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	ALLELE_NUM	PICK	UNIPARC	n_depth	MA:link.PDB	Feature	CLIN_SIG	Gene	HGNC_ID	ExAC_AF_AMR	t_depth	MA:FIS	DISTANCE	SYMBOL_SOURCE	amino_acid_change	Existing_variation	SYMBOL	ExAC_AF_SAS	VARIANT_CLASS	AA_MAF	HIGH_INF_POS	GENE_PHENO	ExAC_AF_AFR	ASN_MAF	PHENO	transcript_name	BIOTYPE	MA:link.var	AFR_MAF	DOMAINS	MOTIF_SCORE_CHANGE	Amino_acids	EA_MAF	Allele	MA:FImpact	cDNA_position	ExAC_AF_NFE	MA:link.MSA	SIFT	TREMBL	AMR_MAF	EAS_MAF	CANONICAL	all_effects	ExAC_AF_EAS	GMAF	MOTIF_NAME	TSL	SOMATIC	MOTIF_POS	IMPACT	CDS_position	MA:protein.change	SWISSPROT	ExAC_AF_FIN	EUR_MAF	Feature_type	HGVS_OFFSET	PolyPhen	FILTER	ENSP	ExAC_AF	CCDS	ExAC_AF_OTH	SAS_MAF	MINIMISED	PUBMED
ATP4B	0	LGGM	GRCh37	13	114307288	114307288	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	46	3	.	.	ENST00000335288.4:c.455G>T	p.Cys152Phe	p.C152F	ENST00000335288	NM_000705.3	152	tGc/tTc	0	1	1	UPI00000012CE	0	getma.org/pdb.php?prot=ATP4B_HUMAN&from=1&to=286&var=C152F	ENST00000335288		ENSG00000186009	820		49	3.495		HGNC	p.C152F		ATP4B		SNV							ENST00000335288	protein_coding	getma.org/?cm=var&var=hg19,13,114307288,C,A&fts=all		Gene3D:2zxeB02,Pfam_domain:PF00287,PROSITE_patterns:PS00391,hmmpanther:PTHR11523,hmmpanther:PTHR11523:SF11,TIGRFAM_domain:TIGR01107		C/F		A	medium	497/1488		getma.org/?cm=msa&ty=f&p=ATP4B_HUMAN&rb=1&re=286&var=C152F	deleterious(0)				YES	ATP4B,missense_variant,p.Cys152Phe,ENST00000335288,NM_000705.3;							MODERATE	455/876	C152F	ATP4B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000334216		CCDS9539.1			1	
GNAT2	0	LGGM	GRCh37	1	110151383	110151383	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	42	3	.	.	ENST00000351050.3:c.331G>A	p.Ala111Thr	p.A111T	ENST00000351050	NM_005272.3	111	Gct/Act	0	1	1	UPI000000124D	0	getma.org/pdb.php?prot=GNAT2_HUMAN&from=3&to=354&var=A111T	ENST00000351050		ENSG00000134183	4394		45	1.055		HGNC	p.A111T		GNAT2		SNV			1				ENST00000351050	protein_coding	getma.org/?cm=var&var=hg19,1,110151383,C,T&fts=all		hmmpanther:PTHR10218:SF68,hmmpanther:PTHR10218,Gene3D:1.10.400.10,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF47895		A/T		T	low	518/1339		getma.org/?cm=msa&ty=f&p=GNAT2_HUMAN&rb=3&re=354&var=A111T	tolerated(0.19)	Q5T697_HUMAN,Q16162_HUMAN			YES	GNAT2,missense_variant,p.Ala111Thr,ENST00000351050,NM_005272.3;							MODERATE	331/1065	A111T	GNAT2_HUMAN			Transcript		benign(0.309)	.	ENSP00000251337		CCDS803.1			1	
CLDN25	0	LGGM	GRCh37	11	113651115	113651115	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	46	3	.	.	ENST00000453129.2:c.598G>A	p.Ala200Thr	p.A200T	ENST00000453129	NM_001101389.1	200	Gct/Act	0	1	1	UPI00000495B4	0	NA	ENST00000453129		ENSG00000228607	37218		49	0		HGNC	p.A200T		CLDN25		SNV							ENST00000453129	protein_coding	getma.org/?cm=var&var=hg19,11,113651115,G,A&fts=all		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF87		A/T		A	neutral	647/754		getma.org/?cm=msa&ty=f&p=CLD25_HUMAN&rb=184&re=229&var=A200T	tolerated(0.09)				YES	CLDN25,missense_variant,p.Ala200Thr,ENST00000453129,NM_001101389.1;							MODERATE	598/690	A200T	CLD25_HUMAN			Transcript		benign(0.021)	.	ENSP00000396304		CCDS44736.1			1	
RADIL	0	LGGM	GRCh37	7	4874345	4874345	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	4	3	.	.	ENST00000399583.3:c.1309G>A	p.Ala437Thr	p.A437T	ENST00000399583	NM_018059.4	437	Gcc/Acc	0	1	1	UPI0000E0A787	0	NA	ENST00000399583		ENSG00000157927	22226		7	2.22		HGNC	p.A197T		RADIL		SNV							ENST00000538469	protein_coding	getma.org/?cm=var&var=hg19,7,4874345,C,T&fts=all		hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3		A/T		T	medium	1497/3689		getma.org/?cm=msa&ty=f&p=RADIL_HUMAN&rb=365&re=564&var=A437T	deleterious(0.03)	F5H6X3_HUMAN,C9J7G0_HUMAN			YES	RADIL,missense_variant,p.Ala437Thr,ENST00000399583,NM_018059.4;RADIL,missense_variant,p.Ala437Thr,ENST00000536091,;RADIL,missense_variant,p.Ala197Thr,ENST00000538469,;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,upstream_gene_variant,,ENST00000473130,;RADIL,upstream_gene_variant,,ENST00000484211,;							MODERATE	1309/3228	A437T	RADIL_HUMAN			Transcript		possibly_damaging(0.465)	.	ENSP00000382492		CCDS43544.1			1	
CTNND2	0	LGGM	GRCh37	5	11199703	11199703	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	74	4	.	.	ENST00000304623.8:c.1832G>C	p.Ser611Thr	p.S611T	ENST00000304623	NM_001332.2	611	aGt/aCt	0	1	1	UPI000013E9AB	0	getma.org/pdb.php?prot=CTND2_HUMAN&from=581&to=621&var=S611T	ENST00000304623		ENSG00000169862	2516		78	0.805		HGNC	p.S520T	rs759806052	CTNND2		SNV			1				ENST00000511377	protein_coding	getma.org/?cm=var&var=hg19,5,11199703,C,G&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF00514,PROSITE_profiles:PS50176,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,SMART_domains:SM00185,Superfamily_domains:SSF48371		S/T		G	low	2022/5481	3.00E-05	getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=581&re=621&var=S611T	deleterious(0.01)	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN			YES	CTNND2,missense_variant,p.Ser611Thr,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Ser611Thr,ENST00000359640,;CTNND2,missense_variant,p.Ser520Thr,ENST00000511377,;CTNND2,missense_variant,p.Ser178Thr,ENST00000458100,;CTNND2,missense_variant,p.Ser274Thr,ENST00000503622,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Ser365Thr,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;							MODERATE	1832/3678	S611T	CTND2_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000307134	1.65E-05	CCDS3881.1			1	
TACR3	0	LGGM	GRCh37	4	104640536	104640536	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	42	4	.	.	ENST00000304883.2:c.297A>T	p.Ala99=	p.A99=	ENST00000304883	NM_001059.2	99	gcA/gcT	0	1	1	UPI0000050413	0		ENST00000304883		ENSG00000169836	11528		46			HGNC	p.A99A	rs771648268	TACR3	6.06E-05	SNV			1				ENST00000304883	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		A		438/5190	1.50E-05						YES	TACR3,synonymous_variant,p.=,ENST00000304883,NM_001059.2;							LOW	297/1398		NK3R_HUMAN			Transcript			.	ENSP00000303325	1.65E-05	CCDS3664.1			1	
LTBP3	0	LGGM	GRCh37	11	65308610	65308610	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	6	5	.	.	ENST00000301873.5:c.2880A>C	p.Pro960=	p.P960=	ENST00000301873	NM_001130144.2	960	ccA/ccC	0	1	1	UPI00003667EB	0		ENST00000301873		ENSG00000168056	6716		11			HGNC	p.P960P		LTBP3		SNV			1				ENST00000322147	protein_coding			Gene3D:3.90.290.10,Pfam_domain:PF00683,PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35,Superfamily_domains:SSF57581		P		G		3149/4443				Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN			YES	LTBP3,synonymous_variant,p.=,ENST00000301873,NM_001130144.2;LTBP3,synonymous_variant,p.=,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,synonymous_variant,p.=,ENST00000530866,;LTBP3,synonymous_variant,p.=,ENST00000532932,;LTBP3,synonymous_variant,p.=,ENST00000526927,;LTBP3,synonymous_variant,p.=,ENST00000536982,;LTBP3,5_prime_UTR_variant,,ENST00000530785,;LTBP3,5_prime_UTR_variant,,ENST00000529189,;SCYL1,downstream_gene_variant,,ENST00000524944,;SCYL1,downstream_gene_variant,,ENST00000270176,NM_020680.3;SCYL1,downstream_gene_variant,,ENST00000527009,;SCYL1,downstream_gene_variant,,ENST00000525364,;SCYL1,downstream_gene_variant,,ENST00000420247,NM_001048218.1;SCYL1,downstream_gene_variant,,ENST00000533862,;SCYL1,downstream_gene_variant,,ENST00000279270,;SCYL1,downstream_gene_variant,,ENST00000528545,;LTBP3,upstream_gene_variant,,ENST00000532661,;LTBP3,upstream_gene_variant,,ENST00000529371,;SCYL1,downstream_gene_variant,,ENST00000534462,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000529582,;LTBP3,non_coding_transcript_exon_variant,,ENST00000530990,;LTBP3,non_coding_transcript_exon_variant,,ENST00000526124,;LTBP3,downstream_gene_variant,,ENST00000525443,;SCYL1,downstream_gene_variant,,ENST00000526454,;SCYL1,downstream_gene_variant,,ENST00000531601,;SCYL1,downstream_gene_variant,,ENST00000532290,;SCYL1,downstream_gene_variant,,ENST00000524897,;SCYL1,downstream_gene_variant,,ENST00000529981,;							LOW	2880/3912		LTBP3_HUMAN			Transcript			.	ENSP00000301873		CCDS44647.1			1	
AKAP9	0	LGGM	GRCh37	7	91707124	91707124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	77	5	.	.	ENST00000356239.3:c.6880A>G	p.Ile2294Val	p.I2294V	ENST00000356239	NM_147185.2	2294	Att/Gtt	0	1	1	UPI000002A38D	0	NA	ENST00000356239		ENSG00000127914	379		82	2.34		HGNC	p.I2306V		AKAP9		SNV			1				ENST00000358100	protein_coding	getma.org/?cm=var&var=hg19,7,91707124,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10		I/V		G	medium	7113/12471		getma.org/?cm=msa&ty=f&p=AKAP9_HUMAN&rb=2130&re=2413&var=I2306V		Q8IW64_HUMAN			YES	AKAP9,missense_variant,p.Ile2306Val,ENST00000359028,;AKAP9,missense_variant,p.Ile2294Val,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Ile2306Val,ENST00000358100,;AKAP9,missense_variant,p.Ile140Val,ENST00000394534,;							MODERATE	6880/11724	I2306V	AKAP9_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000348573		CCDS5622.1			1	
TRAK1	0	LGGM	GRCh37	3	42251257	42251257	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	16	6	.	.	ENST00000327628.5:c.1745-2A>G		p.X582_splice	ENST00000327628	NM_001042646.2			0	1	1	UPI0000139F52	0		ENST00000327628		ENSG00000182606	29947		22			HGNC	-		TRAK1		SNV							ENST00000327628	protein_coding							G		-/5293							YES	TRAK1,splice_acceptor_variant,,ENST00000327628,NM_001042646.2;TRAK1,splice_acceptor_variant,,ENST00000396175,;TRAK1,splice_acceptor_variant,,ENST00000341421,NM_014965.4,NM_001265608.1;TRAK1,splice_acceptor_variant,,ENST00000487159,;							HIGH	1745/2862		TRAK1_HUMAN			Transcript			.	ENSP00000328998		CCDS43072.1			1	
ICA1	0	LGGM	GRCh37	7	8196685	8196685	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	116	6	.	.	ENST00000402384.3:c.804+61C>A		*268*	ENST00000402384	NM_001136020.2			0	1		UPI000012D139	0		ENST00000396675		ENSG00000003147	5343		122			HGNC	p.Q289K	rs773877554	ICA1		SNV							ENST00000407906	protein_coding							T		-/2133	1.77E-05			Q9UDQ6_HUMAN,F8WET5_HUMAN,C9J3Y4_HUMAN				ICA1,missense_variant,p.Gln289Lys,ENST00000407906,;ICA1,intron_variant,,ENST00000402384,NM_001136020.2;ICA1,intron_variant,,ENST00000406470,NM_001276478.1,NM_004968.3;ICA1,intron_variant,,ENST00000265577,;ICA1,intron_variant,,ENST00000396675,NM_022307.2;ICA1,intron_variant,,ENST00000401396,;ICA1,intron_variant,,ENST00000422063,;ICA1,downstream_gene_variant,,ENST00000317367,;AC007009.2,upstream_gene_variant,,ENST00000577980,;ICA1,intron_variant,,ENST00000486677,;ICA1,intron_variant,,ENST00000455539,;ICA1,intron_variant,,ENST00000339809,;ICA1,intron_variant,,ENST00000470696,;ICA1,downstream_gene_variant,,ENST00000490041,;							MODIFIER	-/1452		ICA69_HUMAN			Transcript			.	ENSP00000379908	8.24E-06	CCDS34602.1			1	
VCAN	0	LGGM	GRCh37	5	82834656	82834656	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	47	6	.	.	ENST00000265077.3:c.5834C>G	p.Ser1945Cys	p.S1945C	ENST00000265077	NM_004385.4	1945	tCt/tGt	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		53	1.67		HGNC	p.S958C		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82834656,C,G&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		S/C		G	low	6399/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=441&re=2065&var=S1945C	deleterious(0.01)				YES	VCAN,missense_variant,p.Ser1945Cys,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ser958Cys,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Ser958Cys,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	5834/10191	S1945C	CSPG2_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000265077		CCDS4060.1			1	
HHLA2	0	LGGM	GRCh37	3	108072364	108072364	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	188	6	.	.	ENST00000357759.5:c.155C>T	p.Ser52Leu	p.S52L	ENST00000357759	NM_007072.2	52	tCa/tTa	0	1	1	UPI0000073CD9	0	getma.org/pdb.php?prot=HHLA2_HUMAN&from=34&to=142&var=S52L	ENST00000357759		ENSG00000114455	4905		194	1.935		HGNC	p.S52L	COSM3584920,COSM3584919	HHLA2		SNV						1,1	ENST00000489514	protein_coding	getma.org/?cm=var&var=hg19,3,108072364,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF44,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/L		T	medium	569/2666		getma.org/?cm=msa&ty=f&p=HHLA2_HUMAN&rb=34&re=142&var=S52L	tolerated(0.22)	C9JY43_HUMAN,C9JY13_HUMAN,C9JD07_HUMAN,C9J8J7_HUMAN			YES	HHLA2,missense_variant,p.Ser52Leu,ENST00000357759,NM_007072.2;HHLA2,missense_variant,p.Ser52Leu,ENST00000489514,NM_001282557.1;HHLA2,missense_variant,p.Ser52Leu,ENST00000467761,NM_001282556.1;HHLA2,missense_variant,p.Ser52Leu,ENST00000491820,NM_001282558.1;HHLA2,missense_variant,p.Ser52Leu,ENST00000463019,;HHLA2,missense_variant,p.Ser52Leu,ENST00000462629,;HHLA2,missense_variant,p.Ser52Leu,ENST00000482430,;HHLA2,missense_variant,p.Ser19Leu,ENST00000467282,;HHLA2,intron_variant,,ENST00000467562,NM_001282559.1;HHLA2,upstream_gene_variant,,ENST00000482099,;					1,1		MODERATE	155/1245	S52L	HHLA2_HUMAN			Transcript		possibly_damaging(0.519)	.	ENSP00000350402		CCDS46883.1			1	
SLC27A5	0	LGGM	GRCh37	19	59010527	59010527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	30	7	.	.	ENST00000263093.2:c.1728C>A	p.Phe576Leu	p.F576L	ENST00000263093	NM_012254.2	576	ttC/ttA	0	1	1	UPI0000072ECE	0	getma.org/pdb.php?prot=S27A5_HUMAN&from=144&to=582&var=F576L	ENST00000263093		ENSG00000083807	10999		37	2.98		HGNC	p.F576L	rs765538502	SLC27A5		SNV							ENST00000263093	protein_coding	getma.org/?cm=var&var=hg19,19,59010527,G,T&fts=all		Gene3D:3.30.300.30,Pfam_domain:PF13193,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF99,Superfamily_domains:SSF56801		F/L		T	medium	1838/2361	1.51E-05	getma.org/?cm=msa&ty=f&p=S27A5_HUMAN&rb=144&re=582&var=F576L	deleterious(0.02)	M0R075_HUMAN			YES	SLC27A5,missense_variant,p.Phe576Leu,ENST00000263093,NM_012254.2;SLC27A5,missense_variant,p.Phe492Leu,ENST00000601355,;SLC27A5,5_prime_UTR_variant,,ENST00000594786,;SLC27A5,non_coding_transcript_exon_variant,,ENST00000599700,;SLC27A5,5_prime_UTR_variant,,ENST00000595851,;SLC27A5,upstream_gene_variant,,ENST00000601997,;SLC27A5,downstream_gene_variant,,ENST00000594683,;							MODERATE	1728/2073	F576L	S27A5_HUMAN			Transcript		possibly_damaging(0.645)	.	ENSP00000263093	8.24E-06	CCDS12983.1			1	
PDXK	0	LGGM	GRCh37	21	45163634	45163634	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	6	7	.	.	ENST00000291565.4:c.277A>G	p.Met93Val	p.M93V	ENST00000291565	NM_003681.4	93	Atg/Gtg	0	1	1	UPI0000131524	0	getma.org/pdb.php?prot=PDXK_HUMAN&from=3&to=283&var=M93V	ENST00000291565		ENSG00000160209	8819		13	0.64		HGNC	p.M53V		PDXK		SNV							ENST00000467908	protein_coding	getma.org/?cm=var&var=hg19,21,45163634,A,G&fts=all		hmmpanther:PTHR10534:SF0,hmmpanther:PTHR10534,Gene3D:3.40.1190.20,TIGRFAM_domain:TIGR00687,Pfam_domain:PF00294,Superfamily_domains:SSF53613		M/V		G	neutral	460/7366		getma.org/?cm=msa&ty=f&p=PDXK_HUMAN&rb=3&re=283&var=M93V	tolerated(0.26)	G1UI32_HUMAN			YES	PDXK,missense_variant,p.Met93Val,ENST00000291565,NM_003681.4;PDXK,missense_variant,p.Met53Val,ENST00000467908,;PDXK,intron_variant,,ENST00000468090,;PDXK,downstream_gene_variant,,ENST00000327574,;PDXK,downstream_gene_variant,,ENST00000398081,;PDXK,non_coding_transcript_exon_variant,,ENST00000343528,;PDXK,non_coding_transcript_exon_variant,,ENST00000398078,;PDXK,non_coding_transcript_exon_variant,,ENST00000498040,;PDXK,non_coding_transcript_exon_variant,,ENST00000398085,;PDXK,non_coding_transcript_exon_variant,,ENST00000481512,;PDXK,non_coding_transcript_exon_variant,,ENST00000470029,;PDXK,non_coding_transcript_exon_variant,,ENST00000490666,;PDXK,non_coding_transcript_exon_variant,,ENST00000472777,;PDXK,downstream_gene_variant,,ENST00000476313,;PDXK,upstream_gene_variant,,ENST00000468392,;							MODERATE	277/939	M93V	PDXK_HUMAN			Transcript		benign(0.074)	.	ENSP00000291565		CCDS13699.1			1	
CST2	0	LGGM	GRCh37	20	23807167	23807167	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	18	8	.	.	ENST00000304725.2:c.131T>C	p.Val44Ala	p.V44A	ENST00000304725	NM_001322.2	44	gTa/gCa	0	1	1	UPI0000128D74	0	getma.org/pdb.php?prot=CYTT_HUMAN&from=32&to=127&var=V44A	ENST00000304725		ENSG00000170369	2474		26	2.32		HGNC	p.V44A		CST2		SNV							ENST00000304725	protein_coding	getma.org/?cm=var&var=hg19,20,23807167,A,G&fts=all		Superfamily_domains:SSF54403,SMART_domains:SM00043,Pfam_domain:PF00031,Gene3D:3.10.450.10,hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF41		V/A		G	medium	202/748		getma.org/?cm=msa&ty=f&p=CYTT_HUMAN&rb=32&re=127&var=V44A	tolerated(0.05)				YES	CST2,missense_variant,p.Val44Ala,ENST00000304725,NM_001322.2;							MODERATE	131/426	V44A	CYTT_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000307540		CCDS13161.1			1	
SLC22A1	0	LGGM	GRCh37	6	160543372	160543372	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	12	8	.	.	ENST00000366963.4:c.405C>T	p.Val135=	p.V135=	ENST00000366963	NM_153187.1	135	gtC/gtT	0	1	1	UPI0000070FB1	0		ENST00000366963		ENSG00000175003	10963		20			HGNC	p.V135V		SLC22A1		SNV							ENST00000324965	protein_coding			PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF214,TIGRFAM_domain:TIGR00898		V		T		552/1948				F5GY86_HUMAN			YES	SLC22A1,synonymous_variant,p.=,ENST00000366963,NM_153187.1,NM_003057.2;SLC22A1,synonymous_variant,p.=,ENST00000324965,;SLC22A1,synonymous_variant,p.=,ENST00000457470,;SLC22A1,synonymous_variant,p.=,ENST00000539263,;SLC22A1,synonymous_variant,p.=,ENST00000460902,;							LOW	405/1665		S22A1_HUMAN			Transcript			.	ENSP00000355930		CCDS5274.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232574961	232574961	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	25	8	.	.	ENST00000366630.1:c.3924C>T	p.Asp1308=	p.D1308=	ENST00000366630		1308	gaC/gaT	0	1		UPI00001D7D6A	0		ENST00000262861		ENSG00000116991	23800		33			HGNC	p.D1308D	rs557045004,COSM679074	SIPA1L2		SNV						0,1	ENST00000366630	protein_coding		A:0	hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		D		A		4151/6555					A:0	A:0		SIPA1L2,synonymous_variant,p.=,ENST00000366630,;SIPA1L2,synonymous_variant,p.=,ENST00000262861,NM_020808.3;SIPA1L2,synonymous_variant,p.=,ENST00000308942,;		A:0.0002			0,1		LOW	3924/5169		SI1L2_HUMAN		A:0	Transcript			.	ENSP00000262861		CCDS41474.1		A:0.001	1	
GNPNAT1	0	LGGM	GRCh37	14	53251309	53251309	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	22	9	.	.	ENST00000216410.3:c.60T>G	p.Ser20Arg	p.S20R	ENST00000216410	NM_198066.3	20	agT/agG	0	1	1	UPI000003B007	0	getma.org/pdb.php?prot=GNA1_HUMAN&from=1&to=91&var=S20R	ENST00000216410		ENSG00000100522	19980		31	2.075		HGNC	p.S20R		GNPNAT1		SNV							ENST00000557604	protein_coding	getma.org/?cm=var&var=hg19,14,53251309,A,C&fts=all		hmmpanther:PTHR13355		S/R		C	medium	248/3860		getma.org/?cm=msa&ty=f&p=GNA1_HUMAN&rb=1&re=91&var=S20R	tolerated(0.13)	G3V5E4_HUMAN,G3V4W4_HUMAN			YES	GNPNAT1,missense_variant,p.Ser20Arg,ENST00000216410,NM_198066.3;GNPNAT1,missense_variant,p.Ser20Arg,ENST00000557604,;GNPNAT1,intron_variant,,ENST00000554230,;RN7SL588P,upstream_gene_variant,,ENST00000583393,;GNPNAT1,upstream_gene_variant,,ENST00000553987,;							MODERATE	60/555	S20R	GNA1_HUMAN			Transcript		benign(0.004)	.	ENSP00000216410		CCDS9712.1			1	
KIF26B	0	LGGM	GRCh37	1	245851001	245851001	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	9	9	.	.	ENST00000407071.2:c.4716C>A	p.Pro1572=	p.P1572=	ENST00000407071	NM_018012.3	1572	ccC/ccA	0	1	1	UPI0000695D71	0		ENST00000407071		ENSG00000162849	25484		18			HGNC	p.P1572P	rs751210479	KIF26B		SNV							ENST00000407071	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363		P		A		5156/7287				B4DF75_HUMAN			YES	KIF26B,synonymous_variant,p.=,ENST00000366518,;KIF26B,synonymous_variant,p.=,ENST00000407071,NM_018012.3;KIF26B,downstream_gene_variant,,ENST00000483253,;	0.000591						LOW	4716/6327		KI26B_HUMAN			Transcript			common_variant	ENSP00000385545	8.37E-06	CCDS44342.1			1	
GRN	0	LGGM	GRCh37	17	42429823	42429823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	13	9	.	.	ENST00000053867.3:c.1528C>A	p.Arg510Ser	p.R510S	ENST00000053867	NM_002087.2	510	Cgt/Agt	0	1	1	UPI00000015E0	0	NA	ENST00000053867		ENSG00000030582	4601		22	0.41		HGNC	p.R353S		GRN		SNV			1				ENST00000589265	protein_coding	getma.org/?cm=var&var=hg19,17,42429823,C,A&fts=all		hmmpanther:PTHR12274		R/S		A	neutral	1590/2148		getma.org/?cm=msa&ty=f&p=GRN_HUMAN&rb=498&re=531&var=R510S	tolerated(0.51)	K7EQK6_HUMAN,K7EQA7_HUMAN,K7ENN1_HUMAN,K7ENI2_HUMAN,K7EM89_HUMAN,K7ELY1_HUMAN,K7EK92_HUMAN,K7EJY4_HUMAN			YES	GRN,missense_variant,p.Arg510Ser,ENST00000053867,NM_002087.2;GRN,missense_variant,p.Arg353Ser,ENST00000589265,;GRN,missense_variant,p.Arg324Ser,ENST00000586443,;GRN,missense_variant,p.Arg55Ser,ENST00000586242,;FAM171A2,downstream_gene_variant,,ENST00000293443,NM_198475.2;GRN,downstream_gene_variant,,ENST00000593167,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000585512,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000589923,;FAM171A2,downstream_gene_variant,,ENST00000589407,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000586782,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000588170,;GRN,downstream_gene_variant,,ENST00000590984,;GRN,downstream_gene_variant,,ENST00000587958,;GRN,downstream_gene_variant,,ENST00000592323,;							MODERATE	1528/1782	R510S	GRN_HUMAN			Transcript		benign(0.002)	.	ENSP00000053867		CCDS11483.1			1	
EPM2AIP1	0	LGGM	GRCh37	3	37033696	37033696	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	35	9	.	.	ENST00000322716.5:c.873T>G	p.Asp291Glu	p.D291E	ENST00000322716	NM_014805.3	291	gaT/gaG	0	1	1	UPI0000073486	0	NA	ENST00000322716		ENSG00000178567	19735		44	0		HGNC	p.D291E		EPM2AIP1		SNV							ENST00000322716	protein_coding	getma.org/?cm=var&var=hg19,3,37033696,A,C&fts=all		hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697		D/E		C	neutral	1100/7439		getma.org/?cm=msa&ty=f&p=EPMIP_HUMAN&rb=201&re=400&var=D291E	tolerated(1)				YES	EPM2AIP1,missense_variant,p.Asp291Glu,ENST00000322716,NM_014805.3;MLH1,upstream_gene_variant,,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,upstream_gene_variant,,ENST00000458205,NM_001258274.1;MLH1,upstream_gene_variant,,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,upstream_gene_variant,,ENST00000539477,NM_001167619.1;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000456676,NM_001258271.1;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000454028,;MLH1,upstream_gene_variant,,ENST00000442249,;							MODERATE	873/1824	D291E	EPMIP_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000406027		CCDS46790.1			1	
TBCCD1	0	LGGM	GRCh37	3	186272542	186272542	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	20	10	.	.	ENST00000424280.1:c.1047-2A>T		p.X349_splice	ENST00000424280	NM_001134415.1			0	1		UPI0000073055	0		ENST00000338733		ENSG00000113838	25546		30			HGNC	-		TBCCD1		SNV							ENST00000424280	protein_coding							A		-/2441				C9J4M0_HUMAN				TBCCD1,splice_acceptor_variant,,ENST00000424280,NM_001134415.1;TBCCD1,splice_acceptor_variant,,ENST00000338733,NM_018138.3;TBCCD1,splice_acceptor_variant,,ENST00000446782,;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;							HIGH	1047/1674		TBCC1_HUMAN			Transcript			.	ENSP00000341652		CCDS3276.1			1	
ZNF133	0	LGGM	GRCh37	20	18297315	18297315	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	18	10	.	.	ENST00000377671.3:c.1817T>C	p.Val606Ala	p.V606A	ENST00000377671	NM_003434.4	606	gTg/gCg	0	1		UPI000013CBD0	0	getma.org/pdb.php?prot=ZN133_HUMAN&from=592&to=617&var=V607A	ENST00000316358		ENSG00000125846	12917		28	0.055		HGNC	p.V607A		ZNF133		SNV							ENST00000401790	protein_coding	getma.org/?cm=var&var=hg19,20,18297315,T,C&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_profiles:PS50157		V/A		C	neutral	1917/2242		getma.org/?cm=msa&ty=f&p=ZN133_HUMAN&rb=572&re=637&var=V607A	tolerated(0.08)	Q5JXW0_HUMAN,Q5JXV9_HUMAN,F5H289_HUMAN				ZNF133,missense_variant,p.Val606Ala,ENST00000377671,NM_003434.4,NM_001282995.1,NM_001083330.2;ZNF133,missense_variant,p.Val607Ala,ENST00000401790,NM_001282997.1;ZNF133,missense_variant,p.Val610Ala,ENST00000396026,NM_001283002.1;ZNF133,missense_variant,p.Val544Ala,ENST00000402618,NM_001283004.1,NM_001283003.1;ZNF133,missense_variant,p.Val607Ala,ENST00000316358,NM_001283008.1,NM_001282999.1,NM_001282998.1,NM_001283001.1,NM_001283000.1;ZNF133,missense_variant,p.Val512Ala,ENST00000535822,NM_001283007.1,NM_001283006.1;ZNF133,missense_variant,p.Val512Ala,ENST00000538547,NM_001283005.1;ZNF133,downstream_gene_variant,,ENST00000425686,;ZNF133,downstream_gene_variant,,ENST00000434018,;ZNF133,downstream_gene_variant,,ENST00000360010,;RP4-568F9.3,upstream_gene_variant,,ENST00000436848,;ZNF133,non_coding_transcript_exon_variant,,ENST00000462170,;							MODERATE	1820/1965	V607A	ZN133_HUMAN			Transcript		benign(0.008)	.	ENSP00000346090		CCDS63234.1			1	
NPAP1	0	LGGM	GRCh37	15	24923142	24923142	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	65	10	.	.	ENST00000329468.2:c.2128A>G	p.Ile710Val	p.I710V	ENST00000329468	NM_018958.2	710	Atc/Gtc	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		75	1.24		HGNC	p.I710V		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24923142,A,G&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		I/V		G	low	2602/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=I710V	tolerated(0.15)				YES	NPAP1,missense_variant,p.Ile710Val,ENST00000329468,NM_018958.2;							MODERATE	2128/3471	I710V	NPAP1_HUMAN			Transcript		benign(0.037)	.	ENSP00000333735		CCDS10015.1			1	
EPM2AIP1	0	LGGM	GRCh37	3	37033727	37033727	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	49	10	.	.	ENST00000322716.5:c.842T>G	p.Phe281Cys	p.F281C	ENST00000322716	NM_014805.3	281	tTt/tGt	0	1	1	UPI0000073486	0	NA	ENST00000322716		ENSG00000178567	19735		59	0		HGNC	p.F281C		EPM2AIP1		SNV							ENST00000322716	protein_coding	getma.org/?cm=var&var=hg19,3,37033727,A,C&fts=all		hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697		F/C		C	neutral	1069/7439		getma.org/?cm=msa&ty=f&p=EPMIP_HUMAN&rb=201&re=400&var=F281C	deleterious(0.01)				YES	EPM2AIP1,missense_variant,p.Phe281Cys,ENST00000322716,NM_014805.3;MLH1,upstream_gene_variant,,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,upstream_gene_variant,,ENST00000458205,NM_001258274.1;MLH1,upstream_gene_variant,,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,upstream_gene_variant,,ENST00000539477,NM_001167619.1;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000456676,NM_001258271.1;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000454028,;MLH1,upstream_gene_variant,,ENST00000442249,;							MODERATE	842/1824	F281C	EPMIP_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000406027		CCDS46790.1			1	
OXR1	0	LGGM	GRCh37	8	107696517	107696517	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	349	11	.	.	ENST00000442977.2:c.458G>A	p.Ser153Asn	p.S153N	ENST00000442977	NM_001198532.1	153	aGc/aAc	0	1	1	UPI0001914BEA	0	NA	ENST00000442977		ENSG00000164830	15822		360	1.7		HGNC	p.S152N		OXR1		SNV							ENST00000531443	protein_coding	getma.org/?cm=var&var=hg19,8,107696517,G,A&fts=all		hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF69,Low_complexity_(Seg):seg		S/N		A	low	557/2956		getma.org/?cm=msa&ty=f&p=OXR1_HUMAN&rb=144&re=198&var=S153N	tolerated(0.06)	E9PLW2_HUMAN			YES	OXR1,missense_variant,p.Ser152Asn,ENST00000445937,NM_018002.3;OXR1,missense_variant,p.Ser152Asn,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Ser145Asn,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Ser152Asn,ENST00000531443,;OXR1,missense_variant,p.Ser153Asn,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Ser85Asn,ENST00000497705,;OXR1,missense_variant,p.Ser83Asn,ENST00000517686,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,non_coding_transcript_exon_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;							MODERATE	458/2625	S153N	OXR1_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000405424		CCDS56548.1			1	
SHROOM2	0	LGGM	GRCh37	X	9864361	9864361	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	1	11	.	.	ENST00000380913.3:c.2413A>G	p.Ser805Gly	p.S805G	ENST00000380913	NM_001649.2	805	Agc/Ggc	0	1	1	UPI0000125D05	0	NA	ENST00000380913		ENSG00000146950	630		12	1.045		HGNC	p.S805G		SHROOM2		SNV							ENST00000380913	protein_coding	getma.org/?cm=var&var=hg19,X,9864361,A,G&fts=all		Pfam_domain:PF08688,hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8		S/G		G	low	2503/7447		getma.org/?cm=msa&ty=f&p=SHRM2_HUMAN&rb=639&re=806&var=S805G	tolerated(0.1)	F5H3B6_HUMAN,C9IZC6_HUMAN			YES	SHROOM2,missense_variant,p.Ser805Gly,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;							MODERATE	2413/4851	S805G	SHRM2_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000370299		CCDS14135.1			1	
MCOLN1	0	LGGM	GRCh37	19	7593069	7593069	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	20	11	.	.	ENST00000264079.6:c.803G>A	p.Ser268Asn	p.S268N	ENST00000264079	NM_020533.2	268	aGt/aAt	0	1	1	UPI00000377A2	0	NA	ENST00000264079		ENSG00000090674	13356		31	2.255		HGNC	p.S268N		MCOLN1		SNV			1				ENST00000264079	protein_coding	getma.org/?cm=var&var=hg19,19,7593069,G,A&fts=all		hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF6		S/N		A	medium	928/2082		getma.org/?cm=msa&ty=f&p=MCLN1_HUMAN&rb=201&re=377&var=S268N	deleterious(0.03)	B4DFZ1_HUMAN			YES	MCOLN1,missense_variant,p.Ser268Asn,ENST00000264079,NM_020533.2;MCOLN1,upstream_gene_variant,,ENST00000599334,;MCOLN1,downstream_gene_variant,,ENST00000601003,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000394321,;MCOLN1,downstream_gene_variant,,ENST00000596390,;MCOLN1,downstream_gene_variant,,ENST00000596008,;MCOLN1,upstream_gene_variant,,ENST00000595860,;MCOLN1,downstream_gene_variant,,ENST00000598406,;MCOLN1,upstream_gene_variant,,ENST00000594692,;							MODERATE	803/1743	S268N	MCLN1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000264079		CCDS12180.1			1	
CYP2D6	0	LGGM	GRCh37	22	42523517	42523517	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	8	11	.	.	ENST00000360608.5:c.1105A>G	p.Ile369Val	p.I369V	ENST00000360608	NM_000106.5	369	Atc/Gtc	0	1	1	UPI0000157756	0	getma.org/pdb.php?prot=CP2D6_HUMAN&from=34&to=494&var=I369V	ENST00000360608		ENSG00000100197	2625		19	1.485		HGNC	p.I369V	rs267608293	CYP2D6		SNV			1				ENST00000389970	protein_coding	getma.org/?cm=var&var=hg19,22,42523517,T,C&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385		I/V		C	low	1220/1684		getma.org/?cm=msa&ty=f&p=CP2D6_HUMAN&rb=34&re=494&var=I369V	tolerated(0.08)	Q6NWU0_HUMAN,Q007T9_HUMAN			YES	CYP2D6,missense_variant,p.Ile369Val,ENST00000360608,NM_000106.5;CYP2D6,missense_variant,p.Ile369Val,ENST00000389970,;CYP2D6,missense_variant,p.Ile318Val,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,;							MODERATE	1105/1494	I369V				Transcript		benign(0.048)	.	ENSP00000353820		CCDS46721.1			1	9241659
ZNF814	0	LGGM	GRCh37	19	58384415	58384415	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	59	11	.	.	ENST00000435989.2:c.2343C>T	p.Phe781=	p.F781=	ENST00000435989	NM_001144989.1	781	ttC/ttT	0	1	1	UPI0001662BAD	0		ENST00000435989		ENSG00000204514	33258		70			HGNC	p.F781F	rs537301028	ZNF814		SNV							ENST00000435989	protein_coding		A:0	PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF3,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		F		A		2578/3146					A:0.0014	A:0	YES	ZNF814,synonymous_variant,p.=,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;CTD-2583A14.8,upstream_gene_variant,,ENST00000597780,;ZNF814,intron_variant,,ENST00000594629,;CTD-2583A14.11,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;CTD-2583A14.11,downstream_gene_variant,,ENST00000603829,;		A:0.0004					LOW	2343/2568		ZN814_HUMAN		A:0.001	Transcript			.	ENSP00000410545		CCDS46212.1		A:0	1	
EPM2AIP1	0	LGGM	GRCh37	3	37033712	37033712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	38	12	.	.	ENST00000322716.5:c.857T>C	p.Leu286Pro	p.L286P	ENST00000322716	NM_014805.3	286	cTg/cCg	0	1	1	UPI0000073486	0	NA	ENST00000322716		ENSG00000178567	19735		50	0		HGNC	p.L286P		EPM2AIP1		SNV							ENST00000322716	protein_coding	getma.org/?cm=var&var=hg19,3,37033712,A,G&fts=all		hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697		L/P		G	neutral	1084/7439		getma.org/?cm=msa&ty=f&p=EPMIP_HUMAN&rb=201&re=400&var=L286P	tolerated(0.06)				YES	EPM2AIP1,missense_variant,p.Leu286Pro,ENST00000322716,NM_014805.3;MLH1,upstream_gene_variant,,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,upstream_gene_variant,,ENST00000458205,NM_001258274.1;MLH1,upstream_gene_variant,,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,upstream_gene_variant,,ENST00000539477,NM_001167619.1;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000456676,NM_001258271.1;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000429117,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000454028,;MLH1,upstream_gene_variant,,ENST00000442249,;							MODERATE	857/1824	L286P	EPMIP_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000406027		CCDS46790.1			1	
TFB2M	0	LGGM	GRCh37	1	246729409	246729409	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	25	13	.	.	ENST00000366514.4:c.32G>C	p.Arg11Pro	p.R11P	ENST00000366514	NM_022366.2	11	cGg/cCg	0	1	1	UPI0000073CFC	0	NA	ENST00000366514		ENSG00000162851	18559		38	1.04		HGNC	p.R11P		TFB2M		SNV							ENST00000366514	protein_coding	getma.org/?cm=var&var=hg19,1,246729409,C,G&fts=all		PIRSF_domain:PIRSF027833		R/P		G	low	218/1848		getma.org/?cm=msa&ty=f&p=TFB2M_HUMAN&rb=1&re=71&var=R11P	deleterious(0)				YES	TFB2M,missense_variant,p.Arg11Pro,ENST00000366514,NM_022366.2;TFB2M,missense_variant,p.Arg11Pro,ENST00000544618,;CNST,upstream_gene_variant,,ENST00000366513,NM_152609.2;CNST,upstream_gene_variant,,ENST00000366512,NM_001139459.1;CNST,upstream_gene_variant,,ENST00000366511,;CNST,upstream_gene_variant,,ENST00000483271,;							MODERATE	32/1191	R11P	TFB2M_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355471		CCDS1627.1			1	
RYR1	0	LGGM	GRCh37	19	39052004	39052004	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	19	13	.	.	ENST00000359596.3:c.12534C>A	p.Gly4178=	p.G4178=	ENST00000359596		4178	ggC/ggA	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		32			HGNC	p.G4173G		RYR1		SNV			1				ENST00000355481	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		G		A		12534/15117				O75591_HUMAN,B4DET7_HUMAN			YES	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,;							LOW	12534/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
RYR1	0	LGGM	GRCh37	19	39052003	39052003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	18	13	.	.	ENST00000359596.3:c.12533G>A	p.Gly4178Asp	p.G4178D	ENST00000359596		4178	gGc/gAc	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		31	3.11		HGNC	p.G4173D		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,39052003,G,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		G/D		A	medium	12533/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=4135&re=4334&var=G4178D		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Gly4173Asp,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Gly4173Asp,ENST00000360985,;RYR1,missense_variant,p.Gly4178Asp,ENST00000359596,;RYR1,3_prime_UTR_variant,,ENST00000594335,;							MODERATE	12533/15117	G4178D	RYR1_HUMAN			Transcript		benign(0)	.	ENSP00000352608		CCDS33011.1			1	
OMA1	0	LGGM	GRCh37	1	58999872	58999883	+	inframe_deletion	In_Frame_Del	DEL	AATAACCCAATT	AATAACCCAATT	-	novel	by Submitter	H050150	H050150N.bam	AATAACCCAATT	AATAACCCAATT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	39	13	.	.	ENST00000371226.3:c.850_861del	p.Asn284_Ile287del	p.N284_I287del	ENST00000371226	NM_145243.3	284	AATTGGGTTATT/-	0	1	1	UPI000006D0C6	0		ENST00000371226		ENSG00000162600	29661		52			HGNC	p.284_287del		OMA1		deletion							ENST00000371226	protein_coding			hmmpanther:PTHR22726,hmmpanther:PTHR22726:SF1,Gene3D:3cqbA01,Pfam_domain:PF01435		NWVI/-		-		964-975/1935				S4R3A3_HUMAN			YES	OMA1,inframe_deletion,p.Asn126_Ile129del,ENST00000421528,;OMA1,inframe_deletion,p.Asn284_Ile287del,ENST00000371226,NM_145243.3;OMA1,inframe_deletion,p.Asn284_Ile287del,ENST00000358603,;OMA1,inframe_deletion,p.Asn284_Ile287del,ENST00000456980,;OMA1,downstream_gene_variant,,ENST00000419242,;OMA1,downstream_gene_variant,,ENST00000426139,;OMA1,downstream_gene_variant,,ENST00000453710,;OMA1,downstream_gene_variant,,ENST00000482274,;OMA1,non_coding_transcript_exon_variant,,ENST00000467063,;DAB1,intron_variant,,ENST00000485760,;OMA1,upstream_gene_variant,,ENST00000476933,;OMA1,upstream_gene_variant,,ENST00000467509,;							MODERATE	850-861/1575		OMA1_HUMAN			Transcript			.	ENSP00000360270		CCDS608.1			1	
CPSF3	0	LGGM	GRCh37	2	9593133	9593133	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	11	14	.	.	ENST00000238112.3:c.1487C>T	p.Ser496Phe	p.S496F	ENST00000238112	NM_016207.3	496	tCt/tTt	0	1	1	UPI00001282F5	0	NA	ENST00000238112		ENSG00000119203	2326		25	0.83		HGNC	p.S459F		CPSF3		SNV							ENST00000460593	protein_coding	getma.org/?cm=var&var=hg19,2,9593133,C,T&fts=all		Pfam_domain:PF11718,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF32,SMART_domains:SM01098		S/F		T	low	1693/2345		getma.org/?cm=msa&ty=f&p=CPSF3_HUMAN&rb=477&re=683&var=S496F	deleterious(0.03)	G5E9W3_HUMAN,C9JZH6_HUMAN			YES	CPSF3,missense_variant,p.Ser459Phe,ENST00000460593,;CPSF3,missense_variant,p.Ser496Phe,ENST00000238112,NM_016207.3;CPSF3,upstream_gene_variant,,ENST00000489403,;CPSF3,downstream_gene_variant,,ENST00000489629,;							MODERATE	1487/2055	S496F	CPSF3_HUMAN			Transcript		benign(0.285)	.	ENSP00000238112		CCDS1664.1			1	
LCAT	0	LGGM	GRCh37	16	67976409	67976428	+	frameshift_variant	Frame_Shift_Del	DEL	ATGAGGAAGACAGGCTTCCC	ATGAGGAAGACAGGCTTCCC	-	novel	by Submitter	H050150	H050150N.bam	ATGAGGAAGACAGGCTTCCC	ATGAGGAAGACAGGCTTCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	19	14	.	.	ENST00000264005.5:c.586_605del	p.Gly196TrpfsTer26	p.G196Wfs*26	ENST00000264005	NM_000229.1	196	GGGAAGCCTGTCTTCCTCATt/t	0	1	1	UPI0000000DE7	0		ENST00000264005		ENSG00000213398	6522		33			HGNC	p.77_83del		LCAT		deletion			1				ENST00000573538	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Gene3D:3.40.50.1820,Pfam_domain:PF02450,Superfamily_domains:SSF53474		GKPVFLI/X		-		616-635/1507				J3QSE5_HUMAN			YES	LCAT,frameshift_variant,p.Gly196TrpfsTer26,ENST00000264005,NM_000229.1;LCAT,frameshift_variant,p.Gly124TrpfsTer26,ENST00000570980,;LCAT,frameshift_variant,p.Gly19TrpfsTer26,ENST00000576450,;LCAT,intron_variant,,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,,ENST00000570396,;CTC-479C5.17,downstream_gene_variant,,ENST00000590594,;LCAT,frameshift_variant,p.Gly77TrpfsTer26,ENST00000573538,;LCAT,3_prime_UTR_variant,,ENST00000575467,;LCAT,non_coding_transcript_exon_variant,,ENST00000575277,;LCAT,non_coding_transcript_exon_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000570802,;SLC12A4,downstream_gene_variant,,ENST00000573023,;SLC12A4,downstream_gene_variant,,ENST00000575857,;SLC12A4,downstream_gene_variant,,ENST00000570616,;							HIGH	586-605/1323		LCAT_HUMAN			Transcript			.	ENSP00000264005		CCDS10854.1			1	
RPE65	0	LGGM	GRCh37	1	68896784	68896784	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	29	15	.	.	ENST00000262340.5:c.1414T>C	p.Phe472Leu	p.F472L	ENST00000262340	NM_000329.2	472	Ttt/Ctt	0	1	1	UPI000004346C	0	getma.org/pdb.php?prot=RPE65_HUMAN&from=13&to=533&var=F472L	ENST00000262340		ENSG00000116745	10294		44	3.46		HGNC	p.F472L		RPE65		SNV			1				ENST00000262340	protein_coding	getma.org/?cm=var&var=hg19,1,68896784,A,G&fts=all		Pfam_domain:PF03055,hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF7		F/L		G	medium	1468/2610		getma.org/?cm=msa&ty=f&p=RPE65_HUMAN&rb=13&re=533&var=F472L	deleterious(0.02)	Q2EKB8_HUMAN,C7FEP0_HUMAN			YES	RPE65,missense_variant,p.Phe472Leu,ENST00000262340,NM_000329.2;							MODERATE	1414/1602	F472L	RPE65_HUMAN			Transcript		possibly_damaging(0.467)	.	ENSP00000262340		CCDS643.1			1	
PDE8A	0	LGGM	GRCh37	15	85679824	85679824	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	30	15	.	.	ENST00000310298.4:c.2313C>T	p.Thr771=	p.T771=	ENST00000310298		771	acC/acT	0	1	1	UPI0000127C00	0		ENST00000310298		ENSG00000073417	8793		45			HGNC	p.T771T		PDE8A		SNV							ENST00000394553	protein_coding			hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,Superfamily_domains:SSF109604		T		T		2565/3984				Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN			YES	PDE8A,synonymous_variant,p.=,ENST00000310298,;PDE8A,synonymous_variant,p.=,ENST00000394553,NM_002605.2;PDE8A,synonymous_variant,p.=,ENST00000557957,NM_001243137.1;PDE8A,synonymous_variant,p.=,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,;							LOW	2313/2490		PDE8A_HUMAN			Transcript			.	ENSP00000311453		CCDS10336.1			1	
HDHD2	0	LGGM	GRCh37	18	44635127	44635127	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	25	16	.	.	ENST00000300605.6:c.706A>G	p.Ile236Val	p.I236V	ENST00000300605	NM_032124.4	236	Att/Gtt	0	1	1	UPI0000037B93	0	getma.org/pdb.php?prot=HDHD2_HUMAN&from=176&to=251&var=I236V	ENST00000300605		ENSG00000167220	25364		41	1.64		HGNC	p.I236V		HDHD2		SNV							ENST00000300605	protein_coding	getma.org/?cm=var&var=hg19,18,44635127,T,C&fts=all		hmmpanther:PTHR19288:SF36,hmmpanther:PTHR19288,Pfam_domain:PF13242,TIGRFAM_domain:TIGR01458,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784		I/V		C	low	859/2212		getma.org/?cm=msa&ty=f&p=HDHD2_HUMAN&rb=176&re=251&var=I236V	tolerated(0.15)	K7ER15_HUMAN,K7EQD2_HUMAN			YES	HDHD2,missense_variant,p.Ile236Val,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,;							MODERATE	706/780	I236V	HDHD2_HUMAN			Transcript		benign(0.004)	.	ENSP00000300605		CCDS32829.1			1	
KIAA0430	0	LGGM	GRCh37	16	15711392	15711392	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	31	16	.	.	ENST00000396368.3:c.2721G>T	p.Lys907Asn	p.K907N	ENST00000396368	NM_001184998.1	907	aaG/aaT	0	1	1	UPI00006881BC	0	NA	ENST00000396368		ENSG00000166783	29562		47	1.39		HGNC	p.K907N		KIAA0430		SNV							ENST00000396368	protein_coding	getma.org/?cm=var&var=hg19,16,15711392,C,A&fts=all		hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379,PROSITE_profiles:PS51644		K/N		A	low	2928/7743		getma.org/?cm=msa&ty=f&p=MARF1_HUMAN&rb=878&re=974&var=K907N	deleterious(0.03)	F8VRS5_HUMAN			YES	KIAA0430,missense_variant,p.Lys907Asn,ENST00000396368,NM_001184998.1,NM_014647.3,NM_001184999.1;KIAA0430,missense_variant,p.Arg549Ser,ENST00000344181,;KIAA0430,missense_variant,p.Lys742Asn,ENST00000540441,;KIAA0430,missense_variant,p.Lys907Asn,ENST00000551742,;KIAA0430,missense_variant,p.Lys904Asn,ENST00000602337,;KIAA0430,missense_variant,p.Lys904Asn,ENST00000548025,;C16orf45,intron_variant,,ENST00000565857,;KIAA0430,downstream_gene_variant,,ENST00000551678,;KIAA0430,missense_variant,p.Lys907Asn,ENST00000552553,;KIAA0430,splice_region_variant,,ENST00000546864,;KIAA0430,upstream_gene_variant,,ENST00000552535,;							MODERATE	2721/5229	K907N	MARF1_HUMAN			Transcript		possibly_damaging(0.76)	.	ENSP00000379654		CCDS10562.2			1	
FAT3	0	LGGM	GRCh37	11	92569762	92569762	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	186	16	.	.	ENST00000298047.6:c.10117A>T	p.Asn3373Tyr	p.N3373Y	ENST00000298047		3373	Aac/Tac	0	1	1	UPI000050B6C6	0	getma.org/pdb.php?prot=FAT3_HUMAN&from=3346&to=3437&var=N3373Y	ENST00000298047		ENSG00000165323	23112		202	3.155		HGNC	p.N3223Y		FAT3		SNV							ENST00000525166	protein_coding	getma.org/?cm=var&var=hg19,11,92569762,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		N/Y		T	medium	10134/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=3346&re=3437&var=N3373Y		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Asn3373Tyr,ENST00000298047,;FAT3,missense_variant,p.Asn3373Tyr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asn3223Tyr,ENST00000525166,;							MODERATE	10117/13770	N3373Y	FAT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000298047					1	
FIGN	0	LGGM	GRCh37	2	164467278	164467278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	25	16	.	.	ENST00000333129.3:c.1064G>T	p.Ser355Ile	p.S355I	ENST00000333129	NM_018086.2	355	aGc/aTc	0	1	1	UPI000022BD13	0	NA	ENST00000333129		ENSG00000182263	13285		41	1.39		HGNC	p.S355I		FIGN		SNV							ENST00000333129	protein_coding	getma.org/?cm=var&var=hg19,2,164467278,C,A&fts=all		hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074		S/I		A	low	1379/9536		getma.org/?cm=msa&ty=f&p=FIGN_HUMAN&rb=229&re=417&var=S355I	deleterious(0.02)				YES	FIGN,missense_variant,p.Ser355Ile,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;							MODERATE	1064/2280	S355I	FIGN_HUMAN			Transcript		benign(0.235)	.	ENSP00000333836		CCDS2221.2			1	
C1QBP	0	LGGM	GRCh37	17	5337042	5337042	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	17	17	.	.	ENST00000225698.4:c.523A>C	p.Asn175His	p.N175H	ENST00000225698	NM_001212.3	175	Aat/Cat	0	1	1	UPI000012EAEC	0	getma.org/pdb.php?prot=C1QBP_HUMAN&from=86&to=279&var=N175H	ENST00000225698		ENSG00000108561	1243		34	0.205		HGNC	p.N175H		C1QBP		SNV							ENST00000225698	protein_coding	getma.org/?cm=var&var=hg19,17,5337042,T,G&fts=all		hmmpanther:PTHR10826,hmmpanther:PTHR10826:SF1,Pfam_domain:PF02330,Gene3D:1p32C00,Superfamily_domains:SSF54529		N/H		G	neutral	605/1169		getma.org/?cm=msa&ty=f&p=C1QBP_HUMAN&rb=86&re=279&var=N175H	tolerated(0.09)	I3L3Q7_HUMAN,I3L3B0_HUMAN			YES	C1QBP,missense_variant,p.Asn175His,ENST00000225698,NM_001212.3;C1QBP,missense_variant,p.Asn71His,ENST00000574444,;C1QBP,missense_variant,p.Asn71His,ENST00000570805,;RPAIN,downstream_gene_variant,,ENST00000381209,NM_001033002.3;RPAIN,downstream_gene_variant,,ENST00000381208,NM_001160244.1;RPAIN,downstream_gene_variant,,ENST00000536255,NM_001160246.1;RPAIN,downstream_gene_variant,,ENST00000327154,NM_001160266.1;C1QBP,downstream_gene_variant,,ENST00000576122,;CTC-524C5.2,upstream_gene_variant,,ENST00000575890,;C1QBP,non_coding_transcript_exon_variant,,ENST00000573204,;C1QBP,non_coding_transcript_exon_variant,,ENST00000573421,;RPAIN,downstream_gene_variant,,ENST00000575112,;RPAIN,downstream_gene_variant,,ENST00000573126,;RPAIN,downstream_gene_variant,,ENST00000571613,;RPAIN,downstream_gene_variant,,ENST00000571043,;RPAIN,downstream_gene_variant,,ENST00000539417,;RPAIN,downstream_gene_variant,,ENST00000571558,;RPAIN,downstream_gene_variant,,ENST00000575599,;RPAIN,downstream_gene_variant,,ENST00000573577,;C1QBP,downstream_gene_variant,,ENST00000573406,;							MODERATE	523/849	N175H	C1QBP_HUMAN			Transcript		benign(0.034)	.	ENSP00000225698		CCDS11071.1			1	
UBE3C	0	LGGM	GRCh37	7	156974947	156974947	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	48	18	.	.	ENST00000348165.5:c.916A>T	p.Ser306Cys	p.S306C	ENST00000348165	NM_014671.2	306	Agt/Tgt	0	1	1	UPI000020E72A	0	NA	ENST00000348165		ENSG00000009335	16803		66	1.245		HGNC	p.S263C		UBE3C		SNV							ENST00000389103	protein_coding	getma.org/?cm=var&var=hg19,7,156974947,A,T&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85		S/C		T	low	1276/5229		getma.org/?cm=msa&ty=f&p=UBE3C_HUMAN&rb=67&re=657&var=S306C	tolerated(0.05)				YES	UBE3C,missense_variant,p.Ser306Cys,ENST00000348165,NM_014671.2;UBE3C,missense_variant,p.Ser263Cys,ENST00000389103,;							MODERATE	916/3252	S306C	UBE3C_HUMAN			Transcript		benign(0.198)	.	ENSP00000309198		CCDS34789.1			1	
KRIT1	0	LGGM	GRCh37	7	91863839	91863839	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	42	18	.	.	ENST00000394507.1:c.913A>G	p.Ser305Gly	p.S305G	ENST00000394507	NM_194456.1	305	Agc/Ggc	0	1		UPI000006F5AA	0	getma.org/pdb.php?prot=KRIT1_HUMAN&from=201&to=355&var=S305G	ENST00000340022		ENSG00000001631	1573		60	1.325		HGNC	p.S67G		KRIT1		SNV			1				ENST00000445516	protein_coding	getma.org/?cm=var&var=hg19,7,91863839,T,C&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50297,hmmpanther:PTHR13283,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		S/G		C	low	1932/4553		getma.org/?cm=msa&ty=f&p=KRIT1_HUMAN&rb=201&re=355&var=S305G	tolerated(0.45)	C9JXI9_HUMAN,C9JSG7_HUMAN,C9JJM9_HUMAN,C9JI47_HUMAN,C9JF32_HUMAN,C9JEW7_HUMAN,C9JD81_HUMAN,C9JBN7_HUMAN,C9J718_HUMAN,C9J3W7_HUMAN,A4D1F7_HUMAN				KRIT1,missense_variant,p.Ser305Gly,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Ser305Gly,ENST00000340022,NM_004912.3,NM_194455.1;KRIT1,missense_variant,p.Ser305Gly,ENST00000412043,;KRIT1,missense_variant,p.Ser305Gly,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Ser67Gly,ENST00000445516,;KRIT1,intron_variant,,ENST00000394503,NM_001013406.1;KRIT1,downstream_gene_variant,,ENST00000458177,;KRIT1,downstream_gene_variant,,ENST00000454017,;KRIT1,downstream_gene_variant,,ENST00000433016,;KRIT1,downstream_gene_variant,,ENST00000430102,;KRIT1,downstream_gene_variant,,ENST00000440209,;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,non_coding_transcript_exon_variant,,ENST00000475770,;							MODERATE	913/2211	S305G	KRIT1_HUMAN			Transcript		benign(0.022)	.	ENSP00000344668		CCDS5624.1			1	
KIAA0556	0	LGGM	GRCh37	16	27772828	27772828	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	22	19	.	.	ENST00000261588.4:c.3726C>T	p.Pro1242=	p.P1242=	ENST00000261588	NM_015202.2	1242	ccC/ccT	0	1	1	UPI000045693C	0		ENST00000261588		ENSG00000047578	29068		41			HGNC	p.P1242P		KIAA0556		SNV							ENST00000261588	protein_coding			Pfam_domain:PF14652,hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0		P		T		3745/6616				B4DHT8_HUMAN			YES	KIAA0556,synonymous_variant,p.=,ENST00000261588,NM_015202.2;							LOW	3726/4857		K0556_HUMAN			Transcript			.	ENSP00000261588		CCDS32415.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	30	19	.	.	ENST00000349496.5:c.97T>G	p.Ser33Ala	p.S33A	ENST00000349496	NM_001904.3	33	Tct/Gct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33A	ENST00000349496		ENSG00000168036	2514		49	2.46		HGNC	p.S33A	COSM5683	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/A		G	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Ala,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Ala,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33A	CTNB1_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000344456		CCDS2694.1			1	
KRIT1	0	LGGM	GRCh37	7	91863853	91863853	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	46	19	.	.	ENST00000394507.1:c.899A>C	p.Asp300Ala	p.D300A	ENST00000394507	NM_194456.1	300	gAt/gCt	0	1		UPI000006F5AA	0	getma.org/pdb.php?prot=KRIT1_HUMAN&from=201&to=355&var=D300A	ENST00000340022		ENSG00000001631	1573		65	1.875		HGNC	p.D62A		KRIT1		SNV			1				ENST00000445516	protein_coding	getma.org/?cm=var&var=hg19,7,91863853,T,G&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR13283,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		D/A		G	low	1918/4553		getma.org/?cm=msa&ty=f&p=KRIT1_HUMAN&rb=201&re=355&var=D300A	deleterious(0.01)	C9JXI9_HUMAN,C9JSG7_HUMAN,C9JJM9_HUMAN,C9JI47_HUMAN,C9JF32_HUMAN,C9JEW7_HUMAN,C9JD81_HUMAN,C9JBN7_HUMAN,C9J718_HUMAN,C9J3W7_HUMAN,A4D1F7_HUMAN				KRIT1,missense_variant,p.Asp300Ala,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Asp300Ala,ENST00000340022,NM_004912.3,NM_194455.1;KRIT1,missense_variant,p.Asp300Ala,ENST00000412043,;KRIT1,missense_variant,p.Asp300Ala,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Asp62Ala,ENST00000445516,;KRIT1,intron_variant,,ENST00000394503,NM_001013406.1;KRIT1,downstream_gene_variant,,ENST00000458177,;KRIT1,downstream_gene_variant,,ENST00000454017,;KRIT1,downstream_gene_variant,,ENST00000433016,;KRIT1,downstream_gene_variant,,ENST00000430102,;KRIT1,downstream_gene_variant,,ENST00000440209,;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,non_coding_transcript_exon_variant,,ENST00000475770,;							MODERATE	899/2211	D300A	KRIT1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000344668		CCDS5624.1			1	
ZP4	0	LGGM	GRCh37	1	238050787	238050787	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	66	19	.	.	ENST00000366570.4:c.628T>C	p.Leu210=	p.L210=	ENST00000366570	NM_021186.3	210	Ttg/Ctg	0	1	1	UPI000006F0E4	0		ENST00000366570		ENSG00000116996	15770		85			HGNC	p.L210L		ZP4		SNV							ENST00000366570	protein_coding			SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034		L		G		787/1799							YES	ZP4,synonymous_variant,p.=,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;							LOW	628/1623		ZP4_HUMAN			Transcript			.	ENSP00000355529		CCDS1615.1			1	
SPEN	0	LGGM	GRCh37	1	16237743	16237743	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	20	20	.	.	ENST00000375759.3:c.1190A>C	p.Lys397Thr	p.K397T	ENST00000375759	NM_015001.2	397	aAa/aCa	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		40	1.935		HGNC	p.K397T		SPEN		SNV							ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16237743,A,C&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		K/T		C	medium	1394/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=337&re=407&var=K397T					YES	SPEN,missense_variant,p.Lys397Thr,ENST00000375759,NM_015001.2;SPEN,missense_variant,p.Lys356Thr,ENST00000438066,;SPEN,missense_variant,p.Lys137Thr,ENST00000442985,;snoU13,downstream_gene_variant,,ENST00000459258,;							MODERATE	1190/10995	K397T	MINT_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364912		CCDS164.1			1	
INTS9	0	LGGM	GRCh37	8	28716985	28716985	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	31	20	.	.	ENST00000521022.1:c.105C>T	p.Thr35=	p.T35=	ENST00000521022	NM_018250.3	35	acC/acT	0	1	1	UPI0000071C2E	0		ENST00000521022		ENSG00000104299	25592		51			HGNC	p.T12T		INTS9		SNV							ENST00000520437	protein_coding			Gene3D:3.60.15.10,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF2		T		A		187/2544				H7BYQ6_HUMAN,E5RJ88_HUMAN			YES	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.=,ENST00000523436,;INTS9,synonymous_variant,p.=,ENST00000524081,;INTS9,synonymous_variant,p.=,ENST00000520184,;INTS9,intron_variant,,ENST00000397363,;INTS9,synonymous_variant,p.=,ENST00000523303,;INTS9,synonymous_variant,p.=,ENST00000518510,;INTS9,synonymous_variant,p.=,ENST00000520437,;INTS9,non_coding_transcript_exon_variant,,ENST00000520983,;INTS9,non_coding_transcript_exon_variant,,ENST00000520831,;INTS9,intron_variant,,ENST00000522363,;							LOW	105/1977		INT9_HUMAN			Transcript			.	ENSP00000429065		CCDS34873.1			1	
STK3	0	LGGM	GRCh37	8	99735164	99735164	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	87	20	.	.	ENST00000523601.1:c.436-15625A>G		*146*	ENST00000523601	NM_001256312.1			0	1		UPI000006FDDC	0		ENST00000419617		ENSG00000104375	11406		107			HGNC	p.S129G		STK3		SNV							ENST00000424861	protein_coding							C		-/2820								STK3,intron_variant,,ENST00000523601,NM_001256312.1;STK3,intron_variant,,ENST00000419617,NM_006281.3;STK3,intron_variant,,ENST00000518165,;STK3,missense_variant,p.Ser129Gly,ENST00000424861,;STK3,intron_variant,,ENST00000521649,;							MODIFIER	-/1476		STK3_HUMAN			Transcript			.	ENSP00000390500		CCDS47900.1			1	
SHROOM3	0	LGGM	GRCh37	4	77675644	77675644	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	35	20	.	.	ENST00000296043.6:c.4008G>A	p.Leu1336=	p.L1336=	ENST00000296043	NM_020859.3	1336	ctG/ctA	0	1	1	UPI0000E5AC1C	0		ENST00000296043		ENSG00000138771	30422		55			HGNC	p.L1336L		SHROOM3		SNV			1				ENST00000296043	protein_coding			hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012		L		A		4961/11020							YES	SHROOM3,synonymous_variant,p.=,ENST00000296043,NM_020859.3;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,non_coding_transcript_exon_variant,,ENST00000469923,;							LOW	4008/5991		SHRM3_HUMAN			Transcript			.	ENSP00000296043		CCDS3579.2			1	
SLIT2	0	LGGM	GRCh37	4	20270502	20270502	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	33	21	.	.	ENST00000504154.1:c.393G>A	p.Arg131=	p.R131=	ENST00000504154	NM_004787.1	131	agG/agA	0	1	1	UPI00000747E4	0		ENST00000504154		ENSG00000145147	11086		54			HGNC	p.R131R		SLIT2		SNV							ENST00000504154	protein_coding			PROSITE_profiles:PS51450,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		R		A		645/6390				Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,splice_region_variant,p.=,ENST00000504154,NM_004787.1;SLIT2,splice_region_variant,p.=,ENST00000503823,;SLIT2,splice_region_variant,p.=,ENST00000273739,;SLIT2,splice_region_variant,p.=,ENST00000503837,;SLIT2,splice_region_variant,p.=,ENST00000508824,;							LOW	393/4590		SLIT2_HUMAN			Transcript			.	ENSP00000422591		CCDS3426.1			1	
SORCS3	0	LGGM	GRCh37	10	107015519	107015519	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	20	22	.	.	ENST00000369701.3:c.3297G>T	p.Pro1099=	p.P1099=	ENST00000369701	NM_014978.1	1099	ccG/ccT	0	1	1	UPI0000135CE1	0		ENST00000369701		ENSG00000156395	16699		42			HGNC	p.P1099P	rs144793546	SORCS3	6.08E-05	SNV	A:0.0014						ENST00000369701	protein_coding		A:0	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10		P	A:0.0066	T		3524/5757				B7Z891_HUMAN	A:0.0086	A:0	YES	SORCS3,synonymous_variant,p.=,ENST00000369701,NM_014978.1;		A:0.0038					LOW	3297/3669		SORC3_HUMAN		A:0.0129	Transcript			.	ENSP00000358715	1.65E-05	CCDS7558.1		A:0	1	
CNOT11	0	LGGM	GRCh37	2	101883336	101883336	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	30	22	.	.	ENST00000289382.3:c.1233A>G	p.Val411=	p.V411=	ENST00000289382	NM_017546.4	411	gtA/gtG	0	1	1	UPI00000715FD	0		ENST00000289382		ENSG00000158435	25217		52			HGNC	p.V411V		CNOT11		SNV							ENST00000289382	protein_coding			Pfam_domain:PF10155,hmmpanther:PTHR15975		V		G		1396/2599				B3KNB0_HUMAN			YES	CNOT11,synonymous_variant,p.=,ENST00000289382,NM_017546.4;CNOT11,synonymous_variant,p.=,ENST00000420107,;RNF149,downstream_gene_variant,,ENST00000485752,;RNF149,downstream_gene_variant,,ENST00000424632,;CNOT11,downstream_gene_variant,,ENST00000462489,;							LOW	1233/1533		CNO11_HUMAN			Transcript			.	ENSP00000289382		CCDS2050.1			1	
VCAN	0	LGGM	GRCh37	5	82786147	82786147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	40	23	.	.	ENST00000265077.3:c.301G>T	p.Val101Leu	p.V101L	ENST00000265077	NM_004385.4	101	Gtg/Ttg	0	1	1	UPI000013178B	0	getma.org/pdb.php?prot=CSPG2_HUMAN&from=23&to=147&var=V101L	ENST00000265077		ENSG00000038427	2464		63	2.15		HGNC	p.V101L	rs758097509	VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82786147,G,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50835		V/L		T	medium	866/12625	3.00E-05	getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=23&re=147&var=V101L	deleterious(0)				YES	VCAN,missense_variant,p.Val101Leu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Val101Leu,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Val101Leu,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Val53Leu,ENST00000512590,;VCAN,missense_variant,p.Val101Leu,ENST00000513960,;VCAN,missense_variant,p.Val101Leu,ENST00000502527,;VCAN,missense_variant,p.Val101Leu,ENST00000513984,;							MODERATE	301/10191	V101L	CSPG2_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000265077	1.65E-05	CCDS4060.1			1	
TP53BP1	0	LGGM	GRCh37	15	43749376	43749376	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	32	23	.	.	ENST00000382044.4:c.1430A>G	p.Asn477Ser	p.N477S	ENST00000382044	NM_001141980.1	477	aAt/aGt	0	1		UPI0000131031	0	NA	ENST00000263801		ENSG00000067369	11999		55	1.725		HGNC	p.N477S		TP53BP1		SNV							ENST00000450115	protein_coding	getma.org/?cm=var&var=hg19,15,43749376,T,C&fts=all		hmmpanther:PTHR15321		N/S		C	low	1668/6346		getma.org/?cm=msa&ty=f&p=TP53B_HUMAN&rb=401&re=600&var=N472S	tolerated(0.69)	B3KVT9_HUMAN				TP53BP1,missense_variant,p.Asn472Ser,ENST00000263801,NM_005657.2;TP53BP1,missense_variant,p.Asn477Ser,ENST00000382044,NM_001141980.1,NM_001141979.1;TP53BP1,missense_variant,p.Asn477Ser,ENST00000450115,;TP53BP1,missense_variant,p.Asn477Ser,ENST00000382039,;TP53BP1,missense_variant,p.Asn477Ser,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,;							MODERATE	1415/5919	N472S	TP53B_HUMAN			Transcript		benign(0.002)	.	ENSP00000263801		CCDS10096.1			1	
TRIM5	0	LGGM	GRCh37	11	5686273	5686273	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	42	23	.	.	ENST00000380034.3:c.1248T>C	p.Ser416=	p.S416=	ENST00000380034	NM_033034.2	416	agT/agC	0	1	1	UPI00000717A7	0		ENST00000380034		ENSG00000132256	16276		65			HGNC	p.S416S		TRIM5		SNV							ENST00000305836	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF49,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		S		G		1505/2991				L7REZ6_HUMAN,L7RET5_HUMAN,E7EQQ5_HUMAN,D8L201_HUMAN,C9JWN8_HUMAN			YES	TRIM5,synonymous_variant,p.=,ENST00000305836,;TRIM5,synonymous_variant,p.=,ENST00000380034,NM_033034.2,NM_033092.2;TRIM5,3_prime_UTR_variant,,ENST00000396847,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000396855,NM_033093.2;TRIM5,intron_variant,,ENST00000396853,;TRIM5,intron_variant,,ENST00000438025,;TRIM5,intron_variant,,ENST00000483835,;TRIM5,downstream_gene_variant,,ENST00000492086,;TRIM5,downstream_gene_variant,,ENST00000465634,;TRIM5,3_prime_UTR_variant,,ENST00000433961,;							LOW	1248/1482		TRIM5_HUMAN			Transcript			.	ENSP00000369373		CCDS31393.1			1	
TRIM13	0	LGGM	GRCh37	13	50586839	50586839	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	30	24	.	.	ENST00000356017.4:c.772T>G	p.Phe258Val	p.F258V	ENST00000356017		258	Ttt/Gtt	0	1		UPI000000D8B1	0	NA	ENST00000378182		ENSG00000204977	9976		54	1.04		HGNC	p.F255V		TRIM13		SNV							ENST00000378183	protein_coding	getma.org/?cm=var&var=hg19,13,50586839,T,G&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF252		F/V		G	low	1501/7249		getma.org/?cm=msa&ty=f&p=TRI13_HUMAN&rb=145&re=313&var=F255V	tolerated(0.09)					TRIM13,missense_variant,p.Phe255Val,ENST00000378182,NM_213590.1,NM_001007278.1,NM_052811.2,NM_005798.3;TRIM13,missense_variant,p.Phe255Val,ENST00000420995,;TRIM13,missense_variant,p.Phe258Val,ENST00000356017,;TRIM13,missense_variant,p.Phe255Val,ENST00000457662,;TRIM13,missense_variant,p.Phe255Val,ENST00000378183,;TRIM13,missense_variant,p.Phe258Val,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,NM_199464.2;KCNRG,upstream_gene_variant,,ENST00000312942,NM_173605.1;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;							MODERATE	763/1224	F255V	TRI13_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000367424		CCDS9423.1			1	
RIF1	0	LGGM	GRCh37	2	152311524	152311524	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	54	27	.	.	ENST00000243326.5:c.2460G>A	p.Lys820=	p.K820=	ENST00000243326		820	aaG/aaA	0	1	1	UPI000023729F	0		ENST00000243326		ENSG00000080345	23207		81			HGNC	p.K820K		RIF1		SNV							ENST00000430328	protein_coding			hmmpanther:PTHR22928,Superfamily_domains:SSF48371		K		A		2943/15003				C9J1D6_HUMAN,B4DRJ4_HUMAN			YES	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.=,ENST00000414861,;							LOW	2460/7419		RIF1_HUMAN			Transcript			.	ENSP00000243326		CCDS2194.1			1	
NDUFAF1	0	LGGM	GRCh37	15	41679686	41679686	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	38	27	.	.	ENST00000260361.4:c.940G>C	p.Ala314Pro	p.A314P	ENST00000260361	NM_016013.3	314	Gcc/Ccc	0	1	1	UPI0000127985	0	NA	ENST00000260361		ENSG00000137806	18828		65	1.83		HGNC	p.A314P		NDUFAF1		SNV			1				ENST00000260361	protein_coding	getma.org/?cm=var&var=hg19,15,41679686,C,G&fts=all		hmmpanther:PTHR13194,hmmpanther:PTHR13194:SF18		A/P		G	low	1322/1457		getma.org/?cm=msa&ty=f&p=CIA30_HUMAN&rb=269&re=327&var=A314P	deleterious(0.03)	H0YNN4_HUMAN,H0YNB7_HUMAN			YES	NDUFAF1,missense_variant,p.Ala314Pro,ENST00000260361,NM_016013.3;NDUFAF1,downstream_gene_variant,,ENST00000559127,;							MODERATE	940/984	A314P	CIA30_HUMAN			Transcript		benign(0.32)	.	ENSP00000260361		CCDS10075.1			1	
SEMA4G	0	LGGM	GRCh37	10	102739636	102739636	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	45	28	.	.	ENST00000210633.3:c.1015T>G	p.Tyr339Asp	p.Y339D	ENST00000210633		339	Tat/Gat	0	1		UPI0000044D3A	0	getma.org/pdb.php?prot=SEM4G_HUMAN&from=56&to=489&var=Y339D	ENST00000370250		ENSG00000095539	10735		73	3.44		HGNC	p.Y339D		SEMA4G		SNV							ENST00000517724	protein_coding	getma.org/?cm=var&var=hg19,10,102739636,T,G&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF17,SMART_domains:SM00630,Superfamily_domains:SSF101912		Y/D		G	medium	1388/3596		getma.org/?cm=msa&ty=f&p=SEM4G_HUMAN&rb=56&re=489&var=Y339D	deleterious(0)	E5RGX4_HUMAN,E5RFG2_HUMAN				SEMA4G,missense_variant,p.Tyr339Asp,ENST00000210633,;SEMA4G,missense_variant,p.Tyr339Asp,ENST00000370250,NM_017893.3;SEMA4G,missense_variant,p.Tyr339Asp,ENST00000517724,NM_001203244.1;SEMA4G,missense_variant,p.Tyr339Asp,ENST00000519649,;MRPL43,intron_variant,,ENST00000318325,NM_176792.2;MRPL43,intron_variant,,ENST00000370242,;MRPL43,intron_variant,,ENST00000523148,;MRPL43,intron_variant,,ENST00000370241,;MRPL43,downstream_gene_variant,,ENST00000342071,NM_176794.1;MRPL43,downstream_gene_variant,,ENST00000299179,NM_176793.1;MRPL43,downstream_gene_variant,,ENST00000448244,;SEMA4G,downstream_gene_variant,,ENST00000518124,;SEMA4G,upstream_gene_variant,,ENST00000476171,;MIR608,downstream_gene_variant,,ENST00000384820,;RP11-108L7.4,downstream_gene_variant,,ENST00000447344,;SEMA4G,downstream_gene_variant,,ENST00000519756,;SEMA4G,upstream_gene_variant,,ENST00000484128,;MRPL43,downstream_gene_variant,,ENST00000476012,;SEMA4G,missense_variant,p.Tyr339Asp,ENST00000521006,;SEMA4G,upstream_gene_variant,,ENST00000518948,;							MODERATE	1015/2517	Y339D	SEM4G_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000359270					1	
FAT3	0	LGGM	GRCh37	11	92535039	92535039	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	42	28	.	.	ENST00000298047.6:c.8860T>A	p.Ser2954Thr	p.S2954T	ENST00000298047		2954	Tcc/Acc	0	1	1	UPI000050B6C6	0	NA	ENST00000298047		ENSG00000165323	23112		70	0.74		HGNC	p.S2804T		FAT3		SNV							ENST00000525166	protein_coding	getma.org/?cm=var&var=hg19,11,92535039,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		S/T		A	neutral	8877/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=2929&re=3020&var=S2954T		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Ser2954Thr,ENST00000298047,;FAT3,missense_variant,p.Ser2954Thr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser2804Thr,ENST00000525166,;							MODERATE	8860/13770	S2954T	FAT3_HUMAN			Transcript		possibly_damaging(0.557)	.	ENSP00000298047					1	
DERL1	0	LGGM	GRCh37	8	124035952	124035952	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	19	29	.	.	ENST00000259512.4:c.357+1G>T		p.X119_splice	ENST00000259512	NM_024295.5			0	1	1	UPI0000048EAA	0		ENST00000259512		ENSG00000136986	28454		48			HGNC	-		DERL1		SNV							ENST00000259512	protein_coding							A		-/3340				E5RGY0_HUMAN			YES	DERL1,splice_donor_variant,,ENST00000259512,NM_024295.5,NM_001134671.2;DERL1,splice_donor_variant,,ENST00000405944,;DERL1,splice_donor_variant,,ENST00000519018,;DERL1,splice_donor_variant,,ENST00000523036,;DERL1,intron_variant,,ENST00000419562,;RP11-557C18.3,intron_variant,,ENST00000521258,;DERL1,splice_donor_variant,,ENST00000524119,;							HIGH	357/756		DERL1_HUMAN			Transcript			.	ENSP00000259512		CCDS6337.1			1	
KIAA1377	0	LGGM	GRCh37	11	101833778	101833778	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	46	29	.	.	ENST00000263468.8:c.2012G>A	p.Ser671Asn	p.S671N	ENST00000263468	NM_020802.2	671	aGc/aAc	0	1	1	UPI0000160A3D	0	NA	ENST00000263468		ENSG00000110318	29264		75	0.885		HGNC	p.S671N		KIAA1377		SNV			1				ENST00000263468	protein_coding	getma.org/?cm=var&var=hg19,11,101833778,G,A&fts=all		Pfam_domain:PF15352,hmmpanther:PTHR31191		S/N		A	low	2282/7039		getma.org/?cm=msa&ty=f&p=K1377_HUMAN&rb=41&re=1101&var=S671N	tolerated(0.35)	F5H5S1_HUMAN			YES	KIAA1377,missense_variant,p.Ser671Asn,ENST00000263468,NM_020802.2;KIAA1377,missense_variant,p.Ser472Asn,ENST00000537689,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;							MODERATE	2012/3354	S671N	K1377_HUMAN			Transcript		benign(0.045)	.	ENSP00000263468		CCDS31658.1			1	
MYO1D	0	LGGM	GRCh37	17	30932193	30932193	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	28	29	.	.	ENST00000318217.5:c.2776G>C	p.Asp926His	p.D926H	ENST00000318217	NM_015194.1	926	Gac/Cac	0	1	1	UPI0000186004	0	NA	ENST00000318217		ENSG00000176658	7598		57	2.645		HGNC	p.D926H		MYO1D		SNV							ENST00000579584	protein_coding	getma.org/?cm=var&var=hg19,17,30932193,C,G&fts=all		Pfam_domain:PF06017		D/H		G	medium	3081/5563		getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=802&re=1005&var=D926H	deleterious(0)	Q8N618_HUMAN,K7EIG7_HUMAN			YES	MYO1D,missense_variant,p.Asp926His,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Asp838His,ENST00000394649,;MYO1D,missense_variant,p.Asp926His,ENST00000579584,;MYO1D,upstream_gene_variant,,ENST00000580547,;MYO1D,non_coding_transcript_exon_variant,,ENST00000577352,;							MODERATE	2776/3021	D926H	MYO1D_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324527		CCDS32615.1			1	
ALMS1	0	LGGM	GRCh37	2	73675768	73675768	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	60	31	.	.	ENST00000264448.6:c.2111A>C	p.Lys704Thr	p.K704T	ENST00000264448	NM_015120.4	704	aAg/aCg	0	1	1	UPI0000212786	0	NA	ENST00000264448		ENSG00000116127	428		91	1.01		HGNC	p.K704T		ALMS1		SNV			1				ENST00000264448	protein_coding	getma.org/?cm=var&var=hg19,2,73675768,A,C&fts=all				K/T		C	low	2222/12922		getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=K704T		A6NMY3_HUMAN			YES	ALMS1,missense_variant,p.Lys704Thr,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Lys662Thr,ENST00000409009,;ALMS1,missense_variant,p.Lys704Thr,ENST00000377715,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;							MODERATE	2111/12504	K704T	ALMS1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000264448		CCDS42697.1			1	
SFTA3	0	LGGM	GRCh37	14	36946254	36946254	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	25	32	.	.	ENST00000518529.2:c.183G>A	p.Val61=	p.V61=	ENST00000518529	NM_001101341.1	61	gtG/gtA	0	1	1	UPI0000252004	0		ENST00000518529		ENSG00000229415	18387		57			HGNC	p.V61V		SFTA3		SNV							ENST00000518529	protein_coding					V		T		859/1531							YES	SFTA3,synonymous_variant,p.=,ENST00000518529,NM_001101341.1;RP11-896J10.3,non_coding_transcript_exon_variant,,ENST00000521945,;SFTA3,non_coding_transcript_exon_variant,,ENST00000521380,;SFTA3,intron_variant,,ENST00000518987,;SFTA3,synonymous_variant,p.=,ENST00000518002,;SFTA3,3_prime_UTR_variant,,ENST00000521114,;SFTA3,3_prime_UTR_variant,,ENST00000518446,;SFTA3,3_prime_UTR_variant,,ENST00000524122,;SFTA3,non_coding_transcript_exon_variant,,ENST00000519052,;SFTA3,non_coding_transcript_exon_variant,,ENST00000418548,;							LOW	183/285		SFTA3_HUMAN			Transcript			.	ENSP00000428331		CCDS45097.1			1	
ALMS1	0	LGGM	GRCh37	2	73675774	73675774	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	64	32	.	.	ENST00000264448.6:c.2117G>T	p.Gly706Val	p.G706V	ENST00000264448	NM_015120.4	706	gGg/gTg	0	1	1	UPI0000212786	0	NA	ENST00000264448		ENSG00000116127	428		96	1.15		HGNC	p.G706V		ALMS1		SNV			1				ENST00000264448	protein_coding	getma.org/?cm=var&var=hg19,2,73675774,G,T&fts=all				G/V		T	low	2228/12922		getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=G706V		A6NMY3_HUMAN			YES	ALMS1,missense_variant,p.Gly706Val,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Gly664Val,ENST00000409009,;ALMS1,missense_variant,p.Gly706Val,ENST00000377715,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;							MODERATE	2117/12504	G706V	ALMS1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000264448		CCDS42697.1			1	
NAT2	0	LGGM	GRCh37	8	18257697	18257697	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	47	33	.	.	ENST00000286479.3:c.184A>C	p.Arg62=	p.R62=	ENST00000286479	NM_000015.2	62	Aga/Cga	0	1	1	UPI000013DE51	0		ENST00000286479		ENSG00000156006	7646		80			HGNC	p.R62R		NAT2		SNV			1				ENST00000286479	protein_coding			hmmpanther:PTHR11786,hmmpanther:PTHR11786:SF6,Pfam_domain:PF00797,Gene3D:1w5rA01,Superfamily_domains:SSF54001,Prints_domain:PR01543		R		C		291/1322				Q400I7_HUMAN,E7EWF9_HUMAN,A4Z6T7_HUMAN			YES	NAT2,synonymous_variant,p.=,ENST00000286479,NM_000015.2;NAT2,intron_variant,,ENST00000520116,;							LOW	184/873		ARY2_HUMAN			Transcript			.	ENSP00000286479		CCDS6008.1			1	
ASPM	0	LGGM	GRCh37	1	197094005	197094005	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	132	33	.	.	ENST00000367409.4:c.3163T>A	p.Phe1055Ile	p.F1055I	ENST00000367409	NM_018136.4	1055	Ttt/Att	0	1	1	UPI0000458904	0	getma.org/pdb.php?prot=ASPM_HUMAN&from=920&to=1056&var=F1055I	ENST00000367409		ENSG00000066279	19048		165	3.22		HGNC	p.F305I		ASPM		SNV			1				ENST00000367408	protein_coding	getma.org/?cm=var&var=hg19,1,197094005,A,T&fts=all		Gene3D:1.10.418.10,PROSITE_profiles:PS50021,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,Superfamily_domains:SSF47576		F/I		T	medium	3420/10887		getma.org/?cm=msa&ty=f&p=ASPM_HUMAN&rb=920&re=1056&var=F1055I	deleterious(0)				YES	ASPM,missense_variant,p.Phe1055Ile,ENST00000367409,NM_018136.4;ASPM,missense_variant,p.Phe1055Ile,ENST00000294732,NM_001206846.1;ASPM,missense_variant,p.Phe305Ile,ENST00000367408,;							MODERATE	3163/10434	F1055I	ASPM_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356379		CCDS1389.1			1	
NAT2	0	LGGM	GRCh37	8	18257686	18257686	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	41	33	.	.	ENST00000286479.3:c.173A>G	p.His58Arg	p.H58R	ENST00000286479	NM_000015.2	58	cAc/cGc	0	1	1	UPI000013DE51	0	getma.org/pdb.php?prot=ARY2_HUMAN&from=20&to=280&var=H58R	ENST00000286479		ENSG00000156006	7646		74	1.04		HGNC	p.H58R		NAT2		SNV			1				ENST00000286479	protein_coding	getma.org/?cm=var&var=hg19,8,18257686,A,G&fts=all		hmmpanther:PTHR11786,hmmpanther:PTHR11786:SF6,Pfam_domain:PF00797,Gene3D:1w5rA01,Superfamily_domains:SSF54001,Prints_domain:PR01543		H/R		G	low	280/1322		getma.org/?cm=msa&ty=f&p=ARY2_HUMAN&rb=20&re=280&var=H58R	tolerated(0.05)	Q400I7_HUMAN,E7EWF9_HUMAN,A4Z6T7_HUMAN			YES	NAT2,missense_variant,p.His58Arg,ENST00000286479,NM_000015.2;NAT2,intron_variant,,ENST00000520116,;							MODERATE	173/873	H58R	ARY2_HUMAN			Transcript		benign(0.017)	.	ENSP00000286479		CCDS6008.1			1	
TAF1L	0	LGGM	GRCh37	9	32633499	32633499	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	70	34	.	.	ENST00000242310.4:c.2079A>G	p.Lys693=	p.K693=	ENST00000242310	NM_153809.2	693	aaA/aaG	0	1	1	UPI000007408A	0		ENST00000242310		ENSG00000122728	18056		104			HGNC	p.K693K		TAF1L		SNV							ENST00000242310	protein_coding			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047		K		C		2169/6216							YES	TAF1L,synonymous_variant,p.=,ENST00000242310,NM_153809.2;RP11-555J4.4,non_coding_transcript_exon_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							LOW	2079/5481		TAF1L_HUMAN			Transcript			.	ENSP00000418379		CCDS35003.1			1	
RABEPK	0	LGGM	GRCh37	9	127996191	127996191	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	112	41	.	.	ENST00000373538.3:c.1051T>G	p.Leu351Val	p.L351V	ENST00000373538	NM_005833.3	351	Ttg/Gtg	0	1	1	UPI000013D058	0	NA	ENST00000373538		ENSG00000136933	16896		153	1.67		HGNC	p.L351V		RABEPK		SNV							ENST00000394125	protein_coding	getma.org/?cm=var&var=hg19,9,127996191,T,G&fts=all		hmmpanther:PTHR23244:SF257,hmmpanther:PTHR23244		L/V		G	low	1361/1504		getma.org/?cm=msa&ty=f&p=RABEK_HUMAN&rb=285&re=372&var=L351V	deleterious(0)				YES	RABEPK,missense_variant,p.Leu351Val,ENST00000373538,NM_005833.3;RABEPK,missense_variant,p.Leu351Val,ENST00000394125,NM_001174152.1;RABEPK,missense_variant,p.Leu300Val,ENST00000259460,NM_001174153.1;RABEPK,3_prime_UTR_variant,,ENST00000394124,;HSPA5,downstream_gene_variant,,ENST00000324460,NM_005347.4;							MODERATE	1051/1119	L351V	RABEK_HUMAN			Transcript		benign(0.201)	.	ENSP00000362639		CCDS6862.1			1	
TENM3	0	LGGM	GRCh37	4	183650322	183650322	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	96	42	.	.	ENST00000511685.1:c.2573C>G	p.Pro858Arg	p.P858R	ENST00000511685		858	cCt/cGt	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		138	1.79		HGNC	p.P858R		TENM3		SNV			1				ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183650322,C,G&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10		P/R		G	low	2696/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=709&re=865&var=P858R	deleterious(0)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Pro858Arg,ENST00000511685,;TENM3,missense_variant,p.Pro858Arg,ENST00000406950,NM_001080477.1;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;							MODERATE	2573/8100	P858R	TEN3_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000424226		CCDS47165.1			1	
MYH15	0	LGGM	GRCh37	3	108156425	108156425	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	56	45	.	.	ENST00000273353.3:c.3257G>C	p.Arg1086Pro	p.R1086P	ENST00000273353	NM_014981.1	1086	cGa/cCa	0	1	1	UPI0000253B6F	0	NA	ENST00000273353		ENSG00000144821	31073		101	1.15		HGNC	p.R1086P		MYH15		SNV							ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108156425,C,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,Superfamily_domains:SSF90257		R/P		G	low	3314/7074		getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=1080&re=1938&var=R1086P	deleterious(0.03)	H9XFA0_HUMAN			YES	MYH15,missense_variant,p.Arg1086Pro,ENST00000273353,NM_014981.1;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;							MODERATE	3257/5841	R1086P	MYH15_HUMAN			Transcript		possibly_damaging(0.518)	.	ENSP00000273353		CCDS43127.1			1	
ATF6	0	LGGM	GRCh37	1	161762087	161762087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	141	47	.	.	ENST00000367942.3:c.658A>G	p.Ile220Val	p.I220V	ENST00000367942	NM_007348.3	220	Att/Gtt	0	1	1	UPI000013D3E4	0	NA	ENST00000367942		ENSG00000118217	791		188	-0.345		HGNC	p.I220V	rs746718839	ATF6		SNV							ENST00000367942	protein_coding	getma.org/?cm=var&var=hg19,1,161762087,A,G&fts=all		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF10		I/V		G	neutral	725/7496	1.50E-05	getma.org/?cm=msa&ty=f&p=ATF6A_HUMAN&rb=201&re=304&var=I220V	tolerated(1)				YES	ATF6,missense_variant,p.Ile220Val,ENST00000367942,NM_007348.3;							MODERATE	658/2013	I220V	ATF6A_HUMAN			Transcript		benign(0.001)	.	ENSP00000356919	8.24E-06	CCDS1235.1			1	
YY1AP1	0	LGGM	GRCh37	1	155629502	155629502	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	126	48	.	.	ENST00000368339.5:c.2613A>T	p.Glu871Asp	p.E871D	ENST00000368339	NM_001198903.1	871	gaA/gaT	0	1		UPI0000141A85	0	NA	ENST00000295566		ENSG00000163374	30935		174	1.7		HGNC	p.E713D		YY1AP1		SNV							ENST00000404643	protein_coding	getma.org/?cm=var&var=hg19,1,155629502,T,A&fts=all		hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9		E/D		A	low	2361/2626		getma.org/?cm=msa&ty=f&p=YYAP1_HUMAN&rb=16&re=794&var=E779D	deleterious_low_confidence(0.05)	A3KFK2_HUMAN,A3KFK1_HUMAN				YY1AP1,missense_variant,p.Glu851Asp,ENST00000368340,NM_001198904.1;YY1AP1,missense_variant,p.Glu871Asp,ENST00000368339,NM_001198903.1;YY1AP1,missense_variant,p.Glu722Asp,ENST00000361831,NM_018253.3;YY1AP1,missense_variant,p.Glu702Asp,ENST00000407221,;YY1AP1,missense_variant,p.Glu722Asp,ENST00000359205,NM_001198900.1;YY1AP1,missense_variant,p.Glu702Asp,ENST00000311573,;YY1AP1,missense_variant,p.Glu733Asp,ENST00000355499,;YY1AP1,missense_variant,p.Glu713Asp,ENST00000404643,NM_139119.2,NM_001198905.1;YY1AP1,missense_variant,p.Glu779Asp,ENST00000295566,NM_139118.2,NM_001198906.1;YY1AP1,missense_variant,p.Glu733Asp,ENST00000368330,NM_139121.2,NM_001198901.1;YY1AP1,missense_variant,p.Glu733Asp,ENST00000347088,NM_001198902.1;YY1AP1,missense_variant,p.Glu579Asp,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,;							MODERATE	2337/2391	E779D	YYAP1_HUMAN			Transcript		possibly_damaging(0.717)	.	ENSP00000295566		CCDS1115.1			1	
MKI67	0	LGGM	GRCh37	10	129906772	129906772	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050150	H050150N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	98	50	.	.	ENST00000368654.3:c.3332C>T	p.Thr1111Ile	p.T1111I	ENST00000368654	NM_002417.4	1111	aCa/aTa	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		148	1.81		HGNC	p.T751I		MKI67		SNV							ENST00000368653	protein_coding	getma.org/?cm=var&var=hg19,10,129906772,G,A&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065		T/I		A	low	3708/12678		getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=1002&re=1113&var=T1111I	deleterious(0)				YES	MKI67,missense_variant,p.Thr1111Ile,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Thr751Ile,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,;							MODERATE	3332/9771	T1111I	KI67_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357643		CCDS7659.1			1	
ZNF814	0	LGGM	GRCh37	19	58388321	58388321	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050150	H050150N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	77	52	.	.	ENST00000435989.2:c.126T>C	p.Asp42=	p.D42=	ENST00000435989	NM_001144989.1	42	gaT/gaC	0	1	1	UPI0001662BAD	0		ENST00000435989		ENSG00000204514	33258		129			HGNC	p.D42D		ZNF814		SNV							ENST00000595894	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF3,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		D		G		361/3146							YES	ZNF814,synonymous_variant,p.=,ENST00000435989,NM_001144989.1;ZNF814,synonymous_variant,p.=,ENST00000597832,;ZNF814,synonymous_variant,p.=,ENST00000597807,;ZNF814,synonymous_variant,p.=,ENST00000597342,;ZNF814,synonymous_variant,p.=,ENST00000596604,;ZNF814,synonymous_variant,p.=,ENST00000600634,;ZNF814,synonymous_variant,p.=,ENST00000595048,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,non_coding_transcript_exon_variant,,ENST00000594629,;ZNF814,synonymous_variant,p.=,ENST00000597348,;ZNF814,synonymous_variant,p.=,ENST00000595894,;CTD-2583A14.9,3_prime_UTR_variant,,ENST00000602124,;							LOW	126/2568		ZN814_HUMAN			Transcript			.	ENSP00000410545		CCDS46212.1			1	
WIBG	0	LGGM	GRCh37	12	56295774	56295774	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	90	58	.	.	ENST00000408946.2:c.497A>T	p.Glu166Val	p.E166V	ENST00000408946	NM_032345.2	166	gAg/gTg	0	1	1	UPI0000071DF3	0	NA	ENST00000408946		ENSG00000170473	30258		148	1.865		HGNC	p.E165V		WIBG		SNV							ENST00000398213	protein_coding	getma.org/?cm=var&var=hg19,12,56295774,T,A&fts=all		hmmpanther:PTHR22959,hmmpanther:PTHR22959:SF0,Coiled-coils_(Ncoils):Coil		E/V		A	low	649/1226		getma.org/?cm=msa&ty=f&p=WIBG_HUMAN&rb=89&re=202&var=E166V	deleterious(0.01)				YES	WIBG,missense_variant,p.Glu166Val,ENST00000408946,NM_032345.2;WIBG,missense_variant,p.Glu165Val,ENST00000398213,NM_001143853.1;WIBG,3_prime_UTR_variant,,ENST00000557259,;WIBG,downstream_gene_variant,,ENST00000547925,;WIBG,non_coding_transcript_exon_variant,,ENST00000302533,;GSTP1P1,downstream_gene_variant,,ENST00000548078,;							MODERATE	497/615	E166V	WIBG_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000386156		CCDS41795.1			1	
PTGS1	0	LGGM	GRCh37	9	125154637	125154637	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	37	75	.	.	ENST00000362012.2:c.1614C>A	p.Ile538=	p.I538=	ENST00000362012	NM_000962.3	538	atC/atA	0	1	1	UPI0000161DAC	0		ENST00000362012		ENSG00000095303	9604		112			HGNC	p.I429I		PTGS1		SNV							ENST00000373698	protein_coding			Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF6,Superfamily_domains:SSF48113		I		A		1619/4964							YES	PTGS1,synonymous_variant,p.=,ENST00000362012,NM_000962.3,NM_001271164.1,NM_080591.2,NM_001271367.1;PTGS1,synonymous_variant,p.=,ENST00000223423,;PTGS1,synonymous_variant,p.=,ENST00000540753,NM_001271166.1,NM_001271368.1;PTGS1,synonymous_variant,p.=,ENST00000373698,NM_001271165.1;							LOW	1614/1800		PGH1_HUMAN			Transcript			.	ENSP00000354612		CCDS6842.1			1	
KRTAP19-2	0	LGGM	GRCh37	21	31859667	31859667	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	121	76	.	.	ENST00000334055.3:c.1A>G	p.Met1?	p.M1?	ENST00000334055	NM_181608.1	1	Atg/Gtg	0	1	1	UPI00001A9E55	0		ENST00000334055		ENSG00000186965	18937		197			HGNC	p.M1V		KRTAP19-2		SNV							ENST00000334055	protein_coding					M/V		C		89/394			deleterious_low_confidence(0)				YES	KRTAP19-2,start_lost,p.Met1?,ENST00000334055,NM_181608.1;KRTAP19-3,downstream_gene_variant,,ENST00000334063,NM_181609.3;							HIGH	1/159		KR192_HUMAN			Transcript		unknown(0)	.	ENSP00000335660		CCDS13595.1			1	
CHST10	0	LGGM	GRCh37	2	101023130	101023130	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050150	H050150N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	128	80	.	.	ENST00000264249.3:c.8A>G	p.His3Arg	p.H3R	ENST00000264249	NM_004854.4	3	cAc/cGc	0	1	1	UPI0000073357	0	NA	ENST00000264249		ENSG00000115526	19650		208	0.255		HGNC	p.H3R		CHST10		SNV							ENST00000409701	protein_coding	getma.org/?cm=var&var=hg19,2,101023130,T,C&fts=all		Cleavage_site_(Signalp):SignalP-TM,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF2		H/R		C	neutral	394/2837		getma.org/?cm=msa&ty=f&p=CHSTA_HUMAN&rb=1&re=47&var=H3R	tolerated_low_confidence(0.25)	C9JUE4_HUMAN,C9JI33_HUMAN,C9JCK7_HUMAN,C9J5X0_HUMAN,B8ZZ48_HUMAN			YES	CHST10,missense_variant,p.His3Arg,ENST00000264249,NM_004854.4;CHST10,missense_variant,p.His51Arg,ENST00000542617,;CHST10,missense_variant,p.His3Arg,ENST00000409701,;CHST10,missense_variant,p.His3Arg,ENST00000418201,;CHST10,missense_variant,p.His3Arg,ENST00000435960,;CHST10,missense_variant,p.His3Arg,ENST00000409046,;CHST10,missense_variant,p.His51Arg,ENST00000448989,;CHST10,missense_variant,p.His3Arg,ENST00000420858,;CHST10,missense_variant,p.His3Arg,ENST00000421474,;CHST10,non_coding_transcript_exon_variant,,ENST00000484382,;CHST10,downstream_gene_variant,,ENST00000485085,;CHST10,downstream_gene_variant,,ENST00000487860,;							MODERATE	8/1071	H3R	CHSTA_HUMAN			Transcript		benign(0.004)	.	ENSP00000264249		CCDS2047.1			1	
OR2T3	0	LGGM	GRCh37	1	248637377	248637377	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050150	H050150N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050150N.bam, H050150T.bam	Illumina HiSeq	35	93	.	.	ENST00000359594.2:c.726C>T	p.Ala242=	p.A242=	ENST00000359594	NM_001005495.1	242	gcC/gcT	0	1	1	UPI00001D7CA5	0		ENST00000359594		ENSG00000196539	14727		128			HGNC	p.A242A		OR2T3		SNV							ENST00000359594	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		A		T		751/1008							YES	OR2T3,synonymous_variant,p.=,ENST00000359594,NM_001005495.1;							LOW	726/957		OR2T3_HUMAN			Transcript			.	ENSP00000352604		CCDS31117.1			1	
C8orf74	0	LGGM	GRCh37	8	10557916	10557916	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	10	2	.	.	ENST00000304519.5:c.820G>A	p.Gly274Ser	p.G274S	ENST00000304519	NM_001040032.1	274	Ggc/Agc	0	1	1	UPI00001D82A9	0	NA	ENST00000304519		ENSG00000171060	32296		12	1.935		HGNC	p.G274S		C8orf74		SNV							ENST00000304519	protein_coding	getma.org/?cm=var&var=hg19,8,10557916,G,A&fts=all				G/S		A	medium	849/1036		getma.org/?cm=msa&ty=f&p=CH074_HUMAN&rb=15&re=292&var=G274S	tolerated(0.15)				YES	C8orf74,missense_variant,p.Gly274Ser,ENST00000304519,NM_001040032.1;RP1L1,intron_variant,,ENST00000329335,;C8orf74,3_prime_UTR_variant,,ENST00000523289,;							MODERATE	820/885	G274S	CH074_HUMAN			Transcript		benign(0.104)	.	ENSP00000307129		CCDS47800.1			1	
SLX9	0	LGGM	GRCh37	21	46393148	46393148	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	4	2	.	.	ENST00000291634.6:c.537C>T	p.Ser179=	p.S179=	ENST00000291634	NM_058190.2	179	agC/agT	0	1	1	UPI00001286B9	0		ENST00000291634		ENSG00000160256	15811		6			HGNC	p.S164S		FAM207A		SNV							ENST00000397826	protein_coding			Pfam_domain:PF15341,hmmpanther:PTHR31109		S		T		585/927							YES	FAM207A,synonymous_variant,p.=,ENST00000291634,NM_058190.2;FAM207A,synonymous_variant,p.=,ENST00000397826,;FAM207A,downstream_gene_variant,,ENST00000458015,;FAM207A,non_coding_transcript_exon_variant,,ENST00000479127,;FAM207A,non_coding_transcript_exon_variant,,ENST00000485207,;							LOW	537/693		F207A_HUMAN			Transcript			.	ENSP00000291634		CCDS13718.1			1	
CNGA4	0	LGGM	GRCh37	11	6263099	6263099	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	16	2	.	.	ENST00000379936.2:c.1267+89A>G		*423*	ENST00000379936	NM_001037329.3			0	1	1	UPI000004C7EC	0		ENST00000379936		ENSG00000132259	2152		18			HGNC	p.S221S	rs745347122	CNGA4		SNV							ENST00000533426	protein_coding							G		-/1863							YES	CNGA4,synonymous_variant,p.=,ENST00000533426,;CNGA4,intron_variant,,ENST00000379936,NM_001037329.3;	0.000192						MODIFIER	-/1728		CNGA4_HUMAN			Transcript			.	ENSP00000369268	8.27E-06	CCDS31408.1			1	
PARP10	0	LGGM	GRCh37	8	145057678	145057678	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	4	2	.	.	ENST00000313028.7:c.2079G>T	p.Leu693Phe	p.L693F	ENST00000313028	NM_032789.3	693	ttG/ttT	0	1	1	UPI0000251FAB	0	NA	ENST00000313028		ENSG00000178685	25895		6	0.695		HGNC	p.L693F		PARP10		SNV							ENST00000313028	protein_coding	getma.org/?cm=var&var=hg19,8,145057678,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF55		L/F		A	neutral	2174/3497		getma.org/?cm=msa&ty=f&p=PAR10_HUMAN&rb=649&re=807&var=L693F	tolerated(0.12)	E9PSG8_HUMAN,E9PSE7_HUMAN,E9PQQ6_HUMAN,E9PPV8_HUMAN,E9PPU2_HUMAN,E9PM86_HUMAN,E9PLE8_HUMAN,E9PJI2_HUMAN,E9PIA6_HUMAN			YES	PARP10,missense_variant,p.Leu693Phe,ENST00000313028,NM_032789.3;PARP10,missense_variant,p.Leu684Phe,ENST00000524918,;PARP10,missense_variant,p.Leu705Phe,ENST00000525773,;PARP10,downstream_gene_variant,,ENST00000313059,;PARP10,downstream_gene_variant,,ENST00000525879,;PARP10,downstream_gene_variant,,ENST00000528136,;PARP10,downstream_gene_variant,,ENST00000529842,;PARP10,downstream_gene_variant,,ENST00000528625,;PARP10,downstream_gene_variant,,ENST00000528914,;PARP10,downstream_gene_variant,,ENST00000530478,;PARP10,downstream_gene_variant,,ENST00000531537,;PARP10,downstream_gene_variant,,ENST00000525486,;PARP10,downstream_gene_variant,,ENST00000529311,;PARP10,downstream_gene_variant,,ENST00000531707,;PARP10,downstream_gene_variant,,ENST00000532311,;PARP10,downstream_gene_variant,,ENST00000533665,;PARP10,downstream_gene_variant,,ENST00000534737,;PARP10,downstream_gene_variant,,ENST00000532660,;PARP10,missense_variant,p.Leu693Phe,ENST00000527262,;PARP10,non_coding_transcript_exon_variant,,ENST00000526007,;PARP10,downstream_gene_variant,,ENST00000528963,;PARP10,downstream_gene_variant,,ENST00000526985,;PARP10,downstream_gene_variant,,ENST00000528580,;							MODERATE	2079/3078	L693F	PAR10_HUMAN			Transcript		benign(0.089)	.	ENSP00000325618		CCDS34960.1			1	
AZI1	0	LGGM	GRCh37	17	79166194	79166194	+	splice_acceptor_variant	Splice_Site	DEL	T	T	-	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	5	3	.	.	ENST00000450824.2:c.2548-2del		p.X850_splice	ENST00000450824				0	1		UPI00001C1FC8	0		ENST00000269392		ENSG00000141577	29511		8			HGNC	-		AZI1		deletion							ENST00000374782	protein_coding							-		-/3673								AZI1,splice_acceptor_variant,,ENST00000269392,NM_014984.2;AZI1,splice_acceptor_variant,,ENST00000450824,;AZI1,splice_acceptor_variant,,ENST00000374782,NM_001009811.2;AZI1,splice_acceptor_variant,,ENST00000575907,;AZI1,splice_acceptor_variant,,ENST00000573053,;AZI1,splice_acceptor_variant,,ENST00000570817,;AZI1,upstream_gene_variant,,ENST00000571292,;RP11-455O6.2,upstream_gene_variant,,ENST00000571085,;							HIGH	2557/3252		AZI1_HUMAN			Transcript			.	ENSP00000269392					1	
LRBA	0	LGGM	GRCh37	4	151357986	151357986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	38	3	.	.	ENST00000357115.3:c.6844G>T	p.Ala2282Ser	p.A2282S	ENST00000357115	NM_006726.4	2282	Gca/Tca	0	1	1	UPI000013E35C	0	getma.org/pdb.php?prot=LRBA_HUMAN&from=2212&to=2489&var=A2282S	ENST00000357115		ENSG00000198589	1742		41	1.11		HGNC	p.A2271S	COSM1733391	LRBA		SNV			1			1	ENST00000510413	protein_coding	getma.org/?cm=var&var=hg19,4,151357986,C,A&fts=all		PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837		A/S		A	low	7088/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=2212&re=2489&var=A2282S	deleterious(0.02)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Ala2271Ser,ENST00000535741,;LRBA,missense_variant,p.Ala2271Ser,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Ala2282Ser,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Ala2271Ser,ENST00000507224,;LRBA,missense_variant,p.Ala924Ser,ENST00000509835,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;					1		MODERATE	6844/8592	A2282S	LRBA_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000349629		CCDS3773.1			1	
ATP6V0A4	0	LGGM	GRCh37	7	138424335	138424335	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	38	3	.	.	ENST00000310018.2:c.1522G>A	p.Ala508Thr	p.A508T	ENST00000310018	NM_020632.2	508	Gcc/Acc	0	1	1	UPI000013CDFD	0	NA	ENST00000310018		ENSG00000105929	866		41	1.08		HGNC	p.A508T		ATP6V0A4		SNV			1				ENST00000310018	protein_coding	getma.org/?cm=var&var=hg19,7,138424335,C,T&fts=all		Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26		A/T		T	low	1805/3135		getma.org/?cm=msa&ty=f&p=VPP4_HUMAN&rb=26&re=831&var=A508T	tolerated(0.41)				YES	ATP6V0A4,missense_variant,p.Ala508Thr,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,missense_variant,p.Ala508Thr,ENST00000393054,NM_130841.2;ATP6V0A4,missense_variant,p.Ala508Thr,ENST00000353492,;ATP6V0A4,intron_variant,,ENST00000471085,;							MODERATE	1522/2523	A508T	VPP4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000308122		CCDS5849.1			1	
PROM1	0	LGGM	GRCh37	4	16008181	16008181	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	6	3	.	.	ENST00000510224.1:c.1434C>T	p.Thr478=	p.T478=	ENST00000510224		478	acC/acT	0	1		UPI000004ECD6	0		ENST00000447510		ENSG00000007062	9454	0.000375	9			HGNC	p.T469T	rs761939598	PROM1		SNV			1				ENST00000543373	protein_coding			Pfam_domain:PF05478,hmmpanther:PTHR22730,hmmpanther:PTHR22730:SF3		T		A		1646/3977				D6RIF3_HUMAN,D6RBI0_HUMAN				PROM1,synonymous_variant,p.=,ENST00000505450,NM_001145848.1;PROM1,synonymous_variant,p.=,ENST00000508167,NM_001145847.1;PROM1,synonymous_variant,p.=,ENST00000510224,;PROM1,synonymous_variant,p.=,ENST00000447510,NM_006017.2;PROM1,synonymous_variant,p.=,ENST00000540805,NM_001145849.1,NM_001145851.1;PROM1,synonymous_variant,p.=,ENST00000539194,NM_001145850.1,NM_001145852.1;PROM1,synonymous_variant,p.=,ENST00000543373,;RNU6-350P,downstream_gene_variant,,ENST00000515949,;PROM1,3_prime_UTR_variant,,ENST00000511153,;							LOW	1434/2598		PROM1_HUMAN			Transcript			.	ENSP00000415481	8.27E-06	CCDS47029.1			1	
PAPL	0	LGGM	GRCh37	19	39589266	39589266	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	3	.	.	ENST00000331256.5:c.290C>T	p.Thr97Met	p.T97M	ENST00000331256	NM_001004318.2	97	aCg/aTg	0	1	1	UPI000041AA68	0	NA	ENST00000331256		ENSG00000183760			16	3.085		Uniprot_gn	p.T97M	COSM996208	PAPL		SNV						1	ENST00000331256	protein_coding	getma.org/?cm=var&var=hg19,19,39589266,C,T&fts=all		hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF9,Gene3D:2qfpA01,Superfamily_domains:SSF49363		T/M		T	medium	564/2966		getma.org/?cm=msa&ty=f&p=PAPL_HUMAN&rb=1&re=133&var=T97M	tolerated(0.09)				YES	PAPL,missense_variant,p.Thr97Met,ENST00000331256,NM_001004318.2;PAPL,missense_variant,p.Thr97Met,ENST00000594229,;PAPL,upstream_gene_variant,,ENST00000601531,;PAPL,missense_variant,p.Thr97Met,ENST00000601575,;					1		MODERATE	290/1317	T97M	PAPL_HUMAN			Transcript		possibly_damaging(0.628)	.	ENSP00000327557		CCDS33018.1			1	
ADC	0	LGGM	GRCh37	1	33585674	33585674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	31	3	.	.	ENST00000294517.6:c.1274C>A	p.Ala425Glu	p.A425E	ENST00000294517	NM_052998.2	425	gCa/gAa	0	1	1	UPI0000047152	0	NA	ENST00000294517		ENSG00000142920	29957		34	0.695		HGNC	p.A425E		ADC		SNV							ENST00000294517	protein_coding	getma.org/?cm=var&var=hg19,1,33585674,C,A&fts=all		hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF4		A/E		A	neutral	1861/2182		getma.org/?cm=msa&ty=f&p=ADC_HUMAN&rb=410&re=460&var=A425E	tolerated(0.82)	D3DPR0_HUMAN,B3KV62_HUMAN			YES	ADC,missense_variant,p.Ala425Glu,ENST00000294517,NM_052998.2;ADC,missense_variant,p.Ala445Glu,ENST00000398167,;ADC,missense_variant,p.Ala425Glu,ENST00000373443,;ADC,missense_variant,p.Ala445Glu,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,;							MODERATE	1274/1383	A425E	ADC_HUMAN			Transcript		benign(0.013)	.	ENSP00000294517		CCDS375.1			1	
PCSK7	0	LGGM	GRCh37	11	117098940	117098940	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	7	4	.	.	ENST00000320934.3:c.595C>T	p.Pro199Ser	p.P199S	ENST00000320934	NM_004716.2	199	Ccc/Tcc	0	1	1	UPI0000070E4E	0	getma.org/pdb.php?prot=PCSK7_HUMAN&from=182&to=474&var=P199S	ENST00000320934		ENSG00000160613	8748		11	0.665		HGNC	p.P199S	rs763046297	PCSK7		SNV							ENST00000525027	protein_coding	getma.org/?cm=var&var=hg19,11,117098940,G,A&fts=all		hmmpanther:PTHR10795:SF9,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743		P/S		A	neutral	1226/4649	1.57E-05	getma.org/?cm=msa&ty=f&p=PCSK7_HUMAN&rb=182&re=474&var=P199S	tolerated(0.19)	E9PMC0_HUMAN,E9PLM0_HUMAN,E9PIW7_HUMAN,B3KUH2_HUMAN			YES	PCSK7,missense_variant,p.Pro199Ser,ENST00000320934,NM_004716.2;PCSK7,missense_variant,p.Pro199Ser,ENST00000525027,;PCSK7,upstream_gene_variant,,ENST00000540028,;RNF214,upstream_gene_variant,,ENST00000531452,NM_001077239.1;RNF214,upstream_gene_variant,,ENST00000531287,NM_001278249.1;PCSK7,downstream_gene_variant,,ENST00000530269,;PCSK7,downstream_gene_variant,,ENST00000524507,;PCSK7,downstream_gene_variant,,ENST00000532301,;RNF214,upstream_gene_variant,,ENST00000534428,;PCSK7,upstream_gene_variant,,ENST00000534529,;RNF214,upstream_gene_variant,,ENST00000529869,;							MODERATE	595/2358	P199S	PCSK7_HUMAN			Transcript		benign(0.348)	.	ENSP00000325917	8.24E-06	CCDS8382.1			1	
SMCHD1	0	LGGM	GRCh37	18	2796475	2796475	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	9	4	.	.	ENST00000320876.6:c.5949A>G	p.Pro1983=	p.P1983=	ENST00000320876	NM_015295.2	1983	ccA/ccG	0	1	1	UPI00001D7AAD	0		ENST00000320876		ENSG00000101596	29090		13			HGNC	p.P1983P		SMCHD1		SNV			1				ENST00000320876	protein_coding			hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640		P		G		6287/8821							YES	SMCHD1,synonymous_variant,p.=,ENST00000320876,NM_015295.2;SMCHD1,synonymous_variant,p.=,ENST00000583800,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,3_prime_UTR_variant,,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;							LOW	5949/6018		SMHD1_HUMAN			Transcript			.	ENSP00000326603		CCDS45822.1			1	
LMLN	0	LGGM	GRCh37	3	197687209	197687209	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	15	5	.	.	ENST00000420910.2:c.117C>A	p.Ser39Arg	p.S39R	ENST00000420910	NM_001136049.2	39	agC/agA	0	1		UPI00001B0155	0	NA	ENST00000330198		ENSG00000185621	15991		20	0		HGNC	p.S39R		LMLN		SNV							ENST00000330198	protein_coding	getma.org/?cm=var&var=hg19,3,197687209,C,A&fts=all		Low_complexity_(Seg):seg		S/R		A	neutral	139/7043		getma.org/?cm=msa&ty=f&p=LMLN_HUMAN&rb=1&re=58&var=S39R	tolerated_low_confidence(0.56)					LMLN,missense_variant,p.Ser39Arg,ENST00000330198,NM_033029.3;LMLN,missense_variant,p.Ser39Arg,ENST00000420910,NM_001136049.2;LMLN,intron_variant,,ENST00000482695,;LMLN,intron_variant,,ENST00000332636,;LMLN,intron_variant,,ENST00000419117,;IQCG,upstream_gene_variant,,ENST00000265239,NM_032263.3;RPL35A,downstream_gene_variant,,ENST00000464167,NM_000996.2;IQCG,upstream_gene_variant,,ENST00000416896,;RPL35A,downstream_gene_variant,,ENST00000448864,;IQCG,upstream_gene_variant,,ENST00000480302,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;IQCG,upstream_gene_variant,,ENST00000493624,;RPL35A,downstream_gene_variant,,ENST00000474640,;RPL35A,downstream_gene_variant,,ENST00000439255,;RPL35A,downstream_gene_variant,,ENST00000429437,;							MODERATE	117/1968	S39R	LMLN_HUMAN			Transcript		benign(0.397)	.	ENSP00000328829		CCDS3332.1			1	
TDRD12	0	LGGM	GRCh37	19	33302279	33302279	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	6	5	.	.	ENST00000444215.2:c.3001G>T	p.Val1001Phe	p.V1001F	ENST00000444215		1001	Gtc/Ttc	0	1	1	UPI0000251D93	0		ENST00000444215		ENSG00000173809	25044		11			HGNC	p.V1001F		TDRD12		SNV							ENST00000444215	protein_coding			Superfamily_domains:SSF63748		V/F		T		3321/3934			deleterious(0)					TDRD12,missense_variant,p.Val1001Phe,ENST00000444215,;TDRD12,upstream_gene_variant,,ENST00000564769,;							MODERATE	3001/3534		TDR12_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000416248					1	
LSS	0	LGGM	GRCh37	21	47639474	47639474	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	11	5	.	.	ENST00000397728.3:c.563C>A	p.Ala188Asp	p.A188D	ENST00000397728	NM_002340.5	188	gCc/gAc	0	1		UPI000012A14D	0	getma.org/pdb.php?prot=ERG7_HUMAN&from=166&to=365&var=A188D	ENST00000356396		ENSG00000160285	6708		16	2.565		HGNC	p.A188D		LSS		SNV							ENST00000397728	protein_coding	getma.org/?cm=var&var=hg19,21,47639474,G,T&fts=all		hmmpanther:PTHR11764,hmmpanther:PTHR11764:SF12,TIGRFAM_domain:TIGR01787,Gene3D:1.50.10.20,Superfamily_domains:SSF48239		A/D		T	medium	640/2995		getma.org/?cm=msa&ty=f&p=ERG7_HUMAN&rb=166&re=365&var=A188D	deleterious(0.03)					LSS,missense_variant,p.Ala188Asp,ENST00000397728,NM_002340.5,NM_001145436.1;LSS,missense_variant,p.Ala108Asp,ENST00000457828,NM_001145437.1;LSS,missense_variant,p.Ala188Asp,ENST00000356396,NM_001001438.2;LSS,missense_variant,p.Ala177Asp,ENST00000522411,;LSS,missense_variant,p.Ala189Asp,ENST00000450351,;AP001469.5,upstream_gene_variant,,ENST00000418029,;LSS,non_coding_transcript_exon_variant,,ENST00000464357,;							MODERATE	563/2199	A188D	ERG7_HUMAN			Transcript		benign(0.221)	.	ENSP00000348762		CCDS13733.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	21	15	.	.	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41A	ENST00000349496	pathogenic	ENSG00000168036	2514		36	2.445		HGNC	p.T41A	rs121913412,COSM5664	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266124,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/A		G	medium	401/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	121/2346	T41A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
SORCS1	0	LGGM	GRCh37	10	108427518	108427518	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	9	6	.	.	ENST00000344440.6:c.2232G>A	p.Pro744=	p.P744=	ENST00000344440	NM_001206571.1	744	ccG/ccA	0	1		UPI00001AE866	0		ENST00000263054		ENSG00000108018	16697	0.000265	15			HGNC	p.P279P	rs751133479,COSM427060,COSM427059	SORCS1		SNV						0,1,1	ENST00000369698	protein_coding			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,SMART_domains:SM00602		P		T		2240/7272								SORCS1,synonymous_variant,p.=,ENST00000263054,NM_001206570.1,NM_052918.4;SORCS1,synonymous_variant,p.=,ENST00000344440,NM_001206571.1,NM_001206569.1,NM_001013031.2,NM_001206572.1;SORCS1,synonymous_variant,p.=,ENST00000369698,;SORCS1,non_coding_transcript_exon_variant,,ENST00000472196,;					0,1,1		LOW	2232/3507		SORC1_HUMAN			Transcript			.	ENSP00000263054	2.47E-05	CCDS7559.1			1	
EP400	0	LGGM	GRCh37	12	132530374	132530374	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	6	.	.	ENST00000389561.2:c.7129C>T	p.Arg2377Ter	p.R2377*	ENST00000389561	NM_015409.4	2377	Cga/Tga	0	1	1	UPI00004566BC	0	NA	ENST00000389561		ENSG00000183495	11958		19	0		HGNC	p.R2377X	COSM1360183	EP400		SNV						1	ENST00000541296	protein_coding	getma.org/?cm=var&var=hg19,12,132530374,C,T&fts=all		PROSITE_profiles:PS50090,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		R/*		T	NA	7238/12268		NA					YES	EP400,stop_gained,p.Arg2413Ter,ENST00000333577,;EP400,stop_gained,p.Arg2377Ter,ENST00000389561,NM_015409.4;EP400,stop_gained,p.Arg2376Ter,ENST00000389562,;EP400,stop_gained,p.Arg2340Ter,ENST00000332482,;EP400,stop_gained,p.Arg2296Ter,ENST00000330386,;					1		HIGH	7129/9372	R2413*	EP400_HUMAN			Transcript			.	ENSP00000374212		CCDS31929.2			1	
GDPD2	0	LGGM	GRCh37	X	69649549	69649549	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	2	7	.	.	ENST00000453994.2:c.1143G>A	p.Arg381=	p.R381=	ENST00000453994	NM_001171192.1	381	agG/agA	0	1		UPI000004C627	0		ENST00000374382		ENSG00000130055	25974		9			HGNC	p.R302R		GDPD2		SNV							ENST00000536730	protein_coding			Gene3D:3.20.20.190,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF1,Superfamily_domains:SSF51695		R		A		1394/2169								GDPD2,synonymous_variant,p.=,ENST00000453994,NM_001171192.1;GDPD2,synonymous_variant,p.=,ENST00000536730,NM_001171193.1;GDPD2,synonymous_variant,p.=,ENST00000374382,NM_017711.3;GDPD2,synonymous_variant,p.=,ENST00000538649,NM_001171191.1;GDPD2,non_coding_transcript_exon_variant,,ENST00000472623,;							LOW	1143/1620		GDPD2_HUMAN			Transcript			.	ENSP00000363503		CCDS14402.1			1	
RUNX1	0	LGGM	GRCh37	21	36259143	36259143	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	12	7	.	.	ENST00000300305.3:c.348C>G	p.Phe116Leu	p.F116L	ENST00000300305		116	ttC/ttG	0	1		UPI0000141569	0	getma.org/pdb.php?prot=RUNX1_HUMAN&from=48&to=182&var=F89L	ENST00000344691		ENSG00000159216	10471		19	2.82		HGNC	p.F104L		RUNX1		SNV			1				ENST00000325074	protein_coding	getma.org/?cm=var&var=hg19,21,36259143,G,C&fts=all		PROSITE_profiles:PS51062,hmmpanther:PTHR11950,Pfam_domain:PF00853,Gene3D:2.60.40.720,PIRSF_domain:PIRSF009374,Superfamily_domains:SSF49417,Prints_domain:PR00967		F/L		C	medium	1845/7274		getma.org/?cm=msa&ty=f&p=RUNX1_HUMAN&rb=48&re=182&var=F89L	deleterious(0.01)					RUNX1,missense_variant,p.Phe89Leu,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Phe116Leu,ENST00000300305,;RUNX1,missense_variant,p.Phe116Leu,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Phe104Leu,ENST00000325074,;RUNX1,missense_variant,p.Phe89Leu,ENST00000358356,NM_001122607.1;RUNX1,missense_variant,p.Phe89Leu,ENST00000399240,;RUNX1,missense_variant,p.Phe104Leu,ENST00000399237,;RUNX1,missense_variant,p.Phe92Leu,ENST00000486278,;RUNX1,missense_variant,p.Phe103Leu,ENST00000455571,;RUNX1,downstream_gene_variant,,ENST00000475045,;RUNX1,intron_variant,,ENST00000482318,;							MODERATE	267/1362	F89L	RUNX1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000340690		CCDS42922.1			1	
FBRS	0	LGGM	GRCh37	16	30680446	30680446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	9	7	.	.	ENST00000356166.6:c.2423G>T	p.Arg808Leu	p.R808L	ENST00000356166		808	cGg/cTg	0	1		UPI000059D366	0	NA	ENST00000287468		ENSG00000156860	20442		16	1.04		HGNC	p.R808L		FBRS		SNV							ENST00000356166	protein_coding	getma.org/?cm=var&var=hg19,16,30680446,G,T&fts=all		hmmpanther:PTHR14429		R/L		T	low	1126/2811		getma.org/?cm=msa&ty=f&p=FBRS_HUMAN&rb=1&re=458&var=R288L	deleterious(0.03)					FBRS,missense_variant,p.Arg808Leu,ENST00000356166,;FBRS,missense_variant,p.Arg200Leu,ENST00000568722,;FBRS,missense_variant,p.Arg288Leu,ENST00000287468,NM_001105079.1;FBRS,missense_variant,p.Arg200Leu,ENST00000395073,;FBRS,downstream_gene_variant,,ENST00000482749,;FBRS,3_prime_UTR_variant,,ENST00000543786,;FBRS,non_coding_transcript_exon_variant,,ENST00000494101,;FBRS,non_coding_transcript_exon_variant,,ENST00000570170,;							MODERATE	863/1383	R288L	FBRS_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000287468					1	
OR2B11	0	LGGM	GRCh37	1	247614765	247614765	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	25	7	.	.	ENST00000318749.6:c.520G>C	p.Gly174Arg	p.G174R	ENST00000318749	NM_001004492.1	174	Ggg/Cgg	0	1	1	UPI0000418F50	0	NA	ENST00000318749		ENSG00000177535	31249		32	2.125		HGNC	p.G174R		OR2B11		SNV							ENST00000318749	protein_coding	getma.org/?cm=var&var=hg19,1,247614765,C,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,Superfamily_domains:SSF81321		G/R		G	medium	544/1054		getma.org/?cm=msa&ty=f&p=OR2BB_HUMAN&rb=143&re=287&var=G174R	deleterious(0.01)				YES	OR2B11,missense_variant,p.Gly174Arg,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000532083,;							MODERATE	520/954	G174R	OR2BB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325682		CCDS31090.1			1	
BAZ2A	0	LGGM	GRCh37	12	56995894	56995894	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	7	.	.	ENST00000551812.1:c.3513G>C	p.Met1171Ile	p.M1171I	ENST00000551812	NM_013449.3	1171	atG/atC	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		20	-0.55		HGNC	p.M1171I		BAZ2A		SNV							ENST00000551812	protein_coding	getma.org/?cm=var&var=hg19,12,56995894,C,G&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		M/I		G	neutral	3707/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=1111&re=1310&var=M1171I	tolerated(0.25)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Met1139Ile,ENST00000179765,;BAZ2A,missense_variant,p.Met1141Ile,ENST00000379441,;BAZ2A,missense_variant,p.Met1171Ile,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Met1169Ile,ENST00000549884,;BAZ2A,missense_variant,p.Met107Ile,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000548578,;BAZ2A,downstream_gene_variant,,ENST00000551759,;							MODERATE	3513/5718	M1171I	BAZ2A_HUMAN			Transcript		benign(0)	.	ENSP00000446880		CCDS44924.1			1	
RICTOR	0	LGGM	GRCh37	5	39074211	39074211	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	6	8	.	.	ENST00000357387.3:c.97+2T>G		p.X33_splice	ENST00000357387	NM_152756.3			0	1	1	UPI00003529F3	0		ENST00000357387		ENSG00000164327	28611		14			HGNC	-		RICTOR		SNV							ENST00000357387	protein_coding							C		-/9543							YES	RICTOR,splice_donor_variant,,ENST00000357387,NM_152756.3;RICTOR,splice_donor_variant,,ENST00000296782,NM_001285439.1;RICTOR,intron_variant,,ENST00000514735,;RICTOR,splice_donor_variant,,ENST00000511516,NM_001285440.1;RICTOR,splice_donor_variant,,ENST00000513566,;RICTOR,intron_variant,,ENST00000510711,;							HIGH	97/5127		RICTR_HUMAN			Transcript			.	ENSP00000349959		CCDS34148.1			1	
SIRPB2	0	LGGM	GRCh37	20	1460656	1460656	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	22	8	.	.	ENST00000359801.3:c.140C>T	p.Pro47Leu	p.P47L	ENST00000359801	NM_001122962.1	47	cCc/cTc	0	1	1	UPI00001D8311	0	getma.org/pdb.php?prot=SIRB2_HUMAN&from=38&to=149&var=P47L	ENST00000359801		ENSG00000196209	16247		30	1.01		HGNC	p.P47L		SIRPB2		SNV							ENST00000481731	protein_coding	getma.org/?cm=var&var=hg19,20,1460656,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF9,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/L		A	low	177/2642		getma.org/?cm=msa&ty=f&p=SIRB2_HUMAN&rb=38&re=149&var=P47L	tolerated(0.16)				YES	SIRPB2,missense_variant,p.Pro47Leu,ENST00000359801,NM_001122962.1;SIRPB2,missense_variant,p.Pro47Leu,ENST00000444444,NM_001134836.1;SIRPB2,5_prime_UTR_variant,,ENST00000537284,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000608747,;SIRPB2,missense_variant,p.Pro47Leu,ENST00000481731,;SIRPB2,missense_variant,p.Pro47Leu,ENST00000486775,;SIRPB2,missense_variant,p.Pro47Leu,ENST00000608073,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000381630,;SIRPB2,non_coding_transcript_exon_variant,,ENST00000609796,;							MODERATE	140/1029	P47L	SIRB2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000352849		CCDS42849.1			1	
RAI1	0	LGGM	GRCh37	17	17700632	17700632	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	21	8	.	.	ENST00000353383.1:c.4370G>C	p.Gly1457Ala	p.G1457A	ENST00000353383	NM_030665.3	1457	gGa/gCa	0	1	1	UPI0000200AAF	0	NA	ENST00000353383		ENSG00000108557	9834		29	0.805		HGNC	p.G1457A		RAI1		SNV			1				ENST00000353383	protein_coding	getma.org/?cm=var&var=hg19,17,17700632,G,C&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6		G/A		C	low	4839/7662		getma.org/?cm=msa&ty=f&p=RAI1_HUMAN&rb=1390&re=1589&var=G1457A	deleterious(0.02)	J3QLL5_HUMAN,A8MXE8_HUMAN			YES	RAI1,missense_variant,p.Gly1457Ala,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Gly1457Ala,ENST00000261641,;RAI1,downstream_gene_variant,,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,;							MODERATE	4370/5721	G1457A	RAI1_HUMAN			Transcript		benign(0.374)	.	ENSP00000323074		CCDS11188.1			1	
CACNA1A	0	LGGM	GRCh37	19	13616998	13616998	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	4	8	.	.	ENST00000360228.5:c.41G>C	p.Gly14Ala	p.G14A	ENST00000360228	NM_001127222.1	14	gGa/gCa	0	1	1	UPI0000141565	0	NA	ENST00000360228		ENSG00000141837	1388		12	2.135		HGNC	p.G14A		CACNA1A		SNV			1				ENST00000325084	protein_coding	getma.org/?cm=var&var=hg19,19,13616998,C,G&fts=all		Low_complexity_(Seg):seg		G/A		G	medium	41/8392		getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=1&re=135&var=G14A		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,missense_variant,p.Gly14Ala,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Gly14Ala,ENST00000573710,NM_001127221.1;CACNA1A,intron_variant,,ENST00000574974,;							MODERATE	41/7521	G14A	CAC1A_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000353362		CCDS45998.1			1	
MGAT5	0	LGGM	GRCh37	2	135093830	135093830	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	49	8	.	.	ENST00000409645.1:c.616C>T	p.Pro206Ser	p.P206S	ENST00000409645		206	Ccc/Tcc	0	1		UPI0000049D8F	0	NA	ENST00000281923		ENSG00000152127	7049		57	1.445		HGNC	p.P206S		MGAT5		SNV							ENST00000281923	protein_coding	getma.org/?cm=var&var=hg19,2,135093830,C,T&fts=all		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF3		P/S		T	low	761/2421		getma.org/?cm=msa&ty=f&p=MGT5A_HUMAN&rb=1&re=739&var=P206S	tolerated(0.13)	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN				MGAT5,missense_variant,p.Pro206Ser,ENST00000409645,;MGAT5,missense_variant,p.Pro206Ser,ENST00000281923,NM_002410.4;							MODERATE	616/2226	P206S	MGT5A_HUMAN			Transcript		benign(0.076)	.	ENSP00000281923		CCDS2171.1			1	
LPP	0	LGGM	GRCh37	3	188583994	188583994	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	19	8	.	.	ENST00000312675.4:c.1417C>A	p.Leu473Met	p.L473M	ENST00000312675	NM_005578.3	473	Ctg/Atg	0	1	1	UPI000002E034	0	getma.org/pdb.php?prot=LPP_HUMAN&from=416&to=473&var=L473M	ENST00000312675		ENSG00000145012	6679		27	3.135		HGNC	p.L473M		LPP		SNV							ENST00000312675	protein_coding	getma.org/?cm=var&var=hg19,3,188583994,C,A&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24207,hmmpanther:PTHR24207:SF0,Superfamily_domains:SSF57716		L/M		A	medium	1663/18278		getma.org/?cm=msa&ty=f&p=LPP_HUMAN&rb=416&re=473&var=L473M	deleterious(0)	C9JT42_HUMAN,C9JIY7_HUMAN,C9JE51_HUMAN,C9J5C8_HUMAN,C9J4E3_HUMAN,C9J3U9_HUMAN,C9J2R5_HUMAN,C9J1K7_HUMAN,B7Z871_HUMAN			YES	LPP,missense_variant,p.Leu473Met,ENST00000312675,NM_005578.3,NM_001167672.1;LPP,missense_variant,p.Leu473Met,ENST00000543006,NM_001167671.1,NM_001167672.1;LPP,non_coding_transcript_exon_variant,,ENST00000459897,;							MODERATE	1417/1839	L473M	LPP_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000318089		CCDS3291.1			1	
LTBP4	0	LGGM	GRCh37	19	41115552	41115552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	16	9	.	.	ENST00000308370.7:c.1744G>T	p.Gly582Cys	p.G582C	ENST00000308370	NM_001042544.1	582	Ggc/Tgc	0	1	1	UPI000179A7A0	0	NA	ENST00000308370		ENSG00000090006	6717		25	3.295		HGNC	p.G545C		LTBP4		SNV			1				ENST00000204005	protein_coding	getma.org/?cm=var&var=hg19,19,41115552,G,T&fts=all		Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		G/C		T	medium	1744/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=545&re=586&var=G582C	deleterious(0)				YES	LTBP4,missense_variant,p.Gly582Cys,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Gly545Cys,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Gly515Cys,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Gly35Cys,ENST00000545697,;LTBP4,upstream_gene_variant,,ENST00000243562,;LTBP4,upstream_gene_variant,,ENST00000601032,;LTBP4,upstream_gene_variant,,ENST00000599724,;LTBP4,upstream_gene_variant,,ENST00000597071,;LTBP4,upstream_gene_variant,,ENST00000593463,;RN7SL758P,upstream_gene_variant,,ENST00000580450,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000599016,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,upstream_gene_variant,,ENST00000601560,;LTBP4,downstream_gene_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598055,;LTBP4,upstream_gene_variant,,ENST00000595183,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000595118,;LTBP4,upstream_gene_variant,,ENST00000318809,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,downstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000594266,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,upstream_gene_variant,,ENST00000597816,;LTBP4,upstream_gene_variant,,ENST00000602251,;LTBP4,upstream_gene_variant,,ENST00000595767,;LTBP4,upstream_gene_variant,,ENST00000600499,;LTBP4,upstream_gene_variant,,ENST00000601570,;LTBP4,upstream_gene_variant,,ENST00000594457,;LTBP4,upstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000594448,;LTBP4,upstream_gene_variant,,ENST00000593614,;LTBP4,upstream_gene_variant,,ENST00000596351,;LTBP4,upstream_gene_variant,,ENST00000601464,;LTBP4,downstream_gene_variant,,ENST00000593738,;							MODERATE	1744/4872	G582C	LTBP4_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000311905					1	
ADAMTS18	0	LGGM	GRCh37	16	77329001	77329001	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	19	9	.	.	ENST00000282849.5:c.2825C>T	p.Thr942Ile	p.T942I	ENST00000282849	NM_199355.2	942	aCa/aTa	0	1	1	UPI0000233610	0	NA	ENST00000282849		ENSG00000140873	17110		28	1.3		HGNC	p.T942I		ADAMTS18		SNV			1				ENST00000282849	protein_coding	getma.org/?cm=var&var=hg19,16,77329001,G,A&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167,SMART_domains:SM00209,Superfamily_domains:SSF82895		T/I		A	low	3244/5913		getma.org/?cm=msa&ty=f&p=ATS18_HUMAN&rb=937&re=991&var=T942I	tolerated(0.16)				YES	ADAMTS18,missense_variant,p.Thr942Ile,ENST00000282849,NM_199355.2;RP11-538I12.3,downstream_gene_variant,,ENST00000561672,;ADAMTS18,downstream_gene_variant,,ENST00000568393,;							MODERATE	2825/3666	T942I	ATS18_HUMAN			Transcript		benign(0.005)	.	ENSP00000282849		CCDS10926.1			1	
SLC22A3	0	LGGM	GRCh37	6	160868759	160868759	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	6	9	.	.	ENST00000275300.2:c.1519G>T	p.Ala507Ser	p.A507S	ENST00000275300	NM_021977.3	507	Gca/Tca	0	1	1	UPI0000130BB7	0	NA	ENST00000275300		ENSG00000146477	10967		15	0.49		HGNC	p.A508S		SLC22A3		SNV							ENST00000392145	protein_coding	getma.org/?cm=var&var=hg19,6,160868759,G,T&fts=all		Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,hmmpanther:PTHR24064:SF52,hmmpanther:PTHR24064,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix		A/S		T	neutral	1671/3348		getma.org/?cm=msa&ty=f&p=S22A3_HUMAN&rb=486&re=556&var=A507S	tolerated(0.14)	Q9NQC0_HUMAN			YES	SLC22A3,missense_variant,p.Ala508Ser,ENST00000392145,;SLC22A3,missense_variant,p.Ala507Ser,ENST00000275300,NM_021977.3;							MODERATE	1519/1671	A507S	S22A3_HUMAN			Transcript		benign(0.259)	.	ENSP00000275300		CCDS5277.1			1	
RUNX2	0	LGGM	GRCh37	6	45514716	45514716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	75	9	.	.	ENST00000371438.1:c.1240G>A	p.Ala414Thr	p.A414T	ENST00000371438	NM_001024630.3	414	Gcc/Acc	0	1	1	UPI000013532F	0	getma.org/pdb.php?prot=RUNX2_HUMAN&from=234&to=426&var=A414T	ENST00000371438		ENSG00000124813	10472		84	0.635		HGNC	p.A482T	rs763860044	RUNX2	6.06E-05	SNV			1				ENST00000352853	protein_coding	getma.org/?cm=var&var=hg19,6,45514716,G,A&fts=all		Gene3D:1b8xA03,PIRSF_domain:PIRSF009374,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7		A/T		A	neutral	1598/5698		getma.org/?cm=msa&ty=f&p=RUNX2_HUMAN&rb=234&re=426&var=A414T	tolerated(0.13)	U3RG86_HUMAN			YES	RUNX2,missense_variant,p.Ala414Thr,ENST00000371438,NM_001024630.3;RUNX2,missense_variant,p.Ala378Thr,ENST00000371432,NM_001278478.1;RUNX2,missense_variant,p.Ala400Thr,ENST00000359524,;RUNX2,missense_variant,p.Ala482Thr,ENST00000352853,;RUNX2,missense_variant,p.Ala414Thr,ENST00000465038,;RUNX2,missense_variant,p.Ala460Thr,ENST00000541979,NM_001015051.3;RUNX2,missense_variant,p.Ala392Thr,ENST00000371436,;RUNX2,intron_variant,,ENST00000576263,;RUNX2,3_prime_UTR_variant,,ENST00000483377,;RUNX2,intron_variant,,ENST00000478660,;	0.000116						MODERATE	1240/1566	A414T	RUNX2_HUMAN	0.000152		Transcript		probably_damaging(0.995)	.	ENSP00000360493	2.47E-05	CCDS43467.2			1	
AC093802.1	0	LGGM	GRCh37	2	240702098	240702098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	5	9	.	.	ENST00000407524.1:c.148C>T	p.Arg50Cys	p.R50C	ENST00000407524		50	Cgc/Tgc	0	1	1	UPI0000DD7AA9	0		ENST00000407524		ENSG00000220256			14			Clone_based_vega_gene	p.R50C		AC093802.1		SNV							ENST00000407524	protein_coding					R/C		T		174/3238				B5MD18_HUMAN			YES	AC093802.1,missense_variant,p.Arg50Cys,ENST00000407524,;							MODERATE	148/177					Transcript		benign(0)	.	ENSP00000385884					1	
RECK	0	LGGM	GRCh37	9	36083560	36083560	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	22	10	.	.	ENST00000377966.3:c.637+1G>A		p.X213_splice	ENST00000377966	NM_021111.2			0	1	1	UPI0000133587	0		ENST00000377966		ENSG00000122707	11345		32			HGNC	-		RECK		SNV							ENST00000377966	protein_coding							A		-/4888							YES	RECK,splice_donor_variant,,ENST00000377966,NM_021111.2;RECK,splice_donor_variant,,ENST00000479053,;RECK,splice_donor_variant,,ENST00000475774,;							HIGH	637/2916		RECK_HUMAN			Transcript			.	ENSP00000367202		CCDS6597.1			1	
SLC36A2	0	LGGM	GRCh37	5	150704982	150704982	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	22	10	.	.	ENST00000335244.4:c.875C>T	p.Ala292Val	p.A292V	ENST00000335244	NM_181776.2	292	gCc/gTc	0	1	1	UPI000020D008	0	NA	ENST00000335244		ENSG00000186335	18762		32	1.39		HGNC	p.A16V	COSM3827450	SLC36A2		SNV			1			1	ENST00000450886	protein_coding	getma.org/?cm=var&var=hg19,5,150704982,G,A&fts=all		hmmpanther:PTHR22950:SF185,hmmpanther:PTHR22950,Pfam_domain:PF01490		A/V		A	low	1005/3421		getma.org/?cm=msa&ty=f&p=S36A2_HUMAN&rb=52&re=463&var=A292V	deleterious(0.01)	E5RGH8_HUMAN			YES	SLC36A2,missense_variant,p.Ala292Val,ENST00000335244,NM_181776.2;SLC36A2,missense_variant,p.Ala16Val,ENST00000450886,;SLC36A2,missense_variant,p.Ala292Val,ENST00000521967,;SLC36A2,missense_variant,p.Ala45Val,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;					1		MODERATE	875/1452	A292V	S36A2_HUMAN			Transcript		benign(0.068)	.	ENSP00000334223		CCDS4315.1			1	
MEFV	0	LGGM	GRCh37	16	3304627	3304627	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	7	10	.	.	ENST00000219596.1:c.441C>A	p.Pro147=	p.P147=	ENST00000219596	NM_000243.2	147	ccC/ccA	0	1	1	UPI000004C0CA	0		ENST00000219596		ENSG00000103313	6998		17			HGNC	p.P147P		MEFV		SNV			1				ENST00000538326	protein_coding					P		T		481/3499							YES	MEFV,synonymous_variant,p.=,ENST00000219596,NM_000243.2;MEFV,intron_variant,,ENST00000339854,;MEFV,intron_variant,,ENST00000541159,NM_001198536.1;MEFV,intron_variant,,ENST00000536379,;MEFV,synonymous_variant,p.=,ENST00000542898,;MEFV,synonymous_variant,p.=,ENST00000537682,;MEFV,synonymous_variant,p.=,ENST00000538326,;MEFV,synonymous_variant,p.=,ENST00000570511,;MEFV,intron_variant,,ENST00000536980,;MEFV,intron_variant,,ENST00000539145,;MEFV,intron_variant,,ENST00000576315,;MEFV,intron_variant,,ENST00000574583,;MEFV,intron_variant,,ENST00000572244,;							LOW	441/2346		MEFV_HUMAN			Transcript			.	ENSP00000219596		CCDS10498.1			1	
LRRC16B	0	LGGM	GRCh37	14	24522975	24522975	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	10	10	.	.	ENST00000342740.5:c.98T>G	p.Leu33Trp	p.L33W	ENST00000342740	NM_138360.3	33	tTg/tGg	0	1	1	UPI0000DBEF11	0	NA	ENST00000342740		ENSG00000186648	20272		20	2.05		HGNC	p.L33W		LRRC16B		SNV							ENST00000342740	protein_coding	getma.org/?cm=var&var=hg19,14,24522975,T,G&fts=all		hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF32		L/W		G	medium	252/4597		getma.org/?cm=msa&ty=f&p=LR16B_HUMAN&rb=1&re=200&var=L33W	deleterious(0)				YES	LRRC16B,missense_variant,p.Leu33Trp,ENST00000342740,NM_138360.3;LRRC16B,5_prime_UTR_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,;							MODERATE	98/4119	L33W	LR16B_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000340467		CCDS32054.1			1	
EIF2AK4	0	LGGM	GRCh37	15	40231745	40231745	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	39	11	.	.	ENST00000263791.5:c.184C>G	p.Gln62Glu	p.Q62E	ENST00000263791	NM_001013703.2	62	Caa/Gaa	0	1	1	UPI0000160791	0	getma.org/pdb.php?prot=E2AK4_HUMAN&from=18&to=134&var=Q62E	ENST00000263791		ENSG00000128829	19687		50	1.32		HGNC	p.Q62E		EIF2AK4		SNV			1				ENST00000382727	protein_coding	getma.org/?cm=var&var=hg19,15,40231745,C,G&fts=all		Gene3D:3.10.110.10,Pfam_domain:PF05773,PIRSF_domain:PIRSF000660,PROSITE_profiles:PS50908,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,SMART_domains:SM00591,Superfamily_domains:SSF54495		Q/E		G	low	227/5499		getma.org/?cm=msa&ty=f&p=E2AK4_HUMAN&rb=18&re=134&var=Q62E	deleterious(0.01)				YES	EIF2AK4,missense_variant,p.Gln62Glu,ENST00000263791,NM_001013703.2;EIF2AK4,missense_variant,p.Gln62Glu,ENST00000382727,;EIF2AK4,missense_variant,p.Gln62Glu,ENST00000559624,;EIF2AK4,missense_variant,p.Gln62Glu,ENST00000560648,;							MODERATE	184/4950	Q62E	E2AK4_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000263791		CCDS42016.1			1	
MAP1A	0	LGGM	GRCh37	15	43819239	43819239	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	11	11	.	.	ENST00000300231.5:c.5568C>A	p.Pro1856=	p.P1856=	ENST00000300231		1856	ccC/ccA	0	1	1	UPI000013E63C	0		ENST00000300231		ENSG00000166963	6835		22			HGNC	p.P1856P		MAP1A		SNV							ENST00000399453	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		P		A		6018/10258							YES	MAP1A,synonymous_variant,p.=,ENST00000382031,;MAP1A,synonymous_variant,p.=,ENST00000399453,NM_002373.5;MAP1A,synonymous_variant,p.=,ENST00000300231,;							LOW	5568/8412		MAP1A_HUMAN			Transcript			.	ENSP00000300231		CCDS42031.1			1	
HMCN1	0	LGGM	GRCh37	1	186114616	186114616	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	15	11	.	.	ENST00000271588.4:c.14348C>A	p.Thr4783Lys	p.T4783K	ENST00000271588	NM_031935.2	4783	aCa/aAa	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4761&to=4811&var=T4783K	ENST00000271588		ENSG00000143341	19194		26	0.92		HGNC	p.T4783K		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186114616,C,A&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00209,Superfamily_domains:SSF82895		T/K		A	low	14577/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4761&re=4811&var=T4783K					YES	HMCN1,missense_variant,p.Thr4783Lys,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Thr4783Lys,ENST00000367492,;							MODERATE	14348/16908	T4783K	HMCN1_HUMAN			Transcript		benign(0.404)	.	ENSP00000271588		CCDS30956.1			1	
PEF1	0	LGGM	GRCh37	1	32098049	32098049	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	20	11	.	.	ENST00000373703.4:c.625+47T>C		*209*	ENST00000373703	NM_012392.3			0	1	1	UPI00000389E4	0		ENST00000373703		ENSG00000162517	30009		31			HGNC	p.K367R		PEF1		SNV							ENST00000373705	protein_coding							G		-/1629							YES	HCRTR1,missense_variant,p.Lys367Arg,ENST00000373705,;PEF1,intron_variant,,ENST00000373703,NM_012392.3;PEF1,downstream_gene_variant,,ENST00000440872,;PEF1,intron_variant,,ENST00000489164,;PEF1,intron_variant,,ENST00000478502,;PEF1,intron_variant,,ENST00000461006,;HCRTR1,downstream_gene_variant,,ENST00000468521,;PEF1,downstream_gene_variant,,ENST00000492061,;PEF1,downstream_gene_variant,,ENST00000496805,;PEF1,downstream_gene_variant,,ENST00000472443,;PEF1,downstream_gene_variant,,ENST00000471219,;							MODIFIER	-/855		PEF1_HUMAN			Transcript			.	ENSP00000362807		CCDS345.1			1	
COL6A6	0	LGGM	GRCh37	3	130368207	130368207	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	42	12	.	.	ENST00000358511.6:c.5534C>T	p.Ala1845Val	p.A1845V	ENST00000358511	NM_001102608.1	1845	gCa/gTa	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=1757&to=1920&var=A1845V	ENST00000358511		ENSG00000206384	27023		54	0.83		HGNC	p.A1845V		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130368207,C,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		A/V		T	low	5565/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1757&re=1920&var=A1845V	deleterious(0.05)				YES	COL6A6,missense_variant,p.Ala1845Val,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Ala1845Val,ENST00000453409,;COL6A6,intron_variant,,ENST00000506143,;							MODERATE	5534/6792	A1845V	CO6A6_HUMAN			Transcript		benign(0.043)	.	ENSP00000351310		CCDS46911.1			1	
LRRC4B	0	LGGM	GRCh37	19	51022518	51022518	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	15	12	.	.	ENST00000599957.1:c.452C>T	p.Thr151Met	p.T151M	ENST00000599957		151	aCg/aTg	0	1		UPI00000497E7	0	getma.org/pdb.php?prot=LRC4B_HUMAN&from=99&to=226&var=T151M	ENST00000389201		ENSG00000131409	25042		27	1.255		HGNC	p.T151M		LRRC4B		SNV							ENST00000599957	protein_coding	getma.org/?cm=var&var=hg19,19,51022518,G,A&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13306,Gene3D:3.80.10.10,hmmpanther:PTHR24369:SF7,hmmpanther:PTHR24369,PROSITE_profiles:PS51450		T/M		A	low	589/2958		getma.org/?cm=msa&ty=f&p=LRC4B_HUMAN&rb=99&re=226&var=T151M	deleterious(0)	M0R2G0_HUMAN,A0PJJ4_HUMAN				LRRC4B,missense_variant,p.Thr151Met,ENST00000599957,;LRRC4B,missense_variant,p.Thr151Met,ENST00000389201,NM_001080457.1;LRRC4B,missense_variant,p.Thr151Met,ENST00000600381,;ASPDH,upstream_gene_variant,,ENST00000376916,NM_001024656.2;ASPDH,upstream_gene_variant,,ENST00000601207,;ASPDH,upstream_gene_variant,,ENST00000598657,;ASPDH,upstream_gene_variant,,ENST00000597030,;ASPDH,upstream_gene_variant,,ENST00000601287,;ASPDH,upstream_gene_variant,,ENST00000593569,;							MODERATE	452/2142	T151M	LRC4B_HUMAN			Transcript		possibly_damaging(0.622)	.	ENSP00000373853		CCDS42595.1			1	
HMGB4	0	LGGM	GRCh37	1	34330282	34330282	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	17	12	.	.	ENST00000522796.1:c.490T>C	p.Cys164Arg	p.C164R	ENST00000522796		164	Tgt/Cgt	0	1		UPI000011E2F1	0	NA	ENST00000519684		ENSG00000176256	24954		29	0.805		HGNC	p.C164R	rs546766243	HMGB4		SNV				9.90E-05			ENST00000522796	protein_coding	getma.org/?cm=var&var=hg19,1,34330282,T,C&fts=all	C:0.0008	hmmpanther:PTHR13711:SF152,hmmpanther:PTHR13711,Gene3D:1.10.30.10,Superfamily_domains:SSF47095,Prints_domain:PR00886		C/R		C	low	2233/2343		getma.org/?cm=msa&ty=f&p=HMGB4_HUMAN&rb=132&re=186&var=C164R	tolerated(0.54)		C:0	C:0		HMGB4,missense_variant,p.Cys164Arg,ENST00000522796,;HMGB4,missense_variant,p.Cys164Arg,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,;		C:0.0002					MODERATE	490/561	C164R	HMGB4_HUMAN		C:0	Transcript		benign(0.002)	.	ENSP00000429214	8.24E-06	CCDS30668.1		C:0	1	
CACNG3	0	LGGM	GRCh37	16	24268169	24268169	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	30	13	.	.	ENST00000005284.3:c.94T>A	p.Tyr32Asn	p.Y32N	ENST00000005284	NM_006539.3	32	Tac/Aac	0	1	1	UPI000000D979	0	NA	ENST00000005284		ENSG00000006116	1407		43	2.985		HGNC	p.Y32N		CACNG3		SNV							ENST00000005284	protein_coding	getma.org/?cm=var&var=hg19,16,24268169,T,A&fts=all		Pfam_domain:PF00822,Prints_domain:PR01792,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF5		Y/N		A	medium	1296/3088		getma.org/?cm=msa&ty=f&p=CCG3_HUMAN&rb=6&re=196&var=Y32N	deleterious(0)				YES	CACNG3,missense_variant,p.Tyr32Asn,ENST00000005284,NM_006539.3;AC004125.3,downstream_gene_variant,,ENST00000567127,;							MODERATE	94/948	Y32N	CCG3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000005284		CCDS10620.1			1	
HUWE1	0	LGGM	GRCh37	X	53610637	53610637	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	6	13	.	.	ENST00000342160.3:c.5401A>C	p.Thr1801Pro	p.T1801P	ENST00000342160		1801	Acc/Ccc	0	1		UPI00004A0DAC	0	NA	ENST00000262854		ENSG00000086758	30892		19	1.04		HGNC	p.T1801P		HUWE1		SNV			1				ENST00000342160	protein_coding	getma.org/?cm=var&var=hg19,X,53610637,T,G&fts=all		hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254		T/P		G	low	5803/14692		getma.org/?cm=msa&ty=f&p=HUWE1_HUMAN&rb=1680&re=1879&var=T1801P		Q5H963_HUMAN				HUWE1,missense_variant,p.Thr1801Pro,ENST00000342160,;HUWE1,missense_variant,p.Thr1801Pro,ENST00000262854,NM_031407.5;HUWE1,missense_variant,p.Thr835Pro,ENST00000427052,;HUWE1,downstream_gene_variant,,ENST00000218328,;							MODERATE	5401/13125	T1801P	HUWE1_HUMAN			Transcript		benign(0.016)	.	ENSP00000262854		CCDS35301.1			1	
DLGAP1	0	LGGM	GRCh37	18	3534497	3534497	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	24	13	.	.	ENST00000315677.3:c.2174C>T	p.Pro725Leu	p.P725L	ENST00000315677	NM_004746.3	725	cCc/cTc	0	1	1	UPI0000129490	0	NA	ENST00000315677		ENSG00000170579	2905		37	1.355		HGNC	p.P433L		DLGAP1		SNV							ENST00000539435	protein_coding	getma.org/?cm=var&var=hg19,18,3534497,G,A&fts=all		hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353,Pfam_domain:PF03359		P/L		A	low	2770/6683		getma.org/?cm=msa&ty=f&p=DLGP1_HUMAN&rb=637&re=977&var=P725L	tolerated(0.22)				YES	DLGAP1,missense_variant,p.Pro725Leu,ENST00000315677,NM_004746.3;DLGAP1,missense_variant,p.Pro441Leu,ENST00000400150,NM_001242763.1;DLGAP1,missense_variant,p.Pro423Leu,ENST00000400147,NM_001003809.2;DLGAP1,missense_variant,p.Pro431Leu,ENST00000400155,NM_001242764.1;DLGAP1,missense_variant,p.Pro415Leu,ENST00000400149,;DLGAP1,missense_variant,p.Pro725Leu,ENST00000581527,NM_001242761.1;DLGAP1,missense_variant,p.Pro725Leu,ENST00000584874,;DLGAP1,missense_variant,p.Pro725Leu,ENST00000515196,;DLGAP1,missense_variant,p.Pro433Leu,ENST00000539435,NM_001242766.1;DLGAP1,missense_variant,p.Pro409Leu,ENST00000534970,NM_001242762.1;DLGAP1,missense_variant,p.Pro431Leu,ENST00000581699,;DLGAP1,missense_variant,p.Pro423Leu,ENST00000400145,NM_001242765.1;							MODERATE	2174/2934	P725L	DLGP1_HUMAN			Transcript		benign(0.005)	.	ENSP00000316377		CCDS11836.1			1	
DNAH2	0	LGGM	GRCh37	17	7662245	7662245	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	23	13	.	.	ENST00000572933.1:c.2251A>G	p.Ile751Val	p.I751V	ENST00000572933		751	Att/Gtt	0	1		UPI00005B2F0D	0	NA	ENST00000389173		ENSG00000183914	2948		36	1.52		HGNC	p.I751V		DNAH2		SNV							ENST00000389173	protein_coding	getma.org/?cm=var&var=hg19,17,7662245,A,G&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183		I/V		G	low	2265/13505		getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=727&re=926&var=I751V						DNAH2,missense_variant,p.Ile751Val,ENST00000572933,;DNAH2,missense_variant,p.Ile751Val,ENST00000389173,NM_020877.2;RPL29P2,downstream_gene_variant,,ENST00000498671,;DNAH2,upstream_gene_variant,,ENST00000574518,;RPL29P2,downstream_gene_variant,,ENST00000488409,;							MODERATE	2251/13284	I751V	DYH2_HUMAN			Transcript		benign(0.14)	.	ENSP00000373825		CCDS32551.1			1	
CDS2	0	LGGM	GRCh37	20	5163789	5163789	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	20	13	.	.	ENST00000460006.1:c.671G>A	p.Trp224Ter	p.W224*	ENST00000460006	NM_003818.3	224	tGg/tAg	0	1	1	UPI0000001293	0	NA	ENST00000460006		ENSG00000101290	1801		33	0		HGNC	p.W104X		CDS2		SNV							ENST00000379062	protein_coding	getma.org/?cm=var&var=hg19,20,5163789,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13773:SF4,hmmpanther:PTHR13773,Pfam_domain:PF01148,PIRSF_domain:PIRSF018269		W/*		A	NA	978/9298		NA					YES	CDS2,stop_gained,p.Trp224Ter,ENST00000460006,NM_003818.3;CDS2,stop_gained,p.Trp104Ter,ENST00000379062,;CDS2,stop_gained,p.Trp169Ter,ENST00000450570,;CDS2,stop_gained,p.Trp45Ter,ENST00000535100,;CDS2,splice_region_variant,,ENST00000379070,;CDS2,splice_region_variant,,ENST00000468817,;CDS2,non_coding_transcript_exon_variant,,ENST00000467923,;							HIGH	671/1338	W224*	CDS2_HUMAN			Transcript			.	ENSP00000419879		CCDS13088.1			1	
AOC2	0	LGGM	GRCh37	17	40996970	40996970	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	29	14	.	.	ENST00000253799.3:c.327G>A	p.Leu109=	p.L109=	ENST00000253799	NM_009590.2	109	ctG/ctA	0	1	1	UPI000013CDF4	0		ENST00000253799		ENSG00000131480	549		43			HGNC	p.L109L		AOC2		SNV							ENST00000253799	protein_coding			Superfamily_domains:SSF54416,Gene3D:3.10.450.40,Pfam_domain:PF02727,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4		L		A		354/2657							YES	AOC2,synonymous_variant,p.=,ENST00000253799,NM_009590.2;AOC2,synonymous_variant,p.=,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,;							LOW	327/2271		AOC2_HUMAN			Transcript			.	ENSP00000253799		CCDS11443.1			1	
DCLK3	0	LGGM	GRCh37	3	36780102	36780102	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	63	15	.	.	ENST00000416516.2:c.49G>T	p.Glu17Ter	p.E17*	ENST00000416516	NM_033403.1	17	Gaa/Taa	0	1	1	UPI0000E2657D	0	NA	ENST00000416516		ENSG00000163673	19005		78	0		HGNC	p.E17X		DCLK3		SNV							ENST00000416516	protein_coding	getma.org/?cm=var&var=hg19,3,36780102,C,A&fts=all				E/*		A	NA	540/5344		NA		B3KVM3_HUMAN			YES	DCLK3,stop_gained,p.Glu17Ter,ENST00000416516,NM_033403.1;							HIGH	49/1947	E17*	DCLK3_HUMAN			Transcript			.	ENSP00000394484		CCDS43064.1			1	
HNF4G	0	LGGM	GRCh37	8	76456060	76456060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	32	15	.	.	ENST00000396423.2:c.103G>C	p.Glu35Gln	p.E35Q	ENST00000396423	NM_004133.4	35	Gag/Cag	0	1		UPI000013E3F9	0	NA	ENST00000354370		ENSG00000164749	5026		47	1.975		HGNC	p.E35Q		HNF4G		SNV							ENST00000396423	protein_coding	getma.org/?cm=var&var=hg19,8,76456060,G,C&fts=all						C	medium	262/1728		getma.org/?cm=msa&ty=f&p=F1D8Q4_HUMAN&rb=1&re=46&var=E35Q						HNF4G,missense_variant,p.Glu35Gln,ENST00000396423,NM_004133.4;HNF4G,5_prime_UTR_variant,,ENST00000354370,;HNF4G,intron_variant,,ENST00000396419,;							MODIFIER	-/1227	E35Q	HNF4G_HUMAN			Transcript			.	ENSP00000346339					1	
NCDN	0	LGGM	GRCh37	1	36024783	36024783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	21	15	.	.	ENST00000373243.2:c.109G>A	p.Glu37Lys	p.E37K	ENST00000373243	NM_014284.2	37	Gag/Aag	0	1		UPI000007147C	0	NA	ENST00000356090		ENSG00000020129	17597		36	0.315		HGNC	p.E20K		NCDN		SNV							ENST00000437806	protein_coding	getma.org/?cm=var&var=hg19,1,36024783,G,A&fts=all		hmmpanther:PTHR13109,Pfam_domain:PF05536,Superfamily_domains:SSF48371		E/K		A	neutral	236/3433		getma.org/?cm=msa&ty=f&p=NCDN_HUMAN&rb=30&re=637&var=E37K	tolerated(0.24)	C9J5H8_HUMAN,B4DJ92_HUMAN				NCDN,missense_variant,p.Glu37Lys,ENST00000373243,NM_014284.2;NCDN,missense_variant,p.Glu20Lys,ENST00000373253,NM_001014841.1;NCDN,missense_variant,p.Glu37Lys,ENST00000356090,NM_001014839.1;NCDN,missense_variant,p.Glu20Lys,ENST00000437806,;KIAA0319L,upstream_gene_variant,,ENST00000325722,NM_024874.4;KIAA0319L,upstream_gene_variant,,ENST00000426982,;KIAA0319L,upstream_gene_variant,,ENST00000440579,;NCDN,upstream_gene_variant,,ENST00000423723,;KIAA0319L,upstream_gene_variant,,ENST00000469892,;KIAA0319L,upstream_gene_variant,,ENST00000494948,;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,;							MODERATE	109/2190	E37K	NCDN_HUMAN			Transcript		benign(0.022)	.	ENSP00000348394		CCDS392.1			1	
H3F3A	0	LGGM	GRCh37	1	226253424	226253424	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	39	15	.	.	ENST00000366813.1:c.196C>G	p.Leu66Val	p.L66V	ENST00000366813		66	Ctt/Gtt	0	1	1	UPI00000007B0	0		ENST00000366813		ENSG00000163041	4764		54			HGNC	p.L66V		H3F3A		SNV							ENST00000366816	protein_coding			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113		L/V		G		571/1308			deleterious_low_confidence(0)	K7EK07_HUMAN,B4E380_HUMAN,B2R4P9_HUMAN			YES	H3F3A,missense_variant,p.Leu66Val,ENST00000366814,;H3F3A,missense_variant,p.Leu66Val,ENST00000366813,;H3F3A,missense_variant,p.Leu66Val,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Leu66Val,ENST00000366816,;RP11-396C23.4,upstream_gene_variant,,ENST00000609423,;							MODERATE	196/411		H33_HUMAN			Transcript		benign(0.07)	.	ENSP00000355778		CCDS1550.1			1	
KL	0	LGGM	GRCh37	13	33635564	33635564	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	22	16	.	.	ENST00000380099.3:c.2348A>G	p.Asn783Ser	p.N783S	ENST00000380099	NM_004795.3	783	aAt/aGt	0	1	1	UPI000013CEBA	0	getma.org/pdb.php?prot=KLOT_HUMAN&from=515&to=953&var=N783S	ENST00000380099		ENSG00000133116	6344		38	0.575		HGNC	p.N783S		KL		SNV			1				ENST00000380099	protein_coding	getma.org/?cm=var&var=hg19,13,33635564,A,G&fts=all		hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Gene3D:3.20.20.80,Pfam_domain:PF00232,Superfamily_domains:SSF51445		N/S		G	neutral	2356/5006		getma.org/?cm=msa&ty=f&p=KLOT_HUMAN&rb=515&re=953&var=N783S	tolerated(0.89)	G3XKV3_HUMAN			YES	KL,missense_variant,p.Asn783Ser,ENST00000380099,NM_004795.3;KL,3_prime_UTR_variant,,ENST00000426690,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;							MODERATE	2348/3039	N783S	KLOT_HUMAN			Transcript		benign(0.023)	.	ENSP00000369442		CCDS9347.1			1	
CATSPERB	0	LGGM	GRCh37	14	92191490	92191490	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	28	16	.	.	ENST00000256343.3:c.102A>T	p.Ala34=	p.A34=	ENST00000256343	NM_024764.2	34	gcA/gcT	0	1	1	UPI0000418DA1	0		ENST00000256343		ENSG00000133962	20500		44			HGNC	p.A34A		CATSPERB		SNV							ENST00000256343	protein_coding			hmmpanther:PTHR14705		A		A		259/3623				G3V584_HUMAN,G3V352_HUMAN			YES	CATSPERB,synonymous_variant,p.=,ENST00000256343,NM_024764.2;CATSPERB,synonymous_variant,p.=,ENST00000553329,;CATSPERB,synonymous_variant,p.=,ENST00000556661,;CATSPERB,synonymous_variant,p.=,ENST00000554560,;CATSPERB,synonymous_variant,p.=,ENST00000553676,;							LOW	102/3351		CTSRB_HUMAN			Transcript			.	ENSP00000256343		CCDS32142.1			1	
VOPP1	0	LGGM	GRCh37	7	55540681	55540681	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	14	16	.	.	ENST00000285279.5:c.386C>T	p.Pro129Leu	p.P129L	ENST00000285279	NM_030796.3	129	cCt/cTt	0	1	1	UPI000006F3B3	0	NA	ENST00000285279		ENSG00000154978	34518		30	0.895		HGNC	p.P62L	rs538213197	VOPP1		SNV				0.000109			ENST00000414113	protein_coding	getma.org/?cm=var&var=hg19,7,55540681,G,A&fts=all	A:0.0008	hmmpanther:PTHR14971		P/L		A	low	587/2962		getma.org/?cm=msa&ty=f&p=VOPP1_HUMAN&rb=115&re=170&var=P129L	deleterious_low_confidence(0.02)	C9JTY8_HUMAN,C9JQ18_HUMAN,C9JIM1_HUMAN,C9JF99_HUMAN,C9J548_HUMAN	A:0	A:0	YES	VOPP1,missense_variant,p.Pro129Leu,ENST00000285279,NM_030796.3;VOPP1,missense_variant,p.Pro120Leu,ENST00000433959,NM_001284284.1;VOPP1,missense_variant,p.Pro62Leu,ENST00000428648,;VOPP1,missense_variant,p.Pro126Leu,ENST00000545390,NM_001284283.1;VOPP1,missense_variant,p.Pro62Leu,ENST00000428097,;VOPP1,missense_variant,p.Pro112Leu,ENST00000418904,NM_001284282.1;VOPP1,missense_variant,p.Pro62Leu,ENST00000453256,;VOPP1,missense_variant,p.Pro127Leu,ENST00000427700,;VOPP1,missense_variant,p.Pro66Leu,ENST00000454227,;VOPP1,missense_variant,p.Pro62Leu,ENST00000455023,;VOPP1,missense_variant,p.Pro62Leu,ENST00000414113,;VOPP1,downstream_gene_variant,,ENST00000417399,;VOPP1,intron_variant,,ENST00000462326,;		A:0.0002					MODERATE	386/519	P129L	VOPP1_HUMAN		A:0	Transcript		probably_damaging(0.999)	.	ENSP00000285279	8.28E-06	CCDS47588.1		A:0	1	
VNN2	0	LGGM	GRCh37	6	133078570	133078570	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	16	.	.	ENST00000326499.6:c.329G>A	p.Cys110Tyr	p.C110Y	ENST00000326499	NM_004665.2	110	tGt/tAt	0	1	1	UPI000014194E	0	getma.org/pdb.php?prot=VNN2_HUMAN&from=43&to=225&var=C110Y	ENST00000326499		ENSG00000112303	12706		29	3.72		HGNC	p.C57Y		VNN2		SNV							ENST00000531279	protein_coding	getma.org/?cm=var&var=hg19,6,133078570,C,T&fts=all		PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF5,Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF011861,Superfamily_domains:SSF56317		C/Y		T	high	454/2118		getma.org/?cm=msa&ty=f&p=VNN2_HUMAN&rb=43&re=225&var=C110Y	deleterious(0.01)	E9PRD9_HUMAN,E9PL76_HUMAN,E9PK31_HUMAN			YES	VNN2,missense_variant,p.Cys110Tyr,ENST00000326499,NM_004665.2;VNN2,missense_variant,p.Cys57Tyr,ENST00000525270,NM_078488.1;VNN2,missense_variant,p.Cys110Tyr,ENST00000525289,NM_001242350.1;VNN2,missense_variant,p.Cys110Tyr,ENST00000524919,;VNN2,missense_variant,p.Cys57Tyr,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.Cys110Tyr,ENST00000392389,;VNN2,missense_variant,p.Cys110Tyr,ENST00000422400,;VNN2,missense_variant,p.Cys110Tyr,ENST00000418593,;VNN2,missense_variant,p.Cys110Tyr,ENST00000525674,;VNN2,missense_variant,p.Cys110Tyr,ENST00000533835,;VNN2,missense_variant,p.Cys110Tyr,ENST00000532053,;VNN2,missense_variant,p.Cys110Tyr,ENST00000528801,;VNN2,missense_variant,p.Cys57Tyr,ENST00000531279,;							MODERATE	329/1563	C110Y	VNN2_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000322276		CCDS5161.1			1	
CD96	0	LGGM	GRCh37	3	111325603	111325603	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	39	16	.	.	ENST00000283285.5:c.1192A>G	p.Thr398Ala	p.T398A	ENST00000283285	NM_198196.2	398	Acc/Gcc	0	1	1	UPI000013DD36	0	NA	ENST00000283285		ENSG00000153283	16892		55	0.255		HGNC	p.T382A		CD96		SNV			1				ENST00000438817	protein_coding	getma.org/?cm=var&var=hg19,3,111325603,A,G&fts=all		hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0		T/A		G	neutral	1323/4324		getma.org/?cm=msa&ty=f&p=TACT_HUMAN&rb=360&re=522&var=T398A	tolerated(0.24)	U3KPT0_HUMAN			YES	CD96,missense_variant,p.Thr382Ala,ENST00000352690,NM_005816.4;CD96,missense_variant,p.Thr398Ala,ENST00000283285,NM_198196.2;CD96,missense_variant,p.Thr382Ala,ENST00000438817,;CD96,missense_variant,p.Thr382Ala,ENST00000494798,;							MODERATE	1192/1758	T398A	TACT_HUMAN			Transcript		benign(0.002)	.	ENSP00000283285		CCDS2959.1			1	
NUP210	0	LGGM	GRCh37	3	13383355	13383355	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	19	17	.	.	ENST00000254508.5:c.3121A>G	p.Thr1041Ala	p.T1041A	ENST00000254508	NM_024923.3	1041	Acc/Gcc	0	1	1	UPI00001600AF	0	NA	ENST00000254508		ENSG00000132182	30052		36	1.995		HGNC	p.T1041A		NUP210		SNV							ENST00000254508	protein_coding	getma.org/?cm=var&var=hg19,3,13383355,T,C&fts=all		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2		T/A		C	medium	3204/7191		getma.org/?cm=msa&ty=f&p=PO210_HUMAN&rb=1001&re=1076&var=T1041A	deleterious(0)				YES	NUP210,missense_variant,p.Thr1041Ala,ENST00000254508,NM_024923.3;NUP210,upstream_gene_variant,,ENST00000485755,;							MODERATE	3121/5664	T1041A	PO210_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000254508		CCDS33704.1			1	
ERC2	0	LGGM	GRCh37	3	56330055	56330055	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	103	18	.	.	ENST00000288221.6:c.1066C>T	p.Leu356Phe	p.L356F	ENST00000288221	NM_015576.1	356	Ctt/Ttt	0	1	1	UPI00001C1572	0	NA	ENST00000288221		ENSG00000187672	31922		121	2.24		HGNC	p.L356F		ERC2		SNV							ENST00000288221	protein_coding	getma.org/?cm=var&var=hg19,3,56330055,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3		L/F		A	medium	1322/6138		getma.org/?cm=msa&ty=f&p=ERC2_HUMAN&rb=150&re=911&var=L356F	tolerated(0.1)				YES	ERC2,missense_variant,p.Leu356Phe,ENST00000288221,NM_015576.1;ERC2,missense_variant,p.Leu356Phe,ENST00000460849,;							MODERATE	1066/2874	L356F	ERC2_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000288221		CCDS46851.1			1	
EVI2B	0	LGGM	GRCh37	17	29631309	29631309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	38	19	.	.	ENST00000330927.4:c.1319T>A	p.Leu440Gln	p.L440Q	ENST00000330927	NM_006495.3	440	cTg/cAg	0	1	1	UPI00001AFD5F	0	NA	ENST00000330927		ENSG00000185862	3500		57	1.1		HGNC	p.L440Q	COSM3969955	EVI2B		SNV						1	ENST00000330927	protein_coding	getma.org/?cm=var&var=hg19,17,29631309,A,T&fts=all		hmmpanther:PTHR15384		L/Q		T	low	1474/1999		getma.org/?cm=msa&ty=f&p=EVI2B_HUMAN&rb=286&re=446&var=L440Q	deleterious(0)				YES	EVI2B,missense_variant,p.Leu440Gln,ENST00000330927,NM_006495.3;EVI2B,missense_variant,p.Leu440Gln,ENST00000577894,;EVI2B,missense_variant,p.Leu455Gln,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,;					1		MODERATE	1319/1347	L440Q	EVI2B_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000333779		CCDS11266.1			1	
OR4C15	0	LGGM	GRCh37	11	55322327	55322327	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	32	19	.	.	ENST00000314644.2:c.545C>A	p.Pro182His	p.P182H	ENST00000314644	NM_001001920.1	182	cCc/cAc	0	1	1	UPI00003B288E	0	getma.org/pdb.php?prot=OR4CF_HUMAN&from=1&to=137&var=P128H	ENST00000314644		ENSG00000181939	15171		51	4.415		HGNC	p.P182H	rs781357145	OR4C15		SNV							ENST00000314644	protein_coding	getma.org/?cm=var&var=hg19,11,55322327,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321		P/H		A	high	545/1113	1.50E-05	getma.org/?cm=msa&ty=f&p=OR4CF_HUMAN&rb=1&re=137&var=P128H	deleterious_low_confidence(0)				YES	OR4C15,missense_variant,p.Pro182His,ENST00000314644,NM_001001920.1;							MODERATE	545/1113	P128H	OR4CF_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000324958	8.24E-06	CCDS31501.1			1	
GRB7	0	LGGM	GRCh37	17	37900357	37900357	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	80	19	.	.	ENST00000445327.2:c.767A>G	p.Gln256Arg	p.Q256R	ENST00000445327	NM_001242442.1	256	cAg/cGg	0	1		UPI000013D841	0	getma.org/pdb.php?prot=GRB7_HUMAN&from=230&to=337&var=Q233R	ENST00000309156		ENSG00000141738	4567		99	2.245		HGNC	p.Q256R		GRB7		SNV							ENST00000445327	protein_coding	getma.org/?cm=var&var=hg19,17,37900357,A,G&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF24,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		Q/R		G	medium	955/2243		getma.org/?cm=msa&ty=f&p=GRB7_HUMAN&rb=230&re=337&var=Q233R	deleterious(0.01)					GRB7,missense_variant,p.Gln233Arg,ENST00000309156,NM_005310.3;GRB7,missense_variant,p.Gln256Arg,ENST00000445327,NM_001242442.1;GRB7,missense_variant,p.Gln233Arg,ENST00000309185,;GRB7,missense_variant,p.Gln233Arg,ENST00000394211,NM_001030002.2;GRB7,missense_variant,p.Gln233Arg,ENST00000394209,NM_001242443.1;GRB7,missense_variant,p.Gln233Arg,ENST00000394204,;GRB7,downstream_gene_variant,,ENST00000577695,;GRB7,downstream_gene_variant,,ENST00000578702,;GRB7,non_coding_transcript_exon_variant,,ENST00000584819,;GRB7,non_coding_transcript_exon_variant,,ENST00000473071,;GRB7,downstream_gene_variant,,ENST00000485182,;GRB7,downstream_gene_variant,,ENST00000584053,;GRB7,downstream_gene_variant,,ENST00000583813,;GRB7,downstream_gene_variant,,ENST00000461756,;							MODERATE	698/1599	Q233R	GRB7_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000310771		CCDS11345.1			1	
SENP8	0	LGGM	GRCh37	15	72432555	72432555	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	24	20	.	.	ENST00000544411.1:c.591G>C	p.Lys197Asn	p.K197N	ENST00000544411	NM_001172110.1	197	aaG/aaC	0	1		UPI0000135852	0	getma.org/pdb.php?prot=SENP8_HUMAN&from=25&to=212&var=K197N	ENST00000340912		ENSG00000166192	22992		44	0.585		HGNC	p.K197N		SENP8		SNV							ENST00000542035	protein_coding	getma.org/?cm=var&var=hg19,15,72432555,G,C&fts=all		hmmpanther:PTHR22875,Pfam_domain:PF02902,Superfamily_domains:SSF54001		K/N		C	neutral	807/1556		getma.org/?cm=msa&ty=f&p=SENP8_HUMAN&rb=25&re=212&var=K197N	tolerated(0.18)	H3BTK5_HUMAN,H3BTJ8_HUMAN,H3BS71_HUMAN				SENP8,missense_variant,p.Lys197Asn,ENST00000544411,NM_001172110.1,NM_001172109.1;SENP8,missense_variant,p.Lys197Asn,ENST00000544171,NM_001172111.1;SENP8,missense_variant,p.Lys197Asn,ENST00000542035,NM_001166340.1;SENP8,missense_variant,p.Lys197Asn,ENST00000340912,NM_145204.3;SENP8,downstream_gene_variant,,ENST00000564082,;SENP8,downstream_gene_variant,,ENST00000567794,;SENP8,downstream_gene_variant,,ENST00000564863,;RP11-2I17.4,downstream_gene_variant,,ENST00000568984,;RP11-2I17.1,downstream_gene_variant,,ENST00000478757,;							MODERATE	591/639	K197N	SENP8_HUMAN			Transcript		benign(0.05)	.	ENSP00000340505		CCDS10240.1			1	
SAMD3	0	LGGM	GRCh37	6	130536364	130536364	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	20	.	.	ENST00000368134.2:c.55G>T	p.Gly19Ter	p.G19*	ENST00000368134	NM_001258275.1	19	Gga/Tga	0	1	1	UPI000006DCE7	0	NA	ENST00000368134		ENSG00000164483	21574		33	0		HGNC	p.G19X		SAMD3		SNV							ENST00000439090	protein_coding	getma.org/?cm=var&var=hg19,6,130536364,C,A&fts=all		PROSITE_profiles:PS50105,hmmpanther:PTHR12844:SF18,hmmpanther:PTHR12844,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769		G/*		A	NA	664/2377		NA		E9PS85_HUMAN			YES	SAMD3,stop_gained,p.Gly19Ter,ENST00000532763,;SAMD3,stop_gained,p.Gly19Ter,ENST00000368134,NM_001258275.1;SAMD3,stop_gained,p.Gly19Ter,ENST00000439090,NM_001017373.3;SAMD3,stop_gained,p.Gly19Ter,ENST00000437477,;SAMD3,stop_gained,p.Gly43Ter,ENST00000457563,NM_001277185.1;SAMD3,stop_gained,p.Gly19Ter,ENST00000324172,;SAMD3,stop_gained,p.Gly19Ter,ENST00000532309,;SAMD3,stop_gained,p.Gly19Ter,ENST00000531544,;SAMD3,stop_gained,p.Gly19Ter,ENST00000529723,;SAMD3,non_coding_transcript_exon_variant,,ENST00000533296,;SAMD3,stop_gained,p.Gly19Ter,ENST00000524930,;							HIGH	55/1563	G19*	SAMD3_HUMAN			Transcript			.	ENSP00000357116		CCDS34539.1			1	
GPR98	0	LGGM	GRCh37	5	90070029	90070029	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	110	20	.	.	ENST00000405460.2:c.12312G>A	p.Leu4104=	p.L4104=	ENST00000405460	NM_032119.3	4104	ttG/ttA	0	1	1	UPI00002127A7	0		ENST00000405460		ENSG00000164199	17416		130			HGNC	p.L4104L	rs754753377,COSM1071166	GPR98		SNV			1			0,1	ENST00000405460	protein_coding			Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072		L		A		12408/19338	1.51E-05						YES	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;					0,1		LOW	12312/18921		GPR98_HUMAN			Transcript			.	ENSP00000384582	8.27E-06	CCDS47246.1			1	
OR4C15	0	LGGM	GRCh37	11	55322328	55322328	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	31	20	.	.	ENST00000314644.2:c.546C>G	p.Pro182=	p.P182=	ENST00000314644	NM_001001920.1	182	ccC/ccG	0	1	1	UPI00003B288E	0		ENST00000314644		ENSG00000181939	15171		51			HGNC	p.P182P		OR4C15		SNV							ENST00000314644	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321		P		G		546/1113							YES	OR4C15,synonymous_variant,p.=,ENST00000314644,NM_001001920.1;							LOW	546/1113		OR4CF_HUMAN			Transcript			.	ENSP00000324958		CCDS31501.1			1	
GPRC5D	0	LGGM	GRCh37	12	13102847	13102847	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	27	20	.	.	ENST00000228887.1:c.472T>C	p.Phe158Leu	p.F158L	ENST00000228887	NM_018654.1	158	Ttt/Ctt	0	1	1	UPI0000050482	0	NA	ENST00000228887		ENSG00000111291	13310		47	1.23		HGNC	p.F158L		GPRC5D		SNV							ENST00000396333	protein_coding	getma.org/?cm=var&var=hg19,12,13102847,A,G&fts=all		Pfam_domain:PF00003,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF10		F/L		G	low	472/1038		getma.org/?cm=msa&ty=f&p=GPC5D_HUMAN&rb=32&re=265&var=F158L	tolerated(0.19)	F5GWX9_HUMAN			YES	GPRC5D,missense_variant,p.Phe158Leu,ENST00000228887,NM_018654.1;GPRC5D,missense_variant,p.Phe158Leu,ENST00000396333,;GPRC5D,downstream_gene_variant,,ENST00000541128,;RP11-392P7.6,intron_variant,,ENST00000543515,;RP11-392P7.6,intron_variant,,ENST00000545914,;RP11-392P7.6,intron_variant,,ENST00000536029,;RP11-392P7.6,intron_variant,,ENST00000540198,;RP11-392P7.6,intron_variant,,ENST00000394742,;RP11-392P7.6,intron_variant,,ENST00000542078,;RP11-392P7.6,downstream_gene_variant,,ENST00000538231,;							MODERATE	472/1038	F158L	GPC5D_HUMAN			Transcript		benign(0.032)	.	ENSP00000228887		CCDS8658.1			1	
SAMD3	0	LGGM	GRCh37	6	130536363	130536363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	20	.	.	ENST00000368134.2:c.56G>T	p.Gly19Val	p.G19V	ENST00000368134	NM_001258275.1	19	gGa/gTa	0	1	1	UPI000006DCE7	0	NA	ENST00000368134		ENSG00000164483	21574		33	0.805		HGNC	p.G19V		SAMD3		SNV							ENST00000439090	protein_coding	getma.org/?cm=var&var=hg19,6,130536363,C,A&fts=all		PROSITE_profiles:PS50105,hmmpanther:PTHR12844:SF18,hmmpanther:PTHR12844,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769		G/V		A	low	665/2377		getma.org/?cm=msa&ty=f&p=SAMD3_HUMAN&rb=2&re=64&var=G19V	deleterious_low_confidence(0)	E9PS85_HUMAN			YES	SAMD3,missense_variant,p.Gly19Val,ENST00000532763,;SAMD3,missense_variant,p.Gly19Val,ENST00000368134,NM_001258275.1;SAMD3,missense_variant,p.Gly19Val,ENST00000439090,NM_001017373.3;SAMD3,missense_variant,p.Gly19Val,ENST00000437477,;SAMD3,missense_variant,p.Gly43Val,ENST00000457563,NM_001277185.1;SAMD3,missense_variant,p.Gly19Val,ENST00000324172,;SAMD3,missense_variant,p.Gly19Val,ENST00000532309,;SAMD3,missense_variant,p.Gly19Val,ENST00000531544,;SAMD3,missense_variant,p.Gly19Val,ENST00000529723,;SAMD3,non_coding_transcript_exon_variant,,ENST00000533296,;SAMD3,missense_variant,p.Gly19Val,ENST00000524930,;							MODERATE	56/1563	G19V	SAMD3_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000357116		CCDS34539.1			1	
VPS41	0	LGGM	GRCh37	7	38796584	38796584	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	74	21	.	.	ENST00000310301.4:c.1551-2A>T		p.X517_splice	ENST00000310301	NM_014396.3			0	1	1	UPI000000DAB7	0		ENST00000310301		ENSG00000006715	12713		95			HGNC	-		VPS41		SNV							ENST00000310301	protein_coding							A		-/5903				Q75MS2_HUMAN,C9J2U9_HUMAN			YES	VPS41,splice_acceptor_variant,,ENST00000310301,NM_014396.3;VPS41,splice_acceptor_variant,,ENST00000395969,NM_080631.3;VPS41,downstream_gene_variant,,ENST00000462429,;							HIGH	1551/2565		VPS41_HUMAN			Transcript			.	ENSP00000309457		CCDS5457.1			1	
NUP98	0	LGGM	GRCh37	11	3793054	3793054	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	24	21	.	.	ENST00000324932.7:c.708C>T	p.Ser236=	p.S236=	ENST00000324932	NM_139132.3	236	agC/agT	0	1		UPI00015DFF4D	0		ENST00000359171		ENSG00000110713	8068		45			HGNC	p.S236S	rs769709928	NUP98		SNV							ENST00000355260	protein_coding			hmmpanther:PTHR23198:SF0,hmmpanther:PTHR23198		S		A		1129/6770	1.50E-05			Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,synonymous_variant,p.=,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,synonymous_variant,p.=,ENST00000359171,;NUP98,synonymous_variant,p.=,ENST00000355260,;NUP98,synonymous_variant,p.=,ENST00000397004,NM_139131.3;NUP98,synonymous_variant,p.=,ENST00000397007,NM_005387.5;NUP98,downstream_gene_variant,,ENST00000532475,;NUP98,upstream_gene_variant,,ENST00000397013,;	0.000462						LOW	708/4917					Transcript			common_variant	ENSP00000352091	4.12E-05				1	
FPR1	0	LGGM	GRCh37	19	52250109	52250109	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	17	21	.	.	ENST00000595042.1:c.139G>C	p.Val47Leu	p.V47L	ENST00000595042	NM_001193306.1	47	Gtg/Ctg	0	1		UPI0000050484	0	getma.org/pdb.php?prot=FPR1_HUMAN&from=43&to=301&var=V47L	ENST00000304748		ENSG00000171051	3826		38	3.305		HGNC	p.V47L		FPR1		SNV							ENST00000304748	protein_coding	getma.org/?cm=var&var=hg19,19,52250109,C,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/L		G	medium	246/1930		getma.org/?cm=msa&ty=f&p=FPR1_HUMAN&rb=43&re=301&var=V47L	deleterious(0.03)	M0R315_HUMAN,M0QZT0_HUMAN				FPR1,missense_variant,p.Val47Leu,ENST00000595042,NM_001193306.1;FPR1,missense_variant,p.Val47Leu,ENST00000304748,NM_002029.3;FPR1,missense_variant,p.Val47Leu,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;							MODERATE	139/1053	V47L	FPR1_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000302707		CCDS12839.1			1	
CNTNAP2	0	LGGM	GRCh37	7	146536875	146536875	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	54	21	.	.	ENST00000361727.3:c.281A>T	p.Gln94Leu	p.Q94L	ENST00000361727	NM_014141.5	94	cAg/cTg	0	1	1	UPI00001285FA	0	getma.org/pdb.php?prot=CNTP2_HUMAN&from=47&to=178&var=Q94L	ENST00000361727		ENSG00000174469	13830		75	0.58		HGNC	p.Q94L		CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,146536875,A,T&fts=all		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,PROSITE_patterns:PS01285,Gene3D:2.60.120.260,Pfam_domain:PF00754,SMART_domains:SM00231,Superfamily_domains:SSF49785		Q/L		T	neutral	797/9894		getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=47&re=178&var=Q94L	deleterious(0)	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			YES	CNTNAP2,missense_variant,p.Gln94Leu,ENST00000361727,NM_014141.5;							MODERATE	281/3996	Q94L	CNTP2_HUMAN			Transcript		benign(0.439)	.	ENSP00000354778		CCDS5889.1			1	
CCT3	0	LGGM	GRCh37	1	156290768	156290768	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	102	21	.	.	ENST00000295688.3:c.471C>G	p.Asn157Lys	p.N157K	ENST00000295688	NM_005998.4	157	aaC/aaG	0	1	1	UPI000040EEFE	0	getma.org/pdb.php?prot=TCPG_HUMAN&from=33&to=527&var=N157K	ENST00000295688		ENSG00000163468	1616		123	-1.015		HGNC	p.N181K		CCT3		SNV							ENST00000413555	protein_coding	getma.org/?cm=var&var=hg19,1,156290768,G,C&fts=all		Gene3D:3.30.260.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF63,Superfamily_domains:SSF54849,TIGRFAM_domain:TIGR02344		N/K		C	neutral	752/2150		getma.org/?cm=msa&ty=f&p=TCPG_HUMAN&rb=33&re=527&var=N157K	tolerated(1)	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN			YES	CCT3,missense_variant,p.Asn157Lys,ENST00000295688,NM_005998.4;CCT3,missense_variant,p.Asn112Lys,ENST00000368261,;CCT3,missense_variant,p.Asn112Lys,ENST00000472765,;CCT3,missense_variant,p.Asn119Lys,ENST00000368259,NM_001008800.2;CCT3,missense_variant,p.Asn181Lys,ENST00000413555,;CCT3,missense_variant,p.Asn156Lys,ENST00000496684,;CCT3,missense_variant,p.Asn143Lys,ENST00000446905,;CCT3,missense_variant,p.Asn136Lys,ENST00000478640,;CCT3,missense_variant,p.Asn78Lys,ENST00000533194,;CCT3,downstream_gene_variant,,ENST00000415548,;CCT3,non_coding_transcript_exon_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;AL589685.1,upstream_gene_variant,,ENST00000416812,;							MODERATE	471/1638	N157K	TCPG_HUMAN			Transcript		benign(0.002)	.	ENSP00000295688		CCDS1140.2			1	
MYCBP2	0	LGGM	GRCh37	13	77837924	77837924	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	48	22	.	.	ENST00000544440.2:c.1318G>T	p.Asp440Tyr	p.D440Y	ENST00000544440		440	Gat/Tat	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		70	1.75		HGNC	p.D478Y		MYCBP2		SNV							ENST00000407578	protein_coding	getma.org/?cm=var&var=hg19,13,77837924,C,A&fts=all		hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		D/Y		A	low	1411/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=1&re=546&var=D440Y						MYCBP2,missense_variant,p.Asp478Tyr,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Asp440Tyr,ENST00000357337,;MYCBP2,missense_variant,p.Asp440Tyr,ENST00000544440,;MYCBP2,splice_region_variant,,ENST00000360084,;							MODERATE	1318/13923	D440Y	MYCB2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000349892					1	
TTN	0	LGGM	GRCh37	2	179605581	179605581	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	146	22	.	.	ENST00000589042.1:c.12379A>C	p.Ser4127Arg	p.S4127R	ENST00000589042	NM_001267550.1	4127	Agc/Cgc	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		168	0.55		HGNC	p.S3889R		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179605581,T,G&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		S/R		G	neutral	11653/104301		getma.org/?cm=msa&ty=f&p=D3DPF9_HUMAN&rb=3666&re=3865&var=S3764R		C9JQJ2_HUMAN				TTN,missense_variant,p.Ser4127Arg,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ser3810Arg,ENST00000591111,;TTN,missense_variant,p.Ser3956Arg,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ser3889Arg,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ser3764Arg,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,;							MODERATE	11428/103053	S3764R	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PCMTD1	0	LGGM	GRCh37	8	52733208	52733208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	86	22	.	.	ENST00000360540.5:c.777A>G	p.Ile259Met	p.I259M	ENST00000360540	NM_052937.3	259	atA/atG	0	1	1	UPI0000047CC0	0	NA	ENST00000360540		ENSG00000168300	30483		108	1.185		HGNC	p.I183M		PCMTD1		SNV							ENST00000544451	protein_coding	getma.org/?cm=var&var=hg19,8,52733208,T,C&fts=all		hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335		I/M		C	low	1184/4252		getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=225&re=357&var=I259M	tolerated(0.05)				YES	PCMTD1,missense_variant,p.Ile259Met,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Ile183Met,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,missense_variant,p.Ile259Met,ENST00000522514,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;							MODERATE	777/1074	I259M	PCMD1_HUMAN			Transcript		benign(0.04)	.	ENSP00000353739		CCDS6148.1			1	
NCAPD2	0	LGGM	GRCh37	12	6620382	6620382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	26	22	.	.	ENST00000315579.5:c.551T>C	p.Leu184Pro	p.L184P	ENST00000315579	NM_014865.3	184	cTg/cCg	0	1	1	UPI000013C8CA	0	NA	ENST00000315579		ENSG00000010292	24305		48	2.57		HGNC	p.L139P		NCAPD2		SNV							ENST00000545962	protein_coding	getma.org/?cm=var&var=hg19,12,6620382,T,C&fts=all		Pfam_domain:PF12922,PIRSF_domain:PIRSF017127,hmmpanther:PTHR14222,hmmpanther:PTHR14222:SF2		L/P		C	medium	1350/5548		getma.org/?cm=msa&ty=f&p=CND1_HUMAN&rb=73&re=241&var=L184P	deleterious(0)	F5GZK7_HUMAN			YES	NCAPD2,missense_variant,p.Leu184Pro,ENST00000315579,NM_014865.3;NCAPD2,missense_variant,p.Leu139Pro,ENST00000545962,;NCAPD2,intron_variant,,ENST00000382457,;NCAPD2,downstream_gene_variant,,ENST00000539714,;SCARNA10,downstream_gene_variant,,ENST00000459255,;SCARNA10,downstream_gene_variant,,ENST00000541782,;NCAPD2,downstream_gene_variant,,ENST00000541399,;NCAPD2,3_prime_UTR_variant,,ENST00000539084,;NCAPD2,upstream_gene_variant,,ENST00000545732,;							MODERATE	551/4206	L184P	CND1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325017		CCDS8548.1			1	
GRM5	0	LGGM	GRCh37	11	88781021	88781021	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	23	23	.	.	ENST00000418177.2:c.20T>C	p.Leu7Pro	p.L7P	ENST00000418177		7	cTg/cCg	0	1		UPI000012F081	0	NA	ENST00000305447		ENSG00000168959	4597		46	1.5		HGNC	p.L7P		GRM5		SNV							ENST00000418177	protein_coding	getma.org/?cm=var&var=hg19,11,88781021,A,G&fts=all		Prints_domain:PR01055,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/P		G	low	170/4571		getma.org/?cm=msa&ty=f&p=GRM5_HUMAN&rb=1&re=66&var=L7P	deleterious(0)					GRM5,missense_variant,p.Leu7Pro,ENST00000418177,;GRM5,missense_variant,p.Leu7Pro,ENST00000455756,NM_000842.3;GRM5,missense_variant,p.Leu7Pro,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Leu7Pro,ENST00000305432,;GRM5,missense_variant,p.Leu7Pro,ENST00000393297,;GRM5,missense_variant,p.Leu7Pro,ENST00000393294,;GRM5,upstream_gene_variant,,ENST00000449371,;							MODERATE	20/3639	L7P	GRM5_HUMAN			Transcript		unknown(0)	.	ENSP00000306138		CCDS44694.1			1	
ZKSCAN8	0	LGGM	GRCh37	6	28119708	28119708	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	47	23	.	.	ENST00000330236.6:c.645G>A	p.Gly215=	p.G215=	ENST00000330236	NM_001278122.1	215	ggG/ggA	0	1	1	UPI000013D073	0		ENST00000330236		ENSG00000198315	12983		70			HGNC	p.G215G		ZKSCAN8		SNV							ENST00000330236	protein_coding			Superfamily_domains:0044637,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF64		G		A		829/7376							YES	ZKSCAN8,synonymous_variant,p.=,ENST00000330236,NM_001278122.1,NM_006298.3,NM_001278121.1;ZKSCAN8,synonymous_variant,p.=,ENST00000457389,NM_001278119.1;ZKSCAN8,3_prime_UTR_variant,,ENST00000606198,;ZKSCAN8,3_prime_UTR_variant,,ENST00000536028,;							LOW	645/1737		ZKSC8_HUMAN			Transcript			.	ENSP00000332750		CCDS4645.1			1	
SEPT8	0	LGGM	GRCh37	5	132096564	132096564	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	44	23	.	.	ENST00000378719.2:c.1216G>A	p.Glu406Lys	p.E406K	ENST00000378719	NM_001098811.1	406	Gag/Aag	0	1	1	UPI00001C1E27	0	NA	ENST00000378719		ENSG00000164402	16511		67	0.975		HGNC	p.E406K		SEPT8		SNV							ENST00000296873	protein_coding	getma.org/?cm=var&var=hg19,5,132096564,C,T&fts=all		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF006698,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF54		E/K		T	low	1454/2889		getma.org/?cm=msa&ty=f&p=SEPT8_HUMAN&rb=403&re=481&var=E406K	deleterious(0.03)	H7C604_HUMAN,C9J4G8_HUMAN			YES	SEPT8,missense_variant,p.Glu406Lys,ENST00000296873,NM_001098812.1,NM_015146.1;SEPT8,missense_variant,p.Glu346Lys,ENST00000448933,NM_001098813.1;SEPT8,missense_variant,p.Glu406Lys,ENST00000378706,;SEPT8,missense_variant,p.Glu406Lys,ENST00000378719,NM_001098811.1;SEPT8,missense_variant,p.Glu346Lys,ENST00000378699,;SEPT8,missense_variant,p.Glu404Lys,ENST00000378701,;SEPT8,missense_variant,p.Glu406Lys,ENST00000458488,;SEPT8,missense_variant,p.Glu404Lys,ENST00000378721,;SEPT8,downstream_gene_variant,,ENST00000453480,;SEPT8,downstream_gene_variant,,ENST00000414594,;SEPT8,downstream_gene_variant,,ENST00000371493,;SEPT8,upstream_gene_variant,,ENST00000481030,;SEPT8,downstream_gene_variant,,ENST00000371478,;SEPT8,downstream_gene_variant,,ENST00000492490,;SEPT8,downstream_gene_variant,,ENST00000481794,;							MODERATE	1216/1452	E406K	SEPT8_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000367991		CCDS43358.1			1	
ZNF286A	0	LGGM	GRCh37	17	15619826	15619826	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	32	23	.	.	ENST00000413242.2:c.788G>A	p.Arg263Lys	p.R263K	ENST00000413242		263	aGa/aAa	0	1		UPI000013C347	0	getma.org/pdb.php?prot=Z286A_HUMAN&from=257&to=282&var=R263K	ENST00000413242		ENSG00000255104	13501		55	0.405		HGNC	p.R253K		ZNF286A		SNV							ENST00000593105	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,17,15619826,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF217,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		R/K		A	neutral	1107/4262		getma.org/?cm=msa&ty=f&p=Z286A_HUMAN&rb=237&re=302&var=R263K	tolerated(0.16)	K7EQ88_HUMAN,A1A525_HUMAN			YES	ZNF286A,missense_variant,p.Arg263Lys,ENST00000464847,NM_001288644.1,NM_001288643.1,NM_001288642.1;ZNF286A,missense_variant,p.Arg263Lys,ENST00000421016,NM_020652.2,NM_001130842.1;ZNF286A,missense_variant,p.Arg253Lys,ENST00000593105,;ZNF286A,missense_variant,p.Arg263Lys,ENST00000583566,;ZNF286A,3_prime_UTR_variant,,ENST00000395894,NM_001288648.1,NM_001288645.1,NM_001288646.1,NM_001288647.1,NM_001288649.1;ZNF286A,downstream_gene_variant,,ENST00000472486,;ZNF286A,downstream_gene_variant,,ENST00000585194,;ZNF286A,downstream_gene_variant,,ENST00000579694,;ZNF286A,downstream_gene_variant,,ENST00000581529,;ZNF286A,downstream_gene_variant,,ENST00000580393,;ZNF286A,downstream_gene_variant,,ENST00000580259,;ZNF286A,downstream_gene_variant,,ENST00000583031,;ZNF286A,intron_variant,,ENST00000585171,;ZNF286A,intron_variant,,ENST00000583675,;ZNF286A,upstream_gene_variant,,ENST00000578920,;ZNF286A,downstream_gene_variant,,ENST00000580136,;ZNF286A,missense_variant,p.Arg263Lys,ENST00000413242,;ZNF286A,missense_variant,p.Arg253Lys,ENST00000412988,;							MODERATE	788/1566	R263K	Z286A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000458062		CCDS11172.1			1	
FRAS1	0	LGGM	GRCh37	4	79353579	79353579	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	38	24	.	.	ENST00000264895.6:c.5038C>T	p.Arg1680Trp	p.R1680W	ENST00000264895	NM_025074.6	1680	Cgg/Tgg	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		62	0.345		HGNC	p.R1680W		FRAS1		SNV			1				ENST00000325942	protein_coding	getma.org/?cm=var&var=hg19,4,79353579,C,T&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878		R/W		T	neutral	5478/12479		getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1543&re=1742&var=R1679W		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Arg1680Trp,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Arg1680Trp,ENST00000325942,NM_001166133.1;FRAS1,missense_variant,p.Arg130Trp,ENST00000510944,;							MODERATE	5038/12039	R1679W	FRAS1_HUMAN			Transcript		benign(0.001)	.	ENSP00000264895		CCDS54771.1			1	
KPNB1	0	LGGM	GRCh37	17	45730238	45730238	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	26	24	.	.	ENST00000290158.4:c.278A>T	p.Asn93Ile	p.N93I	ENST00000290158	NM_002265.5	93	aAc/aTc	0	1	1	UPI0000001C21	0	getma.org/pdb.php?prot=IMB1_HUMAN&from=21&to=101&var=N93I	ENST00000290158		ENSG00000108424	6400		50	2.295		HGNC	p.N93I		KPNB1		SNV							ENST00000583648	protein_coding	getma.org/?cm=var&var=hg19,17,45730238,A,T&fts=all		PROSITE_profiles:PS50166,hmmpanther:PTHR10527:SF1,hmmpanther:PTHR10527,Pfam_domain:PF03810,SMART_domains:SM00913,Superfamily_domains:SSF48371		N/I		T	medium	685/6139		getma.org/?cm=msa&ty=f&p=IMB1_HUMAN&rb=21&re=101&var=N93I	tolerated(0.12)	J3QRG4_HUMAN,J3QR48_HUMAN,B7ZAV6_HUMAN			YES	KPNB1,missense_variant,p.Asn93Ile,ENST00000290158,NM_002265.5;KPNB1,missense_variant,p.Asn93Ile,ENST00000583648,;KPNB1,5_prime_UTR_variant,,ENST00000535458,;KPNB1,5_prime_UTR_variant,,ENST00000540627,NM_001276453.1;KPNB1,5_prime_UTR_variant,,ENST00000577875,;KPNB1,upstream_gene_variant,,ENST00000537679,;KPNB1,upstream_gene_variant,,ENST00000582097,;RP11-580I16.2,upstream_gene_variant,,ENST00000580045,;RP11-580I16.2,upstream_gene_variant,,ENST00000584391,;RP11-580I16.2,upstream_gene_variant,,ENST00000582389,;KPNB1,non_coding_transcript_exon_variant,,ENST00000577918,;							MODERATE	278/2631	N93I	IMB1_HUMAN			Transcript		benign(0.345)	.	ENSP00000290158		CCDS11513.1			1	
EPHA3	0	LGGM	GRCh37	3	89498419	89498419	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	57	24	.	.	ENST00000336596.2:c.2391C>A	p.Ala797=	p.A797=	ENST00000336596	NM_005233.5	797	gcC/gcA	0	1	1	UPI0000163BE4	0		ENST00000336596		ENSG00000044524	3387		81			HGNC	p.A797A		EPHA3		SNV			1				ENST00000494014	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112		A		A		2616/5809							YES	EPHA3,synonymous_variant,p.=,ENST00000336596,NM_005233.5;EPHA3,synonymous_variant,p.=,ENST00000494014,;							LOW	2391/2952		EPHA3_HUMAN			Transcript			.	ENSP00000337451		CCDS2922.1			1	
SLC30A9	0	LGGM	GRCh37	4	42080296	42080296	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	41	24	.	.	ENST00000264451.7:c.1616T>G	p.Ile539Ser	p.I539S	ENST00000264451	NM_006345.3	539	aTt/aGt	0	1	1	UPI000013D51C	0	NA	ENST00000264451		ENSG00000014824	1329		65	2.175		HGNC	p.I539S		SLC30A9		SNV							ENST00000264451	protein_coding	getma.org/?cm=var&var=hg19,4,42080296,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13414		I/S		G	medium	1796/6218		getma.org/?cm=msa&ty=f&p=ZNT9_HUMAN&rb=240&re=568&var=I539S	deleterious(0)				YES	SLC30A9,missense_variant,p.Ile539Ser,ENST00000264451,NM_006345.3;SLC30A9,3_prime_UTR_variant,,ENST00000513699,;SLC30A9,non_coding_transcript_exon_variant,,ENST00000509683,;SLC30A9,non_coding_transcript_exon_variant,,ENST00000505523,;							MODERATE	1616/1707	I539S	ZNT9_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000264451		CCDS3465.1			1	
C3	0	LGGM	GRCh37	19	6709784	6709784	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	42	25	.	.	ENST00000245907.6:c.1756G>C	p.Glu586Gln	p.E586Q	ENST00000245907	NM_000064.2	586	Gag/Cag	0	1	1	UPI000013EC9B	0	getma.org/pdb.php?prot=CO3_HUMAN&from=456&to=605&var=E586Q	ENST00000245907		ENSG00000125730	1318		67	1.2		HGNC	p.E586Q		C3		SNV			1				ENST00000245907	protein_coding	getma.org/?cm=var&var=hg19,19,6709784,C,G&fts=all		Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81		E/Q		G	low	1849/5263		getma.org/?cm=msa&ty=f&p=CO3_HUMAN&rb=456&re=605&var=E586Q	tolerated(0.13)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	C3,missense_variant,p.Glu586Gln,ENST00000245907,NM_000064.2;C3,downstream_gene_variant,,ENST00000597442,;C3,downstream_gene_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000600763,;C3,downstream_gene_variant,,ENST00000595577,;							MODERATE	1756/4992	E586Q	CO3_HUMAN			Transcript		benign(0.117)	.	ENSP00000245907		CCDS32883.1			1	
NWD1	0	LGGM	GRCh37	19	16918705	16918705	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	44	26	.	.	ENST00000524140.2:c.4045G>T	p.Glu1349Ter	p.E1349*	ENST00000524140	NM_001007525.3	1349	Gag/Tag	0	1		UPI0001AE63B7	0	NA	ENST00000552788		ENSG00000188039	27619		70	0		HGNC	p.E1307X		NWD1		SNV							ENST00000549814	protein_coding	getma.org/?cm=var&var=hg19,19,16918705,G,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273		E/*		T	NA	4045/6964		NA		E9PBV1_HUMAN				NWD1,stop_gained,p.Glu1349Ter,ENST00000524140,NM_001007525.3;NWD1,stop_gained,p.Glu1349Ter,ENST00000552788,;NWD1,stop_gained,p.Glu1307Ter,ENST00000549814,;NWD1,stop_gained,p.Glu1143Ter,ENST00000523826,;NWD1,stop_gained,p.Glu1349Ter,ENST00000379808,;NWD1,stop_gained,p.Glu1214Ter,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							HIGH	4045/4695	E1349*	NWD1_HUMAN			Transcript			.	ENSP00000447224					1	
PPP2R2B	0	LGGM	GRCh37	5	145969654	145969654	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	105	26	.	.	ENST00000336640.6:c.1197G>T	p.Gly399=	p.G399=	ENST00000336640	NM_181676.2	399	ggG/ggT	0	1		UPI0000EE34D6	0		ENST00000394409		ENSG00000156475	9305		131			HGNC	p.G396G	COSM1063838,COSM1063839,COSM1154405,COSM1154406	PPP2R2B		SNV			1			1,1,1,1	ENST00000394411	protein_coding			hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF1,PIRSF_domain:PIRSF037309		G		A		1362/1506				Q9NS07_HUMAN				PPP2R2B,synonymous_variant,p.=,ENST00000394413,;PPP2R2B,synonymous_variant,p.=,ENST00000356826,NM_181674.2;PPP2R2B,synonymous_variant,p.=,ENST00000394414,;PPP2R2B,synonymous_variant,p.=,ENST00000453001,;PPP2R2B,synonymous_variant,p.=,ENST00000394411,NM_001271948.1,NM_181675.3;PPP2R2B,synonymous_variant,p.=,ENST00000508545,;PPP2R2B,synonymous_variant,p.=,ENST00000394410,NM_181678.2;PPP2R2B,synonymous_variant,p.=,ENST00000504198,NM_001271900.1,NM_001271899.1,NM_181677.2;PPP2R2B,synonymous_variant,p.=,ENST00000336640,NM_181676.2;PPP2R2B,synonymous_variant,p.=,ENST00000394409,;PPP2R2B,3_prime_UTR_variant,,ENST00000512984,;RNA5SP196,upstream_gene_variant,,ENST00000516984,;CTB-99A3.1,intron_variant,,ENST00000512730,;PPP2R2B,non_coding_transcript_exon_variant,,ENST00000530902,;PPP2R2B,3_prime_UTR_variant,,ENST00000512639,;					1,1,1,1		LOW	1362/1506		2ABB_HUMAN			Transcript			.	ENSP00000377931		CCDS64281.1			1	
RGSL1	0	LGGM	GRCh37	1	182443264	182443264	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	86	26	.	.	ENST00000294854.8:c.1018A>G	p.Thr340Ala	p.T340A	ENST00000294854	NM_001137669.1	340	Acc/Gcc	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		112	0.49		HGNC	p.T340A		RGSL1		SNV							ENST00000294854	protein_coding	getma.org/?cm=var&var=hg19,1,182443264,A,G&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		T/A		G	neutral	1038/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=201&re=400&var=T340A	tolerated(0.38)	H3BNQ0_HUMAN			YES	RGSL1,missense_variant,p.Thr340Ala,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.Thr375Ala,ENST00000542961,;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Thr375Ala,ENST00000443996,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000416676,;RGSL1,upstream_gene_variant,,ENST00000415960,;RGSL1,downstream_gene_variant,,ENST00000444367,;							MODERATE	1018/3231	T340A	RGSL_HUMAN			Transcript		benign(0.008)	.	ENSP00000457748		CCDS58049.1			1	
EPHA3	0	LGGM	GRCh37	3	89498418	89498418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	57	27	.	.	ENST00000336596.2:c.2390C>A	p.Ala797Asp	p.A797D	ENST00000336596	NM_005233.5	797	gCc/gAc	0	1	1	UPI0000163BE4	0	getma.org/pdb.php?prot=EPHA3_HUMAN&from=621&to=878&var=A797D	ENST00000336596		ENSG00000044524	3387		84	0.745		HGNC	p.A797D		EPHA3		SNV			1				ENST00000494014	protein_coding	getma.org/?cm=var&var=hg19,3,89498418,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112		A/D		A	neutral	2615/5809		getma.org/?cm=msa&ty=f&p=EPHA3_HUMAN&rb=621&re=878&var=A797D	deleterious(0)				YES	EPHA3,missense_variant,p.Ala797Asp,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Ala797Asp,ENST00000494014,;							MODERATE	2390/2952	A797D	EPHA3_HUMAN			Transcript		possibly_damaging(0.488)	.	ENSP00000337451		CCDS2922.1			1	
ERP27	0	LGGM	GRCh37	12	15068497	15068497	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	33	28	.	.	ENST00000266397.2:c.700A>T	p.Thr234Ser	p.T234S	ENST00000266397	NM_152321.2	234	Aca/Tca	0	1	1	UPI0000037A99	0	getma.org/pdb.php?prot=ERP27_HUMAN&from=64&to=251&var=T234S	ENST00000266397		ENSG00000139055	26495		61	1.79		HGNC	p.T234S		ERP27		SNV							ENST00000266397	protein_coding	getma.org/?cm=var&var=hg19,12,15068497,T,A&fts=all		Gene3D:3.40.30.10,Pfam_domain:PF13848,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF77,Superfamily_domains:SSF52833		T/S		A	low	1274/2096		getma.org/?cm=msa&ty=f&p=ERP27_HUMAN&rb=64&re=251&var=T234S	deleterious(0.03)				YES	ERP27,missense_variant,p.Thr234Ser,ENST00000266397,NM_152321.2;ERP27,missense_variant,p.Thr133Ser,ENST00000540097,;ERP27,downstream_gene_variant,,ENST00000544881,;							MODERATE	700/822	T234S	ERP27_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000266397		CCDS8670.1			1	
DDX6	0	LGGM	GRCh37	11	118650418	118650418	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	34	28	.	.	ENST00000264018.4:c.292T>A	p.Phe98Ile	p.F98I	ENST00000264018	NM_004397.4	98	Ttt/Att	0	1		UPI000013D4A2	0	getma.org/pdb.php?prot=DDX6_HUMAN&from=1&to=119&var=F98I	ENST00000526070		ENSG00000110367	2747		62	2.76		HGNC	p.F98I		DDX6		SNV							ENST00000264018	protein_coding	getma.org/?cm=var&var=hg19,11,118650418,A,T&fts=all		PROSITE_profiles:PS51195,hmmpanther:PTHR24031:SF214,hmmpanther:PTHR24031,Gene3D:3.40.50.300		F/I		T	medium	653/1936		getma.org/?cm=msa&ty=f&p=DDX6_HUMAN&rb=1&re=119&var=F98I	deleterious(0)	B2R858_HUMAN				DDX6,missense_variant,p.Phe98Ile,ENST00000264018,NM_004397.4;DDX6,missense_variant,p.Phe98Ile,ENST00000534980,;DDX6,missense_variant,p.Phe98Ile,ENST00000526070,NM_001257191.1;DDX6,intron_variant,,ENST00000525082,;DDX6,downstream_gene_variant,,ENST00000531971,;							MODERATE	292/1452	F98I	DDX6_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000433704		CCDS44751.1			1	
MYL6	0	LGGM	GRCh37	12	56555179	56555179	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	30	28	.	.	ENST00000550697.1:c.*25C>T		*9*	ENST00000550697	NM_021019.4			0	1		UPI0000000E0D	0	getma.org/pdb.php?prot=Q6IBG5_HUMAN&from=1&to=116&var=R111C	ENST00000548293		ENSG00000092841	7587		58	2.68	450	HGNC	p.R191C	rs779399783,COSM941534	MYL6		SNV						0,1	ENST00000549566	protein_coding	getma.org/?cm=var&var=hg19,12,56555179,C,T&fts=all						T	medium	-/753	4.50E-05	getma.org/?cm=msa&ty=f&p=Q6IBG5_HUMAN&rb=1&re=116&var=R111C						MYL6,missense_variant,p.Arg191Cys,ENST00000549566,;MYL6,missense_variant,p.Arg147Cys,ENST00000293422,;MYL6,missense_variant,p.Arg146Cys,ENST00000547649,NM_079423.3;MYL6,missense_variant,p.Arg98Cys,ENST00000548580,;MYL6,missense_variant,p.Arg42Cys,ENST00000549017,;MYL6,3_prime_UTR_variant,,ENST00000550697,NM_021019.4;MYL6,3_prime_UTR_variant,,ENST00000348108,;MYL6,3_prime_UTR_variant,,ENST00000548400,;MYL6,intron_variant,,ENST00000547408,;SMARCC2,downstream_gene_variant,,ENST00000394023,NM_001130420.1;SMARCC2,downstream_gene_variant,,ENST00000550164,;SMARCC2,downstream_gene_variant,,ENST00000267064,NM_003075.3;SMARCC2,downstream_gene_variant,,ENST00000347471,NM_139067.2;MYL6,downstream_gene_variant,,ENST00000551589,;MYL6B,downstream_gene_variant,,ENST00000553066,;MYL6,downstream_gene_variant,,ENST00000536128,;MYL6B,downstream_gene_variant,,ENST00000550443,NM_001199629.1,NM_002475.4;MYL6B,downstream_gene_variant,,ENST00000207437,;MYL6,downstream_gene_variant,,ENST00000548293,;MYL6B,downstream_gene_variant,,ENST00000552568,;MYL6,downstream_gene_variant,,ENST00000549392,;RP11-603J24.14,upstream_gene_variant,,ENST00000548731,;RP11-977G19.5,downstream_gene_variant,,ENST00000553176,;MYL6,upstream_gene_variant,,ENST00000551954,;MYL6,downstream_gene_variant,,ENST00000552297,;MYL6,downstream_gene_variant,,ENST00000550639,;MYL6B,downstream_gene_variant,,ENST00000548571,;MYL6,non_coding_transcript_exon_variant,,ENST00000550184,;MYL6,intron_variant,,ENST00000546845,;SMARCC2,downstream_gene_variant,,ENST00000552674,;MYL6B,downstream_gene_variant,,ENST00000549178,;MYL6B,downstream_gene_variant,,ENST00000548548,;MYL6,downstream_gene_variant,,ENST00000547703,;MYL6,downstream_gene_variant,,ENST00000548725,;MYL6,downstream_gene_variant,,ENST00000546630,;MYL6B,downstream_gene_variant,,ENST00000550550,;MYL6B,downstream_gene_variant,,ENST00000549380,;	0.000116				0,1		MODIFIER	-/456	R111C	MYL6_HUMAN	0.000907		Transcript			common_variant	ENSP00000448101	8.24E-05	CCDS8906.1			1	
DSC2	0	LGGM	GRCh37	18	28673523	28673523	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	58	29	.	.	ENST00000280904.6:c.153A>T	p.Arg51Ser	p.R51S	ENST00000280904	NM_024422.3	51	agA/agT	0	1	1	UPI00001298F9	0	NA	ENST00000280904		ENSG00000134755	3036		87	2.28		HGNC	p.R51S		DSC2		SNV			1				ENST00000280904	protein_coding	getma.org/?cm=var&var=hg19,18,28673523,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08758,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0,SMART_domains:SM01055,Superfamily_domains:SSF49313		R/S		A	medium	597/5124		getma.org/?cm=msa&ty=f&p=DSC2_HUMAN&rb=28&re=119&var=R51S	deleterious(0)	A9X9L1_HUMAN			YES	DSC2,missense_variant,p.Arg51Ser,ENST00000280904,NM_024422.3;DSC2,missense_variant,p.Arg51Ser,ENST00000251081,NM_004949.3;							MODERATE	153/2706	R51S	DSC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000280904		CCDS11892.1			1	
OR6S1	0	LGGM	GRCh37	14	21109088	21109088	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	37	30	.	.	ENST00000320704.3:c.763T>A	p.Tyr255Asn	p.Y255N	ENST00000320704	NM_001001968.1	255	Tat/Aat	0	1	1	UPI000003FE0D	0	NA	ENST00000320704		ENSG00000181803	15363		67	3.575		HGNC	p.Y255N		OR6S1		SNV							ENST00000320704	protein_coding	getma.org/?cm=var&var=hg19,14,21109088,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF7,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		Y/N		T	high	763/996		getma.org/?cm=msa&ty=f&p=OR6S1_HUMAN&rb=141&re=286&var=Y255N	deleterious(0)				YES	OR6S1,missense_variant,p.Tyr255Asn,ENST00000320704,NM_001001968.1;							MODERATE	763/996	Y255N	OR6S1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000313110		CCDS32038.1			1	
CFTR	0	LGGM	GRCh37	7	117149186	117149186	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	84	30	.	.	ENST00000003084.6:c.263T>A	p.Leu88Ter	p.L88*	ENST00000003084	NM_000492.3	88	tTa/tAa	0	1	1	UPI000013C4D4	0	NA	ENST00000003084	not_provided	ENSG00000001626	1884		114	0		HGNC	p.L88X	rs397508412	CFTR		SNV			1			1	ENST00000454343	protein_coding	getma.org/?cm=var&var=hg19,7,117149186,T,A&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,Prints_domain:PR01851,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR01271,Transmembrane_helices:TMhelix		L/*		A	NA	395/6128		NA		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			YES	CFTR,stop_gained,p.Leu88Ter,ENST00000003084,NM_000492.3;CFTR,stop_gained,p.Leu88Ter,ENST00000454343,;CFTR,stop_gained,p.Leu88Ter,ENST00000426809,;CFTR,stop_gained,p.Leu7Ter,ENST00000446805,;CFTR,downstream_gene_variant,,ENST00000546407,;							HIGH	263/4443	L88*	CFTR_HUMAN			Transcript			.	ENSP00000003084		CCDS5773.1			1	
FREM2	0	LGGM	GRCh37	13	39266112	39266112	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	64	30	.	.	ENST00000280481.7:c.4631G>A	p.Ser1544Asn	p.S1544N	ENST00000280481	NM_207361.4	1544	aGt/aAt	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		94	-0.145		HGNC	p.S1544N		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39266112,G,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		S/N		A	neutral	4847/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=1401&re=1600&var=S1544N	tolerated(0.42)				YES	FREM2,missense_variant,p.Ser1544Asn,ENST00000280481,NM_207361.4;							MODERATE	4631/9510	S1544N	FREM2_HUMAN			Transcript		benign(0.01)	.	ENSP00000280481		CCDS31960.1			1	
HDAC4	0	LGGM	GRCh37	2	240003866	240003866	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	11	31	.	.	ENST00000345617.3:c.2569G>T	p.Val857Phe	p.V857F	ENST00000345617	NM_006037.3	857	Gtc/Ttc	0	1	1	UPI000013D541	0	getma.org/pdb.php?prot=HDAC4_HUMAN&from=664&to=993&var=V857F	ENST00000345617		ENSG00000068024	14063		42	3.885		HGNC	p.V857F		HDAC4		SNV			1				ENST00000345617	protein_coding	getma.org/?cm=var&var=hg19,2,240003866,C,A&fts=all		Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF100,Superfamily_domains:SSF52768		V/F		A	high	3361/8976		getma.org/?cm=msa&ty=f&p=HDAC4_HUMAN&rb=664&re=993&var=V857F	deleterious(0)	Q53SM2_HUMAN,Q53SB4_HUMAN,F5H0B1_HUMAN,F5GX36_HUMAN,C9J0X4_HUMAN			YES	HDAC4,missense_variant,p.Val857Phe,ENST00000345617,NM_006037.3;HDAC4,missense_variant,p.Val441Phe,ENST00000543185,;MIR4441,downstream_gene_variant,,ENST00000582623,;AC017028.7,downstream_gene_variant,,ENST00000579869,;AC017028.8,downstream_gene_variant,,ENST00000582701,;HDAC4,upstream_gene_variant,,ENST00000494800,;HDAC4,non_coding_transcript_exon_variant,,ENST00000487617,;							MODERATE	2569/3255	V857F	HDAC4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264606		CCDS2529.1			1	
ATP13A5	0	LGGM	GRCh37	3	193081069	193081069	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	46	32	.	.	ENST00000342358.4:c.340C>A	p.Arg114Ser	p.R114S	ENST00000342358	NM_198505.2	114	Cgc/Agc	0	1	1	UPI000050EC1D	0	NA	ENST00000342358		ENSG00000187527	31789		78	-0.345		HGNC	p.R136S		ATP13A5		SNV							ENST00000446087	protein_coding	getma.org/?cm=var&var=hg19,3,193081069,G,T&fts=all		Pfam_domain:PF12409,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093		R/S		T	neutral	458/4027		getma.org/?cm=msa&ty=f&p=AT135_HUMAN&rb=17&re=143&var=R114S	tolerated(0.32)				YES	ATP13A5,missense_variant,p.Arg114Ser,ENST00000342358,NM_198505.2;ATP13A5,missense_variant,p.Arg136Ser,ENST00000446087,;							MODERATE	340/3657	R114S	AT135_HUMAN			Transcript		benign(0.007)	.	ENSP00000341942		CCDS33914.1			1	
SYCP1	0	LGGM	GRCh37	1	115488960	115488960	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	51	33	.	.	ENST00000369522.3:c.2205T>A	p.Tyr735Ter	p.Y735*	ENST00000369522	NM_003176.2	735	taT/taA	0	1		UPI00001CE3B9	0	NA	ENST00000369518		ENSG00000198765	11487		84	0		HGNC	p.Y735X		SYCP1		SNV							ENST00000369518	protein_coding	getma.org/?cm=var&var=hg19,1,115488960,T,A&fts=all		Pfam_domain:PF05483,hmmpanther:PTHR18878		Y/*		A	NA	2378/3452		NA		Q5VXJ5_HUMAN				SYCP1,stop_gained,p.Tyr735Ter,ENST00000369522,NM_003176.2,NM_001282541.1;SYCP1,stop_gained,p.Tyr735Ter,ENST00000369518,;SYCP1,stop_gained,p.Tyr735Ter,ENST00000455987,;SYCP1,downstream_gene_variant,,ENST00000482717,;							HIGH	2205/2931	Y735*	SYCP1_HUMAN			Transcript			.	ENSP00000358531		CCDS879.1			1	
DNAH8	0	LGGM	GRCh37	6	38758073	38758073	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	108	34	.	.	ENST00000359357.3:c.2022T>A	p.Ser674=	p.S674=	ENST00000359357		674	tcT/tcA	0	1	1	UPI00003677EB	0		ENST00000359357		ENSG00000124721	2952		142			HGNC	p.S674S		DNAH8		SNV							ENST00000441566	protein_coding			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		S		A		2276/13860							YES	DNAH8,synonymous_variant,p.=,ENST00000327475,NM_001206927.1;DNAH8,synonymous_variant,p.=,ENST00000359357,;DNAH8,synonymous_variant,p.=,ENST00000441566,;DNAH8,synonymous_variant,p.=,ENST00000449981,;							LOW	2022/13473		DYH8_HUMAN			Transcript			.	ENSP00000352312					1	
BECN1	0	LGGM	GRCh37	17	40963784	40963784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	82	34	.	.	ENST00000361523.4:c.1073G>T	p.Arg358Leu	p.R358L	ENST00000361523	NM_003766.3	358	cGg/cTg	0	1	1	UPI0000126837	0	getma.org/pdb.php?prot=BECN1_HUMAN&from=115&to=450&var=R358L	ENST00000361523		ENSG00000126581	1034		116	2.045		HGNC	p.R358L		BECN1		SNV							ENST00000590099	protein_coding	getma.org/?cm=var&var=hg19,17,40963784,C,A&fts=all		Pfam_domain:PF04111,hmmpanther:PTHR12768,hmmpanther:PTHR12768:SF6		R/L		A	medium	1206/2112		getma.org/?cm=msa&ty=f&p=BECN1_HUMAN&rb=115&re=450&var=R358L	deleterious(0)	K7EQQ7_HUMAN,K7EPZ0_HUMAN,B4DS82_HUMAN			YES	BECN1,missense_variant,p.Arg358Leu,ENST00000361523,NM_003766.3;BECN1,missense_variant,p.Arg358Leu,ENST00000590099,;BECN1,missense_variant,p.Gly35Cys,ENST00000590764,;BECN1,missense_variant,p.Arg145Leu,ENST00000586754,;BECN1,intron_variant,,ENST00000438274,;BECN1,intron_variant,,ENST00000588276,;BECN1,intron_variant,,ENST00000586589,;BECN1,intron_variant,,ENST00000589663,;CNTD1,downstream_gene_variant,,ENST00000588408,NM_173478.2;CNTD1,downstream_gene_variant,,ENST00000588527,;BECN1,downstream_gene_variant,,ENST00000593205,;BECN1,downstream_gene_variant,,ENST00000590852,;CNTD1,downstream_gene_variant,,ENST00000585355,;CNTD1,downstream_gene_variant,,ENST00000586652,;CNTD1,downstream_gene_variant,,ENST00000315066,;BECN1,3_prime_UTR_variant,,ENST00000587880,;BECN1,non_coding_transcript_exon_variant,,ENST00000543382,;BECN1,non_coding_transcript_exon_variant,,ENST00000590185,;CNTD1,downstream_gene_variant,,ENST00000592166,;BECN1,downstream_gene_variant,,ENST00000589493,;BECN1,downstream_gene_variant,,ENST00000589492,;							MODERATE	1073/1353	R358L	BECN1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000355231		CCDS11441.1			1	
RWDD1	0	LGGM	GRCh37	6	116905984	116905984	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	13	34	.	.	ENST00000466444.2:c.234T>A	p.Asn78Lys	p.N78K	ENST00000466444	NM_015952.2	78	aaT/aaA	0	1	1	UPI000006CF1D	0	getma.org/pdb.php?prot=RWDD1_HUMAN&from=3&to=111&var=N78K	ENST00000466444		ENSG00000111832	20993		47	1.03		HGNC	p.N78K		RWDD1		SNV							ENST00000466444	protein_coding	getma.org/?cm=var&var=hg19,6,116905984,T,A&fts=all		Gene3D:3.10.110.10,Pfam_domain:PF05773,PROSITE_profiles:PS50908,hmmpanther:PTHR12292,SMART_domains:SM00591,Superfamily_domains:SSF54495		N/K		A	low	450/5522		getma.org/?cm=msa&ty=f&p=RWDD1_HUMAN&rb=3&re=111&var=N78K	tolerated(0.37)	E5RJE3_HUMAN,E5RGS5_HUMAN,E5RGQ3_HUMAN			YES	RWDD1,missense_variant,p.Asn78Lys,ENST00000466444,NM_015952.2;RWDD1,5_prime_UTR_variant,,ENST00000487832,NM_001007464.1;RWDD1,5_prime_UTR_variant,,ENST00000392526,NM_016104.2;RWDD1,5_prime_UTR_variant,,ENST00000368590,;RWDD1,5_prime_UTR_variant,,ENST00000518117,;RWDD1,5_prime_UTR_variant,,ENST00000468204,;RWDD1,non_coding_transcript_exon_variant,,ENST00000517800,;							MODERATE	234/732	N78K	RWDD1_HUMAN			Transcript		benign(0.099)	.	ENSP00000420357		CCDS34520.1			1	
PRKDC	0	LGGM	GRCh37	8	48839799	48839799	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	60	34	.	.	ENST00000314191.2:c.2374A>G	p.Ile792Val	p.I792V	ENST00000314191	NM_006904.6	792	Att/Gtt	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		94			HGNC	p.I792V		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371		I/V		C		2431/13506				F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Ile792Val,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Ile792Val,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000541488,;							MODERATE	2374/12384		PRKDC_HUMAN			Transcript		benign(0.163)	.	ENSP00000313420					1	
VEZT	0	LGGM	GRCh37	12	95681563	95681563	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	64	36	.	.	ENST00000436874.1:c.1452A>C	p.Ala484=	p.A484=	ENST00000436874	NM_017599.3	484	gcA/gcC	0	1	1	UPI00001FB2EC	0		ENST00000436874		ENSG00000028203	18258		100			HGNC	p.A484A		VEZT		SNV							ENST00000436874	protein_coding			hmmpanther:PTHR15989,hmmpanther:PTHR15989:SF5		A		C		1557/4562							YES	VEZT,synonymous_variant,p.=,ENST00000436874,NM_017599.3;VEZT,synonymous_variant,p.=,ENST00000261219,;VEZT,synonymous_variant,p.=,ENST00000397792,;RNU6-808P,upstream_gene_variant,,ENST00000391233,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000546398,;VEZT,intron_variant,,ENST00000551695,;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,,ENST00000548371,;VEZT,non_coding_transcript_exon_variant,,ENST00000549192,;VEZT,downstream_gene_variant,,ENST00000547611,;CBX3P5,upstream_gene_variant,,ENST00000552017,;							LOW	1452/2340		VEZA_HUMAN			Transcript			.	ENSP00000410083		CCDS44954.1			1	
BMPER	0	LGGM	GRCh37	7	34085989	34085989	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	124	36	.	.	ENST00000297161.2:c.648C>T	p.Pro216=	p.P216=	ENST00000297161	NM_133468.4	216	ccC/ccT	0	1	1	UPI000006D462	0		ENST00000297161		ENSG00000164619	24154		160			HGNC	p.P216P	rs756265693	BMPER		SNV			1				ENST00000297161	protein_coding			Pfam_domain:PF00093,PROSITE_patterns:PS01208,PROSITE_profiles:PS50184,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF254,SMART_domains:SM00214,Superfamily_domains:SSF57603		P		T		1022/5031							YES	BMPER,synonymous_variant,p.=,ENST00000297161,NM_133468.4;BMPER,synonymous_variant,p.=,ENST00000426693,;BMPER,non_coding_transcript_exon_variant,,ENST00000494786,;							LOW	648/2058		BMPER_HUMAN			Transcript			.	ENSP00000297161	8.24E-06	CCDS5442.1	0.0011		1	
PRR14L	0	LGGM	GRCh37	22	32134529	32134529	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	78	37	.	.	ENST00000327423.6:c.318G>T	p.Gly106=	p.G106=	ENST00000327423	NM_173566.2	106	ggG/ggT	0	1	1	UPI0000207582	0		ENST00000327423		ENSG00000183530	28738		115			HGNC	p.G106G		PRR14L		SNV							ENST00000327423	protein_coding			hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		G		A		508/10826				C9J9V0_HUMAN			YES	PRR14L,synonymous_variant,p.=,ENST00000327423,NM_173566.2;PRR14L,synonymous_variant,p.=,ENST00000434485,;PRR14L,synonymous_variant,p.=,ENST00000397493,;PRR14L,synonymous_variant,p.=,ENST00000412743,;PRR14L,intron_variant,,ENST00000461722,;							LOW	318/6456		PR14L_HUMAN			Transcript			.	ENSP00000331845		CCDS13900.2			1	
PNISR	0	LGGM	GRCh37	6	99848655	99848655	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	23	38	.	.	ENST00000369239.5:c.2179A>G	p.Ile727Val	p.I727V	ENST00000369239	NM_032870.2	727	Ata/Gta	0	1	1	UPI000013E3A2	0	NA	ENST00000369239		ENSG00000132424	21222	8.67E-05	61	0.55		HGNC	p.I727V	rs776325189	PNISR		SNV							ENST00000438806	protein_coding	getma.org/?cm=var&var=hg19,6,99848655,T,C&fts=all		hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518		I/V		C	neutral	2384/5112		getma.org/?cm=msa&ty=f&p=PNISR_HUMAN&rb=601&re=800&var=I727V	tolerated_low_confidence(0.18)	Q8TEZ9_HUMAN			YES	PNISR,missense_variant,p.Ile727Val,ENST00000369239,NM_032870.2;PNISR,missense_variant,p.Ile727Val,ENST00000438806,NM_015491.1;PNISR,intron_variant,,ENST00000481229,;PNISR,downstream_gene_variant,,ENST00000460600,;PNISR,downstream_gene_variant,,ENST00000476159,;PNISR,downstream_gene_variant,,ENST00000478777,;							MODERATE	2179/2418	I727V	PNISR_HUMAN			Transcript		benign(0.068)	.	ENSP00000358242	8.24E-06	CCDS5043.1			1	
PHLDB1	0	LGGM	GRCh37	11	118498759	118498759	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	54	38	.	.	ENST00000361417.2:c.1220G>A	p.Arg407His	p.R407H	ENST00000361417	NM_015157.3	407	cGt/cAt	0	1	1	UPI0000192101	0	NA	ENST00000361417		ENSG00000019144	23697		92	1.67		HGNC	p.R407H	rs548262817	PHLDB1		SNV				9.75E-05			ENST00000528594	protein_coding	getma.org/?cm=var&var=hg19,11,118498759,G,A&fts=all	A:0.0008	hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16		R/H		A	low	1631/5753	6.05E-05	getma.org/?cm=msa&ty=f&p=PHLB1_HUMAN&rb=124&re=1252&var=R407H	deleterious(0.04)		A:0	A:0	YES	PHLDB1,missense_variant,p.Arg407His,ENST00000361417,NM_015157.3;PHLDB1,missense_variant,p.Arg407His,ENST00000356063,NM_001144759.2,NM_001144758.2;PHLDB1,intron_variant,,ENST00000530708,;PHLDB1,upstream_gene_variant,,ENST00000534672,;PHLDB1,upstream_gene_variant,,ENST00000534140,;PHLDB1,downstream_gene_variant,,ENST00000532639,;PHLDB1,downstream_gene_variant,,ENST00000526374,;PHLDB1,downstream_gene_variant,,ENST00000526670,;PHLDB1,downstream_gene_variant,,ENST00000527259,;PHLDB1,missense_variant,p.Arg407His,ENST00000530994,;PHLDB1,missense_variant,p.Arg407His,ENST00000528594,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,;PHLDB1,upstream_gene_variant,,ENST00000531862,;PHLDB1,upstream_gene_variant,,ENST00000525698,;		A:0.0002					MODERATE	1220/4134	R407H	PHLB1_HUMAN		A:0	Transcript		benign(0.008)	.	ENSP00000354498	4.12E-05	CCDS8401.1		A:0	1	
CBL	0	LGGM	GRCh37	11	119142482	119142482	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	56	39	.	.	ENST00000264033.4:c.481A>T	p.Met161Leu	p.M161L	ENST00000264033	NM_005188.3	161	Atg/Ttg	0	1	1	UPI000013D4A7	0	getma.org/pdb.php?prot=CBL_HUMAN&from=47&to=176&var=M161L	ENST00000264033		ENSG00000110395	1541		95	2.265		HGNC	p.M161L		CBL		SNV			1				ENST00000264033	protein_coding	getma.org/?cm=var&var=hg19,11,119142482,A,T&fts=all		Superfamily_domains:0045208,Gene3D:3buxB01,Pfam_domain:PF02262,PROSITE_profiles:PS51506,hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5		M/L		T	medium	857/11465		getma.org/?cm=msa&ty=f&p=CBL_HUMAN&rb=47&re=176&var=M161L	deleterious(0.01)				YES	CBL,missense_variant,p.Met161Leu,ENST00000264033,NM_005188.3;							MODERATE	481/2721	M161L	CBL_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000264033		CCDS8418.1			1	
TTF1	0	LGGM	GRCh37	9	135277967	135277967	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	57	39	.	.	ENST00000334270.2:c.242C>T	p.Ser81Phe	p.S81F	ENST00000334270	NM_001205296.1	81	tCc/tTc	0	1	1	UPI00001B55A7	0	NA	ENST00000334270		ENSG00000125482	12397		96	1.32		HGNC	p.S81F		TTF1		SNV							ENST00000334270	protein_coding	getma.org/?cm=var&var=hg19,9,135277967,G,A&fts=all				S/F		A	low	282/3052		getma.org/?cm=msa&ty=f&p=TTF1_HUMAN&rb=1&re=489&var=S81F	deleterious(0)				YES	TTF1,missense_variant,p.Ser81Phe,ENST00000334270,NM_001205296.1,NM_007344.3;							MODERATE	242/2718	S81F	TTF1_HUMAN			Transcript		benign(0.02)	.	ENSP00000333920		CCDS6948.1			1	
RIN2	0	LGGM	GRCh37	20	19945630	19945630	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	104	39	.	.	ENST00000255006.6:c.645A>C	p.Ala215=	p.A215=	ENST00000255006	NM_018993.3	215	gcA/gcC	0	1	1	UPI00004709D0	0		ENST00000255006		ENSG00000132669	18750		143			HGNC	p.A215A		RIN2		SNV			1				ENST00000255006	protein_coding			PROSITE_profiles:PS50001,hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF51,Gene3D:3.30.505.10,Superfamily_domains:SSF55550		A		C		794/4505							YES	RIN2,synonymous_variant,p.=,ENST00000255006,NM_018993.3,NM_001242581.1;RIN2,intron_variant,,ENST00000440354,;RIN2,non_coding_transcript_exon_variant,,ENST00000467569,;RIN2,intron_variant,,ENST00000484638,;							LOW	645/2835		RIN2_HUMAN			Transcript			.	ENSP00000255006		CCDS56182.1			1	
ACACA	0	LGGM	GRCh37	17	35600400	35600400	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	75	40	.	.	ENST00000353139.5:c.2818A>T	p.Met940Leu	p.M940L	ENST00000353139	NM_198834.1	940	Atg/Ttg	0	1	1	UPI00002263AC	0	NA	ENST00000353139		ENSG00000132142	84		115	1.22		HGNC	p.M940L		ACACA		SNV			1				ENST00000353139	protein_coding	getma.org/?cm=var&var=hg19,17,35600400,T,A&fts=all		hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF08326		M/L		A	low	3300/9962		getma.org/?cm=msa&ty=f&p=ACACA_HUMAN&rb=819&re=1569&var=M903L	tolerated(0.49)	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN			YES	ACACA,missense_variant,p.Met940Leu,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,missense_variant,p.Met845Leu,ENST00000360679,NM_198837.1;ACACA,missense_variant,p.Met903Leu,ENST00000394406,NM_198836.1;ACACA,missense_variant,p.Met825Leu,ENST00000335166,NM_198838.1;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;ACACA,downstream_gene_variant,,ENST00000592243,;							MODERATE	2818/7152	M903L	ACACA_HUMAN			Transcript		possibly_damaging(0.8)	.	ENSP00000344789		CCDS42302.1			1	
SLC39A1	0	LGGM	GRCh37	1	153934701	153934701	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	108	41	.	.	ENST00000368623.3:c.313G>T	p.Val105Leu	p.V105L	ENST00000368623		105	Gtg/Ttg	0	1		UPI000006DDFE	0	NA	ENST00000310483		ENSG00000143570	12876		149	-0.61		HGNC	p.V105L		SLC39A1		SNV							ENST00000368623	protein_coding	getma.org/?cm=var&var=hg19,1,153934701,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11040,hmmpanther:PTHR11040:SF30,Pfam_domain:PF02535		V/L		A	neutral	779/2427		getma.org/?cm=msa&ty=f&p=S39A1_HUMAN&rb=27&re=320&var=V105L	tolerated(0.49)	Q5T4K4_HUMAN,Q5T4K3_HUMAN,Q5T4K2_HUMAN,B4DNN0_HUMAN				SLC39A1,missense_variant,p.Val105Leu,ENST00000368623,;SLC39A1,missense_variant,p.Val105Leu,ENST00000310483,NM_014437.4,NM_001271960.1;SLC39A1,missense_variant,p.Val105Leu,ENST00000368621,NM_001271959.1,NM_001271957.1;SLC39A1,missense_variant,p.Val105Leu,ENST00000356205,NM_001271958.1;SLC39A1,missense_variant,p.Val105Leu,ENST00000429040,;SLC39A1,missense_variant,p.Val105Leu,ENST00000413622,;SLC39A1,missense_variant,p.Val105Leu,ENST00000417348,;SLC39A1,intron_variant,,ENST00000537590,;CRTC2,upstream_gene_variant,,ENST00000368633,NM_181715.2;CRTC2,upstream_gene_variant,,ENST00000368630,;RP11-422P24.10,upstream_gene_variant,,ENST00000608147,;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,;							MODERATE	313/975	V105L	S39A1_HUMAN			Transcript		benign(0.027)	.	ENSP00000309710		CCDS1055.1			1	
XPO1	0	LGGM	GRCh37	2	61719561	61719561	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	11	42	.	.	ENST00000401558.2:c.1622C>T	p.Ala541Val	p.A541V	ENST00000401558	NM_003400.3	541	gCa/gTa	0	1	1	UPI0000001C23	0	getma.org/pdb.php?prot=XPO1_HUMAN&from=469&to=668&var=A541V	ENST00000401558		ENSG00000082898	12825		53	3.02		HGNC	p.A541V		XPO1		SNV							ENST00000406957	protein_coding	getma.org/?cm=var&var=hg19,2,61719561,G,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR11223,Superfamily_domains:SSF48371		A/V		A	medium	2350/4915		getma.org/?cm=msa&ty=f&p=XPO1_HUMAN&rb=469&re=668&var=A541V	deleterious(0)	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN			YES	XPO1,missense_variant,p.Ala541Val,ENST00000401558,NM_003400.3;XPO1,missense_variant,p.Ala541Val,ENST00000404992,;XPO1,missense_variant,p.Ala541Val,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,non_coding_transcript_exon_variant,,ENST00000469337,;XPO1,upstream_gene_variant,,ENST00000461407,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,downstream_gene_variant,,ENST00000475744,;							MODERATE	1622/3216	A541V	XPO1_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000384863		CCDS33205.1			1	
STARD6	0	LGGM	GRCh37	18	51880868	51880868	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	80	43	.	.	ENST00000581310.1:c.76G>A	p.Val26Met	p.V26M	ENST00000581310		26	Gtg/Atg	0	1		UPI0000136137	0	getma.org/pdb.php?prot=STAR6_HUMAN&from=6&to=209&var=V26M	ENST00000307844		ENSG00000174448	18066		123	2.005		HGNC	p.V26M		STARD6		SNV							ENST00000581310	protein_coding	getma.org/?cm=var&var=hg19,18,51880868,C,T&fts=all		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7,Low_complexity_(Seg):seg,SMART_domains:SM00234,Superfamily_domains:SSF55961		V/M		T	medium	76/663		getma.org/?cm=msa&ty=f&p=STAR6_HUMAN&rb=6&re=209&var=V26M	deleterious(0.05)					STARD6,missense_variant,p.Val26Met,ENST00000581310,;STARD6,missense_variant,p.Val26Met,ENST00000577499,;STARD6,missense_variant,p.Val26Met,ENST00000307844,NM_139171.1;STARD6,missense_variant,p.Val26Met,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000300091,NM_173529.4;C18orf54,upstream_gene_variant,,ENST00000382911,;STARD6,upstream_gene_variant,,ENST00000580990,;C18orf54,upstream_gene_variant,,ENST00000578138,;							MODERATE	76/663	V26M	STAR6_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000310814		CCDS11955.1			1	
MBOAT2	0	LGGM	GRCh37	2	9017236	9017236	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	16	43	.	.	ENST00000305997.3:c.614G>C	p.Arg205Thr	p.R205T	ENST00000305997	NM_138799.2	205	aGa/aCa	0	1	1	UPI0000231CFB	0	NA	ENST00000305997		ENSG00000143797	25193		59	0.3		HGNC	p.R10T		MBOAT2		SNV							ENST00000471753	protein_coding	getma.org/?cm=var&var=hg19,2,9017236,C,G&fts=all		Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7		R/T		G	neutral	813/7751		getma.org/?cm=msa&ty=f&p=MBOA2_HUMAN&rb=115&re=438&var=R205T	tolerated(0.2)	B0AZU0_HUMAN			YES	MBOAT2,missense_variant,p.Arg205Thr,ENST00000305997,NM_138799.2;MBOAT2,downstream_gene_variant,,ENST00000462696,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,missense_variant,p.Arg10Thr,ENST00000471753,;MBOAT2,3_prime_UTR_variant,,ENST00000477073,;							MODERATE	614/1563	R205T	MBOA2_HUMAN			Transcript		benign(0.192)	.	ENSP00000302177		CCDS1660.1			1	
PCDH20	0	LGGM	GRCh37	13	61986722	61986722	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	65	44	.	.	ENST00000409186.1:c.1510G>T	p.Glu504Ter	p.E504*	ENST00000409186		504	Gaa/Taa	0	1	1	UPI000007371F	0	NA	ENST00000409186		ENSG00000197991	14257		109	0		HGNC	p.E504X		PCDH20		SNV							ENST00000409204	protein_coding	getma.org/?cm=var&var=hg19,13,61986722,C,A&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/*		A	NA	3616/6347		NA		B3KSZ7_HUMAN			YES	PCDH20,stop_gained,p.Glu504Ter,ENST00000409186,;PCDH20,stop_gained,p.Glu504Ter,ENST00000409204,NM_022843.3;							HIGH	1510/2856	E477*	PCD20_HUMAN			Transcript			.	ENSP00000386653		CCDS9442.2			1	
PTCHD1	0	LGGM	GRCh37	X	23411523	23411523	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	10	44	.	.	ENST00000379361.4:c.1888A>G	p.Ile630Val	p.I630V	ENST00000379361	NM_173495.2	630	Atc/Gtc	0	1	1	UPI000059DAD8	0	NA	ENST00000379361		ENSG00000165186	26392		54	1.62		HGNC	p.I630V		PTCHD1		SNV			1				ENST00000379361	protein_coding	getma.org/?cm=var&var=hg19,X,23411523,A,G&fts=all		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36		I/V		G	low	2748/13714		getma.org/?cm=msa&ty=f&p=PTHD1_HUMAN&rb=52&re=851&var=I630V	deleterious(0.03)				YES	PTCHD1,missense_variant,p.Ile630Val,ENST00000379361,NM_173495.2;PTCHD1,downstream_gene_variant,,ENST00000456522,;							MODERATE	1888/2667	I630V	PTHD1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000368666		CCDS35215.2			1	
CRISPLD1	0	LGGM	GRCh37	8	75929613	75929613	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	77	46	.	.	ENST00000262207.4:c.1055G>A	p.Trp352Ter	p.W352*	ENST00000262207	NM_031461.5	352	tGg/tAg	0	1	1	UPI00000422F5	0	NA	ENST00000262207		ENSG00000121005	18206		123	0		HGNC	p.W352X		CRISPLD1		SNV							ENST00000262207	protein_coding	getma.org/?cm=var&var=hg19,8,75929613,G,A&fts=all		Superfamily_domains:0039469,Gene3D:1jbiA00,Pfam_domain:PF03815,PROSITE_profiles:PS50820,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF73,SMART_domains:SM00603		W/*		A	NA	1523/4287		NA		E5RJS4_HUMAN,B7Z8V9_HUMAN			YES	CRISPLD1,stop_gained,p.Trp352Ter,ENST00000262207,NM_031461.5,NM_001286778.1;CRISPLD1,stop_gained,p.Trp164Ter,ENST00000523524,;CRISPLD1,stop_gained,p.Trp166Ter,ENST00000517786,NM_001286777.1;CRISPLD1,downstream_gene_variant,,ENST00000520277,;CRISPLD1,downstream_gene_variant,,ENST00000519798,;							HIGH	1055/1503	W352*	CRLD1_HUMAN			Transcript			.	ENSP00000262207		CCDS6219.1			1	
OR5B3	0	LGGM	GRCh37	11	58170805	58170805	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	66	47	.	.	ENST00000309403.2:c.78T>A	p.Phe26Leu	p.F26L	ENST00000309403	NM_001005469.1	26	ttT/ttA	0	1	1	UPI0000041DD0	0	NA	ENST00000309403		ENSG00000172769	8324		113	2.69		HGNC	p.F26L		OR5B3		SNV							ENST00000309403	protein_coding	getma.org/?cm=var&var=hg19,11,58170805,A,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF15,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		F/L		T	medium	78/946		getma.org/?cm=msa&ty=f&p=OR5B3_HUMAN&rb=1&re=136&var=F26L	deleterious_low_confidence(0.05)				YES	OR5B3,missense_variant,p.Phe26Leu,ENST00000309403,NM_001005469.1;							MODERATE	78/945	F26L	OR5B3_HUMAN			Transcript		benign(0.023)	.	ENSP00000308270		CCDS31549.1			1	
ZNF860	0	LGGM	GRCh37	3	32031134	32031134	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	99	47	.	.	ENST00000360311.4:c.563C>A	p.Ser188Ter	p.S188*	ENST00000360311	NM_001137674.2	188	tCa/tAa	0	1	1	UPI0000D61AE9	0	NA	ENST00000360311		ENSG00000197385	34513		146	0		HGNC	p.S188X		ZNF860		SNV							ENST00000360311	protein_coding	getma.org/?cm=var&var=hg19,3,32031134,C,A&fts=all		hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF1		S/*		A	NA	1112/3098		NA					YES	ZNF860,stop_gained,p.Ser188Ter,ENST00000360311,NM_001137674.2;OSBPL10,intron_variant,,ENST00000479173,;ZNF860,downstream_gene_variant,,ENST00000489408,;							HIGH	563/1899	S188*	ZN860_HUMAN			Transcript			.	ENSP00000373274		CCDS46784.1			1	
NRXN3	0	LGGM	GRCh37	14	79117579	79117579	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	90	47	.	.	ENST00000554719.1:c.12G>C	p.Ser4=	p.S4=	ENST00000554719	NM_004796.5	4	tcG/tcC	0	1	1	UPI0000167BBA	0		ENST00000554719		ENSG00000021645	8010		137			HGNC	p.S4S		NRXN3		SNV							ENST00000335750	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Gene3D:2.60.120.200		S		C		503/4156				G3V4R9_HUMAN,G3V247_HUMAN			YES	NRXN3,synonymous_variant,p.=,ENST00000554719,NM_004796.5;NRXN3,synonymous_variant,p.=,ENST00000335750,;NRXN3,synonymous_variant,p.=,ENST00000553363,;NRXN3,intron_variant,,ENST00000553631,;NRXN3,synonymous_variant,p.=,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;							LOW	Dec-86		NRX3A_HUMAN			Transcript			.	ENSP00000451648		CCDS9870.1			1	
ATP5G3	0	LGGM	GRCh37	2	176044826	176044826	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	19	48	.	.	ENST00000284727.4:c.120G>A	p.Glu40=	p.E40=	ENST00000284727	NM_001689.4	40	gaG/gaA	0	1	1	UPI0000000B4F	0		ENST00000284727		ENSG00000154518	843		67			HGNC	p.E40E		ATP5G3		SNV							ENST00000392541	protein_coding			hmmpanther:PTHR10031,hmmpanther:PTHR10031:SF3		E		T		3145/5484							YES	ATP5G3,splice_region_variant,p.=,ENST00000284727,NM_001689.4,NM_001002258.4;ATP5G3,splice_region_variant,p.=,ENST00000392541,;ATP5G3,splice_region_variant,p.=,ENST00000409194,;Y_RNA,upstream_gene_variant,,ENST00000363251,;ATP5G3,splice_region_variant,,ENST00000497075,;ATP5G3,non_coding_transcript_exon_variant,,ENST00000472782,;AC096649.1,upstream_gene_variant,,ENST00000416186,;							LOW	120/429		AT5G3_HUMAN			Transcript			.	ENSP00000284727		CCDS2263.1			1	
MYH10	0	LGGM	GRCh37	17	8411982	8411982	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	68	49	.	.	ENST00000360416.3:c.3104T>G	p.Met1035Arg	p.M1035R	ENST00000360416	NM_001256012.1	1035	aTg/aGg	0	1		UPI000020093B	0	NA	ENST00000269243		ENSG00000133026	7568		117	2.135		HGNC	p.M1004R		MYH10		SNV							ENST00000269243	protein_coding	getma.org/?cm=var&var=hg19,17,8411982,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Superfamily_domains:SSF90257		M/R		C	medium	3150/7662		getma.org/?cm=msa&ty=f&p=MYH10_HUMAN&rb=808&re=1007&var=M1004R		Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN				MYH10,missense_variant,p.Met1035Arg,ENST00000360416,NM_001256012.1;MYH10,missense_variant,p.Met1025Arg,ENST00000396239,;MYH10,missense_variant,p.Met1020Arg,ENST00000379980,NM_001256095.1;MYH10,missense_variant,p.Met1004Arg,ENST00000269243,NM_005964.3;RNU7-43P,upstream_gene_variant,,ENST00000516554,;MYH10,non_coding_transcript_exon_variant,,ENST00000465458,;							MODERATE	3011/5931	M1004R	MYH10_HUMAN			Transcript		benign(0)	.	ENSP00000269243		CCDS11144.1			1	
MUC12	0	LGGM	GRCh37	7	100635003	100635003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	266	51	.	.	ENST00000536621.1:c.1159G>A	p.Ala387Thr	p.A387T	ENST00000536621	NM_001164462.1	387	Gca/Aca	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		317	0		HGNC	p.A387T		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100635003,G,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9,Low_complexity_(Seg):seg		A/T		A	neutral	1588/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=A530T						MUC12,missense_variant,p.Ala530Thr,ENST00000379442,;MUC12,missense_variant,p.Ala387Thr,ENST00000536621,NM_001164462.1;							MODERATE	1588/16437	A530T	MUC12_HUMAN			Transcript		possibly_damaging(0.494)	.	ENSP00000368755					1	
IRAK3	0	LGGM	GRCh37	12	66641759	66641759	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	61	52	.	.	ENST00000261233.4:c.1599C>T	p.Asn533=	p.N533=	ENST00000261233	NM_007199.2	533	aaC/aaT	0	1	1	UPI000013D14A	0		ENST00000261233		ENSG00000090376	17020		113			HGNC	p.N472N		IRAK3		SNV			1				ENST00000457197	protein_coding					N		T		2020/8663							YES	IRAK3,synonymous_variant,p.=,ENST00000261233,NM_007199.2;IRAK3,synonymous_variant,p.=,ENST00000457197,NM_001142523.1;RP11-335I12.2,downstream_gene_variant,,ENST00000536412,;							LOW	1599/1791		IRAK3_HUMAN			Transcript			.	ENSP00000261233		CCDS8975.1			1	
GPR116	0	LGGM	GRCh37	6	46847663	46847663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	30	54	.	.	ENST00000283296.7:c.928C>A	p.Gln310Lys	p.Q310K	ENST00000283296	NM_001098518.1	310	Cag/Aag	0	1		UPI000007075A	0	NA	ENST00000265417		ENSG00000069122	19030		84	-0.345		HGNC	p.Q310K		GPR116		SNV							ENST00000362015	protein_coding	getma.org/?cm=var&var=hg19,6,46847663,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/K		T	neutral	1162/5668		getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=278&re=367&var=Q310K	tolerated(0.95)					GPR116,missense_variant,p.Gln310Lys,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Gln310Lys,ENST00000362015,;GPR116,missense_variant,p.Gln310Lys,ENST00000265417,NM_015234.4;GPR116,intron_variant,,ENST00000456426,;							MODERATE	928/4041	Q310K	GP116_HUMAN			Transcript		benign(0.007)	.	ENSP00000265417		CCDS4919.1			1	
SLC12A1	0	LGGM	GRCh37	15	48500234	48500234	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	98	55	.	.	ENST00000396577.3:c.318G>A	p.Met106Ile	p.M106I	ENST00000396577	NM_001184832.1	106	atG/atA	0	1		UPI0000229BFB	0	NA	ENST00000380993		ENSG00000074803	10910		153	-0.49		HGNC	p.M106I		SLC12A1		SNV			1				ENST00000396577	protein_coding	getma.org/?cm=var&var=hg19,15,48500234,G,A&fts=all		hmmpanther:PTHR11827:SF45,hmmpanther:PTHR11827,Pfam_domain:PF08403,TIGRFAM_domain:TIGR00930		M/I		A	neutral	534/4707		getma.org/?cm=msa&ty=f&p=S12A1_HUMAN&rb=89&re=161&var=M106I	tolerated(1)	O76029_HUMAN,H0YLJ2_HUMAN				SLC12A1,missense_variant,p.Met106Ile,ENST00000396577,NM_001184832.1;SLC12A1,missense_variant,p.Met106Ile,ENST00000380993,NM_000338.2;SLC12A1,missense_variant,p.Met106Ile,ENST00000558405,;SLC12A1,missense_variant,p.Met106Ile,ENST00000330289,;SLC12A1,missense_variant,p.Met106Ile,ENST00000561031,;SLC12A1,intron_variant,,ENST00000559641,;CTXN2,downstream_gene_variant,,ENST00000417307,NM_001145668.1;SLC12A1,intron_variant,,ENST00000561127,;							MODERATE	318/3300	M106I	S12A1_HUMAN			Transcript		benign(0.003)	.	ENSP00000370381		CCDS10129.2			1	
RNF17	0	LGGM	GRCh37	13	25373589	25373589	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	55	57	.	.	ENST00000255324.5:c.1456A>G	p.Thr486Ala	p.T486A	ENST00000255324	NM_031277.2	486	Aca/Gca	0	1	1	UPI00001FC8BA	0	NA	ENST00000255324		ENSG00000132972	10060		112	0.805		HGNC	p.T486A		RNF17		SNV							ENST00000381921	protein_coding	getma.org/?cm=var&var=hg19,13,25373589,A,G&fts=all		hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748		T/A		G	low	1508/5119		getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=411&re=532&var=T486A	deleterious(0)				YES	RNF17,missense_variant,p.Thr486Ala,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Thr486Ala,ENST00000381921,;RNF17,missense_variant,p.Thr486Ala,ENST00000255325,;RNF17,upstream_gene_variant,,ENST00000418120,;RNF17,downstream_gene_variant,,ENST00000255326,;							MODERATE	1456/4872	T486A	RNF17_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000255324		CCDS9308.2			1	
GPR98	0	LGGM	GRCh37	5	90119284	90119284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050154	H050154N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	85	57	.	.	ENST00000405460.2:c.16239C>A	p.Asn5413Lys	p.N5413K	ENST00000405460	NM_032119.3	5413	aaC/aaA	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		142	2.2		HGNC	p.N5413K		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90119284,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		N/K		A	medium	16335/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=5334&re=5533&var=N5413K					YES	GPR98,missense_variant,p.Asn5413Lys,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Asn1074Lys,ENST00000425867,;							MODERATE	16239/18921	N5413K	GPR98_HUMAN			Transcript		possibly_damaging(0.727)	.	ENSP00000384582		CCDS47246.1			1	
CLINT1	0	LGGM	GRCh37	5	157236649	157236649	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	80	59	.	.	ENST00000523908.1:c.682C>T	p.Pro228Ser	p.P228S	ENST00000523908		228	Cca/Tca	0	1		UPI000006F089	0	NA	ENST00000411809		ENSG00000113282	23186		139	1.975		HGNC	p.P210S		CLINT1		SNV							ENST00000523094	protein_coding	getma.org/?cm=var&var=hg19,5,157236649,G,A&fts=all		hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF47		P/S		A	medium	887/3440		getma.org/?cm=msa&ty=f&p=EPN4_HUMAN&rb=167&re=623&var=P228S	deleterious(0.01)					CLINT1,missense_variant,p.Pro210Ser,ENST00000523094,NM_001195556.1,NM_001195555.1;CLINT1,missense_variant,p.Pro210Ser,ENST00000296951,;CLINT1,missense_variant,p.Pro228Ser,ENST00000411809,NM_014666.3;CLINT1,missense_variant,p.Pro210Ser,ENST00000530742,;CLINT1,missense_variant,p.Pro228Ser,ENST00000523908,;CLINT1,upstream_gene_variant,,ENST00000521615,;RNU6-260P,downstream_gene_variant,,ENST00000384092,;CLINT1,upstream_gene_variant,,ENST00000530302,;							MODERATE	682/1878	P228S	EPN4_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000388340		CCDS47330.1			1	
SLC7A11	0	LGGM	GRCh37	4	139153467	139153467	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	77	59	.	.	ENST00000280612.5:c.474T>A	p.Cys158Ter	p.C158*	ENST00000280612	NM_014331.3	158	tgT/tgA	0	1	1	UPI0000138FD5	0	NA	ENST00000280612		ENSG00000151012	11059		136	0		HGNC	p.C158X		SLC7A11		SNV							ENST00000280612	protein_coding	getma.org/?cm=var&var=hg19,4,139153467,A,T&fts=all		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF248,Pfam_domain:PF13520,TIGRFAM_domain:TIGR00911,PIRSF_domain:PIRSF006060		C/*		T	NA	754/9645		NA		Q9P1X0_HUMAN,Q4W5A5_HUMAN			YES	SLC7A11,stop_gained,p.Cys158Ter,ENST00000280612,NM_014331.3;							HIGH	474/1506	C158*	XCT_HUMAN			Transcript			.	ENSP00000280612		CCDS3742.1			1	
OR5H6	0	LGGM	GRCh37	3	97983698	97983698	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	103	63	.	.	ENST00000383696.2:c.570A>G	p.Ile190Met	p.I190M	ENST00000383696	NM_001005479.1	190	atA/atG	0	1	1	UPI000004B1EC	0	NA	ENST00000383696		ENSG00000230301	14767		166	3.26		HGNC	p.I190M		OR5H6		SNV							ENST00000383696	protein_coding	getma.org/?cm=var&var=hg19,3,97983698,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF231,Superfamily_domains:SSF81321		I/M		G	medium	611/1113		getma.org/?cm=msa&ty=f&p=OR5H6_HUMAN&rb=155&re=299&var=I190M	deleterious(0.02)				YES	OR5H6,missense_variant,p.Ile190Met,ENST00000383696,NM_001005479.1;RP11-325B23.2,intron_variant,,ENST00000508616,;							MODERATE	570/978	I190M	OR5H6_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000373196		CCDS33800.1			1	
FAM228B	0	LGGM	GRCh37	2	24360858	24360858	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	19	71	.	.	ENST00000420135.2:c.248G>T	p.Cys83Phe	p.C83F	ENST00000420135		83	tGt/tTt	0	1	1	UPI0001AE7682	0	NA	ENST00000420135		ENSG00000219626	24736		90	0		HGNC	p.C83F		FAM228B		SNV							ENST00000420135	protein_coding	getma.org/?cm=var&var=hg19,2,24360858,G,T&fts=all				C/F		T	neutral	334/1354		getma.org/?cm=msa&ty=f&p=B5MD07_HUMAN&rb=1&re=308&var=C83F	deleterious(0.02)	C9JGZ2_HUMAN			YES	FAM228B,missense_variant,p.Cys83Phe,ENST00000407625,NM_001145710.1;FAM228B,missense_variant,p.Cys83Phe,ENST00000420135,;FAM228B,intron_variant,,ENST00000468799,;FAM228B,intron_variant,,ENST00000486967,;RP11-507M3.1,intron_variant,,ENST00000584973,;FAM228B,intron_variant,,ENST00000417898,;							MODERATE	248/972	C83F				Transcript		benign(0.047)	.	ENSP00000389043					1	
MGAM	0	LGGM	GRCh37	7	141762428	141762428	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050154	H050154N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	64	74	.	.	ENST00000549489.2:c.4183A>C	p.Lys1395Gln	p.K1395Q	ENST00000549489	NM_004668.2	1395	Aag/Cag	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=1215&to=1717&var=K1395Q	ENST00000549489		ENSG00000257335	7043		138	1.68		HGNC	p.K1395Q		MGAM		SNV							ENST00000549489	protein_coding	getma.org/?cm=var&var=hg19,7,141762428,A,C&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055		K/Q		C	low	4278/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=1215&re=1717&var=K1395Q	tolerated(0.28)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Lys1395Gln,ENST00000475668,;MGAM,missense_variant,p.Lys1395Gln,ENST00000549489,NM_004668.2;							MODERATE	4183/5574	K1395Q	MGA_HUMAN			Transcript		benign(0.011)	.	ENSP00000447378		CCDS47727.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43846318	43846318	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	106	77	.	.	ENST00000389420.3:c.1941C>T	p.Gly647=	p.G647=	ENST00000389420	NM_025003.3	647	ggC/ggT	0	1	1	UPI00004565F4	0		ENST00000389420		ENSG00000173157	17178		183			HGNC	p.G647G		ADAMTS20		SNV							ENST00000389420	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165		G		A		1941/6076							YES	ADAMTS20,splice_region_variant,p.=,ENST00000389420,NM_025003.3;ADAMTS20,splice_region_variant,p.=,ENST00000553158,;							LOW	1941/5733		ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
RYR2	0	LGGM	GRCh37	1	237801727	237801727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	194	81	.	.	ENST00000366574.2:c.6863T>A	p.Ile2288Asn	p.I2288N	ENST00000366574	NM_001035.2	2288	aTt/aAt	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		275	2.045		HGNC	p.I2272N		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237801727,T,A&fts=all		Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		I/N		A	medium	7180/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=2121&re=2332&var=I2288N		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Ile2288Asn,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ile2272Asn,ENST00000542537,;RYR2,missense_variant,p.Ile2286Asn,ENST00000360064,;							MODERATE	6863/14904	I2288N	RYR2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000355533		CCDS55691.1			1	
ZDHHC17	0	LGGM	GRCh37	12	77222243	77222243	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	155	88	.	.	ENST00000426126.2:c.1114G>T	p.Val372Leu	p.V372L	ENST00000426126	NM_015336.2	372	Gtg/Ttg	0	1	1	UPI0000051F55	0	NA	ENST00000426126		ENSG00000186908	18412		243	0.65		HGNC	p.V372L		ZDHHC17		SNV							ENST00000426126	protein_coding	getma.org/?cm=var&var=hg19,12,77222243,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18		V/L		T	neutral	1763/5259		getma.org/?cm=msa&ty=f&p=ZDH17_HUMAN&rb=312&re=390&var=V372L	tolerated(0.18)	A8KA01_HUMAN			YES	ZDHHC17,missense_variant,p.Val372Leu,ENST00000426126,NM_015336.2;ZDHHC17,missense_variant,p.Val372Leu,ENST00000334822,;ZDHHC17,downstream_gene_variant,,ENST00000550876,;ZDHHC17,downstream_gene_variant,,ENST00000546778,;ZDHHC17,downstream_gene_variant,,ENST00000552453,;							MODERATE	1114/1899	V372L	ZDH17_HUMAN			Transcript		benign(0)	.	ENSP00000403397		CCDS44946.1			1	
CEP170	0	LGGM	GRCh37	1	243319542	243319542	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050154	H050154N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	61	89	.	.	ENST00000366542.1:c.3892C>T	p.His1298Tyr	p.H1298Y	ENST00000366542	NM_014812.2	1298	Cat/Tat	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		150	1.735		HGNC	p.H24Y		CEP170		SNV							ENST00000490813	protein_coding	getma.org/?cm=var&var=hg19,1,243319542,G,A&fts=all		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		H/Y		A	low	3944/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=1248&re=1447&var=H1298Y	deleterious(0)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.His1298Tyr,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.His1200Tyr,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.His1164Tyr,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.His1262Tyr,ENST00000336415,;CEP170,missense_variant,p.His24Tyr,ENST00000481987,;CEP170,missense_variant,p.His24Tyr,ENST00000490813,;CEP170,missense_variant,p.His107Tyr,ENST00000413359,;CEP170,missense_variant,p.His24Tyr,ENST00000464936,;CEP170,missense_variant,p.His24Tyr,ENST00000492145,;							MODERATE	3892/4755	H1298Y	CE170_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000355500		CCDS44339.1			1	
KDM2A	0	LGGM	GRCh37	11	66999415	66999415	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050154	H050154N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050154N.bam, H050154T.bam	Illumina HiSeq	128	99	.	.	ENST00000529006.2:c.1463T>G	p.Leu488Arg	p.L488R	ENST00000529006	NM_012308.2	488	cTc/cGc	0	1	1	UPI00001678A9	0	NA	ENST00000529006		ENSG00000173120	13606		227	1.89		HGNC	p.L488R		KDM2A		SNV							ENST00000398645	protein_coding	getma.org/?cm=var&var=hg19,11,66999415,T,G&fts=all		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3		L/R		G	low	1909/6967		getma.org/?cm=msa&ty=f&p=KDM2A_HUMAN&rb=300&re=499&var=L488R	deleterious(0)	I3VM54_HUMAN,I3VM53_HUMAN			YES	KDM2A,missense_variant,p.Leu488Arg,ENST00000529006,NM_012308.2;KDM2A,missense_variant,p.Leu488Arg,ENST00000398645,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,non_coding_transcript_exon_variant,,ENST00000525041,;							MODERATE	1463/3489	L488R	KDM2A_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000432786		CCDS44657.1			1	
CC2D1B	0	LGGM	GRCh37	1	52823356	52823356	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	5	2	.	.	ENST00000371586.2:c.1612G>T	p.Ala538Ser	p.A538S	ENST00000371586	NM_032449.2	538	Gca/Tca	0	1	1	UPI00001609B7	0	NA	ENST00000371586		ENSG00000154222	29386		7	2.395		HGNC	p.A532S		CC2D1B		SNV							ENST00000284376	protein_coding	getma.org/?cm=var&var=hg19,1,52823356,C,A&fts=all		hmmpanther:PTHR13076:SF5,hmmpanther:PTHR13076,SMART_domains:SM00685		A/S		A	medium	1751/5638		getma.org/?cm=msa&ty=f&p=C2D1B_HUMAN&rb=401&re=600&var=A538S	tolerated(0.08)				YES	CC2D1B,missense_variant,p.Ala538Ser,ENST00000371586,NM_032449.2;CC2D1B,missense_variant,p.Ala532Ser,ENST00000284376,;CC2D1B,missense_variant,p.Ala319Ser,ENST00000438021,;CC2D1B,missense_variant,p.Ala352Ser,ENST00000450942,;CC2D1B,5_prime_UTR_variant,,ENST00000438831,;RP11-155O18.6,downstream_gene_variant,,ENST00000606527,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000460261,;CC2D1B,upstream_gene_variant,,ENST00000470844,;CC2D1B,upstream_gene_variant,,ENST00000494789,;CC2D1B,non_coding_transcript_exon_variant,,ENST00000491136,;CC2D1B,upstream_gene_variant,,ENST00000460370,;CC2D1B,upstream_gene_variant,,ENST00000485966,;CC2D1B,upstream_gene_variant,,ENST00000492426,;							MODERATE	1612/2577	A538S	C2D1B_HUMAN			Transcript		benign(0.04)	.	ENSP00000360642		CCDS30714.1			1	
MEGF8	0	LGGM	GRCh37	19	42862314	42862314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	4	2	.	.	ENST00000334370.4:c.4829C>A	p.Ala1610Asp	p.A1610D	ENST00000334370	NM_001410.2	1610	gCt/gAt	0	1		UPI00005788D1	0	NA	ENST00000251268		ENSG00000105429	3233		6	2.46		HGNC	p.A1610D		MEGF8		SNV			1				ENST00000334370	protein_coding	getma.org/?cm=var&var=hg19,19,42862314,C,A&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF241		A/D		A	medium	5030/9549		getma.org/?cm=msa&ty=f&p=MEGF8_HUMAN&rb=1565&re=1764&var=A1677D	deleterious(0)					MEGF8,missense_variant,p.Ala1610Asp,ENST00000334370,NM_001410.2,NM_001271938.1;MEGF8,missense_variant,p.Ala1677Asp,ENST00000251268,;MEGF8,upstream_gene_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000593840,;							MODERATE	5030/8538	A1677D	MEGF8_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000251268		CCDS62693.1			1	
CCDC74A	0	LGGM	GRCh37	2	132288131	132288131	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	5	2	.	.	ENST00000295171.6:c.296-21C>A		*99*	ENST00000295171	NM_138770.2			0	1	1	UPI000006E43A	0		ENST00000295171		ENSG00000163040	25197		7			HGNC	p.P194H		CCDC74A		SNV							ENST00000467992	protein_coding							A		-/1543							YES	CCDC74A,missense_variant,p.Pro194His,ENST00000467992,;CCDC74A,intron_variant,,ENST00000295171,NM_138770.2,NM_001258305.1,NM_001258304.1;CCDC74A,intron_variant,,ENST00000409856,NM_001258306.1;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,intron_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;							MODIFIER	-/1137		CC74A_HUMAN			Transcript			.	ENSP00000295171		CCDS2167.1			1	
GRIN3A	0	LGGM	GRCh37	9	104499915	104499915	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	3	2	.	.	ENST00000361820.3:c.347G>A	p.Gly116Asp	p.G116D	ENST00000361820	NM_133445.2	116	gGc/gAc	0	1	1	UPI0000367661	0	NA	ENST00000361820		ENSG00000198785	16767		5	0.69		HGNC	p.G116D		GRIN3A		SNV							ENST00000361820	protein_coding	getma.org/?cm=var&var=hg19,9,104499915,C,T&fts=all				G/D		T	neutral	948/7770		getma.org/?cm=msa&ty=f&p=NMD3A_HUMAN&rb=1&re=200&var=G116D	tolerated_low_confidence(0.6)				YES	GRIN3A,missense_variant,p.Gly116Asp,ENST00000361820,NM_133445.2;							MODERATE	347/3348	G116D	NMD3A_HUMAN			Transcript		benign(0.004)	.	ENSP00000355155		CCDS6758.1			1	
PSEN2	0	LGGM	GRCh37	1	227083126	227083126	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	9	2	.	.	ENST00000366783.3:c.1193G>C	p.Gly398Ala	p.G398A	ENST00000366783	NM_000447.2	398	gGc/gCc	0	1	1	UPI0000049EDA	0	getma.org/pdb.php?prot=PSN2_HUMAN&from=308&to=439&var=G398A	ENST00000366783		ENSG00000143801	9509		11	3.06		HGNC	p.G398A		PSEN2		SNV			1				ENST00000366783	protein_coding	getma.org/?cm=var&var=hg19,1,227083126,G,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF11,Pfam_domain:PF01080,SMART_domains:SM00730		G/A		C	medium	1629/2302		getma.org/?cm=msa&ty=f&p=PSN2_HUMAN&rb=308&re=439&var=G398A	deleterious(0.01)	E5RJM5_HUMAN,E5RHT1_HUMAN,E5RG63_HUMAN,E5RFW4_HUMAN,B4DVM3_HUMAN			YES	PSEN2,missense_variant,p.Gly431Ala,ENST00000366782,;PSEN2,missense_variant,p.Gly398Ala,ENST00000366783,NM_000447.2,NM_012486.2;PSEN2,missense_variant,p.Gly365Ala,ENST00000340188,;PSEN2,missense_variant,p.Gly431Ala,ENST00000391872,;PSEN2,missense_variant,p.Gly397Ala,ENST00000422240,;PSEN2,missense_variant,p.Gly254Ala,ENST00000472139,;ADCK3,upstream_gene_variant,,ENST00000366779,;PSEN2,downstream_gene_variant,,ENST00000460775,;PSEN2,splice_region_variant,,ENST00000471728,;PSEN2,downstream_gene_variant,,ENST00000487450,;ADCK3,upstream_gene_variant,,ENST00000485677,;PSEN2,splice_region_variant,,ENST00000496965,;							MODERATE	1193/1347	G398A	PSN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355747		CCDS1556.1			1	
GSC2	0	LGGM	GRCh37	22	19136557	19136557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	6	2	.	.	ENST00000086933.2:c.565G>T	p.Ala189Ser	p.A189S	ENST00000086933	NM_005315.1	189	Gct/Tct	0	1	1	UPI000012BBA2	0	getma.org/pdb.php?prot=GSC2_HUMAN&from=184&to=205&var=A189S	ENST00000086933		ENSG00000063515	4613		8	0.46		HGNC	p.A189S		GSC2		SNV							ENST00000086933	protein_coding	getma.org/?cm=var&var=hg19,22,19136557,C,A&fts=all		hmmpanther:PTHR24329:SF293,hmmpanther:PTHR24329		A/S		A	neutral	565/1033		getma.org/?cm=msa&ty=f&p=GSC2_HUMAN&rb=154&re=205&var=A189S	deleterious(0.04)				YES	GSC2,missense_variant,p.Ala189Ser,ENST00000086933,NM_005315.1;DGCR14,upstream_gene_variant,,ENST00000252137,NM_022719.2;DGCR14,upstream_gene_variant,,ENST00000472073,;DGCR14,upstream_gene_variant,,ENST00000434568,;DGCR14,upstream_gene_variant,,ENST00000469466,;							MODERATE	565/618	A189S	GSC2_HUMAN			Transcript		benign(0.018)	.	ENSP00000086933		CCDS13757.1			1	
CHD5	0	LGGM	GRCh37	1	6188121	6188121	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	5	2	.	.	ENST00000262450.3:c.3888C>T	p.Arg1296=	p.R1296=	ENST00000262450	NM_015557.2	1296	cgC/cgT	0	1	1	UPI000006CD03	0		ENST00000262450		ENSG00000116254	16816		7			HGNC	p.R1296R		CHD5		SNV							ENST00000262450	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583		R		A		3988/9646							YES	CHD5,synonymous_variant,p.=,ENST00000262450,NM_015557.2;CHD5,synonymous_variant,p.=,ENST00000378021,;CHD5,synonymous_variant,p.=,ENST00000462991,;CHD5,synonymous_variant,p.=,ENST00000491020,;CHD5,3_prime_UTR_variant,,ENST00000377999,;CHD5,intron_variant,,ENST00000496404,;							LOW	3888/5865		CHD5_HUMAN			Transcript			.	ENSP00000262450		CCDS57.1			1	
ERN1	0	LGGM	GRCh37	17	62133184	62133184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	5	2	.	.	ENST00000433197.3:c.1523G>T	p.Gly508Val	p.G508V	ENST00000433197	NM_001433.3	508	gGc/gTc	0	1	1	UPI0000201263	0	NA	ENST00000433197		ENSG00000178607	3449		7	1.1		HGNC	p.G508V		ERN1		SNV							ENST00000433197	protein_coding	getma.org/?cm=var&var=hg19,17,62133184,C,A&fts=all		hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954		G/V		A	low	1619/7876		getma.org/?cm=msa&ty=f&p=ERN1_HUMAN&rb=4&re=540&var=G508V	tolerated(0.12)				YES	ERN1,missense_variant,p.Gly508Val,ENST00000433197,NM_001433.3;ERN1,downstream_gene_variant,,ENST00000583896,;ERN1,upstream_gene_variant,,ENST00000583077,;							MODERATE	1523/2934	G508V	ERN1_HUMAN			Transcript		benign(0.024)	.	ENSP00000401445		CCDS45762.1			1	
PTPRU	0	LGGM	GRCh37	1	29633653	29633653	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	11	2	.	.	ENST00000345512.3:c.2850+1713C>A		*950*	ENST00000345512	NM_005704.4			0	1	1	UPI000013C57E	0		ENST00000345512		ENSG00000060656	9683		13			HGNC	p.R945R		PTPRU		SNV							ENST00000356870	protein_coding							A		-/4470				B3KT29_HUMAN			YES	PTPRU,synonymous_variant,p.=,ENST00000356870,NM_133177.3;PTPRU,synonymous_variant,p.=,ENST00000460170,;PTPRU,intron_variant,,ENST00000323874,;PTPRU,intron_variant,,ENST00000373779,NM_133178.3,NM_001195001.1;PTPRU,intron_variant,,ENST00000428026,;PTPRU,intron_variant,,ENST00000345512,NM_005704.4;PTPRU,intron_variant,,ENST00000415600,;PTPRU,downstream_gene_variant,,ENST00000531385,;PTPRU,upstream_gene_variant,,ENST00000526080,;							MODIFIER	-/4341		PTPRU_HUMAN			Transcript			.	ENSP00000334941		CCDS334.1			1	
SLC28A3	0	LGGM	GRCh37	9	86900916	86900916	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	14	2	.	.	ENST00000376238.4:c.1391T>G	p.Met464Arg	p.M464R	ENST00000376238	NM_001199633.1	464	aTg/aGg	0	1	1	UPI000006F5A6	0	getma.org/pdb.php?prot=S28A3_HUMAN&from=388&to=613&var=M464R	ENST00000376238		ENSG00000197506	16484		16	1.04		HGNC	p.M464R		SLC28A3		SNV							ENST00000376238	protein_coding	getma.org/?cm=var&var=hg19,9,86900916,A,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590,Pfam_domain:PF07662,TIGRFAM_domain:TIGR00804		M/R		C	low	1441/4887		getma.org/?cm=msa&ty=f&p=S28A3_HUMAN&rb=388&re=613&var=M464R	deleterious(0.01)	F5GYE3_HUMAN			YES	SLC28A3,missense_variant,p.Met464Arg,ENST00000376238,NM_001199633.1,NM_022127.2;SLC28A3,missense_variant,p.Met395Arg,ENST00000537648,;RP11-380F14.2,intron_variant,,ENST00000419815,;							MODERATE	1391/2076	M464R	S28A3_HUMAN			Transcript		benign(0.158)	.	ENSP00000365413		CCDS6670.1			1	
EPG5	0	LGGM	GRCh37	18	43502568	43502568	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	23	3	.	.	ENST00000282041.5:c.2839-2A>T		p.X947_splice	ENST00000282041	NM_020964.2			0	1	1	UPI00004F6F8A	0		ENST00000282041		ENSG00000152223	29331		26			HGNC	-		EPG5		SNV			1				ENST00000282041	protein_coding							A		-/12633				Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,splice_acceptor_variant,,ENST00000282041,NM_020964.2;EPG5,upstream_gene_variant,,ENST00000585906,;EPG5,splice_acceptor_variant,,ENST00000587974,;							HIGH	2839/7740		EPG5_HUMAN			Transcript			.	ENSP00000282041		CCDS11926.2			1	
CAPN14	0	LGGM	GRCh37	2	31416161	31416161	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	21	3	.	.	ENST00000403897.3:c.951-1G>T		p.X317_splice	ENST00000403897	NM_001145122.1			0	1	1	UPI000173A463	0		ENST00000403897		ENSG00000214711	16664		24			HGNC	-		CAPN14		SNV							ENST00000444918	protein_coding							A		-/2197				D6W573_HUMAN			YES	CAPN14,splice_acceptor_variant,,ENST00000444918,;CAPN14,splice_acceptor_variant,,ENST00000403897,NM_001145122.1;CAPN14,splice_acceptor_variant,,ENST00000398824,;							HIGH	951/2055		CAN14_HUMAN			Transcript			.	ENSP00000385247		CCDS46254.1			1	
CBL	0	LGGM	GRCh37	11	119169083	119169083	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	31	3	.	.	ENST00000264033.4:c.2267C>T	p.Ala756Val	p.A756V	ENST00000264033	NM_005188.3	756	gCc/gTc	0	1	1	UPI000013D4A7	0	NA	ENST00000264033		ENSG00000110395	1541		34	0.805		HGNC	p.A756V		CBL		SNV			1				ENST00000264033	protein_coding	getma.org/?cm=var&var=hg19,11,119169083,C,T&fts=all		hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5		A/V		T	low	2643/11465		getma.org/?cm=msa&ty=f&p=CBL_HUMAN&rb=620&re=819&var=A756V	tolerated_low_confidence(0.26)				YES	CBL,missense_variant,p.Ala756Val,ENST00000264033,NM_005188.3;							MODERATE	2267/2721	A756V	CBL_HUMAN			Transcript		benign(0.001)	.	ENSP00000264033		CCDS8418.1			1	
OBSCN	0	LGGM	GRCh37	1	228528797	228528797	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	9	3	.	.	ENST00000570156.2:c.20570G>A	p.Gly6857Asp	p.G6857D	ENST00000570156	NM_001271223.2	6857	gGc/gAc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=5895&to=6004&var=G5900D	ENST00000422127		ENSG00000154358	15719		12	1.07		HGNC	p.G6612D		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228528797,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		G/D		A	low	17743/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=5895&re=6004&var=G5900D						OBSCN,missense_variant,p.Gly6857Asp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Gly3534Asp,ENST00000366707,;OBSCN,missense_variant,p.Gly5900Asp,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Gly5900Asp,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Gly3019Asp,ENST00000366709,;OBSCN,missense_variant,p.Gly517Asp,ENST00000441106,;							MODERATE	17699/23907	G5900D	OBSCN_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000409493		CCDS58065.1			1	
PGBD5	0	LGGM	GRCh37	1	230503699	230503699	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	6	3	.	.	ENST00000525115.1:c.124+9545G>T		*42*	ENST00000525115				0	1	1	UPI0001D34147	0		ENST00000525115		ENSG00000177614	19405		9			HGNC	p.G106C		PGBD5		SNV							ENST00000321327	protein_coding							A		-/1569							YES	PGBD5,missense_variant,p.Gly106Cys,ENST00000321327,;PGBD5,intron_variant,,ENST00000391860,NM_001258311.1;PGBD5,intron_variant,,ENST00000525115,;							MODIFIER	-/1368		PGBD5_HUMAN			Transcript			.	ENSP00000431404					1	
NUTM2G	0	LGGM	GRCh37	9	99700753	99700753	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	35	3	.	.	ENST00000372322.3:c.1548C>A	p.Gly516=	p.G516=	ENST00000372322	NM_001170741.1	516	ggC/ggA	0	1	1	UPI000175026B	0		ENST00000372322		ENSG00000188152	23449		38			HGNC	p.G516G		NUTM2G		SNV							ENST00000372322	protein_coding			hmmpanther:PTHR22879:SF12,hmmpanther:PTHR22879		G		A		1569/2516							YES	NUTM2G,synonymous_variant,p.=,ENST00000372322,NM_001170741.1;NUTM2G,intron_variant,,ENST00000354649,NM_001045477.2;HIATL2,intron_variant,,ENST00000506067,;							LOW	1548/2226		NTM2G_HUMAN			Transcript			.	ENSP00000361397		CCDS55329.1			1	
AKAP12	0	LGGM	GRCh37	6	151627021	151627021	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	13	3	.	.	ENST00000402676.2:c.302A>T	p.Glu101Val	p.E101V	ENST00000402676	NM_005100.3	101	gAa/gTa	0	1		UPI000013CDC7	0	NA	ENST00000253332		ENSG00000131016	370		16	1.67		HGNC	p.E101V		AKAP12		SNV							ENST00000253332	protein_coding	getma.org/?cm=var&var=hg19,6,151627021,A,T&fts=all		hmmpanther:PTHR23209		E/V		T	low	491/6597		getma.org/?cm=msa&ty=f&p=AKA12_HUMAN&rb=1&re=200&var=E101V	deleterious(0.02)					AKAP12,missense_variant,p.Glu101Val,ENST00000402676,NM_005100.3;AKAP12,missense_variant,p.Glu101Val,ENST00000253332,;							MODERATE	302/5349	E101V	AKA12_HUMAN			Transcript		benign(0.005)	.	ENSP00000253332		CCDS5229.1			1	
UTRN	0	LGGM	GRCh37	6	144898323	144898323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	24	3	.	.	ENST00000367545.3:c.7378C>A	p.Gln2460Lys	p.Q2460K	ENST00000367545	NM_007124.2	2460	Caa/Aaa	0	1	1	UPI00003673F1	0	NA	ENST00000367545		ENSG00000152818	12635		27	1.59		HGNC	p.Q2460K		UTRN		SNV							ENST00000367545	protein_coding	getma.org/?cm=var&var=hg19,6,144898323,C,A&fts=all		hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341		Q/K		A	low	7378/12339		getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=2443&re=2556&var=Q2460K	tolerated(0.17)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,missense_variant,p.Gln2460Lys,ENST00000367545,NM_007124.2;							MODERATE	7378/10302	Q2460K	UTRO_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000356515		CCDS34547.1			1	
LOXL4	0	LGGM	GRCh37	10	100017912	100017912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	10	3	.	.	ENST00000260702.3:c.931G>T	p.Val311Leu	p.V311L	ENST00000260702	NM_032211.6	311	Gtg/Ttg	0	1	1	UPI0000046706	0	getma.org/pdb.php?prot=LOXL4_HUMAN&from=311&to=411&var=V311L	ENST00000260702		ENSG00000138131	17171		13	1.265		HGNC	p.V311L		LOXL4		SNV							ENST00000260702	protein_coding	getma.org/?cm=var&var=hg19,10,100017912,C,A&fts=all		Gene3D:3.10.250.10,Prints_domain:PR00258,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77,SMART_domains:SM00202,Superfamily_domains:SSF56487		V/L		A	low	1082/3653		getma.org/?cm=msa&ty=f&p=LOXL4_HUMAN&rb=311&re=411&var=V311L	tolerated(0.05)				YES	LOXL4,missense_variant,p.Val311Leu,ENST00000260702,NM_032211.6;RP11-34A14.3,downstream_gene_variant,,ENST00000433374,;							MODERATE	931/2271	V311L	LOXL4_HUMAN			Transcript		benign(0.03)	.	ENSP00000260702		CCDS7473.1			1	
NID1	0	LGGM	GRCh37	1	236141237	236141237	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	33	3	.	.	ENST00000264187.6:c.3674C>T	p.Ala1225Val	p.A1225V	ENST00000264187	NM_002508.2	1225	gCc/gTc	0	1	1	UPI000013D4D9	0	getma.org/pdb.php?prot=NID1_HUMAN&from=1208&to=1244&var=A1225V	ENST00000264187		ENSG00000116962	7821		36	1.97		HGNC	p.A1225V		NID1		SNV							ENST00000264187	protein_coding	getma.org/?cm=var&var=hg19,1,236141237,G,A&fts=all		hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,Pfam_domain:PF14670,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57184		A/V		A	medium	3757/5864		getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=1208&re=1244&var=A1225V	deleterious(0.01)				YES	NID1,missense_variant,p.Ala1225Val,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Ala1092Val,ENST00000366595,;							MODERATE	3674/3744	A1225V	NID1_HUMAN			Transcript		benign(0.288)	.	ENSP00000264187		CCDS1608.1			1	
SIRT3	0	LGGM	GRCh37	11	233396	233396	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	36	3	.	.	ENST00000382743.4:c.420G>T	p.Val140=	p.V140=	ENST00000382743	NM_012239.5	140	gtG/gtT	0	1	1	UPI0000073D3C	0		ENST00000382743		ENSG00000142082	14931		39			HGNC	p.V140V		SIRT3		SNV							ENST00000382743	protein_coding			PROSITE_profiles:PS50305,hmmpanther:PTHR11085:SF14,hmmpanther:PTHR11085,Gene3D:3.40.50.1220,PIRSF_domain:PIRSF037938,Superfamily_domains:SSF52467		V		A		523/2543				E9PNA0_HUMAN,E9PM52_HUMAN			YES	SIRT3,synonymous_variant,p.=,ENST00000382743,NM_012239.5,NM_001017524.2;SIRT3,synonymous_variant,p.=,ENST00000525319,;SIRT3,synonymous_variant,p.=,ENST00000532956,;SIRT3,5_prime_UTR_variant,,ENST00000529382,;SIRT3,5_prime_UTR_variant,,ENST00000528469,;SIRT3,5_prime_UTR_variant,,ENST00000525237,;SIRT3,5_prime_UTR_variant,,ENST00000525776,;SIRT3,intron_variant,,ENST00000524564,;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,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,;							LOW	420/1200		SIR3_HUMAN			Transcript			.	ENSP00000372191		CCDS7691.1			1	
RSAD1	0	LGGM	GRCh37	17	48556992	48556992	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	14	3	.	.	ENST00000258955.2:c.138G>A	p.Trp46Ter	p.W46*	ENST00000258955	NM_018346.1	46	tgG/tgA	0	1	1	UPI0000070E2E	0	NA	ENST00000258955		ENSG00000136444	25634		17	0		HGNC	p.W46X		RSAD1		SNV							ENST00000258955	protein_coding	getma.org/?cm=var&var=hg19,17,48556992,G,A&fts=all		hmmpanther:PTHR13932:SF5,hmmpanther:PTHR13932,TIGRFAM_domain:TIGR00539,Gene3D:2qgqB01,Pfam_domain:PF04055,SMART_domains:SM00729,Superfamily_domains:SSF102114		W/*		A	NA	223/2528		NA		K7EKD3_HUMAN			YES	RSAD1,stop_gained,p.Trp46Ter,ENST00000258955,NM_018346.1;RSAD1,splice_region_variant,,ENST00000510554,;ACSF2,downstream_gene_variant,,ENST00000427954,;ACSF2,downstream_gene_variant,,ENST00000300441,NM_025149.4;ACSF2,downstream_gene_variant,,ENST00000502667,;ACSF2,downstream_gene_variant,,ENST00000504392,;ACSF2,downstream_gene_variant,,ENST00000541920,;ACSF2,downstream_gene_variant,,ENST00000506085,;RSAD1,stop_gained,p.Trp40Ter,ENST00000504284,;RSAD1,splice_region_variant,,ENST00000443328,;RSAD1,intron_variant,,ENST00000515221,;ACSF2,downstream_gene_variant,,ENST00000510410,;RSAD1,upstream_gene_variant,,ENST00000506211,;ACSF2,downstream_gene_variant,,ENST00000507792,;RSAD1,upstream_gene_variant,,ENST00000513650,;RSAD1,upstream_gene_variant,,ENST00000509398,;							HIGH	138/1329	W46*	RSAD1_HUMAN			Transcript			.	ENSP00000258955		CCDS11569.1			1	
IGKV2D-28	0	LGGM	GRCh37	2	89999541	89999541	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	31	3	.	.	ENST00000453166.2:c.343C>A	p.Gln115Lys	p.Q115K	ENST00000453166		115	Caa/Aaa	0	1	1	UPI00005FFCB1	0		ENST00000453166		ENSG00000242534	5799		34			HGNC	p.Q95K		IGKV2D-28		SNV							ENST00000558026	IG_V_gene			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF155,SMART_domains:SM00406,Superfamily_domains:SSF48726		Q/K		A		379/396			deleterious(0)				YES	IGKV2D-28,missense_variant,p.Gln115Lys,ENST00000453166,;IGKV2D-28,missense_variant,p.Gln95Lys,ENST00000558026,;							MODERATE	343/360					Transcript		benign(0.293)	.	ENSP00000393492					1	
DYNC1H1	0	LGGM	GRCh37	14	102493762	102493762	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	78	4	.	.	ENST00000360184.4:c.8929C>A	p.Arg2977=	p.R2977=	ENST00000360184	NM_001376.4	2977	Cgg/Agg	0	1	1	UPI00001B515A	0		ENST00000360184		ENSG00000197102	2961		82			HGNC	p.R2977R		DYNC1H1		SNV			1				ENST00000360184	protein_coding			hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12780,SMART_domains:SM00382,Superfamily_domains:SSF52540		R		A		9093/14333				Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,synonymous_variant,p.=,ENST00000360184,NM_001376.4;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555204,;DYNC1H1,upstream_gene_variant,,ENST00000554854,;							LOW	8929/13941		DYHC1_HUMAN			Transcript			.	ENSP00000348965		CCDS9966.1			1	
TRIM28	0	LGGM	GRCh37	19	59061333	59061333	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	21	4	.	.	ENST00000253024.5:c.2124G>A	p.Leu708=	p.L708=	ENST00000253024	NM_005762.2	708	ctG/ctA	0	1	1	UPI0000136C15	0		ENST00000253024		ENSG00000130726	16384		25			HGNC	p.L333L		TRIM28		SNV							ENST00000597136	protein_coding			Gene3D:1.20.920.10,SMART_domains:SM00297		L		A		2413/2960				M0R3C0_HUMAN,M0QZE6_HUMAN			YES	TRIM28,synonymous_variant,p.=,ENST00000253024,NM_005762.2;TRIM28,synonymous_variant,p.=,ENST00000341753,;TRIM28,synonymous_variant,p.=,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000600118,;CHMP2A,downstream_gene_variant,,ENST00000312547,NM_014453.2;CHMP2A,downstream_gene_variant,,ENST00000601220,NM_198426.1;TRIM28,downstream_gene_variant,,ENST00000594806,;CHMP2A,downstream_gene_variant,,ENST00000600006,;CHMP2A,downstream_gene_variant,,ENST00000596708,;TRIM28,downstream_gene_variant,,ENST00000593582,;CHMP2A,downstream_gene_variant,,ENST00000597848,;TRIM28,downstream_gene_variant,,ENST00000597968,;TRIM28,non_coding_transcript_exon_variant,,ENST00000598355,;TRIM28,non_coding_transcript_exon_variant,,ENST00000595974,;TRIM28,non_coding_transcript_exon_variant,,ENST00000600840,;TRIM28,downstream_gene_variant,,ENST00000601150,;TRIM28,downstream_gene_variant,,ENST00000597423,;TRIM28,downstream_gene_variant,,ENST00000597995,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,downstream_gene_variant,,ENST00000597618,;CHMP2A,downstream_gene_variant,,ENST00000600804,;TRIM28,downstream_gene_variant,,ENST00000597172,;TRIM28,downstream_gene_variant,,ENST00000595028,;							LOW	2124/2508		TIF1B_HUMAN			Transcript			.	ENSP00000253024		CCDS12985.1			1	
WDR73	0	LGGM	GRCh37	15	85189016	85189016	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	19	4	.	.	ENST00000434634.2:c.569C>T	p.Thr190Ile	p.T190I	ENST00000434634	NM_032856.2	190	aCc/aTc	0	1	1	UPI000004A084	0	getma.org/pdb.php?prot=WDR73_HUMAN&from=1&to=376&var=T190I	ENST00000434634		ENSG00000177082	25928		23	1.955		HGNC	p.T190I		WDR73		SNV			1				ENST00000434634	protein_coding	getma.org/?cm=var&var=hg19,15,85189016,G,A&fts=all		hmmpanther:PTHR22850:SF99,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		T/I		A	medium	630/1900		getma.org/?cm=msa&ty=f&p=WDR73_HUMAN&rb=1&re=376&var=T190I	deleterious(0.03)				YES	WDR73,missense_variant,p.Thr190Ile,ENST00000434634,NM_032856.2;WDR73,non_coding_transcript_exon_variant,,ENST00000398528,;SCAND2P,downstream_gene_variant,,ENST00000348993,;WDR73,downstream_gene_variant,,ENST00000560835,;WDR73,downstream_gene_variant,,ENST00000561447,;WDR73,3_prime_UTR_variant,,ENST00000558521,;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,downstream_gene_variant,,ENST00000560252,;WDR73,downstream_gene_variant,,ENST00000559178,;WDR73,downstream_gene_variant,,ENST00000558487,;WDR73,downstream_gene_variant,,ENST00000559877,;WDR73,downstream_gene_variant,,ENST00000560182,;WDR73,downstream_gene_variant,,ENST00000558019,;WDR73,downstream_gene_variant,,ENST00000560088,;SCAND2P,downstream_gene_variant,,ENST00000541103,;							MODERATE	569/1137	T190I	WDR73_HUMAN			Transcript		benign(0.191)	.	ENSP00000387982		CCDS45339.1			1	
EPHA2	0	LGGM	GRCh37	1	16460075	16460075	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	10	4	.	.	ENST00000358432.5:c.1765G>A	p.Val589Met	p.V589M	ENST00000358432	NM_004431.3	589	Gtg/Atg	0	1	1	UPI00000731AB	0	getma.org/pdb.php?prot=EPHA2_HUMAN&from=520&to=612&var=V589M	ENST00000358432		ENSG00000142627	3386		14	2.74		HGNC	p.V589M	rs780312721	EPHA2	0.000545	SNV			1				ENST00000358432	protein_coding	getma.org/?cm=var&var=hg19,1,16460075,C,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF14575,PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF306		V/M		T	medium	1920/3964		getma.org/?cm=msa&ty=f&p=EPHA2_HUMAN&rb=520&re=612&var=V589M	deleterious(0)	Q96HF4_HUMAN,Q8IZL0_HUMAN			YES	EPHA2,missense_variant,p.Val589Met,ENST00000358432,NM_004431.3;EPHA2,downstream_gene_variant,,ENST00000480202,;EPHA2,upstream_gene_variant,,ENST00000462805,;							MODERATE	1765/2931	V589M	EPHA2_HUMAN			Transcript		probably_damaging(0.981)	common_variant	ENSP00000351209	7.41E-05	CCDS169.1			1	
RFX2	0	LGGM	GRCh37	19	6042136	6042136	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	20	5	.	.	ENST00000303657.5:c.181-2A>G		p.X61_splice	ENST00000303657	NM_000635.3			0	1	1	UPI000013D4B1	0		ENST00000303657		ENSG00000087903	9983		25			HGNC	-		RFX2		SNV							ENST00000303657	protein_coding							C		-/3993				Q75MR3_HUMAN,K7ES56_HUMAN,K7EQY9_HUMAN,K7EQA0_HUMAN,K7ENC9_HUMAN,K7EJE4_HUMAN,K7EJD4_HUMAN,K7EIN5_HUMAN			YES	RFX2,splice_acceptor_variant,,ENST00000303657,NM_000635.3;RFX2,splice_acceptor_variant,,ENST00000359161,;RFX2,splice_acceptor_variant,,ENST00000592546,NM_134433.2;RFX2,splice_acceptor_variant,,ENST00000592883,;RFX2,splice_acceptor_variant,,ENST00000592473,;RFX2,splice_acceptor_variant,,ENST00000586302,;RFX2,splice_acceptor_variant,,ENST00000593241,;RFX2,splice_acceptor_variant,,ENST00000587181,;RFX2,splice_acceptor_variant,,ENST00000592281,;RFX2,intron_variant,,ENST00000589742,;RFX2,intron_variant,,ENST00000586806,;RFX2,intron_variant,,ENST00000587321,;RFX2,splice_acceptor_variant,,ENST00000586940,;RFX2,intron_variant,,ENST00000592172,;							HIGH	181/2172		RFX2_HUMAN			Transcript			.	ENSP00000306335		CCDS12157.1			1	
CFH	0	LGGM	GRCh37	1	196694383	196694383	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	28	5	.	.	ENST00000367429.4:c.1829A>C	p.Gln610Pro	p.Q610P	ENST00000367429	NM_000186.3	610	cAg/cCg	0	1	1	UPI000013C4D1	0	getma.org/pdb.php?prot=CFAH_HUMAN&from=569&to=623&var=Q610P	ENST00000367429		ENSG00000000971	4883		33	2.505		HGNC	p.Q610P		CFH		SNV			1				ENST00000367429	protein_coding	getma.org/?cm=var&var=hg19,1,196694383,A,C&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,SMART_domains:SM00032,Superfamily_domains:SSF57535		Q/P		C	medium	2069/4127		getma.org/?cm=msa&ty=f&p=CFAH_HUMAN&rb=569&re=623&var=Q610P	deleterious(0)				YES	CFH,missense_variant,p.Gln610Pro,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;							MODERATE	1829/3696	Q610P	CFAH_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356399		CCDS1385.1			1	
PPP1R13B	0	LGGM	GRCh37	14	104209060	104209060	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	31	5	.	.	ENST00000202556.9:c.1251G>A	p.Gly417=	p.G417=	ENST00000202556	NM_015316.2	417	ggG/ggA	0	1	1	UPI000049DDC7	0		ENST00000202556		ENSG00000088808	14950		36			HGNC	p.G417G	rs376270310	PPP1R13B		SNV	T:0						ENST00000202556	protein_coding			hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5		G	T:0.0002	T		1534/4958	1.50E-05			G3V5J1_HUMAN			YES	PPP1R13B,synonymous_variant,p.=,ENST00000202556,NM_015316.2;PPP1R13B,5_prime_UTR_variant,,ENST00000423488,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555391,;PPP1R13B,intron_variant,,ENST00000555991,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,downstream_gene_variant,,ENST00000555183,;PPP1R13B,downstream_gene_variant,,ENST00000555708,;PPP1R13B,synonymous_variant,p.=,ENST00000556597,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000557744,;PPP1R13B,upstream_gene_variant,,ENST00000556334,;PPP1R13B,upstream_gene_variant,,ENST00000554432,;PPP1R13B,upstream_gene_variant,,ENST00000557587,;							LOW	1251/3273		ASPP1_HUMAN			Transcript			.	ENSP00000202556	8.27E-06	CCDS41997.1			1	
EPS8	0	LGGM	GRCh37	12	15811066	15811066	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	20	5	.	.	ENST00000281172.5:c.1048C>T	p.Gln350Ter	p.Q350*	ENST00000281172	NM_004447.5	350	Cag/Tag	0	1	1	UPI000012A0BC	0	NA	ENST00000281172		ENSG00000151491	3420		25	0		HGNC	p.Q90X		EPS8		SNV			1				ENST00000540613	protein_coding	getma.org/?cm=var&var=hg19,12,15811066,G,A&fts=all		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21		Q/*		A	NA	1485/4061		NA		F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN			YES	EPS8,stop_gained,p.Gln350Ter,ENST00000281172,NM_004447.5;EPS8,stop_gained,p.Gln350Ter,ENST00000543523,;EPS8,stop_gained,p.Gln350Ter,ENST00000543612,;EPS8,stop_gained,p.Gln90Ter,ENST00000540613,;EPS8,stop_gained,p.Gln90Ter,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,3_prime_UTR_variant,,ENST00000546261,;EPS8,non_coding_transcript_exon_variant,,ENST00000535734,;EPS8,upstream_gene_variant,,ENST00000541465,;							HIGH	1048/2469	Q350*	EPS8_HUMAN			Transcript			.	ENSP00000281172		CCDS31753.1			1	
DSP	0	LGGM	GRCh37	6	7583400	7583400	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	26	5	.	.	ENST00000379802.3:c.5905G>C	p.Asp1969His	p.D1969H	ENST00000379802	NM_004415.2	1969	Gat/Cat	0	1	1	UPI000013C67F	0	getma.org/pdb.php?prot=DESP_HUMAN&from=1950&to=2045&var=D1969H	ENST00000379802		ENSG00000096696	3052		31	1.12		HGNC	p.D1969H		DSP		SNV			1				ENST00000379802	protein_coding	getma.org/?cm=var&var=hg19,6,7583400,G,C&fts=all		Superfamily_domains:SSF75399,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		D/H		C	low	6246/9796		getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=1950&re=2045&var=D1969H		G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,missense_variant,p.Asp1969His,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Asp1370His,ENST00000418664,NM_001008844.1;							MODERATE	5905/8616	D1969H	DESP_HUMAN			Transcript		benign(0.143)	.	ENSP00000369129		CCDS4501.1			1	
RBBP8NL	0	LGGM	GRCh37	20	60987775	60987775	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	25	5	.	.	ENST00000252998.1:c.1781G>A	p.Ser594Asn	p.S594N	ENST00000252998	NM_080833.2	594	aGc/aAc	0	1	1	UPI000013CDA2	0	NA	ENST00000252998		ENSG00000130701	16144		30	1.32		HGNC	p.S594N		RBBP8NL		SNV							ENST00000252998	protein_coding	getma.org/?cm=var&var=hg19,20,60987775,C,T&fts=all		hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1		S/N		T	low	1938/2793		getma.org/?cm=msa&ty=f&p=CT151_HUMAN&rb=124&re=610&var=S594N	tolerated(0.12)				YES	RBBP8NL,missense_variant,p.Ser594Asn,ENST00000252998,NM_080833.2;							MODERATE	1781/1995	S594N	RB8NL_HUMAN			Transcript		benign(0.138)	.	ENSP00000252998		CCDS13498.1			1	
ZBED2	0	LGGM	GRCh37	3	111312694	111312694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	20	5	.	.	ENST00000317012.4:c.355G>A	p.Gly119Arg	p.G119R	ENST00000317012	NM_024508.4	119	Ggg/Agg	0	1	1	UPI0000374509	0	NA	ENST00000317012		ENSG00000177494	20710		25	1.5		HGNC	p.G119R		ZBED2		SNV							ENST00000317012	protein_coding	getma.org/?cm=var&var=hg19,3,111312694,C,T&fts=all				G/R		T	low	1364/2311		getma.org/?cm=msa&ty=f&p=ZBED2_HUMAN&rb=108&re=218&var=G119R	tolerated(0.17)				YES	ZBED2,missense_variant,p.Gly119Arg,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,;							MODERATE	355/657	G119R	ZBED2_HUMAN			Transcript		benign(0.03)	.	ENSP00000321370		CCDS2960.2			1	
IGF1	0	LGGM	GRCh37	12	102869472	102869472	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	34	6	.	.	ENST00000307046.8:c.169G>T	p.Glu57Ter	p.E57*	ENST00000307046	NM_001111285.1	57	Gag/Tag	0	1	1	UPI0000115ED4	0	NA	ENST00000307046		ENSG00000017427	5464		40	0		HGNC	p.E41X		IGF1		SNV			1				ENST00000424202	protein_coding	getma.org/?cm=var&var=hg19,12,102869472,C,A&fts=all		hmmpanther:PTHR11454,hmmpanther:PTHR11454:SF4,Gene3D:1.10.100.10,Pfam_domain:PF00049,SMART_domains:SM00078,Superfamily_domains:SSF56994,Prints_domain:PR00276,Prints_domain:PR02002		E/*		A	NA	351/1097		NA		Q6LD41_HUMAN			YES	IGF1,stop_gained,p.Glu57Ter,ENST00000456098,NM_001111283.1;IGF1,stop_gained,p.Glu57Ter,ENST00000337514,NM_000618.3;IGF1,stop_gained,p.Glu57Ter,ENST00000307046,NM_001111285.1;IGF1,stop_gained,p.Glu57Ter,ENST00000392904,;IGF1,stop_gained,p.Glu41Ter,ENST00000424202,NM_001111284.1;IGF1,stop_gained,p.Glu38Ter,ENST00000392905,;							HIGH	169/588	E57*	IGF1_HUMAN			Transcript			.	ENSP00000302665		CCDS44962.1			1	
EZH2	0	LGGM	GRCh37	7	148514374	148514374	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	25	6	.	.	ENST00000320356.2:c.1350C>T	p.Gly450=	p.G450=	ENST00000320356	NM_004456.4	450	ggC/ggT	0	1		UPI000002E1D6	0		ENST00000460911		ENSG00000106462	3527		31			HGNC	p.G445G		EZH2		SNV			1				ENST00000460911	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,SMART_domains:SM00717		G		A		1424/2591				Q75MP9_HUMAN,Q6R125_HUMAN				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,downstream_gene_variant,,ENST00000536783,;RNU7-20P,upstream_gene_variant,,ENST00000515903,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000498186,;EZH2,downstream_gene_variant,,ENST00000483012,;							LOW	1335/2241		EZH2_HUMAN			Transcript			.	ENSP00000419711		CCDS56516.1			1	
LIPT1	0	LGGM	GRCh37	2	99779458	99779458	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	39	6	.	.	ENST00000393477.3:c.1038T>C	p.Asn346=	p.N346=	ENST00000393477	NM_145197.2	346	aaT/aaC	0	1		UPI000003B004	0		ENST00000393471		ENSG00000144182	29569		45			HGNC	p.N346N		LIPT1		SNV			1				ENST00000393477	protein_coding			hmmpanther:PTHR12561,hmmpanther:PTHR12561:SF2		N		C		1136/1289				C9JW10_HUMAN,C9JUU5_HUMAN,C9J7C5_HUMAN,C9J6A9_HUMAN				LIPT1,synonymous_variant,p.=,ENST00000393477,NM_145197.2;LIPT1,synonymous_variant,p.=,ENST00000393474,NM_145198.2;LIPT1,synonymous_variant,p.=,ENST00000393473,NM_015929.3,NM_001204830.1;LIPT1,synonymous_variant,p.=,ENST00000340066,;LIPT1,synonymous_variant,p.=,ENST00000393471,NM_145199.2;MITD1,intron_variant,,ENST00000422537,;MRPL30,intron_variant,,ENST00000410042,;LIPT1,downstream_gene_variant,,ENST00000434566,;LIPT1,downstream_gene_variant,,ENST00000415142,;LIPT1,downstream_gene_variant,,ENST00000436234,;LIPT1,downstream_gene_variant,,ENST00000449211,;MITD1,intron_variant,,ENST00000487588,;C2orf15,intron_variant,,ENST00000424491,;							LOW	1038/1122		LIPT_HUMAN			Transcript			.	ENSP00000377114		CCDS2039.1			1	
VPS13B	0	LGGM	GRCh37	8	100844811	100844811	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	67	6	.	.	ENST00000358544.2:c.9620G>A	p.Arg3207Lys	p.R3207K	ENST00000358544	NM_017890.4	3207	aGa/aAa	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		73	1.39		HGNC	p.R3182K		VPS13B		SNV			1				ENST00000357162	protein_coding	getma.org/?cm=var&var=hg19,8,100844811,G,A&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		R/K		A	low	9731/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=3131&re=3330&var=R3207K	tolerated(0.3)				YES	VPS13B,missense_variant,p.Arg3207Lys,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Arg3182Lys,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;							MODERATE	9620/12069	R3207K	VP13B_HUMAN			Transcript		benign(0)	.	ENSP00000351346		CCDS6280.1			1	
SYT13	0	LGGM	GRCh37	11	45268003	45268003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	23	7	.	.	ENST00000020926.3:c.907C>T	p.Arg303Cys	p.R303C	ENST00000020926	NM_020826.2	303	Cgc/Tgc	0	1	1	UPI000003AC01	0	getma.org/pdb.php?prot=SYT13_HUMAN&from=289&to=394&var=R303C	ENST00000020926		ENSG00000019505	14962	0.000173	30	3.04		HGNC	p.R303C	rs757281112	SYT13		SNV							ENST00000020926	protein_coding	getma.org/?cm=var&var=hg19,11,45268003,G,A&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF211,hmmpanther:PTHR10024,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		R/C		A	medium	1019/5144		getma.org/?cm=msa&ty=f&p=SYT13_HUMAN&rb=289&re=394&var=R303C	deleterious(0)				YES	SYT13,missense_variant,p.Arg303Cys,ENST00000020926,NM_020826.2,NM_001247987.1;SYT13,3_prime_UTR_variant,,ENST00000533332,;							MODERATE	907/1281	R303C	SYT13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000020926	1.65E-05	CCDS31470.1			1	
FBN1	0	LGGM	GRCh37	15	48719840	48719840	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	21	7	.	.	ENST00000316623.5:c.7128G>A	p.Glu2376=	p.E2376=	ENST00000316623	NM_000138.4	2376	gaG/gaA	0	1	1	UPI0000163B0B	0		ENST00000316623		ENSG00000166147	3603		28			HGNC	p.E2376E		FBN1		SNV			1				ENST00000316623	protein_coding			Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Superfamily_domains:SSF57581		E		T		7584/11756				Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,missense_variant,p.Arg833Lys,ENST00000559133,;FBN1,downstream_gene_variant,,ENST00000537463,;FBN1,downstream_gene_variant,,ENST00000560720,;							LOW	7128/8616		FBN1_HUMAN			Transcript			.	ENSP00000325527		CCDS32232.1			1	
KCNMA1	0	LGGM	GRCh37	10	78704718	78704718	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	27	8	.	.	ENST00000404857.1:c.2664G>A	p.Thr888=	p.T888=	ENST00000404857	NM_001161353.1	888	acG/acA	0	1		UPI00003519E7	0		ENST00000286628		ENSG00000156113	6284		35			HGNC	p.T784T		KCNMA1		SNV			1				ENST00000372408	protein_coding			hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF18,Gene3D:3.40.50.720		T		T		2715/6096				Q5SVK3_HUMAN				KCNMA1,synonymous_variant,p.=,ENST00000604624,NM_001271518.1,NM_001014797.2;KCNMA1,synonymous_variant,p.=,ENST00000286627,NM_002247.3,NM_001271519.1;KCNMA1,synonymous_variant,p.=,ENST00000286628,NM_001161352.1;KCNMA1,synonymous_variant,p.=,ENST00000372443,;KCNMA1,synonymous_variant,p.=,ENST00000372440,;KCNMA1,synonymous_variant,p.=,ENST00000404771,;KCNMA1,synonymous_variant,p.=,ENST00000457953,;KCNMA1,synonymous_variant,p.=,ENST00000372437,;KCNMA1,synonymous_variant,p.=,ENST00000372421,;KCNMA1,synonymous_variant,p.=,ENST00000406533,;KCNMA1,synonymous_variant,p.=,ENST00000354353,;KCNMA1,synonymous_variant,p.=,ENST00000404857,NM_001161353.1;KCNMA1,synonymous_variant,p.=,ENST00000372408,;KCNMA1,synonymous_variant,p.=,ENST00000372403,;KCNMA1,synonymous_variant,p.=,ENST00000434208,;RP11-443A13.5,intron_variant,,ENST00000600782,;RP11-443A13.5,intron_variant,,ENST00000598613,;RP11-443A13.5,intron_variant,,ENST00000458661,;RP11-443A13.5,intron_variant,,ENST00000426234,;RP11-443A13.5,intron_variant,,ENST00000608791,;							LOW	2715/3711		KCMA1_HUMAN			Transcript			.	ENSP00000286628		CCDS60569.1			1	
FAM90A1	0	LGGM	GRCh37	12	8375003	8375003	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	44	8	.	.	ENST00000538603.1:c.810C>T	p.Cys270=	p.C270=	ENST00000538603	NM_018088.3	270	tgC/tgT	0	1		UPI000013EC10	0		ENST00000307435		ENSG00000171847	25526		52			HGNC	p.C270C		FAM90A1		SNV							ENST00000307435	protein_coding			hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF8		C		A		1195/2342								FAM90A1,synonymous_variant,p.=,ENST00000538603,NM_018088.3;FAM90A1,synonymous_variant,p.=,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;							LOW	810/1395		F90A1_HUMAN			Transcript			.	ENSP00000307798		CCDS31738.1			1	
ZZZ3	0	LGGM	GRCh37	1	78034130	78034130	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	27	8	.	.	ENST00000370801.3:c.2353A>G	p.Met785Val	p.M785V	ENST00000370801	NM_015534.4	785	Atg/Gtg	0	1	1	UPI0000074256	0	NA	ENST00000370801		ENSG00000036549	24523		35	-0.69		HGNC	p.M785V		ZZZ3		SNV							ENST00000370801	protein_coding	getma.org/?cm=var&var=hg19,1,78034130,T,C&fts=all		hmmpanther:PTHR22705		M/V		C	neutral	2829/4328		getma.org/?cm=msa&ty=f&p=ZZZ3_HUMAN&rb=704&re=816&var=M785V	tolerated(0.21)	C9JUA4_HUMAN,C9J283_HUMAN			YES	ZZZ3,missense_variant,p.Met785Val,ENST00000370801,NM_015534.4;ZZZ3,missense_variant,p.Met291Val,ENST00000370798,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000476275,;ZZZ3,non_coding_transcript_exon_variant,,ENST00000481346,;							MODERATE	2353/2712	M785V	ZZZ3_HUMAN			Transcript		benign(0)	.	ENSP00000359837		CCDS677.1			1	
SOGA3	0	LGGM	GRCh37	6	127797494	127797494	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	45	9	.	.	ENST00000481848.2:c.1677G>C	p.Lys559Asn	p.K559N	ENST00000481848		559	aaG/aaC	0	1		UPI0000419273	0	NA	ENST00000481848		ENSG00000255330	21494		54	1.795		Uniprot_gn	p.K559N		SOGA3		SNV							ENST00000556132	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,6,127797494,C,G&fts=all		Pfam_domain:PF11365,hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2		K/N		G	low	2188/11464		getma.org/?cm=msa&ty=f&p=CF174_HUMAN&rb=520&re=616&var=K559N	deleterious(0)	A5PLQ8_HUMAN			YES	SOGA3,missense_variant,p.Lys559Asn,ENST00000556132,NM_001012279.2;SOGA3,missense_variant,p.Lys559Asn,ENST00000525778,;SOGA3,missense_variant,p.Lys559Asn,ENST00000465909,;SOGA3,missense_variant,p.Lys559Asn,ENST00000368268,;SOGA3,upstream_gene_variant,,ENST00000474293,;SOGA3,missense_variant,p.Lys559Asn,ENST00000481848,;SOGA3,upstream_gene_variant,,ENST00000473298,;SOGA3,upstream_gene_variant,,ENST00000464495,;							MODERATE	1677/2844	K559N				Transcript		probably_damaging(0.998)	.	ENSP00000455908		CCDS43505.1			1	
ATP11A	0	LGGM	GRCh37	13	113514643	113514643	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	59	9	.	.	ENST00000487903.1:c.2770T>G	p.Phe924Val	p.F924V	ENST00000487903		924	Ttc/Gtc	0	1		UPI00001FCB27	0	NA	ENST00000375645		ENSG00000068650	13552		68	3.975		HGNC	p.F924V		ATP11A		SNV			1				ENST00000375645	protein_coding	getma.org/?cm=var&var=hg19,13,113514643,T,G&fts=all		Superfamily_domains:0049473,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF33		F/V		G	high	2858/8795		getma.org/?cm=msa&ty=f&p=AT11A_HUMAN&rb=835&re=1034&var=F924V	deleterious(0)					ATP11A,missense_variant,p.Phe924Val,ENST00000487903,;ATP11A,missense_variant,p.Phe924Val,ENST00000375645,NM_015205.2;ATP11A,missense_variant,p.Phe924Val,ENST00000375630,NM_032189.3;ATP11A,missense_variant,p.Phe924Val,ENST00000283558,;ATP11A,missense_variant,p.Phe899Val,ENST00000418678,;ATP11A,downstream_gene_variant,,ENST00000489577,;ATP11A,non_coding_transcript_exon_variant,,ENST00000459908,;ATP11A,intron_variant,,ENST00000471555,;							MODERATE	2770/3405	F924V	AT11A_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000364796		CCDS32011.1			1	
ANGPT1	0	LGGM	GRCh37	8	108348392	108348392	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	70	9	.	.	ENST00000517746.1:c.561C>A	p.Ile187=	p.I187=	ENST00000517746	NM_001199859.1	187	atC/atA	0	1	1	UPI0000034766	0		ENST00000517746		ENSG00000154188	484		79			HGNC	p.I187I		ANGPT1		SNV							ENST00000297450	protein_coding			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156		I		T		1013/4311				E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN			YES	ANGPT1,synonymous_variant,p.=,ENST00000297450,;ANGPT1,synonymous_variant,p.=,ENST00000517746,NM_001199859.1,NM_001146.3;ANGPT1,5_prime_UTR_variant,,ENST00000520734,;ANGPT1,5_prime_UTR_variant,,ENST00000520052,;							LOW	561/1497		ANGP1_HUMAN			Transcript			.	ENSP00000428340		CCDS6306.1			1	
RAB40AL	0	LGGM	GRCh37	X	102192253	102192253	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	8	9	.	.	ENST00000218249.5:c.7G>A	p.Ala3Thr	p.A3T	ENST00000218249	NM_001031834.1	3	Gcc/Acc	0	1	1	UPI000013C751	0	NA	ENST00000218249		ENSG00000102128	25410		17	0.205		HGNC	p.A3T	rs750145091	RAB40AL		SNV			1				ENST00000218249	protein_coding	getma.org/?cm=var&var=hg19,X,102192253,G,A&fts=all				A/T		A	neutral	54/1029	6.56E-05	getma.org/?cm=msa&ty=f&p=RB40L_HUMAN&rb=1&re=45&var=A3T	tolerated(0.77)				YES	RAB40AL,missense_variant,p.Ala3Thr,ENST00000218249,NM_001031834.1;LL0XNC01-237H1.3,downstream_gene_variant,,ENST00000413528,;							MODERATE	7/837	A3T	RB40L_HUMAN	0.00112		Transcript		benign(0.004)	common_variant	ENSP00000218249	9.89E-05	CCDS35353.1			1	
PLCL1	0	LGGM	GRCh37	2	198949510	198949510	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	43	10	.	.	ENST00000428675.1:c.1269G>T	p.Arg423Ser	p.R423S	ENST00000428675	NM_006226.3	423	agG/agT	0	1	1	UPI000165BCF5	0	getma.org/pdb.php?prot=PLCL1_HUMAN&from=400&to=543&var=R423S	ENST00000428675		ENSG00000115896	9063		53	0.53		HGNC	p.R349S		PLCL1		SNV							ENST00000487695	protein_coding	getma.org/?cm=var&var=hg19,2,198949510,G,T&fts=all		PROSITE_profiles:PS50007,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,Superfamily_domains:SSF51695		R/S		T	neutral	1667/5125		getma.org/?cm=msa&ty=f&p=PLCL1_HUMAN&rb=400&re=543&var=R423S	tolerated(0.26)				YES	PLCL1,missense_variant,p.Arg423Ser,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Arg325Ser,ENST00000437704,;PLCL1,missense_variant,p.Arg349Ser,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;							MODERATE	1269/3288	R423S	PLCL1_HUMAN			Transcript		benign(0.3)	.	ENSP00000402861		CCDS2326.2			1	
THAP6	0	LGGM	GRCh37	4	76452414	76452414	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	54	10	.	.	ENST00000311638.3:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000311638	NM_144721.4	220	tAt/tGt	0	1	1	UPI000006D12F	0	NA	ENST00000311638		ENSG00000174796	23189		64	0.345		HGNC	p.Y220C	rs369485771	THAP6		SNV	G:0.0005			9.63E-05			ENST00000311638	protein_coding	getma.org/?cm=var&var=hg19,4,76452414,A,G&fts=all				Y/C	G:0	G	neutral	727/3549		getma.org/?cm=msa&ty=f&p=THAP6_HUMAN&rb=189&re=222&var=Y220C	tolerated_low_confidence(0.16)	D6RJG2_HUMAN,D6RC19_HUMAN			YES	THAP6,missense_variant,p.Tyr220Cys,ENST00000311638,NM_144721.4;THAP6,missense_variant,p.Tyr178Cys,ENST00000380837,;THAP6,missense_variant,p.Tyr220Cys,ENST00000514480,;THAP6,intron_variant,,ENST00000507556,;THAP6,intron_variant,,ENST00000504190,;THAP6,intron_variant,,ENST00000507885,;THAP6,intron_variant,,ENST00000502620,;THAP6,intron_variant,,ENST00000507557,;THAP6,downstream_gene_variant,,ENST00000508105,;							MODERATE	659/669	Y220C	THAP6_HUMAN			Transcript		benign(0)	.	ENSP00000309007	8.24E-06	CCDS3568.1			1	
TMPRSS7	0	LGGM	GRCh37	3	111766711	111766711	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	31	11	.	.	ENST00000419127.1:c.478C>A	p.Arg160Ser	p.R160S	ENST00000419127	NM_001042575.2	160	Cgt/Agt	0	1		UPI0000049845	0	NA	ENST00000452346		ENSG00000176040	30846		42	1.335		HGNC	p.R286S		TMPRSS7		SNV							ENST00000452346	protein_coding	getma.org/?cm=var&var=hg19,3,111766711,C,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF17,SMART_domains:SM00042,Superfamily_domains:SSF49854		R/S		A	low	859/2616		getma.org/?cm=msa&ty=f&p=TMPS7_HUMAN&rb=247&re=357&var=R286S	tolerated(0.39)					TMPRSS7,missense_variant,p.Arg286Ser,ENST00000452346,;TMPRSS7,missense_variant,p.Arg160Ser,ENST00000419127,NM_001042575.2;TMPRSS7,missense_variant,p.Arg149Ser,ENST00000460599,;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;							MODERATE	856/2532	R286S	TMPS7_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000398236					1	
ZNF432	0	LGGM	GRCh37	19	52537545	52537545	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	51	11	.	.	ENST00000594154.1:c.1387G>A	p.Gly463Arg	p.G463R	ENST00000594154		463	Ggg/Agg	0	1		UPI0000139CDC	0	getma.org/pdb.php?prot=ZN432_HUMAN&from=443&to=467&var=G463R	ENST00000221315		ENSG00000256087	20810		62	2.285		HGNC	p.G463R	rs770483616	ZNF432		SNV							ENST00000594154	protein_coding	getma.org/?cm=var&var=hg19,19,52537545,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/R		T	medium	1705/2577	3.00E-05	getma.org/?cm=msa&ty=f&p=ZN432_HUMAN&rb=423&re=487&var=G463R	deleterious(0.04)	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN				ZNF432,missense_variant,p.Gly463Arg,ENST00000594154,;ZNF432,missense_variant,p.Gly463Arg,ENST00000221315,NM_014650.2;ZNF432,downstream_gene_variant,,ENST00000600368,;ZNF614,upstream_gene_variant,,ENST00000597952,;ZNF432,downstream_gene_variant,,ENST00000598745,;							MODERATE	1387/1959	G463R	ZN432_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000221315	1.65E-05	CCDS12848.1			1	
IFI44L	0	LGGM	GRCh37	1	79093672	79093672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	28	11	.	.	ENST00000370751.5:c.72G>T	p.Leu24Phe	p.L24F	ENST00000370751	NM_006820.2	24	ttG/ttT	0	1	1	UPI0000374C64	0	NA	ENST00000370751		ENSG00000137959	17817		39	1.15		HGNC	p.L24F		IFI44L		SNV							ENST00000370751	protein_coding	getma.org/?cm=var&var=hg19,1,79093672,G,T&fts=all				L/F		T	low	251/5874		getma.org/?cm=msa&ty=f&p=IF44L_HUMAN&rb=1&re=50&var=L24F	tolerated(0.56)	C9JPJ0_HUMAN,B4E019_HUMAN			YES	IFI44L,start_lost,p.Leu1?,ENST00000450498,;IFI44L,missense_variant,p.Leu24Phe,ENST00000370751,NM_006820.2;IFI44L,missense_variant,p.Leu24Phe,ENST00000452835,;IFI44L,intron_variant,,ENST00000342282,;IFI44L,non_coding_transcript_exon_variant,,ENST00000462041,;IFI44L,intron_variant,,ENST00000476521,;IFI44L,intron_variant,,ENST00000476876,;IFI44L,intron_variant,,ENST00000459784,;IFI44L,non_coding_transcript_exon_variant,,ENST00000486882,;IFI44L,upstream_gene_variant,,ENST00000474002,;							MODERATE	72/1359	L24F	IF44L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359787		CCDS687.2			1	
ACAD11	0	LGGM	GRCh37	3	132349364	132349364	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	40	11	.	.	ENST00000264990.6:c.880C>A	p.Arg294Ser	p.R294S	ENST00000264990	NM_032169.4	294	Cgc/Agc	0	1	1	UPI00003671B7	0	NA	ENST00000264990		ENSG00000240303	30211		51	1.435		HGNC	p.R294S		ACAD11		SNV							ENST00000355458	protein_coding	getma.org/?cm=var&var=hg19,3,132349364,G,T&fts=all		Gene3D:3.90.1200.10,Superfamily_domains:SSF56112		R/S		T	low	1852/4142		getma.org/?cm=msa&ty=f&p=ACD11_HUMAN&rb=284&re=375&var=R294S	tolerated(0.71)	Q08AE9_HUMAN,B4DQ41_HUMAN			YES	ACAD11,missense_variant,p.Arg294Ser,ENST00000264990,NM_032169.4;ACAD11,missense_variant,p.Arg294Ser,ENST00000355458,;ACAD11,missense_variant,p.Arg294Ser,ENST00000481970,;ACAD11,5_prime_UTR_variant,,ENST00000545291,;ACAD11,non_coding_transcript_exon_variant,,ENST00000489991,;ACAD11,missense_variant,p.Arg294Ser,ENST00000485198,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,upstream_gene_variant,,ENST00000487024,;							MODERATE	880/2343	R294S	ACD11_HUMAN			Transcript		benign(0.02)	.	ENSP00000264990		CCDS3074.1			1	
TAS2R1	0	LGGM	GRCh37	5	9629939	9629939	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	56	11	.	.	ENST00000382492.2:c.206T>C	p.Val69Ala	p.V69A	ENST00000382492	NM_019599.2	69	gTt/gCt	0	1	1	UPI0000038B09	0	NA	ENST00000382492		ENSG00000169777	14909		67	1.7		HGNC	p.V69A		TAS2R1		SNV							ENST00000382492	protein_coding	getma.org/?cm=var&var=hg19,5,9629939,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF36,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/A		G	low	525/1355		getma.org/?cm=msa&ty=f&p=TA2R1_HUMAN&rb=1&re=296&var=V69A	tolerated(0.41)	U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN			YES	TAS2R1,missense_variant,p.Val69Ala,ENST00000382492,NM_019599.2;TAS2R1,missense_variant,p.Val29Ala,ENST00000514078,;TAS2R1,missense_variant,p.Val29Ala,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;							MODERATE	206/900	V69A	TA2R1_HUMAN			Transcript		benign(0.159)	.	ENSP00000371932		CCDS3876.1			1	
IL22RA2	0	LGGM	GRCh37	6	137479536	137479536	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	44	12	.	.	ENST00000296980.2:c.145C>T	p.Pro49Ser	p.P49S	ENST00000296980	NM_052962.2	49	Cct/Tct	0	1	1	UPI0000062347	0	getma.org/pdb.php?prot=I22R2_HUMAN&from=7&to=146&var=P49S	ENST00000296980		ENSG00000164485	14901		56	1.945		HGNC	p.P49S		IL22RA2		SNV							ENST00000339602	protein_coding	getma.org/?cm=var&var=hg19,6,137479536,G,A&fts=all		hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF51,Pfam_domain:PF01108,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		P/S		A	medium	446/2886		getma.org/?cm=msa&ty=f&p=I22R2_HUMAN&rb=7&re=146&var=P49S	deleterious(0.01)				YES	IL22RA2,missense_variant,p.Pro49Ser,ENST00000296980,NM_052962.2;IL22RA2,missense_variant,p.Pro49Ser,ENST00000349184,NM_181309.1;IL22RA2,missense_variant,p.Pro49Ser,ENST00000339602,NM_181310.1;							MODERATE	145/792	P49S	I22R2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000296980		CCDS5182.1			1	
TRRAP	0	LGGM	GRCh37	7	98560020	98560020	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	67	12	.	.	ENST00000359863.4:c.6778G>T	p.Ala2260Ser	p.A2260S	ENST00000359863	NM_001244580.1	2260	Gcc/Tcc	0	1	1	UPI00004575B4	0	NA	ENST00000359863		ENSG00000196367	12347		79	-0.09		HGNC	p.A2260S		TRRAP		SNV							ENST00000359863	protein_coding	getma.org/?cm=var&var=hg19,7,98560020,G,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Superfamily_domains:SSF48371		A/S		T	neutral	6987/12677		getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=2201&re=2400&var=A2260S		C9K0N1_HUMAN			YES	TRRAP,missense_variant,p.Ala2260Ser,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Ala2242Ser,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Ala2241Ser,ENST00000446306,;TRRAP,missense_variant,p.Ala1982Ser,ENST00000456197,;							MODERATE	6778/11580	A2260S	TRRAP_HUMAN			Transcript		benign(0.023)	.	ENSP00000352925		CCDS59066.1			1	
RLTPR	0	LGGM	GRCh37	16	67684007	67684007	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	50	12	.	.	ENST00000334583.6:c.2138C>T	p.Thr713Met	p.T713M	ENST00000334583	NM_001013838.1	713	aCg/aTg	0	1	1	UPI00005194F2	0	NA	ENST00000334583		ENSG00000159753	27089		62	-1.1		HGNC	p.T713M		RLTPR		SNV							ENST00000334583	protein_coding	getma.org/?cm=var&var=hg19,16,67684007,C,T&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41		T/M		T	neutral	2466/4687		getma.org/?cm=msa&ty=f&p=LR16C_HUMAN&rb=632&re=831&var=T713M	tolerated(0.07)				YES	RLTPR,missense_variant,p.Thr713Met,ENST00000334583,NM_001013838.1;RLTPR,missense_variant,p.Thr677Met,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,;							MODERATE	2138/4308	T713M	LR16C_HUMAN			Transcript		benign(0.018)	.	ENSP00000334958		CCDS45513.1			1	
CRISP1	0	LGGM	GRCh37	6	49814234	49814234	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	38	12	.	.	ENST00000335847.4:c.434A>T	p.Gln145Leu	p.Q145L	ENST00000335847	NM_001131.2	145	cAg/cTg	0	1	1	UPI0000128482	0	getma.org/pdb.php?prot=CRIS1_HUMAN&from=45&to=175&var=Q145L	ENST00000335847		ENSG00000124812	304		50	4.165		HGNC	p.Q145L		CRISP1		SNV							ENST00000536021	protein_coding	getma.org/?cm=var&var=hg19,6,49814234,T,A&fts=all		hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF68,PROSITE_patterns:PS01009,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797,Prints_domain:PR00837,Prints_domain:PR00838		Q/L		A	high	536/1911		getma.org/?cm=msa&ty=f&p=CRIS1_HUMAN&rb=45&re=175&var=Q145L	deleterious(0)				YES	CRISP1,missense_variant,p.Gln145Leu,ENST00000335847,NM_001131.2;CRISP1,missense_variant,p.Gln145Leu,ENST00000355791,;CRISP1,missense_variant,p.Gln145Leu,ENST00000507853,NM_170609.1;CRISP1,missense_variant,p.Gln145Leu,ENST00000329411,;CRISP1,missense_variant,p.Gln145Leu,ENST00000505118,NM_001205220.1;CRISP1,missense_variant,p.Gln145Leu,ENST00000536021,;							MODERATE	434/750	Q145L	CRIS1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000338276		CCDS4931.1			1	
ITSN2	0	LGGM	GRCh37	2	24524082	24524082	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	41	13	.	.	ENST00000355123.4:c.1022A>G	p.Asn341Ser	p.N341S	ENST00000355123	NM_006277.2	341	aAt/aGt	0	1	1	UPI000013D415	0	NA	ENST00000355123		ENSG00000198399	6184		54	1.5		HGNC	p.N341S		ITSN2		SNV							ENST00000355123	protein_coding	getma.org/?cm=var&var=hg19,2,24524082,T,C&fts=all		hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29		N/S		C	low	1466/6300		getma.org/?cm=msa&ty=f&p=ITSN2_HUMAN&rb=334&re=533&var=N341S	tolerated(0.4)	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN			YES	ITSN2,missense_variant,p.Asn341Ser,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Asn341Ser,ENST00000361999,NM_019595.3;ITSN2,missense_variant,p.Asn341Ser,ENST00000406921,NM_147152.2;ITSN2,missense_variant,p.Asn366Ser,ENST00000412011,;							MODERATE	1022/5094	N341S	ITSN2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000347244		CCDS1710.2			1	
PTRHD1	0	LGGM	GRCh37	2	25016112	25016112	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	29	13	.	.	ENST00000328379.5:c.135C>G	p.Gly45=	p.G45=	ENST00000328379	NM_001013663.1	45	ggC/ggG	0	1	1	UPI0000049FBE	0		ENST00000328379		ENSG00000184924	33782		42			HGNC	p.G45G		PTRHD1		SNV							ENST00000328379	protein_coding			Gene3D:3.40.1490.10,Pfam_domain:PF01981,hmmpanther:PTHR11717,hmmpanther:PTHR11717:SF2,Superfamily_domains:SSF102462		G		C		140/1105							YES	PTRHD1,synonymous_variant,p.=,ENST00000328379,NM_001013663.1;CENPO,5_prime_UTR_variant,,ENST00000380834,;CENPO,5_prime_UTR_variant,,ENST00000473706,NM_001199803.1;CENPO,upstream_gene_variant,,ENST00000260662,NM_024322.2;CENPO,intron_variant,,ENST00000473476,;PTRHD1,upstream_gene_variant,,ENST00000487316,;PTRHD1,upstream_gene_variant,,ENST00000480190,;CENPO,upstream_gene_variant,,ENST00000498362,;PTRHD1,upstream_gene_variant,,ENST00000474668,;PTRHD1,upstream_gene_variant,,ENST00000492046,;CENPO,upstream_gene_variant,,ENST00000491031,;CENPO,upstream_gene_variant,,ENST00000486527,;PTRHD1,upstream_gene_variant,,ENST00000467797,;							LOW	135/423		PTRD1_HUMAN			Transcript			.	ENSP00000330389		CCDS33156.1			1	
INTS2	0	LGGM	GRCh37	17	59945304	59945304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	77	14	.	.	ENST00000444766.3:c.3335G>T	p.Arg1112Leu	p.R1112L	ENST00000444766	NM_020748.2	1112	cGa/cTa	0	1	1	UPI0000E5A03A	0	NA	ENST00000444766		ENSG00000108506	29241		91	0.345		HGNC	p.R1112L		INTS2		SNV							ENST00000444766	protein_coding	getma.org/?cm=var&var=hg19,17,59945304,C,A&fts=all		Pfam_domain:PF14750		R/L		A	neutral	3411/5878		getma.org/?cm=msa&ty=f&p=INT2_HUMAN&rb=6&re=1202&var=R1112L	tolerated(0.27)	J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,missense_variant,p.Arg1112Leu,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Arg1104Leu,ENST00000251334,;BRIP1,upstream_gene_variant,,ENST00000259008,NM_032043.2;BRIP1,upstream_gene_variant,,ENST00000577913,;INTS2,downstream_gene_variant,,ENST00000583822,;							MODERATE	3335/3615	R1112L	INT2_HUMAN			Transcript		benign(0.117)	.	ENSP00000414237		CCDS45750.1			1	
TTI1	0	LGGM	GRCh37	20	36640493	36640493	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	69	15	.	.	ENST00000373448.2:c.1726C>G	p.Leu576Val	p.L576V	ENST00000373448	NM_014657.1	576	Ctt/Gtt	0	1		UPI000012DB27	0	NA	ENST00000373447		ENSG00000101407	29029		84	-0.345		HGNC	p.L576V		TTI1		SNV							ENST00000373448	protein_coding	getma.org/?cm=var&var=hg19,20,36640493,G,C&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460		L/V		C	neutral	1832/3825		getma.org/?cm=msa&ty=f&p=TTI1_HUMAN&rb=1&re=1068&var=L576V	tolerated(0.5)	D6W4K3_HUMAN				TTI1,missense_variant,p.Leu576Val,ENST00000373448,NM_014657.1;TTI1,missense_variant,p.Leu576Val,ENST00000373447,;TTI1,missense_variant,p.Leu576Val,ENST00000449821,;TTI1,non_coding_transcript_exon_variant,,ENST00000487362,;							MODERATE	1726/3270	L576V	TTI1_HUMAN			Transcript		benign(0.005)	.	ENSP00000362546		CCDS13300.1			1	
LEF1	0	LGGM	GRCh37	4	109084774	109084774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	55	16	.	.	ENST00000265165.1:c.364A>G	p.Asn122Asp	p.N122D	ENST00000265165	NM_016269.4	122	Aac/Gac	0	1	1	UPI0000052242	0	NA	ENST00000265165		ENSG00000138795	6551		71	0.755		HGNC	p.N54D		LEF1		SNV							ENST00000510624	protein_coding	getma.org/?cm=var&var=hg19,4,109084774,T,C&fts=all		Pfam_domain:PF08347,hmmpanther:PTHR10373:SF11,hmmpanther:PTHR10373		N/D		C	neutral	1019/3068		getma.org/?cm=msa&ty=f&p=LEF1_HUMAN&rb=1&re=213&var=N122D	tolerated(0.07)	Q8IZI3_HUMAN,Q659G9_HUMAN			YES	LEF1,missense_variant,p.Asn122Asp,ENST00000379951,NM_001130714.2,NM_001130713.2;LEF1,missense_variant,p.Asn122Asp,ENST00000265165,NM_016269.4;LEF1,missense_variant,p.Asn122Asp,ENST00000438313,;LEF1,missense_variant,p.Asn54Asp,ENST00000510624,NM_001166119.1;LEF1,missense_variant,p.Asn54Asp,ENST00000515500,;LEF1,missense_variant,p.Asn54Asp,ENST00000512172,;LEF1-AS1,upstream_gene_variant,,ENST00000436413,;LEF1,non_coding_transcript_exon_variant,,ENST00000510135,;LEF1,non_coding_transcript_exon_variant,,ENST00000509428,;LEF1,non_coding_transcript_exon_variant,,ENST00000504775,;LEF1,non_coding_transcript_exon_variant,,ENST00000510717,;LEF1,non_coding_transcript_exon_variant,,ENST00000505293,;LEF1,missense_variant,p.Asn122Asp,ENST00000506680,;LEF1,missense_variant,p.Asn54Asp,ENST00000504950,;							MODERATE	364/1200	N122D	LEF1_HUMAN			Transcript		benign(0.005)	.	ENSP00000265165		CCDS3679.1			1	
VPS13D	0	LGGM	GRCh37	1	12378167	12378167	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	95	17	.	.	ENST00000358136.3:c.7187A>G	p.Asn2396Ser	p.N2396S	ENST00000358136	NM_015378.2	2396	aAc/aGc	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		112	2.275		HGNC	p.N2396S		VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12378167,A,G&fts=all		hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166		N/S		G	medium	7317/16318		getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=2319&re=2518&var=N2396S		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Asn2396Ser,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Asn2396Ser,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Asn1219Ser,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,non_coding_transcript_exon_variant,,ENST00000487188,;							MODERATE	7187/13167	N2396S				Transcript		probably_damaging(0.971)	.	ENSP00000350854		CCDS30588.1			1	
AMY1C	0	LGGM	GRCh37	1	104297153	104297153	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	132	19	.	.	ENST00000370079.3:c.911C>G	p.Ser304Cys	p.S304C	ENST00000370079	NM_001008219.1	304	tCt/tGt	0	1	1	UPI0000125AA9	0	getma.org/pdb.php?prot=AMY1_HUMAN&from=36&to=351&var=S304C	ENST00000370079		ENSG00000187733	476		151	3.83		HGNC	p.S304C		AMY1C		SNV							ENST00000370079	protein_coding	getma.org/?cm=var&var=hg19,1,104297153,C,G&fts=all		hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445		S/C		G	high	975/1632		getma.org/?cm=msa&ty=f&p=AMY1_HUMAN&rb=36&re=351&var=S304C	deleterious(0)	Q5T085_HUMAN,Q5T084_HUMAN			YES	AMY1C,missense_variant,p.Ser304Cys,ENST00000370079,NM_001008219.1;							MODERATE	911/1536	S304C	AMY1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000359096		CCDS30784.1			1	
TLR4	0	LGGM	GRCh37	9	120470973	120470973	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	82	21	.	.	ENST00000355622.6:c.226A>G	p.Ser76Gly	p.S76G	ENST00000355622	NM_138557.2	76	Agt/Ggt	0	1	1	UPI0000137057	0	getma.org/pdb.php?prot=TLR4_HUMAN&from=55&to=114&var=S76G	ENST00000355622		ENSG00000136869	11850		103	-0.275		HGNC	p.S76G		TLR4		SNV			1				ENST00000355622	protein_coding	getma.org/?cm=var&var=hg19,9,120470973,A,G&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,SMART_domains:SM00369,Superfamily_domains:SSF52047		S/G		G	neutral	327/4844		getma.org/?cm=msa&ty=f&p=TLR4_HUMAN&rb=55&re=114&var=S76G	tolerated(0.15)	K9MSZ3_HUMAN,D0EWT7_HUMAN			YES	TLR4,missense_variant,p.Ser76Gly,ENST00000355622,NM_138557.2,NM_138554.4;TLR4,missense_variant,p.Ser36Gly,ENST00000394487,NM_003266.3;RNU6-1082P,upstream_gene_variant,,ENST00000364574,;TLR4,non_coding_transcript_exon_variant,,ENST00000490685,;TLR4,intron_variant,,ENST00000472304,;							MODERATE	226/2520	S76G	TLR4_HUMAN			Transcript		benign(0.104)	.	ENSP00000363089		CCDS6818.1			1	
RBBP8	0	LGGM	GRCh37	18	20573248	20573248	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	49	21	.	.	ENST00000399722.2:c.1458G>C	p.Val486=	p.V486=	ENST00000399722	NM_203291.1	486	gtG/gtC	0	1		UPI000013D1A9	0		ENST00000327155		ENSG00000101773	9891		70			HGNC	p.V486V		RBBP8		SNV			1				ENST00000399721	protein_coding			hmmpanther:PTHR15107:SF2,hmmpanther:PTHR15107		V		C		1806/3288				J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN				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,upstream_gene_variant,,ENST00000583057,;RBBP8,downstream_gene_variant,,ENST00000577445,;RBBP8,downstream_gene_variant,,ENST00000585177,;							LOW	1458/2694		COM1_HUMAN			Transcript			.	ENSP00000323050		CCDS11875.1			1	
MYH1	0	LGGM	GRCh37	17	10417331	10417331	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050226	H050226N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	70	21	.	.	ENST00000226207.5:c.644T>C	p.Met215Thr	p.M215T	ENST00000226207	NM_005963.3	215	aTg/aCg	0	1	1	UPI000013C891	0	getma.org/pdb.php?prot=MYH1_HUMAN&from=88&to=770&var=M215T	ENST00000226207		ENSG00000109061	7567		91	-0.235		HGNC	p.M215T		MYH1		SNV							ENST00000226207	protein_coding	getma.org/?cm=var&var=hg19,17,10417331,A,G&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,SMART_domains:SM00242,Superfamily_domains:SSF52540		M/T		G	neutral	739/6024		getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=88&re=770&var=M215T	tolerated(0.25)				YES	MYH1,missense_variant,p.Met215Thr,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	644/5820	M215T	MYH1_HUMAN			Transcript		benign(0.002)	.	ENSP00000226207		CCDS11155.1			1	
NYAP2	0	LGGM	GRCh37	2	226273712	226273712	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	114	22	.	.	ENST00000272907.6:c.116C>T	p.Ala39Val	p.A39V	ENST00000272907	NM_020864.1	39	gCg/gTg	0	1	1	UPI00001C1DB6	0	NA	ENST00000272907		ENSG00000144460	29291		136	2.16		HGNC	p.A39V	rs368820040,COSM1017241	NYAP2		SNV	T:0					0,1	ENST00000272907	protein_coding	getma.org/?cm=var&var=hg19,2,226273712,C,T&fts=all		hmmpanther:PTHR22633		A/V	T:0.0001	T	medium	529/4828	1.50E-05	getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=1&re=200&var=A39V	deleterious(0.04)				YES	NYAP2,missense_variant,p.Ala39Val,ENST00000272907,NM_020864.1;NYAP2,missense_variant,p.Ala39Val,ENST00000409269,;					0,1		MODERATE	116/1962	A39V	NYAP2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000272907	8.28E-06	CCDS46529.1			1	
COL9A3	0	LGGM	GRCh37	20	61468519	61468519	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050226	H050226N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	96	22	.	.	ENST00000343916.3:c.1688G>A	p.Gly563Glu	p.G563E	ENST00000343916	NM_001853.3	563	gGg/gAg	0	1	1	UPI0000126D51	0	NA	ENST00000343916		ENSG00000092758	2219		118	4		HGNC	p.G563E		COL9A3		SNV			1				ENST00000343916	protein_coding	getma.org/?cm=var&var=hg19,20,61468519,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF364,hmmpanther:PTHR24023,Pfam_domain:PF01391		G/E		A	high	1691/2485		getma.org/?cm=msa&ty=f&p=CO9A3_HUMAN&rb=549&re=610&var=G563E	deleterious(0)	Q96IF4_HUMAN			YES	COL9A3,missense_variant,p.Gly563Glu,ENST00000343916,NM_001853.3;TCFL5,downstream_gene_variant,,ENST00000335351,NM_006602.2;COL9A3,non_coding_transcript_exon_variant,,ENST00000462700,;COL9A3,non_coding_transcript_exon_variant,,ENST00000467819,;COL9A3,non_coding_transcript_exon_variant,,ENST00000466532,;COL9A3,non_coding_transcript_exon_variant,,ENST00000466192,;COL9A3,non_coding_transcript_exon_variant,,ENST00000469802,;COL9A3,downstream_gene_variant,,ENST00000472880,;COL9A3,downstream_gene_variant,,ENST00000469852,;COL9A3,downstream_gene_variant,,ENST00000481800,;COL9A3,downstream_gene_variant,,ENST00000490398,;							MODERATE	1688/2055	G563E	CO9A3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341640		CCDS13505.1			1	
MROH2B	0	LGGM	GRCh37	5	41033187	41033187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050226	H050226N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	113	23	.	.	ENST00000399564.4:c.2317G>T	p.Gly773Trp	p.G773W	ENST00000399564	NM_173489.4	773	Ggg/Tgg	0	1	1	UPI000020CA04	0	NA	ENST00000399564		ENSG00000171495	26857		136	0.69		HGNC	p.G328W		MROH2B		SNV							ENST00000506092	protein_coding	getma.org/?cm=var&var=hg19,5,41033187,C,A&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371		G/W		A	neutral	2768/5239		getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=G773W	deleterious(0.03)	F5GZ06_HUMAN			YES	MROH2B,missense_variant,p.Gly773Trp,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Gly328Trp,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;							MODERATE	2317/4758	G773W	MRO2B_HUMAN			Transcript		benign(0.007)	.	ENSP00000382476		CCDS47202.1			1	
OTOGL	0	LGGM	GRCh37	12	80717547	80717547	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050226	H050226N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050226N.bam, H050226T.bam	Illumina HiSeq	128	29	.	.	ENST00000458043.2:c.4099T>C	p.Tyr1367His	p.Y1367H	ENST00000458043	NM_173591.3	1367	Tat/Cat	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901		157	2.205		HGNC	p.Y1367H		OTOGL		SNV			1				ENST00000458043	protein_coding	getma.org/?cm=var&var=hg19,12,80717547,T,C&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,Gene3D:2.10.25.10		Y/H		C	medium	4105/8032		getma.org/?cm=msa&ty=f&p=F8W0C3_HUMAN&rb=1201&re=1400&var=Y1367H	deleterious(0.02)	E2QRK2_HUMAN				OTOGL,missense_variant,p.Tyr1367His,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Tyr1367His,ENST00000547103,;							MODERATE	4099/6999	Y1367H	OTOGL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000447211					1	
NT5M	0	LGGM	GRCh37	17	17250218	17250218	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	4	2	.	.	ENST00000389022.4:c.644C>A	p.Ala215Glu	p.A215E	ENST00000389022	NM_020201.3	215	gCg/gAg	0	1	1	UPI0000073CAE	0	getma.org/pdb.php?prot=NT5M_HUMAN&from=34&to=227&var=A215E	ENST00000389022		ENSG00000205309	15769		6	0.345		HGNC	p.A215E		NT5M		SNV							ENST00000389022	protein_coding	getma.org/?cm=var&var=hg19,17,17250218,C,A&fts=all		hmmpanther:PTHR16504,hmmpanther:PTHR16504:SF2,Gene3D:3.40.50.1000,Pfam_domain:PF06941,Superfamily_domains:SSF56784		A/E		A	neutral	860/1617		getma.org/?cm=msa&ty=f&p=NT5M_HUMAN&rb=34&re=227&var=A215E	tolerated(0.09)	Q2I378_HUMAN			YES	NT5M,missense_variant,p.Ala215Glu,ENST00000389022,NM_020201.3;NT5M,non_coding_transcript_exon_variant,,ENST00000582909,;NT5M,non_coding_transcript_exon_variant,,ENST00000480529,;NT5M,3_prime_UTR_variant,,ENST00000483704,;NT5M,downstream_gene_variant,,ENST00000470418,;NT5M,downstream_gene_variant,,ENST00000478373,;							MODERATE	644/687	A215E	NT5M_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000373674		CCDS32581.1			1	
TRPV1	0	LGGM	GRCh37	17	3494275	3494275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	6	2	.	.	ENST00000571088.1:c.587C>A	p.Thr196Lys	p.T196K	ENST00000571088	NM_018727.5	196	aCg/aAg	0	1		UPI00005B2E0C	0	getma.org/pdb.php?prot=TRPV1_HUMAN&from=1&to=200&var=T196K	ENST00000399756		ENSG00000196689	12716		8	1.955		HGNC	p.T196K		TRPV1		SNV							ENST00000571088	protein_coding	getma.org/?cm=var&var=hg19,17,3494275,G,T&fts=all		Gene3D:1.25.40.20,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870		T/K		T	medium	1114/4068		getma.org/?cm=msa&ty=f&p=TRPV1_HUMAN&rb=1&re=200&var=T196K	tolerated(0.7)	Q8IZY9_HUMAN				TRPV1,missense_variant,p.Thr194Lys,ENST00000174621,;SHPK,missense_variant,p.Thr196Lys,ENST00000572705,NM_080704.3;TRPV1,missense_variant,p.Thr196Lys,ENST00000571088,NM_018727.5;TRPV1,missense_variant,p.Thr196Lys,ENST00000399759,NM_080705.3;TRPV1,missense_variant,p.Thr196Lys,ENST00000399756,NM_080706.3;TRPV1,missense_variant,p.Thr196Lys,ENST00000425167,;TRPV1,missense_variant,p.Thr196Lys,ENST00000576351,;TRPV1,missense_variant,p.Thr196Lys,ENST00000310522,;SHPK,3_prime_UTR_variant,,ENST00000572919,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;							MODERATE	587/2520	T196K	TRPV1_HUMAN			Transcript		benign(0.235)	.	ENSP00000382659		CCDS45576.1			1	
CPZ	0	LGGM	GRCh37	4	8616093	8616093	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	11	2	.	.	ENST00000360986.4:c.1371C>A	p.Ser457=	p.S457=	ENST00000360986	NM_001014447.2	457	tcC/tcA	0	1	1	UPI000020BCC5	0		ENST00000360986		ENSG00000109625	2333		13			HGNC	p.S65S		CPZ		SNV							ENST00000429646	protein_coding			Superfamily_domains:SSF53187,SMART_domains:SM00631,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532		S		A		1545/2267							YES	CPZ,synonymous_variant,p.=,ENST00000429646,;CPZ,synonymous_variant,p.=,ENST00000382480,NM_001014448.2;CPZ,synonymous_variant,p.=,ENST00000360986,NM_001014447.2;CPZ,synonymous_variant,p.=,ENST00000315782,NM_003652.3;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,upstream_gene_variant,,ENST00000513486,;							LOW	1371/1959		CBPZ_HUMAN			Transcript			.	ENSP00000354255		CCDS33953.1			1	
ICAM5	0	LGGM	GRCh37	19	10406052	10406052	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	6	2	.	.	ENST00000221980.4:c.2261C>A	p.Ser754Ter	p.S754*	ENST00000221980	NM_003259.3	754	tCg/tAg	0	1	1	UPI000013C7E4	0	NA	ENST00000221980		ENSG00000105376	5348		8	0		HGNC	p.S754X		ICAM5		SNV							ENST00000221980	protein_coding	getma.org/?cm=var&var=hg19,19,10406052,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/*		A	NA	2324/3000		NA		K7EIL3_HUMAN			YES	ICAM5,stop_gained,p.Ser754Ter,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,;							HIGH	2261/2775	S754*	ICAM5_HUMAN			Transcript			.	ENSP00000221980		CCDS12233.1			1	
MIR3667HG	0	LGGM	GRCh37	22	50018226	50018226	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	9	2	.	.	ENST00000400023.1:c.238T>A	p.Cys80Ser	p.C80S	ENST00000400023		80	Tgt/Agt	0	1	1	UPI00001984F9	0		ENST00000400023		ENSG00000188511	28010		11			HGNC	p.C79S		C22orf34		SNV							ENST00000405854	protein_coding			Low_complexity_(Seg):seg		C/S		T		321/1469			deleterious_low_confidence(0)				YES	C22orf34,missense_variant,p.Cys79Ser,ENST00000444628,;C22orf34,missense_variant,p.Cys79Ser,ENST00000405854,;C22orf34,missense_variant,p.Cys80Ser,ENST00000400023,;C22orf34,5_prime_UTR_variant,,ENST00000343999,;C22orf34,intron_variant,,ENST00000414287,;C22orf34,intron_variant,,ENST00000416411,;							MODERATE	238/552		CV034_HUMAN			Transcript		benign(0.291)	.	ENSP00000382900					1	
ZNF385D	0	LGGM	GRCh37	3	21462912	21462912	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	18	3	.	.	ENST00000281523.2:c.982T>A	p.Ser328Thr	p.S328T	ENST00000281523	NM_024697.2	328	Tca/Aca	0	1	1	UPI00000724AC	0	NA	ENST00000281523		ENSG00000151789	26191		21	-0.65		HGNC	p.S328T		ZNF385D		SNV							ENST00000281523	protein_coding	getma.org/?cm=var&var=hg19,3,21462912,A,T&fts=all		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12		S/T		T	neutral	1501/4498		getma.org/?cm=msa&ty=f&p=Z385D_HUMAN&rb=292&re=395&var=S328T	tolerated(1)				YES	ZNF385D,missense_variant,p.Ser328Thr,ENST00000281523,NM_024697.2;ZNF385D,non_coding_transcript_exon_variant,,ENST00000467140,;							MODERATE	982/1188	S328T	Z385D_HUMAN			Transcript		benign(0.001)	.	ENSP00000281523		CCDS2636.1			1	
TCEB3C	0	LGGM	GRCh37	18	44554583	44554583	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	34	3	.	.	ENST00000330682.2:c.1631C>T	p.Ser544Phe	p.S544F	ENST00000330682	NM_145653.3	544	tCc/tTc	0	1	1	UPI0000140A9D	0	NA	ENST00000330682		ENSG00000183791	24617		37	1.445		HGNC	p.S544F		TCEB3C		SNV							ENST00000330682	protein_coding	getma.org/?cm=var&var=hg19,18,44554583,G,A&fts=all		hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36		S/F		A	low	1867/1877		getma.org/?cm=msa&ty=f&p=ELOA3_HUMAN&rb=456&re=546&var=S544F	deleterious(0.02)				YES	TCEB3C,missense_variant,p.Ser544Phe,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;							MODERATE	1631/1641	S544F	ELOA3_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000328232		CCDS11931.1			1	
CHRNB4	0	LGGM	GRCh37	15	78921592	78921592	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	11	3	.	.	ENST00000261751.3:c.1055C>T	p.Pro352Leu	p.P352L	ENST00000261751	NM_000750.3	352	cCc/cTc	0	1	1	UPI0000125276	0	getma.org/pdb.php?prot=ACHB4_HUMAN&from=239&to=478&var=P352L	ENST00000261751		ENSG00000117971	1964		14	1.04		HGNC	p.P352L		CHRNB4		SNV							ENST00000261751	protein_coding	getma.org/?cm=var&var=hg19,15,78921592,G,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF385,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112		P/L		A	low	1167/2623		getma.org/?cm=msa&ty=f&p=ACHB4_HUMAN&rb=239&re=478&var=P352L	tolerated(0.27)				YES	CHRNB4,missense_variant,p.Pro352Leu,ENST00000261751,NM_000750.3;CHRNB4,intron_variant,,ENST00000412074,NM_001256567.1;RP11-335K5.2,downstream_gene_variant,,ENST00000559120,;CHRNB4,downstream_gene_variant,,ENST00000560511,;CHRNB4,downstream_gene_variant,,ENST00000559849,;							MODERATE	1055/1497	P352L	ACHB4_HUMAN			Transcript		benign(0.036)	.	ENSP00000261751		CCDS10306.1			1	
PAX9	0	LGGM	GRCh37	14	37132277	37132277	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	30	3	.	.	ENST00000361487.6:c.180C>A	p.Tyr60Ter	p.Y60*	ENST00000361487		60	taC/taA	0	1	1	UPI0000131377	0	NA	ENST00000361487		ENSG00000198807	8623		33	0		HGNC	p.Y60X		PAX9		SNV			1				ENST00000361487	protein_coding	getma.org/?cm=var&var=hg19,14,37132277,C,A&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00292,Prints_domain:PR00027,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF297,SMART_domains:SM00351,Superfamily_domains:SSF46689		Y/*		A	NA	405/4514		NA		Q7Z4A7_HUMAN,Q2L4T1_HUMAN,E9KY40_HUMAN			YES	PAX9,stop_gained,p.Tyr60Ter,ENST00000361487,;PAX9,stop_gained,p.Tyr60Ter,ENST00000402703,NM_006194.3;PAX9,5_prime_UTR_variant,,ENST00000554201,;RP11-964E11.2,upstream_gene_variant,,ENST00000555107,;PAX9,non_coding_transcript_exon_variant,,ENST00000555639,;PAX9,upstream_gene_variant,,ENST00000557107,;PAX9,downstream_gene_variant,,ENST00000553267,;							HIGH	180/1026	Y60*	PAX9_HUMAN			Transcript			.	ENSP00000355245		CCDS9662.1			1	
TNFAIP8L2	0	LGGM	GRCh37	1	151131311	151131311	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	34	3	.	.	ENST00000368910.3:c.138C>A	p.Ser46=	p.S46=	ENST00000368910	NM_024575.4	46	tcC/tcA	0	1	1	UPI00000373B5	0		ENST00000368910		ENSG00000163154	26277		37			HGNC	p.S46S		TNFAIP8L2		SNV							ENST00000368910	protein_coding			Pfam_domain:PF05527,hmmpanther:PTHR12757:SF4,hmmpanther:PTHR12757		S		A		264/1178							YES	TNFAIP8L2,synonymous_variant,p.=,ENST00000368910,NM_024575.4;SCNM1,intron_variant,,ENST00000602841,NM_001204848.1;LYSMD1,downstream_gene_variant,,ENST00000368908,NM_212551.4;LYSMD1,downstream_gene_variant,,ENST00000440902,NM_001136543.1;							LOW	138/555		TP8L2_HUMAN			Transcript			.	ENSP00000357906		CCDS985.1			1	
MED29	0	LGGM	GRCh37	19	39882039	39882039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	17	3	.	.	ENST00000315588.5:c.40C>T	p.Leu14Phe	p.L14F	ENST00000315588	NM_017592.1	14	Ctt/Ttt	0	1		UPI0000073695	0	NA	ENST00000599213		ENSG00000063322	23074		20	0.55		HGNC	p.L3F		MED29		SNV							ENST00000599213	protein_coding	getma.org/?cm=var&var=hg19,19,39882039,C,T&fts=all						T	neutral	Apr-90		getma.org/?cm=msa&ty=f&p=B4DUA7_HUMAN&rb=1&re=71&var=L14F		B4DN56_HUMAN,B4DGM4_HUMAN				MED29,missense_variant,p.Leu14Phe,ENST00000315588,NM_017592.1;MED29,5_prime_UTR_variant,,ENST00000599213,;MED29,5_prime_UTR_variant,,ENST00000594368,;PAF1,upstream_gene_variant,,ENST00000221265,NM_019088.3;PAF1,upstream_gene_variant,,ENST00000595564,NM_001256826.1;PAF1,upstream_gene_variant,,ENST00000221266,;MED29,upstream_gene_variant,,ENST00000596297,;PAF1,upstream_gene_variant,,ENST00000595379,;MED29,missense_variant,p.Leu14Phe,ENST00000599417,;MED29,5_prime_UTR_variant,,ENST00000600973,;PAF1,upstream_gene_variant,,ENST00000416728,;PAF1,upstream_gene_variant,,ENST00000595797,;PAF1,upstream_gene_variant,,ENST00000597365,;PAF1,upstream_gene_variant,,ENST00000598127,;PAF1,upstream_gene_variant,,ENST00000598594,;							MODIFIER	-/603	L14F	MED29_HUMAN			Transcript			.	ENSP00000471802					1	
TVP23B	0	LGGM	GRCh37	17	18694210	18694210	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	37	3	.	.	ENST00000307767.8:c.97C>A	p.His33Asn	p.H33N	ENST00000307767	NM_016078.4	33	Cat/Aat	0	1	1	UPI00000713C4	0	NA	ENST00000307767		ENSG00000171928	20399		40	2.345		HGNC	p.H33N		TVP23B		SNV							ENST00000574226	protein_coding	getma.org/?cm=var&var=hg19,17,18694210,C,A&fts=all		hmmpanther:PTHR13019,hmmpanther:PTHR13019:SF9,Pfam_domain:PF05832		H/N		A	medium	396/2064		getma.org/?cm=msa&ty=f&p=F18B1_HUMAN&rb=30&re=174&var=H33N	deleterious(0)	K7ENL4_HUMAN,J3QL63_HUMAN,I3L376_HUMAN			YES	TVP23B,missense_variant,p.His33Asn,ENST00000307767,NM_016078.4;TVP23B,missense_variant,p.His33Asn,ENST00000574226,;TVP23B,splice_region_variant,,ENST00000476139,;TVP23B,splice_region_variant,,ENST00000581733,;TVP23B,splice_region_variant,,ENST00000575261,;TVP23B,missense_variant,p.His33Asn,ENST00000574294,;TVP23B,intron_variant,,ENST00000571018,;TVP23B,intron_variant,,ENST00000572845,;TVP23B,upstream_gene_variant,,ENST00000482741,;TVP23B,downstream_gene_variant,,ENST00000582288,;							MODERATE	97/618	H33N	TV23B_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000305654		CCDS42274.1			1	
SLC17A3	0	LGGM	GRCh37	6	25868535	25868535	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	11	4	.	.	ENST00000397060.4:c.81C>A	p.Ile27=	p.I27=	ENST00000397060	NM_001098486.1	27	atC/atA	0	1		UPI000006FCFB	0		ENST00000360657		ENSG00000124564	10931		15			HGNC	p.I27I		SLC17A3		SNV			1				ENST00000360657	protein_coding			PIRSF_domain:PIRSF038072,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF134		I		T		367/1750				H0Y9F7_HUMAN				SLC17A3,synonymous_variant,p.=,ENST00000397060,NM_001098486.1;SLC17A3,synonymous_variant,p.=,ENST00000360657,;SLC17A3,synonymous_variant,p.=,ENST00000361703,NM_006632.3;SLC17A3,synonymous_variant,p.=,ENST00000506105,;SLC17A3,synonymous_variant,p.=,ENST00000449356,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000509714,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000503922,;SLC17A3,non_coding_transcript_exon_variant,,ENST00000308453,;							LOW	81/1263		NPT4_HUMAN			Transcript			.	ENSP00000353873		CCDS4566.2			1	
PABPC5	0	LGGM	GRCh37	X	90690790	90690790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	45	4	.	.	ENST00000312600.3:c.214G>T	p.Ala72Ser	p.A72S	ENST00000312600	NM_080832.2	72	Gca/Tca	0	1	1	UPI0000087790	0	getma.org/pdb.php?prot=PABP5_HUMAN&from=20&to=90&var=A72S	ENST00000312600		ENSG00000174740	13629		49	3.18		HGNC	p.A72S		PABPC5		SNV							ENST00000312600	protein_coding	getma.org/?cm=var&var=hg19,X,90690790,G,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		A/S		T	medium	428/3221		getma.org/?cm=msa&ty=f&p=PABP5_HUMAN&rb=20&re=90&var=A72S	deleterious(0)	Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,missense_variant,p.Ala72Ser,ENST00000312600,NM_080832.2;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;							MODERATE	214/1149	A72S	PABP5_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000308012		CCDS14460.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	72	12	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	84			HGNC	p.P55P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000399808	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
TRANK1	0	LGGM	GRCh37	3	36933734	36933734	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	45	5	.	.	ENST00000429976.2:c.602C>T	p.Pro201Leu	p.P201L	ENST00000429976		201	cCg/cTg	0	1	1	UPI00017BE82B	0	NA	ENST00000429976		ENSG00000168016	29011		50	0.345		HGNC	p.P201L		TRANK1		SNV							ENST00000429976	protein_coding	getma.org/?cm=var&var=hg19,3,36933734,G,A&fts=all		Superfamily_domains:SSF48403,Gene3D:1.25.40.20		P/L		A	neutral	850/10481		getma.org/?cm=msa&ty=f&p=TRNK1_HUMAN&rb=201&re=400&var=P201L	tolerated(0.05)	B7WP88_HUMAN			YES	TRANK1,missense_variant,p.Pro201Leu,ENST00000429976,;TRANK1,5_prime_UTR_variant,,ENST00000301807,NM_014831.2;TRANK1,non_coding_transcript_exon_variant,,ENST00000505962,;							MODERATE	602/8778	P201L	TRNK1_HUMAN			Transcript		benign(0.01)	.	ENSP00000416168		CCDS46789.2			1	
CTNNB1	0	LGGM	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	29	16	.	.	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41A	ENST00000349496	pathogenic	ENSG00000168036	2514		45	2.445		HGNC	p.T41A	rs121913412,COSM5664	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266124,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/A		G	medium	401/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	121/2346	T41A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
TRIM46	0	LGGM	GRCh37	1	155150550	155150550	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	13	6	.	.	ENST00000334634.4:c.982C>A	p.Arg328=	p.R328=	ENST00000334634	NM_001282378.1	328	Cgg/Agg	0	1	1	UPI000022B316	0		ENST00000334634		ENSG00000163462	19019		19			HGNC	p.R335R		TRIM46		SNV							ENST00000543729	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF27		R		A		982/3061				F5GYK0_HUMAN			YES	TRIM46,synonymous_variant,p.=,ENST00000392451,;TRIM46,synonymous_variant,p.=,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,synonymous_variant,p.=,ENST00000334634,NM_001282378.1,NM_001256601.1;TRIM46,synonymous_variant,p.=,ENST00000368383,;TRIM46,synonymous_variant,p.=,ENST00000545012,;TRIM46,synonymous_variant,p.=,ENST00000368385,NM_001282379.1;TRIM46,synonymous_variant,p.=,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,;							LOW	982/2280		TRI46_HUMAN			Transcript			.	ENSP00000334657		CCDS1097.1			1	
TMEM100	0	LGGM	GRCh37	17	53798287	53798287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	66	6	.	.	ENST00000575734.1:c.145A>G	p.Thr49Ala	p.T49A	ENST00000575734	NM_001099640.1	49	Acc/Gcc	0	1		UPI000004A0C2	0	NA	ENST00000424486		ENSG00000166292	25607		72	-1.625		HGNC	p.T49A		TMEM100		SNV							ENST00000424486	protein_coding	getma.org/?cm=var&var=hg19,17,53798287,T,C&fts=all		hmmpanther:PTHR16100,hmmpanther:PTHR16100:SF2,Pfam_domain:PF15099		T/A		C	neutral	448/1747		getma.org/?cm=msa&ty=f&p=TM100_HUMAN&rb=35&re=132&var=T49A	tolerated(1)					TMEM100,missense_variant,p.Thr49Ala,ENST00000575734,NM_001099640.1;TMEM100,missense_variant,p.Thr49Ala,ENST00000424486,NM_018286.2;TMEM100,missense_variant,p.Thr49Ala,ENST00000571679,;TMEM100,downstream_gene_variant,,ENST00000570586,;TMEM100,downstream_gene_variant,,ENST00000575685,;TMEM100,downstream_gene_variant,,ENST00000575806,;							MODERATE	145/405	T49A	TM100_HUMAN			Transcript		benign(0)	.	ENSP00000395328		CCDS11587.1			1	
RIMS1	0	LGGM	GRCh37	6	73000521	73000521	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	80	6	.	.	ENST00000521978.1:c.3694C>G	p.Leu1232Val	p.L1232V	ENST00000521978	NM_014989.5	1232	Ctt/Gtt	0	1	1	UPI00001908FB	0	NA	ENST00000521978		ENSG00000079841	17282		86	0		HGNC	p.L1232V		RIMS1		SNV			1				ENST00000521978	protein_coding	getma.org/?cm=var&var=hg19,6,73000521,C,G&fts=all		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19		L/V		G	neutral	3694/5079		getma.org/?cm=msa&ty=f&p=RIMS1_HUMAN&rb=1051&re=1250&var=L1232V	tolerated(0.06)				YES	RIMS1,missense_variant,p.Leu1232Val,ENST00000521978,NM_014989.5;RIMS1,intron_variant,,ENST00000264839,;RIMS1,intron_variant,,ENST00000348717,;RIMS1,intron_variant,,ENST00000491071,;RIMS1,intron_variant,,ENST00000520567,;RIMS1,intron_variant,,ENST00000517960,;RIMS1,intron_variant,,ENST00000518273,;RIMS1,intron_variant,,ENST00000522291,;RIMS1,intron_variant,,ENST00000401910,NM_001168407.1;RIMS1,intron_variant,,ENST00000517433,;RIMS1,intron_variant,,ENST00000523963,NM_001168408.1;RIMS1,intron_variant,,ENST00000517827,NM_001168410.1;RIMS1,intron_variant,,ENST00000425662,NM_001168409.1;RIMS1,intron_variant,,ENST00000453976,;RIMS1,intron_variant,,ENST00000522211,;RIMS1,intron_variant,,ENST00000538414,;RIMS1,intron_variant,,ENST00000370420,;RIMS1,intron_variant,,ENST00000463023,;							MODERATE	3694/5079	L1232V	RIMS1_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000428417		CCDS47449.1			1	
WDR96	0	LGGM	GRCh37	10	105900694	105900694	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	39	6	.	.	ENST00000357060.3:c.4337A>G	p.Gln1446Arg	p.Q1446R	ENST00000357060	NM_025145.5	1446	cAa/cGa	0	1	1	UPI0000D60FC7	0	NA	ENST00000357060		ENSG00000197748	26684		45	2.36		HGNC	p.Q1418R		WDR96		SNV							ENST00000428666	protein_coding	getma.org/?cm=var&var=hg19,10,105900694,T,C&fts=all		hmmpanther:PTHR14885		Q/R		C	medium	4453/5365		getma.org/?cm=msa&ty=f&p=WDR96_HUMAN&rb=1401&re=1600&var=Q1446R	deleterious(0)				YES	WDR96,missense_variant,p.Gln1446Arg,ENST00000357060,NM_025145.5;WDR96,missense_variant,p.Gln1418Arg,ENST00000428666,;WDR96,missense_variant,p.Gln778Arg,ENST00000434629,;WDR96,missense_variant,p.Gln295Arg,ENST00000457071,;WDR96,non_coding_transcript_exon_variant,,ENST00000479392,;							MODERATE	4337/4998	Q1446R	WDR96_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000349568		CCDS31281.1			1	
AMD1	0	LGGM	GRCh37	6	111210171	111210171	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	56	7	.	.	ENST00000368885.3:c.309G>A	p.Gly103=	p.G103=	ENST00000368885	NM_001634.4	103	ggG/ggA	0	1	1	UPI0000140D27	0		ENST00000368885		ENSG00000123505	457		63			HGNC	p.G34G		AMD1		SNV							ENST00000368876	protein_coding			Superfamily_domains:SSF56276,PIRSF_domain:PIRSF001355,Gene3D:3.60.90.10,Pfam_domain:PF01536,TIGRFAM_domain:TIGR00535,hmmpanther:PTHR11570		G		A		645/3438				Q5VXN5_HUMAN			YES	AMD1,synonymous_variant,p.=,ENST00000368885,NM_001634.4,NM_001287215.1;AMD1,synonymous_variant,p.=,ENST00000368876,NM_001287214.1;AMD1,synonymous_variant,p.=,ENST00000368877,;AMD1,intron_variant,,ENST00000368882,NM_001033059.1;AMD1,intron_variant,,ENST00000451850,;AMD1,upstream_gene_variant,,ENST00000465404,;							LOW	309/1005		DCAM_HUMAN			Transcript			.	ENSP00000357880		CCDS5086.1			1	
LAX1	0	LGGM	GRCh37	1	203734715	203734715	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	37	7	.	.	ENST00000442561.2:c.22C>T	p.Leu8Phe	p.L8F	ENST00000442561	NM_017773.3	8	Ctt/Ttt	0	1	1	UPI000007446D	0	NA	ENST00000442561		ENSG00000122188	26005		44	0.345		HGNC	p.L8F		LAX1		SNV							ENST00000442561	protein_coding	getma.org/?cm=var&var=hg19,1,203734715,C,T&fts=all		hmmpanther:PTHR24091		L/F		T	neutral	412/3023		getma.org/?cm=msa&ty=f&p=LAX1_HUMAN&rb=1&re=43&var=L8F	tolerated(0.73)				YES	LAX1,missense_variant,p.Leu8Phe,ENST00000442561,NM_017773.3;LAX1,intron_variant,,ENST00000367217,NM_001136190.1;LAX1,upstream_gene_variant,,ENST00000367215,;							MODERATE	22/1197	L8F	LAX1_HUMAN			Transcript		benign(0.004)	.	ENSP00000406970		CCDS1441.2			1	
STON1	0	LGGM	GRCh37	2	48756706	48756706	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	17	7	.	.	ENST00000484110.1:n.185A>G		*62*	ENST00000484110				0	1		UPI000006E627	0		ENST00000404752		ENSG00000243244	17003		24		604	HGNC	p.M1V		STON1		SNV							ENST00000378305	protein_coding							G		-/5511								STON1,upstream_gene_variant,,ENST00000406226,NM_001198595.1;STON1,upstream_gene_variant,,ENST00000404752,NM_006873.3;STON1-GTF2A1L,upstream_gene_variant,,ENST00000405008,;STON1-GTF2A1L,upstream_gene_variant,,ENST00000402114,NM_001198593.1;STON1,non_coding_transcript_exon_variant,,ENST00000484110,;							MODIFIER	-/2208		STON1_HUMAN			Transcript			.	ENSP00000385273		CCDS1841.1			1	
LAMA2	0	LGGM	GRCh37	6	129794386	129794386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	29	7	.	.	ENST00000421865.2:c.7328C>T	p.Thr2443Ile	p.T2443I	ENST00000421865	NM_001079823.1	2443	aCt/aTt	0	1	1	UPI00003673E0	0	getma.org/pdb.php?prot=LAMA2_HUMAN&from=2368&to=2507&var=T2443I	ENST00000421865		ENSG00000196569	6482		36	1.965		HGNC	p.T2443I		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129794386,C,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00282,Superfamily_domains:SSF49899		T/I		T	medium	7377/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=2368&re=2507&var=T2443I	deleterious(0.01)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Thr2443Ile,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	7328/9369	T2443I	LAMA2_HUMAN			Transcript		possibly_damaging(0.799)	.	ENSP00000400365		CCDS5138.1			1	
TUBGCP6	0	LGGM	GRCh37	22	50658162	50658163	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H050227	H050227N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	4	7	.	.	ENST00000248846.5:c.4225_4226insA	p.Ala1409AspfsTer60	p.A1409Dfs*60	ENST00000248846		1409	gcg/gAcg	0	1	1	UPI000013CC55	0		ENST00000248846		ENSG00000128159	18127		11			HGNC	p.R1429fs		TUBGCP6		insertion			1				ENST00000439308	protein_coding			Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32,Low_complexity_(Seg):seg		A/DX		T		4330-4331/5612							YES	TUBGCP6,frameshift_variant,p.Arg1429ThrfsTer412,ENST00000439308,NM_020461.3;TUBGCP6,frameshift_variant,p.Ala1409AspfsTer60,ENST00000248846,;TUBGCP6,frameshift_variant,p.Ala95AspfsTer60,ENST00000425018,;SELO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;							HIGH	4225-4226/5460		GCP6_HUMAN			Transcript			.	ENSP00000248846		CCDS14087.1			1	
LMNB2	0	LGGM	GRCh37	19	2438466	2438466	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	9	8	.	.	ENST00000325327.3:c.465G>T	p.Leu155=	p.L155=	ENST00000325327		155	ctG/ctT	0	1		UPI000012E207	0		ENST00000582871		ENSG00000176619	6638		17			HGNC	p.L135L		LMNB2		SNV			1				ENST00000582871	protein_coding			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF152		L		A		492/4634								LMNB2,synonymous_variant,p.=,ENST00000325327,;LMNB2,synonymous_variant,p.=,ENST00000582871,NM_032737.3;LMNB2,upstream_gene_variant,,ENST00000527409,;LMNB2,upstream_gene_variant,,ENST00000532465,;LMNB2,upstream_gene_variant,,ENST00000534495,;LMNB2,upstream_gene_variant,,ENST00000490554,;							LOW	405/1803		LMNB2_HUMAN			Transcript			.	ENSP00000462730					1	
EDIL3	0	LGGM	GRCh37	5	83525682	83525682	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	63	8	.	.	ENST00000296591.5:c.217A>G	p.Thr73Ala	p.T73A	ENST00000296591	NM_005711.4	73	Act/Gct	0	1	1	UPI000004D126	0	getma.org/pdb.php?prot=EDIL3_HUMAN&from=59&to=77&var=T73A	ENST00000296591		ENSG00000164176	3173		71	0.895		HGNC	p.T73A		EDIL3		SNV							ENST00000296591	protein_coding	getma.org/?cm=var&var=hg19,5,83525682,T,C&fts=all		hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127		T/A		C	low	636/4727		getma.org/?cm=msa&ty=f&p=EDIL3_HUMAN&rb=29&re=107&var=T73A	deleterious(0.02)				YES	EDIL3,missense_variant,p.Thr73Ala,ENST00000296591,NM_005711.4;EDIL3,intron_variant,,ENST00000380138,NM_001278642.1;							MODERATE	217/1443	T73A	EDIL3_HUMAN			Transcript		benign(0.01)	.	ENSP00000296591		CCDS4062.1			1	
ZMAT1	0	LGGM	GRCh37	X	101139309	101139309	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	187	8	.	.	ENST00000372782.3:c.1090T>G	p.Tyr364Asp	p.Y364D	ENST00000372782	NM_001011657.3	364	Tac/Gac	0	1	1	UPI0000198414	0	NA	ENST00000372782		ENSG00000166432	29377		195	2.31		HGNC	p.Y364D		ZMAT1		SNV							ENST00000372782	protein_coding	getma.org/?cm=var&var=hg19,X,101139309,A,C&fts=all		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14		Y/D		C	medium	1138/3185		getma.org/?cm=msa&ty=f&p=ZMAT1_HUMAN&rb=200&re=399&var=Y364D	deleterious(0.01)				YES	ZMAT1,missense_variant,p.Tyr364Asp,ENST00000372782,NM_001011657.3;ZMAT1,missense_variant,p.Tyr193Asp,ENST00000458570,NM_001282401.1;ZMAT1,missense_variant,p.Tyr364Asp,ENST00000540921,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,;ZMAT1,downstream_gene_variant,,ENST00000490757,;							MODERATE	1090/1917	Y364D	ZMAT1_HUMAN			Transcript		possibly_damaging(0.718)	.	ENSP00000361868		CCDS35348.1			1	
ZNF117	0	LGGM	GRCh37	7	64439797	64439797	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	33	9	.	.	ENST00000282869.6:c.152A>G	p.Lys51Arg	p.K51R	ENST00000282869	NM_015852.3	51	aAa/aGa	0	1	1	UPI000049E07A	0	NA	ENST00000282869		ENSG00000152926	12897		42	3.28		HGNC	p.K51R		ZNF117		SNV							ENST00000282869	protein_coding	getma.org/?cm=var&var=hg19,7,64439797,T,C&fts=all		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF120		K/R		C	medium	1437/9080		getma.org/?cm=msa&ty=f&p=ZN117_HUMAN&rb=1&re=107&var=K51R	deleterious(0.02)				YES	ZNF117,missense_variant,p.Lys51Arg,ENST00000282869,NM_015852.3;ZNF117,downstream_gene_variant,,ENST00000487644,;							MODERATE	152/1452	K51R	ZN117_HUMAN			Transcript		benign(0.411)	.	ENSP00000282869		CCDS43593.1			1	
IHH	0	LGGM	GRCh37	2	219920526	219920526	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	15	9	.	.	ENST00000295731.6:c.639G>A	p.Glu213=	p.E213=	ENST00000295731	NM_002181.3	213	gaG/gaA	0	1	1	UPI0000035883	0		ENST00000295731		ENSG00000163501	5956		24			HGNC	p.E213E	COSM3577876	IHH		SNV			1			1	ENST00000295731	protein_coding			Gene3D:2.170.16.10,Pfam_domain:PF01079,PIRSF_domain:PIRSF009400,PROSITE_profiles:PS50817,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF39,SMART_domains:SM00306,Superfamily_domains:SSF51294		E		T		639/2023				Q4ZFW8_HUMAN			YES	IHH,synonymous_variant,p.=,ENST00000295731,NM_002181.3;MIR3131,downstream_gene_variant,,ENST00000583592,;					1		LOW	639/1236		IHH_HUMAN			Transcript			.	ENSP00000295731		CCDS33380.1			1	
STXBP5	0	LGGM	GRCh37	6	147680424	147680424	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	28	10	.	.	ENST00000321680.6:c.2510A>G	p.Gln837Arg	p.Q837R	ENST00000321680	NM_001127715.2	837	cAa/cGa	0	1	1	UPI0000199FE0	0	NA	ENST00000321680		ENSG00000164506	19665		38	1.11		HGNC	p.Q837R		STXBP5		SNV							ENST00000321680	protein_coding	getma.org/?cm=var&var=hg19,6,147680424,A,G&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22		Q/R		G	low	2510/3456		getma.org/?cm=msa&ty=f&p=STXB5_HUMAN&rb=665&re=864&var=Q837R	tolerated(0.29)				YES	STXBP5,missense_variant,p.Gln801Arg,ENST00000367481,NM_139244.4;STXBP5,missense_variant,p.Gln492Arg,ENST00000179882,;STXBP5,missense_variant,p.Gln837Arg,ENST00000321680,NM_001127715.2;STXBP5,missense_variant,p.Gln784Arg,ENST00000367480,;STXBP5,missense_variant,p.Gln161Arg,ENST00000392291,;STXBP5,missense_variant,p.Gln163Arg,ENST00000367475,;							MODERATE	2510/3456	Q837R	STXB5_HUMAN			Transcript		benign(0.04)	.	ENSP00000321826		CCDS47499.1			1	
SPTBN5	0	LGGM	GRCh37	15	42167040	42167040	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	8	11	.	.	ENST00000320955.6:c.4502G>A	p.Arg1501Lys	p.R1501K	ENST00000320955	NM_016642.3	1501	aGg/aAg	0	1	1	UPI0000E59BE4	0	NA	ENST00000320955		ENSG00000137877	15680		19	2.045		HGNC	p.R1501K		SPTBN5		SNV							ENST00000320955	protein_coding	getma.org/?cm=var&var=hg19,15,42167040,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/K		T	medium	4730/11722		getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=1418&re=1519&var=R1501K					YES	SPTBN5,missense_variant,p.Arg1501Lys,ENST00000320955,NM_016642.3;							MODERATE	4502/11025	R1501K	SPTN5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000317790		CCDS61599.1			1	
GLIS1	0	LGGM	GRCh37	1	54060042	54060042	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	13	11	.	.	ENST00000312233.2:c.534C>T	p.Ser178=	p.S178=	ENST00000312233	NM_147193.2	178	agC/agT	0	1	1	UPI000013F293	0		ENST00000312233		ENSG00000174332	29525		24			HGNC	p.S178S		GLIS1		SNV							ENST00000312233	protein_coding			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF75,Low_complexity_(Seg):seg		S		A		1101/2812							YES	GLIS1,synonymous_variant,p.=,ENST00000312233,NM_147193.2;							LOW	534/1863		GLIS1_HUMAN			Transcript			.	ENSP00000309653		CCDS582.1			1	
PTCD2	0	LGGM	GRCh37	5	71654182	71654182	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	22	11	.	.	ENST00000380639.5:c.1095G>T	p.Thr365=	p.T365=	ENST00000380639	NM_024754.3	365	acG/acT	0	1		UPI000066D9F8	0		ENST00000308077		ENSG00000049883	25734		33			HGNC	p.T193T		PTCD2		SNV							ENST00000536805	nonsense_mediated_decay			hmmpanther:PTHR14700		T		T		1105/2195				D6RGK0_HUMAN,B3KPU6_HUMAN				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,downstream_gene_variant,,ENST00000543322,;CTC-365E16.1,upstream_gene_variant,,ENST00000606310,;PTCD2,non_coding_transcript_exon_variant,,ENST00000460837,;PTCD2,synonymous_variant,p.=,ENST00000308077,;PTCD2,3_prime_UTR_variant,,ENST00000486995,;PTCD2,3_prime_UTR_variant,,ENST00000503315,;							LOW	1095/1167		PTCD2_HUMAN			Transcript			.	ENSP00000308948		CCDS4014.2			1	
TMPO	0	LGGM	GRCh37	12	98925599	98925599	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	57	12	.	.	ENST00000266732.4:c.548A>G	p.Tyr183Cys	p.Y183C	ENST00000266732	NM_003276.2	183	tAc/tGc	0	1	1	UPI000013D709	0	NA	ENST00000266732		ENSG00000120802	11875		69	1.845		HGNC	p.Y183C		TMPO		SNV			1				ENST00000261210	protein_coding	getma.org/?cm=var&var=hg19,12,98925599,A,G&fts=all		hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF7		Y/C		G	low	786/3615		getma.org/?cm=msa&ty=f&p=LAP2A_HUMAN&rb=153&re=190&var=Y183C	deleterious_low_confidence(0.01)				YES	TMPO,missense_variant,p.Tyr183Cys,ENST00000556029,NM_001032283.2;TMPO,missense_variant,p.Tyr183Cys,ENST00000266732,NM_003276.2;TMPO,missense_variant,p.Tyr183Cys,ENST00000343315,;TMPO,missense_variant,p.Tyr183Cys,ENST00000393053,NM_001032284.2;TMPO,missense_variant,p.Tyr183Cys,ENST00000261210,;TMPO,missense_variant,p.Tyr90Cys,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000547214,;TMPO,non_coding_transcript_exon_variant,,ENST00000549938,;TMPO,downstream_gene_variant,,ENST00000546828,;TMPO,downstream_gene_variant,,ENST00000548911,;TMPO,non_coding_transcript_exon_variant,,ENST00000552831,;							MODERATE	548/2085	Y183C	LAP2A_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000266732		CCDS9064.1			1	
C4orf45	0	LGGM	GRCh37	4	159894398	159894398	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	113	12	.	.	ENST00000434826.2:c.130C>A	p.His44Asn	p.H44N	ENST00000434826	NM_152543.2	44	Cat/Aat	0	1	1	UPI000022C48A	0	NA	ENST00000434826		ENSG00000164123	26342		125	0.69		HGNC	p.H44N		C4orf45		SNV							ENST00000434826	protein_coding	getma.org/?cm=var&var=hg19,4,159894398,G,T&fts=all		Pfam_domain:PF15123		H/N		T	neutral	215/1215		getma.org/?cm=msa&ty=f&p=CD045_HUMAN&rb=1&re=183&var=H44N	tolerated(0.16)				YES	C4orf45,missense_variant,p.His44Asn,ENST00000434826,NM_152543.2;C4orf45,non_coding_transcript_exon_variant,,ENST00000508011,;C4orf45,upstream_gene_variant,,ENST00000505647,;							MODERATE	130/561	H44N	CD045_HUMAN			Transcript		benign(0.125)	.	ENSP00000412215		CCDS47156.1			1	
ZPLD1	0	LGGM	GRCh37	3	102189305	102189305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	21	13	.	.	ENST00000306176.1:c.1049G>A	p.Gly350Asp	p.G350D	ENST00000306176	NM_175056.1	350	gGc/gAc	0	1		UPI0000209EBE	0	NA	ENST00000466937		ENSG00000170044	27022		34	0.425		HGNC	p.G334D		ZPLD1		SNV							ENST00000466937	protein_coding	getma.org/?cm=var&var=hg19,3,102189305,G,A&fts=all		hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962		G/D		A	neutral	1245/1531		getma.org/?cm=msa&ty=f&p=ZPLD1_HUMAN&rb=317&re=415&var=G334D	tolerated(0.5)					ZPLD1,missense_variant,p.Gly350Asp,ENST00000306176,NM_175056.1;ZPLD1,missense_variant,p.Gly334Asp,ENST00000491959,;ZPLD1,missense_variant,p.Gly334Asp,ENST00000466937,;							MODERATE	1001/1248	G334D	ZPLD1_HUMAN			Transcript		benign(0.263)	.	ENSP00000418253					1	
DRP2	0	LGGM	GRCh37	X	100509518	100509518	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	49	14	.	.	ENST00000395209.3:c.2082G>A	p.Val694=	p.V694=	ENST00000395209	NM_001939.2	694	gtG/gtA	0	1	1	UPI000013D388	0		ENST00000395209		ENSG00000102385	3032		63			HGNC	p.V694V		DRP2		SNV							ENST00000395209	protein_coding			hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205		V		A		2609/7277							YES	DRP2,synonymous_variant,p.=,ENST00000395209,NM_001939.2;DRP2,synonymous_variant,p.=,ENST00000402866,;DRP2,synonymous_variant,p.=,ENST00000538510,;DRP2,synonymous_variant,p.=,ENST00000541709,NM_001171184.1;DRP2,downstream_gene_variant,,ENST00000372916,;							LOW	2082/2874		DRP2_HUMAN			Transcript			.	ENSP00000378635		CCDS14480.2			1	
ATF1	0	LGGM	GRCh37	12	51207807	51207807	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	31	14	.	.	ENST00000262053.3:c.343A>C	p.Asn115His	p.N115H	ENST00000262053	NM_005171.4	115	Aat/Cat	0	1	1	UPI0000126227	0	NA	ENST00000262053		ENSG00000123268	783		45	2.08		HGNC	p.Q36H		ATF1		SNV			1				ENST00000551831	protein_coding	getma.org/?cm=var&var=hg19,12,51207807,A,C&fts=all		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF99		N/H		C	medium	365/2181		getma.org/?cm=msa&ty=f&p=ATF1_HUMAN&rb=84&re=210&var=N115H	deleterious(0.03)	F8VYN3_HUMAN,F8VS03_HUMAN,B4DRF9_HUMAN			YES	ATF1,missense_variant,p.Asn115His,ENST00000262053,NM_005171.4;ATF1,missense_variant,p.Asn115His,ENST00000552487,;ATF1,missense_variant,p.Asn115His,ENST00000552510,;ATF1,5_prime_UTR_variant,,ENST00000539132,;ATF1,missense_variant,p.Gln36His,ENST00000551831,;ATF1,downstream_gene_variant,,ENST00000549612,;							MODERATE	343/816	N115H	ATF1_HUMAN			Transcript		possibly_damaging(0.613)	.	ENSP00000262053		CCDS8803.1			1	
GLI2	0	LGGM	GRCh37	2	121728058	121728058	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	40	15	.	.	ENST00000452319.1:c.935A>G	p.His312Arg	p.H312R	ENST00000452319		312	cAc/cGc	0	1		UPI000053FCB4	0	NA	ENST00000361492		ENSG00000074047	4318		55	2.52		HGNC	p.H312R		GLI2		SNV			1				ENST00000361492	protein_coding	getma.org/?cm=var&var=hg19,2,121728058,A,G&fts=all		hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818		H/R		G	medium	965/6768		getma.org/?cm=msa&ty=f&p=GLI2_HUMAN&rb=1&re=394&var=H312R	deleterious(0)	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN				GLI2,missense_variant,p.His312Arg,ENST00000452319,;GLI2,missense_variant,p.His312Arg,ENST00000361492,NM_005270.4;GLI2,synonymous_variant,p.=,ENST00000360874,;GLI2,5_prime_UTR_variant,,ENST00000314490,;GLI2,non_coding_transcript_exon_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,;GLI2,3_prime_UTR_variant,,ENST00000433812,;							MODERATE	935/4761	H312R	GLI2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000354586		CCDS33283.1			1	
DNAAF1	0	LGGM	GRCh37	16	84209869	84209869	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	11	15	.	.	ENST00000378553.5:c.2029G>C	p.Asp677His	p.D677H	ENST00000378553	NM_178452.4	677	Gac/Cac	0	1	1	UPI000059D3C9	0	NA	ENST00000378553		ENSG00000154099	30539		26	1.59		HGNC	p.D111H		DNAAF1		SNV			1				ENST00000569735	protein_coding	getma.org/?cm=var&var=hg19,16,84209869,G,C&fts=all				D/H		C	low	2153/2379		getma.org/?cm=msa&ty=f&p=DAAF1_HUMAN&rb=601&re=725&var=D677H	deleterious(0)	H3BP51_HUMAN			YES	DNAAF1,missense_variant,p.Asp677His,ENST00000378553,NM_178452.4;DNAAF1,missense_variant,p.Asp111His,ENST00000569735,;DNAAF1,missense_variant,p.Asp42His,ENST00000564928,;TAF1C,downstream_gene_variant,,ENST00000567759,NM_005679.3;TAF1C,downstream_gene_variant,,ENST00000378541,;TAF1C,downstream_gene_variant,,ENST00000541676,NM_139353.2,NM_001243159.1;TAF1C,downstream_gene_variant,,ENST00000341690,;TAF1C,downstream_gene_variant,,ENST00000566732,NM_001243156.1;TAF1C,downstream_gene_variant,,ENST00000570117,NM_001243158.1,NM_001243157.1;TAF1C,downstream_gene_variant,,ENST00000568265,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000563818,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000562024,;TAF1C,downstream_gene_variant,,ENST00000564774,;TAF1C,downstream_gene_variant,,ENST00000564208,;TAF1C,downstream_gene_variant,,ENST00000544090,;TAF1C,downstream_gene_variant,,ENST00000566903,;TAF1C,downstream_gene_variant,,ENST00000563428,;DNAAF1,downstream_gene_variant,,ENST00000563093,;							MODERATE	2029/2178	D677H	DAAF1_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000367815		CCDS10943.2			1	
USP34	0	LGGM	GRCh37	2	61610407	61610407	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	36	15	.	.	ENST00000398571.2:c.818T>C	p.Ile273Thr	p.I273T	ENST00000398571	NM_014709.3	273	aTt/aCt	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		51	1.355		HGNC	p.I273T	rs756245962	USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61610407,A,G&fts=all				I/T		G	low	895/11357	1.51E-05	getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=201&re=400&var=I273T	deleterious(0)				YES	USP34,missense_variant,p.Ile273Thr,ENST00000398571,NM_014709.3;USP34,3_prime_UTR_variant,,ENST00000453133,;							MODERATE	818/10641	I273T	UBP34_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000381577	8.28E-06	CCDS42686.1			1	
HHIPL2	0	LGGM	GRCh37	1	222717211	222717211	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	38	17	.	.	ENST00000343410.6:c.642C>A	p.Asn214Lys	p.N214K	ENST00000343410	NM_024746.3	214	aaC/aaA	0	1	1	UPI000004C60D	0	NA	ENST00000343410		ENSG00000143512	25842		55	2.785		HGNC	p.N214K		HHIPL2		SNV							ENST00000343410	protein_coding	getma.org/?cm=var&var=hg19,1,222717211,G,T&fts=all		Superfamily_domains:0046203,Gene3D:2.120.10.30,hmmpanther:PTHR19328:SF31,hmmpanther:PTHR19328		N/K		T	medium	701/2575		getma.org/?cm=msa&ty=f&p=HIPL2_HUMAN&rb=177&re=245&var=N214K	tolerated(0.06)				YES	HHIPL2,missense_variant,p.Asn214Lys,ENST00000343410,NM_024746.3;HHIPL2,upstream_gene_variant,,ENST00000494899,;							MODERATE	642/2175	N214K	HIPL2_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000342118		CCDS1530.2			1	
ZRSR2	0	LGGM	GRCh37	X	15834007	15834007	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	8	17	.	.	ENST00000307771.7:c.765G>T	p.Gln255His	p.Q255H	ENST00000307771	NM_005089.3	255	caG/caT	0	1	1	UPI0000137929	0	getma.org/pdb.php?prot=U2AFM_HUMAN&from=243&to=302&var=Q255H	ENST00000307771		ENSG00000169249	23019		25	0.605		HGNC	p.Q255H		ZRSR2		SNV							ENST00000307771	protein_coding	getma.org/?cm=var&var=hg19,X,15834007,G,T&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR12620:SF6,hmmpanther:PTHR12620,Pfam_domain:PF13893,Gene3D:3.30.70.330,SMART_domains:SM00361,Superfamily_domains:SSF54928		Q/H		T	neutral	789/1491		getma.org/?cm=msa&ty=f&p=U2AFM_HUMAN&rb=243&re=302&var=Q255H	deleterious(0)				YES	ZRSR2,missense_variant,p.Gln255His,ENST00000307771,NM_005089.3;							MODERATE	765/1449	Q255H	U2AFM_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000303015		CCDS14172.1			1	
TGFBR3	0	LGGM	GRCh37	1	92178000	92178000	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	44	18	.	.	ENST00000212355.4:c.1966A>G	p.Ile656Val	p.I656V	ENST00000212355	NM_001195683.1	656	Att/Gtt	0	1	1	UPI000049D997	0	getma.org/pdb.php?prot=TGBR3_HUMAN&from=455&to=726&var=I656V	ENST00000212355		ENSG00000069702	11774		62	2.14		HGNC	p.I655V		TGFBR3		SNV			1				ENST00000465892	protein_coding	getma.org/?cm=var&var=hg19,1,92178000,T,C&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5,PROSITE_patterns:PS00682,Pfam_domain:PF00100,SMART_domains:SM00241,Prints_domain:PR00023		I/V		C	medium	2432/6416		getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=455&re=726&var=I656V	deleterious(0)	E9PAW7_HUMAN			YES	TGFBR3,missense_variant,p.Ile656Val,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ile655Val,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ile656Val,ENST00000525962,;TGFBR3,missense_variant,p.Ile655Val,ENST00000465892,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;TGFBR3,intron_variant,,ENST00000533089,;TGFBR3,upstream_gene_variant,,ENST00000470600,;							MODERATE	1966/2556	I656V	TGBR3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000212355		CCDS30770.1			1	
C11orf40	0	LGGM	GRCh37	11	4593433	4593433	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	33	19	.	.	ENST00000307616.1:c.400T>C	p.Cys134Arg	p.C134R	ENST00000307616	NM_144663.1	134	Tgt/Cgt	0	1	1	UPI0000073B2B	0	NA	ENST00000307616		ENSG00000171987	23986		52	0		HGNC	p.C134R		C11orf40		SNV							ENST00000307616	protein_coding	getma.org/?cm=var&var=hg19,11,4593433,A,G&fts=all				C/R		G	neutral	400/654		getma.org/?cm=msa&ty=f&p=CK040_HUMAN&rb=1&re=200&var=C134R	deleterious_low_confidence(0)				YES	C11orf40,missense_variant,p.Cys134Arg,ENST00000307616,NM_144663.1;							MODERATE	400/654	C134R	CK040_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000302918		CCDS31354.1			1	
C2orf40	0	LGGM	GRCh37	2	106690391	106690391	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	93	19	.	.	ENST00000238044.3:c.177A>T	p.Lys59Asn	p.K59N	ENST00000238044	NM_032411.2	59	aaA/aaT	0	1	1	UPI000004220E	0	NA	ENST00000238044		ENSG00000119147	24642		112	1.445		HGNC	p.K59N		C2orf40		SNV							ENST00000238044	protein_coding	getma.org/?cm=var&var=hg19,2,106690391,A,T&fts=all		hmmpanther:PTHR31613,Pfam_domain:PF15187		K/N		T	low	286/789		getma.org/?cm=msa&ty=f&p=AUGN_HUMAN&rb=4&re=146&var=K59N	deleterious(0.04)	B8ZZE5_HUMAN			YES	C2orf40,missense_variant,p.Lys23Asn,ENST00000409944,;C2orf40,missense_variant,p.Lys59Asn,ENST00000238044,NM_032411.2;C2orf40,missense_variant,p.Lys61Asn,ENST00000437659,;C2orf40,non_coding_transcript_exon_variant,,ENST00000489174,;C2orf40,downstream_gene_variant,,ENST00000493478,;C2orf40,non_coding_transcript_exon_variant,,ENST00000479337,;							MODERATE	177/447	K59N	AUGN_HUMAN			Transcript		benign(0.017)	.	ENSP00000238044		CCDS2072.1			1	
CRY1	0	LGGM	GRCh37	12	107393479	107393479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	42	19	.	.	ENST00000008527.5:c.987A>T	p.Lys329Asn	p.K329N	ENST00000008527	NM_004075.4	329	aaA/aaT	0	1	1	UPI0000073E80	0	getma.org/pdb.php?prot=CRY1_HUMAN&from=212&to=488&var=K329N	ENST00000008527		ENSG00000008405	2384		61	3.02		HGNC	p.K329N		CRY1		SNV							ENST00000008527	protein_coding	getma.org/?cm=var&var=hg19,12,107393479,T,A&fts=all		Gene3D:1owlA03,Pfam_domain:PF03441,hmmpanther:PTHR11455,hmmpanther:PTHR11455:SF16,Superfamily_domains:SSF48173		K/N		A	medium	1855/3267		getma.org/?cm=msa&ty=f&p=CRY1_HUMAN&rb=212&re=488&var=K329N	deleterious(0.02)	H0YHT0_HUMAN,A2I2P0_HUMAN			YES	CRY1,missense_variant,p.Lys329Asn,ENST00000008527,NM_004075.4;CRY1,upstream_gene_variant,,ENST00000549356,;CRY1,non_coding_transcript_exon_variant,,ENST00000552790,;CRY1,downstream_gene_variant,,ENST00000546722,;							MODERATE	987/1761	K329N	CRY1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000008527		CCDS9112.1			1	
MEIS3	0	LGGM	GRCh37	19	47912799	47912799	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	21	20	.	.	ENST00000561293.1:c.603T>C	p.Asn201=	p.N201=	ENST00000561293		201	aaT/aaC	0	1		UPI00004C800D	0		ENST00000558555		ENSG00000105419	29537		41			HGNC	p.N184N		MEIS3		SNV							ENST00000441740	protein_coding			hmmpanther:PTHR11850:SF71,hmmpanther:PTHR11850		N		G		791/1715								MEIS3,synonymous_variant,p.=,ENST00000331559,NM_020160.2;MEIS3,synonymous_variant,p.=,ENST00000561293,;MEIS3,synonymous_variant,p.=,ENST00000561096,;MEIS3,synonymous_variant,p.=,ENST00000559524,;MEIS3,synonymous_variant,p.=,ENST00000441740,NM_001009813.2;MEIS3,synonymous_variant,p.=,ENST00000558555,;MEIS3,synonymous_variant,p.=,ENST00000560245,;MEIS3,synonymous_variant,p.=,ENST00000559338,;MEIS3,upstream_gene_variant,,ENST00000607695,;MEIS3,non_coding_transcript_exon_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;							LOW	603/1128		MEIS3_HUMAN			Transcript			.	ENSP00000454073					1	
ZNF420	0	LGGM	GRCh37	19	37581899	37581899	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	42	20	.	.	ENST00000337995.3:c.12A>G	p.Lys4=	p.K4=	ENST00000337995	NM_144689.3	4	aaA/aaG	0	1	1	UPI000007049F	0		ENST00000337995		ENSG00000197050	20649		62			HGNC	p.K4K	rs763551770	ZNF420	0.000182	SNV							ENST00000589245	protein_coding			Superfamily_domains:0044637,hmmpanther:PTHR24377		K		G		227/3535				K7ERS3_HUMAN,K7EQC9_HUMAN,K7ELF6_HUMAN			YES	ZNF420,splice_region_variant,p.=,ENST00000337995,NM_144689.3;ZNF420,splice_region_variant,p.=,ENST00000304239,;ZNF420,splice_region_variant,p.=,ENST00000589245,;ZNF420,splice_region_variant,p.=,ENST00000587029,;ZNF420,intron_variant,,ENST00000590332,;CTC-454I21.3,downstream_gene_variant,,ENST00000588873,;CTD-2293H3.1,upstream_gene_variant,,ENST00000588369,;ZNF420,splice_region_variant,p.=,ENST00000587082,;ZNF420,splice_region_variant,p.=,ENST00000589461,;							LOW	Dec-67		ZN420_HUMAN			Transcript			.	ENSP00000338770	2.47E-05	CCDS12498.1			1	
ITCH	0	LGGM	GRCh37	20	33067581	33067581	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	28	21	.	.	ENST00000262650.6:c.1928G>A	p.Arg643Lys	p.R643K	ENST00000262650		643	aGa/aAa	0	1	1	UPI00000731C2	0	getma.org/pdb.php?prot=ITCH_HUMAN&from=598&to=903&var=R643K	ENST00000262650		ENSG00000078747	13890		49	1.69		HGNC	p.R643K	COSM3799453	ITCH		SNV			1			1	ENST00000262650	protein_coding	getma.org/?cm=var&var=hg19,20,33067581,G,A&fts=all		Pfam_domain:PF00632,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66,SMART_domains:SM00119,Superfamily_domains:SSF56204		R/K		A	low	2064/3089		getma.org/?cm=msa&ty=f&p=ITCH_HUMAN&rb=598&re=903&var=R643K	deleterious(0.02)				YES	ITCH,missense_variant,p.Arg602Lys,ENST00000374864,NM_001257137.1,NM_031483.5,NM_001257138.1;ITCH,missense_variant,p.Arg643Lys,ENST00000262650,;ITCH,missense_variant,p.Arg492Lys,ENST00000535650,;ITCH,non_coding_transcript_exon_variant,,ENST00000483727,;ITCH,non_coding_transcript_exon_variant,,ENST00000461661,;FDX1P1,upstream_gene_variant,,ENST00000449115,;					1		MODERATE	1928/2712	R643K	ITCH_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000262650		CCDS58768.1			1	
UBN2	0	LGGM	GRCh37	7	138978117	138978117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	84	21	.	.	ENST00000473989.3:c.3809C>A	p.Pro1270His	p.P1270H	ENST00000473989	NM_173569.3	1270	cCc/cAc	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		105	1.75		HGNC	p.P1270H		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138978117,C,A&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		P/H		A	low	3809/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=791&re=1346&var=P1270H	deleterious_low_confidence(0)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Pro1270His,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Pro1187His,ENST00000288561,;UBN2,upstream_gene_variant,,ENST00000609762,;							MODERATE	3809/4044	P1270H	UBN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000418648		CCDS43655.2			1	
PLCG1	0	LGGM	GRCh37	20	39802651	39802651	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	42	21	.	.	ENST00000373272.2:c.3645G>A	p.Lys1215=	p.K1215=	ENST00000373272	NM_002660.2	1215	aaG/aaA	0	1		UPI0000131AA5	0		ENST00000373271		ENSG00000124181	9065		63			HGNC	p.K1215K		PLCG1		SNV							ENST00000244007	protein_coding			PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52		K		A		4050/5490								PLCG1,splice_region_variant,p.=,ENST00000373272,NM_002660.2;PLCG1,splice_region_variant,p.=,ENST00000373271,NM_182811.1;PLCG1,splice_region_variant,p.=,ENST00000244007,;ZHX3,downstream_gene_variant,,ENST00000309060,;ZHX3,downstream_gene_variant,,ENST00000540170,NM_015035.3;ZHX3,downstream_gene_variant,,ENST00000421422,;PLCG1,splice_region_variant,,ENST00000608689,;PLCG1,splice_region_variant,,ENST00000609821,;PLCG1,splice_region_variant,p.=,ENST00000607954,;PLCG1,splice_region_variant,p.=,ENST00000609257,;PLCG1,splice_region_variant,,ENST00000461641,;PLCG1,splice_region_variant,,ENST00000599785,;PLCG1,splice_region_variant,p.=,ENST00000608885,;PLCG1,downstream_gene_variant,,ENST00000477870,;PLCG1,downstream_gene_variant,,ENST00000483175,;							LOW	3645/3873		PLCG1_HUMAN			Transcript			.	ENSP00000362368		CCDS13314.1			1	
DCAF4L2	0	LGGM	GRCh37	8	88885395	88885395	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	106	21	.	.	ENST00000319675.3:c.805C>T	p.His269Tyr	p.H269Y	ENST00000319675	NM_152418.3	269	Cat/Tat	0	1	1	UPI0000072860	0	NA	ENST00000319675		ENSG00000176566	26657		127	3.07		HGNC	p.H269Y		DCAF4L2		SNV							ENST00000319675	protein_coding	getma.org/?cm=var&var=hg19,8,88885395,G,A&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		H/Y		A	medium	902/3324		getma.org/?cm=msa&ty=f&p=DC4L2_HUMAN&rb=262&re=298&var=H269Y	deleterious(0.03)	Q8N7W3_HUMAN			YES	DCAF4L2,missense_variant,p.His269Tyr,ENST00000319675,NM_152418.3;							MODERATE	805/1188	H269Y	DC4L2_HUMAN			Transcript		benign(0.208)	.	ENSP00000316496		CCDS6245.1			1	
FRMPD1	0	LGGM	GRCh37	9	37744877	37744877	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	61	22	.	.	ENST00000539465.1:c.2848C>A	p.Pro950Thr	p.P950T	ENST00000539465		950	Ccc/Acc	0	1		UPI000013D2CC	0	NA	ENST00000377765		ENSG00000070601	29159		83	1.78		HGNC	p.P950T		FRMPD1		SNV							ENST00000539465	protein_coding	getma.org/?cm=var&var=hg19,9,37744877,C,A&fts=all		hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		P/T		A	low	2947/4971		getma.org/?cm=msa&ty=f&p=FRPD1_HUMAN&rb=512&re=954&var=P950T	deleterious(0.01)	F5H0G3_HUMAN				FRMPD1,missense_variant,p.Pro950Thr,ENST00000539465,;FRMPD1,missense_variant,p.Pro950Thr,ENST00000377765,NM_014907.2;FRMPD1,downstream_gene_variant,,ENST00000536622,;FRMPD1,downstream_gene_variant,,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;							MODERATE	2848/4737	P950T	FRPD1_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000366995		CCDS6612.1			1	
CEP72	0	LGGM	GRCh37	5	647981	647981	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	23	22	.	.	ENST00000264935.5:c.1728G>A	p.Glu576=	p.E576=	ENST00000264935	NM_018140.3	576	gaG/gaA	0	1	1	UPI0000072FB8	0		ENST00000264935		ENSG00000112877	25547		45			HGNC	p.E576E		CEP72		SNV							ENST00000264935	protein_coding			hmmpanther:PTHR23311,hmmpanther:PTHR23311:SF0		E		A		1818/2434							YES	CEP72,synonymous_variant,p.=,ENST00000264935,NM_018140.3;CEP72,3_prime_UTR_variant,,ENST00000444221,;CEP72,non_coding_transcript_exon_variant,,ENST00000512038,;							LOW	1728/1944		CEP72_HUMAN			Transcript			.	ENSP00000264935		CCDS34126.1			1	
RNF31	0	LGGM	GRCh37	14	24619308	24619308	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	25	23	.	.	ENST00000324103.6:c.848C>T	p.Ser283Phe	p.S283F	ENST00000324103	NM_017999.4	283	tCc/tTc	0	1	1	UPI0000072F93	0	NA	ENST00000324103		ENSG00000092098	16031		48	1.39		HGNC	p.S98F		RNF31		SNV			1				ENST00000559533	protein_coding	getma.org/?cm=var&var=hg19,14,24619308,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1		S/F		T	low	1168/3627		getma.org/?cm=msa&ty=f&p=RNF31_HUMAN&rb=154&re=353&var=S283F	deleterious(0.01)	H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN			YES	RNF31,missense_variant,p.Ser283Phe,ENST00000324103,NM_017999.4;RNF31,missense_variant,p.Ser132Phe,ENST00000559275,;RNF31,missense_variant,p.Ser132Phe,ENST00000382687,;RNF31,missense_variant,p.Ser184Phe,ENST00000560787,;RNF31,missense_variant,p.Ser98Phe,ENST00000559533,;PSME2,upstream_gene_variant,,ENST00000216802,NM_002818.2;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,,ENST00000559056,;RNF31,non_coding_transcript_exon_variant,,ENST00000559583,;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,;PSME2,upstream_gene_variant,,ENST00000561103,;PSME2,upstream_gene_variant,,ENST00000559613,;RNF31,3_prime_UTR_variant,,ENST00000558907,;RNF31,intron_variant,,ENST00000491351,;RP11-468E2.4,upstream_gene_variant,,ENST00000558468,;PSME2,upstream_gene_variant,,ENST00000558931,;RNF31,upstream_gene_variant,,ENST00000559071,;PSME2,upstream_gene_variant,,ENST00000559453,;PSME2,upstream_gene_variant,,ENST00000558273,;RNF31,downstream_gene_variant,,ENST00000560342,;PSME2,upstream_gene_variant,,ENST00000560788,;PSME2,upstream_gene_variant,,ENST00000560592,;PSME2,upstream_gene_variant,,ENST00000559493,;PSME2,upstream_gene_variant,,ENST00000560370,;							MODERATE	848/3219	S283F	RNF31_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000315112		CCDS41931.1			1	
NLRP7	0	LGGM	GRCh37	19	55442025	55442025	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	39	23	.	.	ENST00000588756.1:c.2652A>T	p.Gln884His	p.Q884H	ENST00000588756		884	caA/caT	0	1		UPI0000046432	0	getma.org/pdb.php?prot=NALP7_HUMAN&from=875&to=897&var=Q884H	ENST00000340844		ENSG00000167634	22947		62	-0.045		HGNC	p.Q912H		NLRP7		SNV			1				ENST00000446217	protein_coding	getma.org/?cm=var&var=hg19,19,55442025,T,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,SMART_domains:SM00368,Superfamily_domains:SSF52047		Q/H		A	neutral	2728/3250		getma.org/?cm=msa&ty=f&p=NALP7_HUMAN&rb=855&re=917&var=Q884H	tolerated(0.58)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN				NLRP7,missense_variant,p.Gln884His,ENST00000588756,;NLRP7,missense_variant,p.Gln912His,ENST00000446217,;NLRP7,missense_variant,p.Gln856His,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,missense_variant,p.Gln856His,ENST00000328092,;NLRP7,missense_variant,p.Gln884His,ENST00000592784,;NLRP7,missense_variant,p.Gln884His,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Gln884His,ENST00000590030,;NLRP7,missense_variant,p.Gln884His,ENST00000586379,;							MODERATE	2652/2943	Q884H	NALP7_HUMAN			Transcript		benign(0.036)	.	ENSP00000339491		CCDS33109.1			1	
SLC16A14	0	LGGM	GRCh37	2	230910615	230910615	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	69	23	.	.	ENST00000295190.4:c.1227G>A	p.Ala409=	p.A409=	ENST00000295190	NM_152527.4	409	gcG/gcA	0	1	1	UPI000004EE99	0		ENST00000295190		ENSG00000163053	26417		92			HGNC	p.A409A	rs761925209	SLC16A14	0.000122	SNV							ENST00000295190	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF121,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		A		T		1686/4390				C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN			YES	SLC16A14,synonymous_variant,p.=,ENST00000295190,NM_152527.4;SLC16A14,synonymous_variant,p.=,ENST00000457406,;SLC16A14,synonymous_variant,p.=,ENST00000412034,;							LOW	1227/1533		MOT14_HUMAN			Transcript			.	ENSP00000295190	1.65E-05	CCDS2473.1			1	
ACAD10	0	LGGM	GRCh37	12	112143658	112143658	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	61	24	.	.	ENST00000455480.2:c.453G>T	p.Gln151His	p.Q151H	ENST00000455480	NM_001136538.1	151	caG/caT	0	1		UPI000013C8E1	0	getma.org/pdb.php?prot=ACD10_HUMAN&from=45&to=231&var=Q151H	ENST00000313698		ENSG00000111271	21597		85	1.15		HGNC	p.Q151H		ACAD10		SNV							ENST00000413681	protein_coding	getma.org/?cm=var&var=hg19,12,112143658,G,T&fts=all		TIGRFAM_domain:TIGR02247,TIGRFAM_domain:TIGR01509,Gene3D:3.40.50.1000,Pfam_domain:PF13419,Superfamily_domains:SSF56784,Prints_domain:PR00413		Q/H		T	low	608/3959		getma.org/?cm=msa&ty=f&p=ACD10_HUMAN&rb=45&re=231&var=Q151H	deleterious(0)	F8VXK4_HUMAN,D6RFF6_HUMAN				ACAD10,missense_variant,p.Gln151His,ENST00000455480,NM_001136538.1;ACAD10,missense_variant,p.Gln151His,ENST00000313698,NM_025247.5;ACAD10,missense_variant,p.Gln151His,ENST00000549590,;ACAD10,5_prime_UTR_variant,,ENST00000392636,;ACAD10,intron_variant,,ENST00000515283,;ACAD10,downstream_gene_variant,,ENST00000514615,;ACAD10,non_coding_transcript_exon_variant,,ENST00000413681,;ACAD10,upstream_gene_variant,,ENST00000502746,;ACAD10,non_coding_transcript_exon_variant,,ENST00000507135,;ACAD10,non_coding_transcript_exon_variant,,ENST00000509936,;							MODERATE	453/3180	Q151H	ACD10_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000325137		CCDS31903.1			1	
ITGA4	0	LGGM	GRCh37	2	182358100	182358100	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	40	24	.	.	ENST00000397033.2:c.1202A>T	p.Tyr401Phe	p.Y401F	ENST00000397033	NM_000885.4	401	tAt/tTt	0	1	1	UPI000052D444	0	getma.org/pdb.php?prot=ITA4_HUMAN&from=369&to=403&var=Y401F	ENST00000397033		ENSG00000115232	6140		64	2.325		HGNC	p.Y401F		ITGA4		SNV							ENST00000397033	protein_coding	getma.org/?cm=var&var=hg19,2,182358100,A,T&fts=all		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF78,SMART_domains:SM00191,Superfamily_domains:SSF69318		Y/F		T	medium	1632/4189		getma.org/?cm=msa&ty=f&p=ITA4_HUMAN&rb=369&re=403&var=Y401F	deleterious(0)	Q8IUA2_HUMAN,E7EP60_HUMAN			YES	ITGA4,missense_variant,p.Tyr401Phe,ENST00000397033,NM_000885.4;ITGA4,missense_variant,p.Tyr401Phe,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000473002,;ITGA4,upstream_gene_variant,,ENST00000490435,;							MODERATE	1202/3099	Y401F	ITA4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380227		CCDS42788.1			1	
CDH7	0	LGGM	GRCh37	18	63547757	63547757	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	43	24	.	.	ENST00000397968.2:c.1985A>G	p.Asp662Gly	p.D662G	ENST00000397968	NM_004361.2	662	gAc/gGc	0	1		UPI000013D269	0	NA	ENST00000323011		ENSG00000081138	1766		67	3.655		HGNC	p.D662G		CDH7		SNV							ENST00000323011	protein_coding	getma.org/?cm=var&var=hg19,18,63547757,A,G&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Low_complexity_(Seg):seg		D/G		G	high	2310/2728		getma.org/?cm=msa&ty=f&p=CADH7_HUMAN&rb=631&re=779&var=D662G	deleterious(0.01)					CDH7,missense_variant,p.Asp662Gly,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Asp662Gly,ENST00000323011,NM_033646.1;							MODERATE	1985/2358	D662G	CADH7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000319166		CCDS11993.1			1	
NLRP4	0	LGGM	GRCh37	19	56382244	56382244	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	45	24	.	.	ENST00000301295.6:c.2406G>A	p.Met802Ile	p.M802I	ENST00000301295	NM_134444.4	802	atG/atA	0	1	1	UPI000013E6FD	0	getma.org/pdb.php?prot=NALP4_HUMAN&from=719&to=805&var=M802I	ENST00000301295		ENSG00000160505	22943		69	0.55		HGNC	p.M746I		NLRP4		SNV							ENST00000346986	protein_coding	getma.org/?cm=var&var=hg19,19,56382244,G,A&fts=all		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		M/I		A	neutral	2828/3670		getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=719&re=805&var=M802I	deleterious(0.01)	K7ES09_HUMAN			YES	NLRP4,missense_variant,p.Met802Ile,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Met746Ile,ENST00000346986,;NLRP4,missense_variant,p.Met727Ile,ENST00000587891,;NLRP4,missense_variant,p.Met312Ile,ENST00000589437,;							MODERATE	2406/2985	M802I	NALP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000301295		CCDS12936.1			1	
SAMD12	0	LGGM	GRCh37	8	119593051	119593051	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	135	24	.	.	ENST00000314727.4:c.95G>C	p.Gly32Ala	p.G32A	ENST00000314727	NM_207506.2	32	gGt/gCt	0	1	1	UPI000013F8F1	0	NA	ENST00000314727		ENSG00000177570	31750		159	0.695		HGNC	p.G32A		SAMD12		SNV							ENST00000445741	protein_coding	getma.org/?cm=var&var=hg19,8,119593051,C,G&fts=all		hmmpanther:PTHR20843,hmmpanther:PTHR20843:SF2		G/A		G	neutral	232/2172		getma.org/?cm=msa&ty=f&p=SAM12_HUMAN&rb=1&re=73&var=G32A	tolerated(0.09)	E9PLP5_HUMAN			YES	SAMD12,missense_variant,p.Gly32Ala,ENST00000409003,NM_001101676.1;SAMD12,missense_variant,p.Gly32Ala,ENST00000314727,NM_207506.2;SAMD12,missense_variant,p.Gly29Ala,ENST00000453675,;SAMD12,missense_variant,p.Gly24Ala,ENST00000524796,;SAMD12,missense_variant,p.Gly32Ala,ENST00000526328,;SAMD12,missense_variant,p.Gly47Ala,ENST00000526765,;SAMD12,missense_variant,p.Gly32Ala,ENST00000445741,;							MODERATE	95/606	G32A	SAM12_HUMAN			Transcript		benign(0.005)	.	ENSP00000314173		CCDS6325.1			1	
FGD5	0	LGGM	GRCh37	3	14905760	14905760	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	64	25	.	.	ENST00000285046.5:c.2651C>T	p.Thr884Ile	p.T884I	ENST00000285046	NM_152536.3	884	aCc/aTc	0	1	1	UPI00002372AE	0	NA	ENST00000285046		ENSG00000154783	19117		89	0.69		HGNC	p.T884I		FGD5		SNV							ENST00000285046	protein_coding	getma.org/?cm=var&var=hg19,3,14905760,C,T&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13		T/I		T	neutral	2761/5720		getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=455&re=895&var=T884I	tolerated(0.36)	A3KMQ0_HUMAN			YES	FGD5,missense_variant,p.Thr884Ile,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Thr643Ile,ENST00000543601,;FGD5,missense_variant,p.Thr98Ile,ENST00000457774,;							MODERATE	2651/4389	T884I	FGD5_HUMAN			Transcript		possibly_damaging(0.556)	.	ENSP00000285046		CCDS46767.1			1	
LPHN3	0	LGGM	GRCh37	4	62801658	62801658	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	34	25	.	.	ENST00000514591.1:c.2110C>A	p.Leu704Met	p.L704M	ENST00000514591		704	Ctg/Atg	0	1	1	UPI00016278EF	0	getma.org/pdb.php?prot=LPHN3_HUMAN&from=559&to=776&var=L691M	ENST00000514591		ENSG00000150471	20974		59	1.245		HGNC	p.L704M		LPHN3		SNV							ENST00000514157	protein_coding	getma.org/?cm=var&var=hg19,4,62801658,C,A&fts=all		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF12003		L/M		A	low	2439/6297		getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=559&re=776&var=L691M	tolerated(0.11)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Leu704Met,ENST00000512091,;LPHN3,missense_variant,p.Leu704Met,ENST00000514591,;LPHN3,missense_variant,p.Leu704Met,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Leu772Met,ENST00000509896,;LPHN3,missense_variant,p.Leu772Met,ENST00000511324,;LPHN3,missense_variant,p.Leu772Met,ENST00000508693,;LPHN3,missense_variant,p.Leu772Met,ENST00000507164,;LPHN3,missense_variant,p.Leu772Met,ENST00000506720,;LPHN3,missense_variant,p.Leu772Met,ENST00000506746,;LPHN3,missense_variant,p.Leu772Met,ENST00000507625,;LPHN3,missense_variant,p.Leu704Met,ENST00000506700,;LPHN3,missense_variant,p.Leu704Met,ENST00000504896,;LPHN3,missense_variant,p.Leu704Met,ENST00000514157,;LPHN3,missense_variant,p.Leu704Met,ENST00000508946,;LPHN3,missense_variant,p.Leu704Met,ENST00000514996,;LPHN3,missense_variant,p.Leu162Met,ENST00000502815,;LPHN3,non_coding_transcript_exon_variant,,ENST00000508078,;							MODERATE	2110/4410	L691M				Transcript		benign(0.393)	.	ENSP00000422533		CCDS54768.1			1	
FAM149B1	0	LGGM	GRCh37	10	74992918	74992918	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	57	25	.	.	ENST00000242505.6:c.1349G>A	p.Arg450Gln	p.R450Q	ENST00000242505	NM_173348.1	450	cGa/cAa	0	1	1	UPI00001617A8	0	NA	ENST00000242505		ENSG00000138286	29162		82	2.095		HGNC	p.R245Q		FAM149B1		SNV							ENST00000445951	protein_coding	getma.org/?cm=var&var=hg19,10,74992918,G,A&fts=all		hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF0		R/Q		A	medium	1523/5408		getma.org/?cm=msa&ty=f&p=F149B_HUMAN&rb=382&re=581&var=R450Q	deleterious(0.04)				YES	FAM149B1,missense_variant,p.Arg450Gln,ENST00000242505,NM_173348.1;FAM149B1,missense_variant,p.Arg245Gln,ENST00000445951,;FAM149B1,missense_variant,p.Arg383Gln,ENST00000372955,;FAM149B1,intron_variant,,ENST00000470798,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,downstream_gene_variant,,ENST00000607940,;FAM149B1,missense_variant,p.Arg208Gln,ENST00000475829,;FAM149B1,non_coding_transcript_exon_variant,,ENST00000466261,;FAM149B1,upstream_gene_variant,,ENST00000468462,;							MODERATE	1349/1749	R450Q	F149B_HUMAN			Transcript		benign(0.014)	.	ENSP00000242505		CCDS44435.1			1	
ADCK1	0	LGGM	GRCh37	14	78285361	78285361	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	46	27	.	.	ENST00000238561.5:c.40A>T	p.Met14Leu	p.M14L	ENST00000238561	NM_020421.3	14	Atg/Ttg	0	1	1	UPI000014035F	0	NA	ENST00000238561		ENSG00000063761	19038		73	-0.46		HGNC	p.M14L		ADCK1		SNV							ENST00000393639	protein_coding	getma.org/?cm=var&var=hg19,14,78285361,A,T&fts=all		hmmpanther:PTHR10566:SF58,hmmpanther:PTHR10566		M/L		T	neutral	139/2234		getma.org/?cm=msa&ty=f&p=ADCK1_HUMAN&rb=1&re=142&var=M14L	tolerated(0.58)				YES	ADCK1,missense_variant,p.Met14Leu,ENST00000238561,NM_020421.3;ADCK1,missense_variant,p.Met14Leu,ENST00000341211,NM_001142545.1;ADCK1,missense_variant,p.Met14Leu,ENST00000557501,;Y_RNA,downstream_gene_variant,,ENST00000362570,;ADCK1,missense_variant,p.Met14Leu,ENST00000393639,;ADCK1,missense_variant,p.Met14Leu,ENST00000556048,;							MODERATE	40/1572	M14L	ADCK1_HUMAN			Transcript		benign(0.001)	.	ENSP00000238561		CCDS9869.1			1	
CIT	0	LGGM	GRCh37	12	120204945	120204945	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	120	27	.	.	ENST00000392521.2:c.2250G>C	p.Gln750His	p.Q750H	ENST00000392521	NM_001206999.1	750	caG/caC	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		147	0.805		HGNC	p.Q708H		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120204945,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		Q/H		G	low	2177/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=428&re=1166&var=Q708H	deleterious(0.01)					CIT,missense_variant,p.Gln750His,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Gln708His,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Gln336His,ENST00000392520,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;							MODERATE	2124/6084	Q708H	CTRO_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000261833		CCDS9192.1			1	
CIT	0	LGGM	GRCh37	12	120204940	120204940	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	121	27	.	.	ENST00000392521.2:c.2255T>C	p.Leu752Pro	p.L752P	ENST00000392521	NM_001206999.1	752	cTa/cCa	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		148	0.55		HGNC	p.L710P		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120204940,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		L/P		G	neutral	2182/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=428&re=1166&var=L710P	deleterious(0)					CIT,missense_variant,p.Leu752Pro,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Leu710Pro,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Leu338Pro,ENST00000392520,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;							MODERATE	2129/6084	L710P	CTRO_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000261833		CCDS9192.1			1	
SLC2A2	0	LGGM	GRCh37	3	170732500	170732500	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	36	27	.	.	ENST00000314251.3:c.129A>G	p.Arg43=	p.R43=	ENST00000314251	NM_001278659.1	43	agA/agG	0	1	1	UPI000004EC97	0		ENST00000314251		ENSG00000163581	11006		63			HGNC	p.R43R		SLC2A2		SNV			1				ENST00000497642	protein_coding			PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473,Prints_domain:PR01191		R		C		209/3210				Q6PAU8_HUMAN,C9J0E8_HUMAN			YES	SLC2A2,synonymous_variant,p.=,ENST00000314251,NM_001278659.1,NM_000340.1;SLC2A2,intron_variant,,ENST00000382808,NM_001278658.1;SLC2A2,intron_variant,,ENST00000461867,;SLC2A2,synonymous_variant,p.=,ENST00000497642,;SLC2A2,intron_variant,,ENST00000469787,;							LOW	129/1575		GTR2_HUMAN			Transcript			.	ENSP00000323568		CCDS3215.1			1	
ATP1A3	0	LGGM	GRCh37	19	42473686	42473686	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	60	29	.	.	ENST00000545399.1:c.2628G>A	p.Leu876=	p.L876=	ENST00000545399	NM_001256214.1	876	ctG/ctA	0	1		UPI000013E791	0		ENST00000302102		ENSG00000105409	801		89			HGNC	p.L833L		ATP1A3		SNV			1				ENST00000602133	protein_coding			Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,Prints_domain:PR00121,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106		L		T		2740/3548				Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN				ATP1A3,synonymous_variant,p.=,ENST00000545399,NM_001256214.1;ATP1A3,synonymous_variant,p.=,ENST00000302102,NM_152296.4;ATP1A3,synonymous_variant,p.=,ENST00000543770,NM_001256213.1;ATP1A3,synonymous_variant,p.=,ENST00000602133,;ATP1A3,synonymous_variant,p.=,ENST00000441343,;							LOW	2589/3042		AT1A3_HUMAN			Transcript			.	ENSP00000302397		CCDS12594.1			1	
AAK1	0	LGGM	GRCh37	2	69709891	69709891	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	69	30	.	.	ENST00000409085.4:c.2419C>G	p.Leu807Val	p.L807V	ENST00000409085	NM_014911.3	807	Ctc/Gtc	0	1	1	UPI0001881663	0	NA	ENST00000409085		ENSG00000115977	19679		99	0.895		HGNC	p.L807V		AAK1		SNV							ENST00000406297	protein_coding	getma.org/?cm=var&var=hg19,2,69709891,G,C&fts=all		hmmpanther:PTHR22967,hmmpanther:PTHR22967:SF9,Low_complexity_(Seg):seg		L/V		C	low	2796/11345		getma.org/?cm=msa&ty=f&p=AAK1_HUMAN&rb=361&re=959&var=L807V	deleterious(0.03)				YES	AAK1,missense_variant,p.Leu807Val,ENST00000409085,NM_014911.3;AAK1,missense_variant,p.Leu807Val,ENST00000406297,;AAK1,intron_variant,,ENST00000409068,;AAK1,non_coding_transcript_exon_variant,,ENST00000489327,;							MODERATE	2419/2886	L807V	AAK1_HUMAN			Transcript		benign(0.413)	.	ENSP00000386456		CCDS1893.2			1	
SLC16A14	0	LGGM	GRCh37	2	230910410	230910410	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	57	30	.	.	ENST00000295190.4:c.1381+51T>C		*461*	ENST00000295190	NM_152527.4			0	1	1	UPI000004EE99	0		ENST00000295190		ENSG00000163053	26417		87			HGNC	p.L478L		SLC16A14		SNV							ENST00000457406	protein_coding							G		-/4390				C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN			YES	SLC16A14,synonymous_variant,p.=,ENST00000457406,;SLC16A14,synonymous_variant,p.=,ENST00000412034,;SLC16A14,intron_variant,,ENST00000295190,NM_152527.4;							MODIFIER	-/1533		MOT14_HUMAN			Transcript			.	ENSP00000295190		CCDS2473.1			1	
C11orf63	0	LGGM	GRCh37	11	122774814	122774814	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	55	31	.	.	ENST00000227349.2:c.526G>C	p.Gly176Arg	p.G176R	ENST00000227349	NM_024806.3	176	Gga/Cga	0	1	1	UPI00001FA5AB	0	NA	ENST00000227349		ENSG00000109944	26288		86	1.61		HGNC	p.G176R		C11orf63		SNV							ENST00000531316	protein_coding	getma.org/?cm=var&var=hg19,11,122774814,G,C&fts=all		hmmpanther:PTHR14726		G/R		C	low	823/2910		getma.org/?cm=msa&ty=f&p=CK063_HUMAN&rb=1&re=210&var=G176R	tolerated(0.1)				YES	C11orf63,missense_variant,p.Gly176Arg,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Gly176Arg,ENST00000531316,;C11orf63,missense_variant,p.Gly176Arg,ENST00000307257,NM_199124.2;							MODERATE	526/2337	G176R	CK063_HUMAN			Transcript		benign(0.033)	.	ENSP00000227349		CCDS8438.1			1	
ELOVL3	0	LGGM	GRCh37	10	103988732	103988732	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	48	31	.	.	ENST00000370005.3:c.536C>T	p.Ala179Val	p.A179V	ENST00000370005	NM_152310.1	179	gCc/gTc	0	1	1	UPI000004CAF5	0	NA	ENST00000370005		ENSG00000119915	18047		79	1.115		HGNC	p.A179V		ELOVL3		SNV							ENST00000370005	protein_coding	getma.org/?cm=var&var=hg19,10,103988732,C,T&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF01151,hmmpanther:PTHR11157:SF40,hmmpanther:PTHR11157		A/V		T	low	757/1371		getma.org/?cm=msa&ty=f&p=ELOV3_HUMAN&rb=29&re=266&var=A179V	deleterious(0)				YES	ELOVL3,missense_variant,p.Ala179Val,ENST00000370005,NM_152310.1;PITX3,downstream_gene_variant,,ENST00000370002,NM_005029.3;PITX3,downstream_gene_variant,,ENST00000539804,;							MODERATE	536/813	A179V	ELOV3_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000359022		CCDS7531.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147336253	147336253	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	109	32	.	.	ENST00000361727.3:c.1953C>T	p.Val651=	p.V651=	ENST00000361727	NM_014141.5	651	gtC/gtT	0	1	1	UPI00001285FA	0		ENST00000361727		ENSG00000174469	13830		141			HGNC	p.V42V	rs749504617,COSM600090	CNTNAP2		SNV			1			0,1	ENST00000455301	protein_coding			hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127		V		T		2469/9894	6.00E-05			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			YES	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;CNTNAP2,synonymous_variant,p.=,ENST00000455301,;	0.000116				0,1		LOW	1953/3996		CNTP2_HUMAN			Transcript			.	ENSP00000354778	4.12E-05	CCDS5889.1			1	
SNCAIP	0	LGGM	GRCh37	5	121759295	121759295	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	53	33	.	.	ENST00000261368.8:c.863C>A	p.Ser288Ter	p.S288*	ENST00000261368	NM_005460.2	288	tCa/tAa	0	1	1	UPI000006D872	0	NA	ENST00000261368		ENSG00000064692	11139		86	0		HGNC	p.S288X		SNCAIP		SNV			1				ENST00000379536	protein_coding	getma.org/?cm=var&var=hg19,5,121759295,C,A&fts=all		hmmpanther:PTHR22882		S/*		A	NA	1125/3745		NA		D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN			YES	SNCAIP,stop_gained,p.Ser335Ter,ENST00000261367,;SNCAIP,stop_gained,p.Ser335Ter,ENST00000379533,;SNCAIP,stop_gained,p.Ser288Ter,ENST00000261368,NM_005460.2;SNCAIP,stop_gained,p.Ser288Ter,ENST00000379536,;SNCAIP,stop_gained,p.Ser335Ter,ENST00000503116,;SNCAIP,stop_gained,p.Ser288Ter,ENST00000509154,;SNCAIP,intron_variant,,ENST00000379538,NM_001242935.1;SNCAIP,intron_variant,,ENST00000542191,;SNCAIP,intron_variant,,ENST00000414317,;SNCAIP,intron_variant,,ENST00000504884,;SNCAIP,downstream_gene_variant,,ENST00000514467,;SNCAIP,downstream_gene_variant,,ENST00000506272,;SNCAIP,downstream_gene_variant,,ENST00000508681,;SNCAIP,stop_gained,p.Ser335Ter,ENST00000395469,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000510003,;SNCAIP,intron_variant,,ENST00000512385,;SNCAIP,intron_variant,,ENST00000508017,;SNCAIP,intron_variant,,ENST00000510658,;SNCAIP,intron_variant,,ENST00000509023,;SNCAIP,intron_variant,,ENST00000395466,;SNCAIP,intron_variant,,ENST00000512146,;SNCAIP,intron_variant,,ENST00000515215,;							HIGH	863/2760	S288*	SNCAP_HUMAN			Transcript			.	ENSP00000261368		CCDS4131.1			1	
SMC6	0	LGGM	GRCh37	2	17897384	17897384	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	61	34	.	.	ENST00000448223.2:c.1494A>G	p.Gly498=	p.G498=	ENST00000448223	NM_001142286.1	498	ggA/ggG	0	1		UPI0000073C3B	0		ENST00000351948		ENSG00000163029	20466		95			HGNC	p.G498G		SMC6		SNV							ENST00000402989	protein_coding			Pfam_domain:PF02463,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF2		G		C		1704/5173				C9JEF0_HUMAN				SMC6,synonymous_variant,p.=,ENST00000448223,NM_001142286.1;SMC6,synonymous_variant,p.=,ENST00000351948,NM_024624.5;SMC6,synonymous_variant,p.=,ENST00000402989,;SMC6,synonymous_variant,p.=,ENST00000381272,;SMC6,synonymous_variant,p.=,ENST00000446852,;SMC6,upstream_gene_variant,,ENST00000430591,;							LOW	1494/3276		SMC6_HUMAN			Transcript			.	ENSP00000323439		CCDS1690.1			1	
ZNF99	0	LGGM	GRCh37	19	22941215	22941215	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	81	34	.	.	ENST00000596209.1:c.1496A>G	p.His499Arg	p.H499R	ENST00000596209	NM_001080409.2	499	cAt/cGt	0	1	1	UPI0000426011	0	getma.org/pdb.php?prot=ZNF99_HUMAN&from=402&to=431&var=H408R	ENST00000596209		ENSG00000213973	13175		115	3.155		HGNC	p.H499R	rs761583756	ZNF99		SNV							ENST00000596209	protein_coding	getma.org/?cm=var&var=hg19,19,22941215,T,C&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157		H/R		C	medium	1587/2686	1.51E-05	getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=402&re=431&var=H408R	deleterious(0)	M0R335_HUMAN			YES	ZNF99,missense_variant,p.His408Arg,ENST00000397104,;ZNF99,missense_variant,p.His499Arg,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODERATE	1496/2595	H408R				Transcript		benign(0.019)	.	ENSP00000472969	8.26E-06	CCDS59369.1			1	
ECEL1	0	LGGM	GRCh37	2	233349214	233349214	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	88	34	.	.	ENST00000304546.1:c.1152G>A	p.Gln384=	p.Q384=	ENST00000304546	NM_004826.2	384	caG/caA	0	1	1	UPI000013E997	0		ENST00000304546		ENSG00000171551	3147		122			HGNC	p.Q384Q		ECEL1		SNV			1				ENST00000409941	protein_coding			Superfamily_domains:SSF55486,Pfam_domain:PF05649,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733		Q		T		1363/2865							YES	ECEL1,synonymous_variant,p.=,ENST00000304546,NM_004826.2;ECEL1,synonymous_variant,p.=,ENST00000409941,;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;							LOW	1152/2328		ECEL1_HUMAN			Transcript			.	ENSP00000302051		CCDS2493.1			1	
PRRC2C	0	LGGM	GRCh37	1	171481319	171481319	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	81	34	.	.	ENST00000338920.4:c.92T>A	p.Leu31Ter	p.L31*	ENST00000338920	NM_015172.3	31	tTa/tAa	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		115	0		HGNC	p.L31X		PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171481319,T,A&fts=all		Pfam_domain:PF07001,hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		L/*		A	NA	329/10355		NA					YES	PRRC2C,stop_gained,p.Leu31Ter,ENST00000367742,;PRRC2C,stop_gained,p.Leu31Ter,ENST00000338920,NM_015172.3;PRRC2C,stop_gained,p.Leu31Ter,ENST00000392078,;PRRC2C,stop_gained,p.Leu31Ter,ENST00000426496,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000467601,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000463586,;							HIGH	92/8454	L31*	PRC2C_HUMAN			Transcript			.	ENSP00000343629		CCDS1296.2			1	
LILRA2	0	LGGM	GRCh37	19	55085816	55085816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	77	35	.	.	ENST00000251377.3:c.119T>C	p.Ile40Thr	p.I40T	ENST00000251377		40	aTc/aCc	0	1	1	UPI0000034C01	0	getma.org/pdb.php?prot=LIRA2_HUMAN&from=28&to=116&var=I40T	ENST00000251377		ENSG00000239998	6603		112	-1.825		HGNC	p.I40T	rs777406331	LILRA2		SNV							ENST00000251376	protein_coding	getma.org/?cm=var&var=hg19,19,55085816,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF90,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		I/T		C	neutral	252/1799	1.50E-05	getma.org/?cm=msa&ty=f&p=LIRA2_HUMAN&rb=28&re=116&var=I40T	tolerated(0.74)	E9PDF4_HUMAN			YES	LILRA2,missense_variant,p.Ile40Thr,ENST00000251377,;LILRA2,missense_variant,p.Ile40Thr,ENST00000391738,NM_001130917.1;LILRA2,missense_variant,p.Ile40Thr,ENST00000251376,NM_006866.2;LILRA2,missense_variant,p.Ile40Thr,ENST00000439534,;LILRA2,missense_variant,p.Ile28Thr,ENST00000391737,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRA2,non_coding_transcript_exon_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;							MODERATE	119/1452	I40T	LIRA2_HUMAN			Transcript		benign(0.001)	.	ENSP00000251377	8.24E-06	CCDS46179.1			1	
TTC14	0	LGGM	GRCh37	3	180324371	180324371	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	99	35	.	.	ENST00000296015.4:c.1152A>G	p.Thr384=	p.T384=	ENST00000296015	NM_133462.3	384	acA/acG	0	1	1	UPI00000720AE	0		ENST00000296015		ENSG00000163728	24697		134			HGNC	p.T384T		TTC14		SNV							ENST00000412756	protein_coding			PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		T		G		1284/2881				C9JBA2_HUMAN,C9J974_HUMAN			YES	TTC14,synonymous_variant,p.=,ENST00000412756,NM_001042601.2;TTC14,synonymous_variant,p.=,ENST00000296015,NM_133462.3;TTC14,synonymous_variant,p.=,ENST00000382584,NM_001288582.1;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000492617,;TTC14,downstream_gene_variant,,ENST00000495660,;TTC14,downstream_gene_variant,,ENST00000491380,;CCDC39,downstream_gene_variant,,ENST00000489868,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,synonymous_variant,p.=,ENST00000470669,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000462895,;							LOW	1152/2313		TTC14_HUMAN			Transcript			.	ENSP00000296015		CCDS3237.1			1	
LATS2	0	LGGM	GRCh37	13	21557740	21557740	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	46	36	.	.	ENST00000382592.4:c.2105A>T	p.Lys702Met	p.K702M	ENST00000382592	NM_014572.2	702	aAg/aTg	0	1	1	UPI000013DBF5	0	getma.org/pdb.php?prot=LATS2_HUMAN&from=668&to=833&var=K702M	ENST00000382592		ENSG00000150457	6515		82	1.61		HGNC	p.K702M		LATS2		SNV							ENST00000382592	protein_coding	getma.org/?cm=var&var=hg19,13,21557740,T,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149,PROSITE_profiles:PS50011		K/M		A	low	2511/5511		getma.org/?cm=msa&ty=f&p=LATS2_HUMAN&rb=668&re=833&var=K702M	deleterious(0)				YES	LATS2,missense_variant,p.Lys702Met,ENST00000382592,NM_014572.2;LATS2,missense_variant,p.Lys702Met,ENST00000542899,;							MODERATE	2105/3267	K702M	LATS2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000372035		CCDS9294.1			1	
FAM21C	0	LGGM	GRCh37	10	46272795	46272795	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	153	37	.	.	ENST00000374362.2:c.2217G>A	p.Val739=	p.V739=	ENST00000374362		739	gtG/gtA	0	1	1	UPI0000551BE9	0		ENST00000374362		ENSG00000172661	23414		190			HGNC	p.V739V		FAM21C		SNV							ENST00000374362	protein_coding			hmmpanther:PTHR21669:SF4,hmmpanther:PTHR21669		V		A		2316/4623							YES	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,intron_variant,,ENST00000537517,NM_001169107.1;FAM21C,upstream_gene_variant,,ENST00000374359,;							LOW	2217/3963		FA21C_HUMAN			Transcript			.	ENSP00000363482		CCDS44374.2			1	
CCDC41	0	LGGM	GRCh37	12	94794745	94794745	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	107	37	.	.	ENST00000397809.5:c.430T>C	p.Tyr144His	p.Y144H	ENST00000397809	NM_016122.2	144	Tat/Cat	0	1	1	UPI0000D4BD6F	0	NA	ENST00000397809		ENSG00000173588	17966		144	2.005		HGNC	p.Y144H		CCDC41		SNV			1				ENST00000397809	protein_coding	getma.org/?cm=var&var=hg19,12,94794745,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF2		Y/H		G	medium	980/3773		getma.org/?cm=msa&ty=f&p=CCD41_HUMAN&rb=133&re=591&var=Y136H	deleterious(0.04)	J3KNW7_HUMAN,H0YHH5_HUMAN			YES	CCDC41,missense_variant,p.Tyr144His,ENST00000397809,NM_016122.2;CCDC41,missense_variant,p.Tyr144His,ENST00000339839,NM_001042399.1;CCDC41,missense_variant,p.Tyr144His,ENST00000547575,;CCDC41,missense_variant,p.Tyr111His,ENST00000397807,;CCDC41,non_coding_transcript_exon_variant,,ENST00000549352,;CCDC41,non_coding_transcript_exon_variant,,ENST00000551250,;CCDC41,non_coding_transcript_exon_variant,,ENST00000550328,;CCDC41,missense_variant,p.Tyr111His,ENST00000547232,;CCDC41,downstream_gene_variant,,ENST00000551596,;CCDC41,downstream_gene_variant,,ENST00000551078,;							MODERATE	430/2106	Y136H				Transcript		benign(0.052)	.	ENSP00000380911		CCDS41820.1			1	
GPRASP3	0	LGGM	GRCh37	X	102004018	102004018	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	170	38	.	.	ENST00000372735.1:c.95G>C	p.Gly32Ala	p.G32A	ENST00000372735		32	gGt/gCt	0	1		UPI00001C1D50	0	NA	ENST00000361229		ENSG00000198908	29353		208	0.55		HGNC	p.G32A		BHLHB9		SNV							ENST00000457056	protein_coding	getma.org/?cm=var&var=hg19,X,102004018,G,C&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18		G/A		C	neutral	623/3974		getma.org/?cm=msa&ty=f&p=BHLH9_HUMAN&rb=1&re=86&var=G32A	tolerated(0.16)					BHLHB9,missense_variant,p.Gly32Ala,ENST00000372735,;BHLHB9,missense_variant,p.Gly32Ala,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,missense_variant,p.Gly32Ala,ENST00000447531,NM_001142529.1;BHLHB9,missense_variant,p.Gly32Ala,ENST00000361229,NM_030639.2;BHLHB9,missense_variant,p.Gly32Ala,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;							MODERATE	95/1644	G32A	BHLH9_HUMAN			Transcript		benign(0.004)	.	ENSP00000354675		CCDS14502.1			1	
FAM172A	0	LGGM	GRCh37	5	93386522	93386522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	70	38	.	.	ENST00000395965.3:c.223C>T	p.His75Tyr	p.H75Y	ENST00000395965	NM_032042.5	75	Cac/Tac	0	1	1	UPI000006DF3B	0	NA	ENST00000395965		ENSG00000113391	25365		108	1.845		HGNC	p.H75Y		FAM172A		SNV							ENST00000395965	protein_coding	getma.org/?cm=var&var=hg19,5,93386522,G,A&fts=all		hmmpanther:PTHR21357,hmmpanther:PTHR21357:SF3		H/Y		A	low	366/4312		getma.org/?cm=msa&ty=f&p=F172A_HUMAN&rb=1&re=75&var=H75Y	deleterious(0)				YES	FAM172A,missense_variant,p.His75Tyr,ENST00000395965,NM_032042.5;FAM172A,missense_variant,p.His29Tyr,ENST00000505869,NM_001163418.1;FAM172A,missense_variant,p.His29Tyr,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;FAM172A,non_coding_transcript_exon_variant,,ENST00000504768,;FAM172A,non_coding_transcript_exon_variant,,ENST00000506398,;FAM172A,intron_variant,,ENST00000502503,;							MODERATE	223/1251	H75Y	F172A_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000379294		CCDS4069.1			1	
COG2	0	LGGM	GRCh37	1	230810816	230810816	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	78	38	.	.	ENST00000366669.4:c.972del	p.Glu325LysfsTer22	p.E325Kfs*22	ENST00000366669	NM_001145036.1	324	ttA/tt	0	1	1	UPI0000127E38	0		ENST00000366669		ENSG00000135775	6546		116			HGNC	p.L208fs		COG2		deletion							ENST00000535166	protein_coding			hmmpanther:PTHR12961		L/X		-		1087/2921				F5H1E5_HUMAN,B7Z2Y2_HUMAN,B1ALW7_HUMAN			YES	COG2,frameshift_variant,p.Glu266LysfsTer22,ENST00000534989,;COG2,frameshift_variant,p.Glu325LysfsTer22,ENST00000366669,NM_001145036.1,NM_007357.2;COG2,frameshift_variant,p.Glu325LysfsTer22,ENST00000366668,;COG2,frameshift_variant,p.Glu209LysfsTer22,ENST00000535166,;COG2,upstream_gene_variant,,ENST00000546013,;COG2,3_prime_UTR_variant,,ENST00000468893,;COG2,non_coding_transcript_exon_variant,,ENST00000494371,;							HIGH	972/2217		COG2_HUMAN			Transcript			.	ENSP00000355629		CCDS1584.1			1	
PRUNE2	0	LGGM	GRCh37	9	79321086	79321086	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	128	40	.	.	ENST00000376718.3:c.6104G>A	p.Trp2035Ter	p.W2035*	ENST00000376718	NM_015225.2	2035	tGg/tAg	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		168	0		HGNC	p.W2035X		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79321086,C,T&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		W/*		T	NA	6228/12584		NA					YES	PRUNE2,stop_gained,p.Trp1676Ter,ENST00000428286,;PRUNE2,stop_gained,p.Trp2035Ter,ENST00000376718,NM_015225.2;PRUNE2,stop_gained,p.Trp1357Ter,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							HIGH	6104/9267	W2035*	PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
ZNF337	0	LGGM	GRCh37	20	25655958	25655958	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	64	40	.	.	ENST00000376436.1:c.1966T>C	p.Phe656Leu	p.F656L	ENST00000376436		656	Ttc/Ctc	0	1		UPI000013C35E	0	getma.org/pdb.php?prot=ZN337_HUMAN&from=642&to=667&var=F656L	ENST00000252979		ENSG00000130684	15809		104	1.575		HGNC	p.F656L		ZNF337		SNV							ENST00000376436	protein_coding	getma.org/?cm=var&var=hg19,20,25655958,A,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/L		G	low	2098/3205		getma.org/?cm=msa&ty=f&p=ZN337_HUMAN&rb=622&re=687&var=F656L	deleterious(0.04)	B3KPK8_HUMAN				ZNF337,missense_variant,p.Phe656Leu,ENST00000376436,;ZNF337,missense_variant,p.Phe656Leu,ENST00000252979,NM_015655.2;ZNF337,missense_variant,p.Phe624Leu,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,;							MODERATE	1966/2256	F656L	ZN337_HUMAN			Transcript		benign(0.418)	.	ENSP00000252979		CCDS13174.1			1	
FER1L6	0	LGGM	GRCh37	8	125072938	125072938	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	127	41	.	.	ENST00000522917.1:c.3135C>T	p.Asp1045=	p.D1045=	ENST00000522917	NM_001039112.2	1045	gaC/gaT	0	1		UPI0000E9B4AA	0		ENST00000399018		ENSG00000214814	28065		168			HGNC	p.D1045D	rs771613990	FER1L6		SNV							ENST00000399018	protein_coding			hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF00168,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		D		T		3149/5859	1.50E-05							FER1L6,synonymous_variant,p.=,ENST00000522917,NM_001039112.2;FER1L6,synonymous_variant,p.=,ENST00000399018,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000520031,;FER1L6-AS2,non_coding_transcript_exon_variant,,ENST00000601180,;							LOW	3135/5574		FR1L6_HUMAN			Transcript			.	ENSP00000381982	8.24E-06	CCDS43767.1			1	
MUC16	0	LGGM	GRCh37	19	9038414	9038414	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	110	52	.	.	ENST00000397910.4:c.36105T>C	p.Ser12035=	p.S12035=	ENST00000397910	NM_024690.2	12035	agT/agC	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		162			HGNC	p.S12035S		MUC16		SNV							ENST00000397910	protein_coding			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		S		G		36309/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,splice_region_variant,p.=,ENST00000397910,NM_024690.2;							LOW	36105/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
IGKV1-6	0	LGGM	GRCh37	2	89266221	89266221	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	104	56	.	.	ENST00000464162.1:c.37C>A	p.Leu13Met	p.L13M	ENST00000464162		13	Ctg/Atg	0	1	1	UPI0000113B4D	0		ENST00000464162		ENSG00000239855	5742		160			HGNC	p.L13M		IGKV1-6		SNV							ENST00000464162	IG_V_gene			Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/M		T		66/380			deleterious(0.01)				YES	IGKV1-6,missense_variant,p.Leu13Met,ENST00000464162,;							MODERATE	37/351					Transcript		probably_damaging(0.988)	.	ENSP00000420361					1	
BDKRB1	0	LGGM	GRCh37	14	96731023	96731023	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	120	61	.	.	ENST00000216629.6:c.1004T>C	p.Leu335Pro	p.L335P	ENST00000216629	NM_000710.3	335	cTt/cCt	0	1	1	UPI0000000348	0	NA	ENST00000216629		ENSG00000100739	1029		181	0		HGNC	p.L335P		BDKRB1		SNV							ENST00000216629	protein_coding	getma.org/?cm=var&var=hg19,14,96731023,T,C&fts=all		Superfamily_domains:SSF81321,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF4		L/P		C	neutral	1610/1687		getma.org/?cm=msa&ty=f&p=BKRB1_HUMAN&rb=313&re=353&var=L335P	tolerated(0.18)				YES	BDKRB1,missense_variant,p.Leu335Pro,ENST00000216629,NM_000710.3;BDKRB1,intron_variant,,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,;							MODERATE	1004/1062	L335P	BKRB1_HUMAN			Transcript		benign(0.004)	.	ENSP00000216629		CCDS9943.1			1	
ANKRD22	0	LGGM	GRCh37	10	90588351	90588351	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	87	62	.	.	ENST00000371930.4:c.286T>C	p.Leu96=	p.L96=	ENST00000371930	NM_144590.2	96	Tta/Cta	0	1	1	UPI000013DCF6	0		ENST00000371930		ENSG00000152766	28321		149			HGNC	p.L96L		ANKRD22		SNV							ENST00000371930	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50297,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF29,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		G		497/1596							YES	ANKRD22,synonymous_variant,p.=,ENST00000371930,NM_144590.2;							LOW	286/576		ANR22_HUMAN			Transcript			.	ENSP00000360998		CCDS7390.1			1	
FRG1	0	LGGM	GRCh37	4	190873346	190873346	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	57	65	.	.	ENST00000226798.4:c.163G>T	p.Glu55Ter	p.E55*	ENST00000226798	NM_004477.2	55	Gaa/Taa	0	1	1	UPI000012AC04	0	NA	ENST00000226798		ENSG00000109536	3954		122	0		HGNC	p.E55X		FRG1		SNV			1				ENST00000226798	protein_coding	getma.org/?cm=var&var=hg19,4,190873346,G,T&fts=all		hmmpanther:PTHR12928,hmmpanther:PTHR12928:SF2		E/*		T	NA	385/1074		NA		E9PRR7_HUMAN			YES	FRG1,stop_gained,p.Glu55Ter,ENST00000226798,NM_004477.2;FRG1,5_prime_UTR_variant,,ENST00000524583,;FRG1,5_prime_UTR_variant,,ENST00000531991,;FRG1,non_coding_transcript_exon_variant,,ENST00000514482,;FRG1,3_prime_UTR_variant,,ENST00000533157,;							HIGH	163/777	E55*	FRG1_HUMAN			Transcript			.	ENSP00000226798		CCDS34121.1			1	
ZMYM2	0	LGGM	GRCh37	13	20660045	20660045	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	101	66	.	.	ENST00000382869.3:c.4025C>T	p.Thr1342Met	p.T1342M	ENST00000382869	NM_001190965.1	1342	aCg/aTg	0	1		UPI000013C318	0	NA	ENST00000382871		ENSG00000121741	12989		167	0.345		HGNC	p.T1342M	rs758728168	ZMYM2	6.06E-05	SNV							ENST00000456228	protein_coding	getma.org/?cm=var&var=hg19,13,20660045,C,T&fts=all		Pfam_domain:PF12012,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF73		T/M		T	neutral	4210/5051	1.50E-05	getma.org/?cm=msa&ty=f&p=ZMYM2_HUMAN&rb=1190&re=1361&var=T1342M	deleterious(0)					ZMYM2,missense_variant,p.Thr1342Met,ENST00000382869,NM_001190965.1,NM_003453.3,NM_197968.2;ZMYM2,missense_variant,p.Thr1342Met,ENST00000382874,NM_001190964.1;ZMYM2,missense_variant,p.Thr1342Met,ENST00000382871,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000490422,;ZMYM2,downstream_gene_variant,,ENST00000494061,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000382870,;							MODERATE	4025/4134	T1342M	ZMYM2_HUMAN			Transcript		possibly_damaging(0.865)	.	ENSP00000372324	1.66E-05	CCDS45016.1			1	
ZNF462	0	LGGM	GRCh37	9	109736450	109736450	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050227	H050227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	130	68	.	.	ENST00000277225.5:c.6728A>G	p.His2243Arg	p.H2243R	ENST00000277225		2243	cAc/cGc	0	1	1	UPI0000470106	0	NA	ENST00000277225		ENSG00000148143	21684		198	3.265		HGNC	p.H200R		ZNF462		SNV							ENST00000542028	protein_coding	getma.org/?cm=var&var=hg19,9,109736450,A,G&fts=all		hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,SMART_domains:SM00355		H/R		G	medium	7017/10414		getma.org/?cm=msa&ty=f&p=ZN462_HUMAN&rb=2108&re=2299&var=H2243R		U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,missense_variant,p.His2243Arg,ENST00000277225,;ZNF462,missense_variant,p.His2303Arg,ENST00000457913,NM_021224.4;ZNF462,missense_variant,p.His1186Arg,ENST00000374686,;ZNF462,missense_variant,p.His1149Arg,ENST00000441147,;ZNF462,missense_variant,p.His200Arg,ENST00000542028,;ZNF462,missense_variant,p.His145Arg,ENST00000427098,;RP11-508N12.2,downstream_gene_variant,,ENST00000439901,;ZNF462,non_coding_transcript_exon_variant,,ENST00000469433,;ZNF462,non_coding_transcript_exon_variant,,ENST00000482115,;ZNF462,downstream_gene_variant,,ENST00000479166,;RP11-508N12.3,downstream_gene_variant,,ENST00000444758,;							MODERATE	6728/7521	H2243R	ZN462_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000277225		CCDS35096.1			1	
SLC30A8	0	LGGM	GRCh37	8	118165278	118165278	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	33	77	.	.	ENST00000456015.2:c.367T>A	p.Leu123Met	p.L123M	ENST00000456015	NM_173851.2	123	Ttg/Atg	0	1	1	UPI00001B00D6	0	NA	ENST00000456015		ENSG00000164756	20303		110	1.74		HGNC	p.L74M		SLC30A8		SNV			1				ENST00000521243	protein_coding	getma.org/?cm=var&var=hg19,8,118165278,T,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF37,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Superfamily_domains:0054606		L/M		A	low	367/2520		getma.org/?cm=msa&ty=f&p=ZNT8_HUMAN&rb=74&re=358&var=L123M	tolerated(0.32)	E5RG87_HUMAN			YES	SLC30A8,missense_variant,p.Leu74Met,ENST00000427715,NM_001172815.1,NM_001172813.1;SLC30A8,missense_variant,p.Leu123Met,ENST00000456015,NM_173851.2;SLC30A8,missense_variant,p.Leu74Met,ENST00000521243,NM_001172811.1;SLC30A8,missense_variant,p.Leu74Met,ENST00000519688,NM_001172814.1;SLC30A8,missense_variant,p.Leu74Met,ENST00000524274,;SLC30A8,downstream_gene_variant,,ENST00000518521,;							MODERATE	367/1110	L123M	ZNT8_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000415011		CCDS6322.1			1	
ZFPM2	0	LGGM	GRCh37	8	106811166	106811166	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	400	84	.	.	ENST00000407775.2:c.954T>A	p.Asn318Lys	p.N318K	ENST00000407775	NM_012082.3	318	aaT/aaA	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		484	-0.525		HGNC	p.N186K		ZFPM2		SNV			1				ENST00000520492	protein_coding	getma.org/?cm=var&var=hg19,8,106811166,T,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5,SMART_domains:SM00355		N/K		A	neutral	1204/4700		getma.org/?cm=msa&ty=f&p=FOG2_HUMAN&rb=278&re=340&var=N318K	tolerated(1)	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,missense_variant,p.Asn318Lys,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Asn186Lys,ENST00000520492,;ZFPM2,missense_variant,p.Asn186Lys,ENST00000517361,;ZFPM2,missense_variant,p.Asn49Lys,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							MODERATE	954/3456	N318K	FOG2_HUMAN			Transcript		benign(0.403)	.	ENSP00000384179		CCDS47908.1			1	
ZNF462	0	LGGM	GRCh37	9	109688056	109688056	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050227	H050227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	180	105	.	.	ENST00000277225.5:c.1863T>C	p.His621=	p.H621=	ENST00000277225		621	caT/caC	0	1	1	UPI0000470106	0		ENST00000277225		ENSG00000148143	21684		285			HGNC	p.H621H		ZNF462		SNV							ENST00000277225	protein_coding			SMART_domains:SM00355		H		C		2152/10414				U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,synonymous_variant,p.=,ENST00000277225,;ZNF462,synonymous_variant,p.=,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,;							LOW	1863/7521		ZN462_HUMAN			Transcript			.	ENSP00000277225		CCDS35096.1			1	
LRRC72	0	LGGM	GRCh37	7	16621069	16621069	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050227	H050227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	170	120	.	.	ENST00000401542.2:c.819G>A	p.Glu273=	p.E273=	ENST00000401542	NM_001195280.1	273	gaG/gaA	0	1	1	UPI000173A227	0		ENST00000401542		ENSG00000205858	42972		290			HGNC	p.E273E		LRRC72		SNV							ENST00000401542	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10552:SF11,hmmpanther:PTHR10552		E		A		876/1000							YES	LRRC72,synonymous_variant,p.=,ENST00000401542,NM_001195280.1;AC005014.5,downstream_gene_variant,,ENST00000432006,;							LOW	819/864		LRC72_HUMAN			Transcript			.	ENSP00000384971		CCDS56464.1			1	
PCDH11X	0	LGGM	GRCh37	X	91134056	91134056	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050227	H050227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050227N.bam, H050227T.bam	Illumina HiSeq	89	184	.	.	ENST00000373094.1:c.2817C>A	p.Tyr939Ter	p.Y939*	ENST00000373094	NM_032968.3	939	taC/taA	0	1	1	UPI0000070BD8	0	NA	ENST00000373094		ENSG00000102290	8656		273	0		HGNC	p.Y939X		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91134056,C,A&fts=all		Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15		Y/*		A	NA	3662/9176		NA		Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,stop_gained,p.Tyr939Ter,ENST00000373094,NM_032968.3;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000373097,NM_032969.3;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000395337,NM_032967.2;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000361724,NM_014522.1;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000373088,NM_001168362.1;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000406881,NM_001168360.1;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000504220,NM_001168361.1;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000361655,NM_001168363.1;PCDH11X,stop_gained,p.Tyr939Ter,ENST00000298274,;							HIGH	2817/4044	Y939*	PC11X_HUMAN			Transcript			.	ENSP00000362186		CCDS14461.1			1	
COLQ	0	LGGM	GRCh37	3	15497496	15497496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	2	2	.	.	ENST00000383788.5:c.1105G>T	p.Ala369Ser	p.A369S	ENST00000383788	NM_005677.3	369	Gca/Tca	0	1	1	UPI000013F74C	0	NA	ENST00000383788		ENSG00000206561	2226		4	0.345		HGNC	p.A359S		COLQ		SNV			1				ENST00000383781	protein_coding	getma.org/?cm=var&var=hg19,3,15497496,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF6		A/S		A	neutral	1231/2991		getma.org/?cm=msa&ty=f&p=COLQ_HUMAN&rb=292&re=455&var=A369S	tolerated(0.8)				YES	COLQ,missense_variant,p.Ala369Ser,ENST00000383788,NM_005677.3;COLQ,missense_variant,p.Ala360Ser,ENST00000383787,;COLQ,missense_variant,p.Ala359Ser,ENST00000435459,;COLQ,missense_variant,p.Ala359Ser,ENST00000383781,NM_080538.2;COLQ,missense_variant,p.Ala369Ser,ENST00000603808,;COLQ,missense_variant,p.Ala335Ser,ENST00000383786,NM_080539.3;COLQ,3_prime_UTR_variant,,ENST00000383785,;EAF1-AS1,upstream_gene_variant,,ENST00000608408,;							MODERATE	1105/1368	A369S	COLQ_HUMAN			Transcript		unknown(0)	.	ENSP00000373298		CCDS33709.1			1	
ZBTB10	0	LGGM	GRCh37	8	81398034	81398034	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	7	2	.	.	ENST00000430430.1:c.-647C>A		*216*	ENST00000430430				0	1	1	UPI0000E5AEF3	0		ENST00000430430		ENSG00000205189	30953		9			HGNC	p.R6S		ZBTB10		SNV							ENST00000379091	protein_coding							A		133/10132							YES	ZBTB10,missense_variant,p.Arg6Ser,ENST00000379091,NM_001277145.1;ZBTB10,5_prime_UTR_variant,,ENST00000430430,;ZBTB10,upstream_gene_variant,,ENST00000426744,NM_023929.4;ZBTB10,upstream_gene_variant,,ENST00000455036,NM_001105539.2;Y_RNA,upstream_gene_variant,,ENST00000605948,;Y_RNA,upstream_gene_variant,,ENST00000516058,;							MODIFIER	-/2616		ZBT10_HUMAN			Transcript			.	ENSP00000387462		CCDS47880.1			1	
DLG5	0	LGGM	GRCh37	10	79581071	79581071	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	10	2	.	.	ENST00000372391.2:c.3171C>A	p.Pro1057=	p.P1057=	ENST00000372391	NM_004747.3	1057	ccC/ccA	0	1	1	UPI0000470041	0		ENST00000372391		ENSG00000151208	2904		12			HGNC	p.P1057P		DLG5		SNV							ENST00000372391	protein_coding			hmmpanther:PTHR13865		P		T		3177/7415							YES	DLG5,synonymous_variant,p.=,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,;							LOW	3171/5760		DLG5_HUMAN			Transcript			.	ENSP00000361467		CCDS7353.2			1	
PTN	0	LGGM	GRCh37	7	136938379	136938379	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	8	2	.	.	ENST00000348225.2:c.121A>G	p.Lys41Glu	p.K41E	ENST00000348225	NM_002825.5	41	Aaa/Gaa	0	1	1	UPI000013297B	0	NA	ENST00000348225		ENSG00000105894	9630		10	0.805		HGNC	p.K41E		PTN		SNV							ENST00000393083	protein_coding	getma.org/?cm=var&var=hg19,7,136938379,T,C&fts=all		Superfamily_domains:SSF57288,Gene3D:1mknA00,Pfam_domain:PF05196,hmmpanther:PTHR13850,hmmpanther:PTHR13850:SF1,Low_complexity_(Seg):seg		K/E		C	low	549/1614		getma.org/?cm=msa&ty=f&p=PTN_HUMAN&rb=34&re=95&var=K41E	tolerated(0.11)				YES	PTN,missense_variant,p.Lys41Glu,ENST00000348225,NM_002825.5;PTN,missense_variant,p.Lys41Glu,ENST00000393083,;							MODERATE	121/507	K41E	PTN_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000341170		CCDS5844.1			1	
ANKS4B	0	LGGM	GRCh37	16	21261774	21261774	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	8	2	.	.	ENST00000311620.5:c.887T>G	p.Phe296Cys	p.F296C	ENST00000311620	NM_145865.2	296	tTt/tGt	0	1	1	UPI000013F1C0	0	NA	ENST00000311620		ENSG00000175311	26795		10	2.24		HGNC	p.F296C		ANKS4B		SNV							ENST00000311620	protein_coding	getma.org/?cm=var&var=hg19,16,21261774,T,G&fts=all				F/C		G	medium	960/2936		getma.org/?cm=msa&ty=f&p=ANS4B_HUMAN&rb=129&re=328&var=F296C	deleterious(0.02)				YES	ANKS4B,missense_variant,p.Phe296Cys,ENST00000311620,NM_145865.2;CRYM,intron_variant,,ENST00000570401,;CRYM,intron_variant,,ENST00000574448,;							MODERATE	887/1254	F296C	ANS4B_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000308772		CCDS42130.1			1	
RASSF2	0	LGGM	GRCh37	20	4781666	4781666	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	9	2	.	.	ENST00000379400.3:c.11G>A	p.Ser4Asn	p.S4N	ENST00000379400	NM_014737.2	4	aGc/aAc	0	1		UPI0000001C0A	0	NA	ENST00000379376		ENSG00000101265	9883		11	0.895		HGNC	p.S4N		RASSF2		SNV							ENST00000379376	protein_coding	getma.org/?cm=var&var=hg19,20,4781666,C,T&fts=all		hmmpanther:PTHR22738:SF14,hmmpanther:PTHR22738		S/N		T	low	65/5282		getma.org/?cm=msa&ty=f&p=RASF2_HUMAN&rb=1&re=175&var=S4N	tolerated(0.21)					RASSF2,missense_variant,p.Ser4Asn,ENST00000379400,NM_014737.2;RASSF2,missense_variant,p.Ser4Asn,ENST00000379376,NM_170774.1;							MODERATE	11/981	S4N	RASF2_HUMAN			Transcript		benign(0.02)	.	ENSP00000368684		CCDS13083.1			1	
IQGAP3	0	LGGM	GRCh37	1	156509201	156509201	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	8	2	.	.	ENST00000361170.2:c.3021C>G	p.Leu1007=	p.L1007=	ENST00000361170	NM_178229.4	1007	ctC/ctG	0	1	1	UPI000046FFDD	0		ENST00000361170		ENSG00000183856	20669		10			HGNC	p.L1007L		IQGAP3		SNV							ENST00000361170	protein_coding			PROSITE_profiles:PS50018,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10,SMART_domains:SM00323,Superfamily_domains:SSF48350		L		C		3032/5988				F2Z2E2_HUMAN			YES	IQGAP3,synonymous_variant,p.=,ENST00000361170,NM_178229.4;IQGAP3,non_coding_transcript_exon_variant,,ENST00000498755,;IQGAP3,upstream_gene_variant,,ENST00000476565,;IQGAP3,synonymous_variant,p.=,ENST00000491900,;							LOW	3021/4896		IQGA3_HUMAN			Transcript			.	ENSP00000354451		CCDS1144.1			1	
ATP13A2	0	LGGM	GRCh37	1	17331933	17331933	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	9	2	.	.	ENST00000326735.8:c.224T>A	p.Leu75Gln	p.L75Q	ENST00000326735		75	cTg/cAg	0	1	1	UPI0000049724	0	NA	ENST00000326735		ENSG00000159363	30213		11	2.25		HGNC	p.L75Q		ATP13A2		SNV			1				ENST00000341676	protein_coding	getma.org/?cm=var&var=hg19,1,17331933,A,T&fts=all		Pfam_domain:PF12409,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,TIGRFAM_domain:TIGR01657		L/Q		T	medium	258/3840		getma.org/?cm=msa&ty=f&p=AT132_HUMAN&rb=31&re=169&var=L75Q	deleterious(0.03)	Q8N4D4_HUMAN			YES	ATP13A2,missense_variant,p.Leu75Gln,ENST00000452699,NM_001141973.1,NM_022089.2;ATP13A2,missense_variant,p.Leu75Gln,ENST00000326735,;ATP13A2,missense_variant,p.Leu75Gln,ENST00000341676,NM_001141974.1;ATP13A2,missense_variant,p.Leu51Gln,ENST00000510069,;ATP13A2,missense_variant,p.Leu68Gln,ENST00000509619,;ATP13A2,upstream_gene_variant,,ENST00000511957,;ATP13A2,upstream_gene_variant,,ENST00000508222,;RP1-37C10.3,downstream_gene_variant,,ENST00000446261,;ATP13A2,upstream_gene_variant,,ENST00000463860,;							MODERATE	224/3543	L75Q	AT132_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000327214		CCDS175.1			1	
BSCL2	0	LGGM	GRCh37	11	62460253	62460253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	5	3	.	.	ENST00000433053.1:c.647G>T	p.Arg216Leu	p.R216L	ENST00000433053		216	cGc/cTc	0	1		UPI000005334B	0	NA	ENST00000403550		ENSG00000168000	15832		8	2.135		HGNC	p.R152L		BSCL2		SNV			1				ENST00000407022	protein_coding	getma.org/?cm=var&var=hg19,11,62460253,C,A&fts=all		hmmpanther:PTHR21212,hmmpanther:PTHR21212:SF0,Pfam_domain:PF06775		R/L		A	medium	879/1693		getma.org/?cm=msa&ty=f&p=BSCL2_HUMAN&rb=37&re=243&var=R152L	deleterious(0)	F8W7Q8_HUMAN,E9PRU2_HUMAN				BSCL2,missense_variant,p.Arg216Leu,ENST00000433053,;BSCL2,missense_variant,p.Arg216Leu,ENST00000405837,;BSCL2,missense_variant,p.Arg152Leu,ENST00000403550,;BSCL2,missense_variant,p.Arg216Leu,ENST00000360796,NM_001122955.3;BSCL2,missense_variant,p.Arg152Leu,ENST00000407022,NM_032667.6;BSCL2,missense_variant,p.Arg152Leu,ENST00000421906,;BSCL2,missense_variant,p.Arg152Leu,ENST00000278893,NM_001130702.2;BSCL2,missense_variant,p.Arg152Leu,ENST00000448568,;BSCL2,missense_variant,p.Arg216Leu,ENST00000524862,;BSCL2,missense_variant,p.Arg83Leu,ENST00000531524,;LRRN4CL,upstream_gene_variant,,ENST00000317449,NM_203422.3;BSCL2,downstream_gene_variant,,ENST00000533982,;BSCL2,upstream_gene_variant,,ENST00000449636,;BSCL2,upstream_gene_variant,,ENST00000403098,;BSCL2,downstream_gene_variant,,ENST00000525000,;BSCL2,non_coding_transcript_exon_variant,,ENST00000412351,;BSCL2,non_coding_transcript_exon_variant,,ENST00000526426,;BSCL2,intron_variant,,ENST00000532115,;BSCL2,downstream_gene_variant,,ENST00000537604,;BSCL2,downstream_gene_variant,,ENST00000530900,;HNRNPUL2-BSCL2,3_prime_UTR_variant,,ENST00000403734,;BSCL2,non_coding_transcript_exon_variant,,ENST00000468505,;BSCL2,intron_variant,,ENST00000301781,;BSCL2,upstream_gene_variant,,ENST00000463679,;BSCL2,upstream_gene_variant,,ENST00000470529,;							MODERATE	455/1197	R152L	BSCL2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000385561		CCDS8031.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84705636	84705636	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	2	3	.	.	ENST00000286744.5:c.4866C>A	p.Val1622=	p.V1622=	ENST00000286744	NM_207517.2	1622	gtC/gtA	0	1	1	UPI00001615A5	0		ENST00000286744		ENSG00000156218	14633		5			HGNC	p.V1622V		ADAMTSL3		SNV							ENST00000567476	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00209,Superfamily_domains:SSF82895		V		A		5090/7336							YES	ADAMTSL3,synonymous_variant,p.=,ENST00000286744,NM_207517.2;ADAMTSL3,synonymous_variant,p.=,ENST00000567476,;							LOW	4866/5076		ATL3_HUMAN			Transcript			.	ENSP00000286744		CCDS10326.1			1	
SLC17A4	0	LGGM	GRCh37	6	25770480	25770480	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	39	3	.	.	ENST00000377905.4:c.483G>T	p.Ala161=	p.A161=	ENST00000377905	NM_005495.2	161	gcG/gcT	0	1	1	UPI0000073585	0		ENST00000377905		ENSG00000146039	10932		42			HGNC	p.A161A		SLC17A4		SNV							ENST00000377905	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF25,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		A		T		602/3616							YES	SLC17A4,synonymous_variant,p.=,ENST00000377905,NM_005495.2,NM_001286121.1;SLC17A4,intron_variant,,ENST00000397076,;SLC17A4,intron_variant,,ENST00000439485,;							LOW	483/1494		S17A4_HUMAN			Transcript			.	ENSP00000367137		CCDS4564.1			1	
NELL1	0	LGGM	GRCh37	11	20805311	20805311	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	10	3	.	.	ENST00000357134.5:c.270G>T	p.Leu90Phe	p.L90F	ENST00000357134	NM_201551.1	90	ttG/ttT	0	1	1	UPI000013E53D	0	getma.org/pdb.php?prot=NELL1_HUMAN&from=81&to=230&var=L90F	ENST00000357134		ENSG00000165973	7750		13	2.22		HGNC	p.L90F		NELL1		SNV							ENST00000325319	protein_coding	getma.org/?cm=var&var=hg19,11,20805311,G,T&fts=all		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,Gene3D:2.60.120.200,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899		L/F		T	medium	422/3022		getma.org/?cm=msa&ty=f&p=NELL1_HUMAN&rb=81&re=230&var=L90F	deleterious(0.01)	K9UUD5_HUMAN			YES	NELL1,missense_variant,p.Leu118Phe,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Leu90Phe,ENST00000357134,NM_201551.1,NM_006157.3;NELL1,missense_variant,p.Leu90Phe,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Leu90Phe,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000527873,;NELL1,non_coding_transcript_exon_variant,,ENST00000528046,;NELL1,non_coding_transcript_exon_variant,,ENST00000529595,;NELL1,non_coding_transcript_exon_variant,,ENST00000524738,;							MODERATE	270/2433	L90F	NELL1_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000349654		CCDS7855.1			1	
ALDOC	0	LGGM	GRCh37	17	26901977	26901977	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	29	3	.	.	ENST00000226253.4:c.372C>A	p.Thr124=	p.T124=	ENST00000226253	NM_005165.2	124	acC/acA	0	1	1	UPI0000000C53	0		ENST00000226253		ENSG00000109107	418		32			HGNC	p.T124T		ALDOC		SNV							ENST00000395321	protein_coding			Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF3,Superfamily_domains:SSF51569		T		T		848/1982				K7EKH5_HUMAN,J3QKP5_HUMAN,J3QKK1_HUMAN,J3KSV6_HUMAN,C9J8F3_HUMAN,B7Z1N6_HUMAN			YES	ALDOC,synonymous_variant,p.=,ENST00000226253,NM_005165.2;ALDOC,synonymous_variant,p.=,ENST00000395321,;ALDOC,synonymous_variant,p.=,ENST00000395319,;ALDOC,synonymous_variant,p.=,ENST00000460201,;ALDOC,synonymous_variant,p.=,ENST00000584086,;ALDOC,synonymous_variant,p.=,ENST00000581807,;ALDOC,synonymous_variant,p.=,ENST00000435638,;SPAG5,downstream_gene_variant,,ENST00000321765,NM_006461.3;PIGS,upstream_gene_variant,,ENST00000308360,NM_033198.3;PIGS,upstream_gene_variant,,ENST00000395346,;PIGS,upstream_gene_variant,,ENST00000543734,;ALDOC,downstream_gene_variant,,ENST00000578590,;SPAG5,downstream_gene_variant,,ENST00000582076,;RP11-192H23.5,downstream_gene_variant,,ENST00000585189,;PIGS,upstream_gene_variant,,ENST00000584413,;RP11-192H23.4,intron_variant,,ENST00000481916,;PIGS,upstream_gene_variant,,ENST00000268758,;SPAG5,downstream_gene_variant,,ENST00000580676,;SPAG5,downstream_gene_variant,,ENST00000580406,;SPAG5,downstream_gene_variant,,ENST00000378976,;SPAG5,downstream_gene_variant,,ENST00000581133,;SPAG5,downstream_gene_variant,,ENST00000582175,;SPAG5,downstream_gene_variant,,ENST00000577259,;SPAG5,downstream_gene_variant,,ENST00000580682,;PIGS,upstream_gene_variant,,ENST00000582721,;PIGS,upstream_gene_variant,,ENST00000584080,;ALDOC,downstream_gene_variant,,ENST00000582381,;PIGS,upstream_gene_variant,,ENST00000583631,;SPAG5,downstream_gene_variant,,ENST00000580377,;PIGS,upstream_gene_variant,,ENST00000577594,;SPAG5,downstream_gene_variant,,ENST00000578230,;							LOW	372/1095		ALDOC_HUMAN			Transcript			.	ENSP00000226253		CCDS11236.1			1	
ITGB3	0	LGGM	GRCh37	17	45360802	45360802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	34	3	.	.	ENST00000559488.1:c.248C>A	p.Pro83Gln	p.P83Q	ENST00000559488	NM_000212.2	83	cCa/cAa	0	1	1	UPI000013D240	0	getma.org/pdb.php?prot=ITB3_HUMAN&from=38&to=461&var=P83Q	ENST00000559488		ENSG00000259207	6156		37	3.67		HGNC	p.P83Q		ITGB3		SNV			1				ENST00000262017	protein_coding	getma.org/?cm=var&var=hg19,17,45360802,C,A&fts=all		hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF103575,Prints_domain:PR01186		P/Q		A	high	264/3995		getma.org/?cm=msa&ty=f&p=ITB3_HUMAN&rb=38&re=461&var=P83Q	deleterious(0)	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN			YES	ITGB3,missense_variant,p.Pro83Gln,ENST00000559488,NM_000212.2;ITGB3,missense_variant,p.Pro36Gln,ENST00000435993,;ITGB3,missense_variant,p.Pro83Gln,ENST00000571680,;ITGB3,missense_variant,p.Pro72Gln,ENST00000560629,;							MODERATE	248/2367	P83Q	ITB3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000452786		CCDS11511.1			1	
RIPK4	0	LGGM	GRCh37	21	43161879	43161879	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	14	4	.	.	ENST00000332512.3:c.1474G>A	p.Ala492Thr	p.A492T	ENST00000332512	NM_020639.2	492	Gcg/Acg	0	1		UPI0000125B50	0	getma.org/pdb.php?prot=RIPK4_HUMAN&from=458&to=549&var=A540T	ENST00000352483		ENSG00000183421	496		18	0.69		HGNC	p.A540T	rs143721038	RIPK4		SNV	A:0		1				ENST00000352483	protein_coding	getma.org/?cm=var&var=hg19,21,43161879,C,T&fts=all		Low_complexity_(Seg):seg,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		A/T	A:0.0001	T	neutral	1683/4017	1.50E-05	getma.org/?cm=msa&ty=f&p=RIPK4_HUMAN&rb=458&re=549&var=A540T	tolerated(0.22)					RIPK4,missense_variant,p.Ala540Thr,ENST00000352483,;RIPK4,missense_variant,p.Ala492Thr,ENST00000332512,NM_020639.2;RIPK4,missense_variant,p.Ala429Thr,ENST00000544709,;RIPK4,missense_variant,p.Ala429Thr,ENST00000542057,;AP001615.9,downstream_gene_variant,,ENST00000423276,;							MODERATE	1618/2499	A540T	RIPK4_HUMAN			Transcript		benign(0.02)	.	ENSP00000330161	8.24E-06				1	
TRPM6	0	LGGM	GRCh37	9	77352346	77352346	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	7	4	.	.	ENST00000360774.1:c.5776+977A>G		*1926*	ENST00000360774	NM_017662.4			0	1	1	UPI000006E041	0		ENST00000360774		ENSG00000119121	17995		11			HGNC	p.M1937V		TRPM6		SNV			1				ENST00000376864	protein_coding							C		-/8425							YES	TRPM6,missense_variant,p.Met1937Val,ENST00000376864,;TRPM6,intron_variant,,ENST00000451710,;TRPM6,intron_variant,,ENST00000360774,NM_017662.4;TRPM6,intron_variant,,ENST00000361255,NM_001177311.1;TRPM6,intron_variant,,ENST00000449912,NM_001177310.1;TRPM6,intron_variant,,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;							MODIFIER	-/6069		TRPM6_HUMAN			Transcript			.	ENSP00000354006		CCDS6647.1			1	
MMRN1	0	LGGM	GRCh37	4	90857691	90857691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	14	4	.	.	ENST00000394980.1:c.2860C>A	p.Pro954Thr	p.P954T	ENST00000394980		954	Cca/Aca	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		18	1.5		HGNC	p.P696T	rs771291171	MMRN1	0.000122	SNV							ENST00000508372	protein_coding	getma.org/?cm=var&var=hg19,4,90857691,C,A&fts=all		hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427		P/T		A	low	2931/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=945&re=1044&var=P954T	deleterious(0.03)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Pro954Thr,ENST00000394980,;MMRN1,missense_variant,p.Pro954Thr,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Pro696Thr,ENST00000508372,;MMRN1,intron_variant,,ENST00000394981,;							MODERATE	2860/3687	P954T	MMRN1_HUMAN			Transcript		benign(0.266)	.	ENSP00000264790	1.65E-05	CCDS3635.1			1	
GRN	0	LGGM	GRCh37	17	42428957	42428957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	10	4	.	.	ENST00000053867.3:c.973G>T	p.Gly325Trp	p.G325W	ENST00000053867	NM_002087.2	325	Ggg/Tgg	0	1	1	UPI00000015E0	0	getma.org/pdb.php?prot=GRN_HUMAN&from=295&to=337&var=G325W	ENST00000053867		ENSG00000030582	4601		14	3.11		HGNC	p.G168W		GRN		SNV			1				ENST00000589265	protein_coding	getma.org/?cm=var&var=hg19,17,42428957,G,T&fts=all		Pfam_domain:PF00396,PROSITE_patterns:PS00799,hmmpanther:PTHR12274,SMART_domains:SM00277		G/W		T	medium	1035/2148		getma.org/?cm=msa&ty=f&p=GRN_HUMAN&rb=295&re=337&var=G325W	deleterious(0.01)	K7EQK6_HUMAN,K7EQA7_HUMAN,K7ENN1_HUMAN,K7ENI2_HUMAN,K7EM89_HUMAN,K7ELY1_HUMAN,K7EK92_HUMAN,K7EJY4_HUMAN			YES	GRN,missense_variant,p.Gly325Trp,ENST00000053867,NM_002087.2;GRN,missense_variant,p.Gly168Trp,ENST00000589265,;GRN,missense_variant,p.Gly139Trp,ENST00000586443,;FAM171A2,downstream_gene_variant,,ENST00000293443,NM_198475.2;GRN,downstream_gene_variant,,ENST00000593167,;GRN,upstream_gene_variant,,ENST00000586242,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000585512,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,non_coding_transcript_exon_variant,,ENST00000589923,;GRN,non_coding_transcript_exon_variant,,ENST00000585348,;FAM171A2,downstream_gene_variant,,ENST00000589407,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000586782,;GRN,downstream_gene_variant,,ENST00000588170,;GRN,downstream_gene_variant,,ENST00000590984,;GRN,downstream_gene_variant,,ENST00000587958,;GRN,downstream_gene_variant,,ENST00000592323,;							MODERATE	973/1782	G325W	GRN_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000053867		CCDS11483.1			1	
ASH1L	0	LGGM	GRCh37	1	155340603	155340603	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	19	4	.	.	ENST00000392403.3:c.6504A>G	p.Glu2168=	p.E2168=	ENST00000392403	NM_018489.2	2168	gaA/gaG	0	1		UPI000013D5D2	0		ENST00000368346		ENSG00000116539	19088		23			HGNC	p.E2168E		ASH1L		SNV							ENST00000392403	protein_coding			PROSITE_profiles:PS50280,hmmpanther:PTHR22884:SF311,hmmpanther:PTHR22884,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199		E		C		7159/11942								ASH1L,synonymous_variant,p.=,ENST00000368346,;ASH1L,synonymous_variant,p.=,ENST00000392403,NM_018489.2;ASH1L,non_coding_transcript_exon_variant,,ENST00000477427,;							LOW	6519/8910		ASH1L_HUMAN			Transcript			.	ENSP00000357330					1	
FAM227B	0	LGGM	GRCh37	15	49860480	49860480	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	17	4	.	.	ENST00000299338.6:c.709A>G	p.Met237Val	p.M237V	ENST00000299338	NM_152647.2	237	Atg/Gtg	0	1	1	UPI0000D6133A	0	NA	ENST00000299338		ENSG00000166262	26543		21	1.995		HGNC	p.M237V		FAM227B		SNV							ENST00000299338	protein_coding	getma.org/?cm=var&var=hg19,15,49860480,T,C&fts=all		Pfam_domain:PF14922		M/V		C	medium	1013/2008		getma.org/?cm=msa&ty=f&p=CO033_HUMAN&rb=1&re=507&var=M237V	tolerated(0.12)	H0YLX5_HUMAN			YES	FAM227B,missense_variant,p.Met237Val,ENST00000299338,NM_152647.2;FAM227B,intron_variant,,ENST00000561064,;							MODERATE	709/1527	M237V	F227B_HUMAN			Transcript		benign(0.294)	.	ENSP00000299338		CCDS32237.1			1	
SLC25A24	0	LGGM	GRCh37	1	108700124	108700124	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	31	4	.	.	ENST00000565488.1:c.629C>G	p.Thr210Arg	p.T210R	ENST00000565488	NM_013386.4	210	aCa/aGa	0	1	1	UPI0000206111	0	getma.org/pdb.php?prot=SCMC1_HUMAN&from=190&to=283&var=T210R	ENST00000565488		ENSG00000085491	20662		35	4.495		HGNC	p.T210R		SLC25A24		SNV							ENST00000565488	protein_coding	getma.org/?cm=var&var=hg19,1,108700124,G,C&fts=all		Prints_domain:PR00926,Prints_domain:PR00926,Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF262,hmmpanther:PTHR24089,PROSITE_profiles:PS50920		T/R		C	high	849/4271		getma.org/?cm=msa&ty=f&p=SCMC1_HUMAN&rb=190&re=283&var=T210R	deleterious(0)				YES	SLC25A24,missense_variant,p.Thr210Arg,ENST00000565488,NM_013386.4;SLC25A24,missense_variant,p.Thr191Arg,ENST00000370041,NM_213651.2;SLC25A24,3_prime_UTR_variant,,ENST00000264128,;							MODERATE	629/1434	T210R	SCMC1_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000457733		CCDS41361.1			1	
UNC79	0	LGGM	GRCh37	14	94125553	94125553	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	12	5	.	.	ENST00000256339.4:c.6057C>T	p.Ser2019=	p.S2019=	ENST00000256339	NM_020818.3	2019	tcC/tcT	0	1		UPI00021CF3DC	0		ENST00000393151		ENSG00000133958	19966		17			HGNC	p.S2019S		UNC79		SNV							ENST00000256339	protein_coding			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		S		T		6588/7908								UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;							LOW	6588/7908		UNC79_HUMAN			Transcript			.	ENSP00000376858					1	
DNAH1	0	LGGM	GRCh37	3	52418926	52418928	+	inframe_deletion	In_Frame_Del	DEL	TCC	TCC	-	novel	by Submitter	H050250	H050250N.bam	TCC	TCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	15	6	.	.	ENST00000420323.2:c.8449_8451del	p.Leu2817del	p.L2817del	ENST00000420323	NM_015512.4	2816	aTCCtc/atc	0	1	1	UPI0001AE79D6	0		ENST00000420323		ENSG00000114841	2940		21			HGNC	p.2816_2817del	rs756612079	DNAH1		deletion	-:0.0005		1				ENST00000420323	protein_coding			Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137,Superfamily_domains:SSF52540		IL/I	-:0.0004	-		8708-8710/13104	1.62E-05						YES	DNAH1,inframe_deletion,p.Leu2817del,ENST00000420323,NM_015512.4;DNAH1,upstream_gene_variant,,ENST00000480649,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000490713,;							MODERATE	8447-8449/12798		DYH1_HUMAN			Transcript	2		.	ENSP00000401514	8.27E-06	CCDS46842.1			1	
NUP210L	0	LGGM	GRCh37	1	154042774	154042774	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	35	6	.	.	ENST00000368559.3:c.2529T>C	p.Asp843=	p.D843=	ENST00000368559	NM_207308.2	843	gaT/gaC	0	1	1	UPI000023724F	0		ENST00000368559		ENSG00000143552	29915		41			HGNC	p.D843D		NUP210L		SNV							ENST00000368559	protein_coding			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019		D		G		2601/5889							YES	NUP210L,synonymous_variant,p.=,ENST00000368559,NM_207308.2;NUP210L,synonymous_variant,p.=,ENST00000271854,NM_001159484.1;							LOW	2529/5667		P210L_HUMAN			Transcript			.	ENSP00000357547		CCDS41399.1			1	
EFTUD1	0	LGGM	GRCh37	15	82422859	82422859	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	18	6	.	.	ENST00000268206.7:c.3218A>C	p.Glu1073Ala	p.E1073A	ENST00000268206	NM_024580.5	1073	gAa/gCa	0	1	1	UPI00001FEA35	0	NA	ENST00000268206		ENSG00000140598	25789		24	3.38		HGNC	p.E1073A		EFTUD1		SNV							ENST00000268206	protein_coding	getma.org/?cm=var&var=hg19,15,82422859,T,G&fts=all		Superfamily_domains:SSF54980,Gene3D:3.30.70.240,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF3		E/A		G	medium	3387/3675		getma.org/?cm=msa&ty=f&p=ETUD1_HUMAN&rb=1067&re=1120&var=E1073A	deleterious(0)	H0YNW8_HUMAN			YES	EFTUD1,missense_variant,p.Glu1073Ala,ENST00000268206,NM_024580.5;EFTUD1,missense_variant,p.Glu1022Ala,ENST00000359445,NM_001040610.2;							MODERATE	3218/3363	E1073A	ETUD1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000268206		CCDS42071.1			1	
NALCN	0	LGGM	GRCh37	13	101728230	101728230	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	8	6	.	.	ENST00000251127.6:c.3948A>T	p.Gly1316=	p.G1316=	ENST00000251127	NM_052867.2	1316	ggA/ggT	0	1	1	UPI000004EBBD	0		ENST00000251127		ENSG00000102452	19082		14			HGNC	p.G1316G		NALCN		SNV			1				ENST00000251127	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324		G		A		4030/6816				B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;							LOW	3948/5217		NALCN_HUMAN			Transcript			.	ENSP00000251127		CCDS9498.1			1	
ZC3H12B	0	LGGM	GRCh37	X	64722637	64722637	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	42	6	.	.	ENST00000338957.4:c.2059G>T	p.Gly687Trp	p.G687W	ENST00000338957	NM_001010888.3	687	Ggg/Tgg	0	1	1	UPI00001D7BEA	0	NA	ENST00000338957		ENSG00000102053	17407		48	0.69		HGNC	p.G687W		ZC3H12B		SNV							ENST00000338957	protein_coding	getma.org/?cm=var&var=hg19,X,64722637,G,T&fts=all		hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876		G/W		T	neutral	2126/7256		getma.org/?cm=msa&ty=f&p=ZC12B_HUMAN&rb=377&re=823&var=G676W	deleterious(0.01)	E9PAJ6_HUMAN			YES	ZC3H12B,missense_variant,p.Gly687Trp,ENST00000338957,NM_001010888.3;ZC3H12B,missense_variant,p.Gly676Trp,ENST00000423889,;							MODERATE	2059/2511	G676W				Transcript		possibly_damaging(0.599)	.	ENSP00000340839		CCDS48131.2			1	
SPIRE1	0	LGGM	GRCh37	18	12506544	12506544	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	30	6	.	.	ENST00000409402.4:c.904C>G	p.Gln302Glu	p.Q302E	ENST00000409402	NM_001128626.1	302	Cag/Gag	0	1	1	UPI00001C1FFE	0	NA	ENST00000409402		ENSG00000134278	30622		36	0.29		HGNC	p.Q302E		SPIRE1		SNV							ENST00000409402	protein_coding	getma.org/?cm=var&var=hg19,18,12506544,G,C&fts=all		hmmpanther:PTHR21345,hmmpanther:PTHR21345:SF2		Q/E		C	neutral	1172/5665		getma.org/?cm=msa&ty=f&p=SPIR1_HUMAN&rb=35&re=754&var=Q302E	deleterious(0.02)	Q96AS4_HUMAN,K7EQR2_HUMAN,C9JYR7_HUMAN			YES	SPIRE1,missense_variant,p.Gln302Glu,ENST00000409402,NM_001128626.1;SPIRE1,missense_variant,p.Gln302Glu,ENST00000410092,NM_020148.2;SPIRE1,missense_variant,p.Gln182Glu,ENST00000453447,NM_001128627.1;SPIRE1,missense_variant,p.Gln143Glu,ENST00000383356,;SPIRE1,missense_variant,p.Gln105Glu,ENST00000309836,;SPIRE1,missense_variant,p.Gln182Glu,ENST00000449797,;SPIRE1,non_coding_transcript_exon_variant,,ENST00000487491,;SPIRE1,missense_variant,p.Gln143Glu,ENST00000440472,;SPIRE1,upstream_gene_variant,,ENST00000592156,;							MODERATE	904/2271	Q302E	SPIR1_HUMAN			Transcript		benign(0.03)	.	ENSP00000387266		CCDS45829.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81667391	81667391	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	32	7	.	.	ENST00000356860.3:c.1038+2T>G		p.X346_splice	ENST00000356860	NM_000722.2			0	1		UPI0001B9E74B	0		ENST00000356253		ENSG00000153956	1399		39			HGNC	-		CACNA2D1		SNV			1				ENST00000356860	protein_coding							C		-/3858				Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,splice_donor_variant,,ENST00000356860,NM_000722.2;CACNA2D1,splice_donor_variant,,ENST00000356253,;CACNA2D1,splice_donor_variant,,ENST00000492734,;							HIGH	1038/3312		CA2D1_HUMAN			Transcript			.	ENSP00000348589					1	
MMRN1	0	LGGM	GRCh37	4	90816445	90816445	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	14	7	.	.	ENST00000394980.1:c.323G>A	p.Gly108Glu	p.G108E	ENST00000394980		108	gGa/gAa	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		21	1.78		HGNC	p.G108E		MMRN1		SNV							ENST00000264790	protein_coding	getma.org/?cm=var&var=hg19,4,90816445,G,A&fts=all				G/E		A	low	394/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=1&re=199&var=G108E	tolerated_low_confidence(0.29)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Gly108Glu,ENST00000394980,;MMRN1,missense_variant,p.Gly108Glu,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Gly74Glu,ENST00000394981,;							MODERATE	323/3687	G108E	MMRN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000264790		CCDS3635.1			1	
MINA	0	LGGM	GRCh37	3	97686196	97686196	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	77	7	.	.	ENST00000333396.7:c.242T>A	p.Phe81Tyr	p.F81Y	ENST00000333396	NM_001042533.2	81	tTc/tAc	0	1	1	UPI0000074784	0	getma.org/pdb.php?prot=MINA_HUMAN&from=51&to=364&var=F81Y	ENST00000333396		ENSG00000170854	19441		84	2.735		HGNC	p.F81Y		MINA		SNV							ENST00000360258	protein_coding	getma.org/?cm=var&var=hg19,3,97686196,A,T&fts=all		hmmpanther:PTHR13096,Gene3D:1vrbA01,Pfam_domain:PF08007,Superfamily_domains:SSF51197		F/Y		T	medium	825/5347		getma.org/?cm=msa&ty=f&p=MINA_HUMAN&rb=51&re=364&var=F81Y	deleterious(0)	D6RCB6_HUMAN			YES	MINA,missense_variant,p.Phe81Tyr,ENST00000333396,NM_001042533.2,NM_032778.5;MINA,missense_variant,p.Phe81Tyr,ENST00000394198,NM_001261829.1,NM_153182.3;MINA,missense_variant,p.Phe81Tyr,ENST00000360258,;MINA,missense_variant,p.Phe81Tyr,ENST00000330299,;MINA,missense_variant,p.Phe81Tyr,ENST00000506099,;MINA,missense_variant,p.Phe81Tyr,ENST00000514314,;							MODERATE	242/1398	F81Y	MINA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328251		CCDS43114.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102461522	102461522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	36	7	.	.	ENST00000360184.4:c.3449G>A	p.Arg1150His	p.R1150H	ENST00000360184	NM_001376.4	1150	cGc/cAc	0	1	1	UPI00001B515A	0	NA	ENST00000360184		ENSG00000197102	2961		43	3.195		HGNC	p.R1150H		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102461522,G,A&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676		R/H		A	medium	3613/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=1035&re=1188&var=R1150H		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Arg1150His,ENST00000360184,NM_001376.4;							MODERATE	3449/13941	R1150H	DYHC1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000348965		CCDS9966.1			1	
PRKD1	0	LGGM	GRCh37	14	30102152	30102152	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	14	7	.	.	ENST00000331968.5:c.1315C>T	p.Arg439Trp	p.R439W	ENST00000331968	NM_002742.2	439	Cgg/Tgg	0	1	1	UPI0000456761	0	getma.org/pdb.php?prot=KPCD1_HUMAN&from=423&to=541&var=R439W	ENST00000331968		ENSG00000184304	9407		21	2.865		HGNC	p.R447W	rs775376594,COSM1263093,COSM1263092	PRKD1		SNV			1			0,1,1	ENST00000415220	protein_coding	getma.org/?cm=var&var=hg19,14,30102152,G,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PIRSF_domain:PIRSF000552,PROSITE_profiles:PS50003,hmmpanther:PTHR22968,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/W		A	medium	1545/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=423&re=541&var=R439W	deleterious(0)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Arg439Trp,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Arg447Trp,ENST00000415220,;PRKD1,missense_variant,p.Arg20Trp,ENST00000546371,;PRKD1,downstream_gene_variant,,ENST00000551644,;	0.000232				0,1,1		MODERATE	1315/2739	R439W	KPCD1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000333568	1.65E-05	CCDS9637.1			1	
CRNN	0	LGGM	GRCh37	1	152382752	152382752	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	37	8	.	.	ENST00000271835.3:c.806A>T	p.Glu269Val	p.E269V	ENST00000271835	NM_016190.2	269	gAg/gTg	0	1	1	UPI000006E106	0	NA	ENST00000271835		ENSG00000143536	1230		45	1.04		HGNC	p.E269V		CRNN		SNV							ENST00000271835	protein_coding	getma.org/?cm=var&var=hg19,1,152382752,T,A&fts=all		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26		E/V		A	low	869/1902		getma.org/?cm=msa&ty=f&p=CRNN_HUMAN&rb=111&re=494&var=E269V	tolerated(0.09)				YES	CRNN,missense_variant,p.Glu269Val,ENST00000271835,NM_016190.2;RP1-91G5.3,intron_variant,,ENST00000411804,;							MODERATE	806/1488	E269V	CRNN_HUMAN			Transcript		benign(0.086)	.	ENSP00000271835		CCDS1010.1			1	
CTNNA3	0	LGGM	GRCh37	10	67748511	67748511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	24	8	.	.	ENST00000433211.2:c.2204C>T	p.Ala735Val	p.A735V	ENST00000433211	NM_013266.2	735	gCg/gTg	0	1	1	UPI000004A0E6	0	getma.org/pdb.php?prot=CTNA3_HUMAN&from=328&to=856&var=A735V	ENST00000433211		ENSG00000183230	2511		32	3.08		HGNC	p.A735V		CTNNA3		SNV			1				ENST00000433211	protein_coding	getma.org/?cm=var&var=hg19,10,67748511,G,A&fts=all		hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044,Gene3D:1.20.120.230,Superfamily_domains:SSF47220		A/V		A	medium	2379/10675		getma.org/?cm=msa&ty=f&p=CTNA3_HUMAN&rb=328&re=856&var=A735V	deleterious(0.02)	Q5SW23_HUMAN,A6NKP0_HUMAN			YES	CTNNA3,missense_variant,p.Ala735Val,ENST00000433211,NM_013266.2;CTNNA3,missense_variant,p.Ala735Val,ENST00000373744,NM_001127384.1;CTNNA3,non_coding_transcript_exon_variant,,ENST00000373735,;							MODERATE	2204/2688	A735V	CTNA3_HUMAN			Transcript		unknown(0)	.	ENSP00000389714		CCDS7269.1			1	
CRNN	0	LGGM	GRCh37	1	152382746	152382746	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	35	8	.	.	ENST00000271835.3:c.812A>T	p.His271Leu	p.H271L	ENST00000271835	NM_016190.2	271	cAc/cTc	0	1	1	UPI000006E106	0	NA	ENST00000271835		ENSG00000143536	1230		43	0.805		HGNC	p.H271L		CRNN		SNV							ENST00000271835	protein_coding	getma.org/?cm=var&var=hg19,1,152382746,T,A&fts=all		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26		H/L		A	low	875/1902		getma.org/?cm=msa&ty=f&p=CRNN_HUMAN&rb=111&re=494&var=H271L	deleterious(0.01)				YES	CRNN,missense_variant,p.His271Leu,ENST00000271835,NM_016190.2;RP1-91G5.3,intron_variant,,ENST00000411804,;							MODERATE	812/1488	H271L	CRNN_HUMAN			Transcript		benign(0.221)	.	ENSP00000271835		CCDS1010.1			1	
TTN	0	LGGM	GRCh37	2	179612959	179612959	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	23	9	.	.	ENST00000589042.1:c.11311+4892C>G		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		32	1.355		HGNC	p.S4723C		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179612959,G,C&fts=all						C	low	-/104301		getma.org/?cm=msa&ty=f&p=Q8N237_HUMAN&rb=1&re=399&var=S37C		C9JQJ2_HUMAN				TTN,missense_variant,p.Ser4723Cys,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,;							MODIFIER	-/103053	S37C	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
C2orf16	0	LGGM	GRCh37	2	27800393	27800393	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	19	9	.	.	ENST00000408964.2:c.954T>C	p.Cys318=	p.C318=	ENST00000408964	NM_032266.3	318	tgT/tgC	0	1	1	UPI0000D61179	0		ENST00000408964		ENSG00000221843	25275		28			HGNC	p.C318C		C2orf16		SNV							ENST00000408964	protein_coding					C		C		1005/6200							YES	C2orf16,synonymous_variant,p.=,ENST00000408964,NM_032266.3;AC074091.1,downstream_gene_variant,,ENST00000408604,;							LOW	954/5955		CB016_HUMAN			Transcript			.	ENSP00000386190		CCDS42666.1			1	
NUP54	0	LGGM	GRCh37	4	77057354	77057354	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	36	9	.	.	ENST00000264883.3:c.507C>G	p.Pro169=	p.P169=	ENST00000264883	NM_001278603.1	169	ccC/ccG	0	1	1	UPI0000036166	0		ENST00000264883		ENSG00000138750	17359		45			HGNC	p.P169P		NUP54		SNV							ENST00000264883	protein_coding			hmmpanther:PTHR13000		P		C		648/2367				Q53H29_HUMAN,E7EUM5_HUMAN			YES	NUP54,synonymous_variant,p.=,ENST00000264883,NM_001278603.1,NM_017426.3;NUP54,synonymous_variant,p.=,ENST00000514987,;NUP54,5_prime_UTR_variant,,ENST00000342467,;NUP54,intron_variant,,ENST00000458189,;NUP54,non_coding_transcript_exon_variant,,ENST00000515460,;NUP54,non_coding_transcript_exon_variant,,ENST00000514307,;NUP54,downstream_gene_variant,,ENST00000506098,;NUP54,intron_variant,,ENST00000507257,;NUP54,intron_variant,,ENST00000502850,;NUP54,intron_variant,,ENST00000512151,;NUP54,intron_variant,,ENST00000504173,;NUP54,upstream_gene_variant,,ENST00000514313,;							LOW	507/1524		NUP54_HUMAN			Transcript			.	ENSP00000264883		CCDS3576.1			1	
PI4K2A	0	LGGM	GRCh37	10	99433364	99433364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	35	10	.	.	ENST00000370631.3:c.1305A>T	p.Lys435Asn	p.K435N	ENST00000370631	NM_018425.2	435	aaA/aaT	0	1	1	UPI0000071D95	0	NA	ENST00000370631		ENSG00000155252	30031		45	2.35		HGNC	p.K435N		PI4K2A		SNV							ENST00000370631	protein_coding	getma.org/?cm=var&var=hg19,10,99433364,A,T&fts=all		Pfam_domain:PF00454,hmmpanther:PTHR12865,hmmpanther:PTHR12865:SF4		K/N		T	medium	1362/4189		getma.org/?cm=msa&ty=f&p=P4K2A_HUMAN&rb=133&re=438&var=K435N	deleterious(0.01)				YES	PI4K2A,missense_variant,p.Lys435Asn,ENST00000370631,NM_018425.2;PI4K2A,missense_variant,p.Lys405Asn,ENST00000370649,;PI4K2A,missense_variant,p.Lys405Asn,ENST00000555577,;AVPI1,downstream_gene_variant,,ENST00000370626,NM_021732.2;							MODERATE	1305/1440	K435N	P4K2A_HUMAN			Transcript		benign(0.314)	.	ENSP00000359665		CCDS7469.1			1	
CACNA1B	0	LGGM	GRCh37	9	140811880	140811880	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	34	10	.	.	ENST00000371372.1:c.963T>G	p.Tyr321Ter	p.Y321*	ENST00000371372	NM_001243812.1	321	taT/taG	0	1	1	UPI0000127267	0	NA	ENST00000371372		ENSG00000148408	1389		44	0		HGNC	p.Y321X		CACNA1B		SNV							ENST00000371363	protein_coding	getma.org/?cm=var&var=hg19,9,140811880,T,G&fts=all		Prints_domain:PR00167,Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037		Y/*		G	NA	1108/9790		NA		Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN			YES	CACNA1B,stop_gained,p.Tyr321Ter,ENST00000371372,NM_001243812.1,NM_000718.3;CACNA1B,stop_gained,p.Tyr321Ter,ENST00000371363,;CACNA1B,stop_gained,p.Tyr321Ter,ENST00000371355,;CACNA1B,stop_gained,p.Tyr321Ter,ENST00000371357,;CACNA1B,stop_gained,p.Tyr321Ter,ENST00000277551,;CACNA1B,5_prime_UTR_variant,,ENST00000277549,;							HIGH	963/7020	Y321*	CAC1B_HUMAN			Transcript			.	ENSP00000360423		CCDS59522.1			1	
KBTBD12	0	LGGM	GRCh37	3	127642430	127642430	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	28	10	.	.	ENST00000405109.1:c.526C>A	p.Gln176Lys	p.Q176K	ENST00000405109		176	Caa/Aaa	0	1	1	UPI00001D802F	0	getma.org/pdb.php?prot=KBTBC_HUMAN&from=133&to=235&var=Q176K	ENST00000405109		ENSG00000187715	25731		38	2.145		HGNC	p.Q176K		KBTBD12		SNV							ENST00000405256	protein_coding	getma.org/?cm=var&var=hg19,3,127642430,C,A&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,SMART_domains:SM00875		Q/K		A	medium	993/5727		getma.org/?cm=msa&ty=f&p=KBTBC_HUMAN&rb=133&re=235&var=Q176K	tolerated(0.33)	B5MCZ4_HUMAN			YES	KBTBD12,missense_variant,p.Gln176Lys,ENST00000405109,;KBTBD12,missense_variant,p.Gln176Lys,ENST00000405256,NM_207335.2;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,intron_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;							MODERATE	526/1872	Q176K	KBTBC_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000385957		CCDS33848.2			1	
TAAR8	0	LGGM	GRCh37	6	132874418	132874418	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	16	11	.	.	ENST00000275200.1:c.587G>A	p.Gly196Asp	p.G196D	ENST00000275200	NM_053278.1	196	gGc/gAc	0	1	1	UPI000000D87F	0	getma.org/pdb.php?prot=TAAR8_HUMAN&from=48&to=310&var=G196D	ENST00000275200		ENSG00000146385	14964		27	0.395		HGNC	p.G196D		TAAR8		SNV							ENST00000275200	protein_coding	getma.org/?cm=var&var=hg19,6,132874418,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF253,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		G/D		A	neutral	587/1029		getma.org/?cm=msa&ty=f&p=TAAR8_HUMAN&rb=48&re=310&var=G196D	tolerated(0.22)				YES	TAAR8,missense_variant,p.Gly196Asp,ENST00000275200,NM_053278.1;							MODERATE	587/1029	G196D	TAAR8_HUMAN			Transcript		benign(0.004)	.	ENSP00000275200		CCDS5154.1			1	
DNAH7	0	LGGM	GRCh37	2	196723374	196723374	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	26	11	.	.	ENST00000312428.6:c.7891G>T	p.Glu2631Ter	p.E2631*	ENST00000312428	NM_018897.2	2631	Gag/Tag	0	1	1	UPI0000141B95	0	NA	ENST00000312428		ENSG00000118997	18661		37	0		HGNC	p.E2631X		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196723374,C,A&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12777		E/*		A	NA	7992/12394		NA		C9JUY3_HUMAN			YES	DNAH7,stop_gained,p.Glu2631Ter,ENST00000312428,NM_018897.2;							HIGH	7891/12075	E2631*	DYH7_HUMAN			Transcript			.	ENSP00000311273		CCDS42794.1			1	
KBTBD12	0	LGGM	GRCh37	3	127642429	127642429	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	27	11	.	.	ENST00000405109.1:c.525C>A	p.His175Gln	p.H175Q	ENST00000405109		175	caC/caA	0	1	1	UPI00001D802F	0	getma.org/pdb.php?prot=KBTBC_HUMAN&from=133&to=235&var=H175Q	ENST00000405109		ENSG00000187715	25731		38	-0.02		HGNC	p.H175Q		KBTBD12		SNV							ENST00000405256	protein_coding	getma.org/?cm=var&var=hg19,3,127642429,C,A&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,SMART_domains:SM00875		H/Q		A	neutral	992/5727		getma.org/?cm=msa&ty=f&p=KBTBC_HUMAN&rb=133&re=235&var=H175Q	tolerated(0.5)	B5MCZ4_HUMAN			YES	KBTBD12,missense_variant,p.His175Gln,ENST00000405109,;KBTBD12,missense_variant,p.His175Gln,ENST00000405256,NM_207335.2;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,intron_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;							MODERATE	525/1872	H175Q	KBTBC_HUMAN			Transcript		benign(0.004)	.	ENSP00000385957		CCDS33848.2			1	
INPP4B	0	LGGM	GRCh37	4	143114349	143114349	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	32	12	.	.	ENST00000262992.4:c.1073-1G>A		p.X358_splice	ENST00000262992	NM_001101669.1			0	1		UPI000013D37A	0		ENST00000262992		ENSG00000109452	6075		44			HGNC	-		INPP4B		SNV							ENST00000513000	protein_coding							T		-/3741				E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN				INPP4B,splice_acceptor_variant,,ENST00000513000,NM_003866.2;INPP4B,splice_acceptor_variant,,ENST00000509777,;INPP4B,splice_acceptor_variant,,ENST00000262992,NM_001101669.1;INPP4B,splice_acceptor_variant,,ENST00000508116,;INPP4B,splice_acceptor_variant,,ENST00000308502,;INPP4B,splice_acceptor_variant,,ENST00000510812,;INPP4B,splice_acceptor_variant,,ENST00000511838,;INPP4B,splice_acceptor_variant,,ENST00000514525,;INPP4B,splice_acceptor_variant,,ENST00000512630,;							HIGH	1073/2775		INP4B_HUMAN			Transcript			.	ENSP00000262992		CCDS3757.1			1	
PDC	0	LGGM	GRCh37	1	186413509	186413509	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	42	12	.	.	ENST00000391997.2:c.343T>C	p.Tyr115His	p.Y115H	ENST00000391997	NM_002597.4	115	Tat/Cat	0	1	1	UPI00001319D2	0	getma.org/pdb.php?prot=PHOS_HUMAN&from=1&to=246&var=Y115H	ENST00000391997		ENSG00000116703	8759		54	0.285		HGNC	p.Y115H		PDC		SNV							ENST00000391997	protein_coding	getma.org/?cm=var&var=hg19,1,186413509,A,G&fts=all		Gene3D:3.40.30.10,Pfam_domain:PF02114,Prints_domain:PR00677,hmmpanther:PTHR21148,hmmpanther:PTHR21148:SF17,Superfamily_domains:SSF52833		Y/H		G	neutral	431/1242		getma.org/?cm=msa&ty=f&p=PHOS_HUMAN&rb=1&re=246&var=Y115H	tolerated(0.38)	Q9UP23_HUMAN,Q52LP8_HUMAN			YES	PDC,missense_variant,p.Tyr115His,ENST00000391997,NM_002597.4;PDC,missense_variant,p.Tyr63His,ENST00000497198,NM_022576.3;PDC,missense_variant,p.Tyr115His,ENST00000340129,;PDC,missense_variant,p.Tyr63His,ENST00000456239,;							MODERATE	343/741	Y115H	PHOS_HUMAN			Transcript		benign(0.075)	.	ENSP00000375855		CCDS1370.1			1	
HPX	0	LGGM	GRCh37	11	6461439	6461439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	13	12	.	.	ENST00000265983.3:c.292G>T	p.Asp98Tyr	p.D98Y	ENST00000265983	NM_000613.2	98	Gat/Tat	0	1	1	UPI000012C5AF	0	getma.org/pdb.php?prot=HEMO_HUMAN&from=97&to=141&var=D98Y	ENST00000265983		ENSG00000110169	5171		25	3.235		HGNC	p.D98Y		HPX		SNV							ENST00000265983	protein_coding	getma.org/?cm=var&var=hg19,11,6461439,C,A&fts=all		Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,SMART_domains:SM00120,Pfam_domain:PF00045,Gene3D:2.110.10.10,PROSITE_patterns:PS00024,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF136,PROSITE_profiles:PS51642		D/Y		A	medium	393/1652		getma.org/?cm=msa&ty=f&p=HEMO_HUMAN&rb=97&re=141&var=D98Y	deleterious(0)				YES	HPX,missense_variant,p.Asp98Tyr,ENST00000265983,NM_000613.2;HPX,non_coding_transcript_exon_variant,,ENST00000525057,;HPX,non_coding_transcript_exon_variant,,ENST00000534800,;HPX,intron_variant,,ENST00000533561,;HPX,upstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000527105,;HPX,non_coding_transcript_exon_variant,,ENST00000528348,;HPX,non_coding_transcript_exon_variant,,ENST00000533369,;HPX,non_coding_transcript_exon_variant,,ENST00000533856,;HPX,upstream_gene_variant,,ENST00000527556,;HPX,upstream_gene_variant,,ENST00000529775,;							MODERATE	292/1389	D98Y	HEMO_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265983		CCDS7763.1			1	
BBS2	0	LGGM	GRCh37	16	56530889	56530889	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	38	13	.	.	ENST00000245157.5:c.1900A>G	p.Met634Val	p.M634V	ENST00000245157	NM_031885.3	634	Atg/Gtg	0	1	1	UPI0000167B72	0	NA	ENST00000245157		ENSG00000125124	967		51	2.28		HGNC	p.M634V		BBS2		SNV			1				ENST00000245157	protein_coding	getma.org/?cm=var&var=hg19,16,56530889,T,C&fts=all		Pfam_domain:PF14782,PIRSF_domain:PIRSF013684,hmmpanther:PTHR32465,hmmpanther:PTHR32465:SF0		M/V		C	medium	2321/2963		getma.org/?cm=msa&ty=f&p=BBS2_HUMAN&rb=273&re=719&var=M634V	deleterious(0.01)	Q8ND60_HUMAN,J3QLW0_HUMAN			YES	BBS2,missense_variant,p.Met634Val,ENST00000245157,NM_031885.3;BBS2,missense_variant,p.Met588Val,ENST00000568104,;BBS2,missense_variant,p.Met55Val,ENST00000564459,;BBS2,downstream_gene_variant,,ENST00000561951,;BBS2,downstream_gene_variant,,ENST00000566410,;BBS2,non_coding_transcript_exon_variant,,ENST00000565781,;BBS2,non_coding_transcript_exon_variant,,ENST00000562813,;BBS2,non_coding_transcript_exon_variant,,ENST00000569192,;BBS2,downstream_gene_variant,,ENST00000569342,;BBS2,downstream_gene_variant,,ENST00000562012,;BBS2,downstream_gene_variant,,ENST00000566495,;BBS2,downstream_gene_variant,,ENST00000562059,;BBS2,downstream_gene_variant,,ENST00000561877,;BBS2,downstream_gene_variant,,ENST00000566210,;BBS2,downstream_gene_variant,,ENST00000566452,;							MODERATE	1900/2166	M634V	BBS2_HUMAN			Transcript		benign(0.197)	.	ENSP00000245157		CCDS32451.1			1	
DDX60	0	LGGM	GRCh37	4	169215014	169215014	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050250	H050250N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	32	13	.	.	ENST00000393743.3:c.806C>T	p.Ser269Leu	p.S269L	ENST00000393743	NM_017631.5	269	tCa/tTa	0	1	1	UPI000020B6AB	0	NA	ENST00000393743		ENSG00000137628	25942		45	2.215		HGNC	p.S269L		DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169215014,G,A&fts=all		hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752		S/L		A	medium	1098/6071		getma.org/?cm=msa&ty=f&p=DDX60_HUMAN&rb=12&re=732&var=S269L	deleterious(0)	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,missense_variant,p.Ser269Leu,ENST00000393743,NM_017631.5;							MODERATE	806/5139	S269L	DDX60_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000377344		CCDS34097.1			1	
HNRNPK	0	LGGM	GRCh37	9	86586238	86586238	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	58	13	.	.	ENST00000376263.3:c.1042G>A	p.Ala348Thr	p.A348T	ENST00000376263	NM_031263.2	348	Gca/Aca	0	1		UPI000013453B	0	NA	ENST00000351839		ENSG00000165119	5044		71	1.1		HGNC	p.A348T		HNRNPK		SNV							ENST00000376281	protein_coding	getma.org/?cm=var&var=hg19,9,86586238,C,T&fts=all		hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF102		A/T		T	low	1149/2652		getma.org/?cm=msa&ty=f&p=HNRPK_HUMAN&rb=210&re=388&var=A348T	tolerated(0.26)	B3KU16_HUMAN				HNRNPK,missense_variant,p.Ala348Thr,ENST00000376263,NM_031263.2;HNRNPK,missense_variant,p.Ala348Thr,ENST00000376281,;HNRNPK,missense_variant,p.Ala348Thr,ENST00000376264,NM_031262.2,NM_002140.3;HNRNPK,missense_variant,p.Ala348Thr,ENST00000351839,;HNRNPK,missense_variant,p.Ala348Thr,ENST00000360384,;HNRNPK,missense_variant,p.Ala324Thr,ENST00000457156,;HNRNPK,upstream_gene_variant,,ENST00000481820,;MIR7-1,upstream_gene_variant,,ENST00000384871,;RP11-575L7.8,upstream_gene_variant,,ENST00000448389,;HNRNPK,upstream_gene_variant,,ENST00000493362,;HNRNPK,downstream_gene_variant,,ENST00000472778,;HNRNPK,downstream_gene_variant,,ENST00000376256,;HNRNPK,upstream_gene_variant,,ENST00000492865,;							MODERATE	1042/1392	A348T	HNRPK_HUMAN			Transcript		benign(0.075)	.	ENSP00000317788		CCDS6667.1			1	
PREX2	0	LGGM	GRCh37	8	69012049	69012049	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	21	13	.	.	ENST00000288368.4:c.2686C>A	p.Leu896Ile	p.L896I	ENST00000288368	NM_024870.2	896	Cta/Ata	0	1	1	UPI0000375435	0	NA	ENST00000288368		ENSG00000046889	22950		34	-1.545		HGNC	p.L896I		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,69012049,C,A&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1		L/I		A	neutral	2963/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=746&re=945&var=L896I	tolerated(1)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Leu896Ile,ENST00000288368,NM_024870.2,NM_025170.4;RP11-403D15.2,upstream_gene_variant,,ENST00000526901,;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;							MODERATE	2686/4821	L896I	PREX2_HUMAN			Transcript		benign(0)	.	ENSP00000288368		CCDS6201.1			1	
PBXIP1	0	LGGM	GRCh37	1	154918931	154918931	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050250	H050250N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	27	16	.	.	ENST00000368463.3:c.1219T>C	p.Ser407Pro	p.S407P	ENST00000368463	NM_020524.2	407	Tct/Cct	0	1	1	UPI000006FE01	0	NA	ENST00000368463		ENSG00000163346	21199		43	2.075		HGNC	p.S378P		PBXIP1		SNV							ENST00000368465	protein_coding	getma.org/?cm=var&var=hg19,1,154918931,A,G&fts=all		Coiled-coils_(Ncoils):Coil		S/P		G	medium	1291/3212		getma.org/?cm=msa&ty=f&p=PBIP1_HUMAN&rb=297&re=635&var=S407P	deleterious(0)	F5H2F6_HUMAN			YES	PBXIP1,missense_variant,p.Ser407Pro,ENST00000368463,NM_020524.2;PBXIP1,missense_variant,p.Ser378Pro,ENST00000368465,;PBXIP1,missense_variant,p.Ser234Pro,ENST00000539880,;PBXIP1,missense_variant,p.Ser252Pro,ENST00000542459,;PBXIP1,downstream_gene_variant,,ENST00000368460,;PBXIP1,downstream_gene_variant,,ENST00000498553,;PBXIP1,downstream_gene_variant,,ENST00000493133,;PBXIP1,downstream_gene_variant,,ENST00000490230,;							MODERATE	1219/2196	S407P	PBIP1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000357448		CCDS1074.1			1	
TRIM43	0	LGGM	GRCh37	2	96262119	96262119	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	35	17	.	.	ENST00000272395.2:c.677T>A	p.Leu226Ter	p.L226*	ENST00000272395	NM_138800.1	226	tTg/tAg	0	1	1	UPI000006E7BB	0	NA	ENST00000272395		ENSG00000144015	19015		52	0		HGNC	p.L226X		TRIM43		SNV							ENST00000272395	protein_coding	getma.org/?cm=var&var=hg19,2,96262119,T,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF276		L/*		A	NA	813/1682		NA					YES	TRIM43,stop_gained,p.Leu226Ter,ENST00000272395,NM_138800.1,NM_001164464.1;							HIGH	677/1341	L226*	TRI43_HUMAN			Transcript			.	ENSP00000272395		CCDS2015.1			1	
COG1	0	LGGM	GRCh37	17	71197441	71197441	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	26	18	.	.	ENST00000299886.4:c.1475T>G	p.Val492Gly	p.V492G	ENST00000299886	NM_018714.2	492	gTg/gGg	0	1	1	UPI0000127E34	0	NA	ENST00000299886		ENSG00000166685	6545		44	2.3		HGNC	p.V492G		COG1		SNV			1				ENST00000299886	protein_coding	getma.org/?cm=var&var=hg19,17,71197441,T,G&fts=all		hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0		V/G		G	medium	1555/3079		getma.org/?cm=msa&ty=f&p=COG1_HUMAN&rb=294&re=493&var=V492G	tolerated(0.11)	J3KSY3_HUMAN			YES	COG1,missense_variant,p.Val492Gly,ENST00000438720,;COG1,missense_variant,p.Val492Gly,ENST00000299886,NM_018714.2;COG1,upstream_gene_variant,,ENST00000582672,;COG1,upstream_gene_variant,,ENST00000582512,;RP11-143K11.5,downstream_gene_variant,,ENST00000580671,;COG1,downstream_gene_variant,,ENST00000582587,;COG1,upstream_gene_variant,,ENST00000577238,;COG1,upstream_gene_variant,,ENST00000580271,;COG1,upstream_gene_variant,,ENST00000577844,;							MODERATE	1475/2943	V492G	COG1_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000299886		CCDS11692.1			1	
LILRA1	0	LGGM	GRCh37	19	55107750	55107750	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050250	H050250N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	20	18	.	.	ENST00000251372.3:c.1055T>C	p.Phe352Ser	p.F352S	ENST00000251372	NM_006863.3	352	tTc/tCc	0	1	1	UPI0000034C00	0	getma.org/pdb.php?prot=LIRA1_HUMAN&from=325&to=404&var=F352S	ENST00000251372		ENSG00000104974	6602		38	2.225		HGNC	p.F352S		LILRA1		SNV							ENST00000251372	protein_coding	getma.org/?cm=var&var=hg19,19,55107750,T,C&fts=all		hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00408,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726		F/S		C	medium	1237/1910		getma.org/?cm=msa&ty=f&p=LIRA1_HUMAN&rb=325&re=404&var=F352S	tolerated(0.05)				YES	LILRA1,missense_variant,p.Phe352Ser,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,;							MODERATE	1055/1470	F352S	LIRA1_HUMAN			Transcript		benign(0.268)	.	ENSP00000251372		CCDS12901.1			1	
OR2T4	0	LGGM	GRCh37	1	248525607	248525607	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	18	20	.	.	ENST00000366475.1:c.725C>A	p.Pro242His	p.P242H	ENST00000366475	NM_001004696.1	242	cCt/cAt	0	1	1	UPI000004B9CC	0	NA	ENST00000366475		ENSG00000196944	15016		38	3.65		HGNC	p.P242H	COSM355719	OR2T4		SNV						1	ENST00000366475	protein_coding	getma.org/?cm=var&var=hg19,1,248525607,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237		P/H		A	high	725/1047		getma.org/?cm=msa&ty=f&p=OR2T4_HUMAN&rb=171&re=315&var=P242H	deleterious(0)				YES	OR2T4,missense_variant,p.Pro242His,ENST00000366475,NM_001004696.1;					1		MODERATE	725/1047	P242H	OR2T4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000355431		CCDS31113.1			1	
SMOC2	0	LGGM	GRCh37	6	168947811	168947811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050250	H050250N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050250N.bam, H050250T.bam	Illumina HiSeq	28	31	.	.	ENST00000354536.5:c.557C>A	p.Ala186Asp	p.A186D	ENST00000354536	NM_022138.2	186	gCt/gAt	0	1		UPI00000421E5	0	NA	ENST00000356284		ENSG00000112562	20323		59	0		HGNC	p.A186D		SMOC2		SNV			1				ENST00000354536	protein_coding	getma.org/?cm=var&var=hg19,6,168947811,C,A&fts=all		hmmpanther:PTHR12352:SF11,hmmpanther:PTHR12352		A/D		A	neutral	744/3117		getma.org/?cm=msa&ty=f&p=SMOC2_HUMAN&rb=154&re=215&var=A175D	tolerated(0.17)	B4DNB1_HUMAN				SMOC2,missense_variant,p.Ala186Asp,ENST00000354536,NM_022138.2;SMOC2,missense_variant,p.Ala175Asp,ENST00000356284,NM_001166412.1;							MODERATE	524/1341	A175D	SMOC2_HUMAN			Transcript		benign(0.005)	.	ENSP00000348630		CCDS55076.1			1	
SLC6A2	0	LGGM	GRCh37	16	55705799	55705799	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	5	2	.	.	ENST00000219833.8:c.407-51C>A		*136*	ENST00000219833	NM_001172504.1			0	1		UPI000013548D	0	NA	ENST00000379906		ENSG00000103546	11048		7	0		HGNC	p.A14D		SLC6A2		SNV			1				ENST00000567238	protein_coding	getma.org/?cm=var&var=hg19,16,55705799,C,A&fts=all						A	neutral	-/3551		getma.org/?cm=msa&ty=f&p=B4DX48_HUMAN&rb=1&re=46&var=A14D		Q9UQ04_HUMAN,H3BMY5_HUMAN				SLC6A2,missense_variant,p.Ala14Asp,ENST00000567238,NM_001172502.1;SLC6A2,intron_variant,,ENST00000379906,NM_001043.3;SLC6A2,intron_variant,,ENST00000414754,;SLC6A2,intron_variant,,ENST00000219833,NM_001172504.1;SLC6A2,intron_variant,,ENST00000568943,NM_001172501.1;SLC6A2,intron_variant,,ENST00000561820,;SLC6A2,intron_variant,,ENST00000566163,;SLC6A2,intron_variant,,ENST00000568529,;SLC6A2,intron_variant,,ENST00000568655,;							MODIFIER	-/1854	A14D	SC6A2_HUMAN			Transcript			.	ENSP00000369237		CCDS10754.1			1	
APOBR	0	LGGM	GRCh37	16	28508684	28508684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	8	2	.	.	ENST00000564831.1:c.2322C>A	p.Ser774Arg	p.S774R	ENST00000564831	NM_018690.3	774	agC/agA	0	1		UPI0000140EF4	0	NA	ENST00000431282		ENSG00000184730	24087		10	0.205		HGNC	p.S765R		APOBR		SNV							ENST00000328423	protein_coding	getma.org/?cm=var&var=hg19,16,28508684,C,A&fts=all		hmmpanther:PTHR15964,hmmpanther:PTHR15964:SF0		S/R		A	neutral	2305/3414		getma.org/?cm=msa&ty=f&p=APOBR_HUMAN&rb=1&re=1087&var=S765R	tolerated(1)					APOBR,missense_variant,p.Ser774Arg,ENST00000564831,NM_018690.3;APOBR,missense_variant,p.Ser765Arg,ENST00000431282,;APOBR,missense_variant,p.Ser765Arg,ENST00000328423,;CLN3,upstream_gene_variant,,ENST00000569430,;IL27,downstream_gene_variant,,ENST00000356897,NM_145659.3;IL27,downstream_gene_variant,,ENST00000568075,;CLN3,upstream_gene_variant,,ENST00000567804,;CLN3,upstream_gene_variant,,ENST00000567160,;CLN3,upstream_gene_variant,,ENST00000566816,;CLN3,upstream_gene_variant,,ENST00000566472,;CLN3,upstream_gene_variant,,ENST00000566040,;CLN3,upstream_gene_variant,,ENST00000563874,;							MODERATE	2295/3267	S765R	APOBR_HUMAN			Transcript		benign(0.012)	.	ENSP00000416094					1	
NHSL2	0	LGGM	GRCh37	X	71360605	71360605	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	17	2	.	.	ENST00000540800.1:c.3207G>C	p.Arg1069Ser	p.R1069S	ENST00000540800	NM_001013627.2	1069	agG/agC	0	1		UPI0001D3B33F	0	NA	ENST00000510661		ENSG00000204131	33737		19	1.1		HGNC	p.R703S		NHSL2		SNV							ENST00000373677	protein_coding	getma.org/?cm=var&var=hg19,X,71360605,G,C&fts=all		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2		R/S		C	low	2580/3082		getma.org/?cm=msa&ty=f&p=NHSL2_HUMAN&rb=1&re=707&var=R703S	tolerated_low_confidence(0.06)	D6RBM4_HUMAN				NHSL2,missense_variant,p.Arg703Ser,ENST00000373677,;NHSL2,missense_variant,p.Arg1069Ser,ENST00000540800,NM_001013627.2;NHSL2,missense_variant,p.Arg838Ser,ENST00000510661,;NHSL2,missense_variant,p.Arg703Ser,ENST00000535692,;RP11-262D11.2,upstream_gene_variant,,ENST00000456343,;							MODERATE	2514/2535	R703S				Transcript		benign(0.036)	.	ENSP00000424079					1	
SUOX	0	LGGM	GRCh37	12	56396036	56396036	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	20	2	.	.	ENST00000394109.3:c.31A>C	p.Arg11=	p.R11=	ENST00000394109		11	Agg/Cgg	0	1		UPI00001FC4A1	0		ENST00000266971		ENSG00000139531	11460		22			HGNC	p.R11R		SUOX		SNV			1				ENST00000548274	protein_coding					R		C		259/2364				F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN				SUOX,synonymous_variant,p.=,ENST00000394109,;SUOX,synonymous_variant,p.=,ENST00000394115,NM_000456.2;SUOX,synonymous_variant,p.=,ENST00000266971,NM_001032386.1;SUOX,synonymous_variant,p.=,ENST00000548274,;SUOX,synonymous_variant,p.=,ENST00000356124,NM_001032387.1;SUOX,synonymous_variant,p.=,ENST00000546833,;SUOX,synonymous_variant,p.=,ENST00000551841,;SUOX,synonymous_variant,p.=,ENST00000547586,;SUOX,synonymous_variant,p.=,ENST00000552258,;SUOX,non_coding_transcript_exon_variant,,ENST00000550478,;SUOX,non_coding_transcript_exon_variant,,ENST00000551698,;SUOX,non_coding_transcript_exon_variant,,ENST00000550340,;SUOX,intron_variant,,ENST00000552363,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,synonymous_variant,p.=,ENST00000550065,;SUOX,non_coding_transcript_exon_variant,,ENST00000546712,;SUOX,non_coding_transcript_exon_variant,,ENST00000552813,;							LOW	31/1638		SUOX_HUMAN			Transcript			.	ENSP00000266971		CCDS8901.2			1	
PLIN4	0	LGGM	GRCh37	19	4517673	4517673	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	3	2	.	.	ENST00000301286.3:c.44G>T	p.Ser15Ile	p.S15I	ENST00000301286	NM_001080400.1	15	aGc/aTc	0	1	1	UPI00001D822A	0	NA	ENST00000301286		ENSG00000167676	29393		5	0.895		HGNC	p.S15I		PLIN4		SNV							ENST00000301286	protein_coding	getma.org/?cm=var&var=hg19,19,4517673,C,A&fts=all		hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF24,Low_complexity_(Seg):seg		S/I		A	low	44/6341		getma.org/?cm=msa&ty=f&p=PLIN4_HUMAN&rb=1&re=65&var=S15I	deleterious(0)	B4DHR7_HUMAN			YES	PLIN4,missense_variant,p.Ser15Ile,ENST00000301286,NM_001080400.1;PLIN5,downstream_gene_variant,,ENST00000381848,NM_001013706.2;							MODERATE	44/4074	S15I	PLIN4_HUMAN			Transcript		benign(0.067)	.	ENSP00000301286		CCDS45927.1			1	
SH2B3	0	LGGM	GRCh37	12	111884634	111884634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	10	2	.	.	ENST00000341259.2:c.810C>A	p.Asp270Glu	p.D270E	ENST00000341259	NM_005475.2	270	gaC/gaA	0	1	1	UPI000012E798	0	getma.org/pdb.php?prot=SH2B3_HUMAN&from=195&to=307&var=D270E	ENST00000341259		ENSG00000111252	29605		12	1.995		HGNC	p.D80E		SH2B3		SNV			1				ENST00000551001	protein_coding	getma.org/?cm=var&var=hg19,12,111884634,C,A&fts=all		hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF1,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		D/E		A	medium	1167/5406		getma.org/?cm=msa&ty=f&p=SH2B3_HUMAN&rb=195&re=307&var=D270E	deleterious(0)				YES	SH2B3,missense_variant,p.Asp270Glu,ENST00000341259,NM_005475.2;SH2B3,missense_variant,p.Asp68Glu,ENST00000538307,;SH2B3,downstream_gene_variant,,ENST00000550925,;							MODERATE	810/1728	D270E	SH2B3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345492		CCDS9153.1			1	
MYBPH	0	LGGM	GRCh37	1	203143706	203143706	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	5	2	.	.	ENST00000255416.4:c.360G>T	p.Val120=	p.V120=	ENST00000255416	NM_004997.2	120	gtG/gtT	0	1	1	UPI000000DA7B	0		ENST00000255416		ENSG00000133055	7552		7			HGNC	p.V120V		MYBPH		SNV							ENST00000255416	protein_coding			Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF55,hmmpanther:PTHR19900,PROSITE_profiles:PS50853		V		A		418/1805							YES	MYBPH,synonymous_variant,p.=,ENST00000255416,NM_004997.2;CHI3L1,downstream_gene_variant,,ENST00000255409,NM_001276.2;CHI3L1,downstream_gene_variant,,ENST00000404436,;CHI3L1,downstream_gene_variant,,ENST00000473185,;CHI3L1,downstream_gene_variant,,ENST00000478742,;							LOW	360/1434		MYBPH_HUMAN			Transcript			.	ENSP00000255416		CCDS30975.1			1	
MVK	0	LGGM	GRCh37	12	110023923	110023923	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	18	2	.	.	ENST00000228510.3:c.624C>G	p.Ser208Arg	p.S208R	ENST00000228510	NM_001114185.1	208	agC/agG	0	1	1	UPI000012DE5B	0	getma.org/pdb.php?prot=KIME_HUMAN&from=130&to=212&var=S208R	ENST00000228510		ENSG00000110921	7530		20	3.52		HGNC	p.S14R		MVK		SNV			1				ENST00000541384	protein_coding	getma.org/?cm=var&var=hg19,12,110023923,C,G&fts=all		Gene3D:3.30.230.10,Pfam_domain:PF00288,Prints_domain:PR00959,hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR00549		S/R		G	high	700/1952		getma.org/?cm=msa&ty=f&p=KIME_HUMAN&rb=130&re=212&var=S208R	deleterious(0.01)	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN			YES	MVK,missense_variant,p.Ser208Arg,ENST00000228510,NM_001114185.1,NM_000431.2;MVK,missense_variant,p.Ser156Arg,ENST00000392727,;MVK,missense_variant,p.Ser156Arg,ENST00000539575,;MVK,missense_variant,p.Ser14Arg,ENST00000541384,;MVK,intron_variant,,ENST00000539696,;MVK,downstream_gene_variant,,ENST00000546277,;MVK,downstream_gene_variant,,ENST00000539335,;MVK,downstream_gene_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,;							MODERATE	624/1191	S208R	KIME_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000228510		CCDS9132.1			1	
NUDC	0	LGGM	GRCh37	1	27267947	27267947	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	22	3	.	.	ENST00000321265.5:c.160-1G>T		p.X54_splice	ENST00000321265	NM_006600.3			0	1	1	UPI000006D29B	0		ENST00000321265		ENSG00000090273	8045		25			HGNC	-		NUDC		SNV							ENST00000435827	protein_coding							T		-/1800							YES	NUDC,splice_acceptor_variant,,ENST00000321265,NM_006600.3;NUDC,splice_acceptor_variant,,ENST00000435827,;NUDC,splice_acceptor_variant,,ENST00000452707,;NUDC,upstream_gene_variant,,ENST00000484772,;							HIGH	160/996		NUDC_HUMAN			Transcript			.	ENSP00000319664		CCDS292.1			1	
HSD11B2	0	LGGM	GRCh37	16	67469966	67469966	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	25	3	.	.	ENST00000326152.5:c.585C>T	p.Gly195=	p.G195=	ENST00000326152	NM_000196.3	195	ggC/ggT	0	1	1	UPI000014185A	0		ENST00000326152		ENSG00000176387	5209	8.65E-05	28			HGNC	p.G195G	rs542287681	HSD11B2		SNV			1				ENST00000326152	protein_coding		T:0	Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF265,Superfamily_domains:SSF51735		G		T		717/1900					T:0.0014	T:0	YES	HSD11B2,synonymous_variant,p.=,ENST00000326152,NM_000196.3;ATP6V0D1,downstream_gene_variant,,ENST00000290949,NM_004691.4;ATP6V0D1,downstream_gene_variant,,ENST00000540149,;ATP6V0D1,downstream_gene_variant,,ENST00000602876,;ATP6V0D1,downstream_gene_variant,,ENST00000565835,;ATP6V0D1,downstream_gene_variant,,ENST00000564615,;RP11-297D21.2,upstream_gene_variant,,ENST00000567261,;HSD11B2,non_coding_transcript_exon_variant,,ENST00000567684,;ATP6V0D1,downstream_gene_variant,,ENST00000567694,;HSD11B2,3_prime_UTR_variant,,ENST00000566606,;ATP6V0D1,downstream_gene_variant,,ENST00000568620,;ATP6V0D1,downstream_gene_variant,,ENST00000563305,;ATP6V0D1,downstream_gene_variant,,ENST00000426604,;ATP6V0D1,downstream_gene_variant,,ENST00000563064,;ATP6V0D1,downstream_gene_variant,,ENST00000564191,;ATP6V0D1,downstream_gene_variant,,ENST00000566322,;ATP6V0D1,downstream_gene_variant,,ENST00000561852,;ATP6V0D1,downstream_gene_variant,,ENST00000567170,;ATP6V0D1,downstream_gene_variant,,ENST00000564788,;HSD11B2,downstream_gene_variant,,ENST00000569303,;AC009061.1,downstream_gene_variant,,ENST00000366223,;		T:0.0002					LOW	585/1218		DHI2_HUMAN		T:0	Transcript			.	ENSP00000316786	8.24E-06	CCDS10837.1		T:0	1	
FAM205B	0	LGGM	GRCh37	9	34834406	34834406	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	42	3	.	.	ENST00000399773.6:n.1895C>A		*632*	ENST00000399773				0	1	1		0		ENST00000399773		ENSG00000257198	24504		45			HGNC	p.S361R		FAM205B		SNV							ENST00000455647	transcribed_unprocessed_pseudogene							T		1895/4009							YES	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;							MODIFIER						Transcript			.						1	
INF2	0	LGGM	GRCh37	14	105178834	105178834	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	20	3	.	.	ENST00000392634.4:c.2554C>A	p.Arg852=	p.R852=	ENST00000392634	NM_022489.3	852	Cgg/Agg	0	1	1	UPI000156D0FB	0		ENST00000392634		ENSG00000203485	23791		23			HGNC	p.R852R		INF2		SNV			1				ENST00000330634	protein_coding			PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		R		A		2666/4672							YES	INF2,synonymous_variant,p.=,ENST00000392634,NM_022489.3;INF2,synonymous_variant,p.=,ENST00000330634,NM_001031714.3;INF2,synonymous_variant,p.=,ENST00000252527,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,non_coding_transcript_exon_variant,,ENST00000480763,;INF2,downstream_gene_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000477497,;							LOW	2554/3750		INF2_HUMAN			Transcript			.	ENSP00000376410		CCDS9989.2			1	
GMPPB	0	LGGM	GRCh37	3	49760469	49760469	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	22	3	.	.	ENST00000308375.6:c.338G>T	p.Cys113Phe	p.C113F	ENST00000308375		113	tGc/tTc	0	1		UPI000013ED31	0	getma.org/pdb.php?prot=GMPPB_HUMAN&from=2&to=234&var=C113F	ENST00000308388		ENSG00000173540	22932		25	1.715		HGNC	p.C113F		GMPPB		SNV			1				ENST00000308375	protein_coding	getma.org/?cm=var&var=hg19,3,49760469,C,A&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF00483,hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF75,Superfamily_domains:SSF53448		C/F		A	low	561/1582		getma.org/?cm=msa&ty=f&p=GMPPB_HUMAN&rb=2&re=234&var=C113F	deleterious(0.02)					GMPPB,missense_variant,p.Cys113Phe,ENST00000480687,;GMPPB,missense_variant,p.Cys113Phe,ENST00000308375,;GMPPB,missense_variant,p.Cys113Phe,ENST00000308388,NM_013334.3,NM_021971.2;AMIGO3,5_prime_UTR_variant,,ENST00000535833,;IP6K1,downstream_gene_variant,,ENST00000321599,NM_153273.3,NM_001242829.1;RNF123,downstream_gene_variant,,ENST00000327697,NM_022064.3;IP6K1,downstream_gene_variant,,ENST00000395238,NM_001006115.2;AMIGO3,upstream_gene_variant,,ENST00000320431,NM_198722.2;IP6K1,downstream_gene_variant,,ENST00000468463,;RNF123,downstream_gene_variant,,ENST00000433785,;IP6K1,downstream_gene_variant,,ENST00000460540,;RNF123,downstream_gene_variant,,ENST00000497099,;GMPPB,non_coding_transcript_exon_variant,,ENST00000481959,;GMPPB,non_coding_transcript_exon_variant,,ENST00000495627,;RNF123,downstream_gene_variant,,ENST00000487805,;RNF123,downstream_gene_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000457726,;RNF123,downstream_gene_variant,,ENST00000498376,;IP6K1,downstream_gene_variant,,ENST00000495798,;							MODERATE	338/1083	C113F	GMPPB_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000311130		CCDS2803.1			1	
NUTM2G	0	LGGM	GRCh37	9	99694431	99694431	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	46	3	.	.	ENST00000372322.3:c.444G>T	p.Glu148Asp	p.E148D	ENST00000372322	NM_001170741.1	148	gaG/gaT	0	1	1	UPI000175026B	0	NA	ENST00000372322		ENSG00000188152	23449		49	1.87		HGNC	p.E148D		NUTM2G		SNV							ENST00000372322	protein_coding	getma.org/?cm=var&var=hg19,9,99694431,G,T&fts=all		hmmpanther:PTHR22879:SF12,hmmpanther:PTHR22879,Pfam_domain:PF12881		E/D		T	low	465/2516		getma.org/?cm=msa&ty=f&p=FA22G_HUMAN&rb=8&re=329&var=E148D	tolerated(0.39)				YES	NUTM2G,missense_variant,p.Glu148Asp,ENST00000354649,NM_001045477.2;NUTM2G,missense_variant,p.Glu148Asp,ENST00000372322,NM_001170741.1;HIATL2,intron_variant,,ENST00000506067,;							MODERATE	444/2226	E148D	NTM2G_HUMAN			Transcript		benign(0.312)	.	ENSP00000361397		CCDS55329.1			1	
LPO	0	LGGM	GRCh37	17	56343623	56343623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	46	3	.	.	ENST00000262290.4:c.1629C>A	p.His543Gln	p.H543Q	ENST00000262290	NM_006151.2	543	caC/caA	0	1	1	UPI0000131631	0	getma.org/pdb.php?prot=PERL_HUMAN&from=138&to=684&var=H543Q	ENST00000262290		ENSG00000167419	6678		49	1.645		HGNC	p.H460Q		LPO		SNV							ENST00000582328	protein_coding	getma.org/?cm=var&var=hg19,17,56343623,C,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF53,hmmpanther:PTHR11475,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113		H/Q		A	low	1945/2979		getma.org/?cm=msa&ty=f&p=PERL_HUMAN&rb=138&re=684&var=H543Q	tolerated(0.43)	J3QSD8_HUMAN,F5H386_HUMAN			YES	LPO,missense_variant,p.His543Gln,ENST00000262290,NM_006151.2;LPO,missense_variant,p.His460Gln,ENST00000421678,NM_001160102.1;LPO,missense_variant,p.His460Gln,ENST00000582328,;LPO,missense_variant,p.His484Gln,ENST00000543544,;MPO,downstream_gene_variant,,ENST00000340482,;MPO,downstream_gene_variant,,ENST00000225275,NM_000250.1;MPO,downstream_gene_variant,,ENST00000577220,;LPO,3_prime_UTR_variant,,ENST00000580890,;LPO,3_prime_UTR_variant,,ENST00000389576,;							MODERATE	1629/2139	H543Q	PERL_HUMAN			Transcript		benign(0.188)	.	ENSP00000262290		CCDS32689.1			1	
SCAF1	0	LGGM	GRCh37	19	50148367	50148367	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	17	3	.	.	ENST00000360565.3:c.84G>A	p.Thr28=	p.T28=	ENST00000360565	NM_021228.2	28	acG/acA	0	1	1	UPI0000071891	0		ENST00000360565		ENSG00000126461	30403		20			HGNC	p.T28T	rs752202548,COSM1395296	SCAF1	6.11E-05	SNV						0,1	ENST00000595242	protein_coding			hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2		T		A		208/4306				M0R3G4_HUMAN,M0R2L3_HUMAN			YES	SCAF1,synonymous_variant,p.=,ENST00000360565,NM_021228.2;SCAF1,synonymous_variant,p.=,ENST00000598359,;SCAF1,synonymous_variant,p.=,ENST00000601038,;SCAF1,synonymous_variant,p.=,ENST00000595242,;RRAS,upstream_gene_variant,,ENST00000246792,NM_006270.3;RRAS,upstream_gene_variant,,ENST00000601532,;					0,1		LOW	84/3939		SFR19_HUMAN			Transcript			.	ENSP00000353769	8.24E-06	CCDS33074.1			1	
OR2Y1	0	LGGM	GRCh37	5	180166626	180166626	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	27	3	.	.	ENST00000307832.2:c.433G>T	p.Ala145Ser	p.A145S	ENST00000307832	NM_001001657.1	145	Gct/Tct	0	1	1	UPI0000041BCE	0	NA	ENST00000307832		ENSG00000174339	14837		30	2.45		HGNC	p.A145S		OR2Y1		SNV							ENST00000307832	protein_coding	getma.org/?cm=var&var=hg19,5,180166626,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		A/S		A	medium	474/1058		getma.org/?cm=msa&ty=f&p=OR2Y1_HUMAN&rb=139&re=282&var=A145S	deleterious(0.01)				YES	OR2Y1,missense_variant,p.Ala145Ser,ENST00000307832,NM_001001657.1;							MODERATE	433/936	A145S	OR2Y1_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000312403		CCDS34323.1			1	
SAFB2	0	LGGM	GRCh37	19	5610018	5610018	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	10	3	.	.	ENST00000252542.4:c.1284C>A	p.Ser428Arg	p.S428R	ENST00000252542	NM_014649.2	428	agC/agA	0	1	1	UPI0000071DB7	0	getma.org/pdb.php?prot=SAFB2_HUMAN&from=409&to=479&var=S428R	ENST00000252542		ENSG00000130254	21605		13	2.265		HGNC	p.S428R		SAFB2		SNV							ENST00000252542	protein_coding	getma.org/?cm=var&var=hg19,19,5610018,G,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF4,SMART_domains:SM00360,Superfamily_domains:SSF54928		S/R		T	medium	1549/3371		getma.org/?cm=msa&ty=f&p=SAFB2_HUMAN&rb=409&re=479&var=S428R	deleterious(0)				YES	SAFB2,missense_variant,p.Ser428Arg,ENST00000252542,NM_014649.2;SAFB2,downstream_gene_variant,,ENST00000590262,;SAFB2,non_coding_transcript_exon_variant,,ENST00000591310,;SAFB2,3_prime_UTR_variant,,ENST00000591123,;SAFB2,non_coding_transcript_exon_variant,,ENST00000592599,;SAFB2,non_coding_transcript_exon_variant,,ENST00000591101,;SAFB2,downstream_gene_variant,,ENST00000591120,;							MODERATE	1284/2862	S428R	SAFB2_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000252542		CCDS32879.1			1	
MIPOL1	0	LGGM	GRCh37	14	37736284	37736284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	44	3	.	.	ENST00000327441.7:c.161C>A	p.Thr54Lys	p.T54K	ENST00000327441	NM_138731.6	54	aCa/aAa	0	1	1	UPI00000701B8	0	NA	ENST00000327441		ENSG00000151338	21460		47	1.78		HGNC	p.T54K		MIPOL1		SNV							ENST00000537471	protein_coding	getma.org/?cm=var&var=hg19,14,37736284,C,A&fts=all		hmmpanther:PTHR22089		T/K		A	low	627/7185		getma.org/?cm=msa&ty=f&p=MIPO1_HUMAN&rb=1&re=441&var=T54K	tolerated_low_confidence(0.14)	G5EA54_HUMAN,G3V3K8_HUMAN,G3V2C4_HUMAN			YES	MIPOL1,missense_variant,p.Thr54Lys,ENST00000327441,NM_138731.6,NM_001195297.1,NM_001195296.1;MIPOL1,missense_variant,p.Thr23Lys,ENST00000539062,;MIPOL1,missense_variant,p.Thr23Lys,ENST00000556451,;MIPOL1,missense_variant,p.Thr54Lys,ENST00000537471,;MIPOL1,missense_variant,p.Thr23Lys,ENST00000545536,;MIPOL1,missense_variant,p.Thr54Lys,ENST00000396294,;MIPOL1,missense_variant,p.Thr54Lys,ENST00000556753,;MIPOL1,missense_variant,p.Thr54Lys,ENST00000556615,;MIPOL1,intron_variant,,ENST00000536774,;MIPOL1,non_coding_transcript_exon_variant,,ENST00000539174,;MIPOL1,non_coding_transcript_exon_variant,,ENST00000554930,;MIPOL1,non_coding_transcript_exon_variant,,ENST00000554114,;MIPOL1,missense_variant,p.Thr23Lys,ENST00000555870,;							MODERATE	161/1329	T54K	MIPO1_HUMAN			Transcript		benign(0.376)	.	ENSP00000333539		CCDS9664.1			1	
EFCAB4B	0	LGGM	GRCh37	12	3763428	3763428	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	37	3	.	.	ENST00000440314.2:c.996G>T	p.Gln332His	p.Q332H	ENST00000440314	NM_001144958.1	332	caG/caT	0	1		UPI000006F61E	0	NA	ENST00000252322		ENSG00000130038	28657		40	2.08		HGNC	p.Q332H		EFCAB4B		SNV							ENST00000440314	protein_coding	getma.org/?cm=var&var=hg19,12,3763428,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2,Low_complexity_(Seg):seg		Q/H		A	medium	1465/2186		getma.org/?cm=msa&ty=f&p=EFC4B_HUMAN&rb=283&re=395&var=Q332H	tolerated(0.12)					EFCAB4B,missense_variant,p.Gln332His,ENST00000440314,NM_001144958.1;EFCAB4B,missense_variant,p.Gln332His,ENST00000444507,;EFCAB4B,missense_variant,p.Gln332His,ENST00000252322,NM_032680.3;EFCAB4B,upstream_gene_variant,,ENST00000535292,;EFCAB4B,missense_variant,p.Gln135His,ENST00000333750,;							MODERATE	996/1188	Q332H	EFC4B_HUMAN			Transcript		possibly_damaging(0.704)	.	ENSP00000252322		CCDS8522.1			1	
TRIO	0	LGGM	GRCh37	5	14502733	14502733	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	31	3	.	.	ENST00000344204.4:c.8378A>G	p.Asp2793Gly	p.D2793G	ENST00000344204	NM_007118.2	2793	gAc/gGc	0	1	1	UPI000034ECE6	0	NA	ENST00000344204		ENSG00000038382	12303		34	0.835		HGNC	p.D2617G		TRIO		SNV			1				ENST00000537187	protein_coding	getma.org/?cm=var&var=hg19,5,14502733,A,G&fts=all		Gene3D:3.30.200.20,Superfamily_domains:SSF56112		D/G		G	low	8402/11100		getma.org/?cm=msa&ty=f&p=TRIO_HUMAN&rb=2747&re=2825&var=D2793G					YES	TRIO,missense_variant,p.Asp2793Gly,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Asp2617Gly,ENST00000537187,;TRIO,missense_variant,p.Asp2526Gly,ENST00000513206,;TRIO,missense_variant,p.Asp292Gly,ENST00000344135,;TRIO,3_prime_UTR_variant,,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000508717,;TRIO,non_coding_transcript_exon_variant,,ENST00000508283,;TRIO,downstream_gene_variant,,ENST00000508343,;							MODERATE	8378/9294	D2793G	TRIO_HUMAN			Transcript		unknown(0)	.	ENSP00000339299		CCDS3883.1			1	
CDRT15L2	0	LGGM	GRCh37	17	20483512	20483512	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	21	3	.	.	ENST00000399044.1:c.316C>T	p.Pro106Ser	p.P106S	ENST00000399044	NM_001190790.1	106	Cca/Tca	0	1	1	UPI00001D7A81	0	NA	ENST00000399044		ENSG00000214819	34075		24	1.24		HGNC	p.P106S		CDRT15L2		SNV							ENST00000399044	protein_coding	getma.org/?cm=var&var=hg19,17,20483512,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF0		P/S		T	low	336/1048		getma.org/?cm=msa&ty=f&p=CD15L_HUMAN&rb=1&re=280&var=P106S	deleterious_low_confidence(0.02)				YES	CDRT15L2,missense_variant,p.Pro106Ser,ENST00000399044,NM_001190790.1;RP11-434D2.12,upstream_gene_variant,,ENST00000580931,;ZSWIM5P2,downstream_gene_variant,,ENST00000420212,;							MODERATE	316/846	P106S	CD15L_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000382000		CCDS54096.1			1	
MYO19	0	LGGM	GRCh37	17	34871009	34871009	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	45	3	.	.	ENST00000431794.3:c.564G>T	p.Leu188=	p.L188=	ENST00000431794	NM_001163735.1	188	ctG/ctT	0	1	1	UPI000173AA19	0		ENST00000431794		ENSG00000141140	26234		48			HGNC	p.L54L		MYO19		SNV							ENST00000544606	protein_coding			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193		L		A		1087/4054				K7EQ57_HUMAN,K7EP95_HUMAN,K7EMZ0_HUMAN,K7EJW5_HUMAN			YES	MYO19,synonymous_variant,p.=,ENST00000431794,NM_001163735.1;MYO19,synonymous_variant,p.=,ENST00000268852,NM_025109.5;MYO19,synonymous_variant,p.=,ENST00000586007,NM_001033580.2;MYO19,synonymous_variant,p.=,ENST00000544606,;MYO19,downstream_gene_variant,,ENST00000585719,;MYO19,downstream_gene_variant,,ENST00000589404,;MYO19,synonymous_variant,p.=,ENST00000586908,;MYO19,intron_variant,,ENST00000591794,;MYO19,upstream_gene_variant,,ENST00000587389,;MYO19,upstream_gene_variant,,ENST00000591017,;MYO19,upstream_gene_variant,,ENST00000588471,;MYO19,upstream_gene_variant,,ENST00000590585,;							LOW	564/2913		MYO19_HUMAN			Transcript			.	ENSP00000409936		CCDS54112.1			1	
UBR4	0	LGGM	GRCh37	1	19419895	19419895	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	40	3	.	.	ENST00000375254.3:c.14023G>T	p.Gly4675Trp	p.G4675W	ENST00000375254	NM_020765.2	4675	Ggg/Tgg	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		43	3.02		HGNC	p.G4675W		UBR4		SNV							ENST00000375254	protein_coding	getma.org/?cm=var&var=hg19,1,19419895,C,A&fts=all		Pfam_domain:PF13764,hmmpanther:PTHR21725		G/W		A	medium	14051/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=4367&re=5163&var=G4675W		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Gly4675Trp,ENST00000375267,;UBR4,missense_variant,p.Gly4675Trp,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Gly4668Trp,ENST00000375217,;UBR4,missense_variant,p.Gly4651Trp,ENST00000375226,;UBR4,missense_variant,p.Gly382Trp,ENST00000375224,;UBR4,missense_variant,p.Gly339Trp,ENST00000543981,;UBR4,missense_variant,p.Gly198Trp,ENST00000429347,;UBR4,non_coding_transcript_exon_variant,,ENST00000467272,;UBR4,non_coding_transcript_exon_variant,,ENST00000492606,;UBR4,downstream_gene_variant,,ENST00000483922,;							MODERATE	14023/15552	G4675W	UBR4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364403		CCDS189.1			1	
HCAR3	0	LGGM	GRCh37	12	123200308	123200308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	44	3	.	.	ENST00000528880.2:c.977G>T	p.Ser326Ile	p.S326I	ENST00000528880	NM_006018.2	326	aGc/aTc	0	1	1	UPI00001AFD35	0	getma.org/pdb.php?prot=HCAR3_HUMAN&from=201&to=387&var=S326I	ENST00000528880		ENSG00000255398	16824		47	1.5		HGNC	p.S326I		HCAR3		SNV							ENST00000528880	protein_coding	getma.org/?cm=var&var=hg19,12,123200308,C,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Superfamily_domains:SSF81321		S/I		A	low	1132/2137		getma.org/?cm=msa&ty=f&p=HCAR3_HUMAN&rb=201&re=387&var=S326I	deleterious(0.04)				YES	HCAR3,missense_variant,p.Ser326Ile,ENST00000528880,NM_006018.2;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000543611,;RP11-324E6.6,downstream_gene_variant,,ENST00000545293,;							MODERATE	977/1164	S326I	HCAR3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000436714		CCDS53842.1			1	
ELFN2	0	LGGM	GRCh37	22	37769711	37769711	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	8	3	.	.	ENST00000402918.2:c.1864G>A	p.Ala622Thr	p.A622T	ENST00000402918	NM_052906.3	622	Gcg/Acg	0	1	1	UPI000004E87D	0	NA	ENST00000402918		ENSG00000166897	29396		11	1.355		HGNC	p.A622T		ELFN2		SNV							ENST00000402918	protein_coding	getma.org/?cm=var&var=hg19,22,37769711,C,T&fts=all		hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367		A/T		T	low	2650/8361		getma.org/?cm=msa&ty=f&p=PPR29_HUMAN&rb=601&re=800&var=A622T	tolerated(0.26)				YES	ELFN2,missense_variant,p.Ala622Thr,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,;							MODERATE	1864/2463	A622T	PPR29_HUMAN			Transcript		benign(0.184)	.	ENSP00000385277		CCDS33642.1			1	
GPRC5B	0	LGGM	GRCh37	16	19883172	19883172	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	31	4	.	.	ENST00000300571.2:c.996G>A	p.Glu332=	p.E332=	ENST00000300571	NM_016235.1	332	gaG/gaA	0	1	1	UPI0000032747	0		ENST00000300571		ENSG00000167191	13308		35			HGNC	p.E332E		GPRC5B		SNV							ENST00000535671	protein_coding			hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF9		E		T		1188/4610				H3BT93_HUMAN,H3BT47_HUMAN,H3BSJ1_HUMAN,H3BQV9_HUMAN,H3BN33_HUMAN			YES	GPRC5B,synonymous_variant,p.=,ENST00000300571,NM_016235.1;GPRC5B,synonymous_variant,p.=,ENST00000569479,;GPRC5B,synonymous_variant,p.=,ENST00000569847,;GPRC5B,synonymous_variant,p.=,ENST00000537135,;GPRC5B,synonymous_variant,p.=,ENST00000535671,;GPRC5B,downstream_gene_variant,,ENST00000562469,;GPRC5B,downstream_gene_variant,,ENST00000566822,;GPRC5B,downstream_gene_variant,,ENST00000564449,;GPRC5B,downstream_gene_variant,,ENST00000568214,;GPRC5B,downstream_gene_variant,,ENST00000570142,;							LOW	996/1212		GPC5B_HUMAN			Transcript			.	ENSP00000300571		CCDS10581.1			1	
MAP3K15	0	LGGM	GRCh37	X	19389561	19389561	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	35	4	.	.	ENST00000338883.4:c.3196G>A	p.Val1066Met	p.V1066M	ENST00000338883	NM_001001671.3	1066	Gtg/Atg	0	1	1	UPI0000E444D0	0	NA	ENST00000338883		ENSG00000180815	31689		39	2.505		HGNC	p.V898M		MAP3K15		SNV							ENST00000469203	protein_coding	getma.org/?cm=var&var=hg19,X,19389561,C,T&fts=all		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363		V/M		T	medium	3196/4635		getma.org/?cm=msa&ty=f&p=M3K15_HUMAN&rb=944&re=1311&var=V1066M	tolerated(0.17)	E7EWI5_HUMAN			YES	MAP3K15,missense_variant,p.Val1066Met,ENST00000338883,NM_001001671.3;MAP3K15,missense_variant,p.Val501Met,ENST00000359173,;MAP3K15,missense_variant,p.Val898Met,ENST00000469203,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000470101,;							MODERATE	3196/3942	V1066M	M3K15_HUMAN			Transcript		benign(0.285)	.	ENSP00000345629					1	
EPHX1	0	LGGM	GRCh37	1	226019629	226019629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	59	4	.	.	ENST00000366837.4:c.333C>A	p.Asn111Lys	p.N111K	ENST00000366837	NM_000120.3	111	aaC/aaA	0	1		UPI000012CFF2	0	getma.org/pdb.php?prot=HYEP_HUMAN&from=49&to=161&var=N111K	ENST00000272167		ENSG00000143819	3401		63	3.315		HGNC	p.N111K		EPHX1		SNV			1				ENST00000272167	protein_coding	getma.org/?cm=var&var=hg19,1,226019629,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF06441,PIRSF_domain:PIRSF001112,hmmpanther:PTHR21661,hmmpanther:PTHR21661:SF10,Superfamily_domains:SSF53474		N/K		A	medium	413/1660		getma.org/?cm=msa&ty=f&p=HYEP_HUMAN&rb=49&re=161&var=N111K	deleterious(0)	R4SBI6_HUMAN,B1AQP9_HUMAN,B1AQP8_HUMAN				EPHX1,missense_variant,p.Asn111Lys,ENST00000366837,NM_000120.3;EPHX1,missense_variant,p.Asn111Lys,ENST00000272167,NM_001136018.2;EPHX1,missense_variant,p.Asn111Lys,ENST00000448202,;EPHX1,missense_variant,p.Asn111Lys,ENST00000445856,;EPHX1,non_coding_transcript_exon_variant,,ENST00000467015,;							MODERATE	333/1368	N111K	HYEP_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000272167		CCDS1547.1			1	
ATP10B	0	LGGM	GRCh37	5	159992903	159992903	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	56	4	.	.	ENST00000327245.5:c.3943T>A	p.Phe1315Ile	p.F1315I	ENST00000327245	NM_025153.2	1315	Ttt/Att	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		60	0.715		HGNC	p.F1315I		ATP10B		SNV							ENST00000327245	protein_coding	getma.org/?cm=var&var=hg19,5,159992903,A,T&fts=all		Superfamily_domains:0049473,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092,Transmembrane_helices:TMhelix		F/I		T	neutral	4790/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=1265&re=1461&var=F1315I	tolerated(0.2)				YES	ATP10B,missense_variant,p.Phe1315Ile,ENST00000327245,NM_025153.2;							MODERATE	3943/4386	F1315I	AT10B_HUMAN			Transcript		benign(0.013)	.	ENSP00000313600		CCDS43394.1			1	
ADPRM	0	LGGM	GRCh37	17	10608534	10608534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	45	4	.	.	ENST00000379774.4:c.291C>A	p.Phe97Leu	p.F97L	ENST00000379774	NM_020233.4	97	ttC/ttA	0	1	1	UPI000040A94B	0	getma.org/pdb.php?prot=ADPRM_HUMAN&from=18&to=282&var=F97L	ENST00000379774		ENSG00000170222	30925		49	0.69		HGNC	p.F97L		ADPRM		SNV							ENST00000379774	protein_coding	getma.org/?cm=var&var=hg19,17,10608534,C,A&fts=all		Superfamily_domains:SSF56300,Pfam_domain:PF00149,Gene3D:3.60.21.10,hmmpanther:PTHR16509:SF1,hmmpanther:PTHR16509		F/L		A	neutral	382/1209		getma.org/?cm=msa&ty=f&p=ADPRM_HUMAN&rb=18&re=282&var=F97L	tolerated(0.35)				YES	ADPRM,missense_variant,p.Phe97Leu,ENST00000379774,NM_020233.4;ADPRM,missense_variant,p.Phe97Leu,ENST00000609540,;TMEM220,intron_variant,,ENST00000580787,;ADPRM,missense_variant,p.Phe97Leu,ENST00000468843,;ADPRM,non_coding_transcript_exon_variant,,ENST00000527582,;							MODERATE	291/1029	F97L	ADPRM_HUMAN			Transcript		benign(0.173)	.	ENSP00000369099		CCDS11159.2			1	
MYH9	0	LGGM	GRCh37	22	36693009	36693009	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	37	4	.	.	ENST00000216181.5:c.3152G>A	p.Arg1051Gln	p.R1051Q	ENST00000216181	NM_002473.4	1051	cGg/cAg	0	1	1	UPI000012FB80	0	NA	ENST00000216181		ENSG00000100345	7579		41	3.555		HGNC	p.R1051Q	rs749390875	MYH9		SNV			1				ENST00000216181	protein_coding	getma.org/?cm=var&var=hg19,22,36693009,C,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Superfamily_domains:SSF90257		R/Q		T	high	3383/7501	1.51E-05	getma.org/?cm=msa&ty=f&p=MYH9_HUMAN&rb=1001&re=1065&var=R1051Q		Q9UMJ0_HUMAN,B1AH99_HUMAN			YES	MYH9,missense_variant,p.Arg1051Gln,ENST00000216181,NM_002473.4;MYH9,downstream_gene_variant,,ENST00000495928,;MYH9,non_coding_transcript_exon_variant,,ENST00000459960,;							MODERATE	3152/5883	R1051Q	MYH9_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000216181	8.24E-06	CCDS13927.1			1	
SCN11A	0	LGGM	GRCh37	3	38938702	38938702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	78	4	.	.	ENST00000302328.3:c.2037G>T	p.Lys679Asn	p.K679N	ENST00000302328	NM_014139.2	679	aaG/aaT	0	1	1	UPI000006CCD7	0	getma.org/pdb.php?prot=SCNBA_HUMAN&from=611&to=810&var=K679N	ENST00000302328		ENSG00000168356	10583		82	4.225		HGNC	p.K679N		SCN11A		SNV			1				ENST00000450244	protein_coding	getma.org/?cm=var&var=hg19,3,38938702,C,A&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Superfamily_domains:SSF81324		K/N		A	high	2236/6500		getma.org/?cm=msa&ty=f&p=SCNBA_HUMAN&rb=611&re=810&var=K679N	deleterious(0)				YES	SCN11A,missense_variant,p.Lys679Asn,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,missense_variant,p.Lys679Asn,ENST00000450244,NM_001287223.1;SCN11A,missense_variant,p.Lys679Asn,ENST00000444237,;SCN11A,missense_variant,p.Lys679Asn,ENST00000456224,;							MODERATE	2037/5376	K679N	SCNBA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307599		CCDS33737.1			1	
FOXJ2	0	LGGM	GRCh37	12	8203156	8203156	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	80	5	.	.	ENST00000162391.3:c.1576C>T	p.Pro526Ser	p.P526S	ENST00000162391	NM_018416.2	526	Cct/Tct	0	1	1	UPI000012ADE1	0	NA	ENST00000162391		ENSG00000065970	24818		85	-0.41		HGNC	p.P526S		FOXJ2		SNV							ENST00000162391	protein_coding	getma.org/?cm=var&var=hg19,12,8203156,C,T&fts=all		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF103		P/S		T	neutral	2721/5523		getma.org/?cm=msa&ty=f&p=FOXJ2_HUMAN&rb=411&re=574&var=P526S	tolerated(0.3)				YES	FOXJ2,missense_variant,p.Pro526Ser,ENST00000162391,NM_018416.2;FOXJ2,downstream_gene_variant,,ENST00000428177,;FOXJ2,non_coding_transcript_exon_variant,,ENST00000539192,;							MODERATE	1576/1725	P526S	FOXJ2_HUMAN			Transcript		benign(0.005)	.	ENSP00000162391		CCDS8587.1			1	
CCNB3	0	LGGM	GRCh37	X	50054285	50054285	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	59	6	.	.	ENST00000376042.1:c.3116G>A	p.Cys1039Tyr	p.C1039Y	ENST00000376042		1039	tGc/tAc	0	1		UPI000022DC76	0	NA	ENST00000276014		ENSG00000147082	18709		65	0		HGNC	p.C1039Y	rs782661313	CCNB3	9.88E-05	SNV							ENST00000276014	protein_coding	getma.org/?cm=var&var=hg19,X,50054285,G,A&fts=all				C/Y		A	neutral	3230/4509		getma.org/?cm=msa&ty=f&p=CCNB3_HUMAN&rb=1001&re=1131&var=C1039Y	tolerated(1)	Q8WTR6_HUMAN				CCNB3,missense_variant,p.Cys1039Tyr,ENST00000376042,;CCNB3,missense_variant,p.Cys1039Tyr,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000476167,;							MODERATE	3116/4188	C1039Y	CCNB3_HUMAN			Transcript		benign(0.384)	.	ENSP00000276014	1.65E-05	CCDS14331.1			1	
FAM83F	0	LGGM	GRCh37	22	40417636	40417636	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	20	6	.	.	ENST00000333407.6:c.1122C>T	p.Phe374=	p.F374=	ENST00000333407	NM_138435.2	374	ttC/ttT	0	1	1	UPI0000071BF1	0		ENST00000333407		ENSG00000133477	25148		26			HGNC	p.F374F		FAM83F		SNV							ENST00000333407	protein_coding			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF9		F		T		1216/15561							YES	FAM83F,synonymous_variant,p.=,ENST00000333407,NM_138435.2;FAM83F,synonymous_variant,p.=,ENST00000473717,;							LOW	1122/1503		FA83F_HUMAN			Transcript			.	ENSP00000330432		CCDS14000.2			1	
ARSG	0	LGGM	GRCh37	17	66381280	66381280	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	39	7	.	.	ENST00000448504.2:c.1058T>C	p.Val353Ala	p.V353A	ENST00000448504	NM_014960.4	353	gTt/gCt	0	1	1	UPI000003FD81	0	getma.org/pdb.php?prot=ARSG_HUMAN&from=36&to=467&var=V353A	ENST00000448504		ENSG00000141337	24102		46	2.435		HGNC	p.V353A		ARSG		SNV							ENST00000448504	protein_coding	getma.org/?cm=var&var=hg19,17,66381280,T,C&fts=all		Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF186		V/A		C	medium	1854/4642		getma.org/?cm=msa&ty=f&p=ARSG_HUMAN&rb=36&re=467&var=V353A	deleterious(0)	J9JIG6_HUMAN,J3KS49_HUMAN			YES	ARSG,missense_variant,p.Val353Ala,ENST00000448504,NM_014960.4;ARSG,missense_variant,p.Val189Ala,ENST00000452479,NM_001267727.1;ARSG,non_coding_transcript_exon_variant,,ENST00000582154,;							MODERATE	1058/1578	V353A	ARSG_HUMAN			Transcript		possibly_damaging(0.528)	.	ENSP00000407193		CCDS11676.1			1	
MSR1	0	LGGM	GRCh37	8	16026106	16026106	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	131	7	.	.	ENST00000262101.5:c.491C>G	p.Ser164Cys	p.S164C	ENST00000262101		164	tCc/tGc	0	1	1	UPI000012F686	0	NA	ENST00000262101		ENSG00000038945	7376		138	1.795		HGNC	p.S182C		MSR1		SNV			1				ENST00000445506	protein_coding	getma.org/?cm=var&var=hg19,8,16026106,G,C&fts=all		hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Pfam_domain:PF03523,Prints_domain:PR01408		S/C		C	low	613/2132		getma.org/?cm=msa&ty=f&p=MSRE_HUMAN&rb=121&re=169&var=S164C	deleterious(0.02)	E5RFW8_HUMAN			YES	MSR1,missense_variant,p.Ser164Cys,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,missense_variant,p.Ser164Cys,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Ser164Cys,ENST00000262101,;MSR1,missense_variant,p.Ser182Cys,ENST00000445506,;MSR1,missense_variant,p.Ser164Cys,ENST00000355282,;MSR1,intron_variant,,ENST00000536385,;MSR1,upstream_gene_variant,,ENST00000522672,;MSR1,intron_variant,,ENST00000519060,;							MODERATE	491/1356	S164C	MSRE_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000262101		CCDS5995.1			1	
DHX36	0	LGGM	GRCh37	3	154022644	154022644	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	70	7	.	.	ENST00000496811.1:c.1086A>G	p.Val362=	p.V362=	ENST00000496811	NM_020865.2	362	gtA/gtG	0	1	1	UPI000013ED25	0		ENST00000496811		ENSG00000174953	14410		77			HGNC	p.V362V		DHX36		SNV							ENST00000329463	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF100,SMART_domains:SM00487,Superfamily_domains:SSF52540		V		C		1167/6733				E7EWK3_HUMAN			YES	DHX36,synonymous_variant,p.=,ENST00000496811,NM_020865.2;DHX36,synonymous_variant,p.=,ENST00000544526,;DHX36,synonymous_variant,p.=,ENST00000308361,;DHX36,synonymous_variant,p.=,ENST00000329463,NM_001114397.1;DHX36,synonymous_variant,p.=,ENST00000481941,;DHX36,non_coding_transcript_exon_variant,,ENST00000460875,;DHX36,downstream_gene_variant,,ENST00000462464,;							LOW	1086/3027		DHX36_HUMAN			Transcript			.	ENSP00000417078		CCDS3171.1			1	
KMT2A	0	LGGM	GRCh37	11	118371829	118371829	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	43	8	.	.	ENST00000534358.1:c.6286A>G	p.Arg2096Gly	p.R2096G	ENST00000534358	NM_005933.3	2096	Agg/Ggg	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		51	1.845		HGNC	p.R2096G		KMT2A		SNV			1				ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118371829,A,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		R/G		G	low	6277/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=2074&re=2273&var=R2093G		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Arg2096Gly,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Arg2055Gly,ENST00000354520,;KMT2A,missense_variant,p.Arg2093Gly,ENST00000389506,;KMT2A,non_coding_transcript_exon_variant,,ENST00000528278,;							MODERATE	6277/11910	R2093G	KMT2A_HUMAN			Transcript		possibly_damaging(0.62)	.	ENSP00000374157		CCDS31686.1			1	
KSR2	0	LGGM	GRCh37	12	118198881	118198881	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	28	8	.	.	ENST00000339824.5:c.921G>T	p.Ala307=	p.A307=	ENST00000339824		307	gcG/gcT	0	1	1	UPI000152636C	0		ENST00000339824		ENSG00000171435	18610		36			HGNC	p.A307A		KSR2		SNV							ENST00000339824	protein_coding					A		A		1649/4429				E9PB13_HUMAN			YES	KSR2,synonymous_variant,p.=,ENST00000425217,NM_173598.4;KSR2,synonymous_variant,p.=,ENST00000339824,;							LOW	921/2853		KSR2_HUMAN			Transcript			.	ENSP00000339952					1	
ATP8B2	0	LGGM	GRCh37	1	154310025	154310025	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	176	8	.	.	ENST00000368489.3:c.1133+5G>T		p.X378_splice	ENST00000368489	NM_020452.3			0	1	1	UPI00001B92AB	0		ENST00000368489		ENSG00000143515	13534		184			HGNC	p.V347L		ATP8B2		SNV							ENST00000368487	protein_coding							T		-/5861				Q6P3T1_HUMAN			YES	ATP8B2,missense_variant,p.Val347Leu,ENST00000368487,NM_001005855.1;ATP8B2,splice_region_variant,,ENST00000368489,NM_020452.3;ATP8B2,splice_region_variant,,ENST00000341822,;RNU7-57P,upstream_gene_variant,,ENST00000459540,;ATP8B2,splice_region_variant,,ENST00000426445,;							LOW	-/3672		AT8B2_HUMAN			Transcript			.	ENSP00000357475		CCDS1066.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64617175	64617175	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	118	9	.	.	ENST00000498707.1:c.2345G>A	p.Arg782Gln	p.R782Q	ENST00000498707	NM_182920.1	782	cGg/cAg	0	1	1	UPI00000463F0	0	NA	ENST00000498707		ENSG00000163638	13202		127	2.035		HGNC	p.R754Q	COSM393622	ADAMTS9		SNV						1	ENST00000295903	protein_coding	getma.org/?cm=var&var=hg19,3,64617175,C,T&fts=all		hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF05986		R/Q		T	medium	2688/7464		getma.org/?cm=msa&ty=f&p=ATS9_HUMAN&rb=753&re=871&var=R782Q	tolerated(0.13)	B4E0E4_HUMAN			YES	ADAMTS9,missense_variant,p.Arg782Gln,ENST00000498707,NM_182920.1;ADAMTS9,missense_variant,p.Arg754Gln,ENST00000295903,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;					1		MODERATE	2345/5808	R782Q	ATS9_HUMAN			Transcript		benign(0.087)	.	ENSP00000418735		CCDS2903.1			1	
TRPM8	0	LGGM	GRCh37	2	234858698	234858698	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	25	10	.	.	ENST00000324695.4:c.1048A>T	p.Thr350Ser	p.T350S	ENST00000324695	NM_024080.4	350	Aca/Tca	0	1	1	UPI0000456F32	0	NA	ENST00000324695		ENSG00000144481	17961		35	1.32		HGNC	p.T350S		TRPM8		SNV							ENST00000324695	protein_coding	getma.org/?cm=var&var=hg19,2,234858698,A,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF9		T/S		T	low	1088/5621		getma.org/?cm=msa&ty=f&p=TRPM8_HUMAN&rb=201&re=400&var=T350S	tolerated(0.11)				YES	TRPM8,missense_variant,p.Thr350Ser,ENST00000324695,NM_024080.4;TRPM8,missense_variant,p.Thr38Ser,ENST00000433712,;AC005538.5,intron_variant,,ENST00000455991,;TRPM8,3_prime_UTR_variant,,ENST00000444298,;TRPM8,upstream_gene_variant,,ENST00000487033,;							MODERATE	1048/3315	T350S	TRPM8_HUMAN			Transcript		benign(0.003)	.	ENSP00000323926		CCDS33407.1			1	
PLA2G4E	0	LGGM	GRCh37	15	42302331	42302332	+	intron_variant	Intron	INS	-	-	A	novel	by Submitter	H050267	H050267N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	5	10	.	.	ENST00000399518.3:c.257-2269_257-2268insT		*86*	ENST00000399518	NM_001206670.1			0	1	1	UPI0000E59BE5	0		ENST00000399518		ENSG00000188089	24791		15			HGNC	p.A39fs	rs748612246	PLA2G4E		insertion							ENST00000413860	protein_coding							A		-/5266				B7WPN2_HUMAN			YES	PLA2G4E,frameshift_variant,p.Ala39CysfsTer15,ENST00000413860,;PLA2G4E,intron_variant,,ENST00000399518,NM_001206670.1;CTD-2382E5.2,downstream_gene_variant,,ENST00000552704,;							MODIFIER	-/2607					Transcript			.	ENSP00000382434		CCDS55962.1			1	
WDR54	0	LGGM	GRCh37	2	74651076	74651076	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	30	10	.	.	ENST00000348227.4:c.501C>G	p.Ile167Met	p.I167M	ENST00000348227	NM_032118.2	167	atC/atG	0	1	1	UPI0000070D06	0	NA	ENST00000348227		ENSG00000005448	25770		40	1.525		HGNC	p.I167M		WDR54		SNV							ENST00000348227	protein_coding	getma.org/?cm=var&var=hg19,2,74651076,C,G&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF150,PROSITE_profiles:PS50294		I/M		G	low	589/1147		getma.org/?cm=msa&ty=f&p=WDR54_HUMAN&rb=1&re=200&var=I167M	deleterious(0)				YES	WDR54,missense_variant,p.Ile167Met,ENST00000348227,NM_032118.2;WDR54,missense_variant,p.Ile115Met,ENST00000409791,;WDR54,missense_variant,p.Ile149Met,ENST00000426787,;RTKN,downstream_gene_variant,,ENST00000305557,NM_033046.2;RTKN,downstream_gene_variant,,ENST00000233330,NM_001015056.1;RTKN,downstream_gene_variant,,ENST00000272430,NM_001015055.1;C2orf81,upstream_gene_variant,,ENST00000518863,;WDR54,non_coding_transcript_exon_variant,,ENST00000461531,;WDR54,non_coding_transcript_exon_variant,,ENST00000469321,;WDR54,non_coding_transcript_exon_variant,,ENST00000468778,;WDR54,non_coding_transcript_exon_variant,,ENST00000465134,;WDR54,non_coding_transcript_exon_variant,,ENST00000480089,;WDR54,non_coding_transcript_exon_variant,,ENST00000482880,;RTKN,downstream_gene_variant,,ENST00000492013,;WDR54,upstream_gene_variant,,ENST00000482605,;WDR54,downstream_gene_variant,,ENST00000493982,;WDR54,downstream_gene_variant,,ENST00000469932,;WDR54,downstream_gene_variant,,ENST00000475328,;							MODERATE	501/1005	I167M	WDR54_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000006526		CCDS1940.1			1	
GART	0	LGGM	GRCh37	21	34882215	34882215	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	21	10	.	.	ENST00000381831.3:c.2327T>C	p.Val776Ala	p.V776A	ENST00000381831	NM_001136005.1	776	gTg/gCg	0	1		UPI0000132A2A	0	getma.org/pdb.php?prot=PUR2_HUMAN&from=606&to=777&var=V776A	ENST00000381815		ENSG00000159131	4163		31	2.82		HGNC	p.V776A		GART		SNV							ENST00000381839	protein_coding	getma.org/?cm=var&var=hg19,21,34882215,A,G&fts=all		Gene3D:3.90.650.10,HAMAP:MF_00741_B,Pfam_domain:PF02769,hmmpanther:PTHR10520,hmmpanther:PTHR10520:SF10		V/A		G	medium	2442/3341		getma.org/?cm=msa&ty=f&p=PUR2_HUMAN&rb=606&re=777&var=V776A	deleterious(0)	Q71VH3_HUMAN,C9JZG2_HUMAN,C9JTV6_HUMAN,C9JKQ7_HUMAN,C9JBJ1_HUMAN,B4DJ93_HUMAN				GART,missense_variant,p.Val776Ala,ENST00000381831,NM_001136005.1;GART,missense_variant,p.Val776Ala,ENST00000381839,NM_001136006.1;GART,missense_variant,p.Val776Ala,ENST00000381815,NM_000819.4;GART,missense_variant,p.Val328Ala,ENST00000543717,;GART,3_prime_UTR_variant,,ENST00000424203,;GART,non_coding_transcript_exon_variant,,ENST00000487155,;GART,non_coding_transcript_exon_variant,,ENST00000482663,;							MODERATE	2327/3033	V776A	PUR2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000371236		CCDS13627.1			1	
TSKS	0	LGGM	GRCh37	19	50243068	50243068	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	59	10	.	.	ENST00000246801.3:c.1744C>T	p.Pro582Ser	p.P582S	ENST00000246801	NM_021733.1	582	Ccc/Tcc	0	1	1	UPI000007272E	0	NA	ENST00000246801		ENSG00000126467	30719		69	0.695		HGNC	p.P582S		TSKS		SNV							ENST00000246801	protein_coding	getma.org/?cm=var&var=hg19,19,50243068,G,A&fts=all		hmmpanther:PTHR14351:SF1,hmmpanther:PTHR14351,Pfam_domain:PF15358		P/S		A	neutral	1827/1883		getma.org/?cm=msa&ty=f&p=TSKS_HUMAN&rb=1&re=591&var=P582S	deleterious_low_confidence(0.01)				YES	TSKS,missense_variant,p.Pro582Ser,ENST00000246801,NM_021733.1;TSKS,missense_variant,p.Pro382Ser,ENST00000358830,;TSKS,non_coding_transcript_exon_variant,,ENST00000599325,;							MODERATE	1744/1779	P582S	TSKS_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000246801		CCDS12780.1			1	
EEA1	0	LGGM	GRCh37	12	93195405	93195405	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	51	11	.	.	ENST00000322349.8:c.2743C>A	p.Leu915Met	p.L915M	ENST00000322349	NM_003566.3	915	Ctg/Atg	0	1	1	UPI000013C754	0	NA	ENST00000322349		ENSG00000102189	3185		62	0.895		HGNC	p.L915M		EEA1		SNV							ENST00000322349	protein_coding	getma.org/?cm=var&var=hg19,12,93195405,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23164,hmmpanther:PTHR23164:SF2,Low_complexity_(Seg):seg		L/M		T	low	3008/9875		getma.org/?cm=msa&ty=f&p=EEA1_HUMAN&rb=108&re=1346&var=L915M	tolerated(0.26)				YES	EEA1,missense_variant,p.Leu915Met,ENST00000322349,NM_003566.3;EEA1,downstream_gene_variant,,ENST00000418984,;							MODERATE	2743/4236	L915M	EEA1_HUMAN			Transcript		benign(0.089)	.	ENSP00000317955		CCDS31874.1			1	
GAREM	0	LGGM	GRCh37	18	29867935	29867935	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	60	12	.	.	ENST00000269209.6:c.625A>G	p.Ile209Val	p.I209V	ENST00000269209		209	Att/Gtt	0	1	1	UPI00005A72DA	0	NA	ENST00000269209		ENSG00000141441	26136		72	-0.17		HGNC	p.I209V	rs755725005	GAREM		SNV				9.61E-05			ENST00000399218	protein_coding	getma.org/?cm=var&var=hg19,18,29867935,T,C&fts=all		Pfam_domain:PF12736,hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF6		I/V		C	neutral	629/3006		getma.org/?cm=msa&ty=f&p=FA59A_HUMAN&rb=32&re=325&var=I209V	tolerated(0.46)				YES	GAREM,missense_variant,p.Ile209Val,ENST00000399218,NM_001242409.1,NM_022751.2;GAREM,missense_variant,p.Ile209Val,ENST00000269209,;GAREM,upstream_gene_variant,,ENST00000583696,;RP11-344B2.2,non_coding_transcript_exon_variant,,ENST00000579580,;GAREM,non_coding_transcript_exon_variant,,ENST00000578619,;							MODERATE	625/2631	I209V	GAREM_HUMAN			Transcript		benign(0.035)	.	ENSP00000269209	8.24E-06	CCDS56057.1			1	
SIMC1	0	LGGM	GRCh37	5	175749356	175749356	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	49	12	.	.	ENST00000341199.6:c.668G>C	p.Gly223Ala	p.G223A	ENST00000341199	NM_198567.4	223	gGa/gCa	0	1		UPI000013E866	0	NA	ENST00000443967		ENSG00000170085	24779		61	1.245		HGNC	p.G638A		SIMC1		SNV							ENST00000443967	protein_coding	getma.org/?cm=var&var=hg19,5,175749356,G,C&fts=all		hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3		G/A		C	low	2320/3572		getma.org/?cm=msa&ty=f&p=CE025_HUMAN&rb=24&re=870&var=G638A	tolerated(0.17)					SIMC1,missense_variant,p.Gly638Ala,ENST00000443967,;SIMC1,missense_variant,p.Gly223Ala,ENST00000341199,NM_198567.4;SIMC1,missense_variant,p.Gly223Ala,ENST00000430704,;SIMC1,missense_variant,p.Gly99Ala,ENST00000332772,;SIMC1,non_coding_transcript_exon_variant,,ENST00000481515,;							MODERATE	1913/2619	G638A	SIMC1_HUMAN			Transcript		benign(0.124)	.	ENSP00000406571					1	
SKP1	0	LGGM	GRCh37	5	133502908	133502908	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	41	12	.	.	ENST00000353411.6:c.124G>A	p.Asp42Asn	p.D42N	ENST00000353411	NM_170679.2	42	Gat/Aat	0	1	1	UPI00000002C9	0	getma.org/pdb.php?prot=SKP1_HUMAN&from=2&to=67&var=D42N	ENST00000353411		ENSG00000113558	10899		53	0.57		HGNC	p.D76N		SKP1		SNV							ENST00000519718	protein_coding	getma.org/?cm=var&var=hg19,5,133502908,C,T&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF03931,PIRSF_domain:PIRSF028729,hmmpanther:PTHR11165,Low_complexity_(Seg):seg,SMART_domains:SM00512,Superfamily_domains:SSF54695		D/N		T	neutral	308/9467		getma.org/?cm=msa&ty=f&p=SKP1_HUMAN&rb=2&re=67&var=D42N	tolerated(0.3)	E7ERH2_HUMAN,E5RGM3_HUMAN			YES	SKP1,missense_variant,p.Asp42Asn,ENST00000353411,NM_170679.2;SKP1,missense_variant,p.Asp42Asn,ENST00000522552,NM_006930.3;SKP1,missense_variant,p.Asp42Asn,ENST00000521216,;SKP1,missense_variant,p.Asp42Asn,ENST00000517625,;SKP1,missense_variant,p.Asp42Asn,ENST00000522855,;SKP1,missense_variant,p.Asp42Asn,ENST00000519321,;SKP1,missense_variant,p.Asp42Asn,ENST00000520417,;SKP1,missense_variant,p.Asp42Asn,ENST00000328392,;CTD-2410N18.5,missense_variant,p.Asp76Asn,ENST00000519718,;SKP1,3_prime_UTR_variant,,ENST00000523966,;SKP1,3_prime_UTR_variant,,ENST00000519054,;							MODERATE	124/492	D42N	SKP1_HUMAN			Transcript		benign(0.067)	.	ENSP00000231487		CCDS4171.1			1	
PRAG1	0	LGGM	GRCh37	8	8234426	8234426	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	10	13	.	.	ENST00000520004.1:c.1493A>G	p.Gln498Arg	p.Q498R	ENST00000520004		498	cAg/cGg	0	1	1	UPI00001D82A6	0	NA	ENST00000520004		ENSG00000182319			23	1.645		Uniprot_gn	p.Q498R		SGK223		SNV							ENST00000520004	protein_coding	getma.org/?cm=var&var=hg19,8,8234426,T,C&fts=all		hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972		Q/R		C	low	1758/4891		getma.org/?cm=msa&ty=f&p=SG223_HUMAN&rb=398&re=597&var=Q498R					YES	SGK223,missense_variant,p.Gln498Arg,ENST00000520004,;SGK223,missense_variant,p.Gln498Arg,ENST00000330777,NM_001080826.1;							MODERATE	1493/4209	Q498R	SG223_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000428054		CCDS43706.1			1	
EIF1AX	0	LGGM	GRCh37	X	20148720	20148720	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	18	13	.	.	ENST00000379607.5:c.343A>G	p.Ile115Val	p.I115V	ENST00000379607	NM_001412.3	115	Atc/Gtc	0	1	1	UPI00000041DF	0	getma.org/pdb.php?prot=IF1AX_HUMAN&from=95&to=144&var=I115V	ENST00000379607		ENSG00000173674	3250		31	2.165		HGNC	p.I87V		EIF1AX		SNV			1				ENST00000379593	protein_coding	getma.org/?cm=var&var=hg19,X,20148720,T,C&fts=all		hmmpanther:PTHR21668,hmmpanther:PTHR21668:SF2,Gene3D:2.40.50.140,Superfamily_domains:SSF50249		I/V		C	medium	547/4427		getma.org/?cm=msa&ty=f&p=IF1AX_HUMAN&rb=95&re=144&var=I115V	tolerated(0.19)				YES	EIF1AX,missense_variant,p.Ile115Val,ENST00000379607,NM_001412.3;EIF1AX,missense_variant,p.Ile87Val,ENST00000379593,;							MODERATE	343/435	I115V	IF1AX_HUMAN			Transcript		benign(0.031)	.	ENSP00000368927		CCDS14196.1			1	
ATRN	0	LGGM	GRCh37	20	3556534	3556534	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	127	15	.	.	ENST00000262919.5:c.2153A>G	p.Asn718Ser	p.N718S	ENST00000262919	NM_139321.2	718	aAt/aGt	0	1	1	UPI000012661C	0	NA	ENST00000262919		ENSG00000088812	885		142	1.79		HGNC	p.N718S		ATRN		SNV							ENST00000446916	protein_coding	getma.org/?cm=var&var=hg19,20,3556534,A,G&fts=all		hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574,SMART_domains:SM00423		N/S		G	low	2221/8633		getma.org/?cm=msa&ty=f&p=ATRN_HUMAN&rb=703&re=748&var=N718S	tolerated(0.08)				YES	ATRN,missense_variant,p.Asn718Ser,ENST00000262919,NM_139321.2;ATRN,missense_variant,p.Asn718Ser,ENST00000446916,NM_139322.2,NM_001207047.1;							MODERATE	2153/4290	N718S	ATRN_HUMAN			Transcript		benign(0.189)	.	ENSP00000262919		CCDS13053.1			1	
CACNG4	0	LGGM	GRCh37	17	65026793	65026793	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	70	15	.	.	ENST00000262138.3:c.657G>A	p.Arg219=	p.R219=	ENST00000262138	NM_014405.3	219	cgG/cgA	0	1	1	UPI0000001649	0		ENST00000262138		ENSG00000075461	1408		85			HGNC	p.R219R		CACNG4		SNV							ENST00000262138	protein_coding			hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7		R		A		659/3380							YES	CACNG4,synonymous_variant,p.=,ENST00000262138,NM_014405.3;AC005544.1,upstream_gene_variant,,ENST00000375684,;RP11-74H8.1,downstream_gene_variant,,ENST00000579138,;							LOW	657/984		CCG4_HUMAN			Transcript			.	ENSP00000262138		CCDS11667.1			1	
ANKRD34A	0	LGGM	GRCh37	1	145473677	145473677	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	28	15	.	.	ENST00000323397.4:c.349C>G	p.His117Asp	p.H117D	ENST00000323397	NM_001039888.3	117	Cac/Gac	0	1	1	UPI00001410C4	0	getma.org/pdb.php?prot=AN34A_HUMAN&from=54&to=142&var=H117D	ENST00000323397		ENSG00000181039	27639		43	1.37		HGNC	p.H117D		ANKRD34A		SNV							ENST00000323397	protein_coding	getma.org/?cm=var&var=hg19,1,145473677,C,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF4,SMART_domains:SM00248,Superfamily_domains:SSF48403		H/D		G	low	1642/3611		getma.org/?cm=msa&ty=f&p=AN34A_HUMAN&rb=54&re=142&var=H117D	deleterious(0.01)				YES	ANKRD34A,missense_variant,p.His117Asp,ENST00000323397,NM_001039888.3;LIX1L,upstream_gene_variant,,ENST00000369308,NM_153713.2;POLR3GL,upstream_gene_variant,,ENST00000369314,NM_032305.1;POLR3GL,upstream_gene_variant,,ENST00000369313,;RP11-315I20.1,downstream_gene_variant,,ENST00000600340,;POLR3GL,upstream_gene_variant,,ENST00000446572,;POLR3GL,upstream_gene_variant,,ENST00000471706,;							MODERATE	349/1491	H117D	AN34A_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000314103		CCDS30829.1			1	
FAM65B	0	LGGM	GRCh37	6	24848271	24848271	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	56	15	.	.	ENST00000259698.4:c.1059C>T	p.Phe353=	p.F353=	ENST00000259698	NM_014722.2	353	ttC/ttT	0	1	1	UPI0000EE554D	0		ENST00000259698		ENSG00000111913	13872		71			HGNC	p.F387F		FAM65B		SNV			1				ENST00000510784	protein_coding			hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2		F		A		1235/5471				H3BP45_HUMAN			YES	FAM65B,synonymous_variant,p.=,ENST00000259698,NM_014722.2;FAM65B,synonymous_variant,p.=,ENST00000538035,NM_001286445.1;FAM65B,synonymous_variant,p.=,ENST00000540914,NM_001286447.1;FAM65B,synonymous_variant,p.=,ENST00000378023,NM_015864.2;FAM65B,synonymous_variant,p.=,ENST00000510784,;FAM65B,upstream_gene_variant,,ENST00000473070,;							LOW	1059/3207		FA65B_HUMAN			Transcript			.	ENSP00000259698		CCDS47383.1			1	
MSR1	0	LGGM	GRCh37	8	16026131	16026131	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	130	16	.	.	ENST00000262101.5:c.466C>G	p.Leu156Val	p.L156V	ENST00000262101		156	Ctt/Gtt	0	1	1	UPI000012F686	0	NA	ENST00000262101		ENSG00000038945	7376		146	1.955		HGNC	p.L174V		MSR1		SNV			1				ENST00000445506	protein_coding	getma.org/?cm=var&var=hg19,8,16026131,G,C&fts=all		hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Pfam_domain:PF03523,Prints_domain:PR01408		L/V		C	medium	588/2132		getma.org/?cm=msa&ty=f&p=MSRE_HUMAN&rb=121&re=169&var=L156V	tolerated(0.09)	E5RFW8_HUMAN			YES	MSR1,missense_variant,p.Leu156Val,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,missense_variant,p.Leu156Val,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Leu156Val,ENST00000262101,;MSR1,missense_variant,p.Leu174Val,ENST00000445506,;MSR1,missense_variant,p.Leu156Val,ENST00000355282,;MSR1,intron_variant,,ENST00000536385,;MSR1,upstream_gene_variant,,ENST00000522672,;MSR1,intron_variant,,ENST00000519060,;							MODERATE	466/1356	L156V	MSRE_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000262101		CCDS5995.1			1	
FGF5	0	LGGM	GRCh37	4	81188197	81188197	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	67	16	.	.	ENST00000312465.7:c.219C>T	p.Gly73=	p.G73=	ENST00000312465	NM_004464.3	73	ggC/ggT	0	1	1	UPI0000039721	0		ENST00000312465		ENSG00000138675	3683		83			HGNC	p.G34G		FGF5		SNV			1				ENST00000507780	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF23		G		T		445/4555				Q8NF90_HUMAN,Q8NBG6_HUMAN			YES	FGF5,synonymous_variant,p.=,ENST00000456523,NM_033143.2;FGF5,synonymous_variant,p.=,ENST00000312465,NM_004464.3;FGF5,non_coding_transcript_exon_variant,,ENST00000380628,;FGF5,upstream_gene_variant,,ENST00000503413,;FGF5,synonymous_variant,p.=,ENST00000507780,;							LOW	219/807		FGF5_HUMAN			Transcript			.	ENSP00000311697		CCDS34021.1			1	
UNC79	0	LGGM	GRCh37	14	94149023	94149023	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	55	17	.	.	ENST00000256339.4:c.6388A>T	p.Ile2130Leu	p.I2130L	ENST00000256339	NM_020818.3	2130	Ata/Tta	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		72	1.155		HGNC	p.I2130L		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94149023,A,T&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		I/L		T	low	6919/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=I2307L	tolerated(0.32)					UNC79,missense_variant,p.Ile2329Leu,ENST00000553484,;UNC79,missense_variant,p.Ile2268Leu,ENST00000555664,;UNC79,missense_variant,p.Ile2130Leu,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ile2307Leu,ENST00000393151,;							MODERATE	6919/7908	I2307L	UNC79_HUMAN			Transcript		benign(0.425)	.	ENSP00000376858					1	
HEATR5B	0	LGGM	GRCh37	2	37227894	37227894	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	61	17	.	.	ENST00000233099.5:c.5380A>G	p.Ile1794Val	p.I1794V	ENST00000233099	NM_019024.1	1794	Ata/Gta	0	1	1	UPI0000160DCD	0	NA	ENST00000233099		ENSG00000008869	29273		78	-0.695		HGNC	p.I1794V	rs768520279	HEATR5B		SNV				9.61E-05			ENST00000233099	protein_coding	getma.org/?cm=var&var=hg19,2,37227894,T,C&fts=all		hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371		I/V		C	neutral	5476/6905		getma.org/?cm=msa&ty=f&p=HTR5B_HUMAN&rb=1601&re=1800&var=I1794V	tolerated(1)				YES	HEATR5B,missense_variant,p.Ile1794Val,ENST00000233099,NM_019024.1;HEATR5B,missense_variant,p.Ile1705Val,ENST00000354531,;							MODERATE	5380/6216	I1794V	HTR5B_HUMAN			Transcript		benign(0.001)	.	ENSP00000233099	8.24E-06	CCDS33181.1			1	
KRTAP10-5	0	LGGM	GRCh37	21	46000243	46000243	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	51	18	.	.	ENST00000400372.1:c.213C>G	p.Pro71=	p.P71=	ENST00000400372	NM_198694.2	71	ccC/ccG	0	1	1	UPI000050C093	0		ENST00000400372		ENSG00000241123	22969		69			HGNC	p.P71P	rs782692166	KRTAP10-5	6.08E-05	SNV							ENST00000400372	protein_coding			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF30,Low_complexity_(Seg):seg		P		C		239/1150							YES	KRTAP10-5,synonymous_variant,p.=,ENST00000400372,NM_198694.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;							LOW	213/816		KR105_HUMAN			Transcript			.	ENSP00000383223	8.25E-06	CCDS42958.1			1	
NALCN	0	LGGM	GRCh37	13	101755534	101755534	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	77	19	.	.	ENST00000251127.6:c.3046G>A	p.Glu1016Lys	p.E1016K	ENST00000251127	NM_052867.2	1016	Gaa/Aaa	0	1	1	UPI000004EBBD	0	getma.org/pdb.php?prot=NALCN_HUMAN&from=920&to=1155&var=E1016K	ENST00000251127		ENSG00000102452	19082		96	1.345		HGNC	p.E1016K	COSM1722311	NALCN		SNV			1			1	ENST00000251127	protein_coding	getma.org/?cm=var&var=hg19,13,101755534,C,T&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324		E/K		T	low	3128/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=920&re=1155&var=E1016K	deleterious(0)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Glu1016Lys,ENST00000251127,NM_052867.2;					1		MODERATE	3046/5217	E1016K	NALCN_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000251127		CCDS9498.1			1	
WDR52	0	LGGM	GRCh37	3	113015620	113015620	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	274	20	.	.	ENST00000393845.2:c.5190A>G	p.Arg1730=	p.R1730=	ENST00000393845	NM_001164496.1	1730	agA/agG	0	1	1	UPI0000367198	0		ENST00000393845		ENSG00000206530	25631		294			HGNC	p.R333R		WDR52		SNV							ENST00000308346	protein_coding					R		C		5257/10259				C9K0A4_HUMAN			YES	WDR52,synonymous_variant,p.=,ENST00000393845,NM_001164496.1;WDR52,synonymous_variant,p.=,ENST00000465636,;WDR52,synonymous_variant,p.=,ENST00000308346,;WDR52,synonymous_variant,p.=,ENST00000461734,;WDR52,3_prime_UTR_variant,,ENST00000489244,;WDR52,non_coding_transcript_exon_variant,,ENST00000465510,;WDR52,upstream_gene_variant,,ENST00000484923,;							LOW	5190/5565		WDR52_HUMAN			Transcript			.	ENSP00000377428		CCDS54624.1			1	
SLC8A3	0	LGGM	GRCh37	14	70633476	70633476	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	29	20	.	.	ENST00000381269.2:c.1664C>T	p.Thr555Ile	p.T555I	ENST00000381269	NM_183002.1	555	aCa/aTa	0	1	1	UPI0000073C9A	0	getma.org/pdb.php?prot=NAC3_HUMAN&from=519&to=619&var=T555I	ENST00000381269		ENSG00000100678	11070		49	2.77		HGNC	p.T555I	rs769544455	SLC8A3		SNV							ENST00000381269	protein_coding	getma.org/?cm=var&var=hg19,14,70633476,G,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072		T/I		A	medium	2418/5268	1.50E-05	getma.org/?cm=msa&ty=f&p=NAC3_HUMAN&rb=519&re=619&var=T555I	tolerated(0.16)	Q86TQ9_HUMAN			YES	SLC8A3,missense_variant,p.Thr555Ile,ENST00000381269,NM_183002.1,NM_058240.2;SLC8A3,missense_variant,p.Thr555Ile,ENST00000357887,NM_033262.3;SLC8A3,missense_variant,p.Thr555Ile,ENST00000356921,NM_182932.1;SLC8A3,missense_variant,p.Thr555Ile,ENST00000528359,;SLC8A3,missense_variant,p.Thr555Ile,ENST00000534137,;SLC8A3,missense_variant,p.Thr555Ile,ENST00000494208,;							MODERATE	1664/2784	T555I	NAC3_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000370669	8.24E-06	CCDS35498.1			1	
GLDN	0	LGGM	GRCh37	15	51692429	51692429	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	57	20	.	.	ENST00000335449.6:c.858A>G	p.Gly286=	p.G286=	ENST00000335449	NM_181789.2	286	ggA/ggG	0	1	1	UPI000015FAA3	0		ENST00000335449		ENSG00000186417	29514		77			HGNC	p.G286G		GLDN		SNV							ENST00000335449	protein_coding			hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF5		G		G		914/4971							YES	GLDN,synonymous_variant,p.=,ENST00000335449,NM_181789.2;GLDN,synonymous_variant,p.=,ENST00000396399,;GLDN,downstream_gene_variant,,ENST00000558426,;							LOW	858/1656		GLDN_HUMAN			Transcript			.	ENSP00000335196		CCDS10140.2			1	
ACTN2	0	LGGM	GRCh37	1	236924349	236924349	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	43	20	.	.	ENST00000366578.4:c.2402T>C	p.Val801Ala	p.V801A	ENST00000366578	NM_001278344.1	801	gTa/gCa	0	1	1	UPI0000125088	0	getma.org/pdb.php?prot=ACTN2_HUMAN&from=789&to=824&var=V801A	ENST00000366578		ENSG00000077522	164		63	3.165		HGNC	p.V801A		ACTN2		SNV			1				ENST00000542672	protein_coding	getma.org/?cm=var&var=hg19,1,236924349,T,C&fts=all		Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF13833,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,PROSITE_profiles:PS50222		V/A		C	medium	2568/4863		getma.org/?cm=msa&ty=f&p=ACTN2_HUMAN&rb=789&re=824&var=V801A	deleterious(0.03)	B7Z4P8_HUMAN			YES	ACTN2,missense_variant,p.Val801Ala,ENST00000366578,NM_001278344.1,NM_001103.3;ACTN2,missense_variant,p.Val801Ala,ENST00000542672,NM_001278343.1;ACTN2,missense_variant,p.Val295Ala,ENST00000546208,;ACTN2,non_coding_transcript_exon_variant,,ENST00000461367,;							MODERATE	2402/2685	V801A	ACTN2_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000355537		CCDS1613.1			1	
KMT2A	0	LGGM	GRCh37	11	118344473	118344473	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	39	22	.	.	ENST00000534358.1:c.2599A>G	p.Ser867Gly	p.S867G	ENST00000534358	NM_005933.3	867	Agc/Ggc	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		61	0.205		HGNC	p.S867G	COSM1627814,COSM1627813	KMT2A		SNV			1			1,1	ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118344473,A,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		S/G		G	neutral	2599/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1&re=1008&var=S867G		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Ser867Gly,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Ser867Gly,ENST00000354520,;KMT2A,missense_variant,p.Ser867Gly,ENST00000389506,;KMT2A,missense_variant,p.Ser900Gly,ENST00000531904,;KMT2A,intron_variant,,ENST00000533790,;KMT2A,intron_variant,,ENST00000527869,;					1,1		MODERATE	2599/11910	S867G	KMT2A_HUMAN			Transcript		benign(0.004)	.	ENSP00000374157		CCDS31686.1			1	
MSR1	0	LGGM	GRCh37	8	16026069	16026069	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	116	22	.	.	ENST00000262101.5:c.528C>T	p.Ile176=	p.I176=	ENST00000262101		176	atC/atT	0	1	1	UPI000012F686	0		ENST00000262101		ENSG00000038945	7376		138			HGNC	p.I194I	COSM1097409,COSM1597583	MSR1		SNV			1			1,1	ENST00000445506	protein_coding			hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Prints_domain:PR01408		I		A		650/2132				E5RFW8_HUMAN			YES	MSR1,synonymous_variant,p.=,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,synonymous_variant,p.=,ENST00000381998,NM_002445.3;MSR1,synonymous_variant,p.=,ENST00000262101,;MSR1,synonymous_variant,p.=,ENST00000445506,;MSR1,synonymous_variant,p.=,ENST00000355282,;MSR1,intron_variant,,ENST00000536385,;MSR1,upstream_gene_variant,,ENST00000522672,;MSR1,intron_variant,,ENST00000519060,;					1,1		LOW	528/1356		MSRE_HUMAN			Transcript			.	ENSP00000262101		CCDS5995.1			1	
BAZ2A	0	LGGM	GRCh37	12	56994751	56994751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	49	23	.	.	ENST00000551812.1:c.4432G>A	p.Glu1478Lys	p.E1478K	ENST00000551812	NM_013449.3	1478	Gaa/Aaa	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		72	1.65		HGNC	p.E1446K		BAZ2A		SNV							ENST00000179765	protein_coding	getma.org/?cm=var&var=hg19,12,56994751,C,T&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		E/K		T	low	4626/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=1311&re=1510&var=E1478K	deleterious(0)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Glu1446Lys,ENST00000179765,;BAZ2A,missense_variant,p.Glu1448Lys,ENST00000379441,;BAZ2A,missense_variant,p.Glu1478Lys,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Glu1476Lys,ENST00000549884,;BAZ2A,missense_variant,p.Glu410Lys,ENST00000549787,;BAZ2A,missense_variant,p.Glu125Lys,ENST00000547453,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000548578,;BAZ2A,downstream_gene_variant,,ENST00000551759,;							MODERATE	4432/5718	E1478K	BAZ2A_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000446880		CCDS44924.1			1	
NSL1	0	LGGM	GRCh37	1	212955750	212955750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	61	24	.	.	ENST00000366977.3:c.463G>T	p.Val155Leu	p.V155L	ENST00000366977	NM_015471.3	155	Gta/Tta	0	1	1	UPI000013D18F	0	NA	ENST00000366977		ENSG00000117697	24548		85	2.135		HGNC	p.V52L		NSL1		SNV							ENST00000366978	protein_coding	getma.org/?cm=var&var=hg19,1,212955750,C,A&fts=all		hmmpanther:PTHR31749:SF2,hmmpanther:PTHR31749,Pfam_domain:PF08641		V/L		A	medium	482/2317		getma.org/?cm=msa&ty=f&p=NSL1_HUMAN&rb=67&re=211&var=V155L	deleterious(0.01)	Q53FM2_HUMAN			YES	NSL1,missense_variant,p.Val155Leu,ENST00000366977,NM_015471.3;NSL1,missense_variant,p.Val155Leu,ENST00000422588,NM_001042549.1;NSL1,missense_variant,p.Val52Leu,ENST00000366978,;NSL1,missense_variant,p.Val155Leu,ENST00000366976,;NSL1,intron_variant,,ENST00000366975,;NSL1,non_coding_transcript_exon_variant,,ENST00000473995,;NSL1,downstream_gene_variant,,ENST00000487995,;							MODERATE	463/846	V155L	NSL1_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000355944		CCDS1509.1			1	
PTAR1	0	LGGM	GRCh37	9	72333542	72333542	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	82	28	.	.	ENST00000340434.4:c.982+24C>G		*328*	ENST00000340434	NM_001099666.1			0	1	1	UPI00001D75C1	0		ENST00000340434		ENSG00000188647	30449		110			HGNC	p.Q257E		PTAR1		SNV							ENST00000377200	protein_coding							C		-/1417							YES	PTAR1,missense_variant,p.Gln257Glu,ENST00000377200,;PTAR1,intron_variant,,ENST00000340434,NM_001099666.1;PTAR1,intron_variant,,ENST00000415701,;							MODIFIER	-/1209		PTAR1_HUMAN			Transcript			.	ENSP00000344299		CCDS47978.1			1	
HBD	0	LGGM	GRCh37	11	5255253	5255253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	64	29	.	.	ENST00000380299.3:c.283G>T	p.Asp95Tyr	p.D95Y	ENST00000380299	NM_000519.3	95	Gac/Tac	0	1	1	UPI0000161DC2	0	getma.org/pdb.php?prot=HBD_HUMAN&from=8&to=112&var=D95Y	ENST00000380299		ENSG00000223609	4829		93	1.695		HGNC	p.D95Y		HBD		SNV			1				ENST00000429817	protein_coding	getma.org/?cm=var&var=hg19,11,5255253,C,A&fts=all		Prints_domain:PR00814,Superfamily_domains:SSF46458,Pfam_domain:PF00042,Gene3D:1.10.490.10,hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF30,PROSITE_profiles:PS01033		D/Y		A	low	498/785		getma.org/?cm=msa&ty=f&p=HBD_HUMAN&rb=8&re=112&var=D95Y	deleterious(0)	A0N071_HUMAN,Q5XTR9_HUMAN,E9PEW8_HUMAN,D1MGQ0_HUMAN,D1MGP8_HUMAN			YES	HBD,missense_variant,p.Asp95Tyr,ENST00000380299,NM_000519.3;HBD,missense_variant,p.Asp95Tyr,ENST00000429817,;HBD,missense_variant,p.Asp95Tyr,ENST00000292901,;HBD,intron_variant,,ENST00000417377,;HBB,upstream_gene_variant,,ENST00000380315,;							MODERATE	283/444	D95Y	HBD_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000369654		CCDS31376.1			1	
TPCN1	0	LGGM	GRCh37	12	113707619	113707619	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	63	31	.	.	ENST00000550785.1:c.933G>T	p.Leu311=	p.L311=	ENST00000550785	NM_001143819.1	311	ctG/ctT	0	1		UPI0000041252	0		ENST00000335509		ENSG00000186815	18182		94			HGNC	p.L311L		TPCN1		SNV							ENST00000541517	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037:SF201,hmmpanther:PTHR10037,Pfam_domain:PF00520,Superfamily_domains:SSF81324		L		T		1031/5274				F8W1L6_HUMAN,F8W1G4_HUMAN,F8VV93_HUMAN,F8VR74_HUMAN,B7Z3R2_HUMAN				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,downstream_gene_variant,,ENST00000552542,;TPCN1,downstream_gene_variant,,ENST00000552985,;TPCN1,downstream_gene_variant,,ENST00000552897,;TPCN1,downstream_gene_variant,,ENST00000548465,;TPCN1,downstream_gene_variant,,ENST00000547275,;TPCN1,downstream_gene_variant,,ENST00000550873,;TPCN1,downstream_gene_variant,,ENST00000552642,;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,;TPCN1,non_coding_transcript_exon_variant,,ENST00000428632,;							LOW	717/2451		TPC1_HUMAN			Transcript			.	ENSP00000335300		CCDS31908.1			1	
OR5T2	0	LGGM	GRCh37	11	55999941	55999941	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	71	31	.	.	ENST00000313264.4:c.721T>G	p.Phe241Val	p.F241V	ENST00000313264	NM_001004746.1	241	Ttt/Gtt	0	1	1	UPI0000061E97	0	NA	ENST00000313264		ENSG00000181718	15296		102	-0.125		HGNC	p.F241V		OR5T2		SNV							ENST00000313264	protein_coding	getma.org/?cm=var&var=hg19,11,55999941,A,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		F/V		C	neutral	797/1248		getma.org/?cm=msa&ty=f&p=OR5T2_HUMAN&rb=178&re=322&var=F241V	tolerated(0.19)				YES	OR5T2,missense_variant,p.Phe241Val,ENST00000313264,NM_001004746.1;							MODERATE	721/1080	F241V	OR5T2_HUMAN			Transcript		benign(0.05)	.	ENSP00000323688		CCDS31523.1			1	
PLCL1	0	LGGM	GRCh37	2	198949465	198949465	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	88	32	.	.	ENST00000428675.1:c.1224T>C	p.Tyr408=	p.Y408=	ENST00000428675	NM_006226.3	408	taT/taC	0	1	1	UPI000165BCF5	0		ENST00000428675		ENSG00000115896	9063		120			HGNC	p.Y334Y		PLCL1		SNV							ENST00000487695	protein_coding			PROSITE_profiles:PS50007,hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,Superfamily_domains:SSF51695,Prints_domain:PR00390		Y		C		1622/5125							YES	PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;							LOW	1224/3288		PLCL1_HUMAN			Transcript			.	ENSP00000402861		CCDS2326.2			1	
GBF1	0	LGGM	GRCh37	10	104018701	104018701	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	109	35	.	.	ENST00000369983.3:c.6G>T	p.Val2=	p.V2=	ENST00000369983	NM_004193.2	2	gtG/gtT	0	1	1	UPI000012B228	0		ENST00000369983		ENSG00000107862	4181		144			HGNC	p.V2V		GBF1		SNV							ENST00000369983	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138		V		T		266/6403				Q149P0_HUMAN			YES	GBF1,synonymous_variant,p.=,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;AL160011.1,upstream_gene_variant,,ENST00000516180,;							LOW	Jun-80		GBF1_HUMAN			Transcript			.	ENSP00000359000		CCDS7533.1			1	
GBF1	0	LGGM	GRCh37	10	104018703	104018703	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050267	H050267N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	109	36	.	.	ENST00000369983.3:c.8A>T	p.Asp3Val	p.D3V	ENST00000369983	NM_004193.2	3	gAt/gTt	0	1	1	UPI000012B228	0	NA	ENST00000369983		ENSG00000107862	4181		145	-0.205		HGNC	p.D3V		GBF1		SNV							ENST00000369983	protein_coding	getma.org/?cm=var&var=hg19,10,104018703,A,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138		D/V		T	neutral	268/6403		getma.org/?cm=msa&ty=f&p=GBF1_HUMAN&rb=1&re=200&var=D3V	tolerated(0.25)	Q149P0_HUMAN			YES	GBF1,missense_variant,p.Asp3Val,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;AL160011.1,upstream_gene_variant,,ENST00000516180,;							MODERATE	Aug-80	D3V	GBF1_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000359000		CCDS7533.1			1	
MSR1	0	LGGM	GRCh37	8	16026149	16026149	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	140	39	.	.	ENST00000262101.5:c.448C>G	p.Gln150Glu	p.Q150E	ENST00000262101		150	Caa/Gaa	0	1	1	UPI000012F686	0	NA	ENST00000262101		ENSG00000038945	7376		179	2.005		HGNC	p.Q168E		MSR1		SNV			1				ENST00000445506	protein_coding	getma.org/?cm=var&var=hg19,8,16026149,G,C&fts=all		hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Pfam_domain:PF03523,Prints_domain:PR01408		Q/E		C	medium	570/2132		getma.org/?cm=msa&ty=f&p=MSRE_HUMAN&rb=121&re=169&var=Q150E	tolerated(0.15)	E5RFW8_HUMAN			YES	MSR1,missense_variant,p.Gln150Glu,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,missense_variant,p.Gln150Glu,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Gln150Glu,ENST00000262101,;MSR1,missense_variant,p.Gln168Glu,ENST00000445506,;MSR1,missense_variant,p.Gln150Glu,ENST00000355282,;MSR1,intron_variant,,ENST00000536385,;MSR1,upstream_gene_variant,,ENST00000522672,;MSR1,intron_variant,,ENST00000519060,;							MODERATE	448/1356	Q150E	MSRE_HUMAN			Transcript		benign(0.075)	.	ENSP00000262101		CCDS5995.1			1	
OTOGL	0	LGGM	GRCh37	12	80672849	80672849	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	104	40	.	.	ENST00000458043.2:c.2804G>T	p.Cys935Phe	p.C935F	ENST00000458043	NM_173591.3	935	tGc/tTc	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901		144	3.95		HGNC	p.C935F		OTOGL		SNV			1				ENST00000458043	protein_coding	getma.org/?cm=var&var=hg19,12,80672849,G,T&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,SMART_domains:SM00216		C/F		T	high	2810/8032		getma.org/?cm=msa&ty=f&p=F8W0C3_HUMAN&rb=801&re=1000&var=C935F	deleterious(0)	E2QRK2_HUMAN				OTOGL,missense_variant,p.Cys935Phe,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Cys935Phe,ENST00000547103,;							MODERATE	2804/6999	C935F	OTOGL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000447211					1	
ZDHHC23	0	LGGM	GRCh37	3	113673084	113673084	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	59	41	.	.	ENST00000330212.3:c.699C>T	p.Leu233=	p.L233=	ENST00000330212	NM_173570.3	233	ctC/ctT	0	1	1	UPI0000209F9A	0		ENST00000330212		ENSG00000184307	28654		100			HGNC	p.L233L		ZDHHC23		SNV							ENST00000330212	protein_coding			hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF17,Pfam_domain:PF01529		L		T		998/3778				C9JPJ8_HUMAN,B3KXV3_HUMAN			YES	ZDHHC23,synonymous_variant,p.=,ENST00000330212,NM_173570.3;ZDHHC23,synonymous_variant,p.=,ENST00000498275,;ZDHHC23,downstream_gene_variant,,ENST00000491556,;ZDHHC23,upstream_gene_variant,,ENST00000496083,;ZDHHC23,upstream_gene_variant,,ENST00000488129,;ZDHHC23,synonymous_variant,p.=,ENST00000478793,;							LOW	699/1230		ZDH23_HUMAN			Transcript			.	ENSP00000330485		CCDS33827.1			1	
SLFN5	0	LGGM	GRCh37	17	33588009	33588009	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050267	H050267N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	89	42	.	.	ENST00000299977.4:c.1032G>T	p.Glu344Asp	p.E344D	ENST00000299977	NM_144975.3	344	gaG/gaT	0	1	1	UPI0000237686	0	NA	ENST00000299977		ENSG00000166750	28286		131	0.28		HGNC	p.E344D		SLFN5		SNV							ENST00000542451	protein_coding	getma.org/?cm=var&var=hg19,17,33588009,G,T&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26		E/D		T	neutral	1180/10591		getma.org/?cm=msa&ty=f&p=SLFN5_HUMAN&rb=323&re=522&var=E344D	tolerated(1)				YES	SLFN5,missense_variant,p.Glu344Asp,ENST00000299977,NM_144975.3;SLFN5,missense_variant,p.Glu344Asp,ENST00000542451,;SLFN5,downstream_gene_variant,,ENST00000592325,;							MODERATE	1032/2676	E344D	SLFN5_HUMAN			Transcript		benign(0.001)	.	ENSP00000299977		CCDS32619.1			1	
HERC1	0	LGGM	GRCh37	15	63930679	63930679	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	156	59	.	.	ENST00000443617.2:c.12024A>T	p.Gly4008=	p.G4008=	ENST00000443617	NM_003922.3	4008	ggA/ggT	0	1	1	UPI0000212760	0		ENST00000443617		ENSG00000103657	4867		215			HGNC	p.G4008G		HERC1		SNV							ENST00000443617	protein_coding			PROSITE_profiles:PS50012,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985,Prints_domain:PR00633		G		A		12112/15137				H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,synonymous_variant,p.=,ENST00000443617,NM_003922.3;HERC1,upstream_gene_variant,,ENST00000561436,;HERC1,upstream_gene_variant,,ENST00000561359,;HERC1,upstream_gene_variant,,ENST00000560897,;							LOW	12024/14586		HERC1_HUMAN			Transcript			.	ENSP00000390158		CCDS45277.1			1	
SLFN12	0	LGGM	GRCh37	17	33738815	33738815	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050267	H050267N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	175	59	.	.	ENST00000394562.1:c.1279A>T	p.Ser427Cys	p.S427C	ENST00000394562		427	Agc/Tgc	0	1		UPI000013E9E5	0	NA	ENST00000304905		ENSG00000172123	25500		234	2.66		HGNC	p.S427C		SLFN12		SNV							ENST00000304905	protein_coding	getma.org/?cm=var&var=hg19,17,33738815,T,A&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF2		S/C		A	medium	1656/2383		getma.org/?cm=msa&ty=f&p=SLN12_HUMAN&rb=334&re=533&var=S427C	deleterious(0)	C9JIA1_HUMAN,C9J4K7_HUMAN				SLFN12,missense_variant,p.Ser427Cys,ENST00000394562,;SLFN12,missense_variant,p.Ser427Cys,ENST00000452764,;SLFN12,missense_variant,p.Ser427Cys,ENST00000304905,NM_018042.3;SLFN12,non_coding_transcript_exon_variant,,ENST00000460530,;RP11-686D22.8,upstream_gene_variant,,ENST00000587012,;SLFN12,non_coding_transcript_exon_variant,,ENST00000479326,;RP11-686D22.3,upstream_gene_variant,,ENST00000590539,;RP11-686D22.7,upstream_gene_variant,,ENST00000590824,;							MODERATE	1279/1737	S427C	SLN12_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000302077		CCDS11295.1			1	
OTOGL	0	LGGM	GRCh37	12	80749583	80749583	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050267	H050267N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050267N.bam, H050267T.bam	Illumina HiSeq	152	71	.	.	ENST00000458043.2:c.5634C>T	p.Cys1878=	p.C1878=	ENST00000458043	NM_173591.3	1878	tgC/tgT	0	1		UPI00020CE39B	0		ENST00000547103		ENSG00000165899	26901		223			HGNC	p.C1878C		OTOGL		SNV			1				ENST00000458043	protein_coding			hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339		C		T		5604/8032				E2QRK2_HUMAN				OTOGL,synonymous_variant,p.=,ENST00000458043,NM_173591.3;OTOGL,synonymous_variant,p.=,ENST00000547103,;OTOGL,synonymous_variant,p.=,ENST00000298820,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;							LOW	5598/6999		OTOGL_HUMAN			Transcript			.	ENSP00000447211					1	
RHBDL1	0	LGGM	GRCh37	16	726723	726723	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	22	3	.	.	ENST00000219551.2:c.448C>A	p.Arg150=	p.R150=	ENST00000219551		150	Cgg/Agg	0	1	1	UPI0000048DB3	0		ENST00000219551		ENSG00000103269	10007		25			HGNC	p.R150R		RHBDL1		SNV							ENST00000219551	protein_coding			hmmpanther:PTHR22936:SF7,hmmpanther:PTHR22936,PIRSF_domain:PIRSF037470		R		A		475/1560							YES	RHBDL1,synonymous_variant,p.=,ENST00000219551,;RHBDL1,synonymous_variant,p.=,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,,ENST00000566965,;RHOT2,downstream_gene_variant,,ENST00000564659,;RHOT2,downstream_gene_variant,,ENST00000561711,;STUB1,upstream_gene_variant,,ENST00000567790,;RHOT2,downstream_gene_variant,,ENST00000562957,;							LOW	448/1317		RHBL1_HUMAN			Transcript			.	ENSP00000219551					1	
ADAMTS13	0	LGGM	GRCh37	9	136321771	136321771	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	3	3	.	.	ENST00000371929.3:c.3822C>G	p.Arg1274=	p.R1274=	ENST00000371929	NM_139025.4	1274	cgC/cgG	0	1	1	UPI0000000DAD	0		ENST00000371929		ENSG00000160323	1366		6			HGNC	p.R70R		ADAMTS13		SNV			1				ENST00000371910	protein_coding			Superfamily_domains:SSF49854		R		G		4266/4934				Q6QNA4_HUMAN,B3KWF7_HUMAN			YES	ADAMTS13,synonymous_variant,p.=,ENST00000371929,NM_139025.4,NM_139027.4;ADAMTS13,synonymous_variant,p.=,ENST00000355699,;ADAMTS13,synonymous_variant,p.=,ENST00000356589,NM_139026.4;ADAMTS13,synonymous_variant,p.=,ENST00000371910,;ADAMTS13,3_prime_UTR_variant,,ENST00000371916,;CACFD1,upstream_gene_variant,,ENST00000316948,NM_017586.3;CACFD1,upstream_gene_variant,,ENST00000291722,NM_001135775.2;CACFD1,upstream_gene_variant,,ENST00000542192,NM_001242370.1;CACFD1,upstream_gene_variant,,ENST00000540581,NM_001242369.1;ADAMTS13,non_coding_transcript_exon_variant,,ENST00000485925,;CACFD1,upstream_gene_variant,,ENST00000489519,;CACFD1,upstream_gene_variant,,ENST00000474734,;							LOW	3822/4284		ATS13_HUMAN			Transcript			.	ENSP00000360997		CCDS6970.1			1	
DNAH7	0	LGGM	GRCh37	2	196671553	196671553	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	8	3	.	.	ENST00000312428.6:c.10087C>T	p.Pro3363Ser	p.P3363S	ENST00000312428	NM_018897.2	3363	Cca/Tca	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=3312&to=4021&var=P3363S	ENST00000312428		ENSG00000118997	18661		11	3.62		HGNC	p.P3363S		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196671553,G,A&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028		P/S		A	high	10188/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=3312&re=4021&var=P3363S	deleterious(0)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Pro3363Ser,ENST00000312428,NM_018897.2;							MODERATE	10087/12075	P3363S	DYH7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311273		CCDS42794.1			1	
PQLC1	0	LGGM	GRCh37	18	77679367	77679367	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	17	3	.	.	ENST00000397778.2:c.425G>T	p.Ser142Ile	p.S142I	ENST00000397778	NM_025078.4	142	aGc/aTc	0	1	1	UPI0000073855	0	NA	ENST00000397778		ENSG00000122490	26188		20	1.67		HGNC	p.S129I		PQLC1		SNV							ENST00000478144	protein_coding	getma.org/?cm=var&var=hg19,18,77679367,C,A&fts=all		hmmpanther:PTHR14856,hmmpanther:PTHR14856:SF10		S/I		A	low	608/2555		getma.org/?cm=msa&ty=f&p=PQLC1_HUMAN&rb=78&re=169&var=S142I	tolerated(0.12)	K7ERD3_HUMAN,B3KW14_HUMAN			YES	PQLC1,missense_variant,p.Ser142Ile,ENST00000397778,NM_025078.4;PQLC1,missense_variant,p.Ser124Ile,ENST00000357575,NM_001146345.1;PQLC1,missense_variant,p.Ser59Ile,ENST00000409073,;PQLC1,missense_variant,p.Ser129Ile,ENST00000478144,;PQLC1,intron_variant,,ENST00000590381,NM_001146343.1;PQLC1,non_coding_transcript_exon_variant,,ENST00000494607,;PQLC1,non_coding_transcript_exon_variant,,ENST00000469369,;PQLC1,non_coding_transcript_exon_variant,,ENST00000589000,;PQLC1,upstream_gene_variant,,ENST00000590895,;PQLC1,3_prime_UTR_variant,,ENST00000351365,;PQLC1,3_prime_UTR_variant,,ENST00000591964,;PQLC1,non_coding_transcript_exon_variant,,ENST00000466449,;PQLC1,intron_variant,,ENST00000474967,;							MODERATE	425/816	S142I	PQLC1_HUMAN			Transcript		benign(0.243)	.	ENSP00000380880		CCDS12020.1			1	
GPRIN3	0	LGGM	GRCh37	4	90169193	90169193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	10	3	.	.	ENST00000609438.1:c.2069G>T	p.Gly690Val	p.G690V	ENST00000609438	NM_198281.2	690	gGa/gTa	0	1		UPI00001C1E20	0	NA	ENST00000333209		ENSG00000185477	27733		13	1.845		HGNC	p.G690V		GPRIN3		SNV							ENST00000333209	protein_coding	getma.org/?cm=var&var=hg19,4,90169193,C,A&fts=all		Pfam_domain:PF15235,hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF2		G/V		A	low	3153/6260		getma.org/?cm=msa&ty=f&p=GRIN3_HUMAN&rb=672&re=774&var=G690V	deleterious(0)					GPRIN3,missense_variant,p.Gly690Val,ENST00000609438,NM_198281.2;GPRIN3,missense_variant,p.Gly690Val,ENST00000333209,;							MODERATE	2069/2331	G690V	GRIN3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328672		CCDS34030.1			1	
CACNA1S	0	LGGM	GRCh37	1	201056990	201056990	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	35	3	.	.	ENST00000362061.3:c.968T>C	p.Phe323Ser	p.F323S	ENST00000362061	NM_000069.2	323	tTc/tCc	0	1	1	UPI000020471D	0	getma.org/pdb.php?prot=CAC1S_HUMAN&from=88&to=333&var=F323S	ENST00000362061		ENSG00000081248	1397		38	4.9		HGNC	p.F323S		CACNA1S		SNV			1				ENST00000362061	protein_coding	getma.org/?cm=var&var=hg19,1,201056990,A,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		F/S		G	high	1195/6166		getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=88&re=333&var=F323S	deleterious(0)	Q13062_HUMAN,Q12966_HUMAN			YES	CACNA1S,missense_variant,p.Phe323Ser,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Phe323Ser,ENST00000367338,;							MODERATE	968/5622	F323S	CAC1S_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000355192		CCDS1407.1			1	
C5	0	LGGM	GRCh37	9	123794415	123794415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	38	3	.	.	ENST00000223642.1:c.643G>A	p.Ala215Thr	p.A215T	ENST00000223642	NM_001735.2	215	Gca/Aca	0	1	1	UPI000013C838	0	getma.org/pdb.php?prot=CO5_HUMAN&from=125&to=219&var=A215T	ENST00000223642		ENSG00000106804	1331		41	0.22		HGNC	p.A215T	rs765073719	C5		SNV			1				ENST00000223642	protein_coding	getma.org/?cm=var&var=hg19,9,123794415,C,T&fts=all		Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83		A/T		T	neutral	673/5462	3.01E-05	getma.org/?cm=msa&ty=f&p=CO5_HUMAN&rb=125&re=219&var=A215T	tolerated(0.65)				YES	C5,missense_variant,p.Ala215Thr,ENST00000223642,NM_001735.2;C5,non_coding_transcript_exon_variant,,ENST00000460578,;							MODERATE	643/5031	A215T	CO5_HUMAN			Transcript		benign(0.015)	.	ENSP00000223642	1.65E-05	CCDS6826.1			1	
RFX6	0	LGGM	GRCh37	6	117246813	117246813	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	34	3	.	.	ENST00000332958.2:c.1876C>T	p.Pro626Ser	p.P626S	ENST00000332958	NM_173560.3	626	Ccg/Tcg	0	1	1	UPI00001609BE	0	NA	ENST00000332958		ENSG00000185002	21478		37	0.695		HGNC	p.P626S		RFX6		SNV			1				ENST00000332958	protein_coding	getma.org/?cm=var&var=hg19,6,117246813,C,T&fts=all		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16		P/S		T	neutral	1892/3460		getma.org/?cm=msa&ty=f&p=RFX6_HUMAN&rb=590&re=789&var=P626S	tolerated_low_confidence(0.47)				YES	RFX6,missense_variant,p.Pro626Ser,ENST00000332958,NM_173560.3;RFX6,downstream_gene_variant,,ENST00000487683,;							MODERATE	1876/2787	P626S	RFX6_HUMAN			Transcript		benign(0.001)	.	ENSP00000332208		CCDS5113.1			1	
BLTP1	0	LGGM	GRCh37	4	123165011	123165011	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	17	3	.	.	ENST00000264501.4:c.4745C>T	p.Thr1582Met	p.T1582M	ENST00000264501		1582	aCg/aTg	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		20	0.695		HGNC	p.T1582M	rs774120909	KIAA1109	8.24E-05	SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123165011,C,T&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		T/M		T	neutral	5118/15896	1.55E-05	getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1489&re=1688&var=T1582M		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Thr1582Met,ENST00000264501,;KIAA1109,missense_variant,p.Thr1582Met,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Thr1582Met,ENST00000455637,;KIAA1109,missense_variant,p.Thr155Met,ENST00000446180,;KIAA1109,downstream_gene_variant,,ENST00000424425,;KIAA1109,downstream_gene_variant,,ENST00000495260,;KIAA1109,upstream_gene_variant,,ENST00000470182,;							MODERATE	4745/15018	T1582M	K1109_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000264501	1.66E-05	CCDS43267.1			1	
IGF2	0	LGGM	GRCh37	11	2156730	2156730	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	11	3	.	.	ENST00000434045.2:c.192G>A	p.Ser64=	p.S64=	ENST00000434045	NM_001127598.1	64	tcG/tcA	0	1		UPI0000000965	0		ENST00000300632		ENSG00000167244	5466		14			HGNC	p.S8S	rs374362537	IGF2		SNV	T:0.0002		1	9.81E-05			ENST00000416167	protein_coding			hmmpanther:PTHR11454:SF10,hmmpanther:PTHR11454,PROSITE_profiles:PS51257,Cleavage_site_(Signalp):SignalP-noTM		S	T:0.0001	T		750/5138	1.53E-05			E3UN46_HUMAN				IGF2,synonymous_variant,p.=,ENST00000416167,;IGF2,synonymous_variant,p.=,ENST00000381406,NM_000612.4;IGF2,synonymous_variant,p.=,ENST00000300632,NM_001007139.4;IGF2,synonymous_variant,p.=,ENST00000381395,;IGF2,synonymous_variant,p.=,ENST00000434045,NM_001127598.1;IGF2,synonymous_variant,p.=,ENST00000381389,;IGF2,synonymous_variant,p.=,ENST00000381392,;IGF2,synonymous_variant,p.=,ENST00000418738,;MIR483,upstream_gene_variant,,ENST00000385070,;INS-IGF2,3_prime_UTR_variant,,ENST00000356578,;							LOW	24/543		IGF2_HUMAN			Transcript			.	ENSP00000300632	1.65E-05	CCDS7728.1			1	
BMP8A	0	LGGM	GRCh37	1	39988115	39988115	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	45	3	.	.	ENST00000331593.5:c.909G>A	p.Arg303=	p.R303=	ENST00000331593	NM_181809.3	303	cgG/cgA	0	1	1	UPI00002057D6	0		ENST00000331593		ENSG00000183682	21650		48			HGNC	p.R303R		BMP8A		SNV							ENST00000331593	protein_coding			Gene3D:2.10.90.10,Pfam_domain:PF00019,Prints_domain:PR00669,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF119,SMART_domains:SM00204,Superfamily_domains:SSF57501		R		A		1255/1692							YES	BMP8A,synonymous_variant,p.=,ENST00000331593,NM_181809.3;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000331856,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000458207,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000440190,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000450157,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000431553,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000441741,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000417869,;							LOW	909/1209		BMP8A_HUMAN			Transcript			.	ENSP00000327440		CCDS437.1			1	
ZNF223	0	LGGM	GRCh37	19	44570408	44570408	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	68	4	.	.	ENST00000434772.3:c.427A>G	p.Thr143Ala	p.T143A	ENST00000434772	NM_013361.4	143	Aca/Gca	0	1	1	UPI00002025B5	0	NA	ENST00000434772		ENSG00000178386	13016		72	0.345		HGNC	p.T107A	rs754445322	ZNF223		SNV							ENST00000591850	protein_coding	getma.org/?cm=var&var=hg19,19,44570408,A,G&fts=all		hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF29		T/A		G	neutral	682/2418	4.50E-05	getma.org/?cm=msa&ty=f&p=ZN223_HUMAN&rb=49&re=147&var=T143A	tolerated(0.14)	K7EQ32_HUMAN			YES	ZNF223,missense_variant,p.Thr143Ala,ENST00000434772,NM_013361.4;ZNF223,missense_variant,p.Thr107Ala,ENST00000591850,;ZNF223,missense_variant,p.Thr253Ala,ENST00000591793,;ZNF223,downstream_gene_variant,,ENST00000593088,;							MODERATE	427/1449	T143A	ZN223_HUMAN			Transcript		benign(0.016)	.	ENSP00000401947	2.47E-05	CCDS12635.1			1	
SASH1	0	LGGM	GRCh37	6	148711395	148711395	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	9	4	.	.	ENST00000367467.3:c.282A>G	p.Glu94=	p.E94=	ENST00000367467	NM_015278.3	94	gaA/gaG	0	1	1	UPI00003519AE	0		ENST00000367467		ENSG00000111961	19182		13			HGNC	p.E49E		SASH1		SNV							ENST00000367469	protein_coding					E		G		757/7711							YES	SASH1,synonymous_variant,p.=,ENST00000367467,NM_015278.3;SASH1,synonymous_variant,p.=,ENST00000367469,;							LOW	282/3744		SASH1_HUMAN			Transcript			.	ENSP00000356437		CCDS5212.1			1	
ARHGEF10L	0	LGGM	GRCh37	1	18023462	18023462	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	4	5	.	.	ENST00000361221.3:c.3427G>A	p.Ala1143Thr	p.A1143T	ENST00000361221	NM_018125.3	1143	Gct/Act	0	1	1	UPI00003664EA	0	NA	ENST00000361221		ENSG00000074964	25540		9	0.69		HGNC	p.A916T		ARHGEF10L		SNV							ENST00000375408	protein_coding	getma.org/?cm=var&var=hg19,1,18023462,G,A&fts=all		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16		A/T		A	neutral	3586/4488		getma.org/?cm=msa&ty=f&p=ARGAL_HUMAN&rb=1103&re=1279&var=A1143T	tolerated(0.1)				YES	ARHGEF10L,missense_variant,p.Ala1143Thr,ENST00000361221,NM_018125.3;ARHGEF10L,missense_variant,p.Ala1104Thr,ENST00000452522,;ARHGEF10L,missense_variant,p.Ala1104Thr,ENST00000375415,NM_001011722.2;ARHGEF10L,missense_variant,p.Ala916Thr,ENST00000375408,;ARHGEF10L,missense_variant,p.Ala846Thr,ENST00000167825,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000495593,;							MODERATE	3427/3840	A1143T	ARGAL_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000355060		CCDS182.1			1	
PTPN7	0	LGGM	GRCh37	1	202123383	202123383	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	26	5	.	.	ENST00000309017.3:c.852C>A	p.Phe284Leu	p.F284L	ENST00000309017	NM_001199797.1	284	ttC/ttA	0	1		UPI000013296B	0	getma.org/pdb.php?prot=PTN7_HUMAN&from=119&to=349&var=F179L	ENST00000495688		ENSG00000143851	9659		31	3.38		HGNC	p.F284L		PTPN7		SNV							ENST00000309017	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,202123383,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF39,SMART_domains:SM00194,Superfamily_domains:SSF52799		F/L		T	medium	639/2689		getma.org/?cm=msa&ty=f&p=PTN7_HUMAN&rb=119&re=349&var=F179L	deleterious(0.02)	E9PE54_HUMAN,E7EUM0_HUMAN,C9JBA9_HUMAN,B4DX06_HUMAN,B4DDG6_HUMAN				PTPN7,missense_variant,p.Phe284Leu,ENST00000309017,NM_001199797.1,NM_002832.3;PTPN7,missense_variant,p.Phe218Leu,ENST00000367279,NM_080588.2;PTPN7,missense_variant,p.Phe179Leu,ENST00000308986,;PTPN7,missense_variant,p.Phe260Leu,ENST00000477554,;PTPN7,missense_variant,p.Phe8Leu,ENST00000543735,;PTPN7,missense_variant,p.Phe111Leu,ENST00000477625,;PTPN7,missense_variant,p.Phe178Leu,ENST00000476061,;PTPN7,intron_variant,,ENST00000544762,;PTPN7,downstream_gene_variant,,ENST00000467283,;PTPN7,downstream_gene_variant,,ENST00000435759,;PTPN7,downstream_gene_variant,,ENST00000492451,;PTPN7,downstream_gene_variant,,ENST00000486116,;PTPN7,downstream_gene_variant,,ENST00000464870,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,non_coding_transcript_exon_variant,,ENST00000479092,;PTPN7,missense_variant,p.Phe179Leu,ENST00000495688,;PTPN7,3_prime_UTR_variant,,ENST00000496197,;PTPN7,3_prime_UTR_variant,,ENST00000480836,;PTPN7,intron_variant,,ENST00000462815,;PTPN7,downstream_gene_variant,,ENST00000468385,;PTPN7,downstream_gene_variant,,ENST00000491584,;							MODERATE	537/1083	F179L	PTN7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000420506					1	
LIMK2	0	LGGM	GRCh37	22	31673056	31673056	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	25	5	.	.	ENST00000340552.4:c.1991A>T	p.Glu664Val	p.E664V	ENST00000340552	NM_001031801.1	664	gAg/gTg	0	1		UPI00000534BD	0	getma.org/pdb.php?prot=B5MC51_HUMAN&from=519&to=629&var=E607V	ENST00000331728		ENSG00000182541	6614		30	2.82		HGNC	p.E664V		LIMK2		SNV							ENST00000340552	protein_coding	getma.org/?cm=var&var=hg19,22,31673056,A,T&fts=all						T	medium	-/3670		getma.org/?cm=msa&ty=f&p=B5MC51_HUMAN&rb=519&re=629&var=E607V		B4DYR0_HUMAN,B4DR56_HUMAN				LIMK2,missense_variant,p.Glu664Val,ENST00000340552,NM_001031801.1;LIMK2,missense_variant,p.Glu607Val,ENST00000406516,;LIMK2,intron_variant,,ENST00000331728,NM_005569.3;LIMK2,intron_variant,,ENST00000333611,NM_016733.2;LIMK2,intron_variant,,ENST00000444929,;PIK3IP1,downstream_gene_variant,,ENST00000215912,NM_052880.4;PIK3IP1,downstream_gene_variant,,ENST00000441972,NM_001135911.1;LIMK2,intron_variant,,ENST00000467301,;PIK3IP1,downstream_gene_variant,,ENST00000480654,;PIK3IP1,downstream_gene_variant,,ENST00000493034,;LIMK2,downstream_gene_variant,,ENST00000482270,;							MODIFIER	-/1917	E607V	LIMK2_HUMAN			Transcript			.	ENSP00000332687		CCDS13891.1			1	
POTEG	0	LGGM	GRCh37	14	19553734	19553734	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	88	6	.	.	ENST00000409832.3:c.318C>T	p.Phe106=	p.F106=	ENST00000409832	NM_001005356.2	106	ttC/ttT	0	1		UPI00015DFD28	0		ENST00000547889		ENSG00000222036	33896		94			HGNC	p.F106F	rs746550954,COSM3494331	POTEG		SNV						0,1	ENST00000552966	nonsense_mediated_decay			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		F		T		370/1975	1.51E-05							POTEG,synonymous_variant,p.=,ENST00000409832,NM_001005356.2;POTEG,synonymous_variant,p.=,ENST00000552966,;POTEG,synonymous_variant,p.=,ENST00000547889,;					0,1		LOW	318/1461		POTEG_HUMAN			Transcript			.	ENSP00000448062	8.24E-06				1	
TRPM6	0	LGGM	GRCh37	9	77339612	77339612	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	53	6	.	.	ENST00000360774.1:c.5986C>A	p.Leu1996Ile	p.L1996I	ENST00000360774	NM_017662.4	1996	Ctt/Att	0	1	1	UPI000006E041	0	NA	ENST00000360774		ENSG00000119121	17995		59	1.79		HGNC	p.L951I		TRPM6		SNV			1				ENST00000376872	protein_coding	getma.org/?cm=var&var=hg19,9,77339612,G,T&fts=all		hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800		L/I		T	low	6224/8425		getma.org/?cm=msa&ty=f&p=TRPM6_HUMAN&rb=1973&re=2022&var=L1996I	tolerated_low_confidence(0.19)				YES	TRPM6,missense_variant,p.Leu2000Ile,ENST00000451710,;TRPM6,missense_variant,p.Leu1996Ile,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Leu1991Ile,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Leu1991Ile,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Leu951Ile,ENST00000376872,;TRPM6,missense_variant,p.Leu833Ile,ENST00000376871,;							MODERATE	5986/6069	L1996I	TRPM6_HUMAN			Transcript		benign(0.009)	.	ENSP00000354006		CCDS6647.1			1	
WDR36	0	LGGM	GRCh37	5	110434420	110434420	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	36	6	.	.	ENST00000506538.2:c.460A>T	p.Ile154Leu	p.I154L	ENST00000506538	NM_139281.2	154	Ata/Tta	0	1	1	UPI000007018C	0	NA	ENST00000506538		ENSG00000134987	30696		42	0		HGNC	p.I98L		WDR36		SNV			1				ENST00000505303	protein_coding	getma.org/?cm=var&var=hg19,5,110434420,A,T&fts=all		hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		I/L		T	neutral	1033/7048		getma.org/?cm=msa&ty=f&p=WDR36_HUMAN&rb=1&re=200&var=I154L	tolerated(0.99)	D6RFM8_HUMAN			YES	WDR36,missense_variant,p.Ile154Leu,ENST00000506538,NM_139281.2;WDR36,missense_variant,p.Ile154Leu,ENST00000513710,;WDR36,missense_variant,p.Ile98Leu,ENST00000505303,;WDR36,missense_variant,p.Ile25Leu,ENST00000504122,;WDR36,downstream_gene_variant,,ENST00000515784,;							MODERATE	460/2856	I154L	WDR36_HUMAN			Transcript		benign(0.003)	.	ENSP00000423067		CCDS4102.1			1	
AP2A2	0	LGGM	GRCh37	11	993936	993936	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	10	7	.	.	ENST00000448903.2:c.1733G>T	p.Arg578Leu	p.R578L	ENST00000448903	NM_012305.3	578	cGt/cTt	0	1	1	UPI0000124FF5	0	getma.org/pdb.php?prot=AP2A2_HUMAN&from=29&to=590&var=R578L	ENST00000448903		ENSG00000183020	562		17	3.69		HGNC	p.R579L		AP2A2		SNV							ENST00000332231	protein_coding	getma.org/?cm=var&var=hg19,11,993936,G,T&fts=all		hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371		R/L		T	high	1874/4575		getma.org/?cm=msa&ty=f&p=AP2A2_HUMAN&rb=29&re=590&var=R578L	deleterious(0)	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN			YES	AP2A2,missense_variant,p.Arg578Leu,ENST00000448903,NM_012305.3,NM_001242837.1;AP2A2,missense_variant,p.Arg579Leu,ENST00000332231,;AP2A2,intron_variant,,ENST00000534328,;AP2A2,non_coding_transcript_exon_variant,,ENST00000528195,;AP2A2,upstream_gene_variant,,ENST00000525891,;AP2A2,missense_variant,p.Arg579Leu,ENST00000528815,;							MODERATE	1733/2820	R578L	AP2A2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000413234		CCDS44512.1			1	
GTF3C5	0	LGGM	GRCh37	9	135930154	135930154	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	5	7	.	.	ENST00000372108.5:c.1125G>T	p.Thr375=	p.T375=	ENST00000372108	NM_001122823.1	375	acG/acT	0	1		UPI000003603F	0		ENST00000372097		ENSG00000148308	4668		12			HGNC	p.T375T		GTF3C5		SNV							ENST00000372097	protein_coding			hmmpanther:PTHR13230		T		T		1448/2404				Q5T7U0_HUMAN				GTF3C5,synonymous_variant,p.=,ENST00000372097,NM_012087.3;GTF3C5,synonymous_variant,p.=,ENST00000372108,NM_001122823.1;GTF3C5,synonymous_variant,p.=,ENST00000372099,;GTF3C5,synonymous_variant,p.=,ENST00000342018,;GTF3C5,synonymous_variant,p.=,ENST00000372095,;GTF3C5,synonymous_variant,p.=,ENST00000435745,;GTF3C5,downstream_gene_variant,,ENST00000440319,;GTF3C5,downstream_gene_variant,,ENST00000439697,;GTF3C5,non_coding_transcript_exon_variant,,ENST00000461871,;GTF3C5,upstream_gene_variant,,ENST00000489842,;							LOW	1125/1560		TF3C5_HUMAN			Transcript			.	ENSP00000361169		CCDS6958.1			1	
TGFB2	0	LGGM	GRCh37	1	218607502	218607502	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	144	7	.	.	ENST00000366929.4:c.673G>A	p.Glu225Lys	p.E225K	ENST00000366929	NM_001135599.2	225	Gaa/Aaa	0	1		UPI000002BEF5	0	getma.org/pdb.php?prot=TGFB2_HUMAN&from=9&to=281&var=E197K	ENST00000366930		ENSG00000092969	11768		151	1.09		HGNC	p.E225K	rs764028978	TGFB2		SNV			1				ENST00000366929	protein_coding	getma.org/?cm=var&var=hg19,1,218607502,G,A&fts=all		PIRSF_domain:PIRSF001787,Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141		E/K		A	low	1056/4969	1.50E-05	getma.org/?cm=msa&ty=f&p=TGFB2_HUMAN&rb=9&re=281&var=E197K	deleterious(0.01)					TGFB2,missense_variant,p.Glu225Lys,ENST00000366929,NM_001135599.2;TGFB2,missense_variant,p.Glu197Lys,ENST00000366930,NM_003238.3;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;TGFB2,non_coding_transcript_exon_variant,,ENST00000488793,;							MODERATE	589/1245	E197K	TGFB2_HUMAN			Transcript		possibly_damaging(0.713)	.	ENSP00000355897	8.24E-06	CCDS1521.1			1	
DNAH9	0	LGGM	GRCh37	17	11593283	11593283	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	1	7	.	.	ENST00000262442.4:c.4144C>A	p.Arg1382=	p.R1382=	ENST00000262442	NM_001372.3	1382	Cgg/Agg	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		8			HGNC	p.R1382R	COSM1743193	DNAH9		SNV						1	ENST00000262442	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08393		R		A		4212/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;					1		LOW	4144/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
PER3	0	LGGM	GRCh37	1	7889973	7890026	+	inframe_deletion	In_Frame_Del	DEL	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	-	novel	by Submitter	H050313	H050313N.bam	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	38	12	.	.	ENST00000361923.2:c.3019_3072del	p.Ala1007_Ser1024del	p.A1007_S1024del	ENST00000361923	NM_016831.1	980	gAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAag/gag	0	1	1	UPI0000167B1D	0		ENST00000361923		ENSG00000049246	8847		50			HGNC	p.980_998del	TMP_ESP_1_7889973_7890026	PER3		deletion	-:0.1317						ENST00000361923	protein_coding			Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		ENPSHPTASALSTGSPPMK/E	-:0.1768	-		3114-3167/6203				Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,inframe_deletion,p.Ala1016_Ser1033del,ENST00000377532,;PER3,inframe_deletion,p.Ala1007_Ser1024del,ENST00000361923,NM_016831.1;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;							MODERATE	2939-2992/3606		PER3_HUMAN			Transcript	80		.	ENSP00000355031		CCDS89.1			1	
DOCK2	0	LGGM	GRCh37	5	169503089	169503089	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	10	8	.	.	ENST00000256935.8:c.4866+1G>T		p.X1622_splice	ENST00000256935	NM_004946.2			0	1	1	UPI00001A38CC	0		ENST00000256935		ENSG00000134516	2988		18			HGNC	-		DOCK2		SNV							ENST00000256935	protein_coding							T		-/6097				Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,splice_donor_variant,,ENST00000256935,NM_004946.2;DOCK2,splice_donor_variant,,ENST00000520908,;DOCK2,splice_donor_variant,,ENST00000540750,;DOCK2,splice_donor_variant,,ENST00000523351,;DOCK2,splice_donor_variant,,ENST00000524185,;DOCK2,splice_donor_variant,,ENST00000519868,;DOCK2,splice_donor_variant,,ENST00000520450,;							HIGH	4866/5493		DOCK2_HUMAN			Transcript			.	ENSP00000256935		CCDS4371.1			1	
SUN2	0	LGGM	GRCh37	22	39146242	39146242	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	34	8	.	.	ENST00000405018.1:c.571G>A	p.Ala191Thr	p.A191T	ENST00000405018	NM_001199579.1	191	Gcc/Acc	0	1		UPI0000137937	0	NA	ENST00000405510		ENSG00000100242	14210		42	0		HGNC	p.A170T		SUN2		SNV							ENST00000216064	protein_coding	getma.org/?cm=var&var=hg19,22,39146242,C,T&fts=all		hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911		A/T		T	neutral	867/4055		getma.org/?cm=msa&ty=f&p=SUN2_HUMAN&rb=1&re=516&var=A170T	tolerated(0.07)	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN,B0QY64_HUMAN				SUN2,missense_variant,p.Ala170Thr,ENST00000405510,NM_001199580.1;SUN2,missense_variant,p.Ala191Thr,ENST00000405018,NM_001199579.1;SUN2,missense_variant,p.Ala170Thr,ENST00000216064,NM_015374.2;SUN2,missense_variant,p.Ala170Thr,ENST00000406622,;SUN2,missense_variant,p.Ala159Thr,ENST00000411587,;SUN2,missense_variant,p.Ala124Thr,ENST00000438058,;SUN2,missense_variant,p.Ala170Thr,ENST00000456894,;SUN2,missense_variant,p.Ala124Thr,ENST00000420859,;SUN2,missense_variant,p.Ala27Thr,ENST00000430185,;SUN2,downstream_gene_variant,,ENST00000452294,;SUN2,downstream_gene_variant,,ENST00000439339,;SUN2,downstream_gene_variant,,ENST00000417332,;SUN2,downstream_gene_variant,,ENST00000433561,;RP3-508I15.14,downstream_gene_variant,,ENST00000416406,;SUN2,non_coding_transcript_exon_variant,,ENST00000480307,;SUN2,downstream_gene_variant,,ENST00000494273,;							MODERATE	508/2154	A170T	SUN2_HUMAN			Transcript		benign(0.044)	.	ENSP00000385740		CCDS13978.1			1	
SMG7	0	LGGM	GRCh37	1	183498535	183498535	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	73	8	.	.	ENST00000507469.1:c.710G>T	p.Arg237Leu	p.R237L	ENST00000507469	NM_201569.2	237	cGa/cTa	0	1		UPI0000203D1B	0	getma.org/pdb.php?prot=SMG7_HUMAN&from=171&to=431&var=R237L	ENST00000347615		ENSG00000116698	16792		81	1.5		HGNC	p.R266L		SMG7		SNV							ENST00000367537	protein_coding	getma.org/?cm=var&var=hg19,1,183498535,G,T&fts=all		Pfam_domain:PF10373,hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF0,Superfamily_domains:SSF48452		R/L		T	low	829/5788		getma.org/?cm=msa&ty=f&p=SMG7_HUMAN&rb=171&re=431&var=R237L	deleterious(0.01)	Q6TV06_HUMAN				SMG7,missense_variant,p.Arg266Leu,ENST00000367537,;SMG7,missense_variant,p.Arg237Leu,ENST00000347615,NM_173156.2;SMG7,missense_variant,p.Arg237Leu,ENST00000515829,NM_201568.2;SMG7,missense_variant,p.Arg237Leu,ENST00000507469,NM_201569.2;SMG7,missense_variant,p.Arg195Leu,ENST00000508461,NM_001174061.1;SMG7,missense_variant,p.Arg195Leu,ENST00000456731,;SMG7,missense_variant,p.Arg195Leu,ENST00000419169,;SMG7,downstream_gene_variant,,ENST00000507691,;SMG7,splice_region_variant,,ENST00000507406,;SMG7,downstream_gene_variant,,ENST00000440812,;SMG7,downstream_gene_variant,,ENST00000444547,;							MODERATE	710/3414	R237L	SMG7_HUMAN			Transcript		possibly_damaging(0.619)	.	ENSP00000340766		CCDS1355.1			1	
ERICH1	0	LGGM	GRCh37	8	642529	642529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	26	8	.	.	ENST00000262109.7:c.253C>T	p.Pro85Ser	p.P85S	ENST00000262109	NM_207332.1	85	Ccc/Tcc	0	1	1	UPI000000DB6B	0	NA	ENST00000262109		ENSG00000104714	27234		34	1.06		HGNC	p.P85S		ERICH1		SNV							ENST00000262109	protein_coding	getma.org/?cm=var&var=hg19,8,642529,G,A&fts=all		hmmpanther:PTHR22444,hmmpanther:PTHR22444:SF1		P/S		A	low	331/1813		getma.org/?cm=msa&ty=f&p=ERIC1_HUMAN&rb=1&re=200&var=P85S	tolerated(0.15)				YES	ERICH1,missense_variant,p.Pro85Ser,ENST00000262109,NM_207332.1;ERICH1,intron_variant,,ENST00000522706,;ERICH1,non_coding_transcript_exon_variant,,ENST00000518277,;ERICH1,non_coding_transcript_exon_variant,,ENST00000524138,;							MODERATE	253/1332	P85S	ERIC1_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000262109		CCDS5955.1			1	
TP53	0	LGGM	GRCh37	17	7577094	7577094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	3	8	.	.	ENST00000269305.4:c.844C>T	p.Arg282Trp	p.R282W	ENST00000269305	NM_001126112.2	282	Cgg/Tgg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R282W	ENST00000269305	likely_benign,pathogenic	ENSG00000141510	11998		11	3.075		HGNC	p.R282W	rs28934574,TP53_g.13824C>T,COSM10704,COSM99925,COSM3378339,COSM1636702	TP53		SNV			1			1,0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577094,G,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/W		A	medium	1034/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R282W	deleterious(0)	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			YES	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,;					0,0,1,1,1,1		MODERATE	844/1182	R282W	P53_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000269305		CCDS11118.1			1	251,056,602,540,450,000,000,000
RIPK4	0	LGGM	GRCh37	21	43161979	43161979	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	33	9	.	.	ENST00000332512.3:c.1374G>A	p.Leu458=	p.L458=	ENST00000332512	NM_020639.2	458	ctG/ctA	0	1		UPI0000125B50	0		ENST00000352483		ENSG00000183421	496		42			HGNC	p.L395L		RIPK4		SNV			1				ENST00000542057	protein_coding			Low_complexity_(Seg):seg,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		L		T		1583/4017								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,;							LOW	1518/2499		RIPK4_HUMAN			Transcript			.	ENSP00000330161					1	
MAPK7	0	LGGM	GRCh37	17	19285614	19285614	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	37	9	.	.	ENST00000308406.5:c.1998C>G	p.Ala666=	p.A666=	ENST00000308406	NM_139033.2	666	gcC/gcG	0	1	1	UPI000006FED0	0		ENST00000308406		ENSG00000166484	6880		46			HGNC	p.A666A		MAPK7		SNV							ENST00000395602	protein_coding					A		G		2384/3149				J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN			YES	MAPK7,synonymous_variant,p.=,ENST00000308406,NM_139033.2;MAPK7,synonymous_variant,p.=,ENST00000395604,NM_002749.3;MAPK7,synonymous_variant,p.=,ENST00000395602,NM_139034.2;MAPK7,synonymous_variant,p.=,ENST00000299612,NM_139032.2;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,,ENST00000482850,;MAPK7,downstream_gene_variant,,ENST00000579284,;MAPK7,downstream_gene_variant,,ENST00000603493,;B9D1,upstream_gene_variant,,ENST00000487415,;MAPK7,intron_variant,,ENST00000571657,;MFAP4,downstream_gene_variant,,ENST00000574313,;MAPK7,downstream_gene_variant,,ENST00000572968,;MAPK7,downstream_gene_variant,,ENST00000573417,;B9D1,upstream_gene_variant,,ENST00000468679,;MAPK7,non_coding_transcript_exon_variant,,ENST00000570306,;MAPK7,non_coding_transcript_exon_variant,,ENST00000490660,;MFAP4,downstream_gene_variant,,ENST00000571210,;B9D1,upstream_gene_variant,,ENST00000476298,;MAPK7,downstream_gene_variant,,ENST00000572716,;MAPK7,downstream_gene_variant,,ENST00000581260,;MAPK7,downstream_gene_variant,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000486905,;MAPK7,downstream_gene_variant,,ENST00000572853,;							LOW	1998/2451		MK07_HUMAN			Transcript			.	ENSP00000311005		CCDS11206.1			1	
MC4R	0	LGGM	GRCh37	18	58038657	58038657	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	52	9	.	.	ENST00000299766.3:c.926T>G	p.Leu309Arg	p.L309R	ENST00000299766	NM_005912.2	309	cTg/cGg	0	1	1	UPI000013E5E3	0	NA	ENST00000299766		ENSG00000166603	6932		61	1.15		HGNC	p.L309R		MC4R		SNV			1				ENST00000299766	protein_coding	getma.org/?cm=var&var=hg19,18,58038657,A,C&fts=all		hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00534		L/R		C	low	1345/1438		getma.org/?cm=msa&ty=f&p=MC4R_HUMAN&rb=303&re=332&var=L309R	deleterious(0)	K4N7A9_HUMAN,A0N0W8_HUMAN			YES	MC4R,missense_variant,p.Leu309Arg,ENST00000299766,NM_005912.2;							MODERATE	926/999	L309R	MC4R_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000299766		CCDS11976.1			1	
MAP1A	0	LGGM	GRCh37	15	43821265	43821265	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	61	9	.	.	ENST00000300231.5:c.7594G>A	p.Asp2532Asn	p.D2532N	ENST00000300231		2532	Gac/Aac	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		70	1.995		HGNC	p.D2532N		MAP1A		SNV							ENST00000399453	protein_coding	getma.org/?cm=var&var=hg19,15,43821265,G,A&fts=all		hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		D/N		A	medium	8044/10258		getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=2491&re=2690&var=D2532N					YES	MAP1A,missense_variant,p.Asp2770Asn,ENST00000382031,;MAP1A,missense_variant,p.Asp2532Asn,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Asp2532Asn,ENST00000300231,;PPIP5K1,downstream_gene_variant,,ENST00000420765,NM_001130858.2;PPIP5K1,downstream_gene_variant,,ENST00000396923,;PPIP5K1,downstream_gene_variant,,ENST00000381885,;PPIP5K1,downstream_gene_variant,,ENST00000334933,NM_001130859.2;PPIP5K1,downstream_gene_variant,,ENST00000360301,NM_014659.5;PPIP5K1,downstream_gene_variant,,ENST00000360135,NM_001190214.1;PPIP5K1,downstream_gene_variant,,ENST00000381879,;PPIP5K1,downstream_gene_variant,,ENST00000348806,;							MODERATE	7594/8412	D2532N	MAP1A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000300231		CCDS42031.1			1	
DNAH10	0	LGGM	GRCh37	12	124274530	124274530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	72	10	.	.	ENST00000409039.3:c.1494C>A	p.Asp498Glu	p.D498E	ENST00000409039	NM_207437.3	498	gaC/gaA	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		82	2.095		HGNC	p.D498E		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124274530,C,A&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		D/E		A	medium	1519/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=241&re=544&var=D498E					YES	DNAH10,missense_variant,p.Asp498Glu,ENST00000409039,NM_207437.3;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;							MODERATE	1494/13416	D498E	DYH10_HUMAN			Transcript		possibly_damaging(0.718)	.	ENSP00000386770		CCDS9255.2			1	
CCDC116	0	LGGM	GRCh37	22	21991140	21991140	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	22	10	.	.	ENST00000292779.3:c.1623G>T	p.Glu541Asp	p.E541D	ENST00000292779	NM_152612.2	541	gaG/gaT	0	1	1	UPI00000741C9	0		ENST00000292779		ENSG00000161180	26688		32			HGNC	p.E541D		CCDC116		SNV							ENST00000292779	protein_coding					E/D		T		1784/2260			deleterious(0.02)				YES	CCDC116,missense_variant,p.Glu541Asp,ENST00000292779,NM_152612.2;CCDC116,downstream_gene_variant,,ENST00000607942,;CCDC116,downstream_gene_variant,,ENST00000425975,;KB-1440D3.14,upstream_gene_variant,,ENST00000609038,;							MODERATE	1623/1842		CC116_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000292779		CCDS13791.1			1	
PPP4R2	0	LGGM	GRCh37	3	73108232	73108232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	29	10	.	.	ENST00000356692.5:c.332C>T	p.Pro111Leu	p.P111L	ENST00000356692		111	cCa/cTa	0	1	1	UPI000006F837	0	NA	ENST00000356692		ENSG00000163605	18296		39	3.045		HGNC	p.P54L		PPP4R2		SNV							ENST00000394284	protein_coding	getma.org/?cm=var&var=hg19,3,73108232,C,T&fts=all		Pfam_domain:PF09184,hmmpanther:PTHR16487,hmmpanther:PTHR16487:SF0		P/L		T	medium	585/4984		getma.org/?cm=msa&ty=f&p=PP4R2_HUMAN&rb=2&re=267&var=P111L	deleterious(0)	F8WDK3_HUMAN			YES	PPP4R2,missense_variant,p.Pro111Leu,ENST00000356692,;PPP4R2,missense_variant,p.Pro55Leu,ENST00000295862,NM_174907.2;PPP4R2,missense_variant,p.Pro54Leu,ENST00000394284,;PPP4R2,missense_variant,p.Pro111Leu,ENST00000488810,;EBLN2,upstream_gene_variant,,ENST00000533473,NM_018029.3;PPP4R2,upstream_gene_variant,,ENST00000460360,;PPP4R2,downstream_gene_variant,,ENST00000476505,;PPP4R2,missense_variant,p.Pro54Leu,ENST00000482242,;PPP4R2,non_coding_transcript_exon_variant,,ENST00000470976,;							MODERATE	332/1254	P111L	PP4R2_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000349124		CCDS2917.1			1	
ZNF541	0	LGGM	GRCh37	19	48047619	48047619	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	10	10	.	.	ENST00000314121.4:c.2167G>C	p.Gly723Arg	p.G723R	ENST00000314121		723	Ggc/Cgc	0	1		UPI0000E5A21D	0	NA	ENST00000391901		ENSG00000118156	25294		20	1.04		HGNC	p.G723R		ZNF541		SNV							ENST00000314121	protein_coding	getma.org/?cm=var&var=hg19,19,48047619,C,G&fts=all		hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23		G/R		G	low	2167/4580		getma.org/?cm=msa&ty=f&p=ZN541_HUMAN&rb=371&re=1000&var=G723R	deleterious(0.04)					ZNF541,missense_variant,p.Gly723Arg,ENST00000314121,;ZNF541,missense_variant,p.Gly723Arg,ENST00000391901,NM_001277075.1;ZNF541,missense_variant,p.Gly723Arg,ENST00000448976,;ZNF541,missense_variant,p.Gly301Arg,ENST00000595558,;ZNF541,missense_variant,p.Gly314Arg,ENST00000263351,;ZNF541,upstream_gene_variant,,ENST00000487275,;							MODERATE	2167/4041	G723R	ZN541_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000375770		CCDS46133.2			1	
THEG	0	LGGM	GRCh37	19	367181	367181	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	21	10	.	.	ENST00000342640.4:c.797C>T	p.Ser266Leu	p.S266L	ENST00000342640	NM_016585.4	266	tCg/tTg	0	1	1	UPI000006E5C6	0	NA	ENST00000342640		ENSG00000105549	13706		31	1.355		HGNC	p.S242L	rs764601966	THEG		SNV				0.000192			ENST00000346878	protein_coding	getma.org/?cm=var&var=hg19,19,367181,G,A&fts=all		hmmpanther:PTHR15901,hmmpanther:PTHR15901:SF13,Pfam_domain:PF14912,SMART_domains:SM00705		S/L		A	low	840/1326		getma.org/?cm=msa&ty=f&p=THEG_HUMAN&rb=44&re=351&var=S266L	tolerated(0.06)				YES	THEG,missense_variant,p.Ser266Leu,ENST00000342640,NM_016585.4;THEG,missense_variant,p.Arg123Cys,ENST00000530711,;THEG,missense_variant,p.Ser242Leu,ENST00000346878,NM_199202.2;THEG,downstream_gene_variant,,ENST00000528213,;							MODERATE	797/1140	S266L	THEG_HUMAN			Transcript		benign(0.009)	.	ENSP00000340088	1.65E-05	CCDS12025.1			1	
PACSIN3	0	LGGM	GRCh37	11	47201799	47201799	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	23	10	.	.	ENST00000539589.1:c.541T>A	p.Ser181Thr	p.S181T	ENST00000539589	NM_001184975.1	181	Tcc/Acc	0	1		UPI0000034CB1	0	getma.org/pdb.php?prot=PACN3_HUMAN&from=103&to=302&var=S181T	ENST00000298838		ENSG00000165912	8572		33	0.855		HGNC	p.S181T		PACSIN3		SNV							ENST00000539589	protein_coding	getma.org/?cm=var&var=hg19,11,47201799,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10959,hmmpanther:PTHR10959:SF1,Superfamily_domains:SSF103657		S/T		T	low	703/1843		getma.org/?cm=msa&ty=f&p=PACN3_HUMAN&rb=103&re=302&var=S181T	tolerated(0.51)	E9PQ12_HUMAN,E9PNM9_HUMAN,E9PJ75_HUMAN,E9PJ33_HUMAN,E9PIZ6_HUMAN				PACSIN3,missense_variant,p.Ser181Thr,ENST00000539589,NM_001184975.1;PACSIN3,missense_variant,p.Ser181Thr,ENST00000298838,NM_016223.4,NM_001184974.1;PACSIN3,missense_variant,p.Ser181Thr,ENST00000528462,;PACSIN3,5_prime_UTR_variant,,ENST00000530513,;PACSIN3,5_prime_UTR_variant,,ENST00000528201,;ARFGAP2,upstream_gene_variant,,ENST00000524782,NM_032389.4,NM_001242832.1;ARFGAP2,upstream_gene_variant,,ENST00000426335,;ARFGAP2,upstream_gene_variant,,ENST00000419701,;ARFGAP2,upstream_gene_variant,,ENST00000319543,;ARFGAP2,upstream_gene_variant,,ENST00000525398,;ARFGAP2,upstream_gene_variant,,ENST00000527927,;ARFGAP2,upstream_gene_variant,,ENST00000525314,;ARFGAP2,upstream_gene_variant,,ENST00000528444,;PACSIN3,downstream_gene_variant,,ENST00000525725,;PACSIN3,downstream_gene_variant,,ENST00000531226,;PACSIN3,downstream_gene_variant,,ENST00000530405,;PACSIN3,downstream_gene_variant,,ENST00000524509,;ARFGAP2,upstream_gene_variant,,ENST00000530596,;ARFGAP2,upstream_gene_variant,,ENST00000526342,;PACSIN3,upstream_gene_variant,,ENST00000533686,;ARFGAP2,upstream_gene_variant,,ENST00000395449,;ARFGAP2,upstream_gene_variant,,ENST00000531750,;ARFGAP2,upstream_gene_variant,,ENST00000533939,;ARFGAP2,upstream_gene_variant,,ENST00000529599,;PACSIN3,missense_variant,p.Ser181Thr,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000526185,;ARFGAP2,upstream_gene_variant,,ENST00000533243,;ARFGAP2,upstream_gene_variant,,ENST00000524727,;ARFGAP2,upstream_gene_variant,,ENST00000527097,;ARFGAP2,upstream_gene_variant,,ENST00000532478,;ARFGAP2,upstream_gene_variant,,ENST00000529455,;ARFGAP2,upstream_gene_variant,,ENST00000532438,;ARFGAP2,upstream_gene_variant,,ENST00000528041,;ARFGAP2,upstream_gene_variant,,ENST00000529439,;ARFGAP2,upstream_gene_variant,,ENST00000528708,;ARFGAP2,upstream_gene_variant,,ENST00000524586,;ARFGAP2,upstream_gene_variant,,ENST00000528072,;ARFGAP2,upstream_gene_variant,,ENST00000530794,;							MODERATE	541/1275	S181T	PACN3_HUMAN			Transcript		benign(0.007)	.	ENSP00000298838		CCDS31481.1			1	
TERF1	0	LGGM	GRCh37	8	73921366	73921366	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	22	11	.	.	ENST00000276603.5:c.245T>G	p.Leu82Arg	p.L82R	ENST00000276603	NM_017489.2	82	cTc/cGc	0	1	1	UPI000013DAD5	0	getma.org/pdb.php?prot=TERF1_HUMAN&from=74&to=271&var=L82R	ENST00000276603		ENSG00000147601	11728		33	1.5		HGNC	p.L82R		TERF1		SNV							ENST00000276602	protein_coding	getma.org/?cm=var&var=hg19,8,73921366,T,G&fts=all		hmmpanther:PTHR21717,hmmpanther:PTHR21717:SF14,Gene3D:1.25.40.210,Pfam_domain:PF08558,PIRSF_domain:PIRSF038016,Superfamily_domains:SSF63600		L/R		G	low	268/1677		getma.org/?cm=msa&ty=f&p=TERF1_HUMAN&rb=74&re=271&var=L82R	deleterious(0.01)				YES	TERF1,missense_variant,p.Leu82Arg,ENST00000276602,NM_003218.3;TERF1,missense_variant,p.Leu82Arg,ENST00000276603,NM_017489.2;TERF1,missense_variant,p.Leu82Arg,ENST00000518874,;TERF1,upstream_gene_variant,,ENST00000517390,;TERF1,non_coding_transcript_exon_variant,,ENST00000518695,;							MODERATE	245/1320	L82R	TERF1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000276603		CCDS6211.1			1	
PYHIN1	0	LGGM	GRCh37	1	158913724	158913724	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	38	11	.	.	ENST00000368140.1:c.1147G>A	p.Glu383Lys	p.E383K	ENST00000368140	NM_152501.4	383	Gaa/Aaa	0	1	1	UPI0000225618	0	getma.org/pdb.php?prot=IFIX_HUMAN&from=199&to=399&var=E383K	ENST00000368140		ENSG00000163564	28894		49	0		HGNC	p.E374K		PYHIN1		SNV							ENST00000392252	protein_coding	getma.org/?cm=var&var=hg19,1,158913724,G,A&fts=all		Gene3D:2.40.50.140,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14,Superfamily_domains:SSF159141		E/K		A	neutral	1392/2083		getma.org/?cm=msa&ty=f&p=IFIX_HUMAN&rb=199&re=399&var=E383K	tolerated(0.19)				YES	PYHIN1,missense_variant,p.Glu383Lys,ENST00000368140,NM_152501.4,NM_198928.4,NM_198929.4;PYHIN1,missense_variant,p.Glu374Lys,ENST00000368138,;PYHIN1,missense_variant,p.Glu383Lys,ENST00000392254,;PYHIN1,missense_variant,p.Glu374Lys,ENST00000392252,NM_198930.3;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,downstream_gene_variant,,ENST00000458222,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;							MODERATE	1147/1479	E383K	IFIX_HUMAN			Transcript		benign(0)	.	ENSP00000357122		CCDS1178.1			1	
LRP1B	0	LGGM	GRCh37	2	141457929	141457929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	78	11	.	.	ENST00000389484.3:c.6689A>T	p.Asp2230Val	p.D2230V	ENST00000389484	NM_018557.2	2230	gAc/gTc	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=2050&to=2249&var=D2230V	ENST00000389484		ENSG00000168702	6693		89	1.425		HGNC	p.D2230V		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141457929,T,A&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,Superfamily_domains:SSF63825		D/V		A	low	7661/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=2050&re=2249&var=D2230V		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			YES	LRP1B,missense_variant,p.Asp2230Val,ENST00000389484,NM_018557.2;							MODERATE	6689/13800	D2230V	LRP1B_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000374135		CCDS2182.1			1	
HACE1	0	LGGM	GRCh37	6	105297028	105297028	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	16	11	.	.	ENST00000262903.4:c.315A>G	p.Ala105=	p.A105=	ENST00000262903	NM_020771.3	105	gcA/gcG	0	1	1	UPI00001602DC	0		ENST00000262903		ENSG00000085382	21033		27			HGNC	p.A105A		HACE1		SNV			1				ENST00000262903	protein_coding			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR11254:SF278,hmmpanther:PTHR11254,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415		A		C		592/4576				E5RFX0_HUMAN,E3W983_HUMAN			YES	HACE1,synonymous_variant,p.=,ENST00000262903,NM_020771.3;HACE1,synonymous_variant,p.=,ENST00000369125,;HACE1,synonymous_variant,p.=,ENST00000519645,;HACE1,synonymous_variant,p.=,ENST00000524020,;RP11-809N15.2,upstream_gene_variant,,ENST00000422930,;HACE1,synonymous_variant,p.=,ENST00000416605,;HACE1,3_prime_UTR_variant,,ENST00000521962,;							LOW	315/2730		HACE1_HUMAN			Transcript			.	ENSP00000262903		CCDS5050.1			1	
ZNF91	0	LGGM	GRCh37	19	23542514	23542514	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	42	12	.	.	ENST00000300619.7:c.3267A>G	p.Gln1089=	p.Q1089=	ENST00000300619	NM_003430.2	1089	caA/caG	0	1	1	UPI00002038F9	0		ENST00000300619		ENSG00000167232	13166		54			HGNC	p.Q1057Q	rs375072097	ZNF91		SNV							ENST00000397082	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157		Q		C		3473/5489				M0R186_HUMAN			YES	ZNF91,synonymous_variant,p.=,ENST00000300619,NM_003430.2;ZNF91,synonymous_variant,p.=,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,;							LOW	3267/3576		ZNF91_HUMAN	0.000151		Transcript			.	ENSP00000300619	8.25E-06	CCDS42541.1			1	
JUN	0	LGGM	GRCh37	1	59247955	59247955	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	27	12	.	.	ENST00000371222.2:c.788G>T	p.Arg263Leu	p.R263L	ENST00000371222	NM_002228.3	263	cGc/cTc	0	1	1	UPI000000D908	0	getma.org/pdb.php?prot=JUN_HUMAN&from=250&to=313&var=R263L	ENST00000371222		ENSG00000177606	6204		39	3.885		HGNC	p.R263L		JUN		SNV							ENST00000371222	protein_coding	getma.org/?cm=var&var=hg19,1,59247955,C,A&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF8,PROSITE_patterns:PS00036,Pfam_domain:PF00170,Gene3D:1.10.880.10,SMART_domains:SM00338,Superfamily_domains:SSF47454,Prints_domain:PR00043		R/L		A	high	1831/3321		getma.org/?cm=msa&ty=f&p=JUN_HUMAN&rb=250&re=313&var=R263L	deleterious(0)				YES	JUN,missense_variant,p.Arg263Leu,ENST00000371222,NM_002228.3;LINC01135,upstream_gene_variant,,ENST00000419531,;LINC01135,upstream_gene_variant,,ENST00000544621,;							MODERATE	788/996	R263L	JUN_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000360266		CCDS610.1			1	
HRNR	0	LGGM	GRCh37	1	152193728	152193728	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	81	12	.	.	ENST00000368801.2:c.377C>A	p.Ser126Tyr	p.S126Y	ENST00000368801	NM_001009931.2	126	tCt/tAt	0	1	1	UPI00001D7CAD	0	NA	ENST00000368801		ENSG00000197915	20846		93	1.995		HGNC	p.S126Y		HRNR		SNV							ENST00000368801	protein_coding	getma.org/?cm=var&var=hg19,1,152193728,G,T&fts=all		hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571		S/Y		T	medium	453/9623		getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=48&re=160&var=S126Y		Q5W8V9_HUMAN			YES	HRNR,missense_variant,p.Ser126Tyr,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	377/8553	S126Y	HORN_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000357791		CCDS30859.1			1	
NEK11	0	LGGM	GRCh37	3	130873892	130873892	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	7	13	.	.	ENST00000383366.4:c.889A>G	p.Arg297Gly	p.R297G	ENST00000383366	NM_024800.4	297	Aga/Gga	0	1	1	UPI000013F25D	0	NA	ENST00000383366		ENSG00000114670	18593		20	1.61		HGNC	p.R297G		NEK11		SNV							ENST00000383366	protein_coding	getma.org/?cm=var&var=hg19,3,130873892,A,G&fts=all		hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362,Superfamily_domains:SSF56112		R/G		G	low	1182/2914		getma.org/?cm=msa&ty=f&p=NEK11_HUMAN&rb=288&re=487&var=R297G	deleterious(0.01)				YES	NEK11,missense_variant,p.Arg297Gly,ENST00000383366,NM_024800.4;NEK11,missense_variant,p.Arg297Gly,ENST00000429253,;NEK11,missense_variant,p.Arg297Gly,ENST00000510688,NM_001146003.1;NEK11,missense_variant,p.Arg149Gly,ENST00000412440,;NEK11,missense_variant,p.Arg297Gly,ENST00000511262,NM_145910.3;NEK11,missense_variant,p.Arg297Gly,ENST00000508196,;NEK11,missense_variant,p.Arg297Gly,ENST00000507910,;NEK11,missense_variant,p.Arg297Gly,ENST00000356918,;NEK11,intron_variant,,ENST00000510769,;NEK11,non_coding_transcript_exon_variant,,ENST00000510926,;NEK11,downstream_gene_variant,,ENST00000426022,;NEK11,3_prime_UTR_variant,,ENST00000514915,;NEK11,3_prime_UTR_variant,,ENST00000510474,;NEK11,non_coding_transcript_exon_variant,,ENST00000515636,;NEK11,downstream_gene_variant,,ENST00000602792,;							MODERATE	889/1938	R297G	NEK11_HUMAN			Transcript		benign(0.104)	.	ENSP00000372857		CCDS3069.1			1	
CEACAM18	0	LGGM	GRCh37	19	51986549	51986549	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	76	13	.	.	ENST00000451626.1:c.1135G>A	p.Glu379Lys	p.E379K	ENST00000451626		379	Gag/Aag	0	1		UPI0002C5E52C	0	NA	ENST00000396477		ENSG00000213822	31949		89	0.695		HGNC	p.E379K	rs753905771	CEACAM18		SNV							ENST00000451626	protein_coding	getma.org/?cm=var&var=hg19,19,51986549,G,A&fts=all		hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF6		E/K		A	neutral	973/1476	1.50E-05	getma.org/?cm=msa&ty=f&p=CEA18_HUMAN&rb=345&re=398&var=E379K	tolerated(0.17)					CEACAM18,missense_variant,p.Glu318Lys,ENST00000396477,NM_001278392.1;CEACAM18,missense_variant,p.Glu379Lys,ENST00000451626,;							MODERATE	952/1155	E379K	CEA18_HUMAN			Transcript		benign(0.014)	.	ENSP00000379738	8.26E-06				1	
ESRRA	0	LGGM	GRCh37	11	64083259	64083259	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	32	13	.	.	ENST00000405666.1:c.1093G>T	p.Gly365Cys	p.G365C	ENST00000405666	NM_001282450.1	365	Ggc/Tgc	0	1		UPI0000167B87	0	getma.org/pdb.php?prot=ERR1_HUMAN&from=223&to=414&var=G365C	ENST00000000442		ENSG00000173153	3471		45	0		HGNC	p.G365C		ESRRA		SNV							ENST00000405666	protein_coding	getma.org/?cm=var&var=hg19,11,64083259,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,PIRSF_domain:PIRSF500939,SMART_domains:SM00430,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508		G/C		T	neutral	1264/2215		getma.org/?cm=msa&ty=f&p=ERR1_HUMAN&rb=223&re=414&var=G365C	tolerated(0.09)	Q96I02_HUMAN,Q96F89_HUMAN,Q569H8_HUMAN,F5H0E9_HUMAN,F5GWT5_HUMAN				ESRRA,missense_variant,p.Gly365Cys,ENST00000405666,NM_001282450.1;ESRRA,missense_variant,p.Gly364Cys,ENST00000406310,NM_004451.3,NM_001282451.1;ESRRA,missense_variant,p.Gly365Cys,ENST00000000442,;ESRRA,missense_variant,p.Gly146Cys,ENST00000545035,;TRMT112,downstream_gene_variant,,ENST00000544844,;PRDX5,upstream_gene_variant,,ENST00000265462,NM_012094.4;TRMT112,downstream_gene_variant,,ENST00000535750,;ESRRA,downstream_gene_variant,,ENST00000539594,;TRMT112,downstream_gene_variant,,ENST00000535126,;TRMT112,downstream_gene_variant,,ENST00000539854,;PRDX5,upstream_gene_variant,,ENST00000352435,NM_181651.2;TRMT112,downstream_gene_variant,,ENST00000308774,NM_016404.1,NM_001286082.1;PRDX5,upstream_gene_variant,,ENST00000347941,NM_181652.2;ESRRA,non_coding_transcript_exon_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,;							MODERATE	1093/1272	G365C	ERR1_HUMAN			Transcript		benign(0.036)	.	ENSP00000000442		CCDS41667.1			1	
ARHGAP32	0	LGGM	GRCh37	11	128932213	128932213	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	48	13	.	.	ENST00000310343.9:c.883G>T	p.Val295Leu	p.V295L	ENST00000310343	NM_001142685.1	295	Gtg/Ttg	0	1	1	UPI000159C61F	0	getma.org/pdb.php?prot=RHG32_HUMAN&from=266&to=313&var=V295L	ENST00000310343		ENSG00000134909	17399		61	1.125		HGNC	p.V221L		ARHGAP32		SNV							ENST00000524655	protein_coding	getma.org/?cm=var&var=hg19,11,128932213,C,A&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9,Gene3D:2.30.30.40,Pfam_domain:PF14604,SMART_domains:SM00326,Superfamily_domains:SSF50044		V/L		A	low	883/10111		getma.org/?cm=msa&ty=f&p=RHG32_HUMAN&rb=266&re=313&var=V295L	deleterious(0.01)	I7H0B0_HUMAN			YES	ARHGAP32,missense_variant,p.Val295Leu,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Val221Leu,ENST00000524655,;ARHGAP32,downstream_gene_variant,,ENST00000525234,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000533509,;							MODERATE	883/6264	V295L	RHG32_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000310561		CCDS44769.1			1	
GSR	0	LGGM	GRCh37	8	30537169	30537169	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	14	13	.	.	ENST00000221130.5:c.1437G>A	p.Met479Ile	p.M479I	ENST00000221130	NM_000637.3	479	atG/atA	0	1	1	UPI000012BBFF	0	getma.org/pdb.php?prot=GSHR_HUMAN&from=411&to=522&var=M479I	ENST00000221130		ENSG00000104687	4623		27	0.22		HGNC	p.M426I	COSM422154	GSR		SNV			1			1	ENST00000541648	protein_coding	getma.org/?cm=var&var=hg19,8,30537169,C,T&fts=all		Gene3D:3.30.390.30,Pfam_domain:PF02852,Prints_domain:PR00411,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF106,Superfamily_domains:SSF55424,TIGRFAM_domain:TIGR01421		M/I		T	neutral	1528/3114		getma.org/?cm=msa&ty=f&p=GSHR_HUMAN&rb=411&re=522&var=M479I	tolerated(1)	E5RI06_HUMAN			YES	GSR,missense_variant,p.Met479Ile,ENST00000221130,NM_000637.3,NM_001195102.1,NM_001195103.1;GSR,missense_variant,p.Met436Ile,ENST00000414019,;GSR,missense_variant,p.Met450Ile,ENST00000546342,;GSR,missense_variant,p.Met426Ile,ENST00000541648,;GSR,missense_variant,p.Met397Ile,ENST00000537535,NM_001195104.1;GSR,downstream_gene_variant,,ENST00000523295,;					1		MODERATE	1437/1569	M479I	GSHR_HUMAN			Transcript		benign(0.279)	.	ENSP00000221130		CCDS34877.1			1	
B3GAT2	0	LGGM	GRCh37	6	71571421	71571421	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	26	14	.	.	ENST00000230053.6:c.917T>G	p.Val306Gly	p.V306G	ENST00000230053	NM_080742.2	306	gTt/gGt	0	1	1	UPI000012670C	0	getma.org/pdb.php?prot=B3GA2_HUMAN&from=306&to=323&var=V306G	ENST00000230053		ENSG00000112309	922		40	0.895		HGNC	p.V306G		B3GAT2		SNV							ENST00000230053	protein_coding	getma.org/?cm=var&var=hg19,6,71571421,A,C&fts=all		hmmpanther:PTHR10896:SF8,hmmpanther:PTHR10896,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		V/G		C	low	1526/6565		getma.org/?cm=msa&ty=f&p=B3GA2_HUMAN&rb=276&re=323&var=V306G	tolerated(0.1)	A8K1V3_HUMAN			YES	B3GAT2,missense_variant,p.Val306Gly,ENST00000230053,NM_080742.2;SMAP1,3_prime_UTR_variant,,ENST00000370455,NM_001281440.1,NM_001044305.2;SMAP1,downstream_gene_variant,,ENST00000370452,NM_001281439.1;SMAP1,downstream_gene_variant,,ENST00000316999,NM_021940.4;							MODERATE	917/972	V306G	B3GA2_HUMAN			Transcript		benign(0.129)	.	ENSP00000230053		CCDS4974.1			1	
FBXO11	0	LGGM	GRCh37	2	48035330	48035330	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	99	14	.	.	ENST00000403359.3:c.2711A>T	p.Glu904Val	p.E904V	ENST00000403359	NM_001190274.1	904	gAg/gTg	0	1	1	UPI00005793B7	0	NA	ENST00000403359		ENSG00000138081	13590		113	0.55		HGNC	p.E904V		FBXO11		SNV							ENST00000403359	protein_coding	getma.org/?cm=var&var=hg19,2,48035330,T,A&fts=all		PROSITE_profiles:PS51157,hmmpanther:PTHR22990:SF12,hmmpanther:PTHR22990		E/V		A	neutral	2784/4055		getma.org/?cm=msa&ty=f&p=FBX11_HUMAN&rb=874&re=927&var=E904V	tolerated_low_confidence(0.15)	E7EP88_HUMAN,C9IYF0_HUMAN,B5MCV6_HUMAN			YES	FBXO11,missense_variant,p.Glu904Val,ENST00000403359,NM_001190274.1;FBXO11,missense_variant,p.Glu820Val,ENST00000316377,;FBXO11,missense_variant,p.Glu820Val,ENST00000402508,NM_025133.4;FBXO11,missense_variant,p.Glu328Val,ENST00000434523,;FBXO11,splice_region_variant,,ENST00000405808,;MSH6,3_prime_UTR_variant,,ENST00000234420,NM_000179.2;MSH6,downstream_gene_variant,,ENST00000538136,NM_001281494.1;MSH6,downstream_gene_variant,,ENST00000540021,NM_001281492.1,NM_001281493.1;FBXO11,downstream_gene_variant,,ENST00000493962,;FBXO11,missense_variant,p.Glu58Val,ENST00000434234,;FBXO11,non_coding_transcript_exon_variant,,ENST00000465204,;MSH6,downstream_gene_variant,,ENST00000445503,;FBXO11,downstream_gene_variant,,ENST00000470899,;							MODERATE	2711/2784	E904V	FBX11_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000384823		CCDS54357.1			1	
ZBTB21	0	LGGM	GRCh37	21	43411771	43411771	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	45	14	.	.	ENST00000310826.5:c.2434C>A	p.Pro812Thr	p.P812T	ENST00000310826	NM_001098402.1	812	Ccc/Acc	0	1	1	UPI000013C34D	0	NA	ENST00000310826		ENSG00000173276	13083		59	1.59		HGNC	p.P812T	rs763003881	ZBTB21		SNV							ENST00000398499	protein_coding	getma.org/?cm=var&var=hg19,21,43411771,G,T&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF8,Superfamily_domains:SSF57667		P/T		T	low	2618/7449		getma.org/?cm=msa&ty=f&p=ZN295_HUMAN&rb=693&re=892&var=P812T	deleterious(0.02)	Q5KS07_HUMAN,E7EVF9_HUMAN			YES	ZBTB21,missense_variant,p.Pro812Thr,ENST00000310826,NM_001098402.1;ZBTB21,missense_variant,p.Pro611Thr,ENST00000398505,NM_001098403.1;ZBTB21,missense_variant,p.Pro812Thr,ENST00000398499,;ZBTB21,missense_variant,p.Pro812Thr,ENST00000398511,NM_020727.4;ZBTB21,downstream_gene_variant,,ENST00000425521,;ZBTB21,downstream_gene_variant,,ENST00000398497,;ZBTB21,downstream_gene_variant,,ENST00000449949,;ZBTB21,non_coding_transcript_exon_variant,,ENST00000465968,;	0.000693						MODERATE	2434/3201	P812T	ZBT21_HUMAN			Transcript		benign(0.097)	common_variant	ENSP00000308759	4.94E-05	CCDS13678.1			1	
GPR15LG	0	LGGM	GRCh37	10	85936262	85936262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	28	15	.	.	ENST00000372126.3:c.97T>A	p.Ser33Thr	p.S33T	ENST00000372126	NM_207373.2	33	Tca/Aca	0	1	1	UPI0000046D02	0		ENST00000372126		ENSG00000188373	31428		43			HGNC	p.S33T		C10orf99		SNV							ENST00000372126	protein_coding					S/T		A		211/888			tolerated(0.29)				YES	C10orf99,missense_variant,p.Ser33Thr,ENST00000372126,NM_207373.2;C10orf99,upstream_gene_variant,,ENST00000472542,;							MODERATE	97/246		CJ099_HUMAN			Transcript		benign(0.036)	.	ENSP00000361199		CCDS7371.1			1	
IDO1	0	LGGM	GRCh37	8	39782881	39782881	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	26	15	.	.	ENST00000518237.1:c.847G>A	p.Ala283Thr	p.A283T	ENST00000518237	NM_002164.5	283	Gct/Act	0	1	1	UPI00000012AA	0	getma.org/pdb.php?prot=I23O1_HUMAN&from=8&to=400&var=A283T	ENST00000518237		ENSG00000131203	6059		41	0.85		HGNC	p.A283T		IDO1		SNV							ENST00000518237	protein_coding	getma.org/?cm=var&var=hg19,8,39782881,G,A&fts=all		Pfam_domain:PF01231,Superfamily_domains:SSF140959		A/T		A	low	1486/2097		getma.org/?cm=msa&ty=f&p=I23O1_HUMAN&rb=8&re=400&var=A283T	tolerated(0.59)	E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN			YES	IDO1,missense_variant,p.Ala283Thr,ENST00000518237,NM_002164.5;IDO1,missense_variant,p.Ala283Thr,ENST00000522495,;IDO1,downstream_gene_variant,,ENST00000519154,;RP11-44K6.3,intron_variant,,ENST00000517623,;RP11-44K6.4,upstream_gene_variant,,ENST00000522970,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,non_coding_transcript_exon_variant,,ENST00000523779,;IDO1,downstream_gene_variant,,ENST00000521636,;IDO1,downstream_gene_variant,,ENST00000521480,;							MODERATE	847/1212	A283T	I23O1_HUMAN			Transcript		benign(0.001)	.	ENSP00000430950		CCDS47847.1			1	
PCDHGB6	0	LGGM	GRCh37	5	140789659	140789659	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	8	15	.	.	ENST00000520790.1:c.1890A>G	p.Arg630=	p.R630=	ENST00000520790	NM_018926.2	630	cgA/cgG	0	1	1	UPI000006EB47	0		ENST00000520790		ENSG00000253305	8713		23			HGNC	p.R630R		PCDHGB6		SNV							ENST00000520790	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF66,SMART_domains:SM00112,Superfamily_domains:SSF49313		R		G		1890/4599				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB6,synonymous_variant,p.=,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;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;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;PCDHGA10,upstream_gene_variant,,ENST00000398610,NM_018913.2,NM_032090.1;							LOW	1890/2793		PCDGI_HUMAN			Transcript			.	ENSP00000428603		CCDS54929.1			1	
RSPO1	0	LGGM	GRCh37	1	38082246	38082246	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	23	16	.	.	ENST00000356545.2:c.196A>G	p.Arg66Gly	p.R66G	ENST00000356545	NM_001038633.3	66	Agg/Ggg	0	1	1	UPI0000674A16	0	NA	ENST00000356545		ENSG00000169218	21679		39	1.31		HGNC	p.R66G		RSPO1		SNV			1				ENST00000356545	protein_coding	getma.org/?cm=var&var=hg19,1,38082246,T,C&fts=all		Gene3D:2.10.220.10,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF33,SMART_domains:SM00261,Superfamily_domains:SSF57184		R/G		C	low	984/2985		getma.org/?cm=msa&ty=f&p=RSPO1_HUMAN&rb=1&re=150&var=R66G	deleterious(0)				YES	RSPO1,missense_variant,p.Arg66Gly,ENST00000356545,NM_001038633.3;RSPO1,missense_variant,p.Arg66Gly,ENST00000401069,NM_001242908.1;RSPO1,missense_variant,p.Arg66Gly,ENST00000401070,;RSPO1,missense_variant,p.Arg66Gly,ENST00000401071,NM_001242910.1;RSPO1,missense_variant,p.Arg39Gly,ENST00000373059,NM_001242909.1;RSPO1,missense_variant,p.Arg66Gly,ENST00000401068,;							MODERATE	196/792	R66G	RSPO1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000348944		CCDS41304.1			1	
KRT10	0	LGGM	GRCh37	17	38978496	38978496	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	25	16	.	.	ENST00000269576.5:c.342G>A	p.Gly114=	p.G114=	ENST00000269576	NM_000421.3	114	ggG/ggA	0	1	1	UPI000013D842	0		ENST00000269576		ENSG00000186395	6413		41			HGNC	p.G114G		KRT10		SNV			1				ENST00000269576	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,Low_complexity_(Seg):seg		G		T		352/2124							YES	KRT10,synonymous_variant,p.=,ENST00000269576,NM_000421.3;TMEM99,intron_variant,,ENST00000301665,NM_145274.3,NM_001195387.1,NM_001195386.1;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000496847,;							LOW	342/1755		K1C10_HUMAN			Transcript			.	ENSP00000269576		CCDS11377.1			1	
LRP4	0	LGGM	GRCh37	11	46898837	46898837	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	9	17	.	.	ENST00000378623.1:c.3190C>T	p.Leu1064=	p.L1064=	ENST00000378623	NM_002334.3	1064	Ctg/Ttg	0	1	1	UPI0000D625E9	0		ENST00000378623		ENSG00000134569	6696		26			HGNC	p.L1064L		LRP4		SNV			1				ENST00000378623	protein_coding			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Superfamily_domains:SSF63825		L		A		3433/8076							YES	LRP4,synonymous_variant,p.=,ENST00000378623,NM_002334.3;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;							LOW	3190/5718		LRP4_HUMAN			Transcript			.	ENSP00000367888		CCDS31478.1			1	
OR10K1	0	LGGM	GRCh37	1	158435486	158435486	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	57	17	.	.	ENST00000289451.2:c.135C>G	p.Ile45Met	p.I45M	ENST00000289451	NM_001004473.1	45	atC/atG	0	1	1	UPI0000041B19	0	getma.org/pdb.php?prot=O10K1_HUMAN&from=1&to=138&var=I45M	ENST00000289451		ENSG00000173285	14693		74	1.78		HGNC	p.I45M		OR10K1		SNV							ENST00000289451	protein_coding	getma.org/?cm=var&var=hg19,1,158435486,C,G&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF112,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/M		G	low	215/1073		getma.org/?cm=msa&ty=f&p=O10K1_HUMAN&rb=1&re=138&var=I45M	deleterious(0)				YES	OR10K1,missense_variant,p.Ile45Met,ENST00000289451,NM_001004473.1;							MODERATE	135/942	I45M	O10K1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000289451		CCDS30897.1			1	
OBSCN	0	LGGM	GRCh37	1	228560409	228560409	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	95	17	.	.	ENST00000570156.2:c.24801A>T	p.Ser8267=	p.S8267=	ENST00000570156	NM_001271223.2	8267	tcA/tcT	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		112			HGNC	p.S8022S		OBSCN		SNV							ENST00000570156	protein_coding			hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897		S		T		21974/24030								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,;							LOW	21930/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
PAN2	0	LGGM	GRCh37	12	56717329	56717329	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	27	18	.	.	ENST00000425394.2:c.2238G>T	p.Glu746Asp	p.E746D	ENST00000425394	NM_001127460.2	746	gaG/gaT	0	1	1	UPI0000577D0A	0	NA	ENST00000425394		ENSG00000135473	20074		45	1.95		HGNC	p.E746D		PAN2		SNV							ENST00000548043	protein_coding	getma.org/?cm=var&var=hg19,12,56717329,C,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR15728,hmmpanther:PTHR15728:SF0,Pfam_domain:PF13423,Superfamily_domains:SSF54001		E/D		A	medium	2615/5372		getma.org/?cm=msa&ty=f&p=PAN2_HUMAN&rb=517&re=898&var=E746D	tolerated(0.43)	F8VXK8_HUMAN			YES	PAN2,missense_variant,p.Glu746Asp,ENST00000425394,NM_001127460.2;PAN2,missense_variant,p.Glu746Asp,ENST00000548043,;PAN2,missense_variant,p.Glu742Asp,ENST00000440411,NM_001166279.1,NM_014871.4;PAN2,missense_variant,p.Glu745Asp,ENST00000257931,;PAN2,downstream_gene_variant,,ENST00000547572,;PAN2,upstream_gene_variant,,ENST00000549090,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547226,;PAN2,non_coding_transcript_exon_variant,,ENST00000549348,;PAN2,downstream_gene_variant,,ENST00000547994,;PAN2,upstream_gene_variant,,ENST00000553230,;PAN2,upstream_gene_variant,,ENST00000552630,;PAN2,downstream_gene_variant,,ENST00000549073,;PAN2,upstream_gene_variant,,ENST00000550028,;PAN2,downstream_gene_variant,,ENST00000547518,;PAN2,downstream_gene_variant,,ENST00000550555,;PAN2,upstream_gene_variant,,ENST00000547100,;PAN2,downstream_gene_variant,,ENST00000552868,;PAN2,downstream_gene_variant,,ENST00000548982,;							MODERATE	2238/3609	E746D	PAN2_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000401721		CCDS44922.1			1	
CAND2	0	LGGM	GRCh37	3	12858318	12858318	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	16	18	.	.	ENST00000456430.2:c.1887C>T	p.Pro629=	p.P629=	ENST00000456430	NM_001162499.1	629	ccC/ccT	0	1	1	UPI00005795FA	0		ENST00000456430		ENSG00000144712	30689		34			HGNC	p.P629P	rs370985552	CAND2	0.000121	SNV	T:0						ENST00000456430	protein_coding		T:0	hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		P	T:0.0001	T		1928/4573	9.12E-05				T:0	T:0	YES	CAND2,synonymous_variant,p.=,ENST00000456430,NM_001162499.1;CAND2,synonymous_variant,p.=,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;		T:0.0002					LOW	1887/3711		CAND2_HUMAN		T:0	Transcript			.	ENSP00000387641	6.61E-05	CCDS54554.1		T:0.001	1	
KIT	0	LGGM	GRCh37	4	55569949	55569949	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	21	19	.	.	ENST00000288135.5:c.816G>A	p.Gln272=	p.Q272=	ENST00000288135	NM_000222.2	272	caG/caA	0	1	1	UPI000003F17D	0		ENST00000288135		ENSG00000157404	6342		40			HGNC	p.Q272Q	rs758792480	KIT		SNV			1				ENST00000288135	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF00047,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00409,PIRSF_domain:PIRSF500951,SMART_domains:SM00408,Superfamily_domains:SSF48726		Q		A		913/5186	1.50E-05			Q8TCG9_HUMAN			YES	KIT,synonymous_variant,p.=,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,synonymous_variant,p.=,ENST00000412167,;							LOW	816/2931		KIT_HUMAN			Transcript			.	ENSP00000288135	8.24E-06	CCDS3496.1			1	
DUSP16	0	LGGM	GRCh37	12	12630397	12630397	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	25	19	.	.	ENST00000228862.2:c.1368C>T	p.Pro456=	p.P456=	ENST00000228862	NM_030640.2	456	ccC/ccT	0	1		UPI000006F54D	0		ENST00000298573		ENSG00000111266	17909		44			HGNC	p.P456P		DUSP16		SNV							ENST00000228862	protein_coding							A		1231/1935				Q96QS2_HUMAN,F5H5X4_HUMAN				DUSP16,synonymous_variant,p.=,ENST00000228862,NM_030640.2;DUSP16,3_prime_UTR_variant,,ENST00000298573,;DUSP16,downstream_gene_variant,,ENST00000545864,;							MODIFIER	-/432					Transcript			.	ENSP00000298573					1	
QPCT	0	LGGM	GRCh37	2	37594397	37594397	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	69	20	.	.	ENST00000338415.3:c.569A>G	p.Asp190Gly	p.D190G	ENST00000338415	NM_012413.3	190	gAt/gGt	0	1	1	UPI000000DC4F	0	getma.org/pdb.php?prot=QPCT_HUMAN&from=133&to=345&var=D190G	ENST00000338415		ENSG00000115828	9753		89	2.24		HGNC	p.D190G		QPCT		SNV							ENST00000338415	protein_coding	getma.org/?cm=var&var=hg19,2,37594397,A,G&fts=all		hmmpanther:PTHR12283,hmmpanther:PTHR12283:SF5,Pfam_domain:PF04389,Gene3D:3.40.630.10,Superfamily_domains:SSF53187		D/G		G	medium	727/1739		getma.org/?cm=msa&ty=f&p=QPCT_HUMAN&rb=133&re=345&var=D190G	deleterious(0.05)				YES	QPCT,missense_variant,p.Asp190Gly,ENST00000338415,NM_012413.3;QPCT,missense_variant,p.Asp141Gly,ENST00000537448,;QPCT,missense_variant,p.Asp141Gly,ENST00000404976,;QPCT,upstream_gene_variant,,ENST00000444022,;QPCT,non_coding_transcript_exon_variant,,ENST00000469098,;QPCT,non_coding_transcript_exon_variant,,ENST00000480050,;							MODERATE	569/1086	D190G	QPCT_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000344829		CCDS1790.1			1	
NUPL1	0	LGGM	GRCh37	13	25914272	25914272	+	stop_retained_variant	Silent	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	5	21	.	.	ENST00000381736.3:c.1800A>G	p.Ter600=	p.*600=	ENST00000381736	NM_014089.3	600	taA/taG	0	1	1	UPI000006D9D4	0		ENST00000381736		ENSG00000139496	20261		26			HGNC	p.X600X		NUPL1		SNV							ENST00000381736	protein_coding					*		G		2050/4322							YES	NUPL1,stop_retained_variant,p.=,ENST00000381736,NM_014089.3,NM_001008564.1;NUPL1,stop_retained_variant,p.=,ENST00000381718,;NUPL1,downstream_gene_variant,,ENST00000463407,;NUPL1,downstream_gene_variant,,ENST00000381747,;NUPL1,downstream_gene_variant,,ENST00000394327,;NUPL1,intron_variant,,ENST00000477876,;NUPL1,downstream_gene_variant,,ENST00000466694,;							LOW	1800/1800		NUPL1_HUMAN			Transcript			.	ENSP00000371155		CCDS9314.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103325997	103325997	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	67	21	.	.	ENST00000398093.3:c.12561T>G	p.Leu4187=	p.L4187=	ENST00000398093		4187	ctT/ctG	0	1		UPI0000418CA2	0		ENST00000375735		ENSG00000187240	2962		88			HGNC	p.L97L		DYNC2H1		SNV			1				ENST00000533197	protein_coding			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		L		G		12684/13678								DYNC2H1,synonymous_variant,p.=,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,synonymous_variant,p.=,ENST00000398093,;DYNC2H1,synonymous_variant,p.=,ENST00000334267,;DYNC2H1,synonymous_variant,p.=,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;							LOW	12540/12924		DYHC2_HUMAN			Transcript			.	ENSP00000364887		CCDS53701.1			1	
CEACAM6	0	LGGM	GRCh37	19	42265230	42265230	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	143	21	.	.	ENST00000199764.6:c.498C>A	p.Thr166=	p.T166=	ENST00000199764	NM_002483.4	166	acC/acA	0	1	1	UPI000006DF42	0		ENST00000199764		ENSG00000086548	1818		164			HGNC	p.T166T		CEACAM6		SNV							ENST00000199764	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF121,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		T		A		716/2700				Q13985_HUMAN,M0QYD3_HUMAN			YES	CEACAM6,synonymous_variant,p.=,ENST00000199764,NM_002483.4;CEA,downstream_gene_variant,,ENST00000598976,;CEACAM6,downstream_gene_variant,,ENST00000595740,;CEA,downstream_gene_variant,,ENST00000435837,;AC011513.4,intron_variant,,ENST00000601409,;							LOW	498/1035		CEAM6_HUMAN			Transcript			.	ENSP00000199764		CCDS12585.1			1	
DNAJC12	0	LGGM	GRCh37	10	69571416	69571416	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	30	21	.	.	ENST00000225171.2:c.163A>G	p.Thr55Ala	p.T55A	ENST00000225171	NM_021800.2	55	Act/Gct	0	1	1	UPI000012DAAA	0	getma.org/pdb.php?prot=DJC12_HUMAN&from=14&to=76&var=T55A	ENST00000225171		ENSG00000108176	28908		51	-0.365		HGNC	p.T55A		DNAJC12		SNV							ENST00000339758	protein_coding	getma.org/?cm=var&var=hg19,10,69571416,T,C&fts=all		PROSITE_profiles:PS50076,hmmpanther:PTHR24078:SF137,hmmpanther:PTHR24078,Pfam_domain:PF00226,Gene3D:1.10.287.110,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625		T/A		C	neutral	316/1197		getma.org/?cm=msa&ty=f&p=DJC12_HUMAN&rb=14&re=76&var=T55A	tolerated(0.69)	Q6IAH1_HUMAN			YES	DNAJC12,missense_variant,p.Thr55Ala,ENST00000225171,NM_021800.2;DNAJC12,missense_variant,p.Thr55Ala,ENST00000339758,NM_201262.1;DNAJC12,missense_variant,p.Thr85Ala,ENST00000483798,;RNU6-1250P,downstream_gene_variant,,ENST00000391218,;DNAJC12,3_prime_UTR_variant,,ENST00000480963,;DNAJC12,3_prime_UTR_variant,,ENST00000480180,;							MODERATE	163/597	T55A	DJC12_HUMAN			Transcript		benign(0.07)	.	ENSP00000225171		CCDS7271.1			1	
LRRC52	0	LGGM	GRCh37	1	165513751	165513751	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	123	22	.	.	ENST00000294818.1:c.218T>A	p.Leu73Gln	p.L73Q	ENST00000294818	NM_001005214.3	73	cTa/cAa	0	1	1	UPI000013E1BE	0	NA	ENST00000294818		ENSG00000162763	32156		145	3.245		HGNC	p.L73Q		LRRC52		SNV							ENST00000294818	protein_coding	getma.org/?cm=var&var=hg19,1,165513751,T,A&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF37,Superfamily_domains:SSF52058		L/Q		A	medium	508/1369		getma.org/?cm=msa&ty=f&p=LRC52_HUMAN&rb=53&re=101&var=L73Q	deleterious(0)				YES	LRRC52,missense_variant,p.Leu73Gln,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;RP11-280O1.2,upstream_gene_variant,,ENST00000452283,;							MODERATE	218/942	L73Q	LRC52_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000294818		CCDS30930.1			1	
PEX1	0	LGGM	GRCh37	7	92135659	92135659	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	19	23	.	.	ENST00000248633.4:c.1804-1G>A		p.X602_splice	ENST00000248633	NM_000466.2			0	1	1	UPI0000001C39	0		ENST00000248633		ENSG00000127980	8850		42			HGNC	-		PEX1		SNV			1				ENST00000248633	protein_coding							T		-/4385				Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN			YES	PEX1,splice_acceptor_variant,,ENST00000248633,NM_000466.2;PEX1,splice_acceptor_variant,,ENST00000428214,NM_001282677.1;PEX1,splice_acceptor_variant,,ENST00000438045,;PEX1,splice_acceptor_variant,,ENST00000541751,;PEX1,splice_acceptor_variant,,ENST00000484913,;PEX1,splice_acceptor_variant,,ENST00000422866,;PEX1,non_coding_transcript_exon_variant,,ENST00000496420,;PEX1,downstream_gene_variant,,ENST00000476923,;PEX1,upstream_gene_variant,,ENST00000496092,;							HIGH	1804/3852		PEX1_HUMAN			Transcript			.	ENSP00000248633		CCDS5627.1			1	
MUC17	0	LGGM	GRCh37	7	100677620	100677620	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	259	24	.	.	ENST00000306151.4:c.2923A>C	p.Thr975Pro	p.T975P	ENST00000306151	NM_001040105.1	975	Acc/Ccc	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		283	0		HGNC	p.T975P		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100677620,A,C&fts=all				T/P		C	neutral	2987/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T975P		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Thr975Pro,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr975Pro,ENST00000379439,;							MODERATE	2923/13482	T975P	MUC17_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000302716		CCDS34711.1			1	
KIF1B	0	LGGM	GRCh37	1	10318559	10318559	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	21	24	.	.	ENST00000263934.6:c.192T>G	p.Asp64Glu	p.D64E	ENST00000263934	NM_015074.3	64	gaT/gaG	0	1		UPI000003424C	0	getma.org/pdb.php?prot=KIF1B_HUMAN&from=11&to=354&var=D64E	ENST00000377086		ENSG00000054523	16636		45	1.37		HGNC	p.D64E		KIF1B		SNV			1				ENST00000263934	protein_coding	getma.org/?cm=var&var=hg19,1,10318559,T,G&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328,SMART_domains:SM00129,Superfamily_domains:SSF52540		D/E		G	low	394/10669		getma.org/?cm=msa&ty=f&p=KIF1B_HUMAN&rb=11&re=354&var=D64E	deleterious(0)	B4DMF3_HUMAN				KIF1B,missense_variant,p.Asp64Glu,ENST00000377086,;KIF1B,missense_variant,p.Asp64Glu,ENST00000377081,;KIF1B,missense_variant,p.Asp64Glu,ENST00000377093,NM_183416.3;KIF1B,missense_variant,p.Asp64Glu,ENST00000263934,NM_015074.3;KIF1B,missense_variant,p.Asp64Glu,ENST00000377083,;							MODERATE	192/5451	D64E	KIF1B_HUMAN			Transcript		benign(0.274)	.	ENSP00000366290					1	
LAMA2	0	LGGM	GRCh37	6	129724998	129724998	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	30	24	.	.	ENST00000421865.2:c.5759A>G	p.Asn1920Ser	p.N1920S	ENST00000421865	NM_001079823.1	1920	aAt/aGt	0	1	1	UPI00003673E0	0	NA	ENST00000421865		ENSG00000196569	6482		54	2.14		HGNC	p.N1920S	rs754865488	LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129724998,A,G&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Superfamily_domains:SSF58104		N/S		G	medium	5808/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=1854&re=2036&var=N1920S	deleterious(0.02)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Asn1920Ser,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	5759/9369	N1920S	LAMA2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000400365		CCDS5138.1			1	
PPP1R3A	0	LGGM	GRCh37	7	113519968	113519968	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	108	24	.	.	ENST00000284601.3:c.1179A>T	p.Lys393Asn	p.K393N	ENST00000284601	NM_002711.3	393	aaA/aaT	0	1	1	UPI000013DDAA	0	NA	ENST00000284601		ENSG00000154415	9291		132	1.385		HGNC	p.K393N		PPP1R3A		SNV			1				ENST00000284601	protein_coding	getma.org/?cm=var&var=hg19,7,113519968,T,A&fts=all		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2		K/N		A	low	1248/4384		getma.org/?cm=msa&ty=f&p=PPR3A_HUMAN&rb=241&re=1120&var=K393N	tolerated(0.1)	C9JZB3_HUMAN			YES	PPP1R3A,missense_variant,p.Lys393Asn,ENST00000284601,NM_002711.3;PPP1R3A,missense_variant,p.Lys72Asn,ENST00000449795,;PPP1R3A,3_prime_UTR_variant,,ENST00000284602,;							MODERATE	1179/3369	K393N	PPR3A_HUMAN			Transcript		benign(0.015)	.	ENSP00000284601		CCDS5759.1			1	
CCDC175	0	LGGM	GRCh37	14	60011932	60011932	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	35	25	.	.	ENST00000537690.2:c.1121T>G	p.Val374Gly	p.V374G	ENST00000537690	NM_001164399.1	374	gTt/gGt	0	1	1	UPI000059D254	0	NA	ENST00000537690		ENSG00000151838	19847		60	0.975		HGNC	p.V374G		CCDC175		SNV							ENST00000537690	protein_coding	getma.org/?cm=var&var=hg19,14,60011932,A,C&fts=all		Coiled-coils_(Ncoils):Coil		V/G		C	low	1177/2616		getma.org/?cm=msa&ty=f&p=CN038_HUMAN&rb=201&re=400&var=V374G	deleterious(0)				YES	CCDC175,missense_variant,p.Val374Gly,ENST00000537690,NM_001164399.1;CCDC175,missense_variant,p.Val374Gly,ENST00000281581,;CCDC175,intron_variant,,ENST00000556936,;							MODERATE	1121/2382	V374G				Transcript		possibly_damaging(0.882)	.	ENSP00000453940		CCDS53898.1			1	
CHD4	0	LGGM	GRCh37	12	6705185	6705185	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	24	25	.	.	ENST00000357008.2:c.2011T>C	p.Tyr671His	p.Y671H	ENST00000357008	NM_001273.2	671	Tat/Cat	0	1	1	UPI000013C8EF	0	getma.org/pdb.php?prot=CHD4_HUMAN&from=622&to=674&var=Y671H	ENST00000357008		ENSG00000111642	1919		49	3.275		HGNC	p.Y664H		CHD4		SNV							ENST00000544040	protein_coding	getma.org/?cm=var&var=hg19,12,6705185,A,G&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,SMART_domains:SM00298,Superfamily_domains:SSF54160		Y/H		G	medium	2175/6496		getma.org/?cm=msa&ty=f&p=CHD4_HUMAN&rb=622&re=674&var=Y671H	deleterious(0.01)	F5H6N4_HUMAN			YES	CHD4,missense_variant,p.Tyr671His,ENST00000309577,;CHD4,missense_variant,p.Tyr668His,ENST00000544484,;CHD4,missense_variant,p.Tyr664His,ENST00000544040,;CHD4,missense_variant,p.Tyr671His,ENST00000357008,NM_001273.2;CHD4,downstream_gene_variant,,ENST00000545942,;CHD4,non_coding_transcript_exon_variant,,ENST00000536999,;CHD4,downstream_gene_variant,,ENST00000535810,;CHD4,upstream_gene_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000537634,;CHD4,upstream_gene_variant,,ENST00000545083,;							MODERATE	2011/5739	Y671H	CHD4_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000349508		CCDS8552.1			1	
NLRP9	0	LGGM	GRCh37	19	56243564	56243564	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	39	25	.	.	ENST00000332836.2:c.1633C>A	p.Leu545Ile	p.L545I	ENST00000332836	NM_176820.2	545	Cta/Ata	0	1	1	UPI00001B6B39	0	NA	ENST00000332836		ENSG00000185792	22941		64	2.215		HGNC	p.L545I		NLRP9		SNV							ENST00000332836	protein_coding	getma.org/?cm=var&var=hg19,19,56243564,G,T&fts=all		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		L/I		T	medium	1661/3484		getma.org/?cm=msa&ty=f&p=NALP9_HUMAN&rb=515&re=714&var=L545I	deleterious(0)				YES	NLRP9,missense_variant,p.Leu545Ile,ENST00000332836,NM_176820.2;NLRP9,missense_variant,p.Leu545Ile,ENST00000590200,;							MODERATE	1633/2976	L545I	NALP9_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000331857		CCDS12934.1			1	
CTAGE1	0	LGGM	GRCh37	18	19997673	19997673	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	37	26	.	.	ENST00000391403.2:c.102A>G	p.Arg34=	p.R34=	ENST00000391403	NM_172241.2	34	agA/agG	0	1	1	UPI00000721F4	0		ENST00000391403		ENSG00000212710	24346		63			HGNC	p.R34R		CTAGE1		SNV							ENST00000391403	protein_coding			hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF41		R		C		206/4306				Q8NEG8_HUMAN			YES	CTAGE1,synonymous_variant,p.=,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;							LOW	102/2238		CTGE2_HUMAN			Transcript			.	ENSP00000375220		CCDS45837.1			1	
IL16	0	LGGM	GRCh37	15	81598385	81598385	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	24	26	.	.	ENST00000302987.4:c.3557G>C	p.Arg1186Pro	p.R1186P	ENST00000302987		1186	cGa/cCa	0	1	1	UPI0000229CE7	0	getma.org/pdb.php?prot=IL16_HUMAN&from=1113&to=1194&var=R1186P	ENST00000302987		ENSG00000172349	5980		50	1.075		HGNC	p.R485P		IL16		SNV							ENST00000394652	protein_coding	getma.org/?cm=var&var=hg19,15,81598385,G,C&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/P		C	low	3557/3999		getma.org/?cm=msa&ty=f&p=IL16_HUMAN&rb=1113&re=1194&var=R1186P	deleterious(0)	H0YLL1_HUMAN			YES	IL16,missense_variant,p.Arg1186Pro,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,missense_variant,p.Arg1186Pro,ENST00000302987,;IL16,missense_variant,p.Arg1140Pro,ENST00000559388,;IL16,missense_variant,p.Arg485Pro,ENST00000394652,NM_004513.5;IL16,missense_variant,p.Arg490Pro,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,;							MODERATE	3557/3999	R1186P	IL16_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000302935		CCDS42069.1			1	
RAD51AP2	0	LGGM	GRCh37	2	17699502	17699502	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	73	28	.	.	ENST00000399080.2:c.181G>A	p.Glu61Lys	p.E61K	ENST00000399080	NM_001099218.2	61	Gaa/Aaa	0	1	1	UPI0000418FD4	0	NA	ENST00000399080		ENSG00000214842	34417		101	0.895		HGNC	p.E61K		RAD51AP2		SNV							ENST00000399080	protein_coding	getma.org/?cm=var&var=hg19,2,17699502,C,T&fts=all				E/K		T	low	205/3724		getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=E61K	deleterious(0.01)				YES	RAD51AP2,missense_variant,p.Glu61Lys,ENST00000399080,NM_001099218.2;							MODERATE	181/3480	E61K	R51A2_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000382030		CCDS42656.1			1	
DCN	0	LGGM	GRCh37	12	91550903	91550903	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050313	H050313N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	46	31	.	.	ENST00000052754.5:c.601A>C	p.Lys201Gln	p.K201Q	ENST00000052754	NM_001920.3	201	Aag/Cag	0	1	1	UPI000013187E	0	getma.org/pdb.php?prot=PGS2_HUMAN&from=150&to=212&var=K201Q	ENST00000052754		ENSG00000011465	2705		77	1.955		HGNC	p.K201Q		DCN		SNV			1				ENST00000552962	protein_coding	getma.org/?cm=var&var=hg19,12,91550903,T,G&fts=all		hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058		K/Q		G	medium	1103/2392		getma.org/?cm=msa&ty=f&p=PGS2_HUMAN&rb=150&re=212&var=K201Q	tolerated(0.22)	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN			YES	DCN,missense_variant,p.Lys201Gln,ENST00000052754,NM_001920.3;DCN,missense_variant,p.Lys201Gln,ENST00000393155,NM_133503.2;DCN,missense_variant,p.Lys92Gln,ENST00000228329,;DCN,missense_variant,p.Lys201Gln,ENST00000552962,;DCN,missense_variant,p.Lys92Gln,ENST00000420120,NM_133504.2;DCN,intron_variant,,ENST00000303320,NM_133506.2;DCN,intron_variant,,ENST00000425043,NM_133505.2;DCN,intron_variant,,ENST00000547568,;DCN,intron_variant,,ENST00000546391,;DCN,intron_variant,,ENST00000441303,;DCN,intron_variant,,ENST00000456569,NM_133507.2;DCN,upstream_gene_variant,,ENST00000550758,;DCN,downstream_gene_variant,,ENST00000549513,;DCN,downstream_gene_variant,,ENST00000547937,;DCN,downstream_gene_variant,,ENST00000552145,;DCN,downstream_gene_variant,,ENST00000550563,;							MODERATE	601/1080	K201Q	PGS2_HUMAN			Transcript		benign(0.147)	.	ENSP00000052754		CCDS9039.1			1	
LAYN	0	LGGM	GRCh37	11	111425943	111425943	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	24	33	.	.	ENST00000375615.3:c.610G>A	p.Glu204Lys	p.E204K	ENST00000375615	NM_001258390.1	204	Gag/Aag	0	1	1	UPI0000048EB1	0	NA	ENST00000375615		ENSG00000204381	29471		57	2.08		HGNC	p.E196K	COSM922995	LAYN		SNV						1	ENST00000533265	protein_coding	getma.org/?cm=var&var=hg19,11,111425943,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14789,hmmpanther:PTHR14789:SF2		E/K		A	medium	795/1836		getma.org/?cm=msa&ty=f&p=LAYN_HUMAN&rb=189&re=380&var=E204K	tolerated(0.14)	E9PQY8_HUMAN,E9PK64_HUMAN,B4DDS5_HUMAN			YES	LAYN,missense_variant,p.Glu51Lys,ENST00000436913,NM_001258391.1;LAYN,missense_variant,p.Glu196Lys,ENST00000375614,NM_178834.4;LAYN,missense_variant,p.Glu204Lys,ENST00000375615,NM_001258390.1;LAYN,missense_variant,p.Glu204Lys,ENST00000525126,;LAYN,missense_variant,p.Glu196Lys,ENST00000533265,;LAYN,missense_variant,p.Glu52Lys,ENST00000530962,;LAYN,downstream_gene_variant,,ENST00000528102,;LAYN,downstream_gene_variant,,ENST00000533999,;LAYN,non_coding_transcript_exon_variant,,ENST00000528924,;LAYN,3_prime_UTR_variant,,ENST00000525866,;					1		MODERATE	610/1149	E204K	LAYN_HUMAN			Transcript		benign(0.023)	.	ENSP00000364765		CCDS58178.1			1	
PHF20L1	0	LGGM	GRCh37	8	133858049	133858049	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	19	39	.	.	ENST00000395386.2:c.2935A>T	p.Thr979Ser	p.T979S	ENST00000395386	NM_016018.4	979	Aca/Tca	0	1	1	UPI0000DBD7AF	0	NA	ENST00000395386		ENSG00000129292	24280		58	1.87		HGNC	p.T366S		PHF20L1		SNV							ENST00000220847	protein_coding	getma.org/?cm=var&var=hg19,8,133858049,A,T&fts=all		hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26		T/S		T	low	3234/6237		getma.org/?cm=msa&ty=f&p=P20L1_HUMAN&rb=731&re=1015&var=T979S	tolerated(0.14)	E5RK91_HUMAN,B3KWX5_HUMAN			YES	PHF20L1,missense_variant,p.Thr979Ser,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Thr954Ser,ENST00000395390,NM_001277196.1;PHF20L1,missense_variant,p.Thr366Ser,ENST00000220847,;AF230666.2,upstream_gene_variant,,ENST00000608375,;AF230666.2,upstream_gene_variant,,ENST00000429151,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000477051,;							MODERATE	2935/3054	T979S	P20L1_HUMAN			Transcript		possibly_damaging(0.754)	.	ENSP00000378784		CCDS6367.2			1	
MUC4	0	LGGM	GRCh37	3	195509379	195509379	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	84	40	.	.	ENST00000463781.3:c.9072T>A	p.Pro3024=	p.P3024=	ENST00000463781	NM_018406.6	3024	ccT/ccA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		124			HGNC	p.P3024P		MUC4		SNV							ENST00000477086	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		P		T		9532/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	9072/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
MICALL1	0	LGGM	GRCh37	22	38323682	38323682	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	43	42	.	.	ENST00000215957.6:c.1730C>G	p.Ala577Gly	p.A577G	ENST00000215957	NM_033386.3	577	gCc/gGc	0	1	1	UPI000000DCAE	0	NA	ENST00000215957		ENSG00000100139	29804		85	2.075		HGNC	p.A577G		MICALL1		SNV							ENST00000215957	protein_coding	getma.org/?cm=var&var=hg19,22,38323682,C,G&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF33		A/G		G	medium	1856/4710		getma.org/?cm=msa&ty=f&p=MILK1_HUMAN&rb=235&re=677&var=A577G	deleterious(0.02)	Q68D58_HUMAN,Q641Q8_HUMAN,B0QY86_HUMAN			YES	MICALL1,missense_variant,p.Ala577Gly,ENST00000215957,NM_033386.3;MICALL1,missense_variant,p.Ala155Gly,ENST00000454685,;MICALL1,upstream_gene_variant,,ENST00000424008,;MICALL1,non_coding_transcript_exon_variant,,ENST00000402631,;							MODERATE	1730/2592	A577G	MILK1_HUMAN			Transcript		benign(0.427)	.	ENSP00000215957		CCDS13961.1			1	
ZNF234	0	LGGM	GRCh37	19	44662118	44662118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050313	H050313N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	84	44	.	.	ENST00000426739.2:c.1949A>G	p.Lys650Arg	p.K650R	ENST00000426739	NM_006630.2	650	aAa/aGa	0	1	1	UPI0000070C95	0	getma.org/pdb.php?prot=ZN234_HUMAN&from=638&to=663&var=K650R	ENST00000426739		ENSG00000263002	13027		128	1.83		HGNC	p.K650R		ZNF234		SNV							ENST00000592437	protein_coding	getma.org/?cm=var&var=hg19,19,44662118,A,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF195,Superfamily_domains:SSF57667		K/R		G	low	2207/3245		getma.org/?cm=msa&ty=f&p=ZN234_HUMAN&rb=618&re=683&var=K650R	deleterious(0.03)	Q86WM3_HUMAN,Q86WM2_HUMAN			YES	ZNF234,missense_variant,p.Lys650Arg,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Lys650Arg,ENST00000592437,NM_001144824.1;							MODERATE	1949/2103	K650R	ZN234_HUMAN			Transcript		benign(0.216)	.	ENSP00000400878		CCDS46101.1			1	
FBN2	0	LGGM	GRCh37	5	127668671	127668671	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	33	57	.	.	ENST00000508053.1:c.4155G>A	p.Leu1385=	p.L1385=	ENST00000508053		1385	ctG/ctA	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		90			HGNC	p.L1385L		FBN2		SNV			1				ENST00000262464	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		L		T		4594/10724								FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000508989,;FBN2,synonymous_variant,p.=,ENST00000507835,;							LOW	4155/8739		FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
NAV1	0	LGGM	GRCh37	1	201752753	201752753	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	64	75	.	.	ENST00000367296.4:c.2577C>T	p.Gly859=	p.G859=	ENST00000367296	NM_020443.4	859	ggC/ggT	0	1	1	UPI00004562D4	0		ENST00000367296		ENSG00000134369	15989		139			HGNC	p.G859G		NAV1		SNV							ENST00000367297	protein_coding			hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3		G		T		2997/13091							YES	NAV1,synonymous_variant,p.=,ENST00000367296,NM_020443.4;NAV1,synonymous_variant,p.=,ENST00000295624,;NAV1,synonymous_variant,p.=,ENST00000367297,;NAV1,synonymous_variant,p.=,ENST00000367300,;NAV1,synonymous_variant,p.=,ENST00000367295,NM_001167738.1;NAV1,synonymous_variant,p.=,ENST00000367302,;NAV1,synonymous_variant,p.=,ENST00000430015,;NAV1,upstream_gene_variant,,ENST00000438083,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,non_coding_transcript_exon_variant,,ENST00000469130,;NAV1,non_coding_transcript_exon_variant,,ENST00000490213,;NAV1,upstream_gene_variant,,ENST00000477118,;							LOW	2577/5634		NAV1_HUMAN			Transcript			.	ENSP00000356265		CCDS1414.2			1	
FRMPD1	0	LGGM	GRCh37	9	37744387	37744387	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H050313	H050313N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	85	83	.	.	ENST00000539465.1:c.2358G>A	p.Gly786=	p.G786=	ENST00000539465		786	ggG/ggA	0	1		UPI000013D2CC	0		ENST00000377765		ENSG00000070601	29159		168			HGNC	p.G786G		FRMPD1		SNV							ENST00000539465	protein_coding			hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		G		A		2457/4971				F5H0G3_HUMAN				FRMPD1,splice_region_variant,p.=,ENST00000539465,;FRMPD1,splice_region_variant,p.=,ENST00000377765,NM_014907.2;FRMPD1,downstream_gene_variant,,ENST00000536622,;FRMPD1,downstream_gene_variant,,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;							LOW	2358/4737		FRPD1_HUMAN			Transcript			.	ENSP00000366995		CCDS6612.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110454260	110454260	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050313	H050313N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050313N.bam, H050313T.bam	Illumina HiSeq	761	126	.	.	ENST00000378402.5:c.4229C>T	p.Ser1410Leu	p.S1410L	ENST00000378402	NM_177531.4	1410	tCa/tTa	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		887	1.525		HGNC	p.S1410L		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110454260,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Superfamily_domains:SSF49503		S/L		T	low	4333/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=1330&re=1469&var=S1410L	tolerated(0.07)				YES	PKHD1L1,missense_variant,p.Ser1410Leu,ENST00000378402,NM_177531.4;							MODERATE	4229/12732	S1410L	PKHL1_HUMAN			Transcript		benign(0.031)	.	ENSP00000367655		CCDS47911.1			1	
AGAP5	0	LGGM	GRCh37	10	75435590	75435590	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	16	2	.	.	ENST00000374094.4:c.828C>A	p.Ile276=	p.I276=	ENST00000374094	NM_001144000.1	276	atC/atA	0	1	1	UPI000049DCFD	0		ENST00000374094		ENSG00000172650	23467		18			HGNC	p.I253I		AGAP5		SNV							ENST00000443782	protein_coding			hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213		I		T		869/2426							YES	AGAP5,synonymous_variant,p.=,ENST00000443782,;AGAP5,synonymous_variant,p.=,ENST00000374094,NM_001144000.1;RP11-464F9.21,downstream_gene_variant,,ENST00000607450,;RP11-464F9.1,non_coding_transcript_exon_variant,,ENST00000399449,;AGAP5,downstream_gene_variant,,ENST00000607663,;							LOW	828/2061		AGAP5_HUMAN			Transcript			.	ENSP00000363207		CCDS44439.1			1	
SLC25A23	0	LGGM	GRCh37	19	6454046	6454046	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	16	2	.	.	ENST00000301454.4:c.849C>A	p.Phe283Leu	p.F283L	ENST00000301454	NM_024103.2	283	ttC/ttA	0	1	1	UPI0000049FAD	0	getma.org/pdb.php?prot=SCMC3_HUMAN&from=275&to=367&var=F283L	ENST00000301454		ENSG00000125648	19375		18	0.35		HGNC	p.F330L		SLC25A23		SNV							ENST00000264088	protein_coding	getma.org/?cm=var&var=hg19,19,6454046,G,T&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF196		F/L		T	neutral	956/3425		getma.org/?cm=msa&ty=f&p=SCMC3_HUMAN&rb=275&re=367&var=F283L	tolerated(0.27)	M0R1X8_HUMAN			YES	SLC25A23,missense_variant,p.Phe283Leu,ENST00000301454,NM_024103.2;SLC25A23,missense_variant,p.Phe283Leu,ENST00000334510,;SLC25A23,missense_variant,p.Phe107Leu,ENST00000600682,;SLC25A23,missense_variant,p.Phe100Leu,ENST00000414491,;SLC25A23,missense_variant,p.Phe46Leu,ENST00000593600,;SLC25A23,intron_variant,,ENST00000598908,;SLC25A23,intron_variant,,ENST00000601322,;SLC25A23,upstream_gene_variant,,ENST00000595810,;SLC25A23,downstream_gene_variant,,ENST00000597307,;SLC25A23,missense_variant,p.Phe330Leu,ENST00000264088,;SLC25A23,downstream_gene_variant,,ENST00000595267,;SLC25A23,upstream_gene_variant,,ENST00000598704,;SLC25A23,upstream_gene_variant,,ENST00000597039,;							MODERATE	849/1407	F283L	SCMC3_HUMAN			Transcript		benign(0.052)	.	ENSP00000301454		CCDS32882.1			1	
RYR1	0	LGGM	GRCh37	19	39063928	39063928	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	17	2	.	.	ENST00000359596.3:c.14110C>A	p.Arg4704=	p.R4704=	ENST00000359596		4704	Cga/Aga	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		19			HGNC	p.R4699R		RYR1		SNV			1				ENST00000355481	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		R		A		14110/15117				O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,synonymous_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000360985,;RYR1,synonymous_variant,p.=,ENST00000359596,;RYR1,downstream_gene_variant,,ENST00000593677,;							LOW	14110/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
GNB1L	0	LGGM	GRCh37	22	19799918	19799918	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	10	2	.	.	ENST00000329517.6:c.307G>T	p.Ala103Ser	p.A103S	ENST00000329517	NM_053004.2	103	Gct/Tct	0	1	1	UPI00000474FA	0	getma.org/pdb.php?prot=GNB1L_HUMAN&from=54&to=232&var=A103S	ENST00000329517		ENSG00000185838	4397		12	0.295		HGNC	p.A61S	COSM579495	GNB1L		SNV						1	ENST00000453108	protein_coding	getma.org/?cm=var&var=hg19,22,19799918,C,A&fts=all		Superfamily_domains:SSF50978,hmmpanther:PTHR19854,PROSITE_profiles:PS50294		A/S		A	neutral	544/6706		getma.org/?cm=msa&ty=f&p=GNB1L_HUMAN&rb=54&re=232&var=A103S	tolerated(0.82)				YES	GNB1L,missense_variant,p.Ala103Ser,ENST00000329517,NM_053004.2;GNB1L,missense_variant,p.Ala103Ser,ENST00000403325,;GNB1L,missense_variant,p.Ala103Ser,ENST00000405009,;GNB1L,missense_variant,p.Ala61Ser,ENST00000453108,;GNB1L,non_coding_transcript_exon_variant,,ENST00000460402,;GNB1L,non_coding_transcript_exon_variant,,ENST00000481086,;					1		MODERATE	307/984	A103S	GNB1L_HUMAN			Transcript		benign(0.008)	.	ENSP00000331313		CCDS13768.1			1	
ADRA1A	0	LGGM	GRCh37	8	26721949	26721949	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	5	2	.	.	ENST00000380586.1:c.538G>T	p.Glu180Ter	p.E180*	ENST00000380586	NM_033303.3	180	Gag/Tag	0	1		UPI000003B07A	0	NA	ENST00000276393		ENSG00000120907	277		7	0		HGNC	p.E180X		ADRA1A		SNV							ENST00000276393	protein_coding	getma.org/?cm=var&var=hg19,8,26721949,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF16,Superfamily_domains:SSF81321		E/*		A	NA	974/2281		NA		Q7KYZ9_HUMAN,Q6LD06_HUMAN				ADRA1A,stop_gained,p.Glu180Ter,ENST00000380573,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000380586,NM_033303.3;ADRA1A,stop_gained,p.Glu180Ter,ENST00000276393,NM_000680.2;ADRA1A,stop_gained,p.Glu180Ter,ENST00000380582,NM_033302.2;ADRA1A,stop_gained,p.Glu180Ter,ENST00000380587,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000519229,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000354550,NM_033304.2;ADRA1A,stop_gained,p.Glu180Ter,ENST00000380572,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000380581,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000358857,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000519096,;ADRA1A,stop_gained,p.Glu180Ter,ENST00000521711,;							HIGH	538/1401	E180*	ADA1A_HUMAN			Transcript			.	ENSP00000276393		CCDS6054.1			1	
COPB1	0	LGGM	GRCh37	11	14482871	14482871	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	13	2	.	.	ENST00000249923.3:c.2417A>G	p.Asp806Gly	p.D806G	ENST00000249923	NM_016451.4	806	gAt/gGt	0	1	1	UPI000000103D	0	NA	ENST00000249923		ENSG00000129083	2231		15	3.1		HGNC	p.D806G		COPB1		SNV							ENST00000439561	protein_coding	getma.org/?cm=var&var=hg19,11,14482871,T,C&fts=all		Pfam_domain:PF07718,PIRSF_domain:PIRSF005727,hmmpanther:PTHR10635		D/G		C	medium	2718/3481		getma.org/?cm=msa&ty=f&p=COPB_HUMAN&rb=665&re=947&var=D806G	deleterious(0)	E9PP63_HUMAN,E9PKQ1_HUMAN			YES	COPB1,missense_variant,p.Asp806Gly,ENST00000249923,NM_016451.4;COPB1,missense_variant,p.Asp806Gly,ENST00000439561,NM_001144061.1,NM_001144062.1;COPB1,non_coding_transcript_exon_variant,,ENST00000526527,;COPB1,upstream_gene_variant,,ENST00000525214,;COPB1,upstream_gene_variant,,ENST00000532088,;							MODERATE	2417/2862	D806G	COPB_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000249923		CCDS7815.1			1	
FBN3	0	LGGM	GRCh37	19	8176064	8176064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	14	2	.	.	ENST00000600128.1:c.4088G>T	p.Arg1363Met	p.R1363M	ENST00000600128		1363	aGg/aTg	0	1		UPI000013D88F	0	getma.org/pdb.php?prot=FBN3_HUMAN&from=1362&to=1402&var=R1363M	ENST00000270509		ENSG00000142449	18794		16	0.745		HGNC	p.R1363M		FBN3		SNV							ENST00000600128	protein_coding	getma.org/?cm=var&var=hg19,19,8176064,C,A&fts=all		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		R/M		A	neutral	4374/9232		getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1362&re=1402&var=R1363M	tolerated(0.11)					FBN3,missense_variant,p.Arg1363Met,ENST00000600128,;FBN3,missense_variant,p.Arg1363Met,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Arg1363Met,ENST00000601739,;FBN3,non_coding_transcript_exon_variant,,ENST00000594331,;							MODERATE	4088/8430	R1363M	FBN3_HUMAN			Transcript		benign(0.14)	.	ENSP00000270509		CCDS12196.1			1	
SLC45A3	0	LGGM	GRCh37	1	205632218	205632253	+	inframe_deletion	In_Frame_Del	DEL	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC	-	novel	by Submitter	H050329	H050329N.bam	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	7	3	.	.	ENST00000367145.3:c.666_701del	p.Leu223_Ala234del	p.L223_A234del	ENST00000367145	NM_033102.2	222	gcGCTGGGCCCCACCGAGCCAGCAGAAGGGCTGTCGGCc/gcc	0	1	1	UPI0000039836	0		ENST00000367145		ENSG00000158715	8642	0.116	10			HGNC	p.222_234del	rs72434280,COSM111686	SLC45A3	0.00234	deletion				0.00197		0,1	ENST00000367145	protein_coding		-:0.0023	Low_complexity_(Seg):seg,hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Superfamily_domains:SSF103473		ALGPTEPAEGLSA/A		-		962-997/3341	0.00433			Q658X7_HUMAN,A8K2U9_HUMAN	-:0.0937	-:0.0903	YES	SLC45A3,inframe_deletion,p.Leu223_Ala234del,ENST00000367145,NM_033102.2;SLC45A3,upstream_gene_variant,,ENST00000460934,;	0.0914	-:0.0343			0,1		MODERATE	666-701/1662		S45A3_HUMAN	0.0133	-:0.008	Transcript			common_variant	ENSP00000356113	0.0206	CCDS1458.1	0.0163	-:0.0051	1	
C4orf40	0	LGGM	GRCh37	4	71024493	71024493	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	35	3	.	.	ENST00000344526.5:c.524C>A	p.Ala175Glu	p.A175E	ENST00000344526	NM_214711.3	175	gCa/gAa	0	1	1	UPI0000036170	0	NA	ENST00000344526		ENSG00000187533	33193		38	0.345		HGNC	p.A175E		C4orf40		SNV							ENST00000502294	protein_coding	getma.org/?cm=var&var=hg19,4,71024493,C,A&fts=all		Low_complexity_(Seg):seg		A/E		A	neutral	713/3127		getma.org/?cm=msa&ty=f&p=CD040_HUMAN&rb=121&re=218&var=A175E	tolerated(0.2)				YES	C4orf40,missense_variant,p.Ala175Glu,ENST00000344526,NM_214711.3;C4orf40,missense_variant,p.Ala175Glu,ENST00000502294,;C4orf40,non_coding_transcript_exon_variant,,ENST00000502441,;C4orf40,missense_variant,p.Ala17Glu,ENST00000512173,;C4orf40,3_prime_UTR_variant,,ENST00000509633,;							MODERATE	524/660	A175E	CD040_HUMAN			Transcript		unknown(0)	.	ENSP00000343172		CCDS3535.1			1	
PRDM2	0	LGGM	GRCh37	1	14099679	14099679	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	13	3	.	.	ENST00000235372.7:c.618A>G	p.Ala206=	p.A206=	ENST00000235372	NM_012231.4	206	gcA/gcG	0	1	1	UPI000013C9CD	0		ENST00000235372		ENSG00000116731	9347		16			HGNC	p.A5A		PRDM2		SNV							ENST00000343137	protein_coding			PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4		A		G		1474/7957				S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,synonymous_variant,p.=,ENST00000235372,NM_012231.4;PRDM2,synonymous_variant,p.=,ENST00000311066,NM_015866.4;PRDM2,synonymous_variant,p.=,ENST00000413440,NM_001007257.2;PRDM2,synonymous_variant,p.=,ENST00000343137,;PRDM2,synonymous_variant,p.=,ENST00000503842,;PRDM2,synonymous_variant,p.=,ENST00000487453,;PRDM2,synonymous_variant,p.=,ENST00000505823,;PRDM2,synonymous_variant,p.=,ENST00000407521,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,non_coding_transcript_exon_variant,,ENST00000502727,;PRDM2,downstream_gene_variant,,ENST00000502724,;PRDM2,3_prime_UTR_variant,,ENST00000491134,;PRDM2,non_coding_transcript_exon_variant,,ENST00000491815,;							LOW	618/5157		PRDM2_HUMAN			Transcript			.	ENSP00000235372		CCDS150.1			1	
CASC4	0	LGGM	GRCh37	15	44581430	44581430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	9	3	.	.	ENST00000299957.6:c.203C>T	p.Ser68Leu	p.S68L	ENST00000299957	NM_138423.3	68	tCg/tTg	0	1	1	UPI0000140255	0	NA	ENST00000299957		ENSG00000166734	24892		12	1.75		HGNC	p.S68L		CASC4		SNV							ENST00000345795	protein_coding	getma.org/?cm=var&var=hg19,15,44581430,C,T&fts=all		hmmpanther:PTHR15896:SF7,hmmpanther:PTHR15896		S/L		T	low	502/3962		getma.org/?cm=msa&ty=f&p=CASC4_HUMAN&rb=1&re=417&var=S68L	tolerated(0.05)	H0YMR0_HUMAN,H0YKJ7_HUMAN			YES	CASC4,missense_variant,p.Ser68Leu,ENST00000299957,NM_138423.3;CASC4,missense_variant,p.Ser68Leu,ENST00000345795,NM_177974.2;CASC4,missense_variant,p.Ser68Leu,ENST00000360824,;CASC4,5_prime_UTR_variant,,ENST00000559222,;CASC4,non_coding_transcript_exon_variant,,ENST00000429162,;CASC4,missense_variant,p.Ser68Leu,ENST00000557945,;CASC4,synonymous_variant,p.=,ENST00000558735,;							MODERATE	203/1311	S68L	CASC4_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000299957		CCDS10108.1			1	
OR52M1	0	LGGM	GRCh37	11	4567288	4567288	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	27	3	.	.	ENST00000360213.1:c.868C>A	p.Leu290Ile	p.L290I	ENST00000360213	NM_001004137.1	290	Ctc/Atc	0	1	1	UPI0000041C62	0	NA	ENST00000360213		ENSG00000197790	15225		30	2.46		HGNC	p.L290I		OR52M1		SNV							ENST00000360213	protein_coding	getma.org/?cm=var&var=hg19,11,4567288,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF129,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/I		A	medium	868/954		getma.org/?cm=msa&ty=f&p=O52M1_HUMAN&rb=259&re=317&var=L290I	deleterious(0.02)				YES	OR52M1,missense_variant,p.Leu290Ile,ENST00000360213,NM_001004137.1;							MODERATE	868/954	L290I	O52M1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000353343		CCDS31353.1			1	
NELL1	0	LGGM	GRCh37	11	21250924	21250924	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	15	3	.	.	ENST00000357134.5:c.1473C>T	p.Ala491=	p.A491=	ENST00000357134	NM_201551.1	491	gcC/gcT	0	1	1	UPI000013E53D	0		ENST00000357134		ENSG00000165973	7750		18			HGNC	p.A519A	rs762139947	NELL1		SNV							ENST00000298925	protein_coding			PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,Pfam_domain:PF12947,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		A		T		1625/3022	3.00E-05			K9UUD5_HUMAN			YES	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,,ENST00000530672,;							LOW	1473/2433		NELL1_HUMAN			Transcript			.	ENSP00000349654	1.65E-05	CCDS7855.1			1	
GLRX2	0	LGGM	GRCh37	1	193066745	193066745	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	34	3	.	.	ENST00000367440.3:c.332A>G	p.Asp111Gly	p.D111G	ENST00000367440	NM_016066.4	111	gAt/gGt	0	1		UPI000006FC67	0	getma.org/pdb.php?prot=GLRX2_HUMAN&from=69&to=131&var=D110G	ENST00000367439		ENSG00000023572	16065		37	2.065		HGNC	p.D110G		GLRX2		SNV							ENST00000367439	protein_coding	getma.org/?cm=var&var=hg19,1,193066745,T,C&fts=all		Gene3D:3.40.30.10,Pfam_domain:PF00462,PROSITE_profiles:PS51354,hmmpanther:PTHR10168,Superfamily_domains:SSF52833,TIGRFAM_domain:TIGR02180		D/G		C	medium	378/701		getma.org/?cm=msa&ty=f&p=GLRX2_HUMAN&rb=69&re=131&var=D110G	deleterious(0)					GLRX2,missense_variant,p.Asp111Gly,ENST00000367440,NM_016066.4,NM_001243399.1;GLRX2,missense_variant,p.Asp110Gly,ENST00000367439,NM_197962.2;GLRX2,non_coding_transcript_exon_variant,,ENST00000472197,;							MODERATE	329/495	D110G	GLRX2_HUMAN			Transcript		benign(0.319)	.	ENSP00000356409		CCDS1381.1			1	
ITPR3	0	LGGM	GRCh37	6	33636901	33636901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	22	3	.	.	ENST00000374316.5:c.2157C>A	p.Asn719Lys	p.N719K	ENST00000374316		719	aaC/aaA	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		25	1.735		HGNC	p.N719K		ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33636901,C,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		N/K		A	low	3217/9870		getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=678&re=877&var=N719K	tolerated(0.2)	A6H8K3_HUMAN			YES	ITPR3,missense_variant,p.Asn719Lys,ENST00000374316,;ITPR3,missense_variant,p.Asn719Lys,ENST00000605930,NM_002224.3;							MODERATE	2157/8016	N719K	ITPR3_HUMAN			Transcript		benign(0.333)	.	ENSP00000363435		CCDS4783.1			1	
ABHD6	0	LGGM	GRCh37	3	58279474	58279474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	31	3	.	.	ENST00000478253.1:c.996C>A	p.Asn332Lys	p.N332K	ENST00000478253		332	aaC/aaA	0	1		UPI000003AF8F	0	NA	ENST00000295962		ENSG00000163686	21398		34	1.43		HGNC	p.N332K		ABHD6		SNV							ENST00000295962	protein_coding	getma.org/?cm=var&var=hg19,3,58279474,C,A&fts=all				N/K		A	low	1406/2393		getma.org/?cm=msa&ty=f&p=ABHD6_HUMAN&rb=290&re=337&var=N332K	tolerated(0.38)	C9JNE7_HUMAN,C9J010_HUMAN				ABHD6,missense_variant,p.Asn332Lys,ENST00000478253,;ABHD6,missense_variant,p.Asn332Lys,ENST00000295962,NM_020676.5;ABHD6,upstream_gene_variant,,ENST00000480457,;ABHD6,downstream_gene_variant,,ENST00000470440,;							MODERATE	996/1014	N332K	ABHD6_HUMAN			Transcript		benign(0.039)	.	ENSP00000295962		CCDS2887.1			1	
KDM6B	0	LGGM	GRCh37	17	7750942	7750942	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	3	3	.	.	ENST00000254846.5:c.1336C>A	p.Arg446=	p.R446=	ENST00000254846	NM_001080424.1	446	Cgg/Agg	0	1		UPI00001C1FC7	0		ENST00000448097		ENSG00000132510	29012		6			HGNC	p.R446R		KDM6B		SNV							ENST00000448097	protein_coding			hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5		R		A		1667/5422								KDM6B,synonymous_variant,p.=,ENST00000254846,NM_001080424.1;KDM6B,synonymous_variant,p.=,ENST00000448097,;KDM6B,downstream_gene_variant,,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,;							LOW	1336/4932		KDM6B_HUMAN			Transcript			.	ENSP00000412513					1	
ACO2	0	LGGM	GRCh37	22	41911945	41911945	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	18	3	.	.	ENST00000216254.4:c.835+24T>C		*279*	ENST00000216254	NM_001098.2			0	1	1	UPI000003CA3B	0		ENST00000216254		ENSG00000100412	118		21			HGNC	p.W287R		ACO2		SNV			1				ENST00000396512	protein_coding							C		-/2741				B4DZ08_HUMAN,B4DEC3_HUMAN			YES	ACO2,missense_variant,p.Trp287Arg,ENST00000396512,;ACO2,intron_variant,,ENST00000216254,NM_001098.2;ACO2,intron_variant,,ENST00000466237,;ACO2,intron_variant,,ENST00000481310,;ACO2,downstream_gene_variant,,ENST00000471094,;ACO2,non_coding_transcript_exon_variant,,ENST00000478010,;ACO2,downstream_gene_variant,,ENST00000482208,;							MODIFIER	-/2343		ACON_HUMAN			Transcript			.	ENSP00000216254		CCDS14017.1			1	
AIRE	0	LGGM	GRCh37	21	45706947	45706947	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	36	3	.	.	ENST00000291582.5:c.394A>T	p.Arg132Trp	p.R132W	ENST00000291582	NM_000383.3	132	Agg/Tgg	0	1	1	UPI0000030FA6	0	NA	ENST00000291582		ENSG00000160224	360		39	2.175		HGNC	p.R132W		AIRE		SNV			1				ENST00000291582	protein_coding	getma.org/?cm=var&var=hg19,21,45706947,A,T&fts=all		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15		R/W		T	medium	521/2257		getma.org/?cm=msa&ty=f&p=AIRE_HUMAN&rb=107&re=188&var=R132W	deleterious(0)				YES	AIRE,missense_variant,p.Arg132Trp,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,;							MODERATE	394/1638	R132W	AIRE_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000291582		CCDS13706.1			1	
TRAPPC2L	0	LGGM	GRCh37	16	88926395	88926395	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	47	3	.	.	ENST00000301021.3:c.374+15C>T		*125*	ENST00000301021				0	1	1	UPI0000070A2A	0		ENST00000301021		ENSG00000167515	30887		50			HGNC	p.S130F		TRAPPC2L		SNV							ENST00000565504	protein_coding							T		-/2215				H3BPS1_HUMAN			YES	TRAPPC2L,missense_variant,p.Ser130Phe,ENST00000565504,;TRAPPC2L,intron_variant,,ENST00000301021,;TRAPPC2L,intron_variant,,ENST00000564365,;TRAPPC2L,intron_variant,,ENST00000567895,NM_016209.3;TRAPPC2L,intron_variant,,ENST00000568583,;TRAPPC2L,intron_variant,,ENST00000561840,;TRAPPC2L,intron_variant,,ENST00000567312,;GALNS,upstream_gene_variant,,ENST00000268695,NM_000512.4;GALNS,upstream_gene_variant,,ENST00000542788,;PABPN1L,downstream_gene_variant,,ENST00000419291,NM_001080487.2;PABPN1L,downstream_gene_variant,,ENST00000427766,;PABPN1L,downstream_gene_variant,,ENST00000411789,;PABPN1L,downstream_gene_variant,,ENST00000378358,;PABPN1L,downstream_gene_variant,,ENST00000547152,;GALNS,upstream_gene_variant,,ENST00000569433,;GALNS,upstream_gene_variant,,ENST00000568311,;GALNS,upstream_gene_variant,,ENST00000562831,;GALNS,upstream_gene_variant,,ENST00000565364,;TRAPPC2L,non_coding_transcript_exon_variant,,ENST00000565309,;TRAPPC2L,intron_variant,,ENST00000565205,;TRAPPC2L,intron_variant,,ENST00000564404,;TRAPPC2L,intron_variant,,ENST00000562125,;TRAPPC2L,intron_variant,,ENST00000563514,;GALNS,upstream_gene_variant,,ENST00000567525,;GALNS,upstream_gene_variant,,ENST00000568613,;TRAPPC2L,downstream_gene_variant,,ENST00000564547,;TRAPPC2L,downstream_gene_variant,,ENST00000562792,;							MODIFIER	-/423		TPC2L_HUMAN			Transcript			.	ENSP00000301021		CCDS10971.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33640186	33640186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	22	3	.	.	ENST00000321505.4:c.4496G>T	p.Gly1499Val	p.G1499V	ENST00000321505		1499	gGa/gTa	0	1	1	UPI0000E59322	0	NA	ENST00000321505		ENSG00000110427	24836		25	2.28		HGNC	p.G1505V		KIAA1549L		SNV							ENST00000389726	protein_coding	getma.org/?cm=var&var=hg19,11,33640186,G,T&fts=all		Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		G/V		T	medium	4676/11678		getma.org/?cm=msa&ty=f&p=CK041_HUMAN&rb=930&re=1569&var=G1499V	deleterious(0)				YES	KIAA1549L,missense_variant,p.Gly1499Val,ENST00000321505,;KIAA1549L,missense_variant,p.Gly1505Val,ENST00000389726,NM_012194.2;							MODERATE	4496/5550	G1499V	K154L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000315295		CCDS44565.2			1	
TIE1	0	LGGM	GRCh37	1	43778076	43778076	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	16	3	.	.	ENST00000372476.3:c.1731C>T	p.Gly577=	p.G577=	ENST00000372476	NM_005424.4	577	ggC/ggT	0	1	1	UPI0000032E59	0		ENST00000372476		ENSG00000066056	11809		19			HGNC	p.G577G	rs764734223	TIE1		SNV							ENST00000372476	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265		G		T		1810/3882	1.55E-05			Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN			YES	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,;							LOW	1731/3417		TIE1_HUMAN			Transcript			.	ENSP00000361554	8.24E-06	CCDS482.1			1	
ZBTB5	0	LGGM	GRCh37	9	37442011	37442011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	39	3	.	.	ENST00000307750.4:c.538G>T	p.Asp180Tyr	p.D180Y	ENST00000307750	NM_014872.2	180	Gat/Tat	0	1	1	UPI000006FAE2	0	NA	ENST00000307750		ENSG00000168795	23836		42	0		HGNC	p.D180Y		ZBTB5		SNV							ENST00000307750	protein_coding	getma.org/?cm=var&var=hg19,9,37442011,C,A&fts=all		hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF68		D/Y		A	neutral	727/4627		getma.org/?cm=msa&ty=f&p=ZBTB5_HUMAN&rb=155&re=583&var=D180Y	deleterious(0)	Q5T942_HUMAN			YES	ZBTB5,missense_variant,p.Asp180Tyr,ENST00000307750,NM_014872.2;							MODERATE	538/2034	D180Y	ZBTB5_HUMAN			Transcript		benign(0.44)	.	ENSP00000307604		CCDS6610.1			1	
PVR	0	LGGM	GRCh37	19	45162174	45162174	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	41	3	.	.	ENST00000425690.3:c.1150+6C>A		p.X384_splice	ENST00000425690	NM_006505.3			0	1	1	UPI000004A2C1	0		ENST00000425690		ENSG00000073008	9705		44			HGNC	p.H386N		PVR		SNV							ENST00000406449	protein_coding							A		-/3325							YES	PVR,missense_variant,p.His386Asn,ENST00000406449,NM_001135770.1;PVR,splice_region_variant,,ENST00000425690,NM_006505.3;PVR,intron_variant,,ENST00000344956,NM_001135769.1;PVR,intron_variant,,ENST00000403059,NM_001135768.1;PVR,intron_variant,,ENST00000587785,;CEACAM19,upstream_gene_variant,,ENST00000587729,;CEACAM19,upstream_gene_variant,,ENST00000592472,;CEACAM19,upstream_gene_variant,,ENST00000585657,;CEACAM19,upstream_gene_variant,,ENST00000591979,;CEACAM19,upstream_gene_variant,,ENST00000592789,;CTB-171A8.1,intron_variant,,ENST00000590796,;PVR,splice_region_variant,,ENST00000187830,;							LOW	-/1254		PVR_HUMAN			Transcript			.	ENSP00000402060		CCDS12640.1			1	
PAMR1	0	LGGM	GRCh37	11	35453973	35453973	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	37	3	.	.	ENST00000278360.3:c.2145C>A	p.Ser715Arg	p.S715R	ENST00000278360	NM_015430.2	715	agC/agA	0	1	1	UPI000013DB70	0	getma.org/pdb.php?prot=PAMR1_HUMAN&from=452&to=715&var=S698R	ENST00000278360		ENSG00000149090	24554		40	0.23		HGNC	p.S715R		PAMR1		SNV							ENST00000278360	protein_coding	getma.org/?cm=var&var=hg19,11,35453973,G,T&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF7,SMART_domains:SM00020,Superfamily_domains:SSF50494		S/R		T	neutral	2183/2786		getma.org/?cm=msa&ty=f&p=PAMR1_HUMAN&rb=452&re=715&var=S698R	tolerated(0.23)	E9PQ70_HUMAN			YES	PAMR1,missense_variant,p.Ser698Arg,ENST00000378880,NM_001001991.1;PAMR1,missense_variant,p.Ser658Arg,ENST00000532848,NM_001282675.1;PAMR1,missense_variant,p.Ser715Arg,ENST00000278360,NM_015430.2;PAMR1,missense_variant,p.Ser675Arg,ENST00000527605,;PAMR1,missense_variant,p.Ser587Arg,ENST00000378878,NM_001282676.1;PAMR1,downstream_gene_variant,,ENST00000531219,;							MODERATE	2145/2214	S698R	PAMR1_HUMAN			Transcript		benign(0.007)	.	ENSP00000278360		CCDS7898.1			1	
TTLL2	0	LGGM	GRCh37	6	167752248	167752248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	26	3	.	.	ENST00000239587.5:c.161T>C	p.Ile54Thr	p.I54T	ENST00000239587	NM_031949.4	54	aTc/aCc	0	1	1	UPI00001A3A8B	0	NA	ENST00000239587		ENSG00000120440	21211		29	-0.55		HGNC	p.I54T		TTLL2		SNV							ENST00000515138	protein_coding	getma.org/?cm=var&var=hg19,6,167752248,T,C&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90		I/T		C	neutral	249/2075		getma.org/?cm=msa&ty=f&p=TTLL2_HUMAN&rb=1&re=130&var=I54T	tolerated_low_confidence(0.94)				YES	TTLL2,missense_variant,p.Ile54Thr,ENST00000239587,NM_031949.4;TTLL2,missense_variant,p.Ile54Thr,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;							MODERATE	161/1779	I54T	TTLL2_HUMAN			Transcript		benign(0)	.	ENSP00000239587		CCDS5301.1			1	
RP4-806M20.3	0	LGGM	GRCh37	20	57415524	57415524	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	37	3	.	.	ENST00000424094.2:n.819+1468G>T		*273*	ENST00000424094				0	1			0		ENST00000601795		ENSG00000268333			40		3940	Clone_based_vega_gene	p.S121S		RP4-806M20.3		SNV							ENST00000371075	lincRNA							A		-/1153							YES	GNAS,synonymous_variant,p.=,ENST00000313949,;GNAS,synonymous_variant,p.=,ENST00000371075,NM_016592.2;GNAS,synonymous_variant,p.=,ENST00000371098,;GNAS,synonymous_variant,p.=,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000419558,;RP4-806M20.3,upstream_gene_variant,,ENST00000601795,;GNAS-AS1,non_coding_transcript_exon_variant,,ENST00000443966,;GNAS-AS1,intron_variant,,ENST00000424094,;GNAS-AS1,intron_variant,,ENST00000598163,;GNAS,upstream_gene_variant,,ENST00000491348,;GNAS,upstream_gene_variant,,ENST00000472183,;GNAS,upstream_gene_variant,,ENST00000493744,;GNAS,upstream_gene_variant,,ENST00000482112,;GNAS,upstream_gene_variant,,ENST00000490374,;GNAS,upstream_gene_variant,,ENST00000467227,;GNAS,upstream_gene_variant,,ENST00000462499,;							MODIFIER						Transcript			.						1	
ARHGDIB	0	LGGM	GRCh37	12	15095624	15095624	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	36	3	.	.	ENST00000228945.4:c.438T>C	p.Tyr146=	p.Y146=	ENST00000228945	NM_001175.4	146	taT/taC	0	1	1	UPI0000030441	0		ENST00000228945		ENSG00000111348	679		39			HGNC	p.Y146Y		ARHGDIB		SNV							ENST00000541644	protein_coding			Gene3D:2.70.50.30,Pfam_domain:PF02115,Prints_domain:PR00492,hmmpanther:PTHR10980,hmmpanther:PTHR10980:SF15,Superfamily_domains:SSF81296		Y		G		583/1256				F5H6Q0_HUMAN,F5H3P3_HUMAN,F5H2R5_HUMAN			YES	ARHGDIB,synonymous_variant,p.=,ENST00000228945,NM_001175.4;ARHGDIB,synonymous_variant,p.=,ENST00000536592,;ARHGDIB,synonymous_variant,p.=,ENST00000541644,;ARHGDIB,synonymous_variant,p.=,ENST00000541546,;ARHGDIB,synonymous_variant,p.=,ENST00000545895,;ERP27,upstream_gene_variant,,ENST00000266397,NM_152321.2;ARHGDIB,non_coding_transcript_exon_variant,,ENST00000539131,;ARHGDIB,downstream_gene_variant,,ENST00000535676,;							LOW	438/606		GDIR2_HUMAN			Transcript			.	ENSP00000228945		CCDS8671.1			1	
PAM	0	LGGM	GRCh37	5	102286474	102286474	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	33	3	.	.	ENST00000304400.7:c.855T>G	p.Ala285=	p.A285=	ENST00000304400		285	gcT/gcG	0	1		UPI0000001BB7	0		ENST00000438793		ENSG00000145730	8596		36			HGNC	p.A285A		PAM		SNV							ENST00000348126	protein_coding			Superfamily_domains:SSF49742,Gene3D:2.60.120.230,Pfam_domain:PF03712,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13		A		G		1325/5432				D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN				PAM,synonymous_variant,p.=,ENST00000438793,NM_001177306.1,NM_000919.3,NM_138766.2;PAM,synonymous_variant,p.=,ENST00000348126,NM_138821.2;PAM,synonymous_variant,p.=,ENST00000274392,;PAM,synonymous_variant,p.=,ENST00000346918,NM_138822.2;PAM,synonymous_variant,p.=,ENST00000304400,;PAM,synonymous_variant,p.=,ENST00000455264,;PAM,synonymous_variant,p.=,ENST00000379799,;PAM,5_prime_UTR_variant,,ENST00000379787,;PAM,downstream_gene_variant,,ENST00000509636,;PAM,downstream_gene_variant,,ENST00000502472,;PAM,downstream_gene_variant,,ENST00000506260,;PAM,3_prime_UTR_variant,,ENST00000345721,;							LOW	855/2922		AMD_HUMAN			Transcript			.	ENSP00000396493		CCDS54885.1			1	
H3F3C	0	LGGM	GRCh37	12	31944953	31944953	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	30	3	.	.	ENST00000340398.3:c.148G>T	p.Glu50Ter	p.E50*	ENST00000340398	NM_001013699.2	50	Gag/Tag	0	1	1	UPI0000185FBF	0	NA	ENST00000340398		ENSG00000188375	33164		33	0		HGNC	p.E50X		H3F3C		SNV							ENST00000340398	protein_coding	getma.org/?cm=var&var=hg19,12,31944953,C,A&fts=all		Gene3D:1.10.20.10,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113		E/*		A	NA	223/1053		NA					YES	H3F3C,stop_gained,p.Glu50Ter,ENST00000340398,NM_001013699.2;							HIGH	148/408	E50*	H3C_HUMAN			Transcript			.	ENSP00000339835		CCDS31769.1			1	
EP300	0	LGGM	GRCh37	22	41574666	41574666	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	26	3	.	.	ENST00000263253.7:c.6951G>A	p.Arg2317=	p.R2317=	ENST00000263253	NM_001429.3	2317	cgG/cgA	0	1	1	UPI00001AE876	0		ENST00000263253		ENSG00000100393	3373	0.000173	29			HGNC	p.R2317R	rs139551099	EP300	0.00981	SNV	A:0		1				ENST00000263253	protein_coding		A:0	Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4		R	A:0.0005	A		8170/9585	0.00012			B5A250_HUMAN	A:0	A:0.0099	YES	EP300,synonymous_variant,p.=,ENST00000263253,NM_001429.3;RP1-85F18.5,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;	0.00797	A:0.0050					LOW	6951/7245		EP300_HUMAN		A:0	Transcript			common_variant	ENSP00000263253	0.002	CCDS14010.1	0.00221	A:0.0153	1	
TCF12	0	LGGM	GRCh37	15	57565321	57565321	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	44	4	.	.	ENST00000438423.2:c.1839C>T	p.Arg613=	p.R613=	ENST00000438423	NM_207037.1	613	cgC/cgT	0	1		UPI000003B45E	0		ENST00000267811		ENSG00000140262	11623		48			HGNC	p.R353R		TCF12		SNV			1				ENST00000537840	protein_coding			PROSITE_profiles:PS50888,hmmpanther:PTHR11793:SF11,hmmpanther:PTHR11793,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459		R		T		2071/6061				Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN				TCF12,synonymous_variant,p.=,ENST00000267811,NM_003205.3,NM_207038.1;TCF12,synonymous_variant,p.=,ENST00000438423,NM_207037.1,NM_207036.1;TCF12,synonymous_variant,p.=,ENST00000452095,;TCF12,synonymous_variant,p.=,ENST00000333725,;TCF12,synonymous_variant,p.=,ENST00000557843,;TCF12,synonymous_variant,p.=,ENST00000343827,NM_207040.1;TCF12,synonymous_variant,p.=,ENST00000559609,;TCF12,synonymous_variant,p.=,ENST00000543579,;TCF12,synonymous_variant,p.=,ENST00000537840,;TCF12,synonymous_variant,p.=,ENST00000559703,;TCF12,synonymous_variant,p.=,ENST00000559710,;TCF12,non_coding_transcript_exon_variant,,ENST00000560190,;TCF12,non_coding_transcript_exon_variant,,ENST00000561449,;TCF12,non_coding_transcript_exon_variant,,ENST00000561420,;							LOW	1767/2049		HTF4_HUMAN			Transcript			.	ENSP00000267811		CCDS10159.1			1	
PCDH9	0	LGGM	GRCh37	13	67801961	67801961	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	62	4	.	.	ENST00000544246.1:c.612G>T	p.Leu204=	p.L204=	ENST00000544246	NM_203487.2	204	ctG/ctT	0	1		UPI00001FCE90	0		ENST00000377865		ENSG00000184226	8661		66			HGNC	p.L204L		PCDH9		SNV							ENST00000377861	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		A		747/5667								PCDH9,synonymous_variant,p.=,ENST00000544246,NM_203487.2;PCDH9,synonymous_variant,p.=,ENST00000456367,NM_020403.4;PCDH9,synonymous_variant,p.=,ENST00000377865,;PCDH9,synonymous_variant,p.=,ENST00000377861,;PCDH9,synonymous_variant,p.=,ENST00000328454,;							LOW	612/3714		PCDH9_HUMAN			Transcript			.	ENSP00000367096		CCDS9444.1			1	
ANKRD17	0	LGGM	GRCh37	4	74007461	74007461	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	20	4	.	.	ENST00000358602.4:c.2329A>G	p.Lys777Glu	p.K777E	ENST00000358602	NM_032217.3	777	Aaa/Gaa	0	1	1	UPI00002263B0	0	NA	ENST00000358602		ENSG00000132466	23575		24	0.975		HGNC	p.K777E		ANKRD17		SNV							ENST00000358602	protein_coding	getma.org/?cm=var&var=hg19,4,74007461,T,C&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206		K/E		C	low	2446/10784		getma.org/?cm=msa&ty=f&p=ANR17_HUMAN&rb=727&re=926&var=K777E					YES	ANKRD17,missense_variant,p.Lys777Glu,ENST00000358602,NM_032217.3;ANKRD17,missense_variant,p.Lys662Glu,ENST00000558247,;ANKRD17,missense_variant,p.Lys664Glu,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Lys777Glu,ENST00000330838,NM_198889.1;ANKRD17,missense_variant,p.Lys145Glu,ENST00000561029,;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,missense_variant,p.Lys595Glu,ENST00000560372,;							MODERATE	2329/7812	K777E	ANR17_HUMAN			Transcript		possibly_damaging(0.757)	.	ENSP00000351416		CCDS34004.1			1	
DNAH1	0	LGGM	GRCh37	3	52403893	52403893	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	33	4	.	.	ENST00000420323.2:c.5996C>A	p.Thr1999Lys	p.T1999K	ENST00000420323	NM_015512.4	1999	aCa/aAa	0	1	1	UPI0001AE79D6	0	getma.org/pdb.php?prot=DYH1_HUMAN&from=1857&to=2003&var=T1999K	ENST00000420323		ENSG00000114841	2940		37	4.685		HGNC	p.T1999K		DNAH1		SNV			1				ENST00000420323	protein_coding	getma.org/?cm=var&var=hg19,3,52403893,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF07728,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137,Superfamily_domains:SSF52540		T/K		A	high	6257/13104		getma.org/?cm=msa&ty=f&p=DYH1_HUMAN&rb=1857&re=2003&var=T1999K					YES	DNAH1,missense_variant,p.Thr1999Lys,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;RP11-168J18.6,upstream_gene_variant,,ENST00000495716,;							MODERATE	5996/12798	T1999K	DYH1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401514		CCDS46842.1			1	
SMARCA5	0	LGGM	GRCh37	4	144466702	144466702	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	28	4	.	.	ENST00000283131.3:c.2363A>G	p.Glu788Gly	p.E788G	ENST00000283131	NM_003601.3	788	gAa/gGa	0	1	1	UPI000006E693	0	getma.org/pdb.php?prot=SMCA5_HUMAN&from=743&to=841&var=E788G	ENST00000283131		ENSG00000153147	11101		32	3.67		HGNC	p.E788G		SMARCA5		SNV			1				ENST00000283131	protein_coding	getma.org/?cm=var&var=hg19,4,144466702,A,G&fts=all		Superfamily_domains:0041827,Pfam_domain:PF09110,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF575		E/G		G	high	2825/7923		getma.org/?cm=msa&ty=f&p=SMCA5_HUMAN&rb=743&re=841&var=E788G	deleterious(0)	Q4W5H1_HUMAN,Q4W5G3_HUMAN			YES	SMARCA5,missense_variant,p.Glu788Gly,ENST00000283131,NM_003601.3;SMARCA5,downstream_gene_variant,,ENST00000515531,;SMARCA5,upstream_gene_variant,,ENST00000508573,;							MODERATE	2363/3159	E788G	SMCA5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000283131		CCDS3761.1			1	
RER1	0	LGGM	GRCh37	1	2333733	2333733	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	30	4	.	.	ENST00000605895.1:c.453G>T	p.Val151=	p.V151=	ENST00000605895	NM_007033.4	151	gtG/gtT	0	1		UPI0000000C69	0		ENST00000488353		ENSG00000157916	30309		34			HGNC	p.X188L		RER1		SNV							ENST00000378512	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10743,Pfam_domain:PF03248,PIRSF_domain:PIRSF016013		V		T		2239/2469				Q5T094_HUMAN,Q5T092_HUMAN				RER1,stop_lost,p.Ter188LeuextTer11,ENST00000378512,;RER1,stop_lost,p.Ter118LeuextTer11,ENST00000378513,;RER1,stop_lost,p.Ter118LeuextTer?,ENST00000378518,;RER1,synonymous_variant,p.=,ENST00000605895,NM_007033.4;RER1,synonymous_variant,p.=,ENST00000488353,;RER1,synonymous_variant,p.=,ENST00000306256,;RER1,synonymous_variant,p.=,ENST00000443438,;PEX10,downstream_gene_variant,,ENST00000288774,NM_153818.1;PEX10,downstream_gene_variant,,ENST00000447513,NM_002617.3;PEX10,downstream_gene_variant,,ENST00000507596,;RER1,non_coding_transcript_exon_variant,,ENST00000462129,;PEX10,downstream_gene_variant,,ENST00000510434,;							LOW	453/591		RER1_HUMAN			Transcript			.	ENSP00000464222		CCDS41232.1			1	
FBXO10	0	LGGM	GRCh37	9	37541587	37541587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	21	4	.	.	ENST00000432825.2:c.179G>T	p.Trp60Leu	p.W60L	ENST00000432825	NM_012166.2	60	tGg/tTg	0	1	1	UPI00001C1EC6	0	NA	ENST00000432825		ENSG00000147912	13589		25	1.1		HGNC	p.W60L		FBXO10		SNV							ENST00000276960	protein_coding	getma.org/?cm=var&var=hg19,9,37541587,C,A&fts=all		hmmpanther:PTHR22990,Gene3D:1.20.1280.50,Superfamily_domains:SSF81383		W/L		A	low	228/4575		getma.org/?cm=msa&ty=f&p=FBX10_HUMAN&rb=49&re=248&var=W60L	deleterious(0)	Q08AL4_HUMAN,F5GXN9_HUMAN			YES	FBXO10,missense_variant,p.Trp60Leu,ENST00000432825,NM_012166.2;FBXO10,missense_variant,p.Trp60Leu,ENST00000541607,;FBXO10,intron_variant,,ENST00000541829,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,missense_variant,p.Trp60Leu,ENST00000276960,;RP11-613M10.8,3_prime_UTR_variant,,ENST00000537239,;							MODERATE	179/2871	W60L	FBX10_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000403802		CCDS47966.1			1	
LPHN2	0	LGGM	GRCh37	1	82409025	82409025	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	52	4	.	.	ENST00000319517.6:c.770G>A	p.Arg257Lys	p.R257K	ENST00000319517	NM_012302.2	257	aGa/aAa	0	1		UPI0000458983	0	NA	ENST00000370717		ENSG00000117114	18582		56	0.955		HGNC	p.R257K	rs762913159	LPHN2		SNV							ENST00000370717	protein_coding	getma.org/?cm=var&var=hg19,1,82409025,G,A&fts=all		PROSITE_profiles:PS51132,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF02191,SMART_domains:SM00284		R/K		A	low	986/5918	1.50E-05	getma.org/?cm=msa&ty=f&p=LPHN2_HUMAN&rb=139&re=394&var=R257K	tolerated(0.13)	Q9UJ49_HUMAN				LPHN2,missense_variant,p.Arg257Lys,ENST00000370728,;LPHN2,missense_variant,p.Arg257Lys,ENST00000370730,;LPHN2,missense_variant,p.Arg257Lys,ENST00000370717,;LPHN2,missense_variant,p.Arg257Lys,ENST00000394879,;LPHN2,missense_variant,p.Arg257Lys,ENST00000271029,;LPHN2,missense_variant,p.Arg257Lys,ENST00000335786,;LPHN2,missense_variant,p.Arg257Lys,ENST00000370715,;LPHN2,missense_variant,p.Arg257Lys,ENST00000319517,NM_012302.2;LPHN2,missense_variant,p.Arg257Lys,ENST00000370713,;LPHN2,missense_variant,p.Arg257Lys,ENST00000370725,;LPHN2,missense_variant,p.Arg257Lys,ENST00000370723,;LPHN2,missense_variant,p.Arg257Lys,ENST00000370727,;LPHN2,missense_variant,p.Arg261Lys,ENST00000370721,;LPHN2,missense_variant,p.Arg257Lys,ENST00000359929,;LPHN2,missense_variant,p.Arg125Lys,ENST00000449420,;LPHN2,intron_variant,,ENST00000469377,;							MODERATE	770/4425	R257K	LPHN2_HUMAN			Transcript		benign(0.011)	.	ENSP00000359752	8.24E-06				1	
PBRM1	0	LGGM	GRCh37	3	52621518	52621518	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	15	4	.	.	ENST00000394830.3:c.2966-67T>A		*989*	ENST00000394830	NM_018313.4			0	1		UPI000019A59F	0	getma.org/pdb.php?prot=PB1_HUMAN&from=956&to=1074&var=W992R	ENST00000296302		ENSG00000163939	30064		19	1.205		HGNC	p.W992R		PBRM1		SNV			1				ENST00000409057	protein_coding	getma.org/?cm=var&var=hg19,3,52621518,A,T&fts=all		Pfam_domain:PF01426,PROSITE_profiles:PS51038,hmmpanther:PTHR16062,SMART_domains:SM00439		W/R		T	low	2976/5145		getma.org/?cm=msa&ty=f&p=PB1_HUMAN&rb=956&re=1074&var=W992R	deleterious(0)	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN				PBRM1,missense_variant,p.Trp960Arg,ENST00000356770,;PBRM1,missense_variant,p.Trp992Arg,ENST00000296302,;PBRM1,missense_variant,p.Trp1007Arg,ENST00000409114,;PBRM1,missense_variant,p.Trp992Arg,ENST00000409057,;PBRM1,missense_variant,p.Trp1007Arg,ENST00000409767,;PBRM1,missense_variant,p.Trp992Arg,ENST00000337303,;PBRM1,missense_variant,p.Trp991Arg,ENST00000423351,;PBRM1,missense_variant,p.Trp950Arg,ENST00000446103,;PBRM1,intron_variant,,ENST00000394830,NM_018313.4;PBRM1,intron_variant,,ENST00000410007,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;PBRM1,non_coding_transcript_exon_variant,,ENST00000462207,;							MODERATE	2974/5070	W992R	PB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296302					1	
CIT	0	LGGM	GRCh37	12	120156140	120156140	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	12	4	.	.	ENST00000392521.2:c.4078G>A	p.Ala1360Thr	p.A1360T	ENST00000392521	NM_001206999.1	1360	Gcc/Acc	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		16	1.04		HGNC	p.A1318T	rs767158335	CIT	6.07E-05	SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120156140,C,T&fts=all		hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		A/T		T	low	4005/8578	4.51E-05	getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=1167&re=1366&var=A1318T	tolerated(0.1)					CIT,missense_variant,p.Ala1360Thr,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Ala1318Thr,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Ala931Thr,ENST00000392520,;CIT,downstream_gene_variant,,ENST00000536325,;MIR1178,upstream_gene_variant,,ENST00000408396,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000544588,;CIT,upstream_gene_variant,,ENST00000543239,;CIT,upstream_gene_variant,,ENST00000536008,;							MODERATE	3952/6084	A1318T	CTRO_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000261833	3.29E-05	CCDS9192.1			1	
ZSWIM8	0	LGGM	GRCh37	10	75554320	75554320	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	87	4	.	.	ENST00000398706.2:c.2831G>A	p.Arg944Gln	p.R944Q	ENST00000398706	NM_015037.3	944	cGg/cAg	0	1		UPI0001593B39	0	NA	ENST00000605216		ENSG00000214655	23528		91	2.005		HGNC	p.R944Q		ZSWIM8		SNV							ENST00000398706	protein_coding	getma.org/?cm=var&var=hg19,10,75554320,G,A&fts=all		hmmpanther:PTHR22619		R/Q		A	medium	3033/6004		getma.org/?cm=msa&ty=f&p=K0913_HUMAN&rb=634&re=1835&var=R939Q	tolerated(0.23)					ZSWIM8,missense_variant,p.Arg944Gln,ENST00000604729,;ZSWIM8,missense_variant,p.Arg944Gln,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Arg939Gln,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Arg906Gln,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Arg939Gln,ENST00000604524,;ZSWIM8,missense_variant,p.Arg279Gln,ENST00000603187,;ZSWIM8,missense_variant,p.Arg214Gln,ENST00000412198,;ZSWIM8,missense_variant,p.Arg205Gln,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,,ENST00000603195,;ZSWIM8,upstream_gene_variant,,ENST00000604165,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,missense_variant,p.Arg937Gln,ENST00000433366,;ZSWIM8,missense_variant,p.Arg558Gln,ENST00000492395,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;RP11-574K11.31,downstream_gene_variant,,ENST00000603706,;							MODERATE	2816/5514	R939Q	ZSWM8_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000474748		CCDS60560.1			1	
SUOX	0	LGGM	GRCh37	12	56397563	56397563	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	58	4	.	.	ENST00000394109.3:c.390G>T	p.Gly130=	p.G130=	ENST00000394109		130	ggG/ggT	0	1		UPI00001FC4A1	0		ENST00000266971		ENSG00000139531	11460		62			HGNC	p.G130G		SUOX		SNV			1				ENST00000548274	protein_coding			Gene3D:3.10.120.10,Pfam_domain:PF00173,Prints_domain:PR00363,PROSITE_profiles:PS50255,hmmpanther:PTHR19372,hmmpanther:PTHR19372:SF2,Superfamily_domains:SSF55856		G		T		618/2364				F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN				SUOX,synonymous_variant,p.=,ENST00000394109,;SUOX,synonymous_variant,p.=,ENST00000394115,NM_000456.2;SUOX,synonymous_variant,p.=,ENST00000266971,NM_001032386.1;SUOX,synonymous_variant,p.=,ENST00000548274,;SUOX,synonymous_variant,p.=,ENST00000356124,NM_001032387.1;SUOX,synonymous_variant,p.=,ENST00000546833,;SUOX,intron_variant,,ENST00000551841,;IKZF4,upstream_gene_variant,,ENST00000262032,;SUOX,downstream_gene_variant,,ENST00000547586,;SUOX,downstream_gene_variant,,ENST00000552258,;SUOX,non_coding_transcript_exon_variant,,ENST00000550478,;SUOX,non_coding_transcript_exon_variant,,ENST00000551698,;SUOX,non_coding_transcript_exon_variant,,ENST00000550340,;SUOX,non_coding_transcript_exon_variant,,ENST00000552363,;IKZF4,upstream_gene_variant,,ENST00000548601,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,synonymous_variant,p.=,ENST00000550065,;SUOX,downstream_gene_variant,,ENST00000546712,;SUOX,downstream_gene_variant,,ENST00000552813,;							LOW	390/1638		SUOX_HUMAN			Transcript			.	ENSP00000266971		CCDS8901.2			1	
JMJD1C	0	LGGM	GRCh37	10	64967367	64967367	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	79	4	.	.	ENST00000399262.2:c.4062C>G	p.Ile1354Met	p.I1354M	ENST00000399262	NM_032776.1	1354	atC/atG	0	1	1	UPI0000198BEF	0	getma.org/pdb.php?prot=JHD2C_HUMAN&from=251&to=1699&var=I1354M	ENST00000399262		ENSG00000171988	12313		83	1.5		HGNC	p.I1135M		JMJD1C		SNV			1				ENST00000402544	protein_coding	getma.org/?cm=var&var=hg19,10,64967367,G,C&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6		I/M		C	low	4281/8666		getma.org/?cm=msa&ty=f&p=JHD2C_HUMAN&rb=251&re=1699&var=I1354M	deleterious_low_confidence(0.01)				YES	JMJD1C,missense_variant,p.Ile1354Met,ENST00000399262,NM_032776.1;JMJD1C,missense_variant,p.Ile1135Met,ENST00000399251,;JMJD1C,missense_variant,p.Ile1135Met,ENST00000402544,NM_004241.2;JMJD1C,missense_variant,p.Ile1172Met,ENST00000542921,NM_001282948.1;JMJD1C,missense_variant,p.Ile40Met,ENST00000327520,;							MODERATE	4062/7623	I1354M	JHD2C_HUMAN			Transcript		benign(0.052)	.	ENSP00000382204		CCDS41532.1			1	
FLII	0	LGGM	GRCh37	17	18150626	18150626	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	38	4	.	.	ENST00000327031.4:c.2533G>T	p.Asp845Tyr	p.D845Y	ENST00000327031	NM_002018.3	845	Gac/Tac	0	1	1	UPI0000001284	0	NA	ENST00000327031		ENSG00000177731	3750		42	2.67		HGNC	p.D759Y		FLII		SNV			1				ENST00000379450	protein_coding	getma.org/?cm=var&var=hg19,17,18150626,C,A&fts=all		Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF16,Superfamily_domains:SSF55753		D/Y		A	medium	2759/4338		getma.org/?cm=msa&ty=f&p=FLII_HUMAN&rb=833&re=1032&var=D845Y	deleterious(0)	K7EP37_HUMAN,K7EP27_HUMAN			YES	FLII,missense_variant,p.Asp845Tyr,ENST00000327031,NM_002018.3;FLII,missense_variant,p.Asp759Tyr,ENST00000379450,;FLII,missense_variant,p.Asp790Tyr,ENST00000545457,NM_001256265.1;FLII,missense_variant,p.Asp834Tyr,ENST00000579294,NM_001256264.1;FLII,intron_variant,,ENST00000578558,;FLII,intron_variant,,ENST00000577485,;LLGL1,downstream_gene_variant,,ENST00000316843,NM_004140.3;FLII,upstream_gene_variant,,ENST00000577398,;FLII,downstream_gene_variant,,ENST00000488932,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,non_coding_transcript_exon_variant,,ENST00000459958,;FLII,non_coding_transcript_exon_variant,,ENST00000577402,;LLGL1,downstream_gene_variant,,ENST00000479155,;FLII,downstream_gene_variant,,ENST00000461110,;FLII,downstream_gene_variant,,ENST00000488221,;FLII,downstream_gene_variant,,ENST00000496727,;FLII,upstream_gene_variant,,ENST00000465046,;FLII,upstream_gene_variant,,ENST00000580453,;FLII,upstream_gene_variant,,ENST00000487693,;FLII,upstream_gene_variant,,ENST00000493600,;FLII,upstream_gene_variant,,ENST00000581858,;FLII,upstream_gene_variant,,ENST00000474265,;FLII,upstream_gene_variant,,ENST00000487369,;FLII,upstream_gene_variant,,ENST00000580966,;FLII,upstream_gene_variant,,ENST00000493401,;							MODERATE	2533/3810	D845Y	FLII_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324573		CCDS11192.1			1	
KDM3A	0	LGGM	GRCh37	2	86697496	86697496	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	42	4	.	.	ENST00000409556.1:c.1689C>T	p.Asp563=	p.D563=	ENST00000409556		563	gaC/gaT	0	1		UPI0000161FAE	0		ENST00000312912		ENSG00000115548	20815		46			HGNC	p.D563D		KDM3A		SNV							ENST00000441719	protein_coding			hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7		D		T		2016/4884				C9JC73_HUMAN,C9J7Q7_HUMAN				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,;KDM3A,downstream_gene_variant,,ENST00000488971,;							LOW	1689/3966		KDM3A_HUMAN			Transcript			.	ENSP00000323659		CCDS1990.1			1	
ZNF625	0	LGGM	GRCh37	19	12256499	12256499	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	41	4	.	.	ENST00000439556.2:c.732G>A	p.Glu244=	p.E244=	ENST00000439556		244	gaG/gaA	0	1	1	UPI0000EE608F	0		ENST00000439556		ENSG00000257591	30571		45			HGNC	p.E178E		ZNF625		SNV							ENST00000355738	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF73,Superfamily_domains:SSF57667		E		T		903/1322							YES	ZNF625,synonymous_variant,p.=,ENST00000355738,;ZNF625,synonymous_variant,p.=,ENST00000542938,;ZNF625,synonymous_variant,p.=,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,;							LOW	732/1119		ZN625_HUMAN			Transcript			.	ENSP00000394380		CCDS12269.2			1	
TNFRSF1B	0	LGGM	GRCh37	1	12252568	12252568	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	22	4	.	.	ENST00000376259.3:c.538A>T	p.Arg180Trp	p.R180W	ENST00000376259	NM_001066.2	180	Agg/Tgg	0	1	1	UPI000002FAE1	0	getma.org/pdb.php?prot=TNR1B_HUMAN&from=119&to=318&var=R180W	ENST00000376259		ENSG00000028137	11917		26	2.135		HGNC	p.R180W		TNFRSF1B		SNV							ENST00000376259	protein_coding	getma.org/?cm=var&var=hg19,1,12252568,A,T&fts=all		hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF108,Gene3D:2.10.50.10,SMART_domains:SM00208		R/W		T	medium	627/3683		getma.org/?cm=msa&ty=f&p=TNR1B_HUMAN&rb=119&re=318&var=R180W	deleterious(0)	Q9UIH2_HUMAN,Q9UIG9_HUMAN,Q6LBF2_HUMAN			YES	TNFRSF1B,missense_variant,p.Arg180Trp,ENST00000376259,NM_001066.2;TNFRSF1B,downstream_gene_variant,,ENST00000536782,;MIR4632,downstream_gene_variant,,ENST00000584158,;TNFRSF1B,non_coding_transcript_exon_variant,,ENST00000492361,;TNFRSF1B,non_coding_transcript_exon_variant,,ENST00000489921,;							MODERATE	538/1386	R180W	TNR1B_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000365435		CCDS145.1			1	
RBM39	0	LGGM	GRCh37	20	34320029	34320029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	65	4	.	.	ENST00000253363.6:c.130A>G	p.Ser44Gly	p.S44G	ENST00000253363		44	Agt/Ggt	0	1	1	UPI0000134418	0	NA	ENST00000253363		ENSG00000131051	15923		69	2.765		HGNC	p.S44G		RBM39		SNV							ENST00000361162	protein_coding	getma.org/?cm=var&var=hg19,20,34320029,T,C&fts=all		Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01622		S/G		C	medium	154/2488		getma.org/?cm=msa&ty=f&p=RBM39_HUMAN&rb=1&re=154&var=S44G	tolerated(0.08)	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN			YES	RBM39,missense_variant,p.Ser44Gly,ENST00000361162,NM_184234.2,NM_004902.3;RBM39,missense_variant,p.Ser44Gly,ENST00000253363,;RBM39,missense_variant,p.Ser44Gly,ENST00000528062,NM_001242599.1,NM_001242600.1;RBM39,missense_variant,p.Ser44Gly,ENST00000374038,;RBM39,missense_variant,p.Ser32Gly,ENST00000426951,;RBM39,missense_variant,p.Ser44Gly,ENST00000434927,;RBM39,5_prime_UTR_variant,,ENST00000407261,;RBM39,upstream_gene_variant,,ENST00000448303,;RBM39,downstream_gene_variant,,ENST00000397370,;RBM39,non_coding_transcript_exon_variant,,ENST00000442447,;RBM39,non_coding_transcript_exon_variant,,ENST00000487604,;RBM39,downstream_gene_variant,,ENST00000498280,;RBM39,missense_variant,p.Ser44Gly,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,3_prime_UTR_variant,,ENST00000412738,;RBM39,3_prime_UTR_variant,,ENST00000433027,;RBM39,3_prime_UTR_variant,,ENST00000416108,;RBM39,3_prime_UTR_variant,,ENST00000425184,;RBM39,3_prime_UTR_variant,,ENST00000455343,;RBM39,3_prime_UTR_variant,,ENST00000449489,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000477334,;RBM39,non_coding_transcript_exon_variant,,ENST00000481037,;RBM39,downstream_gene_variant,,ENST00000453310,;RBM39,downstream_gene_variant,,ENST00000416529,;							MODERATE	130/1593	S44G	RBM39_HUMAN			Transcript		benign(0)	.	ENSP00000253363		CCDS13266.1			1	
ZNF684	0	LGGM	GRCh37	1	41012502	41012502	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	14	4	.	.	ENST00000372699.3:c.507A>G	p.Lys169=	p.K169=	ENST00000372699	NM_152373.3	169	aaA/aaG	0	1	1	UPI00000437E3	0		ENST00000372699		ENSG00000117010	28418		18			HGNC	p.K169K		ZNF684		SNV							ENST00000372699	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF0,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667		K		G		758/2097							YES	ZNF684,synonymous_variant,p.=,ENST00000372699,NM_152373.3;ZNF684,downstream_gene_variant,,ENST00000372697,;ZNF684,downstream_gene_variant,,ENST00000372696,;ZNF684,non_coding_transcript_exon_variant,,ENST00000493756,;ZNF684,downstream_gene_variant,,ENST00000465152,;ZNF684,downstream_gene_variant,,ENST00000472043,;							LOW	507/1137		ZN684_HUMAN			Transcript			.	ENSP00000361784		CCDS454.1			1	
ANKRD7	0	LGGM	GRCh37	7	117876203	117876203	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	18	5	.	.	ENST00000265224.4:c.575+2T>C		p.X192_splice	ENST00000265224	NM_019644.3			0	1	1	UPI0000E826A8	0		ENST00000265224		ENSG00000106013	18588		23			HGNC	-	COSM1084508	ANKRD7		SNV						1	ENST00000357099	protein_coding							C		-/1298				Q9UPM1_HUMAN			YES	ANKRD7,splice_donor_variant,,ENST00000357099,;ANKRD7,splice_donor_variant,,ENST00000265224,NM_019644.3;ANKRD7,splice_donor_variant,,ENST00000417525,;ANKRD7,splice_donor_variant,,ENST00000433239,;ANKRD7,downstream_gene_variant,,ENST00000486422,;ANKRD7,splice_donor_variant,,ENST00000477532,;ANKRD7,upstream_gene_variant,,ENST00000490445,;					1		HIGH	575/765		ANKR7_HUMAN			Transcript			.	ENSP00000265224		CCDS43638.1			1	
ST3GAL5	0	LGGM	GRCh37	2	86088310	86088310	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	34	5	.	.	ENST00000377332.3:c.312T>C	p.His104=	p.H104=	ENST00000377332	NM_003896.3	104	caT/caC	0	1	1	UPI000015F319	0		ENST00000377332		ENSG00000115525	10872		39			HGNC	p.H104H		ST3GAL5		SNV			1				ENST00000525834	protein_coding			PIRSF_domain:PIRSF005557,hmmpanther:PTHR13713:SF5,hmmpanther:PTHR13713		H		G		421/2366				C9JYS9_HUMAN			YES	ST3GAL5,synonymous_variant,p.=,ENST00000377332,NM_003896.3;ST3GAL5,synonymous_variant,p.=,ENST00000393805,;ST3GAL5,synonymous_variant,p.=,ENST00000393808,NM_001042437.1;ST3GAL5,synonymous_variant,p.=,ENST00000525834,;ST3GAL5,synonymous_variant,p.=,ENST00000455892,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000484728,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461892,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000461199,;ST3GAL5,non_coding_transcript_exon_variant,,ENST00000473122,;ST3GAL5,downstream_gene_variant,,ENST00000490946,;ST3GAL5,synonymous_variant,p.=,ENST00000306262,;ST3GAL5,3_prime_UTR_variant,,ENST00000433665,;							LOW	312/1257		SIAT9_HUMAN			Transcript			.	ENSP00000366549		CCDS1986.2			1	
PALM2-AKAP2	0	LGGM	GRCh37	9	112900223	112900223	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	18	5	.	.	ENST00000374530.3:c.2399A>T	p.Gln800Leu	p.Q800L	ENST00000374530	NM_007203.4	800	cAg/cTg	0	1	1	UPI0000125755	0	NA	ENST00000374530		ENSG00000157654	33529		23	1.87		HGNC	p.Q800L		PALM2-AKAP2		SNV							ENST00000302798	protein_coding	getma.org/?cm=var&var=hg19,9,112900223,A,T&fts=all		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10,Pfam_domain:PF10522		Q/L		T	low	2579/7507		getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=545&re=602&var=Q569L	deleterious(0)				YES	PALM2-AKAP2,missense_variant,p.Gln800Leu,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Gln658Leu,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Gln800Leu,ENST00000302798,;AKAP2,missense_variant,p.Gln658Leu,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Gln800Leu,ENST00000555236,;AKAP2,missense_variant,p.Gln800Leu,ENST00000510514,;AKAP2,missense_variant,p.Gln569Leu,ENST00000259318,NM_001136562.2;AKAP2,missense_variant,p.Gln618Leu,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;							MODERATE	2399/3312	Q569L				Transcript		probably_damaging(0.912)	.	ENSP00000363654		CCDS35100.1			1	
GYLTL1B	0	LGGM	GRCh37	11	45949913	45949913	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	34	5	.	.	ENST00000531526.1:c.1940T>C	p.Leu647Pro	p.L647P	ENST00000531526	NM_152312.3	647	cTg/cCg	0	1		UPI000004B639	0	NA	ENST00000325468		ENSG00000165905	16522		39	3.59		HGNC	p.L616P		GYLTL1B		SNV							ENST00000529052	protein_coding	getma.org/?cm=var&var=hg19,11,45949913,T,C&fts=all		Pfam_domain:PF13896,hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF23		L/P		C	high	2045/2522		getma.org/?cm=msa&ty=f&p=LARG2_HUMAN&rb=495&re=702&var=L647P	deleterious(0)					GYLTL1B,missense_variant,p.Leu647Pro,ENST00000531526,NM_152312.3;GYLTL1B,missense_variant,p.Leu647Pro,ENST00000325468,;GYLTL1B,missense_variant,p.Leu647Pro,ENST00000401752,;GYLTL1B,missense_variant,p.Leu616Pro,ENST00000529052,;GYLTL1B,missense_variant,p.Leu616Pro,ENST00000536139,;GYLTL1B,intron_variant,,ENST00000531847,;PHF21A,downstream_gene_variant,,ENST00000257821,NM_001101802.1;PHF21A,downstream_gene_variant,,ENST00000323180,NM_016621.3;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,;							MODERATE	1940/2166	L647P	LARG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324570		CCDS31473.1			1	
KCNK5	0	LGGM	GRCh37	6	39162089	39162089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	26	5	.	.	ENST00000359534.3:c.490G>T	p.Val164Phe	p.V164F	ENST00000359534	NM_003740.3	164	Gtc/Ttc	0	1	1	UPI000003AFB5	0	getma.org/pdb.php?prot=KCNK5_HUMAN&from=160&to=251&var=V164F	ENST00000359534		ENSG00000164626	6280		31	0.895		HGNC	p.V164F		KCNK5		SNV							ENST00000359534	protein_coding	getma.org/?cm=var&var=hg19,6,39162089,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22,Gene3D:1.10.287.70,Superfamily_domains:SSF81324		V/F		A	low	829/3756		getma.org/?cm=msa&ty=f&p=KCNK5_HUMAN&rb=160&re=251&var=V164F	deleterious(0)				YES	KCNK5,missense_variant,p.Val164Phe,ENST00000359534,NM_003740.3;							MODERATE	490/1500	V164F	KCNK5_HUMAN			Transcript		benign(0.217)	.	ENSP00000352527		CCDS4841.1			1	
TRPS1	0	LGGM	GRCh37	8	116616804	116616804	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	40	5	.	.	ENST00000395715.3:c.1392G>T	p.Leu464=	p.L464=	ENST00000395715	NM_014112.2	464	ctG/ctT	0	1		UPI0000137646	0		ENST00000220888		ENSG00000104447	12340		45			HGNC	p.L451L		TRPS1		SNV			1				ENST00000519674	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,SMART_domains:SM00355		L		A		1513/5480								TRPS1,synonymous_variant,p.=,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,synonymous_variant,p.=,ENST00000220888,;TRPS1,synonymous_variant,p.=,ENST00000520276,NM_001282902.1;TRPS1,synonymous_variant,p.=,ENST00000519674,;TRPS1,intron_variant,,ENST00000519076,;TRPS1,intron_variant,,ENST00000517323,;							LOW	1353/3846		TRPS1_HUMAN			Transcript			.	ENSP00000220888					1	
TSSK4	0	LGGM	GRCh37	14	24675205	24675205	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	47	5	.	.	ENST00000339917.5:c.76G>T	p.Glu26Ter	p.E26*	ENST00000339917	NM_001184739.1	26	Gag/Tag	0	1		UPI000004673A	0	NA	ENST00000287913		ENSG00000139908	19825		52	0		HGNC	p.E26X		TSSK4		SNV							ENST00000339917	protein_coding	getma.org/?cm=var&var=hg19,14,24675205,G,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/*		T	NA	244/1257		NA						TSSK4,stop_gained,p.Glu26Ter,ENST00000339917,NM_001184739.1,NM_174944.3;TSSK4,stop_gained,p.Glu26Ter,ENST00000287913,;TSSK4,stop_gained,p.Glu21Ter,ENST00000555092,;TSSK4,stop_gained,p.Glu26Ter,ENST00000428351,;TM9SF1,intron_variant,,ENST00000556387,;TM9SF1,intron_variant,,ENST00000530611,;TSSK4,intron_variant,,ENST00000556621,;CHMP4A,downstream_gene_variant,,ENST00000347519,NM_014169.3;CHMP4A,downstream_gene_variant,,ENST00000530996,;CHMP4A,downstream_gene_variant,,ENST00000609024,;CHMP4A,downstream_gene_variant,,ENST00000533011,;TSSK4,upstream_gene_variant,,ENST00000553766,;CHMP4A,downstream_gene_variant,,ENST00000542700,;TSSK4,intron_variant,,ENST00000554420,;AL136419.6,downstream_gene_variant,,ENST00000565988,;CHMP4A,downstream_gene_variant,,ENST00000533523,;CHMP4A,downstream_gene_variant,,ENST00000552620,;CHMP4A,downstream_gene_variant,,ENST00000534106,;CHMP4A,downstream_gene_variant,,ENST00000524955,;							HIGH	76/987	E26*	TSSK4_HUMAN			Transcript			.	ENSP00000287913		CCDS9618.1			1	
SND1	0	LGGM	GRCh37	7	127725807	127725807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	42	5	.	.	ENST00000354725.3:c.2279A>G	p.His760Arg	p.H760R	ENST00000354725	NM_014390.2	760	cAt/cGt	0	1	1	UPI00000727E5	0	getma.org/pdb.php?prot=SND1_HUMAN&from=677&to=799&var=H760R	ENST00000354725		ENSG00000197157	30646		47	1.1		HGNC	p.H760R		SND1		SNV							ENST00000354725	protein_coding	getma.org/?cm=var&var=hg19,7,127725807,A,G&fts=all		PROSITE_profiles:PS50304,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Pfam_domain:PF00567,Gene3D:2.30.30.140,PIRSF_domain:PIRSF017179,SMART_domains:SM00333,Superfamily_domains:SSF63748,Superfamily_domains:0047647		H/R		G	low	2473/3476		getma.org/?cm=msa&ty=f&p=SND1_HUMAN&rb=677&re=799&var=H760R	tolerated(0.28)	B2R5U1_HUMAN			YES	SND1,missense_variant,p.His760Arg,ENST00000354725,NM_014390.2;SND1,downstream_gene_variant,,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,;							MODERATE	2279/2733	H760R	SND1_HUMAN			Transcript		benign(0.081)	.	ENSP00000346762		CCDS34747.1			1	
SGTB	0	LGGM	GRCh37	5	64976535	64976535	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	47	5	.	.	ENST00000381007.4:c.566A>T	p.Tyr189Phe	p.Y189F	ENST00000381007	NM_019072.2	189	tAt/tTt	0	1	1	UPI000004D24F	0	NA	ENST00000381007		ENSG00000197860	23567		52	2.46		HGNC	p.Y189F		SGTB		SNV							ENST00000506816	protein_coding	getma.org/?cm=var&var=hg19,5,64976535,T,A&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF290,Superfamily_domains:SSF48452		Y/F		A	medium	802/5469		getma.org/?cm=msa&ty=f&p=SGTB_HUMAN&rb=187&re=304&var=Y189F	deleterious(0.03)	O75589_HUMAN,D6RFW1_HUMAN			YES	SGTB,missense_variant,p.Tyr189Phe,ENST00000381007,NM_019072.2;SGTB,missense_variant,p.Tyr189Phe,ENST00000506816,;							MODERATE	566/915	Y189F	SGTB_HUMAN			Transcript		possibly_damaging(0.83)	.	ENSP00000370395		CCDS3988.1			1	
TRPC4AP	0	LGGM	GRCh37	20	33657196	33657196	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	36	6	.	.	ENST00000252015.2:c.317C>G	p.Ser106Cys	p.S106C	ENST00000252015		106	tCc/tGc	0	1	1	UPI000004FADD	0	NA	ENST00000252015		ENSG00000100991	16181		42	0.895		HGNC	p.S106C		TRPC4AP		SNV							ENST00000451813	protein_coding	getma.org/?cm=var&var=hg19,20,33657196,G,C&fts=all		hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Superfamily_domains:SSF48371		S/C		C	low	407/3226		getma.org/?cm=msa&ty=f&p=TP4AP_HUMAN&rb=1&re=200&var=S106C	deleterious(0)				YES	TRPC4AP,missense_variant,p.Ser106Cys,ENST00000252015,;TRPC4AP,missense_variant,p.Ser106Cys,ENST00000451813,NM_015638.2,NM_199368.1;TRPC4AP,intron_variant,,ENST00000432634,;							MODERATE	317/2394	S106C	TP4AP_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000252015		CCDS13246.1			1	
DCC	0	LGGM	GRCh37	18	50918169	50918169	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	51	6	.	.	ENST00000442544.2:c.2600A>G	p.Asn867Ser	p.N867S	ENST00000442544	NM_005215.3	867	aAc/aGc	0	1	1	UPI00001AEDC6	0	getma.org/pdb.php?prot=DCC_HUMAN&from=845&to=932&var=N867S	ENST00000442544		ENSG00000187323	2701		57	1.405		HGNC	p.N502S		DCC		SNV			1				ENST00000581580	protein_coding	getma.org/?cm=var&var=hg19,18,50918169,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00060,Superfamily_domains:SSF49265		N/S		G	low	3216/5721		getma.org/?cm=msa&ty=f&p=DCC_HUMAN&rb=845&re=932&var=N867S	tolerated(0.11)	J3QQJ6_HUMAN			YES	DCC,missense_variant,p.Asn867Ser,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Asn502Ser,ENST00000581580,;DCC,missense_variant,p.Asn695Ser,ENST00000412726,;DCC,missense_variant,p.Asn6Ser,ENST00000579941,;DCC,intron_variant,,ENST00000304775,;							MODERATE	2600/4344	N867S	DCC_HUMAN			Transcript		benign(0.093)	.	ENSP00000389140		CCDS11952.1			1	
RSF1	0	LGGM	GRCh37	11	77383093	77383093	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	55	6	.	.	ENST00000308488.6:c.3745A>G	p.Ser1249Gly	p.S1249G	ENST00000308488		1249	Agt/Ggt	0	1	1	UPI00001FB001	0	NA	ENST00000308488		ENSG00000048649	18118		61	1.15		HGNC	p.S1249G		RSF1		SNV							ENST00000308488	protein_coding	getma.org/?cm=var&var=hg19,11,77383093,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2		S/G		C	low	4048/11550		getma.org/?cm=msa&ty=f&p=RSF1_HUMAN&rb=942&re=1439&var=S1249G	deleterious(0.01)	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN			YES	RSF1,missense_variant,p.Ser1249Gly,ENST00000308488,;RSF1,missense_variant,p.Ser997Gly,ENST00000480887,;RSF1,missense_variant,p.Ser1218Gly,ENST00000360355,NM_016578.3;RSF1,downstream_gene_variant,,ENST00000531026,;RSF1,downstream_gene_variant,,ENST00000529470,;							MODERATE	3745/4326	S1249G	RSF1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000311513		CCDS8253.1			1	
NTF3	0	LGGM	GRCh37	12	5603610	5603610	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	26	6	.	.	ENST00000423158.3:c.269C>T	p.Pro90Leu	p.P90L	ENST00000423158	NM_001102654.1	90	cCc/cTc	0	1		UPI0000048FDB	0	NA	ENST00000331010		ENSG00000185652	8023		32	0.69		HGNC	p.P77L		NTF3		SNV							ENST00000331010	protein_coding	getma.org/?cm=var&var=hg19,12,5603610,C,T&fts=all		PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4		P/L		T	neutral	313/1167		getma.org/?cm=msa&ty=f&p=NTF3_HUMAN&rb=1&re=140&var=P77L	tolerated(0.28)					NTF3,missense_variant,p.Pro90Leu,ENST00000423158,NM_001102654.1;NTF3,missense_variant,p.Pro77Leu,ENST00000331010,NM_002527.4;NTF3,non_coding_transcript_exon_variant,,ENST00000543548,;NTF3,intron_variant,,ENST00000535299,;							MODERATE	230/774	P77L	NTF3_HUMAN			Transcript		benign(0.059)	.	ENSP00000328738		CCDS8538.1			1	
UBALD1	0	LGGM	GRCh37	16	4664752	4664752	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	15	6	.	.	ENST00000283474.7:c.47A>T	p.Gln16Leu	p.Q16L	ENST00000283474	NM_145253.2	16	cAg/cTg	0	1	1	UPI000006CD48	0	getma.org/pdb.php?prot=F100A_HUMAN&from=1&to=175&var=Q16L	ENST00000283474		ENSG00000153443	29576		21	2.215		HGNC	p.Q16L		UBALD1		SNV							ENST00000587615	protein_coding	getma.org/?cm=var&var=hg19,16,4664752,T,A&fts=all		hmmpanther:PTHR31993,Gene3D:1.10.8.10,Pfam_domain:PF14555,Superfamily_domains:SSF46934		Q/L		A	medium	176/1413		getma.org/?cm=msa&ty=f&p=F100A_HUMAN&rb=1&re=175&var=Q16L	deleterious(0)	K7EKZ4_HUMAN,D3DUE0_HUMAN			YES	UBALD1,missense_variant,p.Gln16Leu,ENST00000590965,;UBALD1,missense_variant,p.Gln16Leu,ENST00000283474,NM_145253.2;UBALD1,missense_variant,p.Gln16Leu,ENST00000591401,;UBALD1,missense_variant,p.Gln16Leu,ENST00000587615,;UBALD1,missense_variant,p.Gln16Leu,ENST00000587649,;UBALD1,intron_variant,,ENST00000591897,;UBALD1,upstream_gene_variant,,ENST00000590891,;UBALD1,upstream_gene_variant,,ENST00000591113,;MGRN1,upstream_gene_variant,,ENST00000591895,;UBALD1,intron_variant,,ENST00000588691,;							MODERATE	47/534	Q16L	UBAD1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000283474		CCDS10518.1			1	
MEP1A	0	LGGM	GRCh37	6	46801038	46801038	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	54	6	.	.	ENST00000230588.4:c.1372C>A	p.Arg458=	p.R458=	ENST00000230588	NM_005588.2	458	Cga/Aga	0	1	1	UPI000006E4E9	0		ENST00000230588		ENSG00000112818	7015		60			HGNC	p.R458R		MEP1A		SNV							ENST00000230588	protein_coding			Gene3D:2.60.210.10,Pfam_domain:PF00917,PIRSF_domain:PIRSF001196,PROSITE_profiles:PS50144,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,SMART_domains:SM00061,Superfamily_domains:SSF49599		R		A		1381/2892							YES	MEP1A,synonymous_variant,p.=,ENST00000230588,NM_005588.2;							LOW	1372/2241		MEP1A_HUMAN			Transcript			.	ENSP00000230588		CCDS4918.1			1	
ZSWIM1	0	LGGM	GRCh37	20	44511437	44511437	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	29	6	.	.	ENST00000372523.1:c.206A>G	p.Gln69Arg	p.Q69R	ENST00000372523	NM_080603.4	69	cAa/cGa	0	1		UPI0000470896	0	NA	ENST00000372520		ENSG00000168612	16155		35	0.57		HGNC	p.Q69R		ZSWIM1		SNV							ENST00000372520	protein_coding	getma.org/?cm=var&var=hg19,20,44511437,A,G&fts=all		hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0		Q/R		G	neutral	287/2168		getma.org/?cm=msa&ty=f&p=ZSWM1_HUMAN&rb=1&re=200&var=Q69R	tolerated(1)	A8K5I9_HUMAN				ZSWIM1,missense_variant,p.Gln69Arg,ENST00000372523,NM_080603.4;ZSWIM1,missense_variant,p.Gln69Arg,ENST00000372520,;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3;							MODERATE	206/1458	Q69R	ZSWM1_HUMAN			Transcript		benign(0.001)	.	ENSP00000361598		CCDS13382.2			1	
SLC6A18	0	LGGM	GRCh37	5	1243711	1243711	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	19	6	.	.	ENST00000324642.3:c.1173G>C	p.Glu391Asp	p.E391D	ENST00000324642	NM_182632.2	391	gaG/gaC	0	1	1	UPI0000197EA2	0	NA	ENST00000324642		ENSG00000164363	26441		25	1.77		HGNC	p.E320D		SLC6A18		SNV			1				ENST00000296821	protein_coding	getma.org/?cm=var&var=hg19,5,1243711,G,C&fts=all		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687		E/D		C	low	1296/2121		getma.org/?cm=msa&ty=f&p=S6A18_HUMAN&rb=18&re=593&var=E391D	deleterious(0)				YES	SLC6A18,missense_variant,p.Glu391Asp,ENST00000324642,NM_182632.2;SLC6A18,missense_variant,p.Glu320Asp,ENST00000296821,;							MODERATE	1173/1887	E391D	S6A18_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000323549		CCDS3860.1			1	
PPARGC1A	0	LGGM	GRCh37	4	23825974	23825974	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	73	8	.	.	ENST00000264867.2:c.806A>T	p.Asp269Val	p.D269V	ENST00000264867	NM_013261.3	269	gAc/gTc	0	1	1	UPI000004D072	0	NA	ENST00000264867		ENSG00000109819	9237		81	2.705		HGNC	p.D269V		PPARGC1A		SNV			1				ENST00000264867	protein_coding	getma.org/?cm=var&var=hg19,4,23825974,T,A&fts=all		hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528		D/V		A	medium	926/6318		getma.org/?cm=msa&ty=f&p=PRGC1_HUMAN&rb=1&re=671&var=D269V	deleterious(0)	G8DM16_HUMAN			YES	PPARGC1A,missense_variant,p.Asp269Val,ENST00000264867,NM_013261.3;PPARGC1A,splice_region_variant,,ENST00000509702,;PPARGC1A,splice_region_variant,,ENST00000509642,;PPARGC1A,downstream_gene_variant,,ENST00000508380,;PPARGC1A,missense_variant,p.Asp269Val,ENST00000513205,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;PPARGC1A,downstream_gene_variant,,ENST00000514479,;							MODERATE	806/2397	D269V	PRGC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264867		CCDS3429.1			1	
ATRNL1	0	LGGM	GRCh37	10	117059633	117059633	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	29	8	.	.	ENST00000355044.3:c.2505G>T	p.Gln835His	p.Q835H	ENST00000355044	NM_207303.2	835	caG/caT	0	1	1	UPI000021CCF8	0	getma.org/pdb.php?prot=ATRN1_HUMAN&from=755&to=873&var=Q835H	ENST00000355044		ENSG00000107518	29063		37	1.995		HGNC	p.Q835H		ATRNL1		SNV							ENST00000355044	protein_coding	getma.org/?cm=var&var=hg19,10,117059633,G,T&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,SMART_domains:SM00034,Superfamily_domains:SSF56436		Q/H		T	medium	2631/8479		getma.org/?cm=msa&ty=f&p=ATRN1_HUMAN&rb=755&re=873&var=Q835H	deleterious(0.01)				YES	ATRNL1,missense_variant,p.Gln835His,ENST00000355044,NM_207303.2;ATRNL1,upstream_gene_variant,,ENST00000423111,;ATRNL1,upstream_gene_variant,,ENST00000303745,;ATRNL1,upstream_gene_variant,,ENST00000526373,;ATRNL1,upstream_gene_variant,,ENST00000534530,;							MODERATE	2505/4140	Q835H	ATRN1_HUMAN			Transcript		possibly_damaging(0.646)	.	ENSP00000347152		CCDS7592.1			1	
CEACAM6	0	LGGM	GRCh37	19	42265888	42265888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	49	8	.	.	ENST00000199764.6:c.715G>A	p.Gly239Ser	p.G239S	ENST00000199764	NM_002483.4	239	Ggc/Agc	0	1	1	UPI000006DF42	0	getma.org/pdb.php?prot=CEAM6_HUMAN&from=239&to=318&var=G239S	ENST00000199764		ENSG00000086548	1818		57	0.69		HGNC	p.G239S		CEACAM6		SNV							ENST00000199764	protein_coding	getma.org/?cm=var&var=hg19,19,42265888,G,A&fts=all		hmmpanther:PTHR19955:SF121,hmmpanther:PTHR19955,Superfamily_domains:SSF48726		G/S		A	neutral	933/2700		getma.org/?cm=msa&ty=f&p=CEAM6_HUMAN&rb=239&re=318&var=G239S	tolerated(0.23)	Q13985_HUMAN,M0QYD3_HUMAN			YES	CEACAM6,missense_variant,p.Gly239Ser,ENST00000199764,NM_002483.4;CEA,downstream_gene_variant,,ENST00000598976,;AC011513.4,intron_variant,,ENST00000601409,;							MODERATE	715/1035	G239S	CEAM6_HUMAN			Transcript		benign(0.065)	.	ENSP00000199764		CCDS12585.1			1	
RAB13	0	LGGM	GRCh37	1	153954891	153954891	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	203	8	.	.	ENST00000368575.3:c.510G>C	p.Leu170Phe	p.L170F	ENST00000368575	NM_002870.3	170	ttG/ttC	0	1	1	UPI0000001264	0	getma.org/pdb.php?prot=RAB13_HUMAN&from=10&to=171&var=L170F	ENST00000368575		ENSG00000143545	9762		211	1.375		HGNC	p.L170F		RAB13		SNV							ENST00000368575	protein_coding	getma.org/?cm=var&var=hg19,1,153954891,C,G&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Pfam_domain:PF00071,Gene3D:3.40.50.300,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF403,PROSITE_profiles:PS51419		L/F		G	low	626/1176		getma.org/?cm=msa&ty=f&p=RAB13_HUMAN&rb=10&re=171&var=L170F	tolerated(0.32)	Q504R6_HUMAN			YES	RAB13,missense_variant,p.Leu170Phe,ENST00000368575,NM_002870.3;JTB,upstream_gene_variant,,ENST00000271843,NM_006694.3;JTB,upstream_gene_variant,,ENST00000368589,;JTB,upstream_gene_variant,,ENST00000356648,;RP11-422P24.11,downstream_gene_variant,,ENST00000608236,;RAB13,non_coding_transcript_exon_variant,,ENST00000462680,;RAB13,non_coding_transcript_exon_variant,,ENST00000495720,;JTB,upstream_gene_variant,,ENST00000471173,;RAB13,downstream_gene_variant,,ENST00000484297,;JTB,upstream_gene_variant,,ENST00000461365,;							MODERATE	510/612	L170F	RAB13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357564		CCDS1058.1			1	
RTN3	0	LGGM	GRCh37	11	63520025	63520025	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	72	8	.	.	ENST00000377819.5:c.2785A>G	p.Asn929Asp	p.N929D	ENST00000377819	NM_001265589.1	929	Aat/Gat	0	1	1	UPI00004546A2	0	getma.org/pdb.php?prot=RTN3_HUMAN&from=844&to=1014&var=N929D	ENST00000377819		ENSG00000133318	10469		80	0.205		HGNC	p.N152D		RTN3		SNV							ENST00000356000	protein_coding	getma.org/?cm=var&var=hg19,11,63520025,A,G&fts=all		PROSITE_profiles:PS50845,hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF1,Pfam_domain:PF02453		N/D		G	neutral	2939/4937		getma.org/?cm=msa&ty=f&p=RTN3_HUMAN&rb=844&re=1014&var=N929D	deleterious(0.01)				YES	RTN3,missense_variant,p.Asn929Asp,ENST00000377819,NM_001265589.1;RTN3,missense_variant,p.Asn910Asp,ENST00000339997,NM_201428.2,NM_001265590.1;RTN3,missense_variant,p.Asn817Asp,ENST00000540798,;RTN3,missense_variant,p.Asn152Asp,ENST00000356000,NM_201429.2;RTN3,missense_variant,p.Asn133Asp,ENST00000537981,NM_006054.3;RTN3,missense_variant,p.Asn133Asp,ENST00000341307,NM_201430.2;RTN3,missense_variant,p.Asn159Asp,ENST00000542238,;RTN3,intron_variant,,ENST00000354497,NM_001265591.1;RTN3,intron_variant,,ENST00000536011,;RTN3,downstream_gene_variant,,ENST00000543123,;							MODERATE	2785/3099	N929D	RTN3_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000367050		CCDS58141.1			1	
STAM	0	LGGM	GRCh37	10	17747714	17747714	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	55	8	.	.	ENST00000377524.3:c.1183C>T	p.Gln395Ter	p.Q395*	ENST00000377524	NM_003473.3	395	Cag/Tag	0	1	1	UPI000006E278	0	NA	ENST00000377524		ENSG00000136738	11357		63	0		HGNC	p.Q284X		STAM		SNV							ENST00000540523	protein_coding	getma.org/?cm=var&var=hg19,10,17747714,C,T&fts=all		hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF26		Q/*		T	NA	1398/2972		NA		C9J1E5_HUMAN,B4DZT2_HUMAN,A6NMU3_HUMAN			YES	STAM,stop_gained,p.Gln395Ter,ENST00000377524,NM_003473.3;STAM,stop_gained,p.Gln284Ter,ENST00000540523,;							HIGH	1183/1623	Q395*	STAM1_HUMAN			Transcript			.	ENSP00000366746		CCDS7122.1			1	
RBFA	0	LGGM	GRCh37	18	77806078	77806078	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	16	8	.	.	ENST00000306735.5:c.955G>A	p.Asp319Asn	p.D319N	ENST00000306735	NM_024805.2	319	Gac/Aac	0	1	1	UPI000013D270	0	NA	ENST00000306735		ENSG00000101546	26120		24	1.1		HGNC	p.D319N		RBFA		SNV							ENST00000306735	protein_coding	getma.org/?cm=var&var=hg19,18,77806078,G,A&fts=all		hmmpanther:PTHR14725:SF0,hmmpanther:PTHR14725		D/N		A	low	1093/1407		getma.org/?cm=msa&ty=f&p=RBFA_HUMAN&rb=198&re=343&var=D319N	tolerated_low_confidence(0.44)				YES	RBFA,missense_variant,p.Asp319Asn,ENST00000306735,NM_024805.2;RBFA,3_prime_UTR_variant,,ENST00000262197,NM_001171967.1;RP11-795F19.5,intron_variant,,ENST00000564012,;RP11-795F19.5,intron_variant,,ENST00000589713,;RBFADN,upstream_gene_variant,,ENST00000562391,;RBFA,non_coding_transcript_exon_variant,,ENST00000593019,;RP11-795F19.5,intron_variant,,ENST00000569722,;RP11-795F19.5,intron_variant,,ENST00000562771,;RP11-795F19.5,intron_variant,,ENST00000591514,;							MODERATE	955/1032	D319N	RBFA_HUMAN			Transcript		benign(0.001)	.	ENSP00000305696		CCDS12021.1			1	
STAM	0	LGGM	GRCh37	10	17747713	17747713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	55	8	.	.	ENST00000377524.3:c.1182G>T	p.Met394Ile	p.M394I	ENST00000377524	NM_003473.3	394	atG/atT	0	1	1	UPI000006E278	0	NA	ENST00000377524		ENSG00000136738	11357		63	1.43		HGNC	p.M283I		STAM		SNV							ENST00000540523	protein_coding	getma.org/?cm=var&var=hg19,10,17747713,G,T&fts=all		hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF26		M/I		T	low	1397/2972		getma.org/?cm=msa&ty=f&p=STAM1_HUMAN&rb=262&re=461&var=M394I	tolerated(0.4)	C9J1E5_HUMAN,B4DZT2_HUMAN,A6NMU3_HUMAN			YES	STAM,missense_variant,p.Met394Ile,ENST00000377524,NM_003473.3;STAM,missense_variant,p.Met283Ile,ENST00000540523,;							MODERATE	1182/1623	M394I	STAM1_HUMAN			Transcript		benign(0.001)	.	ENSP00000366746		CCDS7122.1			1	
MED23	0	LGGM	GRCh37	6	131912574	131912574	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	29	8	.	.	ENST00000368068.3:c.3565C>T	p.Arg1189Cys	p.R1189C	ENST00000368068	NM_004830.3	1189	Cgc/Tgc	0	1	1	UPI000012855F	0	NA	ENST00000368068		ENSG00000112282	2372		37	0.345		HGNC	p.R830C	rs760234442	MED23		SNV			1				ENST00000545957	protein_coding	getma.org/?cm=var&var=hg19,6,131912574,G,A&fts=all		Pfam_domain:PF11573,hmmpanther:PTHR12691,hmmpanther:PTHR12691:SF10		R/C		A	neutral	3745/5233	1.50E-05	getma.org/?cm=msa&ty=f&p=MED23_HUMAN&rb=1&re=1307&var=R1189C	deleterious(0.01)	B9TX51_HUMAN			YES	MED23,missense_variant,p.Arg1195Cys,ENST00000403834,;MED23,missense_variant,p.Arg1189Cys,ENST00000368068,NM_004830.3;MED23,missense_variant,p.Arg1195Cys,ENST00000354577,NM_015979.3,NM_001270521.1;MED23,missense_variant,p.Arg1195Cys,ENST00000368058,;MED23,missense_variant,p.Arg1189Cys,ENST00000368060,NM_001270522.1;MED23,missense_variant,p.Arg830Cys,ENST00000545957,;MED23,non_coding_transcript_exon_variant,,ENST00000479213,;MED23,non_coding_transcript_exon_variant,,ENST00000484885,;	0.000116						MODERATE	3565/4107	R1189C	MED23_HUMAN			Transcript		benign(0.111)	.	ENSP00000357047	1.65E-05	CCDS5147.1			1	
PROKR2	0	LGGM	GRCh37	20	5283235	5283235	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	71	9	.	.	ENST00000546004.1:c.606C>T	p.Ser202=	p.S202=	ENST00000546004		202	agC/agT	0	1		UPI000003BCC6	0		ENST00000217270		ENSG00000101292	15836		80			HGNC	p.S202S		PROKR2		SNV			1				ENST00000217270	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF189,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		S		A		606/1155								PROKR2,synonymous_variant,p.=,ENST00000546004,;PROKR2,synonymous_variant,p.=,ENST00000217270,NM_144773.2;							LOW	606/1155		PKR2_HUMAN			Transcript			.	ENSP00000217270		CCDS13089.1			1	
SPAG9	0	LGGM	GRCh37	17	49067901	49067901	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	31	9	.	.	ENST00000262013.7:c.2527A>G	p.Thr843Ala	p.T843A	ENST00000262013	NM_001130528.2	843	Aca/Gca	0	1	1	UPI0000D60DF7	0	NA	ENST00000262013		ENSG00000008294	14524		40	2.08		HGNC	p.T833A		SPAG9		SNV							ENST00000505279	protein_coding	getma.org/?cm=var&var=hg19,17,49067901,T,C&fts=all		hmmpanther:PTHR13886		T/A		C	medium	2736/8273		getma.org/?cm=msa&ty=f&p=JIP4_HUMAN&rb=782&re=981&var=T843A	tolerated(0.07)	H0Y981_HUMAN			YES	SPAG9,missense_variant,p.Thr843Ala,ENST00000262013,NM_001130528.2;SPAG9,missense_variant,p.Thr686Ala,ENST00000510283,NM_001251971.1;SPAG9,missense_variant,p.Thr829Ala,ENST00000357122,NM_003971.5;SPAG9,missense_variant,p.Thr833Ala,ENST00000505279,NM_001130527.2;SPAG9,missense_variant,p.Thr102Ala,ENST00000513906,;SPAG9,missense_variant,p.Thr16Ala,ENST00000513746,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514205,;SPAG9,downstream_gene_variant,,ENST00000506483,;							MODERATE	2527/3966	T843A	JIP4_HUMAN			Transcript		benign(0.002)	.	ENSP00000262013		CCDS45740.1			1	
HACL1	0	LGGM	GRCh37	3	15621528	15621528	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	30	9	.	.	ENST00000321169.5:c.692A>G	p.Glu231Gly	p.E231G	ENST00000321169	NM_012260.2	231	gAg/gGg	0	1	1	UPI000012CB25	0	getma.org/pdb.php?prot=HACL1_HUMAN&from=203&to=332&var=E231G	ENST00000321169		ENSG00000131373	17856		39	1.295		HGNC	p.E204G		HACL1		SNV							ENST00000456194	protein_coding	getma.org/?cm=var&var=hg19,3,15621528,T,C&fts=all		hmmpanther:PTHR18968:SF6,hmmpanther:PTHR18968,Gene3D:3.40.50.1220,Pfam_domain:PF00205,Superfamily_domains:SSF52467		E/G		C	low	1060/2266		getma.org/?cm=msa&ty=f&p=HACL1_HUMAN&rb=203&re=332&var=E231G	tolerated(0.37)				YES	HACL1,missense_variant,p.Glu231Gly,ENST00000321169,NM_012260.2;HACL1,missense_variant,p.Glu204Gly,ENST00000456194,NM_001284413.1;HACL1,missense_variant,p.Glu149Gly,ENST00000451445,NM_001284416.1;HACL1,missense_variant,p.Glu205Gly,ENST00000457447,NM_001284415.1;HACL1,missense_variant,p.Glu204Gly,ENST00000421993,;HACL1,intron_variant,,ENST00000435217,;HACL1,downstream_gene_variant,,ENST00000414979,;HACL1,3_prime_UTR_variant,,ENST00000383779,;HACL1,3_prime_UTR_variant,,ENST00000422591,;							MODERATE	692/1737	E231G	HACL1_HUMAN			Transcript		benign(0.005)	.	ENSP00000323811		CCDS2627.1			1	
EXOSC10	0	LGGM	GRCh37	1	11142880	11142880	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	45	9	.	.	ENST00000376936.4:c.1145A>G	p.Tyr382Cys	p.Y382C	ENST00000376936	NM_001001998.1	382	tAt/tGt	0	1	1	UPI0000001C90	0	getma.org/pdb.php?prot=EXOSX_HUMAN&from=288&to=456&var=Y382C	ENST00000376936		ENSG00000171824	9138		54	3.605		HGNC	p.Y382C		EXOSC10		SNV							ENST00000304457	protein_coding	getma.org/?cm=var&var=hg19,1,11142880,T,C&fts=all		Gene3D:3.30.420.10,Pfam_domain:PF01612,hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42,SMART_domains:SM00474,Superfamily_domains:SSF53098		Y/C		C	high	1195/2808		getma.org/?cm=msa&ty=f&p=EXOSX_HUMAN&rb=288&re=456&var=Y382C	deleterious(0)	K7EJ37_HUMAN,B4DFE4_HUMAN			YES	EXOSC10,missense_variant,p.Tyr382Cys,ENST00000544779,;EXOSC10,missense_variant,p.Tyr382Cys,ENST00000376936,NM_001001998.1;EXOSC10,missense_variant,p.Tyr382Cys,ENST00000304457,NM_002685.2;EXOSC10,upstream_gene_variant,,ENST00000485606,;EXOSC10,upstream_gene_variant,,ENST00000470611,;EXOSC10,upstream_gene_variant,,ENST00000474216,;EXOSC10,upstream_gene_variant,,ENST00000472078,;							MODERATE	1145/2658	Y382C	EXOSX_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000366135		CCDS30584.1			1	
MAT2A	0	LGGM	GRCh37	2	85769438	85769438	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	27	10	.	.	ENST00000306434.3:c.710A>C	p.Asp237Ala	p.D237A	ENST00000306434	NM_005911.5	237	gAt/gCt	0	1	1	UPI0000000C32	0	getma.org/pdb.php?prot=METK2_HUMAN&from=128&to=250&var=D237A	ENST00000306434		ENSG00000168906	6904		37	3.575		HGNC	p.D237A		MAT2A		SNV							ENST00000306434	protein_coding	getma.org/?cm=var&var=hg19,2,85769438,A,C&fts=all		HAMAP:MF_00086,hmmpanther:PTHR11964,TIGRFAM_domain:TIGR01034,Pfam_domain:PF02772,Gene3D:3.30.300.10,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973		D/A		C	high	833/2819		getma.org/?cm=msa&ty=f&p=METK2_HUMAN&rb=128&re=250&var=D237A	deleterious(0)	B4DN45_HUMAN,B4DEX8_HUMAN			YES	MAT2A,missense_variant,p.Asp237Ala,ENST00000306434,NM_005911.5;MAT2A,missense_variant,p.Asp174Ala,ENST00000409017,;GGCX,downstream_gene_variant,,ENST00000233838,NM_000821.5;MAT2A,downstream_gene_variant,,ENST00000490878,;MAT2A,non_coding_transcript_exon_variant,,ENST00000481412,;MAT2A,downstream_gene_variant,,ENST00000469221,;MAT2A,downstream_gene_variant,,ENST00000465151,;							MODERATE	710/1188	D237A	METK2_HUMAN			Transcript		possibly_damaging(0.496)	.	ENSP00000303147		CCDS1977.1			1	
PCDHGA6	0	LGGM	GRCh37	5	140754857	140754857	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	99	10	.	.	ENST00000517434.1:c.1207C>T	p.Arg403Ter	p.R403*	ENST00000517434	NM_018919.2	403	Cga/Tga	0	1	1	UPI00000715C8	0	NA	ENST00000517434		ENSG00000253731	8704		109	0		HGNC	p.R403X	rs763674664,COSM3611456,COSM3611455	PCDHGA6		SNV				0.000104		0,1,1	ENST00000517434	protein_coding	getma.org/?cm=var&var=hg19,5,140754857,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/*		T	NA	1207/4605		NA		Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA6,stop_gained,p.Arg403Ter,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;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;					0,1,1		HIGH	1207/2799	R403*	PCDG6_HUMAN			Transcript			.	ENSP00000429601	8.27E-06	CCDS54926.1			1	
ITGAL	0	LGGM	GRCh37	16	30492832	30492832	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	24	10	.	.	ENST00000356798.6:c.649C>T	p.Pro217Ser	p.P217S	ENST00000356798	NM_002209.2	217	Cct/Tct	0	1	1	UPI000013C4FF	0	getma.org/pdb.php?prot=ITAL_HUMAN&from=156&to=331&var=P217S	ENST00000356798		ENSG00000005844	6148		34	2.19		HGNC	p.P134S		ITGAL		SNV							ENST00000564118	protein_coding	getma.org/?cm=var&var=hg19,16,30492832,C,T&fts=all		Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF70,SMART_domains:SM00327,Superfamily_domains:SSF53300		P/S		T	medium	829/5213		getma.org/?cm=msa&ty=f&p=ITAL_HUMAN&rb=156&re=331&var=P217S	deleterious(0)	I3L468_HUMAN,H3BNL5_HUMAN			YES	ITGAL,missense_variant,p.Pro217Ser,ENST00000356798,NM_002209.2;ITGAL,missense_variant,p.Pro134Ser,ENST00000358164,NM_001114380.1;ITGAL,missense_variant,p.Pro134Ser,ENST00000564118,;ITGAL,3_prime_UTR_variant,,ENST00000454514,;ITGAL,intron_variant,,ENST00000433423,;ITGAL,downstream_gene_variant,,ENST00000569725,;RNU7-61P,downstream_gene_variant,,ENST00000515897,;RP11-297C4.2,intron_variant,,ENST00000569459,;RP11-297C4.3,upstream_gene_variant,,ENST00000562525,;ITGAL,intron_variant,,ENST00000565348,;ITGAL,3_prime_UTR_variant,,ENST00000562857,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000565864,;ITGAL,upstream_gene_variant,,ENST00000566149,;							MODERATE	649/3513	P217S	ITAL_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000349252		CCDS32433.1			1	
TAF1L	0	LGGM	GRCh37	9	32630606	32630606	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	95	10	.	.	ENST00000242310.4:c.4972C>G	p.Pro1658Ala	p.P1658A	ENST00000242310	NM_153809.2	1658	Cca/Gca	0	1	1	UPI000007408A	0	NA	ENST00000242310		ENSG00000122728	18056		105	1.87		HGNC	p.P1658A		TAF1L		SNV							ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32630606,G,C&fts=all		hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047		P/A		C	low	5062/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1615&re=1814&var=P1658A	tolerated_low_confidence(0.13)				YES	TAF1L,missense_variant,p.Pro1658Ala,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							MODERATE	4972/5481	P1658A	TAF1L_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000418379		CCDS35003.1			1	
CD1D	0	LGGM	GRCh37	1	158152070	158152070	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	124	10	.	.	ENST00000368171.3:c.577G>A	p.Glu193Lys	p.E193K	ENST00000368171	NM_001766.3	193	Gag/Aag	0	1	1	UPI00000012B1	0	getma.org/pdb.php?prot=CD1D_HUMAN&from=185&to=292&var=E193K	ENST00000368171		ENSG00000158473	1637		134	2.55		HGNC	p.E193K		CD1D		SNV							ENST00000368171	protein_coding	getma.org/?cm=var&var=hg19,1,158152070,G,A&fts=all		Gene3D:3.30.500.10,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Superfamily_domains:SSF54452		E/K		A	medium	1076/2253		getma.org/?cm=msa&ty=f&p=CD1D_HUMAN&rb=185&re=292&var=E193K	tolerated(0.08)				YES	CD1D,missense_variant,p.Glu193Lys,ENST00000368171,NM_001766.3;ELL2P1,upstream_gene_variant,,ENST00000413990,;							MODERATE	577/1008	E193K	CD1D_HUMAN			Transcript		benign(0.357)	.	ENSP00000357153		CCDS1173.1			1	
DGKG	0	LGGM	GRCh37	3	185993355	185993355	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	56	11	.	.	ENST00000265022.3:c.891G>T	p.Lys297Asn	p.K297N	ENST00000265022	NM_001080744.1	297	aaG/aaT	0	1	1	UPI000013D5AB	0	getma.org/pdb.php?prot=DGKG_HUMAN&from=272&to=324&var=K297N	ENST00000265022		ENSG00000058866	2853		67	2.545		HGNC	p.K297N		DGKG		SNV							ENST00000544847	protein_coding	getma.org/?cm=var&var=hg19,3,185993355,C,A&fts=all		PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889		K/N		A	medium	1431/5805		getma.org/?cm=msa&ty=f&p=DGKG_HUMAN&rb=272&re=324&var=K297N	deleterious(0)				YES	DGKG,missense_variant,p.Lys297Asn,ENST00000265022,NM_001080744.1,NM_001346.2,NM_001080745.1;DGKG,missense_variant,p.Lys297Asn,ENST00000344484,;DGKG,missense_variant,p.Lys297Asn,ENST00000544847,;DGKG,missense_variant,p.Lys297Asn,ENST00000382164,;DGKG,missense_variant,p.Lys48Asn,ENST00000437018,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,non_coding_transcript_exon_variant,,ENST00000472506,;DGKG,downstream_gene_variant,,ENST00000482566,;							MODERATE	891/2376	K297N	DGKG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265022		CCDS3274.1			1	
OR2A5	0	LGGM	GRCh37	7	143747876	143747876	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	86	11	.	.	ENST00000408906.2:c.382C>T	p.His128Tyr	p.H128Y	ENST00000408906	NM_012365.1	128	Cac/Tac	0	1	1	UPI0000061F52	0	getma.org/pdb.php?prot=OR2A5_HUMAN&from=1&to=138&var=H128Y	ENST00000408906		ENSG00000221836	8232		97	1.89		HGNC	p.H128Y		OR2A5		SNV							ENST00000408906	protein_coding	getma.org/?cm=var&var=hg19,7,143747876,C,T&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321		H/Y		T	low	416/1013		getma.org/?cm=msa&ty=f&p=OR2A5_HUMAN&rb=1&re=138&var=H128Y	deleterious(0.03)				YES	OR2A5,missense_variant,p.His128Tyr,ENST00000408906,NM_012365.1;							MODERATE	382/936	H128Y	OR2A5_HUMAN			Transcript		benign(0.021)	.	ENSP00000386208		CCDS43668.1			1	
HIPK2	0	LGGM	GRCh37	7	139416294	139416294	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050329	H050329N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	107	15	.	.	ENST00000406875.3:c.540C>T	p.Ser180=	p.S180=	ENST00000406875	NM_022740.4	180	agC/agT	0	1	1	UPI000012C71E	0		ENST00000406875		ENSG00000064393	14402		122			HGNC	p.S180S	rs371112455	HIPK2	0.000424	SNV	A:0						ENST00000342645	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058		S	A:0.0001	A		635/15049	3.01E-05			A4D1R9_HUMAN			YES	HIPK2,synonymous_variant,p.=,ENST00000406875,NM_022740.4;HIPK2,synonymous_variant,p.=,ENST00000428878,;HIPK2,synonymous_variant,p.=,ENST00000342645,;							LOW	540/3597		HIPK2_HUMAN			Transcript			common_variant	ENSP00000385571	7.42E-05				1	
PFN1	0	LGGM	GRCh37	17	4850067	4850067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050329	H050329N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	61	15	.	.	ENST00000225655.5:c.181G>T	p.Val61Leu	p.V61L	ENST00000225655	NM_005022.3	61	Gtg/Ttg	0	1	1	UPI000013C879	0	getma.org/pdb.php?prot=PROF1_HUMAN&from=3&to=135&var=V61L	ENST00000225655		ENSG00000108518	8881		76	0.28		HGNC	p.V25L		PFN1		SNV			1				ENST00000574872	protein_coding	getma.org/?cm=var&var=hg19,17,4850067,C,A&fts=all		hmmpanther:PTHR13936,hmmpanther:PTHR13936:SF7,Gene3D:3.30.450.30,Pfam_domain:PF00235,SMART_domains:SM00392,Superfamily_domains:SSF55770,Prints_domain:PR01639		V/L		A	neutral	801/1291		getma.org/?cm=msa&ty=f&p=PROF1_HUMAN&rb=3&re=135&var=V61L	tolerated(0.26)				YES	PFN1,missense_variant,p.Val61Leu,ENST00000225655,NM_005022.3;PFN1,missense_variant,p.Val25Leu,ENST00000574872,;PFN1,missense_variant,p.Val140Leu,ENST00000572383,;RNF167,downstream_gene_variant,,ENST00000262482,NM_015528.1;RNF167,downstream_gene_variant,,ENST00000575111,;RNF167,downstream_gene_variant,,ENST00000571816,;ENO3,upstream_gene_variant,,ENST00000323997,NM_001976.4,NM_053013.3;RNF167,downstream_gene_variant,,ENST00000572430,;ENO3,upstream_gene_variant,,ENST00000518175,;RNF167,downstream_gene_variant,,ENST00000576229,;ENO3,upstream_gene_variant,,ENST00000519584,NM_001193503.1;ENO3,upstream_gene_variant,,ENST00000522301,;RNF167,downstream_gene_variant,,ENST00000572382,;ENO3,upstream_gene_variant,,ENST00000519602,;ENO3,upstream_gene_variant,,ENST00000520221,;ENO3,upstream_gene_variant,,ENST00000521811,;RNF167,downstream_gene_variant,,ENST00000576965,;RNF167,downstream_gene_variant,,ENST00000576452,;ENO3,upstream_gene_variant,,ENST00000522798,;ENO3,upstream_gene_variant,,ENST00000522249,;RNF167,downstream_gene_variant,,ENST00000573404,;ENO3,upstream_gene_variant,,ENST00000519266,;RNF167,downstream_gene_variant,,ENST00000570328,;RNF167,downstream_gene_variant,,ENST00000570492,;ENO3,upstream_gene_variant,,ENST00000521659,;ENO3,upstream_gene_variant,,ENST00000519834,;RNF167,downstream_gene_variant,,ENST00000575400,;RNF167,downstream_gene_variant,,ENST00000575524,;ENO3,upstream_gene_variant,,ENST00000518972,;ENO3,upstream_gene_variant,,ENST00000571235,;ENO3,upstream_gene_variant,,ENST00000519300,;RNF167,downstream_gene_variant,,ENST00000572554,;RNF167,downstream_gene_variant,,ENST00000574548,;							MODERATE	181/423	V61L	PROF1_HUMAN			Transcript		benign(0.006)	.	ENSP00000225655		CCDS11061.1			1	
PRPF4B	0	LGGM	GRCh37	6	4032596	4032596	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	102	17	.	.	ENST00000337659.6:c.845A>G	p.Glu282Gly	p.E282G	ENST00000337659	NM_003913.4	282	gAa/gGa	0	1	1	UPI000013DD12	0	NA	ENST00000337659		ENSG00000112739	17346		119	1.245		HGNC	p.E268G		PRPF4B		SNV							ENST00000538861	protein_coding	getma.org/?cm=var&var=hg19,6,4032596,A,G&fts=all				E/G		G	low	945/4415		getma.org/?cm=msa&ty=f&p=PRP4B_HUMAN&rb=91&re=498&var=E282G	tolerated_low_confidence(0.12)	H0YDJ3_HUMAN,F5H2U2_HUMAN			YES	PRPF4B,missense_variant,p.Glu282Gly,ENST00000337659,NM_003913.4;PRPF4B,missense_variant,p.Glu268Gly,ENST00000538861,;PRPF4B,missense_variant,p.Glu282Gly,ENST00000480058,;							MODERATE	845/3024	E282G	PRP4B_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000337194		CCDS4488.1			1	
ABL2	0	LGGM	GRCh37	1	179077933	179077933	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050329	H050329N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	31	19	.	.	ENST00000502732.1:c.2469A>C	p.Glu823Asp	p.E823D	ENST00000502732	NM_001168237.1	823	gaA/gaC	0	1	1	UPI0000125140	0	NA	ENST00000502732		ENSG00000143322	77		50	0.55		HGNC	p.E720D		ABL2		SNV							ENST00000511413	protein_coding	getma.org/?cm=var&var=hg19,1,179077933,T,G&fts=all		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87		E/D		G	neutral	2673/12144		getma.org/?cm=msa&ty=f&p=ABL2_HUMAN&rb=740&re=939&var=E823D	tolerated_low_confidence(0.12)				YES	ABL2,missense_variant,p.Glu823Asp,ENST00000502732,NM_001168237.1,NM_007314.3,NM_001168238.1,NM_001168236.1;ABL2,missense_variant,p.Glu787Asp,ENST00000408940,NM_001168239.1;ABL2,missense_variant,p.Glu705Asp,ENST00000344730,NM_001136000.2,NM_005158.4;ABL2,missense_variant,p.Glu808Asp,ENST00000512653,;ABL2,missense_variant,p.Glu802Asp,ENST00000367623,;ABL2,missense_variant,p.Glu720Asp,ENST00000511413,;ABL2,missense_variant,p.Glu699Asp,ENST00000507173,;ABL2,missense_variant,p.Glu684Asp,ENST00000504405,;ABL2,downstream_gene_variant,,ENST00000392043,NM_001136001.1;							MODERATE	2469/3549	E823D	ABL2_HUMAN			Transcript		benign(0.032)	.	ENSP00000427562		CCDS30947.1			1	
CHD6	0	LGGM	GRCh37	20	40141566	40141566	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050329	H050329N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050329N.bam, H050329T.bam	Illumina HiSeq	156	28	.	.	ENST00000373233.3:c.771T>C	p.Asp257=	p.D257=	ENST00000373233	NM_032221.4	257	gaT/gaC	0	1	1	UPI0000168656	0		ENST00000373233		ENSG00000124177	19057		184			HGNC	p.D257D		CHD6		SNV							ENST00000309279	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589		D		G		949/10818							YES	CHD6,synonymous_variant,p.=,ENST00000373233,NM_032221.4;CHD6,synonymous_variant,p.=,ENST00000309279,;CHD6,synonymous_variant,p.=,ENST00000373222,;CHD6,non_coding_transcript_exon_variant,,ENST00000470470,;CHD6,downstream_gene_variant,,ENST00000482596,;							LOW	771/8148		CHD6_HUMAN			Transcript			.	ENSP00000362330		CCDS13317.1			1	
SNRNP40	0	LGGM	GRCh37	1	31754220	31754220	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	12	2	.	.	ENST00000263694.4:c.654+1G>T		p.X218_splice	ENST00000263694	NM_004814.2			0	1	1	UPI000006FD38	0		ENST00000263694		ENSG00000060688	30857		14			HGNC	-		SNRNP40		SNV							ENST00000263694	protein_coding							A		-/1595				A0MNP2_HUMAN			YES	SNRNP40,splice_donor_variant,,ENST00000263694,NM_004814.2;SNRNP40,splice_donor_variant,,ENST00000446633,;SNRNP40,splice_donor_variant,,ENST00000489853,;SNRNP40,splice_donor_variant,,ENST00000474025,;							HIGH	654/1074		SNR40_HUMAN			Transcript			.	ENSP00000263694		CCDS340.1			1	
HYDIN	0	LGGM	GRCh37	16	70889092	70889092	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	21	2	.	.	ENST00000393567.2:c.12382G>T	p.Glu4128Ter	p.E4128*	ENST00000393567	NM_001270974.1	4128	Gaa/Taa	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		23	0		HGNC	p.E4128X		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70889092,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		E/*		A	NA	12533/15719		NA		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,stop_gained,p.Glu4128Ter,ENST00000393567,NM_001270974.1;RNU6ATAC25P,downstream_gene_variant,,ENST00000408798,;HYDIN,3_prime_UTR_variant,,ENST00000378856,;HYDIN,downstream_gene_variant,,ENST00000546257,;							HIGH	12382/15366	E4128*	HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
ISYNA1	0	LGGM	GRCh37	19	18547587	18547587	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	5	2	.	.	ENST00000338128.8:c.516G>T	p.Leu172=	p.L172=	ENST00000338128	NM_001170938.1	172	ctG/ctT	0	1	1	UPI00000424BB	0		ENST00000338128		ENSG00000105655	29821		7			HGNC	p.L22L		ISYNA1		SNV							ENST00000545187	protein_coding			Superfamily_domains:SSF51735,PIRSF_domain:PIRSF015578,Gene3D:3.40.50.720,Pfam_domain:PF07994,hmmpanther:PTHR11510:SF5,hmmpanther:PTHR11510		L		A		734/2420				U3KPZ1_HUMAN,J3QRY0_HUMAN,G3V1R9_HUMAN			YES	ISYNA1,synonymous_variant,p.=,ENST00000338128,NM_001170938.1,NM_016368.4;ISYNA1,synonymous_variant,p.=,ENST00000545187,;ISYNA1,synonymous_variant,p.=,ENST00000457269,;ISYNA1,synonymous_variant,p.=,ENST00000578963,NM_001253389.1;ISYNA1,intron_variant,,ENST00000317018,;ISYNA1,intron_variant,,ENST00000578352,;SSBP4,downstream_gene_variant,,ENST00000270061,NM_032627.4;SSBP4,downstream_gene_variant,,ENST00000348495,NM_001009998.3;SSBP4,downstream_gene_variant,,ENST00000593641,;SSBP4,downstream_gene_variant,,ENST00000597724,;SSBP4,downstream_gene_variant,,ENST00000599699,;ISYNA1,upstream_gene_variant,,ENST00000581672,;ISYNA1,downstream_gene_variant,,ENST00000583534,;ISYNA1,downstream_gene_variant,,ENST00000581800,;SSBP4,downstream_gene_variant,,ENST00000602088,;SSBP4,downstream_gene_variant,,ENST00000601357,;CTD-3137H5.1,upstream_gene_variant,,ENST00000594590,;SSBP4,downstream_gene_variant,,ENST00000598159,;SSBP4,downstream_gene_variant,,ENST00000600628,;ISYNA1,3_prime_UTR_variant,,ENST00000582811,;ISYNA1,3_prime_UTR_variant,,ENST00000577820,;ISYNA1,non_coding_transcript_exon_variant,,ENST00000577916,;ISYNA1,intron_variant,,ENST00000582770,;ISYNA1,upstream_gene_variant,,ENST00000583816,;ISYNA1,upstream_gene_variant,,ENST00000582287,;SSBP4,downstream_gene_variant,,ENST00000600244,;SSBP4,downstream_gene_variant,,ENST00000607020,;SSBP4,downstream_gene_variant,,ENST00000601919,;SSBP4,downstream_gene_variant,,ENST00000601444,;ISYNA1,upstream_gene_variant,,ENST00000583309,;							LOW	516/1677		INO1_HUMAN			Transcript			.	ENSP00000337746		CCDS12379.1			1	
RRP12	0	LGGM	GRCh37	10	99130825	99130825	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	8	2	.	.	ENST00000370992.4:c.2357G>C	p.Gly786Ala	p.G786A	ENST00000370992	NM_015179.3	786	gGg/gCg	0	1	1	UPI000013E51C	0	NA	ENST00000370992		ENSG00000052749	29100		10	1.405		HGNC	p.G504A		RRP12		SNV							ENST00000536831	protein_coding	getma.org/?cm=var&var=hg19,10,99130825,C,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR21576,hmmpanther:PTHR21576:SF2,Superfamily_domains:SSF48371		G/A		G	low	2469/4399		getma.org/?cm=msa&ty=f&p=RRP12_HUMAN&rb=670&re=869&var=G786A	tolerated(0.23)				YES	RRP12,missense_variant,p.Gly786Ala,ENST00000370992,NM_015179.3;RRP12,missense_variant,p.Gly725Ala,ENST00000414986,NM_001145114.1;RRP12,missense_variant,p.Gly686Ala,ENST00000315563,NM_001284337.1;RRP12,missense_variant,p.Gly504Ala,ENST00000536831,;RRP12,non_coding_transcript_exon_variant,,ENST00000479481,;RRP12,upstream_gene_variant,,ENST00000491313,;RRP12,downstream_gene_variant,,ENST00000490815,;RRP12,upstream_gene_variant,,ENST00000487612,;							MODERATE	2357/3894	G786A	RRP12_HUMAN			Transcript		benign(0.004)	.	ENSP00000360031		CCDS7457.1			1	
KIF26A	0	LGGM	GRCh37	14	104643598	104643598	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	14	2	.	.	ENST00000423312.2:c.4473C>G	p.Pro1491=	p.P1491=	ENST00000423312	NM_015656.1	1491	ccC/ccG	0	1	1	UPI00006C145D	0		ENST00000423312		ENSG00000066735	20226		16			HGNC	p.P1352P		KIF26A		SNV							ENST00000315264	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407,Low_complexity_(Seg):seg		P		G		4473/5649				C9JFF0_HUMAN			YES	KIF26A,synonymous_variant,p.=,ENST00000315264,;KIF26A,synonymous_variant,p.=,ENST00000423312,NM_015656.1;							LOW	4473/5649		KI26A_HUMAN			Transcript			.	ENSP00000388241		CCDS45171.1			1	
UBXN11	0	LGGM	GRCh37	1	26608893	26608896	+	frameshift_variant	Frame_Shift_Del	DEL	GGAC	GGAC	-	novel	by Submitter	H050350	H050350N.bam	GGAC	GGAC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	4	2	.	.	ENST00000374222.1:c.1457_1460delGTCC	p.Cys486SerfsTer?	p.C486Sfs*?	ENST00000374222		486	tGTCCc/tc	0	1		UPI00004700E1	0		ENST00000374221		ENSG00000158062	30600		6			HGNC	p.453_454del	rs367932248	UBXN11		deletion							ENST00000374217	protein_coding			Low_complexity_(Seg):seg		CP/X		-		1671-1674/1792								UBXN11,frameshift_variant,p.Cys366SerfsTer76,ENST00000314675,NM_001077262.1;UBXN11,frameshift_variant,p.Cys486SerfsTer?,ENST00000374222,;UBXN11,frameshift_variant,p.Cys453SerfsTer?,ENST00000374217,NM_145345.2;UBXN11,frameshift_variant,p.Cys486SerfsTer?,ENST00000374221,NM_183008.2;UBXN11,frameshift_variant,p.Cys453SerfsTer?,ENST00000357089,;UBXN11,frameshift_variant,p.Cys243SerfsTer?,ENST00000374223,;CEP85,downstream_gene_variant,,ENST00000252992,NM_022778.3;CEP85,downstream_gene_variant,,ENST00000453146,;CEP85,downstream_gene_variant,,ENST00000451429,NM_001281517.1;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.3;UBXN11,downstream_gene_variant,,ENST00000436301,;UBXN11,downstream_gene_variant,,ENST00000374215,;UBXN11,downstream_gene_variant,,ENST00000535108,;UBXN11,downstream_gene_variant,,ENST00000452980,;SH3BGRL3,downstream_gene_variant,,ENST00000319041,;UBXN11,downstream_gene_variant,,ENST00000442942,;CEP85,downstream_gene_variant,,ENST00000469609,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;CEP85,downstream_gene_variant,,ENST00000476272,;							HIGH	1457-1460/1563		UBX11_HUMAN			Transcript			.	ENSP00000363338		CCDS41288.1			1	
OMP	0	LGGM	GRCh37	11	76814293	76814293	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	14	2	.	.	ENST00000529803.1:c.408C>A	p.Arg136=	p.R136=	ENST00000529803	NM_006189.1	136	cgC/cgA	0	1	1	UPI00001637C1	0		ENST00000529803		ENSG00000254550	8136		16			HGNC	p.R136R		OMP		SNV							ENST00000529803	protein_coding			Superfamily_domains:0037362,Gene3D:1f35A00,Pfam_domain:PF06554,hmmpanther:PTHR15357		R		A		408/492							YES	OMP,synonymous_variant,p.=,ENST00000529803,NM_006189.1;CAPN5,intron_variant,,ENST00000278559,NM_004055.4;CAPN5,intron_variant,,ENST00000456580,;CAPN5,intron_variant,,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,intron_variant,,ENST00000533889,;							LOW	408/492		OMP_HUMAN			Transcript			.	ENSP00000436376		CCDS53682.1			1	
CCDC74B	0	LGGM	GRCh37	2	130900240	130900240	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	2	2	.	.	ENST00000310463.6:c.296-286C>T		*99*	ENST00000310463	NM_207310.2			0	1	1	UPI000006D822	0		ENST00000310463		ENSG00000152076	25267		4			HGNC	p.L106L		CCDC74B		SNV							ENST00000392984	protein_coding							A		-/1549							YES	CCDC74B,synonymous_variant,p.=,ENST00000392984,;CCDC74B,intron_variant,,ENST00000310463,NM_207310.2;CCDC74B,intron_variant,,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,intron_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,intron_variant,,ENST00000423263,;CCDC74B,intron_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;							MODIFIER	-/1143		CC74B_HUMAN			Transcript			.	ENSP00000308873		CCDS2155.1			1	
RBBP9	0	LGGM	GRCh37	20	18470636	18470636	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	9	3	.	.	ENST00000337227.4:c.335-2A>G		p.X112_splice	ENST00000337227	NM_006606.2			0	1	1	UPI000013318F	0		ENST00000337227		ENSG00000089050	9892		12			HGNC	-		RBBP9		SNV							ENST00000337227	protein_coding							C		-/3861							YES	RBBP9,splice_acceptor_variant,,ENST00000337227,NM_006606.2;RBBP9,splice_acceptor_variant,,ENST00000493184,;RBBP9,splice_acceptor_variant,,ENST00000491835,;RPL21P3,downstream_gene_variant,,ENST00000395517,;							HIGH	335/561		RBBP9_HUMAN			Transcript			.	ENSP00000336866		CCDS13136.1			1	
UNC93B1	0	LGGM	GRCh37	11	67770537	67770537	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	9	3	.	.	ENST00000227471.2:c.347A>G	p.Asn116Ser	p.N116S	ENST00000227471	NM_030930.2	116	aAc/aGc	0	1	1	UPI000013C8B8	0		ENST00000227471		ENSG00000110057	13481		12			HGNC	p.N45S		UNC93B1		SNV			1				ENST00000528423	protein_coding			hmmpanther:PTHR19444:SF3,hmmpanther:PTHR19444,Transmembrane_helices:TMhelix		N/S		C		427/2313			tolerated(0.11)	E9PNE5_HUMAN			YES	UNC93B1,missense_variant,p.Asn116Ser,ENST00000227471,NM_030930.2;UNC93B1,missense_variant,p.Asn45Ser,ENST00000528423,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000530331,;UNC93B1,upstream_gene_variant,,ENST00000533966,;UNC93B1,missense_variant,p.Asn116Ser,ENST00000524455,;UNC93B1,3_prime_UTR_variant,,ENST00000531152,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000533424,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000528096,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000525743,;UNC93B1,non_coding_transcript_exon_variant,,ENST00000530138,;							MODERATE	347/1791		UN93B_HUMAN			Transcript		benign(0.297)	.	ENSP00000227471					1	
NRG1	0	LGGM	GRCh37	8	32505751	32505751	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	39	3	.	.	ENST00000356819.4:c.502+31348C>A		*168*	ENST00000356819	NM_013956.3			0	1		UPI000013DED6	0	NA	ENST00000405005		ENSG00000157168	7997		42	0.975		HGNC	p.P172Q		NRG1		SNV							ENST00000520502	protein_coding	getma.org/?cm=var&var=hg19,8,32505751,C,A&fts=all						A	low	-/1992		getma.org/?cm=msa&ty=f&p=H0YDC2_HUMAN&rb=1&re=196&var=P132Q		Q7RTW5_HUMAN,B7Z168_HUMAN				NRG1,missense_variant,p.Pro172Gln,ENST00000520502,NM_013959.3;NRG1,missense_variant,p.Pro132Gln,ENST00000523041,;NRG1,intron_variant,,ENST00000341377,NM_013964.3;NRG1,intron_variant,,ENST00000338921,;NRG1,intron_variant,,ENST00000356819,NM_013956.3,NM_001159999.1;NRG1,intron_variant,,ENST00000287845,;NRG1,intron_variant,,ENST00000523534,;NRG1,intron_variant,,ENST00000287842,NM_013957.3,NM_001160004.1;NRG1,intron_variant,,ENST00000523079,NM_001160008.1;NRG1,intron_variant,,ENST00000405005,;NRG1,intron_variant,,ENST00000520407,NM_013962.2;NRG1,intron_variant,,ENST00000519301,NM_001160001.1;NRG1,intron_variant,,ENST00000521670,NM_013960.3;NRG1,intron_variant,,ENST00000518104,NM_001159995.1;NRG1,intron_variant,,ENST00000518206,;NRG1,intron_variant,,ENST00000522569,;							MODIFIER	-/1923	P132Q	NRG1_HUMAN			Transcript			.	ENSP00000384620		CCDS6085.1			1	
GJE1	0	LGGM	GRCh37	6	142455983	142455983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	15	3	.	.	ENST00000450456.2:c.542C>A	p.Thr181Lys	p.T181K	ENST00000450456		181	aCa/aAa	0	1	1	UPI0000D614E3	0		ENST00000450456		ENSG00000203733	33251		18			HGNC	p.T181K		GJE1		SNV							ENST00000450456	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11984:SF1,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF10582,SMART_domains:SM01089		T/K		A		611/916			deleterious(0.05)				YES	GJE1,missense_variant,p.Thr181Lys,ENST00000450456,;							MODERATE	542/618		CXE1_HUMAN			Transcript		benign(0.002)	.	ENSP00000455469					1	
IGF1R	0	LGGM	GRCh37	15	99459322	99459322	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	45	3	.	.	ENST00000268035.6:c.1958A>G	p.Gln653Arg	p.Q653R	ENST00000268035	NM_000875.3	653	cAg/cGg	0	1	1	UPI000012D3EA	0	getma.org/pdb.php?prot=IGF1R_HUMAN&from=611&to=689&var=Q653R	ENST00000268035		ENSG00000140443	5465		48	1.15		HGNC	p.Q653R		IGF1R		SNV			1				ENST00000558762	protein_coding	getma.org/?cm=var&var=hg19,15,99459322,A,G&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853		Q/R		G	low	2569/11803		getma.org/?cm=msa&ty=f&p=IGF1R_HUMAN&rb=611&re=689&var=Q653R	deleterious(0)	H0YNR0_HUMAN,H0YMJ5_HUMAN			YES	IGF1R,missense_variant,p.Gln653Arg,ENST00000268035,NM_000875.3;IGF1R,missense_variant,p.Gln653Arg,ENST00000558762,;IGF1R,downstream_gene_variant,,ENST00000558898,;IGF1R,downstream_gene_variant,,ENST00000559582,;IGF1R,synonymous_variant,p.=,ENST00000560144,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,upstream_gene_variant,,ENST00000561049,;							MODERATE	1958/4104	Q653R	IGF1R_HUMAN			Transcript		benign(0.028)	.	ENSP00000268035		CCDS10378.1			1	
LY75	0	LGGM	GRCh37	2	160735839	160735839	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	50	4	.	.	ENST00000504764.1:c.1446A>G	p.Lys482=	p.K482=	ENST00000504764	NM_001198759.1	482	aaA/aaG	0	1		UPI00001AE885	0		ENST00000263636		ENSG00000054219	6729		54			HGNC	p.K482K		LY75		SNV							ENST00000553424	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00034,Superfamily_domains:SSF56436		K		C		1474/6886								LY75,synonymous_variant,p.=,ENST00000263636,NM_002349.3;LY75-CD302,synonymous_variant,p.=,ENST00000504764,NM_001198759.1;LY75,synonymous_variant,p.=,ENST00000554112,;LY75-CD302,synonymous_variant,p.=,ENST00000505052,NM_001198760.1;LY75,synonymous_variant,p.=,ENST00000553424,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;							LOW	1446/5169		LY75_HUMAN			Transcript			.	ENSP00000263636		CCDS2211.1			1	
CPLX3	0	LGGM	GRCh37	15	75119165	75119165	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	11	5	.	.	ENST00000395018.4:c.121C>T	p.Arg41Trp	p.R41W	ENST00000395018	NM_001030005.2	41	Cgg/Tgg	0	1	1	UPI000006F91A	0	NA	ENST00000395018		ENSG00000213578	27652		16	1.975		HGNC	p.R41W		CPLX3		SNV							ENST00000395018	protein_coding	getma.org/?cm=var&var=hg19,15,75119165,C,T&fts=all		Pfam_domain:PF05835,hmmpanther:PTHR16705,hmmpanther:PTHR16705:SF5		R/W		T	medium	278/2080		getma.org/?cm=msa&ty=f&p=CPLX3_HUMAN&rb=1&re=140&var=R41W	deleterious(0)				YES	CPLX3,missense_variant,p.Arg41Trp,ENST00000395018,NM_001030005.2;LMAN1L,downstream_gene_variant,,ENST00000309664,NM_021819.2;LMAN1L,downstream_gene_variant,,ENST00000379709,;LMAN1L,downstream_gene_variant,,ENST00000567848,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000564823,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,downstream_gene_variant,,ENST00000565585,;LMAN1L,downstream_gene_variant,,ENST00000566046,;							MODERATE	121/477	R41W	CPLX3_HUMAN			Transcript		possibly_damaging(0.636)	.	ENSP00000378464		CCDS32294.1			1	
OR2AP1	0	LGGM	GRCh37	12	55968869	55968869	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	98	5	.	.	ENST00000321688.1:c.671T>A	p.Leu224Gln	p.L224Q	ENST00000321688	NM_001258285.1	224	cTg/cAg	0	1	1	UPI000004B228	0		ENST00000321688		ENSG00000179615	15335		103			HGNC	p.L224Q		OR2AP1		SNV							ENST00000321688	protein_coding			Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF16,PROSITE_profiles:PS50262		L/Q		A		671/930			deleterious_low_confidence(0)				YES	OR2AP1,missense_variant,p.Leu224Gln,ENST00000321688,NM_001258285.1;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;							MODERATE	671/930		O2AP1_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000323423		CCDS58241.1			1	
TMPRSS3	0	LGGM	GRCh37	21	43809154	43809154	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	9	6	.	.	ENST00000291532.3:c.206T>C	p.Ile69Thr	p.I69T	ENST00000291532	NM_032404.2	69	aTc/aCc	0	1	1	UPI0000047B13	0	NA	ENST00000291532		ENSG00000160183	11877		15	0.55		HGNC	p.I69T		TMPRSS3		SNV			1				ENST00000398397	protein_coding	getma.org/?cm=var&var=hg19,21,43809154,A,G&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42		I/T		G	neutral	1162/3193		getma.org/?cm=msa&ty=f&p=TMPS3_HUMAN&rb=1&re=71&var=I69T	deleterious(0.01)				YES	TMPRSS3,missense_variant,p.Ile69Thr,ENST00000291532,NM_032404.2;TMPRSS3,missense_variant,p.Ile153Thr,ENST00000380399,;TMPRSS3,missense_variant,p.Ile67Thr,ENST00000398405,;TMPRSS3,missense_variant,p.Ile69Thr,ENST00000433957,NM_001256317.1,NM_024022.2;TMPRSS3,missense_variant,p.Ile69Thr,ENST00000398397,NM_032405.1;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,splice_region_variant,,ENST00000482761,;							MODERATE	206/1365	I69T	TMPS3_HUMAN			Transcript		benign(0.089)	.	ENSP00000291532		CCDS13686.1			1	
CARD11	0	LGGM	GRCh37	7	2983864	2983864	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	31	6	.	.	ENST00000396946.4:c.666C>A	p.Ser222Arg	p.S222R	ENST00000396946	NM_032415.4	222	agC/agA	0	1	1	UPI00003FED38	0	NA	ENST00000396946		ENSG00000198286	16393		37	1.445		HGNC	p.S222R	COSM85860	CARD11		SNV			1			1	ENST00000396946	protein_coding	getma.org/?cm=var&var=hg19,7,2983864,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10		S/R		T	low	1070/4366		getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=110&re=309&var=S222R	deleterious(0)	Q8TES3_HUMAN,E2QRC0_HUMAN			YES	CARD11,missense_variant,p.Ser222Arg,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,non_coding_transcript_exon_variant,,ENST00000423194,;					1		MODERATE	666/3465	S222R	CAR11_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000380150		CCDS5336.2			1	
GRID2	0	LGGM	GRCh37	4	94436399	94436399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	3	7	.	.	ENST00000282020.4:c.2030T>C	p.Ile677Thr	p.I677T	ENST00000282020	NM_001510.2	677	aTc/aCc	0	1	1	UPI00001AEA78	0	getma.org/pdb.php?prot=GRID2_HUMAN&from=566&to=842&var=I677T	ENST00000282020		ENSG00000152208	4576		10	3.15		HGNC	p.I677T		GRID2		SNV			1				ENST00000282020	protein_coding	getma.org/?cm=var&var=hg19,4,94436399,T,C&fts=all		hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00497,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850		I/T		C	medium	2288/5340		getma.org/?cm=msa&ty=f&p=GRID2_HUMAN&rb=566&re=842&var=I677T	deleterious(0.01)	Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN			YES	GRID2,missense_variant,p.Ile677Thr,ENST00000282020,NM_001510.2;GRID2,missense_variant,p.Ile582Thr,ENST00000510992,NM_001286838.1;							MODERATE	2030/3024	I677T	GRID2_HUMAN			Transcript		possibly_damaging(0.777)	.	ENSP00000282020		CCDS3637.1			1	
LRTOMT	0	LGGM	GRCh37	11	71819015	71819015	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	1	7	.	.	ENST00000435085.1:c.405G>A	p.Val135=	p.V135=	ENST00000435085	NM_001145309.3	135	gtG/gtA	0	1	1	UPI00019150CB	0		ENST00000435085		ENSG00000184154	25033		8			HGNC	p.V135V		LRTOMT		SNV			1				ENST00000307198	protein_coding			Gene3D:3.40.50.150,Pfam_domain:PF01596,PROSITE_profiles:PS51682,hmmpanther:PTHR10509,hmmpanther:PTHR10509:SF1,Superfamily_domains:SSF53335		V		A		1497/3822							YES	LRTOMT,synonymous_variant,p.=,ENST00000435085,NM_001145309.3;LRTOMT,synonymous_variant,p.=,ENST00000419228,NM_001145310.3;LRTOMT,synonymous_variant,p.=,ENST00000307198,NM_001145308.4;ANAPC15,intron_variant,,ENST00000502597,;ANAPC15,intron_variant,,ENST00000543050,;LRTOMT,intron_variant,,ENST00000439209,;LAMTOR1,upstream_gene_variant,,ENST00000538404,;LAMTOR1,upstream_gene_variant,,ENST00000278671,NM_017907.2;LAMTOR1,upstream_gene_variant,,ENST00000545249,;ANAPC15,downstream_gene_variant,,ENST00000227618,NM_001278485.1,NM_014042.2,NM_001278491.1;ANAPC15,downstream_gene_variant,,ENST00000543587,NM_001278486.1;ANAPC15,downstream_gene_variant,,ENST00000545680,;ANAPC15,downstream_gene_variant,,ENST00000538393,NM_001278487.1;ANAPC15,downstream_gene_variant,,ENST00000538919,NM_001278494.1;ANAPC15,downstream_gene_variant,,ENST00000535234,NM_001278489.1;ANAPC15,downstream_gene_variant,,ENST00000542531,NM_001278493.1,NM_001278492.1;ANAPC15,downstream_gene_variant,,ENST00000535503,NM_001278488.1;ANAPC15,downstream_gene_variant,,ENST00000545944,NM_001278490.1;LAMTOR1,upstream_gene_variant,,ENST00000535107,;ANAPC15,downstream_gene_variant,,ENST00000537644,;ANAPC15,downstream_gene_variant,,ENST00000539395,;ANAPC15,downstream_gene_variant,,ENST00000545333,;ANAPC15,downstream_gene_variant,,ENST00000438939,;snoU13,downstream_gene_variant,,ENST00000459046,;ANAPC15,downstream_gene_variant,,ENST00000543015,;LRTOMT,3_prime_UTR_variant,,ENST00000427369,;LRTOMT,3_prime_UTR_variant,,ENST00000544409,;LRTOMT,non_coding_transcript_exon_variant,,ENST00000541899,;LAMTOR1,upstream_gene_variant,,ENST00000535872,;ANAPC15,downstream_gene_variant,,ENST00000538117,;LAMTOR1,upstream_gene_variant,,ENST00000541403,;							LOW	405/876		TOMT_HUMAN			Transcript			.	ENSP00000409789		CCDS44668.1			1	
NCAPD3	0	LGGM	GRCh37	11	134029835	134029835	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	9	8	.	.	ENST00000534548.2:c.3819A>T	p.Ala1273=	p.A1273=	ENST00000534548	NM_015261.2	1273	gcA/gcT	0	1	1	UPI00001C1EFE	0		ENST00000534548		ENSG00000151503	28952		17			HGNC	p.A1273A		NCAPD3		SNV							ENST00000534548	protein_coding			PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222,hmmpanther:PTHR14222:SF1		A		A		3884/5061				Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN			YES	NCAPD3,synonymous_variant,p.=,ENST00000534548,NM_015261.2;NCAPD3,synonymous_variant,p.=,ENST00000527944,;NCAPD3,downstream_gene_variant,,ENST00000530396,;NCAPD3,3_prime_UTR_variant,,ENST00000534532,;NCAPD3,3_prime_UTR_variant,,ENST00000525964,;NCAPD3,upstream_gene_variant,,ENST00000525432,;							LOW	3819/4497		CNDD3_HUMAN			Transcript			.	ENSP00000433681		CCDS31723.1			1	
ABCC9	0	LGGM	GRCh37	12	22001096	22001096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	20	8	.	.	ENST00000261200.4:c.2854G>T	p.Asp952Tyr	p.D952Y	ENST00000261200	NM_020297.2	952	Gac/Tac	0	1		UPI000013D141	0	NA	ENST00000261201		ENSG00000069431	60		28	1.905		HGNC	p.D952Y		ABCC9		SNV			1				ENST00000261200	protein_coding	getma.org/?cm=var&var=hg19,12,22001096,C,A&fts=all		hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		D/Y		A	medium	2854/4650		getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=841&re=993&var=D952Y	deleterious(0)					ABCC9,missense_variant,p.Asp952Tyr,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.Asp952Tyr,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.Asp916Tyr,ENST00000345162,;ABCC9,missense_variant,p.Asp579Tyr,ENST00000544039,;RP11-729I10.2,intron_variant,,ENST00000539874,;							MODERATE	2854/4650	D952Y	ABCC9_HUMAN			Transcript		benign(0.379)	.	ENSP00000261201		CCDS8694.1			1	
ROCK2	0	LGGM	GRCh37	2	11338846	11338846	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	12	9	.	.	ENST00000315872.6:c.2965A>G	p.Lys989Glu	p.K989E	ENST00000315872	NM_004850.3	989	Aaa/Gaa	0	1	1	UPI000034ECB0	0	getma.org/pdb.php?prot=ROCK2_HUMAN&from=978&to=1046&var=K989E	ENST00000315872		ENSG00000134318	10252		21	2.255		HGNC	p.K989E		ROCK2		SNV							ENST00000315872	protein_coding	getma.org/?cm=var&var=hg19,2,11338846,T,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988:SF24,hmmpanther:PTHR22988,Gene3D:1.20.5.730,Pfam_domain:PF08912,PIRSF_domain:PIRSF037568,Superfamily_domains:SSF103652		K/E		C	medium	3414/8292		getma.org/?cm=msa&ty=f&p=ROCK2_HUMAN&rb=978&re=1046&var=K989E	deleterious(0.02)	Q14DU5_HUMAN,E9PF63_HUMAN			YES	ROCK2,missense_variant,p.Lys989Glu,ENST00000315872,NM_004850.3;ROCK2,missense_variant,p.Lys746Glu,ENST00000401753,;ROCK2,upstream_gene_variant,,ENST00000460262,;ROCK2,upstream_gene_variant,,ENST00000493096,;							MODERATE	2965/4167	K989E	ROCK2_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000317985		CCDS42654.1			1	
SAMD9L	0	LGGM	GRCh37	7	92765271	92765271	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	29	9	.	.	ENST00000318238.4:c.14T>C	p.Val5Ala	p.V5A	ENST00000318238	NM_152703.2	5	gTa/gCa	0	1	1	UPI000020F567	0	NA	ENST00000318238		ENSG00000177409	1349		38	0.69		HGNC	p.V5A		SAMD9L		SNV							ENST00000446033	protein_coding	getma.org/?cm=var&var=hg19,7,92765271,A,G&fts=all		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		V/A		G	neutral	1231/7134		getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=V5A	tolerated(0.64)	B4E3M1_HUMAN			YES	SAMD9L,missense_variant,p.Val5Ala,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Val5Ala,ENST00000411955,;SAMD9L,missense_variant,p.Val5Ala,ENST00000437805,;SAMD9L,missense_variant,p.Val5Ala,ENST00000446033,;SAMD9L,missense_variant,p.Val5Ala,ENST00000446959,;SAMD9L,missense_variant,p.Val5Ala,ENST00000439952,;SAMD9L,missense_variant,p.Val5Ala,ENST00000414791,;							MODERATE	14/4755	V5A	SAM9L_HUMAN			Transcript		benign(0.008)	.	ENSP00000326247		CCDS34681.1			1	
NALCN	0	LGGM	GRCh37	13	101736096	101736096	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	15	9	.	.	ENST00000251127.6:c.3549G>A	p.Lys1183=	p.K1183=	ENST00000251127	NM_052867.2	1183	aaG/aaA	0	1	1	UPI000004EBBD	0		ENST00000251127		ENSG00000102452	19082		24			HGNC	p.K1183K		NALCN		SNV			1				ENST00000251127	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176		K		T		3631/6816				B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;							LOW	3549/5217		NALCN_HUMAN			Transcript			.	ENSP00000251127		CCDS9498.1			1	
RP1	0	LGGM	GRCh37	8	55538622	55538622	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	22	10	.	.	ENST00000220676.1:c.2180G>T	p.Cys727Phe	p.C727F	ENST00000220676	NM_006269.1	727	tGt/tTt	0	1	1	UPI000013455B	0	NA	ENST00000220676		ENSG00000104237	10263		32	0.975		HGNC	p.C727F		RP1		SNV			1				ENST00000220676	protein_coding	getma.org/?cm=var&var=hg19,8,55538622,G,T&fts=all		hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		C/F		T	low	2328/7100		getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=694&re=754&var=C727F	tolerated(0.12)	A0FDN2_HUMAN			YES	RP1,missense_variant,p.Cys727Phe,ENST00000220676,NM_006269.1;							MODERATE	2180/6471	C727F	RP1_HUMAN			Transcript		possibly_damaging(0.736)	.	ENSP00000220676		CCDS6160.1			1	
AHNAK	0	LGGM	GRCh37	11	62292516	62292516	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	183	10	.	.	ENST00000378024.4:c.9373G>A	p.Val3125Met	p.V3125M	ENST00000378024	NM_001620.2	3125	Gtg/Atg	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		193	2.705		HGNC	p.V3125M	rs79187953	AHNAK		SNV	T:0			0.000192			ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62292516,C,T&fts=all	T:0	hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		V/M	T:0.0001	T	medium	9648/18787	4.50E-05	getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=3001&re=3200&var=V3125M		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN	T:0	T:0	YES	AHNAK,missense_variant,p.Val3125Met,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;		T:0.0002					MODERATE	9373/17673	V3125M	AHNK_HUMAN		T:0.001	Transcript		possibly_damaging(0.9)	.	ENSP00000367263	4.12E-05	CCDS31584.1		T:0	1	
OR1M1	0	LGGM	GRCh37	19	9204836	9204836	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	17	10	.	.	ENST00000429566.3:c.916A>T	p.Asn306Tyr	p.N306Y	ENST00000429566	NM_001004456.1	306	Aac/Tac	0	1	1	UPI0000041C29	0	NA	ENST00000429566		ENSG00000170929	8220		27	1.04		HGNC	p.N306Y		OR1M1		SNV							ENST00000429566	protein_coding	getma.org/?cm=var&var=hg19,19,9204836,A,T&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Superfamily_domains:SSF81321		N/Y		T	low	982/1035		getma.org/?cm=msa&ty=f&p=OR1M1_HUMAN&rb=284&re=313&var=N306Y	tolerated(0.58)				YES	OR1M1,missense_variant,p.Asn306Tyr,ENST00000429566,NM_001004456.1;							MODERATE	916/942	N306Y	OR1M1_HUMAN			Transcript		benign(0.068)	.	ENSP00000401966		CCDS32896.1			1	
CDCP1	0	LGGM	GRCh37	3	45137011	45137011	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	20	10	.	.	ENST00000296129.1:c.1074C>G	p.Thr358=	p.T358=	ENST00000296129	NM_022842.4	358	acC/acG	0	1	1	UPI000013E304	0		ENST00000296129		ENSG00000163814	24357		30			HGNC	p.T358T		CDCP1		SNV							ENST00000296129	protein_coding			hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0		T		C		1209/6006							YES	CDCP1,synonymous_variant,p.=,ENST00000296129,NM_022842.4;							LOW	1074/2511		CDCP1_HUMAN			Transcript			.	ENSP00000296129		CCDS2727.1			1	
MYO1F	0	LGGM	GRCh37	19	8601156	8601156	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	25	11	.	.	ENST00000338257.8:c.2023T>C	p.Phe675Leu	p.F675L	ENST00000338257	NM_012335.3	675	Ttt/Ctt	0	1	1	UPI00001678F0	0	getma.org/pdb.php?prot=MYO1F_HUMAN&from=19&to=677&var=F675L	ENST00000338257		ENSG00000142347	7600		36	3.595		HGNC	p.F675L		MYO1F		SNV							ENST00000338257	protein_coding	getma.org/?cm=var&var=hg19,19,8601156,A,G&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,PROSITE_profiles:PS51456		F/L		G	high	2291/4303		getma.org/?cm=msa&ty=f&p=MYO1F_HUMAN&rb=19&re=677&var=F675L	deleterious(0)	Q14779_HUMAN,M0QXU2_HUMAN			YES	MYO1F,missense_variant,p.Phe675Leu,ENST00000338257,NM_012335.3;MYO1F,missense_variant,p.Leu169Pro,ENST00000598005,;MYO1F,non_coding_transcript_exon_variant,,ENST00000597222,;MYO1F,downstream_gene_variant,,ENST00000602136,;							MODERATE	2023/3297	F675L	MYO1F_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000344871		CCDS42494.1			1	
SCAMP4	0	LGGM	GRCh37	19	1918930	1918930	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	22	11	.	.	ENST00000316097.8:c.336C>T	p.Phe112=	p.F112=	ENST00000316097	NM_079834.2	112	ttC/ttT	0	1	1	UPI000006F786	0		ENST00000316097		ENSG00000227500	30385		33			HGNC	p.F112F	rs779272150	SCAMP4	0.00024	SNV							ENST00000411971	protein_coding			Pfam_domain:PF04144,hmmpanther:PTHR10687:SF11,hmmpanther:PTHR10687,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		F		T		603/2690				K7EJJ4_HUMAN,C9JWM2_HUMAN			YES	SCAMP4,synonymous_variant,p.=,ENST00000316097,NM_079834.2;SCAMP4,synonymous_variant,p.=,ENST00000411971,;SCAMP4,intron_variant,,ENST00000409472,;SCAMP4,downstream_gene_variant,,ENST00000590266,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000414057,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000489554,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000460767,;SCAMP4,intron_variant,,ENST00000585335,;SCAMP4,downstream_gene_variant,,ENST00000588907,;SCAMP4,non_coding_transcript_exon_variant,,ENST00000452128,;SCAMP4,upstream_gene_variant,,ENST00000472442,;							LOW	336/690		SCAM4_HUMAN			Transcript			.	ENSP00000316007	2.48E-05	CCDS45903.1			1	
F12	0	LGGM	GRCh37	5	176831644	176831644	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	4	11	.	.	ENST00000253496.3:c.656A>T	p.Asp219Val	p.D219V	ENST00000253496	NM_000505.3	219	gAt/gTt	0	1	1	UPI000048055F	0	getma.org/pdb.php?prot=FA12_HUMAN&from=217&to=295&var=D219V	ENST00000253496		ENSG00000131187	3530		15	0.105		HGNC	p.D219V		F12		SNV			1				ENST00000253496	protein_coding	getma.org/?cm=var&var=hg19,5,176831644,T,A&fts=all		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001146,Prints_domain:PR00018,PROSITE_profiles:PS50070,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF75,SMART_domains:SM00130,Superfamily_domains:SSF57440		D/V		A	neutral	705/2049		getma.org/?cm=msa&ty=f&p=FA12_HUMAN&rb=217&re=295&var=D219V	tolerated(0.48)	Q96EF3_HUMAN			YES	F12,missense_variant,p.Asp219Val,ENST00000253496,NM_000505.3;GRK6,intron_variant,,ENST00000506296,;GRK6,intron_variant,,ENST00000502598,;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2;F12,upstream_gene_variant,,ENST00000514943,;F12,intron_variant,,ENST00000503736,;F12,upstream_gene_variant,,ENST00000510358,;F12,upstream_gene_variant,,ENST00000502854,;F12,upstream_gene_variant,,ENST00000504406,;							MODERATE	656/1848	D219V	FA12_HUMAN			Transcript		benign(0.158)	.	ENSP00000253496		CCDS34302.1			1	
KRIT1	0	LGGM	GRCh37	7	91842703	91842703	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	6	12	.	.	ENST00000394507.1:c.1831A>G	p.Ser611Gly	p.S611G	ENST00000394507	NM_194456.1	611	Agt/Ggt	0	1		UPI000006F5AA	0	getma.org/pdb.php?prot=KRIT1_HUMAN&from=517&to=640&var=S611G	ENST00000340022		ENSG00000001631	1573		18	1.67		HGNC	p.S611G		KRIT1		SNV			1				ENST00000340022	protein_coding	getma.org/?cm=var&var=hg19,7,91842703,T,C&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR13283,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031		S/G		C	low	2850/4553		getma.org/?cm=msa&ty=f&p=KRIT1_HUMAN&rb=517&re=640&var=S611G	tolerated(0.25)	C9JXI9_HUMAN,C9JSG7_HUMAN,C9JJM9_HUMAN,C9JI47_HUMAN,C9JF32_HUMAN,C9JEW7_HUMAN,C9JD81_HUMAN,C9JBN7_HUMAN,C9J718_HUMAN,C9J3W7_HUMAN,A4D1F7_HUMAN				KRIT1,missense_variant,p.Ser611Gly,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Ser611Gly,ENST00000340022,NM_004912.3,NM_194455.1;KRIT1,missense_variant,p.Ser611Gly,ENST00000412043,;KRIT1,missense_variant,p.Ser611Gly,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Ser563Gly,ENST00000394503,NM_001013406.1;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,non_coding_transcript_exon_variant,,ENST00000475770,;							MODERATE	1831/2211	S611G	KRIT1_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000344668		CCDS5624.1			1	
MYLK2	0	LGGM	GRCh37	20	30414515	30414515	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	14	12	.	.	ENST00000375994.2:c.1080G>T	p.Glu360Asp	p.E360D	ENST00000375994		360	gaG/gaT	0	1		UPI0000041851	0	getma.org/pdb.php?prot=MYLK2_HUMAN&from=285&to=540&var=E360D	ENST00000375985		ENSG00000101306	16243		26	2.315		HGNC	p.E360D		MYLK2		SNV			1				ENST00000375994	protein_coding	getma.org/?cm=var&var=hg19,20,30414515,G,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF118,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/D		T	medium	1184/2787		getma.org/?cm=msa&ty=f&p=MYLK2_HUMAN&rb=285&re=540&var=E360D	deleterious(0.01)					MYLK2,missense_variant,p.Glu360Asp,ENST00000375994,;MYLK2,missense_variant,p.Glu360Asp,ENST00000375985,NM_033118.3;MYLK2,upstream_gene_variant,,ENST00000468730,;							MODERATE	1080/1791	E360D	MYLK2_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000365152		CCDS13191.1			1	
PARD6G	0	LGGM	GRCh37	18	77918046	77918046	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	8	12	.	.	ENST00000353265.3:c.739G>C	p.Val247Leu	p.V247L	ENST00000353265	NM_032510.3	247	Gtc/Ctc	0	1	1	UPI000006DC0F	0	getma.org/pdb.php?prot=PAR6G_HUMAN&from=158&to=248&var=V247L	ENST00000353265		ENSG00000178184	16076		20	2.335		HGNC	p.V247L		PARD6G		SNV							ENST00000353265	protein_coding	getma.org/?cm=var&var=hg19,18,77918046,C,G&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF3,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		V/L		G	medium	937/3868		getma.org/?cm=msa&ty=f&p=PAR6G_HUMAN&rb=158&re=248&var=V247L	deleterious(0)				YES	PARD6G,missense_variant,p.Val247Leu,ENST00000353265,NM_032510.3;AC139100.2,intron_variant,,ENST00000586421,;AC139100.2,intron_variant,,ENST00000589574,;AC139100.2,intron_variant,,ENST00000587254,;AC139100.2,intron_variant,,ENST00000585422,;							MODERATE	739/1131	V247L	PAR6G_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000343144		CCDS12022.1			1	
SPATA6	0	LGGM	GRCh37	1	48865211	48865213	+	inframe_deletion	In_Frame_Del	DEL	TAC	TAC	-	novel	by Submitter	H050350	H050350N.bam	TAC	TAC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	30	12	.	.	ENST00000371847.3:c.590_592del	p.Ser197del	p.S197del	ENST00000371847	NM_019073.2	197	aGTAaa/aaa	0	1	1	UPI0000049C41	0		ENST00000371847		ENSG00000132122	18309		42			HGNC	p.125_126del		SPATA6		deletion							ENST00000396199	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16435:SF3,hmmpanther:PTHR16435		SK/K		-		755-757/4973							YES	SPATA6,inframe_deletion,p.Ser197del,ENST00000371847,NM_019073.2,NM_001286239.1;SPATA6,inframe_deletion,p.Ser197del,ENST00000371843,NM_001286238.1;SPATA6,inframe_deletion,p.Ser125del,ENST00000396199,;SPATA6,inframe_deletion,p.Ser38del,ENST00000371841,;SPATA6,non_coding_transcript_exon_variant,,ENST00000463938,;SPATA6,non_coding_transcript_exon_variant,,ENST00000490850,;SPATA6,inframe_deletion,p.Ser44del,ENST00000603831,;SPATA6,downstream_gene_variant,,ENST00000487543,;							MODERATE	590-592/1467		SPAT6_HUMAN			Transcript			.	ENSP00000360913		CCDS551.1			1	
DNAJC16	0	LGGM	GRCh37	1	15893594	15893594	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	1	13	.	.	ENST00000375847.3:c.1779C>G	p.Ser593Arg	p.S593R	ENST00000375847	NM_015291.2	593	agC/agG	0	1	1	UPI000000DBDB	0	NA	ENST00000375847		ENSG00000116138	29157		14	1.795		HGNC	p.S593R		DNAJC16		SNV							ENST00000375847	protein_coding	getma.org/?cm=var&var=hg19,1,15893594,C,G&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143		S/R		G	low	1943/6069		getma.org/?cm=msa&ty=f&p=DJC16_HUMAN&rb=446&re=645&var=S593R	tolerated(0.22)	B3KMS3_HUMAN			YES	DNAJC16,missense_variant,p.Ser593Arg,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,missense_variant,p.Ser593Arg,ENST00000375849,;DNAJC16,downstream_gene_variant,,ENST00000375838,;RP4-680D5.8,upstream_gene_variant,,ENST00000606186,;DNAJC16,splice_region_variant,,ENST00000483270,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000490811,;DNAJC16,upstream_gene_variant,,ENST00000495523,;DNAJC16,downstream_gene_variant,,ENST00000479655,;DNAJC16,splice_region_variant,,ENST00000475133,;DNAJC16,splice_region_variant,,ENST00000472665,;							MODERATE	1779/2349	S593R	DJC16_HUMAN			Transcript		benign(0.049)	.	ENSP00000365007		CCDS30606.1			1	
IL22	0	LGGM	GRCh37	12	68647087	68647087	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	14	13	.	.	ENST00000538666.1:c.142C>T	p.Gln48Ter	p.Q48*	ENST00000538666		48	Cag/Tag	0	1		UPI0000034E46	0	NA	ENST00000328087		ENSG00000127318	14900		27	0		HGNC	p.Q48X		IL22		SNV							ENST00000538666	protein_coding	getma.org/?cm=var&var=hg19,12,68647087,G,A&fts=all		hmmpanther:PTHR14263:SF2,hmmpanther:PTHR14263,Pfam_domain:PF14565,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF037726,Superfamily_domains:SSF47266,Prints_domain:PR01936		Q/*		A	NA	195/1147		NA						IL22,stop_gained,p.Gln48Ter,ENST00000538666,;IL22,stop_gained,p.Gln48Ter,ENST00000328087,NM_020525.4;							HIGH	142/540	Q48*	IL22_HUMAN			Transcript			.	ENSP00000329384		CCDS8982.1			1	
ARMC3	0	LGGM	GRCh37	10	23326274	23326274	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	50	13	.	.	ENST00000298032.5:c.2485C>A	p.Leu829Met	p.L829M	ENST00000298032	NM_173081.3	829	Ctg/Atg	0	1	1	UPI0000161785	0	NA	ENST00000298032		ENSG00000165309	30964		63	2.01		HGNC	p.L822M		ARMC3		SNV							ENST00000409983	protein_coding	getma.org/?cm=var&var=hg19,10,23326274,C,A&fts=all		Pfam_domain:PF14381,hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315		L/M		A	medium	2569/2811		getma.org/?cm=msa&ty=f&p=ARMC3_HUMAN&rb=719&re=860&var=L829M	deleterious(0)	C9JC46_HUMAN,B4DXS3_HUMAN			YES	ARMC3,missense_variant,p.Leu829Met,ENST00000298032,NM_173081.3;ARMC3,missense_variant,p.Leu822Met,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Leu566Met,ENST00000376528,NM_001282747.1;							MODERATE	2485/2619	L829M	ARMC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000298032		CCDS7142.1			1	
TSSK4	0	LGGM	GRCh37	14	24676338	24676348	+	frameshift_variant	Frame_Shift_Del	DEL	TCTGCTGCTGG	TCTGCTGCTGG	-	novel	by Submitter	H050350	H050350N.bam	TCTGCTGCTGG	TCTGCTGCTGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	36	14	.	.	ENST00000339917.5:c.458_468del	p.Ser153Ter	p.S153*	ENST00000339917	NM_001184739.1	153	TCTGCTGCTGGt/t	0	1		UPI000004673A	0		ENST00000287913		ENSG00000139908	19825		50			HGNC	p.153_156del		TSSK4		deletion							ENST00000339917	protein_coding							-		-/1257								TSSK4,frameshift_variant,p.Ser153Ter,ENST00000339917,NM_001184739.1,NM_174944.3;TSSK4,splice_region_variant,,ENST00000287913,;TSSK4,splice_region_variant,,ENST00000556621,;TM9SF1,intron_variant,,ENST00000556387,;TM9SF1,intron_variant,,ENST00000530611,;TSSK4,intron_variant,,ENST00000555092,;TSSK4,intron_variant,,ENST00000428351,;CHMP4A,downstream_gene_variant,,ENST00000347519,NM_014169.3;CHMP4A,downstream_gene_variant,,ENST00000530996,;CHMP4A,downstream_gene_variant,,ENST00000609024,;CHMP4A,downstream_gene_variant,,ENST00000533011,;TSSK4,upstream_gene_variant,,ENST00000553766,;CHMP4A,downstream_gene_variant,,ENST00000542700,;CHMP4A,downstream_gene_variant,,ENST00000531158,;TSSK4,non_coding_transcript_exon_variant,,ENST00000554420,;AL136419.6,downstream_gene_variant,,ENST00000565988,;CHMP4A,downstream_gene_variant,,ENST00000533523,;CHMP4A,downstream_gene_variant,,ENST00000552620,;CHMP4A,downstream_gene_variant,,ENST00000527154,;CHMP4A,downstream_gene_variant,,ENST00000534106,;CHMP4A,downstream_gene_variant,,ENST00000524955,;							LOW	-/987		TSSK4_HUMAN			Transcript	1		.	ENSP00000287913		CCDS9618.1			1	
GPI	0	LGGM	GRCh37	19	34890647	34890647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	15	14	.	.	ENST00000415930.3:c.1531G>A	p.Val511Ile	p.V511I	ENST00000415930	NM_001184722.1	511	Gtt/Att	0	1		UPI0000111E50	0	getma.org/pdb.php?prot=G6PI_HUMAN&from=54&to=546&var=V500I	ENST00000356487		ENSG00000105220	4458		29	2.14		HGNC	p.V511I	rs552424309	GPI	0.000969	SNV			1				ENST00000415930	protein_coding	getma.org/?cm=var&var=hg19,19,34890647,G,A&fts=all	A:0	PROSITE_profiles:PS51463,HAMAP:MF_00473,hmmpanther:PTHR11469:SF4,hmmpanther:PTHR11469,Gene3D:3.40.50.10490,Pfam_domain:PF00342,Superfamily_domains:SSF53697,Prints_domain:PR00662		V/I		A	medium	1739/2210		getma.org/?cm=msa&ty=f&p=G6PI_HUMAN&rb=54&re=546&var=V500I	deleterious_low_confidence(0.02)	K7EP41_HUMAN	A:0	A:0.002		GPI,missense_variant,p.Val511Ile,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Val500Ile,ENST00000356487,NM_000175.3;GPI,missense_variant,p.Val515Ile,ENST00000588991,;GPI,intron_variant,,ENST00000586425,;RP11-618P17.4,intron_variant,,ENST00000592740,;PDCD2L,upstream_gene_variant,,ENST00000246535,NM_032346.1;RP11-618P17.4,upstream_gene_variant,,ENST00000606020,;GPI,non_coding_transcript_exon_variant,,ENST00000586077,;GPI,non_coding_transcript_exon_variant,,ENST00000586392,;GPI,downstream_gene_variant,,ENST00000589985,;PDCD2L,upstream_gene_variant,,ENST00000587385,;	0.000231	A:0.0010					MODERATE	1498/1677	V500I	G6PI_HUMAN		A:0	Transcript		benign(0.034)	common_variant	ENSP00000348877	0.000148	CCDS12437.1		A:0.0031	1	
HYDIN	0	LGGM	GRCh37	16	70975605	70975605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	3	14	.	.	ENST00000393567.2:c.6787A>G	p.Ile2263Val	p.I2263V	ENST00000393567	NM_001270974.1	2263	Att/Gtt	0	1	1	UPI0001FEF4F9	0	getma.org/pdb.php?prot=HYDIN_HUMAN&from=2204&to=2270&var=I2263V	ENST00000393567		ENSG00000157423	19368		17	-1.375		HGNC	p.I2263V		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70975605,T,C&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		I/V		C	neutral	6938/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2204&re=2270&var=I2263V		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Ile2263Val,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;							MODERATE	6787/15366	I2263V	HYDIN_HUMAN			Transcript		benign(0)	.	ENSP00000377197		CCDS59269.1			1	
NFATC1	0	LGGM	GRCh37	18	77171247	77171247	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	21	15	.	.	ENST00000329101.4:c.933C>A	p.Ser311Arg	p.S311R	ENST00000329101	NM_172387.2	311	agC/agA	0	1		UPI000012FFB5	0	NA	ENST00000427363		ENSG00000131196	7775		36	1.67		HGNC	p.S324R		NFATC1		SNV							ENST00000253506	protein_coding	getma.org/?cm=var&var=hg19,18,77171247,C,A&fts=all		hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533		S/R		A	low	972/2832		getma.org/?cm=msa&ty=f&p=NFAC1_HUMAN&rb=241&re=427&var=S324R	tolerated(0.39)	F5H4S8_HUMAN				NFATC1,missense_variant,p.Ser324Arg,ENST00000253506,NM_006162.4,NM_001278670.1,NM_001278669.1;NFATC1,missense_variant,p.Ser311Arg,ENST00000329101,NM_172387.2;NFATC1,missense_variant,p.Ser311Arg,ENST00000318065,NM_001278672.1,NM_172389.2;NFATC1,missense_variant,p.Ser324Arg,ENST00000427363,;NFATC1,missense_variant,p.Ser324Arg,ENST00000591814,NM_172390.2;NFATC1,missense_variant,p.Ser311Arg,ENST00000592223,NM_001278675.1;NFATC1,missense_variant,p.Ser324Arg,ENST00000587635,;NFATC1,missense_variant,p.Ser324Arg,ENST00000542384,;NFATC1,missense_variant,p.Ser311Arg,ENST00000586434,;NFATC1,intron_variant,,ENST00000397790,NM_172388.2;NFATC1,intron_variant,,ENST00000545796,NM_001278673.1;NFATC1,intron_variant,,ENST00000590313,;							MODERATE	972/2832	S324R	NFAC1_HUMAN			Transcript		benign(0.439)	.	ENSP00000389377		CCDS62467.1			1	
DCC	0	LGGM	GRCh37	18	50994340	50994340	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	22	15	.	.	ENST00000442544.2:c.3696C>A	p.Ala1232=	p.A1232=	ENST00000442544	NM_005215.3	1232	gcC/gcA	0	1	1	UPI00001AEDC6	0		ENST00000442544		ENSG00000187323	2701		37			HGNC	p.A867A		DCC		SNV			1				ENST00000581580	protein_coding			Pfam_domain:PF06583,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68		A		A		4312/5721				J3QQJ6_HUMAN			YES	DCC,synonymous_variant,p.=,ENST00000442544,NM_005215.3;DCC,synonymous_variant,p.=,ENST00000581580,;							LOW	3696/4344		DCC_HUMAN			Transcript			.	ENSP00000389140		CCDS11952.1			1	
HEPH	0	LGGM	GRCh37	X	65474928	65474928	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	4	15	.	.	ENST00000519389.1:c.2777C>T	p.Pro926Leu	p.P926L	ENST00000519389		926	cCc/cTc	0	1		UPI000004D26F	0	getma.org/pdb.php?prot=HEPH_HUMAN&from=731&to=903&var=P872L	ENST00000343002		ENSG00000089472	4866		19	1.7		HGNC	p.P875L		HEPH		SNV							ENST00000441993	protein_coding	getma.org/?cm=var&var=hg19,X,65474928,C,T&fts=all		hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Superfamily_domains:SSF49503		P/L		T	low	3279/4854		getma.org/?cm=msa&ty=f&p=HEPH_HUMAN&rb=731&re=903&var=P872L	tolerated(0.1)	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN				HEPH,missense_variant,p.Pro926Leu,ENST00000519389,;HEPH,missense_variant,p.Pro872Leu,ENST00000343002,;HEPH,missense_variant,p.Pro875Leu,ENST00000374727,NM_138737.3;HEPH,missense_variant,p.Pro875Leu,ENST00000441993,NM_001130860.2;HEPH,missense_variant,p.Pro605Leu,ENST00000336279,NM_014799.2;HEPH,missense_variant,p.Pro683Leu,ENST00000419594,NM_001282141.1;							MODERATE	2615/3477	P872L	HEPH_HUMAN			Transcript		benign(0.019)	.	ENSP00000343939					1	
DDN	0	LGGM	GRCh37	12	49391198	49391198	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	10	15	.	.	ENST00000421952.2:c.1461G>T	p.Gly487=	p.G487=	ENST00000421952	NM_015086.1	487	ggG/ggT	0	1	1	UPI000019821C	0		ENST00000421952		ENSG00000181418	24458		25			HGNC	p.G487G	COSM3954817,COSM3954816	DDN		SNV						1,1	ENST00000421952	protein_coding			Pfam_domain:PF15498,hmmpanther:PTHR16757		G		A		1483/3749							YES	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,;					1,1		LOW	1461/2136		DEND_HUMAN			Transcript			.	ENSP00000390590		CCDS31791.2			1	
WNK4	0	LGGM	GRCh37	17	40948222	40948222	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	23	16	.	.	ENST00000246914.5:c.3513C>A	p.Pro1171=	p.P1171=	ENST00000246914	NM_032387.4	1171	ccC/ccA	0	1	1	UPI000006FC0F	0		ENST00000246914		ENSG00000126562	14544		39			HGNC	p.P1171P		WNK4		SNV			1				ENST00000246914	protein_coding					P		A		3534/4001				B0LPI0_HUMAN			YES	WNK4,synonymous_variant,p.=,ENST00000246914,NM_032387.4;CNTD1,upstream_gene_variant,,ENST00000588408,NM_173478.2;CNTD1,upstream_gene_variant,,ENST00000588527,;COA3,downstream_gene_variant,,ENST00000328434,NM_001040431.2;CNTD1,upstream_gene_variant,,ENST00000585355,;WNK4,downstream_gene_variant,,ENST00000587745,;CNTD1,upstream_gene_variant,,ENST00000591559,;WNK4,3_prime_UTR_variant,,ENST00000591448,;COA3,intron_variant,,ENST00000586680,;WNK4,downstream_gene_variant,,ENST00000592072,;CNTD1,upstream_gene_variant,,ENST00000592166,;							LOW	3513/3732		WNK4_HUMAN			Transcript			.	ENSP00000246914		CCDS11439.1			1	
CAMSAP1	0	LGGM	GRCh37	9	138707760	138707760	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	20	17	.	.	ENST00000389532.4:c.4363C>T	p.Leu1455=	p.L1455=	ENST00000389532	NM_015447.3	1455	Ctg/Ttg	0	1	1	UPI0000EDA283	0		ENST00000389532		ENSG00000130559	19946		37			HGNC	p.L1177L		CAMSAP1		SNV							ENST00000312405	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3		L		A		4428/7696							YES	CAMSAP1,synonymous_variant,p.=,ENST00000389532,NM_015447.3;CAMSAP1,synonymous_variant,p.=,ENST00000312405,;CAMSAP1,synonymous_variant,p.=,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,downstream_gene_variant,,ENST00000493088,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000482664,;CAMSAP1,intron_variant,,ENST00000487868,;							LOW	4363/4809		CAMP1_HUMAN			Transcript			.	ENSP00000374183		CCDS35176.2			1	
MUC16	0	LGGM	GRCh37	19	9070461	9070461	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	36	17	.	.	ENST00000397910.4:c.16985C>T	p.Ala5662Val	p.A5662V	ENST00000397910	NM_024690.2	5662	gCa/gTa	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		53	0.345		HGNC	p.A5662V		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9070461,G,A&fts=all		Low_complexity_(Seg):seg		A/V		A	neutral	17189/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5526&re=5666&var=A5664V		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ala5662Val,ENST00000397910,NM_024690.2;							MODERATE	16985/43524	A5664V				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
KRTAP15-1	0	LGGM	GRCh37	21	31812841	31812841	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	41	17	.	.	ENST00000334067.3:c.196A>G	p.Thr66Ala	p.T66A	ENST00000334067	NM_181623.1	66	Act/Gct	0	1	1	UPI000003B46E	0	NA	ENST00000334067		ENSG00000186970	18927		58	-1.1		HGNC	p.T66A		KRTAP15-1		SNV							ENST00000334067	protein_coding	getma.org/?cm=var&var=hg19,21,31812841,A,G&fts=all		Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF4		T/A		G	neutral	245/474		getma.org/?cm=msa&ty=f&p=KR151_HUMAN&rb=1&re=105&var=T66A	tolerated(0.19)				YES	KRTAP15-1,missense_variant,p.Thr66Ala,ENST00000334067,NM_181623.1;KRTAP13-5P,upstream_gene_variant,,ENST00000418755,;							MODERATE	196/414	T66A	KR151_HUMAN			Transcript		benign(0.009)	.	ENSP00000334866		CCDS13593.1			1	
PDGFD	0	LGGM	GRCh37	11	104034608	104034608	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	24	17	.	.	ENST00000393158.2:c.48C>A	p.Cys16Ter	p.C16*	ENST00000393158		16	tgC/tgA	0	1	1	UPI0000034811	0	NA	ENST00000393158		ENSG00000170962	30620		41	0		HGNC	p.C16X		PDGFD		SNV							ENST00000302251	protein_coding	getma.org/?cm=var&var=hg19,11,104034608,G,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM		C/*		T	NA	228/3801		NA					YES	PDGFD,stop_gained,p.Cys16Ter,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,stop_gained,p.Cys16Ter,ENST00000393158,;							HIGH	48/1113	C16*	PDGFD_HUMAN			Transcript			.	ENSP00000376865		CCDS41703.1			1	
PIK3CD	0	LGGM	GRCh37	1	9781258	9781258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	4	18	.	.	ENST00000377346.4:c.1763C>A	p.Pro588His	p.P588H	ENST00000377346	NM_005026.3	588	cCc/cAc	0	1	1	UPI000013E807	0	getma.org/pdb.php?prot=PK3CD_HUMAN&from=499&to=684&var=P588H	ENST00000377346		ENSG00000171608	8977		22	2.82		HGNC	p.P612H		PIK3CD		SNV			1				ENST00000361110	protein_coding	getma.org/?cm=var&var=hg19,1,9781258,C,A&fts=all		PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371		P/H		A	medium	1958/5203		getma.org/?cm=msa&ty=f&p=PK3CD_HUMAN&rb=499&re=684&var=P588H	deleterious(0)	B7ZM44_HUMAN			YES	PIK3CD,missense_variant,p.Pro612His,ENST00000536656,;PIK3CD,missense_variant,p.Pro588His,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Pro612His,ENST00000361110,;PIK3CD,missense_variant,p.Pro255His,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;							MODERATE	1763/3135	P588H	PK3CD_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000366563		CCDS104.1			1	
TCIRG1	0	LGGM	GRCh37	11	67817953	67817953	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	5	20	.	.	ENST00000265686.3:c.2237-1G>T		p.X746_splice	ENST00000265686	NM_006019.3			0	1	1	UPI000006EC9A	0		ENST00000265686		ENSG00000110719	11647		25			HGNC	-		TCIRG1		SNV			1				ENST00000265686	protein_coding							T		-/2677				Q6QBN6_HUMAN,E9PM12_HUMAN			YES	TCIRG1,splice_acceptor_variant,,ENST00000265686,NM_006019.3;TCIRG1,splice_acceptor_variant,,ENST00000532635,NM_006053.3;TCIRG1,intron_variant,,ENST00000530063,;CHKA,downstream_gene_variant,,ENST00000265689,NM_001277.2;CHKA,downstream_gene_variant,,ENST00000356135,NM_212469.1;TCIRG1,downstream_gene_variant,,ENST00000529364,;RP11-802E16.3,upstream_gene_variant,,ENST00000526897,;RP11-802E16.3,upstream_gene_variant,,ENST00000534517,;RP11-802E16.3,upstream_gene_variant,,ENST00000529934,;TCIRG1,intron_variant,,ENST00000530802,;CHKA,downstream_gene_variant,,ENST00000533728,;TCIRG1,splice_acceptor_variant,,ENST00000525724,;TCIRG1,splice_acceptor_variant,,ENST00000533005,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000530449,;CHKA,downstream_gene_variant,,ENST00000525155,;TCIRG1,downstream_gene_variant,,ENST00000524870,;TCIRG1,downstream_gene_variant,,ENST00000528981,;TCIRG1,downstream_gene_variant,,ENST00000525516,;							HIGH	2237/2493		VPP3_HUMAN			Transcript			.	ENSP00000265686		CCDS8177.1			1	
LPA	0	LGGM	GRCh37	6	160953633	160953633	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	28	20	.	.	ENST00000447678.1:c.5891A>T	p.Glu1964Val	p.E1964V	ENST00000447678	NM_005577.2	1964	gAg/gTg	0	1		UPI0000458AC9	0	getma.org/pdb.php?prot=APOA_HUMAN&from=4328&to=4541&var=E4472V	ENST00000316300		ENSG00000198670	6667		48	1.27		HGNC	p.E1964V		LPA		SNV			1				ENST00000447678	protein_coding	getma.org/?cm=var&var=hg19,6,160953633,T,A&fts=all		Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24261,PROSITE_profiles:PS50240		E/V		A	low	5936/6414		getma.org/?cm=msa&ty=f&p=APOA_HUMAN&rb=4328&re=4541&var=E4472V	deleterious(0.01)	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN				LPA,missense_variant,p.Glu1964Val,ENST00000447678,NM_005577.2;LPA,missense_variant,p.Glu1964Val,ENST00000316300,;							MODERATE	5891/6123	E4472V	APOA_HUMAN			Transcript		benign(0.001)	.	ENSP00000321334		CCDS43523.1			1	
IFNA4	0	LGGM	GRCh37	9	21187438	21187438	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	4	21	.	.	ENST00000421715.1:c.93C>T	p.Ser31=	p.S31=	ENST00000421715	NM_021068.2	31	agC/agT	0	1	1	UPI000002BA77	0		ENST00000421715		ENSG00000236637	5425		25			HGNC	p.S31S		IFNA4		SNV							ENST00000421715	protein_coding			Superfamily_domains:SSF47266,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29		S		A		161/982				Q9UMJ2_HUMAN			YES	IFNA4,synonymous_variant,p.=,ENST00000421715,NM_021068.2;IFNWP9,downstream_gene_variant,,ENST00000448683,;							LOW	93/570		IFNA4_HUMAN			Transcript			.	ENSP00000412897		CCDS6498.1			1	
OR6C1	0	LGGM	GRCh37	12	55714956	55714956	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	30	21	.	.	ENST00000379668.2:c.573A>T	p.Lys191Asn	p.K191N	ENST00000379668	NM_001005182.1	191	aaA/aaT	0	1	1	UPI000016150F	0	NA	ENST00000379668		ENSG00000205330	8355		51	-0.38		HGNC	p.K191N		OR6C1		SNV							ENST00000379668	protein_coding	getma.org/?cm=var&var=hg19,12,55714956,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,Superfamily_domains:SSF81321		K/N		T	neutral	611/1063		getma.org/?cm=msa&ty=f&p=OR6C1_HUMAN&rb=137&re=281&var=K191N	tolerated_low_confidence(0.52)				YES	OR6C1,missense_variant,p.Lys191Asn,ENST00000379668,NM_001005182.1;							MODERATE	573/939	K191N	OR6C1_HUMAN			Transcript		benign(0.012)	.	ENSP00000368990		CCDS31818.1			1	
HTT	0	LGGM	GRCh37	4	3190708	3190708	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	65	21	.	.	ENST00000355072.5:c.5256A>T	p.Leu1752Phe	p.L1752F	ENST00000355072	NM_002111.6	1752	ttA/ttT	0	1	1	UPI000013D567	0	NA	ENST00000355072		ENSG00000197386	4851		86	1.95		HGNC	p.L1752F		HTT		SNV			1				ENST00000355072	protein_coding	getma.org/?cm=var&var=hg19,4,3190708,A,T&fts=all		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10		L/F		T	medium	5401/13464		getma.org/?cm=msa&ty=f&p=HD_HUMAN&rb=1554&re=1753&var=L1752F		D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,missense_variant,p.Leu1752Phe,ENST00000355072,NM_002111.6;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;							MODERATE	5256/9429	L1752F	HD_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000347184		CCDS43206.1			1	
C17orf66	0	LGGM	GRCh37	17	34182137	34182137	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	33	21	.	.	ENST00000311880.2:c.1643C>T	p.Pro548Leu	p.P548L	ENST00000311880	NM_152781.2	548	cCa/cTa	0	1	1	UPI000013F215	0	NA	ENST00000311880		ENSG00000172653	26548		54	0.695		HGNC	p.P548L		C17orf66		SNV							ENST00000311880	protein_coding	getma.org/?cm=var&var=hg19,17,34182137,G,A&fts=all				P/L		A	neutral	1792/1974		getma.org/?cm=msa&ty=f&p=CQ066_HUMAN&rb=462&re=570&var=P548L	tolerated(0.08)				YES	C17orf66,missense_variant,p.Pro548Leu,ENST00000311880,NM_152781.2;C17orf66,missense_variant,p.Pro508Leu,ENST00000592980,;TAF15,intron_variant,,ENST00000586593,;C17orf66,3_prime_UTR_variant,,ENST00000585840,;C17orf66,non_coding_transcript_exon_variant,,ENST00000462028,;C17orf66,downstream_gene_variant,,ENST00000589015,;C17orf66,downstream_gene_variant,,ENST00000587573,;							MODERATE	1643/1713	P548L	CQ066_HUMAN			Transcript		benign(0.003)	.	ENSP00000309560		CCDS11299.1			1	
PCDHB7	0	LGGM	GRCh37	5	140552992	140552992	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	32	22	.	.	ENST00000231137.3:c.576C>T	p.Pro192=	p.P192=	ENST00000231137	NM_018940.2	192	ccC/ccT	0	1	1	UPI00001273E3	0		ENST00000231137		ENSG00000113212	8692		54			HGNC	p.P192P	COSM3242414	PCDHB7		SNV						1	ENST00000231137	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313		P		T		750/3715							YES	PCDHB7,synonymous_variant,p.=,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;					1		LOW	576/2382		PCDB7_HUMAN			Transcript			.	ENSP00000231137		CCDS4249.1			1	
CACNA1C	0	LGGM	GRCh37	12	2705054	2705054	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	117	22	.	.	ENST00000347598.4:c.2678G>A	p.Cys893Tyr	p.C893Y	ENST00000347598	NM_199460.2	893	tGc/tAc	0	1	1	UPI0000E593E5	0	NA	ENST00000347598		ENSG00000151067	1390		139	3.08		HGNC	p.C893Y		CACNA1C		SNV			1				ENST00000399629	protein_coding	getma.org/?cm=var&var=hg19,12,2705054,G,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Gene3D:1.20.120.350		C/Y		A	medium	2678/6655		getma.org/?cm=msa&ty=f&p=CAC1C_HUMAN&rb=753&re=952&var=C893Y	deleterious(0)	Q86XX0_HUMAN,O95234_HUMAN			YES	CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000406454,;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399617,NM_001167624.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Cys918Tyr,ENST00000335762,;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000480911,;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000344100,;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000327702,NM_001129830.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399621,;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399644,NM_001129841.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,missense_variant,p.Cys893Tyr,ENST00000399601,NM_001129843.1;CACNA1C,non_coding_transcript_exon_variant,,ENST00000465278,;							MODERATE	2678/6561	C893Y	CAC1C_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000266376		CCDS44788.1			1	
PLEKHG3	0	LGGM	GRCh37	14	65198162	65198162	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	18	22	.	.	ENST00000247226.7:c.765G>T	p.Val255=	p.V255=	ENST00000247226	NM_015549.1	255	gtG/gtT	0	1		UPI0000ECF248	0		ENST00000394691		ENSG00000126822	20364		40			HGNC	p.V311V		PLEKHG3		SNV							ENST00000394691	protein_coding			Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR22143,hmmpanther:PTHR22143:SF4,PROSITE_profiles:PS50003		V		T		1080/4396				G3V3I3_HUMAN,G3V311_HUMAN,G3V278_HUMAN				PLEKHG3,synonymous_variant,p.=,ENST00000247226,NM_015549.1;PLEKHG3,synonymous_variant,p.=,ENST00000394691,;PLEKHG3,downstream_gene_variant,,ENST00000554499,;PLEKHG3,downstream_gene_variant,,ENST00000555982,;PLEKHG3,downstream_gene_variant,,ENST00000554088,;PLEKHG3,downstream_gene_variant,,ENST00000556801,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;							LOW	933/3660		PKHG3_HUMAN			Transcript			.	ENSP00000378183					1	
TLN1	0	LGGM	GRCh37	9	35717736	35717736	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	23	23	.	.	ENST00000314888.9:c.2043C>T	p.Ala681=	p.A681=	ENST00000314888	NM_006289.3	681	gcC/gcT	0	1	1	UPI0000211375	0		ENST00000314888		ENSG00000137076	11845		46			HGNC	p.A681A		TLN1		SNV							ENST00000540444	protein_coding			Low_complexity_(Seg):seg,Superfamily_domains:SSF109885,Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981		A		A		2397/8823							YES	TLN1,synonymous_variant,p.=,ENST00000314888,NM_006289.3;TLN1,synonymous_variant,p.=,ENST00000540444,;							LOW	2043/7626		TLN1_HUMAN			Transcript			.	ENSP00000316029		CCDS35009.1			1	
CHD2	0	LGGM	GRCh37	15	93496662	93496662	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	34	25	.	.	ENST00000394196.4:c.1578G>T	p.Leu526=	p.L526=	ENST00000394196	NM_001271.3	526	ctG/ctT	0	1	1	UPI0000E8A85C	0		ENST00000394196		ENSG00000173575	1917		59			HGNC	p.L526L		CHD2		SNV			1				ENST00000557381	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,SMART_domains:SM00487,Superfamily_domains:SSF52540		L		T		2646/9857				Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,synonymous_variant,p.=,ENST00000394196,NM_001271.3;CHD2,synonymous_variant,p.=,ENST00000557381,;CHD2,downstream_gene_variant,,ENST00000420239,NM_001042572.2;CHD2,downstream_gene_variant,,ENST00000536619,;CHD2,non_coding_transcript_exon_variant,,ENST00000555582,;CHD2,downstream_gene_variant,,ENST00000556930,;							LOW	1578/5487		CHD2_HUMAN			Transcript			.	ENSP00000377747		CCDS10374.2			1	
VPS16	0	LGGM	GRCh37	20	2844015	2844015	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	29	25	.	.	ENST00000380445.3:c.1447A>T	p.Arg483Trp	p.R483W	ENST00000380445	NM_022575.2	483	Agg/Tgg	0	1	1	UPI0000138B87	0	NA	ENST00000380445		ENSG00000215305	14584		54	2.11		HGNC	p.R339W		VPS16		SNV							ENST00000380469	protein_coding	getma.org/?cm=var&var=hg19,20,2844015,A,T&fts=all		hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,PIRSF_domain:PIRSF007949		R/W		T	medium	1519/2750		getma.org/?cm=msa&ty=f&p=VPS16_HUMAN&rb=421&re=516&var=R483W	deleterious(0)	A1A4H0_HUMAN			YES	VPS16,missense_variant,p.Arg483Trp,ENST00000380445,NM_022575.2;VPS16,missense_variant,p.Arg339Trp,ENST00000380469,NM_080413.1;VPS16,missense_variant,p.Arg169Trp,ENST00000380443,;VPS16,missense_variant,p.Arg221Trp,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,;							MODERATE	1447/2520	R483W	VPS16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369810		CCDS13036.1			1	
CCDC144A	0	LGGM	GRCh37	17	16593814	16593814	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	30	26	.	.	ENST00000443444.2:c.100G>C	p.Asp34His	p.D34H	ENST00000443444		34	Gac/Cac	0	1		UPI0000F095D0	0	NA	ENST00000360524		ENSG00000170160	29072		56	0.69		HGNC	p.D34H		CCDC144A		SNV							ENST00000360495	protein_coding	getma.org/?cm=var&var=hg19,17,16593814,G,C&fts=all		hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245		D/H		C	neutral	176/5830		getma.org/?cm=msa&ty=f&p=C144B_HUMAN&rb=1&re=706&var=D34H	deleterious_low_confidence(0)					CCDC144A,missense_variant,p.Asp34His,ENST00000443444,;CCDC144A,missense_variant,p.Asp34His,ENST00000399273,;CCDC144A,missense_variant,p.Asp34His,ENST00000360524,NM_014695.1;CCDC144A,missense_variant,p.Asp34His,ENST00000456009,;CCDC144A,missense_variant,p.Asp34His,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,missense_variant,p.Asp34His,ENST00000448331,;CCDC144A,missense_variant,p.Asp34His,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000399264,;							MODERATE	100/4284	D34H	C144A_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000353717		CCDS45621.1			1	
NUP188	0	LGGM	GRCh37	9	131744948	131744948	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	21	27	.	.	ENST00000372577.2:c.1637T>C	p.Ile546Thr	p.I546T	ENST00000372577	NM_015354.2	546	aTt/aCt	0	1	1	UPI000041A60F	0	NA	ENST00000372577		ENSG00000095319	17859		48	0.895		HGNC	p.I546T	rs773818590	NUP188		SNV							ENST00000372577	protein_coding	getma.org/?cm=var&var=hg19,9,131744948,T,C&fts=all		hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Pfam_domain:PF10487		I/T		C	low	1658/5689		getma.org/?cm=msa&ty=f&p=NU188_HUMAN&rb=27&re=944&var=I546T	tolerated(0.16)				YES	NUP188,missense_variant,p.Ile546Thr,ENST00000372577,NM_015354.2;NUP188,upstream_gene_variant,,ENST00000491502,;NUP188,upstream_gene_variant,,ENST00000465344,;NUP188,upstream_gene_variant,,ENST00000477069,;							MODERATE	1637/5250	I546T	NU188_HUMAN			Transcript		benign(0.078)	.	ENSP00000361658		CCDS35156.1			1	
GALNT5	0	LGGM	GRCh37	2	158115775	158115775	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	39	29	.	.	ENST00000259056.4:c.1181T>A	p.Ile394Asn	p.I394N	ENST00000259056	NM_014568.1	394	aTc/aAc	0	1	1	UPI000019AD19	0	NA	ENST00000259056		ENSG00000136542	4127		68	1.1		HGNC	p.I394N		GALNT5		SNV							ENST00000259056	protein_coding	getma.org/?cm=var&var=hg19,2,158115775,T,A&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16		I/N		A	low	1666/6171		getma.org/?cm=msa&ty=f&p=GALT5_HUMAN&rb=390&re=498&var=I394N	tolerated(0.19)	Q68VJ5_HUMAN			YES	GALNT5,missense_variant,p.Ile394Asn,ENST00000259056,NM_014568.1;							MODERATE	1181/2823	I394N	GALT5_HUMAN			Transcript		benign(0.169)	.	ENSP00000259056		CCDS2203.1			1	
TRIP12	0	LGGM	GRCh37	2	230655915	230655915	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	32	29	.	.	ENST00000283943.5:c.4243A>G	p.Lys1415Glu	p.K1415E	ENST00000283943	NM_004238.1	1415	Aaa/Gaa	0	1	1	UPI000013739D	0	NA	ENST00000283943		ENSG00000153827	12306		61	0.895		HGNC	p.K1463E		TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230655915,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		K/E		C	low	4422/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=945&re=1627&var=K1415E	deleterious(0.04)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Lys1415Glu,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Lys1463Glu,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Lys1145Glu,ENST00000389045,NM_001284216.1;TRIP12,downstream_gene_variant,,ENST00000461189,;TRIP12,downstream_gene_variant,,ENST00000495322,;TRIP12,downstream_gene_variant,,ENST00000470302,;							MODERATE	4243/5979	K1415E	TRIPC_HUMAN			Transcript		possibly_damaging(0.525)	.	ENSP00000283943		CCDS33391.1			1	
N4BP2	0	LGGM	GRCh37	4	40138665	40138665	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	20	32	.	.	ENST00000261435.6:c.4748T>G	p.Val1583Gly	p.V1583G	ENST00000261435	NM_018177.4	1583	gTc/gGc	0	1	1	UPI00001A962C	0	NA	ENST00000261435		ENSG00000078177	29851		52	0.55		HGNC	p.V1583G		N4BP2		SNV							ENST00000261435	protein_coding	getma.org/?cm=var&var=hg19,4,40138665,T,G&fts=all		hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308		V/G		G	neutral	5164/9744		getma.org/?cm=msa&ty=f&p=N4BP2_HUMAN&rb=1557&re=1617&var=V1583G	deleterious(0.04)	D6R9J2_HUMAN			YES	N4BP2,missense_variant,p.Val1583Gly,ENST00000261435,NM_018177.4;N4BP2,missense_variant,p.Val1230Gly,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;							MODERATE	4748/5313	V1583G	N4BP2_HUMAN			Transcript		benign(0.169)	.	ENSP00000261435		CCDS3457.1			1	
SFMBT2	0	LGGM	GRCh37	10	7230674	7230674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	21	32	.	.	ENST00000361972.4:c.1720G>A	p.Ala574Thr	p.A574T	ENST00000361972	NM_001018039.1	574	Gca/Aca	0	1	1	UPI00001C1EDF	0	NA	ENST00000361972		ENSG00000198879	20256		53	1.955		HGNC	p.A574T	rs749288928	SFMBT2	6.06E-05	SNV							ENST00000397167	protein_coding	getma.org/?cm=var&var=hg19,10,7230674,C,T&fts=all		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF62,Pfam_domain:PF12140		A/T		T	medium	1811/7922	1.50E-05	getma.org/?cm=msa&ty=f&p=SMBT2_HUMAN&rb=527&re=646&var=A574T	tolerated(0.05)				YES	SFMBT2,missense_variant,p.Ala574Thr,ENST00000361972,NM_001018039.1;SFMBT2,missense_variant,p.Ala574Thr,ENST00000397167,NM_001029880.2;							MODERATE	1720/2685	A574T	SMBT2_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000355109	1.65E-05	CCDS31138.1			1	
CCDC178	0	LGGM	GRCh37	18	30847233	30847233	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	38	33	.	.	ENST00000383096.3:c.1205A>T	p.Gln402Leu	p.Q402L	ENST00000383096		402	cAa/cTa	0	1	1	UPI000022A700	0	NA	ENST00000383096		ENSG00000166960	29588		71	1.65		HGNC	p.Q402L		CCDC178		SNV							ENST00000403303	protein_coding	getma.org/?cm=var&var=hg19,18,30847233,T,A&fts=all		Coiled-coils_(Ncoils):Coil		Q/L		A	low	1388/3391		getma.org/?cm=msa&ty=f&p=CR034_HUMAN&rb=1&re=865&var=Q402L	deleterious(0.01)	J3QKU2_HUMAN			YES	CCDC178,missense_variant,p.Gln402Leu,ENST00000383096,;CCDC178,missense_variant,p.Gln402Leu,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Gln402Leu,ENST00000583930,;CCDC178,missense_variant,p.Gln402Leu,ENST00000300227,NM_198995.2;CCDC178,missense_variant,p.Gln402Leu,ENST00000406524,;CCDC178,missense_variant,p.Gln402Leu,ENST00000579947,;CCDC178,missense_variant,p.Gln402Leu,ENST00000402325,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,upstream_gene_variant,,ENST00000581524,;							MODERATE	1205/2604	Q402L	CC178_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000372576		CCDS42424.1			1	
HOXC5	0	LGGM	GRCh37	12	54428144	54428144	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	51	35	.	.	ENST00000312492.2:c.537C>T	p.Tyr179=	p.Y179=	ENST00000312492	NM_018953.2	179	taC/taT	0	1	1	UPI000012CF6F	0		ENST00000312492		ENSG00000172789	5127		86			HGNC	p.Y179Y		HOXC5		SNV							ENST00000312492	protein_coding			PROSITE_profiles:PS50071,hmmpanther:PTHR24326:SF152,hmmpanther:PTHR24326,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024		Y		T		807/1805							YES	HOXC5,synonymous_variant,p.=,ENST00000312492,NM_018953.2;RP11-834C11.12,synonymous_variant,p.=,ENST00000513209,;HOXC4,intron_variant,,ENST00000303406,NM_014620.4;HOXC6,downstream_gene_variant,,ENST00000394331,NM_153693.4;HOXC6,downstream_gene_variant,,ENST00000243108,NM_004503.3;HOXC6,downstream_gene_variant,,ENST00000509328,;MIR615,downstream_gene_variant,,ENST00000384839,;RP11-834C11.14,non_coding_transcript_exon_variant,,ENST00000512206,;HOXC4,upstream_gene_variant,,ENST00000507650,;							LOW	537/669		HXC5_HUMAN			Transcript			.	ENSP00000309336		CCDS8872.1			1	
PTAR1	0	LGGM	GRCh37	9	72347202	72347202	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	49	35	.	.	ENST00000340434.4:c.495G>A	p.Leu165=	p.L165=	ENST00000340434	NM_001099666.1	165	ttG/ttA	0	1	1	UPI00001D75C1	0		ENST00000340434		ENSG00000188647	30449		84			HGNC	p.L86L		PTAR1		SNV							ENST00000377200	protein_coding			hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF3,Gene3D:1.25.40.120,Superfamily_domains:SSF48439		L		T		499/1417							YES	PTAR1,synonymous_variant,p.=,ENST00000377200,;PTAR1,synonymous_variant,p.=,ENST00000340434,NM_001099666.1;PTAR1,non_coding_transcript_exon_variant,,ENST00000467511,;							LOW	495/1209		PTAR1_HUMAN			Transcript			.	ENSP00000344299		CCDS47978.1			1	
ADAM32	0	LGGM	GRCh37	8	39091506	39091506	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	39	36	.	.	ENST00000379907.4:c.1723C>T	p.Arg575Ter	p.R575*	ENST00000379907	NM_145004.5	575	Cga/Tga	0	1	1	UPI000013F62F	0	NA	ENST00000379907		ENSG00000197140	15479		75	0		HGNC	p.R476X	rs544708309	ADAM32		SNV							ENST00000437682	protein_coding	getma.org/?cm=var&var=hg19,8,39091506,C,T&fts=all		hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608		R/*		T	NA	1850/2601	0.000366	NA		E5RJY7_HUMAN			YES	ADAM32,stop_gained,p.Arg575Ter,ENST00000379907,NM_145004.5;ADAM32,stop_gained,p.Arg476Ter,ENST00000437682,;ADAM32,stop_gained,p.Arg469Ter,ENST00000519315,;ADAM32,intron_variant,,ENST00000520691,;							HIGH	1723/2364	R575*	ADA32_HUMAN	0.00068		Transcript			common_variant	ENSP00000369238	0.000183	CCDS47846.1			1	
CDH20	0	LGGM	GRCh37	18	59157866	59157866	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050350	H050350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	35	38	.	.	ENST00000262717.4:c.80A>G	p.Asp27Gly	p.D27G	ENST00000262717		27	gAc/gGc	0	1	1	UPI000013D30D	0	NA	ENST00000262717		ENSG00000101542	1760		73	0.55		HGNC	p.D27G		CDH20		SNV							ENST00000538374	protein_coding	getma.org/?cm=var&var=hg19,18,59157866,A,G&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027		D/G		G	neutral	478/3882		getma.org/?cm=msa&ty=f&p=CAD20_HUMAN&rb=1&re=63&var=D27G	tolerated(0.22)	Q8N9J3_HUMAN,K7ESP2_HUMAN			YES	CDH20,missense_variant,p.Asp27Gly,ENST00000262717,;CDH20,missense_variant,p.Asp27Gly,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Asp27Gly,ENST00000538374,;							MODERATE	80/2406	D27G	CAD20_HUMAN			Transcript		benign(0.024)	.	ENSP00000262717		CCDS11977.1			1	
BLTP3A	0	LGGM	GRCh37	6	34826437	34826437	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	39	38	.	.	ENST00000192788.5:c.2304C>T	p.Asp768=	p.D768=	ENST00000192788	NM_017754.3	768	gaC/gaT	0	1	1	UPI00001B654C	0		ENST00000192788		ENSG00000065060	21216		77			HGNC	p.D768D		UHRF1BP1		SNV							ENST00000452449	protein_coding			hmmpanther:PTHR22774:SF14,hmmpanther:PTHR22774		D		T		2475/9570							YES	UHRF1BP1,synonymous_variant,p.=,ENST00000192788,NM_017754.3;UHRF1BP1,synonymous_variant,p.=,ENST00000452449,;							LOW	2304/4323		URFB1_HUMAN			Transcript			.	ENSP00000192788		CCDS43455.1			1	
KBTBD7	0	LGGM	GRCh37	13	41766361	41766361	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	35	39	.	.	ENST00000379483.3:c.2033A>T	p.Gln678Leu	p.Q678L	ENST00000379483	NM_032138.4	678	cAg/cTg	0	1	1	UPI0000071F8F	0	NA	ENST00000379483		ENSG00000120696	25266		74	0		HGNC	p.Q678L		KBTBD7		SNV							ENST00000379483	protein_coding	getma.org/?cm=var&var=hg19,13,41766361,T,A&fts=all				Q/L		A	neutral	2342/4734		getma.org/?cm=msa&ty=f&p=KBTB7_HUMAN&rb=642&re=684&var=Q678L	tolerated_low_confidence(0.38)	B4DS80_HUMAN			YES	KBTBD7,missense_variant,p.Gln678Leu,ENST00000379483,NM_032138.4;							MODERATE	2033/2055	Q678L	KBTB7_HUMAN			Transcript		benign(0)	.	ENSP00000368797		CCDS9377.1			1	
ATAD2B	0	LGGM	GRCh37	2	23980883	23980883	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	43	50	.	.	ENST00000238789.5:c.3483A>C	p.Glu1161Asp	p.E1161D	ENST00000238789	NM_001242338.1	1161	gaA/gaC	0	1	1	UPI00006C0425	0	NA	ENST00000238789		ENSG00000119778	29230		93	0.46		HGNC	p.E1161D		ATAD2B		SNV							ENST00000238789	protein_coding	getma.org/?cm=var&var=hg19,2,23980883,T,G&fts=all		hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069		E/D		G	neutral	3827/8103		getma.org/?cm=msa&ty=f&p=ATD2B_HUMAN&rb=1116&re=1164&var=E1161D	tolerated(0.33)	B3KWS5_HUMAN			YES	ATAD2B,missense_variant,p.Glu1161Asp,ENST00000238789,NM_001242338.1,NM_017552.2;ATAD2B,missense_variant,p.Glu437Asp,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;							MODERATE	3483/4377	E1161D	ATD2B_HUMAN			Transcript		benign(0.104)	.	ENSP00000238789		CCDS46227.1			1	
SV2C	0	LGGM	GRCh37	5	75490838	75490838	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	62	51	.	.	ENST00000502798.2:c.675G>A	p.Met225Ile	p.M225I	ENST00000502798	NM_014979.1	225	atG/atA	0	1	1	UPI000011DDBB	0	NA	ENST00000502798		ENSG00000122012	30670		113	0.645		HGNC	p.M225I	rs373154009,COSM1070179	SV2C		SNV	A:0.0005			0.000102		0,1	ENST00000502798	protein_coding	getma.org/?cm=var&var=hg19,5,75490838,G,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24065,hmmpanther:PTHR24065:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR01299,Transmembrane_helices:TMhelix		M/I	A:0	A	neutral	1117/7158		getma.org/?cm=msa&ty=f&p=SV2C_HUMAN&rb=120&re=427&var=M225I	deleterious(0.01)				YES	SV2C,missense_variant,p.Met225Ile,ENST00000502798,NM_014979.1;SV2C,missense_variant,p.Met225Ile,ENST00000322285,;					0,1		MODERATE	675/2184	M225I	SV2C_HUMAN			Transcript		benign(0.338)	.	ENSP00000423541	8.27E-06	CCDS43331.1			1	
WDFY4	0	LGGM	GRCh37	10	50004360	50004360	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	70	54	.	.	ENST00000325239.5:c.4275G>C	p.Leu1425=	p.L1425=	ENST00000325239	NM_020945.1	1425	ctG/ctC	0	1	1	UPI000176ADB8	0		ENST00000325239		ENSG00000128815	29323		124			HGNC	p.L1425L		WDFY4		SNV							ENST00000325239	protein_coding			hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		L		C		4302/9962				Q6PIM1_HUMAN			YES	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000413659,;							LOW	4275/9555		WDFY4_HUMAN			Transcript			.	ENSP00000320563		CCDS44385.1			1	
CEP350	0	LGGM	GRCh37	1	180063207	180063207	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	217	55	.	.	ENST00000367607.3:c.7967C>G	p.Ser2656Ter	p.S2656*	ENST00000367607	NM_014810.4	2656	tCa/tGa	0	1	1	UPI000013CFC5	0	NA	ENST00000367607		ENSG00000135837	24238		272	0		HGNC	p.S2656X		CEP350		SNV							ENST00000367607	protein_coding	getma.org/?cm=var&var=hg19,1,180063207,C,G&fts=all		hmmpanther:PTHR13958		S/*		G	NA	8385/13491		NA		Q5T2X4_HUMAN			YES	CEP350,stop_gained,p.Ser2656Ter,ENST00000367607,NM_014810.4;CEP350,stop_gained,p.Ser831Ter,ENST00000429851,;CEP350,stop_gained,p.Ser120Ter,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;							HIGH	7967/9354	S2656*	CE350_HUMAN			Transcript			.	ENSP00000356579		CCDS1336.1			1	
HPX	0	LGGM	GRCh37	11	6452992	6452992	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050350	H050350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	61	60	.	.	ENST00000265983.3:c.1008C>G	p.Thr336=	p.T336=	ENST00000265983	NM_000613.2	336	acC/acG	0	1	1	UPI000012C5AF	0		ENST00000265983		ENSG00000110169	5171		121			HGNC	p.T336T		HPX		SNV							ENST00000265983	protein_coding			Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,SMART_domains:SM00120,Pfam_domain:PF00045,Gene3D:2.110.10.10,PROSITE_profiles:PS51642		T		C		1109/1652							YES	HPX,synonymous_variant,p.=,ENST00000265983,NM_000613.2;HPX,non_coding_transcript_exon_variant,,ENST00000529037,;HPX,downstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000533561,;HPX,non_coding_transcript_exon_variant,,ENST00000527556,;							LOW	1008/1389		HEMO_HUMAN			Transcript			.	ENSP00000265983		CCDS7763.1			1	
OR6C74	0	LGGM	GRCh37	12	55641409	55641409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	87	64	.	.	ENST00000343870.4:c.338T>C	p.Leu113Pro	p.L113P	ENST00000343870	NM_001005490.1	113	cTg/cCg	0	1	1	UPI000016150B	0	getma.org/pdb.php?prot=O6C74_HUMAN&from=1&to=136&var=L113P	ENST00000343870		ENSG00000197706	31303		151	4.08		HGNC	p.L113P		OR6C74		SNV							ENST00000343870	protein_coding	getma.org/?cm=var&var=hg19,12,55641409,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/P		C	high	428/1105		getma.org/?cm=msa&ty=f&p=O6C74_HUMAN&rb=1&re=136&var=L113P	deleterious_low_confidence(0)				YES	OR6C74,missense_variant,p.Leu113Pro,ENST00000343870,NM_001005490.1;							MODERATE	338/939	L113P	O6C74_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342836		CCDS31816.1			1	
TBC1D9	0	LGGM	GRCh37	4	141600318	141600318	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050350	H050350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	82	71	.	.	ENST00000442267.2:c.629A>T	p.Glu210Val	p.E210V	ENST00000442267	NM_015130.2	210	gAg/gTg	0	1	1	UPI00001C1E18	0	NA	ENST00000442267		ENSG00000109436	21710		153	2.545		HGNC	p.E210V		TBC1D9		SNV							ENST00000442267	protein_coding	getma.org/?cm=var&var=hg19,4,141600318,T,A&fts=all		hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957,Pfam_domain:PF02893,SMART_domains:SM00568		E/V		A	medium	704/5306		getma.org/?cm=msa&ty=f&p=TBCD9_HUMAN&rb=146&re=213&var=E210V	deleterious(0)				YES	TBC1D9,missense_variant,p.Glu210Val,ENST00000442267,NM_015130.2;TBC1D9,upstream_gene_variant,,ENST00000514787,;							MODERATE	629/3801	E210V	TBCD9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000411197		CCDS47136.1			1	
STOML2	0	LGGM	GRCh37	9	35100949	35100949	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050350	H050350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050350N.bam, H050350T.bam	Illumina HiSeq	64	75	.	.	ENST00000356493.5:c.784G>A	p.Ala262Thr	p.A262T	ENST00000356493	NM_013442.1	262	Gct/Act	0	1	1	UPI000006E47E	0	NA	ENST00000356493		ENSG00000165283	14559		139	2.375		HGNC	p.A217T		STOML2		SNV							ENST00000452248	protein_coding	getma.org/?cm=var&var=hg19,9,35100949,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10264:SF27,hmmpanther:PTHR10264		A/T		T	medium	847/1278		getma.org/?cm=msa&ty=f&p=STML2_HUMAN&rb=258&re=356&var=A262T	deleterious(0)				YES	STOML2,missense_variant,p.Ala262Thr,ENST00000356493,NM_013442.1,NM_001287032.1;STOML2,missense_variant,p.Ala217Thr,ENST00000452248,NM_001287031.1;FAM214B,downstream_gene_variant,,ENST00000378561,;PIGO,upstream_gene_variant,,ENST00000378617,NM_032634.3;PIGO,upstream_gene_variant,,ENST00000341666,;FAM214B,downstream_gene_variant,,ENST00000603301,;FAM214B,downstream_gene_variant,,ENST00000378557,;FAM214B,downstream_gene_variant,,ENST00000322813,NM_025182.2;FAM214B,downstream_gene_variant,,ENST00000605244,;FAM214B,downstream_gene_variant,,ENST00000488109,;PIGO,upstream_gene_variant,,ENST00000298004,NM_001201484.1;FAM214B,downstream_gene_variant,,ENST00000378566,;PIGO,upstream_gene_variant,,ENST00000361778,NM_152850.3;FAM214B,downstream_gene_variant,,ENST00000378554,;RP11-182N22.8,downstream_gene_variant,,ENST00000431804,;PIGO,upstream_gene_variant,,ENST00000492770,;PIGO,upstream_gene_variant,,ENST00000472208,;STOML2,downstream_gene_variant,,ENST00000487490,;STOML2,missense_variant,p.Ala73Thr,ENST00000488050,;PIGO,upstream_gene_variant,,ENST00000474436,;PIGO,upstream_gene_variant,,ENST00000465745,;							MODERATE	784/1071	A262T	STML2_HUMAN			Transcript		benign(0.437)	.	ENSP00000348886		CCDS6577.1			1	
DGCR2	0	LGGM	GRCh37	22	19026381	19026381	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	13	2	.	.	ENST00000263196.7:c.1650G>A	p.Val550=	p.V550=	ENST00000263196	NM_001184781.1	550	gtG/gtA	0	1	1	UPI0000001613	0		ENST00000263196		ENSG00000070413	2845		15			HGNC	p.V550V	rs760218212	DGCR2		SNV							ENST00000263196	protein_coding			hmmpanther:PTHR15256		V		T		1898/4480	6.16E-05			B7Z8B7_HUMAN,B7Z3C4_HUMAN			YES	DGCR2,synonymous_variant,p.=,ENST00000263196,NM_001184781.1,NM_005137.2;DGCR2,synonymous_variant,p.=,ENST00000537045,NM_001173533.1,NM_001173534.1;DGCR2,3_prime_UTR_variant,,ENST00000545799,;DGCR2,synonymous_variant,p.=,ENST00000389262,;DGCR2,non_coding_transcript_exon_variant,,ENST00000467659,;CA15P1,upstream_gene_variant,,ENST00000481698,;							LOW	1650/1653		IDD_HUMAN			Transcript			.	ENSP00000263196	3.29E-05	CCDS33598.1			1	
SUSD2	0	LGGM	GRCh37	22	24581803	24581803	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	0	2	.	.	ENST00000358321.3:c.1245C>A	p.Ser415Arg	p.S415R	ENST00000358321	NM_019601.3	415	agC/agA	0	1	1	UPI000006CC92	0	NA	ENST00000358321		ENSG00000099994	30667		2	2.2		HGNC	p.S415R		SUSD2		SNV							ENST00000358321	protein_coding	getma.org/?cm=var&var=hg19,22,24581803,C,A&fts=all		SMART_domains:SM00723,Pfam_domain:PF03782,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF43,PROSITE_profiles:PS50856		S/R		A	medium	1506/3404		getma.org/?cm=msa&ty=f&p=SUSD2_HUMAN&rb=288&re=433&var=S415R	deleterious(0)				YES	SUSD2,missense_variant,p.Ser415Arg,ENST00000358321,NM_019601.3;SUSD2,non_coding_transcript_exon_variant,,ENST00000463101,;							MODERATE	1245/2469	S415R	SUSD2_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000351075		CCDS13824.1			1	
PTK7	0	LGGM	GRCh37	6	43097566	43097566	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	27	2	.	.	ENST00000481273.1:c.493C>A	p.Arg165=	p.R165=	ENST00000481273	NM_001270398.1	165	Cgg/Agg	0	1		UPI0000001BDB	0		ENST00000230419		ENSG00000112655	9618		29			HGNC	p.R157R	rs374956441	PTK7		SNV	T:0.0005						ENST00000471863	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF14,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R	T:0	A		690/4272	1.50E-05			F8WDG7_HUMAN				PTK7,splice_region_variant,p.=,ENST00000230419,NM_002821.4;PTK7,splice_region_variant,p.=,ENST00000345201,NM_152880.3;PTK7,splice_region_variant,p.=,ENST00000352931,NM_152882.3;PTK7,splice_region_variant,p.=,ENST00000349241,NM_152881.3;PTK7,splice_region_variant,p.=,ENST00000481273,NM_001270398.1;PTK7,splice_region_variant,p.=,ENST00000471863,;PTK7,upstream_gene_variant,,ENST00000489707,;PTK7,downstream_gene_variant,,ENST00000476760,;PTK7,upstream_gene_variant,,ENST00000481946,;PTK7,splice_region_variant,,ENST00000487673,;PTK7,splice_region_variant,p.=,ENST00000470019,;PTK7,splice_region_variant,p.=,ENST00000230418,;PTK7,upstream_gene_variant,,ENST00000490710,;							LOW	469/3213		PTK7_HUMAN			Transcript			.	ENSP00000230419	8.24E-06	CCDS4884.1			1	
GRHPR	0	LGGM	GRCh37	9	37432014	37432014	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	24	2	.	.	ENST00000318158.6:c.744C>A	p.Val248=	p.V248=	ENST00000318158	NM_012203.1	248	gtC/gtA	0	1	1	UPI0000073E2F	0		ENST00000318158		ENSG00000137106	4570		26			HGNC	p.V248V		GRHPR		SNV			1				ENST00000318158	protein_coding			Gene3D:3.40.50.720,Pfam_domain:PF00389,Pfam_domain:PF02826,PROSITE_patterns:PS00671,hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF106,Superfamily_domains:SSF51735		V		A		829/1280							YES	GRHPR,synonymous_variant,p.=,ENST00000607784,;GRHPR,synonymous_variant,p.=,ENST00000318158,NM_012203.1;GRHPR,non_coding_transcript_exon_variant,,ENST00000460882,;GRHPR,non_coding_transcript_exon_variant,,ENST00000491488,;GRHPR,non_coding_transcript_exon_variant,,ENST00000482603,;GRHPR,downstream_gene_variant,,ENST00000493368,;GRHPR,upstream_gene_variant,,ENST00000512404,;GRHPR,non_coding_transcript_exon_variant,,ENST00000497693,;GRHPR,non_coding_transcript_exon_variant,,ENST00000480596,;GRHPR,intron_variant,,ENST00000494290,;GRHPR,downstream_gene_variant,,ENST00000377824,;CHCHD4P3,upstream_gene_variant,,ENST00000455954,;							LOW	744/987		GRHPR_HUMAN			Transcript			.	ENSP00000313432		CCDS6609.1			1	
MS4A3	0	LGGM	GRCh37	11	59834577	59834577	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	12	2	.	.	ENST00000278865.3:c.505A>C	p.Ile169Leu	p.I169L	ENST00000278865	NM_006138.4	169	Ata/Cta	0	1	1	UPI000006E45E	0	NA	ENST00000278865		ENSG00000149516	7317		14	0.445		HGNC	p.I169L		MS4A3		SNV							ENST00000278865	protein_coding	getma.org/?cm=var&var=hg19,11,59834577,A,C&fts=all		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46		I/L		C	neutral	578/1613		getma.org/?cm=msa&ty=f&p=MS4A3_HUMAN&rb=50&re=196&var=I169L	tolerated(0.39)				YES	MS4A3,missense_variant,p.Ile169Leu,ENST00000278865,NM_006138.4;MS4A3,missense_variant,p.Ile123Leu,ENST00000358152,NM_001031809.1;MS4A3,missense_variant,p.Ile46Leu,ENST00000395032,NM_001031666.1;MS4A3,missense_variant,p.Ile123Leu,ENST00000534744,;MS4A3,3_prime_UTR_variant,,ENST00000525686,;MS4A3,upstream_gene_variant,,ENST00000528952,;MS4A3,downstream_gene_variant,,ENST00000528298,;							MODERATE	505/645	I169L	MS4A3_HUMAN			Transcript		benign(0.003)	.	ENSP00000278865		CCDS31567.1			1	
MS4A3	0	LGGM	GRCh37	11	59834579	59834579	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	12	2	.	.	ENST00000278865.3:c.507A>T	p.Ile169=	p.I169=	ENST00000278865	NM_006138.4	169	atA/atT	0	1	1	UPI000006E45E	0		ENST00000278865		ENSG00000149516	7317		14			HGNC	p.I169I		MS4A3		SNV							ENST00000278865	protein_coding			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF46		I		T		580/1613							YES	MS4A3,synonymous_variant,p.=,ENST00000278865,NM_006138.4;MS4A3,synonymous_variant,p.=,ENST00000358152,NM_001031809.1;MS4A3,synonymous_variant,p.=,ENST00000395032,NM_001031666.1;MS4A3,synonymous_variant,p.=,ENST00000534744,;MS4A3,3_prime_UTR_variant,,ENST00000525686,;MS4A3,upstream_gene_variant,,ENST00000528952,;MS4A3,downstream_gene_variant,,ENST00000528298,;							LOW	507/645		MS4A3_HUMAN			Transcript			.	ENSP00000278865		CCDS31567.1			1	
GLIS3	0	LGGM	GRCh37	9	4118709	4118709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	10	2	.	.	ENST00000381971.3:c.769G>T	p.Gly257Trp	p.G257W	ENST00000381971	NM_001042413.1	257	Ggg/Tgg	0	1		UPI00003675FE	0	NA	ENST00000324333		ENSG00000107249	28510		12	2.015		HGNC	p.G257W		GLIS3		SNV			1				ENST00000381971	protein_coding	getma.org/?cm=var&var=hg19,9,4118709,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818		G/W		A	medium	498/6667		getma.org/?cm=msa&ty=f&p=GLIS3_HUMAN&rb=43&re=297&var=G102W	deleterious(0)	Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,missense_variant,p.Gly102Trp,ENST00000324333,NM_152629.3;GLIS3,missense_variant,p.Gly257Trp,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,non_coding_transcript_exon_variant,,ENST00000490709,;GLIS3,downstream_gene_variant,,ENST00000473846,;GLIS3,upstream_gene_variant,,ENST00000467497,;GLIS3,downstream_gene_variant,,ENST00000491889,;							MODERATE	304/2328	G102W	GLIS3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000325494		CCDS6451.1			1	
KLK12	0	LGGM	GRCh37	19	51537236	51537236	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	7	2	.	.	ENST00000250351.4:c.197G>T	p.Ser66Ile	p.S66I	ENST00000250351		66	aGc/aTc	0	1		UPI000004CA0B	0	getma.org/pdb.php?prot=KLK12_HUMAN&from=22&to=241&var=S66I	ENST00000319590		ENSG00000186474	6360		9	1.205		HGNC	p.S66I		KLK12		SNV							ENST00000250351	protein_coding	getma.org/?cm=var&var=hg19,19,51537236,C,A&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF21,SMART_domains:SM00020,Superfamily_domains:SSF50494		S/I		A	low	314/1074		getma.org/?cm=msa&ty=f&p=KLK12_HUMAN&rb=22&re=241&var=S66I	tolerated(0.15)					KLK12,missense_variant,p.Asp43Tyr,ENST00000250352,;KLK12,missense_variant,p.Ser66Ile,ENST00000525263,;KLK12,missense_variant,p.Ser66Ile,ENST00000319590,NM_145894.1,NM_019598.2;KLK12,missense_variant,p.Ser66Ile,ENST00000250351,;KLK12,missense_variant,p.Arg66Ile,ENST00000529888,NM_145895.1;CTC-518B2.9,non_coding_transcript_exon_variant,,ENST00000594910,;KLK12,missense_variant,p.Ser66Ile,ENST00000531374,;KLK12,splice_region_variant,,ENST00000526824,;KLK12,splice_region_variant,,ENST00000530943,;							MODERATE	197/747	S66I	KLK12_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000324181		CCDS12821.1			1	
PITPNM2	0	LGGM	GRCh37	12	123476416	123476416	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	5	2	.	.	ENST00000320201.4:c.2404+630G>T		*802*	ENST00000320201	NM_020845.2			0	1	1	UPI0000070D27	0		ENST00000320201		ENSG00000090975	21044		7			HGNC	p.V812F		PITPNM2		SNV							ENST00000280562	protein_coding							A		-/6736				Q9UF51_HUMAN,F5H664_HUMAN			YES	PITPNM2,missense_variant,p.Val812Phe,ENST00000280562,;PITPNM2,intron_variant,,ENST00000320201,NM_020845.2;PITPNM2,intron_variant,,ENST00000542749,;PITPNM2,intron_variant,,ENST00000392428,;							MODIFIER	-/4050		PITM2_HUMAN			Transcript			.	ENSP00000322218		CCDS9242.1			1	
CRYBA2	0	LGGM	GRCh37	2	219857793	219857793	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	16	2	.	.	ENST00000295728.2:c.106G>T	p.Val36Phe	p.V36F	ENST00000295728	NM_057093.1	36	Gtc/Ttc	0	1	1	UPI0000000C76	0	getma.org/pdb.php?prot=CRBA2_HUMAN&from=13&to=98&var=V36F	ENST00000295728		ENSG00000163499	2395		18	0.6		HGNC	p.V36F		CRYBA2		SNV			1				ENST00000295728	protein_coding	getma.org/?cm=var&var=hg19,2,219857793,C,A&fts=all		Gene3D:2.60.20.10,Pfam_domain:PF00030,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF7,SMART_domains:SM00247,Superfamily_domains:SSF49695		V/F		A	neutral	343/893		getma.org/?cm=msa&ty=f&p=CRBA2_HUMAN&rb=13&re=98&var=V36F	deleterious(0.05)	C9JDH2_HUMAN			YES	CRYBA2,missense_variant,p.Val36Phe,ENST00000295728,NM_057093.1;CRYBA2,missense_variant,p.Val36Phe,ENST00000392096,NM_057094.1;CRYBA2,missense_variant,p.Val36Phe,ENST00000453769,;CRYBA2,upstream_gene_variant,,ENST00000487181,;CRYBA2,non_coding_transcript_exon_variant,,ENST00000490678,;CRYBA2,upstream_gene_variant,,ENST00000496566,;							MODERATE	106/594	V36F	CRBA2_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000295728		CCDS2429.1			1	
ZNF711	0	LGGM	GRCh37	X	84526201	84526201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	13	3	.	.	ENST00000373165.3:c.1653C>A	p.His551Gln	p.H551Q	ENST00000373165	NM_021998.4	551	caC/caA	0	1		UPI0000212114	0	getma.org/pdb.php?prot=ZN711_HUMAN&from=547&to=573&var=H551Q	ENST00000276123		ENSG00000147180	13128		16	3.89		HGNC	p.H597Q		ZNF711		SNV			1				ENST00000360700	protein_coding	getma.org/?cm=var&var=hg19,X,84526201,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/Q		A	high	2161/2887		getma.org/?cm=msa&ty=f&p=ZN711_HUMAN&rb=527&re=593&var=H551Q	deleterious(0)	B4DS73_HUMAN				ZNF711,missense_variant,p.His597Gln,ENST00000360700,;ZNF711,missense_variant,p.His559Gln,ENST00000395402,;ZNF711,missense_variant,p.His551Gln,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.His551Gln,ENST00000276123,;ZNF711,missense_variant,p.His393Gln,ENST00000542798,;							MODERATE	1653/2286	H551Q	ZN711_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276123		CCDS35344.1			1	
OSCP1	0	LGGM	GRCh37	1	36915894	36915894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	31	3	.	.	ENST00000235532.5:c.77G>T	p.Arg26Leu	p.R26L	ENST00000235532	NM_145047.4	26	cGg/cTg	0	1		UPI00003505F8	0	NA	ENST00000356637		ENSG00000116885	29971		34	2.42		HGNC	p.R26L		OSCP1		SNV							ENST00000235532	protein_coding	getma.org/?cm=var&var=hg19,1,36915894,C,A&fts=all		Pfam_domain:PF10188,hmmpanther:PTHR21439		R/L		A	medium	141/1463		getma.org/?cm=msa&ty=f&p=OSCP1_HUMAN&rb=17&re=200&var=R26L	deleterious(0)	C9JF58_HUMAN				OSCP1,missense_variant,p.Arg26Leu,ENST00000356637,;OSCP1,missense_variant,p.Arg26Leu,ENST00000235532,NM_145047.4;OSCP1,missense_variant,p.Arg26Leu,ENST00000315643,;OSCP1,missense_variant,p.Arg26Leu,ENST00000354267,NM_206837.2;OSCP1,upstream_gene_variant,,ENST00000445843,;OSCP1,upstream_gene_variant,,ENST00000524789,;							MODERATE	77/1170	R26L	OSCP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349052					1	
ARL3	0	LGGM	GRCh37	10	104445580	104445580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	3	.	.	ENST00000260746.5:c.494G>T	p.Gly165Val	p.G165V	ENST00000260746	NM_004311.3	165	gGc/gTc	0	1	1	UPI0000125EE4	0	getma.org/pdb.php?prot=ARL3_HUMAN&from=3&to=177&var=G165V	ENST00000260746		ENSG00000138175	694		43	4.185		HGNC	p.G165V		ARL3		SNV							ENST00000260746	protein_coding	getma.org/?cm=var&var=hg19,10,104445580,C,A&fts=all		PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF124,hmmpanther:PTHR11711,Gene3D:3.40.50.300,Pfam_domain:PF00025,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540		G/V		A	high	626/3844		getma.org/?cm=msa&ty=f&p=ARL3_HUMAN&rb=3&re=177&var=G165V	deleterious(0)				YES	ARL3,missense_variant,p.Gly165Val,ENST00000260746,NM_004311.3;							MODERATE	494/549	G165V	ARL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260746		CCDS7538.1			1	
RBM19	0	LGGM	GRCh37	12	114377796	114377796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	43	3	.	.	ENST00000545145.2:c.1907G>A	p.Arg636His	p.R636H	ENST00000545145	NM_001146699.1	636	cGc/cAc	0	1		UPI000013D1EC	0	getma.org/pdb.php?prot=RBM19_HUMAN&from=589&to=650&var=R636H	ENST00000261741		ENSG00000122965	29098		46	2		HGNC	p.R636H	rs201979395,COSM4039024	RBM19		SNV	T:0					0,1	ENST00000392561	protein_coding	getma.org/?cm=var&var=hg19,12,114377796,C,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF312,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/H	T:0.0001	T	medium	2051/4194		getma.org/?cm=msa&ty=f&p=RBM19_HUMAN&rb=589&re=650&var=R636H	deleterious(0)					RBM19,missense_variant,p.Arg636His,ENST00000545145,NM_001146699.1;RBM19,missense_variant,p.Arg636His,ENST00000261741,NM_016196.3;RBM19,missense_variant,p.Arg636His,ENST00000392561,NM_001146698.1;RP11-780K2.1,downstream_gene_variant,,ENST00000550206,;					0,1		MODERATE	1907/2883	R636H	RBM19_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000261741		CCDS9172.1			1	
AHCYL2	0	LGGM	GRCh37	7	129029555	129029555	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	39	3	.	.	ENST00000325006.3:c.700C>A	p.His234Asn	p.H234N	ENST00000325006	NM_001130720.2	234	Cac/Aac	0	1	1	UPI00001354E4	0	getma.org/pdb.php?prot=SAHH3_HUMAN&from=184&to=610&var=H234N	ENST00000325006		ENSG00000158467	22204		42	4.395		HGNC	p.H234N		AHCYL2		SNV							ENST00000325006	protein_coding	getma.org/?cm=var&var=hg19,7,129029555,C,A&fts=all		hmmpanther:PTHR23420:SF2,hmmpanther:PTHR23420,TIGRFAM_domain:TIGR00936,Gene3D:3.40.50.1480,Pfam_domain:PF05221,SMART_domains:SM00996,Superfamily_domains:SSF52283		H/N		A	high	754/5056		getma.org/?cm=msa&ty=f&p=SAHH3_HUMAN&rb=184&re=610&var=H234N	deleterious(0)				YES	AHCYL2,missense_variant,p.His234Asn,ENST00000325006,NM_001130720.2,NM_015328.3;AHCYL2,missense_variant,p.His132Asn,ENST00000446212,NM_001130723.2;AHCYL2,missense_variant,p.His233Asn,ENST00000446544,;AHCYL2,missense_variant,p.His153Asn,ENST00000531335,;AHCYL2,missense_variant,p.His131Asn,ENST00000474594,;AHCYL2,missense_variant,p.His131Asn,ENST00000490911,NM_001130722.2;AHCYL2,missense_variant,p.His141Asn,ENST00000466924,;AHCYL2,missense_variant,p.His132Asn,ENST00000466993,;AHCYL2,downstream_gene_variant,,ENST00000460109,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000472554,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000461161,;AHCYL2,non_coding_transcript_exon_variant,,ENST00000491079,;							MODERATE	700/1836	H234N	SAHH3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000315931		CCDS5812.1			1	
ARMC5	0	LGGM	GRCh37	16	31473284	31473284	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	41	3	.	.	ENST00000268314.4:c.517C>A	p.Arg173=	p.R173=	ENST00000268314	NM_001105247.1	173	Cga/Aga	0	1	1	UPI0000F6E6C0	0		ENST00000268314		ENSG00000140691	25781		44			HGNC	p.R268R		ARMC5		SNV			1				ENST00000408912	protein_coding			Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR23312		R		A		1046/3612							YES	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.=,ENST00000412665,;ARMC5,synonymous_variant,p.=,ENST00000564900,;RP11-452L6.5,upstream_gene_variant,,ENST00000564629,;ARMC5,3_prime_UTR_variant,,ENST00000564514,;ARMC5,upstream_gene_variant,,ENST00000570119,;							LOW	517/2808		ARMC5_HUMAN			Transcript			.	ENSP00000268314		CCDS45472.1			1	
NGDN	0	LGGM	GRCh37	14	23946536	23946536	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	3	.	.	ENST00000408901.3:c.841T>G	p.Leu281Val	p.L281V	ENST00000408901	NM_015514.1	281	Ttg/Gtg	0	1	1	UPI000006F7A0	0	NA	ENST00000408901		ENSG00000129460	20271		43	2.25		HGNC	p.L281V		NGDN		SNV							ENST00000408901	protein_coding	getma.org/?cm=var&var=hg19,14,23946536,T,G&fts=all		hmmpanther:PTHR13237		L/V		G	medium	869/1143		getma.org/?cm=msa&ty=f&p=NGDN_HUMAN&rb=99&re=298&var=L281V	deleterious(0.03)	G3V601_HUMAN,G3V4G1_HUMAN			YES	NGDN,missense_variant,p.Leu281Val,ENST00000397154,;NGDN,missense_variant,p.Leu281Val,ENST00000408901,NM_015514.1,NM_001042635.1;NGDN,missense_variant,p.Leu229Val,ENST00000556483,;NGDN,missense_variant,p.Leu39Val,ENST00000556699,;NGDN,missense_variant,p.Leu37Val,ENST00000556580,;NGDN,downstream_gene_variant,,ENST00000555128,;NGDN,non_coding_transcript_exon_variant,,ENST00000553439,;NGDN,non_coding_transcript_exon_variant,,ENST00000556022,;NGDN,non_coding_transcript_exon_variant,,ENST00000556103,;NGDN,downstream_gene_variant,,ENST00000553336,;							MODERATE	841/948	L281V	NGDN_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000386134		CCDS41926.1			1	
CATSPER4	0	LGGM	GRCh37	1	26520317	26520317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	36	3	.	.	ENST00000456354.2:c.397C>A	p.Leu133Met	p.L133M	ENST00000456354	NM_198137.1	133	Ctg/Atg	0	1	1	UPI00001D9648	0	getma.org/pdb.php?prot=CTSR4_HUMAN&from=127&to=306&var=L133M	ENST00000456354		ENSG00000188782	23220		39	1.88		HGNC	p.L133M		CATSPER4		SNV							ENST00000338855	protein_coding	getma.org/?cm=var&var=hg19,1,26520317,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF199,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324		L/M		A	low	464/1912		getma.org/?cm=msa&ty=f&p=CTSR4_HUMAN&rb=127&re=306&var=L133M	tolerated(0.07)				YES	CATSPER4,missense_variant,p.Leu133Met,ENST00000456354,NM_198137.1;CATSPER4,missense_variant,p.Leu133Met,ENST00000338855,;CNKSR1,downstream_gene_variant,,ENST00000531191,;CNKSR1,downstream_gene_variant,,ENST00000361530,;CNKSR1,downstream_gene_variant,,ENST00000374253,NM_006314.2;CATSPER4,missense_variant,p.Leu133Met,ENST00000518899,;CNKSR1,downstream_gene_variant,,ENST00000482227,;CNKSR1,downstream_gene_variant,,ENST00000484874,;							MODERATE	397/1419	L133M	CTSR4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000390423		CCDS30645.1			1	
LGALS3BP	0	LGGM	GRCh37	17	76968566	76968566	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	3	.	.	ENST00000262776.3:c.850G>T	p.Ala284Ser	p.A284S	ENST00000262776	NM_005567.3	284	Gcc/Tcc	0	1	1	UPI000006E64A	0	NA	ENST00000262776		ENSG00000108679	6564		43	1.735		HGNC	p.A284S		LGALS3BP		SNV							ENST00000262776	protein_coding	getma.org/?cm=var&var=hg19,17,76968566,C,A&fts=all		Pfam_domain:PF07707,SMART_domains:SM00875		A/S		A	low	1159/2405		getma.org/?cm=msa&ty=f&p=LG3BP_HUMAN&rb=260&re=360&var=A284S	tolerated(0.06)	K7ESM3_HUMAN,K7ES75_HUMAN,K7EP36_HUMAN,K7EKQ5_HUMAN,B4DVE1_HUMAN			YES	LGALS3BP,missense_variant,p.Ala284Ser,ENST00000262776,NM_005567.3;LGALS3BP,missense_variant,p.Trp199Cys,ENST00000591778,;LGALS3BP,downstream_gene_variant,,ENST00000585407,;LGALS3BP,downstream_gene_variant,,ENST00000589775,;LGALS3BP,downstream_gene_variant,,ENST00000589527,;LGALS3BP,downstream_gene_variant,,ENST00000589906,;LGALS3BP,downstream_gene_variant,,ENST00000591274,;LGALS3BP,3_prime_UTR_variant,,ENST00000587251,;LGALS3BP,3_prime_UTR_variant,,ENST00000587311,;LGALS3BP,3_prime_UTR_variant,,ENST00000586720,;LGALS3BP,3_prime_UTR_variant,,ENST00000588198,;LGALS3BP,non_coding_transcript_exon_variant,,ENST00000588508,;LGALS3BP,downstream_gene_variant,,ENST00000588587,;LGALS3BP,downstream_gene_variant,,ENST00000587310,;LGALS3BP,downstream_gene_variant,,ENST00000588899,;LGALS3BP,downstream_gene_variant,,ENST00000588990,;LGALS3BP,downstream_gene_variant,,ENST00000588205,;LGALS3BP,downstream_gene_variant,,ENST00000592255,;LGALS3BP,downstream_gene_variant,,ENST00000586300,;							MODERATE	850/1758	A284S	LG3BP_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000262776		CCDS11759.1			1	
CASP8	0	LGGM	GRCh37	2	202131513	202131513	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	8	3	.	.	ENST00000358485.4:c.481A>T	p.Arg161Trp	p.R161W	ENST00000358485	NM_001080125.1	161	Agg/Tgg	0	1		UPI000003AEFE	0	NA	ENST00000432109		ENSG00000064012	1509		11	2.97		HGNC	p.R102W		CASP8		SNV			1				ENST00000264275	protein_coding	getma.org/?cm=var&var=hg19,2,202131513,A,T&fts=all		PROSITE_profiles:PS50168,hmmpanther:PTHR10454:SF141,hmmpanther:PTHR10454,Pfam_domain:PF01335,Gene3D:1.10.533.10,SMART_domains:SM00031,Superfamily_domains:SSF47986,Superfamily_domains:SSF47986		R/W		T	medium	493/1629		getma.org/?cm=msa&ty=f&p=CASP8_HUMAN&rb=101&re=183&var=R102W	deleterious(0)	E7EVN1_HUMAN,E7ETB7_HUMAN,E7EQ01_HUMAN				CASP8,missense_variant,p.Arg161Trp,ENST00000358485,NM_001080125.1;CASP8,missense_variant,p.Arg102Trp,ENST00000392259,;CASP8,missense_variant,p.Arg102Trp,ENST00000392266,;CASP8,missense_variant,p.Arg102Trp,ENST00000323492,NM_033356.3;CASP8,missense_variant,p.Arg102Trp,ENST00000264274,;CASP8,missense_variant,p.Arg102Trp,ENST00000264275,NM_001228.4;CASP8,missense_variant,p.Arg102Trp,ENST00000432109,NM_033355.3;CASP8,missense_variant,p.Arg102Trp,ENST00000392263,NM_001080124.1;CASP8,missense_variant,p.Arg102Trp,ENST00000392258,NM_033358.3;CASP8,missense_variant,p.Arg102Trp,ENST00000429881,;CASP8,missense_variant,p.Arg102Trp,ENST00000447616,;CASP8,missense_variant,p.Arg102Trp,ENST00000413726,;CASP8,missense_variant,p.Arg102Trp,ENST00000440732,;CASP8,intron_variant,,ENST00000450491,;CASP8,intron_variant,,ENST00000490412,;CASP8,splice_region_variant,,ENST00000339403,;CASP8,splice_region_variant,,ENST00000471383,;CASP8,splice_region_variant,,ENST00000437283,;							MODERATE	304/1440	R102W	CASP8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412523		CCDS2342.1			1	
PTPRU	0	LGGM	GRCh37	1	29609428	29609428	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	3	.	.	ENST00000345512.3:c.2109C>G	p.Leu703=	p.L703=	ENST00000345512	NM_005704.4	703	ctC/ctG	0	1	1	UPI000013C57E	0		ENST00000345512		ENSG00000060656	9683		43			HGNC	p.L703L		PTPRU		SNV							ENST00000323874	protein_coding			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF207		L		G		2238/4470				B3KT29_HUMAN			YES	PTPRU,synonymous_variant,p.=,ENST00000323874,;PTPRU,synonymous_variant,p.=,ENST00000356870,NM_133177.3;PTPRU,synonymous_variant,p.=,ENST00000373779,NM_133178.3,NM_001195001.1;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,upstream_gene_variant,,ENST00000531385,;							LOW	2109/4341		PTPRU_HUMAN			Transcript			.	ENSP00000334941		CCDS334.1			1	
IGLJ7	0	LGGM	GRCh37	22	23263589	23263589	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	4	4	.	.	ENST00000390330.2:c.28A>G	p.Thr10Ala	p.T10A	ENST00000390330		10	Acc/Gcc	0	1	1	UPI000173A2D8	0		ENST00000390330		ENSG00000211684	5869		8			HGNC	p.T10A		IGLJ7		SNV							ENST00000390330	IG_J_gene					T/A		G		28/46							YES	IGLJ7,missense_variant,p.Thr10Ala,ENST00000390330,;IGLC7,upstream_gene_variant,,ENST00000390331,;IGLJ6,downstream_gene_variant,,ENST00000390328,;IGLC6,downstream_gene_variant,,ENST00000410078,;							MODERATE	28/46					Transcript		unknown(0)	.	ENSP00000419233					1	
CRYBB3	0	LGGM	GRCh37	22	25597392	25597392	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	23	4	.	.	ENST00000215855.2:c.29A>T	p.Gln10Leu	p.Q10L	ENST00000215855	NM_004076.4	10	cAg/cTg	0	1	1	UPI000013C6A0	0	getma.org/pdb.php?prot=CRBB3_HUMAN&from=1&to=24&var=Q10L	ENST00000215855		ENSG00000100053	2400		27	2.455		HGNC	p.Q10L		CRYBB3		SNV			1				ENST00000215855	protein_coding	getma.org/?cm=var&var=hg19,22,25597392,A,T&fts=all		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF13		Q/L		T	medium	109/867		getma.org/?cm=msa&ty=f&p=CRBB3_HUMAN&rb=1&re=54&var=Q10L	deleterious(0.01)				YES	CRYBB3,missense_variant,p.Gln10Leu,ENST00000215855,NM_004076.4;CRYBB3,missense_variant,p.Gln10Leu,ENST00000404334,;KIAA1671,downstream_gene_variant,,ENST00000358431,NM_001145206.1;KIAA1671,downstream_gene_variant,,ENST00000401395,;							MODERATE	29/636	Q10L	CRBB3_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000215855		CCDS13830.1			1	
NR2C2	0	LGGM	GRCh37	3	15055140	15055140	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	21	4	.	.	ENST00000323373.6:c.174C>A	p.Thr58=	p.T58=	ENST00000323373	NM_003298.3	58	acC/acA	0	1		UPI0000047515	0		ENST00000393102		ENSG00000177463	7972		25			HGNC	p.T58T		NR2C2		SNV							ENST00000323373	protein_coding			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF48		T		A		242/1937				C9JMI6_HUMAN				NR2C2,synonymous_variant,p.=,ENST00000425241,;NR2C2,synonymous_variant,p.=,ENST00000323373,NM_003298.3;NR2C2,synonymous_variant,p.=,ENST00000393102,;NR2C2,synonymous_variant,p.=,ENST00000406272,;NR2C2,synonymous_variant,p.=,ENST00000437120,;NR2C2,synonymous_variant,p.=,ENST00000413118,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;							LOW	117/1791		NR2C2_HUMAN			Transcript			.	ENSP00000376814					1	
KLHL11	0	LGGM	GRCh37	17	40010662	40010662	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	51	4	.	.	ENST00000319121.3:c.1457C>T	p.Ser486Leu	p.S486L	ENST00000319121	NM_018143.1	486	tCg/tTg	0	1	1	UPI00000719F8	0	NA	ENST00000319121		ENSG00000178502	19008		55	3.045		HGNC	p.S486L	rs782685633,COSM560740	KLHL11	6.06E-05	SNV						0,1	ENST00000319121	protein_coding	getma.org/?cm=var&var=hg19,17,40010662,G,A&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,SMART_domains:SM00612		S/L		A	medium	1518/2383		getma.org/?cm=msa&ty=f&p=KLH11_HUMAN&rb=442&re=488&var=S486L	tolerated(0.09)				YES	KLHL11,missense_variant,p.Ser486Leu,ENST00000319121,NM_018143.1;RP11-156E6.1,upstream_gene_variant,,ENST00000560400,;					0,1		MODERATE	1457/2127	S486L	KLH11_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000314608	8.24E-06	CCDS11411.1			1	
BAI3	0	LGGM	GRCh37	6	69646471	69646471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	4	.	.	ENST00000370598.1:c.929G>T	p.Gly310Val	p.G310V	ENST00000370598	NM_001704.2	310	gGg/gTg	0	1	1	UPI00001AE6A9	0	getma.org/pdb.php?prot=BAI3_HUMAN&from=295&to=342&var=G310V	ENST00000370598		ENSG00000135298	945		15	4.485		HGNC	p.G310V		BAI3		SNV							ENST00000370598	protein_coding	getma.org/?cm=var&var=hg19,6,69646471,G,T&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40,SMART_domains:SM00209,Superfamily_domains:SSF82895		G/V		T	high	1750/6010		getma.org/?cm=msa&ty=f&p=BAI3_HUMAN&rb=295&re=342&var=G310V	deleterious(0)	S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,missense_variant,p.Gly310Val,ENST00000370598,NM_001704.2;							MODERATE	929/4569	G310V	BAI3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359630		CCDS4968.1			1	
TEX33	0	LGGM	GRCh37	22	37387315	37387315	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	4	.	.	ENST00000405091.2:c.748C>A	p.Arg250=	p.R250=	ENST00000405091		250	Cgg/Agg	0	1		UPI000020767B	0		ENST00000381821		ENSG00000185264	28568		34			HGNC	p.R250R		TEX33		SNV							ENST00000405091	protein_coding			hmmpanther:PTHR31702,Pfam_domain:PF15400		R		T		860/978								TEX33,splice_region_variant,p.=,ENST00000405091,;TEX33,splice_region_variant,p.=,ENST00000402860,NM_178552.3,NM_001163857.1;TEX33,splice_region_variant,p.=,ENST00000381821,;TEX33,splice_region_variant,p.=,ENST00000442538,;							LOW	748/843		TEX33_HUMAN			Transcript			.	ENSP00000371243		CCDS54524.1			1	
TBC1D3F	0	LGGM	GRCh37	17	36288294	36288294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	29	5	.	.	ENST00000327454.6:c.380G>A	p.Arg127Lys	p.R127K	ENST00000327454	NM_032258.2	127	aGa/aAa	0	1	1	UPI0000140D77	0	getma.org/pdb.php?prot=TBC3F_HUMAN&from=104&to=313&var=R127K	ENST00000327454		ENSG00000185128	18257		34	-1.6		HGNC	p.R127K		TBC1D3F		SNV							ENST00000505415	protein_coding	getma.org/?cm=var&var=hg19,17,36288294,G,A&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923		R/K		A	neutral	526/2108		getma.org/?cm=msa&ty=f&p=TBC3F_HUMAN&rb=104&re=313&var=R127K	tolerated(1)	F5GZ95_HUMAN			YES	TBC1D3F,missense_variant,p.Arg47Lys,ENST00000539424,;TBC1D3F,missense_variant,p.Arg127Lys,ENST00000505415,;TBC1D3F,missense_variant,p.Arg127Lys,ENST00000327454,NM_032258.2;TBC1D3F,missense_variant,p.Arg127Lys,ENST00000378174,;TBC1D3F,3_prime_UTR_variant,,ENST00000442786,;TBC1D3F,non_coding_transcript_exon_variant,,ENST00000513862,;							MODERATE	380/1650	R127K	TBC3F_HUMAN			Transcript		benign(0.006)	.	ENSP00000329256		CCDS45657.1			1	
NUB1	0	LGGM	GRCh37	7	151073766	151073766	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	42	5	.	.	ENST00000568733.1:c.1610G>A	p.Arg537Lys	p.R537K	ENST00000568733		537	aGa/aAa	0	1	1	UPI00021CF908	0	getma.org/pdb.php?prot=NUB1_HUMAN&from=490&to=526&var=R513K	ENST00000568733		ENSG00000013374	17623		47	0.58		HGNC	p.R513K		NUB1		SNV							ENST00000355851	protein_coding	getma.org/?cm=var&var=hg19,7,151073766,G,A&fts=all		PROSITE_profiles:PS50030,hmmpanther:PTHR12948,Gene3D:1.10.8.10,SMART_domains:SM00165,Superfamily_domains:SSF46934		R/K		A	neutral	1676/3210		getma.org/?cm=msa&ty=f&p=NUB1_HUMAN&rb=490&re=526&var=R513K	tolerated(0.27)	H3BM74_HUMAN,C9JRT6_HUMAN,C9J7X7_HUMAN			YES	NUB1,missense_variant,p.Arg537Lys,ENST00000568733,;NUB1,missense_variant,p.Arg523Lys,ENST00000413040,;NUB1,missense_variant,p.Arg513Lys,ENST00000355851,NM_001243351.1;NUB1,missense_variant,p.Arg499Lys,ENST00000566856,NM_016118.4;NUB1,missense_variant,p.Arg100Lys,ENST00000460712,;WDR86,downstream_gene_variant,,ENST00000334493,NM_198285.2,NM_001284262.1;WDR86,downstream_gene_variant,,ENST00000469830,NM_001284260.1;WDR86,downstream_gene_variant,,ENST00000477459,NM_001284261.1;NUB1,downstream_gene_variant,,ENST00000480714,;WDR86,non_coding_transcript_exon_variant,,ENST00000463000,;							MODERATE	1610/1920	R513K				Transcript		benign(0.019)	.	ENSP00000454264		CCDS59089.1			1	
KLC4	0	LGGM	GRCh37	6	43030627	43030627	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	7	5	.	.	ENST00000259708.3:c.313-28C>A		*105*	ENST00000259708	NM_201523.1			0	1		UPI00001BDB9C	0		ENST00000347162		ENSG00000137171	21624		12			HGNC	p.L88M		KLC4		SNV							ENST00000467906	protein_coding							A		-/2404				C9K0D5_HUMAN,C9JZE5_HUMAN,C9JXT5_HUMAN,C9JQU1_HUMAN				KLC4,intron_variant,,ENST00000394056,;KLC4,intron_variant,,ENST00000259708,NM_201523.1;KLC4,intron_variant,,ENST00000479388,;KLC4,intron_variant,,ENST00000394058,NM_201522.1;KLC4,intron_variant,,ENST00000347162,NM_201521.1;KLC4,intron_variant,,ENST00000453940,;KLC4,intron_variant,,ENST00000458460,NM_138343.2;KLC4,intron_variant,,ENST00000470728,;KLC4,intron_variant,,ENST00000481888,;KLC4,intron_variant,,ENST00000479632,;MRPL2,upstream_gene_variant,,ENST00000388752,NM_015950.3;MRPL2,upstream_gene_variant,,ENST00000487429,;MRPL2,upstream_gene_variant,,ENST00000230413,;MRPL2,upstream_gene_variant,,ENST00000468957,;KLC4,downstream_gene_variant,,ENST00000472792,;MRPL2,upstream_gene_variant,,ENST00000489623,;KLC4,downstream_gene_variant,,ENST00000460283,;KLC4,missense_variant,p.Leu88Met,ENST00000467906,;KLC4,non_coding_transcript_exon_variant,,ENST00000472172,;KLC4,intron_variant,,ENST00000481499,;MRPL2,upstream_gene_variant,,ENST00000491898,;KLC4,upstream_gene_variant,,ENST00000469987,;MRPL2,upstream_gene_variant,,ENST00000470667,;MRPL2,upstream_gene_variant,,ENST00000480286,;KLC4,upstream_gene_variant,,ENST00000468114,;							MODIFIER	-/1860		KLC4_HUMAN			Transcript			.	ENSP00000340221		CCDS4883.1			1	
MTERFD3	0	LGGM	GRCh37	12	107372417	107372417	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	54	5	.	.	ENST00000552029.1:c.76T>C	p.Tyr26His	p.Y26H	ENST00000552029		26	Tac/Cac	0	1		UPI000006E7A4	0	NA	ENST00000240050		ENSG00000120832	30779		59	1.7		HGNC	p.Y26H		MTERFD3		SNV							ENST00000550736	protein_coding	getma.org/?cm=var&var=hg19,12,107372417,A,G&fts=all		hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF1		Y/H		G	low	442/1790		getma.org/?cm=msa&ty=f&p=MTER3_HUMAN&rb=25&re=138&var=Y26H	tolerated(0.53)	F8VXH5_HUMAN,F8VSL4_HUMAN,F8VSD8_HUMAN				MTERFD3,missense_variant,p.Tyr26His,ENST00000552029,;MTERFD3,missense_variant,p.Tyr26His,ENST00000240050,NM_001033050.2;MTERFD3,missense_variant,p.Tyr26His,ENST00000392830,NM_025198.4;MTERFD3,missense_variant,p.Tyr26His,ENST00000548101,;MTERFD3,missense_variant,p.Tyr26His,ENST00000550736,;MTERFD3,missense_variant,p.Tyr26His,ENST00000550496,;C12orf23,downstream_gene_variant,,ENST00000280756,NM_152261.2;C12orf23,downstream_gene_variant,,ENST00000548125,;C12orf23,non_coding_transcript_exon_variant,,ENST00000551237,;C12orf23,non_coding_transcript_exon_variant,,ENST00000548806,;							MODERATE	76/1158	Y26H	MTER3_HUMAN			Transcript		benign(0.003)	.	ENSP00000240050		CCDS9111.1			1	
SHANK2	0	LGGM	GRCh37	11	70333654	70333654	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	5	.	.	ENST00000338508.4:c.2747G>A	p.Arg916Lys	p.R916K	ENST00000338508		916	aGa/aAa	0	1		UPI000198F7E4	0	NA	ENST00000423696		ENSG00000162105	14295		16	1.845		HGNC	p.R194K		SHANK2		SNV			1				ENST00000424924	protein_coding	getma.org/?cm=var&var=hg19,11,70333654,C,T&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		R/K		T	low	1644/7884		getma.org/?cm=msa&ty=f&p=SHAN2_HUMAN&rb=448&re=1283&var=R536K	tolerated(0.2)					SHANK2,missense_variant,p.Arg916Lys,ENST00000338508,;SHANK2,missense_variant,p.Arg320Lys,ENST00000449833,NM_133266.3;SHANK2,missense_variant,p.Arg536Lys,ENST00000423696,;SHANK2,missense_variant,p.Arg319Lys,ENST00000409161,;SHANK2,missense_variant,p.Arg194Lys,ENST00000424924,;SHANK2,missense_variant,p.Arg539Lys,ENST00000294018,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000449116,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000426687,;							MODERATE	1607/4413	R536K	SHAN2_HUMAN			Transcript		benign(0.175)	.	ENSP00000394536					1	
MYBPC3	0	LGGM	GRCh37	11	47372983	47372983	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	4	5	.	.	ENST00000545968.1:c.99A>T	p.Thr33=	p.T33=	ENST00000545968	NM_000256.3	33	acA/acT	0	1	1	UPI000006EEAA	0		ENST00000545968		ENSG00000134571	7551		9			HGNC	p.T33T		MYBPC3		SNV			1				ENST00000544791	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T		A		154/4217				B6D426_HUMAN			YES	MYBPC3,synonymous_variant,p.=,ENST00000545968,NM_000256.3;MYBPC3,synonymous_variant,p.=,ENST00000399249,;MYBPC3,synonymous_variant,p.=,ENST00000256993,;SPI1,downstream_gene_variant,,ENST00000378538,NM_003120.2,NM_001080547.1;SPI1,downstream_gene_variant,,ENST00000227163,;SPI1,downstream_gene_variant,,ENST00000533030,;MYBPC3,synonymous_variant,p.=,ENST00000544791,;							LOW	99/3825		MYPC3_HUMAN			Transcript			.	ENSP00000442795		CCDS53621.1			1	
SLC1A6	0	LGGM	GRCh37	19	15067333	15067333	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	6	.	.	ENST00000221742.3:c.1124G>A	p.Gly375Glu	p.G375E	ENST00000221742	NM_005071.2	375	gGg/gAg	0	1	1	UPI0000129B1A	0	getma.org/pdb.php?prot=EAA4_HUMAN&from=58&to=522&var=G375E	ENST00000221742		ENSG00000105143	10944		17	1.865		HGNC	p.G311E		SLC1A6		SNV							ENST00000430939	protein_coding	getma.org/?cm=var&var=hg19,19,15067333,C,T&fts=all		hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221		G/E		T	low	1132/1719		getma.org/?cm=msa&ty=f&p=EAA4_HUMAN&rb=58&re=522&var=G375E	tolerated(0.48)	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN			YES	SLC1A6,missense_variant,p.Gly311Glu,ENST00000430939,;SLC1A6,missense_variant,p.Gly375Glu,ENST00000221742,NM_005071.2;SLC1A6,intron_variant,,ENST00000600144,;SLC1A6,downstream_gene_variant,,ENST00000598504,NM_001272087.1;SLC1A6,downstream_gene_variant,,ENST00000544886,NM_001272088.1;							MODERATE	1124/1695	G375E	EAA4_HUMAN			Transcript		benign(0.366)	.	ENSP00000221742		CCDS12321.1			1	
RABGGTA	0	LGGM	GRCh37	14	24738864	24738864	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	6	.	.	ENST00000399409.3:c.464A>T	p.Gln155Leu	p.Q155L	ENST00000399409	NM_004581.5	155	cAg/cTg	0	1		UPI000013188E	0	NA	ENST00000216840		ENSG00000100949	9795		17	0.125		HGNC	p.Q155L		RABGGTA		SNV							ENST00000558376	protein_coding	getma.org/?cm=var&var=hg19,14,24738864,T,A&fts=all		Gene3D:1.25.40.120,PROSITE_profiles:PS51147,hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF2,Superfamily_domains:SSF48439		Q/L		A	neutral	771/2088		getma.org/?cm=msa&ty=f&p=PGTA_HUMAN&rb=127&re=156&var=Q155L	tolerated(0.1)	H0YLG7_HUMAN,D3DS70_HUMAN				RABGGTA,missense_variant,p.Gln155Leu,ENST00000399409,NM_004581.5;RABGGTA,missense_variant,p.Gln155Leu,ENST00000216840,NM_182836.2;RABGGTA,5_prime_UTR_variant,,ENST00000560777,;RABGGTA,upstream_gene_variant,,ENST00000560521,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000559586,;RABGGTA,intron_variant,,ENST00000558534,;RABGGTA,upstream_gene_variant,,ENST00000560871,;RABGGTA,downstream_gene_variant,,ENST00000560163,;RABGGTA,downstream_gene_variant,,ENST00000558954,;RABGGTA,missense_variant,p.Gln155Leu,ENST00000559974,;RABGGTA,missense_variant,p.Gln155Leu,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,;							MODERATE	464/1704	Q155L	PGTA_HUMAN			Transcript		benign(0.013)	.	ENSP00000216840		CCDS45088.1			1	
IPCEF1	0	LGGM	GRCh37	6	154544352	154544352	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	13	6	.	.	ENST00000422970.2:c.272A>T	p.Asn91Ile	p.N91I	ENST00000422970	NM_001130699.1	91	aAc/aTc	0	1		UPI0000049885	0	getma.org/pdb.php?prot=ICEF1_HUMAN&from=42&to=139&var=N90I	ENST00000265198		ENSG00000074706	21204		19	1.72		HGNC	p.N90I		IPCEF1		SNV							ENST00000265198	protein_coding	getma.org/?cm=var&var=hg19,6,154544352,T,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		N/I		A	low	425/6689		getma.org/?cm=msa&ty=f&p=ICEF1_HUMAN&rb=42&re=139&var=N90I	deleterious(0)	G3V132_HUMAN,E5RK08_HUMAN,E5RJQ7_HUMAN,E5RGN6_HUMAN,E5RGB6_HUMAN				IPCEF1,missense_variant,p.Asn90Ile,ENST00000265198,NM_015553.2,NM_001130700.1;IPCEF1,missense_variant,p.Asn91Ile,ENST00000422970,NM_001130699.1;IPCEF1,missense_variant,p.Asn91Ile,ENST00000367220,;IPCEF1,missense_variant,p.Asn62Ile,ENST00000519344,;IPCEF1,missense_variant,p.Asn62Ile,ENST00000517438,;IPCEF1,missense_variant,p.Asn62Ile,ENST00000519190,;IPCEF1,missense_variant,p.Asn62Ile,ENST00000519405,;OPRM1,intron_variant,,ENST00000337049,NM_001008503.1;IPCEF1,upstream_gene_variant,,ENST00000519091,;IPCEF1,non_coding_transcript_exon_variant,,ENST00000518162,;OPRM1,intron_variant,,ENST00000524150,;							MODERATE	269/1314	N90I	ICEF1_HUMAN			Transcript		benign(0.383)	.	ENSP00000265198		CCDS5245.1			1	
VWA2	0	LGGM	GRCh37	10	116037762	116037762	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	3	6	.	.	ENST00000603594.1:c.656T>A	p.Phe219Tyr	p.F219Y	ENST00000603594		219	tTc/tAc	0	1		UPI00004C7AA3	0	getma.org/pdb.php?prot=VWA2_HUMAN&from=51&to=222&var=F219Y	ENST00000392982		ENSG00000165816	24709		9	0.205		HGNC	p.F219Y		VWA2		SNV							ENST00000298715	protein_coding	getma.org/?cm=var&var=hg19,10,116037762,T,A&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF9,hmmpanther:PTHR22992,Gene3D:3.40.50.410,SMART_domains:SM00327		F/Y		A	neutral	906/2794		getma.org/?cm=msa&ty=f&p=VWA2_HUMAN&rb=51&re=222&var=F219Y	tolerated(1)					VWA2,missense_variant,p.Phe219Tyr,ENST00000603594,;VWA2,missense_variant,p.Phe219Tyr,ENST00000392982,NM_001272046.1;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;							MODERATE	656/2268	F219Y	VWA2_HUMAN			Transcript		benign(0.006)	.	ENSP00000376708		CCDS7589.2			1	
TSC22D2	0	LGGM	GRCh37	3	150128844	150128844	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	42	6	.	.	ENST00000361875.3:c.1707A>C	p.Pro569=	p.P569=	ENST00000361875	NM_014779.2	569	ccA/ccC	0	1	1	UPI00000722E0	0		ENST00000361875		ENSG00000196428	29095		48			HGNC	p.P569P		TSC22D2		SNV							ENST00000361136	protein_coding			hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF19		P		C		2723/11154							YES	TSC22D2,synonymous_variant,p.=,ENST00000361875,NM_014779.2;TSC22D2,synonymous_variant,p.=,ENST00000361136,;TSC22D2,synonymous_variant,p.=,ENST00000466814,;TSC22D2,synonymous_variant,p.=,ENST00000480589,;TSC22D2,upstream_gene_variant,,ENST00000485421,;							LOW	1707/2343		T22D2_HUMAN			Transcript			.	ENSP00000354543		CCDS3149.1			1	
FANCM	0	LGGM	GRCh37	14	45669196	45669196	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	38	6	.	.	ENST00000267430.5:c.6132G>A	p.Leu2044=	p.L2044=	ENST00000267430	NM_020937.2	2044	ctG/ctA	0	1	1	UPI000059F032	0		ENST00000267430		ENSG00000187790	23168		44			HGNC	p.L2044L		FANCM		SNV			1				ENST00000267430	protein_coding					L		A		6217/7111							YES	FANCM,synonymous_variant,p.=,ENST00000267430,NM_020937.2;FANCM,synonymous_variant,p.=,ENST00000542564,;FANCM,synonymous_variant,p.=,ENST00000556250,;FANCM,synonymous_variant,p.=,ENST00000554809,;FANCM,3_prime_UTR_variant,,ENST00000555484,;MIS18BP1,downstream_gene_variant,,ENST00000310806,NM_018353.4;MIS18BP1,downstream_gene_variant,,ENST00000470424,;FANCM,downstream_gene_variant,,ENST00000557110,;FANCM,downstream_gene_variant,,ENST00000553551,;MIS18BP1,downstream_gene_variant,,ENST00000496413,;							LOW	6132/6147		FANCM_HUMAN			Transcript			.	ENSP00000267430		CCDS32070.1			1	
ACSF2	0	LGGM	GRCh37	17	48541193	48541193	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	81	6	.	.	ENST00000300441.4:c.1061A>G	p.Tyr354Cys	p.Y354C	ENST00000300441	NM_025149.4	354	tAt/tGt	0	1	1	UPI0000049DEF	0	getma.org/pdb.php?prot=ACSF2_HUMAN&from=101&to=540&var=Y354C	ENST00000300441		ENSG00000167107	26101		87	2.59		HGNC	p.Y194C		ACSF2		SNV							ENST00000541920	protein_coding	getma.org/?cm=var&var=hg19,17,48541193,A,G&fts=all		hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		Y/C		G	medium	1165/2235		getma.org/?cm=msa&ty=f&p=ACSF2_HUMAN&rb=101&re=540&var=Y354C	deleterious(0)	B4DUF5_HUMAN			YES	ACSF2,missense_variant,p.Tyr379Cys,ENST00000427954,;ACSF2,missense_variant,p.Tyr354Cys,ENST00000300441,NM_025149.4;ACSF2,missense_variant,p.Tyr341Cys,ENST00000502667,;ACSF2,missense_variant,p.Tyr311Cys,ENST00000504392,;ACSF2,missense_variant,p.Tyr194Cys,ENST00000541920,;CHAD,downstream_gene_variant,,ENST00000508540,NM_001267.2;CHAD,downstream_gene_variant,,ENST00000258969,;CHAD,downstream_gene_variant,,ENST00000506187,;ACSF2,downstream_gene_variant,,ENST00000506582,;ACSF2,upstream_gene_variant,,ENST00000506085,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,upstream_gene_variant,,ENST00000513544,;ACSF2,upstream_gene_variant,,ENST00000508734,;ACSF2,missense_variant,p.Tyr18Cys,ENST00000510262,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,non_coding_transcript_exon_variant,,ENST00000513101,;ACSF2,intron_variant,,ENST00000508245,;ACSF2,upstream_gene_variant,,ENST00000511288,;ACSF2,downstream_gene_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,downstream_gene_variant,,ENST00000570356,;							MODERATE	1061/1848	Y354C	ACSF2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000300441		CCDS11567.1			1	
KCTD10	0	LGGM	GRCh37	12	109889566	109889566	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	14	6	.	.	ENST00000228495.6:c.776A>T	p.Tyr259Phe	p.Y259F	ENST00000228495	NM_031954.3	259	tAt/tTt	0	1	1	UPI000004DAE1	0	NA	ENST00000228495		ENSG00000110906	23236		20	2.14		HGNC	p.Y78F		KCTD10		SNV							ENST00000424763	protein_coding	getma.org/?cm=var&var=hg19,12,109889566,T,A&fts=all		hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF14		Y/F		A	medium	1058/4163		getma.org/?cm=msa&ty=f&p=BACD3_HUMAN&rb=125&re=313&var=Y259F	tolerated(0.09)	F5H268_HUMAN,F5GY15_HUMAN,F5GWK6_HUMAN,B3KVY5_HUMAN			YES	KCTD10,missense_variant,p.Tyr259Phe,ENST00000228495,NM_031954.3;KCTD10,missense_variant,p.Tyr78Phe,ENST00000540089,;KCTD10,missense_variant,p.Tyr78Phe,ENST00000424763,;KCTD10,missense_variant,p.Tyr233Phe,ENST00000540411,;KCTD10,missense_variant,p.Tyr78Phe,ENST00000535546,;KCTD10,missense_variant,p.Tyr78Phe,ENST00000542954,;KCTD10,missense_variant,p.Tyr78Phe,ENST00000540355,;MYO1H,downstream_gene_variant,,ENST00000310903,;MYO1H,downstream_gene_variant,,ENST00000431443,NM_001101421.3;KCTD10,downstream_gene_variant,,ENST00000542858,;KCTD10,downstream_gene_variant,,ENST00000542262,;RP11-256L11.3,upstream_gene_variant,,ENST00000539987,;KCTD10,non_coding_transcript_exon_variant,,ENST00000538161,;KCTD10,3_prime_UTR_variant,,ENST00000537165,;KCTD10,3_prime_UTR_variant,,ENST00000440541,;KCTD10,non_coding_transcript_exon_variant,,ENST00000545759,;KCTD10,non_coding_transcript_exon_variant,,ENST00000540402,;MYO1H,intron_variant,,ENST00000543960,;MYO1H,downstream_gene_variant,,ENST00000542268,;KCTD10,downstream_gene_variant,,ENST00000541077,;							MODERATE	776/942	Y259F	BACD3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000228495		CCDS9128.1			1	
MATK	0	LGGM	GRCh37	19	3779794	3779794	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	12	6	.	.	ENST00000395045.2:c.747T>A	p.Ala249=	p.A249=	ENST00000395045	NM_002378.3	249	gcT/gcA	0	1		UPI0000000C50	0		ENST00000310132		ENSG00000007264	6906		18			HGNC	p.A129A		MATK		SNV							ENST00000587180	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,PROSITE_patterns:PS00107,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF55550,Superfamily_domains:SSF56112		A		T		1143/2133				K7ERY4_HUMAN,K7EQV3_HUMAN,K7ENL8_HUMAN,F1T0G6_HUMAN				MATK,splice_region_variant,p.=,ENST00000310132,NM_139355.2;MATK,splice_region_variant,p.=,ENST00000395045,NM_002378.3;MATK,splice_region_variant,p.=,ENST00000585778,;MATK,splice_region_variant,p.=,ENST00000395040,NM_139354.2;MATK,splice_region_variant,p.=,ENST00000590493,;MATK,splice_region_variant,p.=,ENST00000587180,;MATK,splice_region_variant,p.=,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590028,;MATK,downstream_gene_variant,,ENST00000590849,;AC005777.3,upstream_gene_variant,,ENST00000588332,;							LOW	744/1524		MATK_HUMAN			Transcript			.	ENSP00000308734		CCDS12114.1			1	
XPO7	0	LGGM	GRCh37	8	21832271	21832271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	25	6	.	.	ENST00000252512.9:c.583A>T	p.Asn195Tyr	p.N195Y	ENST00000252512	NM_015024.4	195	Aat/Tat	0	1	1	UPI0000134559	0	NA	ENST00000252512		ENSG00000130227	14108		31	0.695		HGNC	p.N204Y		XPO7		SNV							ENST00000434536	protein_coding	getma.org/?cm=var&var=hg19,8,21832271,A,T&fts=all		hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7,Superfamily_domains:SSF48371		N/Y		T	neutral	683/4861		getma.org/?cm=msa&ty=f&p=XPO7_HUMAN&rb=97&re=296&var=N195Y	deleterious(0)	E5RIW1_HUMAN,B4DSP8_HUMAN			YES	XPO7,missense_variant,p.Asn204Tyr,ENST00000434536,;XPO7,missense_variant,p.Asn195Tyr,ENST00000252512,NM_015024.4;XPO7,missense_variant,p.Asn196Tyr,ENST00000433566,;XPO7,downstream_gene_variant,,ENST00000521303,;XPO7,non_coding_transcript_exon_variant,,ENST00000518017,;XPO7,downstream_gene_variant,,ENST00000519769,;							MODERATE	583/3264	N195Y	XPO7_HUMAN			Transcript		benign(0.027)	.	ENSP00000252512		CCDS47818.1			1	
GNAZ	0	LGGM	GRCh37	22	23465474	23465474	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	26	6	.	.	ENST00000248996.4:c.924T>A	p.Phe308Leu	p.F308L	ENST00000248996	NM_002073.2	308	ttT/ttA	0	1	1	UPI0000001249	0	getma.org/pdb.php?prot=GNAZ_HUMAN&from=2&to=355&var=F308L	ENST00000248996		ENSG00000128266	4395		32	3.25		HGNC	p.F308L		GNAZ		SNV							ENST00000248996	protein_coding	getma.org/?cm=var&var=hg19,22,23465474,T,A&fts=all		Prints_domain:PR00441,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF65,hmmpanther:PTHR10218		F/L		A	medium	1590/3340		getma.org/?cm=msa&ty=f&p=GNAZ_HUMAN&rb=2&re=355&var=F308L	deleterious(0.01)				YES	GNAZ,missense_variant,p.Phe308Leu,ENST00000248996,NM_002073.2;RTDR1,intron_variant,,ENST00000216036,NM_014433.2;RTDR1,downstream_gene_variant,,ENST00000421213,;GNAZ,non_coding_transcript_exon_variant,,ENST00000479571,;							MODERATE	924/1068	F308L	GNAZ_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000248996		CCDS13804.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	53	25	.	.	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33C	ENST00000349496	pathogenic	ENSG00000168036	2514		78	2.46		HGNC	p.S33C	rs121913400,COSM5677	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266101,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	378/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	98/2346	S33C	CTNB1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000344456		CCDS2694.1			1	
R3HDM4	0	LGGM	GRCh37	19	899439	899439	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	10	7	.	.	ENST00000361574.5:c.703+1G>A		p.X235_splice	ENST00000361574	NM_138774.3			0	1	1	UPI00001B50F1	0		ENST00000361574		ENSG00000198858	28270		17			HGNC	-		R3HDM4		SNV							ENST00000361574	protein_coding							T		-/1815							YES	R3HDM4,splice_donor_variant,,ENST00000361574,NM_138774.3;R3HDM4,splice_donor_variant,,ENST00000587975,;R3HDM4,splice_donor_variant,,ENST00000589428,;R3HDM4,downstream_gene_variant,,ENST00000590454,;R3HDM4,downstream_gene_variant,,ENST00000590259,;R3HDM4,downstream_gene_variant,,ENST00000591829,;R3HDM4,downstream_gene_variant,,ENST00000589445,;R3HDM4,downstream_gene_variant,,ENST00000586080,;							HIGH	703/807		R3HD4_HUMAN			Transcript			.	ENSP00000355385		CCDS12048.1			1	
NPHP4	0	LGGM	GRCh37	1	5937274	5937274	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	9	7	.	.	ENST00000378156.4:c.2696A>T	p.Lys899Met	p.K899M	ENST00000378156	NM_015102.3	899	aAg/aTg	0	1	1	UPI00001303E5	0	NA	ENST00000378156		ENSG00000131697	19104		16	1.59		HGNC	p.K899M		NPHP4		SNV			1				ENST00000378156	protein_coding	getma.org/?cm=var&var=hg19,1,5937274,T,A&fts=all		hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043		K/M		A	low	2962/4994		getma.org/?cm=msa&ty=f&p=NPHP4_HUMAN&rb=529&re=1424&var=K899M	tolerated(0.07)				YES	NPHP4,missense_variant,p.Lys899Met,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,;							MODERATE	2696/4281	K899M	NPHP4_HUMAN			Transcript		possibly_damaging(0.712)	.	ENSP00000367398		CCDS44052.1			1	
DNAH17	0	LGGM	GRCh37	17	76441710	76441710	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	28	7	.	.	ENST00000389840.5:c.11222G>A	p.Arg3741Gln	p.R3741Q	ENST00000389840		3741	cGg/cAg	0	1	1	UPI0001A5EE11	0	getma.org/pdb.php?prot=DYH17_HUMAN&from=3618&to=3743&var=R3741Q	ENST00000389840		ENSG00000187775	2946		35	2.96		HGNC	p.R3741Q	rs547772692	DNAH17	0.000122	SNV				0.000289			ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76441710,C,T&fts=all	T:0.0008	hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676		R/Q		T	medium	11347/13792	7.05E-05	getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=3618&re=3743&var=R3741Q			T:0	T:0	YES	DNAH17,missense_variant,p.Arg3741Gln,ENST00000389840,;DNAH17,missense_variant,p.Arg3750Gln,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,missense_variant,p.Arg956Gln,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;		T:0.0002					MODERATE	11222/13458	R3741Q	DYH17_HUMAN		T:0	Transcript		possibly_damaging(0.891)	.	ENSP00000374490	3.33E-05			T:0	1	
CEACAM18	0	LGGM	GRCh37	19	51981892	51981892	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	12	7	.	.	ENST00000451626.1:c.179A>T	p.Gln60Leu	p.Q60L	ENST00000451626		60	cAg/cTg	0	1		UPI0002C5E52C	0	NA	ENST00000396477		ENSG00000213822	31949		19	0		HGNC	p.Q60L		CEACAM18		SNV							ENST00000451626	protein_coding	getma.org/?cm=var&var=hg19,19,51981892,A,T&fts=all						T	neutral	17/1476		getma.org/?cm=msa&ty=f&p=CEA18_HUMAN&rb=1&re=105&var=Q60L						CEACAM18,missense_variant,p.Gln60Leu,ENST00000451626,;CEACAM18,5_prime_UTR_variant,,ENST00000396477,NM_001278392.1;							MODIFIER	-/1155	Q60L	CEA18_HUMAN			Transcript			.	ENSP00000379738					1	
OSBPL3	0	LGGM	GRCh37	7	24859796	24859796	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	9	7	.	.	ENST00000313367.2:c.1946A>G	p.Gln649Arg	p.Q649R	ENST00000313367	NM_015550.2	649	cAa/cGa	0	1	1	UPI0000001244	0	getma.org/pdb.php?prot=OSBL3_HUMAN&from=527&to=872&var=Q649R	ENST00000313367		ENSG00000070882	16370		16	3.295		HGNC	p.Q613R		OSBPL3		SNV							ENST00000353930	protein_coding	getma.org/?cm=var&var=hg19,7,24859796,T,C&fts=all		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15		Q/R		C	medium	2398/6760		getma.org/?cm=msa&ty=f&p=OSBL3_HUMAN&rb=527&re=872&var=Q649R	deleterious(0.03)	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN			YES	OSBPL3,missense_variant,p.Gln649Arg,ENST00000313367,NM_015550.2;OSBPL3,missense_variant,p.Gln618Arg,ENST00000352860,NM_145320.1;OSBPL3,missense_variant,p.Gln613Arg,ENST00000353930,NM_145321.1;OSBPL3,missense_variant,p.Gln582Arg,ENST00000431825,NM_145322.1;OSBPL3,missense_variant,p.Gln618Arg,ENST00000396431,;OSBPL3,missense_variant,p.Gln613Arg,ENST00000396429,;OSBPL3,missense_variant,p.Gln582Arg,ENST00000409069,;OSBPL3,splice_region_variant,,ENST00000409863,;OSBPL3,splice_region_variant,,ENST00000409452,;OSBPL3,splice_region_variant,,ENST00000409759,;OSBPL3,splice_region_variant,,ENST00000409555,;							MODERATE	1946/2664	Q649R	OSBL3_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000315410		CCDS5390.1			1	
MYT1	0	LGGM	GRCh37	20	62858788	62858788	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	7	.	.	ENST00000328439.1:c.2549A>T	p.Asp850Val	p.D850V	ENST00000328439	NM_004535.2	850	gAc/gTc	0	1	1	UPI000012FBFA	0	getma.org/pdb.php?prot=MYT1_HUMAN&from=841&to=871&var=D850V	ENST00000328439		ENSG00000196132	7622		18	2.175		HGNC	p.D850V		MYT1		SNV							ENST00000328439	protein_coding	getma.org/?cm=var&var=hg19,20,62858788,A,T&fts=all		Superfamily_domains:0042508,Pfam_domain:PF01530,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10		D/V		T	medium	2913/5533		getma.org/?cm=msa&ty=f&p=MYT1_HUMAN&rb=841&re=871&var=D850V					YES	MYT1,missense_variant,p.Asp877Val,ENST00000536311,;MYT1,missense_variant,p.Asp850Val,ENST00000328439,NM_004535.2;MYT1,missense_variant,p.Asp529Val,ENST00000360149,;							MODERATE	2549/3366	D850V	MYT1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000327465		CCDS13558.1			1	
TTC21B	0	LGGM	GRCh37	2	166785662	166785662	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	33	7	.	.	ENST00000243344.7:c.1369A>T	p.Ser457Cys	p.S457C	ENST00000243344	NM_024753.4	457	Agc/Tgc	0	1	1	UPI000020900A	0	NA	ENST00000243344		ENSG00000123607	25660		40	0.69		HGNC	p.S457C		TTC21B		SNV			1				ENST00000243344	protein_coding	getma.org/?cm=var&var=hg19,2,166785662,T,A&fts=all		hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1		S/C		A	neutral	1507/5482		getma.org/?cm=msa&ty=f&p=TT21B_HUMAN&rb=411&re=474&var=S457C	tolerated(0.19)	B3KU32_HUMAN			YES	TTC21B,missense_variant,p.Ser457Cys,ENST00000243344,NM_024753.4;TTC21B-AS1,upstream_gene_variant,,ENST00000440322,;TTC21B-AS1,upstream_gene_variant,,ENST00000443032,;TTC21B,non_coding_transcript_exon_variant,,ENST00000464374,;TTC21B-AS1,upstream_gene_variant,,ENST00000446624,;							MODERATE	1369/3951	S457C	TT21B_HUMAN			Transcript		benign(0.264)	.	ENSP00000243344		CCDS33315.1			1	
DDX17	0	LGGM	GRCh37	22	38888059	38888059	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	20	7	.	.	ENST00000396821.3:c.1447+2T>G		p.X483_splice	ENST00000396821	NM_006386.4			0	1		UPI00003670EA	0		ENST00000403230		ENSG00000100201	2740		27			HGNC	p.G404G		DDX17		SNV							ENST00000381633	protein_coding							C		-/2322				G5E9L5_HUMAN				DDX17,splice_donor_variant,,ENST00000396821,NM_006386.4,NM_001098504.1;DDX17,splice_donor_variant,,ENST00000403230,;DDX17,splice_region_variant,p.=,ENST00000381633,;DDX17,upstream_gene_variant,,ENST00000444597,;DDX17,splice_donor_variant,,ENST00000432525,;DDX17,splice_donor_variant,,ENST00000475004,;DDX17,non_coding_transcript_exon_variant,,ENST00000216019,;DDX17,upstream_gene_variant,,ENST00000431312,;DDX17,downstream_gene_variant,,ENST00000497196,;DDX17,downstream_gene_variant,,ENST00000477112,;							HIGH	1447/2190		DDX17_HUMAN			Transcript			.	ENSP00000385536		CCDS33646.1			1	
SMAD9	0	LGGM	GRCh37	13	37453423	37453423	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	12	8	.	.	ENST00000379826.4:c.404A>T	p.Glu135Val	p.E135V	ENST00000379826	NM_001127217.2	135	gAg/gTg	0	1	1	UPI0000135A85	0	getma.org/pdb.php?prot=SMAD9_HUMAN&from=34&to=135&var=E135V	ENST00000379826		ENSG00000120693	6774		20	3.2		HGNC	p.E135V		SMAD9		SNV			1				ENST00000379826	protein_coding	getma.org/?cm=var&var=hg19,13,37453423,T,A&fts=all		Superfamily_domains:0040928,SMART_domains:SM00523,Pfam_domain:PF03165,Gene3D:1ozjA00,hmmpanther:PTHR13703:SF37,hmmpanther:PTHR13703,PROSITE_profiles:PS51075		E/V		A	medium	747/5592		getma.org/?cm=msa&ty=f&p=SMAD9_HUMAN&rb=34&re=135&var=E135V	deleterious(0.03)				YES	SMAD9,missense_variant,p.Glu135Val,ENST00000379826,NM_001127217.2;SMAD9,missense_variant,p.Glu135Val,ENST00000350148,NM_005905.5;SMAD9,missense_variant,p.Glu135Val,ENST00000399275,;SMAD9,downstream_gene_variant,,ENST00000483941,;							MODERATE	404/1404	E135V	SMAD9_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000369154		CCDS45032.1			1	
OBSCN	0	LGGM	GRCh37	1	228548139	228548139	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	20	9	.	.	ENST00000570156.2:c.21533-2138A>T		*7178*	ENST00000570156	NM_001271223.2			0	1		UPI0001838884	0	NA	ENST00000422127		ENSG00000154358	15719		29	0.69		HGNC	p.S6516C		OBSCN		SNV							ENST00000284548	protein_coding	getma.org/?cm=var&var=hg19,1,228548139,A,T&fts=all						T	neutral	-/24030		getma.org/?cm=msa&ty=f&p=F8W8T3_HUMAN&rb=3601&re=3739&var=S3635C						OBSCN,missense_variant,p.Ser6516Cys,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Ser3635Cys,ENST00000366709,;OBSCN,3_prime_UTR_variant,,ENST00000474237,;OBSCN,intron_variant,,ENST00000570156,NM_001271223.2;OBSCN,intron_variant,,ENST00000366707,;OBSCN,intron_variant,,ENST00000422127,NM_001098623.2;OBSCN,intron_variant,,ENST00000441106,;							MODIFIER	-/23907	S3635C	OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
CTSD	0	LGGM	GRCh37	11	1782620	1782620	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	14	9	.	.	ENST00000236671.2:c.147A>T	p.Lys49Asn	p.K49N	ENST00000236671	NM_001909.4	49	aaA/aaT	0	1	1	UPI00000463E2	0	NA	ENST00000236671		ENSG00000117984	2529		23	0.425		HGNC	p.K34N		CTSD		SNV			1				ENST00000438213	protein_coding	getma.org/?cm=var&var=hg19,11,1782620,T,A&fts=all		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF230,Superfamily_domains:SSF50630		K/N		A	neutral	280/2123		getma.org/?cm=msa&ty=f&p=CATD_HUMAN&rb=1&re=69&var=K49N	tolerated(0.2)	F8WD96_HUMAN,F8W787_HUMAN			YES	CTSD,missense_variant,p.Lys49Asn,ENST00000236671,NM_001909.4;CTSD,missense_variant,p.Lys34Asn,ENST00000438213,;CTSD,missense_variant,p.Lys14Asn,ENST00000367196,;RP11-295K3.1,upstream_gene_variant,,ENST00000427721,;AC068580.1,upstream_gene_variant,,ENST00000580120,;AC068580.6,non_coding_transcript_exon_variant,,ENST00000449248,;AC068580.5,downstream_gene_variant,,ENST00000446489,;CTSD,missense_variant,p.Lys49Asn,ENST00000433655,;							MODERATE	147/1239	K49N	CATD_HUMAN			Transcript		benign(0.008)	.	ENSP00000236671		CCDS7725.1			1	
GUCY2C	0	LGGM	GRCh37	12	14849331	14849331	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	18	9	.	.	ENST00000261170.3:c.52G>A	p.Gly18Arg	p.G18R	ENST00000261170	NM_004963.3	18	Ggg/Agg	0	1	1	UPI000013D135	0	NA	ENST00000261170		ENSG00000070019	4688		27	0.695		HGNC	p.G18R	rs780575858	GUCY2C		SNV			1				ENST00000261170	protein_coding	getma.org/?cm=var&var=hg19,12,14849331,C,T&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF41,Cleavage_site_(Signalp):SignalP-noTM		G/R		T	neutral	189/3834	3.00E-05	getma.org/?cm=msa&ty=f&p=GUC2C_HUMAN&rb=1&re=52&var=G18R	tolerated(0.4)				YES	GUCY2C,missense_variant,p.Gly18Arg,ENST00000261170,NM_004963.3;RP11-174G6.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,;							MODERATE	52/3222	G18R	GUC2C_HUMAN			Transcript		benign(0.001)	.	ENSP00000261170	1.65E-05	CCDS8664.1			1	
DSG4	0	LGGM	GRCh37	18	28986118	28986118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	29	9	.	.	ENST00000359747.4:c.1715A>G	p.Tyr572Cys	p.Y572C	ENST00000359747	NM_001134453.1	572	tAt/tGt	0	1		UPI0000062276	0	getma.org/pdb.php?prot=DSG4_HUMAN&from=489&to=688&var=Y572C	ENST00000308128		ENSG00000175065	21307		38	1.67		HGNC	p.Y572C	COSM401760,COSM401759	DSG4		SNV			1			1,1	ENST00000359747	protein_coding	getma.org/?cm=var&var=hg19,18,28986118,A,G&fts=all		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10		Y/C		G	low	1850/3579		getma.org/?cm=msa&ty=f&p=DSG4_HUMAN&rb=489&re=688&var=Y572C	tolerated(0.13)					DSG4,missense_variant,p.Tyr572Cys,ENST00000359747,NM_001134453.1;DSG4,missense_variant,p.Tyr572Cys,ENST00000308128,NM_177986.3;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,upstream_gene_variant,,ENST00000581452,;					1,1		MODERATE	1715/3123	Y572C	DSG4_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000311859		CCDS11897.1			1	
NLRP5	0	LGGM	GRCh37	19	56538394	56538394	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	9	9	.	.	ENST00000390649.3:c.795G>A	p.Thr265=	p.T265=	ENST00000390649	NM_153447.4	265	acG/acA	0	1	1	UPI00001AEEBD	0		ENST00000390649		ENSG00000171487	21269		18			HGNC	p.T265T	rs779091654,COSM1001759	NLRP5		SNV						0,1	ENST00000390649	protein_coding			hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106		T		A		795/3888							YES	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;					0,1		LOW	795/3603		NALP5_HUMAN			Transcript			.	ENSP00000375063	1.97E-05	CCDS12938.1			1	
ARHGEF10L	0	LGGM	GRCh37	1	18023759	18023759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	9	9	.	.	ENST00000361221.3:c.3724T>C	p.Ser1242Pro	p.S1242P	ENST00000361221	NM_018125.3	1242	Tcc/Ccc	0	1	1	UPI00003664EA	0	NA	ENST00000361221		ENSG00000074964	25540		18	2.215		HGNC	p.S1242P		ARHGEF10L		SNV							ENST00000361221	protein_coding	getma.org/?cm=var&var=hg19,1,18023759,T,C&fts=all		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16		S/P		C	medium	3883/4488		getma.org/?cm=msa&ty=f&p=ARGAL_HUMAN&rb=1103&re=1279&var=S1242P	deleterious(0.01)				YES	ARHGEF10L,missense_variant,p.Ser1242Pro,ENST00000361221,NM_018125.3;ARHGEF10L,missense_variant,p.Ser1203Pro,ENST00000452522,;ARHGEF10L,missense_variant,p.Ser1203Pro,ENST00000375415,NM_001011722.2;ARHGEF10L,missense_variant,p.Ser1015Pro,ENST00000375408,;ARHGEF10L,missense_variant,p.Ser945Pro,ENST00000167825,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000495593,;							MODERATE	3724/3840	S1242P	ARGAL_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000355060		CCDS182.1			1	
DSC3	0	LGGM	GRCh37	18	28604358	28604358	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	23	9	.	.	ENST00000360428.4:c.732A>T	p.Thr244=	p.T244=	ENST00000360428	NM_001941.3	244	acA/acT	0	1	1	UPI000004CAAD	0		ENST00000360428		ENSG00000134762	3037		32			HGNC	p.T244T		DSC3		SNV			1				ENST00000360428	protein_coding			Prints_domain:PR00205,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268		T		A		813/6939							YES	DSC3,synonymous_variant,p.=,ENST00000434452,NM_024423.2;DSC3,synonymous_variant,p.=,ENST00000360428,NM_001941.3;							LOW	732/2691		DSC3_HUMAN			Transcript			.	ENSP00000353608		CCDS32810.1			1	
PRSS35	0	LGGM	GRCh37	6	84233595	84233595	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	71	10	.	.	ENST00000536636.1:c.435C>T	p.Ser145=	p.S145=	ENST00000536636	NM_001170423.1	145	agC/agT	0	1		UPI000006D2C7	0		ENST00000369700		ENSG00000146250	21387		81			HGNC	p.S145S		PRSS35		SNV							ENST00000369700	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF7,Superfamily_domains:SSF50494		S		T		612/2440								PRSS35,synonymous_variant,p.=,ENST00000536636,NM_001170423.1;PRSS35,synonymous_variant,p.=,ENST00000369700,NM_153362.2;							LOW	435/1242		PRS35_HUMAN			Transcript			.	ENSP00000358714		CCDS4999.1			1	
NCK2	0	LGGM	GRCh37	2	106498176	106498176	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	13	10	.	.	ENST00000233154.4:c.619A>T	p.Ser207Cys	p.S207C	ENST00000233154	NM_003581.4	207	Agc/Tgc	0	1	1	UPI000012FE3F	0	getma.org/pdb.php?prot=NCK2_HUMAN&from=201&to=249&var=S207C	ENST00000233154		ENSG00000071051	7665		23	1.995		HGNC	p.S207C		NCK2		SNV							ENST00000233154	protein_coding	getma.org/?cm=var&var=hg19,2,106498176,A,T&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF29,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,PIRSF_domain:PIRSF037874,Superfamily_domains:SSF50044		S/C		T	medium	1061/2683		getma.org/?cm=msa&ty=f&p=NCK2_HUMAN&rb=201&re=249&var=S207C	deleterious(0.05)	Q53TG4_HUMAN,Q53T91_HUMAN,E9PEE2_HUMAN,E7EPF5_HUMAN			YES	NCK2,missense_variant,p.Ser207Cys,ENST00000233154,NM_003581.4;NCK2,missense_variant,p.Ser207Cys,ENST00000393349,NM_001004720.2;NCK2,intron_variant,,ENST00000451463,NM_001004722.3;NCK2,intron_variant,,ENST00000522586,;NCK2,downstream_gene_variant,,ENST00000393348,;NCK2,downstream_gene_variant,,ENST00000425756,;							MODERATE	619/1143	S207C	NCK2_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000233154		CCDS33266.1			1	
CIB4	0	LGGM	GRCh37	2	26805709	26805709	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	16	10	.	.	ENST00000288861.4:c.511T>A	p.Ser171Thr	p.S171T	ENST00000288861	NM_001029881.1	171	Tct/Act	0	1	1	UPI0000160176	0	getma.org/pdb.php?prot=CIB4_HUMAN&from=138&to=174&var=S171T	ENST00000288861		ENSG00000157884	33703		26	1.425		HGNC	p.S171T		CIB4		SNV							ENST00000288861	protein_coding	getma.org/?cm=var&var=hg19,2,26805709,A,T&fts=all		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF35,SMART_domains:SM00054,Superfamily_domains:SSF47473		S/T		T	low	565/773		getma.org/?cm=msa&ty=f&p=CIB4_HUMAN&rb=138&re=174&var=S171T	deleterious(0)				YES	CIB4,missense_variant,p.Ser171Thr,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,;							MODERATE	511/558	S171T	CIB4_HUMAN			Transcript		benign(0.301)	.	ENSP00000288861		CCDS33160.1			1	
RASA1	0	LGGM	GRCh37	5	86681150	86681150	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	50	10	.	.	ENST00000274376.6:c.2791A>G	p.Ile931Val	p.I931V	ENST00000274376	NM_002890.2	931	Ata/Gta	0	1	1	UPI00001351F3	0	getma.org/pdb.php?prot=RASA1_HUMAN&from=769&to=942&var=I931V	ENST00000274376		ENSG00000145715	9871		60	0.08		HGNC	p.I764V		RASA1		SNV			1				ENST00000512763	protein_coding	getma.org/?cm=var&var=hg19,5,86681150,A,G&fts=all		Gene3D:1.10.506.10,Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350		I/V		G	neutral	3355/3752		getma.org/?cm=msa&ty=f&p=RASA1_HUMAN&rb=769&re=942&var=I931V	tolerated(1)	B4DTL8_HUMAN			YES	RASA1,missense_variant,p.Ile754Val,ENST00000456692,NM_022650.2;RASA1,missense_variant,p.Ile931Val,ENST00000274376,NM_002890.2;RASA1,missense_variant,p.Ile764Val,ENST00000512763,;RASA1,missense_variant,p.Ile765Val,ENST00000506290,;RASA1,3_prime_UTR_variant,,ENST00000515800,;							MODERATE	2791/3144	I931V	RASA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000274376		CCDS34200.1			1	
FETUB	0	LGGM	GRCh37	3	186358839	186358839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	15	10	.	.	ENST00000265029.3:c.246C>A	p.Phe82Leu	p.F82L	ENST00000265029	NM_014375.2	82	ttC/ttA	0	1	1	UPI00000361F3	0	NA	ENST00000265029		ENSG00000090512	3658		25	2.095		HGNC	p.F82L		FETUB		SNV							ENST00000450521	protein_coding	getma.org/?cm=var&var=hg19,3,186358839,C,A&fts=all		Superfamily_domains:SSF54403,SMART_domains:SM00043,Gene3D:3.10.450.10,Pfam_domain:PF00031,PROSITE_patterns:PS01254,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF10,PROSITE_profiles:PS51530		F/L		A	medium	347/1627		getma.org/?cm=msa&ty=f&p=FETUB_HUMAN&rb=31&re=125&var=F82L	deleterious(0)	C9JC68_HUMAN,B7Z8T3_HUMAN			YES	FETUB,missense_variant,p.Phe82Leu,ENST00000265029,NM_014375.2;FETUB,missense_variant,p.Phe82Leu,ENST00000450521,;FETUB,intron_variant,,ENST00000539949,;FETUB,intron_variant,,ENST00000382134,;FETUB,intron_variant,,ENST00000382136,;FETUB,intron_variant,,ENST00000431018,;RP11-134F2.2,downstream_gene_variant,,ENST00000428501,;RP11-134F2.2,downstream_gene_variant,,ENST00000455926,;FETUB,intron_variant,,ENST00000488561,;FETUB,missense_variant,p.Phe82Leu,ENST00000435961,;FETUB,missense_variant,p.Leu84Ile,ENST00000420570,;							MODERATE	246/1149	F82L	FETUB_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000265029		CCDS3279.1			1	
SLC7A13	0	LGGM	GRCh37	8	87226776	87226776	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	41	11	.	.	ENST00000297524.3:c.1279C>G	p.Leu427Val	p.L427V	ENST00000297524	NM_138817.2	427	Ctg/Gtg	0	1	1	UPI000006DF39	0	NA	ENST00000297524		ENSG00000164893	23092		52	1.65		HGNC	p.L427V		SLC7A13		SNV							ENST00000297524	protein_coding	getma.org/?cm=var&var=hg19,8,87226776,G,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,PIRSF_domain:PIRSF006060		L/V		C	low	1383/1878		getma.org/?cm=msa&ty=f&p=S7A13_HUMAN&rb=13&re=438&var=L427V	tolerated(0.28)				YES	SLC7A13,missense_variant,p.Leu427Val,ENST00000297524,NM_138817.2;SLC7A13,3_prime_UTR_variant,,ENST00000419776,;CTD-3118D11.3,downstream_gene_variant,,ENST00000523112,;SLC7A13,downstream_gene_variant,,ENST00000520624,;							MODERATE	1279/1413	L427V	S7A13_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000297524		CCDS34917.1			1	
RASA1	0	LGGM	GRCh37	5	86681155	86681155	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	50	11	.	.	ENST00000274376.6:c.2796A>G	p.Leu932=	p.L932=	ENST00000274376	NM_002890.2	932	ttA/ttG	0	1	1	UPI00001351F3	0		ENST00000274376		ENSG00000145715	9871		61			HGNC	p.L765L		RASA1		SNV			1				ENST00000512763	protein_coding			Gene3D:1.10.506.10,Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350		L		G		3360/3752				B4DTL8_HUMAN			YES	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,;RASA1,3_prime_UTR_variant,,ENST00000515800,;							LOW	2796/3144		RASA1_HUMAN			Transcript			.	ENSP00000274376		CCDS34200.1			1	
CNOT10	0	LGGM	GRCh37	3	32800994	32800994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	348	11	.	.	ENST00000454516.2:c.1820G>A	p.Gly607Asp	p.G607D	ENST00000454516	NM_001256742.1	607	gGt/gAt	0	1		UPI000006DA16	0	NA	ENST00000328834		ENSG00000182973	23817		359	1.97		HGNC	p.G547D		CNOT10		SNV							ENST00000328834	protein_coding	getma.org/?cm=var&var=hg19,3,32800994,G,A&fts=all		hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979,Superfamily_domains:SSF48452		G/D		A	medium	1956/2815		getma.org/?cm=msa&ty=f&p=CNOTA_HUMAN&rb=527&re=643&var=G547D	deleterious(0.02)	B7Z5B3_HUMAN				CNOT10,missense_variant,p.Gly547Asp,ENST00000328834,NM_015442.2;CNOT10,missense_variant,p.Gly607Asp,ENST00000454516,NM_001256742.1;CNOT10,missense_variant,p.Gly520Asp,ENST00000331889,NM_001256741.1;CNOT10,missense_variant,p.Gly319Asp,ENST00000538368,;CNOT10,missense_variant,p.Gly94Asp,ENST00000430408,;CNOT10,non_coding_transcript_exon_variant,,ENST00000471003,;CNOT10,missense_variant,p.Gly466Asp,ENST00000435630,;CNOT10,3_prime_UTR_variant,,ENST00000416457,;CNOT10,upstream_gene_variant,,ENST00000468599,;CNOT10,upstream_gene_variant,,ENST00000481526,;CNOT10,upstream_gene_variant,,ENST00000479397,;							MODERATE	1640/2235	G547D	CNO10_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000330060		CCDS2655.1			1	
HTR3E	0	LGGM	GRCh37	3	183824045	183824045	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	22	11	.	.	ENST00000440596.2:c.1133T>A	p.Leu378His	p.L378H	ENST00000440596	NM_001256614.1	378	cTc/cAc	0	1		UPI000156575F	0	NA	ENST00000415389		ENSG00000186038	24005		33	3.365		HGNC	p.L367H		HTR3E		SNV							ENST00000335304	protein_coding	getma.org/?cm=var&var=hg19,3,183824045,T,A&fts=all		hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112		L/H		A	medium	1521/2139		getma.org/?cm=msa&ty=f&p=5HT3E_HUMAN&rb=254&re=454&var=L352H	deleterious(0.04)	C9J420_HUMAN				HTR3E,missense_variant,p.Leu352His,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,missense_variant,p.Leu367His,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,missense_variant,p.Leu378His,ENST00000440596,NM_001256614.1;HTR3E,missense_variant,p.Leu352His,ENST00000436361,;HTR3E,missense_variant,p.Leu337His,ENST00000425359,;HTR3E,downstream_gene_variant,,ENST00000431041,;HTR3E-AS1,upstream_gene_variant,,ENST00000431427,;							MODERATE	1055/1371	L352H	5HT3E_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000401444		CCDS58868.1			1	
BCL2L11	0	LGGM	GRCh37	2	111907633	111907633	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	22	11	.	.	ENST00000393256.3:c.407A>T	p.Gln136Leu	p.Q136L	ENST00000393256	NM_006538.4	136	cAg/cTg	0	1	1	UPI0000033ABA	0	NA	ENST00000393256		ENSG00000153094	994		33	0.805		HGNC	p.Q76L		BCL2L11		SNV							ENST00000308659	protein_coding	getma.org/?cm=var&var=hg19,2,111907633,A,T&fts=all		hmmpanther:PTHR12044,Pfam_domain:PF08945,PIRSF_domain:PIRSF037827		Q/L		T	low	680/5086		getma.org/?cm=msa&ty=f&p=B2L11_HUMAN&rb=131&re=167&var=Q136L	tolerated(0.06)	E9PAM9_HUMAN,C9J417_HUMAN			YES	BCL2L11,missense_variant,p.Gln136Leu,ENST00000393256,NM_006538.4,NM_001204106.1,NM_138621.4,NM_138627.3;BCL2L11,missense_variant,p.Gln76Leu,ENST00000308659,;BCL2L11,missense_variant,p.Gln136Leu,ENST00000357757,;BCL2L11,missense_variant,p.Gln46Leu,ENST00000393253,;BCL2L11,downstream_gene_variant,,ENST00000438054,NM_001204113.1;BCL2L11,missense_variant,p.Gln76Leu,ENST00000433098,;BCL2L11,missense_variant,p.Gln46Leu,ENST00000439718,;BCL2L11,missense_variant,p.Gln136Leu,ENST00000437029,;BCL2L11,missense_variant,p.Gln46Leu,ENST00000452231,NM_001204110.1;BCL2L11,3_prime_UTR_variant,,ENST00000431217,NM_138624.3;BCL2L11,3_prime_UTR_variant,,ENST00000361493,;BCL2L11,intron_variant,,ENST00000436733,NM_001204109.1;BCL2L11,intron_variant,,ENST00000415458,NM_001204112.1;							MODERATE	407/597	Q136L	B2L11_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000376943		CCDS2089.1			1	
LYSMD2	0	LGGM	GRCh37	15	52017320	52017320	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	25	12	.	.	ENST00000267838.3:c.274-2A>T		p.X92_splice	ENST00000267838	NM_153374.2			0	1	1	UPI000007469F	0		ENST00000267838		ENSG00000140280	28571		37			HGNC	-		LYSMD2		SNV							ENST00000267838	protein_coding							A		-/1759							YES	LYSMD2,splice_acceptor_variant,,ENST00000267838,NM_153374.2;LYSMD2,splice_acceptor_variant,,ENST00000454181,NM_001143917.1;LYSMD2,splice_acceptor_variant,,ENST00000560491,;LYSMD2,intron_variant,,ENST00000558126,;SCG3,downstream_gene_variant,,ENST00000220478,NM_013243.3;							HIGH	274/648		LYSM2_HUMAN			Transcript			.	ENSP00000267838		CCDS10143.1			1	
NBAS	0	LGGM	GRCh37	2	15615962	15615962	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	37	12	.	.	ENST00000281513.5:c.1190C>T	p.Ala397Val	p.A397V	ENST00000281513	NM_015909.3	397	gCa/gTa	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		49	1.1		HGNC	p.A397V		NBAS		SNV			1				ENST00000281513	protein_coding	getma.org/?cm=var&var=hg19,2,15615962,G,A&fts=all		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		A/V		A	low	1216/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=201&re=400&var=A397V	tolerated(0.05)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.Ala397Val,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Ala397Val,ENST00000441750,;NBAS,downstream_gene_variant,,ENST00000427792,;							MODERATE	1190/7116	A397V	NBAS_HUMAN			Transcript		benign(0.008)	.	ENSP00000281513		CCDS1685.1			1	
LIN28B	0	LGGM	GRCh37	6	105526294	105526294	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	42	12	.	.	ENST00000345080.4:c.389A>G	p.Tyr130Cys	p.Y130C	ENST00000345080	NM_001004317.3	130	tAc/tGc	0	1	1	UPI000035E7BD	0	getma.org/pdb.php?prot=LN28B_HUMAN&from=127&to=143&var=Y130C	ENST00000345080		ENSG00000187772	32207		54	2.845		HGNC	p.Y130C		LIN28B		SNV			1				ENST00000345080	protein_coding	getma.org/?cm=var&var=hg19,6,105526294,A,G&fts=all		Gene3D:4.10.60.10,Pfam_domain:PF00098,PROSITE_profiles:PS50158,hmmpanther:PTHR11544,SMART_domains:SM00343,Superfamily_domains:SSF57756		Y/C		G	medium	592/5505		getma.org/?cm=msa&ty=f&p=LN28B_HUMAN&rb=107&re=163&var=Y130C	deleterious(0)	A7E2T3_HUMAN			YES	LIN28B,missense_variant,p.Tyr130Cys,ENST00000345080,NM_001004317.3;							MODERATE	389/753	Y130C	LN28B_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000344401		CCDS34504.1			1	
NKIRAS2	0	LGGM	GRCh37	17	40175767	40175767	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	17	12	.	.	ENST00000307641.5:c.432G>T	p.Val144=	p.V144=	ENST00000307641	NM_001001349.2	144	gtG/gtT	0	1	1	UPI00000465E5	0		ENST00000307641		ENSG00000168256	17898		29			HGNC	p.V144V		NKIRAS2		SNV							ENST00000393881	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF236,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		V		T		1053/2945				K7ERG2_HUMAN,K7ER26_HUMAN			YES	NKIRAS2,synonymous_variant,p.=,ENST00000307641,NM_001001349.2;NKIRAS2,synonymous_variant,p.=,ENST00000393884,;NKIRAS2,synonymous_variant,p.=,ENST00000393885,NM_017595.5,NM_001144927.1;NKIRAS2,synonymous_variant,p.=,ENST00000393880,;NKIRAS2,synonymous_variant,p.=,ENST00000393881,;NKIRAS2,synonymous_variant,p.=,ENST00000449471,NM_001144928.1;NKIRAS2,synonymous_variant,p.=,ENST00000316082,;NKIRAS2,synonymous_variant,p.=,ENST00000587337,;NKIRAS2,3_prime_UTR_variant,,ENST00000479407,NM_001144929.1;NKIRAS2,3_prime_UTR_variant,,ENST00000462043,;ZNF385C,downstream_gene_variant,,ENST00000436535,;DNAJC7,upstream_gene_variant,,ENST00000591787,;NKIRAS2,downstream_gene_variant,,ENST00000585955,;ZNF385C,downstream_gene_variant,,ENST00000461831,;NKIRAS2,3_prime_UTR_variant,,ENST00000491638,;NKIRAS2,3_prime_UTR_variant,,ENST00000485789,;NKIRAS2,non_coding_transcript_exon_variant,,ENST00000393879,;ZNF385C,downstream_gene_variant,,ENST00000496039,;NKIRAS2,downstream_gene_variant,,ENST00000587028,;							LOW	432/576		KBRS2_HUMAN			Transcript			.	ENSP00000303580		CCDS11415.1			1	
MKRN3	0	LGGM	GRCh37	15	23811887	23811887	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	19	12	.	.	ENST00000314520.3:c.958G>T	p.Glu320Ter	p.E320*	ENST00000314520	NM_005664.3	320	Gag/Tag	0	1	1	UPI000000DAA1	0	NA	ENST00000314520		ENSG00000179455	7114		31	0		HGNC	p.E320X		MKRN3		SNV			1				ENST00000314520	protein_coding	getma.org/?cm=var&var=hg19,15,23811887,G,T&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38,Pfam_domain:PF00097,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850		E/*		T	NA	1434/2711		NA					YES	MKRN3,stop_gained,p.Glu320Ter,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,intron_variant,,ENST00000568945,;MKRN3,intron_variant,,ENST00000570112,;							HIGH	958/1524	E320*	MKRN3_HUMAN			Transcript			.	ENSP00000313881		CCDS10013.1			1	
TPRA1	0	LGGM	GRCh37	3	127295862	127295862	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	15	12	.	.	ENST00000355552.3:c.316A>T	p.Thr106Ser	p.T106S	ENST00000355552	NM_001136053.2	106	Acc/Tcc	0	1	1	UPI00000373F2	0	NA	ENST00000355552		ENSG00000163870	30413		27	-0.46		HGNC	p.T106S		TPRA1		SNV							ENST00000490643	protein_coding	getma.org/?cm=var&var=hg19,3,127295862,T,A&fts=all		Pfam_domain:PF10160,hmmpanther:PTHR15876		T/S		A	neutral	693/1933		getma.org/?cm=msa&ty=f&p=TPRA1_HUMAN&rb=35&re=314&var=T106S	tolerated(0.11)	C9JZ00_HUMAN,C9JVW5_HUMAN,C9JU06_HUMAN,C9J5C7_HUMAN			YES	TPRA1,missense_variant,p.Thr106Ser,ENST00000355552,NM_001136053.2;TPRA1,missense_variant,p.Thr106Ser,ENST00000489960,;TPRA1,missense_variant,p.Thr106Ser,ENST00000450633,;TPRA1,missense_variant,p.Thr106Ser,ENST00000296210,NM_001142646.2;TPRA1,missense_variant,p.Thr106Ser,ENST00000469111,;TPRA1,missense_variant,p.Thr106Ser,ENST00000490290,;TPRA1,missense_variant,p.Thr106Ser,ENST00000490643,;TPRA1,downstream_gene_variant,,ENST00000462228,;TPRA1,upstream_gene_variant,,ENST00000465915,;TPRA1,missense_variant,p.Thr106Ser,ENST00000393400,;TPRA1,missense_variant,p.Thr106Ser,ENST00000483868,;							MODERATE	316/1122	T106S	TPRA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000347748		CCDS3042.1			1	
TLL2	0	LGGM	GRCh37	10	98192706	98192706	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	12	.	.	ENST00000357947.3:c.378T>A	p.Asn126Lys	p.N126K	ENST00000357947	NM_012465.3	126	aaT/aaA	0	1	1	UPI0000073AEE	0	NA	ENST00000357947		ENSG00000095587	11844		42	0.55		HGNC	p.N126K		TLL2		SNV							ENST00000357947	protein_coding	getma.org/?cm=var&var=hg19,10,98192706,A,T&fts=all		PIRSF_domain:PIRSF001199		N/K		T	neutral	604/6756		getma.org/?cm=msa&ty=f&p=TLL2_HUMAN&rb=1&re=130&var=N126K	tolerated(0.63)				YES	TLL2,missense_variant,p.Asn126Lys,ENST00000357947,NM_012465.3;TLL2,intron_variant,,ENST00000469598,;							MODERATE	378/3048	N126K	TLL2_HUMAN			Transcript		benign(0.001)	.	ENSP00000350630		CCDS7449.1			1	
DNAH7	0	LGGM	GRCh37	2	196791158	196791158	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	25	12	.	.	ENST00000312428.6:c.3604G>A	p.Gly1202Arg	p.G1202R	ENST00000312428	NM_018897.2	1202	Ggg/Agg	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=1168&to=1289&var=G1202R	ENST00000312428		ENSG00000118997	18661		37	2.855		HGNC	p.G1202R		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196791158,C,T&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676		G/R		T	medium	3705/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1168&re=1289&var=G1202R	deleterious(0.05)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Gly1202Arg,ENST00000312428,NM_018897.2;							MODERATE	3604/12075	G1202R	DYH7_HUMAN			Transcript		benign(0.052)	.	ENSP00000311273		CCDS42794.1			1	
PEX16	0	LGGM	GRCh37	11	45931853	45931853	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	22	12	.	.	ENST00000241041.3:c.953-125G>C		*318*	ENST00000241041	NM_057174.2			0	1		UPI000013DB6F	0	NA	ENST00000378750		ENSG00000121680	8857		34	0.905		HGNC	p.M321I		PEX16		SNV			1				ENST00000378750	protein_coding	getma.org/?cm=var&var=hg19,11,45931853,C,G&fts=all		hmmpanther:PTHR13299:SF0,hmmpanther:PTHR13299,Pfam_domain:PF08610		M/I		G	low	1207/1335		getma.org/?cm=msa&ty=f&p=PEX16_HUMAN&rb=9&re=330&var=M321I	tolerated(0.19)	E9PP98_HUMAN,E9PLS4_HUMAN				PEX16,missense_variant,p.Met226Ile,ENST00000532681,;PEX16,missense_variant,p.Met321Ile,ENST00000378750,;PEX16,intron_variant,,ENST00000241041,NM_057174.2,NM_004813.2;MAPK8IP1,downstream_gene_variant,,ENST00000395629,;MAPK8IP1,downstream_gene_variant,,ENST00000241014,NM_005456.3;PEX16,downstream_gene_variant,,ENST00000525192,;PEX16,downstream_gene_variant,,ENST00000533151,;C11orf94,upstream_gene_variant,,ENST00000449465,NM_001080446.2;RP11-618K13.2,upstream_gene_variant,,ENST00000533218,;PEX16,non_coding_transcript_exon_variant,,ENST00000523721,;PEX16,downstream_gene_variant,,ENST00000532554,;PEX16,downstream_gene_variant,,ENST00000527371,;							MODERATE	963/1011	M321I	PEX16_HUMAN			Transcript		benign(0.085)	.	ENSP00000368024		CCDS31472.1			1	
TCOF1	0	LGGM	GRCh37	5	149751741	149751741	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	17	12	.	.	ENST00000504761.2:c.812A>T	p.Glu271Val	p.E271V	ENST00000504761		271	gAg/gTg	0	1		UPI000020CF90	0	NA	ENST00000377797		ENSG00000070814	11654		29	2.44		HGNC	p.E271V		TCOF1		SNV			1				ENST00000394269	protein_coding	getma.org/?cm=var&var=hg19,5,149751741,A,T&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF03546,hmmpanther:PTHR20787		E/V		T	medium	920/5098		getma.org/?cm=msa&ty=f&p=TCOF_HUMAN&rb=249&re=324&var=E271V		Q9UFD4_HUMAN				TCOF1,missense_variant,p.Glu271Val,ENST00000451292,;TCOF1,missense_variant,p.Glu271Val,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Glu271Val,ENST00000513346,;TCOF1,missense_variant,p.Glu271Val,ENST00000439160,NM_001135244.1,NM_001195141.1;TCOF1,missense_variant,p.Glu271Val,ENST00000504761,;TCOF1,missense_variant,p.Glu271Val,ENST00000427724,;TCOF1,missense_variant,p.Glu271Val,ENST00000394269,NM_001008657.2;TCOF1,intron_variant,,ENST00000323668,NM_000356.3;TCOF1,intron_variant,,ENST00000445265,NM_001135245.1;TCOF1,intron_variant,,ENST00000515516,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,upstream_gene_variant,,ENST00000514442,;							MODERATE	812/4470	E271V	TCOF_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000367028					1	
IKZF2	0	LGGM	GRCh37	2	214013353	214013353	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	28	12	.	.	ENST00000457361.1:c.1A>T	p.Met1?	p.M1?	ENST00000457361	NM_016260.2	1	Atg/Ttg	0	1		UPI000013D4DA	0	NA	ENST00000434687		ENSG00000030419	13177		40	0		HGNC	p.M7L		IKZF2		SNV							ENST00000342002	protein_coding	getma.org/?cm=var&var=hg19,2,214013353,T,A&fts=all		hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404		M/L		A	NA	311/3888		http://getma.org/?cm=msa&ty=f&p=IKZF2_HUMAN&rb=1&re=125&var=M1L	deleterious(0)	Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN				IKZF2,start_lost,p.Met1?,ENST00000457361,NM_016260.2;IKZF2,start_lost,p.Met1?,ENST00000434687,;IKZF2,start_lost,p.Met1?,ENST00000374319,NM_001079526.1;IKZF2,start_lost,p.Met1?,ENST00000413091,;IKZF2,start_lost,p.Met1?,ENST00000451136,;IKZF2,start_lost,p.Met1?,ENST00000421754,;IKZF2,start_lost,p.Met1?,ENST00000374327,;IKZF2,start_lost,p.Met1?,ENST00000452786,;IKZF2,missense_variant,p.Met7Leu,ENST00000342002,;IKZF2,missense_variant,p.Met7Leu,ENST00000433134,;IKZF2,missense_variant,p.Met7Leu,ENST00000442445,;RP11-105N14.1,upstream_gene_variant,,ENST00000604818,;IKZF2,start_lost,p.Met1?,ENST00000431520,;IKZF2,start_lost,p.Met1?,ENST00000439848,;IKZF2,start_lost,p.Met1?,ENST00000412444,;IKZF2,start_lost,p.Met1?,ENST00000453575,;IKZF2,start_lost,p.Met1?,ENST00000374326,;							HIGH	1/1581	M1L	IKZF2_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000412869		CCDS2395.1			1	
SAMM50	0	LGGM	GRCh37	22	44369182	44369182	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	13	.	.	ENST00000350028.4:c.627A>T	p.Arg209Ser	p.R209S	ENST00000350028	NM_015380.4	209	agA/agT	0	1	1	UPI000016A33D	0	NA	ENST00000350028		ENSG00000100347	24276		24	2.61		HGNC	p.R209S		SAMM50		SNV							ENST00000350028	protein_coding	getma.org/?cm=var&var=hg19,22,44369182,A,T&fts=all		Gene3D:2qdzA01,Pfam_domain:PF01103,hmmpanther:PTHR12815		R/S		T	medium	784/1717		getma.org/?cm=msa&ty=f&p=SAM50_HUMAN&rb=151&re=468&var=R209S	deleterious(0)	A8MZI2_HUMAN			YES	SAMM50,missense_variant,p.Arg209Ser,ENST00000350028,NM_015380.4;SAMM50,5_prime_UTR_variant,,ENST00000396202,;SAMM50,non_coding_transcript_exon_variant,,ENST00000493161,;SAMM50,upstream_gene_variant,,ENST00000474323,;							MODERATE	627/1410	R209S	SAM50_HUMAN			Transcript		benign(0.142)	.	ENSP00000345445		CCDS14055.1			1	
RFWD3	0	LGGM	GRCh37	16	74670427	74670427	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	26	13	.	.	ENST00000361070.4:c.1243A>T	p.Arg415Trp	p.R415W	ENST00000361070	NM_018124.3	415	Agg/Tgg	0	1	1	UPI0000366B66	0	NA	ENST00000361070		ENSG00000168411	25539		39	1.5		HGNC	p.R415W		RFWD3		SNV							ENST00000571750	protein_coding	getma.org/?cm=var&var=hg19,16,74670427,T,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR16047:SF7,hmmpanther:PTHR16047		R/W		A	low	1341/4957		getma.org/?cm=msa&ty=f&p=RFWD3_HUMAN&rb=334&re=487&var=R415W	deleterious(0.02)	I3L4I5_HUMAN,I3L2T2_HUMAN,I3L299_HUMAN,I3L284_HUMAN			YES	RFWD3,missense_variant,p.Arg415Trp,ENST00000361070,NM_018124.3;RFWD3,missense_variant,p.Arg415Trp,ENST00000571750,;RFWD3,upstream_gene_variant,,ENST00000575154,;RFWD3,downstream_gene_variant,,ENST00000575281,;							MODERATE	1243/2325	R415W	RFWD3_HUMAN			Transcript		possibly_damaging(0.571)	.	ENSP00000354361		CCDS32486.1			1	
ADCY9	0	LGGM	GRCh37	16	4164617	4164617	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	11	13	.	.	ENST00000294016.3:c.827C>T	p.Ala276Val	p.A276V	ENST00000294016	NM_001116.3	276	gCc/gTc	0	1	1	UPI000012887F	0	NA	ENST00000294016		ENSG00000162104	240		24	1.39		HGNC	p.A276V		ADCY9		SNV							ENST00000294016	protein_coding	getma.org/?cm=var&var=hg19,16,4164617,G,A&fts=all		hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920		A/V		A	low	1366/7725		getma.org/?cm=msa&ty=f&p=ADCY9_HUMAN&rb=126&re=325&var=A276V	tolerated(0.2)				YES	ADCY9,missense_variant,p.Ala276Val,ENST00000294016,NM_001116.3;ADCY9,upstream_gene_variant,,ENST00000572288,;ADCY9,upstream_gene_variant,,ENST00000571467,;							MODERATE	827/4062	A276V	ADCY9_HUMAN			Transcript		benign(0.001)	.	ENSP00000294016		CCDS32382.1			1	
MAFB	0	LGGM	GRCh37	20	39317391	39317391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	19	13	.	.	ENST00000373313.2:c.100G>A	p.Glu34Lys	p.E34K	ENST00000373313	NM_005461.4	34	Gag/Aag	0	1	1	UPI000012EB1D	0	NA	ENST00000373313		ENSG00000204103	6408		32	2.79		HGNC	p.E34K		MAFB		SNV			1				ENST00000396967	protein_coding	getma.org/?cm=var&var=hg19,20,39317391,C,T&fts=all		hmmpanther:PTHR10129,hmmpanther:PTHR10129:SF10		E/K		T	medium	490/3393		getma.org/?cm=msa&ty=f&p=MAFB_HUMAN&rb=1&re=79&var=E34K	deleterious(0)				YES	MAFB,missense_variant,p.Glu34Lys,ENST00000373313,NM_005461.4;MAFB,missense_variant,p.Glu34Lys,ENST00000396967,;							MODERATE	100/972	E34K	MAFB_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000362410		CCDS13311.1			1	
PEX12	0	LGGM	GRCh37	17	33902990	33902990	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	13	.	.	ENST00000225873.4:c.891A>G	p.Leu297=	p.L297=	ENST00000225873	NM_000286.2	297	ttA/ttG	0	1	1	UPI0000131703	0		ENST00000225873		ENSG00000108733	8854		53			HGNC	p.L297L		PEX12		SNV			1				ENST00000225873	protein_coding			hmmpanther:PTHR12888:SF0,hmmpanther:PTHR12888,PIRSF_domain:PIRSF038074		L		C		1499/2675				K7ELY8_HUMAN			YES	PEX12,synonymous_variant,p.=,ENST00000225873,NM_000286.2;PEX12,downstream_gene_variant,,ENST00000585380,;AP2B1,upstream_gene_variant,,ENST00000589774,;RP11-1094M14.11,downstream_gene_variant,,ENST00000592381,;SNORD7,downstream_gene_variant,,ENST00000384567,NR_003037.1;PEX12,synonymous_variant,p.=,ENST00000586663,;							LOW	891/1080		PEX12_HUMAN			Transcript			.	ENSP00000225873		CCDS11296.1			1	
SMARCA4	0	LGGM	GRCh37	19	11169531	11169531	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	20	13	.	.	ENST00000344626.4:c.4601A>G	p.Gln1534Arg	p.Q1534R	ENST00000344626	NM_003072.3	1534	cAg/cGg	0	1		UPI000006F973	0	getma.org/pdb.php?prot=SMCA4_HUMAN&from=1462&to=1551&var=Q1534R	ENST00000344626		ENSG00000127616	11100		33	0.055		HGNC	p.Q1503R		SMARCA4		SNV			1				ENST00000450717	protein_coding	getma.org/?cm=var&var=hg19,19,11169531,A,G&fts=all		Gene3D:1.20.920.10,Pfam_domain:PF00439,Prints_domain:PR00503,PROSITE_patterns:PS00633,PROSITE_profiles:PS50014,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,SMART_domains:SM00297,Superfamily_domains:SSF47370		Q/R		G	neutral	4806/5392		getma.org/?cm=msa&ty=f&p=SMCA4_HUMAN&rb=1462&re=1551&var=Q1534R		B4DSI8_HUMAN,A7E2E1_HUMAN				SMARCA4,missense_variant,p.Gln1566Arg,ENST00000358026,NM_001128849.1;SMARCA4,missense_variant,p.Gln1534Arg,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Gln1534Arg,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Gln1504Arg,ENST00000413806,NM_001128845.1,NM_001128847.1;SMARCA4,missense_variant,p.Gln1503Arg,ENST00000450717,NM_001128846.1,NM_001128848.1;SMARCA4,missense_variant,p.Gln1501Arg,ENST00000590574,;SMARCA4,missense_variant,p.Gln1503Arg,ENST00000589677,;SMARCA4,missense_variant,p.Gln1504Arg,ENST00000541122,;SMARCA4,missense_variant,p.Gln1500Arg,ENST00000444061,;SMARCA4,missense_variant,p.Gln8Arg,ENST00000586985,;SMARCA4,upstream_gene_variant,,ENST00000586921,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;							MODERATE	4601/4944	Q1534R	SMCA4_HUMAN			Transcript		possibly_damaging(0.65)	.	ENSP00000343896		CCDS12253.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81593408	81593408	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	27	13	.	.	ENST00000356860.3:c.2744T>C	p.Ile915Thr	p.I915T	ENST00000356860	NM_000722.2	915	aTa/aCa	0	1		UPI0001B9E74B	0	NA	ENST00000356253		ENSG00000153956	1399		40	2.08		HGNC	p.I927T		CACNA2D1		SNV			1				ENST00000356253	protein_coding	getma.org/?cm=var&var=hg19,7,81593408,A,G&fts=all		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6		I/T		G	medium	3036/3858		getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=854&re=1053&var=I927T	deleterious(0.04)	Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,missense_variant,p.Ile915Thr,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Ile927Thr,ENST00000356253,;CACNA2D1,missense_variant,p.Ile127Thr,ENST00000535308,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;CACNA2D1,downstream_gene_variant,,ENST00000486539,;							MODERATE	2780/3312	I927T	CA2D1_HUMAN			Transcript		benign(0.119)	.	ENSP00000348589					1	
MAP3K10	0	LGGM	GRCh37	19	40711150	40711150	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	25	13	.	.	ENST00000253055.3:c.1135G>T	p.Asp379Tyr	p.D379Y	ENST00000253055	NM_002446.3	379	Gac/Tac	0	1	1	UPI000013CDAC	0	NA	ENST00000253055		ENSG00000130758	6849		38	2.24		HGNC	p.D379Y		MAP3K10		SNV							ENST00000253055	protein_coding	getma.org/?cm=var&var=hg19,19,40711150,G,T&fts=all		PIRSF_domain:PIRSF000556,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370		D/Y		T	medium	1423/3436		getma.org/?cm=msa&ty=f&p=M3K10_HUMAN&rb=378&re=951&var=D379Y	deleterious(0)				YES	MAP3K10,missense_variant,p.Asp379Tyr,ENST00000253055,NM_002446.3;AC118344.1,downstream_gene_variant,,ENST00000408124,;MAP3K10,downstream_gene_variant,,ENST00000593906,;MAP3K10,missense_variant,p.Asp129Tyr,ENST00000597986,;MAP3K10,missense_variant,p.Asp71Tyr,ENST00000593502,;MAP3K10,3_prime_UTR_variant,,ENST00000594951,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000601702,;MAP3K10,upstream_gene_variant,,ENST00000594791,;MAP3K10,upstream_gene_variant,,ENST00000594569,;							MODERATE	1135/2865	D379Y	M3K10_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000253055		CCDS12549.1			1	
NLGN4X	0	LGGM	GRCh37	X	5821413	5821413	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	2	13	.	.	ENST00000381095.3:c.1306C>T	p.Arg436Trp	p.R436W	ENST00000381095	NM_181332.1	436	Cgg/Tgg	0	1		UPI0000072EC5	0	getma.org/pdb.php?prot=NLGNX_HUMAN&from=22&to=590&var=R436W	ENST00000275857		ENSG00000146938	14287		15	2.135		HGNC	p.R436W	rs760432673	NLGN4X		SNV			1				ENST00000538097	protein_coding	getma.org/?cm=var&var=hg19,X,5821413,G,A&fts=all		Prints_domain:PR01090,Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559		R/W		A	medium	1770/5454		getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=22&re=590&var=R436W	deleterious(0)	B3KMT6_HUMAN				NLGN4X,missense_variant,p.Arg436Trp,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Arg456Trp,ENST00000381093,;NLGN4X,missense_variant,p.Arg436Trp,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Arg436Trp,ENST00000381092,;NLGN4X,missense_variant,p.Arg436Trp,ENST00000538097,;NLGN4X,upstream_gene_variant,,ENST00000477079,;							MODERATE	1306/2451	R436W	NLGNX_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000275857	8.24E-06	CCDS14126.1			1	
TP53TG5	0	LGGM	GRCh37	20	44006196	44006196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	21	13	.	.	ENST00000372726.3:c.106C>T	p.Arg36Trp	p.R36W	ENST00000372726	NM_014477.2	36	Cgg/Tgg	0	1	1	UPI000000165C	0	NA	ENST00000372726		ENSG00000124251	15856		34	1.385		HGNC	p.R36W	rs377271938	TP53TG5	0.000557	SNV	A:0						ENST00000372726	protein_coding	getma.org/?cm=var&var=hg19,20,44006196,G,A&fts=all		hmmpanther:PTHR15562,hmmpanther:PTHR15562:SF0,Pfam_domain:PF15331		R/W	A:0.0002	A	low	263/1051	1.52E-05	getma.org/?cm=msa&ty=f&p=T53G5_HUMAN&rb=1&re=289&var=R36W	deleterious(0.02)	G5EA57_HUMAN,B4DHX6_HUMAN			YES	TP53TG5,missense_variant,p.Arg36Trp,ENST00000372726,NM_014477.2;TP53TG5,missense_variant,p.Arg20Trp,ENST00000537995,;SYS1,downstream_gene_variant,,ENST00000426004,NM_001099791.2;TP53TG5,non_coding_transcript_exon_variant,,ENST00000494455,;TP53TG5,non_coding_transcript_exon_variant,,ENST00000488588,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;							MODERATE	106/873	R36W	T53G5_HUMAN			Transcript		probably_damaging(0.997)	common_variant	ENSP00000361811	8.24E-05	CCDS13352.1			1	
ZFX	0	LGGM	GRCh37	X	24197358	24197358	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	54	14	.	.	ENST00000379177.1:c.117T>G	p.Val39=	p.V39=	ENST00000379177	NM_003410.3	39	gtT/gtG	0	1		UPI000013C504	0		ENST00000304543		ENSG00000005889	12869		68			HGNC	p.V39V		ZFX		SNV							ENST00000379188	protein_coding			hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF208		V		G		371/2996				Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN				ZFX,synonymous_variant,p.=,ENST00000379177,NM_003410.3,NM_001178085.1;ZFX,synonymous_variant,p.=,ENST00000379188,NM_001178084.1,NM_001178095.1;ZFX,synonymous_variant,p.=,ENST00000304543,;ZFX,synonymous_variant,p.=,ENST00000540034,;ZFX,synonymous_variant,p.=,ENST00000338565,;ZFX,synonymous_variant,p.=,ENST00000428571,;ZFX,intron_variant,,ENST00000539115,NM_001178086.1;ZFX,downstream_gene_variant,,ENST00000419690,;ZFX,non_coding_transcript_exon_variant,,ENST00000474385,;ZFX,intron_variant,,ENST00000459724,;							LOW	117/2418		ZFX_HUMAN			Transcript			.	ENSP00000304985		CCDS14211.1			1	
MUC4	0	LGGM	GRCh37	3	195511231	195511231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	278	14	.	.	ENST00000463781.3:c.7220C>A	p.Ser2407Tyr	p.S2407Y	ENST00000463781	NM_018406.6	2407	tCc/tAc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		292	0.55		HGNC	p.S2407Y		MUC4		SNV							ENST00000480843	protein_coding	getma.org/?cm=var&var=hg19,3,195511231,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		S/Y		T	neutral	7680/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=S2407Y		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Ser2407Tyr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2407Tyr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2407Tyr,ENST00000478156,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000466475,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000477756,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000477086,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000480843,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000462323,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000470451,;MUC4,missense_variant,p.Ser2407Tyr,ENST00000479406,;							MODERATE	7220/16239	S2407Y				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
SBSN	0	LGGM	GRCh37	19	36017738	36017738	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	20	14	.	.	ENST00000452271.2:c.1446T>A	p.Thr482=	p.T482=	ENST00000452271	NM_001166034.1	482	acT/acA	0	1	1	UPI000059D6E7	0		ENST00000452271		ENSG00000189001	24950		34			HGNC	p.T482T		SBSN		SNV							ENST00000452271	protein_coding					T		T		1475/1945							YES	SBSN,synonymous_variant,p.=,ENST00000452271,NM_001166034.1;SBSN,synonymous_variant,p.=,ENST00000518157,NM_198538.3;SBSN,intron_variant,,ENST00000588674,NM_001166035.1;							LOW	1446/1773		SBSN_HUMAN			Transcript			.	ENSP00000430242		CCDS54253.1			1	
MAGEL2	0	LGGM	GRCh37	15	23889782	23889782	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	15	14	.	.	ENST00000532292.1:c.1299A>T	p.Gln433His	p.Q433H	ENST00000532292	NM_019066.4	433	caA/caT	0	1	1	UPI00005A89F6	0	getma.org/pdb.php?prot=MAGL2_HUMAN&from=307&to=477&var=Q316H	ENST00000532292		ENSG00000254585	6814		29	2.275		HGNC	p.Q433H		MAGEL2		SNV			1				ENST00000532292	protein_coding	getma.org/?cm=var&var=hg19,15,23889782,T,A&fts=all		Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838		Q/H		A	medium	1394/2485		getma.org/?cm=msa&ty=f&p=MAGL2_HUMAN&rb=307&re=477&var=Q316H	deleterious(0.01)	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN			YES	MAGEL2,missense_variant,p.Gln433His,ENST00000532292,NM_019066.4;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;							MODERATE	1299/1941	Q316H				Transcript		probably_damaging(0.923)	.	ENSP00000433433					1	
PKHD1	0	LGGM	GRCh37	6	51941124	51941124	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	23	14	.	.	ENST00000371117.3:c.398A>T	p.Lys133Met	p.K133M	ENST00000371117	NM_138694.3	133	aAg/aTg	0	1	1	UPI000013C4C0	0	NA	ENST00000371117		ENSG00000170927	9016		37	0.755		HGNC	p.K133M		PKHD1		SNV			1				ENST00000340994	protein_coding	getma.org/?cm=var&var=hg19,6,51941124,T,A&fts=all				K/M		A	neutral	674/16282		getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1&re=200&var=K133M	deleterious(0.03)				YES	PKHD1,missense_variant,p.Lys133Met,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Lys133Met,ENST00000340994,NM_170724.2;							MODERATE	398/12225	K133M	PKHD1_HUMAN			Transcript		possibly_damaging(0.789)	.	ENSP00000360158		CCDS4935.1			1	
ELP2	0	LGGM	GRCh37	18	33725942	33725942	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	133	15	.	.	ENST00000442325.2:c.1119A>G	p.Leu373=	p.L373=	ENST00000442325	NM_001242875.1	373	ttA/ttG	0	1		UPI00000730C7	0		ENST00000358232		ENSG00000134759	18248		148			HGNC	p.L282L	rs770952433	ELP2		SNV				9.67E-05			ENST00000351393	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR13729,hmmpanther:PTHR13729:SF2,SMART_domains:SM00320,Superfamily_domains:SSF50978		L		G		987/5849				F5GX79_HUMAN				ELP2,synonymous_variant,p.=,ENST00000358232,NM_018255.2;ELP2,synonymous_variant,p.=,ENST00000442325,NM_001242875.1;ELP2,synonymous_variant,p.=,ENST00000350494,NM_001242876.1;ELP2,synonymous_variant,p.=,ENST00000351393,NM_001242877.1;ELP2,synonymous_variant,p.=,ENST00000423854,NM_001242879.1;ELP2,synonymous_variant,p.=,ENST00000542824,NM_001242878.1;ELP2,downstream_gene_variant,,ENST00000543127,;ELP2,non_coding_transcript_exon_variant,,ENST00000535093,;ELP2,downstream_gene_variant,,ENST00000540730,;ELP2,downstream_gene_variant,,ENST00000543439,;ELP2,synonymous_variant,p.=,ENST00000539560,;ELP2,intron_variant,,ENST00000540799,;ELP2,downstream_gene_variant,,ENST00000536373,;ELP2,downstream_gene_variant,,ENST00000542430,;ELP2,downstream_gene_variant,,ENST00000540323,;ELP2,downstream_gene_variant,,ENST00000545632,;ELP2,downstream_gene_variant,,ENST00000544267,;							LOW	924/2481		ELP2_HUMAN			Transcript			.	ENSP00000350967	8.24E-06	CCDS11918.1			1	
ZBTB32	0	LGGM	GRCh37	19	36205752	36205752	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	16	15	.	.	ENST00000392197.2:c.224T>A	p.Leu75Gln	p.L75Q	ENST00000392197		75	cTg/cAg	0	1		UPI0000038C8C	0	getma.org/pdb.php?prot=ZBT32_HUMAN&from=21&to=113&var=L75Q	ENST00000262630		ENSG00000011590	16763		31	3.535		HGNC	p.L75Q		ZBTB32		SNV							ENST00000481182	protein_coding	getma.org/?cm=var&var=hg19,19,36205752,T,A&fts=all		Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR11389:SF456,hmmpanther:PTHR11389,PROSITE_profiles:PS50097		L/Q		A	high	434/1960		getma.org/?cm=msa&ty=f&p=ZBT32_HUMAN&rb=21&re=113&var=L75Q	deleterious(0)	K7EMJ1_HUMAN				ZBTB32,missense_variant,p.Leu75Gln,ENST00000392197,;ZBTB32,missense_variant,p.Leu75Gln,ENST00000262630,NM_014383.1;ZBTB32,intron_variant,,ENST00000426659,;KMT2B,upstream_gene_variant,,ENST00000420124,;KMT2B,upstream_gene_variant,,ENST00000222270,NM_014727.1;KMT2B,upstream_gene_variant,,ENST00000341701,;KMT2B,upstream_gene_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000442282,;ZBTB32,downstream_gene_variant,,ENST00000451726,;ZBTB32,missense_variant,p.Leu75Gln,ENST00000481182,;							MODERATE	224/1464	L75Q	ZBT32_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000262630		CCDS12471.1			1	
KIF13A	0	LGGM	GRCh37	6	17856274	17856274	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	33	15	.	.	ENST00000259711.6:c.300A>T	p.Ala100=	p.A100=	ENST00000259711	NM_022113.5	100	gcA/gcT	0	1	1	UPI0000E20DA3	0		ENST00000259711		ENSG00000137177	14566		48			HGNC	p.A100A		KIF13A		SNV							ENST00000259711	protein_coding			Prints_domain:PR00380,Superfamily_domains:SSF52540,SMART_domains:SM00129,Pfam_domain:PF00225,Gene3D:3.40.850.10,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115,PROSITE_profiles:PS50067		A		A		406/5941							YES	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,non_coding_transcript_exon_variant,,ENST00000507576,;							LOW	300/5418		KI13A_HUMAN			Transcript			.	ENSP00000259711		CCDS47381.1			1	
CCER1	0	LGGM	GRCh37	12	91348043	91348043	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	10	15	.	.	ENST00000358859.2:c.477G>A	p.Pro159=	p.P159=	ENST00000358859	NM_152638.2	159	ccG/ccA	0	1	1	UPI000006EE70	0		ENST00000358859		ENSG00000197651	28373		25			HGNC	p.P159P	COSM289992	CCER1		SNV						1	ENST00000358859	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF15482		P		T		911/2961							YES	CCER1,synonymous_variant,p.=,ENST00000358859,NM_152638.2;CCER1,intron_variant,,ENST00000548187,;CCER1,upstream_gene_variant,,ENST00000549707,;					1		LOW	477/1221		CCER1_HUMAN			Transcript			.	ENSP00000351727		CCDS9036.1			1	
RBBP6	0	LGGM	GRCh37	16	24580463	24580463	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	29	15	.	.	ENST00000319715.4:c.2452T>C	p.Phe818Leu	p.F818L	ENST00000319715	NM_006910.4	818	Ttt/Ctt	0	1	1	UPI00001A96B8	0	NA	ENST00000319715		ENSG00000122257	9889		44	0.55		HGNC	p.F818L		RBBP6		SNV							ENST00000319715	protein_coding	getma.org/?cm=var&var=hg19,16,24580463,T,C&fts=all		hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1		F/L		C	neutral	2884/6229		getma.org/?cm=msa&ty=f&p=RBBP6_HUMAN&rb=337&re=1269&var=F818L	tolerated_low_confidence(0.25)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN			YES	RBBP6,missense_variant,p.Phe818Leu,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Phe784Leu,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Phe685Leu,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;							MODERATE	2452/5379	F818L	RBBP6_HUMAN			Transcript		unknown(0)	.	ENSP00000317872		CCDS10621.1			1	
PDZRN3	0	LGGM	GRCh37	3	73434083	73434083	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	16	16	.	.	ENST00000263666.4:c.1636-2A>T		p.X546_splice	ENST00000263666	NM_015009.1			0	1	1	UPI00001C1DE6	0		ENST00000263666		ENSG00000121440	17704		32			HGNC	-		PDZRN3		SNV							ENST00000263666	protein_coding							A		-/4248				E7ENB6_HUMAN			YES	PDZRN3,splice_acceptor_variant,,ENST00000263666,NM_015009.1;PDZRN3,splice_acceptor_variant,,ENST00000462146,;PDZRN3,splice_acceptor_variant,,ENST00000535920,;PDZRN3,splice_acceptor_variant,,ENST00000479530,;PDZRN3,splice_acceptor_variant,,ENST00000466780,;PDZRN3,splice_acceptor_variant,,ENST00000494559,;PDZRN3,splice_acceptor_variant,,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,splice_acceptor_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;							HIGH	1636/3201		PZRN3_HUMAN			Transcript			.	ENSP00000263666		CCDS33789.1			1	
SSTR1	0	LGGM	GRCh37	14	38679118	38679118	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	21	16	.	.	ENST00000267377.2:c.524A>T	p.Lys175Met	p.K175M	ENST00000267377	NM_001049.2	175	aAg/aTg	0	1	1	UPI0000001C3C	0	getma.org/pdb.php?prot=SSR1_HUMAN&from=75&to=323&var=K175M	ENST00000267377		ENSG00000139874	11330		37	2.53		HGNC	p.K175M		SSTR1		SNV							ENST00000267377	protein_coding	getma.org/?cm=var&var=hg19,14,38679118,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF3,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		K/M		T	medium	1141/4295		getma.org/?cm=msa&ty=f&p=SSR1_HUMAN&rb=75&re=323&var=K175M	deleterious(0)				YES	SSTR1,missense_variant,p.Lys175Met,ENST00000267377,NM_001049.2;							MODERATE	524/1176	K175M	SSR1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000267377		CCDS9666.1			1	
RBM39	0	LGGM	GRCh37	20	34309757	34309757	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	41	16	.	.	ENST00000253363.6:c.730A>C	p.Lys244Gln	p.K244Q	ENST00000253363		244	Aag/Cag	0	1	1	UPI0000134418	0	getma.org/pdb.php?prot=RBM39_HUMAN&from=224&to=251&var=K244Q	ENST00000253363		ENSG00000131051	15923		57	1.145		HGNC	p.K87Q		RBM39		SNV							ENST00000407261	protein_coding	getma.org/?cm=var&var=hg19,20,34309757,T,G&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF301,TIGRFAM_domain:TIGR01622		K/Q		G	low	754/2488		getma.org/?cm=msa&ty=f&p=RBM39_HUMAN&rb=194&re=281&var=K244Q	deleterious(0.04)	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN			YES	RBM39,missense_variant,p.Lys244Gln,ENST00000361162,NM_184234.2,NM_004902.3;RBM39,missense_variant,p.Lys244Gln,ENST00000253363,;RBM39,missense_variant,p.Lys222Gln,ENST00000528062,NM_001242599.1,NM_001242600.1;RBM39,missense_variant,p.Lys87Gln,ENST00000407261,;RBM39,missense_variant,p.Lys117Gln,ENST00000448303,;RBM39,downstream_gene_variant,,ENST00000374038,;RBM39,downstream_gene_variant,,ENST00000434927,;RBM39,non_coding_transcript_exon_variant,,ENST00000494274,;RBM39,missense_variant,p.Lys244Gln,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000490484,;RBM39,downstream_gene_variant,,ENST00000412738,;RBM39,downstream_gene_variant,,ENST00000481037,;RBM39,downstream_gene_variant,,ENST00000425184,;							MODERATE	730/1593	K244Q	RBM39_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000253363		CCDS13266.1			1	
OBSCN	0	LGGM	GRCh37	1	228495960	228495960	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	9	16	.	.	ENST00000570156.2:c.15486A>G	p.Thr5162=	p.T5162=	ENST00000570156	NM_001271223.2	5162	acA/acG	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		25			HGNC	p.T4205T		OBSCN		SNV							ENST00000422127	protein_coding			hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		T		G		12659/24030								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,downstream_gene_variant,,ENST00000359599,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000602832,;							LOW	12615/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
FGF10	0	LGGM	GRCh37	5	44388460	44388460	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	44	16	.	.	ENST00000264664.4:c.325A>T	p.Ser109Cys	p.S109C	ENST00000264664	NM_004465.1	109	Agc/Tgc	0	1	1	UPI000004065F	0	getma.org/pdb.php?prot=FGF10_HUMAN&from=78&to=202&var=S109C	ENST00000264664		ENSG00000070193	3666		60	2.455		HGNC	p.S109C		FGF10		SNV			1				ENST00000264664	protein_coding	getma.org/?cm=var&var=hg19,5,44388460,T,A&fts=all		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF21,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353		S/C		A	medium	440/2193		getma.org/?cm=msa&ty=f&p=FGF10_HUMAN&rb=78&re=202&var=S109C	deleterious(0.05)	Q8NFI9_HUMAN,D6RG33_HUMAN,C7FDY0_HUMAN			YES	FGF10,missense_variant,p.Ser109Cys,ENST00000264664,NM_004465.1;FGF10,downstream_gene_variant,,ENST00000513107,;FGF10-AS1,upstream_gene_variant,,ENST00000502457,;							MODERATE	325/627	S109C	FGF10_HUMAN			Transcript		benign(0.414)	.	ENSP00000264664		CCDS3950.1			1	
IPO9	0	LGGM	GRCh37	1	201821268	201821268	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	22	17	.	.	ENST00000361565.4:c.551T>G	p.Leu184Arg	p.L184R	ENST00000361565	NM_018085.4	184	cTt/cGt	0	1	1	UPI000007304B	0	NA	ENST00000361565		ENSG00000198700	19425		39	0		HGNC	p.L184R		IPO9		SNV							ENST00000361565	protein_coding	getma.org/?cm=var&var=hg19,1,201821268,T,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Superfamily_domains:SSF48371		L/R		G	neutral	620/11435		getma.org/?cm=msa&ty=f&p=IPO9_HUMAN&rb=120&re=319&var=L184R	tolerated(0.11)				YES	IPO9,missense_variant,p.Leu184Arg,ENST00000361565,NM_018085.4;IPO9,non_coding_transcript_exon_variant,,ENST00000464348,;IPO9,downstream_gene_variant,,ENST00000479374,;							MODERATE	551/3126	L184R	IPO9_HUMAN			Transcript		benign(0.045)	.	ENSP00000354742		CCDS1415.1			1	
NLRP8	0	LGGM	GRCh37	19	56465900	56465900	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	34	17	.	.	ENST00000291971.3:c.476A>T	p.Glu159Val	p.E159V	ENST00000291971	NM_176811.2	159	gAa/gTa	0	1	1	UPI00001BB3C9	0	NA	ENST00000291971		ENSG00000179709	22940		51	0		HGNC	p.E159V		NLRP8		SNV							ENST00000291971	protein_coding	getma.org/?cm=var&var=hg19,19,56465900,A,T&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11		E/V		T	neutral	547/3934		getma.org/?cm=msa&ty=f&p=NALP8_HUMAN&rb=120&re=203&var=E159V	tolerated(0.14)				YES	NLRP8,missense_variant,p.Glu159Val,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Glu159Val,ENST00000590542,;							MODERATE	476/3147	E159V	NALP8_HUMAN			Transcript		benign(0.002)	.	ENSP00000291971		CCDS12937.1			1	
NLRP8	0	LGGM	GRCh37	19	56465899	56465899	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	33	17	.	.	ENST00000291971.3:c.475G>T	p.Glu159Ter	p.E159*	ENST00000291971	NM_176811.2	159	Gaa/Taa	0	1	1	UPI00001BB3C9	0	NA	ENST00000291971		ENSG00000179709	22940		50	0		HGNC	p.E159X		NLRP8		SNV							ENST00000291971	protein_coding	getma.org/?cm=var&var=hg19,19,56465899,G,T&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11		E/*		T	NA	546/3934		NA					YES	NLRP8,stop_gained,p.Glu159Ter,ENST00000291971,NM_176811.2;NLRP8,stop_gained,p.Glu159Ter,ENST00000590542,;							HIGH	475/3147	E159*	NALP8_HUMAN			Transcript			.	ENSP00000291971		CCDS12937.1			1	
FAM72A	0	LGGM	GRCh37	1	206145576	206145576	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	3	17	.	.	ENST00000367128.3:c.353C>T	p.Thr118Ile	p.T118I	ENST00000367128		118	aCa/aTa	0	1	1	UPI0000046C34	0	NA	ENST00000367128		ENSG00000196550	24044		20	1.845		HGNC	p.T118I		FAM72A		SNV							ENST00000367128	protein_coding	getma.org/?cm=var&var=hg19,1,206145576,C,T&fts=all		hmmpanther:PTHR31841,Pfam_domain:PF14976		T/I		T	low	1201/2398		getma.org/?cm=msa&ty=f&p=FA72A_HUMAN&rb=1&re=147&var=T118I	deleterious(0.03)	U3KPW2_HUMAN			YES	FAM72A,missense_variant,p.Thr118Ile,ENST00000367128,;FAM72A,missense_variant,p.Thr78Ile,ENST00000341209,NM_001123168.1;FAM72A,missense_variant,p.Thr89Ile,ENST00000431655,;FAM72A,missense_variant,p.Thr118Ile,ENST00000367129,;FAM72A,splice_region_variant,,ENST00000470041,;FAM72A,downstream_gene_variant,,ENST00000481737,;							MODERATE	353/450	T118I	FA72A_HUMAN			Transcript		benign(0.156)	.	ENSP00000356096		CCDS41458.1			1	
KIAA1377	0	LGGM	GRCh37	11	101818854	101818854	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	22	17	.	.	ENST00000263468.8:c.487A>T	p.Arg163Ter	p.R163*	ENST00000263468	NM_020802.2	163	Aga/Tga	0	1	1	UPI0000160A3D	0	NA	ENST00000263468		ENSG00000110318	29264		39	0		HGNC	p.R163X		KIAA1377		SNV			1				ENST00000263468	protein_coding	getma.org/?cm=var&var=hg19,11,101818854,A,T&fts=all		Pfam_domain:PF15352,hmmpanther:PTHR31191		R/*		T	NA	757/7039		NA		F5H5S1_HUMAN			YES	KIAA1377,stop_gained,p.Arg163Ter,ENST00000263468,NM_020802.2;KIAA1377,stop_gained,p.Arg44Ter,ENST00000532529,;							HIGH	487/3354	R163*	K1377_HUMAN			Transcript			.	ENSP00000263468		CCDS31658.1			1	
LHX4	0	LGGM	GRCh37	1	180217478	180217478	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	23	18	.	.	ENST00000263726.2:c.135C>A	p.Val45=	p.V45=	ENST00000263726	NM_033343.3	45	gtC/gtA	0	1	1	UPI000007340D	0		ENST00000263726		ENSG00000121454	21734		41			HGNC	p.V45V		LHX4		SNV			1				ENST00000263726	protein_coding			Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF15,SMART_domains:SM00132,Superfamily_domains:SSF57716		V		A		379/7083				Q96JP7_HUMAN,Q5RLJ3_HUMAN,Q5RLJ2_HUMAN,Q5RLJ1_HUMAN			YES	LHX4,synonymous_variant,p.=,ENST00000263726,NM_033343.3;LHX4,missense_variant,p.Pro21Thr,ENST00000561113,;LHX4,non_coding_transcript_exon_variant,,ENST00000558139,;							LOW	135/1173		LHX4_HUMAN			Transcript			.	ENSP00000263726		CCDS1338.1			1	
IRS1	0	LGGM	GRCh37	2	227660412	227660412	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	39	18	.	.	ENST00000305123.5:c.3043A>G	p.Met1015Val	p.M1015V	ENST00000305123	NM_005544.2	1015	Atg/Gtg	0	1	1	UPI000003BB52	0	NA	ENST00000305123		ENSG00000169047	6125		57	0.55		HGNC	p.M1015V	rs772844464	IRS1		SNV			1				ENST00000305123	protein_coding	getma.org/?cm=var&var=hg19,2,227660412,T,C&fts=all		hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614		M/V		C	neutral	4064/9705		getma.org/?cm=msa&ty=f&p=IRS1_HUMAN&rb=863&re=1062&var=M1015V	tolerated(0.06)				YES	IRS1,missense_variant,p.Met1015Val,ENST00000305123,NM_005544.2;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;	0.000116						MODERATE	3043/3729	M1015V	IRS1_HUMAN			Transcript		benign(0.004)	.	ENSP00000304895	8.24E-06	CCDS2463.1			1	
GRIN2A	0	LGGM	GRCh37	16	9858508	9858508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	56	18	.	.	ENST00000330684.3:c.2893A>G	p.Thr965Ala	p.T965A	ENST00000330684	NM_001134407.1	965	Aca/Gca	0	1		UPI000000D7AB	0	NA	ENST00000330684		ENSG00000183454	4585		74	1.67		HGNC	p.T965A		GRIN2A		SNV			1				ENST00000562109	protein_coding	getma.org/?cm=var&var=hg19,16,9858508,T,C&fts=all		Pfam_domain:PF10565		T/A		C	low	3441/5031		getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=T965A	tolerated(0.61)	Q547U9_HUMAN				GRIN2A,missense_variant,p.Thr965Ala,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Thr965Ala,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Thr965Ala,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Thr965Ala,ENST00000562109,;GRIN2A,missense_variant,p.Thr965Ala,ENST00000396575,;GRIN2A,missense_variant,p.Thr808Ala,ENST00000535259,;GRIN2A,downstream_gene_variant,,ENST00000463531,;GRIN2A,upstream_gene_variant,,ENST00000461292,;							MODERATE	2893/4395	T965A	NMDE1_HUMAN			Transcript		benign(0.068)	.	ENSP00000332549		CCDS10539.1			1	
PEBP4	0	LGGM	GRCh37	8	22777765	22777765	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	35	18	.	.	ENST00000256404.6:c.190T>A	p.Cys64Ser	p.C64S	ENST00000256404	NM_144962.2	64	Tgt/Agt	0	1	1	UPI0000037788	0	NA	ENST00000256404		ENSG00000134020	28319		53	1.905		HGNC	p.C64S		PEBP4		SNV							ENST00000256404	protein_coding	getma.org/?cm=var&var=hg19,8,22777765,A,T&fts=all		Gene3D:3.90.280.10,hmmpanther:PTHR11362,hmmpanther:PTHR11362:SF12,Superfamily_domains:SSF49777		C/S		T	medium	282/890		getma.org/?cm=msa&ty=f&p=PEBP4_HUMAN&rb=57&re=197&var=C64S	deleterious(0.01)				YES	PEBP4,missense_variant,p.Cys64Ser,ENST00000256404,NM_144962.2;PEBP4,non_coding_transcript_exon_variant,,ENST00000521284,;							MODERATE	190/684	C64S	PEBP4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000256404		CCDS43724.1			1	
BTBD8	0	LGGM	GRCh37	1	92647881	92647881	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	52	18	.	.	ENST00000370378.4:c.3327A>T	p.Arg1109Ser	p.R1109S	ENST00000370378	NM_015237.2	1109	agA/agT	0	1	1	UPI00017C1449	0	NA	ENST00000370378		ENSG00000069712	29192		70	0.35		HGNC	p.R1164S		KIAA1107		SNV							ENST00000409154	protein_coding	getma.org/?cm=var&var=hg19,1,92647881,A,T&fts=all		hmmpanther:PTHR22427		R/S		T	neutral	3425/4556		getma.org/?cm=msa&ty=f&p=K1107_HUMAN&rb=1087&re=1286&var=R1164S	tolerated(0.81)	E9PEZ5_HUMAN			YES	KIAA1107,missense_variant,p.Arg1164Ser,ENST00000409154,;KIAA1107,missense_variant,p.Arg1109Ser,ENST00000370378,NM_015237.2;							MODERATE	3327/4065	R1164S				Transcript		benign(0.046)	.	ENSP00000359404		CCDS44172.1			1	
FAM228B	0	LGGM	GRCh37	2	24360961	24360961	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	67	18	.	.	ENST00000420135.2:c.351A>T	p.Val117=	p.V117=	ENST00000420135		117	gtA/gtT	0	1	1	UPI0001AE7682	0		ENST00000420135		ENSG00000219626	24736		85			HGNC	p.V117V		FAM228B		SNV							ENST00000407625	protein_coding					V		T		437/1354				C9JGZ2_HUMAN			YES	FAM228B,synonymous_variant,p.=,ENST00000407625,NM_001145710.1;FAM228B,synonymous_variant,p.=,ENST00000420135,;FAM228B,intron_variant,,ENST00000468799,;FAM228B,intron_variant,,ENST00000486967,;RP11-507M3.1,intron_variant,,ENST00000584973,;FAM228B,intron_variant,,ENST00000417898,;							LOW	351/972					Transcript			.	ENSP00000389043					1	
WDR37	0	LGGM	GRCh37	10	1149628	1149628	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	16	18	.	.	ENST00000358220.1:c.813C>T	p.Arg271=	p.R271=	ENST00000358220		271	cgC/cgT	0	1		UPI000013D3B7	0		ENST00000263150		ENSG00000047056	31406		34			HGNC	p.R271R	rs767737606	WDR37		SNV							ENST00000263150	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19855,hmmpanther:PTHR19855:SF12,SMART_domains:SM00320,Superfamily_domains:SSF50978		R		T		964/4462	0.000121			A8K976_HUMAN				WDR37,synonymous_variant,p.=,ENST00000358220,;WDR37,synonymous_variant,p.=,ENST00000263150,NM_014023.3;							LOW	813/1485		WDR37_HUMAN			Transcript			.	ENSP00000263150	6.59E-05	CCDS7057.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73179421	73179421	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	8	19	.	.	ENST00000286657.4:c.1718T>A	p.Phe573Tyr	p.F573Y	ENST00000286657	NM_014243.2	573	tTc/tAc	0	1	1	UPI00001AEAEA	0	getma.org/pdb.php?prot=ATS3_HUMAN&from=553&to=605&var=F573Y	ENST00000286657		ENSG00000156140	219		27	0.48		HGNC	p.F573Y		ADAMTS3		SNV							ENST00000286657	protein_coding	getma.org/?cm=var&var=hg19,4,73179421,A,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857		F/Y		T	neutral	1755/5822		getma.org/?cm=msa&ty=f&p=ATS3_HUMAN&rb=553&re=605&var=F573Y	tolerated(0.22)	Q96AY5_HUMAN			YES	ADAMTS3,missense_variant,p.Phe573Tyr,ENST00000286657,NM_014243.2;ADAMTS3,upstream_gene_variant,,ENST00000511274,;							MODERATE	1718/3618	F573Y	ATS3_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000286657		CCDS3553.1			1	
SOHLH2	0	LGGM	GRCh37	13	36776201	36776201	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	35	19	.	.	ENST00000511166.1:c.309T>A	p.Asp103Glu	p.D103E	ENST00000511166	NM_001198910.1	103	gaT/gaA	0	1		UPI000006D052	0	NA	ENST00000379881		ENSG00000120669	26026		54	1.04		HGNC	p.D103E		SOHLH2		SNV							ENST00000554962	protein_coding	getma.org/?cm=var&var=hg19,13,36776201,A,T&fts=all		hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF16		D/E		T	low	167/2193		getma.org/?cm=msa&ty=f&p=SOLH2_HUMAN&rb=1&re=200&var=D26E	deleterious(0.01)					SOHLH2,missense_variant,p.Asp26Glu,ENST00000379881,NM_017826.2;CCDC169-SOHLH2,missense_variant,p.Asp103Glu,ENST00000511166,NM_001198910.1;SOHLH2,missense_variant,p.Asp103Glu,ENST00000554962,;SOHLH2,missense_variant,p.Asp26Glu,ENST00000317764,NM_001282147.1;							MODERATE	78/1278	D26E	SOLH2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000369210		CCDS9355.1			1	
PRKRIP1	0	LGGM	GRCh37	7	102047914	102047914	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	43	19	.	.	ENST00000496391.1:c.426G>A	p.Lys142=	p.K142=	ENST00000496391		142	aaG/aaA	0	1		UPI000003587A	0		ENST00000397912		ENSG00000128563	21894		62			HGNC	p.K142K		PRKRIP1		SNV							ENST00000397912	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06658,hmmpanther:PTHR13507,Low_complexity_(Seg):seg		K		A		475/2159								PRKRIP1,synonymous_variant,p.=,ENST00000496391,;PRKRIP1,synonymous_variant,p.=,ENST00000397912,NM_024653.3;PRKRIP1,synonymous_variant,p.=,ENST00000462601,;PRKRIP1,intron_variant,,ENST00000354783,;MIR548O,upstream_gene_variant,,ENST00000408583,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000482465,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000469763,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000482549,;PRKRIP1,downstream_gene_variant,,ENST00000477886,;PRKRIP1,non_coding_transcript_exon_variant,,ENST00000468316,;							LOW	426/555		PKRI1_HUMAN			Transcript			.	ENSP00000381010		CCDS34714.1			1	
CYP2R1	0	LGGM	GRCh37	11	14901921	14901921	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	31	19	.	.	ENST00000334636.5:c.761A>T	p.Tyr254Phe	p.Y254F	ENST00000334636	NM_024514.4	254	tAt/tTt	0	1	1	UPI000003F04B	0	getma.org/pdb.php?prot=CP2R1_HUMAN&from=40&to=498&var=Y254F	ENST00000334636		ENSG00000186104	20580		50	0.745		HGNC	p.Y254F		CYP2R1		SNV			1				ENST00000334636	protein_coding	getma.org/?cm=var&var=hg19,11,14901921,T,A&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF48,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		Y/F		A	neutral	808/1613		getma.org/?cm=msa&ty=f&p=CP2R1_HUMAN&rb=40&re=498&var=Y254F	deleterious(0.01)				YES	CYP2R1,missense_variant,p.Tyr254Phe,ENST00000334636,NM_024514.4;CYP2R1,intron_variant,,ENST00000532378,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000526489,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000526276,;CYP2R1,non_coding_transcript_exon_variant,,ENST00000532641,;CYP2R1,downstream_gene_variant,,ENST00000529043,;CYP2R1,splice_region_variant,,ENST00000532805,;CYP2R1,3_prime_UTR_variant,,ENST00000530609,;CYP2R1,3_prime_UTR_variant,,ENST00000534686,;CYP2R1,intron_variant,,ENST00000525015,;							MODERATE	761/1506	Y254F	CP2R1_HUMAN			Transcript		possibly_damaging(0.8)	.	ENSP00000334592		CCDS7818.1			1	
OSBPL7	0	LGGM	GRCh37	17	45891099	45891099	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	22	19	.	.	ENST00000007414.3:c.1453A>T	p.Asn485Tyr	p.N485Y	ENST00000007414	NM_145798.2	485	Aac/Tac	0	1	1	UPI0000130E98	0	NA	ENST00000007414		ENSG00000006025	16387		41	3.135		HGNC	p.N485Y		OSBPL7		SNV							ENST00000392507	protein_coding	getma.org/?cm=var&var=hg19,17,45891099,T,A&fts=all		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972:SF75,hmmpanther:PTHR10972		N/Y		A	medium	1645/3640		getma.org/?cm=msa&ty=f&p=OSBL7_HUMAN&rb=478&re=827&var=N485Y	deleterious(0)	J3QLK7_HUMAN			YES	OSBPL7,missense_variant,p.Asn485Tyr,ENST00000007414,NM_145798.2;OSBPL7,missense_variant,p.Asn485Tyr,ENST00000392507,;OSBPL7,3_prime_UTR_variant,,ENST00000579728,;OSBPL7,non_coding_transcript_exon_variant,,ENST00000583167,;OSBPL7,downstream_gene_variant,,ENST00000580140,;OSBPL7,downstream_gene_variant,,ENST00000584698,;OSBPL7,downstream_gene_variant,,ENST00000580808,;OSBPL7,upstream_gene_variant,,ENST00000578461,;							MODERATE	1453/2529	N485Y	OSBL7_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000007414		CCDS11515.1			1	
ACTR8	0	LGGM	GRCh37	3	53908331	53908331	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	19	.	.	ENST00000335754.3:c.972A>T	p.Arg324=	p.R324=	ENST00000335754	NM_022899.4	324	cgA/cgT	0	1	1	UPI000013C95B	0		ENST00000335754		ENSG00000113812	14672		59			HGNC	p.R324R		ACTR8		SNV							ENST00000335754	protein_coding			hmmpanther:PTHR11937:SF13,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067		R		A		1073/3629				C9J7L6_HUMAN			YES	ACTR8,synonymous_variant,p.=,ENST00000335754,NM_022899.4;ACTR8,synonymous_variant,p.=,ENST00000482349,;ACTR8,intron_variant,,ENST00000486794,;ACTR8,intron_variant,,ENST00000231909,;ACTR8,downstream_gene_variant,,ENST00000498740,;ACTR8,upstream_gene_variant,,ENST00000488802,;ACTR8,upstream_gene_variant,,ENST00000495993,;							LOW	972/1875		ARP8_HUMAN			Transcript			.	ENSP00000336842		CCDS2875.1			1	
ASF1B	0	LGGM	GRCh37	19	14237019	14237019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	19	.	.	ENST00000263382.3:c.140C>T	p.Ser47Leu	p.S47L	ENST00000263382	NM_018154.2	47	tCg/tTg	0	1	1	UPI00000437D4	0	getma.org/pdb.php?prot=ASF1B_HUMAN&from=1&to=154&var=S47L	ENST00000263382		ENSG00000105011	20996		64	3.73		HGNC	p.S47L		ASF1B		SNV							ENST00000263382	protein_coding	getma.org/?cm=var&var=hg19,19,14237019,G,A&fts=all		Gene3D:1rocA00,Pfam_domain:PF04729,hmmpanther:PTHR12040,hmmpanther:PTHR12040:SF2,Superfamily_domains:SSF101546		S/L		A	high	640/2059		getma.org/?cm=msa&ty=f&p=ASF1B_HUMAN&rb=1&re=154&var=S47L	deleterious(0)	B4DXU6_HUMAN			YES	ASF1B,missense_variant,p.Ser47Leu,ENST00000263382,NM_018154.2;ASF1B,missense_variant,p.Ser47Leu,ENST00000592798,;ASF1B,missense_variant,p.Ser47Leu,ENST00000474890,;ASF1B,missense_variant,p.Ser47Leu,ENST00000590835,;ASF1B,intron_variant,,ENST00000589468,;							MODERATE	140/609	S47L	ASF1B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263382		CCDS12306.1			1	
PLCZ1	0	LGGM	GRCh37	12	18876325	18876325	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	31	19	.	.	ENST00000266505.7:c.287T>A	p.Leu96Gln	p.L96Q	ENST00000266505		96	cTg/cAg	0	1	1	UPI000000D7E3	0	getma.org/pdb.php?prot=PLCZ1_HUMAN&from=72&to=154&var=L96Q	ENST00000266505		ENSG00000139151	19218		50	3.515		HGNC	p.L96Q		PLCZ1		SNV							ENST00000266505	protein_coding	getma.org/?cm=var&var=hg19,12,18876325,A,T&fts=all		hmmpanther:PTHR10336:SF29,hmmpanther:PTHR10336,Pfam_domain:PF09279,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		L/Q		T	high	551/2148		getma.org/?cm=msa&ty=f&p=PLCZ1_HUMAN&rb=72&re=154&var=L96Q	deleterious(0)	F5H828_HUMAN,F5H474_HUMAN,F5H3L4_HUMAN,F5H2Y6_HUMAN,F5GZK3_HUMAN			YES	PLCZ1,missense_variant,p.Leu94Gln,ENST00000447925,NM_033123.3;PLCZ1,missense_variant,p.Leu96Gln,ENST00000266505,;PLCZ1,5_prime_UTR_variant,,ENST00000541966,;PLCZ1,intron_variant,,ENST00000435379,;PLCZ1,intron_variant,,ENST00000539875,;PLCZ1,intron_variant,,ENST00000543242,;PLCZ1,intron_variant,,ENST00000539072,;PLCZ1,upstream_gene_variant,,ENST00000541695,;RP11-361I14.2,intron_variant,,ENST00000536931,;PLCZ1,intron_variant,,ENST00000545129,;PLCZ1,downstream_gene_variant,,ENST00000541109,;PLCZ1,3_prime_UTR_variant,,ENST00000318197,;PLCZ1,3_prime_UTR_variant,,ENST00000539207,;PLCZ1,intron_variant,,ENST00000535429,;PLCZ1,upstream_gene_variant,,ENST00000540270,;							MODERATE	287/1827	L96Q	PLCZ1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266505		CCDS8680.1			1	
ITLN2	0	LGGM	GRCh37	1	160917789	160917789	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	29	20	.	.	ENST00000368029.3:c.755T>A	p.Val252Glu	p.V252E	ENST00000368029	NM_080878.2	252	gTg/gAg	0	1	1	UPI0000048F3E	0	NA	ENST00000368029		ENSG00000158764	20599		49	2.99		HGNC	p.V252E		ITLN2		SNV							ENST00000368029	protein_coding	getma.org/?cm=var&var=hg19,1,160917789,A,T&fts=all		hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF21		V/E		T	medium	813/1151		getma.org/?cm=msa&ty=f&p=ITLN2_HUMAN&rb=44&re=267&var=V252E	deleterious(0)				YES	ITLN2,missense_variant,p.Val252Glu,ENST00000368029,NM_080878.2;RP11-544M22.1,intron_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000494442,;ITLN2,downstream_gene_variant,,ENST00000490489,;							MODERATE	755/978	V252E	ITLN2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000357008		CCDS1212.1			1	
KMT2A	0	LGGM	GRCh37	11	118352682	118352682	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	38	20	.	.	ENST00000534358.1:c.3887A>T	p.Lys1296Met	p.K1296M	ENST00000534358	NM_005933.3	1296	aAg/aTg	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		58	1.78		HGNC	p.K1296M		KMT2A		SNV			1				ENST00000354520	protein_coding	getma.org/?cm=var&var=hg19,11,118352682,A,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		K/M		T	low	3887/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1195&re=1394&var=K1296M		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Lys1296Met,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Lys1296Met,ENST00000354520,;KMT2A,missense_variant,p.Lys1296Met,ENST00000389506,;KMT2A,missense_variant,p.Lys1329Met,ENST00000531904,;KMT2A,missense_variant,p.Lys46Met,ENST00000392873,;KMT2A,downstream_gene_variant,,ENST00000533790,;KMT2A,upstream_gene_variant,,ENST00000420751,;							MODERATE	3887/11910	K1296M	KMT2A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000374157		CCDS31686.1			1	
COL6A6	0	LGGM	GRCh37	3	130293359	130293359	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	69	20	.	.	ENST00000358511.6:c.3537G>A	p.Ala1179=	p.A1179=	ENST00000358511	NM_001102608.1	1179	gcG/gcA	0	1	1	UPI00015B6548	0		ENST00000358511		ENSG00000206384	27023		89			HGNC	p.A1179A	rs550718614	COL6A6	0.000577	SNV				0.000113			ENST00000453409	protein_coding		A:0.0008	hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992		A		A		3568/9581					A:0	A:0	YES	COL6A6,synonymous_variant,p.=,ENST00000358511,NM_001102608.1;COL6A6,synonymous_variant,p.=,ENST00000453409,;		A:0.0002					LOW	3537/6792		CO6A6_HUMAN		A:0	Transcript			common_variant	ENSP00000351310	9.10E-05	CCDS46911.1	0.00115	A:0	1	
GLYAT	0	LGGM	GRCh37	11	58482875	58482875	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	35	20	.	.	ENST00000344743.3:c.103A>G	p.Ile35Val	p.I35V	ENST00000344743	NM_201648.2	35	Ata/Gta	0	1	1	UPI00003667C7	0	NA	ENST00000344743		ENSG00000149124	13734		55	1.16		HGNC	p.I35V	rs747164900	GLYAT		SNV							ENST00000344743	protein_coding	getma.org/?cm=var&var=hg19,11,58482875,T,C&fts=all		hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF5,Pfam_domain:PF06021		I/V		C	low	245/1735	1.51E-05	getma.org/?cm=msa&ty=f&p=GLYAT_HUMAN&rb=2&re=206&var=I35V	tolerated(0.11)				YES	GLYAT,missense_variant,p.Ile35Val,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Ile35Val,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Ile35Val,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,;							MODERATE	103/891	I35V	GLYAT_HUMAN			Transcript		benign(0.019)	.	ENSP00000340200	8.24E-06	CCDS7970.1			1	
FASTKD2	0	LGGM	GRCh37	2	207636934	207636934	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	20	.	.	ENST00000236980.6:c.1144A>G	p.Met382Val	p.M382V	ENST00000236980	NM_014929.3	382	Atg/Gtg	0	1	1	UPI0000073E9F	0	NA	ENST00000236980		ENSG00000118246	29160		50	0.895		HGNC	p.M382V		FASTKD2		SNV			1				ENST00000236980	protein_coding	getma.org/?cm=var&var=hg19,2,207636934,A,G&fts=all		hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228		M/V		G	low	1492/3188		getma.org/?cm=msa&ty=f&p=FAKD2_HUMAN&rb=201&re=400&var=M382V	deleterious(0)	C9JPI6_HUMAN			YES	FASTKD2,missense_variant,p.Met382Val,ENST00000236980,NM_014929.3;FASTKD2,missense_variant,p.Met382Val,ENST00000402774,NM_001136194.1,NM_001136193.1;FASTKD2,missense_variant,p.Met382Val,ENST00000403094,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;							MODERATE	1144/2133	M382V	FAKD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000236980		CCDS2371.1			1	
ACTR8	0	LGGM	GRCh37	3	53908332	53908332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	20	.	.	ENST00000335754.3:c.971G>T	p.Arg324Leu	p.R324L	ENST00000335754	NM_022899.4	324	cGa/cTa	0	1	1	UPI000013C95B	0	getma.org/pdb.php?prot=ARP8_HUMAN&from=43&to=621&var=R324L	ENST00000335754		ENSG00000113812	14672		60	2.34		HGNC	p.R324L		ACTR8		SNV							ENST00000335754	protein_coding	getma.org/?cm=var&var=hg19,3,53908332,C,A&fts=all		hmmpanther:PTHR11937:SF13,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067		R/L		A	medium	1072/3629		getma.org/?cm=msa&ty=f&p=ARP8_HUMAN&rb=43&re=621&var=R324L	deleterious(0.01)	C9J7L6_HUMAN			YES	ACTR8,missense_variant,p.Arg324Leu,ENST00000335754,NM_022899.4;ACTR8,missense_variant,p.Arg213Leu,ENST00000482349,;ACTR8,intron_variant,,ENST00000486794,;ACTR8,intron_variant,,ENST00000231909,;ACTR8,downstream_gene_variant,,ENST00000498740,;ACTR8,upstream_gene_variant,,ENST00000488802,;ACTR8,upstream_gene_variant,,ENST00000495993,;							MODERATE	971/1875	R324L	ARP8_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000336842		CCDS2875.1			1	
RIBC2	0	LGGM	GRCh37	22	45813685	45813685	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	32	21	.	.	ENST00000538017.1:c.400A>T	p.Thr134Ser	p.T134S	ENST00000538017	NM_015653.4	134	Acg/Tcg	0	1		UPI00000710B5	0		ENST00000342894		ENSG00000128408	13241		53			HGNC	p.T66S		RIBC2		SNV							ENST00000342894	protein_coding			Pfam_domain:PF05914,hmmpanther:PTHR14517,hmmpanther:PTHR14517:SF2		T/S		T		610/1478			tolerated(0.47)					RIBC2,missense_variant,p.Thr66Ser,ENST00000342894,;RIBC2,missense_variant,p.Thr134Ser,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,;							MODERATE	196/930		RIBC2_HUMAN			Transcript		benign(0.054)	.	ENSP00000342529					1	
ZNF506	0	LGGM	GRCh37	19	19905525	19905525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	42	21	.	.	ENST00000443905.2:c.1171C>T	p.His391Tyr	p.H391Y	ENST00000443905		391	Cat/Tat	0	1	1	UPI00001B6472	0	getma.org/pdb.php?prot=ZN506_HUMAN&from=383&to=408&var=H391Y	ENST00000443905		ENSG00000081665	23780		63	3.68		HGNC	p.H391Y		ZNF506		SNV							ENST00000443905	protein_coding	getma.org/?cm=var&var=hg19,19,19905525,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF82,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/Y		A	high	1319/2875		getma.org/?cm=msa&ty=f&p=ZN506_HUMAN&rb=363&re=428&var=H391Y	deleterious(0.01)	K7ERD0_HUMAN			YES	ZNF506,missense_variant,p.His391Tyr,ENST00000443905,;ZNF506,missense_variant,p.His391Tyr,ENST00000540806,;ZNF506,missense_variant,p.His359Tyr,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.His391Tyr,ENST00000591639,;ZNF506,intron_variant,,ENST00000586260,;ZNF506,downstream_gene_variant,,ENST00000587822,;							MODERATE	1171/1335	H391Y	ZN506_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000393835		CCDS42531.1			1	
PDZRN4	0	LGGM	GRCh37	12	41900340	41900340	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	38	21	.	.	ENST00000402685.2:c.926A>T	p.Gln309Leu	p.Q309L	ENST00000402685	NM_001164595.1	309	cAg/cTg	0	1	1	UPI0000D621D0	0	getma.org/pdb.php?prot=PZRN4_HUMAN&from=224&to=311&var=Q309L	ENST00000402685		ENSG00000165966	30552		59	0.56		HGNC	p.Q51L		PDZRN4		SNV							ENST00000539469	protein_coding	getma.org/?cm=var&var=hg19,12,41900340,A,T&fts=all		Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,PROSITE_profiles:PS50106		Q/L		T	neutral	934/3347		getma.org/?cm=msa&ty=f&p=PZRN4_HUMAN&rb=224&re=311&var=Q309L	deleterious(0)	B3KT02_HUMAN			YES	PDZRN4,missense_variant,p.Gln49Leu,ENST00000298919,;PDZRN4,missense_variant,p.Gln309Leu,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Gln51Leu,ENST00000539469,NM_013377.3;PDZRN4,upstream_gene_variant,,ENST00000548316,;							MODERATE	926/3111	Q309L	PZRN4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000384197		CCDS53777.1			1	
PHF3	0	LGGM	GRCh37	6	64395082	64395082	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	52	21	.	.	ENST00000262043.3:c.1459A>T	p.Lys487Ter	p.K487*	ENST00000262043		487	Aaa/Taa	0	1	1	UPI000007154D	0	NA	ENST00000262043		ENSG00000118482	8921		73	0		HGNC	p.K487X		PHF3		SNV							ENST00000393387	protein_coding	getma.org/?cm=var&var=hg19,6,64395082,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914		K/*		T	NA	1799/8233		NA		E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN			YES	PHF3,stop_gained,p.Lys487Ter,ENST00000262043,;PHF3,stop_gained,p.Lys487Ter,ENST00000393387,NM_015153.2;PHF3,stop_gained,p.Lys301Ter,ENST00000506783,;PHF3,stop_gained,p.Lys487Ter,ENST00000509330,;PHF3,stop_gained,p.Lys440Ter,ENST00000494284,;PHF3,stop_gained,p.Lys399Ter,ENST00000481385,;PHF3,intron_variant,,ENST00000515594,;PHF3,downstream_gene_variant,,ENST00000514822,;PHF3,3_prime_UTR_variant,,ENST00000509876,;							HIGH	1459/6120	K487*	PHF3_HUMAN			Transcript			.	ENSP00000262043		CCDS4966.1			1	
ADAM32	0	LGGM	GRCh37	8	39091450	39091450	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	52	21	.	.	ENST00000379907.4:c.1667A>T	p.Tyr556Phe	p.Y556F	ENST00000379907	NM_145004.5	556	tAc/tTc	0	1	1	UPI000013F62F	0	getma.org/pdb.php?prot=ADA32_HUMAN&from=479&to=596&var=Y556F	ENST00000379907		ENSG00000197140	15479		73	2.17		HGNC	p.Y556F		ADAM32		SNV							ENST00000379907	protein_coding	getma.org/?cm=var&var=hg19,8,39091450,A,T&fts=all		hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608		Y/F		T	medium	1794/2601		getma.org/?cm=msa&ty=f&p=ADA32_HUMAN&rb=479&re=596&var=Y556F	deleterious(0)	E5RJY7_HUMAN			YES	ADAM32,missense_variant,p.Tyr556Phe,ENST00000379907,NM_145004.5;ADAM32,missense_variant,p.Tyr457Phe,ENST00000437682,;ADAM32,missense_variant,p.Tyr450Phe,ENST00000519315,;ADAM32,intron_variant,,ENST00000520691,;							MODERATE	1667/2364	Y556F	ADA32_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369238		CCDS47846.1			1	
TMPRSS11D	0	LGGM	GRCh37	4	68698967	68698967	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	14	21	.	.	ENST00000283916.6:c.647T>A	p.Leu216Gln	p.L216Q	ENST00000283916	NM_004262.2	216	cTg/cAg	0	1	1	UPI000003FE66	0	getma.org/pdb.php?prot=TM11D_HUMAN&from=187&to=412&var=L216Q	ENST00000283916		ENSG00000153802	24059		35	3.78		HGNC	p.L99Q		TMPRSS11D		SNV							ENST00000545541	protein_coding	getma.org/?cm=var&var=hg19,4,68698967,A,T&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24256:SF36,hmmpanther:PTHR24256,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF037941,Superfamily_domains:SSF50494,Prints_domain:PR00722		L/Q		T	high	746/2817		getma.org/?cm=msa&ty=f&p=TM11D_HUMAN&rb=187&re=412&var=L216Q	deleterious(0)	Q4W5K4_HUMAN,B4DL57_HUMAN			YES	TMPRSS11D,missense_variant,p.Leu216Gln,ENST00000283916,NM_004262.2;TMPRSS11D,missense_variant,p.Leu99Gln,ENST00000545541,;TMPRSS11D,intron_variant,,ENST00000514868,;UBA6-AS1,intron_variant,,ENST00000500538,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000502573,;TMPRSS11D,downstream_gene_variant,,ENST00000509584,;TMPRSS11D,downstream_gene_variant,,ENST00000508409,;TMPRSS11D,downstream_gene_variant,,ENST00000511931,;TMPRSS11D,non_coding_transcript_exon_variant,,ENST00000505533,;TMPRSS11D,downstream_gene_variant,,ENST00000502822,;							MODERATE	647/1257	L216Q	TM11D_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000283916		CCDS3518.1			1	
C6orf211	0	LGGM	GRCh37	6	151785746	151785746	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	10	22	.	.	ENST00000367294.3:c.551T>G	p.Leu184Arg	p.L184R	ENST00000367294	NM_024573.1	184	cTt/cGt	0	1	1	UPI00000708C7	0	getma.org/pdb.php?prot=CF211_HUMAN&from=20&to=419&var=L184R	ENST00000367294		ENSG00000146476	17872		32	3.495		HGNC	p.L65R		C6orf211		SNV							ENST00000545879	protein_coding	getma.org/?cm=var&var=hg19,6,151785746,T,G&fts=all		hmmpanther:PTHR12260,hmmpanther:PTHR12260:SF1,Pfam_domain:PF01937,Superfamily_domains:SSF111321		L/R		G	medium	810/2576		getma.org/?cm=msa&ty=f&p=CF211_HUMAN&rb=20&re=419&var=L184R	deleterious(0)	F5GZY1_HUMAN			YES	C6orf211,missense_variant,p.Leu184Arg,ENST00000367294,NM_024573.1;C6orf211,missense_variant,p.Leu65Arg,ENST00000545879,NM_001286562.1;C6orf211,downstream_gene_variant,,ENST00000483931,;C6orf211,3_prime_UTR_variant,,ENST00000494826,;							MODERATE	551/1326	L184R	CF211_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000356263		CCDS5233.1			1	
GALNTL6	0	LGGM	GRCh37	4	173873216	173873216	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	13	22	.	.	ENST00000506823.1:c.1178T>A	p.Met393Lys	p.M393K	ENST00000506823	NM_001034845.2	393	aTg/aAg	0	1	1	UPI000058EB5C	0	getma.org/pdb.php?prot=GLTL6_HUMAN&from=329&to=453&var=M393K	ENST00000506823		ENSG00000174473	33844		35	3.885		HGNC	p.M376K		GALNTL6		SNV							ENST00000508122	protein_coding	getma.org/?cm=var&var=hg19,4,173873216,T,A&fts=all		Superfamily_domains:SSF53448,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34		M/K		A	high	1835/3922		getma.org/?cm=msa&ty=f&p=GLTL6_HUMAN&rb=329&re=453&var=M393K	deleterious(0)	E5D8G0_HUMAN			YES	GALNTL6,missense_variant,p.Met393Lys,ENST00000506823,NM_001034845.2;GALNTL6,missense_variant,p.Met376Lys,ENST00000508122,;							MODERATE	1178/1806	M393K	GLTL6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000423313		CCDS34104.1			1	
GRM7	0	LGGM	GRCh37	3	7620578	7620578	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	22	.	.	ENST00000357716.4:c.1985T>A	p.Leu662Ter	p.L662*	ENST00000357716	NM_000844.3	662	tTg/tAg	0	1	1	UPI000004A7E3	0	NA	ENST00000357716		ENSG00000196277	4599		67	0		HGNC	p.L662X		GRM7		SNV							ENST00000486284	protein_coding	getma.org/?cm=var&var=hg19,3,7620578,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00593		L/*		A	NA	2259/4127		NA		C9JU97_HUMAN			YES	GRM7,stop_gained,p.Leu662Ter,ENST00000486284,NM_181874.2;GRM7,stop_gained,p.Leu662Ter,ENST00000357716,NM_000844.3;GRM7,stop_gained,p.Leu662Ter,ENST00000389336,;GRM7,stop_gained,p.Leu662Ter,ENST00000402647,;GRM7,stop_gained,p.Leu662Ter,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,stop_gained,p.Leu662Ter,ENST00000467425,;GRM7,stop_gained,p.Leu662Ter,ENST00000440923,;GRM7,stop_gained,p.Leu662Ter,ENST00000389335,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;							HIGH	1985/2748	L662*	GRM7_HUMAN			Transcript			.	ENSP00000350348		CCDS43042.1			1	
ZNF569	0	LGGM	GRCh37	19	37905230	37905230	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	22	.	.	ENST00000316950.6:c.330A>C	p.Glu110Asp	p.E110D	ENST00000316950	NM_152484.2	110	gaA/gaC	0	1	1	UPI0000202203	0	NA	ENST00000316950		ENSG00000196437	24737		52	1.32		HGNC	p.E110D		ZNF569		SNV							ENST00000392149	protein_coding	getma.org/?cm=var&var=hg19,19,37905230,T,G&fts=all		hmmpanther:PTHR24375:SF68,hmmpanther:PTHR24375		E/D		G	low	888/4061		getma.org/?cm=msa&ty=f&p=ZN569_HUMAN&rb=49&re=199&var=E110D	tolerated(0.23)	Q17RR6_HUMAN			YES	ZNF569,missense_variant,p.Glu110Asp,ENST00000316950,NM_152484.2;ZNF569,missense_variant,p.Glu110Asp,ENST00000392149,;ZNF569,missense_variant,p.Glu134Asp,ENST00000448051,;ZNF569,5_prime_UTR_variant,,ENST00000392150,;ZNF569,3_prime_UTR_variant,,ENST00000592490,;							MODERATE	330/2061	E110D	ZN569_HUMAN			Transcript		benign(0.014)	.	ENSP00000325018		CCDS12503.1			1	
CARKD	0	LGGM	GRCh37	13	111276609	111276609	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	66	22	.	.	ENST00000309957.2:c.280A>G	p.Ile94Val	p.I94V	ENST00000309957	NM_001242881.1	94	Atc/Gtc	0	1	1	UPI000013DD48	0	getma.org/pdb.php?prot=NNRD_HUMAN&from=53&to=344&var=I94V	ENST00000309957		ENSG00000213995	25576		88	3.02		HGNC	p.I94V		CARKD		SNV							ENST00000309957	protein_coding	getma.org/?cm=var&var=hg19,13,111276609,A,G&fts=all		PROSITE_profiles:PS51383,HAMAP:MF_01965,hmmpanther:PTHR12592,TIGRFAM_domain:TIGR00196,Pfam_domain:PF01256,Gene3D:3.40.1190.20,Superfamily_domains:SSF53613		I/V		G	medium	294/2659		getma.org/?cm=msa&ty=f&p=NNRD_HUMAN&rb=53&re=344&var=I94V	deleterious(0.02)				YES	CARKD,missense_variant,p.Ile94Val,ENST00000309957,NM_001242881.1,NM_018210.3;CARKD,intron_variant,,ENST00000458711,;CARKD,intron_variant,,ENST00000397191,;CARKD,intron_variant,,ENST00000424185,NM_001242883.1;CARKD,non_coding_transcript_exon_variant,,ENST00000470164,;							MODERATE	280/1173	I94V	NNRD_HUMAN			Transcript		benign(0.28)	.	ENSP00000311984		CCDS9513.1			1	
KDM1B	0	LGGM	GRCh37	6	18222173	18222173	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	57	22	.	.	ENST00000297792.5:c.1723G>A	p.Gly575Arg	p.G575R	ENST00000297792		575	Ggg/Agg	0	1	1	UPI000023739E	0	getma.org/pdb.php?prot=KDM1B_HUMAN&from=392&to=820&var=G807R	ENST00000297792		ENSG00000165097	21577		79	3.7		HGNC	p.G805R		KDM1B		SNV							ENST00000388869	protein_coding	getma.org/?cm=var&var=hg19,6,18222173,G,A&fts=all		hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Pfam_domain:PF01593,Superfamily_domains:SSF51905		G/R		A	high	1900/3811		getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=392&re=820&var=G807R	deleterious(0)	Q08EI0_HUMAN			YES	KDM1B,missense_variant,p.Gly808Arg,ENST00000388870,;KDM1B,missense_variant,p.Gly576Arg,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Gly575Arg,ENST00000297792,;KDM1B,missense_variant,p.Gly625Arg,ENST00000449850,;KDM1B,missense_variant,p.Gly98Arg,ENST00000546309,;DEK,downstream_gene_variant,,ENST00000397239,NM_003472.3;DEK,downstream_gene_variant,,ENST00000244776,NM_001134709.1;DEK,downstream_gene_variant,,ENST00000507591,;DEK,downstream_gene_variant,,ENST00000505224,;							MODERATE	1723/1773	G807R	KDM1B_HUMAN			Transcript		unknown(0)	.	ENSP00000297792		CCDS34343.1			1	
ABCB7	0	LGGM	GRCh37	X	74332798	74332798	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	26	22	.	.	ENST00000253577.3:c.259G>A	p.Val87Ile	p.V87I	ENST00000253577	NM_001271696.1	87	Gta/Ata	0	1		UPI0000125116	0	NA	ENST00000373394		ENSG00000131269	48		48	0.345		HGNC	p.V60I		ABCB7		SNV			1				ENST00000529949	protein_coding	getma.org/?cm=var&var=hg19,X,74332798,C,T&fts=all		hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF18		V/I		T	neutral	264/2353		getma.org/?cm=msa&ty=f&p=ABCB7_HUMAN&rb=1&re=139&var=V86I	tolerated(0.3)					ABCB7,missense_variant,p.Val87Ile,ENST00000253577,NM_001271696.1,NM_004299.4;ABCB7,missense_variant,p.Val86Ile,ENST00000373394,;ABCB7,missense_variant,p.Val86Ile,ENST00000339447,NM_001271699.1,NM_001271697.1;ABCB7,missense_variant,p.Val60Ile,ENST00000529949,NM_001271698.1;ABCB7,missense_variant,p.Val99Ile,ENST00000526404,;ABCB7,intron_variant,,ENST00000534524,;							MODERATE	256/2259	V86I	ABCB7_HUMAN			Transcript		benign(0.005)	.	ENSP00000362492		CCDS65291.1			1	
KCTD18	0	LGGM	GRCh37	2	201363685	201363685	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	44	22	.	.	ENST00000359878.3:c.495A>T	p.Thr165=	p.T165=	ENST00000359878	NM_152387.2	165	acA/acT	0	1	1	UPI0000209355	0		ENST00000359878		ENSG00000155729	26446		66			HGNC	p.T165T		KCTD18		SNV							ENST00000359878	protein_coding			hmmpanther:PTHR14499:SF4,hmmpanther:PTHR14499		T		A		1006/2940							YES	KCTD18,synonymous_variant,p.=,ENST00000359878,NM_152387.2;KCTD18,synonymous_variant,p.=,ENST00000409157,;KCTD18,non_coding_transcript_exon_variant,,ENST00000468413,;KCTD18,downstream_gene_variant,,ENST00000447556,;KCTD18,non_coding_transcript_exon_variant,,ENST00000478816,;							LOW	495/1281		KCD18_HUMAN			Transcript			.	ENSP00000352941		CCDS2330.1			1	
DZANK1	0	LGGM	GRCh37	20	18440855	18440855	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	49	22	.	.	ENST00000262547.5:c.205A>T	p.Ile69Leu	p.I69L	ENST00000262547	NM_001099407.1	69	Ata/Tta	0	1	1	UPI0000E064B4	0	NA	ENST00000262547		ENSG00000089091	15858		71	0.345		HGNC	p.I69L		DZANK1		SNV							ENST00000262547	protein_coding	getma.org/?cm=var&var=hg19,20,18440855,T,A&fts=all		Pfam_domain:PF13290,hmmpanther:PTHR16058,hmmpanther:PTHR16058:SF4		I/L		A	neutral	414/3498		getma.org/?cm=msa&ty=f&p=DZAN1_HUMAN&rb=1&re=200&var=I69L	tolerated(0.15)				YES	DZANK1,missense_variant,p.Ile69Leu,ENST00000262547,NM_001099407.1;DZANK1,missense_variant,p.Ile69Leu,ENST00000329494,;DZANK1,missense_variant,p.Ile69Leu,ENST00000358866,;DZANK1,5_prime_UTR_variant,,ENST00000357236,;DZANK1,non_coding_transcript_exon_variant,,ENST00000460891,;DZANK1,missense_variant,p.Ile69Leu,ENST00000608192,;DZANK1,missense_variant,p.Ile69Leu,ENST00000377630,;DZANK1,missense_variant,p.Ile69Leu,ENST00000609267,;							MODERATE	205/2259	I69L	DZAN1_HUMAN			Transcript		benign(0.026)	.	ENSP00000262547		CCDS46582.1			1	
NHLRC2	0	LGGM	GRCh37	10	115664608	115664608	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	28	23	.	.	ENST00000369301.3:c.1737A>T	p.Val579=	p.V579=	ENST00000369301	NM_198514.3	579	gtA/gtT	0	1	1	UPI0000071EAF	0		ENST00000369301		ENSG00000196865	24731		51			HGNC	p.V579V		NHLRC2		SNV							ENST00000369301	protein_coding			hmmpanther:PTHR13833:SF13,hmmpanther:PTHR13833		V		T		1949/11051							YES	NHLRC2,synonymous_variant,p.=,ENST00000369301,NM_198514.3;							LOW	1737/2181		NHLC2_HUMAN			Transcript			.	ENSP00000358307		CCDS7585.1			1	
DPH6	0	LGGM	GRCh37	15	35742963	35742963	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	43	23	.	.	ENST00000256538.4:c.428A>T	p.Gln143Leu	p.Q143L	ENST00000256538	NM_080650.3	143	cAg/cTg	0	1	1	UPI000007296C	0	getma.org/pdb.php?prot=ATBD4_HUMAN&from=1&to=239&var=Q143L	ENST00000256538		ENSG00000134146	30543		66	1.965		HGNC	p.Q95L		DPH6		SNV							ENST00000561411	protein_coding	getma.org/?cm=var&var=hg19,15,35742963,T,A&fts=all		Gene3D:3.40.50.620,Pfam_domain:PF01902,hmmpanther:PTHR12196,Superfamily_domains:SSF52402,TIGRFAM_domain:TIGR00290		Q/L		A	medium	455/2099		getma.org/?cm=msa&ty=f&p=ATBD4_HUMAN&rb=1&re=239&var=Q143L	deleterious(0.04)	H0YND7_HUMAN			YES	DPH6,missense_variant,p.Gln143Leu,ENST00000256538,NM_080650.3;DPH6,missense_variant,p.Gln95Leu,ENST00000561411,;DPH6,missense_variant,p.Gln19Leu,ENST00000558266,;DPH6,intron_variant,,ENST00000559784,;							MODERATE	428/804	Q143L	DPH6_HUMAN			Transcript		benign(0.022)	.	ENSP00000256538		CCDS10043.1			1	
GRM6	0	LGGM	GRCh37	5	178409925	178409925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	23	.	.	ENST00000231188.5:c.2422C>A	p.Gln808Lys	p.Q808K	ENST00000231188	NM_000843.3	808	Cag/Aag	0	1	1	UPI000013C947	0	NA	ENST00000231188		ENSG00000113262	4598		53	2.34		HGNC	p.Q808K		GRM6		SNV			1				ENST00000231188	protein_coding	getma.org/?cm=var&var=hg19,5,178409925,G,T&fts=all		Pfam_domain:PF00003,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,PROSITE_profiles:PS50259		Q/K		T	medium	2601/6143		getma.org/?cm=msa&ty=f&p=GRM6_HUMAN&rb=595&re=843&var=Q808K	deleterious(0.04)				YES	GRM6,missense_variant,p.Gln808Lys,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Gln808Lys,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,non_coding_transcript_exon_variant,,ENST00000519003,;GRM6,downstream_gene_variant,,ENST00000518082,;							MODERATE	2422/2634	Q808K	GRM6_HUMAN			Transcript		benign(0.055)	.	ENSP00000231188		CCDS4442.1			1	
KRT28	0	LGGM	GRCh37	17	38954515	38954515	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	43	23	.	.	ENST00000306658.7:c.662T>A	p.Met221Lys	p.M221K	ENST00000306658	NM_181535.3	221	aTg/aAg	0	1	1	UPI0000246D70	0	getma.org/pdb.php?prot=K1C28_HUMAN&from=85&to=400&var=M221K	ENST00000306658		ENSG00000173908	30842		66	1.04		HGNC	p.M221K		KRT28		SNV							ENST00000306658	protein_coding	getma.org/?cm=var&var=hg19,17,38954515,A,T&fts=all		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF145		M/K		T	low	728/1685		getma.org/?cm=msa&ty=f&p=K1C28_HUMAN&rb=85&re=400&var=M221K	deleterious(0)				YES	KRT28,missense_variant,p.Met221Lys,ENST00000306658,NM_181535.3;							MODERATE	662/1395	M221K	K1C28_HUMAN			Transcript		benign(0.102)	.	ENSP00000305263		CCDS11376.1			1	
RGSL1	0	LGGM	GRCh37	1	182458235	182458235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	23	.	.	ENST00000294854.8:c.1615A>T	p.Met539Leu	p.M539L	ENST00000294854	NM_001137669.1	539	Atg/Ttg	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		53	1.1		HGNC	p.M539L		RGSL1		SNV							ENST00000294854	protein_coding	getma.org/?cm=var&var=hg19,1,182458235,A,T&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		M/L		T	low	1635/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=401&re=600&var=M539L	tolerated(0.6)	H3BNQ0_HUMAN			YES	RGSL1,missense_variant,p.Met539Leu,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.Met574Leu,ENST00000542961,;RGSL1,missense_variant,p.Met574Leu,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000422241,;RGSL1,intron_variant,,ENST00000415960,;RGSL1,upstream_gene_variant,,ENST00000436031,;RGSL1,downstream_gene_variant,,ENST00000367561,;RGSL1,downstream_gene_variant,,ENST00000416676,;							MODERATE	1615/3231	M539L	RGSL_HUMAN			Transcript		benign(0.003)	.	ENSP00000457748		CCDS58049.1			1	
SLC4A11	0	LGGM	GRCh37	20	3211249	3211249	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	40	24	.	.	ENST00000380059.3:c.1456T>A	p.Phe486Ile	p.F486I	ENST00000380059	NM_001174090.1	486	Ttc/Atc	0	1		UPI0000001CA2	0	NA	ENST00000380056		ENSG00000088836	16438		64	2.105		HGNC	p.F459I		SLC4A11		SNV			1				ENST00000380056	protein_coding	getma.org/?cm=var&var=hg19,20,3211249,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF35,Pfam_domain:PF00955		F/I		T	medium	1423/3094		getma.org/?cm=msa&ty=f&p=S4A11_HUMAN&rb=338&re=835&var=F459I	tolerated(0.08)	R9UQR4_HUMAN,R9UQ67_HUMAN,R9UQ64_HUMAN,R9UQ62_HUMAN,R9UQ58_HUMAN,R9UNY3_HUMAN,R9UMG9_HUMAN				SLC4A11,missense_variant,p.Phe486Ile,ENST00000380059,NM_001174090.1;SLC4A11,missense_variant,p.Phe459Ile,ENST00000380056,NM_032034.3;SLC4A11,missense_variant,p.Phe443Ile,ENST00000539553,NM_001174089.1;SLC4A11,downstream_gene_variant,,ENST00000437836,;SLC4A11,upstream_gene_variant,,ENST00000488544,;SLC4A11,upstream_gene_variant,,ENST00000470631,;SLC4A11,missense_variant,p.Phe424Ile,ENST00000474451,;							MODERATE	1375/2676	F459I	S4A11_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000369396		CCDS13052.1			1	
ROBO2	0	LGGM	GRCh37	3	77656980	77656980	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	24	.	.	ENST00000487694.3:c.3216A>T	p.Lys1072Asn	p.K1072N	ENST00000487694	NM_001128929.2	1072	aaA/aaT	0	1		UPI00003A9322	0	NA	ENST00000461745		ENSG00000185008	10250		69	0.345		HGNC	p.K1056N		ROBO2		SNV			1				ENST00000332191	protein_coding	getma.org/?cm=var&var=hg19,3,77656980,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489		K/N		T	neutral	4068/8946		getma.org/?cm=msa&ty=f&p=ROBO2_HUMAN&rb=1027&re=1226&var=K1056N	tolerated(0.22)					ROBO2,missense_variant,p.Lys1056Asn,ENST00000461745,NM_002942.4;ROBO2,missense_variant,p.Lys1072Asn,ENST00000487694,NM_001128929.2;ROBO2,missense_variant,p.Lys1056Asn,ENST00000332191,;ROBO2,missense_variant,p.Lys213Asn,ENST00000490991,;ROBO2,missense_variant,p.Lys173Asn,ENST00000471893,;ROBO2,downstream_gene_variant,,ENST00000602589,;ROBO2,non_coding_transcript_exon_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;							MODERATE	3168/4137	K1056N	ROBO2_HUMAN			Transcript		benign(0.403)	.	ENSP00000417164		CCDS43109.1			1	
DSP	0	LGGM	GRCh37	6	7565607	7565607	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	17	25	.	.	ENST00000379802.3:c.793A>T	p.Arg265Trp	p.R265W	ENST00000379802	NM_004415.2	265	Agg/Tgg	0	1	1	UPI000013C67F	0	getma.org/pdb.php?prot=DESP_HUMAN&from=201&to=400&var=R265W	ENST00000379802		ENSG00000096696	3052		42	2.71		HGNC	p.R265W		DSP		SNV			1				ENST00000379802	protein_coding	getma.org/?cm=var&var=hg19,6,7565607,A,T&fts=all		Superfamily_domains:SSF46966,SMART_domains:SM00150,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		R/W		T	medium	1134/9796		getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=201&re=400&var=R265W		G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,missense_variant,p.Arg265Trp,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Arg265Trp,ENST00000418664,NM_001008844.1;DSP,non_coding_transcript_exon_variant,,ENST00000506617,;							MODERATE	793/8616	R265W	DESP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000369129		CCDS4501.1			1	
ZNF234	0	LGGM	GRCh37	19	44661341	44661341	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	25	.	.	ENST00000426739.2:c.1172A>T	p.Gln391Leu	p.Q391L	ENST00000426739	NM_006630.2	391	cAg/cTg	0	1	1	UPI0000070C95	0	getma.org/pdb.php?prot=ZN234_HUMAN&from=386&to=410&var=Q391L	ENST00000426739		ENSG00000263002	13027		70	1.04		HGNC	p.Q391L		ZNF234		SNV							ENST00000426739	protein_coding	getma.org/?cm=var&var=hg19,19,44661341,A,T&fts=all		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		Q/L		T	low	1430/3245		getma.org/?cm=msa&ty=f&p=ZN234_HUMAN&rb=366&re=430&var=Q391L	tolerated(0.14)	Q86WM3_HUMAN,Q86WM2_HUMAN			YES	ZNF234,missense_variant,p.Gln391Leu,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Gln391Leu,ENST00000592437,NM_001144824.1;							MODERATE	1172/2103	Q391L	ZN234_HUMAN			Transcript		benign(0.032)	.	ENSP00000400878		CCDS46101.1			1	
RTL1	0	LGGM	GRCh37	14	101349329	101349329	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	46	25	.	.	ENST00000534062.1:c.1797A>T	p.Gly599=	p.G599=	ENST00000534062	NM_001134888.2	599	ggA/ggT	0	1	1	UPI00001D7B9E	0		ENST00000534062		ENSG00000254656	14665		71			HGNC	p.G599G		RTL1		SNV			1				ENST00000534062	protein_coding					G		A		1856/4193							YES	RTL1,synonymous_variant,p.=,ENST00000534062,NM_001134888.2;MIR127,non_coding_transcript_exon_variant,,ENST00000384876,;MIR433,downstream_gene_variant,,ENST00000384837,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR136,upstream_gene_variant,,ENST00000385207,;							LOW	1797/4077		RTL1_HUMAN			Transcript			.	ENSP00000435342		CCDS53910.1			1	
SLC16A6	0	LGGM	GRCh37	17	66267689	66267689	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	75	25	.	.	ENST00000327268.4:c.612T>A	p.Phe204Leu	p.F204L	ENST00000327268	NM_001174166.1	204	ttT/ttA	0	1	1	UPI00001AA3B9	0	NA	ENST00000327268		ENSG00000108932	10927		100	-0.695		HGNC	p.F204L		SLC16A6		SNV							ENST00000580666	protein_coding	getma.org/?cm=var&var=hg19,17,66267689,A,T&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF20,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		F/L		T	neutral	777/3807		getma.org/?cm=msa&ty=f&p=MOT7_HUMAN&rb=31&re=437&var=F204L	tolerated(0.16)	J3KS02_HUMAN,A1L174_HUMAN			YES	SLC16A6,missense_variant,p.Phe204Leu,ENST00000327268,NM_001174166.1;SLC16A6,missense_variant,p.Phe204Leu,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,;							MODERATE	612/1572	F204L	MOT7_HUMAN			Transcript		benign(0)	.	ENSP00000319991		CCDS11675.1			1	
KIAA1211	0	LGGM	GRCh37	4	57179527	57179527	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	25	25	.	.	ENST00000504228.1:c.519G>A	p.Lys173=	p.K173=	ENST00000504228		173	aaG/aaA	0	1		UPI0000237309	0		ENST00000264229		ENSG00000109265	29219		50			HGNC	p.K173K		KIAA1211		SNV							ENST00000264229	protein_coding			Pfam_domain:PF15262,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		K		A		910/4109								KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;							LOW	519/3702		K1211_HUMAN			Transcript			.	ENSP00000264229		CCDS43230.1			1	
NRXN1	0	LGGM	GRCh37	2	50692694	50692694	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	33	25	.	.	ENST00000404971.1:c.3370A>T	p.Ser1124Cys	p.S1124C	ENST00000404971	NM_001135659.1	1124	Agc/Tgc	0	1		UPI0000130A9D	0	getma.org/pdb.php?prot=NRX1A_HUMAN&from=1083&to=1120&var=S1084C	ENST00000406316		ENSG00000179915	8008		58	2.625		HGNC	p.S1084C		NRXN1		SNV			1				ENST00000401669	protein_coding	getma.org/?cm=var&var=hg19,2,50692694,T,A&fts=all		Gene3D:2.60.120.200,PROSITE_profiles:PS50026,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565		S/C		A	medium	4727/7505		getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=1083&re=1120&var=S1084C	deleterious(0)	Q08AH0_HUMAN				NRXN1,missense_variant,p.Ser1124Cys,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Ser1084Cys,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Ser1084Cys,ENST00000401669,;NRXN1,missense_variant,p.Ser1076Cys,ENST00000405472,;NRXN1,missense_variant,p.Ser1076Cys,ENST00000402717,;NRXN1,missense_variant,p.Ser1084Cys,ENST00000406859,;NRXN1,missense_variant,p.Ser102Cys,ENST00000401710,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;							MODERATE	3250/4434	S1084C	NRX1A_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000384311		CCDS54360.1			1	
AHI1	0	LGGM	GRCh37	6	135769601	135769601	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	98	25	.	.	ENST00000367800.4:c.1453A>T	p.Asn485Tyr	p.N485Y	ENST00000367800	NM_001134830.1	485	Aat/Tat	0	1		UPI00000701FB	0	NA	ENST00000265602		ENSG00000135541	21575		123	2.545		HGNC	p.N485Y		AHI1		SNV			1				ENST00000265602	protein_coding	getma.org/?cm=var&var=hg19,6,135769601,T,A&fts=all		hmmpanther:PTHR22847:SF50,hmmpanther:PTHR22847		N/Y		A	medium	1848/4335		getma.org/?cm=msa&ty=f&p=AHI1_HUMAN&rb=363&re=497&var=N485Y	deleterious(0)					AHI1,missense_variant,p.Asn485Tyr,ENST00000367800,NM_001134830.1;AHI1,missense_variant,p.Asn485Tyr,ENST00000457866,NM_017651.4;AHI1,missense_variant,p.Asn485Tyr,ENST00000265602,NM_001134831.1;AHI1,missense_variant,p.Asn485Tyr,ENST00000327035,NM_001134832.1;AHI1,upstream_gene_variant,,ENST00000367799,;AHI1,missense_variant,p.Asn485Tyr,ENST00000531788,;							MODERATE	1453/3591	N485Y	AHI1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000265602		CCDS47483.1			1	
ATP6AP1L	0	LGGM	GRCh37	5	81613943	81613943	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	36	25	.	.	ENST00000380167.4:c.499C>T	p.Leu167=	p.L167=	ENST00000380167		167	Ctg/Ttg	0	1	1	UPI000015F4B3	0		ENST00000380167		ENSG00000205464	28091		61			HGNC	p.L167L		ATP6AP1L		SNV							ENST00000380167	protein_coding			hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF3,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L		T		1824/2503							YES	ATP6AP1L,synonymous_variant,p.=,ENST00000380167,;ATP6AP1L,synonymous_variant,p.=,ENST00000439350,NM_001017971.1;ATP6AP1L,intron_variant,,ENST00000508366,;ATP6AP1L,non_coding_transcript_exon_variant,,ENST00000514672,;							LOW	499/675		VAS1L_HUMAN			Transcript			.	ENSP00000369513		CCDS34196.1			1	
GPR111	0	LGGM	GRCh37	6	47624303	47624303	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	17	26	.	.	ENST00000296862.1:c.81A>G	p.Thr27=	p.T27=	ENST00000296862		27	acA/acG	0	1	1	UPI000007411C	0		ENST00000296862		ENSG00000164393	18991		43			HGNC	p.T27T		GPR111		SNV							ENST00000296862	protein_coding					T		G		81/2127							YES	GPR111,synonymous_variant,p.=,ENST00000296862,;GPR111,5_prime_UTR_variant,,ENST00000507065,;GPR111,upstream_gene_variant,,ENST00000467205,NM_153839.6;							LOW	81/2127		GP111_HUMAN			Transcript			.	ENSP00000296862					1	
ANK3	0	LGGM	GRCh37	10	61832384	61832384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	26	.	.	ENST00000280772.2:c.8255A>T	p.Gln2752Leu	p.Q2752L	ENST00000280772	NM_020987.3	2752	cAg/cTg	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		71	1.04		HGNC	p.Q2752L		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61832384,T,A&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		Q/L		A	low	8447/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=2594&re=2793&var=Q2752L		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Gln2752Leu,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,;							MODERATE	8255/13134	Q2752L	ANK3_HUMAN			Transcript		benign(0)	.	ENSP00000280772		CCDS7258.1			1	
PLB1	0	LGGM	GRCh37	2	28816912	28816912	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	73	26	.	.	ENST00000327757.5:c.2321+291A>T		*774*	ENST00000327757	NM_153021.4			0	1	1	UPI0000D6117C	0		ENST00000327757		ENSG00000163803	30041		99			HGNC	p.N487Y		PLB1		SNV							ENST00000329020	protein_coding							T		-/5107							YES	PLB1,missense_variant,p.Asn509Tyr,ENST00000436544,;PLB1,missense_variant,p.Asn487Tyr,ENST00000329020,;PLB1,intron_variant,,ENST00000422425,NM_001170585.1;PLB1,intron_variant,,ENST00000327757,NM_153021.4;PLB1,intron_variant,,ENST00000404858,;PLB1,downstream_gene_variant,,ENST00000481449,;							MODIFIER	-/4377		PLB1_HUMAN			Transcript			.	ENSP00000330442		CCDS33168.1			1	
CLDN17	0	LGGM	GRCh37	21	31538710	31538710	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	26	.	.	ENST00000286808.3:c.226G>T	p.Ala76Ser	p.A76S	ENST00000286808	NM_012131.2	76	Gcc/Tcc	0	1	1	UPI000004E655	0	NA	ENST00000286808		ENSG00000156282	2038		71	0.65		HGNC	p.A76S		CLDN17		SNV							ENST00000286808	protein_coding	getma.org/?cm=var&var=hg19,21,31538710,C,A&fts=all		Pfam_domain:PF00822,hmmpanther:PTHR12002:SF75,hmmpanther:PTHR12002		A/S		A	neutral	262/731		getma.org/?cm=msa&ty=f&p=CLD17_HUMAN&rb=4&re=182&var=A76S	tolerated(0.2)				YES	CLDN17,missense_variant,p.Ala76Ser,ENST00000286808,NM_012131.2;							MODERATE	226/675	A76S	CLD17_HUMAN			Transcript		benign(0.005)	.	ENSP00000286808		CCDS13586.1			1	
MUC12	0	LGGM	GRCh37	7	100636679	100636679	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	5	26	.	.	ENST00000536621.1:c.2835T>A	p.Thr945=	p.T945=	ENST00000536621	NM_001164462.1	945	acT/acA	0	1		UPI0001722DB1	0		ENST00000379442		ENSG00000205277	7510		31			HGNC	p.T945T		MUC12		SNV							ENST00000536621	protein_coding			hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		T		A		3264/16737								MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;							LOW	3264/16437		MUC12_HUMAN			Transcript			.	ENSP00000368755					1	
PPP2R1A	0	LGGM	GRCh37	19	52729000	52729000	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	52	27	.	.	ENST00000322088.6:c.1692A>T	p.Leu564=	p.L564=	ENST00000322088	NM_014225.5	564	ctA/ctT	0	1	1	UPI000006EB9C	0		ENST00000322088		ENSG00000105568	9302		79			HGNC	p.L509L		PPP2R1A		SNV			1				ENST00000444322	protein_coding			Gene3D:1.25.10.10,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371		L		T		1750/3281				B4DDF7_HUMAN,B3KQV6_HUMAN,A8K7B7_HUMAN			YES	PPP2R1A,synonymous_variant,p.=,ENST00000322088,NM_014225.5;PPP2R1A,synonymous_variant,p.=,ENST00000462990,;PPP2R1A,synonymous_variant,p.=,ENST00000444322,;PPP2R1A,synonymous_variant,p.=,ENST00000391791,;CTD-2525I3.3,intron_variant,,ENST00000593857,;CTD-2525I3.3,downstream_gene_variant,,ENST00000599125,;CTD-2525I3.3,downstream_gene_variant,,ENST00000601745,;							LOW	1692/1770		2AAA_HUMAN			Transcript			.	ENSP00000324804		CCDS12849.1			1	
CELSR1	0	LGGM	GRCh37	22	46931551	46931551	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	19	27	.	.	ENST00000262738.3:c.1517A>T	p.Gln506Leu	p.Q506L	ENST00000262738	NM_014246.1	506	cAg/cTg	0	1	1	UPI0000040648	0	getma.org/pdb.php?prot=CELR1_HUMAN&from=464&to=556&var=Q506L	ENST00000262738		ENSG00000075275	1850		46	-0.075		HGNC	p.Q506L		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46931551,T,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268		Q/L		A	neutral	1517/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=464&re=556&var=Q506L	tolerated(0.06)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.Gln506Leu,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Gln506Leu,ENST00000395964,;CELSR1,upstream_gene_variant,,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;							MODERATE	1517/9045	Q506L	CELR1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262738		CCDS14076.1			1	
ACAN	0	LGGM	GRCh37	15	89388929	89388929	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	36	27	.	.	ENST00000439576.2:c.1245G>A	p.Glu415=	p.E415=	ENST00000439576	NM_013227.3	415	gaG/gaA	0	1	1	UPI0001B23381	0		ENST00000439576		ENSG00000157766	319		63			HGNC	p.E415E		ACAN		SNV			1				ENST00000561243	protein_coding			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,Low_complexity_(Seg):seg		E		A		1619/8840				Q6LE94_HUMAN,E7EX88_HUMAN			YES	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,;							LOW	1245/7593					Transcript			.	ENSP00000387356		CCDS53970.1			1	
KIAA1551	0	LGGM	GRCh37	12	32137693	32137693	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	31	28	.	.	ENST00000312561.4:c.3804A>T	p.Pro1268=	p.P1268=	ENST00000312561	NM_018169.3	1268	ccA/ccT	0	1	1	UPI0000577B2F	0		ENST00000312561		ENSG00000174718	25559		59			HGNC	p.P1268P		KIAA1551		SNV							ENST00000312561	protein_coding			Pfam_domain:PF15395,hmmpanther:PTHR21604		P		T		4218/6228				J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,synonymous_variant,p.=,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,;							LOW	3804/5244		K1551_HUMAN			Transcript			.	ENSP00000310338		CCDS8725.2			1	
ZFYVE20	0	LGGM	GRCh37	3	15115403	15115403	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	32	28	.	.	ENST00000253699.3:c.2241G>A	p.Lys747=	p.K747=	ENST00000253699	NM_022340.2	747	aaG/aaA	0	1	1	UPI0000051CE0	0		ENST00000253699		ENSG00000131381	20759		60			HGNC	p.K747K	rs777022072	ZFYVE20	6.06E-05	SNV							ENST00000476527	protein_coding			Superfamily_domains:SSF140125,Pfam_domain:PF11464,hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510		K		T		2855/6678				D6RD50_HUMAN			YES	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,;							LOW	2241/2355		RBNS5_HUMAN			Transcript			.	ENSP00000253699	8.24E-06	CCDS2623.1			1	
PXDNL	0	LGGM	GRCh37	8	52320794	52320794	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	83	28	.	.	ENST00000356297.4:c.3390T>A	p.Ala1130=	p.A1130=	ENST00000356297	NM_144651.4	1130	gcT/gcA	0	1	1	UPI0001AE6ED6	0		ENST00000356297		ENSG00000147485	26359		111			HGNC	p.A1130A		PXDNL		SNV							ENST00000543296	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		A		T		3491/4805							YES	PXDNL,synonymous_variant,p.=,ENST00000356297,NM_144651.4;PXDNL,synonymous_variant,p.=,ENST00000543296,;PXDNL,synonymous_variant,p.=,ENST00000522933,;PXDNL,synonymous_variant,p.=,ENST00000522628,;							LOW	3390/4392		PXDNL_HUMAN			Transcript			.	ENSP00000348645		CCDS47855.1			1	
SPN	0	LGGM	GRCh37	16	29675695	29675695	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	71	28	.	.	ENST00000360121.3:c.646A>T	p.Ser216Cys	p.S216C	ENST00000360121	NM_001030288.2	216	Agc/Tgc	0	1	1	UPI000012E5AA	0	NA	ENST00000360121		ENSG00000197471	11249		99	1.59		HGNC	p.S216C		SPN		SNV							ENST00000360121	protein_coding	getma.org/?cm=var&var=hg19,16,29675695,A,T&fts=all				S/C		T	low	738/6854		getma.org/?cm=msa&ty=f&p=LEUK_HUMAN&rb=1&re=269&var=S216C	deleterious(0.04)	C9JUK7_HUMAN,A8K9B1_HUMAN			YES	SPN,missense_variant,p.Ser216Cys,ENST00000360121,NM_001030288.2,NM_003123.4;SPN,missense_variant,p.Ser216Cys,ENST00000395389,;SPN,missense_variant,p.Ser216Cys,ENST00000436527,;QPRT,intron_variant,,ENST00000449759,;SPN,missense_variant,p.Ser216Cys,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;							MODERATE	646/1203	S216C	LEUK_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000353238		CCDS10650.1			1	
TAGAP	0	LGGM	GRCh37	6	159457285	159457285	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	23	28	.	.	ENST00000367066.3:c.1770T>A	p.Pro590=	p.P590=	ENST00000367066	NM_054114.4	590	ccT/ccA	0	1	1	UPI0000071CD5	0		ENST00000367066		ENSG00000164691	15669		51			HGNC	p.P590P		TAGAP		SNV							ENST00000367066	protein_coding			hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF26		P		T		2102/3887							YES	TAGAP,synonymous_variant,p.=,ENST00000367066,NM_054114.4,NM_001278733.1;TAGAP,synonymous_variant,p.=,ENST00000326965,NM_152133.2;TAGAP,downstream_gene_variant,,ENST00000338313,NM_138810.3;RP1-111C20.4,intron_variant,,ENST00000607391,;RP1-111C20.4,intron_variant,,ENST00000606466,;RP1-111C20.4,intron_variant,,ENST00000607796,;RP1-111C20.4,intron_variant,,ENST00000606470,;							LOW	1770/2196		TAGAP_HUMAN			Transcript			.	ENSP00000356033		CCDS5261.1			1	
CLDN11	0	LGGM	GRCh37	3	170150540	170150540	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	33	29	.	.	ENST00000064724.3:c.620T>A	p.Val207Glu	p.V207E	ENST00000064724	NM_005602.5	207	gTa/gAa	0	1	1	UPI0000127AB4	0	NA	ENST00000064724		ENSG00000013297	8514		62	0.975		HGNC	p.V207E		CLDN11		SNV							ENST00000064724	protein_coding	getma.org/?cm=var&var=hg19,3,170150540,T,A&fts=all				V/E		A	low	822/2169		getma.org/?cm=msa&ty=f&p=CLD11_HUMAN&rb=176&re=207&var=V207E	deleterious(0)				YES	CLDN11,missense_variant,p.Val207Glu,ENST00000064724,NM_005602.5;CLDN11,intron_variant,,ENST00000486975,;CLDN11,intron_variant,,ENST00000451576,;CLDN11,non_coding_transcript_exon_variant,,ENST00000489485,;CLDN11,non_coding_transcript_exon_variant,,ENST00000477531,;CLDN11,intron_variant,,ENST00000468358,;CLDN11,intron_variant,,ENST00000471373,;CLDN11,upstream_gene_variant,,ENST00000488989,;							MODERATE	620/624	V207E	CLD11_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000064724		CCDS3213.1			1	
VPS13D	0	LGGM	GRCh37	1	12337727	12337727	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	21	29	.	.	ENST00000358136.3:c.4082A>G	p.Tyr1361Cys	p.Y1361C	ENST00000358136	NM_015378.2	1361	tAt/tGt	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		50	0.805		HGNC	p.Y1361C	rs566819766	VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12337727,A,G&fts=all		hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166		Y/C		G	low	4212/16318	1.50E-05	getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=1319&re=1518&var=Y1361C		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Tyr1361Cys,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Tyr1361Cys,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Tyr184Cys,ENST00000011700,;							MODERATE	4082/13167	Y1361C				Transcript		benign(0.22)	.	ENSP00000350854	8.24E-06	CCDS30588.1			1	
KCNJ16	0	LGGM	GRCh37	17	68128781	68128781	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	66	29	.	.	ENST00000392670.1:c.553A>T	p.Ser185Cys	p.S185C	ENST00000392670		185	Agc/Tgc	0	1		UPI000012D8B3	0	getma.org/pdb.php?prot=IRK16_HUMAN&from=37&to=368&var=S185C	ENST00000283936		ENSG00000153822	6262		95	3.33		HGNC	p.S220C		KCNJ16		SNV							ENST00000585558	protein_coding	getma.org/?cm=var&var=hg19,17,68128781,A,T&fts=all		Superfamily_domains:SSF81296,PIRSF_domain:PIRSF005465,Gene3D:2.60.40.1400,Pfam_domain:PF01007,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF24		S/C		T	medium	1039/4002		getma.org/?cm=msa&ty=f&p=IRK16_HUMAN&rb=37&re=368&var=S185C	deleterious(0)	K7ELL5_HUMAN,K7EKJ4_HUMAN				KCNJ16,missense_variant,p.Ser220Cys,ENST00000585558,;KCNJ16,missense_variant,p.Ser185Cys,ENST00000392670,;KCNJ16,missense_variant,p.Ser185Cys,ENST00000283936,NM_018658.2;KCNJ16,missense_variant,p.Ser185Cys,ENST00000392671,NM_170741.2;KCNJ16,missense_variant,p.Ser185Cys,ENST00000589377,NM_001270422.1;KCNJ16,missense_variant,p.Ser224Cys,ENST00000586462,;KCNJ16,downstream_gene_variant,,ENST00000587698,;KCNJ16,downstream_gene_variant,,ENST00000587892,;KCNJ16,downstream_gene_variant,,ENST00000591891,;AC002539.1,upstream_gene_variant,,ENST00000435112,;							MODERATE	553/1257	S185C	IRK16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000283936		CCDS11687.1			1	
NUP205	0	LGGM	GRCh37	7	135322804	135322804	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	67	29	.	.	ENST00000285968.6:c.5262G>A	p.Gln1754=	p.Q1754=	ENST00000285968	NM_015135.2	1754	caG/caA	0	1	1	UPI00001D74D8	0		ENST00000285968		ENSG00000155561	18658		96			HGNC	p.Q1754Q	rs529204058	NUP205	0.000366	SNV							ENST00000285968	protein_coding		A:0	hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344		Q		A		5288/6266				Q6P486_HUMAN,Q6DKH1_HUMAN	A:0	A:0	YES	NUP205,synonymous_variant,p.=,ENST00000285968,NM_015135.2;NUP205,3_prime_UTR_variant,,ENST00000477620,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,non_coding_transcript_exon_variant,,ENST00000461255,;		A:0.0002					LOW	5262/6039		NU205_HUMAN		A:0	Transcript			.	ENSP00000285968	4.94E-05	CCDS34759.1		A:0.001	1	
SVEP1	0	LGGM	GRCh37	9	113192201	113192201	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	13	29	.	.	ENST00000401783.2:c.5614A>T	p.Arg1872Trp	p.R1872W	ENST00000401783	NM_153366.3	1872	Agg/Tgg	0	1		UPI0000458920	0	getma.org/pdb.php?prot=SVEP1_HUMAN&from=1847&to=1900&var=R1872W	ENST00000374469		ENSG00000165124	15985		42	2.4		HGNC	p.R1872W		SVEP1		SNV							ENST00000401783	protein_coding	getma.org/?cm=var&var=hg19,9,113192201,T,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535		R/W		A	medium	5809/12194		getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=1847&re=1900&var=R1872W	deleterious(0.02)					SVEP1,missense_variant,p.Arg1872Trp,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Arg1849Trp,ENST00000374469,;SVEP1,upstream_gene_variant,,ENST00000297826,;							MODERATE	5545/10647	R1872W				Transcript		probably_damaging(0.951)	.	ENSP00000363593					1	
PCDHB1	0	LGGM	GRCh37	5	140432901	140432901	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	38	31	.	.	ENST00000306549.3:c.1846T>A	p.Phe616Ile	p.F616I	ENST00000306549	NM_013340.2	616	Ttt/Att	0	1	1	UPI000013EB56	0	NA	ENST00000306549		ENSG00000171815	8680		69	3.415		HGNC	p.F616I		PCDHB1		SNV							ENST00000306549	protein_coding	getma.org/?cm=var&var=hg19,5,140432901,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,SMART_domains:SM00112,Superfamily_domains:SSF49313		F/I		A	medium	1923/2534		getma.org/?cm=msa&ty=f&p=PCDB1_HUMAN&rb=577&re=664&var=F616I	deleterious(0)				YES	PCDHB1,missense_variant,p.Phe616Ile,ENST00000306549,NM_013340.2;							MODERATE	1846/2457	F616I	PCDB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000307234		CCDS4243.1			1	
BOC	0	LGGM	GRCh37	3	112991349	112991349	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	37	31	.	.	ENST00000495514.1:c.760G>A	p.Ala254Thr	p.A254T	ENST00000495514		254	Gcc/Acc	0	1		UPI0000072E0E	0	getma.org/pdb.php?prot=BOC_HUMAN&from=233&to=315&var=A254T	ENST00000355385		ENSG00000144857	17173		68	1.33		HGNC	p.A254T		BOC		SNV							ENST00000495514	protein_coding	getma.org/?cm=var&var=hg19,3,112991349,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/T		A	low	1099/4278		getma.org/?cm=msa&ty=f&p=BOC_HUMAN&rb=233&re=315&var=A254T	deleterious(0.04)	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,missense_variant,p.Ala254Thr,ENST00000495514,;BOC,missense_variant,p.Ala254Thr,ENST00000355385,NM_033254.2;BOC,missense_variant,p.Ala254Thr,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000498710,;BOC,upstream_gene_variant,,ENST00000497495,;BOC,downstream_gene_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,downstream_gene_variant,,ENST00000471963,;							MODERATE	760/3345	A254T	BOC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000347546		CCDS2971.1			1	
VEZF1	0	LGGM	GRCh37	17	56060211	56060211	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	30	31	.	.	ENST00000581208.1:c.577A>T	p.Lys193Ter	p.K193*	ENST00000581208	NM_007146.2	193	Aag/Tag	0	1	1	UPI000013D01B	0	NA	ENST00000581208		ENSG00000136451	12949		61	0		HGNC	p.K193X		VEZF1		SNV							ENST00000581208	protein_coding	getma.org/?cm=var&var=hg19,17,56060211,T,A&fts=all		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		K/*		A	NA	618/2321		NA					YES	VEZF1,stop_gained,p.Lys6Ter,ENST00000258963,;VEZF1,stop_gained,p.Lys184Ter,ENST00000584396,;VEZF1,stop_gained,p.Lys193Ter,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;							HIGH	577/1566	K193*	VEZF1_HUMAN			Transcript			.	ENSP00000462337		CCDS32687.1			1	
CBFB	0	LGGM	GRCh37	16	67070569	67070569	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	32	31	.	.	ENST00000412916.2:c.193T>G	p.Ser65Ala	p.S65A	ENST00000412916		65	Tct/Gct	0	1		UPI0000131555	0	getma.org/pdb.php?prot=PEBB_HUMAN&from=1&to=177&var=S65A	ENST00000290858		ENSG00000067955	1539		63	1.155		HGNC	p.S65A		CBFB		SNV			1				ENST00000290858	protein_coding	getma.org/?cm=var&var=hg19,16,67070569,T,G&fts=all		Superfamily_domains:0036041,Gene3D:1e50B00,Pfam_domain:PF02312,hmmpanther:PTHR10276,hmmpanther:PTHR10276:SF2		S/A		G	low	454/3136		getma.org/?cm=msa&ty=f&p=PEBB_HUMAN&rb=1&re=177&var=S65A	tolerated(0.29)	J3KS23_HUMAN,J3KRT0_HUMAN				CBFB,missense_variant,p.Ser65Ala,ENST00000290858,NM_001755.2,NM_022845.2;CBFB,missense_variant,p.Ser65Ala,ENST00000412916,;CBFB,5_prime_UTR_variant,,ENST00000561924,;CBFB,5_prime_UTR_variant,,ENST00000563939,;CBFB,intron_variant,,ENST00000565389,;CBFB,intron_variant,,ENST00000564034,;CBFB,non_coding_transcript_exon_variant,,ENST00000567947,;							MODERATE	193/549	S65A	PEBB_HUMAN			Transcript		benign(0.024)	.	ENSP00000290858		CCDS10827.1			1	
UBBP4	0	LGGM	GRCh37	17	21731315	21731315	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	75	32	.	.	ENST00000578713.1:c.504+113T>C		*168*	ENST00000578713				0	1	1	UPI000268AF41	0		ENST00000578713		ENSG00000263563	12467		107			HGNC	p.V206A	rs760650506	UBBP4	0.000242	SNV							ENST00000584755	protein_coding							C		-/821	1.50E-05			J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN			YES	UBBP4,missense_variant,p.Val206Ala,ENST00000584755,;UBBP4,3_prime_UTR_variant,,ENST00000583708,;UBBP4,intron_variant,,ENST00000578713,;UBBP4,intron_variant,,ENST00000581775,;UBBP4,downstream_gene_variant,,ENST00000581769,;UBBP4,downstream_gene_variant,,ENST00000584398,;							MODIFIER	-/690					Transcript			.	ENSP00000464265	4.12E-05				1	
ABLIM1	0	LGGM	GRCh37	10	116201503	116201503	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	32	.	.	ENST00000277895.5:c.1976A>G	p.Tyr659Cys	p.Y659C	ENST00000277895	NM_002313.5	659	tAt/tGt	0	1	1	UPI0000418D06	0	NA	ENST00000277895		ENSG00000099204	78		77	2.33		HGNC	p.Y727C		ABLIM1		SNV							ENST00000277895	protein_coding	getma.org/?cm=var&var=hg19,10,116201503,T,C&fts=all		hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213		Y/C		C	medium	2074/2657		getma.org/?cm=msa&ty=f&p=ABLM1_HUMAN&rb=540&re=739&var=Y659C	deleterious(0)				YES	ABLIM1,missense_variant,p.Tyr599Cys,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,missense_variant,p.Tyr599Cys,ENST00000533213,;ABLIM1,missense_variant,p.Tyr336Cys,ENST00000392952,NM_006720.3;ABLIM1,missense_variant,p.Tyr336Cys,ENST00000369266,;ABLIM1,missense_variant,p.Tyr659Cys,ENST00000277895,NM_002313.5;ABLIM1,missense_variant,p.Tyr282Cys,ENST00000369253,;ABLIM1,missense_variant,p.Tyr599Cys,ENST00000392955,;ABLIM1,missense_variant,p.Tyr629Cys,ENST00000369256,;ABLIM1,upstream_gene_variant,,ENST00000485570,;							MODERATE	1976/2337	Y659C	ABLM1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000277895		CCDS7590.1			1	
RTTN	0	LGGM	GRCh37	18	67760018	67760018	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	32	32	.	.	ENST00000255674.6:c.3926A>T	p.Glu1309Val	p.E1309V	ENST00000255674	NM_173630.3	1309	gAg/gTg	0	1	1	UPI0000201E92	0	NA	ENST00000255674		ENSG00000176225	18654		64	2.045		HGNC	p.E1309V		RTTN		SNV			1				ENST00000437017	protein_coding	getma.org/?cm=var&var=hg19,18,67760018,T,A&fts=all		hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691		E/V		A	medium	4213/7326		getma.org/?cm=msa&ty=f&p=RTTN_HUMAN&rb=2&re=2221&var=E1309V	deleterious(0)				YES	RTTN,missense_variant,p.Glu1309Val,ENST00000255674,NM_173630.3;RTTN,missense_variant,p.Glu1309Val,ENST00000437017,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,non_coding_transcript_exon_variant,,ENST00000581709,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;							MODERATE	3926/6681	E1309V	RTTN_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000255674		CCDS42443.1			1	
ARRDC5	0	LGGM	GRCh37	19	4902802	4902802	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	38	33	.	.	ENST00000381781.2:c.78C>T	p.Pro26=	p.P26=	ENST00000381781	NM_001080523.1	26	ccC/ccT	0	1	1	UPI0000DD84C9	0		ENST00000381781		ENSG00000205784	31407		71			HGNC	p.P26P	rs376349632	ARRDC5	6.06E-05	SNV	A:0.0003			0.000102			ENST00000381781	protein_coding			hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF56,Superfamily_domains:SSF81296		P	A:0	A		78/1638							YES	ARRDC5,synonymous_variant,p.=,ENST00000381781,NM_001080523.1;UHRF1,upstream_gene_variant,,ENST00000592666,;	0.000116						LOW	78/1029		ARRD5_HUMAN			Transcript			.	ENSP00000371200	2.48E-05	CCDS45929.1			1	
NUP98	0	LGGM	GRCh37	11	3789837	3789837	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	33	.	.	ENST00000324932.7:c.922A>T	p.Ile308Leu	p.I308L	ENST00000324932	NM_139132.3	308	Ata/Tta	0	1		UPI00015DFF4D	0	NA	ENST00000359171		ENSG00000110713	8068		78	-1.245		HGNC	p.I308L		NUP98		SNV							ENST00000397004	protein_coding	getma.org/?cm=var&var=hg19,11,3789837,T,A&fts=all		hmmpanther:PTHR23198:SF0,hmmpanther:PTHR23198		I/L		A	neutral	1343/6770		getma.org/?cm=msa&ty=f&p=NUP98_HUMAN&rb=263&re=726&var=I308L	tolerated(1)	Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,missense_variant,p.Ile308Leu,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,missense_variant,p.Ile308Leu,ENST00000359171,;NUP98,missense_variant,p.Ile308Leu,ENST00000355260,;NUP98,missense_variant,p.Ile308Leu,ENST00000397004,NM_139131.3;NUP98,missense_variant,p.Ile308Leu,ENST00000397007,NM_005387.5;NUP98,missense_variant,p.Ile26Leu,ENST00000397013,;							MODERATE	922/4917	I308L				Transcript		benign(0.001)	.	ENSP00000352091					1	
FAM83B	0	LGGM	GRCh37	6	54804821	54804821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	31	33	.	.	ENST00000306858.7:c.1052A>T	p.Tyr351Phe	p.Y351F	ENST00000306858	NM_001010872.2	351	tAt/tTt	0	1	1	UPI00001D81EC	0	NA	ENST00000306858		ENSG00000168143	21357		64	0.665		HGNC	p.Y351F		FAM83B		SNV							ENST00000306858	protein_coding	getma.org/?cm=var&var=hg19,6,54804821,A,T&fts=all		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4		Y/F		T	neutral	1168/3167		getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=296&re=475&var=Y351F	tolerated(0.28)				YES	FAM83B,missense_variant,p.Tyr351Phe,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;							MODERATE	1052/3036	Y351F	FA83B_HUMAN			Transcript		benign(0.004)	.	ENSP00000304078		CCDS34479.1			1	
FNDC7	0	LGGM	GRCh37	1	109275900	109275900	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	94	34	.	.	ENST00000370017.3:c.1886G>C	p.Cys629Ser	p.C629S	ENST00000370017	NM_001144937.1	629	tGc/tCc	0	1	1	UPI000187497A	0	NA	ENST00000370017		ENSG00000143107	26668		128	1.955		HGNC	p.C630S		FNDC7		SNV							ENST00000271311	protein_coding	getma.org/?cm=var&var=hg19,1,109275900,G,C&fts=all		PROSITE_profiles:PS50853		C/S		C	medium	2163/3332		getma.org/?cm=msa&ty=f&p=FNDC7_HUMAN&rb=593&re=733&var=C629S	deleterious(0)				YES	FNDC7,missense_variant,p.Cys629Ser,ENST00000370017,NM_001144937.1;FNDC7,missense_variant,p.Cys630Ser,ENST00000271311,;FNDC7,missense_variant,p.Cys405Ser,ENST00000445274,;RP11-293A10.3,downstream_gene_variant,,ENST00000437400,;							MODERATE	1886/2202	C629S	FNDC7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359034		CCDS44185.1			1	
UBASH3A	0	LGGM	GRCh37	21	43864685	43864685	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	49	34	.	.	ENST00000319294.6:c.1780T>A	p.Ser594Thr	p.S594T	ENST00000319294	NM_018961.3	594	Tcc/Acc	0	1	1	UPI0000137941	0	getma.org/pdb.php?prot=UBS3A_HUMAN&from=397&to=595&var=S594T	ENST00000319294		ENSG00000160185	12462		83	-0.245		HGNC	p.S556T		UBASH3A		SNV							ENST00000291535	protein_coding	getma.org/?cm=var&var=hg19,21,43864685,T,A&fts=all		hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF7,Pfam_domain:PF00300,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254		S/T		A	neutral	1811/2504		getma.org/?cm=msa&ty=f&p=UBS3A_HUMAN&rb=397&re=595&var=S594T	tolerated(0.23)				YES	UBASH3A,missense_variant,p.Ser594Thr,ENST00000319294,NM_018961.3;UBASH3A,missense_variant,p.Ser556Thr,ENST00000291535,NM_001001895.2;UBASH3A,intron_variant,,ENST00000398367,NM_001243467.1;UBASH3A,non_coding_transcript_exon_variant,,ENST00000473381,;							MODERATE	1780/1986	S594T	UBS3A_HUMAN			Transcript		benign(0.115)	.	ENSP00000317327		CCDS13687.1			1	
OBSL1	0	LGGM	GRCh37	2	220430172	220430172	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	67	34	.	.	ENST00000404537.1:c.2199G>T	p.Arg733=	p.R733=	ENST00000404537	NM_015311.2	733	cgG/cgT	0	1	1	UPI0000E07EA0	0		ENST00000404537		ENSG00000124006	29092		101			HGNC	p.R733R		OBSL1		SNV			1				ENST00000373876	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R		A		2256/5841							YES	OBSL1,synonymous_variant,p.=,ENST00000404537,NM_015311.2;OBSL1,synonymous_variant,p.=,ENST00000265318,;OBSL1,synonymous_variant,p.=,ENST00000603926,NM_001173431.1;OBSL1,synonymous_variant,p.=,ENST00000373876,;OBSL1,synonymous_variant,p.=,ENST00000373873,NM_001173408.1;OBSL1,synonymous_variant,p.=,ENST00000289656,;OBSL1,upstream_gene_variant,,ENST00000604031,;INHA,upstream_gene_variant,,ENST00000489456,;OBSL1,downstream_gene_variant,,ENST00000465589,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000462385,;							LOW	2199/5691		OBSL1_HUMAN			Transcript			.	ENSP00000385636		CCDS46520.1			1	
FBXO43	0	LGGM	GRCh37	8	101146571	101146571	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	61	34	.	.	ENST00000428847.2:c.1696G>T	p.Asp566Tyr	p.D566Y	ENST00000428847	NM_001029860.3	566	Gat/Tat	0	1	1	UPI000013DE8F	0	NA	ENST00000428847		ENSG00000156509	28521		95	2.28		HGNC	p.D566Y	rs755766663	FBXO43	6.07E-05	SNV							ENST00000428847	protein_coding	getma.org/?cm=var&var=hg19,8,101146571,C,A&fts=all		hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF1		D/Y		A	medium	2013/2886		getma.org/?cm=msa&ty=f&p=FBX43_HUMAN&rb=400&re=599&var=D566Y	deleterious(0)				YES	FBXO43,missense_variant,p.Asp566Tyr,ENST00000428847,NM_001029860.3;RGS22,upstream_gene_variant,,ENST00000520117,;FBXO43,3_prime_UTR_variant,,ENST00000517806,;FBXO43,downstream_gene_variant,,ENST00000520987,;							MODERATE	1696/2127	D566Y	FBX43_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000403293	8.27E-06	CCDS47904.1			1	
C12orf54	0	LGGM	GRCh37	12	48888683	48888683	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	61	35	.	.	ENST00000314014.2:c.345A>T	p.Thr115=	p.T115=	ENST00000314014	NM_152319.3	115	acA/acT	0	1	1	UPI000007267F	0		ENST00000314014		ENSG00000177627	28553		96			HGNC	p.T115T		C12orf54		SNV							ENST00000314014	protein_coding					T		T		476/887				H0YIT5_HUMAN			YES	C12orf54,synonymous_variant,p.=,ENST00000314014,NM_152319.3;C12orf54,synonymous_variant,p.=,ENST00000548364,;RP11-722P11.4,intron_variant,,ENST00000551847,;C12orf54,synonymous_variant,p.=,ENST00000549398,;C12orf54,3_prime_UTR_variant,,ENST00000380491,;C12orf54,non_coding_transcript_exon_variant,,ENST00000551266,;							LOW	345/384		CL054_HUMAN			Transcript			.	ENSP00000316898		CCDS8764.1			1	
NUDCD2	0	LGGM	GRCh37	5	162883998	162883998	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	51	36	.	.	ENST00000302764.4:c.327A>C	p.Ala109=	p.A109=	ENST00000302764	NM_145266.4	109	gcA/gcC	0	1	1	UPI0000071965	0		ENST00000302764		ENSG00000170584	30535		87			HGNC	p.A109A		NUDCD2		SNV							ENST00000302764	protein_coding			Gene3D:1.20.5.740,hmmpanther:PTHR12356,Superfamily_domains:SSF49764		A		G		417/8005							YES	NUDCD2,synonymous_variant,p.=,ENST00000302764,NM_145266.4;NUDCD2,synonymous_variant,p.=,ENST00000517501,;HMMR,upstream_gene_variant,,ENST00000393915,NM_001142556.1,NM_012484.2;HMMR,upstream_gene_variant,,ENST00000358715,;HMMR,upstream_gene_variant,,ENST00000353866,NM_012485.2;HMMR,upstream_gene_variant,,ENST00000432118,NM_001142557.1;HMMR,upstream_gene_variant,,ENST00000520345,;HMMR,upstream_gene_variant,,ENST00000522094,;NUDCD2,non_coding_transcript_exon_variant,,ENST00000519395,;NUDCD2,non_coding_transcript_exon_variant,,ENST00000521797,;HMMR,upstream_gene_variant,,ENST00000521108,;HMMR,upstream_gene_variant,,ENST00000517936,;							LOW	327/474		NUDC2_HUMAN			Transcript			.	ENSP00000304854		CCDS4361.1			1	
KIAA1024	0	LGGM	GRCh37	15	79750592	79750592	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	67	36	.	.	ENST00000305428.3:c.2103A>T	p.Lys701Asn	p.K701N	ENST00000305428	NM_015206.2	701	aaA/aaT	0	1	1	UPI00001B2F56	0	NA	ENST00000305428		ENSG00000169330	29172		103	2.175		HGNC	p.K701N		KIAA1024		SNV							ENST00000559272	protein_coding	getma.org/?cm=var&var=hg19,15,79750592,A,T&fts=all		hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2		K/N		T	medium	2178/6732		getma.org/?cm=msa&ty=f&p=K1024_HUMAN&rb=1&re=757&var=K701N	deleterious(0.05)				YES	KIAA1024,missense_variant,p.Lys701Asn,ENST00000305428,NM_015206.2;KIAA1024,missense_variant,p.Lys701Asn,ENST00000559272,;							MODERATE	2103/2751	K701N	K1024_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000307461		CCDS32306.1			1	
OR8K5	0	LGGM	GRCh37	11	55927462	55927462	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	66	37	.	.	ENST00000313447.1:c.332A>C	p.Glu111Ala	p.E111A	ENST00000313447	NM_001004058.2	111	gAa/gCa	0	1	1	UPI000004B231	0	NA	ENST00000313447		ENSG00000181752	15315		103	3.825		HGNC	p.E111A		OR8K5		SNV							ENST00000313447	protein_coding	getma.org/?cm=var&var=hg19,11,55927462,T,G&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		E/A		G	high	332/924		getma.org/?cm=msa&ty=f&p=OR8K5_HUMAN&rb=1&re=138&var=E111A	deleterious_low_confidence(0)				YES	OR8K5,missense_variant,p.Glu111Ala,ENST00000313447,NM_001004058.2;							MODERATE	332/924	E111A	OR8K5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000323853		CCDS31521.1			1	
LDHA	0	LGGM	GRCh37	11	18418456	18418456	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	66	37	.	.	ENST00000540430.1:c.154A>G	p.Ile52Val	p.I52V	ENST00000540430	NM_001165414.1	52	Att/Gtt	0	1		UPI000013C8AF	0	getma.org/pdb.php?prot=LDHA_HUMAN&from=21&to=161&var=I23V	ENST00000379412		ENSG00000134333	6535		103	0.15		HGNC	p.I23V	rs759849879	LDHA	6.07E-05	SNV			1				ENST00000495052	protein_coding	getma.org/?cm=var&var=hg19,11,18418456,A,G&fts=all		Prints_domain:PR00086,Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000102,Pfam_domain:PF00056,Gene3D:3.40.50.720,hmmpanther:PTHR11540,hmmpanther:PTHR11540:SF17,PROSITE_profiles:PS51257,HAMAP:MF_00488		I/V		G	neutral	424/1922		getma.org/?cm=msa&ty=f&p=LDHA_HUMAN&rb=21&re=161&var=I23V	tolerated(0.47)	F5H8H6_HUMAN,F5GZQ4_HUMAN,F5GXY2_HUMAN,F5GXH2_HUMAN				LDHA,missense_variant,p.Ile23Val,ENST00000422447,NM_005566.3,NM_001135239.1;LDHA,missense_variant,p.Ile52Val,ENST00000540430,NM_001165414.1;LDHA,missense_variant,p.Ile23Val,ENST00000379412,;LDHA,missense_variant,p.Ile23Val,ENST00000227157,NM_001165416.1;LDHA,missense_variant,p.Ile23Val,ENST00000396222,NM_001165415.1;LDHA,missense_variant,p.Ile23Val,ENST00000430553,;LDHA,missense_variant,p.Ile23Val,ENST00000542179,;LDHA,missense_variant,p.Ile23Val,ENST00000478970,;LDHA,missense_variant,p.Ile23Val,ENST00000495052,;LDHA,missense_variant,p.Ile23Val,ENST00000543445,;LDHA,missense_variant,p.Ile23Val,ENST00000535451,;LDHA,missense_variant,p.Ile23Val,ENST00000545215,;LDHA,missense_variant,p.Ile23Val,ENST00000486690,;LDHA,missense_variant,p.Ile23Val,ENST00000541097,;LDHA,missense_variant,p.Ile23Val,ENST00000545467,;LDHA,missense_variant,p.Ile23Val,ENST00000539814,;LDHA,missense_variant,p.Ile23Val,ENST00000543695,;LDHA,missense_variant,p.Ile23Val,ENST00000536528,;LDHA,non_coding_transcript_exon_variant,,ENST00000494573,;LDHA,non_coding_transcript_exon_variant,,ENST00000469976,;LDHA,upstream_gene_variant,,ENST00000375710,;LDHA,upstream_gene_variant,,ENST00000537296,;LDHA,upstream_gene_variant,,ENST00000460405,;							MODERATE	67/999	I23V	LDHA_HUMAN			Transcript		benign(0.013)	.	ENSP00000368722	8.24E-06	CCDS7839.1			1	
SPHKAP	0	LGGM	GRCh37	2	229046287	229046287	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	37	37	.	.	ENST00000392056.3:c.28C>A	p.Pro10Thr	p.P10T	ENST00000392056	NM_001142644.1	10	Cca/Aca	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		74	0.345		HGNC	p.P10T		SPHKAP		SNV							ENST00000392056	protein_coding	getma.org/?cm=var&var=hg19,2,229046287,G,T&fts=all				P/T		T	neutral	75/6917		getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=1&re=200&var=P10T	deleterious(0.04)				YES	SPHKAP,missense_variant,p.Pro10Thr,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Pro10Thr,ENST00000344657,NM_030623.3;							MODERATE	28/5103	P10T	SPKAP_HUMAN			Transcript		benign(0.113)	.	ENSP00000375909		CCDS46537.1			1	
RNF175	0	LGGM	GRCh37	4	154633662	154633662	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	21	38	.	.	ENST00000347063.4:c.831A>T	p.Lys277Asn	p.K277N	ENST00000347063	NM_173662.2	277	aaA/aaT	0	1	1	UPI0001AE7525	0	NA	ENST00000347063		ENSG00000145428	27735		59	0.84		HGNC	p.K277N		RNF175		SNV							ENST00000347063	protein_coding	getma.org/?cm=var&var=hg19,4,154633662,T,A&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR13407:SF2,hmmpanther:PTHR13407,Pfam_domain:PF13639,Gene3D:3.30.40.10,Superfamily_domains:SSF57850		K/N		A	low	1204/1604		getma.org/?cm=msa&ty=f&p=RN175_HUMAN&rb=225&re=279&var=K277N	tolerated(0.11)				YES	RNF175,missense_variant,p.Lys277Asn,ENST00000347063,NM_173662.2;RNF175,downstream_gene_variant,,ENST00000274068,;RNF175,3_prime_UTR_variant,,ENST00000513656,;RNF175,downstream_gene_variant,,ENST00000503694,;							MODERATE	831/987	K277N	RN175_HUMAN			Transcript		benign(0.007)	.	ENSP00000340979		CCDS47149.1			1	
OR2W3	0	LGGM	GRCh37	1	248059176	248059176	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	68	38	.	.	ENST00000537741.1:c.288C>A	p.Gly96=	p.G96=	ENST00000537741		96	ggC/ggA	0	1		UPI0000061EA8	0		ENST00000360358		ENSG00000238243	15021		106			HGNC	p.G96G		OR2W3		SNV							ENST00000537741	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		G		A		288/945								OR2W3,synonymous_variant,p.=,ENST00000537741,;OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;							LOW	288/945		OR2W3_HUMAN			Transcript			.	ENSP00000353516		CCDS31099.1			1	
GJA8	0	LGGM	GRCh37	1	147380301	147380301	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	10	39	.	.	ENST00000240986.4:c.219C>G	p.Ser73=	p.S73=	ENST00000240986	NM_005267.4	73	tcC/tcG	0	1		UPI0000049BA0	0		ENST00000369235		ENSG00000121634	4281		49			HGNC	p.S73S		GJA8		SNV			1				ENST00000240986	protein_coding			Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF19,SMART_domains:SM00037		S		G		219/1302								GJA8,synonymous_variant,p.=,ENST00000240986,NM_005267.4;GJA8,synonymous_variant,p.=,ENST00000369235,;							LOW	219/1302		CXA8_HUMAN			Transcript			.	ENSP00000358238		CCDS30834.1			1	
TBATA	0	LGGM	GRCh37	10	72541740	72541740	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	48	39	.	.	ENST00000299290.1:c.94C>G	p.Pro32Ala	p.P32A	ENST00000299290	NM_152710.2	32	Ccc/Gcc	0	1	1	UPI000013E57C	0	NA	ENST00000299290		ENSG00000166220	23511		87	0		HGNC	p.P32A		TBATA		SNV							ENST00000456372	protein_coding	getma.org/?cm=var&var=hg19,10,72541740,G,C&fts=all				P/A		C	neutral	484/1583		getma.org/?cm=msa&ty=f&p=SPATL_HUMAN&rb=1&re=321&var=P32A	tolerated_low_confidence(0.18)				YES	TBATA,missense_variant,p.Pro32Ala,ENST00000299290,NM_152710.2;TBATA,missense_variant,p.Pro22Ala,ENST00000545575,;TBATA,missense_variant,p.Pro32Ala,ENST00000456372,;							MODERATE	94/1056	P32A	TBATA_HUMAN			Transcript		benign(0.026)	.	ENSP00000299290		CCDS7308.1			1	
TTN	0	LGGM	GRCh37	2	179494063	179494063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	65	40	.	.	ENST00000589042.1:c.44389T>A	p.Tyr14797Asn	p.Y14797N	ENST00000589042	NM_001267550.1	14797	Tat/Aat	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=13124&to=13203&var=Y13156N	ENST00000591111		ENSG00000155657	12403		105	2.245		HGNC	p.Y12229N		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179494063,A,T&fts=all		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		Y/N		T	medium	39691/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=13124&re=13203&var=Y13156N		C9JQJ2_HUMAN				TTN,missense_variant,p.Tyr14797Asn,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Tyr13156Asn,ENST00000591111,;TTN,missense_variant,p.Tyr12229Asn,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Tyr5924Asn,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Tyr5857Asn,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Tyr5732Asn,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,;							MODERATE	39466/103053	Y13156N	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ARMC3	0	LGGM	GRCh37	10	23292311	23292311	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	46	40	.	.	ENST00000298032.5:c.1699A>T	p.Ile567Leu	p.I567L	ENST00000298032	NM_173081.3	567	Ata/Tta	0	1	1	UPI0000161785	0	NA	ENST00000298032		ENSG00000165309	30964		86	1.4		HGNC	p.I503L		ARMC3		SNV							ENST00000376523	protein_coding	getma.org/?cm=var&var=hg19,10,23292311,A,T&fts=all		hmmpanther:PTHR23315:SF48,hmmpanther:PTHR23315		I/L		T	low	1783/2811		getma.org/?cm=msa&ty=f&p=ARMC3_HUMAN&rb=505&re=619&var=I567L	tolerated(0.13)	C9JC46_HUMAN,B4DXS3_HUMAN			YES	ARMC3,missense_variant,p.Ile567Leu,ENST00000298032,NM_173081.3;ARMC3,missense_variant,p.Ile567Leu,ENST00000409983,NM_001282745.1;ARMC3,missense_variant,p.Ile567Leu,ENST00000409049,NM_001282746.1;ARMC3,missense_variant,p.Ile304Leu,ENST00000376528,NM_001282747.1;ARMC3,upstream_gene_variant,,ENST00000491803,;							MODERATE	1699/2619	I567L	ARMC3_HUMAN			Transcript		benign(0.02)	.	ENSP00000298032		CCDS7142.1			1	
ZNF215	0	LGGM	GRCh37	11	6953622	6953622	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	65	41	.	.	ENST00000278319.5:c.119A>T	p.Glu40Val	p.E40V	ENST00000278319	NM_013250.2	40	gAg/gTg	0	1	1	UPI000013DB6D	0	NA	ENST00000278319		ENSG00000149054	13007		106	0.895		HGNC	p.E40V	COSM3452638	ZNF215		SNV						1	ENST00000529903	protein_coding	getma.org/?cm=var&var=hg19,11,6953622,A,T&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65		E/V		T	low	707/3448		getma.org/?cm=msa&ty=f&p=ZN215_HUMAN&rb=1&re=41&var=E40V	deleterious(0)				YES	ZNF215,missense_variant,p.Glu40Val,ENST00000278319,NM_013250.2;ZNF215,missense_variant,p.Glu40Val,ENST00000414517,;ZNF215,missense_variant,p.Glu40Val,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000527171,;ZNF215,non_coding_transcript_exon_variant,,ENST00000529755,;					1		MODERATE	119/1554	E40V	ZN215_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000278319		CCDS7775.1			1	
TTN	0	LGGM	GRCh37	2	179402397	179402397	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	85	41	.	.	ENST00000589042.1:c.99537T>A	p.Val33179=	p.V33179=	ENST00000589042	NM_001267550.1	33179	gtT/gtA	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		126			HGNC	p.V30611V		TTN		SNV			1				ENST00000342992	protein_coding			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		V		T		94839/104301				C9JQJ2_HUMAN				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,,ENST00000589434,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000589391,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592689,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000585358,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000585487,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592182,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588244,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000450692,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588804,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592630,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588716,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592836,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000415561,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000442329,;TTN-AS1,downstream_gene_variant,,ENST00000588257,;TTN-AS1,downstream_gene_variant,,ENST00000591466,;TTN-AS1,downstream_gene_variant,,ENST00000591867,;TTN-AS1,upstream_gene_variant,,ENST00000590932,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000589842,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;							LOW	94614/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FCAR	0	LGGM	GRCh37	19	55401134	55401134	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	87	41	.	.	ENST00000355524.3:c.769A>T	p.Lys257Ter	p.K257*	ENST00000355524	NM_002000.2	257	Aag/Tag	0	1	1	UPI000011B429	0	NA	ENST00000355524		ENSG00000186431	3608		128	0		HGNC	p.K257X		FCAR		SNV							ENST00000355524	protein_coding	getma.org/?cm=var&var=hg19,19,55401134,A,T&fts=all		hmmpanther:PTHR11738:SF4,hmmpanther:PTHR11738		K/*		T	NA	779/1483		NA		A5Y2F0_HUMAN			YES	FCAR,stop_gained,p.Lys257Ter,ENST00000355524,NM_002000.2;FCAR,stop_gained,p.Lys235Ter,ENST00000391725,NM_133269.2;FCAR,stop_gained,p.Lys245Ter,ENST00000359272,NM_133272.2;FCAR,stop_gained,p.Lys223Ter,ENST00000391724,NM_133278.2;FCAR,stop_gained,p.Lys149Ter,ENST00000391726,NM_133273.2;FCAR,stop_gained,p.Lys161Ter,ENST00000345937,NM_133271.2;FCAR,stop_gained,p.Lys148Ter,ENST00000353758,NM_133277.2;FCAR,3_prime_UTR_variant,,ENST00000391723,NM_133274.2;FCAR,downstream_gene_variant,,ENST00000469767,NM_133279.2;CTB-61M7.2,upstream_gene_variant,,ENST00000594721,;FCAR,non_coding_transcript_exon_variant,,ENST00000482092,;FCAR,non_coding_transcript_exon_variant,,ENST00000471750,;FCAR,non_coding_transcript_exon_variant,,ENST00000472634,;FCAR,downstream_gene_variant,,ENST00000488066,;							HIGH	769/864	K257*	FCAR_HUMAN			Transcript			.	ENSP00000347714		CCDS12907.1			1	
OR52E4	0	LGGM	GRCh37	11	5906093	5906093	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	62	42	.	.	ENST00000316987.2:c.571T>A	p.Cys191Ser	p.C191S	ENST00000316987	NM_001005165.1	191	Tgt/Agt	0	1	1	UPI0000041BE2	0	NA	ENST00000316987		ENSG00000180974	15213		104	3.265		HGNC	p.C191S		OR52E4		SNV							ENST00000316987	protein_coding	getma.org/?cm=var&var=hg19,11,5906093,T,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF13,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		C/S		A	medium	593/1027		getma.org/?cm=msa&ty=f&p=O52E4_HUMAN&rb=141&re=286&var=C191S	deleterious(0)				YES	OR52E4,missense_variant,p.Cys191Ser,ENST00000316987,NM_001005165.1;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	571/939	C191S	O52E4_HUMAN			Transcript		benign(0.19)	.	ENSP00000321426		CCDS31401.1			1	
KATNAL1	0	LGGM	GRCh37	13	30801578	30801578	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	45	42	.	.	ENST00000380615.3:c.1118A>T	p.Glu373Val	p.E373V	ENST00000380615	NM_032116.4	373	gAa/gTa	0	1	1	UPI000006F05B	0	getma.org/pdb.php?prot=KATL1_HUMAN&from=244&to=380&var=E373V	ENST00000380615		ENSG00000102781	28361		87	2.16		HGNC	p.E373V		KATNAL1		SNV							ENST00000380617	protein_coding	getma.org/?cm=var&var=hg19,13,30801578,T,A&fts=all		Gene3D:3.40.50.300,HAMAP:MF_03023,HAMAP:MF_03024,Pfam_domain:PF00004,hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF65,SMART_domains:SM00382,Superfamily_domains:SSF52540		E/V		A	medium	1286/7551		getma.org/?cm=msa&ty=f&p=KATL1_HUMAN&rb=244&re=380&var=E373V	deleterious(0)	Q5T558_HUMAN,A2A3H2_HUMAN			YES	KATNAL1,missense_variant,p.Glu373Val,ENST00000380615,NM_032116.4;KATNAL1,missense_variant,p.Glu373Val,ENST00000380617,NM_001014380.2;							MODERATE	1118/1473	E373V	KATL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369989		CCDS31956.1			1	
CHD1	0	LGGM	GRCh37	5	98235381	98235381	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	102	42	.	.	ENST00000284049.3:c.888A>G	p.Ala296=	p.A296=	ENST00000284049	NM_001270.2	296	gcA/gcG	0	1	1	UPI000013DD75	0		ENST00000284049		ENSG00000153922	1915		144			HGNC	p.A296A		CHD1		SNV							ENST00000284049	protein_coding			Superfamily_domains:SSF54160,SMART_domains:SM00298,Gene3D:2.40.50.40,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS50013		A		C		1038/5918							YES	CHD1,synonymous_variant,p.=,ENST00000284049,NM_001270.2;							LOW	888/5133		CHD1_HUMAN			Transcript			.	ENSP00000284049		CCDS34204.1			1	
POLR2G	0	LGGM	GRCh37	11	62529371	62529371	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	52	43	.	.	ENST00000301788.7:c.117A>T	p.Thr39=	p.T39=	ENST00000301788	NM_002696.2	39	acA/acT	0	1	1	UPI000002926B	0		ENST00000301788		ENSG00000168002	9194		95			HGNC	p.T39T		POLR2G		SNV							ENST00000524819	protein_coding			Gene3D:3.30.1490.120,Pfam_domain:PF03876,hmmpanther:PTHR12709,hmmpanther:PTHR12709:SF4,Superfamily_domains:SSF88798		T		T		222/827				E9PIU7_HUMAN			YES	POLR2G,synonymous_variant,p.=,ENST00000301788,NM_002696.2;POLR2G,5_prime_UTR_variant,,ENST00000533442,;POLR2G,synonymous_variant,p.=,ENST00000531944,;POLR2G,synonymous_variant,p.=,ENST00000524819,;POLR2G,synonymous_variant,p.=,ENST00000525455,;POLR2G,synonymous_variant,p.=,ENST00000531996,;POLR2G,non_coding_transcript_exon_variant,,ENST00000527435,;POLR2G,upstream_gene_variant,,ENST00000526368,;							LOW	117/519		RPB7_HUMAN			Transcript			.	ENSP00000301788		CCDS31585.1			1	
SEMA6A	0	LGGM	GRCh37	5	115813841	115813841	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	62	43	.	.	ENST00000343348.6:c.1437T>A	p.Tyr479Ter	p.Y479*	ENST00000343348	NM_020796.3	479	taT/taA	0	1	1	UPI000020C463	0	NA	ENST00000343348		ENSG00000092421	10738		105	0		HGNC	p.Y479X		SEMA6A		SNV							ENST00000257414	protein_coding	getma.org/?cm=var&var=hg19,5,115813841,A,T&fts=all		Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036,PROSITE_profiles:PS51004		Y/*		T	NA	2225/6878		NA		D6RCR0_HUMAN,D6RAG9_HUMAN			YES	SEMA6A,stop_gained,p.Tyr479Ter,ENST00000343348,NM_020796.3;SEMA6A,stop_gained,p.Tyr479Ter,ENST00000257414,;SEMA6A,stop_gained,p.Tyr479Ter,ENST00000510263,;SEMA6A,stop_gained,p.Tyr49Ter,ENST00000515129,;SEMA6A,stop_gained,p.Tyr11Ter,ENST00000282394,;CTB-118N6.3,intron_variant,,ENST00000514214,;CTB-118N6.3,intron_variant,,ENST00000508640,;CTB-118N6.3,intron_variant,,ENST00000510682,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000506114,;SEMA6A,downstream_gene_variant,,ENST00000514316,;SEMA6A,downstream_gene_variant,,ENST00000503402,;							HIGH	1437/3093	Y479*	SEM6A_HUMAN			Transcript			.	ENSP00000345512		CCDS47256.1			1	
GPR160	0	LGGM	GRCh37	3	169801845	169801845	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	38	44	.	.	ENST00000355897.5:c.85T>C	p.Phe29Leu	p.F29L	ENST00000355897	NM_014373.2	29	Ttc/Ctc	0	1	1	UPI0000033731	0	NA	ENST00000355897		ENSG00000173890	23693		82	-0.345		HGNC	p.F29L		GPR160		SNV							ENST00000482710	protein_coding	getma.org/?cm=var&var=hg19,3,169801845,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15573,Gene3D:1.20.1070.10		F/L		C	neutral	693/2039		getma.org/?cm=msa&ty=f&p=GP160_HUMAN&rb=1&re=291&var=F29L	tolerated(0.96)	C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN			YES	GPR160,missense_variant,p.Phe29Leu,ENST00000355897,NM_014373.2;GPR160,missense_variant,p.Phe29Leu,ENST00000492492,;GPR160,missense_variant,p.Phe29Leu,ENST00000473675,;GPR160,missense_variant,p.Phe29Leu,ENST00000482710,;GPR160,missense_variant,p.Phe29Leu,ENST00000485735,;PHC3,downstream_gene_variant,,ENST00000495893,NM_024947.3;PHC3,downstream_gene_variant,,ENST00000484068,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;							MODERATE	85/1017	F29L	GP160_HUMAN			Transcript		benign(0.009)	.	ENSP00000348161		CCDS3211.1			1	
TRIML1	0	LGGM	GRCh37	4	189068287	189068287	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	10	46	.	.	ENST00000332517.3:c.1168T>A	p.Trp390Arg	p.W390R	ENST00000332517	NM_178556.3	390	Tgg/Agg	0	1	1	UPI000006FC8A	0	getma.org/pdb.php?prot=TRIML_HUMAN&from=338&to=456&var=W390R	ENST00000332517		ENSG00000184108	26698		56	1.52		HGNC	p.W390R		TRIML1		SNV							ENST00000332517	protein_coding	getma.org/?cm=var&var=hg19,4,189068287,T,A&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,SMART_domains:SM00449,Superfamily_domains:SSF49899		W/R		A	low	1308/1797		getma.org/?cm=msa&ty=f&p=TRIML_HUMAN&rb=338&re=456&var=W390R	tolerated(0.06)				YES	TRIML1,missense_variant,p.Trp390Arg,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,;							MODERATE	1168/1407	W390R	TRIML_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000327738		CCDS3851.1			1	
TTC18	0	LGGM	GRCh37	10	75034282	75034282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	81	47	.	.	ENST00000310715.3:c.2954G>T	p.Cys985Phe	p.C985F	ENST00000310715	NM_145170.3	985	tGc/tTc	0	1	1	UPI00001AEF7A	0	NA	ENST00000310715		ENSG00000156042	30726		128	1.895		HGNC	p.C985F		TTC18		SNV							ENST00000394865	protein_coding	getma.org/?cm=var&var=hg19,10,75034282,C,A&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF361,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		C/F		A	low	3075/3703		getma.org/?cm=msa&ty=f&p=TTC18_HUMAN&rb=963&re=992&var=C985F	deleterious(0.03)				YES	TTC18,missense_variant,p.Cys985Phe,ENST00000401621,;TTC18,missense_variant,p.Cys985Phe,ENST00000310715,NM_145170.3;TTC18,missense_variant,p.Cys454Phe,ENST00000355577,;TTC18,missense_variant,p.Cys985Phe,ENST00000394865,;TTC18,missense_variant,p.Cys392Phe,ENST00000433268,;TTC18,missense_variant,p.Cys225Phe,ENST00000340329,;RNU6-833P,upstream_gene_variant,,ENST00000363486,;DNAJC9-AS1,non_coding_transcript_exon_variant,,ENST00000440197,;TTC18,non_coding_transcript_exon_variant,,ENST00000493787,;TTC18,non_coding_transcript_exon_variant,,ENST00000495161,;TTC18,non_coding_transcript_exon_variant,,ENST00000462684,;							MODERATE	2954/3366	C985F				Transcript		probably_damaging(0.996)	.	ENSP00000310829		CCDS7324.3			1	
CD38	0	LGGM	GRCh37	4	15841742	15841742	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	23	48	.	.	ENST00000226279.3:c.752+1G>A		p.X251_splice	ENST00000226279	NM_001775.2			0	1	1	UPI00000739C2	0		ENST00000226279		ENSG00000004468	1667		71			HGNC	-		CD38		SNV							ENST00000502843	protein_coding							A		-/5668				Q4FCX6_HUMAN,B4DMR7_HUMAN			YES	CD38,splice_donor_variant,,ENST00000226279,NM_001775.2;CD38,splice_donor_variant,,ENST00000510674,;CD38,splice_donor_variant,,ENST00000502843,;							HIGH	752/903		CD38_HUMAN			Transcript			.	ENSP00000226279		CCDS3417.1			1	
KCND2	0	LGGM	GRCh37	7	119914811	119914811	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	85	49	.	.	ENST00000331113.4:c.125T>A	p.Leu42His	p.L42H	ENST00000331113	NM_012281.2	42	cTc/cAc	0	1	1	UPI0000073D37	0	getma.org/pdb.php?prot=KCND2_HUMAN&from=32&to=42&var=L42H	ENST00000331113		ENSG00000184408	6238		134	1.975		HGNC	p.L42H		KCND2		SNV							ENST00000331113	protein_coding	getma.org/?cm=var&var=hg19,7,119914811,T,A&fts=all		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF86,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695,Prints_domain:PR01517		L/H		A	medium	1090/5331		getma.org/?cm=msa&ty=f&p=KCND2_HUMAN&rb=2&re=72&var=L42H	tolerated(0.09)	A4D0V9_HUMAN,Q75LS7_HUMAN			YES	KCND2,missense_variant,p.Leu42His,ENST00000331113,NM_012281.2;							MODERATE	125/1893	L42H	KCND2_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000333496		CCDS5776.1			1	
ZFR	0	LGGM	GRCh37	5	32403306	32403306	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	81	49	.	.	ENST00000265069.8:c.1421A>T	p.Asn474Ile	p.N474I	ENST00000265069	NM_016107.3	474	aAc/aTc	0	1	1	UPI00001BBB38	0	NA	ENST00000265069		ENSG00000056097	17277		130	0.69		HGNC	p.N474I		ZFR		SNV			1				ENST00000265069	protein_coding	getma.org/?cm=var&var=hg19,5,32403306,T,A&fts=all		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87,Low_complexity_(Seg):seg		N/I		A	neutral	1524/4738		getma.org/?cm=msa&ty=f&p=ZFR_HUMAN&rb=407&re=581&var=N474I	tolerated(0.18)	B3KP82_HUMAN			YES	ZFR,missense_variant,p.Asn474Ile,ENST00000265069,NM_016107.3;ZFR,downstream_gene_variant,,ENST00000505366,;							MODERATE	1421/3225	N474I	ZFR_HUMAN			Transcript		unknown(0)	.	ENSP00000265069		CCDS34139.1			1	
LANCL1	0	LGGM	GRCh37	2	211306100	211306100	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	76	50	.	.	ENST00000443314.1:c.475A>T	p.Ile159Phe	p.I159F	ENST00000443314		159	Atc/Ttc	0	1		UPI0000073D7C	0	getma.org/pdb.php?prot=LANC1_HUMAN&from=55&to=399&var=I159F	ENST00000233714		ENSG00000115365	6508		126	1.04		HGNC	p.I159F		LANCL1		SNV							ENST00000443314	protein_coding	getma.org/?cm=var&var=hg19,2,211306100,T,A&fts=all		hmmpanther:PTHR12736:SF5,hmmpanther:PTHR12736,Pfam_domain:PF05147,Superfamily_domains:0053930,Prints_domain:PR01950		I/F		A	low	550/1647		getma.org/?cm=msa&ty=f&p=LANC1_HUMAN&rb=55&re=399&var=I159F	deleterious(0)	Q53TN2_HUMAN,E9PHS0_HUMAN				LANCL1,missense_variant,p.Ile159Phe,ENST00000443314,;LANCL1,missense_variant,p.Ile159Phe,ENST00000450366,NM_006055.2,NM_001136574.1;LANCL1,missense_variant,p.Ile159Phe,ENST00000441020,NM_001136575.1;LANCL1,missense_variant,p.Ile159Phe,ENST00000233714,;LANCL1,missense_variant,p.Ile159Phe,ENST00000431941,;LANCL1,missense_variant,p.Ile159Phe,ENST00000448951,;LANCL1,upstream_gene_variant,,ENST00000412863,;AC007970.1,intron_variant,,ENST00000433296,;AC007970.1,intron_variant,,ENST00000420418,;							MODERATE	475/1200	I159F	LANC1_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000233714		CCDS2392.1			1	
LRBA	0	LGGM	GRCh37	4	151203704	151203704	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	15	51	.	.	ENST00000357115.3:c.8247A>T	p.Ser2749=	p.S2749=	ENST00000357115	NM_006726.4	2749	tcA/tcT	0	1	1	UPI000013E35C	0		ENST00000357115		ENSG00000198589	1742		66			HGNC	p.S2749S		LRBA		SNV			1				ENST00000357115	protein_coding			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		S		A		8491/9899				Q7KZN3_HUMAN			YES	LRBA,synonymous_variant,p.=,ENST00000535741,;LRBA,synonymous_variant,p.=,ENST00000510413,NM_001199282.2;LRBA,synonymous_variant,p.=,ENST00000357115,NM_006726.4;LRBA,synonymous_variant,p.=,ENST00000509835,;LRBA,synonymous_variant,p.=,ENST00000508606,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;LRBA,non_coding_transcript_exon_variant,,ENST00000515096,;LRBA,non_coding_transcript_exon_variant,,ENST00000510157,;							LOW	8247/8592		LRBA_HUMAN			Transcript			.	ENSP00000349629		CCDS3773.1			1	
MUC16	0	LGGM	GRCh37	19	9068341	9068341	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	74	53	.	.	ENST00000397910.4:c.19105A>T	p.Arg6369Trp	p.R6369W	ENST00000397910	NM_024690.2	6369	Agg/Tgg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		127	1.445		HGNC	p.R6369W		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9068341,T,A&fts=all				R/W		A	low	19309/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5680&re=6717&var=R6371W		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Arg6369Trp,ENST00000397910,NM_024690.2;							MODERATE	19105/43524	R6371W				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
ABCA13	0	LGGM	GRCh37	7	48311622	48311622	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050401	H050401N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	78	54	.	.	ENST00000435803.1:c.2359G>T	p.Ala787Ser	p.A787S	ENST00000435803	NM_152701.3	787	Gcc/Tcc	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		132	0.46		HGNC	p.A787S		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48311622,G,T&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		A/S		T	neutral	2383/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=601&re=800&var=A787S					YES	ABCA13,missense_variant,p.Ala787Ser,ENST00000435803,NM_152701.3;ABCA13,3_prime_UTR_variant,,ENST00000417403,;							MODERATE	2359/15177	A787S	ABCAD_HUMAN			Transcript		benign(0.01)	.	ENSP00000411096		CCDS47584.1			1	
OR5K2	0	LGGM	GRCh37	3	98216888	98216888	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	80	55	.	.	ENST00000427338.1:c.364C>T	p.Arg122Cys	p.R122C	ENST00000427338	NM_001004737.1	122	Cgc/Tgc	0	1	1	UPI000004B1DF	0	getma.org/pdb.php?prot=OR5K2_HUMAN&from=1&to=138&var=R122C	ENST00000427338		ENSG00000231861	14774		135	2.88		HGNC	p.R122C	rs755600607,COSM290384	OR5K2		SNV				0.000193		0,1	ENST00000427338	protein_coding	getma.org/?cm=var&var=hg19,3,98216888,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321		R/C		T	medium	441/1049	3.00E-05	getma.org/?cm=msa&ty=f&p=OR5K2_HUMAN&rb=1&re=138&var=R122C	deleterious(0.01)				YES	OR5K2,missense_variant,p.Arg122Cys,ENST00000427338,NM_001004737.1;CLDND1,3_prime_UTR_variant,,ENST00000502288,;CLDND1,downstream_gene_variant,,ENST00000507874,;					0,1		MODERATE	364/951	R122C	OR5K2_HUMAN			Transcript		benign(0.181)	.	ENSP00000393889	3.29E-05	CCDS33804.1			1	
NFYB	0	LGGM	GRCh37	12	104514203	104514203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	88	58	.	.	ENST00000240055.3:c.566T>A	p.Met189Lys	p.M189K	ENST00000240055	NM_006166.3	189	aTg/aAg	0	1	1	UPI0000127178	0	NA	ENST00000240055		ENSG00000120837	7805		146	2.125		HGNC	p.M189K		NFYB		SNV							ENST00000240055	protein_coding	getma.org/?cm=var&var=hg19,12,104514203,A,T&fts=all		hmmpanther:PTHR11064:SF24,hmmpanther:PTHR11064,Gene3D:1.10.20.10		M/K		T	medium	794/3512		getma.org/?cm=msa&ty=f&p=NFYB_HUMAN&rb=123&re=207&var=M189K	tolerated(0.08)				YES	NFYB,missense_variant,p.Met189Lys,ENST00000240055,NM_006166.3;NFYB,missense_variant,p.Met189Lys,ENST00000551727,;NFYB,downstream_gene_variant,,ENST00000551446,;RNA5SP370,upstream_gene_variant,,ENST00000362545,;NFYB,downstream_gene_variant,,ENST00000550189,;							MODERATE	566/624	M189K	NFYB_HUMAN			Transcript		benign(0.001)	.	ENSP00000240055		CCDS9098.1			1	
OR2Y1	0	LGGM	GRCh37	5	180166432	180166432	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	95	59	.	.	ENST00000307832.2:c.627T>A	p.Pro209=	p.P209=	ENST00000307832	NM_001001657.1	209	ccT/ccA	0	1	1	UPI0000041BCE	0		ENST00000307832		ENSG00000174339	14837		154			HGNC	p.P209P		OR2Y1		SNV							ENST00000307832	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		P		T		668/1058							YES	OR2Y1,synonymous_variant,p.=,ENST00000307832,NM_001001657.1;							LOW	627/936		OR2Y1_HUMAN			Transcript			.	ENSP00000312403		CCDS34323.1			1	
TMC3	0	LGGM	GRCh37	15	81664939	81664939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	109	61	.	.	ENST00000359440.5:c.229G>T	p.Ala77Ser	p.A77S	ENST00000359440	NM_001080532.1	77	Gca/Tca	0	1	1	UPI00006C154A	0	NA	ENST00000359440		ENSG00000188869	22995		170	0		HGNC	p.A77S		TMC3		SNV							ENST00000558726	protein_coding	getma.org/?cm=var&var=hg19,15,81664939,C,A&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF35		A/S		A	neutral	365/4641		getma.org/?cm=msa&ty=f&p=TMC3_HUMAN&rb=1&re=200&var=A77S	tolerated(0.12)				YES	TMC3,missense_variant,p.Ala77Ser,ENST00000558726,;TMC3,missense_variant,p.Ala77Ser,ENST00000359440,NM_001080532.1;TMC3,non_coding_transcript_exon_variant,,ENST00000559982,;							MODERATE	229/3303	A77S	TMC3_HUMAN			Transcript		benign(0.058)	.	ENSP00000352413		CCDS45324.1			1	
SCN8A	0	LGGM	GRCh37	12	52056665	52056665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050401	H050401N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	70	63	.	.	ENST00000354534.6:c.64C>A	p.Leu22Met	p.L22M	ENST00000354534	NM_014191.3	22	Ctg/Atg	0	1	1	UPI000006FD85	0	NA	ENST00000354534		ENSG00000196876	10596		133	3.79		HGNC	p.L22M		SCN8A		SNV			1				ENST00000550891	protein_coding	getma.org/?cm=var&var=hg19,12,52056665,C,A&fts=all				L/M		A	high	242/11556		getma.org/?cm=msa&ty=f&p=SCN8A_HUMAN&rb=1&re=159&var=L22M	deleterious(0)	Q9P2Q6_HUMAN,Q8WWN3_HUMAN			YES	SCN8A,missense_variant,p.Leu22Met,ENST00000354534,NM_014191.3,NM_001177984.2;SCN8A,missense_variant,p.Leu22Met,ENST00000545061,;SCN8A,missense_variant,p.Leu22Met,ENST00000355133,;SCN8A,missense_variant,p.Leu22Met,ENST00000550891,;SCN8A,downstream_gene_variant,,ENST00000546961,;							MODERATE	64/5943	L22M	SCN8A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000346534		CCDS44891.1			1	
OR10A7	0	LGGM	GRCh37	12	55615097	55615097	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	82	63	.	.	ENST00000326258.1:c.289T>A	p.Cys97Ser	p.C97S	ENST00000326258	NM_001005280.1	97	Tgt/Agt	0	1	1	UPI0000041E35	0	getma.org/pdb.php?prot=O10A7_HUMAN&from=1&to=138&var=C97S	ENST00000326258		ENSG00000179919	15329		145	4.155		HGNC	p.C97S		OR10A7		SNV							ENST00000326258	protein_coding	getma.org/?cm=var&var=hg19,12,55615097,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF22,Superfamily_domains:SSF81321		C/S		A	high	289/951		getma.org/?cm=msa&ty=f&p=O10A7_HUMAN&rb=1&re=138&var=C97S	deleterious(0)				YES	OR10A7,missense_variant,p.Cys97Ser,ENST00000326258,NM_001005280.1;							MODERATE	289/951	C97S	O10A7_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000326718		CCDS31815.1			1	
MARK1	0	LGGM	GRCh37	1	220835362	220835362	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	47	66	.	.	ENST00000366917.4:c.2242A>T	p.Arg748Ter	p.R748*	ENST00000366917	NM_001286124.1	748	Aga/Tga	0	1	1	UPI0000048D8B	0	NA	ENST00000366917		ENSG00000116141	6896		113	0		HGNC	p.R748X		MARK1		SNV							ENST00000366917	protein_coding	getma.org/?cm=var&var=hg19,1,220835362,A,T&fts=all		Superfamily_domains:SSF103243,Gene3D:3.30.310.80,hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346,PROSITE_profiles:PS50032		R/*		T	NA	2508/2946		NA		B4DIB3_HUMAN			YES	MARK1,stop_gained,p.Arg598Ter,ENST00000402574,NM_018650.3,NM_001286126.1;MARK1,stop_gained,p.Arg711Ter,ENST00000366918,NM_001286128.1;MARK1,stop_gained,p.Arg748Ter,ENST00000366917,NM_001286124.1;RP11-322F10.2,downstream_gene_variant,,ENST00000446040,;							HIGH	2242/2388	R748*	MARK1_HUMAN			Transcript			.	ENSP00000355884		CCDS31029.2			1	
SIMC1	0	LGGM	GRCh37	5	175717516	175717516	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	122	72	.	.	ENST00000341199.6:c.130-4517A>T		*44*	ENST00000341199	NM_198567.4			0	1		UPI000013E866	0		ENST00000443967		ENSG00000170085	24779		194			HGNC	p.Q330L		SIMC1		SNV							ENST00000429602	protein_coding			hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3,Low_complexity_(Seg):seg		Q/L		T		1339/3572			tolerated_low_confidence(0.32)					SIMC1,missense_variant,p.Gln311Leu,ENST00000443967,;SIMC1,missense_variant,p.Gln330Leu,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,;							MODERATE	932/2619		SIMC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000406571					1	
GTF3C2	0	LGGM	GRCh37	2	27552115	27552115	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	175	78	.	.	ENST00000359541.2:c.1912A>C	p.Ile638Leu	p.I638L	ENST00000359541		638	Atc/Ctc	0	1		UPI0000074025	0	NA	ENST00000264720		ENSG00000115207	4665		253	0.125		HGNC	p.I638L		GTF3C2		SNV							ENST00000264720	protein_coding	getma.org/?cm=var&var=hg19,2,27552115,T,G&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		I/L		G	neutral	2199/3842		getma.org/?cm=msa&ty=f&p=TF3C2_HUMAN&rb=604&re=642&var=I638L	tolerated(0.22)	Q53SY8_HUMAN,Q53QN0_HUMAN,C9JQ12_HUMAN,C9JNH7_HUMAN				GTF3C2,missense_variant,p.Ile638Leu,ENST00000359541,;GTF3C2,missense_variant,p.Ile638Leu,ENST00000264720,NM_001035521.2,NM_001521.3;GTF3C2,missense_variant,p.Ile147Leu,ENST00000454704,;MPV17,upstream_gene_variant,,ENST00000357186,;GTF3C2,upstream_gene_variant,,ENST00000457098,;GTF3C2,upstream_gene_variant,,ENST00000431028,;GTF3C2,missense_variant,p.Ile40Leu,ENST00000415683,;GTF3C2,upstream_gene_variant,,ENST00000495298,;GTF3C2,upstream_gene_variant,,ENST00000484680,;							MODERATE	1912/2736	I638L	TF3C2_HUMAN			Transcript		benign(0.115)	.	ENSP00000264720		CCDS1749.1			1	
BOD1L1	0	LGGM	GRCh37	4	13602972	13602972	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050401	H050401N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	41	103	.	.	ENST00000040738.5:c.5552A>G	p.Asp1851Gly	p.D1851G	ENST00000040738	NM_148894.2	1851	gAt/gGt	0	1	1	UPI000066D9E3	0	NA	ENST00000040738		ENSG00000038219	31792		144	1.04		HGNC	p.D1851G		BOD1L1		SNV							ENST00000040738	protein_coding	getma.org/?cm=var&var=hg19,4,13602972,T,C&fts=all		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		D/G		C	low	5688/10565		getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=1810&re=2009&var=D1851G					YES	BOD1L1,missense_variant,p.Asp1851Gly,ENST00000040738,NM_148894.2;							MODERATE	5552/9156	D1851G	BD1L1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000040738		CCDS3411.2			1	
CACNA2D3	0	LGGM	GRCh37	3	54872639	54872639	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050401	H050401N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050401N.bam, H050401T.bam	Illumina HiSeq	136	118	.	.	ENST00000474759.1:c.1515A>T	p.Pro505=	p.P505=	ENST00000474759	NM_018398.2	505	ccA/ccT	0	1		UPI000004A7BF	0		ENST00000288197		ENSG00000157445	15460		254			HGNC	p.P505P		CACNA2D3		SNV							ENST00000415676	protein_coding			hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166,Pfam_domain:PF02743		P		T		1563/3671				C9JAV5_HUMAN				CACNA2D3,synonymous_variant,p.=,ENST00000474759,NM_018398.2;CACNA2D3,synonymous_variant,p.=,ENST00000288197,;CACNA2D3,synonymous_variant,p.=,ENST00000415676,;CACNA2D3,synonymous_variant,p.=,ENST00000490478,;CACNA2D3,synonymous_variant,p.=,ENST00000471363,;CACNA2D3,synonymous_variant,p.=,ENST00000477024,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;							LOW	1515/3276		CA2D3_HUMAN			Transcript			.	ENSP00000288197					1	
GLTSCR2	0	LGGM	GRCh37	19	48259943	48259943	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	19	2	.	.	ENST00000246802.5:c.1374-2A>T		p.X458_splice	ENST00000246802	NM_015710.4			0	1	1	UPI0000054111	0		ENST00000246802		ENSG00000105373	4333		21			HGNC	-		GLTSCR2		SNV							ENST00000246802	protein_coding							T		-/1528							YES	GLTSCR2,splice_acceptor_variant,,ENST00000246802,NM_015710.4;GLTSCR2,splice_acceptor_variant,,ENST00000595143,;GLTSCR2,splice_acceptor_variant,,ENST00000597985,;GLTSCR2,splice_acceptor_variant,,ENST00000598959,;GLTSCR2,splice_acceptor_variant,,ENST00000594182,;SNORD23,downstream_gene_variant,,ENST00000408876,NR_003048.1;CTD-2571L23.6,downstream_gene_variant,,ENST00000602048,;GLTSCR2,splice_acceptor_variant,,ENST00000598681,;GLTSCR2,downstream_gene_variant,,ENST00000599582,;GLTSCR2,splice_acceptor_variant,,ENST00000600410,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000598285,;GLTSCR2,downstream_gene_variant,,ENST00000594525,;							HIGH	1374/1437		GSCR2_HUMAN			Transcript			.	ENSP00000246802		CCDS12705.1			1	
PLCG2	0	LGGM	GRCh37	16	81922843	81922843	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	6	2	.	.	ENST00000359376.3:c.832C>T	p.Arg278Cys	p.R278C	ENST00000359376	NM_002661.3	278	Cgt/Tgt	0	1	1	UPI00001411F7	0	NA	ENST00000359376		ENSG00000197943	9066		8	2.52		HGNC	p.R278C		PLCG2		SNV			1				ENST00000359376	protein_coding	getma.org/?cm=var&var=hg19,16,81922843,C,T&fts=all		Pfam_domain:PF09279,PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,Superfamily_domains:SSF47473		R/C		T	medium	1046/4308		getma.org/?cm=msa&ty=f&p=PLCG2_HUMAN&rb=229&re=309&var=R278C	deleterious(0)	H3BQV5_HUMAN			YES	PLCG2,missense_variant,p.Arg278Cys,ENST00000359376,NM_002661.3;PLCG2,missense_variant,p.Arg48Cys,ENST00000563193,;PLCG2,upstream_gene_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000563375,;							MODERATE	832/3798	R278C	PLCG2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000352336		CCDS42204.1			1	
PIEZO1	0	LGGM	GRCh37	16	88788034	88788034	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	4	2	.	.	ENST00000301015.9:c.5315G>T	p.Arg1772Leu	p.R1772L	ENST00000301015	NM_001142864.2	1772	cGc/cTc	0	1	1	UPI0001B300F3	0	NA	ENST00000301015		ENSG00000103335	28993		6	2.39		HGNC	p.R1772L		PIEZO1		SNV			1				ENST00000301015	protein_coding	getma.org/?cm=var&var=hg19,16,88788034,C,A&fts=all		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40		R/L		A	medium	5562/8072		getma.org/?cm=msa&ty=f&p=PIEZ1_HUMAN&rb=1628&re=1827&var=R1772L	deleterious(0.01)				YES	PIEZO1,missense_variant,p.Arg1772Leu,ENST00000301015,NM_001142864.2;PIEZO1,upstream_gene_variant,,ENST00000327397,;PIEZO1,upstream_gene_variant,,ENST00000466823,;PIEZO1,downstream_gene_variant,,ENST00000474606,;RP5-1142A6.9,downstream_gene_variant,,ENST00000564984,;PIEZO1,upstream_gene_variant,,ENST00000484567,;PIEZO1,upstream_gene_variant,,ENST00000419505,;PIEZO1,upstream_gene_variant,,ENST00000497793,;PIEZO1,upstream_gene_variant,,ENST00000495568,;PIEZO1,upstream_gene_variant,,ENST00000472168,;PIEZO1,downstream_gene_variant,,ENST00000566414,;PIEZO1,downstream_gene_variant,,ENST00000475586,;							MODERATE	5315/7566	R1772L	PIEZ1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000301015		CCDS54058.1			1	
TACR2	0	LGGM	GRCh37	10	71175719	71175719	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	22	2	.	.	ENST00000373306.4:c.361A>T	p.Ile121Phe	p.I121F	ENST00000373306	NM_001057.2	121	Atc/Ttc	0	1	1	UPI0000061EE3	0	getma.org/pdb.php?prot=NK2R_HUMAN&from=50&to=307&var=I121F	ENST00000373306		ENSG00000075073	11527		24	3.475		HGNC	p.I121F		TACR2		SNV							ENST00000373306	protein_coding	getma.org/?cm=var&var=hg19,10,71175719,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF208,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/F		A	medium	905/2083		getma.org/?cm=msa&ty=f&p=NK2R_HUMAN&rb=50&re=307&var=I121F	deleterious(0)	A6NEW7_HUMAN			YES	TACR2,missense_variant,p.Ile121Phe,ENST00000373306,NM_001057.2;							MODERATE	361/1197	I121F	NK2R_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000362403		CCDS7293.1			1	
CPNE2	0	LGGM	GRCh37	16	57180098	57180098	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	6	2	.	.	ENST00000535318.2:c.1404C>A	p.Ile468=	p.I468=	ENST00000535318		468	atC/atA	0	1		UPI000017DA4F	0		ENST00000290776		ENSG00000140848	2315		8			HGNC	p.I468I		CPNE2		SNV							ENST00000565874	protein_coding			Pfam_domain:PF07002,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF3,SMART_domains:SM00327,Superfamily_domains:SSF53300		I		A		1693/2244				Q719H8_HUMAN,H3BQQ3_HUMAN,H3BPR8_HUMAN				CPNE2,synonymous_variant,p.=,ENST00000535318,;CPNE2,synonymous_variant,p.=,ENST00000290776,NM_152727.5;CPNE2,synonymous_variant,p.=,ENST00000537605,;CPNE2,synonymous_variant,p.=,ENST00000565874,;CPNE2,non_coding_transcript_exon_variant,,ENST00000565951,;CPNE2,non_coding_transcript_exon_variant,,ENST00000566910,;CPNE2,non_coding_transcript_exon_variant,,ENST00000566042,;CPNE2,non_coding_transcript_exon_variant,,ENST00000567011,;							LOW	1404/1647		CPNE2_HUMAN			Transcript			.	ENSP00000290776		CCDS10774.1			1	
CLEC16A	0	LGGM	GRCh37	16	11272537	11272537	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	2	2	.	.	ENST00000409790.1:c.3152C>G	p.Ala1051Gly	p.A1051G	ENST00000409790	NM_015226.2	1051	gCt/gGt	0	1	1	UPI0000253BAD	0	NA	ENST00000409790		ENSG00000038532	29013		4	0		HGNC	p.A1051G		CLEC16A		SNV							ENST00000409790	protein_coding	getma.org/?cm=var&var=hg19,16,11272537,C,G&fts=all				A/G		G	neutral	3382/6891		getma.org/?cm=msa&ty=f&p=CL16A_HUMAN&rb=1018&re=1053&var=A1051G	deleterious_low_confidence(0.04)				YES	CLEC16A,missense_variant,p.Ala1051Gly,ENST00000409790,NM_015226.2;CLEC16A,missense_variant,p.Ala138Gly,ENST00000381822,;CLEC16A,3_prime_UTR_variant,,ENST00000261657,;							MODERATE	3152/3162	A1051G	CL16A_HUMAN			Transcript		benign(0.021)	.	ENSP00000387122		CCDS45409.1			1	
HSPA6	0	LGGM	GRCh37	1	161495153	161495153	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	12	2	.	.	ENST00000309758.4:c.705C>A	p.Phe235Leu	p.F235L	ENST00000309758	NM_002155.3	235	ttC/ttA	0	1	1	UPI0000074238	0	getma.org/pdb.php?prot=HSP76_HUMAN&from=8&to=614&var=F235L	ENST00000309758		ENSG00000173110	5239		14	3.81		HGNC	p.F235L		HSPA6		SNV							ENST00000309758	protein_coding	getma.org/?cm=var&var=hg19,1,161495153,C,A&fts=all		Gene3D:3.90.640.10,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF168,Superfamily_domains:SSF53067		F/L		A	high	1118/2646		getma.org/?cm=msa&ty=f&p=HSP76_HUMAN&rb=8&re=614&var=F235L	deleterious_low_confidence(0)				YES	HSPA6,missense_variant,p.Phe235Leu,ENST00000309758,NM_002155.3;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;							MODERATE	705/1932	F235L	HSP76_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000310219		CCDS1231.1			1	
CAPSL	0	LGGM	GRCh37	5	35921208	35921208	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	21	3	.	.	ENST00000397367.2:c.15G>T	p.Ala5=	p.A5=	ENST00000397367	NM_144647.3	5	gcG/gcT	0	1		UPI0000149B20	0		ENST00000397366		ENSG00000152611	28375		24			HGNC	p.A5A		CAPSL		SNV							ENST00000514524	protein_coding			hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF551		A		A		110/969				D6RF97_HUMAN				CAPSL,synonymous_variant,p.=,ENST00000397367,NM_144647.3;CAPSL,synonymous_variant,p.=,ENST00000397366,NM_001042625.1;CAPSL,synonymous_variant,p.=,ENST00000513623,;CAPSL,synonymous_variant,p.=,ENST00000514524,;							LOW	15/627		CAPSL_HUMAN			Transcript			.	ENSP00000380523		CCDS3912.2			1	
SORCS3	0	LGGM	GRCh37	10	106924130	106924130	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	13	3	.	.	ENST00000369701.3:c.1802G>T	p.Trp601Leu	p.W601L	ENST00000369701	NM_014978.1	601	tGg/tTg	0	1	1	UPI0000135CE1	0	getma.org/pdb.php?prot=SORC3_HUMAN&from=480&to=679&var=W601L	ENST00000369701		ENSG00000156395	16699		16	3.76		HGNC	p.W46L		SORCS3		SNV							ENST00000393176	protein_coding	getma.org/?cm=var&var=hg19,10,106924130,G,T&fts=all		Gene3D:2.130.10.140,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602,Superfamily_domains:SSF110296		W/L		T	high	2029/5757		getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=480&re=679&var=W601L	deleterious(0)	B7Z891_HUMAN			YES	SORCS3,missense_variant,p.Trp601Leu,ENST00000369701,NM_014978.1;SORCS3,missense_variant,p.Trp46Leu,ENST00000393176,;							MODERATE	1802/3669	W601L	SORC3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000358715		CCDS7558.1			1	
MYO10	0	LGGM	GRCh37	5	16701398	16701398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	10	3	.	.	ENST00000513610.1:c.3106A>T	p.Met1036Leu	p.M1036L	ENST00000513610	NM_012334.2	1036	Atg/Ttg	0	1	1	UPI0001597062	0	NA	ENST00000513610		ENSG00000145555	7593		13	0.695		HGNC	p.M1036L		MYO10		SNV							ENST00000513610	protein_coding	getma.org/?cm=var&var=hg19,5,16701398,T,A&fts=all				M/L		A	neutral	3561/8038		getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=900&re=1099&var=M1036L	tolerated_low_confidence(0.63)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Met1036Leu,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Met375Leu,ENST00000515803,;MYO10,missense_variant,p.Met393Leu,ENST00000274203,;MYO10,missense_variant,p.Met393Leu,ENST00000427430,;MYO10,missense_variant,p.Met375Leu,ENST00000505695,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000512061,;MYO10,downstream_gene_variant,,ENST00000506343,;MYO10,downstream_gene_variant,,ENST00000510401,;							MODERATE	3106/6177	M1036L	MYO10_HUMAN			Transcript		benign(0.004)	.	ENSP00000421280		CCDS54834.1			1	
IRF3	0	LGGM	GRCh37	19	50165713	50165713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	3	3	.	.	ENST00000601291.1:c.570C>A	p.Asn190Lys	p.N190K	ENST00000601291		190	aaC/aaA	0	1		UPI000012D88A	0	NA	ENST00000309877		ENSG00000126456	6118		6	1.905		HGNC	p.N190K		IRF3		SNV							ENST00000596756	protein_coding	getma.org/?cm=var&var=hg19,19,50165713,G,T&fts=all		hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF1,Gene3D:2.60.200.10,Superfamily_domains:SSF49879		N/K		T	medium	901/1691		getma.org/?cm=msa&ty=f&p=IRF3_HUMAN&rb=113&re=200&var=N190K	deleterious(0)	Q71U93_HUMAN,M0R205_HUMAN,M0R0X9_HUMAN,M0R0R8_HUMAN,M0R007_HUMAN,M0QYX3_HUMAN,M0QYT9_HUMAN,M0QXC8_HUMAN				IRF3,missense_variant,p.Asn190Lys,ENST00000597198,;IRF3,missense_variant,p.Asn190Lys,ENST00000309877,;IRF3,missense_variant,p.Asn190Lys,ENST00000600911,;IRF3,missense_variant,p.Asn190Lys,ENST00000377139,NM_001571.5,NM_001197125.1,NM_001197122.1;IRF3,missense_variant,p.Asn190Lys,ENST00000601291,;IRF3,missense_variant,p.Asn44Lys,ENST00000593922,NM_001197123.1;IRF3,missense_variant,p.Asn44Lys,ENST00000598808,;IRF3,missense_variant,p.Asn190Lys,ENST00000598108,;IRF3,missense_variant,p.Asn44Lys,ENST00000599144,NM_001197126.1;IRF3,missense_variant,p.Asn190Lys,ENST00000599223,NM_001197124.1;IRF3,missense_variant,p.Asn190Lys,ENST00000596756,;IRF3,missense_variant,p.Asn44Lys,ENST00000593818,;IRF3,missense_variant,p.Asn190Lys,ENST00000377135,;IRF3,missense_variant,p.Asn44Lys,ENST00000600022,NM_001197127.1;IRF3,missense_variant,p.Asn44Lys,ENST00000596822,;IRF3,missense_variant,p.Asn190Lys,ENST00000601809,;IRF3,missense_variant,p.Asn44Lys,ENST00000595034,;IRF3,missense_variant,p.Asn44Lys,ENST00000596765,NM_001197128.1;IRF3,missense_variant,p.Asn44Lys,ENST00000601373,;IRF3,intron_variant,,ENST00000593337,;SCAF1,downstream_gene_variant,,ENST00000360565,NM_021228.2;BCL2L12,upstream_gene_variant,,ENST00000246785,NM_138639.1,NM_001040668.1;BCL2L12,upstream_gene_variant,,ENST00000441864,;BCL2L12,upstream_gene_variant,,ENST00000246784,;IRF3,downstream_gene_variant,,ENST00000600453,;BCL2L12,upstream_gene_variant,,ENST00000600947,;BCL2L12,upstream_gene_variant,,ENST00000594157,;BCL2L12,upstream_gene_variant,,ENST00000598306,;IRF3,downstream_gene_variant,,ENST00000442265,;IRF3,upstream_gene_variant,,ENST00000599680,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,downstream_gene_variant,,ENST00000597180,;IRF3,missense_variant,p.Asn190Lys,ENST00000597636,;IRF3,non_coding_transcript_exon_variant,,ENST00000594387,;IRF3,non_coding_transcript_exon_variant,,ENST00000595240,;BCL2L12,upstream_gene_variant,,ENST00000598979,;IRF3,downstream_gene_variant,,ENST00000597369,;IRF3,upstream_gene_variant,,ENST00000596644,;IRF3,downstream_gene_variant,,ENST00000596788,;BCL2L12,upstream_gene_variant,,ENST00000601168,;							MODERATE	570/1284	N190K	IRF3_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000310127		CCDS12775.1			1	
NECAB3	0	LGGM	GRCh37	20	32248066	32248066	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	33	3	.	.	ENST00000246190.6:c.523C>T	p.Arg175Trp	p.R175W	ENST00000246190	NM_031232.3	175	Cgg/Tgg	0	1	1	UPI0000125101	0	NA	ENST00000246190		ENSG00000125967	15851		36	2.505		HGNC	p.R175W	COSM1411261	NECAB3		SNV						1	ENST00000246190	protein_coding	getma.org/?cm=var&var=hg19,20,32248066,G,A&fts=all		hmmpanther:PTHR12178,hmmpanther:PTHR12178:SF3		R/W		A	medium	579/1989		getma.org/?cm=msa&ty=f&p=NECA3_HUMAN&rb=67&re=266&var=R175W	deleterious(0.03)	H0UI92_HUMAN			YES	NECAB3,missense_variant,p.Arg175Trp,ENST00000246190,NM_031232.3;NECAB3,missense_variant,p.Arg175Trp,ENST00000375238,NM_031231.3;NECAB3,missense_variant,p.Arg175Trp,ENST00000439478,;NECAB3,missense_variant,p.Arg175Trp,ENST00000606690,;NECAB3,splice_region_variant,,ENST00000480994,;C20orf144,upstream_gene_variant,,ENST00000375222,NM_080825.3;RP1-63M2.6,downstream_gene_variant,,ENST00000607224,;NECAB3,splice_region_variant,,ENST00000606525,;NECAB3,splice_region_variant,,ENST00000483813,;NECAB3,splice_region_variant,,ENST00000485976,;NECAB3,splice_region_variant,,ENST00000494174,;NECAB3,splice_region_variant,,ENST00000478237,;NECAB3,splice_region_variant,,ENST00000463246,;NECAB3,splice_region_variant,,ENST00000498353,;NECAB3,non_coding_transcript_exon_variant,,ENST00000606106,;NECAB3,upstream_gene_variant,,ENST00000477778,;NECAB3,stop_gained,p.Arg175Ter,ENST00000607805,;NECAB3,missense_variant,p.Arg175Trp,ENST00000485399,;NECAB3,splice_region_variant,,ENST00000493590,;NECAB3,3_prime_UTR_variant,,ENST00000488489,;NECAB3,non_coding_transcript_exon_variant,,ENST00000606699,;C20orf144,upstream_gene_variant,,ENST00000607738,;					1		MODERATE	523/1191	R175W	NECA3_HUMAN			Transcript		benign(0.052)	.	ENSP00000246190		CCDS42866.1			1	
CSRNP2	0	LGGM	GRCh37	12	51470242	51470242	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	40	3	.	.	ENST00000228515.1:c.103G>T	p.Ala35Ser	p.A35S	ENST00000228515	NM_030809.2	35	Gct/Tct	0	1	1	UPI0000073111	0	NA	ENST00000228515		ENSG00000110925	16006		43	1.175		HGNC	p.A35S		CSRNP2		SNV							ENST00000552899	protein_coding	getma.org/?cm=var&var=hg19,12,51470242,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13580:SF6,hmmpanther:PTHR13580		A/S		A	low	401/4469		getma.org/?cm=msa&ty=f&p=CSRN2_HUMAN&rb=1&re=293&var=A35S	tolerated(0.12)	F8W1G8_HUMAN,F8VZY2_HUMAN,F8VVN1_HUMAN,F8VTU0_HUMAN			YES	CSRNP2,missense_variant,p.Ala35Ser,ENST00000228515,NM_030809.2;CSRNP2,missense_variant,p.Ala35Ser,ENST00000548981,;CSRNP2,missense_variant,p.Ala35Ser,ENST00000546935,;CSRNP2,missense_variant,p.Ala35Ser,ENST00000552899,;CSRNP2,intron_variant,,ENST00000548206,;CSRNP2,non_coding_transcript_exon_variant,,ENST00000552680,;CSRNP2,downstream_gene_variant,,ENST00000550461,;CSRNP2,non_coding_transcript_exon_variant,,ENST00000550533,;							MODERATE	103/1632	A35S	CSRN2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000228515		CCDS8807.1			1	
RAD54L2	0	LGGM	GRCh37	3	51696735	51696735	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	13	3	.	.	ENST00000409535.2:c.3703C>G	p.Leu1235Val	p.L1235V	ENST00000409535	NM_015106.2	1235	Ctc/Gtc	0	1	1	UPI000022C0AA	0	NA	ENST00000409535		ENSG00000164080	29123		16	0.345		HGNC	p.L1235V		RAD54L2		SNV							ENST00000409535	protein_coding	getma.org/?cm=var&var=hg19,3,51696735,C,G&fts=all		hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799		L/V		G	neutral	3828/9776		getma.org/?cm=msa&ty=f&p=ARIP4_HUMAN&rb=1055&re=1254&var=L1235V	tolerated_low_confidence(0.28)	E7EU19_HUMAN			YES	RAD54L2,missense_variant,p.Leu1235Val,ENST00000409535,NM_015106.2;RAD54L2,missense_variant,p.Leu929Val,ENST00000296477,;RAD54L2,missense_variant,p.Leu1064Val,ENST00000432863,;TEX264,5_prime_UTR_variant,,ENST00000419358,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;							MODERATE	3703/4404	L1235V	ARIP4_HUMAN			Transcript		benign(0.039)	.	ENSP00000386520		CCDS33765.2			1	
SLC12A4	0	LGGM	GRCh37	16	67986211	67986211	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	42	3	.	.	ENST00000422611.2:c.799G>C	p.Val267Leu	p.V267L	ENST00000422611	NM_001145962.1	267	Gtg/Ctg	0	1		UPI0000135421	0	NA	ENST00000316341		ENSG00000124067	10913	0.000259	45	1.04		HGNC	p.V217L	rs751610841	SLC12A4		SNV							ENST00000572037	protein_coding	getma.org/?cm=var&var=hg19,16,67986211,C,G&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR01081,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324,hmmpanther:PTHR11827:SF46,hmmpanther:PTHR11827		V/L		G	low	934/3911	1.50E-05	getma.org/?cm=msa&ty=f&p=S12A4_HUMAN&rb=123&re=308&var=V265L	tolerated(0.16)	J3QRE2_HUMAN				SLC12A4,missense_variant,p.Val267Leu,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Val265Leu,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,missense_variant,p.Val265Leu,ENST00000576616,;SLC12A4,missense_variant,p.Val265Leu,ENST00000338335,;SLC12A4,missense_variant,p.Val234Leu,ENST00000541864,NM_001145964.1;SLC12A4,missense_variant,p.Val217Leu,ENST00000572037,;SLC12A4,missense_variant,p.Val259Leu,ENST00000537830,NM_001145963.1;SLC12A4,missense_variant,p.Val148Leu,ENST00000571299,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572010,;SLC12A4,3_prime_UTR_variant,,ENST00000576377,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,upstream_gene_variant,,ENST00000574665,;SLC12A4,upstream_gene_variant,,ENST00000573702,;SLC12A4,upstream_gene_variant,,ENST00000575857,;SLC12A4,upstream_gene_variant,,ENST00000572476,;SLC12A4,upstream_gene_variant,,ENST00000572766,;SLC12A4,upstream_gene_variant,,ENST00000576513,;							MODERATE	793/3258	V265L	S12A4_HUMAN			Transcript		benign(0.052)	.	ENSP00000318557	3.29E-05	CCDS10855.1			1	
STK31	0	LGGM	GRCh37	7	23749939	23749939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	14	3	.	.	ENST00000355870.3:c.35C>A	p.Ala12Glu	p.A12E	ENST00000355870	NM_031414.4	12	gCa/gAa	0	1	1	UPI0000167B73	0	NA	ENST00000355870		ENSG00000196335	11407		17	0.55		HGNC	p.A12E		STK31		SNV							ENST00000433467	protein_coding	getma.org/?cm=var&var=hg19,7,23749939,C,A&fts=all		hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF0		A/E		A	neutral	154/3326		getma.org/?cm=msa&ty=f&p=STK31_HUMAN&rb=1&re=57&var=A12E	tolerated_low_confidence(0.05)	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN			YES	STK31,missense_variant,p.Ala12Glu,ENST00000355870,NM_031414.4;STK31,missense_variant,p.Ala12Glu,ENST00000433467,NM_001260505.1;STK31,5_prime_UTR_variant,,ENST00000456014,;STK31,5_prime_UTR_variant,,ENST00000422637,;STK31,upstream_gene_variant,,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,upstream_gene_variant,,ENST00000428484,;STK31,upstream_gene_variant,,ENST00000444333,;STK31,upstream_gene_variant,,ENST00000531170,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;STK31,non_coding_transcript_exon_variant,,ENST00000461866,;							MODERATE	35/3060	A12E	STK31_HUMAN			Transcript		benign(0.004)	.	ENSP00000348132		CCDS5386.1			1	
SIGLEC1	0	LGGM	GRCh37	20	3674346	3674346	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	6	4	.	.	ENST00000344754.4:c.3257-1G>A		p.X1086_splice	ENST00000344754	NM_023068.3			0	1	1	UPI0000049BA6	0		ENST00000344754		ENSG00000088827	11127		10			HGNC	-		SIGLEC1		SNV							ENST00000344754	protein_coding							T		-/6720							YES	SIGLEC1,splice_acceptor_variant,,ENST00000344754,NM_023068.3;SIGLEC1,splice_acceptor_variant,,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;							HIGH	3257/5130		SN_HUMAN			Transcript			.	ENSP00000341141		CCDS13060.1			1	
AP3B2	0	LGGM	GRCh37	15	83331965	83331965	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	11	4	.	.	ENST00000261722.3:c.2461C>A	p.Pro821Thr	p.P821T	ENST00000261722	NM_004644.4	821	Cct/Act	0	1	1	UPI0000125030	0	NA	ENST00000261722		ENSG00000103723	567		15	0		HGNC	p.P840T		AP3B2		SNV							ENST00000535359	protein_coding	getma.org/?cm=var&var=hg19,15,83331965,G,T&fts=all		Gene3D:2.60.40.1230,Pfam_domain:PF14796,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11		P/T		T	neutral	2669/3736		getma.org/?cm=msa&ty=f&p=AP3B2_HUMAN&rb=791&re=990&var=P821T	tolerated(0.14)	F5GWU4_HUMAN			YES	AP3B2,missense_variant,p.Pro821Thr,ENST00000261722,NM_004644.4;AP3B2,missense_variant,p.Pro840Thr,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Pro789Thr,ENST00000535348,NM_001278511.1;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,3_prime_UTR_variant,,ENST00000538592,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,non_coding_transcript_exon_variant,,ENST00000545315,;AP3B2,upstream_gene_variant,,ENST00000537735,;							MODERATE	2461/3249	P821T	AP3B2_HUMAN			Transcript		unknown(0)	.	ENSP00000261722		CCDS45331.1			1	
KIAA1024	0	LGGM	GRCh37	15	79750113	79750113	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	43	4	.	.	ENST00000305428.3:c.1624T>C	p.Tyr542His	p.Y542H	ENST00000305428	NM_015206.2	542	Tac/Cac	0	1	1	UPI00001B2F56	0	NA	ENST00000305428		ENSG00000169330	29172		47	1.935		HGNC	p.Y542H		KIAA1024		SNV							ENST00000559272	protein_coding	getma.org/?cm=var&var=hg19,15,79750113,T,C&fts=all		hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2		Y/H		C	medium	1699/6732		getma.org/?cm=msa&ty=f&p=K1024_HUMAN&rb=1&re=757&var=Y542H	tolerated(0.22)				YES	KIAA1024,missense_variant,p.Tyr542His,ENST00000305428,NM_015206.2;KIAA1024,missense_variant,p.Tyr542His,ENST00000559272,;							MODERATE	1624/2751	Y542H	K1024_HUMAN			Transcript		benign(0.141)	.	ENSP00000307461		CCDS32306.1			1	
TG	0	LGGM	GRCh37	8	134145756	134145756	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	38	4	.	.	ENST00000220616.4:c.8040A>G	p.Thr2680=	p.T2680=	ENST00000220616	NM_003235.4	2680	acA/acG	0	1	1	UPI000013C79F	0		ENST00000220616		ENSG00000042832	11764		42			HGNC	p.T84T		TG		SNV			1				ENST00000521107	protein_coding			Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142,Superfamily_domains:SSF53474		T		G		8080/8450				Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,synonymous_variant,p.=,ENST00000220616,NM_003235.4;TG,synonymous_variant,p.=,ENST00000377869,;TG,synonymous_variant,p.=,ENST00000519178,;TG,synonymous_variant,p.=,ENST00000542445,;TG,synonymous_variant,p.=,ENST00000519543,;TG,synonymous_variant,p.=,ENST00000521107,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522691,;							LOW	8040/8307		THYG_HUMAN			Transcript			.	ENSP00000220616		CCDS34944.1			1	
SLFNL1	0	LGGM	GRCh37	1	41486078	41486078	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	21	4	.	.	ENST00000359345.1:c.255G>A	p.Val85=	p.V85=	ENST00000359345	NM_144990.3	85	gtG/gtA	0	1		UPI000013E83F	0		ENST00000302946		ENSG00000171790	26313		25			HGNC	p.V85V		SLFNL1		SNV							ENST00000372611	protein_coding			hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF19		V		T		473/1951								SLFNL1,synonymous_variant,p.=,ENST00000359345,NM_144990.3;SLFNL1,synonymous_variant,p.=,ENST00000372613,;SLFNL1,synonymous_variant,p.=,ENST00000439569,NM_001168247.1;SLFNL1,synonymous_variant,p.=,ENST00000397197,;SLFNL1,synonymous_variant,p.=,ENST00000302946,;SLFNL1,synonymous_variant,p.=,ENST00000372611,;							LOW	255/1224		SLNL1_HUMAN			Transcript			.	ENSP00000304401		CCDS460.1			1	
QTRT1	0	LGGM	GRCh37	19	10812155	10812155	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	2	4	.	.	ENST00000250237.5:c.19C>T	p.Gln7Ter	p.Q7*	ENST00000250237	NM_031209.2	7	Cag/Tag	0	1	1	UPI000003B010	0	NA	ENST00000250237		ENSG00000213339	23797		6	0		HGNC	p.Q7X		QTRT1		SNV							ENST00000421333	protein_coding	getma.org/?cm=var&var=hg19,19,10812155,C,T&fts=all		hmmpanther:PTHR11962,hmmpanther:PTHR11962:SF6		Q/*		T	NA	29/1317		NA					YES	QTRT1,stop_gained,p.Gln7Ter,ENST00000250237,NM_031209.2;QTRT1,stop_gained,p.Gln4Ter,ENST00000592254,;QTRT1,non_coding_transcript_exon_variant,,ENST00000585885,;QTRT1,stop_gained,p.Gln7Ter,ENST00000421333,;QTRT1,stop_gained,p.Gln6Ter,ENST00000587599,;QTRT1,non_coding_transcript_exon_variant,,ENST00000589488,;QTRT1,non_coding_transcript_exon_variant,,ENST00000590705,;							HIGH	19/1212	Q7*	TGT_HUMAN			Transcript			.	ENSP00000250237		CCDS12248.1			1	
TTF2	0	LGGM	GRCh37	1	117633162	117633162	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	33	4	.	.	ENST00000369466.4:c.2505G>T	p.Leu835=	p.L835=	ENST00000369466	NM_003594.3	835	ctG/ctT	0	1	1	UPI000013CCE7	0		ENST00000369466		ENSG00000116830	12398		37			HGNC	p.L835L		TTF2		SNV							ENST00000369466	protein_coding			Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF573,Superfamily_domains:SSF52540		L		T		2549/9462							YES	TTF2,synonymous_variant,p.=,ENST00000369466,NM_003594.3;MIR942,upstream_gene_variant,,ENST00000401111,;TTF2,upstream_gene_variant,,ENST00000492682,;TTF2,upstream_gene_variant,,ENST00000463696,;							LOW	2505/3489		TTF2_HUMAN			Transcript			.	ENSP00000358478		CCDS892.1			1	
SIM2	0	LGGM	GRCh37	21	38084851	38084851	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	24	4	.	.	ENST00000290399.6:c.277T>C	p.Phe93Leu	p.F93L	ENST00000290399	NM_005069.3	93	Ttt/Ctt	0	1	1	UPI000013599A	0	getma.org/pdb.php?prot=SIM2_HUMAN&from=79&to=164&var=F93L	ENST00000290399		ENSG00000159263	10883		28	1.11		HGNC	p.F93L		SIM2		SNV							ENST00000430056	protein_coding	getma.org/?cm=var&var=hg19,21,38084851,T,C&fts=all		Gene3D:3.30.450.20,Pfam_domain:PF00989,PROSITE_profiles:PS50112,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF19,SMART_domains:SM00091,Superfamily_domains:SSF55785		F/L		C	low	890/4442		getma.org/?cm=msa&ty=f&p=SIM2_HUMAN&rb=79&re=164&var=F93L	tolerated(0.06)				YES	SIM2,missense_variant,p.Phe93Leu,ENST00000290399,NM_005069.3;SIM2,missense_variant,p.Phe93Leu,ENST00000430056,NM_009586.2;SIM2,missense_variant,p.Phe31Leu,ENST00000431229,;SIM2,upstream_gene_variant,,ENST00000483178,;SIM2,downstream_gene_variant,,ENST00000460783,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;							MODERATE	277/2004	F93L	SIM2_HUMAN			Transcript		benign(0.429)	.	ENSP00000290399		CCDS13646.1			1	
MCTP1	0	LGGM	GRCh37	5	94230469	94230469	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	26	5	.	.	ENST00000515393.1:c.1724A>T	p.Glu575Val	p.E575V	ENST00000515393	NM_024717.4	575	gAg/gTg	0	1	1	UPI0000D6165C	0	NA	ENST00000515393		ENSG00000175471	26183		31	1.39		HGNC	p.E308V		MCTP1		SNV							ENST00000429576	protein_coding	getma.org/?cm=var&var=hg19,5,94230469,T,A&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122		E/V		A	low	1724/5396		getma.org/?cm=msa&ty=f&p=MCTP1_HUMAN&rb=554&re=627&var=E575V	tolerated(0.14)	E5RJR1_HUMAN			YES	MCTP1,missense_variant,p.Glu575Val,ENST00000515393,NM_024717.4;MCTP1,missense_variant,p.Glu308Val,ENST00000429576,;MCTP1,missense_variant,p.Glu91Val,ENST00000505078,;MCTP1,missense_variant,p.Glu176Val,ENST00000506568,;MCTP1,missense_variant,p.Glu354Val,ENST00000312216,NM_001002796.2;MCTP1,missense_variant,p.Glu295Val,ENST00000508509,;MCTP1,missense_variant,p.Glu354Val,ENST00000505208,;MCTP1,missense_variant,p.Glu236Val,ENST00000512425,;							MODERATE	1724/3000	E575V	MCTP1_HUMAN			Transcript		benign(0.266)	.	ENSP00000424126		CCDS34203.1			1	
VWA1	0	LGGM	GRCh37	1	1372726	1372726	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	13	5	.	.	ENST00000476993.1:c.493G>A	p.Val165Met	p.V165M	ENST00000476993	NM_022834.4	165	Gtg/Atg	0	1	1	UPI00001D9616	0		ENST00000476993		ENSG00000179403	30910	0.000183	18			HGNC	p.R33H	rs745450359	VWA1		SNV							ENST00000338660	protein_coding			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF7,SMART_domains:SM00327,Superfamily_domains:SSF53300		V/M		A		571/4511			deleterious(0)	J3QLP3_HUMAN			YES	VWA1,missense_variant,p.Val165Met,ENST00000476993,NM_022834.4;VWA1,missense_variant,p.Arg33His,ENST00000338660,;VWA1,missense_variant,p.Val130Met,ENST00000495558,;VWA1,5_prime_UTR_variant,,ENST00000404702,NM_199121.2;VWA1,downstream_gene_variant,,ENST00000471398,;RP4-758J18.10,upstream_gene_variant,,ENST00000417917,;RP4-758J18.10,upstream_gene_variant,,ENST00000430109,;RP4-758J18.10,upstream_gene_variant,,ENST00000454562,;							MODERATE	493/1338		VWA1_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000417185	1.65E-05	CCDS27.1			1	
ARID4B	0	LGGM	GRCh37	1	235345530	235345530	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	122	5	.	.	ENST00000264183.3:c.2704G>A	p.Ala902Thr	p.A902T	ENST00000264183	NM_016374.5	902	Gca/Aca	0	1	1	UPI00000437FE	0	NA	ENST00000264183		ENSG00000054267	15550		127	0.345		HGNC	p.A902T		ARID4B		SNV							ENST00000421364	protein_coding	getma.org/?cm=var&var=hg19,1,235345530,C,T&fts=all		hmmpanther:PTHR13964:SF21,hmmpanther:PTHR13964		A/T		T	neutral	3202/6067		getma.org/?cm=msa&ty=f&p=ARI4B_HUMAN&rb=827&re=1026&var=A902T	deleterious_low_confidence(0.01)				YES	ARID4B,missense_variant,p.Ala902Thr,ENST00000264183,NM_016374.5;ARID4B,missense_variant,p.Ala902Thr,ENST00000366603,NM_001206794.1;ARID4B,missense_variant,p.Ala816Thr,ENST00000349213,NM_031371.3;ARID4B,missense_variant,p.Ala302Thr,ENST00000444620,;ARID4B,upstream_gene_variant,,ENST00000494543,;ARID4B,missense_variant,p.Ala902Thr,ENST00000421364,;ARID4B,missense_variant,p.Ala216Thr,ENST00000474953,;ARID4B,non_coding_transcript_exon_variant,,ENST00000471257,;ARID4B,non_coding_transcript_exon_variant,,ENST00000491632,;							MODERATE	2704/3939	A902T	ARI4B_HUMAN			Transcript		benign(0.333)	.	ENSP00000264183		CCDS31061.1			1	
CD300LB	0	LGGM	GRCh37	17	72519776	72519776	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	37	5	.	.	ENST00000392621.1:c.496A>G	p.Thr166Ala	p.T166A	ENST00000392621	NM_174892.3	166	Aca/Gca	0	1	1	UPI000013F7FE	0	NA	ENST00000392621		ENSG00000178789	30811		42	0.69		HGNC	p.T166A		CD300LB		SNV							ENST00000314401	protein_coding	getma.org/?cm=var&var=hg19,17,72519776,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF41		T/A		C	neutral	501/2286		getma.org/?cm=msa&ty=f&p=CLM7_HUMAN&rb=122&re=201&var=T129A	tolerated(0.21)	B4DQ71_HUMAN			YES	CD300LB,missense_variant,p.Thr166Ala,ENST00000392621,NM_174892.3;CD300LB,missense_variant,p.Thr166Ala,ENST00000314401,;							MODERATE	496/717	T129A	CLM7_HUMAN			Transcript		benign(0.005)	.	ENSP00000376397					1	
PLSCR2	0	LGGM	GRCh37	3	146177672	146177672	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	35	5	.	.	ENST00000497985.1:c.239C>T	p.Pro80Leu	p.P80L	ENST00000497985	NM_001199978.1	80	cCa/cTa	0	1	1	UPI0001B79690	0	NA	ENST00000497985		ENSG00000163746	16494		40	1.965		HGNC	p.P7L		PLSCR2		SNV							ENST00000336685	protein_coding	getma.org/?cm=var&var=hg19,3,146177672,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23248:SF29,hmmpanther:PTHR23248,Pfam_domain:PF03803		P/L		A	medium	679/1441		getma.org/?cm=msa&ty=f&p=PLS2_HUMAN&rb=1&re=222&var=P7L	tolerated(0.25)	C9J636_HUMAN			YES	PLSCR2,missense_variant,p.Pro80Leu,ENST00000497985,NM_001199978.1;PLSCR2,missense_variant,p.Pro7Leu,ENST00000336685,NM_001199979.1;PLSCR2,missense_variant,p.Pro7Leu,ENST00000489015,;PLSCR2,missense_variant,p.Pro7Leu,ENST00000463633,;							MODERATE	239/894	P7L	PLS2_HUMAN			Transcript		benign(0.024)	.	ENSP00000420132		CCDS56284.1			1	
ALPI	0	LGGM	GRCh37	2	233321726	233321726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	16	5	.	.	ENST00000295463.3:c.418T>C	p.Cys140Arg	p.C140R	ENST00000295463	NM_001631.3	140	Tgc/Cgc	0	1	1	UPI0000131FFE	0	getma.org/pdb.php?prot=PPBI_HUMAN&from=52&to=487&var=C140R	ENST00000295463		ENSG00000163295	437		21	4.26		HGNC	p.C140R		ALPI		SNV							ENST00000295463	protein_coding	getma.org/?cm=var&var=hg19,2,233321726,T,C&fts=all		hmmpanther:PTHR11596:SF30,hmmpanther:PTHR11596,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649		C/R		C	high	495/2550		getma.org/?cm=msa&ty=f&p=PPBI_HUMAN&rb=52&re=487&var=C140R	deleterious(0)				YES	ALPI,missense_variant,p.Cys140Arg,ENST00000295463,NM_001631.3;ALPI,3_prime_UTR_variant,,ENST00000457560,;							MODERATE	418/1587	C140R	PPBI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295463		CCDS2492.1			1	
RADIL	0	LGGM	GRCh37	7	4917584	4917584	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	6	5	.	.	ENST00000399583.3:c.187G>A	p.Gly63Ser	p.G63S	ENST00000399583	NM_018059.4	63	Ggt/Agt	0	1	1	UPI0000E0A787	0	getma.org/pdb.php?prot=RADIL_HUMAN&from=61&to=164&var=G63S	ENST00000399583		ENSG00000157927	22226		11	2.85		HGNC	p.G63S		RADIL		SNV							ENST00000445392	protein_coding	getma.org/?cm=var&var=hg19,7,4917584,C,T&fts=all		Pfam_domain:PF00788,PROSITE_profiles:PS50200,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3,SMART_domains:SM00314,Superfamily_domains:SSF54236		G/S		T	medium	375/3689		getma.org/?cm=msa&ty=f&p=RADIL_HUMAN&rb=61&re=164&var=G63S	deleterious(0)	F5H6X3_HUMAN,C9J7G0_HUMAN			YES	RADIL,missense_variant,p.Gly63Ser,ENST00000399583,NM_018059.4;RADIL,missense_variant,p.Gly63Ser,ENST00000536091,;RADIL,missense_variant,p.Gly63Ser,ENST00000457174,;RADIL,missense_variant,p.Gly63Ser,ENST00000445392,;							MODERATE	187/3228	G63S	RADIL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382492		CCDS43544.1			1	
CUL7	0	LGGM	GRCh37	6	43020052	43020052	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	15	6	.	.	ENST00000535468.1:c.631G>A	p.Asp211Asn	p.D211N	ENST00000535468	NM_014780.4	211	Gac/Aac	0	1		UPI000013D603	0	NA	ENST00000265348		ENSG00000044090	21024		21	0.345		HGNC	p.D211N		CUL7		SNV			1				ENST00000535468	protein_coding	getma.org/?cm=var&var=hg19,6,43020052,C,T&fts=all		hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		D/N		T	neutral	561/5254		getma.org/?cm=msa&ty=f&p=CUL7_HUMAN&rb=1&re=200&var=D159N	deleterious(0)					CUL7,missense_variant,p.Asp211Asn,ENST00000535468,NM_014780.4,NM_001168370.1;CUL7,missense_variant,p.Asp159Asn,ENST00000265348,;MRPL2,downstream_gene_variant,,ENST00000388752,NM_015950.3;MRPL2,downstream_gene_variant,,ENST00000230413,;MRPL2,downstream_gene_variant,,ENST00000489623,;CUL7,upstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;MRPL2,downstream_gene_variant,,ENST00000491898,;MRPL2,downstream_gene_variant,,ENST00000470667,;MRPL2,downstream_gene_variant,,ENST00000480286,;MRPL2,downstream_gene_variant,,ENST00000485654,;							MODERATE	475/5097	D159N	CUL7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265348		CCDS4881.1			1	
CASS4	0	LGGM	GRCh37	20	55027391	55027391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	43	6	.	.	ENST00000371336.3:c.1159C>T	p.Arg387Trp	p.R387W	ENST00000371336	NM_001164114.1	387	Cgg/Tgg	0	1		UPI00001285DB	0	NA	ENST00000360314		ENSG00000087589	15878	8.71E-05	49	1.61		HGNC	p.R387W	rs772361440	CASS4		SNV							ENST00000371336	protein_coding	getma.org/?cm=var&var=hg19,20,55027391,C,T&fts=all		hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654		R/W		T	low	1384/2619	1.52E-05	getma.org/?cm=msa&ty=f&p=CASS4_HUMAN&rb=266&re=434&var=R387W	tolerated(0.27)					CASS4,missense_variant,p.Arg387Trp,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,missense_variant,p.Arg387Trp,ENST00000360314,NM_001164116.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;							MODERATE	1159/2361	R387W	CASS4_HUMAN			Transcript		benign(0.003)	.	ENSP00000353462	1.65E-05	CCDS33492.1			1	
SMARCA4	0	LGGM	GRCh37	19	11123695	11123695	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	13	6	.	.	ENST00000344626.4:c.2345G>A	p.Gly782Asp	p.G782D	ENST00000344626	NM_003072.3	782	gGc/gAc	0	1		UPI000006F973	0	getma.org/pdb.php?prot=SMCA4_HUMAN&from=757&to=1052&var=G782D	ENST00000344626		ENSG00000127616	11100		19	4.46		HGNC	p.G782D		SMARCA4		SNV			1				ENST00000450717	protein_coding	getma.org/?cm=var&var=hg19,19,11123695,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,SMART_domains:SM00487,Superfamily_domains:SSF52540		G/D		A	high	2550/5392		getma.org/?cm=msa&ty=f&p=SMCA4_HUMAN&rb=757&re=1052&var=G782D		B4DSI8_HUMAN,A7E2E1_HUMAN				SMARCA4,missense_variant,p.Gly782Asp,ENST00000358026,NM_001128849.1;SMARCA4,missense_variant,p.Gly782Asp,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Gly782Asp,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Gly782Asp,ENST00000413806,NM_001128845.1,NM_001128847.1;SMARCA4,missense_variant,p.Gly782Asp,ENST00000450717,NM_001128846.1,NM_001128848.1;SMARCA4,missense_variant,p.Gly782Asp,ENST00000590574,;SMARCA4,missense_variant,p.Gly782Asp,ENST00000589677,;SMARCA4,missense_variant,p.Gly782Asp,ENST00000541122,;SMARCA4,missense_variant,p.Gly782Asp,ENST00000444061,;CTC-215O4.4,intron_variant,,ENST00000587831,;RN7SL192P,downstream_gene_variant,,ENST00000584303,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,;							MODERATE	2345/4944	G782D	SMCA4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000343896		CCDS12253.1			1	
OR2T1	0	LGGM	GRCh37	1	248569326	248569326	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	74	6	.	.	ENST00000366474.1:c.31T>C	p.Phe11Leu	p.F11L	ENST00000366474	NM_030904.1	11	Ttc/Ctc	0	1	1	UPI00003B2872	0	NA	ENST00000366474		ENSG00000175143	8277		80	0		HGNC	p.F11L		OR2T1		SNV							ENST00000366474	protein_coding	getma.org/?cm=var&var=hg19,1,248569326,T,C&fts=all		Transmembrane_helices:TMhelix		F/L		C	neutral	31/1110		getma.org/?cm=msa&ty=f&p=OR2T1_HUMAN&rb=1&re=188&var=F11L	tolerated_low_confidence(0.25)				YES	OR2T1,missense_variant,p.Phe11Leu,ENST00000366474,NM_030904.1;							MODERATE	31/1110	F11L	OR2T1_HUMAN			Transcript		benign(0)	.	ENSP00000355430		CCDS31115.1			1	
SCAF8	0	LGGM	GRCh37	6	155099174	155099174	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	12	6	.	.	ENST00000367178.3:c.154C>G	p.Gln52Glu	p.Q52E	ENST00000367178	NM_014892.3	52	Cag/Gag	0	1	1	UPI0000070A1C	0	getma.org/pdb.php?prot=SCAF8_HUMAN&from=1&to=139&var=Q52E	ENST00000367178		ENSG00000213079	20959		18	1.89		HGNC	p.Q52E		SCAF8		SNV							ENST00000367178	protein_coding	getma.org/?cm=var&var=hg19,6,155099174,C,G&fts=all		PROSITE_profiles:PS51391,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124,Gene3D:1.25.40.90,SMART_domains:SM00582,Superfamily_domains:SSF48464		Q/E		G	low	730/5055		getma.org/?cm=msa&ty=f&p=SCAF8_HUMAN&rb=1&re=139&var=Q52E	deleterious(0.02)	Q9H8B2_HUMAN,Q8NDE9_HUMAN			YES	SCAF8,missense_variant,p.Gln52Glu,ENST00000367178,NM_014892.3,NM_001286194.1;SCAF8,missense_variant,p.Gln52Glu,ENST00000417268,NM_001286188.1,NM_001286199.1;SCAF8,missense_variant,p.Gln118Glu,ENST00000367186,NM_001286189.1;SCAF8,non_coding_transcript_exon_variant,,ENST00000461219,;SCAF8,non_coding_transcript_exon_variant,,ENST00000464628,;							MODERATE	154/3816	Q52E	SCAF8_HUMAN			Transcript		unknown(0)	.	ENSP00000356146		CCDS5247.1			1	
ZNF99	0	LGGM	GRCh37	19	22942062	22942062	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	27	6	.	.	ENST00000596209.1:c.649A>G	p.Ile217Val	p.I217V	ENST00000596209	NM_001080409.2	217	Att/Gtt	0	1	1	UPI0000426011	0		ENST00000596209		ENSG00000213973	13175		33			HGNC	p.I217V	rs774249145	ZNF99		SNV							ENST00000596209	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157		I/V		C		740/2686	0.000103		tolerated(0.11)	M0R335_HUMAN			YES	ZNF99,missense_variant,p.Ile217Val,ENST00000596209,NM_001080409.2;ZNF99,intron_variant,,ENST00000397104,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODERATE	649/2595					Transcript		benign(0.044)	.	ENSP00000472969	9.00E-06	CCDS59369.1			1	
CHST15	0	LGGM	GRCh37	10	125798123	125798123	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	19	6	.	.	ENST00000346248.5:c.1098G>A	p.Thr366=	p.T366=	ENST00000346248	NM_015892.4	366	acG/acA	0	1	1	UPI000004D06B	0		ENST00000346248		ENSG00000182022	18137	8.64E-05	25			HGNC	p.T366T	rs775993502	CHST15	0.00151	SNV							ENST00000421115	protein_coding			hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		T		T		1741/4810	1.50E-05						YES	CHST15,synonymous_variant,p.=,ENST00000346248,NM_015892.4;CHST15,synonymous_variant,p.=,ENST00000435907,NM_001270764.1;CHST15,synonymous_variant,p.=,ENST00000421115,NM_001270765.1,NM_014863.3;CHST15,non_coding_transcript_exon_variant,,ENST00000476765,;							LOW	1098/1686		CHSTF_HUMAN			Transcript			common_variant	ENSP00000333947	0.000247	CCDS7638.1	0.00331		1	
OR11H6	0	LGGM	GRCh37	14	20692084	20692084	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	36	6	.	.	ENST00000315519.2:c.216G>A	p.Arg72=	p.R72=	ENST00000315519	NM_001004480.1	72	cgG/cgA	0	1	1	UPI000004B1F1	0		ENST00000315519		ENSG00000176219	15349		42			HGNC	p.R72R		OR11H6		SNV							ENST00000315519	protein_coding			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321		R		A		294/1174							YES	OR11H6,synonymous_variant,p.=,ENST00000315519,NM_001004480.1;							LOW	216/993		O11H6_HUMAN			Transcript			.	ENSP00000319071		CCDS32033.1			1	
ANO4	0	LGGM	GRCh37	12	101505366	101505366	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	28	7	.	.	ENST00000392979.3:c.2223C>A	p.Gly741=	p.G741=	ENST00000392979	NM_178826.3	741	ggC/ggA	0	1		UPI0000577AB6	0		ENST00000392977		ENSG00000151572	23837		35			HGNC	p.G296G		ANO4		SNV							ENST00000299222	protein_coding			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Transmembrane_helices:TMhelix		G		A		2538/3509								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,;							LOW	2328/2868		ANO4_HUMAN			Transcript			.	ENSP00000376703		CCDS66445.1			1	
MXRA5	0	LGGM	GRCh37	X	3239466	3239466	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	6	7	.	.	ENST00000217939.6:c.4260C>A	p.Ser1420=	p.S1420=	ENST00000217939	NM_015419.3	1420	tcC/tcA	0	1	1	UPI000013C73B	0		ENST00000217939		ENSG00000101825	7539		13			HGNC	p.S1420S		MXRA5		SNV							ENST00000217939	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582		S		T		4415/9793							YES	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;							LOW	4260/8487		MXRA5_HUMAN			Transcript			.	ENSP00000217939		CCDS14124.1			1	
GABRG1	0	LGGM	GRCh37	4	46060366	46060366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	28	7	.	.	ENST00000295452.4:c.784A>G	p.Ile262Val	p.I262V	ENST00000295452	NM_173536.3	262	Att/Gtt	0	1	1	UPI0000047AE2	0	NA	ENST00000295452		ENSG00000163285	4086		35	-0.48		HGNC	p.I262V		GABRG1		SNV							ENST00000295452	protein_coding	getma.org/?cm=var&var=hg19,4,46060366,T,C&fts=all		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860		I/V		C	neutral	952/6785		getma.org/?cm=msa&ty=f&p=GBRG1_HUMAN&rb=64&re=270&var=I262V	tolerated(1)				YES	GABRG1,missense_variant,p.Ile262Val,ENST00000295452,NM_173536.3;							MODERATE	784/1398	I262V	GBRG1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000295452		CCDS3470.1			1	
ANXA9	0	LGGM	GRCh37	1	150967084	150967084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	141	7	.	.	ENST00000368947.4:c.884G>A	p.Arg295His	p.R295H	ENST00000368947	NM_003568.2	295	cGc/cAc	0	1	1	UPI0000035D92	0	getma.org/pdb.php?prot=ANXA9_HUMAN&from=274&to=339&var=R295H	ENST00000368947		ENSG00000143412	547		148	3.57		HGNC	p.R295H	rs762053543,COSM3965794	ANXA9	6.06E-05	SNV						0,1	ENST00000368947	protein_coding	getma.org/?cm=var&var=hg19,1,150967084,G,A&fts=all		Prints_domain:PR00196,Superfamily_domains:SSF47874,SMART_domains:SM00335,Gene3D:1.10.220.10,Pfam_domain:PF00191,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF12		R/H		A	high	1360/1826	1.50E-05	getma.org/?cm=msa&ty=f&p=ANXA9_HUMAN&rb=274&re=339&var=R295H	deleterious(0)				YES	ANXA9,missense_variant,p.Arg295His,ENST00000368947,NM_003568.2;FAM63A,downstream_gene_variant,,ENST00000361936,NM_018379.4;FAM63A,downstream_gene_variant,,ENST00000312210,NM_001163260.1,NM_001040217.2,NM_001163259.1;FAM63A,downstream_gene_variant,,ENST00000361738,NM_001163258.1;FAM63A,downstream_gene_variant,,ENST00000493834,;FAM63A,downstream_gene_variant,,ENST00000497067,;FAM63A,downstream_gene_variant,,ENST00000470877,;	0.000116				0,1		MODERATE	884/1038	R295H	ANXA9_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000357943	2.47E-05	CCDS975.2			1	
PNMAL1	0	LGGM	GRCh37	19	46974183	46974183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	25	7	.	.	ENST00000313683.10:c.110C>A	p.Ala37Glu	p.A37E	ENST00000313683	NM_018215.3	37	gCa/gAa	0	1	1	UPI0000231C97	0	NA	ENST00000313683		ENSG00000182013	25578		32	1.755		HGNC	p.A37E		PNMAL1		SNV							ENST00000313683	protein_coding	getma.org/?cm=var&var=hg19,19,46974183,G,T&fts=all		Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF21		A/E		T	low	416/3689		getma.org/?cm=msa&ty=f&p=PNML1_HUMAN&rb=2&re=213&var=A37E	tolerated(0.19)				YES	PNMAL1,missense_variant,p.Ala37Glu,ENST00000313683,NM_018215.3,NM_001103149.1;PNMAL1,missense_variant,p.Ala37Glu,ENST00000438932,;PNMAL1,missense_variant,p.Ala37Glu,ENST00000602246,;							MODERATE	110/1320	A37E	PNML1_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000318131		CCDS33059.1			1	
HEATR4	0	LGGM	GRCh37	14	73973244	73973244	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	64	7	.	.	ENST00000553558.1:c.1913T>C	p.Leu638Pro	p.L638P	ENST00000553558	NM_001220484.1	638	cTg/cCg	0	1		UPI00001FD7FD	0	NA	ENST00000334988		ENSG00000187105	16761		71	1.735		HGNC	p.L638P		HEATR4		SNV							ENST00000553558	protein_coding	getma.org/?cm=var&var=hg19,14,73973244,A,G&fts=all		hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		L/P		G	low	2182/3469		getma.org/?cm=msa&ty=f&p=HEAT4_HUMAN&rb=513&re=712&var=L638P	deleterious(0)	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN				HEATR4,missense_variant,p.Leu638Pro,ENST00000553558,NM_001220484.1;HEATR4,missense_variant,p.Leu638Pro,ENST00000334988,NM_203309.2;HEATR4,missense_variant,p.Leu591Pro,ENST00000560393,;							MODERATE	1913/3081	L638P	HEAT4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000335447		CCDS9815.2			1	
UBR1	0	LGGM	GRCh37	15	43290450	43290450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	39	7	.	.	ENST00000290650.4:c.3673G>A	p.Ala1225Thr	p.A1225T	ENST00000290650	NM_174916.2	1225	Gct/Act	0	1	1	UPI0000074467	0	NA	ENST00000290650		ENSG00000159459	16808		46	1.895		HGNC	p.A1225T		UBR1		SNV			1				ENST00000290650	protein_coding	getma.org/?cm=var&var=hg19,15,43290450,C,T&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF27		A/T		T	low	3752/7761		getma.org/?cm=msa&ty=f&p=UBR1_HUMAN&rb=1103&re=1302&var=A1225T	tolerated(0.75)				YES	UBR1,missense_variant,p.Ala1225Thr,ENST00000290650,NM_174916.2;UBR1,3_prime_UTR_variant,,ENST00000382177,;UBR1,upstream_gene_variant,,ENST00000566493,;							MODERATE	3673/5250	A1225T	UBR1_HUMAN			Transcript		benign(0.004)	.	ENSP00000290650		CCDS10091.1			1	
KCNH5	0	LGGM	GRCh37	14	63447707	63447707	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	47	7	.	.	ENST00000322893.7:c.825A>T	p.Gly275=	p.G275=	ENST00000322893	NM_139318.4	275	ggA/ggT	0	1	1	UPI0000039E2D	0		ENST00000322893		ENSG00000140015	6254		54			HGNC	p.G275G		KCNH5		SNV							ENST00000322893	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,Superfamily_domains:SSF81324		G		A		1094/4175							YES	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,;							LOW	825/2967		KCNH5_HUMAN			Transcript			.	ENSP00000321427		CCDS9756.1			1	
SALL2	0	LGGM	GRCh37	14	21992263	21992263	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	19	7	.	.	ENST00000327430.3:c.1599C>A	p.Gly533=	p.G533=	ENST00000327430	NM_005407.1	533	ggC/ggA	0	1	1	UPI00001AF54D	0		ENST00000327430		ENSG00000165821	10526		26			HGNC	p.G396G		SALL2		SNV			1				ENST00000450879	protein_coding			hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233		G		T		1894/4925				F5H1G6_HUMAN			YES	SALL2,synonymous_variant,p.=,ENST00000327430,NM_005407.1;SALL2,synonymous_variant,p.=,ENST00000450879,;SALL2,synonymous_variant,p.=,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,;							LOW	1599/3024		SALL2_HUMAN			Transcript			.	ENSP00000333537		CCDS32045.1			1	
HEY2	0	LGGM	GRCh37	6	126072982	126072982	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	39	8	.	.	ENST00000368364.3:c.119C>T	p.Pro40Leu	p.P40L	ENST00000368364	NM_012259.2	40	cCa/cTa	0	1	1	UPI0000037AFE	0	NA	ENST00000368364		ENSG00000135547	4881		47	1.845		HGNC	p.P40L		HEY2		SNV							ENST00000368364	protein_coding	getma.org/?cm=var&var=hg19,6,126072982,C,T&fts=all		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF79		P/L		T	low	316/2678		getma.org/?cm=msa&ty=f&p=HEY2_HUMAN&rb=1&re=48&var=P40L	deleterious(0.01)	Q5TF93_HUMAN,B4E1L3_HUMAN			YES	HEY2,missense_variant,p.Pro40Leu,ENST00000368364,NM_012259.2;HEY2,5_prime_UTR_variant,,ENST00000368365,;RP11-624M8.1,upstream_gene_variant,,ENST00000606001,;RP11-624M8.1,upstream_gene_variant,,ENST00000451660,;RP11-624M8.1,upstream_gene_variant,,ENST00000432121,;							MODERATE	119/1014	P40L	HEY2_HUMAN			Transcript		possibly_damaging(0.692)	.	ENSP00000357348		CCDS5131.1			1	
TTC26	0	LGGM	GRCh37	7	138854042	138854042	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	37	8	.	.	ENST00000464848.1:c.1013A>G	p.His338Arg	p.H338R	ENST00000464848	NM_001287513.1	338	cAt/cGt	0	1	1	UPI000020FBAD	0	NA	ENST00000464848		ENSG00000105948	21882		45	2.99		HGNC	p.H338R		TTC26		SNV							ENST00000430935	protein_coding	getma.org/?cm=var&var=hg19,7,138854042,A,G&fts=all		hmmpanther:PTHR14781,hmmpanther:PTHR14781:SF0,Gene3D:1.25.40.10		H/R		G	medium	1093/4299		getma.org/?cm=msa&ty=f&p=TTC26_HUMAN&rb=228&re=427&var=H338R	deleterious(0.02)	B7Z1H0_HUMAN			YES	TTC26,missense_variant,p.His338Arg,ENST00000464848,NM_001287513.1;TTC26,missense_variant,p.His338Arg,ENST00000430935,NM_024926.2,NM_001144920.1;TTC26,missense_variant,p.His307Arg,ENST00000343187,NM_001144923.1;TTC26,missense_variant,p.His231Arg,ENST00000478836,;TTC26,missense_variant,p.His207Arg,ENST00000495038,;TTC26,downstream_gene_variant,,ENST00000481482,;TTC26,3_prime_UTR_variant,,ENST00000476296,;RP11-365F18.3,downstream_gene_variant,,ENST00000489759,;							MODERATE	1013/1665	H338R	TTC26_HUMAN			Transcript		benign(0.374)	.	ENSP00000419279		CCDS5852.1			1	
CNTNAP2	0	LGGM	GRCh37	7	146829458	146829458	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	50	9	.	.	ENST00000361727.3:c.1205G>A	p.Arg402Lys	p.R402K	ENST00000361727	NM_014141.5	402	aGg/aAg	0	1	1	UPI00001285FA	0	getma.org/pdb.php?prot=CNTP2_HUMAN&from=401&to=529&var=R402K	ENST00000361727		ENSG00000174469	13830		59	2.37		HGNC	p.R402K		CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,146829458,G,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899		R/K		A	medium	1721/9894		getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=401&re=529&var=R402K	deleterious(0.01)	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			YES	CNTNAP2,missense_variant,p.Arg402Lys,ENST00000361727,NM_014141.5;							MODERATE	1205/3996	R402K	CNTP2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000354778		CCDS5889.1			1	
OR2S2	0	LGGM	GRCh37	9	35957707	35957707	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	31	9	.	.	ENST00000341959.2:c.389C>T	p.Pro130Leu	p.P130L	ENST00000341959	NM_019897.2	130	cCc/cTc	0	1	1	UPI000003FF74	0	getma.org/pdb.php?prot=OR2S1_HUMAN&from=1&to=139&var=P130L	ENST00000341959		ENSG00000122718	8276		40	3.32		HGNC	p.P130L	rs766667373	OR2S2	0.000182	SNV							ENST00000341959	protein_coding	getma.org/?cm=var&var=hg19,9,35957707,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF176,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		P/L		A	medium	445/1047		getma.org/?cm=msa&ty=f&p=OR2S1_HUMAN&rb=1&re=139&var=P130L	deleterious(0)				YES	OR2S2,missense_variant,p.Pro130Leu,ENST00000341959,NM_019897.2;							MODERATE	389/960	P130L	OR2S1_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000344040	2.47E-05	CCDS6596.2			1	
CCDC116	0	LGGM	GRCh37	22	21988596	21988605	+	frameshift_variant	Frame_Shift_Del	DEL	GGTGGACGGC	GGTGGACGGC	-	novel	by Submitter	H050420	H050420N.bam	GGTGGACGGC	GGTGGACGGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	21	9	.	.	ENST00000292779.3:c.360_369del	p.Gly121HisfsTer55	p.G121Hfs*55	ENST00000292779	NM_152612.2	120	GGTGGACGGCgg/gg	0	1	1	UPI00000741C9	0		ENST00000292779		ENSG00000161180	26688		30			HGNC	p.120_123del		CCDC116		deletion							ENST00000292779	protein_coding					GGRR/X		-		519-528/2260							YES	CCDC116,frameshift_variant,p.Gly121HisfsTer55,ENST00000292779,NM_152612.2;CCDC116,frameshift_variant,p.Gly121HisfsTer55,ENST00000607942,;YDJC,upstream_gene_variant,,ENST00000292778,NM_001017964.1;YDJC,upstream_gene_variant,,ENST00000398873,;CCDC116,downstream_gene_variant,,ENST00000425975,;YDJC,upstream_gene_variant,,ENST00000464015,;YDJC,upstream_gene_variant,,ENST00000473985,;YDJC,upstream_gene_variant,,ENST00000468686,;YDJC,upstream_gene_variant,,ENST00000415762,;YDJC,upstream_gene_variant,,ENST00000482998,;							HIGH	358-367/1842		CC116_HUMAN			Transcript	2		.	ENSP00000292779		CCDS13791.1			1	
PRDM14	0	LGGM	GRCh37	8	70978496	70978496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	21	9	.	.	ENST00000276594.2:c.1157G>T	p.Gly386Val	p.G386V	ENST00000276594	NM_024504.3	386	gGg/gTg	0	1	1	UPI0000132186	0	NA	ENST00000276594		ENSG00000147596	14001		30	0.55		HGNC	p.G386V	COSM1552806	PRDM14		SNV						1	ENST00000276594	protein_coding	getma.org/?cm=var&var=hg19,8,70978496,C,A&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354		G/V		A	neutral	1359/2344		getma.org/?cm=msa&ty=f&p=PRD14_HUMAN&rb=368&re=399&var=G386V	deleterious(0.02)	C9JMM8_HUMAN			YES	PRDM14,missense_variant,p.Gly386Val,ENST00000276594,NM_024504.3;PRDM14,downstream_gene_variant,,ENST00000426346,;					1		MODERATE	1157/1716	G386V	PRD14_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000276594		CCDS6206.1			1	
ZNF852	0	LGGM	GRCh37	3	44540712	44540712	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	54	9	.	.	ENST00000436261.1:c.1557G>T	p.Leu519=	p.L519=	ENST00000436261	NM_001287349.1	519	ctG/ctT	0	1	1	UPI000198C97D	0		ENST00000436261		ENSG00000178917	27713		63			HGNC	p.G519X		ZNF852		SNV							ENST00000313378	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF192		L		A		1718/1968							YES	ZNF852,synonymous_variant,p.=,ENST00000436261,NM_001287349.1;ZNF852,downstream_gene_variant,,ENST00000489411,;ZNF852,downstream_gene_variant,,ENST00000463067,;							LOW	1557/1632		ZN852_HUMAN			Transcript			.	ENSP00000389841					1	
CXCR4	0	LGGM	GRCh37	2	136873409	136873409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	43	10	.	.	ENST00000241393.3:c.89G>T	p.Arg30Leu	p.R30L	ENST00000241393	NM_003467.2	30	cGt/cTt	0	1		UPI000000106C	0	getma.org/pdb.php?prot=CXCR4_HUMAN&from=6&to=38&var=R30L	ENST00000241393		ENSG00000121966	2561		53	0.55		HGNC	p.R30L		CXCR4		SNV			1				ENST00000241393	protein_coding	getma.org/?cm=var&var=hg19,2,136873409,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF12109,Prints_domain:PR00645,Prints_domain:PR00657,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF7,Superfamily_domains:SSF81321		R/L		A	neutral	194/1682		getma.org/?cm=msa&ty=f&p=CXCR4_HUMAN&rb=6&re=38&var=R30L	tolerated(0.43)	Q5MIL4_HUMAN				CXCR4,missense_variant,p.Arg34Leu,ENST00000409817,NM_001008540.1;CXCR4,missense_variant,p.Arg30Leu,ENST00000241393,NM_003467.2;CXCR4,non_coding_transcript_exon_variant,,ENST00000466288,;							MODERATE	89/1059	R30L	CXCR4_HUMAN			Transcript		benign(0.051)	.	ENSP00000241393		CCDS46420.1			1	
TPM4	0	LGGM	GRCh37	19	16178509	16178509	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	28	10	.	.	ENST00000538887.1:c.75G>A	p.Ala25=	p.A25=	ENST00000538887		25	gcG/gcA	0	1	1	UPI000002B5B9	0		ENST00000538887		ENSG00000167460	12013		38			HGNC	p.A25A		TPM4		SNV			1				ENST00000344824	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269:SF40,hmmpanther:PTHR19269,Gene3D:1.20.5.340,Superfamily_domains:SSF57997		A		A		162/1542				K7EPV9_HUMAN,K7EMU5_HUMAN,K7ELP0_HUMAN			YES	TPM4,synonymous_variant,p.=,ENST00000538887,;TPM4,synonymous_variant,p.=,ENST00000344824,NM_001145160.1;TPM4,synonymous_variant,p.=,ENST00000589897,;TPM4,upstream_gene_variant,,ENST00000586499,;CTD-2231E14.4,downstream_gene_variant,,ENST00000585520,;							LOW	75/855		TPM4_HUMAN			Transcript			.	ENSP00000439135		CCDS46007.1			1	
RYR1	0	LGGM	GRCh37	19	39051990	39051990	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	15	10	.	.	ENST00000359596.3:c.12520C>T	p.Arg4174Cys	p.R4174C	ENST00000359596		4174	Cgc/Tgc	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		25	1.95		HGNC	p.R4169C		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,39051990,C,T&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		R/C		T	medium	12520/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=4135&re=4334&var=R4174C		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Arg4169Cys,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Arg4169Cys,ENST00000360985,;RYR1,missense_variant,p.Arg4174Cys,ENST00000359596,;RYR1,3_prime_UTR_variant,,ENST00000594335,;							MODERATE	12520/15117	R4174C	RYR1_HUMAN			Transcript		benign(0.428)	.	ENSP00000352608		CCDS33011.1			1	
CCDC116	0	LGGM	GRCh37	22	21988593	21988593	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	19	10	.	.	ENST00000292779.3:c.355A>C	p.Ser119Arg	p.S119R	ENST00000292779	NM_152612.2	119	Agt/Cgt	0	1	1	UPI00000741C9	0	NA	ENST00000292779		ENSG00000161180	26688		29	0.09		HGNC	p.S119R		CCDC116		SNV							ENST00000292779	protein_coding	getma.org/?cm=var&var=hg19,22,21988593,A,C&fts=all				S/R		C	neutral	516/2260		getma.org/?cm=msa&ty=f&p=CC116_HUMAN&rb=1&re=510&var=S119R	tolerated(0.77)				YES	CCDC116,missense_variant,p.Ser119Arg,ENST00000292779,NM_152612.2;CCDC116,missense_variant,p.Ser119Arg,ENST00000607942,;YDJC,upstream_gene_variant,,ENST00000292778,NM_001017964.1;YDJC,upstream_gene_variant,,ENST00000398873,;CCDC116,downstream_gene_variant,,ENST00000425975,;YDJC,upstream_gene_variant,,ENST00000464015,;YDJC,upstream_gene_variant,,ENST00000473985,;YDJC,upstream_gene_variant,,ENST00000468686,;YDJC,upstream_gene_variant,,ENST00000415762,;YDJC,upstream_gene_variant,,ENST00000482998,;							MODERATE	355/1842	S119R	CC116_HUMAN			Transcript		benign(0.007)	.	ENSP00000292779		CCDS13791.1			1	
ZBTB1	0	LGGM	GRCh37	14	64989444	64989444	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	37	10	.	.	ENST00000394712.2:c.1222C>T	p.Pro408Ser	p.P408S	ENST00000394712	NM_001123329.1	408	Cct/Tct	0	1		UPI00001FD6B2	0	NA	ENST00000554015		ENSG00000126804	20259		47	0.345		HGNC	p.P408S		ZBTB1		SNV							ENST00000394712	protein_coding	getma.org/?cm=var&var=hg19,14,64989444,C,T&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF326		P/S		T	neutral	1653/2825		getma.org/?cm=msa&ty=f&p=ZBTB1_HUMAN&rb=330&re=529&var=P408S	tolerated(0.15)	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN				ZBTB1,missense_variant,p.Pro408Ser,ENST00000358738,NM_014950.2;ZBTB1,missense_variant,p.Pro408Ser,ENST00000394712,NM_001123329.1;ZBTB1,missense_variant,p.Pro408Ser,ENST00000554015,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;							MODERATE	1222/2142	P408S	ZBTB1_HUMAN			Transcript		benign(0.133)	.	ENSP00000451000		CCDS45126.1			1	
KNOP1	0	LGGM	GRCh37	16	19722706	19722706	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	34	10	.	.	ENST00000219837.7:c.975G>A	p.Ala325=	p.A325=	ENST00000219837	NM_001012991.2	325	gcG/gcA	0	1	1	UPI00001982F5	0		ENST00000219837		ENSG00000103550	34404		44			HGNC	p.A4A	rs780918991	KNOP1	6.07E-05	SNV							ENST00000568230	protein_coding			hmmpanther:PTHR22426		A		T		1054/4786	9.02E-05			H3BNU8_HUMAN,H3BMC9_HUMAN			YES	KNOP1,synonymous_variant,p.=,ENST00000219837,NM_001012991.2;KNOP1,synonymous_variant,p.=,ENST00000568230,;KNOP1,intron_variant,,ENST00000567367,;C16orf62,downstream_gene_variant,,ENST00000542027,;KNOP1,downstream_gene_variant,,ENST00000564480,;AC002550.5,intron_variant,,ENST00000565916,;KNOP1,non_coding_transcript_exon_variant,,ENST00000565844,;							LOW	975/1377		KNOP1_HUMAN			Transcript			.	ENSP00000219837	5.77E-05	CCDS42127.1			1	
R3HCC1L	0	LGGM	GRCh37	10	99995797	99995797	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	27	10	.	.	ENST00000298999.3:c.2145A>G	p.Ala715=	p.A715=	ENST00000298999	NM_014472.4	715	gcA/gcG	0	1	1	UPI00001F94F0	0		ENST00000298999		ENSG00000166024	23512		37			HGNC	p.A121A		R3HCC1L		SNV							ENST00000370586	protein_coding			hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF2		A		G		2448/3379							YES	R3HCC1L,synonymous_variant,p.=,ENST00000314594,NM_001256619.1;R3HCC1L,synonymous_variant,p.=,ENST00000298999,NM_014472.4;R3HCC1L,synonymous_variant,p.=,ENST00000370584,NM_001256620.1,NM_138469.2;R3HCC1L,synonymous_variant,p.=,ENST00000370586,NM_001256621.1;							LOW	2145/2337		R3HCL_HUMAN			Transcript			.	ENSP00000298999		CCDS31267.1			1	
CYP3A5	0	LGGM	GRCh37	7	99262931	99262931	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	65	10	.	.	ENST00000222982.4:c.528T>C	p.Phe176=	p.F176=	ENST00000222982	NM_000777.3	176	ttT/ttC	0	1	1	UPI000000163D	0		ENST00000222982		ENSG00000106258	2638		75			HGNC	p.F166F		CYP3A5		SNV			1				ENST00000343703	protein_coding			Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR01689,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF3,Superfamily_domains:SSF48264		F		G		628/1720				Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN			YES	CYP3A5,synonymous_variant,p.=,ENST00000343703,;CYP3A5,synonymous_variant,p.=,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,;							LOW	528/1509		CP3A5_HUMAN			Transcript			.	ENSP00000222982		CCDS5672.1			1	
EYS	0	LGGM	GRCh37	6	66205084	66205084	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	75	10	.	.	ENST00000503581.1:c.220G>A	p.Val74Ile	p.V74I	ENST00000503581	NM_001142800.1	74	Gtt/Att	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		85	0.205		HGNC	p.V74I		EYS		SNV			1				ENST00000342421	protein_coding	getma.org/?cm=var&var=hg19,6,66205084,C,T&fts=all				V/I		T	neutral	220/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=1&re=139&var=V74I	tolerated_low_confidence(0.11)					EYS,missense_variant,p.Val74Ile,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Val74Ile,ENST00000370621,;EYS,missense_variant,p.Val74Ile,ENST00000370616,;EYS,missense_variant,p.Val74Ile,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Val74Ile,ENST00000370618,;EYS,missense_variant,p.Val74Ile,ENST00000342421,NM_198283.1;EYS,5_prime_UTR_variant,,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;							MODERATE	220/9498	V74I	EYS_HUMAN			Transcript		benign(0.417)	.	ENSP00000359650					1	
ETV5	0	LGGM	GRCh37	3	185769889	185769889	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	54	11	.	.	ENST00000306376.5:c.1241G>T	p.Arg414Leu	p.R414L	ENST00000306376	NM_004454.2	414	cGg/cTg	0	1	1	UPI000012A175	0	getma.org/pdb.php?prot=ETV5_HUMAN&from=367&to=450&var=R414L	ENST00000306376		ENSG00000244405	3494		65	3.06		HGNC	p.R414L		ETV5		SNV							ENST00000434744	protein_coding	getma.org/?cm=var&var=hg19,3,185769889,C,A&fts=all		PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF166,PROSITE_patterns:PS00346,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454		R/L		A	medium	1488/4111		getma.org/?cm=msa&ty=f&p=ETV5_HUMAN&rb=367&re=450&var=R414L	deleterious(0)	C9JMF0_HUMAN,C9J5A5_HUMAN,C9J0Z2_HUMAN			YES	ETV5,missense_variant,p.Arg414Leu,ENST00000306376,NM_004454.2;ETV5,missense_variant,p.Arg414Leu,ENST00000434744,;ETV5,missense_variant,p.Arg456Leu,ENST00000537818,;ETV5,non_coding_transcript_exon_variant,,ENST00000480706,;ETV5,synonymous_variant,p.=,ENST00000433149,;							MODERATE	1241/1533	R414L	ETV5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306894		CCDS33906.1			1	
CHD8	0	LGGM	GRCh37	14	21861899	21861899	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	26	11	.	.	ENST00000399982.2:c.6055C>G	p.Leu2019Val	p.L2019V	ENST00000399982	NM_001170629.1	2019	Ctg/Gtg	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		37	-0.805		HGNC	p.L2019V		CHD8		SNV			1				ENST00000557364	protein_coding	getma.org/?cm=var&var=hg19,14,21861899,G,C&fts=all				L/V		C	neutral	6120/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1972&re=2119&var=L2019V	tolerated_low_confidence(0.39)				YES	CHD8,missense_variant,p.Leu2019Val,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Leu2019Val,ENST00000557364,;CHD8,missense_variant,p.Leu1740Val,ENST00000430710,NM_020920.3;CHD8,upstream_gene_variant,,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,NR_002916.2;SNORD9,upstream_gene_variant,,ENST00000362566,NR_003029.2;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000555301,;CHD8,downstream_gene_variant,,ENST00000557329,;							MODERATE	6055/7746	L2019V	CHD8_HUMAN			Transcript		benign(0.364)	.	ENSP00000382863		CCDS53885.1			1	
RC3H2	0	LGGM	GRCh37	9	125627654	125627654	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	20	11	.	.	ENST00000373670.1:c.1608G>T	p.Gly536=	p.G536=	ENST00000373670		536	ggG/ggT	0	1		UPI0000048D91	0		ENST00000357244		ENSG00000056586	21461		31			HGNC	p.G536G		RC3H2		SNV							ENST00000423239	protein_coding			hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2		G		A		1849/3991								RC3H2,synonymous_variant,p.=,ENST00000373670,;RC3H2,synonymous_variant,p.=,ENST00000357244,NM_001100588.1;RC3H2,synonymous_variant,p.=,ENST00000423239,NM_018835.2;RC3H2,downstream_gene_variant,,ENST00000373665,;RC3H2,3_prime_UTR_variant,,ENST00000498479,;							LOW	1608/3576		RC3H2_HUMAN			Transcript			.	ENSP00000349783		CCDS43874.1			1	
RNF8	0	LGGM	GRCh37	6	37344779	37344779	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	38	11	.	.	ENST00000373479.4:c.1206A>T	p.Gln402His	p.Q402H	ENST00000373479	NM_003958.3	402	caA/caT	0	1	1	UPI000013437B	0	getma.org/pdb.php?prot=RNF8_HUMAN&from=401&to=443&var=Q402H	ENST00000373479		ENSG00000112130	10071		49	1.635		HGNC	p.Q402H		RNF8		SNV							ENST00000373479	protein_coding	getma.org/?cm=var&var=hg19,6,37344779,A,T&fts=all		Superfamily_domains:SSF57850,PIRSF_domain:PIRSF037950,Pfam_domain:PF13639,Gene3D:3.30.40.10,hmmpanther:PTHR15067:SF4,hmmpanther:PTHR15067		Q/H		T	low	1399/5631		getma.org/?cm=msa&ty=f&p=RNF8_HUMAN&rb=401&re=443&var=Q402H	deleterious(0)	C9J858_HUMAN			YES	RNF8,missense_variant,p.Gln402His,ENST00000373479,NM_003958.3,NM_183078.2;RNF8,missense_variant,p.Gln402His,ENST00000469731,;RNF8,missense_variant,p.Gln162His,ENST00000498460,;RNF8,3_prime_UTR_variant,,ENST00000229866,;							MODERATE	1206/1458	Q402H	RNF8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362578		CCDS4834.1			1	
WWC1	0	LGGM	GRCh37	5	167891958	167891958	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	13	11	.	.	ENST00000521089.1:c.3159G>T	p.Leu1053=	p.L1053=	ENST00000521089		1053	ctG/ctT	0	1		UPI000007443D	0		ENST00000265293		ENSG00000113645	29435		24			HGNC	p.L1053L		WWC1		SNV							ENST00000521089	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22		L		T		3643/7130								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,,ENST00000521391,;WWC1,upstream_gene_variant,,ENST00000518204,;							LOW	3141/3342		KIBRA_HUMAN			Transcript			.	ENSP00000265293		CCDS4366.1			1	
CNTNAP3	0	LGGM	GRCh37	9	39103773	39103773	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	27	11	.	.	ENST00000297668.6:c.2504G>T	p.Gly835Val	p.G835V	ENST00000297668	NM_033655.3	835	gGg/gTg	0	1	1	UPI000013E43B	0	getma.org/pdb.php?prot=CNTP3_HUMAN&from=821&to=940&var=G835V	ENST00000297668		ENSG00000106714	13834		38	4.3		HGNC	p.G747V		CNTNAP3		SNV							ENST00000358144	protein_coding	getma.org/?cm=var&var=hg19,9,39103773,C,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		G/V		A	high	2578/5064		getma.org/?cm=msa&ty=f&p=CNTP3_HUMAN&rb=821&re=940&var=G835V	deleterious(0)				YES	CNTNAP3,missense_variant,p.Gly835Val,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Gly747Val,ENST00000358144,;CNTNAP3,missense_variant,p.Gly834Val,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,;							MODERATE	2504/3867	G835V	CNTP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297668		CCDS6616.1			1	
LINGO2	0	LGGM	GRCh37	9	27949215	27949215	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	37	11	.	.	ENST00000379992.2:c.1455T>C	p.Ala485=	p.A485=	ENST00000379992	NM_152570.2	485	gcT/gcC	0	1		UPI000004C7CD	0		ENST00000308675		ENSG00000174482	21207		48			HGNC	p.A485A		LINGO2		SNV							ENST00000379992	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR24373:SF38,hmmpanther:PTHR24373,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		G		1713/2368								LINGO2,synonymous_variant,p.=,ENST00000379992,NM_152570.2;LINGO2,synonymous_variant,p.=,ENST00000308675,;RP11-438B23.2,upstream_gene_variant,,ENST00000566293,;							LOW	1455/1821		LIGO2_HUMAN			Transcript			.	ENSP00000310126		CCDS6524.1			1	
TRIP12	0	LGGM	GRCh37	2	230723492	230723492	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	37	11	.	.	ENST00000283943.5:c.897A>T	p.Leu299Phe	p.L299F	ENST00000283943	NM_004238.1	299	ttA/ttT	0	1	1	UPI000013739D	0	NA	ENST00000283943		ENSG00000153827	12306		48	0.695		HGNC	p.L341F		TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230723492,T,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		L/F		A	neutral	1076/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=1&re=384&var=L299F	deleterious_low_confidence(0)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Leu299Phe,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Leu341Phe,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Leu341Phe,ENST00000409677,;TRIP12,missense_variant,p.Leu140Phe,ENST00000453485,;TRIP12,intron_variant,,ENST00000389045,NM_001284216.1;TRIP12,intron_variant,,ENST00000543084,;TRIP12,downstream_gene_variant,,ENST00000430954,;TRIP12,downstream_gene_variant,,ENST00000435716,;TRIP12,downstream_gene_variant,,ENST00000428959,;TRIP12,downstream_gene_variant,,ENST00000343290,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;							MODERATE	897/5979	L299F	TRIPC_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000283943		CCDS33391.1			1	
SORL1	0	LGGM	GRCh37	11	121489520	121489520	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	62	12	.	.	ENST00000260197.7:c.5642T>G	p.Leu1881Arg	p.L1881R	ENST00000260197	NM_003105.5	1881	cTc/cGc	0	1	1	UPI000013D0B1	0	NA	ENST00000260197		ENSG00000137642	11185		74	1.1		HGNC	p.L727R		SORL1		SNV			1				ENST00000532694	protein_coding	getma.org/?cm=var&var=hg19,11,121489520,T,G&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00060		L/R		G	low	5771/10904		getma.org/?cm=msa&ty=f&p=SORL_HUMAN&rb=1843&re=1927&var=L1881R	deleterious(0)	E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,missense_variant,p.Leu1881Arg,ENST00000260197,NM_003105.5;SORL1,missense_variant,p.Leu825Arg,ENST00000525532,;SORL1,missense_variant,p.Leu727Arg,ENST00000532694,;SORL1,missense_variant,p.Leu791Arg,ENST00000534286,;SORL1,missense_variant,p.Leu496Arg,ENST00000527934,;SORL1,non_coding_transcript_exon_variant,,ENST00000528339,;SORL1,non_coding_transcript_exon_variant,,ENST00000534754,;SORL1,non_coding_transcript_exon_variant,,ENST00000524633,;							MODERATE	5642/6645	L1881R	SORL_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000260197		CCDS8436.1			1	
FBXL17	0	LGGM	GRCh37	5	107216724	107216724	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	68	12	.	.	ENST00000542267.1:c.1965+14A>G		*655*	ENST00000542267	NM_001163315.2			0	1	1	UPI00019B21FB	0		ENST00000542267		ENSG00000145743	13615		80			HGNC	p.Y262C		FBXL17		SNV							ENST00000496714	protein_coding							C		-/5188							YES	FBXL17,missense_variant,p.Tyr262Cys,ENST00000496714,;FBXL17,intron_variant,,ENST00000542267,NM_001163315.2;FBXL17,intron_variant,,ENST00000359660,;							MODIFIER	-/2106		FXL17_HUMAN			Transcript			.	ENSP00000437464		CCDS54886.1			1	
MBD5	0	LGGM	GRCh37	2	149247496	149247496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	55	12	.	.	ENST00000407073.1:c.3596G>T	p.Gly1199Val	p.G1199V	ENST00000407073	NM_018328.4	1199	gGg/gTg	0	1	1	UPI0000208C40	0	NA	ENST00000407073		ENSG00000204406	20444		67	0.695		HGNC	p.G1432V		MBD5		SNV			1				ENST00000404807	protein_coding	getma.org/?cm=var&var=hg19,2,149247496,G,T&fts=all		hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14		G/V		T	neutral	4593/5992		getma.org/?cm=msa&ty=f&p=MBD5_HUMAN&rb=1001&re=1200&var=G1199V	tolerated_low_confidence(0.13)				YES	MBD5,missense_variant,p.Gly1199Val,ENST00000407073,NM_018328.4;MBD5,missense_variant,p.Gly1432Val,ENST00000404807,;MBD5,intron_variant,,ENST00000416015,;MBD5,non_coding_transcript_exon_variant,,ENST00000496893,;							MODERATE	3596/4485	G1199V	MBD5_HUMAN			Transcript		unknown(0)	.	ENSP00000386049		CCDS33302.1			1	
OR4C6	0	LGGM	GRCh37	11	55432797	55432797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	73	13	.	.	ENST00000314259.3:c.155G>T	p.Ser52Ile	p.S52I	ENST00000314259	NM_001004704.1	52	aGt/aTt	0	1	1	UPI0000041868	0	getma.org/pdb.php?prot=OR4C6_HUMAN&from=1&to=136&var=S52I	ENST00000314259		ENSG00000181903	14743		86	1.785		HGNC	p.S52I		OR4C6		SNV							ENST00000314259	protein_coding	getma.org/?cm=var&var=hg19,11,55432797,G,T&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321		S/I		T	low	184/1058		getma.org/?cm=msa&ty=f&p=OR4C6_HUMAN&rb=1&re=136&var=S52I	deleterious_low_confidence(0.04)				YES	OR4C6,missense_variant,p.Ser52Ile,ENST00000314259,NM_001004704.1;							MODERATE	155/930	S52I	OR4C6_HUMAN			Transcript		benign(0.413)	.	ENSP00000324769		CCDS31506.1			1	
ATP12A	0	LGGM	GRCh37	13	25266750	25266750	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	26	13	.	.	ENST00000218548.6:c.1270A>G	p.Ser424Gly	p.S424G	ENST00000218548	NM_001185085.1	424	Agt/Ggt	0	1		UPI000016B154	0	getma.org/pdb.php?prot=AT12A_HUMAN&from=385&to=744&var=S418G	ENST00000381946		ENSG00000075673	13816		39	0.675		HGNC	p.S418G		ATP12A		SNV							ENST00000381946	protein_coding	getma.org/?cm=var&var=hg19,13,25266750,A,G&fts=all		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,Pfam_domain:PF00702,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01106,Superfamily_domains:SSF81660		S/G		G	neutral	1419/3538		getma.org/?cm=msa&ty=f&p=AT12A_HUMAN&rb=385&re=744&var=S418G	tolerated(0.12)					ATP12A,missense_variant,p.Ser424Gly,ENST00000218548,NM_001185085.1,NM_001676.5;ATP12A,missense_variant,p.Ser418Gly,ENST00000381946,;							MODERATE	1252/3120	S418G	AT12A_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000371372		CCDS31948.1			1	
PDZD9	0	LGGM	GRCh37	16	21995852	21995852	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	38	14	.	.	ENST00000537222.2:c.351G>A	p.Arg117=	p.R117=	ENST00000537222	NM_173806.3	117	agG/agA	0	1		UPI0000EADF1E	0		ENST00000424898		ENSG00000155714	28740		52			HGNC	p.R117R		PDZD9		SNV							ENST00000537222	protein_coding			hmmpanther:PTHR22698		R		T		594/1260								PDZD9,synonymous_variant,p.=,ENST00000286143,;PDZD9,synonymous_variant,p.=,ENST00000424898,;PDZD9,synonymous_variant,p.=,ENST00000537222,NM_173806.3;UQCRC2,downstream_gene_variant,,ENST00000268379,NM_003366.2;UQCRC2,downstream_gene_variant,,ENST00000561553,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000563898,;UQCRC2,downstream_gene_variant,,ENST00000561798,;							LOW	531/795		PDZD9_HUMAN			Transcript			.	ENSP00000400514					1	
SUCO	0	LGGM	GRCh37	1	172571878	172571878	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	147	14	.	.	ENST00000263688.3:c.3216T>G	p.Thr1072=	p.T1072=	ENST00000263688	NM_014283.3	1072	acT/acG	0	1	1	UPI0000070BAC	0		ENST00000263688		ENSG00000094975	1240		161			HGNC	p.T1072T	rs771428027	SUCO		SNV							ENST00000263688	protein_coding			hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0		T		G		3435/5556	1.50E-05						YES	SUCO,synonymous_variant,p.=,ENST00000367723,NM_016227.2;SUCO,synonymous_variant,p.=,ENST00000608151,;SUCO,synonymous_variant,p.=,ENST00000263688,NM_014283.3;SUCO,synonymous_variant,p.=,ENST00000610051,NM_001282750.1;SUCO,non_coding_transcript_exon_variant,,ENST00000486569,;							LOW	3216/3765		SUCO_HUMAN			Transcript			.	ENSP00000263688	8.24E-06	CCDS1303.1			1	
SPTA1	0	LGGM	GRCh37	1	158626375	158626375	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	160	14	.	.	ENST00000368147.4:c.2877G>C	p.Arg959=	p.R959=	ENST00000368147	NM_003126.2	959	cgG/cgC	0	1	1	UPI0000458906	0		ENST00000368147		ENSG00000163554	11272		174			HGNC	p.R959R		SPTA1		SNV			1				ENST00000368147	protein_coding			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966		R		G		3058/7999				O60686_HUMAN			YES	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;							LOW	2877/7260		SPTA1_HUMAN			Transcript			.	ENSP00000357129		CCDS41423.1			1	
RCOR2	0	LGGM	GRCh37	11	63682191	63682191	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	67	14	.	.	ENST00000301459.4:c.416A>T	p.Asp139Val	p.D139V	ENST00000301459	NM_173587.3	139	gAc/gTc	0	1	1	UPI000016194C	0	getma.org/pdb.php?prot=RCOR2_HUMAN&from=130&to=181&var=D139V	ENST00000301459		ENSG00000167771	27455		81	2.705		HGNC	p.D139V		RCOR2		SNV							ENST00000301459	protein_coding	getma.org/?cm=var&var=hg19,11,63682191,T,A&fts=all		PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF12,SMART_domains:SM00717,Superfamily_domains:SSF46689		D/V		A	medium	804/2604		getma.org/?cm=msa&ty=f&p=RCOR2_HUMAN&rb=130&re=181&var=D139V	deleterious(0)				YES	RCOR2,missense_variant,p.Asp139Val,ENST00000301459,NM_173587.3;MARK2,downstream_gene_variant,,ENST00000402010,NM_001039469.2;MARK2,downstream_gene_variant,,ENST00000315032,;MARK2,downstream_gene_variant,,ENST00000377809,;MARK2,downstream_gene_variant,,ENST00000413835,;MARK2,downstream_gene_variant,,ENST00000377810,NM_004954.4;RCOR2,upstream_gene_variant,,ENST00000473926,;RCOR2,upstream_gene_variant,,ENST00000489217,;							MODERATE	416/1572	D139V	RCOR2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000301459		CCDS8052.1			1	
PRPF3	0	LGGM	GRCh37	1	150315891	150315891	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	80	14	.	.	ENST00000324862.6:c.1389A>G	p.Lys463=	p.K463=	ENST00000324862	NM_004698.2	463	aaA/aaG	0	1	1	UPI00000729AA	0		ENST00000324862		ENSG00000117360	17348		94			HGNC	p.K463K		PRPF3		SNV			1				ENST00000324862	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14212,Pfam_domain:PF08572		K		G		1554/2433							YES	PRPF3,synonymous_variant,p.=,ENST00000324862,NM_004698.2;PRPF3,synonymous_variant,p.=,ENST00000414970,;PRPF3,3_prime_UTR_variant,,ENST00000543398,;PRPF3,non_coding_transcript_exon_variant,,ENST00000467329,;PRPF3,non_coding_transcript_exon_variant,,ENST00000493553,;PRPF3,upstream_gene_variant,,ENST00000476970,;							LOW	1389/2052		PRPF3_HUMAN			Transcript			.	ENSP00000315379		CCDS951.1			1	
STAB1	0	LGGM	GRCh37	3	52554844	52554844	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	83	15	.	.	ENST00000321725.6:c.5731T>A	p.Phe1911Ile	p.F1911I	ENST00000321725	NM_015136.2	1911	Ttc/Atc	0	1	1	UPI0000140C12	0	NA	ENST00000321725		ENSG00000010327	18628		98	0.345		HGNC	p.F1911I		STAB1		SNV							ENST00000321725	protein_coding	getma.org/?cm=var&var=hg19,3,52554844,T,A&fts=all		hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038		F/I		A	neutral	5807/7928		getma.org/?cm=msa&ty=f&p=STAB1_HUMAN&rb=1867&re=2066&var=F1911I	tolerated(0.11)				YES	STAB1,missense_variant,p.Phe1911Ile,ENST00000321725,NM_015136.2;NT5DC2,downstream_gene_variant,,ENST00000307076,NM_022908.2;NT5DC2,downstream_gene_variant,,ENST00000422318,NM_001134231.1;NT5DC2,downstream_gene_variant,,ENST00000307092,;NT5DC2,downstream_gene_variant,,ENST00000459839,;STAB1,upstream_gene_variant,,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000463947,;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,;STAB1,downstream_gene_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000462741,;NT5DC2,downstream_gene_variant,,ENST00000492555,;NT5DC2,downstream_gene_variant,,ENST00000479024,;NT5DC2,downstream_gene_variant,,ENST00000462261,;STAB1,upstream_gene_variant,,ENST00000462681,;NT5DC2,downstream_gene_variant,,ENST00000466112,;NT5DC2,downstream_gene_variant,,ENST00000478091,;NT5DC2,downstream_gene_variant,,ENST00000469616,;							MODERATE	5731/7713	F1911I	STAB1_HUMAN			Transcript		benign(0.001)	.	ENSP00000312946		CCDS33768.1			1	
TRIOBP	0	LGGM	GRCh37	22	38121427	38121427	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	44	15	.	.	ENST00000406386.3:c.2864C>T	p.Pro955Leu	p.P955L	ENST00000406386	NM_001039141.2	955	cCa/cTa	0	1	1	UPI000067CB88	0	NA	ENST00000406386		ENSG00000100106	17009		59	1.1		HGNC	p.P955L		TRIOBP		SNV			1				ENST00000406386	protein_coding	getma.org/?cm=var&var=hg19,22,38121427,C,T&fts=all		hmmpanther:PTHR17271,hmmpanther:PTHR17271:SF10		P/L		T	low	3119/10129		getma.org/?cm=msa&ty=f&p=TARA_HUMAN&rb=341&re=979&var=P955L	tolerated_low_confidence(0.16)	F6WYE2_HUMAN,F6WMF4_HUMAN			YES	TRIOBP,missense_variant,p.Pro955Leu,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;							MODERATE	2864/7098	P955L	TARA_HUMAN			Transcript		benign(0.021)	.	ENSP00000384312		CCDS43015.1			1	
NLRP7	0	LGGM	GRCh37	19	55439021	55439021	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	51	16	.	.	ENST00000588756.1:c.2933A>G	p.Lys978Arg	p.K978R	ENST00000588756		978	aAg/aGg	0	1		UPI0000046432	0	getma.org/pdb.php?prot=B8JL06_HUMAN&from=77&to=100&var=K97R	ENST00000340844		ENSG00000167634	22947		67	1.21		HGNC	p.K1006R		NLRP7		SNV			1				ENST00000446217	protein_coding	getma.org/?cm=var&var=hg19,19,55439021,T,C&fts=all						C	low	-/3250		getma.org/?cm=msa&ty=f&p=B8JL06_HUMAN&rb=57&re=120&var=K97R		K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN				NLRP7,missense_variant,p.Lys978Arg,ENST00000588756,;NLRP7,missense_variant,p.Lys1006Arg,ENST00000446217,;NLRP7,missense_variant,p.Lys950Arg,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,missense_variant,p.Lys950Arg,ENST00000328092,;NLRP7,missense_variant,p.Lys978Arg,ENST00000592784,;NLRP7,intron_variant,,ENST00000340844,NM_206828.3;NLRP7,intron_variant,,ENST00000590030,;NLRP7,3_prime_UTR_variant,,ENST00000586379,;							MODIFIER	-/2943	K97R	NALP7_HUMAN			Transcript			.	ENSP00000339491		CCDS33109.1			1	
CCNB1	0	LGGM	GRCh37	5	68470234	68470234	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	79	16	.	.	ENST00000256442.5:c.703C>A	p.Gln235Lys	p.Q235K	ENST00000256442	NM_031966.3	235	Cag/Aag	0	1	1	UPI00001275A9	0	getma.org/pdb.php?prot=CCNB1_HUMAN&from=173&to=298&var=Q235K	ENST00000256442		ENSG00000134057	1579		95	2.365		HGNC	p.Q235K		CCNB1		SNV							ENST00000506572	protein_coding	getma.org/?cm=var&var=hg19,5,68470234,C,A&fts=all		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF193,Pfam_domain:PF00134,Gene3D:1.10.472.10,SMART_domains:SM00385,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954		Q/K		A	medium	956/2169		getma.org/?cm=msa&ty=f&p=CCNB1_HUMAN&rb=173&re=298&var=Q235K	deleterious(0)	Q9BPX9_HUMAN			YES	CCNB1,missense_variant,p.Gln235Lys,ENST00000256442,NM_031966.3;CCNB1,missense_variant,p.Gln235Lys,ENST00000506572,;CCNB1,missense_variant,p.Gln235Lys,ENST00000505500,;CCNB1,missense_variant,p.Gln51Lys,ENST00000507798,;CCNB1,intron_variant,,ENST00000508407,;snoU13,downstream_gene_variant,,ENST00000459230,;CCNB1,downstream_gene_variant,,ENST00000503507,;CCNB1,upstream_gene_variant,,ENST00000513102,;							MODERATE	703/1302	Q235K	CCNB1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000256442		CCDS3997.1			1	
HJURP	0	LGGM	GRCh37	2	234749872	234749872	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	36	16	.	.	ENST00000411486.2:c.1554C>T	p.Ser518=	p.S518=	ENST00000411486	NM_018410.3	518	agC/agT	0	1	1	UPI000013CB29	0		ENST00000411486		ENSG00000123485	25444		52			HGNC	p.S464S	rs773409086,COSM1018171	HJURP		SNV						0,1	ENST00000432087	protein_coding			hmmpanther:PTHR15992,Low_complexity_(Seg):seg		S		A		1620/3187							YES	HJURP,synonymous_variant,p.=,ENST00000411486,NM_018410.3;HJURP,synonymous_variant,p.=,ENST00000432087,NM_001282962.1;HJURP,synonymous_variant,p.=,ENST00000441687,NM_001282963.1;HJURP,synonymous_variant,p.=,ENST00000414924,;HJURP,downstream_gene_variant,,ENST00000454020,;HJURP,downstream_gene_variant,,ENST00000434039,;HJURP,upstream_gene_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000453122,;HJURP,downstream_gene_variant,,ENST00000373395,;	0.000116				0,1		LOW	1554/2247		HJURP_HUMAN			Transcript			.	ENSP00000414109	8.24E-06	CCDS33406.1			1	
SPATA19	0	LGGM	GRCh37	11	133715027	133715027	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	25	17	.	.	ENST00000299140.3:c.135+2T>A		p.X45_splice	ENST00000299140	NM_174927.1			0	1	1	UPI000007021D	0		ENST00000299140		ENSG00000166118	30614		42			HGNC	-		SPATA19		SNV							ENST00000299140	protein_coding							T		-/861							YES	SPATA19,splice_donor_variant,,ENST00000299140,NM_174927.1;SPATA19,splice_donor_variant,,ENST00000532889,;							HIGH	135/504		SPT19_HUMAN			Transcript			.	ENSP00000299140		CCDS8493.1			1	
KCNC4	0	LGGM	GRCh37	1	110766155	110766155	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	48	17	.	.	ENST00000369787.3:c.1248C>G	p.Asp416Glu	p.D416E	ENST00000369787	NM_004978.4	416	gaC/gaG	0	1	1	UPI000013CAC8	0	getma.org/pdb.php?prot=KCNC4_HUMAN&from=283&to=471&var=D416E	ENST00000369787		ENSG00000116396	6236		65	-1.02		HGNC	p.D416E		KCNC4		SNV							ENST00000438661	protein_coding	getma.org/?cm=var&var=hg19,1,110766155,C,G&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF126,Superfamily_domains:SSF81324		D/E		G	neutral	1275/3670		getma.org/?cm=msa&ty=f&p=KCNC4_HUMAN&rb=283&re=471&var=D416E	tolerated(1)				YES	KCNC4,missense_variant,p.Asp416Glu,ENST00000369787,NM_004978.4;KCNC4,missense_variant,p.Asp416Glu,ENST00000413138,;KCNC4,missense_variant,p.Asp416Glu,ENST00000438661,NM_001039574.2;KCNC4,intron_variant,,ENST00000412512,;KCNC4,missense_variant,p.Asp416Glu,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;							MODERATE	1248/1908	D416E	KCNC4_HUMAN			Transcript		benign(0.335)	.	ENSP00000358802		CCDS821.1			1	
PXDNL	0	LGGM	GRCh37	8	52370184	52370184	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	64	17	.	.	ENST00000356297.4:c.856G>A	p.Asp286Asn	p.D286N	ENST00000356297	NM_144651.4	286	Gat/Aat	0	1	1	UPI0001AE6ED6	0	getma.org/pdb.php?prot=PXDNL_HUMAN&from=234&to=321&var=D286N	ENST00000356297		ENSG00000147485	26359		81	0.61		HGNC	p.D286N		PXDNL		SNV							ENST00000543296	protein_coding	getma.org/?cm=var&var=hg19,8,52370184,C,T&fts=all		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		D/N		T	neutral	957/4805		getma.org/?cm=msa&ty=f&p=PXDNL_HUMAN&rb=234&re=321&var=D286N	tolerated(0.09)				YES	PXDNL,missense_variant,p.Asp286Asn,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Asp286Asn,ENST00000543296,;							MODERATE	856/4392	D286N	PXDNL_HUMAN			Transcript		benign(0.12)	.	ENSP00000348645		CCDS47855.1			1	
STXBP5L	0	LGGM	GRCh37	3	121132015	121132015	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	35	17	.	.	ENST00000273666.6:c.3031C>A	p.Leu1011Ile	p.L1011I	ENST00000273666	NM_014980.2	1011	Ctt/Att	0	1	1	UPI00001C1DEA	0	NA	ENST00000273666		ENSG00000145087	30757		52	3.125		HGNC	p.L954I		STXBP5L		SNV							ENST00000471262	protein_coding	getma.org/?cm=var&var=hg19,3,121132015,C,A&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,Pfam_domain:PF08596,Superfamily_domains:SSF50978		L/I		A	medium	3302/9496		getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=813&re=1071&var=L1011I	deleterious(0.01)	C9JUZ7_HUMAN			YES	STXBP5L,missense_variant,p.Leu1011Ile,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Leu987Ile,ENST00000471454,;STXBP5L,missense_variant,p.Leu954Ile,ENST00000471262,;							MODERATE	3031/3561	L1011I	STB5L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000273666		CCDS43137.1			1	
SALL3	0	LGGM	GRCh37	18	76757037	76757037	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	35	17	.	.	ENST00000537592.2:c.3618C>A	p.Asn1206Lys	p.N1206K	ENST00000537592	NM_171999.3	1206	aaC/aaA	0	1	1	UPI000013E5A7	0	NA	ENST00000537592		ENSG00000256463	10527		52	2.325		HGNC	p.N1001K		SALL3		SNV							ENST00000536229	protein_coding	getma.org/?cm=var&var=hg19,18,76757037,C,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46		N/K		A	medium	3618/3903		getma.org/?cm=msa&ty=f&p=SALL3_HUMAN&rb=1155&re=1298&var=N1206K	deleterious(0.04)				YES	SALL3,missense_variant,p.Asn1001Lys,ENST00000536229,;SALL3,missense_variant,p.Asn1134Lys,ENST00000575389,;SALL3,missense_variant,p.Asn1206Lys,ENST00000537592,NM_171999.3;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;							MODERATE	3618/3903	N1206K	SALL3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000441823		CCDS12013.1			1	
WBSCR16	0	LGGM	GRCh37	7	74486522	74486522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	52	18	.	.	ENST00000329959.4:c.386C>T	p.Thr129Met	p.T129M	ENST00000329959	NM_030798.4	129	aCg/aTg	0	1	1	UPI00000015C1	0	NA	ENST00000329959		ENSG00000174374	14948		70	1.95		HGNC	p.T129M	rs782713125	WBSCR16		SNV			1				ENST00000503250	protein_coding	getma.org/?cm=var&var=hg19,7,74486522,G,A&fts=all		Gene3D:2.130.10.30,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF11,Superfamily_domains:SSF50985		T/M		A	medium	442/2300	1.50E-05	getma.org/?cm=msa&ty=f&p=WBS16_HUMAN&rb=93&re=159&var=T129M	tolerated(0.21)	B2RXG5_HUMAN			YES	WBSCR16,missense_variant,p.Thr129Met,ENST00000503250,NM_148842.2;WBSCR16,missense_variant,p.Thr129Met,ENST00000329959,NM_030798.4;WBSCR16,missense_variant,p.Thr129Met,ENST00000543840,NM_001281441.1;WBSCR16,missense_variant,p.Thr56Met,ENST00000455375,;WBSCR16,non_coding_transcript_exon_variant,,ENST00000478352,;							MODERATE	386/1395	T129M	WBS16_HUMAN			Transcript		benign(0.097)	.	ENSP00000333799	8.24E-06	CCDS5577.1			1	
RINT1	0	LGGM	GRCh37	7	105207725	105207725	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	44	18	.	.	ENST00000257700.2:c.2346T>C	p.Asn782=	p.N782=	ENST00000257700	NM_021930.4	782	aaT/aaC	0	1	1	UPI000020F898	0		ENST00000257700		ENSG00000135249	21876		62			HGNC	p.N782N		RINT1		SNV							ENST00000257700	protein_coding			Pfam_domain:PF04437,PROSITE_profiles:PS51386,hmmpanther:PTHR13520,hmmpanther:PTHR13520:SF0		N		C		2577/2976							YES	RINT1,synonymous_variant,p.=,ENST00000257700,NM_021930.4;EFCAB10,3_prime_UTR_variant,,ENST00000486180,;EFCAB10,3_prime_UTR_variant,,ENST00000460135,;EFCAB10,intron_variant,,ENST00000485614,;EFCAB10,intron_variant,,ENST00000480514,;RP11-251G23.5,upstream_gene_variant,,ENST00000609827,;EFCAB10,non_coding_transcript_exon_variant,,ENST00000490493,;EFCAB10,intron_variant,,ENST00000469099,;RINT1,3_prime_UTR_variant,,ENST00000497979,;							LOW	2346/2379		RINT1_HUMAN			Transcript			.	ENSP00000257700		CCDS34726.1			1	
EIF4G3	0	LGGM	GRCh37	1	21155693	21155693	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	48	18	.	.	ENST00000602326.1:c.3984A>G	p.Glu1328=	p.E1328=	ENST00000602326	NM_001198802.1	1328	gaA/gaG	0	1		UPI0000070825	0		ENST00000264211		ENSG00000075151	3298		66			HGNC	p.E1042E		EIF4G3		SNV							ENST00000374935	protein_coding			Gene3D:1.25.40.180,Pfam_domain:PF02847,PROSITE_profiles:PS51366,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23,SMART_domains:SM00544,Superfamily_domains:SSF48371		E		C		4161/5802				F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,synonymous_variant,p.=,ENST00000602326,NM_001198802.1;EIF4G3,synonymous_variant,p.=,ENST00000400422,NM_001198801.1;EIF4G3,synonymous_variant,p.=,ENST00000264211,NM_003760.4;EIF4G3,synonymous_variant,p.=,ENST00000374937,;EIF4G3,synonymous_variant,p.=,ENST00000374935,;EIF4G3,synonymous_variant,p.=,ENST00000536266,;EIF4G3,synonymous_variant,p.=,ENST00000537738,;EIF4G3,non_coding_transcript_exon_variant,,ENST00000435383,;							LOW	3966/4758		IF4G3_HUMAN			Transcript			.	ENSP00000264211		CCDS214.1			1	
CC2D1A	0	LGGM	GRCh37	19	14038734	14038734	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	49	18	.	.	ENST00000318003.7:c.2345G>T	p.Gly782Val	p.G782V	ENST00000318003	NM_017721.4	782	gGg/gTg	0	1	1	UPI0000203524	0	NA	ENST00000318003		ENSG00000132024	30237		67	2.47		HGNC	p.G782V		CC2D1A		SNV			1				ENST00000589606	protein_coding	getma.org/?cm=var&var=hg19,19,14038734,G,T&fts=all		hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7,Gene3D:2.60.40.150		G/V		T	medium	2586/3581		getma.org/?cm=msa&ty=f&p=C2D1A_HUMAN&rb=756&re=951&var=G782V	deleterious(0.01)				YES	CC2D1A,missense_variant,p.Gly782Val,ENST00000318003,NM_017721.4;CC2D1A,missense_variant,p.Gly782Val,ENST00000589606,;CC2D1A,missense_variant,p.Gly237Val,ENST00000587508,;PODNL1,downstream_gene_variant,,ENST00000538517,NM_001146255.1;PODNL1,downstream_gene_variant,,ENST00000339560,NM_024825.3;PODNL1,downstream_gene_variant,,ENST00000254320,;PODNL1,downstream_gene_variant,,ENST00000538371,NM_001146254.1;PODNL1,downstream_gene_variant,,ENST00000587954,;PODNL1,downstream_gene_variant,,ENST00000588872,;CC2D1A,3_prime_UTR_variant,,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589138,;CC2D1A,downstream_gene_variant,,ENST00000589224,;CC2D1A,downstream_gene_variant,,ENST00000588932,;CC2D1A,downstream_gene_variant,,ENST00000589679,;							MODERATE	2345/2856	G782V	C2D1A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000313601		CCDS42512.1			1	
MYH3	0	LGGM	GRCh37	17	10547729	10547729	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	26	18	.	.	ENST00000583535.1:c.1349C>T	p.Thr450Met	p.T450M	ENST00000583535	NM_002470.3	450	aCg/aTg	0	1	1	UPI000013C892	0	getma.org/pdb.php?prot=MYH3_HUMAN&from=88&to=767&var=T450M	ENST00000583535		ENSG00000109063	7573		44	3.455		HGNC	p.T450M		MYH3		SNV			1				ENST00000583535	protein_coding	getma.org/?cm=var&var=hg19,17,10547729,G,A&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		T/M		A	medium	1437/6037		getma.org/?cm=msa&ty=f&p=MYH3_HUMAN&rb=88&re=767&var=T450M	deleterious(0)				YES	MYH3,missense_variant,p.Thr450Met,ENST00000583535,NM_002470.3;MYH3,missense_variant,p.Thr450Met,ENST00000226209,;MYH3,downstream_gene_variant,,ENST00000579489,;							MODERATE	1349/5823	T450M	MYH3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000464317		CCDS11157.1			1	
FANCD2	0	LGGM	GRCh37	3	10089643	10089643	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	80	18	.	.	ENST00000287647.3:c.1321A>G	p.Ser441Gly	p.S441G	ENST00000287647	NM_033084.3	441	Agt/Ggt	0	1		UPI000006CD51	0	getma.org/pdb.php?prot=FACD2_HUMAN&from=1&to=1470&var=S441G	ENST00000383807		ENSG00000144554	3585		98	1.295		HGNC	p.S441G		FANCD2		SNV			1				ENST00000419585	protein_coding	getma.org/?cm=var&var=hg19,3,10089643,A,G&fts=all		hmmpanther:PTHR32086,Pfam_domain:PF14631		S/G		G	low	1399/5102		getma.org/?cm=msa&ty=f&p=FACD2_HUMAN&rb=1&re=1470&var=S441G	tolerated(0.08)					FANCD2,missense_variant,p.Ser441Gly,ENST00000287647,NM_033084.3;FANCD2,missense_variant,p.Ser441Gly,ENST00000419585,;FANCD2,missense_variant,p.Ser441Gly,ENST00000383807,NM_001018115.1;FANCD2,missense_variant,p.Ser441Gly,ENST00000383806,;FANCD2,non_coding_transcript_exon_variant,,ENST00000483276,;FANCD2,non_coding_transcript_exon_variant,,ENST00000464934,;FANCD2,upstream_gene_variant,,ENST00000421731,;							MODERATE	1321/4356	S441G	FACD2_HUMAN			Transcript		benign(0.02)	.	ENSP00000373318		CCDS33696.1			1	
ITGA2	0	LGGM	GRCh37	5	52365943	52365943	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	13	18	.	.	ENST00000296585.5:c.2088T>C	p.Ile696=	p.I696=	ENST00000296585	NM_002203.3	696	atT/atC	0	1	1	UPI0000169C36	0		ENST00000296585		ENSG00000164171	6137		31			HGNC	p.I696I		ITGA2		SNV			1				ENST00000509814	protein_coding			Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23		I		C		2231/7869				Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN			YES	ITGA2,synonymous_variant,p.=,ENST00000296585,NM_002203.3;ITGA2,synonymous_variant,p.=,ENST00000510722,;ITGA2,synonymous_variant,p.=,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000509960,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;							LOW	2088/3546		ITA2_HUMAN			Transcript			.	ENSP00000296585		CCDS3957.1			1	
RAD54B	0	LGGM	GRCh37	8	95390806	95390806	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	21	18	.	.	ENST00000336148.5:c.2304C>T	p.Leu768=	p.L768=	ENST00000336148	NM_012415.3	768	ctC/ctT	0	1	1	UPI0000070088	0		ENST00000336148		ENSG00000197275	17228		39			HGNC	p.L768L		RAD54B		SNV							ENST00000336148	protein_coding			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568,PROSITE_profiles:PS51194		L		A		2429/3068				E5RHN9_HUMAN			YES	RAD54B,synonymous_variant,p.=,ENST00000336148,NM_012415.3;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,downstream_gene_variant,,ENST00000518358,;							LOW	2304/2733		RA54B_HUMAN			Transcript			.	ENSP00000336606		CCDS6262.1			1	
ARHGAP35	0	LGGM	GRCh37	19	47424150	47424150	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	82	19	.	.	ENST00000404338.3:c.2218A>G	p.Ile740Val	p.I740V	ENST00000404338	NM_004491.4	740	Att/Gtt	0	1	1	UPI0000163F71	0	NA	ENST00000404338		ENSG00000160007	4591		101	-0.895		HGNC	p.I740V		ARHGAP35		SNV							ENST00000404338	protein_coding	getma.org/?cm=var&var=hg19,19,47424150,A,G&fts=all		hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26		I/V		G	neutral	2218/8889		getma.org/?cm=msa&ty=f&p=RHG35_HUMAN&rb=601&re=800&var=I740V	tolerated(0.64)				YES	ARHGAP35,missense_variant,p.Ile740Val,ENST00000404338,NM_004491.4;							MODERATE	2218/4500	I740V	RHG35_HUMAN			Transcript		benign(0.003)	.	ENSP00000385720		CCDS46127.1			1	
PEAR1	0	LGGM	GRCh37	1	156876526	156876526	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	33	21	.	.	ENST00000338302.3:c.498T>C	p.Pro166=	p.P166=	ENST00000338302		166	ccT/ccC	0	1		UPI000045889A	0		ENST00000292357		ENSG00000187800	33631		54			HGNC	p.P166P	rs374122428	PEAR1		SNV							ENST00000338302	protein_coding			Gene3D:2gy5A03,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF9,SMART_domains:SM00180,SMART_domains:SM00181		P		C		614/4866				A6PVP2_HUMAN				PEAR1,synonymous_variant,p.=,ENST00000338302,;PEAR1,synonymous_variant,p.=,ENST00000292357,NM_001080471.1;PEAR1,synonymous_variant,p.=,ENST00000455314,;PEAR1,non_coding_transcript_exon_variant,,ENST00000469390,;PEAR1,downstream_gene_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;							LOW	498/3114		PEAR1_HUMAN			Transcript			.	ENSP00000292357		CCDS30892.1			1	
NARG2	0	LGGM	GRCh37	15	60747304	60747304	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	53	21	.	.	ENST00000261520.4:c.841G>A	p.Ala281Thr	p.A281T	ENST00000261520	NM_024611.5	281	Gct/Act	0	1	1	UPI00001A828C	0	NA	ENST00000261520		ENSG00000128915	29885		74	1.5		HGNC	p.A281T	rs763757407	NARG2		SNV							ENST00000261520	protein_coding	getma.org/?cm=var&var=hg19,15,60747304,C,T&fts=all		hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633		A/T		T	low	1076/7209		getma.org/?cm=msa&ty=f&p=NARG2_HUMAN&rb=201&re=400&var=A281T	tolerated(0.06)	H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN			YES	NARG2,missense_variant,p.Ala281Thr,ENST00000261520,NM_024611.5;NARG2,missense_variant,p.Ala144Thr,ENST00000439632,NM_001018089.2;NARG2,missense_variant,p.Ala281Thr,ENST00000561114,NM_001276385.1;NARG2,missense_variant,p.Ala281Thr,ENST00000558512,;NARG2,downstream_gene_variant,,ENST00000561087,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,non_coding_transcript_exon_variant,,ENST00000558451,;NARG2,upstream_gene_variant,,ENST00000561328,;NARG2,downstream_gene_variant,,ENST00000560895,;NARG2,downstream_gene_variant,,ENST00000561446,;NARG2,downstream_gene_variant,,ENST00000560668,;							MODERATE	841/2949	A281T	NARG2_HUMAN			Transcript		benign(0.309)	.	ENSP00000261520		CCDS10176.1			1	
ZNF208	0	LGGM	GRCh37	19	22155845	22155845	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	70	21	.	.	ENST00000397126.4:c.1991C>A	p.Pro664His	p.P664H	ENST00000397126	NM_007153.3	664	cCc/cAc	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		91			HGNC	p.P664H		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		P/H		T		2140/3992			deleterious(0.02)				YES	ZNF208,missense_variant,p.Pro664His,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	1991/3843		ZN208_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000380315		CCDS54240.1			1	
LRRCC1	0	LGGM	GRCh37	8	86021992	86021992	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	19	21	.	.	ENST00000360375.3:c.267G>A	p.Leu89=	p.L89=	ENST00000360375	NM_033402.4	89	ctG/ctA	0	1	1	UPI000021002F	0		ENST00000360375		ENSG00000133739	29373		40			HGNC	p.L69L		LRRCC1		SNV							ENST00000414626	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF12799,PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF31,Low_complexity_(Seg):seg,SMART_domains:SM00365,Superfamily_domains:SSF52058		L		A		416/3813							YES	LRRCC1,synonymous_variant,p.=,ENST00000414626,;LRRCC1,synonymous_variant,p.=,ENST00000360375,NM_033402.4;LRRCC1,intron_variant,,ENST00000522770,;LRRCC1,intron_variant,,ENST00000517875,;LRRCC1,intron_variant,,ENST00000522567,;LRRCC1,intron_variant,,ENST00000523669,;							LOW	267/3099		LRCC1_HUMAN			Transcript			.	ENSP00000353538		CCDS43750.1			1	
CXCL2	0	LGGM	GRCh37	4	74964620	74964620	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	39	25	.	.	ENST00000508487.2:c.120A>G	p.Glu40=	p.E40=	ENST00000508487	NM_002089.3	40	gaA/gaG	0	1	1	UPI0000047AA8	0		ENST00000508487		ENSG00000081041	4603		64			HGNC	p.E40E		CXCL2		SNV							ENST00000508487	protein_coding			Prints_domain:PR00436,Superfamily_domains:SSF54117,SMART_domains:SM00199,Gene3D:2.40.50.40,hmmpanther:PTHR10179:SF39,hmmpanther:PTHR10179		E		C		293/1218				Q6LD33_HUMAN			YES	CXCL2,synonymous_variant,p.=,ENST00000508487,NM_002089.3;CXCL2,non_coding_transcript_exon_variant,,ENST00000296031,;CXCL2,non_coding_transcript_exon_variant,,ENST00000510048,;							LOW	120/324		CXCL2_HUMAN			Transcript			.	ENSP00000427279		CCDS34008.1			1	
TSC2	0	LGGM	GRCh37	16	2114386	2114386	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	17	27	.	.	ENST00000219476.3:c.1557C>A	p.Cys519Ter	p.C519*	ENST00000219476	NM_000548.3	519	tgC/tgA	0	1	1	UPI000013C781	0	NA	ENST00000219476		ENSG00000103197	12363		44	0		HGNC	p.C519X		TSC2		SNV			1				ENST00000350773	protein_coding	getma.org/?cm=var&var=hg19,16,2114386,C,A&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Superfamily_domains:SSF48371		C/*		A	NA	2187/6156		NA					YES	TSC2,stop_gained,p.Cys519Ter,ENST00000219476,NM_000548.3;TSC2,stop_gained,p.Cys519Ter,ENST00000350773,NM_001114382.1;TSC2,stop_gained,p.Cys519Ter,ENST00000353929,;TSC2,stop_gained,p.Cys530Ter,ENST00000568454,;TSC2,stop_gained,p.Cys519Ter,ENST00000401874,NM_001077183.1;TSC2,stop_gained,p.Cys482Ter,ENST00000439673,;TSC2,stop_gained,p.Cys470Ter,ENST00000382538,;TSC2,downstream_gene_variant,,ENST00000467949,;TSC2,upstream_gene_variant,,ENST00000562474,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,3_prime_UTR_variant,,ENST00000568566,;TSC2,non_coding_transcript_exon_variant,,ENST00000490108,;TSC2,non_coding_transcript_exon_variant,,ENST00000568238,;TSC2,downstream_gene_variant,,ENST00000463601,;TSC2,upstream_gene_variant,,ENST00000488675,;							HIGH	1557/5424	C519*	TSC2_HUMAN			Transcript			.	ENSP00000219476		CCDS10458.1			1	
ATR	0	LGGM	GRCh37	3	142274921	142274921	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	42	28	.	.	ENST00000350721.4:c.2139A>G	p.Gln713=	p.Q713=	ENST00000350721	NM_001184.3	713	caA/caG	0	1	1	UPI0000031A31	0		ENST00000350721		ENSG00000175054	882		70			HGNC	p.Q649Q		ATR		SNV			1				ENST00000383101	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		Q		C		2261/8249							YES	ATR,synonymous_variant,p.=,ENST00000350721,NM_001184.3;ATR,synonymous_variant,p.=,ENST00000383101,;ATR,downstream_gene_variant,,ENST00000515149,;ATR,non_coding_transcript_exon_variant,,ENST00000515863,;ATR,downstream_gene_variant,,ENST00000507148,;							LOW	2139/7935		ATR_HUMAN			Transcript			.	ENSP00000343741		CCDS3124.1			1	
SF3B1	0	LGGM	GRCh37	2	198285151	198285151	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	95	28	.	.	ENST00000335508.6:c.415+1G>A		p.X139_splice	ENST00000335508	NM_012433.2			0	1	1	UPI000013D493	0		ENST00000335508		ENSG00000115524	10768		123			HGNC	p.G139D		SF3B1		SNV			1				ENST00000487698	protein_coding							T		-/6526				Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,splice_donor_variant,,ENST00000335508,NM_012433.2;SF3B1,splice_donor_variant,,ENST00000414963,NM_001005526.1;SF3B1,splice_donor_variant,,ENST00000409915,;SF3B1,missense_variant,p.Gly139Asp,ENST00000487698,;SF3B1,3_prime_UTR_variant,,ENST00000414174,;SF3B1,upstream_gene_variant,,ENST00000470268,;SF3B1,upstream_gene_variant,,ENST00000482158,;							HIGH	415/3915		SF3B1_HUMAN			Transcript			.	ENSP00000335321		CCDS33356.1			1	
MYH2	0	LGGM	GRCh37	17	10446416	10446416	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	37	29	.	.	ENST00000245503.5:c.804A>G	p.Thr268=	p.T268=	ENST00000245503	NM_017534.5	268	acA/acG	0	1	1	UPI000012FB6C	0		ENST00000245503		ENSG00000125414	7572		66			HGNC	p.T268T		MYH2		SNV			1				ENST00000245503	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,SMART_domains:SM00242,Superfamily_domains:SSF52540		T		C		1189/6339				J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN			YES	MYH2,splice_region_variant,p.=,ENST00000245503,NM_017534.5;MYH2,splice_region_variant,p.=,ENST00000397183,NM_001100112.1;MYH2,splice_region_variant,p.=,ENST00000532183,;MYH2,downstream_gene_variant,,ENST00000420805,;MYH2,downstream_gene_variant,,ENST00000578017,;CTC-297N7.11,intron_variant,,ENST00000587182,;							LOW	804/5826		MYH2_HUMAN			Transcript			.	ENSP00000245503		CCDS11156.1			1	
SCN4A	0	LGGM	GRCh37	17	62018409	62018409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	21	30	.	.	ENST00000435607.1:c.5233C>T	p.Arg1745Cys	p.R1745C	ENST00000435607	NM_000334.4	1745	Cgc/Tgc	0	1	1	UPI0000201254	0	getma.org/pdb.php?prot=SCN4A_HUMAN&from=1727&to=1756&var=R1745C	ENST00000435607		ENSG00000007314	10591	8.64E-05	51	2.79		HGNC	p.R1745C	rs749841448,COSM4068668	SCN4A		SNV			1			0,1	ENST00000435607	protein_coding	getma.org/?cm=var&var=hg19,17,62018409,G,A&fts=all		PROSITE_profiles:PS50096,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193		R/C		A	medium	5310/7805		getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1727&re=1756&var=R1745C	deleterious(0.04)	Q9H3L9_HUMAN			YES	SCN4A,missense_variant,p.Arg1745Cys,ENST00000578147,;SCN4A,missense_variant,p.Arg1745Cys,ENST00000435607,NM_000334.4;					0,1		MODERATE	5233/5511	R1745C	SCN4A_HUMAN			Transcript		benign(0.176)	.	ENSP00000396320	8.26E-06	CCDS45761.1			1	
GAD2	0	LGGM	GRCh37	10	26581445	26581445	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	25	30	.	.	ENST00000376261.3:c.1438T>A	p.Tyr480Asn	p.Y480N	ENST00000376261	NM_001134366.1	480	Tat/Aat	0	1		UPI0000033835	0	getma.org/pdb.php?prot=DCE2_HUMAN&from=138&to=509&var=Y480N	ENST00000259271		ENSG00000136750	4093		55	3.255		HGNC	p.Y480N		GAD2		SNV							ENST00000259271	protein_coding	getma.org/?cm=var&var=hg19,10,26581445,T,A&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF77,Pfam_domain:PF00282,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		Y/N		A	medium	1583/2462		getma.org/?cm=msa&ty=f&p=DCE2_HUMAN&rb=138&re=509&var=Y480N	deleterious(0)	Q9UGI5_HUMAN,Q5VZ30_HUMAN				GAD2,missense_variant,p.Tyr480Asn,ENST00000376261,NM_001134366.1;GAD2,missense_variant,p.Tyr480Asn,ENST00000259271,NM_000818.2;							MODERATE	1438/1758	Y480N	DCE2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000259271		CCDS7149.1			1	
PSMD5	0	LGGM	GRCh37	9	123594158	123594158	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	47	31	.	.	ENST00000210313.3:c.384A>G	p.Lys128=	p.K128=	ENST00000210313	NM_005047.3	128	aaA/aaG	0	1	1	UPI0000132785	0		ENST00000210313		ENSG00000095261	9563		78			HGNC	p.K128K		PSMD5		SNV							ENST00000373904	protein_coding			hmmpanther:PTHR13554,Pfam_domain:PF10508,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		K		C		459/3443							YES	PSMD5,synonymous_variant,p.=,ENST00000210313,NM_005047.3,NM_001270427.1;PSMD5,synonymous_variant,p.=,ENST00000373904,;PSMD5-AS1,intron_variant,,ENST00000589026,;PSMD5,3_prime_UTR_variant,,ENST00000476949,;PSMD5,non_coding_transcript_exon_variant,,ENST00000471789,;PSMD5,upstream_gene_variant,,ENST00000373903,;PSMD5,upstream_gene_variant,,ENST00000496688,;							LOW	384/1515		PSMD5_HUMAN			Transcript			.	ENSP00000210313		CCDS6824.1			1	
MGAT5B	0	LGGM	GRCh37	17	74936904	74936904	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050420	H050420N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	23	31	.	.	ENST00000428789.2:c.1849G>A	p.Ala617Thr	p.A617T	ENST00000428789	NM_198955.1	617	Gcc/Acc	0	1		UPI00001BFAF5	0	NA	ENST00000569840		ENSG00000167889	24140		54	1.575		HGNC	p.A606T		MGAT5B		SNV							ENST00000301618	protein_coding	getma.org/?cm=var&var=hg19,17,74936904,G,A&fts=all		hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024		A/T		A	low	2396/4492		getma.org/?cm=msa&ty=f&p=MGT5B_HUMAN&rb=1&re=790&var=A608T	tolerated(0.09)	H3BR20_HUMAN				MGAT5B,missense_variant,p.Ala608Thr,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Ala606Thr,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Ala617Thr,ENST00000428789,NM_198955.1;MGAT5B,upstream_gene_variant,,ENST00000563153,;MGAT5B,3_prime_UTR_variant,,ENST00000565043,;							MODERATE	1822/2379	A608T	MGT5B_HUMAN			Transcript		benign(0.182)	.	ENSP00000456037		CCDS59299.1			1	
FAM90A1	0	LGGM	GRCh37	12	8376805	8376805	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	132	33	.	.	ENST00000538603.1:c.130T>A	p.Cys44Ser	p.C44S	ENST00000538603	NM_018088.3	44	Tgc/Agc	0	1		UPI000013EC10	0	NA	ENST00000307435		ENSG00000171847	25526		165	1.935		HGNC	p.C44S		FAM90A1		SNV							ENST00000307435	protein_coding	getma.org/?cm=var&var=hg19,12,8376805,A,T&fts=all		Pfam_domain:PF15288,hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF8		C/S		T	medium	515/2342		getma.org/?cm=msa&ty=f&p=F90A1_HUMAN&rb=1&re=463&var=C44S	deleterious(0.01)					FAM90A1,missense_variant,p.Cys44Ser,ENST00000538603,NM_018088.3;FAM90A1,missense_variant,p.Cys44Ser,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;ALG1L10P,upstream_gene_variant,,ENST00000437882,;							MODERATE	130/1395	C44S	F90A1_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000307798		CCDS31738.1			1	
RTF1	0	LGGM	GRCh37	15	41763431	41763431	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	66	35	.	.	ENST00000389629.4:c.1087C>T	p.Arg363Ter	p.R363*	ENST00000389629	NM_015138.4	363	Cga/Tga	0	1	1	UPI0000E23C14	0	NA	ENST00000389629		ENSG00000137815	28996		101	0		HGNC	p.R363X	COSM961415,COSM1587824	RTF1		SNV						1,1	ENST00000389629	protein_coding	getma.org/?cm=var&var=hg19,15,41763431,C,T&fts=all		PROSITE_profiles:PS51360,hmmpanther:PTHR13115,hmmpanther:PTHR13115:SF8,Pfam_domain:PF03126,SMART_domains:SM00719,Superfamily_domains:0053761		R/*		T	NA	1099/5021		NA		I7GPQ7_HUMAN			YES	RTF1,stop_gained,p.Arg363Ter,ENST00000389629,NM_015138.4;RTF1,upstream_gene_variant,,ENST00000560447,;RTF1,upstream_gene_variant,,ENST00000473214,;					1,1		HIGH	1087/2133	R363*	RTF1_HUMAN			Transcript			.	ENSP00000374280		CCDS32200.2			1	
DYNC1I2	0	LGGM	GRCh37	2	172583329	172583329	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	84	35	.	.	ENST00000397119.3:c.899A>G	p.Asn300Ser	p.N300S	ENST00000397119	NM_001378.2	300	aAc/aGc	0	1	1	UPI0000129A05	0	NA	ENST00000397119		ENSG00000077380	2964		119	1.52		HGNC	p.N274S		DYNC1I2		SNV							ENST00000435234	protein_coding	getma.org/?cm=var&var=hg19,2,172583329,A,G&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF36		N/S		G	low	1066/2604		getma.org/?cm=msa&ty=f&p=DC1I2_HUMAN&rb=165&re=364&var=N300S	tolerated(0.08)	Q53SA6_HUMAN,E7ERR6_HUMAN			YES	DYNC1I2,missense_variant,p.Asn300Ser,ENST00000534253,;DYNC1I2,missense_variant,p.Asn300Ser,ENST00000397119,NM_001378.2;DYNC1I2,missense_variant,p.Asn274Ser,ENST00000340296,NM_001271788.1,NM_001271790.1,NM_001271786.1;DYNC1I2,missense_variant,p.Asn294Ser,ENST00000263811,;DYNC1I2,missense_variant,p.Asn300Ser,ENST00000409773,NM_001271785.1;DYNC1I2,missense_variant,p.Asn274Ser,ENST00000409197,NM_001271787.1,NM_001271789.1;DYNC1I2,missense_variant,p.Asn300Ser,ENST00000409453,;DYNC1I2,missense_variant,p.Asn274Ser,ENST00000508530,;DYNC1I2,missense_variant,p.Asn292Ser,ENST00000358002,;DYNC1I2,missense_variant,p.Asn294Ser,ENST00000409317,;DYNC1I2,missense_variant,p.Asn292Ser,ENST00000410079,;DYNC1I2,missense_variant,p.Asn274Ser,ENST00000435234,;DYNC1I2,downstream_gene_variant,,ENST00000452242,;DYNC1I2,downstream_gene_variant,,ENST00000438879,;DYNC1I2,downstream_gene_variant,,ENST00000456808,;DYNC1I2,downstream_gene_variant,,ENST00000425485,;DYNC1I2,downstream_gene_variant,,ENST00000423910,;DYNC1I2,downstream_gene_variant,,ENST00000422646,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000482454,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000479806,;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000470286,;DYNC1I2,downstream_gene_variant,,ENST00000445378,;							MODERATE	899/1917	N300S	DC1I2_HUMAN			Transcript		benign(0.002)	.	ENSP00000380308		CCDS46450.1			1	
PCYOX1L	0	LGGM	GRCh37	5	148747623	148747623	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	43	35	.	.	ENST00000274569.4:c.891C>A	p.Ile297=	p.I297=	ENST00000274569	NM_024028.3	297	atC/atA	0	1	1	UPI0000049E12	0		ENST00000274569		ENSG00000145882	28477		78			HGNC	p.I297I		PCYOX1L		SNV							ENST00000274569	protein_coding			Gene3D:3.50.50.60,Pfam_domain:PF07156,PIRSF_domain:PIRSF036292,hmmpanther:PTHR15944,hmmpanther:PTHR15944:SF2,Superfamily_domains:SSF51905		I		A		953/2546				E7EVZ5_HUMAN			YES	PCYOX1L,synonymous_variant,p.=,ENST00000514349,;PCYOX1L,synonymous_variant,p.=,ENST00000274569,NM_024028.3;RP11-394O4.3,upstream_gene_variant,,ENST00000521756,;IL17B,downstream_gene_variant,,ENST00000518814,;PCYOX1L,3_prime_UTR_variant,,ENST00000511945,;PCYOX1L,3_prime_UTR_variant,,ENST00000505669,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000507621,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000503240,;PCYOX1L,downstream_gene_variant,,ENST00000510990,;							LOW	891/1485		PCYXL_HUMAN			Transcript			.	ENSP00000274569		CCDS4296.1			1	
GJA1	0	LGGM	GRCh37	6	121768989	121768989	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	89	38	.	.	ENST00000282561.3:c.996A>G	p.Ala332=	p.A332=	ENST00000282561	NM_000165.3	332	gcA/gcG	0	1	1	UPI000013DCEC	0		ENST00000282561		ENSG00000152661	4274	0.000173	127			HGNC	p.A332A	rs747847500	GJA1		SNV			1				ENST00000282561	protein_coding			Superfamily_domains:0049114,Prints_domain:PR01132		A		G		1153/3037				B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN			YES	GJA1,synonymous_variant,p.=,ENST00000282561,NM_000165.3;							LOW	996/1149		CXA1_HUMAN			Transcript			.	ENSP00000282561	1.65E-05	CCDS5123.1			1	
STK36	0	LGGM	GRCh37	2	219563400	219563400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	78	39	.	.	ENST00000295709.3:c.3133C>T	p.Pro1045Ser	p.P1045S	ENST00000295709	NM_015690.4	1045	Ccc/Tcc	0	1	1	UPI00000342FC	0	NA	ENST00000295709		ENSG00000163482	17209		117	0.205		HGNC	p.P1024S		STK36		SNV							ENST00000392105	protein_coding	getma.org/?cm=var&var=hg19,2,219563400,C,T&fts=all		hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983		P/S		T	neutral	3412/4933		getma.org/?cm=msa&ty=f&p=STK36_HUMAN&rb=381&re=1106&var=P1045S	tolerated(0.67)	C9JDA4_HUMAN,C9J1B8_HUMAN			YES	STK36,missense_variant,p.Pro1045Ser,ENST00000295709,NM_015690.4;STK36,missense_variant,p.Pro1024Ser,ENST00000392106,;STK36,missense_variant,p.Pro1024Ser,ENST00000392105,NM_001243313.1;STK36,missense_variant,p.Pro1045Ser,ENST00000440309,;STK36,3_prime_UTR_variant,,ENST00000419433,;STK36,non_coding_transcript_exon_variant,,ENST00000462031,;STK36,downstream_gene_variant,,ENST00000486644,;STK36,downstream_gene_variant,,ENST00000492486,;STK36,downstream_gene_variant,,ENST00000473681,;							MODERATE	3133/3948	P1045S	STK36_HUMAN			Transcript		benign(0.004)	.	ENSP00000295709		CCDS2421.1			1	
MUC17	0	LGGM	GRCh37	7	100678096	100678096	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	260	39	.	.	ENST00000306151.4:c.3399C>T	p.Thr1133=	p.T1133=	ENST00000306151	NM_001040105.1	1133	acC/acT	0	1	1	UPI0000D5BB56	0		ENST00000306151		ENSG00000169876	16800		299			HGNC	p.T1133T		MUC17		SNV							ENST00000379439	protein_coding			Low_complexity_(Seg):seg		T		T		3463/14241				A1A4F7_HUMAN			YES	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;							LOW	3399/13482		MUC17_HUMAN			Transcript			.	ENSP00000302716		CCDS34711.1			1	
ALG10	0	LGGM	GRCh37	12	34179305	34179305	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050420	H050420N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	86	44	.	.	ENST00000266483.2:c.877T>C	p.Tyr293His	p.Y293H	ENST00000266483	NM_032834.3	293	Tac/Cac	0	1	1	UPI000004E870	0	NA	ENST00000266483		ENSG00000139133	23162		130	3.58		HGNC	p.Y293H		ALG10		SNV							ENST00000266483	protein_coding	getma.org/?cm=var&var=hg19,12,34179305,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12989,hmmpanther:PTHR12989:SF11,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810		Y/H		C	high	1196/2393		getma.org/?cm=msa&ty=f&p=AG10A_HUMAN&rb=28&re=427&var=Y293H	deleterious(0)				YES	ALG10,missense_variant,p.Tyr293His,ENST00000266483,NM_032834.3;ALG10,intron_variant,,ENST00000538927,;AC046130.1,downstream_gene_variant,,ENST00000401300,;RP11-847H18.2,intron_variant,,ENST00000501954,;ALG10,3_prime_UTR_variant,,ENST00000541875,;ALG10,downstream_gene_variant,,ENST00000541178,;							MODERATE	877/1422	Y293H	AG10A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266483		CCDS41769.1			1	
SSX6	0	LGGM	GRCh37	X	47979015	47979015	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	by Submitter	H050420	H050420N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	31	55	.	.	ENST00000319275.3:n.638A>G		*213*	ENST00000319275				0	1			0		ENST00000509958		ENSG00000171483	19652		86			HGNC	p.X55X		SSX6		SNV							ENST00000509958	processed_transcript							G		164/336								SSX6,non_coding_transcript_exon_variant,,ENST00000509958,;SSX6,non_coding_transcript_exon_variant,,ENST00000319275,;SSX6,downstream_gene_variant,,ENST00000376932,;							MODIFIER						Transcript			.						1	
APBB1IP	0	LGGM	GRCh37	10	26789880	26789880	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	56	65	.	.	ENST00000376236.4:c.293C>A	p.Ser98Tyr	p.S98Y	ENST00000376236	NM_019043.3	98	tCt/tAt	0	1	1	UPI00001AF165	0	NA	ENST00000376236		ENSG00000077420	17379		121	1.845		HGNC	p.S98Y		APBB1IP		SNV							ENST00000490118	protein_coding	getma.org/?cm=var&var=hg19,10,26789880,C,A&fts=all		hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14		S/Y		A	low	748/2771		getma.org/?cm=msa&ty=f&p=AB1IP_HUMAN&rb=91&re=149&var=S98Y	tolerated(0.16)				YES	APBB1IP,missense_variant,p.Ser98Tyr,ENST00000376236,NM_019043.3;APBB1IP,missense_variant,p.Ser98Tyr,ENST00000356785,;							MODERATE	293/2001	S98Y	AB1IP_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000365411		CCDS31167.1			1	
ZFPM2	0	LGGM	GRCh37	8	106431494	106431494	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050420	H050420N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050420N.bam, H050420T.bam	Illumina HiSeq	82	82	.	.	ENST00000407775.2:c.163C>A	p.Leu55Met	p.L55M	ENST00000407775	NM_012082.3	55	Ctg/Atg	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		164	0.895		HGNC	p.L55M	rs746648477	ZFPM2		SNV			1				ENST00000407775	protein_coding	getma.org/?cm=var&var=hg19,8,106431494,C,A&fts=all		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5		L/M		A	low	413/4700	1.50E-05	getma.org/?cm=msa&ty=f&p=FOG2_HUMAN&rb=1&re=200&var=L55M	tolerated(0.26)	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,missense_variant,p.Leu55Met,ENST00000407775,NM_012082.3;ZFPM2,5_prime_UTR_variant,,ENST00000520492,;ZFPM2,5_prime_UTR_variant,,ENST00000520027,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000511341,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000524235,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522160,;RP11-127H5.1,downstream_gene_variant,,ENST00000518180,;							MODERATE	163/3456	L55M	FOG2_HUMAN			Transcript		benign(0.147)	.	ENSP00000384179	8.28E-06	CCDS47908.1			1	
MUC6	0	LGGM	GRCh37	11	1033042	1033042	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	14	2	.	.	ENST00000421673.2:c.86T>C	p.Leu29Pro	p.L29P	ENST00000421673	NM_005961.2	29	cTc/cCc	0	1	1	UPI0000251DBE	0	NA	ENST00000421673		ENSG00000184956	7517		16	0		HGNC	p.L53P		MUC6		SNV							ENST00000525923	protein_coding	getma.org/?cm=var&var=hg19,11,1033042,A,G&fts=all				L/P		G	neutral	137/8006		getma.org/?cm=msa&ty=f&p=MUC6_HUMAN&rb=1&re=44&var=L29P		Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN			YES	MUC6,missense_variant,p.Leu29Pro,ENST00000421673,NM_005961.2;MUC6,missense_variant,p.Leu53Pro,ENST00000525923,;							MODERATE	86/7320	L29P	MUC6_HUMAN			Transcript		unknown(0)	.	ENSP00000406861		CCDS44513.1			1	
ZNF546	0	LGGM	GRCh37	19	40519582	40519582	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	8	2	.	.	ENST00000347077.4:c.405C>A	p.Tyr135Ter	p.Y135*	ENST00000347077	NM_178544.3	135	taC/taA	0	1	1	UPI00001984E3	0	NA	ENST00000347077		ENSG00000187187	28671		10	0		HGNC	p.Y97X		ZNF546		SNV							ENST00000599504	protein_coding	getma.org/?cm=var&var=hg19,19,40519582,C,A&fts=all		hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377		Y/*		A	NA	621/4553		NA		M0R292_HUMAN,M0QXR6_HUMAN			YES	ZNF546,stop_gained,p.Tyr135Ter,ENST00000347077,NM_178544.3;ZNF546,stop_gained,p.Tyr109Ter,ENST00000600094,;ZNF546,stop_gained,p.Tyr97Ter,ENST00000599504,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000601138,;							HIGH	405/2511	Y135*	ZN546_HUMAN			Transcript			.	ENSP00000339823		CCDS12548.1			1	
POU4F2	0	LGGM	GRCh37	4	147561448	147561448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	10	2	.	.	ENST00000281321.3:c.718G>T	p.Gly240Trp	p.G240W	ENST00000281321	NM_004575.2	240	Ggg/Tgg	0	1	1	UPI000013DC6C	0	NA	ENST00000281321		ENSG00000151615	9219		12	1.15		HGNC	p.G240W		POU4F2		SNV							ENST00000281321	protein_coding	getma.org/?cm=var&var=hg19,4,147561448,G,T&fts=all		hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636		G/W		T	low	966/3144		getma.org/?cm=msa&ty=f&p=PO4F2_HUMAN&rb=79&re=249&var=G240W	deleterious_low_confidence(0)				YES	POU4F2,missense_variant,p.Gly240Trp,ENST00000281321,NM_004575.2;AC093887.1,downstream_gene_variant,,ENST00000584185,;							MODERATE	718/1230	G240W	PO4F2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000281321		CCDS34074.1			1	
ERG	0	LGGM	GRCh37	21	39755521	39755521	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	12	2	.	.	ENST00000288319.7:c.1244T>C	p.Leu415Pro	p.L415P	ENST00000288319	NM_182918.3	415	cTc/cCc	0	1		UPI000018681C	0	NA	ENST00000398919		ENSG00000157554	3446		14	2.375		HGNC	p.L415P		ERG		SNV			1				ENST00000288319	protein_coding	getma.org/?cm=var&var=hg19,21,39755521,A,G&fts=all		Superfamily_domains:SSF46785,hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849		L/P		G	medium	1560/1868		getma.org/?cm=msa&ty=f&p=ERG_HUMAN&rb=401&re=486&var=L422P	deleterious(0)	Q16031_HUMAN,B4DVX5_HUMAN				ERG,missense_variant,p.Leu398Pro,ENST00000442448,NM_004449.4;ERG,missense_variant,p.Leu422Pro,ENST00000417133,NM_001136154.1,NM_001243432.1;ERG,missense_variant,p.Leu399Pro,ENST00000398910,;ERG,missense_variant,p.Leu415Pro,ENST00000288319,NM_182918.3;ERG,missense_variant,p.Leu398Pro,ENST00000398911,;ERG,missense_variant,p.Leu392Pro,ENST00000398907,;ERG,missense_variant,p.Leu391Pro,ENST00000398905,;ERG,missense_variant,p.Leu299Pro,ENST00000398897,NM_001243429.1;ERG,missense_variant,p.Leu422Pro,ENST00000398919,NM_001243428.1;ERG,missense_variant,p.Leu323Pro,ENST00000453032,NM_001136155.1;							MODERATE	1265/1461	L422P	ERG_HUMAN			Transcript		benign(0.15)	.	ENSP00000381891		CCDS46648.1			1	
GCN1L1	0	LGGM	GRCh37	12	120596402	120596402	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	4	2	.	.	ENST00000300648.6:c.2767G>T	p.Val923Leu	p.V923L	ENST00000300648	NM_006836.1	923	Gtg/Ttg	0	1	1	UPI00001FBC69	0	NA	ENST00000300648		ENSG00000089154	4199		6	1.975		HGNC	p.V923L		GCN1L1		SNV							ENST00000300648	protein_coding	getma.org/?cm=var&var=hg19,12,120596402,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		V/L		A	medium	2780/8675		getma.org/?cm=msa&ty=f&p=GCN1L_HUMAN&rb=908&re=1107&var=V923L		B4DM32_HUMAN			YES	GCN1L1,missense_variant,p.Val923Leu,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,;							MODERATE	2767/8016	V923L	GCN1L_HUMAN			Transcript		possibly_damaging(0.74)	.	ENSP00000300648		CCDS41847.1			1	
ARHGAP11A	0	LGGM	GRCh37	15	32926159	32926159	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	14	2	.	.	ENST00000361627.3:c.1261T>C	p.Phe421Leu	p.F421L	ENST00000361627	NM_014783.3	421	Ttt/Ctt	0	1	1	UPI0000071553	0	NA	ENST00000361627		ENSG00000198826	15783		16	2.36		HGNC	p.F232L		ARHGAP11A		SNV							ENST00000565905	protein_coding	getma.org/?cm=var&var=hg19,15,32926159,T,C&fts=all		hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670		F/L		C	medium	1983/5898		getma.org/?cm=msa&ty=f&p=RHGBA_HUMAN&rb=414&re=613&var=F421L	deleterious(0)	B4DZN9_HUMAN			YES	ARHGAP11A,missense_variant,p.Phe421Leu,ENST00000361627,NM_014783.3,NM_001286480.1,NM_001286479.1;ARHGAP11A,missense_variant,p.Phe232Leu,ENST00000565905,;ARHGAP11A,missense_variant,p.Phe232Leu,ENST00000543522,;ARHGAP11A,missense_variant,p.Phe421Leu,ENST00000567348,NM_199357.1;ARHGAP11A,missense_variant,p.Phe393Leu,ENST00000563864,;ARHGAP11A,missense_variant,p.Phe105Leu,ENST00000562481,;ARHGAP11A,non_coding_transcript_exon_variant,,ENST00000564918,;							MODERATE	1261/3072	F421L	RHGBA_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000355090		CCDS10028.1			1	
INSR	0	LGGM	GRCh37	19	7150539	7150539	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	6	2	.	.	ENST00000302850.5:c.2236A>G	p.Thr746Ala	p.T746A	ENST00000302850	NM_000208.2	746	Acc/Gcc	0	1	1	UPI000020324D	0	NA	ENST00000302850		ENSG00000171105	6091		8	1.04		HGNC	p.T746A		INSR		SNV			1				ENST00000302850	protein_coding	getma.org/?cm=var&var=hg19,19,7150539,T,C&fts=all		PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF140,SMART_domains:SM00060		T/A		C	low	2379/4721		getma.org/?cm=msa&ty=f&p=INSR_HUMAN&rb=674&re=854&var=T746A	tolerated(0.67)	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN			YES	INSR,missense_variant,p.Thr746Ala,ENST00000302850,NM_000208.2;INSR,intron_variant,,ENST00000341500,NM_001079817.1;INSR,downstream_gene_variant,,ENST00000598216,;							MODERATE	2236/4149	T746A	INSR_HUMAN			Transcript		benign(0.011)	.	ENSP00000303830		CCDS12176.1			1	
ZC3H3	0	LGGM	GRCh37	8	144550575	144550575	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	4	2	.	.	ENST00000262577.5:c.2082C>A	p.Pro694=	p.P694=	ENST00000262577	NM_015117.2	694	ccC/ccA	0	1	1	UPI0000160D96	0		ENST00000262577		ENSG00000014164	28972		6			HGNC	p.P694P		ZC3H3		SNV							ENST00000262577	protein_coding			Gene3D:1m9oA00,Pfam_domain:PF00642,PROSITE_profiles:PS50103,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF13,SMART_domains:SM00356,Superfamily_domains:SSF90229		P		T		2114/3280							YES	ZC3H3,synonymous_variant,p.=,ENST00000262577,NM_015117.2;							LOW	2082/2847		ZC3H3_HUMAN			Transcript			.	ENSP00000262577		CCDS6402.1			1	
NUAK1	0	LGGM	GRCh37	12	106500305	106500305	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	23	3	.	.	ENST00000261402.2:c.241-2A>T		p.X81_splice	ENST00000261402	NM_014840.2			0	1	1	UPI00000403BC	0		ENST00000261402		ENSG00000074590	14311		26			HGNC	-		NUAK1		SNV							ENST00000261402	protein_coding							A		-/6828				F8VZ96_HUMAN,F8VXF0_HUMAN,F8VSH4_HUMAN			YES	NUAK1,splice_acceptor_variant,,ENST00000261402,NM_014840.2;RP11-114F10.3,downstream_gene_variant,,ENST00000548901,;							HIGH	241/1986		NUAK1_HUMAN			Transcript			.	ENSP00000261402		CCDS31892.1			1	
KANK4	0	LGGM	GRCh37	1	62739095	62739095	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	23	3	.	.	ENST00000371153.4:c.1681G>T	p.Gly561Trp	p.G561W	ENST00000371153	NM_181712.4	561	Ggg/Tgg	0	1	1	UPI000022AE73	0	NA	ENST00000371153		ENSG00000132854	27263		26	2.095		HGNC	p.G561W		KANK4		SNV							ENST00000371153	protein_coding	getma.org/?cm=var&var=hg19,1,62739095,C,A&fts=all		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20		G/W		A	medium	2060/4665		getma.org/?cm=msa&ty=f&p=KANK4_HUMAN&rb=80&re=637&var=G561W	deleterious(0)	B1ALP6_HUMAN,B1ALP5_HUMAN			YES	KANK4,missense_variant,p.Gly561Trp,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;							MODERATE	1681/2988	G561W	KANK4_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000360195		CCDS620.1			1	
LASP1	0	LGGM	GRCh37	17	37046706	37046706	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	41	3	.	.	ENST00000318008.6:c.198G>T	p.Ala66=	p.A66=	ENST00000318008	NM_006148.3	66	gcG/gcT	0	1	1	UPI0000046841	0		ENST00000318008		ENSG00000002834	6513		44			HGNC	p.A66A		LASP1		SNV							ENST00000318008	protein_coding			PROSITE_profiles:PS51216,hmmpanther:PTHR11039,Gene3D:2.10.110.10,SMART_domains:SM00227		A		T		529/4109				C9J9W2_HUMAN			YES	LASP1,synonymous_variant,p.=,ENST00000318008,NM_006148.3,NM_001271608.1;LASP1,synonymous_variant,p.=,ENST00000435347,;LASP1,synonymous_variant,p.=,ENST00000419929,;LASP1,intron_variant,,ENST00000433206,;LASP1,synonymous_variant,p.=,ENST00000443937,;LASP1,non_coding_transcript_exon_variant,,ENST00000584106,;LASP1,non_coding_transcript_exon_variant,,ENST00000581485,;LASP1,intron_variant,,ENST00000585841,;							LOW	198/786		LASP1_HUMAN			Transcript			.	ENSP00000325240		CCDS11331.1			1	
SAMD13	0	LGGM	GRCh37	1	84810575	84810575	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	3	.	.	ENST00000505585.1:n.215C>A		*72*	ENST00000505585				0	1		UPI000045897A	0		ENST00000370671		ENSG00000203943	24582		47			HGNC	p.T19T		SAMD13		SNV							ENST00000370667	protein_coding							A		-/724								SAMD13,synonymous_variant,p.=,ENST00000370667,;SAMD13,intron_variant,,ENST00000370673,NM_001010971.2;SAMD13,intron_variant,,ENST00000370668,NM_001134664.1;SAMD13,intron_variant,,ENST00000370669,;SAMD13,intron_variant,,ENST00000394834,NM_001134663.1;SAMD13,intron_variant,,ENST00000370671,;SAMD13,intron_variant,,ENST00000370670,;SAMD13,intron_variant,,ENST00000454967,;RP11-376N17.4,non_coding_transcript_exon_variant,,ENST00000505585,;RP11-376N17.4,non_coding_transcript_exon_variant,,ENST00000506295,;RP11-376N17.4,non_coding_transcript_exon_variant,,ENST00000510918,;							MODIFIER	-/369		SAM13_HUMAN			Transcript			.	ENSP00000359705					1	
KLHL30	0	LGGM	GRCh37	2	239057689	239057689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	11	3	.	.	ENST00000409223.1:c.1381C>A	p.Leu461Met	p.L461M	ENST00000409223		461	Ctg/Atg	0	1	1	UPI00001D7DA5	0	getma.org/pdb.php?prot=KLH30_HUMAN&from=409&to=504&var=L461M	ENST00000409223		ENSG00000168427	24770		14	1.61		HGNC	p.L443M		KLHL30		SNV							ENST00000305959	protein_coding	getma.org/?cm=var&var=hg19,2,239057689,C,A&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF9		L/M		A	low	1488/3726		getma.org/?cm=msa&ty=f&p=KLH30_HUMAN&rb=409&re=504&var=L461M	deleterious(0.04)	J3KND5_HUMAN			YES	KLHL30,missense_variant,p.Leu461Met,ENST00000409223,;KLHL30,missense_variant,p.Leu443Met,ENST00000305959,NM_198582.3;							MODERATE	1381/1737	L461M	KLH30_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000386389		CCDS46555.2			1	
PI4K2B	0	LGGM	GRCh37	4	25270105	25270105	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	26	3	.	.	ENST00000264864.6:c.1119C>A	p.Pro373=	p.P373=	ENST00000264864	NM_018323.3	373	ccC/ccA	0	1	1	UPI000006DEFC	0		ENST00000264864		ENSG00000038210	18215		29			HGNC	p.P373P		PI4K2B		SNV							ENST00000264864	protein_coding			hmmpanther:PTHR12865,hmmpanther:PTHR12865:SF6,Pfam_domain:PF00454		P		A		1308/3540				G5E9Z4_HUMAN			YES	PI4K2B,synonymous_variant,p.=,ENST00000264864,NM_018323.3;PI4K2B,synonymous_variant,p.=,ENST00000512921,;							LOW	1119/1446		P4K2B_HUMAN			Transcript			.	ENSP00000264864		CCDS3433.1			1	
SREK1	0	LGGM	GRCh37	5	65470862	65470862	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	17	3	.	.	ENST00000334121.6:c.1573C>A	p.Pro525Thr	p.P525T	ENST00000334121	NM_001270492.1	525	Ccc/Acc	0	1		UPI000007375A	0	NA	ENST00000380918		ENSG00000153914	17882		20	0.695		HGNC	p.P525T		SREK1		SNV							ENST00000334121	protein_coding	getma.org/?cm=var&var=hg19,5,65470862,C,A&fts=all		hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF7,Low_complexity_(Seg):seg		P/T		A	neutral	1885/2433		getma.org/?cm=msa&ty=f&p=SREK1_HUMAN&rb=396&re=508&var=P409T	deleterious_low_confidence(0.01)	Q69YM5_HUMAN,E5RJ76_HUMAN				SREK1,missense_variant,p.Pro525Thr,ENST00000334121,NM_001270492.1,NM_001077199.2;SREK1,missense_variant,p.Pro409Thr,ENST00000380918,NM_139168.3;SREK1,non_coding_transcript_exon_variant,,ENST00000284041,;SREK1,3_prime_UTR_variant,,ENST00000520953,;SREK1,3_prime_UTR_variant,,ENST00000522912,;SREK1,non_coding_transcript_exon_variant,,ENST00000519259,;SREK1,non_coding_transcript_exon_variant,,ENST00000522214,;SREK1,downstream_gene_variant,,ENST00000524111,;SREK1,downstream_gene_variant,,ENST00000520580,;SREK1,downstream_gene_variant,,ENST00000523655,;SREK1,upstream_gene_variant,,ENST00000519205,;							MODERATE	1225/1527	P409T	SREK1_HUMAN			Transcript		unknown(0)	.	ENSP00000370305		CCDS3991.1			1	
TMEM63C	0	LGGM	GRCh37	14	77719666	77719666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	18	3	.	.	ENST00000298351.4:c.2167C>A	p.Gln723Lys	p.Q723K	ENST00000298351	NM_020431.2	723	Cag/Aag	0	1	1	UPI0000049C5C	0	NA	ENST00000298351		ENSG00000165548	23787		21	0		HGNC	p.Q723K		TMEM63C		SNV							ENST00000298351	protein_coding	getma.org/?cm=var&var=hg19,14,77719666,C,A&fts=all		hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018		Q/K		A	neutral	2311/5334		getma.org/?cm=msa&ty=f&p=TM63C_HUMAN&rb=683&re=806&var=Q723K	tolerated(0.46)	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN			YES	TMEM63C,missense_variant,p.Gln723Lys,ENST00000298351,NM_020431.2;TMEM63C,non_coding_transcript_exon_variant,,ENST00000557504,;							MODERATE	2167/2421	Q723K	TM63C_HUMAN			Transcript		benign(0.001)	.	ENSP00000298351		CCDS45141.1			1	
DUSP5	0	LGGM	GRCh37	10	112269935	112269935	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	3	.	.	ENST00000369583.3:c.906C>A	p.Pro302=	p.P302=	ENST00000369583	NM_004419.3	302	ccC/ccA	0	1	1	UPI000013D0FF	0		ENST00000369583		ENSG00000138166	3071		25			HGNC	p.P302P	COSM3721590,COSM3721591	DUSP5		SNV						1,1	ENST00000369583	protein_coding			Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF40,SMART_domains:SM00195,SMART_domains:SM00404,Superfamily_domains:SSF52799		P		A		1190/2557							YES	DUSP5,synonymous_variant,p.=,ENST00000369583,NM_004419.3;DUSP5,non_coding_transcript_exon_variant,,ENST00000468749,;					1,1		LOW	906/1155		DUS5_HUMAN			Transcript			.	ENSP00000358596		CCDS7566.1			1	
CDAN1	0	LGGM	GRCh37	15	43017836	43017836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	3	.	.	ENST00000356231.3:c.3301G>T	p.Ala1101Ser	p.A1101S	ENST00000356231	NM_138477.2	1101	Gca/Tca	0	1	1	UPI0000229BCB	0	NA	ENST00000356231		ENSG00000140326	1713		36	-0.345		HGNC	p.A1101S		CDAN1		SNV			1				ENST00000356231	protein_coding	getma.org/?cm=var&var=hg19,15,43017836,C,A&fts=all				A/S		A	neutral	3325/4637		getma.org/?cm=msa&ty=f&p=CDAN1_HUMAN&rb=259&re=1225&var=A1101S	tolerated(0.72)	H3BM60_HUMAN			YES	CDAN1,missense_variant,p.Ala1101Ser,ENST00000356231,NM_138477.2;STARD9,downstream_gene_variant,,ENST00000290607,NM_020759.2;CDAN1,3_prime_UTR_variant,,ENST00000562465,;STARD9,downstream_gene_variant,,ENST00000562619,;CDAN1,upstream_gene_variant,,ENST00000563604,;CDAN1,upstream_gene_variant,,ENST00000565930,;							MODERATE	3301/3684	A1101S	CDAN1_HUMAN			Transcript		benign(0.022)	.	ENSP00000348564		CCDS32209.1			1	
MAGEB18	0	LGGM	GRCh37	X	26157177	26157177	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	26	3	.	.	ENST00000325250.1:c.75G>T	p.Leu25=	p.L25=	ENST00000325250	NM_173699.3	25	ctG/ctT	0	1	1	UPI00001415E3	0		ENST00000325250		ENSG00000176774	28515		29			HGNC	p.L25L		MAGEB18		SNV							ENST00000325250	protein_coding			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF23,Pfam_domain:PF12440		L		T		262/1811							YES	MAGEB18,synonymous_variant,p.=,ENST00000325250,NM_173699.3;							LOW	75/1032		MAGBI_HUMAN			Transcript			.	ENSP00000314543		CCDS14216.1			1	
LPO	0	LGGM	GRCh37	17	56343635	56343635	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	3	.	.	ENST00000262290.4:c.1641C>A	p.Gly547=	p.G547=	ENST00000262290	NM_006151.2	547	ggC/ggA	0	1	1	UPI0000131631	0		ENST00000262290		ENSG00000167419	6678		40			HGNC	p.G464G		LPO		SNV							ENST00000582328	protein_coding			PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF53,hmmpanther:PTHR11475,Pfam_domain:PF03098,Gene3D:1.10.640.10,Superfamily_domains:SSF48113		G		A		1957/2979				J3QSD8_HUMAN,F5H386_HUMAN			YES	LPO,synonymous_variant,p.=,ENST00000262290,NM_006151.2;LPO,synonymous_variant,p.=,ENST00000421678,NM_001160102.1;LPO,synonymous_variant,p.=,ENST00000582328,;LPO,synonymous_variant,p.=,ENST00000543544,;MPO,downstream_gene_variant,,ENST00000340482,;MPO,downstream_gene_variant,,ENST00000225275,NM_000250.1;MPO,downstream_gene_variant,,ENST00000577220,;LPO,3_prime_UTR_variant,,ENST00000580890,;LPO,3_prime_UTR_variant,,ENST00000389576,;							LOW	1641/2139		PERL_HUMAN			Transcript			.	ENSP00000262290		CCDS32689.1			1	
XKR8	0	LGGM	GRCh37	1	28293617	28293617	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	34	3	.	.	ENST00000373884.5:c.1094G>T	p.Gly365Val	p.G365V	ENST00000373884	NM_018053.2	365	gGg/gTg	0	1	1	UPI000006F5DC	0	NA	ENST00000373884		ENSG00000158156	25508		37	1.5		HGNC	p.G365V		XKR8		SNV							ENST00000373884	protein_coding	getma.org/?cm=var&var=hg19,1,28293617,G,T&fts=all		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF8		G/V		T	low	1702/2692		getma.org/?cm=msa&ty=f&p=XKR8_HUMAN&rb=345&re=395&var=G365V	tolerated(0.6)	Q9NW55_HUMAN			YES	XKR8,missense_variant,p.Gly365Val,ENST00000373884,NM_018053.2;EYA3,downstream_gene_variant,,ENST00000373871,;EYA3,downstream_gene_variant,,ENST00000436342,NM_001990.3;XKR8,downstream_gene_variant,,ENST00000481387,;							MODERATE	1094/1188	G365V	XKR8_HUMAN			Transcript		benign(0.002)	.	ENSP00000362991		CCDS315.1			1	
RICTOR	0	LGGM	GRCh37	5	38952491	38952491	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	3	.	.	ENST00000357387.3:c.2934C>A	p.Thr978=	p.T978=	ENST00000357387	NM_152756.3	978	acC/acA	0	1	1	UPI00003529F3	0		ENST00000357387		ENSG00000164327	28611		28			HGNC	p.T978T		RICTOR		SNV							ENST00000357387	protein_coding			Superfamily_domains:SSF48371,Superfamily_domains:SSF48371,Pfam_domain:PF14668,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298		T		T		2965/9543							YES	RICTOR,synonymous_variant,p.=,ENST00000357387,NM_152756.3;RICTOR,synonymous_variant,p.=,ENST00000296782,NM_001285439.1;RICTOR,downstream_gene_variant,,ENST00000503698,;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;							LOW	2934/5127		RICTR_HUMAN			Transcript			.	ENSP00000349959		CCDS34148.1			1	
ZSCAN2	0	LGGM	GRCh37	15	85147546	85147546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	18	3	.	.	ENST00000448803.2:c.388C>A	p.Gln130Lys	p.Q130K	ENST00000448803	NM_181877.3	130	Cag/Aag	0	1	1	UPI000021D4BC	0	getma.org/pdb.php?prot=ZSCA2_HUMAN&from=51&to=139&var=Q130K	ENST00000448803		ENSG00000176371	20994		21	0.46		HGNC	p.Q130K		ZSCAN2		SNV							ENST00000538076	protein_coding	getma.org/?cm=var&var=hg19,15,85147546,C,A&fts=all		Pfam_domain:PF02023,PROSITE_profiles:PS50804,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF9,SMART_domains:SM00431,Superfamily_domains:SSF47353		Q/K		A	neutral	680/3813		getma.org/?cm=msa&ty=f&p=ZSCA2_HUMAN&rb=51&re=139&var=Q130K	tolerated(0.48)	F8W6Y9_HUMAN,F5H789_HUMAN,F5H2D8_HUMAN,F5H1K4_HUMAN			YES	ZSCAN2,missense_variant,p.Gln130Lys,ENST00000448803,NM_181877.3;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000327179,;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000546148,;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000538076,;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000334141,NM_017894.5;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000541040,;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000485222,;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000379358,NM_001007072.1;ZSCAN2,intron_variant,,ENST00000358472,;ZSCAN2,intron_variant,,ENST00000540936,;ZSCAN2,downstream_gene_variant,,ENST00000502939,;ZSCAN2,downstream_gene_variant,,ENST00000442073,;ZSCAN2,downstream_gene_variant,,ENST00000546275,;ZSCAN2,missense_variant,p.Gln130Lys,ENST00000540894,;							MODERATE	388/1845	Q130K	ZSCA2_HUMAN			Transcript		benign(0.098)	.	ENSP00000410198		CCDS10329.2			1	
ZBTB43	0	LGGM	GRCh37	9	129595552	129595552	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	7	3	.	.	ENST00000373464.4:c.764G>A	p.Cys255Tyr	p.C255Y	ENST00000373464	NM_014007.3	255	tGc/tAc	0	1		UPI000013C34F	0	NA	ENST00000373457		ENSG00000169155	17908		10	0.695		HGNC	p.C255Y		ZBTB43		SNV							ENST00000373457	protein_coding	getma.org/?cm=var&var=hg19,9,129595552,G,A&fts=all		hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF13		C/Y		A	neutral	1865/5695		getma.org/?cm=msa&ty=f&p=ZBT43_HUMAN&rb=168&re=316&var=C255Y	tolerated(0.42)	Q5JU97_HUMAN				ZBTB43,missense_variant,p.Cys255Tyr,ENST00000373464,NM_014007.3;ZBTB43,missense_variant,p.Cys255Tyr,ENST00000449886,NM_001135776.1;ZBTB43,missense_variant,p.Cys255Tyr,ENST00000373457,;ZBTB43,downstream_gene_variant,,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;							MODERATE	764/1404	C255Y	ZBT43_HUMAN			Transcript		benign(0)	.	ENSP00000362556		CCDS6867.1			1	
NBEAL1	0	LGGM	GRCh37	2	204075754	204075754	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	3	.	.	ENST00000449802.1:c.7772C>A	p.Ser2591Ter	p.S2591*	ENST00000449802	NM_001114132.1	2591	tCa/tAa	0	1	1	UPI000194EC27	0	NA	ENST00000449802		ENSG00000144426	20681		25	0		HGNC	p.S606X		NBEAL1		SNV							ENST00000414576	protein_coding	getma.org/?cm=var&var=hg19,2,204075754,C,A&fts=all		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		S/*		A	NA	8105/10938		NA					YES	NBEAL1,stop_gained,p.Ser2591Ter,ENST00000449802,NM_001114132.1;NBEAL1,stop_gained,p.Ser606Ter,ENST00000414576,;NBEAL1,stop_gained,p.Ser119Ter,ENST00000434469,;							HIGH	7772/8085	S2591*	NBEL1_HUMAN			Transcript			.	ENSP00000399903		CCDS46495.1			1	
RIOK3	0	LGGM	GRCh37	18	21047438	21047438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	24	3	.	.	ENST00000339486.3:c.763G>T	p.Gly255Cys	p.G255C	ENST00000339486	NM_003831.3	255	Ggc/Tgc	0	1	1	UPI000013C732	0	getma.org/pdb.php?prot=RIOK3_HUMAN&from=251&to=519&var=G255C	ENST00000339486		ENSG00000101782	11451		27	3.57		HGNC	p.G255C		RIOK3		SNV							ENST00000577501	protein_coding	getma.org/?cm=var&var=hg19,18,21047438,G,T&fts=all		hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF22,Gene3D:3.30.200.20,PIRSF_domain:PIRSF038146,SMART_domains:SM00090,Superfamily_domains:SSF56112		G/C		T	high	1380/4038		getma.org/?cm=msa&ty=f&p=RIOK3_HUMAN&rb=251&re=519&var=G255C	deleterious(0)	B0YJ89_HUMAN			YES	RIOK3,missense_variant,p.Gly255Cys,ENST00000339486,NM_003831.3;RIOK3,missense_variant,p.Gly239Cys,ENST00000581585,;RIOK3,missense_variant,p.Gly255Cys,ENST00000577501,;RIOK3,missense_variant,p.Gly74Cys,ENST00000584130,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000584992,;RIOK3,intron_variant,,ENST00000581339,;RIOK3,downstream_gene_variant,,ENST00000584052,;RIOK3,downstream_gene_variant,,ENST00000584960,;							MODERATE	763/1560	G255C	RIOK3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341874		CCDS11877.1			1	
HDAC7	0	LGGM	GRCh37	12	48183111	48183111	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	3	.	.	ENST00000080059.7:c.2168C>A	p.Ser723Ter	p.S723*	ENST00000080059	NM_015401.3	723	tCa/tAa	0	1		UPI000013F091	0	NA	ENST00000427332		ENSG00000061273	14067		40	0		HGNC	p.S723X		HDAC7		SNV							ENST00000080059	protein_coding	getma.org/?cm=var&var=hg19,12,48183111,G,T&fts=all		Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,Prints_domain:PR01270,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF58,Superfamily_domains:SSF52768		S/*		T	NA	2208/3016		NA		F8VWY3_HUMAN,C9JZ79_HUMAN,C9JS90_HUMAN,C9JNI4_HUMAN,C9JH46_HUMAN,C9JGF5_HUMAN,C9JBC2_HUMAN,C9J102_HUMAN				HDAC7,stop_gained,p.Ser723Ter,ENST00000080059,NM_015401.3;HDAC7,stop_gained,p.Ser686Ter,ENST00000354334,NM_001098416.2;HDAC7,stop_gained,p.Ser740Ter,ENST00000380610,;HDAC7,stop_gained,p.Ser706Ter,ENST00000552960,;HDAC7,stop_gained,p.Ser684Ter,ENST00000427332,;HDAC7,intron_variant,,ENST00000548080,;AC004466.1,downstream_gene_variant,,ENST00000599515,;HDAC7,non_coding_transcript_exon_variant,,ENST00000488927,;HDAC7,upstream_gene_variant,,ENST00000549883,;HDAC7,downstream_gene_variant,,ENST00000477937,;HDAC7,3_prime_UTR_variant,,ENST00000477203,;HDAC7,3_prime_UTR_variant,,ENST00000548938,;HDAC7,non_coding_transcript_exon_variant,,ENST00000459625,;HDAC7,non_coding_transcript_exon_variant,,ENST00000470668,;HDAC7,upstream_gene_variant,,ENST00000471235,;HDAC7,upstream_gene_variant,,ENST00000547259,;							HIGH	2051/2859	S684*	HDAC7_HUMAN			Transcript			.	ENSP00000404394					1	
SEMA4G	0	LGGM	GRCh37	10	102740622	102740622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	39	3	.	.	ENST00000210633.3:c.1511C>A	p.Pro504Gln	p.P504Q	ENST00000210633		504	cCa/cAa	0	1		UPI0000044D3A	0	getma.org/pdb.php?prot=SEM4G_HUMAN&from=35&to=505&var=P504Q	ENST00000370250		ENSG00000095539	10735		42	2.685		HGNC	p.P504Q		SEMA4G		SNV							ENST00000517724	protein_coding	getma.org/?cm=var&var=hg19,10,102740622,C,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF17,Superfamily_domains:SSF101912		P/Q		A	medium	1884/3596		getma.org/?cm=msa&ty=f&p=SEM4G_HUMAN&rb=35&re=505&var=P504Q	deleterious(0)	E5RGX4_HUMAN,E5RFG2_HUMAN				SEMA4G,missense_variant,p.Pro504Gln,ENST00000210633,;SEMA4G,missense_variant,p.Pro504Gln,ENST00000370250,NM_017893.3;SEMA4G,missense_variant,p.Pro504Gln,ENST00000517724,NM_001203244.1;SEMA4G,missense_variant,p.Pro504Gln,ENST00000519649,;MRPL43,intron_variant,,ENST00000318325,NM_176792.2;MRPL43,intron_variant,,ENST00000370242,;MRPL43,intron_variant,,ENST00000523148,;MRPL43,intron_variant,,ENST00000370241,;MRPL43,downstream_gene_variant,,ENST00000342071,NM_176794.1;MRPL43,downstream_gene_variant,,ENST00000299179,NM_176793.1;MRPL43,downstream_gene_variant,,ENST00000448244,;SEMA4G,downstream_gene_variant,,ENST00000518124,;SEMA4G,upstream_gene_variant,,ENST00000476171,;RP11-108L7.4,intron_variant,,ENST00000447344,;SEMA4G,downstream_gene_variant,,ENST00000519756,;SEMA4G,upstream_gene_variant,,ENST00000484128,;MRPL43,downstream_gene_variant,,ENST00000476012,;SEMA4G,missense_variant,p.Pro504Gln,ENST00000521006,;SEMA4G,non_coding_transcript_exon_variant,,ENST00000518948,;							MODERATE	1511/2517	P504Q	SEM4G_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000359270					1	
OSBPL3	0	LGGM	GRCh37	7	24892168	24892168	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	34	3	.	.	ENST00000313367.2:c.1113C>A	p.Ser371=	p.S371=	ENST00000313367	NM_015550.2	371	tcC/tcA	0	1	1	UPI0000001244	0		ENST00000313367		ENSG00000070882	16370		37			HGNC	p.S371S		OSBPL3		SNV							ENST00000409759	protein_coding			hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15		S		T		1565/6760				C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN			YES	OSBPL3,synonymous_variant,p.=,ENST00000313367,NM_015550.2;OSBPL3,synonymous_variant,p.=,ENST00000352860,NM_145320.1;OSBPL3,synonymous_variant,p.=,ENST00000353930,NM_145321.1;OSBPL3,synonymous_variant,p.=,ENST00000431825,NM_145322.1;OSBPL3,synonymous_variant,p.=,ENST00000396431,;OSBPL3,synonymous_variant,p.=,ENST00000396429,;OSBPL3,synonymous_variant,p.=,ENST00000409069,;OSBPL3,synonymous_variant,p.=,ENST00000409863,;OSBPL3,synonymous_variant,p.=,ENST00000409452,;OSBPL3,synonymous_variant,p.=,ENST00000409759,;OSBPL3,synonymous_variant,p.=,ENST00000409555,;OSBPL3,upstream_gene_variant,,ENST00000461835,;							LOW	1113/2664		OSBL3_HUMAN			Transcript			.	ENSP00000315410		CCDS5390.1			1	
INCENP	0	LGGM	GRCh37	11	61908233	61908233	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	12	3	.	.	ENST00000394818.3:c.1401G>T	p.Glu467Asp	p.E467D	ENST00000394818	NM_001040694.1	467	gaG/gaT	0	1	1	UPI0000D7D6F3	0	NA	ENST00000394818		ENSG00000149503	6058		15	1.995		HGNC	p.E467D		INCENP		SNV							ENST00000394818	protein_coding	getma.org/?cm=var&var=hg19,11,61908233,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13142,hmmpanther:PTHR13142:SF1		E/D		T	medium	1603/3964		getma.org/?cm=msa&ty=f&p=INCE_HUMAN&rb=43&re=539&var=E467D	tolerated(0.22)	E9PM67_HUMAN			YES	INCENP,missense_variant,p.Glu467Asp,ENST00000394818,NM_001040694.1;INCENP,missense_variant,p.Glu467Asp,ENST00000278849,NM_020238.2;INCENP,non_coding_transcript_exon_variant,,ENST00000528375,;INCENP,downstream_gene_variant,,ENST00000528037,;							MODERATE	1401/2757	E467D	INCE_HUMAN			Transcript		unknown(0)	.	ENSP00000378295		CCDS44624.1			1	
CDKN2AIPNL	0	LGGM	GRCh37	5	133745657	133745657	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	30	3	.	.	ENST00000458198.2:c.276G>T	p.Met92Ile	p.M92I	ENST00000458198	NM_080656.2	92	atG/atT	0	1	1	UPI000006DC9D	0	NA	ENST00000458198		ENSG00000237190	30545		33	2.16		HGNC	p.M92I		CDKN2AIPNL		SNV							ENST00000458198	protein_coding	getma.org/?cm=var&var=hg19,5,133745657,C,A&fts=all		hmmpanther:PTHR16148,Pfam_domain:PF11952		M/I		A	medium	320/1223		getma.org/?cm=msa&ty=f&p=C2AIL_HUMAN&rb=24&re=115&var=M92I	deleterious(0)				YES	CDKN2AIPNL,missense_variant,p.Met92Ile,ENST00000458198,NM_080656.2;CDKN2AIPNL,downstream_gene_variant,,ENST00000395009,;							MODERATE	276/351	M92I	C2AIL_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000394183		CCDS4175.1			1	
FLNB	0	LGGM	GRCh37	3	58134377	58134377	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	19	3	.	.	ENST00000490882.1:c.5982C>A	p.Gly1994=	p.G1994=	ENST00000490882	NM_001164317.1	1994	ggC/ggA	0	1		UPI00001AEC01	0		ENST00000295956		ENSG00000136068	3755		22			HGNC	p.G1994G		FLNB		SNV			1				ENST00000490882	protein_coding			PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296		G		A		6054/9463								FLNB,splice_region_variant,p.=,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,upstream_gene_variant,,ENST00000466455,;FLNB,splice_region_variant,,ENST00000481470,;FLNB,upstream_gene_variant,,ENST00000477629,;FLNB,downstream_gene_variant,,ENST00000491408,;FLNB,upstream_gene_variant,,ENST00000470231,;							LOW	5889/7809		FLNB_HUMAN			Transcript			.	ENSP00000295956		CCDS2885.1			1	
ERMN	0	LGGM	GRCh37	2	158182033	158182033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	3	.	.	ENST00000397283.2:c.161C>A	p.Pro54Gln	p.P54Q	ENST00000397283	NM_001009959.1	54	cCa/cAa	0	1		UPI000006FE72	0	NA	ENST00000410096		ENSG00000136541	29208		47	0.805		HGNC	p.P41Q		ERMN		SNV							ENST00000409925	protein_coding	getma.org/?cm=var&var=hg19,2,158182033,G,T&fts=all		hmmpanther:PTHR23281		P/Q		T	low	414/3793		getma.org/?cm=msa&ty=f&p=ERMIN_HUMAN&rb=1&re=282&var=P41Q	tolerated(0.1)	C9JN04_HUMAN,C9J6B4_HUMAN,B4DKB4_HUMAN				ERMN,missense_variant,p.Pro41Gln,ENST00000410096,NM_020711.1;ERMN,missense_variant,p.Pro54Gln,ENST00000397283,NM_001009959.1;ERMN,missense_variant,p.Pro41Gln,ENST00000420719,;ERMN,missense_variant,p.Pro41Gln,ENST00000409216,;ERMN,missense_variant,p.Pro41Gln,ENST00000419116,;ERMN,missense_variant,p.Pro41Gln,ENST00000411762,;ERMN,missense_variant,p.Pro41Gln,ENST00000409925,;ERMN,missense_variant,p.Pro41Gln,ENST00000420317,;ERMN,upstream_gene_variant,,ENST00000535935,;ERMN,missense_variant,p.Pro41Gln,ENST00000409395,;							MODERATE	122/855	P41Q	ERMIN_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000387047		CCDS46431.1			1	
CDAN1	0	LGGM	GRCh37	15	43017826	43017826	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	3	.	.	ENST00000356231.3:c.3311G>T	p.Arg1104Met	p.R1104M	ENST00000356231	NM_138477.2	1104	aGg/aTg	0	1	1	UPI0000229BCB	0	NA	ENST00000356231		ENSG00000140326	1713		40	1.39		HGNC	p.R1104M		CDAN1		SNV			1				ENST00000356231	protein_coding	getma.org/?cm=var&var=hg19,15,43017826,C,A&fts=all				R/M		A	low	3335/4637		getma.org/?cm=msa&ty=f&p=CDAN1_HUMAN&rb=259&re=1225&var=R1104M	deleterious(0.01)	H3BM60_HUMAN			YES	CDAN1,missense_variant,p.Arg1104Met,ENST00000356231,NM_138477.2;STARD9,downstream_gene_variant,,ENST00000290607,NM_020759.2;CDAN1,3_prime_UTR_variant,,ENST00000562465,;CDAN1,non_coding_transcript_exon_variant,,ENST00000563604,;STARD9,downstream_gene_variant,,ENST00000562619,;CDAN1,upstream_gene_variant,,ENST00000565930,;							MODERATE	3311/3684	R1104M	CDAN1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000348564		CCDS32209.1			1	
GCN1L1	0	LGGM	GRCh37	12	120582205	120582205	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	12	3	.	.	ENST00000300648.6:c.5400G>T	p.Ala1800=	p.A1800=	ENST00000300648	NM_006836.1	1800	gcG/gcT	0	1	1	UPI00001FBC69	0		ENST00000300648		ENSG00000089154	4199		15			HGNC	p.A1800A		GCN1L1		SNV							ENST00000300648	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		A		A		5413/8675				B4DM32_HUMAN			YES	GCN1L1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;							LOW	5400/8016		GCN1L_HUMAN			Transcript			.	ENSP00000300648		CCDS41847.1			1	
TNC	0	LGGM	GRCh37	9	117783441	117783441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	31	3	.	.	ENST00000350763.4:c.6601G>A	p.Ala2201Thr	p.A2201T	ENST00000350763	NM_002160.3	2201	Gca/Aca	0	1	1	UPI000013D5BD	0	NA	ENST00000350763		ENSG00000041982	5318		34	0.2		HGNC	p.A1564T	COSM3413295	TNC		SNV			1			1	ENST00000537320	protein_coding	getma.org/?cm=var&var=hg19,9,117783441,C,T&fts=all				A/T		T	neutral	7013/7641		getma.org/?cm=msa&ty=f&p=TENA_HUMAN&rb=2160&re=2201&var=A2201T	deleterious(0)	F5H5D6_HUMAN			YES	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,;					1		MODERATE	6601/6606	A2201T	TENA_HUMAN			Transcript		possibly_damaging(0.488)	.	ENSP00000265131		CCDS6811.1			1	
LILRA6	0	LGGM	GRCh37	19	54746149	54746149	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	3	.	.	ENST00000396365.2:c.108C>A	p.Gly36=	p.G36=	ENST00000396365	NM_024318.2	36	ggC/ggA	0	1	1	UPI000022A9CA	0		ENST00000396365		ENSG00000244482	15495		47			HGNC	p.G36G		LILRA6		SNV							ENST00000440558	protein_coding			Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738		G		T		148/1890							YES	LILRA6,synonymous_variant,p.=,ENST00000440558,;LILRB3,synonymous_variant,p.=,ENST00000407860,;LILRA6,synonymous_variant,p.=,ENST00000270464,;LILRA6,synonymous_variant,p.=,ENST00000419410,;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,;							LOW	108/1446		LIRA6_HUMAN			Transcript			.	ENSP00000379651		CCDS42610.1			1	
BMP5	0	LGGM	GRCh37	6	55638855	55638855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	47	3	.	.	ENST00000370830.3:c.1019G>T	p.Ser340Ile	p.S340I	ENST00000370830	NM_021073.2	340	aGt/aTt	0	1	1	UPI0000126A2C	0	NA	ENST00000370830		ENSG00000112175	1072		50	0.695		HGNC	p.S340I		BMP5		SNV							ENST00000446683	protein_coding	getma.org/?cm=var&var=hg19,6,55638855,C,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139		S/I		A	neutral	1718/3952		getma.org/?cm=msa&ty=f&p=BMP5_HUMAN&rb=305&re=349&var=S340I	tolerated(0.11)	M9VUD0_HUMAN			YES	BMP5,missense_variant,p.Ser340Ile,ENST00000370830,NM_021073.2;BMP5,missense_variant,p.Ser340Ile,ENST00000446683,;							MODERATE	1019/1365	S340I	BMP5_HUMAN			Transcript		benign(0.016)	.	ENSP00000359866		CCDS4958.1			1	
MAMDC2	0	LGGM	GRCh37	9	72785469	72785469	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	3	.	.	ENST00000377182.4:c.1573C>A	p.Arg525=	p.R525=	ENST00000377182	NM_153267.4	525	Cgg/Agg	0	1	1	UPI000013E44F	0		ENST00000377182		ENSG00000165072	23673		36			HGNC	p.R525R		MAMDC2		SNV							ENST00000377182	protein_coding			PROSITE_profiles:PS50060,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899,Prints_domain:PR00020		R		A		2190/3616							YES	MAMDC2,synonymous_variant,p.=,ENST00000377182,NM_153267.4;MAMDC2-AS1,non_coding_transcript_exon_variant,,ENST00000448377,;MAMDC2-AS1,non_coding_transcript_exon_variant,,ENST00000535188,;MAMDC2-AS1,intron_variant,,ENST00000377178,;MAMDC2-AS1,intron_variant,,ENST00000591368,;MAMDC2-AS1,downstream_gene_variant,,ENST00000420573,;MAMDC2,non_coding_transcript_exon_variant,,ENST00000460688,;							LOW	1573/2061		MAMC2_HUMAN			Transcript			.	ENSP00000366387		CCDS6631.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18775846	18775846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	28	3	.	.	ENST00000380548.4:c.2503C>A	p.Leu835Met	p.L835M	ENST00000380548	NM_001040272.5	835	Ctg/Atg	0	1	1	UPI000004FD83	0	NA	ENST00000380548		ENSG00000178031	14632		31	2.57		HGNC	p.L835M		ADAMTSL1		SNV							ENST00000380548	protein_coding	getma.org/?cm=var&var=hg19,9,18775846,C,A&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		L/M		A	medium	2842/8030		getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=790&re=849&var=L835M	deleterious(0)	H7BYE3_HUMAN			YES	ADAMTSL1,missense_variant,p.Leu835Met,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;							MODERATE	2503/5289	L835M	ATL1_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000369921		CCDS47954.1			1	
FBXW10	0	LGGM	GRCh37	17	18659385	18659385	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	3	.	.	ENST00000395665.4:c.1150C>A	p.Gln384Lys	p.Q384K	ENST00000395665		384	Cag/Aag	0	1	1	UPI0000200B30	0	NA	ENST00000395665		ENSG00000171931	1211		47	1.95		HGNC	p.Q384K		FBXW10		SNV							ENST00000301938	protein_coding	getma.org/?cm=var&var=hg19,17,18659385,C,A&fts=all		hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872,Superfamily_domains:SSF81383		Q/K		A	medium	1371/3431		getma.org/?cm=msa&ty=f&p=FBW10_HUMAN&rb=201&re=400&var=Q384K	tolerated(0.1)				YES	FBXW10,missense_variant,p.Gln413Lys,ENST00000308799,;FBXW10,missense_variant,p.Gln384Lys,ENST00000395667,NM_001267585.1;FBXW10,missense_variant,p.Gln384Lys,ENST00000395665,;FBXW10,missense_variant,p.Gln384Lys,ENST00000301938,NM_001267586.1;FBXW10,3_prime_UTR_variant,,ENST00000574478,;							MODERATE	1150/3159	Q384K	FBW10_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000379025		CCDS11199.3			1	
PABPC1	0	LGGM	GRCh37	8	101727789	101727789	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	42	3	.	.	ENST00000318607.5:c.544G>T	p.Glu182Ter	p.E182*	ENST00000318607	NM_002568.3	182	Gaa/Taa	0	1	1	UPI0000000BC4	0	NA	ENST00000318607		ENSG00000070756	8554		45	0		HGNC	p.E182X		PABPC1		SNV							ENST00000318607	protein_coding	getma.org/?cm=var&var=hg19,8,101727789,C,A&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239,TIGRFAM_domain:TIGR01628		E/*		A	NA	1673/3485		NA		H0YB75_HUMAN,E7EQV3_HUMAN,E5RJM8_HUMAN,E5RJB9_HUMAN,E5RHG7_HUMAN,E5RH24_HUMAN,E5RGH3_HUMAN,E5RGC4_HUMAN,E5RFD8_HUMAN			YES	PABPC1,stop_gained,p.Glu182Ter,ENST00000318607,NM_002568.3;PABPC1,stop_gained,p.Glu137Ter,ENST00000519004,;PABPC1,stop_gained,p.Glu150Ter,ENST00000522387,;PABPC1,stop_gained,p.Glu54Ter,ENST00000519100,;PABPC1,stop_gained,p.Glu129Ter,ENST00000523555,;PABPC1,downstream_gene_variant,,ENST00000520142,;PABPC1,downstream_gene_variant,,ENST00000518196,;PABPC1,downstream_gene_variant,,ENST00000521865,;PABPC1,downstream_gene_variant,,ENST00000522720,;PABPC1,upstream_gene_variant,,ENST00000517403,;PABPC1,non_coding_transcript_exon_variant,,ENST00000519596,;PABPC1,non_coding_transcript_exon_variant,,ENST00000517921,;PABPC1,upstream_gene_variant,,ENST00000523636,;PABPC1,upstream_gene_variant,,ENST00000519622,;							HIGH	544/1911	E182*	PABP1_HUMAN			Transcript			.	ENSP00000313007		CCDS6289.1			1	
ZMYM1	0	LGGM	GRCh37	1	35580203	35580203	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	42	3	.	.	ENST00000373330.1:c.2772C>A	p.Thr924=	p.T924=	ENST00000373330		924	acC/acA	0	1		UPI0000203ED6	0		ENST00000359858		ENSG00000197056	26253		45			HGNC	p.T924T		ZMYM1		SNV							ENST00000373330	protein_coding			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF88,Superfamily_domains:SSF53098		T		A		2922/4175				Q9H5R2_HUMAN,Q5SW02_HUMAN,Q5SVZ7_HUMAN				ZMYM1,synonymous_variant,p.=,ENST00000373330,;ZMYM1,synonymous_variant,p.=,ENST00000359858,NM_024772.3;ZMYM1,downstream_gene_variant,,ENST00000417119,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000488455,;ZMYM1,downstream_gene_variant,,ENST00000475654,;ZMYM1,downstream_gene_variant,,ENST00000463393,;							LOW	2772/3429		ZMYM1_HUMAN			Transcript			.	ENSP00000352920		CCDS41302.1			1	
SOWAHB	0	LGGM	GRCh37	4	77817968	77817968	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	28	3	.	.	ENST00000334306.2:c.1035G>T	p.Thr345=	p.T345=	ENST00000334306	NM_001029870.1	345	acG/acT	0	1	1	UPI000019777A	0		ENST00000334306		ENSG00000186212	32958		31			HGNC	p.T345T		SOWAHB		SNV							ENST00000334306	protein_coding			hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF3		T		A		1035/2921							YES	SOWAHB,synonymous_variant,p.=,ENST00000334306,NM_001029870.1;							LOW	1035/2382		SWAHB_HUMAN			Transcript			.	ENSP00000334879		CCDS34017.1			1	
GABRB3	0	LGGM	GRCh37	15	27017831	27017831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	11	3	.	.	ENST00000311550.5:c.169G>T	p.Gly57Trp	p.G57W	ENST00000311550	NM_000814.5	57	Ggg/Tgg	0	1	1	UPI000012AFB0	0	getma.org/pdb.php?prot=GBRB3_HUMAN&from=37&to=243&var=G57W	ENST00000311550		ENSG00000166206	4083		14	3.66		HGNC	p.G57W		GABRB3		SNV			1				ENST00000299267	protein_coding	getma.org/?cm=var&var=hg19,15,27017831,C,A&fts=all		hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932		G/W		A	high	281/5781		getma.org/?cm=msa&ty=f&p=GBRB3_HUMAN&rb=37&re=243&var=G57W	deleterious(0)	G3V5B4_HUMAN			YES	GABRB3,missense_variant,p.Gly113Trp,ENST00000541819,;GABRB3,missense_variant,p.Gly57Trp,ENST00000311550,NM_000814.5,NM_001278631.1;GABRB3,missense_variant,p.Gly57Trp,ENST00000299267,NM_021912.4;GABRB3,non_coding_transcript_exon_variant,,ENST00000557641,;GABRB3,non_coding_transcript_exon_variant,,ENST00000554722,;GABRB3,missense_variant,p.Gly57Trp,ENST00000555632,;GABRB3,missense_variant,p.Gly57Trp,ENST00000554556,;							MODERATE	169/1422	G57W	GBRB3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000308725		CCDS10019.1			1	
RAB3IP	0	LGGM	GRCh37	12	70178542	70178542	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	3	.	.	ENST00000550536.1:c.601G>T	p.Val201Leu	p.V201L	ENST00000550536	NM_175623.3	201	Gtg/Ttg	0	1	1	UPI000006EB02	0	getma.org/pdb.php?prot=RAB3I_HUMAN&from=186&to=314&var=V201L	ENST00000550536		ENSG00000127328	16508		36	1.81		HGNC	p.V185L		RAB3IP		SNV							ENST00000247833	protein_coding	getma.org/?cm=var&var=hg19,12,70178542,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14430:SF2,hmmpanther:PTHR14430,Pfam_domain:PF06428,Superfamily_domains:0053574		V/L		T	low	1058/9646		getma.org/?cm=msa&ty=f&p=RAB3I_HUMAN&rb=186&re=314&var=V201L	deleterious(0.05)	F8VNX9_HUMAN			YES	RAB3IP,missense_variant,p.Val201Leu,ENST00000550536,NM_175623.3,NM_175625.3;RAB3IP,missense_variant,p.Val185Leu,ENST00000247833,NM_022456.4;RAB3IP,missense_variant,p.Val185Leu,ENST00000378815,;RAB3IP,missense_variant,p.Val201Leu,ENST00000362025,;RAB3IP,missense_variant,p.Val185Leu,ENST00000483530,NM_175624.3;RAB3IP,missense_variant,p.Val75Leu,ENST00000550647,;RAB3IP,missense_variant,p.Val62Leu,ENST00000547055,;RAB3IP,5_prime_UTR_variant,,ENST00000551641,NM_001024647.3;RAB3IP,5_prime_UTR_variant,,ENST00000553099,NM_001278402.1;RAB3IP,5_prime_UTR_variant,,ENST00000325555,;RAB3IP,missense_variant,p.Val201Leu,ENST00000378809,;RAB3IP,missense_variant,p.Val201Leu,ENST00000552199,;RAB3IP,missense_variant,p.Val185Leu,ENST00000417413,;RAB3IP,3_prime_UTR_variant,,ENST00000547591,;							MODERATE	601/1431	V201L	RAB3I_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000447300		CCDS8993.1			1	
SLC30A5	0	LGGM	GRCh37	5	68404263	68404263	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	26	3	.	.	ENST00000396591.3:c.447G>T	p.Lys149Asn	p.K149N	ENST00000396591	NM_022902.4	149	aaG/aaT	0	1	1	UPI0000073958	0	NA	ENST00000396591		ENSG00000145740	19089		29	2.045		HGNC	p.K149N		SLC30A5		SNV							ENST00000396591	protein_coding	getma.org/?cm=var&var=hg19,5,68404263,G,T&fts=all		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF24		K/N		T	medium	1057/4360		getma.org/?cm=msa&ty=f&p=ZNT5_HUMAN&rb=1&re=200&var=K149N	deleterious(0)	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN			YES	SLC30A5,missense_variant,p.Lys149Asn,ENST00000396591,NM_022902.4;SLC30A5,downstream_gene_variant,,ENST00000380860,NM_024055.4;SLC30A5,downstream_gene_variant,,ENST00000502979,NM_001251969.1;SLC30A5,downstream_gene_variant,,ENST00000504103,;CTC-498J12.3,downstream_gene_variant,,ENST00000504129,;SLC30A5,splice_region_variant,,ENST00000507354,;							MODERATE	447/2298	K149N	ZNT5_HUMAN			Transcript		benign(0.36)	.	ENSP00000379836		CCDS3996.1			1	
PAX4	0	LGGM	GRCh37	7	127253575	127253575	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	35	3	.	.	ENST00000341640.2:c.550G>T	p.Gly184Trp	p.G184W	ENST00000341640	NM_006193.2	184	Ggg/Tgg	0	1	1	UPI000013C824	0	getma.org/pdb.php?prot=PAX4_HUMAN&from=171&to=227&var=G192W	ENST00000341640		ENSG00000106331	8618		38	0.695		HGNC	p.G192W	COSM599088	PAX4		SNV			1			1	ENST00000338516	protein_coding	getma.org/?cm=var&var=hg19,7,127253575,C,A&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,SMART_domains:SM00389,Superfamily_domains:SSF46689		G/W		A	neutral	756/2010		getma.org/?cm=msa&ty=f&p=PAX4_HUMAN&rb=171&re=227&var=G192W	deleterious(0.02)				YES	PAX4,missense_variant,p.Gly184Trp,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Gly192Trp,ENST00000338516,;PAX4,missense_variant,p.Gly182Trp,ENST00000463946,;PAX4,missense_variant,p.Gly184Trp,ENST00000378740,;PAX4,missense_variant,p.Gly182Trp,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;					1		MODERATE	550/1032	G192W	PAX4_HUMAN			Transcript		possibly_damaging(0.455)	.	ENSP00000339906		CCDS5797.1			1	
NUGGC	0	LGGM	GRCh37	8	27886860	27886860	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	28	3	.	.	ENST00000413272.2:c.2077G>T	p.Gly693Ter	p.G693*	ENST00000413272	NM_001010906.1	693	Gga/Tga	0	1	1	UPI0000237454	0	NA	ENST00000413272		ENSG00000189233	33550		31	0		HGNC	p.G693X		NUGGC		SNV							ENST00000341513	protein_coding	getma.org/?cm=var&var=hg19,8,27886860,C,A&fts=all				G/*		A	NA	2220/3887		NA					YES	NUGGC,stop_gained,p.Gly693Ter,ENST00000413272,NM_001010906.1;NUGGC,stop_gained,p.Gly693Ter,ENST00000341513,;							HIGH	2077/2391	G693*	SLIP_HUMAN			Transcript			.	ENSP00000408697		CCDS47833.1			1	
HSD3B1	0	LGGM	GRCh37	1	120057235	120057235	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	29	3	.	.	ENST00000369413.3:c.1089G>A	p.Arg363=	p.R363=	ENST00000369413		363	cgG/cgA	0	1	1	UPI0000036BD2	0		ENST00000369413		ENSG00000203857	5217		32			HGNC	p.R363R	rs769655545	HSD3B1		SNV							ENST00000369413	protein_coding			hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF296		R		A		1234/1676	3.02E-05			E9PRN7_HUMAN			YES	HSD3B1,synonymous_variant,p.=,ENST00000235547,NM_000862.2;HSD3B1,synonymous_variant,p.=,ENST00000369413,;HSD3B1,synonymous_variant,p.=,ENST00000528909,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;							LOW	1089/1122		3BHS1_HUMAN			Transcript			.	ENSP00000358421	2.47E-05	CCDS903.1			1	
AMBN	0	LGGM	GRCh37	4	71469035	71469035	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	43	3	.	.	ENST00000322937.6:c.707C>A	p.Pro236Gln	p.P236Q	ENST00000322937	NM_016519.5	236	cCa/cAa	0	1	1	UPI000000DCCB	0	NA	ENST00000322937		ENSG00000178522	452		46	0.895		HGNC	p.P236Q		AMBN		SNV			1				ENST00000322937	protein_coding	getma.org/?cm=var&var=hg19,4,71469035,C,A&fts=all		Pfam_domain:PF05111,hmmpanther:PTHR14115,hmmpanther:PTHR14115:SF0,SMART_domains:SM00817		P/Q		A	low	810/2005		getma.org/?cm=msa&ty=f&p=AMBN_HUMAN&rb=191&re=447&var=P236Q	tolerated(0.13)	Q546D7_HUMAN			YES	AMBN,missense_variant,p.Pro236Gln,ENST00000322937,NM_016519.5;AMBN,missense_variant,p.Pro221Gln,ENST00000449493,;							MODERATE	707/1344	P236Q	AMBN_HUMAN			Transcript		possibly_damaging(0.583)	.	ENSP00000313809		CCDS3543.1			1	
CLTCL1	0	LGGM	GRCh37	22	19241748	19241748	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	46	3	.	.	ENST00000263200.10:c.253G>T	p.Gly85Trp	p.G85W	ENST00000263200	NM_007098.3	85	Ggg/Tgg	0	1		UPI0000127ABE	0	getma.org/pdb.php?prot=CLH2_HUMAN&from=1&to=147&var=G85W	ENST00000427926		ENSG00000070371	2093		49	3.315		HGNC	p.G85W		CLTCL1		SNV							ENST00000263200	protein_coding	getma.org/?cm=var&var=hg19,22,19241748,C,A&fts=all		hmmpanther:PTHR10292:SF6,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096		G/W		A	medium	328/5512		getma.org/?cm=msa&ty=f&p=CLH2_HUMAN&rb=1&re=147&var=G85W	deleterious(0)					CLTCL1,missense_variant,p.Gly85Trp,ENST00000263200,NM_007098.3;CLTCL1,missense_variant,p.Gly85Trp,ENST00000427926,;CLTCL1,missense_variant,p.Gly85Trp,ENST00000353891,NM_001835.3;CLTCL1,missense_variant,p.Gly106Trp,ENST00000449918,;SNORA15,downstream_gene_variant,,ENST00000516131,;CLTCL1,missense_variant,p.Gly85Trp,ENST00000505027,;CLTCL1,splice_region_variant,,ENST00000413132,;KRT18P62,upstream_gene_variant,,ENST00000446618,;							MODERATE	253/4923	G85W	CLH2_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000441158					1	
B4GALNT1	0	LGGM	GRCh37	12	58020609	58020609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	38	3	.	.	ENST00000341156.4:c.1520C>A	p.Pro507Gln	p.P507Q	ENST00000341156	NM_001478.4	507	cCa/cAa	0	1	1	UPI0000126DD5	0	NA	ENST00000341156		ENSG00000135454	4117		41	1.955		HGNC	p.P507Q		B4GALNT1		SNV			1				ENST00000341156	protein_coding	getma.org/?cm=var&var=hg19,12,58020609,G,T&fts=all		hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474		P/Q		T	medium	2105/3036		getma.org/?cm=msa&ty=f&p=B4GN1_HUMAN&rb=450&re=533&var=P507Q	deleterious(0.01)	F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN			YES	B4GALNT1,missense_variant,p.Pro507Gln,ENST00000341156,NM_001478.4;B4GALNT1,missense_variant,p.Pro452Gln,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,;							MODERATE	1520/1602	P507Q	B4GN1_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000341562		CCDS8950.1			1	
ZFP14	0	LGGM	GRCh37	19	36851398	36851398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	3	.	.	ENST00000270001.7:c.174G>T	p.Leu58Phe	p.L58F	ENST00000270001	NM_020917.2	58	ttG/ttT	0	1	1	UPI000013AD55	0	NA	ENST00000270001		ENSG00000142065	29312		40	3.055		HGNC	p.L59F		ZFP14		SNV							ENST00000589280	protein_coding	getma.org/?cm=var&var=hg19,19,36851398,C,A&fts=all		Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF253,SMART_domains:SM00349		L/F		A	medium	290/5682		getma.org/?cm=msa&ty=f&p=ZFP14_HUMAN&rb=6&re=78&var=L58F	deleterious(0.01)				YES	ZFP14,missense_variant,p.Leu58Phe,ENST00000270001,NM_020917.2;ZFP14,missense_variant,p.Leu59Phe,ENST00000589280,;							MODERATE	174/1602	L58F	ZFP14_HUMAN			Transcript		benign(0.058)	.	ENSP00000270001		CCDS33002.1			1	
KIAA1551	0	LGGM	GRCh37	12	32138858	32138858	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	31	3	.	.	ENST00000312561.4:c.4969C>A	p.Pro1657Thr	p.P1657T	ENST00000312561	NM_018169.3	1657	Cct/Act	0	1	1	UPI0000577B2F	0	NA	ENST00000312561		ENSG00000174718	25559		34	1.265		HGNC	p.P1657T		KIAA1551		SNV							ENST00000312561	protein_coding	getma.org/?cm=var&var=hg19,12,32138858,C,A&fts=all		Pfam_domain:PF15395,hmmpanther:PTHR21604		P/T		A	low	5383/6228		getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=1574&re=1747&var=P1657T	deleterious(0.02)	J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,missense_variant,p.Pro1657Thr,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,;							MODERATE	4969/5244	P1657T	K1551_HUMAN			Transcript		benign(0.436)	.	ENSP00000310338		CCDS8725.2			1	
FDFT1	0	LGGM	GRCh37	8	11696014	11696014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	3	.	.	ENST00000220584.4:c.1150C>A	p.Pro384Thr	p.P384T	ENST00000220584	NM_004462.3	384	Ccc/Acc	0	1	1	UPI000012A5D5	0	NA	ENST00000220584		ENSG00000079459	3629		25	1.1		HGNC	p.P341T		FDFT1		SNV							ENST00000443614	protein_coding	getma.org/?cm=var&var=hg19,8,11696014,C,A&fts=all		hmmpanther:PTHR11626		P/T		A	low	1372/2176		getma.org/?cm=msa&ty=f&p=FDFT_HUMAN&rb=321&re=417&var=P384T	deleterious(0.02)	Q6IAX1_HUMAN,E9PJG4_HUMAN,B7Z1J3_HUMAN,B4DT56_HUMAN,B3KQ95_HUMAN			YES	FDFT1,missense_variant,p.Pro384Thr,ENST00000220584,NM_004462.3,NM_001287748.1,NM_001287743.1,NM_001287742.1;FDFT1,missense_variant,p.Pro320Thr,ENST00000528812,NM_001287747.1;FDFT1,missense_variant,p.Pro273Thr,ENST00000538689,NM_001287744.1;FDFT1,missense_variant,p.Pro299Thr,ENST00000528643,NM_001287751.1;FDFT1,missense_variant,p.Pro320Thr,ENST00000530664,;FDFT1,missense_variant,p.Pro377Thr,ENST00000525900,;FDFT1,missense_variant,p.Pro299Thr,ENST00000525777,;FDFT1,missense_variant,p.Pro341Thr,ENST00000443614,;CTSB,downstream_gene_variant,,ENST00000353047,NM_001908.3;CTSB,downstream_gene_variant,,ENST00000434271,;FDFT1,non_coding_transcript_exon_variant,,ENST00000446331,;FDFT1,3_prime_UTR_variant,,ENST00000525607,;FDFT1,non_coding_transcript_exon_variant,,ENST00000525954,;CTSB,downstream_gene_variant,,ENST00000526481,;							MODERATE	1150/1254	P384T	FDFT_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000220584		CCDS5985.1			1	
PIGN	0	LGGM	GRCh37	18	59824453	59824453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	36	3	.	.	ENST00000357637.5:c.351G>T	p.Lys117Asn	p.K117N	ENST00000357637	NM_176787.4	117	aaG/aaT	0	1	1	UPI0000070A47	0	NA	ENST00000357637		ENSG00000197563	8967		39	3.03		HGNC	p.K117N		PIGN		SNV			1				ENST00000400334	protein_coding	getma.org/?cm=var&var=hg19,18,59824453,C,A&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR12250,Superfamily_domains:SSF53649		K/N		A	medium	767/5501		getma.org/?cm=msa&ty=f&p=PIGN_HUMAN&rb=46&re=343&var=K117N	deleterious(0)	K7ESH9_HUMAN,K7ERX5_HUMAN,K7EQG0_HUMAN,K7EPN0_HUMAN,K7ENC3_HUMAN,K7EMD7_HUMAN,K7EM45_HUMAN,K7ELE1_HUMAN,K7EL34_HUMAN,K7EK83_HUMAN			YES	PIGN,missense_variant,p.Lys117Asn,ENST00000357637,NM_176787.4;PIGN,missense_variant,p.Lys117Asn,ENST00000400334,NM_012327.5;PIGN,missense_variant,p.Lys117Asn,ENST00000589720,;PIGN,missense_variant,p.Lys117Asn,ENST00000585923,;PIGN,missense_variant,p.Lys40Asn,ENST00000588748,;PIGN,missense_variant,p.Lys40Asn,ENST00000591238,;PIGN,missense_variant,p.Lys81Asn,ENST00000590765,;PIGN,missense_variant,p.Lys40Asn,ENST00000585458,;PIGN,missense_variant,p.Lys22Asn,ENST00000589098,;PIGN,downstream_gene_variant,,ENST00000587134,;PIGN,downstream_gene_variant,,ENST00000585344,;PIGN,downstream_gene_variant,,ENST00000588571,;PIGN,downstream_gene_variant,,ENST00000589339,;PIGN,downstream_gene_variant,,ENST00000585926,;PIGN,upstream_gene_variant,,ENST00000592803,;							MODERATE	351/2796	K117N	PIGN_HUMAN			Transcript		possibly_damaging(0.788)	.	ENSP00000350263		CCDS45879.1			1	
IQGAP3	0	LGGM	GRCh37	1	156531759	156531759	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	23	3	.	.	ENST00000361170.2:c.912G>C	p.Leu304=	p.L304=	ENST00000361170	NM_178229.4	304	ctG/ctC	0	1	1	UPI000046FFDD	0		ENST00000361170		ENSG00000183856	20669		26			HGNC	p.L304L		IQGAP3		SNV							ENST00000361170	protein_coding			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10		L		G		923/5988				F2Z2E2_HUMAN			YES	IQGAP3,synonymous_variant,p.=,ENST00000361170,NM_178229.4;IQGAP3,synonymous_variant,p.=,ENST00000491900,;							LOW	912/4896		IQGA3_HUMAN			Transcript			.	ENSP00000354451		CCDS1144.1			1	
CILP2	0	LGGM	GRCh37	19	19654639	19654639	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	3	.	.	ENST00000291495.5:c.1285C>A	p.Arg429Ser	p.R429S	ENST00000291495	NM_153221.2	429	Cgc/Agc	0	1	1	UPI000013E04D	0	NA	ENST00000291495		ENSG00000160161	24213		25	1.79		HGNC	p.R435S	rs376026094	CILP2		SNV	A:0						ENST00000586018	protein_coding	getma.org/?cm=var&var=hg19,19,19654639,C,A&fts=all		hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031		R/S	A:0.0001	A	low	1370/4199	1.52E-05	getma.org/?cm=msa&ty=f&p=CILP2_HUMAN&rb=399&re=1132&var=R429S	deleterious(0.04)				YES	CILP2,missense_variant,p.Arg435Ser,ENST00000586018,;CILP2,missense_variant,p.Arg429Ser,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;							MODERATE	1285/3471	R429S	CILP2_HUMAN			Transcript		benign(0.013)	.	ENSP00000291495	8.24E-06	CCDS12405.1			1	
CIAO1	0	LGGM	GRCh37	2	96934273	96934273	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	34	3	.	.	ENST00000488633.1:c.568C>A	p.Leu190Ile	p.L190I	ENST00000488633	NM_004804.2	190	Ctt/Att	0	1	1	UPI0000127987	0	getma.org/pdb.php?prot=CIAO1_HUMAN&from=184&to=222&var=L190I	ENST00000488633		ENSG00000144021	14280		37	1.455		HGNC	p.L190I		CIAO1		SNV							ENST00000488633	protein_coding	getma.org/?cm=var&var=hg19,2,96934273,C,A&fts=all		HAMAP:MF_03037,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19920,hmmpanther:PTHR19920:SF0,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		L/I		A	low	787/1533		getma.org/?cm=msa&ty=f&p=CIAO1_HUMAN&rb=184&re=222&var=L190I	deleterious(0.01)				YES	CIAO1,missense_variant,p.Leu190Ile,ENST00000488633,NM_004804.2;TMEM127,upstream_gene_variant,,ENST00000258439,NM_001193304.2,NM_017849.3;TMEM127,upstream_gene_variant,,ENST00000432959,;CIAO1,downstream_gene_variant,,ENST00000469320,;CIAO1,non_coding_transcript_exon_variant,,ENST00000272402,;CIAO1,downstream_gene_variant,,ENST00000491394,;							MODERATE	568/1020	L190I	CIAO1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000418287		CCDS2019.1			1	
HMGCS2	0	LGGM	GRCh37	1	120307146	120307146	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	32	3	.	.	ENST00000369406.3:c.208C>A	p.Gln70Lys	p.Q70K	ENST00000369406	NM_005518.3	70	Caa/Aaa	0	1	1	UPI000000DA7A	0	getma.org/pdb.php?prot=HMCS2_HUMAN&from=50&to=223&var=Q70K	ENST00000369406		ENSG00000134240	5008		35	4.275		HGNC	p.Q70K		HMGCS2		SNV			1				ENST00000369406	protein_coding	getma.org/?cm=var&var=hg19,1,120307146,G,T&fts=all		Gene3D:3.40.47.10,Pfam_domain:PF01154,hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF16,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01833		Q/K		T	high	258/2428		getma.org/?cm=msa&ty=f&p=HMCS2_HUMAN&rb=50&re=223&var=Q70K	deleterious(0)				YES	HMGCS2,missense_variant,p.Gln70Lys,ENST00000369406,NM_005518.3;HMGCS2,missense_variant,p.Gln70Lys,ENST00000544913,NM_001166107.1;HMGCS2,non_coding_transcript_exon_variant,,ENST00000476640,;							MODERATE	208/1527	Q70K	HMCS2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000358414		CCDS905.1			1	
GPR125	0	LGGM	GRCh37	4	22456538	22456538	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	3	.	.	ENST00000334304.5:c.424G>T	p.Gly142Ter	p.G142*	ENST00000334304	NM_145290.3	142	Gga/Tga	0	1	1	UPI00001D7735	0	NA	ENST00000334304		ENSG00000152990	13839		28	0		HGNC	p.G142X		GPR125		SNV							ENST00000502482	protein_coding	getma.org/?cm=var&var=hg19,4,22456538,C,A&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35,PROSITE_profiles:PS51450		G/*		A	NA	694/4557		NA		Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN			YES	GPR125,stop_gained,p.Gly142Ter,ENST00000334304,NM_145290.3;GPR125,stop_gained,p.Gly142Ter,ENST00000502482,;GPR125,5_prime_UTR_variant,,ENST00000514129,;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;GPR125,non_coding_transcript_exon_variant,,ENST00000513385,;GPR125,non_coding_transcript_exon_variant,,ENST00000514749,;GPR125,intron_variant,,ENST00000506133,;							HIGH	424/3966	G142*	GP125_HUMAN			Transcript			.	ENSP00000334952		CCDS33964.1			1	
B3GNT1	0	LGGM	GRCh37	11	66114295	66114295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	43	3	.	.	ENST00000311181.4:c.722G>T	p.Arg241Leu	p.R241L	ENST00000311181	NM_006876.2	241	cGg/cTg	0	1	1	UPI00000358A1	0	NA	ENST00000311181		ENSG00000174684	15685		46	-0.175		HGNC	p.R241L		B3GNT1		SNV			1				ENST00000311181	protein_coding	getma.org/?cm=var&var=hg19,11,66114295,C,A&fts=all		hmmpanther:PTHR12270:SF20,hmmpanther:PTHR12270,Pfam_domain:PF13896		R/L		A	neutral	869/2072		getma.org/?cm=msa&ty=f&p=B3GN1_HUMAN&rb=94&re=409&var=R241L	tolerated(1)	B4DGI0_HUMAN			YES	B3GNT1,missense_variant,p.Arg241Leu,ENST00000311181,NM_006876.2;BRMS1,upstream_gene_variant,,ENST00000359957,NM_015399.3;BRMS1,upstream_gene_variant,,ENST00000425825,NM_001024957.1;BRMS1,upstream_gene_variant,,ENST00000524699,;BRMS1,upstream_gene_variant,,ENST00000530756,;RP11-867G23.8,upstream_gene_variant,,ENST00000531602,;RP11-867G23.8,upstream_gene_variant,,ENST00000580881,;RP11-867G23.8,upstream_gene_variant,,ENST00000581155,;BRMS1,upstream_gene_variant,,ENST00000530238,;BRMS1,upstream_gene_variant,,ENST00000527375,;BRMS1,upstream_gene_variant,,ENST00000534617,;BRMS1,upstream_gene_variant,,ENST00000525127,;BRMS1,upstream_gene_variant,,ENST00000529544,;							MODERATE	722/1248	R241L	B3GN1_HUMAN			Transcript		benign(0.003)	.	ENSP00000309096		CCDS8136.1			1	
RTN2	0	LGGM	GRCh37	19	45997887	45997887	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	38	3	.	.	ENST00000245923.4:c.456G>T	p.Arg152=	p.R152=	ENST00000245923	NM_005619.4	152	cgG/cgT	0	1	1	UPI00001352DC	0		ENST00000245923		ENSG00000125744	10468		41			HGNC	p.R152R		RTN2		SNV			1				ENST00000245923	protein_coding			hmmpanther:PTHR10994:SF66,hmmpanther:PTHR10994		R		A		692/2293				K7EMR7_HUMAN			YES	RTN2,synonymous_variant,p.=,ENST00000245923,NM_005619.4;RTN2,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000587597,;RTN2,synonymous_variant,p.=,ENST00000591286,;RTN2,non_coding_transcript_exon_variant,,ENST00000592064,;PPM1N,upstream_gene_variant,,ENST00000415077,;							LOW	456/1638		RTN2_HUMAN			Transcript			.	ENSP00000245923		CCDS12665.1			1	
MEGF6	0	LGGM	GRCh37	1	3424471	3424471	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	17	3	.	.	ENST00000356575.4:c.1677C>A	p.Thr559=	p.T559=	ENST00000356575	NM_001409.3	559	acC/acA	0	1	1	UPI0000DACACB	0		ENST00000356575		ENSG00000162591	3232		20			HGNC	p.T559T		MEGF6		SNV							ENST00000356575	protein_coding			Gene3D:2gy5A03,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF29,Superfamily_domains:SSF57184		T		T		1904/5455							YES	MEGF6,synonymous_variant,p.=,ENST00000356575,NM_001409.3;MEGF6,synonymous_variant,p.=,ENST00000294599,;MEGF6,synonymous_variant,p.=,ENST00000485002,;							LOW	1677/4626		MEGF6_HUMAN			Transcript			.	ENSP00000348982		CCDS41237.1			1	
HAO2	0	LGGM	GRCh37	1	119934884	119934884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	45	3	.	.	ENST00000325945.3:c.923C>T	p.Ala308Val	p.A308V	ENST00000325945	NM_016527.2	308	gCc/gTc	0	1	1	UPI000000106A	0	getma.org/pdb.php?prot=HAOX2_HUMAN&from=13&to=348&var=A308V	ENST00000325945		ENSG00000116882	4810		48	2.625		HGNC	p.A308V		HAO2		SNV							ENST00000325945	protein_coding	getma.org/?cm=var&var=hg19,1,119934884,C,T&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF56,Superfamily_domains:SSF51395		A/V		T	medium	996/1417		getma.org/?cm=msa&ty=f&p=HAOX2_HUMAN&rb=13&re=348&var=A308V	tolerated(0.05)				YES	HAO2,missense_variant,p.Ala321Val,ENST00000361035,NM_001005783.1;HAO2,missense_variant,p.Ala308Val,ENST00000325945,NM_016527.2;HAO2,upstream_gene_variant,,ENST00000482991,;							MODERATE	923/1056	A308V	HAOX2_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000316339		CCDS901.1			1	
FNIP2	0	LGGM	GRCh37	4	159753227	159753227	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	21	3	.	.	ENST00000264433.6:c.491C>A	p.Pro164Gln	p.P164Q	ENST00000264433	NM_020840.1	164	cCa/cAa	0	1	1	UPI00001C1E0A	0	NA	ENST00000264433		ENSG00000052795	29280		24	2.71		HGNC	p.P164Q		FNIP2		SNV							ENST00000264433	protein_coding	getma.org/?cm=var&var=hg19,4,159753227,C,A&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11,Pfam_domain:PF14636		P/Q		A	medium	566/6925		getma.org/?cm=msa&ty=f&p=FNIP2_HUMAN&rb=1&re=200&var=P164Q	deleterious(0.01)				YES	FNIP2,missense_variant,p.Pro164Gln,ENST00000264433,NM_020840.1;FNIP2,missense_variant,p.Pro187Gln,ENST00000379346,;FNIP2,missense_variant,p.Pro187Gln,ENST00000512986,;FNIP2,upstream_gene_variant,,ENST00000504715,;FNIP2,downstream_gene_variant,,ENST00000505445,;FNIP2,non_coding_transcript_exon_variant,,ENST00000504704,;							MODERATE	491/3345	P164Q	FNIP2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264433		CCDS47155.1			1	
HYCC2	0	LGGM	GRCh37	2	201846458	201846458	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	28	3	.	.	ENST00000418596.3:c.1128G>T	p.Arg376Ser	p.R376S	ENST00000418596	NM_173822.3	376	agG/agT	0	1	1	UPI0000074347	0	NA	ENST00000418596		ENSG00000155744	28593		31	0.345		HGNC	p.R376S		FAM126B		SNV							ENST00000418596	protein_coding	getma.org/?cm=var&var=hg19,2,201846458,C,A&fts=all		hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3		R/S		A	neutral	1316/9333		getma.org/?cm=msa&ty=f&p=F126B_HUMAN&rb=331&re=381&var=R376S	tolerated(0.15)	C9JTA1_HUMAN,C9JNS4_HUMAN,B3KW57_HUMAN			YES	FAM126B,missense_variant,p.Arg376Ser,ENST00000418596,NM_173822.3;AC005037.3,intron_variant,,ENST00000413848,;AC005037.3,downstream_gene_variant,,ENST00000332935,;FAM126B,3_prime_UTR_variant,,ENST00000286181,;							MODERATE	1128/1593	R376S	F126B_HUMAN			Transcript		benign(0.077)	.	ENSP00000393667		CCDS2335.1			1	
TRIP10	0	LGGM	GRCh37	19	6744857	6744857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	3	.	.	ENST00000313285.8:c.836C>A	p.Pro279Gln	p.P279Q	ENST00000313285	NM_004240.2	279	cCg/cAg	0	1		UPI000006DB86	0	getma.org/pdb.php?prot=G5E9U1_HUMAN&from=201&to=400&var=P279Q	ENST00000313244		ENSG00000125733	12304		36	2.845		HGNC	p.P279Q		TRIP10		SNV							ENST00000600677	protein_coding	getma.org/?cm=var&var=hg19,19,6744857,C,A&fts=all		hmmpanther:PTHR12602,hmmpanther:PTHR12602:SF7,Superfamily_domains:SSF103657		P/Q		A	medium	871/2153		getma.org/?cm=msa&ty=f&p=G5E9U1_HUMAN&rb=201&re=400&var=P279Q	deleterious(0)	M0R070_HUMAN				TRIP10,missense_variant,p.Pro171Gln,ENST00000600428,;TRIP10,missense_variant,p.Pro279Gln,ENST00000313244,;TRIP10,missense_variant,p.Pro279Gln,ENST00000313285,NM_004240.2;TRIP10,missense_variant,p.Pro279Gln,ENST00000596758,;TRIP10,downstream_gene_variant,,ENST00000596673,;CTD-3128G10.6,downstream_gene_variant,,ENST00000594056,;TRIP10,downstream_gene_variant,,ENST00000596543,;TRIP10,downstream_gene_variant,,ENST00000601303,;TRIP10,missense_variant,p.Pro279Gln,ENST00000600677,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595305,;TRIP10,non_coding_transcript_exon_variant,,ENST00000600491,;TRIP10,downstream_gene_variant,,ENST00000596078,;TRIP10,downstream_gene_variant,,ENST00000595319,;TRIP10,upstream_gene_variant,,ENST00000598843,;							MODERATE	836/1806	P279Q	CIP4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000320117					1	
NAB1	0	LGGM	GRCh37	2	191552034	191552034	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	40	3	.	.	ENST00000337386.5:c.1366C>A	p.His456Asn	p.H456N	ENST00000337386	NM_005966.3	456	Cac/Aac	0	1	1	UPI0000001C43	0	NA	ENST00000337386		ENSG00000138386	7626		43	0.205		HGNC	p.H455N		NAB1		SNV							ENST00000409641	protein_coding	getma.org/?cm=var&var=hg19,2,191552034,C,A&fts=all		Pfam_domain:PF04902,hmmpanther:PTHR12623,hmmpanther:PTHR12623:SF9		H/N		A	neutral	1827/4358		getma.org/?cm=msa&ty=f&p=NAB1_HUMAN&rb=322&re=487&var=H456N	tolerated_low_confidence(0.19)	C9JL92_HUMAN,C9JJ42_HUMAN,C9JID4_HUMAN,C9JFF6_HUMAN,C9J3V0_HUMAN			YES	NAB1,missense_variant,p.His456Asn,ENST00000337386,NM_005966.3;NAB1,missense_variant,p.His455Asn,ENST00000409641,;NAB1,missense_variant,p.His456Asn,ENST00000409581,;NAB1,missense_variant,p.His427Asn,ENST00000357215,;NAB1,missense_variant,p.His196Asn,ENST00000545490,;NAB1,missense_variant,p.His209Asn,ENST00000434473,;AC006460.2,intron_variant,,ENST00000421437,;AC006460.2,intron_variant,,ENST00000411949,;AC006460.2,intron_variant,,ENST00000428032,;NAB1,downstream_gene_variant,,ENST00000484774,;							MODERATE	1366/1464	H456N	NAB1_HUMAN			Transcript		benign(0.049)	.	ENSP00000336894		CCDS2307.1			1	
GDF11	0	LGGM	GRCh37	12	56142537	56142537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	3	.	.	ENST00000257868.5:c.613G>T	p.Gly205Trp	p.G205W	ENST00000257868	NM_005811.3	205	Ggg/Tgg	0	1	1	UPI000004C158	0	NA	ENST00000257868		ENSG00000135414	4216		28	0		HGNC	p.G205W		GDF11		SNV							ENST00000257868	protein_coding	getma.org/?cm=var&var=hg19,12,56142537,G,T&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF140		G/W		T	neutral	650/3731		getma.org/?cm=msa&ty=f&p=GDF11_HUMAN&rb=42&re=297&var=G205W	deleterious(0.01)				YES	GDF11,missense_variant,p.Gly205Trp,ENST00000257868,NM_005811.3;GDF11,missense_variant,p.Gly178Trp,ENST00000546799,;SARNP,downstream_gene_variant,,ENST00000444631,;SARNP,downstream_gene_variant,,ENST00000546604,;SARNP,downstream_gene_variant,,ENST00000552884,;							MODERATE	613/1224	G205W	GDF11_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000257868		CCDS8891.1			1	
PDXDC1	0	LGGM	GRCh37	16	15091669	15091669	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	32	3	.	.	ENST00000396410.4:c.81G>T	p.Leu27=	p.L27=	ENST00000396410	NM_015027.2	27	ctG/ctT	0	1	1	UPI000004A864	0		ENST00000396410		ENSG00000179889	28995		35			HGNC	p.L27L		PDXDC1		SNV							ENST00000450288	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73		L		T		178/3884				J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN			YES	PDXDC1,synonymous_variant,p.=,ENST00000396410,NM_015027.2,NM_001285447.1;PDXDC1,synonymous_variant,p.=,ENST00000569715,NM_001285444.1;PDXDC1,synonymous_variant,p.=,ENST00000563679,;PDXDC1,synonymous_variant,p.=,ENST00000325823,;PDXDC1,synonymous_variant,p.=,ENST00000450288,NM_001285445.1;PDXDC1,synonymous_variant,p.=,ENST00000447912,NM_001285448.1;PDXDC1,synonymous_variant,p.=,ENST00000455313,NM_001285450.1;PDXDC1,synonymous_variant,p.=,ENST00000535621,NM_001285449.1;PDXDC1,synonymous_variant,p.=,ENST00000567306,;PDXDC1,synonymous_variant,p.=,ENST00000563522,;PDXDC1,synonymous_variant,p.=,ENST00000563667,;PDXDC1,synonymous_variant,p.=,ENST00000566426,;PDXDC1,synonymous_variant,p.=,ENST00000562119,;PDXDC1,synonymous_variant,p.=,ENST00000565362,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;							LOW	81/2367		PDXD1_HUMAN			Transcript			.	ENSP00000379691		CCDS32393.1			1	
EVX1	0	LGGM	GRCh37	7	27284690	27284690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	27	3	.	.	ENST00000496902.4:c.451G>T	p.Gly151Cys	p.G151C	ENST00000496902		151	Ggc/Tgc	0	1	1	UPI000012A2AD	0	NA	ENST00000496902		ENSG00000106038	3506		30	0.895		HGNC	p.G151C		EVX1		SNV							ENST00000496902	protein_coding	getma.org/?cm=var&var=hg19,7,27284690,G,T&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF246		G/C		T	low	937/2712		getma.org/?cm=msa&ty=f&p=EVX1_HUMAN&rb=1&re=160&var=G151C	deleterious(0.04)	B4DQJ0_HUMAN			YES	EVX1,missense_variant,p.Gly151Cys,ENST00000496902,;EVX1,synonymous_variant,p.=,ENST00000580535,;EVX1,synonymous_variant,p.=,ENST00000222761,NM_001989.3;EVX1,5_prime_UTR_variant,,ENST00000535619,;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1-AS,upstream_gene_variant,,ENST00000519218,;EVX1,upstream_gene_variant,,ENST00000518886,;							MODERATE	451/1224	G151C	EVX1_HUMAN			Transcript		benign(0.002)	.	ENSP00000419266		CCDS5413.1			1	
SLC1A6	0	LGGM	GRCh37	19	15082580	15082580	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	34	3	.	.	ENST00000221742.3:c.312G>T	p.Val104=	p.V104=	ENST00000221742	NM_005071.2	104	gtG/gtT	0	1	1	UPI0000129B1A	0		ENST00000221742		ENSG00000105143	10944		37			HGNC	p.V109F		SLC1A6		SNV							ENST00000430939	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29,PROSITE_patterns:PS00713,Pfam_domain:PF00375,Gene3D:2nwlC00,Superfamily_domains:0053221,Prints_domain:PR00173		V		A		320/1719				Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN			YES	SLC1A6,missense_variant,p.Val109Phe,ENST00000430939,;SLC1A6,missense_variant,p.Val109Phe,ENST00000599636,;SLC1A6,synonymous_variant,p.=,ENST00000598504,NM_001272087.1;SLC1A6,synonymous_variant,p.=,ENST00000544886,NM_001272088.1;SLC1A6,synonymous_variant,p.=,ENST00000600144,;SLC1A6,synonymous_variant,p.=,ENST00000221742,NM_005071.2;SLC1A6,synonymous_variant,p.=,ENST00000597262,;SLC1A6,synonymous_variant,p.=,ENST00000595863,;SLC1A6,downstream_gene_variant,,ENST00000601761,;SLC1A6,downstream_gene_variant,,ENST00000594383,;SLC1A6,non_coding_transcript_exon_variant,,ENST00000596697,;							LOW	312/1695		EAA4_HUMAN			Transcript			.	ENSP00000221742		CCDS12321.1			1	
XKR8	0	LGGM	GRCh37	1	28293575	28293575	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	34	3	.	.	ENST00000373884.5:c.1052C>A	p.Pro351His	p.P351H	ENST00000373884	NM_018053.2	351	cCt/cAt	0	1	1	UPI000006F5DC	0	NA	ENST00000373884		ENSG00000158156	25508		37	1.995		HGNC	p.P351H		XKR8		SNV							ENST00000373884	protein_coding	getma.org/?cm=var&var=hg19,1,28293575,C,A&fts=all		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF8		P/H		A	medium	1660/2692		getma.org/?cm=msa&ty=f&p=XKR8_HUMAN&rb=345&re=395&var=P351H	tolerated(0.15)	Q9NW55_HUMAN			YES	XKR8,missense_variant,p.Pro351His,ENST00000373884,NM_018053.2;EYA3,downstream_gene_variant,,ENST00000373871,;EYA3,downstream_gene_variant,,ENST00000436342,NM_001990.3;XKR8,downstream_gene_variant,,ENST00000481387,;							MODERATE	1052/1188	P351H	XKR8_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000362991		CCDS315.1			1	
FBXL13	0	LGGM	GRCh37	7	102669063	102669063	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	43	3	.	.	ENST00000313221.4:c.201G>T	p.Gln67His	p.Q67H	ENST00000313221	NM_145032.3	67	caG/caT	0	1	1	UPI000020F830	0	NA	ENST00000313221		ENSG00000161040	21658		46	1.04		HGNC	p.Q67H		FBXL13		SNV							ENST00000379308	protein_coding	getma.org/?cm=var&var=hg19,7,102669063,C,A&fts=all				Q/H		A	low	628/2744		getma.org/?cm=msa&ty=f&p=FXL13_HUMAN&rb=1&re=200&var=Q67H	tolerated(0.3)				YES	FBXL13,missense_variant,p.Gln67His,ENST00000393772,NM_001287150.1;FBXL13,missense_variant,p.Gln67His,ENST00000379308,;FBXL13,missense_variant,p.Gln67His,ENST00000313221,NM_145032.3;FBXL13,missense_variant,p.Gln67His,ENST00000436908,;FBXL13,missense_variant,p.Gln67His,ENST00000379305,;FBXL13,missense_variant,p.Gln67His,ENST00000455112,NM_001111038.1;FBXL13,missense_variant,p.Gln67His,ENST00000379306,;FBXL13,missense_variant,p.Gln67His,ENST00000456695,;FBXL13,missense_variant,p.Gln157His,ENST00000440067,;RP11-645N11.3,upstream_gene_variant,,ENST00000447336,;FBXL13,intron_variant,,ENST00000471074,;FBXL13,missense_variant,p.Gln157His,ENST00000448002,;							MODERATE	201/2208	Q67H	FXL13_HUMAN			Transcript		benign(0.008)	.	ENSP00000321927		CCDS5726.1			1	
GPR55	0	LGGM	GRCh37	2	231775281	231775281	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	3	.	.	ENST00000392040.1:c.397C>A	p.Arg133=	p.R133=	ENST00000392040	NM_005683.3	133	Cgg/Agg	0	1		UPI000006D64F	0		ENST00000392039		ENSG00000135898	4511		28			HGNC	p.R133R		GPR55		SNV							ENST00000444078	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF8,hmmpanther:PTHR24232,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R		T		823/1523				C9J1P7_HUMAN,A8K858_HUMAN				GPR55,synonymous_variant,p.=,ENST00000392040,NM_005683.3;GPR55,synonymous_variant,p.=,ENST00000392039,;GPR55,synonymous_variant,p.=,ENST00000438398,;AC012507.4,downstream_gene_variant,,ENST00000454890,;GPR55,synonymous_variant,p.=,ENST00000444078,;							LOW	397/960		GPR55_HUMAN			Transcript			.	ENSP00000375893		CCDS2480.1			1	
TTC27	0	LGGM	GRCh37	2	32903946	32903946	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	3	.	.	ENST00000317907.4:c.1076C>A	p.Pro359Gln	p.P359Q	ENST00000317907	NM_017735.4	359	cCa/cAa	0	1	1	UPI0000208226	0	NA	ENST00000317907		ENSG00000018699	25986		40	2.98		HGNC	p.P359Q		TTC27		SNV							ENST00000317907	protein_coding	getma.org/?cm=var&var=hg19,2,32903946,C,A&fts=all		hmmpanther:PTHR16193		P/Q		A	medium	1307/2876		getma.org/?cm=msa&ty=f&p=TTC27_HUMAN&rb=1&re=439&var=P359Q	deleterious(0)	C9JVS4_HUMAN,B4DRC7_HUMAN			YES	TTC27,start_lost,p.Pro1?,ENST00000438654,;TTC27,missense_variant,p.Pro359Gln,ENST00000317907,NM_017735.4,NM_001193509.1;TTC27,missense_variant,p.Gln38Lys,ENST00000454690,;							MODERATE	1076/2532	P359Q	TTC27_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000313953		CCDS33176.1			1	
IFT80	0	LGGM	GRCh37	3	159995100	159995100	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	45	3	.	.	ENST00000326448.7:c.2093G>T	p.Trp698Leu	p.W698L	ENST00000326448	NM_020800.2	698	tGg/tTg	0	1	1	UPI0000160F16	0	NA	ENST00000326448		ENSG00000068885	29262		48	3.105		HGNC	p.W869L		IFT80		SNV			1				ENST00000483754	protein_coding	getma.org/?cm=var&var=hg19,3,159995100,C,A&fts=all		hmmpanther:PTHR24098:SF8,hmmpanther:PTHR24098		W/L		A	medium	2526/4306		getma.org/?cm=msa&ty=f&p=IFT80_HUMAN&rb=657&re=777&var=W698L	deleterious(0)	C9JUJ1_HUMAN,C9JUI1_HUMAN,C9JSB1_HUMAN,C9J6I5_HUMAN,C9J6G8_HUMAN,C9J627_HUMAN,C9IZR2_HUMAN			YES	IFT80,missense_variant,p.Trp698Leu,ENST00000326448,NM_020800.2;IFT80,missense_variant,p.Trp561Leu,ENST00000483465,NM_001190242.1;IFT80,missense_variant,p.Trp561Leu,ENST00000496589,NM_001190241.1;IFT80,non_coding_transcript_exon_variant,,ENST00000463240,;RP11-432B6.3,missense_variant,p.Trp869Leu,ENST00000483754,;IFT80,non_coding_transcript_exon_variant,,ENST00000487943,;							MODERATE	2093/2334	W698L	IFT80_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000312778		CCDS3188.1			1	
VCAN	0	LGGM	GRCh37	5	82837047	82837047	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	36	3	.	.	ENST00000265077.3:c.8225G>A	p.Gly2742Asp	p.G2742D	ENST00000265077	NM_004385.4	2742	gGc/gAc	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		39	2.175		HGNC	p.G1755D		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82837047,G,A&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		G/D		A	medium	8790/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2617&re=2816&var=G2742D	tolerated(0.05)				YES	VCAN,missense_variant,p.Gly2742Asp,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Gly1755Asp,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	8225/10191	G2742D	CSPG2_HUMAN			Transcript		benign(0.32)	.	ENSP00000265077		CCDS4060.1			1	
SNAP47	0	LGGM	GRCh37	1	227935427	227935427	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	15	3	.	.	ENST00000366759.4:c.125C>A	p.Thr42Asn	p.T42N	ENST00000366759	NM_053052.3	42	aCc/aAc	0	1		UPI0001A336B9	0	NA	ENST00000315781		ENSG00000143740	30669		18	0		HGNC	p.T42N		SNAP47		SNV							ENST00000315781	protein_coding	getma.org/?cm=var&var=hg19,1,227935427,C,A&fts=all				T/N		A	neutral	539/1755		getma.org/?cm=msa&ty=f&p=SNP47_HUMAN&rb=1&re=45&var=T42N	tolerated_low_confidence(0.16)					SNAP47,missense_variant,p.Thr34Asn,ENST00000426344,;SNAP47,missense_variant,p.Thr42Asn,ENST00000366759,NM_053052.3;SNAP47,missense_variant,p.Thr42Asn,ENST00000315781,;SNAP47,intron_variant,,ENST00000418653,;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000606873,;SNAP47-AS1,upstream_gene_variant,,ENST00000413347,;SNAP47,non_coding_transcript_exon_variant,,ENST00000475930,;SNAP47,non_coding_transcript_exon_variant,,ENST00000470038,;SNAP47,intron_variant,,ENST00000491439,;SNAP47,upstream_gene_variant,,ENST00000478768,;							MODERATE	125/1341	T42N	SNP47_HUMAN			Transcript		benign(0.008)	.	ENSP00000314157					1	
C1orf50	0	LGGM	GRCh37	1	43241048	43241048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	27	3	.	.	ENST00000372525.5:c.583C>A	p.Gln195Lys	p.Q195K	ENST00000372525	NM_024097.3	195	Cag/Aag	0	1	1	UPI000013E32F	0	NA	ENST00000372525		ENSG00000164008	28795		30	1.04		HGNC	p.Q195K		C1orf50		SNV							ENST00000372525	protein_coding	getma.org/?cm=var&var=hg19,1,43241048,C,A&fts=all		hmmpanther:PTHR14553		Q/K		A	low	626/996		getma.org/?cm=msa&ty=f&p=CA050_HUMAN&rb=155&re=199&var=Q195K	tolerated_low_confidence(0.08)				YES	C1orf50,missense_variant,p.Gln195Lys,ENST00000372525,NM_024097.3;C1orf50,5_prime_UTR_variant,,ENST00000536543,;RP5-994D16.9,downstream_gene_variant,,ENST00000447572,;C1orf50,non_coding_transcript_exon_variant,,ENST00000468913,;C1orf50,downstream_gene_variant,,ENST00000494155,;C1orf50,3_prime_UTR_variant,,ENST00000603943,;C1orf50,3_prime_UTR_variant,,ENST00000464081,;							MODERATE	583/600	Q195K	CA050_HUMAN			Transcript		benign(0.033)	.	ENSP00000361603		CCDS473.1			1	
ZP3	0	LGGM	GRCh37	7	76063409	76063409	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	27	3	.	.	ENST00000394857.3:c.768C>A	p.Pro256=	p.P256=	ENST00000394857	NM_001110354.1	256	ccC/ccA	0	1	1	UPI000013CF77	0		ENST00000394857		ENSG00000188372	13189		30			HGNC	p.P256P		ZP3		SNV							ENST00000394857	protein_coding			Pfam_domain:PF00100,PROSITE_profiles:PS51034,hmmpanther:PTHR11576,hmmpanther:PTHR11576:SF2,SMART_domains:SM00241		P		A		826/1348				Q2XN66_HUMAN,E9PFI9_HUMAN			YES	ZP3,synonymous_variant,p.=,ENST00000416245,;ZP3,synonymous_variant,p.=,ENST00000336517,NM_007155.5;ZP3,synonymous_variant,p.=,ENST00000394857,NM_001110354.1;ZP3,synonymous_variant,p.=,ENST00000394860,;ZP3,non_coding_transcript_exon_variant,,ENST00000479793,;ZP3,non_coding_transcript_exon_variant,,ENST00000466960,;							LOW	768/1275		ZP3_HUMAN			Transcript			.	ENSP00000378326		CCDS47618.1			1	
DCLRE1A	0	LGGM	GRCh37	10	115596857	115596857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	45	3	.	.	ENST00000361384.2:c.2926G>T	p.Val976Phe	p.V976F	ENST00000361384	NM_014881.4	976	Gtt/Ttt	0	1	1	UPI000006EFFE	0	NA	ENST00000361384		ENSG00000198924	17660		48	0.445		HGNC	p.V976F	rs761366836	DCLRE1A		SNV							ENST00000361384	protein_coding	getma.org/?cm=var&var=hg19,10,115596857,C,A&fts=all		hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6,Pfam_domain:PF07522,Superfamily_domains:SSF56281		V/F		A	neutral	3844/4464	6.01E-05	getma.org/?cm=msa&ty=f&p=DCR1A_HUMAN&rb=914&re=1020&var=V976F	deleterious(0)				YES	DCLRE1A,missense_variant,p.Val976Phe,ENST00000361384,NM_014881.4;DCLRE1A,missense_variant,p.Val976Phe,ENST00000369305,NM_001271816.1;							MODERATE	2926/3123	V976F	DCR1A_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000355185	3.29E-05	CCDS7584.1			1	
ADPRHL2	0	LGGM	GRCh37	1	36556935	36556935	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	12	3	.	.	ENST00000373178.4:c.302C>A	p.Ala101Asp	p.A101D	ENST00000373178	NM_017825.2	101	gCt/gAt	0	1	1	UPI0000039EBB	0	getma.org/pdb.php?prot=ARHL2_HUMAN&from=25&to=339&var=A101D	ENST00000373178		ENSG00000116863	21304		15	3.41		HGNC	p.A101D		ADPRHL2		SNV							ENST00000373178	protein_coding	getma.org/?cm=var&var=hg19,1,36556935,C,A&fts=all		hmmpanther:PTHR16222,hmmpanther:PTHR16222:SF12,Pfam_domain:PF03747,Superfamily_domains:0043888		A/D		A	medium	332/1668		getma.org/?cm=msa&ty=f&p=ARHL2_HUMAN&rb=25&re=339&var=A101D	deleterious(0)	B7ZAN4_HUMAN,B4DHV5_HUMAN			YES	ADPRHL2,missense_variant,p.Ala101Asp,ENST00000373178,NM_017825.2;COL8A2,downstream_gene_variant,,ENST00000397799,;COL8A2,downstream_gene_variant,,ENST00000303143,NM_005202.2;TEKT2,downstream_gene_variant,,ENST00000207457,NM_014466.2;TEKT2,downstream_gene_variant,,ENST00000473120,;TEKT2,downstream_gene_variant,,ENST00000469024,;							MODERATE	302/1092	A101D	ARHL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362273		CCDS402.1			1	
CYP2B6	0	LGGM	GRCh37	19	41509954	41509954	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	3	.	.	ENST00000324071.4:c.220C>A	p.Pro74Thr	p.P74T	ENST00000324071	NM_000767.4	74	Ccc/Acc	0	1	1	UPI000012823F	0	getma.org/pdb.php?prot=CP2B6_HUMAN&from=31&to=488&var=P74T	ENST00000324071		ENSG00000197408	2615		25	2.525		HGNC	p.P34T		CYP2B6		SNV			1				ENST00000330446	protein_coding	getma.org/?cm=var&var=hg19,19,41509954,C,A&fts=all		hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463		P/T		A	medium	227/3054		getma.org/?cm=msa&ty=f&p=CP2B6_HUMAN&rb=31&re=488&var=P74T	deleterious(0.02)	Q9UNX8_HUMAN,F2X1B0_HUMAN			YES	CYP2B6,missense_variant,p.Pro74Thr,ENST00000324071,NM_000767.4;CYP2B6,missense_variant,p.Pro34Thr,ENST00000330446,;CYP2B6,5_prime_UTR_variant,,ENST00000593831,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000598834,;CYP2B6,upstream_gene_variant,,ENST00000594187,;							MODERATE	220/1476	P74T	CP2B6_HUMAN			Transcript		benign(0.326)	.	ENSP00000324648		CCDS12570.1			1	
TMED2	0	LGGM	GRCh37	12	124071450	124071450	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	38	3	.	.	ENST00000262225.3:c.337G>T	p.Gly113Trp	p.G113W	ENST00000262225	NM_006815.3	113	Ggg/Tgg	0	1	1	UPI0000001296	0	NA	ENST00000262225		ENSG00000086598	16996		41	3.77		HGNC	p.G28W		TMED2		SNV							ENST00000509052	protein_coding	getma.org/?cm=var&var=hg19,12,124071450,G,T&fts=all		hmmpanther:PTHR22811:SF55,hmmpanther:PTHR22811,Pfam_domain:PF01105,Superfamily_domains:0041713		G/W		T	high	443/2552		getma.org/?cm=msa&ty=f&p=TMED2_HUMAN&rb=20&re=196&var=G113W	deleterious(0)	Q6FHT8_HUMAN,F5GX39_HUMAN			YES	TMED2,missense_variant,p.Gly113Trp,ENST00000262225,NM_006815.3;TMED2,missense_variant,p.Gly28Trp,ENST00000509052,;TMED2,missense_variant,p.Gly113Trp,ENST00000438031,;RP11-486O12.2,upstream_gene_variant,,ENST00000498967,;TMED2,non_coding_transcript_exon_variant,,ENST00000543425,;TMED2,non_coding_transcript_exon_variant,,ENST00000544188,;							MODERATE	337/606	G113W	TMED2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000262225		CCDS9250.1			1	
TRPC3	0	LGGM	GRCh37	4	122836064	122836064	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	23	3	.	.	ENST00000379645.3:c.1212G>C	p.Leu404Phe	p.L404F	ENST00000379645	NM_001130698.1	404	ttG/ttC	0	1	1	UPI00004C6F61	0	NA	ENST00000379645		ENSG00000138741	12335		26	2.47		HGNC	p.L404F		TRPC3		SNV							ENST00000379645	protein_coding	getma.org/?cm=var&var=hg19,4,122836064,C,G&fts=all		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870		L/F		G	medium	1286/3548		getma.org/?cm=msa&ty=f&p=TRPC3_HUMAN&rb=245&re=426&var=L319F	tolerated(0.05)	Q4W5P7_HUMAN,D6R902_HUMAN			YES	TRPC3,missense_variant,p.Leu331Phe,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Leu404Phe,ENST00000379645,NM_001130698.1;TRPC3,intron_variant,,ENST00000513531,;TRPC3,3_prime_UTR_variant,,ENST00000506449,;							MODERATE	1212/2766	L319F	TRPC3_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000368966		CCDS47130.1			1	
WFDC10A	0	LGGM	GRCh37	20	44259589	44259589	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	38	3	.	.	ENST00000372643.3:c.172C>A	p.Arg58=	p.R58=	ENST00000372643	NM_080753.2	58	Cga/Aga	0	1	1	UPI0000043C51	0		ENST00000372643		ENSG00000180305	16139		41			HGNC	p.R58R		WFDC10A		SNV							ENST00000372643	protein_coding			PROSITE_profiles:PS51390,hmmpanther:PTHR19441:SF21,hmmpanther:PTHR19441,Pfam_domain:PF00095,Gene3D:4.10.75.10,Superfamily_domains:SSF57256		R		A		460/706							YES	WFDC10A,synonymous_variant,p.=,ENST00000372643,NM_080753.2;WFDC9,intron_variant,,ENST00000326000,NM_147198.3;							LOW	172/240		WF10A_HUMAN			Transcript			.	ENSP00000361726		CCDS13363.1			1	
OR2D3	0	LGGM	GRCh37	11	6942781	6942781	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	30	3	.	.	ENST00000317834.3:c.549C>A	p.Pro183=	p.P183=	ENST00000317834	NM_001004684.1	183	ccC/ccA	0	1	1	UPI0000041C7D	0		ENST00000317834		ENSG00000178358	15146		33			HGNC	p.P183P		OR2D3		SNV							ENST00000317834	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF136,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		P		A		577/1060							YES	OR2D3,synonymous_variant,p.=,ENST00000317834,NM_001004684.1;ZNF215,upstream_gene_variant,,ENST00000278319,NM_013250.2;ZNF215,upstream_gene_variant,,ENST00000414517,;ZNF215,upstream_gene_variant,,ENST00000527171,;ZNF215,upstream_gene_variant,,ENST00000529755,;							LOW	549/993		OR2D3_HUMAN			Transcript			.	ENSP00000320560		CCDS31417.1			1	
NID2	0	LGGM	GRCh37	14	52509564	52509564	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	30	3	.	.	ENST00000216286.5:c.1515C>A	p.Ala505=	p.A505=	ENST00000216286	NM_007361.3	505	gcC/gcA	0	1	1	UPI000013C6E1	0		ENST00000216286		ENSG00000087303	13389		33			HGNC	p.A452A		NID2		SNV							ENST00000541773	protein_coding			PROSITE_patterns:PS00010,Gene3D:2.40.155.10,SMART_domains:SM00181,Superfamily_domains:SSF57184		A		T		1515/4811							YES	NID2,synonymous_variant,p.=,ENST00000216286,NM_007361.3;NID2,synonymous_variant,p.=,ENST00000541773,;NID2,upstream_gene_variant,,ENST00000556572,;NID2,upstream_gene_variant,,ENST00000554284,;							LOW	1515/4128		NID2_HUMAN			Transcript			.	ENSP00000216286		CCDS9706.1			1	
SHROOM1	0	LGGM	GRCh37	5	132160359	132160359	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	31	3	.	.	ENST00000378679.3:c.1189G>T	p.Val397Phe	p.V397F	ENST00000378679	NM_001172700.1	397	Gtc/Ttc	0	1	1	UPI000036FD4D	0	NA	ENST00000378679		ENSG00000164403	24084		34	0.695		HGNC	p.V397F		SHROOM1		SNV							ENST00000319854	protein_coding	getma.org/?cm=var&var=hg19,5,132160359,C,A&fts=all		hmmpanther:PTHR15012		V/F		A	neutral	1994/4019		getma.org/?cm=msa&ty=f&p=SHRM1_HUMAN&rb=255&re=454&var=V397F	tolerated(0.21)	C9JXU1_HUMAN			YES	SHROOM1,missense_variant,p.Val397Phe,ENST00000378679,NM_001172700.1;SHROOM1,missense_variant,p.Val397Phe,ENST00000319854,NM_133456.2;SHROOM1,intron_variant,,ENST00000378676,;SHROOM1,downstream_gene_variant,,ENST00000440118,;SHROOM1,upstream_gene_variant,,ENST00000488072,;SHROOM1,upstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;							MODERATE	1189/2559	V397F	SHRM1_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000367950		CCDS54902.1			1	
TOP3B	0	LGGM	GRCh37	22	22324725	22324725	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	6	3	.	.	ENST00000398793.2:c.438C>T	p.Thr146=	p.T146=	ENST00000398793	NM_003935.3	146	acC/acT	0	1		UPI00001371A1	0		ENST00000357179		ENSG00000100038	11993	8.78E-05	9			HGNC	p.T146T	rs759408125	TOP3B		SNV							ENST00000357179	protein_coding			Gene3D:3.40.50.140,Pfam_domain:PF01751,PROSITE_profiles:PS50880,hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF20,SMART_domains:SM00436,Superfamily_domains:SSF56712		T		A		623/2863				C9JTQ7_HUMAN,C9JT00_HUMAN,C9JKE2_HUMAN,C9JHR0_HUMAN,C9JEQ1_HUMAN,C9JEI7_HUMAN,C9J9X4_HUMAN				TOP3B,synonymous_variant,p.=,ENST00000398793,NM_003935.3;TOP3B,synonymous_variant,p.=,ENST00000357179,NM_001282113.1,NM_001282112.1;TOP3B,synonymous_variant,p.=,ENST00000424393,;TOP3B,intron_variant,,ENST00000413067,;TOP3B,upstream_gene_variant,,ENST00000457270,;TOP3B,downstream_gene_variant,,ENST00000430142,;TOP3B,downstream_gene_variant,,ENST00000437103,;TOP3B,downstream_gene_variant,,ENST00000456075,;TOP3B,downstream_gene_variant,,ENST00000437929,;TOP3B,downstream_gene_variant,,ENST00000449704,;TOP3B,downstream_gene_variant,,ENST00000442653,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,non_coding_transcript_exon_variant,,ENST00000487485,;TOP3B,upstream_gene_variant,,ENST00000436282,;TOP3B,downstream_gene_variant,,ENST00000489581,;							LOW	438/2589		TOP3B_HUMAN			Transcript			.	ENSP00000349705	8.24E-06	CCDS13797.1			1	
CCDC180	0	LGGM	GRCh37	9	100122356	100122356	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	61	24	.	.	ENST00000375202.2:c.3588G>A	p.Arg1196=	p.R1196=	ENST00000375202		1196	agG/agA	0	1	1	UPI00016277C6	0		ENST00000375202		ENSG00000197816	29303		85			HGNC	p.R1167R		CCDC180		SNV							ENST00000357054	protein_coding			hmmpanther:PTHR21444,hmmpanther:PTHR21444:SF14		R		A		4940/6851				B7ZMG3_HUMAN			YES	CCDC180,synonymous_variant,p.=,ENST00000375202,;CCDC180,synonymous_variant,p.=,ENST00000357054,;CCDC180,synonymous_variant,p.=,ENST00000529487,NM_020893.2;CCDC180,3_prime_UTR_variant,,ENST00000395220,;MIR1302-8,downstream_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,non_coding_transcript_exon_variant,,ENST00000532526,;CCDC180,downstream_gene_variant,,ENST00000471314,;CCDC180,upstream_gene_variant,,ENST00000527182,;							LOW	3588/5106		CC180_HUMAN			Transcript			.	ENSP00000364348		CCDS35077.2			1	
NPEPL1	0	LGGM	GRCh37	20	57274251	57274251	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	1	4	.	.	ENST00000356091.6:c.598-2A>G		p.X200_splice	ENST00000356091	NM_024663.3			0	1	1	UPI000036789E	0		ENST00000356091		ENSG00000215440	16244		5			HGNC	-		NPEPL1		SNV							ENST00000525967	protein_coding							G		-/2378				H0UI76_HUMAN			YES	NPEPL1,splice_acceptor_variant,,ENST00000356091,NM_024663.3;NPEPL1,splice_acceptor_variant,,ENST00000525967,NM_001204872.1;NPEPL1,splice_acceptor_variant,,ENST00000525817,NM_001204873.1;NPEPL1,splice_acceptor_variant,,ENST00000529976,;NPEPL1,splice_acceptor_variant,,ENST00000527587,;STX16-NPEPL1,splice_acceptor_variant,,ENST00000530122,;NPEPL1,splice_acceptor_variant,,ENST00000533788,;							HIGH	598/1572		PEPL1_HUMAN			Transcript			.	ENSP00000348395		CCDS46621.1			1	
CSMD2	0	LGGM	GRCh37	1	34204821	34204821	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	28	4	.	.	ENST00000241312.4:c.2168G>T	p.Gly723Val	p.G723V	ENST00000241312		723	gGg/gTg	0	1	1	UPI00004561AB	0	getma.org/pdb.php?prot=CSMD2_HUMAN&from=691&to=748&var=G723V	ENST00000241312		ENSG00000121904	19290		32	-1.78		HGNC	p.G763V		CSMD2		SNV							ENST00000373381	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,34204821,C,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535		G/V		A	neutral	2197/13108		getma.org/?cm=msa&ty=f&p=CSMD2_HUMAN&rb=691&re=748&var=G723V	deleterious(0.01)				YES	CSMD2,missense_variant,p.Gly763Val,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,missense_variant,p.Gly723Val,ENST00000241312,;							MODERATE	2168/10464	G723V	CSMD2_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000241312		CCDS380.1			1	
ZNF44	0	LGGM	GRCh37	19	12359123	12359123	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	74	4	.	.	ENST00000426973.1:c.592G>T	p.Gly198Ter	p.G198*	ENST00000426973		198	Gga/Tga	0	1	1	UPI0001662ABF	0		ENST00000426973		ENSG00000197857	13110		78			HGNC	p.G198X		ZNF44		SNV							ENST00000426973	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24379,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/*		A		592/1623				I6L4V1_HUMAN				ZNF44,stop_gained,p.Gly198Ter,ENST00000426973,;ZNF44,3_prime_UTR_variant,,ENST00000393337,;ZNF44,intron_variant,,ENST00000600003,;ZNF44,downstream_gene_variant,,ENST00000397742,;							HIGH	592/1623					Transcript			.	ENSP00000395745					1	
RPL32	0	LGGM	GRCh37	3	12881730	12881730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	78	4	.	.	ENST00000429711.2:c.7G>T	p.Ala3Ser	p.A3S	ENST00000429711	NM_000994.3	3	Gcc/Tcc	0	1		UPI0000001684	0	getma.org/pdb.php?prot=RL32_HUMAN&from=1&to=15&var=A3S	ENST00000396953		ENSG00000144713	10336		82	1.185		HGNC	p.A3S		RPL32		SNV							ENST00000457131	protein_coding	getma.org/?cm=var&var=hg19,3,12881730,C,A&fts=all		Superfamily_domains:0037550		A/S		A	low	1299/1734		getma.org/?cm=msa&ty=f&p=RL32_HUMAN&rb=1&re=45&var=A3S	tolerated(0.08)	D3YTI8_HUMAN,D3YTB1_HUMAN				RPL32,missense_variant,p.Ala3Ser,ENST00000429711,NM_000994.3;RPL32,missense_variant,p.Ala3Ser,ENST00000396957,NM_001007073.1,NM_001007074.1;RPL32,missense_variant,p.Ala3Ser,ENST00000396953,;RPL32,missense_variant,p.Ala3Ser,ENST00000435983,;RPL32,missense_variant,p.Ala3Ser,ENST00000273223,;RPL32,missense_variant,p.Ala3Ser,ENST00000457131,;RPL32,missense_variant,p.Ala3Ser,ENST00000434963,;CAND2,intron_variant,,ENST00000454887,;SNORA7A,downstream_gene_variant,,ENST00000384765,NR_002582.1;RPL32,non_coding_transcript_exon_variant,,ENST00000452606,;							MODERATE	7/408	A3S	RL32_HUMAN			Transcript		benign(0.049)	.	ENSP00000380156		CCDS2614.1			1	
SULF2	0	LGGM	GRCh37	20	46290612	46290612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	79	4	.	.	ENST00000359930.4:c.2399G>T	p.Arg800Met	p.R800M	ENST00000359930	NM_018837.3	800	aGg/aTg	0	1	1	UPI000003FFBA	0	NA	ENST00000359930		ENSG00000196562	20392		83	2.545		HGNC	p.R800M		SULF2		SNV							ENST00000467815	protein_coding	getma.org/?cm=var&var=hg19,20,46290612,C,A&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,PIRSF_domain:PIRSF036665,Superfamily_domains:SSF53649		R/M		A	medium	3251/4915		getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=666&re=865&var=R800M	deleterious(0.01)	Q5BKT1_HUMAN,B1AMP9_HUMAN			YES	SULF2,missense_variant,p.Arg800Met,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Arg800Met,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Arg800Met,ENST00000361612,;SULF2,missense_variant,p.Arg800Met,ENST00000467815,;SULF2,missense_variant,p.Arg155Met,ENST00000495544,;NCOA3,downstream_gene_variant,,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,downstream_gene_variant,,ENST00000341724,;SULF2,non_coding_transcript_exon_variant,,ENST00000433632,;SULF2,upstream_gene_variant,,ENST00000479472,;SULF2,upstream_gene_variant,,ENST00000479970,;							MODERATE	2399/2613	R800M	SULF2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000353007		CCDS13408.1			1	
AQP12B	0	LGGM	GRCh37	2	241621867	241621867	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	27	4	.	.	ENST00000407834.3:c.388C>T	p.Arg130Cys	p.R130C	ENST00000407834	NM_001102467.1	130	Cgc/Tgc	0	1	1	UPI0000F705B9	0	NA	ENST00000407834		ENSG00000185176	6096		31	1.78		HGNC	p.A33V	rs372967359	AQP12B		SNV	A:0.0002						ENST00000452886	protein_coding	getma.org/?cm=var&var=hg19,2,241621867,G,A&fts=all		Gene3D:1.20.1080.10,Pfam_domain:PF00230,PIRSF_domain:PIRSF017529,Prints_domain:PR02025,hmmpanther:PTHR21191,hmmpanther:PTHR21191:SF8,Superfamily_domains:SSF81338		R/C	A:0.0001	A	low	451/1094	1.76E-05	getma.org/?cm=msa&ty=f&p=H7C1C7_HUMAN&rb=1&re=200&var=R103C	deleterious(0.01)				YES	AQP12B,missense_variant,p.Arg130Cys,ENST00000407834,NM_001102467.1;AC011298.1,downstream_gene_variant,,ENST00000599492,;AC011298.2,upstream_gene_variant,,ENST00000407635,;AQP12B,upstream_gene_variant,,ENST00000459806,;AQP12B,missense_variant,p.Ala33Val,ENST00000414322,;AQP12B,missense_variant,p.Ala33Val,ENST00000413999,;AQP12B,missense_variant,p.Ala33Val,ENST00000452886,;							MODERATE	388/924	R103C	AQ12B_HUMAN			Transcript		possibly_damaging(0.59)	.	ENSP00000384894	1.65E-05	CCDS46560.1			1	
CHD1	0	LGGM	GRCh37	5	98229298	98229298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	60	4	.	.	ENST00000284049.3:c.1813G>T	p.Gly605Cys	p.G605C	ENST00000284049	NM_001270.2	605	Ggt/Tgt	0	1	1	UPI000013DD75	0	getma.org/pdb.php?prot=CHD1_HUMAN&from=484&to=765&var=G605C	ENST00000284049		ENSG00000153922	1915		64	1.975		HGNC	p.G605C	rs765761471	CHD1	6.06E-05	SNV							ENST00000284049	protein_coding	getma.org/?cm=var&var=hg19,5,98229298,C,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192		G/C		A	medium	1963/5918		getma.org/?cm=msa&ty=f&p=CHD1_HUMAN&rb=484&re=765&var=G605C	deleterious(0.04)				YES	CHD1,missense_variant,p.Gly605Cys,ENST00000284049,NM_001270.2;RNU6-402P,downstream_gene_variant,,ENST00000410678,;							MODERATE	1813/5133	G605C	CHD1_HUMAN			Transcript		benign(0.32)	.	ENSP00000284049	8.24E-06	CCDS34204.1			1	
TTN	0	LGGM	GRCh37	2	179594481	179594481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	95	4	.	.	ENST00000589042.1:c.18499G>T	p.Gly6167Cys	p.G6167C	ENST00000589042	NM_001267550.1	6167	Ggt/Tgt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=5788&to=5878&var=G5850C	ENST00000591111		ENSG00000155657	12403		99	2.11		HGNC	p.G4923C		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179594481,C,A&fts=all		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		G/C		A	medium	17773/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=5788&re=5878&var=G5850C		C9JQJ2_HUMAN				TTN,missense_variant,p.Gly6167Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gly5850Cys,ENST00000591111,;TTN,missense_variant,p.Gly4923Cys,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,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;							MODERATE	17548/103053	G5850C	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
TEFM	0	LGGM	GRCh37	17	29233190	29233190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	41	4	.	.	ENST00000581216.1:c.27G>T	p.Ala9=	p.A9=	ENST00000581216	NM_024683.3	9	gcG/gcT	0	1	1	UPI00000708D5	0		ENST00000581216		ENSG00000172171	26223		45			HGNC	p.A9A	rs568132821	TEFM		SNV							ENST00000306049	protein_coding		A:0	hmmpanther:PTHR21053:SF1,hmmpanther:PTHR21053		A		A		649/1891					A:0	A:0.001	YES	TEFM,synonymous_variant,p.=,ENST00000580840,;TEFM,synonymous_variant,p.=,ENST00000581216,NM_024683.3;ADAP2,upstream_gene_variant,,ENST00000583688,;TEFM,synonymous_variant,p.=,ENST00000306049,;TEFM,non_coding_transcript_exon_variant,,ENST00000541382,;		A:0.0002					LOW	27/1083		TEFM_HUMAN		A:0	Transcript			.	ENSP00000462963		CCDS42291.1		A:0	1	
ZNF229	0	LGGM	GRCh37	19	44934528	44934528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	58	4	.	.	ENST00000588931.1:c.428G>T	p.Trp143Leu	p.W143L	ENST00000588931	NM_014518.2	143	tGg/tTg	0	1	1	UPI00001D8174	0	NA	ENST00000588931		ENSG00000167383	13022		62	0.46		HGNC	p.W143L		ZNF229		SNV							ENST00000588931	protein_coding	getma.org/?cm=var&var=hg19,19,44934528,C,A&fts=all		hmmpanther:PTHR24377		W/L		A	neutral	862/4510		getma.org/?cm=msa&ty=f&p=ZN229_HUMAN&rb=75&re=274&var=W143L	tolerated(0.65)				YES	ZNF229,missense_variant,p.Trp137Leu,ENST00000291187,NM_001278510.1;ZNF229,missense_variant,p.Trp143Leu,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,;							MODERATE	428/2478	W143L	ZN229_HUMAN			Transcript		benign(0.243)	.	ENSP00000466519		CCDS42574.1			1	
ME3	0	LGGM	GRCh37	11	86270864	86270864	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	63	4	.	.	ENST00000543262.1:c.185G>T	p.Gly62Val	p.G62V	ENST00000543262	NM_001161586.1	62	gGg/gTg	0	1		UPI000013DC4F	0	getma.org/pdb.php?prot=MAON_HUMAN&from=1&to=113&var=G62V	ENST00000393324		ENSG00000151376	6985		67	3.43		HGNC	p.G62V		ME3		SNV							ENST00000524826	protein_coding	getma.org/?cm=var&var=hg19,11,86270864,C,A&fts=all		hmmpanther:PTHR23406:SF20,hmmpanther:PTHR23406,Gene3D:3.40.50.10380,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF53223		G/V		A	medium	439/2240		getma.org/?cm=msa&ty=f&p=MAON_HUMAN&rb=1&re=113&var=G62V	deleterious(0)	E9PQP5_HUMAN,E9PNN2_HUMAN,E9PMB9_HUMAN				ME3,missense_variant,p.Gly62Val,ENST00000543262,NM_001161586.1;ME3,missense_variant,p.Gly62Val,ENST00000393324,NM_001014811.1;ME3,missense_variant,p.Gly62Val,ENST00000359636,NM_006680.2;ME3,missense_variant,p.Gly62Val,ENST00000524826,;ME3,missense_variant,p.Gly62Val,ENST00000530335,;ME3,upstream_gene_variant,,ENST00000323418,;RP11-317J19.1,intron_variant,,ENST00000524610,;ME3,missense_variant,p.Gly62Val,ENST00000526504,;ME3,splice_region_variant,,ENST00000530520,;							MODERATE	185/1815	G62V	MAON_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000376998		CCDS8277.1			1	
PCDHGC3	0	LGGM	GRCh37	5	140856971	140856971	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	50	4	.	.	ENST00000308177.3:c.1288C>A	p.Arg430=	p.R430=	ENST00000308177	NM_002588.2	430	Cga/Aga	0	1	1	UPI000006F34F	0		ENST00000308177		ENSG00000240184	8716		54			HGNC	p.R430R		PCDHGC3		SNV							ENST00000308177	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,SMART_domains:SM00112,Superfamily_domains:SSF49313		R		A		1392/4711				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGC3,synonymous_variant,p.=,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;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;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;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;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,;							LOW	1288/2805		PCDGK_HUMAN			Transcript			.	ENSP00000312070		CCDS4261.1			1	
BEST3	0	LGGM	GRCh37	12	70049050	70049050	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	4	.	.	ENST00000330891.5:c.1644C>A	p.Ser548=	p.S548=	ENST00000330891	NM_032735.2	548	tcC/tcA	0	1	1	UPI000006E397	0		ENST00000330891		ENSG00000127325	17105		37			HGNC	p.S335S		BEST3		SNV							ENST00000488961	protein_coding			hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2		S		T		1871/3532				F8VVZ2_HUMAN			YES	BEST3,synonymous_variant,p.=,ENST00000330891,NM_032735.2;BEST3,synonymous_variant,p.=,ENST00000553096,NM_001282613.1;BEST3,synonymous_variant,p.=,ENST00000488961,NM_152439.2;BEST3,intron_variant,,ENST00000331471,NM_001282614.1;BEST3,intron_variant,,ENST00000547208,;							LOW	1644/2007		BEST3_HUMAN			Transcript			.	ENSP00000332413		CCDS8992.2			1	
ARID1A	0	LGGM	GRCh37	1	27087375	27087375	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	83	4	.	.	ENST00000324856.7:c.1949C>A	p.Pro650His	p.P650H	ENST00000324856	NM_006015.4	650	cCc/cAc	0	1	1	UPI0000167B91	0	NA	ENST00000324856		ENSG00000117713	11110		87	2.175		HGNC	p.P650H		ARID1A		SNV			1				ENST00000324856	protein_coding	getma.org/?cm=var&var=hg19,1,27087375,C,A&fts=all		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12		P/H		A	medium	2320/8577		getma.org/?cm=msa&ty=f&p=ARI1A_HUMAN&rb=590&re=968&var=P650H		Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,missense_variant,p.Pro650His,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Pro650His,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Pro267His,ENST00000374152,;RN7SL501P,upstream_gene_variant,,ENST00000578818,;							MODERATE	1949/6858	P650H	ARI1A_HUMAN			Transcript		unknown(0)	.	ENSP00000320485		CCDS285.1			1	
EGR4	0	LGGM	GRCh37	2	73518638	73518638	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	2	4	.	.	ENST00000545030.1:c.1717C>T	p.Arg573Trp	p.R573W	ENST00000545030	NM_001965.3	573	Cgg/Tgg	0	1	1	UPI0000EE25D4	0	NA	ENST00000545030		ENSG00000135625	3241		6	0		HGNC	p.R470W	rs146903917	EGR4		SNV	T:0						ENST00000436467	protein_coding	getma.org/?cm=var&var=hg19,2,73518638,G,A&fts=all		hmmpanther:PTHR10042,hmmpanther:PTHR10042:SF1		R/W	T:0.0002	A	neutral	1792/2372		getma.org/?cm=msa&ty=f&p=EGR4_HUMAN&rb=450&re=486&var=R470W	deleterious(0)	B7ZKU3_HUMAN			YES	EGR4,missense_variant,p.Arg470Trp,ENST00000436467,;EGR4,missense_variant,p.Arg573Trp,ENST00000545030,NM_001965.3;	0.00012						MODERATE	1717/1770	R470W	EGR4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000445626	8.24E-06	CCDS1925.2			1	
ZNF74	0	LGGM	GRCh37	22	20754961	20754961	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	88	4	.	.	ENST00000400451.2:c.160C>A	p.Gln54Lys	p.Q54K	ENST00000400451	NM_003426.3	54	Cag/Aag	0	1	1	UPI000020710C	0	getma.org/pdb.php?prot=ZNF74_HUMAN&from=43&to=83&var=Q54K	ENST00000400451		ENSG00000185252	13144		92	2.385		HGNC	p.P25Q		ZNF74		SNV							ENST00000403682	protein_coding	getma.org/?cm=var&var=hg19,22,20754961,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF179,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Q/K		A	medium	674/3159		getma.org/?cm=msa&ty=f&p=ZNF74_HUMAN&rb=43&re=83&var=Q54K	tolerated(0.1)				YES	ZNF74,missense_variant,p.Gln54Lys,ENST00000400451,NM_003426.3;ZNF74,missense_variant,p.Pro25Gln,ENST00000403682,NM_001256523.1;ZNF74,missense_variant,p.Pro59Gln,ENST00000357502,NM_001256525.1;ZNF74,missense_variant,p.Gln54Lys,ENST00000356671,NM_001256524.1;ZNF74,missense_variant,p.Gln54Lys,ENST00000405993,;ZNF74,intron_variant,,ENST00000420626,;ZNF74,3_prime_UTR_variant,,ENST00000437275,;ZNF74,non_coding_transcript_exon_variant,,ENST00000476678,;ZNF74,non_coding_transcript_exon_variant,,ENST00000493734,;							MODERATE	160/1935	Q54K	ZNF74_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000383301		CCDS42982.1			1	
SUZ12	0	LGGM	GRCh37	17	30320307	30320307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	4	.	.	ENST00000322652.5:c.1248G>T	p.Lys416Asn	p.K416N	ENST00000322652	NM_015355.2	416	aaG/aaT	0	1	1	UPI000006F727	0	NA	ENST00000322652		ENSG00000178691	17101		41	0.345		HGNC	p.K393N		SUZ12		SNV			1				ENST00000580398	protein_coding	getma.org/?cm=var&var=hg19,17,30320307,G,T&fts=all		hmmpanther:PTHR22597		K/N		T	neutral	1477/4491		getma.org/?cm=msa&ty=f&p=SUZ12_HUMAN&rb=401&re=543&var=K416N	tolerated(0.2)				YES	SUZ12,missense_variant,p.Lys416Asn,ENST00000322652,NM_015355.2;SUZ12,missense_variant,p.Lys393Asn,ENST00000580398,;SUZ12,upstream_gene_variant,,ENST00000578106,;							MODERATE	1248/2220	K416N	SUZ12_HUMAN			Transcript		benign(0.035)	.	ENSP00000316578		CCDS11270.1			1	
PRLHR	0	LGGM	GRCh37	10	120353665	120353665	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	10	4	.	.	ENST00000239032.2:c.1092G>A	p.Met364Ile	p.M364I	ENST00000239032	NM_004248.2	364	atG/atA	0	1	1	UPI000013CA6F	0	NA	ENST00000239032		ENSG00000119973	4464		14	0.755		HGNC	p.M364I		PRLHR		SNV							ENST00000369169	protein_coding	getma.org/?cm=var&var=hg19,10,120353665,C,T&fts=all		Prints_domain:PR01018		M/I		T	neutral	1231/1980		getma.org/?cm=msa&ty=f&p=PRLHR_HUMAN&rb=336&re=370&var=M364I	tolerated(0.39)				YES	PRLHR,missense_variant,p.Met364Ile,ENST00000239032,NM_004248.2;PRLHR,missense_variant,p.Met364Ile,ENST00000369169,;							MODERATE	1092/1113	M364I	PRLHR_HUMAN			Transcript		benign(0)	.	ENSP00000239032		CCDS7606.1			1	
CRK	0	LGGM	GRCh37	17	1340258	1340258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	43	4	.	.	ENST00000300574.2:c.433G>T	p.Gly145Trp	p.G145W	ENST00000300574	NM_016823.3	145	Ggg/Tgg	0	1	1	UPI0000071225	0	getma.org/pdb.php?prot=CRK_HUMAN&from=138&to=184&var=G145W	ENST00000300574		ENSG00000167193	2362		47	3.55		HGNC	p.G145W		CRK		SNV							ENST00000300574	protein_coding	getma.org/?cm=var&var=hg19,17,1340258,C,A&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR19969:SF8,hmmpanther:PTHR19969,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452		G/W		A	high	574/3880		getma.org/?cm=msa&ty=f&p=CRK_HUMAN&rb=138&re=184&var=G145W	deleterious(0)	L7RT18_HUMAN			YES	CRK,missense_variant,p.Gly145Trp,ENST00000300574,NM_016823.3;CRK,missense_variant,p.Gly145Trp,ENST00000398970,NM_005206.4;CRK,intron_variant,,ENST00000574295,;CRK,non_coding_transcript_exon_variant,,ENST00000572145,;							MODERATE	433/915	G145W	CRK_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000300574		CCDS11002.1			1	
ABR	0	LGGM	GRCh37	17	970455	970455	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	1	4	.	.	ENST00000302538.5:c.1044G>C	p.Trp348Cys	p.W348C	ENST00000302538	NM_021962.3	348	tgG/tgC	0	1	1	UPI00001AED3D	0	NA	ENST00000302538		ENSG00000159842	81		5	2.555		HGNC	p.W302C		ABR		SNV							ENST00000574437	protein_coding	getma.org/?cm=var&var=hg19,17,970455,C,G&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		W/C		G	medium	1191/5289		getma.org/?cm=msa&ty=f&p=ABR_HUMAN&rb=302&re=459&var=W348C	deleterious(0)	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN			YES	ABR,missense_variant,p.Trp302Cys,ENST00000544583,NM_001159746.2;ABR,missense_variant,p.Trp348Cys,ENST00000302538,NM_021962.3,NM_001282149.1;ABR,missense_variant,p.Trp302Cys,ENST00000574437,;ABR,missense_variant,p.Trp311Cys,ENST00000291107,NM_001092.4;ABR,missense_variant,p.Trp130Cys,ENST00000536794,;ABR,missense_variant,p.Trp133Cys,ENST00000571945,;ABR,missense_variant,p.Trp15Cys,ENST00000574544,;ABR,non_coding_transcript_exon_variant,,ENST00000576964,;ABR,downstream_gene_variant,,ENST00000573667,;							MODERATE	1044/2580	W348C	ABR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000303909		CCDS10999.1			1	
BDKRB2	0	LGGM	GRCh37	14	96707041	96707041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	86	4	.	.	ENST00000306005.3:c.376G>T	p.Gly126Trp	p.G126W	ENST00000306005	NM_000623.3	126	Ggg/Tgg	0	1		UPI00000503EB	0	getma.org/pdb.php?prot=BKRB2_HUMAN&from=74&to=332&var=G126W	ENST00000554311		ENSG00000168398	1030		90	3.535		HGNC	p.G99W		BDKRB2		SNV							ENST00000542454	protein_coding	getma.org/?cm=var&var=hg19,14,96707041,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF25,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		G/W		T	high	580/4040		getma.org/?cm=msa&ty=f&p=BKRB2_HUMAN&rb=74&re=332&var=G126W	deleterious(0)					BDKRB2,missense_variant,p.Gly99Trp,ENST00000542454,;BDKRB2,missense_variant,p.Gly126Trp,ENST00000306005,NM_000623.3;BDKRB2,missense_variant,p.Gly126Trp,ENST00000554311,;BDKRB2,missense_variant,p.Gly99Trp,ENST00000539359,;RP11-404P21.8,intron_variant,,ENST00000553811,;RP11-404P21.8,upstream_gene_variant,,ENST00000555847,;							MODERATE	376/1176	G126W	BKRB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000450482		CCDS9942.1			1	
TRANK1	0	LGGM	GRCh37	3	36899073	36899073	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	65	4	.	.	ENST00000429976.2:c.2008C>A	p.Gln670Lys	p.Q670K	ENST00000429976		670	Cag/Aag	0	1	1	UPI00017BE82B	0	NA	ENST00000429976		ENSG00000168016	29011		69	1.04		HGNC	p.Q120K		TRANK1		SNV							ENST00000428977	protein_coding	getma.org/?cm=var&var=hg19,3,36899073,G,T&fts=all		hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529		Q/K		T	low	2256/10481		getma.org/?cm=msa&ty=f&p=TRNK1_HUMAN&rb=601&re=800&var=Q670K	tolerated(0.16)	B7WP88_HUMAN			YES	TRANK1,missense_variant,p.Gln670Lys,ENST00000429976,;TRANK1,missense_variant,p.Gln120Lys,ENST00000301807,NM_014831.2;TRANK1,missense_variant,p.Gln120Lys,ENST00000428977,;TRANK1,downstream_gene_variant,,ENST00000513141,;							MODERATE	2008/8778	Q670K	TRNK1_HUMAN			Transcript		benign(0.08)	.	ENSP00000416168		CCDS46789.2			1	
PPP1R26	0	LGGM	GRCh37	9	138379322	138379322	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	12	5	.	.	ENST00000356818.2:c.2966A>T	p.Glu989Val	p.E989V	ENST00000356818	NM_014811.3	989	gAg/gTg	0	1	1	UPI000013DB17	0	NA	ENST00000356818		ENSG00000196422	29089		17	1.39		HGNC	p.E989V		PPP1R26		SNV							ENST00000356818	protein_coding	getma.org/?cm=var&var=hg19,9,138379322,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15724		E/V		T	low	3515/4932		getma.org/?cm=msa&ty=f&p=PPR26_HUMAN&rb=801&re=1000&var=E989V	tolerated(0.06)	Q5T8A6_HUMAN			YES	PPP1R26,missense_variant,p.Glu989Val,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Glu989Val,ENST00000401470,;PPP1R26,missense_variant,p.Glu989Val,ENST00000605286,;PPP1R26,missense_variant,p.Glu989Val,ENST00000604351,;PPP1R26,missense_variant,p.Glu989Val,ENST00000605660,;PPP1R26,intron_variant,,ENST00000602993,;							MODERATE	2966/3630	E989V	PPR26_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000349274		CCDS6988.1			1	
AP2M1	0	LGGM	GRCh37	3	183898890	183898890	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	75	5	.	.	ENST00000292807.5:c.583C>A	p.His195Asn	p.H195N	ENST00000292807	NM_004068.3	195	Cat/Aat	0	1	1	UPI0000000DD8	0	getma.org/pdb.php?prot=AP2M1_HUMAN&from=159&to=435&var=H195N	ENST00000292807		ENSG00000161203	564		80	1.92		HGNC	p.H195N		AP2M1		SNV							ENST00000292807	protein_coding	getma.org/?cm=var&var=hg19,3,183898890,C,A&fts=all		Superfamily_domains:0038852,Gene3D:2.60.40.1170,Pfam_domain:PF00928,PIRSF_domain:PIRSF005992,PROSITE_profiles:PS51072,hmmpanther:PTHR11998		H/N		A	medium	731/1931		getma.org/?cm=msa&ty=f&p=AP2M1_HUMAN&rb=159&re=435&var=H195N	tolerated(0.13)	C9JJD3_HUMAN			YES	AP2M1,missense_variant,p.His193Asn,ENST00000382456,NM_001025205.1;AP2M1,missense_variant,p.His193Asn,ENST00000439647,;AP2M1,missense_variant,p.His195Asn,ENST00000292807,NM_004068.3;AP2M1,missense_variant,p.His220Asn,ENST00000411763,;EIF2B5,intron_variant,,ENST00000444495,;AP2M1,intron_variant,,ENST00000432591,;ABCF3,upstream_gene_variant,,ENST00000429586,NM_018358.2;AP2M1,upstream_gene_variant,,ENST00000442686,;AP2M1,downstream_gene_variant,,ENST00000431779,;AP2M1,downstream_gene_variant,,ENST00000448139,;AP2M1,downstream_gene_variant,,ENST00000427072,;AP2M1,downstream_gene_variant,,ENST00000455925,;AP2M1,non_coding_transcript_exon_variant,,ENST00000461733,;AP2M1,downstream_gene_variant,,ENST00000460862,;AP2M1,non_coding_transcript_exon_variant,,ENST00000468048,;AP2M1,non_coding_transcript_exon_variant,,ENST00000472560,;AP2M1,non_coding_transcript_exon_variant,,ENST00000490151,;AP2M1,downstream_gene_variant,,ENST00000487958,;ABCF3,upstream_gene_variant,,ENST00000421340,;AP2M1,downstream_gene_variant,,ENST00000466598,;AP2M1,upstream_gene_variant,,ENST00000480260,;AP2M1,upstream_gene_variant,,ENST00000463935,;AP2M1,downstream_gene_variant,,ENST00000484469,;AP2M1,upstream_gene_variant,,ENST00000476434,;							MODERATE	583/1308	H195N	AP2M1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000292807		CCDS43177.1			1	
FBXO31	0	LGGM	GRCh37	16	87369859	87369859	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	15	5	.	.	ENST00000311635.7:c.744G>A	p.Thr248=	p.T248=	ENST00000311635	NM_024735.3	248	acG/acA	0	1	1	UPI000021D235	0		ENST00000311635		ENSG00000103264	16510		20			HGNC	p.T248T	rs747440641,COSM1380306,COSM1380305	FBXO31		SNV			1			0,1,1	ENST00000311635	protein_coding			hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF126		T		T		757/5934				H3BUC7_HUMAN			YES	FBXO31,synonymous_variant,p.=,ENST00000311635,NM_024735.3,NM_001282683.1;FBXO31,synonymous_variant,p.=,ENST00000563113,;RP11-178L8.4,upstream_gene_variant,,ENST00000568879,;FBXO31,intron_variant,,ENST00000565593,;	0.000116				0,1,1		LOW	744/1620		FBX31_HUMAN			Transcript			.	ENSP00000310841	8.24E-06	CCDS32501.1			1	
TBC1D24	0	LGGM	GRCh37	16	2546426	2546426	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	3	5	.	.	ENST00000293970.5:c.277C>T	p.Pro93Ser	p.P93S	ENST00000293970	NM_001199107.1	93	Ccc/Tcc	0	1	1	UPI000041A97A	0	getma.org/pdb.php?prot=TBC24_HUMAN&from=48&to=255&var=P93S	ENST00000293970		ENSG00000162065	29203		8	2.67		HGNC	p.P93S		TBC1D24		SNV			1				ENST00000567020	protein_coding	getma.org/?cm=var&var=hg19,16,2546426,C,T&fts=all		hmmpanther:PTHR23353:SF2,hmmpanther:PTHR23353,SMART_domains:SM00164		P/S		T	medium	410/4340		getma.org/?cm=msa&ty=f&p=TBC24_HUMAN&rb=48&re=255&var=P93S	deleterious(0)	H3BV07_HUMAN,H3BNU1_HUMAN			YES	TBC1D24,missense_variant,p.Pro93Ser,ENST00000567020,NM_020705.2;TBC1D24,missense_variant,p.Pro93Ser,ENST00000293970,NM_001199107.1;TBC1D24,missense_variant,p.Pro93Ser,ENST00000434757,;RP11-20I23.1,missense_variant,p.Pro93Ser,ENST00000564543,;TBC1D24,upstream_gene_variant,,ENST00000564879,;TBC1D24,downstream_gene_variant,,ENST00000562105,;TBC1D24,upstream_gene_variant,,ENST00000569874,;							MODERATE	277/1680	P93S	TBC24_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000293970		CCDS55980.1			1	
PLK3	0	LGGM	GRCh37	1	45269022	45269022	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	5	.	.	ENST00000372201.4:c.1031T>A	p.Phe344Tyr	p.F344Y	ENST00000372201	NM_004073.2	344	tTt/tAt	0	1	1	UPI000013ED1D	0	NA	ENST00000372201		ENSG00000173846	2154		27	2.435		HGNC	p.F344Y		PLK3		SNV							ENST00000372201	protein_coding	getma.org/?cm=var&var=hg19,1,45269022,T,A&fts=all		Superfamily_domains:SSF56112,hmmpanther:PTHR24345:SF42,hmmpanther:PTHR24345		F/Y		A	medium	1270/2492		getma.org/?cm=msa&ty=f&p=PLK3_HUMAN&rb=315&re=469&var=F344Y	deleterious(0.01)				YES	PLK3,missense_variant,p.Phe344Tyr,ENST00000372201,NM_004073.2;TCTEX1D4,downstream_gene_variant,,ENST00000372200,NM_001013632.2;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,,ENST00000461358,;PLK3,non_coding_transcript_exon_variant,,ENST00000476731,;PLK3,upstream_gene_variant,,ENST00000493100,;PLK3,upstream_gene_variant,,ENST00000461769,;							MODERATE	1031/1941	F344Y	PLK3_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000361275		CCDS515.1			1	
PRRC2B	0	LGGM	GRCh37	9	134350128	134350128	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	47	5	.	.	ENST00000357304.4:c.2612G>T	p.Trp871Leu	p.W871L	ENST00000357304	NM_013318.3	871	tGg/tTg	0	1	1	UPI00002374A3	0	NA	ENST00000357304		ENSG00000130723	28121		52	0.805		HGNC	p.W140L		PRRC2B		SNV							ENST00000456307	protein_coding	getma.org/?cm=var&var=hg19,9,134350128,G,T&fts=all		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		W/L		T	low	2667/11042		getma.org/?cm=msa&ty=f&p=PRC2B_HUMAN&rb=795&re=994&var=W871L	tolerated(0.41)	Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,missense_variant,p.Trp871Leu,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Trp140Leu,ENST00000456307,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,intron_variant,,ENST00000405995,;PRRC2B,intron_variant,,ENST00000458550,;PRRC2B,upstream_gene_variant,,ENST00000451855,;PRRC2B,downstream_gene_variant,,ENST00000422467,;							MODERATE	2612/6690	W871L	PRC2B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349856		CCDS48044.1			1	
TRPV4	0	LGGM	GRCh37	12	110232220	110232220	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	70	5	.	.	ENST00000418703.2:c.1405G>A	p.Val469Ile	p.V469I	ENST00000418703	NM_001177431.1	469	Gtc/Atc	0	1		UPI000003BB44	0	NA	ENST00000261740		ENSG00000111199	18083		75	1.5		HGNC	p.V469I	rs369637458,COSM1737200	TRPV4		SNV	T:0		1			0,1	ENST00000538125	protein_coding	getma.org/?cm=var&var=hg19,12,110232220,C,T&fts=all		hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF4,TIGRFAM_domain:TIGR00870,Transmembrane_helices:TMhelix		V/I	T:0.0001	T	low	1488/3233	1.50E-05	getma.org/?cm=msa&ty=f&p=TRPV4_HUMAN&rb=270&re=469&var=V469I	tolerated(0.4)	F5H6Q4_HUMAN				TRPV4,missense_variant,p.Val469Ile,ENST00000418703,NM_001177431.1;TRPV4,missense_variant,p.Val469Ile,ENST00000261740,NM_021625.4;TRPV4,missense_variant,p.Val422Ile,ENST00000392719,;TRPV4,missense_variant,p.Val409Ile,ENST00000346520,;TRPV4,missense_variant,p.Val435Ile,ENST00000536838,;TRPV4,missense_variant,p.Val422Ile,ENST00000541794,NM_001177428.1;TRPV4,missense_variant,p.Val409Ile,ENST00000537083,NM_147204.2;TRPV4,missense_variant,p.Val362Ile,ENST00000544971,NM_001177433.1;TRPV4,missense_variant,p.Val469Ile,ENST00000538125,;					0,1		MODERATE	1405/2616	V469I	TRPV4_HUMAN			Transcript		benign(0.15)	.	ENSP00000261740	8.24E-06	CCDS9134.1			1	
ALPK2	0	LGGM	GRCh37	18	56202977	56202977	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	5	.	.	ENST00000361673.3:c.4442A>G	p.Gln1481Arg	p.Q1481R	ENST00000361673	NM_052947.3	1481	cAa/cGa	0	1	1	UPI000022A768	0	NA	ENST00000361673		ENSG00000198796	20565		42	1.445		HGNC	p.Q1481R		ALPK2		SNV							ENST00000361673	protein_coding	getma.org/?cm=var&var=hg19,18,56202977,T,C&fts=all		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6		Q/R		C	low	4656/7303		getma.org/?cm=msa&ty=f&p=ALPK2_HUMAN&rb=667&re=1783&var=Q1481R	tolerated(0.13)				YES	ALPK2,missense_variant,p.Gln1481Arg,ENST00000361673,NM_052947.3;RP11-1151B14.4,intron_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;							MODERATE	4442/6513	Q1481R	ALPK2_HUMAN			Transcript		benign(0.025)	.	ENSP00000354991		CCDS11966.2			1	
MECOM	0	LGGM	GRCh37	3	168838872	168838872	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	15	5	.	.	ENST00000264674.3:c.735C>T	p.His245=	p.H245=	ENST00000264674	NM_001105077.3	245	caC/caT	0	1		UPI000013D551	0		ENST00000468789		ENSG00000085276	3498		20			HGNC	p.H245H		MECOM		SNV			1				ENST00000264674	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24393,SMART_domains:SM00355,Superfamily_domains:SSF57667		H		A		928/3691				Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				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.=,ENST00000492586,;MECOM,downstream_gene_variant,,ENST00000460890,;MECOM,downstream_gene_variant,,ENST00000487503,;MECOM,downstream_gene_variant,,ENST00000494597,;MECOM,downstream_gene_variant,,ENST00000484519,;MECOM,non_coding_transcript_exon_variant,,ENST00000461430,;							LOW	540/3156		EVI1_HUMAN			Transcript			.	ENSP00000419995		CCDS3205.1			1	
C10orf115	0	LGGM	GRCh37	10	23528684	23528684	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	7	6	.	.	ENST00000376501.5:c.40C>A	p.Leu14Ile	p.L14I	ENST00000376501		14	Ctt/Att	0	1	1	UPI0000D60F1E	0		ENST00000376501		ENSG00000204566	31449		13			HGNC	p.L14I		C10orf115		SNV							ENST00000376501	protein_coding			hmmpanther:PTHR22382,hmmpanther:PTHR22382:SF5		L/I		T		62/664			tolerated(0.24)				YES	C10orf115,missense_variant,p.Leu14Ile,ENST00000376501,;							MODERATE	40/285		CJ115_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000365684					1	
COA7	0	LGGM	GRCh37	1	53153759	53153759	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	22	6	.	.	ENST00000371538.3:c.329C>A	p.Ala110Glu	p.A110E	ENST00000371538	NM_023077.2	110	gCa/gAa	0	1	1	UPI0000034E0F	0	NA	ENST00000371538		ENSG00000162377	25716		28	3.165		HGNC	p.A110E		COA7		SNV							ENST00000371538	protein_coding	getma.org/?cm=var&var=hg19,1,53153759,G,T&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF08238,hmmpanther:PTHR13891,hmmpanther:PTHR13891:SF1,SMART_domains:SM00671,Superfamily_domains:SSF81901		A/E		T	medium	369/1620		getma.org/?cm=msa&ty=f&p=SELR1_HUMAN&rb=108&re=146&var=A110E	deleterious(0)				YES	COA7,missense_variant,p.Ala110Glu,ENST00000371538,NM_023077.2;COA7,non_coding_transcript_exon_variant,,ENST00000486918,;							MODERATE	329/696	A110E	SELR1_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000360593		CCDS570.1			1	
PRM2	0	LGGM	GRCh37	16	11370018	11370018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	6	.	.	ENST00000241808.4:c.210G>T	p.Gln70His	p.Q70H	ENST00000241808	NM_002762.2	70	caG/caT	0	1	1	UPI000012CD8E	0	NA	ENST00000241808		ENSG00000122304	9448		31	0.345		HGNC	p.Q70H		PRM2		SNV							ENST00000435245	protein_coding	getma.org/?cm=var&var=hg19,16,11370018,C,A&fts=all		Pfam_domain:PF00841,hmmpanther:PTHR21341,Low_complexity_(Seg):seg		Q/H		A	neutral	320/680		getma.org/?cm=msa&ty=f&p=PRM2_HUMAN&rb=1&re=95&var=Q70H	deleterious_low_confidence(0.03)	Q1LZN1_HUMAN			YES	PRM2,missense_variant,p.Gln70His,ENST00000435245,NM_001286356.1;PRM2,missense_variant,p.Gln70His,ENST00000241808,NM_002762.2,NM_001286358.1;RMI2,intron_variant,,ENST00000572173,;PRM1,downstream_gene_variant,,ENST00000312511,NM_002761.2;PRM3,upstream_gene_variant,,ENST00000327157,NM_021247.1;SNORA48,upstream_gene_variant,,ENST00000390926,;RMI2,intron_variant,,ENST00000573910,;							MODERATE	210/309	Q70H	PRM2_HUMAN			Transcript		unknown(0)	.	ENSP00000241808		CCDS42118.1			1	
P4HA3	0	LGGM	GRCh37	11	74000144	74000144	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	10	6	.	.	ENST00000331597.4:c.749C>G	p.Ser250Cys	p.S250C	ENST00000331597	NM_182904.3	250	tCt/tGt	0	1	1	UPI00000423C1	0	getma.org/pdb.php?prot=P4HA3_HUMAN&from=163&to=362&var=S250C	ENST00000331597		ENSG00000149380	30135		16	1.95		HGNC	p.S250C		P4HA3		SNV							ENST00000331597	protein_coding	getma.org/?cm=var&var=hg19,11,74000144,G,C&fts=all		hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF14,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		S/C		C	medium	795/2274		getma.org/?cm=msa&ty=f&p=P4HA3_HUMAN&rb=163&re=362&var=S250C	deleterious(0)	H0YCC3_HUMAN			YES	P4HA3,missense_variant,p.Ser250Cys,ENST00000331597,NM_182904.3,NM_001288748.1;P4HA3,missense_variant,p.Ser250Cys,ENST00000427714,;P4HA3,missense_variant,p.Ser250Cys,ENST00000524388,;P4HA3,3_prime_UTR_variant,,ENST00000525968,;P4HA3,upstream_gene_variant,,ENST00000531716,;							MODERATE	749/1635	S250C	P4HA3_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000332170		CCDS8230.1			1	
PROX1	0	LGGM	GRCh37	1	214170383	214170383	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	24	57	.	.	ENST00000366958.4:c.505G>C	p.Val169Leu	p.V169L	ENST00000366958	NM_001270616.1	169	Gtt/Ctt	0	1		UPI0000071D14	0	NA	ENST00000261454		ENSG00000117707	9459		81	2.305		HGNC	p.V169L		PROX1		SNV							ENST00000261454	protein_coding	getma.org/?cm=var&var=hg19,1,214170383,G,C&fts=all		hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198		V/L		C	medium	505/2797		getma.org/?cm=msa&ty=f&p=PROX1_HUMAN&rb=36&re=313&var=V169L	deleterious(0)	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN				PROX1,missense_variant,p.Val169Leu,ENST00000366958,NM_001270616.1;PROX1,missense_variant,p.Val169Leu,ENST00000498508,;PROX1,missense_variant,p.Val169Leu,ENST00000435016,NM_002763.4;PROX1,missense_variant,p.Val169Leu,ENST00000261454,;PROX1,missense_variant,p.Val169Leu,ENST00000471129,;PROX1,downstream_gene_variant,,ENST00000607425,;							MODERATE	505/2214	V169L	PROX1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261454		CCDS31021.1			1	
GATA3	0	LGGM	GRCh37	10	8115979	8115979	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	15	7	.	.	ENST00000346208.3:c.1325T>C	p.Met442Thr	p.M442T	ENST00000346208		442	aTg/aCg	0	1		UPI000004904B	0	NA	ENST00000346208		ENSG00000107485	4172		22	1.67		HGNC	p.M442T		GATA3		SNV			1				ENST00000346208	protein_coding	getma.org/?cm=var&var=hg19,10,8115979,T,C&fts=all		hmmpanther:PTHR10071:SF106,hmmpanther:PTHR10071,PIRSF_domain:PIRSF003027		M/T		C	low	1780/2654		getma.org/?cm=msa&ty=f&p=GATA3_HUMAN&rb=412&re=443&var=M442T	deleterious(0)					GATA3,missense_variant,p.Met443Thr,ENST00000379328,NM_001002295.1,NM_002051.2;GATA3,missense_variant,p.Met442Thr,ENST00000346208,;GATA3,non_coding_transcript_exon_variant,,ENST00000461472,;							MODERATE	1325/1332	M442T	GATA3_HUMAN			Transcript		possibly_damaging(0.769)	.	ENSP00000341619		CCDS7083.1			1	
NUMA1	0	LGGM	GRCh37	11	71716379	71716379	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	15	7	.	.	ENST00000393695.3:c.5729A>G	p.Glu1910Gly	p.E1910G	ENST00000393695	NM_006185.2	1910	gAg/gGg	0	1	1	UPI000013DB8B	0	getma.org/pdb.php?prot=NUMA1_HUMAN&from=1686&to=2113&var=E1910G	ENST00000393695		ENSG00000137497	8059		22	0.895		HGNC	p.E1910G		NUMA1		SNV			1				ENST00000393695	protein_coding	getma.org/?cm=var&var=hg19,11,71716379,T,C&fts=all		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24		E/G		C	low	6061/7343		getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=1686&re=2113&var=E1910G		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			YES	NUMA1,missense_variant,p.Glu1910Gly,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Glu1896Gly,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Glu774Gly,ENST00000351960,;NUMA1,missense_variant,p.Glu759Gly,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,intron_variant,,ENST00000343898,NM_173044.2;IL18BP,downstream_gene_variant,,ENST00000534583,;NUMA1,downstream_gene_variant,,ENST00000546036,;							MODERATE	5729/6348	E1910G	NUMA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377298		CCDS31633.1			1	
SLFN11	0	LGGM	GRCh37	17	33690822	33690822	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	50	7	.	.	ENST00000394566.1:c.5A>T	p.Glu2Val	p.E2V	ENST00000394566	NM_001104587.1	2	gAg/gTg	0	1		UPI0000140B0E	0	NA	ENST00000308377		ENSG00000172716	26633		57	2.36		HGNC	p.E2V		SLFN11		SNV							ENST00000588579	protein_coding	getma.org/?cm=var&var=hg19,17,33690822,T,A&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF20		E/V		A	medium	158/4910		getma.org/?cm=msa&ty=f&p=SLN11_HUMAN&rb=1&re=200&var=E2V	deleterious_low_confidence(0.01)	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN				SLFN11,missense_variant,p.Glu2Val,ENST00000394566,NM_001104587.1,NM_001104590.1,NM_001104588.1,NM_001104589.1;SLFN11,missense_variant,p.Glu2Val,ENST00000308377,NM_152270.3;SLFN11,missense_variant,p.Glu2Val,ENST00000441608,;SLFN11,missense_variant,p.Glu2Val,ENST00000427966,;SLFN11,missense_variant,p.Glu2Val,ENST00000591682,;SLFN11,missense_variant,p.Glu2Val,ENST00000430814,;SLFN11,missense_variant,p.Glu2Val,ENST00000592122,;SLFN11,missense_variant,p.Glu2Val,ENST00000589811,;SLFN11,missense_variant,p.Glu2Val,ENST00000588579,;SLFN11,non_coding_transcript_exon_variant,,ENST00000589562,;SLFN11,downstream_gene_variant,,ENST00000498396,;SLFN11,upstream_gene_variant,,ENST00000586099,;							MODERATE	May-06	E2V	SLN11_HUMAN			Transcript		benign(0.046)	.	ENSP00000312402		CCDS11294.1			1	
MYH7	0	LGGM	GRCh37	14	23901069	23901069	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	8	.	.	ENST00000355349.3:c.540C>T	p.Ser180=	p.S180=	ENST00000355349	NM_000257.2	180	tcC/tcT	0	1	1	UPI000014019B	0		ENST00000355349	benign	ENSG00000092054	7577		52			HGNC	p.S180S	rs369490861	MYH7		SNV	T:0		1			1	ENST00000355349	protein_coding			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279,SMART_domains:SM00242,Superfamily_domains:SSF52540		S	T:0.0002	A		703/6087	1.50E-05			Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.2;							LOW	540/5808		MYH7_HUMAN			Transcript			.	ENSP00000347507	8.24E-06	CCDS9601.1			1	
SLC24A5	0	LGGM	GRCh37	15	48414113	48414113	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	39	8	.	.	ENST00000341459.3:c.181A>G	p.Arg61Gly	p.R61G	ENST00000341459	NM_205850.2	61	Aga/Gga	0	1	1	UPI0000242BC9	0	NA	ENST00000341459		ENSG00000188467	20611		47	1.1		HGNC	p.R61G		SLC24A5		SNV			1				ENST00000341459	protein_coding	getma.org/?cm=var&var=hg19,15,48414113,A,G&fts=all		hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846		R/G		G	low	254/1897		getma.org/?cm=msa&ty=f&p=NCKX5_HUMAN&rb=1&re=80&var=R61G	tolerated(0.22)				YES	SLC24A5,missense_variant,p.Arg61Gly,ENST00000482911,;SLC24A5,missense_variant,p.Arg61Gly,ENST00000341459,NM_205850.2;SLC24A5,intron_variant,,ENST00000449382,;SLC24A5,upstream_gene_variant,,ENST00000463289,;							MODERATE	181/1503	R61G	NCKX5_HUMAN			Transcript		benign(0.005)	.	ENSP00000341550		CCDS10128.1			1	
LILRA5	0	LGGM	GRCh37	19	54822775	54822775	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	23	8	.	.	ENST00000301219.3:c.621C>A	p.Ser207Arg	p.S207R	ENST00000301219	NM_021250.2	207	agC/agA	0	1		UPI0000034C08	0	getma.org/pdb.php?prot=LIRA5_HUMAN&from=141&to=218&var=S207R	ENST00000432233		ENSG00000187116	16309		31	2.855		HGNC	p.S207R		LILRA5		SNV							ENST00000301219	protein_coding	getma.org/?cm=var&var=hg19,19,54822775,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/R		T	medium	700/922		getma.org/?cm=msa&ty=f&p=LIRA5_HUMAN&rb=141&re=218&var=S207R	tolerated(0.09)					LILRA5,missense_variant,p.Ser207Arg,ENST00000301219,NM_021250.2;LILRA5,missense_variant,p.Ser195Arg,ENST00000346508,NM_181985.2;LILRA5,missense_variant,p.Ser195Arg,ENST00000446712,NM_181986.2;LILRA5,missense_variant,p.Ser207Arg,ENST00000432233,NM_181879.2;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000477720,;							MODERATE	621/798	S207R	LIRA5_HUMAN			Transcript		benign(0.036)	.	ENSP00000404236		CCDS46178.1			1	
BSN	0	LGGM	GRCh37	3	49699360	49699360	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	35	9	.	.	ENST00000296452.4:c.10082G>A	p.Arg3361Gln	p.R3361Q	ENST00000296452	NM_003458.3	3361	cGg/cAg	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		44	1.67		HGNC	p.R3361Q	rs368259515	BSN		SNV	A:0						ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49699360,G,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		R/Q	A:0.0001	A	low	10196/15955	1.51E-05	getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=2363&re=3924&var=R3361Q					YES	BSN,missense_variant,p.Arg3361Gln,ENST00000296452,NM_003458.3;							MODERATE	10082/11781	R3361Q	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452	8.24E-06	CCDS2800.1			1	
CYP2S1	0	LGGM	GRCh37	19	41700492	41700492	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	15	9	.	.	ENST00000310054.4:c.221C>T	p.Pro74Leu	p.P74L	ENST00000310054	NM_030622.6	74	cCg/cTg	0	1	1	UPI00000467C9	0	getma.org/pdb.php?prot=CP2S1_HUMAN&from=33&to=492&var=P74L	ENST00000310054		ENSG00000167600	15654		24	1.445		HGNC	p.P74L		CYP2S1		SNV							ENST00000600561	protein_coding	getma.org/?cm=var&var=hg19,19,41700492,C,T&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463		P/L		T	low	437/2782		getma.org/?cm=msa&ty=f&p=CP2S1_HUMAN&rb=33&re=492&var=P74L	deleterious(0)				YES	CYP2S1,missense_variant,p.Pro74Leu,ENST00000310054,NM_030622.6;CYP2S1,missense_variant,p.Pro74Leu,ENST00000600561,;CYP2S1,5_prime_UTR_variant,,ENST00000542619,;CYP2S1,intron_variant,,ENST00000597754,;RN7SL718P,upstream_gene_variant,,ENST00000581254,;CYP2S1,missense_variant,p.Pro74Leu,ENST00000593545,;CYP2S1,5_prime_UTR_variant,,ENST00000595590,;							MODERATE	221/1515	P74L	CP2S1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000308032		CCDS12573.1			1	
TAT	0	LGGM	GRCh37	16	71604725	71604725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	14	9	.	.	ENST00000355962.4:c.769G>T	p.Asp257Tyr	p.D257Y	ENST00000355962	NM_000353.2	257	Gat/Tat	0	1	1	UPI0000126636	0	getma.org/pdb.php?prot=ATTY_HUMAN&from=71&to=434&var=D257Y	ENST00000355962		ENSG00000198650	11573		23	1.385		HGNC	p.D257Y		TAT		SNV			1				ENST00000355962	protein_coding	getma.org/?cm=var&var=hg19,16,71604725,C,A&fts=all		hmmpanther:PTHR11751:SF28,hmmpanther:PTHR11751,Gene3D:3.40.640.10,TIGRFAM_domain:TIGR01264,Pfam_domain:PF00155,TIGRFAM_domain:TIGR01265,PIRSF_domain:PIRSF000517,Superfamily_domains:SSF53383		D/Y		A	low	903/3983		getma.org/?cm=msa&ty=f&p=ATTY_HUMAN&rb=71&re=434&var=D257Y	deleterious(0)				YES	TAT,missense_variant,p.Asp257Tyr,ENST00000355962,NM_000353.2;RP11-432I5.1,intron_variant,,ENST00000561529,;TAT,downstream_gene_variant,,ENST00000566094,;TAT,downstream_gene_variant,,ENST00000566010,;TAT,upstream_gene_variant,,ENST00000564007,;							MODERATE	769/1365	D257Y	ATTY_HUMAN			Transcript		benign(0.2)	.	ENSP00000348234		CCDS10903.1			1	
PRDM16	0	LGGM	GRCh37	1	3328640	3328640	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	14	9	.	.	ENST00000270722.5:c.1879A>G	p.Ser627Gly	p.S627G	ENST00000270722		627	Agc/Ggc	0	1	1	UPI0000458A29	0	NA	ENST00000270722		ENSG00000142611	14000		23	2.295		HGNC	p.S443G		PRDM16		SNV			1				ENST00000512462	protein_coding	getma.org/?cm=var&var=hg19,1,3328640,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393		S/G		G	medium	1928/8690		getma.org/?cm=msa&ty=f&p=PRD16_HUMAN&rb=446&re=645&var=S627G	deleterious(0)				YES	PRDM16,missense_variant,p.Ser628Gly,ENST00000378398,;PRDM16,missense_variant,p.Ser627Gly,ENST00000441472,NM_022114.3;PRDM16,missense_variant,p.Ser627Gly,ENST00000270722,;PRDM16,missense_variant,p.Ser627Gly,ENST00000442529,NM_199454.2;PRDM16,missense_variant,p.Ser627Gly,ENST00000378391,;PRDM16,missense_variant,p.Ser628Gly,ENST00000511072,;PRDM16,missense_variant,p.Ser628Gly,ENST00000514189,;PRDM16,missense_variant,p.Ser436Gly,ENST00000509860,;PRDM16,non_coding_transcript_exon_variant,,ENST00000512462,;							MODERATE	1879/3831	S627G	PRD16_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000270722		CCDS41236.2			1	
FKBP6	0	LGGM	GRCh37	7	72745725	72745725	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	53	10	.	.	ENST00000252037.4:c.534C>T	p.Gly178=	p.G178=	ENST00000252037	NM_003602.4	178	ggC/ggT	0	1	1	UPI000000165F	0		ENST00000252037		ENSG00000077800	3722		63			HGNC	p.G178G		FKBP6		SNV							ENST00000252037	protein_coding			Gene3D:1.25.40.10,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF10,SMART_domains:SM00028,Superfamily_domains:SSF48452		G		T		603/1500							YES	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,intron_variant,,ENST00000442793,;TRIM50,upstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,upstream_gene_variant,,ENST00000493498,;FKBP6,synonymous_variant,p.=,ENST00000429879,;FKBP6,3_prime_UTR_variant,,ENST00000445032,;FKBP6,downstream_gene_variant,,ENST00000437013,;							LOW	534/984		FKBP6_HUMAN			Transcript			.	ENSP00000252037		CCDS43595.1			1	
COL19A1	0	LGGM	GRCh37	6	70589540	70589540	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	18	10	.	.	ENST00000322773.4:c.81G>C	p.Arg27Ser	p.R27S	ENST00000322773	NM_001858.4	27	agG/agC	0	1	1	UPI000004F1E3	0	NA	ENST00000322773		ENSG00000082293	2196		28	1.78		HGNC	p.R27S		COL19A1		SNV							ENST00000322773	protein_coding	getma.org/?cm=var&var=hg19,6,70589540,G,C&fts=all				R/S		C	low	183/6232		getma.org/?cm=msa&ty=f&p=COJA1_HUMAN&rb=1&re=200&var=R27S	tolerated(0.56)				YES	COL19A1,missense_variant,p.Arg27Ser,ENST00000322773,NM_001858.4;COL19A1,non_coding_transcript_exon_variant,,ENST00000476656,;COL19A1,non_coding_transcript_exon_variant,,ENST00000478620,;							MODERATE	81/3429	R27S	COJA1_HUMAN			Transcript		unknown(0)	.	ENSP00000316030		CCDS4970.1			1	
IL32	0	LGGM	GRCh37	16	3119304	3119305	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H050452	H050452N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	28	10	.	.	ENST00000525643.2:c.515_516insG	p.Asp172GlufsTer12	p.D172Efs*12	ENST00000525643		172	gac/gaGc	0	1		UPI0000070836	0		ENST00000396890		ENSG00000008517	16830		38			HGNC	p.D162fs	rs398100042	IL32		insertion							ENST00000531965	protein_coding					D/EX		G		730-731/1067				F8VSD2_HUMAN,E9PIV2_HUMAN,C6GKH2_HUMAN				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,;							HIGH	653-654/705		IL32_HUMAN			Transcript			.	ENSP00000380099					1	
FCRL1	0	LGGM	GRCh37	1	157772236	157772236	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	72	11	.	.	ENST00000368176.3:c.538C>T	p.Gln180Ter	p.Q180*	ENST00000368176	NM_001159398.1	180	Caa/Taa	0	1	1	UPI000006E5BD	0	NA	ENST00000368176		ENSG00000163534	18509		83	0		HGNC	p.Q180X		FCRL1		SNV							ENST00000491942	protein_coding	getma.org/?cm=var&var=hg19,1,157772236,G,A&fts=all		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		Q/*		A	NA	606/2596		NA					YES	FCRL1,stop_gained,p.Gln180Ter,ENST00000358292,NM_001159397.1;FCRL1,stop_gained,p.Gln180Ter,ENST00000368176,NM_001159398.1,NM_052938.4;FCRL1,stop_gained,p.Gln180Ter,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,;							HIGH	538/1290	Q180*	FCRL1_HUMAN			Transcript			.	ENSP00000357158		CCDS1170.1			1	
ZNF730	0	LGGM	GRCh37	19	23328648	23328648	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	20	11	.	.	ENST00000597761.2:c.802T>G	p.Ser268Ala	p.S268A	ENST00000597761	NM_001277403.1	268	Tcc/Gcc	0	1	1	UPI000035E7F4	0	getma.org/pdb.php?prot=ZN730_HUMAN&from=268&to=269&var=S268A	ENST00000597761		ENSG00000183850	32470		31	1.045		HGNC	p.S268A		ZNF730		SNV							ENST00000597761	protein_coding	getma.org/?cm=var&var=hg19,19,23328648,T,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/A		G	low	1001/2374		getma.org/?cm=msa&ty=f&p=ZN730_HUMAN&rb=238&re=299&var=S268A	tolerated(0.07)				YES	ZNF730,missense_variant,p.Ser268Ala,ENST00000597761,NM_001277403.1;ZNF730,downstream_gene_variant,,ENST00000599195,;							MODERATE	802/1512	S268A	ZN730_HUMAN			Transcript		benign(0.226)	.	ENSP00000472959		CCDS59371.1			1	
OR52K1	0	LGGM	GRCh37	11	4510367	4510367	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	11	.	.	ENST00000307632.3:c.237G>A	p.Thr79=	p.T79=	ENST00000307632	NM_001005171.2	79	acG/acA	0	1	1	UPI00001AEE74	0		ENST00000307632		ENSG00000196778	15222		44			HGNC	p.T79T	rs765578382	OR52K1		SNV							ENST00000307632	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF21,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T		A		259/1030	4.50E-05						YES	OR52K1,synonymous_variant,p.=,ENST00000307632,NM_001005171.2;	0.000347						LOW	237/945		O52K1_HUMAN			Transcript			.	ENSP00000302422	4.94E-05	CCDS31352.1			1	
CENPE	0	LGGM	GRCh37	4	104032046	104032046	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	50	11	.	.	ENST00000265148.3:c.7663G>A	p.Glu2555Lys	p.E2555K	ENST00000265148	NM_001813.2	2555	Gaa/Aaa	0	1	1	UPI000020B28A	0	NA	ENST00000265148		ENSG00000138778	1856		61	1.61		HGNC	p.E2555K		CENPE		SNV			1				ENST00000265148	protein_coding	getma.org/?cm=var&var=hg19,4,104032046,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		E/K		T	low	7753/8612		getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=2061&re=2700&var=E2555K		D6RBW0_HUMAN			YES	CENPE,missense_variant,p.Glu2555Lys,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Glu2434Lys,ENST00000380026,NM_001286734.1;							MODERATE	7663/8106	E2555K	CENPE_HUMAN			Transcript		possibly_damaging(0.471)	.	ENSP00000265148		CCDS34042.1			1	
RIMS2	0	LGGM	GRCh37	8	104927783	104927783	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	11	.	.	ENST00000406091.3:c.1873A>C	p.Lys625Gln	p.K625Q	ENST00000406091	NM_001100117.2	625	Aaa/Caa	0	1	1	UPI0001597063	0	getma.org/pdb.php?prot=RIMS2_HUMAN&from=670&to=753&var=K703Q	ENST00000406091		ENSG00000176406	17283		55	2.07		HGNC	p.K433Q		RIMS2		SNV							ENST00000408894	protein_coding	getma.org/?cm=var&var=hg19,8,104927783,A,C&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		K/Q		C	medium	1873/4050		getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=670&re=753&var=K703Q	deleterious_low_confidence(0)	E9PFB6_HUMAN			YES	RIMS2,missense_variant,p.Lys433Gln,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Lys403Gln,ENST00000436393,;RIMS2,missense_variant,p.Lys625Gln,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Lys433Gln,ENST00000408894,;RIMS2,missense_variant,p.Lys480Gln,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Lys625Gln,ENST00000504942,;RIMS2,missense_variant,p.Lys433Gln,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,;							MODERATE	1873/4050	K703Q	RIMS2_HUMAN			Transcript		benign(0.076)	.	ENSP00000384892		CCDS55269.1			1	
ACACA	0	LGGM	GRCh37	17	35614753	35614753	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	51	12	.	.	ENST00000353139.5:c.1698A>G	p.Leu566=	p.L566=	ENST00000353139	NM_198834.1	566	ctA/ctG	0	1	1	UPI00002263AC	0		ENST00000353139		ENSG00000132142	84		63			HGNC	p.L566L		ACACA		SNV			1				ENST00000353139	protein_coding			PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246		L		C		2180/9962				Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN			YES	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,non_coding_transcript_exon_variant,,ENST00000590888,;							LOW	1698/7152		ACACA_HUMAN			Transcript			.	ENSP00000344789		CCDS42302.1			1	
KIDINS220	0	LGGM	GRCh37	2	8888121	8888121	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	5	12	.	.	ENST00000256707.3:c.3424G>T	p.Ala1142Ser	p.A1142S	ENST00000256707	NM_020738.2	1142	Gcc/Tcc	0	1	1	UPI0000208E08	0	NA	ENST00000256707		ENSG00000134313	29508		17	0.69		HGNC	p.A1142S		KIDINS220		SNV							ENST00000256707	protein_coding	getma.org/?cm=var&var=hg19,2,8888121,C,A&fts=all		hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5		A/S		A	neutral	3606/7361		getma.org/?cm=msa&ty=f&p=KDIS_HUMAN&rb=954&re=1153&var=A1142S	tolerated(0.59)	F8WAY8_HUMAN			YES	KIDINS220,missense_variant,p.Ala1142Ser,ENST00000256707,NM_020738.2;KIDINS220,missense_variant,p.Ala1142Ser,ENST00000427284,;KIDINS220,missense_variant,p.Ala1142Ser,ENST00000473731,;KIDINS220,3_prime_UTR_variant,,ENST00000459813,;KIDINS220,intron_variant,,ENST00000418530,;KIDINS220,intron_variant,,ENST00000489024,;KIDINS220,intron_variant,,ENST00000496383,;KIDINS220,intron_variant,,ENST00000488729,;							MODERATE	3424/5316	A1142S	KDIS_HUMAN			Transcript		unknown(0)	.	ENSP00000256707		CCDS42650.1			1	
TANC1	0	LGGM	GRCh37	2	160032948	160032948	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	13	.	.	ENST00000263635.6:c.1821G>T	p.Thr607=	p.T607=	ENST00000263635	NM_033394.2	607	acG/acT	0	1	1	UPI0000421D80	0		ENST00000263635		ENSG00000115183	29364		38			HGNC	p.T607T	COSM315784	TANC1		SNV						1	ENST00000263635	protein_coding			hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23		T		T		2058/7470							YES	TANC1,synonymous_variant,p.=,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,synonymous_variant,p.=,ENST00000454300,;					1		LOW	1821/5586		TANC1_HUMAN			Transcript			.	ENSP00000263635		CCDS42766.1			1	
CERS4	0	LGGM	GRCh37	19	8326696	8326696	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	21	13	.	.	ENST00000251363.5:c.973C>T	p.Arg325Cys	p.R325C	ENST00000251363	NM_024552.2	325	Cgc/Tgc	0	1	1	UPI000013CCFB	0	NA	ENST00000251363		ENSG00000090661	23747	8.64E-05	34	2.465		HGNC	p.R325C	rs775538437	CERS4		SNV							ENST00000251363	protein_coding	getma.org/?cm=var&var=hg19,19,8326696,C,T&fts=all		PROSITE_profiles:PS50922,hmmpanther:PTHR12560:SF6,hmmpanther:PTHR12560,Pfam_domain:PF03798,SMART_domains:SM00724,PIRSF_domain:PIRSF005225		R/C		T	medium	1273/1769		getma.org/?cm=msa&ty=f&p=CERS4_HUMAN&rb=131&re=332&var=R325C	deleterious(0.04)	H0YNR6_HUMAN,H0YMY6_HUMAN,H0YLY3_HUMAN,H0YKS3_HUMAN,H0YKR4_HUMAN,H0YKC9_HUMAN			YES	CERS4,missense_variant,p.Arg274Cys,ENST00000558331,;CERS4,missense_variant,p.Arg325Cys,ENST00000251363,NM_024552.2;CERS4,missense_variant,p.Arg325Cys,ENST00000559450,;CERS4,intron_variant,,ENST00000559336,;CERS4,non_coding_transcript_exon_variant,,ENST00000595722,;CERS4,downstream_gene_variant,,ENST00000558302,;CERS4,non_coding_transcript_exon_variant,,ENST00000557925,;CERS4,non_coding_transcript_exon_variant,,ENST00000599275,;CERS4,downstream_gene_variant,,ENST00000558501,;							MODERATE	973/1185	R325C	CERS4_HUMAN			Transcript		benign(0.219)	.	ENSP00000251363	8.24E-06	CCDS12197.1			1	
OR7A5	0	LGGM	GRCh37	19	14938672	14938672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	51	13	.	.	ENST00000322301.3:c.382C>A	p.His128Asn	p.H128N	ENST00000322301		128	Cac/Aac	0	1	1	UPI0000041DE3	0	getma.org/pdb.php?prot=OR7A5_HUMAN&from=1&to=138&var=H128N	ENST00000322301		ENSG00000188269	8368		64	1.14		HGNC	p.H128N		OR7A5		SNV							ENST00000594432	protein_coding	getma.org/?cm=var&var=hg19,19,14938672,G,T&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF219,Superfamily_domains:SSF81321		H/N		T	low	470/1048		getma.org/?cm=msa&ty=f&p=OR7A5_HUMAN&rb=1&re=138&var=H128N	deleterious_low_confidence(0)				YES	OR7A5,missense_variant,p.His128Asn,ENST00000322301,;OR7A5,missense_variant,p.His128Asn,ENST00000594432,NM_017506.1;OR7A5,intron_variant,,ENST00000601611,;OR7A5,intron_variant,,ENST00000595922,;OR7A5,intron_variant,,ENST00000599549,;							MODERATE	382/960	H128N	OR7A5_HUMAN			Transcript		possibly_damaging(0.835)	.	ENSP00000316955		CCDS12318.1			1	
VANGL2	0	LGGM	GRCh37	1	160390262	160390262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	85	14	.	.	ENST00000368061.2:c.862C>A	p.Pro288Thr	p.P288T	ENST00000368061	NM_020335.2	288	Cct/Act	0	1	1	UPI00001C1D79	0	NA	ENST00000368061		ENSG00000162738	15511		99	3.085		HGNC	p.P288T	rs751396709	VANGL2		SNV			1				ENST00000368061	protein_coding	getma.org/?cm=var&var=hg19,1,160390262,C,A&fts=all		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10		P/T		A	medium	1336/5340		getma.org/?cm=msa&ty=f&p=VANG2_HUMAN&rb=21&re=521&var=P288T	deleterious(0)				YES	VANGL2,missense_variant,p.Pro288Thr,ENST00000368061,NM_020335.2;VANGL2,intron_variant,,ENST00000483408,;	0.000116						MODERATE	862/1566	P288T	VANG2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357040	8.24E-06	CCDS30915.1			1	
KRT6C	0	LGGM	GRCh37	12	52863466	52863466	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	59	14	.	.	ENST00000252250.6:c.1412G>A	p.Gly471Asp	p.G471D	ENST00000252250	NM_173086.4	471	gGc/gAc	0	1	1	UPI00001AE73F	0	getma.org/pdb.php?prot=K2C6C_HUMAN&from=162&to=475&var=G471D	ENST00000252250		ENSG00000170465	20406		73	3.77		HGNC	p.G471D	rs774895415	KRT6C		SNV			1				ENST00000252250	protein_coding	getma.org/?cm=var&var=hg19,12,52863466,C,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593		G/D		T	high	1460/2289		getma.org/?cm=msa&ty=f&p=K2C6C_HUMAN&rb=162&re=475&var=G471D	deleterious(0)				YES	KRT6C,missense_variant,p.Gly471Asp,ENST00000252250,NM_173086.4;KRT6C,downstream_gene_variant,,ENST00000553087,;							MODERATE	1412/1695	G471D	K2C6C_HUMAN	0.000151		Transcript		probably_damaging(0.999)	.	ENSP00000252250	8.24E-06	CCDS8829.1			1	
MUC16	0	LGGM	GRCh37	19	9090699	9090699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	30	14	.	.	ENST00000397910.4:c.1116G>T	p.Glu372Asp	p.E372D	ENST00000397910	NM_024690.2	372	gaG/gaT	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		44	0		HGNC	p.E372D		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9090699,C,A&fts=all				E/D		A	neutral	1320/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1&re=652&var=E372D		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Glu372Asp,ENST00000397910,NM_024690.2;							MODERATE	1116/43524	E372D				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
AREL1	0	LGGM	GRCh37	14	75139792	75139792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	44	15	.	.	ENST00000356357.4:c.1288C>T	p.His430Tyr	p.H430Y	ENST00000356357	NM_001039479.1	430	Cat/Tat	0	1	1	UPI0000073D44	0	NA	ENST00000356357		ENSG00000119682	20363		59	1.5		HGNC	p.H430Y		AREL1		SNV							ENST00000356357	protein_coding	getma.org/?cm=var&var=hg19,14,75139792,G,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF284		H/Y		A	low	1804/5456		getma.org/?cm=msa&ty=f&p=K0317_HUMAN&rb=356&re=511&var=H430Y	tolerated(0.23)	H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN			YES	AREL1,missense_variant,p.His430Tyr,ENST00000356357,NM_001039479.1;AREL1,missense_variant,p.His269Tyr,ENST00000556202,;AREL1,downstream_gene_variant,,ENST00000490805,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,missense_variant,p.His430Tyr,ENST00000555330,;AREL1,missense_variant,p.His74Tyr,ENST00000481010,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;AREL1,non_coding_transcript_exon_variant,,ENST00000556327,;AREL1,downstream_gene_variant,,ENST00000553411,;AREL1,downstream_gene_variant,,ENST00000553279,;							MODERATE	1288/2472	H430Y	AREL1_HUMAN			Transcript		possibly_damaging(0.643)	.	ENSP00000348714		CCDS41971.1			1	
BAI3	0	LGGM	GRCh37	6	69728363	69728363	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	23	15	.	.	ENST00000370598.1:c.2079G>T	p.Gln693His	p.Q693H	ENST00000370598	NM_001704.2	693	caG/caT	0	1	1	UPI00001AE6A9	0	getma.org/pdb.php?prot=BAI3_HUMAN&from=586&to=810&var=Q693H	ENST00000370598		ENSG00000135298	945		38	1.055		HGNC	p.Q693H		BAI3		SNV							ENST00000370598	protein_coding	getma.org/?cm=var&var=hg19,6,69728363,G,T&fts=all		Pfam_domain:PF12003,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40		Q/H		T	low	2900/6010		getma.org/?cm=msa&ty=f&p=BAI3_HUMAN&rb=586&re=810&var=Q693H	tolerated(0.16)	S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,missense_variant,p.Gln693His,ENST00000370598,NM_001704.2;							MODERATE	2079/4569	Q693H	BAI3_HUMAN			Transcript		benign(0.002)	.	ENSP00000359630		CCDS4968.1			1	
TNRC6B	0	LGGM	GRCh37	22	40661806	40661806	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	75	15	.	.	ENST00000454349.2:c.1572A>C	p.Glu524Asp	p.E524D	ENST00000454349	NM_001162501.1	524	gaA/gaC	0	1	1	UPI00017A6F19	0	NA	ENST00000454349		ENSG00000100354	29190		90	1.385		HGNC	p.E524D		TNRC6B		SNV							ENST00000454349	protein_coding	getma.org/?cm=var&var=hg19,22,40661806,A,C&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		E/D		C	low	1783/18279		getma.org/?cm=msa&ty=f&p=TNR6B_HUMAN&rb=1&re=579&var=E524D	deleterious(0.05)				YES	TNRC6B,missense_variant,p.Glu524Asp,ENST00000454349,NM_001162501.1;TNRC6B,missense_variant,p.Glu524Asp,ENST00000335727,NM_015088.2;TNRC6B,missense_variant,p.Glu267Asp,ENST00000446273,;TNRC6B,intron_variant,,ENST00000301923,NM_001024843.1;TNRC6B,intron_variant,,ENST00000402203,;							MODERATE	1572/5502	E524D	TNR6B_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000401946		CCDS54533.1			1	
PXDN	0	LGGM	GRCh37	2	1667487	1667487	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	17	16	.	.	ENST00000252804.4:c.1457C>A	p.Thr486Lys	p.T486K	ENST00000252804	NM_012293.1	486	aCa/aAa	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=433&to=519&var=T486K	ENST00000252804		ENSG00000130508	14966		33	1.45		HGNC	p.T486K		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1667487,G,T&fts=all		PROSITE_profiles:PS50835,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/K		T	low	1508/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=433&re=519&var=T486K	deleterious(0.01)				YES	PXDN,missense_variant,p.Thr486Lys,ENST00000252804,NM_012293.1;PXDN,missense_variant,p.Thr482Lys,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,downstream_gene_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;							MODERATE	1457/4440	T486K	PXDN_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000252804		CCDS46221.1			1	
ASXL1	0	LGGM	GRCh37	20	31019202	31019202	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	61	16	.	.	ENST00000375687.4:c.797C>T	p.Ala266Val	p.A266V	ENST00000375687	NM_015338.5	266	gCc/gTc	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		77	2.22		HGNC	p.A266V		ASXL1		SNV			1				ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31019202,C,T&fts=all		Pfam_domain:PF13919,hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		A/V		T	medium	1221/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=240&re=368&var=A266V	deleterious(0)				YES	ASXL1,missense_variant,p.Ala266Val,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Ala261Val,ENST00000306058,;ASXL1,missense_variant,p.Ala38Val,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000542461,;ASXL1,downstream_gene_variant,,ENST00000470145,;ASXL1,non_coding_transcript_exon_variant,,ENST00000555564,;							MODERATE	797/4626	A266V	ASXL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364839		CCDS13201.1			1	
NFKBIB	0	LGGM	GRCh37	19	39395756	39395756	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	45	18	.	.	ENST00000313582.5:c.281G>A	p.Gly94Asp	p.G94D	ENST00000313582	NM_002503.4	94	gGc/gAc	0	1	1	UPI000006FFE4	0	getma.org/pdb.php?prot=IKBB_HUMAN&from=93&to=124&var=G94D	ENST00000313582		ENSG00000104825	7798		63	0		HGNC	p.G94D		NFKBIB		SNV							ENST00000313582	protein_coding	getma.org/?cm=var&var=hg19,19,39395756,G,A&fts=all		Prints_domain:PR01415,Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF30,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		G/D		A	neutral	315/1159		getma.org/?cm=msa&ty=f&p=IKBB_HUMAN&rb=93&re=124&var=G94D	deleterious(0.02)	I3L4X3_HUMAN			YES	NFKBIB,missense_variant,p.Gly62Asp,ENST00000392079,;NFKBIB,missense_variant,p.Gly94Asp,ENST00000572515,;NFKBIB,missense_variant,p.Gly94Asp,ENST00000313582,NM_002503.4;NFKBIB,missense_variant,p.Gly8Asp,ENST00000576510,NM_001243116.1;NFKBIB,missense_variant,p.Gly18Asp,ENST00000575359,;CCER2,downstream_gene_variant,,ENST00000571838,NM_001243212.1;CCER2,downstream_gene_variant,,ENST00000571845,;NFKBIB,3_prime_UTR_variant,,ENST00000509705,;							MODERATE	281/1071	G94D	IKBB_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000312988		CCDS12524.1			1	
CDH6	0	LGGM	GRCh37	5	31323018	31323018	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	31	18	.	.	ENST00000265071.2:c.1976A>T	p.Tyr659Phe	p.Y659F	ENST00000265071	NM_004932.3	659	tAc/tTc	0	1	1	UPI0000126D9B	0	NA	ENST00000265071		ENSG00000113361	1765		49	4.05		HGNC	p.Y659F		CDH6		SNV							ENST00000265071	protein_coding	getma.org/?cm=var&var=hg19,5,31323018,A,T&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027		Y/F		T	high	2241/8476		getma.org/?cm=msa&ty=f&p=CADH6_HUMAN&rb=637&re=784&var=Y659F	deleterious(0)				YES	CDH6,missense_variant,p.Tyr659Phe,ENST00000265071,NM_004932.3;CDH6,downstream_gene_variant,,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000504835,;							MODERATE	1976/2373	Y659F	CADH6_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000265071		CCDS3894.1			1	
UNC13C	0	LGGM	GRCh37	15	54306678	54306678	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	34	18	.	.	ENST00000260323.11:c.1578C>A	p.Thr526=	p.T526=	ENST00000260323	NM_001080534.1	526	acC/acA	0	1	1	UPI0000DD82AB	0		ENST00000260323		ENSG00000137766	23149		52			HGNC	p.T526T	COSM1373547,COSM1373548	UNC13C		SNV						1,1	ENST00000537900	protein_coding			hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		T		A		1578/8131				H3BRP8_HUMAN			YES	UNC13C,synonymous_variant,p.=,ENST00000545554,;UNC13C,synonymous_variant,p.=,ENST00000537900,;UNC13C,synonymous_variant,p.=,ENST00000260323,NM_001080534.1;					1,1		LOW	1578/6645		UN13C_HUMAN			Transcript			.	ENSP00000260323		CCDS45264.1			1	
TRIM36	0	LGGM	GRCh37	5	114473232	114473232	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	88	19	.	.	ENST00000282369.3:c.949G>C	p.Val317Leu	p.V317L	ENST00000282369	NM_018700.3	317	Gtt/Ctt	0	1	1	UPI000013DCD9	0	NA	ENST00000282369		ENSG00000152503	16280		107	0.295		HGNC	p.V317L		TRIM36		SNV							ENST00000282369	protein_coding	getma.org/?cm=var&var=hg19,5,114473232,C,G&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF29		V/L		G	neutral	1071/4050		getma.org/?cm=msa&ty=f&p=TRI36_HUMAN&rb=250&re=424&var=V317L	tolerated(1)	E9PBG3_HUMAN			YES	TRIM36,missense_variant,p.Val305Leu,ENST00000513154,;TRIM36,missense_variant,p.Val317Leu,ENST00000282369,NM_018700.3;TRIM36,missense_variant,p.Val162Leu,ENST00000514154,;TRIM36,downstream_gene_variant,,ENST00000513485,;							MODERATE	949/2187	V317L	TRI36_HUMAN			Transcript		benign(0.019)	.	ENSP00000282369		CCDS4115.1			1	
AVL9	0	LGGM	GRCh37	7	32609682	32609682	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	87	19	.	.	ENST00000318709.4:c.1266C>T	p.Ser422=	p.S422=	ENST00000318709	NM_015060.1	422	tcC/tcT	0	1	1	UPI0000049D97	0		ENST00000318709		ENSG00000105778	28994	8.64E-05	106			HGNC	p.S422S	rs539363741	AVL9		SNV							ENST00000318709	protein_coding		G:0	Pfam_domain:PF09794,hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF1		S		T		1487/6982	7.49E-05				G:0	G:0	YES	AVL9,synonymous_variant,p.=,ENST00000318709,NM_015060.1;AVL9,synonymous_variant,p.=,ENST00000446718,;AVL9,synonymous_variant,p.=,ENST00000409301,;AVL9,intron_variant,,ENST00000404479,;		G:0.0002					LOW	1266/1947		AVL9_HUMAN		G:0	Transcript			.	ENSP00000315568	4.94E-05	CCDS34613.1		G:0.001	1	
SIK2	0	LGGM	GRCh37	11	111487052	111487052	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	40	20	.	.	ENST00000304987.3:c.221T>G	p.Leu74Ter	p.L74*	ENST00000304987	NM_015191.1	74	tTa/tGa	0	1	1	UPI000006F406	0	NA	ENST00000304987		ENSG00000170145	21680		60	0		HGNC	p.L74X		SIK2		SNV							ENST00000304987	protein_coding	getma.org/?cm=var&var=hg19,11,111487052,T,G&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF037014,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF145,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/*		G	NA	394/9678		NA					YES	SIK2,stop_gained,p.Leu74Ter,ENST00000304987,NM_015191.1;							HIGH	221/2781	L74*	SIK2_HUMAN			Transcript			.	ENSP00000305976		CCDS8347.1			1	
DDX52	0	LGGM	GRCh37	17	35979866	35979866	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	48	20	.	.	ENST00000349699.2:c.1596G>T	p.Gln532His	p.Q532H	ENST00000349699	NM_007010.3	532	caG/caT	0	1	1	UPI0000046805	0	getma.org/pdb.php?prot=DDX52_HUMAN&from=385&to=546&var=Q532H	ENST00000349699		ENSG00000141141	20038		68	0.64		HGNC	p.Q532H	rs549227653	DDX52		SNV				9.79E-05			ENST00000349699	protein_coding	getma.org/?cm=var&var=hg19,17,35979866,C,A&fts=all	A:0.0008	Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF33		Q/H		A	neutral	1640/6359		getma.org/?cm=msa&ty=f&p=DDX52_HUMAN&rb=385&re=546&var=Q532H	deleterious(0.01)	A8MTP9_HUMAN	A:0	A:0	YES	DDX52,missense_variant,p.Gln532His,ENST00000349699,NM_007010.3;DDX52,missense_variant,p.Gln424His,ENST00000394367,;DDX52,missense_variant,p.Gln48His,ENST00000591354,;DDX52,3_prime_UTR_variant,,ENST00000488402,;DDX52,3_prime_UTR_variant,,ENST00000460080,;DDX52,non_coding_transcript_exon_variant,,ENST00000592520,;DDX52,downstream_gene_variant,,ENST00000589411,;		A:0.0002					MODERATE	1596/1800	Q532H	DDX52_HUMAN		A:0	Transcript		benign(0.281)	.	ENSP00000268854	8.24E-06	CCDS11323.1		A:0	1	
WDR11	0	LGGM	GRCh37	10	122625229	122625229	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	36	20	.	.	ENST00000263461.6:c.967A>T	p.Ile323Phe	p.I323F	ENST00000263461	NM_018117.11	323	Att/Ttt	0	1	1	UPI0000138ED1	0	NA	ENST00000263461		ENSG00000120008	13831		56	0.345		HGNC	p.I323F		WDR11		SNV			1				ENST00000263461	protein_coding	getma.org/?cm=var&var=hg19,10,122625229,A,T&fts=all		Superfamily_domains:SSF50978,hmmpanther:PTHR14593		I/F		T	neutral	1213/4732		getma.org/?cm=msa&ty=f&p=WDR11_HUMAN&rb=300&re=499&var=I323F	tolerated(0.77)	S4R3Z0_HUMAN,Q9NWV7_HUMAN,Q659C9_HUMAN			YES	WDR11,missense_variant,p.Ile323Phe,ENST00000263461,NM_018117.11;WDR11,missense_variant,p.Ile64Phe,ENST00000604585,;WDR11,downstream_gene_variant,,ENST00000462529,;WDR11,upstream_gene_variant,,ENST00000604220,;WDR11,downstream_gene_variant,,ENST00000605178,;WDR11,downstream_gene_variant,,ENST00000605069,;WDR11,missense_variant,p.Ile64Phe,ENST00000497136,;WDR11,intron_variant,,ENST00000605543,;							MODERATE	967/3675	I323F	WDR11_HUMAN			Transcript		benign(0.001)	.	ENSP00000263461		CCDS7619.1			1	
SEC24D	0	LGGM	GRCh37	4	119660392	119660392	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	54	21	.	.	ENST00000280551.6:c.2289C>A	p.His763Gln	p.H763Q	ENST00000280551		763	caC/caA	0	1	1	UPI00001AEA4F	0	getma.org/pdb.php?prot=SC24D_HUMAN&from=686&to=770&var=H763Q	ENST00000280551		ENSG00000150961	10706		75	2.94		HGNC	p.H394Q		SEC24D		SNV			1				ENST00000511481	protein_coding	getma.org/?cm=var&var=hg19,4,119660392,G,T&fts=all		hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803,Pfam_domain:PF08033,Superfamily_domains:SSF81995		H/Q		T	medium	2528/4030		getma.org/?cm=msa&ty=f&p=SC24D_HUMAN&rb=686&re=770&var=H763Q	deleterious(0.02)	E9PDM8_HUMAN,D6RGJ5_HUMAN			YES	SEC24D,missense_variant,p.His764Gln,ENST00000379735,NM_014822.2;SEC24D,missense_variant,p.His763Gln,ENST00000280551,;SEC24D,missense_variant,p.His319Gln,ENST00000419654,;SEC24D,missense_variant,p.His319Gln,ENST00000429811,;SEC24D,missense_variant,p.His394Gln,ENST00000511481,;SEC24D,non_coding_transcript_exon_variant,,ENST00000505134,;SEC24D,downstream_gene_variant,,ENST00000511033,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;SEC24D,upstream_gene_variant,,ENST00000502526,;							MODERATE	2289/3099	H763Q	SC24D_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000280551		CCDS3710.1			1	
MACF1	0	LGGM	GRCh37	1	39785352	39785352	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	21	21	.	.	ENST00000545844.1:c.3977T>G	p.Ile1326Ser	p.I1326S	ENST00000545844		1326	aTt/aGt	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		42	1.87		HGNC	p.I1321S		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39785352,T,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		I/S		G	low	4064/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=1201&re=1400&var=I1326S		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Ile1321Ser,ENST00000564288,;MACF1,missense_variant,p.Ile1358Ser,ENST00000567887,;MACF1,missense_variant,p.Ile1326Ser,ENST00000372915,;MACF1,missense_variant,p.Ile1326Ser,ENST00000545844,;MACF1,missense_variant,p.Ile1326Ser,ENST00000317713,;MACF1,missense_variant,p.Ile1326Ser,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Ile1326Ser,ENST00000539005,;MACF1,missense_variant,p.Ile460Ser,ENST00000372925,;MACF1,missense_variant,p.Ile1475Ser,ENST00000530262,;MACF1,missense_variant,p.Ile1284Ser,ENST00000524432,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;MACF1,3_prime_UTR_variant,,ENST00000496804,;							MODERATE	3977/22167	I1326S	MACF1_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000362006					1	
TMEM109	0	LGGM	GRCh37	11	60688419	60688419	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	45	21	.	.	ENST00000227525.3:c.299C>T	p.Ser100Phe	p.S100F	ENST00000227525	NM_024092.2	100	tCt/tTt	0	1	1	UPI0000072CF3	0	NA	ENST00000227525		ENSG00000110108	28771		66	1.905		HGNC	p.S100F		TMEM109		SNV							ENST00000536171	protein_coding	getma.org/?cm=var&var=hg19,11,60688419,C,T&fts=all		Pfam_domain:PF14965,hmmpanther:PTHR14550,hmmpanther:PTHR14550:SF2,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		S/F		T	medium	702/2413		getma.org/?cm=msa&ty=f&p=TM109_HUMAN&rb=1&re=241&var=S100F	tolerated(0.09)				YES	TMEM109,missense_variant,p.Ser100Phe,ENST00000227525,NM_024092.2;TMEM109,missense_variant,p.Ser100Phe,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,,ENST00000537110,;TMEM132A,upstream_gene_variant,,ENST00000537065,;							MODERATE	299/732	S100F	TM109_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000227525		CCDS7996.1			1	
CALCRL	0	LGGM	GRCh37	2	188247961	188247961	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	25	22	.	.	ENST00000409998.1:c.123C>A	p.Ile41=	p.I41=	ENST00000409998		41	atC/atA	0	1		UPI000013D4CD	0		ENST00000392370		ENSG00000064989	16709		47			HGNC	p.I41I		CALCRL		SNV							ENST00000409998	protein_coding			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Superfamily_domains:SSF111418,Prints_domain:PR01351		I		T		837/5155				E7EN01_HUMAN,B8ZZJ4_HUMAN				CALCRL,synonymous_variant,p.=,ENST00000409998,;CALCRL,synonymous_variant,p.=,ENST00000392370,NM_005795.5;CALCRL,synonymous_variant,p.=,ENST00000410068,NM_001271751.1;CALCRL,synonymous_variant,p.=,ENST00000447403,;CALCRL,downstream_gene_variant,,ENST00000410102,;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;CALCRL,downstream_gene_variant,,ENST00000474212,;CALCRL,downstream_gene_variant,,ENST00000461244,;CALCRL,downstream_gene_variant,,ENST00000485973,;							LOW	123/1386		CALRL_HUMAN			Transcript			.	ENSP00000376177		CCDS2293.1			1	
GALNT16	0	LGGM	GRCh37	14	69798201	69798201	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	46	23	.	.	ENST00000337827.4:c.711T>C	p.Ser237=	p.S237=	ENST00000337827	NM_020692.2	237	agT/agC	0	1	1	UPI000004D296	0		ENST00000337827		ENSG00000100626	23233		69			HGNC	p.S237S		GALNT16		SNV							ENST00000448469	protein_coding			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF3,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		S		C		1038/3141				Q68VJ8_HUMAN			YES	GALNT16,synonymous_variant,p.=,ENST00000337827,NM_020692.2,NM_001168368.1;GALNT16,synonymous_variant,p.=,ENST00000448469,;GALNT16,synonymous_variant,p.=,ENST00000553669,;GALNT16,upstream_gene_variant,,ENST00000556677,;GALNT16,synonymous_variant,p.=,ENST00000553471,;							LOW	711/1677		GLT16_HUMAN			Transcript			.	ENSP00000336729		CCDS32107.1			1	
PTGER4	0	LGGM	GRCh37	5	40681360	40681360	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	32	23	.	.	ENST00000302472.3:c.265C>T	p.Gln89Ter	p.Q89*	ENST00000302472	NM_000958.2	89	Cag/Tag	0	1	1	UPI000005042F	0	NA	ENST00000302472		ENSG00000171522	9596		55	0		HGNC	p.Q89X		PTGER4		SNV							ENST00000302472	protein_coding	getma.org/?cm=var&var=hg19,5,40681360,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00586,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF6,Superfamily_domains:SSF81321		Q/*		T	NA	1289/3848		NA		A0PJF5_HUMAN			YES	PTGER4,stop_gained,p.Gln89Ter,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,;							HIGH	265/1467	Q89*	PE2R4_HUMAN			Transcript			.	ENSP00000302846		CCDS3930.1			1	
GYPE	0	LGGM	GRCh37	4	144797983	144797983	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	59	23	.	.	ENST00000358615.4:c.162G>T	p.Ala54=	p.A54=	ENST00000358615	NM_198682.2	54	gcG/gcT	0	1	1	UPI000012B76B	0		ENST00000358615		ENSG00000197465	4705		82			HGNC	p.A54A		GYPE		SNV							ENST00000437468	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR13813,hmmpanther:PTHR13813:SF1		A		A		214/1684				Q9NRB2_HUMAN			YES	GYPE,synonymous_variant,p.=,ENST00000358615,NM_198682.2;GYPE,synonymous_variant,p.=,ENST00000437468,NM_002102.3;GYPE,intron_variant,,ENST00000506264,;							LOW	162/237		GLPE_HUMAN			Transcript			.	ENSP00000351430		CCDS47138.1			1	
POU6F2	0	LGGM	GRCh37	7	39446213	39446213	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	99	24	.	.	ENST00000403058.1:c.900A>C	p.Pro300=	p.P300=	ENST00000403058	NM_001166018.1	300	ccA/ccC	0	1	1	UPI0000480E81	0		ENST00000403058		ENSG00000106536	21694		123			HGNC	p.P292P		POU6F2		SNV			1				ENST00000520104	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636		P		C		1054/2335				H0YL15_HUMAN			YES	POU6F2,synonymous_variant,p.=,ENST00000518318,;POU6F2,synonymous_variant,p.=,ENST00000403058,NM_001166018.1,NM_007252.3;POU6F2,synonymous_variant,p.=,ENST00000520104,;POU6F2,intron_variant,,ENST00000559001,;POU6F2,intron_variant,,ENST00000524147,;POU6F2-AS1,upstream_gene_variant,,ENST00000433519,;POU6F2,upstream_gene_variant,,ENST00000416452,;							LOW	900/2076		PO6F2_HUMAN			Transcript			.	ENSP00000384004		CCDS34620.2			1	
TNR	0	LGGM	GRCh37	1	175363005	175363005	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	242	24	.	.	ENST00000367674.2:c.1267T>G	p.Phe423Val	p.F423V	ENST00000367674		423	Ttt/Gtt	0	1		UPI000013D41C	0	getma.org/pdb.php?prot=TENR_HUMAN&from=416&to=496&var=F423V	ENST00000263525		ENSG00000116147	11953		266	1.01		HGNC	p.F423V		TNR		SNV							ENST00000367674	protein_coding	getma.org/?cm=var&var=hg19,1,175363005,A,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF39,SMART_domains:SM00060,Superfamily_domains:SSF49265		F/V		C	low	1822/5190		getma.org/?cm=msa&ty=f&p=TENR_HUMAN&rb=416&re=496&var=F423V	tolerated(0.14)	A1L306_HUMAN				TNR,missense_variant,p.Phe423Val,ENST00000367674,;TNR,missense_variant,p.Phe423Val,ENST00000263525,NM_003285.2;TNR,missense_variant,p.Phe148Val,ENST00000422274,;							MODERATE	1267/4077	F423V	TENR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263525		CCDS1318.1			1	
RBBP8	0	LGGM	GRCh37	18	20573525	20573525	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	25	.	.	ENST00000399722.2:c.1735G>C	p.Glu579Gln	p.E579Q	ENST00000399722	NM_203291.1	579	Gaa/Caa	0	1		UPI000013D1A9	0	NA	ENST00000327155		ENSG00000101773	9891		58	1.995		HGNC	p.E579Q		RBBP8		SNV			1				ENST00000399721	protein_coding	getma.org/?cm=var&var=hg19,18,20573525,G,C&fts=all		hmmpanther:PTHR15107:SF2,hmmpanther:PTHR15107		E/Q		C	medium	2083/3288		getma.org/?cm=msa&ty=f&p=COM1_HUMAN&rb=540&re=739&var=E579Q	deleterious(0.01)	J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN				RBBP8,missense_variant,p.Glu579Gln,ENST00000399722,NM_203291.1;RBBP8,missense_variant,p.Glu579Gln,ENST00000327155,NM_002894.2;RBBP8,missense_variant,p.Glu579Gln,ENST00000399725,NM_203292.1;RBBP8,missense_variant,p.Glu579Gln,ENST00000360790,;RBBP8,missense_variant,p.Glu579Gln,ENST00000399721,;RBBP8,missense_variant,p.Glu27Gln,ENST00000583057,;RBBP8,downstream_gene_variant,,ENST00000577445,;RBBP8,downstream_gene_variant,,ENST00000585177,;							MODERATE	1735/2694	E579Q	COM1_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000323050		CCDS11875.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123480939	123480939	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	35	28	.	.	ENST00000529750.1:c.1383C>T	p.Tyr461=	p.Y461=	ENST00000529750	NM_020716.1	461	taC/taT	0	1	1	UPI00005C3025	0		ENST00000529750		ENSG00000023171	29214	8.64E-05	63			HGNC	p.Y461Y	rs767728499	GRAMD1B		SNV							ENST00000529750	protein_coding			hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		Y		T		1710/7723	3.00E-05						YES	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,upstream_gene_variant,,ENST00000525945,;							LOW	1383/2217		GRM1B_HUMAN			Transcript			.	ENSP00000436500	2.48E-05	CCDS53720.1			1	
DTX3L	0	LGGM	GRCh37	3	122287954	122287954	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	89	29	.	.	ENST00000296161.4:c.1018G>A	p.Glu340Lys	p.E340K	ENST00000296161	NM_138287.3	340	Gaa/Aaa	0	1	1	UPI000000D9D0	0	NA	ENST00000296161		ENSG00000163840	30323		118	1.87		HGNC	p.E340K	rs376434730,COSM376400	DTX3L	6.06E-05	SNV						0,1	ENST00000296161	protein_coding	getma.org/?cm=var&var=hg19,3,122287954,G,A&fts=all		hmmpanther:PTHR12622:SF23,hmmpanther:PTHR12622		E/K		A	low	1207/5868		getma.org/?cm=msa&ty=f&p=DTX3L_HUMAN&rb=197&re=396&var=E340K	tolerated(0.64)				YES	DTX3L,missense_variant,p.Glu340Lys,ENST00000296161,NM_138287.3;DTX3L,intron_variant,,ENST00000383661,;PARP9,upstream_gene_variant,,ENST00000462315,NM_001146106.1;PARP9,upstream_gene_variant,,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,upstream_gene_variant,,ENST00000477522,NM_001146103.1,NM_001146105.1;PARP9,upstream_gene_variant,,ENST00000471785,NM_001146104.1;PARP9,upstream_gene_variant,,ENST00000492382,;PARP9,upstream_gene_variant,,ENST00000466126,;					0,1		MODERATE	1018/2223	E340K	DTX3L_HUMAN			Transcript		benign(0.009)	.	ENSP00000296161	8.24E-06	CCDS3015.1			1	
POM121L2	0	LGGM	GRCh37	6	27278791	27278791	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	31	29	.	.	ENST00000444565.1:c.1159T>A	p.Ser387Thr	p.S387T	ENST00000444565	NM_033482.3	387	Tct/Act	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		60	2.05		HGNC	p.S387T		POM121L2		SNV							ENST00000444565	protein_coding	getma.org/?cm=var&var=hg19,6,27278791,A,T&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		S/T		T	medium	1159/3108		getma.org/?cm=msa&ty=f&p=P12L2_HUMAN&rb=1&re=969&var=S383T	tolerated(0.78)	C9J1I7_HUMAN			YES	POM121L2,missense_variant,p.Ser387Thr,ENST00000444565,NM_033482.3;POM121L2,intron_variant,,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;							MODERATE	1159/3108	S383T				Transcript		benign(0.415)	.	ENSP00000392726		CCDS59497.1			1	
LINGO2	0	LGGM	GRCh37	9	27950336	27950336	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050452	H050452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	33	30	.	.	ENST00000379992.2:c.334C>T	p.Leu112=	p.L112=	ENST00000379992	NM_152570.2	112	Cta/Tta	0	1		UPI000004C7CD	0		ENST00000308675		ENSG00000174482	21207		63			HGNC	p.L112L	rs753455318	LINGO2		SNV				9.64E-05			ENST00000379992	protein_coding			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		L		A		592/2368								LINGO2,synonymous_variant,p.=,ENST00000379992,NM_152570.2;LINGO2,synonymous_variant,p.=,ENST00000308675,;							LOW	334/1821		LIGO2_HUMAN			Transcript			.	ENSP00000310126	8.24E-06	CCDS6524.1			1	
MTHFD1L	0	LGGM	GRCh37	6	151413678	151413678	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	27	30	.	.	ENST00000367321.3:c.2923A>G	p.Lys975Glu	p.K975E	ENST00000367321	NM_001242768.1	975	Aaa/Gaa	0	1	1	UPI00001CE513	0	NA	ENST00000367321		ENSG00000120254	21055		57	0		HGNC	p.K975E		MTHFD1L		SNV							ENST00000367321	protein_coding	getma.org/?cm=var&var=hg19,6,151413678,A,G&fts=all		HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268		K/E		G	neutral	3197/3604		getma.org/?cm=msa&ty=f&p=C1TM_HUMAN&rb=359&re=978&var=K975E	tolerated(1)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN			YES	MTHFD1L,missense_variant,p.Lys975Glu,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;RP1-292B18.4,intron_variant,,ENST00000415477,;							MODERATE	2923/2937	K975E	C1TM_HUMAN			Transcript		benign(0.009)	.	ENSP00000356290		CCDS5228.1			1	
RAPH1	0	LGGM	GRCh37	2	204354442	204354442	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050452	H050452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	30	34	.	.	ENST00000319170.5:c.597T>C	p.Ala199=	p.A199=	ENST00000319170	NM_213589.1	199	gcT/gcC	0	1	1	UPI000020940F	0		ENST00000319170		ENSG00000173166	14436		64			HGNC	p.A199A		RAPH1		SNV							ENST00000319170	protein_coding			hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15		A		G		897/9808				C9JLG4_HUMAN			YES	RAPH1,synonymous_variant,p.=,ENST00000319170,NM_213589.1;RAPH1,synonymous_variant,p.=,ENST00000374493,;RAPH1,synonymous_variant,p.=,ENST00000308091,NM_203365.2;RAPH1,synonymous_variant,p.=,ENST00000374489,;RAPH1,synonymous_variant,p.=,ENST00000374488,;RAPH1,synonymous_variant,p.=,ENST00000457812,;RAPH1,synonymous_variant,p.=,ENST00000453034,;RAPH1,synonymous_variant,p.=,ENST00000423104,;RAPH1,synonymous_variant,p.=,ENST00000439222,;RAPH1,synonymous_variant,p.=,ENST00000418114,;RAPH1,synonymous_variant,p.=,ENST00000419464,;RAPH1,downstream_gene_variant,,ENST00000428637,;RAPH1,downstream_gene_variant,,ENST00000420371,;							LOW	597/3753		RAPH1_HUMAN			Transcript			.	ENSP00000316543		CCDS2359.1			1	
GLS2	0	LGGM	GRCh37	12	56868873	56868873	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	37	35	.	.	ENST00000311966.4:c.951A>G	p.Thr317=	p.T317=	ENST00000311966	NM_001280797.1	317	acA/acG	0	1	1	UPI0000061E10	0		ENST00000311966		ENSG00000135423	29570		72			HGNC	p.Q173R	rs376381453	GLS2	0.000121	SNV	C:0						ENST00000461077	protein_coding		C:0	Superfamily_domains:SSF56601,Pfam_domain:PF04960,TIGRFAM_domain:TIGR03814,Gene3D:3.40.710.10,hmmpanther:PTHR12544,hmmpanther:PTHR12544:SF29,HAMAP:MF_00313		T	C:0.0001	C		1230/2623	4.50E-05			Q0VD99_HUMAN	C:0	C:0	YES	GLS2,missense_variant,p.Gln173Arg,ENST00000461077,;GLS2,synonymous_variant,p.=,ENST00000311966,NM_001280797.1,NM_013267.3,NM_001280798.1,NM_001280796.1;SPRYD4,downstream_gene_variant,,ENST00000338146,NM_207344.3;GLS2,downstream_gene_variant,,ENST00000539272,;GLS2,non_coding_transcript_exon_variant,,ENST00000476991,;GLS2,3_prime_UTR_variant,,ENST00000486433,;GLS2,3_prime_UTR_variant,,ENST00000424141,;GLS2,3_prime_UTR_variant,,ENST00000486896,;GLS2,3_prime_UTR_variant,,ENST00000494474,;GLS2,non_coding_transcript_exon_variant,,ENST00000496006,;GLS2,intron_variant,,ENST00000479952,;GLS2,upstream_gene_variant,,ENST00000390288,;GLS2,downstream_gene_variant,,ENST00000494345,;GLS2,downstream_gene_variant,,ENST00000471282,;GLS2,downstream_gene_variant,,ENST00000483347,;GLS2,downstream_gene_variant,,ENST00000491880,;		C:0.0002					LOW	951/1809		GLSL_HUMAN		C:0	Transcript			.	ENSP00000310447	4.12E-05	CCDS8921.1		C:0.001	1	
GALNT13	0	LGGM	GRCh37	2	155158011	155158011	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050452	H050452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	31	41	.	.	ENST00000392825.3:c.1065T>C	p.Gly355=	p.G355=	ENST00000392825	NM_052917.2	355	ggT/ggC	0	1	1	UPI0000051E22	0		ENST00000392825		ENSG00000144278	23242		72			HGNC	p.G355G		GALNT13		SNV							ENST00000409237	protein_coding			Superfamily_domains:SSF53448,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21		G		C		1632/5536				Q68VI8_HUMAN			YES	GALNT13,synonymous_variant,p.=,ENST00000392825,NM_052917.2;GALNT13,synonymous_variant,p.=,ENST00000409237,;GALNT13,upstream_gene_variant,,ENST00000450838,;GALNT13,non_coding_transcript_exon_variant,,ENST00000487047,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;							LOW	1065/1671		GLT13_HUMAN			Transcript			.	ENSP00000376570		CCDS2199.1			1	
CENPF	0	LGGM	GRCh37	1	214816185	214816185	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	16	43	.	.	ENST00000366955.3:c.4504C>A	p.Gln1502Lys	p.Q1502K	ENST00000366955	NM_016343.3	1502	Cag/Aag	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		59	1.04		HGNC	p.Q1502K		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214816185,C,A&fts=all		hmmpanther:PTHR18874		Q/K		A	low	4672/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=1489&re=1688&var=Q1598K					YES	CENPF,missense_variant,p.Gln1502Lys,ENST00000366955,NM_016343.3;							MODERATE	4504/9345	Q1598K	CENPF_HUMAN			Transcript		benign(0.116)	.	ENSP00000355922		CCDS31023.1			1	
ERC2	0	LGGM	GRCh37	3	56330254	56330254	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050452	H050452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050452N.bam, H050452T.bam	Illumina HiSeq	94	115	.	.	ENST00000288221.6:c.867G>T	p.Leu289=	p.L289=	ENST00000288221	NM_015576.1	289	ctG/ctT	0	1	1	UPI00001C1572	0		ENST00000288221		ENSG00000187672	31922		209			HGNC	p.L289L		ERC2		SNV							ENST00000288221	protein_coding			Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3		L		A		1123/6138							YES	ERC2,synonymous_variant,p.=,ENST00000288221,NM_015576.1;ERC2,synonymous_variant,p.=,ENST00000460849,;							LOW	867/2874		ERC2_HUMAN			Transcript			.	ENSP00000288221		CCDS46851.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123448267	123448267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	2	2	.	.	ENST00000529750.1:c.216C>A	p.Ser72Arg	p.S72R	ENST00000529750	NM_020716.1	72	agC/agA	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		4	0.345		HGNC	p.S72R		GRAMD1B		SNV							ENST00000529750	protein_coding	getma.org/?cm=var&var=hg19,11,123448267,C,A&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3,Low_complexity_(Seg):seg		S/R		A	neutral	543/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=1&re=95&var=S72R	tolerated(0.19)				YES	GRAMD1B,missense_variant,p.Ser72Arg,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Ser32Arg,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Ser72Arg,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Ser72Arg,ENST00000322282,;GRAMD1B,missense_variant,p.Ser68Arg,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;							MODERATE	216/2217	S72R	GRM1B_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000436500		CCDS53720.1			1	
PCSK1	0	LGGM	GRCh37	5	95759068	95759068	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	17	3	.	.	ENST00000311106.3:c.492C>A	p.Thr164=	p.T164=	ENST00000311106	NM_000439.4	164	acC/acA	0	1	1	UPI000013F0F5	0		ENST00000311106		ENSG00000175426	8743		20			HGNC	p.T164T		PCSK1		SNV			1				ENST00000311106	protein_coding			hmmpanther:PTHR10795:SF343,hmmpanther:PTHR10795,PROSITE_patterns:PS00136,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743,Prints_domain:PR00723		T		T		730/5086				D6RJA3_HUMAN			YES	PCSK1,synonymous_variant,p.=,ENST00000311106,NM_000439.4,NM_001177876.1;PCSK1,synonymous_variant,p.=,ENST00000508626,NM_001177875.1;PCSK1,downstream_gene_variant,,ENST00000509190,;CTD-2337A12.1,intron_variant,,ENST00000502645,;							LOW	492/2262		NEC1_HUMAN			Transcript			.	ENSP00000308024		CCDS4081.1			1	
DDX24	0	LGGM	GRCh37	14	94517609	94517609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	43	3	.	.	ENST00000330836.5:c.2508G>T	p.Gln836His	p.Q836H	ENST00000330836	NM_020414.3	836	caG/caT	0	1	1	UPI0000129082	0	NA	ENST00000330836		ENSG00000089737	13266		46	1.59		HGNC	p.Q793H		DDX24		SNV							ENST00000555054	protein_coding	getma.org/?cm=var&var=hg19,14,94517609,C,A&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF91,Low_complexity_(Seg):seg		Q/H		A	low	2640/2981		getma.org/?cm=msa&ty=f&p=DDX24_HUMAN&rb=683&re=859&var=Q836H	tolerated(0.05)	G3V529_HUMAN,F5GYL3_HUMAN			YES	DDX24,missense_variant,p.Gln836His,ENST00000330836,NM_020414.3;DDX24,missense_variant,p.Gln793His,ENST00000555054,;DDX24,missense_variant,p.Gln586His,ENST00000544005,;OTUB2,downstream_gene_variant,,ENST00000203664,NM_023112.3;DDX24,splice_region_variant,,ENST00000553451,;DDX24,non_coding_transcript_exon_variant,,ENST00000553400,;DDX24,non_coding_transcript_exon_variant,,ENST00000555762,;DDX24,non_coding_transcript_exon_variant,,ENST00000556635,;							MODERATE	2508/2580	Q836H	DDX24_HUMAN			Transcript		unknown(0)	.	ENSP00000328690		CCDS9918.1			1	
PCDHB8	0	LGGM	GRCh37	5	140559475	140559475	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	41	3	.	.	ENST00000239444.2:c.1860G>A	p.Ala620=	p.A620=	ENST00000239444	NM_019120.3	620	gcG/gcA	0	1	1	UPI000013CA80	0		ENST00000239444		ENSG00000120322	8693		44			HGNC	p.A620A		PCDHB8		SNV							ENST00000239444	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313		A		A		2105/2711							YES	PCDHB8,synonymous_variant,p.=,ENST00000239444,NM_019120.3;PCDHB16,upstream_gene_variant,,ENST00000361016,NM_020957.1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.2;							LOW	1860/2406		PCDB8_HUMAN			Transcript			.	ENSP00000239444		CCDS4250.1			1	
DRD2	0	LGGM	GRCh37	11	113283449	113283449	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	23	3	.	.	ENST00000362072.3:c.967G>A	p.Ala323Thr	p.A323T	ENST00000362072	NM_000795.3	323	Gcc/Acc	0	1	1	UPI0000001315	0	getma.org/pdb.php?prot=DRD2_HUMAN&from=51&to=426&var=A323T	ENST00000362072		ENSG00000149295	3023		26	0.94		HGNC	p.A322T	rs527942874	DRD2	6.06E-05	SNV			1				ENST00000544518	protein_coding	getma.org/?cm=var&var=hg19,11,113283449,C,T&fts=all		Pfam_domain:PF00001,Prints_domain:PR00567,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68		A/T		T	low	1312/2789	1.50E-05	getma.org/?cm=msa&ty=f&p=DRD2_HUMAN&rb=51&re=426&var=A323T	tolerated(0.57)	Q6LDH7_HUMAN			YES	DRD2,missense_variant,p.Ala323Thr,ENST00000362072,NM_000795.3;DRD2,missense_variant,p.Ala325Thr,ENST00000355319,;DRD2,missense_variant,p.Ala322Thr,ENST00000544518,;DRD2,missense_variant,p.Ala323Thr,ENST00000542968,;DRD2,missense_variant,p.Ala294Thr,ENST00000346454,NM_016574.3;DRD2,missense_variant,p.Ala325Thr,ENST00000538967,;DRD2,downstream_gene_variant,,ENST00000543292,;RP11-159N11.3,downstream_gene_variant,,ENST00000546284,;DRD2,downstream_gene_variant,,ENST00000535984,;DRD2,downstream_gene_variant,,ENST00000540600,;DRD2,downstream_gene_variant,,ENST00000539420,;							MODERATE	967/1332	A323T	DRD2_HUMAN			Transcript		benign(0.004)	.	ENSP00000354859	1.65E-05	CCDS8361.1			1	
NPNT	0	LGGM	GRCh37	4	106819092	106819092	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	15	3	.	.	ENST00000427316.2:c.106T>C	p.Cys36Arg	p.C36R	ENST00000427316	NM_001184691.1	36	Tgt/Cgt	0	1		UPI00001612DF	0	NA	ENST00000379987		ENSG00000168743	27405		18	3.96		HGNC	p.C36R		NPNT		SNV							ENST00000379987	protein_coding	getma.org/?cm=var&var=hg19,4,106819092,T,C&fts=all		hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF19		C/R		C	high	322/4598		getma.org/?cm=msa&ty=f&p=NPNT_HUMAN&rb=1&re=88&var=C36R	deleterious(0)	D6RE63_HUMAN				NPNT,missense_variant,p.Cys36Arg,ENST00000379987,NM_001033047.2;NPNT,missense_variant,p.Cys36Arg,ENST00000305572,NM_001184692.1;NPNT,missense_variant,p.Cys36Arg,ENST00000427316,NM_001184691.1;NPNT,missense_variant,p.Cys36Arg,ENST00000453617,NM_001184690.1;NPNT,missense_variant,p.Cys36Arg,ENST00000514622,;NPNT,missense_variant,p.Cys36Arg,ENST00000506666,NM_001184693.1;NPNT,missense_variant,p.Cys36Arg,ENST00000503451,;NPNT,missense_variant,p.Cys13Arg,ENST00000514837,;NPNT,5_prime_UTR_variant,,ENST00000504304,;INTS12,upstream_gene_variant,,ENST00000510876,;NPNT,upstream_gene_variant,,ENST00000513430,;							MODERATE	106/1698	C36R	NPNT_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000369323		CCDS34046.1			1	
CTSV	0	LGGM	GRCh37	9	99798810	99798810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	42	3	.	.	ENST00000259470.5:c.616G>T	p.Ala206Ser	p.A206S	ENST00000259470	NM_001333.3	206	Gca/Tca	0	1	1	UPI0000001C15	0	getma.org/pdb.php?prot=CATL2_HUMAN&from=114&to=333&var=A206S	ENST00000259470		ENSG00000136943	2538		45	2.085		HGNC	p.A206S		CTSV		SNV							ENST00000538255	protein_coding	getma.org/?cm=var&var=hg19,9,99798810,C,A&fts=all		Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF306,SMART_domains:SM00645,Superfamily_domains:SSF54001		A/S		A	medium	866/1546		getma.org/?cm=msa&ty=f&p=CATL2_HUMAN&rb=114&re=333&var=A206S	deleterious(0.02)				YES	CTSV,missense_variant,p.Ala206Ser,ENST00000259470,NM_001333.3;CTSV,missense_variant,p.Ala206Ser,ENST00000538255,NM_001201575.1;CTSV,downstream_gene_variant,,ENST00000479932,;							MODERATE	616/1005	A206S	CATL2_HUMAN			Transcript		possibly_damaging(0.496)	.	ENSP00000259470		CCDS6723.1			1	
SH3PXD2A	0	LGGM	GRCh37	10	105386882	105386882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	42	3	.	.	ENST00000355946.2:c.682G>T	p.Asp228Tyr	p.D228Y	ENST00000355946	NM_014631.2	228	Gat/Tat	0	1		UPI000046FCE8	0	NA	ENST00000369774		ENSG00000107957	23664		45	0.55		HGNC	p.D90Y		SH3PXD2A		SNV							ENST00000427662	protein_coding	getma.org/?cm=var&var=hg19,10,105386882,C,A&fts=all		hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7		D/Y		A	neutral	959/11468		getma.org/?cm=msa&ty=f&p=SPD2A_HUMAN&rb=218&re=269&var=D228Y	deleterious(0)	F5GZ35_HUMAN				SH3PXD2A,missense_variant,p.Asp228Tyr,ENST00000369774,;SH3PXD2A,missense_variant,p.Asp228Tyr,ENST00000355946,NM_014631.2;SH3PXD2A,missense_variant,p.Asp183Tyr,ENST00000420222,;SH3PXD2A,missense_variant,p.Asp95Tyr,ENST00000540321,;SH3PXD2A,missense_variant,p.Asp63Tyr,ENST00000538130,;SH3PXD2A,missense_variant,p.Asp90Tyr,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;							MODERATE	682/3402	D228Y	SPD2A_HUMAN			Transcript		possibly_damaging(0.489)	.	ENSP00000358789					1	
HYDIN	0	LGGM	GRCh37	16	70935066	70935066	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	41	3	.	.	ENST00000393567.2:c.8889C>A	p.Leu2963=	p.L2963=	ENST00000393567	NM_001270974.1	2963	ctC/ctA	0	1	1	UPI0001FEF4F9	0		ENST00000393567		ENSG00000157423	19368		44			HGNC	p.L2962L		HYDIN		SNV			1				ENST00000316490	protein_coding			Pfam_domain:PF14874,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		L		T		9040/15719				K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,synonymous_variant,p.=,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;							LOW	8889/15366		HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
APOBEC3A	0	LGGM	GRCh37	22	39355547	39355547	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	30	3	.	.	ENST00000402255.1:c.30A>G	p.Arg10=	p.R10=	ENST00000402255		10	agA/agG	0	1		UPI00001318F4	0		ENST00000249116		ENSG00000128383	17343		33			HGNC	p.R10R	rs779826674	APOBEC3A		SNV							ENST00000402255	protein_coding			hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF14		R		G		200/1444	1.50E-05							APOBEC3A,splice_region_variant,p.=,ENST00000402255,;APOBEC3A,splice_region_variant,p.=,ENST00000249116,NM_145699.3,NM_001270406.1;APOBEC3A,splice_region_variant,,ENST00000488758,;							LOW	30/600		ABC3A_HUMAN			Transcript			.	ENSP00000249116	8.24E-06	CCDS13981.1			1	
SUPT20H	0	LGGM	GRCh37	13	37619444	37619444	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	38	3	.	.	ENST00000350612.6:c.232G>T	p.Val78Phe	p.V78F	ENST00000350612	NM_001014286.2	78	Gtc/Ttc	0	1	1	UPI00004566E3	0	NA	ENST00000350612		ENSG00000102710	20596		41	2.67		HGNC	p.V79F	rs775725012	SUPT20H		SNV							ENST00000356185	protein_coding	getma.org/?cm=var&var=hg19,13,37619444,C,A&fts=all		hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3,Pfam_domain:PF12090		V/F		A	medium	453/2739		getma.org/?cm=msa&ty=f&p=FA48A_HUMAN&rb=59&re=227&var=V78F	deleterious(0)				YES	SUPT20H,missense_variant,p.Val79Phe,ENST00000360252,NM_001278481.1,NM_017569.3;SUPT20H,missense_variant,p.Val78Phe,ENST00000475892,NM_001278480.1;SUPT20H,missense_variant,p.Val78Phe,ENST00000350612,NM_001014286.2;SUPT20H,missense_variant,p.Val79Phe,ENST00000356185,;SUPT20H,missense_variant,p.Val79Phe,ENST00000464744,NM_001278482.1;SUPT20H,missense_variant,p.Val66Phe,ENST00000542180,;SUPT20H,missense_variant,p.Val79Phe,ENST00000497318,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000470359,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000476109,;SUPT20H,intron_variant,,ENST00000483241,;SUPT20H,missense_variant,p.Val66Phe,ENST00000490716,;SUPT20H,missense_variant,p.Val66Phe,ENST00000495071,;SUPT20H,non_coding_transcript_exon_variant,,ENST00000493537,;SUPT20H,intron_variant,,ENST00000464572,;SUPT20H,downstream_gene_variant,,ENST00000471868,;	0.000116						MODERATE	232/2340	V78F	SP20H_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000218894	8.24E-06	CCDS31959.1			1	
PKP1	0	LGGM	GRCh37	1	201252983	201252983	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	30	3	.	.	ENST00000263946.3:c.153G>A	p.Arg51=	p.R51=	ENST00000263946	NM_000299.3	51	cgG/cgA	0	1	1	UPI0000131B86	0		ENST00000263946		ENSG00000081277	9023		33			HGNC	p.R51R		PKP1		SNV			1				ENST00000352845	protein_coding			hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3		R		A		404/5447				B4DRX5_HUMAN			YES	PKP1,synonymous_variant,p.=,ENST00000263946,NM_000299.3;PKP1,synonymous_variant,p.=,ENST00000367324,NM_001005337.2;PKP1,synonymous_variant,p.=,ENST00000352845,;							LOW	153/2244		PKP1_HUMAN			Transcript			.	ENSP00000263946		CCDS30966.1			1	
NLRC5	0	LGGM	GRCh37	16	57060297	57060297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	36	3	.	.	ENST00000262510.6:c.1442C>A	p.Ala481Asp	p.A481D	ENST00000262510	NM_032206.4	481	gCt/gAt	0	1	1	UPI00001AEE94	0	NA	ENST00000262510		ENSG00000140853	29933		39	-0.145		HGNC	p.A481D		NLRC5		SNV							ENST00000308149	protein_coding	getma.org/?cm=var&var=hg19,16,57060297,C,A&fts=all		hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106		A/D		A	neutral	1667/6822		getma.org/?cm=msa&ty=f&p=NLRC5_HUMAN&rb=222&re=539&var=A481D	deleterious(0)	F5H274_HUMAN,F5GYP0_HUMAN			YES	NLRC5,missense_variant,p.Ala481Asp,ENST00000436936,;NLRC5,missense_variant,p.Ala481Asp,ENST00000262510,NM_032206.4;NLRC5,missense_variant,p.Ala481Asp,ENST00000308149,;NLRC5,missense_variant,p.Ala481Asp,ENST00000539144,;NLRC5,missense_variant,p.Ala234Asp,ENST00000538805,;NLRC5,upstream_gene_variant,,ENST00000538110,;NLRC5,upstream_gene_variant,,ENST00000543030,;NLRC5,missense_variant,p.Ala209Asp,ENST00000545081,;NLRC5,missense_variant,p.Ala481Asp,ENST00000539881,;NLRC5,upstream_gene_variant,,ENST00000536231,;							MODERATE	1442/5601	A481D	NLRC5_HUMAN			Transcript		benign(0.039)	.	ENSP00000262510		CCDS10773.1			1	
AC002472.13	0	LGGM	GRCh37	22	21414716	21414716	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	24	3	.	.	ENST00000342608.4:c.1075C>A	p.Leu359Ile	p.L359I	ENST00000342608		359	Ctt/Att	0	1		UPI0001610FC2	0		ENST00000442047		ENSG00000187905			27			Clone_based_vega_gene	p.L359I		AC002472.13		SNV							ENST00000342608	protein_coding			hmmpanther:PTHR24114:SF16,hmmpanther:PTHR24114		L/I		A		1078/1098			deleterious(0.05)	C9JK49_HUMAN				AC002472.13,missense_variant,p.Leu359Ile,ENST00000342608,;AC002472.13,missense_variant,p.Leu360Ile,ENST00000442047,;AC002472.13,3_prime_UTR_variant,,ENST00000543388,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000497328,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000473769,;AC002472.13,downstream_gene_variant,,ENST00000469766,;							MODERATE	1078/1098					Transcript		benign(0.378)	.	ENSP00000394078					1	
BLTP1	0	LGGM	GRCh37	4	123246842	123246842	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	8	3	.	.	ENST00000264501.4:c.10995+367A>T		*3665*	ENST00000264501				0	1	1	UPI0000DD87B4	0		ENST00000264501		ENSG00000138688	26953		11			HGNC	p.I3666I		KIAA1109		SNV							ENST00000455637	protein_coding							T		-/15896				B3KN93_HUMAN			YES	KIAA1109,splice_region_variant,p.=,ENST00000455637,;KIAA1109,splice_region_variant,p.=,ENST00000419325,;KIAA1109,intron_variant,,ENST00000264501,;KIAA1109,intron_variant,,ENST00000388738,NM_015312.3;KIAA1109,intron_variant,,ENST00000438707,;KIAA1109,intron_variant,,ENST00000306802,;KIAA1109,upstream_gene_variant,,ENST00000480651,;							MODIFIER	-/15018		K1109_HUMAN			Transcript			.	ENSP00000264501		CCDS43267.1			1	
RANBP6	0	LGGM	GRCh37	9	6014550	6014550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	41	3	.	.	ENST00000259569.5:c.1058G>T	p.Arg353Ile	p.R353I	ENST00000259569	NM_012416.3	353	aGa/aTa	0	1	1	UPI000013D061	0	NA	ENST00000259569		ENSG00000137040	9851		44	3.155		HGNC	p.R353I		RANBP6		SNV							ENST00000259569	protein_coding	getma.org/?cm=var&var=hg19,9,6014550,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527		R/I		A	medium	1069/4576		getma.org/?cm=msa&ty=f&p=RNBP6_HUMAN&rb=201&re=366&var=R353I	deleterious(0)	B4E340_HUMAN			YES	RANBP6,missense_variant,p.Arg353Ile,ENST00000259569,NM_012416.3,NM_001243203.1,NM_001243202.1;RANBP6,intron_variant,,ENST00000485372,;							MODERATE	1058/3318	R353I	RNBP6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000259569		CCDS6467.1			1	
POLR2H	0	LGGM	GRCh37	3	184081330	184081330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	23	3	.	.	ENST00000456318.1:c.50C>A	p.Pro17Gln	p.P17Q	ENST00000456318		17	cCg/cAg	0	1	1	UPI0000021AB9	0	getma.org/pdb.php?prot=RPAB3_HUMAN&from=7&to=147&var=P17Q	ENST00000456318		ENSG00000163882	9195		26	2.165		HGNC	p.P17Q		POLR2H		SNV							ENST00000456318	protein_coding	getma.org/?cm=var&var=hg19,3,184081330,C,A&fts=all		hmmpanther:PTHR10917:SF0,hmmpanther:PTHR10917,Pfam_domain:PF03870,Gene3D:2.40.50.140,PIRSF_domain:PIRSF000779,SMART_domains:SM00658,Superfamily_domains:SSF50249		P/Q		A	medium	1099/1802		getma.org/?cm=msa&ty=f&p=RPAB3_HUMAN&rb=7&re=147&var=P17Q	deleterious(0.02)	C9JLU1_HUMAN,C9JBJ6_HUMAN			YES	POLR2H,missense_variant,p.Pro17Gln,ENST00000456318,;POLR2H,missense_variant,p.Pro17Gln,ENST00000430783,NM_001278715.1,NM_001278714.1;POLR2H,missense_variant,p.Pro17Gln,ENST00000429568,NM_001278698.1;POLR2H,missense_variant,p.Pro17Gln,ENST00000455712,;POLR2H,missense_variant,p.Pro17Gln,ENST00000296223,NM_006232.3,NM_001278699.1;POLR2H,5_prime_UTR_variant,,ENST00000443489,;POLR2H,5_prime_UTR_variant,,ENST00000452961,;EIF2B5,intron_variant,,ENST00000444495,;POLR2H,intron_variant,,ENST00000438240,NM_001278700.1;CLCN2,upstream_gene_variant,,ENST00000265593,NM_004366.5;CLCN2,upstream_gene_variant,,ENST00000344937,NM_001171087.2;CLCN2,upstream_gene_variant,,ENST00000423355,;CLCN2,upstream_gene_variant,,ENST00000434054,NM_001171088.2;CLCN2,upstream_gene_variant,,ENST00000457512,NM_001171089.2;POLR2H,downstream_gene_variant,,ENST00000412877,;POLR2H,downstream_gene_variant,,ENST00000460083,;CLCN2,upstream_gene_variant,,ENST00000485667,;POLR2H,upstream_gene_variant,,ENST00000488213,;POLR2H,upstream_gene_variant,,ENST00000476003,;CLCN2,upstream_gene_variant,,ENST00000465231,;POLR2H,upstream_gene_variant,,ENST00000490958,;POLR2H,upstream_gene_variant,,ENST00000489043,;							MODERATE	50/453	P17Q	RPAB3_HUMAN			Transcript		possibly_damaging(0.683)	.	ENSP00000392913		CCDS3264.1			1	
ANKRD17	0	LGGM	GRCh37	4	74027065	74027065	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	37	4	.	.	ENST00000358602.4:c.548G>T	p.Gly183Val	p.G183V	ENST00000358602	NM_032217.3	183	gGa/gTa	0	1	1	UPI00002263B0	0	NA	ENST00000358602		ENSG00000132466	23575		41	1.7		HGNC	p.G183V		ANKRD17		SNV							ENST00000358602	protein_coding	getma.org/?cm=var&var=hg19,4,74027065,C,A&fts=all		hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206		G/V		A	low	665/10784		getma.org/?cm=msa&ty=f&p=ANR17_HUMAN&rb=120&re=294&var=G183V					YES	ANKRD17,missense_variant,p.Gly183Val,ENST00000358602,NM_032217.3;ANKRD17,missense_variant,p.Gly68Val,ENST00000558247,;ANKRD17,missense_variant,p.Gly70Val,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Gly183Val,ENST00000330838,NM_198889.1;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,splice_region_variant,,ENST00000559367,;ANKRD17,coding_sequence_variant,p.=,ENST00000560372,;							MODERATE	548/7812	G183V	ANR17_HUMAN			Transcript		benign(0.354)	.	ENSP00000351416		CCDS34004.1			1	
BIN2	0	LGGM	GRCh37	12	51693037	51693037	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	40	4	.	.	ENST00000267012.4:c.552T>A	p.Phe184Leu	p.F184L	ENST00000267012	NM_016293.2	184	ttT/ttA	0	1	1	UPI000013D71F	0	getma.org/pdb.php?prot=BIN2_HUMAN&from=17&to=237&var=F184L	ENST00000267012		ENSG00000110934	1053		44	2.125		HGNC	p.F158L		BIN2		SNV							ENST00000544402	protein_coding	getma.org/?cm=var&var=hg19,12,51693037,A,T&fts=all		Gene3D:1.20.1270.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03114,Prints_domain:PR01251,PROSITE_profiles:PS51021,hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF11,SMART_domains:SM00721,Superfamily_domains:SSF103657		F/L		T	medium	614/2221		getma.org/?cm=msa&ty=f&p=BIN2_HUMAN&rb=17&re=237&var=F184L	deleterious(0.01)				YES	BIN2,missense_variant,p.Phe184Leu,ENST00000267012,NM_016293.2;BIN2,missense_variant,p.Phe152Leu,ENST00000452142,;BIN2,missense_variant,p.Phe157Leu,ENST00000604560,;BIN2,missense_variant,p.Phe158Leu,ENST00000544402,;BIN2,non_coding_transcript_exon_variant,,ENST00000605039,;BIN2,upstream_gene_variant,,ENST00000605819,;BIN2,upstream_gene_variant,,ENST00000603177,;BIN2,downstream_gene_variant,,ENST00000605423,;							MODERATE	552/1698	F184L	BIN2_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000267012		CCDS8811.1			1	
HOXA3	0	LGGM	GRCh37	7	27149849	27149849	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	28	4	.	.	ENST00000396352.4:c.411T>A	p.Pro137=	p.P137=	ENST00000396352	NM_030661.4	137	ccT/ccA	0	1		UPI000012CF22	0		ENST00000317201		ENSG00000105997	5104		32			HGNC	p.P137P		HOXA3		SNV							ENST00000317201	protein_coding			Prints_domain:PR01217,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF137,Low_complexity_(Seg):seg		P		T		750/2574				F2Z3A4_HUMAN,E5RIJ8_HUMAN,A4D182_HUMAN				HOXA3,synonymous_variant,p.=,ENST00000396352,NM_030661.4;HOXA3,synonymous_variant,p.=,ENST00000317201,NM_153631.2;HOXA3,downstream_gene_variant,,ENST00000522788,;HOXA3,downstream_gene_variant,,ENST00000521779,;HOXA3,downstream_gene_variant,,ENST00000522456,;HOXA-AS2,intron_variant,,ENST00000518088,;HOXA-AS2,upstream_gene_variant,,ENST00000522193,;HOXA3,downstream_gene_variant,,ENST00000521401,;							LOW	411/1332		HXA3_HUMAN			Transcript			.	ENSP00000324884		CCDS5404.1			1	
INTS3	0	LGGM	GRCh37	1	153743199	153743199	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	38	4	.	.	ENST00000318967.2:c.2542C>T	p.Arg848Ter	p.R848*	ENST00000318967	NM_023015.3	848	Cga/Tga	0	1	1	UPI0000231CA8	0	NA	ENST00000318967		ENSG00000143624	26153	8.73E-05	42	0		HGNC	p.R848X	rs775690732	INTS3		SNV							ENST00000318967	protein_coding	getma.org/?cm=var&var=hg19,1,153743199,C,T&fts=all		hmmpanther:PTHR13587		R/*		T	NA	3110/4506		NA					YES	INTS3,stop_gained,p.Arg642Ter,ENST00000456435,;INTS3,stop_gained,p.Arg848Ter,ENST00000318967,NM_023015.3;INTS3,stop_gained,p.Arg848Ter,ENST00000435409,;INTS3,stop_gained,p.Arg642Ter,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000271857,;SLC27A3,upstream_gene_variant,,ENST00000368661,NM_024330.1;INTS3,non_coding_transcript_exon_variant,,ENST00000476843,;SLC27A3,upstream_gene_variant,,ENST00000484014,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;INTS3,non_coding_transcript_exon_variant,,ENST00000368670,;INTS3,non_coding_transcript_exon_variant,,ENST00000368669,;SLC27A3,upstream_gene_variant,,ENST00000468403,;							HIGH	2542/3129	R849*	INT3_HUMAN			Transcript			.	ENSP00000318641	8.24E-06	CCDS1052.1			1	
RAPGEF4	0	LGGM	GRCh37	2	173832110	173832110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	7	4	.	.	ENST00000397081.3:c.942C>A	p.Asp314Glu	p.D314E	ENST00000397081	NM_007023.3	314	gaC/gaA	0	1	1	UPI000006D4C7	0	getma.org/pdb.php?prot=RPGF4_HUMAN&from=290&to=374&var=D314E	ENST00000397081		ENSG00000091428	16626		11	-0.015		HGNC	p.D170E		RAPGEF4		SNV							ENST00000397087	protein_coding	getma.org/?cm=var&var=hg19,2,173832110,C,A&fts=all		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:1.10.10.10,Superfamily_domains:SSF46785		D/E		A	neutral	1085/4299		getma.org/?cm=msa&ty=f&p=RPGF4_HUMAN&rb=290&re=374&var=D314E	tolerated(1)	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN			YES	RAPGEF4,missense_variant,p.Asp313Glu,ENST00000264111,;RAPGEF4,missense_variant,p.Asp314Glu,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Asp170Glu,ENST00000397087,NM_001100397.1,NM_001282899.1,NM_001282901.1;RAPGEF4,missense_variant,p.Asp314Glu,ENST00000409036,;RAPGEF4,missense_variant,p.Asp161Glu,ENST00000540783,;RAPGEF4,missense_variant,p.Asp161Glu,ENST00000539331,;RAPGEF4,missense_variant,p.Asp143Glu,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Asp94Glu,ENST00000535187,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000459852,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000466030,;RAPGEF4,downstream_gene_variant,,ENST00000473003,;RAPGEF4,downstream_gene_variant,,ENST00000473182,;							MODERATE	942/3036	D314E	RPGF4_HUMAN			Transcript		benign(0.036)	.	ENSP00000380271		CCDS42775.1			1	
NUP98	0	LGGM	GRCh37	11	3700911	3700911	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	31	4	.	.	ENST00000324932.7:c.4946A>T	p.Tyr1649Phe	p.Y1649F	ENST00000324932	NM_139132.3	1649	tAc/tTc	0	1		UPI00015DFF4D	0	NA	ENST00000359171		ENSG00000110713	8068		35	2.415		HGNC	p.Y1575F		NUP98		SNV							ENST00000355260	protein_coding	getma.org/?cm=var&var=hg19,11,3700911,T,A&fts=all		hmmpanther:PTHR23198:SF0,hmmpanther:PTHR23198		Y/F		A	medium	5145/6770		getma.org/?cm=msa&ty=f&p=NUP98_HUMAN&rb=1629&re=1817&var=Y1666F	deleterious(0.04)	Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,missense_variant,p.Tyr1649Phe,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,missense_variant,p.Tyr1575Phe,ENST00000359171,;NUP98,missense_variant,p.Tyr1575Phe,ENST00000355260,;NUP98,missense_variant,p.Tyr602Phe,ENST00000429801,;NUP98,missense_variant,p.Tyr3Phe,ENST00000533346,;NUP98,3_prime_UTR_variant,,ENST00000524563,;NUP98,non_coding_transcript_exon_variant,,ENST00000469881,;NUP98,upstream_gene_variant,,ENST00000482690,;							MODERATE	4724/4917	Y1666F				Transcript		probably_damaging(0.995)	.	ENSP00000352091					1	
MYO9B	0	LGGM	GRCh37	19	17313080	17313080	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	13	4	.	.	ENST00000595618.1:c.4804G>A	p.Gly1602Ser	p.G1602S	ENST00000595618	NM_001130065.1	1602	Ggc/Agc	0	1		UPI0002A47676	0	NA	ENST00000594824		ENSG00000099331	7609		17	1.095		HGNC	p.G1602S		MYO9B		SNV			1				ENST00000595618	protein_coding	getma.org/?cm=var&var=hg19,19,17313080,G,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306		G/S		A	low	4951/7595		getma.org/?cm=msa&ty=f&p=MYO9B_HUMAN&rb=1446&re=1645&var=G1602S	tolerated(0.18)	M0R0P8_HUMAN				MYO9B,missense_variant,p.Gly1602Ser,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,missense_variant,p.Gly1602Ser,ENST00000594824,;MYO9B,missense_variant,p.Gly1602Ser,ENST00000397274,;MYO9B,missense_variant,p.Gly1602Ser,ENST00000595641,;MYO9B,upstream_gene_variant,,ENST00000597073,;MYO9B,upstream_gene_variant,,ENST00000596942,;MYO9B,upstream_gene_variant,,ENST00000598419,;CTD-3032J10.3,downstream_gene_variant,,ENST00000601929,;MYO9B,non_coding_transcript_exon_variant,,ENST00000593533,;MYO9B,non_coding_transcript_exon_variant,,ENST00000599420,;MYO9B,upstream_gene_variant,,ENST00000602158,;							MODERATE	4804/6474	G1602S				Transcript		benign(0.077)	.	ENSP00000471367					1	
NYAP2	0	LGGM	GRCh37	2	226447663	226447663	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	22	4	.	.	ENST00000272907.6:c.1530G>A	p.Pro510=	p.P510=	ENST00000272907	NM_020864.1	510	ccG/ccA	0	1	1	UPI00001C1DB6	0		ENST00000272907		ENSG00000144460	29291		26			HGNC	p.P510P	rs558213296,COSM1531093	NYAP2		SNV						0,1	ENST00000272907	protein_coding			hmmpanther:PTHR22633		P		A		1943/4828							YES	NYAP2,synonymous_variant,p.=,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;					0,1		LOW	1530/1962		NYAP2_HUMAN			Transcript			.	ENSP00000272907		CCDS46529.1			1	
POTEC	0	LGGM	GRCh37	18	14513692	14513692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	55	5	.	.	ENST00000358970.5:c.1502T>A	p.Ile501Lys	p.I501K	ENST00000358970	NM_001137671.1	501	aTa/aAa	0	1	1	UPI0000197B83	0	NA	ENST00000358970		ENSG00000183206	33894		60	1.7		HGNC	p.I501K		POTEC		SNV							ENST00000358970	protein_coding	getma.org/?cm=var&var=hg19,18,14513692,A,T&fts=all		hmmpanther:PTHR24118:SF38,hmmpanther:PTHR24118		I/K		T	low	1502/1629		getma.org/?cm=msa&ty=f&p=POTEC_HUMAN&rb=472&re=534&var=I501K	deleterious(0.04)				YES	POTEC,missense_variant,p.Ile501Lys,ENST00000358970,NM_001137671.1;POTEC,3_prime_UTR_variant,,ENST00000511306,;							MODERATE	1502/1629	I501K	POTEC_HUMAN			Transcript		benign(0.04)	.	ENSP00000351856		CCDS45835.1			1	
HECTD4	0	LGGM	GRCh37	12	112622498	112622498	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	63	5	.	.	ENST00000550722.1:c.9834C>T	p.His3278=	p.H3278=	ENST00000550722	NM_001109662.3	3278	caC/caT	0	1	1	UPI00020CE513	0		ENST00000550722		ENSG00000173064	26611		68			HGNC	p.H3002H	rs776051455	HECTD4		SNV							ENST00000430131	protein_coding			hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254		H		A		10230/15405	1.50E-05			F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,synonymous_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,synonymous_variant,p.=,ENST00000377560,;HECTD4,synonymous_variant,p.=,ENST00000430131,;							LOW	9834/12819			0.000151		Transcript			.	ENSP00000449784	1.65E-05				1	
BRINP1	0	LGGM	GRCh37	9	122011251	122011251	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	18	5	.	.	ENST00000265922.3:c.396A>T	p.Ser132=	p.S132=	ENST00000265922	NM_014618.2	132	tcA/tcT	0	1	1	UPI000013D6A7	0		ENST00000265922		ENSG00000078725	2687		23			HGNC	p.S132S		BRINP1		SNV							ENST00000265922	protein_coding			Pfam_domain:PF01823,hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7,SMART_domains:SM00457		S		A		858/3202				B4DE75_HUMAN			YES	BRINP1,synonymous_variant,p.=,ENST00000265922,NM_014618.2;BRINP1,synonymous_variant,p.=,ENST00000373964,;							LOW	396/2286		BRNP1_HUMAN			Transcript			.	ENSP00000265922		CCDS6822.1			1	
TGFBR2	0	LGGM	GRCh37	3	30713763	30713763	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	82	5	.	.	ENST00000359013.4:c.1163G>C	p.Ser388Thr	p.S388T	ENST00000359013	NM_001024847.2	388	aGt/aCt	0	1		UPI000011DD7E	0	getma.org/pdb.php?prot=TGFR2_HUMAN&from=244&to=538&var=S363T	ENST00000295754		ENSG00000163513	11773		87	1.72		HGNC	p.S363T		TGFBR2		SNV			1				ENST00000295754	protein_coding	getma.org/?cm=var&var=hg19,3,30713763,G,C&fts=all		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		S/T		C	low	1470/4621		getma.org/?cm=msa&ty=f&p=TGFR2_HUMAN&rb=244&re=538&var=S363T	deleterious(0)	A3QNQ0_HUMAN				TGFBR2,missense_variant,p.Ser363Thr,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Ser388Thr,ENST00000359013,NM_001024847.2;							MODERATE	1088/1704	S363T	TGFR2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000295754		CCDS2648.1			1	
CPXM1	0	LGGM	GRCh37	20	2776521	2776521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	20	5	.	.	ENST00000380605.2:c.1444G>T	p.Val482Leu	p.V482L	ENST00000380605	NM_001184699.1	482	Gta/Tta	0	1	1	UPI0000039DD0	0	getma.org/pdb.php?prot=CPXM1_HUMAN&from=305&to=613&var=V482L	ENST00000380605		ENSG00000088882	15771		25	1.29		HGNC	p.V482L		CPXM1		SNV							ENST00000380605	protein_coding	getma.org/?cm=var&var=hg19,20,2776521,C,A&fts=all		hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF43,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		V/L		A	low	1509/2391		getma.org/?cm=msa&ty=f&p=CPXM1_HUMAN&rb=305&re=613&var=V482L	tolerated(0.06)	Q8N2F1_HUMAN,B4DZY4_HUMAN			YES	CPXM1,missense_variant,p.Val482Leu,ENST00000380605,NM_001184699.1,NM_019609.4;							MODERATE	1444/2205	V482L	CPXM1_HUMAN			Transcript		benign(0.115)	.	ENSP00000369979		CCDS13033.1			1	
TACR3	0	LGGM	GRCh37	4	104511120	104511120	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	17	5	.	.	ENST00000304883.2:c.1117T>A	p.Trp373Arg	p.W373R	ENST00000304883	NM_001059.2	373	Tgg/Agg	0	1	1	UPI0000050413	0	getma.org/pdb.php?prot=NK3R_HUMAN&from=357&to=465&var=W373R	ENST00000304883		ENSG00000169836	11528		22	2.73		HGNC	p.W373R		TACR3		SNV			1				ENST00000304883	protein_coding	getma.org/?cm=var&var=hg19,4,104511120,A,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00244,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF46,Superfamily_domains:SSF81321		W/R		T	medium	1258/5190		getma.org/?cm=msa&ty=f&p=NK3R_HUMAN&rb=357&re=465&var=W373R	deleterious(0)				YES	TACR3,missense_variant,p.Trp373Arg,ENST00000304883,NM_001059.2;RP11-297P16.3,intron_variant,,ENST00000502936,;RP11-297P16.3,intron_variant,,ENST00000512401,;							MODERATE	1117/1398	W373R	NK3R_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000303325		CCDS3664.1			1	
PXDN	0	LGGM	GRCh37	2	1643110	1643110	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	44	5	.	.	ENST00000252804.4:c.4037A>T	p.Lys1346Met	p.K1346M	ENST00000252804	NM_012293.1	1346	aAg/aTg	0	1	1	UPI00001C1DC2	0	NA	ENST00000252804		ENSG00000130508	14966		49	1.15		HGNC	p.K1346M		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1643110,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475		K/M		A	low	4088/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=1290&re=1414&var=K1346M	tolerated(0.09)				YES	PXDN,missense_variant,p.Lys1346Met,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000477093,;PXDN,missense_variant,p.Lys64Met,ENST00000453308,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,upstream_gene_variant,,ENST00000493654,;							MODERATE	4037/4440	K1346M	PXDN_HUMAN			Transcript		benign(0.027)	.	ENSP00000252804		CCDS46221.1			1	
DHX9	0	LGGM	GRCh37	1	182821405	182821405	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	39	5	.	.	ENST00000367549.3:c.290C>G	p.Thr97Ser	p.T97S	ENST00000367549	NM_001357.4	97	aCt/aGt	0	1	1	UPI00001AEF15	0	NA	ENST00000367549		ENSG00000135829	2750		44	0.205		HGNC	p.T97S		DHX9		SNV							ENST00000367549	protein_coding	getma.org/?cm=var&var=hg19,1,182821405,C,G&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF84,Low_complexity_(Seg):seg		T/S		G	neutral	400/4240		getma.org/?cm=msa&ty=f&p=DHX9_HUMAN&rb=70&re=180&var=T97S	tolerated(0.92)				YES	DHX9,missense_variant,p.Thr97Ser,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000483416,;DHX9,upstream_gene_variant,,ENST00000479271,;							MODERATE	290/3813	T97S	DHX9_HUMAN			Transcript		benign(0)	.	ENSP00000356520		CCDS41444.1			1	
TP53	0	LGGM	GRCh37	17	7578190	7578190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	17	6	.	.	ENST00000269305.4:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000269305	NM_001126112.2	220	tAt/tGt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y220C	ENST00000269305	pathogenic	ENSG00000141510	11998		23	3.02		HGNC	p.Y220C	rs121912666,TP53_g.12728A>G,COSM10758,COSM99720,COSM99718,COSM3355993,COSM1644277,COSM99719	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578190,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/C		C	medium	849/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y220C	deleterious(0)	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			YES	TP53,missense_variant,p.Tyr220Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr220Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr220Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr220Cys,ENST00000445888,;TP53,missense_variant,p.Tyr220Cys,ENST00000359597,;TP53,missense_variant,p.Tyr220Cys,ENST00000413465,;TP53,missense_variant,p.Tyr88Cys,ENST00000509690,;TP53,missense_variant,p.Tyr127Cys,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,;					0,0,1,1,1,1,1,1		MODERATE	659/1182	Y220C	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	25404506
ITPR3	0	LGGM	GRCh37	6	33636929	33636929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	39	6	.	.	ENST00000374316.5:c.2185T>A	p.Tyr729Asn	p.Y729N	ENST00000374316		729	Tac/Aac	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		45	2.65		HGNC	p.Y729N		ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33636929,T,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		Y/N		A	medium	3245/9870		getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=678&re=877&var=Y729N	deleterious(0)	A6H8K3_HUMAN			YES	ITPR3,missense_variant,p.Tyr729Asn,ENST00000374316,;ITPR3,missense_variant,p.Tyr729Asn,ENST00000605930,NM_002224.3;							MODERATE	2185/8016	Y729N	ITPR3_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000363435		CCDS4783.1			1	
SMCHD1	0	LGGM	GRCh37	18	2705789	2705789	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	58	6	.	.	ENST00000320876.6:c.1940A>T	p.Glu647Val	p.E647V	ENST00000320876	NM_015295.2	647	gAg/gTg	0	1	1	UPI00001D7AAD	0	NA	ENST00000320876		ENSG00000101596	29090		64	1.67		HGNC	p.E118V		SMCHD1		SNV			1				ENST00000577880	protein_coding	getma.org/?cm=var&var=hg19,18,2705789,A,T&fts=all		hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640		E/V		T	low	2278/8821		getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=500&re=699&var=E647V	deleterious(0)				YES	SMCHD1,missense_variant,p.Glu647Val,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Glu647Val,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,missense_variant,p.Glu118Val,ENST00000577880,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000577300,;SMCHD1,upstream_gene_variant,,ENST00000584897,;SMCHD1,downstream_gene_variant,,ENST00000585229,;SMCHD1,upstream_gene_variant,,ENST00000581711,;							MODERATE	1940/6018	E647V	SMHD1_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000326603		CCDS45822.1			1	
NARS2	0	LGGM	GRCh37	11	78189703	78189703	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	37	6	.	.	ENST00000281038.5:c.849A>T	p.Thr283=	p.T283=	ENST00000281038	NM_001243251.1	283	acA/acT	0	1	1	UPI000036680B	0		ENST00000281038		ENSG00000137513	26274		43			HGNC	p.T56T		NARS2		SNV							ENST00000528850	protein_coding			HAMAP:MF_00534,PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF6,Gene3D:3.30.930.10,Pfam_domain:PF00152,TIGRFAM_domain:TIGR00457,Superfamily_domains:SSF55681		T		A		1225/2519				G3V178_HUMAN			YES	NARS2,synonymous_variant,p.=,ENST00000281038,NM_001243251.1,NM_024678.5;NARS2,synonymous_variant,p.=,ENST00000528850,;NARS2,intron_variant,,ENST00000529880,;NARS2,3_prime_UTR_variant,,ENST00000525345,;							LOW	849/1434		SYNM_HUMAN			Transcript			.	ENSP00000281038		CCDS8261.1			1	
IMPG2	0	LGGM	GRCh37	3	100963214	100963214	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	55	6	.	.	ENST00000193391.7:c.1961A>T	p.Lys654Ile	p.K654I	ENST00000193391	NM_016247.3	654	aAa/aTa	0	1	1	UPI000013C605	0	NA	ENST00000193391		ENSG00000081148	18362		61	0.695		HGNC	p.K654I		IMPG2		SNV			1				ENST00000193391	protein_coding	getma.org/?cm=var&var=hg19,3,100963214,T,A&fts=all		hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199		K/I		A	neutral	2149/8337		getma.org/?cm=msa&ty=f&p=IMPG2_HUMAN&rb=366&re=893&var=K654I	tolerated(0.34)	F1T0J3_HUMAN			YES	IMPG2,missense_variant,p.Lys654Ile,ENST00000193391,NM_016247.3;							MODERATE	1961/3726	K654I	IMPG2_HUMAN			Transcript		benign(0.157)	.	ENSP00000193391		CCDS2940.1			1	
DCN	0	LGGM	GRCh37	12	91558428	91558428	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	40	6	.	.	ENST00000052754.5:c.278T>C	p.Ile93Thr	p.I93T	ENST00000052754	NM_001920.3	93	aTa/aCa	0	1	1	UPI000013187E	0	getma.org/pdb.php?prot=PGS2_HUMAN&from=81&to=141&var=I93T	ENST00000052754		ENSG00000011465	2705		46	3.655		HGNC	p.I93T		DCN		SNV			1				ENST00000552962	protein_coding	getma.org/?cm=var&var=hg19,12,91558428,A,G&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,PIRSF_domain:PIRSF002490,Superfamily_domains:SSF52058		I/T		G	high	780/2392		getma.org/?cm=msa&ty=f&p=PGS2_HUMAN&rb=81&re=141&var=I93T	deleterious(0)	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN			YES	DCN,missense_variant,p.Ile93Thr,ENST00000052754,NM_001920.3;DCN,missense_variant,p.Ile93Thr,ENST00000393155,NM_133503.2;DCN,missense_variant,p.Ile93Thr,ENST00000552962,;DCN,missense_variant,p.Ile93Thr,ENST00000303320,NM_133506.2;DCN,missense_variant,p.Ile93Thr,ENST00000549513,;DCN,missense_variant,p.Ile93Thr,ENST00000547937,;DCN,missense_variant,p.Ile93Thr,ENST00000552145,;DCN,missense_variant,p.Ile93Thr,ENST00000550563,;DCN,missense_variant,p.Ile93Thr,ENST00000441303,;DCN,intron_variant,,ENST00000228329,;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,,ENST00000456569,NM_133507.2;DCN,downstream_gene_variant,,ENST00000546370,;							MODERATE	278/1080	I93T	PGS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000052754		CCDS9039.1			1	
HECTD4	0	LGGM	GRCh37	12	112605234	112605234	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	28	7	.	.	ENST00000550722.1:c.11983C>G	p.Leu3995Val	p.L3995V	ENST00000550722	NM_001109662.3	3995	Ctg/Gtg	0	1	1	UPI00020CE513	0	getma.org/pdb.php?prot=K0614_HUMAN&from=3656&to=3993&var=L3719V	ENST00000550722		ENSG00000173064	26611		35	1.265		HGNC	p.L3719V		HECTD4		SNV							ENST00000430131	protein_coding	getma.org/?cm=var&var=hg19,12,112605234,G,C&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204		L/V		C	low	12379/15405		getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=3656&re=3993&var=L3719V		F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,missense_variant,p.Leu3995Val,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Leu3719Val,ENST00000430131,;HECTD4,missense_variant,p.Leu3969Val,ENST00000377560,;HECTD4,downstream_gene_variant,,ENST00000548588,;HECTD4,non_coding_transcript_exon_variant,,ENST00000547085,;HECTD4,non_coding_transcript_exon_variant,,ENST00000548140,;							MODERATE	11983/12819	L3719V				Transcript		possibly_damaging(0.826)	.	ENSP00000449784					1	
DOK1	0	LGGM	GRCh37	2	74783878	74783878	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	62	7	.	.	ENST00000233668.5:c.1083C>G	p.Ile361Met	p.I361M	ENST00000233668	NM_001381.3	361	atC/atG	0	1	1	UPI00001296A9	0	NA	ENST00000233668		ENSG00000115325	2990		69	2.325		HGNC	p.I361M		DOK1		SNV							ENST00000233668	protein_coding	getma.org/?cm=var&var=hg19,2,74783878,C,G&fts=all		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF46		I/M		G	medium	1752/2555		getma.org/?cm=msa&ty=f&p=DOK1_HUMAN&rb=255&re=454&var=I361M	deleterious(0)	Q2TA81_HUMAN			YES	DOK1,missense_variant,p.Ile361Met,ENST00000233668,NM_001381.3;DOK1,missense_variant,p.Ile222Met,ENST00000409429,NM_001197260.1;DOK1,3_prime_UTR_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000264094,NM_032603.2;LOXL3,upstream_gene_variant,,ENST00000409549,;M1AP,downstream_gene_variant,,ENST00000290536,NM_138804.4;M1AP,downstream_gene_variant,,ENST00000409585,;LOXL3,upstream_gene_variant,,ENST00000409249,;LOXL3,upstream_gene_variant,,ENST00000393937,;M1AP,downstream_gene_variant,,ENST00000536235,NM_001281296.1;LOXL3,upstream_gene_variant,,ENST00000409986,;M1AP,downstream_gene_variant,,ENST00000358434,;LOXL3,upstream_gene_variant,,ENST00000413469,;DOK1,non_coding_transcript_exon_variant,,ENST00000480318,;DOK1,non_coding_transcript_exon_variant,,ENST00000489958,;DOK1,non_coding_transcript_exon_variant,,ENST00000496966,;M1AP,downstream_gene_variant,,ENST00000464686,;LOXL3,upstream_gene_variant,,ENST00000484369,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,downstream_gene_variant,,ENST00000488613,;M1AP,downstream_gene_variant,,ENST00000485997,;DOK1,non_coding_transcript_exon_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000429631,;DOK1,downstream_gene_variant,,ENST00000482206,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000475191,;							MODERATE	1083/1446	I361M	DOK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000233668		CCDS1954.1			1	
GUCA2A	0	LGGM	GRCh37	1	42628622	42628622	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	24	7	.	.	ENST00000357001.2:c.303G>A	p.Pro101=	p.P101=	ENST00000357001	NM_033553.2	101	ccG/ccA	0	1	1	UPI000013CC23	0		ENST00000357001		ENSG00000197273	4682		31			HGNC	p.P101P	rs775181929	GUCA2A		SNV							ENST00000357001	protein_coding			hmmpanther:PTHR11318,hmmpanther:PTHR11318:SF3,Pfam_domain:PF02058,Gene3D:1o8rA00,PIRSF_domain:PIRSF001849,Superfamily_domains:0041741		P		T		309/569	1.51E-05						YES	GUCA2A,synonymous_variant,p.=,ENST00000357001,NM_033553.2;	0.000116						LOW	303/348		GUC2A_HUMAN			Transcript			.	ENSP00000349493	1.65E-05	CCDS465.1			1	
ARHGAP31	0	LGGM	GRCh37	3	119134331	119134331	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	43	7	.	.	ENST00000264245.4:c.3555T>A	p.Ala1185=	p.A1185=	ENST00000264245	NM_020754.2	1185	gcT/gcA	0	1	1	UPI00001C1DFD	0		ENST00000264245		ENSG00000031081	29216		50			HGNC	p.A1185A		ARHGAP31		SNV			1				ENST00000264245	protein_coding			hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729		A		A		4087/9317							YES	ARHGAP31,synonymous_variant,p.=,ENST00000264245,NM_020754.2;							LOW	3555/4335		RHG31_HUMAN			Transcript			.	ENSP00000264245		CCDS43135.1			1	
NWD1	0	LGGM	GRCh37	19	16860000	16860000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	28	7	.	.	ENST00000524140.2:c.547C>A	p.Gln183Lys	p.Q183K	ENST00000524140	NM_001007525.3	183	Cag/Aag	0	1		UPI0001AE63B7	0	NA	ENST00000552788		ENSG00000188039	27619		35	1.355		HGNC	p.Q183K		NWD1		SNV							ENST00000549814	protein_coding	getma.org/?cm=var&var=hg19,19,16860000,C,A&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273		Q/K		A	low	547/6964		getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=1&re=200&var=Q183K	tolerated(0.87)	E9PBV1_HUMAN				NWD1,missense_variant,p.Gln183Lys,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Gln183Lys,ENST00000552788,;NWD1,missense_variant,p.Gln183Lys,ENST00000549814,;NWD1,missense_variant,p.Gln183Lys,ENST00000379808,;NWD1,missense_variant,p.Gln48Lys,ENST00000339803,;NWD1,5_prime_UTR_variant,,ENST00000523826,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							MODERATE	547/4695	Q183K	NWD1_HUMAN			Transcript		benign(0.021)	.	ENSP00000447224					1	
GIMAP2	0	LGGM	GRCh37	7	150389600	150389600	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	49	7	.	.	ENST00000223293.5:c.226A>G	p.Ile76Val	p.I76V	ENST00000223293	NM_015660.2	76	Att/Gtt	0	1	1	UPI000006D114	0	getma.org/pdb.php?prot=GIMA2_HUMAN&from=23&to=234&var=I76V	ENST00000223293		ENSG00000106560	21789		56	0.665		HGNC	p.I76V		GIMAP2		SNV							ENST00000223293	protein_coding	getma.org/?cm=var&var=hg19,7,150389600,A,G&fts=all		PROSITE_profiles:PS51720,hmmpanther:PTHR10903:SF28,hmmpanther:PTHR10903,Gene3D:3.40.50.300,Pfam_domain:PF04548,Superfamily_domains:SSF52540		I/V		G	neutral	320/1449		getma.org/?cm=msa&ty=f&p=GIMA2_HUMAN&rb=23&re=234&var=I76V	tolerated(1)				YES	GIMAP2,missense_variant,p.Ile76Val,ENST00000223293,NM_015660.2;GIMAP2,downstream_gene_variant,,ENST00000474605,;GIMAP2,downstream_gene_variant,,ENST00000487388,;							MODERATE	226/1014	I76V	GIMA2_HUMAN			Transcript		benign(0.123)	.	ENSP00000223293		CCDS5905.1			1	
DCAF8L1	0	LGGM	GRCh37	X	27998511	27998511	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	19	8	.	.	ENST00000441525.1:c.941T>A	p.Ile314Asn	p.I314N	ENST00000441525	NM_001017930.1	314	aTt/aAt	0	1	1	UPI000022DD1B	0	getma.org/pdb.php?prot=DC8L1_HUMAN&from=225&to=424&var=I314N	ENST00000441525		ENSG00000226372	31810		27	2.695		HGNC	p.I314N		DCAF8L1		SNV							ENST00000441525	protein_coding	getma.org/?cm=var&var=hg19,X,27998511,A,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		I/N		T	medium	1056/3457		getma.org/?cm=msa&ty=f&p=DC8L1_HUMAN&rb=225&re=424&var=I314N	deleterious(0)				YES	DCAF8L1,missense_variant,p.Ile314Asn,ENST00000441525,NM_001017930.1;							MODERATE	941/1803	I314N	DC8L1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000405222		CCDS35222.1			1	
RYR3	0	LGGM	GRCh37	15	33939638	33939638	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	47	8	.	.	ENST00000389232.4:c.3955G>A	p.Glu1319Lys	p.E1319K	ENST00000389232	NM_001036.3	1319	Gaa/Aaa	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		55	1.545		HGNC	p.E1319K		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33939638,G,A&fts=all		hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188		E/K		A	low	4025/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=1254&re=1466&var=E1319K					YES	RYR3,missense_variant,p.Glu1319Lys,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Glu1319Lys,ENST00000415757,NM_001243996.1;							MODERATE	3955/14613	E1319K	RYR3_HUMAN			Transcript		benign(0.015)	.	ENSP00000373884		CCDS45210.1			1	
ARID4B	0	LGGM	GRCh37	1	235331958	235331958	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	27	8	.	.	ENST00000264183.3:c.3821C>T	p.Thr1274Ile	p.T1274I	ENST00000264183	NM_016374.5	1274	aCa/aTa	0	1	1	UPI00000437FE	0	NA	ENST00000264183		ENSG00000054267	15550		35	0		HGNC	p.T1274I		ARID4B		SNV							ENST00000264183	protein_coding	getma.org/?cm=var&var=hg19,1,235331958,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13964:SF21,hmmpanther:PTHR13964		T/I		A	neutral	4319/6067		getma.org/?cm=msa&ty=f&p=ARI4B_HUMAN&rb=1227&re=1312&var=T1274I	deleterious(0)				YES	ARID4B,missense_variant,p.Thr1274Ile,ENST00000264183,NM_016374.5;ARID4B,missense_variant,p.Thr1274Ile,ENST00000366603,NM_001206794.1;ARID4B,missense_variant,p.Thr1188Ile,ENST00000349213,NM_031371.3;ARID4B-IT1,downstream_gene_variant,,ENST00000357671,;ARID4B,missense_variant,p.Thr588Ile,ENST00000474953,;ARID4B,3_prime_UTR_variant,,ENST00000421364,;ARID4B,downstream_gene_variant,,ENST00000474401,;							MODERATE	3821/3939	T1274I	ARI4B_HUMAN			Transcript		benign(0.025)	.	ENSP00000264183		CCDS31061.1			1	
AGPAT6	0	LGGM	GRCh37	8	41469759	41469759	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	61	8	.	.	ENST00000396987.3:c.762G>T	p.Val254=	p.V254=	ENST00000396987	NM_178819.3	254	gtG/gtT	0	1	1	UPI0000047FDD	0		ENST00000396987		ENSG00000158669	20880		69			HGNC	p.V254V		AGPAT6		SNV							ENST00000396987	protein_coding			Superfamily_domains:0039877,Pfam_domain:PF01553,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF5,SMART_domains:SM00563		V		T		1689/6298				Q8NDD3_HUMAN,Q2TU73_HUMAN,E5RIA1_HUMAN,E5RHA6_HUMAN,E5RGW3_HUMAN			YES	AGPAT6,synonymous_variant,p.=,ENST00000396987,NM_178819.3;AGPAT6,downstream_gene_variant,,ENST00000519853,;RP11-360L9.8,intron_variant,,ENST00000581909,;AGPAT6,non_coding_transcript_exon_variant,,ENST00000519921,;AGPAT6,non_coding_transcript_exon_variant,,ENST00000523906,;AGPAT6,downstream_gene_variant,,ENST00000521806,;							LOW	762/1371		GPAT4_HUMAN			Transcript			.	ENSP00000380184		CCDS6117.1			1	
RHOT1	0	LGGM	GRCh37	17	30503214	30503214	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	43	8	.	.	ENST00000358365.3:c.311G>A	p.Arg104Lys	p.R104K	ENST00000358365	NM_001033568.1	104	aGa/aAa	0	1		UPI000020164E	0	getma.org/pdb.php?prot=MIRO1_HUMAN&from=6&to=168&var=R104K	ENST00000333942		ENSG00000126858	21168		51	0.47		HGNC	p.R83K	rs534936297,COSM3795440	RHOT1	0.000667	SNV						0,1	ENST00000354266	protein_coding	getma.org/?cm=var&var=hg19,17,30503214,G,A&fts=all	A:0	Gene3D:3.40.50.300,Pfam_domain:PF00071,PIRSF_domain:PIRSF037488,PROSITE_profiles:PS51423,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF124,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/K		A	neutral	550/3133		getma.org/?cm=msa&ty=f&p=MIRO1_HUMAN&rb=6&re=168&var=R104K	tolerated(0.92)	H7BXZ6_HUMAN	A:0	A:0		RHOT1,missense_variant,p.Arg104Lys,ENST00000358365,NM_001033568.1;RHOT1,missense_variant,p.Arg104Lys,ENST00000581094,;RHOT1,missense_variant,p.Arg104Lys,ENST00000333942,NM_018307.3,NM_001288755.1;RHOT1,missense_variant,p.Arg104Lys,ENST00000394692,NM_001288754.1;RHOT1,missense_variant,p.Arg83Lys,ENST00000354266,;RHOT1,missense_variant,p.Arg104Lys,ENST00000545287,NM_001033566.1;RHOT1,5_prime_UTR_variant,,ENST00000583994,NM_001288758.1;AC116407.2,downstream_gene_variant,,ENST00000600034,;RHOT1,intron_variant,,ENST00000580976,;RHOT1,missense_variant,p.Arg104Lys,ENST00000581031,;RHOT1,3_prime_UTR_variant,,ENST00000578205,;		A:0.0002			0,1		MODERATE	311/1857	R104K	MIRO1_HUMAN		A:0	Transcript		benign(0.186)	common_variant	ENSP00000334724	9.06E-05	CCDS32612.1		A:0.001	1	
CROCC	0	LGGM	GRCh37	1	17256974	17256974	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	28	8	.	.	ENST00000375541.5:c.734A>T	p.Gln245Leu	p.Q245L	ENST00000375541	NM_014675.3	245	cAg/cTg	0	1	1	UPI00001AE5A0	0	NA	ENST00000375541		ENSG00000058453	21299		36	2.045		HGNC	p.Q245L		CROCC		SNV							ENST00000375541	protein_coding	getma.org/?cm=var&var=hg19,1,17256974,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15035,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11		Q/L		T	medium	803/6656		getma.org/?cm=msa&ty=f&p=CROCC_HUMAN&rb=1&re=259&var=Q245L					YES	CROCC,missense_variant,p.Gln245Leu,ENST00000375541,NM_014675.3;CROCC,missense_variant,p.Gln105Leu,ENST00000445545,;CROCC,non_coding_transcript_exon_variant,,ENST00000467938,;CROCC,non_coding_transcript_exon_variant,,ENST00000466256,;CROCC,non_coding_transcript_exon_variant,,ENST00000492631,;							MODERATE	734/6054	Q245L	CROCC_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000364691		CCDS30616.1			1	
TIMELESS	0	LGGM	GRCh37	12	56815802	56815802	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	32	9	.	.	ENST00000553532.1:c.2525-2A>G		p.X842_splice	ENST00000553532				0	1	1	UPI000013C8EA	0		ENST00000553532		ENSG00000111602	11813		41			HGNC	-		TIMELESS		SNV							ENST00000229201	protein_coding							C		-/4371							YES	TIMELESS,splice_acceptor_variant,,ENST00000229201,NM_003920.3;TIMELESS,splice_acceptor_variant,,ENST00000553532,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,splice_acceptor_variant,,ENST00000557589,;TIMELESS,splice_acceptor_variant,,ENST00000555808,;TIMELESS,upstream_gene_variant,,ENST00000553314,;							HIGH	2525/3627		TIM_HUMAN			Transcript			.	ENSP00000450607		CCDS8918.1			1	
DDIT3	0	LGGM	GRCh37	12	57910615	57910615	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	59	9	.	.	ENST00000551116.1:c.556A>G	p.Met186Val	p.M186V	ENST00000551116	NM_001195054.1	186	Atg/Gtg	0	1		UPI0000000C56	0	NA	ENST00000346473		ENSG00000175197	2726		68	0.55		HGNC	p.M163V		DDIT3		SNV			1				ENST00000346473	protein_coding	getma.org/?cm=var&var=hg19,12,57910615,T,C&fts=all		PIRSF_domain:PIRSF016571,hmmpanther:PTHR16833:SF0,hmmpanther:PTHR16833		M/V		C	neutral	667/906		getma.org/?cm=msa&ty=f&p=DDIT3_HUMAN&rb=122&re=169&var=M163V	deleterious(0.02)	Q53YD1_HUMAN				DDIT3,missense_variant,p.Met186Val,ENST00000551116,NM_001195054.1,NM_001195056.1,NM_001195055.1,NM_001195053.1;DDIT3,missense_variant,p.Met186Val,ENST00000552740,;DDIT3,missense_variant,p.Met163Val,ENST00000346473,NM_004083.5,NM_001195057.1;DDIT3,missense_variant,p.Met163Val,ENST00000547303,;MARS,downstream_gene_variant,,ENST00000262027,NM_004990.3;MARS,downstream_gene_variant,,ENST00000315473,;MARS,downstream_gene_variant,,ENST00000552914,;MARS,downstream_gene_variant,,ENST00000547665,;DDIT3,downstream_gene_variant,,ENST00000547526,;MBD6,upstream_gene_variant,,ENST00000546805,;MBD6,upstream_gene_variant,,ENST00000548887,;MBD6,upstream_gene_variant,,ENST00000551351,;MARS,downstream_gene_variant,,ENST00000548944,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MARS,downstream_gene_variant,,ENST00000447721,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,intron_variant,,ENST00000537638,;MARS,downstream_gene_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000551172,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000552499,;MARS,downstream_gene_variant,,ENST00000551805,;							MODERATE	487/510	M163V	DDIT3_HUMAN			Transcript		benign(0.142)	.	ENSP00000340671		CCDS8943.1			1	
PNPLA8	0	LGGM	GRCh37	7	108143011	108143011	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	86	9	.	.	ENST00000422087.1:c.1282T>G	p.Leu428Val	p.L428V	ENST00000422087	NM_015723.3	428	Ttg/Gtg	0	1		UPI0000073D34	0	NA	ENST00000257694		ENSG00000135241	28900		95	2.71		HGNC	p.L428V		PNPLA8		SNV							ENST00000426128	protein_coding	getma.org/?cm=var&var=hg19,7,108143011,A,C&fts=all		hmmpanther:PTHR24185		L/V		C	medium	1577/3490		getma.org/?cm=msa&ty=f&p=PLPL8_HUMAN&rb=401&re=444&var=L428V	deleterious(0)	C9JAX4_HUMAN,C9J9W9_HUMAN				PNPLA8,missense_variant,p.Leu428Val,ENST00000426128,NM_001256009.1;PNPLA8,missense_variant,p.Leu428Val,ENST00000422087,NM_015723.3;PNPLA8,missense_variant,p.Leu428Val,ENST00000257694,NM_001256007.1;PNPLA8,missense_variant,p.Leu428Val,ENST00000436062,NM_001256008.1;PNPLA8,missense_variant,p.Leu328Val,ENST00000453144,NM_001256010.1;PNPLA8,missense_variant,p.Leu428Val,ENST00000388728,;PNPLA8,missense_variant,p.Leu328Val,ENST00000453085,NM_001256011.1;PNPLA8,non_coding_transcript_exon_variant,,ENST00000483879,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000476592,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000489738,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000462466,;							MODERATE	1282/2349	L428V	PLPL8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000257694		CCDS34733.1			1	
MOCOS	0	LGGM	GRCh37	18	33779799	33779799	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	37	9	.	.	ENST00000261326.5:c.453C>T	p.Ser151=	p.S151=	ENST00000261326	NM_017947.2	151	agC/agT	0	1	1	UPI000013D165	0		ENST00000261326		ENSG00000075643	18234		46			HGNC	p.S151S		MOCOS		SNV			1				ENST00000261326	protein_coding			Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050		S		T		474/6160							YES	MOCOS,synonymous_variant,p.=,ENST00000261326,NM_017947.2;							LOW	453/2667		MOCOS_HUMAN			Transcript			.	ENSP00000261326		CCDS11919.1			1	
CCDC13	0	LGGM	GRCh37	3	42775039	42775039	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	146	9	.	.	ENST00000310232.6:c.1434C>G	p.Thr478=	p.T478=	ENST00000310232	NM_144719.3	478	acC/acG	0	1	1	UPI00001AEF4E	0		ENST00000310232		ENSG00000244607	26358		155			HGNC	p.T478T		CCDC13		SNV							ENST00000310232	protein_coding			hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1		T		C		1518/2943							YES	CCDC13,synonymous_variant,p.=,ENST00000310232,NM_144719.3;CCDC13-AS1,intron_variant,,ENST00000418161,;CCDC13-AS1,intron_variant,,ENST00000446950,;CCDC13,upstream_gene_variant,,ENST00000496027,;CCDC13,upstream_gene_variant,,ENST00000472921,;							LOW	1434/2148		CCD13_HUMAN			Transcript			.	ENSP00000309836		CCDS2705.1			1	
IL2RB	0	LGGM	GRCh37	22	37533670	37533670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	22	9	.	.	ENST00000216223.5:c.494T>C	p.Leu165Pro	p.L165P	ENST00000216223	NM_000878.3	165	cTg/cCg	0	1	1	UPI000000128F	0	getma.org/pdb.php?prot=IL2RB_HUMAN&from=1&to=549&var=L165P	ENST00000216223		ENSG00000100385	6009		31	2.005		HGNC	p.L165P		IL2RB		SNV			1				ENST00000453962	protein_coding	getma.org/?cm=var&var=hg19,22,37533670,A,G&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF23,SMART_domains:SM00060,Superfamily_domains:SSF49265		L/P		G	medium	693/4113		getma.org/?cm=msa&ty=f&p=IL2RB_HUMAN&rb=1&re=549&var=L165P	deleterious(0)	B0QYC2_HUMAN,B0QYC1_HUMAN,B0QYC0_HUMAN			YES	IL2RB,missense_variant,p.Leu165Pro,ENST00000216223,NM_000878.3;IL2RB,missense_variant,p.Leu165Pro,ENST00000453962,;IL2RB,downstream_gene_variant,,ENST00000445595,;IL2RB,downstream_gene_variant,,ENST00000429622,;AL022314.1,upstream_gene_variant,,ENST00000516333,;IL2RB,upstream_gene_variant,,ENST00000483573,;IL2RB,downstream_gene_variant,,ENST00000461607,;IL2RB,downstream_gene_variant,,ENST00000440958,;							MODERATE	494/1656	L165P	IL2RB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000216223		CCDS13942.1			1	
PNPLA8	0	LGGM	GRCh37	7	108143018	108143018	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	82	9	.	.	ENST00000422087.1:c.1275A>G	p.Arg425=	p.R425=	ENST00000422087	NM_015723.3	425	agA/agG	0	1		UPI0000073D34	0		ENST00000257694		ENSG00000135241	28900		91			HGNC	p.R425R		PNPLA8		SNV							ENST00000426128	protein_coding			hmmpanther:PTHR24185		R		C		1570/3490				C9JAX4_HUMAN,C9J9W9_HUMAN				PNPLA8,synonymous_variant,p.=,ENST00000426128,NM_001256009.1;PNPLA8,synonymous_variant,p.=,ENST00000422087,NM_015723.3;PNPLA8,synonymous_variant,p.=,ENST00000257694,NM_001256007.1;PNPLA8,synonymous_variant,p.=,ENST00000436062,NM_001256008.1;PNPLA8,synonymous_variant,p.=,ENST00000453144,NM_001256010.1;PNPLA8,synonymous_variant,p.=,ENST00000388728,;PNPLA8,synonymous_variant,p.=,ENST00000453085,NM_001256011.1;PNPLA8,non_coding_transcript_exon_variant,,ENST00000483879,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000476592,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000489738,;PNPLA8,non_coding_transcript_exon_variant,,ENST00000462466,;							LOW	1275/2349		PLPL8_HUMAN			Transcript			.	ENSP00000257694		CCDS34733.1			1	
PLXNB1	0	LGGM	GRCh37	3	48454501	48454501	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	46	10	.	.	ENST00000358536.4:c.4613A>T	p.Asp1538Val	p.D1538V	ENST00000358536	NM_002673.4	1538	gAc/gTc	0	1		UPI0000038131	0	getma.org/pdb.php?prot=PLXB1_HUMAN&from=1375&to=1560&var=D1538V	ENST00000296440		ENSG00000164050	9103		56	2.725		HGNC	p.D1355V		PLXNB1		SNV							ENST00000358459	protein_coding	getma.org/?cm=var&var=hg19,3,48454501,T,A&fts=all		hmmpanther:PTHR22625:SF36,hmmpanther:PTHR22625		D/V		A	medium	4716/7143		getma.org/?cm=msa&ty=f&p=PLXB1_HUMAN&rb=1375&re=1560&var=D1538V	deleterious(0)	G8JLJ7_HUMAN,B3KRL1_HUMAN				PLXNB1,missense_variant,p.Asp1538Val,ENST00000358536,NM_002673.4;PLXNB1,missense_variant,p.Asp1538Val,ENST00000296440,NM_001130082.1;PLXNB1,missense_variant,p.Asp1355Val,ENST00000358459,;PLXNB1,missense_variant,p.Asp1355Val,ENST00000456774,;PLXNB1,missense_variant,p.Asp149Val,ENST00000448774,;PLXNB1,downstream_gene_variant,,ENST00000465117,;PLXNB1,non_coding_transcript_exon_variant,,ENST00000485535,;PLXNB1,downstream_gene_variant,,ENST00000449094,;PLXNB1,downstream_gene_variant,,ENST00000473996,;PLXNB1,downstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000461261,;PLXNB1,upstream_gene_variant,,ENST00000470525,;PLXNB1,downstream_gene_variant,,ENST00000467913,;PLXNB1,upstream_gene_variant,,ENST00000478171,;PLXNB1,upstream_gene_variant,,ENST00000483676,;PLXNB1,upstream_gene_variant,,ENST00000497627,;							MODERATE	4613/6408	D1538V	PLXB1_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000296440		CCDS2765.1			1	
CALCRL	0	LGGM	GRCh37	2	188216960	188216960	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	42	10	.	.	ENST00000409998.1:c.1009G>C	p.Ala337Pro	p.A337P	ENST00000409998		337	Gct/Cct	0	1		UPI000013D4CD	0	NA	ENST00000392370		ENSG00000064989	16709		52	2.87		HGNC	p.A337P		CALCRL		SNV							ENST00000392370	protein_coding	getma.org/?cm=var&var=hg19,2,188216960,C,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249		A/P		G	medium	1723/5155		getma.org/?cm=msa&ty=f&p=CALRL_HUMAN&rb=138&re=380&var=A337P	deleterious(0)	E7EN01_HUMAN,B8ZZJ4_HUMAN				CALCRL,missense_variant,p.Ala337Pro,ENST00000409998,;CALCRL,missense_variant,p.Ala337Pro,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Ala337Pro,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;							MODERATE	1009/1386	A337P	CALRL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376177		CCDS2293.1			1	
ANK2	0	LGGM	GRCh37	4	114278924	114278924	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	72	11	.	.	ENST00000357077.4:c.9150A>T	p.Glu3050Asp	p.E3050D	ENST00000357077	NM_001148.4	3050	gaA/gaT	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		83	2.175		HGNC	p.E60D		ANK2		SNV			1				ENST00000505342	protein_coding	getma.org/?cm=var&var=hg19,4,114278924,A,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		E/D		T	medium	9203/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1998&re=3536&var=E3050D		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Glu3050Asp,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Glu3017Asp,ENST00000264366,;ANK2,missense_variant,p.Glu60Asp,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,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;							MODERATE	9150/11874	E3050D	ANK2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349588		CCDS3702.1			1	
ATP1A1	0	LGGM	GRCh37	1	116946519	116946519	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	73	11	.	.	ENST00000537345.1:c.2965T>C	p.Phe989Leu	p.F989L	ENST00000537345	NM_001160233.1	989	Ttc/Ctc	0	1		UPI0000124FBB	0	getma.org/pdb.php?prot=AT1A1_HUMAN&from=799&to=1008&var=F989L	ENST00000295598		ENSG00000163399	799		84	0.075		HGNC	p.F989L		ATP1A1		SNV							ENST00000537345	protein_coding	getma.org/?cm=var&var=hg19,1,116946519,T,C&fts=all		Superfamily_domains:0049473,Gene3D:1.20.1110.10,Pfam_domain:PF00689,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF222,TIGRFAM_domain:TIGR01106,Transmembrane_helices:TMhelix		F/L		C	neutral	3217/3654		getma.org/?cm=msa&ty=f&p=AT1A1_HUMAN&rb=799&re=1008&var=F989L	tolerated(0.56)	Q5TC02_HUMAN,Q5TC01_HUMAN				ATP1A1,missense_variant,p.Phe989Leu,ENST00000537345,NM_001160233.1;ATP1A1,missense_variant,p.Phe989Leu,ENST00000295598,NM_000701.7;ATP1A1,missense_variant,p.Phe958Leu,ENST00000369496,NM_001160234.1;ATP1A1,intron_variant,,ENST00000440951,;ATP1A1OS,downstream_gene_variant,,ENST00000369492,;ATP1A1OS,downstream_gene_variant,,ENST00000369491,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1,downstream_gene_variant,,ENST00000479960,;ATP1A1,upstream_gene_variant,,ENST00000495965,;							MODERATE	2965/3072	F989L	AT1A1_HUMAN			Transcript		benign(0.008)	.	ENSP00000295598		CCDS887.1			1	
ACKR3	0	LGGM	GRCh37	2	237489423	237489423	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	45	12	.	.	ENST00000272928.3:c.315G>T	p.Val105=	p.V105=	ENST00000272928	NM_020311.2	105	gtG/gtT	0	1	1	UPI000013D989	0		ENST00000272928		ENSG00000144476	23692		57			HGNC	p.V105V		ACKR3		SNV							ENST00000272928	protein_coding			Prints_domain:PR00646,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF34,PROSITE_profiles:PS50262		V		T		625/2203							YES	ACKR3,synonymous_variant,p.=,ENST00000272928,NM_020311.2;ACKR3,synonymous_variant,p.=,ENST00000447924,;							LOW	315/1089		ACKR3_HUMAN			Transcript			.	ENSP00000272928		CCDS2516.1			1	
CAND1	0	LGGM	GRCh37	12	67699515	67699515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	72	13	.	.	ENST00000545606.1:c.2067G>A	p.Met689Ile	p.M689I	ENST00000545606	NM_018448.3	689	atG/atA	0	1	1	UPI0000037CC5	0	getma.org/pdb.php?prot=CAND1_HUMAN&from=601&to=800&var=M689I	ENST00000545606		ENSG00000111530	30688		85	1.5		HGNC	p.M229I		CAND1		SNV							ENST00000544619	protein_coding	getma.org/?cm=var&var=hg19,12,67699515,G,A&fts=all		hmmpanther:PTHR12696:SF1,hmmpanther:PTHR12696,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		M/I		A	low	2504/11251		getma.org/?cm=msa&ty=f&p=CAND1_HUMAN&rb=601&re=800&var=M689I	tolerated(0.48)	F5H6I6_HUMAN,B3KMG3_HUMAN			YES	CAND1,missense_variant,p.Met689Ile,ENST00000545606,NM_018448.3;CAND1,missense_variant,p.Met229Ile,ENST00000544619,;CAND1,intron_variant,,ENST00000540319,;							MODERATE	2067/3693	M689I	CAND1_HUMAN			Transcript		benign(0.05)	.	ENSP00000442318		CCDS8977.1			1	
H6PD	0	LGGM	GRCh37	1	9305306	9305306	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	31	13	.	.	ENST00000377403.2:c.313C>T	p.Leu105=	p.L105=	ENST00000377403	NM_004285.3	105	Ctg/Ttg	0	1	1	UPI000013C9AD	0		ENST00000377403		ENSG00000049239	4795		44			HGNC	p.L105L		H6PD		SNV			1				ENST00000377403	protein_coding			Gene3D:3.40.50.720,Pfam_domain:PF00479,hmmpanther:PTHR23429,hmmpanther:PTHR23429:SF2,Superfamily_domains:SSF51735		L		T		615/9146							YES	H6PD,synonymous_variant,p.=,ENST00000377403,NM_004285.3,NM_001282587.1;H6PD,synonymous_variant,p.=,ENST00000602477,;							LOW	313/2376		G6PE_HUMAN			Transcript			.	ENSP00000366620		CCDS101.1			1	
UBR2	0	LGGM	GRCh37	6	42643853	42643853	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	118	13	.	.	ENST00000372899.1:c.4311T>G	p.Leu1437=	p.L1437=	ENST00000372899	NM_015255.2	1437	ctT/ctG	0	1	1	UPI0000074466	0		ENST00000372899		ENSG00000024048	21289		131			HGNC	p.L1437L		UBR2		SNV							ENST00000372901	protein_coding			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28		L		G		4569/7857				B3KXG6_HUMAN			YES	UBR2,synonymous_variant,p.=,ENST00000372899,NM_015255.2;UBR2,synonymous_variant,p.=,ENST00000372901,;UBR2,intron_variant,,ENST00000372883,;							LOW	4311/5268		UBR2_HUMAN			Transcript			.	ENSP00000361990		CCDS4870.1			1	
VPS13C	0	LGGM	GRCh37	15	62241739	62241739	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	88	13	.	.	ENST00000261517.5:c.4662A>G	p.Leu1554=	p.L1554=	ENST00000261517	NM_020821.2	1554	ttA/ttG	0	1	1	UPI000023B7D3	0		ENST00000261517		ENSG00000129003	23594		101			HGNC	p.L1554L	rs769619752	VPS13C	0.000121	SNV							ENST00000261517	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166		L		C		4736/13400				B4E2S9_HUMAN,B3KW10_HUMAN			YES	VPS13C,synonymous_variant,p.=,ENST00000261517,NM_020821.2;VPS13C,synonymous_variant,p.=,ENST00000249837,NM_017684.4;VPS13C,synonymous_variant,p.=,ENST00000395896,NM_001018088.2;VPS13C,synonymous_variant,p.=,ENST00000395898,NM_018080.3;VPS13C,downstream_gene_variant,,ENST00000558088,;							LOW	4662/11262		VP13C_HUMAN			Transcript			.	ENSP00000261517	1.65E-05	CCDS32257.1			1	
OBSCN	0	LGGM	GRCh37	1	228471218	228471218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	82	13	.	.	ENST00000570156.2:c.10039T>C	p.Phe3347Leu	p.F3347L	ENST00000570156	NM_001271223.2	3347	Ttc/Ctc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=2916&to=3000&var=F2918L	ENST00000422127		ENSG00000154358	15719		95	2.905		HGNC	p.F1765L		OBSCN		SNV							ENST00000359599	protein_coding	getma.org/?cm=var&var=hg19,1,228471218,T,C&fts=all		hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		F/L		C	medium	8796/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=2916&re=3000&var=F2918L						OBSCN,missense_variant,p.Phe3347Leu,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Phe37Leu,ENST00000366707,;OBSCN,missense_variant,p.Phe2918Leu,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Phe2918Leu,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Phe37Leu,ENST00000366709,;OBSCN,missense_variant,p.Phe1765Leu,ENST00000359599,;OBSCN,missense_variant,p.Phe194Leu,ENST00000483539,;OBSCN,missense_variant,p.Phe766Leu,ENST00000366706,;OBSCN,non_coding_transcript_exon_variant,,ENST00000366704,;							MODERATE	8752/23907	F2918L	OBSCN_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000409493		CCDS58065.1			1	
UBE2D4	0	LGGM	GRCh37	7	43988349	43988349	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	143	13	.	.	ENST00000222402.3:c.304+13A>G		*102*	ENST00000222402	NM_015983.3			0	1	1	UPI000007403F	0		ENST00000222402		ENSG00000078967	21647		156			HGNC	p.D106G		UBE2D4		SNV							ENST00000446008	protein_coding							G		-/3974				F8WCA2_HUMAN			YES	UBE2D4,missense_variant,p.Asp106Gly,ENST00000446008,;UBE2D4,intron_variant,,ENST00000222402,NM_015983.3;UBE2D4,intron_variant,,ENST00000394798,;POLR2J4,intron_variant,,ENST00000427076,;RP5-1165K10.2,downstream_gene_variant,,ENST00000454572,;UBE2D4,3_prime_UTR_variant,,ENST00000443780,;UBE2D4,intron_variant,,ENST00000440652,;UBE2D4,intron_variant,,ENST00000440899,;UBE2D4,intron_variant,,ENST00000415051,;UBE2D4,intron_variant,,ENST00000450743,;UBE2D4,intron_variant,,ENST00000454350,;UBE2D4,intron_variant,,ENST00000491770,;UBE2D4,intron_variant,,ENST00000473007,;UBE2D4,downstream_gene_variant,,ENST00000454428,;							MODIFIER	-/444		UB2D4_HUMAN			Transcript			.	ENSP00000222402		CCDS5474.1			1	
LTBP1	0	LGGM	GRCh37	2	33505186	33505186	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	44	13	.	.	ENST00000404816.2:c.3073T>C	p.Cys1025Arg	p.C1025R	ENST00000404816		1025	Tgc/Cgc	0	1	1	UPI000173A4A4	0	NA	ENST00000404816		ENSG00000049323	6714		57	4.24		HGNC	p.C700R		LTBP1		SNV							ENST00000390003	protein_coding	getma.org/?cm=var&var=hg19,2,33505186,T,C&fts=all		hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184		C/R		C	high	3426/6333		getma.org/?cm=msa&ty=f&p=LTBP1_HUMAN&rb=998&re=1036&var=C1025R	deleterious(0)	H7C2H7_HUMAN			YES	LTBP1,missense_variant,p.Cys1025Arg,ENST00000404816,;LTBP1,missense_variant,p.Cys1026Arg,ENST00000354476,NM_206943.2;LTBP1,missense_variant,p.Cys700Arg,ENST00000390003,NM_000627.3;LTBP1,missense_variant,p.Cys699Arg,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Cys646Arg,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Cys699Arg,ENST00000407925,;LTBP1,missense_variant,p.Cys646Arg,ENST00000402934,;LTBP1,missense_variant,p.Cys33Arg,ENST00000415140,;							MODERATE	3073/5166	C1025R	LTBP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386043		CCDS33177.2			1	
TROVE2	0	LGGM	GRCh37	1	193045078	193045078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	51	13	.	.	ENST00000367446.3:c.709C>T	p.Arg237Cys	p.R237C	ENST00000367446	NM_004600.5	237	Cgc/Tgc	0	1		UPI0000072E7F	0	getma.org/pdb.php?prot=RO60_HUMAN&from=16&to=369&var=R237C	ENST00000367441		ENSG00000116747	11313		64	1.04		HGNC	p.R237C	rs763830792,COSM258247	TROVE2		SNV						0,1	ENST00000367446	protein_coding	getma.org/?cm=var&var=hg19,1,193045078,C,T&fts=all		Superfamily_domains:0051422,Pfam_domain:PF05731,PROSITE_profiles:PS50988,hmmpanther:PTHR14202,hmmpanther:PTHR14202:SF0		R/C		T	low	748/1791	1.50E-05	getma.org/?cm=msa&ty=f&p=RO60_HUMAN&rb=16&re=369&var=R237C	deleterious(0.02)	G5E9R9_HUMAN,D6RDN1_HUMAN				TROVE2,missense_variant,p.Arg237Cys,ENST00000367446,NM_004600.5;TROVE2,missense_variant,p.Arg237Cys,ENST00000400968,NM_001173524.1;TROVE2,missense_variant,p.Arg237Cys,ENST00000367443,NM_001173525.1;TROVE2,missense_variant,p.Arg237Cys,ENST00000367445,NM_001042370.2;TROVE2,missense_variant,p.Arg237Cys,ENST00000367444,NM_001042369.2;TROVE2,missense_variant,p.Arg237Cys,ENST00000367441,;TROVE2,5_prime_UTR_variant,,ENST00000432079,;TROVE2,5_prime_UTR_variant,,ENST00000416058,;TROVE2,downstream_gene_variant,,ENST00000512587,;TROVE2,downstream_gene_variant,,ENST00000415442,;TROVE2,intron_variant,,ENST00000460715,;					0,1		MODERATE	709/1617	R237C	RO60_HUMAN			Transcript		possibly_damaging(0.668)	.	ENSP00000356411	8.28E-06	CCDS1379.1			1	
RLF	0	LGGM	GRCh37	1	40703522	40703522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	46	14	.	.	ENST00000372771.4:c.3148G>A	p.Ala1050Thr	p.A1050T	ENST00000372771	NM_012421.3	1050	Gct/Act	0	1	1	UPI000013C9DA	0	NA	ENST00000372771		ENSG00000117000	10025		60	1.1		HGNC	p.A1050T		RLF		SNV							ENST00000372771	protein_coding	getma.org/?cm=var&var=hg19,1,40703522,G,A&fts=all		hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507		A/T		A	low	3175/6246		getma.org/?cm=msa&ty=f&p=RLF_HUMAN&rb=980&re=1171&var=A1050T	tolerated(0.57)				YES	RLF,missense_variant,p.Ala1050Thr,ENST00000372771,NM_012421.3;							MODERATE	3148/5745	A1050T	RLF_HUMAN			Transcript		benign(0.013)	.	ENSP00000361857		CCDS448.1			1	
BAZ2B	0	LGGM	GRCh37	2	160182258	160182258	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	76	15	.	.	ENST00000392783.2:c.6115G>T	p.Glu2039Ter	p.E2039*	ENST00000392783	NM_013450.2	2039	Gag/Tag	0	1	1	UPI0000D74C4A	0	NA	ENST00000392783		ENSG00000123636	963		91	0		HGNC	p.E1939X		BAZ2B		SNV							ENST00000343439	protein_coding	getma.org/?cm=var&var=hg19,2,160182258,C,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144		E/*		A	NA	6611/8289		NA		Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,stop_gained,p.Glu2039Ter,ENST00000392783,NM_013450.2;BAZ2B,stop_gained,p.Glu2003Ter,ENST00000392782,;BAZ2B,stop_gained,p.Glu2005Ter,ENST00000355831,;BAZ2B,stop_gained,p.Glu1939Ter,ENST00000343439,;BAZ2B,downstream_gene_variant,,ENST00000474437,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000548440,;							HIGH	6115/6507	E2039*	BAZ2B_HUMAN			Transcript			.	ENSP00000376534		CCDS2209.2			1	
BRWD1	0	LGGM	GRCh37	21	40569307	40569307	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	65	16	.	.	ENST00000333229.2:c.5688A>C	p.Lys1896Asn	p.K1896N	ENST00000333229	NM_018963.4	1896	aaA/aaC	0	1	1	UPI0000163C12	0	NA	ENST00000333229		ENSG00000185658	12760		81	2.325		HGNC	p.K1896N		BRWD1		SNV							ENST00000380800	protein_coding	getma.org/?cm=var&var=hg19,21,40569307,T,G&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26		K/N		G	medium	6016/10141		getma.org/?cm=msa&ty=f&p=BRWD1_HUMAN&rb=1431&re=2318&var=K1896N	deleterious_low_confidence(0.01)				YES	BRWD1,missense_variant,p.Lys1896Asn,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Lys1896Asn,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Lys1896Asn,ENST00000380800,;BRWD1,downstream_gene_variant,,ENST00000424441,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,downstream_gene_variant,,ENST00000491564,;							MODERATE	5688/6963	K1896N	BRWD1_HUMAN			Transcript		benign(0.019)	.	ENSP00000330753		CCDS13662.1			1	
TMEM86A	0	LGGM	GRCh37	11	18722608	18722608	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	76	16	.	.	ENST00000280734.2:c.150C>G	p.Leu50=	p.L50=	ENST00000280734	NM_153347.1	50	ctC/ctG	0	1	1	UPI0000073C65	0		ENST00000280734		ENSG00000151117	26890		92			HGNC	p.L50L		TMEM86A		SNV							ENST00000535380	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR31885,hmmpanther:PTHR31885:SF2,Pfam_domain:PF07947		L		G		246/3595							YES	TMEM86A,synonymous_variant,p.=,ENST00000280734,NM_153347.1;IGSF22,downstream_gene_variant,,ENST00000513874,NM_173588.3;TMEM86A,non_coding_transcript_exon_variant,,ENST00000527002,;TMEM86A,non_coding_transcript_exon_variant,,ENST00000524888,;TMEM86A,non_coding_transcript_exon_variant,,ENST00000533987,;TMEM86A,non_coding_transcript_exon_variant,,ENST00000529240,;IGSF22,downstream_gene_variant,,ENST00000510673,;IGSF22,downstream_gene_variant,,ENST00000319338,;							LOW	150/723		TM86A_HUMAN			Transcript			.	ENSP00000280734		CCDS7844.1			1	
MACF1	0	LGGM	GRCh37	1	39747986	39747986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	59	16	.	.	ENST00000545844.1:c.650C>A	p.Thr217Asn	p.T217N	ENST00000545844		217	aCc/aAc	0	1		UPI0001F78894	0	getma.org/pdb.php?prot=F8W8Q1_HUMAN&from=201&to=400&var=T217N	ENST00000372915		ENSG00000127603	13664		75	1.33		HGNC	p.T212N		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39747986,C,A&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00033,Superfamily_domains:SSF47576		T/N		A	low	737/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=201&re=400&var=T217N		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Thr212Asn,ENST00000564288,;MACF1,missense_variant,p.Thr249Asn,ENST00000567887,;MACF1,missense_variant,p.Thr217Asn,ENST00000372915,;MACF1,missense_variant,p.Thr217Asn,ENST00000545844,;MACF1,missense_variant,p.Thr217Asn,ENST00000317713,;MACF1,missense_variant,p.Thr217Asn,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Thr217Asn,ENST00000539005,;MACF1,missense_variant,p.Thr366Asn,ENST00000530262,;MACF1,missense_variant,p.Thr175Asn,ENST00000524432,;MACF1,missense_variant,p.Thr180Asn,ENST00000536367,;MACF1,missense_variant,p.Thr377Asn,ENST00000496804,;MACF1,upstream_gene_variant,,ENST00000484393,;MACF1,upstream_gene_variant,,ENST00000472385,;MACF1,upstream_gene_variant,,ENST00000485063,;							MODERATE	650/22167	T217N	MACF1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362006					1	
MSANTD4	0	LGGM	GRCh37	11	105881544	105881544	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	89	16	.	.	ENST00000301919.4:c.101A>T	p.Lys34Met	p.K34M	ENST00000301919	NM_032424.1	34	aAg/aTg	0	1	1	UPI0000073CF1	0	NA	ENST00000301919		ENSG00000170903	29383		105	0.805		HGNC	p.K34M		MSANTD4		SNV							ENST00000530788	protein_coding	getma.org/?cm=var&var=hg19,11,105881544,T,A&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF13873,hmmpanther:PTHR21732		K/M		A	low	1517/4087		getma.org/?cm=msa&ty=f&p=MSD4_HUMAN&rb=4&re=77&var=K34M	deleterious(0.01)	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN			YES	MSANTD4,missense_variant,p.Lys34Met,ENST00000301919,NM_032424.1;MSANTD4,missense_variant,p.Lys34Met,ENST00000530788,;MSANTD4,missense_variant,p.Lys34Met,ENST00000530108,;MSANTD4,missense_variant,p.Lys34Met,ENST00000534458,;MSANTD4,upstream_gene_variant,,ENST00000529805,;							MODERATE	101/1038	K34M	MSD4_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000304713		CCDS31663.1			1	
ARID2	0	LGGM	GRCh37	12	46240644	46240644	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	51	16	.	.	ENST00000334344.6:c.1504A>T	p.Arg502Ter	p.R502*	ENST00000334344	NM_152641.2	502	Aga/Tga	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		67	0		HGNC	p.R353X		ARID2		SNV							ENST00000422737	protein_coding	getma.org/?cm=var&var=hg19,12,46240644,A,T&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14,Low_complexity_(Seg):seg		R/*		T	NA	1676/8642		NA		Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,stop_gained,p.Arg502Ter,ENST00000334344,NM_152641.2;ARID2,stop_gained,p.Arg112Ter,ENST00000444670,;ARID2,stop_gained,p.Arg353Ter,ENST00000422737,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,downstream_gene_variant,,ENST00000480128,;							HIGH	1504/5508	R502*	ARID2_HUMAN			Transcript			.	ENSP00000335044		CCDS31783.1			1	
CTNND2	0	LGGM	GRCh37	5	11411725	11411725	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	53	17	.	.	ENST00000304623.8:c.362T>A	p.Leu121His	p.L121H	ENST00000304623	NM_001332.2	121	cTc/cAc	0	1	1	UPI000013E9AB	0	NA	ENST00000304623		ENSG00000169862	2516		70	1.61		HGNC	p.L30H		CTNND2		SNV			1				ENST00000503622	protein_coding	getma.org/?cm=var&var=hg19,5,11411725,A,T&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9		L/H		T	low	552/5481		getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=86&re=285&var=L121H	deleterious(0.02)	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN			YES	CTNND2,missense_variant,p.Leu121His,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Leu121His,ENST00000359640,;CTNND2,missense_variant,p.Leu30His,ENST00000511377,;CTNND2,missense_variant,p.Leu30His,ENST00000503622,;CTNND2,missense_variant,p.Leu107His,ENST00000508761,;CTNND2,missense_variant,p.Leu30His,ENST00000513598,;CTNND2,missense_variant,p.Leu107His,ENST00000502551,;CTNND2,5_prime_UTR_variant,,ENST00000458100,;CTNND2,non_coding_transcript_exon_variant,,ENST00000511278,;CTNND2,intron_variant,,ENST00000504354,;CTNND2,missense_variant,p.Leu121His,ENST00000513588,;CTNND2,missense_variant,p.Leu121His,ENST00000504499,;							MODERATE	362/3678	L121H	CTND2_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000307134		CCDS3881.1			1	
PNLIPRP2	0	LGGM	GRCh37	10	118383584	118383584	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	87	17	.	.	ENST00000537242.1:c.178A>G	p.Thr60Ala	p.T60A	ENST00000537242	NM_005396.4	60	Aca/Gca	0	1	1	UPI0000D60FDD	0		ENST00000537242		ENSG00000165862	9157		104			HGNC	p.T60A		PNLIPRP2		SNV							ENST00000537242	protein_coding			hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00823		T/A		G		204/1479			deleterious(0)	F5H1V6_HUMAN			YES	PNLIPRP2,missense_variant,p.Thr60Ala,ENST00000537242,NM_005396.4;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000298771,;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000429325,;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000444825,;PNLIPRP2,synonymous_variant,p.=,ENST00000433618,;							MODERATE	178/1407					Transcript		possibly_damaging(0.765)	.	ENSP00000446346					1	
PAPPA	0	LGGM	GRCh37	9	119106826	119106826	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	82	17	.	.	ENST00000328252.3:c.3616G>A	p.Val1206Met	p.V1206M	ENST00000328252	NM_002581.3	1206	Gtg/Atg	0	1	1	UPI00001E0589	0	NA	ENST00000328252		ENSG00000182752	8602	8.64E-05	99	2.36		HGNC	p.V1206M	rs753588067	PAPPA		SNV							ENST00000328252	protein_coding	getma.org/?cm=var&var=hg19,9,119106826,G,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347		V/M		A	medium	3985/10959		getma.org/?cm=msa&ty=f&p=PAPP1_HUMAN&rb=1061&re=1260&var=V1206M	deleterious(0.01)	Q5QFB7_HUMAN,F5GZ19_HUMAN			YES	PAPPA,missense_variant,p.Val1206Met,ENST00000328252,NM_002581.3;PAPPA,missense_variant,p.Val244Met,ENST00000534838,;							MODERATE	3616/4884	V1206M	PAPP1_HUMAN			Transcript		possibly_damaging(0.623)	.	ENSP00000330658	8.24E-06	CCDS6813.1			1	
HERC1	0	LGGM	GRCh37	15	63966829	63966829	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	93	17	.	.	ENST00000443617.2:c.7558A>C	p.Ser2520Arg	p.S2520R	ENST00000443617	NM_003922.3	2520	Agt/Cgt	0	1	1	UPI0000212760	0	NA	ENST00000443617		ENSG00000103657	4867		110	0.55		HGNC	p.S2520R		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,63966829,T,G&fts=all		hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870		S/R		G	neutral	7646/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=2393&re=2592&var=S2520R		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Ser2520Arg,ENST00000443617,NM_003922.3;HERC1,downstream_gene_variant,,ENST00000559715,;RP11-317G6.1,upstream_gene_variant,,ENST00000559303,;							MODERATE	7558/14586	S2520R	HERC1_HUMAN			Transcript		benign(0.039)	.	ENSP00000390158		CCDS45277.1			1	
PPP2R2B	0	LGGM	GRCh37	5	145979946	145979946	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	38	18	.	.	ENST00000336640.6:c.877A>T	p.Ser293Cys	p.S293C	ENST00000336640	NM_181676.2	293	Agc/Tgc	0	1		UPI0000EE34D6	0	getma.org/pdb.php?prot=2ABB_HUMAN&from=201&to=400&var=S290C	ENST00000394409		ENSG00000156475	9305		56	3.235		HGNC	p.S290C		PPP2R2B		SNV			1				ENST00000394411	protein_coding	getma.org/?cm=var&var=hg19,5,145979946,T,A&fts=all		hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF1,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF037309,Superfamily_domains:SSF50978,Prints_domain:PR00600		S/C		A	medium	1042/1506		getma.org/?cm=msa&ty=f&p=2ABB_HUMAN&rb=201&re=400&var=S290C	deleterious(0.01)	Q9NS07_HUMAN				PPP2R2B,missense_variant,p.Ser290Cys,ENST00000394413,;PPP2R2B,missense_variant,p.Ser290Cys,ENST00000356826,NM_181674.2;PPP2R2B,missense_variant,p.Ser356Cys,ENST00000394414,;PPP2R2B,missense_variant,p.Ser290Cys,ENST00000453001,;PPP2R2B,missense_variant,p.Ser290Cys,ENST00000394411,NM_001271948.1,NM_181675.3;PPP2R2B,missense_variant,p.Ser279Cys,ENST00000508545,;PPP2R2B,missense_variant,p.Ser279Cys,ENST00000394410,NM_181678.2;PPP2R2B,missense_variant,p.Ser296Cys,ENST00000504198,NM_001271900.1,NM_001271899.1,NM_181677.2;PPP2R2B,missense_variant,p.Ser293Cys,ENST00000336640,NM_181676.2;PPP2R2B,missense_variant,p.Ser348Cys,ENST00000394409,;PPP2R2B,upstream_gene_variant,,ENST00000512984,;CTB-99A3.1,intron_variant,,ENST00000512730,;PPP2R2B,non_coding_transcript_exon_variant,,ENST00000530902,;PPP2R2B,3_prime_UTR_variant,,ENST00000512639,;							MODERATE	1042/1506	S290C	2ABB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377931		CCDS64281.1			1	
R3HCC1L	0	LGGM	GRCh37	10	99968306	99968306	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	73	18	.	.	ENST00000298999.3:c.435G>A	p.Val145=	p.V145=	ENST00000298999	NM_014472.4	145	gtG/gtA	0	1	1	UPI00001F94F0	0		ENST00000298999		ENSG00000166024	23512	8.66E-05	91			HGNC	p.V145V	rs762380439	R3HCC1L		SNV							ENST00000298999	protein_coding			hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF2		V		A		738/3379							YES	R3HCC1L,synonymous_variant,p.=,ENST00000298999,NM_014472.4;R3HCC1L,synonymous_variant,p.=,ENST00000370584,NM_001256620.1,NM_138469.2;R3HCC1L,5_prime_UTR_variant,,ENST00000314594,NM_001256619.1;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;							LOW	435/2337		R3HCL_HUMAN			Transcript			.	ENSP00000298999	8.24E-06	CCDS31267.1			1	
VCAN	0	LGGM	GRCh37	5	82837508	82837508	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	66	18	.	.	ENST00000265077.3:c.8686A>T	p.Thr2896Ser	p.T2896S	ENST00000265077	NM_004385.4	2896	Aca/Tca	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		84	1.185		HGNC	p.T1909S		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82837508,A,T&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		T/S		T	low	9251/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2817&re=2961&var=T2896S	tolerated(0.21)				YES	VCAN,missense_variant,p.Thr2896Ser,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Thr1909Ser,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,non_coding_transcript_exon_variant,,ENST00000513899,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	8686/10191	T2896S	CSPG2_HUMAN			Transcript		benign(0.022)	.	ENSP00000265077		CCDS4060.1			1	
SLK	0	LGGM	GRCh37	10	105762308	105762308	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	56	19	.	.	ENST00000369755.3:c.1372A>G	p.Thr458Ala	p.T458A	ENST00000369755	NM_014720.2	458	Acc/Gcc	0	1	1	UPI000004B6D3	0	NA	ENST00000369755		ENSG00000065613	11088		75	1.7		HGNC	p.T458A		SLK		SNV							ENST00000335753	protein_coding	getma.org/?cm=var&var=hg19,10,105762308,A,G&fts=all		hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361		T/A		G	low	1917/7766		getma.org/?cm=msa&ty=f&p=SLK_HUMAN&rb=293&re=492&var=T458A	tolerated(0.12)				YES	SLK,missense_variant,p.Thr458Ala,ENST00000369755,NM_014720.2;SLK,missense_variant,p.Thr458Ala,ENST00000335753,;							MODERATE	1372/3708	T458A	SLK_HUMAN			Transcript		benign(0.003)	.	ENSP00000358770		CCDS7553.1			1	
ROBO1	0	LGGM	GRCh37	3	78706304	78706304	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	52	19	.	.	ENST00000464233.1:c.2558C>A	p.Ala853Glu	p.A853E	ENST00000464233	NM_002941.3	853	gCa/gAa	0	1	1	UPI00000713D9	0	getma.org/pdb.php?prot=ROBO1_HUMAN&from=776&to=864&var=A853E	ENST00000464233		ENSG00000169855	10249		71	2.73		HGNC	p.A853E		ROBO1		SNV							ENST00000464233	protein_coding	getma.org/?cm=var&var=hg19,3,78706304,G,T&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853		A/E		T	medium	2672/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=776&re=864&var=A853E	deleterious(0)				YES	ROBO1,missense_variant,p.Ala814Glu,ENST00000436010,;ROBO1,missense_variant,p.Ala853Glu,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Ala817Glu,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Ala817Glu,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,downstream_gene_variant,,ENST00000484514,;							MODERATE	2558/4956	A853E	ROBO1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000420321		CCDS54611.1			1	
ZNF678	0	LGGM	GRCh37	1	227838760	227838760	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	205	20	.	.	ENST00000343776.5:c.68A>G	p.Tyr23Cys	p.Y23C	ENST00000343776	NM_178549.3	23	tAt/tGt	0	1	1	UPI000019862A	0		ENST00000343776		ENSG00000181450	28652		225			HGNC	p.Y23C		ZNF678		SNV							ENST00000343776	protein_coding					Y/C		G		413/8556			tolerated_low_confidence(0.1)				YES	ZNF678,missense_variant,p.Tyr23Cys,ENST00000343776,NM_178549.3;ZNF678,missense_variant,p.Tyr23Cys,ENST00000608949,;ZNF678,intron_variant,,ENST00000397097,;ZNF678,intron_variant,,ENST00000440339,;ZNF678,non_coding_transcript_exon_variant,,ENST00000465266,;ZNF678,downstream_gene_variant,,ENST00000497098,;							MODERATE	68/1578		ZN678_HUMAN			Transcript		benign(0.147)	.	ENSP00000344828					1	
SLC4A7	0	LGGM	GRCh37	3	27444675	27444675	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	106	20	.	.	ENST00000295736.5:c.2249A>T	p.Tyr750Phe	p.Y750F	ENST00000295736	NM_003615.4	750	tAt/tTt	0	1	1	UPI0000DBEEB7	0	NA	ENST00000295736		ENSG00000033867	11033		126	2.115		HGNC	p.Y300F	COSM4116718,COSM4116719	SLC4A7		SNV						1,1	ENST00000388777	protein_coding	getma.org/?cm=var&var=hg19,3,27444675,T,A&fts=all		Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,TIGRFAM_domain:TIGR00834		Y/F		A	medium	2320/7757		getma.org/?cm=msa&ty=f&p=S4A7_HUMAN&rb=574&re=1088&var=Y750F	tolerated(0.19)				YES	SLC4A7,missense_variant,p.Tyr750Phe,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Tyr626Phe,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Tyr301Phe,ENST00000419036,;SLC4A7,missense_variant,p.Tyr759Phe,ENST00000454389,;SLC4A7,missense_variant,p.Tyr746Phe,ENST00000440156,;SLC4A7,missense_variant,p.Tyr746Phe,ENST00000445684,;SLC4A7,missense_variant,p.Tyr300Phe,ENST00000388777,;SLC4A7,missense_variant,p.Tyr742Phe,ENST00000446700,;SLC4A7,missense_variant,p.Tyr635Phe,ENST00000435667,;SLC4A7,missense_variant,p.Tyr631Phe,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Tyr631Phe,ENST00000437179,;SLC4A7,missense_variant,p.Tyr646Phe,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,upstream_gene_variant,,ENST00000475120,;					1,1		MODERATE	2249/3645	Y750F	S4A7_HUMAN			Transcript		benign(0.398)	.	ENSP00000295736		CCDS33721.1			1	
FMO5	0	LGGM	GRCh37	1	146687341	146687341	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	47	20	.	.	ENST00000254090.4:c.307A>C	p.Lys103Gln	p.K103Q	ENST00000254090	NM_001461.3	103	Aag/Cag	0	1	1	UPI000013CE15	0	getma.org/pdb.php?prot=FMO5_HUMAN&from=3&to=533&var=K103Q	ENST00000254090		ENSG00000131781	3773		67	1.25		HGNC	p.K103Q		FMO5		SNV							ENST00000369272	protein_coding	getma.org/?cm=var&var=hg19,1,146687341,T,G&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF48,Superfamily_domains:SSF51905		K/Q		G	low	696/2632		getma.org/?cm=msa&ty=f&p=FMO5_HUMAN&rb=3&re=533&var=K103Q	tolerated(0.12)	E9PQ84_HUMAN,E9PP51_HUMAN			YES	FMO5,missense_variant,p.Lys103Gln,ENST00000254090,NM_001461.3;FMO5,missense_variant,p.Lys103Gln,ENST00000369272,NM_001144830.2;FMO5,missense_variant,p.Lys103Gln,ENST00000441068,NM_001144829.2;FMO5,missense_variant,p.Lys103Gln,ENST00000533174,;FMO5,missense_variant,p.Lys103Gln,ENST00000533848,;RP11-337C18.8,downstream_gene_variant,,ENST00000607149,;FMO5,non_coding_transcript_exon_variant,,ENST00000465173,;FMO5,non_coding_transcript_exon_variant,,ENST00000478432,;RP11-337C18.10,intron_variant,,ENST00000606856,;FMO5,missense_variant,p.Lys103Gln,ENST00000527849,;							MODERATE	307/1602	K103Q	FMO5_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000254090		CCDS926.1			1	
KIAA1191	0	LGGM	GRCh37	5	175774623	175774623	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	76	20	.	.	ENST00000298569.4:c.898C>G	p.Leu300Val	p.L300V	ENST00000298569	NM_020444.3	300	Ctc/Gtc	0	1	1	UPI0000070560	0	NA	ENST00000298569		ENSG00000122203	29209		96	2.25		HGNC	p.L281V		KIAA1191		SNV							ENST00000393725	protein_coding	getma.org/?cm=var&var=hg19,5,175774623,G,C&fts=all		Pfam_domain:PF15302		L/V		C	medium	1432/2991		getma.org/?cm=msa&ty=f&p=K1191_HUMAN&rb=17&re=303&var=L300V	deleterious(0.01)	D6RF63_HUMAN,D6RCE3_HUMAN,D6RAJ7_HUMAN			YES	KIAA1191,missense_variant,p.Leu300Val,ENST00000298569,NM_020444.3,NM_001287336.1,NM_001287335.1;KIAA1191,missense_variant,p.Leu281Val,ENST00000393725,NM_001079684.1;KIAA1191,missense_variant,p.Leu300Val,ENST00000510164,NM_001079685.1;SIMC1,downstream_gene_variant,,ENST00000443967,;SIMC1,downstream_gene_variant,,ENST00000341199,NM_198567.4;SIMC1,downstream_gene_variant,,ENST00000430704,;SIMC1,downstream_gene_variant,,ENST00000332772,;KIAA1191,downstream_gene_variant,,ENST00000533553,;KIAA1191,downstream_gene_variant,,ENST00000506983,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,non_coding_transcript_exon_variant,,ENST00000393728,;							MODERATE	898/918	L300V	P33MX_HUMAN			Transcript		possibly_damaging(0.79)	.	ENSP00000298569		CCDS4399.1			1	
WDPCP	0	LGGM	GRCh37	2	63661063	63661063	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	38	21	.	.	ENST00000272321.7:c.641A>G	p.Tyr214Cys	p.Y214C	ENST00000272321	NM_015910.5	214	tAt/tGt	0	1	1	UPI000013D946	0	NA	ENST00000272321		ENSG00000143951	28027		59	2.19		HGNC	p.Y22C	rs753967458	WDPCP		SNV			1				ENST00000409120	protein_coding	getma.org/?cm=var&var=hg19,2,63661063,T,C&fts=all		Pfam_domain:PF11768,hmmpanther:PTHR13667,hmmpanther:PTHR13667:SF4		Y/C		C	medium	1169/3392	3.16E-05	getma.org/?cm=msa&ty=f&p=FRITZ_HUMAN&rb=79&re=622&var=Y214C	tolerated(0.13)	Q53TG5_HUMAN,Q53S85_HUMAN,Q53RX9_HUMAN,E9PFG9_HUMAN			YES	WDPCP,missense_variant,p.Tyr22Cys,ENST00000409120,;WDPCP,missense_variant,p.Tyr214Cys,ENST00000409562,;WDPCP,missense_variant,p.Tyr214Cys,ENST00000272321,NM_015910.5;WDPCP,missense_variant,p.Tyr22Cys,ENST00000409199,;WDPCP,missense_variant,p.Tyr55Cys,ENST00000398544,;WDPCP,downstream_gene_variant,,ENST00000473678,;WDPCP,non_coding_transcript_exon_variant,,ENST00000409835,;WDPCP,start_lost,p.Tyr1?,ENST00000409354,;WDPCP,3_prime_UTR_variant,,ENST00000417238,;WDPCP,non_coding_transcript_exon_variant,,ENST00000493315,;WDPCP,downstream_gene_variant,,ENST00000418148,;							MODERATE	641/2241	Y214C	FRITZ_HUMAN			Transcript		benign(0.248)	.	ENSP00000272321	1.66E-05	CCDS42688.1			1	
SERPINC1	0	LGGM	GRCh37	1	173881042	173881042	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	86	21	.	.	ENST00000367698.3:c.519A>G	p.Val173=	p.V173=	ENST00000367698	NM_000488.3	173	gtA/gtG	0	1	1	UPI000002C0C1	0		ENST00000367698		ENSG00000117601	775		107			HGNC	p.V173V		SERPINC1		SNV			1				ENST00000367698	protein_coding			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF53,SMART_domains:SM00093,Superfamily_domains:SSF56574		V		C		638/1594				Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN			YES	SERPINC1,synonymous_variant,p.=,ENST00000367698,NM_000488.3;SERPINC1,non_coding_transcript_exon_variant,,ENST00000487183,;SERPINC1,downstream_gene_variant,,ENST00000494024,;							LOW	519/1395		ANT3_HUMAN			Transcript			.	ENSP00000356671		CCDS1313.1			1	
HECW2	0	LGGM	GRCh37	2	197189791	197189791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	102	22	.	.	ENST00000260983.3:c.654G>T	p.Lys218Asn	p.K218N	ENST00000260983	NM_020760.1	218	aaG/aaT	0	1	1	UPI00001A75E8	0	NA	ENST00000260983		ENSG00000138411	29853		124	0		HGNC	p.K218N		HECW2		SNV							ENST00000260983	protein_coding	getma.org/?cm=var&var=hg19,2,197189791,C,A&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		K/N		A	neutral	837/11809		getma.org/?cm=msa&ty=f&p=HECW2_HUMAN&rb=187&re=282&var=K218N	deleterious(0.04)	C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,missense_variant,p.Lys218Asn,ENST00000260983,NM_020760.1;HECW2,5_prime_UTR_variant,,ENST00000409111,;							MODERATE	654/4719	K218N	HECW2_HUMAN			Transcript		possibly_damaging(0.721)	.	ENSP00000260983		CCDS33354.1			1	
SLK	0	LGGM	GRCh37	10	105762321	105762321	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	57	22	.	.	ENST00000369755.3:c.1385A>C	p.Asn462Thr	p.N462T	ENST00000369755	NM_014720.2	462	aAt/aCt	0	1	1	UPI000004B6D3	0	NA	ENST00000369755		ENSG00000065613	11088		79	1.7		HGNC	p.N462T		SLK		SNV							ENST00000335753	protein_coding	getma.org/?cm=var&var=hg19,10,105762321,A,C&fts=all		hmmpanther:PTHR24361:SF53,hmmpanther:PTHR24361		N/T		C	low	1930/7766		getma.org/?cm=msa&ty=f&p=SLK_HUMAN&rb=293&re=492&var=N462T	tolerated(0.1)				YES	SLK,missense_variant,p.Asn462Thr,ENST00000369755,NM_014720.2;SLK,missense_variant,p.Asn462Thr,ENST00000335753,;							MODERATE	1385/3708	N462T	SLK_HUMAN			Transcript		benign(0.14)	.	ENSP00000358770		CCDS7553.1			1	
KIAA1432	0	LGGM	GRCh37	9	5732452	5732452	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	75	23	.	.	ENST00000414202.2:c.785A>G	p.Tyr262Cys	p.Y262C	ENST00000414202	NM_001206557.1	262	tAt/tGt	0	1	1	UPI00002110DE	0	NA	ENST00000414202		ENSG00000107036	17686		98	2.445		HGNC	p.Y262C		KIAA1432		SNV							ENST00000251879	protein_coding	getma.org/?cm=var&var=hg19,9,5732452,A,G&fts=all		hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		Y/C		G	medium	976/6774		getma.org/?cm=msa&ty=f&p=RIC1_HUMAN&rb=201&re=400&var=Y262C	deleterious(0)				YES	KIAA1432,missense_variant,p.Tyr262Cys,ENST00000414202,NM_001206557.1,NM_020829.3;KIAA1432,missense_variant,p.Tyr183Cys,ENST00000418622,;KIAA1432,missense_variant,p.Tyr262Cys,ENST00000251879,NM_001135920.2;KIAA1432,missense_variant,p.Tyr183Cys,ENST00000449720,;KIAA1432,missense_variant,p.Tyr191Cys,ENST00000545641,;KIAA1432,missense_variant,p.Tyr183Cys,ENST00000381532,;KIAA1432,non_coding_transcript_exon_variant,,ENST00000276898,;							MODERATE	785/4272	Y262C	RIC1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000416696		CCDS34982.2			1	
MSR1	0	LGGM	GRCh37	8	16026236	16026236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	105	25	.	.	ENST00000262101.5:c.361A>T	p.Met121Leu	p.M121L	ENST00000262101		121	Atg/Ttg	0	1	1	UPI000012F686	0	NA	ENST00000262101		ENSG00000038945	7376		130	1.21		HGNC	p.M121L		MSR1		SNV			1				ENST00000262101	protein_coding	getma.org/?cm=var&var=hg19,8,16026236,T,A&fts=all		hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Pfam_domain:PF03523,Prints_domain:PR01408		M/L		A	low	483/2132		getma.org/?cm=msa&ty=f&p=MSRE_HUMAN&rb=121&re=169&var=M121L	tolerated(1)	E5RFW8_HUMAN			YES	MSR1,missense_variant,p.Met121Leu,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,missense_variant,p.Met121Leu,ENST00000381998,NM_002445.3;MSR1,missense_variant,p.Met121Leu,ENST00000262101,;MSR1,missense_variant,p.Met139Leu,ENST00000445506,;MSR1,missense_variant,p.Met121Leu,ENST00000355282,;MSR1,intron_variant,,ENST00000536385,;MSR1,upstream_gene_variant,,ENST00000522672,;MSR1,intron_variant,,ENST00000519060,;							MODERATE	361/1356	M121L	MSRE_HUMAN			Transcript		benign(0.009)	.	ENSP00000262101		CCDS5995.1			1	
CTDSPL2	0	LGGM	GRCh37	15	44783131	44783131	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	105	25	.	.	ENST00000260327.4:c.625C>G	p.Pro209Ala	p.P209A	ENST00000260327	NM_016396.2	209	Cca/Gca	0	1	1	UPI000004A0B3	0	NA	ENST00000260327		ENSG00000137770	26936		130	0.895		HGNC	p.P209A		CTDSPL2		SNV							ENST00000558966	protein_coding	getma.org/?cm=var&var=hg19,15,44783131,C,G&fts=all		hmmpanther:PTHR12210		P/A		G	low	1188/6828		getma.org/?cm=msa&ty=f&p=CTSL2_HUMAN&rb=1&re=243&var=P209A	tolerated(0.48)	H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN			YES	CTDSPL2,missense_variant,p.Pro209Ala,ENST00000260327,NM_016396.2;CTDSPL2,missense_variant,p.Pro209Ala,ENST00000558966,;CTDSPL2,intron_variant,,ENST00000396780,;CTDSPL2,intron_variant,,ENST00000558373,;CTDSPL2,downstream_gene_variant,,ENST00000558791,;CTDSPL2,downstream_gene_variant,,ENST00000559793,;CTDSPL2,upstream_gene_variant,,ENST00000561189,;							MODERATE	625/1401	P209A	CTSL2_HUMAN			Transcript		benign(0)	.	ENSP00000260327		CCDS10110.1			1	
HEG1	0	LGGM	GRCh37	3	124692712	124692712	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	93	26	.	.	ENST00000311127.4:c.3859A>T	p.Ser1287Cys	p.S1287C	ENST00000311127	NM_020733.1	1287	Agt/Tgt	0	1	1	UPI00006C069B	0	NA	ENST00000311127		ENSG00000173706	29227		119	0.695		HGNC	p.S171C		HEG1		SNV							ENST00000487661	protein_coding	getma.org/?cm=var&var=hg19,3,124692712,T,A&fts=all		hmmpanther:PTHR24037:SF2,hmmpanther:PTHR24037		S/C		A	neutral	3927/9156		getma.org/?cm=msa&ty=f&p=HEG1_HUMAN&rb=1246&re=1379&var=S1287C	deleterious(0)				YES	HEG1,missense_variant,p.Ser1287Cys,ENST00000311127,NM_020733.1;HEG1,missense_variant,p.Ser171Cys,ENST00000487661,;HEG1,upstream_gene_variant,,ENST00000480667,;HEG1,missense_variant,p.Ser14Cys,ENST00000482699,;							MODERATE	3859/4146	S1287C	HEG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000311502		CCDS46898.1			1	
MYBPC1	0	LGGM	GRCh37	12	102071968	102071968	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	125	27	.	.	ENST00000452455.2:c.3177A>T	p.Ile1059=	p.I1059=	ENST00000452455	NM_001254718.1	1059	atA/atT	0	1		UPI000012FBC7	0		ENST00000550270		ENSG00000196091	7549		152			HGNC	p.I1059I		MYBPC1		SNV			1				ENST00000452455	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF43,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		I		T		3177/3426				F8W1Z9_HUMAN				MYBPC1,synonymous_variant,p.=,ENST00000549145,;MYBPC1,synonymous_variant,p.=,ENST00000551300,;MYBPC1,synonymous_variant,p.=,ENST00000441232,NM_001254719.1;MYBPC1,synonymous_variant,p.=,ENST00000361466,NM_002465.3;MYBPC1,synonymous_variant,p.=,ENST00000361685,NM_206819.2;MYBPC1,synonymous_variant,p.=,ENST00000452455,NM_001254718.1;MYBPC1,synonymous_variant,p.=,ENST00000360610,NM_206820.2;MYBPC1,synonymous_variant,p.=,ENST00000547405,NM_001254722.1;MYBPC1,synonymous_variant,p.=,ENST00000553190,NM_206821.2;MYBPC1,synonymous_variant,p.=,ENST00000547509,;MYBPC1,synonymous_variant,p.=,ENST00000392934,NM_001254723.1;MYBPC1,synonymous_variant,p.=,ENST00000545503,;MYBPC1,synonymous_variant,p.=,ENST00000541119,NM_001254720.1;MYBPC1,synonymous_variant,p.=,ENST00000536007,NM_001254721.1;MYBPC1,synonymous_variant,p.=,ENST00000550270,;MYBPC1,intron_variant,,ENST00000550501,;MYBPC1,downstream_gene_variant,,ENST00000548298,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000549608,;							LOW	3177/3426		MYPC1_HUMAN			Transcript			.	ENSP00000449702		CCDS9085.1			1	
MUC7	0	LGGM	GRCh37	4	71346980	71346980	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	102	28	.	.	ENST00000413702.1:c.519T>A	p.Ser173=	p.S173=	ENST00000413702	NM_001145006.1	173	tcT/tcA	0	1		UPI000013E9DD	0		ENST00000304887		ENSG00000171195	7518		130			HGNC	p.S173S		MUC7		SNV			1				ENST00000456088	protein_coding			Low_complexity_(Seg):seg		S		A		709/2443				D6RHX1_HUMAN				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,downstream_gene_variant,,ENST00000505411,;MUC7,non_coding_transcript_exon_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;							LOW	519/1134		MUC7_HUMAN			Transcript			.	ENSP00000302021		CCDS3541.1			1	
DMPK	0	LGGM	GRCh37	19	46283038	46283038	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	46	30	.	.	ENST00000343373.4:c.280G>A	p.Glu94Lys	p.E94K	ENST00000343373	NM_001081563.1	94	Gag/Aag	0	1		UPI0000223FEB	0	getma.org/pdb.php?prot=DMPK_HUMAN&from=81&to=349&var=E84K	ENST00000291270		ENSG00000104936	2933		76	0.055		HGNC	p.E84K		DMPK		SNV			1				ENST00000458663	protein_coding	getma.org/?cm=var&var=hg19,19,46283038,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF142,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/K		T	neutral	376/2787		getma.org/?cm=msa&ty=f&p=DMPK_HUMAN&rb=81&re=349&var=E84K	deleterious(0)	E5KR06_HUMAN				DMPK,missense_variant,p.Glu94Lys,ENST00000600757,;DMPK,missense_variant,p.Glu94Lys,ENST00000343373,NM_001081563.1;DMPK,missense_variant,p.Glu84Lys,ENST00000291270,NM_004409.3;DMPK,missense_variant,p.Glu84Lys,ENST00000447742,NM_001081562.1,NM_001081560.1;DMPK,missense_variant,p.Glu84Lys,ENST00000458663,;DMPK,missense_variant,p.Glu84Lys,ENST00000354227,NM_001288766.1;DMPK,missense_variant,p.Glu63Lys,ENST00000596067,;AC011530.4,missense_variant,p.Glu115Lys,ENST00000596586,;AC011530.4,missense_variant,p.Glu90Lys,ENST00000595946,;DMWD,downstream_gene_variant,,ENST00000270223,NM_004943.1;DMWD,downstream_gene_variant,,ENST00000377735,;DMWD,downstream_gene_variant,,ENST00000537879,;DMPK,upstream_gene_variant,,ENST00000593574,;DMPK,upstream_gene_variant,,ENST00000595361,;DMPK,upstream_gene_variant,,ENST00000596920,;DMPK,splice_region_variant,,ENST00000588522,NM_001288765.1,NM_001288764.1;DMPK,splice_region_variant,,ENST00000598180,;AC011530.4,splice_region_variant,,ENST00000593999,;AC011530.4,splice_region_variant,,ENST00000597712,;DMPK,upstream_gene_variant,,ENST00000596686,;DMPK,upstream_gene_variant,,ENST00000598191,;DMPK,upstream_gene_variant,,ENST00000600370,;DMPK,upstream_gene_variant,,ENST00000599392,;DMPK,upstream_gene_variant,,ENST00000599002,;							MODERATE	250/1890	E84K	DMPK_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000291270		CCDS12674.1			1	
ZSCAN31	0	LGGM	GRCh37	6	28294123	28294123	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	206	32	.	.	ENST00000414429.1:c.1041A>G	p.Gly347=	p.G347=	ENST00000414429		347	ggA/ggG	0	1		UPI000013C358	0		ENST00000344279		ENSG00000235109	14097		238			HGNC	p.G347G		ZSCAN31		SNV							ENST00000344279	protein_coding			Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF48,PROSITE_profiles:PS50157		G		C		1220/2619				Q96QL1_HUMAN,C9JUE1_HUMAN,C9JPM5_HUMAN,C9JIC2_HUMAN,C9JHB1_HUMAN,C9JH14_HUMAN,C9JAI0_HUMAN,C9J6S7_HUMAN,C9J423_HUMAN,C9IYT1_HUMAN				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.=,ENST00000446474,NM_001243243.1,NM_001243244.1,NM_001243242.1;ZSCAN31,synonymous_variant,p.=,ENST00000435857,;ZSCAN31,downstream_gene_variant,,ENST00000453745,;ZSCAN31,downstream_gene_variant,,ENST00000446222,;ZSCAN31,downstream_gene_variant,,ENST00000434036,;ZSCAN31,downstream_gene_variant,,ENST00000439636,;ZSCAN31,downstream_gene_variant,,ENST00000447021,;ZSCAN31,downstream_gene_variant,,ENST00000439628,;ZSCAN31,downstream_gene_variant,,ENST00000426756,;ZSCAN31,downstream_gene_variant,,ENST00000426434,;ZSCAN31,downstream_gene_variant,,ENST00000414431,;ZSCAN31,downstream_gene_variant,,ENST00000444081,;ZSCAN31,non_coding_transcript_exon_variant,,ENST00000481934,;							LOW	1041/1221		ZSC31_HUMAN			Transcript			.	ENSP00000345339		CCDS4649.1			1	
ASXL3	0	LGGM	GRCh37	18	31319680	31319680	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050493	H050493N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	91	33	.	.	ENST00000269197.5:c.2312C>A	p.Ser771Ter	p.S771*	ENST00000269197	NM_030632.1	771	tCa/tAa	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		124	0		HGNC	p.S771X		ASXL3		SNV			1				ENST00000269197	protein_coding	getma.org/?cm=var&var=hg19,18,31319680,C,A&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		S/*		A	NA	2312/11344		NA		K7EQY1_HUMAN			YES	ASXL3,stop_gained,p.Ser771Ter,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;							HIGH	2312/6747	S771*	ASXL3_HUMAN			Transcript			.	ENSP00000269197		CCDS45847.1			1	
HHLA2	0	LGGM	GRCh37	3	108074204	108074204	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	185	34	.	.	ENST00000357759.5:c.661T>A	p.Trp221Arg	p.W221R	ENST00000357759	NM_007072.2	221	Tgg/Agg	0	1	1	UPI0000073CD9	0	NA	ENST00000357759		ENSG00000114455	4905		219	1.04		HGNC	p.W157R		HHLA2		SNV							ENST00000467562	protein_coding	getma.org/?cm=var&var=hg19,3,108074204,T,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF44,Superfamily_domains:SSF48726		W/R		A	low	1075/2666		getma.org/?cm=msa&ty=f&p=HHLA2_HUMAN&rb=145&re=222&var=W221R	deleterious(0)	C9JY43_HUMAN,C9JY13_HUMAN,C9JD07_HUMAN,C9J8J7_HUMAN			YES	HHLA2,missense_variant,p.Trp221Arg,ENST00000357759,NM_007072.2;HHLA2,missense_variant,p.Trp124Arg,ENST00000482099,;HHLA2,missense_variant,p.Trp221Arg,ENST00000489514,NM_001282557.1;HHLA2,missense_variant,p.Trp221Arg,ENST00000467761,NM_001282556.1;HHLA2,missense_variant,p.Trp157Arg,ENST00000467562,NM_001282559.1;HHLA2,missense_variant,p.Trp221Arg,ENST00000491820,NM_001282558.1;HHLA2,downstream_gene_variant,,ENST00000463019,;HHLA2,downstream_gene_variant,,ENST00000462629,;HHLA2,downstream_gene_variant,,ENST00000482430,;HHLA2,downstream_gene_variant,,ENST00000467282,;							MODERATE	661/1245	W221R	HHLA2_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000350402		CCDS46883.1			1	
OBSCN	0	LGGM	GRCh37	1	228487730	228487730	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	94	34	.	.	ENST00000570156.2:c.13622T>A	p.Leu4541Gln	p.L4541Q	ENST00000570156	NM_001271223.2	4541	cTg/cAg	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		128			HGNC	p.L4296Q	rs757870527	OBSCN		SNV							ENST00000570156	protein_coding							A		-/24030								OBSCN,missense_variant,p.Leu4541Gln,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Leu1231Gln,ENST00000366707,;OBSCN,missense_variant,p.Leu1388Gln,ENST00000483539,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000422127,NM_001098623.2;OBSCN,intron_variant,,ENST00000284548,NM_052843.3;OBSCN,intron_variant,,ENST00000366709,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,non_coding_transcript_exon_variant,,ENST00000602685,;OBSCN,downstream_gene_variant,,ENST00000494839,;OBSCN,upstream_gene_variant,,ENST00000602832,;	0.000235						MODIFIER	-/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493	1.65E-05	CCDS58065.1			1	
MUC12	0	LGGM	GRCh37	7	100647954	100647954	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	171	35	.	.	ENST00000536621.1:c.14110A>T	p.Thr4704Ser	p.T4704S	ENST00000536621	NM_001164462.1	4704	Acc/Tcc	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		206	0		HGNC	p.T4704S		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100647954,A,T&fts=all				T/S		T	neutral	14539/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=T4847S						MUC12,missense_variant,p.Thr4847Ser,ENST00000379442,;MUC12,missense_variant,p.Thr4704Ser,ENST00000536621,NM_001164462.1;							MODERATE	14539/16437	T4847S	MUC12_HUMAN			Transcript		benign(0.114)	.	ENSP00000368755					1	
TPMT	0	LGGM	GRCh37	6	18139216	18139216	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	63	40	.	.	ENST00000309983.4:c.472A>G	p.Ile158Val	p.I158V	ENST00000309983	NM_000367.2	158	Atc/Gtc	0	1	1	UPI0000137261	0	getma.org/pdb.php?prot=TPMT_HUMAN&from=24&to=245&var=I158V	ENST00000309983		ENSG00000137364	12014		103	0.04		HGNC	p.I158V	rs369077559	TPMT		SNV	C:0		1				ENST00000309983	protein_coding	getma.org/?cm=var&var=hg19,6,18139216,T,C&fts=all		Gene3D:3.40.50.150,HAMAP:MF_00812,Pfam_domain:PF05724,PIRSF_domain:PIRSF023956,PROSITE_profiles:PS51585,hmmpanther:PTHR10259,Superfamily_domains:SSF53335		I/V	C:0.0001	C	neutral	558/3181	1.50E-05	getma.org/?cm=msa&ty=f&p=TPMT_HUMAN&rb=24&re=245&var=I158V	tolerated(0.46)				YES	TPMT,missense_variant,p.Ile158Val,ENST00000309983,NM_000367.2;							MODERATE	472/738	I158V	TPMT_HUMAN			Transcript		benign(0.014)	.	ENSP00000312304	8.24E-06	CCDS4543.1			1	
ASB15	0	LGGM	GRCh37	7	123257705	123257705	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	79	41	.	.	ENST00000451558.1:c.365G>C	p.Gly122Ala	p.G122A	ENST00000451558		122	gGt/gCt	0	1		UPI000022D0FF	0	getma.org/pdb.php?prot=ASB15_HUMAN&from=89&to=173&var=G122A	ENST00000275699		ENSG00000146809	19767		120	2.47		HGNC	p.G122A		ASB15		SNV							ENST00000540573	protein_coding	getma.org/?cm=var&var=hg19,7,123257705,G,C&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF0,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		G/A		C	medium	407/2706		getma.org/?cm=msa&ty=f&p=ASB15_HUMAN&rb=89&re=173&var=G122A	deleterious(0.03)	C9J956_HUMAN				ASB15,missense_variant,p.Gly122Ala,ENST00000451558,;ASB15,missense_variant,p.Gly122Ala,ENST00000451215,;ASB15,missense_variant,p.Gly122Ala,ENST00000434204,;ASB15,missense_variant,p.Gly122Ala,ENST00000540573,;ASB15,missense_variant,p.Gly122Ala,ENST00000275699,NM_080928.3;ASB15,missense_variant,p.Gly122Ala,ENST00000447789,;ASB15,downstream_gene_variant,,ENST00000437535,;RP11-390E23.3,intron_variant,,ENST00000418409,;RP11-390E23.3,intron_variant,,ENST00000440504,;RP11-390E23.3,intron_variant,,ENST00000422401,;RP11-390E23.3,downstream_gene_variant,,ENST00000429396,;							MODERATE	365/1767	G122A	ASB15_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000275699		CCDS34742.1			1	
OXCT1	0	LGGM	GRCh37	5	41794156	41794156	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	103	42	.	.	ENST00000196371.5:c.1197A>G	p.Leu399=	p.L399=	ENST00000196371	NM_000436.3	399	ctA/ctG	0	1	1	UPI0000000C9A	0		ENST00000196371		ENSG00000083720	8527		145			HGNC	p.L2L		OXCT1		SNV			1				ENST00000512084	protein_coding			hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF30,Pfam_domain:PF01144,TIGRFAM_domain:TIGR02428,Gene3D:3.40.810.20,PIRSF_domain:PIRSF000858,SMART_domains:SM00882,Superfamily_domains:SSF100950		L		C		1358/3388				B7Z528_HUMAN,A1E286_HUMAN			YES	OXCT1,synonymous_variant,p.=,ENST00000196371,NM_000436.3;OXCT1,synonymous_variant,p.=,ENST00000512084,;OXCT1,synonymous_variant,p.=,ENST00000510634,;OXCT1,synonymous_variant,p.=,ENST00000509987,;OXCT1,non_coding_transcript_exon_variant,,ENST00000513081,;OXCT1,intron_variant,,ENST00000514723,;OXCT1,non_coding_transcript_exon_variant,,ENST00000508557,;							LOW	1197/1563		SCOT1_HUMAN			Transcript			.	ENSP00000196371		CCDS3937.1			1	
HYAL4	0	LGGM	GRCh37	7	123508762	123508762	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	50	44	.	.	ENST00000223026.4:c.435T>C	p.Asp145=	p.D145=	ENST00000223026	NM_012269.2	145	gaT/gaC	0	1	1	UPI000006F62B	0		ENST00000223026		ENSG00000106302	5323	0.000173	94			HGNC	p.D145D	rs757412454	HYAL4		SNV							ENST00000223026	protein_coding			Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,Prints_domain:PR00846,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7,Superfamily_domains:SSF51445		D		C		1073/2407				C9JU18_HUMAN,C9J6F9_HUMAN			YES	HYAL4,synonymous_variant,p.=,ENST00000223026,NM_012269.2;HYAL4,synonymous_variant,p.=,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000489978,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,synonymous_variant,p.=,ENST00000483878,;							LOW	435/1446		HYAL4_HUMAN			Transcript			.	ENSP00000223026	1.65E-05	CCDS5789.1			1	
STRIP2	0	LGGM	GRCh37	7	129125616	129125616	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050493	H050493N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	52	45	.	.	ENST00000249344.2:c.2451G>T	p.Glu817Asp	p.E817D	ENST00000249344	NM_020704.2	817	gaG/gaT	0	1	1	UPI00001C1E68	0	NA	ENST00000249344		ENSG00000128578	22209		97	1.935		HGNC	p.E817D		STRIP2		SNV							ENST00000249344	protein_coding	getma.org/?cm=var&var=hg19,7,129125616,G,T&fts=all		hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		E/D		T	medium	2491/5115		getma.org/?cm=msa&ty=f&p=FA40B_HUMAN&rb=784&re=834&var=E817D	tolerated(0.19)	A4D1K4_HUMAN			YES	STRIP2,missense_variant,p.Glu817Asp,ENST00000249344,NM_020704.2;STRIP2,downstream_gene_variant,,ENST00000435494,NM_001134336.1;RNU1-72P,downstream_gene_variant,,ENST00000362976,;							MODERATE	2451/2505	E817D	STRP2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000249344		CCDS34752.1			1	
COL6A6	0	LGGM	GRCh37	3	130381100	130381100	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050493	H050493N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	215	48	.	.	ENST00000358511.6:c.6450T>A	p.Pro2150=	p.P2150=	ENST00000358511	NM_001102608.1	2150	ccT/ccA	0	1	1	UPI00015B6548	0		ENST00000358511		ENSG00000206384	27023		263			HGNC	p.P2150P		COL6A6		SNV							ENST00000453409	protein_coding			PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Superfamily_domains:SSF53300		P		A		6481/9581							YES	COL6A6,synonymous_variant,p.=,ENST00000358511,NM_001102608.1;COL6A6,synonymous_variant,p.=,ENST00000453409,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;							LOW	6450/6792		CO6A6_HUMAN			Transcript			.	ENSP00000351310		CCDS46911.1			1	
PCDHGA1	0	LGGM	GRCh37	5	140710507	140710507	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050493	H050493N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050493N.bam, H050493T.bam	Illumina HiSeq	102	57	.	.	ENST00000517417.1:c.256A>T	p.Thr86Ser	p.T86S	ENST00000517417	NM_018912.2	86	Acc/Tcc	0	1	1	UPI0000070596	0	getma.org/pdb.php?prot=PCDG1_HUMAN&from=29&to=112&var=T86S	ENST00000517417		ENSG00000204956	8696		159	4.13		HGNC	p.T86S		PCDHGA1		SNV							ENST00000517417	protein_coding	getma.org/?cm=var&var=hg19,5,140710507,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,SMART_domains:SM00112,Superfamily_domains:SSF49313		T/S		T	high	256/4602		getma.org/?cm=msa&ty=f&p=PCDG1_HUMAN&rb=29&re=112&var=T86S	deleterious_low_confidence(0.02)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA1,missense_variant,p.Thr86Ser,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Thr86Ser,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;							MODERATE	256/2796	T86S	PCDG1_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000431083		CCDS54922.1			1	
MAN2B2	0	LGGM	GRCh37	4	6599027	6599027	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	23	2	.	.	ENST00000285599.3:c.1245C>A	p.Ser415=	p.S415=	ENST00000285599	NM_015274.1	415	tcC/tcA	0	1	1	UPI000004BF05	0		ENST00000285599		ENSG00000013288	29623		25			HGNC	p.S364S		MAN2B2		SNV							ENST00000504248	protein_coding			Gene3D:3bvxA02,Pfam_domain:PF09261,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,SMART_domains:SM00872,Superfamily_domains:SSF88688		S		A		1281/5143				Q05BN7_HUMAN,B3KQN1_HUMAN			YES	MAN2B2,synonymous_variant,p.=,ENST00000505907,;MAN2B2,synonymous_variant,p.=,ENST00000285599,NM_015274.1;MAN2B2,synonymous_variant,p.=,ENST00000504248,;							LOW	1245/3030		MA2B2_HUMAN			Transcript			.	ENSP00000285599		CCDS33951.1			1	
PGM1	0	LGGM	GRCh37	1	64059226	64059226	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	12	2	.	.	ENST00000371084.3:c.67C>A	p.Arg23=	p.R23=	ENST00000371084	NM_002633.2	23	Cgg/Agg	0	1	1	UPI000000105F	0		ENST00000371084		ENSG00000079739	8905		14			HGNC	p.R23R		PGM1		SNV			1				ENST00000371084	protein_coding			Gene3D:3.40.120.10,Pfam_domain:PF02878,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF37,Superfamily_domains:SSF53738		R		A		280/2472								PGM1,synonymous_variant,p.=,ENST00000371084,NM_002633.2;PGM1,upstream_gene_variant,,ENST00000540265,NM_001172819.1;ITGB3BP,non_coding_transcript_exon_variant,,ENST00000478138,;PGM1,upstream_gene_variant,,ENST00000473117,;							LOW	67/1689		PGM1_HUMAN			Transcript			.	ENSP00000360125		CCDS625.1			1	
VN1R2	0	LGGM	GRCh37	19	53762074	53762074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	47	3	.	.	ENST00000341702.3:c.446C>A	p.Ala149Glu	p.A149E	ENST00000341702	NM_173856.2	149	gCa/gAa	0	1	1	UPI0000062046	0	NA	ENST00000341702		ENSG00000196131	19872		50	1.78		HGNC	p.A149E		VN1R2		SNV							ENST00000341702	protein_coding	getma.org/?cm=var&var=hg19,19,53762074,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		A/E		A	low	530/1311		getma.org/?cm=msa&ty=f&p=VN1R2_HUMAN&rb=115&re=374&var=A149E	tolerated(0.08)				YES	VN1R2,missense_variant,p.Ala149Glu,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,;							MODERATE	446/1188	A149E	VN1R2_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000351244		CCDS12862.1			1	
DNMBP	0	LGGM	GRCh37	10	101656032	101656032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	15	3	.	.	ENST00000324109.4:c.3043G>T	p.Ala1015Ser	p.A1015S	ENST00000324109	NM_015221.2	1015	Gct/Tct	0	1	1	UPI000013D6C9	0	getma.org/pdb.php?prot=DNMBP_HUMAN&from=997&to=1209&var=A1015S	ENST00000324109		ENSG00000107554	30373		18	-0.345		HGNC	p.A1039S		DNMBP		SNV							ENST00000342239	protein_coding	getma.org/?cm=var&var=hg19,10,101656032,C,A&fts=all		Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19,SMART_domains:SM00721,Superfamily_domains:SSF103657		A/S		A	neutral	3135/6400		getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=997&re=1209&var=A1015S	tolerated(0.38)	B4E0Q3_HUMAN			YES	DNMBP,missense_variant,p.Ala1039Ser,ENST00000342239,;DNMBP,missense_variant,p.Ala1015Ser,ENST00000324109,NM_015221.2;DNMBP,missense_variant,p.Ala261Ser,ENST00000543621,;DNMBP,intron_variant,,ENST00000540316,;DNMBP,downstream_gene_variant,,ENST00000422692,;							MODERATE	3043/4734	A1015S	DNMBP_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000315659		CCDS7485.1			1	
LRSAM1	0	LGGM	GRCh37	9	130241766	130241766	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	11	3	.	.	ENST00000323301.4:c.885C>A	p.Ile295=	p.I295=	ENST00000323301	NM_138361.5	295	atC/atA	0	1		UPI000013DB12	0		ENST00000300417		ENSG00000148356	25135		14			HGNC	p.I295I		LRSAM1		SNV			1				ENST00000300417	protein_coding			hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF420		I		A		1257/3146								LRSAM1,synonymous_variant,p.=,ENST00000323301,NM_138361.5;LRSAM1,synonymous_variant,p.=,ENST00000300417,NM_001005373.3;LRSAM1,synonymous_variant,p.=,ENST00000373324,NM_001190723.2;LRSAM1,synonymous_variant,p.=,ENST00000373322,NM_001005374.3;LRSAM1,non_coding_transcript_exon_variant,,ENST00000483302,;LRSAM1,non_coding_transcript_exon_variant,,ENST00000498513,;LRSAM1,upstream_gene_variant,,ENST00000472068,;							LOW	885/2172		LRSM1_HUMAN			Transcript			.	ENSP00000300417		CCDS6873.1			1	
SUPT7L	0	LGGM	GRCh37	2	27880430	27880430	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	17	3	.	.	ENST00000337768.5:c.526G>T	p.Glu176Ter	p.E176*	ENST00000337768	NM_014860.1	176	Gag/Tag	0	1	1	UPI000013607D	0	NA	ENST00000337768		ENSG00000119760	30632		20	0		HGNC	p.E176X		SUPT7L		SNV							ENST00000337768	protein_coding	getma.org/?cm=var&var=hg19,2,27880430,C,A&fts=all		Pfam_domain:PF07524,SMART_domains:SM00576		E/*		A	NA	1096/4488		NA					YES	SUPT7L,stop_gained,p.Glu176Ter,ENST00000337768,NM_014860.1,NM_001282729.1;SUPT7L,stop_gained,p.Glu174Ter,ENST00000406540,;SUPT7L,stop_gained,p.Glu174Ter,ENST00000464789,;SUPT7L,stop_gained,p.Glu174Ter,ENST00000405491,;SUPT7L,stop_gained,p.Glu41Ter,ENST00000404798,NM_001282732.1;							HIGH	526/1245	E176*	ST65G_HUMAN			Transcript			.	ENSP00000336750		CCDS42667.1			1	
JMJD4	0	LGGM	GRCh37	1	227922948	227922948	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	8	3	.	.	ENST00000366758.3:c.165C>G	p.Ala55=	p.A55=	ENST00000366758	NM_023007.2	55	gcC/gcG	0	1	1	UPI000013FE0C	0		ENST00000366758		ENSG00000081692	25724		11			HGNC	p.A55A	rs556796845	JMJD4		SNV							ENST00000366758	protein_coding		C:0.0008	hmmpanther:PTHR12480:SF6,hmmpanther:PTHR12480		A		C		165/2595					C:0	C:0	YES	JMJD4,synonymous_variant,p.=,ENST00000366758,NM_023007.2;JMJD4,synonymous_variant,p.=,ENST00000438896,NM_001161465.1;SNAP47,5_prime_UTR_variant,,ENST00000366759,NM_053052.3;SNAP47,5_prime_UTR_variant,,ENST00000315781,;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000426344,;SNAP47,upstream_gene_variant,,ENST00000418653,;SNAP47,intron_variant,,ENST00000475930,;SNAP47,intron_variant,,ENST00000491439,;JMJD4,upstream_gene_variant,,ENST00000485807,;SNAP47,downstream_gene_variant,,ENST00000480897,;SNAP47,downstream_gene_variant,,ENST00000480265,;JMJD4,upstream_gene_variant,,ENST00000480590,;SNAP47,upstream_gene_variant,,ENST00000470038,;JMJD4,upstream_gene_variant,,ENST00000465251,;		C:0.0002					LOW	165/1392		JMJD4_HUMAN		C:0	Transcript			.	ENSP00000355720		CCDS1561.1		C:0	1	
MAGEB6	0	LGGM	GRCh37	X	26212094	26212094	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	31	3	.	.	ENST00000379034.1:c.131C>A	p.Ser44Tyr	p.S44Y	ENST00000379034	NM_173523.2	44	tCt/tAt	0	1	1	UPI00001413F4	0	NA	ENST00000379034		ENSG00000176746	23796		34	1.15		HGNC	p.S44Y		MAGEB6		SNV							ENST00000379034	protein_coding	getma.org/?cm=var&var=hg19,X,26212094,C,A&fts=all		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67,Low_complexity_(Seg):seg		S/Y		A	low	280/1949		getma.org/?cm=msa&ty=f&p=MAGB6_HUMAN&rb=3&re=97&var=S44Y	deleterious(0.01)				YES	MAGEB6,missense_variant,p.Ser44Tyr,ENST00000379034,NM_173523.2;							MODERATE	131/1224	S44Y	MAGB6_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000368320		CCDS14217.1			1	
AQP12A	0	LGGM	GRCh37	2	241631376	241631376	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	37	4	.	.	ENST00000337801.4:c.46G>A	p.Ala16Thr	p.A16T	ENST00000337801	NM_198998.2	16	Gcc/Acc	0	1	1	UPI00000743B9	0	NA	ENST00000337801		ENSG00000184945	19941	9.97E-05	41	0.805		HGNC	p.A16T	rs566667626	AQP12A	0.000248	SNV				0.000205			ENST00000429564	protein_coding	getma.org/?cm=var&var=hg19,2,241631376,G,A&fts=all	A:0	PIRSF_domain:PIRSF017529,hmmpanther:PTHR21191,hmmpanther:PTHR21191:SF8,Cleavage_site_(Signalp):SignalP-TM		A/T		A	low	115/1084	4.54E-05	getma.org/?cm=msa&ty=f&p=AQ12A_HUMAN&rb=1&re=36&var=A16T	tolerated(0.19)		A:0.0014	A:0.003	YES	AQP12A,missense_variant,p.Ala16Thr,ENST00000429564,;AQP12A,missense_variant,p.Ala16Thr,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,;	0.00204	A:0.0008					MODERATE	46/888	A16T	AQ12A_HUMAN		A:0	Transcript		benign(0.048)	common_variant	ENSP00000337144	0.000223			A:0	1	
UBR4	0	LGGM	GRCh37	1	19414309	19414309	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	4	5	.	.	ENST00000375254.3:c.14544+1G>A		p.X4848_splice	ENST00000375254	NM_020765.2			0	1	1	UPI000021276F	0		ENST00000375254		ENSG00000127481	30313		9			HGNC	-		UBR4		SNV							ENST00000375226	protein_coding							T		-/15906				Q96HY5_HUMAN			YES	UBR4,splice_donor_variant,,ENST00000375267,;UBR4,splice_donor_variant,,ENST00000375254,NM_020765.2;UBR4,splice_donor_variant,,ENST00000375217,;UBR4,splice_donor_variant,,ENST00000375226,;UBR4,splice_donor_variant,,ENST00000375224,;UBR4,splice_donor_variant,,ENST00000543981,;UBR4,splice_donor_variant,,ENST00000429347,;AL137127.1,upstream_gene_variant,,ENST00000582644,;UBR4,downstream_gene_variant,,ENST00000492606,;							HIGH	14544/15552		UBR4_HUMAN			Transcript			.	ENSP00000364403		CCDS189.1			1	
FMN2	0	LGGM	GRCh37	1	240371359	240371359	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	11	5	.	.	ENST00000319653.9:c.3247G>A	p.Ala1083Thr	p.A1083T	ENST00000319653	NM_020066.4	1083	Gcg/Acg	0	1	1	UPI00015FA087	0	NA	ENST00000319653		ENSG00000155816	14074		16	0.65		HGNC	p.A1083T		FMN2		SNV			1				ENST00000319653	protein_coding	getma.org/?cm=var&var=hg19,1,240371359,G,A&fts=all		Pfam_domain:PF06346,Pfam_domain:PF06346,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,Low_complexity_(Seg):seg,SMART_domains:SM00498		A/T		A	neutral	3477/6434		getma.org/?cm=msa&ty=f&p=FMN2_HUMAN&rb=1053&re=1172&var=A1083T		Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,missense_variant,p.Ala1083Thr,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;							MODERATE	3247/5169	A1083T	FMN2_HUMAN			Transcript		unknown(0)	.	ENSP00000318884		CCDS31069.2			1	
LILRA6	0	LGGM	GRCh37	19	54742863	54742863	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	28	6	.	.	ENST00000396365.2:c.1412G>A	p.Ser471Asn	p.S471N	ENST00000396365	NM_024318.2	471	aGc/aAc	0	1	1	UPI000022A9CA	0	NA	ENST00000396365		ENSG00000244482	15495		34	3.27		HGNC	p.S471N		LILRA6		SNV							ENST00000396365	protein_coding	getma.org/?cm=var&var=hg19,19,54742863,C,T&fts=all		PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738		S/N		T	medium	1452/1890		getma.org/?cm=msa&ty=f&p=LIRA6_HUMAN&rb=402&re=481&var=S471N	tolerated(0.09)				YES	LILRA6,missense_variant,p.Ser471Asn,ENST00000396365,NM_024318.2;LILRA6,missense_variant,p.Ser454Asn,ENST00000245621,;LILRA6,intron_variant,,ENST00000440558,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,intron_variant,,ENST00000419410,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,intron_variant,,ENST00000391735,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000474697,;							MODERATE	1412/1446	S471N	LIRA6_HUMAN			Transcript		benign(0.093)	.	ENSP00000379651		CCDS42610.1			1	
CRLS1	0	LGGM	GRCh37	20	6015124	6015124	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	35	6	.	.	ENST00000378863.4:c.744C>T	p.Val248=	p.V248=	ENST00000378863	NM_019095.4	248	gtC/gtT	0	1	1	UPI000003B001	0		ENST00000378863		ENSG00000088766	16148		41			HGNC	p.V149V		CRLS1		SNV							ENST00000378868	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR14269		V		T		901/3958							YES	CRLS1,synonymous_variant,p.=,ENST00000378863,NM_019095.4;CRLS1,synonymous_variant,p.=,ENST00000378868,NM_001127458.1;CRLS1,3_prime_UTR_variant,,ENST00000452938,;CRLS1,non_coding_transcript_exon_variant,,ENST00000464921,;CRLS1,non_coding_transcript_exon_variant,,ENST00000478846,;CRLS1,non_coding_transcript_exon_variant,,ENST00000489345,;							LOW	744/906		CRLS1_HUMAN			Transcript			.	ENSP00000368140		CCDS13096.1			1	
TLN2	0	LGGM	GRCh37	15	63008595	63008595	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	20	6	.	.	ENST00000561311.1:c.2700C>T	p.Leu900=	p.L900=	ENST00000561311		900	ctC/ctT	0	1		UPI00001FE5FC	0		ENST00000306829		ENSG00000171914	15447		26			HGNC	p.L900L		TLN2		SNV							ENST00000306829	protein_coding			hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15		L		T		2700/11650								TLN2,synonymous_variant,p.=,ENST00000561311,;TLN2,synonymous_variant,p.=,ENST00000306829,NM_015059.2;							LOW	2700/7629		TLN2_HUMAN			Transcript			.	ENSP00000303476		CCDS32261.1			1	
C9orf152	0	LGGM	GRCh37	9	112963737	112963737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	13	7	.	.	ENST00000400613.4:c.211C>A	p.Pro71Thr	p.P71T	ENST00000400613	NM_001012993.2	71	Cct/Act	0	1	1	UPI00016278ED	0	NA	ENST00000400613		ENSG00000188959	31455		20	0.975		HGNC	p.P71T		C9orf152		SNV							ENST00000400613	protein_coding	getma.org/?cm=var&var=hg19,9,112963737,G,T&fts=all				P/T		T	low	821/2717		getma.org/?cm=msa&ty=f&p=CI152_HUMAN&rb=4&re=237&var=P71T	deleterious(0.04)	A8K2L3_HUMAN			YES	C9orf152,missense_variant,p.Pro71Thr,ENST00000400613,NM_001012993.2;C9orf152,intron_variant,,ENST00000473442,;							MODERATE	211/720	P71T	CI152_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000383456		CCDS35102.2			1	
INSR	0	LGGM	GRCh37	19	7142979	7142979	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	15	7	.	.	ENST00000302850.5:c.2390C>G	p.Pro797Arg	p.P797R	ENST00000302850	NM_000208.2	797	cCt/cGt	0	1	1	UPI000020324D	0	getma.org/pdb.php?prot=INSR_HUMAN&from=757&to=842&var=P797R	ENST00000302850		ENSG00000171105	6091		22	2.485		HGNC	p.P785R		INSR		SNV			1				ENST00000341500	protein_coding	getma.org/?cm=var&var=hg19,19,7142979,G,C&fts=all		PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF140,SMART_domains:SM00060		P/R		C	medium	2533/4721		getma.org/?cm=msa&ty=f&p=INSR_HUMAN&rb=757&re=842&var=P797R	tolerated(0.36)	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN			YES	INSR,missense_variant,p.Pro785Arg,ENST00000341500,NM_001079817.1;INSR,missense_variant,p.Pro797Arg,ENST00000302850,NM_000208.2;INSR,non_coding_transcript_exon_variant,,ENST00000597211,;							MODERATE	2390/4149	P797R	INSR_HUMAN			Transcript		benign(0.111)	.	ENSP00000303830		CCDS12176.1			1	
NLRP1	0	LGGM	GRCh37	17	5462237	5462237	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	16	7	.	.	ENST00000572272.1:c.1779G>A	p.Lys593=	p.K593=	ENST00000572272		593	aaG/aaA	0	1	1	UPI0000038309	0		ENST00000572272		ENSG00000091592	14374		23			HGNC	p.K593K		NLRP1		SNV			1				ENST00000269280	protein_coding			PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13		K		T		1779/4422				I3L2G5_HUMAN,I3L0S2_HUMAN			YES	NLRP1,synonymous_variant,p.=,ENST00000345221,NM_033004.3,NM_014922.4,NM_033007.3;NLRP1,synonymous_variant,p.=,ENST00000262467,NM_001033053.2;NLRP1,synonymous_variant,p.=,ENST00000269280,;NLRP1,synonymous_variant,p.=,ENST00000572272,;NLRP1,synonymous_variant,p.=,ENST00000354411,NM_033006.3;NLRP1,synonymous_variant,p.=,ENST00000577119,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,synonymous_variant,p.=,ENST00000571451,;NLRP1,synonymous_variant,p.=,ENST00000544378,;							LOW	1779/4422		NALP1_HUMAN			Transcript			.	ENSP00000460475		CCDS42246.1			1	
ABCC5	0	LGGM	GRCh37	3	183646615	183646615	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H050510	H050510N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	15	8	.	.	ENST00000334444.6:c.3855-2A>G		p.X1285_splice	ENST00000334444	NM_005688.2			0	1	1	UPI000004A33C	0		ENST00000334444		ENSG00000114770	56		23			HGNC	-		ABCC5		SNV							ENST00000334444	protein_coding							C		-/5921				C9JZL5_HUMAN			YES	ABCC5,splice_acceptor_variant,,ENST00000334444,NM_005688.2;ABCC5,splice_acceptor_variant,,ENST00000265586,;ABCC5,splice_acceptor_variant,,ENST00000437205,;ABCC5,splice_acceptor_variant,,ENST00000443497,;							HIGH	3855/4314		MRP5_HUMAN			Transcript			.	ENSP00000333926		CCDS43176.1			1	
PCNXL2	0	LGGM	GRCh37	1	233313615	233313615	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050510	H050510N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	51	8	.	.	ENST00000258229.9:c.3206A>C	p.Lys1069Thr	p.K1069T	ENST00000258229	NM_014801.3	1069	aAa/aCa	0	1	1	UPI0000F58F23	0	NA	ENST00000258229		ENSG00000135749	8736		59	1.895		HGNC	p.K1069T		PCNXL2		SNV							ENST00000258229	protein_coding	getma.org/?cm=var&var=hg19,1,233313615,T,G&fts=all		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5		K/T		G	low	3441/7518		getma.org/?cm=msa&ty=f&p=PCX2_HUMAN&rb=1040&re=1239&var=K1069T	tolerated(0.2)	B3KNZ5_HUMAN			YES	PCNXL2,missense_variant,p.Lys1069Thr,ENST00000258229,NM_014801.3;PCNXL2,missense_variant,p.Lys202Thr,ENST00000488780,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000467336,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000496510,;PCNXL2,missense_variant,p.Lys91Thr,ENST00000462233,;PCNXL2,3_prime_UTR_variant,,ENST00000475463,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000498302,;PCNXL2,upstream_gene_variant,,ENST00000486012,;							MODERATE	3206/6414	K1069T	PCX2_HUMAN			Transcript		benign(0.019)	.	ENSP00000258229		CCDS44335.1			1	
RBP3	0	LGGM	GRCh37	10	48389742	48389742	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	18	8	.	.	ENST00000224600.4:c.1136C>T	p.Ala379Val	p.A379V	ENST00000224600	NM_002900.2	379	gCg/gTg	0	1	1	UPI000012D87A	0	getma.org/pdb.php?prot=RET3_HUMAN&from=308&to=437&var=A379V	ENST00000224600		ENSG00000107618	9921		26	-2.335		HGNC	p.A379V	rs373466436	RBP3		SNV			1				ENST00000224600	protein_coding	getma.org/?cm=var&var=hg19,10,48389742,G,A&fts=all		hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.30.750.44,Superfamily_domains:SSF52096		A/V		A	neutral	1250/4276		getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=308&re=437&var=A379V	tolerated(1)				YES	RBP3,missense_variant,p.Ala379Val,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;							MODERATE	1136/3744	A379V	RET3_HUMAN			Transcript		benign(0.011)	.	ENSP00000224600		CCDS7218.1			1	
FRMD4B	0	LGGM	GRCh37	3	69267528	69267528	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050510	H050510N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	16	10	.	.	ENST00000398540.3:c.734A>G	p.Tyr245Cys	p.Y245C	ENST00000398540	NM_015123.1	245	tAt/tGt	0	1	1	UPI00001C1DF1	0	getma.org/pdb.php?prot=FRM4B_HUMAN&from=144&to=260&var=Y245C	ENST00000398540		ENSG00000114541	24886		26	2.95		HGNC	p.Y136C		FRMD4B		SNV							ENST00000493880	protein_coding	getma.org/?cm=var&var=hg19,3,69267528,T,C&fts=all		Gene3D:1.20.80.10,Pfam_domain:PF00373,Prints_domain:PR00935,PROSITE_patterns:PS00661,PROSITE_profiles:PS50057,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF16,SMART_domains:SM00295,Superfamily_domains:SSF47031		Y/C		C	medium	818/5060		getma.org/?cm=msa&ty=f&p=FRM4B_HUMAN&rb=144&re=260&var=Y245C	deleterious(0)	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN			YES	FRMD4B,missense_variant,p.Tyr191Cys,ENST00000542259,;FRMD4B,missense_variant,p.Tyr245Cys,ENST00000398540,NM_015123.1;FRMD4B,missense_variant,p.Tyr136Cys,ENST00000493880,;FRMD4B,splice_region_variant,,ENST00000470070,;FRMD4B,splice_region_variant,,ENST00000483668,;FRMD4B,splice_region_variant,,ENST00000487751,;							MODERATE	734/3105	Y245C	FRM4B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381549		CCDS46863.1			1	
CNTRL	0	LGGM	GRCh37	9	123858811	123858811	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	39	10	.	.	ENST00000373855.1:c.591C>A	p.Val197=	p.V197=	ENST00000373855		197	gtC/gtA	0	1		UPI0000211718	0		ENST00000238341		ENSG00000119397	1858		49			HGNC	p.V197V		CNTRL		SNV							ENST00000373855	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF14580,PROSITE_profiles:PS51450,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058		V		A		622/7431				Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN				CNTRL,synonymous_variant,p.=,ENST00000373855,;CNTRL,synonymous_variant,p.=,ENST00000238341,NM_007018.4;CNTRL,synonymous_variant,p.=,ENST00000373865,;							LOW	591/6978		CNTRL_HUMAN			Transcript			.	ENSP00000238341		CCDS35118.1			1	
KIF3A	0	LGGM	GRCh37	5	132062100	132062100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	37	10	.	.	ENST00000378746.4:c.371C>T	p.Pro124Leu	p.P124L	ENST00000378746	NM_007054.5	124	cCc/cTc	0	1	1	UPI000035B258	0	getma.org/pdb.php?prot=KIF3A_HUMAN&from=20&to=345&var=P124L	ENST00000378746		ENSG00000131437	6319		47	3.105		HGNC	p.P124L		KIF3A		SNV							ENST00000378746	protein_coding	getma.org/?cm=var&var=hg19,5,132062100,G,A&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF53,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540		P/L		A	medium	590/6325		getma.org/?cm=msa&ty=f&p=KIF3A_HUMAN&rb=20&re=345&var=P124L	deleterious(0)				YES	KIF3A,missense_variant,p.Pro124Leu,ENST00000378746,NM_007054.5;KIF3A,missense_variant,p.Pro124Leu,ENST00000378735,;KIF3A,missense_variant,p.Pro124Leu,ENST00000403231,;KIF3A,missense_variant,p.Pro123Leu,ENST00000428744,;AC004237.1,downstream_gene_variant,,ENST00000431165,;							MODERATE	371/2100	P124L	KIF3A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368020		CCDS34235.1			1	
ZNF318	0	LGGM	GRCh37	6	43307676	43307676	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050510	H050510N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	20	10	.	.	ENST00000361428.2:c.4060A>G	p.Ile1354Val	p.I1354V	ENST00000361428	NM_014345.2	1354	Att/Gtt	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578		30	0.625		HGNC	p.I1354V	rs754513685	ZNF318	6.06E-05	SNV							ENST00000361428	protein_coding	getma.org/?cm=var&var=hg19,6,43307676,T,C&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		I/V		C	neutral	4138/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1190&re=1389&var=I1354V					YES	ZNF318,missense_variant,p.Ile1354Val,ENST00000361428,NM_014345.2;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000605935,;							MODERATE	4060/6840	I1354V	ZN318_HUMAN	0.000303		Transcript		possibly_damaging(0.482)	.	ENSP00000354964	2.47E-05	CCDS4895.2			1	
CHRNB1	0	LGGM	GRCh37	17	7359145	7359145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	13	11	.	.	ENST00000306071.2:c.1250G>T	p.Arg417Leu	p.R417L	ENST00000306071	NM_000747.2	417	cGg/cTg	0	1	1	UPI0000125257	0	NA	ENST00000306071		ENSG00000170175	1961		24	1.225		HGNC	p.R345L		CHRNB1		SNV			1				ENST00000536404	protein_coding	getma.org/?cm=var&var=hg19,17,7359145,G,T&fts=all		Superfamily_domains:SSF90112,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF477		R/L		T	low	1317/2557		getma.org/?cm=msa&ty=f&p=ACHB_HUMAN&rb=252&re=487&var=R417L	deleterious(0.04)	I3L535_HUMAN,B7Z5H1_HUMAN,B7Z2M6_HUMAN			YES	CHRNB1,missense_variant,p.Arg417Leu,ENST00000306071,NM_000747.2;CHRNB1,missense_variant,p.Arg296Leu,ENST00000576360,;CHRNB1,missense_variant,p.Arg345Leu,ENST00000536404,;CHRNB1,missense_variant,p.Arg305Leu,ENST00000570557,;CHRNB1,5_prime_UTR_variant,,ENST00000575379,;ZBTB4,downstream_gene_variant,,ENST00000311403,NM_020899.3;ZBTB4,downstream_gene_variant,,ENST00000380599,NM_001128833.1;CHRNB1,downstream_gene_variant,,ENST00000573209,;							MODERATE	1250/1506	R417L	ACHB_HUMAN			Transcript		benign(0.092)	.	ENSP00000304290		CCDS11106.1			1	
USP2	0	LGGM	GRCh37	11	119243548	119243548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	24	11	.	.	ENST00000260187.2:c.643G>T	p.Ala215Ser	p.A215S	ENST00000260187	NM_004205.4	215	Gcc/Tcc	0	1	1	UPI00001379D8	0	NA	ENST00000260187		ENSG00000036672	12618		35	0.345		HGNC	p.A215S		USP2		SNV							ENST00000260187	protein_coding	getma.org/?cm=var&var=hg19,11,119243548,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396		A/S		A	neutral	938/3732		getma.org/?cm=msa&ty=f&p=UBP2_HUMAN&rb=1&re=245&var=A215S	tolerated_low_confidence(0.5)	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN			YES	USP2,missense_variant,p.Ala215Ser,ENST00000260187,NM_004205.4;USP2,intron_variant,,ENST00000455332,NM_001243759.1;USP2,downstream_gene_variant,,ENST00000531070,;USP2,downstream_gene_variant,,ENST00000527843,;RP11-334E6.3,non_coding_transcript_exon_variant,,ENST00000530918,;							MODERATE	643/1818	A215S	UBP2_HUMAN			Transcript		benign(0.003)	.	ENSP00000260187		CCDS8422.1			1	
TGS1	0	LGGM	GRCh37	8	56711671	56711671	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	82	11	.	.	ENST00000260129.5:c.1741G>C	p.Glu581Gln	p.E581Q	ENST00000260129	NM_024831.6	581	Gaa/Caa	0	1	1	UPI0000DBEF24	0	NA	ENST00000260129		ENSG00000137574	17843		93	2.14		HGNC	p.E581Q		TGS1		SNV							ENST00000260129	protein_coding	getma.org/?cm=var&var=hg19,8,56711671,G,C&fts=all		hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32		E/Q		C	medium	2218/3782		getma.org/?cm=msa&ty=f&p=TGS1_HUMAN&rb=1&re=629&var=E581Q	tolerated(0.17)				YES	TGS1,missense_variant,p.Glu581Gln,ENST00000260129,NM_024831.6;TGS1,3_prime_UTR_variant,,ENST00000523948,;TGS1,downstream_gene_variant,,ENST00000519494,;							MODERATE	1741/2562	E581Q	TGS1_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000260129		CCDS34894.1			1	
POLQ	0	LGGM	GRCh37	3	121248612	121248612	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050510	H050510N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	24	11	.	.	ENST00000264233.5:c.988T>C	p.Cys330Arg	p.C330R	ENST00000264233	NM_199420.3	330	Tgt/Cgt	0	1	1	UPI0000D61B5F	0	getma.org/pdb.php?prot=DPOLQ_HUMAN&from=321&to=554&var=C330R	ENST00000264233		ENSG00000051341	9186		35	3.57		HGNC	p.C330R	rs768144840	POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121248612,A,G&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		C/R		G	high	1117/8775		getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=321&re=554&var=C330R	deleterious(0)				YES	POLQ,missense_variant,p.Cys330Arg,ENST00000264233,NM_199420.3;POLQ,non_coding_transcript_exon_variant,,ENST00000488282,;							MODERATE	988/7773	C330R	DPOLQ_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000264233		CCDS33833.1			1	
FMNL2	0	LGGM	GRCh37	2	153417537	153417537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050510	H050510N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	33	12	.	.	ENST00000288670.9:c.584A>T	p.His195Leu	p.H195L	ENST00000288670	NM_052905.3	195	cAt/cTt	0	1	1	UPI0000441EF9	0	NA	ENST00000288670		ENSG00000157827	18267		45	1.895		HGNC	p.H195L		FMNL2		SNV							ENST00000288670	protein_coding	getma.org/?cm=var&var=hg19,2,153417537,A,T&fts=all		PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213		H/L		T	low	951/5575		getma.org/?cm=msa&ty=f&p=FMNL2_HUMAN&rb=23&re=469&var=H195L		B3KT32_HUMAN			YES	FMNL2,missense_variant,p.His195Leu,ENST00000288670,NM_052905.3;							MODERATE	584/3279	H195L	FMNL2_HUMAN			Transcript		benign(0.113)	.	ENSP00000288670		CCDS46429.1			1	
SRF	0	LGGM	GRCh37	6	43143649	43143649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	21	12	.	.	ENST00000265354.4:c.986G>T	p.Gly329Val	p.G329V	ENST00000265354	NM_003131.2	329	gGc/gTc	0	1	1	UPI0000135F3B	0	NA	ENST00000265354		ENSG00000112658	11291		33	0.55		HGNC	p.G329V		SRF		SNV							ENST00000265354	protein_coding	getma.org/?cm=var&var=hg19,6,43143649,G,T&fts=all		hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF32		G/V		T	neutral	1344/4200		getma.org/?cm=msa&ty=f&p=SRF_HUMAN&rb=200&re=347&var=G329V	deleterious_low_confidence(0.02)	F5H6V4_HUMAN			YES	SRF,missense_variant,p.Gly329Val,ENST00000265354,NM_003131.2;SRF,missense_variant,p.Gly125Val,ENST00000457278,;							MODERATE	986/1527	G329V	SRF_HUMAN			Transcript		benign(0.336)	.	ENSP00000265354		CCDS4889.1			1	
HSD17B6	0	LGGM	GRCh37	12	57167741	57167741	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	41	13	.	.	ENST00000554643.1:c.105G>T	p.Thr35=	p.T35=	ENST00000554643		35	acG/acT	0	1		UPI000004C789	0		ENST00000322165		ENSG00000025423	23316		54			HGNC	p.T35T		HSD17B6		SNV							ENST00000322165	protein_coding			hmmpanther:PTHR24316:SF280,hmmpanther:PTHR24316,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081		T		T		215/1512				G3V508_HUMAN,G3V3Y9_HUMAN				HSD17B6,synonymous_variant,p.=,ENST00000554643,;HSD17B6,synonymous_variant,p.=,ENST00000555805,;HSD17B6,synonymous_variant,p.=,ENST00000554150,;HSD17B6,synonymous_variant,p.=,ENST00000555159,;HSD17B6,synonymous_variant,p.=,ENST00000322165,NM_003725.2;HSD17B6,synonymous_variant,p.=,ENST00000554155,;HSD17B6,synonymous_variant,p.=,ENST00000556650,;HSD17B6,downstream_gene_variant,,ENST00000556481,;							LOW	105/954		H17B6_HUMAN			Transcript			.	ENSP00000318631		CCDS8925.1			1	
MLH3	0	LGGM	GRCh37	14	75485619	75485619	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	36	13	.	.	ENST00000355774.2:c.4155C>T	p.Ser1385=	p.S1385=	ENST00000355774	NM_001040108.1	1385	tcC/tcT	0	1	1	UPI00001AEEE0	0		ENST00000355774		ENSG00000119684	7128		49			HGNC	p.S1385S	rs766537456	MLH3		SNV			1				ENST00000355774	protein_coding			Superfamily_domains:0050888,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7		S		A		4371/7896	3.00E-05			H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN			YES	MLH3,synonymous_variant,p.=,ENST00000355774,NM_001040108.1;MLH3,synonymous_variant,p.=,ENST00000380968,;MLH3,synonymous_variant,p.=,ENST00000238662,NM_014381.2;MLH3,synonymous_variant,p.=,ENST00000556740,;MLH3,synonymous_variant,p.=,ENST00000556257,;MLH3,synonymous_variant,p.=,ENST00000553713,;MLH3,downstream_gene_variant,,ENST00000544985,;RNU6-689P,upstream_gene_variant,,ENST00000384197,;MLH3,synonymous_variant,p.=,ENST00000554697,;MLH3,non_coding_transcript_exon_variant,,ENST00000555415,;MLH3,downstream_gene_variant,,ENST00000555144,;MLH3,downstream_gene_variant,,ENST00000556453,;							LOW	4155/4362		MLH3_HUMAN			Transcript			.	ENSP00000348020	1.65E-05	CCDS32123.1			1	
CCDC38	0	LGGM	GRCh37	12	96288897	96288897	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	56	13	.	.	ENST00000344280.3:c.642C>A	p.Leu214=	p.L214=	ENST00000344280	NM_182496.2	214	ctC/ctA	0	1	1	UPI00001AEC9B	0		ENST00000344280		ENSG00000165972	26843		69			HGNC	p.L214L		CCDC38		SNV							ENST00000344280	protein_coding			Pfam_domain:PF13863,hmmpanther:PTHR21683:SF7,hmmpanther:PTHR21683		L		T		1200/2277				F8VY05_HUMAN			YES	CCDC38,synonymous_variant,p.=,ENST00000344280,NM_182496.2;SNRPF,intron_variant,,ENST00000552085,;CCDC38,downstream_gene_variant,,ENST00000548771,;							LOW	642/1692		CCD38_HUMAN			Transcript			.	ENSP00000345470		CCDS9056.1			1	
MICAL3	0	LGGM	GRCh37	22	18364008	18364008	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	23	13	.	.	ENST00000441493.2:c.2241+4636C>T		*747*	ENST00000441493	NM_015241.2			0	1	1	UPI0001823FDE	0		ENST00000441493		ENSG00000243156	24694		36			HGNC	p.P768L		MICAL3		SNV							ENST00000585038	protein_coding							A		-/9445				C9J922_HUMAN,A8K0E1_HUMAN			YES	MICAL3,missense_variant,p.Pro768Leu,ENST00000429452,NM_001136004.1;MICAL3,missense_variant,p.Pro768Leu,ENST00000585038,;MICAL3,intron_variant,,ENST00000441493,NM_015241.2;MICAL3,intron_variant,,ENST00000461307,;MICAL3,intron_variant,,ENST00000414725,;MICAL3,intron_variant,,ENST00000444520,NM_001122731.1;MICAL3,intron_variant,,ENST00000207726,;MICAL3,intron_variant,,ENST00000400561,;MICAL3,intron_variant,,ENST00000383094,;MICAL3,upstream_gene_variant,,ENST00000462645,;MICAL3,upstream_gene_variant,,ENST00000465886,;MICAL3,upstream_gene_variant,,ENST00000498345,;MICAL3,intron_variant,,ENST00000495076,;							MODIFIER	-/6009		MICA3_HUMAN			Transcript			.	ENSP00000416015		CCDS46659.1			1	
SLC12A3	0	LGGM	GRCh37	16	56933456	56933456	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050510	H050510N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	48	13	.	.	ENST00000438926.2:c.2675T>C	p.Leu892Pro	p.L892P	ENST00000438926	NM_001126108.1	892	cTg/cCg	0	1		UPI00005782C2	0	NA	ENST00000563236		ENSG00000070915	10912		61	2.7		HGNC	p.L892P		SLC12A3		SNV			1				ENST00000438926	protein_coding	getma.org/?cm=var&var=hg19,16,56933456,T,C&fts=all		hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF9,TIGRFAM_domain:TIGR00930		L/P		C	medium	2673/4208		getma.org/?cm=msa&ty=f&p=S12A3_HUMAN&rb=848&re=1021&var=L883P	deleterious(0)					SLC12A3,missense_variant,p.Leu892Pro,ENST00000438926,NM_001126108.1,NM_000339.2,NM_001126107.1;SLC12A3,missense_variant,p.Leu882Pro,ENST00000262502,;SLC12A3,missense_variant,p.Leu883Pro,ENST00000563236,;SLC12A3,missense_variant,p.Leu891Pro,ENST00000566786,;SLC12A3,upstream_gene_variant,,ENST00000569002,;							MODERATE	2648/3066	L883P	S12A3_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000456149		CCDS58464.1			1	
OR52N1	0	LGGM	GRCh37	11	5809288	5809288	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	49	14	.	.	ENST00000317078.1:c.759C>T	p.Thr253=	p.T253=	ENST00000317078	NM_001001913.1	253	acC/acT	0	1	1	UPI0000041BDD	0		ENST00000317078		ENSG00000181001	14853		63			HGNC	p.T253T		OR52N1		SNV							ENST00000317078	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF107,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T		A		759/963							YES	OR52N1,synonymous_variant,p.=,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							LOW	759/963		O52N1_HUMAN			Transcript			.	ENSP00000322823		CCDS31398.1			1	
SEC23A	0	LGGM	GRCh37	14	39531028	39531028	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	46	14	.	.	ENST00000307712.6:c.1446G>T	p.Val482=	p.V482=	ENST00000307712	NM_006364.2	482	gtG/gtT	0	1	1	UPI000013EC46	0		ENST00000307712		ENSG00000100934	10701		60			HGNC	p.V370V		SEC23A		SNV			1				ENST00000554645	protein_coding			hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF5,Pfam_domain:PF08033,Gene3D:2nutA01,Superfamily_domains:SSF81995		V		A		1964/4135				G3V5K1_HUMAN,G3V3G5_HUMAN,G3V2R6_HUMAN,B3KXI2_HUMAN			YES	SEC23A,synonymous_variant,p.=,ENST00000537403,;SEC23A,synonymous_variant,p.=,ENST00000307712,NM_006364.2;SEC23A,synonymous_variant,p.=,ENST00000545328,;SEC23A,synonymous_variant,p.=,ENST00000536508,;SEC23A,downstream_gene_variant,,ENST00000553925,;							LOW	1446/2298		SC23A_HUMAN			Transcript			.	ENSP00000306881		CCDS9668.1			1	
EEF1A1	0	LGGM	GRCh37	6	74229182	74229182	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	33	15	.	.	ENST00000316292.9:c.202G>A	p.Glu68Lys	p.E68K	ENST00000316292	NM_001402.5	68	Gaa/Aaa	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=5&to=238&var=E68K	ENST00000309268		ENSG00000156508	3189		48	1.895		HGNC	p.E68K		EEF1A1		SNV							ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74229182,C,T&fts=all		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,Prints_domain:PR00315		E/K		T	low	821/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=5&re=238&var=E68K	deleterious_low_confidence(0.02)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,missense_variant,p.Glu68Lys,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Glu68Lys,ENST00000309268,;EEF1A1,missense_variant,p.Glu68Lys,ENST00000331523,;EEF1A1,missense_variant,p.Glu68Lys,ENST00000455918,;EEF1A1,missense_variant,p.Glu68Lys,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,;							MODERATE	202/1389	E68K	EF1A1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339053		CCDS4980.1			1	
RBMS3	0	LGGM	GRCh37	3	29476345	29476345	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	47	15	.	.	ENST00000383767.2:c.187C>T	p.Leu63=	p.L63=	ENST00000383767		63	Ctg/Ttg	0	1	1	UPI000023FE75	0		ENST00000383767		ENSG00000144642	13427		62			HGNC	p.L63L		RBMS3		SNV							ENST00000383767	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF00076,Prints_domain:PR00961,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF219,SMART_domains:SM00360,Superfamily_domains:SSF54928		L		T		523/1864				C9J9B2_HUMAN			YES	RBMS3,synonymous_variant,p.=,ENST00000434693,NM_001003793.2;RBMS3,synonymous_variant,p.=,ENST00000396583,NM_001177711.1;RBMS3,synonymous_variant,p.=,ENST00000383766,NM_001003792.2;RBMS3,synonymous_variant,p.=,ENST00000383767,;RBMS3,synonymous_variant,p.=,ENST00000273139,NM_014483.3;RBMS3,synonymous_variant,p.=,ENST00000452462,;RBMS3,synonymous_variant,p.=,ENST00000456853,NM_001177712.1;RBMS3,synonymous_variant,p.=,ENST00000445033,;RBMS3,non_coding_transcript_exon_variant,,ENST00000471426,;RBMS3,upstream_gene_variant,,ENST00000497205,;							LOW	187/1314		RBMS3_HUMAN			Transcript			.	ENSP00000373277		CCDS33724.1			1	
SIGLEC10	0	LGGM	GRCh37	19	51914389	51914389	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	51	17	.	.	ENST00000356298.5:c.2058C>T	p.Gly686=	p.G686=	ENST00000356298	NM_033130.4	686	ggC/ggT	0	1		UPI0000047E1A	0		ENST00000339313		ENSG00000142512	15620		68			HGNC	p.G508G		SIGLEC10		SNV							ENST00000432469	protein_coding			hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035		G		A		2175/2256								SIGLEC10,synonymous_variant,p.=,ENST00000353836,NM_001171157.1,NM_001171159.1,NM_001171158.1;SIGLEC10,synonymous_variant,p.=,ENST00000356298,NM_033130.4;SIGLEC10,synonymous_variant,p.=,ENST00000432469,;SIGLEC10,synonymous_variant,p.=,ENST00000441969,;SIGLEC10,synonymous_variant,p.=,ENST00000442846,NM_001171161.1;SIGLEC10,synonymous_variant,p.=,ENST00000339313,;SIGLEC10,synonymous_variant,p.=,ENST00000439889,NM_001171156.1;SIGLEC10,synonymous_variant,p.=,ENST00000525998,;SIGLEC10,synonymous_variant,p.=,ENST00000436984,;SIGLEC10,downstream_gene_variant,,ENST00000529627,;CTD-2616J11.2,upstream_gene_variant,,ENST00000532688,;CTD-2616J11.2,upstream_gene_variant,,ENST00000526996,;CTD-2616J11.3,upstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;							LOW	2058/2094		SIG10_HUMAN			Transcript			.	ENSP00000345243		CCDS12832.1			1	
TP53	0	LGGM	GRCh37	17	7579575	7579575	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	27	18	.	.	ENST00000269305.4:c.112C>T	p.Gln38Ter	p.Q38*	ENST00000269305	NM_001126112.2	38	Caa/Taa	0	1	1	UPI000002ED67	0	NA	ENST00000269305		ENSG00000141510	11998		45	0		HGNC	p.Q38X	TP53_g.11343C>T,COSM46286,COSM236890,COSM236889	TP53		SNV			1			0,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7579575,G,A&fts=all		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6		Q/*		A	NA	302/2579		NA		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			YES	TP53,stop_gained,p.Gln38Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Gln38Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Gln38Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Gln38Ter,ENST00000445888,;TP53,stop_gained,p.Gln38Ter,ENST00000359597,;TP53,stop_gained,p.Gln38Ter,ENST00000413465,;TP53,stop_gained,p.Gln38Ter,ENST00000508793,;TP53,stop_gained,p.Gln38Ter,ENST00000604348,;TP53,stop_gained,p.Gln38Ter,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;					0,1,1,1		HIGH	112/1182	Q38*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
OR7A10	0	LGGM	GRCh37	19	14951919	14951919	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	81	19	.	.	ENST00000248058.1:c.771G>C	p.Gly257=	p.G257=	ENST00000248058	NM_001005190.1	257	ggG/ggC	0	1	1	UPI0000130B4B	0		ENST00000248058		ENSG00000127515	8356		100			HGNC	p.G257G		OR7A10		SNV							ENST00000248058	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF263,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		G		G		771/930							YES	OR7A10,synonymous_variant,p.=,ENST00000248058,NM_001005190.1;							LOW	771/930		OR7AA_HUMAN			Transcript			.	ENSP00000248058		CCDS32936.1			1	
COX10	0	LGGM	GRCh37	17	13977741	13977741	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050510	H050510N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	38	20	.	.	ENST00000261643.3:c.145A>G	p.Thr49Ala	p.T49A	ENST00000261643	NM_001303.3	49	Aca/Gca	0	1	1	UPI000013D1C8	0	NA	ENST00000261643		ENSG00000006695	2260		58	2.175		HGNC	p.T49A		COX10		SNV			1				ENST00000261643	protein_coding	getma.org/?cm=var&var=hg19,17,13977741,A,G&fts=all		PIRSF_domain:PIRSF001773,hmmpanther:PTHR11048,hmmpanther:PTHR11048:SF3		T/A		G	medium	222/2873		getma.org/?cm=msa&ty=f&p=COX10_HUMAN&rb=1&re=165&var=T49A	tolerated_low_confidence(0.05)	B4DFR1_HUMAN			YES	COX10,missense_variant,p.Thr49Ala,ENST00000261643,NM_001303.3;COX10,missense_variant,p.Thr49Ala,ENST00000429152,;COX10,5_prime_UTR_variant,,ENST00000536205,;COX10,5_prime_UTR_variant,,ENST00000537334,;COX10-AS1,upstream_gene_variant,,ENST00000449363,;COX10-AS1,upstream_gene_variant,,ENST00000602539,;COX10-AS1,upstream_gene_variant,,ENST00000602743,;COX10,missense_variant,p.Thr49Ala,ENST00000581931,;COX10,missense_variant,p.Thr49Ala,ENST00000580561,;							MODERATE	145/1332	T49A	COX10_HUMAN			Transcript		benign(0.41)	.	ENSP00000261643		CCDS11166.1			1	
DNAH5	0	LGGM	GRCh37	5	13737491	13737491	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	60	21	.	.	ENST00000265104.4:c.11325G>A	p.Leu3775=	p.L3775=	ENST00000265104	NM_001369.2	3775	ctG/ctA	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		81			HGNC	p.L3775L		DNAH5		SNV			1				ENST00000265104	protein_coding			Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		L		T		11430/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;							LOW	11325/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
TOP3A	0	LGGM	GRCh37	17	18186062	18186062	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	66	24	.	.	ENST00000321105.5:c.1971G>A	p.Lys657=	p.K657=	ENST00000321105	NM_004618.3	657	aaG/aaA	0	1	1	UPI00001371A0	0		ENST00000321105		ENSG00000177302	11992		90			HGNC	p.K632K		TOP3A		SNV							ENST00000580095	protein_coding			hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Pfam_domain:PF01396,Gene3D:1yuaA01,Superfamily_domains:SSF57783		K		T		2186/4056				B4DSJ0_HUMAN,A8K398_HUMAN			YES	TOP3A,synonymous_variant,p.=,ENST00000321105,NM_004618.3;TOP3A,synonymous_variant,p.=,ENST00000542570,;TOP3A,synonymous_variant,p.=,ENST00000580095,;TOP3A,synonymous_variant,p.=,ENST00000540524,;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,,ENST00000477508,;TOP3A,downstream_gene_variant,,ENST00000581536,;TOP3A,downstream_gene_variant,,ENST00000582122,;							LOW	1971/3006		TOP3A_HUMAN			Transcript			.	ENSP00000321636		CCDS11194.1			1	
EFCAB9	0	LGGM	GRCh37	5	171621200	171621200	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050510	H050510N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	106	25	.	.	ENST00000398186.4:c.24T>C	p.Phe8=	p.F8=	ENST00000398186	NM_001171183.1	8	ttT/ttC	0	1	1	UPI00001D7EEF	0		ENST00000398186		ENSG00000214360	34530		131			HGNC	p.F8F		EFCAB9		SNV							ENST00000398186	protein_coding			hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF134		F		C		25/702							YES	EFCAB9,synonymous_variant,p.=,ENST00000398186,NM_001171183.1;							LOW	24/594		EFCB9_HUMAN			Transcript			.	ENSP00000381247		CCDS54946.1			1	
ZNF729	0	LGGM	GRCh37	19	22497314	22497314	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050510	H050510N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	95	26	.	.	ENST00000601693.1:c.1095A>G	p.Lys365=	p.K365=	ENST00000601693		365	aaA/aaG	0	1	1	UPI000042600C	0		ENST00000601693		ENSG00000196350	32464		121			HGNC	p.K365K		ZNF729		SNV							ENST00000357491	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		K		G		1213/3877				M0QY45_HUMAN			YES	ZNF729,synonymous_variant,p.=,ENST00000601693,;ZNF729,synonymous_variant,p.=,ENST00000357491,NM_001242680.1;							LOW	1095/3759					Transcript			.	ENSP00000469582		CCDS59368.1			1	
NFE2L2	0	LGGM	GRCh37	2	178098804	178098804	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	25	27	.	.	ENST00000397062.3:c.241G>A	p.Gly81Ser	p.G81S	ENST00000397062	NM_006164.4	81	Ggt/Agt	0	1	1	UPI000012FFD0	0	NA	ENST00000397062		ENSG00000116044	7782		52	2.865		HGNC	p.G80S	COSM717624	NFE2L2		SNV						1	ENST00000586532	protein_coding	getma.org/?cm=var&var=hg19,2,178098804,C,T&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3		G/S		T	medium	796/2853		getma.org/?cm=msa&ty=f&p=NF2L2_HUMAN&rb=1&re=200&var=G81S	deleterious(0)	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN			YES	NFE2L2,missense_variant,p.Gly81Ser,ENST00000397062,NM_006164.4;NFE2L2,missense_variant,p.Gly65Ser,ENST00000464747,;NFE2L2,missense_variant,p.Gly65Ser,ENST00000397063,NM_001145412.2,NM_001145413.2;NFE2L2,missense_variant,p.Gly65Ser,ENST00000446151,;NFE2L2,missense_variant,p.Gly65Ser,ENST00000423513,;NFE2L2,missense_variant,p.Gly65Ser,ENST00000421929,;NFE2L2,missense_variant,p.Gly65Ser,ENST00000448782,;NFE2L2,missense_variant,p.Ala65Thr,ENST00000449627,;NFE2L2,missense_variant,p.Gly80Ser,ENST00000586532,;NFE2L2,missense_variant,p.Gly65Ser,ENST00000588123,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;					1		MODERATE	241/1818	G81S	NF2L2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380252		CCDS42782.1			1	
TOX3	0	LGGM	GRCh37	16	52497932	52497932	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050510	H050510N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	58	29	.	.	ENST00000219746.9:c.322C>T	p.Pro108Ser	p.P108S	ENST00000219746	NM_001080430.2	108	Cct/Tct	0	1	1	UPI00001972E7	0	NA	ENST00000219746		ENSG00000103460	11972		87	1.485		HGNC	p.P108S		TOX3		SNV							ENST00000219746	protein_coding	getma.org/?cm=var&var=hg19,16,52497932,G,A&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF136		P/S		A	low	607/3233		getma.org/?cm=msa&ty=f&p=TOX3_HUMAN&rb=1&re=200&var=P108S	tolerated(0.41)	H3BTZ9_HUMAN			YES	TOX3,missense_variant,p.Pro108Ser,ENST00000219746,NM_001080430.2;TOX3,missense_variant,p.Pro103Ser,ENST00000407228,NM_001146188.1;TOX3,missense_variant,p.Pro72Ser,ENST00000563091,;TOX3,3_prime_UTR_variant,,ENST00000568436,;							MODERATE	322/1731	P108S	TOX3_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000219746		CCDS54009.1			1	
FAM47C	0	LGGM	GRCh37	X	37027219	37027219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	25	32	.	.	ENST00000358047.3:c.736C>A	p.Leu246Ile	p.L246I	ENST00000358047	NM_001013736.2	246	Ctc/Atc	0	1	1	UPI000041ABF8	0	NA	ENST00000358047		ENSG00000198173	25301		57	1.545		HGNC	p.L246I		FAM47C		SNV							ENST00000358047	protein_coding	getma.org/?cm=var&var=hg19,X,37027219,C,A&fts=all		Pfam_domain:PF14642,Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF203		L/I		A	low	788/3308		getma.org/?cm=msa&ty=f&p=FA47C_HUMAN&rb=180&re=379&var=L246I	deleterious(0.02)				YES	FAM47C,missense_variant,p.Leu246Ile,ENST00000358047,NM_001013736.2;							MODERATE	736/3108	L246I	FA47C_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000367913		CCDS35227.1			1	
IQCK	0	LGGM	GRCh37	16	19838413	19838413	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	96	35	.	.	ENST00000320394.6:c.756C>T	p.His252=	p.H252=	ENST00000320394	NM_153208.1	252	caC/caT	0	1	1	UPI0000072C5C	0		ENST00000320394		ENSG00000174628	28556		131			HGNC	p.T224I		IQCK		SNV							ENST00000541926	protein_coding					H		T		1455/2600				B4E1V3_HUMAN			YES	IQCK,missense_variant,p.Thr224Ile,ENST00000541926,;IQCK,missense_variant,p.His10Tyr,ENST00000568061,;IQCK,synonymous_variant,p.=,ENST00000320394,NM_153208.1;IQCK,synonymous_variant,p.=,ENST00000433597,;IQCK,synonymous_variant,p.=,ENST00000564186,;IQCK,non_coding_transcript_exon_variant,,ENST00000562762,;IQCK,3_prime_UTR_variant,,ENST00000308214,;IQCK,3_prime_UTR_variant,,ENST00000561839,;IQCK,3_prime_UTR_variant,,ENST00000564955,;IQCK,non_coding_transcript_exon_variant,,ENST00000568300,;IQCK,downstream_gene_variant,,ENST00000561935,;							LOW	756/864		IQCK_HUMAN			Transcript			.	ENSP00000324901		CCDS10580.1			1	
TRPA1	0	LGGM	GRCh37	8	72964895	72964895	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050510	H050510N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	74	35	.	.	ENST00000262209.4:c.1750T>A	p.Leu584Met	p.L584M	ENST00000262209	NM_007332.2	584	Ttg/Atg	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		109	2.28		HGNC	p.L436M		TRPA1		SNV			1				ENST00000523582	protein_coding	getma.org/?cm=var&var=hg19,8,72964895,A,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		L/M		T	medium	1958/5223		getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=576&re=677&var=L584M	tolerated(0.08)				YES	TRPA1,missense_variant,p.Leu584Met,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Leu436Met,ENST00000523582,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000537896,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000520788,;							MODERATE	1750/3360	L584M	TRPA1_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000262209		CCDS34908.1			1	
NXPH2	0	LGGM	GRCh37	2	139429109	139429109	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	79	56	.	.	ENST00000272641.3:c.178G>T	p.Val60Phe	p.V60F	ENST00000272641	NM_007226.2	60	Gtt/Ttt	0	1	1	UPI000023FCD4	0	NA	ENST00000272641		ENSG00000144227	8076		135	1.1		HGNC	p.V60F		NXPH2		SNV							ENST00000272641	protein_coding	getma.org/?cm=var&var=hg19,2,139429109,C,A&fts=all		PIRSF_domain:PIRSF038019,hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF11		V/F		A	low	285/1052		getma.org/?cm=msa&ty=f&p=NXPH2_HUMAN&rb=56&re=264&var=V60F	deleterious(0.02)				YES	NXPH2,missense_variant,p.Val60Phe,ENST00000272641,NM_007226.2;							MODERATE	178/795	V60F	NXPH2_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000272641		CCDS46421.1			1	
PRPF38B	0	LGGM	GRCh37	1	109242475	109242475	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050510	H050510N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050510N.bam, H050510T.bam	Illumina HiSeq	269	63	.	.	ENST00000370025.4:c.1474C>T	p.Pro492Ser	p.P492S	ENST00000370025	NM_018061.2	492	Ccc/Tcc	0	1	1	UPI000013CF13	0	NA	ENST00000370025		ENSG00000134186	25512		332	0		HGNC	p.P381S		PRPF38B		SNV							ENST00000370021	protein_coding	getma.org/?cm=var&var=hg19,1,109242475,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23142		P/S		T	neutral	1743/3693		getma.org/?cm=msa&ty=f&p=PR38B_HUMAN&rb=388&re=544&var=P492S	tolerated_low_confidence(0.13)				YES	PRPF38B,missense_variant,p.Pro381Ser,ENST00000370021,;PRPF38B,missense_variant,p.Pro492Ser,ENST00000370025,NM_018061.2;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,downstream_gene_variant,,ENST00000467302,;PRPF38B,downstream_gene_variant,,ENST00000485810,;							MODERATE	1474/1641	P492S	PR38B_HUMAN			Transcript		unknown(0)	.	ENSP00000359042		CCDS788.1			1	
GK5	0	LGGM	GRCh37	3	141934510	141934510	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	18	2	.	.	ENST00000392993.2:c.172G>A	p.Gly58Ser	p.G58S	ENST00000392993	NM_001039547.2	58	Ggc/Agc	0	1	1	UPI000069B0CB	0	getma.org/pdb.php?prot=GLPK5_HUMAN&from=20&to=282&var=G58S	ENST00000392993		ENSG00000175066	28635		20	2.815		HGNC	p.G58S		GK5		SNV							ENST00000466685	protein_coding	getma.org/?cm=var&var=hg19,3,141934510,C,T&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF54,Superfamily_domains:SSF53067		G/S		T	medium	324/3422		getma.org/?cm=msa&ty=f&p=GLPK5_HUMAN&rb=20&re=282&var=G58S	deleterious(0)				YES	GK5,missense_variant,p.Gly58Ser,ENST00000392993,NM_001039547.2;GK5,missense_variant,p.Gly58Ser,ENST00000544571,;GK5,non_coding_transcript_exon_variant,,ENST00000466685,;GK5,non_coding_transcript_exon_variant,,ENST00000472759,;GK5,missense_variant,p.Gly58Ser,ENST00000480757,;GK5,missense_variant,p.Gly58Ser,ENST00000492097,;GK5,missense_variant,p.Gly58Ser,ENST00000487672,;GK5,non_coding_transcript_exon_variant,,ENST00000460544,;GK5,non_coding_transcript_exon_variant,,ENST00000489085,;							MODERATE	172/1590	G58S	GLPK5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000418001		CCDS33871.1			1	
CHST12	0	LGGM	GRCh37	7	2472574	2472574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	16	2	.	.	ENST00000258711.6:c.300C>A	p.Ser100Arg	p.S100R	ENST00000258711	NM_001243794.1	100	agC/agA	0	1	1	UPI000004C65C	0	NA	ENST00000258711		ENSG00000136213	17423		18	0.41		HGNC	p.S100R		CHST12		SNV							ENST00000258711	protein_coding	getma.org/?cm=var&var=hg19,7,2472574,C,A&fts=all		hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF4		S/R		A	neutral	435/2103		getma.org/?cm=msa&ty=f&p=CHSTC_HUMAN&rb=1&re=154&var=S100R	tolerated(0.45)	C9J991_HUMAN			YES	CHST12,missense_variant,p.Ser100Arg,ENST00000258711,NM_001243794.1,NM_018641.4,NM_001243795.1;CHST12,missense_variant,p.Ser100Arg,ENST00000432336,;AC004840.9,upstream_gene_variant,,ENST00000313156,;							MODERATE	300/1245	S100R	CHSTC_HUMAN			Transcript		benign(0.003)	.	ENSP00000258711		CCDS5333.1			1	
C1RL	0	LGGM	GRCh37	12	7252504	7252504	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	11	2	.	.	ENST00000266542.4:c.609G>T	p.Ala203=	p.A203=	ENST00000266542	NM_016546.2	203	gcG/gcT	0	1	1	UPI0000EE67FA	0		ENST00000266542		ENSG00000139178	21265		13			HGNC	p.R18L		C1RL		SNV							ENST00000539803	protein_coding			Gene3D:2.10.70.10,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF26,Low_complexity_(Seg):seg,Superfamily_domains:SSF57535		A		A		702/3394							YES	C1RL,synonymous_variant,p.=,ENST00000266542,NM_016546.2;C1RL,synonymous_variant,p.=,ENST00000544702,;C1RL,synonymous_variant,p.=,ENST00000545280,;C1RL,intron_variant,,ENST00000543933,;C1RL,intron_variant,,ENST00000534950,;C1RL,downstream_gene_variant,,ENST00000545337,;C1RL,upstream_gene_variant,,ENST00000504702,;C1RL,synonymous_variant,p.=,ENST00000539803,;C1RL,3_prime_UTR_variant,,ENST00000537833,;C1RL,3_prime_UTR_variant,,ENST00000534969,;C1RL,downstream_gene_variant,,ENST00000543941,;							LOW	609/1464		C1RL_HUMAN			Transcript			.	ENSP00000266542		CCDS8573.1			1	
LLGL2	0	LGGM	GRCh37	17	73565186	73565186	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	18	2	.	.	ENST00000392550.3:c.1450G>T	p.Glu484Ter	p.E484*	ENST00000392550	NM_001031803.1	484	Gag/Tag	0	1	1	UPI00005905A8	0	NA	ENST00000392550		ENSG00000073350	6629		20	0		HGNC	p.E484X		LLGL2		SNV							ENST00000167462	protein_coding	getma.org/?cm=var&var=hg19,17,73565186,G,T&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20,Superfamily_domains:SSF50978		E/*		T	NA	1567/3509		NA		J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN			YES	LLGL2,stop_gained,p.Glu484Ter,ENST00000392550,NM_001031803.1;LLGL2,stop_gained,p.Glu484Ter,ENST00000167462,NM_004524.2;LLGL2,stop_gained,p.Glu484Ter,ENST00000577200,;LLGL2,downstream_gene_variant,,ENST00000578363,;LLGL2,downstream_gene_variant,,ENST00000375227,NM_001015002.1;LLGL2,synonymous_variant,p.=,ENST00000578719,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,downstream_gene_variant,,ENST00000580027,;LLGL2,upstream_gene_variant,,ENST00000579092,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;							HIGH	1450/3063	E484*	L2GL2_HUMAN			Transcript			.	ENSP00000376333		CCDS32733.1			1	
KCNU1	0	LGGM	GRCh37	8	36644890	36644890	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	13	2	.	.	ENST00000399881.3:c.262C>A	p.Arg88Ser	p.R88S	ENST00000399881	NM_001031836.2	88	Cgt/Agt	0	1	1	UPI0000F079EF	0	NA	ENST00000399881		ENSG00000215262	18867		15	1.245		HGNC	p.R88S		KCNU1		SNV							ENST00000522417	protein_coding	getma.org/?cm=var&var=hg19,8,36644890,C,A&fts=all		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		R/S		A	low	299/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=1&re=139&var=R88S	tolerated(0.15)				YES	KCNU1,missense_variant,p.Arg88Ser,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Arg88Ser,ENST00000523973,;KCNU1,missense_variant,p.Arg88Ser,ENST00000522372,;KCNU1,missense_variant,p.Arg88Ser,ENST00000522417,;							MODERATE	262/3450	R88S	KCNU1_HUMAN			Transcript		benign(0.147)	.	ENSP00000382770		CCDS55220.1			1	
MTRF1	0	LGGM	GRCh37	13	41814482	41814482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	34	3	.	.	ENST00000379480.4:c.785G>A	p.Arg262His	p.R262H	ENST00000379480	NM_004294.2	262	cGc/cAc	0	1		UPI0000035FC6	0	NA	ENST00000379477		ENSG00000120662	7469		37	2.87		HGNC	p.R262H	rs772268317	MTRF1		SNV							ENST00000379480	protein_coding	getma.org/?cm=var&var=hg19,13,41814482,C,T&fts=all		hmmpanther:PTHR11075,hmmpanther:PTHR11075:SF44,Superfamily_domains:SSF75620		R/H		T	medium	1255/1948	1.50E-05	getma.org/?cm=msa&ty=f&p=RF1M_HUMAN&rb=255&re=285&var=R262H	deleterious(0.03)					MTRF1,missense_variant,p.Arg262His,ENST00000379480,NM_004294.2;MTRF1,missense_variant,p.Arg262His,ENST00000379477,;MTRF1,missense_variant,p.Arg275His,ENST00000430347,;							MODERATE	785/1338	R262H	RF1M_HUMAN	0.000151		Transcript		probably_damaging(0.993)	.	ENSP00000368790	1.65E-05	CCDS9378.1			1	
MYO5A	0	LGGM	GRCh37	15	52664388	52664388	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	29	3	.	.	ENST00000399231.3:c.2750G>T	p.Arg917Leu	p.R917L	ENST00000399231	NM_000259.3	917	cGc/cTc	0	1	1	UPI0000E445E1	0	getma.org/pdb.php?prot=MYO5A_HUMAN&from=907&to=929&var=R917L	ENST00000399231		ENSG00000197535	7602		32	0.695		HGNC	p.R917L		MYO5A		SNV			1				ENST00000358212	protein_coding	getma.org/?cm=var&var=hg19,15,52664388,C,A&fts=all		Superfamily_domains:SSF52540,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,Coiled-coils_(Ncoils):Coil		R/L		A	neutral	2994/12225		getma.org/?cm=msa&ty=f&p=MYO5A_HUMAN&rb=877&re=959&var=R917L	deleterious(0)	Q9UES4_HUMAN			YES	MYO5A,missense_variant,p.Arg917Leu,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Arg917Leu,ENST00000399233,;MYO5A,missense_variant,p.Arg917Leu,ENST00000358212,;MYO5A,missense_variant,p.Arg917Leu,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Arg917Leu,ENST00000553916,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;							MODERATE	2750/5568	R917L	MYO5A_HUMAN			Transcript		benign(0.109)	.	ENSP00000382177		CCDS42037.1			1	
RPL3	0	LGGM	GRCh37	22	39710815	39710815	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	45	3	.	.	ENST00000216146.4:c.725G>A	p.Arg242His	p.R242H	ENST00000216146	NM_001033853.1	242	cGc/cAc	0	1	1	UPI0000167B7E	0	getma.org/pdb.php?prot=RL3_HUMAN&from=50&to=348&var=R242H	ENST00000216146		ENSG00000100316	10332		48	2.265		HGNC	p.R242H		RPL3		SNV							ENST00000216146	protein_coding	getma.org/?cm=var&var=hg19,22,39710815,C,T&fts=all		hmmpanther:PTHR11363,Gene3D:2.40.30.10,Pfam_domain:PF00297,Superfamily_domains:SSF50447		R/H		T	medium	899/1442		getma.org/?cm=msa&ty=f&p=RL3_HUMAN&rb=50&re=348&var=R242H	tolerated(0.11)	Q9NY85_HUMAN,Q9BT63_HUMAN,Q8TBW1_HUMAN,Q49AJ9_HUMAN,G5E9G0_HUMAN,B5MCW2_HUMAN,B4DN06_HUMAN			YES	RPL3,missense_variant,p.Arg242His,ENST00000216146,NM_001033853.1,NM_000967.3;RPL3,missense_variant,p.Arg190His,ENST00000401609,;RPL3,missense_variant,p.Arg190His,ENST00000402527,;RPL3,missense_variant,p.Arg269His,ENST00000453303,;RPL3,downstream_gene_variant,,ENST00000427905,;SNORD83A,downstream_gene_variant,,ENST00000386747,NR_000027.1;SNORD83B,upstream_gene_variant,,ENST00000386745,NR_000028.1;SNORD43,downstream_gene_variant,,ENST00000583861,NR_002439.1;RPL3,non_coding_transcript_exon_variant,,ENST00000465618,;RPL3,non_coding_transcript_exon_variant,,ENST00000471290,;RPL3,downstream_gene_variant,,ENST00000459859,;RPL3,non_coding_transcript_exon_variant,,ENST00000467105,;RPL3,non_coding_transcript_exon_variant,,ENST00000481985,;RPL3,downstream_gene_variant,,ENST00000484615,;RPL3,downstream_gene_variant,,ENST00000461967,;RPL3,downstream_gene_variant,,ENST00000420536,;RPL3,downstream_gene_variant,,ENST00000498462,;RPL3,downstream_gene_variant,,ENST00000460589,;RPL3,upstream_gene_variant,,ENST00000464182,;RPL3,downstream_gene_variant,,ENST00000484358,;RPL3,upstream_gene_variant,,ENST00000473638,;							MODERATE	725/1212	R242H	RL3_HUMAN			Transcript		benign(0.012)	.	ENSP00000346001		CCDS13988.1			1	
FLT4	0	LGGM	GRCh37	5	180030305	180030305	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	12	3	.	.	ENST00000261937.6:c.3979C>G	p.Arg1327Gly	p.R1327G	ENST00000261937	NM_182925.4	1327	Cga/Gga	0	1	1	UPI00001488E7	0	NA	ENST00000261937		ENSG00000037280	3767		15	0.345		HGNC	p.R1327G		FLT4		SNV			1				ENST00000261937	protein_coding	getma.org/?cm=var&var=hg19,5,180030305,G,C&fts=all		Low_complexity_(Seg):seg		R/G		C	neutral	4058/5857		getma.org/?cm=msa&ty=f&p=VGFR3_HUMAN&rb=1293&re=1363&var=R1327G	tolerated_low_confidence(0.21)	D6RFF2_HUMAN			YES	FLT4,missense_variant,p.Arg1327Gly,ENST00000261937,NM_182925.4;FLT4,downstream_gene_variant,,ENST00000393347,NM_002020.4;FLT4,downstream_gene_variant,,ENST00000502649,;FLT4,non_coding_transcript_exon_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000507059,;							MODERATE	3979/4092	R1327G	VGFR3_HUMAN			Transcript		benign(0)	.	ENSP00000261937		CCDS4457.1			1	
SORBS3	0	LGGM	GRCh37	8	22419386	22419386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	15	3	.	.	ENST00000240123.7:c.526C>A	p.His176Asn	p.H176N	ENST00000240123	NM_005775.4	176	Cat/Aat	0	1	1	UPI00001AE6B5	0	NA	ENST00000240123		ENSG00000120896	30907		18	1.1		HGNC	p.H176N		SORBS3		SNV							ENST00000517500	protein_coding	getma.org/?cm=var&var=hg19,8,22419386,C,A&fts=all		PROSITE_profiles:PS50831,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF68		H/N		A	low	909/3459		getma.org/?cm=msa&ty=f&p=VINEX_HUMAN&rb=115&re=187&var=H176N	tolerated(0.52)	E5RJP2_HUMAN,E5RIA0_HUMAN,E5RHI2_HUMAN,E5RH58_HUMAN			YES	SORBS3,missense_variant,p.His176Asn,ENST00000240123,NM_005775.4;SORBS3,missense_variant,p.His113Asn,ENST00000524057,;SORBS3,intron_variant,,ENST00000520563,;SORBS3,upstream_gene_variant,,ENST00000428103,NM_001018003.2;SORBS3,upstream_gene_variant,,ENST00000523965,;SORBS3,downstream_gene_variant,,ENST00000523402,;SORBS3,upstream_gene_variant,,ENST00000521554,;SORBS3,upstream_gene_variant,,ENST00000518912,;SORBS3,upstream_gene_variant,,ENST00000523900,;SORBS3,upstream_gene_variant,,ENST00000522721,;RP11-582J16.3,downstream_gene_variant,,ENST00000517384,;SORBS3,non_coding_transcript_exon_variant,,ENST00000518512,;SORBS3,upstream_gene_variant,,ENST00000523740,;SORBS3,downstream_gene_variant,,ENST00000522037,;SORBS3,upstream_gene_variant,,ENST00000521787,;SORBS3,missense_variant,p.His176Asn,ENST00000517500,;SORBS3,non_coding_transcript_exon_variant,,ENST00000517535,;SORBS3,upstream_gene_variant,,ENST00000520574,;SORBS3,upstream_gene_variant,,ENST00000522315,;SORBS3,upstream_gene_variant,,ENST00000519453,;							MODERATE	526/2016	H176N	VINEX_HUMAN			Transcript		benign(0.006)	.	ENSP00000240123		CCDS6031.1			1	
KIAA1279	0	LGGM	GRCh37	10	70748843	70748843	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	15	3	.	.	ENST00000361983.4:c.255G>T	p.Gly85=	p.G85=	ENST00000361983	NM_015634.3	85	ggG/ggT	0	1	1	UPI000006FCAF	0		ENST00000361983		ENSG00000198954	23419		18			HGNC	p.G85G		KIAA1279		SNV			1				ENST00000361983	protein_coding			hmmpanther:PTHR20956,hmmpanther:PTHR20956:SF0		G		T		357/2534							YES	KIAA1279,synonymous_variant,p.=,ENST00000361983,NM_015634.3;DDX21,downstream_gene_variant,,ENST00000354185,NM_001256910.1,NM_004728.3;MED28P1,upstream_gene_variant,,ENST00000399158,;							LOW	255/1866		KBP_HUMAN			Transcript			.	ENSP00000354848		CCDS7284.1			1	
ABCA13	0	LGGM	GRCh37	7	48315993	48315993	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	46	3	.	.	ENST00000435803.1:c.6730C>A	p.His2244Asn	p.H2244N	ENST00000435803	NM_152701.3	2244	Cat/Aat	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		49	1.735		HGNC	p.H2244N		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48315993,C,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		H/N		A	low	6754/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=2201&re=2400&var=H2244N					YES	ABCA13,missense_variant,p.His2244Asn,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							MODERATE	6730/15177	H2244N	ABCAD_HUMAN			Transcript		benign(0.075)	.	ENSP00000411096		CCDS47584.1			1	
ATRNL1	0	LGGM	GRCh37	10	117093875	117093875	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	35	3	.	.	ENST00000355044.3:c.3121C>A	p.Gln1041Lys	p.Q1041K	ENST00000355044	NM_207303.2	1041	Caa/Aaa	0	1	1	UPI000021CCF8	0	NA	ENST00000355044		ENSG00000107518	29063		38	2.75		HGNC	p.Q1041K		ATRNL1		SNV							ENST00000355044	protein_coding	getma.org/?cm=var&var=hg19,10,117093875,C,A&fts=all		Gene3D:2.10.25.10,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196		Q/K		A	medium	3247/8479		getma.org/?cm=msa&ty=f&p=ATRN1_HUMAN&rb=1014&re=1059&var=Q1041K	deleterious(0)				YES	ATRNL1,missense_variant,p.Gln1041Lys,ENST00000355044,NM_207303.2;ATRNL1,intron_variant,,ENST00000423111,;ATRNL1,intron_variant,,ENST00000303745,;ATRNL1,intron_variant,,ENST00000526373,;ATRNL1,intron_variant,,ENST00000534530,;							MODERATE	3121/4140	Q1041K	ATRN1_HUMAN			Transcript		benign(0.075)	.	ENSP00000347152		CCDS7592.1			1	
DARS	0	LGGM	GRCh37	2	136664938	136664938	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	36	3	.	.	ENST00000264161.4:c.1454A>C	p.Asn485Thr	p.N485T	ENST00000264161	NM_001349.2	485	aAt/aCt	0	1	1	UPI000013639B	0	getma.org/pdb.php?prot=SYDC_HUMAN&from=175&to=497&var=N485T	ENST00000264161		ENSG00000115866	2678		39	3.42		HGNC	p.N172T		DARS		SNV			1				ENST00000422708	protein_coding	getma.org/?cm=var&var=hg19,2,136664938,T,G&fts=all		Gene3D:3.30.930.10,Pfam_domain:PF00152,PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF10,Superfamily_domains:SSF55681,TIGRFAM_domain:TIGR00458		N/T		G	medium	1670/2361		getma.org/?cm=msa&ty=f&p=SYDC_HUMAN&rb=175&re=497&var=N485T	deleterious(0)	Q68CR9_HUMAN,Q53T60_HUMAN,Q53R85_HUMAN,D3DP78_HUMAN,C9JQM9_HUMAN,C9JLC1_HUMAN,C9J7S3_HUMAN			YES	DARS,missense_variant,p.Asn485Thr,ENST00000264161,NM_001349.2;DARS,missense_variant,p.Asn385Thr,ENST00000537273,;DARS,missense_variant,p.Asn172Thr,ENST00000422708,;DARS,non_coding_transcript_exon_variant,,ENST00000478212,;DARS,non_coding_transcript_exon_variant,,ENST00000489964,;DARS,downstream_gene_variant,,ENST00000491481,;							MODERATE	1454/1506	N485T	SYDC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264161		CCDS2180.1			1	
MSL2	0	LGGM	GRCh37	3	135871086	135871086	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	39	3	.	.	ENST00000309993.2:c.637G>T	p.Glu213Ter	p.E213*	ENST00000309993	NM_018133.3	213	Gaa/Taa	0	1	1	UPI000020A2D7	0	NA	ENST00000309993		ENSG00000174579	25544		42	0		HGNC	p.E139X		MSL2		SNV							ENST00000481989	protein_coding	getma.org/?cm=var&var=hg19,3,135871086,C,A&fts=all		hmmpanther:PTHR16048,hmmpanther:PTHR16048:SF2		E/*		A	NA	1370/4692		NA		C9J5S2_HUMAN,C9IZG7_HUMAN,C9IZ03_HUMAN			YES	MSL2,stop_gained,p.Glu213Ter,ENST00000309993,NM_018133.3;MSL2,stop_gained,p.Glu139Ter,ENST00000434835,NM_001145417.1;MSL2,stop_gained,p.Glu139Ter,ENST00000481989,;MSL2,stop_gained,p.Glu139Ter,ENST00000491050,;PPP2R3A,downstream_gene_variant,,ENST00000264977,NM_001190447.1,NM_002718.4;MSL2,downstream_gene_variant,,ENST00000473093,;TDGF1P6,upstream_gene_variant,,ENST00000463873,;							HIGH	637/1734	E213*	MSL2_HUMAN			Transcript			.	ENSP00000311827		CCDS33861.1			1	
PKP4	0	LGGM	GRCh37	2	159535100	159535100	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	42	4	.	.	ENST00000389759.3:c.3264C>T	p.Ser1088=	p.S1088=	ENST00000389759	NM_003628.3	1088	agC/agT	0	1	1	UPI000044D379	0		ENST00000389759		ENSG00000144283	9026		46			HGNC	p.S1088S		PKP4		SNV							ENST00000389759	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8		S		T		3376/4443				Q53TM5_HUMAN			YES	PKP4,synonymous_variant,p.=,ENST00000389757,NM_001005476.1;PKP4,synonymous_variant,p.=,ENST00000389759,NM_003628.3;AC005042.4,intron_variant,,ENST00000342892,;AC005042.4,downstream_gene_variant,,ENST00000442666,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,downstream_gene_variant,,ENST00000486254,;							LOW	3264/3579		PKP4_HUMAN			Transcript			.	ENSP00000374409		CCDS33305.1			1	
IGHV3-33	0	LGGM	GRCh37	14	106815861	106815861	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	34	4	.	.	ENST00000390615.2:c.212G>C	p.Trp71Ser	p.W71S	ENST00000390615		71	tGg/tCg	0	1	1	UPI000011AAD1	0		ENST00000390615		ENSG00000211955	5596		38			HGNC	p.W71S	rs373799062	IGHV3-33		SNV	G:0						ENST00000390615	IG_V_gene		T:0	Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,SMART_domains:SM00406,Superfamily_domains:SSF48726		W/S	G:0.0002	G		292/431	3.05E-05		tolerated_low_confidence(1)		T:0	T:0	YES	IGHV3-33,missense_variant,p.Trp71Ser,ENST00000390615,;IGHV3-32,upstream_gene_variant,,ENST00000519182,;		T:0.0028					MODERATE	212/351				T:0	Transcript		benign(0.001)	.	ENSP00000375024	2.52E-05			T:0.0143	1	
ARHGAP22	0	LGGM	GRCh37	10	49687683	49687683	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	13	4	.	.	ENST00000417912.2:c.447C>T	p.Gly149=	p.G149=	ENST00000417912		149	ggC/ggT	0	1		UPI00001B2971	0		ENST00000249601		ENSG00000128805	30320		17			HGNC	p.G149G	rs574020767,COSM243021	ARHGAP22	6.33E-05	SNV						0,1	ENST00000417912	protein_coding		A:0	Gene3D:1.10.555.10,hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF6,Superfamily_domains:SSF50729		G		A		744/2751	1.56E-05				A:0	A:0		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,intron_variant,,ENST00000471013,;ARHGAP22,upstream_gene_variant,,ENST00000515523,;ARHGAP22,synonymous_variant,p.=,ENST00000460425,;		A:0.0002			0,1		LOW	447/2097		RHG22_HUMAN		A:0.001	Transcript			.	ENSP00000249601	1.65E-05	CCDS7227.1		A:0	1	
ZNF716	0	LGGM	GRCh37	7	57528537	57528537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	89	4	.	.	ENST00000420713.1:c.370C>A	p.Gln124Lys	p.Q124K	ENST00000420713	NM_001159279.1	124	Caa/Aaa	0	1	1	UPI00004192FD	0	NA	ENST00000420713		ENSG00000182111	32458		93	1.195		HGNC	p.Q124K		ZNF716		SNV							ENST00000420713	protein_coding	getma.org/?cm=var&var=hg19,7,57528537,C,A&fts=all		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100		Q/K		A	low	482/5197		getma.org/?cm=msa&ty=f&p=ZN716_HUMAN&rb=45&re=186&var=Q124K	tolerated(0.05)				YES	ZNF716,missense_variant,p.Gln124Lys,ENST00000420713,NM_001159279.1;							MODERATE	370/1488	Q124K	ZN716_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000394248		CCDS55112.1			1	
COL19A1	0	LGGM	GRCh37	6	70856554	70856554	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	31	4	.	.	ENST00000322773.4:c.1774T>A	p.Leu592Ile	p.L592I	ENST00000322773	NM_001858.4	592	Tta/Ata	0	1	1	UPI000004F1E3	0	NA	ENST00000322773		ENSG00000082293	2196		35	0.92		HGNC	p.L592I		COL19A1		SNV							ENST00000322773	protein_coding	getma.org/?cm=var&var=hg19,6,70856554,T,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80		L/I		A	low	1876/6232		getma.org/?cm=msa&ty=f&p=COJA1_HUMAN&rb=565&re=628&var=L592I	tolerated(0.49)				YES	COL19A1,missense_variant,p.Leu592Ile,ENST00000322773,NM_001858.4;COL19A1,missense_variant,p.Leu214Ile,ENST00000393344,;							MODERATE	1774/3429	L592I	COJA1_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000316030		CCDS4970.1			1	
C5orf42	0	LGGM	GRCh37	5	37154074	37154074	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	29	4	.	.	ENST00000425232.2:c.7979G>A	p.Arg2660Gln	p.R2660Q	ENST00000425232	NM_023073.3	2660	cGa/cAa	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		33	-0.255		HGNC	p.R1558Q	rs765750324	C5orf42		SNV			1				ENST00000274258	protein_coding	getma.org/?cm=var&var=hg19,5,37154074,C,T&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		R/Q		T	neutral	8210/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=691&re=1730&var=R1558Q	tolerated(1)				YES	C5orf42,missense_variant,p.Arg1558Gln,ENST00000274258,;C5orf42,missense_variant,p.Arg2660Gln,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Arg2660Gln,ENST00000508244,;C5orf42,missense_variant,p.Arg1726Gln,ENST00000514429,;C5orf42,missense_variant,p.Arg419Gln,ENST00000511824,;C5orf42,non_coding_transcript_exon_variant,,ENST00000511210,;C5orf42,upstream_gene_variant,,ENST00000508405,;C5orf42,missense_variant,p.Arg1718Gln,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000509957,;C5orf42,non_coding_transcript_exon_variant,,ENST00000515380,;C5orf42,downstream_gene_variant,,ENST00000510830,;							MODERATE	7979/9594	R1558Q	CE042_HUMAN			Transcript		benign(0.002)	.	ENSP00000389014	8.24E-06	CCDS34146.2	0.0011		1	
HCAR2	0	LGGM	GRCh37	12	123187080	123187080	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	39	4	.	.	ENST00000328880.5:c.751C>T	p.Arg251Trp	p.R251W	ENST00000328880	NM_177551.3	251	Cgg/Tgg	0	1	1	UPI000003BCD5	0	getma.org/pdb.php?prot=HCAR2_HUMAN&from=201&to=363&var=R251W	ENST00000328880		ENSG00000182782	24827	8.65E-05	43	2.175		HGNC	p.R251W	rs776840309,COSM3398469	HCAR2	6.06E-05	SNV				9.61E-05		0,1	ENST00000328880	protein_coding	getma.org/?cm=var&var=hg19,12,123187080,G,A&fts=all		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		R/W		A	medium	811/2051		getma.org/?cm=msa&ty=f&p=HCAR2_HUMAN&rb=201&re=363&var=R251W	deleterious(0.03)				YES	HCAR2,missense_variant,p.Arg251Trp,ENST00000328880,NM_177551.3;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,intron_variant,,ENST00000543611,;					0,1		MODERATE	751/1092	R251W	HCAR2_HUMAN	0.000151		Transcript		probably_damaging(0.995)	.	ENSP00000375066	3.29E-05	CCDS9235.1			1	
HSPBP1	0	LGGM	GRCh37	19	55777508	55777508	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	4	5	.	.	ENST00000255631.5:c.787G>T	p.Glu263Ter	p.E263*	ENST00000255631	NM_012267.4	263	Gaa/Taa	0	1	1	UPI0000074015	0	NA	ENST00000255631		ENSG00000133265	24989		9	0		HGNC	p.E263X		HSPBP1		SNV							ENST00000255631	protein_coding	getma.org/?cm=var&var=hg19,19,55777508,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR19316:SF18,hmmpanther:PTHR19316		E/*		A	NA	1098/1768		NA		K7ERT9_HUMAN,K7EQQ0_HUMAN,K7EN20_HUMAN,K7EL16_HUMAN,K7EKM6_HUMAN			YES	HSPBP1,stop_gained,p.Glu263Ter,ENST00000255631,NM_012267.4,NM_001130106.1;HSPBP1,stop_gained,p.Glu263Ter,ENST00000433386,;HSPBP1,stop_gained,p.Glu263Ter,ENST00000587922,;HSPBP1,intron_variant,,ENST00000376343,;HSPBP1,intron_variant,,ENST00000585927,;HSPBP1,downstream_gene_variant,,ENST00000587959,;							HIGH	787/1080	E266*	HPBP1_HUMAN			Transcript			.	ENSP00000255631		CCDS33111.1			1	
PCSK2	0	LGGM	GRCh37	20	17417446	17417446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	21	5	.	.	ENST00000262545.2:c.803G>T	p.Ser268Ile	p.S268I	ENST00000262545	NM_002594.3	268	aGc/aTc	0	1	1	UPI0000000C6E	0	getma.org/pdb.php?prot=NEC2_HUMAN&from=162&to=454&var=S268I	ENST00000262545		ENSG00000125851	8744		26	3.7		HGNC	p.S268I		PCSK2		SNV							ENST00000262545	protein_coding	getma.org/?cm=var&var=hg19,20,17417446,G,T&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743		S/I		T	high	1118/4740		getma.org/?cm=msa&ty=f&p=NEC2_HUMAN&rb=162&re=454&var=S268I	deleterious(0)	Q9UM69_HUMAN			YES	PCSK2,missense_variant,p.Ser268Ile,ENST00000262545,NM_002594.3;PCSK2,missense_variant,p.Ser249Ile,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Ser233Ile,ENST00000536609,NM_001201529.1;							MODERATE	803/1917	S268I	NEC2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000262545		CCDS13125.1			1	
ITSN1	0	LGGM	GRCh37	21	35166650	35166650	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	45	5	.	.	ENST00000381318.3:c.1830A>T	p.Leu610=	p.L610=	ENST00000381318	NM_003024.2	610	ctA/ctT	0	1	1	UPI00001403C6	0		ENST00000381318		ENSG00000205726	6183		50			HGNC	p.L573L		ITSN1		SNV							ENST00000399353	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216		L		T		2118/17015				D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,synonymous_variant,p.=,ENST00000381318,NM_003024.2;ITSN1,synonymous_variant,p.=,ENST00000381285,;ITSN1,synonymous_variant,p.=,ENST00000399367,;ITSN1,synonymous_variant,p.=,ENST00000381291,NM_001001132.1;ITSN1,synonymous_variant,p.=,ENST00000399352,;ITSN1,synonymous_variant,p.=,ENST00000399349,;ITSN1,synonymous_variant,p.=,ENST00000399326,;ITSN1,synonymous_variant,p.=,ENST00000437442,;ITSN1,synonymous_variant,p.=,ENST00000399355,;ITSN1,synonymous_variant,p.=,ENST00000399353,;ITSN1,synonymous_variant,p.=,ENST00000379960,;ITSN1,synonymous_variant,p.=,ENST00000399338,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,upstream_gene_variant,,ENST00000419241,;							LOW	1830/5166		ITSN1_HUMAN			Transcript			.	ENSP00000370719		CCDS33545.1			1	
TCF25	0	LGGM	GRCh37	16	89949771	89949793	+	frameshift_variant	Frame_Shift_Del	DEL	GATCTTGAGGATGACCCTGTGGT	GATCTTGAGGATGACCCTGTGGT	-	novel	by Submitter	H050566	H050566N.bam	GATCTTGAGGATGACCCTGTGGT	GATCTTGAGGATGACCCTGTGGT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	14	5	.	.	ENST00000263346.8:c.207_229del	p.Asp69GlufsTer34	p.D69Efs*34	ENST00000263346	NM_014972.2	69	GATCTTGAGGATGACCCTGTGGTg/g	0	1	1	UPI000012A80B	0		ENST00000263346		ENSG00000141002	29181		19			HGNC	p.69_76del		TCF25		deletion							ENST00000561958	protein_coding			hmmpanther:PTHR22684,hmmpanther:PTHR22684:SF0		DLEDDPVV/X		-		261-283/2233							YES	TCF25,frameshift_variant,p.Asp69GlufsTer34,ENST00000263346,NM_014972.2;TCF25,frameshift_variant,p.Asp69GlufsTer34,ENST00000568412,;TCF25,frameshift_variant,p.Asp69GlufsTer34,ENST00000561958,;TCF25,frameshift_variant,p.Asp69GlufsTer34,ENST00000565196,;TCF25,upstream_gene_variant,,ENST00000562256,;TCF25,upstream_gene_variant,,ENST00000263347,;TCF25,upstream_gene_variant,,ENST00000568409,;TCF25,upstream_gene_variant,,ENST00000565404,;TCF25,non_coding_transcript_exon_variant,,ENST00000563406,;TCF25,upstream_gene_variant,,ENST00000566751,;TCF25,3_prime_UTR_variant,,ENST00000564652,;TCF25,non_coding_transcript_exon_variant,,ENST00000561585,;							HIGH	205-227/2031		TCF25_HUMAN			Transcript	2		.	ENSP00000263346		CCDS10987.1			1	
SLC11A1	0	LGGM	GRCh37	2	219247681	219247681	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	19	6	.	.	ENST00000233202.6:c.8-2A>T		p.X3_splice	ENST00000233202	NM_000578.3			0	1	1	UPI0000130520	0		ENST00000233202		ENSG00000018280	10907		25			HGNC	-		SLC11A1		SNV			1				ENST00000233202	protein_coding							T		-/3852				Q8NDV6_HUMAN			YES	SLC11A1,splice_acceptor_variant,,ENST00000233202,NM_000578.3;SLC11A1,splice_acceptor_variant,,ENST00000539932,;SLC11A1,splice_acceptor_variant,,ENST00000473367,;SLC11A1,intron_variant,,ENST00000486451,;SLC11A1,intron_variant,,ENST00000481524,;SLC11A1,splice_acceptor_variant,,ENST00000468221,;SLC11A1,splice_acceptor_variant,,ENST00000465984,;SLC11A1,splice_acceptor_variant,,ENST00000354352,;SLC11A1,splice_acceptor_variant,,ENST00000494322,;SLC11A1,splice_acceptor_variant,,ENST00000475225,;SLC11A1,splice_acceptor_variant,,ENST00000492413,;SLC11A1,intron_variant,,ENST00000469799,;SLC11A1,intron_variant,,ENST00000471875,;SLC11A1,upstream_gene_variant,,ENST00000469449,;SLC11A1,upstream_gene_variant,,ENST00000483487,;SLC11A1,upstream_gene_variant,,ENST00000460592,;							HIGH	8/1653		NRAM1_HUMAN			Transcript			.	ENSP00000233202		CCDS2415.1			1	
SLIT2	0	LGGM	GRCh37	4	20598277	20598277	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	14	6	.	.	ENST00000504154.1:c.3560A>T	p.Gln1187Leu	p.Q1187L	ENST00000504154	NM_004787.1	1187	cAg/cTg	0	1	1	UPI00000747E4	0	getma.org/pdb.php?prot=SLIT2_HUMAN&from=1160&to=1333&var=Q1187L	ENST00000504154		ENSG00000145147	11086		20	0.745		HGNC	p.Q1187L		SLIT2		SNV							ENST00000504154	protein_coding	getma.org/?cm=var&var=hg19,4,20598277,A,T&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		Q/L		T	neutral	3812/6390		getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=1160&re=1333&var=Q1187L	tolerated(0.11)	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,missense_variant,p.Gln1187Leu,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.Gln1179Leu,ENST00000503823,;SLIT2,missense_variant,p.Gln1200Leu,ENST00000273739,;SLIT2,missense_variant,p.Gln1183Leu,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000512993,;							MODERATE	3560/4590	Q1187L	SLIT2_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000422591		CCDS3426.1			1	
RND3	0	LGGM	GRCh37	2	151343868	151343868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	10	7	.	.	ENST00000375734.2:c.64G>T	p.Val22Leu	p.V22L	ENST00000375734	NM_001254738.1	22	Gtg/Ttg	0	1		UPI0000003FE9	0	getma.org/pdb.php?prot=RND3_HUMAN&from=1&to=24&var=V22L	ENST00000263895		ENSG00000115963	671		17	-0.185		HGNC	p.V22L		RND3		SNV							ENST00000439275	protein_coding	getma.org/?cm=var&var=hg19,2,151343868,C,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF24,SMART_domains:SM00173		V/L		A	neutral	248/2711		getma.org/?cm=msa&ty=f&p=RND3_HUMAN&rb=1&re=54&var=V22L	tolerated(0.55)	Q6FGN7_HUMAN,Q53RZ3_HUMAN,Q4ZFY0_HUMAN,E9PFH1_HUMAN,B4DSG7_HUMAN				RND3,missense_variant,p.Val22Leu,ENST00000375734,NM_001254738.1;RND3,missense_variant,p.Val22Leu,ENST00000263895,NM_005168.4;RND3,missense_variant,p.Val22Leu,ENST00000439275,;RND3,missense_variant,p.Val22Leu,ENST00000454202,;RND3,upstream_gene_variant,,ENST00000409557,;RND3,upstream_gene_variant,,ENST00000472416,;RND3,upstream_gene_variant,,ENST00000497865,;							MODERATE	64/735	V22L	RND3_HUMAN			Transcript		benign(0)	.	ENSP00000263895		CCDS2190.1			1	
MYO10	0	LGGM	GRCh37	5	16818261	16818261	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	26	7	.	.	ENST00000513610.1:c.136C>T	p.Gln46Ter	p.Q46*	ENST00000513610	NM_012334.2	46	Cag/Tag	0	1	1	UPI0001597062	0	NA	ENST00000513610		ENSG00000145555	7593		33	0		HGNC	p.Q46X		MYO10		SNV							ENST00000513610	protein_coding	getma.org/?cm=var&var=hg19,5,16818261,G,A&fts=all		Superfamily_domains:SSF52540,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140		Q/*		A	NA	591/8038		NA		E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,stop_gained,p.Gln46Ter,ENST00000513610,NM_012334.2;MYO10,stop_gained,p.Gln57Ter,ENST00000513882,;MYO10,stop_gained,p.Gln46Ter,ENST00000507288,;MYO10,stop_gained,p.Gln13Ter,ENST00000502436,;							HIGH	136/6177	Q46*	MYO10_HUMAN			Transcript			.	ENSP00000421280		CCDS54834.1			1	
UBP1	0	LGGM	GRCh37	3	33481262	33481262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	36	8	.	.	ENST00000283629.3:c.79G>T	p.Gly27Trp	p.G27W	ENST00000283629	NM_014517.4	27	Ggg/Tgg	0	1		UPI00000701D7	0	NA	ENST00000283628		ENSG00000153560	12507		44	0.805		HGNC	p.G27W		UBP1		SNV							ENST00000456378	protein_coding	getma.org/?cm=var&var=hg19,3,33481262,C,A&fts=all		hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF13		G/W		A	low	333/2074		getma.org/?cm=msa&ty=f&p=UBIP1_HUMAN&rb=1&re=38&var=G27W	deleterious(0)	C9JWL3_HUMAN				UBP1,missense_variant,p.Gly27Trp,ENST00000283629,NM_014517.4,NM_001128161.1;UBP1,missense_variant,p.Gly27Trp,ENST00000447368,NM_001128160.1;UBP1,missense_variant,p.Gly27Trp,ENST00000283628,;UBP1,missense_variant,p.Gly27Trp,ENST00000456378,;UBP1,intron_variant,,ENST00000496310,;							MODERATE	79/1623	G27W	UBIP1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000283628		CCDS2659.1			1	
C18orf63	0	LGGM	GRCh37	18	72010932	72010932	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	66	8	.	.	ENST00000579455.1:c.973A>G	p.Ile325Val	p.I325V	ENST00000579455	NM_001174123.1	325	Ata/Gta	0	1	1	UPI00006C192C	0	NA	ENST00000579455		ENSG00000206043	40037		74	-0.41		HGNC	p.I285V		C18orf63		SNV							ENST00000579455	protein_coding	getma.org/?cm=var&var=hg19,18,72010932,A,G&fts=all				I/V		G	neutral	1302/5127		getma.org/?cm=msa&ty=f&p=CR063_HUMAN&rb=201&re=400&var=I325V	tolerated(1)				YES	C18orf63,missense_variant,p.Ile325Val,ENST00000579455,NM_001174123.1;							MODERATE	973/2058	I325V	CR063_HUMAN			Transcript		benign(0.004)	.	ENSP00000464330		CCDS54189.1			1	
CLUL1	0	LGGM	GRCh37	18	641375	641375	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	28	9	.	.	ENST00000400606.2:c.1043G>A	p.Arg348Lys	p.R348K	ENST00000400606	NM_014410.4	348	aGg/aAg	0	1		UPI00000499ED	0	NA	ENST00000338387		ENSG00000079101	2096		37	-0.35		HGNC	p.R348K		CLUL1		SNV							ENST00000400606	protein_coding	getma.org/?cm=var&var=hg19,18,641375,G,A&fts=all		hmmpanther:PTHR10970,hmmpanther:PTHR10970:SF2,Pfam_domain:PF01093,SMART_domains:SM00035		R/K		A	neutral	1142/1897		getma.org/?cm=msa&ty=f&p=CLUL1_HUMAN&rb=32&re=466&var=R348K	tolerated(1)					CLUL1,missense_variant,p.Arg373Lys,ENST00000581619,;CLUL1,missense_variant,p.Arg400Lys,ENST00000540035,;CLUL1,missense_variant,p.Arg348Lys,ENST00000400606,NM_014410.4;CLUL1,missense_variant,p.Arg348Lys,ENST00000338387,NM_199167.1;CLUL1,missense_variant,p.Arg348Lys,ENST00000579494,;C18orf56,3_prime_UTR_variant,,ENST00000585033,;CLUL1,upstream_gene_variant,,ENST00000585155,;							MODERATE	1043/1401	R348K	CLUL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000341128		CCDS42405.1			1	
OSBPL10	0	LGGM	GRCh37	3	31743853	31743853	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	15	9	.	.	ENST00000396556.2:c.1243A>T	p.Lys415Ter	p.K415*	ENST00000396556	NM_017784.4	415	Aag/Tag	0	1	1	UPI0000130E9B	0	NA	ENST00000396556		ENSG00000144645	16395		24	0		HGNC	p.K351X		OSBPL10		SNV							ENST00000438237	protein_coding	getma.org/?cm=var&var=hg19,3,31743853,T,A&fts=all		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47		K/*		A	NA	1366/6600		NA					YES	OSBPL10,stop_gained,p.Lys184Ter,ENST00000429492,;OSBPL10,stop_gained,p.Lys415Ter,ENST00000396556,NM_017784.4;OSBPL10,stop_gained,p.Lys351Ter,ENST00000438237,NM_001174060.1;OSBPL10-AS1,upstream_gene_variant,,ENST00000428872,;OSBPL10-AS1,upstream_gene_variant,,ENST00000418728,;OSBPL10-AS1,upstream_gene_variant,,ENST00000455961,;OSBPL10-AS1,upstream_gene_variant,,ENST00000458127,;OSBPL10,splice_region_variant,,ENST00000467598,;OSBPL10,splice_region_variant,,ENST00000472175,;OSBPL10,splice_region_variant,,ENST00000479396,;OSBPL10,downstream_gene_variant,,ENST00000490009,;							HIGH	1243/2295	K415*	OSB10_HUMAN			Transcript			.	ENSP00000379804		CCDS2651.1			1	
ARHGAP25	0	LGGM	GRCh37	2	69049896	69049896	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	77	9	.	.	ENST00000409202.3:c.1625G>C	p.Gly542Ala	p.G542A	ENST00000409202		542	gGa/gCa	0	1	1	UPI0000251EDD	0	NA	ENST00000409202		ENSG00000163219	28951		86	0.69		HGNC	p.G535A		ARHGAP25		SNV							ENST00000409220	protein_coding	getma.org/?cm=var&var=hg19,2,69049896,G,C&fts=all		hmmpanther:PTHR13521,hmmpanther:PTHR13521:SF4		G/A		C	neutral	1990/2945		getma.org/?cm=msa&ty=f&p=RHG25_HUMAN&rb=370&re=643&var=G541A	tolerated(0.82)	C9JB56_HUMAN			YES	ARHGAP25,missense_variant,p.Gly541Ala,ENST00000295381,NM_001007231.2;ARHGAP25,missense_variant,p.Gly542Ala,ENST00000409202,;ARHGAP25,missense_variant,p.Gly535Ala,ENST00000409220,NM_001166276.1;ARHGAP25,missense_variant,p.Gly534Ala,ENST00000409030,NM_014882.2;ARHGAP25,missense_variant,p.Gly502Ala,ENST00000467265,NM_001166277.1;ARHGAP25,missense_variant,p.Gly401Ala,ENST00000497259,;ARHGAP25,missense_variant,p.Gly235Ala,ENST00000479844,;ARHGAP25,downstream_gene_variant,,ENST00000497079,;ARHGAP25,downstream_gene_variant,,ENST00000473986,;							MODERATE	1625/1941	G541A	RHG25_HUMAN			Transcript		benign(0.005)	.	ENSP00000386911		CCDS33214.2			1	
SPINK5	0	LGGM	GRCh37	5	147484529	147484529	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	35	9	.	.	ENST00000359874.3:c.1445G>A	p.Arg482Lys	p.R482K	ENST00000359874	NM_001127698.1	482	aGa/aAa	0	1		UPI000020CF22	0	NA	ENST00000256084		ENSG00000133710	15464		44	-0.61		HGNC	p.R482K		SPINK5		SNV			1				ENST00000256084	protein_coding	getma.org/?cm=var&var=hg19,5,147484529,G,A&fts=all		Gene3D:1.10.1890.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07648,PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00280		R/K		A	neutral	1487/3535		getma.org/?cm=msa&ty=f&p=ISK5_HUMAN&rb=451&re=495&var=R482K	tolerated(0.63)					SPINK5,missense_variant,p.Arg482Lys,ENST00000359874,NM_001127698.1;SPINK5,missense_variant,p.Arg482Lys,ENST00000256084,NM_006846.3;SPINK5,missense_variant,p.Arg482Lys,ENST00000398454,NM_001127699.1;SPINK5,missense_variant,p.Arg463Lys,ENST00000508733,;SPINK5,downstream_gene_variant,,ENST00000476608,;SPINK5,non_coding_transcript_exon_variant,,ENST00000507988,;							MODERATE	1445/3195	R482K	ISK5_HUMAN			Transcript		benign(0.009)	.	ENSP00000256084		CCDS43382.1			1	
PAX7	0	LGGM	GRCh37	1	19062396	19062396	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	14	9	.	.	ENST00000375375.3:c.1426T>A	p.Ser476Thr	p.S476T	ENST00000375375	NM_002584.2	476	Tcc/Acc	0	1		UPI0000E1E6AE	0	NA	ENST00000420770		ENSG00000009709	8621		23	0		HGNC	p.S474T		PAX7		SNV			1				ENST00000400661	protein_coding	getma.org/?cm=var&var=hg19,1,19062396,T,A&fts=all						A	neutral	-/5538		getma.org/?cm=msa&ty=f&p=PAX7_HUMAN&rb=386&re=480&var=S476T						PAX7,missense_variant,p.Ser476Thr,ENST00000375375,NM_002584.2,NM_013945.2;PAX7,missense_variant,p.Ser474Thr,ENST00000400661,;PAX7,intron_variant,,ENST00000420770,NM_001135254.1;							MODIFIER	-/1518	S476T	PAX7_HUMAN			Transcript			.	ENSP00000403389		CCDS44074.1			1	
KIF16B	0	LGGM	GRCh37	20	16348252	16348252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	48	10	.	.	ENST00000408042.1:c.3718C>A	p.Pro1240Thr	p.P1240T	ENST00000408042	NM_001199866.1	1240	Cct/Act	0	1		UPI0000206A5A	0		ENST00000354981		ENSG00000089177	15869		58			HGNC	p.P1240T		KIF16B		SNV							ENST00000408042	protein_coding							T		-/5261								KIF16B,missense_variant,p.Pro1240Thr,ENST00000408042,NM_001199866.1;KIF16B,intron_variant,,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,intron_variant,,ENST00000355755,;KIF16B,intron_variant,,ENST00000378003,;							MODIFIER	-/3954		KI16B_HUMAN			Transcript			.	ENSP00000347076		CCDS13122.1			1	
ZNF630	0	LGGM	GRCh37	X	47920258	47920258	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	28	10	.	.	ENST00000409324.3:c.82G>A	p.Ala28Thr	p.A28T	ENST00000409324	NM_001037735.2	28	Gct/Act	0	1	1	UPI0000160BE4	0	getma.org/pdb.php?prot=ZN630_HUMAN&from=8&to=48&var=A28T	ENST00000409324		ENSG00000221994	28855		38	0.89		HGNC	p.A28T		ZNF630		SNV							ENST00000409324	protein_coding	getma.org/?cm=var&var=hg19,X,47920258,C,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF216,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		A/T		T	low	309/2455		getma.org/?cm=msa&ty=f&p=ZN630_HUMAN&rb=8&re=48&var=A28T	tolerated(0.14)	B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN			YES	ZNF630,missense_variant,p.Ala14Thr,ENST00000442455,NM_001190255.1;ZNF630,missense_variant,p.Ala28Thr,ENST00000409324,NM_001037735.2;ZNF630,missense_variant,p.Ala28Thr,ENST00000428686,;ZNF630,5_prime_UTR_variant,,ENST00000276054,;ZNF630,intron_variant,,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,missense_variant,p.Ala28Thr,ENST00000428463,;							MODERATE	82/1974	A28T	ZN630_HUMAN			Transcript		benign(0.005)	.	ENSP00000386393		CCDS35237.2			1	
SMAD4	0	LGGM	GRCh37	18	48575065	48575065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	24	10	.	.	ENST00000342988.3:c.259C>T	p.Arg87Trp	p.R87W	ENST00000342988	NM_005359.5	87	Cgg/Tgg	0	1	1	UPI0000053431	0	getma.org/pdb.php?prot=SMAD4_HUMAN&from=36&to=137&var=R87W	ENST00000342988		ENSG00000141646	6770		34	2.825		HGNC	p.R87W		SMAD4		SNV			1				ENST00000591914	protein_coding	getma.org/?cm=var&var=hg19,18,48575065,C,T&fts=all		PROSITE_profiles:PS51075,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03165,Gene3D:1ozjA00,SMART_domains:SM00523,Superfamily_domains:0040928		R/W		T	medium	797/8769		getma.org/?cm=msa&ty=f&p=SMAD4_HUMAN&rb=36&re=137&var=R87W	deleterious(0.03)	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN			YES	SMAD4,missense_variant,p.Arg87Trp,ENST00000342988,NM_005359.5;SMAD4,missense_variant,p.Arg87Trp,ENST00000398417,;SMAD4,missense_variant,p.Arg87Trp,ENST00000588745,;SMAD4,missense_variant,p.Arg87Trp,ENST00000452201,;SMAD4,missense_variant,p.Arg87Trp,ENST00000591914,;SMAD4,missense_variant,p.Arg87Trp,ENST00000588860,;SMAD4,missense_variant,p.Arg87Trp,ENST00000589941,;SMAD4,missense_variant,p.Arg87Trp,ENST00000589076,;SMAD4,missense_variant,p.Arg87Trp,ENST00000590061,;SMAD4,non_coding_transcript_exon_variant,,ENST00000592911,;RP11-729L2.2,downstream_gene_variant,,ENST00000588256,;SMAD4,missense_variant,p.Arg87Trp,ENST00000592186,;RP11-729L2.2,3_prime_UTR_variant,,ENST00000590722,;SMAD4,non_coding_transcript_exon_variant,,ENST00000589706,;SMAD4,upstream_gene_variant,,ENST00000591126,;SMAD4,upstream_gene_variant,,ENST00000585448,;							MODERATE	259/1659	R87W	SMAD4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341551		CCDS11950.1			1	
OR2AG2	0	LGGM	GRCh37	11	6789433	6789433	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	19	10	.	.	ENST00000338569.2:c.756T>A	p.Tyr252Ter	p.Y252*	ENST00000338569	NM_001004490.1	252	taT/taA	0	1	1	UPI0000041C10	0	NA	ENST00000338569		ENSG00000188124	15143		29	0		HGNC	p.Y252X		OR2AG2		SNV							ENST00000338569	protein_coding	getma.org/?cm=var&var=hg19,11,6789433,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF107,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Y/*		T	NA	854/1069		NA					YES	OR2AG2,stop_gained,p.Tyr252Ter,ENST00000338569,NM_001004490.1;							HIGH	756/951	Y252*	O2AG2_HUMAN			Transcript			.	ENSP00000342697		CCDS31413.1			1	
ATRNL1	0	LGGM	GRCh37	10	117221532	117221532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	29	10	.	.	ENST00000355044.3:c.3404C>T	p.Ala1135Val	p.A1135V	ENST00000355044	NM_207303.2	1135	gCa/gTa	0	1	1	UPI000021CCF8	0	NA	ENST00000355044		ENSG00000107518	29063		39	1.43		HGNC	p.A186V		ATRNL1		SNV							ENST00000423111	protein_coding	getma.org/?cm=var&var=hg19,10,117221532,C,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224		A/V		T	low	3530/8479		getma.org/?cm=msa&ty=f&p=ATRN1_HUMAN&rb=1013&re=1212&var=A1135V	deleterious(0.02)				YES	ATRNL1,missense_variant,p.Ala1135Val,ENST00000355044,NM_207303.2;ATRNL1,missense_variant,p.Ala186Val,ENST00000423111,;ATRNL1,intron_variant,,ENST00000303745,;ATRNL1,downstream_gene_variant,,ENST00000526373,;ATRNL1,intron_variant,,ENST00000534530,;							MODERATE	3404/4140	A1135V	ATRN1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000347152		CCDS7592.1			1	
AXIN1	0	LGGM	GRCh37	16	396772	396772	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	7	11	.	.	ENST00000262320.3:c.254G>A	p.Trp85Ter	p.W85*	ENST00000262320	NM_003502.3	85	tGg/tAg	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		18	0		HGNC	p.W85X	COSM143841	AXIN1		SNV			1			1	ENST00000262320	protein_coding	getma.org/?cm=var&var=hg19,16,396772,C,T&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Gene3D:1.10.196.10,Superfamily_domains:SSF48097,Prints_domain:PR01301		W/*		T	NA	626/3643		NA					YES	AXIN1,stop_gained,p.Trp85Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Trp85Ter,ENST00000354866,NM_181050.2;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;					1		HIGH	254/2589	W85*	AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
DNAH9	0	LGGM	GRCh37	17	11648245	11648245	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	12	11	.	.	ENST00000262442.4:c.6243G>C	p.Lys2081Asn	p.K2081N	ENST00000262442	NM_001372.3	2081	aaG/aaC	0	1	1	UPI0000141BA2	0	getma.org/pdb.php?prot=DYH9_HUMAN&from=2063&to=2145&var=K2081N	ENST00000262442		ENSG00000007174	2953		23	4.74		HGNC	p.K2081N		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11648245,G,C&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		K/N		C	high	6311/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=2063&re=2145&var=K2081N		Q92865_HUMAN			YES	DNAH9,missense_variant,p.Lys2081Asn,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Lys2081Asn,ENST00000454412,;AC005701.1,upstream_gene_variant,,ENST00000584990,;							MODERATE	6243/13461	K2081N	DYH9_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000262442		CCDS11160.1			1	
SLC9C1	0	LGGM	GRCh37	3	111887871	111887871	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	25	11	.	.	ENST00000305815.5:c.3090T>G	p.Ile1030Met	p.I1030M	ENST00000305815	NM_183061.1	1030	atT/atG	0	1	1	UPI00002372C5	0	NA	ENST00000305815		ENSG00000172139	31401		36	1.24		HGNC	p.I1030M	COSM3426886	SLC9C1		SNV						1	ENST00000305815	protein_coding	getma.org/?cm=var&var=hg19,3,111887871,A,C&fts=all		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87		I/M		C	low	3343/4172		getma.org/?cm=msa&ty=f&p=S9A10_HUMAN&rb=992&re=1177&var=I1030M	tolerated(0.21)	C9J3M6_HUMAN			YES	SLC9C1,missense_variant,p.Ile1030Met,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Ile982Met,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;					1		MODERATE	3090/3534	I1030M	SL9C1_HUMAN			Transcript		benign(0.012)	.	ENSP00000306627		CCDS33817.1			1	
LGR5	0	LGGM	GRCh37	12	71953426	71953426	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	21	11	.	.	ENST00000266674.5:c.777T>A	p.Leu259=	p.L259=	ENST00000266674	NM_001277226.1	259	ctT/ctA	0	1	1	UPI000004B65C	0		ENST00000266674		ENSG00000139292	4504		32			HGNC	p.L259L		LGR5		SNV							ENST00000266674	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13306,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,SMART_domains:SM00364,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047,Superfamily_domains:SSF52058		L		A		1088/4611							YES	LGR5,synonymous_variant,p.=,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,synonymous_variant,p.=,ENST00000540815,;LGR5,synonymous_variant,p.=,ENST00000536515,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;							LOW	777/2724		LGR5_HUMAN			Transcript			.	ENSP00000266674		CCDS9000.1			1	
C1orf173	0	LGGM	GRCh37	1	75042581	75042581	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	18	11	.	.	ENST00000326665.5:c.2216G>A	p.Gly739Asp	p.G739D	ENST00000326665	NM_001002912.4	739	gGt/gAt	0	1	1	UPI0000237200	0	NA	ENST00000326665		ENSG00000178965	25346		29	0.69		HGNC	p.G739D		C1orf173		SNV							ENST00000326665	protein_coding	getma.org/?cm=var&var=hg19,1,75042581,C,T&fts=all		hmmpanther:PTHR23034		G/D		T	neutral	2435/7159		getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=411&re=1274&var=G739D	tolerated(0.08)				YES	C1orf173,missense_variant,p.Gly739Asp,ENST00000326665,NM_001002912.4;C1orf173,intron_variant,,ENST00000433746,;							MODERATE	2216/4593	G739D	CA173_HUMAN			Transcript		benign(0)	.	ENSP00000322609		CCDS30755.1			1	
PDZD2	0	LGGM	GRCh37	5	32089338	32089338	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	34	11	.	.	ENST00000438447.1:c.5784T>A	p.Ser1928=	p.S1928=	ENST00000438447		1928	tcT/tcA	0	1	1	UPI000069648B	0		ENST00000438447		ENSG00000133401	18486		45			HGNC	p.S1928S		PDZD2		SNV							ENST00000438447	protein_coding			hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		S		A		6172/11704				B4DGS3_HUMAN			YES	PDZD2,synonymous_variant,p.=,ENST00000438447,;PDZD2,synonymous_variant,p.=,ENST00000282493,NM_178140.2;							LOW	5784/8520		PDZD2_HUMAN			Transcript			.	ENSP00000402033		CCDS34137.1			1	
TFB2M	0	LGGM	GRCh37	1	246719915	246719915	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	50	11	.	.	ENST00000366514.4:c.665G>A	p.Arg222Gln	p.R222Q	ENST00000366514	NM_022366.2	222	cGa/cAa	0	1	1	UPI0000073CFC	0	getma.org/pdb.php?prot=TFB2M_HUMAN&from=72&to=379&var=R222Q	ENST00000366514		ENSG00000162851	18559		61	2.445		HGNC	p.R222Q	rs768639602	TFB2M	6.45E-05	SNV							ENST00000366514	protein_coding	getma.org/?cm=var&var=hg19,1,246719915,C,T&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF00398,PIRSF_domain:PIRSF027833,PROSITE_profiles:PS51689,hmmpanther:PTHR11727,hmmpanther:PTHR11727:SF13,SMART_domains:SM00650,Superfamily_domains:SSF53335		R/Q		T	medium	851/1848		getma.org/?cm=msa&ty=f&p=TFB2M_HUMAN&rb=72&re=379&var=R222Q	deleterious(0)				YES	TFB2M,missense_variant,p.Arg222Gln,ENST00000366514,NM_022366.2;TFB2M,3_prime_UTR_variant,,ENST00000544618,;							MODERATE	665/1191	R222Q	TFB2M_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355471	8.24E-06	CCDS1627.1			1	
DCAF7	0	LGGM	GRCh37	17	61656747	61656747	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	54	12	.	.	ENST00000415273.2:c.139-5826A>C		*47*	ENST00000415273				0	1		UPI0001AE6714	0	NA	ENST00000431926		ENSG00000136485	30915		66	0.63		HGNC	p.N116T		DCAF7		SNV							ENST00000431926	protein_coding	getma.org/?cm=var&var=hg19,17,61656747,A,C&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR19919		N/T		C	neutral	543/694		getma.org/?cm=msa&ty=f&p=DCAF7_HUMAN&rb=1&re=163&var=N116T	tolerated(0.64)	E9PCY4_HUMAN,B4DH46_HUMAN				DCAF7,missense_variant,p.Asn116Thr,ENST00000310827,NM_005828.4;DCAF7,missense_variant,p.Asn116Thr,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,;							MODERATE	347/498	N116T				Transcript		benign(0.02)	.	ENSP00000402312					1	
OR8J3	0	LGGM	GRCh37	11	55904844	55904844	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	80	12	.	.	ENST00000301529.1:c.351G>A	p.Val117=	p.V117=	ENST00000301529	NM_001004064.1	117	gtG/gtA	0	1	1	UPI0000061E99	0		ENST00000301529		ENSG00000167822	15312		92			HGNC	p.V117V		OR8J3		SNV							ENST00000301529	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V		T		351/948							YES	OR8J3,synonymous_variant,p.=,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;							LOW	351/948		OR8J3_HUMAN			Transcript			.	ENSP00000301529		CCDS31520.1			1	
C2orf71	0	LGGM	GRCh37	2	29295872	29295872	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	27	13	.	.	ENST00000331664.5:c.1256T>A	p.Met419Lys	p.M419K	ENST00000331664	NM_001029883.2	419	aTg/aAg	0	1	1	UPI0000251DD8	0	NA	ENST00000331664		ENSG00000179270	34383		40	0.69		HGNC	p.M419K		C2orf71		SNV			1				ENST00000331664	protein_coding	getma.org/?cm=var&var=hg19,2,29295872,A,T&fts=all		hmmpanther:PTHR22017,Pfam_domain:PF15449		M/K		T	neutral	1256/7044		getma.org/?cm=msa&ty=f&p=CB071_HUMAN&rb=1&re=1286&var=M419K	tolerated(0.98)				YES	C2orf71,missense_variant,p.Met419Lys,ENST00000331664,NM_001029883.2;							MODERATE	1256/3867	M419K	CB071_HUMAN			Transcript		benign(0.013)	.	ENSP00000332809		CCDS42669.1			1	
DUSP22	0	LGGM	GRCh37	6	348776	348776	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	74	13	.	.	ENST00000344450.5:c.443A>T	p.Gln148Leu	p.Q148L	ENST00000344450	NM_020185.3	148	cAg/cTg	0	1	1	UPI0000036A3C	0	NA	ENST00000344450		ENSG00000112679	16077		87	1.59		HGNC	p.Q148L		DUSP22		SNV							ENST00000344450	protein_coding	getma.org/?cm=var&var=hg19,6,348776,A,T&fts=all		Gene3D:3.90.190.10,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29		Q/L		T	low	886/1485		getma.org/?cm=msa&ty=f&p=DUS22_HUMAN&rb=142&re=184&var=Q148L	tolerated(0.13)	S4R3A4_HUMAN			YES	DUSP22,missense_variant,p.Gln45Leu,ENST00000604971,;DUSP22,missense_variant,p.Gln148Leu,ENST00000419235,NM_001286555.1;DUSP22,missense_variant,p.Gln148Leu,ENST00000344450,NM_020185.3;DUSP22,missense_variant,p.Gln45Leu,ENST00000605315,;DUSP22,missense_variant,p.Gln45Leu,ENST00000603453,;DUSP22,3_prime_UTR_variant,,ENST00000605035,;DUSP22,downstream_gene_variant,,ENST00000605863,;DUSP22,downstream_gene_variant,,ENST00000603881,;DUSP22,downstream_gene_variant,,ENST00000603296,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604914,;DUSP22,non_coding_transcript_exon_variant,,ENST00000604988,;DUSP22,downstream_gene_variant,,ENST00000603290,;DUSP22,downstream_gene_variant,,ENST00000605391,;DUSP22,downstream_gene_variant,,ENST00000603005,;DUSP22,3_prime_UTR_variant,,ENST00000603795,;DUSP22,3_prime_UTR_variant,,ENST00000603726,;							MODERATE	443/555	Q148L	DUS22_HUMAN			Transcript		benign(0)	.	ENSP00000345281		CCDS4468.1			1	
SLC17A6	0	LGGM	GRCh37	11	22399151	22399151	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	17	13	.	.	ENST00000263160.3:c.1614T>A	p.Tyr538Ter	p.Y538*	ENST00000263160	NM_020346.2	538	taT/taA	0	1	1	UPI0000073F14	0	NA	ENST00000263160		ENSG00000091664	16703		30	0		HGNC	p.Y538X		SLC17A6		SNV							ENST00000263160	protein_coding	getma.org/?cm=var&var=hg19,11,22399151,T,A&fts=all		hmmpanther:PTHR11662:SF201,hmmpanther:PTHR11662		Y/*		A	NA	2051/3949		NA					YES	SLC17A6,stop_gained,p.Tyr538Ter,ENST00000263160,NM_020346.2;							HIGH	1614/1749	Y538*	VGLU2_HUMAN			Transcript			.	ENSP00000263160		CCDS7856.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20206089	20206089	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	14	14	.	.	ENST00000379565.3:c.632-1G>A		p.X211_splice	ENST00000379565	NM_004586.2			0	1	1	UPI000012DB2E	0		ENST00000379565		ENSG00000177189	10432		28			HGNC	-		RPS6KA3		SNV			1				ENST00000379565	protein_coding							T		-/7918				Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,splice_acceptor_variant,,ENST00000379565,NM_004586.2;RPS6KA3,splice_acceptor_variant,,ENST00000544447,;RPS6KA3,splice_acceptor_variant,,ENST00000540702,;RPS6KA3,splice_acceptor_variant,,ENST00000379548,;RPS6KA3,splice_acceptor_variant,,ENST00000457145,;							HIGH	632/2223		KS6A3_HUMAN			Transcript			.	ENSP00000368884		CCDS14197.1			1	
DCDC2C	0	LGGM	GRCh37	2	3826420	3826420	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	47	14	.	.	ENST00000423741.1:c.858A>T	p.Ile286=	p.I286=	ENST00000423741	NM_001287444.1	286	atA/atT	0	1	1	UPI000173A39B	0		ENST00000423741		ENSG00000214866	32696		61			HGNC	p.I286I		DCDC2C		SNV							ENST00000423741	protein_coding			hmmpanther:PTHR23004:SF3,hmmpanther:PTHR23004		I		T		858/895				H7C242_HUMAN			YES	DCDC2C,synonymous_variant,p.=,ENST00000423741,NM_001287444.1;DCDC2C,non_coding_transcript_exon_variant,,ENST00000537457,;							LOW	858/895					Transcript			.	ENSP00000403984					1	
ANKZF1	0	LGGM	GRCh37	2	220100524	220100524	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	53	14	.	.	ENST00000323348.5:c.1898A>G	p.Gln633Arg	p.Q633R	ENST00000323348	NM_018089.2	633	cAg/cGg	0	1	1	UPI000007069C	0	NA	ENST00000323348		ENSG00000163516	25527		67	-1.6		HGNC	p.Q633R		ANKZF1		SNV							ENST00000410034	protein_coding	getma.org/?cm=var&var=hg19,2,220100524,A,G&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16036,hmmpanther:PTHR16036:SF2		Q/R		G	neutral	2072/2579		getma.org/?cm=msa&ty=f&p=ANKZ1_HUMAN&rb=567&re=726&var=Q633R	tolerated(1)	C9K022_HUMAN,C9JS61_HUMAN,C9JQZ3_HUMAN,B8ZZS4_HUMAN			YES	ANKZF1,missense_variant,p.Gln633Arg,ENST00000323348,NM_018089.2;ANKZF1,missense_variant,p.Gln633Arg,ENST00000410034,NM_001042410.1;ANKZF1,missense_variant,p.Gln423Arg,ENST00000409849,NM_001282792.1;GLB1L,downstream_gene_variant,,ENST00000295759,NM_001286423.1;GLB1L,downstream_gene_variant,,ENST00000392089,NM_024506.3;GLB1L,downstream_gene_variant,,ENST00000356283,NM_001286427.1;GLB1L,downstream_gene_variant,,ENST00000409640,NM_001286427.1;ANKZF1,downstream_gene_variant,,ENST00000436226,;GLB1L,downstream_gene_variant,,ENST00000440853,;ANKZF1,downstream_gene_variant,,ENST00000416565,;ANKZF1,downstream_gene_variant,,ENST00000447157,;ANKZF1,downstream_gene_variant,,ENST00000453432,;GLB1L,downstream_gene_variant,,ENST00000497855,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000463792,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000477479,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000460966,;ANKZF1,downstream_gene_variant,,ENST00000465550,;ANKZF1,downstream_gene_variant,,ENST00000461731,;ANKZF1,downstream_gene_variant,,ENST00000496346,;ANKZF1,downstream_gene_variant,,ENST00000467884,;ANKZF1,downstream_gene_variant,,ENST00000486203,;ANKZF1,downstream_gene_variant,,ENST00000474225,;GLB1L,downstream_gene_variant,,ENST00000447002,;ANKZF1,downstream_gene_variant,,ENST00000491181,;ANKZF1,downstream_gene_variant,,ENST00000494886,;ANKZF1,downstream_gene_variant,,ENST00000435521,;ANKZF1,downstream_gene_variant,,ENST00000475202,;ANKZF1,downstream_gene_variant,,ENST00000493563,;ANKZF1,downstream_gene_variant,,ENST00000489580,;GLB1L,downstream_gene_variant,,ENST00000459951,;ANKZF1,downstream_gene_variant,,ENST00000468387,;GLB1L,downstream_gene_variant,,ENST00000471516,;ANKZF1,downstream_gene_variant,,ENST00000483188,;ANKZF1,downstream_gene_variant,,ENST00000490526,;							MODERATE	1898/2181	Q633R	ANKZ1_HUMAN			Transcript		benign(0)	.	ENSP00000321617		CCDS42821.1			1	
DDX10	0	LGGM	GRCh37	11	108594143	108594143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	25	16	.	.	ENST00000322536.3:c.1919G>T	p.Arg640Leu	p.R640L	ENST00000322536	NM_004398.2	640	cGg/cTg	0	1	1	UPI0000140E62	0	NA	ENST00000322536		ENSG00000178105	2735		41	1.965		HGNC	p.R640L		DDX10		SNV							ENST00000322536	protein_coding	getma.org/?cm=var&var=hg19,11,108594143,G,T&fts=all				R/L		T	medium	2048/3264		getma.org/?cm=msa&ty=f&p=DDX10_HUMAN&rb=535&re=873&var=R640L	deleterious(0.02)				YES	DDX10,missense_variant,p.Arg640Leu,ENST00000526794,;DDX10,missense_variant,p.Arg640Leu,ENST00000322536,NM_004398.2;RP11-801G16.2,downstream_gene_variant,,ENST00000533503,;							MODERATE	1919/2628	R640L	DDX10_HUMAN			Transcript		possibly_damaging(0.478)	.	ENSP00000314348		CCDS8342.1			1	
TRPC4	0	LGGM	GRCh37	13	38357103	38357103	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	22	16	.	.	ENST00000379681.3:c.368G>T	p.Gly123Val	p.G123V	ENST00000379681	NM_001135955.1	123	gGa/gTa	0	1		UPI00001374B2	0	NA	ENST00000379705		ENSG00000133107	12336		38	1.685		HGNC	p.G123V		TRPC4		SNV							ENST00000488717	protein_coding	getma.org/?cm=var&var=hg19,13,38357103,C,A&fts=all		hmmpanther:PTHR10117:SF25,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		G/V		A	low	1226/4059		getma.org/?cm=msa&ty=f&p=TRPC4_HUMAN&rb=36&re=126&var=G123V	tolerated(0.07)					TRPC4,missense_variant,p.Gly123Val,ENST00000379705,;TRPC4,missense_variant,p.Gly123Val,ENST00000379681,NM_001135955.1,NM_016179.2,NM_003306.1;TRPC4,missense_variant,p.Gly123Val,ENST00000447043,;TRPC4,missense_variant,p.Gly123Val,ENST00000358477,;TRPC4,missense_variant,p.Gly123Val,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Gly123Val,ENST00000355779,NM_001135957.1;TRPC4,missense_variant,p.Gly123Val,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Gly123Val,ENST00000426868,;TRPC4,missense_variant,p.Gly123Val,ENST00000379679,;TRPC4,missense_variant,p.Gly123Val,ENST00000488717,;							MODERATE	368/2934	G123V	TRPC4_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000369027		CCDS9365.1			1	
YY1AP1	0	LGGM	GRCh37	1	155631133	155631133	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	43	17	.	.	ENST00000368339.5:c.1375G>T	p.Glu459Ter	p.E459*	ENST00000368339	NM_001198903.1	459	Gag/Tag	0	1		UPI0000141A85	0	NA	ENST00000295566		ENSG00000163374	30935		60	0		HGNC	p.E301X		YY1AP1		SNV							ENST00000404643	protein_coding	getma.org/?cm=var&var=hg19,1,155631133,C,A&fts=all		hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9		E/*		A	NA	1123/2626		NA		A3KFK2_HUMAN,A3KFK1_HUMAN				YY1AP1,stop_gained,p.Glu439Ter,ENST00000368340,NM_001198904.1;YY1AP1,stop_gained,p.Glu459Ter,ENST00000368339,NM_001198903.1;YY1AP1,stop_gained,p.Glu310Ter,ENST00000361831,NM_018253.3;YY1AP1,stop_gained,p.Glu290Ter,ENST00000407221,;YY1AP1,stop_gained,p.Glu310Ter,ENST00000359205,NM_001198900.1;YY1AP1,stop_gained,p.Glu290Ter,ENST00000311573,;YY1AP1,stop_gained,p.Glu321Ter,ENST00000355499,;YY1AP1,stop_gained,p.Glu301Ter,ENST00000404643,NM_139119.2,NM_001198905.1;YY1AP1,stop_gained,p.Glu367Ter,ENST00000295566,NM_139118.2,NM_001198906.1;YY1AP1,stop_gained,p.Glu321Ter,ENST00000368330,NM_139121.2,NM_001198901.1;YY1AP1,stop_gained,p.Glu321Ter,ENST00000347088,NM_001198902.1;YY1AP1,stop_gained,p.Glu167Ter,ENST00000535662,;YY1AP1,stop_gained,p.Glu459Ter,ENST00000405763,;MSTO1,intron_variant,,ENST00000452804,;MSTO1,intron_variant,,ENST00000538143,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000493625,;YY1AP1,non_coding_transcript_exon_variant,,ENST00000488784,;YY1AP1,non_coding_transcript_exon_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,;MSTO2P,intron_variant,,ENST00000538914,;RP11-29H23.5,upstream_gene_variant,,ENST00000500626,;							HIGH	1099/2391	E367*	YYAP1_HUMAN			Transcript			.	ENSP00000295566		CCDS1115.1			1	
KCNA4	0	LGGM	GRCh37	11	30032690	30032690	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	28	20	.	.	ENST00000328224.6:c.1536A>T	p.Pro512=	p.P512=	ENST00000328224	NM_002233.3	512	ccA/ccT	0	1	1	UPI00001649FF	0		ENST00000328224		ENSG00000182255	6222		48			HGNC	p.P512P		KCNA4		SNV							ENST00000328224	protein_coding			hmmpanther:PTHR11537:SF45,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169		P		A		2770/4172							YES	KCNA4,synonymous_variant,p.=,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;							LOW	1536/1962		KCNA4_HUMAN			Transcript			.	ENSP00000328511		CCDS41629.1			1	
TMEM136	0	LGGM	GRCh37	11	120201099	120201099	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	40	21	.	.	ENST00000314475.2:c.679T>C	p.Trp227Arg	p.W227R	ENST00000314475	NM_001198670.1	227	Tgg/Cgg	0	1		UPI0000049CF3	0	NA	ENST00000375095		ENSG00000181264	28280		61	2.075		HGNC	p.W205R	rs753228401	TMEM136		SNV							ENST00000375095	protein_coding	getma.org/?cm=var&var=hg19,11,120201099,T,C&fts=all		Pfam_domain:PF03798,hmmpanther:PTHR31898,SMART_domains:SM00724,Transmembrane_helices:TMhelix		W/R		C	medium	854/4143	1.51E-05	getma.org/?cm=msa&ty=f&p=TM136_HUMAN&rb=33&re=220&var=W205R	deleterious(0)	A8K0W5_HUMAN				TMEM136,missense_variant,p.Trp205Arg,ENST00000375095,NM_001198673.1,NM_001198671.1,NM_001198672.1,NM_001198674.1,NM_001198675.1;TMEM136,missense_variant,p.Trp227Arg,ENST00000314475,NM_001198670.1;TMEM136,intron_variant,,ENST00000529187,NM_174926.2;TMEM136,non_coding_transcript_exon_variant,,ENST00000531346,;TMEM136,downstream_gene_variant,,ENST00000524680,;							MODERATE	613/738	W205R	TM136_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000364236	8.24E-06	CCDS55793.1			1	
KMT2B	0	LGGM	GRCh37	19	36211333	36211333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	56	22	.	.	ENST00000222270.7:c.1084G>T	p.Asp362Tyr	p.D362Y	ENST00000222270	NM_014727.1	362	Gat/Tat	0	1		UPI00001376B5	0	NA	ENST00000420124		ENSG00000272333	15840		78	0		Uniprot_gn	p.D362Y		KMT2B		SNV							ENST00000222270	protein_coding	getma.org/?cm=var&var=hg19,19,36211333,G,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354		D/Y		T	neutral	1084/8469		getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1&re=780&var=D362Y						KMT2B,missense_variant,p.Asp362Tyr,ENST00000222270,NM_014727.1;KMT2B,missense_variant,p.Asp362Tyr,ENST00000420124,;KMT2B,missense_variant,p.Asp362Tyr,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,;							MODERATE	1084/8148	D362Y	KMT2B_HUMAN			Transcript		unknown(0)	.	ENSP00000398837					1	
SLC22A6	0	LGGM	GRCh37	11	62744626	62744626	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	69	22	.	.	ENST00000377871.3:c.1595T>A	p.Ile532Lys	p.I532K	ENST00000377871	NM_153278.2	532	aTa/aAa	0	1	1	UPI00000747EC	0	NA	ENST00000377871		ENSG00000197901	10970		91	0		HGNC	p.I488K		SLC22A6		SNV							ENST00000421062	protein_coding	getma.org/?cm=var&var=hg19,11,62744626,A,T&fts=all		hmmpanther:PTHR24064:SF205,hmmpanther:PTHR24064		I/K		T	neutral	1862/2151		getma.org/?cm=msa&ty=f&p=S22A6_HUMAN&rb=519&re=563&var=I532K	tolerated(1)				YES	SLC22A6,missense_variant,p.Ile532Lys,ENST00000377871,NM_153278.2,NM_004790.4;SLC22A6,missense_variant,p.Ile488Lys,ENST00000421062,;SLC22A6,intron_variant,,ENST00000360421,NM_153277.2,NM_153276.2;SLC22A6,intron_variant,,ENST00000458333,;SLC22A6,downstream_gene_variant,,ENST00000537349,;SLC22A6,intron_variant,,ENST00000540654,;							MODERATE	1595/1692	I532K	S22A6_HUMAN			Transcript		benign(0.003)	.	ENSP00000367102		CCDS31591.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84651136	84651136	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	19	22	.	.	ENST00000286744.5:c.2756G>C	p.Gly919Ala	p.G919A	ENST00000286744	NM_207517.2	919	gGt/gCt	0	1	1	UPI00001615A5	0	NA	ENST00000286744		ENSG00000156218	14633		41	2.365		HGNC	p.G919A		ADAMTSL3		SNV							ENST00000567476	protein_coding	getma.org/?cm=var&var=hg19,15,84651136,G,C&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00409		G/A		C	medium	2980/7336		getma.org/?cm=msa&ty=f&p=ATL3_HUMAN&rb=917&re=996&var=G919A	deleterious(0)				YES	ADAMTSL3,missense_variant,p.Gly919Ala,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Gly919Ala,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000562296,;ADAMTSL3,downstream_gene_variant,,ENST00000567716,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;							MODERATE	2756/5076	G919A	ATL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286744		CCDS10326.1			1	
HEATR5B	0	LGGM	GRCh37	2	37304143	37304143	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	43	23	.	.	ENST00000233099.5:c.358G>A	p.Gly120Arg	p.G120R	ENST00000233099	NM_019024.1	120	Gga/Aga	0	1	1	UPI0000160DCD	0	NA	ENST00000233099		ENSG00000008869	29273		66	2.835		HGNC	p.G120R	rs770117925	HEATR5B		SNV				9.70E-05			ENST00000233099	protein_coding	getma.org/?cm=var&var=hg19,2,37304143,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371		G/R		T	medium	454/6905		getma.org/?cm=msa&ty=f&p=HTR5B_HUMAN&rb=1&re=200&var=G120R	deleterious(0)				YES	HEATR5B,missense_variant,p.Gly120Arg,ENST00000233099,NM_019024.1;HEATR5B,missense_variant,p.Gly120Arg,ENST00000354531,;HEATR5B,upstream_gene_variant,,ENST00000478810,;							MODERATE	358/6216	G120R	HTR5B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000233099	8.24E-06	CCDS33181.1			1	
COL6A6	0	LGGM	GRCh37	3	130305497	130305497	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	79	24	.	.	ENST00000358511.6:c.4118A>T	p.Lys1373Met	p.K1373M	ENST00000358511	NM_001102608.1	1373	aAg/aTg	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		103	1.79		HGNC	p.K1373M		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130305497,A,T&fts=all		hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992		K/M		T	low	4149/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1174&re=1373&var=K1373M	deleterious(0)				YES	COL6A6,missense_variant,p.Lys1373Met,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Lys1373Met,ENST00000453409,;COL6A6,missense_variant,p.Lys131Met,ENST00000511332,;COL6A6,missense_variant,p.Lys151Met,ENST00000506143,;							MODERATE	4118/6792	K1373M	CO6A6_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000351310		CCDS46911.1			1	
SMG6	0	LGGM	GRCh37	17	2202806	2202806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	33	24	.	.	ENST00000263073.6:c.1241A>T	p.His414Leu	p.H414L	ENST00000263073	NM_017575.4	414	cAt/cTt	0	1	1	UPI00002005C8	0	NA	ENST00000263073		ENSG00000070366	17809		57	0.345		HGNC	p.H414L		SMG6		SNV							ENST00000263073	protein_coding	getma.org/?cm=var&var=hg19,17,2202806,T,A&fts=all		hmmpanther:PTHR13548,hmmpanther:PTHR13548:SF1		H/L		A	neutral	1292/5960		getma.org/?cm=msa&ty=f&p=EST1A_HUMAN&rb=402&re=440&var=H414L	deleterious(0.05)	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN			YES	SMG6,missense_variant,p.His383Leu,ENST00000544865,;SMG6,missense_variant,p.His414Leu,ENST00000263073,NM_017575.4;SRR,upstream_gene_variant,,ENST00000344595,NM_021947.1;SRR,upstream_gene_variant,,ENST00000576848,;SRR,upstream_gene_variant,,ENST00000574987,;SRR,upstream_gene_variant,,ENST00000575840,;SRR,upstream_gene_variant,,ENST00000576620,;SRR,upstream_gene_variant,,ENST00000572709,;							MODERATE	1241/4260	H414L	EST1A_HUMAN			Transcript		benign(0.027)	.	ENSP00000263073		CCDS11016.1			1	
ELP4	0	LGGM	GRCh37	11	31804973	31804973	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	81	24	.	.	ENST00000350638.5:c.1176A>T	p.Thr392=	p.T392=	ENST00000350638	NM_019040.3	392	acA/acT	0	1	1	UPI0000074047	0		ENST00000350638		ENSG00000109911	1171		105			HGNC	p.S440C		ELP4		SNV							ENST00000379163	protein_coding			hmmpanther:PTHR12896:SF1,hmmpanther:PTHR12896,Pfam_domain:PF05625		T		T		1211/1784				Q9H4R8_HUMAN			YES	ELP4,missense_variant,p.Gln535Leu,ENST00000395934,NM_001288726.1;ELP4,missense_variant,p.Ser440Cys,ENST00000379163,NM_001288725.1;ELP4,synonymous_variant,p.=,ENST00000350638,NM_019040.3;PAX6,downstream_gene_variant,,ENST00000419022,NM_001258462.1,NM_001127612.1,NM_001258463.1;Z83307.3,downstream_gene_variant,,ENST00000606377,;							LOW	1176/1275		ELP4_HUMAN			Transcript			.	ENSP00000298937		CCDS7875.2			1	
OR4D11	0	LGGM	GRCh37	11	59271895	59271895	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	67	24	.	.	ENST00000313253.1:c.847A>T	p.Asn283Tyr	p.N283Y	ENST00000313253	NM_001004706.1	283	Aac/Tac	0	1	1	UPI0000046486	0	NA	ENST00000313253		ENSG00000176200	15174		91	2.655		HGNC	p.N283Y		OR4D11		SNV							ENST00000313253	protein_coding	getma.org/?cm=var&var=hg19,11,59271895,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF200,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245		N/Y		T	medium	847/936		getma.org/?cm=msa&ty=f&p=OR4DB_HUMAN&rb=281&re=311&var=N283Y	deleterious(0)				YES	OR4D11,missense_variant,p.Asn283Tyr,ENST00000313253,NM_001004706.1;							MODERATE	847/936	N283Y	OR4DB_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000320077		CCDS31563.1			1	
AGBL4	0	LGGM	GRCh37	1	49128915	49128915	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	57	26	.	.	ENST00000371839.1:c.635-2A>T		p.X212_splice	ENST00000371839	NM_032785.3			0	1	1	UPI00002042F9	0		ENST00000371839		ENSG00000186094	25892		83			HGNC	-		AGBL4		SNV							ENST00000371839	protein_coding							A		-/2947							YES	AGBL4,splice_acceptor_variant,,ENST00000416121,;AGBL4,splice_acceptor_variant,,ENST00000371839,NM_032785.3;AGBL4,splice_acceptor_variant,,ENST00000371838,;AGBL4,splice_acceptor_variant,,ENST00000334103,;							HIGH	635/1512		CBPC6_HUMAN			Transcript			.	ENSP00000360905		CCDS44137.1			1	
MYOM1	0	LGGM	GRCh37	18	3164380	3164380	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	61	26	.	.	ENST00000356443.4:c.1397C>T	p.Thr466Met	p.T466M	ENST00000356443	NM_019856.1	466	aCg/aTg	0	1	1	UPI000022A657	0	getma.org/pdb.php?prot=MYOM1_HUMAN&from=405&to=499&var=T466M	ENST00000356443		ENSG00000101605	7613		87	1.955		HGNC	p.T466M	rs561012778	MYOM1	0.00163	SNV							ENST00000356443	protein_coding	getma.org/?cm=var&var=hg19,18,3164380,G,A&fts=all	A:0	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		T/M		A	medium	1731/5847	1.87E-05	getma.org/?cm=msa&ty=f&p=MYOM1_HUMAN&rb=405&re=499&var=T466M	deleterious(0.02)		A:0	A:0	YES	MYOM1,missense_variant,p.Thr466Met,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,missense_variant,p.Thr466Met,ENST00000400569,;MYOM1,missense_variant,p.Thr466Met,ENST00000261606,;		A:0.0008					MODERATE	1397/5058	T466M	MYOM1_HUMAN		A:0	Transcript		probably_damaging(0.982)	common_variant	ENSP00000348821	0.000198	CCDS45824.1		A:0.0041	1	
RGS12	0	LGGM	GRCh37	4	3319691	3319693	+	inframe_deletion	In_Frame_Del	DEL	GAA	GAA	-	novel	by Submitter	H050566	H050566N.bam	GAA	GAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	45	28	.	.	ENST00000344733.5:c.1796_1798del	p.Lys599del	p.K599del	ENST00000344733	NM_198229.2	598	ccGAAg/ccg	0	1		UPI000002B264	0		ENST00000336727		ENSG00000159788	9994		73			HGNC	p.598_599del		RGS12		deletion							ENST00000336727	protein_coding			hmmpanther:PTHR10845:SF149,hmmpanther:PTHR10845		PK/P		-		2698-2700/6240				Q69YN1_HUMAN,Q56A82_HUMAN,E9PBG5_HUMAN				RGS12,inframe_deletion,p.Lys599del,ENST00000336727,NM_002926.3;RGS12,inframe_deletion,p.Lys599del,ENST00000382788,;RGS12,inframe_deletion,p.Lys599del,ENST00000344733,NM_198229.2;RGS12,inframe_deletion,p.Lys599del,ENST00000543385,;RGS12,upstream_gene_variant,,ENST00000511805,;RP11-357G3.2,downstream_gene_variant,,ENST00000600073,;RGS12,inframe_deletion,p.Lys599del,ENST00000514268,;RGS12,non_coding_transcript_exon_variant,,ENST00000502947,;RGS12,intron_variant,,ENST00000506631,;							MODERATE	1794-1796/4131		RGS12_HUMAN			Transcript	2		.	ENSP00000338509		CCDS3367.1			1	
CUBN	0	LGGM	GRCh37	10	17110664	17110664	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050566	H050566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	80	29	.	.	ENST00000377833.4:c.2731G>A	p.Val911Met	p.V911M	ENST00000377833	NM_001081.3	911	Gtg/Atg	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=817&to=925&var=V911M	ENST00000377833		ENSG00000107611	2548	0.000173	109	2.215		HGNC	p.V911M	rs768821054	CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,17110664,C,T&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854		V/M		T	medium	2797/11949	1.50E-05	getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=817&re=925&var=V911M	tolerated(0.14)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Val911Met,ENST00000377833,NM_001081.3;							MODERATE	2731/10872	V911M	CUBN_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000367064	2.47E-05	CCDS7113.1			1	
MTOR	0	LGGM	GRCh37	1	11199640	11199640	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	54	31	.	.	ENST00000361445.4:c.4948A>G	p.Met1650Val	p.M1650V	ENST00000361445	NM_004958.3	1650	Atg/Gtg	0	1	1	UPI000012ABD3	0	NA	ENST00000361445		ENSG00000198793	3942		85	1.055		HGNC	p.M1650V		MTOR		SNV			1				ENST00000361445	protein_coding	getma.org/?cm=var&var=hg19,1,11199640,T,C&fts=all		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF02259		M/V		C	low	5025/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=1513&re=1908&var=M1650V	tolerated(0.09)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Met1650Val,ENST00000361445,NM_004958.3;MTOR-AS1,upstream_gene_variant,,ENST00000445982,;MTOR-AS1,upstream_gene_variant,,ENST00000420480,;MTOR,non_coding_transcript_exon_variant,,ENST00000495435,;MTOR,non_coding_transcript_exon_variant,,ENST00000476768,;							MODERATE	4948/7650	M1650V	MTOR_HUMAN			Transcript		benign(0.322)	.	ENSP00000354558		CCDS127.1			1	
TTN	0	LGGM	GRCh37	2	179594120	179594120	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	102	35	.	.	ENST00000589042.1:c.18763A>G	p.Asn6255Asp	p.N6255D	ENST00000589042	NM_001267550.1	6255	Aac/Gac	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=5882&to=5971&var=N5938D	ENST00000591111		ENSG00000155657	12403		137	0.75		HGNC	p.N6255D		TTN		SNV			1				ENST00000589042	protein_coding	getma.org/?cm=var&var=hg19,2,179594120,T,C&fts=all		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		N/D		C	neutral	18037/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=5882&re=5971&var=N5938D		C9JQJ2_HUMAN				TTN,missense_variant,p.Asn6255Asp,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Asn5938Asp,ENST00000591111,;TTN,missense_variant,p.Asn5011Asp,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,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;							MODERATE	17812/103053	N5938D	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PTCHD4	0	LGGM	GRCh37	6	47847561	47847561	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	63	36	.	.	ENST00000339488.4:c.1019A>C	p.Tyr340Ser	p.Y340S	ENST00000339488	NM_001013732.3	340	tAt/tCt	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		99	1.1		HGNC	p.Y340S		PTCHD4		SNV							ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,47847561,T,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866		Y/S		G	low	1053/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=233&re=392&var=Y340S	deleterious(0.01)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Tyr340Ser,ENST00000339488,NM_001013732.3;							MODERATE	1019/2541	Y340S	PTHD4_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000341914		CCDS34473.2			1	
GPR158	0	LGGM	GRCh37	10	25887263	25887263	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050566	H050566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	134	40	.	.	ENST00000376351.3:c.2708T>A	p.Leu903His	p.L903H	ENST00000376351	NM_020752.2	903	cTc/cAc	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		174	1.87		HGNC	p.L903H		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25887263,T,A&fts=all		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546		L/H		A	low	3067/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=870&re=1069&var=L903H	deleterious(0.03)				YES	GPR158,missense_variant,p.Leu903His,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;							MODERATE	2708/3648	L903H	GP158_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000365529		CCDS31166.1			1	
CD5L	0	LGGM	GRCh37	1	157805856	157805856	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050566	H050566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	58	43	.	.	ENST00000368174.4:c.145T>A	p.Cys49Ser	p.C49S	ENST00000368174	NM_005894.2	49	Tgt/Agt	0	1	1	UPI000012738C	0	getma.org/pdb.php?prot=CD5L_HUMAN&from=27&to=125&var=C49S	ENST00000368174		ENSG00000073754	1690		101	3.435		HGNC	p.C49S		CD5L		SNV							ENST00000368174	protein_coding	getma.org/?cm=var&var=hg19,1,157805856,A,T&fts=all		Gene3D:3.10.250.10,Pfam_domain:PF00530,Prints_domain:PR00258,PROSITE_patterns:PS00420,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246,SMART_domains:SM00202,Superfamily_domains:SSF56487		C/S		T	medium	242/2191		getma.org/?cm=msa&ty=f&p=CD5L_HUMAN&rb=27&re=125&var=C49S	deleterious(0)				YES	CD5L,missense_variant,p.Cys49Ser,ENST00000368174,NM_005894.2;CD5L,non_coding_transcript_exon_variant,,ENST00000484609,;							MODERATE	145/1044	C49S	CD5L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357156		CCDS1171.1			1	
POTEE	0	LGGM	GRCh37	2	131976123	131976123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050566	H050566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050566N.bam, H050566T.bam	Illumina HiSeq	245	104	.	.	ENST00000356920.5:c.148G>A	p.Asp50Asn	p.D50N	ENST00000356920	NM_001083538.1	50	Gac/Aac	0	1	1	UPI0000F58EC8	0	NA	ENST00000356920		ENSG00000188219	33895		349	0.55		HGNC	p.D50N	COSM3425199,COSM3425200	POTEE		SNV						1,1	ENST00000358087	protein_coding	getma.org/?cm=var&var=hg19,2,131976123,G,A&fts=all		hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118		D/N		A	neutral	242/4031		getma.org/?cm=msa&ty=f&p=POTEE_HUMAN&rb=1&re=142&var=D50N	tolerated_low_confidence(0.05)				YES	POTEE,missense_variant,p.Asp50Asn,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Asp50Asn,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,intron_variant,,ENST00000514256,;					1,1		MODERATE	148/3228	D50N	POTEE_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000439189		CCDS46414.1			1	
LURAP1	0	LGGM	GRCh37	1	46669221	46669221	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	8	2	.	.	ENST00000371980.3:c.123C>A	p.Gly41=	p.G41=	ENST00000371980	NM_001013615.2	41	ggC/ggA	0	1	1	UPI0000072C34	0		ENST00000371980		ENSG00000171357	32327		10			HGNC	p.G41G		LURAP1		SNV							ENST00000371980	protein_coding			Pfam_domain:PF14854		G		A		216/1854							YES	LURAP1,synonymous_variant,p.=,ENST00000371980,NM_001013615.2;POMGNT1,intron_variant,,ENST00000396420,;POMGNT1,intron_variant,,ENST00000371992,NM_001243766.1;							LOW	123/720		LURA1_HUMAN			Transcript			.	ENSP00000361048		CCDS30703.1			1	
MGMT	0	LGGM	GRCh37	10	131565221	131565221	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	5	2	.	.	ENST00000306010.7:c.677C>A	p.Ala226Glu	p.A226E	ENST00000306010	NM_002412.3	226	gCg/gAg	0	1	1	UPI00017A6D43	0	NA	ENST00000306010		ENSG00000170430	7059		7	0		HGNC	p.A226E		MGMT		SNV			1				ENST00000306010	protein_coding	getma.org/?cm=var&var=hg19,10,131565221,C,A&fts=all		hmmpanther:PTHR10815:SF5,hmmpanther:PTHR10815,Low_complexity_(Seg):seg		A/E		A	neutral	709/1759		getma.org/?cm=msa&ty=f&p=MGMT_HUMAN&rb=178&re=207&var=A195E	tolerated_low_confidence(0.58)	Q6LDD1_HUMAN,B4DEE8_HUMAN			YES	MGMT,missense_variant,p.Ala226Glu,ENST00000306010,NM_002412.3;RP11-109A6.3,upstream_gene_variant,,ENST00000428273,;							MODERATE	677/717	A195E	MGMT_HUMAN			Transcript		unknown(0)	.	ENSP00000302111		CCDS7660.2			1	
SVEP1	0	LGGM	GRCh37	9	113341777	113341777	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	7	2	.	.	ENST00000401783.2:c.47C>T	p.Ser16Leu	p.S16L	ENST00000401783	NM_153366.3	16	tCg/tTg	0	1		UPI0000458920	0	NA	ENST00000374469		ENSG00000165124	15985		9	0.805		HGNC	p.S16L		SVEP1		SNV							ENST00000401783	protein_coding	getma.org/?cm=var&var=hg19,9,113341777,G,A&fts=all						A	low	242/12194		getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=1&re=68&var=S16L						SVEP1,missense_variant,p.Ser16Leu,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Ser16Leu,ENST00000302728,;SVEP1,5_prime_UTR_variant,,ENST00000374469,;SVEP1,5_prime_UTR_variant,,ENST00000374461,;							MODIFIER	-/10647	S16L				Transcript			.	ENSP00000363593					1	
PDXDC1	0	LGGM	GRCh37	16	15095667	15095667	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	14	2	.	.	ENST00000396410.4:c.196C>G	p.Gln66Glu	p.Q66E	ENST00000396410	NM_015027.2	66	Cag/Gag	0	1	1	UPI000004A864	0	NA	ENST00000396410		ENSG00000179889	28995		16	1.995		HGNC	p.Q84E		PDXDC1		SNV							ENST00000563679	protein_coding	getma.org/?cm=var&var=hg19,16,15095667,C,G&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73,Superfamily_domains:SSF53383		Q/E		G	medium	293/3884		getma.org/?cm=msa&ty=f&p=PDXD1_HUMAN&rb=1&re=154&var=Q66E	tolerated(0.14)	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN			YES	PDXDC1,missense_variant,p.Gln66Glu,ENST00000396410,NM_015027.2,NM_001285447.1;PDXDC1,missense_variant,p.Gln84Glu,ENST00000563679,;PDXDC1,missense_variant,p.Gln51Glu,ENST00000325823,;PDXDC1,missense_variant,p.Gln66Glu,ENST00000455313,NM_001285450.1;PDXDC1,missense_variant,p.Gln66Glu,ENST00000535621,NM_001285449.1;PDXDC1,missense_variant,p.Gln51Glu,ENST00000567306,;PDXDC1,missense_variant,p.Gln51Glu,ENST00000563522,;PDXDC1,missense_variant,p.Gln111Glu,ENST00000563667,;PDXDC1,intron_variant,,ENST00000569715,NM_001285444.1;PDXDC1,intron_variant,,ENST00000450288,NM_001285445.1;PDXDC1,intron_variant,,ENST00000447912,NM_001285448.1;PDXDC1,downstream_gene_variant,,ENST00000566426,;PDXDC1,missense_variant,p.Gln66Glu,ENST00000565362,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,intron_variant,,ENST00000562119,;							MODERATE	196/2367	Q66E	PDXD1_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000379691		CCDS32393.1			1	
SALL4	0	LGGM	GRCh37	20	50408264	50408264	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	15	2	.	.	ENST00000217086.4:c.758G>C	p.Gly253Ala	p.G253A	ENST00000217086	NM_020436.3	253	gGg/gCg	0	1	1	UPI0000135527	0	NA	ENST00000217086		ENSG00000101115	15924		17	0.805		HGNC	p.G253A		SALL4		SNV			1				ENST00000217086	protein_coding	getma.org/?cm=var&var=hg19,20,50408264,C,G&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19,Low_complexity_(Seg):seg		G/A		G	low	870/3497		getma.org/?cm=msa&ty=f&p=SALL4_HUMAN&rb=96&re=366&var=G253A	tolerated(0.96)				YES	SALL4,missense_variant,p.Gly253Ala,ENST00000217086,NM_020436.3;SALL4,missense_variant,p.Gly253Ala,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;							MODERATE	758/3162	G253A	SALL4_HUMAN			Transcript		possibly_damaging(0.547)	.	ENSP00000217086		CCDS13438.1			1	
NTN5	0	LGGM	GRCh37	19	49174151	49174151	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	7	2	.	.	ENST00000270235.4:c.93G>T	p.Pro31=	p.P31=	ENST00000270235	NM_145807.1	31	ccG/ccT	0	1	1	UPI000007032D	0		ENST00000270235		ENSG00000142233	25208		9			HGNC	p.P31P		NTN5		SNV							ENST00000270235	protein_coding					P		A		189/1836				M0QXZ9_HUMAN			YES	NTN5,synonymous_variant,p.=,ENST00000270235,NM_145807.1;NTN5,intron_variant,,ENST00000596844,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;NTN5,non_coding_transcript_exon_variant,,ENST00000600468,;SEC1P,intron_variant,,ENST00000521217,;							LOW	93/1470		NET5_HUMAN			Transcript			.	ENSP00000270235		CCDS33068.1			1	
BRINP2	0	LGGM	GRCh37	1	177249691	177249691	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	11	3	.	.	ENST00000361539.4:c.1379T>C	p.Leu460Ser	p.L460S	ENST00000361539	NM_021165.2	460	tTg/tCg	0	1	1	UPI000006DF55	0	NA	ENST00000361539		ENSG00000198797	13746		14	1.1		HGNC	p.L460S		BRINP2		SNV							ENST00000361539	protein_coding	getma.org/?cm=var&var=hg19,1,177249691,T,C&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5		L/S		C	low	1691/3558		getma.org/?cm=msa&ty=f&p=FAM5B_HUMAN&rb=394&re=593&var=L460S	deleterious(0)				YES	BRINP2,missense_variant,p.Leu460Ser,ENST00000361539,NM_021165.2;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;							MODERATE	1379/2352	L460S	BRNP2_HUMAN			Transcript		benign(0.003)	.	ENSP00000354481		CCDS1320.1			1	
FCGR3B	0	LGGM	GRCh37	1	161599634	161599634	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	42	3	.	.	ENST00000531221.1:c.361G>C	p.Gly121Arg	p.G121R	ENST00000531221		121	Gga/Cga	0	1		UPI0000D62032	0	getma.org/pdb.php?prot=FCG3B_HUMAN&from=26&to=104&var=G85R	ENST00000294800		ENSG00000162747	3620		45	4.215		HGNC	p.G85R		FCGR3B		SNV							ENST00000367964	protein_coding	getma.org/?cm=var&var=hg19,1,161599634,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/R		G	high	527/2289		getma.org/?cm=msa&ty=f&p=FCG3B_HUMAN&rb=26&re=104&var=G85R	deleterious(0)	E9PNY5_HUMAN				FCGR3B,missense_variant,p.Gly85Arg,ENST00000294800,NM_001271035.1,NM_001244753.1;FCGR3B,missense_variant,p.Gly85Arg,ENST00000367964,NM_000570.4,NM_001271036.1;FCGR3B,missense_variant,p.Gly121Arg,ENST00000531221,;FCGR3B,missense_variant,p.Gly106Arg,ENST00000421702,;FCGR3B,missense_variant,p.Gly68Arg,ENST00000534776,;FCGR2B,intron_variant,,ENST00000367962,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000403078,;FCGR3A,intron_variant,,ENST00000540048,;FCGR2B,intron_variant,,ENST00000428605,;FCGR3B,non_coding_transcript_exon_variant,,ENST00000533780,;FCGR3B,downstream_gene_variant,,ENST00000534489,;							MODERATE	253/702	G85R	FCG3B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000294800		CCDS41433.1			1	
ZSCAN12	0	LGGM	GRCh37	6	28359193	28359193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	32	3	.	.	ENST00000361028.1:c.874C>A	p.His292Asn	p.H292N	ENST00000361028		292	Cat/Aat	0	1	1	UPI000013C353	0	getma.org/pdb.php?prot=ZSC12_HUMAN&from=288&to=312&var=H292N	ENST00000361028		ENSG00000158691	13172		35	3.855		HGNC	p.H292N		ZSCAN12		SNV							ENST00000396827	protein_coding	getma.org/?cm=var&var=hg19,6,28359193,G,T&fts=all		Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23226:SF19,hmmpanther:PTHR23226,PROSITE_profiles:PS50157		H/N		T	high	1020/5495		getma.org/?cm=msa&ty=f&p=ZSC12_HUMAN&rb=268&re=332&var=H292N	deleterious(0)				YES	ZSCAN12,missense_variant,p.His292Asn,ENST00000361028,;ZSCAN12,missense_variant,p.His292Asn,ENST00000396827,;							MODERATE	874/1815	H292N	ZSC12_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000354305					1	
EPHA8	0	LGGM	GRCh37	1	22927833	22927833	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	14	3	.	.	ENST00000166244.3:c.2770C>A	p.Arg924=	p.R924=	ENST00000166244	NM_020526.3	924	Cga/Aga	0	1	1	UPI000012A07B	0		ENST00000166244		ENSG00000070886	3391		17			HGNC	p.R924R		EPHA8		SNV							ENST00000166244	protein_coding			PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274		R		A		2842/4943							YES	EPHA8,synonymous_variant,p.=,ENST00000166244,NM_020526.3;							LOW	2770/3018		EPHA8_HUMAN			Transcript			.	ENSP00000166244		CCDS225.1			1	
TBC1D13	0	LGGM	GRCh37	9	131568579	131568579	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	27	3	.	.	ENST00000372648.5:c.1126C>T	p.Arg376Trp	p.R376W	ENST00000372648	NM_018201.3	376	Cgg/Tgg	0	1	1	UPI000013E816	0	NA	ENST00000372648		ENSG00000107021	25571		30	1.935		HGNC	p.R376W		TBC1D13		SNV							ENST00000372648	protein_coding	getma.org/?cm=var&var=hg19,9,131568579,C,T&fts=all		hmmpanther:PTHR22957:SF252,hmmpanther:PTHR22957,Superfamily_domains:SSF47923		R/W		T	medium	1276/3906		getma.org/?cm=msa&ty=f&p=TBC13_HUMAN&rb=368&re=400&var=R376W	deleterious(0)	Q59F95_HUMAN,B4DHM6_HUMAN,B3KW04_HUMAN			YES	TBC1D13,missense_variant,p.Arg376Trp,ENST00000372648,NM_018201.3;TBC1D13,missense_variant,p.Arg195Trp,ENST00000539497,;TBC1D13,missense_variant,p.Arg251Trp,ENST00000223865,NM_001286772.1;TBC1D13,downstream_gene_variant,,ENST00000466056,;							MODERATE	1126/1203	R376W	TBC13_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000361731		CCDS6911.1			1	
SPATC1	0	LGGM	GRCh37	8	145095315	145095315	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	10	3	.	.	ENST00000377470.3:c.717C>A	p.Pro239=	p.P239=	ENST00000377470	NM_198572.2	239	ccC/ccA	0	1	1	UPI00001D8243	0		ENST00000377470		ENSG00000186583	30510		13			HGNC	p.P239P		SPATC1		SNV							ENST00000447830	protein_coding			hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16		P		A		819/1954							YES	SPATC1,synonymous_variant,p.=,ENST00000377470,NM_198572.2;SPATC1,synonymous_variant,p.=,ENST00000447830,NM_001134374.1;							LOW	717/1776		SPERI_HUMAN			Transcript			.	ENSP00000366690		CCDS6413.2			1	
EGFLAM	0	LGGM	GRCh37	5	38464038	38464038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	17	3	.	.	ENST00000354891.3:c.3004G>A	p.Val1002Met	p.V1002M	ENST00000354891	NM_001205301.1	1002	Gtg/Atg	0	1	1	UPI000022C806	0	getma.org/pdb.php?prot=EGFLA_HUMAN&from=835&to=1014&var=V1002M	ENST00000354891		ENSG00000164318	26810		20	0.955		HGNC	p.V1002M	rs372253494	EGFLAM		SNV	A:0						ENST00000354891	protein_coding	getma.org/?cm=var&var=hg19,5,38464038,G,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200		V/M	A:0.0001	A	low	3350/3963	1.50E-05	getma.org/?cm=msa&ty=f&p=EGFLA_HUMAN&rb=835&re=1014&var=V1002M	deleterious(0.02)	D6RJD2_HUMAN			YES	EGFLAM,missense_variant,p.Val994Met,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Val1002Met,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Val760Met,ENST00000336740,NM_182798.2;EGFLAM,missense_variant,p.Val360Met,ENST00000397202,;EGFLAM,missense_variant,p.Val137Met,ENST00000397210,NM_182801.2;EGFLAM,missense_variant,p.Val137Met,ENST00000506135,;EGFLAM,missense_variant,p.Val137Met,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,;							MODERATE	3004/3054	V1002M	EGFLA_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000346964	8.24E-06	CCDS56363.1			1	
CAPSL	0	LGGM	GRCh37	5	35921188	35921188	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	22	3	.	.	ENST00000397367.2:c.35C>A	p.Ala12Glu	p.A12E	ENST00000397367	NM_144647.3	12	gCg/gAg	0	1		UPI0000149B20	0	NA	ENST00000397366		ENSG00000152611	28375		25	1.995		HGNC	p.A12E	rs770162293	CAPSL	6.06E-05	SNV							ENST00000514524	protein_coding	getma.org/?cm=var&var=hg19,5,35921188,G,T&fts=all		hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF551		A/E		T	medium	130/969		getma.org/?cm=msa&ty=f&p=CAPSL_HUMAN&rb=1&re=41&var=A12E	tolerated(0.91)	D6RF97_HUMAN				CAPSL,missense_variant,p.Ala12Glu,ENST00000397367,NM_144647.3;CAPSL,missense_variant,p.Ala12Glu,ENST00000397366,NM_001042625.1;CAPSL,missense_variant,p.Ala12Glu,ENST00000513623,;CAPSL,missense_variant,p.Ala12Glu,ENST00000514524,;							MODERATE	35/627	A12E	CAPSL_HUMAN			Transcript		benign(0.049)	.	ENSP00000380523	8.24E-06	CCDS3912.2			1	
RNF146	0	LGGM	GRCh37	6	127608279	127608279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	39	3	.	.	ENST00000368314.1:c.521C>A	p.Pro174Gln	p.P174Q	ENST00000368314	NM_001242850.1	174	cCa/cAa	0	1	1	UPI000007395E	0	getma.org/pdb.php?prot=RN146_HUMAN&from=169&to=359&var=P174Q	ENST00000368314		ENSG00000118518	21336		42	1.895		HGNC	p.P174Q		RNF146		SNV							ENST00000368314	protein_coding	getma.org/?cm=var&var=hg19,6,127608279,C,A&fts=all		hmmpanther:PTHR13417,Low_complexity_(Seg):seg,SMART_domains:SM00678,Superfamily_domains:SSF117839		P/Q		A	low	945/2369		getma.org/?cm=msa&ty=f&p=RN146_HUMAN&rb=169&re=359&var=P174Q	deleterious(0)				YES	RNF146,missense_variant,p.Pro174Gln,ENST00000368314,NM_001242850.1,NM_001242851.1;RNF146,missense_variant,p.Pro173Gln,ENST00000608991,NM_001242846.1;RNF146,missense_variant,p.Pro173Gln,ENST00000309649,NM_001242845.1,NM_030963.3,NM_001242844.1;RNF146,missense_variant,p.Pro174Gln,ENST00000610153,NM_001242849.1;RNF146,3_prime_UTR_variant,,ENST00000356799,NM_001242852.1;ECHDC1,downstream_gene_variant,,ENST00000531967,NM_001139510.1;ECHDC1,downstream_gene_variant,,ENST00000474289,;ECHDC1,downstream_gene_variant,,ENST00000454859,NM_001002030.1;ECHDC1,downstream_gene_variant,,ENST00000454591,NM_001105544.1;ECHDC1,downstream_gene_variant,,ENST00000528402,NM_001105545.1;ECHDC1,downstream_gene_variant,,ENST00000309620,;ECHDC1,downstream_gene_variant,,ENST00000368291,NM_018479.3;ECHDC1,downstream_gene_variant,,ENST00000430841,;ECHDC1,downstream_gene_variant,,ENST00000368289,;RNF146,downstream_gene_variant,,ENST00000476956,;RNF146,downstream_gene_variant,,ENST00000480444,;ECHDC1,downstream_gene_variant,,ENST00000436638,;RNF146,downstream_gene_variant,,ENST00000477776,;RNF146,downstream_gene_variant,,ENST00000609447,;RNF146,downstream_gene_variant,,ENST00000610162,;RNF146,downstream_gene_variant,,ENST00000609944,;ECHDC1,downstream_gene_variant,,ENST00000460558,;RNF146,downstream_gene_variant,,ENST00000489534,;RNF146,downstream_gene_variant,,ENST00000608340,;ECHDC1,downstream_gene_variant,,ENST00000488087,;ECHDC1,downstream_gene_variant,,ENST00000368295,;ECHDC1,downstream_gene_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000479525,;ECHDC1,downstream_gene_variant,,ENST00000368292,;ECHDC1,downstream_gene_variant,,ENST00000417628,;							MODERATE	521/1080	P174Q	RN146_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000357297		CCDS56449.1			1	
CEP250	0	LGGM	GRCh37	20	34064280	34064280	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	31	3	.	.	ENST00000397527.1:c.1723C>A	p.Gln575Lys	p.Q575K	ENST00000397527	NM_007186.3	575	Cag/Aag	0	1	1	UPI000006FE8F	0	NA	ENST00000397527		ENSG00000126001	1859		34	0.6		HGNC	p.S526R		CEP250		SNV							ENST00000461386	protein_coding	getma.org/?cm=var&var=hg19,20,34064280,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1		Q/K		A	neutral	2443/8398		getma.org/?cm=msa&ty=f&p=CP250_HUMAN&rb=531&re=609&var=Q575K		Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN			YES	CEP250,missense_variant,p.Gln575Lys,ENST00000397527,NM_007186.3;CEP250,missense_variant,p.Gln575Lys,ENST00000342580,;CEP250,missense_variant,p.Gln574Lys,ENST00000425934,;CEP250,missense_variant,p.Gln89Lys,ENST00000425096,;RP3-477O4.14,non_coding_transcript_exon_variant,,ENST00000453914,;RP3-477O4.14,non_coding_transcript_exon_variant,,ENST00000416260,;RP3-477O4.14,non_coding_transcript_exon_variant,,ENST00000444933,;CEP250,missense_variant,p.Ser526Arg,ENST00000461386,;CEP250,downstream_gene_variant,,ENST00000474829,;							MODERATE	1723/7329	Q575K	CP250_HUMAN			Transcript		benign(0.292)	.	ENSP00000380661		CCDS13255.1			1	
KRT3	0	LGGM	GRCh37	12	53189709	53189709	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	35	3	.	.	ENST00000417996.2:c.118G>T	p.Gly40Ter	p.G40*	ENST00000417996	NM_057088.2	40	Gga/Tga	0	1	1	UPI000013EEC8	0	NA	ENST00000417996		ENSG00000186442	6440		38	0		HGNC	p.G40X		KRT3		SNV			1				ENST00000309505	protein_coding	getma.org/?cm=var&var=hg19,12,53189709,C,A&fts=all		Low_complexity_(Seg):seg		G/*		A	NA	193/2319		NA					YES	KRT3,stop_gained,p.Gly40Ter,ENST00000417996,NM_057088.2;KRT3,stop_gained,p.Gly40Ter,ENST00000309505,;							HIGH	118/1887	G40*	K2C3_HUMAN			Transcript			.	ENSP00000413479		CCDS44895.1			1	
TIGD4	0	LGGM	GRCh37	4	153690910	153690910	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	28	3	.	.	ENST00000304337.2:c.1247C>G	p.Ser416Cys	p.S416C	ENST00000304337	NM_145720.3	416	tCt/tGt	0	1	1	UPI000013E966	0	NA	ENST00000304337		ENSG00000169989	18335		31	0.895		HGNC	p.S416C		TIGD4		SNV							ENST00000304337	protein_coding	getma.org/?cm=var&var=hg19,4,153690910,G,C&fts=all		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF204		S/C		C	low	2068/2472		getma.org/?cm=msa&ty=f&p=TIGD4_HUMAN&rb=376&re=512&var=S416C	deleterious(0.02)				YES	TIGD4,missense_variant,p.Ser416Cys,ENST00000304337,NM_145720.3;							MODERATE	1247/1539	S416C	TIGD4_HUMAN			Transcript		benign(0.124)	.	ENSP00000355162		CCDS34079.1			1	
ZIC2	0	LGGM	GRCh37	13	100637672	100637672	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	15	3	.	.	ENST00000376335.3:c.1335C>T	p.Ala445=	p.A445=	ENST00000376335	NM_007129.3	445	gcC/gcT	0	1	1	UPI000013C3DC	0		ENST00000376335		ENSG00000043355	12873		18			HGNC	p.A445A		ZIC2		SNV			1				ENST00000376335	protein_coding			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27		A		T		1628/2974							YES	ZIC2,synonymous_variant,p.=,ENST00000376335,NM_007129.3;ZIC2,non_coding_transcript_exon_variant,,ENST00000477213,;ZIC2,non_coding_transcript_exon_variant,,ENST00000490085,;ZIC2,non_coding_transcript_exon_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000481565,;							LOW	1335/1599		ZIC2_HUMAN			Transcript			.	ENSP00000365514		CCDS9495.1			1	
SPNS1	0	LGGM	GRCh37	16	28993754	28993754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	33	3	.	.	ENST00000311008.11:c.1043G>A	p.Arg348His	p.R348H	ENST00000311008	NM_032038.2	348	cGc/cAc	0	1	1	UPI000004DB99	0	NA	ENST00000311008		ENSG00000169682	30621		36	2.525		HGNC	p.R348H	rs562995000,COSM969602	SPNS1	6.20E-05	SNV						0,1	ENST00000311008	protein_coding	getma.org/?cm=var&var=hg19,16,28993754,G,A&fts=all	A:0	Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24001,hmmpanther:PTHR24001:SF3,Superfamily_domains:SSF103473		R/H		A	medium	1420/2208	3.01E-05	getma.org/?cm=msa&ty=f&p=SPNS1_HUMAN&rb=65&re=435&var=R348H	deleterious(0.02)	H3BT44_HUMAN,H3BP14_HUMAN	A:0	A:0	YES	SPNS1,missense_variant,p.Arg348His,ENST00000311008,NM_032038.2;SPNS1,missense_variant,p.Arg275His,ENST00000323081,NM_001142450.1;SPNS1,missense_variant,p.Arg296His,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Arg393His,ENST00000565975,NM_001142448.1;SPNS1,missense_variant,p.Arg274His,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Arg342His,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,;LAT,upstream_gene_variant,,ENST00000354453,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000570232,;RP11-264B17.4,upstream_gene_variant,,ENST00000567209,;LAT,upstream_gene_variant,,ENST00000563964,;SPNS1,downstream_gene_variant,,ENST00000561868,;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,;		A:0.0002			0,1		MODERATE	1043/1587	R348H	SPNS1_HUMAN		A:0	Transcript		benign(0.26)	.	ENSP00000309945	2.47E-05	CCDS10646.1		A:0.001	1	
IRF2	0	LGGM	GRCh37	4	185339723	185339723	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	25	4	.	.	ENST00000393593.3:c.327C>A	p.Tyr109Ter	p.Y109*	ENST00000393593	NM_002199.3	109	taC/taA	0	1	1	UPI000012D888	0	NA	ENST00000393593		ENSG00000168310	6117		29	0		HGNC	p.Y109X		IRF2		SNV							ENST00000505316	protein_coding	getma.org/?cm=var&var=hg19,4,185339723,G,T&fts=all		Superfamily_domains:SSF46785,PIRSF_domain:PIRSF038196,SMART_domains:SM00348,Gene3D:1.10.10.10,Pfam_domain:PF00605,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22,PROSITE_profiles:PS51507		Y/*		T	NA	535/2303		NA		K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN			YES	IRF2,stop_gained,p.Tyr109Ter,ENST00000393593,NM_002199.3;IRF2,stop_gained,p.Tyr109Ter,ENST00000507523,;IRF2,stop_gained,p.Tyr8Ter,ENST00000505067,;IRF2,stop_gained,p.Tyr109Ter,ENST00000510814,;IRF2,stop_gained,p.Tyr109Ter,ENST00000506230,;IRF2,stop_gained,p.Tyr21Ter,ENST00000502750,;IRF2,non_coding_transcript_exon_variant,,ENST00000512020,;IRF2,3_prime_UTR_variant,,ENST00000509274,;							HIGH	327/1050	Y109*	IRF2_HUMAN			Transcript			.	ENSP00000377218		CCDS3835.1			1	
CHRM2	0	LGGM	GRCh37	7	136700087	136700087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	22	4	.	.	ENST00000445907.2:c.475A>G	p.Ile159Val	p.I159V	ENST00000445907	NM_001006627.1	159	Att/Gtt	0	1		UPI0000050410	0	getma.org/pdb.php?prot=ACM2_HUMAN&from=40&to=440&var=I159V	ENST00000320658		ENSG00000181072	1951		26	2.005		HGNC	p.I159V		CHRM2		SNV			1				ENST00000401861	protein_coding	getma.org/?cm=var&var=hg19,7,136700087,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/V		G	medium	768/1694		getma.org/?cm=msa&ty=f&p=ACM2_HUMAN&rb=40&re=440&var=I159V	deleterious(0)	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN				CHRM2,missense_variant,p.Ile159Val,ENST00000445907,NM_001006627.1,NM_001006629.1;CHRM2,missense_variant,p.Ile159Val,ENST00000401861,NM_001006626.1;CHRM2,missense_variant,p.Ile159Val,ENST00000397608,NM_000739.2,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Ile159Val,ENST00000402486,NM_001006631.1,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Ile159Val,ENST00000453373,;CHRM2,missense_variant,p.Ile159Val,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,;							MODERATE	475/1401	I159V	ACM2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000319984		CCDS5843.1			1	
GPR173	0	LGGM	GRCh37	X	53106054	53106054	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	9	5	.	.	ENST00000332582.4:c.251G>A	p.Arg84His	p.R84H	ENST00000332582	NM_018969.5	84	cGc/cAc	0	1	1	UPI0000050480	0	getma.org/pdb.php?prot=GP173_HUMAN&from=39&to=339&var=R84H	ENST00000332582		ENSG00000184194	18186		14	0.69		HGNC	p.R84H	rs782813162	GPR173	0.000198	SNV							ENST00000332582	protein_coding	getma.org/?cm=var&var=hg19,X,53106054,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR19268:SF4,hmmpanther:PTHR19268,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		R/H		A	neutral	742/4485	2.10E-05	getma.org/?cm=msa&ty=f&p=GP173_HUMAN&rb=39&re=339&var=R84H	tolerated(0.28)	J3KPD1_HUMAN			YES	GPR173,missense_variant,p.Arg84His,ENST00000332582,NM_018969.5;GPR173,downstream_gene_variant,,ENST00000375466,;							MODERATE	251/1122	R84H	GP173_HUMAN			Transcript		benign(0.022)	.	ENSP00000331600	4.12E-05	CCDS14349.1			1	
SLC43A1	0	LGGM	GRCh37	11	57268678	57268678	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	16	5	.	.	ENST00000278426.3:c.279A>T	p.Pro93=	p.P93=	ENST00000278426	NM_003627.5	93	ccA/ccT	0	1	1	UPI0000071F2B	0		ENST00000278426		ENSG00000149150	9225		21			HGNC	p.P93P		SLC43A1		SNV							ENST00000533263	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF0,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		P		A		635/2598				E9PJT8_HUMAN,B3KNL1_HUMAN			YES	SLC43A1,synonymous_variant,p.=,ENST00000278426,NM_003627.5;SLC43A1,synonymous_variant,p.=,ENST00000528450,NM_001198810.1;SLC43A1,synonymous_variant,p.=,ENST00000533066,;SLC43A1,synonymous_variant,p.=,ENST00000533263,;SLC43A1,synonymous_variant,p.=,ENST00000525764,;SLC43A1,upstream_gene_variant,,ENST00000533515,;SLC43A1,synonymous_variant,p.=,ENST00000534298,;SLC43A1,synonymous_variant,p.=,ENST00000530159,;SLC43A1,3_prime_UTR_variant,,ENST00000524995,;SLC43A1,3_prime_UTR_variant,,ENST00000534105,;							LOW	279/1680		LAT3_HUMAN			Transcript			.	ENSP00000278426		CCDS7958.1			1	
EP300	0	LGGM	GRCh37	22	41574714	41574714	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	28	5	.	.	ENST00000263253.7:c.6999T>A	p.Pro2333=	p.P2333=	ENST00000263253	NM_001429.3	2333	ccT/ccA	0	1	1	UPI00001AE876	0		ENST00000263253		ENSG00000100393	3373		33			HGNC	p.P2333P		EP300		SNV			1				ENST00000263253	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4		P		A		8218/9585				B5A250_HUMAN			YES	EP300,synonymous_variant,p.=,ENST00000263253,NM_001429.3;RP1-85F18.5,intron_variant,,ENST00000420537,;RP1-85F18.6,intron_variant,,ENST00000415054,;							LOW	6999/7245		EP300_HUMAN			Transcript			.	ENSP00000263253		CCDS14010.1			1	
OR14I1	0	LGGM	GRCh37	1	248845307	248845307	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	20	5	.	.	ENST00000342623.3:c.299A>G	p.Tyr100Cys	p.Y100C	ENST00000342623	NM_001004734.1	100	tAt/tGt	0	1	1	UPI0000199BC9	0	getma.org/pdb.php?prot=O14I1_HUMAN&from=1&to=137&var=Y100C	ENST00000342623		ENSG00000189181	19575		25	1.25		HGNC	p.Y100C		OR14I1		SNV							ENST00000342623	protein_coding	getma.org/?cm=var&var=hg19,1,248845307,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF68,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		Y/C		C	low	323/1002		getma.org/?cm=msa&ty=f&p=O14I1_HUMAN&rb=1&re=137&var=Y100C	deleterious(0.01)				YES	OR14I1,missense_variant,p.Tyr100Cys,ENST00000342623,NM_001004734.1;							MODERATE	299/936	Y100C	O14I1_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000339726		CCDS31125.1			1	
SPICE1	0	LGGM	GRCh37	3	113212070	113212070	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	23	5	.	.	ENST00000295872.4:c.475T>G	p.Ser159Ala	p.S159A	ENST00000295872	NM_144718.3	159	Tct/Gct	0	1	1	UPI000007328D	0	NA	ENST00000295872		ENSG00000163611	25083		28	2.33		HGNC	p.S159A		SPICE1		SNV							ENST00000495812	protein_coding	getma.org/?cm=var&var=hg19,3,113212070,A,C&fts=all		hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2		S/A		C	medium	735/5417		getma.org/?cm=msa&ty=f&p=SPICE_HUMAN&rb=1&re=397&var=S159A	tolerated(0.05)	C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN			YES	SPICE1,missense_variant,p.Ser159Ala,ENST00000295872,NM_144718.3;SPICE1,missense_variant,p.Ser159Ala,ENST00000480527,;SPICE1,missense_variant,p.Ser159Ala,ENST00000495812,;SPICE1,upstream_gene_variant,,ENST00000467618,;SPICE1,non_coding_transcript_exon_variant,,ENST00000496105,;							MODERATE	475/2568	S159A	SPICE_HUMAN			Transcript		benign(0.035)	.	ENSP00000295872		CCDS2973.1			1	
TDRD1	0	LGGM	GRCh37	10	115980578	115980578	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	18	5	.	.	ENST00000251864.2:c.2746C>A	p.Gln916Lys	p.Q916K	ENST00000251864	NM_198795.1	916	Caa/Aaa	0	1	1	UPI00001F9753	0	NA	ENST00000251864		ENSG00000095627	11712		23	1.735		HGNC	p.Q802K		TDRD1		SNV							ENST00000369281	protein_coding	getma.org/?cm=var&var=hg19,10,115980578,C,A&fts=all		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4		Q/K		A	low	2899/4510		getma.org/?cm=msa&ty=f&p=TDRD1_HUMAN&rb=833&re=935&var=Q916K	tolerated(0.2)				YES	TDRD1,missense_variant,p.Gln916Lys,ENST00000251864,NM_198795.1;TDRD1,missense_variant,p.Gln802Lys,ENST00000369281,;TDRD1,missense_variant,p.Gln916Lys,ENST00000369280,;TDRD1,missense_variant,p.Gln520Lys,ENST00000422662,;TDRD1,missense_variant,p.Gln916Lys,ENST00000369282,;							MODERATE	2746/3570	Q916K	TDRD1_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000251864		CCDS7588.1			1	
WDR60	0	LGGM	GRCh37	7	158669383	158669383	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	56	6	.	.	ENST00000407559.3:c.573+1G>T		p.X191_splice	ENST00000407559	NM_018051.4			0	1	1	UPI000020E761	0		ENST00000407559		ENSG00000126870	21862		62			HGNC	-		WDR60		SNV			1				ENST00000407559	protein_coding							T		-/3769				H7C1E8_HUMAN,A4D230_HUMAN			YES	WDR60,splice_donor_variant,,ENST00000407559,NM_018051.4;WDR60,upstream_gene_variant,,ENST00000444851,;							HIGH	573/3201		WDR60_HUMAN			Transcript			.	ENSP00000384290		CCDS47757.1			1	
FAM83B	0	LGGM	GRCh37	6	54805304	54805304	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	35	6	.	.	ENST00000306858.7:c.1535A>G	p.Asn512Ser	p.N512S	ENST00000306858	NM_001010872.2	512	aAt/aGt	0	1	1	UPI00001D81EC	0	NA	ENST00000306858		ENSG00000168143	21357		41	0.805		HGNC	p.N512S		FAM83B		SNV							ENST00000306858	protein_coding	getma.org/?cm=var&var=hg19,6,54805304,A,G&fts=all		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4		N/S		G	low	1651/3167		getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=476&re=523&var=N512S	tolerated(0.27)				YES	FAM83B,missense_variant,p.Asn512Ser,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;							MODERATE	1535/3036	N512S	FA83B_HUMAN			Transcript		benign(0.018)	.	ENSP00000304078		CCDS34479.1			1	
IRF9	0	LGGM	GRCh37	14	24633952	24633952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	22	6	.	.	ENST00000396864.3:c.779C>A	p.Pro260His	p.P260H	ENST00000396864	NM_006084.4	260	cCc/cAc	0	1	1	UPI000012D8C2	0	getma.org/pdb.php?prot=IRF9_HUMAN&from=217&to=383&var=P260H	ENST00000396864		ENSG00000213928	6131		28	2.805		HGNC	p.P158H		IRF9		SNV							ENST00000557894	protein_coding	getma.org/?cm=var&var=hg19,14,24633952,C,A&fts=all		Gene3D:2.60.200.10,Pfam_domain:PF10401,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF21,Superfamily_domains:SSF49879		P/H		A	medium	1066/1838		getma.org/?cm=msa&ty=f&p=IRF9_HUMAN&rb=217&re=383&var=P260H	deleterious(0)				YES	IRF9,missense_variant,p.Pro260His,ENST00000396864,NM_006084.4;IRF9,missense_variant,p.Pro158His,ENST00000557894,;IRF9,intron_variant,,ENST00000324076,;RNF31,downstream_gene_variant,,ENST00000324103,NM_017999.4;RNF31,downstream_gene_variant,,ENST00000559275,;RNF31,downstream_gene_variant,,ENST00000382687,;RNF31,downstream_gene_variant,,ENST00000560787,;IRF9,downstream_gene_variant,,ENST00000560275,;IRF9,downstream_gene_variant,,ENST00000559284,;RNF31,downstream_gene_variant,,ENST00000559719,;RP11-468E2.4,3_prime_UTR_variant,,ENST00000558468,;IRF9,3_prime_UTR_variant,,ENST00000561342,;IRF9,non_coding_transcript_exon_variant,,ENST00000561415,;IRF9,non_coding_transcript_exon_variant,,ENST00000560542,;IRF9,non_coding_transcript_exon_variant,,ENST00000559229,;RNF31,downstream_gene_variant,,ENST00000559071,;RNF31,downstream_gene_variant,,ENST00000491351,;RNF31,downstream_gene_variant,,ENST00000559449,;IRF9,downstream_gene_variant,,ENST00000560852,;RNF31,downstream_gene_variant,,ENST00000483895,;IRF9,upstream_gene_variant,,ENST00000560311,;IRF9,downstream_gene_variant,,ENST00000560365,;IRF9,downstream_gene_variant,,ENST00000561412,;IRF9,downstream_gene_variant,,ENST00000559863,;IRF9,downstream_gene_variant,,ENST00000561009,;RNF31,downstream_gene_variant,,ENST00000559491,;RNF31,downstream_gene_variant,,ENST00000560631,;							MODERATE	779/1182	P260H	IRF9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380073		CCDS9615.1			1	
NAE1	0	LGGM	GRCh37	16	66847465	66847465	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	16	7	.	.	ENST00000290810.3:c.1034+2T>C		p.X345_splice	ENST00000290810				0	1	1	UPI000006EBDC	0		ENST00000290810		ENSG00000159593	621		23			HGNC	-		NAE1		SNV							ENST00000290810	protein_coding							G		-/1837				J3QRA5_HUMAN,A8MU28_HUMAN			YES	NAE1,splice_donor_variant,,ENST00000379463,NM_001018159.1;NAE1,splice_donor_variant,,ENST00000290810,;NAE1,splice_donor_variant,,ENST00000359087,NM_003905.3,NM_001286500.1;NAE1,splice_donor_variant,,ENST00000394074,NM_001018160.1;NAE1,downstream_gene_variant,,ENST00000561579,;NAE1,upstream_gene_variant,,ENST00000566663,;NAE1,downstream_gene_variant,,ENST00000563185,;NAE1,non_coding_transcript_exon_variant,,ENST00000567521,;NAE1,downstream_gene_variant,,ENST00000567743,;NAE1,upstream_gene_variant,,ENST00000562074,;NAE1,downstream_gene_variant,,ENST00000563253,;							HIGH	1034/1605		ULA1_HUMAN			Transcript			.	ENSP00000290810		CCDS10820.1			1	
TMEM150B	0	LGGM	GRCh37	19	55831530	55831530	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	37	8	.	.	ENST00000326652.4:c.201G>T	p.Ala67=	p.A67=	ENST00000326652	NM_001282011.1	67	gcG/gcT	0	1	1	UPI00001AF4D4	0		ENST00000326652		ENSG00000180061	34415		45			HGNC	p.V45L		TMEM150B		SNV							ENST00000586609	protein_coding			Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3,Transmembrane_helices:TMhelix		A		A		384/943				K7EM00_HUMAN,K7EKL2_HUMAN			YES	TMEM150B,synonymous_variant,p.=,ENST00000326652,NM_001282011.1;TMEM150B,synonymous_variant,p.=,ENST00000438693,NM_001085488.1;TMEM150B,synonymous_variant,p.=,ENST00000591570,;TMEM150B,synonymous_variant,p.=,ENST00000585918,;TMEM150B,missense_variant,p.Val45Leu,ENST00000586609,;TMEM150B,missense_variant,p.Val45Leu,ENST00000592603,;TMEM150B,non_coding_transcript_exon_variant,,ENST00000592891,;TMEM150B,intron_variant,,ENST00000592731,;							LOW	201/702		T150B_HUMAN			Transcript			.	ENSP00000320757		CCDS42629.1			1	
ADAM23	0	LGGM	GRCh37	2	207413003	207413003	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	19	9	.	.	ENST00000264377.3:c.794-2A>G		p.X265_splice	ENST00000264377	NM_003812.3			0	1	1	UPI0000044543	0		ENST00000264377		ENSG00000114948	202		28			HGNC	-		ADAM23		SNV							ENST00000264377	protein_coding							G		-/6327				Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN			YES	ADAM23,splice_acceptor_variant,,ENST00000264377,NM_003812.3;ADAM23,splice_acceptor_variant,,ENST00000374416,;ADAM23,splice_acceptor_variant,,ENST00000374415,;							HIGH	794/2499		ADA23_HUMAN			Transcript			.	ENSP00000264377		CCDS2369.1			1	
LINC00955	0	LGGM	GRCh37	4	3590762	3590762	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	66	9	.	.	ENST00000514422.1:c.247A>G	p.Asn83Asp	p.N83D	ENST00000514422		83	Aat/Gat	0	1	1	UPI0000160C3E	0		ENST00000514422		ENSG00000216560	26644		75			HGNC	p.N83D		LINC00955		SNV							ENST00000404649	protein_coding					N/D		G		533/1502			deleterious_low_confidence(0)	E7ETJ0_HUMAN			YES	LINC00955,missense_variant,p.Asn83Asp,ENST00000514422,;LINC00955,intron_variant,,ENST00000502775,;							MODERATE	247/585					Transcript		possibly_damaging(0.497)	.	ENSP00000427553					1	
NWD1	0	LGGM	GRCh37	19	16926025	16926025	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	30	9	.	.	ENST00000524140.2:c.*175G>A		*59*	ENST00000524140	NM_001007525.3			0	1		UPI0001AE63B7	0		ENST00000552788		ENSG00000188039	27619		39			HGNC	p.R1485K		NWD1		SNV							ENST00000549814	protein_coding					R/K		A		4580/6964			tolerated(0.07)	E9PBV1_HUMAN				NWD1,missense_variant,p.Arg1527Lys,ENST00000552788,;NWD1,missense_variant,p.Arg1485Lys,ENST00000549814,;NWD1,missense_variant,p.Arg1321Lys,ENST00000523826,;NWD1,missense_variant,p.Arg1392Lys,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000524140,NM_001007525.3;NWD1,3_prime_UTR_variant,,ENST00000379808,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							MODERATE	4580/4695		NWD1_HUMAN			Transcript		benign(0.206)	.	ENSP00000447224					1	
MLKL	0	LGGM	GRCh37	16	74716615	74716615	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	28	9	.	.	ENST00000308807.7:c.890G>A	p.Arg297Lys	p.R297K	ENST00000308807	NM_152649.2	297	aGg/aAg	0	1	1	UPI000004073C	0	getma.org/pdb.php?prot=MLKL_HUMAN&from=209&to=466&var=R297K	ENST00000308807		ENSG00000168404	26617		37	0.05		HGNC	p.R297K		MLKL		SNV							ENST00000308807	protein_coding	getma.org/?cm=var&var=hg19,16,74716615,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF347,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112		R/K		T	neutral	1354/2523		getma.org/?cm=msa&ty=f&p=MLKL_HUMAN&rb=209&re=466&var=R297K	tolerated(1)	I3L4Z5_HUMAN,I3L2T9_HUMAN			YES	MLKL,missense_variant,p.Arg297Lys,ENST00000308807,NM_152649.2;MLKL,intron_variant,,ENST00000306247,NM_001142497.1;MLKL,upstream_gene_variant,,ENST00000576529,;MLKL,missense_variant,p.Arg121Lys,ENST00000571303,;MLKL,upstream_gene_variant,,ENST00000570846,;							MODERATE	890/1416	R297K	MLKL_HUMAN			Transcript		benign(0.01)	.	ENSP00000308351		CCDS32487.1			1	
FADS3	0	LGGM	GRCh37	11	61646008	61646008	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	26	9	.	.	ENST00000278829.2:c.723C>T	p.Phe241=	p.F241=	ENST00000278829	NM_021727.3	241	ttC/ttT	0	1	1	UPI000003405F	0		ENST00000278829		ENSG00000221968	3576		35			HGNC	p.F241F		FADS3		SNV							ENST00000540820	protein_coding			Pfam_domain:PF00487,PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF11		F		A		876/1779				E9PQC2_HUMAN,E9PPZ4_HUMAN			YES	FADS3,synonymous_variant,p.=,ENST00000540820,;FADS3,synonymous_variant,p.=,ENST00000278829,NM_021727.3;FADS3,synonymous_variant,p.=,ENST00000527697,;FADS3,synonymous_variant,p.=,ENST00000525588,;FADS3,synonymous_variant,p.=,ENST00000531956,;FADS3,synonymous_variant,p.=,ENST00000534223,;FADS3,synonymous_variant,p.=,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,;							LOW	723/1338		FADS3_HUMAN			Transcript			.	ENSP00000278829		CCDS8013.1			1	
HDAC3	0	LGGM	GRCh37	5	141016357	141016357	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	58	9	.	.	ENST00000305264.3:c.1A>G	p.Met1?	p.M1?	ENST00000305264	NM_003883.3	1	Atg/Gtg	0	1	1	UPI000003552A	0	NA	ENST00000305264		ENSG00000171720	4854		67	0		HGNC	p.M1V		HDAC3		SNV							ENST00000523088	protein_coding	getma.org/?cm=var&var=hg19,5,141016357,T,C&fts=all		PIRSF_domain:PIRSF037913		M/V		C	NA	81/1959		http://getma.org/?cm=msa&ty=f&p=HDAC3_HUMAN&rb=1&re=38&var=M1V	tolerated_low_confidence(0.65)	Q9H368_HUMAN,B5MGH4_HUMAN			YES	HDAC3,start_lost,p.Met1?,ENST00000305264,NM_003883.3;HDAC3,start_lost,p.Met1?,ENST00000523088,;FCHSD1,downstream_gene_variant,,ENST00000435817,NM_033449.2;FCHSD1,downstream_gene_variant,,ENST00000522126,;RELL2,upstream_gene_variant,,ENST00000297164,NM_173828.4;FCHSD1,downstream_gene_variant,,ENST00000522783,;RELL2,upstream_gene_variant,,ENST00000444782,NM_001130029.1;RELL2,upstream_gene_variant,,ENST00000521367,;RELL2,upstream_gene_variant,,ENST00000518856,;FCHSD1,downstream_gene_variant,,ENST00000523856,;RELL2,upstream_gene_variant,,ENST00000518025,;RELL2,upstream_gene_variant,,ENST00000520674,;RELL2,upstream_gene_variant,,ENST00000517794,;FCHSD1,downstream_gene_variant,,ENST00000518160,;HDAC3,start_lost,p.Met1?,ENST00000519474,;HDAC3,non_coding_transcript_exon_variant,,ENST00000492506,;HDAC3,non_coding_transcript_exon_variant,,ENST00000495485,;FCHSD1,downstream_gene_variant,,ENST00000520747,;HDAC3,upstream_gene_variant,,ENST00000469550,;HDAC3,upstream_gene_variant,,ENST00000471968,;							HIGH	1/1287	M1V	HDAC3_HUMAN			Transcript		benign(0.007)	.	ENSP00000302967		CCDS4264.1			1	
VCAN	0	LGGM	GRCh37	5	82817961	82817961	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	55	10	.	.	ENST00000265077.3:c.3836A>G	p.Tyr1279Cys	p.Y1279C	ENST00000265077	NM_004385.4	1279	tAt/tGt	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		65	2.135		HGNC	p.Y1279C		VCAN		SNV			1				ENST00000265077	protein_coding	getma.org/?cm=var&var=hg19,5,82817961,A,G&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		Y/C		G	medium	4401/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=441&re=2065&var=Y1279C	deleterious(0)				YES	VCAN,missense_variant,p.Tyr1279Cys,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Tyr1279Cys,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Tyr1231Cys,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000515397,;							MODERATE	3836/10191	Y1279C	CSPG2_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000265077		CCDS4060.1			1	
KRT6A	0	LGGM	GRCh37	12	52882330	52882330	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	16	10	.	.	ENST00000330722.6:c.1206C>T	p.Cys402=	p.C402=	ENST00000330722	NM_005554.3	402	tgC/tgT	0	1	1	UPI000013CD4C	0		ENST00000330722		ENSG00000205420	6443	0.000605	26			HGNC	p.C402C	rs768888133,COSM940748	KRT6A	6.06E-05	SNV			1	0.00077		0,1	ENST00000330722	protein_coding			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Superfamily_domains:SSF64593		C		A		1275/2310	0.000675						YES	KRT6A,splice_region_variant,p.=,ENST00000330722,NM_005554.3;KRT6A,downstream_gene_variant,,ENST00000549898,;KRT6A,downstream_gene_variant,,ENST00000549754,;KRT6A,downstream_gene_variant,,ENST00000549600,;KRT6A,downstream_gene_variant,,ENST00000548735,;					0,1		LOW	1206/1695		K2C6A_HUMAN	0.000454		Transcript			common_variant	ENSP00000369317	0.00056	CCDS41786.1			1	
ZNF81	0	LGGM	GRCh37	X	47774620	47774620	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	12	12	.	.	ENST00000376954.1:c.575G>A	p.Arg192His	p.R192H	ENST00000376954		192	cGt/cAt	0	1		UPI000023FCDA	0	getma.org/pdb.php?prot=ZNF81_HUMAN&from=62&to=261&var=R192H	ENST00000338637		ENSG00000197779	13156		24	0.28		HGNC	p.R192H		ZNF81		SNV			1				ENST00000376954	protein_coding	getma.org/?cm=var&var=hg19,X,47774620,G,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF5		R/H		A	neutral	824/7859		getma.org/?cm=msa&ty=f&p=ZNF81_HUMAN&rb=62&re=261&var=R192H	tolerated(0.54)					ZNF81,missense_variant,p.Arg192His,ENST00000376954,;ZNF81,missense_variant,p.Arg192His,ENST00000338637,NM_007137.3;ZNF81,intron_variant,,ENST00000376950,;							MODERATE	575/1986	R192H	ZNF81_HUMAN			Transcript		benign(0)	.	ENSP00000341151		CCDS43933.1			1	
LAMA2	0	LGGM	GRCh37	6	129581910	129581910	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	62	12	.	.	ENST00000421865.2:c.2151T>C	p.Ile717=	p.I717=	ENST00000421865	NM_001079823.1	717	atT/atC	0	1	1	UPI00003673E0	0		ENST00000421865		ENSG00000196569	6482		74			HGNC	p.I717I		LAMA2		SNV			1				ENST00000421865	protein_coding			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106		I		C		2200/9640				Q59H37_HUMAN			YES	LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;							LOW	2151/9369		LAMA2_HUMAN			Transcript			.	ENSP00000400365		CCDS5138.1			1	
OR8K3	0	LGGM	GRCh37	11	56086530	56086530	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	36	12	.	.	ENST00000312711.1:c.748T>C	p.Phe250Leu	p.F250L	ENST00000312711	NM_001005202.1	250	Ttc/Ctc	0	1	1	UPI0000041BE7	0	NA	ENST00000312711		ENSG00000181689	15313		48	2.315		HGNC	p.F250L	COSM138818	OR8K3		SNV						1	ENST00000312711	protein_coding	getma.org/?cm=var&var=hg19,11,56086530,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		F/L		C	medium	748/939		getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=139&re=282&var=F250L	tolerated_low_confidence(0.13)				YES	OR8K3,missense_variant,p.Phe250Leu,ENST00000312711,NM_001005202.1;					1		MODERATE	748/939	F250L	OR8K3_HUMAN			Transcript		possibly_damaging(0.47)	.	ENSP00000323555		CCDS31527.1			1	
NPHP1	0	LGGM	GRCh37	2	110917788	110917788	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	44	12	.	.	ENST00000316534.4:c.1167G>A	p.Trp389Ter	p.W389*	ENST00000316534		389	tgG/tgA	0	1		UPI00001303E4	0	NA	ENST00000393272		ENSG00000144061	7905		56	0		HGNC	p.W389X		NPHP1		SNV			1				ENST00000316534	protein_coding	getma.org/?cm=var&var=hg19,2,110917788,C,T&fts=all		hmmpanther:PTHR15176:SF1,hmmpanther:PTHR15176		W/*		T	NA	1262/2752		NA						NPHP1,stop_gained,p.Trp389Ter,ENST00000316534,;NPHP1,stop_gained,p.Trp388Ter,ENST00000393272,NM_207181.2,NM_000272.3;NPHP1,stop_gained,p.Trp333Ter,ENST00000445609,NM_001128178.1;NPHP1,stop_gained,p.Trp332Ter,ENST00000417665,;NPHP1,stop_gained,p.Trp270Ter,ENST00000355301,NM_001128179.1;NPHP1,non_coding_transcript_exon_variant,,ENST00000496524,;NPHP1,non_coding_transcript_exon_variant,,ENST00000461707,;							HIGH	1164/2199	W388*	NPHP1_HUMAN			Transcript			.	ENSP00000376953		CCDS46385.1			1	
PRKAA2	0	LGGM	GRCh37	1	57159461	57159461	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	58	13	.	.	ENST00000371244.4:c.499G>A	p.Gly167Ser	p.G167S	ENST00000371244	NM_006252.3	167	Ggt/Agt	0	1	1	UPI00001250A9	0	getma.org/pdb.php?prot=AAPK2_HUMAN&from=16&to=268&var=G167S	ENST00000371244		ENSG00000162409	9377		71	0.29		HGNC	p.G167S		PRKAA2		SNV							ENST00000371244	protein_coding	getma.org/?cm=var&var=hg19,1,57159461,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF82,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/S		A	neutral	565/9347		getma.org/?cm=msa&ty=f&p=AAPK2_HUMAN&rb=16&re=268&var=G167S	deleterious(0)				YES	PRKAA2,missense_variant,p.Gly167Ser,ENST00000371244,NM_006252.3;							MODERATE	499/1659	G167S	AAPK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360290		CCDS605.1			1	
CARD11	0	LGGM	GRCh37	7	2984115	2984115	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	35	14	.	.	ENST00000396946.4:c.415C>T	p.Gln139Ter	p.Q139*	ENST00000396946	NM_032415.4	139	Cag/Tag	0	1	1	UPI00003FED38	0	NA	ENST00000396946		ENSG00000198286	16393		49	0		HGNC	p.Q139X		CARD11		SNV			1				ENST00000396946	protein_coding	getma.org/?cm=var&var=hg19,7,2984115,G,A&fts=all		hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10		Q/*		A	NA	819/4366		NA		Q8TES3_HUMAN,E2QRC0_HUMAN			YES	CARD11,stop_gained,p.Gln139Ter,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,non_coding_transcript_exon_variant,,ENST00000423194,;							HIGH	415/3465	Q139*	CAR11_HUMAN			Transcript			.	ENSP00000380150		CCDS5336.2			1	
WDR87	0	LGGM	GRCh37	19	38376249	38376249	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	44	15	.	.	ENST00000303868.5:c.7945G>A	p.Glu2649Lys	p.E2649K	ENST00000303868	NM_031951.3	2649	Gag/Aag	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		59	0.345		HGNC	p.E2649K		WDR87		SNV							ENST00000303868	protein_coding	getma.org/?cm=var&var=hg19,19,38376249,C,T&fts=all				E/K		T	neutral	8170/8847		getma.org/?cm=msa&ty=f&p=WDR87_HUMAN&rb=2580&re=2779&var=E2649K		B4DXE9_HUMAN			YES	WDR87,missense_variant,p.Glu2688Lys,ENST00000447313,;WDR87,missense_variant,p.Glu2649Lys,ENST00000303868,NM_031951.3;							MODERATE	7945/8622	E2649K	WDR87_HUMAN			Transcript		unknown(0)	.	ENSP00000368025		CCDS46063.1			1	
PABPC3	0	LGGM	GRCh37	13	25670938	25670938	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	32	16	.	.	ENST00000281589.3:c.602A>G	p.Asp201Gly	p.D201G	ENST00000281589	NM_030979.2	201	gAc/gGc	0	1	1	UPI00001311AB	0	getma.org/pdb.php?prot=PABP3_HUMAN&from=193&to=262&var=D201G	ENST00000281589		ENSG00000151846	8556		48	1.355		HGNC	p.D201G		PABPC3		SNV							ENST00000569397	protein_coding	getma.org/?cm=var&var=hg19,13,25670938,A,G&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239,PROSITE_profiles:PS50102		D/G		G	low	639/3090		getma.org/?cm=msa&ty=f&p=PABP3_HUMAN&rb=193&re=262&var=D201G	tolerated(0.07)	Q5VX58_HUMAN,Q2VIP3_HUMAN			YES	PABPC3,missense_variant,p.Asp201Gly,ENST00000281589,NM_030979.2;							MODERATE	602/1896	D201G	PABP3_HUMAN			Transcript		benign(0.204)	.	ENSP00000281589		CCDS9311.1			1	
CLASP1	0	LGGM	GRCh37	2	122182819	122182819	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050572	H050572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	78	16	.	.	ENST00000263710.4:c.2108G>A	p.Gly703Asp	p.G703D	ENST00000263710	NM_015282.2	703	gGc/gAc	0	1	1	UPI00001A8BFF	0	NA	ENST00000263710		ENSG00000074054	17088		94	1.5		HGNC	p.G44D		CLASP1		SNV							ENST00000463621	protein_coding	getma.org/?cm=var&var=hg19,2,122182819,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567		G/D		T	low	2498/8090		getma.org/?cm=msa&ty=f&p=CLAP1_HUMAN&rb=538&re=737&var=G703D	tolerated(0.15)	C9JP76_HUMAN,C9J151_HUMAN			YES	CLASP1,missense_variant,p.Gly703Asp,ENST00000263710,NM_015282.2;CLASP1,missense_variant,p.Gly703Asp,ENST00000409078,;CLASP1,missense_variant,p.Gly703Asp,ENST00000455322,;CLASP1,missense_variant,p.Gly711Asp,ENST00000397587,NM_001142274.1,NM_001142273.1;CLASP1,missense_variant,p.Gly710Asp,ENST00000541377,NM_001207051.1;CLASP1,missense_variant,p.Gly472Asp,ENST00000541859,;CLASP1,missense_variant,p.Gly479Asp,ENST00000545861,;CLASP1,missense_variant,p.Gly44Asp,ENST00000463621,;CLASP1,missense_variant,p.Gly484Asp,ENST00000452274,;							MODERATE	2108/4617	G703D	CLAP1_HUMAN			Transcript		benign(0.158)	.	ENSP00000263710					1	
DYTN	0	LGGM	GRCh37	2	207569606	207569606	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	72	17	.	.	ENST00000452335.2:c.444T>A	p.Thr148=	p.T148=	ENST00000452335	NM_001093730.1	148	acT/acA	0	1	1	UPI0000EE0AB9	0		ENST00000452335		ENSG00000232125	23279		89			HGNC	p.T148T		DYTN		SNV							ENST00000452335	protein_coding			Superfamily_domains:SSF47473,Pfam_domain:PF09069,Gene3D:1.10.238.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237		T		T		561/2051							YES	DYTN,synonymous_variant,p.=,ENST00000452335,NM_001093730.1;Y_RNA,upstream_gene_variant,,ENST00000384589,;DYTN,non_coding_transcript_exon_variant,,ENST00000477734,;							LOW	444/1737		DYTN_HUMAN			Transcript			.	ENSP00000396593		CCDS46502.1			1	
APBB1	0	LGGM	GRCh37	11	6432309	6432309	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	59	17	.	.	ENST00000299402.6:c.269A>G	p.Asn90Ser	p.N90S	ENST00000299402		90	aAt/aGt	0	1		UPI000012510B	0	NA	ENST00000609360		ENSG00000166313	581		76	0.55		HGNC	p.N90S		APBB1		SNV							ENST00000389906	protein_coding	getma.org/?cm=var&var=hg19,11,6432309,T,C&fts=all		hmmpanther:PTHR14058:SF5,hmmpanther:PTHR14058		N/S		C	neutral	369/2642		getma.org/?cm=msa&ty=f&p=APBB1_HUMAN&rb=1&re=200&var=N90S	deleterious(0)	B7Z1L0_HUMAN				APBB1,missense_variant,p.Asn90Ser,ENST00000389906,;APBB1,missense_variant,p.Asn90Ser,ENST00000609360,NM_001164.3;APBB1,missense_variant,p.Asn90Ser,ENST00000299402,;APBB1,missense_variant,p.Asn90Ser,ENST00000311051,NM_145689.1;APBB1,intron_variant,,ENST00000532020,;APBB1,missense_variant,p.Asn90Ser,ENST00000608435,;APBB1,intron_variant,,ENST00000533407,;							MODERATE	269/2133	N90S				Transcript		possibly_damaging(0.53)	.	ENSP00000477213		CCDS66018.1			1	
GJA10	0	LGGM	GRCh37	6	90604242	90604242	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	84	17	.	.	ENST00000369352.1:c.55A>G	p.Thr19Ala	p.T19A	ENST00000369352	NM_032602.1	19	Acc/Gcc	0	1	1	UPI0000049B8F	0	getma.org/pdb.php?prot=CXA10_HUMAN&from=3&to=111&var=T19A	ENST00000369352		ENSG00000135355	16995		101	3.565		HGNC	p.T19A		GJA10		SNV							ENST00000369352	protein_coding	getma.org/?cm=var&var=hg19,6,90604242,A,G&fts=all		Gene3D:2zw3A00,Pfam_domain:PF00029,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF9		T/A		G	high	55/1652		getma.org/?cm=msa&ty=f&p=CXA10_HUMAN&rb=3&re=111&var=T19A	deleterious(0)				YES	GJA10,missense_variant,p.Thr19Ala,ENST00000369352,NM_032602.1;Y_RNA,downstream_gene_variant,,ENST00000517082,;							MODERATE	55/1632	T19A	CXA10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358358		CCDS5025.1			1	
IL17RD	0	LGGM	GRCh37	3	57132402	57132402	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	68	19	.	.	ENST00000296318.7:c.1329C>A	p.Gly443=	p.G443=	ENST00000296318	NM_017563.3	443	ggC/ggA	0	1	1	UPI0000047CC3	0		ENST00000296318		ENSG00000144730	17616		87			HGNC	p.G299G		IL17RD		SNV			1				ENST00000320057	protein_coding			Pfam_domain:PF08357,PROSITE_profiles:PS51534,hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8,Low_complexity_(Seg):seg		G		T		1418/8720				C9J6R0_HUMAN			YES	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,;							LOW	1329/2220		I17RD_HUMAN			Transcript			.	ENSP00000296318		CCDS2880.2			1	
TMPRSS7	0	LGGM	GRCh37	3	111782395	111782395	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050572	H050572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	80	28	.	.	ENST00000419127.1:c.1093T>C	p.Cys365Arg	p.C365R	ENST00000419127	NM_001042575.2	365	Tgc/Cgc	0	1		UPI0000049845	0	getma.org/pdb.php?prot=TMPS7_HUMAN&from=482&to=528&var=C491R	ENST00000452346		ENSG00000176040	30846		108	3.82		HGNC	p.C491R		TMPRSS7		SNV							ENST00000452346	protein_coding	getma.org/?cm=var&var=hg19,3,111782395,T,C&fts=all		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF17,SMART_domains:SM00192,Superfamily_domains:SSF57424		C/R		C	high	1474/2616		getma.org/?cm=msa&ty=f&p=TMPS7_HUMAN&rb=482&re=528&var=C491R	deleterious(0)					TMPRSS7,missense_variant,p.Cys491Arg,ENST00000452346,;TMPRSS7,missense_variant,p.Cys365Arg,ENST00000419127,NM_001042575.2;TMPRSS7,3_prime_UTR_variant,,ENST00000435737,;							MODERATE	1471/2532	C491R	TMPS7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000398236					1	
CTTNBP2	0	LGGM	GRCh37	7	117432305	117432305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050572	H050572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	57	37	.	.	ENST00000160373.3:c.945T>A	p.Asn315Lys	p.N315K	ENST00000160373	NM_033427.2	315	aaT/aaA	0	1	1	UPI000006E94A	0	NA	ENST00000160373		ENSG00000077063	15679		94	0.345		HGNC	p.N315K		CTTNBP2		SNV							ENST00000160373	protein_coding	getma.org/?cm=var&var=hg19,7,117432305,A,T&fts=all		hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166		N/K		T	neutral	1037/5970		getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=182&re=381&var=N315K	tolerated(0.28)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,missense_variant,p.Asn315Lys,ENST00000160373,NM_033427.2;CTTNBP2,upstream_gene_variant,,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Asn315Lys,ENST00000441556,;							MODERATE	945/4992	N315K	CTTB2_HUMAN			Transcript		benign(0.017)	.	ENSP00000160373		CCDS5774.1			1	
APOBEC3C	0	LGGM	GRCh37	22	39414378	39414378	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050572	H050572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050572N.bam, H050572T.bam	Illumina HiSeq	127	42	.	.	ENST00000361441.4:c.559G>A	p.Glu187Lys	p.E187K	ENST00000361441	NM_014508.2	187	Gag/Aag	0	1	1	UPI0000149A97	0	getma.org/pdb.php?prot=ABC3C_HUMAN&from=183&to=190&var=E187K	ENST00000361441		ENSG00000244509	17353		169	0.85		HGNC	p.E187K		APOBEC3C		SNV							ENST00000361441	protein_coding	getma.org/?cm=var&var=hg19,22,39414378,G,A&fts=all		hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF22		E/K		A	low	839/2818		getma.org/?cm=msa&ty=f&p=ABC3C_HUMAN&rb=153&re=190&var=E187K	tolerated(0.1)	Q59GY0_HUMAN			YES	APOBEC3C,missense_variant,p.Glu187Lys,ENST00000361441,NM_014508.2;APOBEC3D,intron_variant,,ENST00000381568,;APOBEC3D,upstream_gene_variant,,ENST00000216099,NM_152426.3;APOBEC3D,upstream_gene_variant,,ENST00000427494,;APOBEC3C,3_prime_UTR_variant,,ENST00000428892,;							MODERATE	559/573	E187K	ABC3C_HUMAN			Transcript		benign(0.037)	.	ENSP00000355340		CCDS13983.1			1	
TDRD5	0	LGGM	GRCh37	1	179631422	179631422	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	8	2	.	.	ENST00000444136.1:c.2505+1G>T		p.X835_splice	ENST00000444136	NM_001199089.1			0	1		UPI00001C0E0A	0		ENST00000294848		ENSG00000162782	20614		10			HGNC	-	COSM4025618,COSM4025617	TDRD5		SNV						1,1	ENST00000367614	protein_coding							T		-/3525								TDRD5,splice_donor_variant,,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,splice_donor_variant,,ENST00000367614,NM_001199091.1;TDRD5,splice_donor_variant,,ENST00000294848,NM_173533.3,NM_001199092.1;TDRD5,splice_donor_variant,,ENST00000417329,;					1,1		HIGH	2343/2946		TDRD5_HUMAN			Transcript			.	ENSP00000294848		CCDS1332.1			1	
SPIN2A	0	LGGM	GRCh37	X	57162400	57162400	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	11	2	.	.	ENST00000374908.1:c.631G>T	p.Gly211Cys	p.G211C	ENST00000374908		211	Ggt/Tgt	0	1		UPI00001AF13F	0	getma.org/pdb.php?prot=SPI2A_HUMAN&from=210&to=255&var=G211C	ENST00000374906		ENSG00000147059	20694		13	2.545		HGNC	p.G211C		SPIN2A		SNV							ENST00000374906	protein_coding	getma.org/?cm=var&var=hg19,X,57162400,C,A&fts=all		Pfam_domain:PF02513,hmmpanther:PTHR10405,hmmpanther:PTHR10405:SF17		G/C		A	medium	1002/1319		getma.org/?cm=msa&ty=f&p=SPI2A_HUMAN&rb=210&re=255&var=G211C	deleterious(0)					SPIN2A,missense_variant,p.Gly211Cys,ENST00000374908,;SPIN2A,missense_variant,p.Gly211Cys,ENST00000374906,NM_019003.3;							MODERATE	631/777	G211C	SPI2A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364041		CCDS35312.1			1	
NEK9	0	LGGM	GRCh37	14	75572678	75572678	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	14	2	.	.	ENST00000238616.5:c.1550A>C	p.Glu517Ala	p.E517A	ENST00000238616	NM_033116.4	517	gAa/gCa	0	1	1	UPI00001FD89B	0	getma.org/pdb.php?prot=NEK9_HUMAN&from=499&to=547&var=E517A	ENST00000238616		ENSG00000119638	18591		16	1.25		HGNC	p.E517A		NEK9		SNV							ENST00000238616	protein_coding	getma.org/?cm=var&var=hg19,14,75572678,T,G&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,Superfamily_domains:SSF50985		E/A		G	low	1709/5544		getma.org/?cm=msa&ty=f&p=NEK9_HUMAN&rb=499&re=547&var=E517A	deleterious(0.02)	G3V5V0_HUMAN,G3V2Z5_HUMAN			YES	NEK9,missense_variant,p.Glu517Ala,ENST00000238616,NM_033116.4;NEK9,non_coding_transcript_exon_variant,,ENST00000557026,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,upstream_gene_variant,,ENST00000555537,;							MODERATE	1550/2940	E517A	NEK9_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000238616		CCDS9839.1			1	
LACTB2	0	LGGM	GRCh37	8	71550124	71550124	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	11	2	.	.	ENST00000276590.4:c.838C>G	p.Pro280Ala	p.P280A	ENST00000276590	NM_016027.2	280	Cct/Gct	0	1	1	UPI00000382DA	0	getma.org/pdb.php?prot=LACB2_HUMAN&from=200&to=288&var=P280A	ENST00000276590		ENSG00000147592	18512		13	1.775		HGNC	p.P280A		LACTB2		SNV							ENST00000276590	protein_coding	getma.org/?cm=var&var=hg19,8,71550124,G,C&fts=all		hmmpanther:PTHR23131:SF0,hmmpanther:PTHR23131		P/A		C	low	875/1508		getma.org/?cm=msa&ty=f&p=LACB2_HUMAN&rb=200&re=288&var=P280A	tolerated(0.09)				YES	LACTB2,missense_variant,p.Pro280Ala,ENST00000276590,NM_016027.2;LACTB2,missense_variant,p.Pro280Ala,ENST00000522447,;RP11-382J12.1,intron_variant,,ENST00000499227,;RP11-382J12.1,intron_variant,,ENST00000518553,;RP11-382J12.1,intron_variant,,ENST00000519167,;RP11-382J12.1,intron_variant,,ENST00000518152,;LACTB2,downstream_gene_variant,,ENST00000517601,;LACTB2,downstream_gene_variant,,ENST00000522558,;							MODERATE	838/867	P280A	LACB2_HUMAN			Transcript		benign(0.159)	.	ENSP00000276590		CCDS6208.1			1	
MEGF6	0	LGGM	GRCh37	1	3519093	3519093	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	1	2	.	.	ENST00000356575.4:c.203A>G	p.His68Arg	p.H68R	ENST00000356575	NM_001409.3	68	cAc/cGc	0	1	1	UPI0000DACACB	0	NA	ENST00000356575		ENSG00000162591	3232		3	-2.28		HGNC	p.H68R		MEGF6		SNV							ENST00000356575	protein_coding	getma.org/?cm=var&var=hg19,1,3519093,T,C&fts=all		PROSITE_profiles:PS51041		H/R		C	neutral	430/5455		getma.org/?cm=msa&ty=f&p=MEGF6_HUMAN&rb=44&re=125&var=H68R	tolerated(1)				YES	MEGF6,missense_variant,p.His68Arg,ENST00000356575,NM_001409.3;MEGF6,missense_variant,p.His68Arg,ENST00000485002,;							MODERATE	203/4626	H68R	MEGF6_HUMAN			Transcript		benign(0)	.	ENSP00000348982		CCDS41237.1			1	
DLGAP5	0	LGGM	GRCh37	14	55617539	55617539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	8	2	.	.	ENST00000247191.2:c.2396C>A	p.Thr799Asn	p.T799N	ENST00000247191	NM_014750.4	799	aCt/aAt	0	1	1	UPI000013CC13	0	NA	ENST00000247191		ENSG00000126787	16864		10	0.805		HGNC	p.T799N		DLGAP5		SNV							ENST00000395425	protein_coding	getma.org/?cm=var&var=hg19,14,55617539,G,T&fts=all				T/N		T	low	2613/2973		getma.org/?cm=msa&ty=f&p=DLGP5_HUMAN&rb=605&re=804&var=T799N	deleterious(0.02)	G3V543_HUMAN,G3V4E5_HUMAN			YES	DLGAP5,missense_variant,p.Thr799Asn,ENST00000247191,NM_014750.4;DLGAP5,missense_variant,p.Thr799Asn,ENST00000395425,NM_001146015.1;DLGAP5,non_coding_transcript_exon_variant,,ENST00000554007,;							MODERATE	2396/2541	T799N	DLGP5_HUMAN			Transcript		benign(0.235)	.	ENSP00000247191		CCDS9723.1			1	
SSTR5	0	LGGM	GRCh37	16	1129802	1129802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	11	2	.	.	ENST00000293897.4:c.934C>A	p.Arg312Ser	p.R312S	ENST00000293897	NM_001053.3	312	Cgc/Agc	0	1	1	UPI00000015DC	0	NA	ENST00000293897		ENSG00000162009	11334		13	2.36		HGNC	p.R312S		SSTR5		SNV							ENST00000293897	protein_coding	getma.org/?cm=var&var=hg19,16,1129802,C,A&fts=all		hmmpanther:PTHR24229:SF20,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00246,Prints_domain:PR00237		R/S		A	medium	1022/2674		getma.org/?cm=msa&ty=f&p=SSR5_HUMAN&rb=305&re=364&var=R312S	deleterious(0)				YES	SSTR5,missense_variant,p.Arg312Ser,ENST00000293897,NM_001053.3;SSTR5,missense_variant,p.Arg312Ser,ENST00000397547,NM_001172560.1;SSTR5,intron_variant,,ENST00000562758,;SSTR5-AS1,upstream_gene_variant,,ENST00000569832,;SSTR5-AS1,upstream_gene_variant,,ENST00000566499,;							MODERATE	934/1095	R312S	SSR5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000293897		CCDS10429.1			1	
SERPINE1	0	LGGM	GRCh37	7	100779083	100779083	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	37	3	.	.	ENST00000223095.4:c.1087+1G>T		p.X363_splice	ENST00000223095	NM_000602.4			0	1	1	UPI0000000CAB	0		ENST00000223095		ENSG00000106366	8583		40			HGNC	-		SERPINE1		SNV			1				ENST00000223095	protein_coding							T		-/3190				B7ZAB0_HUMAN,B7Z1D9_HUMAN			YES	SERPINE1,splice_donor_variant,,ENST00000223095,NM_000602.4;SERPINE1,splice_donor_variant,,ENST00000445463,;							HIGH	1087/1209		PAI1_HUMAN			Transcript			.	ENSP00000223095		CCDS5711.1			1	
CALCOCO1	0	LGGM	GRCh37	12	54115831	54115831	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	22	3	.	.	ENST00000550804.1:c.587C>G	p.Thr196Arg	p.T196R	ENST00000550804		196	aCg/aGg	0	1	1	UPI0000037D7A	0	NA	ENST00000550804		ENSG00000012822	29306		25	-0.115		HGNC	p.T134R		CALCOCO1		SNV							ENST00000413257	protein_coding	getma.org/?cm=var&var=hg19,12,54115831,G,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF5		T/R		C	neutral	648/2291		getma.org/?cm=msa&ty=f&p=CACO1_HUMAN&rb=9&re=596&var=T196R	tolerated(0.54)	F8W0X2_HUMAN,F8VZI3_HUMAN,F8VWP8_HUMAN,F8VUB3_HUMAN,F8VRQ9_HUMAN,F8VQE3_HUMAN,F8VPN1_HUMAN			YES	CALCOCO1,missense_variant,p.Thr196Arg,ENST00000548263,;CALCOCO1,missense_variant,p.Thr196Arg,ENST00000262059,NM_020898.2;CALCOCO1,missense_variant,p.Thr163Arg,ENST00000430117,NM_001143682.1;CALCOCO1,missense_variant,p.Thr196Arg,ENST00000550804,;CALCOCO1,downstream_gene_variant,,ENST00000549784,;CALCOCO1,downstream_gene_variant,,ENST00000549349,;CALCOCO1,downstream_gene_variant,,ENST00000548177,;CALCOCO1,downstream_gene_variant,,ENST00000551900,;CALCOCO1,downstream_gene_variant,,ENST00000549173,;CALCOCO1,downstream_gene_variant,,ENST00000552623,;CALCOCO1,downstream_gene_variant,,ENST00000546619,;CALCOCO1,downstream_gene_variant,,ENST00000549688,;CALCOCO1,downstream_gene_variant,,ENST00000547885,;CALCOCO1,downstream_gene_variant,,ENST00000547949,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000549935,;CALCOCO1,non_coding_transcript_exon_variant,,ENST00000547988,;CALCOCO1,downstream_gene_variant,,ENST00000546774,;CALCOCO1,downstream_gene_variant,,ENST00000548431,;CALCOCO1,upstream_gene_variant,,ENST00000552282,;CALCOCO1,downstream_gene_variant,,ENST00000553154,;							MODERATE	587/2076	T196R	CACO1_HUMAN			Transcript		possibly_damaging(0.503)	.	ENSP00000449960		CCDS8864.1			1	
SYNE1	0	LGGM	GRCh37	6	152583167	152583167	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	26	3	.	.	ENST00000367255.5:c.18972G>T	p.Val6324=	p.V6324=	ENST00000367255	NM_182961.3	6324	gtG/gtT	0	1	1	UPI000204AF58	0		ENST00000367255		ENSG00000131018	17089		29			HGNC	p.V6253V		SYNE1		SNV			1				ENST00000448038	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Low_complexity_(Seg):seg		V		A		19574/27748							YES	SYNE1,splice_region_variant,p.=,ENST00000367255,NM_182961.3;SYNE1,splice_region_variant,p.=,ENST00000265368,;SYNE1,splice_region_variant,p.=,ENST00000448038,;SYNE1,splice_region_variant,p.=,ENST00000423061,NM_033071.3;SYNE1,splice_region_variant,p.=,ENST00000341594,;SYNE1,splice_region_variant,p.=,ENST00000356820,;SYNE1,splice_region_variant,,ENST00000367256,;SYNE1,splice_region_variant,,ENST00000409694,;SYNE1,splice_region_variant,,ENST00000545694,;							LOW	18972/26394		SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
ACAT2	0	LGGM	GRCh37	6	160199277	160199277	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	26	3	.	.	ENST00000367048.4:c.988G>C	p.Ala330Pro	p.A330P	ENST00000367048	NM_005891.2	330	Gca/Cca	0	1	1	UPI000013CA85	0	getma.org/pdb.php?prot=THIC_HUMAN&from=274&to=396&var=A330P	ENST00000367048		ENSG00000120437	94		29	2.75		HGNC	p.A359P		ACAT2		SNV							ENST00000541436	protein_coding	getma.org/?cm=var&var=hg19,6,160199277,G,C&fts=all		hmmpanther:PTHR18919:SF80,hmmpanther:PTHR18919,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR01930,Pfam_domain:PF02803,PIRSF_domain:PIRSF000429,Superfamily_domains:SSF53901		A/P		C	medium	2748/3180		getma.org/?cm=msa&ty=f&p=THIC_HUMAN&rb=274&re=396&var=A330P	deleterious(0)				YES	ACAT2,missense_variant,p.Ala330Pro,ENST00000367048,NM_005891.2;ACAT2,missense_variant,p.Ala359Pro,ENST00000541436,;TCP1,downstream_gene_variant,,ENST00000321394,NM_030752.2;TCP1,downstream_gene_variant,,ENST00000392168,NM_001008897.1;TCP1,downstream_gene_variant,,ENST00000420894,;TCP1,downstream_gene_variant,,ENST00000544255,;TCP1,downstream_gene_variant,,ENST00000539756,;SNORA20,downstream_gene_variant,,ENST00000384662,NR_002960.1;ACAT2,non_coding_transcript_exon_variant,,ENST00000472052,;ACAT2,downstream_gene_variant,,ENST00000467951,;TCP1,downstream_gene_variant,,ENST00000536807,;TCP1,downstream_gene_variant,,ENST00000546204,;							MODERATE	988/1194	A330P	THIC_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000356015		CCDS5268.1			1	
C15orf39	0	LGGM	GRCh37	15	75500291	75500291	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	40	3	.	.	ENST00000360639.2:c.1902C>A	p.Thr634=	p.T634=	ENST00000360639		634	acC/acA	0	1	1	UPI000004F079	0		ENST00000360639		ENSG00000167173	24497		43			HGNC	p.T634T		C15orf39		SNV							ENST00000567617	protein_coding					T		A		2222/4517				H3BT66_HUMAN,H3BRS2_HUMAN,H3BN41_HUMAN			YES	C15orf39,synonymous_variant,p.=,ENST00000360639,;C15orf39,synonymous_variant,p.=,ENST00000394987,NM_015492.4;C15orf39,synonymous_variant,p.=,ENST00000567617,;C15orf39,synonymous_variant,p.=,ENST00000565074,;C15orf39,downstream_gene_variant,,ENST00000563905,;C15orf39,downstream_gene_variant,,ENST00000562637,;C15orf39,downstream_gene_variant,,ENST00000564848,;RP11-69H7.3,downstream_gene_variant,,ENST00000563568,;							LOW	1902/3144		CO039_HUMAN			Transcript			.	ENSP00000353854		CCDS10276.1			1	
KIAA0319	0	LGGM	GRCh37	6	24559253	24559253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	9	3	.	.	ENST00000378214.3:c.2722G>T	p.Val908Phe	p.V908F	ENST00000378214	NM_014809.3	908	Gtt/Ttt	0	1	1	UPI000020D61A	0	NA	ENST00000378214		ENSG00000137261	21580		12	2.095		HGNC	p.V863F	rs764651788	KIAA0319		SNV			1				ENST00000430948	protein_coding	getma.org/?cm=var&var=hg19,6,24559253,C,A&fts=all		hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194		V/F		A	medium	3247/6802	2.03E-05	getma.org/?cm=msa&ty=f&p=K0319_HUMAN&rb=816&re=1015&var=V908F	deleterious(0)				YES	KIAA0319,missense_variant,p.Val899Phe,ENST00000535378,NM_001168374.1;KIAA0319,missense_variant,p.Val908Phe,ENST00000378214,NM_014809.3,NM_001168375.1;KIAA0319,missense_variant,p.Val908Phe,ENST00000537886,NM_001168377.1;KIAA0319,missense_variant,p.Val863Phe,ENST00000430948,NM_001168376.1;KIAA0319,missense_variant,p.Val908Phe,ENST00000543707,;							MODERATE	2722/3219	V908F	K0319_HUMAN			Transcript		benign(0.439)	.	ENSP00000367459	1.65E-05	CCDS34348.1			1	
ZSWIM4	0	LGGM	GRCh37	19	13941847	13941847	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	25	3	.	.	ENST00000254323.2:c.2953C>A	p.Arg985=	p.R985=	ENST00000254323	NM_023072.2	985	Cgg/Agg	0	1	1	UPI00001C2005	0		ENST00000254323		ENSG00000132003	25704		28			HGNC	p.R819R		ZSWIM4		SNV							ENST00000440752	protein_coding			hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4		R		A		3142/4339				Q9HA55_HUMAN			YES	ZSWIM4,synonymous_variant,p.=,ENST00000254323,NM_023072.2;ZSWIM4,synonymous_variant,p.=,ENST00000590508,;ZSWIM4,synonymous_variant,p.=,ENST00000440752,;ZSWIM4,downstream_gene_variant,,ENST00000592227,;MIR24-2,downstream_gene_variant,,ENST00000587762,;							LOW	2953/2970		ZSWM4_HUMAN			Transcript			.	ENSP00000254323		CCDS32924.1			1	
MAST2	0	LGGM	GRCh37	1	46494445	46494445	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	39	3	.	.	ENST00000361297.2:c.2058C>T	p.Cys686=	p.C686=	ENST00000361297	NM_015112.2	686	tgC/tgT	0	1	1	UPI0000458AEB	0		ENST00000361297		ENSG00000086015	19035		42			HGNC	p.C571C	rs372751187,COSM910242,COSM3930798	MAST2		SNV	T:0					0,1,1	ENST00000372008	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		C	T:0.0001	T		2341/5738	4.50E-05			Q9NT11_HUMAN			YES	MAST2,synonymous_variant,p.=,ENST00000361297,NM_015112.2;MAST2,synonymous_variant,p.=,ENST00000372009,;MAST2,synonymous_variant,p.=,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000477968,;MAST2,downstream_gene_variant,,ENST00000467367,;	0.000232				0,1,1		LOW	2058/5397		MAST2_HUMAN			Transcript			.	ENSP00000354671	4.13E-05	CCDS41326.1			1	
SLC27A4	0	LGGM	GRCh37	9	131117742	131117742	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	11	3	.	.	ENST00000300456.4:c.1528C>A	p.Arg510Ser	p.R510S	ENST00000300456	NM_005094.3	510	Cgc/Agc	0	1	1	UPI0000038E80	0	getma.org/pdb.php?prot=S27A4_HUMAN&from=103&to=536&var=R510S	ENST00000300456		ENSG00000167114	10998		14	3.68		HGNC	p.R104S		SLC27A4		SNV			1				ENST00000372870	protein_coding	getma.org/?cm=var&var=hg19,9,131117742,C,A&fts=all		hmmpanther:PTHR24096:SF145,hmmpanther:PTHR24096,Gene3D:3.30.300.30,Pfam_domain:PF00501,Superfamily_domains:SSF56801		R/S		A	high	1645/3028		getma.org/?cm=msa&ty=f&p=S27A4_HUMAN&rb=103&re=536&var=R510S	deleterious(0)				YES	SLC27A4,missense_variant,p.Arg510Ser,ENST00000300456,NM_005094.3;SLC27A4,missense_variant,p.Arg104Ser,ENST00000372870,;							MODERATE	1528/1932	R510S	S27A4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000300456		CCDS6899.1			1	
BRWD1	0	LGGM	GRCh37	21	40665930	40665930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	31	3	.	.	ENST00000333229.2:c.638G>T	p.Trp213Leu	p.W213L	ENST00000333229	NM_018963.4	213	tGg/tTg	0	1	1	UPI0000163C12	0	NA	ENST00000333229		ENSG00000185658	12760		34	3.73		HGNC	p.W213L		BRWD1		SNV							ENST00000342449	protein_coding	getma.org/?cm=var&var=hg19,21,40665930,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26,SMART_domains:SM00320,Superfamily_domains:SSF50978		W/L		A	high	966/10141		getma.org/?cm=msa&ty=f&p=BRWD1_HUMAN&rb=177&re=214&var=W213L	deleterious(0)				YES	BRWD1,missense_variant,p.Trp213Leu,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Trp213Leu,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Trp213Leu,ENST00000380800,;BRWD1,downstream_gene_variant,,ENST00000341322,NM_001007246.2;BRWD1,downstream_gene_variant,,ENST00000470108,;							MODERATE	638/6963	W213L	BRWD1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000330753		CCDS13662.1			1	
TUBE1	0	LGGM	GRCh37	6	112397665	112397665	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	17	3	.	.	ENST00000368662.5:c.496G>T	p.Glu166Ter	p.E166*	ENST00000368662	NM_016262.4	166	Gaa/Taa	0	1	1	UPI0000136A4E	0	NA	ENST00000368662		ENSG00000074935	20775		20	0		HGNC	p.E122X		TUBE1		SNV							ENST00000441191	protein_coding	getma.org/?cm=var&var=hg19,6,112397665,C,A&fts=all		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF13,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161,Prints_domain:PR01519		E/*		A	NA	575/2142		NA					YES	TUBE1,stop_gained,p.Glu166Ter,ENST00000368662,NM_016262.4;TUBE1,non_coding_transcript_exon_variant,,ENST00000604814,;TUBE1,non_coding_transcript_exon_variant,,ENST00000441191,;TUBE1,stop_gained,p.Glu166Ter,ENST00000605457,;TUBE1,3_prime_UTR_variant,,ENST00000604743,;TUBE1,3_prime_UTR_variant,,ENST00000604967,;TUBE1,non_coding_transcript_exon_variant,,ENST00000604689,;TUBE1,downstream_gene_variant,,ENST00000368657,;TUBE1,upstream_gene_variant,,ENST00000603651,;							HIGH	496/1428	E166*	TBE_HUMAN			Transcript			.	ENSP00000357651		CCDS5100.1			1	
IFITM5	0	LGGM	GRCh37	11	298630	298630	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	7	4	.	.	ENST00000382614.2:c.270G>T	p.Ala90=	p.A90=	ENST00000382614	NM_001025295.2	90	gcG/gcT	0	1	1	UPI0000161610	0		ENST00000382614		ENSG00000206013	16644		11			HGNC	p.A90A		IFITM5		SNV			1				ENST00000382614	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF10,Transmembrane_helices:TMhelix		A		A		306/736							YES	IFITM5,synonymous_variant,p.=,ENST00000382614,NM_001025295.2;ATHL1,downstream_gene_variant,,ENST00000409548,NM_025092.4;ATHL1,downstream_gene_variant,,ENST00000409479,;ATHL1,downstream_gene_variant,,ENST00000409655,;ATHL1,downstream_gene_variant,,ENST00000397660,;ATHL1,downstream_gene_variant,,ENST00000474221,;ATHL1,downstream_gene_variant,,ENST00000476372,;							LOW	270/399		IFM5_HUMAN			Transcript			.	ENSP00000372059		CCDS31323.1			1	
ALPK1	0	LGGM	GRCh37	4	113351829	113351829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	16	4	.	.	ENST00000458497.1:c.1126C>A	p.His376Asn	p.H376N	ENST00000458497	NM_001102406.1	376	Cat/Aat	0	1		UPI000045725F	0	NA	ENST00000177648		ENSG00000073331	20917		20	0.69		HGNC	p.H376N		ALPK1		SNV							ENST00000458497	protein_coding	getma.org/?cm=var&var=hg19,4,113351829,C,A&fts=all		hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187		H/N		A	neutral	1326/4537		getma.org/?cm=msa&ty=f&p=ALPK1_HUMAN&rb=1&re=507&var=H376N	tolerated(0.43)					ALPK1,missense_variant,p.His376Asn,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,missense_variant,p.His376Asn,ENST00000177648,;ALPK1,missense_variant,p.His298Asn,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,;							MODERATE	1126/3735	H376N	ALPK1_HUMAN			Transcript		benign(0.039)	.	ENSP00000177648		CCDS3697.1			1	
TXLNA	0	LGGM	GRCh37	1	32646083	32646083	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	8	4	.	.	ENST00000373609.1:c.137C>A	p.Pro46His	p.P46H	ENST00000373609		46	cCc/cAc	0	1	1	UPI000000D7D9	0	NA	ENST00000373609		ENSG00000084652	30685		12	0		HGNC	p.P46H		TXLNA		SNV							ENST00000373609	protein_coding	getma.org/?cm=var&var=hg19,1,32646083,C,A&fts=all		hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF12		P/H		A	neutral	418/5012		getma.org/?cm=msa&ty=f&p=TXLNA_HUMAN&rb=1&re=165&var=P46H	deleterious(0.04)				YES	TXLNA,missense_variant,p.Pro46His,ENST00000373609,;TXLNA,missense_variant,p.Pro46His,ENST00000373610,NM_175852.3;KPNA6,downstream_gene_variant,,ENST00000373625,NM_012316.4;RP4-622L5.2,downstream_gene_variant,,ENST00000515055,;							MODERATE	137/1641	P46H	TXLNA_HUMAN			Transcript		benign(0.129)	.	ENSP00000362711		CCDS353.1			1	
SLC18A1	0	LGGM	GRCh37	8	20005120	20005120	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	2	5	.	.	ENST00000440926.1:c.1324G>T	p.Ala442Ser	p.A442S	ENST00000440926	NM_001135691.2	442	Gct/Tct	0	1		UPI00001389CE	0	NA	ENST00000276373		ENSG00000036565	10934		7	1.985		HGNC	p.A442S		SLC18A1		SNV							ENST00000440926	protein_coding	getma.org/?cm=var&var=hg19,8,20005120,C,A&fts=all		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF71,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		A/S		A	medium	1591/2753		getma.org/?cm=msa&ty=f&p=VMAT1_HUMAN&rb=422&re=493&var=A442S	deleterious(0)					SLC18A1,missense_variant,p.Ala442Ser,ENST00000440926,NM_001135691.2;SLC18A1,missense_variant,p.Ala442Ser,ENST00000437980,NM_001142325.1;SLC18A1,missense_variant,p.Ala410Ser,ENST00000265808,NM_001142324.1;SLC18A1,missense_variant,p.Ala442Ser,ENST00000276373,NM_003053.3;SLC18A1,missense_variant,p.Ala410Ser,ENST00000519026,;SLC18A1,missense_variant,p.Ala442Ser,ENST00000381608,;SLC18A1,3_prime_UTR_variant,,ENST00000517776,;SLC18A1,non_coding_transcript_exon_variant,,ENST00000519171,;							MODERATE	1324/1578	A442S	VMAT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276373		CCDS6013.1			1	
CSMD2	0	LGGM	GRCh37	1	34071514	34071514	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	9	6	.	.	ENST00000241312.4:c.6298A>G	p.Thr2100Ala	p.T2100A	ENST00000241312		2100	Act/Gct	0	1	1	UPI00004561AB	0	NA	ENST00000241312		ENSG00000121904	19290		15	0		HGNC	p.T2100A	rs373012944	CSMD2		SNV	C:0						ENST00000241312	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,34071514,T,C&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF334		T/A	C:0.0001	C	neutral	6327/13108	1.51E-05	getma.org/?cm=msa&ty=f&p=CSMD2_HUMAN&rb=2074&re=2122&var=T2100A	tolerated_low_confidence(0.86)				YES	CSMD2,intron_variant,,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,intron_variant,,ENST00000373380,;CSMD2,intron_variant,,ENST00000373388,;CSMD2,intron_variant,,ENST00000373377,;CSMD2,upstream_gene_variant,,ENST00000489419,;CSMD2,missense_variant,p.Thr2100Ala,ENST00000241312,;							MODERATE	6298/10464	T2100A	CSMD2_HUMAN			Transcript		benign(0)	.	ENSP00000241312	8.24E-06	CCDS380.1			1	
SFRP5	0	LGGM	GRCh37	10	99531391	99531391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	15	7	.	.	ENST00000266066.3:c.200G>A	p.Gly67Asp	p.G67D	ENST00000266066	NM_003015.3	67	gGc/gAc	0	1	1	UPI000013D6CB	0	getma.org/pdb.php?prot=SFRP5_HUMAN&from=53&to=163&var=G67D	ENST00000266066		ENSG00000120057	10779		22	2.61		HGNC	p.G67D	rs777473084	SFRP5		SNV							ENST00000266066	protein_coding	getma.org/?cm=var&var=hg19,10,99531391,C,T&fts=all		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF85,SMART_domains:SM00063,Superfamily_domains:SSF63501		G/D		T	medium	319/1836	1.62E-05	getma.org/?cm=msa&ty=f&p=SFRP5_HUMAN&rb=53&re=163&var=G67D	deleterious(0.01)				YES	SFRP5,missense_variant,p.Gly67Asp,ENST00000266066,NM_003015.3;							MODERATE	200/954	G67D	SFRP5_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000266066	8.26E-06	CCDS7472.1			1	
PRDM14	0	LGGM	GRCh37	8	70981505	70981505	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	10	7	.	.	ENST00000276594.2:c.591C>T	p.Phe197=	p.F197=	ENST00000276594	NM_024504.3	197	ttC/ttT	0	1	1	UPI0000132186	0		ENST00000276594		ENSG00000147596	14001		17			HGNC	p.F197F	COSM3650677	PRDM14		SNV						1	ENST00000276594	protein_coding			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354		F		A		793/2344				C9JMM8_HUMAN			YES	PRDM14,synonymous_variant,p.=,ENST00000276594,NM_024504.3;PRDM14,downstream_gene_variant,,ENST00000426346,;					1		LOW	591/1716		PRD14_HUMAN			Transcript			.	ENSP00000276594		CCDS6206.1			1	
PIGZ	0	LGGM	GRCh37	3	196674619	196674619	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	12	7	.	.	ENST00000412723.1:c.1149C>T	p.Ala383=	p.A383=	ENST00000412723	NM_025163.3	383	gcC/gcT	0	1	1	UPI000013CA2C	0		ENST00000412723		ENSG00000119227	30596		19			HGNC	p.A383A		PIGZ		SNV							ENST00000412723	protein_coding			Pfam_domain:PF03901,hmmpanther:PTHR22760,hmmpanther:PTHR22760:SF3		A		A		1296/2701							YES	PIGZ,synonymous_variant,p.=,ENST00000412723,NM_025163.3;PIGZ,3_prime_UTR_variant,,ENST00000413127,;PIGZ,downstream_gene_variant,,ENST00000443835,;NCBP2-AS2,downstream_gene_variant,,ENST00000602845,;PIGZ,downstream_gene_variant,,ENST00000238138,;							LOW	1149/1740		PIGZ_HUMAN			Transcript			.	ENSP00000413405		CCDS3324.1			1	
HTR4	0	LGGM	GRCh37	5	147863904	147863904	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	34	8	.	.	ENST00000360693.3:c.1115A>G	p.Tyr372Cys	p.Y372C	ENST00000360693	NM_001040173.2	372	tAt/tGt	0	1		UPI0000000A0C	0	NA	ENST00000377888		ENSG00000164270	5299		42	1.04		HGNC	p.Y372C		HTR4		SNV							ENST00000360693	protein_coding	getma.org/?cm=var&var=hg19,5,147863904,T,C&fts=all						C	low	-/2962		getma.org/?cm=msa&ty=f&p=C4WYH4_HUMAN&rb=313&re=411&var=L369C						HTR4,missense_variant,p.Tyr372Cys,ENST00000360693,NM_001040173.2;HTR4,intron_variant,,ENST00000362016,;HTR4,intron_variant,,ENST00000377888,NM_000870.5;HTR4,intron_variant,,ENST00000314512,NM_199453.3;HTR4,intron_variant,,ENST00000354217,;HTR4,intron_variant,,ENST00000521530,NM_001040169.2;HTR4,intron_variant,,ENST00000521735,;HTR4,intron_variant,,ENST00000520514,NM_001286410.1;HTR4,intron_variant,,ENST00000517929,NM_001040172.2;HTR4,intron_variant,,ENST00000524063,;HTR4,intron_variant,,ENST00000522588,;							MODIFIER	-/1167	L369C	5HT4R_HUMAN			Transcript			.	ENSP00000367120		CCDS4291.1			1	
PIK3R4	0	LGGM	GRCh37	3	130399899	130399899	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	20	9	.	.	ENST00000356763.3:c.3719A>G	p.His1240Arg	p.H1240R	ENST00000356763	NM_014602.2	1240	cAt/cGt	0	1	1	UPI0000071EF3	0	NA	ENST00000356763		ENSG00000196455	8982		29	1.845		HGNC	p.H1240R		PIK3R4		SNV							ENST00000356763	protein_coding	getma.org/?cm=var&var=hg19,3,130399899,T,C&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR17583,PROSITE_profiles:PS50294		H/R		C	low	4277/5015		getma.org/?cm=msa&ty=f&p=PI3R4_HUMAN&rb=1230&re=1269&var=H1240R	deleterious(0.01)	D6RJ98_HUMAN,D6RBB7_HUMAN,D6RAC3_HUMAN			YES	PIK3R4,missense_variant,p.His1240Arg,ENST00000356763,NM_014602.2;COL6A6,downstream_gene_variant,,ENST00000358511,NM_001102608.1;COL6A6,downstream_gene_variant,,ENST00000453409,;PIK3R4,non_coding_transcript_exon_variant,,ENST00000512677,;PIK3R4,non_coding_transcript_exon_variant,,ENST00000512362,;PIK3R4,non_coding_transcript_exon_variant,,ENST00000511760,;COL6A6,downstream_gene_variant,,ENST00000506143,;							MODERATE	3719/4077	H1240R	PI3R4_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000349205		CCDS3067.1			1	
ATP13A3	0	LGGM	GRCh37	3	194158175	194158175	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	22	9	.	.	ENST00000439040.1:c.1864A>G	p.Ile622Val	p.I622V	ENST00000439040		622	Att/Gtt	0	1		UPI000049DFC3	0	NA	ENST00000256031		ENSG00000133657	24113		31	1.265		HGNC	p.I622V		ATP13A3		SNV							ENST00000256031	protein_coding	getma.org/?cm=var&var=hg19,3,194158175,T,C&fts=all		Gene3D:3.40.1110.10,Pfam_domain:PF12710,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657		I/V		C	low	2266/7322		getma.org/?cm=msa&ty=f&p=AT133_HUMAN&rb=495&re=892&var=I622V	tolerated(0.1)	C9JAP7_HUMAN,C9J7Z7_HUMAN				ATP13A3,missense_variant,p.Ile622Val,ENST00000439040,;ATP13A3,missense_variant,p.Ile622Val,ENST00000256031,NM_024524.3;							MODERATE	1864/3681	I622V	AT133_HUMAN			Transcript		benign(0.098)	.	ENSP00000256031		CCDS43187.1			1	
ANK3	0	LGGM	GRCh37	10	62023746	62023746	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	9	9	.	.	ENST00000280772.2:c.546A>G	p.Gln182=	p.Q182=	ENST00000280772	NM_020987.3	182	caA/caG	0	1	1	UPI0000141BA9	0		ENST00000280772		ENSG00000151150	494		18			HGNC	p.Q156Q		ANK3		SNV			1				ENST00000503925	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF00023,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,SMART_domains:SM00248,Superfamily_domains:SSF48403		Q		C		738/16874				D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,synonymous_variant,p.=,ENST00000280772,NM_020987.3;ANK3,synonymous_variant,p.=,ENST00000373827,NM_001204403.1;ANK3,synonymous_variant,p.=,ENST00000503366,NM_001204404.1;ANK3,synonymous_variant,p.=,ENST00000503925,;							LOW	546/13134		ANK3_HUMAN			Transcript			.	ENSP00000280772		CCDS7258.1			1	
SGCZ	0	LGGM	GRCh37	8	14022164	14022164	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	10	11	.	.	ENST00000382080.1:c.472A>G	p.Ser158Gly	p.S158G	ENST00000382080	NM_139167.2	158	Agt/Ggt	0	1	1	UPI00002339F6	0	NA	ENST00000382080		ENSG00000185053	14075		21	2.305		HGNC	p.S111G		SGCZ		SNV							ENST00000421524	protein_coding	getma.org/?cm=var&var=hg19,8,14022164,T,C&fts=all		Pfam_domain:PF04790,hmmpanther:PTHR12939,hmmpanther:PTHR12939:SF5		S/G		C	medium	1188/2234		getma.org/?cm=msa&ty=f&p=SGCZ_HUMAN&rb=23&re=290&var=S145G	tolerated(0.06)				YES	SGCZ,missense_variant,p.Ser158Gly,ENST00000382080,NM_139167.2;SGCZ,missense_variant,p.Ser111Gly,ENST00000421524,;RP11-3G21.1,intron_variant,,ENST00000527110,;							MODERATE	472/939	S145G	SGCZ_HUMAN			Transcript		benign(0.002)	.	ENSP00000371512		CCDS5992.2			1	
BDP1	0	LGGM	GRCh37	5	70793104	70793104	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	26	11	.	.	ENST00000358731.4:c.1807G>A	p.Asp603Asn	p.D603N	ENST00000358731	NM_018429.2	603	Gat/Aat	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		37	1.445		HGNC	p.D603N		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70793104,G,A&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		D/N		A	low	2070/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=D603N	tolerated(0.13)				YES	BDP1,missense_variant,p.Asp603Asn,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;							MODERATE	1807/7875	D603N	BDP1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000351575		CCDS43328.1			1	
LPCAT1	0	LGGM	GRCh37	5	1466939	1466939	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	18	11	.	.	ENST00000283415.3:c.1345C>G	p.Leu449Val	p.L449V	ENST00000283415	NM_024830.3	449	Ctg/Gtg	0	1	1	UPI000004771C	0	NA	ENST00000283415		ENSG00000153395	25718		29	3.07		HGNC	p.L449V		LPCAT1		SNV							ENST00000283415	protein_coding	getma.org/?cm=var&var=hg19,5,1466939,G,C&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF13833,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF11,Superfamily_domains:SSF47473		L/V		C	medium	1478/3966		getma.org/?cm=msa&ty=f&p=PCAT1_HUMAN&rb=432&re=483&var=L449V	deleterious(0)	D3DTC2_HUMAN			YES	LPCAT1,missense_variant,p.Leu449Val,ENST00000283415,NM_024830.3;LPCAT1,non_coding_transcript_exon_variant,,ENST00000503252,;LPCAT1,missense_variant,p.Leu449Val,ENST00000475622,;							MODERATE	1345/1605	L449V	PCAT1_HUMAN			Transcript		benign(0.17)	.	ENSP00000283415		CCDS3864.1			1	
PPP6R3	0	LGGM	GRCh37	11	68380539	68380539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	31	12	.	.	ENST00000393801.3:c.2594G>T	p.Gly865Val	p.G865V	ENST00000393801	NM_001164160.1	865	gGc/gTc	0	1		UPI00001FADF3	0	NA	ENST00000393800		ENSG00000110075	1173		43	0		HGNC	p.G830V		PPP6R3		SNV							ENST00000524845	protein_coding	getma.org/?cm=var&var=hg19,11,68380539,G,T&fts=all		hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634		G/V		T	neutral	2830/5093		getma.org/?cm=msa&ty=f&p=PP6R3_HUMAN&rb=714&re=873&var=G859V	tolerated(0.09)	Q9H880_HUMAN,E9PNN8_HUMAN,E9PKG4_HUMAN,E9PK08_HUMAN,E9PJD8_HUMAN				PPP6R3,missense_variant,p.Gly865Val,ENST00000393799,;PPP6R3,missense_variant,p.Gly859Val,ENST00000393800,NM_001164161.1,NM_001164163.1,NM_001164162.1;PPP6R3,missense_variant,p.Gly865Val,ENST00000393801,NM_001164160.1;PPP6R3,missense_variant,p.Gly824Val,ENST00000527403,;PPP6R3,missense_variant,p.Gly779Val,ENST00000265636,NM_018312.4;PPP6R3,missense_variant,p.Gly813Val,ENST00000265637,;PPP6R3,missense_variant,p.Gly853Val,ENST00000524904,;PPP6R3,missense_variant,p.Gly627Val,ENST00000534534,;PPP6R3,missense_variant,p.Gly830Val,ENST00000524845,;PPP6R3,missense_variant,p.Gly566Val,ENST00000534190,;PPP6R3,missense_variant,p.Gly37Val,ENST00000530734,;PPP6R3,intron_variant,,ENST00000529710,NM_001164164.1;CTD-2007L18.5,non_coding_transcript_exon_variant,,ENST00000565199,;CTD-2007L18.5,downstream_gene_variant,,ENST00000564469,;CTD-2007L18.5,downstream_gene_variant,,ENST00000565473,;PPP6R3,3_prime_UTR_variant,,ENST00000526593,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526307,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000525152,;							MODERATE	2576/2622	G859V	PP6R3_HUMAN			Transcript		benign(0)	.	ENSP00000377389		CCDS53672.1			1	
ATP10A	0	LGGM	GRCh37	15	25971216	25971216	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	17	12	.	.	ENST00000356865.6:c.861G>A	p.Lys287=	p.K287=	ENST00000356865	NM_024490.3	287	aaG/aaA	0	1	1	UPI0000124FAB	0		ENST00000356865		ENSG00000206190	13542		29			HGNC	p.K287K		ATP10A		SNV			1				ENST00000555815	protein_coding			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Gene3D:2.70.150.10,Superfamily_domains:0049471		K		T		973/6680							YES	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,synonymous_variant,p.=,ENST00000555815,;							LOW	861/4500		AT10A_HUMAN			Transcript			.	ENSP00000349325		CCDS32178.1			1	
FIBCD1	0	LGGM	GRCh37	9	133779618	133779618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	14	13	.	.	ENST00000372338.4:c.1219G>A	p.Gly407Ser	p.G407S	ENST00000372338	NM_032843.4	407	Ggt/Agt	0	1	1	UPI0000049DF9	0	getma.org/pdb.php?prot=FBCD1_HUMAN&from=240&to=457&var=G407S	ENST00000372338		ENSG00000130720	25922		27	1.805		HGNC	p.G249S	rs779559388	FIBCD1	6.07E-05	SNV							ENST00000372337	protein_coding	getma.org/?cm=var&var=hg19,9,133779618,C,T&fts=all		PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF45,Pfam_domain:PF00147,Gene3D:4.10.530.10,SMART_domains:SM00186,Superfamily_domains:SSF56496		G/S		T	low	1462/3253		getma.org/?cm=msa&ty=f&p=FBCD1_HUMAN&rb=240&re=457&var=G407S	deleterious(0.02)	A7YSM1_HUMAN,A3KFJ8_HUMAN			YES	FIBCD1,missense_variant,p.Gly407Ser,ENST00000372338,NM_032843.4;FIBCD1,missense_variant,p.Gly407Ser,ENST00000448616,NM_001145106.1;FIBCD1,missense_variant,p.Gly249Ser,ENST00000372337,;FIBCD1,intron_variant,,ENST00000444139,;FIBCD1,intron_variant,,ENST00000253018,;							MODERATE	1219/1386	G407S	FBCD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361413	8.24E-06	CCDS6937.1			1	
MAP2	0	LGGM	GRCh37	2	210561393	210561393	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	53	13	.	.	ENST00000360351.4:c.4308C>A	p.Gly1436=	p.G1436=	ENST00000360351	NM_002374.3	1436	ggC/ggA	0	1	1	UPI000013D119	0		ENST00000360351		ENSG00000078018	6839		66			HGNC	p.G1432G		MAP2		SNV							ENST00000447185	protein_coding			hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377		G		A		4814/9711				A8MZ31_HUMAN			YES	MAP2,synonymous_variant,p.=,ENST00000360351,NM_002374.3;MAP2,synonymous_variant,p.=,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;MAP2,non_coding_transcript_exon_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;							LOW	4308/5484		MTAP2_HUMAN			Transcript			.	ENSP00000353508		CCDS2384.1			1	
EPN3	0	LGGM	GRCh37	17	48614010	48614010	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	33	13	.	.	ENST00000268933.3:c.93C>A	p.Asp31Glu	p.D31E	ENST00000268933	NM_017957.2	31	gaC/gaA	0	1	1	UPI0000073234	0	getma.org/pdb.php?prot=EPN3_HUMAN&from=17&to=140&var=D31E	ENST00000268933		ENSG00000049283	18235		46	1.365		HGNC	p.D31E		EPN3		SNV							ENST00000503246	protein_coding	getma.org/?cm=var&var=hg19,17,48614010,C,A&fts=all		Gene3D:1.25.40.90,Pfam_domain:PF01417,PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF16,SMART_domains:SM00273,Superfamily_domains:SSF48464		D/E		A	low	672/4071		getma.org/?cm=msa&ty=f&p=EPN3_HUMAN&rb=17&re=140&var=D31E	deleterious(0)	D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN			YES	EPN3,missense_variant,p.Asp31Glu,ENST00000268933,NM_017957.2;EPN3,missense_variant,p.Asp31Glu,ENST00000507467,;EPN3,missense_variant,p.Asp31Glu,ENST00000503246,;EPN3,missense_variant,p.Asp31Glu,ENST00000514874,;EPN3,missense_variant,p.Asp31Glu,ENST00000515126,;EPN3,5_prime_UTR_variant,,ENST00000507709,;EPN3,intron_variant,,ENST00000537145,;EPN3,intron_variant,,ENST00000541226,;EPN3,downstream_gene_variant,,ENST00000503690,;RP11-94C24.8,downstream_gene_variant,,ENST00000513017,;EPN3,intron_variant,,ENST00000511414,;EPN3,intron_variant,,ENST00000507998,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,downstream_gene_variant,,ENST00000571402,;EPN3,missense_variant,p.Asp31Glu,ENST00000510045,;EPN3,missense_variant,p.Asp31Glu,ENST00000574464,;EPN3,intron_variant,,ENST00000512379,;EPN3,intron_variant,,ENST00000512291,;RP11-94C24.8,downstream_gene_variant,,ENST00000509260,;							MODERATE	93/1899	D31E	EPN3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000268933		CCDS11570.1			1	
DLL4	0	LGGM	GRCh37	15	41223764	41223764	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050603	H050603N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	30	13	.	.	ENST00000249749.5:c.458A>T	p.Gln153Leu	p.Q153L	ENST00000249749	NM_019074.3	153	cAg/cTg	0	1	1	UPI0000047825	0	NA	ENST00000249749		ENSG00000128917	2910		43	0		HGNC	p.Q153L		DLL4		SNV							ENST00000249749	protein_coding	getma.org/?cm=var&var=hg19,15,41223764,A,T&fts=all		hmmpanther:PTHR24044:SF249,hmmpanther:PTHR24044		Q/L		T	neutral	734/3339		getma.org/?cm=msa&ty=f&p=DLL4_HUMAN&rb=93&re=154&var=Q153L	deleterious(0.02)				YES	DLL4,missense_variant,p.Gln153Leu,ENST00000249749,NM_019074.3;DLL4,non_coding_transcript_exon_variant,,ENST00000559440,;DLL4,downstream_gene_variant,,ENST00000557876,;							MODERATE	458/2058	Q153L	DLL4_HUMAN			Transcript		benign(0.01)	.	ENSP00000249749		CCDS45232.1			1	
TRIM41	0	LGGM	GRCh37	5	180660659	180660659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	28	13	.	.	ENST00000315073.5:c.1187C>A	p.Pro396His	p.P396H	ENST00000315073	NM_033549.4	396	cCc/cAc	0	1	1	UPI00001B248B	0	NA	ENST00000315073		ENSG00000146063	19013		41	0.115		HGNC	p.P396H		TRIM41		SNV							ENST00000315073	protein_coding	getma.org/?cm=var&var=hg19,5,180660659,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF286		P/H		A	neutral	1897/3637		getma.org/?cm=msa&ty=f&p=TRI41_HUMAN&rb=264&re=432&var=P396H	deleterious(0.03)	D6REK2_HUMAN			YES	TRIM41,missense_variant,p.Pro396His,ENST00000315073,NM_033549.4;TRIM41,missense_variant,p.Pro396His,ENST00000351937,NM_201627.2;TRIM41,missense_variant,p.Pro106His,ENST00000515499,;GNB2L1,downstream_gene_variant,,ENST00000502844,;GNB2L1,downstream_gene_variant,,ENST00000512805,NM_006098.4;GNB2L1,downstream_gene_variant,,ENST00000510199,;GNB2L1,downstream_gene_variant,,ENST00000512968,;GNB2L1,downstream_gene_variant,,ENST00000504128,;GNB2L1,downstream_gene_variant,,ENST00000376817,;GNB2L1,downstream_gene_variant,,ENST00000511900,;GNB2L1,downstream_gene_variant,,ENST00000507756,;GNB2L1,downstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000511566,;GNB2L1,downstream_gene_variant,,ENST00000514455,;GNB2L1,downstream_gene_variant,,ENST00000507000,;GNB2L1,downstream_gene_variant,,ENST00000502905,;GNB2L1,downstream_gene_variant,,ENST00000509535,;GNB2L1,downstream_gene_variant,,ENST00000504726,;CTC-338M12.7,upstream_gene_variant,,ENST00000499096,;TRIM41,upstream_gene_variant,,ENST00000510072,;TRIM41,missense_variant,p.Pro18His,ENST00000514219,;TRIM41,3_prime_UTR_variant,,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;TRIM41,downstream_gene_variant,,ENST00000515834,;GNB2L1,downstream_gene_variant,,ENST00000513060,;GNB2L1,downstream_gene_variant,,ENST00000514183,;GNB2L1,downstream_gene_variant,,ENST00000508682,;GNB2L1,downstream_gene_variant,,ENST00000511473,;GNB2L1,downstream_gene_variant,,ENST00000504325,;GNB2L1,downstream_gene_variant,,ENST00000507273,;							MODERATE	1187/1893	P396H	TRI41_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000320869		CCDS4466.1			1	
SMC1B	0	LGGM	GRCh37	22	45789533	45789533	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	26	14	.	.	ENST00000357450.4:c.1526G>A	p.Arg509Lys	p.R509K	ENST00000357450	NM_148674.3	509	aGa/aAa	0	1	1	UPI000042146E	0	getma.org/pdb.php?prot=SMC1B_HUMAN&from=3&to=1207&var=R509K	ENST00000357450		ENSG00000077935	11112	8.64E-05	40	2.46		HGNC	p.R509K	rs538842061	SMC1B		SNV							ENST00000404354	protein_coding	getma.org/?cm=var&var=hg19,22,45789533,C,T&fts=all	T:0	Superfamily_domains:0038317,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF147		R/K		T	medium	1526/4201		getma.org/?cm=msa&ty=f&p=SMC1B_HUMAN&rb=3&re=1207&var=R509K	tolerated(0.05)		T:0.0014	T:0	YES	SMC1B,missense_variant,p.Arg509Lys,ENST00000357450,NM_148674.3;SMC1B,missense_variant,p.Arg509Lys,ENST00000404354,;		T:0.0002					MODERATE	1526/3708	R509K	SMC1B_HUMAN		T:0	Transcript		possibly_damaging(0.574)	.	ENSP00000350036	8.28E-06	CCDS43027.1		T:0	1	
RTCA	0	LGGM	GRCh37	1	100740382	100740382	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	14	14	.	.	ENST00000260563.4:c.515G>C	p.Gly172Ala	p.G172A	ENST00000260563	NM_001130841.1	172	gGa/gCa	0	1		UPI00001352BF	0	getma.org/pdb.php?prot=RTC1_HUMAN&from=8&to=340&var=G159A	ENST00000370128		ENSG00000137996	17981		28	3.705		HGNC	p.G159A		RTCA		SNV							ENST00000370128	protein_coding	getma.org/?cm=var&var=hg19,1,100740382,G,C&fts=all		Gene3D:3kgdA01,Pfam_domain:PF01137,PROSITE_patterns:PS01287,hmmpanther:PTHR11096,hmmpanther:PTHR11096:SF0,Superfamily_domains:SSF55205,TIGRFAM_domain:TIGR03399		G/A		C	high	645/2535		getma.org/?cm=msa&ty=f&p=RTC1_HUMAN&rb=8&re=340&var=G159A	deleterious(0.01)	B4DSL0_HUMAN,A6NIC1_HUMAN				RTCA,missense_variant,p.Gly159Ala,ENST00000370128,NM_003729.3;RTCA,missense_variant,p.Gly172Ala,ENST00000260563,NM_001130841.1;RTCA,splice_region_variant,,ENST00000498617,;RTCA,downstream_gene_variant,,ENST00000483474,;							MODERATE	476/1101	G159A	RTCA_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000359146		CCDS768.1			1	
HERC5	0	LGGM	GRCh37	4	89421083	89421083	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	12	14	.	.	ENST00000264350.3:c.2451G>T	p.Leu817Phe	p.L817F	ENST00000264350	NM_016323.3	817	ttG/ttT	0	1	1	UPI000013D500	0	getma.org/pdb.php?prot=HERC5_HUMAN&from=731&to=1024&var=L817F	ENST00000264350		ENSG00000138646	24368		26	2.57		HGNC	p.L817F		HERC5		SNV							ENST00000264350	protein_coding	getma.org/?cm=var&var=hg19,4,89421083,G,T&fts=all		Gene3D:1c4zA02,Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF277,SMART_domains:SM00119,Superfamily_domains:SSF56204		L/F		T	medium	2604/3513		getma.org/?cm=msa&ty=f&p=HERC5_HUMAN&rb=731&re=1024&var=L817F	deleterious(0.02)	E9PBL0_HUMAN			YES	HERC5,missense_variant,p.Leu817Phe,ENST00000264350,NM_016323.3;HERC5,missense_variant,p.Leu455Phe,ENST00000508159,;HERC5,non_coding_transcript_exon_variant,,ENST00000510223,;HERC5,non_coding_transcript_exon_variant,,ENST00000502913,;							MODERATE	2451/3075	L817F	HERC5_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000264350		CCDS3630.1			1	
MAP2	0	LGGM	GRCh37	2	210559787	210559787	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	37	16	.	.	ENST00000360351.4:c.2893G>A	p.Glu965Lys	p.E965K	ENST00000360351	NM_002374.3	965	Gaa/Aaa	0	1	1	UPI000013D119	0	NA	ENST00000360351		ENSG00000078018	6839		53	1.845		HGNC	p.E961K		MAP2		SNV							ENST00000447185	protein_coding	getma.org/?cm=var&var=hg19,2,210559787,G,A&fts=all		hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377		E/K		A	low	3399/9711		getma.org/?cm=msa&ty=f&p=MAP2_HUMAN&rb=377&re=1505&var=E965K	deleterious_low_confidence(0)	A8MZ31_HUMAN			YES	MAP2,missense_variant,p.Glu965Lys,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Glu961Lys,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;							MODERATE	2893/5484	E965K	MTAP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353508		CCDS2384.1			1	
SUFU	0	LGGM	GRCh37	10	104377118	104377118	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	23	16	.	.	ENST00000369902.3:c.1229C>G	p.Ser410Cys	p.S410C	ENST00000369902	NM_016169.3	410	tCc/tGc	0	1	1	UPI0000073C79	0	NA	ENST00000369902		ENSG00000107882	16466		39	1.61		HGNC	p.S410C		SUFU		SNV			1				ENST00000423559	protein_coding	getma.org/?cm=var&var=hg19,10,104377118,C,G&fts=all		Pfam_domain:PF12470,PIRSF_domain:PIRSF011844,hmmpanther:PTHR10928,hmmpanther:PTHR10928:SF2		S/C		G	low	1395/5001		getma.org/?cm=msa&ty=f&p=SUFU_HUMAN&rb=252&re=473&var=S410C	deleterious(0.01)				YES	SUFU,missense_variant,p.Ser410Cys,ENST00000369902,NM_016169.3;SUFU,missense_variant,p.Ser410Cys,ENST00000423559,;SUFU,missense_variant,p.Ser410Cys,ENST00000369899,NM_001178133.1;							MODERATE	1229/1455	S410C	SUFU_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000358918		CCDS7537.1			1	
USP43	0	LGGM	GRCh37	17	9631847	9631847	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050603	H050603N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	28	16	.	.	ENST00000285199.7:c.2912A>G	p.Tyr971Cys	p.Y971C	ENST00000285199	NM_001267576.1	971	tAt/tGt	0	1	1	UPI0000047AFB	0	NA	ENST00000285199		ENSG00000154914	20072		44	0		HGNC	p.Y660C		USP43		SNV							ENST00000570827	protein_coding	getma.org/?cm=var&var=hg19,17,9631847,A,G&fts=all				Y/C		G	neutral	3008/4169		getma.org/?cm=msa&ty=f&p=UBP43_HUMAN&rb=745&re=1121&var=Y971C	tolerated(0.18)				YES	USP43,missense_variant,p.Tyr971Cys,ENST00000285199,NM_001267576.1,NM_153210.4;USP43,missense_variant,p.Tyr966Cys,ENST00000570475,;USP43,missense_variant,p.Tyr758Cys,ENST00000574408,;USP43,missense_variant,p.Tyr496Cys,ENST00000573955,;USP43,non_coding_transcript_exon_variant,,ENST00000570827,;							MODERATE	2912/3372	Y971C	UBP43_HUMAN			Transcript		benign(0.252)	.	ENSP00000285199		CCDS45610.1			1	
KALRN	0	LGGM	GRCh37	3	124165048	124165048	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	28	17	.	.	ENST00000240874.3:c.3348G>A	p.Leu1116=	p.L1116=	ENST00000240874	NM_003947.4	1116	ctG/ctA	0	1	1	UPI000012C095	0		ENST00000240874		ENSG00000160145	4814		45			HGNC	p.L1107L		KALRN		SNV			1				ENST00000460856	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Superfamily_domains:SSF46966		L		A		3505/6537							YES	KALRN,synonymous_variant,p.=,ENST00000360013,NM_001024660.3;KALRN,synonymous_variant,p.=,ENST00000354186,;KALRN,synonymous_variant,p.=,ENST00000240874,NM_003947.4;KALRN,synonymous_variant,p.=,ENST00000460856,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;							LOW	3348/4992		KALRN_HUMAN			Transcript			.	ENSP00000240874		CCDS3027.1			1	
PALB2	0	LGGM	GRCh37	16	23614891	23614891	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	28	17	.	.	ENST00000261584.4:c.3450C>T	p.Leu1150=	p.L1150=	ENST00000261584	NM_024675.3	1150	ctC/ctT	0	1	1	UPI000000DA86	0		ENST00000261584		ENSG00000083093	26144		45			HGNC	p.L1150L		PALB2		SNV			1				ENST00000261584	protein_coding			hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		L		A		3603/4003							YES	PALB2,synonymous_variant,p.=,ENST00000261584,NM_024675.3;PALB2,3_prime_UTR_variant,,ENST00000566069,;CTD-2196E14.3,upstream_gene_variant,,ENST00000561764,;PALB2,3_prime_UTR_variant,,ENST00000568219,;							LOW	3450/3561		PALB2_HUMAN			Transcript			.	ENSP00000261584		CCDS32406.1			1	
DNM1	0	LGGM	GRCh37	9	130986579	130986579	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	32	17	.	.	ENST00000372923.3:c.1246C>A	p.Gln416Lys	p.Q416K	ENST00000372923	NM_004408.2	416	Cag/Aag	0	1	1	UPI000013CA31	0	getma.org/pdb.php?prot=DYN1_HUMAN&from=216&to=511&var=Q416K	ENST00000372923		ENSG00000106976	2972		49	4.01		HGNC	p.Q416K		DNM1		SNV			1				ENST00000372923	protein_coding	getma.org/?cm=var&var=hg19,9,130986579,C,A&fts=all		Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32		Q/K		A	high	1338/3221		getma.org/?cm=msa&ty=f&p=DYN1_HUMAN&rb=216&re=511&var=Q416K	deleterious(0.02)				YES	DNM1,missense_variant,p.Gln416Lys,ENST00000341179,NM_001005336.1;DNM1,missense_variant,p.Gln416Lys,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,intron_variant,,ENST00000393594,NM_001288737.1;DNM1,intron_variant,,ENST00000486160,;DNM1,intron_variant,,ENST00000475805,NM_001288738.1;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;DNM1,intron_variant,,ENST00000482638,;							MODERATE	1246/2595	Q416K	DYN1_HUMAN			Transcript		possibly_damaging(0.63)	.	ENSP00000362014		CCDS6895.1			1	
MAP2K2	0	LGGM	GRCh37	19	4117618	4117618	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	50	17	.	.	ENST00000262948.5:c.102G>T	p.Leu34=	p.L34=	ENST00000262948	NM_030662.3	34	ctG/ctT	0	1	1	UPI000012F489	0		ENST00000262948		ENSG00000126934	6842		67			HGNC	p.L34L		MAP2K2		SNV			1				ENST00000262948	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15		L		A		356/1734				G5E9C7_HUMAN,B3KS97_HUMAN			YES	MAP2K2,synonymous_variant,p.=,ENST00000262948,NM_030662.3;MAP2K2,5_prime_UTR_variant,,ENST00000394867,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000599345,;							LOW	102/1203		MP2K2_HUMAN			Transcript			.	ENSP00000262948		CCDS12120.1			1	
MTR	0	LGGM	GRCh37	1	236966749	236966749	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	25	17	.	.	ENST00000366577.5:c.56G>A	p.Arg19Gln	p.R19Q	ENST00000366577	NM_000254.2	19	cGg/cAg	0	1	1	UPI0000036BC4	0	getma.org/pdb.php?prot=METH_HUMAN&from=19&to=338&var=R19Q	ENST00000366577		ENSG00000116984	7468		42	0.805		HGNC	p.R19Q	rs767724201	MTR	6.06E-05	SNV			1				ENST00000366577	protein_coding	getma.org/?cm=var&var=hg19,1,236966749,G,A&fts=all		PIRSF_domain:PIRSF000381,Gene3D:3.20.20.330,PROSITE_profiles:PS50970		R/Q		A	low	450/10529		getma.org/?cm=msa&ty=f&p=METH_HUMAN&rb=19&re=338&var=R19Q	tolerated(0.65)				YES	MTR,missense_variant,p.Arg19Gln,ENST00000366577,NM_000254.2;MTR,missense_variant,p.Arg19Gln,ENST00000535889,;MTR,intron_variant,,ENST00000418145,;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;							MODERATE	56/3798	R19Q	METH_HUMAN			Transcript		benign(0)	.	ENSP00000355536	8.24E-06	CCDS1614.1			1	
CAD	0	LGGM	GRCh37	2	27455524	27455524	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	34	18	.	.	ENST00000264705.4:c.2854G>T	p.Asp952Tyr	p.D952Y	ENST00000264705	NM_004341.3	952	Gac/Tac	0	1	1	UPI000013D558	0	getma.org/pdb.php?prot=PYR1_HUMAN&from=931&to=1042&var=D952Y	ENST00000264705		ENSG00000084774	1424		52	4.65		HGNC	p.D952Y		CAD		SNV							ENST00000264705	protein_coding	getma.org/?cm=var&var=hg19,2,27455524,G,T&fts=all		Gene3D:3.40.50.20,Pfam_domain:PF00289,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF52440,TIGRFAM_domain:TIGR01369		D/Y		T	high	3016/7265		getma.org/?cm=msa&ty=f&p=PYR1_HUMAN&rb=931&re=1042&var=D952Y	deleterious(0)	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN			YES	CAD,missense_variant,p.Asp952Tyr,ENST00000264705,NM_004341.3;CAD,missense_variant,p.Asp889Tyr,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000464159,;CAD,upstream_gene_variant,,ENST00000475695,;CAD,downstream_gene_variant,,ENST00000491891,;CAD,upstream_gene_variant,,ENST00000479002,;							MODERATE	2854/6678	D952Y	PYR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264705		CCDS1742.1			1	
OR5B12	0	LGGM	GRCh37	11	58207468	58207468	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	28	18	.	.	ENST00000302572.2:c.157C>A	p.Leu53Ile	p.L53I	ENST00000302572	NM_001004733.2	53	Ctc/Atc	0	1	1	UPI00000015B2	0	getma.org/pdb.php?prot=OR5BC_HUMAN&from=1&to=136&var=L53I	ENST00000302572		ENSG00000172362	15432		46	3.955		HGNC	p.L53I		OR5B12		SNV							ENST00000302572	protein_coding	getma.org/?cm=var&var=hg19,11,58207468,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF181,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/I		T	high	179/1054		getma.org/?cm=msa&ty=f&p=OR5BC_HUMAN&rb=1&re=136&var=L53I	deleterious_low_confidence(0)				YES	OR5B12,missense_variant,p.Leu53Ile,ENST00000302572,NM_001004733.2;							MODERATE	157/945	L53I	OR5BC_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000306657		CCDS31551.1			1	
MUC4	0	LGGM	GRCh37	3	195511630	195511630	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	230	18	.	.	ENST00000463781.3:c.6821C>A	p.Pro2274His	p.P2274H	ENST00000463781	NM_018406.6	2274	cCt/cAt	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		248	-0.55		HGNC	p.P2274H	rs760331690	MUC4	0.000131	SNV				0.00402			ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195511630,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,Low_complexity_(Seg):seg		P/H		T	neutral	7281/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=P2274H		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Pro2274His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2274His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2274His,ENST00000478156,;MUC4,missense_variant,p.Pro2274His,ENST00000466475,;MUC4,missense_variant,p.Pro2274His,ENST00000477756,;MUC4,missense_variant,p.Pro2274His,ENST00000477086,;MUC4,missense_variant,p.Pro2274His,ENST00000480843,;MUC4,missense_variant,p.Pro2274His,ENST00000462323,;MUC4,missense_variant,p.Pro2274His,ENST00000470451,;MUC4,missense_variant,p.Pro2274His,ENST00000479406,;							MODERATE	6821/16239	P2274H				Transcript		unknown(0)	common_variant	ENSP00000417498	9.98E-05	CCDS54700.1			1	
ZNF626	0	LGGM	GRCh37	19	20807941	20807941	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	41	19	.	.	ENST00000601440.1:c.742A>C	p.Lys248Gln	p.K248Q	ENST00000601440	NM_001076675.2	248	Aag/Cag	0	1	1	UPI000035E843	0	getma.org/pdb.php?prot=ZN626_HUMAN&from=243&to=266&var=K248Q	ENST00000601440		ENSG00000188171	30461		60	-0.095		HGNC	p.K248Q		ZNF626		SNV							ENST00000601440	protein_coding	getma.org/?cm=var&var=hg19,19,20807941,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/Q		G	neutral	889/5963		getma.org/?cm=msa&ty=f&p=ZN626_HUMAN&rb=223&re=286&var=K248Q	deleterious(0.02)	M0QY39_HUMAN,I0CMK8_HUMAN			YES	ZNF626,missense_variant,p.Lys248Gln,ENST00000601440,NM_001076675.2;ZNF626,downstream_gene_variant,,ENST00000595405,;CTC-513N18.7,intron_variant,,ENST00000595094,;							MODERATE	742/1587	K248Q	ZN626_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000469958		CCDS42535.1			1	
WWC2	0	LGGM	GRCh37	4	184169865	184169865	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H050603	H050603N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	7	20	.	.	ENST00000403733.3:c.733-2A>G		p.X245_splice	ENST00000403733	NM_024949.5			0	1	1	UPI000022C4C2	0		ENST00000403733		ENSG00000151718	24148		27			HGNC	-		WWC2		SNV							ENST00000403733	protein_coding							G		-/8826							YES	WWC2,splice_acceptor_variant,,ENST00000403733,NM_024949.5;WWC2,splice_acceptor_variant,,ENST00000448232,;WWC2,splice_acceptor_variant,,ENST00000513834,;WWC2,splice_acceptor_variant,,ENST00000378925,;WWC2,intron_variant,,ENST00000504005,;WWC2,splice_acceptor_variant,,ENST00000427431,;WWC2,splice_acceptor_variant,,ENST00000438543,;WWC2,downstream_gene_variant,,ENST00000508614,;							HIGH	733/3579		WWC2_HUMAN			Transcript			.	ENSP00000384222		CCDS34109.2			1	
SMG6	0	LGGM	GRCh37	17	2195881	2195881	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	58	22	.	.	ENST00000263073.6:c.2302C>G	p.Pro768Ala	p.P768A	ENST00000263073	NM_017575.4	768	Ccc/Gcc	0	1	1	UPI00002005C8	0	getma.org/pdb.php?prot=EST1A_HUMAN&from=751&to=1107&var=P768A	ENST00000263073		ENSG00000070366	17809		80	2.515		HGNC	p.P768A		SMG6		SNV							ENST00000263073	protein_coding	getma.org/?cm=var&var=hg19,17,2195881,G,C&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF10373,hmmpanther:PTHR13548,hmmpanther:PTHR13548:SF1,Superfamily_domains:SSF48452		P/A		C	medium	2353/5960		getma.org/?cm=msa&ty=f&p=EST1A_HUMAN&rb=751&re=1107&var=P768A	deleterious(0)	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN			YES	SMG6,missense_variant,p.Pro737Ala,ENST00000544865,;SMG6,missense_variant,p.Pro768Ala,ENST00000263073,NM_017575.4;							MODERATE	2302/4260	P768A	EST1A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263073		CCDS11016.1			1	
CST2	0	LGGM	GRCh37	20	23805961	23805961	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	29	23	.	.	ENST00000304725.2:c.229-1G>A		p.X77_splice	ENST00000304725	NM_001322.2			0	1	1	UPI0000128D74	0		ENST00000304725		ENSG00000170369	2474		52			HGNC	-		CST2		SNV							ENST00000304725	protein_coding							T		-/748							YES	CST2,splice_acceptor_variant,,ENST00000304725,NM_001322.2;							HIGH	229/426		CYTT_HUMAN			Transcript			.	ENSP00000307540		CCDS13161.1			1	
TAAR1	0	LGGM	GRCh37	6	132966613	132966613	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	32	25	.	.	ENST00000275216.1:c.530A>G	p.His177Arg	p.H177R	ENST00000275216	NM_138327.1	177	cAc/cGc	0	1	1	UPI000000D874	0	getma.org/pdb.php?prot=TAAR1_HUMAN&from=40&to=304&var=H177R	ENST00000275216		ENSG00000146399	17734		57	0.53		HGNC	p.H177R	rs768474190	TAAR1		SNV							ENST00000275216	protein_coding	getma.org/?cm=var&var=hg19,6,132966613,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF220,Superfamily_domains:SSF81321		H/R		C	neutral	530/1020		getma.org/?cm=msa&ty=f&p=TAAR1_HUMAN&rb=40&re=304&var=H177R	tolerated(0.58)				YES	TAAR1,missense_variant,p.His177Arg,ENST00000275216,NM_138327.1;							MODERATE	530/1020	H177R	TAAR1_HUMAN			Transcript		benign(0.014)	.	ENSP00000275216		CCDS5158.1			1	
HECTD1	0	LGGM	GRCh37	14	31604193	31604193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	51	27	.	.	ENST00000399332.1:c.3463G>T	p.Ala1155Ser	p.A1155S	ENST00000399332	NM_015382.2	1155	Gct/Tct	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		78	1.39		HGNC	p.A1155S		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31604193,C,A&fts=all		Superfamily_domains:SSF49785,Gene3D:2.60.120.260,Pfam_domain:PF07738,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75		A/S		A	low	3952/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=1107&re=1240&var=A1155S	tolerated(0.1)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Ala1155Ser,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Ala1155Ser,ENST00000553700,;HECTD1,missense_variant,p.Ala629Ser,ENST00000553957,;HECTD1,upstream_gene_variant,,ENST00000557369,;HECTD1,downstream_gene_variant,,ENST00000554850,;							MODERATE	3463/7833	A1155S	HECD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000382269		CCDS41939.1			1	
MKL2	0	LGGM	GRCh37	16	14339487	14339487	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H050603	H050603N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	60	29	.	.	ENST00000318282.5:c.1182A>C	p.Gly394=	p.G394=	ENST00000318282		394	ggA/ggC	0	1	1	UPI0000225CCB	0		ENST00000318282		ENSG00000186260	29819		89			HGNC	p.G394G		MKL2		SNV							ENST00000318282	protein_coding			hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF5		G		C		1312/8608				I3L0U1_HUMAN			YES	MKL2,synonymous_variant,p.=,ENST00000571589,NM_014048.3;MKL2,synonymous_variant,p.=,ENST00000318282,;MKL2,synonymous_variant,p.=,ENST00000341243,;MKL2,synonymous_variant,p.=,ENST00000574045,;MKL2,downstream_gene_variant,,ENST00000572567,;MKL2,downstream_gene_variant,,ENST00000573051,;MKL2,upstream_gene_variant,,ENST00000572588,;							LOW	1182/3150		MKL2_HUMAN			Transcript			.	ENSP00000339086		CCDS32391.1			1	
MYH13	0	LGGM	GRCh37	17	10227567	10227567	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	79	30	.	.	ENST00000418404.3:c.2706G>T	p.Leu902=	p.L902=	ENST00000418404		902	ctG/ctT	0	1		UPI0000DB39EA	0		ENST00000252172		ENSG00000006788	7571		109			HGNC	p.L902L		MYH13		SNV							ENST00000418404	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Gene3D:1.20.5.340,Superfamily_domains:SSF90257		L		A		2796/5992								MYH13,synonymous_variant,p.=,ENST00000418404,;MYH13,synonymous_variant,p.=,ENST00000252172,NM_003802.2;RP11-401O9.3,intron_variant,,ENST00000577743,;							LOW	2706/5817		MYH13_HUMAN			Transcript			.	ENSP00000252172		CCDS45613.1			1	
NLGN4X	0	LGGM	GRCh37	X	5811628	5811628	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050603	H050603N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	20	33	.	.	ENST00000381095.3:c.1681A>G	p.Lys561Glu	p.K561E	ENST00000381095	NM_181332.1	561	Aag/Gag	0	1		UPI0000072EC5	0	getma.org/pdb.php?prot=NLGNX_HUMAN&from=22&to=590&var=K561E	ENST00000275857		ENSG00000146938	14287		53	1.325		HGNC	p.K561E		NLGN4X		SNV			1				ENST00000275857	protein_coding	getma.org/?cm=var&var=hg19,X,5811628,T,C&fts=all		Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559		K/E		C	low	2145/5454		getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=22&re=590&var=K561E	tolerated(0.16)	B3KMT6_HUMAN				NLGN4X,missense_variant,p.Lys561Glu,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Lys581Glu,ENST00000381093,;NLGN4X,missense_variant,p.Lys561Glu,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Lys561Glu,ENST00000381092,;NLGN4X,missense_variant,p.Lys561Glu,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;							MODERATE	1681/2451	K561E	NLGNX_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000275857		CCDS14126.1			1	
TTN	0	LGGM	GRCh37	2	179453562	179453562	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	55	34	.	.	ENST00000589042.1:c.62890C>A	p.Pro20964Thr	p.P20964T	ENST00000589042	NM_001267550.1	20964	Cct/Act	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=19323&to=19415&var=P19323T	ENST00000591111		ENSG00000155657	12403		89	3.935		HGNC	p.P12024T		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179453562,G,T&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/T		T	high	58192/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=19323&re=19415&var=P19323T		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro20964Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro19323Thr,ENST00000591111,;TTN,missense_variant,p.Pro18396Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro12091Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro12024Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro11899Thr,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,;							MODERATE	57967/103053	P19323T	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GRAMD1B	0	LGGM	GRCh37	11	123481007	123481007	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050603	H050603N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	43	36	.	.	ENST00000529750.1:c.1451A>G	p.Tyr484Cys	p.Y484C	ENST00000529750	NM_020716.1	484	tAc/tGc	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		79	2.8		HGNC	p.Y491C		GRAMD1B		SNV							ENST00000456860	protein_coding	getma.org/?cm=var&var=hg19,11,123481007,A,G&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		Y/C		G	medium	1778/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=364&re=563&var=Y484C	deleterious(0)				YES	GRAMD1B,missense_variant,p.Tyr484Cys,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Tyr444Cys,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Tyr491Cys,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Tyr484Cys,ENST00000322282,;GRAMD1B,missense_variant,p.Tyr175Cys,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;							MODERATE	1451/2217	Y484C	GRM1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000436500		CCDS53720.1			1	
PER1	0	LGGM	GRCh37	17	8052583	8052583	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	53	40	.	.	ENST00000317276.4:c.899G>T	p.Arg300Leu	p.R300L	ENST00000317276	NM_002616.2	300	cGt/cTt	0	1	1	UPI000013FFF5	0	getma.org/pdb.php?prot=PER1_HUMAN&from=201&to=370&var=R300L	ENST00000317276		ENSG00000179094	8845		93	2.475		HGNC	p.R300L		PER1		SNV							ENST00000317276	protein_coding	getma.org/?cm=var&var=hg19,17,8052583,C,A&fts=all		hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8		R/L		A	medium	1137/4707		getma.org/?cm=msa&ty=f&p=PER1_HUMAN&rb=201&re=370&var=R300L	deleterious(0)	J3QLQ5_HUMAN,A2I2P6_HUMAN			YES	PER1,missense_variant,p.Arg300Leu,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Arg280Leu,ENST00000581082,;PER1,missense_variant,p.Arg284Leu,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,missense_variant,p.Arg300Leu,ENST00000582719,;PER1,missense_variant,p.Arg300Leu,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,;							MODERATE	899/3873	R300L	PER1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000314420		CCDS11131.1			1	
MUC16	0	LGGM	GRCh37	19	9058943	9058943	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050603	H050603N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	73	44	.	.	ENST00000397910.4:c.28503C>T	p.Ala9501=	p.A9501=	ENST00000397910	NM_024690.2	9501	gcC/gcT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		117			HGNC	p.A9501A		MUC16		SNV							ENST00000397910	protein_coding					A		A		28707/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	28503/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
KIAA1598	0	LGGM	GRCh37	10	118666236	118666236	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050603	H050603N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	93	55	.	.	ENST00000355371.4:c.1382G>T	p.Ser461Ile	p.S461I	ENST00000355371	NM_001258299.1	461	aGt/aTt	0	1	1	UPI0000404A8F	0	NA	ENST00000355371		ENSG00000187164	29319		148	1.7		HGNC	p.S461I		KIAA1598		SNV							ENST00000355371	protein_coding	getma.org/?cm=var&var=hg19,10,118666236,C,A&fts=all		hmmpanther:PTHR23213:SF179,hmmpanther:PTHR23213		S/I		A	low	1880/3941		getma.org/?cm=msa&ty=f&p=SHOT1_HUMAN&rb=51&re=629&var=S461I	deleterious(0.01)				YES	KIAA1598,missense_variant,p.Ser461Ile,ENST00000355371,NM_001258299.1,NM_001127211.2,NM_001258298.1;KIAA1598,missense_variant,p.Ser461Ile,ENST00000392903,;KIAA1598,missense_variant,p.Ser401Ile,ENST00000392901,NM_001258300.1;KIAA1598,intron_variant,,ENST00000260777,NM_018330.6;ENO4,intron_variant,,ENST00000369207,;KIAA1598,non_coding_transcript_exon_variant,,ENST00000497044,;							MODERATE	1382/1896	S461I	SHOT1_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000347532		CCDS44482.1			1	
FAT2	0	LGGM	GRCh37	5	150889658	150889658	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050603	H050603N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050603N.bam, H050603T.bam	Illumina HiSeq	62	68	.	.	ENST00000261800.5:c.11983T>A	p.Cys3995Ser	p.C3995S	ENST00000261800	NM_001447.2	3995	Tgc/Agc	0	1	1	UPI0000055B22	0	NA	ENST00000261800		ENSG00000086570	3596		130	4.08		HGNC	p.C3995S		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150889658,A,T&fts=all		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		C/S		T	high	11996/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=3986&re=4022&var=C3995S					YES	FAT2,missense_variant,p.Cys3995Ser,ENST00000261800,NM_001447.2;FAT2,missense_variant,p.Cys768Ser,ENST00000520200,;CTC-251D13.1,non_coding_transcript_exon_variant,,ENST00000606930,;							MODERATE	11983/13050	C3995S	FAT2_HUMAN			Transcript		benign(0.421)	.	ENSP00000261800		CCDS4317.1			1	
ACACA	0	LGGM	GRCh37	17	35640167	35640167	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	38	3	.	.	ENST00000353139.5:c.610+1G>T		p.X204_splice	ENST00000353139	NM_198834.1			0	1	1	UPI00002263AC	0		ENST00000353139		ENSG00000132142	84		41			HGNC	-		ACACA		SNV			1				ENST00000353139	protein_coding							A		-/9962				Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN			YES	ACACA,splice_donor_variant,,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,splice_donor_variant,,ENST00000360679,NM_198837.1;ACACA,splice_donor_variant,,ENST00000394406,NM_198836.1;ACACA,splice_donor_variant,,ENST00000335166,NM_198838.1;ACACA,splice_donor_variant,,ENST00000591148,;ACACA,downstream_gene_variant,,ENST00000451642,;ACACA,downstream_gene_variant,,ENST00000416895,;ACACA,downstream_gene_variant,,ENST00000413318,;ACACA,downstream_gene_variant,,ENST00000394403,;ACACA,splice_donor_variant,,ENST00000590888,;ACACA,splice_donor_variant,,ENST00000456066,;							HIGH	610/7152		ACACA_HUMAN			Transcript			.	ENSP00000344789		CCDS42302.1			1	
FER1L6	0	LGGM	GRCh37	8	124992703	124992703	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	37	3	.	.	ENST00000522917.1:c.1064-2A>T		p.X355_splice	ENST00000522917	NM_001039112.2			0	1		UPI0000E9B4AA	0		ENST00000399018		ENSG00000214814	28065		40			HGNC	-		FER1L6		SNV							ENST00000522917	protein_coding							T		-/5859								FER1L6,splice_acceptor_variant,,ENST00000522917,NM_001039112.2;FER1L6,splice_acceptor_variant,,ENST00000399018,;FER1L6-AS1,downstream_gene_variant,,ENST00000518567,;							HIGH	1064/5574		FR1L6_HUMAN			Transcript			.	ENSP00000381982		CCDS43767.1			1	
PTPRF	0	LGGM	GRCh37	1	44087647	44087647	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	46	3	.	.	ENST00000359947.4:c.5697C>T	p.Leu1899=	p.L1899=	ENST00000359947	NM_002840.3	1899	ctC/ctT	0	1	1	UPI0000470154	0		ENST00000359947		ENSG00000142949	9670		49			HGNC	p.L1899L	rs765441872,COSM216323	PTPRF		SNV			1	9.63E-05		0,1	ENST00000359947	protein_coding			Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		L		T		6037/7727	3.00E-05			G1UI20_HUMAN			YES	PTPRF,synonymous_variant,p.=,ENST00000359947,NM_002840.3;PTPRF,synonymous_variant,p.=,ENST00000372414,;PTPRF,synonymous_variant,p.=,ENST00000372413,;PTPRF,synonymous_variant,p.=,ENST00000438120,NM_130440.2;PTPRF,synonymous_variant,p.=,ENST00000429895,;PTPRF,synonymous_variant,p.=,ENST00000422171,;PTPRF,synonymous_variant,p.=,ENST00000414879,;PTPRF,synonymous_variant,p.=,ENST00000372407,;PTPRF,synonymous_variant,p.=,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,non_coding_transcript_exon_variant,,ENST00000477970,;					0,1		LOW	5697/5724		PTPRF_HUMAN			Transcript			.	ENSP00000353030	2.47E-05	CCDS489.2			1	
GPR158	0	LGGM	GRCh37	10	25888032	25888032	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	44	3	.	.	ENST00000376351.3:c.3477T>G	p.Asn1159Lys	p.N1159K	ENST00000376351	NM_020752.2	1159	aaT/aaG	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		47	0.805		HGNC	p.N1159K		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25888032,T,G&fts=all		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546		N/K		G	low	3836/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=1070&re=1215&var=N1159K	tolerated(0.66)				YES	GPR158,missense_variant,p.Asn1159Lys,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;							MODERATE	3477/3648	N1159K	GP158_HUMAN			Transcript		benign(0.001)	.	ENSP00000365529		CCDS31166.1			1	
TUBE1	0	LGGM	GRCh37	6	112396025	112396025	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	25	3	.	.	ENST00000368662.5:c.841A>G	p.Met281Val	p.M281V	ENST00000368662	NM_016262.4	281	Atg/Gtg	0	1	1	UPI0000136A4E	0	getma.org/pdb.php?prot=TBE_HUMAN&from=239&to=293&var=M281V	ENST00000368662		ENSG00000074935	20775		28	-1.37		HGNC	p.M281V		TUBE1		SNV							ENST00000368662	protein_coding	getma.org/?cm=var&var=hg19,6,112396025,T,C&fts=all		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF13,Gene3D:3.40.50.1440,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01519		M/V		C	neutral	920/2142		getma.org/?cm=msa&ty=f&p=TBE_HUMAN&rb=239&re=293&var=M281V	tolerated(1)				YES	TUBE1,missense_variant,p.Met281Val,ENST00000368662,NM_016262.4;WISP3,downstream_gene_variant,,ENST00000361714,;TUBE1,non_coding_transcript_exon_variant,,ENST00000604814,;TUBE1,downstream_gene_variant,,ENST00000441191,;TUBE1,3_prime_UTR_variant,,ENST00000605457,;TUBE1,3_prime_UTR_variant,,ENST00000604743,;TUBE1,non_coding_transcript_exon_variant,,ENST00000603651,;TUBE1,downstream_gene_variant,,ENST00000604689,;TUBE1,downstream_gene_variant,,ENST00000368657,;TUBE1,downstream_gene_variant,,ENST00000604967,;							MODERATE	841/1428	M281V	TBE_HUMAN			Transcript		benign(0.002)	.	ENSP00000357651		CCDS5100.1			1	
NFE2	0	LGGM	GRCh37	12	54686395	54686395	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	38	3	.	.	ENST00000540264.2:c.885G>C	p.Glu295Asp	p.E295D	ENST00000540264		295	gaG/gaC	0	1		UPI000012FFBA	0	NA	ENST00000312156		ENSG00000123405	7780		41	2.71		HGNC	p.E295D		NFE2		SNV							ENST00000553070	protein_coding	getma.org/?cm=var&var=hg19,12,54686395,C,G&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57959,SMART_domains:SM00338,Gene3D:1.20.5.170,Pfam_domain:PF03131,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF30,PROSITE_profiles:PS50217		E/D		G	medium	1158/1658		getma.org/?cm=msa&ty=f&p=NFE2_HUMAN&rb=265&re=327&var=E295D	deleterious(0)	F8W1N9_HUMAN,A8K3E0_HUMAN				NFE2,missense_variant,p.Glu295Asp,ENST00000540264,;NFE2,missense_variant,p.Glu295Asp,ENST00000435572,NM_001136023.2;NFE2,missense_variant,p.Glu295Asp,ENST00000312156,NM_006163.2;NFE2,missense_variant,p.Glu295Asp,ENST00000553070,NM_001261461.1;NFE2,missense_variant,p.Glu295Asp,ENST00000553198,;RP11-968A15.8,intron_variant,,ENST00000553061,;							MODERATE	885/1122	E295D	NFE2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000312436		CCDS8876.1			1	
SANBR	0	LGGM	GRCh37	2	61331122	61331122	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	44	3	.	.	ENST00000402291.1:c.1500A>G	p.Lys500=	p.K500=	ENST00000402291	NM_001129993.1	500	aaA/aaG	0	1	1	UPI0000197410	0		ENST00000402291		ENSG00000162929	29387		47			HGNC	p.K500K		KIAA1841		SNV							ENST00000295031	protein_coding			hmmpanther:PTHR20946,hmmpanther:PTHR20946:SF0		K		G		1741/4516							YES	KIAA1841,synonymous_variant,p.=,ENST00000402291,NM_001129993.1;KIAA1841,synonymous_variant,p.=,ENST00000453873,;KIAA1841,synonymous_variant,p.=,ENST00000295031,NM_032506.2;KIAA1841,synonymous_variant,p.=,ENST00000356719,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;							LOW	1500/2157		K1841_HUMAN			Transcript			.	ENSP00000385579		CCDS46296.1			1	
ZNF835	0	LGGM	GRCh37	19	57176298	57176298	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	36	3	.	.	ENST00000537055.2:c.269C>T	p.Pro90Leu	p.P90L	ENST00000537055	NM_001005850.2	90	cCg/cTg	0	1	1	UPI0000EE7244	0	NA	ENST00000537055		ENSG00000127903	34332		39	0.345		HGNC	p.P90L		ZNF835		SNV							ENST00000537055	protein_coding	getma.org/?cm=var&var=hg19,19,57176298,G,A&fts=all				P/L		A	neutral	501/2779		getma.org/?cm=msa&ty=f&p=ZN835_HUMAN&rb=1&re=145&var=P112L	tolerated(0.67)	M0QYX0_HUMAN			YES	ZNF835,missense_variant,p.Pro90Leu,ENST00000537055,NM_001005850.2;ZNF835,missense_variant,p.Pro90Leu,ENST00000601659,;							MODERATE	269/1614	P112L	ZN835_HUMAN			Transcript		benign(0.019)	.	ENSP00000444747		CCDS56105.1			1	
PTPRT	0	LGGM	GRCh37	20	40714487	40714487	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	31	3	.	.	ENST00000373198.4:c.3910A>C	p.Met1304Leu	p.M1304L	ENST00000373198	NM_133170.3	1304	Atg/Ctg	0	1	1	UPI0000246C03	0	getma.org/pdb.php?prot=PTPRT_HUMAN&from=1202&to=1436&var=M1285L	ENST00000373187		ENSG00000196090	9682		34	-1.965		HGNC	p.M1307L		PTPRT		SNV							ENST00000373198	protein_coding	getma.org/?cm=var&var=hg19,20,40714487,T,G&fts=all		PROSITE_profiles:PS50055,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799		M/L		G	neutral	3853/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=1202&re=1436&var=M1285L	tolerated(0.69)				YES	PTPRT,missense_variant,p.Met1304Leu,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Met1275Leu,ENST00000373201,;PTPRT,missense_variant,p.Met1288Leu,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Met1284Leu,ENST00000373190,;PTPRT,missense_variant,p.Met1295Leu,ENST00000373184,;PTPRT,missense_variant,p.Met1294Leu,ENST00000356100,;PTPRT,missense_variant,p.Met1285Leu,ENST00000373187,;							MODERATE	3853/4326	M1285L	PTPRT_HUMAN			Transcript		benign(0.001)	.	ENSP00000362283		CCDS42874.1			1	
ROS1	0	LGGM	GRCh37	6	117710662	117710662	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	44	3	.	.	ENST00000368508.3:c.1610T>C	p.Ile537Thr	p.I537T	ENST00000368508	NM_002944.2	537	aTa/aCa	0	1	1	UPI000013D467	0	NA	ENST00000368508		ENSG00000047936	10261		47	0.695		HGNC	p.I537T		ROS1		SNV							ENST00000368508	protein_coding	getma.org/?cm=var&var=hg19,6,117710662,A,G&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304		I/T		G	neutral	1809/7435		getma.org/?cm=msa&ty=f&p=ROS1_HUMAN&rb=401&re=600&var=I537T	tolerated(0.3)				YES	ROS1,missense_variant,p.Ile537Thr,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Ile546Thr,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;							MODERATE	1610/7044	I537T	ROS1_HUMAN			Transcript		benign(0.218)	.	ENSP00000357494		CCDS5116.1			1	
SPTBN2	0	LGGM	GRCh37	11	66472858	66472858	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	28	3	.	.	ENST00000533211.1:c.1889C>T	p.Ala630Val	p.A630V	ENST00000533211		630	gCa/gTa	0	1		UPI000013EF83	0	getma.org/pdb.php?prot=SPTN2_HUMAN&from=531&to=639&var=A630V	ENST00000309996		ENSG00000173898	11276		31	2.655		HGNC	p.A630V		SPTBN2		SNV			1				ENST00000533211	protein_coding	getma.org/?cm=var&var=hg19,11,66472858,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11915:SF205,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966		A/V		A	medium	1961/7866		getma.org/?cm=msa&ty=f&p=SPTN2_HUMAN&rb=531&re=639&var=A630V	deleterious(0.02)	E9PJZ2_HUMAN,C1KC08_HUMAN				SPTBN2,missense_variant,p.Ala630Val,ENST00000533211,;SPTBN2,missense_variant,p.Ala630Val,ENST00000529997,;SPTBN2,missense_variant,p.Ala630Val,ENST00000309996,NM_006946.2;							MODERATE	1889/7173	A630V	SPTN2_HUMAN			Transcript		benign(0.26)	.	ENSP00000311489		CCDS8150.1			1	
TSC2	0	LGGM	GRCh37	16	2136731	2136731	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	11	4	.	.	ENST00000219476.3:c.4850-2A>G		p.X1617_splice	ENST00000219476	NM_000548.3			0	1	1	UPI000013C781	0		ENST00000219476	not_provided	ENSG00000103197	12363		15			HGNC	-	rs397515315	TSC2		SNV			1			1	ENST00000219476	protein_coding							G		-/6156							YES	TSC2,splice_acceptor_variant,,ENST00000219476,NM_000548.3;TSC2,splice_acceptor_variant,,ENST00000350773,NM_001114382.1;TSC2,splice_acceptor_variant,,ENST00000353929,;TSC2,splice_acceptor_variant,,ENST00000568454,;TSC2,splice_acceptor_variant,,ENST00000401874,NM_001077183.1;TSC2,splice_acceptor_variant,,ENST00000439673,;TSC2,splice_acceptor_variant,,ENST00000382538,;TSC2,splice_acceptor_variant,,ENST00000569110,;PKD1,downstream_gene_variant,,ENST00000262304,NM_001009944.2;PKD1,downstream_gene_variant,,ENST00000423118,NM_000296.3;MIR1225,downstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;TSC2,splice_acceptor_variant,,ENST00000439117,;TSC2,splice_acceptor_variant,,ENST00000569930,;TSC2,intron_variant,,ENST00000497886,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000564313,;							HIGH	4850/5424		TSC2_HUMAN			Transcript			.	ENSP00000219476		CCDS10458.1			1	
OR8S1	0	LGGM	GRCh37	12	48920294	48920294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	30	4	.	.	ENST00000310194.1:c.880G>A	p.Glu294Lys	p.E294K	ENST00000310194	NM_001005203.2	294	Gaa/Aaa	0	1	1	UPI000013EFC1	0	NA	ENST00000310194		ENSG00000197376	19628		34	0		HGNC	p.E294K	COSM222242	OR8S1		SNV						1	ENST00000310194	protein_coding	getma.org/?cm=var&var=hg19,12,48920294,G,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF239,Superfamily_domains:SSF81321		E/K		A	neutral	880/1080		getma.org/?cm=msa&ty=f&p=OR8S1_HUMAN&rb=282&re=359&var=E294K	deleterious(0.01)				YES	OR8S1,missense_variant,p.Glu294Lys,ENST00000310194,NM_001005203.2;OR8S1,intron_variant,,ENST00000551654,;					1		MODERATE	880/1080	E294K	OR8S1_HUMAN			Transcript		benign(0.38)	.	ENSP00000310632		CCDS31789.1			1	
BRD8	0	LGGM	GRCh37	5	137513338	137513338	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	68	4	.	.	ENST00000254900.5:c.38C>G	p.Thr13Ser	p.T13S	ENST00000254900	NM_139199.1	13	aCt/aGt	0	1	1	UPI0000246C01	0	NA	ENST00000254900		ENSG00000112983	19874		72	0		HGNC	p.T8S		BRD8		SNV							ENST00000418329	protein_coding	getma.org/?cm=var&var=hg19,5,137513338,G,C&fts=all		hmmpanther:PTHR15398,hmmpanther:PTHR15398:SF1		T/S		C	neutral	410/4388		getma.org/?cm=msa&ty=f&p=BRD8_HUMAN&rb=1&re=39&var=T13S	tolerated(0.08)	F8WDX5_HUMAN,F8WBH2_HUMAN			YES	BRD8,missense_variant,p.Thr13Ser,ENST00000254900,NM_139199.1;BRD8,missense_variant,p.Thr13Ser,ENST00000230901,NM_006696.3;BRD8,missense_variant,p.Thr8Ser,ENST00000454473,;BRD8,missense_variant,p.Thr13Ser,ENST00000402931,;BRD8,missense_variant,p.Thr13Ser,ENST00000411594,NM_001164326.1;BRD8,missense_variant,p.Thr8Ser,ENST00000418329,;BRD8,missense_variant,p.Thr7Ser,ENST00000441656,;BRD8,missense_variant,p.Thr13Ser,ENST00000430331,;BRD8,5_prime_UTR_variant,,ENST00000455658,;KIF20A,upstream_gene_variant,,ENST00000394894,NM_005733.2;KIF20A,upstream_gene_variant,,ENST00000508792,;KIF20A,upstream_gene_variant,,ENST00000504621,;KIF20A,upstream_gene_variant,,ENST00000513276,;BRD8,non_coding_transcript_exon_variant,,ENST00000425764,;BRD8,missense_variant,p.Thr13Ser,ENST00000512140,;BRD8,missense_variant,p.Thr13Ser,ENST00000432618,;BRD8,missense_variant,p.Thr13Ser,ENST00000428808,;BRD8,missense_variant,p.Thr13Ser,ENST00000450756,;BRD8,non_coding_transcript_exon_variant,,ENST00000515254,;BRD8,non_coding_transcript_exon_variant,,ENST00000471437,;KIF20A,upstream_gene_variant,,ENST00000511638,;KIF20A,upstream_gene_variant,,ENST00000503417,;							MODERATE	38/3708	T13S	BRD8_HUMAN			Transcript		benign(0.13)	.	ENSP00000254900		CCDS4198.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103058285	103058285	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	53	4	.	.	ENST00000398093.3:c.7110G>A	p.Gly2370=	p.G2370=	ENST00000398093		2370	ggG/ggA	0	1		UPI0000418CA2	0		ENST00000375735		ENSG00000187240	2962		57			HGNC	p.G2370G		DYNC2H1		SNV			1				ENST00000375735	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,SMART_domains:SM00382,Superfamily_domains:SSF52540		G		A		7254/13678								DYNC2H1,synonymous_variant,p.=,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,synonymous_variant,p.=,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;							LOW	7110/12924		DYHC2_HUMAN			Transcript			.	ENSP00000364887		CCDS53701.1			1	
NR5A2	0	LGGM	GRCh37	1	200017829	200017829	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	91	4	.	.	ENST00000367362.3:c.993T>C	p.Ala331=	p.A331=	ENST00000367362	NM_205860.2	331	gcT/gcC	0	1	1	UPI0000130482	0		ENST00000367362		ENSG00000116833	7984		95			HGNC	p.A285A		NR5A2		SNV							ENST00000236914	protein_coding			Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002530,hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18,Superfamily_domains:SSF48508		A		C		1239/5086				Q8WY08_HUMAN,B4E2P3_HUMAN			YES	NR5A2,synonymous_variant,p.=,ENST00000367362,NM_205860.2;NR5A2,synonymous_variant,p.=,ENST00000236914,NM_003822.4;NR5A2,synonymous_variant,p.=,ENST00000544748,NM_001276464.1;NR5A2,synonymous_variant,p.=,ENST00000367357,;NR5A2,downstream_gene_variant,,ENST00000474307,;							LOW	993/1626		NR5A2_HUMAN			Transcript			.	ENSP00000356331		CCDS1401.1			1	
ABCB4	0	LGGM	GRCh37	7	87031455	87031455	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	68	4	.	.	ENST00000265723.4:c.3818A>G	p.Tyr1273Cys	p.Y1273C	ENST00000265723	NM_000443.3	1273	tAt/tGt	0	1	1	UPI000013D66B	0	getma.org/pdb.php?prot=MDR3_HUMAN&from=1034&to=1279&var=Y1273C	ENST00000265723		ENSG00000005471	45		72	2.995		HGNC	p.Y1266C	rs761251625	ABCB4		SNV			1				ENST00000545634	protein_coding	getma.org/?cm=var&var=hg19,7,87031455,T,C&fts=all		PROSITE_profiles:PS50893,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		Y/C		C	medium	3930/4020	1.50E-05	getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=1034&re=1279&var=Y1273C	deleterious(0)	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN			YES	ABCB4,missense_variant,p.Tyr1273Cys,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Tyr1266Cys,ENST00000359206,;ABCB4,missense_variant,p.Tyr1266Cys,ENST00000545634,;ABCB4,missense_variant,p.Tyr1219Cys,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Tyr1219Cys,ENST00000453593,;ABCB4,missense_variant,p.Tyr78Cys,ENST00000440025,;CROT,downstream_gene_variant,,ENST00000331536,NM_021151.3;CROT,downstream_gene_variant,,ENST00000419147,NM_001143935.1;CROT,downstream_gene_variant,,ENST00000442291,;ABCB4,non_coding_transcript_exon_variant,,ENST00000467983,;ABCB4,downstream_gene_variant,,ENST00000467079,;							MODERATE	3818/3861	Y1273C	MDR3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265723	8.24E-06	CCDS5606.1			1	
BOD1L1	0	LGGM	GRCh37	4	13616207	13616207	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	88	4	.	.	ENST00000040738.5:c.787A>T	p.Thr263Ser	p.T263S	ENST00000040738	NM_148894.2	263	Aca/Tca	0	1	1	UPI000066D9E3	0	NA	ENST00000040738		ENSG00000038219	31792		92	1.59		HGNC	p.T263S		BOD1L1		SNV							ENST00000040738	protein_coding	getma.org/?cm=var&var=hg19,4,13616207,T,A&fts=all		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		T/S		A	low	923/10565		getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=171&re=609&var=T263S					YES	BOD1L1,missense_variant,p.Thr263Ser,ENST00000040738,NM_148894.2;BOD1L1,3_prime_UTR_variant,,ENST00000482713,;							MODERATE	787/9156	T263S	BD1L1_HUMAN			Transcript		benign(0.003)	.	ENSP00000040738		CCDS3411.2			1	
OR51H1P	0	LGGM	GRCh37	11	4881750	4881750	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	56	4	.	.	ENST00000322059.1:c.45T>A	p.Ile15=	p.I15=	ENST00000322059		15	atT/atA	0	1	1	UPI0000061F03	0		ENST00000322059		ENSG00000176904	14833		60			HGNC	p.I15I		OR51H1P		SNV							ENST00000322059	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF53,Superfamily_domains:SSF81321		I		T		45/909							YES	OR51H1P,synonymous_variant,p.=,ENST00000322059,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							LOW	45/909		O51H1_HUMAN			Transcript			.	ENSP00000322724					1	
VOPP1	0	LGGM	GRCh37	7	55629722	55629722	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	80	4	.	.	ENST00000285279.5:c.54+10242A>T		*18*	ENST00000285279	NM_030796.3			0	1	1	UPI000006F3B3	0		ENST00000285279		ENSG00000154978	34518		84			HGNC	p.X26L		VOPP1		SNV							ENST00000453112	protein_coding							A		-/2962				C9JTY8_HUMAN,C9JQ18_HUMAN,C9JIM1_HUMAN,C9JF99_HUMAN,C9J548_HUMAN			YES	VOPP1,5_prime_UTR_variant,,ENST00000427700,;VOPP1,intron_variant,,ENST00000285279,NM_030796.3;VOPP1,intron_variant,,ENST00000428648,;VOPP1,intron_variant,,ENST00000452832,;VOPP1,intron_variant,,ENST00000471168,;VOPP1,intron_variant,,ENST00000462326,;VOPP1,stop_lost,p.Ter26LeuextTer33,ENST00000453112,;							MODIFIER	-/519		VOPP1_HUMAN			Transcript			.	ENSP00000285279		CCDS47588.1			1	
REN	0	LGGM	GRCh37	1	204124250	204124250	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	15	4	.	.	ENST00000272190.8:c.1115C>T	p.Pro372Leu	p.P372L	ENST00000272190	NM_000537.3	372	cCg/cTg	0	1	1	UPI000000091F	0	getma.org/pdb.php?prot=RENI_HUMAN&from=85&to=405&var=P372L	ENST00000272190		ENSG00000143839	9958		19	2.45		HGNC	p.P372L	rs780953687	REN		SNV			1				ENST00000272190	protein_coding	getma.org/?cm=var&var=hg19,1,204124250,G,A&fts=all		hmmpanther:PTHR13683:SF77,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630		P/L		A	medium	1144/1447	1.50E-05	getma.org/?cm=msa&ty=f&p=RENI_HUMAN&rb=85&re=405&var=P372L	deleterious(0)	Q9UQK5_HUMAN			YES	REN,missense_variant,p.Pro369Leu,ENST00000367195,;REN,missense_variant,p.Pro372Leu,ENST00000272190,NM_000537.3;ETNK2,upstream_gene_variant,,ENST00000367199,;ETNK2,upstream_gene_variant,,ENST00000367202,NM_018208.2;ETNK2,upstream_gene_variant,,ENST00000367201,;ETNK2,upstream_gene_variant,,ENST00000429525,;							MODERATE	1115/1221	P372L	RENI_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000272190	8.24E-06	CCDS30981.1			1	
PCDH17	0	LGGM	GRCh37	13	58298893	58298893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	42	4	.	.	ENST00000377918.3:c.2945T>C	p.Val982Ala	p.V982A	ENST00000377918	NM_001040429.2	982	gTt/gCt	0	1	1	UPI00001FCE5B	0	NA	ENST00000377918		ENSG00000118946	14267		46	0.83		HGNC	p.V982A		PCDH17		SNV							ENST00000377918	protein_coding	getma.org/?cm=var&var=hg19,13,58298893,T,C&fts=all				V/A		C	low	2971/7523		getma.org/?cm=msa&ty=f&p=PCD17_HUMAN&rb=751&re=1157&var=V982A	tolerated(0.42)				YES	PCDH17,missense_variant,p.Val982Ala,ENST00000377918,NM_001040429.2;PCDH17,3_prime_UTR_variant,,ENST00000484979,;							MODERATE	2945/3480	V982A	PCD17_HUMAN			Transcript		benign(0.003)	.	ENSP00000367151		CCDS31986.1			1	
PLCB1	0	LGGM	GRCh37	20	8755337	8755337	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	53	4	.	.	ENST00000338037.6:c.3082A>G	p.Lys1028Glu	p.K1028E	ENST00000338037	NM_015192.3	1028	Aaa/Gaa	0	1	1	UPI0000131A8F	0	getma.org/pdb.php?prot=PLCB1_HUMAN&from=997&to=1183&var=K1028E	ENST00000338037		ENSG00000182621	15917		57	1.78		HGNC	p.K1028E		PLCB1		SNV			1				ENST00000378641	protein_coding	getma.org/?cm=var&var=hg19,20,8755337,A,G&fts=all		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF08703,Gene3D:1jadA00,PIRSF_domain:PIRSF000956,Superfamily_domains:0053448		K/E		G	low	3109/6729		getma.org/?cm=msa&ty=f&p=PLCB1_HUMAN&rb=997&re=1183&var=K1028E	tolerated(0.26)				YES	PLCB1,missense_variant,p.Lys1028Glu,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Lys1028Glu,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Lys1028Glu,ENST00000378637,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Lys769Glu,ENST00000487210,;							MODERATE	3082/3651	K1028E	PLCB1_HUMAN			Transcript		benign(0.326)	.	ENSP00000338185		CCDS13102.1			1	
SCN2A	0	LGGM	GRCh37	2	166210890	166210890	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	71	4	.	.	ENST00000357398.3:c.3108A>T	p.Leu1036Phe	p.L1036F	ENST00000357398		1036	ttA/ttT	0	1		UPI00001279C9	0	NA	ENST00000283256		ENSG00000136531	10588		75	2.295		HGNC	p.L1036F		SCN2A		SNV			1				ENST00000283256	protein_coding	getma.org/?cm=var&var=hg19,2,166210890,A,T&fts=all		Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133		L/F		T	medium	3264/8403		getma.org/?cm=msa&ty=f&p=SCN2A_HUMAN&rb=997&re=1218&var=L1036F	tolerated(0.06)	F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,missense_variant,p.Leu1036Phe,ENST00000357398,;SCN2A,missense_variant,p.Leu1036Phe,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Leu1036Phe,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Leu1036Phe,ENST00000375427,NM_001040143.1;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;							MODERATE	3108/6018	L1036F	SCN2A_HUMAN			Transcript		benign(0.367)	.	ENSP00000283256		CCDS33314.1			1	
SPATA18	0	LGGM	GRCh37	4	52948613	52948613	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	81	4	.	.	ENST00000295213.4:c.1416T>A	p.Pro472=	p.P472=	ENST00000295213	NM_145263.2	472	ccT/ccA	0	1	1	UPI000006FB0D	0		ENST00000295213		ENSG00000163071	29579		85			HGNC	p.P472P		SPATA18		SNV							ENST00000505320	protein_coding			hmmpanther:PTHR21771,hmmpanther:PTHR21771:SF0		P		A		1790/4396							YES	SPATA18,synonymous_variant,p.=,ENST00000295213,NM_145263.2;SPATA18,synonymous_variant,p.=,ENST00000419395,;SPATA18,synonymous_variant,p.=,ENST00000505320,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;SPATA18,downstream_gene_variant,,ENST00000510549,;							LOW	1416/1617		MIEAP_HUMAN			Transcript			.	ENSP00000295213		CCDS3489.1			1	
CFAP95	0	LGGM	GRCh37	9	72521027	72521027	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	42	4	.	.	ENST00000377197.3:c.665C>A	p.Thr222Asn	p.T222N	ENST00000377197	NM_001010940.1	222	aCt/aAt	0	1	1	UPI00001AEC57	0	NA	ENST00000377197		ENSG00000204711	31422		46	1.525		HGNC	p.T222N		C9orf135		SNV							ENST00000377197	protein_coding	getma.org/?cm=var&var=hg19,9,72521027,C,A&fts=all				T/N		A	low	752/873		getma.org/?cm=msa&ty=f&p=CI135_HUMAN&rb=182&re=229&var=T222N	deleterious(0.01)	E9PIA3_HUMAN			YES	C9orf135,missense_variant,p.Thr222Asn,ENST00000377197,NM_001010940.1;C9orf135,3_prime_UTR_variant,,ENST00000527647,;C9orf135,non_coding_transcript_exon_variant,,ENST00000466872,;C9orf135,3_prime_UTR_variant,,ENST00000529131,;C9orf135,3_prime_UTR_variant,,ENST00000529446,;							MODERATE	665/690	T222N	CI135_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000366402		CCDS35041.1			1	
ZSWIM1	0	LGGM	GRCh37	20	44512027	44512027	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	45	4	.	.	ENST00000372523.1:c.796A>G	p.Ser266Gly	p.S266G	ENST00000372523	NM_080603.4	266	Agc/Ggc	0	1		UPI0000470896	0	NA	ENST00000372520		ENSG00000168612	16155		49	0.975		HGNC	p.S266G		ZSWIM1		SNV							ENST00000372520	protein_coding	getma.org/?cm=var&var=hg19,20,44512027,A,G&fts=all		hmmpanther:PTHR31569,hmmpanther:PTHR31569:SF0		S/G		G	low	877/2168		getma.org/?cm=msa&ty=f&p=ZSWM1_HUMAN&rb=201&re=371&var=S266G	deleterious(0)	A8K5I9_HUMAN				ZSWIM1,missense_variant,p.Ser266Gly,ENST00000372523,NM_080603.4;ZSWIM1,missense_variant,p.Ser266Gly,ENST00000372520,;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3;ZSWIM3,downstream_gene_variant,,ENST00000454862,;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3;							MODERATE	796/1458	S266G	ZSWM1_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000361598		CCDS13382.2			1	
CD96	0	LGGM	GRCh37	3	111317003	111317003	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	71	4	.	.	ENST00000283285.5:c.892A>T	p.Lys298Ter	p.K298*	ENST00000283285	NM_198196.2	298	Aaa/Taa	0	1	1	UPI000013DD36	0	NA	ENST00000283285		ENSG00000153283	16892		75	0		HGNC	p.K282X		CD96		SNV			1				ENST00000438817	protein_coding	getma.org/?cm=var&var=hg19,3,111317003,A,T&fts=all		Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0		K/*		T	NA	1023/4324		NA		U3KPT0_HUMAN			YES	CD96,stop_gained,p.Lys282Ter,ENST00000352690,NM_005816.4;CD96,stop_gained,p.Lys298Ter,ENST00000283285,NM_198196.2;CD96,stop_gained,p.Lys282Ter,ENST00000438817,;ZBED2,upstream_gene_variant,,ENST00000317012,NM_024508.4;CD96,stop_gained,p.Lys282Ter,ENST00000494798,;							HIGH	892/1758	K298*	TACT_HUMAN			Transcript			.	ENSP00000283285		CCDS2959.1			1	
NFU1	0	LGGM	GRCh37	2	69642412	69642412	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	48	4	.	.	ENST00000410022.2:c.389G>A	p.Trp130Ter	p.W130*	ENST00000410022	NM_001002755.2	130	tGg/tAg	0	1	1	UPI00001B3DAF	0	NA	ENST00000410022		ENSG00000169599	16287		52	0		HGNC	p.W130X	rs759609855	NFU1		SNV			1				ENST00000410022	protein_coding	getma.org/?cm=var&var=hg19,2,69642412,C,T&fts=all		Superfamily_domains:0042426,Gene3D:2ffmA00,Pfam_domain:PF08712,PIRSF_domain:PIRSF036773,hmmpanther:PTHR11178,hmmpanther:PTHR11178:SF1,SMART_domains:SM00932		W/*		T	NA	595/1467	1.70E-05	NA		F8W9P7_HUMAN,C9J8Q1_HUMAN			YES	NFU1,stop_gained,p.Trp130Ter,ENST00000410022,NM_001002755.2;NFU1,stop_gained,p.Trp106Ter,ENST00000303698,NM_015700.3;NFU1,5_prime_UTR_variant,,ENST00000394305,NM_001002756.2;NFU1,5_prime_UTR_variant,,ENST00000484177,;NFU1,5_prime_UTR_variant,,ENST00000450796,;NFU1,5_prime_UTR_variant,,ENST00000462320,;NFU1,non_coding_transcript_exon_variant,,ENST00000471185,;NFU1,stop_gained,p.Trp7Ter,ENST00000474230,;NFU1,3_prime_UTR_variant,,ENST00000419370,;NFU1,3_prime_UTR_variant,,ENST00000438184,;							HIGH	389/765	W130*	NFU1_HUMAN			Transcript			.	ENSP00000387219	8.24E-06	CCDS33217.1			1	
PCDH9	0	LGGM	GRCh37	13	67800949	67800949	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	86	4	.	.	ENST00000544246.1:c.1624G>A	p.Val542Ile	p.V542I	ENST00000544246	NM_203487.2	542	Gta/Ata	0	1		UPI00001FCE90	0	getma.org/pdb.php?prot=PCDH9_HUMAN&from=474&to=563&var=V542I	ENST00000377865		ENSG00000184226	8661		90	1.055		HGNC	p.V542I		PCDH9		SNV							ENST00000377861	protein_coding	getma.org/?cm=var&var=hg19,13,67800949,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		V/I		T	low	1759/5667		getma.org/?cm=msa&ty=f&p=PCDH9_HUMAN&rb=474&re=563&var=V542I	tolerated(0.06)					PCDH9,missense_variant,p.Val542Ile,ENST00000544246,NM_203487.2;PCDH9,missense_variant,p.Val542Ile,ENST00000456367,NM_020403.4;PCDH9,missense_variant,p.Val542Ile,ENST00000377865,;PCDH9,missense_variant,p.Val542Ile,ENST00000377861,;PCDH9,missense_variant,p.Val542Ile,ENST00000328454,;							MODERATE	1624/3714	V542I	PCDH9_HUMAN			Transcript		benign(0.437)	.	ENSP00000367096		CCDS9444.1			1	
ZNF609	0	LGGM	GRCh37	15	64970592	64970592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	72	4	.	.	ENST00000326648.3:c.3680A>G	p.Tyr1227Cys	p.Y1227C	ENST00000326648	NM_015042.1	1227	tAc/tGc	0	1	1	UPI00001D7783	0	NA	ENST00000326648		ENSG00000180357	29003		76	2.05		HGNC	p.Y1227C		ZNF609		SNV							ENST00000326648	protein_coding	getma.org/?cm=var&var=hg19,15,64970592,A,G&fts=all		hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3		Y/C		G	medium	3808/8743		getma.org/?cm=msa&ty=f&p=ZN609_HUMAN&rb=540&re=1409&var=Y1227C	deleterious(0)				YES	ZNF609,missense_variant,p.Tyr1227Cys,ENST00000326648,NM_015042.1;ZNF609,downstream_gene_variant,,ENST00000559364,;							MODERATE	3680/4236	Y1227C	ZN609_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000316527		CCDS32270.1			1	
C9orf3	0	LGGM	GRCh37	9	97718248	97718248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	82	4	.	.	ENST00000375315.2:c.1823T>C	p.Phe608Ser	p.F608S	ENST00000375315	NM_001193329.1	608	tTt/tCt	0	1	1	UPI0000211ACC	0	getma.org/pdb.php?prot=AMPO_HUMAN&from=450&to=612&var=F608S	ENST00000375315		ENSG00000148120	1361		86	1.22		HGNC	p.F608S		C9orf3		SNV							ENST00000375315	protein_coding	getma.org/?cm=var&var=hg19,9,97718248,T,C&fts=all		Superfamily_domains:SSF55486,Pfam_domain:PF13485,Gene3D:1.10.390.10,hmmpanther:PTHR11533:SF151,hmmpanther:PTHR11533		F/S		C	low	1823/2941		getma.org/?cm=msa&ty=f&p=AMPO_HUMAN&rb=450&re=612&var=F608S	tolerated(0.21)	B4DKZ8_HUMAN			YES	C9orf3,missense_variant,p.Phe608Ser,ENST00000375315,NM_001193329.1;C9orf3,missense_variant,p.Phe509Ser,ENST00000297979,NM_032823.5;C9orf3,missense_variant,p.Phe390Ser,ENST00000428313,;C9orf3,missense_variant,p.Phe332Ser,ENST00000424143,;C9orf3,missense_variant,p.Phe8Ser,ENST00000451893,;C9orf3,non_coding_transcript_exon_variant,,ENST00000462125,;C9orf3,non_coding_transcript_exon_variant,,ENST00000479161,;							MODERATE	1823/2460	F608S	AMPO_HUMAN			Transcript		benign(0.12)	.	ENSP00000364464		CCDS55328.1			1	
MAP3K19	0	LGGM	GRCh37	2	135738976	135738976	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	79	4	.	.	ENST00000375845.3:c.3335T>C	p.Val1112Ala	p.V1112A	ENST00000375845	NM_025052.3	1112	gTa/gCa	0	1	1	UPI00004F77F2	0	getma.org/pdb.php?prot=YSK4_HUMAN&from=1061&to=1324&var=V1112A	ENST00000375845		ENSG00000176601	26249		83	1.32		HGNC	p.V502A		MAP3K19		SNV							ENST00000437365	protein_coding	getma.org/?cm=var&var=hg19,2,135738976,A,G&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/A		G	low	3366/4377		getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=1061&re=1324&var=V1112A	deleterious(0)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN			YES	MAP3K19,missense_variant,p.Val1112Ala,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Val999Ala,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Val502Ala,ENST00000437365,;MAP3K19,missense_variant,p.Val294Ala,ENST00000375844,NM_001018046.1;MAP3K19,missense_variant,p.Val246Ala,ENST00000392918,NM_001018047.2;MAP3K19,missense_variant,p.Val244Ala,ENST00000392917,NM_001282883.1;MAP3K19,3_prime_UTR_variant,,ENST00000392915,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,non_coding_transcript_exon_variant,,ENST00000478805,;							MODERATE	3335/3987	V1112A	M3K19_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000365005		CCDS2176.2			1	
NR5A2	0	LGGM	GRCh37	1	200017825	200017825	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	87	4	.	.	ENST00000367362.3:c.989A>T	p.Gln330Leu	p.Q330L	ENST00000367362	NM_205860.2	330	cAg/cTg	0	1	1	UPI0000130482	0	getma.org/pdb.php?prot=NR5A2_HUMAN&from=324&to=535&var=Q330L	ENST00000367362		ENSG00000116833	7984		91	2.6		HGNC	p.Q284L		NR5A2		SNV							ENST00000236914	protein_coding	getma.org/?cm=var&var=hg19,1,200017825,A,T&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00104,PIRSF_domain:PIRSF002530,hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18,Superfamily_domains:SSF48508		Q/L		T	medium	1235/5086		getma.org/?cm=msa&ty=f&p=NR5A2_HUMAN&rb=324&re=535&var=Q330L	tolerated(0.12)	Q8WY08_HUMAN,B4E2P3_HUMAN			YES	NR5A2,missense_variant,p.Gln330Leu,ENST00000367362,NM_205860.2;NR5A2,missense_variant,p.Gln284Leu,ENST00000236914,NM_003822.4;NR5A2,missense_variant,p.Gln258Leu,ENST00000544748,NM_001276464.1;NR5A2,missense_variant,p.Gln251Leu,ENST00000367357,;NR5A2,downstream_gene_variant,,ENST00000474307,;							MODERATE	989/1626	Q330L	NR5A2_HUMAN			Transcript		benign(0.29)	.	ENSP00000356331		CCDS1401.1			1	
MUC4	0	LGGM	GRCh37	3	195507386	195507386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	45	4	.	.	ENST00000463781.3:c.11065G>A	p.Ala3689Thr	p.A3689T	ENST00000463781	NM_018406.6	3689	Gca/Aca	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		49	0		HGNC	p.A3689T	rs759242122	MUC4	0.000213	SNV							ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195507386,C,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		A/T		T	neutral	11525/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=A3689T		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Ala3689Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3689Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3689Thr,ENST00000478156,;MUC4,missense_variant,p.Ala3689Thr,ENST00000466475,;MUC4,missense_variant,p.Ala3689Thr,ENST00000477756,;MUC4,missense_variant,p.Ala3689Thr,ENST00000477086,;MUC4,missense_variant,p.Ala3689Thr,ENST00000480843,;MUC4,missense_variant,p.Ala3689Thr,ENST00000462323,;MUC4,missense_variant,p.Ala3689Thr,ENST00000470451,;MUC4,missense_variant,p.Ala3689Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	11065/16239	A3689T				Transcript		possibly_damaging(0.583)	.	ENSP00000417498	5.24E-05	CCDS54700.1			1	
AGBL5	0	LGGM	GRCh37	2	27292533	27292533	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	81	5	.	.	ENST00000360131.4:c.2448G>A	p.Glu816=	p.E816=	ENST00000360131	NM_021831.5	816	gaG/gaA	0	1	1	UPI000006FE54	0		ENST00000360131		ENSG00000084693	26147		86			HGNC	p.E816E		AGBL5		SNV							ENST00000360131	protein_coding			hmmpanther:PTHR12756		E		A		2607/3177				C9JTY1_HUMAN,C9JQG9_HUMAN,C9JHM6_HUMAN,C9JCE1_HUMAN			YES	AGBL5,synonymous_variant,p.=,ENST00000360131,NM_021831.5;OST4,downstream_gene_variant,,ENST00000456793,NM_001134693.1;OST4,downstream_gene_variant,,ENST00000429985,;AGBL5,downstream_gene_variant,,ENST00000441931,;OST4,downstream_gene_variant,,ENST00000447619,;AGBL5,3_prime_UTR_variant,,ENST00000487078,;							LOW	2448/2661		CBPC5_HUMAN			Transcript			.	ENSP00000353249		CCDS1732.3			1	
ALX1	0	LGGM	GRCh37	12	85680752	85680752	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	60	5	.	.	ENST00000316824.3:c.653A>T	p.Tyr218Phe	p.Y218F	ENST00000316824	NM_006982.2	218	tAc/tTc	0	1	1	UPI000013FEBD	0	NA	ENST00000316824		ENSG00000180318	1494		65	1.975		HGNC	p.Y218F		ALX1		SNV			1				ENST00000316824	protein_coding	getma.org/?cm=var&var=hg19,12,85680752,A,T&fts=all		hmmpanther:PTHR24329:SF277,hmmpanther:PTHR24329		Y/F		T	medium	808/1445		getma.org/?cm=msa&ty=f&p=ALX1_HUMAN&rb=190&re=300&var=Y218F	deleterious(0.02)				YES	ALX1,missense_variant,p.Tyr218Phe,ENST00000316824,NM_006982.2;							MODERATE	653/981	Y218F	ALX1_HUMAN			Transcript		benign(0.026)	.	ENSP00000315417		CCDS9028.1			1	
COL1A2	0	LGGM	GRCh37	7	94057007	94057007	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	67	5	.	.	ENST00000297268.6:c.3336C>A	p.Tyr1112Ter	p.Y1112*	ENST00000297268	NM_000089.3	1112	taC/taA	0	1	1	UPI00003B0CFC	0	NA	ENST00000297268		ENSG00000164692	2198		72	0		HGNC	p.Y1112X		COL1A2		SNV			1				ENST00000297268	protein_coding	getma.org/?cm=var&var=hg19,7,94057007,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441		Y/*		A	NA	3807/5411		NA		Q75N18_HUMAN,A2TIK1_HUMAN			YES	COL1A2,stop_gained,p.Tyr1112Ter,ENST00000297268,NM_000089.3;COL1A2,non_coding_transcript_exon_variant,,ENST00000481570,;COL1A2,non_coding_transcript_exon_variant,,ENST00000464916,;COL1A2,downstream_gene_variant,,ENST00000497316,;COL1A2,downstream_gene_variant,,ENST00000478215,;COL1A2,downstream_gene_variant,,ENST00000469732,;COL1A2,downstream_gene_variant,,ENST00000492110,;COL1A2,downstream_gene_variant,,ENST00000488121,;							HIGH	3336/4101	Y1112*	CO1A2_HUMAN			Transcript			.	ENSP00000297268		CCDS34682.1			1	
DPP6	0	LGGM	GRCh37	7	153749914	153749914	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	28	5	.	.	ENST00000377770.3:c.9G>T	p.Ser3=	p.S3=	ENST00000377770		3	tcG/tcT	0	1	1	UPI00001AE746	0		ENST00000377770		ENSG00000130226	3010		33			HGNC	p.S3S		DPP6		SNV			1				ENST00000377770	protein_coding					S		T		150/3710				Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,synonymous_variant,p.=,ENST00000377770,;DPP6,synonymous_variant,p.=,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;AC006019.3,downstream_gene_variant,,ENST00000425591,;							LOW	Sep-98		DPP6_HUMAN			Transcript			.	ENSP00000367001					1	
KCTD8	0	LGGM	GRCh37	4	44176865	44176865	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	90	5	.	.	ENST00000360029.3:c.1364A>G	p.Tyr455Cys	p.Y455C	ENST00000360029	NM_198353.2	455	tAt/tGt	0	1	1	UPI00001C08D6	0	NA	ENST00000360029		ENSG00000183783	22394		95	0		HGNC	p.Y455C		KCTD8		SNV							ENST00000360029	protein_coding	getma.org/?cm=var&var=hg19,4,44176865,T,C&fts=all		hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499		Y/C		C	neutral	1648/2587		getma.org/?cm=msa&ty=f&p=KCTD8_HUMAN&rb=329&re=471&var=Y455C	tolerated(0.18)	B4DQJ9_HUMAN			YES	KCTD8,missense_variant,p.Tyr455Cys,ENST00000360029,NM_198353.2;KCTD8,downstream_gene_variant,,ENST00000515268,;							MODERATE	1364/1422	Y455C	KCTD8_HUMAN			Transcript		benign(0.001)	.	ENSP00000353129		CCDS3467.1			1	
SI	0	LGGM	GRCh37	3	164727121	164727121	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	72	5	.	.	ENST00000264382.3:c.4125C>T	p.Ala1375=	p.A1375=	ENST00000264382	NM_001041.3	1375	gcC/gcT	0	1	1	UPI000022C287	0		ENST00000264382		ENSG00000090402	10856		77			HGNC	p.A1375A		SI		SNV			1				ENST00000264382	protein_coding			Superfamily_domains:SSF51445,Pfam_domain:PF01055		A		A		4188/6011							YES	SI,synonymous_variant,p.=,ENST00000264382,NM_001041.3;							LOW	4125/5484		SUIS_HUMAN			Transcript			.	ENSP00000264382		CCDS3196.1			1	
DDX31	0	LGGM	GRCh37	9	135523908	135523908	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	84	5	.	.	ENST00000372159.3:c.1086A>T	p.Ser362=	p.S362=	ENST00000372159	NM_022779.7	362	tcA/tcT	0	1		UPI0000551C77	0		ENST00000372153		ENSG00000125485	16715		89			HGNC	p.S362S		DDX31		SNV							ENST00000372155	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF89,PROSITE_profiles:PS51192		S		A		1238/3066								DDX31,synonymous_variant,p.=,ENST00000372159,NM_022779.7;DDX31,synonymous_variant,p.=,ENST00000372153,;DDX31,synonymous_variant,p.=,ENST00000438527,;DDX31,synonymous_variant,p.=,ENST00000310532,NM_138620.1;							LOW	1086/2337		DDX31_HUMAN			Transcript			.	ENSP00000361226					1	
SMPD1	0	LGGM	GRCh37	11	6415640	6415640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	64	5	.	.	ENST00000342245.4:c.1699C>A	p.Gln567Lys	p.Q567K	ENST00000342245	NM_001007593.2	567	Caa/Aaa	0	1	1	UPI000013E592	0	NA	ENST00000342245		ENSG00000166311	11120		69	0.69		HGNC	p.Q566K		SMPD1		SNV			1				ENST00000527275	protein_coding	getma.org/?cm=var&var=hg19,11,6415640,C,A&fts=all		hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF13,PIRSF_domain:PIRSF000948		Q/K		A	neutral	1867/2452		getma.org/?cm=msa&ty=f&p=ASM_HUMAN&rb=462&re=629&var=Q565K	tolerated(0.71)	E9PL59_HUMAN			YES	SMPD1,missense_variant,p.Gln567Lys,ENST00000342245,NM_001007593.2,NM_000543.4;SMPD1,missense_variant,p.Gln523Lys,ENST00000299397,;SMPD1,missense_variant,p.Gln511Lys,ENST00000356761,;SMPD1,missense_variant,p.Gln566Lys,ENST00000527275,;SMPD1,missense_variant,p.Gln253Lys,ENST00000526280,;APBB1,downstream_gene_variant,,ENST00000609360,NM_001164.3;APBB1,downstream_gene_variant,,ENST00000389906,;APBB1,downstream_gene_variant,,ENST00000299402,;APBB1,downstream_gene_variant,,ENST00000311051,NM_145689.1;APBB1,downstream_gene_variant,,ENST00000608394,NM_001257321.1;APBB1,downstream_gene_variant,,ENST00000608704,NM_001257320.1,NM_001257326.1;APBB1,downstream_gene_variant,,ENST00000608645,;APBB1,downstream_gene_variant,,ENST00000608655,NM_001257319.1;APBB1,downstream_gene_variant,,ENST00000530885,NM_001257323.1;APBB1,downstream_gene_variant,,ENST00000609331,NM_001257325.1;APBB1,downstream_gene_variant,,ENST00000529519,;SMPD1,downstream_gene_variant,,ENST00000530395,;APBB1,downstream_gene_variant,,ENST00000526240,;SMPD1,downstream_gene_variant,,ENST00000533196,;SMPD1,3_prime_UTR_variant,,ENST00000534405,;SMPD1,3_prime_UTR_variant,,ENST00000533123,;SMPD1,3_prime_UTR_variant,,ENST00000531303,;APBB1,downstream_gene_variant,,ENST00000608435,;APBB1,downstream_gene_variant,,ENST00000524626,;SMPD1,downstream_gene_variant,,ENST00000531336,;SMPD1,downstream_gene_variant,,ENST00000532367,;							MODERATE	1699/1896	Q565K	ASM_HUMAN			Transcript		benign(0.003)	.	ENSP00000340409		CCDS44531.1			1	
CEP350	0	LGGM	GRCh37	1	180061820	180061820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	85	5	.	.	ENST00000367607.3:c.6580G>A	p.Glu2194Lys	p.E2194K	ENST00000367607	NM_014810.4	2194	Gaa/Aaa	0	1	1	UPI000013CFC5	0	NA	ENST00000367607		ENSG00000135837	24238		90	0.895		HGNC	p.E2194K		CEP350		SNV							ENST00000367607	protein_coding	getma.org/?cm=var&var=hg19,1,180061820,G,A&fts=all		hmmpanther:PTHR13958		E/K		A	low	6998/13491		getma.org/?cm=msa&ty=f&p=CE350_HUMAN&rb=2180&re=2379&var=E2194K		Q5T2X4_HUMAN			YES	CEP350,missense_variant,p.Glu2194Lys,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Glu369Lys,ENST00000429851,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;							MODERATE	6580/9354	E2194K	CE350_HUMAN			Transcript		benign(0.437)	.	ENSP00000356579		CCDS1336.1			1	
ADAM2	0	LGGM	GRCh37	8	39606942	39606942	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	80	5	.	.	ENST00000265708.4:c.1903T>A	p.Cys635Ser	p.C635S	ENST00000265708	NM_001464.4	635	Tgt/Agt	0	1	1	UPI00001254C2	0	NA	ENST00000265708		ENSG00000104755	198		85	3.96		HGNC	p.C616S		ADAM2		SNV							ENST00000347580	protein_coding	getma.org/?cm=var&var=hg19,8,39606942,A,T&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108		C/S		T	high	2007/2672		getma.org/?cm=msa&ty=f&p=ADAM2_HUMAN&rb=612&re=645&var=C635S	deleterious(0)				YES	ADAM2,missense_variant,p.Cys635Ser,ENST00000265708,NM_001464.4,NM_001278114.1;ADAM2,missense_variant,p.Cys616Ser,ENST00000347580,NM_001278113.1;ADAM2,missense_variant,p.Cys572Ser,ENST00000521880,;ADAM2,missense_variant,p.Cys479Ser,ENST00000379853,;							MODERATE	1903/2208	C635S	ADAM2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000265708		CCDS34884.1			1	
MMS22L	0	LGGM	GRCh37	6	97629793	97629793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	82	5	.	.	ENST00000275053.4:c.2371G>A	p.Val791Ile	p.V791I	ENST00000275053	NM_198468.2	791	Gtc/Atc	0	1	1	UPI00003673C9	0	NA	ENST00000275053		ENSG00000146263	21475		87	0.345		HGNC	p.V791I		MMS22L		SNV							ENST00000275053	protein_coding	getma.org/?cm=var&var=hg19,6,97629793,C,T&fts=all				V/I		T	neutral	2637/8643		getma.org/?cm=msa&ty=f&p=MMS22_HUMAN&rb=77&re=1238&var=V791I	tolerated(0.18)	H9KVD8_HUMAN			YES	MMS22L,missense_variant,p.Val791Ile,ENST00000275053,NM_198468.2;MMS22L,missense_variant,p.Val751Ile,ENST00000369251,;							MODERATE	2371/3732	V791I	MMS22_HUMAN			Transcript		benign(0.013)	.	ENSP00000275053		CCDS5039.1			1	
HKR1	0	LGGM	GRCh37	19	37835625	37835625	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	69	5	.	.	ENST00000324411.4:c.39A>T	p.Thr13=	p.T13=	ENST00000324411	NM_181786.2	13	acA/acT	0	1	1	UPI00001AE470	0		ENST00000324411		ENSG00000181666	4928		74			HGNC	p.T13T		HKR1		SNV							ENST00000589801	protein_coding					T		T		308/2929				Q7Z6E1_HUMAN,K7EM51_HUMAN,K7EL22_HUMAN,K7EJS1_HUMAN,F5H6A5_HUMAN			YES	HKR1,synonymous_variant,p.=,ENST00000324411,NM_181786.2;HKR1,synonymous_variant,p.=,ENST00000589801,;HKR1,intron_variant,,ENST00000591471,;HKR1,intron_variant,,ENST00000544914,;HKR1,intron_variant,,ENST00000392153,;HKR1,intron_variant,,ENST00000589392,;HKR1,intron_variant,,ENST00000591259,;HKR1,intron_variant,,ENST00000590582,;HKR1,intron_variant,,ENST00000592768,;HKR1,intron_variant,,ENST00000585623,;HKR1,intron_variant,,ENST00000592168,;HKR1,intron_variant,,ENST00000591391,;HKR1,intron_variant,,ENST00000589188,;HKR1,intron_variant,,ENST00000591417,;HKR1,upstream_gene_variant,,ENST00000541583,;HKR1,upstream_gene_variant,,ENST00000590166,;HKR1,upstream_gene_variant,,ENST00000591134,;HKR1,upstream_gene_variant,,ENST00000586897,;HKR1,intron_variant,,ENST00000592362,;HKR1,intron_variant,,ENST00000587829,;HKR1,intron_variant,,ENST00000590386,;HKR1,intron_variant,,ENST00000587437,;HKR1,upstream_gene_variant,,ENST00000590570,;							LOW	39/1980		HKR1_HUMAN			Transcript			.	ENSP00000315505		CCDS12502.1			1	
OR4C6	0	LGGM	GRCh37	11	55433300	55433300	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	93	5	.	.	ENST00000314259.3:c.658C>T	p.Leu220=	p.L220=	ENST00000314259	NM_001004704.1	220	Cta/Tta	0	1	1	UPI0000041868	0		ENST00000314259		ENSG00000181903	14743		98			HGNC	p.L220L		OR4C6		SNV							ENST00000314259	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321		L		T		687/1058							YES	OR4C6,synonymous_variant,p.=,ENST00000314259,NM_001004704.1;							LOW	658/930		OR4C6_HUMAN			Transcript			.	ENSP00000324769		CCDS31506.1			1	
CLIC4	0	LGGM	GRCh37	1	25140694	25140694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	61	5	.	.	ENST00000374379.4:c.292G>T	p.Val98Phe	p.V98F	ENST00000374379	NM_013943.2	98	Gtc/Ttc	0	1	1	UPI0000127AC9	0	getma.org/pdb.php?prot=CLIC4_HUMAN&from=31&to=103&var=V98F	ENST00000374379		ENSG00000169504	13518		66	2.02		HGNC	p.V98F		CLIC4		SNV							ENST00000488683	protein_coding	getma.org/?cm=var&var=hg19,1,25140694,G,T&fts=all		PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF185,hmmpanther:PTHR11260,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR00862,Superfamily_domains:SSF52833		V/F		T	medium	489/4346		getma.org/?cm=msa&ty=f&p=CLIC4_HUMAN&rb=31&re=103&var=V98F	deleterious(0.01)	Q6FIC5_HUMAN,B4DWC4_HUMAN			YES	CLIC4,missense_variant,p.Val98Phe,ENST00000374379,NM_013943.2;CLIC4,non_coding_transcript_exon_variant,,ENST00000497755,;CLIC4,missense_variant,p.Val98Phe,ENST00000488683,;							MODERATE	292/762	V98F	CLIC4_HUMAN			Transcript		benign(0.059)	.	ENSP00000363500		CCDS256.1			1	
MAST1	0	LGGM	GRCh37	19	12969391	12969391	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	54	5	.	.	ENST00000251472.4:c.1204A>T	p.Met402Leu	p.M402L	ENST00000251472	NM_014975.2	402	Atg/Ttg	0	1	1	UPI000004A042	0	getma.org/pdb.php?prot=MAST1_HUMAN&from=374&to=647&var=M402L	ENST00000251472		ENSG00000105613	19034		59	-0.405		HGNC	p.M402L		MAST1		SNV							ENST00000251472	protein_coding	getma.org/?cm=var&var=hg19,19,12969391,A,T&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150,PROSITE_profiles:PS50011		M/L		T	neutral	1243/4833		getma.org/?cm=msa&ty=f&p=MAST1_HUMAN&rb=374&re=647&var=M402L	tolerated(0.09)				YES	MAST1,missense_variant,p.Met402Leu,ENST00000251472,NM_014975.2;MAST1,missense_variant,p.Met398Leu,ENST00000591495,;MAST1,missense_variant,p.Met356Leu,ENST00000588379,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000589040,;							MODERATE	1204/4713	M402L	MAST1_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000251472		CCDS32921.1			1	
INPP5D	0	LGGM	GRCh37	2	234072361	234072361	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	125	6	.	.	ENST00000359570.5:c.1213C>T	p.Pro405Ser	p.P405S	ENST00000359570		405	Ccc/Tcc	0	1		UPI000013E977	0		ENST00000445964		ENSG00000168918	6079		131			HGNC	p.P38S		INPP5D		SNV							ENST00000435188	protein_coding			hmmpanther:PTHR11200:SF69,hmmpanther:PTHR11200,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219		P/S		T		112/3628			tolerated(0.13)	H0Y5Q9_HUMAN				INPP5D,missense_variant,p.Pro405Ser,ENST00000359570,;INPP5D,missense_variant,p.Pro169Ser,ENST00000455936,NM_005541.3_dupl7,NM_001017915.1_dupl7;INPP5D,missense_variant,p.Pro169Ser,ENST00000450745,;INPP5D,missense_variant,p.Pro38Ser,ENST00000445964,;INPP5D,missense_variant,p.Pro38Ser,ENST00000415617,;INPP5D,missense_variant,p.Pro38Ser,ENST00000435188,;INPP5D,missense_variant,p.Pro404Ser,ENST00000538935,;INPP5D,upstream_gene_variant,,ENST00000472517,;INPP5D,non_coding_transcript_exon_variant,,ENST00000493078,;							MODERATE	112/2433					Transcript		possibly_damaging(0.69)	.	ENSP00000405338					1	
SLC39A12	0	LGGM	GRCh37	10	18242230	18242230	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	81	6	.	.	ENST00000377369.2:c.25G>T	p.Val9Leu	p.V9L	ENST00000377369	NM_001145195.1	9	Gta/Tta	0	1	1	UPI00004044FC	0	NA	ENST00000377369		ENSG00000148482	20860		87	1.87		HGNC	p.V9L	COSM538088,COSM1648658	SLC39A12		SNV						1,1	ENST00000377369	protein_coding	getma.org/?cm=var&var=hg19,10,18242230,G,T&fts=all		hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF4,Cleavage_site_(Signalp):SignalP-noTM		V/L		T	low	298/2808		getma.org/?cm=msa&ty=f&p=S39AC_HUMAN&rb=1&re=200&var=V9L	tolerated_low_confidence(0.23)	F5GX72_HUMAN			YES	SLC39A12,missense_variant,p.Val9Leu,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Val9Leu,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Val9Leu,ENST00000377374,NM_152725.3;SLC39A12,intron_variant,,ENST00000539911,NM_001282734.1;					1,1		MODERATE	25/2076	V9L	S39AC_HUMAN			Transcript		benign(0.003)	.	ENSP00000366586		CCDS44362.1			1	
SPATA31A6	0	LGGM	GRCh37	9	43627000	43627000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	34	6	.	.	ENST00000332857.6:c.1687G>T	p.Asp563Tyr	p.D563Y	ENST00000332857	NM_001145196.1	563	Gac/Tac	0	1	1	UPI0000197F6E	0	NA	ENST00000332857		ENSG00000185775	32006		40	1.5		HGNC	p.D563Y		SPATA31A6		SNV							ENST00000332857	protein_coding	getma.org/?cm=var&var=hg19,9,43627000,C,A&fts=all		hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF14650		D/Y		A	low	1716/4209		getma.org/?cm=msa&ty=f&p=F75A6_HUMAN&rb=1&re=1341&var=D563Y	deleterious(0)				YES	SPATA31A6,missense_variant,p.Asp563Tyr,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;							MODERATE	1687/4032	D563Y	S31A6_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000329825		CCDS47973.1			1	
KCNJ15	0	LGGM	GRCh37	21	39671786	39671786	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	38	6	.	.	ENST00000328656.4:c.603T>C	p.Asn201=	p.N201=	ENST00000328656	NM_002243.4	201	aaT/aaC	0	1	1	UPI000006E337	0		ENST00000328656		ENSG00000157551	6261	0.00104	44			HGNC	p.N201N	rs749156779	KCNJ15		SNV							ENST00000438657	protein_coding			hmmpanther:PTHR11767:SF20,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296		N		C		906/8399				F8VX74_HUMAN,F8VW46_HUMAN,E7EWV2_HUMAN,E7EPG3_HUMAN,C9JTX1_HUMAN,A8MVK1_HUMAN,A8MTZ5_HUMAN			YES	KCNJ15,synonymous_variant,p.=,ENST00000328656,NM_002243.4,NM_001276438.1,NM_001276437.1,NM_001276439.1;KCNJ15,synonymous_variant,p.=,ENST00000398930,;KCNJ15,synonymous_variant,p.=,ENST00000398932,;KCNJ15,synonymous_variant,p.=,ENST00000398934,NM_001276436.1,NM_001276435.1,NM_170737.2;KCNJ15,synonymous_variant,p.=,ENST00000398938,NM_170736.2;KCNJ15,synonymous_variant,p.=,ENST00000438657,;KCNJ15,downstream_gene_variant,,ENST00000549805,;KCNJ15,downstream_gene_variant,,ENST00000417042,;KCNJ15,downstream_gene_variant,,ENST00000398928,;KCNJ15,downstream_gene_variant,,ENST00000443341,;KCNJ15,downstream_gene_variant,,ENST00000398927,;KCNJ15,downstream_gene_variant,,ENST00000549158,;KCNJ15,downstream_gene_variant,,ENST00000547341,;KCNJ15,downstream_gene_variant,,ENST00000549932,;KCNJ15,downstream_gene_variant,,ENST00000398925,;KCNJ15,downstream_gene_variant,,ENST00000419868,;KCNJ15,downstream_gene_variant,,ENST00000551422,;KCNJ15,downstream_gene_variant,,ENST00000547595,;KCNJ15,downstream_gene_variant,,ENST00000548700,;							LOW	603/1128		IRK15_HUMAN			Transcript			common_variant	ENSP00000331698	9.88E-05	CCDS13656.1			1	
BRIP1	0	LGGM	GRCh37	17	59885840	59885840	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	67	6	.	.	ENST00000259008.2:c.906A>T	p.Leu302=	p.L302=	ENST00000259008	NM_032043.2	302	ctA/ctT	0	1	1	UPI000013D01F	0		ENST00000259008		ENSG00000136492	20473		73			HGNC	p.L302L		BRIP1		SNV			1				ENST00000259008	protein_coding			Pfam_domain:PF06733,PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF6,SMART_domains:SM00487,SMART_domains:SM00488,TIGRFAM_domain:TIGR00604		L		A		1174/6048				J3KS24_HUMAN			YES	BRIP1,synonymous_variant,p.=,ENST00000259008,NM_032043.2;BRIP1,synonymous_variant,p.=,ENST00000577598,;							LOW	906/3750		FANCJ_HUMAN			Transcript			.	ENSP00000259008		CCDS11631.1			1	
FSIP2	0	LGGM	GRCh37	2	186656624	186656624	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	95	6	.	.	ENST00000343098.5:c.5028T>A	p.Asn1676Lys	p.N1676K	ENST00000343098	NM_173651.2	1676	aaT/aaA	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		101	1.59		HGNC	p.N1676K		FSIP2		SNV							ENST00000343098	protein_coding	getma.org/?cm=var&var=hg19,2,186656624,T,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		N/K		A	low	4761/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=483&re=3510&var=N1587K						FSIP2,missense_variant,p.Asn1676Lys,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Asn1587Lys,ENST00000424728,;AC008174.3,intron_variant,,ENST00000436557,;AC008174.3,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;							MODERATE	4761/20724	N1587K	FSIP2_HUMAN			Transcript		benign(0.297)	.	ENSP00000401306					1	
CREBBP	0	LGGM	GRCh37	16	3824603	3824603	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	41	6	.	.	ENST00000262367.5:c.2250T>C	p.Ser750=	p.S750=	ENST00000262367	NM_004380.2	750	tcT/tcC	0	1	1	UPI0000000620	0		ENST00000262367		ENSG00000005339	2348		47			HGNC	p.S712S		CREBBP		SNV			1				ENST00000382070	protein_coding			hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		S		G		3060/10803				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			YES	CREBBP,synonymous_variant,p.=,ENST00000262367,NM_004380.2;CREBBP,synonymous_variant,p.=,ENST00000382070,NM_001079846.1;CREBBP,synonymous_variant,p.=,ENST00000572134,;CREBBP,synonymous_variant,p.=,ENST00000571826,;CREBBP,non_coding_transcript_exon_variant,,ENST00000575237,;CREBBP,upstream_gene_variant,,ENST00000573672,;							LOW	2250/7329		CBP_HUMAN			Transcript			.	ENSP00000262367		CCDS10509.1			1	
C12orf54	0	LGGM	GRCh37	12	48884605	48884605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	126	7	.	.	ENST00000314014.2:c.179A>T	p.Asp60Val	p.D60V	ENST00000314014	NM_152319.3	60	gAt/gTt	0	1	1	UPI000007267F	0	NA	ENST00000314014		ENSG00000177627	28553		133	0.695		HGNC	p.D4V		C12orf54		SNV							ENST00000549398	protein_coding	getma.org/?cm=var&var=hg19,12,48884605,A,T&fts=all				D/V		T	neutral	310/887		getma.org/?cm=msa&ty=f&p=CL054_HUMAN&rb=1&re=69&var=D60V	deleterious(0)	H0YIT5_HUMAN			YES	C12orf54,missense_variant,p.Asp60Val,ENST00000314014,NM_152319.3;C12orf54,missense_variant,p.Asp60Val,ENST00000548364,;RP11-722P11.4,intron_variant,,ENST00000551847,;C12orf54,downstream_gene_variant,,ENST00000548913,;C12orf54,missense_variant,p.Asp4Val,ENST00000549398,;C12orf54,3_prime_UTR_variant,,ENST00000380491,;C12orf54,upstream_gene_variant,,ENST00000551266,;RPS10P20,downstream_gene_variant,,ENST00000494130,;							MODERATE	179/384	D60V	CL054_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000316898		CCDS8764.1			1	
FBXW7	0	LGGM	GRCh37	4	153244217	153244217	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	162	7	.	.	ENST00000281708.4:c.1940A>T	p.Lys647Ile	p.K647I	ENST00000281708	NM_033632.3	647	aAa/aTa	0	1	1	UPI000007007E	0	getma.org/pdb.php?prot=FBXW7_HUMAN&from=611&to=650&var=K647I	ENST00000281708		ENSG00000109670	16712		169	1.835		HGNC	p.K567I		FBXW7		SNV							ENST00000263981	protein_coding	getma.org/?cm=var&var=hg19,4,153244217,T,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF116,SMART_domains:SM00320,Superfamily_domains:SSF50978		K/I		A	low	3170/4977		getma.org/?cm=msa&ty=f&p=FBXW7_HUMAN&rb=611&re=650&var=K647I	deleterious(0)	S4R3N3_HUMAN,H9CWI3_HUMAN,H9CWI2_HUMAN,G0Z2K0_HUMAN,A7BJS8_HUMAN			YES	FBXW7,missense_variant,p.Lys647Ile,ENST00000281708,NM_033632.3;FBXW7,missense_variant,p.Lys567Ile,ENST00000263981,NM_018315.4;FBXW7,missense_variant,p.Lys529Ile,ENST00000296555,NM_001013415.1;FBXW7,missense_variant,p.Lys647Ile,ENST00000603548,;FBXW7,missense_variant,p.Lys647Ile,ENST00000603841,;FBXW7,missense_variant,p.Lys471Ile,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,;							MODERATE	1940/2124	K647I	FBXW7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000281708		CCDS3777.1			1	
PRPF39	0	LGGM	GRCh37	14	45577678	45577678	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	82	7	.	.	ENST00000355765.6:c.964A>C	p.Asn322His	p.N322H	ENST00000355765	NM_017922.3	322	Aat/Cat	0	1	1	UPI00015BB2D5	0	NA	ENST00000355765		ENSG00000185246	20314		89	1.905		HGNC	p.N322H		PRPF39		SNV							ENST00000355765	protein_coding	getma.org/?cm=var&var=hg19,14,45577678,A,C&fts=all		hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204		N/H		C	medium	1134/2868		getma.org/?cm=msa&ty=f&p=PRP39_HUMAN&rb=201&re=400&var=N322H	tolerated(0.08)				YES	PRPF39,missense_variant,p.Asn322His,ENST00000355765,NM_017922.3;SNORD127,upstream_gene_variant,,ENST00000458892,NR_003691.1;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000557477,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;PRPF39,upstream_gene_variant,,ENST00000554785,;PRPF39,upstream_gene_variant,,ENST00000556718,;							MODERATE	964/2010	N322H	PRP39_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000348010		CCDS9682.2			1	
WDR17	0	LGGM	GRCh37	4	177032754	177032754	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	80	7	.	.	ENST00000280190.4:c.95G>T	p.Gly32Val	p.G32V	ENST00000280190		32	gGa/gTa	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		87	0.895		HGNC	p.G32V		WDR17		SNV							ENST00000513261	protein_coding	getma.org/?cm=var&var=hg19,4,177032754,G,T&fts=all				G/V		T	low	251/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=1&re=72&var=G32V	deleterious(0)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Gly8Val,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Gly32Val,ENST00000280190,;WDR17,missense_variant,p.Gly8Val,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Gly32Val,ENST00000507824,;WDR17,downstream_gene_variant,,ENST00000509792,;WDR17,missense_variant,p.Gly32Val,ENST00000513261,;							MODERATE	95/3969	G32V	WDR17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000280190		CCDS3825.1			1	
SRF	0	LGGM	GRCh37	6	43143467	43143467	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	99	7	.	.	ENST00000265354.4:c.804A>T	p.Thr268=	p.T268=	ENST00000265354	NM_003131.2	268	acA/acT	0	1	1	UPI0000135F3B	0		ENST00000265354		ENSG00000112658	11291		106			HGNC	p.T268T		SRF		SNV							ENST00000265354	protein_coding			hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF32		T		T		1162/4200				F5H6V4_HUMAN			YES	SRF,synonymous_variant,p.=,ENST00000265354,NM_003131.2;SRF,synonymous_variant,p.=,ENST00000457278,;							LOW	804/1527		SRF_HUMAN			Transcript			.	ENSP00000265354		CCDS4889.1			1	
MUC16	0	LGGM	GRCh37	19	8968946	8968946	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	107	8	.	.	ENST00000397910.4:c.43070T>A	p.Leu14357His	p.L14357H	ENST00000397910	NM_024690.2	14357	cTc/cAc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=14414&to=14524&var=L14453H	ENST00000397910		ENSG00000181143	15582		115	3.005		HGNC	p.L998H		MUC16		SNV							ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8968946,A,T&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		L/H		T	medium	43274/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=14414&re=14524&var=L14453H		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Leu14357His,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Leu1180His,ENST00000599436,;MUC16,missense_variant,p.Leu998His,ENST00000380951,;MUC16,missense_variant,p.Ser1180Thr,ENST00000601404,;MUC16,splice_region_variant,,ENST00000596768,;							MODERATE	43070/43524	L14453H				Transcript		probably_damaging(1)	.	ENSP00000381008		CCDS54212.1			1	
OBSCN	0	LGGM	GRCh37	1	228487815	228487815	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	82	8	.	.	ENST00000570156.2:c.13707G>A	p.Gln4569=	p.Q4569=	ENST00000570156	NM_001271223.2	4569	caG/caA	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		90			HGNC	p.Q4324Q		OBSCN		SNV							ENST00000570156	protein_coding							A		-/24030								OBSCN,synonymous_variant,p.=,ENST00000570156,NM_001271223.2;OBSCN,synonymous_variant,p.=,ENST00000366707,;OBSCN,synonymous_variant,p.=,ENST00000483539,;OBSCN,3_prime_UTR_variant,,ENST00000359599,;OBSCN,intron_variant,,ENST00000422127,NM_001098623.2;OBSCN,intron_variant,,ENST00000284548,NM_052843.3;OBSCN,intron_variant,,ENST00000366709,;RP5-1139B12.4,intron_variant,,ENST00000602778,;OBSCN,non_coding_transcript_exon_variant,,ENST00000602685,;OBSCN,downstream_gene_variant,,ENST00000494839,;OBSCN,upstream_gene_variant,,ENST00000602832,;							MODIFIER	-/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
LIPI	0	LGGM	GRCh37	21	15481324	15481324	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	40	8	.	.	ENST00000344577.2:c.1436A>T	p.Lys479Met	p.K479M	ENST00000344577	NM_198996.2	479	aAg/aTg	0	1	1	UPI000015F82D	0	NA	ENST00000344577		ENSG00000188992	18821		48	0.69		HGNC	p.K458M		LIPI		SNV			1				ENST00000536861	protein_coding	getma.org/?cm=var&var=hg19,21,15481324,T,A&fts=all		PIRSF_domain:PIRSF000865		K/M		A	neutral	1462/1652		getma.org/?cm=msa&ty=f&p=LIPI_HUMAN&rb=335&re=460&var=K458M	deleterious(0.05)				YES	LIPI,missense_variant,p.Lys479Met,ENST00000344577,NM_198996.2;LIPI,missense_variant,p.Lys458Met,ENST00000536861,;AP001347.6,intron_variant,,ENST00000428809,;AP001347.6,intron_variant,,ENST00000432621,;							MODERATE	1436/1446	K458M	LIPI_HUMAN			Transcript		possibly_damaging(0.784)	.	ENSP00000343331		CCDS13564.1			1	
WDR87	0	LGGM	GRCh37	19	38378468	38378468	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	140	8	.	.	ENST00000303868.5:c.5726T>A	p.Leu1909Gln	p.L1909Q	ENST00000303868	NM_031951.3	1909	cTg/cAg	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		148	0.805		HGNC	p.L1909Q		WDR87		SNV							ENST00000303868	protein_coding	getma.org/?cm=var&var=hg19,19,38378468,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18,Low_complexity_(Seg):seg		L/Q		T	low	5951/8847		getma.org/?cm=msa&ty=f&p=WDR87_HUMAN&rb=1311&re=2379&var=L1909Q		B4DXE9_HUMAN			YES	WDR87,missense_variant,p.Leu1948Gln,ENST00000447313,;WDR87,missense_variant,p.Leu1909Gln,ENST00000303868,NM_031951.3;							MODERATE	5726/8622	L1909Q	WDR87_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000368025		CCDS46063.1			1	
BYSL	0	LGGM	GRCh37	6	41900272	41900272	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	92	8	.	.	ENST00000230340.4:c.1142G>T	p.Cys381Phe	p.C381F	ENST00000230340	NM_004053.3	381	tGc/tTc	0	1	1	UPI0000034CC4	0	NA	ENST00000230340		ENSG00000112578	1157		100	2.57		HGNC	p.C381F		BYSL		SNV							ENST00000230340	protein_coding	getma.org/?cm=var&var=hg19,6,41900272,G,T&fts=all		hmmpanther:PTHR12821,hmmpanther:PTHR12821:SF0,Pfam_domain:PF05291		C/F		T	medium	1517/2029		getma.org/?cm=msa&ty=f&p=BYST_HUMAN&rb=136&re=436&var=C381F	deleterious(0.01)				YES	BYSL,missense_variant,p.Cys381Phe,ENST00000230340,NM_004053.3;CCND3,downstream_gene_variant,,ENST00000511642,;CCND3,downstream_gene_variant,,ENST00000372987,NM_001287427.1;CCND3,downstream_gene_variant,,ENST00000372988,NM_001136017.2;CCND3,downstream_gene_variant,,ENST00000372991,NM_001760.3;CCND3,downstream_gene_variant,,ENST00000415497,NM_001136126.1;CCND3,downstream_gene_variant,,ENST00000414200,NM_001136125.1;CCND3,downstream_gene_variant,,ENST00000510503,;CCND3,downstream_gene_variant,,ENST00000512426,;CCND3,downstream_gene_variant,,ENST00000508143,;CCND3,downstream_gene_variant,,ENST00000505064,;CCND3,downstream_gene_variant,,ENST00000511686,;CCND3,downstream_gene_variant,,ENST00000513956,;CCND3,downstream_gene_variant,,ENST00000506555,;BYSL,3_prime_UTR_variant,,ENST00000372996,;BYSL,3_prime_UTR_variant,,ENST00000489290,;CCND3,downstream_gene_variant,,ENST00000505672,;CCND3,downstream_gene_variant,,ENST00000510058,;BYSL,downstream_gene_variant,,ENST00000475702,;CCND3,downstream_gene_variant,,ENST00000505884,;CCND3,downstream_gene_variant,,ENST00000511161,;BYSL,downstream_gene_variant,,ENST00000494032,;							MODERATE	1142/1314	C381F	BYST_HUMAN			Transcript		benign(0.446)	.	ENSP00000230340		CCDS34450.1			1	
PPP1R12B	0	LGGM	GRCh37	1	202418122	202418122	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	75	8	.	.	ENST00000608999.1:c.1673C>G	p.Pro558Arg	p.P558R	ENST00000608999	NM_002481.3	558	cCt/cGt	0	1	1	UPI0000458A57	0	NA	ENST00000608999		ENSG00000077157	7619		83	2.175		HGNC	p.P558R		PPP1R12B		SNV							ENST00000336894	protein_coding	getma.org/?cm=var&var=hg19,1,202418122,C,G&fts=all		PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18		P/R		G	medium	1826/15248		getma.org/?cm=msa&ty=f&p=MYPT2_HUMAN&rb=482&re=607&var=P558R	deleterious(0.01)				YES	PPP1R12B,missense_variant,p.Pro558Arg,ENST00000608999,NM_002481.3,NM_001197131.1;PPP1R12B,missense_variant,p.Pro558Arg,ENST00000336894,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000498070,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000434615,;							MODERATE	1673/2949	P558R				Transcript		probably_damaging(0.973)	.	ENSP00000476755		CCDS1426.1			1	
NCOA6	0	LGGM	GRCh37	20	33337287	33337287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	115	8	.	.	ENST00000374796.2:c.2711A>G	p.Asn904Ser	p.N904S	ENST00000374796		904	aAt/aGt	0	1		UPI000013C634	0	NA	ENST00000359003		ENSG00000198646	15936		123	0.805		HGNC	p.N904S	rs777754784	NCOA6		SNV							ENST00000374796	protein_coding	getma.org/?cm=var&var=hg19,20,33337287,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690		N/S		C	low	3052/7081		getma.org/?cm=msa&ty=f&p=NCOA6_HUMAN&rb=705&re=1513&var=N904S						NCOA6,missense_variant,p.Asn904Ser,ENST00000374796,;NCOA6,missense_variant,p.Asn904Ser,ENST00000359003,NM_014071.3,NM_001242539.1;							MODERATE	2711/6192	N904S	NCOA6_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000351894		CCDS13241.1			1	
RPAP2	0	LGGM	GRCh37	1	92789711	92789711	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	72	9	.	.	ENST00000610020.1:c.1234A>G	p.Ile412Val	p.I412V	ENST00000610020	NM_024813.2	412	Ata/Gta	0	1	1	UPI0000074323	0	NA	ENST00000610020		ENSG00000122484	25791		81	0.41		HGNC	p.I412V	rs780849076	RPAP2		SNV							ENST00000370343	protein_coding	getma.org/?cm=var&var=hg19,1,92789711,A,G&fts=all		hmmpanther:PTHR14732:SF0,hmmpanther:PTHR14732		I/V		G	neutral	1343/16993	1.50E-05	getma.org/?cm=msa&ty=f&p=RPAP2_HUMAN&rb=354&re=553&var=I412V	tolerated(0.27)				YES	RPAP2,missense_variant,p.Ile412Val,ENST00000610020,NM_024813.2;RPAP2,downstream_gene_variant,,ENST00000484158,;							MODERATE	1234/1839	I412V	RPAP2_HUMAN			Transcript		benign(0.004)	.	ENSP00000476948	8.24E-06	CCDS740.1			1	
HECW1	0	LGGM	GRCh37	7	43546831	43546831	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	79	9	.	.	ENST00000395891.2:c.3727T>A	p.Phe1243Ile	p.F1243I	ENST00000395891	NM_015052.3	1243	Ttt/Att	0	1	1	UPI0000D74C41	0	NA	ENST00000395891		ENSG00000002746	22195		88	0.345		HGNC	p.F1209I		HECW1		SNV							ENST00000453890	protein_coding	getma.org/?cm=var&var=hg19,7,43546831,T,A&fts=all		hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254,Superfamily_domains:SSF56204		F/I		A	neutral	4332/9501		getma.org/?cm=msa&ty=f&p=HECW1_HUMAN&rb=1061&re=1260&var=F1243I	deleterious(0.02)	A4D1V5_HUMAN			YES	HECW1,missense_variant,p.Phe1243Ile,ENST00000395891,NM_015052.3;HECW1,missense_variant,p.Phe1209Ile,ENST00000453890,NM_001287059.1;HECW1,intron_variant,,ENST00000429529,;AC011738.4,downstream_gene_variant,,ENST00000436105,;							MODERATE	3727/4821	F1243I	HECW1_HUMAN			Transcript		benign(0.258)	.	ENSP00000379228		CCDS5469.2			1	
PTPRZ1	0	LGGM	GRCh37	7	121650502	121650502	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	165	9	.	.	ENST00000393386.2:c.1402A>T	p.Asn468Tyr	p.N468Y	ENST00000393386	NM_001206838.1	468	Aat/Tat	0	1	1	UPI000020F9BB	0	NA	ENST00000393386		ENSG00000106278	9685		174	1.95		HGNC	p.N468Y		PTPRZ1		SNV							ENST00000449182	protein_coding	getma.org/?cm=var&var=hg19,7,121650502,A,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214		N/Y		T	medium	1813/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=421&re=1661&var=N468Y	deleterious(0.03)				YES	PTPRZ1,missense_variant,p.Asn468Tyr,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Asn468Tyr,ENST00000449182,NM_001206839.1;PTPRZ1,upstream_gene_variant,,ENST00000483028,;							MODERATE	1402/6948	N468Y	PTPRZ_HUMAN			Transcript		benign(0.372)	.	ENSP00000377047		CCDS34740.1			1	
NQO2	0	LGGM	GRCh37	6	3012776	3012776	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	64	10	.	.	ENST00000338130.2:c.173-2A>T		p.X58_splice	ENST00000338130				0	1	1	UPI000020E40D	0		ENST00000338130		ENSG00000124588	7856		74			HGNC	-		NQO2		SNV							ENST00000426637	protein_coding							T		-/1515				Q5TD05_HUMAN,A2A2U4_HUMAN			YES	NQO2,splice_acceptor_variant,,ENST00000338130,;NQO2,splice_acceptor_variant,,ENST00000380430,;NQO2,splice_acceptor_variant,,ENST00000380441,;NQO2,splice_acceptor_variant,,ENST00000380455,NM_000904.3;NQO2,splice_acceptor_variant,,ENST00000380454,;NQO2,splice_acceptor_variant,,ENST00000397717,;NQO2,splice_acceptor_variant,,ENST00000380472,;NQO2,splice_acceptor_variant,,ENST00000426637,;NQO2,downstream_gene_variant,,ENST00000606474,;							HIGH	173/696		NQO2_HUMAN			Transcript			.	ENSP00000337773		CCDS4481.1			1	
MYH11	0	LGGM	GRCh37	16	15932024	15932024	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	73	10	.	.	ENST00000396324.3:c.86A>C	p.Asp29Ala	p.D29A	ENST00000396324	NM_001040114.1	29	gAc/gCc	0	1		UPI000012FB86	0	getma.org/pdb.php?prot=MYH11_HUMAN&from=1&to=785&var=D29A	ENST00000300036		ENSG00000133392	7569		83	0.665		HGNC	p.D29A		MYH11		SNV			1				ENST00000452625	protein_coding	getma.org/?cm=var&var=hg19,16,15932024,T,G&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335		D/A		G	neutral	196/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1&re=785&var=D29A		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Asp29Ala,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Asp29Ala,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Asp29Ala,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Asp29Ala,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000571505,;							MODERATE	86/5919	D29A	MYH11_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000300036		CCDS10565.1			1	
AK5	0	LGGM	GRCh37	1	77763283	77763283	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	89	10	.	.	ENST00000354567.2:c.455T>C	p.Ile152Thr	p.I152T	ENST00000354567	NM_174858.2	152	aTt/aCt	0	1	1	UPI0000167E20	0	getma.org/pdb.php?prot=KAD5_HUMAN&from=137&to=294&var=I152T	ENST00000354567		ENSG00000154027	365		99	3.18		HGNC	p.I152T		AK5		SNV							ENST00000354567	protein_coding	getma.org/?cm=var&var=hg19,1,77763283,T,C&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF00406,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF79,HAMAP:MF_00235		I/T		C	medium	718/3248		getma.org/?cm=msa&ty=f&p=KAD5_HUMAN&rb=137&re=294&var=I152T	deleterious(0)	E9PQQ8_HUMAN,E9PIS7_HUMAN			YES	AK5,missense_variant,p.Ile126Thr,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Ile152Thr,ENST00000354567,NM_174858.2;AK5,missense_variant,p.Ile126Thr,ENST00000478407,;AK5,non_coding_transcript_exon_variant,,ENST00000317704,;AK5,non_coding_transcript_exon_variant,,ENST00000469394,;AK5,non_coding_transcript_exon_variant,,ENST00000466114,;AK5,upstream_gene_variant,,ENST00000524494,;							MODERATE	455/1689	I152T	KAD5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346577		CCDS675.1			1	
MXRA5	0	LGGM	GRCh37	X	3241320	3241320	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	43	10	.	.	ENST00000217939.6:c.2406C>A	p.Pro802=	p.P802=	ENST00000217939	NM_015419.3	802	ccC/ccA	0	1	1	UPI000013C73B	0		ENST00000217939		ENSG00000101825	7539		53			HGNC	p.P802P		MXRA5		SNV							ENST00000217939	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582		P		T		2561/9793							YES	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;							LOW	2406/8487		MXRA5_HUMAN			Transcript			.	ENSP00000217939		CCDS14124.1			1	
SETX	0	LGGM	GRCh37	9	135203260	135203260	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	146	11	.	.	ENST00000224140.5:c.3725C>T	p.Pro1242Leu	p.P1242L	ENST00000224140	NM_015046.5	1242	cCt/cTt	0	1	1	UPI0000210D28	0	NA	ENST00000224140		ENSG00000107290	445		157	1.7		HGNC	p.P1242L		SETX		SNV			1				ENST00000393220	protein_coding	getma.org/?cm=var&var=hg19,9,135203260,G,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336		P/L		A	low	3908/11100		getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=1222&re=1421&var=P1242L	tolerated(0.23)				YES	SETX,missense_variant,p.Pro1242Leu,ENST00000372169,;SETX,missense_variant,p.Pro1242Leu,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Pro1242Leu,ENST00000393220,;							MODERATE	3725/8034	P1242L	SETX_HUMAN			Transcript		benign(0.005)	.	ENSP00000224140		CCDS6947.1			1	
ZNF844	0	LGGM	GRCh37	19	12186298	12186298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	104	11	.	.	ENST00000439326.3:c.363C>A	p.His121Gln	p.H121Q	ENST00000439326	NM_001136501.1	121	caC/caA	0	1	1	UPI0000185F5D	0	NA	ENST00000439326		ENSG00000223547	25932		115	2.7		HGNC	p.H121Q		ZNF844		SNV							ENST00000439326	protein_coding	getma.org/?cm=var&var=hg19,19,12186298,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24379,SMART_domains:SM00355		H/Q		A	medium	538/6620		getma.org/?cm=msa&ty=f&p=ZN844_HUMAN&rb=45&re=154&var=H121Q	deleterious(0.02)	F8VS19_HUMAN			YES	ZNF844,missense_variant,p.His121Gln,ENST00000439326,NM_001136501.1;ZNF844,3_prime_UTR_variant,,ENST00000441304,;ZNF844,5_prime_UTR_variant,,ENST00000550826,;							MODERATE	363/2001	H121Q	ZN844_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000392024		CCDS45985.1			1	
ACOX2	0	LGGM	GRCh37	3	58520689	58520689	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	164	11	.	.	ENST00000302819.5:c.145C>T	p.Leu49Phe	p.L49F	ENST00000302819	NM_003500.3	49	Ctc/Ttc	0	1	1	UPI000000DC36	0	getma.org/pdb.php?prot=ACOX2_HUMAN&from=1&to=149&var=L49F	ENST00000302819		ENSG00000168306	120		175	2.39		HGNC	p.L49F		ACOX2		SNV							ENST00000459701	protein_coding	getma.org/?cm=var&var=hg19,3,58520689,G,A&fts=all		Gene3D:1.10.540.10,Pfam_domain:PF14749,PIRSF_domain:PIRSF000168,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF266,Superfamily_domains:SSF56645		L/F		A	medium	437/2426		getma.org/?cm=msa&ty=f&p=ACOX2_HUMAN&rb=1&re=149&var=L49F	tolerated(0.16)	C9JY29_HUMAN,B4DPM1_HUMAN			YES	ACOX2,missense_variant,p.Leu49Phe,ENST00000302819,NM_003500.3;ACOX2,missense_variant,p.Leu49Phe,ENST00000459701,;ACOX2,missense_variant,p.Leu49Phe,ENST00000474098,;ACOX2,non_coding_transcript_exon_variant,,ENST00000475143,;ACOX2,missense_variant,p.Leu7Phe,ENST00000492530,;ACOX2,non_coding_transcript_exon_variant,,ENST00000466689,;ACOX2,non_coding_transcript_exon_variant,,ENST00000480791,;ACOX2,upstream_gene_variant,,ENST00000489472,;ACOX2,upstream_gene_variant,,ENST00000466810,;							MODERATE	145/2046	L49F	ACOX2_HUMAN			Transcript		possibly_damaging(0.646)	.	ENSP00000307697		CCDS33775.1			1	
KIR3DL3	0	LGGM	GRCh37	19	55247472	55247472	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	93	11	.	.	ENST00000291860.1:c.1142A>T	p.Tyr381Phe	p.Y381F	ENST00000291860	NM_153443.3	381	tAc/tTc	0	1	1	UPI000006E4A1	0	NA	ENST00000291860		ENSG00000242019	16312		104	3.61		HGNC	p.Y381F		KIR3DL3		SNV							ENST00000291860	protein_coding	getma.org/?cm=var&var=hg19,19,55247472,A,T&fts=all		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19		Y/F		T	high	1160/1691		getma.org/?cm=msa&ty=f&p=KI3L3_HUMAN&rb=296&re=410&var=Y381F	tolerated(0.07)	K7RE68_HUMAN,D6BP47_HUMAN			YES	KIR3DL3,missense_variant,p.Tyr381Phe,ENST00000291860,NM_153443.3;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;KIR2DL3,upstream_gene_variant,,ENST00000342376,NM_015868.2;KIR2DL3,upstream_gene_variant,,ENST00000434419,;CTB-61M7.1,intron_variant,,ENST00000400864,;							MODERATE	1142/1233	Y381F	KI3L3_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000291860		CCDS12903.1			1	
KIAA1009	0	LGGM	GRCh37	6	84834918	84834918	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	100	12	.	.	ENST00000403245.3:c.4083A>G	p.Leu1361=	p.L1361=	ENST00000403245	NM_014895.2	1361	ttA/ttG	0	1	1	UPI0001533DAA	0		ENST00000403245		ENSG00000135315	21107		112			HGNC	p.L1361L		KIAA1009		SNV							ENST00000403245	protein_coding			Coiled-coils_(Ncoils):Coil		L		C		4198/5156				B3KN48_HUMAN			YES	KIAA1009,synonymous_variant,p.=,ENST00000403245,NM_014895.2;KIAA1009,synonymous_variant,p.=,ENST00000257766,NM_001286206.1;KIAA1009,non_coding_transcript_exon_variant,,ENST00000461137,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000487999,;							LOW	4083/4212		CE162_HUMAN			Transcript			.	ENSP00000385215		CCDS34494.2			1	
GIMAP4	0	LGGM	GRCh37	7	150270015	150270015	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	89	12	.	.	ENST00000255945.2:c.857A>T	p.Gln286Leu	p.Q286L	ENST00000255945	NM_018326.2	286	cAg/cTg	0	1	1	UPI0000073CB0	0	NA	ENST00000255945		ENSG00000133574	21872		101	1.1		HGNC	p.Q300L		GIMAP4		SNV							ENST00000461940	protein_coding	getma.org/?cm=var&var=hg19,7,150270015,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF38		Q/L		T	low	1032/2058		getma.org/?cm=msa&ty=f&p=GIMA4_HUMAN&rb=242&re=290&var=Q286L	deleterious(0.05)				YES	GIMAP4,missense_variant,p.Gln286Leu,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Gln300Leu,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,non_coding_transcript_exon_variant,,ENST00000494750,;GIMAP4,downstream_gene_variant,,ENST00000478135,;							MODERATE	857/990	Q286L	GIMA4_HUMAN			Transcript		benign(0.013)	.	ENSP00000255945		CCDS5904.1			1	
USP6NL	0	LGGM	GRCh37	10	11504623	11504623	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	187	12	.	.	ENST00000277575.5:c.2355A>G	p.Gln785=	p.Q785=	ENST00000277575	NM_001080491.2	785	caA/caG	0	1		UPI000000DA06	0		ENST00000609104		ENSG00000148429	16858		199			HGNC	p.Q785Q		USP6NL		SNV							ENST00000277575	protein_coding					Q		C		2699/11377								USP6NL,synonymous_variant,p.=,ENST00000609104,NM_014688.2;USP6NL,synonymous_variant,p.=,ENST00000379237,;USP6NL,synonymous_variant,p.=,ENST00000277575,NM_001080491.2;							LOW	2304/2487					Transcript			.	ENSP00000476462		CCDS53492.1			1	
GALNT7	0	LGGM	GRCh37	4	174216610	174216610	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	93	13	.	.	ENST00000265000.4:c.818G>A	p.Arg273Gln	p.R273Q	ENST00000265000	NM_017423.2	273	cGa/cAa	0	1	1	UPI000000DB3C	0	getma.org/pdb.php?prot=GALT7_HUMAN&from=210&to=399&var=R273Q	ENST00000265000		ENSG00000109586	4129		106	2.855		HGNC	p.R273Q	rs775788103,COSM1053245	GALNT7	0.000121	SNV						0,1	ENST00000265000	protein_coding	getma.org/?cm=var&var=hg19,4,174216610,G,A&fts=all		hmmpanther:PTHR11675:SF31,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		R/Q		A	medium	901/4307	1.50E-05	getma.org/?cm=msa&ty=f&p=GALT7_HUMAN&rb=210&re=399&var=R273Q	deleterious(0.01)	Q4W5F7_HUMAN			YES	GALNT7,missense_variant,p.Arg273Gln,ENST00000265000,NM_017423.2;GALNT7,missense_variant,p.Arg70Gln,ENST00000505308,;GALNT7,missense_variant,p.Arg273Gln,ENST00000512285,;GALNT7,non_coding_transcript_exon_variant,,ENST00000502407,;GALNT7,upstream_gene_variant,,ENST00000506317,;	0.000116				0,1		MODERATE	818/1974	R273Q	GALT7_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000265000	3.29E-05	CCDS3815.1			1	
NDUFV2	0	LGGM	GRCh37	18	9122527	9122527	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	163	13	.	.	ENST00000318388.6:c.317A>T	p.Gln106Leu	p.Q106L	ENST00000318388	NM_021074.4	106	cAa/cTa	0	1	1	UPI0000052A59	0	getma.org/pdb.php?prot=NDUV2_HUMAN&from=63&to=209&var=Q106L	ENST00000318388		ENSG00000178127	7717		176	1.955		HGNC	p.Q109L		NDUFV2		SNV			1				ENST00000400033	protein_coding	getma.org/?cm=var&var=hg19,18,9122527,A,T&fts=all		hmmpanther:PTHR10371,hmmpanther:PTHR10371:SF3,Pfam_domain:PF01257,TIGRFAM_domain:TIGR01958,Superfamily_domains:SSF52833		Q/L		T	medium	431/930		getma.org/?cm=msa&ty=f&p=NDUV2_HUMAN&rb=63&re=209&var=Q106L	deleterious(0)				YES	NDUFV2,missense_variant,p.Gln109Leu,ENST00000400033,;NDUFV2,missense_variant,p.Gln106Leu,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,downstream_gene_variant,,ENST00000483511,;NDUFV2,upstream_gene_variant,,ENST00000474740,;NDUFV2,downstream_gene_variant,,ENST00000583375,;NDUFV2,downstream_gene_variant,,ENST00000577703,;NDUFV2,downstream_gene_variant,,ENST00000474350,;							MODERATE	317/750	Q106L	NDUV2_HUMAN			Transcript		benign(0.21)	.	ENSP00000327268		CCDS11842.1			1	
DCC	0	LGGM	GRCh37	18	50589744	50589744	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H050604	H050604N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	135	13	.	.	ENST00000442544.2:c.1055G>A	p.Cys352Tyr	p.C352Y	ENST00000442544	NM_005215.3	352	tGt/tAt	0	1	1	UPI00001AEDC6	0	getma.org/pdb.php?prot=DCC_HUMAN&from=331&to=417&var=C352Y	ENST00000442544		ENSG00000187323	2701		148	3.015		HGNC	p.C7Y	COSM190377	DCC		SNV			1			1	ENST00000581580	protein_coding	getma.org/?cm=var&var=hg19,18,50589744,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/Y		A	medium	1671/5721		getma.org/?cm=msa&ty=f&p=DCC_HUMAN&rb=331&re=417&var=C352Y	deleterious(0)	J3QQJ6_HUMAN			YES	DCC,missense_variant,p.Cys352Tyr,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Cys7Tyr,ENST00000581580,;DCC,missense_variant,p.Cys200Tyr,ENST00000412726,;DCC,missense_variant,p.Cys7Tyr,ENST00000578949,;DCC,non_coding_transcript_exon_variant,,ENST00000580146,;DCC,missense_variant,p.Cys286Tyr,ENST00000304775,;DCC,non_coding_transcript_exon_variant,,ENST00000579883,;					1		MODERATE	1055/4344	C352Y	DCC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000389140		CCDS11952.1			1	
DPM1	0	LGGM	GRCh37	20	49552748	49552748	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	130	14	.	.	ENST00000371588.5:c.615A>G	p.Lys205=	p.K205=	ENST00000371588	NM_003859.1	205	aaA/aaG	0	1	1	UPI0000129751	0		ENST00000371588		ENSG00000000419	3005		144			HGNC	p.K232K		DPM1		SNV			1				ENST00000371582	protein_coding			hmmpanther:PTHR10859,hmmpanther:PTHR10859:SF37,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		K		C		642/1075							YES	DPM1,synonymous_variant,p.=,ENST00000371582,;DPM1,synonymous_variant,p.=,ENST00000371588,NM_003859.1;DPM1,synonymous_variant,p.=,ENST00000371584,;DPM1,synonymous_variant,p.=,ENST00000371583,;DPM1,synonymous_variant,p.=,ENST00000413082,;ADNP,upstream_gene_variant,,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,upstream_gene_variant,,ENST00000396032,NM_181442.1;AL034553.1,upstream_gene_variant,,ENST00000584882,;RP5-914P20.5,intron_variant,,ENST00000558899,;DPM1,non_coding_transcript_exon_variant,,ENST00000466152,;DPM1,non_coding_transcript_exon_variant,,ENST00000494752,;							LOW	615/783		DPM1_HUMAN			Transcript			.	ENSP00000360644		CCDS13434.1			1	
AHNAK	0	LGGM	GRCh37	11	62295300	62295300	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H050604	H050604N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	244	16	.	.	ENST00000378024.4:c.6589A>G	p.Lys2197Glu	p.K2197E	ENST00000378024	NM_001620.2	2197	Aaa/Gaa	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		260	2.24		HGNC	p.K2197E		AHNAK		SNV							ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62295300,T,C&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		K/E		C	medium	6864/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=2001&re=2200&var=K2197E		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Lys2197Glu,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;							MODERATE	6589/17673	K2197E	AHNK_HUMAN			Transcript		benign(0.356)	.	ENSP00000367263		CCDS31584.1			1	
MYOM3	0	LGGM	GRCh37	1	24394497	24394497	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H050604	H050604N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	128	20	.	.	ENST00000374434.3:c.3318G>A	p.Lys1106=	p.K1106=	ENST00000374434	NM_152372.3	1106	aaG/aaA	0	1	1	UPI0000203A5D	0		ENST00000374434		ENSG00000142661	26679		148			HGNC	p.K1106K		MYOM3		SNV							ENST00000329601	protein_coding			hmmpanther:PTHR19900:SF35,hmmpanther:PTHR19900,Low_complexity_(Seg):seg		K		T		3481/5804							YES	MYOM3,synonymous_variant,p.=,ENST00000330966,;MYOM3,synonymous_variant,p.=,ENST00000374434,NM_152372.3;MYOM3,synonymous_variant,p.=,ENST00000329601,;MYOM3,upstream_gene_variant,,ENST00000338909,;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;							LOW	3318/4314		MYOM3_HUMAN			Transcript			.	ENSP00000363557		CCDS41281.1			1	
AMY1B	0	LGGM	GRCh37	1	104234120	104234120	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H050604	H050604N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H050604N.bam, H050604T.bam	Illumina HiSeq	88	21	.	.	ENST00000330330.5:c.991T>A	p.Trp331Arg	p.W331R	ENST00000330330	NM_001008218.1	331	Tgg/Agg	0	1	1	UPI0000125AA9	0		ENST00000330330		ENSG00000174876	475		109			HGNC	p.W331R		AMY1B		SNV							ENST00000330330	protein_coding			hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Gene3D:3.20.20.80,Pfam_domain:PF00128,SMART_domains:SM00642,Superfamily_domains:SSF51445		W/R		T		1286/1862			tolerated(0.7)	Q5T085_HUMAN,Q5T084_HUMAN			YES	AMY1B,missense_variant,p.Trp331Arg,ENST00000330330,NM_001008218.1;AMY1B,missense_variant,p.Trp331Arg,ENST00000370080,;AMY1B,downstream_gene_variant,,ENST00000446703,;AMY1B,downstream_gene_variant,,ENST00000425410,;AMY1B,downstream_gene_variant,,ENST00000464691,;							MODERATE	991/1536		AMY1_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000330484		CCDS30783.1			1	
ZNF516	0	LGGM	GRCh37	18	74153292	74153292	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	9	2	.	.	ENST00000443185.2:c.1719C>T	p.Ser573=	p.S573=	ENST00000443185	NM_014643.3	573	tcC/tcT	0	1	1	UPI00001394A1	0		ENST00000443185		ENSG00000101493	28990		11			HGNC	p.S573S	rs372924540	ZNF516		SNV	A:0						ENST00000443185	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3		S	A:0.0001	A		2037/8619	5.21E-05			F5H2K2_HUMAN			YES	ZNF516,synonymous_variant,p.=,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;							LOW	1719/3492		ZN516_HUMAN			Transcript			.	ENSP00000394757	3.35E-05				1	
TLX2	0	LGGM	GRCh37	2	74742011	74742011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	10	2	.	.	ENST00000233638.7:c.78C>A	p.Ser26Arg	p.S26R	ENST00000233638	NM_016170.4	26	agC/agA	0	1	1	UPI0000137060	0	NA	ENST00000233638		ENSG00000115297	5057		12	1.935		HGNC	p.S26R		TLX2		SNV							ENST00000233638	protein_coding	getma.org/?cm=var&var=hg19,2,74742011,C,A&fts=all		hmmpanther:PTHR24326:SF117,hmmpanther:PTHR24326		S/R		A	medium	401/2136		getma.org/?cm=msa&ty=f&p=TLX2_HUMAN&rb=1&re=157&var=S26R	deleterious(0.01)				YES	TLX2,missense_variant,p.Ser26Arg,ENST00000233638,NM_016170.4;DQX1,downstream_gene_variant,,ENST00000404568,NM_133637.2;DQX1,downstream_gene_variant,,ENST00000393951,;TLX2,intron_variant,,ENST00000497238,;DQX1,downstream_gene_variant,,ENST00000473508,;DQX1,downstream_gene_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;							MODERATE	78/855	S26R	TLX2_HUMAN			Transcript		benign(0.033)	.	ENSP00000233638		CCDS1947.1			1	
ZFAND5	0	LGGM	GRCh37	9	74979378	74979378	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	14	2	.	.	ENST00000237937.3:c.-7+234G>T		*3*	ENST00000237937	NM_006007.3			0	1	1	UPI000013C322	0		ENST00000237937		ENSG00000107372	13008		16			HGNC	p.T49T		ZFAND5		SNV							ENST00000376956	protein_coding							A		-/5728							YES	ZFAND5,splice_region_variant,,ENST00000343431,NM_001278245.1,NM_001278243.1;ZFAND5,splice_region_variant,p.=,ENST00000376956,;ZFAND5,intron_variant,,ENST00000237937,NM_006007.3,NM_001102421.2,NM_001278244.1;ZFAND5,intron_variant,,ENST00000376962,NM_001102420.2;ZFAND5,intron_variant,,ENST00000376960,;ZFAND5,intron_variant,,ENST00000487330,;ZFAND5,upstream_gene_variant,,ENST00000488164,;ZFAND5,upstream_gene_variant,,ENST00000471197,;							MODIFIER	-/642		ZFAN5_HUMAN			Transcript			.	ENSP00000237937		CCDS6642.1			1	
TGFB2	0	LGGM	GRCh37	1	218520382	218520382	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	7	2	.	.	ENST00000366929.4:c.339C>A	p.Pro113=	p.P113=	ENST00000366929	NM_001135599.2	113	ccC/ccA	0	1		UPI000002BEF5	0		ENST00000366930		ENSG00000092969	11768		9			HGNC	p.P113P		TGFB2		SNV			1				ENST00000366929	protein_coding			PIRSF_domain:PIRSF001787,Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141		P		A		806/4969								TGFB2,synonymous_variant,p.=,ENST00000366929,NM_001135599.2;TGFB2,synonymous_variant,p.=,ENST00000366930,NM_003238.3;RP11-224O19.2,upstream_gene_variant,,ENST00000414452,;TGFB2,non_coding_transcript_exon_variant,,ENST00000488793,;							LOW	339/1245		TGFB2_HUMAN			Transcript			.	ENSP00000355897		CCDS1521.1			1	
MUC4	0	LGGM	GRCh37	3	195506267	195506267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	1	2	.	.	ENST00000463781.3:c.12184G>A	p.Ala4062Thr	p.A4062T	ENST00000463781	NM_018406.6	4062	Gcc/Acc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		3	0.55		HGNC	p.A4062T	rs199833358,rs370995233,COSM4157558	MUC4		SNV				0.00161		0,0,1	ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195506267,C,T&fts=all	T:0.0129,T:0.0129	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		A/T		T	neutral	12644/17110	0.000558	getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=A4062T		O75456_HUMAN,E9PDY6_HUMAN	T:0,T:0	T:0.001,T:0.001	YES	MUC4,missense_variant,p.Ala4062Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala4062Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala4062Thr,ENST00000478156,;MUC4,missense_variant,p.Ala4062Thr,ENST00000466475,;MUC4,missense_variant,p.Ala4062Thr,ENST00000477756,;MUC4,missense_variant,p.Ala4062Thr,ENST00000477086,;MUC4,missense_variant,p.Ala4062Thr,ENST00000480843,;MUC4,missense_variant,p.Ala4062Thr,ENST00000462323,;MUC4,missense_variant,p.Ala4062Thr,ENST00000470451,;MUC4,missense_variant,p.Ala4062Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	0.0122	T:0.0066			0,0,1		MODERATE	12184/16239	A4062T			T:0.001,T:0.001	Transcript		possibly_damaging(0.494)	common_variant	ENSP00000417498	0.000183	CCDS54700.1		T:0.0143,T:0.0143	1	
PAFAH1B1	0	LGGM	GRCh37	17	2575977	2575977	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	17	2	.	.	ENST00000397195.5:c.597C>A	p.Ala199=	p.A199=	ENST00000397195	NM_000430.3	199	gcC/gcA	0	1	1	UPI0000163BF4	0		ENST00000397195		ENSG00000007168	8574		19			HGNC	p.A28A		PAFAH1B1		SNV			1				ENST00000451360	protein_coding			Gene3D:2.130.10.10,HAMAP:MF_03141,Pfam_domain:PF00400,PIRSF_domain:PIRSF037647,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF390,SMART_domains:SM00320,Superfamily_domains:SSF50978		A		A		1048/5497				I3L495_HUMAN,B4DZN3_HUMAN			YES	PAFAH1B1,synonymous_variant,p.=,ENST00000397195,NM_000430.3;PAFAH1B1,synonymous_variant,p.=,ENST00000451360,;PAFAH1B1,synonymous_variant,p.=,ENST00000574468,;PAFAH1B1,non_coding_transcript_exon_variant,,ENST00000572915,;PAFAH1B1,non_coding_transcript_exon_variant,,ENST00000397193,;PAFAH1B1,intron_variant,,ENST00000574816,;PAFAH1B1,downstream_gene_variant,,ENST00000609078,;PAFAH1B1,upstream_gene_variant,,ENST00000571495,;							LOW	597/1233		LIS1_HUMAN			Transcript			.	ENSP00000380378		CCDS32528.1			1	
HTR6	0	LGGM	GRCh37	1	19992425	19992425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	11	2	.	.	ENST00000289753.1:c.179C>A	p.Thr60Lys	p.T60K	ENST00000289753	NM_000871.1	60	aCg/aAg	0	1	1	UPI00000503E0	0	getma.org/pdb.php?prot=5HT6R_HUMAN&from=43&to=320&var=T60K	ENST00000289753		ENSG00000158748	5301		13	1.415		HGNC	p.T60K		HTR6		SNV							ENST00000289753	protein_coding	getma.org/?cm=var&var=hg19,1,19992425,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01102,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF90,Superfamily_domains:SSF81321		T/K		A	low	646/1984		getma.org/?cm=msa&ty=f&p=5HT6R_HUMAN&rb=43&re=320&var=T60K	deleterious(0.02)				YES	HTR6,missense_variant,p.Thr60Lys,ENST00000289753,NM_000871.1;							MODERATE	179/1323	T60K	5HT6R_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000289753		CCDS197.1			1	
ALPK1	0	LGGM	GRCh37	4	113333020	113333020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	12	3	.	.	ENST00000458497.1:c.314C>A	p.Ala105Glu	p.A105E	ENST00000458497	NM_001102406.1	105	gCg/gAg	0	1		UPI000045725F	0	NA	ENST00000177648		ENSG00000073331	20917		15	1.79		HGNC	p.C53X	rs768970546	ALPK1	0.000134	SNV							ENST00000509722	protein_coding	getma.org/?cm=var&var=hg19,4,113333020,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187		A/E		A	low	514/4537		getma.org/?cm=msa&ty=f&p=ALPK1_HUMAN&rb=1&re=507&var=A105E	tolerated(0.19)					ALPK1,missense_variant,p.Ala105Glu,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,missense_variant,p.Ala105Glu,ENST00000177648,;ALPK1,missense_variant,p.Ala27Glu,ENST00000504176,NM_001253884.1;ALPK1,non_coding_transcript_exon_variant,,ENST00000505912,;ALPK1,stop_gained,p.Cys53Ter,ENST00000509722,;ALPK1,stop_gained,p.Cys53Ter,ENST00000515106,;ALPK1,missense_variant,p.Ala105Glu,ENST00000505127,;ALPK1,missense_variant,p.Ala105Glu,ENST00000515330,;ALPK1,non_coding_transcript_exon_variant,,ENST00000504745,;							MODERATE	314/3735	A105E	ALPK1_HUMAN			Transcript		benign(0.024)	.	ENSP00000177648	1.65E-05	CCDS3697.1			1	
PIWIL3	0	LGGM	GRCh37	22	25158370	25158370	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	28	3	.	.	ENST00000332271.5:c.97G>T	p.Ala33Ser	p.A33S	ENST00000332271	NM_001255975.1	33	Gct/Tct	0	1	1	UPI00002073D6	0	NA	ENST00000332271		ENSG00000184571	18443		31	1.59		HGNC	p.A33S		PIWIL3		SNV							ENST00000332271	protein_coding	getma.org/?cm=var&var=hg19,22,25158370,C,A&fts=all		hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892		A/S		A	low	514/3504		getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=1&re=200&var=A33S	tolerated(0.75)				YES	PIWIL3,missense_variant,p.Ala33Ser,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,;							MODERATE	97/2649	A33S	PIWL3_HUMAN			Transcript		benign(0.227)	.	ENSP00000330031		CCDS33623.1			1	
PTPN5	0	LGGM	GRCh37	11	18762224	18762224	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	29	3	.	.	ENST00000358540.2:c.841G>A	p.Ala281Thr	p.A281T	ENST00000358540	NM_006906.1	281	Gcc/Acc	0	1	1	UPI00001AE663	0	getma.org/pdb.php?prot=PTN5_HUMAN&from=201&to=322&var=A281T	ENST00000358540		ENSG00000110786	9657		32	1.77		HGNC	p.A257T		PTPN5		SNV							ENST00000396168	protein_coding	getma.org/?cm=var&var=hg19,11,18762224,C,T&fts=all		hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR01778		A/T		T	low	1272/3135		getma.org/?cm=msa&ty=f&p=PTN5_HUMAN&rb=201&re=322&var=A281T	deleterious(0.02)	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN			YES	PTPN5,missense_variant,p.Ala249Thr,ENST00000396170,NM_001278236.1;PTPN5,missense_variant,p.Ala281Thr,ENST00000358540,NM_006906.1;PTPN5,missense_variant,p.Ala281Thr,ENST00000396171,NM_032781.3;PTPN5,missense_variant,p.Ala249Thr,ENST00000396167,NM_001278239.1,NM_001039970.1;PTPN5,missense_variant,p.Ala85Thr,ENST00000477854,;PTPN5,missense_variant,p.Ala257Thr,ENST00000396168,NM_001278238.1;RP11-1081L13.4,downstream_gene_variant,,ENST00000527285,;PTPN5,downstream_gene_variant,,ENST00000496201,;							MODERATE	841/1698	A281T	PTN5_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000351342		CCDS7845.1			1	
ARID5B	0	LGGM	GRCh37	10	63759960	63759960	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	40	3	.	.	ENST00000279873.7:c.613C>A	p.Gln205Lys	p.Q205K	ENST00000279873	NM_032199.2	205	Cag/Aag	0	1	1	UPI00001606F0	0	NA	ENST00000279873		ENSG00000150347	17362		43	0.695		HGNC	p.Q205K		ARID5B		SNV			1				ENST00000279873	protein_coding	getma.org/?cm=var&var=hg19,10,63759960,C,A&fts=all		hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22		Q/K		A	neutral	1023/7891		getma.org/?cm=msa&ty=f&p=ARI5B_HUMAN&rb=1&re=213&var=Q205K	tolerated(0.14)				YES	ARID5B,missense_variant,p.Gln205Lys,ENST00000279873,NM_032199.2;							MODERATE	613/3567	Q205K	ARI5B_HUMAN			Transcript		possibly_damaging(0.693)	.	ENSP00000279873		CCDS31208.1			1	
TBC1D2B	0	LGGM	GRCh37	15	78316536	78316536	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	36	3	.	.	ENST00000300584.3:c.1432C>T	p.Pro478Ser	p.P478S	ENST00000300584	NM_144572.1	478	Cct/Tct	0	1	1	UPI0000E02247	0	NA	ENST00000300584		ENSG00000167202	29183		39	0.75		HGNC	p.P478S		TBC1D2B		SNV							ENST00000300584	protein_coding	getma.org/?cm=var&var=hg19,15,78316536,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF231		P/S		A	neutral	1432/6067		getma.org/?cm=msa&ty=f&p=TBD2B_HUMAN&rb=149&re=588&var=P478S	tolerated(0.39)	Q69YW7_HUMAN,B2RTQ2_HUMAN			YES	TBC1D2B,missense_variant,p.Pro478Ser,ENST00000409931,;TBC1D2B,missense_variant,p.Pro478Ser,ENST00000300584,NM_144572.1,NM_015079.5;TBC1D2B,downstream_gene_variant,,ENST00000435468,;TBC1D2B,downstream_gene_variant,,ENST00000486703,;							MODERATE	1432/2892	P478S	TBD2B_HUMAN			Transcript		benign(0.003)	.	ENSP00000300584		CCDS45314.1			1	
TRIM58	0	LGGM	GRCh37	1	248031323	248031323	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	12	4	.	.	ENST00000366481.3:c.829T>C	p.Cys277Arg	p.C277R	ENST00000366481	NM_015431.3	277	Tgc/Cgc	0	1	1	UPI000020590E	0	NA	ENST00000366481		ENSG00000162722	24150		16	1.785		HGNC	p.C277R		TRIM58		SNV							ENST00000366481	protein_coding	getma.org/?cm=var&var=hg19,1,248031323,T,C&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103		C/R		C	low	877/3225		getma.org/?cm=msa&ty=f&p=TRI58_HUMAN&rb=273&re=463&var=C277R	tolerated(0.14)				YES	TRIM58,missense_variant,p.Cys277Arg,ENST00000366481,NM_015431.3;OR2W3,5_prime_UTR_variant,,ENST00000537741,;							MODERATE	829/1461	C277R	TRI58_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000355437		CCDS1636.1			1	
DNAH7	0	LGGM	GRCh37	2	196729626	196729626	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	83	4	.	.	ENST00000312428.6:c.6753T>C	p.Arg2251=	p.R2251=	ENST00000312428	NM_018897.2	2251	cgT/cgC	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		87			HGNC	p.R2251R		DNAH7		SNV							ENST00000312428	protein_coding			PROSITE_profiles:PS50222,hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676		R		G		6854/12394				C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;							LOW	6753/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273		CCDS42794.1			1	
GRIK3	0	LGGM	GRCh37	1	37267547	37267547	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	11	5	.	.	ENST00000373091.3:c.2665G>A	p.Asp889Asn	p.D889N	ENST00000373091	NM_000831.3	889	Gac/Aac	0	1	1	UPI000013E311	0	NA	ENST00000373091		ENSG00000163873	4581		16	0.895		HGNC	p.D889N		GRIK3		SNV							ENST00000373091	protein_coding	getma.org/?cm=var&var=hg19,1,37267547,C,T&fts=all		hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966		D/N		T	low	2682/9101		getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=833&re=919&var=D889N	deleterious_low_confidence(0.05)	Q96SC0_HUMAN			YES	GRIK3,missense_variant,p.Asp889Asn,ENST00000373091,NM_000831.3;GRIK3,downstream_gene_variant,,ENST00000373093,;							MODERATE	2665/2760	D889N	GRIK3_HUMAN			Transcript		benign(0.142)	.	ENSP00000362183		CCDS416.1			1	
BPIFB4	0	LGGM	GRCh37	20	31672737	31672737	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	7	6	.	.	ENST00000375483.3:c.717G>A	p.Val239=	p.V239=	ENST00000375483	NM_182519.2	239	gtG/gtA	0	1	1	UPI0000206190	0		ENST00000375483		ENSG00000186191	16179	8.84E-05	13			HGNC	p.V239V	rs764729066	BPIFB4		SNV							ENST00000375483	protein_coding			hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,Pfam_domain:PF01273,Gene3D:1ewfA01,SMART_domains:SM00328,Superfamily_domains:SSF55394		V		A		717/2159							YES	BPIFB4,synonymous_variant,p.=,ENST00000375483,NM_182519.2;BPIFB4,intron_variant,,ENST00000445356,;							LOW	717/1845		BPIB4_HUMAN			Transcript			.	ENSP00000364632	8.24E-06	CCDS13213.2			1	
ARSD	0	LGGM	GRCh37	X	2835999	2836007	+	inframe_deletion	In_Frame_Del	DEL	CCACGCCGG	CCACGCCGG	-	novel	by Submitter	H060018	H060018N.bam	CCACGCCGG	CCACGCCGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	12	8	.	.	ENST00000381154.1:c.701_709delCCGGCGTGG	p.Ala234_Val236del	p.A234_V236del	ENST00000381154	NM_001669.3	234	gCCGGCGTGGgc/ggc	0	1	1	UPI0000070902	0		ENST00000381154		ENSG00000006756	717	0.000335	20			HGNC	p.234_237del	rs113556864,COSM1467378	ARSD	0.000313	deletion	-:0.1212			0.00125		0,1	ENST00000381154	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF53649,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF200		AGVG/G	-:0.2184	-		777-785/5159	0.0012						YES	ARSD,inframe_deletion,p.Ala234_Val236del,ENST00000381154,NM_001669.3;ARSD,non_coding_transcript_exon_variant,,ENST00000217890,;ARSD,intron_variant,,ENST00000495294,;ARSD,upstream_gene_variant,,ENST00000481340,;ARSD,downstream_gene_variant,,ENST00000494870,;ARSD,downstream_gene_variant,,ENST00000559324,;	0.00047				0,1		MODERATE	701-709/1782		ARSD_HUMAN	0.00259		Transcript			common_variant	ENSP00000370546	0.215	CCDS35196.1			1	
C5orf42	0	LGGM	GRCh37	5	37157955	37157955	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	11	8	.	.	ENST00000425232.2:c.7813-39A>G		*2605*	ENST00000425232	NM_023073.3			0	1	1	UPI0001AAB3EA	0		ENST00000425232		ENSG00000197603	25801		19			HGNC	p.I1490V		C5orf42		SNV			1				ENST00000274258	protein_coding							C		-/11199							YES	C5orf42,missense_variant,p.Ile1490Val,ENST00000274258,;C5orf42,missense_variant,p.Ile1658Val,ENST00000514429,;C5orf42,missense_variant,p.Ile301Val,ENST00000511824,;C5orf42,intron_variant,,ENST00000425232,NM_023073.3;C5orf42,intron_variant,,ENST00000508244,;C5orf42,intron_variant,,ENST00000511210,;C5orf42,upstream_gene_variant,,ENST00000508405,;C5orf42,missense_variant,p.Ile1614Val,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000509957,;C5orf42,non_coding_transcript_exon_variant,,ENST00000515380,;C5orf42,intron_variant,,ENST00000510830,;							MODIFIER	-/9594		CE042_HUMAN			Transcript			.	ENSP00000389014		CCDS34146.2			1	
C9orf169	0	LGGM	GRCh37	9	140120172	140120172	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	7	8	.	.	ENST00000359069.2:c.99T>C	p.Ala33=	p.A33=	ENST00000359069	NM_199001.2	33	gcT/gcC	0	1	1	UPI0000210E62	0		ENST00000359069		ENSG00000197191	30529		15			HGNC	p.A33A		C9orf169		SNV							ENST00000359069	protein_coding			Pfam_domain:PF10631		A		C		149/739							YES	C9orf169,synonymous_variant,p.=,ENST00000409414,;C9orf169,synonymous_variant,p.=,ENST00000359069,NM_199001.2;RNF224,upstream_gene_variant,,ENST00000445101,NM_001190228.1;RNF208,upstream_gene_variant,,ENST00000392827,;RNF208,upstream_gene_variant,,ENST00000391553,NM_031297.4;							LOW	99/435		CI169_HUMAN			Transcript			.	ENSP00000351967		CCDS48064.1			1	
ARMC4	0	LGGM	GRCh37	10	28228860	28228860	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	18	9	.	.	ENST00000305242.5:c.2063A>G	p.Gln688Arg	p.Q688R	ENST00000305242	NM_018076.2	688	cAg/cGg	0	1	1	UPI00001A95E1	0	getma.org/pdb.php?prot=ARMC4_HUMAN&from=604&to=844&var=Q688R	ENST00000305242		ENSG00000169126	25583		27	0.55		HGNC	p.Q213R		ARMC4		SNV			1				ENST00000545014	protein_coding	getma.org/?cm=var&var=hg19,10,28228860,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		Q/R		C	neutral	2156/3572		getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=604&re=844&var=Q688R	deleterious(0)	R4GN11_HUMAN,A8K906_HUMAN			YES	ARMC4,missense_variant,p.Gln688Arg,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Gln380Arg,ENST00000537576,;ARMC4,missense_variant,p.Gln213Arg,ENST00000545014,;ARMC4,downstream_gene_variant,,ENST00000480504,;							MODERATE	2063/3135	Q688R	ARMC4_HUMAN			Transcript		benign(0.143)	.	ENSP00000306410		CCDS7157.1			1	
SLC1A3	0	LGGM	GRCh37	5	36677202	36677202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	34	9	.	.	ENST00000265113.4:c.776A>G	p.Asn259Ser	p.N259S	ENST00000265113	NM_004172.4	259	aAc/aGc	0	1	1	UPI0000129B0F	0	getma.org/pdb.php?prot=EAA1_HUMAN&from=50&to=497&var=N259S	ENST00000265113		ENSG00000079215	10941		43	-0.405		HGNC	p.N207S	rs764999249	SLC1A3		SNV			1				ENST00000427100	protein_coding	getma.org/?cm=var&var=hg19,5,36677202,A,G&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00173,Superfamily_domains:0053221,Pfam_domain:PF00375,Gene3D:2nwlC00,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF24		N/S		G	neutral	1252/4170	1.50E-05	getma.org/?cm=msa&ty=f&p=EAA1_HUMAN&rb=50&re=497&var=N259S	tolerated(0.34)	E7EUV6_HUMAN,E7EUS7_HUMAN			YES	SLC1A3,missense_variant,p.Asn259Ser,ENST00000265113,NM_004172.4;SLC1A3,missense_variant,p.Asn259Ser,ENST00000381918,NM_001166695.1;CTD-2353F22.1,intron_variant,,ENST00000510740,;SLC1A3,non_coding_transcript_exon_variant,,ENST00000505376,;SLC1A3,upstream_gene_variant,,ENST00000506178,;							MODERATE	776/1629	N259S	EAA1_HUMAN			Transcript		benign(0.044)	.	ENSP00000265113	8.24E-06	CCDS3919.1			1	
PI4KA	0	LGGM	GRCh37	22	21065114	21065114	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	50	10	.	.	ENST00000255882.6:c.5956G>T	p.Gly1986Cys	p.G1986C	ENST00000255882	NM_058004.3	1986	Ggc/Tgc	0	1	1	UPI0000E06BD6	0	getma.org/pdb.php?prot=PI4KA_HUMAN&from=1786&to=1993&var=G1928C	ENST00000255882		ENSG00000241973	8983		60	3.975		HGNC	p.G738C		PI4KA		SNV							ENST00000414196	protein_coding	getma.org/?cm=var&var=hg19,22,21065114,C,A&fts=all		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15,SMART_domains:SM00146,Superfamily_domains:SSF56112		G/C		A	high	6043/6752		getma.org/?cm=msa&ty=f&p=PI4KA_HUMAN&rb=1786&re=1993&var=G1928C	deleterious(0)	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN			YES	PI4KA,missense_variant,p.Gly1986Cys,ENST00000255882,NM_058004.3;PI4KA,missense_variant,p.Gly1928Cys,ENST00000572273,;PI4KA,missense_variant,p.Gly738Cys,ENST00000414196,NM_002650.2;PI4KA,missense_variant,p.Gly319Cys,ENST00000399213,;PI4KA,non_coding_transcript_exon_variant,,ENST00000492581,;PI4KA,non_coding_transcript_exon_variant,,ENST00000466772,;PI4KA,non_coding_transcript_exon_variant,,ENST00000477245,;PI4KA,non_coding_transcript_exon_variant,,ENST00000482030,;PI4KA,downstream_gene_variant,,ENST00000466394,;							MODERATE	5956/6309	G1928C				Transcript		probably_damaging(1)	.	ENSP00000255882		CCDS33603.2			1	
PI4KA	0	LGGM	GRCh37	22	21065113	21065113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	50	10	.	.	ENST00000255882.6:c.5957G>T	p.Gly1986Val	p.G1986V	ENST00000255882	NM_058004.3	1986	gGc/gTc	0	1	1	UPI0000E06BD6	0	getma.org/pdb.php?prot=PI4KA_HUMAN&from=1786&to=1993&var=G1928V	ENST00000255882		ENSG00000241973	8983		60	3.975		HGNC	p.G738V		PI4KA		SNV							ENST00000414196	protein_coding	getma.org/?cm=var&var=hg19,22,21065113,C,A&fts=all		Gene3D:1.10.1070.11,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15,SMART_domains:SM00146,Superfamily_domains:SSF56112		G/V		A	high	6044/6752		getma.org/?cm=msa&ty=f&p=PI4KA_HUMAN&rb=1786&re=1993&var=G1928V	deleterious(0)	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN			YES	PI4KA,missense_variant,p.Gly1986Val,ENST00000255882,NM_058004.3;PI4KA,missense_variant,p.Gly1928Val,ENST00000572273,;PI4KA,missense_variant,p.Gly738Val,ENST00000414196,NM_002650.2;PI4KA,missense_variant,p.Gly319Val,ENST00000399213,;PI4KA,non_coding_transcript_exon_variant,,ENST00000492581,;PI4KA,non_coding_transcript_exon_variant,,ENST00000466772,;PI4KA,non_coding_transcript_exon_variant,,ENST00000477245,;PI4KA,non_coding_transcript_exon_variant,,ENST00000482030,;PI4KA,downstream_gene_variant,,ENST00000466394,;							MODERATE	5957/6309	G1928V				Transcript		probably_damaging(1)	.	ENSP00000255882		CCDS33603.2			1	
FBN2	0	LGGM	GRCh37	5	127614460	127614460	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	23	12	.	.	ENST00000508053.1:c.7212C>T	p.Leu2404=	p.L2404=	ENST00000508053		2404	ctC/ctT	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		35			HGNC	p.L2404L	rs368506842,COSM4155434,COSM4155433	FBN2		SNV	A:0.0005		1	0.000384		0,1,1	ENST00000262464	protein_coding		A:0.0008	Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581		L	A:0	A		7651/10724	3.00E-05				A:0	A:0		FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;		A:0.0002			0,1,1		LOW	7212/8739		FBN2_HUMAN		A:0	Transcript			.	ENSP00000262464	4.94E-05	CCDS34222.1		A:0	1	
OR10G3	0	LGGM	GRCh37	14	22038874	22038874	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	22	13	.	.	ENST00000303532.1:c.2T>C	p.Met1?	p.M1?	ENST00000303532	NM_001005465.1	1	aTg/aCg	0	1	1	UPI000003CAB2	0	NA	ENST00000303532		ENSG00000169208	8171		35	0		HGNC	p.M1T		OR10G3		SNV							ENST00000303532	protein_coding	getma.org/?cm=var&var=hg19,14,22038874,A,G&fts=all		hmmpanther:PTHR26453:SF69,hmmpanther:PTHR26453,Superfamily_domains:SSF81321		M/T		G	NA	2/942		http://getma.org/?cm=msa&ty=f&p=O10G3_HUMAN&rb=1&re=139&var=M1T	deleterious(0)				YES	OR10G3,start_lost,p.Met1?,ENST00000303532,NM_001005465.1;							HIGH	2/942	M1T	O10G3_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000302437		CCDS32046.1			1	
DNAJC25	0	LGGM	GRCh37	9	114411819	114411819	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	21	13	.	.	ENST00000313525.3:c.576C>T	p.Ala192=	p.A192=	ENST00000313525	NM_001015882.2	192	gcC/gcT	0	1	1	UPI000006F186	0		ENST00000313525		ENSG00000059769	34187		34			HGNC	p.A192A		DNAJC25		SNV							ENST00000313525	protein_coding			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF125,Low_complexity_(Seg):seg		A		T		632/2268							YES	DNAJC25,synonymous_variant,p.=,ENST00000313525,NM_001015882.2;DNAJC25-GNG10,intron_variant,,ENST00000374294,NM_004125.3;DNAJC25,intron_variant,,ENST00000556107,;DNAJC25,3_prime_UTR_variant,,ENST00000463589,;DNAJC25,3_prime_UTR_variant,,ENST00000447096,;							LOW	576/1083		DJC25_HUMAN			Transcript			.	ENSP00000320650		CCDS43862.1			1	
TATDN2	0	LGGM	GRCh37	3	10320683	10320683	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	15	13	.	.	ENST00000287652.4:c.2260A>T	p.Asn754Tyr	p.N754Y	ENST00000287652	NM_014760.3	754	Aac/Tac	0	1	1	UPI000013DEC1	0	getma.org/pdb.php?prot=TATD2_HUMAN&from=496&to=760&var=N754Y	ENST00000287652		ENSG00000157014	28988		28	3.595		HGNC	p.N754Y		TATDN2		SNV							ENST00000448281	protein_coding	getma.org/?cm=var&var=hg19,3,10320683,A,T&fts=all		hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19,Gene3D:3.20.20.140,Pfam_domain:PF01026,Superfamily_domains:SSF51556		N/Y		T	high	3311/5342		getma.org/?cm=msa&ty=f&p=TATD2_HUMAN&rb=496&re=760&var=N754Y	deleterious(0)	H7BZJ2_HUMAN			YES	TATDN2,missense_variant,p.Asn754Tyr,ENST00000287652,NM_014760.3;TATDN2,missense_variant,p.Asn754Tyr,ENST00000448281,;TATDN2,missense_variant,p.Asn175Tyr,ENST00000426850,;TATDN2,non_coding_transcript_exon_variant,,ENST00000496355,;RP11-438J1.1,3_prime_UTR_variant,,ENST00000450534,;RP11-438J1.1,3_prime_UTR_variant,,ENST00000437082,;							MODERATE	2260/2286	N754Y	TATD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000287652		CCDS33698.1			1	
DNAH5	0	LGGM	GRCh37	5	13841804	13841804	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	28	13	.	.	ENST00000265104.4:c.5481T>C	p.Ala1827=	p.A1827=	ENST00000265104	NM_001369.2	1827	gcT/gcC	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		41			HGNC	p.A1827A		DNAH5		SNV			1				ENST00000265104	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		A		G		5586/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;							LOW	5481/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
SF3A3	0	LGGM	GRCh37	1	38442587	38442587	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	18	13	.	.	ENST00000373019.4:c.974C>T	p.Ala325Val	p.A325V	ENST00000373019	NM_006802.2	325	gCc/gTc	0	1	1	UPI0000135469	0	NA	ENST00000373019		ENSG00000183431	10767		31	1.69		HGNC	p.A325V		SF3A3		SNV							ENST00000373019	protein_coding	getma.org/?cm=var&var=hg19,1,38442587,G,A&fts=all		Pfam_domain:PF11931,hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF2		A/V		A	low	1930/3673		getma.org/?cm=msa&ty=f&p=SF3A3_HUMAN&rb=321&re=500&var=A325V	tolerated(0.1)				YES	SF3A3,missense_variant,p.Ala325Val,ENST00000373019,NM_006802.2;SF3A3,missense_variant,p.Ala272Val,ENST00000448721,;SF3A3,non_coding_transcript_exon_variant,,ENST00000460925,;SF3A3,downstream_gene_variant,,ENST00000489537,;SF3A3,downstream_gene_variant,,ENST00000461869,;SF3A3,downstream_gene_variant,,ENST00000470585,;SF3A3,downstream_gene_variant,,ENST00000488934,;							MODERATE	974/1506	A325V	SF3A3_HUMAN			Transcript		possibly_damaging(0.745)	.	ENSP00000362110		CCDS428.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266103	41266103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	23	13	.	.	ENST00000349496.5:c.100G>A	p.Gly34Arg	p.G34R	ENST00000349496	NM_001904.3	34	Gga/Aga	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=G34R	ENST00000349496		ENSG00000168036	2514		36	2.445		HGNC	p.G34R	rs121913399,COSM5686	CTNNB1		SNV			1			0,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266103,G,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		G/R		A	medium	380/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=G34R	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Gly34Arg,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Gly27Arg,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000405570,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000441708,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	100/2346	G34R	CTNB1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000344456		CCDS2694.1			1	
MAGED2	0	LGGM	GRCh37	X	54839441	54839441	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	4	14	.	.	ENST00000375068.1:c.1149A>T	p.Gly383=	p.G383=	ENST00000375068		383	ggA/ggT	0	1		UPI000000123B	0		ENST00000218439		ENSG00000102316	16353		18			HGNC	p.G383G		MAGED2		SNV							ENST00000375058	protein_coding			PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF11,hmmpanther:PTHR11736,Pfam_domain:PF01454		G		T		1248/1932								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,upstream_gene_variant,,ENST00000408789,NR_002953.1;MAGED2,non_coding_transcript_exon_variant,,ENST00000487463,;MAGED2,non_coding_transcript_exon_variant,,ENST00000487482,;MAGED2,downstream_gene_variant,,ENST00000497484,;MAGED2,downstream_gene_variant,,ENST00000485483,;MAGED2,downstream_gene_variant,,ENST00000463787,;							LOW	1149/1821		MAGD2_HUMAN			Transcript			.	ENSP00000218439		CCDS14362.1			1	
POLQ	0	LGGM	GRCh37	3	121248621	121248621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	17	14	.	.	ENST00000264233.5:c.979G>T	p.Val327Phe	p.V327F	ENST00000264233	NM_199420.3	327	Gtt/Ttt	0	1	1	UPI0000D61B5F	0	getma.org/pdb.php?prot=DPOLQ_HUMAN&from=321&to=554&var=V327F	ENST00000264233		ENSG00000051341	9186		31	2.455		HGNC	p.V327F		POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121248621,C,A&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		V/F		A	medium	1108/8775		getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=321&re=554&var=V327F	deleterious(0)				YES	POLQ,missense_variant,p.Val327Phe,ENST00000264233,NM_199420.3;POLQ,non_coding_transcript_exon_variant,,ENST00000488282,;							MODERATE	979/7773	V327F	DPOLQ_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000264233		CCDS33833.1			1	
SLC38A9	0	LGGM	GRCh37	5	54968425	54968425	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	31	14	.	.	ENST00000396865.2:c.212A>G	p.Tyr71Cys	p.Y71C	ENST00000396865	NM_173514.3	71	tAc/tGc	0	1		UPI00001403C2	0	NA	ENST00000318672		ENSG00000177058	26907		45	1.1		HGNC	p.Y8C		SLC38A9		SNV							ENST00000502247	protein_coding	getma.org/?cm=var&var=hg19,5,54968425,T,C&fts=all		hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF118		Y/C		C	low	248/2368		getma.org/?cm=msa&ty=f&p=S38A9_HUMAN&rb=1&re=114&var=Y71C	deleterious(0)	E7ESU6_HUMAN,D6RIW7_HUMAN,D6RHW0_HUMAN,D6RG31_HUMAN,D6RER8_HUMAN,D6RDH2_HUMAN,D6R9X0_HUMAN,B3KVK8_HUMAN				SLC38A9,missense_variant,p.Tyr71Cys,ENST00000539768,;SLC38A9,missense_variant,p.Tyr71Cys,ENST00000396865,NM_173514.3;SLC38A9,missense_variant,p.Tyr8Cys,ENST00000515629,NM_001258286.1;SLC38A9,missense_variant,p.Tyr71Cys,ENST00000318672,;SLC38A9,missense_variant,p.Tyr44Cys,ENST00000512595,NM_001258287.1;SLC38A9,missense_variant,p.Tyr71Cys,ENST00000511233,;SLC38A9,missense_variant,p.Tyr8Cys,ENST00000512208,;SLC38A9,missense_variant,p.Tyr8Cys,ENST00000503817,;SLC38A9,missense_variant,p.Tyr71Cys,ENST00000513993,;SLC38A9,missense_variant,p.Tyr8Cys,ENST00000502247,;SLC38A9,missense_variant,p.Tyr71Cys,ENST00000503891,;SLC38A9,intron_variant,,ENST00000416547,;SLC38A9,missense_variant,p.Tyr8Cys,ENST00000505708,;SLC38A9,non_coding_transcript_exon_variant,,ENST00000514806,;SLC38A9,intron_variant,,ENST00000508124,NM_001282429.1;SLC38A9,upstream_gene_variant,,ENST00000507447,;							MODERATE	212/1686	Y71C	S38A9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000316596		CCDS3968.1			1	
BPIFB2	0	LGGM	GRCh37	20	31606151	31606151	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	18	15	.	.	ENST00000170150.3:c.664G>C	p.Val222Leu	p.V222L	ENST00000170150	NM_025227.2	222	Gtc/Ctc	0	1	1	UPI00000377B0	0	getma.org/pdb.php?prot=BPIB2_HUMAN&from=201&to=400&var=V222L	ENST00000170150		ENSG00000078898	16177		33	-1.2		HGNC	p.V222L		BPIFB2		SNV							ENST00000170150	protein_coding	getma.org/?cm=var&var=hg19,20,31606151,G,C&fts=all		Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF68,Superfamily_domains:SSF55394		V/L		C	neutral	859/1898		getma.org/?cm=msa&ty=f&p=BPIB2_HUMAN&rb=201&re=400&var=V222L	tolerated(0.8)				YES	BPIFB2,missense_variant,p.Val222Leu,ENST00000170150,NM_025227.2;							MODERATE	664/1377	V222L	BPIB2_HUMAN			Transcript		benign(0.002)	.	ENSP00000170150		CCDS13210.1			1	
SNW1	0	LGGM	GRCh37	14	78189597	78189597	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	17	16	.	.	ENST00000261531.7:c.1057G>T	p.Asp353Tyr	p.D353Y	ENST00000261531	NM_012245.2	353	Gat/Tat	0	1	1	UPI000000DB2D	0	NA	ENST00000261531		ENSG00000100603	16696		33	2.895		HGNC	p.D353Y		SNW1		SNV							ENST00000555761	protein_coding	getma.org/?cm=var&var=hg19,14,78189597,C,A&fts=all		hmmpanther:PTHR12096		D/Y		A	medium	1120/2163		getma.org/?cm=msa&ty=f&p=SNW1_HUMAN&rb=336&re=535&var=D353Y	deleterious(0)	G3V4X8_HUMAN			YES	SNW1,missense_variant,p.Asp353Tyr,ENST00000261531,NM_012245.2;SNW1,missense_variant,p.Asp353Tyr,ENST00000555761,;SNW1,missense_variant,p.Asp191Tyr,ENST00000554775,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,intron_variant,,ENST00000556375,;SLIRP,downstream_gene_variant,,ENST00000557623,;SNW1,3_prime_UTR_variant,,ENST00000556428,;SLIRP,intron_variant,,ENST00000556310,;							MODERATE	1057/1611	D353Y	SNW1_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000261531		CCDS9867.1			1	
DNAH5	0	LGGM	GRCh37	5	13876826	13876826	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	26	16	.	.	ENST00000265104.4:c.3363T>C	p.Ser1121=	p.S1121=	ENST00000265104	NM_001369.2	1121	tcT/tcC	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		42			HGNC	p.S1121S		DNAH5		SNV			1				ENST00000265104	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		S		G		3468/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							LOW	3363/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
LRBA	0	LGGM	GRCh37	4	151727502	151727502	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	15	16	.	.	ENST00000357115.3:c.5439G>C	p.Glu1813Asp	p.E1813D	ENST00000357115	NM_006726.4	1813	gaG/gaC	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		31	2.025		HGNC	p.E1813D		LRBA		SNV			1				ENST00000535741	protein_coding	getma.org/?cm=var&var=hg19,4,151727502,C,G&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64		E/D		G	medium	5683/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=1733&re=1879&var=E1813D	tolerated(0.16)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Glu1813Asp,ENST00000535741,;LRBA,missense_variant,p.Glu1813Asp,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Glu1813Asp,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Glu1813Asp,ENST00000507224,;LRBA,missense_variant,p.Glu466Asp,ENST00000509835,;							MODERATE	5439/8592	E1813D	LRBA_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000349629		CCDS3773.1			1	
SREBF2	0	LGGM	GRCh37	22	42273372	42273372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	17	17	.	.	ENST00000361204.4:c.1526C>T	p.Ser509Phe	p.S509F	ENST00000361204	NM_004599.3	509	tCt/tTt	0	1	1	UPI00001678D0	0	NA	ENST00000361204		ENSG00000198911	11290		34	1.905		HGNC	p.S509F		SREBF2		SNV							ENST00000361204	protein_coding	getma.org/?cm=var&var=hg19,22,42273372,C,T&fts=all		hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565		S/F		T	medium	1692/5240		getma.org/?cm=msa&ty=f&p=SRBP2_HUMAN&rb=382&re=581&var=S509F	deleterious(0)	Q8NCY3_HUMAN			YES	SREBF2,missense_variant,p.Ser509Phe,ENST00000361204,NM_004599.3;SREBF2,missense_variant,p.Ser509Phe,ENST00000424354,;SREBF2,non_coding_transcript_exon_variant,,ENST00000462539,;SREBF2,downstream_gene_variant,,ENST00000464119,;							MODERATE	1526/3426	S509F	SRBP2_HUMAN			Transcript		possibly_damaging(0.498)	.	ENSP00000354476		CCDS14023.1			1	
CD163	0	LGGM	GRCh37	12	7639495	7639495	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	28	17	.	.	ENST00000359156.4:c.2138G>A	p.Cys713Tyr	p.C713Y	ENST00000359156	NM_004244.5	713	tGc/tAc	0	1	1	UPI00004565CC	0	NA	ENST00000359156		ENSG00000177575	1631		45	2.125		HGNC	p.C713Y		CD163		SNV							ENST00000432237	protein_coding	getma.org/?cm=var&var=hg19,12,7639495,C,T&fts=all		hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Superfamily_domains:SSF56487		C/Y		T	medium	2341/4268		getma.org/?cm=msa&ty=f&p=C163A_HUMAN&rb=684&re=721&var=C713Y	deleterious(0.02)				YES	CD163,missense_variant,p.Cys713Tyr,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Cys746Tyr,ENST00000396620,;CD163,missense_variant,p.Cys713Tyr,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Cys701Tyr,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,;							MODERATE	2138/3471	C713Y	C163A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000352071		CCDS8578.1			1	
MBTPS1	0	LGGM	GRCh37	16	84089663	84089663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	19	18	.	.	ENST00000343411.3:c.2909C>A	p.Pro970His	p.P970H	ENST00000343411	NM_003791.2	970	cCt/cAt	0	1	1	UPI0000033348	0	NA	ENST00000343411		ENSG00000140943	15456		37	1.5		HGNC	p.P970H		MBTPS1		SNV							ENST00000343411	protein_coding	getma.org/?cm=var&var=hg19,16,84089663,G,T&fts=all				P/H		T	low	3405/4338		getma.org/?cm=msa&ty=f&p=MBTP1_HUMAN&rb=480&re=1050&var=P970H	deleterious_low_confidence(0.01)	H3BV53_HUMAN			YES	MBTPS1,missense_variant,p.Pro970His,ENST00000343411,NM_003791.2;MBTPS1,non_coding_transcript_exon_variant,,ENST00000562886,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000570064,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000562906,;MBTPS1,downstream_gene_variant,,ENST00000561936,;MBTPS1,downstream_gene_variant,,ENST00000564049,;							MODERATE	2909/3159	P970H	MBTP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000344223		CCDS10941.1			1	
ART1	0	LGGM	GRCh37	11	3681551	3681551	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	20	18	.	.	ENST00000250693.1:c.802G>A	p.Ala268Thr	p.A268T	ENST00000250693	NM_004314.2	268	Gcc/Acc	0	1	1	UPI000013CCC8	0	NA	ENST00000250693		ENSG00000129744	723		38	1.24		HGNC	p.A268T		ART1		SNV							ENST00000250693	protein_coding	getma.org/?cm=var&var=hg19,11,3681551,G,A&fts=all		hmmpanther:PTHR10339:SF19,hmmpanther:PTHR10339,Gene3D:3.90.176.10,Pfam_domain:PF01129,Superfamily_domains:SSF56399		A/T		A	low	903/1312		getma.org/?cm=msa&ty=f&p=NAR1_HUMAN&rb=39&re=274&var=A268T	deleterious(0.01)				YES	ART1,missense_variant,p.Ala268Thr,ENST00000250693,NM_004314.2;Y_RNA,downstream_gene_variant,,ENST00000364409,;Y_RNA,downstream_gene_variant,,ENST00000363331,;ART1,downstream_gene_variant,,ENST00000529556,;							MODERATE	802/984	A268T	NAR1_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000250693		CCDS7744.1			1	
TCEB3B	0	LGGM	GRCh37	18	44559921	44559921	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	25	19	.	.	ENST00000332567.4:c.1715A>G	p.Lys572Arg	p.K572R	ENST00000332567	NM_016427.2	572	aAa/aGa	0	1	1	UPI0000140A82	0	NA	ENST00000332567		ENSG00000206181	30771		44	1.06		HGNC	p.K572R		TCEB3B		SNV							ENST00000332567	protein_coding	getma.org/?cm=var&var=hg19,18,44559921,T,C&fts=all		hmmpanther:PTHR15141:SF7,hmmpanther:PTHR15141,Pfam_domain:PF06881		K/R		C	low	2068/3046		getma.org/?cm=msa&ty=f&p=ELOA2_HUMAN&rb=544&re=647&var=K572R	deleterious(0.01)				YES	TCEB3B,missense_variant,p.Lys572Arg,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;							MODERATE	1715/2262	K572R	ELOA2_HUMAN			Transcript		possibly_damaging(0.754)	.	ENSP00000331302		CCDS11932.1			1	
TET3	0	LGGM	GRCh37	2	74275081	74275081	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	25	19	.	.	ENST00000409262.3:c.1632T>A	p.Pro544=	p.P544=	ENST00000409262	NM_144993.1	544	ccT/ccA	0	1	1	UPI0000DD79F5	0		ENST00000409262		ENSG00000187605	28313		44			HGNC	p.P544P		TET3		SNV							ENST00000409262	protein_coding			hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4		P		A		1632/10983				K9JJH7_HUMAN			YES	TET3,synonymous_variant,p.=,ENST00000409262,NM_144993.1,NM_001287491.1;TET3,synonymous_variant,p.=,ENST00000305799,;TET3,non_coding_transcript_exon_variant,,ENST00000475405,;							LOW	1632/4983		TET3_HUMAN			Transcript			.	ENSP00000386869		CCDS46339.1			1	
PHF10	0	LGGM	GRCh37	6	170114911	170114911	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	2	20	.	.	ENST00000339209.4:c.721A>T	p.Lys241Ter	p.K241*	ENST00000339209	NM_133325.2	241	Aaa/Taa	0	1	1	UPI0000EE1F6E	0	NA	ENST00000339209		ENSG00000130024	18250		22	0		HGNC	p.K239X		PHF10		SNV							ENST00000366780	protein_coding	getma.org/?cm=var&var=hg19,6,170114911,T,A&fts=all		hmmpanther:PTHR10615		K/*		A	NA	845/1719		NA		S5FMB0_HUMAN			YES	PHF10,stop_gained,p.Lys241Ter,ENST00000339209,NM_133325.2,NM_018288.3;PHF10,stop_gained,p.Lys239Ter,ENST00000366780,;PHF10,downstream_gene_variant,,ENST00000464779,;PHF10,intron_variant,,ENST00000480008,;							HIGH	721/1497	K241*	PHF10_HUMAN			Transcript			.	ENSP00000341805		CCDS5308.2			1	
SORCS3	0	LGGM	GRCh37	10	107022117	107022117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	30	20	.	.	ENST00000369701.3:c.3472C>A	p.Gln1158Lys	p.Q1158K	ENST00000369701	NM_014978.1	1158	Caa/Aaa	0	1	1	UPI0000135CE1	0	NA	ENST00000369701		ENSG00000156395	16699		50	1.2		HGNC	p.Q1158K		SORCS3		SNV							ENST00000369701	protein_coding	getma.org/?cm=var&var=hg19,10,107022117,C,A&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10		Q/K		A	low	3699/5757		getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=1105&re=1222&var=Q1158K	deleterious(0)	B7Z891_HUMAN			YES	SORCS3,missense_variant,p.Gln1158Lys,ENST00000369701,NM_014978.1;							MODERATE	3472/3669	Q1158K	SORC3_HUMAN			Transcript		benign(0.023)	.	ENSP00000358715		CCDS7558.1			1	
EMILIN2	0	LGGM	GRCh37	18	2892284	2892284	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	21	20	.	.	ENST00000254528.3:c.2159C>T	p.Ser720Leu	p.S720L	ENST00000254528	NM_032048.2	720	tCa/tTa	0	1	1	UPI000013CE3E	0	NA	ENST00000254528		ENSG00000132205	19881		41	1.965		HGNC	p.S720L		EMILIN2		SNV							ENST00000254528	protein_coding	getma.org/?cm=var&var=hg19,18,2892284,C,T&fts=all		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5		S/L		T	medium	2318/5910		getma.org/?cm=msa&ty=f&p=EMIL2_HUMAN&rb=718&re=906&var=S720L	deleterious(0)				YES	EMILIN2,missense_variant,p.Ser720Leu,ENST00000254528,NM_032048.2;							MODERATE	2159/3162	S720L	EMIL2_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000254528		CCDS11828.1			1	
TBX20	0	LGGM	GRCh37	7	35288409	35288409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	35	20	.	.	ENST00000408931.3:c.425C>T	p.Pro142Leu	p.P142L	ENST00000408931	NM_001077653.2	142	cCt/cTt	0	1	1	UPI00004B23D3	0	getma.org/pdb.php?prot=TBX20_HUMAN&from=101&to=289&var=P142L	ENST00000408931		ENSG00000164532	11598		55	1.78		HGNC	p.P142L		TBX20		SNV			1				ENST00000408931	protein_coding	getma.org/?cm=var&var=hg19,7,35288409,G,A&fts=all		Gene3D:1h6fA00,Pfam_domain:PF00907,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,SMART_domains:SM00425,Superfamily_domains:SSF49417		P/L		A	low	952/1871		getma.org/?cm=msa&ty=f&p=TBX20_HUMAN&rb=101&re=289&var=P142L	deleterious(0.03)	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN			YES	TBX20,missense_variant,p.Pro142Leu,ENST00000408931,NM_001077653.2,NM_001166220.1;TBX20,non_coding_transcript_exon_variant,,ENST00000492961,;							MODERATE	425/1344	P142L	TBX20_HUMAN			Transcript		benign(0.014)	.	ENSP00000386170		CCDS43568.1			1	
TBC1D8B	0	LGGM	GRCh37	X	106070457	106070457	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	78	20	.	.	ENST00000357242.5:c.1093G>A	p.Gly365Arg	p.G365R	ENST00000357242	NM_017752.2	365	Gga/Aga	0	1	1	UPI0000225CD5	0	NA	ENST00000357242		ENSG00000133138	24715		98	2.125		HGNC	p.G365R		TBC1D8B		SNV							ENST00000310452	protein_coding	getma.org/?cm=var&var=hg19,X,106070457,G,A&fts=all		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF260,Low_complexity_(Seg):seg		G/R		A	medium	1267/5717		getma.org/?cm=msa&ty=f&p=TBC8B_HUMAN&rb=354&re=489&var=G365R	deleterious(0.01)	D6RC82_HUMAN			YES	TBC1D8B,missense_variant,p.Gly365Arg,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Gly365Arg,ENST00000481617,;TBC1D8B,missense_variant,p.Gly365Arg,ENST00000276175,;TBC1D8B,missense_variant,p.Gly365Arg,ENST00000310452,NM_198881.1;MORC4,intron_variant,,ENST00000604604,;							MODERATE	1093/3363	G365R	TBC8B_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000349781		CCDS14522.1			1	
IMPACT	0	LGGM	GRCh37	18	22020577	22020577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	35	21	.	.	ENST00000284202.4:c.485G>A	p.Arg162Gln	p.R162Q	ENST00000284202	NM_018439.3	162	cGg/cAg	0	1	1	UPI000007006B	0	NA	ENST00000284202		ENSG00000154059	20387		56	-0.06		HGNC	p.R162Q		IMPACT		SNV							ENST00000578221	protein_coding	getma.org/?cm=var&var=hg19,18,22020577,G,A&fts=all		hmmpanther:PTHR16301		R/Q		A	neutral	626/3792		getma.org/?cm=msa&ty=f&p=IMPCT_HUMAN&rb=114&re=180&var=R162Q	tolerated(1)	J3KT25_HUMAN			YES	IMPACT,missense_variant,p.Arg162Gln,ENST00000284202,NM_018439.3;IMPACT,missense_variant,p.Arg144Gln,ENST00000585067,;IMPACT,missense_variant,p.Arg162Gln,ENST00000578221,;RP11-178F10.1,downstream_gene_variant,,ENST00000579049,;IMPACT,non_coding_transcript_exon_variant,,ENST00000580706,;							MODERATE	485/963	R162Q	IMPCT_HUMAN			Transcript		benign(0.001)	.	ENSP00000284202		CCDS11886.1			1	
RAPGEF4	0	LGGM	GRCh37	2	173848295	173848295	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	30	22	.	.	ENST00000397081.3:c.1076A>T	p.His359Leu	p.H359L	ENST00000397081	NM_007023.3	359	cAt/cTt	0	1	1	UPI000006D4C7	0	getma.org/pdb.php?prot=RPGF4_HUMAN&from=290&to=374&var=H359L	ENST00000397081		ENSG00000091428	16626		52	2.52		HGNC	p.H359L		RAPGEF4		SNV							ENST00000397081	protein_coding	getma.org/?cm=var&var=hg19,2,173848295,A,T&fts=all		PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206		H/L		T	medium	1219/4299		getma.org/?cm=msa&ty=f&p=RPGF4_HUMAN&rb=290&re=374&var=H359L	deleterious(0)	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN			YES	RAPGEF4,missense_variant,p.His358Leu,ENST00000264111,;RAPGEF4,missense_variant,p.His359Leu,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.His215Leu,ENST00000397087,NM_001100397.1,NM_001282899.1,NM_001282901.1;RAPGEF4,missense_variant,p.His359Leu,ENST00000409036,;RAPGEF4,missense_variant,p.His206Leu,ENST00000540783,;RAPGEF4,missense_variant,p.His206Leu,ENST00000539331,;RAPGEF4,missense_variant,p.His188Leu,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.His139Leu,ENST00000535187,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000459852,;							MODERATE	1076/3036	H359L	RPGF4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000380271		CCDS42775.1			1	
NTM	0	LGGM	GRCh37	11	131240737	131240737	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	32	23	.	.	ENST00000374791.3:c.36C>A	p.Ile12=	p.I12=	ENST00000374791	NM_001048209.1	12	atC/atA	0	1	1	UPI0000047814	0		ENST00000374791		ENSG00000182667	17941		55			HGNC	p.I12I		NTM		SNV							ENST00000374791	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix		I		A		365/3040								NTM,synonymous_variant,p.=,ENST00000374791,NM_001048209.1;NTM,synonymous_variant,p.=,ENST00000539799,;NTM,5_prime_UTR_variant,,ENST00000436745,;NTM,non_coding_transcript_exon_variant,,ENST00000477098,;							LOW	36/1035		NTRI_HUMAN			Transcript			.	ENSP00000363923		CCDS41733.1			1	
CCDC88A	0	LGGM	GRCh37	2	55561787	55561787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	33	25	.	.	ENST00000336838.6:c.2170C>A	p.Gln724Lys	p.Q724K	ENST00000336838		724	Cag/Aag	0	1		UPI000150AEEC	0	NA	ENST00000436346		ENSG00000115355	25523		58	1.355		HGNC	p.Q724K		CCDC88A		SNV							ENST00000263630	protein_coding	getma.org/?cm=var&var=hg19,2,55561787,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30,Low_complexity_(Seg):seg		Q/K		T	low	3012/9811		getma.org/?cm=msa&ty=f&p=GRDN_HUMAN&rb=591&re=1296&var=Q724K	deleterious(0.01)	C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,missense_variant,p.Gln724Lys,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,missense_variant,p.Gln724Lys,ENST00000263630,NM_018084.4;CCDC88A,missense_variant,p.Gln724Lys,ENST00000336838,;CCDC88A,missense_variant,p.Gln724Lys,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,;							MODERATE	2170/5616	Q724K	GRDN_HUMAN			Transcript		benign(0.066)	.	ENSP00000410608					1	
DCHS2	0	LGGM	GRCh37	4	155241606	155241606	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	44	30	.	.	ENST00000357232.4:c.3580G>A	p.Gly1194Arg	p.G1194R	ENST00000357232	NM_017639.3	1194	Gga/Aga	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=1169&to=1260&var=G1194R	ENST00000357232		ENSG00000197410	23111		74	3.505		HGNC	p.G1194R	rs781729354	DCHS2	6.06E-05	SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155241606,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/R		T	high	3580/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1169&re=1260&var=G1194R	deleterious(0)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Gly1194Arg,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;							MODERATE	3580/8751	G1194R	PCD23_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000349768	8.24E-06	CCDS3785.1			1	
P2RY14	0	LGGM	GRCh37	3	150931116	150931116	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	31	31	.	.	ENST00000309170.3:c.989C>A	p.Thr330Lys	p.T330K	ENST00000309170	NM_014879.3	330	aCa/aAa	0	1	1	UPI0000050418	0	NA	ENST00000309170		ENSG00000174944	16442		62	0		HGNC	p.T330K		P2RY14		SNV							ENST00000424796	protein_coding	getma.org/?cm=var&var=hg19,3,150931116,G,T&fts=all		hmmpanther:PTHR24233:SF3,hmmpanther:PTHR24233		T/K		T	neutral	1302/2513		getma.org/?cm=msa&ty=f&p=P2Y14_HUMAN&rb=296&re=338&var=T330K	deleterious(0.01)	C9JAB5_HUMAN,A5JUU3_HUMAN			YES	P2RY14,missense_variant,p.Thr330Lys,ENST00000309170,NM_014879.3,NM_001081455.1;P2RY14,missense_variant,p.Thr330Lys,ENST00000424796,;MED12L,intron_variant,,ENST00000474524,NM_053002.4;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;P2RY14,downstream_gene_variant,,ENST00000494668,;							MODERATE	989/1017	T330K	P2Y14_HUMAN			Transcript		benign(0.05)	.	ENSP00000308361		CCDS3156.1			1	
CFH	0	LGGM	GRCh37	1	196654198	196654198	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	67	31	.	.	ENST00000367429.4:c.795A>G	p.Lys265=	p.K265=	ENST00000367429	NM_000186.3	265	aaA/aaG	0	1	1	UPI000013C4D1	0		ENST00000367429		ENSG00000000971	4883		98			HGNC	p.K265K		CFH		SNV			1				ENST00000439155	protein_coding			Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,Superfamily_domains:SSF57535		K		G		1035/4127							YES	CFH,synonymous_variant,p.=,ENST00000367429,NM_000186.3;CFH,synonymous_variant,p.=,ENST00000439155,NM_001014975.2;CFH,synonymous_variant,p.=,ENST00000359637,;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;							LOW	795/3696		CFAH_HUMAN			Transcript			.	ENSP00000356399		CCDS1385.1			1	
MAML3	0	LGGM	GRCh37	4	140811911	140811911	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	42	33	.	.	ENST00000509479.2:c.679T>G	p.Leu227Val	p.L227V	ENST00000509479	NM_018717.4	227	Ttg/Gtg	0	1	1	UPI00001C1E1E	0	NA	ENST00000509479		ENSG00000196782	16272		75	1.61		HGNC	p.L227V		MAML3		SNV							ENST00000509479	protein_coding	getma.org/?cm=var&var=hg19,4,140811911,A,C&fts=all		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8		L/V		C	low	1536/6844		getma.org/?cm=msa&ty=f&p=MAML3_HUMAN&rb=128&re=327&var=L227V		Q9NPV6_HUMAN,E7EVW8_HUMAN			YES	MAML3,missense_variant,p.Leu227Val,ENST00000509479,NM_018717.4;MAML3,missense_variant,p.Leu71Val,ENST00000327122,;MAML3,intron_variant,,ENST00000502696,;MAML3,upstream_gene_variant,,ENST00000398940,;							MODERATE	679/3417	L227V	MAML3_HUMAN			Transcript		possibly_damaging(0.46)	.	ENSP00000421180		CCDS54805.1			1	
KIAA1549	0	LGGM	GRCh37	7	138566199	138566199	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	63	35	.	.	ENST00000422774.1:c.4164G>C	p.Ser1388=	p.S1388=	ENST00000422774		1388	tcG/tcC	0	1	1	UPI0001837EBD	0		ENST00000422774		ENSG00000122778	22219		98			HGNC	p.S1338S		KIAA1549		SNV			1				ENST00000242365	protein_coding			hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877		S		G		4213/6283							YES	KIAA1549,synonymous_variant,p.=,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,synonymous_variant,p.=,ENST00000242365,;KIAA1549,synonymous_variant,p.=,ENST00000422774,;RNU6-1272P,upstream_gene_variant,,ENST00000362776,;							LOW	4164/5853		K1549_HUMAN			Transcript			.	ENSP00000416040		CCDS56513.1			1	
SERPINI2	0	LGGM	GRCh37	3	167189521	167189521	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	48	35	.	.	ENST00000476257.1:c.102T>C	p.Tyr34=	p.Y34=	ENST00000476257	NM_006217.4	34	taT/taC	0	1		UPI0000135E26	0		ENST00000264677		ENSG00000114204	8945		83			HGNC	p.Y34Y		SERPINI2		SNV							ENST00000471111	protein_coding			hmmpanther:PTHR11461:SF51,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		Y		G		140/1430				C9J7N5_HUMAN				SERPINI2,synonymous_variant,p.=,ENST00000476257,NM_006217.4;SERPINI2,synonymous_variant,p.=,ENST00000461846,NM_001012303.2;SERPINI2,synonymous_variant,p.=,ENST00000264677,;SERPINI2,synonymous_variant,p.=,ENST00000471111,;SERPINI2,synonymous_variant,p.=,ENST00000466903,;SERPINI2,synonymous_variant,p.=,ENST00000467583,;SERPINI2,non_coding_transcript_exon_variant,,ENST00000465031,;							LOW	102/1218		SPI2_HUMAN			Transcript			.	ENSP00000264677		CCDS3200.1			1	
ZNF644	0	LGGM	GRCh37	1	91404647	91404647	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	33	36	.	.	ENST00000370440.1:c.2264A>T	p.Glu755Val	p.E755V	ENST00000370440		755	gAa/gTa	0	1		UPI000004A010	0	NA	ENST00000337393		ENSG00000122482	29222		69	0.345		HGNC	p.E755V		ZNF644		SNV			1				ENST00000370440	protein_coding	getma.org/?cm=var&var=hg19,1,91404647,T,A&fts=all		hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402		E/V		A	neutral	2505/5683		getma.org/?cm=msa&ty=f&p=ZN644_HUMAN&rb=671&re=870&var=E755V	tolerated(0.1)	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN				ZNF644,missense_variant,p.Glu755Val,ENST00000370440,;ZNF644,missense_variant,p.Glu755Val,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,;							MODERATE	2264/3984	E755V	ZN644_HUMAN			Transcript		benign(0.115)	.	ENSP00000337008		CCDS731.1			1	
GEMIN5	0	LGGM	GRCh37	5	154287348	154287348	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	61	39	.	.	ENST00000285873.7:c.2198G>C	p.Arg733Pro	p.R733P	ENST00000285873	NM_001252156.1	733	cGg/cCg	0	1	1	UPI000020D072	0	NA	ENST00000285873		ENSG00000082516	20043		100	2.125		HGNC	p.R733P		GEMIN5		SNV							ENST00000285873	protein_coding	getma.org/?cm=var&var=hg19,5,154287348,C,G&fts=all		hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89,Low_complexity_(Seg):seg		R/P		G	medium	2274/5397		getma.org/?cm=msa&ty=f&p=GEMI5_HUMAN&rb=729&re=1505&var=R733P	deleterious(0.01)	Q58EZ8_HUMAN			YES	GEMIN5,missense_variant,p.Arg733Pro,ENST00000285873,NM_001252156.1,NM_015465.4;							MODERATE	2198/4527	R733P	GEMI5_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000285873		CCDS4330.1			1	
WDR25	0	LGGM	GRCh37	14	100847810	100847810	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	41	39	.	.	ENST00000335290.6:c.549G>A	p.Gln183=	p.Q183=	ENST00000335290	NM_024515.4	183	caG/caA	0	1	1	UPI0000D4CFD0	0		ENST00000335290		ENSG00000176473	21064		80			HGNC	p.Q183Q		WDR25		SNV							ENST00000557710	protein_coding			hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF14		Q		A		775/2123				G3V2K8_HUMAN			YES	WDR25,synonymous_variant,p.=,ENST00000335290,NM_024515.4;WDR25,synonymous_variant,p.=,ENST00000554175,;WDR25,synonymous_variant,p.=,ENST00000402312,NM_001161476.1;WDR25,synonymous_variant,p.=,ENST00000554998,;WARS,upstream_gene_variant,,ENST00000355338,NM_173701.1;WDR25,upstream_gene_variant,,ENST00000542471,;WDR25,intron_variant,,ENST00000555775,;WDR25,intron_variant,,ENST00000554492,;WDR25,synonymous_variant,p.=,ENST00000557710,;							LOW	549/1635		WDR25_HUMAN			Transcript			.	ENSP00000334148		CCDS32157.1			1	
MAML3	0	LGGM	GRCh37	4	140811863	140811863	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	48	42	.	.	ENST00000509479.2:c.727C>A	p.Leu243Ile	p.L243I	ENST00000509479	NM_018717.4	243	Cta/Ata	0	1	1	UPI00001C1E1E	0	NA	ENST00000509479		ENSG00000196782	16272		90	0.95		HGNC	p.L243I		MAML3		SNV							ENST00000509479	protein_coding	getma.org/?cm=var&var=hg19,4,140811863,G,T&fts=all		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF8		L/I		T	low	1584/6844		getma.org/?cm=msa&ty=f&p=MAML3_HUMAN&rb=128&re=327&var=L243I		Q9NPV6_HUMAN,E7EVW8_HUMAN			YES	MAML3,missense_variant,p.Leu243Ile,ENST00000509479,NM_018717.4;MAML3,missense_variant,p.Leu87Ile,ENST00000327122,;MAML3,intron_variant,,ENST00000502696,;MAML3,upstream_gene_variant,,ENST00000398940,;							MODERATE	727/3417	L243I	MAML3_HUMAN			Transcript		benign(0.232)	.	ENSP00000421180		CCDS54805.1			1	
KRT28	0	LGGM	GRCh37	17	38955765	38955765	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	51	42	.	.	ENST00000306658.7:c.381T>A	p.Pro127=	p.P127=	ENST00000306658	NM_181535.3	127	ccT/ccA	0	1	1	UPI0000246D70	0		ENST00000306658		ENSG00000173908	30842		93			HGNC	p.P127P		KRT28		SNV							ENST00000306658	protein_coding			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF145		P		T		447/1685							YES	KRT28,synonymous_variant,p.=,ENST00000306658,NM_181535.3;RP11-605F20.1,upstream_gene_variant,,ENST00000582101,;							LOW	381/1395		K1C28_HUMAN			Transcript			.	ENSP00000305263		CCDS11376.1			1	
TTN	0	LGGM	GRCh37	2	179401030	179401030	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	44	43	.	.	ENST00000589042.1:c.100444T>A	p.Ser33482Thr	p.S33482T	ENST00000589042	NM_001267550.1	33482	Tca/Aca	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=31752&to=31846&var=S31841T	ENST00000591111		ENSG00000155657	12403		87	1.725		HGNC	p.S24542T		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179401030,A,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF49265		S/T		T	low	95746/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=31752&re=31846&var=S31841T		C9JQJ2_HUMAN				TTN,missense_variant,p.Ser33482Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ser31841Thr,ENST00000591111,;TTN,missense_variant,p.Ser30914Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ser24609Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ser24542Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ser24417Thr,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,,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,,ENST00000442329,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;							MODERATE	95521/103053	S31841T	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
DRD3	0	LGGM	GRCh37	3	113850051	113850051	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	47	43	.	.	ENST00000383673.2:c.920C>T	p.Ser307Leu	p.S307L	ENST00000383673	NM_000796.3	307	tCg/tTg	0	1		UPI000013E2C2	0	getma.org/pdb.php?prot=DRD3_HUMAN&from=46&to=383&var=S307L	ENST00000460779		ENSG00000151577	3024		90	0.955		HGNC	p.S307L	COSM1204546	DRD3		SNV			1			1	ENST00000460779	protein_coding	getma.org/?cm=var&var=hg19,3,113850051,G,A&fts=all		Pfam_domain:PF00001,Prints_domain:PR00568,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF38		S/L		A	low	1210/1557		getma.org/?cm=msa&ty=f&p=DRD3_HUMAN&rb=46&re=383&var=S307L	tolerated(0.28)					DRD3,missense_variant,p.Ser307Leu,ENST00000383673,NM_000796.3;DRD3,missense_variant,p.Ser307Leu,ENST00000460779,NM_001282563.1;DRD3,missense_variant,p.Ser307Leu,ENST00000467632,;DRD3,intron_variant,,ENST00000295881,NM_033663.3;					1		MODERATE	920/1203	S307L	DRD3_HUMAN			Transcript		benign(0.005)	.	ENSP00000419402		CCDS2978.1			1	
SYNE1	0	LGGM	GRCh37	6	152702164	152702164	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	9	44	.	.	ENST00000367255.5:c.8986G>A	p.Val2996Met	p.V2996M	ENST00000367255	NM_182961.3	2996	Gtg/Atg	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		53	2.135		HGNC	p.V3003M		SYNE1		SNV			1				ENST00000448038	protein_coding	getma.org/?cm=var&var=hg19,6,152702164,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		V/M		T	medium	9588/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=2884&re=3083&var=V2996M					YES	SYNE1,missense_variant,p.Val2996Met,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Val2996Met,ENST00000265368,;SYNE1,missense_variant,p.Val3003Met,ENST00000448038,;SYNE1,missense_variant,p.Val3003Met,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Val3035Met,ENST00000341594,;SYNE1,missense_variant,p.Val113Met,ENST00000454018,;SYNE1-AS1,intron_variant,,ENST00000412161,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;							MODERATE	8986/26394	V2996M	SYNE1_HUMAN			Transcript		possibly_damaging(0.563)	.	ENSP00000356224		CCDS5236.2			1	
C2orf69	0	LGGM	GRCh37	2	200790095	200790095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	79	45	.	.	ENST00000319974.5:c.644T>C	p.Ile215Thr	p.I215T	ENST00000319974	NM_153689.5	215	aTa/aCa	0	1	1	UPI0000073170	0	NA	ENST00000319974		ENSG00000178074	26799		124	0		HGNC	p.I215T		C2orf69		SNV							ENST00000319974	protein_coding	getma.org/?cm=var&var=hg19,2,200790095,T,C&fts=all		hmmpanther:PTHR31296:SF1,hmmpanther:PTHR31296,Pfam_domain:PF10561		I/T		C	neutral	827/3728		getma.org/?cm=msa&ty=f&p=CB069_HUMAN&rb=54&re=362&var=I215T	tolerated(0.49)				YES	C2orf69,missense_variant,p.Ile215Thr,ENST00000319974,NM_153689.5;TYW5,downstream_gene_variant,,ENST00000354611,NM_001039693.2;C2orf69,intron_variant,,ENST00000491721,;TYW5,downstream_gene_variant,,ENST00000483328,;							MODERATE	644/1158	I215T	CB069_HUMAN			Transcript		benign(0)	.	ENSP00000312770		CCDS46482.1			1	
ZNF841	0	LGGM	GRCh37	19	52570136	52570136	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	74	56	.	.	ENST00000389534.4:c.999A>G	p.Val333=	p.V333=	ENST00000389534	NM_001136499.1	333	gtA/gtG	0	1		UPI000035E7BB	0		ENST00000426391		ENSG00000197608	27611		130			HGNC	p.V217V		ZNF841		SNV							ENST00000359973	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		V		C		1203/3620								ZNF841,synonymous_variant,p.=,ENST00000389534,NM_001136499.1;ZNF841,synonymous_variant,p.=,ENST00000594295,;ZNF841,synonymous_variant,p.=,ENST00000426391,;ZNF841,synonymous_variant,p.=,ENST00000601738,;ZNF841,synonymous_variant,p.=,ENST00000359973,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;							LOW	651/2427		ZN841_HUMAN			Transcript			.	ENSP00000415453					1	
UNC13C	0	LGGM	GRCh37	15	54916051	54916051	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060018	H060018N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	96	62	.	.	ENST00000260323.11:c.6258A>C	p.Glu2086Asp	p.E2086D	ENST00000260323	NM_001080534.1	2086	gaA/gaC	0	1	1	UPI0000DD82AB	0	getma.org/pdb.php?prot=UN13C_HUMAN&from=2063&to=2153&var=E2086D	ENST00000260323		ENSG00000137766	23149		158	1.975		HGNC	p.E2084D		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54916051,A,C&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,SMART_domains:SM00239,Superfamily_domains:SSF49562		E/D		C	medium	6258/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=2063&re=2153&var=E2086D	deleterious_low_confidence(0.03)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Glu2086Asp,ENST00000545554,;UNC13C,missense_variant,p.Glu2084Asp,ENST00000537900,;UNC13C,missense_variant,p.Glu2086Asp,ENST00000260323,NM_001080534.1;UNC13C,missense_variant,p.Glu7Asp,ENST00000539562,;UNC13C,missense_variant,p.Glu7Asp,ENST00000560537,;							MODERATE	6258/6645	E2086D	UN13C_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000260323		CCDS45264.1			1	
TMED6	0	LGGM	GRCh37	16	69383468	69383468	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060018	H060018N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	95	74	.	.	ENST00000288025.3:c.300G>C	p.Gln100His	p.Q100H	ENST00000288025	NM_144676.3	100	caG/caC	0	1	1	UPI0000039E20	0	NA	ENST00000288025		ENSG00000157315	28331		169	2.125		HGNC	p.Q100H		TMED6		SNV							ENST00000288025	protein_coding	getma.org/?cm=var&var=hg19,16,69383468,C,G&fts=all		PROSITE_profiles:PS50866,hmmpanther:PTHR22811:SF45,hmmpanther:PTHR22811,Pfam_domain:PF01105		Q/H		G	medium	356/938		getma.org/?cm=msa&ty=f&p=TMED6_HUMAN&rb=43&re=228&var=Q100H	deleterious(0.01)				YES	TMED6,missense_variant,p.Gln100His,ENST00000288025,NM_144676.3;RP11-343C2.9,intron_variant,,ENST00000563634,;RP11-343C2.7,missense_variant,p.Gln93His,ENST00000564737,;RP11-343C2.7,missense_variant,p.Gln92His,ENST00000570293,;TMED6,upstream_gene_variant,,ENST00000568748,;							MODERATE	300/723	Q100H	TMED6_HUMAN			Transcript		possibly_damaging(0.784)	.	ENSP00000288025		CCDS10878.1			1	
TTN	0	LGGM	GRCh37	2	179595872	179595872	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060018	H060018N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	75	81	.	.	ENST00000589042.1:c.17520C>A	p.Ala5840=	p.A5840=	ENST00000589042	NM_001267550.1	5840	gcC/gcA	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		156			HGNC	p.A5840A		TTN		SNV			1				ENST00000589042	protein_coding			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		A		T		16794/104301				C9JQJ2_HUMAN				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,intron_variant,,ENST00000585451,;RP11-171I2.1,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;							LOW	16569/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
REPS2	0	LGGM	GRCh37	X	17165561	17165561	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060018	H060018N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060018N.bam, H060018T.bam	Illumina HiSeq	12	102	.	.	ENST00000357277.3:c.1940T>C	p.Leu647Ser	p.L647S	ENST00000357277	NM_001080975.1	647	tTg/tCg	0	1	1	UPI00001BBB18	0	NA	ENST00000357277		ENSG00000169891	9963		114	2.31		HGNC	p.L646S		REPS2		SNV							ENST00000303843	protein_coding	getma.org/?cm=var&var=hg19,X,17165561,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216		L/S		C	medium	2111/7945		getma.org/?cm=msa&ty=f&p=REPS2_HUMAN&rb=381&re=659&var=L647S	deleterious(0)				YES	REPS2,missense_variant,p.Leu647Ser,ENST00000357277,NM_001080975.1,NM_004726.2;REPS2,missense_variant,p.Leu646Ser,ENST00000303843,;REPS2,missense_variant,p.Leu446Ser,ENST00000380064,;REPS2,non_coding_transcript_exon_variant,,ENST00000469714,;REPS2,non_coding_transcript_exon_variant,,ENST00000470686,;							MODERATE	1940/1983	L647S	REPS2_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000349824		CCDS14180.2			1	
GAL3ST2	0	LGGM	GRCh37	2	242741407	242741407	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	7	2	.	.	ENST00000192314.6:c.331C>A	p.Arg111Ser	p.R111S	ENST00000192314	NM_022134.2	111	Cgc/Agc	0	1	1	UPI000049DF44	0	NA	ENST00000192314		ENSG00000154252	24869		9	0.805		HGNC	p.R111S		GAL3ST2		SNV							ENST00000192314	protein_coding	getma.org/?cm=var&var=hg19,2,242741407,C,A&fts=all		Pfam_domain:PF06990,hmmpanther:PTHR14647,hmmpanther:PTHR14647:SF58,Superfamily_domains:SSF52540		R/S		A	low	462/1370		getma.org/?cm=msa&ty=f&p=G3ST2_HUMAN&rb=1&re=384&var=R111S	tolerated(0.23)				YES	GAL3ST2,missense_variant,p.Arg111Ser,ENST00000192314,NM_022134.2;AC114730.5,upstream_gene_variant,,ENST00000437438,;							MODERATE	331/1197	R111S	G3ST2_HUMAN			Transcript		benign(0.036)	.	ENSP00000192314		CCDS33427.1			1	
MED12L	0	LGGM	GRCh37	3	150845620	150845620	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	21	2	.	.	ENST00000474524.1:c.405C>G	p.Ile135Met	p.I135M	ENST00000474524	NM_053002.4	135	atC/atG	0	1	1	UPI000020A46B	0	NA	ENST00000474524		ENSG00000144893	16050		23	1.78		HGNC	p.I135M		MED12L		SNV							ENST00000474524	protein_coding	getma.org/?cm=var&var=hg19,3,150845620,C,G&fts=all		Pfam_domain:PF09497,hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5		I/M		G	low	443/10744		getma.org/?cm=msa&ty=f&p=MD12L_HUMAN&rb=101&re=161&var=I135M	tolerated(0.08)				YES	MED12L,missense_variant,p.Ile135Met,ENST00000474524,NM_053002.4;MED12L,missense_variant,p.Ile135Met,ENST00000273432,;MED12L,missense_variant,p.Ile135Met,ENST00000309237,;MED12L,missense_variant,p.Ile135Met,ENST00000422248,;MED12L,downstream_gene_variant,,ENST00000469768,;							MODERATE	405/6438	I135M	MD12L_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000417235		CCDS33876.1			1	
C4orf46	0	LGGM	GRCh37	4	159592856	159592856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	7	2	.	.	ENST00000379205.4:c.98G>T	p.Gly33Val	p.G33V	ENST00000379205	NM_001008393.3	33	gGc/gTc	0	1	1	UPI000015D968	0	NA	ENST00000379205		ENSG00000205208	27320	0.000828	9	0		HGNC	p.G33V	rs753459998	C4orf46		SNV							ENST00000379205	protein_coding	getma.org/?cm=var&var=hg19,4,159592856,C,A&fts=all		hmmpanther:PTHR31641		G/V		A	neutral	343/3521		getma.org/?cm=msa&ty=f&p=CD046_HUMAN&rb=1&re=110&var=G33V	tolerated_low_confidence(1)				YES	C4orf46,missense_variant,p.Gly33Val,ENST00000379205,NM_001008393.3;C4orf46,missense_variant,p.Gly33Val,ENST00000508457,;ETFDH,upstream_gene_variant,,ENST00000511912,NM_004453.2,NM_001281738.1;ETFDH,upstream_gene_variant,,ENST00000307738,NM_001281737.1;ETFDH,upstream_gene_variant,,ENST00000507475,;ETFDH,upstream_gene_variant,,ENST00000512251,;C4orf46,intron_variant,,ENST00000508836,;ETFDH,upstream_gene_variant,,ENST00000510353,;ETFDH,upstream_gene_variant,,ENST00000506422,;ETFDH,upstream_gene_variant,,ENST00000436096,;							MODERATE	98/342	G33V	CD046_HUMAN			Transcript		benign(0)	common_variant	ENSP00000368503	4.95E-05	CCDS34088.1			1	
CELSR3	0	LGGM	GRCh37	3	48690580	48690580	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	18	2	.	.	ENST00000164024.4:c.5489C>A	p.Ser1830Ter	p.S1830*	ENST00000164024	NM_001407.2	1830	tCg/tAg	0	1	1	UPI00001AE5A6	0	NA	ENST00000164024		ENSG00000008300	3230		20	0		HGNC	p.S1830X		CELSR3		SNV							ENST00000544264	protein_coding	getma.org/?cm=var&var=hg19,3,48690580,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		S/*		T	NA	5770/11956		NA		B4DSQ9_HUMAN			YES	CELSR3,stop_gained,p.Ser1830Ter,ENST00000544264,;CELSR3,stop_gained,p.Ser1830Ter,ENST00000164024,NM_001407.2;							HIGH	5489/9939	S1830*	CELR3_HUMAN			Transcript			.	ENSP00000164024		CCDS2775.1			1	
ATP4A	0	LGGM	GRCh37	19	36051418	36051418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	19	2	.	.	ENST00000262623.3:c.634G>T	p.Ala212Ser	p.A212S	ENST00000262623	NM_000704.2	212	Gcc/Tcc	0	1	1	UPI000016A49B	0	getma.org/pdb.php?prot=ATP4A_HUMAN&from=146&to=377&var=A212S	ENST00000262623		ENSG00000105675	819		21	3.485		HGNC	p.A212S		ATP4A		SNV							ENST00000262623	protein_coding	getma.org/?cm=var&var=hg19,19,36051418,C,A&fts=all		Superfamily_domains:0049471,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251		A/S		A	medium	663/3709		getma.org/?cm=msa&ty=f&p=ATP4A_HUMAN&rb=146&re=377&var=A212S	deleterious(0)				YES	ATP4A,missense_variant,p.Ala212Ser,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;							MODERATE	634/3108	A212S	ATP4A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262623		CCDS12467.1			1	
PROX1	0	LGGM	GRCh37	1	214178601	214178601	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	23	3	.	.	ENST00000366958.4:c.1819T>G	p.Phe607Val	p.F607V	ENST00000366958	NM_001270616.1	607	Ttc/Gtc	0	1		UPI0000071D14	0	getma.org/pdb.php?prot=PROX1_HUMAN&from=308&to=735&var=F607V	ENST00000261454		ENSG00000117707	9459		26	2.805		HGNC	p.F607V		PROX1		SNV							ENST00000366958	protein_coding	getma.org/?cm=var&var=hg19,1,214178601,T,G&fts=all		hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198,Gene3D:1mijA00,Pfam_domain:PF05044,Superfamily_domains:SSF46689		F/V		G	medium	1819/2797		getma.org/?cm=msa&ty=f&p=PROX1_HUMAN&rb=308&re=735&var=F607V	deleterious(0)	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN				PROX1,missense_variant,p.Phe607Val,ENST00000366958,NM_001270616.1;PROX1,missense_variant,p.Phe607Val,ENST00000498508,;PROX1,missense_variant,p.Phe607Val,ENST00000435016,NM_002763.4;PROX1,missense_variant,p.Phe607Val,ENST00000261454,;							MODERATE	1819/2214	F607V	PROX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261454		CCDS31021.1			1	
MPP5	0	LGGM	GRCh37	14	67746074	67746074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	37	3	.	.	ENST00000261681.4:c.187C>A	p.Gln63Lys	p.Q63K	ENST00000261681	NM_022474.3	63	Cag/Aag	0	1	1	UPI0000046FB9	0	NA	ENST00000261681		ENSG00000072415	18669		40	1.7		HGNC	p.Q63K		MPP5		SNV							ENST00000556345	protein_coding	getma.org/?cm=var&var=hg19,14,67746074,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23122:SF32,hmmpanther:PTHR23122		Q/K		A	low	848/5552		getma.org/?cm=msa&ty=f&p=MPP5_HUMAN&rb=1&re=122&var=Q63K	deleterious(0.01)	G3V2H1_HUMAN			YES	MPP5,missense_variant,p.Gln63Lys,ENST00000261681,NM_022474.3;MPP5,missense_variant,p.Gln29Lys,ENST00000555925,NM_001256550.1;MPP5,missense_variant,p.Gln63Lys,ENST00000556345,;MPP5,missense_variant,p.Gln29Lys,ENST00000557783,;MPP5,downstream_gene_variant,,ENST00000557237,;							MODERATE	187/2028	Q63K	MPP5_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000261681		CCDS9779.1			1	
NSUN2	0	LGGM	GRCh37	5	6623377	6623377	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	43	3	.	.	ENST00000264670.6:c.487G>T	p.Ala163Ser	p.A163S	ENST00000264670	NM_017755.5	163	Gct/Tct	0	1	1	UPI000020BF2B	0	getma.org/pdb.php?prot=NSUN2_HUMAN&from=120&to=276&var=A163S	ENST00000264670		ENSG00000037474	25994		46	2.53		HGNC	p.A163S		NSUN2		SNV			1				ENST00000504374	protein_coding	getma.org/?cm=var&var=hg19,5,6623377,C,A&fts=all		PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF1,Gene3D:3.40.50.150,Superfamily_domains:SSF53335,Prints_domain:PR02008		A/S		A	medium	799/3303		getma.org/?cm=msa&ty=f&p=NSUN2_HUMAN&rb=120&re=276&var=A163S	deleterious(0)	G3V1R4_HUMAN			YES	NSUN2,missense_variant,p.Ala163Ser,ENST00000264670,NM_017755.5;NSUN2,missense_variant,p.Ala128Ser,ENST00000506139,NM_001193455.1;NSUN2,5_prime_UTR_variant,,ENST00000539938,;NSUN2,non_coding_transcript_exon_variant,,ENST00000505264,;NSUN2,missense_variant,p.Ala163Ser,ENST00000504374,;NSUN2,upstream_gene_variant,,ENST00000505892,;							MODERATE	487/2304	A163S	NSUN2_HUMAN			Transcript		possibly_damaging(0.8)	.	ENSP00000264670		CCDS3869.1			1	
SLIT1	0	LGGM	GRCh37	10	98820451	98820451	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	9	3	.	.	ENST00000266058.4:c.887G>T	p.Arg296Leu	p.R296L	ENST00000266058	NM_003061.2	296	cGt/cTt	0	1	1	UPI00001F9491	0	NA	ENST00000266058		ENSG00000187122	11085		12	2.775		HGNC	p.R279L		SLIT1		SNV							ENST00000314867	protein_coding	getma.org/?cm=var&var=hg19,10,98820451,C,A&fts=all		hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,Pfam_domain:PF01462,Gene3D:3.80.10.10,SMART_domains:SM00013		R/L		A	medium	1133/7925		getma.org/?cm=msa&ty=f&p=SLIT1_HUMAN&rb=261&re=328&var=R296L	deleterious(0)				YES	SLIT1,missense_variant,p.Arg296Leu,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Arg296Leu,ENST00000371070,;SLIT1,missense_variant,p.Arg279Leu,ENST00000314867,;SLIT1,missense_variant,p.Arg296Leu,ENST00000371041,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;SLIT1,downstream_gene_variant,,ENST00000497714,;							MODERATE	887/4605	R296L	SLIT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266058		CCDS7453.1			1	
RNF112	0	LGGM	GRCh37	17	19318885	19318885	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	6	3	.	.	ENST00000461366.1:c.1405G>A	p.Glu469Lys	p.E469K	ENST00000461366	NM_007148.4	469	Gag/Aag	0	1	1	UPI00001B0607	0	NA	ENST00000461366		ENSG00000128482	12968		9	0.46		HGNC	p.E469K	rs780235543	RNF112		SNV				0.000123			ENST00000461366	protein_coding	getma.org/?cm=var&var=hg19,17,19318885,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751		E/K		A	neutral	1620/3212		getma.org/?cm=msa&ty=f&p=RN112_HUMAN&rb=402&re=601&var=E469K	tolerated(0.23)	J3QRB8_HUMAN			YES	RNF112,missense_variant,p.Glu469Lys,ENST00000461366,NM_007148.4;RNF112,downstream_gene_variant,,ENST00000575165,;AC004448.2,upstream_gene_variant,,ENST00000437646,;snoMe28S-Am2634,upstream_gene_variant,,ENST00000583500,;CTB-187M2.2,upstream_gene_variant,,ENST00000579897,;RNF112,downstream_gene_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574782,;RNF112,downstream_gene_variant,,ENST00000574149,;							MODERATE	1405/1896	E469K	RN112_HUMAN			Transcript		benign(0.168)	.	ENSP00000454919	8.25E-06	CCDS58529.1			1	
CELSR3	0	LGGM	GRCh37	3	48701459	48701459	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	10	3	.	.	ENST00000421275.1:n.38+213C>T		*13*	ENST00000421275				0	1	1	UPI00001AE5A6	0		ENST00000164024		ENSG00000008300	3230		13		1111	HGNC	p.A692T	rs767677078	CELSR3		SNV							ENST00000341520	protein_coding							T		-/11956				B4DSQ9_HUMAN			YES	NCKIPSD,missense_variant,p.Ala692Thr,ENST00000341520,;CELSR3,upstream_gene_variant,,ENST00000544264,;CELSR3,upstream_gene_variant,,ENST00000164024,NM_001407.2;RP11-148G20.1,intron_variant,,ENST00000421275,;							MODIFIER	-/9939		CELR3_HUMAN			Transcript			.	ENSP00000164024	8.78E-06	CCDS2775.1			1	
UBR3	0	LGGM	GRCh37	2	170850900	170850900	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	44	3	.	.	ENST00000418381.1:c.3852C>A	p.Tyr1284Ter	p.Y1284*	ENST00000418381	NM_172070.3	1284	taC/taA	0	1		UPI00015FA088	0	NA	ENST00000272793		ENSG00000144357	30467		47	0		HGNC	p.Y1284X		UBR3		SNV							ENST00000418381	protein_coding	getma.org/?cm=var&var=hg19,2,170850900,C,A&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25		Y/*		A	NA	3902/8005		NA		Q68DC1_HUMAN				UBR3,stop_gained,p.Tyr1284Ter,ENST00000272793,;UBR3,stop_gained,p.Tyr1284Ter,ENST00000418381,NM_172070.3;UBR3,stop_gained,p.Tyr342Ter,ENST00000392632,;UBR3,stop_gained,p.Tyr105Ter,ENST00000392631,;UBR3,3_prime_UTR_variant,,ENST00000430321,;							HIGH	3852/5667	Y1284*	UBR3_HUMAN			Transcript			.	ENSP00000272793					1	
ZFAND4	0	LGGM	GRCh37	10	46143839	46143839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	45	3	.	.	ENST00000344646.5:c.472G>T	p.Asp158Tyr	p.D158Y	ENST00000344646	NM_174890.2	158	Gat/Tat	0	1	1	UPI0000161363	0	NA	ENST00000344646		ENSG00000172671	23504		48	1.79		HGNC	p.D158Y		ZFAND4		SNV							ENST00000344646	protein_coding	getma.org/?cm=var&var=hg19,10,46143839,C,A&fts=all		hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666		D/Y		A	low	688/3241		getma.org/?cm=msa&ty=f&p=ZFAN4_HUMAN&rb=1&re=200&var=D158Y	deleterious(0)	Q5VVY6_HUMAN,J3KPC0_HUMAN			YES	ZFAND4,missense_variant,p.Asp84Tyr,ENST00000374366,NM_001282905.1,NM_001282906.1;ZFAND4,missense_variant,p.Asp158Tyr,ENST00000344646,NM_174890.2,NM_001128324.2;ZFAND4,missense_variant,p.Asp158Tyr,ENST00000374371,;ZFAND4,downstream_gene_variant,,ENST00000335258,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;ZFAND4,downstream_gene_variant,,ENST00000497028,;ZFAND4,downstream_gene_variant,,ENST00000495747,;ZFAND4,missense_variant,p.Asp158Tyr,ENST00000465407,;							MODERATE	472/2184	D158Y	ZFAN4_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000339484		CCDS7214.1			1	
PMS2	0	LGGM	GRCh37	7	6018293	6018293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	28	3	.	.	ENST00000265849.7:c.2209G>T	p.Ala737Ser	p.A737S	ENST00000265849	NM_000535.5	737	Gct/Tct	0	1	1	UPI000013D696	0	getma.org/pdb.php?prot=PMS2_HUMAN&from=675&to=822&var=A737S	ENST00000265849		ENSG00000122512	9122		31	-0.43		HGNC	p.A690S		PMS2		SNV			1				ENST00000382322	protein_coding	getma.org/?cm=var&var=hg19,7,6018293,C,A&fts=all		Superfamily_domains:0050888,SMART_domains:SM00853,Pfam_domain:PF08676,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9		A/S		A	neutral	2315/2855		getma.org/?cm=msa&ty=f&p=PMS2_HUMAN&rb=675&re=822&var=A737S	tolerated(0.85)				YES	PMS2,missense_variant,p.Ala737Ser,ENST00000265849,NM_000535.5;PMS2,missense_variant,p.Ala631Ser,ENST00000441476,;PMS2,missense_variant,p.Ala336Ser,ENST00000382321,;PMS2,intron_variant,,ENST00000406569,;PMS2,downstream_gene_variant,,ENST00000469652,;							MODERATE	2209/2589	A737S	PMS2_HUMAN			Transcript		benign(0.013)	.	ENSP00000265849		CCDS5343.1			1	
NRXN3	0	LGGM	GRCh37	14	80164282	80164282	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	37	4	.	.	ENST00000554719.1:c.2805+2T>C		p.X935_splice	ENST00000554719	NM_004796.5			0	1		UPI000013DC5A	0		ENST00000557594		ENSG00000021645	8010		41			HGNC	-		NRXN3		SNV							ENST00000554738	protein_coding							C		-/3381				B3KTX7_HUMAN				NRXN3,splice_donor_variant,,ENST00000281127,NM_138970.4,NM_001272020.1;NRXN3,splice_donor_variant,,ENST00000428277,NM_001105250.2;NRXN3,splice_donor_variant,,ENST00000554719,NM_004796.5;NRXN3,splice_donor_variant,,ENST00000335750,;NRXN3,splice_donor_variant,,ENST00000557594,;RP11-242P2.1,intron_variant,,ENST00000553322,;NRXN3,intron_variant,,ENST00000556003,;NRXN3,splice_donor_variant,,ENST00000554738,;NRXN3,splice_donor_variant,,ENST00000555387,;							HIGH	909/1914		NRX3B_HUMAN			Transcript			.	ENSP00000451672		CCDS61515.1			1	
MIA3	0	LGGM	GRCh37	1	222817920	222817920	+	intron_variant	Intron	DEL	C	C	-	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	4	4	.	.	ENST00000344922.5:c.3478-976del		*1160*	ENST00000344922	NM_198551.2			0	1	1	UPI00001D75B3	0		ENST00000344922		ENSG00000154305	24008		8			HGNC	p.L35fs		MIA3		deletion							ENST00000340535	protein_coding							-		-/8142							YES	MIA3,frameshift_variant,p.Leu35CysfsTer4,ENST00000340535,;MIA3,intron_variant,,ENST00000344922,NM_198551.2;MIA3,intron_variant,,ENST00000344441,;MIA3,intron_variant,,ENST00000354906,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000495210,;MIA3,intron_variant,,ENST00000470521,;MIA3,upstream_gene_variant,,ENST00000467190,;RP11-378J18.6,upstream_gene_variant,,ENST00000413568,;							MODIFIER	-/5724		MIA3_HUMAN			Transcript			.	ENSP00000340900		CCDS41470.1			1	
ST8SIA5	0	LGGM	GRCh37	18	44260193	44260193	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	17	4	.	.	ENST00000315087.7:c.943G>T	p.Glu315Ter	p.E315*	ENST00000315087	NM_013305.4	315	Gag/Tag	0	1	1	UPI000013C72F	0	NA	ENST00000315087		ENSG00000101638	17827		21	0		HGNC	p.E351X		ST8SIA5		SNV							ENST00000538168	protein_coding	getma.org/?cm=var&var=hg19,18,44260193,C,A&fts=all		hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF4,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557		E/*		A	NA	1604/2716		NA		B3KSU2_HUMAN			YES	ST8SIA5,stop_gained,p.Glu315Ter,ENST00000315087,NM_013305.4;ST8SIA5,stop_gained,p.Glu351Ter,ENST00000538168,;ST8SIA5,stop_gained,p.Glu284Ter,ENST00000536490,;ST8SIA5,non_coding_transcript_exon_variant,,ENST00000590497,;ST8SIA5,downstream_gene_variant,,ENST00000587428,;							HIGH	943/1131	E315*	SIA8E_HUMAN			Transcript			.	ENSP00000321343		CCDS11930.1			1	
LRFN1	0	LGGM	GRCh37	19	39798830	39798830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	11	4	.	.	ENST00000248668.4:c.1759A>G	p.Asn587Asp	p.N587D	ENST00000248668	NM_020862.1	587	Aac/Gac	0	1	1	UPI00001A5C55	0	NA	ENST00000248668		ENSG00000128011	29290		15	1.61		HGNC	p.N587D		LRFN1		SNV							ENST00000248668	protein_coding	getma.org/?cm=var&var=hg19,19,39798830,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373		N/D		C	low	1759/3381		getma.org/?cm=msa&ty=f&p=LRFN1_HUMAN&rb=505&re=699&var=N587D	deleterious(0.01)				YES	LRFN1,missense_variant,p.Asn587Asp,ENST00000248668,NM_020862.1;							MODERATE	1759/2316	N587D	LRFN1_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000248668		CCDS46071.1			1	
NLRC5	0	LGGM	GRCh37	16	57093415	57093415	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	4	4	.	.	ENST00000262510.6:c.3957C>T	p.Ser1319=	p.S1319=	ENST00000262510	NM_032206.4	1319	tcC/tcT	0	1	1	UPI00001AEE94	0		ENST00000262510		ENSG00000140853	29933		8			HGNC	p.S795S		NLRC5		SNV							ENST00000538110	protein_coding			hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		S		T		4182/6822				F5H274_HUMAN,F5GYP0_HUMAN			YES	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.=,ENST00000538805,;NLRC5,synonymous_variant,p.=,ENST00000538110,;NLRC5,synonymous_variant,p.=,ENST00000543030,;NLRC5,synonymous_variant,p.=,ENST00000399221,;RP11-322D14.2,upstream_gene_variant,,ENST00000562970,;NLRC5,synonymous_variant,p.=,ENST00000538453,;NLRC5,synonymous_variant,p.=,ENST00000540182,;NLRC5,synonymous_variant,p.=,ENST00000537056,;NLRC5,3_prime_UTR_variant,,ENST00000545081,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538930,;NLRC5,non_coding_transcript_exon_variant,,ENST00000538778,;NLRC5,non_coding_transcript_exon_variant,,ENST00000535284,;NLRC5,non_coding_transcript_exon_variant,,ENST00000543402,;NLRC5,downstream_gene_variant,,ENST00000534931,;							LOW	3957/5601		NLRC5_HUMAN			Transcript			.	ENSP00000262510		CCDS10773.1			1	
VPRBP	0	LGGM	GRCh37	3	51457750	51457750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	86	4	.	.	ENST00000423656.1:c.1387G>T	p.Ala463Ser	p.A463S	ENST00000423656		463	Gct/Tct	0	1	1	UPI000020AC56	0	NA	ENST00000423656		ENSG00000145041	30911		90	1.39		HGNC	p.A463S		VPRBP		SNV							ENST00000423656	protein_coding	getma.org/?cm=var&var=hg19,3,51457750,C,A&fts=all		hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4		A/S		A	low	1387/4529		getma.org/?cm=msa&ty=f&p=VPRBP_HUMAN&rb=801&re=1000&var=A892S	tolerated(0.42)	H0Y4P3_HUMAN			YES	VPRBP,missense_variant,p.Ala463Ser,ENST00000423656,;VPRBP,missense_variant,p.Ala443Ser,ENST00000335891,;							MODERATE	1387/3237	A892S				Transcript		benign(0.004)	.	ENSP00000393183					1	
OR2A4	0	LGGM	GRCh37	6	132021888	132021888	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	36	4	.	.	ENST00000315453.2:c.654G>A	p.Met218Ile	p.M218I	ENST00000315453	NM_030908.1	218	atG/atA	0	1	1	UPI000003F21F	0	NA	ENST00000315453		ENSG00000180658	14729		40	-0.49		HGNC	p.M218I		OR2A4		SNV							ENST00000315453	protein_coding	getma.org/?cm=var&var=hg19,6,132021888,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		M/I		T	neutral	748/1116		getma.org/?cm=msa&ty=f&p=OR2A4_HUMAN&rb=138&re=282&var=M218I	tolerated(1)				YES	OR2A4,missense_variant,p.Met218Ile,ENST00000315453,NM_030908.1;ENPP3,intron_variant,,ENST00000414305,;ENPP3,intron_variant,,ENST00000357639,NM_005021.3;ENPP3,intron_variant,,ENST00000358229,;							MODERATE	654/933	M218I	OR2A4_HUMAN			Transcript		benign(0.007)	.	ENSP00000319546		CCDS5149.1			1	
SHANK1	0	LGGM	GRCh37	19	51190034	51190034	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	12	5	.	.	ENST00000293441.1:c.2425G>T	p.Glu809Ter	p.E809*	ENST00000293441	NM_016148.2	809	Gag/Tag	0	1	1	UPI000013E109	0	NA	ENST00000293441		ENSG00000161681	15474		17	0		HGNC	p.E800X		SHANK1		SNV			1				ENST00000359082	protein_coding	getma.org/?cm=var&var=hg19,19,51190034,C,A&fts=all		hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135		E/*		A	NA	2444/6643		NA					YES	SHANK1,stop_gained,p.Glu809Ter,ENST00000293441,NM_016148.2;SHANK1,stop_gained,p.Glu817Ter,ENST00000391814,;SHANK1,stop_gained,p.Glu800Ter,ENST00000359082,;SHANK1,stop_gained,p.Glu196Ter,ENST00000391813,;							HIGH	2425/6486	E809*	SHAN1_HUMAN			Transcript			.	ENSP00000293441		CCDS12799.1			1	
NLRP8	0	LGGM	GRCh37	19	56499255	56499255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	37	5	.	.	ENST00000291971.3:c.3123C>A	p.Asp1041Glu	p.D1041E	ENST00000291971	NM_176811.2	1041	gaC/gaA	0	1	1	UPI00001BB3C9	0	NA	ENST00000291971		ENSG00000179709	22940		42	0		HGNC	p.D1041E		NLRP8		SNV							ENST00000291971	protein_coding	getma.org/?cm=var&var=hg19,19,56499255,C,A&fts=all				D/E		A	neutral	3194/3934		getma.org/?cm=msa&ty=f&p=NALP8_HUMAN&rb=1007&re=1048&var=D1041E	deleterious_low_confidence(0)				YES	NLRP8,missense_variant,p.Asp1041Glu,ENST00000291971,NM_176811.2;NLRP8,missense_variant,p.Asp1022Glu,ENST00000590542,;							MODERATE	3123/3147	D1041E	NALP8_HUMAN			Transcript		benign(0.417)	.	ENSP00000291971		CCDS12937.1			1	
KCNH3	0	LGGM	GRCh37	12	49950256	49950256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	17	6	.	.	ENST00000257981.6:c.2572C>A	p.Pro858Thr	p.P858T	ENST00000257981	NM_012284.1	858	Cca/Aca	0	1	1	UPI000012DCA6	0	NA	ENST00000257981		ENSG00000135519	6252		23	0		HGNC	p.P858T		KCNH3		SNV							ENST00000257981	protein_coding	getma.org/?cm=var&var=hg19,12,49950256,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF481		P/T		A	neutral	2832/3867		getma.org/?cm=msa&ty=f&p=KCNH3_HUMAN&rb=823&re=1081&var=P858T	tolerated(0.26)	Q8N500_HUMAN			YES	KCNH3,missense_variant,p.Pro858Thr,ENST00000257981,NM_012284.1;MCRS1,downstream_gene_variant,,ENST00000550165,;MCRS1,downstream_gene_variant,,ENST00000343810,NM_006337.4;MCRS1,downstream_gene_variant,,ENST00000546244,NM_001278341.1;MCRS1,downstream_gene_variant,,ENST00000357123,NM_001012300.1;MCRS1,downstream_gene_variant,,ENST00000553173,;MCRS1,downstream_gene_variant,,ENST00000551598,;MCRS1,downstream_gene_variant,,ENST00000547182,;KCNH3,non_coding_transcript_exon_variant,,ENST00000548675,;MCRS1,downstream_gene_variant,,ENST00000551625,;MCRS1,downstream_gene_variant,,ENST00000548602,;MCRS1,downstream_gene_variant,,ENST00000549000,;MCRS1,downstream_gene_variant,,ENST00000552596,;MCRS1,downstream_gene_variant,,ENST00000548646,;							MODERATE	2572/3252	P858T	KCNH3_HUMAN			Transcript		benign(0.01)	.	ENSP00000257981		CCDS8786.1			1	
SSH2	0	LGGM	GRCh37	17	27999103	27999103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	32	6	.	.	ENST00000269033.3:c.578C>T	p.Ala193Val	p.A193V	ENST00000269033	NM_033389.2	193	gCg/gTg	0	1	1	UPI00001D6272	0	NA	ENST00000269033		ENSG00000141298	30580		38	0		HGNC	p.A220V	rs759004141	SSH2		SNV							ENST00000540801	protein_coding	getma.org/?cm=var&var=hg19,17,27999103,G,A&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF106		A/V		A	neutral	730/9327	6.00E-05	getma.org/?cm=msa&ty=f&p=SSH2_HUMAN&rb=1&re=200&var=A193V	tolerated(0.3)	J3KSQ9_HUMAN			YES	SSH2,missense_variant,p.Ala193Val,ENST00000269033,NM_033389.2,NM_001282129.1;SSH2,missense_variant,p.Ala220Val,ENST00000540801,;RP11-68I3.2,intron_variant,,ENST00000581474,;SSH2,downstream_gene_variant,,ENST00000324677,;SSH2,non_coding_transcript_exon_variant,,ENST00000394848,;SSH2,downstream_gene_variant,,ENST00000577483,;SSH2,downstream_gene_variant,,ENST00000579040,NM_001282130.1;							MODERATE	578/4272	A193V	SSH2_HUMAN			Transcript		benign(0)	.	ENSP00000269033	3.29E-05	CCDS11253.1			1	
AHSA1	0	LGGM	GRCh37	14	77935525	77935525	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	34	7	.	.	ENST00000216479.3:c.950A>T	p.Gln317Leu	p.Q317L	ENST00000216479	NM_012111.2	317	cAg/cTg	0	1	1	UPI0000127BE0	0	getma.org/pdb.php?prot=AHSA1_HUMAN&from=216&to=332&var=Q317L	ENST00000216479		ENSG00000100591	1189		41	0.74		HGNC	p.Q317L		AHSA1		SNV							ENST00000216479	protein_coding	getma.org/?cm=var&var=hg19,14,77935525,A,T&fts=all		Superfamily_domains:SSF55961,Pfam_domain:PF08327,Gene3D:3.30.530.20,hmmpanther:PTHR13009:SF7,hmmpanther:PTHR13009		Q/L		T	neutral	1110/1402		getma.org/?cm=msa&ty=f&p=AHSA1_HUMAN&rb=216&re=332&var=Q317L	tolerated(0.73)	G3V438_HUMAN			YES	AHSA1,missense_variant,p.Gln317Leu,ENST00000216479,NM_012111.2;AHSA1,missense_variant,p.Gln182Leu,ENST00000555133,;AHSA1,missense_variant,p.Gln112Leu,ENST00000555729,;AHSA1,missense_variant,p.Gln99Leu,ENST00000557476,;AHSA1,downstream_gene_variant,,ENST00000535854,;AHSA1,downstream_gene_variant,,ENST00000553374,;SNORA46,downstream_gene_variant,,ENST00000391069,;AHSA1,non_coding_transcript_exon_variant,,ENST00000555457,;AHSA1,3_prime_UTR_variant,,ENST00000556369,;AHSA1,non_coding_transcript_exon_variant,,ENST00000555473,;AHSA1,downstream_gene_variant,,ENST00000556866,;							MODERATE	950/1017	Q317L	AHSA1_HUMAN			Transcript		benign(0.343)	.	ENSP00000216479		CCDS9863.1			1	
SELPLG	0	LGGM	GRCh37	12	109017730	109017730	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	18	7	.	.	ENST00000228463.6:c.402T>C	p.Ala134=	p.A134=	ENST00000228463	NM_001206609.1	134	gcT/gcC	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722		25			HGNC	p.A118A		SELPLG		SNV							ENST00000388962	protein_coding			hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0		A		G		579/2256				B4DT54_HUMAN				SELPLG,synonymous_variant,p.=,ENST00000388962,NM_003006.4;SELPLG,synonymous_variant,p.=,ENST00000550948,;SELPLG,synonymous_variant,p.=,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;							LOW	354/1239		SELPL_HUMAN			Transcript			.	ENSP00000447752		CCDS31895.2			1	
KIAA0319	0	LGGM	GRCh37	6	24578424	24578424	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	52	7	.	.	ENST00000378214.3:c.1419A>G	p.Ile473Met	p.I473M	ENST00000378214	NM_014809.3	473	atA/atG	0	1	1	UPI000020D61A	0	NA	ENST00000378214		ENSG00000137261	21580		59	0.925		HGNC	p.I473M		KIAA0319		SNV			1				ENST00000543707	protein_coding	getma.org/?cm=var&var=hg19,6,24578424,T,C&fts=all		Superfamily_domains:SSF49299,SMART_domains:SM00060,SMART_domains:SM00089,Gene3D:2.60.40.670,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194		I/M		C	low	1944/6802		getma.org/?cm=msa&ty=f&p=K0319_HUMAN&rb=462&re=683&var=I473M	deleterious(0.01)				YES	KIAA0319,missense_variant,p.Ile464Met,ENST00000535378,NM_001168374.1;KIAA0319,missense_variant,p.Ile473Met,ENST00000378214,NM_014809.3,NM_001168375.1;KIAA0319,missense_variant,p.Ile473Met,ENST00000537886,NM_001168377.1;KIAA0319,missense_variant,p.Ile428Met,ENST00000430948,NM_001168376.1;KIAA0319,missense_variant,p.Ile473Met,ENST00000543707,;							MODERATE	1419/3219	I473M	K0319_HUMAN			Transcript		benign(0.257)	.	ENSP00000367459		CCDS34348.1			1	
ABCA12	0	LGGM	GRCh37	2	215928932	215928932	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	29	8	.	.	ENST00000272895.7:c.174A>G	p.Ala58=	p.A58=	ENST00000272895	NM_173076.2	58	gcA/gcG	0	1	1	UPI000019AB7A	0		ENST00000272895		ENSG00000144452	14637		37			HGNC	p.A58A		ABCA12		SNV			1				ENST00000272895	protein_coding			hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229		A		C		394/9100				A0SYP7_HUMAN			YES	ABCA12,synonymous_variant,p.=,ENST00000272895,NM_173076.2;							LOW	174/7788		ABCAC_HUMAN			Transcript			.	ENSP00000272895		CCDS33372.1			1	
ASPHD1	0	LGGM	GRCh37	16	29913017	29913029	+	frameshift_variant	Frame_Shift_Del	DEL	CCCCACCTCTGGC	CCCCACCTCTGGC	-	novel	by Submitter	H060030	H060030N.bam	CCCCACCTCTGGC	CCCCACCTCTGGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	22	8	.	.	ENST00000308748.5:c.729_741del	p.Pro244GlyfsTer28	p.P244Gfs*28	ENST00000308748	NM_181718.3	242	tCCCCACCTCTGGCc/tc	0	1	1	UPI0000197DF0	0		ENST00000308748		ENSG00000174939	27380		30			HGNC	p.242_246del		ASPHD1		deletion							ENST00000308748	protein_coding			hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF3		SPPLA/X		-		977-989/1584				I3L2Y2_HUMAN,I3L2A5_HUMAN			YES	ASPHD1,frameshift_variant,p.Pro244GlyfsTer28,ENST00000308748,NM_181718.3;ASPHD1,5_prime_UTR_variant,,ENST00000483405,;ASPHD1,5_prime_UTR_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,upstream_gene_variant,,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,upstream_gene_variant,,ENST00000346932,NM_001114100.2;SEZ6L2,upstream_gene_variant,,ENST00000537485,NM_001243333.1;KCTD13,downstream_gene_variant,,ENST00000568000,NM_178863.3;KCTD13,downstream_gene_variant,,ENST00000568995,;SEZ6L2,upstream_gene_variant,,ENST00000568380,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,frameshift_variant,p.Pro244GlyfsTer28,ENST00000566693,;ASPHD1,frameshift_variant,p.Pro244GlyfsTer28,ENST00000414952,;KCTD13,downstream_gene_variant,,ENST00000566842,;KCTD13,downstream_gene_variant,,ENST00000308768,;							HIGH	725-737/1173		ASPH1_HUMAN			Transcript	4		.	ENSP00000311447		CCDS10660.1			1	
CREB3L1	0	LGGM	GRCh37	11	46333924	46333924	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	33	8	.	.	ENST00000529193.1:c.802C>A	p.Arg268=	p.R268=	ENST00000529193	NM_052854.3	268	Cgg/Agg	0	1	1	UPI000004ABFF	0		ENST00000529193		ENSG00000157613	18856		41			HGNC	p.R268R		CREB3L1		SNV			1				ENST00000529193	protein_coding			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF24		R		A		1253/2687				E9PK33_HUMAN			YES	CREB3L1,synonymous_variant,p.=,ENST00000529193,NM_052854.3;CREB3L1,synonymous_variant,p.=,ENST00000288400,;CREB3L1,synonymous_variant,p.=,ENST00000530518,;CREB3L1,downstream_gene_variant,,ENST00000534787,;CREB3L1,upstream_gene_variant,,ENST00000534616,;CREB3L1,non_coding_transcript_exon_variant,,ENST00000527342,;CREB3L1,upstream_gene_variant,,ENST00000530244,;							LOW	802/1560		CR3L1_HUMAN			Transcript			.	ENSP00000434939		CCDS53620.1			1	
KIAA1024	0	LGGM	GRCh37	15	79750295	79750295	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	55	8	.	.	ENST00000305428.3:c.1806G>A	p.Arg602=	p.R602=	ENST00000305428	NM_015206.2	602	agG/agA	0	1	1	UPI00001B2F56	0		ENST00000305428		ENSG00000169330	29172		63			HGNC	p.R602R		KIAA1024		SNV							ENST00000559272	protein_coding			hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2		R		A		1881/6732							YES	KIAA1024,synonymous_variant,p.=,ENST00000305428,NM_015206.2;KIAA1024,synonymous_variant,p.=,ENST00000559272,;							LOW	1806/2751		K1024_HUMAN			Transcript			.	ENSP00000307461		CCDS32306.1			1	
LRRC7	0	LGGM	GRCh37	1	70509635	70509635	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	13	9	.	.	ENST00000035383.5:c.3856-2A>T		p.X1286_splice	ENST00000035383	NM_020794.2			0	1	1	UPI000006F29B	0		ENST00000035383		ENSG00000033122	18531		22			HGNC	-		LRRC7		SNV							ENST00000035383	protein_coding							T		-/5000							YES	LRRC7,splice_acceptor_variant,,ENST00000035383,NM_020794.2;LRRC7,splice_acceptor_variant,,ENST00000415775,;LRRC7,intron_variant,,ENST00000310961,;							HIGH	3856/4614		LRRC7_HUMAN			Transcript			.	ENSP00000035383		CCDS645.1			1	
NFIC	0	LGGM	GRCh37	19	3382101	3382101	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	18	9	.	.	ENST00000443272.2:c.422T>A	p.Ile141Asn	p.I141N	ENST00000443272	NM_001245002.1	141	aTc/aAc	0	1	1	UPI000012FFC8	0	NA	ENST00000443272		ENSG00000141905	7786		27	2.125		HGNC	p.I141N		NFIC		SNV							ENST00000341919	protein_coding	getma.org/?cm=var&var=hg19,19,3382101,T,A&fts=all		PROSITE_profiles:PS51080,hmmpanther:PTHR11492,Pfam_domain:PF03165,SMART_domains:SM00523		I/N		A	medium	473/1716		getma.org/?cm=msa&ty=f&p=NFIC_HUMAN&rb=69&re=173&var=I141N	deleterious(0)				YES	NFIC,missense_variant,p.Ile132Asn,ENST00000589123,NM_205843.2,NM_001245005.1;NFIC,missense_variant,p.Ile132Asn,ENST00000346156,;NFIC,missense_variant,p.Ile132Asn,ENST00000395111,;NFIC,missense_variant,p.Ile141Asn,ENST00000443272,NM_001245002.1;NFIC,missense_variant,p.Ile141Asn,ENST00000341919,NM_005597.3;NFIC,missense_variant,p.Ile141Asn,ENST00000590282,NM_001245004.1;NFIC,missense_variant,p.Ile132Asn,ENST00000586919,;							MODERATE	422/1527	I141N	NFIC_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000396843		CCDS59330.1			1	
LILRA6	0	LGGM	GRCh37	19	54745699	54745699	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	47	9	.	.	ENST00000396365.2:c.411G>A	p.Gly137=	p.G137=	ENST00000396365	NM_024318.2	137	ggG/ggA	0	1	1	UPI000022A9CA	0		ENST00000396365		ENSG00000244482	15495		56			HGNC	p.G137G	rs766374528	LILRA6		SNV							ENST00000440558	protein_coding			Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738		G		T		451/1890	1.51E-05						YES	LILRA6,synonymous_variant,p.=,ENST00000440558,;LILRA6,synonymous_variant,p.=,ENST00000270464,;LILRA6,synonymous_variant,p.=,ENST00000419410,;LILRA6,synonymous_variant,p.=,ENST00000391735,;LILRA6,synonymous_variant,p.=,ENST00000396365,NM_024318.2;LILRA6,synonymous_variant,p.=,ENST00000245621,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,synonymous_variant,p.=,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;							LOW	411/1446		LIRA6_HUMAN			Transcript			.	ENSP00000379651	8.27E-06	CCDS42610.1			1	
DAO	0	LGGM	GRCh37	12	109278949	109278949	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	67	9	.	.	ENST00000228476.3:c.167T>C	p.Leu56Pro	p.L56P	ENST00000228476	NM_001917.4	56	cTt/cCt	0	1	1	UPI0000130F5F	0	getma.org/pdb.php?prot=OXDA_HUMAN&from=2&to=329&var=L56P	ENST00000228476		ENSG00000110887	2671		76	2.58		HGNC	p.L56P	rs760343510	DAO		SNV			1				ENST00000549215	protein_coding	getma.org/?cm=var&var=hg19,12,109278949,T,C&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971		L/P		C	medium	371/1756	1.51E-05	getma.org/?cm=msa&ty=f&p=OXDA_HUMAN&rb=2&re=329&var=L56P	deleterious(0.02)	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN			YES	DAO,missense_variant,p.Leu56Pro,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Leu56Pro,ENST00000551281,;DAO,missense_variant,p.Leu56Pro,ENST00000547166,;DAO,intron_variant,,ENST00000547768,;DAO,downstream_gene_variant,,ENST00000548052,;DAO,missense_variant,p.Leu56Pro,ENST00000549215,;DAO,missense_variant,p.Leu56Pro,ENST00000547122,;							MODERATE	167/1044	L56P	OXDA_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000228476	8.24E-06	CCDS9122.1			1	
TMTC2	0	LGGM	GRCh37	12	83360753	83360753	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	34	10	.	.	ENST00000321196.3:c.1925C>T	p.Pro642Leu	p.P642L	ENST00000321196	NM_152588.1	642	cCa/cTa	0	1	1	UPI0000073F0F	0	NA	ENST00000321196		ENSG00000179104	25440		44	2.545		HGNC	p.P636L		TMTC2		SNV							ENST00000549919	protein_coding	getma.org/?cm=var&var=hg19,12,83360753,C,T&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Gene3D:1.25.40.10,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452		P/L		T	medium	2632/5681		getma.org/?cm=msa&ty=f&p=TMTC2_HUMAN&rb=641&re=708&var=P642L	deleterious(0)				YES	TMTC2,missense_variant,p.Pro636Leu,ENST00000549919,;TMTC2,missense_variant,p.Pro642Leu,ENST00000321196,NM_152588.1;TMTC2,downstream_gene_variant,,ENST00000548305,;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;							MODERATE	1925/2511	P642L	TMTC2_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000322300		CCDS9025.1			1	
FLG	0	LGGM	GRCh37	1	152280173	152280173	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	65	10	.	.	ENST00000368799.1:c.7189C>A	p.Gln2397Lys	p.Q2397K	ENST00000368799	NM_002016.1	2397	Caa/Aaa	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		75	2.43		HGNC	p.Q2397K		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152280173,G,T&fts=all				Q/K		T	medium	7225/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2375&re=2524&var=Q2397K		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Gln2397Lys,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	7189/12186	Q2397K	FILA_HUMAN			Transcript		benign(0.042)	.	ENSP00000357789		CCDS30860.1			1	
NBPF10	0	LGGM	GRCh37	1	145304468	145304468	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	254	10	.	.	ENST00000342960.5:c.1401A>T	p.Glu467Asp	p.E467D	ENST00000342960	NM_001039703.5	467	gaA/gaT	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		264	2.02		HGNC	p.E196D		NBPF10		SNV							ENST00000369338	protein_coding	getma.org/?cm=var&var=hg19,1,145304468,A,T&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		E/D		T	medium	1436/10697		getma.org/?cm=msa&ty=f&p=H7BY67_HUMAN&rb=201&re=340&var=E209D		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Glu467Asp,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Glu196Asp,ENST00000369339,;NBPF10,missense_variant,p.Glu196Asp,ENST00000369338,;NBPF10,missense_variant,p.Glu133Asp,ENST00000605176,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,missense_variant,p.Glu467Asp,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;							MODERATE	1401/10662	E209D				Transcript		possibly_damaging(0.614)	.	ENSP00000345684					1	
MCHR2	0	LGGM	GRCh37	6	100395846	100395846	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	33	10	.	.	ENST00000281806.2:c.184T>C	p.Ser62Pro	p.S62P	ENST00000281806	NM_001040179.1	62	Tcc/Ccc	0	1	1	UPI000003730F	0	getma.org/pdb.php?prot=MCHR2_HUMAN&from=51&to=306&var=S62P	ENST00000281806		ENSG00000152034	20867		43	2.31		HGNC	p.S62P		MCHR2		SNV							ENST00000281806	protein_coding	getma.org/?cm=var&var=hg19,6,100395846,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01784,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF7,Superfamily_domains:SSF81321		S/P		G	medium	499/2368		getma.org/?cm=msa&ty=f&p=MCHR2_HUMAN&rb=51&re=306&var=S62P	tolerated(0.09)				YES	MCHR2,missense_variant,p.Ser62Pro,ENST00000281806,NM_001040179.1;MCHR2,missense_variant,p.Ser62Pro,ENST00000369212,NM_032503.2;							MODERATE	184/1023	S62P	MCHR2_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000281806		CCDS5044.1			1	
RGS3	0	LGGM	GRCh37	9	116224118	116224118	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	37	10	.	.	ENST00000374140.2:c.212G>C	p.Gly71Ala	p.G71A	ENST00000374140	NM_144488.5	71	gGt/gCt	0	1		UPI00001C0F58	0	NA	ENST00000350696		ENSG00000138835	9999		47	0.55		HGNC	p.G71A		RGS3		SNV							ENST00000350696	protein_coding	getma.org/?cm=var&var=hg19,9,116224118,G,C&fts=all				G/A		C	neutral	229/4398		getma.org/?cm=msa&ty=f&p=RGS3_HUMAN&rb=1&re=151&var=G71A	deleterious_low_confidence(0)	H7BXY1_HUMAN,C9J6G2_HUMAN				RGS3,missense_variant,p.Gly71Ala,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,missense_variant,p.Gly71Ala,ENST00000350696,;RGS3,upstream_gene_variant,,ENST00000317613,NM_017790.4;RGS3,upstream_gene_variant,,ENST00000478599,;							MODERATE	212/3597	G71A	RGS3_HUMAN			Transcript		benign(0)	.	ENSP00000259406		CCDS43869.1			1	
FSIP2	0	LGGM	GRCh37	2	186671383	186671383	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	31	10	.	.	ENST00000343098.5:c.17617G>A	p.Ala5873Thr	p.A5873T	ENST00000343098	NM_173651.2	5873	Gct/Act	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675	0.000176	41	1.04		HGNC	p.A5784T	rs774274371	FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186671383,G,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		A/T		A	low	17350/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=5711&re=5910&var=A5784T						FSIP2,missense_variant,p.Ala5873Thr,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Ala5784Thr,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;	0.000236						MODERATE	17350/20724	A5784T	FSIP2_HUMAN			Transcript		possibly_damaging(0.57)	.	ENSP00000401306	3.31E-05				1	
RNPEP	0	LGGM	GRCh37	1	201966449	201966449	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	33	10	.	.	ENST00000295640.4:c.857A>G	p.Tyr286Cys	p.Y286C	ENST00000295640	NM_020216.3	286	tAt/tGt	0	1	1	UPI00000463FA	0	getma.org/pdb.php?prot=AMPB_HUMAN&from=31&to=417&var=Y286C	ENST00000295640		ENSG00000176393	10078		43	3.035		HGNC	p.Y247C		RNPEP		SNV							ENST00000367286	protein_coding	getma.org/?cm=var&var=hg19,1,201966449,A,G&fts=all		Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF153,Superfamily_domains:SSF55486		Y/C		G	medium	900/2427		getma.org/?cm=msa&ty=f&p=AMPB_HUMAN&rb=31&re=417&var=Y286C	tolerated(0.12)				YES	RNPEP,missense_variant,p.Tyr286Cys,ENST00000295640,NM_020216.3;RNPEP,missense_variant,p.Tyr247Cys,ENST00000367286,;RNPEP,missense_variant,p.Tyr155Cys,ENST00000447312,;RNPEP,missense_variant,p.Tyr32Cys,ENST00000449524,;RP11-465N4.4,downstream_gene_variant,,ENST00000419190,;RP11-465N4.5,upstream_gene_variant,,ENST00000608886,;RP11-465N4.4,downstream_gene_variant,,ENST00000415582,;RNPEP,splice_region_variant,,ENST00000471105,;RNPEP,splice_region_variant,,ENST00000492849,;RNPEP,splice_region_variant,,ENST00000487116,;RNPEP,splice_region_variant,,ENST00000481780,;RNPEP,splice_region_variant,,ENST00000479726,;RNPEP,intron_variant,,ENST00000478617,;RNPEP,intron_variant,,ENST00000492587,;RNPEP,upstream_gene_variant,,ENST00000479531,;RNPEP,upstream_gene_variant,,ENST00000464707,;							MODERATE	857/1953	Y286C	AMPB_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000295640		CCDS1418.1			1	
IBTK	0	LGGM	GRCh37	6	82921235	82921235	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	24	10	.	.	ENST00000306270.7:c.2346T>A	p.Cys782Ter	p.C782*	ENST00000306270	NM_015525.2	782	tgT/tgA	0	1	1	UPI000041929F	0	NA	ENST00000306270		ENSG00000005700	17853		34	0		HGNC	p.C581X		IBTK		SNV							ENST00000503631	protein_coding	getma.org/?cm=var&var=hg19,6,82921235,A,T&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		C/*		T	NA	2896/6054		NA					YES	IBTK,stop_gained,p.Cys782Ter,ENST00000306270,NM_015525.2;IBTK,stop_gained,p.Cys782Ter,ENST00000510291,;IBTK,stop_gained,p.Cys581Ter,ENST00000503631,;RNU6-130P,upstream_gene_variant,,ENST00000411112,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;							HIGH	2346/4062	C782*	IBTK_HUMAN			Transcript			.	ENSP00000305721		CCDS34490.1			1	
ATP6V0E1	0	LGGM	GRCh37	5	172447275	172447275	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	18	11	.	.	ENST00000519374.1:c.187C>T	p.Leu63Phe	p.L63F	ENST00000519374	NM_003945.3	63	Ctc/Ttc	0	1		UPI0000049CBD	0		ENST00000517669		ENSG00000113732	863		29			HGNC	p.L47F		ATP6V0E1		SNV							ENST00000265093	protein_coding			Pfam_domain:PF05493,PIRSF_domain:PIRSF038097,hmmpanther:PTHR12263,hmmpanther:PTHR12263:SF1		L/F		T		217/502			deleterious(0)					ATP6V0E1,missense_variant,p.Leu63Phe,ENST00000519374,NM_003945.3;ATP6V0E1,missense_variant,p.Leu47Phe,ENST00000265093,;ATP6V0E1,missense_variant,p.Leu63Phe,ENST00000517669,;ATP6V0E1,intron_variant,,ENST00000519911,;SNORA74B,upstream_gene_variant,,ENST00000391100,NR_002988.1;							MODERATE	187/246		VA0E1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000427941		CCDS4383.1			1	
C1orf173	0	LGGM	GRCh37	1	75037763	75037763	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	79	11	.	.	ENST00000326665.5:c.3631G>C	p.Asp1211His	p.D1211H	ENST00000326665	NM_001002912.4	1211	Gat/Cat	0	1	1	UPI0000237200	0	NA	ENST00000326665		ENSG00000178965	25346		90	0.69		HGNC	p.D1211H		C1orf173		SNV							ENST00000326665	protein_coding	getma.org/?cm=var&var=hg19,1,75037763,C,G&fts=all		hmmpanther:PTHR23034		D/H		G	neutral	3850/7159		getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=411&re=1274&var=D1211H	tolerated(0.08)				YES	C1orf173,missense_variant,p.Asp1211His,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;							MODERATE	3631/4593	D1211H	CA173_HUMAN			Transcript		benign(0.346)	.	ENSP00000322609		CCDS30755.1			1	
PLEKHH2	0	LGGM	GRCh37	2	43937404	43937404	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	45	11	.	.	ENST00000282406.4:c.2149G>A	p.Val717Ile	p.V717I	ENST00000282406	NM_172069.3	717	Gtc/Atc	0	1	1	UPI000016021B	0	getma.org/pdb.php?prot=PKHH2_HUMAN&from=704&to=797&var=V717I	ENST00000282406		ENSG00000152527	30506		56	0.71		HGNC	p.V717I		PLEKHH2		SNV							ENST00000282406	protein_coding	getma.org/?cm=var&var=hg19,2,43937404,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		V/I		A	neutral	2259/6981		getma.org/?cm=msa&ty=f&p=PKHH2_HUMAN&rb=704&re=797&var=V717I	tolerated(0.09)				YES	PLEKHH2,missense_variant,p.Val717Ile,ENST00000282406,NM_172069.3;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;							MODERATE	2149/4482	V717I	PKHH2_HUMAN			Transcript		benign(0.021)	.	ENSP00000282406		CCDS1812.1			1	
FAXC	0	LGGM	GRCh37	6	99729216	99729216	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	38	11	.	.	ENST00000389677.5:c.1054A>G	p.Ser352Gly	p.S352G	ENST00000389677	NM_032511.2	352	Agc/Ggc	0	1	1	UPI000006FEA4	0	NA	ENST00000389677		ENSG00000146267	20742		49	0.69		HGNC	p.S72G		FAXC		SNV							ENST00000538471	protein_coding	getma.org/?cm=var&var=hg19,6,99729216,T,C&fts=all		hmmpanther:PTHR12289,hmmpanther:PTHR12289:SF27		S/G		C	neutral	1337/11508		getma.org/?cm=msa&ty=f&p=FAXC_HUMAN&rb=201&re=400&var=S352G	tolerated_low_confidence(0.19)	Q9BR58_HUMAN			YES	FAXC,missense_variant,p.Ser352Gly,ENST00000389677,NM_032511.2;FAXC,missense_variant,p.Ser72Gly,ENST00000538471,;FAXC,non_coding_transcript_exon_variant,,ENST00000461803,;							MODERATE	1054/1230	S352G	FAXC_HUMAN			Transcript		benign(0.013)	.	ENSP00000374328		CCDS34500.1			1	
KCTD7	0	LGGM	GRCh37	7	66262382	66262382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	37	11	.	.	ENST00000284957.5:c.617A>T	p.Lys206Met	p.K206M	ENST00000284957	NM_001287062.1	206	aAg/aTg	0	1	1	UPI00000730D5	0	getma.org/pdb.php?prot=E9PFK9_HUMAN&from=54&to=253&var=K219M	ENST00000510829		ENSG00000243335	21957		48	1.04		HGNC	p.K206M		KCTD7		SNV			1				ENST00000450873	protein_coding	getma.org/?cm=var&var=hg19,7,66262382,A,T&fts=all		Superfamily_domains:0044157,hmmpanther:PTHR23101:SF49,hmmpanther:PTHR23101		K/M		T	low	771/3805		getma.org/?cm=msa&ty=f&p=E9PFK9_HUMAN&rb=54&re=253&var=K219M	deleterious(0.02)	C9JDA2_HUMAN,B3KMF1_HUMAN			YES	KCTD7,missense_variant,p.Lys246Met,ENST00000380828,;KCTD7,missense_variant,p.Lys206Met,ENST00000510829,NM_014504.2;RABGEF1,missense_variant,p.Lys206Met,ENST00000284957,NM_001287062.1;RABGEF1,missense_variant,p.Lys219Met,ENST00000439720,;RABGEF1,missense_variant,p.Lys206Met,ENST00000450873,;RABGEF1,missense_variant,p.Lys220Met,ENST00000437078,NM_001287061.1;KCTD7,missense_variant,p.Lys206Met,ENST00000451741,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000484547,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000461017,;KCTD7,3_prime_UTR_variant,,ENST00000503687,;RABGEF1,3_prime_UTR_variant,,ENST00000607882,;							MODERATE	617/1476	K219M				Transcript		benign(0.073)	.	ENSP00000421124		CCDS5535.1			1	
ATG3	0	LGGM	GRCh37	3	112277237	112277237	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	49	11	.	.	ENST00000283290.5:c.100A>G	p.Ile34Val	p.I34V	ENST00000283290	NM_022488.4	34	Att/Gtt	0	1	1	UPI0000073DB4	0	getma.org/pdb.php?prot=ATG3_HUMAN&from=7&to=192&var=I34V	ENST00000283290		ENSG00000144848	20962		60	1.905		HGNC	p.I34V		ATG3		SNV							ENST00000283290	protein_coding	getma.org/?cm=var&var=hg19,3,112277237,T,C&fts=all		Pfam_domain:PF03986,hmmpanther:PTHR12866,hmmpanther:PTHR12866:SF2		I/V		C	medium	535/1570		getma.org/?cm=msa&ty=f&p=ATG3_HUMAN&rb=7&re=192&var=I34V	tolerated(0.1)	C9JNW8_HUMAN			YES	ATG3,missense_variant,p.Ile34Val,ENST00000402314,NM_001278712.1;ATG3,missense_variant,p.Ile34Val,ENST00000283290,NM_022488.4;ATG3,5_prime_UTR_variant,,ENST00000492886,;SLC35A5,upstream_gene_variant,,ENST00000492406,NM_017945.3;SLC35A5,upstream_gene_variant,,ENST00000484995,;SLC35A5,upstream_gene_variant,,ENST00000468642,;ATG3,non_coding_transcript_exon_variant,,ENST00000495756,;ATG3,missense_variant,p.Ile34Val,ENST00000496423,;ATG3,non_coding_transcript_exon_variant,,ENST00000488910,;ATG3,non_coding_transcript_exon_variant,,ENST00000465980,;SLC35A5,upstream_gene_variant,,ENST00000261034,;							MODERATE	100/945	I34V	ATG3_HUMAN			Transcript		benign(0.015)	.	ENSP00000283290		CCDS2966.1			1	
PUM2	0	LGGM	GRCh37	2	20482855	20482855	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	43	11	.	.	ENST00000338086.5:c.1573G>A	p.Gly525Arg	p.G525R	ENST00000338086	NM_015317.1	525	Gga/Aga	0	1	1	UPI0000001665	0	NA	ENST00000338086		ENSG00000055917	14958		54	1.845		HGNC	p.G469R		PUM2		SNV							ENST00000536417	protein_coding	getma.org/?cm=var&var=hg19,2,20482855,C,T&fts=all		hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537		G/R		T	low	1596/6112		getma.org/?cm=msa&ty=f&p=PUM2_HUMAN&rb=1&re=702&var=G525R	deleterious(0)	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN			YES	PUM2,missense_variant,p.Gly525Arg,ENST00000361078,;PUM2,missense_variant,p.Gly525Arg,ENST00000338086,NM_015317.1,NM_001282752.1;PUM2,missense_variant,p.Gly525Arg,ENST00000319801,NM_001282791.1,NM_001282790.1;PUM2,missense_variant,p.Gly416Arg,ENST00000440577,;PUM2,missense_variant,p.Gly525Arg,ENST00000403432,;PUM2,missense_variant,p.Gly469Arg,ENST00000536417,;							MODERATE	1573/3195	G525R	PUM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000338173		CCDS1698.1			1	
TOM1L1	0	LGGM	GRCh37	17	53037942	53037942	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	47	12	.	.	ENST00000575882.1:c.1386A>C	p.Glu462Asp	p.E462D	ENST00000575882	NM_005486.2	462	gaA/gaC	0	1	1	UPI000003E7E0	0	NA	ENST00000575882		ENSG00000141198	11983		59	2.045		HGNC	p.E385D		TOM1L1		SNV							ENST00000348161	protein_coding	getma.org/?cm=var&var=hg19,17,53037942,A,C&fts=all		hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,PIRSF_domain:PIRSF036948		E/D		C	medium	1739/2500		getma.org/?cm=msa&ty=f&p=TM1L1_HUMAN&rb=300&re=476&var=E462D	tolerated(0.13)	I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN			YES	TOM1L1,missense_variant,p.Glu462Asp,ENST00000575882,NM_005486.2;TOM1L1,missense_variant,p.Glu451Asp,ENST00000445275,;TOM1L1,missense_variant,p.Glu385Asp,ENST00000348161,;TOM1L1,missense_variant,p.Glu350Asp,ENST00000540336,;TOM1L1,missense_variant,p.Glu385Asp,ENST00000536554,;TOM1L1,missense_variant,p.Glu455Asp,ENST00000572158,;COX11,downstream_gene_variant,,ENST00000299335,NM_004375.3;COX11,downstream_gene_variant,,ENST00000571584,;TOM1L1,downstream_gene_variant,,ENST00000574318,;COX11,intron_variant,,ENST00000573912,;COX11,intron_variant,,ENST00000574989,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000574653,;COX11,intron_variant,,ENST00000576370,;COX11,intron_variant,,ENST00000572558,NM_001162861.1,NM_001162862.1;COX11,intron_variant,,ENST00000574821,;							MODERATE	1386/1431	E462D	TM1L1_HUMAN			Transcript		benign(0.04)	.	ENSP00000460823		CCDS11582.1			1	
LRP1	0	LGGM	GRCh37	12	57548067	57548067	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	54	12	.	.	ENST00000243077.3:c.918C>T	p.Val306=	p.V306=	ENST00000243077	NM_002332.2	306	gtC/gtT	0	1	1	UPI00001B044F	0		ENST00000243077		ENSG00000123384	6692		66			HGNC	p.V306V		LRP1		SNV							ENST00000554174	protein_coding			Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00135,Superfamily_domains:SSF63825		V		T		1384/14897				Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,synonymous_variant,p.=,ENST00000554174,;LRP1,downstream_gene_variant,,ENST00000338962,;LRP1,downstream_gene_variant,,ENST00000553277,;							LOW	918/13635		LRP1_HUMAN			Transcript			.	ENSP00000243077		CCDS8932.1			1	
UGP2	0	LGGM	GRCh37	2	64113597	64113597	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	58	12	.	.	ENST00000337130.5:c.996A>G	p.Leu332=	p.L332=	ENST00000337130	NM_006759.3	332	ctA/ctG	0	1	1	UPI000000DB95	0		ENST00000337130		ENSG00000169764	12527	0.000261	70			HGNC	p.L321L	rs771296276	UGP2		SNV							ENST00000394417	protein_coding			Gene3D:3.90.550.10,Pfam_domain:PF01704,PIRSF_domain:PIRSF000806,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF1,Superfamily_domains:SSF53448		L		G		1472/2338				Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN			YES	UGP2,synonymous_variant,p.=,ENST00000337130,NM_006759.3;UGP2,synonymous_variant,p.=,ENST00000394417,NM_001001521.1;UGP2,synonymous_variant,p.=,ENST00000467648,;UGP2,synonymous_variant,p.=,ENST00000445915,;UGP2,downstream_gene_variant,,ENST00000488245,;UGP2,downstream_gene_variant,,ENST00000491621,;UGP2,downstream_gene_variant,,ENST00000482668,;UGP2,downstream_gene_variant,,ENST00000497883,;UGP2,downstream_gene_variant,,ENST00000475462,;UGP2,downstream_gene_variant,,ENST00000472047,;ACA59,upstream_gene_variant,,ENST00000515966,;UGP2,non_coding_transcript_exon_variant,,ENST00000487469,;UGP2,downstream_gene_variant,,ENST00000495020,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,downstream_gene_variant,,ENST00000466642,;UGP2,downstream_gene_variant,,ENST00000487042,;UGP2,downstream_gene_variant,,ENST00000493222,;UGP2,downstream_gene_variant,,ENST00000467999,;UGP2,downstream_gene_variant,,ENST00000497510,;UGP2,downstream_gene_variant,,ENST00000467400,;UGP2,downstream_gene_variant,,ENST00000483108,;UGP2,downstream_gene_variant,,ENST00000494536,;UGP2,downstream_gene_variant,,ENST00000496334,;UGP2,downstream_gene_variant,,ENST00000483461,;							LOW	996/1527		UGPA_HUMAN			Transcript			.	ENSP00000338703	2.47E-05	CCDS1875.1			1	
FAM177A1	0	LGGM	GRCh37	14	35548174	35548174	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	24	12	.	.	ENST00000280987.4:c.448A>G	p.Ile150Val	p.I150V	ENST00000280987	NM_173607.3	150	Atc/Gtc	0	1		UPI000006E43B	0	NA	ENST00000382406		ENSG00000151327	19829		36	1.425		HGNC	p.I150V	rs771905703	FAM177A1		SNV							ENST00000280987	protein_coding	getma.org/?cm=var&var=hg19,14,35548174,A,G&fts=all		hmmpanther:PTHR31206:SF5,hmmpanther:PTHR31206,Pfam_domain:PF14774		I/V		G	low	436/858	1.51E-05	getma.org/?cm=msa&ty=f&p=F177A_HUMAN&rb=1&re=211&var=I127V	deleterious(0.03)	G3V583_HUMAN,G3V3Z5_HUMAN				FAM177A1,missense_variant,p.Ile127Val,ENST00000396472,NM_001079519.1;FAM177A1,missense_variant,p.Ile150Val,ENST00000280987,NM_173607.3;FAM177A1,missense_variant,p.Ile127Val,ENST00000382406,;FAM177A1,missense_variant,p.Ile95Val,ENST00000554794,;FAM177A1,3_prime_UTR_variant,,ENST00000553955,;FAM177A1,upstream_gene_variant,,ENST00000555260,;							MODERATE	379/642	I127V	F177A_HUMAN			Transcript		benign(0.065)	.	ENSP00000371843	8.24E-06	CCDS41944.1			1	
RB1	0	LGGM	GRCh37	13	49039443	49039443	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	41	12	.	.	ENST00000267163.4:c.2428A>T	p.Lys810Ter	p.K810*	ENST00000267163	NM_000321.2	810	Aag/Tag	0	1	1	UPI0000001C79	0	NA	ENST00000267163		ENSG00000139687	9884		53	0		HGNC	p.K810*		RB1		SNV			1				ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,49039443,A,T&fts=all		hmmpanther:PTHR13742,Pfam_domain:PF08934		K/*		T	NA	2566/4840		NA		Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,stop_gained,p.Lys810Ter,ENST00000267163,NM_000321.2;							HIGH	2428/2787	K810*	RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
KIAA0196	0	LGGM	GRCh37	8	126056314	126056314	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	18	13	.	.	ENST00000318410.7:c.2690A>C	p.Lys897Thr	p.K897T	ENST00000318410	NM_014846.3	897	aAa/aCa	0	1	1	UPI000013943B	0	NA	ENST00000318410		ENSG00000164961	28984		31	2.125		HGNC	p.K749T		KIAA0196		SNV			1				ENST00000517845	protein_coding	getma.org/?cm=var&var=hg19,8,126056314,T,G&fts=all		hmmpanther:PTHR15691,Pfam_domain:PF10266		K/T		G	medium	3040/4187		getma.org/?cm=msa&ty=f&p=STRUM_HUMAN&rb=23&re=1103&var=K897T	tolerated(0.08)	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN			YES	KIAA0196,missense_variant,p.Lys897Thr,ENST00000318410,NM_014846.3;KIAA0196,missense_variant,p.Lys749Thr,ENST00000517845,;KIAA0196-AS1,intron_variant,,ENST00000519140,;KIAA0196,downstream_gene_variant,,ENST00000530856,;							MODERATE	2690/3480	K897T	STRUM_HUMAN			Transcript		benign(0.366)	.	ENSP00000318016		CCDS6355.1			1	
FAM47A	0	LGGM	GRCh37	X	34150007	34150007	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	19	13	.	.	ENST00000346193.3:c.389C>T	p.Pro130Leu	p.P130L	ENST00000346193	NM_203408.3	130	cCc/cTc	0	1	1	UPI000013F1F4	0	NA	ENST00000346193		ENSG00000185448	29962		32	2.195		HGNC	p.P130L		FAM47A		SNV							ENST00000346193	protein_coding	getma.org/?cm=var&var=hg19,X,34150007,G,A&fts=all		hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642		P/L		A	medium	441/2579		getma.org/?cm=msa&ty=f&p=FA47A_HUMAN&rb=1&re=169&var=P130L	deleterious(0)				YES	FAM47A,missense_variant,p.Pro130Leu,ENST00000346193,NM_203408.3;							MODERATE	389/2376	P130L	FA47A_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000345029		CCDS43926.1			1	
EPS8	0	LGGM	GRCh37	12	15811445	15811445	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	57	13	.	.	ENST00000281172.5:c.1012G>C	p.Gly338Arg	p.G338R	ENST00000281172	NM_004447.5	338	Gga/Cga	0	1	1	UPI000012A0BC	0	NA	ENST00000281172		ENSG00000151491	3420		70	1.795		HGNC	p.G78R		EPS8		SNV			1				ENST00000540613	protein_coding	getma.org/?cm=var&var=hg19,12,15811445,C,G&fts=all		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21		G/R		G	low	1449/4061		getma.org/?cm=msa&ty=f&p=EPS8_HUMAN&rb=195&re=394&var=G338R	deleterious(0)	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN			YES	EPS8,missense_variant,p.Gly338Arg,ENST00000281172,NM_004447.5;EPS8,missense_variant,p.Gly338Arg,ENST00000543523,;EPS8,missense_variant,p.Gly338Arg,ENST00000543612,;EPS8,missense_variant,p.Gly78Arg,ENST00000540613,;EPS8,missense_variant,p.Gly78Arg,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,3_prime_UTR_variant,,ENST00000546261,;EPS8,non_coding_transcript_exon_variant,,ENST00000535734,;EPS8,upstream_gene_variant,,ENST00000541465,;							MODERATE	1012/2469	G338R	EPS8_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000281172		CCDS31753.1			1	
RHOJ	0	LGGM	GRCh37	14	63757747	63757747	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	43	13	.	.	ENST00000316754.3:c.*5G>T		*2*	ENST00000316754	NM_020663.4			0	1	1	UPI0000133894	0		ENST00000316754		ENSG00000126785	688		56			HGNC	p.V103F		RHOJ		SNV							ENST00000557447	protein_coding							T		1112/3302							YES	RHOJ,3_prime_UTR_variant,,ENST00000316754,NM_020663.4;RHOJ,missense_variant,p.Val103Phe,ENST00000557447,;							MODIFIER	-/645		RHOJ_HUMAN			Transcript			.	ENSP00000316729		CCDS9757.1			1	
MUC16	0	LGGM	GRCh37	19	9075231	9075231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	60	14	.	.	ENST00000397910.4:c.12215C>A	p.Pro4072His	p.P4072H	ENST00000397910	NM_024690.2	4072	cCc/cAc	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		74	1.5		HGNC	p.P4072H		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9075231,G,T&fts=all				P/H		T	low	12419/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=P4074H		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Pro4072His,ENST00000397910,NM_024690.2;							MODERATE	12215/43524	P4074H				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
FAM135B	0	LGGM	GRCh37	8	139165372	139165372	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	34	14	.	.	ENST00000395297.1:c.1346T>C	p.Met449Thr	p.M449T	ENST00000395297	NM_015912.3	449	aTg/aCg	0	1	1	UPI000057A0DB	0	NA	ENST00000395297		ENSG00000147724	28029		48	0		HGNC	p.M449T		FAM135B		SNV							ENST00000276737	protein_coding	getma.org/?cm=var&var=hg19,8,139165372,A,G&fts=all		hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3		M/T		G	neutral	1517/6962		getma.org/?cm=msa&ty=f&p=F135B_HUMAN&rb=370&re=569&var=M449T	tolerated(0.52)	J3QSR3_HUMAN			YES	FAM135B,missense_variant,p.Met449Thr,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Met449Thr,ENST00000276737,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000467365,;FAM135B,upstream_gene_variant,,ENST00000395295,;							MODERATE	1346/4221	M449T	F135B_HUMAN			Transcript		benign(0)	.	ENSP00000378710		CCDS6375.2			1	
SPECC1	0	LGGM	GRCh37	17	20163586	20163586	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	43	14	.	.	ENST00000261503.5:c.2919G>T	p.Gln973His	p.Q973H	ENST00000261503	NM_001033553.2	973	caG/caT	0	1	1	UPI000020187D	0	getma.org/pdb.php?prot=CYTSB_HUMAN&from=965&to=1067&var=Q973H	ENST00000261503		ENSG00000128487	30615		57	4.015		HGNC	p.Q973H		SPECC1		SNV							ENST00000395527	protein_coding	getma.org/?cm=var&var=hg19,17,20163586,G,T&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF3,SMART_domains:SM00033,Superfamily_domains:SSF47576		Q/H		T	high	2970/3948		getma.org/?cm=msa&ty=f&p=CYTSB_HUMAN&rb=965&re=1067&var=Q973H	deleterious(0.01)	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN			YES	SPECC1,missense_variant,p.Gln892His,ENST00000395530,NM_001033555.2;SPECC1,missense_variant,p.Gln973His,ENST00000261503,NM_001033553.2;SPECC1,missense_variant,p.Gln973His,ENST00000395527,NM_001243439.1;SPECC1,missense_variant,p.Gln478His,ENST00000581399,;SPECC1,missense_variant,p.Gln313His,ENST00000536879,;AC004702.2,intron_variant,,ENST00000580225,;							MODERATE	2919/3207	Q973H	CYTSB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261503		CCDS32590.1			1	
TRAV2	0	LGGM	GRCh37	14	22180612	22180612	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	47	14	.	.	ENST00000390424.2:c.59G>A	p.Trp20Ter	p.W20*	ENST00000390424		20	tGg/tAg	0	1	1	UPI000011C701	0		ENST00000390424		ENSG00000211776	12116		61			HGNC	p.W20X		TRAV2		SNV							ENST00000390424	TR_V_gene			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267:SF129,hmmpanther:PTHR23267		W/*		A		69/348							YES	TRAV2,stop_gained,p.Trp20Ter,ENST00000390424,;AE000658.31,downstream_gene_variant,,ENST00000542992,;							HIGH	59/338					Transcript			.	ENSP00000438195					1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H060030	H060030N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	30	23	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		53			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
KCNJ1	0	LGGM	GRCh37	11	128709773	128709773	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	39	15	.	.	ENST00000392664.2:c.423C>A	p.Thr141=	p.T141=	ENST00000392664	NM_000220.4	141	acC/acA	0	1	1	UPI000012D891	0		ENST00000392664		ENSG00000151704	6255		54			HGNC	p.T122T		KCNJ1		SNV			1				ENST00000440599	protein_coding			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF6,Gene3D:1.10.287.70,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Prints_domain:PR01320		T		T		540/1674							YES	KCNJ1,synonymous_variant,p.=,ENST00000392665,NM_153764.2;KCNJ1,synonymous_variant,p.=,ENST00000392666,NM_153766.2;KCNJ1,synonymous_variant,p.=,ENST00000324036,NM_153767.3;KCNJ1,synonymous_variant,p.=,ENST00000440599,NM_153765.2;KCNJ1,synonymous_variant,p.=,ENST00000392664,NM_000220.4;KCNJ1,synonymous_variant,p.=,ENST00000324003,;KCNJ1,downstream_gene_variant,,ENST00000531562,;							LOW	423/1176		IRK1_HUMAN			Transcript			.	ENSP00000376432		CCDS8476.1			1	
BRD4	0	LGGM	GRCh37	19	15383903	15383903	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	47	15	.	.	ENST00000263377.2:c.8C>T	p.Ala3Val	p.A3V	ENST00000263377	NM_058243.2	3	gCg/gTg	0	1	1	UPI0000126ACE	0	NA	ENST00000263377		ENSG00000141867	13575		62	-0.55		HGNC	p.A3V		BRD4		SNV							ENST00000263377	protein_coding	getma.org/?cm=var&var=hg19,19,15383903,G,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF143		A/V		A	neutral	230/5852		getma.org/?cm=msa&ty=f&p=BRD4_HUMAN&rb=1&re=49&var=A3V		Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN			YES	BRD4,missense_variant,p.Ala3Val,ENST00000263377,NM_058243.2;BRD4,missense_variant,p.Ala3Val,ENST00000371835,NM_014299.2;BRD4,missense_variant,p.Ala3Val,ENST00000360016,;BRD4,missense_variant,p.Ala3Val,ENST00000594841,;BRD4,missense_variant,p.Ala3Val,ENST00000601941,;BRD4,upstream_gene_variant,,ENST00000601071,;BRD4,missense_variant,p.Ala3Val,ENST00000597315,;							MODERATE	Aug-89	A3V	BRD4_HUMAN			Transcript		unknown(0)	.	ENSP00000263377		CCDS12328.1			1	
RNF150	0	LGGM	GRCh37	4	141870528	141870528	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	35	16	.	.	ENST00000515673.2:c.736-2A>T		p.X246_splice	ENST00000515673				0	1	1	UPI00004C9B0C	0		ENST00000515673		ENSG00000170153	23138		51			HGNC	-		RNF150		SNV							ENST00000379512	protein_coding							A		-/9805				D6RIE5_HUMAN			YES	RNF150,splice_acceptor_variant,,ENST00000515673,;RNF150,splice_acceptor_variant,,ENST00000306799,NM_020724.1;RNF150,splice_acceptor_variant,,ENST00000420921,;RNF150,splice_acceptor_variant,,ENST00000379512,;RNF150,splice_acceptor_variant,,ENST00000507500,;RNF150,splice_acceptor_variant,,ENST00000506101,;RNF150,splice_acceptor_variant,,ENST00000515057,;							HIGH	736/1317		RN150_HUMAN			Transcript			.	ENSP00000425840		CCDS34065.1			1	
FANCA	0	LGGM	GRCh37	16	89882335	89882335	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	38	16	.	.	ENST00000389301.3:c.139G>C	p.Ala47Pro	p.A47P	ENST00000389301	NM_000135.2	47	Gct/Cct	0	1	1	UPI0000520A1A	0	NA	ENST00000389301		ENSG00000187741	3582		54	1.935		HGNC	p.A47P		FANCA		SNV			1				ENST00000563513	protein_coding	getma.org/?cm=var&var=hg19,16,89882335,C,G&fts=all		hmmpanther:PTHR12047		A/P		G	medium	170/5451		getma.org/?cm=msa&ty=f&p=FANCA_HUMAN&rb=6&re=1108&var=A47P	deleterious(0)	H3BT53_HUMAN			YES	FANCA,missense_variant,p.Ala47Pro,ENST00000389301,NM_000135.2;FANCA,missense_variant,p.Ala47Pro,ENST00000568369,NM_001286167.1;FANCA,missense_variant,p.Ala47Pro,ENST00000563673,;FANCA,missense_variant,p.Ala47Pro,ENST00000389302,NM_001018112.1;FANCA,missense_variant,p.Ala47Pro,ENST00000534992,;FANCA,missense_variant,p.Ala47Pro,ENST00000543736,;SPIRE2,upstream_gene_variant,,ENST00000564878,;SPIRE2,upstream_gene_variant,,ENST00000565103,;FANCA,missense_variant,p.Ala18Pro,ENST00000565582,;FANCA,missense_variant,p.Ala47Pro,ENST00000563513,;FANCA,3_prime_UTR_variant,,ENST00000567943,;FANCA,non_coding_transcript_exon_variant,,ENST00000566889,;FANCA,non_coding_transcript_exon_variant,,ENST00000567883,;							MODERATE	139/4368	A47P	FANCA_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000373952		CCDS32515.1			1	
OGN	0	LGGM	GRCh37	9	95148548	95148548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	45	16	.	.	ENST00000262551.4:c.661G>T	p.Asp221Tyr	p.D221Y	ENST00000262551	NM_033014.2	221	Gac/Tac	0	1	1	UPI00000540ED	0	getma.org/pdb.php?prot=MIME_HUMAN&from=180&to=298&var=D221Y	ENST00000262551		ENSG00000106809	8126		61	0.7		HGNC	p.D221Y		OGN		SNV							ENST00000262551	protein_coding	getma.org/?cm=var&var=hg19,9,95148548,C,A&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF5,SMART_domains:SM00369,Superfamily_domains:SSF52058		D/Y		A	neutral	1082/2971		getma.org/?cm=msa&ty=f&p=MIME_HUMAN&rb=180&re=298&var=D221Y	deleterious(0.05)	A8K0R3_HUMAN			YES	OGN,missense_variant,p.Asp221Tyr,ENST00000262551,NM_033014.2;OGN,missense_variant,p.Asp221Tyr,ENST00000375561,NM_014057.3;CENPP,intron_variant,,ENST00000375587,NM_001012267.1;OGN,downstream_gene_variant,,ENST00000447356,;OGN,downstream_gene_variant,,ENST00000468743,;							MODERATE	661/897	D221Y	MIME_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000262551		CCDS6695.1			1	
PIWIL3	0	LGGM	GRCh37	22	25151775	25151775	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	63	16	.	.	ENST00000332271.5:c.668G>A	p.Arg223His	p.R223H	ENST00000332271	NM_001255975.1	223	cGc/cAc	0	1	1	UPI00002073D6	0	NA	ENST00000332271		ENSG00000184571	18443		79	0.95		HGNC	p.R223H		PIWIL3		SNV							ENST00000332271	protein_coding	getma.org/?cm=var&var=hg19,22,25151775,C,T&fts=all		hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Superfamily_domains:SSF101690		R/H		T	low	1085/3504		getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=201&re=291&var=R223H	deleterious(0.02)				YES	PIWIL3,missense_variant,p.Arg223His,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,missense_variant,p.Arg114His,ENST00000533313,;PIWIL3,missense_variant,p.Arg114His,ENST00000527701,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;							MODERATE	668/2649	R223H	PIWL3_HUMAN			Transcript		benign(0.246)	.	ENSP00000330031		CCDS33623.1			1	
AK9	0	LGGM	GRCh37	6	109815292	109815292	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	77	16	.	.	ENST00000424296.2:c.5425G>A	p.Ala1809Thr	p.A1809T	ENST00000424296	NM_001145128.2	1809	Gca/Aca	0	1	1	UPI0001A48FC8	0	NA	ENST00000424296		ENSG00000155085	33814		93	2.395		HGNC	p.A1809T		AK9		SNV							ENST00000424296	protein_coding	getma.org/?cm=var&var=hg19,6,109815292,C,T&fts=all		hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61		A/T		T	medium	5502/6326		getma.org/?cm=msa&ty=f&p=AKD1_HUMAN&rb=1612&re=1811&var=A1809T	deleterious(0)	E9PPU7_HUMAN,E9PPM3_HUMAN			YES	AK9,missense_variant,p.Ala1809Thr,ENST00000424296,NM_001145128.2;AK9,missense_variant,p.Ala647Thr,ENST00000470564,;AK9,missense_variant,p.Ala210Thr,ENST00000490722,;RP5-919F19.5,intron_variant,,ENST00000423747,;							MODERATE	5425/5736	A1809T	KAD9_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000410186		CCDS55048.1			1	
MYCBP2	0	LGGM	GRCh37	13	77655723	77655723	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	40	17	.	.	ENST00000544440.2:c.11143C>T	p.Arg3715Ter	p.R3715*	ENST00000544440		3715	Cga/Tga	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		57	0		HGNC	p.R3753X	COSM3814056,COSM3814057	MYCBP2		SNV						1,1	ENST00000407578	protein_coding	getma.org/?cm=var&var=hg19,13,77655723,G,A&fts=all		Gene3D:2.60.120.260,PROSITE_profiles:PS51284,hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14,Superfamily_domains:SSF49785		R/*		A	NA	11236/14736		NA						MYCBP2,stop_gained,p.Arg3753Ter,ENST00000407578,NM_015057.4;MYCBP2,stop_gained,p.Arg3715Ter,ENST00000357337,;MYCBP2,stop_gained,p.Arg3715Ter,ENST00000544440,;MYCBP2,stop_gained,p.Arg139Ter,ENST00000429715,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000422231,;MYCBP2-AS1,intron_variant,,ENST00000450627,;MYCBP2-AS1,intron_variant,,ENST00000448470,;MYCBP2-AS1,downstream_gene_variant,,ENST00000596342,;MYCBP2-AS2,upstream_gene_variant,,ENST00000428716,;					1,1		HIGH	11143/13923	R3715*	MYCB2_HUMAN			Transcript			.	ENSP00000349892					1	
MUC16	0	LGGM	GRCh37	19	9084960	9084960	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	86	17	.	.	ENST00000397910.4:c.6855T>A	p.Thr2285=	p.T2285=	ENST00000397910	NM_024690.2	2285	acT/acA	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		103			HGNC	p.T2285T		MUC16		SNV							ENST00000397910	protein_coding					T		T		7059/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	6855/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
HNRNPUL2	0	LGGM	GRCh37	11	62490124	62490124	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	36	17	.	.	ENST00000301785.5:c.1044T>G	p.Phe348Leu	p.F348L	ENST00000301785	NM_001079559.2	348	ttT/ttG	0	1	1	UPI0000161949	0	getma.org/pdb.php?prot=HNRL2_HUMAN&from=289&to=418&var=F348L	ENST00000301785		ENSG00000214753	25451		53	2.96		HGNC	p.F348L		HNRNPUL2		SNV							ENST00000301785	protein_coding	getma.org/?cm=var&var=hg19,11,62490124,A,C&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF43,SMART_domains:SM00449,Superfamily_domains:SSF49899		F/L		C	medium	1237/5106		getma.org/?cm=msa&ty=f&p=HNRL2_HUMAN&rb=289&re=418&var=F348L	deleterious(0.03)				YES	HNRNPUL2,missense_variant,p.Phe348Leu,ENST00000301785,NM_001079559.2;HNRNPUL2-BSCL2,missense_variant,p.Phe348Leu,ENST00000403734,;HNRNPUL2,downstream_gene_variant,,ENST00000540127,;							MODERATE	1044/2244	F348L	HNRL2_HUMAN			Transcript		benign(0.203)	.	ENSP00000301785		CCDS41659.1			1	
MUC16	0	LGGM	GRCh37	19	9003354	9003354	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	61	18	.	.	ENST00000397910.4:c.40081C>G	p.Pro13361Ala	p.P13361A	ENST00000397910	NM_024690.2	13361	Ccc/Gcc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13322&to=13432&var=P13363A	ENST00000397910		ENSG00000181143	15582		79	2.28		HGNC	p.P2A		MUC16		SNV							ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,9003354,G,C&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		P/A		C	medium	40285/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13322&re=13432&var=P13363A		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Pro13361Ala,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Pro201Ala,ENST00000599436,;MUC16,missense_variant,p.Pro2Ala,ENST00000380951,;MUC16,missense_variant,p.Pro201Ala,ENST00000601404,;MUC16,upstream_gene_variant,,ENST00000596768,;							MODERATE	40081/43524	P13363A				Transcript		probably_damaging(0.987)	.	ENSP00000381008		CCDS54212.1			1	
ANKK1	0	LGGM	GRCh37	11	113264202	113264202	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	68	21	.	.	ENST00000303941.3:c.186-1G>T		p.X62_splice	ENST00000303941	NM_178510.1			0	1	1	UPI000000DCCF	0		ENST00000303941		ENSG00000170209	21027		89			HGNC	-		ANKK1		SNV							ENST00000303941	protein_coding							T		-/2543							YES	ANKK1,splice_acceptor_variant,,ENST00000303941,NM_178510.1;ANKK1,upstream_gene_variant,,ENST00000542948,;							HIGH	186/2298		ANKK1_HUMAN			Transcript			.	ENSP00000306678		CCDS44734.1			1	
CCDC129	0	LGGM	GRCh37	7	31683417	31683417	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	88	23	.	.	ENST00000451887.2:c.2511C>A	p.His837Gln	p.H837Q	ENST00000451887	NM_001257968.1	837	caC/caA	0	1		UPI00015A2549	0	NA	ENST00000407970		ENSG00000180347	27363		111	1.78		HGNC	p.H837Q		CCDC129		SNV							ENST00000451887	protein_coding	getma.org/?cm=var&var=hg19,7,31683417,C,A&fts=all		Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12,Low_complexity_(Seg):seg		H/Q		A	low	2471/3269		getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=H811Q	tolerated(0.06)	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN				CCDC129,missense_variant,p.His663Gln,ENST00000319386,;CCDC129,missense_variant,p.His719Gln,ENST00000409210,;CCDC129,missense_variant,p.His837Gln,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.His811Gln,ENST00000407970,NM_194300.3,NM_001257967.1;							MODERATE	2433/3135	H811Q	CC129_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000384416		CCDS5435.2			1	
NBPF10	0	LGGM	GRCh37	1	145304474	145304474	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	276	23	.	.	ENST00000342960.5:c.1407A>C	p.Glu469Asp	p.E469D	ENST00000342960	NM_001039703.5	469	gaA/gaC	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		299	2.12		HGNC	p.E198D		NBPF10		SNV							ENST00000369338	protein_coding	getma.org/?cm=var&var=hg19,1,145304474,A,C&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		E/D		C	medium	1442/10697		getma.org/?cm=msa&ty=f&p=H7BY67_HUMAN&rb=201&re=340&var=E211D		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Glu469Asp,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Glu198Asp,ENST00000369339,;NBPF10,missense_variant,p.Glu198Asp,ENST00000369338,;NBPF10,missense_variant,p.Glu135Asp,ENST00000605176,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,missense_variant,p.Glu469Asp,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;							MODERATE	1407/10662	E211D				Transcript		probably_damaging(0.932)	.	ENSP00000345684					1	
TTC38	0	LGGM	GRCh37	22	46674550	46674550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060030	H060030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	69	23	.	.	ENST00000381031.3:c.607G>T	p.Ala203Ser	p.A203S	ENST00000381031	NM_017931.2	203	Gcc/Tcc	0	1	1	UPI0000470C96	0	NA	ENST00000381031		ENSG00000075234	26082		92	2.39		HGNC	p.A203S	rs745825694	TTC38	6.06E-05	SNV							ENST00000421359	protein_coding	getma.org/?cm=var&var=hg19,22,46674550,G,T&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR16263,hmmpanther:PTHR16263:SF4,Superfamily_domains:SSF48452		A/S		T	medium	683/2610		getma.org/?cm=msa&ty=f&p=TTC38_HUMAN&rb=180&re=213&var=A203S	deleterious(0.03)				YES	TTC38,missense_variant,p.Ala203Ser,ENST00000381031,NM_017931.2;TTC38,missense_variant,p.Ala145Ser,ENST00000445282,;TTC38,missense_variant,p.Ala203Ser,ENST00000421359,;TTC38,missense_variant,p.Ala154Ser,ENST00000422713,;TTC38,downstream_gene_variant,,ENST00000417709,;							MODERATE	607/1410	A203S	TTC38_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000370419	8.27E-06	CCDS43030.1			1	
LYST	0	LGGM	GRCh37	1	235993619	235993619	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	30	24	.	.	ENST00000389794.3:c.99A>G	p.Glu33=	p.E33=	ENST00000389794		33	gaA/gaG	0	1		UPI000020509E	0		ENST00000389793		ENSG00000143669	1968		54			HGNC	p.E33E		LYST		SNV			1				ENST00000389794	protein_coding			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,Low_complexity_(Seg):seg		E		C		274/13471								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,;							LOW	99/11406		LYST_HUMAN			Transcript			.	ENSP00000374443		CCDS31062.1			1	
OR4K2	0	LGGM	GRCh37	14	20344656	20344656	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	289	25	.	.	ENST00000298642.2:c.230C>G	p.Ala77Gly	p.A77G	ENST00000298642	NM_001005501.1	77	gCc/gGc	0	1	1	UPI0000041B4D	0	getma.org/pdb.php?prot=OR4K2_HUMAN&from=1&to=138&var=A77G	ENST00000298642		ENSG00000165762	14728		314	1.615		HGNC	p.A77G		OR4K2		SNV							ENST00000298642	protein_coding	getma.org/?cm=var&var=hg19,14,20344656,C,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		A/G		G	low	266/1078		getma.org/?cm=msa&ty=f&p=OR4K2_HUMAN&rb=1&re=138&var=A77G	deleterious(0.01)				YES	OR4K2,missense_variant,p.Ala77Gly,ENST00000298642,NM_001005501.1;							MODERATE	230/945	A77G	OR4K2_HUMAN			Transcript		benign(0.102)	.	ENSP00000298642		CCDS32023.1			1	
WDR52	0	LGGM	GRCh37	3	113125890	113125890	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060030	H060030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	68	27	.	.	ENST00000393845.2:c.891-2A>G		p.X297_splice	ENST00000393845	NM_001164496.1			0	1		UPI000006D67B	0		ENST00000295868		ENSG00000206530	25631		95			HGNC	-		WDR52		SNV							ENST00000393845	protein_coding							C		-/3377				C9K0A4_HUMAN				WDR52,splice_acceptor_variant,,ENST00000393845,NM_001164496.1;WDR52,splice_acceptor_variant,,ENST00000295868,NM_018338.3;WDR52-AS1,intron_variant,,ENST00000498480,;WDR52-AS1,intron_variant,,ENST00000473329,;WDR52,splice_acceptor_variant,,ENST00000488854,;WDR52,splice_acceptor_variant,,ENST00000489938,;WDR52,upstream_gene_variant,,ENST00000465186,;							HIGH	891/2949		WDR52_HUMAN			Transcript			.	ENSP00000295868		CCDS2972.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144904735	144904735	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	140	32	.	.	ENST00000369356.4:c.2577G>A	p.Leu859=	p.L859=	ENST00000369356	NM_014644.5	859	ttG/ttA	0	1		UPI0000251FAA	0		ENST00000369354		ENSG00000178104	15580		172			HGNC	p.L996L		PDE4DIP		SNV							ENST00000530740	protein_coding			hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2		L		T		2767/8262				I1VE15_HUMAN				PDE4DIP,splice_region_variant,p.=,ENST00000529945,;PDE4DIP,splice_region_variant,p.=,ENST00000369359,;PDE4DIP,splice_region_variant,p.=,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,splice_region_variant,p.=,ENST00000530740,;PDE4DIP,splice_region_variant,p.=,ENST00000369354,;PDE4DIP,splice_region_variant,p.=,ENST00000313382,NM_001198832.2;PDE4DIP,splice_region_variant,p.=,ENST00000313431,NM_001002811.2;PDE4DIP,splice_region_variant,p.=,ENST00000369351,;PDE4DIP,splice_region_variant,p.=,ENST00000369349,NM_001002812.2;PDE4DIP,splice_region_variant,p.=,ENST00000479408,;PDE4DIP,upstream_gene_variant,,ENST00000491426,;PDE4DIP,intron_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000467859,;PDE4DIP,intron_variant,,ENST00000533963,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,upstream_gene_variant,,ENST00000530062,;							LOW	2577/7041		MYOME_HUMAN			Transcript			.	ENSP00000358360		CCDS30824.1			1	
CSMD3	0	LGGM	GRCh37	8	113246612	113246612	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060030	H060030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	61	34	.	.	ENST00000297405.5:c.10722T>G	p.Asn3574Lys	p.N3574K	ENST00000297405	NM_198123.1	3574	aaT/aaG	0	1	1	UPI00001E0584	0	NA	ENST00000297405		ENSG00000164796	19291		95	0.06		HGNC	p.N3405K		CSMD3		SNV							ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113246612,A,C&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44		N/K		C	neutral	10967/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=3514&re=3705&var=N3574K	tolerated(0.6)				YES	CSMD3,missense_variant,p.Asn3574Lys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Asn3534Lys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Asn3504Lys,ENST00000352409,;CSMD3,missense_variant,p.Asn3405Lys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Asn2844Lys,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;							MODERATE	10722/11124	N3574K	CSMD3_HUMAN			Transcript		benign(0)	.	ENSP00000297405		CCDS6315.1			1	
S100PBP	0	LGGM	GRCh37	1	33321629	33321629	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060030	H060030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060030N.bam, H060030T.bam	Illumina HiSeq	69	42	.	.	ENST00000373475.5:c.1217C>T	p.Ser406Leu	p.S406L	ENST00000373475	NM_022753.3	406	tCg/tTg	0	1	1	UPI0000070449	0	NA	ENST00000373475		ENSG00000116497	25768		111	0.69		HGNC	p.S406L		S100PBP		SNV							ENST00000373475	protein_coding	getma.org/?cm=var&var=hg19,1,33321629,C,T&fts=all		hmmpanther:PTHR14455:SF0,hmmpanther:PTHR14455		S/L		T	neutral	1471/4318		getma.org/?cm=msa&ty=f&p=S1PBP_HUMAN&rb=256&re=406&var=S406L	tolerated_low_confidence(0.08)	E9PSA0_HUMAN,E9PMK1_HUMAN,E9PL86_HUMAN,E9PIZ7_HUMAN,E9PIY5_HUMAN			YES	S100PBP,missense_variant,p.Ser406Leu,ENST00000373475,NM_022753.3;S100PBP,missense_variant,p.Ser406Leu,ENST00000373476,NM_001256121.1;S100PBP,non_coding_transcript_exon_variant,,ENST00000527692,;S100PBP,downstream_gene_variant,,ENST00000524535,;S100PBP,downstream_gene_variant,,ENST00000525203,;S100PBP,non_coding_transcript_exon_variant,,ENST00000475486,;							MODERATE	1217/1227	S406L	S1PBP_HUMAN			Transcript		benign(0.176)	.	ENSP00000362574		CCDS30666.1			1	
ARSD	0	LGGM	GRCh37	X	2835985	2835986	+	frameshift_variant	Frame_Shift_Del	DEL	GA	GA	-	novel	by Submitter	H060098	H060098N.bam	GA	GA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	4	2	.	.	ENST00000381154.1:c.722_723del	p.Phe241TyrfsTer22	p.F241Yfs*22	ENST00000381154	NM_001669.3	241	tTC/t	0	1	1	UPI0000070902	0		ENST00000381154		ENSG00000006756	717		6			HGNC	p.241_241del	rs759462760	ARSD		deletion							ENST00000381154	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF53649,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF200		F/X		-		798-799/5159							YES	ARSD,frameshift_variant,p.Phe241TyrfsTer22,ENST00000381154,NM_001669.3;ARSD,non_coding_transcript_exon_variant,,ENST00000217890,;ARSD,intron_variant,,ENST00000495294,;ARSD,upstream_gene_variant,,ENST00000481340,;ARSD,downstream_gene_variant,,ENST00000494870,;ARSD,downstream_gene_variant,,ENST00000559324,;							HIGH	722-723/1782		ARSD_HUMAN			Transcript			common_variant	ENSP00000370546	0.00128	CCDS35196.1			1	
HAUS5	0	LGGM	GRCh37	19	36109933	36109933	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	9	2	.	.	ENST00000203166.5:c.1161G>A	p.Leu387=	p.L387=	ENST00000203166	NM_015302.1	387	ctG/ctA	0	1	1	UPI0000169F45	0		ENST00000203166		ENSG00000249115	29130		11			HGNC	p.L387L	rs761714827	HAUS5	0.000151	SNV							ENST00000203166	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14817		L		A		1186/4283							YES	HAUS5,synonymous_variant,p.=,ENST00000203166,NM_015302.1;HAUS5,3_prime_UTR_variant,,ENST00000379045,;HAUS5,upstream_gene_variant,,ENST00000590994,;HAUS5,3_prime_UTR_variant,,ENST00000424522,;HAUS5,3_prime_UTR_variant,,ENST00000587439,;HAUS5,non_coding_transcript_exon_variant,,ENST00000428854,;HAUS5,non_coding_transcript_exon_variant,,ENST00000585968,;HAUS5,downstream_gene_variant,,ENST00000588570,;HAUS5,downstream_gene_variant,,ENST00000592291,;HAUS5,upstream_gene_variant,,ENST00000430749,;							LOW	1161/1902		HAUS5_HUMAN			Transcript			.	ENSP00000439056	1.65E-05	CCDS42550.1			1	
SLIT3	0	LGGM	GRCh37	5	168151444	168151444	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	11	2	.	.	ENST00000519560.1:c.2316C>A	p.Ser772=	p.S772=	ENST00000519560	NM_003062.3	772	tcC/tcA	0	1	1	UPI00001B0229	0		ENST00000519560		ENSG00000184347	11087		13			HGNC	p.S772S		SLIT3		SNV							ENST00000332966	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		S		T		2736/9706							YES	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,;							LOW	2316/4572		SLIT3_HUMAN			Transcript			.	ENSP00000430333		CCDS4369.1			1	
CLDN3	0	LGGM	GRCh37	7	73183798	73183798	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	3	3	.	.	ENST00000395145.2:c.582C>T	p.Thr194=	p.T194=	ENST00000395145	NM_001306.3	194	acC/acT	0	1	1	UPI0000044942	0		ENST00000395145		ENSG00000165215	2045		6			HGNC	p.T194T		CLDN3		SNV							ENST00000395145	protein_coding			Prints_domain:PR01378,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF90		T		A		803/1273				Q75L79_HUMAN			YES	CLDN3,synonymous_variant,p.=,ENST00000395145,NM_001306.3;							LOW	582/663		CLD3_HUMAN			Transcript			.	ENSP00000378577		CCDS5559.1			1	
ARID1A	0	LGGM	GRCh37	1	27023560	27023560	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	3	3	.	.	ENST00000324856.7:c.666C>A	p.Tyr222Ter	p.Y222*	ENST00000324856	NM_006015.4	222	taC/taA	0	1	1	UPI0000167B91	0	NA	ENST00000324856		ENSG00000117713	11110		6	0		HGNC	p.Y222X		ARID1A		SNV			1				ENST00000457599	protein_coding	getma.org/?cm=var&var=hg19,1,27023560,C,A&fts=all		Low_complexity_(Seg):seg		Y/*		A	NA	1037/8577		NA		Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,stop_gained,p.Tyr222Ter,ENST00000324856,NM_006015.4;ARID1A,stop_gained,p.Tyr222Ter,ENST00000457599,NM_139135.2;RP5-968P14.2,upstream_gene_variant,,ENST00000569378,;							HIGH	666/6858	Y222*	ARI1A_HUMAN			Transcript			.	ENSP00000320485		CCDS285.1			1	
ZNF658	0	LGGM	GRCh37	9	40774830	40774830	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	19	3	.	.	ENST00000602553.1:c.445G>A	p.Ala149Thr	p.A149T	ENST00000602553		149	Gct/Act	0	1	1	UPI000046D388	0	NA	ENST00000602553		ENSG00000196409	25226		22	-0.28		HGNC	p.A147T		ZNF658		SNV							ENST00000441795	protein_coding	getma.org/?cm=var&var=hg19,9,40774830,C,T&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256		A/T		T	neutral	740/4155		getma.org/?cm=msa&ty=f&p=ZN658_HUMAN&rb=49&re=248&var=A149T	tolerated(0.36)	B3KNB1_HUMAN			YES	ZNF658,missense_variant,p.Ala149Thr,ENST00000602553,;ZNF658,missense_variant,p.Ala149Thr,ENST00000377626,NM_033160.5;ZNF658,missense_variant,p.Ala147Thr,ENST00000441795,;ZNF658,missense_variant,p.Ala149Thr,ENST00000479710,;							MODERATE	445/3180	A149T	ZN658_HUMAN			Transcript		benign(0)	.	ENSP00000473484		CCDS35023.1			1	
PTPN5	0	LGGM	GRCh37	11	18759475	18759475	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	29	3	.	.	ENST00000358540.2:c.952G>A	p.Asp318Asn	p.D318N	ENST00000358540	NM_006906.1	318	Gac/Aac	0	1	1	UPI00001AE663	0	getma.org/pdb.php?prot=PTN5_HUMAN&from=300&to=555&var=D318N	ENST00000358540		ENSG00000110786	9657		32	0.715		HGNC	p.D318N	rs776329248	PTPN5	6.06E-05	SNV							ENST00000358540	protein_coding	getma.org/?cm=var&var=hg19,11,18759475,C,T&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799		D/N		T	neutral	1383/3135		getma.org/?cm=msa&ty=f&p=PTN5_HUMAN&rb=300&re=555&var=D318N	tolerated(0.13)	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN			YES	PTPN5,missense_variant,p.Asp286Asn,ENST00000396170,NM_001278236.1;PTPN5,missense_variant,p.Asp318Asn,ENST00000358540,NM_006906.1;PTPN5,missense_variant,p.Asp318Asn,ENST00000396171,NM_032781.3;PTPN5,missense_variant,p.Asp286Asn,ENST00000396167,NM_001278239.1,NM_001039970.1;PTPN5,missense_variant,p.Asp122Asn,ENST00000477854,;PTPN5,missense_variant,p.Asp294Asn,ENST00000396168,NM_001278238.1;RP11-1081L13.4,intron_variant,,ENST00000527285,;PTPN5,downstream_gene_variant,,ENST00000496201,;							MODERATE	952/1698	D318N	PTN5_HUMAN			Transcript		benign(0.003)	.	ENSP00000351342	8.24E-06	CCDS7845.1			1	
NTNG1	0	LGGM	GRCh37	1	107867200	107867200	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	40	3	.	.	ENST00000370068.1:c.543C>A	p.Asp181Glu	p.D181E	ENST00000370068		181	gaC/gaA	0	1	1	UPI0000458A3E	0	getma.org/pdb.php?prot=NTNG1_HUMAN&from=50&to=295&var=D181E	ENST00000370068		ENSG00000162631	23319		43	1.455		HGNC	p.D181E		NTNG1		SNV			1				ENST00000370073	protein_coding	getma.org/?cm=var&var=hg19,1,107867200,C,A&fts=all		Gene3D:2.60.120.260,Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00136		D/E		A	low	1389/4034		getma.org/?cm=msa&ty=f&p=NTNG1_HUMAN&rb=50&re=295&var=D181E	deleterious(0.02)	Q5IEC8_HUMAN			YES	NTNG1,missense_variant,p.Asp181Glu,ENST00000370067,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370068,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Asp181Glu,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Asp181Glu,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Asp181Glu,ENST00000542803,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370061,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370072,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370070,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370065,;NTNG1,missense_variant,p.Asp181Glu,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;							MODERATE	543/1620	D181E	NTNG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359085		CCDS44180.1			1	
IQGAP3	0	LGGM	GRCh37	1	156531790	156531790	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	21	3	.	.	ENST00000361170.2:c.881A>G	p.His294Arg	p.H294R	ENST00000361170	NM_178229.4	294	cAt/cGt	0	1	1	UPI000046FFDD	0	NA	ENST00000361170		ENSG00000183856	20669		24	1.43		HGNC	p.H294R		IQGAP3		SNV							ENST00000361170	protein_coding	getma.org/?cm=var&var=hg19,1,156531790,T,C&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10		H/R		C	low	892/5988		getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=150&re=349&var=H294R	tolerated(0.28)	F2Z2E2_HUMAN			YES	IQGAP3,missense_variant,p.His294Arg,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.His251Arg,ENST00000491900,;							MODERATE	881/4896	H294R	IQGA3_HUMAN			Transcript		benign(0.001)	.	ENSP00000354451		CCDS1144.1			1	
OR2J1	0	LGGM	GRCh37	6	29069256	29069256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	36	3	.	.	ENST00000377171.3:c.537C>A	p.Phe179Leu	p.F179L	ENST00000377171		179	ttC/ttA	0	1	1	UPI000004186E	0		ENST00000377171		ENSG00000204702	8259		39			HGNC	p.F179L		OR2J1		SNV							ENST00000377171	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF184,Superfamily_domains:SSF81321		F/L		A		871/1273			tolerated(0.57)				YES	OR2J1,missense_variant,p.Phe179Leu,ENST00000377171,;							MODERATE	537/939		OR2J1_HUMAN			Transcript		benign(0.009)	.	ENSP00000366376					1	
RFPL3	0	LGGM	GRCh37	22	32754207	32754207	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	65	4	.	.	ENST00000249007.4:c.149C>G	p.Pro50Arg	p.P50R	ENST00000249007	NM_001098535.1	50	cCa/cGa	0	1	1	UPI000013CC68	0	getma.org/pdb.php?prot=RFPL3_HUMAN&from=28&to=64&var=P50R	ENST00000249007		ENSG00000128276	9980	0.00216	69	4.27		HGNC	p.P50R	rs760552303	RFPL3		SNV							ENST00000249007	protein_coding	getma.org/?cm=var&var=hg19,22,32754207,C,G&fts=all		Superfamily_domains:SSF57850,Gene3D:3.30.40.10,Pfam_domain:PF15227,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,PROSITE_profiles:PS50089		P/R		G	high	354/1488		getma.org/?cm=msa&ty=f&p=RFPL3_HUMAN&rb=28&re=64&var=P50R	deleterious(0)				YES	RFPL3,missense_variant,p.Pro50Arg,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Pro21Arg,ENST00000397468,NM_006604.2;RFPL3,missense_variant,p.Pro21Arg,ENST00000382088,;RFPL3S,downstream_gene_variant,,ENST00000400234,;RFPL3S,downstream_gene_variant,,ENST00000382084,;RFPL3S,downstream_gene_variant,,ENST00000577714,;RFPL3S,downstream_gene_variant,,ENST00000382086,;RFPL3S,downstream_gene_variant,,ENST00000461833,;IGLCOR22-2,upstream_gene_variant,,ENST00000605398,;							MODERATE	149/954	P50R	RFPL3_HUMAN			Transcript		probably_damaging(1)	common_variant	ENSP00000249007	0.000206	CCDS43011.1			1	
KIRREL	0	LGGM	GRCh37	1	158047801	158047801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	35	4	.	.	ENST00000359209.6:c.223G>T	p.Val75Leu	p.V75L	ENST00000359209		75	Gtg/Ttg	0	1	1	UPI0000443FBD	0	getma.org/pdb.php?prot=KIRR1_HUMAN&from=21&to=118&var=V75L	ENST00000359209		ENSG00000183853	15734		39	0.38		HGNC	p.V75L		KIRREL		SNV							ENST00000359209	protein_coding	getma.org/?cm=var&var=hg19,1,158047801,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/L		T	neutral	290/2874		getma.org/?cm=msa&ty=f&p=KIRR1_HUMAN&rb=21&re=118&var=V75L	tolerated(0.43)				YES	KIRREL,missense_variant,p.Val75Leu,ENST00000368173,NM_018240.5;KIRREL,missense_variant,p.Val14Leu,ENST00000360089,;KIRREL,missense_variant,p.Val75Leu,ENST00000392272,;KIRREL,missense_variant,p.Val75Leu,ENST00000359209,;KIRREL,intron_variant,,ENST00000416935,;							MODERATE	223/2274	V75L	KIRR1_HUMAN			Transcript		benign(0.01)	.	ENSP00000352138		CCDS1172.2			1	
REG1A	0	LGGM	GRCh37	2	79350044	79350044	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	43	4	.	.	ENST00000233735.1:c.399T>C	p.Asn133=	p.N133=	ENST00000233735	NM_002909.4	133	aaT/aaC	0	1	1	UPI000012E72D	0		ENST00000233735		ENSG00000115386	9951		47			HGNC	p.N133N		REG1A		SNV							ENST00000233735	protein_coding			PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF25,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436		N		C		502/808				Q2TBE1_HUMAN			YES	REG1A,synonymous_variant,p.=,ENST00000233735,NM_002909.4;REG1A,non_coding_transcript_exon_variant,,ENST00000485184,;REG1A,downstream_gene_variant,,ENST00000488524,;REG1A,downstream_gene_variant,,ENST00000461579,;							LOW	399/501		REG1A_HUMAN			Transcript			.	ENSP00000233735		CCDS1964.1			1	
DNAJC1	0	LGGM	GRCh37	10	22048291	22048291	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	37	4	.	.	ENST00000376980.3:c.1404G>A	p.Gln468=	p.Q468=	ENST00000376980	NM_022365.3	468	caG/caA	0	1	1	UPI0000049FEF	0		ENST00000376980		ENSG00000136770	20090		41			HGNC	p.Q468Q		DNAJC1		SNV							ENST00000376980	protein_coding			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF130		Q		T		1695/2106				Q96NY3_HUMAN			YES	DNAJC1,synonymous_variant,p.=,ENST00000376980,NM_022365.3;DNAJC1,downstream_gene_variant,,ENST00000483085,;							LOW	1404/1665		DNJC1_HUMAN			Transcript			.	ENSP00000366179		CCDS7136.1			1	
ARID1B	0	LGGM	GRCh37	6	157502271	157502271	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	35	5	.	.	ENST00000346085.5:c.3304C>T	p.Arg1102Ter	p.R1102*	ENST00000346085	NM_020732.3	1102	Cga/Tga	0	1		UPI000058E2EA	0	NA	ENST00000350026	pathogenic	ENSG00000049618	18040		40	0		HGNC	p.R1142X	rs387907141	ARID1B		SNV			1			1	ENST00000367148	protein_coding	getma.org/?cm=var&var=hg19,6,157502271,C,T&fts=all		Superfamily_domains:SSF46774,SMART_domains:SM00501,SMART_domains:SM01014,Gene3D:1.10.150.60,Pfam_domain:PF01388,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF11,PROSITE_profiles:PS51011		R/*		T	NA	3266/7971		NA						ARID1B,stop_gained,p.Arg1102Ter,ENST00000346085,NM_020732.3;ARID1B,stop_gained,p.Arg1142Ter,ENST00000367148,;ARID1B,stop_gained,p.Arg1084Ter,ENST00000275248,;ARID1B,stop_gained,p.Arg1089Ter,ENST00000350026,NM_017519.2;ARID1B,stop_gained,p.Arg611Ter,ENST00000414678,;ARID1B,stop_gained,p.Arg156Ter,ENST00000400790,;ARID1B,stop_gained,p.Arg564Ter,ENST00000319584,;ARID1B,non_coding_transcript_exon_variant,,ENST00000478761,;							HIGH	3265/6711	R1089*	ARI1B_HUMAN			Transcript			.	ENSP00000055163		CCDS5251.2			1	
HIST1H2AB	0	LGGM	GRCh37	6	26033654	26033654	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	67	5	.	.	ENST00000259791.2:c.143C>G	p.Ala48Gly	p.A48G	ENST00000259791	NM_003513.2	48	gCg/gGg	0	1	1	UPI00000007AF	0		ENST00000259791		ENSG00000137259	4734		72			HGNC	p.A48G		HIST1H2AB		SNV							ENST00000259791	protein_coding			Prints_domain:PR00620,Superfamily_domains:SSF47113,SMART_domains:SM00414,Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24		A/G		C		143/477			deleterious_low_confidence(0.01)	Q08AJ9_HUMAN			YES	HIST1H2AB,missense_variant,p.Ala48Gly,ENST00000259791,NM_003513.2;HIST1H3B,upstream_gene_variant,,ENST00000244661,NM_003537.3;							MODERATE	143/393		H2A1B_HUMAN			Transcript		possibly_damaging(0.496)	.	ENSP00000259791		CCDS4574.1			1	
HIST1H2AB	0	LGGM	GRCh37	6	26033655	26033655	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	67	5	.	.	ENST00000259791.2:c.142G>A	p.Ala48Thr	p.A48T	ENST00000259791	NM_003513.2	48	Gcg/Acg	0	1	1	UPI00000007AF	0		ENST00000259791		ENSG00000137259	4734		72			HGNC	p.A48T		HIST1H2AB		SNV							ENST00000259791	protein_coding			Prints_domain:PR00620,Superfamily_domains:SSF47113,SMART_domains:SM00414,Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24		A/T		T		142/477			deleterious_low_confidence(0.02)	Q08AJ9_HUMAN			YES	HIST1H2AB,missense_variant,p.Ala48Thr,ENST00000259791,NM_003513.2;HIST1H3B,upstream_gene_variant,,ENST00000244661,NM_003537.3;							MODERATE	142/393		H2A1B_HUMAN			Transcript		benign(0.04)	.	ENSP00000259791		CCDS4574.1			1	
DAO	0	LGGM	GRCh37	12	109288114	109288114	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	5	5	.	.	ENST00000228476.3:c.583C>T	p.Leu195=	p.L195=	ENST00000228476	NM_001917.4	195	Ctg/Ttg	0	1	1	UPI0000130F5F	0		ENST00000228476		ENSG00000110887	2671		10			HGNC	p.L129L		DAO		SNV			1				ENST00000551281	protein_coding			Gene3D:3.30.9.10,Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971,Superfamily_domains:SSF54373		L		T		787/1756				Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN			YES	DAO,synonymous_variant,p.=,ENST00000228476,NM_001917.4;DAO,synonymous_variant,p.=,ENST00000551281,;DAO,synonymous_variant,p.=,ENST00000547768,;DAO,synonymous_variant,p.=,ENST00000547166,;DAO,3_prime_UTR_variant,,ENST00000549215,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,upstream_gene_variant,,ENST00000546552,;							LOW	583/1044		OXDA_HUMAN			Transcript			.	ENSP00000228476		CCDS9122.1			1	
BZW1	0	LGGM	GRCh37	2	201683031	201683031	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	81	5	.	.	ENST00000452790.2:c.830T>G	p.Val277Gly	p.V277G	ENST00000452790	NM_001207068.1	277	gTt/gGt	0	1		UPI0000029986	0	NA	ENST00000409600		ENSG00000082153	18380		86	1.245		HGNC	p.V245G		BZW1		SNV							ENST00000410110	protein_coding	getma.org/?cm=var&var=hg19,2,201683031,T,G&fts=all		hmmpanther:PTHR14208:SF0,hmmpanther:PTHR14208		V/G		G	low	1189/3383		getma.org/?cm=msa&ty=f&p=BZW1_HUMAN&rb=201&re=334&var=V245G	tolerated(0.34)	Q3LIC9_HUMAN,D3DN77_HUMAN,C9JWF5_HUMAN,C9JFN4_HUMAN,C9J188_HUMAN,C9IZ80_HUMAN				BZW1,missense_variant,p.Val245Gly,ENST00000409600,NM_014670.3,NM_001207067.1;BZW1,missense_variant,p.Val249Gly,ENST00000409226,NM_001207069.1;BZW1,missense_variant,p.Val277Gly,ENST00000452790,NM_001207068.1;BZW1,missense_variant,p.Val245Gly,ENST00000410110,;BZW1,downstream_gene_variant,,ENST00000452206,;BZW1,upstream_gene_variant,,ENST00000359893,;BZW1,downstream_gene_variant,,ENST00000450637,;BZW1,downstream_gene_variant,,ENST00000447069,;BZW1,downstream_gene_variant,,ENST00000419090,;BZW1,non_coding_transcript_exon_variant,,ENST00000463310,;BZW1,non_coding_transcript_exon_variant,,ENST00000491576,;BZW1,downstream_gene_variant,,ENST00000464483,;BZW1,downstream_gene_variant,,ENST00000460660,;							MODERATE	734/1260	V245G	BZW1_HUMAN			Transcript		benign(0.036)	.	ENSP00000386474		CCDS56156.1			1	
SNX6	0	LGGM	GRCh37	14	35055456	35055456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	20	5	.	.	ENST00000362031.4:c.810G>T	p.Gln270His	p.Q270H	ENST00000362031	NM_152233.2	270	caG/caT	0	1	1	UPI00006AB832	0	NA	ENST00000362031		ENSG00000129515	14970		25	1.32		HGNC	p.Q270H		SNX6		SNV							ENST00000362031	protein_coding	getma.org/?cm=var&var=hg19,14,35055456,C,A&fts=all		hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF120,Pfam_domain:PF09325,PIRSF_domain:PIRSF036924,Superfamily_domains:SSF103657		Q/H		A	low	841/2001		getma.org/?cm=msa&ty=f&p=SNX6_HUMAN&rb=184&re=400&var=Q258H	tolerated(0.11)	Q5QTQ6_HUMAN			YES	SNX6,missense_variant,p.Gln142His,ENST00000396526,;SNX6,missense_variant,p.Gln142His,ENST00000396534,NM_021249.3;SNX6,missense_variant,p.Gln270His,ENST00000362031,NM_152233.2;SNX6,missense_variant,p.Gln146His,ENST00000355110,;SNX6,missense_variant,p.Gln233His,ENST00000557265,;SNX6,3_prime_UTR_variant,,ENST00000556162,;SNX6,3_prime_UTR_variant,,ENST00000555416,;SNX6,3_prime_UTR_variant,,ENST00000556712,;SNX6,non_coding_transcript_exon_variant,,ENST00000555541,;							MODERATE	810/1257	Q258H				Transcript		possibly_damaging(0.502)	.	ENSP00000355217		CCDS41942.1			1	
TP53	0	LGGM	GRCh37	17	7577550	7577550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	4	5	.	.	ENST00000269305.4:c.731G>A	p.Gly244Asp	p.G244D	ENST00000269305	NM_001126112.2	244	gGc/gAc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G244D	ENST00000269305		ENSG00000141510	11998		9	3.145		HGNC	p.G244D	TP53_g.13368G>A,COSM10883,COSM179809,COSM179808,COSM3717641,COSM1646854,COSM179810	TP53		SNV			1			0,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577550,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		G/D		T	medium	921/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G244D	deleterious(0)	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			YES	TP53,missense_variant,p.Gly244Asp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly244Asp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly244Asp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly244Asp,ENST00000445888,;TP53,missense_variant,p.Gly244Asp,ENST00000359597,;TP53,missense_variant,p.Gly244Asp,ENST00000413465,;TP53,missense_variant,p.Gly112Asp,ENST00000509690,;TP53,missense_variant,p.Gly151Asp,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,;					0,1,1,1,1,1,1		MODERATE	731/1182	G244D	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
SLC27A4	0	LGGM	GRCh37	9	131107630	131107630	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	17	6	.	.	ENST00000300456.4:c.358G>T	p.Ala120Ser	p.A120S	ENST00000300456	NM_005094.3	120	Gcc/Tcc	0	1	1	UPI0000038E80	0	getma.org/pdb.php?prot=S27A4_HUMAN&from=103&to=536&var=A120S	ENST00000300456		ENSG00000167114	10998		23	0.335		HGNC	p.A120S		SLC27A4		SNV			1				ENST00000300456	protein_coding	getma.org/?cm=var&var=hg19,9,131107630,G,T&fts=all		hmmpanther:PTHR24096:SF145,hmmpanther:PTHR24096,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801		A/S		T	neutral	475/3028		getma.org/?cm=msa&ty=f&p=S27A4_HUMAN&rb=103&re=536&var=A120S	tolerated(0.71)				YES	SLC27A4,missense_variant,p.Ala120Ser,ENST00000300456,NM_005094.3;SLC27A4,intron_variant,,ENST00000372870,;TMSB4XP4,downstream_gene_variant,,ENST00000323496,;							MODERATE	358/1932	A120S	S27A4_HUMAN			Transcript		benign(0.035)	.	ENSP00000300456		CCDS6899.1			1	
RYR3	0	LGGM	GRCh37	15	33954695	33954695	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	60	6	.	.	ENST00000389232.4:c.4964T>A	p.Val1655Glu	p.V1655E	ENST00000389232	NM_001036.3	1655	gTg/gAg	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		66	2.39		HGNC	p.V1655E		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33954695,T,A&fts=all		hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		V/E		A	medium	5034/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=1466&re=1665&var=V1655E					YES	RYR3,missense_variant,p.Val1655Glu,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Val1655Glu,ENST00000415757,NM_001243996.1;							MODERATE	4964/14613	V1655E	RYR3_HUMAN			Transcript		benign(0.313)	.	ENSP00000373884		CCDS45210.1			1	
SLC27A4	0	LGGM	GRCh37	9	131107629	131107629	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	17	6	.	.	ENST00000300456.4:c.357G>A	p.Gln119=	p.Q119=	ENST00000300456	NM_005094.3	119	caG/caA	0	1	1	UPI0000038E80	0		ENST00000300456		ENSG00000167114	10998		23			HGNC	p.Q119Q		SLC27A4		SNV			1				ENST00000300456	protein_coding			hmmpanther:PTHR24096:SF145,hmmpanther:PTHR24096,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801		Q		A		474/3028							YES	SLC27A4,synonymous_variant,p.=,ENST00000300456,NM_005094.3;SLC27A4,intron_variant,,ENST00000372870,;TMSB4XP4,downstream_gene_variant,,ENST00000323496,;							LOW	357/1932		S27A4_HUMAN			Transcript			.	ENSP00000300456		CCDS6899.1			1	
SMG6	0	LGGM	GRCh37	17	2075991	2075991	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	5	7	.	.	ENST00000263073.6:c.3318C>T	p.Ala1106=	p.A1106=	ENST00000263073	NM_017575.4	1106	gcC/gcT	0	1	1	UPI00002005C8	0		ENST00000263073		ENSG00000070366	17809		12			HGNC	p.A198A		SMG6		SNV							ENST00000354901	protein_coding			hmmpanther:PTHR13548,hmmpanther:PTHR13548:SF1,Superfamily_domains:SSF48452		A		A		3369/5960				K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN			YES	SMG6,synonymous_variant,p.=,ENST00000544865,;SMG6,synonymous_variant,p.=,ENST00000263073,NM_017575.4;SMG6,synonymous_variant,p.=,ENST00000354901,NM_001256827.1;SMG6,synonymous_variant,p.=,ENST00000536871,NM_001256828.1;SMG6,synonymous_variant,p.=,ENST00000572369,;SMG6,synonymous_variant,p.=,ENST00000575454,;SMG6,downstream_gene_variant,,ENST00000570659,;SMG6,downstream_gene_variant,,ENST00000571442,;SMG6,downstream_gene_variant,,ENST00000575663,;SMG6,downstream_gene_variant,,ENST00000575176,;SMG6,downstream_gene_variant,,ENST00000572205,;SMG6,non_coding_transcript_exon_variant,,ENST00000570874,;							LOW	3318/4260		EST1A_HUMAN			Transcript			.	ENSP00000263073		CCDS11016.1			1	
STRADA	0	LGGM	GRCh37	17	61791444	61791444	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	41	8	.	.	ENST00000336174.6:c.148A>G	p.Ile50Val	p.I50V	ENST00000336174	NM_001003787.2	50	Ata/Gta	0	1	1	UPI000013CBBE	0	NA	ENST00000336174		ENSG00000266173	30172		49	0.345		HGNC	p.I21V		STRADA		SNV			1				ENST00000582137	protein_coding	getma.org/?cm=var&var=hg19,17,61791444,T,C&fts=all		hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361		I/V		C	neutral	261/2143		getma.org/?cm=msa&ty=f&p=STRAA_HUMAN&rb=1&re=68&var=I50V	tolerated(0.17)	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN			YES	STRADA,missense_variant,p.Ile13Val,ENST00000392950,NM_153335.5,NM_001165969.1,NM_001003786.2;STRADA,missense_variant,p.Ile50Val,ENST00000336174,NM_001003787.2;STRADA,missense_variant,p.Ile21Val,ENST00000582137,;STRADA,missense_variant,p.Ile13Val,ENST00000579549,;STRADA,5_prime_UTR_variant,,ENST00000245865,;STRADA,5_prime_UTR_variant,,ENST00000375840,NM_001003788.2;STRADA,5_prime_UTR_variant,,ENST00000579340,;STRADA,5_prime_UTR_variant,,ENST00000582030,;STRADA,5_prime_UTR_variant,,ENST00000584110,;STRADA,5_prime_UTR_variant,,ENST00000580338,;STRADA,intron_variant,,ENST00000447001,NM_001165970.1;STRADA,upstream_gene_variant,,ENST00000578008,;STRADA,upstream_gene_variant,,ENST00000578801,;STRADA,downstream_gene_variant,,ENST00000580288,;STRADA,non_coding_transcript_exon_variant,,ENST00000579350,;STRADA,intron_variant,,ENST00000580039,;STRADA,intron_variant,,ENST00000581505,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,3_prime_UTR_variant,,ENST00000581243,;STRADA,non_coding_transcript_exon_variant,,ENST00000577375,;STRADA,non_coding_transcript_exon_variant,,ENST00000579318,;							MODERATE	148/1296	I50V	STRAA_HUMAN			Transcript		benign(0.008)	.	ENSP00000336655		CCDS32703.1			1	
C11orf57	0	LGGM	GRCh37	11	111952733	111952733	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	20	8	.	.	ENST00000393047.3:c.348A>G	p.Leu116=	p.L116=	ENST00000393047		116	ttA/ttG	0	1		UPI0000405397	0		ENST00000280352		ENSG00000150776	25569		28			HGNC	p.L87L		C11orf57		SNV							ENST00000532163	protein_coding					L		G		984/3693				E9PQL5_HUMAN				C11orf57,synonymous_variant,p.=,ENST00000532163,;C11orf57,synonymous_variant,p.=,ENST00000280352,NM_018195.3,NM_001082970.1;C11orf57,synonymous_variant,p.=,ENST00000393047,;C11orf57,synonymous_variant,p.=,ENST00000420986,NM_001082969.1;C11orf57,synonymous_variant,p.=,ENST00000525785,;C11orf57,synonymous_variant,p.=,ENST00000531378,;C11orf57,3_prime_UTR_variant,,ENST00000530104,;SDHD,upstream_gene_variant,,ENST00000375549,NM_003002.3;SDHD,upstream_gene_variant,,ENST00000528048,NM_001276503.1;SDHD,upstream_gene_variant,,ENST00000526592,NM_001276506.1;TIMM8B,downstream_gene_variant,,ENST00000504148,NM_012459.2;TIMM8B,downstream_gene_variant,,ENST00000541231,;SDHD,upstream_gene_variant,,ENST00000525291,NM_001276504.1;SDHD,upstream_gene_variant,,ENST00000528182,;SDHD,upstream_gene_variant,,ENST00000528021,;C11orf57,downstream_gene_variant,,ENST00000526879,;TIMM8B,downstream_gene_variant,,ENST00000507614,;C11orf57,3_prime_UTR_variant,,ENST00000524989,;TIMM8B,downstream_gene_variant,,ENST00000509359,;SDHD,upstream_gene_variant,,ENST00000525987,;SDHD,upstream_gene_variant,,ENST00000530923,;SDHD,upstream_gene_variant,,ENST00000532699,;SDHD,upstream_gene_variant,,ENST00000531744,;							LOW	348/879		CK057_HUMAN			Transcript			.	ENSP00000339076		CCDS41715.1			1	
TTC13	0	LGGM	GRCh37	1	231075209	231075209	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	38	8	.	.	ENST00000366661.4:c.823T>C	p.Ser275Pro	p.S275P	ENST00000366661	NM_024525.4	275	Tcc/Ccc	0	1	1	UPI000013D91C	0	getma.org/pdb.php?prot=TTC13_HUMAN&from=248&to=315&var=S275P	ENST00000366661		ENSG00000143643	26204		46	2.395		HGNC	p.S222P		TTC13		SNV							ENST00000366662	protein_coding	getma.org/?cm=var&var=hg19,1,231075209,A,G&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF363,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452		S/P		G	medium	831/3253		getma.org/?cm=msa&ty=f&p=TTC13_HUMAN&rb=248&re=315&var=S275P	deleterious(0.01)	Q9H659_HUMAN,Q69YR0_HUMAN			YES	TTC13,missense_variant,p.Ser275Pro,ENST00000366661,NM_024525.4;TTC13,missense_variant,p.Ser222Pro,ENST00000414259,;TTC13,missense_variant,p.Ser222Pro,ENST00000366662,NM_001122835.2;TTC13,missense_variant,p.Ser165Pro,ENST00000522399,;TTC13,intron_variant,,ENST00000522821,;TTC13,intron_variant,,ENST00000481976,;TTC13,downstream_gene_variant,,ENST00000466507,;TTC13,upstream_gene_variant,,ENST00000519379,;							MODERATE	823/2583	S275P	TTC13_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355621		CCDS1588.1			1	
BAIAP2	0	LGGM	GRCh37	17	79077420	79077420	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	2	8	.	.	ENST00000321300.6:c.761T>A	p.Leu254His	p.L254H	ENST00000321300	NM_001144888.1	254	cTc/cAc	0	1	1	UPI000000D762	0	NA	ENST00000321300		ENSG00000175866	947		10	0.69		HGNC	p.L254H		BAIAP2		SNV							ENST00000575712	protein_coding	getma.org/?cm=var&var=hg19,17,79077420,T,A&fts=all		hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF3		L/H		A	neutral	854/2879		getma.org/?cm=msa&ty=f&p=BAIP2_HUMAN&rb=238&re=377&var=L254H	tolerated(0.21)	I3L526_HUMAN,I3L327_HUMAN,I3L2M4_HUMAN,I3L1C8_HUMAN,I3L125_HUMAN,I3L113_HUMAN,I3L0Y9_HUMAN,I3L0M4_HUMAN			YES	BAIAP2,missense_variant,p.Leu254His,ENST00000321300,NM_001144888.1,NM_017451.2;BAIAP2,missense_variant,p.Leu254His,ENST00000575712,;BAIAP2,missense_variant,p.Leu287His,ENST00000575245,;BAIAP2,missense_variant,p.Leu254His,ENST00000435091,NM_006340.2;BAIAP2,missense_variant,p.Leu254His,ENST00000428708,;BAIAP2,missense_variant,p.Leu254His,ENST00000321280,NM_017450.2;BAIAP2,missense_variant,p.Leu176His,ENST00000392411,;BAIAP2,missense_variant,p.Leu117His,ENST00000416299,;BAIAP2,missense_variant,p.Leu196His,ENST00000572073,;BAIAP2,missense_variant,p.Leu11His,ENST00000576756,;BAIAP2,intron_variant,,ENST00000575841,;BAIAP2,upstream_gene_variant,,ENST00000572498,;BAIAP2,downstream_gene_variant,,ENST00000573677,;BAIAP2,downstream_gene_variant,,ENST00000572918,;BAIAP2,downstream_gene_variant,,ENST00000573659,;BAIAP2,downstream_gene_variant,,ENST00000575958,;BAIAP2,downstream_gene_variant,,ENST00000574027,;BAIAP2,downstream_gene_variant,,ENST00000573017,;BAIAP2,downstream_gene_variant,,ENST00000576364,;BAIAP2,3_prime_UTR_variant,,ENST00000572329,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000576225,;BAIAP2,non_coding_transcript_exon_variant,,ENST00000577097,;BAIAP2,upstream_gene_variant,,ENST00000576995,;BAIAP2,downstream_gene_variant,,ENST00000574804,;							MODERATE	761/1659	L254H	BAIP2_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000316338		CCDS11775.1			1	
GLIS3	0	LGGM	GRCh37	9	3856053	3856053	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	27	9	.	.	ENST00000381971.3:c.2429C>T	p.Pro810Leu	p.P810L	ENST00000381971	NM_001042413.1	810	cCa/cTa	0	1		UPI00003675FE	0	NA	ENST00000324333		ENSG00000107249	28510		36	0.805		HGNC	p.P810L		GLIS3		SNV			1				ENST00000381971	protein_coding	getma.org/?cm=var&var=hg19,9,3856053,G,A&fts=all		hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818		P/L		A	low	2158/6667		getma.org/?cm=msa&ty=f&p=GLIS3_HUMAN&rb=516&re=773&var=P655L	deleterious(0.01)	Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,missense_variant,p.Pro655Leu,ENST00000324333,NM_152629.3;GLIS3,missense_variant,p.Pro810Leu,ENST00000381971,NM_001042413.1;GLIS3,non_coding_transcript_exon_variant,,ENST00000461870,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;							MODERATE	1964/2328	P655L	GLIS3_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000325494		CCDS6451.1			1	
EHBP1	0	LGGM	GRCh37	2	63170027	63170027	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	22	9	.	.	ENST00000263991.5:c.1465T>G	p.Leu489Val	p.L489V	ENST00000263991	NM_015252.3	489	Tta/Gta	0	1	1	UPI000013D49A	0	getma.org/pdb.php?prot=EHBP1_HUMAN&from=446&to=548&var=L489V	ENST00000263991		ENSG00000115504	29144		31	2.79		HGNC	p.L489V		EHBP1		SNV			1				ENST00000263991	protein_coding	getma.org/?cm=var&var=hg19,2,63170027,T,G&fts=all		PROSITE_profiles:PS50021,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576		L/V		G	medium	1947/5165		getma.org/?cm=msa&ty=f&p=EHBP1_HUMAN&rb=446&re=548&var=L489V	tolerated(0.17)	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN			YES	EHBP1,missense_variant,p.Leu489Val,ENST00000263991,NM_015252.3;EHBP1,missense_variant,p.Leu454Val,ENST00000431489,NM_001142616.1;EHBP1,missense_variant,p.Leu454Val,ENST00000354487,NM_001142614.1;EHBP1,missense_variant,p.Leu454Val,ENST00000405015,NM_001142615.2;EHBP1,missense_variant,p.Leu454Val,ENST00000405289,;EHBP1,non_coding_transcript_exon_variant,,ENST00000469591,;RP11-443F16.1,downstream_gene_variant,,ENST00000420122,;							MODERATE	1465/3696	L489V	EHBP1_HUMAN			Transcript		benign(0.063)	.	ENSP00000263991		CCDS1872.1			1	
RHPN2	0	LGGM	GRCh37	19	33486935	33486935	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	13	10	.	.	ENST00000254260.3:c.1417G>T	p.Val473Phe	p.V473F	ENST00000254260	NM_033103.4	473	Gtt/Ttt	0	1	1	UPI00000747A3	0	NA	ENST00000254260		ENSG00000131941	19974		23	2.19		HGNC	p.V203F		RHPN2		SNV							ENST00000544458	protein_coding	getma.org/?cm=var&var=hg19,19,33486935,C,A&fts=all		Gene3D:2xs1A01,Pfam_domain:PF03097,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041		V/F		A	medium	1453/3500		getma.org/?cm=msa&ty=f&p=RHPN2_HUMAN&rb=111&re=517&var=V473F	tolerated(0.7)	B4DUS7_HUMAN,B3KX27_HUMAN			YES	RHPN2,missense_variant,p.Val473Phe,ENST00000254260,NM_033103.4;RHPN2,missense_variant,p.Val322Phe,ENST00000400226,;RHPN2,upstream_gene_variant,,ENST00000588683,;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;RHPN2,non_coding_transcript_exon_variant,,ENST00000585641,;RHPN2,upstream_gene_variant,,ENST00000591502,;							MODERATE	1417/2061	V473F	RHPN2_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000254260		CCDS12427.1			1	
RUVBL2	0	LGGM	GRCh37	19	49517764	49517764	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	25	10	.	.	ENST00000595090.1:c.1025G>A	p.Ser342Asn	p.S342N	ENST00000595090	NM_006666.1	342	aGc/aAc	0	1	1	UPI0000044738	0	getma.org/pdb.php?prot=RUVB2_HUMAN&from=21&to=412&var=S342N	ENST00000595090		ENSG00000183207	10475		35	3.585		HGNC	p.S297N		RUVBL2		SNV							ENST00000413176	protein_coding	getma.org/?cm=var&var=hg19,19,49517764,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF06068,hmmpanther:PTHR11093,SMART_domains:SM00382,Superfamily_domains:SSF52540		S/N		A	high	1489/2009		getma.org/?cm=msa&ty=f&p=RUVB2_HUMAN&rb=21&re=412&var=S342N	deleterious(0)	M0QXI6_HUMAN,B3KQ59_HUMAN			YES	RUVBL2,missense_variant,p.Ser297Asn,ENST00000413176,;RUVBL2,missense_variant,p.Ser342Asn,ENST00000595090,NM_006666.1;RUVBL2,missense_variant,p.Ser297Asn,ENST00000601968,;LHB,downstream_gene_variant,,ENST00000221421,NM_000894.2;CTB-60B18.10,downstream_gene_variant,,ENST00000600007,;RUVBL2,3_prime_UTR_variant,,ENST00000596247,;RUVBL2,3_prime_UTR_variant,,ENST00000221413,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594338,;RUVBL2,downstream_gene_variant,,ENST00000594017,;RUVBL2,downstream_gene_variant,,ENST00000593570,;RUVBL2,upstream_gene_variant,,ENST00000595002,;							MODERATE	1025/1392	S342N	RUVB2_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000473172		CCDS42588.1			1	
PRKDC	0	LGGM	GRCh37	8	48694949	48694949	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	4	10	.	.	ENST00000314191.2:c.11383A>G	p.Met3795Val	p.M3795V	ENST00000314191	NM_006904.6	3795	Atg/Gtg	0	1	1	UPI000045790C	0	getma.org/pdb.php?prot=PRKDC_HUMAN&from=3747&to=4015&var=M3796V	ENST00000314191		ENSG00000253729	9413		14	1.865		HGNC	p.M3795V	rs371730721	PRKDC		SNV	C:0.0002		1				ENST00000314191	protein_coding	getma.org/?cm=var&var=hg19,8,48694949,T,C&fts=all		PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF00454,Gene3D:3.30.1010.10,SMART_domains:SM00146,Superfamily_domains:SSF56112		M/V	C:0	C	low	11440/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=3747&re=4015&var=M3796V		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Met3795Val,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Met3795Val,ENST00000338368,NM_001081640.1;PRKDC,upstream_gene_variant,,ENST00000536429,;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000521331,;PRKDC,upstream_gene_variant,,ENST00000536483,;PRKDC,downstream_gene_variant,,ENST00000432581,;PRKDC,upstream_gene_variant,,ENST00000536710,;							MODERATE	11383/12384	M3796V	PRKDC_HUMAN			Transcript		benign(0.259)	.	ENSP00000313420					1	
STK39	0	LGGM	GRCh37	2	168931699	168931699	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	77	10	.	.	ENST00000355999.4:c.1132G>A	p.Glu378Lys	p.E378K	ENST00000355999	NM_013233.2	378	Gaa/Aaa	0	1	1	UPI000013D46D	0	NA	ENST00000355999		ENSG00000198648	17717		87	1.07		HGNC	p.E378K	rs759384781	STK39		SNV							ENST00000355999	protein_coding	getma.org/?cm=var&var=hg19,2,168931699,C,T&fts=all		hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361		E/K		T	low	1838/3820	3.00E-05	getma.org/?cm=msa&ty=f&p=STK39_HUMAN&rb=338&re=451&var=E378K	tolerated(0.17)				YES	STK39,missense_variant,p.Glu378Lys,ENST00000355999,NM_013233.2;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;							MODERATE	1132/1638	E378K	STK39_HUMAN			Transcript		benign(0.19)	.	ENSP00000348278	1.65E-05	CCDS42770.1			1	
ALDH1L1	0	LGGM	GRCh37	3	125874304	125874304	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	10	11	.	.	ENST00000273450.3:c.601C>T	p.Leu201Phe	p.L201F	ENST00000273450	NM_001270364.1	201	Ctc/Ttc	0	1		UPI000013EE40	0	getma.org/pdb.php?prot=AL1L1_HUMAN&from=181&to=203&var=L191F	ENST00000393434		ENSG00000144908	3978		21	0.77		HGNC	p.L191F		ALDH1L1		SNV							ENST00000393431	protein_coding	getma.org/?cm=var&var=hg19,3,125874304,G,A&fts=all		Gene3D:3.40.50.170,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53328		L/F		A	neutral	921/3277		getma.org/?cm=msa&ty=f&p=AL1L1_HUMAN&rb=151&re=233&var=L191F	deleterious_low_confidence(0)	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN				ALDH1L1,missense_variant,p.Leu191Phe,ENST00000393434,NM_012190.3;ALDH1L1,missense_variant,p.Leu201Phe,ENST00000273450,NM_001270364.1;ALDH1L1,missense_variant,p.Leu191Phe,ENST00000472186,;ALDH1L1,missense_variant,p.Leu191Phe,ENST00000393431,;ALDH1L1,missense_variant,p.Leu16Phe,ENST00000455064,;ALDH1L1,intron_variant,,ENST00000452905,NM_001270365.1;ALDH1L1,downstream_gene_variant,,ENST00000460368,;ALDH1L1,downstream_gene_variant,,ENST00000488356,;ALDH1L1,downstream_gene_variant,,ENST00000490367,;ALDH1L1,downstream_gene_variant,,ENST00000509952,;U1,downstream_gene_variant,,ENST00000606575,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000413612,;ALDH1L1,3_prime_UTR_variant,,ENST00000473607,;ALDH1L1,3_prime_UTR_variant,,ENST00000493803,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000476245,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000484724,;ALDH1L1,downstream_gene_variant,,ENST00000511283,;							MODERATE	571/2709	L191F	AL1L1_HUMAN			Transcript		benign(0.089)	.	ENSP00000377083		CCDS3034.1			1	
SCFD1	0	LGGM	GRCh37	14	31191764	31191764	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	14	11	.	.	ENST00000458591.2:c.1835A>T	p.Lys612Met	p.K612M	ENST00000458591	NM_016106.3	612	aAg/aTg	0	1	1	UPI000013C6E3	0	getma.org/pdb.php?prot=SCFD1_HUMAN&from=43&to=636&var=K612M	ENST00000458591		ENSG00000092108	20726		25	2.73		HGNC	p.K427M		SCFD1		SNV							ENST00000541123	protein_coding	getma.org/?cm=var&var=hg19,14,31191764,A,T&fts=all		Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Gene3D:3.40.50.1910,Pfam_domain:PF00995,hmmpanther:PTHR11679:SF2,hmmpanther:PTHR11679		K/M		T	medium	2062/2359		getma.org/?cm=msa&ty=f&p=SCFD1_HUMAN&rb=43&re=636&var=K612M	deleterious(0)	G3V5E2_HUMAN,G3V2M8_HUMAN,B7Z5N7_HUMAN			YES	SCFD1,missense_variant,p.Lys612Met,ENST00000458591,NM_016106.3;SCFD1,missense_variant,p.Lys545Met,ENST00000544052,NM_182835.2;SCFD1,missense_variant,p.Lys520Met,ENST00000396629,NM_001257376.1;SCFD1,missense_variant,p.Lys427Met,ENST00000541123,NM_001283031.1;SCFD1,missense_variant,p.Lys553Met,ENST00000421551,NM_001283032.1;SCFD1,splice_region_variant,,ENST00000484733,;SCFD1,splice_region_variant,,ENST00000311943,NM_001283031.1;SCFD1,splice_region_variant,,ENST00000463622,NM_001283032.1;SCFD1,splice_region_variant,,ENST00000556768,NM_001283033.1;SCFD1,splice_region_variant,,ENST00000556486,;SCFD1,splice_region_variant,,ENST00000554437,;SCFD1,splice_region_variant,,ENST00000556256,;SCFD1,non_coding_transcript_exon_variant,,ENST00000555550,;							MODERATE	1835/1929	K612M	SCFD1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000390783		CCDS9639.1			1	
BRWD3	0	LGGM	GRCh37	X	79932262	79932262	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	5	11	.	.	ENST00000373275.4:c.5255A>C	p.Gln1752Pro	p.Q1752P	ENST00000373275	NM_153252.4	1752	cAa/cCa	0	1	1	UPI000045785B	0	NA	ENST00000373275		ENSG00000165288	17342		16	0.895		HGNC	p.Q1752P		BRWD3		SNV			1				ENST00000373275	protein_coding	getma.org/?cm=var&var=hg19,X,79932262,T,G&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF25		Q/P		G	low	5472/11381		getma.org/?cm=msa&ty=f&p=BRWD3_HUMAN&rb=1731&re=1800&var=Q1752P	deleterious_low_confidence(0)				YES	BRWD3,missense_variant,p.Gln1752Pro,ENST00000373275,NM_153252.4;BRWD3,downstream_gene_variant,,ENST00000473691,;							MODERATE	5255/5409	Q1752P	BRWD3_HUMAN			Transcript		unknown(0)	.	ENSP00000362372		CCDS14447.1			1	
MAN2B1	0	LGGM	GRCh37	19	12776319	12776319	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	21	12	.	.	ENST00000456935.2:c.283G>T	p.Ala95Ser	p.A95S	ENST00000456935	NM_000528.3	95	Gcc/Tcc	0	1	1	UPI00000559EC	0	getma.org/pdb.php?prot=MA2B1_HUMAN&from=64&to=381&var=A95S	ENST00000456935		ENSG00000104774	6826		33	2.76		HGNC	p.A104S		MAN2B1		SNV			1				ENST00000598876	protein_coding	getma.org/?cm=var&var=hg19,19,12776319,C,A&fts=all		hmmpanther:PTHR11607:SF3,hmmpanther:PTHR11607,Pfam_domain:PF01074,Gene3D:3.20.110.10,Superfamily_domains:SSF88713		A/S		A	medium	324/3184		getma.org/?cm=msa&ty=f&p=MA2B1_HUMAN&rb=64&re=381&var=A95S	deleterious(0.01)	B4E0K9_HUMAN			YES	MAN2B1,missense_variant,p.Ala95Ser,ENST00000456935,NM_000528.3,NM_001173498.1;MAN2B1,missense_variant,p.Ala95Ser,ENST00000221363,;CTD-2192J16.24,missense_variant,p.Ala92Ser,ENST00000597961,;MAN2B1,missense_variant,p.Ala104Ser,ENST00000598876,;MAN2B1,synonymous_variant,p.=,ENST00000486847,;WDR83OS,downstream_gene_variant,,ENST00000596731,NM_016145.3;WDR83,upstream_gene_variant,,ENST00000418543,NM_001099737.2;WDR83,upstream_gene_variant,,ENST00000242796,NM_032332.3;WDR83,upstream_gene_variant,,ENST00000547797,;WDR83OS,downstream_gene_variant,,ENST00000598732,;WDR83OS,downstream_gene_variant,,ENST00000222190,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000596512,;WDR83OS,downstream_gene_variant,,ENST00000600694,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000466794,;MAN2B1,non_coding_transcript_exon_variant,,ENST00000600281,;WDR83,upstream_gene_variant,,ENST00000546754,;WDR83,upstream_gene_variant,,ENST00000548381,;WDR83,upstream_gene_variant,,ENST00000553179,;WDR83,upstream_gene_variant,,ENST00000547255,;WDR83,upstream_gene_variant,,ENST00000425834,;WDR83,upstream_gene_variant,,ENST00000547481,;WDR83,upstream_gene_variant,,ENST00000551329,;WDR83,upstream_gene_variant,,ENST00000550939,;MAN2B1,upstream_gene_variant,,ENST00000462144,;							MODERATE	283/3036	A95S	MA2B1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000395473		CCDS32919.1			1	
TRAPPC4	0	LGGM	GRCh37	11	118892528	118892528	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	27	12	.	.	ENST00000533632.1:c.513A>G	p.Arg171=	p.R171=	ENST00000533632	NM_016146.4	171	cgA/cgG	0	1	1	UPI0000052E23	0		ENST00000533632		ENSG00000196655	19943		39			HGNC	p.R171R		TRAPPC4		SNV							ENST00000533632	protein_coding			Superfamily_domains:SSF64356,Gene3D:2j3wA00,Pfam_domain:PF04099,hmmpanther:PTHR23249,hmmpanther:PTHR23249:SF15		R		G		877/1759				G3V1A0_HUMAN			YES	TRAPPC4,synonymous_variant,p.=,ENST00000533632,NM_016146.4;TRAPPC4,synonymous_variant,p.=,ENST00000533058,;TRAPPC4,synonymous_variant,p.=,ENST00000434101,;TRAPPC4,synonymous_variant,p.=,ENST00000525303,;TRAPPC4,synonymous_variant,p.=,ENST00000528230,;TRAPPC4,intron_variant,,ENST00000359005,;SLC37A4,downstream_gene_variant,,ENST00000545985,NM_001164277.1,NM_001467.5;SLC37A4,downstream_gene_variant,,ENST00000357590,NM_001164278.1;SLC37A4,downstream_gene_variant,,ENST00000330775,;SLC37A4,downstream_gene_variant,,ENST00000538950,NM_001164279.1;RPS25,upstream_gene_variant,,ENST00000527673,NM_001028.2;MIR3656,downstream_gene_variant,,ENST00000577421,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000526141,;SLC37A4,downstream_gene_variant,,ENST00000525102,;SLC37A4,downstream_gene_variant,,ENST00000527992,;SLC37A4,downstream_gene_variant,,ENST00000525039,;SLC37A4,downstream_gene_variant,,ENST00000530407,;SLC37A4,downstream_gene_variant,,ENST00000525372,;SLC37A4,downstream_gene_variant,,ENST00000529510,;RPS25,upstream_gene_variant,,ENST00000528547,;TRAPPC4,3_prime_UTR_variant,,ENST00000533012,;TRAPPC4,3_prime_UTR_variant,,ENST00000525079,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000524797,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000533149,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000531290,;SLC37A4,downstream_gene_variant,,ENST00000532085,;SLC37A4,downstream_gene_variant,,ENST00000526275,;SLC37A4,downstream_gene_variant,,ENST00000524428,;RPS25,upstream_gene_variant,,ENST00000527853,;SLC37A4,downstream_gene_variant,,ENST00000532888,;RPS25,upstream_gene_variant,,ENST00000524864,;TRAPPC4,downstream_gene_variant,,ENST00000447216,;RPS25,upstream_gene_variant,,ENST00000527791,;TRAPPC4,downstream_gene_variant,,ENST00000527680,;RPS25,upstream_gene_variant,,ENST00000532567,;							LOW	513/660		TPPC4_HUMAN			Transcript			.	ENSP00000436005		CCDS8407.1			1	
COQ6	0	LGGM	GRCh37	14	74429749	74429749	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	20	12	.	.	ENST00000334571.2:c.*47T>C		*16*	ENST00000334571	NM_182476.2			0	1		UPI0000127F00	0		ENST00000334571		ENSG00000119723	20233		32			HGNC	p.P186P		COQ6		SNV			1				ENST00000554920	protein_coding							C		1494/2118				G3V2W8_HUMAN			YES	COQ6,synonymous_variant,p.=,ENST00000554920,;ENTPD5,3_prime_UTR_variant,,ENST00000334696,NM_001249.2;COQ6,3_prime_UTR_variant,,ENST00000334571,NM_182476.2;COQ6,3_prime_UTR_variant,,ENST00000394026,NM_182480.2;COQ6,3_prime_UTR_variant,,ENST00000238709,;ENTPD5,intron_variant,,ENST00000557325,;ENTPD5,intron_variant,,ENST00000555829,;COQ6,downstream_gene_variant,,ENST00000554320,;COQ6,non_coding_transcript_exon_variant,,ENST00000557780,;COQ6,3_prime_UTR_variant,,ENST00000554341,;COQ6,non_coding_transcript_exon_variant,,ENST00000556588,;COQ6,non_coding_transcript_exon_variant,,ENST00000556299,;COQ6,downstream_gene_variant,,ENST00000553448,;COQ6,downstream_gene_variant,,ENST00000553462,;COQ6,downstream_gene_variant,,ENST00000556300,;COQ6,downstream_gene_variant,,ENST00000557205,;COQ6,downstream_gene_variant,,ENST00000555511,;COQ6,downstream_gene_variant,,ENST00000557584,;COQ6,downstream_gene_variant,,ENST00000554153,;							MODIFIER	-/1407		COQ6_HUMAN			Transcript			.	ENSP00000333946		CCDS9823.1			1	
SLC28A1	0	LGGM	GRCh37	15	85488377	85488377	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	18	12	.	.	ENST00000394573.1:c.1896A>G	p.Pro632=	p.P632=	ENST00000394573	NM_004213.3	632	ccA/ccG	0	1		UPI000013DE67	0		ENST00000286749		ENSG00000156222	11001		30			HGNC	p.P632P		SLC28A1		SNV							ENST00000394573	protein_coding			hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12		P		G		1986/2636								SLC28A1,synonymous_variant,p.=,ENST00000394573,NM_004213.3;SLC28A1,synonymous_variant,p.=,ENST00000286749,NM_001287762.1;SLC28A1,synonymous_variant,p.=,ENST00000538177,NM_001287761.1;SLC28A1,intron_variant,,ENST00000537624,;SLC28A1,intron_variant,,ENST00000537216,;RP11-255M6.1,upstream_gene_variant,,ENST00000604365,;							LOW	1896/1950		S28A1_HUMAN			Transcript			.	ENSP00000286749		CCDS10334.1			1	
HIVEP2	0	LGGM	GRCh37	6	143091299	143091299	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	23	13	.	.	ENST00000367603.2:c.4577A>G	p.Tyr1526Cys	p.Y1526C	ENST00000367603	NM_006734.3	1526	tAt/tGt	0	1		UPI00004708DD	0	NA	ENST00000012134		ENSG00000010818	4921		36	1.245		HGNC	p.Y1526C		HIVEP2		SNV							ENST00000367604	protein_coding	getma.org/?cm=var&var=hg19,6,143091299,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53		Y/C		C	low	5122/9524		getma.org/?cm=msa&ty=f&p=ZEP2_HUMAN&rb=375&re=1775&var=Y1526C	tolerated(0.18)	B4DKE9_HUMAN				HIVEP2,missense_variant,p.Tyr1526Cys,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Tyr1526Cys,ENST00000367604,;HIVEP2,missense_variant,p.Tyr1526Cys,ENST00000012134,;							MODERATE	4577/7341	Y1526C	ZEP2_HUMAN			Transcript		benign(0.371)	.	ENSP00000012134		CCDS43510.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110474058	110474058	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	63	13	.	.	ENST00000378402.5:c.7304A>C	p.Asp2435Ala	p.D2435A	ENST00000378402	NM_177531.4	2435	gAc/gCc	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		76	3.365		HGNC	p.D2435A		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110474058,A,C&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		D/A		C	medium	7408/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=2305&re=2504&var=D2435A	deleterious(0)				YES	PKHD1L1,missense_variant,p.Asp2435Ala,ENST00000378402,NM_177531.4;							MODERATE	7304/12732	D2435A	PKHL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367655		CCDS47911.1			1	
UTRN	0	LGGM	GRCh37	6	145115058	145115058	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	33	14	.	.	ENST00000367545.3:c.9009G>T	p.Arg3003=	p.R3003=	ENST00000367545	NM_007124.2	3003	cgG/cgT	0	1	1	UPI00003673F1	0		ENST00000367545		ENSG00000152818	12635		47			HGNC	p.R3003R		UTRN		SNV							ENST00000367545	protein_coding			hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.10.238.10,Pfam_domain:PF09069,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47473		R		T		9009/12339				Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,synonymous_variant,p.=,ENST00000367545,NM_007124.2;UTRN,synonymous_variant,p.=,ENST00000367526,;UTRN,synonymous_variant,p.=,ENST00000367524,;UTRN,upstream_gene_variant,,ENST00000417142,;UTRN,upstream_gene_variant,,ENST00000432686,;							LOW	9009/10302		UTRO_HUMAN			Transcript			.	ENSP00000356515		CCDS34547.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67319326	67319326	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	34	14	.	.	ENST00000360461.5:c.2329C>T	p.His777Tyr	p.H777Y	ENST00000360461	NM_001129727.1	777	Cac/Tac	0	1	1	UPI000013C774	0	getma.org/pdb.php?prot=PKHG4_HUMAN&from=736&to=907&var=H777Y	ENST00000360461		ENSG00000196155	24501		48	0.405		HGNC	p.H777Y		PLEKHG4		SNV			1				ENST00000379344	protein_coding	getma.org/?cm=var&var=hg19,16,67319326,C,T&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF110,SMART_domains:SM00325,Superfamily_domains:SSF48065		H/Y		T	neutral	4864/6782		getma.org/?cm=msa&ty=f&p=PKHG4_HUMAN&rb=736&re=907&var=H777Y	tolerated(0.09)	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,missense_variant,p.His777Tyr,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,missense_variant,p.His777Tyr,ENST00000379344,NM_001129729.1;PLEKHG4,missense_variant,p.His696Tyr,ENST00000450733,NM_001129731.1;PLEKHG4,missense_variant,p.His777Tyr,ENST00000427155,NM_001129728.1;KCTD19,downstream_gene_variant,,ENST00000304372,NM_001100915.1;KCTD19,downstream_gene_variant,,ENST00000562841,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,upstream_gene_variant,,ENST00000569875,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,intron_variant,,ENST00000393966,;KCTD19,downstream_gene_variant,,ENST00000569333,;KCTD19,downstream_gene_variant,,ENST00000570049,;KCTD19,downstream_gene_variant,,ENST00000566392,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;PLEKHG4,upstream_gene_variant,,ENST00000567136,;							MODERATE	2329/3576	H777Y	PKHG4_HUMAN			Transcript		benign(0.433)	.	ENSP00000353646		CCDS32466.1			1	
ZNF462	0	LGGM	GRCh37	9	109688305	109688305	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	158	14	.	.	ENST00000277225.5:c.2112G>A	p.Gln704=	p.Q704=	ENST00000277225		704	caG/caA	0	1	1	UPI0000470106	0		ENST00000277225		ENSG00000148143	21684		172			HGNC	p.Q704Q		ZNF462		SNV							ENST00000277225	protein_coding			hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385		Q		A		2401/10414				U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,synonymous_variant,p.=,ENST00000277225,;ZNF462,synonymous_variant,p.=,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,;							LOW	2112/7521		ZN462_HUMAN			Transcript			.	ENSP00000277225		CCDS35096.1			1	
ANK2	0	LGGM	GRCh37	4	114209566	114209566	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	31	15	.	.	ENST00000357077.4:c.2201T>C	p.Val734Ala	p.V734A	ENST00000357077	NM_001148.4	734	gTg/gCg	0	1	1	UPI0000441EF3	0	getma.org/pdb.php?prot=ANK2_HUMAN&from=727&to=759&var=V734A	ENST00000357077		ENSG00000145362	493		46	-0.12		HGNC	p.V713A		ANK2		SNV			1				ENST00000503271	protein_coding	getma.org/?cm=var&var=hg19,4,114209566,T,C&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00248,Superfamily_domains:SSF48403		V/A		C	neutral	2254/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=727&re=759&var=V734A		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Val734Ala,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Val734Ala,ENST00000264366,;ANK2,missense_variant,p.Val713Ala,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Val734Ala,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Val749Ala,ENST00000504454,;ANK2,missense_variant,p.Val680Ala,ENST00000503423,;ANK2,missense_variant,p.Val713Ala,ENST00000503271,;ANK2,upstream_gene_variant,,ENST00000509550,;ANK2,upstream_gene_variant,,ENST00000502701,;							MODERATE	2201/11874	V734A	ANK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349588		CCDS3702.1			1	
BARX2	0	LGGM	GRCh37	11	129321165	129321165	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	29	15	.	.	ENST00000281437.4:c.708C>T	p.Pro236=	p.P236=	ENST00000281437	NM_003658.4	236	ccC/ccT	0	1	1	UPI000013DC78	0		ENST00000281437		ENSG00000043039	956		44			HGNC	p.P114P		BARX2		SNV							ENST00000531946	protein_coding			hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF7		P		T		804/1810				G3V397_HUMAN			YES	BARX2,synonymous_variant,p.=,ENST00000281437,NM_003658.4;BARX2,synonymous_variant,p.=,ENST00000526127,;BARX2,synonymous_variant,p.=,ENST00000531946,;							LOW	708/840		BARX2_HUMAN			Transcript			.	ENSP00000281437		CCDS8481.1			1	
PCDHA5	0	LGGM	GRCh37	5	140202389	140202389	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	35	15	.	.	ENST00000529859.1:c.1029T>A	p.Asn343Lys	p.N343K	ENST00000529859	NM_018908.2	343	aaT/aaA	0	1	1	UPI00001273CD	0	getma.org/pdb.php?prot=PCDA5_HUMAN&from=242&to=349&var=N343K	ENST00000529859		ENSG00000204965	8671		50	4.93		HGNC	p.N343K	rs558794478	PCDHA5	6.06E-05	SNV							ENST00000529859	protein_coding	getma.org/?cm=var&var=hg19,5,140202389,T,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		N/K		A	high	1029/5218		getma.org/?cm=msa&ty=f&p=PCDA5_HUMAN&rb=242&re=349&var=N343K	deleterious_low_confidence(0)				YES	PCDHA5,missense_variant,p.Asn343Lys,ENST00000529859,NM_018908.2;PCDHA5,missense_variant,p.Asn343Lys,ENST00000529619,;PCDHA5,missense_variant,p.Asn343Lys,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,;							MODERATE	1029/2811	N343K	PCDA5_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000436557	8.24E-06	CCDS54917.1			1	
TNFRSF10B	0	LGGM	GRCh37	8	22880406	22880406	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	26	15	.	.	ENST00000276431.4:c.1101G>C	p.Glu367Asp	p.E367D	ENST00000276431	NM_147187.2	367	gaG/gaC	0	1	1	UPI000013DAC6	0	NA	ENST00000276431		ENSG00000120889	11905		41	2.14		HGNC	p.E338D		TNFRSF10B		SNV			1				ENST00000347739	protein_coding	getma.org/?cm=var&var=hg19,8,22880406,C,G&fts=all		PROSITE_profiles:PS50017,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF88,Gene3D:1.10.533.10,Pfam_domain:PF00531,PIRSF_domain:PIRSF037867,SMART_domains:SM00005,Superfamily_domains:SSF47986		E/D		G	medium	1386/4146		getma.org/?cm=msa&ty=f&p=TR10B_HUMAN&rb=340&re=422&var=E367D	tolerated(0.08)	Q9BY82_HUMAN,B7Z3M7_HUMAN			YES	TNFRSF10B,missense_variant,p.Glu367Asp,ENST00000276431,NM_147187.2,NM_003842.4;TNFRSF10B,missense_variant,p.Glu338Asp,ENST00000347739,;TNFRSF10B,missense_variant,p.Glu187Asp,ENST00000542226,;RHOBTB2,downstream_gene_variant,,ENST00000251822,NM_015178.2;RHOBTB2,downstream_gene_variant,,ENST00000522948,NM_001160037.1;RHOBTB2,downstream_gene_variant,,ENST00000519685,NM_001160036.1;RP11-875O11.1,upstream_gene_variant,,ENST00000502083,;TNFRSF10B,3_prime_UTR_variant,,ENST00000523504,;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000523752,;TNFRSF10B,non_coding_transcript_exon_variant,,ENST00000520109,;							MODERATE	1101/1323	E367D	TR10B_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000276431		CCDS6035.1			1	
NOD2	0	LGGM	GRCh37	16	50753863	50753863	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	11	16	.	.	ENST00000300589.2:c.2658G>A	p.Ala886=	p.A886=	ENST00000300589	NM_022162.1	886	gcG/gcA	0	1	1	UPI000005027A	0		ENST00000300589		ENSG00000167207	5331		27			HGNC	p.A886A		NOD2		SNV			1				ENST00000300589	protein_coding			Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,SMART_domains:SM00368,Superfamily_domains:SSF52047		A		A		2763/4486				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			YES	NOD2,synonymous_variant,p.=,ENST00000300589,NM_022162.1;NOD2,synonymous_variant,p.=,ENST00000534057,;NOD2,3_prime_UTR_variant,,ENST00000529633,;NOD2,intron_variant,,ENST00000534067,;NOD2,intron_variant,,ENST00000524712,;NOD2,intron_variant,,ENST00000527052,;							LOW	2658/3123		NOD2_HUMAN			Transcript			.	ENSP00000300589		CCDS10746.1			1	
STIL	0	LGGM	GRCh37	1	47717091	47717091	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	59	16	.	.	ENST00000371877.3:c.3584T>C	p.Val1195Ala	p.V1195A	ENST00000371877		1195	gTa/gCa	0	1		UPI0000470133	0	NA	ENST00000360380		ENSG00000123473	10879		75	0.695		HGNC	p.V1195A		STIL		SNV			1				ENST00000371877	protein_coding	getma.org/?cm=var&var=hg19,1,47717091,A,G&fts=all		hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128		V/A		G	neutral	3945/5225		getma.org/?cm=msa&ty=f&p=STIL_HUMAN&rb=1139&re=1215&var=V1194A	tolerated(0.18)	Q5T0D0_HUMAN				STIL,missense_variant,p.Val1194Ala,ENST00000360380,NM_001282936.1;STIL,missense_variant,p.Val1194Ala,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,missense_variant,p.Val1195Ala,ENST00000371877,;STIL,missense_variant,p.Val1194Ala,ENST00000243182,;STIL,missense_variant,p.Val1177Ala,ENST00000396221,NM_001282937.1;							MODERATE	3581/3864	V1194A	STIL_HUMAN			Transcript		benign(0.024)	.	ENSP00000353544		CCDS548.1			1	
NFE2L2	0	LGGM	GRCh37	2	178098807	178098807	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	15	17	.	.	ENST00000397062.3:c.238A>G	p.Thr80Ala	p.T80A	ENST00000397062	NM_006164.4	80	Aca/Gca	0	1	1	UPI000012FFD0	0	NA	ENST00000397062		ENSG00000116044	7782		32	2.865		HGNC	p.T79A	COSM3961573	NFE2L2		SNV						1	ENST00000586532	protein_coding	getma.org/?cm=var&var=hg19,2,178098807,T,C&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3		T/A		C	medium	793/2853		getma.org/?cm=msa&ty=f&p=NF2L2_HUMAN&rb=1&re=200&var=T80A	deleterious(0)	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN			YES	NFE2L2,missense_variant,p.Thr80Ala,ENST00000397062,NM_006164.4;NFE2L2,missense_variant,p.Thr64Ala,ENST00000464747,;NFE2L2,missense_variant,p.Thr64Ala,ENST00000397063,NM_001145412.2,NM_001145413.2;NFE2L2,missense_variant,p.Thr64Ala,ENST00000446151,;NFE2L2,missense_variant,p.Thr64Ala,ENST00000423513,;NFE2L2,missense_variant,p.Thr64Ala,ENST00000421929,;NFE2L2,missense_variant,p.Thr64Ala,ENST00000448782,;NFE2L2,missense_variant,p.Thr64Ala,ENST00000449627,;NFE2L2,missense_variant,p.Thr79Ala,ENST00000586532,;NFE2L2,missense_variant,p.Thr64Ala,ENST00000588123,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;					1		MODERATE	238/1818	T80A	NF2L2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380252		CCDS42782.1			1	
OR2AJ1	0	LGGM	GRCh37	1	248097753	248097753	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	23	17	.	.	ENST00000318244.3:c.683T>C	p.Met228Thr	p.M228T	ENST00000318244		228	aTg/aCg	0	1	1	UPI0000061E5C	0		ENST00000318244		ENSG00000177275	15001		40			HGNC	p.M228T		OR2AJ1		SNV							ENST00000318244	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF214,Superfamily_domains:SSF81321		M/T		C		683/987			tolerated(0.1)				YES	OR2AJ1,missense_variant,p.Met228Thr,ENST00000318244,;OR2L13,upstream_gene_variant,,ENST00000366478,NM_175911.2;RP11-438H8.8,downstream_gene_variant,,ENST00000427566,;OR2X1P,upstream_gene_variant,,ENST00000421144,;							MODERATE	683/987		O2AJ1_HUMAN			Transcript		benign(0.012)	.	ENSP00000325078					1	
FSIP2	0	LGGM	GRCh37	2	186618491	186618491	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	21	18	.	.	ENST00000343098.5:c.1180A>G	p.Lys394Glu	p.K394E	ENST00000343098	NM_173651.2	394	Aaa/Gaa	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		39	0.975		HGNC	p.K305E		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186618491,A,G&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		K/E		G	low	913/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=274&re=305&var=K305E						FSIP2,missense_variant,p.Lys394Glu,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Lys305Glu,ENST00000424728,;FSIP2,missense_variant,p.Lys103Glu,ENST00000546113,;FSIP2,missense_variant,p.Lys109Glu,ENST00000429412,;							MODERATE	913/20724	K305E	FSIP2_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000401306					1	
NIF3L1	0	LGGM	GRCh37	2	201761852	201761852	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	28	19	.	.	ENST00000409020.1:c.780C>T	p.Val260=	p.V260=	ENST00000409020		260	gtC/gtT	0	1	1	UPI0000169B54	0		ENST00000409020		ENSG00000196290	13390		47			HGNC	p.V233V		NIF3L1		SNV							ENST00000359683	protein_coding			hmmpanther:PTHR13799:SF13,hmmpanther:PTHR13799,TIGRFAM_domain:TIGR00486,Gene3D:3.40.1390.30,Pfam_domain:PF01784,PIRSF_domain:PIRSF037490,Superfamily_domains:SSF102705		V		T		1074/1680				Q658J0_HUMAN,E7EXA3_HUMAN,C9JN42_HUMAN,B8ZZI0_HUMAN			YES	NIF3L1,synonymous_variant,p.=,ENST00000409020,;NIF3L1,synonymous_variant,p.=,ENST00000409357,;NIF3L1,synonymous_variant,p.=,ENST00000359683,NM_021824.3;NIF3L1,synonymous_variant,p.=,ENST00000416651,NM_001142355.1,NM_001136039.2;NIF3L1,synonymous_variant,p.=,ENST00000436412,;NIF3L1,intron_variant,,ENST00000409588,NM_001142356.1;NIF3L1,downstream_gene_variant,,ENST00000409129,;NIF3L1,downstream_gene_variant,,ENST00000426253,;NIF3L1,downstream_gene_variant,,ENST00000454952,;RNU6-762P,upstream_gene_variant,,ENST00000517107,;							LOW	780/1134		GTPC1_HUMAN			Transcript			.	ENSP00000386394		CCDS46485.1			1	
AMY2A	0	LGGM	GRCh37	1	104162323	104162323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	59	19	.	.	ENST00000414303.2:c.661G>A	p.Asp221Asn	p.D221N	ENST00000414303	NM_000699.2	221	Gac/Aac	0	1	1	UPI0000000C80	0	getma.org/pdb.php?prot=AMYP_HUMAN&from=36&to=351&var=D221N	ENST00000414303		ENSG00000243480	477		78	3.36		HGNC	p.D221N		AMY2A		SNV							ENST00000414303	protein_coding	getma.org/?cm=var&var=hg19,1,104162323,G,A&fts=all		hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445		D/N		A	medium	725/1634		getma.org/?cm=msa&ty=f&p=AMYP_HUMAN&rb=36&re=351&var=D221N	deleterious(0.01)				YES	AMY2A,missense_variant,p.Asp221Asn,ENST00000414303,NM_000699.2;AMY2A,intron_variant,,ENST00000423678,;AMY2A,upstream_gene_variant,,ENST00000497748,;							MODERATE	661/1536	D221N	AMYP_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000397582		CCDS783.1			1	
UBR5	0	LGGM	GRCh37	8	103297550	103297550	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	33	19	.	.	ENST00000520539.1:c.5501A>G	p.Lys1834Arg	p.K1834R	ENST00000520539	NM_015902.5	1834	aAg/aGg	0	1	1	UPI0000129BCB	0	NA	ENST00000520539		ENSG00000104517	16806		52	-0.46		HGNC	p.K1834R		UBR5		SNV							ENST00000220959	protein_coding	getma.org/?cm=var&var=hg19,8,103297550,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77		K/R		C	neutral	6108/10297		getma.org/?cm=msa&ty=f&p=UBR5_HUMAN&rb=1649&re=1848&var=K1834R	tolerated(0.88)	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN			YES	UBR5,missense_variant,p.Lys1834Arg,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Lys1834Arg,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Lys1828Arg,ENST00000521922,;UBR5,downstream_gene_variant,,ENST00000519528,;							MODERATE	5501/8400	K1834R	UBR5_HUMAN			Transcript		benign(0.344)	.	ENSP00000429084		CCDS34933.1			1	
SUSD4	0	LGGM	GRCh37	1	223441878	223441878	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	34	20	.	.	ENST00000343846.3:c.501T>C	p.Asp167=	p.D167=	ENST00000343846		167	gaT/gaC	0	1	1	UPI0000205CB5	0		ENST00000343846		ENSG00000143502	25470		54			HGNC	p.D167D		SUSD4		SNV							ENST00000343846	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF207,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		D		G		1135/3480				B7Z469_HUMAN			YES	SUSD4,synonymous_variant,p.=,ENST00000343846,;SUSD4,synonymous_variant,p.=,ENST00000366878,NM_017982.3;SUSD4,synonymous_variant,p.=,ENST00000484758,;SUSD4,synonymous_variant,p.=,ENST00000608996,;SUSD4,synonymous_variant,p.=,ENST00000494793,;SUSD4,synonymous_variant,p.=,ENST00000454695,;SUSD4,synonymous_variant,p.=,ENST00000344029,NM_001037175.2;SUSD4,non_coding_transcript_exon_variant,,ENST00000478605,;SUSD4,non_coding_transcript_exon_variant,,ENST00000483818,;SUSD4,non_coding_transcript_exon_variant,,ENST00000497669,;							LOW	501/1473		SUSD4_HUMAN			Transcript			.	ENSP00000344219		CCDS41471.1			1	
CPA4	0	LGGM	GRCh37	7	129962392	129962392	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	17	20	.	.	ENST00000222482.4:c.1142T>C	p.Phe381Ser	p.F381S	ENST00000222482	NM_016352.3	381	tTt/tCt	0	1	1	UPI0000048F00	0	getma.org/pdb.php?prot=CBPA4_HUMAN&from=129&to=408&var=F381S	ENST00000222482		ENSG00000128510	15740		37	3.115		HGNC	p.F348S		CPA4		SNV							ENST00000445470	protein_coding	getma.org/?cm=var&var=hg19,7,129962392,T,C&fts=all		hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF52,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		F/S		C	medium	1170/2797		getma.org/?cm=msa&ty=f&p=CBPA4_HUMAN&rb=129&re=408&var=F381S	deleterious(0)	C9J7D6_HUMAN,B7Z5J4_HUMAN,A4D1M3_HUMAN			YES	CPA4,missense_variant,p.Phe381Ser,ENST00000222482,NM_016352.3;CPA4,missense_variant,p.Phe348Ser,ENST00000445470,NM_001163446.1;CPA4,missense_variant,p.Phe277Ser,ENST00000493259,;snoU13,downstream_gene_variant,,ENST00000459210,;							MODERATE	1142/1266	F381S	CBPA4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000222482		CCDS5818.1			1	
BNC1	0	LGGM	GRCh37	15	83932830	83932830	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	31	21	.	.	ENST00000345382.2:c.1173G>T	p.Gly391=	p.G391=	ENST00000345382	NM_001717.3	391	ggG/ggT	0	1	1	UPI0000126796	0		ENST00000345382		ENSG00000169594	1081		52			HGNC	p.G384G		BNC1		SNV							ENST00000569704	protein_coding			hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1,SMART_domains:SM00355		G		A		1259/4610							YES	BNC1,synonymous_variant,p.=,ENST00000345382,NM_001717.3;BNC1,synonymous_variant,p.=,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;							LOW	1173/2985		BNC1_HUMAN			Transcript			.	ENSP00000307041		CCDS10324.1			1	
LRRN3	0	LGGM	GRCh37	7	110764497	110764497	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	20	21	.	.	ENST00000451085.1:c.1669T>C	p.Phe557Leu	p.F557L	ENST00000451085	NM_001099660.1	557	Ttt/Ctt	0	1		UPI0000037517	0	NA	ENST00000308478		ENSG00000173114	17200		41	0.69		HGNC	p.F557L		LRRN3		SNV							ENST00000451085	protein_coding	getma.org/?cm=var&var=hg19,7,110764497,T,C&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24373:SF7,hmmpanther:PTHR24373,PROSITE_profiles:PS50853		F/L		C	neutral	2608/3099		getma.org/?cm=msa&ty=f&p=LRRN3_HUMAN&rb=525&re=597&var=F557L	tolerated(0.72)	A4D0T1_HUMAN,E7EW58_HUMAN				LRRN3,missense_variant,p.Phe557Leu,ENST00000451085,NM_001099660.1;LRRN3,missense_variant,p.Phe557Leu,ENST00000422987,NM_018334.4;LRRN3,missense_variant,p.Phe557Leu,ENST00000308478,NM_001099658.1;IMMP2L,intron_variant,,ENST00000405709,NM_032549.3;IMMP2L,intron_variant,,ENST00000331762,NM_001244606.1;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000450877,;IMMP2L,intron_variant,,ENST00000415362,;IMMP2L,intron_variant,,ENST00000437687,;LRRN3,downstream_gene_variant,,ENST00000421101,;IMMP2L,intron_variant,,ENST00000489381,;							MODERATE	1669/2127	F557L	LRRN3_HUMAN			Transcript		benign(0.003)	.	ENSP00000312001		CCDS5754.1			1	
PPIP5K2	0	LGGM	GRCh37	5	102519055	102519055	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	17	21	.	.	ENST00000321521.9:c.3043G>T	p.Val1015Phe	p.V1015F	ENST00000321521		1015	Gtc/Ttc	0	1		UPI0000070504	0	NA	ENST00000358359		ENSG00000145725	29035		38	1.155		HGNC	p.V1015F		PPIP5K2		SNV							ENST00000358359	protein_coding	getma.org/?cm=var&var=hg19,5,102519055,G,T&fts=all		hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750		V/F		T	low	3552/5813		getma.org/?cm=msa&ty=f&p=VIP2_HUMAN&rb=895&re=1094&var=V1015F	tolerated_low_confidence(0.21)	K7EPT7_HUMAN,D6RFG4_HUMAN				PPIP5K2,missense_variant,p.Val1015Phe,ENST00000321521,;PPIP5K2,missense_variant,p.Val1015Phe,ENST00000358359,NM_001281471.1,NM_001276277.1;PPIP5K2,missense_variant,p.Val1015Phe,ENST00000414217,NM_015216.3;PPIP5K2,intron_variant,,ENST00000509597,;PPIP5K2,intron_variant,,ENST00000511022,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000507966,;PPIP5K2,intron_variant,,ENST00000511724,;PPIP5K2,upstream_gene_variant,,ENST00000510672,;							MODERATE	3043/3732	V1015F	VIP2_HUMAN			Transcript		benign(0.367)	.	ENSP00000351126		CCDS64212.1			1	
SBNO2	0	LGGM	GRCh37	19	1110814	1110814	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	24	22	.	.	ENST00000361757.3:c.2958C>G	p.Tyr986Ter	p.Y986*	ENST00000361757	NM_014963.2	986	taC/taG	0	1	1	UPI0000140680	0	NA	ENST00000361757		ENSG00000064932	29158		46	0		HGNC	p.Y986X		SBNO2		SNV							ENST00000361757	protein_coding	getma.org/?cm=var&var=hg19,19,1110814,G,C&fts=all		Pfam_domain:PF13871,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5		Y/*		C	NA	3196/4922		NA		K7ERL2_HUMAN,K7ENA9_HUMAN			YES	SBNO2,stop_gained,p.Tyr986Ter,ENST00000361757,NM_014963.2;SBNO2,stop_gained,p.Tyr976Ter,ENST00000587024,;SBNO2,stop_gained,p.Tyr929Ter,ENST00000438103,NM_001100122.1;GPX4,downstream_gene_variant,,ENST00000354171,NM_001039847.1,NM_002085.3;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000593032,;GPX4,downstream_gene_variant,,ENST00000587648,;SBNO2,non_coding_transcript_exon_variant,,ENST00000587673,;SBNO2,non_coding_transcript_exon_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000592222,;GPX4,downstream_gene_variant,,ENST00000592940,;GPX4,downstream_gene_variant,,ENST00000585480,;GPX4,downstream_gene_variant,,ENST00000587932,;							HIGH	2958/4101	Y986*	SBNO2_HUMAN			Transcript			.	ENSP00000354733		CCDS45894.1			1	
CDC42BPA	0	LGGM	GRCh37	1	227504725	227504726	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H060098	H060098N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	19	24	.	.	ENST00000366769.3:c.158_159insA	p.Leu54SerfsTer8	p.L54Sfs*8	ENST00000366769	NM_003607.3	53	att/atAt	0	1		UPI00017BE78A	0		ENST00000334218		ENSG00000143776	1737		43			HGNC	p.I53fs		CDC42BPA		insertion							ENST00000366769	protein_coding			hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31		I/IX		T		1101-1102/10691				Q9NYF6_HUMAN				CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000366769,NM_003607.3;CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000334218,;CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000366766,;CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000366764,;CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000366767,NM_014826.4;CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000366765,;CDC42BPA,frameshift_variant,p.Leu54SerfsTer8,ENST00000535525,;CDC42BPA,non_coding_transcript_exon_variant,,ENST00000478573,;							HIGH	158-159/5346		MRCKA_HUMAN			Transcript			.	ENSP00000335341					1	
OR8I2	0	LGGM	GRCh37	11	55861580	55861580	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	21	24	.	.	ENST00000302124.2:c.797C>A	p.Ser266Ter	p.S266*	ENST00000302124	NM_001003750.1	266	tCg/tAg	0	1	1	UPI0000041D16	0	NA	ENST00000302124		ENSG00000172154	15310		45	0		HGNC	p.S266X	COSM688704	OR8I2		SNV						1	ENST00000302124	protein_coding	getma.org/?cm=var&var=hg19,11,55861580,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Superfamily_domains:SSF81321		S/*		A	NA	828/1010		NA		H0YLY8_HUMAN			YES	OR8I2,stop_gained,p.Ser266Ter,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;					1		HIGH	797/933	S266*	OR8I2_HUMAN			Transcript			.	ENSP00000303864		CCDS31517.1			1	
NEUROD6	0	LGGM	GRCh37	7	31378641	31378641	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	53	24	.	.	ENST00000297142.3:c.242A>G	p.Lys81Arg	p.K81R	ENST00000297142	NM_022728.3	81	aAa/aGa	0	1	1	UPI000000D77D	0	NA	ENST00000297142		ENSG00000164600	13804		77	2.05		HGNC	p.K81R		NEUROD6		SNV							ENST00000297142	protein_coding	getma.org/?cm=var&var=hg19,7,31378641,T,C&fts=all		PIRSF_domain:PIRSF015618,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF9,Low_complexity_(Seg):seg		K/R		C	medium	565/2131		getma.org/?cm=msa&ty=f&p=NDF6_HUMAN&rb=1&re=94&var=K81R	tolerated(0.33)				YES	NEUROD6,missense_variant,p.Lys81Arg,ENST00000297142,NM_022728.3;							MODERATE	242/1014	K81R	NDF6_HUMAN			Transcript		benign(0.03)	.	ENSP00000297142		CCDS5434.1			1	
BCL6	0	LGGM	GRCh37	3	187451331	187451331	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	30	27	.	.	ENST00000232014.4:c.151A>G	p.Met51Val	p.M51V	ENST00000232014	NM_001130845.1	51	Atg/Gtg	0	1		UPI000012682C	0	getma.org/pdb.php?prot=BCL6_HUMAN&from=22&to=129&var=M51V	ENST00000232014		ENSG00000113916	1001		57	-0.165		HGNC	p.M51V		BCL6		SNV			1				ENST00000438077	protein_coding	getma.org/?cm=var&var=hg19,3,187451331,T,C&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF88,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		M/V		C	neutral	680/2710		getma.org/?cm=msa&ty=f&p=BCL6_HUMAN&rb=22&re=129&var=M51V	tolerated(0.59)	C9JL16_HUMAN,C9JCS5_HUMAN				BCL6,missense_variant,p.Met51Val,ENST00000406870,NM_001706.4;BCL6,missense_variant,p.Met51Val,ENST00000232014,NM_001130845.1;BCL6,missense_variant,p.Met51Val,ENST00000450123,NM_001134738.1;BCL6,missense_variant,p.Met51Val,ENST00000438077,;RP11-211G3.3,missense_variant,p.Met50Thr,ENST00000449623,;BCL6,missense_variant,p.Met51Val,ENST00000430339,;RP11-211G3.3,downstream_gene_variant,,ENST00000437407,;BCL6,non_coding_transcript_exon_variant,,ENST00000480458,;BCL6,downstream_gene_variant,,ENST00000496823,;BCL6,missense_variant,p.Met51Val,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;							MODERATE	151/2121	M51V	BCL6_HUMAN			Transcript		possibly_damaging(0.622)	.	ENSP00000232014		CCDS3289.1			1	
HECTD1	0	LGGM	GRCh37	14	31642489	31642489	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	57	27	.	.	ENST00000399332.1:c.1029T>A	p.Ala343=	p.A343=	ENST00000399332	NM_015382.2	343	gcT/gcA	0	1	1	UPI0000E8AC98	0		ENST00000399332		ENSG00000092148	20157		84			HGNC	p.A343A		HECTD1		SNV							ENST00000399332	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75		A		T		1518/9134				G3V4V5_HUMAN			YES	HECTD1,synonymous_variant,p.=,ENST00000399332,NM_015382.2;HECTD1,synonymous_variant,p.=,ENST00000553700,;HECTD1,synonymous_variant,p.=,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000553957,;HECTD1,non_coding_transcript_exon_variant,,ENST00000554471,;HECTD1,downstream_gene_variant,,ENST00000553616,;							LOW	1029/7833		HECD1_HUMAN			Transcript			.	ENSP00000382269		CCDS41939.1			1	
CEP170	0	LGGM	GRCh37	1	243328036	243328036	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	98	29	.	.	ENST00000366542.1:c.3226T>C	p.Ser1076Pro	p.S1076P	ENST00000366542	NM_014812.2	1076	Tct/Cct	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		127	1.1		HGNC	p.S978P		CEP170		SNV							ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243328036,A,G&fts=all		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,Low_complexity_(Seg):seg		S/P		G	low	3278/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=891&re=1090&var=S1076P	deleterious(0.01)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Ser1076Pro,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Ser978Pro,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Ser978Pro,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Ser1040Pro,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,non_coding_transcript_exon_variant,,ENST00000422938,;RP11-261C10.4,intron_variant,,ENST00000437499,;CEP170,downstream_gene_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;CEP170,downstream_gene_variant,,ENST00000461671,;							MODERATE	3226/4755	S1076P	CE170_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000355500		CCDS44339.1			1	
CBLN4	0	LGGM	GRCh37	20	54573662	54573662	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	38	29	.	.	ENST00000064571.2:c.557G>T	p.Gly186Val	p.G186V	ENST00000064571	NM_080617.5	186	gGa/gTa	0	1	1	UPI0000046135	0	getma.org/pdb.php?prot=CBLN4_HUMAN&from=72&to=198&var=G186V	ENST00000064571		ENSG00000054803	16231		67	3.145		HGNC	p.G186V		CBLN4		SNV							ENST00000064571	protein_coding	getma.org/?cm=var&var=hg19,20,54573662,C,A&fts=all		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF3,hmmpanther:PTHR22923,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842		G/V		A	medium	1858/3024		getma.org/?cm=msa&ty=f&p=CBLN4_HUMAN&rb=72&re=198&var=G186V	deleterious(0)				YES	CBLN4,missense_variant,p.Gly186Val,ENST00000064571,NM_080617.5;							MODERATE	557/606	G186V	CBLN4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000064571		CCDS13448.1			1	
CBLN4	0	LGGM	GRCh37	20	54573663	54573663	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060098	H060098N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	38	29	.	.	ENST00000064571.2:c.556G>T	p.Gly186Ter	p.G186*	ENST00000064571	NM_080617.5	186	Gga/Tga	0	1	1	UPI0000046135	0	NA	ENST00000064571		ENSG00000054803	16231		67	0		HGNC	p.G186X		CBLN4		SNV							ENST00000064571	protein_coding	getma.org/?cm=var&var=hg19,20,54573663,C,A&fts=all		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF3,hmmpanther:PTHR22923,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842		G/*		A	NA	1857/3024		NA					YES	CBLN4,stop_gained,p.Gly186Ter,ENST00000064571,NM_080617.5;							HIGH	556/606	G186*	CBLN4_HUMAN			Transcript			.	ENSP00000064571		CCDS13448.1			1	
IFNE	0	LGGM	GRCh37	9	21481631	21481631	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	33	30	.	.	ENST00000448696.3:c.63T>A	p.Ser21=	p.S21=	ENST00000448696	NM_176891.4	21	tcT/tcA	0	1	1	UPI000000D8A7	0		ENST00000448696		ENSG00000184995	18163		63			HGNC	p.S21S		IFNE		SNV							ENST00000448696	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11691:SF8,hmmpanther:PTHR11691		S		T		682/1472							YES	IFNE,synonymous_variant,p.=,ENST00000448696,NM_176891.4;MIR31HG,intron_variant,,ENST00000304425,;							LOW	63/627		IFNE_HUMAN			Transcript			.	ENSP00000418018		CCDS34997.1			1	
KIAA2018	0	LGGM	GRCh37	3	113379712	113379712	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	26	30	.	.	ENST00000316407.4:c.817A>T	p.Thr273Ser	p.T273S	ENST00000316407	NM_001009899.2	273	Aca/Tca	0	1	1	UPI00004800D8	0	NA	ENST00000316407		ENSG00000176542	30494		56	0.695		HGNC	p.T273S		KIAA2018		SNV							ENST00000478658	protein_coding	getma.org/?cm=var&var=hg19,3,113379712,T,A&fts=all				T/S		A	neutral	1228/13708		getma.org/?cm=msa&ty=f&p=K2018_HUMAN&rb=271&re=470&var=T273S					YES	KIAA2018,missense_variant,p.Thr273Ser,ENST00000316407,NM_001009899.2;KIAA2018,missense_variant,p.Thr273Ser,ENST00000478658,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;							MODERATE	817/6738	T273S	K2018_HUMAN			Transcript		benign(0.008)	.	ENSP00000320794		CCDS43133.1			1	
NSMAF	0	LGGM	GRCh37	8	59520401	59520401	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	18	32	.	.	ENST00000427130.2:c.781-2A>G		p.X261_splice	ENST00000427130	NM_001144772.1			0	1		UPI0000074572	0		ENST00000038176		ENSG00000035681	8017		50			HGNC	-		NSMAF		SNV							ENST00000038176	protein_coding							C		-/3569								NSMAF,splice_acceptor_variant,,ENST00000038176,NM_003580.3;NSMAF,splice_acceptor_variant,,ENST00000427130,NM_001144772.1;NSMAF,splice_acceptor_variant,,ENST00000519858,;							HIGH	688/2754		FAN_HUMAN			Transcript			.	ENSP00000038176		CCDS6173.1			1	
ZNF699	0	LGGM	GRCh37	19	9407452	9407452	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	37	33	.	.	ENST00000591998.1:c.628C>G	p.Leu210Val	p.L210V	ENST00000591998		210	Ctt/Gtt	0	1		UPI00001D825F	0	getma.org/pdb.php?prot=ZN699_HUMAN&from=209&to=233&var=L210V	ENST00000308650		ENSG00000196110	24750		70	3.11		HGNC	p.L210V		ZNF699		SNV							ENST00000591998	protein_coding	getma.org/?cm=var&var=hg19,19,9407452,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF132,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/V		C	medium	628/3129		getma.org/?cm=msa&ty=f&p=ZN699_HUMAN&rb=189&re=253&var=L210V	deleterious(0.05)					ZNF699,missense_variant,p.Leu210Val,ENST00000591998,;ZNF699,missense_variant,p.Leu210Val,ENST00000308650,NM_198535.1;CTC-325H20.4,downstream_gene_variant,,ENST00000591336,;							MODERATE	628/1929	L210V	ZN699_HUMAN			Transcript		possibly_damaging(0.61)	.	ENSP00000311596		CCDS42495.1			1	
SAMD12	0	LGGM	GRCh37	8	119592979	119592979	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	24	34	.	.	ENST00000314727.4:c.167T>A	p.Leu56Gln	p.L56Q	ENST00000314727	NM_207506.2	56	cTg/cAg	0	1	1	UPI000013F8F1	0	NA	ENST00000314727		ENSG00000177570	31750		58	-0.55		HGNC	p.L56Q		SAMD12		SNV							ENST00000445741	protein_coding	getma.org/?cm=var&var=hg19,8,119592979,A,T&fts=all		hmmpanther:PTHR20843,hmmpanther:PTHR20843:SF2,Superfamily_domains:SSF47769		L/Q		T	neutral	304/2172		getma.org/?cm=msa&ty=f&p=SAM12_HUMAN&rb=1&re=73&var=L56Q	tolerated(0.38)	E9PLP5_HUMAN			YES	SAMD12,missense_variant,p.Leu56Gln,ENST00000409003,NM_001101676.1;SAMD12,missense_variant,p.Leu56Gln,ENST00000314727,NM_207506.2;SAMD12,missense_variant,p.Leu53Gln,ENST00000453675,;SAMD12,missense_variant,p.Leu48Gln,ENST00000524796,;SAMD12,missense_variant,p.Leu56Gln,ENST00000526328,;SAMD12,missense_variant,p.Leu71Gln,ENST00000526765,;SAMD12,missense_variant,p.Leu56Gln,ENST00000445741,;							MODERATE	167/606	L56Q	SAM12_HUMAN			Transcript		benign(0.012)	.	ENSP00000314173		CCDS6325.1			1	
UAP1	0	LGGM	GRCh37	1	162560238	162560238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	47	35	.	.	ENST00000367926.4:c.1295G>T	p.Trp432Leu	p.W432L	ENST00000367926	NM_003115.4	432	tGg/tTg	0	1		UPI0000112073	0	getma.org/pdb.php?prot=UAP1_HUMAN&from=44&to=472&var=W432L	ENST00000271469		ENSG00000117143	12457		82	2.42		HGNC	p.W432L		UAP1		SNV							ENST00000367925	protein_coding	getma.org/?cm=var&var=hg19,1,162560238,G,T&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF4,Superfamily_domains:SSF53448		W/L		T	medium	1597/2344		getma.org/?cm=msa&ty=f&p=UAP1_HUMAN&rb=44&re=472&var=W432L	deleterious(0)	B1AR80_HUMAN				UAP1,missense_variant,p.Trp432Leu,ENST00000271469,;UAP1,missense_variant,p.Trp432Leu,ENST00000367926,NM_003115.4;UAP1,missense_variant,p.Trp432Leu,ENST00000367925,;UAP1,missense_variant,p.Trp432Leu,ENST00000367924,;RP11-359K18.4,upstream_gene_variant,,ENST00000609669,;UAP1,downstream_gene_variant,,ENST00000474728,;							MODERATE	1295/1569	W432L	UAP1_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000271469					1	
UAP1	0	LGGM	GRCh37	1	162560239	162560239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	47	36	.	.	ENST00000367926.4:c.1296G>T	p.Trp432Cys	p.W432C	ENST00000367926	NM_003115.4	432	tgG/tgT	0	1		UPI0000112073	0	getma.org/pdb.php?prot=UAP1_HUMAN&from=44&to=472&var=W432C	ENST00000271469		ENSG00000117143	12457		83	3.315		HGNC	p.W432C		UAP1		SNV							ENST00000367925	protein_coding	getma.org/?cm=var&var=hg19,1,162560239,G,T&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF4,Superfamily_domains:SSF53448		W/C		T	medium	1598/2344		getma.org/?cm=msa&ty=f&p=UAP1_HUMAN&rb=44&re=472&var=W432C	deleterious(0)	B1AR80_HUMAN				UAP1,missense_variant,p.Trp432Cys,ENST00000271469,;UAP1,missense_variant,p.Trp432Cys,ENST00000367926,NM_003115.4;UAP1,missense_variant,p.Trp432Cys,ENST00000367925,;UAP1,missense_variant,p.Trp432Cys,ENST00000367924,;RP11-359K18.4,upstream_gene_variant,,ENST00000609669,;UAP1,downstream_gene_variant,,ENST00000474728,;							MODERATE	1296/1569	W432C	UAP1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000271469					1	
RAB3GAP2	0	LGGM	GRCh37	1	220368675	220368675	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	74	45	.	.	ENST00000358951.2:c.1005A>T	p.Ala335=	p.A335=	ENST00000358951	NM_012414.3	335	gcA/gcT	0	1	1	UPI0000072269	0		ENST00000358951		ENSG00000118873	17168		119			HGNC	p.A335A		RAB3GAP2		SNV			1				ENST00000358951	protein_coding			Pfam_domain:PF14655,hmmpanther:PTHR12472		A		A		1122/7257							YES	RAB3GAP2,synonymous_variant,p.=,ENST00000358951,NM_012414.3;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,downstream_gene_variant,,ENST00000237724,;							LOW	1005/4182		RBGPR_HUMAN			Transcript			.	ENSP00000351832		CCDS31028.1			1	
SERTAD4	0	LGGM	GRCh37	1	210415254	210415254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060098	H060098N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	56	56	.	.	ENST00000367012.3:c.643A>G	p.Thr215Ala	p.T215A	ENST00000367012	NM_019605.3	215	Act/Gct	0	1	1	UPI0000070BBE	0	NA	ENST00000367012		ENSG00000082497	25236		112	-0.55		HGNC	p.T215A		SERTAD4		SNV							ENST00000367012	protein_coding	getma.org/?cm=var&var=hg19,1,210415254,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3		T/A		G	neutral	873/5219		getma.org/?cm=msa&ty=f&p=SRTD4_HUMAN&rb=145&re=344&var=T215A	tolerated(0.35)				YES	SERTAD4,missense_variant,p.Thr215Ala,ENST00000367012,NM_019605.3;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;							MODERATE	643/1071	T215A	SRTD4_HUMAN			Transcript		benign(0)	.	ENSP00000355979		CCDS1494.1			1	
DOCK5	0	LGGM	GRCh37	8	25182955	25182955	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060098	H060098N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	68	68	.	.	ENST00000276440.7:c.1795G>A	p.Glu599Lys	p.E599K	ENST00000276440	NM_024940.6	599	Gag/Aag	0	1	1	UPI000022D4F3	0	getma.org/pdb.php?prot=DOCK5_HUMAN&from=438&to=637&var=E599K	ENST00000276440		ENSG00000147459	23476		136	0.55		HGNC	p.E599K		DOCK5		SNV							ENST00000276440	protein_coding	getma.org/?cm=var&var=hg19,8,25182955,G,A&fts=all		Pfam_domain:PF14429,PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68		E/K		A	neutral	1839/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=438&re=637&var=E599K	tolerated(0.74)				YES	DOCK5,missense_variant,p.Glu599Lys,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Glu371Lys,ENST00000444569,;DOCK5,missense_variant,p.Glu6Lys,ENST00000467709,;							MODERATE	1795/5613	E599K	DOCK5_HUMAN			Transcript		benign(0.155)	.	ENSP00000276440		CCDS6047.1			1	
PCLO	0	LGGM	GRCh37	7	82546020	82546020	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	116	71	.	.	ENST00000333891.9:c.11282A>C	p.Lys3761Thr	p.K3761T	ENST00000333891	NM_033026.5	3761	aAg/aCg	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		187	2.005		HGNC	p.K481T		PCLO		SNV			1				ENST00000437081	protein_coding	getma.org/?cm=var&var=hg19,7,82546020,T,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		K/T		G	medium	11620/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=K3692T					YES	PCLO,missense_variant,p.Lys3761Thr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Lys3761Thr,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Lys481Thr,ENST00000437081,;							MODERATE	11282/15429	K3692T	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
DNAH8	0	LGGM	GRCh37	6	38691183	38691183	+	5_prime_UTR_variant	5'UTR	SNP	T	T	C	novel	by Submitter	H060098	H060098N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060098N.bam, H060098T.bam	Illumina HiSeq	105	85	.	.	ENST00000359357.3:c.-106T>C		*36*	ENST00000359357				0	1	1	UPI00003677EB	0	NA	ENST00000359357		ENSG00000124721	2952		190	0.425		HGNC	p.I154T		DNAH8		SNV							ENST00000373278	protein_coding	getma.org/?cm=var&var=hg19,6,38691183,T,C&fts=all						C	neutral	149/13860		getma.org/?cm=msa&ty=f&p=Q8IU65_HUMAN&rb=1&re=200&var=I154T					YES	DNAH8,missense_variant,p.Ile142Thr,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ile154Thr,ENST00000449981,;DNAH8,missense_variant,p.Ile154Thr,ENST00000373278,;DNAH8,5_prime_UTR_variant,,ENST00000359357,;							MODIFIER	-/13473	I154T	DYH8_HUMAN			Transcript			.	ENSP00000352312					1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15221850	15221850	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	7	2	.	.	ENST00000343738.6:n.4179G>A		p.X1393_splice	ENST00000343738				0	1			0		ENST00000605794		ENSG00000270580			9			Clone_based_vega_gene	p.R383Q	rs757102365	RP11-1186N24.5		SNV							ENST00000358815	lincRNA							T		1432/2902	0.000284						YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,splice_region_variant,,ENST00000605794,;PKD1P6,splice_region_variant,,ENST00000424133,;PKD1P6,downstream_gene_variant,,ENST00000540075,;PKD1P6,downstream_gene_variant,,ENST00000546358,;RP11-1186N24.5,upstream_gene_variant,,ENST00000340301,;PKD1P6,splice_region_variant,,ENST00000343738,;NPIPP1,splice_region_variant,,ENST00000448014,;NPIPP1,splice_region_variant,,ENST00000358815,;NPIPP1,upstream_gene_variant,,ENST00000547107,;							LOW						Transcript			.		4.33E-05				1	
NR1I2	0	LGGM	GRCh37	3	119533847	119533847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	21	3	.	.	ENST00000337940.4:c.933G>T	p.Gln311His	p.Q311H	ENST00000337940	NM_022002.2	311	caG/caT	0	1		UPI000013D9B4	0	getma.org/pdb.php?prot=NR1I2_HUMAN&from=223&to=426&var=Q272H	ENST00000393716		ENSG00000144852	7968		24	3.16		HGNC	p.Q311H		NR1I2		SNV							ENST00000337940	protein_coding	getma.org/?cm=var&var=hg19,3,119533847,G,T&fts=all		hmmpanther:PTHR24082:SF39,hmmpanther:PTHR24082,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398		Q/H		T	medium	2655/4417		getma.org/?cm=msa&ty=f&p=NR1I2_HUMAN&rb=223&re=426&var=Q272H	deleterious(0)	J3KPQ3_HUMAN,B3KVM5_HUMAN				NR1I2,missense_variant,p.Gln272His,ENST00000393716,NM_003889.3;NR1I2,missense_variant,p.Gln235His,ENST00000466380,NM_033013.2;NR1I2,missense_variant,p.Gln311His,ENST00000337940,NM_022002.2;NR1I2,non_coding_transcript_exon_variant,,ENST00000493757,;NR1I2,downstream_gene_variant,,ENST00000474090,;							MODERATE	816/1305	Q272H				Transcript		probably_damaging(1)	.	ENSP00000377319		CCDS43136.1			1	
CD93	0	LGGM	GRCh37	20	23065878	23065878	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	33	3	.	.	ENST00000246006.4:c.952G>A	p.Val318Ile	p.V318I	ENST00000246006	NM_012072.3	318	Gtc/Atc	0	1	1	UPI00001273BC	0	NA	ENST00000246006		ENSG00000125810	15855		36	0.755		HGNC	p.V318I	rs140540216,COSM1410768	CD93	7.37E-05	SNV	A:0.0005					0,1	ENST00000246006	protein_coding	getma.org/?cm=var&var=hg19,20,23065878,C,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,Gene3D:3.10.100.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		V/I	A:0.0001	T	neutral	1100/6708		getma.org/?cm=msa&ty=f&p=C1QR1_HUMAN&rb=302&re=344&var=V318I	tolerated(0.56)				YES	CD93,missense_variant,p.Val318Ile,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;					0,1		MODERATE	952/1959	V318I	C1QR1_HUMAN			Transcript		benign(0.001)	.	ENSP00000246006	8.24E-06	CCDS13149.1			1	
SCRN2	0	LGGM	GRCh37	17	45918153	45918153	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	7	3	.	.	ENST00000290216.9:c.57C>G	p.Pro19=	p.P19=	ENST00000290216	NM_001145023.1	19	ccC/ccG	0	1	1	UPI000013DFCB	0		ENST00000290216		ENSG00000141295	30381		10			HGNC	p.P19P		SCRN2		SNV							ENST00000290216	protein_coding			hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF16,Low_complexity_(Seg):seg		P		C		183/1548				J3QR84_HUMAN			YES	SCRN2,synonymous_variant,p.=,ENST00000407215,;SCRN2,synonymous_variant,p.=,ENST00000584123,;SCRN2,synonymous_variant,p.=,ENST00000290216,NM_001145023.1,NM_138355.3;SCRN2,synonymous_variant,p.=,ENST00000578323,;SP6,downstream_gene_variant,,ENST00000536300,NM_001258248.1;SP6,downstream_gene_variant,,ENST00000342234,NM_199262.2;LRRC46,downstream_gene_variant,,ENST00000269025,NM_033413.3;SCRN2,upstream_gene_variant,,ENST00000584567,;SCRN2,synonymous_variant,p.=,ENST00000582459,;SCRN2,synonymous_variant,p.=,ENST00000581645,;SCRN2,synonymous_variant,p.=,ENST00000579856,;SCRN2,synonymous_variant,p.=,ENST00000583090,;SCRN2,non_coding_transcript_exon_variant,,ENST00000581546,;SCRN2,non_coding_transcript_exon_variant,,ENST00000578840,;SCRN2,non_coding_transcript_exon_variant,,ENST00000580428,;LRRC46,downstream_gene_variant,,ENST00000584580,;LRRC46,downstream_gene_variant,,ENST00000579971,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,upstream_gene_variant,,ENST00000582656,;							LOW	57/1278		SCRN2_HUMAN			Transcript			.	ENSP00000290216		CCDS11519.1			1	
PITPNM3	0	LGGM	GRCh37	17	6364807	6364807	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	44	3	.	.	ENST00000262483.8:c.2376G>T	p.Val792=	p.V792=	ENST00000262483	NM_031220.3	792	gtG/gtT	0	1	1	UPI000022A281	0		ENST00000262483		ENSG00000091622	21043		47			HGNC	p.V792V		PITPNM3		SNV			1				ENST00000262483	protein_coding			Gene3D:3.40.50.1000,Pfam_domain:PF08235,hmmpanther:PTHR10658,SMART_domains:SM00775,Superfamily_domains:SSF56784		V		A		2464/7086							YES	PITPNM3,synonymous_variant,p.=,ENST00000262483,NM_031220.3;PITPNM3,synonymous_variant,p.=,ENST00000421306,NM_001165966.1;PITPNM3,synonymous_variant,p.=,ENST00000575201,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000576664,;PITPNM3,non_coding_transcript_exon_variant,,ENST00000572795,;							LOW	2376/2925		PITM3_HUMAN			Transcript			.	ENSP00000262483		CCDS11076.1			1	
HUWE1	0	LGGM	GRCh37	X	53579353	53579353	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	18	3	.	.	ENST00000342160.3:c.8800G>A	p.Ala2934Thr	p.A2934T	ENST00000342160		2934	Gcc/Acc	0	1		UPI00004A0DAC	0	NA	ENST00000262854		ENSG00000086758	30892		21	0.205		HGNC	p.A2934T		HUWE1		SNV			1				ENST00000262854	protein_coding	getma.org/?cm=var&var=hg19,X,53579353,C,T&fts=all		hmmpanther:PTHR11254:SF67,hmmpanther:PTHR11254		A/T		T	neutral	9202/14692		getma.org/?cm=msa&ty=f&p=HUWE1_HUMAN&rb=2869&re=2967&var=A2934T		Q5H963_HUMAN				HUWE1,missense_variant,p.Ala2934Thr,ENST00000342160,;HUWE1,missense_variant,p.Ala2934Thr,ENST00000262854,NM_031407.5;HUWE1,missense_variant,p.Ala1968Thr,ENST00000427052,;HUWE1,upstream_gene_variant,,ENST00000426907,;MIR98,downstream_gene_variant,,ENST00000606724,;MIRLET7F2,downstream_gene_variant,,ENST00000385277,;HUWE1,upstream_gene_variant,,ENST00000474288,;HUWE1,upstream_gene_variant,,ENST00000468322,;							MODERATE	8800/13125	A2934T	HUWE1_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000262854		CCDS35301.1			1	
CD5L	0	LGGM	GRCh37	1	157804533	157804533	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	42	3	.	.	ENST00000368174.4:c.382G>T	p.Glu128Ter	p.E128*	ENST00000368174	NM_005894.2	128	Gag/Tag	0	1	1	UPI000012738C	0	NA	ENST00000368174		ENSG00000073754	1690		45	0		HGNC	p.E128X		CD5L		SNV							ENST00000368174	protein_coding	getma.org/?cm=var&var=hg19,1,157804533,C,A&fts=all		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF246		E/*		A	NA	479/2191		NA					YES	CD5L,stop_gained,p.Glu128Ter,ENST00000368174,NM_005894.2;CD5L,downstream_gene_variant,,ENST00000484609,;							HIGH	382/1044	E128*	CD5L_HUMAN			Transcript			.	ENSP00000357156		CCDS1171.1			1	
TDRD3	0	LGGM	GRCh37	13	61103047	61103047	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	32	3	.	.	ENST00000535286.1:c.1688A>T	p.Lys563Ile	p.K563I	ENST00000535286	NM_001146070.1	563	aAa/aTa	0	1		UPI0000136B58	0	NA	ENST00000196169		ENSG00000083544	20612		35	1.79		HGNC	p.K470I		TDRD3		SNV							ENST00000377881	protein_coding	getma.org/?cm=var&var=hg19,13,61103047,A,T&fts=all		hmmpanther:PTHR13681		K/I		T	low	2197/3019		getma.org/?cm=msa&ty=f&p=TDRD3_HUMAN&rb=431&re=541&var=K470I	deleterious(0.02)	B1AMN9_HUMAN				TDRD3,missense_variant,p.Lys470Ile,ENST00000196169,NM_001146071.1,NM_030794.2;TDRD3,missense_variant,p.Lys563Ile,ENST00000535286,NM_001146070.1;TDRD3,missense_variant,p.Lys470Ile,ENST00000377881,;TDRD3,missense_variant,p.Lys470Ile,ENST00000377894,;TDRD3,upstream_gene_variant,,ENST00000471710,;TDRD3,downstream_gene_variant,,ENST00000484389,;							MODERATE	1409/1956	K470I	TDRD3_HUMAN			Transcript		benign(0.157)	.	ENSP00000196169		CCDS9441.1			1	
PACS2	0	LGGM	GRCh37	14	105843263	105843263	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	10	4	.	.	ENST00000458164.2:c.959+1G>T		p.X320_splice	ENST00000458164	NM_001100913.2			0	1		UPI00001FDD1A	0		ENST00000325438		ENSG00000179364	23794		14			HGNC	-		PACS2		SNV							ENST00000430725	protein_coding							T		-/3708				F8W0V0_HUMAN,F8W0B1_HUMAN				PACS2,splice_donor_variant,,ENST00000447393,NM_015197.3;PACS2,splice_donor_variant,,ENST00000325438,;PACS2,splice_donor_variant,,ENST00000458164,NM_001100913.2;PACS2,splice_donor_variant,,ENST00000430725,NM_001243127.1;PACS2,splice_donor_variant,,ENST00000547217,;PACS2,splice_donor_variant,,ENST00000551692,;PACS2,upstream_gene_variant,,ENST00000547903,;RPS20P33,downstream_gene_variant,,ENST00000476081,;							HIGH	959/2670		PACS2_HUMAN			Transcript			.	ENSP00000321834		CCDS32168.1			1	
PACS2	0	LGGM	GRCh37	14	105843262	105843262	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	10	4	.	.	ENST00000458164.2:c.959G>A	p.Arg320Gln	p.R320Q	ENST00000458164	NM_001100913.2	320	cGg/cAg	0	1		UPI00001FDD1A	0	NA	ENST00000325438		ENSG00000179364	23794		14	1.47		HGNC	p.R320Q		PACS2		SNV							ENST00000458164	protein_coding	getma.org/?cm=var&var=hg19,14,105843262,G,A&fts=all		hmmpanther:PTHR13280,hmmpanther:PTHR13280:SF15		R/Q		A	low	1463/3708		getma.org/?cm=msa&ty=f&p=PACS2_HUMAN&rb=201&re=400&var=R320Q	deleterious(0.01)	F8W0V0_HUMAN,F8W0B1_HUMAN				PACS2,missense_variant,p.Arg320Gln,ENST00000447393,NM_015197.3;PACS2,missense_variant,p.Arg320Gln,ENST00000325438,;PACS2,missense_variant,p.Arg320Gln,ENST00000458164,NM_001100913.2;PACS2,missense_variant,p.Arg245Gln,ENST00000430725,NM_001243127.1;PACS2,missense_variant,p.Arg290Gln,ENST00000547217,;PACS2,splice_region_variant,,ENST00000551692,;PACS2,upstream_gene_variant,,ENST00000547903,;RPS20P33,downstream_gene_variant,,ENST00000476081,;							MODERATE	959/2670	R320Q	PACS2_HUMAN			Transcript		benign(0.397)	.	ENSP00000321834		CCDS32168.1			1	
ADAMTS4	0	LGGM	GRCh37	1	161163111	161163111	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	14	4	.	.	ENST00000367996.5:c.1803A>G	p.Pro601=	p.P601=	ENST00000367996	NM_005099.4	601	ccA/ccG	0	1	1	UPI000014194C	0		ENST00000367996		ENSG00000158859	220		18			HGNC	p.P601P		ADAMTS4		SNV							ENST00000367996	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF38		P		C		2232/9773							YES	ADAMTS4,synonymous_variant,p.=,ENST00000367996,NM_005099.4;ADAMTS4,downstream_gene_variant,,ENST00000367995,;NDUFS2,upstream_gene_variant,,ENST00000496133,;NDUFS2,upstream_gene_variant,,ENST00000479948,;ADAMTS4,downstream_gene_variant,,ENST00000478394,;							LOW	1803/2514		ATS4_HUMAN			Transcript			.	ENSP00000356975		CCDS1223.1			1	
MARVELD2	0	LGGM	GRCh37	5	68737469	68737469	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	37	4	.	.	ENST00000325631.5:c.1665A>T	p.Gln555His	p.Q555H	ENST00000325631	NM_001038603.2	555	caA/caT	0	1	1	UPI00001416EB	0	NA	ENST00000325631		ENSG00000152939	26401		41	1.39		HGNC	p.Q543H		MARVELD2		SNV			1				ENST00000454295	protein_coding	getma.org/?cm=var&var=hg19,5,68737469,A,T&fts=all		hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3		Q/H		T	low	1739/2153		getma.org/?cm=msa&ty=f&p=MALD2_HUMAN&rb=519&re=558&var=Q555H	tolerated_low_confidence(0.07)	D6RAH8_HUMAN,D6RA09_HUMAN			YES	MARVELD2,missense_variant,p.Gln543His,ENST00000454295,;MARVELD2,missense_variant,p.Gln555His,ENST00000325631,NM_001038603.2,NM_001244734.1;MARVELD2,missense_variant,p.Gln439His,ENST00000413223,;MARVELD2,missense_variant,p.Gln439His,ENST00000436532,;MARVELD2,downstream_gene_variant,,ENST00000512803,;							MODERATE	1665/1677	Q555H	MALD2_HUMAN			Transcript		benign(0.003)	.	ENSP00000323264		CCDS34175.1			1	
STK39	0	LGGM	GRCh37	2	168997221	168997221	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	46	4	.	.	ENST00000355999.4:c.676A>T	p.Asn226Tyr	p.N226Y	ENST00000355999	NM_013233.2	226	Aat/Tat	0	1	1	UPI000013D46D	0	getma.org/pdb.php?prot=STK39_HUMAN&from=63&to=337&var=N226Y	ENST00000355999		ENSG00000198648	17717		50	1.29		HGNC	p.N226Y		STK39		SNV							ENST00000355999	protein_coding	getma.org/?cm=var&var=hg19,2,168997221,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		N/Y		A	low	1382/3820		getma.org/?cm=msa&ty=f&p=STK39_HUMAN&rb=63&re=337&var=N226Y	deleterious(0)				YES	STK39,missense_variant,p.Asn226Tyr,ENST00000355999,NM_013233.2;							MODERATE	676/1638	N226Y	STK39_HUMAN			Transcript		benign(0.259)	.	ENSP00000348278		CCDS42770.1			1	
MARK1	0	LGGM	GRCh37	1	220835302	220835302	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	56	4	.	.	ENST00000366917.4:c.2182A>G	p.Asn728Asp	p.N728D	ENST00000366917	NM_001286124.1	728	Aat/Gat	0	1	1	UPI0000048D8B	0	getma.org/pdb.php?prot=MARK1_HUMAN&from=712&to=748&var=N728D	ENST00000366917		ENSG00000116141	6896		60	2.785		HGNC	p.N728D		MARK1		SNV							ENST00000366917	protein_coding	getma.org/?cm=var&var=hg19,1,220835302,A,G&fts=all		Superfamily_domains:SSF103243,Gene3D:3.30.310.80,hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346		N/D		G	medium	2448/2946		getma.org/?cm=msa&ty=f&p=MARK1_HUMAN&rb=712&re=748&var=N728D	deleterious(0)	B4DIB3_HUMAN			YES	MARK1,missense_variant,p.Asn578Asp,ENST00000402574,NM_018650.3,NM_001286126.1;MARK1,missense_variant,p.Asn691Asp,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Asn728Asp,ENST00000366917,NM_001286124.1;RP11-322F10.2,downstream_gene_variant,,ENST00000446040,;							MODERATE	2182/2388	N728D	MARK1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355884		CCDS31029.2			1	
SH2D3C	0	LGGM	GRCh37	9	130536355	130536355	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	11	4	.	.	ENST00000314830.8:c.429A>G	p.Ala143=	p.A143=	ENST00000314830	NM_170600.2	143	gcA/gcG	0	1	1	UPI000006EC87	0		ENST00000314830		ENSG00000095370	16884		15			HGNC	p.A143A		SH2D3C		SNV							ENST00000314830	protein_coding			hmmpanther:PTHR14247:SF6,hmmpanther:PTHR14247		A		C		543/3124				B3KUE2_HUMAN			YES	SH2D3C,synonymous_variant,p.=,ENST00000314830,NM_170600.2;SH2D3C,upstream_gene_variant,,ENST00000373277,NM_005489.3;SH2D3C,non_coding_transcript_exon_variant,,ENST00000471939,;SH2D3C,intron_variant,,ENST00000468969,;							LOW	429/2583		SH2D3_HUMAN			Transcript			.	ENSP00000317817		CCDS6877.1			1	
C20orf194	0	LGGM	GRCh37	20	3234458	3234458	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	17	4	.	.	ENST00000252032.9:c.3335G>A	p.Arg1112His	p.R1112H	ENST00000252032	NM_001009984.2	1112	cGc/cAc	0	1	1	UPI0000470A8D	0	NA	ENST00000252032		ENSG00000088854	17721		21	0		HGNC	p.R1112H	rs376440074	C20orf194		SNV	T:0						ENST00000252032	protein_coding	getma.org/?cm=var&var=hg19,20,3234458,C,T&fts=all				R/H	T:0.0001	T	neutral	3403/6869	1.50E-05	getma.org/?cm=msa&ty=f&p=CT194_HUMAN&rb=1001&re=1177&var=R1112H	tolerated(0.35)	Q3KQR5_HUMAN			YES	C20orf194,missense_variant,p.Arg1112His,ENST00000252032,NM_001009984.2;C20orf194,3_prime_UTR_variant,,ENST00000453730,;							MODERATE	3335/3534	R1112H	CT194_HUMAN			Transcript		benign(0.198)	.	ENSP00000252032	8.28E-06	CCDS42851.1			1	
ERBB2IP	0	LGGM	GRCh37	5	65349406	65349406	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	54	5	.	.	ENST00000506030.1:c.2260G>T	p.Ala754Ser	p.A754S	ENST00000506030		754	Gct/Tct	0	1		UPI000013C941	0	NA	ENST00000284037		ENSG00000112851	15842		59	0		HGNC	p.A754S		ERBB2IP		SNV							ENST00000380935	protein_coding	getma.org/?cm=var&var=hg19,5,65349406,G,T&fts=all				A/S		T	neutral	2649/8647		getma.org/?cm=msa&ty=f&p=LAP2_HUMAN&rb=503&re=1191&var=A754S	tolerated_low_confidence(0.84)					ERBB2IP,missense_variant,p.Ala754Ser,ENST00000284037,NM_001253697.1;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000380939,;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000380936,;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000380935,NM_001006600.2;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000380943,NM_001253699.1,NM_001253701.1,NM_018695.3;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000380938,NM_001253698.1;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000506030,;ERBB2IP,missense_variant,p.Ala754Ser,ENST00000508515,;ERBB2IP,missense_variant,p.Ala750Ser,ENST00000511297,;ERBB2IP,intron_variant,,ENST00000416865,;ERBB2IP,upstream_gene_variant,,ENST00000511671,;ERBB2IP,upstream_gene_variant,,ENST00000503913,;							MODERATE	2260/4239	A754S	LAP2_HUMAN			Transcript		benign(0)	.	ENSP00000284037		CCDS58953.1			1	
NR1D2	0	LGGM	GRCh37	3	24004766	24004766	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	101	5	.	.	ENST00000312521.4:c.1146+670A>G		*382*	ENST00000312521	NM_005126.4			0	1	1	UPI0000209A6C	0		ENST00000312521		ENSG00000174738	7963		106			HGNC	p.I400V	rs551290781	NR1D2		SNV							ENST00000383773	protein_coding		T:0					G		-/5258	1.65E-05				T:0	T:0	YES	NR1D2,intron_variant,,ENST00000312521,NM_005126.4,NM_001145425.1;NR1D2,intron_variant,,ENST00000492552,;NR1D2,missense_variant,p.Ile400Val,ENST00000383773,;NR1D2,downstream_gene_variant,,ENST00000468700,;NR1D2,upstream_gene_variant,,ENST00000472780,;		T:0.0004					MODIFIER	-/1740		NR1D2_HUMAN		T:0	Transcript			.	ENSP00000310006	8.76E-06	CCDS33718.1		T:0.002	1	
GEMIN4	0	LGGM	GRCh37	17	648654	648654	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	26	6	.	.	ENST00000319004.5:c.2629A>G	p.Arg877Gly	p.R877G	ENST00000319004	NM_015721.2	877	Agg/Ggg	0	1	1	UPI000020001F	0	NA	ENST00000319004		ENSG00000179409	15717		32	1.995		HGNC	p.R877G	rs758680820	GEMIN4		SNV							ENST00000319004	protein_coding	getma.org/?cm=var&var=hg19,17,648654,T,C&fts=all		hmmpanther:PTHR15571,hmmpanther:PTHR15571:SF2		R/G		C	medium	2748/3748		getma.org/?cm=msa&ty=f&p=GEMI4_HUMAN&rb=1&re=1056&var=R877G	deleterious(0.03)	I3L4M4_HUMAN,I3L2C7_HUMAN			YES	GEMIN4,missense_variant,p.Arg866Gly,ENST00000576778,;GEMIN4,missense_variant,p.Arg877Gly,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,;FAM57A,downstream_gene_variant,,ENST00000574327,;	0.000117						MODERATE	2629/3177	R877G	GEMI4_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000321706	8.27E-06	CCDS45559.1			1	
RAB12	0	LGGM	GRCh37	18	8636309	8636309	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	19	6	.	.	ENST00000329286.6:c.575A>G	p.Asn192Ser	p.N192S	ENST00000329286	NM_001025300.2	192	aAt/aGt	0	1	1	UPI00002019BA	0	getma.org/pdb.php?prot=RAB12_HUMAN&from=44&to=206&var=N192S	ENST00000329286		ENSG00000206418	31332		25	2.345		HGNC	p.N192S		RAB12		SNV							ENST00000329286	protein_coding	getma.org/?cm=var&var=hg19,18,8636309,A,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF417,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		N/S		G	medium	858/2137		getma.org/?cm=msa&ty=f&p=RAB12_HUMAN&rb=44&re=206&var=N192S	deleterious(0)				YES	RAB12,missense_variant,p.Asn192Ser,ENST00000329286,NM_001025300.2;RP11-661O13.1,non_coding_transcript_exon_variant,,ENST00000580267,;RAB12,downstream_gene_variant,,ENST00000580987,;							MODERATE	575/735	N192S	RAB12_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000331748		CCDS42410.1			1	
NPAS4	0	LGGM	GRCh37	11	66191465	66191465	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	140	6	.	.	ENST00000311034.2:c.1104G>A	p.Gly368=	p.G368=	ENST00000311034	NM_178864.3	368	ggG/ggA	0	1	1	UPI0000074744	0		ENST00000311034		ENSG00000174576	18983		146			HGNC	p.G368G	rs368438519	NPAS4		SNV	A:0						ENST00000311034	protein_coding			hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043		G	A:0.0001	A		1280/3303	6.00E-05						YES	NPAS4,synonymous_variant,p.=,ENST00000311034,NM_178864.3;NPAS4,3_prime_UTR_variant,,ENST00000525148,;NPAS4,downstream_gene_variant,,ENST00000524617,;							LOW	1104/2409		NPAS4_HUMAN			Transcript			.	ENSP00000311196	3.29E-05	CCDS8138.1			1	
CADM4	0	LGGM	GRCh37	19	44129273	44129273	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	16	6	.	.	ENST00000222374.2:c.885T>C	p.Asn295=	p.N295=	ENST00000222374	NM_145296.1	295	aaT/aaC	0	1	1	UPI000004EE93	0		ENST00000222374		ENSG00000105767	30825		22			HGNC	p.N295N		CADM4		SNV							ENST00000222374	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF50,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		N		G		934/2178							YES	CADM4,synonymous_variant,p.=,ENST00000222374,NM_145296.1;CADM4,non_coding_transcript_exon_variant,,ENST00000593506,;							LOW	885/1167		CADM4_HUMAN			Transcript			.	ENSP00000222374		CCDS12627.1			1	
EEFSEC	0	LGGM	GRCh37	3	128126924	128126924	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	10	7	.	.	ENST00000254730.6:c.1613C>G	p.Pro538Arg	p.P538R	ENST00000254730	NM_021937.3	538	cCc/cGc	0	1	1	UPI000013CE58	0	NA	ENST00000254730		ENSG00000132394	24614		17	1.4		HGNC	p.P431A		EEFSEC		SNV							ENST00000483457	protein_coding	getma.org/?cm=var&var=hg19,3,128126924,C,G&fts=all				P/R		G	low	1667/2228		getma.org/?cm=msa&ty=f&p=SELB_HUMAN&rb=505&re=596&var=P538R	deleterious(0.04)				YES	EEFSEC,missense_variant,p.Pro538Arg,ENST00000254730,NM_021937.3;EEFSEC,missense_variant,p.Pro431Ala,ENST00000483457,;							MODERATE	1613/1791	P538R	SELB_HUMAN			Transcript		benign(0.14)	.	ENSP00000254730		CCDS33849.1			1	
OR5T2	0	LGGM	GRCh37	11	56000504	56000504	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	36	7	.	.	ENST00000313264.4:c.158T>C	p.Leu53Pro	p.L53P	ENST00000313264	NM_001004746.1	53	cTg/cCg	0	1	1	UPI0000061E97	0	NA	ENST00000313264		ENSG00000181718	15296		43	3.69		HGNC	p.L53P		OR5T2		SNV							ENST00000313264	protein_coding	getma.org/?cm=var&var=hg19,11,56000504,A,G&fts=all		hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/P		G	high	234/1248		getma.org/?cm=msa&ty=f&p=OR5T2_HUMAN&rb=1&re=177&var=L53P	deleterious(0)				YES	OR5T2,missense_variant,p.Leu53Pro,ENST00000313264,NM_001004746.1;							MODERATE	158/1080	L53P	OR5T2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000323688		CCDS31523.1			1	
ACTC1	0	LGGM	GRCh37	15	35084746	35084746	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	28	7	.	.	ENST00000290378.4:c.479G>T	p.Gly160Val	p.G160V	ENST00000290378	NM_005159.4	160	gGt/gTt	0	1	1	UPI0000003F15	0	getma.org/pdb.php?prot=ACTC_HUMAN&from=4&to=377&var=G160V	ENST00000290378		ENSG00000159251	143		35	4.745		HGNC	p.G160V		ACTC1		SNV			1				ENST00000290378	protein_coding	getma.org/?cm=var&var=hg19,15,35084746,C,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00022,Prints_domain:PR00190,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF176,SMART_domains:SM00268,Superfamily_domains:SSF53067		G/V		A	high	1135/4106		getma.org/?cm=msa&ty=f&p=ACTC_HUMAN&rb=4&re=377&var=G160V	deleterious_low_confidence(0)	B3KPP5_HUMAN			YES	ACTC1,missense_variant,p.Gly160Val,ENST00000290378,NM_005159.4;RP11-814P5.1,intron_variant,,ENST00000503496,;RP11-814P5.1,downstream_gene_variant,,ENST00000558707,;ACTC1,non_coding_transcript_exon_variant,,ENST00000557860,;ACTC1,upstream_gene_variant,,ENST00000560563,;							MODERATE	479/1134	G160V	ACTC_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000290378		CCDS10041.1			1	
POLQ	0	LGGM	GRCh37	3	121206921	121206921	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	162	8	.	.	ENST00000264233.5:c.4857A>G	p.Lys1619=	p.K1619=	ENST00000264233	NM_199420.3	1619	aaA/aaG	0	1	1	UPI0000D61B5F	0		ENST00000264233		ENSG00000051341	9186		170			HGNC	p.K1619K		POLQ		SNV							ENST00000264233	protein_coding					K		C		4986/8775							YES	POLQ,synonymous_variant,p.=,ENST00000264233,NM_199420.3;							LOW	4857/7773		DPOLQ_HUMAN			Transcript			.	ENSP00000264233		CCDS33833.1			1	
LRRC71	0	LGGM	GRCh37	1	156902699	156902699	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	100	8	.	.	ENST00000337428.7:c.1618T>A	p.Leu540Met	p.L540M	ENST00000337428	NM_144702.2	540	Ttg/Atg	0	1	1	UPI00000719B9	0	NA	ENST00000337428		ENSG00000160838	26556		108	0.895		HGNC	p.L540M		LRRC71		SNV							ENST00000337428	protein_coding	getma.org/?cm=var&var=hg19,1,156902699,T,A&fts=all				L/M		A	low	1772/1959		getma.org/?cm=msa&ty=f&p=LRC71_HUMAN&rb=499&re=543&var=L540M	tolerated(0.21)				YES	LRRC71,missense_variant,p.Leu540Met,ENST00000337428,NM_144702.2;ARHGEF11,downstream_gene_variant,,ENST00000368194,NM_198236.2;ARHGEF11,downstream_gene_variant,,ENST00000361409,NM_014784.3;ARHGEF11,downstream_gene_variant,,ENST00000315174,;MIR765,downstream_gene_variant,,ENST00000390226,;LRRC71,non_coding_transcript_exon_variant,,ENST00000490146,;LRRC71,non_coding_transcript_exon_variant,,ENST00000476550,;LRRC71,non_coding_transcript_exon_variant,,ENST00000472465,;ARHGEF11,downstream_gene_variant,,ENST00000487682,;ARHGEF11,downstream_gene_variant,,ENST00000492592,;							MODERATE	1618/1680	L540M	LRC71_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000336661		CCDS44249.1			1	
ADAMTS15	0	LGGM	GRCh37	11	130343116	130343116	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	35	8	.	.	ENST00000299164.2:c.2253G>C	p.Val751=	p.V751=	ENST00000299164	NM_139055.2	751	gtG/gtC	0	1	1	UPI000004F277	0		ENST00000299164		ENSG00000166106	16305		43			HGNC	p.V751V		ADAMTS15		SNV							ENST00000299164	protein_coding			Pfam_domain:PF05986,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF39		V		C		2253/5669							YES	ADAMTS15,synonymous_variant,p.=,ENST00000299164,NM_139055.2;							LOW	2253/2853		ATS15_HUMAN			Transcript			.	ENSP00000299164		CCDS8488.1			1	
RAP1GDS1	0	LGGM	GRCh37	4	99342449	99342449	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	32	8	.	.	ENST00000339360.5:c.1347G>A	p.Glu449=	p.E449=	ENST00000339360		449	gaG/gaA	0	1		UPI000020B1F1	0		ENST00000408927		ENSG00000138698	9859		40			HGNC	p.E448E		RAP1GDS1		SNV							ENST00000408927	protein_coding			hmmpanther:PTHR10957:SF2,hmmpanther:PTHR10957,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		E		A		1457/3681								RAP1GDS1,synonymous_variant,p.=,ENST00000408927,NM_021159.4,NM_001100426.1,NM_001100427.1;RAP1GDS1,synonymous_variant,p.=,ENST00000453712,;RAP1GDS1,synonymous_variant,p.=,ENST00000339360,;RAP1GDS1,synonymous_variant,p.=,ENST00000380158,NM_001100428.1,NM_001100429.1;RAP1GDS1,synonymous_variant,p.=,ENST00000408900,;RAP1GDS1,synonymous_variant,p.=,ENST00000264572,NM_001100430.1;RAP1GDS1,downstream_gene_variant,,ENST00000509501,;							LOW	1344/1824		GDS1_HUMAN			Transcript			.	ENSP00000386153		CCDS43253.1			1	
FBXO32	0	LGGM	GRCh37	8	124553253	124553253	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	20	9	.	.	ENST00000517956.1:c.2T>C	p.Met1?	p.M1?	ENST00000517956	NM_058229.3	1	aTg/aCg	0	1	1	UPI0000034E28	0	NA	ENST00000517956		ENSG00000156804	16731		29	0		HGNC	p.M1T		FBXO32		SNV							ENST00000517956	protein_coding	getma.org/?cm=var&var=hg19,8,124553253,A,G&fts=all				M/T		G	NA	194/6744		http://getma.org/?cm=msa&ty=f&p=FBX32_HUMAN&rb=1&re=200&var=M1T	deleterious(0)	Q498Y9_HUMAN,Q0VAQ6_HUMAN			YES	FBXO32,start_lost,p.Met1?,ENST00000517956,NM_058229.3,NM_148177.2;FBXO32,start_lost,p.Met1?,ENST00000443022,NM_001242463.1;FBXO32,non_coding_transcript_exon_variant,,ENST00000521719,;FBXO32,non_coding_transcript_exon_variant,,ENST00000520511,;							HIGH	2/1068	M1T	FBX32_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000428205		CCDS6345.1			1	
COPB2	0	LGGM	GRCh37	3	139085482	139085482	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	29	9	.	.	ENST00000333188.5:c.1812C>A	p.Ser604Arg	p.S604R	ENST00000333188	NM_004766.2	604	agC/agA	0	1	1	UPI0000161FB4	0	getma.org/pdb.php?prot=COPB2_HUMAN&from=319&to=763&var=S604R	ENST00000333188		ENSG00000184432	2232		38	0.695		HGNC	p.S575R		COPB2		SNV							ENST00000507777	protein_coding	getma.org/?cm=var&var=hg19,3,139085482,G,T&fts=all		PIRSF_domain:PIRSF005567,Pfam_domain:PF04053,hmmpanther:PTHR19876		S/R		T	neutral	1994/3360		getma.org/?cm=msa&ty=f&p=COPB2_HUMAN&rb=319&re=763&var=S604R	deleterious(0.02)	D6RCL6_HUMAN,D6RBZ7_HUMAN,D6RBT6_HUMAN,D6RBG7_HUMAN,B4DZI8_HUMAN			YES	COPB2,missense_variant,p.Ser604Arg,ENST00000333188,NM_004766.2;COPB2,missense_variant,p.Ser575Arg,ENST00000507777,;COPB2,intron_variant,,ENST00000512309,;							MODERATE	1812/2721	S604R	COPB2_HUMAN			Transcript		benign(0.094)	.	ENSP00000329419		CCDS3108.1			1	
CIT	0	LGGM	GRCh37	12	120271893	120271893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	25	9	.	.	ENST00000392521.2:c.656A>G	p.His219Arg	p.H219R	ENST00000392521	NM_001206999.1	219	cAt/cGt	0	1		UPI00001908FD	0	getma.org/pdb.php?prot=CTRO_HUMAN&from=97&to=360&var=H219R	ENST00000261833		ENSG00000122966	1985		34	4.2		HGNC	p.H219R		CIT	6.94E-05	SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120271893,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF038145,Superfamily_domains:SSF56112		H/R		C	high	709/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=97&re=360&var=H219R	deleterious(0)					CIT,missense_variant,p.His219Arg,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.His219Arg,ENST00000261833,NM_007174.2;CIT,intron_variant,,ENST00000536325,;							MODERATE	656/6084	H219R	CTRO_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000261833	8.24E-06	CCDS9192.1			1	
MAN2A2	0	LGGM	GRCh37	15	91450688	91450688	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	27	9	.	.	ENST00000360468.3:c.1159C>G	p.Pro387Ala	p.P387A	ENST00000360468	NM_006122.2	387	Cca/Gca	0	1	1	UPI0000408EF0	0	getma.org/pdb.php?prot=MA2A2_HUMAN&from=167&to=497&var=P387A	ENST00000360468		ENSG00000196547	6825		36	2.17		HGNC	p.P387A		MAN2A2		SNV							ENST00000360468	protein_coding	getma.org/?cm=var&var=hg19,15,91450688,C,G&fts=all		Superfamily_domains:SSF88713,Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607		P/A		G	medium	1177/6268		getma.org/?cm=msa&ty=f&p=MA2A2_HUMAN&rb=167&re=497&var=P387A	deleterious(0.03)	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN			YES	MAN2A2,missense_variant,p.Pro387Ala,ENST00000360468,NM_006122.2;MAN2A2,missense_variant,p.Pro387Ala,ENST00000559717,;MAN2A2,missense_variant,p.Pro72Ala,ENST00000557865,;MAN2A2,missense_variant,p.Cys24Trp,ENST00000560616,;MAN2A2,5_prime_UTR_variant,,ENST00000431652,;MAN2A2,upstream_gene_variant,,ENST00000430376,;MAN2A2,downstream_gene_variant,,ENST00000558290,;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,downstream_gene_variant,,ENST00000558640,;MAN2A2,upstream_gene_variant,,ENST00000561240,;MAN2A2,downstream_gene_variant,,ENST00000560534,;MAN2A2,missense_variant,p.Pro387Ala,ENST00000560451,;MAN2A2,missense_variant,p.Pro387Ala,ENST00000558161,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000560192,;MAN2A2,non_coding_transcript_exon_variant,,ENST00000561046,;MAN2A2,upstream_gene_variant,,ENST00000561448,;MAN2A2,upstream_gene_variant,,ENST00000561047,;MAN2A2,upstream_gene_variant,,ENST00000559374,;MAN2A2,upstream_gene_variant,,ENST00000560505,;							MODERATE	1159/3453	P387A	MA2A2_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000353655		CCDS32332.1			1	
PCDHGB3	0	LGGM	GRCh37	5	140750790	140750790	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	127	10	.	.	ENST00000576222.1:c.829A>G	p.Ile277Val	p.I277V	ENST00000576222	NM_018924.2	277	Atc/Gtc	0	1	1	UPI000006FA6F	0	getma.org/pdb.php?prot=PCDGF_HUMAN&from=247&to=338&var=I277V	ENST00000576222		ENSG00000262209	8710		137	1.14		HGNC	p.I277V		PCDHGB3		SNV							ENST00000576222	protein_coding	getma.org/?cm=var&var=hg19,5,140750790,A,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313		I/V		G	low	960/4727		getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=247&re=338&var=I277V	tolerated(0.42)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB3,missense_variant,p.Ile277Val,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;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;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;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;							MODERATE	829/2790	I277V	PCDGF_HUMAN			Transcript		benign(0.054)	.	ENSP00000461862		CCDS58980.1			1	
MAP4K5	0	LGGM	GRCh37	14	50912809	50912809	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	46	10	.	.	ENST00000013125.4:c.1173C>G	p.Pro391=	p.P391=	ENST00000013125	NM_198794.2	391	ccC/ccG	0	1	1	UPI00015DFDAA	0		ENST00000013125		ENSG00000012983	6867		56			HGNC	p.P391P		MAP4K5		SNV							ENST00000013125	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,PIRSF_domain:PIRSF038172		P		C		1492/4354				G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN			YES	MAP4K5,synonymous_variant,p.=,ENST00000013125,NM_198794.2,NM_006575.4;RP11-406H23.2,upstream_gene_variant,,ENST00000555257,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000554990,;							LOW	1173/2541		M4K5_HUMAN			Transcript			.	ENSP00000013125					1	
BPIFB4	0	LGGM	GRCh37	20	31677348	31677348	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	34	10	.	.	ENST00000375483.3:c.1035G>A	p.Gln345=	p.Q345=	ENST00000375483	NM_182519.2	345	caG/caA	0	1	1	UPI0000206190	0		ENST00000375483		ENSG00000186191	16179		44			HGNC	p.Q345Q		BPIFB4		SNV							ENST00000375483	protein_coding			hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,Gene3D:1ewfA02,SMART_domains:SM00328,Superfamily_domains:SSF55394		Q		A		1035/2159							YES	BPIFB4,synonymous_variant,p.=,ENST00000375483,NM_182519.2;BPIFB4,3_prime_UTR_variant,,ENST00000445356,;							LOW	1035/1845		BPIB4_HUMAN			Transcript			.	ENSP00000364632		CCDS13213.2			1	
SPECC1L	0	LGGM	GRCh37	22	24698219	24698219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	37	11	.	.	ENST00000314328.9:c.20G>T	p.Ser7Ile	p.S7I	ENST00000314328	NM_015330.4	7	aGt/aTt	0	1	1	UPI00001B64E9	0	NA	ENST00000314328		ENSG00000100014	29022		48	1.04		HGNC	p.S7I		SPECC1L		SNV			1				ENST00000437398	protein_coding	getma.org/?cm=var&var=hg19,22,24698219,G,T&fts=all		hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167		S/I		T	low	305/6756		getma.org/?cm=msa&ty=f&p=CYTSA_HUMAN&rb=1&re=886&var=S7I	deleterious(0.04)	C9JLY8_HUMAN,C9J8U1_HUMAN			YES	SPECC1L,missense_variant,p.Ser7Ile,ENST00000314328,NM_015330.4,NM_001254733.1;SPECC1L,missense_variant,p.Ser7Ile,ENST00000437398,NM_001145468.3,NM_001254732.2;SPECC1L,missense_variant,p.Ser7Ile,ENST00000541492,;SPECC1L,missense_variant,p.Ser7Ile,ENST00000421374,;SPECC1L,upstream_gene_variant,,ENST00000440893,;SPECC1L,non_coding_transcript_exon_variant,,ENST00000416735,;SPECC1L-ADORA2A,missense_variant,p.Ser7Ile,ENST00000358654,;							MODERATE	20/3354	S7I	CYTSA_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000325785		CCDS33619.1			1	
TBC1D2	0	LGGM	GRCh37	9	100995753	100995753	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	27	11	.	.	ENST00000375066.5:c.726G>T	p.Gln242His	p.Q242H	ENST00000375066	NM_018421.3	242	caG/caT	0	1			0	NA	ENST00000465784		ENSG00000095383	18026		38	0.69		HGNC	p.Q24H		TBC1D2		SNV							ENST00000342112	processed_transcript	getma.org/?cm=var&var=hg19,9,100995753,C,A&fts=all						A	neutral	-/730		getma.org/?cm=msa&ty=f&p=TBD2A_HUMAN&rb=141&re=588&var=Q242H						TBC1D2,missense_variant,p.Gln242His,ENST00000375066,NM_018421.3;TBC1D2,missense_variant,p.Gln242His,ENST00000375064,NM_001267571.1;TBC1D2,missense_variant,p.Gln24His,ENST00000342112,;TBC1D2,intron_variant,,ENST00000465784,;TBC1D2,upstream_gene_variant,,ENST00000493589,;RP11-270F18.2,upstream_gene_variant,,ENST00000428299,;							MODIFIER		Q242H				Transcript			.						1	
MAPRE2	0	LGGM	GRCh37	18	32681969	32681969	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	42	12	.	.	ENST00000300249.5:c.456A>G	p.Gln152=	p.Q152=	ENST00000300249	NM_014268.3	152	caA/caG	0	1	1	UPI0000072407	0		ENST00000300249		ENSG00000166974	6891		54			HGNC	p.Q58Q	rs370977273	MAPRE2		SNV							ENST00000589180	protein_coding			PROSITE_profiles:PS50021,hmmpanther:PTHR10623:SF7,hmmpanther:PTHR10623,Gene3D:1.10.418.10,Pfam_domain:PF00307,Superfamily_domains:SSF47576		Q		G		636/4265				M0QX52_HUMAN,K7ERD8_HUMAN,K7ENB3_HUMAN,G5E9I6_HUMAN			YES	MAPRE2,synonymous_variant,p.=,ENST00000436190,NM_001143827.2;MAPRE2,synonymous_variant,p.=,ENST00000300249,NM_014268.3;MAPRE2,synonymous_variant,p.=,ENST00000538170,NM_001256420.1;MAPRE2,synonymous_variant,p.=,ENST00000589699,;MAPRE2,synonymous_variant,p.=,ENST00000413393,NM_001143826.2;MAPRE2,synonymous_variant,p.=,ENST00000588910,;MAPRE2,synonymous_variant,p.=,ENST00000591734,;MAPRE2,synonymous_variant,p.=,ENST00000589180,;MAPRE2,synonymous_variant,p.=,ENST00000588349,;MAPRE2,downstream_gene_variant,,ENST00000587359,;							LOW	456/984		MARE2_HUMAN			Transcript			.	ENSP00000300249		CCDS11910.1			1	
COL16A1	0	LGGM	GRCh37	1	32158240	32158240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	18	12	.	.	ENST00000373672.3:c.1117G>T	p.Ala373Ser	p.A373S	ENST00000373672	NM_001856.3	373	Gca/Tca	0	1	1	UPI0000203DD1	0	NA	ENST00000373672		ENSG00000084636	2193		30	0.575		HGNC	p.A373S		COL16A1		SNV							ENST00000373672	protein_coding	getma.org/?cm=var&var=hg19,1,32158240,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372		A/S		A	neutral	1634/5736		getma.org/?cm=msa&ty=f&p=COGA1_HUMAN&rb=371&re=426&var=A373S					YES	COL16A1,missense_variant,p.Ala373Ser,ENST00000373672,NM_001856.3;COL16A1,missense_variant,p.Ala373Ser,ENST00000271069,;COL16A1,missense_variant,p.Ala373Ser,ENST00000373668,;COL16A1,missense_variant,p.Ala92Ser,ENST00000373667,;COL16A1,upstream_gene_variant,,ENST00000482478,;COL16A1,upstream_gene_variant,,ENST00000474000,;COL16A1,upstream_gene_variant,,ENST00000529928,;							MODERATE	1117/4815	A373S	COGA1_HUMAN			Transcript		unknown(0)	.	ENSP00000362776		CCDS41297.1			1	
TMEM141	0	LGGM	GRCh37	9	139686428	139686428	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	24	13	.	.	ENST00000290079.8:c.151T>G	p.Phe51Val	p.F51V	ENST00000290079	NM_032928.3	51	Ttc/Gtc	0	1	1	UPI000006FC94	0	getma.org/pdb.php?prot=TM141_HUMAN&from=1&to=106&var=F51V	ENST00000290079		ENSG00000244187	28211		37	1.43		HGNC	p.F51V		TMEM141		SNV							ENST00000290079	protein_coding	getma.org/?cm=var&var=hg19,9,139686428,T,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR21694,Pfam_domain:PF15110		F/V		G	low	167/768		getma.org/?cm=msa&ty=f&p=TM141_HUMAN&rb=1&re=106&var=F51V	tolerated(0.2)				YES	TMEM141,missense_variant,p.Phe51Val,ENST00000290079,NM_032928.3;RP11-216L13.17,missense_variant,p.Phe26Val,ENST00000456614,;CCDC183,upstream_gene_variant,,ENST00000338005,NM_001039374.4;TMEM141,non_coding_transcript_exon_variant,,ENST00000465017,;TMEM141,non_coding_transcript_exon_variant,,ENST00000483187,;CCDC183,upstream_gene_variant,,ENST00000371682,;TMEM141,non_coding_transcript_exon_variant,,ENST00000484854,;TMEM141,non_coding_transcript_exon_variant,,ENST00000489739,;TMEM141,non_coding_transcript_exon_variant,,ENST00000479737,;CCDC183,upstream_gene_variant,,ENST00000479371,;							MODERATE	151/327	F51V	TM141_HUMAN			Transcript		benign(0.124)	.	ENSP00000290079		CCDS7007.1			1	
BOD1L1	0	LGGM	GRCh37	4	13600901	13600901	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	61	13	.	.	ENST00000040738.5:c.7623T>G	p.Pro2541=	p.P2541=	ENST00000040738	NM_148894.2	2541	ccT/ccG	0	1	1	UPI000066D9E3	0		ENST00000040738		ENSG00000038219	31792		74			HGNC	p.P2541P		BOD1L1		SNV							ENST00000040738	protein_coding			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		P		C		7759/10565							YES	BOD1L1,synonymous_variant,p.=,ENST00000040738,NM_148894.2;							LOW	7623/9156		BD1L1_HUMAN			Transcript			.	ENSP00000040738		CCDS3411.2			1	
PSEN2	0	LGGM	GRCh37	1	227069587	227069587	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	33	14	.	.	ENST00000366783.3:c.-20-2A>T		p.X7_splice	ENST00000366783	NM_000447.2			0	1	1	UPI0000049EDA	0		ENST00000366783		ENSG00000143801	9509		47			HGNC	-		PSEN2		SNV			1				ENST00000366782	protein_coding							T		-/2302				E5RJM5_HUMAN,E5RHT1_HUMAN,E5RG63_HUMAN,E5RFW4_HUMAN,B4DVM3_HUMAN			YES	PSEN2,splice_acceptor_variant,,ENST00000366782,;PSEN2,splice_acceptor_variant,,ENST00000366783,NM_000447.2,NM_012486.2;PSEN2,splice_acceptor_variant,,ENST00000340188,;PSEN2,splice_acceptor_variant,,ENST00000391872,;PSEN2,splice_acceptor_variant,,ENST00000422240,;PSEN2,splice_acceptor_variant,,ENST00000524196,;PSEN2,splice_acceptor_variant,,ENST00000495488,;PSEN2,intron_variant,,ENST00000460775,;PSEN2,upstream_gene_variant,,ENST00000472139,;PSEN2,upstream_gene_variant,,ENST00000496965,;							HIGH	-/1347		PSN2_HUMAN			Transcript			.	ENSP00000355747		CCDS1556.1			1	
TENM3	0	LGGM	GRCh37	4	183635361	183635361	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	27	14	.	.	ENST00000511685.1:c.2343C>A	p.Cys781Ter	p.C781*	ENST00000511685		781	tgC/tgA	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		41	0		HGNC	p.C781X		TENM3		SNV			1				ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183635361,C,A&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10		C/*		A	NA	2466/10896		NA		G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,stop_gained,p.Cys781Ter,ENST00000511685,;TENM3,stop_gained,p.Cys781Ter,ENST00000406950,NM_001080477.1;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;							HIGH	2343/8100	C781*	TEN3_HUMAN			Transcript			.	ENSP00000424226		CCDS47165.1			1	
PLEKHA2	0	LGGM	GRCh37	8	38801306	38801306	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	18	15	.	.	ENST00000420274.1:c.199-1G>C		p.X67_splice	ENST00000420274	NM_021623.1			0	1	1	UPI0001596C50	0		ENST00000420274		ENSG00000169499	14336		33			HGNC	-		PLEKHA2		SNV							ENST00000420274	protein_coding							C		-/5638				E5RGP3_HUMAN,A8K727_HUMAN			YES	PLEKHA2,splice_acceptor_variant,,ENST00000420274,NM_021623.1;PLEKHA2,splice_acceptor_variant,,ENST00000521746,;PLEKHA2,splice_acceptor_variant,,ENST00000519640,;PLEKHA2,splice_acceptor_variant,,ENST00000388745,;PLEKHA2,splice_acceptor_variant,,ENST00000518571,;PLEKHA2,intron_variant,,ENST00000521784,;							HIGH	199/1278		PKHA2_HUMAN			Transcript			.	ENSP00000393860					1	
LPP	0	LGGM	GRCh37	3	188426084	188426084	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	35	15	.	.	ENST00000312675.4:c.1143G>T	p.Ser381=	p.S381=	ENST00000312675	NM_005578.3	381	tcG/tcT	0	1	1	UPI000002E034	0		ENST00000312675		ENSG00000145012	6679		50			HGNC	p.S381S		LPP		SNV							ENST00000448637	protein_coding			hmmpanther:PTHR24207,hmmpanther:PTHR24207:SF0		S		T		1389/18278				C9JT42_HUMAN,C9JIY7_HUMAN,C9JE51_HUMAN,C9J5C8_HUMAN,C9J4E3_HUMAN,C9J3U9_HUMAN,C9J2R5_HUMAN,C9J1K7_HUMAN,B7Z871_HUMAN			YES	LPP,synonymous_variant,p.=,ENST00000312675,NM_005578.3,NM_001167672.1;LPP,synonymous_variant,p.=,ENST00000543006,NM_001167671.1,NM_001167672.1;LPP,synonymous_variant,p.=,ENST00000448637,;LPP,synonymous_variant,p.=,ENST00000415906,;LPP,non_coding_transcript_exon_variant,,ENST00000471917,;							LOW	1143/1839		LPP_HUMAN			Transcript			.	ENSP00000318089		CCDS3291.1			1	
GABRG1	0	LGGM	GRCh37	4	46060310	46060310	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	28	15	.	.	ENST00000295452.4:c.840A>T	p.Pro280=	p.P280=	ENST00000295452	NM_173536.3	280	ccA/ccT	0	1	1	UPI0000047AE2	0		ENST00000295452		ENSG00000163285	4086	8.75E-05	43			HGNC	p.P280P	rs368244440	GABRG1		SNV	C:0.0002						ENST00000295452	protein_coding			Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		P	C:0	A		1008/6785							YES	GABRG1,synonymous_variant,p.=,ENST00000295452,NM_173536.3;							LOW	840/1398		GBRG1_HUMAN			Transcript			.	ENSP00000295452	8.24E-06	CCDS3470.1			1	
TRANK1	0	LGGM	GRCh37	3	36873820	36873820	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	118	16	.	.	ENST00000429976.2:c.7122C>T	p.Tyr2374=	p.Y2374=	ENST00000429976		2374	taC/taT	0	1	1	UPI00017BE82B	0		ENST00000429976		ENSG00000168016	29011		134			HGNC	p.Y1824Y		TRANK1		SNV							ENST00000301807	protein_coding			hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529		Y		A		7370/10481				B7WP88_HUMAN			YES	TRANK1,synonymous_variant,p.=,ENST00000429976,;TRANK1,synonymous_variant,p.=,ENST00000301807,NM_014831.2;TRANK1,synonymous_variant,p.=,ENST00000428977,;							LOW	7122/8778		TRNK1_HUMAN			Transcript			.	ENSP00000416168		CCDS46789.2			1	
EFNA5	0	LGGM	GRCh37	5	106762981	106762981	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	54	18	.	.	ENST00000333274.6:c.355C>T	p.Gln119Ter	p.Q119*	ENST00000333274	NM_001962.2	119	Cag/Tag	0	1	1	UPI0000129C93	0	NA	ENST00000333274		ENSG00000184349	3225		72	0		HGNC	p.Q119X		EFNA5		SNV							ENST00000333274	protein_coding	getma.org/?cm=var&var=hg19,5,106762981,G,A&fts=all		Prints_domain:PR01347,Superfamily_domains:SSF49503,Gene3D:2.60.40.420,Pfam_domain:PF00812,PROSITE_patterns:PS01299,hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF33,PROSITE_profiles:PS51551		Q/*		A	NA	637/5335		NA					YES	EFNA5,stop_gained,p.Gln119Ter,ENST00000333274,NM_001962.2;EFNA5,stop_gained,p.Gln119Ter,ENST00000509503,;EFNA5,non_coding_transcript_exon_variant,,ENST00000505499,;EFNA5,non_coding_transcript_exon_variant,,ENST00000504941,;							HIGH	355/687	Q119*	EFNA5_HUMAN			Transcript			.	ENSP00000328777		CCDS4097.1			1	
TCTN3	0	LGGM	GRCh37	10	97440304	97440304	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	61	19	.	.	ENST00000371217.5:c.1515A>G	p.Ala505=	p.A505=	ENST00000371217		505	gcA/gcG	0	1	1	UPI000004BA6E	0		ENST00000371217		ENSG00000119977	24519		80			HGNC	p.A505A		TCTN3		SNV			1				ENST00000265993	protein_coding			hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF4		A		C		1539/2514							YES	TCTN3,synonymous_variant,p.=,ENST00000265993,NM_015631.5;TCTN3,synonymous_variant,p.=,ENST00000371217,;TCTN3,synonymous_variant,p.=,ENST00000430368,NM_001143973.1;TCTN3,downstream_gene_variant,,ENST00000371209,;							LOW	1515/1824					Transcript			.	ENSP00000360261		CCDS31258.2			1	
IQGAP3	0	LGGM	GRCh37	1	156518231	156518231	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	28	20	.	.	ENST00000361170.2:c.2042A>G	p.Tyr681Cys	p.Y681C	ENST00000361170	NM_178229.4	681	tAc/tGc	0	1	1	UPI000046FFDD	0	NA	ENST00000361170		ENSG00000183856	20669		48	2.545		HGNC	p.Y681C		IQGAP3		SNV							ENST00000361170	protein_coding	getma.org/?cm=var&var=hg19,1,156518231,T,C&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10		Y/C		C	medium	2053/5988		getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=550&re=731&var=Y681C	deleterious(0.03)	F2Z2E2_HUMAN			YES	IQGAP3,missense_variant,p.Tyr681Cys,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Tyr638Cys,ENST00000491900,;							MODERATE	2042/4896	Y681C	IQGA3_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000354451		CCDS1144.1			1	
KMT2D	0	LGGM	GRCh37	12	49438204	49438204	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	60	20	.	.	ENST00000301067.7:c.5065C>G	p.Arg1689Gly	p.R1689G	ENST00000301067	NM_003482.3	1689	Cgt/Ggt	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		80	2.01		HGNC	p.R1689G		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49438204,G,C&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Low_complexity_(Seg):seg		R/G		C	medium	5065/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=1678&re=1877&var=R1689G		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Arg1689Gly,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000550356,;							MODERATE	5065/16614	R1689G	KMT2D_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000301067		CCDS44873.1			1	
MAP3K8	0	LGGM	GRCh37	10	30727884	30727884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	40	21	.	.	ENST00000263056.1:c.17C>T	p.Thr6Ile	p.T6I	ENST00000263056	NM_001244134.1	6	aCt/aTt	0	1	1	UPI000013D395	0	NA	ENST00000263056		ENSG00000107968	6860		61	0.695		HGNC	p.T6I		MAP3K8		SNV							ENST00000375321	protein_coding	getma.org/?cm=var&var=hg19,10,30727884,C,T&fts=all		hmmpanther:PTHR24361:SF94,hmmpanther:PTHR24361,PIRSF_domain:PIRSF038171		T/I		T	neutral	713/3096		getma.org/?cm=msa&ty=f&p=M3K8_HUMAN&rb=1&re=139&var=T6I	deleterious_low_confidence(0)	Q5T857_HUMAN,Q5T853_HUMAN			YES	MAP3K8,missense_variant,p.Thr6Ile,ENST00000263056,NM_001244134.1,NM_005204.3;MAP3K8,missense_variant,p.Thr6Ile,ENST00000375321,;MAP3K8,missense_variant,p.Thr6Ile,ENST00000542547,;MAP3K8,missense_variant,p.Thr6Ile,ENST00000415139,;MAP3K8,missense_variant,p.Thr6Ile,ENST00000375322,;MAP3K8,missense_variant,p.Thr6Ile,ENST00000413724,;MAP3K8,upstream_gene_variant,,ENST00000430603,;							MODERATE	17/1404	T6I	M3K8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000263056		CCDS7166.1			1	
TP63	0	LGGM	GRCh37	3	189597884	189597884	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	150	22	.	.	ENST00000264731.3:c.1350-6299G>C		*450*	ENST00000264731	NM_003722.4			0	1	1	UPI0000073CF2	0		ENST00000264731		ENSG00000073282	15979		172			HGNC	p.V461L		TP63		SNV			1				ENST00000418709	protein_coding							C		-/4909							YES	TP63,missense_variant,p.Val461Leu,ENST00000418709,NM_001114979.1;TP63,missense_variant,p.Val367Leu,ENST00000437221,NM_001114982.1;TP63,intron_variant,,ENST00000264731,NM_003722.4,NM_001114978.1;TP63,intron_variant,,ENST00000354600,NM_001114981.1,NM_001114980.1;TP63,intron_variant,,ENST00000382063,;TP63,intron_variant,,ENST00000320472,;TP63,intron_variant,,ENST00000440651,;TP63,intron_variant,,ENST00000456148,;TP63,intron_variant,,ENST00000392460,;TP63,intron_variant,,ENST00000449992,;TP63,intron_variant,,ENST00000392463,;TP63,intron_variant,,ENST00000392461,;							MODIFIER	-/2043		P63_HUMAN			Transcript			.	ENSP00000264731		CCDS3293.1			1	
CD72	0	LGGM	GRCh37	9	35612958	35612958	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	49	25	.	.	ENST00000396757.1:c.721C>A	p.Gln241Lys	p.Q241K	ENST00000396757		241	Cag/Aag	0	1		UPI00001273AA	0	getma.org/pdb.php?prot=CD72_HUMAN&from=232&to=352&var=Q241K	ENST00000259633		ENSG00000137101	1696		74	1.2		HGNC	p.Q241K		CD72		SNV							ENST00000396757	protein_coding	getma.org/?cm=var&var=hg19,9,35612958,G,T&fts=all		Superfamily_domains:SSF56436,SMART_domains:SM00034,Gene3D:3.10.100.10,hmmpanther:PTHR15028,PROSITE_profiles:PS50041		Q/K		T	low	845/1548		getma.org/?cm=msa&ty=f&p=CD72_HUMAN&rb=232&re=352&var=Q241K	tolerated(0.17)	Q5TLG3_HUMAN				CD72,missense_variant,p.Gln241Lys,ENST00000396757,;CD72,missense_variant,p.Gln241Lys,ENST00000259633,NM_001782.2;TESK1,downstream_gene_variant,,ENST00000336395,NM_006285.2;CD72,downstream_gene_variant,,ENST00000378431,;CD72,downstream_gene_variant,,ENST00000378430,;MIR4667,downstream_gene_variant,,ENST00000578933,;CD72,non_coding_transcript_exon_variant,,ENST00000490239,;TESK1,downstream_gene_variant,,ENST00000498522,;CD72,downstream_gene_variant,,ENST00000470387,;CD72,downstream_gene_variant,,ENST00000463720,;TESK1,downstream_gene_variant,,ENST00000467424,;CD72,downstream_gene_variant,,ENST00000477364,;CD72,downstream_gene_variant,,ENST00000465754,;TESK1,downstream_gene_variant,,ENST00000463897,;CD72,downstream_gene_variant,,ENST00000482121,;TESK1,downstream_gene_variant,,ENST00000480077,;							MODERATE	721/1080	Q241K	CD72_HUMAN			Transcript		benign(0.041)	.	ENSP00000259633		CCDS6581.1			1	
MAP3K7	0	LGGM	GRCh37	6	91228277	91228277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	42	25	.	.	ENST00000369329.3:c.1529T>C	p.Leu510Pro	p.L510P	ENST00000369329	NM_145331.2	510	cTa/cCa	0	1	1	UPI000012EAD6	0	NA	ENST00000369329		ENSG00000135341	6859		67	2.11		HGNC	p.L483P		MAP3K7		SNV							ENST00000369332	protein_coding	getma.org/?cm=var&var=hg19,6,91228277,A,G&fts=all		PIRSF_domain:PIRSF038168,hmmpanther:PTHR26392		L/P		G	medium	1691/4911		getma.org/?cm=msa&ty=f&p=M3K7_HUMAN&rb=364&re=604&var=L510P	deleterious(0)				YES	MAP3K7,missense_variant,p.Leu510Pro,ENST00000369329,NM_145331.2;MAP3K7,missense_variant,p.Leu483Pro,ENST00000369332,NM_003188.3;MAP3K7,missense_variant,p.Leu164Pro,ENST00000369320,;MAP3K7,intron_variant,,ENST00000369325,NM_145332.2;MAP3K7,intron_variant,,ENST00000369327,NM_145333.2;MAP3K7,non_coding_transcript_exon_variant,,ENST00000479630,;							MODERATE	1529/1821	L510P	M3K7_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000358335		CCDS5028.1			1	
ADAM2	0	LGGM	GRCh37	8	39624770	39624770	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	68	26	.	.	ENST00000265708.4:c.1213G>T	p.Asp405Tyr	p.D405Y	ENST00000265708	NM_001464.4	405	Gat/Tat	0	1	1	UPI00001254C2	0	getma.org/pdb.php?prot=ADAM2_HUMAN&from=393&to=471&var=D405Y	ENST00000265708		ENSG00000104755	198		94	1.065		HGNC	p.D386Y		ADAM2		SNV							ENST00000347580	protein_coding	getma.org/?cm=var&var=hg19,8,39624770,C,A&fts=all		Pfam_domain:PF00200,PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF108,SMART_domains:SM00050,Superfamily_domains:SSF57552		D/Y		A	low	1317/2672		getma.org/?cm=msa&ty=f&p=ADAM2_HUMAN&rb=393&re=471&var=D405Y	deleterious(0.01)				YES	ADAM2,missense_variant,p.Asp405Tyr,ENST00000265708,NM_001464.4,NM_001278114.1;ADAM2,missense_variant,p.Asp386Tyr,ENST00000347580,NM_001278113.1;ADAM2,missense_variant,p.Asp279Tyr,ENST00000379853,;ADAM2,missense_variant,p.Asp405Tyr,ENST00000521880,;ADAM2,splice_region_variant,,ENST00000520434,;							MODERATE	1213/2208	D405Y	ADAM2_HUMAN			Transcript		benign(0.389)	.	ENSP00000265708		CCDS34884.1			1	
COL7A1	0	LGGM	GRCh37	3	48623166	48623166	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	111	28	.	.	ENST00000328333.8:c.3788G>T	p.Gly1263Val	p.G1263V	ENST00000328333	NM_000094.3	1263	gGc/gTc	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		139	3.955		HGNC	p.G1263V		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48623166,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023		G/V		A	high	3896/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=1251&re=1310&var=G1263V					YES	COL7A1,missense_variant,p.Gly1263Val,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Gly1263Val,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000487017,;							MODERATE	3788/8835	G1263V	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
GRIN2A	0	LGGM	GRCh37	16	9858695	9858695	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	50	32	.	.	ENST00000330684.3:c.2706A>C	p.Lys902Asn	p.K902N	ENST00000330684	NM_001134407.1	902	aaA/aaC	0	1		UPI000000D7AB	0	NA	ENST00000330684		ENSG00000183454	4585		82	2.51		HGNC	p.K902N		GRIN2A		SNV			1				ENST00000396575	protein_coding	getma.org/?cm=var&var=hg19,16,9858695,T,G&fts=all		Pfam_domain:PF10565,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Low_complexity_(Seg):seg		K/N		G	medium	3254/5031		getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=839&re=1464&var=K902N	deleterious(0)	Q547U9_HUMAN				GRIN2A,missense_variant,p.Lys902Asn,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Lys902Asn,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Lys902Asn,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Lys902Asn,ENST00000562109,;GRIN2A,missense_variant,p.Lys902Asn,ENST00000396575,;GRIN2A,missense_variant,p.Lys745Asn,ENST00000535259,;GRIN2A,downstream_gene_variant,,ENST00000463531,;GRIN2A,upstream_gene_variant,,ENST00000461292,;							MODERATE	2706/4395	K902N	NMDE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332549		CCDS10539.1			1	
DMBT1	0	LGGM	GRCh37	10	124390671	124390671	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	77	37	.	.	ENST00000368909.3:c.5833T>C	p.Ser1945Pro	p.S1945P	ENST00000368909	NM_007329.2	1945	Tct/Cct	0	1		UPI000047021C	0	getma.org/pdb.php?prot=DMBT1_HUMAN&from=1889&to=1986&var=S1945P	ENST00000338354		ENSG00000187908	2926		114	2.76		HGNC	p.S1317P		DMBT1		SNV			1				ENST00000339712	protein_coding	getma.org/?cm=var&var=hg19,10,124390671,T,C&fts=all		Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,PROSITE_profiles:PS50287		S/P		C	medium	5939/7686		getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=1889&re=1986&var=S1945P	deleterious(0.03)	B6V682_HUMAN				DMBT1,missense_variant,p.Ser1945Pro,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Ser1945Pro,ENST00000338354,;DMBT1,missense_variant,p.Ser1935Pro,ENST00000344338,;DMBT1,missense_variant,p.Ser1935Pro,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Ser1317Pro,ENST00000368956,NM_004406.2;DMBT1,missense_variant,p.Ser1317Pro,ENST00000330163,;DMBT1,missense_variant,p.Ser665Pro,ENST00000359586,;							MODERATE	5833/7242	S1945P	DMBT1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000342210					1	
IGSF10	0	LGGM	GRCh37	3	151171525	151171525	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060115	H060115N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	82	40	.	.	ENST00000282466.3:c.362A>C	p.Gln121Pro	p.Q121P	ENST00000282466	NM_178822.4	121	cAg/cCg	0	1	1	UPI00001D629A	0	getma.org/pdb.php?prot=IGS10_HUMAN&from=107&to=165&var=Q121P	ENST00000282466		ENSG00000152580	26384		122	-0.27		HGNC	p.Q121P		IGSF10		SNV							ENST00000282466	protein_coding	getma.org/?cm=var&var=hg19,3,151171525,T,G&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		Q/P		G	neutral	362/11067		getma.org/?cm=msa&ty=f&p=IGS10_HUMAN&rb=107&re=165&var=Q121P	deleterious(0)				YES	IGSF10,missense_variant,p.Gln121Pro,ENST00000282466,NM_178822.4,NM_001178145.1,NM_001178146.1;							MODERATE	362/7872	Q121P	IGS10_HUMAN			Transcript		possibly_damaging(0.697)	.	ENSP00000282466		CCDS3160.1			1	
WDR49	0	LGGM	GRCh37	3	167272536	167272536	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	92	42	.	.	ENST00000308378.3:c.702T>A	p.Asp234Glu	p.D234E	ENST00000308378	NM_178824.3	234	gaT/gaA	0	1	1	UPI00000746AD	0	NA	ENST00000308378		ENSG00000174776	26587		134	-0.085		HGNC	p.D234E		WDR49		SNV							ENST00000308378	protein_coding	getma.org/?cm=var&var=hg19,3,167272536,A,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294		D/E		T	neutral	1008/2594		getma.org/?cm=msa&ty=f&p=WDR49_HUMAN&rb=221&re=276&var=D234E	tolerated(0.33)				YES	WDR49,missense_variant,p.Asp234Glu,ENST00000308378,NM_178824.3;WDR49,missense_variant,p.Asp299Glu,ENST00000472600,;WDR49,missense_variant,p.Asp287Glu,ENST00000453925,;WDR49,missense_variant,p.Asp59Glu,ENST00000476376,;WDR49,intron_variant,,ENST00000479765,;WDR49,downstream_gene_variant,,ENST00000466760,;WDR49,intron_variant,,ENST00000460448,;							MODERATE	702/2094	D234E	WDR49_HUMAN			Transcript		benign(0.025)	.	ENSP00000311343		CCDS3201.1			1	
TUBB4A	0	LGGM	GRCh37	19	6495380	6495380	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060115	H060115N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	85	46	.	.	ENST00000264071.2:c.1130T>A	p.Leu377Gln	p.L377Q	ENST00000264071		377	cTg/cAg	0	1	1	UPI000005FC27	0	getma.org/pdb.php?prot=TBB4A_HUMAN&from=201&to=400&var=L377Q	ENST00000264071		ENSG00000104833	20774		131	3.825		HGNC	p.L377Q		TUBB4A		SNV			1				ENST00000264071	protein_coding	getma.org/?cm=var&var=hg19,19,6495380,A,T&fts=all		Gene3D:1.10.287.600,Pfam_domain:PF03953,Prints_domain:PR01161,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF58,SMART_domains:SM00865,Superfamily_domains:SSF55307		L/Q		T	high	1502/2552		getma.org/?cm=msa&ty=f&p=TBB4A_HUMAN&rb=201&re=400&var=L377Q	deleterious_low_confidence(0)	M0R1I1_HUMAN,M0QY85_HUMAN			YES	TUBB4A,missense_variant,p.Leu377Gln,ENST00000264071,;TUBB4A,missense_variant,p.Leu377Gln,ENST00000540257,NM_006087.2;TUBB4A,downstream_gene_variant,,ENST00000597686,;TUBB4A,downstream_gene_variant,,ENST00000601152,;TUBB4A,downstream_gene_variant,,ENST00000594075,;TUBB4A,downstream_gene_variant,,ENST00000598006,;TUBB4A,downstream_gene_variant,,ENST00000598635,;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,;							MODERATE	1130/1335	L377Q	TBB4A_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000264071		CCDS12168.1			1	
IKZF4	0	LGGM	GRCh37	12	56427011	56427011	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060115	H060115N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	96	53	.	.	ENST00000262032.5:c.903C>T	p.Ser301=	p.S301=	ENST00000262032		301	tcC/tcT	0	1	1	UPI000022946D	0		ENST00000262032		ENSG00000123411	13179		149			HGNC	p.S199S		IKZF4		SNV							ENST00000431367	protein_coding			hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF28		S		T		1270/5229				G5E9S4_HUMAN			YES	IKZF4,synonymous_variant,p.=,ENST00000262032,;IKZF4,synonymous_variant,p.=,ENST00000431367,;IKZF4,synonymous_variant,p.=,ENST00000547167,NM_022465.3;IKZF4,synonymous_variant,p.=,ENST00000547791,;RP11-603J24.4,intron_variant,,ENST00000551846,;IKZF4,downstream_gene_variant,,ENST00000548601,;IKZF4,3_prime_UTR_variant,,ENST00000551103,;IKZF4,non_coding_transcript_exon_variant,,ENST00000551124,;IKZF4,non_coding_transcript_exon_variant,,ENST00000547556,;							LOW	903/1758		IKZF4_HUMAN			Transcript			.	ENSP00000262032		CCDS44917.1			1	
TTLL6	0	LGGM	GRCh37	17	46863548	46863548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060115	H060115N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060115N.bam, H060115T.bam	Illumina HiSeq	154	61	.	.	ENST00000393382.3:c.1739C>A	p.Ala580Asp	p.A580D	ENST00000393382	NM_001130918.1	580	gCc/gAc	0	1	1	UPI00017BCE80	0	NA	ENST00000393382		ENSG00000170703	26664		215	0.755		HGNC	p.A580D		TTLL6		SNV							ENST00000393382	protein_coding	getma.org/?cm=var&var=hg19,17,46863548,G,T&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF96,Low_complexity_(Seg):seg		A/D		T	neutral	1881/3551		getma.org/?cm=msa&ty=f&p=TTLL6_HUMAN&rb=502&re=841&var=A532D	tolerated(0.11)	D3DTW0_HUMAN,C9JMG1_HUMAN			YES	TTLL6,missense_variant,p.Ala580Asp,ENST00000393382,NM_001130918.1;TTLL6,missense_variant,p.Ala273Asp,ENST00000433608,NM_173623.3;TTLL6,3_prime_UTR_variant,,ENST00000376681,;TTLL6,3_prime_UTR_variant,,ENST00000416950,;TTLL6,non_coding_transcript_exon_variant,,ENST00000490027,;TTLL6,downstream_gene_variant,,ENST00000424018,;							MODERATE	1739/2676	A532D	TTLL6_HUMAN			Transcript		benign(0.006)	.	ENSP00000377043		CCDS45724.1			1	
TPTE2	0	LGGM	GRCh37	13	19999954	19999955	+	intron_variant	Intron	INS	-	-	GC	novel	by Submitter	H060203	H060203N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	2	1	.	.	ENST00000400230.2:c.1395+610_1395+611insGC		*465*	ENST00000400230				0	1	1	UPI000040738D	0		ENST00000400230		ENSG00000132958	17299		3			HGNC	p.Q310fs		TPTE2		insertion							ENST00000462409	protein_coding							GC		-/1793							YES	TPTE2,intron_variant,,ENST00000400230,;TPTE2,intron_variant,,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,frameshift_variant,p.Gln310ArgfsTer17,ENST00000462409,;							MODIFIER	-/1569		TPTE2_HUMAN			Transcript			.	ENSP00000383089		CCDS45014.1			1	
DPYSL2	0	LGGM	GRCh37	8	26485418	26485418	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	7	2	.	.	ENST00000311151.5:c.652A>G	p.Thr218Ala	p.T218A	ENST00000311151	NM_001386.5	218	Acg/Gcg	0	1	1	UPI0000129864	0	getma.org/pdb.php?prot=DPYL2_HUMAN&from=64&to=413&var=T218A	ENST00000311151		ENSG00000092964	3014		9	3.245		HGNC	p.T218A		DPYSL2		SNV							ENST00000311151	protein_coding	getma.org/?cm=var&var=hg19,8,26485418,A,G&fts=all		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033		T/A		G	medium	1064/4603		getma.org/?cm=msa&ty=f&p=DPYL2_HUMAN&rb=64&re=413&var=T218A	deleterious(0.01)	Q8NAN9_HUMAN,A9CQZ2_HUMAN			YES	DPYSL2,missense_variant,p.Thr218Ala,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Thr182Ala,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Thr182Ala,ENST00000523027,NM_001244604.1;DPYSL2,non_coding_transcript_exon_variant,,ENST00000521983,;DPYSL2,downstream_gene_variant,,ENST00000523690,;DPYSL2,non_coding_transcript_exon_variant,,ENST00000523093,;							MODERATE	652/1719	T218A	DPYL2_HUMAN			Transcript		benign(0.037)	.	ENSP00000309539		CCDS6051.1			1	
BNC2	0	LGGM	GRCh37	9	16738363	16738363	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	23	3	.	.	ENST00000380672.4:c.124A>T	p.Ile42Phe	p.I42F	ENST00000380672	NM_017637.5	42	Att/Ttt	0	1	1	UPI000035E7B0	0	NA	ENST00000380672		ENSG00000173068	30988		26	0		HGNC	p.I42F		BNC2		SNV							ENST00000380667	protein_coding	getma.org/?cm=var&var=hg19,9,16738363,T,A&fts=all				I/F		A	neutral	182/12844		getma.org/?cm=msa&ty=f&p=BNC2_HUMAN&rb=1&re=69&var=I42F	tolerated_low_confidence(0.05)	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN			YES	BNC2,missense_variant,p.Ile42Phe,ENST00000380672,NM_017637.5;BNC2,missense_variant,p.Ile42Phe,ENST00000380667,;BNC2,missense_variant,p.Ile42Phe,ENST00000380666,;BNC2,intron_variant,,ENST00000545497,;BNC2,intron_variant,,ENST00000486514,;BNC2,missense_variant,p.Ile42Phe,ENST00000484726,;							MODERATE	124/3300	I42F	BNC2_HUMAN			Transcript		benign(0)	.	ENSP00000370047		CCDS6482.2			1	
KATNB1	0	LGGM	GRCh37	16	57775676	57775676	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	36	3	.	.	ENST00000379661.3:c.118G>A	p.Gly40Arg	p.G40R	ENST00000379661	NM_005886.2	40	Ggg/Agg	0	1	1	UPI000007388F	0	NA	ENST00000379661		ENSG00000140854	6217	8.84E-05	39	3.785		HGNC	p.G40R	rs781957453	KATNB1		SNV							ENST00000379661	protein_coding	getma.org/?cm=var&var=hg19,16,57775676,G,A&fts=all		HAMAP:MF_03022,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19845,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/R		A	high	510/2664	1.54E-05	getma.org/?cm=msa&ty=f&p=KTNB1_HUMAN&rb=12&re=49&var=G40R	deleterious(0)	H3BTV8_HUMAN,H3BPK1_HUMAN			YES	KATNB1,missense_variant,p.Gly40Arg,ENST00000379661,NM_005886.2;KATNB1,missense_variant,p.Gly40Arg,ENST00000562592,;KATNB1,missense_variant,p.Gly44Arg,ENST00000566726,;KATNB1,missense_variant,p.Gly40Arg,ENST00000569627,;KATNB1,missense_variant,p.Gly40Arg,ENST00000566785,;KATNB1,non_coding_transcript_exon_variant,,ENST00000566611,;KATNB1,non_coding_transcript_exon_variant,,ENST00000563127,;							MODERATE	118/1968	G40R	KTNB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368982	1.65E-05	CCDS10788.1			1	
ELAC1	0	LGGM	GRCh37	18	48500798	48500798	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	47	3	.	.	ENST00000269466.3:c.24G>T	p.Leu8=	p.L8=	ENST00000269466	NM_018696.2	8	ctG/ctT	0	1	1	UPI000006F39C	0		ENST00000269466		ENSG00000141642	14197		50			HGNC	p.L8L		ELAC1		SNV							ENST00000591429	protein_coding			HAMAP:MF_01818,hmmpanther:PTHR12553,TIGRFAM_domain:TIGR02651,Gene3D:3.60.15.10,Superfamily_domains:SSF56281		L		T		131/2235							YES	ELAC1,synonymous_variant,p.=,ENST00000269466,NM_018696.2;ELAC1,synonymous_variant,p.=,ENST00000591429,;ELAC1,synonymous_variant,p.=,ENST00000588577,;SMAD4,5_prime_UTR_variant,,ENST00000452201,;RP11-729L2.2,non_coding_transcript_exon_variant,,ENST00000588256,;RP11-729L2.2,synonymous_variant,p.=,ENST00000590722,;							LOW	24/1092		RNZ1_HUMAN			Transcript			.	ENSP00000269466		CCDS11949.1			1	
MED25	0	LGGM	GRCh37	19	50335572	50335572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	15	3	.	.	ENST00000312865.6:c.1382T>A	p.Leu461Gln	p.L461Q	ENST00000312865	NM_030973.3	461	cTg/cAg	0	1	1	UPI00002029A3	0	getma.org/pdb.php?prot=MED25_HUMAN&from=392&to=547&var=L461Q	ENST00000312865		ENSG00000104973	28845		18	1.78		HGNC	p.L461Q		MED25		SNV			1				ENST00000312865	protein_coding	getma.org/?cm=var&var=hg19,19,50335572,T,A&fts=all		hmmpanther:PTHR12433,hmmpanther:PTHR12433:SF10,Pfam_domain:PF11232		L/Q		A	low	1435/2332		getma.org/?cm=msa&ty=f&p=MED25_HUMAN&rb=392&re=547&var=L461Q	tolerated(0.07)				YES	MED25,missense_variant,p.Leu461Gln,ENST00000312865,NM_030973.3;MED25,missense_variant,p.Leu248Gln,ENST00000538643,;MED25,intron_variant,,ENST00000595185,;MED25,upstream_gene_variant,,ENST00000593767,;MED25,non_coding_transcript_exon_variant,,ENST00000599722,;MED25,upstream_gene_variant,,ENST00000594998,;							MODERATE	1382/2244	L461Q	MED25_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000326767		CCDS33075.1			1	
GPR146	0	LGGM	GRCh37	7	1097328	1097328	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	15	3	.	.	ENST00000397095.1:c.177G>A	p.Met59Ile	p.M59I	ENST00000397095		59	atG/atA	0	1		UPI0000040BAB	0	NA	ENST00000297468		ENSG00000164849	21718		18	1.04		HGNC	p.M59I		GPR146		SNV							ENST00000297468	protein_coding	getma.org/?cm=var&var=hg19,7,1097328,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF12,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		M/I		A	low	188/1757		getma.org/?cm=msa&ty=f&p=GP146_HUMAN&rb=44&re=296&var=M59I	deleterious(0.01)	C9JAQ6_HUMAN,C9J5X5_HUMAN,A4D2Q3_HUMAN				GPR146,missense_variant,p.Met59Ile,ENST00000397095,;GPR146,missense_variant,p.Met59Ile,ENST00000297468,NM_138445.2;GPR146,missense_variant,p.Met59Ile,ENST00000444847,;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,;C7orf50,upstream_gene_variant,,ENST00000444428,;GPR146,downstream_gene_variant,,ENST00000427680,;RP11-449P15.1,intron_variant,,ENST00000549241,;C7orf50,intron_variant,,ENST00000488073,;GPR146,downstream_gene_variant,,ENST00000474396,;							MODERATE	177/1002	M59I	GP146_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000297468		CCDS5321.1			1	
NPHS1	0	LGGM	GRCh37	19	36332690	36332690	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	22	3	.	.	ENST00000378910.5:c.2742T>A	p.Asp914Glu	p.D914E	ENST00000378910	NM_004646.3	914	gaT/gaA	0	1	1	UPI000004EF61	0	getma.org/pdb.php?prot=NPHN_HUMAN&from=837&to=938&var=D914E	ENST00000378910		ENSG00000161270	7908		25	2.405		HGNC	p.D914E		NPHS1		SNV			1				ENST00000353632	protein_coding	getma.org/?cm=var&var=hg19,19,36332690,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		D/E		T	medium	2742/4276		getma.org/?cm=msa&ty=f&p=NPHN_HUMAN&rb=837&re=938&var=D914E	deleterious(0)				YES	NPHS1,missense_variant,p.Asp914Glu,ENST00000378910,NM_004646.3;NPHS1,missense_variant,p.Asp914Glu,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000585400,;							MODERATE	2742/3726	D914E	NPHN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368190		CCDS32996.1			1	
KTI12	0	LGGM	GRCh37	1	52499391	52499391	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	9	3	.	.	ENST00000371614.1:c.43A>G	p.Ser15Gly	p.S15G	ENST00000371614	NM_138417.2	15	Agc/Ggc	0	1	1	UPI000007168B	0	NA	ENST00000371614		ENSG00000198841	25160		12	2.965		HGNC	p.S15G		KTI12		SNV							ENST00000371614	protein_coding	getma.org/?cm=var&var=hg19,1,52499391,T,C&fts=all		hmmpanther:PTHR12435,hmmpanther:PTHR12435:SF1,Pfam_domain:PF08433,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		S/G		C	medium	98/1714		getma.org/?cm=msa&ty=f&p=KTI12_HUMAN&rb=1&re=350&var=S15G	deleterious(0)				YES	KTI12,missense_variant,p.Ser15Gly,ENST00000371614,NM_138417.2;TXNDC12,3_prime_UTR_variant,,ENST00000610127,;TXNDC12,intron_variant,,ENST00000371626,NM_015913.3;RP11-91A18.4,non_coding_transcript_exon_variant,,ENST00000425802,;TXNDC12,intron_variant,,ENST00000472624,;							MODERATE	43/1065	S15G	KTI12_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000360676		CCDS562.1			1	
HDAC6	0	LGGM	GRCh37	X	48661346	48661346	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	8	3	.	.	ENST00000334136.5:c.162C>A	p.Gly54=	p.G54=	ENST00000334136		54	ggC/ggA	0	1	1	UPI0000073E04	0		ENST00000334136		ENSG00000094631	14064		11			HGNC	p.G68G		HDAC6		SNV			1				ENST00000444343	protein_coding			Low_complexity_(Seg):seg		G		A		340/4190				E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN			YES	HDAC6,synonymous_variant,p.=,ENST00000334136,;HDAC6,synonymous_variant,p.=,ENST00000376619,NM_006044.2;HDAC6,synonymous_variant,p.=,ENST00000444343,;HDAC6,synonymous_variant,p.=,ENST00000376643,;HDAC6,synonymous_variant,p.=,ENST00000426196,;HDAC6,synonymous_variant,p.=,ENST00000376610,;HDAC6,synonymous_variant,p.=,ENST00000440653,;HDAC6,synonymous_variant,p.=,ENST00000441703,;HDAC6,synonymous_variant,p.=,ENST00000423941,;HDAC6,synonymous_variant,p.=,ENST00000443563,;HDAC6,5_prime_UTR_variant,,ENST00000413163,;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,;							LOW	162/3648		HDAC6_HUMAN			Transcript			.	ENSP00000334061		CCDS14306.1			1	
ZNF592	0	LGGM	GRCh37	15	85345485	85345485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	30	3	.	.	ENST00000299927.3:c.3665C>T	p.Ala1222Val	p.A1222V	ENST00000299927		1222	gCc/gTc	0	1	1	UPI000013E5FC	0	NA	ENST00000299927		ENSG00000166716	28986		33	0		HGNC	p.A1222V		ZNF592		SNV			1				ENST00000560079	protein_coding	getma.org/?cm=var&var=hg19,15,85345485,C,T&fts=all				A/V		T	neutral	3687/7861		getma.org/?cm=msa&ty=f&p=ZN592_HUMAN&rb=1201&re=1267&var=A1222V	tolerated_low_confidence(0.3)				YES	ZNF592,missense_variant,p.Ala1222Val,ENST00000299927,;ZNF592,missense_variant,p.Ala1222Val,ENST00000560079,NM_014630.2;ZNF592,3_prime_UTR_variant,,ENST00000559607,;							MODERATE	3665/3804	A1222V	ZN592_HUMAN			Transcript		benign(0.003)	.	ENSP00000299927		CCDS32317.1			1	
PREX1	0	LGGM	GRCh37	20	47305323	47305323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	40	3	.	.	ENST00000371941.3:c.1206G>T	p.Glu402Asp	p.E402D	ENST00000371941	NM_020820.3	402	gaG/gaT	0	1	1	UPI000013D375	0	NA	ENST00000371941		ENSG00000124126	32594		43	0.895		HGNC	p.E402D		PREX1		SNV							ENST00000371941	protein_coding	getma.org/?cm=var&var=hg19,20,47305323,C,A&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6		E/D		A	low	1229/6636		getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=392&re=425&var=E402D	deleterious(0.03)				YES	PREX1,missense_variant,p.Glu402Asp,ENST00000396220,;PREX1,missense_variant,p.Glu402Asp,ENST00000371941,NM_020820.3;							MODERATE	1206/4980	E402D	PREX1_HUMAN			Transcript		benign(0.021)	.	ENSP00000361009		CCDS13410.1			1	
NR4A1	0	LGGM	GRCh37	12	52435678	52435678	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	14	3	.	.	ENST00000360284.3:c.2T>A	p.Met1?	p.M1?	ENST00000360284	NM_001202233.1	1	aTg/aAg	0	1	1	UPI00001FC28B	0	NA	ENST00000360284		ENSG00000123358	7980		17	0		HGNC	p.M1K		NR4A1		SNV							ENST00000553200	protein_coding	getma.org/?cm=var&var=hg19,12,52435678,T,A&fts=all		hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085		M/K		A	NA	193/2132		http://getma.org/?cm=msa&ty=f&p=H3BSB9_HUMAN&rb=1&re=119&var=M1K	deleterious_low_confidence(0.03)	H3BT85_HUMAN,H3BSB9_HUMAN,H3BPN8_HUMAN			YES	NR4A1,start_lost,p.Met1?,ENST00000360284,NM_001202233.1;NR4A1,start_lost,p.Met1?,ENST00000550082,;NR4A1,start_lost,p.Met1?,ENST00000546842,;NR4A1,start_lost,p.Met1?,ENST00000548977,;NR4A1,start_lost,p.Met1?,ENST00000553200,;NR4A1,missense_variant,p.Met42Lys,ENST00000545748,;NR4A1,upstream_gene_variant,,ENST00000547206,;NR4A1,upstream_gene_variant,,ENST00000478250,;NR4A1,upstream_gene_variant,,ENST00000549102,;							HIGH	2/1836	M1K	NR4A1_HUMAN			Transcript		unknown(0)	.	ENSP00000353427		CCDS55828.1			1	
TMEM200A	0	LGGM	GRCh37	6	130762701	130762701	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	27	3	.	.	ENST00000392429.1:c.1134C>A	p.Ala378=	p.A378=	ENST00000392429	NM_052913.2	378	gcC/gcA	0	1		UPI000000DA85	0		ENST00000296978		ENSG00000164484	21075		30			HGNC	p.A378A		TMEM200A		SNV							ENST00000545622	protein_coding			hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0		A		A		2005/3512				B4DG12_HUMAN,A8K2A1_HUMAN				TMEM200A,synonymous_variant,p.=,ENST00000392429,NM_052913.2;TMEM200A,synonymous_variant,p.=,ENST00000296978,NM_001258277.1,NM_001258276.1,NM_001258278.1;TMEM200A,synonymous_variant,p.=,ENST00000545622,;							LOW	1134/1476		T200A_HUMAN			Transcript			.	ENSP00000296978		CCDS5140.1			1	
SLC6A18	0	LGGM	GRCh37	5	1232360	1232360	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	12	3	.	.	ENST00000324642.3:c.187G>A	p.Ala63Thr	p.A63T	ENST00000324642	NM_182632.2	63	Gcg/Acg	0	1	1	UPI0000197EA2	0	getma.org/pdb.php?prot=S6A18_HUMAN&from=18&to=593&var=A63T	ENST00000324642		ENSG00000164363	26441		15	1.865		HGNC	p.A63T	rs140475239,COSM72718	SLC6A18		SNV	A:0		1	0.000113		0,1	ENST00000296821	protein_coding	getma.org/?cm=var&var=hg19,5,1232360,G,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF109,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		A/T	A:0.0001	A	low	310/2121	1.68E-05	getma.org/?cm=msa&ty=f&p=S6A18_HUMAN&rb=18&re=593&var=A63T	deleterious(0.04)				YES	SLC6A18,missense_variant,p.Ala63Thr,ENST00000324642,NM_182632.2;SLC6A18,missense_variant,p.Ala63Thr,ENST00000296821,;SLC6A18,non_coding_transcript_exon_variant,,ENST00000513607,;					0,1		MODERATE	187/1887	A63T	S6A18_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000323549	1.65E-05	CCDS3860.1			1	
IFITM3	0	LGGM	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	79	4	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0	1	1	UPI00000465C0	0	NA	ENST00000399808		ENSG00000142089	5414	0.0386	83	0.895		HGNC	p.P70T	rs199749095,COSM42691	IFITM3	0.0776	SNV			1	0.0604		0,1	ENST00000399808	protein_coding	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix		P/T		T	low	445/808	0.0502	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	tolerated(0.45)	E9PS44_HUMAN			YES	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,;	0.0105				0,1		MODERATE	208/402	P70T	IFM3_HUMAN	0.0265		Transcript		benign(0.001)	common_variant	ENSP00000382707	0.0511	CCDS41585.1	0.0547		1	23658454
LMTK3	0	LGGM	GRCh37	19	49016407	49016407	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	53	4	.	.	ENST00000270238.3:c.40G>A	p.Ala14Thr	p.A14T	ENST00000270238	NM_001080434.1	14	Gca/Aca	0	1		UPI000013D87D	0		ENST00000600059		ENSG00000142235	19295		57		1346	HGNC	p.A14T	rs774696762,COSM1612525	LMTK3		SNV						0,1	ENST00000270238	protein_coding							T		-/5113	5.57E-05							LMTK3,missense_variant,p.Ala14Thr,ENST00000270238,NM_001080434.1;LMTK3,upstream_gene_variant,,ENST00000600059,;CTC-273B12.10,downstream_gene_variant,,ENST00000598924,;					0,1		MODIFIER	-/4383		LMTK3_HUMAN			Transcript			.	ENSP00000472020	1.65E-05				1	
ZXDB	0	LGGM	GRCh37	X	57620231	57620231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	44	4	.	.	ENST00000374888.1:c.1750G>T	p.Ala584Ser	p.A584S	ENST00000374888	NM_007157.3	584	Gca/Tca	0	1	1	UPI000013C495	0	NA	ENST00000374888		ENSG00000198455	13199		48	1.935		HGNC	p.A584S		ZXDB		SNV							ENST00000374888	protein_coding	getma.org/?cm=var&var=hg19,X,57620231,G,T&fts=all		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72		A/S		T	medium	1963/5638		getma.org/?cm=msa&ty=f&p=ZXDB_HUMAN&rb=573&re=772&var=A584S	tolerated(0.05)				YES	ZXDB,missense_variant,p.Ala584Ser,ENST00000374888,NM_007157.3;							MODERATE	1750/2412	A584S	ZXDB_HUMAN			Transcript		benign(0.046)	.	ENSP00000364023		CCDS35313.1			1	
CPXM2	0	LGGM	GRCh37	10	125506321	125506321	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	53	4	.	.	ENST00000241305.3:c.2230C>T	p.Arg744Trp	p.R744W	ENST00000241305	NM_198148.2	744	Cgg/Tgg	0	1	1	UPI00001AE6BE	0	NA	ENST00000241305		ENSG00000121898	26977	8.64E-05	57	1.7		HGNC	p.R744W	rs762600262,COSM4012400	CPXM2	6.06E-05	SNV						0,1	ENST00000241305	protein_coding	getma.org/?cm=var&var=hg19,10,125506321,G,A&fts=all		hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45,Low_complexity_(Seg):seg		R/W		A	low	2385/3554		getma.org/?cm=msa&ty=f&p=CPXM2_HUMAN&rb=720&re=756&var=R744W	deleterious(0.03)				YES	CPXM2,missense_variant,p.Arg744Trp,ENST00000241305,NM_198148.2;CPXM2,intron_variant,,ENST00000368854,;	0.000231				0,1		MODERATE	2230/2271	R744W	CPXM2_HUMAN			Transcript		unknown(0)	.	ENSP00000241305	3.29E-05	CCDS7637.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	87	9	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	96			HGNC	p.P55P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000399808	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
PEPD	0	LGGM	GRCh37	19	33892663	33892663	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	9	5	.	.	ENST00000244137.7:c.931C>T	p.Arg311Trp	p.R311W	ENST00000244137	NM_000285.3	311	Cgg/Tgg	0	1	1	UPI000006F8BF	0	getma.org/pdb.php?prot=PEPD_HUMAN&from=193&to=459&var=R311W	ENST00000244137		ENSG00000124299	8840	0.000125	14	3.04		HGNC	p.R270W	rs750032811,COSM1195519	PEPD		SNV			1			0,1	ENST00000397032	protein_coding	getma.org/?cm=var&var=hg19,19,33892663,G,A&fts=all		Gene3D:3.90.230.10,Pfam_domain:PF00557,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF17,Superfamily_domains:SSF55920		R/W		A	medium	965/1910	6.10E-05	getma.org/?cm=msa&ty=f&p=PEPD_HUMAN&rb=193&re=459&var=R311W	deleterious(0.01)	K7EQ51_HUMAN			YES	PEPD,missense_variant,p.Arg311Trp,ENST00000244137,NM_000285.3;PEPD,missense_variant,p.Arg270Trp,ENST00000397032,NM_001166056.1;PEPD,missense_variant,p.Arg247Trp,ENST00000436370,NM_001166057.1;PEPD,missense_variant,p.Arg142Trp,ENST00000588328,;PEPD,downstream_gene_variant,,ENST00000609145,;PEPD,downstream_gene_variant,,ENST00000590731,;PEPD,downstream_gene_variant,,ENST00000588719,;PEPD,downstream_gene_variant,,ENST00000593163,;					0,1		MODERATE	931/1482	R311W	PEPD_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000244137	3.31E-05	CCDS42544.1			1	
PTPN6	0	LGGM	GRCh37	12	7069370	7069370	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	22	5	.	.	ENST00000456013.1:c.1549G>T	p.Glu517Ter	p.E517*	ENST00000456013	NM_080549.3	517	Gaa/Taa	0	1		UPI000013296A	0	NA	ENST00000318974		ENSG00000111679	9658		27	0		HGNC	p.E517X		PTPN6		SNV							ENST00000318974	protein_coding	getma.org/?cm=var&var=hg19,12,7069370,G,T&fts=all		Gene3D:3.90.190.10,PIRSF_domain:PIRSF000929,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF65,SMART_domains:SM00194,Superfamily_domains:SSF52799		E/*		T	NA	1793/2245		NA		F5H0N8_HUMAN				PTPN6,stop_gained,p.Glu517Ter,ENST00000456013,NM_080549.3;PTPN6,stop_gained,p.Glu517Ter,ENST00000318974,NM_002831.5;PTPN6,stop_gained,p.Glu519Ter,ENST00000399448,NM_080548.4;PTPN6,stop_gained,p.Glu478Ter,ENST00000447931,;U47924.27,upstream_gene_variant,,ENST00000537269,;MIR141,upstream_gene_variant,,ENST00000384975,;MIR200C,upstream_gene_variant,,ENST00000384980,;U47924.29,upstream_gene_variant,,ENST00000606539,;PTPN6,non_coding_transcript_exon_variant,,ENST00000539029,;PTPN6,non_coding_transcript_exon_variant,,ENST00000537533,;EMG1,upstream_gene_variant,,ENST00000607161,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,non_coding_transcript_exon_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000536013,;							HIGH	1549/1788	E517*	PTN6_HUMAN			Transcript			.	ENSP00000326010		CCDS44820.1			1	
CDH6	0	LGGM	GRCh37	5	31323381	31323381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	64	5	.	.	ENST00000265071.2:c.2339T>A	p.Met780Lys	p.M780K	ENST00000265071	NM_004932.3	780	aTg/aAg	0	1	1	UPI0000126D9B	0	getma.org/pdb.php?prot=CADH6_HUMAN&from=637&to=784&var=M780K	ENST00000265071		ENSG00000113361	1765		69	3.505		HGNC	p.M780K		CDH6		SNV							ENST00000265071	protein_coding	getma.org/?cm=var&var=hg19,5,31323381,T,A&fts=all		Pfam_domain:PF01049,Gene3D:4.10.900.10,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027		M/K		A	high	2604/8476		getma.org/?cm=msa&ty=f&p=CADH6_HUMAN&rb=637&re=784&var=M780K	deleterious(0)				YES	CDH6,missense_variant,p.Met780Lys,ENST00000265071,NM_004932.3;CDH6,downstream_gene_variant,,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000504835,;							MODERATE	2339/2373	M780K	CADH6_HUMAN			Transcript		benign(0.104)	.	ENSP00000265071		CCDS3894.1			1	
TCF20	0	LGGM	GRCh37	22	42608512	42608512	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	37	5	.	.	ENST00000359486.3:c.2800G>A	p.Glu934Lys	p.E934K	ENST00000359486	NM_005650.2	934	Gaa/Aaa	0	1	1	UPI00001A95D9	0	NA	ENST00000359486		ENSG00000100207	11631		42	0.695		HGNC	p.E934K		TCF20		SNV							ENST00000359486	protein_coding	getma.org/?cm=var&var=hg19,22,42608512,C,T&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7		E/K		T	neutral	2937/7410		getma.org/?cm=msa&ty=f&p=TCF20_HUMAN&rb=490&re=1239&var=E934K		I3L1M7_HUMAN			YES	TCF20,missense_variant,p.Glu934Lys,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Glu934Lys,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							MODERATE	2800/5883	E934K	TCF20_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000352463		CCDS14033.1			1	
PRMT6	0	LGGM	GRCh37	1	107599429	107599429	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	10	5	.	.	ENST00000370078.1:c.92C>A	p.Ala31Glu	p.A31E	ENST00000370078		31	gCg/gAg	0	1	1	UPI000004B63D	0	NA	ENST00000370078		ENSG00000198890	18241		15	0.975		HGNC	p.A31E		PRMT6		SNV							ENST00000370078	protein_coding	getma.org/?cm=var&var=hg19,1,107599429,C,A&fts=all		hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF50,Low_complexity_(Seg):seg		A/E		A	low	129/2616		getma.org/?cm=msa&ty=f&p=ANM6_HUMAN&rb=1&re=81&var=A31E	tolerated(0.27)				YES	PRMT6,missense_variant,p.Ala31Glu,ENST00000370078,;PRMT6,5_prime_UTR_variant,,ENST00000361318,NM_018137.2;							MODERATE	92/1128	A31E	ANM6_HUMAN			Transcript		benign(0.035)	.	ENSP00000359095		CCDS41360.2			1	
LRRC4C	0	LGGM	GRCh37	11	40137813	40137813	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	43	5	.	.	ENST00000278198.2:c.30G>T	p.Gln10His	p.Q10H	ENST00000278198		10	caG/caT	0	1	1	UPI000000D9A7	0	NA	ENST00000278198		ENSG00000148948	29317		48	0.55		HGNC	p.Q10H		LRRC4C		SNV							ENST00000528697	protein_coding	getma.org/?cm=var&var=hg19,11,40137813,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369		Q/H		A	neutral	1994/4054		getma.org/?cm=msa&ty=f&p=LRC4C_HUMAN&rb=1&re=39&var=Q10H	tolerated_low_confidence(0.23)	E9PLP4_HUMAN			YES	LRRC4C,missense_variant,p.Gln10His,ENST00000278198,;LRRC4C,missense_variant,p.Gln10His,ENST00000527150,;LRRC4C,missense_variant,p.Gln10His,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Gln10His,ENST00000528697,NM_001258419.1;LRRC4C,missense_variant,p.Gln10His,ENST00000533474,;							MODERATE	30/1923	Q10H	LRC4C_HUMAN			Transcript		benign(0)	.	ENSP00000278198		CCDS31464.1			1	
SETX	0	LGGM	GRCh37	9	135203658	135203658	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	85	5	.	.	ENST00000224140.5:c.3327A>T	p.Lys1109Asn	p.K1109N	ENST00000224140	NM_015046.5	1109	aaA/aaT	0	1	1	UPI0000210D28	0	NA	ENST00000224140		ENSG00000107290	445		90	-0.345		HGNC	p.K1109N		SETX		SNV			1				ENST00000393220	protein_coding	getma.org/?cm=var&var=hg19,9,135203658,T,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336		K/N		A	neutral	3510/11100		getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=1022&re=1221&var=K1109N	tolerated(1)				YES	SETX,missense_variant,p.Lys1109Asn,ENST00000372169,;SETX,missense_variant,p.Lys1109Asn,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Lys1109Asn,ENST00000393220,;							MODERATE	3327/8034	K1109N	SETX_HUMAN			Transcript		benign(0)	.	ENSP00000224140		CCDS6947.1			1	
FARS2	0	LGGM	GRCh37	6	5369004	5369004	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	40	5	.	.	ENST00000324331.6:c.201C>A	p.Thr67=	p.T67=	ENST00000324331		67	acC/acA	0	1		UPI000006CF04	0		ENST00000274680		ENSG00000145982	21062		45			HGNC	p.T67T		FARS2		SNV			1				ENST00000324331	protein_coding			hmmpanther:PTHR11538,hmmpanther:PTHR11538:SF40		T		A		357/1663				R4GMX6_HUMAN				FARS2,synonymous_variant,p.=,ENST00000324331,;FARS2,synonymous_variant,p.=,ENST00000274680,NM_006567.3;FARS2,downstream_gene_variant,,ENST00000602691,;							LOW	201/1356		SYFM_HUMAN			Transcript			.	ENSP00000274680		CCDS4494.1			1	
TP53	0	LGGM	GRCh37	17	7577535	7577535	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	12	5	.	.	ENST00000269305.4:c.746G>T	p.Arg249Met	p.R249M	ENST00000269305	NM_001126112.2	249	aGg/aTg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R249M	ENST00000269305		ENSG00000141510	11998		17	3.3		HGNC	p.R249M	TP53_g.13383G>T,COSM43871,COSM326724,COSM326723,COSM3388182,COSM1649403	TP53		SNV			1			0,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577535,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/M		A	medium	936/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R249M	deleterious(0)	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			YES	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,;					0,1,1,1,1,1		MODERATE	746/1182	R249M	P53_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000269305		CCDS11118.1			1	
RFX4	0	LGGM	GRCh37	12	107048050	107048050	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	55	5	.	.	ENST00000357881.4:c.263G>A	p.Arg88His	p.R88H	ENST00000357881	NM_001206691.1	88	cGc/cAc	0	1		UPI00003677F9	0	getma.org/pdb.php?prot=RFX4_HUMAN&from=53&to=126&var=R79H	ENST00000392842		ENSG00000111783	9985		60	2.875		HGNC	p.R50H		RFX4		SNV							ENST00000546882	protein_coding	getma.org/?cm=var&var=hg19,12,107048050,G,A&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF15,Superfamily_domains:SSF46785		R/H		A	medium	650/3955		getma.org/?cm=msa&ty=f&p=RFX4_HUMAN&rb=53&re=126&var=R79H	deleterious(0)	R4GMS3_HUMAN,F8VZC4_HUMAN				RFX4,missense_variant,p.Arg79His,ENST00000392842,NM_213594.2;RFX4,missense_variant,p.Arg88His,ENST00000357881,NM_001206691.1;RFX4,missense_variant,p.Arg24His,ENST00000551640,;RFX4,5_prime_UTR_variant,,ENST00000539967,;RFX4,5_prime_UTR_variant,,ENST00000549040,;RP11-144F15.1,intron_variant,,ENST00000551505,;RFX4,missense_variant,p.Arg88His,ENST00000536722,;RFX4,missense_variant,p.Arg50His,ENST00000546882,;RFX4,non_coding_transcript_exon_variant,,ENST00000536688,;RFX4,non_coding_transcript_exon_variant,,ENST00000552773,;RP11-144F15.1,intron_variant,,ENST00000549203,;							MODERATE	236/2208	R79H	RFX4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376585		CCDS9106.1			1	
TUBB2A	0	LGGM	GRCh37	6	3156376	3156376	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	21	6	.	.	ENST00000333628.3:c.68T>G	p.Val23Gly	p.V23G	ENST00000333628	NM_001069.2	23	gTc/gGc	0	1	1	UPI000000DC98	0	getma.org/pdb.php?prot=TBB2A_HUMAN&from=3&to=224&var=V23G	ENST00000333628		ENSG00000137267	12412		27	3.11		HGNC	p.V23G		TUBB2A		SNV			1				ENST00000333628	protein_coding	getma.org/?cm=var&var=hg19,6,3156376,A,C&fts=all		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF56,Superfamily_domains:SSF52490		V/G		C	medium	131/1595		getma.org/?cm=msa&ty=f&p=TBB2A_HUMAN&rb=3&re=224&var=V23G	deleterious_low_confidence(0.01)				YES	TUBB2A,missense_variant,p.Val23Gly,ENST00000333628,NM_001069.2;BPHL,downstream_gene_variant,,ENST00000380368,;BPHL,downstream_gene_variant,,ENST00000380375,;BPHL,downstream_gene_variant,,ENST00000380379,NM_004332.2;BPHL,downstream_gene_variant,,ENST00000434640,;BPHL,downstream_gene_variant,,ENST00000423798,;RP1-40E16.11,upstream_gene_variant,,ENST00000447644,;TUBB2A,non_coding_transcript_exon_variant,,ENST00000489942,;BPHL,downstream_gene_variant,,ENST00000464040,;BPHL,downstream_gene_variant,,ENST00000490918,;BPHL,downstream_gene_variant,,ENST00000430655,;BPHL,downstream_gene_variant,,ENST00000424847,;BPHL,downstream_gene_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000433912,;							MODERATE	68/1338	V23G	TBB2A_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000369703		CCDS4484.1			1	
DUS3L	0	LGGM	GRCh37	19	5790086	5790086	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	28	6	.	.	ENST00000309061.7:c.359A>C	p.Lys120Thr	p.K120T	ENST00000309061	NM_020175.2	120	aAg/aCg	0	1	1	UPI0000140953	0	NA	ENST00000309061		ENSG00000141994	26920		34	1.5		HGNC	p.K120T		DUS3L		SNV							ENST00000309061	protein_coding	getma.org/?cm=var&var=hg19,19,5790086,T,G&fts=all		Gene3D:1m9oA00,PROSITE_profiles:PS50103		K/T		G	low	456/2113		getma.org/?cm=msa&ty=f&p=DUS3L_HUMAN&rb=1&re=200&var=K120T	tolerated(0.26)	D6W636_HUMAN			YES	DUS3L,missense_variant,p.Lys120Thr,ENST00000309061,NM_020175.2;DUS3L,missense_variant,p.Lys64Thr,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,missense_variant,p.Lys120Thr,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,;							MODERATE	359/1953	K120T	DUS3L_HUMAN			Transcript		benign(0.004)	.	ENSP00000311977		CCDS32880.1			1	
MRS2	0	LGGM	GRCh37	6	24423902	24423902	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	30	6	.	.	ENST00000378386.3:c.1312A>G	p.Ser438Gly	p.S438G	ENST00000378386	NM_020662.2	438	Agc/Ggc	0	1	1	UPI00000343FA	0	NA	ENST00000378386		ENSG00000124532	13785		36	0.345		HGNC	p.S441G		MRS2		SNV							ENST00000443868	protein_coding	getma.org/?cm=var&var=hg19,6,24423902,A,G&fts=all				S/G		G	neutral	1405/3313		getma.org/?cm=msa&ty=f&p=MRS2_HUMAN&rb=368&re=443&var=S438G	tolerated_low_confidence(0.09)	B4DMD9_HUMAN			YES	MRS2,missense_variant,p.Ser438Gly,ENST00000378386,NM_020662.2;MRS2,missense_variant,p.Ser388Gly,ENST00000535061,NM_001286266.1;MRS2,missense_variant,p.Ser147Gly,ENST00000543597,;MRS2,missense_variant,p.Ser441Gly,ENST00000443868,NM_001286264.1;MRS2,3_prime_UTR_variant,,ENST00000274747,;GPLD1,downstream_gene_variant,,ENST00000230036,NM_001503.3;MRS2,downstream_gene_variant,,ENST00000378353,NM_001286265.1;MRS2,downstream_gene_variant,,ENST00000483634,;GPLD1,downstream_gene_variant,,ENST00000492917,;							MODERATE	1312/1332	S438G	MRS2_HUMAN			Transcript		benign(0)	.	ENSP00000367637		CCDS4552.1			1	
MYBPC2	0	LGGM	GRCh37	19	50963425	50963425	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	44	6	.	.	ENST00000357701.5:c.2920A>G	p.Lys974Glu	p.K974E	ENST00000357701	NM_004533.3	974	Aaa/Gaa	0	1	1	UPI000013C628	0	getma.org/pdb.php?prot=MYPC2_HUMAN&from=934&to=1017&var=K974E	ENST00000357701		ENSG00000086967	7550		50	2.36		HGNC	p.K974E		MYBPC2		SNV							ENST00000357701	protein_coding	getma.org/?cm=var&var=hg19,19,50963425,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF56,SMART_domains:SM00060,Superfamily_domains:SSF49265		K/E		G	medium	2971/3593		getma.org/?cm=msa&ty=f&p=MYPC2_HUMAN&rb=934&re=1017&var=K974E	deleterious(0.02)				YES	MYBPC2,missense_variant,p.Lys974Glu,ENST00000357701,NM_004533.3;MYBPC2,upstream_gene_variant,,ENST00000597498,;							MODERATE	2920/3426	K974E	MYPC2_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000350332		CCDS46152.1			1	
SOS1	0	LGGM	GRCh37	2	39278416	39278416	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	86	6	.	.	ENST00000402219.2:c.733A>G	p.Ile245Val	p.I245V	ENST00000402219	NM_005633.3	245	Ata/Gta	0	1		UPI0000135CF0	0	getma.org/pdb.php?prot=SOS1_HUMAN&from=208&to=389&var=I245V	ENST00000402219		ENSG00000115904	11187		92	1.61		HGNC	p.I245V	rs763459953	SOS1		SNV			1				ENST00000402219	protein_coding	getma.org/?cm=var&var=hg19,2,39278416,T,C&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168,SMART_domains:SM00325,Superfamily_domains:SSF48065		I/V		C	low	774/8314	1.50E-05	getma.org/?cm=msa&ty=f&p=SOS1_HUMAN&rb=208&re=389&var=I245V	tolerated(0.05)	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN				SOS1,missense_variant,p.Ile245Val,ENST00000426016,;SOS1,missense_variant,p.Ile245Val,ENST00000402219,NM_005633.3;SOS1,missense_variant,p.Ile245Val,ENST00000395038,;SOS1,missense_variant,p.Ile188Val,ENST00000428721,;SOS1,non_coding_transcript_exon_variant,,ENST00000461545,;							MODERATE	733/4002	I245V	SOS1_HUMAN			Transcript		benign(0.06)	.	ENSP00000384675	8.24E-06	CCDS1802.1			1	
BRCA2	0	LGGM	GRCh37	13	32911247	32911247	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	46	6	.	.	ENST00000380152.3:c.2755G>A	p.Glu919Lys	p.E919K	ENST00000380152		919	Gaa/Aaa	0	1		UPI00001FCBCC	0	NA	ENST00000380152	uncertain_significance	ENSG00000139618	1101		52	0.28		HGNC	p.E919K	rs431825298	BRCA2		SNV			1			1	ENST00000544455	protein_coding	getma.org/?cm=var&var=hg19,13,32911247,G,A&fts=all		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397		E/K		A	neutral	2988/10930	1.50E-05	getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=801&re=1000&var=E919K	tolerated(0.1)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN				BRCA2,missense_variant,p.Glu919Lys,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.Glu919Lys,ENST00000380152,;BRCA2,downstream_gene_variant,,ENST00000530893,;							MODERATE	2755/10257	E919K	BRCA2_HUMAN			Transcript		benign(0.22)	.	ENSP00000369497	8.24E-06	CCDS9344.1			1	
PLCB2	0	LGGM	GRCh37	15	40585831	40585831	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	72	6	.	.	ENST00000260402.3:c.2156G>A	p.Arg719Gln	p.R719Q	ENST00000260402	NM_004573.2	719	cGa/cAa	0	1	1	UPI0000D79B75	0	getma.org/pdb.php?prot=PLCB2_HUMAN&from=684&to=767&var=R719Q	ENST00000260402		ENSG00000137841	9055		78	2.175		HGNC	p.R719Q	rs768839429,COSM3815961,COSM3815960	PLCB2		SNV						0,1,1	ENST00000260402	protein_coding	getma.org/?cm=var&var=hg19,15,40585831,C,T&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF49562		R/Q		T	medium	2406/4616	1.50E-05	getma.org/?cm=msa&ty=f&p=PLCB2_HUMAN&rb=684&re=767&var=R719Q	deleterious(0.01)	H0YNI4_HUMAN			YES	PLCB2,missense_variant,p.Arg719Gln,ENST00000260402,NM_004573.2;PLCB2,missense_variant,p.Arg715Gln,ENST00000557821,NM_001284297.1;PLCB2,missense_variant,p.Arg719Gln,ENST00000456256,NM_001284298.1;PLCB2,upstream_gene_variant,,ENST00000559671,;PLCB2,missense_variant,p.Arg719Gln,ENST00000558588,;PLCB2,upstream_gene_variant,,ENST00000559381,;PLCB2,upstream_gene_variant,,ENST00000560701,;PLCB2,upstream_gene_variant,,ENST00000560009,;PLCB2,downstream_gene_variant,,ENST00000560093,;PLCB2,upstream_gene_variant,,ENST00000561378,;PLCB2,upstream_gene_variant,,ENST00000558505,;PLCB2,upstream_gene_variant,,ENST00000559618,;PLCB2,downstream_gene_variant,,ENST00000558409,;					0,1,1		MODERATE	2156/3558	R719Q	PLCB2_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000260402	8.27E-06	CCDS42020.1			1	
USP24	0	LGGM	GRCh37	1	55609869	55609869	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	34	6	.	.	ENST00000294383.6:c.2370C>G	p.Asn790Lys	p.N790K	ENST00000294383	NM_015306.2	790	aaC/aaG	0	1	1	UPI000059CFDE	0	NA	ENST00000294383		ENSG00000162402	12623		40	-0.35		HGNC	p.N790K		USP24		SNV							ENST00000294383	protein_coding	getma.org/?cm=var&var=hg19,1,55609869,G,C&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		N/K		C	neutral	2370/10549		getma.org/?cm=msa&ty=f&p=UBP24_HUMAN&rb=121&re=1439&var=N790K	tolerated(0.39)				YES	USP24,missense_variant,p.Asn790Lys,ENST00000294383,NM_015306.2;USP24,missense_variant,p.Asn630Lys,ENST00000407756,;							MODERATE	2370/7863	N790K	UBP24_HUMAN			Transcript		benign(0.031)	.	ENSP00000294383		CCDS44154.2			1	
AGTPBP1	0	LGGM	GRCh37	9	88248234	88248234	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	96	6	.	.	ENST00000376083.3:c.1238G>A	p.Arg413His	p.R413H	ENST00000376083	NM_015239.2	413	cGt/cAt	0	1		UPI0000210BFC	0	NA	ENST00000357081		ENSG00000135049	17258		102	0.345		HGNC	p.R291H	COSM3220724,COSM3220725	AGTPBP1		SNV						1,1	ENST00000432218	protein_coding	getma.org/?cm=var&var=hg19,9,88248234,C,T&fts=all		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF2		R/H		T	neutral	1503/4393		getma.org/?cm=msa&ty=f&p=CBPC1_HUMAN&rb=12&re=696&var=R453H	tolerated(0.17)					AGTPBP1,missense_variant,p.Arg453His,ENST00000357081,NM_001286715.1;AGTPBP1,missense_variant,p.Arg465His,ENST00000376109,NM_001286717.1;AGTPBP1,missense_variant,p.Arg413His,ENST00000376083,NM_015239.2;AGTPBP1,missense_variant,p.Arg291His,ENST00000432218,;AGTPBP1,3_prime_UTR_variant,,ENST00000337006,;					1,1		MODERATE	1358/3681	R453H	CBPC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000349592					1	
FYN	0	LGGM	GRCh37	6	112020859	112020859	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	24	6	.	.	ENST00000368678.4:c.712T>C	p.Leu238=	p.L238=	ENST00000368678		238	Ttg/Ctg	0	1	1	UPI0000141141	0		ENST00000354650		ENSG00000010810	4037		30			HGNC	p.L238L		FYN		SNV							ENST00000368678	protein_coding							G		-/3628				E5RK23_HUMAN,E5RJX7_HUMAN,E5RIX5_HUMAN,E5RI25_HUMAN,E5RHX7_HUMAN,E5RHF7_HUMAN,E5RH71_HUMAN,E5RGT0_HUMAN,E5RGM6_HUMAN,E5RFS5_HUMAN,E5RFM6_HUMAN,E5RFM4_HUMAN,E5RFM0_HUMAN			YES	FYN,synonymous_variant,p.=,ENST00000368682,;FYN,synonymous_variant,p.=,ENST00000368678,;FYN,synonymous_variant,p.=,ENST00000229470,;FYN,synonymous_variant,p.=,ENST00000538466,NM_153047.3;FYN,intron_variant,,ENST00000354650,NM_002037.5;FYN,intron_variant,,ENST00000356013,;FYN,intron_variant,,ENST00000368667,;FYN,intron_variant,,ENST00000229471,NM_153048.3;FYN,downstream_gene_variant,,ENST00000523238,;FYN,downstream_gene_variant,,ENST00000518295,;FYN,downstream_gene_variant,,ENST00000462856,;FYN,downstream_gene_variant,,ENST00000520518,;FYN,downstream_gene_variant,,ENST00000517419,;FYN,intron_variant,,ENST00000476769,;FYN,intron_variant,,ENST00000496864,;FYN,upstream_gene_variant,,ENST00000471959,;FYN,downstream_gene_variant,,ENST00000523322,;FYN,upstream_gene_variant,,ENST00000467921,;FYN,downstream_gene_variant,,ENST00000495927,;FYN,downstream_gene_variant,,ENST00000467899,;FYN,downstream_gene_variant,,ENST00000495935,;							MODIFIER	-/1614		FYN_HUMAN			Transcript			.	ENSP00000346671		CCDS5094.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	71	6	.	.	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33C	ENST00000349496	pathogenic	ENSG00000168036	2514		77	2.46		HGNC	p.S33C	rs121913400,COSM5677	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266101,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	378/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	98/2346	S33C	CTNB1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000344456		CCDS2694.1			1	
TP53	0	LGGM	GRCh37	17	7577022	7577022	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	36	6	.	.	ENST00000269305.4:c.916C>T	p.Arg306Ter	p.R306*	ENST00000269305	NM_001126112.2	306	Cga/Tga	0	1	1	UPI000002ED67	0	NA	ENST00000269305	pathogenic	ENSG00000141510	11998		42	0		HGNC	p.R306X	rs121913344,TP53_g.13896C>T,COSM10663,COSM99947,COSM3388168,COSM1640820	TP53		SNV			1			1,0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577022,G,A&fts=all		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6		R/*		A	NA	1106/2579		NA		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			YES	TP53,stop_gained,p.Arg306Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg306Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg306Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg306Ter,ENST00000445888,;TP53,stop_gained,p.Arg306Ter,ENST00000359597,;TP53,stop_gained,p.Arg174Ter,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,;					0,0,1,1,1,1		HIGH	916/1182	R306*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
WWC2	0	LGGM	GRCh37	4	184182107	184182107	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	83	7	.	.	ENST00000403733.3:c.1331G>A	p.Gly444Asp	p.G444D	ENST00000403733	NM_024949.5	444	gGt/gAt	0	1	1	UPI000022C4C2	0	NA	ENST00000403733		ENSG00000151718	24148		90	2.845		HGNC	p.G444D		WWC2		SNV							ENST00000448232	protein_coding	getma.org/?cm=var&var=hg19,4,184182107,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26		G/D		A	medium	1530/8826		getma.org/?cm=msa&ty=f&p=WWC2_HUMAN&rb=434&re=633&var=G444D	deleterious(0.02)				YES	WWC2,missense_variant,p.Gly444Asp,ENST00000403733,NM_024949.5;WWC2,missense_variant,p.Gly444Asp,ENST00000448232,;WWC2,missense_variant,p.Gly126Asp,ENST00000504005,;WWC2,missense_variant,p.Gly444Asp,ENST00000513834,;WWC2,missense_variant,p.Gly346Asp,ENST00000378925,;WWC2,upstream_gene_variant,,ENST00000506225,;WWC2,missense_variant,p.Gly346Asp,ENST00000438543,;WWC2,3_prime_UTR_variant,,ENST00000427431,;							MODERATE	1331/3579	G444D	WWC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384222		CCDS34109.2			1	
FAM160B1	0	LGGM	GRCh37	10	116606351	116606351	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	58	7	.	.	ENST00000369248.4:c.1432C>G	p.Leu478Val	p.L478V	ENST00000369248	NM_020940.3	478	Ctt/Gtt	0	1	1	UPI0000160B10	0	NA	ENST00000369248		ENSG00000151553	29320		65	2.365		HGNC	p.L478V		FAM160B1		SNV							ENST00000369248	protein_coding	getma.org/?cm=var&var=hg19,10,116606351,C,G&fts=all		Pfam_domain:PF10257,hmmpanther:PTHR21705:SF2,hmmpanther:PTHR21705		L/V		G	medium	1767/5806		getma.org/?cm=msa&ty=f&p=F16B1_HUMAN&rb=78&re=495&var=L478V	deleterious(0)				YES	FAM160B1,missense_variant,p.Leu478Val,ENST00000369248,NM_020940.3;FAM160B1,missense_variant,p.Leu478Val,ENST00000369250,NM_001135051.1;							MODERATE	1432/2298	L478V	F16B1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000358251		CCDS31290.1			1	
TRBV5-1	0	LGGM	GRCh37	7	142021321	142021321	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	48	7	.	.	ENST00000390381.3:c.301G>T	p.Glu101Ter	p.E101*	ENST00000390381		101	Gag/Tag	0	1	1	UPI0000115AB0	0		ENST00000390381		ENSG00000211734	12218		55			HGNC	p.E101X		TRBV5-1		SNV							ENST00000390381	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF21,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		E/*		T		610/652				A0A578_HUMAN			YES	TRBV5-1,stop_gained,p.Glu101Ter,ENST00000390381,;							HIGH	301/343					Transcript			.	ENSP00000374904					1	
CACNA1D	0	LGGM	GRCh37	3	53839136	53839136	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	62	7	.	.	ENST00000288139.4:c.5772A>G	p.Arg1924=	p.R1924=	ENST00000288139	NM_000720.3	1924	agA/agG	0	1		UPI000013DEF4	0		ENST00000350061		ENSG00000157388	1391		69			HGNC	p.R1597R		CACNA1D		SNV			1				ENST00000481478	protein_coding			Low_complexity_(Seg):seg		R		G		6223/7636								CACNA1D,synonymous_variant,p.=,ENST00000288139,NM_000720.3;CACNA1D,synonymous_variant,p.=,ENST00000350061,NM_001128840.2;CACNA1D,synonymous_variant,p.=,ENST00000422281,NM_001128839.2;CACNA1D,synonymous_variant,p.=,ENST00000481478,;CACNA1D,synonymous_variant,p.=,ENST00000544977,;							LOW	5712/6486		CAC1D_HUMAN			Transcript			.	ENSP00000288133		CCDS46848.1			1	
CDH7	0	LGGM	GRCh37	18	63526222	63526222	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	75	7	.	.	ENST00000397968.2:c.1434C>T	p.Asn478=	p.N478=	ENST00000397968	NM_004361.2	478	aaC/aaT	0	1		UPI000013D269	0		ENST00000323011		ENSG00000081138	1766	8.70E-05	82			HGNC	p.N478N	rs775706195	CDH7	0.000121	SNV							ENST00000536984	protein_coding			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		N		T		1759/2728	3.00E-05							CDH7,synonymous_variant,p.=,ENST00000536984,;CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;	0.000116						LOW	1434/2358		CADH7_HUMAN			Transcript			.	ENSP00000319166	4.94E-05	CCDS11993.1			1	
FCRL3	0	LGGM	GRCh37	1	157650531	157650531	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	60	7	.	.	ENST00000368184.3:c.1987T>A	p.Ser663Thr	p.S663T	ENST00000368184	NM_052939.3	663	Tcc/Acc	0	1	1	UPI000006D60E	0	NA	ENST00000368184		ENSG00000160856	18506		67	1.995		HGNC	p.S663T		FCRL3		SNV			1				ENST00000368186	protein_coding	getma.org/?cm=var&var=hg19,1,157650531,A,T&fts=all		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF35		S/T		T	medium	2279/4725		getma.org/?cm=msa&ty=f&p=FCRL3_HUMAN&rb=549&re=734&var=S663T	tolerated(0.07)	R4GNJ6_HUMAN			YES	FCRL3,missense_variant,p.Ser663Thr,ENST00000368184,NM_052939.3;FCRL3,missense_variant,p.Ser663Thr,ENST00000368186,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000468507,;FCRL3,upstream_gene_variant,,ENST00000457799,;FCRL3,missense_variant,p.Ser669Thr,ENST00000492769,;FCRL3,missense_variant,p.Ser663Thr,ENST00000485028,;FCRL3,missense_variant,p.Ser568Thr,ENST00000477837,;							MODERATE	1987/2205	S663T	FCRL3_HUMAN			Transcript		benign(0.317)	.	ENSP00000357167		CCDS1167.1			1	
CCL4	0	LGGM	GRCh37	17	34431941	34431941	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	121	7	.	.	ENST00000250151.4:c.97G>A	p.Ala33Thr	p.A33T	ENST00000250151	NM_002984.2	33	Gcc/Acc	0	1	1	UPI00001362CC	0		ENST00000250151		ENSG00000129277	10630		128			HGNC	p.A33T	rs751043350	CCL4		SNV							ENST00000250151	protein_coding			hmmpanther:PTHR12015:SF80,hmmpanther:PTHR12015,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117		A/T		A		413/904	3.26E-05		tolerated(0.08)				YES	CCL4,missense_variant,p.Ala33Thr,ENST00000250151,NM_002984.2;CCL4,intron_variant,,ENST00000394495,;CCL4,non_coding_transcript_exon_variant,,ENST00000591883,;							MODERATE	97/279		CCL4_HUMAN			Transcript		benign(0.144)	.	ENSP00000250151	1.65E-05	CCDS11308.1			1	
RNF165	0	LGGM	GRCh37	18	44013446	44013446	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	31	7	.	.	ENST00000269439.7:c.355C>T	p.Arg119Cys	p.R119C	ENST00000269439	NM_152470.2	119	Cgc/Tgc	0	1	1	UPI00001C0E38	0	NA	ENST00000269439		ENSG00000141622	31696		38	1.845		HGNC	p.R119C		RNF165		SNV							ENST00000269439	protein_coding	getma.org/?cm=var&var=hg19,18,44013446,C,T&fts=all		hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF4,Low_complexity_(Seg):seg		R/C		T	low	406/7596		getma.org/?cm=msa&ty=f&p=RN165_HUMAN&rb=20&re=270&var=R119C	deleterious(0)	K7EQ96_HUMAN			YES	RNF165,missense_variant,p.Arg119Cys,ENST00000269439,NM_152470.2;RNF165,missense_variant,p.Arg52Cys,ENST00000593230,;RNF165,intron_variant,,ENST00000543885,NM_001256758.1;RNF165,intron_variant,,ENST00000586604,;							MODERATE	355/1041	R119C	RN165_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000269439		CCDS32823.1			1	
MROH9	0	LGGM	GRCh37	1	170927619	170927619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	75	7	.	.	ENST00000367759.4:c.90C>A	p.Ser30Arg	p.S30R	ENST00000367759	NM_001163629.1	30	agC/agA	0	1		UPI0000470977	0	NA	ENST00000367758		ENSG00000117501	26287		82	0.69		HGNC	p.S30R		MROH9		SNV							ENST00000367759	protein_coding	getma.org/?cm=var&var=hg19,1,170927619,C,A&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5		S/R		A	neutral	189/2227		getma.org/?cm=msa&ty=f&p=CA129_HUMAN&rb=30&re=530&var=S30R	tolerated(0.28)					MROH9,missense_variant,p.Ser30Arg,ENST00000367759,NM_001163629.1;MROH9,missense_variant,p.Ser30Arg,ENST00000367758,NM_025063.2;							MODERATE	90/1722	S30R	MROH9_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000356732		CCDS41436.1			1	
MET	0	LGGM	GRCh37	7	116339674	116339674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	67	7	.	.	ENST00000397752.3:c.536C>T	p.Ala179Val	p.A179V	ENST00000397752	NM_000245.2	179	gCc/gTc	0	1		UPI000020F975	0	getma.org/pdb.php?prot=MET_HUMAN&from=52&to=500&var=A179V	ENST00000397752		ENSG00000105976	7029		74	1.31		HGNC	p.A198V		MET		SNV			1				ENST00000437703	protein_coding	getma.org/?cm=var&var=hg19,7,116339674,C,T&fts=all		PROSITE_profiles:PS51004,Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,SMART_domains:SM00630,Superfamily_domains:SSF101912		A/V		T	low	736/6635		getma.org/?cm=msa&ty=f&p=MET_HUMAN&rb=52&re=500&var=A179V	deleterious(0.04)	Q9UEJ3_HUMAN,B4DPY6_HUMAN,B4DLF5_HUMAN				MET,missense_variant,p.Ala179Val,ENST00000397752,NM_000245.2,NM_001127500.1;MET,missense_variant,p.Ala179Val,ENST00000318493,;MET,missense_variant,p.Ala179Val,ENST00000436117,;MET,downstream_gene_variant,,ENST00000456159,;							MODERATE	536/4173	A179V	MET_HUMAN			Transcript		benign(0.019)	.	ENSP00000380860		CCDS43636.1			1	
KANK4	0	LGGM	GRCh37	1	62739955	62739955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	25	7	.	.	ENST00000371153.4:c.821A>G	p.Glu274Gly	p.E274G	ENST00000371153	NM_181712.4	274	gAg/gGg	0	1	1	UPI000022AE73	0	NA	ENST00000371153		ENSG00000132854	27263		32	0.895		HGNC	p.E274G		KANK4		SNV							ENST00000371153	protein_coding	getma.org/?cm=var&var=hg19,1,62739955,T,C&fts=all		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20		E/G		C	low	1200/4665		getma.org/?cm=msa&ty=f&p=KANK4_HUMAN&rb=80&re=637&var=E274G	deleterious(0.03)	B1ALP6_HUMAN,B1ALP5_HUMAN			YES	KANK4,missense_variant,p.Glu274Gly,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;							MODERATE	821/2988	E274G	KANK4_HUMAN			Transcript		benign(0)	.	ENSP00000360195		CCDS620.1			1	
SCN2A	0	LGGM	GRCh37	2	166246020	166246020	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	55	7	.	.	ENST00000357398.3:c.5704C>T	p.Arg1902Cys	p.R1902C	ENST00000357398		1902	Cgc/Tgc	0	1		UPI00001279C9	0	getma.org/pdb.php?prot=SCN2A_HUMAN&from=1776&to=1975&var=R1902C	ENST00000283256		ENSG00000136531	10588		62	3.16		HGNC	p.R1902C	rs367833365,COSM3568882,COSM3568881	SCN2A		SNV	T:0.0002		1	9.62E-05		0,1,1	ENST00000283256	protein_coding	getma.org/?cm=var&var=hg19,2,166246020,C,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133		R/C	T:0	T	medium	5860/8403	4.50E-05	getma.org/?cm=msa&ty=f&p=SCN2A_HUMAN&rb=1776&re=1975&var=R1902C	deleterious(0)	F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,missense_variant,p.Arg1902Cys,ENST00000357398,;SCN2A,missense_variant,p.Arg1902Cys,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Arg1902Cys,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Arg1902Cys,ENST00000375427,NM_001040143.1;					0,1,1		MODERATE	5704/6018	R1902C	SCN2A_HUMAN	0.000151		Transcript		probably_damaging(0.999)	.	ENSP00000283256	4.12E-05	CCDS33314.1			1	
PTPN13	0	LGGM	GRCh37	4	87687591	87687591	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	114	8	.	.	ENST00000436978.1:c.4265G>A	p.Arg1422His	p.R1422H	ENST00000436978	NM_080685.2	1422	cGc/cAc	0	1		UPI0000132973	0	getma.org/pdb.php?prot=PTN13_HUMAN&from=1368&to=1450&var=R1417H	ENST00000411767		ENSG00000163629	9646	0.000117	122	1.895		HGNC	p.R1422H	rs528674242,COSM1222520	PTPN13		SNV						0,1	ENST00000436978	protein_coding	getma.org/?cm=var&var=hg19,4,87687591,G,A&fts=all	A:0	Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF000933,PROSITE_profiles:PS50106,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/H		A	low	4313/8119	3.80E-05	getma.org/?cm=msa&ty=f&p=PTN13_HUMAN&rb=1368&re=1450&var=R1417H	deleterious(0)	D6R9X4_HUMAN	A:0.0014	A:0		PTPN13,missense_variant,p.Arg1422His,ENST00000436978,NM_080685.2,NM_080683.2;PTPN13,missense_variant,p.Arg1398His,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Arg1417His,ENST00000411767,;PTPN13,missense_variant,p.Arg1422His,ENST00000511467,;PTPN13,missense_variant,p.Arg1226His,ENST00000316707,NM_080684.2;PTPN13,non_coding_transcript_exon_variant,,ENST00000511105,;PTPN13,downstream_gene_variant,,ENST00000508063,;		A:0.0002			0,1		MODERATE	4250/7458	R1417H	PTN13_HUMAN		A:0	Transcript		probably_damaging(0.998)	.	ENSP00000407249	2.48E-05	CCDS47094.1		A:0	1	
ZNF827	0	LGGM	GRCh37	4	146807075	146807075	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	52	8	.	.	ENST00000379448.4:c.1502T>C	p.Met501Thr	p.M501T	ENST00000379448	NM_178835.3	501	aTg/aCg	0	1		UPI0000DA58F8	0	NA	ENST00000508784		ENSG00000151612	27193		60	0		HGNC	p.M501T		ZNF827		SNV							ENST00000379448	protein_coding	getma.org/?cm=var&var=hg19,4,146807075,A,G&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4		M/T		G	neutral	1730/7463		getma.org/?cm=msa&ty=f&p=ZN827_HUMAN&rb=486&re=544&var=M501T	tolerated(0.53)					ZNF827,missense_variant,p.Met501Thr,ENST00000508784,;ZNF827,missense_variant,p.Met501Thr,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Met151Thr,ENST00000513320,;ZNF827,intron_variant,,ENST00000508995,;ZNF827,upstream_gene_variant,,ENST00000513840,;							MODERATE	1502/3246	M501T	ZN827_HUMAN			Transcript		benign(0)	.	ENSP00000421863					1	
OR10S1	0	LGGM	GRCh37	11	123847993	123847993	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	28	8	.	.	ENST00000531945.1:c.406C>A	p.Arg136Ser	p.R136S	ENST00000531945	NM_001004474.1	136	Cgc/Agc	0	1	1	UPI00001A7787	0	getma.org/pdb.php?prot=O10S1_HUMAN&from=1&to=152&var=R136S	ENST00000531945		ENSG00000196248	14807		36	3.78		HGNC	p.R136S		OR10S1		SNV							ENST00000531945	protein_coding	getma.org/?cm=var&var=hg19,11,123847993,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF205,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		R/S		T	high	496/1121		getma.org/?cm=msa&ty=f&p=O10S1_HUMAN&rb=1&re=152&var=R136S	deleterious(0)				YES	OR10S1,missense_variant,p.Arg136Ser,ENST00000531945,NM_001004474.1;							MODERATE	406/996	R136S	O10S1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000431914		CCDS31701.1			1	
BASP1	0	LGGM	GRCh37	5	17275410	17275410	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	28	8	.	.	ENST00000322611.3:c.85G>A	p.Ala29Thr	p.A29T	ENST00000322611	NM_006317.4	29	Gcg/Acg	0	1	1	UPI0000140E98	0	NA	ENST00000322611		ENSG00000176788	957		36	1.04		HGNC	p.A29T	rs763499239	BASP1		SNV							ENST00000322611	protein_coding	getma.org/?cm=var&var=hg19,5,17275410,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466		A/T		A	low	345/1878	1.61E-05	getma.org/?cm=msa&ty=f&p=BASP1_HUMAN&rb=2&re=227&var=A29T	tolerated(0.37)	U3KQP0_HUMAN			YES	BASP1,missense_variant,p.Ala29Thr,ENST00000322611,NM_006317.4,NM_001271606.1;BASP1,missense_variant,p.Ala29Thr,ENST00000606445,;							MODERATE	85/684	A29T	BASP1_HUMAN			Transcript		unknown(0)	.	ENSP00000319281	8.24E-06	CCDS3888.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121650923	121650923	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	41	8	.	.	ENST00000393386.2:c.1823T>C	p.Ile608Thr	p.I608T	ENST00000393386	NM_001206838.1	608	aTa/aCa	0	1	1	UPI000020F9BB	0	NA	ENST00000393386		ENSG00000106278	9685		49	0.345		HGNC	p.I608T		PTPRZ1		SNV							ENST00000393386	protein_coding	getma.org/?cm=var&var=hg19,7,121650923,T,C&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214		I/T		C	neutral	2234/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=421&re=1661&var=I608T	tolerated_low_confidence(0.32)				YES	PTPRZ1,missense_variant,p.Ile608Thr,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Ile608Thr,ENST00000449182,NM_001206839.1;PTPRZ1,upstream_gene_variant,,ENST00000483028,;							MODERATE	1823/6948	I608T	PTPRZ_HUMAN			Transcript		benign(0.002)	.	ENSP00000377047		CCDS34740.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	64	8	.	.	ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37C	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		72	2.485		HGNC	p.S37C	rs121913403,COSM5679	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266113,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	390/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	110/2346	S37C	CTNB1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000344456		CCDS2694.1			1	
ZNF687	0	LGGM	GRCh37	1	151262012	151262012	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	47	9	.	.	ENST00000324048.5:c.2630T>C	p.Leu877Pro	p.L877P	ENST00000324048		877	cTc/cCc	0	1	1	UPI00000721F7	0	NA	ENST00000324048		ENSG00000143373	29277		56	1.795		HGNC	p.L877P		ZNF687		SNV							ENST00000368879	protein_coding	getma.org/?cm=var&var=hg19,1,151262012,T,C&fts=all		Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF108,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/P		C	low	3600/5378		getma.org/?cm=msa&ty=f&p=ZN687_HUMAN&rb=838&re=901&var=L877P	deleterious(0)				YES	ZNF687,missense_variant,p.Leu877Pro,ENST00000324048,;ZNF687,missense_variant,p.Leu877Pro,ENST00000336715,;ZNF687,missense_variant,p.Leu877Pro,ENST00000368879,NM_020832.1;ZNF687,missense_variant,p.Leu480Pro,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000368875,NM_002651.2;PI4KB,downstream_gene_variant,,ENST00000368874,NM_001198774.1;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000368872,NM_001198773.1;PI4KB,downstream_gene_variant,,ENST00000529142,NM_001198775.1;PI4KB,downstream_gene_variant,,ENST00000455060,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000489889,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,non_coding_transcript_exon_variant,,ENST00000459919,;ZNF687,intron_variant,,ENST00000449313,;							MODERATE	2630/3714	L877P	ZN687_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000319829		CCDS992.1			1	
JAK2	0	LGGM	GRCh37	9	5054789	5054789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	64	9	.	.	ENST00000381652.3:c.841G>T	p.Gly281Cys	p.G281C	ENST00000381652	NM_004972.3	281	Ggt/Tgt	0	1	1	UPI000012DA9E	0	NA	ENST00000381652		ENSG00000096968	6192		73	1.1		HGNC	p.G132C		JAK2		SNV			1				ENST00000544510	protein_coding	getma.org/?cm=var&var=hg19,9,5054789,G,T&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,PIRSF_domain:PIRSF000636,Superfamily_domains:SSF50729		G/C		T	low	1335/5285		getma.org/?cm=msa&ty=f&p=JAK2_HUMAN&rb=37&re=380&var=G281C	deleterious(0)	Q8IXP2_HUMAN,F5H5U8_HUMAN			YES	JAK2,missense_variant,p.Gly281Cys,ENST00000381652,NM_004972.3;JAK2,missense_variant,p.Gly281Cys,ENST00000539801,;JAK2,missense_variant,p.Gly132Cys,ENST00000544510,;							MODERATE	841/3399	G281C	JAK2_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000371067		CCDS6457.1			1	
ORC3	0	LGGM	GRCh37	6	88344572	88344572	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	60	9	.	.	ENST00000257789.4:c.1195C>A	p.Gln399Lys	p.Q399K	ENST00000257789		399	Caa/Aaa	0	1		UPI0000130E5D	0	NA	ENST00000392844		ENSG00000135336	8489		69	1.935		HGNC	p.Q346K		ORC3		SNV							ENST00000417380	protein_coding	getma.org/?cm=var&var=hg19,6,88344572,C,A&fts=all		hmmpanther:PTHR12748,hmmpanther:PTHR12748:SF0		Q/K		A	medium	1243/2512		getma.org/?cm=msa&ty=f&p=ORC3_HUMAN&rb=345&re=544&var=Q399K	tolerated(0.13)	U3KQL3_HUMAN				ORC3,missense_variant,p.Gln399Lys,ENST00000392844,NM_181837.2,NM_012381.3;ORC3,missense_variant,p.Gln399Lys,ENST00000257789,;ORC3,missense_variant,p.Gln256Lys,ENST00000546266,NM_001197259.1;ORC3,missense_variant,p.Gln346Lys,ENST00000417380,;							MODERATE	1195/2136	Q399K	ORC3_HUMAN			Transcript		benign(0.009)	.	ENSP00000376586		CCDS43486.1			1	
UBE2K	0	LGGM	GRCh37	4	39739055	39739055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	30	9	.	.	ENST00000261427.5:c.79A>G	p.Ile27Val	p.I27V	ENST00000261427	NM_005339.4	27	Att/Gtt	0	1	1	UPI0000003FF1	0	getma.org/pdb.php?prot=UBE2K_HUMAN&from=8&to=149&var=I27V	ENST00000261427		ENSG00000078140	4914		39	1.125		HGNC	p.I27V		UBE2K		SNV							ENST00000295963	protein_coding	getma.org/?cm=var&var=hg19,4,39739055,A,G&fts=all		PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF83,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495		I/V		G	low	363/5245		getma.org/?cm=msa&ty=f&p=UBE2K_HUMAN&rb=8&re=149&var=I27V	tolerated(0.16)	B3KSH4_HUMAN			YES	UBE2K,missense_variant,p.Ile27Val,ENST00000261427,NM_005339.4,NM_001111112.1;UBE2K,missense_variant,p.Ile27Val,ENST00000445950,;UBE2K,missense_variant,p.Ile27Val,ENST00000295963,;UBE2K,missense_variant,p.Ile27Val,ENST00000510934,;UBE2K,intron_variant,,ENST00000503368,NM_001111113.1;UBE2K,non_coding_transcript_exon_variant,,ENST00000438068,;UBE2K,intron_variant,,ENST00000513231,;UBE2K,intron_variant,,ENST00000510719,;							MODERATE	79/603	I27V	UBE2K_HUMAN			Transcript		benign(0.144)	.	ENSP00000261427		CCDS33976.1			1	
SGMS1	0	LGGM	GRCh37	10	52087047	52087047	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	43	9	.	.	ENST00000361781.2:c.659G>A	p.Gly220Asp	p.G220D	ENST00000361781	NM_147156.3	220	gGc/gAc	0	1	1	UPI000000D9FC	0	NA	ENST00000361781		ENSG00000198964	29799		52	1.855		HGNC	p.G51D		SGMS1		SNV							ENST00000429490	protein_coding	getma.org/?cm=var&var=hg19,10,52087047,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR21290,hmmpanther:PTHR21290:SF28		G/D		T	low	1619/3744		getma.org/?cm=msa&ty=f&p=SMS1_HUMAN&rb=80&re=279&var=G226D	deleterious(0)	R4GNI5_HUMAN,D3DWC4_HUMAN,E6ZCI7_HUMAN			YES	SGMS1,missense_variant,p.Gly220Asp,ENST00000361781,NM_147156.3;SGMS1,missense_variant,p.Gly51Asp,ENST00000429490,;SGMS1,3_prime_UTR_variant,,ENST00000361543,;SGMS1,5_prime_UTR_variant,,ENST00000602619,;							MODERATE	659/1242	G226D				Transcript		benign(0.221)	.	ENSP00000354829		CCDS7240.1			1	
PHACTR4	0	LGGM	GRCh37	1	28818250	28818250	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	56	9	.	.	ENST00000373836.3:c.1997A>G	p.Tyr666Cys	p.Y666C	ENST00000373836	NM_023923.3	666	tAt/tGt	0	1		UPI000007419C	0	NA	ENST00000373839		ENSG00000204138	25793		65	3.465		HGNC	p.Y656C		PHACTR4		SNV							ENST00000373839	protein_coding	getma.org/?cm=var&var=hg19,1,28818250,A,G&fts=all		hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4		Y/C		G	medium	2228/6190		getma.org/?cm=msa&ty=f&p=PHAR4_HUMAN&rb=647&re=702&var=Y656C	deleterious(0)					PHACTR4,missense_variant,p.Tyr656Cys,ENST00000373839,NM_001048183.1;PHACTR4,missense_variant,p.Tyr666Cys,ENST00000373836,NM_023923.3;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;							MODERATE	1967/2109	Y656C	PHAR4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000362945		CCDS41293.1			1	
CSMD2	0	LGGM	GRCh37	1	34401360	34401360	+	splice_donor_variant,NMD_transcript_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	22	10	.	.	ENST00000241312.4:c.592+1G>A		p.X198_splice	ENST00000241312				0	1	1	UPI00004561AB	0		ENST00000241312		ENSG00000121904	19290		32			HGNC	-	rs764000361	CSMD2		SNV							ENST00000241312	nonsense_mediated_decay							T		-/13108	1.58E-05						YES	CSMD2,splice_donor_variant,,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,splice_donor_variant,,ENST00000241312,;							HIGH	592/10464		CSMD2_HUMAN			Transcript			.	ENSP00000241312	8.24E-06	CCDS380.1			1	
THAP4	0	LGGM	GRCh37	2	242542460	242542460	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	34	10	.	.	ENST00000407315.1:c.1435A>T	p.Met479Leu	p.M479L	ENST00000407315	NM_015963.5	479	Atg/Ttg	0	1	1	UPI000018DBC4	0	getma.org/pdb.php?prot=THAP4_HUMAN&from=420&to=575&var=M479L	ENST00000407315		ENSG00000176946	23187		44	0.225		HGNC	p.M67L		THAP4		SNV							ENST00000402545	protein_coding	getma.org/?cm=var&var=hg19,2,242542460,T,A&fts=all		Superfamily_domains:SSF50814,Pfam_domain:PF08768,hmmpanther:PTHR15854,hmmpanther:PTHR15854:SF0		M/L		A	neutral	1867/2367		getma.org/?cm=msa&ty=f&p=THAP4_HUMAN&rb=420&re=575&var=M479L	tolerated(0.48)				YES	THAP4,missense_variant,p.Met479Leu,ENST00000407315,NM_015963.5;THAP4,missense_variant,p.Met67Leu,ENST00000402545,;THAP4,missense_variant,p.Met67Leu,ENST00000402136,NM_001164356.1;THAP4,upstream_gene_variant,,ENST00000497486,;THAP4,upstream_gene_variant,,ENST00000321679,;							MODERATE	1435/1734	M479L	THAP4_HUMAN			Transcript		benign(0.026)	.	ENSP00000385006		CCDS2551.1			1	
ZNF12	0	LGGM	GRCh37	7	6730976	6730976	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	166	10	.	.	ENST00000405858.1:c.1597A>G	p.Asn533Asp	p.N533D	ENST00000405858	NM_016265.3	533	Aac/Gac	0	1	1	UPI000020EAF7	0	getma.org/pdb.php?prot=ZNF12_HUMAN&from=533&to=534&var=N533D	ENST00000405858		ENSG00000164631	12902		176	1.19		HGNC	p.N495D		ZNF12		SNV							ENST00000342651	protein_coding	getma.org/?cm=var&var=hg19,7,6730976,T,C&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF85,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/D		C	low	2139/5051		getma.org/?cm=msa&ty=f&p=ZNF12_HUMAN&rb=503&re=564&var=N533D	deleterious(0)				YES	ZNF12,missense_variant,p.Asn533Asp,ENST00000405858,NM_016265.3,NM_006956.2;ZNF12,missense_variant,p.Asn459Asp,ENST00000404360,;ZNF12,missense_variant,p.Asn495Asp,ENST00000342651,;AC073343.2,upstream_gene_variant,,ENST00000577401,;AC073343.13,intron_variant,,ENST00000366167,;							MODERATE	1597/2094	N533D	ZNF12_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000385939		CCDS47538.1			1	
ADAM18	0	LGGM	GRCh37	8	39521348	39521348	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	30	10	.	.	ENST00000265707.5:c.1265C>G	p.Thr422Arg	p.T422R	ENST00000265707	NM_014237.2	422	aCa/aGa	0	1	1	UPI00001254D7	0	getma.org/pdb.php?prot=ADA18_HUMAN&from=399&to=477&var=T422R	ENST00000265707		ENSG00000168619	196		40	2.995		HGNC	p.T398R		ADAM18		SNV							ENST00000379866	protein_coding	getma.org/?cm=var&var=hg19,8,39521348,C,G&fts=all		PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552		T/R		G	medium	1310/2388		getma.org/?cm=msa&ty=f&p=ADA18_HUMAN&rb=399&re=477&var=T422R	tolerated(0.15)	Q0VAI3_HUMAN,E5RK96_HUMAN			YES	ADAM18,missense_variant,p.Thr422Arg,ENST00000265707,NM_014237.2;ADAM18,missense_variant,p.Thr398Arg,ENST00000379866,;ADAM18,5_prime_UTR_variant,,ENST00000541111,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;							MODERATE	1265/2220	T422R	ADA18_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265707		CCDS6113.1			1	
MOV10L1	0	LGGM	GRCh37	22	50591485	50591485	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	90	10	.	.	ENST00000262794.5:c.2904G>T	p.Leu968=	p.L968=	ENST00000262794	NM_018995.2	968	ctG/ctT	0	1	1	UPI00000421FB	0		ENST00000262794		ENSG00000073146	7201		100			HGNC	p.L11L		MOV10L1		SNV							ENST00000354853	protein_coding			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF321,Pfam_domain:PF13087,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		L		T		2987/3960							YES	MOV10L1,synonymous_variant,p.=,ENST00000262794,NM_018995.2;MOV10L1,synonymous_variant,p.=,ENST00000540615,NM_001164105.1;MOV10L1,synonymous_variant,p.=,ENST00000545383,;MOV10L1,synonymous_variant,p.=,ENST00000395858,NM_001164104.1;MOV10L1,synonymous_variant,p.=,ENST00000395843,;MOV10L1,synonymous_variant,p.=,ENST00000354853,;MOV10L1,synonymous_variant,p.=,ENST00000395852,NM_001164106.1;							LOW	2904/3636		M10L1_HUMAN			Transcript			.	ENSP00000262794		CCDS14084.1			1	
ALPK2	0	LGGM	GRCh37	18	56196406	56196406	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	97	10	.	.	ENST00000361673.3:c.5418A>G	p.Leu1806=	p.L1806=	ENST00000361673	NM_052947.3	1806	ttA/ttG	0	1	1	UPI000022A768	0		ENST00000361673		ENSG00000198796	20565		107			HGNC	p.L1806L		ALPK2		SNV							ENST00000361673	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		L		C		5632/7303							YES	ALPK2,synonymous_variant,p.=,ENST00000361673,NM_052947.3;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;							LOW	5418/6513		ALPK2_HUMAN			Transcript			.	ENSP00000354991		CCDS11966.2			1	
NRROS	0	LGGM	GRCh37	3	196387645	196387645	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	66	10	.	.	ENST00000328557.4:c.1131G>A	p.Ala377=	p.A377=	ENST00000328557	NM_198565.1	377	gcG/gcA	0	1	1	UPI000000DA7E	0		ENST00000328557		ENSG00000174004	24613		76			HGNC	p.A377A		NRROS		SNV							ENST00000328557	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF245,SMART_domains:SM00369,Superfamily_domains:SSF52047		A		A		1334/2564							YES	NRROS,synonymous_variant,p.=,ENST00000328557,NM_198565.1;PIGX,intron_variant,,ENST00000426755,;							LOW	1131/2079		NRROS_HUMAN			Transcript			.	ENSP00000328625		CCDS3319.1			1	
XIRP2	0	LGGM	GRCh37	2	168107335	168107335	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	87	10	.	.	ENST00000409195.1:c.9433C>A	p.Pro3145Thr	p.P3145T	ENST00000409195	NM_152381.5	3145	Cct/Act	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		97	1.95		HGNC	p.P2923T		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168107335,C,A&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		P/T		A	medium	9522/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=P2970T		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Pro3145Thr,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Pro3145Thr,ENST00000295237,;XIRP2,missense_variant,p.Pro2923Thr,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;							MODERATE	9433/10650	P2970T				Transcript		possibly_damaging(0.804)	.	ENSP00000386840		CCDS42769.1			1	
NDST2	0	LGGM	GRCh37	10	75567273	75567273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	42	10	.	.	ENST00000309979.6:c.874A>G	p.Ile292Val	p.I292V	ENST00000309979		292	Atc/Gtc	0	1		UPI00020658C4	0	NA	ENST00000299641		ENSG00000166507	7681		52	-0.305		HGNC	p.I169V		NDST2		SNV							ENST00000299641	protein_coding	getma.org/?cm=var&var=hg19,10,75567273,T,C&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36		I/V		C	neutral	1476/3789		getma.org/?cm=msa&ty=f&p=NDST2_HUMAN&rb=24&re=514&var=I292V	tolerated(1)	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN				NDST2,missense_variant,p.Ile169Val,ENST00000299641,NM_003635.3;NDST2,missense_variant,p.Ile292Val,ENST00000309979,;CAMK2G,downstream_gene_variant,,ENST00000423381,NM_001204492.1;CAMK2G,downstream_gene_variant,,ENST00000322680,NM_172170.4,NM_172171.2;CAMK2G,downstream_gene_variant,,ENST00000394762,;CAMK2G,downstream_gene_variant,,ENST00000322635,NM_172169.2;CAMK2G,downstream_gene_variant,,ENST00000351293,NM_001222.3,NM_172173.2;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,non_coding_transcript_exon_variant,,ENST00000463410,;NDST2,downstream_gene_variant,,ENST00000398701,;NDST2,downstream_gene_variant,,ENST00000465929,;RP11-574K11.31,missense_variant,p.Ile292Val,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;							MODERATE	505/2283	I292V				Transcript		benign(0.001)	.	ENSP00000299641					1	
PTK2	0	LGGM	GRCh37	8	141753410	141753410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	122	11	.	.	ENST00000340930.3:c.1654G>A	p.Val552Ile	p.V552I	ENST00000340930	NM_001199649.1	552	Gtt/Att	0	1		UPI000012A4FB	0	getma.org/pdb.php?prot=FAK1_HUMAN&from=422&to=676&var=V552I	ENST00000521059		ENSG00000169398	9611		133	0.085		HGNC	p.V552I		PTK2		SNV							ENST00000522684	protein_coding	getma.org/?cm=var&var=hg19,8,141753410,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,PROSITE_patterns:PS00109,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109		V/I		T	neutral	1836/4405		getma.org/?cm=msa&ty=f&p=FAK1_HUMAN&rb=422&re=676&var=V552I	tolerated(0.17)	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN,B4DWJ1_HUMAN				PTK2,missense_variant,p.Val552Ile,ENST00000522684,NM_153831.3;PTK2,missense_variant,p.Val596Ile,ENST00000517887,;PTK2,missense_variant,p.Val552Ile,ENST00000395218,;PTK2,missense_variant,p.Val596Ile,ENST00000519419,;PTK2,missense_variant,p.Val552Ile,ENST00000340930,NM_001199649.1;PTK2,missense_variant,p.Val552Ile,ENST00000521059,NM_005607.4;PTK2,missense_variant,p.Val563Ile,ENST00000519654,;PTK2,missense_variant,p.Val552Ile,ENST00000535192,;PTK2,missense_variant,p.Val180Ile,ENST00000519465,;PTK2,missense_variant,p.Val224Ile,ENST00000523539,;PTK2,missense_variant,p.Val220Ile,ENST00000538769,;PTK2,missense_variant,p.Val250Ile,ENST00000521986,;PTK2,3_prime_UTR_variant,,ENST00000520151,;PTK2,downstream_gene_variant,,ENST00000519024,;PTK2,non_coding_transcript_exon_variant,,ENST00000518509,;PTK2,downstream_gene_variant,,ENST00000523746,;PTK2,downstream_gene_variant,,ENST00000523474,;PTK2,downstream_gene_variant,,ENST00000519361,;PTK2,3_prime_UTR_variant,,ENST00000519993,;PTK2,3_prime_UTR_variant,,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000523670,;PTK2,non_coding_transcript_exon_variant,,ENST00000520917,;PTK2,intron_variant,,ENST00000521250,;PTK2,intron_variant,,ENST00000521029,;PTK2,intron_variant,,ENST00000521981,;PTK2,downstream_gene_variant,,ENST00000519899,;PTK2,downstream_gene_variant,,ENST00000510126,;							MODERATE	1654/3159	V552I	FAK1_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000429474		CCDS6381.1			1	
ARHGAP10	0	LGGM	GRCh37	4	148886239	148886239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	58	11	.	.	ENST00000336498.3:c.1515G>T	p.Lys505Asn	p.K505N	ENST00000336498	NM_024605.3	505	aaG/aaT	0	1	1	UPI000013EA63	0	getma.org/pdb.php?prot=RHG10_HUMAN&from=397&to=551&var=K505N	ENST00000336498		ENSG00000071205	26099		69	1.17		HGNC	p.K154N		ARHGAP10		SNV							ENST00000414545	protein_coding	getma.org/?cm=var&var=hg19,4,148886239,G,T&fts=all		PROSITE_profiles:PS50238,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350		K/N		T	low	1754/3299		getma.org/?cm=msa&ty=f&p=RHG10_HUMAN&rb=397&re=551&var=K505N	deleterious(0.04)	Q8ND72_HUMAN,Q3KQX3_HUMAN			YES	ARHGAP10,missense_variant,p.Lys505Asn,ENST00000336498,NM_024605.3;ARHGAP10,missense_variant,p.Lys183Asn,ENST00000507661,;ARHGAP10,missense_variant,p.Lys154Asn,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;							MODERATE	1515/2361	K505N	RHG10_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000336923		CCDS34075.1			1	
SF1	0	LGGM	GRCh37	11	64532963	64532963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	63	11	.	.	ENST00000377387.1:c.1985G>A	p.Arg662Gln	p.R662Q	ENST00000377387	NM_001178030.1	662	cGa/cAa	0	1		UPI000006EB2E	0		ENST00000377390		ENSG00000168066	12950		74			HGNC	p.R537Q		SF1		SNV							ENST00000227503	protein_coding							T		2585/3470				Q14821_HUMAN,C9J792_HUMAN,B4DJU4_HUMAN				SF1,missense_variant,p.Arg662Gln,ENST00000377387,NM_001178030.1;SF1,missense_variant,p.Arg537Gln,ENST00000227503,NM_201998.2;SF1,missense_variant,p.Arg422Gln,ENST00000422298,;SF1,missense_variant,p.Arg189Gln,ENST00000443908,;SF1,synonymous_variant,p.=,ENST00000334944,NM_201995.2;SF1,synonymous_variant,p.=,ENST00000377394,NM_201997.2;SF1,3_prime_UTR_variant,,ENST00000377390,NM_004630.3;SF1,downstream_gene_variant,,ENST00000433274,NM_001178031.1;SF1,downstream_gene_variant,,ENST00000486867,;SF1,downstream_gene_variant,,ENST00000413725,;SF1,downstream_gene_variant,,ENST00000432725,;SF1,downstream_gene_variant,,ENST00000489544,;SF1,downstream_gene_variant,,ENST00000496969,;SF1,3_prime_UTR_variant,,ENST00000448404,;SF1,downstream_gene_variant,,ENST00000477596,;SF1,downstream_gene_variant,,ENST00000486960,;SF1,downstream_gene_variant,,ENST00000413951,;							MODIFIER	-/1920		SF01_HUMAN			Transcript			.	ENSP00000366607		CCDS31599.1			1	
YPEL3	0	LGGM	GRCh37	16	30104046	30104046	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	31	11	.	.	ENST00000398841.1:c.459C>A	p.Asp153Glu	p.D153E	ENST00000398841	NM_031477.4	153	gaC/gaA	0	1		UPI00000297CA	0	NA	ENST00000398838		ENSG00000090238	18327		42	-0.215		HGNC	p.D153E		YPEL3		SNV							ENST00000398841	protein_coding	getma.org/?cm=var&var=hg19,16,30104046,G,T&fts=all		hmmpanther:PTHR13847:SF179,hmmpanther:PTHR13847		D/E		T	neutral	559/935		getma.org/?cm=msa&ty=f&p=YPEL3_HUMAN&rb=6&re=115&var=D115E	tolerated(0.82)	H3BRF0_HUMAN,H3BME7_HUMAN				YPEL3,missense_variant,p.Asp153Glu,ENST00000398841,NM_031477.4;YPEL3,missense_variant,p.Asp115Glu,ENST00000398838,NM_001145524.1;YPEL3,missense_variant,p.Asp115Glu,ENST00000566595,;YPEL3,missense_variant,p.Asp115Glu,ENST00000563788,;YPEL3,3_prime_UTR_variant,,ENST00000566134,;TBX6,upstream_gene_variant,,ENST00000553607,;YPEL3,downstream_gene_variant,,ENST00000562641,;TBX6,upstream_gene_variant,,ENST00000395224,NM_004608.3;TBX6,upstream_gene_variant,,ENST00000279386,;YPEL3,downstream_gene_variant,,ENST00000565110,;RP11-455F5.3,upstream_gene_variant,,ENST00000515455,;YPEL3,non_coding_transcript_exon_variant,,ENST00000565479,;YPEL3,downstream_gene_variant,,ENST00000568674,;YPEL3,3_prime_UTR_variant,,ENST00000570099,;YPEL3,downstream_gene_variant,,ENST00000568681,;TBX6,upstream_gene_variant,,ENST00000567664,;YPEL3,downstream_gene_variant,,ENST00000566401,;							MODERATE	345/360	D115E	YPEL3_HUMAN			Transcript		benign(0.074)	.	ENSP00000381818		CCDS45459.1			1	
MUC13	0	LGGM	GRCh37	3	124627085	124627085	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	46	11	.	.	ENST00000311075.3:c.1445T>A	p.Val482Asp	p.V482D	ENST00000311075	NM_033049.3	482	gTc/gAc	0	1	1	UPI00001AEF8F	0	NA	ENST00000311075		ENSG00000173702	7511		57	0		HGNC	p.V482D		MUC13		SNV							ENST00000311075	protein_coding	getma.org/?cm=var&var=hg19,3,124627085,A,T&fts=all		hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF21		V/D		T	neutral	1484/2876		getma.org/?cm=msa&ty=f&p=MUC13_HUMAN&rb=325&re=511&var=V482D	deleterious(0)				YES	MUC13,missense_variant,p.Val482Asp,ENST00000311075,NM_033049.3;MUC13,downstream_gene_variant,,ENST00000462728,;							MODERATE	1445/1536	V482D	MUC13_HUMAN			Transcript		benign(0.124)	.	ENSP00000312235					1	
GLI3	0	LGGM	GRCh37	7	42006196	42006196	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	32	11	.	.	ENST00000395925.3:c.2475G>A	p.Thr825=	p.T825=	ENST00000395925	NM_000168.5	825	acG/acA	0	1	1	UPI000020EE4C	0		ENST00000395925		ENSG00000106571	4319		43			HGNC	p.T825T		GLI3		SNV			1				ENST00000395925	protein_coding			hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		T		T		2560/8208				C9J9N4_HUMAN			YES	GLI3,synonymous_variant,p.=,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							LOW	2475/4743		GLI3_HUMAN			Transcript			.	ENSP00000379258		CCDS5465.1			1	
ASPM	0	LGGM	GRCh37	1	197070166	197070166	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	63	11	.	.	ENST00000367409.4:c.8215C>T	p.Gln2739Ter	p.Q2739*	ENST00000367409	NM_018136.4	2739	Cag/Tag	0	1	1	UPI0000458904	0	NA	ENST00000367409		ENSG00000066279	19048		74	0		HGNC	p.Q2739X		ASPM		SNV			1				ENST00000367409	protein_coding	getma.org/?cm=var&var=hg19,1,197070166,G,A&fts=all		PROSITE_profiles:PS50096,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015		Q/*		A	NA	8472/10887		NA					YES	ASPM,stop_gained,p.Gln2739Ter,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;							HIGH	8215/10434	Q2739*	ASPM_HUMAN			Transcript			.	ENSP00000356379		CCDS1389.1			1	
ARHGAP29	0	LGGM	GRCh37	1	94639782	94639782	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	61	11	.	.	ENST00000260526.6:c.3429T>C	p.Ser1143=	p.S1143=	ENST00000260526	NM_004815.3	1143	tcT/tcC	0	1	1	UPI000013D0E4	0		ENST00000260526		ENSG00000137962	30207		72			HGNC	p.S1143S		ARHGAP29		SNV							ENST00000260526	protein_coding			hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF7,Low_complexity_(Seg):seg		S		G		3612/6087							YES	ARHGAP29,synonymous_variant,p.=,ENST00000260526,NM_004815.3;ARHGAP29,downstream_gene_variant,,ENST00000482481,;ARHGAP29,intron_variant,,ENST00000552844,;							LOW	3429/3786		RHG29_HUMAN			Transcript			.	ENSP00000260526		CCDS748.1			1	
SBNO1	0	LGGM	GRCh37	12	123798240	123798240	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	28	12	.	.	ENST00000420886.2:c.3147C>T	p.Val1049=	p.V1049=	ENST00000420886	NM_001167856.1	1049	gtC/gtT	0	1	1	UPI00001FB922	0		ENST00000420886		ENSG00000139697	22973		40			HGNC	p.V1049V		SBNO1		SNV							ENST00000420886	protein_coding			Pfam_domain:PF13871,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8		V		A		3147/10981				Q9NVJ3_HUMAN			YES	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,;							LOW	3147/4182		SBNO1_HUMAN			Transcript			.	ENSP00000387361		CCDS53844.1			1	
SUPT20H	0	LGGM	GRCh37	13	37583826	37583826	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	106	12	.	.	ENST00000350612.6:c.2323A>G	p.Thr775Ala	p.T775A	ENST00000350612	NM_001014286.2	775	Acc/Gcc	0	1	1	UPI00004566E3	0	NA	ENST00000350612		ENSG00000102710	20596		118	1.735		HGNC	p.T775A		SUPT20H		SNV							ENST00000350612	protein_coding	getma.org/?cm=var&var=hg19,13,37583826,T,C&fts=all				T/A		C	low	2544/2739		getma.org/?cm=msa&ty=f&p=FA48A_HUMAN&rb=628&re=779&var=T775A	tolerated(0.22)				YES	SUPT20H,missense_variant,p.Thr775Ala,ENST00000350612,NM_001014286.2;SUPT20H,missense_variant,p.Thr374Ala,ENST00000469488,;SUPT20H,3_prime_UTR_variant,,ENST00000360252,NM_001278481.1,NM_017569.3;SUPT20H,3_prime_UTR_variant,,ENST00000475892,NM_001278480.1;SUPT20H,3_prime_UTR_variant,,ENST00000356185,;SUPT20H,3_prime_UTR_variant,,ENST00000464744,NM_001278482.1;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,;							MODERATE	2323/2340	T775A	SP20H_HUMAN			Transcript		benign(0)	.	ENSP00000218894		CCDS31959.1			1	
FLG	0	LGGM	GRCh37	1	152278687	152278687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	274	12	.	.	ENST00000368799.1:c.8675G>T	p.Ser2892Ile	p.S2892I	ENST00000368799	NM_002016.1	2892	aGc/aTc	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		286	2.3		HGNC	p.S2892I		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152278687,C,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF03516		S/I		A	medium	8711/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2849&re=2900&var=S2892I		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Ser2892Ile,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	8675/12186	S2892I	FILA_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000357789		CCDS30860.1			1	
RSL1D1	0	LGGM	GRCh37	16	11931909	11931909	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	193	12	.	.	ENST00000571133.1:c.1208G>A	p.Arg403His	p.R403H	ENST00000571133	NM_015659.2	403	cGt/cAt	0	1	1	UPI000007374D	0	NA	ENST00000571133		ENSG00000171490	24534	0.00026	205	1.175		HGNC	p.R402H	rs375088154	RSL1D1		SNV	T:0.0002			9.99E-05			ENST00000355674	protein_coding	getma.org/?cm=var&var=hg19,16,11931909,C,T&fts=all				R/H	T:0	T	low	1281/4134	3.01E-05	getma.org/?cm=msa&ty=f&p=RL1D1_HUMAN&rb=271&re=489&var=R403H	tolerated(0.58)	I3L234_HUMAN,B4DJ58_HUMAN			YES	RSL1D1,missense_variant,p.Arg403His,ENST00000571133,NM_015659.2;RSL1D1,missense_variant,p.Arg183His,ENST00000542106,;RSL1D1,missense_variant,p.Arg402His,ENST00000355674,;RSL1D1,downstream_gene_variant,,ENST00000573251,;RSL1D1,3_prime_UTR_variant,,ENST00000396503,;RSL1D1,3_prime_UTR_variant,,ENST00000573029,;RSL1D1,3_prime_UTR_variant,,ENST00000573618,;RSL1D1,downstream_gene_variant,,ENST00000570767,;RSL1D1,downstream_gene_variant,,ENST00000574823,;							MODERATE	1208/1473	R403H	RL1D1_HUMAN			Transcript		benign(0.007)	.	ENSP00000460871	4.94E-05	CCDS10551.1			1	
SH3BP1	0	LGGM	GRCh37	22	38046608	38046608	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	55	13	.	.	ENST00000357436.4:c.1474G>T	p.Asp492Tyr	p.D492Y	ENST00000357436	NM_018957.3	492	Gac/Tac	0	1	1	UPI000004EE00	0	NA	ENST00000357436		ENSG00000100092	10824		68	1.39		HGNC	p.D428Y		SH3BP1		SNV							ENST00000599616	protein_coding	getma.org/?cm=var&var=hg19,22,38046608,G,T&fts=all		hmmpanther:PTHR14130:SF12,hmmpanther:PTHR14130		D/Y		T	low	1787/2852		getma.org/?cm=msa&ty=f&p=3BP1_HUMAN&rb=442&re=500&var=D492Y	deleterious(0)	F8WEQ3_HUMAN			YES	SH3BP1,missense_variant,p.Asp428Tyr,ENST00000599616,;SH3BP1,missense_variant,p.Asp492Tyr,ENST00000357436,NM_018957.3;SH3BP1,3_prime_UTR_variant,,ENST00000442465,;SH3BP1,downstream_gene_variant,,ENST00000336738,;Z83844.1,non_coding_transcript_exon_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,;							MODERATE	1474/2106	D492Y	3BP1_HUMAN			Transcript		benign(0.405)	.	ENSP00000350018		CCDS13952.2			1	
AFF4	0	LGGM	GRCh37	5	132219218	132219218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	55	13	.	.	ENST00000265343.5:c.3178A>G	p.Lys1060Glu	p.K1060E	ENST00000265343	NM_014423.3	1060	Aag/Gag	0	1	1	UPI000006F558	0	NA	ENST00000265343		ENSG00000072364	17869		68	1.79		HGNC	p.K1060E		AFF4		SNV			1				ENST00000265343	protein_coding	getma.org/?cm=var&var=hg19,5,132219218,T,C&fts=all		Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF15		K/E		C	low	3558/9552		getma.org/?cm=msa&ty=f&p=AFF4_HUMAN&rb=2&re=1160&var=K1060E	tolerated(0.13)	C9JCE0_HUMAN			YES	AFF4,missense_variant,p.Lys1060Glu,ENST00000265343,NM_014423.3;							MODERATE	3178/3492	K1060E	AFF4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000265343		CCDS4164.1			1	
EGFLAM	0	LGGM	GRCh37	5	38406240	38406240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	58	13	.	.	ENST00000354891.3:c.725C>A	p.Ala242Glu	p.A242E	ENST00000354891	NM_001205301.1	242	gCg/gAg	0	1	1	UPI000022C806	0	NA	ENST00000354891		ENSG00000164318	26810		71	1.61		HGNC	p.A242E	COSM1734437,COSM1734436	EGFLAM		SNV						1,1	ENST00000354891	protein_coding	getma.org/?cm=var&var=hg19,5,38406240,C,A&fts=all		hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574		A/E		A	low	1071/3963		getma.org/?cm=msa&ty=f&p=EGFLA_HUMAN&rb=229&re=414&var=A242E	tolerated_low_confidence(0.65)	D6RJD2_HUMAN			YES	EGFLAM,missense_variant,p.Ala242Glu,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Ala242Glu,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Ala8Glu,ENST00000336740,NM_182798.2;EGFLAM,intron_variant,,ENST00000397202,;EGFLAM-AS2,upstream_gene_variant,,ENST00000514377,;EGFLAM-AS2,upstream_gene_variant,,ENST00000512603,;					1,1		MODERATE	725/3054	A242E	EGFLA_HUMAN			Transcript		benign(0.004)	.	ENSP00000346964		CCDS56363.1			1	
SNCAIP	0	LGGM	GRCh37	5	121776338	121776338	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	82	13	.	.	ENST00000261368.8:c.1311G>T	p.Leu437=	p.L437=	ENST00000261368	NM_005460.2	437	ctG/ctT	0	1	1	UPI000006D872	0		ENST00000261368		ENSG00000064692	11139		95			HGNC	p.V49L		SNCAIP		SNV			1				ENST00000509023	protein_coding			Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR22882,PROSITE_profiles:PS50297		L		T		1573/3745				D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN			YES	SNCAIP,synonymous_variant,p.=,ENST00000261367,;SNCAIP,synonymous_variant,p.=,ENST00000379533,;SNCAIP,synonymous_variant,p.=,ENST00000261368,NM_005460.2;SNCAIP,synonymous_variant,p.=,ENST00000379536,;SNCAIP,synonymous_variant,p.=,ENST00000503116,;SNCAIP,synonymous_variant,p.=,ENST00000509154,;SNCAIP,synonymous_variant,p.=,ENST00000379538,NM_001242935.1;SNCAIP,synonymous_variant,p.=,ENST00000414317,;SNCAIP,5_prime_UTR_variant,,ENST00000542191,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;CTC-210G5.1,intron_variant,,ENST00000510972,;CTC-210G5.1,intron_variant,,ENST00000509993,;CTC-210G5.1,intron_variant,,ENST00000506053,;CTC-210G5.1,intron_variant,,ENST00000503529,;CTC-210G5.1,downstream_gene_variant,,ENST00000505546,;SNCAIP,missense_variant,p.Val49Leu,ENST00000509023,;SNCAIP,synonymous_variant,p.=,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000510003,;SNCAIP,upstream_gene_variant,,ENST00000513719,;							LOW	1311/2760		SNCAP_HUMAN			Transcript			.	ENSP00000261368		CCDS4131.1			1	
NRG1	0	LGGM	GRCh37	8	32617803	32617803	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	113	13	.	.	ENST00000356819.4:c.1162A>T	p.Ser388Cys	p.S388C	ENST00000356819	NM_013956.3	388	Agc/Tgc	0	1		UPI000013DED6	0	NA	ENST00000405005		ENSG00000157168	7997		126	2.08		HGNC	p.S226C		NRG1		SNV							ENST00000539990	protein_coding	getma.org/?cm=var&var=hg19,8,32617803,A,T&fts=all		Pfam_domain:PF02158,Prints_domain:PR01089,hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF7		S/C		T	medium	1147/1992		getma.org/?cm=msa&ty=f&p=NRG1_HUMAN&rb=235&re=630&var=S383C	deleterious(0)	Q7RTW5_HUMAN,B7Z168_HUMAN				NRG1,missense_variant,p.Ser391Cys,ENST00000338921,;NRG1,missense_variant,p.Ser388Cys,ENST00000356819,NM_013956.3,NM_001159999.1;NRG1,missense_variant,p.Ser354Cys,ENST00000287845,;NRG1,missense_variant,p.Ser456Cys,ENST00000523534,;NRG1,missense_variant,p.Ser380Cys,ENST00000287842,NM_013957.3,NM_001160004.1;NRG1,missense_variant,p.Ser380Cys,ENST00000523079,NM_001160008.1;NRG1,missense_variant,p.Ser383Cys,ENST00000405005,;NRG1,missense_variant,p.Ser333Cys,ENST00000519301,NM_001160001.1;NRG1,missense_variant,p.Ser383Cys,ENST00000521670,NM_013960.3;NRG1,missense_variant,p.Ser226Cys,ENST00000539990,;NRG1,missense_variant,p.Ser350Cys,ENST00000518104,NM_001159995.1;NRG1,3_prime_UTR_variant,,ENST00000341377,NM_013964.3;NRG1,downstream_gene_variant,,ENST00000522402,;NRG1,downstream_gene_variant,,ENST00000519240,;NRG1,downstream_gene_variant,,ENST00000522569,;							MODERATE	1147/1923	S383C	NRG1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000384620		CCDS6085.1			1	
TRAPPC3	0	LGGM	GRCh37	1	36603794	36603794	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	108	14	.	.	ENST00000373166.3:c.241-215C>A		*81*	ENST00000373166	NM_014408.4			0	1	1	UPI0000052E1F	0		ENST00000373166		ENSG00000054116	19942		122			HGNC	p.R94R		TRAPPC3		SNV							ENST00000373159	protein_coding							T		-/1265							YES	TRAPPC3,synonymous_variant,p.=,ENST00000373159,;TRAPPC3,intron_variant,,ENST00000373166,NM_014408.4,NM_001270894.1;TRAPPC3,intron_variant,,ENST00000373162,NM_001270896.1;TRAPPC3,intron_variant,,ENST00000373163,;TRAPPC3,intron_variant,,ENST00000462715,;TRAPPC3,intron_variant,,ENST00000469757,;TRAPPC3,downstream_gene_variant,,ENST00000497251,;							MODIFIER	-/543		TPPC3_HUMAN			Transcript			.	ENSP00000362261		CCDS404.1			1	
C15orf53	0	LGGM	GRCh37	15	38988826	38988826	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	40	14	.	.	ENST00000318792.1:c.18C>A	p.Ala6=	p.A6=	ENST00000318792	NM_207444.2	6	gcC/gcA	0	1	1	UPI000007303A	0		ENST00000318792		ENSG00000175779	33796		54			HGNC	p.A6A		C15orf53		SNV							ENST00000318792	protein_coding					A		A		28/2043							YES	C15orf53,synonymous_variant,p.=,ENST00000318792,NM_207444.2;							LOW	18/540		CO053_HUMAN			Transcript			.	ENSP00000325144		CCDS10048.1			1	
NLRP10	0	LGGM	GRCh37	11	7981534	7981534	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	43	14	.	.	ENST00000328600.2:c.1625C>T	p.Ala542Val	p.A542V	ENST00000328600	NM_176821.3	542	gCg/gTg	0	1	1	UPI0000167F6C	0	NA	ENST00000328600		ENSG00000182261	21464		57	0.345		HGNC	p.A542V		NLRP10		SNV							ENST00000328600	protein_coding	getma.org/?cm=var&var=hg19,11,7981534,G,A&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF103		A/V		A	neutral	1787/2350		getma.org/?cm=msa&ty=f&p=NAL10_HUMAN&rb=532&re=655&var=A542V	tolerated(0.34)	E9PPY0_HUMAN			YES	NLRP10,missense_variant,p.Ala542Val,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;							MODERATE	1625/1968	A542V	NAL10_HUMAN			Transcript		benign(0.008)	.	ENSP00000327763		CCDS7784.1			1	
BMPR2	0	LGGM	GRCh37	2	203419993	203419993	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	32	14	.	.	ENST00000374580.4:c.1605G>A	p.Arg535=	p.R535=	ENST00000374580	NM_001204.6	535	agG/agA	0	1	1	UPI0000126A3B	0		ENST00000374580		ENSG00000204217	1078		46			HGNC	p.R535R		BMPR2		SNV			1				ENST00000374580	protein_coding			hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF63		R		A		2144/11461							YES	BMPR2,synonymous_variant,p.=,ENST00000374580,NM_001204.6;BMPR2,intron_variant,,ENST00000374574,;							LOW	1605/3117		BMPR2_HUMAN			Transcript			.	ENSP00000363708		CCDS33361.1			1	
TSPAN12	0	LGGM	GRCh37	7	120428841	120428841	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	42	14	.	.	ENST00000222747.3:c.723C>T	p.Thr241=	p.T241=	ENST00000222747	NM_012338.3	241	acC/acT	0	1	1	UPI00000389F8	0		ENST00000222747		ENSG00000106025	21641		56			HGNC	p.T241T		TSPAN12		SNV			1				ENST00000415871	protein_coding			Prints_domain:PR00259,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF26,Transmembrane_helices:TMhelix		T		A		1331/2796				C9JQM0_HUMAN,C9JC05_HUMAN,C9J9U1_HUMAN,C9IZ82_HUMAN			YES	TSPAN12,synonymous_variant,p.=,ENST00000222747,NM_012338.3;TSPAN12,synonymous_variant,p.=,ENST00000415871,;TSPAN12,3_prime_UTR_variant,,ENST00000450414,;							LOW	723/918		TSN12_HUMAN			Transcript			.	ENSP00000222747		CCDS5777.1			1	
KCNQ5	0	LGGM	GRCh37	6	73787083	73787083	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	27	15	.	.	ENST00000342056.2:c.655G>T	p.Ala219Ser	p.A219S	ENST00000342056	NM_001160132.1	219	Gca/Tca	0	1		UPI0000167EE4	0	getma.org/pdb.php?prot=KCNQ5_HUMAN&from=162&to=346&var=A219S	ENST00000370398		ENSG00000185760	6299		42	1.04		HGNC	p.A219S		KCNQ5		SNV							ENST00000402622	protein_coding	getma.org/?cm=var&var=hg19,6,73787083,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF128,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324		A/S		T	low	764/6345		getma.org/?cm=msa&ty=f&p=KCNQ5_HUMAN&rb=162&re=346&var=A219S	deleterious(0)					KCNQ5,missense_variant,p.Ala219Ser,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Ala219Ser,ENST00000355194,;KCNQ5,missense_variant,p.Ala219Ser,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Ala219Ser,ENST00000402622,;KCNQ5,missense_variant,p.Ala219Ser,ENST00000355635,;KCNQ5,missense_variant,p.Ala219Ser,ENST00000403813,NM_001160130.1;KCNQ5,missense_variant,p.Ala219Ser,ENST00000414165,NM_001160134.1;KCNQ5,missense_variant,p.Ala219Ser,ENST00000370392,;							MODERATE	655/2799	A219S	KCNQ5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000359425		CCDS4976.1			1	
HMCN1	0	LGGM	GRCh37	1	185950195	185950195	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	47	15	.	.	ENST00000271588.4:c.2652G>T	p.Val884=	p.V884=	ENST00000271588	NM_031935.2	884	gtG/gtT	0	1	1	UPI0000458C0E	0		ENST00000271588		ENSG00000143341	19194		62			HGNC	p.V884V		HMCN1		SNV			1				ENST00000367492	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726		V		T		2881/18208							YES	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,downstream_gene_variant,,ENST00000493413,;							LOW	2652/16908		HMCN1_HUMAN			Transcript			.	ENSP00000271588		CCDS30956.1			1	
DHX38	0	LGGM	GRCh37	16	72141686	72141686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	31	15	.	.	ENST00000268482.3:c.2952C>A	p.Phe984Leu	p.F984L	ENST00000268482	NM_014003.3	984	ttC/ttA	0	1	1	UPI000002FBFE	0	getma.org/pdb.php?prot=PRP16_HUMAN&from=922&to=1012&var=F984L	ENST00000268482		ENSG00000140829	17211		46	3.33		HGNC	p.F984L		DHX38		SNV							ENST00000268482	protein_coding	getma.org/?cm=var&var=hg19,16,72141686,C,A&fts=all		hmmpanther:PTHR18934:SF91,hmmpanther:PTHR18934,Pfam_domain:PF04408,SMART_domains:SM00847,Superfamily_domains:SSF52540		F/L		A	medium	3461/4608		getma.org/?cm=msa&ty=f&p=PRP16_HUMAN&rb=922&re=1012&var=F984L	deleterious(0)	H3BV01_HUMAN,H3BQT9_HUMAN,B4DN69_HUMAN,B4DM30_HUMAN			YES	DHX38,missense_variant,p.Phe984Leu,ENST00000268482,NM_014003.3;DHX38,missense_variant,p.Phe296Leu,ENST00000536867,;DHX38,intron_variant,,ENST00000562774,;PMFBP1,downstream_gene_variant,,ENST00000537792,;DHX38,upstream_gene_variant,,ENST00000567142,;DHX38,upstream_gene_variant,,ENST00000563819,;DHX38,3_prime_UTR_variant,,ENST00000579387,;DHX38,upstream_gene_variant,,ENST00000567552,;DHX38,downstream_gene_variant,,ENST00000569935,;DHX38,downstream_gene_variant,,ENST00000566329,;DHX38,upstream_gene_variant,,ENST00000569952,;DHX38,upstream_gene_variant,,ENST00000564622,;							MODERATE	2952/3684	F984L	PRP16_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000268482		CCDS10907.1			1	
BLTP2	0	LGGM	GRCh37	17	26950941	26950941	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	89	15	.	.	ENST00000528896.2:c.4796C>T	p.Ser1599Leu	p.S1599L	ENST00000528896	NM_014680.3	1599	tCa/tTa	0	1	1	UPI00004B4130	0	NA	ENST00000528896		ENSG00000007202	28960		104	1.83		HGNC	p.S1599L		KIAA0100		SNV							ENST00000005905	protein_coding	getma.org/?cm=var&var=hg19,17,26950941,G,A&fts=all		hmmpanther:PTHR15678		S/L		A	low	4871/7407		getma.org/?cm=msa&ty=f&p=K0100_HUMAN&rb=1561&re=1702&var=S1599L	deleterious(0)	Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,missense_variant,p.Ser1599Leu,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Ser1456Leu,ENST00000544884,;KIAA0100,missense_variant,p.Ser1456Leu,ENST00000389003,;KIAA0100,upstream_gene_variant,,ENST00000579924,;KIAA0100,upstream_gene_variant,,ENST00000580395,;							MODERATE	4796/6708	S1599L	K0100_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000436773		CCDS32595.1			1	
ARPP21	0	LGGM	GRCh37	3	35770932	35770932	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	40	16	.	.	ENST00000458225.1:c.1261G>T	p.Gly421Cys	p.G421C	ENST00000458225		421	Ggc/Tgc	0	1		UPI0000192731	0	NA	ENST00000187397		ENSG00000172995	16968		56	1.905		HGNC	p.G401C		ARPP21		SNV							ENST00000444190	protein_coding	getma.org/?cm=var&var=hg19,3,35770932,G,T&fts=all		hmmpanther:PTHR15672:SF14,hmmpanther:PTHR15672		G/C		T	medium	1819/3433		getma.org/?cm=msa&ty=f&p=ARP21_HUMAN&rb=301&re=500&var=G455C	deleterious(0.01)	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN				ARPP21,missense_variant,p.Gly455Cys,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Gly401Cys,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Gly421Cys,ENST00000458225,;ARPP21,missense_variant,p.Gly421Cys,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Gly401Cys,ENST00000337271,;ARPP21,missense_variant,p.Gly228Cys,ENST00000425289,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476327,;ARPP21,missense_variant,p.Gly113Cys,ENST00000457165,;ARPP21,3_prime_UTR_variant,,ENST00000427590,;ARPP21,downstream_gene_variant,,ENST00000481854,;							MODERATE	1363/2439	G455C	ARP21_HUMAN			Transcript		benign(0.443)	.	ENSP00000187397		CCDS2661.1			1	
MKI67	0	LGGM	GRCh37	10	129913396	129913396	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	84	16	.	.	ENST00000368654.3:c.1276A>G	p.Ile426Val	p.I426V	ENST00000368654	NM_002417.4	426	Att/Gtt	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		100	0		HGNC	p.I426V	rs751241914	MKI67	0.000242	SNV							ENST00000368654	protein_coding	getma.org/?cm=var&var=hg19,10,129913396,T,C&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3		I/V		C	neutral	1652/12678		getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=101&re=492&var=I426V	tolerated(0.8)				YES	MKI67,missense_variant,p.Ile426Val,ENST00000368654,NM_002417.4;MKI67,intron_variant,,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000484853,;MKI67,downstream_gene_variant,,ENST00000478293,;							MODERATE	1276/9771	I426V	KI67_HUMAN			Transcript		benign(0.005)	.	ENSP00000357643	3.29E-05	CCDS7659.1			1	
UBR4	0	LGGM	GRCh37	1	19494530	19494530	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	75	16	.	.	ENST00000375254.3:c.3890A>T	p.Asp1297Val	p.D1297V	ENST00000375254	NM_020765.2	1297	gAt/gTt	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		91	1.525		HGNC	p.D1297V	rs762370823	UBR4		SNV				9.64E-05			ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19494530,T,A&fts=all		hmmpanther:PTHR21725,Superfamily_domains:SSF48371		D/V		A	low	3918/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=D1297V		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Asp1297Val,ENST00000375267,;UBR4,missense_variant,p.Asp1297Val,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Asp1297Val,ENST00000375217,;UBR4,missense_variant,p.Asp1297Val,ENST00000375226,;UBR4,missense_variant,p.Asp7Val,ENST00000417040,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;							MODERATE	3890/15552	D1297V	UBR4_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000364403	8.24E-06	CCDS189.1			1	
ATXN2	0	LGGM	GRCh37	12	111948220	111948220	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	223	17	.	.	ENST00000377617.3:c.2205A>G	p.Ala735=	p.A735=	ENST00000377617	NM_002973.3	735	gcA/gcG	0	1	1	UPI0000DBEEFC	0		ENST00000377617		ENSG00000204842	10555		240			HGNC	p.A735A		ATXN2		SNV			1				ENST00000377617	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11		A		C		2367/4702				D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN			YES	ATXN2,synonymous_variant,p.=,ENST00000377617,NM_002973.3;ATXN2,synonymous_variant,p.=,ENST00000550104,;ATXN2,synonymous_variant,p.=,ENST00000608853,;ATXN2,synonymous_variant,p.=,ENST00000389153,;ATXN2,synonymous_variant,p.=,ENST00000542287,;ATXN2,synonymous_variant,p.=,ENST00000535949,;ATXN2,intron_variant,,ENST00000492467,;ATXN2,intron_variant,,ENST00000550236,;ATXN2,downstream_gene_variant,,ENST00000481331,;ATXN2,synonymous_variant,p.=,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000546483,;ATXN2,downstream_gene_variant,,ENST00000392645,;							LOW	2205/3942		ATX2_HUMAN			Transcript			.	ENSP00000366843		CCDS31902.1			1	
OR5P2	0	LGGM	GRCh37	11	7817723	7817723	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	65	17	.	.	ENST00000329434.2:c.767T>C	p.Val256Ala	p.V256A	ENST00000329434	NM_153444.1	256	gTg/gCg	0	1	1	UPI00000015AC	0	NA	ENST00000329434		ENSG00000183303	14783		82	1.025		HGNC	p.V256A		OR5P2		SNV							ENST00000329434	protein_coding	getma.org/?cm=var&var=hg19,11,7817723,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF114,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		V/A		G	low	798/1069		getma.org/?cm=msa&ty=f&p=OR5P2_HUMAN&rb=135&re=279&var=V256A	deleterious(0.03)	Q6IFE0_HUMAN			YES	OR5P2,missense_variant,p.Val256Ala,ENST00000329434,NM_153444.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;							MODERATE	767/969	V256A	OR5P2_HUMAN			Transcript		benign(0.139)	.	ENSP00000331823		CCDS7782.1			1	
C4BPA	0	LGGM	GRCh37	1	207317968	207317968	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	46	17	.	.	ENST00000367070.3:c.1700T>C	p.Met567Thr	p.M567T	ENST00000367070	NM_000715.3	567	aTg/aCg	0	1	1	UPI0000126C28	0	NA	ENST00000367070		ENSG00000123838	1325		63	1.455		HGNC	p.M567T		C4BPA		SNV							ENST00000367070	protein_coding	getma.org/?cm=var&var=hg19,1,207317968,T,C&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341		M/T		C	low	1894/2243		getma.org/?cm=msa&ty=f&p=C4BPA_HUMAN&rb=539&re=597&var=M567T	deleterious(0.03)	Q5VVQ8_HUMAN,A6PVY5_HUMAN			YES	C4BPA,missense_variant,p.Met567Thr,ENST00000367070,NM_000715.3;							MODERATE	1700/1794	M567T	C4BPA_HUMAN			Transcript		possibly_damaging(0.48)	.	ENSP00000356037		CCDS1477.1			1	
PRSS58	0	LGGM	GRCh37	7	141952150	141952150	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	51	17	.	.	ENST00000552471.1:c.617A>G	p.Gln206Arg	p.Q206R	ENST00000552471		206	cAa/cGa	0	1		UPI000004C649	0	getma.org/pdb.php?prot=PRS58_HUMAN&from=21&to=234&var=Q206R	ENST00000547058		ENSG00000258223	39125		68	1.93		HGNC	p.Q206R		PRSS58		SNV							ENST00000552471	protein_coding	getma.org/?cm=var&var=hg19,7,141952150,T,C&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF46,SMART_domains:SM00020,Superfamily_domains:SSF50494		Q/R		C	medium	726/913		getma.org/?cm=msa&ty=f&p=PRS58_HUMAN&rb=21&re=234&var=Q206R	deleterious(0.01)					PRSS58,missense_variant,p.Gln206Arg,ENST00000552471,;PRSS58,missense_variant,p.Gln206Arg,ENST00000547058,NM_001001317.3;							MODERATE	617/726	Q206R	PRS58_HUMAN			Transcript		possibly_damaging(0.498)	.	ENSP00000447588		CCDS5871.1			1	
ZNF90	0	LGGM	GRCh37	19	20228593	20228593	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	67	17	.	.	ENST00000418063.2:c.230T>C	p.Met77Thr	p.M77T	ENST00000418063	NM_007138.1	77	aTg/aCg	0	1	1	UPI00002376E6	0	NA	ENST00000418063		ENSG00000213988	13165		84	1.505		HGNC	p.M77T	rs781921131	ZNF90		SNV							ENST00000418063	protein_coding	getma.org/?cm=var&var=hg19,19,20228593,T,C&fts=all		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF92		M/T		C	low	342/2310	4.73E-05	getma.org/?cm=msa&ty=f&p=ZNF90_HUMAN&rb=45&re=158&var=M77T	tolerated(0.17)				YES	ZNF90,missense_variant,p.Met77Thr,ENST00000418063,NM_007138.1;ZNF90,intron_variant,,ENST00000474284,;ZNF90,3_prime_UTR_variant,,ENST00000473524,;ZNF90,intron_variant,,ENST00000469078,;ZNF90,upstream_gene_variant,,ENST00000484032,;	0.000473						MODERATE	230/1806	M77T	ZNF90_HUMAN			Transcript		benign(0.003)	common_variant	ENSP00000410466	1.66E-05	CCDS46028.1			1	
IL17RE	0	LGGM	GRCh37	3	9944618	9944618	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	44	18	.	.	ENST00000295980.3:c.2T>C	p.Met1?	p.M1?	ENST00000295980	NM_153483.2	1	aTg/aCg	0	1		UPI000003E87E	0	NA	ENST00000383814		ENSG00000163701	18439		62	0		HGNC	p.M34T	COSM4120842,COSM4120844,COSM4120843	IL17RE		SNV						1,1,1	ENST00000421412	protein_coding	getma.org/?cm=var&var=hg19,3,9944618,T,C&fts=all		Cleavage_site_(Signalp):SignalP-noTM		M/T		C	NA	107/2704		http://getma.org/?cm=msa&ty=f&p=I17RE_HUMAN&rb=1&re=200&var=M1T	deleterious_low_confidence(0)					IL17RE,start_lost,p.Met1?,ENST00000454190,NM_001193380.1;IL17RE,start_lost,p.Met1?,ENST00000295980,NM_153483.2;IL17RE,start_lost,p.Met1?,ENST00000383814,NM_153480.1;IL17RE,start_lost,p.Met1?,ENST00000454992,;IL17RE,missense_variant,p.Met34Thr,ENST00000421412,;IL17RE,start_lost,p.Met1?,ENST00000383815,;IL17RE,start_lost,p.Met1?,ENST00000434065,NM_153481.1;IL17RE,start_lost,p.Met1?,ENST00000444427,;IL17RE,non_coding_transcript_exon_variant,,ENST00000489181,;IL17RE,non_coding_transcript_exon_variant,,ENST00000461534,;					1,1,1		HIGH	Feb-04	M1T	I17RE_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000373325		CCDS2589.1			1	
C4BPA	0	LGGM	GRCh37	1	207317944	207317944	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	47	18	.	.	ENST00000367070.3:c.1676T>G	p.Leu559Arg	p.L559R	ENST00000367070	NM_000715.3	559	cTc/cGc	0	1	1	UPI0000126C28	0	NA	ENST00000367070		ENSG00000123838	1325		65	2.395		HGNC	p.L559R		C4BPA		SNV							ENST00000367070	protein_coding	getma.org/?cm=var&var=hg19,1,207317944,T,G&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341		L/R		G	medium	1870/2243		getma.org/?cm=msa&ty=f&p=C4BPA_HUMAN&rb=539&re=597&var=L559R	deleterious(0)	Q5VVQ8_HUMAN,A6PVY5_HUMAN			YES	C4BPA,missense_variant,p.Leu559Arg,ENST00000367070,NM_000715.3;							MODERATE	1676/1794	L559R	C4BPA_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000356037		CCDS1477.1			1	
KCNA5	0	LGGM	GRCh37	12	5153719	5153719	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	31	18	.	.	ENST00000252321.3:c.406G>A	p.Gly136Ser	p.G136S	ENST00000252321	NM_002234.3	136	Ggc/Agc	0	1	1	UPI000013CD56	0	getma.org/pdb.php?prot=KCNA5_HUMAN&from=122&to=213&var=G136S	ENST00000252321		ENSG00000130037	6224		49	-1.71		HGNC	p.G136S	rs755599686,COSM3792698	KCNA5		SNV			1	0.000102		0,1	ENST00000252321	protein_coding	getma.org/?cm=var&var=hg19,12,5153719,G,A&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF02214,Prints_domain:PR01512,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF25,SMART_domains:SM00225,Superfamily_domains:SSF54695		G/S		A	neutral	635/2865		getma.org/?cm=msa&ty=f&p=KCNA5_HUMAN&rb=122&re=213&var=G136S	tolerated(0.2)				YES	KCNA5,missense_variant,p.Gly136Ser,ENST00000252321,NM_002234.3;					0,1		MODERATE	406/1842	G136S	KCNA5_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000252321	8.24E-06	CCDS8536.1			1	
AIM1L	0	LGGM	GRCh37	1	26648746	26648746	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	60	19	.	.	ENST00000527815.1:c.2184C>T	p.Ala728=	p.A728=	ENST00000527815	NM_001039775.3	728	gcC/gcT	0	1		UPI000006F870	0		ENST00000308182		ENSG00000176092	17295		79			HGNC	p.A728A	COSM1502592,COSM1502593	AIM1L		SNV						1,1	ENST00000527815	protein_coding			PROSITE_profiles:PS50231,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370		A		A		2101/2390								AIM1L,synonymous_variant,p.=,ENST00000527815,NM_001039775.3;AIM1L,synonymous_variant,p.=,ENST00000308182,;UBXN11,upstream_gene_variant,,ENST00000374222,;UBXN11,upstream_gene_variant,,ENST00000374217,NM_145345.2;CD52,downstream_gene_variant,,ENST00000374213,NM_001803.2;AIM1L,non_coding_transcript_exon_variant,,ENST00000374211,;AIM1L,non_coding_transcript_exon_variant,,ENST00000374208,;CD52,downstream_gene_variant,,ENST00000492808,;CD52,downstream_gene_variant,,ENST00000470468,;RP11-569G9.7,upstream_gene_variant,,ENST00000434718,;					1,1		LOW	1671/1851		AIM1L_HUMAN			Transcript			.	ENSP00000310435					1	
KIF14	0	LGGM	GRCh37	1	200558372	200558372	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	87	19	.	.	ENST00000367350.4:c.3087A>C	p.Leu1029Phe	p.L1029F	ENST00000367350	NM_014875.2	1029	ttA/ttC	0	1	1	UPI000012DDA3	0	NA	ENST00000367350		ENSG00000118193	19181		106	2.215		HGNC	p.L1029F		KIF14		SNV							ENST00000367350	protein_coding	getma.org/?cm=var&var=hg19,1,200558372,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF128		L/F		G	medium	3526/7274		getma.org/?cm=msa&ty=f&p=KIF14_HUMAN&rb=916&re=1646&var=L1029F	deleterious(0)				YES	KIF14,missense_variant,p.Leu1029Phe,ENST00000367350,NM_014875.2;							MODERATE	3087/4947	L1029F	KIF14_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000356319		CCDS30963.1			1	
GLUL	0	LGGM	GRCh37	1	182355466	182355466	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	115	19	.	.	ENST00000311223.5:c.400G>T	p.Glu134Ter	p.E134*	ENST00000311223	NM_002065.5	134	Gag/Tag	0	1	1	UPI000012B6E3	0	NA	ENST00000311223		ENSG00000135821	4341		134	0		HGNC	p.E134X		GLUL		SNV			1				ENST00000331872	protein_coding	getma.org/?cm=var&var=hg19,1,182355466,C,A&fts=all		Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF45,Superfamily_domains:SSF55931		E/*		A	NA	1297/4719		NA		B4DWM6_HUMAN,A8YXX4_HUMAN			YES	GLUL,stop_gained,p.Glu134Ter,ENST00000311223,NM_002065.5;GLUL,stop_gained,p.Glu134Ter,ENST00000331872,NM_001033044.2;GLUL,stop_gained,p.Glu134Ter,ENST00000417584,NM_001033056.2;GLUL,stop_gained,p.Glu134Ter,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,intron_variant,,ENST00000463851,;GLUL,intron_variant,,ENST00000489818,;GLUL,downstream_gene_variant,,ENST00000462444,;GLUL,upstream_gene_variant,,ENST00000461447,;							HIGH	400/1122	E134*	GLNA_HUMAN			Transcript			.	ENSP00000307900		CCDS1344.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43819451	43819451	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	61	19	.	.	ENST00000389420.3:c.4150A>G	p.Ile1384Val	p.I1384V	ENST00000389420	NM_025003.3	1384	Ata/Gta	0	1	1	UPI00004565F4	0	NA	ENST00000389420		ENSG00000173157	17178		80	-0.185		HGNC	p.I514V	rs538889464	ADAMTS20	0.000219	SNV							ENST00000549670	protein_coding	getma.org/?cm=var&var=hg19,12,43819451,T,C&fts=all	C:0	PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		I/V		C	neutral	4150/6076	1.77E-05	getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=1362&re=1415&var=I1384V	tolerated(1)		C:0	C:0	YES	ADAMTS20,missense_variant,p.Ile1384Val,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Ile1384Val,ENST00000553158,;ADAMTS20,missense_variant,p.Ile514Val,ENST00000549670,;ADAMTS20,missense_variant,p.Ile502Val,ENST00000395541,;		C:0.0002					MODERATE	4150/5733	I1384V	ATS20_HUMAN		C:0	Transcript		benign(0.008)	.	ENSP00000374071	3.30E-05	CCDS31778.2		C:0.001	1	
ENPP5	0	LGGM	GRCh37	6	46135499	46135499	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	129	20	.	.	ENST00000371383.2:c.501T>A	p.Val167=	p.V167=	ENST00000371383		167	gtT/gtA	0	1		UPI0000072511	0		ENST00000230565		ENSG00000112796	13717		149			HGNC	p.V167V		ENPP5		SNV							ENST00000371383	protein_coding			hmmpanther:PTHR10151:SF17,hmmpanther:PTHR10151,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649		V		T		700/2544								ENPP5,synonymous_variant,p.=,ENST00000371383,;ENPP5,synonymous_variant,p.=,ENST00000230565,NM_021572.4;ENPP5,upstream_gene_variant,,ENST00000492313,;							LOW	501/1434		ENPP5_HUMAN			Transcript			.	ENSP00000230565		CCDS4915.1			1	
OR2W3	0	LGGM	GRCh37	1	248059101	248059101	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	80	20	.	.	ENST00000537741.1:c.213C>A	p.Leu71=	p.L71=	ENST00000537741		71	ctC/ctA	0	1		UPI0000061EA8	0		ENST00000360358		ENSG00000238243	15021		100			HGNC	p.L71L		OR2W3		SNV							ENST00000537741	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L		A		213/945								OR2W3,synonymous_variant,p.=,ENST00000537741,;OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;							LOW	213/945		OR2W3_HUMAN			Transcript			.	ENSP00000353516		CCDS31099.1			1	
SYNC	0	LGGM	GRCh37	1	33161552	33161552	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	42	21	.	.	ENST00000409190.3:c.147A>T	p.Ser49=	p.S49=	ENST00000409190	NM_030786.2	49	tcA/tcT	0	1	1	UPI0001881B1E	0		ENST00000409190		ENSG00000162520	28897		63			HGNC	p.S49S		SYNC		SNV							ENST00000409190	protein_coding					S		A		606/3398				C9JTN4_HUMAN,C9JSS1_HUMAN			YES	SYNC,synonymous_variant,p.=,ENST00000373484,NM_001161708.1;SYNC,synonymous_variant,p.=,ENST00000409190,NM_030786.2;SYNC,5_prime_UTR_variant,,ENST00000417633,;SYNC,5_prime_UTR_variant,,ENST00000426909,;							LOW	147/1449		SYNCI_HUMAN			Transcript			.	ENSP00000386439		CCDS367.2			1	
MICALL2	0	LGGM	GRCh37	7	1481982	1481982	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	52	22	.	.	ENST00000297508.7:c.1557G>T	p.Pro519=	p.P519=	ENST00000297508	NM_182924.3	519	ccG/ccT	0	1	1	UPI00000742E0	0		ENST00000297508		ENSG00000164877	29672		74			HGNC	p.P519P		MICALL2		SNV							ENST00000297508	protein_coding			hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF96,Low_complexity_(Seg):seg		P		A		1733/3121							YES	MICALL2,synonymous_variant,p.=,ENST00000297508,NM_182924.3;MICALL2,synonymous_variant,p.=,ENST00000405088,;MICALL2,upstream_gene_variant,,ENST00000471899,;MICALL2,synonymous_variant,p.=,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,upstream_gene_variant,,ENST00000496184,;MICALL2,upstream_gene_variant,,ENST00000467394,;MICALL2,upstream_gene_variant,,ENST00000479007,;MICALL2,upstream_gene_variant,,ENST00000487156,;MICALL2,downstream_gene_variant,,ENST00000482839,;MICALL2,upstream_gene_variant,,ENST00000487187,;MICALL2,upstream_gene_variant,,ENST00000470807,;MICALL2,upstream_gene_variant,,ENST00000467783,;MICALL2,downstream_gene_variant,,ENST00000490608,;MICALL2,upstream_gene_variant,,ENST00000460198,;MICALL2,upstream_gene_variant,,ENST00000493998,;							LOW	1557/2715		MILK2_HUMAN			Transcript			.	ENSP00000297508		CCDS5324.1			1	
ESYT3	0	LGGM	GRCh37	3	138195128	138195128	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	52	22	.	.	ENST00000389567.4:c.2532T>C	p.Asn844=	p.N844=	ENST00000389567	NM_031913.3	844	aaT/aaC	0	1	1	UPI0000251E45	0		ENST00000389567		ENSG00000158220	24295		74			HGNC	p.N844N		ESYT3		SNV							ENST00000389567	protein_coding			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF27,SMART_domains:SM00239,Superfamily_domains:SSF49562		N		C		2718/4407							YES	ESYT3,synonymous_variant,p.=,ENST00000389567,NM_031913.3;ESYT3,non_coding_transcript_exon_variant,,ENST00000460133,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;ESYT3,downstream_gene_variant,,ENST00000490835,;ESYT3,downstream_gene_variant,,ENST00000460325,;							LOW	2532/2661		ESYT3_HUMAN			Transcript			.	ENSP00000374218		CCDS3101.2			1	
LRRFIP2	0	LGGM	GRCh37	3	37096658	37096658	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	51	23	.	.	ENST00000421307.1:c.1871-2A>G		p.X624_splice	ENST00000421307	NM_006309.2			0	1		UPI0000070DFD	0		ENST00000336686		ENSG00000093167	6703		74			HGNC	-		LRRFIP2		SNV			1				ENST00000421307	protein_coding							C		-/3208				C9JJC9_HUMAN,C9JC17_HUMAN,C9J321_HUMAN				LRRFIP2,splice_acceptor_variant,,ENST00000421307,NM_006309.2;LRRFIP2,splice_acceptor_variant,,ENST00000336686,;LRRFIP2,splice_acceptor_variant,,ENST00000354379,NM_017724.2;LRRFIP2,splice_acceptor_variant,,ENST00000421276,NM_001134369.1;LRRFIP2,splice_acceptor_variant,,ENST00000440230,;LRRFIP2,splice_acceptor_variant,,ENST00000396428,NM_001282691.1;MLH1,intron_variant,,ENST00000536378,;MLH1,downstream_gene_variant,,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,downstream_gene_variant,,ENST00000458205,NM_001258274.1;MLH1,downstream_gene_variant,,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,downstream_gene_variant,,ENST00000539477,NM_001167619.1;MLH1,downstream_gene_variant,,ENST00000455445,;MLH1,downstream_gene_variant,,ENST00000456676,NM_001258271.1;LRRFIP2,downstream_gene_variant,,ENST00000440742,;MLH1,downstream_gene_variant,,ENST00000413740,;MLH1,downstream_gene_variant,,ENST00000450420,;LRRFIP2,splice_acceptor_variant,,ENST00000496479,;LRRFIP2,splice_acceptor_variant,,ENST00000460646,;							HIGH	1871/2166		LRRF2_HUMAN			Transcript			.	ENSP00000338727		CCDS2664.1			1	
SWAP70	0	LGGM	GRCh37	11	9746238	9746238	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	44	23	.	.	ENST00000318950.6:c.448A>G	p.Met150Val	p.M150V	ENST00000318950	NM_015055.2	150	Atg/Gtg	0	1	1	UPI0000073652	0	NA	ENST00000318950		ENSG00000133789	17070		67	2.16		HGNC	p.M150V		SWAP70		SNV							ENST00000318950	protein_coding	getma.org/?cm=var&var=hg19,11,9746238,A,G&fts=all		hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF6,Superfamily_domains:SSF50729		M/V		G	medium	551/4882		getma.org/?cm=msa&ty=f&p=SWP70_HUMAN&rb=1&re=200&var=M150V	tolerated(0.08)	E9PJM7_HUMAN			YES	SWAP70,start_lost,p.Met1?,ENST00000534662,;SWAP70,missense_variant,p.Met150Val,ENST00000318950,NM_015055.2;SWAP70,missense_variant,p.Met92Val,ENST00000447399,;SWAP70,3_prime_UTR_variant,,ENST00000526358,;SWAP70,non_coding_transcript_exon_variant,,ENST00000524817,;SWAP70,non_coding_transcript_exon_variant,,ENST00000531814,;SWAP70,upstream_gene_variant,,ENST00000534562,;							MODERATE	448/1758	M150V	SWP70_HUMAN			Transcript		benign(0.2)	.	ENSP00000315630		CCDS31426.1			1	
SMIM2	0	LGGM	GRCh37	13	44734854	44734854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	96	24	.	.	ENST00000400419.1:c.138C>A	p.Ser46Arg	p.S46R	ENST00000400419	NM_024058.2	46	agC/agA	0	1	1	UPI0000072952	0		ENST00000400419		ENSG00000139656	28776		120			HGNC	p.S46R		SMIM2		SNV							ENST00000400419	protein_coding					S/R		T		327/822			tolerated(0.22)				YES	SMIM2,missense_variant,p.Ser46Arg,ENST00000400419,NM_024058.2;SMIM2-AS1,intron_variant,,ENST00000437867,;SMIM2-IT1,upstream_gene_variant,,ENST00000415082,;							MODERATE	138/258		SMIM2_HUMAN			Transcript		possibly_damaging(0.514)	.	ENSP00000383270		CCDS61320.1			1	
KMT2A	0	LGGM	GRCh37	11	118362581	118362581	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	42	24	.	.	ENST00000534358.1:c.4942A>C	p.Lys1648Gln	p.K1648Q	ENST00000534358	NM_005933.3	1648	Aag/Cag	0	1		UPI00001BE8DF	0	getma.org/pdb.php?prot=MLL1_HUMAN&from=1628&to=1827&var=K1645Q	ENST00000389506		ENSG00000118058	7132		66	0		HGNC	p.K1648Q		KMT2A		SNV			1				ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118362581,A,C&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,Gene3D:1.20.920.10,SMART_domains:SM00297,PIRSF_domain:PIRSF010354		K/Q		C	neutral	4933/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1628&re=1827&var=K1645Q		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Lys1648Gln,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Lys1607Gln,ENST00000354520,;KMT2A,missense_variant,p.Lys1645Gln,ENST00000389506,;KMT2A,missense_variant,p.Lys357Gln,ENST00000392873,;							MODERATE	4933/11910	K1645Q	KMT2A_HUMAN			Transcript		benign(0.054)	.	ENSP00000374157		CCDS31686.1			1	
MOS	0	LGGM	GRCh37	8	57026422	57026422	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	28	24	.	.	ENST00000311923.1:c.120T>C	p.Leu40=	p.L40=	ENST00000311923	NM_005372.1	40	ctT/ctC	0	1	1	UPI000012DF0C	0		ENST00000311923		ENSG00000172680	7199		52			HGNC	p.L40L		MOS		SNV							ENST00000311923	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23257		L		G		120/1041							YES	MOS,synonymous_variant,p.=,ENST00000311923,NM_005372.1;							LOW	120/1041		MOS_HUMAN			Transcript			.	ENSP00000310722		CCDS6164.1			1	
PDK1	0	LGGM	GRCh37	2	173429378	173429378	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	45	24	.	.	ENST00000282077.3:c.558G>A	p.Met186Ile	p.M186I	ENST00000282077		186	atG/atA	0	1	1	UPI0000001C7A	0	getma.org/pdb.php?prot=PDK1_HUMAN&from=55&to=221&var=M186I	ENST00000282077		ENSG00000152256	8809		69	2.245		HGNC	p.M110I		PDK1		SNV							ENST00000439519	protein_coding	getma.org/?cm=var&var=hg19,2,173429378,G,A&fts=all		hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF14,Gene3D:1.20.140.20,Pfam_domain:PF10436,Superfamily_domains:SSF69012		M/I		A	medium	740/14193		getma.org/?cm=msa&ty=f&p=PDK1_HUMAN&rb=55&re=221&var=M186I	tolerated(0.09)	C9JKT3_HUMAN,Q53R49_HUMAN,B7Z7N6_HUMAN,B7Z207_HUMAN			YES	PDK1,missense_variant,p.Met186Ile,ENST00000282077,;PDK1,missense_variant,p.Met186Ile,ENST00000410055,NM_002610.4;PDK1,missense_variant,p.Met110Ile,ENST00000543905,;PDK1,missense_variant,p.Met206Ile,ENST00000392571,NM_001278549.1;PDK1,missense_variant,p.Met31Ile,ENST00000544863,;PDK1,missense_variant,p.Met110Ile,ENST00000443353,;PDK1,missense_variant,p.Met104Ile,ENST00000416991,;PDK1,missense_variant,p.Met110Ile,ENST00000439519,;PDK1,3_prime_UTR_variant,,ENST00000436490,;PDK1,intron_variant,,ENST00000431718,;							MODERATE	558/1311	M186I	PDK1_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000282077		CCDS2250.1			1	
DCLRE1A	0	LGGM	GRCh37	10	115609066	115609066	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	68	27	.	.	ENST00000361384.2:c.1798A>T	p.Lys600Ter	p.K600*	ENST00000361384	NM_014881.4	600	Aag/Tag	0	1	1	UPI000006EFFE	0	NA	ENST00000361384		ENSG00000198924	17660		95	0		HGNC	p.K600X		DCLRE1A		SNV							ENST00000369305	protein_coding	getma.org/?cm=var&var=hg19,10,115609066,T,A&fts=all		hmmpanther:PTHR23240,hmmpanther:PTHR23240:SF6		K/*		A	NA	2716/4464		NA					YES	DCLRE1A,stop_gained,p.Lys600Ter,ENST00000361384,NM_014881.4;DCLRE1A,stop_gained,p.Lys600Ter,ENST00000369305,NM_001271816.1;DCLRE1A,downstream_gene_variant,,ENST00000476112,;							HIGH	1798/3123	K600*	DCR1A_HUMAN			Transcript			.	ENSP00000355185		CCDS7584.1			1	
LPHN3	0	LGGM	GRCh37	4	62936065	62936065	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	53	27	.	.	ENST00000514591.1:c.3849G>T	p.Arg1283Ser	p.R1283S	ENST00000514591		1283	agG/agT	0	1	1	UPI00016278EF	0	NA	ENST00000514591		ENSG00000150471	20974		80	1.5		HGNC	p.R1342S		LPHN3		SNV							ENST00000507625	protein_coding	getma.org/?cm=var&var=hg19,4,62936065,G,T&fts=all		Pfam_domain:PF02354		R/S		T	low	4178/6297		getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=1181&re=1447&var=R1261S	tolerated(0.24)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Arg1283Ser,ENST00000514591,;LPHN3,missense_variant,p.Arg1283Ser,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Arg1394Ser,ENST00000506720,;LPHN3,missense_variant,p.Arg1385Ser,ENST00000506746,;LPHN3,missense_variant,p.Arg1342Ser,ENST00000507625,;LPHN3,missense_variant,p.Arg1326Ser,ENST00000508946,;LPHN3,missense_variant,p.Arg1317Ser,ENST00000514996,;LPHN3,missense_variant,p.Arg732Ser,ENST00000502815,;LPHN3,3_prime_UTR_variant,,ENST00000512091,;LPHN3,3_prime_UTR_variant,,ENST00000509896,;LPHN3,3_prime_UTR_variant,,ENST00000511324,;LPHN3,3_prime_UTR_variant,,ENST00000508693,;LPHN3,3_prime_UTR_variant,,ENST00000507164,;LPHN3,3_prime_UTR_variant,,ENST00000506700,;LPHN3,3_prime_UTR_variant,,ENST00000504896,;LPHN3,3_prime_UTR_variant,,ENST00000514157,;RP11-84A1.3,downstream_gene_variant,,ENST00000506704,;RP11-84A1.3,downstream_gene_variant,,ENST00000504135,;RP11-84A1.3,downstream_gene_variant,,ENST00000509461,;							MODERATE	3849/4410	R1261S				Transcript		benign(0.088)	.	ENSP00000422533		CCDS54768.1			1	
C5	0	LGGM	GRCh37	9	123783917	123783917	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	47	28	.	.	ENST00000223642.1:c.1172A>T	p.Asn391Ile	p.N391I	ENST00000223642	NM_001735.2	391	aAt/aTt	0	1	1	UPI000013C838	0	getma.org/pdb.php?prot=CO5_HUMAN&from=220&to=419&var=N391I	ENST00000223642		ENSG00000106804	1331		75	1.245		HGNC	p.N391I		C5		SNV			1				ENST00000223642	protein_coding	getma.org/?cm=var&var=hg19,9,123783917,T,A&fts=all		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83		N/I		A	low	1202/5462		getma.org/?cm=msa&ty=f&p=CO5_HUMAN&rb=220&re=419&var=N391I	tolerated(0.07)				YES	C5,missense_variant,p.Asn391Ile,ENST00000223642,NM_001735.2;C5,downstream_gene_variant,,ENST00000460578,;							MODERATE	1172/5031	N391I	CO5_HUMAN			Transcript		benign(0.045)	.	ENSP00000223642		CCDS6826.1			1	
NEB	0	LGGM	GRCh37	2	152382582	152382582	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	161	30	.	.	ENST00000397345.3:c.22051A>T	p.Asn7351Tyr	p.N7351Y	ENST00000397345	NM_001164508.1	7351	Aac/Tac	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		191	1.1		HGNC	p.N5650Y		NEB		SNV			1				ENST00000409198	protein_coding	getma.org/?cm=var&var=hg19,2,152382582,T,A&fts=all		Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		N/Y		A	low	17096/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=5613&re=5681&var=N5650Y		J3QK84_HUMAN				NEB,missense_variant,p.Asn7351Tyr,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Asn7351Tyr,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Asn7351Tyr,ENST00000604864,;NEB,missense_variant,p.Asn7351Tyr,ENST00000603639,;NEB,missense_variant,p.Asn5650Tyr,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Asn5650Tyr,ENST00000172853,;NEB,missense_variant,p.Asn2081Tyr,ENST00000413693,;NEB,upstream_gene_variant,,ENST00000434685,;NEB,downstream_gene_variant,,ENST00000480784,;							MODERATE	16948/20010	N5650Y				Transcript		probably_damaging(0.999)	.	ENSP00000172853					1	
SPAG17	0	LGGM	GRCh37	1	118516066	118516066	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	105	34	.	.	ENST00000336338.5:c.6123G>A	p.Lys2041=	p.K2041=	ENST00000336338	NM_206996.2	2041	aaG/aaA	0	1	1	UPI00001601FD	0		ENST00000336338		ENSG00000155761	26620		139			HGNC	p.K521K		SPAG17		SNV							ENST00000437255	protein_coding			hmmpanther:PTHR21963		K		T		6189/6924				A7LBF9_HUMAN			YES	SPAG17,synonymous_variant,p.=,ENST00000336338,NM_206996.2;SPAG17,synonymous_variant,p.=,ENST00000437255,;SPAG17,non_coding_transcript_exon_variant,,ENST00000492438,;SPAG17,upstream_gene_variant,,ENST00000469128,;SPAG17,downstream_gene_variant,,ENST00000483383,;							LOW	6123/6672		SPG17_HUMAN			Transcript			.	ENSP00000337804		CCDS899.1			1	
TTN	0	LGGM	GRCh37	2	179535018	179535018	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060203	H060203N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	74	37	.	.	ENST00000589042.1:c.35313G>T	p.Pro11771=	p.P11771=	ENST00000589042	NM_001267550.1	11771	ccG/ccT	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		111			HGNC	p.P11771P		TTN		SNV			1				ENST00000589042	protein_coding			Pfam_domain:PF02818,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg		P		A		34416/104301				C9JQJ2_HUMAN				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.=,ENST00000448510,;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,upstream_gene_variant,,ENST00000425332,;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,;							LOW	34191/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
DZANK1	0	LGGM	GRCh37	20	18374413	18374413	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060203	H060203N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	128	38	.	.	ENST00000262547.5:c.1751T>C	p.Ile584Thr	p.I584T	ENST00000262547	NM_001099407.1	584	aTc/aCc	0	1	1	UPI0000E064B4	0	NA	ENST00000262547		ENSG00000089091	15858		166	0.805		HGNC	p.I470T	COSM1024870,COSM1024871	DZANK1		SNV						1,1	ENST00000357236	protein_coding	getma.org/?cm=var&var=hg19,20,18374413,A,G&fts=all		hmmpanther:PTHR16058,hmmpanther:PTHR16058:SF4		I/T		G	low	1960/3498		getma.org/?cm=msa&ty=f&p=DZAN1_HUMAN&rb=401&re=600&var=I584T	tolerated(0.7)				YES	DZANK1,missense_variant,p.Ile470Thr,ENST00000357236,;DZANK1,missense_variant,p.Ile584Thr,ENST00000262547,NM_001099407.1;DZANK1,missense_variant,p.Ile584Thr,ENST00000358866,;DZANK1,splice_region_variant,,ENST00000329494,;DZANK1,non_coding_transcript_exon_variant,,ENST00000487128,;DZANK1,non_coding_transcript_exon_variant,,ENST00000476058,;DZANK1,non_coding_transcript_exon_variant,,ENST00000480488,;DZANK1,downstream_gene_variant,,ENST00000460891,;DZANK1,3_prime_UTR_variant,,ENST00000608192,;DZANK1,3_prime_UTR_variant,,ENST00000377630,;DZANK1,3_prime_UTR_variant,,ENST00000609267,;					1,1		MODERATE	1751/2259	I584T	DZAN1_HUMAN			Transcript		benign(0.014)	.	ENSP00000262547		CCDS46582.1			1	
ERC2	0	LGGM	GRCh37	3	56468978	56468978	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060203	H060203N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	113	47	.	.	ENST00000288221.6:c.58C>T	p.Arg20Cys	p.R20C	ENST00000288221	NM_015576.1	20	Cgt/Tgt	0	1	1	UPI00001C1572	0	NA	ENST00000288221		ENSG00000187672	31922		160	1.65		HGNC	p.R20C		ERC2		SNV							ENST00000288221	protein_coding	getma.org/?cm=var&var=hg19,3,56468978,G,A&fts=all		hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Low_complexity_(Seg):seg		R/C		A	low	314/6138		getma.org/?cm=msa&ty=f&p=ERC2_HUMAN&rb=1&re=149&var=R20C	deleterious(0)				YES	ERC2,missense_variant,p.Arg20Cys,ENST00000288221,NM_015576.1;ERC2,non_coding_transcript_exon_variant,,ENST00000472917,;ERC2,upstream_gene_variant,,ENST00000477381,;ERC2,missense_variant,p.Arg20Cys,ENST00000460849,;							MODERATE	58/2874	R20C	ERC2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000288221		CCDS46851.1			1	
ZNF792	0	LGGM	GRCh37	19	35450282	35450282	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060203	H060203N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060203N.bam, H060203T.bam	Illumina HiSeq	179	49	.	.	ENST00000404801.1:c.477A>G	p.Pro159=	p.P159=	ENST00000404801	NM_175872.4	159	ccA/ccG	0	1	1	UPI0000202090	0		ENST00000404801		ENSG00000180884	24751		228			HGNC	p.P159P		ZNF792		SNV							ENST00000404801	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		P		C		864/3888				S4R3B8_HUMAN			YES	ZNF792,synonymous_variant,p.=,ENST00000404801,NM_175872.4;ZNF792,synonymous_variant,p.=,ENST00000605484,;							LOW	477/1899		ZN792_HUMAN			Transcript			.	ENSP00000385099		CCDS12440.2			1	
KIAA1024	0	LGGM	GRCh37	15	79760613	79760613	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	7	2	.	.	ENST00000305428.3:c.2638A>T	p.Lys880Ter	p.K880*	ENST00000305428	NM_015206.2	880	Aaa/Taa	0	1	1	UPI00001B2F56	0	NA	ENST00000305428		ENSG00000169330	29172		9	0		HGNC	p.K880X		KIAA1024		SNV							ENST00000305428	protein_coding	getma.org/?cm=var&var=hg19,15,79760613,A,T&fts=all		hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2,Pfam_domain:PF06789		K/*		T	NA	2713/6732		NA					YES	KIAA1024,stop_gained,p.Lys880Ter,ENST00000305428,NM_015206.2;KIAA1024,3_prime_UTR_variant,,ENST00000559272,;							HIGH	2638/2751	K880*	K1024_HUMAN			Transcript			.	ENSP00000307461		CCDS32306.1			1	
PLXNC1	0	LGGM	GRCh37	12	94654491	94654491	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	40	3	.	.	ENST00000258526.4:c.3325C>A	p.Leu1109Met	p.L1109M	ENST00000258526	NM_005761.2	1109	Ctg/Atg	0	1	1	UPI0000038AF4	0	getma.org/pdb.php?prot=PLXC1_HUMAN&from=1011&to=1535&var=L1109M	ENST00000258526		ENSG00000136040	9106		43	2.955		HGNC	p.L1109M		PLXNC1		SNV							ENST00000258526	protein_coding	getma.org/?cm=var&var=hg19,12,94654491,C,A&fts=all		hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350		L/M		A	medium	3574/7346		getma.org/?cm=msa&ty=f&p=PLXC1_HUMAN&rb=1011&re=1535&var=L1109M	deleterious(0)	F8VUW4_HUMAN,F5H3A2_HUMAN			YES	PLXNC1,missense_variant,p.Leu1109Met,ENST00000258526,NM_005761.2;PLXNC1,missense_variant,p.Leu156Met,ENST00000547057,;PLXNC1,upstream_gene_variant,,ENST00000545312,;PLXNC1,downstream_gene_variant,,ENST00000550080,;PLXNC1,non_coding_transcript_exon_variant,,ENST00000551495,;PLXNC1,missense_variant,p.Leu150Met,ENST00000549217,;PLXNC1,downstream_gene_variant,,ENST00000549810,;PLXNC1,upstream_gene_variant,,ENST00000549187,;							MODERATE	3325/4707	L1109M	PLXC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258526		CCDS9049.1			1	
MACROD2	0	LGGM	GRCh37	20	15913928	15913928	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	32	3	.	.	ENST00000217246.4:c.783C>T	p.Asn261=	p.N261=	ENST00000217246	NM_080676.5	261	aaC/aaT	0	1	1	UPI00005B2E12	0		ENST00000217246		ENSG00000172264	16126		35			HGNC	p.N261N	rs373690455	MACROD2	0.00128	SNV	T:0			0.000385			ENST00000217246	protein_coding		T:0	hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF54		N	T:0.0001	T		1178/4994	7.51E-05				T:0	T:0	YES	MACROD2,synonymous_variant,p.=,ENST00000217246,NM_080676.5;MACROD2,synonymous_variant,p.=,ENST00000402914,NM_001033087.1;MACROD2,synonymous_variant,p.=,ENST00000310348,;MACROD2,synonymous_variant,p.=,ENST00000378058,;MACROD2,non_coding_transcript_exon_variant,,ENST00000486914,;		T:0.0002					LOW	783/1278		MACD2_HUMAN		T:0	Transcript			common_variant	ENSP00000217246	0.000247	CCDS13120.2		T:0.001	1	
LRRIQ3	0	LGGM	GRCh37	1	74648334	74648334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	33	3	.	.	ENST00000354431.4:c.461T>A	p.Leu154Gln	p.L154Q	ENST00000354431	NM_001105659.1	154	cTg/cAg	0	1	1	UPI000155D493	0	NA	ENST00000354431		ENSG00000162620	28318		36	1.955		HGNC	p.L154Q		LRRIQ3		SNV							ENST00000354431	protein_coding	getma.org/?cm=var&var=hg19,1,74648334,A,T&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF206,Superfamily_domains:SSF52058		L/Q		T	medium	653/2849		getma.org/?cm=msa&ty=f&p=LRIQ3_HUMAN&rb=132&re=179&var=L154Q	deleterious(0)				YES	LRRIQ3,missense_variant,p.Leu154Gln,ENST00000354431,NM_001105659.1;LRRIQ3,missense_variant,p.Leu154Gln,ENST00000395089,;LRRIQ3,missense_variant,p.Leu154Gln,ENST00000370911,;LRRIQ3,intron_variant,,ENST00000370909,;LRRIQ3,intron_variant,,ENST00000444984,;LRRIQ3,upstream_gene_variant,,ENST00000495179,;LRRIQ3,missense_variant,p.Leu154Gln,ENST00000415760,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000463724,;							MODERATE	461/1875	L154Q	LRIQ3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000346414		CCDS41350.1			1	
FBXO40	0	LGGM	GRCh37	3	121341818	121341818	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	36	3	.	.	ENST00000338040.4:c.1542C>A	p.Ala514=	p.A514=	ENST00000338040	NM_016298.3	514	gcC/gcA	0	1	1	UPI000020A046	0		ENST00000338040		ENSG00000163833	29816		39			HGNC	p.A514A		FBXO40		SNV							ENST00000338040	protein_coding			hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1		A		A		1956/5926							YES	FBXO40,synonymous_variant,p.=,ENST00000338040,NM_016298.3;							LOW	1542/2130		FBX40_HUMAN			Transcript			.	ENSP00000337510		CCDS33835.1			1	
DECR2	0	LGGM	GRCh37	16	455001	455001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	47	3	.	.	ENST00000219481.5:c.126C>A	p.Phe42Leu	p.F42L	ENST00000219481	NM_020664.3	42	ttC/ttA	0	1	1	UPI000003BBDC	0	getma.org/pdb.php?prot=DECR2_HUMAN&from=35&to=272&var=F42L	ENST00000219481		ENSG00000242612	2754		50	-0.27		HGNC	p.F42L		DECR2		SNV							ENST00000439661	protein_coding	getma.org/?cm=var&var=hg19,16,455001,C,A&fts=all		hmmpanther:PTHR24315:SF0,hmmpanther:PTHR24315,Gene3D:3.40.50.720,Pfam_domain:PF13561,SMART_domains:SM00822,Superfamily_domains:SSF51735,Prints_domain:PR00081		F/L		A	neutral	264/1615		getma.org/?cm=msa&ty=f&p=DECR2_HUMAN&rb=35&re=272&var=F42L	tolerated(0.28)	Q9H3W9_HUMAN			YES	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.Ser220Tyr,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,;							MODERATE	126/879	F42L	DECR2_HUMAN			Transcript		benign(0.119)	.	ENSP00000219481		CCDS10409.1			1	
TMEM215	0	LGGM	GRCh37	9	32784729	32784729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	25	3	.	.	ENST00000342743.5:c.548C>A	p.Ala183Glu	p.A183E	ENST00000342743	NM_212558.2	183	gCa/gAa	0	1	1	UPI0000049371	0	NA	ENST00000342743		ENSG00000188133	33816		28	0		HGNC	p.A183E		TMEM215		SNV							ENST00000342743	protein_coding	getma.org/?cm=var&var=hg19,9,32784729,C,A&fts=all		hmmpanther:PTHR31922		A/E		A	neutral	913/3581		getma.org/?cm=msa&ty=f&p=TM215_HUMAN&rb=1&re=233&var=A183E	tolerated(0.08)				YES	TMEM215,missense_variant,p.Ala183Glu,ENST00000342743,NM_212558.2;							MODERATE	548/708	A183E	TM215_HUMAN			Transcript		benign(0.092)	.	ENSP00000345468		CCDS6530.1			1	
CCZ1	0	LGGM	GRCh37	7	5939950	5939950	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	14	3	.	.	ENST00000325974.6:c.156G>T	p.Glu52Asp	p.E52D	ENST00000325974	NM_015622.5	52	gaG/gaT	0	1	1	UPI000006CEFF	0	NA	ENST00000325974		ENSG00000122674	21691		17	-0.075		HGNC	p.E52D		CCZ1		SNV							ENST00000325974	protein_coding	getma.org/?cm=var&var=hg19,7,5939950,G,T&fts=all		Pfam_domain:PF08217,hmmpanther:PTHR13056		E/D		T	neutral	222/1802		getma.org/?cm=msa&ty=f&p=CCZ1B_HUMAN&rb=1&re=200&var=E52D	tolerated(0.34)	Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1,missense_variant,p.Glu52Asp,ENST00000325974,NM_015622.5;CCZ1,5_prime_UTR_variant,,ENST00000537980,;CCZ1,non_coding_transcript_exon_variant,,ENST00000478672,;CCZ1,non_coding_transcript_exon_variant,,ENST00000461592,;CCZ1,upstream_gene_variant,,ENST00000483394,;							MODERATE	156/1449	E52D	CCZ1_HUMAN			Transcript		benign(0.008)	.	ENSP00000325681		CCDS34597.1			1	
MICAL3	0	LGGM	GRCh37	22	18300459	18300459	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	11	4	.	.	ENST00000441493.2:c.4968G>T	p.Arg1656Ser	p.R1656S	ENST00000441493	NM_015241.2	1656	agG/agT	0	1	1	UPI0001823FDE	0	NA	ENST00000441493		ENSG00000243156	24694		15	0.55		HGNC	p.R1656S		MICAL3		SNV							ENST00000441493	protein_coding	getma.org/?cm=var&var=hg19,22,18300459,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218		R/S		A	neutral	5321/9445		getma.org/?cm=msa&ty=f&p=MICA3_HUMAN&rb=1650&re=1847&var=R1656S		C9J922_HUMAN,A8K0E1_HUMAN			YES	MICAL3,missense_variant,p.Arg1656Ser,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,;							MODERATE	4968/6009	R1656S	MICA3_HUMAN			Transcript		benign(0.08)	.	ENSP00000416015		CCDS46659.1			1	
DIXDC1	0	LGGM	GRCh37	11	111889712	111889712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	50	4	.	.	ENST00000440460.2:c.2001G>T	p.Trp667Cys	p.W667C	ENST00000440460	NM_001037954.3	667	tgG/tgT	0	1	1	UPI00015E0094	0		ENST00000440460		ENSG00000150764	23695		54			HGNC	p.W667C		DIXDC1		SNV							ENST00000440460	protein_coding			PROSITE_profiles:PS50841,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF18,Pfam_domain:PF00778,SMART_domains:SM00021,Superfamily_domains:SSF54236		W/C		T		2298/5891			deleterious(0)	J3KQC9_HUMAN			YES	DIXDC1,missense_variant,p.Trp667Cys,ENST00000440460,NM_001037954.3;DIXDC1,missense_variant,p.Trp456Cys,ENST00000315253,NM_033425.4;RP11-708L7.6,downstream_gene_variant,,ENST00000530733,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000389821,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000530411,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000524609,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000526500,;DIXDC1,non_coding_transcript_exon_variant,,ENST00000526418,;							MODERATE	2001/2049					Transcript		probably_damaging(1)	.	ENSP00000394352					1	
POTEE	0	LGGM	GRCh37	2	132021721	132021721	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	95	4	.	.	ENST00000356920.5:c.2693A>G	p.Tyr898Cys	p.Y898C	ENST00000356920	NM_001083538.1	898	tAt/tGt	0	1	1	UPI0000F58EC8	0	getma.org/pdb.php?prot=POTEE_HUMAN&from=702&to=1075&var=Y898C	ENST00000356920		ENSG00000188219	33895		99	4.15		HGNC	p.Y898C	COSM1129570	POTEE		SNV						1	ENST00000356920	protein_coding	getma.org/?cm=var&var=hg19,2,132021721,A,G&fts=all		hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:3.90.640.10,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067		Y/C		G	high	2787/4031		getma.org/?cm=msa&ty=f&p=POTEE_HUMAN&rb=702&re=1075&var=Y898C	deleterious_low_confidence(0)				YES	POTEE,missense_variant,p.Tyr898Cys,ENST00000356920,NM_001083538.1;POTEE,3_prime_UTR_variant,,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;					1		MODERATE	2693/3228	Y898C	POTEE_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000439189		CCDS46414.1			1	
PTCH1	0	LGGM	GRCh37	9	98242711	98242711	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	17	4	.	.	ENST00000331920.6:c.906A>G	p.Pro302=	p.P302=	ENST00000331920	NM_000264.3	302	ccA/ccG	0	1	1	UPI00001AFF9C	0		ENST00000331920		ENSG00000185920	9585		21			HGNC	p.P19P		PTCH1		SNV			1				ENST00000375271	protein_coding			TIGRFAM_domain:TIGR00918,hmmpanther:PTHR10796:SF61,hmmpanther:PTHR10796		P		C		1206/8057				Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN			YES	PTCH1,synonymous_variant,p.=,ENST00000430669,;PTCH1,synonymous_variant,p.=,ENST00000331920,NM_000264.3;PTCH1,synonymous_variant,p.=,ENST00000437951,NM_001083603.1,NM_001083602.1;PTCH1,synonymous_variant,p.=,ENST00000418258,NM_001083607.1;PTCH1,synonymous_variant,p.=,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,synonymous_variant,p.=,ENST00000429896,NM_001083606.1;PTCH1,synonymous_variant,p.=,ENST00000375274,;PTCH1,synonymous_variant,p.=,ENST00000375271,;PTCH1,synonymous_variant,p.=,ENST00000553011,;PTCH1,synonymous_variant,p.=,ENST00000547672,;PTCH1,synonymous_variant,p.=,ENST00000546820,;PTCH1,synonymous_variant,p.=,ENST00000551845,;PTCH1,synonymous_variant,p.=,ENST00000548420,;PTCH1,downstream_gene_variant,,ENST00000468211,;PTCH1,downstream_gene_variant,,ENST00000551630,;PTCH1,downstream_gene_variant,,ENST00000548379,;PTCH1,downstream_gene_variant,,ENST00000553256,;PTCH1,downstream_gene_variant,,ENST00000548945,;PTCH1,synonymous_variant,p.=,ENST00000375290,;PTCH1,non_coding_transcript_exon_variant,,ENST00000488809,;PTCH1,downstream_gene_variant,,ENST00000550136,;PTCH1,downstream_gene_variant,,ENST00000550914,;PTCH1,downstream_gene_variant,,ENST00000551623,;							LOW	906/4344		PTC1_HUMAN			Transcript			.	ENSP00000332353		CCDS6714.1			1	
KIRREL3	0	LGGM	GRCh37	11	126326325	126326325	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	14	4	.	.	ENST00000525144.2:c.767T>C	p.Val256Ala	p.V256A	ENST00000525144	NM_032531.3	256	gTg/gCg	0	1	1	UPI00000740A0	0	NA	ENST00000525144		ENSG00000149571	23204		18	1.43		HGNC	p.V256A		KIRREL3		SNV			1				ENST00000529097	protein_coding	getma.org/?cm=var&var=hg19,11,126326325,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,Superfamily_domains:SSF48726		V/A		G	low	1017/3808		getma.org/?cm=msa&ty=f&p=KIRR3_HUMAN&rb=249&re=331&var=V256A	tolerated(0.24)	B4DT91_HUMAN			YES	KIRREL3,missense_variant,p.Val256Ala,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Val256Ala,ENST00000529097,;KIRREL3,missense_variant,p.Val256Ala,ENST00000525704,NM_001161707.1;							MODERATE	767/2337	V256A	KIRR3_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000435466		CCDS53723.1			1	
KAZN	0	LGGM	GRCh37	1	15361362	15361362	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	14	4	.	.	ENST00000376030.2:c.536A>G	p.Asn179Ser	p.N179S	ENST00000376030	NM_201628.2	179	aAc/aGc	0	1	1	UPI0000E1E68A	0	NA	ENST00000376030		ENSG00000189337	29173		18	2.34		HGNC	p.N179S		KAZN		SNV							ENST00000503743	protein_coding	getma.org/?cm=var&var=hg19,1,15361362,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12776		N/S		G	medium	830/6030		getma.org/?cm=msa&ty=f&p=KAZRN_HUMAN&rb=1&re=244&var=N179S	deleterious(0.03)	B4DEV2_HUMAN,B0QYQ6_HUMAN			YES	KAZN,missense_variant,p.Asn179Ser,ENST00000376030,NM_201628.2;KAZN,missense_variant,p.Asn179Ser,ENST00000422387,NM_015209.2;KAZN,missense_variant,p.Asn173Ser,ENST00000361144,NM_001018000.3;KAZN,missense_variant,p.Asn85Ser,ENST00000400798,NM_001018001.2;KAZN,missense_variant,p.Asn179Ser,ENST00000503743,;KAZN,missense_variant,p.Asn85Ser,ENST00000400797,NM_001017999.2;KAZN,missense_variant,p.Asn85Ser,ENST00000376028,;KAZN,non_coding_transcript_exon_variant,,ENST00000491547,;							MODERATE	536/2328	N179S	KAZRN_HUMAN			Transcript		benign(0.347)	.	ENSP00000365198		CCDS152.2			1	
GRM5	0	LGGM	GRCh37	11	88241838	88241838	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	6	4	.	.	ENST00000418177.2:c.3561G>T	p.Ser1187=	p.S1187=	ENST00000418177		1187	tcG/tcT	0	1		UPI000012F081	0		ENST00000305447		ENSG00000168959	4597		10			HGNC	p.S1187S		GRM5		SNV							ENST00000418177	protein_coding			Pfam_domain:PF10606		S		A		3711/4571								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,;GRM5-AS1,non_coding_transcript_exon_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;							LOW	3561/3639		GRM5_HUMAN			Transcript			.	ENSP00000306138		CCDS44694.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	57	6	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	63			HGNC	p.P55P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000399808	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
MADCAM1	0	LGGM	GRCh37	19	501738	501739	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	novel	by Submitter	H060228	H060228N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	10	5	.	.	ENST00000215637.3:c.784_785insAGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC	p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer	p.S261_P262insQESPDTTSQEPPDTTS	ENST00000215637	NM_130760.2	246	ccg/ccGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAg	0	1	1	UPI000013C68F	0		ENST00000215637		ENSG00000099866	6765		15			HGNC	p.P246delinsPESPDTTSQEPPDTTSQ	rs770954228	MADCAM1		insertion	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.9059						ENST00000215637	protein_coding			hmmpanther:PTHR14162,hmmpanther:PTHR14162:SF0,Low_complexity_(Seg):seg		P/PESPDTTSQEPPDTTSQ	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.8072	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA		783-784/1577				B9EGE2_HUMAN			YES	MADCAM1,inframe_insertion,p.Ser42_Pro43insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000587541,;MADCAM1,inframe_insertion,p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000215637,NM_130760.2;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.2,intron_variant,,ENST00000592413,;							MODERATE	737-738/1149		MADCA_HUMAN			Transcript	47		.	ENSP00000215637		CCDS12028.1			1	
SIDT2	0	LGGM	GRCh37	11	117053520	117053520	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	10	5	.	.	ENST00000324225.4:c.700C>A	p.Gln234Lys	p.Q234K	ENST00000324225	NM_001040455.1	234	Cag/Aag	0	1	1	UPI000004BA68	0	NA	ENST00000324225		ENSG00000149577	24272		15	2.52		HGNC	p.Q234K		SIDT2		SNV							ENST00000324225	protein_coding	getma.org/?cm=var&var=hg19,11,117053520,C,A&fts=all		hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16,Pfam_domain:PF13965		Q/K		A	medium	1231/4406		getma.org/?cm=msa&ty=f&p=SIDT2_HUMAN&rb=169&re=832&var=Q234K	tolerated(0.07)	G3V172_HUMAN,E9PPN9_HUMAN,E9PME7_HUMAN,E9PMC3_HUMAN			YES	SIDT2,missense_variant,p.Gln234Lys,ENST00000324225,NM_001040455.1;SIDT2,missense_variant,p.Gln234Lys,ENST00000431081,;SIDT2,missense_variant,p.Gln234Lys,ENST00000278951,;SIDT2,missense_variant,p.Gln84Lys,ENST00000524842,;SIDT2,downstream_gene_variant,,ENST00000531353,;SIDT2,downstream_gene_variant,,ENST00000532960,;SIDT2,splice_region_variant,,ENST00000530948,;SIDT2,intron_variant,,ENST00000525339,;SIDT2,splice_region_variant,,ENST00000531255,;SIDT2,upstream_gene_variant,,ENST00000526813,;SIDT2,upstream_gene_variant,,ENST00000529441,;SIDT2,downstream_gene_variant,,ENST00000528397,;							MODERATE	700/2499	Q234K	SIDT2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000314023		CCDS31682.1			1	
RABEPK	0	LGGM	GRCh37	9	127996007	127996007	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	80	5	.	.	ENST00000373538.3:c.867A>G	p.Leu289=	p.L289=	ENST00000373538	NM_005833.3	289	ctA/ctG	0	1	1	UPI000013D058	0		ENST00000373538		ENSG00000136933	16896		85			HGNC	p.L289L		RABEPK		SNV							ENST00000394125	protein_coding			hmmpanther:PTHR23244:SF257,hmmpanther:PTHR23244,Gene3D:1zgkA00,Superfamily_domains:0052715		L		G		1177/1504							YES	RABEPK,synonymous_variant,p.=,ENST00000373538,NM_005833.3;RABEPK,synonymous_variant,p.=,ENST00000394125,NM_001174152.1;RABEPK,synonymous_variant,p.=,ENST00000259460,NM_001174153.1;RABEPK,3_prime_UTR_variant,,ENST00000394124,;HSPA5,downstream_gene_variant,,ENST00000324460,NM_005347.4;							LOW	867/1119		RABEK_HUMAN			Transcript			.	ENSP00000362639		CCDS6862.1			1	
TBC1D2B	0	LGGM	GRCh37	15	78301431	78301431	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	82	5	.	.	ENST00000300584.3:c.2296C>T	p.Leu766=	p.L766=	ENST00000300584	NM_144572.1	766	Ctg/Ttg	0	1	1	UPI0000E02247	0		ENST00000300584		ENSG00000167202	29183		87			HGNC	p.L766L		TBC1D2B		SNV							ENST00000300584	protein_coding			PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF231,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		L		A		2296/6067				Q69YW7_HUMAN,B2RTQ2_HUMAN			YES	TBC1D2B,synonymous_variant,p.=,ENST00000409931,;TBC1D2B,synonymous_variant,p.=,ENST00000300584,NM_144572.1,NM_015079.5;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000472786,;							LOW	2296/2892		TBD2B_HUMAN			Transcript			.	ENSP00000300584		CCDS45314.1			1	
SIGLEC10	0	LGGM	GRCh37	19	51918272	51918272	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	5	6	.	.	ENST00000356298.5:c.1421T>C	p.Leu474Pro	p.L474P	ENST00000356298	NM_033130.4	474	cTg/cCg	0	1		UPI0000047E1A	0	NA	ENST00000339313		ENSG00000142512	15620		11	3.04		HGNC	p.L416P		SIGLEC10		SNV							ENST00000439889	protein_coding	getma.org/?cm=var&var=hg19,19,51918272,A,G&fts=all		hmmpanther:PTHR12035:SF13,hmmpanther:PTHR12035,Superfamily_domains:SSF48726		L/P		G	medium	1538/2256		getma.org/?cm=msa&ty=f&p=SIG10_HUMAN&rb=452&re=536&var=L474P	deleterious(0)					SIGLEC10,missense_variant,p.Leu474Pro,ENST00000356298,NM_033130.4;SIGLEC10,missense_variant,p.Leu474Pro,ENST00000339313,;SIGLEC10,missense_variant,p.Leu416Pro,ENST00000439889,NM_001171156.1;SIGLEC10,intron_variant,,ENST00000353836,NM_001171157.1,NM_001171159.1,NM_001171158.1;SIGLEC10,intron_variant,,ENST00000432469,;SIGLEC10,intron_variant,,ENST00000441969,;SIGLEC10,intron_variant,,ENST00000442846,NM_001171161.1;SIGLEC10,intron_variant,,ENST00000525998,;SIGLEC10,intron_variant,,ENST00000436984,;SIGLEC10,downstream_gene_variant,,ENST00000529627,;SIGLEC10,downstream_gene_variant,,ENST00000530476,;CTD-2616J11.2,upstream_gene_variant,,ENST00000532688,;CTD-2616J11.2,upstream_gene_variant,,ENST00000526996,;CTD-2616J11.3,downstream_gene_variant,,ENST00000532473,;SIGLEC10,non_coding_transcript_exon_variant,,ENST00000357375,;SIGLEC10,downstream_gene_variant,,ENST00000524527,;							MODERATE	1421/2094	L474P	SIG10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345243		CCDS12832.1			1	
DMXL2	0	LGGM	GRCh37	15	51860692	51860692	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	18	6	.	.	ENST00000543779.2:c.277A>C	p.Arg93=	p.R93=	ENST00000543779		93	Aga/Cga	0	1		UPI000013CCDD	0		ENST00000251076		ENSG00000104093	2938		24			HGNC	p.R93R		DMXL2		SNV							ENST00000449909	protein_coding			hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11,Superfamily_domains:SSF50978		R		G		565/10672								DMXL2,synonymous_variant,p.=,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,synonymous_variant,p.=,ENST00000543779,;DMXL2,synonymous_variant,p.=,ENST00000449909,NM_001174117.1;DMXL2,non_coding_transcript_exon_variant,,ENST00000560421,;DMXL2,non_coding_transcript_exon_variant,,ENST00000558507,;							LOW	277/9111		DMXL2_HUMAN			Transcript			.	ENSP00000251076		CCDS10141.1			1	
ATG2B	0	LGGM	GRCh37	14	96788926	96788926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	22	6	.	.	ENST00000359933.4:c.2687C>T	p.Pro896Leu	p.P896L	ENST00000359933	NM_018036.5	896	cCa/cTa	0	1	1	UPI000155D51F	0	NA	ENST00000359933		ENSG00000066739	20187		28	1.955		HGNC	p.P896L		ATG2B		SNV							ENST00000359933	protein_coding	getma.org/?cm=var&var=hg19,14,96788926,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13190:SF19,hmmpanther:PTHR13190		P/L		A	medium	3581/11628		getma.org/?cm=msa&ty=f&p=ATG2B_HUMAN&rb=730&re=929&var=P896L	deleterious(0)				YES	ATG2B,missense_variant,p.Pro896Leu,ENST00000359933,NM_018036.5;snoU13,downstream_gene_variant,,ENST00000458931,;ATG2B,non_coding_transcript_exon_variant,,ENST00000473234,;ATG2B,upstream_gene_variant,,ENST00000488421,;							MODERATE	2687/6237	P896L	ATG2B_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000353010		CCDS9944.2			1	
WBP11	0	LGGM	GRCh37	12	14942035	14942035	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	7	6	.	.	ENST00000261167.2:c.1342C>G	p.Pro448Ala	p.P448A	ENST00000261167	NM_016312.2	448	Cca/Gca	0	1	1	UPI0000035FC2	0	NA	ENST00000261167		ENSG00000084463	16461		13	2.25		HGNC	p.P448A		WBP11		SNV							ENST00000261167	protein_coding	getma.org/?cm=var&var=hg19,12,14942035,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361		P/A		C	medium	1576/2749		getma.org/?cm=msa&ty=f&p=WBP11_HUMAN&rb=295&re=494&var=P448A	tolerated_low_confidence(0.12)	F5GXS9_HUMAN,B4DMD3_HUMAN			YES	WBP11,missense_variant,p.Pro448Ala,ENST00000261167,NM_016312.2;WBP11,downstream_gene_variant,,ENST00000535638,;							MODERATE	1342/1926	P448A	WBP11_HUMAN			Transcript		unknown(0)	.	ENSP00000261167		CCDS8666.1			1	
GPATCH3	0	LGGM	GRCh37	1	27220900	27220900	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	66	6	.	.	ENST00000361720.5:c.878A>G	p.Asp293Gly	p.D293G	ENST00000361720	NM_022078.2	293	gAc/gGc	0	1	1	UPI000003E830	0	NA	ENST00000361720		ENSG00000198746	25720		72	2.54		HGNC	p.D293G		GPATCH3		SNV							ENST00000361720	protein_coding	getma.org/?cm=var&var=hg19,1,27220900,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14390		D/G		C	medium	902/2123		getma.org/?cm=msa&ty=f&p=GPTC3_HUMAN&rb=201&re=400&var=D293G	deleterious(0.01)	Q5JYG5_HUMAN,B4E015_HUMAN			YES	GPATCH3,missense_variant,p.Asp293Gly,ENST00000361720,NM_022078.2;GPN2,upstream_gene_variant,,ENST00000374135,NM_018066.3;GPN2,upstream_gene_variant,,ENST00000431781,;GPATCH3,upstream_gene_variant,,ENST00000445019,;GPATCH3,upstream_gene_variant,,ENST00000450844,;							MODERATE	878/1578	D293G	GPTC3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000354645		CCDS290.1			1	
YIPF1	0	LGGM	GRCh37	1	54344370	54344370	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	32	6	.	.	ENST00000072644.1:c.221C>G	p.Ser74Cys	p.S74C	ENST00000072644	NM_018982.4	74	tCc/tGc	0	1	1	UPI000006FF6D	0	NA	ENST00000072644		ENSG00000058799	25231		38	1.32		HGNC	p.S74C		YIPF1		SNV							ENST00000464950	protein_coding	getma.org/?cm=var&var=hg19,1,54344370,G,C&fts=all		hmmpanther:PTHR12822:SF4,hmmpanther:PTHR12822		S/C		C	low	558/1803		getma.org/?cm=msa&ty=f&p=YIPF1_HUMAN&rb=1&re=85&var=S74C	deleterious(0.03)				YES	YIPF1,missense_variant,p.Ser74Cys,ENST00000072644,NM_018982.4;YIPF1,missense_variant,p.Ser99Cys,ENST00000539954,;YIPF1,missense_variant,p.Ser74Cys,ENST00000412288,;YIPF1,5_prime_UTR_variant,,ENST00000371399,;YIPF1,non_coding_transcript_exon_variant,,ENST00000469457,;YIPF1,non_coding_transcript_exon_variant,,ENST00000480151,;YIPF1,non_coding_transcript_exon_variant,,ENST00000465897,;YIPF1,non_coding_transcript_exon_variant,,ENST00000472983,;YIPF1,missense_variant,p.Ser74Cys,ENST00000464950,;							MODERATE	221/921	S74C	YIPF1_HUMAN			Transcript		possibly_damaging(0.625)	.	ENSP00000072644		CCDS584.1			1	
IGKV3D-11	0	LGGM	GRCh37	2	90212025	90212025	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	30	6	.	.	ENST00000390277.2:c.117C>A	p.Ala39=	p.A39=	ENST00000390277		39	gcC/gcA	0	1	1	UPI000173A59B	0		ENST00000390277		ENSG00000211632	5823		36			HGNC	p.A39A		IGKV3D-11		SNV							ENST00000390277	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		A		214/442							YES	IGKV3D-11,synonymous_variant,p.=,ENST00000390277,;							LOW	117/345					Transcript			.	ENSP00000374812					1	
ENPP2	0	LGGM	GRCh37	8	120629424	120629424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	27	7	.	.	ENST00000259486.6:c.637A>T	p.Asn213Tyr	p.N213Y	ENST00000259486	NM_006209.4	213	Aac/Tac	0	1		UPI000013D05C	0	getma.org/pdb.php?prot=ENPP2_HUMAN&from=166&to=287&var=N213Y	ENST00000075322		ENSG00000136960	3357		34	3.01		HGNC	p.N213Y		ENPP2		SNV							ENST00000075322	protein_coding	getma.org/?cm=var&var=hg19,8,120629424,T,A&fts=all		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649		N/Y		A	medium	696/2651		getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=166&re=287&var=N213Y	deleterious(0)					ENPP2,missense_variant,p.Asn209Tyr,ENST00000427067,;ENPP2,missense_variant,p.Asn213Tyr,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Asn213Tyr,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Asn213Tyr,ENST00000075322,NM_001040092.2;ENPP2,missense_variant,p.Asn195Tyr,ENST00000520066,;ENPP2,3_prime_UTR_variant,,ENST00000518958,;RP11-99I9.2,downstream_gene_variant,,ENST00000519781,;							MODERATE	637/2592	N213Y	ENPP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000075322		CCDS34936.1			1	
CASR	0	LGGM	GRCh37	3	122003210	122003210	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	26	8	.	.	ENST00000498619.1:c.2439A>G	p.Glu813=	p.E813=	ENST00000498619	NM_001178065.1	813	gaA/gaG	0	1		UPI000013E30B	0		ENST00000490131		ENSG00000036828	1514		34			HGNC	p.E803E		CASR		SNV			1				ENST00000296154	protein_coding			PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,PROSITE_patterns:PS00981,Pfam_domain:PF00003,Prints_domain:PR00248		E		G		2781/3783				Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN				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,;							LOW	2409/3237		CASR_HUMAN			Transcript			.	ENSP00000418685		CCDS3010.1			1	
NDUFV3	0	LGGM	GRCh37	21	44324196	44324196	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	19	8	.	.	ENST00000354250.2:c.1074G>T	p.Gln358His	p.Q358H	ENST00000354250	NM_021075.3	358	caG/caT	0	1		UPI0000130A1F	0	NA	ENST00000340344		ENSG00000160194	7719		27	1.04		HGNC	p.Q358H		NDUFV3		SNV							ENST00000354250	protein_coding	getma.org/?cm=var&var=hg19,21,44324196,G,T&fts=all						T	low	-/4676		getma.org/?cm=msa&ty=f&p=Q96DP0_HUMAN&rb=203&re=402&var=Q341H						NDUFV3,missense_variant,p.Gln358His,ENST00000354250,NM_021075.3;NDUFV3,intron_variant,,ENST00000340344,NM_001001503.1;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460259,;NDUFV3,downstream_gene_variant,,ENST00000460740,;							MODIFIER	-/327	Q341H	NDUV3_HUMAN			Transcript			.	ENSP00000342895		CCDS33573.1			1	
SPIN4	0	LGGM	GRCh37	X	62570391	62570391	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	4	8	.	.	ENST00000335144.3:c.308A>C	p.Glu103Ala	p.E103A	ENST00000335144	NM_001012968.2	103	gAg/gCg	0	1	1	UPI000013FD3C	0	getma.org/pdb.php?prot=SPIN4_HUMAN&from=91&to=118&var=E103A	ENST00000335144		ENSG00000186767	27040		12	1.1		HGNC	p.E85A		SPIN4		SNV							ENST00000374884	protein_coding	getma.org/?cm=var&var=hg19,X,62570391,T,G&fts=all		hmmpanther:PTHR10405,hmmpanther:PTHR10405:SF9		E/A		G	low	828/4112		getma.org/?cm=msa&ty=f&p=SPIN4_HUMAN&rb=61&re=148&var=E103A	tolerated(0.06)				YES	SPIN4,missense_variant,p.Glu85Ala,ENST00000374884,;SPIN4,missense_variant,p.Glu103Ala,ENST00000335144,NM_001012968.2;RP11-357C3.3,intron_variant,,ENST00000610234,;RP11-357C3.3,intron_variant,,ENST00000610088,;SPIN4-AS1,intron_variant,,ENST00000451979,;							MODERATE	308/750	E103A	SPIN4_HUMAN			Transcript		benign(0.041)	.	ENSP00000334163		CCDS43964.1			1	
TMUB2	0	LGGM	GRCh37	17	42266665	42266665	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	17	8	.	.	ENST00000587989.1:c.311A>C	p.Glu104Ala	p.E104A	ENST00000587989		104	gAg/gCg	0	1		UPI0000201381	0	NA	ENST00000538716		ENSG00000168591	28459		25	0.95		HGNC	p.E84A		TMUB2		SNV							ENST00000590235	protein_coding	getma.org/?cm=var&var=hg19,17,42266665,A,C&fts=all		hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF4		E/A		C	low	464/1953		getma.org/?cm=msa&ty=f&p=TMUB2_HUMAN&rb=1&re=186&var=E104A	tolerated(0.21)					TMUB2,missense_variant,p.Glu84Ala,ENST00000319511,NM_177441.2;TMUB2,missense_variant,p.Glu84Ala,ENST00000592825,;TMUB2,missense_variant,p.Glu104Ala,ENST00000587989,;TMUB2,missense_variant,p.Glu104Ala,ENST00000538716,NM_001076674.1;TMUB2,missense_variant,p.Glu84Ala,ENST00000357984,NM_024107.2;TMUB2,missense_variant,p.Glu84Ala,ENST00000589785,;TMUB2,missense_variant,p.Glu84Ala,ENST00000587172,;TMUB2,missense_variant,p.Glu84Ala,ENST00000446571,;TMUB2,missense_variant,p.Glu84Ala,ENST00000590235,;TMUB2,missense_variant,p.Glu84Ala,ENST00000589856,;TMUB2,intron_variant,,ENST00000589184,;ATXN7L3,downstream_gene_variant,,ENST00000389384,NM_001098833.1;ATXN7L3,downstream_gene_variant,,ENST00000454077,NM_020218.1;ATXN7L3,downstream_gene_variant,,ENST00000591295,;TMUB2,upstream_gene_variant,,ENST00000587630,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ATXN7L3,downstream_gene_variant,,ENST00000593073,;TMUB2,missense_variant,p.Glu84Ala,ENST00000587326,;TMUB2,splice_region_variant,p.=,ENST00000588413,;TMUB2,splice_region_variant,p.=,ENST00000587775,;							MODERATE	311/966	E104A	TMUB2_HUMAN			Transcript		benign(0.031)	.	ENSP00000444565		CCDS54134.1			1	
COPS2	0	LGGM	GRCh37	15	49431751	49431751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	38	8	.	.	ENST00000299259.6:c.346C>A	p.Leu116Ile	p.L116I	ENST00000299259		116	Ctt/Att	0	1		UPI000000167F	0	NA	ENST00000388901		ENSG00000166200	30747		46	2.595		HGNC	p.L116I	COSM1373314	COPS2		SNV						1	ENST00000388901	protein_coding	getma.org/?cm=var&var=hg19,15,49431751,G,T&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR10678		L/I		T	medium	420/4061		getma.org/?cm=msa&ty=f&p=CSN2_HUMAN&rb=1&re=200&var=L116I	deleterious(0.02)	H0YKU5_HUMAN				COPS2,missense_variant,p.Leu116Ile,ENST00000388901,NM_001143887.1,NM_004236.3;COPS2,missense_variant,p.Leu116Ile,ENST00000299259,;COPS2,missense_variant,p.Leu52Ile,ENST00000542928,;COPS2,missense_variant,p.Leu116Ile,ENST00000558843,;COPS2,missense_variant,p.Leu52Ile,ENST00000561248,;Y_RNA,upstream_gene_variant,,ENST00000363250,;COPS2,non_coding_transcript_exon_variant,,ENST00000558545,;COPS2,upstream_gene_variant,,ENST00000559016,;					1		MODERATE	346/1332	L116I	CSN2_HUMAN			Transcript		possibly_damaging(0.685)	.	ENSP00000373553		CCDS32235.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266104	41266104	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	26	9	.	.	ENST00000349496.5:c.101G>C	p.Gly34Ala	p.G34A	ENST00000349496	NM_001904.3	34	gGa/gCa	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=G34A	ENST00000349496		ENSG00000168036	2514		35	2.095		HGNC	p.G34A		CTNNB1		SNV			1				ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266104,G,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		G/A		C	medium	381/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=G34A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Gly34Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Gly34Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Gly34Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Gly27Ala,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Ala,ENST00000405570,;CTNNB1,missense_variant,p.Gly34Ala,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Ala,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Ala,ENST00000441708,;CTNNB1,missense_variant,p.Gly27Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;							MODERATE	101/2346	G34A	CTNB1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000344456		CCDS2694.1			1	
NBEAL1	0	LGGM	GRCh37	2	203991549	203991549	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	53	9	.	.	ENST00000449802.1:c.3061C>T	p.His1021Tyr	p.H1021Y	ENST00000449802	NM_001114132.1	1021	Cac/Tac	0	1	1	UPI000194EC27	0	NA	ENST00000449802		ENSG00000144426	20681		62	2.365		HGNC	p.H1021Y		NBEAL1		SNV							ENST00000449802	protein_coding	getma.org/?cm=var&var=hg19,2,203991549,C,T&fts=all		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743		H/Y		T	medium	3394/10938		getma.org/?cm=msa&ty=f&p=NBEL1_HUMAN&rb=1002&re=1201&var=H1021Y	deleterious(0)				YES	NBEAL1,missense_variant,p.His1021Tyr,ENST00000449802,NM_001114132.1;							MODERATE	3061/8085	H1021Y	NBEL1_HUMAN			Transcript		benign(0.033)	.	ENSP00000399903		CCDS46495.1			1	
OR2L8	0	LGGM	GRCh37	1	248112994	248112994	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	105	9	.	.	ENST00000357191.3:c.835A>G	p.Ile279Val	p.I279V	ENST00000357191	NM_001001963.1	279	Atc/Gtc	0	1	1	UPI0000061E5D	0	NA	ENST00000357191		ENSG00000196936	15014		114	0.18		HGNC	p.I279V		OR2L8		SNV							ENST00000357191	protein_coding	getma.org/?cm=var&var=hg19,1,248112994,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/V		G	neutral	835/939		getma.org/?cm=msa&ty=f&p=OR2L8_HUMAN&rb=138&re=282&var=I279V	tolerated(0.12)				YES	OR2L8,missense_variant,p.Ile279Val,ENST00000357191,NM_001001963.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	835/939	I279V	OR2L8_HUMAN			Transcript		benign(0.207)	.	ENSP00000349719		CCDS31101.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266103	41266103	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	26	9	.	.	ENST00000349496.5:c.100G>T	p.Gly34Ter	p.G34*	ENST00000349496	NM_001904.3	34	Gga/Tga	0	1	1	UPI000012862F	0	NA	ENST00000349496		ENSG00000168036	2514		35	0		HGNC	p.G34X	COSM3660550	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266103,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		G/*		T	NA	380/3729		NA		G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,stop_gained,p.Gly34Ter,ENST00000349496,NM_001904.3;CTNNB1,stop_gained,p.Gly34Ter,ENST00000396185,NM_001098209.1;CTNNB1,stop_gained,p.Gly34Ter,ENST00000396183,NM_001098210.1;CTNNB1,stop_gained,p.Gly27Ter,ENST00000453024,;CTNNB1,stop_gained,p.Gly34Ter,ENST00000405570,;CTNNB1,stop_gained,p.Gly34Ter,ENST00000450969,;CTNNB1,stop_gained,p.Gly34Ter,ENST00000431914,;CTNNB1,stop_gained,p.Gly34Ter,ENST00000441708,;CTNNB1,stop_gained,p.Gly27Ter,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		HIGH	100/2346	G34*	CTNB1_HUMAN			Transcript			.	ENSP00000344456		CCDS2694.1			1	
VCAN	0	LGGM	GRCh37	5	82816994	82816994	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	48	10	.	.	ENST00000265077.3:c.2869T>C	p.Tyr957His	p.Y957H	ENST00000265077	NM_004385.4	957	Tat/Cat	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		58	2.015		HGNC	p.Y909H		VCAN		SNV			1				ENST00000512590	protein_coding	getma.org/?cm=var&var=hg19,5,82816994,T,C&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		Y/H		C	medium	3434/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=441&re=2065&var=Y957H	tolerated(0.25)				YES	VCAN,missense_variant,p.Tyr957His,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Tyr957His,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Tyr909His,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000515397,;							MODERATE	2869/10191	Y957H	CSPG2_HUMAN			Transcript		benign(0.055)	.	ENSP00000265077		CCDS4060.1			1	
UGP2	0	LGGM	GRCh37	2	64114716	64114716	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	55	10	.	.	ENST00000337130.5:c.1252A>C	p.Met418Leu	p.M418L	ENST00000337130	NM_006759.3	418	Atg/Ctg	0	1	1	UPI000000DB95	0	getma.org/pdb.php?prot=UGPA_HUMAN&from=54&to=473&var=M418L	ENST00000337130		ENSG00000169764	12527		65	0.14		HGNC	p.M407L		UGP2		SNV							ENST00000394417	protein_coding	getma.org/?cm=var&var=hg19,2,64114716,A,C&fts=all		Pfam_domain:PF01704,PIRSF_domain:PIRSF000806,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF1,Superfamily_domains:SSF53448		M/L		C	neutral	1728/2338		getma.org/?cm=msa&ty=f&p=UGPA_HUMAN&rb=54&re=473&var=M418L	tolerated(0.41)	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN			YES	UGP2,missense_variant,p.Met418Leu,ENST00000337130,NM_006759.3;UGP2,missense_variant,p.Met407Leu,ENST00000394417,NM_001001521.1;UGP2,missense_variant,p.Met407Leu,ENST00000467648,;UGP2,missense_variant,p.Met427Leu,ENST00000445915,;VPS54,downstream_gene_variant,,ENST00000409558,NM_016516.2,NM_001005739.1;UGP2,downstream_gene_variant,,ENST00000488245,;UGP2,downstream_gene_variant,,ENST00000491621,;UGP2,downstream_gene_variant,,ENST00000497883,;UGP2,downstream_gene_variant,,ENST00000475462,;UGP2,downstream_gene_variant,,ENST00000472047,;ACA59,upstream_gene_variant,,ENST00000515966,;UGP2,downstream_gene_variant,,ENST00000487469,;UGP2,downstream_gene_variant,,ENST00000495020,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,downstream_gene_variant,,ENST00000466642,;UGP2,downstream_gene_variant,,ENST00000487042,;UGP2,downstream_gene_variant,,ENST00000493222,;UGP2,downstream_gene_variant,,ENST00000467999,;UGP2,downstream_gene_variant,,ENST00000497510,;UGP2,downstream_gene_variant,,ENST00000467400,;UGP2,downstream_gene_variant,,ENST00000494536,;UGP2,downstream_gene_variant,,ENST00000496334,;UGP2,downstream_gene_variant,,ENST00000483461,;							MODERATE	1252/1527	M418L	UGPA_HUMAN			Transcript		benign(0.015)	.	ENSP00000338703		CCDS1875.1			1	
VAMP5	0	LGGM	GRCh37	2	85818875	85818875	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	15	10	.	.	ENST00000306384.4:c.31C>G	p.Gln11Glu	p.Q11E	ENST00000306384	NM_006634.2	11	Cag/Gag	0	1	1	UPI00001380F4	0	getma.org/pdb.php?prot=VAMP5_HUMAN&from=3&to=90&var=Q11E	ENST00000306384		ENSG00000168899	12646		25	0.985		HGNC	p.Q11E		VAMP5		SNV							ENST00000306384	protein_coding	getma.org/?cm=var&var=hg19,2,85818875,C,G&fts=all		PROSITE_profiles:PS50892,hmmpanther:PTHR21136:SF82,hmmpanther:PTHR21136,Pfam_domain:PF00957,Gene3D:2kogA00,PIRSF_domain:PIRSF005409,Superfamily_domains:SSF58038,Prints_domain:PR00219		Q/E		G	low	114/689		getma.org/?cm=msa&ty=f&p=VAMP5_HUMAN&rb=3&re=90&var=Q11E	tolerated(0.51)	Q6FG93_HUMAN			YES	VAMP5,missense_variant,p.Gln11Glu,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,;							MODERATE	31/351	Q11E	VAMP5_HUMAN			Transcript		benign(0.053)	.	ENSP00000305647		CCDS1980.1			1	
HSD17B14	0	LGGM	GRCh37	19	49316955	49316955	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	39	10	.	.	ENST00000263278.4:c.507C>T	p.Ala169=	p.A169=	ENST00000263278	NM_016246.2	169	gcC/gcT	0	1	1	UPI000004FACC	0		ENST00000263278		ENSG00000087076	23238		49			HGNC	p.A133A		HSD17B14		SNV							ENST00000595764	protein_coding			hmmpanther:PTHR24316:SF290,hmmpanther:PTHR24316,PROSITE_patterns:PS00061,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735,Prints_domain:PR00081,Prints_domain:PR00080		A		A		774/1238							YES	HSD17B14,synonymous_variant,p.=,ENST00000263278,NM_016246.2;HSD17B14,synonymous_variant,p.=,ENST00000599157,;HSD17B14,synonymous_variant,p.=,ENST00000595764,;HSD17B14,synonymous_variant,p.=,ENST00000596349,;BCAT2,upstream_gene_variant,,ENST00000402551,NM_001284325.1;BCAT2,upstream_gene_variant,,ENST00000597011,;BCAT2,upstream_gene_variant,,ENST00000316273,NM_001190.3;BCAT2,upstream_gene_variant,,ENST00000599246,;BCAT2,upstream_gene_variant,,ENST00000598162,;BCAT2,upstream_gene_variant,,ENST00000545387,NM_001164773.1;BCAT2,upstream_gene_variant,,ENST00000601681,;BCAT2,upstream_gene_variant,,ENST00000601496,;BCAT2,upstream_gene_variant,,ENST00000596981,;							LOW	507/813		DHB14_HUMAN			Transcript			.	ENSP00000263278		CCDS12736.1			1	
KIAA0196	0	LGGM	GRCh37	8	126040944	126040944	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	56	10	.	.	ENST00000318410.7:c.3341A>T	p.Lys1114Met	p.K1114M	ENST00000318410	NM_014846.3	1114	aAg/aTg	0	1	1	UPI000013943B	0	NA	ENST00000318410		ENSG00000164961	28984		66	1.845		HGNC	p.K966M		KIAA0196		SNV			1				ENST00000517845	protein_coding	getma.org/?cm=var&var=hg19,8,126040944,T,A&fts=all		hmmpanther:PTHR15691		K/M		A	low	3691/4187		getma.org/?cm=msa&ty=f&p=STRUM_HUMAN&rb=1104&re=1159&var=K1114M	deleterious(0)	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN			YES	KIAA0196,missense_variant,p.Lys1114Met,ENST00000318410,NM_014846.3;KIAA0196,missense_variant,p.Lys966Met,ENST00000517845,;KIAA0196,non_coding_transcript_exon_variant,,ENST00000519042,;							MODERATE	3341/3480	K1114M	STRUM_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000318016		CCDS6355.1			1	
C15orf53	0	LGGM	GRCh37	15	38990525	38990525	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	32	10	.	.	ENST00000318792.1:c.319T>A	p.Ser107Thr	p.S107T	ENST00000318792	NM_207444.2	107	Tcc/Acc	0	1	1	UPI000007303A	0	NA	ENST00000318792		ENSG00000175779	33796		42	0		HGNC	p.S107T		C15orf53		SNV							ENST00000318792	protein_coding	getma.org/?cm=var&var=hg19,15,38990525,T,A&fts=all				S/T		A	neutral	329/2043		getma.org/?cm=msa&ty=f&p=CO053_HUMAN&rb=1&re=179&var=S107T	deleterious_low_confidence(0)				YES	C15orf53,missense_variant,p.Ser107Thr,ENST00000318792,NM_207444.2;							MODERATE	319/540	S107T	CO053_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000325144		CCDS10048.1			1	
EFNA5	0	LGGM	GRCh37	5	106763058	106763058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	53	11	.	.	ENST00000333274.6:c.278C>A	p.Thr93Asn	p.T93N	ENST00000333274	NM_001962.2	93	aCt/aAt	0	1	1	UPI0000129C93	0	getma.org/pdb.php?prot=EFNA5_HUMAN&from=26&to=164&var=T93N	ENST00000333274		ENSG00000184349	3225		64	2.24		HGNC	p.T93N		EFNA5		SNV							ENST00000509503	protein_coding	getma.org/?cm=var&var=hg19,5,106763058,G,T&fts=all		Superfamily_domains:SSF49503,Gene3D:2.60.40.420,Pfam_domain:PF00812,hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF33,PROSITE_profiles:PS51551		T/N		T	medium	560/5335		getma.org/?cm=msa&ty=f&p=EFNA5_HUMAN&rb=26&re=164&var=T93N	tolerated(0.32)				YES	EFNA5,missense_variant,p.Thr93Asn,ENST00000333274,NM_001962.2;EFNA5,missense_variant,p.Thr93Asn,ENST00000509503,;EFNA5,non_coding_transcript_exon_variant,,ENST00000505499,;EFNA5,non_coding_transcript_exon_variant,,ENST00000504941,;							MODERATE	278/687	T93N	EFNA5_HUMAN			Transcript		benign(0.009)	.	ENSP00000328777		CCDS4097.1			1	
BAZ2B	0	LGGM	GRCh37	2	160205253	160205253	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	21	11	.	.	ENST00000392783.2:c.5229A>T	p.Ala1743=	p.A1743=	ENST00000392783	NM_013450.2	1743	gcA/gcT	0	1	1	UPI0000D74C4A	0		ENST00000392783		ENSG00000123636	963		32			HGNC	p.A1643A		BAZ2B		SNV							ENST00000343439	protein_coding			hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144		A		A		5725/8289				Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,synonymous_variant,p.=,ENST00000392783,NM_013450.2;BAZ2B,synonymous_variant,p.=,ENST00000392782,;BAZ2B,synonymous_variant,p.=,ENST00000355831,;BAZ2B,synonymous_variant,p.=,ENST00000343439,;BAZ2B,upstream_gene_variant,,ENST00000426648,;BAZ2B,upstream_gene_variant,,ENST00000474437,;							LOW	5229/6507		BAZ2B_HUMAN			Transcript			.	ENSP00000376534		CCDS2209.2			1	
XCR1	0	LGGM	GRCh37	3	46063323	46063323	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	19	11	.	.	ENST00000309285.3:c.117C>G	p.Cys39Trp	p.C39W	ENST00000309285	NM_001024644.1	39	tgC/tgG	0	1	1	UPI000004358D	0	NA	ENST00000309285		ENSG00000173578	1625		30	0		HGNC	p.C39W		XCR1		SNV							ENST00000309285	protein_coding	getma.org/?cm=var&var=hg19,3,46063323,G,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24227:SF59,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		C/W		C	neutral	474/5281		getma.org/?cm=msa&ty=f&p=XCR1_HUMAN&rb=1&re=47&var=C39W	deleterious(0.02)	Q689E2_HUMAN			YES	XCR1,missense_variant,p.Cys39Trp,ENST00000309285,NM_001024644.1;XCR1,missense_variant,p.Cys39Trp,ENST00000542109,NM_005283.2;XCR1,downstream_gene_variant,,ENST00000395946,;NRBF2P2,upstream_gene_variant,,ENST00000413087,;							MODERATE	117/1002	C39W	XCR1_HUMAN			Transcript		possibly_damaging(0.502)	.	ENSP00000310405		CCDS2736.1			1	
KLHL6	0	LGGM	GRCh37	3	183210337	183210337	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	18	11	.	.	ENST00000341319.3:c.1509C>T	p.Pro503=	p.P503=	ENST00000341319	NM_130446.2	503	ccC/ccT	0	1	1	UPI0000169CB9	0		ENST00000341319		ENSG00000172578	18653		29			HGNC	p.P503P	rs377426357	KLHL6		SNV	A:0						ENST00000341319	protein_coding		A:0	hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Pfam_domain:PF01344,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		P	A:0.0001	A		1545/6298	4.50E-05				A:0	A:0.001	YES	KLHL6,synonymous_variant,p.=,ENST00000341319,NM_130446.2;KLHL6,synonymous_variant,p.=,ENST00000468734,;KLHL6,non_coding_transcript_exon_variant,,ENST00000489245,;		A:0.0002					LOW	1509/1866		KLHL6_HUMAN		A:0	Transcript			.	ENSP00000341342	2.47E-05	CCDS3245.2		A:0	1	
RNF26	0	LGGM	GRCh37	11	119205870	119205870	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	17	11	.	.	ENST00000311413.4:c.38T>A	p.Leu13Gln	p.L13Q	ENST00000311413	NM_032015.4	13	cTg/cAg	0	1	1	UPI0000001BF4	0	NA	ENST00000311413		ENSG00000173456	14646		28	0.55		HGNC	p.L13Q		RNF26		SNV							ENST00000311413	protein_coding	getma.org/?cm=var&var=hg19,11,119205870,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696		L/Q		A	neutral	634/2787		getma.org/?cm=msa&ty=f&p=RNF26_HUMAN&rb=1&re=319&var=L13Q	tolerated(0.38)				YES	RNF26,missense_variant,p.Leu13Gln,ENST00000311413,NM_032015.4;C1QTNF5,downstream_gene_variant,,ENST00000445041,NM_031433.3,NM_015645.4;MFRP,downstream_gene_variant,,ENST00000555262,;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,;							MODERATE	38/1302	L13Q	RNF26_HUMAN			Transcript		unknown(0)	.	ENSP00000312439		CCDS8419.1			1	
FBLN1	0	LGGM	GRCh37	22	45959041	45959041	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	45	11	.	.	ENST00000327858.6:c.1698-11350C>T		*566*	ENST00000327858	NM_006486.2			0	1	1	UPI00001AE84C	0		ENST00000327858		ENSG00000077942	3600		56			HGNC	p.P687P	rs746935261	FBLN1		SNV			1				ENST00000402984	protein_coding							T		-/2896	3.02E-05			B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN			YES	FBLN1,synonymous_variant,p.=,ENST00000402984,;FBLN1,synonymous_variant,p.=,ENST00000262722,NM_001996.3;FBLN1,intron_variant,,ENST00000348697,;FBLN1,intron_variant,,ENST00000327858,NM_006486.2;FBLN1,intron_variant,,ENST00000442170,NM_006485.3;FBLN1,downstream_gene_variant,,ENST00000340923,NM_006487.2;							MODIFIER	-/2112		FBLN1_HUMAN	0.000302		Transcript			.	ENSP00000331544	4.12E-05	CCDS14067.1	0.00111		1	
ZNF608	0	LGGM	GRCh37	5	123980200	123980200	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	66	12	.	.	ENST00000306315.5:c.3860C>T	p.Ser1287Leu	p.S1287L	ENST00000306315	NM_020747.2	1287	tCg/tTg	0	1	1	UPI000013EB23	0	NA	ENST00000306315	not_provided	ENSG00000168916	29238		78	1.39		HGNC	p.S860L	rs267600332	ZNF608		SNV						1	ENST00000504926	protein_coding	getma.org/?cm=var&var=hg19,5,123980200,G,A&fts=all	T:0	hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4		S/L		A	low	4296/5958	1.50E-05	getma.org/?cm=msa&ty=f&p=ZN608_HUMAN&rb=579&re=1510&var=S1287L	tolerated(0.1)	Q9UFL4_HUMAN,B3KPE6_HUMAN	T:0.0014	T:0	YES	ZNF608,missense_variant,p.Ser1287Leu,ENST00000306315,NM_020747.2;ZNF608,missense_variant,p.Ser860Leu,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,;ZNF608,3_prime_UTR_variant,,ENST00000505686,;		T:0.0002					MODERATE	3860/4539	S1287L	ZN608_HUMAN		T:0	Transcript		benign(0.395)	.	ENSP00000307746	8.24E-06	CCDS34219.1		T:0	1	
TACC2	0	LGGM	GRCh37	10	123842264	123842264	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	22	12	.	.	ENST00000369005.1:c.249C>G	p.Asp83Glu	p.D83E	ENST00000369005	NM_206862.2	83	gaC/gaG	0	1		UPI0000246F6B	0	NA	ENST00000334433		ENSG00000138162	11523		34	0.345		HGNC	p.D83E		TACC2		SNV							ENST00000334433	protein_coding	getma.org/?cm=var&var=hg19,10,123842264,C,G&fts=all		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		D/E		G	neutral	295/9377		getma.org/?cm=msa&ty=f&p=TACC2_HUMAN&rb=1&re=1559&var=D83E						TACC2,missense_variant,p.Asp83Glu,ENST00000369005,NM_206862.2;TACC2,missense_variant,p.Asp83Glu,ENST00000334433,;TACC2,missense_variant,p.Asp83Glu,ENST00000515273,;TACC2,missense_variant,p.Asp83Glu,ENST00000515603,;TACC2,missense_variant,p.Asp83Glu,ENST00000453444,;TACC2,missense_variant,p.Asp97Glu,ENST00000491540,;TACC2,intron_variant,,ENST00000513429,NM_206861.1;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000498721,;							MODERATE	249/8847	D83E	TACC2_HUMAN			Transcript		benign(0.03)	.	ENSP00000334280		CCDS7626.1			1	
SERPINB13	0	LGGM	GRCh37	18	61255977	61255977	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	17	12	.	.	ENST00000344731.5:c.76A>G	p.Asn26Asp	p.N26D	ENST00000344731	NM_012397.3	26	Aac/Gac	0	1	1	UPI000004EE29	0	getma.org/pdb.php?prot=SPB13_HUMAN&from=6&to=391&var=N26D	ENST00000344731		ENSG00000197641	8944		29	2.94		HGNC	p.N56D		SERPINB13		SNV							ENST00000431153	protein_coding	getma.org/?cm=var&var=hg19,18,61255977,A,G&fts=all		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF152,SMART_domains:SM00093,Superfamily_domains:SSF56574		N/D		G	medium	178/3114		getma.org/?cm=msa&ty=f&p=SPB13_HUMAN&rb=6&re=391&var=N26D	deleterious(0)				YES	SERPINB13,missense_variant,p.Asn26Asp,ENST00000344731,NM_012397.3;SERPINB13,missense_variant,p.Asn26Asp,ENST00000269489,;SERPINB13,missense_variant,p.Asn5Asp,ENST00000415733,;SERPINB13,missense_variant,p.Asn56Asp,ENST00000431153,;SERPINB13,missense_variant,p.Asn26Asp,ENST00000438844,;SERPINB13,non_coding_transcript_exon_variant,,ENST00000479842,;							MODERATE	76/1176	N26D	SPB13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341584		CCDS11985.1			1	
MTO1	0	LGGM	GRCh37	6	74183119	74183119	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	17	12	.	.	ENST00000415954.2:c.567G>A	p.Val189=	p.V189=	ENST00000415954	NM_001123226.1	189	gtG/gtA	0	1		UPI000012F816	0		ENST00000370300		ENSG00000135297	19261		29			HGNC	p.V189V		MTO1		SNV			1				ENST00000498286	protein_coding			Gene3D:3.50.50.60,Pfam_domain:PF01134,Prints_domain:PR00368,Prints_domain:PR00411,hmmpanther:PTHR11806,hmmpanther:PTHR11806:SF3,Superfamily_domains:SSF51905		V		A		657/2961								MTO1,synonymous_variant,p.=,ENST00000498286,;MTO1,synonymous_variant,p.=,ENST00000370300,NM_012123.3,NM_133645.2;MTO1,synonymous_variant,p.=,ENST00000415954,NM_001123226.1;MTO1,synonymous_variant,p.=,ENST00000370305,;AL603910.1,upstream_gene_variant,,ENST00000580608,;MTO1,non_coding_transcript_exon_variant,,ENST00000518210,;MTO1,3_prime_UTR_variant,,ENST00000522205,;MTO1,3_prime_UTR_variant,,ENST00000521032,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,intron_variant,,ENST00000462039,;MTO1,intron_variant,,ENST00000415228,;MTO1,intron_variant,,ENST00000442897,;MTO1,downstream_gene_variant,,ENST00000485082,;MTO1,upstream_gene_variant,,ENST00000466977,;							LOW	567/2154		MTO1_HUMAN			Transcript			.	ENSP00000359323		CCDS4979.1			1	
SIPA1L1	0	LGGM	GRCh37	14	72139263	72139263	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	14	12	.	.	ENST00000555818.1:c.3028A>G	p.Met1010Val	p.M1010V	ENST00000555818	NM_015556.1	1010	Atg/Gtg	0	1	1	UPI00000443CB	0	getma.org/pdb.php?prot=SI1L1_HUMAN&from=967&to=1045&var=M1010V	ENST00000555818		ENSG00000197555	20284		26	2.07		HGNC	p.M1010V		SIPA1L1		SNV							ENST00000358550	protein_coding	getma.org/?cm=var&var=hg19,14,72139263,A,G&fts=all		Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156		M/V		G	medium	3376/7831		getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=967&re=1045&var=M1010V	deleterious(0)	G3V4Z3_HUMAN			YES	SIPA1L1,missense_variant,p.Met1010Val,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Met1010Val,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Met1010Val,ENST00000381232,NM_001284245.1;SIPA1L1,missense_variant,p.Met485Val,ENST00000537413,;							MODERATE	3028/5415	M1010V	SI1L1_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000450832		CCDS9807.1			1	
SERPINC1	0	LGGM	GRCh37	1	173878778	173878778	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	79	12	.	.	ENST00000367698.3:c.1065C>T	p.Phe355=	p.F355=	ENST00000367698	NM_000488.3	355	ttC/ttT	0	1	1	UPI000002C0C1	0		ENST00000367698		ENSG00000117601	775		91			HGNC	p.F355F		SERPINC1		SNV			1				ENST00000367698	protein_coding			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF53,SMART_domains:SM00093,Superfamily_domains:SSF56574		F		A		1184/1594				Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN			YES	SERPINC1,synonymous_variant,p.=,ENST00000367698,NM_000488.3;SERPINC1,downstream_gene_variant,,ENST00000494024,;SERPINC1,downstream_gene_variant,,ENST00000487183,;							LOW	1065/1395		ANT3_HUMAN			Transcript			.	ENSP00000356671		CCDS1313.1			1	
SYCP2	0	LGGM	GRCh37	20	58444987	58444987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	16	13	.	.	ENST00000357552.3:c.3607A>G	p.Ser1203Gly	p.S1203G	ENST00000357552		1203	Agt/Ggt	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		29	0.345		HGNC	p.S1203G		SYCP2		SNV							ENST00000357552	protein_coding	getma.org/?cm=var&var=hg19,20,58444987,T,C&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		S/G		C	neutral	3833/5567		getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=401&re=1529&var=S1203G	tolerated(0.69)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Ser1203Gly,ENST00000357552,;SYCP2,missense_variant,p.Ser1203Gly,ENST00000371001,NM_014258.2;SYCP2,upstream_gene_variant,,ENST00000412613,;							MODERATE	3607/4593	S1203G	SYCP2_HUMAN			Transcript		benign(0.036)	.	ENSP00000350162		CCDS13482.1			1	
CYP2E1	0	LGGM	GRCh37	10	135347359	135347359	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	35	14	.	.	ENST00000463117.2:c.925A>T	p.Arg309Ter	p.R309*	ENST00000463117		309	Aga/Tga	0	1		UPI0000128291	0	NA	ENST00000252945		ENSG00000130649	2631		49	0		HGNC	p.R172X		CYP2E1		SNV							ENST00000418356	protein_coding	getma.org/?cm=var&var=hg19,10,135347359,A,T&fts=all		hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463,Prints_domain:PR00385		R/*		T	NA	958/1667		NA		Q4LBD0_HUMAN,F5H694_HUMAN				CYP2E1,stop_gained,p.Arg309Ter,ENST00000463117,;CYP2E1,stop_gained,p.Arg309Ter,ENST00000252945,NM_000773.3;CYP2E1,stop_gained,p.Arg222Ter,ENST00000421586,;CYP2E1,stop_gained,p.Arg172Ter,ENST00000418356,;SPRN,intron_variant,,ENST00000541506,;AL161645.2,upstream_gene_variant,,ENST00000599428,;CYP2E1,downstream_gene_variant,,ENST00000480558,;CYP2E1,upstream_gene_variant,,ENST00000469258,;CYP2E1,downstream_gene_variant,,ENST00000477500,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;CYP2E1,intron_variant,,ENST00000541080,;							HIGH	925/1482	R309*	CP2E1_HUMAN			Transcript			.	ENSP00000252945		CCDS7686.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H060228	H060228N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	20	21	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		41			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
ESRRG	0	LGGM	GRCh37	1	216850773	216850773	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	19	15	.	.	ENST00000366937.1:c.132C>T	p.Ile44=	p.I44=	ENST00000366937	NM_001243518.1	44	atC/atT	0	1		UPI00000272E7	0		ENST00000408911		ENSG00000196482	3474		34			HGNC	p.I16I		ESRRG		SNV							ENST00000360012	protein_coding			hmmpanther:PTHR24084,PIRSF_domain:PIRSF500939,PIRSF_domain:PIRSF002527		I		A		271/5216				F1D8R6_HUMAN,F1D8R5_HUMAN,C9JU32_HUMAN,C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN,B7Z5E9_HUMAN				ESRRG,synonymous_variant,p.=,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,synonymous_variant,p.=,ENST00000360012,NM_001243514.1;ESRRG,synonymous_variant,p.=,ENST00000366937,NM_001243518.1;ESRRG,synonymous_variant,p.=,ENST00000361525,NM_206594.2,NM_001243505.1;ESRRG,synonymous_variant,p.=,ENST00000366940,NM_001134285.2;ESRRG,synonymous_variant,p.=,ENST00000493603,;ESRRG,synonymous_variant,p.=,ENST00000366938,NM_001243513.1;ESRRG,synonymous_variant,p.=,ENST00000361395,NM_001243510.1;ESRRG,synonymous_variant,p.=,ENST00000408911,NM_001438.3;ESRRG,synonymous_variant,p.=,ENST00000359162,NM_001243506.1,NM_001243511.1,NM_206595.2;ESRRG,synonymous_variant,p.=,ENST00000463665,NM_001243507.1;ESRRG,synonymous_variant,p.=,ENST00000487276,NM_001243512.1;ESRRG,synonymous_variant,p.=,ENST00000493748,NM_001243509.1;ESRRG,synonymous_variant,p.=,ENST00000475275,;ESRRG,synonymous_variant,p.=,ENST00000481543,;ESRRG,synonymous_variant,p.=,ENST00000469486,;ESRRG,synonymous_variant,p.=,ENST00000459955,;ESRRG,intron_variant,,ENST00000586199,;							LOW	117/1377		ERR3_HUMAN			Transcript			.	ENSP00000386171		CCDS41468.1			1	
AKNAD1	0	LGGM	GRCh37	1	109394573	109394573	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	40	15	.	.	ENST00000370001.3:c.714T>G	p.Thr238=	p.T238=	ENST00000370001	NM_152763.4	238	acT/acG	0	1	1	UPI00004700A0	0		ENST00000370001		ENSG00000162641	28398		55			HGNC	p.T238T		AKNAD1		SNV							ENST00000474186	protein_coding			hmmpanther:PTHR21510:SF14,hmmpanther:PTHR21510		T		C		983/3053							YES	AKNAD1,synonymous_variant,p.=,ENST00000370001,NM_152763.4;AKNAD1,synonymous_variant,p.=,ENST00000369995,;AKNAD1,synonymous_variant,p.=,ENST00000369994,;AKNAD1,intron_variant,,ENST00000357393,;AKNAD1,synonymous_variant,p.=,ENST00000474186,;AKNAD1,synonymous_variant,p.=,ENST00000461774,;AKNAD1,synonymous_variant,p.=,ENST00000472781,;							LOW	714/2511		AKND1_HUMAN			Transcript			.	ENSP00000359018		CCDS791.2			1	
ZNF716	0	LGGM	GRCh37	7	57528701	57528701	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	47	15	.	.	ENST00000420713.1:c.534A>G	p.Arg178=	p.R178=	ENST00000420713	NM_001159279.1	178	agA/agG	0	1	1	UPI00004192FD	0		ENST00000420713		ENSG00000182111	32458		62			HGNC	p.R178R		ZNF716		SNV							ENST00000420713	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,Superfamily_domains:SSF57667		R		G		646/5197							YES	ZNF716,synonymous_variant,p.=,ENST00000420713,NM_001159279.1;							LOW	534/1488		ZN716_HUMAN			Transcript			.	ENSP00000394248		CCDS55112.1			1	
UBASH3B	0	LGGM	GRCh37	11	122650220	122650220	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	26	15	.	.	ENST00000284273.5:c.418G>T	p.Val140Leu	p.V140L	ENST00000284273	NM_032873.4	140	Gtg/Ttg	0	1	1	UPI0000047471	0	NA	ENST00000284273		ENSG00000154127	29884		41	2.22		HGNC	p.V140L		UBASH3B		SNV							ENST00000284273	protein_coding	getma.org/?cm=var&var=hg19,11,122650220,G,T&fts=all		Gene3D:3.90.1140.10,hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24		V/L		T	medium	793/6912		getma.org/?cm=msa&ty=f&p=UBS3B_HUMAN&rb=74&re=259&var=V140L	deleterious(0.03)				YES	UBASH3B,missense_variant,p.Val140Leu,ENST00000284273,NM_032873.4;UBASH3B,non_coding_transcript_exon_variant,,ENST00000526386,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000533451,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000530917,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000529998,;UBASH3B,upstream_gene_variant,,ENST00000526493,;							MODERATE	418/1950	V140L	UBS3B_HUMAN			Transcript		benign(0.003)	.	ENSP00000284273		CCDS31694.1			1	
ANO4	0	LGGM	GRCh37	12	101491481	101491481	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	40	15	.	.	ENST00000392979.3:c.1798G>A	p.Glu600Lys	p.E600K	ENST00000392979	NM_178826.3	600	Gaa/Aaa	0	1		UPI0000577AB6	0	NA	ENST00000392977		ENSG00000151572	23837		55	2.305		HGNC	p.E155K		ANO4		SNV							ENST00000299222	protein_coding	getma.org/?cm=var&var=hg19,12,101491481,G,A&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28		E/K		A	medium	2113/3509		getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=339&re=922&var=E635K	deleterious(0)					ANO4,missense_variant,p.Glu600Lys,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Glu635Lys,ENST00000392977,NM_001286615.1;ANO4,missense_variant,p.Glu155Lys,ENST00000299222,;ANO4,missense_variant,p.Glu155Lys,ENST00000550015,;							MODERATE	1903/2868	E635K	ANO4_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000376703		CCDS66445.1			1	
HNF1A	0	LGGM	GRCh37	12	121437193	121437193	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	33	17	.	.	ENST00000257555.6:c.1623+1G>A		p.X541_splice	ENST00000257555				0	1	1	UPI000013CF6C	0		ENST00000257555		ENSG00000135100	11621		50			HGNC	p.V542I		HNF1A		SNV			1				ENST00000541395	protein_coding							A		-/3442				E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN			YES	HNF1A,splice_donor_variant,,ENST00000257555,;HNF1A,splice_donor_variant,,ENST00000544413,;HNF1A,missense_variant,p.Val542Ile,ENST00000541395,NM_000545.5;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,splice_donor_variant,,ENST00000540108,;HNF1A,splice_donor_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,;							HIGH	1623/1896					Transcript			.	ENSP00000257555		CCDS9209.1			1	
ZNF43	0	LGGM	GRCh37	19	21991706	21991706	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	31	17	.	.	ENST00000354959.4:c.1133C>T	p.Ala378Val	p.A378V	ENST00000354959	NM_003423.3	378	gCt/gTt	0	1	1	UPI00001BD957	0	getma.org/pdb.php?prot=ZNF43_HUMAN&from=356&to=381&var=A378V	ENST00000354959		ENSG00000198521	13109		48	0.25		HGNC	p.A372V		ZNF43		SNV							ENST00000598381	protein_coding	getma.org/?cm=var&var=hg19,19,21991706,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/V		A	neutral	1303/2881		getma.org/?cm=msa&ty=f&p=ZNF43_HUMAN&rb=336&re=401&var=A378V	tolerated(0.06)	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN			YES	ZNF43,missense_variant,p.Ala372Val,ENST00000594012,NM_001256649.1,NM_001256654.1,NM_001256653.1,NM_001256651.1;ZNF43,missense_variant,p.Ala372Val,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Ala372Val,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Ala378Val,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;							MODERATE	1133/2430	A378V	ZNF43_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000347045		CCDS12413.2			1	
GRIK3	0	LGGM	GRCh37	1	37270772	37270772	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	25	17	.	.	ENST00000373091.3:c.2381T>C	p.Ile794Thr	p.I794T	ENST00000373091	NM_000831.3	794	aTc/aCc	0	1	1	UPI000013E311	0	getma.org/pdb.php?prot=GRIK3_HUMAN&from=562&to=832&var=I794T	ENST00000373091		ENSG00000163873	4581		42	1.315		HGNC	p.I794T		GRIK3		SNV							ENST00000373093	protein_coding	getma.org/?cm=var&var=hg19,1,37270772,A,G&fts=all		Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966		I/T		G	low	2398/9101		getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=562&re=832&var=I794T	deleterious(0.05)	Q96SC0_HUMAN			YES	GRIK3,missense_variant,p.Ile794Thr,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Ile794Thr,ENST00000373093,;							MODERATE	2381/2760	I794T	GRIK3_HUMAN			Transcript		benign(0.037)	.	ENSP00000362183		CCDS416.1			1	
DENND4A	0	LGGM	GRCh37	15	65954284	65954284	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	28	18	.	.	ENST00000443035.3:c.5626A>C	p.Thr1876Pro	p.T1876P	ENST00000443035	NM_001144823.1	1876	Aca/Cca	0	1		UPI000013D21C	0	NA	ENST00000431932		ENSG00000174485	24321		46	0.805		HGNC	p.T1833P		DENND4A		SNV							ENST00000431932	protein_coding	getma.org/?cm=var&var=hg19,15,65954284,T,G&fts=all		hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16		T/P		G	low	5706/5875		getma.org/?cm=msa&ty=f&p=MYCPP_HUMAN&rb=1833&re=1863&var=T1833P	tolerated(0.24)	H3BTW5_HUMAN,A8K2M7_HUMAN				DENND4A,missense_variant,p.Thr1876Pro,ENST00000443035,NM_001144823.1;DENND4A,missense_variant,p.Thr1833Pro,ENST00000431932,NM_005848.3;SLC24A1,downstream_gene_variant,,ENST00000537259,;DENND4A,upstream_gene_variant,,ENST00000561863,;DENND4A,non_coding_transcript_exon_variant,,ENST00000562540,;							MODERATE	5497/5592	T1833P	MYCPP_HUMAN			Transcript		benign(0.428)	.	ENSP00000396830		CCDS45285.1			1	
ARRDC3	0	LGGM	GRCh37	5	90672458	90672458	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	24	18	.	.	ENST00000265138.3:c.490A>G	p.Ile164Val	p.I164V	ENST00000265138	NM_020801.2	164	Atc/Gtc	0	1	1	UPI000006F2E2	0	NA	ENST00000265138		ENSG00000113369	29263		42	1.68		HGNC	p.I164V		ARRDC3		SNV							ENST00000265138	protein_coding	getma.org/?cm=var&var=hg19,5,90672458,T,C&fts=all		Pfam_domain:PF00339,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF49,Superfamily_domains:SSF81296		I/V		C	low	757/4188		getma.org/?cm=msa&ty=f&p=ARRD3_HUMAN&rb=9&re=165&var=I164V	tolerated(0.57)				YES	ARRDC3,missense_variant,p.Ile164Val,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,;							MODERATE	490/1245	I164V	ARRD3_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000265138		CCDS34202.1			1	
DENND4A	0	LGGM	GRCh37	15	65954285	65954285	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	28	18	.	.	ENST00000443035.3:c.5625C>T	p.Leu1875=	p.L1875=	ENST00000443035	NM_001144823.1	1875	ctC/ctT	0	1		UPI000013D21C	0		ENST00000431932		ENSG00000174485	24321		46			HGNC	p.L1832L		DENND4A		SNV							ENST00000431932	protein_coding			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16		L		A		5705/5875				H3BTW5_HUMAN,A8K2M7_HUMAN				DENND4A,synonymous_variant,p.=,ENST00000443035,NM_001144823.1;DENND4A,synonymous_variant,p.=,ENST00000431932,NM_005848.3;SLC24A1,downstream_gene_variant,,ENST00000537259,;DENND4A,upstream_gene_variant,,ENST00000561863,;DENND4A,non_coding_transcript_exon_variant,,ENST00000562540,;							LOW	5496/5592		MYCPP_HUMAN			Transcript			.	ENSP00000396830		CCDS45285.1			1	
HS3ST5	0	LGGM	GRCh37	6	114378531	114378531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	29	18	.	.	ENST00000312719.5:c.931C>A	p.Arg311Ser	p.R311S	ENST00000312719		311	Cgc/Agc	0	1	1	UPI00000740A8	0	getma.org/pdb.php?prot=HS3S5_HUMAN&from=90&to=339&var=R311S	ENST00000312719		ENSG00000249853	19419		47	3.285		HGNC	p.R311S	rs751584987,COSM1544652	HS3ST5	6.07E-05	SNV						0,1	ENST00000411826	protein_coding	getma.org/?cm=var&var=hg19,6,114378531,G,T&fts=all		hmmpanther:PTHR10605:SF33,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		R/S		T	medium	2120/3901		getma.org/?cm=msa&ty=f&p=HS3S5_HUMAN&rb=90&re=339&var=R311S	deleterious(0)				YES	HS3ST5,missense_variant,p.Arg311Ser,ENST00000312719,;HS3ST5,missense_variant,p.Arg311Ser,ENST00000411826,NM_153612.3;RP3-399L15.3,intron_variant,,ENST00000519104,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;					0,1		MODERATE	931/1041	R311S	HS3S5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000427888	8.24E-06	CCDS34517.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103106544	103106544	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	62	19	.	.	ENST00000398093.3:c.9709+2T>A		p.X3237_splice	ENST00000398093				0	1		UPI0000418CA2	0		ENST00000375735		ENSG00000187240	2962		81			HGNC	-		DYNC2H1		SNV			1				ENST00000375735	protein_coding							A		-/13678								DYNC2H1,splice_donor_variant,,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,splice_donor_variant,,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;							HIGH	9709/12924		DYHC2_HUMAN			Transcript			.	ENSP00000364887		CCDS53701.1			1	
C1orf68	0	LGGM	GRCh37	1	152692233	152692233	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	209	19	.	.	ENST00000368775.2:c.236T>C	p.Val79Ala	p.V79A	ENST00000368775	NM_001024679.2	79	gTg/gCg	0	1	1	UPI00001C1D9F	0	NA	ENST00000368775		ENSG00000198854	29468		228	1.75		HGNC	p.V79A		C1orf68		SNV							ENST00000362017	protein_coding	getma.org/?cm=var&var=hg19,1,152692233,T,C&fts=all		hmmpanther:PTHR23263:SF4,hmmpanther:PTHR23263		V/A		C	low	236/908		getma.org/?cm=msa&ty=f&p=XP32_HUMAN&rb=1&re=200&var=V79A	deleterious(0.03)				YES	C1orf68,missense_variant,p.Val79Ala,ENST00000368775,NM_001024679.2;							MODERATE	236/753	V79A	XP32_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000357764		CCDS44226.1			1	
HCN3	0	LGGM	GRCh37	1	155258195	155258195	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	12	19	.	.	ENST00000368358.3:c.2266del	p.Arg756GlyfsTer28	p.R756Gfs*28	ENST00000368358	NM_020897.2	756	Agg/gg	0	1	1	UPI00000559A6	0		ENST00000368358		ENSG00000143630	19183		31			HGNC	p.R756fs		HCN3		deletion							ENST00000368358	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF374		R/X		-		2274/3718							YES	HCN3,frameshift_variant,p.Arg756GlyfsTer28,ENST00000368358,NM_020897.2;PKLR,downstream_gene_variant,,ENST00000392414,NM_181871.3;PKLR,downstream_gene_variant,,ENST00000342741,NM_000298.5;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000467204,;HCN3,upstream_gene_variant,,ENST00000492035,;							HIGH	2266/2325		HCN3_HUMAN			Transcript			.	ENSP00000357342		CCDS1108.1			1	
KIAA1024	0	LGGM	GRCh37	15	79750686	79750686	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	48	20	.	.	ENST00000305428.3:c.2197T>C	p.Trp733Arg	p.W733R	ENST00000305428	NM_015206.2	733	Tgg/Cgg	0	1	1	UPI00001B2F56	0	NA	ENST00000305428		ENSG00000169330	29172		68	2.175		HGNC	p.W733R		KIAA1024		SNV							ENST00000559272	protein_coding	getma.org/?cm=var&var=hg19,15,79750686,T,C&fts=all		hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2		W/R		C	medium	2272/6732		getma.org/?cm=msa&ty=f&p=K1024_HUMAN&rb=1&re=757&var=W733R	deleterious(0)				YES	KIAA1024,missense_variant,p.Trp733Arg,ENST00000305428,NM_015206.2;KIAA1024,missense_variant,p.Trp733Arg,ENST00000559272,;							MODERATE	2197/2751	W733R	K1024_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000307461		CCDS32306.1			1	
METTL6	0	LGGM	GRCh37	3	15457338	15457338	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	71	20	.	.	ENST00000443029.1:c.472T>C	p.Phe158Leu	p.F158L	ENST00000443029		158	Ttt/Ctt	0	1		UPI000020ABF4	0	getma.org/pdb.php?prot=METL6_HUMAN&from=84&to=183&var=F158L	ENST00000383790		ENSG00000206562	28343		91	2.655		HGNC	p.F158L		METTL6		SNV							ENST00000383790	protein_coding	getma.org/?cm=var&var=hg19,3,15457338,A,G&fts=all		hmmpanther:PTHR22809:SF6,hmmpanther:PTHR22809,Gene3D:3.40.50.150,Pfam_domain:PF08242,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335		F/L		G	medium	713/1335		getma.org/?cm=msa&ty=f&p=METL6_HUMAN&rb=84&re=183&var=F158L	deleterious(0)					METTL6,missense_variant,p.Phe158Leu,ENST00000443029,;METTL6,missense_variant,p.Phe158Leu,ENST00000383789,;METTL6,missense_variant,p.Phe158Leu,ENST00000383790,NM_152396.2;METTL6,missense_variant,p.Phe113Leu,ENST00000450816,;METTL6,missense_variant,p.Phe113Leu,ENST00000598878,;METTL6,missense_variant,p.Phe65Leu,ENST00000453819,;METTL6,missense_variant,p.Phe27Leu,ENST00000458728,;METTL6,non_coding_transcript_exon_variant,,ENST00000489881,;METTL6,non_coding_transcript_exon_variant,,ENST00000485131,;							MODERATE	472/855	F158L	METL6_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000373300		CCDS43056.1			1	
LPHN2	0	LGGM	GRCh37	1	82433716	82433716	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	27	21	.	.	ENST00000319517.6:c.2305A>T	p.Asn769Tyr	p.N769Y	ENST00000319517	NM_012302.2	769	Aat/Tat	0	1		UPI0000458983	0	getma.org/pdb.php?prot=LPHN2_HUMAN&from=762&to=783&var=N782Y	ENST00000370717		ENSG00000117114	18582		48	2.8		HGNC	p.N782Y		LPHN2		SNV							ENST00000370717	protein_coding	getma.org/?cm=var&var=hg19,1,82433716,A,T&fts=all		hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011		N/Y		T	medium	2560/5918		getma.org/?cm=msa&ty=f&p=LPHN2_HUMAN&rb=732&re=813&var=N782Y	deleterious(0)	Q9UJ49_HUMAN				LPHN2,missense_variant,p.Asn782Tyr,ENST00000370728,;LPHN2,missense_variant,p.Asn782Tyr,ENST00000370730,;LPHN2,missense_variant,p.Asn782Tyr,ENST00000370717,;LPHN2,missense_variant,p.Asn769Tyr,ENST00000394879,;LPHN2,missense_variant,p.Asn782Tyr,ENST00000271029,;LPHN2,missense_variant,p.Asn782Tyr,ENST00000335786,;LPHN2,missense_variant,p.Asn769Tyr,ENST00000370715,;LPHN2,missense_variant,p.Asn769Tyr,ENST00000319517,NM_012302.2;LPHN2,missense_variant,p.Asn769Tyr,ENST00000370713,;LPHN2,missense_variant,p.Asn782Tyr,ENST00000370725,;LPHN2,missense_variant,p.Asn769Tyr,ENST00000370723,;LPHN2,missense_variant,p.Asn782Tyr,ENST00000370727,;LPHN2,missense_variant,p.Asn707Tyr,ENST00000370721,;LPHN2,missense_variant,p.Asn769Tyr,ENST00000359929,;LPHN2,missense_variant,p.Asn650Tyr,ENST00000449420,;LPHN2,intron_variant,,ENST00000469377,;LPHN2,downstream_gene_variant,,ENST00000468283,;							MODERATE	2344/4425	N782Y	LPHN2_HUMAN			Transcript		possibly_damaging(0.586)	.	ENSP00000359752					1	
PSKH2	0	LGGM	GRCh37	8	87076759	87076759	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	58	22	.	.	ENST00000276616.2:c.287C>A	p.Thr96Asn	p.T96N	ENST00000276616	NM_033126.1	96	aCc/aAc	0	1	1	UPI000006F951	0	getma.org/pdb.php?prot=KPSH2_HUMAN&from=63&to=320&var=T96N	ENST00000276616		ENSG00000147613	18997		80	0.28		HGNC	p.T96N		PSKH2		SNV							ENST00000276616	protein_coding	getma.org/?cm=var&var=hg19,8,87076759,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF135,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112		T/N		T	neutral	362/1322		getma.org/?cm=msa&ty=f&p=KPSH2_HUMAN&rb=63&re=320&var=T96N	deleterious(0.02)				YES	PSKH2,missense_variant,p.Thr96Asn,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,non_coding_transcript_exon_variant,,ENST00000517981,;PSKH2,non_coding_transcript_exon_variant,,ENST00000523010,;							MODERATE	287/1158	T96N	KPSH2_HUMAN			Transcript		benign(0.411)	.	ENSP00000276616		CCDS6240.1			1	
CACNA2D3	0	LGGM	GRCh37	3	54922003	54922003	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	54	22	.	.	ENST00000474759.1:c.2074C>T	p.Gln692Ter	p.Q692*	ENST00000474759	NM_018398.2	692	Caa/Taa	0	1		UPI000004A7BF	0	NA	ENST00000288197		ENSG00000157445	15460		76	0		HGNC	p.Q598X		CACNA2D3		SNV							ENST00000490478	protein_coding	getma.org/?cm=var&var=hg19,3,54922003,C,T&fts=all		hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166		Q/*		T	NA	2122/3671		NA		C9JAV5_HUMAN				CACNA2D3,stop_gained,p.Gln692Ter,ENST00000474759,NM_018398.2;CACNA2D3,stop_gained,p.Gln692Ter,ENST00000288197,;CACNA2D3,stop_gained,p.Gln692Ter,ENST00000415676,;CACNA2D3,stop_gained,p.Gln598Ter,ENST00000490478,;CACNA2D3-AS1,intron_variant,,ENST00000471265,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;CACNA2D3,3_prime_UTR_variant,,ENST00000477024,;CACNA2D3,downstream_gene_variant,,ENST00000468658,;							HIGH	2074/3276	Q692*	CA2D3_HUMAN			Transcript			.	ENSP00000288197					1	
KMT2C	0	LGGM	GRCh37	7	151864264	151864264	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	40	23	.	.	ENST00000262189.6:c.9717A>T	p.Glu3239Asp	p.E3239D	ENST00000262189	NM_170606.2	3239	gaA/gaT	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		63	1.995		HGNC	p.E3239D		KMT2C		SNV							ENST00000355193	protein_coding	getma.org/?cm=var&var=hg19,7,151864264,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305		E/D		A	medium	9936/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=3236&re=4394&var=E3239D		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Glu3239Asp,ENST00000355193,;KMT2C,missense_variant,p.Glu3239Asp,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Glu745Asp,ENST00000360104,;KMT2C,upstream_gene_variant,,ENST00000424877,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;							MODERATE	9717/14736	E3239D	KMT2C_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000262189		CCDS5931.1			1	
BUB1B	0	LGGM	GRCh37	15	40494821	40494821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	88	24	.	.	ENST00000287598.6:c.1660C>A	p.Gln554Lys	p.Q554K	ENST00000287598	NM_001211.5	554	Caa/Aaa	0	1	1	UPI000006E699	0	NA	ENST00000287598		ENSG00000156970	1149		112	1.87		HGNC	p.Q568K		BUB1B		SNV			1				ENST00000412359	protein_coding	getma.org/?cm=var&var=hg19,15,40494821,C,A&fts=all		hmmpanther:PTHR14030,hmmpanther:PTHR14030:SF1		Q/K		A	low	1855/3725		getma.org/?cm=msa&ty=f&p=BUB1B_HUMAN&rb=380&re=579&var=Q554K	tolerated(0.37)				YES	BUB1B,missense_variant,p.Gln554Lys,ENST00000287598,NM_001211.5;BUB1B,missense_variant,p.Gln568Lys,ENST00000412359,;BUB1B,3_prime_UTR_variant,,ENST00000559733,;BUB1B,non_coding_transcript_exon_variant,,ENST00000558972,;BUB1B,downstream_gene_variant,,ENST00000559772,;							MODERATE	1660/3153	Q554K	BUB1B_HUMAN			Transcript		benign(0.071)	.	ENSP00000287598		CCDS10053.1			1	
MUC16	0	LGGM	GRCh37	19	8999528	8999528	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	53	24	.	.	ENST00000397910.4:c.40647C>T	p.Ala13549=	p.A13549=	ENST00000397910	NM_024690.2	13549	gcC/gcT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		77			HGNC	p.A190A	rs773173867	MUC16		SNV				0.000103			ENST00000380951	protein_coding			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		A		A		40851/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	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,;							LOW	40647/43524					Transcript			.	ENSP00000381008	8.27E-06	CCDS54212.1			1	
EFR3A	0	LGGM	GRCh37	8	132982784	132982784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	96	24	.	.	ENST00000254624.5:c.1053C>A	p.Phe351Leu	p.F351L	ENST00000254624	NM_015137.4	351	ttC/ttA	0	1	1	UPI00001C1E8F	0	NA	ENST00000254624		ENSG00000132294	28970		120	0.635		HGNC	p.F351L		EFR3A		SNV							ENST00000334503	protein_coding	getma.org/?cm=var&var=hg19,8,132982784,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1		F/L		A	neutral	1278/5438		getma.org/?cm=msa&ty=f&p=EFR3A_HUMAN&rb=2&re=819&var=F351L	tolerated(0.25)	E5RJS1_HUMAN,B4DZ89_HUMAN			YES	EFR3A,missense_variant,p.Phe351Leu,ENST00000254624,NM_015137.4;EFR3A,missense_variant,p.Phe315Leu,ENST00000519656,;EFR3A,missense_variant,p.Phe351Leu,ENST00000334503,;							MODERATE	1053/2466	F351L	EFR3A_HUMAN			Transcript		benign(0.001)	.	ENSP00000254624		CCDS34942.2			1	
GPR98	0	LGGM	GRCh37	5	89986748	89986748	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	32	25	.	.	ENST00000405460.2:c.6841G>C	p.Ala2281Pro	p.A2281P	ENST00000405460	NM_032119.3	2281	Gct/Cct	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=2207&to=2406&var=A2281P	ENST00000405460		ENSG00000164199	17416		57	2.06		HGNC	p.A2281P		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89986748,G,C&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072		A/P		C	medium	6937/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2207&re=2406&var=A2281P					YES	GPR98,missense_variant,p.Ala2281Pro,ENST00000405460,NM_032119.3;GPR98,upstream_gene_variant,,ENST00000509621,;							MODERATE	6841/18921	A2281P	GPR98_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000384582		CCDS47246.1			1	
TRAV14DV4	0	LGGM	GRCh37	14	22392712	22392712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	51	25	.	.	ENST00000390440.2:c.235G>T	p.Ala79Ser	p.A79S	ENST00000390440		79	Gca/Tca	0	1	1	UPI000011C70F	0		ENST00000390440		ENSG00000211792	12110		76			HGNC	p.A79S		TRAV14DV4		SNV							ENST00000390440	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF6,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		A/S		T		310/425				A0JD09_HUMAN			YES	TRAV14DV4,missense_variant,p.Ala79Ser,ENST00000390440,;							MODERATE	235/350					Transcript			.	ENSP00000446015					1	
TP53	0	LGGM	GRCh37	17	7579592	7579592	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	29	26	.	.	ENST00000269305.4:c.97-2A>C		p.X33_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		55			HGNC	-		TP53		SNV			1				ENST00000413465	protein_coding							G		-/2579				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			YES	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,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000604348,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;							HIGH	97/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
TRPM1	0	LGGM	GRCh37	15	31294924	31294924	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	26	26	.	.	ENST00000542188.1:c.4030C>A	p.Arg1344Ser	p.R1344S	ENST00000542188	NM_001252020.1	1344	Cgt/Agt	0	1		UPI00001FE144	0	NA	ENST00000397795		ENSG00000134160	7146		52	0.805		HGNC	p.R1327S		TRPM1		SNV			1				ENST00000256552	protein_coding	getma.org/?cm=var&var=hg19,15,31294924,G,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13		R/S		T	low	4027/5687		getma.org/?cm=msa&ty=f&p=TRPM1_HUMAN&rb=1276&re=1475&var=R1305S	tolerated(0.38)	H0YKU7_HUMAN				TRPM1,missense_variant,p.Arg1344Ser,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Arg1305Ser,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Arg1327Ser,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Arg1229Ser,ENST00000558768,;TRPM1,missense_variant,p.Arg1305Ser,ENST00000558445,;TRPM1,missense_variant,p.Arg420Ser,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;							MODERATE	3913/4812	R1305S	TRPM1_HUMAN			Transcript		benign(0.09)	.	ENSP00000380897		CCDS10024.2			1	
THEMIS	0	LGGM	GRCh37	6	128150819	128150819	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	53	26	.	.	ENST00000543064.1:c.511G>A	p.Gly171Arg	p.G171R	ENST00000543064	NM_001164685.1	171	Gga/Aga	0	1		UPI00001C1E44	0	NA	ENST00000368248		ENSG00000172673	21569		79	2.495		HGNC	p.G92R	COSM3620266,COSM3620265	THEMIS		SNV						1,1	ENST00000368250	protein_coding	getma.org/?cm=var&var=hg19,6,128150819,C,T&fts=all		Pfam_domain:PF12736,hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1		G/R		T	medium	660/3866		getma.org/?cm=msa&ty=f&p=THMS1_HUMAN&rb=17&re=271&var=G171R	deleterious(0)					THEMIS,missense_variant,p.Gly92Arg,ENST00000368250,;THEMIS,missense_variant,p.Gly171Arg,ENST00000543064,NM_001164685.1;THEMIS,missense_variant,p.Gly171Arg,ENST00000368248,NM_001010923.2;THEMIS,missense_variant,p.Gly136Arg,ENST00000537166,NM_001164687.1;THEMIS,intron_variant,,ENST00000434358,;					1,1		MODERATE	511/1926	G171R	THMS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357231		CCDS34534.1			1	
ACIN1	0	LGGM	GRCh37	14	23549118	23549118	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	48	26	.	.	ENST00000262710.1:c.1600G>T	p.Glu534Ter	p.E534*	ENST00000262710	NM_001164814.1	534	Gag/Tag	0	1	1	UPI000013D308	0	NA	ENST00000262710		ENSG00000100813	17066		74	0		HGNC	p.E534X		ACIN1		SNV							ENST00000262710	protein_coding	getma.org/?cm=var&var=hg19,14,23549118,C,A&fts=all		hmmpanther:PTHR14127		E/*		A	NA	1928/4935		NA		S4R3H4_HUMAN			YES	ACIN1,stop_gained,p.Glu534Ter,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,stop_gained,p.Glu494Ter,ENST00000457657,NM_001164815.1;ACIN1,stop_gained,p.Glu476Ter,ENST00000605057,;ACIN1,stop_gained,p.Glu534Ter,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000555352,;ACIN1,upstream_gene_variant,,ENST00000554708,;							HIGH	1600/4026	E534*	ACINU_HUMAN			Transcript			.	ENSP00000262710		CCDS9587.1			1	
ZFHX3	0	LGGM	GRCh37	16	72827346	72827346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	24	28	.	.	ENST00000268489.5:c.9235C>A	p.Gln3079Lys	p.Q3079K	ENST00000268489	NM_006885.3	3079	Caa/Aaa	0	1	1	UPI00001AE937	0	NA	ENST00000268489		ENSG00000140836	777		52	1.79		HGNC	p.Q3079K		ZFHX3		SNV							ENST00000268489	protein_coding	getma.org/?cm=var&var=hg19,16,72827346,G,T&fts=all		hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208		Q/K		T	low	9908/16064		getma.org/?cm=msa&ty=f&p=ZFHX3_HUMAN&rb=3022&re=3701&var=Q3079K		Q6TCJ2_HUMAN			YES	ZFHX3,missense_variant,p.Gln3079Lys,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Gln2165Lys,ENST00000397992,NM_001164766.1;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;							MODERATE	9235/11112	Q3079K	ZFHX3_HUMAN			Transcript		unknown(0)	.	ENSP00000268489		CCDS10908.1			1	
ZFHX4	0	LGGM	GRCh37	8	77766952	77766952	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	93	28	.	.	ENST00000521891.2:c.7795G>A	p.Gly2599Ser	p.G2599S	ENST00000521891	NM_024721.4	2599	Ggt/Agt	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		121	0.625		HGNC	p.G2599S	rs373737718,COSM1314210	ZFHX4		SNV	A:0					0,1	ENST00000521891	protein_coding	getma.org/?cm=var&var=hg19,8,77766952,G,A&fts=all		Gene3D:1.10.10.60,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Superfamily_domains:SSF46689		G/S	A:0.0001	A	neutral	8243/14019	1.51E-05	getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=2531&re=2560&var=G2554S		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Gly2599Ser,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gly2554Ser,ENST00000455469,;ZFHX4,missense_variant,p.Gly2573Ser,ENST00000518282,;ZFHX4,missense_variant,p.Gly2554Ser,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000522409,;					0,1		MODERATE	7795/10851	G2554S				Transcript		probably_damaging(0.997)	.	ENSP00000430497	8.27E-06	CCDS47878.2			1	
TNFRSF11A	0	LGGM	GRCh37	18	60017123	60017123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	64	29	.	.	ENST00000586569.1:c.236G>A	p.Ser79Asn	p.S79N	ENST00000586569	NM_001278268.1	79	aGc/aAc	0	1	1	UPI000003BC8A	0	getma.org/pdb.php?prot=TNR11_HUMAN&from=69&to=214&var=S79N	ENST00000586569		ENSG00000141655	11908		93	0.835		HGNC	p.S79N		TNFRSF11A		SNV			1				ENST00000586569	protein_coding	getma.org/?cm=var&var=hg19,18,60017123,G,A&fts=all		Gene3D:2.10.50.10,Prints_domain:PR01961,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF29,SMART_domains:SM00208,Superfamily_domains:SSF57586		S/N		A	low	274/8138		getma.org/?cm=msa&ty=f&p=TNR11_HUMAN&rb=69&re=214&var=S79N	deleterious(0.02)	N0GVH0_HUMAN			YES	TNFRSF11A,missense_variant,p.Ser79Asn,ENST00000586569,NM_001278268.1,NM_003839.3,NM_001270949.1;TNFRSF11A,missense_variant,p.Ser79Asn,ENST00000269485,NM_001270951.1,NM_001270950.1;							MODERATE	236/1851	S79N	TNR11_HUMAN			Transcript		benign(0.021)	.	ENSP00000465500		CCDS11980.1			1	
TFRC	0	LGGM	GRCh37	3	195782016	195782016	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	79	29	.	.	ENST00000360110.4:c.1834G>T	p.Glu612Ter	p.E612*	ENST00000360110	NM_001128148.1	612	Gag/Tag	0	1	1	UPI0000049ADE	0	NA	ENST00000360110		ENSG00000072274	11763		108	0		HGNC	p.E531X		TFRC		SNV							ENST00000420415	protein_coding	getma.org/?cm=var&var=hg19,3,195782016,C,A&fts=all		Gene3D:3.40.630.10,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26,Superfamily_domains:SSF47672		E/*		A	NA	2004/5111		NA		G3V0E5_HUMAN,F5H6B1_HUMAN			YES	TFRC,stop_gained,p.Glu612Ter,ENST00000360110,NM_001128148.1;TFRC,stop_gained,p.Glu612Ter,ENST00000392396,NM_003234.2;TFRC,stop_gained,p.Glu531Ter,ENST00000420415,;TFRC,stop_gained,p.Glu330Ter,ENST00000535031,;TFRC,stop_gained,p.Glu24Ter,ENST00000426789,;TFRC,3_prime_UTR_variant,,ENST00000540528,;TFRC,downstream_gene_variant,,ENST00000465288,;TFRC,downstream_gene_variant,,ENST00000463356,;TFRC,non_coding_transcript_exon_variant,,ENST00000475593,;TFRC,non_coding_transcript_exon_variant,,ENST00000483983,;TFRC,non_coding_transcript_exon_variant,,ENST00000463047,;TFRC,downstream_gene_variant,,ENST00000477148,;TFRC,downstream_gene_variant,,ENST00000482479,;							HIGH	1834/2283	E612*	TFR1_HUMAN			Transcript			.	ENSP00000353224		CCDS3312.1			1	
RAP1GAP2	0	LGGM	GRCh37	17	2861074	2861074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	34	32	.	.	ENST00000254695.8:c.187C>A	p.Leu63Met	p.L63M	ENST00000254695	NM_015085.4	63	Ctg/Atg	0	1	1	UPI0000D622A3	0	NA	ENST00000254695		ENSG00000132359	29176		66	1.845		HGNC	p.L63M		RAP1GAP2		SNV							ENST00000366401	protein_coding	getma.org/?cm=var&var=hg19,17,2861074,C,A&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF17		L/M		A	low	277/6661		getma.org/?cm=msa&ty=f&p=RPGP2_HUMAN&rb=1&re=200&var=L63M	tolerated(0.19)				YES	RAP1GAP2,missense_variant,p.Leu63Met,ENST00000254695,NM_015085.4;RAP1GAP2,missense_variant,p.Leu63Met,ENST00000366401,NM_001100398.1;RAP1GAP2,missense_variant,p.Leu44Met,ENST00000540393,;RAP1GAP2,missense_variant,p.Leu63Met,ENST00000542807,;CTD-3060P21.1,downstream_gene_variant,,ENST00000574885,;							MODERATE	187/2193	L63M	RPGP2_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000254695		CCDS45573.1			1	
ANGPT1	0	LGGM	GRCh37	8	108334238	108334238	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	35	35	.	.	ENST00000517746.1:c.694G>T	p.Glu232Ter	p.E232*	ENST00000517746	NM_001199859.1	232	Gag/Tag	0	1	1	UPI0000034766	0	NA	ENST00000517746		ENSG00000154188	484		70	0		HGNC	p.E232X		ANGPT1		SNV							ENST00000517746	protein_coding	getma.org/?cm=var&var=hg19,8,108334238,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF156		E/*		A	NA	1146/4311		NA		E5RFF4_HUMAN,B4E3G9_HUMAN,B4DTQ9_HUMAN			YES	ANGPT1,stop_gained,p.Glu232Ter,ENST00000297450,;ANGPT1,stop_gained,p.Glu232Ter,ENST00000517746,NM_001199859.1,NM_001146.3;ANGPT1,stop_gained,p.Glu32Ter,ENST00000520734,;ANGPT1,stop_gained,p.Glu32Ter,ENST00000520052,;ANGPT1,upstream_gene_variant,,ENST00000518386,;ANGPT1,upstream_gene_variant,,ENST00000521950,;							HIGH	694/1497	E232*	ANGP1_HUMAN			Transcript			.	ENSP00000428340		CCDS6306.1			1	
PRR14L	0	LGGM	GRCh37	22	32108989	32108989	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	94	35	.	.	ENST00000327423.6:c.4836A>G	p.Glu1612=	p.E1612=	ENST00000327423	NM_173566.2	1612	gaA/gaG	0	1	1	UPI0000207582	0		ENST00000327423		ENSG00000183530	28738		129			HGNC	p.E1612E		PRR14L		SNV							ENST00000327423	protein_coding			hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		E		C		5026/10826				C9J9V0_HUMAN			YES	PRR14L,synonymous_variant,p.=,ENST00000327423,NM_173566.2;PRR14L,synonymous_variant,p.=,ENST00000434485,;PRR14L,synonymous_variant,p.=,ENST00000397493,;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,synonymous_variant,p.=,ENST00000431684,;							LOW	4836/6456		PR14L_HUMAN			Transcript			.	ENSP00000331845		CCDS13900.2			1	
SUN1	0	LGGM	GRCh37	7	888141	888141	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	102	36	.	.	ENST00000401592.1:c.659-2880C>A		*220*	ENST00000401592	NM_001130965.2			0	1	1	UPI000020E965	0		ENST00000401592		ENSG00000164828	18587		138			HGNC	p.Q307K		SUN1		SNV							ENST00000456758	protein_coding							A		-/3953				Q5S4N2_HUMAN,C9K051_HUMAN,C9JS54_HUMAN,C9JR15_HUMAN,C9JK55_HUMAN,C9JJU6_HUMAN			YES	SUN1,missense_variant,p.Gln307Lys,ENST00000456758,;SUN1,missense_variant,p.Gln80Lys,ENST00000429178,;SUN1,5_prime_UTR_variant,,ENST00000413514,;SUN1,intron_variant,,ENST00000405266,;SUN1,intron_variant,,ENST00000401592,NM_001130965.2;SUN1,intron_variant,,ENST00000425407,;SUN1,intron_variant,,ENST00000389574,NM_025154.5;SUN1,intron_variant,,ENST00000452783,NM_001171944.1;SUN1,intron_variant,,ENST00000450881,;SUN1,intron_variant,,ENST00000419312,;SUN1,upstream_gene_variant,,ENST00000433212,;SUN1,downstream_gene_variant,,ENST00000457378,NM_001171945.1;SUN1,downstream_gene_variant,,ENST00000403868,NM_001171946.1;SUN1,non_coding_transcript_exon_variant,,ENST00000413171,;SUN1,non_coding_transcript_exon_variant,,ENST00000340926,;SUN1,upstream_gene_variant,,ENST00000475971,;SUN1,upstream_gene_variant,,ENST00000457861,;SUN1,downstream_gene_variant,,ENST00000467483,;SUN1,upstream_gene_variant,,ENST00000480475,;SUN1,upstream_gene_variant,,ENST00000463848,;SUN1,upstream_gene_variant,,ENST00000488628,;SUN1,upstream_gene_variant,,ENST00000464442,;SUN1,downstream_gene_variant,,ENST00000477950,;SUN1,downstream_gene_variant,,ENST00000471349,;SUN1,upstream_gene_variant,,ENST00000459810,;SUN1,downstream_gene_variant,,ENST00000493681,;							MODIFIER	-/2358		SUN1_HUMAN			Transcript			.	ENSP00000384015		CCDS47525.1			1	
FAT1	0	LGGM	GRCh37	4	187628210	187628210	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	120	38	.	.	ENST00000441802.2:c.2772A>T	p.Pro924=	p.P924=	ENST00000441802	NM_005245.3	924	ccA/ccT	0	1	1	UPI000051946B	0		ENST00000441802		ENSG00000083857	3595		158			HGNC	p.P924P		FAT1		SNV							ENST00000441802	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		P		A		2982/14786				D6RCE4_HUMAN			YES	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;FAT1,downstream_gene_variant,,ENST00000509647,;							LOW	2772/13767		FAT1_HUMAN			Transcript			.	ENSP00000406229		CCDS47177.1			1	
OR4K5	0	LGGM	GRCh37	14	20389420	20389420	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	104	40	.	.	ENST00000315915.4:c.655A>T	p.Ile219Phe	p.I219F	ENST00000315915	NM_001005483.1	219	Atc/Ttc	0	1	1	UPI0000061E9E	0	NA	ENST00000315915		ENSG00000176281	14745		144	2.025		HGNC	p.I219F		OR4K5		SNV							ENST00000315915	protein_coding	getma.org/?cm=var&var=hg19,14,20389420,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/F		T	medium	680/1078		getma.org/?cm=msa&ty=f&p=OR4K5_HUMAN&rb=139&re=280&var=I219F	deleterious(0)				YES	OR4K5,missense_variant,p.Ile219Phe,ENST00000315915,NM_001005483.1;							MODERATE	655/972	I219F	OR4K5_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000319511		CCDS32024.1			1	
COL9A1	0	LGGM	GRCh37	6	71004015	71004015	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	70	41	.	.	ENST00000357250.6:c.551T>C	p.Met184Thr	p.M184T	ENST00000357250	NM_001851.4	184	aTg/aCg	0	1	1	UPI000020D14B	0	getma.org/pdb.php?prot=CO9A1_HUMAN&from=122&to=234&var=M184T	ENST00000357250		ENSG00000112280	2217		111	2.32		HGNC	p.M184T		COL9A1		SNV			1				ENST00000370496	protein_coding	getma.org/?cm=var&var=hg19,6,71004015,A,G&fts=all		Gene3D:2.60.120.200,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454,SMART_domains:SM00210,Superfamily_domains:SSF49899		M/T		G	medium	710/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=122&re=234&var=M184T					YES	COL9A1,missense_variant,p.Met184Thr,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Met184Thr,ENST00000370496,;							MODERATE	551/2766	M184T	CO9A1_HUMAN			Transcript		unknown(0)	.	ENSP00000349790		CCDS4971.1			1	
NRXN1	0	LGGM	GRCh37	2	50850727	50850727	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	53	44	.	.	ENST00000404971.1:c.958A>G	p.Lys320Glu	p.K320E	ENST00000404971	NM_001135659.1	320	Aaa/Gaa	0	1		UPI0000130A9D	0	getma.org/pdb.php?prot=NRX1A_HUMAN&from=283&to=473&var=K287E	ENST00000406316		ENSG00000179915	8008		97	1.735		HGNC	p.K287E		NRXN1		SNV			1				ENST00000401669	protein_coding	getma.org/?cm=var&var=hg19,2,50850727,T,C&fts=all		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Superfamily_domains:SSF49899		K/E		C	low	2336/7505		getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=283&re=473&var=K287E	deleterious(0.01)	Q08AH0_HUMAN				NRXN1,missense_variant,p.Lys320Glu,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Lys287Glu,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Lys287Glu,ENST00000401669,;NRXN1,missense_variant,p.Lys287Glu,ENST00000405472,;NRXN1,missense_variant,p.Lys287Glu,ENST00000402717,;NRXN1,missense_variant,p.Lys287Glu,ENST00000406859,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,upstream_gene_variant,,ENST00000495871,;							MODERATE	859/4434	K287E	NRX1A_HUMAN			Transcript		benign(0)	.	ENSP00000384311		CCDS54360.1			1	
PCM1	0	LGGM	GRCh37	8	17814799	17814799	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060228	H060228N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	52	47	.	.	ENST00000325083.8:c.1673A>G	p.Asn558Ser	p.N558S	ENST00000325083	NM_006197.3	558	aAt/aGt	0	1	1	UPI0000210A25	0	NA	ENST00000325083		ENSG00000078674	8727		99	0		HGNC	p.N597S		PCM1		SNV			1				ENST00000517730	protein_coding	getma.org/?cm=var&var=hg19,8,17814799,A,G&fts=all		hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12		N/S		G	neutral	2112/6820		getma.org/?cm=msa&ty=f&p=PCM1_HUMAN&rb=355&re=974&var=N558S	tolerated(0.99)	E5RGQ4_HUMAN			YES	PCM1,missense_variant,p.Asn558Ser,ENST00000325083,NM_006197.3;PCM1,missense_variant,p.Asn558Ser,ENST00000519253,;PCM1,missense_variant,p.Asn558Ser,ENST00000524226,;PCM1,missense_variant,p.Asn597Ser,ENST00000517730,;PCM1,downstream_gene_variant,,ENST00000518537,;PCM1,downstream_gene_variant,,ENST00000523055,;PCM1,downstream_gene_variant,,ENST00000518930,;PCM1,upstream_gene_variant,,ENST00000518762,;PCM1,upstream_gene_variant,,ENST00000517836,;							MODERATE	1673/6075	N558S	PCM1_HUMAN			Transcript		benign(0.003)	.	ENSP00000327077		CCDS47812.1			1	
PRUNE	0	LGGM	GRCh37	1	150991087	150991087	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060228	H060228N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	30	49	.	.	ENST00000271620.3:c.277G>C	p.Ala93Pro	p.A93P	ENST00000271620	NM_021222.1	93	Gca/Cca	0	1	1	UPI000004BF0B	0	getma.org/pdb.php?prot=PRUNE_HUMAN&from=12&to=177&var=A93P	ENST00000271620		ENSG00000143363	13420		79	2.295		HGNC	p.A93P		PRUNE		SNV							ENST00000271620	protein_coding	getma.org/?cm=var&var=hg19,1,150991087,G,C&fts=all		hmmpanther:PTHR21466,hmmpanther:PTHR21466:SF13,Gene3D:1wpnA00,Pfam_domain:PF01368,Superfamily_domains:SSF64182		A/P		C	medium	433/2997		getma.org/?cm=msa&ty=f&p=PRUNE_HUMAN&rb=12&re=177&var=A93P	deleterious(0.04)	Q5SZF2_HUMAN,B7ZB72_HUMAN			YES	PRUNE,missense_variant,p.Ala93Pro,ENST00000271620,NM_021222.1;PRUNE,intron_variant,,ENST00000368936,;PRUNE,intron_variant,,ENST00000271619,;PRUNE,intron_variant,,ENST00000368935,;PRUNE,intron_variant,,ENST00000368937,;PRUNE,intron_variant,,ENST00000431193,;PRUNE,intron_variant,,ENST00000450884,;RNU6-884P,downstream_gene_variant,,ENST00000363889,;PRUNE,non_coding_transcript_exon_variant,,ENST00000467771,;PRUNE,non_coding_transcript_exon_variant,,ENST00000475722,;PRUNE,non_coding_transcript_exon_variant,,ENST00000462440,;							MODERATE	277/1362	A93P	PRUNE_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000271620		CCDS977.1			1	
TESPA1	0	LGGM	GRCh37	12	55356367	55356367	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	86	54	.	.	ENST00000449076.1:c.1315A>G	p.Arg439Gly	p.R439G	ENST00000449076	NM_001136030.2	439	Aga/Gga	0	1		UPI00001FC438	0	NA	ENST00000316577		ENSG00000135426	29109		140	1.04		HGNC	p.R439G		TESPA1		SNV							ENST00000449076	protein_coding	getma.org/?cm=var&var=hg19,12,55356367,T,C&fts=all		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF1		R/G		C	low	1425/1898		getma.org/?cm=msa&ty=f&p=K0748_HUMAN&rb=302&re=517&var=R439G	deleterious_low_confidence(0)	E9PN46_HUMAN,E9PM24_HUMAN,E9PIT9_HUMAN,E9PIN8_HUMAN,E9PHY9_HUMAN,B4DHC1_HUMAN				TESPA1,missense_variant,p.Arg301Gly,ENST00000524622,NM_014796.2,NM_001261844.1;TESPA1,missense_variant,p.Arg439Gly,ENST00000449076,NM_001136030.2;TESPA1,missense_variant,p.Arg301Gly,ENST00000532804,;TESPA1,missense_variant,p.Arg439Gly,ENST00000316577,NM_001098815.2;TESPA1,missense_variant,p.Arg301Gly,ENST00000531122,;TESPA1,missense_variant,p.Arg39Gly,ENST00000528240,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000526532,;TESPA1,downstream_gene_variant,,ENST00000533446,;TESPA1,downstream_gene_variant,,ENST00000524959,;TESPA1,3_prime_UTR_variant,,ENST00000524923,;TESPA1,downstream_gene_variant,,ENST00000525978,;							MODERATE	1315/1566	R439G	TESP1_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000312679		CCDS44913.1			1	
AHNAK	0	LGGM	GRCh37	11	62297961	62297961	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060228	H060228N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	124	57	.	.	ENST00000378024.4:c.3928A>C	p.Lys1310Gln	p.K1310Q	ENST00000378024	NM_001620.2	1310	Aag/Cag	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		181	2.81		HGNC	p.K1310Q	rs758159233	AHNAK		SNV				9.62E-05			ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62297961,T,G&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		K/Q		G	medium	4203/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=1201&re=1400&var=K1310Q		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Lys1310Gln,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,;							MODERATE	3928/17673	K1310Q	AHNK_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367263	8.24E-06	CCDS31584.1			1	
RASSF5	0	LGGM	GRCh37	1	206711600	206711600	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060228	H060228N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	43	57	.	.	ENST00000355294.4:c.557C>G	p.Thr186Ser	p.T186S	ENST00000355294	NM_182663.2	186	aCc/aGc	0	1	1	UPI0000072CF5	0	NA	ENST00000355294		ENSG00000136653	17609		100	1.39		HGNC	p.T186S		RASSF5		SNV							ENST00000338603	protein_coding	getma.org/?cm=var&var=hg19,1,206711600,C,G&fts=all		hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF9		T/S		G	low	614/2048		getma.org/?cm=msa&ty=f&p=RASF5_HUMAN&rb=174&re=273&var=T186S	tolerated(0.71)				YES	RASSF5,missense_variant,p.Thr186Ser,ENST00000355294,NM_182663.2;RASSF5,missense_variant,p.Thr186Ser,ENST00000367117,NM_182664.2;							MODERATE	557/1257	T186S	RASF5_HUMAN			Transcript		benign(0.02)	.	ENSP00000347443		CCDS30998.1			1	
SHMT2	0	LGGM	GRCh37	12	57628062	57628063	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H060228	H060228N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060228N.bam, H060228T.bam	Illumina HiSeq	73	59	.	.	ENST00000328923.3:c.1433_1434insT	p.Ser479LysfsTer24	p.S479Kfs*24	ENST00000328923	NM_005412.5	478	aca/acTa	0	1	1	UPI000000DA76	0		ENST00000328923		ENSG00000182199	10852		132			HGNC	p.T457fs		SHMT2		insertion							ENST00000553474	protein_coding			HAMAP:MF_00051,hmmpanther:PTHR11680:SF1,hmmpanther:PTHR11680,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000412,Superfamily_domains:SSF53383		T/TX		T		1885-1886/2537				G3V5L0_HUMAN,G3V4X0_HUMAN,G3V4T0_HUMAN,G3V3Y8_HUMAN,G3V2Y4_HUMAN,G3V2W0_HUMAN,G3V241_HUMAN			YES	SHMT2,frameshift_variant,p.Ser479LysfsTer24,ENST00000328923,NM_005412.5,NM_001166356.1;SHMT2,frameshift_variant,p.Ser458LysfsTer24,ENST00000449049,NM_001166357.1;SHMT2,frameshift_variant,p.Ser458LysfsTer24,ENST00000414700,NM_001166358.1;SHMT2,frameshift_variant,p.Ser469LysfsTer24,ENST00000557487,;SHMT2,frameshift_variant,p.Ser383LysfsTer24,ENST00000393827,;SHMT2,frameshift_variant,p.Ser458LysfsTer24,ENST00000553474,NM_001166359.1;SHMT2,3_prime_UTR_variant,,ENST00000557529,;NDUFA4L2,downstream_gene_variant,,ENST00000393825,NM_020142.3;NDUFA4L2,downstream_gene_variant,,ENST00000554503,;SHMT2,downstream_gene_variant,,ENST00000555634,;NDUFA4L2,downstream_gene_variant,,ENST00000556732,;SHMT2,downstream_gene_variant,,ENST00000554975,;SHMT2,downstream_gene_variant,,ENST00000556689,;SHMT2,downstream_gene_variant,,ENST00000555773,;SHMT2,downstream_gene_variant,,ENST00000554310,;SHMT2,downstream_gene_variant,,ENST00000556737,;SHMT2,downstream_gene_variant,,ENST00000557427,;SHMT2,downstream_gene_variant,,ENST00000553529,;SHMT2,downstream_gene_variant,,ENST00000557703,;SHMT2,downstream_gene_variant,,ENST00000554600,;SHMT2,downstream_gene_variant,,ENST00000554656,;SHMT2,downstream_gene_variant,,ENST00000557740,;SHMT2,downstream_gene_variant,,ENST00000553949,;NDUFA4L2,downstream_gene_variant,,ENST00000556234,;SHMT2,3_prime_UTR_variant,,ENST00000555774,;SHMT2,3_prime_UTR_variant,,ENST00000556825,;SHMT2,3_prime_UTR_variant,,ENST00000553837,;SHMT2,3_prime_UTR_variant,,ENST00000557433,;SHMT2,3_prime_UTR_variant,,ENST00000555116,;SHMT2,3_prime_UTR_variant,,ENST00000557348,;SHMT2,non_coding_transcript_exon_variant,,ENST00000554467,;NDUFA4L2,downstream_gene_variant,,ENST00000555173,;SHMT2,downstream_gene_variant,,ENST00000553868,;SHMT2,downstream_gene_variant,,ENST00000555563,;SHMT2,downstream_gene_variant,,ENST00000554604,;SHMT2,downstream_gene_variant,,ENST00000555213,;SHMT2,downstream_gene_variant,,ENST00000553950,;SHMT2,downstream_gene_variant,,ENST00000557269,;SHMT2,downstream_gene_variant,,ENST00000553324,;NDUFA4L2,downstream_gene_variant,,ENST00000554688,;SHMT2,downstream_gene_variant,,ENST00000556798,;SHMT2,downstream_gene_variant,,ENST00000557302,;							HIGH	1433-1434/1515		GLYM_HUMAN			Transcript			.	ENSP00000333667		CCDS8934.1			1	
TMEM63C	0	LGGM	GRCh37	14	77685306	77685306	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	7	2	.	.	ENST00000298351.4:c.150G>T	p.Val50=	p.V50=	ENST00000298351	NM_020431.2	50	gtG/gtT	0	1	1	UPI0000049C5C	0		ENST00000298351		ENSG00000165548	23787		9			HGNC	p.V50V		TMEM63C		SNV							ENST00000555338	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018,Pfam_domain:PF13967		V		T		294/5334				G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN			YES	TMEM63C,splice_region_variant,p.=,ENST00000298351,NM_020431.2;TMEM63C,splice_region_variant,p.=,ENST00000554766,;TMEM63C,splice_region_variant,p.=,ENST00000555338,;TMEM63C,synonymous_variant,p.=,ENST00000554346,;TMEM63C,downstream_gene_variant,,ENST00000557408,;TMEM63C,downstream_gene_variant,,ENST00000556514,;RP11-463C8.4,splice_region_variant,,ENST00000557752,;							LOW	150/2421		TM63C_HUMAN			Transcript			.	ENSP00000298351		CCDS45141.1			1	
TNS3	0	LGGM	GRCh37	7	47463778	47463778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	23	2	.	.	ENST00000398879.1:c.394G>T	p.Asp132Tyr	p.D132Y	ENST00000398879		132	Gac/Tac	0	1		UPI00001AE9DA	0	getma.org/pdb.php?prot=TENS3_HUMAN&from=1&to=170&var=D132Y	ENST00000311160		ENSG00000136205	21616		25	2.515		HGNC	p.D132Y		TNS3		SNV							ENST00000398879	protein_coding	getma.org/?cm=var&var=hg19,7,47463778,C,A&fts=all		Gene3D:3.90.190.10,PROSITE_profiles:PS51181,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF41,SMART_domains:SM00404,Superfamily_domains:SSF52799		D/Y		A	medium	752/7618		getma.org/?cm=msa&ty=f&p=TENS3_HUMAN&rb=1&re=170&var=D132Y	deleterious(0)	C9JWN9_HUMAN,C9JTD0_HUMAN				TNS3,missense_variant,p.Asp132Tyr,ENST00000398879,;TNS3,missense_variant,p.Asp132Tyr,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Asp132Tyr,ENST00000355730,;TNS3,missense_variant,p.Asp235Tyr,ENST00000457718,;TNS3,missense_variant,p.Asp221Tyr,ENST00000450444,;TNS3,missense_variant,p.Asp132Tyr,ENST00000442536,;TNS3,missense_variant,p.Asp132Tyr,ENST00000458317,;TNS3,missense_variant,p.Asp132Tyr,ENST00000415929,;							MODERATE	394/4338	D132Y	TENS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312143		CCDS5506.2			1	
HCAR3	0	LGGM	GRCh37	12	123200516	123200516	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	3	2	.	.	ENST00000528880.2:c.769C>A	p.Leu257Ile	p.L257I	ENST00000528880	NM_006018.2	257	Ctc/Atc	0	1	1	UPI00001AFD35	0	getma.org/pdb.php?prot=HCAR3_HUMAN&from=201&to=387&var=L257I	ENST00000528880		ENSG00000255398	16824		5	1.995		HGNC	p.L257I		HCAR3		SNV							ENST00000528880	protein_coding	getma.org/?cm=var&var=hg19,12,123200516,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF0,Superfamily_domains:SSF81321		L/I		T	medium	924/2137		getma.org/?cm=msa&ty=f&p=HCAR3_HUMAN&rb=201&re=387&var=L257I	tolerated(0.42)				YES	HCAR3,missense_variant,p.Leu257Ile,ENST00000528880,NM_006018.2;HCAR1,intron_variant,,ENST00000356987,;RP11-324E6.6,non_coding_transcript_exon_variant,,ENST00000543611,;RP11-324E6.6,downstream_gene_variant,,ENST00000545293,;							MODERATE	769/1164	L257I	HCAR3_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000436714		CCDS53842.1			1	
SCAMP5	0	LGGM	GRCh37	15	75311129	75311129	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	16	3	.	.	ENST00000361900.6:c.514-1G>T		p.X172_splice	ENST00000361900	NM_001178111.1			0	1	1	UPI00000700E5	0		ENST00000361900		ENSG00000198794	30386		19			HGNC	-		SCAMP5		SNV							ENST00000568423	protein_coding							T		-/3427				H3BTD1_HUMAN,H3BT30_HUMAN,H3BS22_HUMAN,H3BP89_HUMAN,H3BNW6_HUMAN,H3BNH7_HUMAN,H3BNB3_HUMAN			YES	SCAMP5,splice_acceptor_variant,,ENST00000361900,NM_001178111.1;SCAMP5,splice_acceptor_variant,,ENST00000425597,NM_001178112.1,NM_138967.3;SCAMP5,splice_acceptor_variant,,ENST00000562212,;SCAMP5,splice_acceptor_variant,,ENST00000545456,;SCAMP5,splice_acceptor_variant,,ENST00000568081,;PPCDC,upstream_gene_variant,,ENST00000342932,NM_021823.3;PPCDC,upstream_gene_variant,,ENST00000568649,;PPCDC,upstream_gene_variant,,ENST00000564923,;SCAMP5,downstream_gene_variant,,ENST00000568018,;SCAMP5,downstream_gene_variant,,ENST00000567920,;SCAMP5,downstream_gene_variant,,ENST00000562327,;SCAMP5,downstream_gene_variant,,ENST00000566872,;SCAMP5,downstream_gene_variant,,ENST00000565989,;SCAMP5,downstream_gene_variant,,ENST00000564779,;PPCDC,upstream_gene_variant,,ENST00000569562,;SCAMP5,downstream_gene_variant,,ENST00000565923,;SCAMP5,downstream_gene_variant,,ENST00000564141,;SCAMP5,splice_acceptor_variant,,ENST00000562765,;SCAMP5,splice_acceptor_variant,,ENST00000568423,;SCAMP5,splice_acceptor_variant,,ENST00000567529,;PPCDC,upstream_gene_variant,,ENST00000568207,;SCAMP5,downstream_gene_variant,,ENST00000564491,;PPCDC,upstream_gene_variant,,ENST00000562192,;RP11-151H2.1,upstream_gene_variant,,ENST00000565251,;							HIGH	514/708		SCAM5_HUMAN			Transcript			.	ENSP00000355387		CCDS45306.1			1	
SNX10	0	LGGM	GRCh37	7	26404732	26404732	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060236	H060236N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	12	3	.	.	ENST00000338523.4:c.278A>G	p.Gln93Arg	p.Q93R	ENST00000338523	NM_013322.2	93	cAg/cGg	0	1	1	UPI000003E7DF	0	getma.org/pdb.php?prot=SNX10_HUMAN&from=8&to=124&var=Q93R	ENST00000338523		ENSG00000086300	14974		15	-0.02		HGNC	p.Q93R		SNX10		SNV			1				ENST00000338523	protein_coding	getma.org/?cm=var&var=hg19,7,26404732,A,G&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF128,SMART_domains:SM00312,Superfamily_domains:SSF64268		Q/R		G	neutral	465/2546		getma.org/?cm=msa&ty=f&p=SNX10_HUMAN&rb=8&re=124&var=Q93R	tolerated(0.31)	Q75MY3_HUMAN,Q75MD2_HUMAN,G5E9H5_HUMAN			YES	SNX10,missense_variant,p.Gln93Arg,ENST00000338523,NM_013322.2,NM_001199835.1;SNX10,missense_variant,p.Gln93Arg,ENST00000396376,NM_001199837.1;SNX10,missense_variant,p.Gln9Arg,ENST00000409838,NM_001199838.1;SNX10,missense_variant,p.Gln119Arg,ENST00000446848,;SNX10,missense_variant,p.Gln119Arg,ENST00000416246,;SNX10,missense_variant,p.Gln53Arg,ENST00000409367,;SNX10,downstream_gene_variant,,ENST00000412416,;							MODERATE	278/606	Q93R	SNX10_HUMAN			Transcript		benign(0.043)	.	ENSP00000343709		CCDS5399.1			1	
HSD17B4	0	LGGM	GRCh37	5	118824889	118824889	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	31	3	.	.	ENST00000504811.1:c.700C>A	p.Leu234Ile	p.L234I	ENST00000504811	NM_001199291.1	234	Ctt/Att	0	1		UPI0000000C4F	0	getma.org/pdb.php?prot=DHB4_HUMAN&from=184&to=325&var=L209I	ENST00000256216		ENSG00000133835	5213		34	1.68		HGNC	p.L69I		HSD17B4		SNV			1				ENST00000414835	protein_coding	getma.org/?cm=var&var=hg19,5,118824889,C,A&fts=all		Gene3D:3.40.50.720,Prints_domain:PR00081,hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF2,Superfamily_domains:SSF51735		L/I		A	low	758/2683		getma.org/?cm=msa&ty=f&p=DHB4_HUMAN&rb=184&re=325&var=L209I	tolerated(0.32)	Q9UBA4_HUMAN,E7ET17_HUMAN				HSD17B4,missense_variant,p.Leu234Ile,ENST00000504811,NM_001199291.1;HSD17B4,missense_variant,p.Leu209Ile,ENST00000256216,NM_000414.3;HSD17B4,missense_variant,p.Leu185Ile,ENST00000510025,;HSD17B4,missense_variant,p.Leu69Ile,ENST00000414835,;HSD17B4,missense_variant,p.Leu191Ile,ENST00000515320,NM_001199292.1;HSD17B4,missense_variant,p.Leu72Ile,ENST00000513628,;HSD17B4,splice_region_variant,,ENST00000509514,;HSD17B4,splice_region_variant,,ENST00000505181,;HSD17B4,upstream_gene_variant,,ENST00000520216,;HSD17B4,missense_variant,p.Leu209Ile,ENST00000442060,;HSD17B4,splice_region_variant,,ENST00000515235,;HSD17B4,splice_region_variant,,ENST00000512644,;							MODERATE	625/2211	L209I	DHB4_HUMAN			Transcript		benign(0.002)	.	ENSP00000256216		CCDS4126.1			1	
DNAJC4	0	LGGM	GRCh37	11	63999996	63999996	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	22	3	.	.	ENST00000321685.3:c.275G>A	p.Arg92His	p.R92H	ENST00000321685	NM_005528.3	92	cGc/cAc	0	1	1	UPI000000DA95	0	getma.org/pdb.php?prot=DNJC4_HUMAN&from=34&to=96&var=R92H	ENST00000321685		ENSG00000110011	5271	8.67E-05	25	4.075		HGNC	p.R92H	rs769533900	DNAJC4		SNV							ENST00000321685	protein_coding	getma.org/?cm=var&var=hg19,11,63999996,G,A&fts=all		Superfamily_domains:SSF46565,Pfam_domain:PF00226,Gene3D:1.10.287.110,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF145,PROSITE_profiles:PS50076		R/H		A	high	740/1288	1.51E-05	getma.org/?cm=msa&ty=f&p=DNJC4_HUMAN&rb=34&re=96&var=R92H	deleterious(0)				YES	DNAJC4,missense_variant,p.Arg92His,ENST00000321685,NM_005528.3;DNAJC4,missense_variant,p.Arg92His,ENST00000321460,;DNAJC4,missense_variant,p.Arg30His,ENST00000535246,;DNAJC4,intron_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,;RP11-783K16.14,intron_variant,,ENST00000534988,;RP11-783K16.14,intron_variant,,ENST00000539963,;DNAJC4,3_prime_UTR_variant,,ENST00000536006,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000537109,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000542376,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000538961,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000543791,;DNAJC4,non_coding_transcript_exon_variant,,ENST00000543685,;NUDT22,downstream_gene_variant,,ENST00000422364,;NUDT22,downstream_gene_variant,,ENST00000535000,;DNAJC4,upstream_gene_variant,,ENST00000540945,;VEGFB,upstream_gene_variant,,ENST00000543462,;NUDT22,downstream_gene_variant,,ENST00000543358,;NUDT22,downstream_gene_variant,,ENST00000534929,;NUDT22,downstream_gene_variant,,ENST00000545184,;NUDT22,downstream_gene_variant,,ENST00000543501,;NUDT22,downstream_gene_variant,,ENST00000537094,;							MODERATE	275/726	R92H	DNJC4_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000396896	1.65E-05	CCDS41666.1			1	
FAM205B	0	LGGM	GRCh37	9	34834451	34834451	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	36	3	.	.	ENST00000399773.6:n.1850G>T		*617*	ENST00000399773				0	1	1		0		ENST00000399773		ENSG00000257198	24504		39			HGNC	p.Q346H		FAM205B		SNV							ENST00000455647	transcribed_unprocessed_pseudogene							A		1850/4009							YES	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;							MODIFIER						Transcript			.						1	
C10orf120	0	LGGM	GRCh37	10	124457647	124457647	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	25	3	.	.	ENST00000329446.4:c.610G>A	p.Ala204Thr	p.A204T	ENST00000329446	NM_001010912.2	204	Gca/Aca	0	1	1	UPI00001F89D1	0	NA	ENST00000329446		ENSG00000183559	25707		28	1.7		HGNC	p.A204T		C10orf120		SNV							ENST00000329446	protein_coding	getma.org/?cm=var&var=hg19,10,124457647,C,T&fts=all		hmmpanther:PTHR23231:SF14,hmmpanther:PTHR23231		A/T		T	low	642/1064		getma.org/?cm=msa&ty=f&p=CJ120_HUMAN&rb=50&re=301&var=A204T	tolerated(0.09)				YES	C10orf120,missense_variant,p.Ala204Thr,ENST00000329446,NM_001010912.2;C10orf120,intron_variant,,ENST00000432000,;							MODERATE	610/1008	A204T	CJ120_HUMAN			Transcript		benign(0.382)	.	ENSP00000331012		CCDS31302.1			1	
BCKDHA	0	LGGM	GRCh37	19	41916889	41916889	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	60	4	.	.	ENST00000269980.2:c.350G>A	p.Arg117His	p.R117H	ENST00000269980	NM_000709.3	117	cGc/cAc	0	1	1	UPI0000130BC4	0	getma.org/pdb.php?prot=ODBA_HUMAN&from=106&to=406&var=R117H	ENST00000269980		ENSG00000248098	986		64	2.285		HGNC	p.R151H	rs762665826	BCKDHA		SNV			1				ENST00000595085	protein_coding	getma.org/?cm=var&var=hg19,19,41916889,G,A&fts=all		Gene3D:3.40.50.970,Pfam_domain:PF00676,hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF1,Superfamily_domains:SSF52518		R/H		A	medium	718/2103	1.50E-05	getma.org/?cm=msa&ty=f&p=ODBA_HUMAN&rb=106&re=406&var=R117H	tolerated(0.1)	Q9UMB3_HUMAN,Q59EI3_HUMAN			YES	BCKDHA,missense_variant,p.Arg117His,ENST00000269980,NM_000709.3,NM_001164783.1;CTC-435M10.3,missense_variant,p.Arg151His,ENST00000540732,;BCKDHA,missense_variant,p.Arg151His,ENST00000595085,;BCKDHA,missense_variant,p.Arg95His,ENST00000457836,;BCKDHA,missense_variant,p.Arg53His,ENST00000541315,;BCKDHA,intron_variant,,ENST00000542943,;BCKDHA,upstream_gene_variant,,ENST00000535632,;CTC-435M10.3,downstream_gene_variant,,ENST00000604424,;BCKDHA,non_coding_transcript_exon_variant,,ENST00000538423,;							MODERATE	350/1338	R117H	ODBA_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000269980	8.24E-06	CCDS12581.1			1	
HERC2	0	LGGM	GRCh37	15	28457652	28457652	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	5	4	.	.	ENST00000261609.7:c.6864C>T	p.Asn2288=	p.N2288=	ENST00000261609	NM_004667.5	2288	aaC/aaT	0	1	1	UPI00004578F7	0		ENST00000261609		ENSG00000128731	4868		9			HGNC	p.N2288N	COSM3500293	HERC2		SNV			1			1	ENST00000261609	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		N		A		6973/15337							YES	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;					1		LOW	6864/14505		HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
PIWIL1	0	LGGM	GRCh37	12	130827563	130827563	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	17	5	.	.	ENST00000245255.3:c.107G>C	p.Arg36Thr	p.R36T	ENST00000245255	NM_004764.4	36	aGg/aCg	0	1	1	UPI000007059F	0	NA	ENST00000245255		ENSG00000125207	9007		22	0.895		HGNC	p.R36T		PIWIL1		SNV							ENST00000546060	protein_coding	getma.org/?cm=var&var=hg19,12,130827563,G,C&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF05831,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31		R/T		C	low	379/3897		getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=1&re=111&var=R36T	tolerated(0.6)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN			YES	PIWIL1,missense_variant,p.Arg36Thr,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,missense_variant,p.Arg36Thr,ENST00000542723,;PIWIL1,missense_variant,p.Arg36Thr,ENST00000546060,;PIWIL1,missense_variant,p.Arg36Thr,ENST00000535956,;PIWIL1,missense_variant,p.Arg36Thr,ENST00000539995,;PIWIL1,missense_variant,p.Arg36Thr,ENST00000539400,;PIWIL1,upstream_gene_variant,,ENST00000540672,;							MODERATE	107/2586	R36T	PIWL1_HUMAN			Transcript		possibly_damaging(0.537)	.	ENSP00000245255		CCDS9268.1			1	
VANGL2	0	LGGM	GRCh37	1	160394054	160394054	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	34	6	.	.	ENST00000368061.2:c.1286C>T	p.Thr429Met	p.T429M	ENST00000368061	NM_020335.2	429	aCg/aTg	0	1	1	UPI00001C1D79	0	NA	ENST00000368061		ENSG00000162738	15511		40	2.075		HGNC	p.T429M	rs766750023	VANGL2		SNV			1				ENST00000368061	protein_coding	getma.org/?cm=var&var=hg19,1,160394054,C,T&fts=all		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10		T/M		T	medium	1760/5340	1.51E-05	getma.org/?cm=msa&ty=f&p=VANG2_HUMAN&rb=21&re=521&var=T429M	deleterious(0.04)				YES	VANGL2,missense_variant,p.Thr429Met,ENST00000368061,NM_020335.2;VANGL2,downstream_gene_variant,,ENST00000483408,;							MODERATE	1286/1566	T429M	VANG2_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000357040	8.24E-06	CCDS30915.1			1	
EPHA7	0	LGGM	GRCh37	6	94129001	94129001	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	34	7	.	.	ENST00000369303.4:c.59G>A	p.Arg20His	p.R20H	ENST00000369303	NM_004440.3	20	cGc/cAc	0	1	1	UPI0000044771	0	NA	ENST00000369303		ENSG00000135333	3390		41	0		HGNC	p.R20H		EPHA7		SNV							ENST00000369297	protein_coding	getma.org/?cm=var&var=hg19,6,94129001,C,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666		R/H		T	neutral	244/6588		getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=1&re=31&var=R20H	tolerated(0.54)				YES	EPHA7,missense_variant,p.Arg20His,ENST00000369303,NM_004440.3,NM_001288629.1;EPHA7,missense_variant,p.Arg20His,ENST00000369297,NM_001288630.1;							MODERATE	59/2997	R20H	EPHA7_HUMAN			Transcript		benign(0)	.	ENSP00000358309		CCDS5031.1			1	
THBS1	0	LGGM	GRCh37	15	39874111	39874111	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	14	7	.	.	ENST00000260356.5:c.53C>T	p.Thr18Ile	p.T18I	ENST00000260356	NM_003246.2	18	aCc/aTc	0	1	1	UPI00001FE219	0	NA	ENST00000260356		ENSG00000137801	11785		21	1.5		HGNC	p.T18I	rs751733166	THBS1		SNV							ENST00000397591	protein_coding	getma.org/?cm=var&var=hg19,15,39874111,C,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78		T/I		T	low	218/7775	1.50E-05	getma.org/?cm=msa&ty=f&p=TSP1_HUMAN&rb=1&re=200&var=T18I	deleterious_low_confidence(0.01)	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,missense_variant,p.Thr18Ile,ENST00000260356,NM_003246.2;THBS1,missense_variant,p.Thr18Ile,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000478845,;							MODERATE	53/3513	T18I	TSP1_HUMAN			Transcript		benign(0.017)	.	ENSP00000260356	8.24E-06	CCDS32194.1			1	
KRTAP23-1	0	LGGM	GRCh37	21	31720875	31720875	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	24	7	.	.	ENST00000334160.4:c.50G>A	p.Gly17Asp	p.G17D	ENST00000334160	NM_181624.1	17	gGc/gAc	0	1	1	UPI00001A9E49	0		ENST00000334160		ENSG00000186980	18928		31			HGNC	p.G17D		KRTAP23-1		SNV							ENST00000334160	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF7,Pfam_domain:PF05287		G/D		T		50/208			tolerated_low_confidence(0.22)				YES	KRTAP23-1,missense_variant,p.Gly17Asp,ENST00000334160,NM_181624.1;							MODERATE	50/198		KR231_HUMAN			Transcript		unknown(0)	.	ENSP00000346536		CCDS33533.1			1	
MMP21	0	LGGM	GRCh37	10	127455426	127455426	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060236	H060236N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	42	8	.	.	ENST00000368808.3:c.1515T>C	p.Asn505=	p.N505=	ENST00000368808	NM_147191.1	505	aaT/aaC	0	1	1	UPI000006FDF6	0		ENST00000368808		ENSG00000154485	14357		50			HGNC	p.N505N		MMP21		SNV							ENST00000368808	protein_coding			PROSITE_profiles:PS51642,hmmpanther:PTHR10201:SF123,hmmpanther:PTHR10201,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923		N		G		1515/1919							YES	MMP21,synonymous_variant,p.=,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,;							LOW	1515/1710		MMP21_HUMAN			Transcript			.	ENSP00000357798		CCDS7647.1			1	
FAM19A4	0	LGGM	GRCh37	3	68802048	68802048	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	22	8	.	.	ENST00000295569.7:c.252G>A	p.Ala84=	p.A84=	ENST00000295569	NM_182522.4	84	gcG/gcA	0	1	1	UPI0000071129	0		ENST00000295569		ENSG00000163377	21591	8.64E-05	30			HGNC	p.A84A	rs571268666	FAM19A4	6.06E-05	SNV							ENST00000295569	protein_coding		T:0	hmmpanther:PTHR31770:SF1,hmmpanther:PTHR31770,Pfam_domain:PF12020		A		T		745/2292	1.50E-05			C9JUW7_HUMAN	T:0.0014	T:0	YES	FAM19A4,synonymous_variant,p.=,ENST00000295569,NM_182522.4,NM_001005527.2;FAM19A4,downstream_gene_variant,,ENST00000495737,;		T:0.0002					LOW	252/423		F19A4_HUMAN		T:0	Transcript			.	ENSP00000295569	2.47E-05	CCDS2907.1		T:0	1	
GALNT15	0	LGGM	GRCh37	3	16264265	16264265	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	29	8	.	.	ENST00000339732.5:c.1773G>A	p.Glu591=	p.E591=	ENST00000339732	NM_054110.4	591	gaG/gaA	0	1	1	UPI0000048F0D	0		ENST00000339732		ENSG00000131386	21531		37			HGNC	p.E591E		GALNT15		SNV							ENST00000437509	protein_coding			PROSITE_profiles:PS50231,hmmpanther:PTHR11675:SF36,hmmpanther:PTHR11675,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370		E		A		2276/4669				B3KT16_HUMAN			YES	GALNT15,splice_region_variant,p.=,ENST00000339732,NM_054110.4;GALNT15,splice_region_variant,p.=,ENST00000437509,;GALNT15,downstream_gene_variant,,ENST00000489467,;							LOW	1773/1920		GLT15_HUMAN			Transcript			.	ENSP00000344260		CCDS33711.1			1	
CHRNA3	0	LGGM	GRCh37	15	78911230	78911230	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	17	9	.	.	ENST00000326828.5:c.110G>T	p.Arg37Leu	p.R37L	ENST00000326828	NM_000743.4	37	cGt/cTt	0	1	1	UPI000013D783	0	getma.org/pdb.php?prot=ACHA3_HUMAN&from=35&to=241&var=R37L	ENST00000326828		ENSG00000080644	1957		26	2.42		HGNC	p.R37L		CHRNA3		SNV			1				ENST00000326828	protein_coding	getma.org/?cm=var&var=hg19,15,78911230,C,A&fts=all		hmmpanther:PTHR18945:SF445,hmmpanther:PTHR18945,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932		R/L		A	medium	495/3202		getma.org/?cm=msa&ty=f&p=ACHA3_HUMAN&rb=35&re=241&var=R37L	deleterious(0)	Q6EWN2_HUMAN,B4DP53_HUMAN			YES	CHRNA3,missense_variant,p.Arg37Leu,ENST00000326828,NM_000743.4;CHRNA3,missense_variant,p.Arg37Leu,ENST00000348639,NM_001166694.1;CHRNA3,5_prime_UTR_variant,,ENST00000559080,;CHRNA3,non_coding_transcript_exon_variant,,ENST00000559941,;CHRNA3,missense_variant,p.Arg37Leu,ENST00000559658,;CHRNA3,non_coding_transcript_exon_variant,,ENST00000561128,;							MODERATE	110/1518	R37L	ACHA3_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000315602		CCDS10305.1			1	
LANCL2	0	LGGM	GRCh37	7	55466190	55466190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	46	10	.	.	ENST00000254770.2:c.397G>A	p.Val133Ile	p.V133I	ENST00000254770	NM_018697.3	133	Gta/Ata	0	1	1	UPI000006F7D0	0	getma.org/pdb.php?prot=LANC2_HUMAN&from=96&to=444&var=V133I	ENST00000254770		ENSG00000132434	6509		56	0.865		HGNC	p.V133I		LANCL2		SNV							ENST00000254770	protein_coding	getma.org/?cm=var&var=hg19,7,55466190,G,A&fts=all		hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF11,Pfam_domain:PF05147,Superfamily_domains:0053930		V/I		A	low	975/4353		getma.org/?cm=msa&ty=f&p=LANC2_HUMAN&rb=96&re=444&var=V133I	tolerated(0.13)	B4DWZ7_HUMAN			YES	LANCL2,missense_variant,p.Val133Ile,ENST00000254770,NM_018697.3;LANCL2,non_coding_transcript_exon_variant,,ENST00000486376,;LANCL2,3_prime_UTR_variant,,ENST00000452107,;							MODERATE	397/1353	V133I	LANC2_HUMAN			Transcript		benign(0.063)	.	ENSP00000254770		CCDS5517.1			1	
CPXM1	0	LGGM	GRCh37	20	2777020	2777020	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060236	H060236N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	24	11	.	.	ENST00000380605.2:c.1115T>C	p.Leu372Pro	p.L372P	ENST00000380605	NM_001184699.1	372	cTc/cCc	0	1	1	UPI0000039DD0	0	getma.org/pdb.php?prot=CPXM1_HUMAN&from=305&to=613&var=L372P	ENST00000380605		ENSG00000088882	15771		35	3.005		HGNC	p.L372P		CPXM1		SNV							ENST00000380605	protein_coding	getma.org/?cm=var&var=hg19,20,2777020,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF43,PROSITE_patterns:PS00132,Gene3D:3.40.630.10,Pfam_domain:PF00246,Superfamily_domains:SSF53187		L/P		G	medium	1180/2391		getma.org/?cm=msa&ty=f&p=CPXM1_HUMAN&rb=305&re=613&var=L372P	deleterious(0.02)	Q8N2F1_HUMAN,B4DZY4_HUMAN			YES	CPXM1,missense_variant,p.Leu372Pro,ENST00000380605,NM_001184699.1,NM_019609.4;							MODERATE	1115/2205	L372P	CPXM1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000369979		CCDS13033.1			1	
BROX	0	LGGM	GRCh37	1	222904831	222904831	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060236	H060236N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	55	12	.	.	ENST00000340934.5:c.1122T>C	p.Asp374=	p.D374=	ENST00000340934	NM_144695.2	374	gaT/gaC	0	1	1	UPI000013E1D1	0		ENST00000340934		ENSG00000162819	26512		67			HGNC	p.D374D		BROX		SNV							ENST00000340934	protein_coding			PROSITE_profiles:PS51180,hmmpanther:PTHR23032,SMART_domains:SM01041		D		C		1528/4124				Q5VW33_HUMAN			YES	BROX,synonymous_variant,p.=,ENST00000340934,NM_144695.2;BROX,synonymous_variant,p.=,ENST00000539697,;BROX,intron_variant,,ENST00000537020,;BROX,downstream_gene_variant,,ENST00000426638,;BROX,downstream_gene_variant,,ENST00000489191,;							LOW	1122/1236		BROX_HUMAN			Transcript			.	ENSP00000343742		CCDS1534.1			1	
PCDHA7	0	LGGM	GRCh37	5	140215655	140215655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	43	12	.	.	ENST00000525929.1:c.1687C>A	p.Pro563Thr	p.P563T	ENST00000525929	NM_018910.2	563	Ccg/Acg	0	1	1	UPI00001273CF	0	getma.org/pdb.php?prot=PCDA7_HUMAN&from=456&to=565&var=P563T	ENST00000525929		ENSG00000204963	8673		55	4.545		HGNC	p.P563T		PCDHA7		SNV							ENST00000378125	protein_coding	getma.org/?cm=var&var=hg19,5,140215655,C,A&fts=all		Prints_domain:PR00205,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268		P/T		A	high	1687/5221		getma.org/?cm=msa&ty=f&p=PCDA7_HUMAN&rb=456&re=565&var=P563T	deleterious_low_confidence(0)				YES	PCDHA7,missense_variant,p.Pro563Thr,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Pro563Thr,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,;							MODERATE	1687/2814	P563T	PCDA7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000436426		CCDS54918.1			1	
CDH7	0	LGGM	GRCh37	18	63511296	63511296	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060236	H060236N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	38	13	.	.	ENST00000397968.2:c.1230T>C	p.Pro410=	p.P410=	ENST00000397968	NM_004361.2	410	ccT/ccC	0	1		UPI000013D269	0		ENST00000323011		ENSG00000081138	1766		51			HGNC	p.P410P		CDH7		SNV							ENST00000536984	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313		P		C		1555/2728								CDH7,synonymous_variant,p.=,ENST00000536984,;CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;							LOW	1230/2358		CADH7_HUMAN			Transcript			.	ENSP00000319166		CCDS11993.1			1	
IPO13	0	LGGM	GRCh37	1	44422618	44422618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	22	13	.	.	ENST00000372343.3:c.1241C>T	p.Ser414Leu	p.S414L	ENST00000372343	NM_014652.3	414	tCa/tTa	0	1	1	UPI0000073F11	0	getma.org/pdb.php?prot=IPO13_HUMAN&from=264&to=463&var=S414L	ENST00000372343		ENSG00000117408	16853		35	0.49		HGNC	p.S414L		IPO13		SNV							ENST00000372343	protein_coding	getma.org/?cm=var&var=hg19,1,44422618,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF29,Superfamily_domains:SSF48371		S/L		T	neutral	1903/3894		getma.org/?cm=msa&ty=f&p=IPO13_HUMAN&rb=264&re=463&var=S414L	tolerated(0.19)				YES	IPO13,missense_variant,p.Ser414Leu,ENST00000372343,NM_014652.3;IPO13,non_coding_transcript_exon_variant,,ENST00000492152,;IPO13,downstream_gene_variant,,ENST00000489773,;IPO13,upstream_gene_variant,,ENST00000480902,;							MODERATE	1241/2892	S414L	IPO13_HUMAN			Transcript		benign(0.008)	.	ENSP00000361418		CCDS503.1			1	
ITPR3	0	LGGM	GRCh37	6	33660508	33660508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060236	H060236N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	31	16	.	.	ENST00000374316.5:c.7462T>C	p.Ser2488Pro	p.S2488P	ENST00000374316		2488	Tct/Cct	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		47	-0.17		HGNC	p.S2488P		ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33660508,T,C&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		S/P		C	neutral	8522/9870		getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=2205&re=2516&var=S2488P	tolerated(1)	A6H8K3_HUMAN			YES	ITPR3,missense_variant,p.Ser2488Pro,ENST00000374316,;ITPR3,missense_variant,p.Ser2488Pro,ENST00000605930,NM_002224.3;UQCC2,downstream_gene_variant,,ENST00000607484,NM_032340.3;UQCC2,downstream_gene_variant,,ENST00000374231,;UQCC2,downstream_gene_variant,,ENST00000374214,;SBP1,downstream_gene_variant,,ENST00000594414,;UQCC2,downstream_gene_variant,,ENST00000606961,;							MODERATE	7462/8016	S2488P	ITPR3_HUMAN			Transcript		benign(0.002)	.	ENSP00000363435		CCDS4783.1			1	
PLCH2	0	LGGM	GRCh37	1	2435862	2435862	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	28	17	.	.	ENST00000449969.1:c.*796C>A		*266*	ENST00000449969				0	1		UPI00005B72F8	0	NA	ENST00000378486		ENSG00000149527	29037		45	1.1		HGNC	p.T906N		PLCH2		SNV							ENST00000278878	protein_coding	getma.org/?cm=var&var=hg19,1,2435862,C,A&fts=all				T/N		A	low	3735/4837		getma.org/?cm=msa&ty=f&p=PLCH2_HUMAN&rb=1053&re=1252&var=T1154N	deleterious_low_confidence(0)					PLCH2,missense_variant,p.Thr1154Asn,ENST00000378486,NM_014638.2;PLCH2,missense_variant,p.Thr1154Asn,ENST00000419816,;PLCH2,missense_variant,p.Thr1118Asn,ENST00000378488,;PLCH2,missense_variant,p.Thr977Asn,ENST00000278878,;PLCH2,3_prime_UTR_variant,,ENST00000449969,;PANK4,downstream_gene_variant,,ENST00000378466,NM_018216.1;PANK4,downstream_gene_variant,,ENST00000435556,;PLCH2,downstream_gene_variant,,ENST00000288766,;PLCH2,non_coding_transcript_exon_variant,,ENST00000473964,;PLCH2,non_coding_transcript_exon_variant,,ENST00000343889,;PLCH2,non_coding_transcript_exon_variant,,ENST00000462379,;PANK4,downstream_gene_variant,,ENST00000505228,;							MODERATE	3461/4251	T1154N	PLCH2_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000367747		CCDS59959.1			1	
SIN3A	0	LGGM	GRCh37	15	75688628	75688628	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	55	17	.	.	ENST00000394947.3:c.2064C>G	p.Pro688=	p.P688=	ENST00000394947	NM_001145358.1	688	ccC/ccG	0	1		UPI000013EAD4	0		ENST00000360439		ENSG00000169375	19353		72			HGNC	p.P688P		SIN3A		SNV							ENST00000360439	protein_coding			hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2		P		C		2246/5050				H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN				SIN3A,synonymous_variant,p.=,ENST00000394947,NM_001145358.1;SIN3A,synonymous_variant,p.=,ENST00000360439,NM_001145357.1;SIN3A,synonymous_variant,p.=,ENST00000394949,NM_015477.2;							LOW	2064/3822		SIN3A_HUMAN			Transcript			.	ENSP00000353622		CCDS10279.1			1	
ZNF560	0	LGGM	GRCh37	19	9578324	9578324	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060236	H060236N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	35	17	.	.	ENST00000301480.4:c.1299A>G	p.Lys433=	p.K433=	ENST00000301480	NM_152476.2	433	aaA/aaG	0	1	1	UPI000013E720	0		ENST00000301480		ENSG00000198028	26484		52			HGNC	p.K433K		ZNF560		SNV							ENST00000301480	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		K		C		1513/2654							YES	ZNF560,synonymous_variant,p.=,ENST00000301480,NM_152476.2;ZNF560,downstream_gene_variant,,ENST00000585974,;							LOW	1299/2373		ZN560_HUMAN			Transcript			.	ENSP00000301480		CCDS12214.1			1	
ERBB3	0	LGGM	GRCh37	12	56486583	56486583	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	50	19	.	.	ENST00000267101.3:c.1162C>T	p.Arg388Trp	p.R388W	ENST00000267101	NM_001982.3	388	Cgg/Tgg	0	1	1	UPI000012A113	0	getma.org/pdb.php?prot=ERBB3_HUMAN&from=353&to=474&var=R388W	ENST00000267101		ENSG00000065361	3431		69	2.485		HGNC	p.R388W	rs772484121	ERBB3		SNV			1				ENST00000267101	protein_coding	getma.org/?cm=var&var=hg19,12,56486583,C,T&fts=all		hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF52058		R/W		T	medium	1602/5919	5.99E-05	getma.org/?cm=msa&ty=f&p=ERBB3_HUMAN&rb=353&re=474&var=R388W	deleterious(0)	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN			YES	ERBB3,missense_variant,p.Arg388Trp,ENST00000267101,NM_001982.3;ERBB3,missense_variant,p.Arg329Trp,ENST00000415288,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,upstream_gene_variant,,ENST00000553131,;ERBB3,upstream_gene_variant,,ENST00000550070,;ERBB3,missense_variant,p.Arg388Trp,ENST00000551085,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,upstream_gene_variant,,ENST00000549205,;ERBB3,downstream_gene_variant,,ENST00000546748,;ERBB3,upstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000549472,;ERBB3,upstream_gene_variant,,ENST00000549644,;ERBB3,downstream_gene_variant,,ENST00000551176,;ERBB3,upstream_gene_variant,,ENST00000550828,;							MODERATE	1162/4029	R388W	ERBB3_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000267101	4.12E-05	CCDS31833.1	0.0011		1	
YLPM1	0	LGGM	GRCh37	14	75248710	75248710	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	98	20	.	.	ENST00000325680.7:c.1964C>A	p.Ser655Tyr	p.S655Y	ENST00000325680	NM_019589.2	655	tCc/tAc	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		118	0.695		HGNC	p.S208Y		YLPM1		SNV							ENST00000549293	protein_coding	getma.org/?cm=var&var=hg19,14,75248710,C,A&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0,Low_complexity_(Seg):seg		S/Y		A	neutral	2088/7017		getma.org/?cm=msa&ty=f&p=YLPM1_HUMAN&rb=402&re=540&var=S460Y		B4DMQ9_HUMAN			YES	YLPM1,missense_variant,p.Ser655Tyr,ENST00000325680,NM_019589.2;YLPM1,missense_variant,p.Ser460Tyr,ENST00000238571,;YLPM1,missense_variant,p.Ser655Tyr,ENST00000552421,;YLPM1,missense_variant,p.Ser208Tyr,ENST00000549293,;							MODERATE	1964/6441	S460Y	YLPM1_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000324463		CCDS45135.1			1	
DCAF6	0	LGGM	GRCh37	1	167962511	167962511	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	30	21	.	.	ENST00000367840.3:c.736C>G	p.Pro246Ala	p.P246A	ENST00000367840	NM_001198956.1	246	Cct/Gct	0	1		UPI000004E54B	0	NA	ENST00000312263		ENSG00000143164	30002		51	1.655		HGNC	p.P246A		DCAF6		SNV							ENST00000367840	protein_coding	getma.org/?cm=var&var=hg19,1,167962511,C,G&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11,SMART_domains:SM00320,Superfamily_domains:SSF50978		P/A		G	low	940/3186		getma.org/?cm=msa&ty=f&p=DCAF6_HUMAN&rb=221&re=420&var=P246A	deleterious(0.04)					DCAF6,missense_variant,p.Pro246Ala,ENST00000367840,NM_001198956.1;DCAF6,missense_variant,p.Pro246Ala,ENST00000367843,NM_018442.3;DCAF6,missense_variant,p.Pro246Ala,ENST00000312263,NM_001017977.2;DCAF6,missense_variant,p.Pro215Ala,ENST00000432587,NM_001198957.1;DCAF6,non_coding_transcript_exon_variant,,ENST00000455334,;DCAF6,downstream_gene_variant,,ENST00000470919,;DCAF6,downstream_gene_variant,,ENST00000491067,;DCAF6,missense_variant,p.Pro246Ala,ENST00000470721,;							MODERATE	736/2583	P246A	DCAF6_HUMAN			Transcript		benign(0.289)	.	ENSP00000311949		CCDS30933.1			1	
PPP6R3	0	LGGM	GRCh37	11	68343442	68343442	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	46	22	.	.	ENST00000393801.3:c.1476C>T	p.Val492=	p.V492=	ENST00000393801	NM_001164160.1	492	gtC/gtT	0	1		UPI00001FADF3	0		ENST00000393800		ENSG00000110075	1173		68			HGNC	p.V492V		PPP6R3		SNV							ENST00000527403	protein_coding			hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634,Pfam_domain:PF04499		V		T		1730/5093				Q9H880_HUMAN,E9PNN8_HUMAN,E9PKG4_HUMAN,E9PK08_HUMAN,E9PJD8_HUMAN				PPP6R3,synonymous_variant,p.=,ENST00000393799,;PPP6R3,synonymous_variant,p.=,ENST00000393800,NM_001164161.1,NM_001164163.1,NM_001164162.1;PPP6R3,synonymous_variant,p.=,ENST00000393801,NM_001164160.1;PPP6R3,synonymous_variant,p.=,ENST00000527403,;PPP6R3,synonymous_variant,p.=,ENST00000265636,NM_018312.4;PPP6R3,synonymous_variant,p.=,ENST00000265637,;PPP6R3,synonymous_variant,p.=,ENST00000524904,;PPP6R3,synonymous_variant,p.=,ENST00000529710,NM_001164164.1;PPP6R3,synonymous_variant,p.=,ENST00000534534,;PPP6R3,synonymous_variant,p.=,ENST00000524845,;PPP6R3,synonymous_variant,p.=,ENST00000534190,;PPP6R3,synonymous_variant,p.=,ENST00000525421,;PPP6R3,downstream_gene_variant,,ENST00000526574,;							LOW	1476/2622		PP6R3_HUMAN			Transcript			.	ENSP00000377389		CCDS53672.1			1	
RGS8	0	LGGM	GRCh37	1	182616010	182616010	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	37	32	.	.	ENST00000258302.4:c.457C>T	p.Leu153=	p.L153=	ENST00000258302	NM_033345.2	153	Ctg/Ttg	0	1		UPI0000044673	0		ENST00000367556		ENSG00000135824	16810		69			HGNC	p.L153L		RGS8		SNV							ENST00000258302	protein_coding			Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF147,SMART_domains:SM00315,Superfamily_domains:SSF48097		L		A		703/843				D6RD36_HUMAN				RGS8,synonymous_variant,p.=,ENST00000483095,;RGS8,synonymous_variant,p.=,ENST00000367557,NM_001102450.1;RGS8,synonymous_variant,p.=,ENST00000367556,;RGS8,synonymous_variant,p.=,ENST00000258302,NM_033345.2;RP11-317P15.5,upstream_gene_variant,,ENST00000570153,;							LOW	403/543		RGS8_HUMAN			Transcript			.	ENSP00000356527		CCDS41443.1			1	
PCDHA4	0	LGGM	GRCh37	5	140187941	140187941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	51	33	.	.	ENST00000530339.1:c.1169C>T	p.Thr390Met	p.T390M	ENST00000530339	NM_018907.2	390	aCg/aTg	0	1	1	UPI00001273CC	0	getma.org/pdb.php?prot=PCDA4_HUMAN&from=355&to=446&var=T390M	ENST00000530339		ENSG00000204967	8670		84	1.615		HGNC	p.T390M	COSM1197721,COSM1197720	PCDHA4		SNV						1,1	ENST00000356878	protein_coding	getma.org/?cm=var&var=hg19,5,140187941,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313		T/M		T	low	1169/5251		getma.org/?cm=msa&ty=f&p=PCDA4_HUMAN&rb=355&re=446&var=T390M	tolerated_low_confidence(0.09)				YES	PCDHA4,missense_variant,p.Thr390Met,ENST00000530339,NM_018907.2;PCDHA4,missense_variant,p.Thr390Met,ENST00000512229,;PCDHA4,missense_variant,p.Thr390Met,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;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;					1,1		MODERATE	1169/2844	T390M	PCDA4_HUMAN			Transcript		benign(0.223)	.	ENSP00000435300		CCDS54916.1			1	
NOC3L	0	LGGM	GRCh37	10	96117955	96117955	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	55	40	.	.	ENST00000371361.3:c.235G>T	p.Glu79Ter	p.E79*	ENST00000371361	NM_022451.9	79	Gaa/Taa	0	1	1	UPI000006DE09	0	NA	ENST00000371361		ENSG00000173145	24034		95	0		HGNC	p.E79X		NOC3L		SNV							ENST00000371361	protein_coding	getma.org/?cm=var&var=hg19,10,96117955,C,A&fts=all		PIRSF_domain:PIRSF028977,hmmpanther:PTHR14428:SF5,hmmpanther:PTHR14428,Low_complexity_(Seg):seg		E/*		A	NA	336/3455		NA					YES	NOC3L,stop_gained,p.Glu79Ter,ENST00000371361,NM_022451.9;NOC3L,stop_gained,p.Glu79Ter,ENST00000371350,;NOC3L,non_coding_transcript_exon_variant,,ENST00000463649,;NOC3L,downstream_gene_variant,,ENST00000461562,;							HIGH	235/2403	E79*	NOC3L_HUMAN			Transcript			.	ENSP00000360412		CCDS7433.1			1	
TMCO4	0	LGGM	GRCh37	1	20073656	20073656	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060236	H060236N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	166	54	.	.	ENST00000294543.6:c.613G>C	p.Gly205Arg	p.G205R	ENST00000294543	NM_181719.4	205	Ggt/Cgt	0	1	1	UPI0000197EC6	0	NA	ENST00000294543		ENSG00000162542	27393		220	3.37		HGNC	p.G205R		TMCO4		SNV							ENST00000375127	protein_coding	getma.org/?cm=var&var=hg19,1,20073656,C,G&fts=all		Pfam_domain:PF05277,hmmpanther:PTHR17920,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		G/R		G	medium	855/2974		getma.org/?cm=msa&ty=f&p=TMCO4_HUMAN&rb=185&re=521&var=G205R	deleterious(0)	Q6ZSC6_HUMAN			YES	TMCO4,missense_variant,p.Gly205Arg,ENST00000294543,NM_181719.4;TMCO4,missense_variant,p.Gly205Arg,ENST00000375122,;TMCO4,missense_variant,p.Gly205Arg,ENST00000375127,;TMCO4,splice_region_variant,,ENST00000489135,;TMCO4,non_coding_transcript_exon_variant,,ENST00000496528,;TMCO4,downstream_gene_variant,,ENST00000462171,;							MODERATE	613/1905	G205R	TMCO4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000294543		CCDS198.1			1	
C1orf27	0	LGGM	GRCh37	1	186375304	186375304	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060236	H060236N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060236N.bam, H060236T.bam	Illumina HiSeq	128	81	.	.	ENST00000287859.6:c.1090G>T	p.Asp364Tyr	p.D364Y	ENST00000287859	NM_017847.5	364	Gat/Tat	0	1	1	UPI00003744FF	0	NA	ENST00000287859		ENSG00000157181	24299		209	2.175		HGNC	p.D364Y		C1orf27		SNV							ENST00000287859	protein_coding	getma.org/?cm=var&var=hg19,1,186375304,G,T&fts=all		Pfam_domain:PF14778,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF474		D/Y		T	medium	1215/3792		getma.org/?cm=msa&ty=f&p=ODR4_HUMAN&rb=201&re=400&var=D364Y	deleterious(0)				YES	C1orf27,missense_variant,p.Asp341Tyr,ENST00000367470,NM_001164245.1;C1orf27,missense_variant,p.Asp364Tyr,ENST00000287859,NM_017847.5;C1orf27,missense_variant,p.Asp332Tyr,ENST00000419367,NM_001164246.1;C1orf27,missense_variant,p.Asp341Tyr,ENST00000432021,;OCLM,downstream_gene_variant,,ENST00000574641,NM_022375.3;C1orf27,non_coding_transcript_exon_variant,,ENST00000478571,;							MODERATE	1090/1365	D364Y	ODR4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000287859		CCDS53448.1			1	
KLHL22	0	LGGM	GRCh37	22	20796455	20796455	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	8	2	.	.	ENST00000328879.4:c.1810G>T	p.Gly604Trp	p.G604W	ENST00000328879	NM_032775.3	604	Ggg/Tgg	0	1	1	UPI0000072F37	0	NA	ENST00000328879		ENSG00000099910	25888		10	0		HGNC	p.G461W		KLHL22		SNV							ENST00000440659	protein_coding	getma.org/?cm=var&var=hg19,22,20796455,C,A&fts=all		hmmpanther:PTHR24412:SF180,hmmpanther:PTHR24412		G/W		A	neutral	1967/2616		getma.org/?cm=msa&ty=f&p=KLH22_HUMAN&rb=580&re=634&var=G604W	deleterious(0.05)	C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN			YES	KLHL22,missense_variant,p.Gly604Trp,ENST00000328879,NM_032775.3;KLHL22,missense_variant,p.Gly461Trp,ENST00000440659,;SCARF2,upstream_gene_variant,,ENST00000405555,NM_182895.2;SCARF2,upstream_gene_variant,,ENST00000266214,NM_153334.4;KLHL22,intron_variant,,ENST00000429594,;							MODERATE	1810/1905	G604W	KLH22_HUMAN			Transcript		benign(0)	.	ENSP00000331682		CCDS13780.1			1	
TMCC2	0	LGGM	GRCh37	1	205210854	205210854	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	6	2	.	.	ENST00000358024.3:c.429C>T	p.Ala143=	p.A143=	ENST00000358024	NM_014858.3	143	gcC/gcT	0	1	1	UPI00002056FC	0		ENST00000358024		ENSG00000133069	24239		8			HGNC	p.A65A		TMCC2		SNV							ENST00000545499	protein_coding			hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9		A		T		818/3738							YES	TMCC2,synonymous_variant,p.=,ENST00000358024,NM_014858.3;TMCC2,synonymous_variant,p.=,ENST00000545499,NM_001242925.1;TMCC2,upstream_gene_variant,,ENST00000330675,;TMCC2,upstream_gene_variant,,ENST00000367159,;RP11-383G10.5,upstream_gene_variant,,ENST00000452599,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;							LOW	429/2130		TMCC2_HUMAN			Transcript			.	ENSP00000350718		CCDS30984.1			1	
SIGLEC1	0	LGGM	GRCh37	20	3680011	3680011	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	8	2	.	.	ENST00000344754.4:c.1624C>T	p.Arg542Cys	p.R542C	ENST00000344754	NM_023068.3	542	Cgc/Tgc	0	1	1	UPI0000049BA6	0	getma.org/pdb.php?prot=SN_HUMAN&from=512&to=594&var=R542C	ENST00000344754		ENSG00000088827	11127		10	1.955		HGNC	p.R542C	rs771683884	SIGLEC1		SNV							ENST00000344754	protein_coding	getma.org/?cm=var&var=hg19,20,3680011,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		R/C		A	medium	1624/6720	1.96E-05	getma.org/?cm=msa&ty=f&p=SN_HUMAN&rb=512&re=594&var=R542C	deleterious(0.04)				YES	SIGLEC1,missense_variant,p.Arg542Cys,ENST00000344754,NM_023068.3;SIGLEC1,missense_variant,p.Arg542Cys,ENST00000202578,;							MODERATE	1624/5130	R542C	SN_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000341141	8.25E-06	CCDS13060.1			1	
LRGUK	0	LGGM	GRCh37	7	133824262	133824262	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	10	2	.	.	ENST00000285928.2:c.479A>C	p.Lys160Thr	p.K160T	ENST00000285928	NM_144648.1	160	aAa/aCa	0	1	1	UPI0000072C76	0	NA	ENST00000285928		ENSG00000155530	21964		12	2.47		HGNC	p.K160T		LRGUK		SNV							ENST00000285928	protein_coding	getma.org/?cm=var&var=hg19,7,133824262,A,C&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13504,PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35,SMART_domains:SM00365,Superfamily_domains:SSF52058		K/T		C	medium	548/3163		getma.org/?cm=msa&ty=f&p=LRGUK_HUMAN&rb=1&re=200&var=K160T	deleterious(0)				YES	LRGUK,missense_variant,p.Lys160Thr,ENST00000285928,NM_144648.1;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;							MODERATE	479/2478	K160T	LRGUK_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000285928		CCDS5830.1			1	
TMEM39B	0	LGGM	GRCh37	1	32557528	32557528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	14	2	.	.	ENST00000336294.5:c.843C>A	p.Asp281Glu	p.D281E	ENST00000336294	NM_018056.2	281	gaC/gaA	0	1	1	UPI0000037B9F	0	NA	ENST00000336294		ENSG00000121775	25510		16	2.525		HGNC	p.D281E		TMEM39B		SNV							ENST00000336294	protein_coding	getma.org/?cm=var&var=hg19,1,32557528,C,A&fts=all		Pfam_domain:PF10271,hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF2		D/E		A	medium	989/1813		getma.org/?cm=msa&ty=f&p=TM39B_HUMAN&rb=46&re=479&var=D281E	deleterious(0.01)	Q9NW51_HUMAN,Q9BT39_HUMAN,B4DQE6_HUMAN			YES	TMEM39B,missense_variant,p.Asp166Glu,ENST00000427288,;TMEM39B,missense_variant,p.Asp281Glu,ENST00000336294,NM_018056.2;TMEM39B,missense_variant,p.Asp82Glu,ENST00000373634,;TMEM39B,3_prime_UTR_variant,,ENST00000456834,;TMEM39B,downstream_gene_variant,,ENST00000438825,;MIR5585,downstream_gene_variant,,ENST00000577515,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000498613,;TMEM39B,downstream_gene_variant,,ENST00000466321,;TMEM39B,3_prime_UTR_variant,,ENST00000441402,;							MODERATE	843/1479	D281E	TM39B_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000338165		CCDS351.2			1	
CROCC	0	LGGM	GRCh37	1	17266510	17266510	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	23	3	.	.	ENST00000375541.5:c.1730C>T	p.Thr577Ile	p.T577I	ENST00000375541	NM_014675.3	577	aCc/aTc	0	1	1	UPI00001AE5A0	0	NA	ENST00000375541		ENSG00000058453	21299		26	1.39		HGNC	p.T577I		CROCC		SNV							ENST00000375541	protein_coding	getma.org/?cm=var&var=hg19,1,17266510,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11		T/I		T	low	1799/6656		getma.org/?cm=msa&ty=f&p=CROCC_HUMAN&rb=550&re=700&var=T577I					YES	CROCC,missense_variant,p.Thr577Ile,ENST00000375541,NM_014675.3;CROCC,missense_variant,p.Thr437Ile,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,;							MODERATE	1730/6054	T577I	CROCC_HUMAN			Transcript		benign(0.012)	.	ENSP00000364691		CCDS30616.1			1	
C14orf142	0	LGGM	GRCh37	14	93673271	93673271	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	24	3	.	.	ENST00000306954.4:c.112G>A	p.Ala38Thr	p.A38T	ENST00000306954	NM_032490.4	38	Gcc/Acc	0	1	1	UPI00001FDA7D	0	NA	ENST00000306954		ENSG00000170270	20356		27	0.895		HGNC	p.A38T		C14orf142		SNV							ENST00000306954	protein_coding	getma.org/?cm=var&var=hg19,14,93673271,C,T&fts=all		Pfam_domain:PF15387		A/T		T	low	169/1154		getma.org/?cm=msa&ty=f&p=CN142_HUMAN&rb=1&re=58&var=A38T	tolerated(0.06)				YES	C14orf142,missense_variant,p.Ala38Thr,ENST00000306954,NM_032490.4;C14orf142,missense_variant,p.Ala36Thr,ENST00000556566,;RP11-371E8.4,intron_variant,,ENST00000557574,;UBR7,upstream_gene_variant,,ENST00000013070,NM_175748.3;UBR7,upstream_gene_variant,,ENST00000416753,;UBR7,upstream_gene_variant,,ENST00000554232,;UBR7,upstream_gene_variant,,ENST00000553857,;UBR7,upstream_gene_variant,,ENST00000556871,;UBR7,upstream_gene_variant,,ENST00000555113,;RP11-371E8.4,intron_variant,,ENST00000557048,;RP11-371E8.4,intron_variant,,ENST00000554824,;UBR7,upstream_gene_variant,,ENST00000553674,;							MODERATE	112/303	A38T	CN142_HUMAN			Transcript		benign(0.359)	.	ENSP00000306320		CCDS41981.1			1	
FLT1	0	LGGM	GRCh37	13	28880861	28880861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	3	.	.	ENST00000282397.4:c.3769C>A	p.Arg1257Ser	p.R1257S	ENST00000282397	NM_002019.4	1257	Cgc/Agc	0	1	1	UPI000013DCDD	0	NA	ENST00000282397		ENSG00000102755	3763		21	1.545		HGNC	p.R475S		FLT1		SNV							ENST00000540678	protein_coding	getma.org/?cm=var&var=hg19,13,28880861,G,T&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126		R/S		T	low	4021/7084		getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=1218&re=1335&var=R1257S	deleterious(0.03)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN			YES	FLT1,missense_variant,p.Arg1257Ser,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Arg475Ser,ENST00000540678,;FLT1,missense_variant,p.Arg280Ser,ENST00000543394,;							MODERATE	3769/4017	R1257S	VGFR1_HUMAN			Transcript		possibly_damaging(0.762)	.	ENSP00000282397		CCDS9330.1			1	
TDRD10	0	LGGM	GRCh37	1	154492827	154492827	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	24	3	.	.	ENST00000368480.3:c.189C>A	p.His63Gln	p.H63Q	ENST00000368480		63	caC/caA	0	1	1	UPI0001533DB6	0	getma.org/pdb.php?prot=TDR10_HUMAN&from=36&to=101&var=H63Q	ENST00000368480		ENSG00000163239	25316		27	0.46		HGNC	p.H63Q		TDRD10		SNV							ENST00000368480	protein_coding	getma.org/?cm=var&var=hg19,1,154492827,C,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928		H/Q		A	neutral	274/1776		getma.org/?cm=msa&ty=f&p=TDR10_HUMAN&rb=36&re=101&var=H63Q	tolerated(0.41)				YES	TDRD10,missense_variant,p.His63Gln,ENST00000368482,NM_182499.3,NM_001098475.1;TDRD10,missense_variant,p.His63Gln,ENST00000368480,;TDRD10,upstream_gene_variant,,ENST00000479937,;							MODERATE	189/1101	H63Q	TDR10_HUMAN			Transcript		benign(0.016)	.	ENSP00000357465		CCDS41406.1			1	
ITGA11	0	LGGM	GRCh37	15	68617525	68617525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	9	3	.	.	ENST00000315757.7:c.2266G>A	p.Asp756Asn	p.D756N	ENST00000315757	NM_001004439.1	756	Gac/Aac	0	1	1	UPI00001FE74D	0	getma.org/pdb.php?prot=ITA11_HUMAN&from=635&to=1072&var=D756N	ENST00000315757		ENSG00000137809	6136		12	0.77		HGNC	p.D756N		ITGA11		SNV							ENST00000315757	protein_coding	getma.org/?cm=var&var=hg19,15,68617525,C,T&fts=all		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,Superfamily_domains:SSF69179		D/N		T	neutral	2353/5001		getma.org/?cm=msa&ty=f&p=ITA11_HUMAN&rb=635&re=1072&var=D756N	tolerated(0.85)				YES	ITGA11,missense_variant,p.Asp756Asn,ENST00000423218,;ITGA11,missense_variant,p.Asp756Asn,ENST00000315757,NM_001004439.1;							MODERATE	2266/3567	D756N	ITA11_HUMAN			Transcript		benign(0.008)	.	ENSP00000327290		CCDS45291.1			1	
ICAM2	0	LGGM	GRCh37	17	62080259	62080259	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	5	3	.	.	ENST00000412356.1:c.676A>G	p.Ile226Val	p.I226V	ENST00000412356	NM_001099786.1	226	Atc/Gtc	0	1	1	UPI000013C87E	0	NA	ENST00000412356		ENSG00000108622	5345		8	0.35		HGNC	p.I226V		ICAM2		SNV							ENST00000579687	protein_coding	getma.org/?cm=var&var=hg19,17,62080259,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF3		I/V		C	neutral	1031/1334		getma.org/?cm=msa&ty=f&p=ICAM2_HUMAN&rb=115&re=275&var=I226V	tolerated(0.2)	Q9NZC6_HUMAN,Q6FHE2_HUMAN,Q59ED3_HUMAN,J3QRQ1_HUMAN,J3QQX6_HUMAN,J3QQR8_HUMAN,J3QKR4_HUMAN			YES	ICAM2,missense_variant,p.Ile226Val,ENST00000412356,NM_001099786.1;ICAM2,missense_variant,p.Ile226Val,ENST00000418105,NM_001099787.1;ICAM2,missense_variant,p.Ile226Val,ENST00000449662,NM_000873.3;ICAM2,missense_variant,p.Ile226Val,ENST00000579687,NM_001099788.1;ICAM2,missense_variant,p.Ile226Val,ENST00000579788,NM_001099789.1;ICAM2,missense_variant,p.Ile125Val,ENST00000578379,;ICAM2,missense_variant,p.Ile202Val,ENST00000578892,;C17orf72,3_prime_UTR_variant,,ENST00000412177,NM_001164257.1,NM_001191030.1;C17orf72,downstream_gene_variant,,ENST00000425164,NM_001191029.1;C17orf72,downstream_gene_variant,,ENST00000579184,;C17orf72,downstream_gene_variant,,ENST00000539996,;C17orf72,downstream_gene_variant,,ENST00000582540,;ICAM2,downstream_gene_variant,,ENST00000578313,;ICAM2,downstream_gene_variant,,ENST00000584084,;ICAM2,downstream_gene_variant,,ENST00000583366,;C17orf72,downstream_gene_variant,,ENST00000577953,NM_001191031.1;C17orf72,downstream_gene_variant,,ENST00000583891,;C17orf72,downstream_gene_variant,,ENST00000580752,;RP11-214C8.2,upstream_gene_variant,,ENST00000580942,;RP11-214C8.2,upstream_gene_variant,,ENST00000577545,;ICAM2,non_coding_transcript_exon_variant,,ENST00000581417,;ICAM2,downstream_gene_variant,,ENST00000584403,;ICAM2,3_prime_UTR_variant,,ENST00000583684,;C17orf72,non_coding_transcript_exon_variant,,ENST00000225760,;C17orf72,non_coding_transcript_exon_variant,,ENST00000582530,;C17orf72,downstream_gene_variant,,ENST00000579222,;ICAM2,downstream_gene_variant,,ENST00000580011,;ICAM2,downstream_gene_variant,,ENST00000583186,;ICAM2,downstream_gene_variant,,ENST00000580389,;							MODERATE	676/828	I226V	ICAM2_HUMAN			Transcript		benign(0.16)	.	ENSP00000415283		CCDS11657.1			1	
USP31	0	LGGM	GRCh37	16	23117603	23117603	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	35	3	.	.	ENST00000219689.7:c.884G>T	p.Cys295Phe	p.C295F	ENST00000219689	NM_020718.3	295	tGt/tTt	0	1	1	UPI0000366B06	0	getma.org/pdb.php?prot=UBP31_HUMAN&from=125&to=762&var=C295F	ENST00000219689		ENSG00000103404	20060		38	3.69		HGNC	p.C295F		USP31		SNV							ENST00000219689	protein_coding	getma.org/?cm=var&var=hg19,16,23117603,C,A&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF400,Superfamily_domains:SSF54001		C/F		A	high	884/10699		getma.org/?cm=msa&ty=f&p=UBP31_HUMAN&rb=125&re=762&var=C295F	deleterious(0.01)				YES	USP31,missense_variant,p.Cys295Phe,ENST00000219689,NM_020718.3;							MODERATE	884/4059	C295F	UBP31_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219689		CCDS10607.1			1	
ZNF264	0	LGGM	GRCh37	19	57723946	57723946	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	35	3	.	.	ENST00000263095.6:c.1481G>A	p.Arg494His	p.R494H	ENST00000263095	NM_003417.4	494	cGc/cAc	0	1	1	UPI000013C33B	0	getma.org/pdb.php?prot=ZN264_HUMAN&from=469&to=494&var=R494H	ENST00000263095		ENSG00000083844	13057		38	1.59		HGNC	p.R494H		ZNF264		SNV							ENST00000263095	protein_coding	getma.org/?cm=var&var=hg19,19,57723946,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF96,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/H		A	low	1895/2673		getma.org/?cm=msa&ty=f&p=ZN264_HUMAN&rb=449&re=514&var=R494H	tolerated(0.15)	M0QXF3_HUMAN			YES	ZNF264,missense_variant,p.Arg494His,ENST00000263095,NM_003417.4;ZNF264,missense_variant,p.Arg494His,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;							MODERATE	1481/1884	R494H	ZN264_HUMAN			Transcript		possibly_damaging(0.646)	.	ENSP00000263095		CCDS33127.1			1	
HCRTR2	0	LGGM	GRCh37	6	55039573	55039573	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	36	3	.	.	ENST00000370862.3:c.188T>C	p.Ile63Thr	p.I63T	ENST00000370862	NM_001526.3	63	aTc/aCc	0	1	1	UPI000013D07A	0	NA	ENST00000370862		ENSG00000137252	4849		39	0.895		HGNC	p.I63T		HCRTR2		SNV							ENST00000370862	protein_coding	getma.org/?cm=var&var=hg19,6,55039573,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/T		C	low	524/1837		getma.org/?cm=msa&ty=f&p=OX2R_HUMAN&rb=1&re=70&var=I63T	tolerated(0.18)	S4X0W3_HUMAN,A6N9G8_HUMAN			YES	HCRTR2,missense_variant,p.Ile63Thr,ENST00000370862,NM_001526.3;							MODERATE	188/1335	I63T	OX2R_HUMAN			Transcript		benign(0.066)	.	ENSP00000359899		CCDS4956.1			1	
ANGPTL1	0	LGGM	GRCh37	1	178822729	178822729	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	46	3	.	.	ENST00000234816.2:c.1017G>T	p.Lys339Asn	p.K339N	ENST00000234816	NM_004673.3	339	aaG/aaT	0	1	1	UPI000004C64E	0	getma.org/pdb.php?prot=ANGL1_HUMAN&from=276&to=490&var=K339N	ENST00000234816		ENSG00000116194	489		49	4.085		HGNC	p.K339N		ANGPTL1		SNV							ENST00000234816	protein_coding	getma.org/?cm=var&var=hg19,1,178822729,C,A&fts=all		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF25,SMART_domains:SM00186,Superfamily_domains:SSF56496		K/N		A	high	1465/3348		getma.org/?cm=msa&ty=f&p=ANGL1_HUMAN&rb=276&re=490&var=K339N	deleterious(0)				YES	ANGPTL1,missense_variant,p.Lys339Asn,ENST00000234816,NM_004673.3;ANGPTL1,missense_variant,p.Lys339Asn,ENST00000367629,;RALGPS2,intron_variant,,ENST00000367635,NM_152663.3;RALGPS2,intron_variant,,ENST00000367634,NM_001286247.1;RALGPS2,intron_variant,,ENST00000324778,;RALGPS2,intron_variant,,ENST00000495034,;							MODERATE	1017/1476	K339N	ANGL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000234816		CCDS1327.1			1	
KRT6A	0	LGGM	GRCh37	12	52886854	52886854	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	28	3	.	.	ENST00000330722.6:c.119G>A	p.Arg40His	p.R40H	ENST00000330722	NM_005554.3	40	cGc/cAc	0	1	1	UPI000013CD4C	0	NA	ENST00000330722		ENSG00000205420	6443	0.000173	31	2.175		HGNC	p.R40H	rs762500774	KRT6A	0.000242	SNV			1	0.000101			ENST00000330722	protein_coding	getma.org/?cm=var&var=hg19,12,52886854,C,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Low_complexity_(Seg):seg		R/H		T	medium	188/2310	1.52E-05	getma.org/?cm=msa&ty=f&p=K2C6A_HUMAN&rb=1&re=161&var=R40H	tolerated(0.11)				YES	KRT6A,missense_variant,p.Arg40His,ENST00000330722,NM_005554.3;KRT6A,upstream_gene_variant,,ENST00000549898,;KRT6A,upstream_gene_variant,,ENST00000549754,;KRT6A,upstream_gene_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;							MODERATE	119/1695	R40H	K2C6A_HUMAN			Transcript		unknown(0)	.	ENSP00000369317	6.59E-05	CCDS41786.1			1	
CUL9	0	LGGM	GRCh37	6	43155851	43155851	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	12	3	.	.	ENST00000252050.4:c.1982C>A	p.Ala661Asp	p.A661D	ENST00000252050	NM_015089.2	661	gCc/gAc	0	1	1	UPI000006F22F	0	NA	ENST00000252050		ENSG00000112659	15982		15	0.805		HGNC	p.A661D		CUL9		SNV							ENST00000252050	protein_coding	getma.org/?cm=var&var=hg19,6,43155851,C,A&fts=all		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771		A/D		A	low	2066/7780		getma.org/?cm=msa&ty=f&p=CUL9_HUMAN&rb=642&re=841&var=A661D	tolerated(0.1)				YES	CUL9,missense_variant,p.Ala661Asp,ENST00000252050,NM_015089.2;CUL9,missense_variant,p.Ala661Asp,ENST00000372647,;CUL9,missense_variant,p.Ala551Asp,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000451399,;CUL9,non_coding_transcript_exon_variant,,ENST00000510282,;							MODERATE	1982/7554	A661D	CUL9_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000252050		CCDS4890.1			1	
ARHGAP39	0	LGGM	GRCh37	8	145770856	145770856	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	11	3	.	.	ENST00000377307.2:c.2298G>T	p.Val766=	p.V766=	ENST00000377307	NM_025251.1	766	gtG/gtT	0	1		UPI000012DDC2	0		ENST00000276826		ENSG00000147799	29351		14			HGNC	p.V766V		ARHGAP39		SNV							ENST00000276826	protein_coding			PROSITE_profiles:PS51016,hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177,Pfam_domain:PF00784,SMART_domains:SM00139		V		A		2500/4697								ARHGAP39,synonymous_variant,p.=,ENST00000276826,;ARHGAP39,synonymous_variant,p.=,ENST00000377307,NM_025251.1;ARHGAP39,synonymous_variant,p.=,ENST00000540274,;ARHGAP39,non_coding_transcript_exon_variant,,ENST00000528810,;AC084125.1,upstream_gene_variant,,ENST00000536320,;							LOW	2298/3252		RHG39_HUMAN			Transcript			.	ENSP00000276826					1	
GADL1	0	LGGM	GRCh37	3	30896221	30896221	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	43	4	.	.	ENST00000282538.5:c.398G>A	p.Arg133Gln	p.R133Q	ENST00000282538	NM_207359.2	133	cGa/cAa	0	1	1	UPI000022BF90	0	getma.org/pdb.php?prot=GADL1_HUMAN&from=77&to=445&var=R133Q	ENST00000282538		ENSG00000144644	27949		47	0.17		HGNC	p.R133Q		GADL1		SNV							ENST00000454381	protein_coding	getma.org/?cm=var&var=hg19,3,30896221,C,T&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF61,Gene3D:3.40.640.10,Pfam_domain:PF00282,Superfamily_domains:SSF53383		R/Q		T	neutral	549/3759		getma.org/?cm=msa&ty=f&p=GADL1_HUMAN&rb=77&re=445&var=R133Q	tolerated(0.74)				YES	GADL1,missense_variant,p.Arg133Gln,ENST00000454381,;GADL1,missense_variant,p.Arg133Gln,ENST00000282538,NM_207359.2;							MODERATE	398/1566	R133Q	GADL1_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000282538		CCDS2649.2			1	
C4orf50	0	LGGM	GRCh37	4	5961248	5961248	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	13	4	.	.	ENST00000531445.1:c.2107C>T	p.Pro703Ser	p.P703S	ENST00000531445		703	Ccc/Tcc	0	1		UPI00001C0FBD	0	NA	ENST00000324058		ENSG00000181215	33766		17	-1.445		HGNC	p.P229S		C4orf50		SNV							ENST00000324058	protein_coding	getma.org/?cm=var&var=hg19,4,5961248,G,A&fts=all		Pfam_domain:PF15030		P/S		A	neutral	775/3178		getma.org/?cm=msa&ty=f&p=CD050_HUMAN&rb=4&re=272&var=P229S	tolerated(0.82)					C4orf50,missense_variant,p.Pro703Ser,ENST00000531445,;C4orf50,missense_variant,p.Pro229Ser,ENST00000324058,;							MODERATE	685/831	P229S	CD050_HUMAN			Transcript		benign(0.001)	.	ENSP00000317287					1	
TNK2	0	LGGM	GRCh37	3	195610057	195610057	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	10	4	.	.	ENST00000381916.2:c.769G>A	p.Gly257Arg	p.G257R	ENST00000381916	NM_001010938.1	257	Ggg/Agg	0	1		UPI000021D19E	0	getma.org/pdb.php?prot=ACK1_HUMAN&from=126&to=385&var=G194R	ENST00000333602		ENSG00000061938	19297		14	3.25		HGNC	p.G194R		TNK2		SNV			1				ENST00000333602	protein_coding	getma.org/?cm=var&var=hg19,3,195610057,C,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112		G/R		T	medium	1198/4552		getma.org/?cm=msa&ty=f&p=ACK1_HUMAN&rb=126&re=385&var=G194R	deleterious(0)	C9JDG3_HUMAN				TNK2,missense_variant,p.Gly194Arg,ENST00000333602,NM_005781.4;TNK2,missense_variant,p.Gly194Arg,ENST00000392400,;TNK2,missense_variant,p.Gly226Arg,ENST00000428187,;TNK2,missense_variant,p.Gly257Arg,ENST00000381916,NM_001010938.1;TNK2,missense_variant,p.Gly194Arg,ENST00000316664,;TNK2,missense_variant,p.Gly119Arg,ENST00000438207,;TNK2,downstream_gene_variant,,ENST00000433111,;TNK2,downstream_gene_variant,,ENST00000427576,;TNK2,non_coding_transcript_exon_variant,,ENST00000468819,;TNK2,intron_variant,,ENST00000486523,;TNK2,missense_variant,p.Gly194Arg,ENST00000439230,;TNK2,missense_variant,p.Gly116Arg,ENST00000430929,;TNK2,non_coding_transcript_exon_variant,,ENST00000481865,;TNK2,non_coding_transcript_exon_variant,,ENST00000464041,;TNK2,upstream_gene_variant,,ENST00000489628,;TNK2,downstream_gene_variant,,ENST00000447060,;							MODERATE	580/3117	G194R	ACK1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000329425		CCDS33928.1			1	
EPHA8	0	LGGM	GRCh37	1	22915745	22915745	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	14	4	.	.	ENST00000166244.3:c.1315+46C>G		*439*	ENST00000166244	NM_020526.3			0	1	1	UPI000012A07B	0		ENST00000166244		ENSG00000070886	3391		18			HGNC	p.S454C		EPHA8		SNV							ENST00000374644	protein_coding							G		-/4943							YES	EPHA8,missense_variant,p.Ser454Cys,ENST00000374644,NM_001006943.1;EPHA8,missense_variant,p.Ser454Cys,ENST00000538803,;EPHA8,intron_variant,,ENST00000166244,NM_020526.3;							MODIFIER	-/3018		EPHA8_HUMAN			Transcript			.	ENSP00000166244		CCDS225.1			1	
GABRA5	0	LGGM	GRCh37	15	27193253	27193253	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	82	4	.	.	ENST00000335625.5:c.1262G>A	p.Ser421Asn	p.S421N	ENST00000335625	NM_000810.3	421	aGt/aAt	0	1	1	UPI000002D731	0	getma.org/pdb.php?prot=GBRA5_HUMAN&from=359&to=445&var=S421N	ENST00000335625		ENSG00000186297	4079		86	0.975		HGNC	p.S421N		GABRA5		SNV							ENST00000335625	protein_coding	getma.org/?cm=var&var=hg19,15,27193253,G,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,TIGRFAM_domain:TIGR00860,Gene3D:1.20.58.390,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR01079		S/N		A	low	2150/3251		getma.org/?cm=msa&ty=f&p=GBRA5_HUMAN&rb=359&re=445&var=S421N	tolerated(0.09)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN			YES	GABRA5,missense_variant,p.Ser421Asn,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Ser421Asn,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Ser421Asn,ENST00000355395,;							MODERATE	1262/1389	S421N	GBRA5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000335592		CCDS45194.1			1	
SYBU	0	LGGM	GRCh37	8	110631215	110631215	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	50	4	.	.	ENST00000422135.1:c.283G>A	p.Asp95Asn	p.D95N	ENST00000422135	NM_001099744.1	95	Gat/Aat	0	1		UPI00000407AB	0	NA	ENST00000276646		ENSG00000147642	26011		54	1.995		HGNC	p.D100N		SYBU		SNV							ENST00000424158	protein_coding	getma.org/?cm=var&var=hg19,8,110631215,C,T&fts=all		hmmpanther:PTHR16208,hmmpanther:PTHR16208:SF4		D/N		T	medium	441/2870		getma.org/?cm=msa&ty=f&p=SYBU_HUMAN&rb=3&re=661&var=D95N	tolerated(0.07)	E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN				SYBU,missense_variant,p.Asp92Asn,ENST00000399066,NM_001099756.1;SYBU,missense_variant,p.Asp94Asn,ENST00000533895,;SYBU,missense_variant,p.Asp95Asn,ENST00000422135,NM_001099744.1;SYBU,missense_variant,p.Asp94Asn,ENST00000419099,NM_001099743.1;SYBU,missense_variant,p.Asp95Asn,ENST00000433638,NM_017786.5,NM_001099750.1;SYBU,missense_variant,p.Asp95Asn,ENST00000440310,NM_001099752.1,NM_001099751.1;SYBU,missense_variant,p.Asp100Asn,ENST00000424158,;SYBU,missense_variant,p.Asp94Asn,ENST00000528647,;SYBU,missense_variant,p.Asp95Asn,ENST00000408908,NM_001099748.1,NM_001099747.1;SYBU,missense_variant,p.Asp94Asn,ENST00000446070,;SYBU,missense_variant,p.Asp95Asn,ENST00000276646,NM_001099754.1,NM_001099753.1;SYBU,missense_variant,p.Asp27Asn,ENST00000532779,;SYBU,missense_variant,p.Asp95Asn,ENST00000533171,NM_001099745.1;SYBU,missense_variant,p.Asp94Asn,ENST00000529190,;SYBU,missense_variant,p.Asp95Asn,ENST00000524720,;SYBU,missense_variant,p.Asp95Asn,ENST00000534501,;SYBU,missense_variant,p.Asp94Asn,ENST00000534184,;SYBU,missense_variant,p.Asp94Asn,ENST00000533821,;SYBU,missense_variant,p.Asp95Asn,ENST00000528716,;SYBU,5_prime_UTR_variant,,ENST00000408889,NM_001099746.1;SYBU,5_prime_UTR_variant,,ENST00000533065,NM_001099755.1;SYBU,5_prime_UTR_variant,,ENST00000528331,NM_001099749.1;SYBU,5_prime_UTR_variant,,ENST00000532189,;SYBU,5_prime_UTR_variant,,ENST00000528045,;SYBU,5_prime_UTR_variant,,ENST00000528569,;SYBU,5_prime_UTR_variant,,ENST00000530841,;SYBU,5_prime_UTR_variant,,ENST00000531230,;SYBU,non_coding_transcript_exon_variant,,ENST00000527664,;SYBU,non_coding_transcript_exon_variant,,ENST00000531284,;							MODERATE	283/1992	D95N	SYBU_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000276646		CCDS47912.1			1	
BCR	0	LGGM	GRCh37	22	23524032	23524032	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	9	4	.	.	ENST00000305877.8:c.885G>T	p.Pro295=	p.P295=	ENST00000305877	NM_004327.3	295	ccG/ccT	0	1	1	UPI000016A088	0		ENST00000305877		ENSG00000186716	1014		13			HGNC	p.P295P		BCR		SNV			1				ENST00000398512	protein_coding			hmmpanther:PTHR23182:SF3,hmmpanther:PTHR23182		P		T		1636/7082							YES	BCR,synonymous_variant,p.=,ENST00000305877,NM_004327.3;BCR,synonymous_variant,p.=,ENST00000359540,NM_021574.2;BCR,synonymous_variant,p.=,ENST00000398512,;BCR,intron_variant,,ENST00000479188,;BCRP8,upstream_gene_variant,,ENST00000593306,;BCRP8,upstream_gene_variant,,ENST00000412037,;							LOW	885/3816		BCR_HUMAN			Transcript			.	ENSP00000303507		CCDS13806.1			1	
ANKRD35	0	LGGM	GRCh37	1	145562875	145562875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	5	4	.	.	ENST00000355594.4:c.2563G>A	p.Ala855Thr	p.A855T	ENST00000355594	NM_144698.4	855	Gct/Act	0	1	1	UPI000013E1CE	0	NA	ENST00000355594		ENSG00000198483	26323		9	1.87		HGNC	p.A855T	rs782234906	ANKRD35		SNV							ENST00000355594	protein_coding	getma.org/?cm=var&var=hg19,1,145562875,G,A&fts=all		hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF14		A/T		A	low	2650/3342	1.80E-05	getma.org/?cm=msa&ty=f&p=ANR35_HUMAN&rb=280&re=999&var=A855T	tolerated(0.2)				YES	ANKRD35,missense_variant,p.Ala855Thr,ENST00000355594,NM_144698.4;ANKRD35,downstream_gene_variant,,ENST00000544626,;							MODERATE	2563/3006	A855T	ANR35_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000347802	8.25E-06	CCDS919.1			1	
NAV2	0	LGGM	GRCh37	11	19735485	19735485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	6	4	.	.	ENST00000396087.3:c.244G>T	p.Val82Leu	p.V82L	ENST00000396087	NM_001244963.1	82	Gtg/Ttg	0	1	1	UPI00001E0580	0	NA	ENST00000396087		ENSG00000166833	15997		10	0.665		HGNC	p.V82L		NAV2		SNV							ENST00000396085	protein_coding	getma.org/?cm=var&var=hg19,11,19735485,G,T&fts=all		Superfamily_domains:SSF47576		V/L		T	neutral	343/7882		getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=43&re=117&var=V82L	tolerated_low_confidence(0.21)				YES	NAV2,missense_variant,p.Val82Leu,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Val82Leu,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Val82Leu,ENST00000396087,NM_001244963.1;NAV2,intron_variant,,ENST00000360655,NM_001111018.1;RP11-359E10.1,upstream_gene_variant,,ENST00000603468,;							MODERATE	244/7467	V82L	NAV2_HUMAN			Transcript		benign(0)	.	ENSP00000379396		CCDS58126.1			1	
SENP3	0	LGGM	GRCh37	17	7466609	7466609	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	9	4	.	.	ENST00000429205.2:c.216C>T	p.Ala72=	p.A72=	ENST00000429205		72	gcC/gcT	0	1		UPI000013E126	0		ENST00000321337		ENSG00000161956	17862		13			HGNC	p.A72A		SENP3		SNV							ENST00000321337	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF10		A		T		536/2429				J3KNH7_HUMAN				SENP3,synonymous_variant,p.=,ENST00000321337,NM_015670.5;SENP3,synonymous_variant,p.=,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-EIF4A1,non_coding_transcript_exon_variant,,ENST00000579777,;SENP3,non_coding_transcript_exon_variant,,ENST00000578868,;SENP3,upstream_gene_variant,,ENST00000580042,;SENP3,upstream_gene_variant,,ENST00000578813,;SENP3,upstream_gene_variant,,ENST00000583277,;SENP3,upstream_gene_variant,,ENST00000580997,;							LOW	216/1722					Transcript			.	ENSP00000314029					1	
NRXN1	0	LGGM	GRCh37	2	51254966	51254966	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	5	.	.	ENST00000404971.1:c.446T>A	p.Val149Glu	p.V149E	ENST00000404971	NM_001135659.1	149	gTg/gAg	0	1		UPI0000130A9D	0	getma.org/pdb.php?prot=NRX1A_HUMAN&from=58&to=192&var=V149E	ENST00000406316		ENSG00000179915	8008		24	2.215		HGNC	p.V149E		NRXN1		SNV			1				ENST00000401669	protein_coding	getma.org/?cm=var&var=hg19,2,51254966,A,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899		V/E		T	medium	1923/7505		getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=58&re=192&var=V149E	deleterious(0.01)	Q08AH0_HUMAN				NRXN1,missense_variant,p.Val149Glu,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Val149Glu,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Val149Glu,ENST00000401669,;NRXN1,missense_variant,p.Val149Glu,ENST00000405472,;NRXN1,missense_variant,p.Val149Glu,ENST00000405581,;NRXN1,missense_variant,p.Val149Glu,ENST00000402717,;NRXN1,missense_variant,p.Val149Glu,ENST00000406859,;AC007682.1,upstream_gene_variant,,ENST00000440698,;NRXN1,upstream_gene_variant,,ENST00000496792,;							MODERATE	446/4434	V149E	NRX1A_HUMAN			Transcript		benign(0)	.	ENSP00000384311		CCDS54360.1			1	
CSMD3	0	LGGM	GRCh37	8	113301744	113301744	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	26	5	.	.	ENST00000297405.5:c.8998G>A	p.Val3000Ile	p.V3000I	ENST00000297405	NM_198123.1	3000	Gtt/Att	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=2995&to=3048&var=V3000I	ENST00000297405		ENSG00000164796	19291		31	1.295		HGNC	p.V2831I	rs2193430	CSMD3		SNV	G:0.0279			9.88E-05			ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113301744,C,T&fts=all	G:0.0386	Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535		V/I	G:0.0001	T	low	9243/13212	1.55E-05	getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=2995&re=3048&var=V3000I	tolerated(0.34)		G:0.0029	G:0	YES	CSMD3,missense_variant,p.Val3000Ile,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Val2960Ile,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Val2930Ile,ENST00000352409,;CSMD3,missense_variant,p.Val2831Ile,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Val2270Ile,ENST00000339701,;		G:0.0106					MODERATE	8998/11124	V3000I	CSMD3_HUMAN	0.000155	G:0	Transcript		benign(0.001)	.	ENSP00000297405	2.47E-05	CCDS6315.1		G:0	1	
ZIM3	0	LGGM	GRCh37	19	57649897	57649897	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	31	5	.	.	ENST00000269834.1:c.85C>G	p.Gln29Glu	p.Q29E	ENST00000269834	NM_052882.1	29	Cag/Gag	0	1	1	UPI000013C3E0	0	getma.org/pdb.php?prot=ZIM3_HUMAN&from=8&to=48&var=Q29E	ENST00000269834		ENSG00000141946	16366		36	2.94		HGNC	p.Q29E		ZIM3		SNV							ENST00000269834	protein_coding	getma.org/?cm=var&var=hg19,19,57649897,G,C&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF30,SMART_domains:SM00349		Q/E		C	medium	471/2627		getma.org/?cm=msa&ty=f&p=ZIM3_HUMAN&rb=8&re=48&var=Q29E	deleterious(0.02)				YES	ZIM3,missense_variant,p.Gln29Glu,ENST00000269834,NM_052882.1;U3,upstream_gene_variant,,ENST00000516874,;							MODERATE	85/1419	Q29E	ZIM3_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000269834		CCDS33125.1			1	
ARAF	0	LGGM	GRCh37	X	47428153	47428153	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	12	5	.	.	ENST00000377045.4:c.1113C>A	p.Gly371=	p.G371=	ENST00000377045	NM_001654.4	371	ggC/ggA	0	1	1	UPI0000000C41	0		ENST00000377045		ENSG00000078061	646		17			HGNC	p.G371G		ARAF		SNV							ENST00000377045	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF43,hmmpanther:PTHR23257,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00220,Superfamily_domains:SSF56112		G		A		1307/2458				Q96II5_HUMAN			YES	ARAF,synonymous_variant,p.=,ENST00000377045,NM_001654.4,NM_001256196.1;ARAF,3_prime_UTR_variant,,ENST00000290277,;SYN1,downstream_gene_variant,,ENST00000295987,NM_006950.3;SYN1,downstream_gene_variant,,ENST00000340666,NM_133499.2;ARAF,downstream_gene_variant,,ENST00000377039,NM_001256197.1;ARAF,upstream_gene_variant,,ENST00000470206,;ARAF,upstream_gene_variant,,ENST00000469505,;ARAF,downstream_gene_variant,,ENST00000489496,;							LOW	1113/1821		ARAF_HUMAN			Transcript			.	ENSP00000366244		CCDS35232.1			1	
ZC4H2	0	LGGM	GRCh37	X	64137760	64137760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	5	5	.	.	ENST00000374839.3:c.578A>G	p.His193Arg	p.H193R	ENST00000374839	NM_018684.3	193	cAc/cGc	0	1	1	UPI0000025CAA	0		ENST00000374839		ENSG00000126970	24931		10			HGNC	p.H188R		ZC4H2		SNV			1				ENST00000545618	protein_coding			Pfam_domain:PF10146,hmmpanther:PTHR31058		H/R		C		685/2184			deleterious(0.01)				YES	ZC4H2,missense_variant,p.His188Arg,ENST00000545618,;ZC4H2,missense_variant,p.His170Arg,ENST00000337990,NM_001178032.2,NM_001243804.1;ZC4H2,missense_variant,p.His193Arg,ENST00000374839,NM_018684.3;ZC4H2,missense_variant,p.Thr139Ala,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,non_coding_transcript_exon_variant,,ENST00000488406,;							MODERATE	578/675		ZC4H2_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000363972		CCDS14380.1			1	
PCDP1	0	LGGM	GRCh37	2	120383225	120383225	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	16	5	.	.	ENST00000413369.3:c.1477C>T	p.Leu493=	p.L493=	ENST00000413369	NM_001271049.1	493	Ctg/Ttg	0	1	1	UPI0001D322F9	0		ENST00000413369		ENSG00000163075			21			Uniprot_gn	p.L493L		PCDP1		SNV							ENST00000413369	protein_coding					L		T		1564/2801							YES	PCDP1,synonymous_variant,p.=,ENST00000443972,;PCDP1,synonymous_variant,p.=,ENST00000602047,;PCDP1,synonymous_variant,p.=,ENST00000413369,NM_001271049.1;PCDP1,synonymous_variant,p.=,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,;							LOW	1477/2523		PCDP1_HUMAN			Transcript			.	ENSP00000393222		CCDS33282.2			1	
GRIN2B	0	LGGM	GRCh37	12	13716532	13716532	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	31	5	.	.	ENST00000609686.1:c.3640T>G	p.Phe1214Val	p.F1214V	ENST00000609686	NM_000834.3	1214	Ttc/Gtc	0	1	1	UPI000013026C	0	NA	ENST00000609686		ENSG00000273079	4586		36	0.345		HGNC	p.F1214V		GRIN2B		SNV			1				ENST00000279593	protein_coding	getma.org/?cm=var&var=hg19,12,13716532,A,C&fts=all		Pfam_domain:PF10565		F/V		C	neutral	3850/27217		getma.org/?cm=msa&ty=f&p=NMDE2_HUMAN&rb=840&re=1484&var=F1214V	tolerated(0.1)	Q59HA9_HUMAN			YES	GRIN2B,missense_variant,p.Phe1214Val,ENST00000609686,NM_000834.3;							MODERATE	3640/4455	F1214V	NMDE2_HUMAN			Transcript		benign(0.078)	.	ENSP00000477455		CCDS8662.1			1	
TLL2	0	LGGM	GRCh37	10	98192654	98192654	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	6	.	.	ENST00000357947.3:c.430T>C	p.Ser144Pro	p.S144P	ENST00000357947	NM_012465.3	144	Tct/Cct	0	1	1	UPI0000073AEE	0	NA	ENST00000357947		ENSG00000095587	11844		25	1.01		HGNC	p.S144P		TLL2		SNV							ENST00000357947	protein_coding	getma.org/?cm=var&var=hg19,10,98192654,A,G&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,PIRSF_domain:PIRSF001199		S/P		G	low	656/6756		getma.org/?cm=msa&ty=f&p=TLL2_HUMAN&rb=101&re=186&var=S144P	tolerated(0.14)				YES	TLL2,missense_variant,p.Ser144Pro,ENST00000357947,NM_012465.3;TLL2,intron_variant,,ENST00000469598,;							MODERATE	430/3048	S144P	TLL2_HUMAN			Transcript		benign(0.003)	.	ENSP00000350630		CCDS7449.1			1	
SLC8A1	0	LGGM	GRCh37	2	40656070	40656070	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	6	.	.	ENST00000403092.1:c.1351G>A	p.Ala451Thr	p.A451T	ENST00000403092		451	Gca/Aca	0	1		UPI000012FC46	0	getma.org/pdb.php?prot=NAC1_HUMAN&from=396&to=496&var=A451T	ENST00000332839		ENSG00000183023	11068		24	4.395		HGNC	p.A451T		SLC8A1		SNV							ENST00000402441	protein_coding	getma.org/?cm=var&var=hg19,2,40656070,C,T&fts=all		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,SMART_domains:SM00237,Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845		A/T		T	high	1351/2922		getma.org/?cm=msa&ty=f&p=NAC1_HUMAN&rb=396&re=496&var=A451T	deleterious(0)	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN				SLC8A1,missense_variant,p.Ala451Thr,ENST00000406785,;SLC8A1,missense_variant,p.Ala451Thr,ENST00000542756,;SLC8A1,missense_variant,p.Ala451Thr,ENST00000403092,;SLC8A1,missense_variant,p.Ala451Thr,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Ala451Thr,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Ala451Thr,ENST00000405269,;SLC8A1,missense_variant,p.Ala451Thr,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Ala451Thr,ENST00000408028,NM_001252624.1;SLC8A1,missense_variant,p.Ala451Thr,ENST00000406391,;SLC8A1,missense_variant,p.Ala451Thr,ENST00000542024,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Ala448Thr,ENST00000407929,;							MODERATE	1351/2922	A451T	NAC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332931		CCDS1806.1			1	
VSIG8	0	LGGM	GRCh37	1	159828613	159828613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	6	.	.	ENST00000368100.1:c.139G>T	p.Val47Phe	p.V47F	ENST00000368100	NM_001013661.1	47	Gtc/Ttc	0	1	1	UPI0000458A8F	0	getma.org/pdb.php?prot=VSIG8_HUMAN&from=22&to=143&var=V47F	ENST00000368100		ENSG00000243284	32063		25	0		HGNC	p.V47F		VSIG8		SNV							ENST00000368100	protein_coding	getma.org/?cm=var&var=hg19,1,159828613,C,A&fts=all		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/F		A	neutral	275/1818		getma.org/?cm=msa&ty=f&p=VSIG8_HUMAN&rb=22&re=143&var=V47F	deleterious(0.05)				YES	VSIG8,missense_variant,p.Val47Phe,ENST00000368100,NM_001013661.1;C1orf204,upstream_gene_variant,,ENST00000368102,NM_001134233.1;C1orf204,upstream_gene_variant,,ENST00000491974,;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,intron_variant,,ENST00000543372,;RP11-190A12.7,intron_variant,,ENST00000536779,;							MODERATE	139/1245	V47F	VSIG8_HUMAN			Transcript		benign(0.355)	.	ENSP00000357080		CCDS30913.1			1	
TIAL1	0	LGGM	GRCh37	10	121338320	121338320	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	20	6	.	.	ENST00000369093.2:c.525G>T	p.Met175Ile	p.M175I	ENST00000369093	NM_001033925.1	175	atG/atT	0	1		UPI0000136F4F	0	getma.org/pdb.php?prot=TIAR_HUMAN&from=99&to=169&var=M158I	ENST00000436547		ENSG00000151923	11804		26	2.195		HGNC	p.M158I		TIAL1		SNV							ENST00000436547	protein_coding	getma.org/?cm=var&var=hg19,10,121338320,C,A&fts=all		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		M/I		A	medium	519/1401		getma.org/?cm=msa&ty=f&p=TIAR_HUMAN&rb=99&re=169&var=M158I	deleterious(0.02)	Q2TSD2_HUMAN,E7ETJ9_HUMAN,A6NKZ9_HUMAN				TIAL1,missense_variant,p.Met35Ile,ENST00000369092,;TIAL1,missense_variant,p.Met175Ile,ENST00000369093,NM_001033925.1;TIAL1,missense_variant,p.Met158Ile,ENST00000436547,NM_003252.3;TIAL1,missense_variant,p.Met119Ile,ENST00000412524,;TIAL1,downstream_gene_variant,,ENST00000369086,;TIAL1,non_coding_transcript_exon_variant,,ENST00000495821,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470635,;TIAL1,upstream_gene_variant,,ENST00000463089,;TIAL1,downstream_gene_variant,,ENST00000462373,;TIAL1,3_prime_UTR_variant,,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,non_coding_transcript_exon_variant,,ENST00000369087,;							MODERATE	474/1128	M158I	TIAR_HUMAN			Transcript		possibly_damaging(0.563)	.	ENSP00000394902		CCDS7613.1			1	
RASA4DP	0	LGGM	GRCh37	7	102319101	102319101	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	26	6	.	.				ENST00000460726				0	1	1		0		ENST00000460726		ENSG00000233297	44226		32		3182	HGNC	p.R68K		RASA4DP		SNV							ENST00000542270	unprocessed_pseudogene							T		-/1199							YES	RASA4DP,downstream_gene_variant,,ENST00000460726,;							MODIFIER						Transcript			.						1	
SMARCA5	0	LGGM	GRCh37	4	144457756	144457756	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	6	.	.	ENST00000283131.3:c.1420A>G	p.Thr474Ala	p.T474A	ENST00000283131	NM_003601.3	474	Aca/Gca	0	1	1	UPI000006E693	0	NA	ENST00000283131		ENSG00000153147	11101		24	2.655		HGNC	p.T474A		SMARCA5		SNV			1				ENST00000283131	protein_coding	getma.org/?cm=var&var=hg19,4,144457756,A,G&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF575,Superfamily_domains:SSF52540		T/A		G	medium	1882/7923		getma.org/?cm=msa&ty=f&p=SMCA5_HUMAN&rb=464&re=516&var=T474A	deleterious(0)	Q4W5H1_HUMAN,Q4W5G3_HUMAN			YES	SMARCA5,missense_variant,p.Thr474Ala,ENST00000283131,NM_003601.3;							MODERATE	1420/3159	T474A	SMCA5_HUMAN			Transcript		benign(0.206)	.	ENSP00000283131		CCDS3761.1			1	
CNTN3	0	LGGM	GRCh37	3	74420524	74420524	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	15	7	.	.	ENST00000263665.6:c.481G>T	p.Glu161Ter	p.E161*	ENST00000263665	NM_020872.1	161	Gaa/Taa	0	1	1	UPI00001A7974	0	NA	ENST00000263665		ENSG00000113805	2173		22	0		HGNC	p.E161X		CNTN3		SNV							ENST00000263665	protein_coding	getma.org/?cm=var&var=hg19,3,74420524,C,A&fts=all		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		E/*		A	NA	509/4948		NA					YES	CNTN3,stop_gained,p.Glu161Ter,ENST00000263665,NM_020872.1;							HIGH	481/3087	E161*	CNTN3_HUMAN			Transcript			.	ENSP00000263665		CCDS33790.1			1	
HEPHL1	0	LGGM	GRCh37	11	93826764	93826764	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	78	7	.	.	ENST00000315765.9:c.2392A>G	p.Ile798Val	p.I798V	ENST00000315765	NM_001098672.1	798	Atc/Gtc	0	1	1	UPI0000237563	0	getma.org/pdb.php?prot=HPHL1_HUMAN&from=731&to=907&var=I798V	ENST00000315765		ENSG00000181333	30477		85	0.975		HGNC	p.I798V		HEPHL1		SNV							ENST00000315765	protein_coding	getma.org/?cm=var&var=hg19,11,93826764,A,G&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Gene3D:2.60.40.420,Superfamily_domains:SSF49503		I/V		G	low	2400/5345		getma.org/?cm=msa&ty=f&p=HPHL1_HUMAN&rb=731&re=907&var=I798V	tolerated(0.31)				YES	HEPHL1,missense_variant,p.Ile798Val,ENST00000315765,NM_001098672.1;							MODERATE	2392/3480	I798V	HPHL1_HUMAN			Transcript		benign(0.346)	.	ENSP00000313699		CCDS44710.1			1	
TIAL1	0	LGGM	GRCh37	10	121338319	121338319	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	20	7	.	.	ENST00000369093.2:c.526G>T	p.Gly176Cys	p.G176C	ENST00000369093	NM_001033925.1	176	Ggc/Tgc	0	1		UPI0000136F4F	0	getma.org/pdb.php?prot=TIAR_HUMAN&from=99&to=169&var=G159C	ENST00000436547		ENSG00000151923	11804		27	0.845		HGNC	p.G159C		TIAL1		SNV							ENST00000436547	protein_coding	getma.org/?cm=var&var=hg19,10,121338319,C,A&fts=all		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		G/C		A	low	520/1401		getma.org/?cm=msa&ty=f&p=TIAR_HUMAN&rb=99&re=169&var=G159C	deleterious(0.01)	Q2TSD2_HUMAN,E7ETJ9_HUMAN,A6NKZ9_HUMAN				TIAL1,missense_variant,p.Gly36Cys,ENST00000369092,;TIAL1,missense_variant,p.Gly176Cys,ENST00000369093,NM_001033925.1;TIAL1,missense_variant,p.Gly159Cys,ENST00000436547,NM_003252.3;TIAL1,missense_variant,p.Gly120Cys,ENST00000412524,;TIAL1,downstream_gene_variant,,ENST00000369086,;TIAL1,non_coding_transcript_exon_variant,,ENST00000495821,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470635,;TIAL1,upstream_gene_variant,,ENST00000463089,;TIAL1,downstream_gene_variant,,ENST00000462373,;TIAL1,3_prime_UTR_variant,,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,non_coding_transcript_exon_variant,,ENST00000369087,;							MODERATE	475/1128	G159C	TIAR_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000394902		CCDS7613.1			1	
PSMD6	0	LGGM	GRCh37	3	64004301	64004301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	24	7	.	.	ENST00000295901.4:c.800G>T	p.Arg267Leu	p.R267L	ENST00000295901	NM_014814.2	267	cGt/cTt	0	1	1	UPI0000132787	0	NA	ENST00000295901		ENSG00000163636	9564		31	1.87		HGNC	p.R267L		PSMD6		SNV							ENST00000295901	protein_coding	getma.org/?cm=var&var=hg19,3,64004301,C,A&fts=all		hmmpanther:PTHR14145:SF1,hmmpanther:PTHR14145,Pfam_domain:PF01399		R/L		A	low	941/1430		getma.org/?cm=msa&ty=f&p=PSMD6_HUMAN&rb=254&re=358&var=R267L	tolerated(0.1)				YES	PSMD6,missense_variant,p.Arg320Leu,ENST00000492933,NM_001271779.1;PSMD6,missense_variant,p.Arg267Leu,ENST00000295901,NM_014814.2;PSMD6,missense_variant,p.Arg229Leu,ENST00000394431,NM_001271780.1;PSMD6,missense_variant,p.Arg228Leu,ENST00000482510,NM_001271781.1;PSMD6,missense_variant,p.Arg115Leu,ENST00000480205,;PSMD6,downstream_gene_variant,,ENST00000497323,;PSMD6,downstream_gene_variant,,ENST00000478185,;RP11-245J9.4,downstream_gene_variant,,ENST00000462717,;RP11-245J9.6,upstream_gene_variant,,ENST00000605919,;PSMD6,non_coding_transcript_exon_variant,,ENST00000476464,;PSMD6,non_coding_transcript_exon_variant,,ENST00000497315,;PSMD6,upstream_gene_variant,,ENST00000467853,;PSMD6,downstream_gene_variant,,ENST00000475036,;							MODERATE	800/1170	R267L	PSMD6_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000295901		CCDS2901.1			1	
CLEC4M	0	LGGM	GRCh37	19	7831024	7831024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	85	8	.	.	ENST00000327325.5:c.715G>A	p.Gly239Ser	p.G239S	ENST00000327325	NM_001144909.1	239	Ggt/Agt	0	1	1	UPI0000073C48	0	getma.org/pdb.php?prot=CLC4M_HUMAN&from=201&to=284&var=G239S	ENST00000327325		ENSG00000104938	13523		93	0.895		HGNC	p.G227S		CLEC4M		SNV							ENST00000394122	protein_coding	getma.org/?cm=var&var=hg19,19,7831024,G,A&fts=all		hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF200,Superfamily_domains:SSF56436		G/S		A	low	833/1935		getma.org/?cm=msa&ty=f&p=CLC4M_HUMAN&rb=201&re=284&var=G239S	tolerated(0.61)				YES	CLEC4M,missense_variant,p.Gly239Ser,ENST00000327325,NM_001144909.1,NM_014257.4;CLEC4M,missense_variant,p.Gly227Ser,ENST00000394122,;CLEC4M,missense_variant,p.Gly217Ser,ENST00000248228,NM_001144910.1,NM_001144905.1;CLEC4M,missense_variant,p.Gly239Ser,ENST00000357361,NM_001144908.1;CLEC4M,missense_variant,p.Gly188Ser,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Glu195Lys,ENST00000359059,NM_001144906.1,NM_001144907.1;CLEC4M,missense_variant,p.Gly211Ser,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Gly211Ser,ENST00000595751,;CLEC4M,intron_variant,,ENST00000596707,;CLEC4M,intron_variant,,ENST00000597522,;CLEC4M,intron_variant,,ENST00000595496,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,upstream_gene_variant,,ENST00000602143,;							MODERATE	715/1200	G239S	CLC4M_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000316228		CCDS12187.1			1	
USP34	0	LGGM	GRCh37	2	61622137	61622137	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	6	8	.	.	ENST00000398571.2:c.604G>T	p.Asp202Tyr	p.D202Y	ENST00000398571	NM_014709.3	202	Gat/Tat	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		14	1.75		HGNC	p.D202Y		USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61622137,C,A&fts=all				D/Y		A	low	681/11357		getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=201&re=400&var=D202Y	deleterious(0)				YES	USP34,missense_variant,p.Asp202Tyr,ENST00000398571,NM_014709.3;USP34,missense_variant,p.Arg44Ser,ENST00000453133,;							MODERATE	604/10641	D202Y	UBP34_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000381577		CCDS42686.1			1	
ZBTB49	0	LGGM	GRCh37	4	4304644	4304644	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	8	.	.	ENST00000337872.4:c.1081G>T	p.Val361Phe	p.V361F	ENST00000337872	NM_145291.3	361	Gtc/Ttc	0	1	1	UPI000022C559	0	NA	ENST00000337872		ENSG00000168826	19883		26	0		HGNC	p.V361F		ZBTB49		SNV							ENST00000355834	protein_coding	getma.org/?cm=var&var=hg19,4,4304644,G,T&fts=all		Gene3D:2.30.30.20,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF104,Low_complexity_(Seg):seg		V/F		T	neutral	1202/2889		getma.org/?cm=msa&ty=f&p=ZBT49_HUMAN&rb=322&re=408&var=V361F	tolerated(0.48)	Q32MK9_HUMAN,D6RJ00_HUMAN			YES	ZBTB49,missense_variant,p.Val361Phe,ENST00000337872,NM_145291.3;ZBTB49,missense_variant,p.Val361Phe,ENST00000355834,;ZBTB49,missense_variant,p.Val98Phe,ENST00000504302,;ZBTB49,5_prime_UTR_variant,,ENST00000538529,;ZBTB49,downstream_gene_variant,,ENST00000502918,;ZBTB49,missense_variant,p.Val361Phe,ENST00000515012,;ZBTB49,missense_variant,p.Val63Phe,ENST00000511458,;ZBTB49,3_prime_UTR_variant,,ENST00000503703,;							MODERATE	1081/2298	V361F	ZBT49_HUMAN			Transcript		benign(0.001)	.	ENSP00000338807		CCDS3375.1			1	
MNDA	0	LGGM	GRCh37	1	158815461	158815461	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	29	8	.	.	ENST00000368141.4:c.655G>T	p.Ala219Ser	p.A219S	ENST00000368141	NM_002432.1	219	Gca/Tca	0	1	1	UPI0000001609	0	getma.org/pdb.php?prot=MNDA_HUMAN&from=208&to=375&var=A219S	ENST00000368141		ENSG00000163563	7183		37	2.435		HGNC	p.A219S		MNDA		SNV							ENST00000368141	protein_coding	getma.org/?cm=var&var=hg19,1,158815461,G,T&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18,Superfamily_domains:SSF159141		A/S		T	medium	916/1752		getma.org/?cm=msa&ty=f&p=MNDA_HUMAN&rb=208&re=375&var=A219S	deleterious(0.01)	Q5VUU6_HUMAN			YES	MNDA,missense_variant,p.Ala219Ser,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;							MODERATE	655/1224	A219S	MNDA_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000357123		CCDS1177.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	36	8	.	.	ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32Y	ENST00000349496	pathogenic	ENSG00000168036	2514		44	2.46		HGNC	p.D32Y	rs28931588,COSM5661	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/Y		T	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32Y	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Tyr,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32Y	CTNB1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000344456		CCDS2694.1			1	19635198
TMEM255B	0	LGGM	GRCh37	13	114514843	114514843	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	24	9	.	.	ENST00000375353.3:c.948C>G	p.Pro316=	p.P316=	ENST00000375353	NM_182614.2	316	ccC/ccG	0	1	1	UPI0000071C2C	0		ENST00000375353		ENSG00000184497	28297		33			HGNC	p.P316P		TMEM255B		SNV							ENST00000375353	protein_coding			Pfam_domain:PF14967		P		G		975/1031							YES	TMEM255B,synonymous_variant,p.=,ENST00000375353,NM_182614.2;GAS6-AS1,upstream_gene_variant,,ENST00000458001,;TMEM255B,non_coding_transcript_exon_variant,,ENST00000467169,;							LOW	948/981		T255B_HUMAN			Transcript			.	ENSP00000364502		CCDS45071.1			1	
HSPA12A	0	LGGM	GRCh37	10	118440769	118440769	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	10	.	.	ENST00000369209.3:c.923-2A>G		p.X308_splice	ENST00000369209	NM_025015.2			0	1	1	UPI00001B3DE3	0		ENST00000369209		ENSG00000165868	19022		29			HGNC	-		HSPA12A		SNV							ENST00000369209	protein_coding							C		-/5722							YES	HSPA12A,splice_acceptor_variant,,ENST00000369209,NM_025015.2;HSPA12A,downstream_gene_variant,,ENST00000480802,;							HIGH	923/2028		HS12A_HUMAN			Transcript			.	ENSP00000358211		CCDS41569.1			1	
TMEM255B	0	LGGM	GRCh37	13	114514842	114514842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	24	10	.	.	ENST00000375353.3:c.947C>A	p.Pro316His	p.P316H	ENST00000375353	NM_182614.2	316	cCc/cAc	0	1	1	UPI0000071C2C	0	NA	ENST00000375353		ENSG00000184497	28297		34	1.795		HGNC	p.P316H		TMEM255B		SNV							ENST00000375353	protein_coding	getma.org/?cm=var&var=hg19,13,114514842,C,A&fts=all		Pfam_domain:PF14967		P/H		A	low	974/1031		getma.org/?cm=msa&ty=f&p=FA70B_HUMAN&rb=1&re=325&var=P316H	tolerated(0.28)				YES	TMEM255B,missense_variant,p.Pro316His,ENST00000375353,NM_182614.2;GAS6-AS1,upstream_gene_variant,,ENST00000458001,;TMEM255B,non_coding_transcript_exon_variant,,ENST00000467169,;							MODERATE	947/981	P316H	T255B_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000364502		CCDS45071.1			1	
SLC4A8	0	LGGM	GRCh37	12	51868898	51868898	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	29	10	.	.	ENST00000453097.2:c.2080G>T	p.Val694Phe	p.V694F	ENST00000453097	NM_001039960.2	694	Gtc/Ttc	0	1	1	UPI00005E6FB4	0	NA	ENST00000453097		ENSG00000050438	11034		39	2.895		HGNC	p.V694F		SLC4A8		SNV							ENST00000599597	protein_coding	getma.org/?cm=var&var=hg19,12,51868898,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834		V/F		T	medium	2297/4395		getma.org/?cm=msa&ty=f&p=S4A8_HUMAN&rb=444&re=958&var=V694F	deleterious(0)				YES	SLC4A8,missense_variant,p.Val694Phe,ENST00000453097,NM_001039960.2,NM_001258401.2;SLC4A8,missense_variant,p.Val721Phe,ENST00000358657,;SLC4A8,missense_variant,p.Val641Phe,ENST00000514353,NM_001258403.1;SLC4A8,missense_variant,p.Val641Phe,ENST00000394856,;SLC4A8,downstream_gene_variant,,ENST00000535225,NM_001258402.1,NM_001267615.1;SLC4A8,downstream_gene_variant,,ENST00000546663,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;							MODERATE	2080/3282	V694F	S4A8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000405812		CCDS44890.1			1	
MYO7A	0	LGGM	GRCh37	11	76917206	76917206	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	12	10	.	.	ENST00000409709.3:c.5701C>T	p.Gln1901Ter	p.Q1901*	ENST00000409709	NM_000260.3	1901	Cag/Tag	0	1	1	UPI00001FAFE6	0	NA	ENST00000409709		ENSG00000137474	7606		22	0		HGNC	p.Q1863X		MYO7A		SNV			1				ENST00000458637	protein_coding	getma.org/?cm=var&var=hg19,11,76917206,C,T&fts=all		Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236		Q/*		T	NA	5973/7462		NA					YES	MYO7A,stop_gained,p.Gln1901Ter,ENST00000409709,NM_000260.3;MYO7A,stop_gained,p.Gln1863Ter,ENST00000458637,NM_001127180.1;MYO7A,stop_gained,p.Gln1852Ter,ENST00000409619,;MYO7A,stop_gained,p.Gln1043Ter,ENST00000458169,;MYO7A,non_coding_transcript_exon_variant,,ENST00000605744,;MYO7A,upstream_gene_variant,,ENST00000526863,;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;							HIGH	5701/6648	Q1901*	MYO7A_HUMAN			Transcript			.	ENSP00000386331		CCDS53683.1			1	
TFPI2	0	LGGM	GRCh37	7	93516583	93516583	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	26	10	.	.	ENST00000222543.5:c.621A>G	p.Ala207=	p.A207=	ENST00000222543	NM_001271004.1	207	gcA/gcG	0	1	1	UPI00000362E2	0		ENST00000222543		ENSG00000105825	11761		36			HGNC	p.H103R		TFPI2		SNV							ENST00000451238	protein_coding			Low_complexity_(Seg):seg,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		A		C		934/2444				Q8NE89_HUMAN,Q8NAK6_HUMAN			YES	TFPI2,missense_variant,p.His103Arg,ENST00000451238,;TFPI2,synonymous_variant,p.=,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;GNGT1,intron_variant,,ENST00000455502,;TFPI2,intron_variant,,ENST00000545378,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,downstream_gene_variant,,ENST00000461482,;							LOW	621/708		TFPI2_HUMAN			Transcript			.	ENSP00000222543		CCDS5632.1			1	
MKL1	0	LGGM	GRCh37	22	40814880	40814880	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	31	10	.	.	ENST00000355630.3:c.1562G>A	p.Arg521His	p.R521H	ENST00000355630	NM_020831.3	521	cGc/cAc	0	1	1	UPI000007311D	0	NA	ENST00000355630		ENSG00000196588	14334	0.000704	41	-0.14		HGNC	p.R521H	rs775640702,COSM3992194	MKL1	0.000245	SNV			1	0.000111		0,1	ENST00000355630	protein_coding	getma.org/?cm=var&var=hg19,22,40814880,C,T&fts=all		hmmpanther:PTHR22793:SF6,hmmpanther:PTHR22793		R/H		T	neutral	2153/4496	4.73E-05	getma.org/?cm=msa&ty=f&p=MKL1_HUMAN&rb=382&re=581&var=R521H	tolerated(0.15)	Q29R68_HUMAN			YES	MKL1,missense_variant,p.Arg521His,ENST00000396617,NM_001282662.1;MKL1,missense_variant,p.Arg521His,ENST00000355630,NM_020831.3;MKL1,missense_variant,p.Arg471His,ENST00000402042,NM_001282661.1;MKL1,missense_variant,p.Arg521His,ENST00000407029,NM_001282660.1;RP5-1042K10.13,downstream_gene_variant,,ENST00000609279,;MKL1,upstream_gene_variant,,ENST00000477468,;	0.000118				0,1		MODERATE	1562/2796	R521H	MKL1_HUMAN			Transcript		probably_damaging(0.984)	common_variant	ENSP00000347847	0.00014	CCDS14003.1			1	
SGSM2	0	LGGM	GRCh37	17	2270629	2270629	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	6	10	.	.	ENST00000268989.3:c.1353G>A	p.Glu451=	p.E451=	ENST00000268989	NM_014853.2	451	gaG/gaA	0	1		UPI00002005DE	0		ENST00000426855		ENSG00000141258	29026		16			HGNC	p.E451E		SGSM2		SNV							ENST00000268989	protein_coding							A		-/4734				I3L1Y7_HUMAN,B9A6J3_HUMAN				SGSM2,synonymous_variant,p.=,ENST00000268989,NM_014853.2;SGSM2,intron_variant,,ENST00000426855,NM_001098509.1;SGSM2,intron_variant,,ENST00000574563,;SGSM2,downstream_gene_variant,,ENST00000570431,;SGSM2,downstream_gene_variant,,ENST00000574650,;SGSM2,non_coding_transcript_exon_variant,,ENST00000575367,;SGSM2,intron_variant,,ENST00000574857,;SGSM2,upstream_gene_variant,,ENST00000573717,;SGSM2,downstream_gene_variant,,ENST00000573062,;							MODIFIER	-/3021		SGSM2_HUMAN			Transcript			.	ENSP00000415107		CCDS45570.1			1	
FANCG	0	LGGM	GRCh37	9	35074378	35074378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	81	10	.	.	ENST00000378643.3:c.1750G>A	p.Asp584Asn	p.D584N	ENST00000378643	NM_004629.1	584	Gat/Aat	0	1	1	UPI0000000CB4	0	NA	ENST00000378643		ENSG00000221829	3588		91	-1.355		HGNC	p.D584N		FANCG		SNV			1				ENST00000378643	protein_coding	getma.org/?cm=var&var=hg19,9,35074378,C,T&fts=all		hmmpanther:PTHR15254		D/N		T	neutral	2242/2631		getma.org/?cm=msa&ty=f&p=FANCG_HUMAN&rb=476&re=622&var=D584N	tolerated(0.68)	Q53XM5_HUMAN,C9JSE3_HUMAN			YES	FANCG,missense_variant,p.Asp584Asn,ENST00000378643,NM_004629.1;VCP,upstream_gene_variant,,ENST00000358901,NM_007126.3;VCP,upstream_gene_variant,,ENST00000448530,;FANCG,downstream_gene_variant,,ENST00000448890,;VCP,upstream_gene_variant,,ENST00000417448,;FANCG,non_coding_transcript_exon_variant,,ENST00000476212,;FANCG,3_prime_UTR_variant,,ENST00000425676,;VCP,upstream_gene_variant,,ENST00000493886,;FANCG,downstream_gene_variant,,ENST00000462124,;FANCG,downstream_gene_variant,,ENST00000481254,;FANCG,downstream_gene_variant,,ENST00000474894,;FANCG,downstream_gene_variant,,ENST00000461149,;							MODERATE	1750/1869	D584N	FANCG_HUMAN			Transcript		benign(0)	.	ENSP00000367910		CCDS6574.1			1	
VIL1	0	LGGM	GRCh37	2	219302005	219302005	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	22	10	.	.	ENST00000248444.5:c.2130G>A	p.Trp710Ter	p.W710*	ENST00000248444	NM_007127.2	710	tgG/tgA	0	1	1	UPI000013CC45	0	NA	ENST00000248444		ENSG00000127831	12690		32	0		HGNC	p.W710X		VIL1		SNV							ENST00000248444	protein_coding	getma.org/?cm=var&var=hg19,2,219302005,G,A&fts=all		Superfamily_domains:SSF55753,SMART_domains:SM00262,Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35		W/*		A	NA	2218/6531		NA		Q53S11_HUMAN,B4DV78_HUMAN			YES	VIL1,stop_gained,p.Trp710Ter,ENST00000248444,NM_007127.2;VIL1,stop_gained,p.Trp399Ter,ENST00000392114,;VIL1,downstream_gene_variant,,ENST00000419986,;							HIGH	2130/2484	W710*	VILI_HUMAN			Transcript			.	ENSP00000248444		CCDS2417.1			1	
APOBEC4	0	LGGM	GRCh37	1	183617795	183617795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	42	10	.	.	ENST00000308641.4:c.122C>T	p.Ala41Val	p.A41V	ENST00000308641	NM_203454.2	41	gCa/gTa	0	1	1	UPI0000071339	0	NA	ENST00000308641		ENSG00000173627	32152		52	0.895		HGNC	p.A41V		APOBEC4		SNV							ENST00000308641	protein_coding	getma.org/?cm=var&var=hg19,1,183617795,G,A&fts=all				A/V		A	low	394/2648		getma.org/?cm=msa&ty=f&p=ABEC4_HUMAN&rb=41&re=233&var=A41V	deleterious(0)				YES	APOBEC4,missense_variant,p.Ala41Val,ENST00000308641,NM_203454.2;RGL1,intron_variant,,ENST00000304685,NM_015149.3;RGL1,intron_variant,,ENST00000536277,;APOBEC4,intron_variant,,ENST00000481562,;							MODERATE	122/1104	A41V	ABEC4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000310622		CCDS1358.1			1	
PIKFYVE	0	LGGM	GRCh37	2	209191104	209191104	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	23	10	.	.	ENST00000264380.4:c.3569G>A	p.Gly1190Asp	p.G1190D	ENST00000264380	NM_015040.3	1190	gGt/gAt	0	1	1	UPI0000366FD6	0	NA	ENST00000264380		ENSG00000115020	23785		33	0.895		HGNC	p.G1134D		PIKFYVE		SNV			1				ENST00000452564	protein_coding	getma.org/?cm=var&var=hg19,2,209191104,G,A&fts=all		hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353		G/D		A	low	3727/9901		getma.org/?cm=msa&ty=f&p=FYV1_HUMAN&rb=1068&re=1267&var=G1190D	tolerated(0.55)				YES	PIKFYVE,missense_variant,p.Gly1190Asp,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Gly1134Asp,ENST00000452564,;PIKFYVE,downstream_gene_variant,,ENST00000443896,;							MODERATE	3569/6297	G1190D	FYV1_HUMAN			Transcript		benign(0.001)	.	ENSP00000264380		CCDS2382.1			1	
PADI3	0	LGGM	GRCh37	1	17593272	17593272	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	17	11	.	.	ENST00000375460.3:c.467G>A	p.Arg156His	p.R156H	ENST00000375460	NM_016233.2	156	cGt/cAt	0	1	1	UPI000013D8A0	0	getma.org/pdb.php?prot=PADI3_HUMAN&from=115&to=273&var=R156H	ENST00000375460		ENSG00000142619	18337		28	2.67		HGNC	p.R156H	rs769850490	PADI3		SNV							ENST00000375460	protein_coding	getma.org/?cm=var&var=hg19,1,17593272,G,A&fts=all		Superfamily_domains:0044952,Pfam_domain:PF08527,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF2		R/H		A	medium	507/3189	3.00E-05	getma.org/?cm=msa&ty=f&p=PADI3_HUMAN&rb=115&re=273&var=R156H	deleterious(0.01)				YES	PADI3,missense_variant,p.Arg156His,ENST00000375460,NM_016233.2;	0.000116						MODERATE	467/1995	R156H	PADI3_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000364609	2.47E-05	CCDS179.1			1	
FAP	0	LGGM	GRCh37	2	163070532	163070532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	45	11	.	.	ENST00000188790.4:c.918G>T	p.Leu306Phe	p.L306F	ENST00000188790	NM_004460.2	306	ttG/ttT	0	1	1	UPI00000012A2	0	getma.org/pdb.php?prot=SEPR_HUMAN&from=106&to=473&var=L306F	ENST00000188790		ENSG00000078098	3590		56	0.74		HGNC	p.L281F		FAP		SNV							ENST00000443424	protein_coding	getma.org/?cm=var&var=hg19,2,163070532,C,A&fts=all		Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Superfamily_domains:SSF82171		L/F		A	neutral	1126/2780		getma.org/?cm=msa&ty=f&p=SEPR_HUMAN&rb=106&re=473&var=L306F	deleterious(0.03)	C9J131_HUMAN			YES	FAP,missense_variant,p.Leu306Phe,ENST00000188790,NM_004460.2;FAP,missense_variant,p.Leu281Phe,ENST00000443424,;FAP,non_coding_transcript_exon_variant,,ENST00000480838,;							MODERATE	918/2283	L306F	SEPR_HUMAN			Transcript		benign(0.025)	.	ENSP00000188790		CCDS33311.1			1	
BROX	0	LGGM	GRCh37	1	222902992	222902992	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	13	11	.	.	ENST00000340934.5:c.787G>A	p.Ala263Thr	p.A263T	ENST00000340934	NM_144695.2	263	Gct/Act	0	1	1	UPI000013E1D1	0	getma.org/pdb.php?prot=BROX_HUMAN&from=30&to=370&var=A263T	ENST00000340934		ENSG00000162819	26512		24	1.6		HGNC	p.A231T		BROX		SNV							ENST00000539697	protein_coding	getma.org/?cm=var&var=hg19,1,222902992,G,A&fts=all		PROSITE_profiles:PS51180,hmmpanther:PTHR23032,Gene3D:2xs1A01,Pfam_domain:PF03097,SMART_domains:SM01041		A/T		A	low	1193/4124		getma.org/?cm=msa&ty=f&p=BROX_HUMAN&rb=30&re=370&var=A263T	deleterious(0.03)	Q5VW33_HUMAN			YES	BROX,missense_variant,p.Ala263Thr,ENST00000340934,NM_144695.2;BROX,missense_variant,p.Ala231Thr,ENST00000539697,;BROX,missense_variant,p.Ala263Thr,ENST00000537020,;BROX,downstream_gene_variant,,ENST00000426638,;BROX,downstream_gene_variant,,ENST00000489191,;BROX,downstream_gene_variant,,ENST00000473962,;							MODERATE	787/1236	A263T	BROX_HUMAN			Transcript		benign(0.028)	.	ENSP00000343742		CCDS1534.1			1	
TF	0	LGGM	GRCh37	3	133486995	133486995	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	11	.	.	ENST00000402696.3:c.1609A>C	p.Thr537Pro	p.T537P	ENST00000402696	NM_001063.3	537	Aca/Cca	0	1	1	UPI000013D5A6	0	getma.org/pdb.php?prot=TRFE_HUMAN&from=361&to=683&var=T537P	ENST00000402696		ENSG00000091513	11740		30	2.76		HGNC	p.T410P		TF		SNV			1				ENST00000264998	protein_coding	getma.org/?cm=var&var=hg19,3,133486995,A,C&fts=all		Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,PROSITE_patterns:PS00206,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408		T/P		C	medium	2094/2968		getma.org/?cm=msa&ty=f&p=TRFE_HUMAN&rb=361&re=683&var=T537P	deleterious(0)	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,missense_variant,p.Thr537Pro,ENST00000402696,NM_001063.3;TF,missense_variant,p.Thr410Pro,ENST00000264998,;TF,missense_variant,p.Thr94Pro,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000462495,;TF,upstream_gene_variant,,ENST00000467842,;							MODERATE	1609/2097	T537P	TRFE_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000385834		CCDS3080.1			1	
PARP4	0	LGGM	GRCh37	13	25073505	25073505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	11	11	.	.	ENST00000381989.3:c.411G>T	p.Met137Ile	p.M137I	ENST00000381989	NM_006437.3	137	atG/atT	0	1	1	UPI000013C76E	0	NA	ENST00000381989		ENSG00000102699	271		22	0		HGNC	p.M137I		PARP4		SNV							ENST00000381989	protein_coding	getma.org/?cm=var&var=hg19,13,25073505,C,A&fts=all				M/I		A	neutral	517/5474		getma.org/?cm=msa&ty=f&p=PARP4_HUMAN&rb=82&re=281&var=M137I	tolerated(0.21)				YES	PARP4,missense_variant,p.Met137Ile,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;							MODERATE	411/5175	M137I	PARP4_HUMAN			Transcript		benign(0)	.	ENSP00000371419		CCDS9307.1			1	
LYPD6	0	LGGM	GRCh37	2	150327256	150327256	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	96	12	.	.	ENST00000334166.4:c.408T>C	p.Thr136=	p.T136=	ENST00000334166	NM_194317.3	136	acT/acC	0	1	1	UPI000000DB99	0		ENST00000334166		ENSG00000187123	28751		108			HGNC	p.T136T		LYPD6		SNV							ENST00000334166	protein_coding			hmmpanther:PTHR31171,hmmpanther:PTHR31171:SF0		T		C		665/4071				C9IYE7_HUMAN			YES	LYPD6,synonymous_variant,p.=,ENST00000334166,NM_194317.3;LYPD6,synonymous_variant,p.=,ENST00000409381,NM_001195685.1;LYPD6,3_prime_UTR_variant,,ENST00000392854,;LYPD6,3_prime_UTR_variant,,ENST00000418762,;							LOW	408/516		LYPD6_HUMAN			Transcript			.	ENSP00000334463		CCDS2188.1			1	
LYST	0	LGGM	GRCh37	1	235993547	235993547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	13	.	.	ENST00000389794.3:c.171G>T	p.Lys57Asn	p.K57N	ENST00000389794		57	aaG/aaT	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		31	1.1		HGNC	p.K57N		LYST		SNV			1				ENST00000389794	protein_coding	getma.org/?cm=var&var=hg19,1,235993547,C,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60		K/N		A	low	346/13471		getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=1&re=1457&var=K57N	tolerated_low_confidence(0.05)					LYST,missense_variant,p.Lys57Asn,ENST00000389794,;LYST,missense_variant,p.Lys57Asn,ENST00000389793,NM_000081.3;LYST,missense_variant,p.Lys57Asn,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,;							MODERATE	171/11406	K57N	LYST_HUMAN			Transcript		benign(0.193)	.	ENSP00000374443		CCDS31062.1			1	
KSR1	0	LGGM	GRCh37	17	25919558	25919558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	109	13	.	.	ENST00000398988.3:c.794G>A	p.Arg265Gln	p.R265Q	ENST00000398988	NM_014238.1	265	cGg/cAg	0	1	1	UPI00005B2F0C	0	NA	ENST00000398988		ENSG00000141068	6465		122	2.165		HGNC	p.R137Q	rs367990495	KSR1		SNV	A:0						ENST00000398982	protein_coding	getma.org/?cm=var&var=hg19,17,25919558,G,A&fts=all		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413		R/Q	A:0.0001	A	medium	1239/7234	3.00E-05	getma.org/?cm=msa&ty=f&p=KSR1_HUMAN&rb=367&re=566&var=R400Q	tolerated(0.17)	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN			YES	KSR1,missense_variant,p.Arg265Gln,ENST00000398988,NM_014238.1;KSR1,missense_variant,p.Arg402Gln,ENST00000319524,;KSR1,missense_variant,p.Arg265Gln,ENST00000268763,;KSR1,missense_variant,p.Arg402Gln,ENST00000509603,;KSR1,missense_variant,p.Arg137Gln,ENST00000398982,;KSR1,non_coding_transcript_exon_variant,,ENST00000581975,;KSR1,downstream_gene_variant,,ENST00000580822,;KSR1,upstream_gene_variant,,ENST00000579961,;KSR1,3_prime_UTR_variant,,ENST00000577823,;	0.000232						MODERATE	794/2289	R400Q		0.000302		Transcript		probably_damaging(0.999)	.	ENSP00000381958	4.96E-05	CCDS58532.1			1	
DAGLA	0	LGGM	GRCh37	11	61511100	61511100	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	36	13	.	.	ENST00000257215.5:c.2268G>T	p.Glu756Asp	p.E756D	ENST00000257215	NM_006133.2	756	gaG/gaT	0	1	1	UPI00001678B3	0	NA	ENST00000257215		ENSG00000134780	1165		49	0.55		HGNC	p.E756D		DAGLA		SNV			1				ENST00000257215	protein_coding	getma.org/?cm=var&var=hg19,11,61511100,G,T&fts=all		hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87		E/D		T	neutral	2384/5757		getma.org/?cm=msa&ty=f&p=DGLA_HUMAN&rb=723&re=1040&var=E756D	tolerated_low_confidence(0.47)				YES	DAGLA,missense_variant,p.Glu756Asp,ENST00000257215,NM_006133.2;RP11-467L20.10,downstream_gene_variant,,ENST00000536405,;RP11-467L20.10,downstream_gene_variant,,ENST00000541891,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;							MODERATE	2268/3129	E756D	DGLA_HUMAN			Transcript		benign(0.197)	.	ENSP00000257215		CCDS31578.1			1	
CNTNAP2	0	LGGM	GRCh37	7	146805311	146805311	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	38	13	.	.	ENST00000361727.3:c.623T>C	p.Leu208Pro	p.L208P	ENST00000361727	NM_014141.5	208	cTg/cCg	0	1	1	UPI00001285FA	0	NA	ENST00000361727		ENSG00000174469	13830		51	1.79		HGNC	p.L208P	rs755776087	CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,146805311,T,C&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		L/P		C	low	1139/9894	3.00E-05	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=179&re=215&var=L208P	deleterious(0.03)	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			YES	CNTNAP2,missense_variant,p.Leu208Pro,ENST00000361727,NM_014141.5;							MODERATE	623/3996	L208P	CNTP2_HUMAN			Transcript		benign(0.062)	.	ENSP00000354778	1.65E-05	CCDS5889.1			1	
SYT4	0	LGGM	GRCh37	18	40850576	40850576	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	8	13	.	.	ENST00000255224.3:c.1008G>C	p.Lys336Asn	p.K336N	ENST00000255224	NM_020783.3	336	aaG/aaC	0	1	1	UPI000013669E	0	getma.org/pdb.php?prot=SYT4_HUMAN&from=304&to=392&var=K336N	ENST00000255224		ENSG00000132872	11512		21	1.88		HGNC	p.K318N		SYT4		SNV							ENST00000590752	protein_coding	getma.org/?cm=var&var=hg19,18,40850576,C,G&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		K/N		G	low	1377/4110		getma.org/?cm=msa&ty=f&p=SYT4_HUMAN&rb=304&re=392&var=K336N	deleterious(0)	M0QZF3_HUMAN,B4DMA9_HUMAN			YES	SYT4,missense_variant,p.Lys336Asn,ENST00000255224,NM_020783.3;SYT4,missense_variant,p.Lys318Asn,ENST00000590752,;SYT4,missense_variant,p.Lys66Asn,ENST00000596867,;SYT4,downstream_gene_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000585604,;SYT4,non_coding_transcript_exon_variant,,ENST00000589479,;SYT4,intron_variant,,ENST00000586678,;SYT4,downstream_gene_variant,,ENST00000591820,;							MODERATE	1008/1278	K336N	SYT4_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000255224		CCDS11922.1			1	
UBASH3B	0	LGGM	GRCh37	11	122647787	122647787	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	11	14	.	.	ENST00000284273.5:c.271G>T	p.Val91Phe	p.V91F	ENST00000284273	NM_032873.4	91	Gtc/Ttc	0	1	1	UPI0000047471	0	NA	ENST00000284273		ENSG00000154127	29884		25	1.905		HGNC	p.V91F		UBASH3B		SNV							ENST00000284273	protein_coding	getma.org/?cm=var&var=hg19,11,122647787,G,T&fts=all		hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24		V/F		T	medium	646/6912		getma.org/?cm=msa&ty=f&p=UBS3B_HUMAN&rb=74&re=259&var=V91F	deleterious(0.04)				YES	UBASH3B,missense_variant,p.Val91Phe,ENST00000284273,NM_032873.4;UBASH3B,non_coding_transcript_exon_variant,,ENST00000526386,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000533451,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000530917,;UBASH3B,upstream_gene_variant,,ENST00000529998,;							MODERATE	271/1950	V91F	UBS3B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000284273		CCDS31694.1			1	
DNAH9	0	LGGM	GRCh37	17	11783479	11783479	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	26	14	.	.	ENST00000262442.4:c.10563G>T	p.Leu3521=	p.L3521=	ENST00000262442	NM_001372.3	3521	ctG/ctT	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		40			HGNC	p.L3521L		DNAH9		SNV							ENST00000262442	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12781		L		T		10631/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;DNAH9,synonymous_variant,p.=,ENST00000579703,;DNAH9,upstream_gene_variant,,ENST00000608377,NM_004662.2;RP11-628O18.1,upstream_gene_variant,,ENST00000579621,;DNAH9,non_coding_transcript_exon_variant,,ENST00000580255,;DNAH9,upstream_gene_variant,,ENST00000396001,;DNAH9,upstream_gene_variant,,ENST00000581682,;							LOW	10563/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
ZFHX4	0	LGGM	GRCh37	8	77764358	77764358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	85	14	.	.	ENST00000521891.2:c.5201A>G	p.Gln1734Arg	p.Q1734R	ENST00000521891	NM_024721.4	1734	cAg/cGg	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		99	2.16		HGNC	p.Q1734R		ZFHX4		SNV							ENST00000521891	protein_coding	getma.org/?cm=var&var=hg19,8,77764358,A,G&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg		Q/R		G	medium	5649/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=1573&re=1772&var=Q1689R		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Gln1734Arg,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Gln1689Arg,ENST00000455469,;ZFHX4,missense_variant,p.Gln1708Arg,ENST00000518282,;ZFHX4,missense_variant,p.Gln1689Arg,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;							MODERATE	5201/10851	Q1689R				Transcript		benign(0.145)	.	ENSP00000430497		CCDS47878.2			1	
ZNF676	0	LGGM	GRCh37	19	22362910	22362910	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	60	14	.	.	ENST00000397121.2:c.1609G>T	p.Glu537Ter	p.E537*	ENST00000397121	NM_001001411.2	537	Gaa/Taa	0	1	1	UPI00002376EC	0	NA	ENST00000397121		ENSG00000196109	20429		74	0		HGNC	p.E537X		ZNF676		SNV							ENST00000397121	protein_coding	getma.org/?cm=var&var=hg19,19,22362910,C,A&fts=all		Superfamily_domains:SSF57667,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		E/*		A	NA	1927/2944		NA					YES	ZNF676,stop_gained,p.Glu537Ter,ENST00000397121,NM_001001411.2;VN1R85P,upstream_gene_variant,,ENST00000601587,;							HIGH	1609/1767	E537*	ZN676_HUMAN			Transcript			.	ENSP00000380310		CCDS42539.1			1	
ENTPD8	0	LGGM	GRCh37	9	140331689	140331689	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	4	14	.	.	ENST00000371506.2:c.317C>T	p.Ala106Val	p.A106V	ENST00000371506	NM_001033113.1	106	gCg/gTg	0	1	1	UPI0000D6195D	0	getma.org/pdb.php?prot=ENTP8_HUMAN&from=34&to=462&var=A106V	ENST00000371506		ENSG00000188833	24860		18	2.515		HGNC	p.A106V		ENTPD8		SNV							ENST00000472938	protein_coding	getma.org/?cm=var&var=hg19,9,140331689,G,A&fts=all		Pfam_domain:PF01150,hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF31		A/V		A	medium	501/2222		getma.org/?cm=msa&ty=f&p=ENTP8_HUMAN&rb=34&re=462&var=A106V	deleterious(0.04)				YES	ENTPD8,missense_variant,p.Ala106Val,ENST00000371506,NM_001033113.1;ENTPD8,missense_variant,p.Ala106Val,ENST00000344119,NM_198585.2;ENTPD8,missense_variant,p.Ala106Val,ENST00000472938,;ENTPD8,missense_variant,p.Ala93Val,ENST00000493135,;NOXA1,downstream_gene_variant,,ENST00000341349,NM_001256067.1,NM_006647.1;NOXA1,downstream_gene_variant,,ENST00000392815,NM_001256068.1;ENTPD8,non_coding_transcript_exon_variant,,ENST00000461823,;							MODERATE	317/1488	A106V	ENTP8_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000360561		CCDS43913.1			1	
ZBED2	0	LGGM	GRCh37	3	111312714	111312714	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	14	.	.	ENST00000317012.4:c.335A>T	p.Lys112Met	p.K112M	ENST00000317012	NM_024508.4	112	aAg/aTg	0	1	1	UPI0000374509	0	NA	ENST00000317012		ENSG00000177494	20710		32	1.735		HGNC	p.K112M		ZBED2		SNV							ENST00000317012	protein_coding	getma.org/?cm=var&var=hg19,3,111312714,T,A&fts=all		PROSITE_profiles:PS50808,Superfamily_domains:SSF57667		K/M		A	low	1344/2311		getma.org/?cm=msa&ty=f&p=ZBED2_HUMAN&rb=108&re=218&var=K112M	deleterious(0)				YES	ZBED2,missense_variant,p.Lys112Met,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,;							MODERATE	335/657	K112M	ZBED2_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000321370		CCDS2960.2			1	
ZNF385D	0	LGGM	GRCh37	3	21552393	21552393	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	33	14	.	.	ENST00000281523.2:c.399C>T	p.Ser133=	p.S133=	ENST00000281523	NM_024697.2	133	tcC/tcT	0	1	1	UPI00000724AC	0		ENST00000281523		ENSG00000151789	26191		47			HGNC	p.S133S		ZNF385D		SNV							ENST00000281523	protein_coding			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12,Low_complexity_(Seg):seg		S		A		918/4498							YES	ZNF385D,synonymous_variant,p.=,ENST00000281523,NM_024697.2;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494118,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000495739,;ZNF385D,3_prime_UTR_variant,,ENST00000446749,;							LOW	399/1188		Z385D_HUMAN			Transcript			.	ENSP00000281523		CCDS2636.1			1	
CPED1	0	LGGM	GRCh37	7	120767310	120767310	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	42	15	.	.	ENST00000310396.5:c.1301A>C	p.Lys434Thr	p.K434T	ENST00000310396	NM_024913.4	434	aAg/aCg	0	1	1	UPI000013C813	0	NA	ENST00000310396		ENSG00000106034	26159		57	2.125		HGNC	p.K434T		CPED1		SNV							ENST00000310396	protein_coding	getma.org/?cm=var&var=hg19,7,120767310,A,C&fts=all		hmmpanther:PTHR14776		K/T		C	medium	1768/5340		getma.org/?cm=msa&ty=f&p=CG058_HUMAN&rb=401&re=574&var=K434T	deleterious(0.01)	Q75MM9_HUMAN,E9PCC8_HUMAN,E7ENG7_HUMAN			YES	CPED1,missense_variant,p.Lys434Thr,ENST00000310396,NM_024913.4;CPED1,missense_variant,p.Lys434Thr,ENST00000450913,NM_001105533.1;CPED1,missense_variant,p.Lys434Thr,ENST00000428526,;CPED1,missense_variant,p.Lys214Thr,ENST00000423795,;CPED1,missense_variant,p.Lys214Thr,ENST00000443817,;							MODERATE	1301/3081	K434T	CPED1_HUMAN			Transcript		benign(0.346)	.	ENSP00000309772		CCDS34739.1			1	
TMEM55B	0	LGGM	GRCh37	14	20927828	20927828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	38	15	.	.	ENST00000398020.4:c.526G>T	p.Gly176Cys	p.G176C	ENST00000398020	NM_144568.2	176	Ggt/Tgt	0	1		UPI000000CC01	0	NA	ENST00000250489		ENSG00000165782	19299		53	1.655		HGNC	p.G2C		TMEM55B		SNV							ENST00000554028	protein_coding	getma.org/?cm=var&var=hg19,14,20927828,C,A&fts=all		hmmpanther:PTHR21014:SF3,hmmpanther:PTHR21014,Pfam_domain:PF09788		G/C		A	low	792/1961		getma.org/?cm=msa&ty=f&p=TM55B_HUMAN&rb=1&re=270&var=G169C	deleterious(0.02)	G3V5T5_HUMAN,G3V3P3_HUMAN				TMEM55B,missense_variant,p.Gly169Cys,ENST00000250489,;TMEM55B,missense_variant,p.Gly176Cys,ENST00000398020,NM_144568.2,NM_001100814.1;TMEM55B,missense_variant,p.Gly2Cys,ENST00000554028,;TMEM55B,missense_variant,p.Gly9Cys,ENST00000553460,;OSGEP,upstream_gene_variant,,ENST00000206542,NM_017807.3;APEX1,downstream_gene_variant,,ENST00000216714,NM_001244249.1,NM_001641.3;APEX1,downstream_gene_variant,,ENST00000555414,NM_080649.2,NM_080648.2;APEX1,downstream_gene_variant,,ENST00000398030,;APEX1,downstream_gene_variant,,ENST00000555839,;APEX1,downstream_gene_variant,,ENST00000553681,;APEX1,downstream_gene_variant,,ENST00000557054,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;OSGEP,upstream_gene_variant,,ENST00000488532,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;APEX1,downstream_gene_variant,,ENST00000557181,;APEX1,downstream_gene_variant,,ENST00000438886,;APEX1,downstream_gene_variant,,ENST00000553368,;TMEM55B,downstream_gene_variant,,ENST00000556093,;APEX1,downstream_gene_variant,,ENST00000557365,;OSGEP,upstream_gene_variant,,ENST00000556252,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000554813,;APEX1,downstream_gene_variant,,ENST00000556296,;TMEM55B,non_coding_transcript_exon_variant,,ENST00000557041,;APEX1,downstream_gene_variant,,ENST00000557159,;APEX1,downstream_gene_variant,,ENST00000553555,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;APEX1,downstream_gene_variant,,ENST00000554325,;TMEM55B,upstream_gene_variant,,ENST00000553602,;							MODERATE	505/834	G169C	TM55B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000250489		CCDS9551.1			1	
SMARCA2	0	LGGM	GRCh37	9	2076251	2076251	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	63	15	.	.	ENST00000382203.1:c.1958G>A	p.Arg653Lys	p.R653K	ENST00000382203		653	aGg/aAg	0	1		UPI00001AE8EB	0	NA	ENST00000349721		ENSG00000080503	11098		78	0.205		HGNC	p.R653K		SMARCA2		SNV			1				ENST00000349721	protein_coding	getma.org/?cm=var&var=hg19,9,2076251,G,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,Low_complexity_(Seg):seg,Superfamily_domains:SSF160481		R/K		A	neutral	2057/5757		getma.org/?cm=msa&ty=f&p=SMCA2_HUMAN&rb=634&re=726&var=R653K		Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN				SMARCA2,missense_variant,p.Arg653Lys,ENST00000382203,;SMARCA2,missense_variant,p.Arg653Lys,ENST00000349721,NM_003070.3;SMARCA2,missense_variant,p.Arg653Lys,ENST00000357248,NM_139045.2;SMARCA2,missense_variant,p.Arg653Lys,ENST00000382194,;							MODERATE	1958/4773	R653K	SMCA2_HUMAN			Transcript		benign(0.067)	.	ENSP00000265773		CCDS34977.1			1	
PLEKHH2	0	LGGM	GRCh37	2	43871884	43871884	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	10	15	.	.	ENST00000282406.4:c.72C>T	p.Leu24=	p.L24=	ENST00000282406	NM_172069.3	24	ctC/ctT	0	1	1	UPI000016021B	0		ENST00000282406		ENSG00000152527	30506		25			HGNC	p.L24L		PLEKHH2		SNV							ENST00000491692	protein_coding			hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3		L		T		182/6981							YES	PLEKHH2,synonymous_variant,p.=,ENST00000282406,NM_172069.3;PLEKHH2,synonymous_variant,p.=,ENST00000491692,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;							LOW	72/4482		PKHH2_HUMAN			Transcript			.	ENSP00000282406		CCDS1812.1			1	
CNTNAP3B	0	LGGM	GRCh37	9	43816792	43816792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	33	15	.	.	ENST00000377564.3:c.898G>T	p.Asp300Tyr	p.D300Y	ENST00000377564	NM_001201380.1	300	Gat/Tat	0	1			0	getma.org/pdb.php?prot=CNT3B_HUMAN&from=212&to=341&var=D300Y	ENST00000377561		ENSG00000154529	32035		48	0.66		HGNC	p.D300Y		CNTNAP3B		SNV							ENST00000341990	retained_intron	getma.org/?cm=var&var=hg19,9,43816792,G,T&fts=all						T	neutral	1044/5256		getma.org/?cm=msa&ty=f&p=CNT3B_HUMAN&rb=212&re=341&var=D300Y						CNTNAP3B,missense_variant,p.Asp300Tyr,ENST00000377564,NM_001201380.1;CNTNAP3B,missense_variant,p.Asp300Tyr,ENST00000276974,;CNTNAP3B,missense_variant,p.Asp300Tyr,ENST00000479351,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;							MODIFIER		D300Y				Transcript			.						1	
PDE10A	0	LGGM	GRCh37	6	165843827	165843827	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	15	.	.	ENST00000539869.2:c.751A>G	p.Arg251Gly	p.R251G	ENST00000539869	NM_001130690.2	251	Aga/Gga	0	1		UPI0000039E34	0	NA	ENST00000366882		ENSG00000112541	8772		33	0		HGNC	p.R241G		PDE10A		SNV							ENST00000354448	protein_coding	getma.org/?cm=var&var=hg19,6,165843827,T,C&fts=all		SMART_domains:SM00065,Gene3D:3.30.450.40,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79		R/G		C	neutral	876/8233		getma.org/?cm=msa&ty=f&p=PDE10_HUMAN&rb=235&re=265&var=R241G	tolerated(0.4)	Q9HCQ1_HUMAN				PDE10A,missense_variant,p.Arg241Gly,ENST00000366882,;PDE10A,missense_variant,p.Arg241Gly,ENST00000354448,;PDE10A,missense_variant,p.Arg251Gly,ENST00000539869,NM_001130690.2;							MODERATE	721/2340	R241G	PDE10_HUMAN			Transcript		possibly_damaging(0.449)	.	ENSP00000355847					1	
CAMTA1	0	LGGM	GRCh37	1	6885222	6885222	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	16	.	.	ENST00000303635.7:c.186G>T	p.Pro62=	p.P62=	ENST00000303635	NM_015215.2	62	ccG/ccT	0	1	1	UPI00001C1D72	0		ENST00000303635		ENSG00000171735	18806		35			HGNC	p.P62P		CAMTA1		SNV			1				ENST00000473578	protein_coding			hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Low_complexity_(Seg):seg		P		T		393/8444							YES	CAMTA1,synonymous_variant,p.=,ENST00000303635,NM_015215.2;CAMTA1,synonymous_variant,p.=,ENST00000439411,;CAMTA1,synonymous_variant,p.=,ENST00000473578,NM_001195563.1;CAMTA1,synonymous_variant,p.=,ENST00000467404,;CAMTA1,synonymous_variant,p.=,ENST00000557126,NM_001242701.1;CAMTA1,non_coding_transcript_exon_variant,,ENST00000476163,;CAMTA1,non_coding_transcript_exon_variant,,ENST00000490738,;CAMTA1,synonymous_variant,p.=,ENST00000482934,;CAMTA1,synonymous_variant,p.=,ENST00000461311,;CAMTA1,3_prime_UTR_variant,,ENST00000486138,;							LOW	186/5022		CMTA1_HUMAN			Transcript			.	ENSP00000306522		CCDS30576.1			1	
FZD2	0	LGGM	GRCh37	17	42636207	42636207	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	31	16	.	.	ENST00000315323.3:c.1151C>T	p.Thr384Ile	p.T384I	ENST00000315323	NM_001466.3	384	aCc/aTc	0	1	1	UPI0000050444	0	NA	ENST00000315323		ENSG00000180340	4040		47	3.44		HGNC	p.T384I		FZD2		SNV							ENST00000315323	protein_coding	getma.org/?cm=var&var=hg19,17,42636207,C,T&fts=all		Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF34		T/I		T	medium	1283/1983		getma.org/?cm=msa&ty=f&p=FZD2_HUMAN&rb=234&re=558&var=T384I	deleterious(0)	Q86UZ8_HUMAN			YES	FZD2,missense_variant,p.Thr384Ile,ENST00000315323,NM_001466.3;							MODERATE	1151/1698	T384I	FZD2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000323901		CCDS11484.1			1	
TAAR6	0	LGGM	GRCh37	6	132892050	132892050	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	42	16	.	.	ENST00000275198.1:c.590A>T	p.Asn197Ile	p.N197I	ENST00000275198	NM_175067.1	197	aAc/aTc	0	1	1	UPI000000D881	0	getma.org/pdb.php?prot=TAAR6_HUMAN&from=49&to=311&var=N197I	ENST00000275198		ENSG00000146383	20978		58	0.975		HGNC	p.N197I		TAAR6		SNV							ENST00000275198	protein_coding	getma.org/?cm=var&var=hg19,6,132892050,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF78,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		N/I		T	low	590/1038		getma.org/?cm=msa&ty=f&p=TAAR6_HUMAN&rb=49&re=311&var=N197I	tolerated(0.39)				YES	TAAR6,missense_variant,p.Asn197Ile,ENST00000275198,NM_175067.1;							MODERATE	590/1038	N197I	TAAR6_HUMAN			Transcript		benign(0.043)	.	ENSP00000275198		CCDS5155.1			1	
SRRT	0	LGGM	GRCh37	7	100485131	100485131	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	27	16	.	.	ENST00000347433.4:c.2166C>T	p.Phe722=	p.F722=	ENST00000347433		722	ttC/ttT	0	1	1	UPI0000126098	0		ENST00000347433		ENSG00000087087	24101		43			HGNC	p.F352F		SRRT		SNV							ENST00000448764	protein_coding			hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0,Pfam_domain:PF04959		F		T		2324/2904							YES	SRRT,synonymous_variant,p.=,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,synonymous_variant,p.=,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,synonymous_variant,p.=,ENST00000347433,;SRRT,synonymous_variant,p.=,ENST00000432932,;SRRT,synonymous_variant,p.=,ENST00000448764,;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.3;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000426415,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,non_coding_transcript_exon_variant,,ENST00000478693,;ACHE,downstream_gene_variant,,ENST00000454485,;ACHE,downstream_gene_variant,,ENST00000442452,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,downstream_gene_variant,,ENST00000487311,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000466432,;SRRT,downstream_gene_variant,,ENST00000469602,;							LOW	2166/2631		SRRT_HUMAN			Transcript			.	ENSP00000314491		CCDS34709.1			1	
SLC39A10	0	LGGM	GRCh37	2	196578190	196578190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	32	16	.	.	ENST00000409086.3:c.1609G>A	p.Glu537Lys	p.E537K	ENST00000409086	NM_001127257.1	537	Gaa/Aaa	0	1		UPI000004A043	0	NA	ENST00000359634		ENSG00000196950	20861		48	1.445		HGNC	p.E537K		SLC39A10		SNV							ENST00000359634	protein_coding	getma.org/?cm=var&var=hg19,2,196578190,G,A&fts=all		hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191,Pfam_domain:PF02535		E/K		A	low	1774/5322		getma.org/?cm=msa&ty=f&p=S39AA_HUMAN&rb=404&re=819&var=E537K	deleterious(0.04)	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN				SLC39A10,missense_variant,p.Glu537Lys,ENST00000409086,NM_001127257.1;SLC39A10,missense_variant,p.Glu537Lys,ENST00000359634,NM_020342.2;SLC39A10,missense_variant,p.Glu87Lys,ENST00000541054,;SLC39A10,3_prime_UTR_variant,,ENST00000430412,;SLC39A10,non_coding_transcript_exon_variant,,ENST00000465851,;							MODERATE	1609/2496	E537K	S39AA_HUMAN			Transcript		benign(0.068)	.	ENSP00000352655		CCDS33353.1			1	
PCDHA12	0	LGGM	GRCh37	5	140256734	140256734	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	53	17	.	.	ENST00000398631.2:c.1677C>T	p.Asn559=	p.N559=	ENST00000398631	NM_018903.2	559	aaC/aaT	0	1	1	UPI00001273D5	0		ENST00000398631		ENSG00000251664	8666		70			HGNC	p.N559N		PCDHA12		SNV							ENST00000398631	protein_coding			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		N		T		1677/5233							YES	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;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;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,;							LOW	1677/2826		PCDAC_HUMAN			Transcript			.	ENSP00000381628		CCDS47285.1			1	
AOC2	0	LGGM	GRCh37	17	41001716	41001716	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	60	17	.	.	ENST00000253799.3:c.1973A>G	p.Asp658Gly	p.D658G	ENST00000253799	NM_009590.2	658	gAc/gGc	0	1	1	UPI000013CDF4	0	getma.org/pdb.php?prot=AOC2_HUMAN&from=307&to=720&var=D658G	ENST00000253799		ENSG00000131480	549		77	2.7		HGNC	p.D658G	rs749469132	AOC2		SNV							ENST00000253799	protein_coding	getma.org/?cm=var&var=hg19,17,41001716,A,G&fts=all		Superfamily_domains:SSF49998,Gene3D:2.70.98.20,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4		D/G		G	medium	2000/2657	1.50E-05	getma.org/?cm=msa&ty=f&p=AOC2_HUMAN&rb=307&re=720&var=D658G	tolerated(0.05)				YES	AOC2,missense_variant,p.Asp658Gly,ENST00000253799,NM_009590.2;AOC2,missense_variant,p.Asp631Gly,ENST00000452774,NM_001158.3;AOC3,upstream_gene_variant,,ENST00000308423,NM_003734.3;AOC3,upstream_gene_variant,,ENST00000591562,NM_001277732.1;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000587330,;							MODERATE	1973/2271	D658G	AOC2_HUMAN			Transcript		benign(0.042)	.	ENSP00000253799	8.24E-06	CCDS11443.1			1	
XIRP2	0	LGGM	GRCh37	2	168107382	168107382	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	70	17	.	.	ENST00000409195.1:c.9480G>T	p.Ser3160=	p.S3160=	ENST00000409195	NM_152381.5	3160	tcG/tcT	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		87			HGNC	p.S2938S		XIRP2		SNV							ENST00000409273	protein_coding			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		S		T		9569/12675				J3KNB1_HUMAN			YES	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;							LOW	9480/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
GEN1	0	LGGM	GRCh37	2	17962102	17962102	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	13	17	.	.	ENST00000381254.2:c.1623A>G	p.Gln541=	p.Q541=	ENST00000381254	NM_001130009.1	541	caA/caG	0	1		UPI00004113DA	0		ENST00000317402		ENSG00000178295	26881		30			HGNC	p.Q541Q		GEN1		SNV							ENST00000317402	protein_coding			hmmpanther:PTHR11081:SF23,hmmpanther:PTHR11081		Q		G		1748/5722				E9PM30_HUMAN,E9PLG0_HUMAN				GEN1,synonymous_variant,p.=,ENST00000381254,NM_001130009.1;GEN1,synonymous_variant,p.=,ENST00000317402,NM_182625.3;SMC6,intron_variant,,ENST00000402989,;SMC6,intron_variant,,ENST00000428868,;GEN1,downstream_gene_variant,,ENST00000528873,;							LOW	1623/2727		GEN_HUMAN			Transcript			.	ENSP00000318977		CCDS1691.1			1	
NPR2	0	LGGM	GRCh37	9	35802543	35802543	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	28	17	.	.	ENST00000342694.2:c.1754C>A	p.Ala585Asp	p.A585D	ENST00000342694	NM_003995.3	585	gCc/gAc	0	1	1	UPI0000125B42	0	getma.org/pdb.php?prot=ANPRB_HUMAN&from=518&to=786&var=A585D	ENST00000342694		ENSG00000159899	7944		45	3.8		HGNC	p.A585D		NPR2		SNV			1				ENST00000342694	protein_coding	getma.org/?cm=var&var=hg19,9,35802543,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF231,Superfamily_domains:SSF56112		A/D		A	high	2009/3686		getma.org/?cm=msa&ty=f&p=ANPRB_HUMAN&rb=518&re=786&var=A585D	deleterious(0)				YES	NPR2,missense_variant,p.Ala585Asp,ENST00000342694,NM_003995.3;NPR2,upstream_gene_variant,,ENST00000421267,;NPR2,upstream_gene_variant,,ENST00000447210,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;NPR2,upstream_gene_variant,,ENST00000448821,;							MODERATE	1754/3144	A585D	ANPRB_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000341083		CCDS6590.1			1	
ZNF800	0	LGGM	GRCh37	7	127014593	127014593	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	37	18	.	.	ENST00000393313.1:c.797C>T	p.Thr266Ile	p.T266I	ENST00000393313		266	aCa/aTa	0	1		UPI000020FA03	0	NA	ENST00000265827		ENSG00000048405	27267		55	0.345		HGNC	p.T266I		ZNF800		SNV							ENST00000393313	protein_coding	getma.org/?cm=var&var=hg19,7,127014593,G,A&fts=all		hmmpanther:PTHR21020		T/I		A	neutral	1490/4203		getma.org/?cm=msa&ty=f&p=ZN800_HUMAN&rb=254&re=287&var=T266I	tolerated(0.14)	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN				ZNF800,missense_variant,p.Thr266Ile,ENST00000393313,;ZNF800,missense_variant,p.Thr266Ile,ENST00000265827,NM_176814.3;ZNF800,missense_variant,p.Thr266Ile,ENST00000393312,;ZNF800,downstream_gene_variant,,ENST00000434602,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,upstream_gene_variant,,ENST00000485577,;							MODERATE	797/1995	T266I	ZN800_HUMAN			Transcript		benign(0.003)	.	ENSP00000265827		CCDS5795.1			1	
ULK4	0	LGGM	GRCh37	3	41705108	41705108	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	18	18	.	.	ENST00000301831.4:c.3061A>G	p.Thr1021Ala	p.T1021A	ENST00000301831	NM_017886.2	1021	Act/Gct	0	1	1	UPI0000E8267C	0	NA	ENST00000301831		ENSG00000168038	15784		36	-0.55		HGNC	p.T1021A		ULK4		SNV							ENST00000301831	protein_coding	getma.org/?cm=var&var=hg19,3,41705108,T,C&fts=all		hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		T/A		C	neutral	3524/4613		getma.org/?cm=msa&ty=f&p=ULK4_HUMAN&rb=352&re=1250&var=T1021A	tolerated(1)	B3KSE5_HUMAN			YES	ULK4,missense_variant,p.Thr1021Ala,ENST00000301831,NM_017886.2;							MODERATE	3061/3828	T1021A	ULK4_HUMAN			Transcript		benign(0.001)	.	ENSP00000301831		CCDS43071.1			1	
KIF3A	0	LGGM	GRCh37	5	132037843	132037843	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	16	19	.	.	ENST00000378746.4:c.1739A>T	p.Gln580Leu	p.Q580L	ENST00000378746	NM_007054.5	580	cAa/cTa	0	1	1	UPI000035B258	0	NA	ENST00000378746		ENSG00000131437	6319		35	1.735		HGNC	p.Q580L		KIF3A		SNV							ENST00000378746	protein_coding	getma.org/?cm=var&var=hg19,5,132037843,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF53,hmmpanther:PTHR24115		Q/L		A	low	1958/6325		getma.org/?cm=msa&ty=f&p=KIF3A_HUMAN&rb=520&re=697&var=Q580L	tolerated(0.07)				YES	KIF3A,missense_variant,p.Gln580Leu,ENST00000378746,NM_007054.5;KIF3A,missense_variant,p.Gln583Leu,ENST00000378735,;KIF3A,missense_variant,p.Gln607Leu,ENST00000403231,;KIF3A,intron_variant,,ENST00000450441,;AC004237.1,intron_variant,,ENST00000431165,;KIF3A,non_coding_transcript_exon_variant,,ENST00000487055,;KIF3A,upstream_gene_variant,,ENST00000488471,;							MODERATE	1739/2100	Q580L	KIF3A_HUMAN			Transcript		benign(0.273)	.	ENSP00000368020		CCDS34235.1			1	
C7orf63	0	LGGM	GRCh37	7	89917560	89917560	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	23	19	.	.	ENST00000389297.4:c.1669A>G	p.Thr557Ala	p.T557A	ENST00000389297	NM_001039706.2	557	Act/Gct	0	1	1	UPI000066DA29	0	NA	ENST00000389297		ENSG00000105792	26107		42	2.125		HGNC	p.T140A		C7orf63		SNV							ENST00000449577	protein_coding	getma.org/?cm=var&var=hg19,7,89917560,A,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR14716,hmmpanther:PTHR14716:SF0,Superfamily_domains:SSF48371		T/A		G	medium	1920/3902		getma.org/?cm=msa&ty=f&p=CG063_HUMAN&rb=7&re=939&var=T557A	tolerated(0.49)	F8WBX7_HUMAN			YES	C7orf63,missense_variant,p.Thr557Ala,ENST00000389297,NM_001039706.2,NM_001160138.1;C7orf63,missense_variant,p.Thr557Ala,ENST00000316089,;C7orf63,missense_variant,p.Thr539Ala,ENST00000497910,;C7orf63,missense_variant,p.Thr440Ala,ENST00000457170,;C7orf63,missense_variant,p.Thr140Ala,ENST00000449577,;C7orf63,3_prime_UTR_variant,,ENST00000451029,;C7orf63,3_prime_UTR_variant,,ENST00000427396,;C7orf63,non_coding_transcript_exon_variant,,ENST00000475031,;C7orf63,downstream_gene_variant,,ENST00000491886,;							MODERATE	1669/2826	T557A	CG063_HUMAN			Transcript		benign(0.325)	.	ENSP00000373948		CCDS43613.2			1	
TBCCD1	0	LGGM	GRCh37	3	186276267	186276267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	44	19	.	.	ENST00000424280.1:c.431C>A	p.Pro144His	p.P144H	ENST00000424280	NM_001134415.1	144	cCc/cAc	0	1		UPI0000073055	0	NA	ENST00000338733		ENSG00000113838	25546		63	2.36		HGNC	p.P144H		TBCCD1		SNV							ENST00000413695	protein_coding	getma.org/?cm=var&var=hg19,3,186276267,G,T&fts=all		hmmpanther:PTHR16052		P/H		T	medium	560/2441		getma.org/?cm=msa&ty=f&p=TBCC1_HUMAN&rb=1&re=200&var=P144H	deleterious(0)	C9J4M0_HUMAN				TBCCD1,missense_variant,p.Pro144His,ENST00000424280,NM_001134415.1;TBCCD1,missense_variant,p.Pro144His,ENST00000338733,NM_018138.3;TBCCD1,missense_variant,p.Pro48His,ENST00000446782,;TBCCD1,missense_variant,p.Pro144His,ENST00000413695,;TBCCD1,missense_variant,p.Pro128His,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;							MODERATE	431/1674	P144H	TBCC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341652		CCDS3276.1			1	
FRAS1	0	LGGM	GRCh37	4	79399126	79399126	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	28	21	.	.	ENST00000264895.6:c.8009C>A	p.Thr2670Asn	p.T2670N	ENST00000264895	NM_025074.6	2670	aCc/aAc	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		49	2.61		HGNC	p.T2670N		FRAS1		SNV			1				ENST00000264895	protein_coding	getma.org/?cm=var&var=hg19,4,79399126,C,A&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		T/N		A	medium	8449/12479		getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=2658&re=2769&var=T2665N		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Thr2670Asn,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Thr899Asn,ENST00000512123,;							MODERATE	8009/12039	T2665N	FRAS1_HUMAN			Transcript		benign(0.072)	.	ENSP00000264895		CCDS54771.1			1	
RELN	0	LGGM	GRCh37	7	103183223	103183223	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	42	21	.	.	ENST00000428762.1:c.6626G>A	p.Gly2209Asp	p.G2209D	ENST00000428762	NM_005045.3	2209	gGc/gAc	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=2172&to=2371&var=G2209D	ENST00000428762		ENSG00000189056	9957		63	2.16		HGNC	p.G2209D		RELN		SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103183223,C,T&fts=all		hmmpanther:PTHR11841		G/D		T	medium	6786/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=2172&re=2371&var=G2209D	deleterious(0)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Gly2209Asp,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gly2209Asp,ENST00000424685,;RELN,missense_variant,p.Gly2209Asp,ENST00000343529,NM_173054.2;RELN,upstream_gene_variant,,ENST00000478148,;							MODERATE	6626/10383	G2209D	RELN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000392423		CCDS47680.1			1	
LRRC17	0	LGGM	GRCh37	7	102574928	102574928	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	22	22	.	.	ENST00000339431.4:c.568G>T	p.Ala190Ser	p.A190S	ENST00000339431	NM_001031692.2	190	Gcc/Tcc	0	1	1	UPI00000719CD	0	NA	ENST00000339431		ENSG00000128606	16895		44	2.93		HGNC	p.A190S	COSM3876752,COSM3876753	LRRC17		SNV						1,1	ENST00000339431	protein_coding	getma.org/?cm=var&var=hg19,7,102574928,G,T&fts=all		hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF22,Gene3D:3.80.10.10,SMART_domains:SM00082		A/S		T	medium	863/1963		getma.org/?cm=msa&ty=f&p=LRC17_HUMAN&rb=163&re=214&var=A190S	deleterious(0.01)	C9JT74_HUMAN			YES	LRRC17,missense_variant,p.Ala190Ser,ENST00000249377,NM_005824.2;LRRC17,missense_variant,p.Ala190Ser,ENST00000339431,NM_001031692.2;FBXL13,intron_variant,,ENST00000393772,NM_001287150.1;FBXL13,intron_variant,,ENST00000379308,;FBXL13,intron_variant,,ENST00000313221,NM_145032.3;FBXL13,intron_variant,,ENST00000436908,;FBXL13,intron_variant,,ENST00000379305,;FBXL13,intron_variant,,ENST00000455112,NM_001111038.1;FBXL13,intron_variant,,ENST00000379306,;FBXL13,intron_variant,,ENST00000456695,;LRRC17,downstream_gene_variant,,ENST00000455453,;FBXL13,intron_variant,,ENST00000477915,;LRRC17,upstream_gene_variant,,ENST00000485478,;FBXL13,upstream_gene_variant,,ENST00000468216,;LRRC17,downstream_gene_variant,,ENST00000498487,;FBXL13,intron_variant,,ENST00000448002,;					1,1		MODERATE	568/1326	A190S	LRC17_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000344242		CCDS34721.1			1	
TRPM1	0	LGGM	GRCh37	15	31354891	31354891	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	22	22	.	.	ENST00000542188.1:c.1031C>A	p.Ser344Tyr	p.S344Y	ENST00000542188	NM_001252020.1	344	tCc/tAc	0	1		UPI00001FE144	0	NA	ENST00000397795		ENSG00000134160	7146		44	2.25		HGNC	p.S327Y	rs555954648,COSM335025	TRPM1		SNV			1			0,1	ENST00000256552	protein_coding	getma.org/?cm=var&var=hg19,15,31354891,G,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13		S/Y		T	medium	1028/5687		getma.org/?cm=msa&ty=f&p=TRPM1_HUMAN&rb=201&re=400&var=S305Y	deleterious(0)	H0YKU7_HUMAN				TRPM1,missense_variant,p.Ser344Tyr,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Ser305Tyr,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Ser327Tyr,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Ser229Tyr,ENST00000558768,;TRPM1,missense_variant,p.Ser305Tyr,ENST00000558445,;TRPM1,intron_variant,,ENST00000559177,;MIR211,downstream_gene_variant,,ENST00000384969,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;TRPM1,3_prime_UTR_variant,,ENST00000560658,;TRPM1,non_coding_transcript_exon_variant,,ENST00000558070,;					0,1		MODERATE	914/4812	S305Y	TRPM1_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000380897		CCDS10024.2			1	
PIWIL1	0	LGGM	GRCh37	12	130841511	130841511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	7	23	.	.	ENST00000245255.3:c.1453G>A	p.Ala485Thr	p.A485T	ENST00000245255	NM_004764.4	485	Gca/Aca	0	1	1	UPI000007059F	0	NA	ENST00000245255		ENSG00000125207	9007		30	1.845		HGNC	p.A485T		PIWIL1		SNV							ENST00000245255	protein_coding	getma.org/?cm=var&var=hg19,12,130841511,G,A&fts=all		Superfamily_domains:SSF53098,Gene3D:3.40.50.2300,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31		A/T		A	low	1725/3897		getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=415&re=554&var=A485T	tolerated(0.29)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN			YES	PIWIL1,missense_variant,p.Ala485Thr,ENST00000245255,NM_004764.4,NM_001190971.1;							MODERATE	1453/2586	A485T	PIWL1_HUMAN			Transcript		benign(0.007)	.	ENSP00000245255		CCDS9268.1			1	
DRC1	0	LGGM	GRCh37	2	26652505	26652505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	33	23	.	.	ENST00000288710.2:c.550A>G	p.Thr184Ala	p.T184A	ENST00000288710	NM_145038.2	184	Aca/Gca	0	1	1	UPI000013DF36	0	NA	ENST00000288710		ENSG00000157856	24245		56	-0.955		HGNC	p.T184A		DRC1		SNV			1				ENST00000288710	protein_coding	getma.org/?cm=var&var=hg19,2,26652505,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1,Pfam_domain:PF14772		T/A		G	neutral	624/2491		getma.org/?cm=msa&ty=f&p=CC164_HUMAN&rb=113&re=301&var=T184A	tolerated(0.95)				YES	DRC1,missense_variant,p.Thr184Ala,ENST00000288710,NM_145038.2;DRC1,upstream_gene_variant,,ENST00000442810,;DRC1,upstream_gene_variant,,ENST00000483675,;DRC1,3_prime_UTR_variant,,ENST00000421869,;DRC1,non_coding_transcript_exon_variant,,ENST00000497651,;DRC1,non_coding_transcript_exon_variant,,ENST00000487307,;							MODERATE	550/2223	T184A	DRC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000288710		CCDS1723.1			1	
RBMS1	0	LGGM	GRCh37	2	161159881	161159881	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	40	23	.	.	ENST00000348849.3:c.520C>T	p.Arg174Cys	p.R174C	ENST00000348849	NM_002897.4	174	Cgt/Tgt	0	1	1	UPI00000713D4	0	getma.org/pdb.php?prot=RBMS1_HUMAN&from=143&to=209&var=R174C	ENST00000348849		ENSG00000153250	9907		63	3.215		HGNC	p.R141C	rs756517845	RBMS1		SNV							ENST00000409972	protein_coding	getma.org/?cm=var&var=hg19,2,161159881,G,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF211,hmmpanther:PTHR24011,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/C		A	medium	951/4273		getma.org/?cm=msa&ty=f&p=RBMS1_HUMAN&rb=143&re=209&var=R174C	deleterious(0.01)	Q9UEK5_HUMAN,E7EPF2_HUMAN			YES	RBMS1,missense_variant,p.Arg174Cys,ENST00000348849,NM_002897.4,NM_016836.3;RBMS1,missense_variant,p.Arg141Cys,ENST00000409972,;RBMS1,missense_variant,p.Arg174Cys,ENST00000392753,;RBMS1,missense_variant,p.Arg141Cys,ENST00000409075,;RBMS1,missense_variant,p.Arg141Cys,ENST00000409289,;RBMS1,downstream_gene_variant,,ENST00000428519,;RBMS1,non_coding_transcript_exon_variant,,ENST00000474820,;RBMS1,non_coding_transcript_exon_variant,,ENST00000492283,;RBMS1,non_coding_transcript_exon_variant,,ENST00000491781,;							MODERATE	520/1221	R174C	RBMS1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000294904		CCDS2213.1			1	
SETD1A	0	LGGM	GRCh37	16	30972756	30972756	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	32	23	.	.	ENST00000262519.8:c.415C>T	p.Arg139Cys	p.R139C	ENST00000262519	NM_014712.1	139	Cgt/Tgt	0	1	1	UPI00001C1FA9	0	getma.org/pdb.php?prot=SET1A_HUMAN&from=99&to=166&var=R139C	ENST00000262519		ENSG00000099381	29010		55	1.665		HGNC	p.R139C		SETD1A		SNV							ENST00000262519	protein_coding	getma.org/?cm=var&var=hg19,16,30972756,C,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/C		T	low	1101/6903		getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=99&re=166&var=R139C		C9J2Z9_HUMAN			YES	SETD1A,missense_variant,p.Arg139Cys,ENST00000262519,NM_014712.1;SETD1A,missense_variant,p.Arg139Cys,ENST00000452917,;ORAI3,downstream_gene_variant,,ENST00000562699,;AC135048.13,downstream_gene_variant,,ENST00000562642,;							MODERATE	415/5124	R139C	SET1A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000262519		CCDS32435.1			1	
CSNK2A1	0	LGGM	GRCh37	20	467094	467094	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	22	24	.	.	ENST00000217244.3:c.986A>G	p.Lys329Arg	p.K329R	ENST00000217244	NM_177559.2	329	aAg/aGg	0	1	1	UPI0000000CB5	0	NA	ENST00000217244		ENSG00000101266	2457		46	0.55		HGNC	p.K329R		CSNK2A1		SNV							ENST00000400227	protein_coding	getma.org/?cm=var&var=hg19,20,467094,T,C&fts=all		hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054		K/R		C	neutral	1362/4416		getma.org/?cm=msa&ty=f&p=CSK21_HUMAN&rb=325&re=391&var=K329R	tolerated(0.13)				YES	CSNK2A1,missense_variant,p.Lys329Arg,ENST00000217244,NM_177559.2;CSNK2A1,missense_variant,p.Lys329Arg,ENST00000349736,NM_001895.3;CSNK2A1,missense_variant,p.Lys329Arg,ENST00000400227,;CSNK2A1,missense_variant,p.Lys193Arg,ENST00000400217,NM_177560.2;							MODERATE	986/1176	K329R	CSK21_HUMAN			Transcript		benign(0.042)	.	ENSP00000217244		CCDS13003.1			1	
SRP72	0	LGGM	GRCh37	4	57357629	57357629	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	30	24	.	.	ENST00000342756.5:c.1535T>A	p.Met512Lys	p.M512K	ENST00000342756	NM_006947.3	512	aTg/aAg	0	1	1	UPI000013EEB0	0	NA	ENST00000342756		ENSG00000174780	11303		54	2.19		HGNC	p.M451K		SRP72		SNV			1				ENST00000510663	protein_coding	getma.org/?cm=var&var=hg19,4,57357629,T,A&fts=all		hmmpanther:PTHR14094:SF9,hmmpanther:PTHR14094,PIRSF_domain:PIRSF038922		M/K		A	medium	2256/3983		getma.org/?cm=msa&ty=f&p=SRP72_HUMAN&rb=471&re=555&var=M512K	deleterious(0.03)	Q86X80_HUMAN			YES	SRP72,missense_variant,p.Met512Lys,ENST00000342756,NM_006947.3;SRP72,missense_variant,p.Met451Lys,ENST00000510663,NM_001267722.1;SRP72,missense_variant,p.Met324Lys,ENST00000505314,;							MODERATE	1535/2016	M512K	SRP72_HUMAN			Transcript		benign(0.045)	.	ENSP00000342181		CCDS3506.1			1	
LETM2	0	LGGM	GRCh37	8	38250437	38250437	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	34	26	.	.	ENST00000523983.2:c.284T>C	p.Ile95Thr	p.I95T	ENST00000523983		95	aTt/aCt	0	1		UPI0000E0B540	0	NA	ENST00000379957		ENSG00000165046	14648		60	1.61		HGNC	p.I142T		LETM2		SNV							ENST00000526356	protein_coding	getma.org/?cm=var&var=hg19,8,38250437,T,C&fts=all		hmmpanther:PTHR14009,hmmpanther:PTHR14009:SF7,Pfam_domain:PF07766		I/T		C	low	552/1873		getma.org/?cm=msa&ty=f&p=LETM2_HUMAN&rb=119&re=386&var=I142T	deleterious(0.03)	E9PN52_HUMAN,E9PIC7_HUMAN				LETM2,missense_variant,p.Ile142Thr,ENST00000519476,NM_001286821.1;LETM2,missense_variant,p.Ile142Thr,ENST00000379957,NM_001199659.1,NM_001286819.1;LETM2,missense_variant,p.Ile95Thr,ENST00000523983,;LETM2,missense_variant,p.Ile95Thr,ENST00000297720,NM_144652.2;LETM2,missense_variant,p.Ile142Thr,ENST00000524874,;LETM2,missense_variant,p.Ile142Thr,ENST00000526356,;LETM2,upstream_gene_variant,,ENST00000527710,;LETM2,downstream_gene_variant,,ENST00000527334,;LETM2,missense_variant,p.Ile142Thr,ENST00000523268,NM_001286787.1,NM_001199660.2;LETM2,missense_variant,p.Ile95Thr,ENST00000518883,;LETM2,non_coding_transcript_exon_variant,,ENST00000518121,;							MODERATE	425/1476	I142T	LETM2_HUMAN			Transcript		benign(0.213)	.	ENSP00000369291		CCDS69466.1			1	
OSBPL2	0	LGGM	GRCh37	20	60848454	60848454	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	27	.	.	ENST00000313733.3:c.483A>T	p.Glu161Asp	p.E161D	ENST00000313733	NM_144498.2	161	gaA/gaT	0	1	1	UPI0000130E96	0	getma.org/pdb.php?prot=OSBL2_HUMAN&from=75&to=471&var=E161D	ENST00000313733		ENSG00000130703	15761		46	3.3		HGNC	p.E69D		OSBPL2		SNV			1				ENST00000439951	protein_coding	getma.org/?cm=var&var=hg19,20,60848454,A,T&fts=all		hmmpanther:PTHR10972:SF54,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579		E/D		T	medium	685/3970		getma.org/?cm=msa&ty=f&p=OSBL2_HUMAN&rb=75&re=471&var=E161D	deleterious(0.01)	H0Y7X4_HUMAN			YES	OSBPL2,missense_variant,p.Glu161Asp,ENST00000313733,NM_144498.2;OSBPL2,missense_variant,p.Glu149Asp,ENST00000358053,NM_014835.3;OSBPL2,missense_variant,p.Glu69Asp,ENST00000439951,NM_001278649.1;OSBPL2,missense_variant,p.Glu30Asp,ENST00000448156,;							MODERATE	483/1443	E161D	OSBL2_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000316649		CCDS13495.1			1	
FBXL13	0	LGGM	GRCh37	7	102462579	102462579	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060264	H060264N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	31	27	.	.	ENST00000313221.4:c.1926T>C	p.Cys642=	p.C642=	ENST00000313221	NM_145032.3	642	tgT/tgC	0	1	1	UPI000020F830	0		ENST00000313221		ENSG00000161040	21658		58			HGNC	p.C597C		FBXL13		SNV							ENST00000379308	protein_coding			hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF219,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047		C		G		2353/2744							YES	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,;FBXL13,3_prime_UTR_variant,,ENST00000448002,;							LOW	1926/2208		FXL13_HUMAN			Transcript			.	ENSP00000321927		CCDS5726.1			1	
LILRB1	0	LGGM	GRCh37	19	55143056	55143056	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	42	27	.	.	ENST00000324602.7:c.176G>A	p.Arg59His	p.R59H	ENST00000324602	NM_001278399.1	59	cGt/cAt	0	1	1	UPI0000034BFC	0	getma.org/pdb.php?prot=LIRB1_HUMAN&from=28&to=118&var=R59H	ENST00000324602		ENSG00000104972	6605	8.64E-05	69	-0.085		HGNC	p.R59H	rs774715846,COSM1612798	LILRB1	0.000182	SNV				9.62E-05		0,1	ENST00000448689	protein_coding	getma.org/?cm=var&var=hg19,19,55143056,G,A&fts=all		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		R/H		A	neutral	401/2834	8.99E-05	getma.org/?cm=msa&ty=f&p=LIRB1_HUMAN&rb=28&re=118&var=R59H	tolerated(1)				YES	LILRB1,missense_variant,p.Arg59His,ENST00000396331,NM_006669.5;LILRB1,missense_variant,p.Arg59His,ENST00000396327,NM_001081638.2,NM_001081639.2,NM_001278399.1;LILRB1,missense_variant,p.Arg59His,ENST00000324602,NM_001278399.1;LILRB1,missense_variant,p.Arg59His,ENST00000434867,;LILRB1,missense_variant,p.Arg59His,ENST00000396332,NM_001081637.1,NM_001278398.1;LILRB1,missense_variant,p.Arg95His,ENST00000427581,;LILRB1,missense_variant,p.Arg59His,ENST00000396315,;LILRB1,missense_variant,p.Arg59His,ENST00000396317,;LILRB1,missense_variant,p.Arg59His,ENST00000396321,;LILRB1,missense_variant,p.Arg59His,ENST00000418536,;LILRB1,missense_variant,p.Arg59His,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,missense_variant,p.Arg59His,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;					0,1		MODERATE	176/1959	R59H	LIRB1_HUMAN			Transcript		benign(0)	.	ENSP00000315997	0.000107	CCDS42614.1			1	
ATP5O	0	LGGM	GRCh37	21	35279736	35279736	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	27	30	.	.	ENST00000290299.2:c.350G>T	p.Arg117Leu	p.R117L	ENST00000290299	NM_001697.2	117	cGa/cTa	0	1	1	UPI00001265E8	0	getma.org/pdb.php?prot=ATPO_HUMAN&from=37&to=209&var=R117L	ENST00000290299		ENSG00000241837	850		57	3.885		HGNC	p.R117L		ATP5O		SNV							ENST00000290299	protein_coding	getma.org/?cm=var&var=hg19,21,35279736,C,A&fts=all		Superfamily_domains:0034989,Gene3D:1abvA00,HAMAP:MF_01416,Pfam_domain:PF00213,Prints_domain:PR00125,Prints_domain:PR00125,hmmpanther:PTHR11910,hmmpanther:PTHR11910:SF6,TIGRFAM_domain:TIGR01145		R/L		A	high	567/932		getma.org/?cm=msa&ty=f&p=ATPO_HUMAN&rb=37&re=209&var=R117L	deleterious(0)				YES	ATP5O,missense_variant,p.Arg117Leu,ENST00000290299,NM_001697.2;AP000304.12,missense_variant,p.Arg66Leu,ENST00000429238,;ATP5O,missense_variant,p.Arg13Leu,ENST00000418933,;ATP5O,downstream_gene_variant,,ENST00000496044,;ATP5O,downstream_gene_variant,,ENST00000487374,;ATP5O,downstream_gene_variant,,ENST00000484627,;ATP5O,missense_variant,p.Asp74Tyr,ENST00000431254,;ATP5O,non_coding_transcript_exon_variant,,ENST00000491703,;ATP5O,downstream_gene_variant,,ENST00000495005,;ATP5O,upstream_gene_variant,,ENST00000417181,;ATP5O,upstream_gene_variant,,ENST00000429064,;							MODERATE	350/642	R117L	ATPO_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000290299		CCDS13634.1			1	
TET1	0	LGGM	GRCh37	10	70450995	70450995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	31	.	.	ENST00000373644.4:c.5835C>A	p.Phe1945Leu	p.F1945L	ENST00000373644	NM_030625.2	1945	ttC/ttA	0	1	1	UPI000013D114	0	NA	ENST00000373644		ENSG00000138336	29484		50	1.12		HGNC	p.F1945L		TET1		SNV							ENST00000373644	protein_coding	getma.org/?cm=var&var=hg19,10,70450995,C,A&fts=all		Pfam_domain:PF12851,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2		F/L		A	low	6044/9288		getma.org/?cm=msa&ty=f&p=TET1_HUMAN&rb=1580&re=2052&var=F1945L	tolerated(0.98)				YES	TET1,missense_variant,p.Phe1945Leu,ENST00000373644,NM_030625.2;							MODERATE	5835/6411	F1945L	TET1_HUMAN			Transcript		benign(0.015)	.	ENSP00000362748		CCDS7281.1			1	
LACTB2	0	LGGM	GRCh37	8	71574042	71574042	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	40	32	.	.	ENST00000276590.4:c.213G>C	p.Gln71His	p.Q71H	ENST00000276590	NM_016027.2	71	caG/caC	0	1	1	UPI00000382DA	0	getma.org/pdb.php?prot=LACB2_HUMAN&from=26&to=199&var=Q71H	ENST00000276590		ENSG00000147592	18512		72	1.295		HGNC	p.Q71H		LACTB2		SNV							ENST00000522447	protein_coding	getma.org/?cm=var&var=hg19,8,71574042,C,G&fts=all		hmmpanther:PTHR23131:SF0,hmmpanther:PTHR23131,Gene3D:3.60.15.10,Pfam_domain:PF00753,SMART_domains:SM00849,Superfamily_domains:SSF56281		Q/H		G	low	250/1508		getma.org/?cm=msa&ty=f&p=LACB2_HUMAN&rb=26&re=199&var=Q71H	deleterious(0.04)				YES	LACTB2,missense_variant,p.Gln71His,ENST00000276590,NM_016027.2;LACTB2,missense_variant,p.Gln71His,ENST00000522447,;RP11-382J12.1,3_prime_UTR_variant,,ENST00000499227,;							MODERATE	213/867	Q71H	LACB2_HUMAN			Transcript		benign(0.119)	.	ENSP00000276590		CCDS6208.1			1	
EYS	0	LGGM	GRCh37	6	66094355	66094355	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	30	33	.	.	ENST00000503581.1:c.1223C>A	p.Ala408Glu	p.A408E	ENST00000503581	NM_001142800.1	408	gCa/gAa	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		63	-0.465		HGNC	p.A408E	rs766283859	EYS	6.11E-05	SNV			1				ENST00000342421	protein_coding	getma.org/?cm=var&var=hg19,6,66094355,G,T&fts=all		Gene3D:2.10.25.10,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		A/E		T	neutral	1223/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=253&re=452&var=A408E	tolerated(1)					EYS,missense_variant,p.Ala408Glu,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ala408Glu,ENST00000370621,;EYS,missense_variant,p.Ala408Glu,ENST00000370616,;EYS,missense_variant,p.Ala408Glu,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Ala408Glu,ENST00000370618,;EYS,missense_variant,p.Ala408Glu,ENST00000342421,NM_198283.1;							MODERATE	1223/9498	A408E	EYS_HUMAN			Transcript		benign(0.001)	.	ENSP00000359650	8.24E-06				1	
ATXN3	0	LGGM	GRCh37	14	92555103	92555103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	82	33	.	.	ENST00000393287.5:c.446C>T	p.Ala149Val	p.A149V	ENST00000393287		149	gCa/gTa	0	1		UPI00001694ED	0	getma.org/pdb.php?prot=ATX3_HUMAN&from=8&to=168&var=A149V	ENST00000532032		ENSG00000066427	7106		115	1.39		HGNC	p.A149V		ATXN3		SNV			1				ENST00000554673	protein_coding	getma.org/?cm=var&var=hg19,14,92555103,G,A&fts=all		PROSITE_profiles:PS50957,hmmpanther:PTHR14159:SF1,hmmpanther:PTHR14159,Pfam_domain:PF02099		A/V		A	low	456/1191		getma.org/?cm=msa&ty=f&p=ATX3_HUMAN&rb=8&re=168&var=A149V	deleterious(0.03)	G3V4F4_HUMAN,G3V2G2_HUMAN,D3VVM7_HUMAN,D3VVL3_HUMAN,D3VVJ0_HUMAN,D3VVF1_HUMAN,D3VVD5_HUMAN,D3VVC1_HUMAN				ATXN3,missense_variant,p.Ala149Val,ENST00000545170,NM_004993.5,NM_001164776.1,NM_001164778.1,NM_001164774.1,NM_001164777.1;ATXN3,missense_variant,p.Ala134Val,ENST00000429774,NM_001127696.1,NM_001164779.1,NM_001164782.1;ATXN3,missense_variant,p.Ala149Val,ENST00000393287,;ATXN3,missense_variant,p.Ala134Val,ENST00000503767,;ATXN3,missense_variant,p.Ala94Val,ENST00000340660,NM_030660.4;ATXN3,missense_variant,p.Ala149Val,ENST00000532032,;ATXN3,missense_variant,p.Ala148Val,ENST00000554592,;ATXN3,missense_variant,p.Ala98Val,ENST00000553491,NM_001127697.2;ATXN3,missense_variant,p.Ala79Val,ENST00000555381,NM_001164781.1;ATXN3,missense_variant,p.Ala51Val,ENST00000554672,;ATXN3,missense_variant,p.Ala43Val,ENST00000556220,;ATXN3,missense_variant,p.Ala83Val,ENST00000506466,;ATXN3,5_prime_UTR_variant,,ENST00000502250,NM_001164780.1;ATXN3,intron_variant,,ENST00000526872,;ATXN3,intron_variant,,ENST00000557311,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554491,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553309,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553498,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553686,;ATXN3,non_coding_transcript_exon_variant,,ENST00000555958,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554214,;ATXN3,non_coding_transcript_exon_variant,,ENST00000553287,;ATXN3,non_coding_transcript_exon_variant,,ENST00000554040,;ATXN3,intron_variant,,ENST00000556339,;ATXN3,intron_variant,,ENST00000556644,;ATXN3,intron_variant,,ENST00000526245,;ATXN3,downstream_gene_variant,,ENST00000511362,;ATXN3,downstream_gene_variant,,ENST00000504047,;ATXN3,missense_variant,p.Ala149Val,ENST00000556898,;ATXN3,missense_variant,p.Ala149Val,ENST00000554673,;ATXN3,missense_variant,p.Ala98Val,ENST00000556671,;ATXN3,missense_variant,p.Ala83Val,ENST00000557030,;ATXN3,3_prime_UTR_variant,,ENST00000359366,;ATXN3,3_prime_UTR_variant,,ENST00000556374,;ATXN3,3_prime_UTR_variant,,ENST00000553488,;ATXN3,3_prime_UTR_variant,,ENST00000554350,;ATXN3,3_prime_UTR_variant,,ENST00000556315,;ATXN3,3_prime_UTR_variant,,ENST00000556274,;ATXN3,3_prime_UTR_variant,,ENST00000556288,;ATXN3,3_prime_UTR_variant,,ENST00000555816,;ATXN3,3_prime_UTR_variant,,ENST00000556082,;ATXN3,intron_variant,,ENST00000554994,;ATXN3,intron_variant,,ENST00000556958,;ATXN3,intron_variant,,ENST00000553570,;ATXN3,intron_variant,,ENST00000515746,;ATXN3,downstream_gene_variant,,ENST00000507965,;							MODERATE	446/1095	A149V	ATX3_HUMAN			Transcript		benign(0.135)	.	ENSP00000437157					1	
ABCG1	0	LGGM	GRCh37	21	43708138	43708138	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	19	36	.	.	ENST00000361802.2:c.1113C>A	p.Pro371=	p.P371=	ENST00000361802	NM_004915.3	371	ccC/ccA	0	1	1	UPI0000125130	0		ENST00000361802		ENSG00000160179	73		55			HGNC	p.P517P	COSM1031024,COSM1031025	ABCG1		SNV						1,1	ENST00000398437	protein_coding			hmmpanther:PTHR19241:SF177,hmmpanther:PTHR19241,TIGRFAM_domain:TIGR00955		P		A		1258/3034				O43576_HUMAN			YES	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,downstream_gene_variant,,ENST00000450121,;ABCG1,non_coding_transcript_exon_variant,,ENST00000462050,;ABCG1,non_coding_transcript_exon_variant,,ENST00000472587,;ABCG1,non_coding_transcript_exon_variant,,ENST00000496783,;ABCG1,downstream_gene_variant,,ENST00000467818,;					1,1		LOW	1113/2037		ABCG1_HUMAN			Transcript			.	ENSP00000354995		CCDS13682.1			1	
CEBPZ	0	LGGM	GRCh37	2	37455179	37455179	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	22	37	.	.	ENST00000234170.5:c.1157A>G	p.Gln386Arg	p.Q386R	ENST00000234170	NM_005760.2	386	cAa/cGa	0	1	1	UPI0000072AAB	0	NA	ENST00000234170		ENSG00000115816	24218		59	0.895		HGNC	p.Q386R		CEBPZ		SNV							ENST00000234170	protein_coding	getma.org/?cm=var&var=hg19,2,37455179,T,C&fts=all		hmmpanther:PTHR12048,Superfamily_domains:SSF48371		Q/R		C	low	1303/3463		getma.org/?cm=msa&ty=f&p=CEBPZ_HUMAN&rb=310&re=509&var=Q386R	tolerated(0.48)				YES	CEBPZ,missense_variant,p.Gln386Arg,ENST00000234170,NM_005760.2;NDUFAF7,upstream_gene_variant,,ENST00000002125,NM_144736.4;NDUFAF7,upstream_gene_variant,,ENST00000336237,NM_001083946.1;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;CEBPZ,downstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;							MODERATE	1157/3165	Q386R	CEBPZ_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000234170		CCDS1787.1			1	
UFL1	0	LGGM	GRCh37	6	96997582	96997582	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	52	38	.	.	ENST00000369278.4:c.1725G>A	p.Lys575=	p.K575=	ENST00000369278	NM_015323.4	575	aaG/aaA	0	1	1	UPI0000072D61	0		ENST00000369278		ENSG00000014123	23039		90			HGNC	p.K575K		UFL1		SNV							ENST00000369278	protein_coding			hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0		K		A		1791/4224				B7ZAY8_HUMAN			YES	UFL1,synonymous_variant,p.=,ENST00000369278,NM_015323.4;							LOW	1725/2385		UFL1_HUMAN			Transcript			.	ENSP00000358283		CCDS5034.1			1	
GPRASP2	0	LGGM	GRCh37	X	101970604	101970604	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	22	45	.	.	ENST00000543253.1:c.807G>T	p.Arg269Ser	p.R269S	ENST00000543253	NM_001184874.2	269	agG/agT	0	1		UPI000006F01A	0	NA	ENST00000332262		ENSG00000158301	25169		67	1.585		HGNC	p.R269S		GPRASP2		SNV							ENST00000543253	protein_coding	getma.org/?cm=var&var=hg19,X,101970604,G,T&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10		R/S		T	low	1663/3720		getma.org/?cm=msa&ty=f&p=GASP2_HUMAN&rb=160&re=359&var=R269S	tolerated(0.1)					GPRASP2,missense_variant,p.Arg269Ser,ENST00000543253,NM_001184874.2,NM_001184876.2,NM_001004051.3;GPRASP2,missense_variant,p.Arg269Ser,ENST00000535209,;GPRASP2,missense_variant,p.Arg269Ser,ENST00000332262,NM_138437.5,NM_001184875.2;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,;							MODERATE	807/2517	R269S	GASP2_HUMAN			Transcript		benign(0.022)	.	ENSP00000339057		CCDS14501.1			1	
ZNF347	0	LGGM	GRCh37	19	53652571	53652571	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	58	49	.	.	ENST00000452676.2:c.65G>A	p.Trp22Ter	p.W22*	ENST00000452676	NM_001172674.1	22	tGg/tAg	0	1		UPI000049DED1	0	NA	ENST00000334197		ENSG00000197937	16447		107	0		HGNC	p.W22X	rs746456096	ZNF347		SNV							ENST00000452676	protein_coding	getma.org/?cm=var&var=hg19,19,53652571,C,T&fts=all		Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_profiles:PS50805		W/*		T	NA	134/4193		NA		M0R1E9_HUMAN,M0QZE2_HUMAN,M0QXR8_HUMAN				ZNF347,stop_gained,p.Trp22Ter,ENST00000452676,NM_001172674.1;ZNF347,stop_gained,p.Trp22Ter,ENST00000334197,NM_032584.2;ZNF347,stop_gained,p.Trp22Ter,ENST00000601469,NM_001172675.1;ZNF347,stop_gained,p.Trp22Ter,ENST00000599096,;ZNF347,5_prime_UTR_variant,,ENST00000595967,;ZNF347,intron_variant,,ENST00000597183,;ZNF347,intron_variant,,ENST00000601804,;ZNF347,non_coding_transcript_exon_variant,,ENST00000595710,;							HIGH	65/2520	W22*	ZN347_HUMAN			Transcript			.	ENSP00000334146		CCDS33097.1			1	
SMC1B	0	LGGM	GRCh37	22	45798419	45798419	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	40	51	.	.	ENST00000357450.4:c.648G>A	p.Leu216=	p.L216=	ENST00000357450	NM_148674.3	216	ctG/ctA	0	1	1	UPI000042146E	0		ENST00000357450		ENSG00000077935	11112		91			HGNC	p.L216L		SMC1B		SNV							ENST00000404354	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF147		L		T		648/4201							YES	SMC1B,synonymous_variant,p.=,ENST00000357450,NM_148674.3;SMC1B,synonymous_variant,p.=,ENST00000404354,;							LOW	648/3708		SMC1B_HUMAN			Transcript			.	ENSP00000350036		CCDS43027.1			1	
OSBPL3	0	LGGM	GRCh37	7	24870485	24870485	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	73	53	.	.	ENST00000313367.2:c.1786A>T	p.Ser596Cys	p.S596C	ENST00000313367	NM_015550.2	596	Agc/Tgc	0	1	1	UPI0000001244	0	getma.org/pdb.php?prot=OSBL3_HUMAN&from=527&to=872&var=S596C	ENST00000313367		ENSG00000070882	16370		126	3.015		HGNC	p.S565C		OSBPL3		SNV							ENST00000352860	protein_coding	getma.org/?cm=var&var=hg19,7,24870485,T,A&fts=all		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF15,Low_complexity_(Seg):seg		S/C		A	medium	2238/6760		getma.org/?cm=msa&ty=f&p=OSBL3_HUMAN&rb=527&re=872&var=S596C	deleterious(0)	C9JZ19_HUMAN,C9JEF2_HUMAN,C9J8P4_HUMAN			YES	OSBPL3,missense_variant,p.Ser596Cys,ENST00000313367,NM_015550.2;OSBPL3,missense_variant,p.Ser565Cys,ENST00000352860,NM_145320.1;OSBPL3,missense_variant,p.Ser560Cys,ENST00000353930,NM_145321.1;OSBPL3,missense_variant,p.Ser529Cys,ENST00000431825,NM_145322.1;OSBPL3,missense_variant,p.Ser565Cys,ENST00000396431,;OSBPL3,missense_variant,p.Ser560Cys,ENST00000396429,;OSBPL3,missense_variant,p.Ser529Cys,ENST00000409069,;OSBPL3,3_prime_UTR_variant,,ENST00000409863,;OSBPL3,3_prime_UTR_variant,,ENST00000409452,;OSBPL3,3_prime_UTR_variant,,ENST00000409759,;OSBPL3,3_prime_UTR_variant,,ENST00000409555,;							MODERATE	1786/2664	S596C	OSBL3_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000315410		CCDS5390.1			1	
EIF5B	0	LGGM	GRCh37	2	99992984	99992984	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060264	H060264N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	67	58	.	.	ENST00000289371.6:c.1727G>T	p.Gly576Val	p.G576V	ENST00000289371	NM_015904.3	576	gGg/gTg	0	1	1	UPI0000207EC7	0	NA	ENST00000289371		ENSG00000158417	30793		125	1.7		HGNC	p.G576V		EIF5B		SNV							ENST00000289371	protein_coding	getma.org/?cm=var&var=hg19,2,99992984,G,T&fts=all		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF99		G/V		T	low	1929/5777		getma.org/?cm=msa&ty=f&p=IF2P_HUMAN&rb=1&re=619&var=G576V		D3DVI5_HUMAN			YES	EIF5B,missense_variant,p.Gly576Val,ENST00000289371,NM_015904.3;							MODERATE	1727/3663	G576V	IF2P_HUMAN			Transcript		benign(0.004)	.	ENSP00000289371		CCDS42721.1			1	
WDR49	0	LGGM	GRCh37	3	167338313	167338313	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H060264	H060264N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	60	58	.	.	ENST00000308378.3:c.-65-16057A>T		*22*	ENST00000308378	NM_178824.3			0	1	1	UPI00000746AD	0		ENST00000308378		ENSG00000174776	26587		118			HGNC	p.T288S		WDR49		SNV							ENST00000479765	protein_coding							A		-/2594							YES	WDR49,missense_variant,p.Thr12Ser,ENST00000472600,;WDR49,missense_variant,p.Thr288Ser,ENST00000479765,;WDR49,5_prime_UTR_variant,,ENST00000453925,;WDR49,intron_variant,,ENST00000308378,NM_178824.3;WDR49,intron_variant,,ENST00000466760,;WDR49,downstream_gene_variant,,ENST00000488012,;WDR49,intron_variant,,ENST00000460448,;							MODIFIER	-/2094		WDR49_HUMAN			Transcript			.	ENSP00000311343		CCDS3201.1			1	
ZNF654	0	LGGM	GRCh37	3	88189215	88189215	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060264	H060264N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	100	119	.	.	ENST00000309495.5:c.755C>T	p.Ser252Phe	p.S252F	ENST00000309495	NM_018293.2	252	tCt/tTt	0	1	1	UPI0000DD0307	0	NA	ENST00000309495		ENSG00000175105	25612		219	2.35		HGNC	p.S252F		ZNF654		SNV							ENST00000309495	protein_coding	getma.org/?cm=var&var=hg19,3,88189215,C,T&fts=all		hmmpanther:PTHR15507,PROSITE_patterns:PS00028,SMART_domains:SM00355		S/F		T	medium	962/4966		getma.org/?cm=msa&ty=f&p=ZN654_HUMAN&rb=248&re=447&var=S252F	deleterious(0.01)				YES	ZNF654,missense_variant,p.Ser252Phe,ENST00000309495,NM_018293.2;CGGBP1,intron_variant,,ENST00000462901,;CGGBP1,intron_variant,,ENST00000467332,;RP11-159G9.5,downstream_gene_variant,,ENST00000473136,;RP11-159G9.5,downstream_gene_variant,,ENST00000498458,;							MODERATE	755/1746	S252F	ZN654_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000312141		CCDS46874.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1791517	1791517	+	splice_acceptor_variant	Splice_Site	DEL	A	A	-	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	4	2	.	.	ENST00000349830.3:c.-47-2del		p.X16_splice	ENST00000349830	NM_014629.2			0	1		UPI0000D89824	0		ENST00000398564		ENSG00000104728	14103		6			HGNC	-		ARHGEF10		deletion			1				ENST00000398560	protein_coding							-		-/5480								ARHGEF10,splice_acceptor_variant,,ENST00000518288,;ARHGEF10,splice_acceptor_variant,,ENST00000349830,NM_014629.2;ARHGEF10,splice_acceptor_variant,,ENST00000398564,;ARHGEF10,splice_acceptor_variant,,ENST00000520359,;ARHGEF10,splice_acceptor_variant,,ENST00000262112,;ARHGEF10,splice_acceptor_variant,,ENST00000398560,;							HIGH	26/4110		ARHGA_HUMAN			Transcript			.	ENSP00000381571					1	
PCDH19	0	LGGM	GRCh37	X	99663068	99663068	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	6	2	.	.	ENST00000373034.4:c.528G>T	p.Leu176=	p.L176=	ENST00000373034	NM_001184880.1	176	ctG/ctT	0	1	1	UPI00001D7BCD	0		ENST00000373034		ENSG00000165194	14270		8			HGNC	p.L176L		PCDH19		SNV			1				ENST00000420881	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		A		2204/9756							YES	PCDH19,synonymous_variant,p.=,ENST00000373034,NM_001184880.1;PCDH19,synonymous_variant,p.=,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,synonymous_variant,p.=,ENST00000420881,;							LOW	528/3447		PCD19_HUMAN			Transcript			.	ENSP00000362125		CCDS55462.1			1	
ARHGAP39	0	LGGM	GRCh37	8	145771146	145771146	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	1	2	.	.	ENST00000377307.2:c.2008C>T	p.Arg670Cys	p.R670C	ENST00000377307	NM_025251.1	670	Cgc/Tgc	0	1		UPI000012DDC2	0	NA	ENST00000276826		ENSG00000147799	29351		3	1.67		HGNC	p.R670C		ARHGAP39		SNV							ENST00000276826	protein_coding	getma.org/?cm=var&var=hg19,8,145771146,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177		R/C		A	low	2210/4697		getma.org/?cm=msa&ty=f&p=RHG39_HUMAN&rb=116&re=689&var=R670C	deleterious(0.02)					ARHGAP39,missense_variant,p.Arg670Cys,ENST00000276826,;ARHGAP39,missense_variant,p.Arg670Cys,ENST00000377307,NM_025251.1;ARHGAP39,missense_variant,p.Arg670Cys,ENST00000540274,;ARHGAP39,upstream_gene_variant,,ENST00000528810,;AC084125.1,upstream_gene_variant,,ENST00000536320,;							MODERATE	2008/3252	R670C	RHG39_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000276826					1	
PPP5D1P	0	LGGM	GRCh37	19	47030183	47030183	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	2	2	.	.	ENST00000414155.1:c.234G>T	p.Met78Ile	p.M78I	ENST00000414155		78	atG/atT	0	1	1	UPI00001D817D	0	getma.org/pdb.php?prot=E7EU14_HUMAN&from=40&to=124&var=M78I	ENST00000414155		ENSG00000230510	44209		4	0.57		HGNC	p.M78I		PPP5D1		SNV							ENST00000414155	protein_coding	getma.org/?cm=var&var=hg19,19,47030183,C,A&fts=all		Pfam_domain:PF08321		M/I		A	neutral	465/1882		getma.org/?cm=msa&ty=f&p=E7EU14_HUMAN&rb=40&re=124&var=M78I	tolerated(0.59)				YES	PPP5D1,missense_variant,p.Met78Ile,ENST00000414155,;PPP5D1,missense_variant,p.Met66Ile,ENST00000602017,NM_001205281.1;PPP5D1,splice_region_variant,,ENST00000593359,;							MODERATE	234/516	M78I	PP5D1_HUMAN			Transcript		benign(0.033)	.	ENSP00000392262					1	
VCX3A	0	LGGM	GRCh37	X	6451979	6451979	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	9	3	.	.	ENST00000381089.3:c.368C>T	p.Pro123Leu	p.P123L	ENST00000381089	NM_016379.3	123	cCa/cTa	0	1	1	UPI0000138292	0	NA	ENST00000381089		ENSG00000169059	18159		12	1.7		HGNC	p.P123L	rs370955913	VCX3A		SNV							ENST00000381089	protein_coding	getma.org/?cm=var&var=hg19,X,6451979,G,A&fts=all		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Low_complexity_(Seg):seg		P/L		A	low	675/995		getma.org/?cm=msa&ty=f&p=VCX3_HUMAN&rb=1&re=180&var=P123L	deleterious(0)				YES	VCX3A,missense_variant,p.Pro123Leu,ENST00000381089,NM_016379.3;VCX3A,intron_variant,,ENST00000398729,;							MODERATE	368/561	P123L	VCX3_HUMAN			Transcript		unknown(0)	.	ENSP00000370479		CCDS35199.1			1	
EDIL3	0	LGGM	GRCh37	5	83356262	83356262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	33	3	.	.	ENST00000296591.5:c.994G>T	p.Asp332Tyr	p.D332Y	ENST00000296591	NM_005711.4	332	Gac/Tac	0	1	1	UPI000004D126	0	getma.org/pdb.php?prot=EDIL3_HUMAN&from=319&to=476&var=D332Y	ENST00000296591		ENSG00000164176	3173		36	4.06		HGNC	p.D332Y		EDIL3		SNV							ENST00000296591	protein_coding	getma.org/?cm=var&var=hg19,5,83356262,C,A&fts=all		Superfamily_domains:SSF49785,SMART_domains:SM00231,Gene3D:2.60.120.260,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50022		D/Y		A	high	1413/4727		getma.org/?cm=msa&ty=f&p=EDIL3_HUMAN&rb=319&re=476&var=D332Y	deleterious(0)				YES	EDIL3,missense_variant,p.Asp332Tyr,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Asp322Tyr,ENST00000380138,NM_001278642.1;EDIL3,non_coding_transcript_exon_variant,,ENST00000510271,;							MODERATE	994/1443	D332Y	EDIL3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000296591		CCDS4062.1			1	
APC2	0	LGGM	GRCh37	19	1465687	1465687	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	3	3	.	.	ENST00000535453.1:c.2387C>T	p.Pro796Leu	p.P796L	ENST00000535453		796	cCa/cTa	0	1		UPI0000073D85	0	NA	ENST00000233607		ENSG00000115266	24036		6	0.895		HGNC	p.P796L		APC2		SNV			1				ENST00000535453	protein_coding	getma.org/?cm=var&var=hg19,19,1465687,C,T&fts=all		hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF3,Low_complexity_(Seg):seg		P/L		T	low	2595/10151		getma.org/?cm=msa&ty=f&p=APC2_HUMAN&rb=655&re=854&var=P796L		K7ELQ3_HUMAN,K7EN62_HUMAN				APC2,missense_variant,p.Pro796Leu,ENST00000535453,;APC2,missense_variant,p.Pro796Leu,ENST00000233607,NM_005883.2;APC2,missense_variant,p.Pro522Leu,ENST00000238483,;C19orf25,intron_variant,,ENST00000588427,;APC2,downstream_gene_variant,,ENST00000590469,;CTB-25B13.12,upstream_gene_variant,,ENST00000588225,;APC2,downstream_gene_variant,,ENST00000593146,;							MODERATE	2387/6912	P796L	APC2_HUMAN			Transcript		benign(0.027)	.	ENSP00000233607		CCDS12068.1			1	
ZBTB3	0	LGGM	GRCh37	11	62520017	62520017	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	19	3	.	.	ENST00000394807.3:c.1270C>T	p.His424Tyr	p.H424Y	ENST00000394807	NM_024784.3	424	Cat/Tat	0	1	1	UPI00000711FD	0	NA	ENST00000394807		ENSG00000185670	22918		22	0.805		HGNC	p.H424Y		ZBTB3		SNV							ENST00000394807	protein_coding	getma.org/?cm=var&var=hg19,11,62520017,G,A&fts=all		hmmpanther:PTHR23228:SF23,hmmpanther:PTHR23228		H/Y		A	low	1396/2978		getma.org/?cm=msa&ty=f&p=ZBTB3_HUMAN&rb=221&re=461&var=H424Y	tolerated(0.28)	E9PPE9_HUMAN			YES	ZBTB3,missense_variant,p.His424Tyr,ENST00000394807,NM_024784.3;ZBTB3,downstream_gene_variant,,ENST00000527994,;ZBTB3,upstream_gene_variant,,ENST00000530112,;							MODERATE	1270/1725	H424Y	ZBTB3_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000378286		CCDS8034.1			1	
LRRC16A	0	LGGM	GRCh37	6	25606302	25606302	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	29	3	.	.	ENST00000329474.6:c.3648C>G	p.His1216Gln	p.H1216Q	ENST00000329474	NM_001173977.1	1216	caC/caG	0	1	1	UPI00004588AB	0	NA	ENST00000329474		ENSG00000079691	21581		32	0.41		HGNC	p.H1216Q		LRRC16A		SNV							ENST00000329474	protein_coding	getma.org/?cm=var&var=hg19,6,25606302,C,G&fts=all		hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF39		H/Q		G	neutral	4016/5431		getma.org/?cm=msa&ty=f&p=LR16A_HUMAN&rb=938&re=1369&var=H1216Q	tolerated_low_confidence(0.65)				YES	LRRC16A,missense_variant,p.His1216Gln,ENST00000329474,NM_001173977.1,NM_017640.5;LRRC16A,upstream_gene_variant,,ENST00000476458,;							MODERATE	3648/4116	H1216Q	LR16A_HUMAN			Transcript		benign(0.001)	.	ENSP00000331983		CCDS54973.1			1	
TYRP1	0	LGGM	GRCh37	9	12702443	12702443	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	C	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	5	4	.	.	ENST00000388918.5:c.1081+5G>C		p.X361_splice	ENST00000388918	NM_000550.2			0	1	1	UPI0000039DCA	0		ENST00000388918		ENSG00000107165	12450		9			HGNC	-		TYRP1		SNV			1				ENST00000381137	protein_coding							C		-/2851				C9JZ52_HUMAN,B4DNE6_HUMAN			YES	TYRP1,splice_donor_variant,,ENST00000381137,;TYRP1,splice_region_variant,,ENST00000388918,NM_000550.2;TYRP1,splice_region_variant,,ENST00000381136,;RP11-3L8.3,intron_variant,,ENST00000417638,;TYRP1,splice_region_variant,,ENST00000381142,;TYRP1,downstream_gene_variant,,ENST00000470909,;							LOW	-/1614		TYRP1_HUMAN			Transcript			.	ENSP00000373570		CCDS34990.1			1	
PLXNA1	0	LGGM	GRCh37	3	126724030	126724030	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	2	4	.	.	ENST00000393409.2:c.1841G>A	p.Arg614Gln	p.R614Q	ENST00000393409	NM_032242.3	614	cGg/cAg	0	1	1	UPI00001A7983	0	getma.org/pdb.php?prot=PLXA1_HUMAN&from=565&to=659&var=R614Q	ENST00000393409		ENSG00000114554	9099		6	-0.06		HGNC	p.R614Q	rs752717809	PLXNA1	0.000134	SNV							ENST00000393409	protein_coding	getma.org/?cm=var&var=hg19,3,126724030,G,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35		R/Q		A	neutral	1841/9066	1.72E-05	getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=565&re=659&var=R614Q	tolerated(1)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Arg614Gln,ENST00000393409,NM_032242.3;PLXNA1,missense_variant,p.Arg591Gln,ENST00000251772,;							MODERATE	1841/5691	R614Q	PLXA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000377061	3.31E-05	CCDS33847.2			1	
EFCAB7	0	LGGM	GRCh37	1	63991268	63991268	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	40	4	.	.	ENST00000371088.4:c.25G>A	p.Ala9Thr	p.A9T	ENST00000371088	NM_032437.2	9	Gca/Aca	0	1	1	UPI000006EAB2	0	NA	ENST00000371088		ENSG00000203965	29379		44	1.61		HGNC	p.A9T	COSM193980	EFCAB7		SNV						1	ENST00000371088	protein_coding	getma.org/?cm=var&var=hg19,1,63991268,G,A&fts=all		hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF138		A/T		A	low	271/2313		getma.org/?cm=msa&ty=f&p=EFCB7_HUMAN&rb=1&re=200&var=A9T	tolerated(0.41)				YES	EFCAB7,missense_variant,p.Ala9Thr,ENST00000371088,NM_032437.2;ITGB3BP,upstream_gene_variant,,ENST00000371092,NM_001206739.1;ITGB3BP,upstream_gene_variant,,ENST00000271002,NM_014288.4;ITGB3BP,upstream_gene_variant,,ENST00000283568,;RN7SL488P,downstream_gene_variant,,ENST00000585186,;EFCAB7,non_coding_transcript_exon_variant,,ENST00000480886,;ITGB3BP,intron_variant,,ENST00000478138,;ITGB3BP,upstream_gene_variant,,ENST00000465781,;ITGB3BP,upstream_gene_variant,,ENST00000460251,;ITGB3BP,upstream_gene_variant,,ENST00000460394,;ITGB3BP,upstream_gene_variant,,ENST00000462285,;ITGB3BP,upstream_gene_variant,,ENST00000489863,;ITGB3BP,upstream_gene_variant,,ENST00000489099,;					1		MODERATE	25/1890	A9T	EFCB7_HUMAN			Transcript		benign(0.004)	.	ENSP00000360129		CCDS30737.1			1	
NCR1	0	LGGM	GRCh37	19	55420659	55420659	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	19	4	.	.	ENST00000291890.4:c.411A>G	p.Gly137=	p.G137=	ENST00000291890	NM_004829.6	137	ggA/ggG	0	1	1	UPI00000726A9	0		ENST00000291890		ENSG00000189430	6731		23			HGNC	p.G137G		NCR1		SNV							ENST00000447255	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13927,Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF14		G		G		449/1155							YES	NCR1,synonymous_variant,p.=,ENST00000594765,;NCR1,synonymous_variant,p.=,ENST00000291890,NM_004829.6;NCR1,synonymous_variant,p.=,ENST00000447255,NM_001145457.2;NCR1,synonymous_variant,p.=,ENST00000598576,;NCR1,synonymous_variant,p.=,ENST00000338835,NM_001145458.2;NCR1,synonymous_variant,p.=,ENST00000350790,NM_001242356.2;NCR1,synonymous_variant,p.=,ENST00000357397,;NCR1,non_coding_transcript_exon_variant,,ENST00000601137,;NCR1,downstream_gene_variant,,ENST00000601903,;							LOW	411/915		NCTR1_HUMAN			Transcript			.	ENSP00000291890		CCDS12911.1			1	
PLD3	0	LGGM	GRCh37	19	40876061	40876061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	10	4	.	.	ENST00000409587.1:c.595G>A	p.Val199Ile	p.V199I	ENST00000409587		199	Gtc/Atc	0	1		UPI000004FA75	0	NA	ENST00000356508		ENSG00000105223	17158		14	0.805		HGNC	p.V199I	rs745451549	PLD3		SNV							ENST00000409735	protein_coding	getma.org/?cm=var&var=hg19,19,40876061,G,A&fts=all		PROSITE_profiles:PS50035,hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF16,Gene3D:3.30.870.10,SMART_domains:SM00155,Superfamily_domains:SSF56024		V/I		A	low	718/1906	3.14E-05	getma.org/?cm=msa&ty=f&p=PLD3_HUMAN&rb=176&re=243&var=V199I	tolerated(0.12)	M0R2E7_HUMAN,M0R1F7_HUMAN,M0QZK2_HUMAN,M0QY94_HUMAN,M0QX99_HUMAN,M0QX50_HUMAN,E2QRG1_HUMAN,E2QRD3_HUMAN				PLD3,missense_variant,p.Val199Ile,ENST00000409587,;PLD3,missense_variant,p.Val199Ile,ENST00000409735,NM_012268.2;PLD3,missense_variant,p.Val199Ile,ENST00000409281,;PLD3,missense_variant,p.Val199Ile,ENST00000409419,;PLD3,missense_variant,p.Val199Ile,ENST00000356508,NM_001031696.2;PLD3,missense_variant,p.Val199Ile,ENST00000594908,;PLD3,missense_variant,p.Val87Ile,ENST00000599353,;PLD3,downstream_gene_variant,,ENST00000392032,;PLD3,upstream_gene_variant,,ENST00000596470,;PLD3,downstream_gene_variant,,ENST00000359274,;PLD3,downstream_gene_variant,,ENST00000598962,;PLD3,downstream_gene_variant,,ENST00000599685,;PLD3,downstream_gene_variant,,ENST00000600948,;PLD3,downstream_gene_variant,,ENST00000602131,;PLD3,downstream_gene_variant,,ENST00000596682,;PLD3,downstream_gene_variant,,ENST00000594085,;PLD3,downstream_gene_variant,,ENST00000600479,;PLD3,3_prime_UTR_variant,,ENST00000492243,;PLD3,non_coding_transcript_exon_variant,,ENST00000480030,;PLD3,downstream_gene_variant,,ENST00000485448,;PLD3,upstream_gene_variant,,ENST00000475983,;PLD3,downstream_gene_variant,,ENST00000493006,;PLD3,downstream_gene_variant,,ENST00000464586,;	0.000236						MODERATE	595/1473	V199I	PLD3_HUMAN	0.000167		Transcript		benign(0.041)	.	ENSP00000348901	4.94E-05	CCDS33027.1			1	
SACS	0	LGGM	GRCh37	13	23912537	23912537	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	47	4	.	.	ENST00000382298.3:c.5478A>G	p.Thr1826=	p.T1826=	ENST00000382298	NM_014363.5	1826	acA/acG	0	1		UPI000047039D	0		ENST00000382292		ENSG00000151835	10519		51			HGNC	p.T1076T		SACS		SNV			1				ENST00000402364	protein_coding			hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		T		C		5752/15324								SACS,synonymous_variant,p.=,ENST00000382298,NM_014363.5;SACS,synonymous_variant,p.=,ENST00000382292,;SACS,synonymous_variant,p.=,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							LOW	5478/13740		SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
DNAAF1	0	LGGM	GRCh37	16	84188196	84188196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	27	4	.	.	ENST00000378553.5:c.367G>A	p.Glu123Lys	p.E123K	ENST00000378553	NM_178452.4	123	Gag/Aag	0	1	1	UPI000059D3C9	0	getma.org/pdb.php?prot=DAAF1_HUMAN&from=1&to=200&var=E123K	ENST00000378553		ENSG00000154099	30539		31	1.86		HGNC	p.E123K		DNAAF1		SNV			1				ENST00000378553	protein_coding	getma.org/?cm=var&var=hg19,16,84188196,G,A&fts=all		Superfamily_domains:0046394,Gene3D:3.80.10.10,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208		E/K		A	low	491/2379		getma.org/?cm=msa&ty=f&p=DAAF1_HUMAN&rb=1&re=200&var=E123K	deleterious(0)	H3BP51_HUMAN			YES	DNAAF1,missense_variant,p.Glu123Lys,ENST00000378553,NM_178452.4;DNAAF1,missense_variant,p.Glu123Lys,ENST00000334315,;DNAAF1,upstream_gene_variant,,ENST00000563818,;DNAAF1,upstream_gene_variant,,ENST00000567666,;DNAAF1,missense_variant,p.Glu123Lys,ENST00000563093,;DNAAF1,missense_variant,p.Glu123Lys,ENST00000567918,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;							MODERATE	367/2178	E123K	DAAF1_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000367815		CCDS10943.2			1	
DIP2C	0	LGGM	GRCh37	10	375410	375410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	5	4	.	.	ENST00000280886.6:c.3716G>T	p.Cys1239Phe	p.C1239F	ENST00000280886	NM_014974.2	1239	tGc/tTc	0	1	1	UPI00001833B9	0	getma.org/pdb.php?prot=DIP2C_HUMAN&from=1003&to=1475&var=C1239F	ENST00000280886		ENSG00000151240	29150		9	2.47		HGNC	p.C1239F		DIP2C		SNV							ENST00000280886	protein_coding	getma.org/?cm=var&var=hg19,10,375410,C,A&fts=all		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801		C/F		A	medium	3804/7894		getma.org/?cm=msa&ty=f&p=DIP2C_HUMAN&rb=1003&re=1475&var=C1239F	deleterious(0)				YES	DIP2C,missense_variant,p.Cys1239Phe,ENST00000280886,NM_014974.2;DIP2C,missense_variant,p.Cys20Phe,ENST00000434695,;							MODERATE	3716/4671	C1239F	DIP2C_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000280886		CCDS7054.1			1	
ROBO1	0	LGGM	GRCh37	3	78719385	78719385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	9	4	.	.	ENST00000464233.1:c.1409G>A	p.Gly470Asp	p.G470D	ENST00000464233	NM_002941.3	470	gGc/gAc	0	1	1	UPI00000713D9	0	getma.org/pdb.php?prot=ROBO1_HUMAN&from=455&to=542&var=G470D	ENST00000464233		ENSG00000169855	10249		13	0.515		HGNC	p.G470D	rs376852736	ROBO1		SNV	T:0						ENST00000464233	protein_coding	getma.org/?cm=var&var=hg19,3,78719385,C,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50835		G/D	T:0.0001	T	neutral	1523/6742	3.10E-05	getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=455&re=542&var=G470D	deleterious(0.01)				YES	ROBO1,missense_variant,p.Gly431Asp,ENST00000436010,;ROBO1,missense_variant,p.Gly470Asp,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Gly434Asp,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Gly434Asp,ENST00000467549,;ROBO1,missense_variant,p.Gly3Asp,ENST00000495961,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,non_coding_transcript_exon_variant,,ENST00000484514,;							MODERATE	1409/4956	G470D	ROBO1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000420321	8.29E-06	CCDS54611.1			1	
TRMT11	0	LGGM	GRCh37	6	126333918	126333918	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	32	4	.	.	ENST00000334379.5:c.927T>G	p.Pro309=	p.P309=	ENST00000334379	NM_001031712.2	309	ccT/ccG	0	1	1	UPI000014DBD1	0		ENST00000334379		ENSG00000066651	21080		36			HGNC	p.P309P		TRMT11		SNV							ENST00000368332	protein_coding			Gene3D:3.40.50.150,Pfam_domain:PF01170,PIRSF_domain:PIRSF017259,Prints_domain:PR00507,PROSITE_patterns:PS00092,PROSITE_profiles:PS51627,hmmpanther:PTHR13370,hmmpanther:PTHR13370:SF3,Superfamily_domains:SSF53335		P		G		1048/1949				Q5JY02_HUMAN,Q5JY01_HUMAN			YES	TRMT11,splice_region_variant,p.=,ENST00000334379,NM_001031712.2;TRMT11,splice_region_variant,p.=,ENST00000368332,;TRMT11,splice_region_variant,,ENST00000466316,;TRMT11,splice_region_variant,p.=,ENST00000453993,;TRMT11,downstream_gene_variant,,ENST00000450358,;TRMT11,splice_region_variant,,ENST00000479748,;TRMT11,downstream_gene_variant,,ENST00000468097,;TRMT11,downstream_gene_variant,,ENST00000461129,;							LOW	927/1392		TRM11_HUMAN			Transcript			.	ENSP00000333934		CCDS35496.1			1	
UBE3A	0	LGGM	GRCh37	15	25616168	25616168	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	39	5	.	.	ENST00000397954.2:c.1162G>C	p.Val388Leu	p.V388L	ENST00000397954		388	Gtg/Ctg	0	1	1	UPI0000161F3B	0	NA	ENST00000397954		ENSG00000114062	12496		44	-0.585		HGNC	p.V365L		UBE3A		SNV			1				ENST00000566215	protein_coding	getma.org/?cm=var&var=hg19,15,25616168,C,G&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,PIRSF_domain:PIRSF037201		V/L		G	neutral	1162/2628		getma.org/?cm=msa&ty=f&p=UBE3A_HUMAN&rb=11&re=495&var=V388L	tolerated(1)	Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN			YES	UBE3A,missense_variant,p.Val385Leu,ENST00000232165,NM_130839.2,NM_000462.3;UBE3A,missense_variant,p.Val365Leu,ENST00000438097,NM_130838.1;UBE3A,missense_variant,p.Val365Leu,ENST00000566215,;UBE3A,missense_variant,p.Val365Leu,ENST00000428984,;UBE3A,missense_variant,p.Val388Leu,ENST00000397954,;SNHG14,intron_variant,,ENST00000554726,;							MODERATE	1162/2628	V388L	UBE3A_HUMAN			Transcript		benign(0.001)	.	ENSP00000381045		CCDS45192.1			1	
CHAF1A	0	LGGM	GRCh37	19	4432009	4432009	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	29	5	.	.	ENST00000301280.5:c.2008G>A	p.Glu670Lys	p.E670K	ENST00000301280	NM_005483.2	670	Gag/Aag	0	1	1	UPI00002030F8	0	NA	ENST00000301280		ENSG00000167670	1910		34	2.015		HGNC	p.E670K		CHAF1A		SNV							ENST00000301280	protein_coding	getma.org/?cm=var&var=hg19,19,4432009,G,A&fts=all		Pfam_domain:PF15539,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0		E/K		A	medium	2109/3339		getma.org/?cm=msa&ty=f&p=CAF1A_HUMAN&rb=636&re=835&var=E670K	deleterious(0)				YES	CHAF1A,missense_variant,p.Glu670Lys,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,;							MODERATE	2008/2871	E670K	CAF1A_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000301280		CCDS32875.1			1	
XYLT1	0	LGGM	GRCh37	16	17292110	17292110	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	9	5	.	.	ENST00000261381.6:c.1248G>A	p.Trp416Ter	p.W416*	ENST00000261381	NM_022166.3	416	tgG/tgA	0	1	1	UPI000000DCCE	0	NA	ENST00000261381		ENSG00000103489	15516		14	0		HGNC	p.W416X		XYLT1		SNV			1				ENST00000261381	protein_coding	getma.org/?cm=var&var=hg19,16,17292110,C,T&fts=all		Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91		W/*		T	NA	1333/9891		NA					YES	XYLT1,stop_gained,p.Trp416Ter,ENST00000261381,NM_022166.3;XYLT1,non_coding_transcript_exon_variant,,ENST00000575674,;							HIGH	1248/2880	W416*	XYLT1_HUMAN			Transcript			.	ENSP00000261381		CCDS10569.1			1	
SETD2	0	LGGM	GRCh37	3	47079221	47079221	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	11	6	.	.	ENST00000409792.3:c.7285G>A	p.Ala2429Thr	p.A2429T	ENST00000409792	NM_014159.6	2429	Gcc/Acc	0	1	1	UPI00017E10FB	0	NA	ENST00000409792		ENSG00000181555	18420		17	0.205		HGNC	p.A2429T		SETD2		SNV			1				ENST00000409792	protein_coding	getma.org/?cm=var&var=hg19,3,47079221,C,T&fts=all				A/T		T	neutral	7328/8142		getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=2421&re=2464&var=A2429T	tolerated(0.17)	C9JG86_HUMAN			YES	SETD2,missense_variant,p.Ala2429Thr,ENST00000409792,NM_014159.6;SETD2,3_prime_UTR_variant,,ENST00000330022,;SETD2,3_prime_UTR_variant,,ENST00000431180,;SETD2,3_prime_UTR_variant,,ENST00000445387,;SETD2,non_coding_transcript_exon_variant,,ENST00000479832,;							MODERATE	7285/7695	A2429T	SETD2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000386759		CCDS2749.2			1	
ABCA13	0	LGGM	GRCh37	7	48443285	48443285	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	51	6	.	.	ENST00000435803.1:c.11879T>C	p.Leu3960Pro	p.L3960P	ENST00000435803	NM_152701.3	3960	cTt/cCt	0	1	1	UPI00001A95EA	0	getma.org/pdb.php?prot=ABCAD_HUMAN&from=3882&to=4004&var=L3960P	ENST00000435803		ENSG00000179869	14638		57	4.335		HGNC	p.L3960P		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48443285,T,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893		L/P		C	high	11903/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3882&re=4004&var=L3960P					YES	ABCA13,missense_variant,p.Leu3960Pro,ENST00000435803,NM_152701.3;ABCA13,missense_variant,p.Leu226Pro,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;							MODERATE	11879/15177	L3960P	ABCAD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000411096		CCDS47584.1			1	
CACNA1G	0	LGGM	GRCh37	17	48703880	48703880	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	40	7	.	.	ENST00000359106.5:c.6902G>A	p.Arg2301Gln	p.R2301Q	ENST00000359106	NM_018896.4	2301	cGg/cAg	0	1	1	UPI000012727A	0	NA	ENST00000359106		ENSG00000006283	1394		47	2.005		HGNC	p.R2095Q	rs757138454	CACNA1G	0.000115	SNV				0.000202			ENST00000358244	protein_coding	getma.org/?cm=var&var=hg19,17,48703880,G,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137		R/Q		A	medium	6902/7648	2.59E-05	getma.org/?cm=msa&ty=f&p=CAC1G_HUMAN&rb=2251&re=2377&var=R2301Q	deleterious_low_confidence(0.01)				YES	CACNA1G,missense_variant,p.Arg2174Gln,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,missense_variant,p.Arg2267Gln,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Arg2301Gln,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Arg2185Gln,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,missense_variant,p.Arg2167Gln,ENST00000442258,;CACNA1G,missense_variant,p.Arg2190Gln,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,missense_variant,p.Arg2290Gln,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Arg2095Gln,ENST00000358244,;CACNA1G,missense_variant,p.Arg2256Gln,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Arg2245Gln,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Arg2238Gln,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Arg2230Gln,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Arg2222Gln,ENST00000510115,;CACNA1G,missense_variant,p.Arg2215Gln,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Arg2211Gln,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Arg2208Gln,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Arg2201Gln,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Arg2197Gln,ENST00000512389,;CACNA1G,missense_variant,p.Arg2183Gln,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Arg2174Gln,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Arg2163Gln,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,missense_variant,p.Arg2156Gln,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Arg2151Gln,ENST00000514717,;CACNA1G,missense_variant,p.Arg2129Gln,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Arg2118Gln,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,;							MODERATE	6902/7134	R2301Q	CAC1G_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000352011	4.16E-05	CCDS45730.1			1	
SP110	0	LGGM	GRCh37	2	231081506	231081506	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	23	7	.	.	ENST00000258381.6:c.137G>C	p.Arg46Thr	p.R46T	ENST00000258381	NM_080424.2	46	aGa/aCa	0	1		UPI000013D98F	0	NA	ENST00000358662		ENSG00000135899	5401		30	0.29		HGNC	p.R46T		SP110		SNV			1				ENST00000409815	protein_coding	getma.org/?cm=var&var=hg19,2,231081506,C,G&fts=all		PROSITE_profiles:PS51414,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46,Pfam_domain:PF03172		R/T		G	neutral	216/2337		getma.org/?cm=msa&ty=f&p=SP110_HUMAN&rb=6&re=109&var=R46T	tolerated(0.42)	Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN				SP110,missense_variant,p.Arg46Thr,ENST00000258381,NM_080424.2;SP110,missense_variant,p.Arg46Thr,ENST00000358662,NM_004509.3;SP110,missense_variant,p.Arg46Thr,ENST00000258382,NM_004510.3;SP110,missense_variant,p.Arg52Thr,ENST00000540870,NM_001185015.1;SP110,missense_variant,p.Arg46Thr,ENST00000392048,;SP110,missense_variant,p.Arg46Thr,ENST00000409815,;SP110,missense_variant,p.Arg46Thr,ENST00000416610,;SP110,5_prime_UTR_variant,,ENST00000338556,;SP110,5_prime_UTR_variant,,ENST00000455674,;SP140,intron_variant,,ENST00000456542,;SP110,intron_variant,,ENST00000462232,;SP110,upstream_gene_variant,,ENST00000486146,;SP140,downstream_gene_variant,,ENST00000441657,;							MODERATE	137/2070	R46T	SP110_HUMAN			Transcript		benign(0.036)	.	ENSP00000351488		CCDS2474.1			1	
PRDM13	0	LGGM	GRCh37	6	100061822	100061822	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	10	7	.	.	ENST00000369215.4:c.1311G>A	p.Pro437=	p.P437=	ENST00000369215	NM_021620.3	437	ccG/ccA	0	1	1	UPI000047099D	0		ENST00000369215		ENSG00000112238	13998	9.20E-05	17			HGNC	p.P447P	rs768832684	PRDM13		SNV							ENST00000369214	protein_coding			hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228		P		A		1616/2429				Q7Z5E7_HUMAN			YES	PRDM13,synonymous_variant,p.=,ENST00000369215,NM_021620.3;PRDM13,3_prime_UTR_variant,,ENST00000369214,;							LOW	1311/2124		PRD13_HUMAN			Transcript			.	ENSP00000358217	8.44E-06	CCDS43487.1			1	
MOSPD2	0	LGGM	GRCh37	X	14918696	14918696	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	1	8	.	.	ENST00000380492.3:c.478-1G>A		p.X160_splice	ENST00000380492	NM_152581.3			0	1	1	UPI00000735BA	0		ENST00000380492		ENSG00000130150	28381		9			HGNC	-		MOSPD2		SNV							ENST00000380492	protein_coding							A		-/4163							YES	MOSPD2,splice_acceptor_variant,,ENST00000380492,NM_152581.3,NM_001177475.1;MOSPD2,splice_acceptor_variant,,ENST00000482354,;MOSPD2,splice_acceptor_variant,,ENST00000495110,;							HIGH	478/1557		MSPD2_HUMAN			Transcript			.	ENSP00000369860		CCDS14162.1			1	
MAP4K5	0	LGGM	GRCh37	14	50941811	50941811	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	33	8	.	.	ENST00000013125.4:c.526A>G	p.Ile176Val	p.I176V	ENST00000013125	NM_198794.2	176	Att/Gtt	0	1	1	UPI00015DFDAA	0	getma.org/pdb.php?prot=M4K5_HUMAN&from=20&to=277&var=I176V	ENST00000013125		ENSG00000012983	6867		41	-0.16		HGNC	p.I176V		MAP4K5		SNV							ENST00000013125	protein_coding	getma.org/?cm=var&var=hg19,14,50941811,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF038172,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V		C	neutral	845/4354		getma.org/?cm=msa&ty=f&p=M4K5_HUMAN&rb=20&re=277&var=I176V	deleterious(0)	G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN			YES	MAP4K5,missense_variant,p.Ile176Val,ENST00000013125,NM_198794.2,NM_006575.4;MAP4K5,incomplete_terminal_codon_variant,p.=,ENST00000555216,;MAP4K5,downstream_gene_variant,,ENST00000557390,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000557578,;MAP4K5,3_prime_UTR_variant,,ENST00000554091,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000557210,;							MODERATE	526/2541	I176V	M4K5_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000013125					1	
ECT2L	0	LGGM	GRCh37	6	139197656	139197656	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	12	8	.	.	ENST00000423192.1:c.1626C>A	p.Leu542=	p.L542=	ENST00000423192		542	ctC/ctA	0	1		UPI0000E86804	0		ENST00000367682		ENSG00000203734	21118		20			HGNC	p.L473L		ECT2L		SNV							ENST00000541398	protein_coding			hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF70		L		A		1729/4261				B7ZBI6_HUMAN				ECT2L,synonymous_variant,p.=,ENST00000423192,;ECT2L,synonymous_variant,p.=,ENST00000367682,NM_001077706.2,NM_001195037.2;ECT2L,synonymous_variant,p.=,ENST00000541398,;RP3-509I19.6,downstream_gene_variant,,ENST00000572284,;RP3-509I19.6,downstream_gene_variant,,ENST00000404494,;							LOW	1626/2715		ECT2L_HUMAN			Transcript			.	ENSP00000356655		CCDS43508.1			1	
COL11A1	0	LGGM	GRCh37	1	103343720	103343720	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	14	8	.	.	ENST00000370096.3:c.5276C>T	p.Ser1759Phe	p.S1759F	ENST00000370096	NM_001854.3	1759	tCc/tTc	0	1	1	UPI00002053EF	0	NA	ENST00000370096		ENSG00000060718	2186		22	1.445		HGNC	p.S1759F		COL11A1		SNV			1				ENST00000370096	protein_coding	getma.org/?cm=var&var=hg19,1,103343720,G,A&fts=all		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,SMART_domains:SM00038		S/F		A	low	5589/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=1593&re=1804&var=S1759F		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Ser1771Phe,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Ser1759Phe,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Ser1720Phe,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Ser1643Phe,ENST00000512756,NM_080630.3;COL11A1,splice_region_variant,,ENST00000470170,;							MODERATE	5276/5421	S1759F	COBA1_HUMAN			Transcript		unknown(0)	.	ENSP00000359114		CCDS778.1			1	
PTGFRN	0	LGGM	GRCh37	1	117492170	117492170	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	7	9	.	.	ENST00000393203.2:c.1189G>A	p.Ala397Thr	p.A397T	ENST00000393203	NM_020440.2	397	Gct/Act	0	1	1	UPI000012ABC4	0	NA	ENST00000393203		ENSG00000134247	9601		16	1.5		HGNC	p.A397T		PTGFRN		SNV							ENST00000393203	protein_coding	getma.org/?cm=var&var=hg19,1,117492170,G,A&fts=all		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF3		A/T		A	low	1336/6178		getma.org/?cm=msa&ty=f&p=FPRP_HUMAN&rb=356&re=438&var=A397T	tolerated(0.09)	Q9H3U3_HUMAN			YES	PTGFRN,missense_variant,p.Ala397Thr,ENST00000393203,NM_020440.2;							MODERATE	1189/2640	A397T	FPRP_HUMAN			Transcript		benign(0.006)	.	ENSP00000376899		CCDS890.1			1	
FREM1	0	LGGM	GRCh37	9	14819381	14819381	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	70	9	.	.	ENST00000422223.2:c.2397C>T	p.His799=	p.H799=	ENST00000422223	NM_144966.5	799	caC/caT	0	1		UPI000057A218	0		ENST00000380880		ENSG00000164946	23399		79			HGNC	p.H799H		FREM1		SNV			1				ENST00000380880	protein_coding			hmmpanther:PTHR11878:SF24,hmmpanther:PTHR11878		H		A		3181/7324								FREM1,synonymous_variant,p.=,ENST00000380881,;FREM1,synonymous_variant,p.=,ENST00000422223,NM_144966.5;FREM1,synonymous_variant,p.=,ENST00000380880,;FREM1,synonymous_variant,p.=,ENST00000380875,;							LOW	2397/6540		FREM1_HUMAN			Transcript			.	ENSP00000370262		CCDS47952.1			1	
PODN	0	LGGM	GRCh37	1	53546450	53546450	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	7	9	.	.	ENST00000312553.5:c.1707C>T	p.Pro569=	p.P569=	ENST00000312553	NM_001199081.1	569	ccC/ccT	0	1	1	UPI000034ECE9	0		ENST00000312553		ENSG00000174348	23174		16			HGNC	p.P427P	rs758940588	PODN		SNV							ENST00000395871	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24369:SF12,hmmpanther:PTHR24369,Gene3D:3.80.10.10,SMART_domains:SM00364,SMART_domains:SM00368,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058		P		T		1714/3010	4.51E-05						YES	PODN,synonymous_variant,p.=,ENST00000371500,NM_001199080.1;PODN,synonymous_variant,p.=,ENST00000312553,NM_001199081.1,NM_153703.4;PODN,synonymous_variant,p.=,ENST00000395871,NM_001199082.1;RP11-334A14.5,intron_variant,,ENST00000447867,;PODN,non_coding_transcript_exon_variant,,ENST00000471285,;PODN,intron_variant,,ENST00000490650,;	0.000348						LOW	1707/1986		PODN_HUMAN			Transcript			.	ENSP00000308315	4.94E-05	CCDS573.1			1	
DACH1	0	LGGM	GRCh37	13	72440334	72440334	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	17	9	.	.	ENST00000305425.4:c.574A>G	p.Met192Val	p.M192V	ENST00000305425	NM_080759.4	192	Atg/Gtg	0	1	1	UPI00001FCE9E	0	getma.org/pdb.php?prot=DACH1_HUMAN&from=166&to=282&var=M190V	ENST00000305425		ENSG00000165659	2663		26	1.67		HGNC	p.M192V		DACH1		SNV							ENST00000313174	protein_coding	getma.org/?cm=var&var=hg19,13,72440334,T,C&fts=all		Gene3D:3.10.260.20,Pfam_domain:PF02437,hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14,Superfamily_domains:SSF46955		M/V		C	low	997/5239		getma.org/?cm=msa&ty=f&p=DACH1_HUMAN&rb=166&re=282&var=M190V					YES	DACH1,missense_variant,p.Met192Val,ENST00000305425,NM_080759.4;DACH1,missense_variant,p.Met192Val,ENST00000313174,NM_080760.4;DACH1,missense_variant,p.Met192Val,ENST00000354591,NM_004392.5;DACH1,missense_variant,p.Met192Val,ENST00000359684,;							MODERATE	574/2127	M190V	DACH1_HUMAN			Transcript		benign(0.143)	.	ENSP00000304994		CCDS41899.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67314175	67314175	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	20	9	.	.	ENST00000360461.5:c.228A>C	p.Ala76=	p.A76=	ENST00000360461	NM_001129727.1	76	gcA/gcC	0	1	1	UPI000013C774	0		ENST00000360461		ENSG00000196155	24501		29			HGNC	p.A76A		PLEKHG4		SNV			1				ENST00000563969	protein_coding					A		C		2763/6782				H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,synonymous_variant,p.=,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,synonymous_variant,p.=,ENST00000379344,NM_001129729.1;PLEKHG4,synonymous_variant,p.=,ENST00000450733,NM_001129731.1;PLEKHG4,synonymous_variant,p.=,ENST00000427155,NM_001129728.1;PLEKHG4,synonymous_variant,p.=,ENST00000562144,;PLEKHG4,synonymous_variant,p.=,ENST00000565773,;PLEKHG4,synonymous_variant,p.=,ENST00000567938,;PLEKHG4,intron_variant,,ENST00000562744,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;PLEKHG4,synonymous_variant,p.=,ENST00000563969,;PLEKHG4,synonymous_variant,p.=,ENST00000393966,;							LOW	228/3576		PKHG4_HUMAN			Transcript			.	ENSP00000353646		CCDS32466.1			1	
NRD1	0	LGGM	GRCh37	1	52255039	52255039	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	19	10	.	.	ENST00000354831.7:c.3529T>G	p.Ser1177Ala	p.S1177A	ENST00000354831	NM_002525.2	1177	Tct/Gct	0	1	1	UPI0000458A53	0	getma.org/pdb.php?prot=NRDC_HUMAN&from=1021&to=1150&var=S1108A	ENST00000354831		ENSG00000078618	7995		29	0.57		HGNC	p.S1109A		NRD1		SNV							ENST00000352171	protein_coding	getma.org/?cm=var&var=hg19,1,52255039,A,C&fts=all				S/A		C	neutral	3719/3895		getma.org/?cm=msa&ty=f&p=NRDC_HUMAN&rb=1021&re=1150&var=S1108A	tolerated(0.51)	G3V1R5_HUMAN,B1AKJ5_HUMAN			YES	NRD1,missense_variant,p.Ser1177Ala,ENST00000354831,NM_002525.2;NRD1,missense_variant,p.Ser1109Ala,ENST00000352171,NM_001101662.1;NRD1,missense_variant,p.Ser1045Ala,ENST00000539524,NM_001242361.1;NRD1,missense_variant,p.Ser496Ala,ENST00000440943,;OSBPL9,downstream_gene_variant,,ENST00000371710,NM_024586.5,NM_148906.2;OSBPL9,downstream_gene_variant,,ENST00000337809,NM_148908.3,NM_148909.3;OSBPL9,downstream_gene_variant,,ENST00000371714,;OSBPL9,downstream_gene_variant,,ENST00000447887,;OSBPL9,downstream_gene_variant,,ENST00000428468,;OSBPL9,downstream_gene_variant,,ENST00000453295,;OSBPL9,downstream_gene_variant,,ENST00000435686,;OSBPL9,downstream_gene_variant,,ENST00000462759,NM_148904.3;OSBPL9,downstream_gene_variant,,ENST00000361556,NM_148907.2;OSBPL9,downstream_gene_variant,,ENST00000486942,NM_148905.3;OSBPL9,downstream_gene_variant,,ENST00000530544,;OSBPL9,downstream_gene_variant,,ENST00000531828,;RP4-657D16.3,upstream_gene_variant,,ENST00000586761,;RP4-657D16.3,upstream_gene_variant,,ENST00000588291,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000464385,;OSBPL9,downstream_gene_variant,,ENST00000531819,;OSBPL9,downstream_gene_variant,,ENST00000475697,;OSBPL9,downstream_gene_variant,,ENST00000495776,;OSBPL9,downstream_gene_variant,,ENST00000435274,;							MODERATE	3529/3660	S1108A				Transcript		benign(0.004)	.	ENSP00000346890		CCDS559.1			1	
NPC1L1	0	LGGM	GRCh37	7	44578572	44578572	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	10	10	.	.	ENST00000289547.4:c.1424T>G	p.Leu475Arg	p.L475R	ENST00000289547	NM_013389.2	475	cTc/cGc	0	1	1	UPI000013DF88	0	NA	ENST00000289547		ENSG00000015520	7898		20	3.105		HGNC	p.L475R		NPC1L1		SNV			1				ENST00000289547	protein_coding	getma.org/?cm=var&var=hg19,7,44578572,A,C&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89		L/R		C	medium	1480/5048		getma.org/?cm=msa&ty=f&p=NPCL1_HUMAN&rb=401&re=600&var=L475R	deleterious(0)				YES	NPC1L1,missense_variant,p.Leu475Arg,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Leu475Arg,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Leu475Arg,ENST00000546276,;NPC1L1,missense_variant,p.Leu475Arg,ENST00000423141,;							MODERATE	1424/4080	L475R	NPCL1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000289547		CCDS5491.1			1	
TNFSF4	0	LGGM	GRCh37	1	173155932	173155932	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	27	10	.	.	ENST00000281834.3:c.275C>T	p.Ser92Leu	p.S92L	ENST00000281834	NM_003326.3	92	tCa/tTa	0	1	1	UPI00001370A5	0	getma.org/pdb.php?prot=TNFL4_HUMAN&from=77&to=182&var=S92L	ENST00000281834		ENSG00000117586	11934		37	1.78		HGNC	p.S92L		TNFSF4		SNV			1				ENST00000281834	protein_coding	getma.org/?cm=var&var=hg19,1,173155932,G,A&fts=all		Pfam_domain:PF00229,hmmpanther:PTHR17534,hmmpanther:PTHR17534:SF4,SMART_domains:SM00207,Superfamily_domains:SSF49842		S/L		A	low	412/3470		getma.org/?cm=msa&ty=f&p=TNFL4_HUMAN&rb=77&re=182&var=S92L	tolerated(0.11)				YES	TNFSF4,missense_variant,p.Ser92Leu,ENST00000281834,NM_003326.3;TNFSF4,missense_variant,p.Ser42Leu,ENST00000367718,;TNFSF4,downstream_gene_variant,,ENST00000488053,;							MODERATE	275/552	S92L	TNFL4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000281834		CCDS1306.1			1	
COPS7B	0	LGGM	GRCh37	2	232646549	232646549	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	12	11	.	.				ENST00000287600	NM_002601.2			0	1	1	UPI000007274E	0		ENST00000350033		ENSG00000144524	16760		23		4575	HGNC	p.E6X		COPS7B		SNV							ENST00000409295	protein_coding							T		-/2544				J3KQV6_HUMAN			YES	COPS7B,stop_gained,p.Glu6Ter,ENST00000409295,NM_001282949.1;COPS7B,5_prime_UTR_variant,,ENST00000410024,;COPS7B,5_prime_UTR_variant,,ENST00000409091,NM_001282952.1;PDE6D,5_prime_UTR_variant,,ENST00000428104,;COPS7B,upstream_gene_variant,,ENST00000373608,NM_001282950.1;COPS7B,upstream_gene_variant,,ENST00000350033,NM_022730.1;COPS7B,upstream_gene_variant,,ENST00000410017,;PDE6D,upstream_gene_variant,,ENST00000287600,NM_002601.2;PDE6D,upstream_gene_variant,,ENST00000409772,;COPS7B,upstream_gene_variant,,ENST00000412591,;PDE6D,upstream_gene_variant,,ENST00000477748,;COPS7B,5_prime_UTR_variant,,ENST00000449784,;COPS7B,5_prime_UTR_variant,,ENST00000452375,;COPS7B,non_coding_transcript_exon_variant,,ENST00000466901,;COPS7B,non_coding_transcript_exon_variant,,ENST00000479430,;COPS7B,upstream_gene_variant,,ENST00000413197,;COPS7B,upstream_gene_variant,,ENST00000412922,;PDE6D,upstream_gene_variant,,ENST00000486044,;COPS7B,upstream_gene_variant,,ENST00000492423,;COPS7B,upstream_gene_variant,,ENST00000432387,;COPS7B,upstream_gene_variant,,ENST00000357490,;COPS7B,upstream_gene_variant,,ENST00000450501,;							MODIFIER	-/795		CSN7B_HUMAN			Transcript			.	ENSP00000272995		CCDS2488.1			1	
DACT1	0	LGGM	GRCh37	14	59113563	59113563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	23	11	.	.	ENST00000335867.4:c.2222C>A	p.Thr741Asn	p.T741N	ENST00000335867		741	aCc/aAc	0	1	1	UPI000013E4D3	0	NA	ENST00000335867		ENSG00000165617	17748		34	2.425		HGNC	p.T460N		DACT1		SNV			1				ENST00000395151	protein_coding	getma.org/?cm=var&var=hg19,14,59113563,C,A&fts=all		Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12		T/N		A	medium	2246/2571		getma.org/?cm=msa&ty=f&p=DACT1_HUMAN&rb=1&re=834&var=T741N	deleterious(0)	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN			YES	DACT1,missense_variant,p.Thr704Asn,ENST00000395153,NM_016651.5,NM_001079520.1;DACT1,missense_variant,p.Thr460Asn,ENST00000541264,;DACT1,missense_variant,p.Thr741Asn,ENST00000335867,;DACT1,missense_variant,p.Thr460Asn,ENST00000556859,;DACT1,downstream_gene_variant,,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;							MODERATE	2222/2511	T741N	DACT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337439		CCDS9736.1			1	
RHEBL1	0	LGGM	GRCh37	12	49460810	49460810	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	24	11	.	.	ENST00000301068.6:c.133A>G	p.Lys45Glu	p.K45E	ENST00000301068	NM_144593.1	45	Aag/Gag	0	1	1	UPI00000412A8	0	getma.org/pdb.php?prot=REBL1_HUMAN&from=8&to=169&var=K45E	ENST00000301068		ENSG00000167550	21166		35	3.435		HGNC	p.K45E		RHEBL1		SNV							ENST00000301068	protein_coding	getma.org/?cm=var&var=hg19,12,49460810,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF217,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		K/E		C	medium	373/1210		getma.org/?cm=msa&ty=f&p=REBL1_HUMAN&rb=8&re=169&var=K45E	deleterious(0)				YES	RHEBL1,missense_variant,p.Lys45Glu,ENST00000301068,NM_144593.1;RHEBL1,missense_variant,p.Lys45Glu,ENST00000550675,;RHEBL1,synonymous_variant,p.=,ENST00000550797,;RHEBL1,intron_variant,,ENST00000420065,;							MODERATE	133/552	K45E	REBL1_HUMAN			Transcript		benign(0.272)	.	ENSP00000301068		CCDS8778.1			1	
NOC3L	0	LGGM	GRCh37	10	96117052	96117052	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	14	11	.	.	ENST00000371361.3:c.387C>T	p.Arg129=	p.R129=	ENST00000371361	NM_022451.9	129	cgC/cgT	0	1	1	UPI000006DE09	0		ENST00000371361		ENSG00000173145	24034		25			HGNC	p.R129R		NOC3L		SNV							ENST00000371361	protein_coding			PIRSF_domain:PIRSF028977,hmmpanther:PTHR14428:SF5,hmmpanther:PTHR14428		R		A		488/3455							YES	NOC3L,synonymous_variant,p.=,ENST00000371361,NM_022451.9;NOC3L,synonymous_variant,p.=,ENST00000371350,;NOC3L,upstream_gene_variant,,ENST00000543788,;NOC3L,non_coding_transcript_exon_variant,,ENST00000463649,;NOC3L,downstream_gene_variant,,ENST00000461562,;							LOW	387/2403		NOC3L_HUMAN			Transcript			.	ENSP00000360412		CCDS7433.1			1	
TIAM2	0	LGGM	GRCh37	6	155458337	155458337	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	21	11	.	.	ENST00000461783.3:c.1221C>G	p.Asp407Glu	p.D407E	ENST00000461783		407	gaC/gaG	0	1		UPI00004DF8BE	0	NA	ENST00000318981		ENSG00000146426	11806		32	0.245		HGNC	p.D407E		TIAM2		SNV							ENST00000528535	protein_coding	getma.org/?cm=var&var=hg19,6,155458337,C,G&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		D/E		G	neutral	1429/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1&re=503&var=D407E	tolerated(1)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Asp407Glu,ENST00000461783,;TIAM2,missense_variant,p.Asp407Glu,ENST00000456144,;TIAM2,missense_variant,p.Asp407Glu,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Asp407Glu,ENST00000360366,;TIAM2,missense_variant,p.Asp407Glu,ENST00000529824,;TIAM2,missense_variant,p.Asp407Glu,ENST00000528535,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;							MODERATE	1221/5106	D407E	TIAM2_HUMAN			Transcript		benign(0.002)	.	ENSP00000327315		CCDS34558.1			1	
TUBGCP3	0	LGGM	GRCh37	13	113176639	113176639	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	19	11	.	.	ENST00000261965.3:c.1740G>C	p.Leu580Phe	p.L580F	ENST00000261965	NM_006322.4	580	ttG/ttC	0	1	1	UPI000000DB88	0	getma.org/pdb.php?prot=GCP3_HUMAN&from=253&to=763&var=L580F	ENST00000261965		ENSG00000126216	18598		30	2.74		HGNC	p.L580F		TUBGCP3		SNV							ENST00000261965	protein_coding	getma.org/?cm=var&var=hg19,13,113176639,C,G&fts=all		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14		L/F		G	medium	1927/3893		getma.org/?cm=msa&ty=f&p=GCP3_HUMAN&rb=253&re=763&var=L580F	deleterious(0)				YES	TUBGCP3,missense_variant,p.Leu580Phe,ENST00000261965,NM_006322.4;TUBGCP3,missense_variant,p.Leu580Phe,ENST00000375669,NM_001286278.1;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000462580,;							MODERATE	1740/2724	L580F	GCP3_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000261965		CCDS9525.1			1	
GRK7	0	LGGM	GRCh37	3	141497658	141497658	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	21	11	.	.	ENST00000264952.2:c.532T>A	p.Trp178Arg	p.W178R	ENST00000264952	NM_139209.2	178	Tgg/Agg	0	1	1	UPI000004244D	0	getma.org/pdb.php?prot=GRK7_HUMAN&from=176&to=190&var=W178R	ENST00000264952		ENSG00000114124	17031		32	1.665		HGNC	p.W178R		GRK7		SNV							ENST00000264952	protein_coding	getma.org/?cm=var&var=hg19,3,141497658,T,A&fts=all		Prints_domain:PR00717,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF12,Superfamily_domains:SSF48097		W/R		A	low	669/3239		getma.org/?cm=msa&ty=f&p=GRK7_HUMAN&rb=146&re=220&var=W178R	deleterious(0)				YES	GRK7,missense_variant,p.Trp178Arg,ENST00000264952,NM_139209.2;							MODERATE	532/1662	W178R	GRK7_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264952		CCDS3120.1			1	
CTDSPL	0	LGGM	GRCh37	3	38009323	38009323	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	10	12	.	.	ENST00000273179.5:c.376A>T	p.Ser126Cys	p.S126C	ENST00000273179	NM_001008392.1	126	Agt/Tgt	0	1	1	UPI00001BE8E2	0	getma.org/pdb.php?prot=CTDSL_HUMAN&from=107&to=267&var=S126C	ENST00000273179		ENSG00000144677	16890		22	2.595		HGNC	p.S126C		CTDSPL		SNV							ENST00000273179	protein_coding	getma.org/?cm=var&var=hg19,3,38009323,A,T&fts=all		Gene3D:3.40.50.1000,Pfam_domain:PF03031,PROSITE_profiles:PS50969,hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF43,SMART_domains:SM00577,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR02251		S/C		T	medium	402/4459		getma.org/?cm=msa&ty=f&p=CTDSL_HUMAN&rb=107&re=267&var=S126C	deleterious(0.01)				YES	CTDSPL,missense_variant,p.Ser115Cys,ENST00000443503,NM_005808.2;CTDSPL,missense_variant,p.Ser126Cys,ENST00000273179,NM_001008392.1;CTDSPL,missense_variant,p.Ser15Cys,ENST00000447745,;CTDSPL,missense_variant,p.Ser35Cys,ENST00000416688,;MIR26A1,upstream_gene_variant,,ENST00000362205,;CTDSPL,non_coding_transcript_exon_variant,,ENST00000310189,;CTDSPL,non_coding_transcript_exon_variant,,ENST00000486978,;							MODERATE	376/831	S126C	CTDSL_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000273179		CCDS33734.1			1	
TMCC1	0	LGGM	GRCh37	3	129389364	129389364	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	24	12	.	.	ENST00000393238.3:c.1320C>T	p.Ile440=	p.I440=	ENST00000393238	NM_001017395.3	440	atC/atT	0	1	1	UPI0000197B80	0		ENST00000393238		ENSG00000172765	29116		36			HGNC	p.I261I	rs753739013	TMCC1		SNV				9.61E-05			ENST00000329333	protein_coding			Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11		I		A		1661/5992				Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN			YES	TMCC1,synonymous_variant,p.=,ENST00000393238,NM_001017395.3;TMCC1,synonymous_variant,p.=,ENST00000432054,;TMCC1,synonymous_variant,p.=,ENST00000426664,NM_001128224.2;TMCC1,synonymous_variant,p.=,ENST00000329333,;TMCC1,downstream_gene_variant,,ENST00000505616,;							LOW	1320/1962		TMCC1_HUMAN			Transcript			.	ENSP00000376930	8.24E-06	CCDS33855.1			1	
IFT20	0	LGGM	GRCh37	17	26659238	26659238	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	5	14	.	.	ENST00000585089.1:c.10C>T	p.Leu4Phe	p.L4F	ENST00000585089	NM_001267774.1	4	Ctc/Ttc	0	1		UPI00000742E2	0		ENST00000395418		ENSG00000109083	30989		19			HGNC	p.L4F		IFT20		SNV							ENST00000585089	protein_coding							A		-/825								IFT20,missense_variant,p.Leu4Phe,ENST00000585089,NM_001267774.1;IFT20,missense_variant,p.Leu4Phe,ENST00000578122,;IFT20,missense_variant,p.Leu4Phe,ENST00000578985,;IFT20,missense_variant,p.Leu4Phe,ENST00000577498,;IFT20,intron_variant,,ENST00000357896,NM_174887.3;IFT20,intron_variant,,ENST00000585313,NM_001267775.1;IFT20,intron_variant,,ENST00000395418,NM_001267776.1;IFT20,intron_variant,,ENST00000579419,NM_001267777.1;TNFAIP1,upstream_gene_variant,,ENST00000226225,NM_021137.4;TMEM97,downstream_gene_variant,,ENST00000226230,NM_014573.2;TMEM97,downstream_gene_variant,,ENST00000336687,;TNFAIP1,upstream_gene_variant,,ENST00000544907,;TMEM97,downstream_gene_variant,,ENST00000582384,;IFT20,upstream_gene_variant,,ENST00000578009,NM_001267778.1;TNFAIP1,upstream_gene_variant,,ENST00000582302,;TNFAIP1,upstream_gene_variant,,ENST00000578158,;TNFAIP1,upstream_gene_variant,,ENST00000583213,;IFT20,non_coding_transcript_exon_variant,,ENST00000578547,;IFT20,non_coding_transcript_exon_variant,,ENST00000322326,;IFT20,intron_variant,,ENST00000582797,;IFT20,intron_variant,,ENST00000580357,;IFT20,intron_variant,,ENST00000580991,;IFT20,upstream_gene_variant,,ENST00000583796,;							MODIFIER	-/399		IFT20_HUMAN			Transcript			.	ENSP00000378809		CCDS58534.1			1	
VCAM1	0	LGGM	GRCh37	1	101198050	101198050	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	32	14	.	.	ENST00000294728.2:c.1602C>T	p.Cys534=	p.C534=	ENST00000294728	NM_001078.3	534	tgC/tgT	0	1	1	UPI0000000E06	0		ENST00000294728		ENSG00000162692	12663		46			HGNC	p.C442C	COSM316450	VCAM1		SNV						1	ENST00000347652	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		C		T		1703/3083				Q68DC4_HUMAN,G0ZI12_HUMAN,G0ZFQ0_HUMAN,F8UV74_HUMAN,F8UU18_HUMAN,F2YYR6_HUMAN			YES	VCAM1,synonymous_variant,p.=,ENST00000294728,NM_001078.3;VCAM1,synonymous_variant,p.=,ENST00000347652,NM_080682.2;VCAM1,synonymous_variant,p.=,ENST00000370119,NM_001199834.1;VCAM1,synonymous_variant,p.=,ENST00000370115,;VCAM1,upstream_gene_variant,,ENST00000603679,;					1		LOW	1602/2220		VCAM1_HUMAN			Transcript			.	ENSP00000294728		CCDS773.1			1	
KIAA0368	0	LGGM	GRCh37	9	114124436	114124436	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	66	14	.	.	ENST00000259335.4:c.5928G>A	p.Trp1976Ter	p.W1976*	ENST00000259335	NM_001080398.1	1976	tgG/tgA	0	1		UPI0002B83222	0	NA	ENST00000338205		ENSG00000136813	29020		80	0		HGNC	p.W1976X		KIAA0368		SNV							ENST00000259335	protein_coding	getma.org/?cm=var&var=hg19,9,114124436,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Superfamily_domains:SSF48371		W/*		T	NA	5614/7078		NA						KIAA0368,stop_gained,p.Trp1976Ter,ENST00000259335,NM_001080398.1;KIAA0368,stop_gained,p.Trp1798Ter,ENST00000338205,;KIAA0368,intron_variant,,ENST00000374378,;KIAA0368,intron_variant,,ENST00000374383,;KIAA0368,downstream_gene_variant,,ENST00000465499,;							HIGH	5394/5520	W1804*	ECM29_HUMAN			Transcript			.	ENSP00000339889					1	
NRD1	0	LGGM	GRCh37	1	52254981	52254981	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	22	14	.	.	ENST00000354831.7:c.3587T>G	p.Ile1196Ser	p.I1196S	ENST00000354831	NM_002525.2	1196	aTc/aGc	0	1	1	UPI0000458A53	0	getma.org/pdb.php?prot=NRDC_HUMAN&from=1021&to=1150&var=I1127S	ENST00000354831		ENSG00000078618	7995		36	-0.345		HGNC	p.I1128S		NRD1		SNV							ENST00000352171	protein_coding	getma.org/?cm=var&var=hg19,1,52254981,A,C&fts=all				I/S		C	neutral	3777/3895		getma.org/?cm=msa&ty=f&p=NRDC_HUMAN&rb=1021&re=1150&var=I1127S	tolerated(0.19)	G3V1R5_HUMAN,B1AKJ5_HUMAN			YES	NRD1,missense_variant,p.Ile1196Ser,ENST00000354831,NM_002525.2;NRD1,missense_variant,p.Ile1128Ser,ENST00000352171,NM_001101662.1;NRD1,missense_variant,p.Ile1064Ser,ENST00000539524,NM_001242361.1;NRD1,missense_variant,p.Ile515Ser,ENST00000440943,;OSBPL9,downstream_gene_variant,,ENST00000371710,NM_024586.5,NM_148906.2;OSBPL9,downstream_gene_variant,,ENST00000337809,NM_148908.3,NM_148909.3;OSBPL9,downstream_gene_variant,,ENST00000371714,;OSBPL9,downstream_gene_variant,,ENST00000447887,;OSBPL9,downstream_gene_variant,,ENST00000428468,;OSBPL9,downstream_gene_variant,,ENST00000453295,;OSBPL9,downstream_gene_variant,,ENST00000435686,;OSBPL9,downstream_gene_variant,,ENST00000462759,NM_148904.3;OSBPL9,downstream_gene_variant,,ENST00000361556,NM_148907.2;OSBPL9,downstream_gene_variant,,ENST00000486942,NM_148905.3;OSBPL9,downstream_gene_variant,,ENST00000530544,;OSBPL9,downstream_gene_variant,,ENST00000531828,;RP4-657D16.3,upstream_gene_variant,,ENST00000586761,;RP4-657D16.3,upstream_gene_variant,,ENST00000588291,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000464385,;OSBPL9,downstream_gene_variant,,ENST00000531819,;OSBPL9,downstream_gene_variant,,ENST00000475697,;OSBPL9,downstream_gene_variant,,ENST00000495776,;OSBPL9,downstream_gene_variant,,ENST00000435274,;							MODERATE	3587/3660	I1127S				Transcript		benign(0.003)	.	ENSP00000346890		CCDS559.1			1	
OR4C12	0	LGGM	GRCh37	11	50004030	50004030	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	27	14	.	.	ENST00000335238.4:c.8A>G	p.Lys3Arg	p.K3R	ENST00000335238	NM_001005270.2	3	aAg/aGg	0	1	1	UPI0000041E30	0	NA	ENST00000335238		ENSG00000221954	15168		41	0.205		HGNC	p.K3R		OR4C12		SNV							ENST00000335238	protein_coding	getma.org/?cm=var&var=hg19,11,50004030,T,C&fts=all		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF9,Gene3D:1.20.1070.10		K/R		C	neutral	42/1063		getma.org/?cm=msa&ty=f&p=OR4CC_HUMAN&rb=1&re=136&var=K3R	tolerated(0.29)				YES	OR4C12,missense_variant,p.Lys3Arg,ENST00000335238,NM_001005270.2;							MODERATE	8/930	K3R	OR4CC_HUMAN			Transcript		benign(0.021)	.	ENSP00000334418		CCDS31496.1			1	
GSTK1	0	LGGM	GRCh37	7	142961725	142961725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	113	14	.	.	ENST00000479303.1:c.239C>A	p.Pro80His	p.P80H	ENST00000479303	NM_001143679.1	80	cCc/cAc	0	1		UPI000013C81A	0	getma.org/pdb.php?prot=GSTK1_HUMAN&from=7&to=211&var=P80H	ENST00000358406		ENSG00000197448	16906		127	2.11		HGNC	p.P80H		GSTK1		SNV							ENST00000479303	protein_coding	getma.org/?cm=var&var=hg19,7,142961725,C,A&fts=all		Superfamily_domains:SSF52833,PIRSF_domain:PIRSF006386,Pfam_domain:PF01323,Gene3D:3.40.30.10,hmmpanther:PTHR13887		P/H		A	medium	310/1044		getma.org/?cm=msa&ty=f&p=GSTK1_HUMAN&rb=7&re=211&var=P80H	deleterious(0)	Q6FII1_HUMAN				GSTK1,missense_variant,p.Pro80His,ENST00000479303,NM_001143679.1;GSTK1,missense_variant,p.Pro80His,ENST00000358406,NM_015917.2;GSTK1,missense_variant,p.Pro80His,ENST00000409500,NM_001143680.1;GSTK1,missense_variant,p.Pro70His,ENST00000436038,;GSTK1,intron_variant,,ENST00000443571,NM_001143681.1;AC073342.12,intron_variant,,ENST00000427392,;GSTK1,non_coding_transcript_exon_variant,,ENST00000494735,;GSTK1,missense_variant,p.Pro80His,ENST00000442394,;GSTK1,non_coding_transcript_exon_variant,,ENST00000473649,;GSTK1,non_coding_transcript_exon_variant,,ENST00000489654,;							MODERATE	239/681	P80H	GSTK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351181		CCDS5877.1			1	
SRP54	0	LGGM	GRCh37	14	35483047	35483047	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	30	15	.	.	ENST00000556994.1:c.825A>C	p.Thr275=	p.T275=	ENST00000556994		275	acA/acC	0	1		UPI0000135EE0	0		ENST00000216774		ENSG00000100883	11301		45			HGNC	p.T211T		SRP54		SNV							ENST00000555557	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00382,SMART_domains:SM00962,TIGRFAM_domain:TIGR01425,Gene3D:3.40.50.300,Pfam_domain:PF00448,PROSITE_patterns:PS00300,hmmpanther:PTHR11564:SF5,hmmpanther:PTHR11564,HAMAP:MF_00306		T		C		1176/2279				G3V4F7_HUMAN,G3V480_HUMAN,G3V346_HUMAN				SRP54,synonymous_variant,p.=,ENST00000556994,;SRP54,synonymous_variant,p.=,ENST00000216774,NM_003136.3;SRP54,synonymous_variant,p.=,ENST00000546080,NM_001146282.1;SRP54,synonymous_variant,p.=,ENST00000555557,;SRP54,downstream_gene_variant,,ENST00000556380,;SRP54,upstream_gene_variant,,ENST00000553923,;SRP54,upstream_gene_variant,,ENST00000556445,;							LOW	825/1515		SRP54_HUMAN			Transcript			.	ENSP00000216774		CCDS9652.1			1	
PGS1	0	LGGM	GRCh37	17	76399976	76399976	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	19	15	.	.	ENST00000262764.6:c.1208G>A	p.Arg403Gln	p.R403Q	ENST00000262764	NM_024419.3	403	cGg/cAg	0	1	1	UPI00000435E5	0	NA	ENST00000262764		ENSG00000087157	30029	8.64E-05	34	1.03		HGNC	p.R268Q	rs760317902	PGS1		SNV							ENST00000329897	protein_coding	getma.org/?cm=var&var=hg19,17,76399976,G,A&fts=all		hmmpanther:PTHR12586:SF1,hmmpanther:PTHR12586,Gene3D:3.30.870.10,PIRSF_domain:PIRSF000850,Superfamily_domains:SSF56024		R/Q		A	low	1234/2201		getma.org/?cm=msa&ty=f&p=PGPS1_HUMAN&rb=270&re=469&var=R403Q	tolerated(0.69)				YES	PGS1,missense_variant,p.Arg403Gln,ENST00000262764,NM_024419.3;PGS1,missense_variant,p.Arg268Gln,ENST00000329897,;PGS1,missense_variant,p.Arg377Gln,ENST00000589689,;PGS1,missense_variant,p.Arg21Gln,ENST00000586019,;PGS1,downstream_gene_variant,,ENST00000592043,;PGS1,downstream_gene_variant,,ENST00000587356,;PGS1,upstream_gene_variant,,ENST00000586355,;SNORA30,downstream_gene_variant,,ENST00000363193,;PGS1,non_coding_transcript_exon_variant,,ENST00000588281,;PGS1,intron_variant,,ENST00000585521,;PGS1,missense_variant,p.Arg377Gln,ENST00000589426,;PGS1,3_prime_UTR_variant,,ENST00000589425,;PGS1,3_prime_UTR_variant,,ENST00000588169,;PGS1,non_coding_transcript_exon_variant,,ENST00000591996,;							MODERATE	1208/1671	R403Q	PGPS1_HUMAN			Transcript		benign(0.014)	.	ENSP00000262764	8.27E-06	CCDS42391.1			1	
LMOD2	0	LGGM	GRCh37	7	123303021	123303021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	15	15	.	.	ENST00000458573.2:c.1381G>A	p.Glu461Lys	p.E461K	ENST00000458573	NM_207163.1	461	Gaa/Aaa	0	1	1	UPI0001572CCA	0	NA	ENST00000458573		ENSG00000170807	6648		30	1.78		HGNC	p.E461K		LMOD2		SNV							ENST00000458573	protein_coding	getma.org/?cm=var&var=hg19,7,123303021,G,A&fts=all		hmmpanther:PTHR10901:SF12,hmmpanther:PTHR10901		E/K		A	low	1538/2346		getma.org/?cm=msa&ty=f&p=LMOD2_HUMAN&rb=341&re=540&var=E461K	deleterious(0)	B4DUL7_HUMAN			YES	LMOD2,missense_variant,p.Glu461Lys,ENST00000458573,NM_207163.1;LMOD2,intron_variant,,ENST00000456238,;							MODERATE	1381/1644	E461K	LMOD2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000411932		CCDS47693.1			1	
NBPF14	0	LGGM	GRCh37	1	148008591	148008591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	153	15	.	.	ENST00000310701.10:c.2014A>G	p.Gln672Arg	p.Q672R	ENST00000310701		672	cAa/cGa	0	1	1	UPI000059D042	0	NA	ENST00000310701		ENSG00000122497	25232		168	2.515		HGNC	p.Q666R		NBPF14		SNV							ENST00000369219	protein_coding	getma.org/?cm=var&var=hg19,1,148008591,T,C&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		Q/R		C	medium	2014/3689		getma.org/?cm=msa&ty=f&p=NBPFE_HUMAN&rb=663&re=729&var=Q666R	deleterious(0.01)	S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN			YES	NBPF14,missense_variant,p.Gln672Arg,ENST00000310701,;NBPF14,missense_variant,p.Gln666Arg,ENST00000369219,;NBPF14,missense_variant,p.Gln358Arg,ENST00000431121,;NBPF14,intron_variant,,ENST00000436356,;NBPF14,intron_variant,,ENST00000444640,;NBPF14,intron_variant,,ENST00000392972,;NBPF14,intron_variant,,ENST00000448574,;NBPF14,intron_variant,,ENST00000458135,;NBPF14,downstream_gene_variant,,ENST00000426874,;							MODERATE	2015/2784	Q666R				Transcript		probably_damaging(0.996)	.	ENSP00000309907					1	
PCDH11X	0	LGGM	GRCh37	X	91133051	91133051	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	0	15	.	.	ENST00000373094.1:c.1812A>T	p.Ala604=	p.A604=	ENST00000373094	NM_032968.3	604	gcA/gcT	0	1	1	UPI0000070BD8	0		ENST00000373094		ENSG00000102290	8656		15			HGNC	p.A604A		PCDH11X		SNV							ENST00000373088	protein_coding			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268		A		T		2657/9176				Q70LT5_HUMAN,Q70LT4_HUMAN			YES	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,;							LOW	1812/4044		PC11X_HUMAN			Transcript			.	ENSP00000362186		CCDS14461.1			1	
SECISBP2	0	LGGM	GRCh37	9	91961822	91961822	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	10	16	.	.	ENST00000375807.3:c.1461A>C	p.Lys487Asn	p.K487N	ENST00000375807	NM_024077.3	487	aaA/aaC	0	1	1	UPI00001AEA0A	0	NA	ENST00000375807		ENSG00000187742	30972		26	2.19		HGNC	p.K419N		SECISBP2		SNV			1				ENST00000534113	protein_coding	getma.org/?cm=var&var=hg19,9,91961822,A,C&fts=all		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF9,Low_complexity_(Seg):seg		K/N		C	medium	1532/3454		getma.org/?cm=msa&ty=f&p=SEBP2_HUMAN&rb=401&re=600&var=K487N	deleterious(0)	Q9H948_HUMAN,Q7L1Z0_HUMAN,Q6AW84_HUMAN,F8W892_HUMAN			YES	SECISBP2,missense_variant,p.Lys487Asn,ENST00000375807,NM_024077.3,NM_001282688.1;SECISBP2,missense_variant,p.Lys414Asn,ENST00000339901,NM_001282689.1;SECISBP2,missense_variant,p.Lys419Asn,ENST00000534113,NM_001282690.1;SECISBP2,upstream_gene_variant,,ENST00000498819,;							MODERATE	1461/2565	K487N	SEBP2_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000364965		CCDS6683.1			1	
FAAH2	0	LGGM	GRCh37	X	57358222	57358222	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	4	16	.	.	ENST00000374900.4:c.604A>G	p.Ile202Val	p.I202V	ENST00000374900	NM_174912.3	202	Att/Gtt	0	1	1	UPI000004CC6F	0	getma.org/pdb.php?prot=FAAH2_HUMAN&from=69&to=513&var=I202V	ENST00000374900		ENSG00000165591	26440		20	1.365		HGNC	p.I202V		FAAH2		SNV							ENST00000374900	protein_coding	getma.org/?cm=var&var=hg19,X,57358222,A,G&fts=all		Gene3D:3.90.1300.10,Pfam_domain:PF01425,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF66,Superfamily_domains:SSF75304		I/V		G	low	724/1983		getma.org/?cm=msa&ty=f&p=FAAH2_HUMAN&rb=69&re=513&var=I202V	deleterious(0.04)	B2C6G4_HUMAN			YES	FAAH2,missense_variant,p.Ile202Val,ENST00000374900,NM_174912.3;							MODERATE	604/1599	I202V	FAAH2_HUMAN			Transcript		benign(0.257)	.	ENSP00000364035		CCDS14375.1			1	
PPP4R1L	0	LGGM	GRCh37	20	56826817	56826817	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	20	16	.	.	ENST00000493688.1:c.110G>A	p.Arg37Gln	p.R37Q	ENST00000493688		37	cGg/cAg	0	1	1	UPI0000072504	0		ENST00000493688		ENSG00000124224	15755		36			HGNC	p.R37Q	rs768682414	PPP4R1L		SNV							ENST00000493688	nonsense_mediated_decay			PROSITE_profiles:PS50077,hmmpanther:PTHR10648:SF7,hmmpanther:PTHR10648,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		R/Q		T		410/2325			deleterious(0.04)	Q96LY6_HUMAN			YES	PPP4R1L,missense_variant,p.Arg180Gln,ENST00000334187,;PPP4R1L,missense_variant,p.Arg151Gln,ENST00000244070,;PPP4R1L,missense_variant,p.Arg3Gln,ENST00000422302,;PPP4R1L,non_coding_transcript_exon_variant,,ENST00000462333,;PPP4R1L,intron_variant,,ENST00000475130,;PPP4R1L,missense_variant,p.Arg37Gln,ENST00000493688,;PPP4R1L,non_coding_transcript_exon_variant,,ENST00000495058,;							MODERATE	110/819					Transcript		probably_damaging(0.996)	.	ENSP00000435897					1	
ZDHHC7	0	LGGM	GRCh37	16	85010027	85010027	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	32	17	.	.	ENST00000564466.1:c.960G>A	p.Trp320Ter	p.W320*	ENST00000564466	NM_001145548.1	320	tgG/tgA	0	1		UPI00000437C6	0	NA	ENST00000313732		ENSG00000153786	18459		49	0		HGNC	p.W320X		ZDHHC7		SNV							ENST00000344861	protein_coding	getma.org/?cm=var&var=hg19,16,85010027,C,T&fts=all		hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF49		W/*		T	NA	1202/3442		NA		H3BNQ9_HUMAN,H3BMI0_HUMAN				ZDHHC7,stop_gained,p.Trp283Ter,ENST00000313732,NM_017740.2;ZDHHC7,stop_gained,p.Trp320Ter,ENST00000564466,NM_001145548.1;ZDHHC7,downstream_gene_variant,,ENST00000566909,;ZDHHC7,downstream_gene_variant,,ENST00000569488,;ZDHHC7,stop_gained,p.Trp320Ter,ENST00000344861,;ZDHHC7,non_coding_transcript_exon_variant,,ENST00000569377,;ZDHHC7,non_coding_transcript_exon_variant,,ENST00000564526,;							HIGH	849/927	W283*	ZDHC7_HUMAN			Transcript			.	ENSP00000315604		CCDS10950.1			1	
CTSE	0	LGGM	GRCh37	1	206329020	206329020	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	21	18	.	.	ENST00000358184.2:c.986G>A	p.Gly329Glu	p.G329E	ENST00000358184	NM_001910.3	329	gGa/gAa	0	1	1	UPI000000D9E4	0	getma.org/pdb.php?prot=CATE_HUMAN&from=77&to=399&var=G334E	ENST00000358184		ENSG00000196188	2530		39	2.425		HGNC	p.G334E		CTSE		SNV							ENST00000361052	protein_coding	getma.org/?cm=var&var=hg19,1,206329020,G,A&fts=all		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF81,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630		G/E		A	medium	1104/2228		getma.org/?cm=msa&ty=f&p=CATE_HUMAN&rb=77&re=399&var=G334E	tolerated(0.06)				YES	CTSE,missense_variant,p.Gly334Glu,ENST00000361052,;CTSE,missense_variant,p.Gly329Glu,ENST00000358184,NM_001910.3;CTSE,missense_variant,p.Glu282Lys,ENST00000360218,NM_148964.2;CTSE,missense_variant,p.Glu207Lys,ENST00000432969,;CTSE,non_coding_transcript_exon_variant,,ENST00000486757,;CTSE,downstream_gene_variant,,ENST00000468617,;							MODERATE	986/1191	G334E	CATE_HUMAN			Transcript		benign(0.422)	.	ENSP00000350911		CCDS1462.1			1	
MYO9A	0	LGGM	GRCh37	15	72208710	72208710	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	29	19	.	.	ENST00000356056.5:c.2685+1G>A		p.X895_splice	ENST00000356056	NM_006901.3			0	1	1	UPI000013D213	0		ENST00000356056		ENSG00000066933	7608		48			HGNC	-		MYO9A		SNV							ENST00000356056	protein_coding							T		-/12409				H3BSU8_HUMAN,H3BMS3_HUMAN			YES	MYO9A,splice_donor_variant,,ENST00000356056,NM_006901.3;MYO9A,splice_donor_variant,,ENST00000424560,;MYO9A,splice_donor_variant,,ENST00000444904,;MYO9A,splice_donor_variant,,ENST00000564571,;MYO9A,splice_donor_variant,,ENST00000566885,;MYO9A,splice_donor_variant,,ENST00000563542,;MYO9A,intron_variant,,ENST00000566744,;							HIGH	2685/7647		MYO9A_HUMAN			Transcript			.	ENSP00000348349		CCDS10239.1			1	
DNAH8	0	LGGM	GRCh37	6	38980388	38980390	+	inframe_deletion	In_Frame_Del	DEL	GAT	GAT	-	novel	by Submitter	H060272	H060272N.bam	GAT	GAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	57	19	.	.	ENST00000359357.3:c.13040_13042del	p.Met4347del	p.M4347del	ENST00000359357		4346	tgGATg/tgg	0	1	1	UPI00003677EB	0		ENST00000359357		ENSG00000124721	2952		76			HGNC	p.4310_4311del		DNAH8		deletion							ENST00000441566	protein_coding			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		WM/W		-		13292-13294/13860							YES	DNAH8,inframe_deletion,p.Met4552del,ENST00000327475,NM_001206927.1;DNAH8,inframe_deletion,p.Met4347del,ENST00000359357,;DNAH8,inframe_deletion,p.Met4311del,ENST00000441566,;							MODERATE	13038-13040/13473		DYH8_HUMAN			Transcript	2		.	ENSP00000352312					1	
CHD9	0	LGGM	GRCh37	16	53352202	53352202	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	35	20	.	.	ENST00000566029.1:c.7615C>G	p.Leu2539Val	p.L2539V	ENST00000566029		2539	Ctc/Gtc	0	1		UPI0000E02AC8	0	getma.org/pdb.php?prot=CHD9_HUMAN&from=2554&to=2599&var=L2555V	ENST00000398510		ENSG00000177200	25701		55	1.76		HGNC	p.L2539V		CHD9		SNV							ENST00000564845	protein_coding	getma.org/?cm=var&var=hg19,16,53352202,C,G&fts=all		Pfam_domain:PF07533,Superfamily_domains:SSF160481		L/V		G	low	7750/11337		getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=2554&re=2599&var=L2555V		H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,missense_variant,p.Leu2539Val,ENST00000566029,;CHD9,missense_variant,p.Leu2539Val,ENST00000564845,;CHD9,missense_variant,p.Leu2540Val,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Leu2555Val,ENST00000398510,;CHD9,missense_variant,p.Leu87Val,ENST00000564641,;CHD9,missense_variant,p.Leu105Val,ENST00000564600,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;							MODERATE	7663/8694	L2555V	CHD9_HUMAN			Transcript		unknown(0)	.	ENSP00000381522					1	
CAMSAP2	0	LGGM	GRCh37	1	200817737	200817737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	34	20	.	.	ENST00000358823.2:c.1840G>T	p.Val614Phe	p.V614F	ENST00000358823	NM_203459.1	614	Gtt/Ttt	0	1		UPI0000160246	0	NA	ENST00000236925		ENSG00000118200	29188		54	1.12		HGNC	p.V625F		CAMSAP2		SNV							ENST00000236925	protein_coding	getma.org/?cm=var&var=hg19,1,200817737,G,T&fts=all		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1		V/F		T	low	1922/7161		getma.org/?cm=msa&ty=f&p=CAMP2_HUMAN&rb=536&re=735&var=V625F	tolerated(0.06)	B3KX64_HUMAN				CAMSAP2,missense_variant,p.Val614Phe,ENST00000358823,NM_203459.1;CAMSAP2,missense_variant,p.Val625Phe,ENST00000236925,;CAMSAP2,missense_variant,p.Val598Phe,ENST00000413307,;CAMSAP2,intron_variant,,ENST00000447701,;							MODERATE	1873/4470	V625F	CAMP2_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000236925					1	
F11	0	LGGM	GRCh37	4	187192866	187192866	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	25	20	.	.	ENST00000403665.2:c.159C>T	p.His53=	p.H53=	ENST00000403665	NM_000128.3	53	caC/caT	0	1	1	UPI000000D8B7	0		ENST00000403665		ENSG00000088926	3529		45			HGNC	p.H53H		F11		SNV			1				ENST00000492972	protein_coding			SMART_domains:SM00223,Gene3D:3.50.4.10,Pfam_domain:PF00024,PROSITE_patterns:PS00495,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF81,PROSITE_profiles:PS50948		H		T		511/2396				Q9UEG0_HUMAN,D6RB32_HUMAN			YES	F11,synonymous_variant,p.=,ENST00000264692,;F11,synonymous_variant,p.=,ENST00000403665,NM_000128.3;F11,synonymous_variant,p.=,ENST00000492972,;F11,upstream_gene_variant,,ENST00000452239,;F11,upstream_gene_variant,,ENST00000514715,;							LOW	159/1878		FA11_HUMAN			Transcript			.	ENSP00000384957		CCDS3847.1			1	
KIAA1244	0	LGGM	GRCh37	6	138576688	138576688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	53	21	.	.	ENST00000251691.4:c.886C>A	p.Pro296Thr	p.P296T	ENST00000251691	NM_020340.4	296	Ccg/Acg	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		74	0		HGNC	p.P296T		KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138576688,C,A&fts=all		hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		P/T		A	neutral	1052/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=191&re=480&var=P296T	tolerated(0.58)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Pro296Thr,ENST00000251691,NM_020340.4;							MODERATE	886/6534	P296T	BIG3_HUMAN			Transcript		benign(0.001)	.	ENSP00000251691		CCDS5189.2			1	
RORB	0	LGGM	GRCh37	9	77300452	77300452	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	53	21	.	.	ENST00000376896.3:c.1298C>T	p.Ser433Phe	p.S433F	ENST00000376896	NM_006914.3	433	tCt/tTt	0	1		UPI000022D774	0	getma.org/pdb.php?prot=RORB_HUMAN&from=252&to=444&var=S444F	ENST00000396204		ENSG00000198963	10259		74	1.15		HGNC	p.S444F		RORB		SNV							ENST00000396204	protein_coding	getma.org/?cm=var&var=hg19,9,77300452,C,T&fts=all		hmmpanther:PTHR24082:SF206,hmmpanther:PTHR24082,Gene3D:1.10.565.10,Superfamily_domains:SSF48508		S/F		T	low	1331/2996		getma.org/?cm=msa&ty=f&p=RORB_HUMAN&rb=252&re=444&var=S444F	tolerated(0.09)					RORB,missense_variant,p.Ser433Phe,ENST00000376896,NM_006914.3;RORB,missense_variant,p.Ser444Phe,ENST00000396204,;							MODERATE	1331/1413	S444F	RORB_HUMAN			Transcript		benign(0.1)	.	ENSP00000379507					1	
COL12A1	0	LGGM	GRCh37	6	75899523	75899523	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	34	22	.	.	ENST00000322507.8:c.403G>C	p.Val135Leu	p.V135L	ENST00000322507	NM_004370.5	135	Gtc/Ctc	0	1	1	UPI000045890B	0	NA	ENST00000322507		ENSG00000111799	2188		56	0		HGNC	p.V135L		COL12A1		SNV			1				ENST00000483888	protein_coding	getma.org/?cm=var&var=hg19,6,75899523,C,G&fts=all		hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Superfamily_domains:SSF53300		V/L		G	neutral	713/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=106&re=139&var=V135L					YES	COL12A1,missense_variant,p.Val135Leu,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Val135Leu,ENST00000483888,;COL12A1,missense_variant,p.Val135Leu,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000486533,;							MODERATE	403/9192	V135L	COCA1_HUMAN			Transcript		benign(0.004)	.	ENSP00000325146		CCDS43482.1			1	
BIRC6	0	LGGM	GRCh37	2	32756512	32756512	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	41	24	.	.	ENST00000421745.2:c.12185T>C	p.Leu4062Pro	p.L4062P	ENST00000421745	NM_016252.3	4062	cTt/cCt	0	1	1	UPI0001611442	0	NA	ENST00000421745		ENSG00000115760	13516		65	1.445		HGNC	p.L4062P		BIRC6		SNV							ENST00000421745	protein_coding	getma.org/?cm=var&var=hg19,2,32756512,T,C&fts=all		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93		L/P		C	low	12319/15703		getma.org/?cm=msa&ty=f&p=BIRC6_HUMAN&rb=4019&re=4218&var=L4062P					YES	BIRC6,missense_variant,p.Leu4062Pro,ENST00000421745,NM_016252.3;MIR558,upstream_gene_variant,,ENST00000384920,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;							MODERATE	12185/14574	L4062P	BIRC6_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000393596		CCDS33175.2			1	
DCLK2	0	LGGM	GRCh37	4	151153499	151153499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	39	26	.	.	ENST00000302176.8:c.1361T>C	p.Ile454Thr	p.I454T	ENST00000302176	NM_001040261.4	454	aTt/aCt	0	1		UPI0000D615C8	0	getma.org/pdb.php?prot=DCLK2_HUMAN&from=394&to=651&var=I437T	ENST00000296550		ENSG00000170390	19002		65	1.025		HGNC	p.I436T		DCLK2		SNV							ENST00000506325	protein_coding	getma.org/?cm=var&var=hg19,4,151153499,T,C&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347,PROSITE_profiles:PS50011		I/T		C	low	2064/4265		getma.org/?cm=msa&ty=f&p=DCLK2_HUMAN&rb=394&re=651&var=I437T	deleterious(0)					DCLK2,missense_variant,p.Ile437Thr,ENST00000296550,NM_001040260.3;DCLK2,missense_variant,p.Ile454Thr,ENST00000302176,NM_001040261.4;DCLK2,missense_variant,p.Ile436Thr,ENST00000506325,;DCLK2,missense_variant,p.Ile436Thr,ENST00000411937,;							MODERATE	1310/2301	I437T	DCLK2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000296550		CCDS34076.1			1	
POU2F2	0	LGGM	GRCh37	19	42621402	42621402	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	58	27	.	.	ENST00000526816.2:c.303G>T	p.Gly101=	p.G101=	ENST00000526816		101	ggG/ggT	0	1	1	UPI0000186851	0		ENST00000526816		ENSG00000028277	9213		85			HGNC	p.G101G		POU2F2		SNV							ENST00000533720	protein_coding			Prints_domain:PR00029,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF46		G		A		319/1928				Q9UMJ4_HUMAN,Q9UMI6_HUMAN			YES	POU2F2,splice_region_variant,p.=,ENST00000389341,NM_002698.4,NM_001247994.1,NM_001207025.2;POU2F2,splice_region_variant,p.=,ENST00000342301,;POU2F2,splice_region_variant,p.=,ENST00000560804,;POU2F2,splice_region_variant,p.=,ENST00000533720,;POU2F2,splice_region_variant,p.=,ENST00000526816,;POU2F2,splice_region_variant,p.=,ENST00000560398,;POU2F2,splice_region_variant,p.=,ENST00000529067,;POU2F2,splice_region_variant,p.=,ENST00000529952,NM_001207026.1;POU2F2,splice_region_variant,p.=,ENST00000528894,;POU2F2,intron_variant,,ENST00000560558,;POU2F2,upstream_gene_variant,,ENST00000526831,;POU2F2,downstream_gene_variant,,ENST00000558596,;POU2F2,splice_region_variant,,ENST00000524801,;POU2F2,splice_region_variant,,ENST00000531773,;POU2F2,downstream_gene_variant,,ENST00000532176,;POU2F2,splice_region_variant,p.=,ENST00000534559,;POU2F2,splice_region_variant,,ENST00000530982,;							LOW	303/1440		PO2F2_HUMAN			Transcript			.	ENSP00000431603		CCDS56095.1			1	
ITGA2	0	LGGM	GRCh37	5	52356813	52356813	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	39	27	.	.	ENST00000296585.5:c.1395A>G	p.Ile465Met	p.I465M	ENST00000296585	NM_002203.3	465	atA/atG	0	1	1	UPI0000169C36	0	getma.org/pdb.php?prot=ITA2_HUMAN&from=364&to=553&var=I465M	ENST00000296585		ENSG00000164171	6137		66	0.895		HGNC	p.I465M		ITGA2		SNV			1				ENST00000509814	protein_coding	getma.org/?cm=var&var=hg19,5,52356813,A,G&fts=all		Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,PROSITE_profiles:PS51470		I/M		G	low	1538/7869		getma.org/?cm=msa&ty=f&p=ITA2_HUMAN&rb=364&re=553&var=I465M	deleterious(0)	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN			YES	ITGA2,missense_variant,p.Ile465Met,ENST00000296585,NM_002203.3;ITGA2,missense_variant,p.Ile465Met,ENST00000509960,;ITGA2,missense_variant,p.Ile465Met,ENST00000510722,;ITGA2,missense_variant,p.Ile465Met,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;							MODERATE	1395/3546	I465M	ITA2_HUMAN			Transcript		possibly_damaging(0.865)	.	ENSP00000296585		CCDS3957.1			1	
WIF1	0	LGGM	GRCh37	12	65448993	65448993	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	17	27	.	.	ENST00000286574.4:c.923C>T	p.Pro308Leu	p.P308L	ENST00000286574	NM_007191.4	308	cCt/cTt	0	1	1	UPI0000038BEE	0	NA	ENST00000286574		ENSG00000156076	18081		44	3		HGNC	p.P308L		WIF1		SNV							ENST00000286574	protein_coding	getma.org/?cm=var&var=hg19,12,65448993,G,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,Gene3D:2gy5A03		P/L		A	medium	1298/2238		getma.org/?cm=msa&ty=f&p=WIF1_HUMAN&rb=307&re=338&var=P308L	tolerated(0.16)	F5H8A3_HUMAN,B4DX53_HUMAN			YES	WIF1,missense_variant,p.Pro308Leu,ENST00000286574,NM_007191.4;WIF1,missense_variant,p.Ser57Phe,ENST00000543094,;							MODERATE	923/1140	P308L	WIF1_HUMAN			Transcript		benign(0.133)	.	ENSP00000286574		CCDS8971.1			1	
MCM10	0	LGGM	GRCh37	10	13213092	13213092	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	39	27	.	.	ENST00000484800.2:c.178G>T	p.Asp60Tyr	p.D60Y	ENST00000484800		60	Gat/Tat	0	1	1	UPI000013C5E2	0	NA	ENST00000484800		ENSG00000065328	18043		66	1.39		HGNC	p.D60Y		MCM10		SNV							ENST00000484800	protein_coding	getma.org/?cm=var&var=hg19,10,13213092,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13454		D/Y		T	low	281/3157		getma.org/?cm=msa&ty=f&p=MCM10_HUMAN&rb=1&re=178&var=D60Y	deleterious_low_confidence(0.02)	C9J600_HUMAN			YES	MCM10,missense_variant,p.Asp60Tyr,ENST00000378694,;MCM10,missense_variant,p.Asp60Tyr,ENST00000378714,NM_018518.4,NM_182751.2;MCM10,missense_variant,p.Asp60Tyr,ENST00000484800,;MCM10,5_prime_UTR_variant,,ENST00000479669,;							MODERATE	178/2628	D60Y	MCM10_HUMAN			Transcript		benign(0.332)	.	ENSP00000418268		CCDS7096.1			1	
KCNU1	0	LGGM	GRCh37	8	36788557	36788557	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	62	29	.	.	ENST00000399881.3:c.2825A>G	p.Asp942Gly	p.D942G	ENST00000399881	NM_001031836.2	942	gAt/gGt	0	1	1	UPI0000F079EF	0	NA	ENST00000399881		ENSG00000215262	18867		91	-0.455		HGNC	p.D942G		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36788557,A,G&fts=all		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		D/G		G	neutral	2862/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=759&re=958&var=D942G	tolerated(0.69)				YES	KCNU1,missense_variant,p.Asp942Gly,ENST00000399881,NM_001031836.2;KCNU1,3_prime_UTR_variant,,ENST00000518904,;KCNU1,3_prime_UTR_variant,,ENST00000522372,;							MODERATE	2825/3450	D942G	KCNU1_HUMAN			Transcript		benign(0.276)	.	ENSP00000382770		CCDS55220.1			1	
PCDHB11	0	LGGM	GRCh37	5	140580989	140580989	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	39	29	.	.	ENST00000354757.3:c.1642C>T	p.Arg548Cys	p.R548C	ENST00000354757	NM_018931.2	548	Cgc/Tgc	0	1	1	UPI00001273E6	0	getma.org/pdb.php?prot=PCDBB_HUMAN&from=456&to=552&var=R548C	ENST00000354757		ENSG00000197479	8682		68	2.585		HGNC	p.R548C		PCDHB11		SNV							ENST00000354757	protein_coding	getma.org/?cm=var&var=hg19,5,140580989,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/C		T	medium	1642/3271		getma.org/?cm=msa&ty=f&p=PCDBB_HUMAN&rb=456&re=552&var=R548C	deleterious_low_confidence(0)	B4DSF7_HUMAN			YES	PCDHB11,missense_variant,p.Arg548Cys,ENST00000354757,NM_018931.2;PCDHB11,missense_variant,p.Arg183Cys,ENST00000536699,;							MODERATE	1642/2394	R548C	PCDBB_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000346802		CCDS4253.1			1	
WBP2NL	0	LGGM	GRCh37	22	42415664	42415664	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	46	30	.	.	ENST00000328823.9:c.172-2A>C		p.X58_splice	ENST00000328823	NM_152613.2			0	1	1	UPI00001AF89A	0		ENST00000328823		ENSG00000183066	28389		76			HGNC	-		WBP2NL		SNV							ENST00000329620	protein_coding							C		-/2255				F5H7L2_HUMAN			YES	WBP2NL,splice_acceptor_variant,,ENST00000328823,NM_152613.2;WBP2NL,upstream_gene_variant,,ENST00000543212,;WBP2NL,intron_variant,,ENST00000475341,;WBP2NL,splice_acceptor_variant,,ENST00000329620,;WBP2NL,splice_acceptor_variant,,ENST00000412113,;WBP2NL,splice_acceptor_variant,,ENST00000436265,;WBP2NL,intron_variant,,ENST00000445185,;							HIGH	172/930		WBP2L_HUMAN			Transcript			.	ENSP00000332983		CCDS14029.1			1	
BAZ2A	0	LGGM	GRCh37	12	57008906	57008906	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060272	H060272N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	116	31	.	.	ENST00000551812.1:c.628G>A	p.Gly210Ser	p.G210S	ENST00000551812	NM_013449.3	210	Ggc/Agc	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		147	-0.695		HGNC	p.G210S		BAZ2A		SNV							ENST00000551812	protein_coding	getma.org/?cm=var&var=hg19,12,57008906,C,T&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		G/S		T	neutral	822/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=3&re=518&var=G210S	tolerated(0.25)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Gly178Ser,ENST00000179765,;BAZ2A,missense_variant,p.Gly180Ser,ENST00000379441,;BAZ2A,missense_variant,p.Gly210Ser,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Gly208Ser,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000551996,;BAZ2A,downstream_gene_variant,,ENST00000546695,;BAZ2A,upstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000549506,;BAZ2A,upstream_gene_variant,,ENST00000547647,;BAZ2A,downstream_gene_variant,,ENST00000550730,;BAZ2A,downstream_gene_variant,,ENST00000551959,;BAZ2A,upstream_gene_variant,,ENST00000549327,;							MODERATE	628/5718	G210S	BAZ2A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000446880		CCDS44924.1			1	
STAG1	0	LGGM	GRCh37	3	136323198	136323198	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	48	33	.	.	ENST00000383202.2:c.250C>A	p.Pro84Thr	p.P84T	ENST00000383202	NM_005862.2	84	Cct/Act	0	1	1	UPI000020A2DE	0	NA	ENST00000383202		ENSG00000118007	11354		81	1.345		HGNC	p.P84T		STAG1		SNV							ENST00000236698	protein_coding	getma.org/?cm=var&var=hg19,3,136323198,G,T&fts=all		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6		P/T		T	low	507/6053		getma.org/?cm=msa&ty=f&p=STAG1_HUMAN&rb=1&re=156&var=P84T	tolerated(0.75)	Q4LE48_HUMAN			YES	STAG1,missense_variant,p.Pro84Thr,ENST00000383202,NM_005862.2;STAG1,missense_variant,p.Pro84Thr,ENST00000236698,;STAG1,missense_variant,p.Pro84Thr,ENST00000480733,;STAG1,5_prime_UTR_variant,,ENST00000434713,;STAG1,missense_variant,p.Pro84Thr,ENST00000483235,;STAG1,missense_variant,p.Pro84Thr,ENST00000487065,;STAG1,non_coding_transcript_exon_variant,,ENST00000462818,;HMGN1P10,upstream_gene_variant,,ENST00000474557,;							MODERATE	250/3777	P84T	STAG1_HUMAN			Transcript		benign(0.008)	.	ENSP00000372689		CCDS3090.1			1	
PPP2CA	0	LGGM	GRCh37	5	133541724	133541724	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	32	34	.	.	ENST00000481195.1:c.201A>C	p.Glu67Asp	p.E67D	ENST00000481195	NM_002715.2	67	gaA/gaC	0	1	1	UPI0000000C15	0	getma.org/pdb.php?prot=PP2AA_HUMAN&from=50&to=245&var=E67D	ENST00000481195		ENSG00000113575	9299		66	4.48		HGNC	p.E67D		PPP2CA		SNV							ENST00000481195	protein_coding	getma.org/?cm=var&var=hg19,5,133541724,T,G&fts=all		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF216,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114		E/D		G	high	482/4649		getma.org/?cm=msa&ty=f&p=PP2AA_HUMAN&rb=50&re=245&var=E67D	deleterious(0)	E5RHP4_HUMAN,B3KUN1_HUMAN,B3KQ51_HUMAN			YES	PPP2CA,missense_variant,p.Glu67Asp,ENST00000481195,NM_002715.2;CDKL3,missense_variant,p.Glu417Asp,ENST00000609654,;PPP2CA,missense_variant,p.Glu2Asp,ENST00000522385,;PPP2CA,missense_variant,p.Glu54Asp,ENST00000523082,;CDKL3,3_prime_UTR_variant,,ENST00000609383,;CTD-2410N18.5,intron_variant,,ENST00000519718,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000518409,;PPP2CA,non_coding_transcript_exon_variant,,ENST00000231504,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000520515,;PPP2CA,upstream_gene_variant,,ENST00000495833,;							MODERATE	201/930	E67D	PP2AA_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000418447		CCDS4173.1			1	
KAT6A	0	LGGM	GRCh37	8	41836266	41836266	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	42	34	.	.	ENST00000396930.3:c.937A>G	p.Arg313Gly	p.R313G	ENST00000396930	NM_001099412.1	313	Agg/Ggg	0	1		UPI000013D666	0	getma.org/pdb.php?prot=KAT6A_HUMAN&from=201&to=400&var=R313G	ENST00000265713		ENSG00000083168	13013		76	0.41		HGNC	p.R313G		KAT6A		SNV			1				ENST00000485568	protein_coding	getma.org/?cm=var&var=hg19,8,41836266,T,C&fts=all		PROSITE_profiles:PS50016,hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615,Gene3D:3.30.40.10,Superfamily_domains:SSF57903		R/G		C	neutral	1349/9153		getma.org/?cm=msa&ty=f&p=KAT6A_HUMAN&rb=201&re=400&var=R313G		A5PKX7_HUMAN				KAT6A,missense_variant,p.Arg313Gly,ENST00000396930,NM_001099412.1;KAT6A,missense_variant,p.Arg313Gly,ENST00000406337,NM_001099413.1;KAT6A,missense_variant,p.Arg313Gly,ENST00000265713,NM_006766.3;KAT6A,missense_variant,p.Arg313Gly,ENST00000485568,;KAT6A,upstream_gene_variant,,ENST00000470574,;KAT6A,upstream_gene_variant,,ENST00000463961,;							MODERATE	937/6015	R313G	KAT6A_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000265713		CCDS6124.1			1	
ZNF813	0	LGGM	GRCh37	19	53987090	53987090	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060272	H060272N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	60	35	.	.	ENST00000396403.4:c.14A>G	p.Gln5Arg	p.Q5R	ENST00000396403	NM_001004301.3	5	cAg/cGg	0	1	1	UPI000040C511	0	NA	ENST00000396403		ENSG00000198346	33257		95	2.13		HGNC	p.Q5R	COSM1000848	ZNF813		SNV						1	ENST00000396421	protein_coding	getma.org/?cm=var&var=hg19,19,53987090,A,G&fts=all		hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Superfamily_domains:0044637		Q/R		G	medium	142/6151		getma.org/?cm=msa&ty=f&p=ZN813_HUMAN&rb=1&re=37&var=Q5R	deleterious(0.03)	C9JZ01_HUMAN			YES	ZNF813,missense_variant,p.Gln5Arg,ENST00000396403,NM_001004301.3;ZNF813,missense_variant,p.Gln5Arg,ENST00000490956,;ZNF813,missense_variant,p.Gln5Arg,ENST00000396421,;ZNF813,splice_region_variant,,ENST00000468450,;TPM3P6,downstream_gene_variant,,ENST00000391998,;					1		MODERATE	14/1854	Q5R	ZN813_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379684		CCDS46172.1			1	
SDR42E1	0	LGGM	GRCh37	16	82033759	82033759	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	56	36	.	.	ENST00000328945.5:c.139A>T	p.Ile47Phe	p.I47F	ENST00000328945	NM_145168.2	47	Att/Ttt	0	1	1	UPI000003F552	0	getma.org/pdb.php?prot=D42E1_HUMAN&from=12&to=284&var=I47F	ENST00000328945		ENSG00000184860	29834		92	0.75		HGNC	p.I47F		SDR42E1		SNV							ENST00000328945	protein_coding	getma.org/?cm=var&var=hg19,16,82033759,T,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Superfamily_domains:SSF51735		I/F		A	neutral	267/2805		getma.org/?cm=msa&ty=f&p=D42E1_HUMAN&rb=12&re=284&var=I47F	deleterious(0)				YES	SDR42E1,missense_variant,p.Ile47Phe,ENST00000328945,NM_145168.2;SDR42E1,missense_variant,p.Ile44Phe,ENST00000532128,;SDR42E1,non_coding_transcript_exon_variant,,ENST00000534209,;							MODERATE	139/1182	I47F	D42E1_HUMAN			Transcript		benign(0.189)	.	ENSP00000332407		CCDS42205.1			1	
CHD1	0	LGGM	GRCh37	5	98207829	98207829	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	61	40	.	.	ENST00000284049.3:c.3787A>G	p.Ile1263Val	p.I1263V	ENST00000284049	NM_001270.2	1263	Att/Gtt	0	1	1	UPI000013DD75	0	getma.org/pdb.php?prot=CHD1_HUMAN&from=1103&to=1302&var=I1263V	ENST00000284049		ENSG00000153922	1915		101	-0.705		HGNC	p.I1263V		CHD1		SNV							ENST00000284049	protein_coding	getma.org/?cm=var&var=hg19,5,98207829,T,C&fts=all		hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799		I/V		C	neutral	3937/5918		getma.org/?cm=msa&ty=f&p=CHD1_HUMAN&rb=1103&re=1302&var=I1263V	tolerated(0.7)				YES	CHD1,missense_variant,p.Ile1263Val,ENST00000284049,NM_001270.2;CHD1,upstream_gene_variant,,ENST00000511067,;CHD1,non_coding_transcript_exon_variant,,ENST00000514344,;CHD1,non_coding_transcript_exon_variant,,ENST00000508756,;CHD1,upstream_gene_variant,,ENST00000512844,;CHD1,upstream_gene_variant,,ENST00000505657,;CHD1,upstream_gene_variant,,ENST00000414220,;							MODERATE	3787/5133	I1263V	CHD1_HUMAN			Transcript		benign(0.014)	.	ENSP00000284049		CCDS34204.1			1	
TCHHL1	0	LGGM	GRCh37	1	152059035	152059035	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	47	40	.	.	ENST00000368806.1:c.1123C>A	p.Gln375Lys	p.Q375K	ENST00000368806	NM_001008536.1	375	Caa/Aaa	0	1	1	UPI0000496834	0	NA	ENST00000368806		ENSG00000182898	31796		87	1.555		HGNC	p.Q375K		TCHHL1		SNV							ENST00000368806	protein_coding	getma.org/?cm=var&var=hg19,1,152059035,G,T&fts=all		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53		Q/K		T	low	1188/3603		getma.org/?cm=msa&ty=f&p=TCHL1_HUMAN&rb=251&re=414&var=Q375K	deleterious(0.01)				YES	TCHHL1,missense_variant,p.Gln375Lys,ENST00000368806,NM_001008536.1;							MODERATE	1123/2715	Q375K	TCHL1_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000357796		CCDS30857.1			1	
UTP20	0	LGGM	GRCh37	12	101779763	101779763	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060272	H060272N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	102	50	.	.	ENST00000261637.4:c.8220T>C	p.Asp2740=	p.D2740=	ENST00000261637	NM_014503.2	2740	gaT/gaC	0	1	1	UPI00001FB38B	0		ENST00000261637		ENSG00000120800	17897		152			HGNC	p.D2740D	rs758326074	UTP20	6.07E-05	SNV							ENST00000261637	protein_coding			hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11		D		C		8394/9025							YES	UTP20,synonymous_variant,p.=,ENST00000261637,NM_014503.2;							LOW	8220/8358		UTP20_HUMAN			Transcript			.	ENSP00000261637	8.24E-06	CCDS9081.1			1	
ZNF786	0	LGGM	GRCh37	7	148767593	148767593	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	92	56	.	.	ENST00000491431.1:c.2271C>T	p.Ser757=	p.S757=	ENST00000491431	NM_152411.3	757	tcC/tcT	0	1	1	UPI000013FD40	0		ENST00000491431		ENSG00000197362	21806		148			HGNC	p.S720S		ZNF786		SNV							ENST00000451334	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385		S		A		2336/2874				H7BXP3_HUMAN,B4DMI1_HUMAN			YES	ZNF786,synonymous_variant,p.=,ENST00000316286,;ZNF786,synonymous_variant,p.=,ENST00000451334,;ZNF786,synonymous_variant,p.=,ENST00000491431,NM_152411.3;							LOW	2271/2349		ZN786_HUMAN			Transcript			.	ENSP00000417470		CCDS47738.1			1	
FLG2	0	LGGM	GRCh37	1	152328215	152328215	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060272	H060272N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060272N.bam, H060272T.bam	Illumina HiSeq	131	95	.	.	ENST00000388718.5:c.2047C>T	p.Gln683Ter	p.Q683*	ENST00000388718	NM_001014342.2	683	Caa/Taa	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		226	0		HGNC	p.Q683X	rs756954392	FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152328215,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		Q/*		A	NA	2120/9124	1.50E-05	NA					YES	FLG2,stop_gained,p.Gln683Ter,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							HIGH	2047/7176	Q683*	FILA2_HUMAN			Transcript			.	ENSP00000373370	8.24E-06	CCDS30861.1			1	
KLHL9	0	LGGM	GRCh37	9	21334669	21334669	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	6	2	.	.	ENST00000359039.4:c.190C>A	p.Pro64Thr	p.P64T	ENST00000359039		64	Cct/Act	0	1	1	UPI0000049FCF	0	getma.org/pdb.php?prot=KLHL9_HUMAN&from=40&to=148&var=P64T	ENST00000359039		ENSG00000198642	18732		8	2.495		HGNC	p.P64T		KLHL9		SNV			1				ENST00000359039	protein_coding	getma.org/?cm=var&var=hg19,9,21334669,G,T&fts=all		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		P/T		T	medium	711/5710		getma.org/?cm=msa&ty=f&p=KLHL9_HUMAN&rb=40&re=148&var=P64T	deleterious(0.04)	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN			YES	KLHL9,missense_variant,p.Pro64Thr,ENST00000359039,;KLHL9,intron_variant,,ENST00000537938,NM_018847.2;							MODERATE	190/1854	P64T	KLHL9_HUMAN			Transcript		possibly_damaging(0.561)	.	ENSP00000351933		CCDS6503.1			1	
PTPN23	0	LGGM	GRCh37	3	47452516	47452516	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	10	3	.	.	ENST00000265562.4:c.3228C>T	p.Gly1076=	p.G1076=	ENST00000265562	NM_015466.2	1076	ggC/ggT	0	1	1	UPI000006EBC4	0		ENST00000265562		ENSG00000076201	14406		13			HGNC	p.G950G		PTPN23		SNV							ENST00000431726	protein_coding			hmmpanther:PTHR19134:SF27,hmmpanther:PTHR19134		G		T		3305/5244				B4DST5_HUMAN			YES	PTPN23,synonymous_variant,p.=,ENST00000265562,NM_015466.2;PTPN23,synonymous_variant,p.=,ENST00000431726,;SCAP,downstream_gene_variant,,ENST00000265565,NM_012235.2;SCAP,downstream_gene_variant,,ENST00000441517,;SCAP,downstream_gene_variant,,ENST00000545718,;PTPN23,downstream_gene_variant,,ENST00000456221,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;SCAP,downstream_gene_variant,,ENST00000320017,;PTPN23,downstream_gene_variant,,ENST00000477276,;PTPN23,downstream_gene_variant,,ENST00000495653,;							LOW	3228/4911		PTN23_HUMAN			Transcript			.	ENSP00000265562		CCDS2754.1			1	
ABCB6	0	LGGM	GRCh37	2	220083309	220083309	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	10	3	.	.	ENST00000265316.3:c.87C>T	p.Phe29=	p.F29=	ENST00000265316	NM_005689.2	29	ttC/ttT	0	1	1	UPI000004C4BA	0		ENST00000265316		ENSG00000115657	47		13			HGNC	p.F29F		ABCB6		SNV			1				ENST00000439002	protein_coding			Transmembrane_helices:TMhelix		F		A		404/3016				U3THN0_HUMAN,H7C1R6_HUMAN			YES	ABCB6,synonymous_variant,p.=,ENST00000265316,NM_005689.2;ABCB6,synonymous_variant,p.=,ENST00000439002,;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,;ABCB6,upstream_gene_variant,,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000429920,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ATG9A,downstream_gene_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000497882,;ABCB6,upstream_gene_variant,,ENST00000448398,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000417678,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000492953,;ABCB6,upstream_gene_variant,,ENST00000494639,;ABCB6,upstream_gene_variant,,ENST00000452545,;							LOW	87/2529		ABCB6_HUMAN			Transcript			.	ENSP00000265316		CCDS2436.1			1	
PAK1IP1	0	LGGM	GRCh37	6	10705055	10705055	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	44	3	.	.	ENST00000379568.3:c.718G>T	p.Glu240Ter	p.E240*	ENST00000379568	NM_017906.2	240	Gaa/Taa	0	1	1	UPI000013CB73	0	NA	ENST00000379568		ENSG00000111845	20882		47	0		HGNC	p.E240X		PAK1IP1		SNV							ENST00000379568	protein_coding	getma.org/?cm=var&var=hg19,6,10705055,G,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF345,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		E/*		T	NA	1009/1800		NA					YES	PAK1IP1,stop_gained,p.Glu240Ter,ENST00000379568,NM_017906.2;							HIGH	718/1179	E240*	PK1IP_HUMAN			Transcript			.	ENSP00000368887		CCDS34339.1			1	
MNDA	0	LGGM	GRCh37	1	158815690	158815690	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	68	4	.	.	ENST00000368141.4:c.884T>C	p.Val295Ala	p.V295A	ENST00000368141	NM_002432.1	295	gTc/gCc	0	1	1	UPI0000001609	0	getma.org/pdb.php?prot=MNDA_HUMAN&from=208&to=375&var=V295A	ENST00000368141		ENSG00000163563	7183		72	2.395		HGNC	p.V295A		MNDA		SNV							ENST00000368141	protein_coding	getma.org/?cm=var&var=hg19,1,158815690,T,C&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18,Superfamily_domains:SSF159141		V/A		C	medium	1145/1752		getma.org/?cm=msa&ty=f&p=MNDA_HUMAN&rb=208&re=375&var=V295A	deleterious(0.01)	Q5VUU6_HUMAN			YES	MNDA,missense_variant,p.Val295Ala,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;							MODERATE	884/1224	V295A	MNDA_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000357123		CCDS1177.1			1	
HOXB4	0	LGGM	GRCh37	17	46655561	46655561	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	1	4	.	.	ENST00000332503.5:c.121G>T	p.Gly41Cys	p.G41C	ENST00000332503	NM_024015.4	41	Ggc/Tgc	0	1	1	UPI0000062329	0	NA	ENST00000332503		ENSG00000182742	5115		5	1.355		HGNC	p.G41C		HOXB4		SNV							ENST00000332503	protein_coding	getma.org/?cm=var&var=hg19,17,46655561,C,A&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF161		G/C		A	low	1913/3757		getma.org/?cm=msa&ty=f&p=HXB4_HUMAN&rb=1&re=131&var=G41C	deleterious(0.03)				YES	HOXB4,missense_variant,p.Gly41Cys,ENST00000332503,NM_024015.4;HOXB3,intron_variant,,ENST00000498678,;HOXB3,intron_variant,,ENST00000472863,;HOXB3,intron_variant,,ENST00000489475,;HOXB3,intron_variant,,ENST00000460160,;HOXB3,intron_variant,,ENST00000476342,;HOXB3,intron_variant,,ENST00000465120,;HOXB3,upstream_gene_variant,,ENST00000311626,NM_002146.4;HOXB3,upstream_gene_variant,,ENST00000485909,;HOXB3,upstream_gene_variant,,ENST00000490677,;MIR10A,downstream_gene_variant,,ENST00000385043,;HOXB-AS3,intron_variant,,ENST00000465846,;MIR10A,downstream_gene_variant,,ENST00000548801,;HOXB3,intron_variant,,ENST00000552000,;HOXB3,upstream_gene_variant,,ENST00000464266,;							MODERATE	121/756	G41C	HXB4_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000328928		CCDS11529.1			1	
HS3ST1	0	LGGM	GRCh37	4	11401491	11401491	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	7	5	.	.	ENST00000002596.5:c.139C>T	p.Pro47Ser	p.P47S	ENST00000002596	NM_005114.2	47	Cca/Tca	0	1	1	UPI0000072A23	0	NA	ENST00000002596		ENSG00000002587	5194		12	0.345		HGNC	p.P47S		HS3ST1		SNV							ENST00000002596	protein_coding	getma.org/?cm=var&var=hg19,4,11401491,G,A&fts=all		hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300		P/S		A	neutral	1314/8031		getma.org/?cm=msa&ty=f&p=HS3S1_HUMAN&rb=1&re=53&var=P47S	tolerated(0.27)	Q05CH3_HUMAN,E9PDE3_HUMAN			YES	HS3ST1,missense_variant,p.Pro47Ser,ENST00000002596,NM_005114.2;HS3ST1,missense_variant,p.Pro47Ser,ENST00000510712,;HS3ST1,missense_variant,p.Pro47Ser,ENST00000514690,;							MODERATE	139/924	P47S	HS3S1_HUMAN			Transcript		benign(0.002)	.	ENSP00000002596		CCDS3408.1			1	
KTI12	0	LGGM	GRCh37	1	52499332	52499332	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	10	5	.	.	ENST00000371614.1:c.102G>A	p.Val34=	p.V34=	ENST00000371614	NM_138417.2	34	gtG/gtA	0	1	1	UPI000007168B	0		ENST00000371614		ENSG00000198841	25160		15			HGNC	p.V34V		KTI12		SNV							ENST00000371614	protein_coding			hmmpanther:PTHR12435,hmmpanther:PTHR12435:SF1,Pfam_domain:PF08433,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		V		T		157/1714							YES	KTI12,synonymous_variant,p.=,ENST00000371614,NM_138417.2;TXNDC12,3_prime_UTR_variant,,ENST00000610127,;TXNDC12,intron_variant,,ENST00000371626,NM_015913.3;RP11-91A18.4,non_coding_transcript_exon_variant,,ENST00000425802,;TXNDC12,intron_variant,,ENST00000472624,;							LOW	102/1065		KTI12_HUMAN			Transcript			.	ENSP00000360676		CCDS562.1			1	
PCDHA5	0	LGGM	GRCh37	5	140203463	140203463	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	50	6	.	.	ENST00000529859.1:c.2103C>T	p.Ile701=	p.I701=	ENST00000529859	NM_018908.2	701	atC/atT	0	1	1	UPI00001273CD	0		ENST00000529859		ENSG00000204965	8671		56			HGNC	p.I701I		PCDHA5		SNV							ENST00000529619	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111		I		T		2103/5218							YES	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,;							LOW	2103/2811		PCDA5_HUMAN			Transcript			.	ENSP00000436557		CCDS54917.1			1	
IKBKE-AS1	0	LGGM	GRCh37	1	206670973	206670973	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	31	6	.	.	ENST00000367119.1:c.78G>T	p.Arg26Ser	p.R26S	ENST00000367119		26	agG/agT	0	1	1	UPI000013E1EB	0		ENST00000367119		ENSG00000162888	32061		37			HGNC	p.R26S		C1orf147		SNV							ENST00000367119	protein_coding					R/S		A		89/2096							YES	C1orf147,missense_variant,p.Arg26Ser,ENST00000367119,;IKBKE,downstream_gene_variant,,ENST00000367120,NM_014002.3,NM_001193322.1;IKBKE,downstream_gene_variant,,ENST00000537984,NM_001193321.1;							MODERATE	78/813		CA147_HUMAN			Transcript		benign(0.412)	.	ENSP00000356086					1	
CCDC178	0	LGGM	GRCh37	18	30926219	30926219	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	17	6	.	.	ENST00000383096.3:c.614G>A	p.Trp205Ter	p.W205*	ENST00000383096		205	tGg/tAg	0	1	1	UPI000022A700	0	NA	ENST00000383096		ENSG00000166960	29588		23	0		HGNC	p.W205X		CCDC178		SNV							ENST00000403303	protein_coding	getma.org/?cm=var&var=hg19,18,30926219,C,T&fts=all				W/*		T	NA	797/3391		NA		J3QKU2_HUMAN			YES	CCDC178,stop_gained,p.Trp205Ter,ENST00000383096,;CCDC178,stop_gained,p.Trp205Ter,ENST00000403303,NM_001105528.1;CCDC178,stop_gained,p.Trp205Ter,ENST00000583930,;CCDC178,stop_gained,p.Trp205Ter,ENST00000300227,NM_198995.2;CCDC178,stop_gained,p.Trp205Ter,ENST00000406524,;CCDC178,stop_gained,p.Trp205Ter,ENST00000579947,;CCDC178,stop_gained,p.Trp205Ter,ENST00000402325,;CCDC178,intron_variant,,ENST00000579916,;CCDC178,stop_gained,p.Trp205Ter,ENST00000399177,;CCDC178,upstream_gene_variant,,ENST00000577268,;							HIGH	614/2604	W205*	CC178_HUMAN			Transcript			.	ENSP00000372576		CCDS42424.1			1	
XYLB	0	LGGM	GRCh37	3	38411655	38411655	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	26	7	.	.	ENST00000207870.3:c.755G>A	p.Cys252Tyr	p.C252Y	ENST00000207870	NM_005108.3	252	tGc/tAc	0	1	1	UPI0000160544	0	NA	ENST00000207870		ENSG00000093217	12839		33	-1.415		HGNC	p.C252Y		XYLB		SNV							ENST00000207870	protein_coding	getma.org/?cm=var&var=hg19,3,38411655,G,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF57,Superfamily_domains:SSF53067		C/Y		A	neutral	845/3664		getma.org/?cm=msa&ty=f&p=XYLB_HUMAN&rb=9&re=287&var=C252Y	tolerated(1)	B4DDT2_HUMAN,B3KM56_HUMAN			YES	XYLB,missense_variant,p.Cys252Tyr,ENST00000207870,NM_005108.3;XYLB,missense_variant,p.Cys115Tyr,ENST00000542835,;XYLB,non_coding_transcript_exon_variant,,ENST00000487569,;XYLB,3_prime_UTR_variant,,ENST00000424034,;							MODERATE	755/1611	C252Y	XYLB_HUMAN			Transcript		benign(0.002)	.	ENSP00000207870		CCDS2678.1			1	
NETO1	0	LGGM	GRCh37	18	70417299	70417299	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	3	7	.	.	ENST00000327305.6:c.1539G>A	p.Gln513=	p.Q513=	ENST00000327305	NM_138966.3	513	caG/caA	0	1	1	UPI000013E59E	0		ENST00000327305		ENSG00000166342	13823		10			HGNC	p.Q513Q		NETO1		SNV							ENST00000583169	protein_coding					Q		T		2197/3058							YES	NETO1,splice_region_variant,p.=,ENST00000327305,NM_138966.3;NETO1,splice_region_variant,p.=,ENST00000583169,NM_001201465.1;NETO1,splice_region_variant,p.=,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;							LOW	1539/1602		NETO1_HUMAN			Transcript			.	ENSP00000313088		CCDS12000.1			1	
VANGL2	0	LGGM	GRCh37	1	160388900	160388900	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	29	7	.	.	ENST00000368061.2:c.301C>T	p.Leu101=	p.L101=	ENST00000368061	NM_020335.2	101	Ctg/Ttg	0	1	1	UPI00001C1D79	0		ENST00000368061		ENSG00000162738	15511		36			HGNC	p.L101L		VANGL2		SNV			1				ENST00000368061	protein_coding			Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10		L		T		775/5340							YES	VANGL2,synonymous_variant,p.=,ENST00000368061,NM_020335.2;VANGL2,upstream_gene_variant,,ENST00000483408,;							LOW	301/1566		VANG2_HUMAN			Transcript			.	ENSP00000357040		CCDS30915.1			1	
XYLB	0	LGGM	GRCh37	3	38411656	38411656	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	26	7	.	.	ENST00000207870.3:c.756C>A	p.Cys252Ter	p.C252*	ENST00000207870	NM_005108.3	252	tgC/tgA	0	1	1	UPI0000160544	0	NA	ENST00000207870		ENSG00000093217	12839		33	0		HGNC	p.C252X		XYLB		SNV							ENST00000207870	protein_coding	getma.org/?cm=var&var=hg19,3,38411656,C,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF57,Superfamily_domains:SSF53067		C/*		A	NA	846/3664		NA		B4DDT2_HUMAN,B3KM56_HUMAN			YES	XYLB,stop_gained,p.Cys252Ter,ENST00000207870,NM_005108.3;XYLB,stop_gained,p.Cys115Ter,ENST00000542835,;XYLB,non_coding_transcript_exon_variant,,ENST00000487569,;XYLB,3_prime_UTR_variant,,ENST00000424034,;							HIGH	756/1611	C252*	XYLB_HUMAN			Transcript			.	ENSP00000207870		CCDS2678.1			1	
LRRIQ3	0	LGGM	GRCh37	1	74621494	74621494	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	29	8	.	.	ENST00000354431.4:c.630T>C	p.Asn210=	p.N210=	ENST00000354431	NM_001105659.1	210	aaT/aaC	0	1	1	UPI000155D493	0		ENST00000354431		ENSG00000162620	28318		37			HGNC	p.N102N		LRRIQ3		SNV							ENST00000370909	protein_coding			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF206		N		G		822/2849							YES	LRRIQ3,synonymous_variant,p.=,ENST00000354431,NM_001105659.1;LRRIQ3,synonymous_variant,p.=,ENST00000395089,;LRRIQ3,synonymous_variant,p.=,ENST00000370909,;LRRIQ3,synonymous_variant,p.=,ENST00000444984,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000468759,;LRRIQ3,non_coding_transcript_exon_variant,,ENST00000495179,;LRRIQ3,synonymous_variant,p.=,ENST00000415760,;							LOW	630/1875		LRIQ3_HUMAN			Transcript			.	ENSP00000346414		CCDS41350.1			1	
COL9A1	0	LGGM	GRCh37	6	70980017	70980017	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	33	8	.	.	ENST00000357250.6:c.1197A>T	p.Arg399Ser	p.R399S	ENST00000357250	NM_001851.4	399	agA/agT	0	1	1	UPI000020D14B	0	NA	ENST00000357250		ENSG00000112280	2217		41	1.335		HGNC	p.R156S		COL9A1		SNV			1				ENST00000320755	protein_coding	getma.org/?cm=var&var=hg19,6,70980017,T,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454,Low_complexity_(Seg):seg		R/S		A	low	1356/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=357&re=409&var=R399S					YES	COL9A1,missense_variant,p.Arg399Ser,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Arg156Ser,ENST00000320755,NM_078485.3;COL9A1,missense_variant,p.Arg156Ser,ENST00000370499,;COL9A1,intron_variant,,ENST00000489611,;COL9A1,downstream_gene_variant,,ENST00000470652,;							MODERATE	1197/2766	R399S	CO9A1_HUMAN			Transcript		benign(0.037)	.	ENSP00000349790		CCDS4971.1			1	
GABARAPL1	0	LGGM	GRCh37	12	10370731	10370731	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	19	10	.	.	ENST00000266458.5:c.160G>C	p.Asp54His	p.D54H	ENST00000266458	NM_031412.2	54	Gac/Cac	0	1	1	UPI00000233F0	0	getma.org/pdb.php?prot=GBRL3_HUMAN&from=13&to=116&var=D54H	ENST00000266458		ENSG00000139112	4068		29	2.35		HGNC	p.D54H		GABARAPL1		SNV							ENST00000421801	protein_coding	getma.org/?cm=var&var=hg19,12,10370731,G,C&fts=all		hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF16,Pfam_domain:PF02991,Gene3D:3.10.20.90,Superfamily_domains:SSF54236		D/H		C	medium	485/1955		getma.org/?cm=msa&ty=f&p=GBRL3_HUMAN&rb=13&re=116&var=D54H	deleterious(0)	F5GZY7_HUMAN,F5GYD9_HUMAN			YES	GABARAPL1,missense_variant,p.Asp54His,ENST00000266458,NM_031412.2;GABARAPL1,missense_variant,p.Asp54His,ENST00000421801,;GABARAPL1,missense_variant,p.Asp54His,ENST00000543602,;GABARAPL1,missense_variant,p.Asp54His,ENST00000545887,;GABARAPL1,missense_variant,p.Asp54His,ENST00000545859,;GABARAPL1,5_prime_UTR_variant,,ENST00000546017,;GABARAPL1,5_prime_UTR_variant,,ENST00000539170,;GABARAPL1,5_prime_UTR_variant,,ENST00000535576,;GABARAPL1,5_prime_UTR_variant,,ENST00000545290,;GABARAPL1,5_prime_UTR_variant,,ENST00000544284,;GABARAPL1,intron_variant,,ENST00000545047,;RP11-656E20.5,upstream_gene_variant,,ENST00000538416,;GABARAPL1,non_coding_transcript_exon_variant,,ENST00000539289,;GABARAPL1,3_prime_UTR_variant,,ENST00000541960,;GABARAPL1,3_prime_UTR_variant,,ENST00000540424,;GABARAPL1,3_prime_UTR_variant,,ENST00000542722,;GABARAPL1,intron_variant,,ENST00000541453,;GABARAPL1,downstream_gene_variant,,ENST00000539408,;GABARAPL1,downstream_gene_variant,,ENST00000537201,;							MODERATE	160/354	D54H	GBRL1_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000266458		CCDS8620.1			1	
PTPRD	0	LGGM	GRCh37	9	8517861	8517861	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	5	11	.	.	ENST00000356435.5:c.1530C>T	p.Ile510=	p.I510=	ENST00000356435		510	atC/atT	0	1		UPI0000132990	0		ENST00000356435		ENSG00000153707	9668		16			HGNC	p.I497I	rs770327332	PTPRD		SNV							ENST00000360074	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00409,Superfamily_domains:SSF49265		I		A		1636/9472	1.52E-05			C9J6E4_HUMAN,B4DK48_HUMAN				PTPRD,synonymous_variant,p.=,ENST00000381196,NM_002839.3;PTPRD,synonymous_variant,p.=,ENST00000356435,;PTPRD,synonymous_variant,p.=,ENST00000360074,;PTPRD,synonymous_variant,p.=,ENST00000358503,;PTPRD,synonymous_variant,p.=,ENST00000355233,NM_130393.3,NM_130392.3,NM_130391.3;PTPRD,synonymous_variant,p.=,ENST00000397617,;PTPRD,synonymous_variant,p.=,ENST00000537002,;PTPRD,synonymous_variant,p.=,ENST00000397611,NM_001040712.2;PTPRD,synonymous_variant,p.=,ENST00000540109,;PTPRD,synonymous_variant,p.=,ENST00000486161,;PTPRD,synonymous_variant,p.=,ENST00000397606,NM_001171025.1;	0.000116						LOW	1530/5739		PTPRD_HUMAN			Transcript			.	ENSP00000348812	1.65E-05	CCDS43786.1			1	
MTMR11	0	LGGM	GRCh37	1	149902294	149902294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	77	11	.	.	ENST00000439741.2:c.1610C>T	p.Pro537Leu	p.P537L	ENST00000439741	NM_001145862.1	537	cCa/cTa	0	1	1	UPI000173AA17	0	NA	ENST00000439741		ENSG00000014914	24307		88	2.14		HGNC	p.P465L		MTMR11		SNV							ENST00000369140	protein_coding	getma.org/?cm=var&var=hg19,1,149902294,G,A&fts=all		Superfamily_domains:SSF52799,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,PROSITE_profiles:PS51339		P/L		A	medium	1861/2856		getma.org/?cm=msa&ty=f&p=MTMRB_HUMAN&rb=196&re=639&var=P537L	tolerated(0.18)				YES	MTMR11,missense_variant,p.Pro537Leu,ENST00000439741,NM_001145862.1;MTMR11,missense_variant,p.Pro465Leu,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,,ENST00000490310,;MTMR11,non_coding_transcript_exon_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000479272,;MTMR11,non_coding_transcript_exon_variant,,ENST00000482343,;							MODERATE	1610/2130	P537L	MTMRB_HUMAN			Transcript		benign(0.013)	.	ENSP00000391668		CCDS53360.1			1	
MGAT5	0	LGGM	GRCh37	2	135028044	135028044	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	23	11	.	.	ENST00000409645.1:c.329A>G	p.Asn110Ser	p.N110S	ENST00000409645		110	aAt/aGt	0	1		UPI0000049D8F	0	NA	ENST00000281923		ENSG00000152127	7049		34	1.955		HGNC	p.N110S		MGAT5		SNV							ENST00000281923	protein_coding	getma.org/?cm=var&var=hg19,2,135028044,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15027,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF3,Low_complexity_(Seg):seg		N/S		G	medium	474/2421		getma.org/?cm=msa&ty=f&p=MGT5A_HUMAN&rb=1&re=739&var=N110S	tolerated(0.22)	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN				MGAT5,missense_variant,p.Asn110Ser,ENST00000409645,;MGAT5,missense_variant,p.Asn110Ser,ENST00000281923,NM_002410.4;							MODERATE	329/2226	N110S	MGT5A_HUMAN			Transcript		benign(0.185)	.	ENSP00000281923		CCDS2171.1			1	
R3HDML	0	LGGM	GRCh37	20	42969914	42969914	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	15	12	.	.	ENST00000217043.2:c.340A>T	p.Met114Leu	p.M114L	ENST00000217043	NM_178491.3	114	Atg/Ttg	0	1	1	UPI00000422F8	0	getma.org/pdb.php?prot=CRSPL_HUMAN&from=67&to=207&var=M114L	ENST00000217043		ENSG00000101074	16249		27	-0.785		HGNC	p.M114L		R3HDML		SNV							ENST00000217043	protein_coding	getma.org/?cm=var&var=hg19,20,42969914,A,T&fts=all		Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,SMART_domains:SM00198,Superfamily_domains:SSF55797		M/L		T	neutral	512/1377		getma.org/?cm=msa&ty=f&p=CRSPL_HUMAN&rb=67&re=207&var=M114L	tolerated(1)				YES	R3HDML,missense_variant,p.Met114Leu,ENST00000217043,NM_178491.3;Y_RNA,upstream_gene_variant,,ENST00000364493,;							MODERATE	340/762	M114L	CRSPL_HUMAN			Transcript		benign(0.006)	.	ENSP00000217043		CCDS13329.1			1	
YEATS2	0	LGGM	GRCh37	3	183442310	183442310	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	7	12	.	.	ENST00000305135.5:c.641A>T	p.Asn214Ile	p.N214I	ENST00000305135	NM_018023.4	214	aAt/aTt	0	1	1	UPI00001BB2B9	0	getma.org/pdb.php?prot=YETS2_HUMAN&from=207&to=317&var=N214I	ENST00000305135		ENSG00000163872	25489		19	3.46		HGNC	p.N214I		YEATS2		SNV							ENST00000421660	protein_coding	getma.org/?cm=var&var=hg19,3,183442310,A,T&fts=all		PROSITE_profiles:PS51037,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7		N/I		T	medium	836/6506		getma.org/?cm=msa&ty=f&p=YETS2_HUMAN&rb=207&re=317&var=N214I	deleterious(0)				YES	YEATS2,missense_variant,p.Asn214Ile,ENST00000305135,NM_018023.4;							MODERATE	641/4269	N214I	YETS2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306983		CCDS43175.1			1	
C11orf63	0	LGGM	GRCh37	11	122805330	122805330	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	18	12	.	.	ENST00000227349.2:c.1181C>T	p.Pro394Leu	p.P394L	ENST00000227349	NM_024806.3	394	cCt/cTt	0	1	1	UPI00001FA5AB	0	NA	ENST00000227349		ENSG00000109944	26288		30	0.69		HGNC	p.P394L		C11orf63		SNV							ENST00000227349	protein_coding	getma.org/?cm=var&var=hg19,11,122805330,C,T&fts=all		hmmpanther:PTHR14726,Low_complexity_(Seg):seg		P/L		T	neutral	1478/2910		getma.org/?cm=msa&ty=f&p=CK063_HUMAN&rb=211&re=776&var=P394L	tolerated(0.33)				YES	C11orf63,missense_variant,p.Pro394Leu,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Pro394Leu,ENST00000531316,;C11orf63,upstream_gene_variant,,ENST00000534362,;							MODERATE	1181/2337	P394L	CK063_HUMAN			Transcript		benign(0.012)	.	ENSP00000227349		CCDS8438.1			1	
RNF144A	0	LGGM	GRCh37	2	7160744	7160744	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	3	12	.	.	ENST00000320892.6:c.442G>T	p.Ala148Ser	p.A148S	ENST00000320892	NM_014746.3	148	Gcc/Tcc	0	1	1	UPI00001E058A	0	NA	ENST00000320892		ENSG00000151692	20457		15	1.545		HGNC	p.A148S		RNF144A		SNV							ENST00000320892	protein_coding	getma.org/?cm=var&var=hg19,2,7160744,G,T&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF99,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850		A/S		T	low	884/5743		getma.org/?cm=msa&ty=f&p=R144A_HUMAN&rb=91&re=156&var=A148S	tolerated(0.69)	C9JLH4_HUMAN			YES	RNF144A,missense_variant,p.Ala148Ser,ENST00000320892,NM_014746.3;RNF144A,missense_variant,p.Ala144Ser,ENST00000432850,;RNF144A,non_coding_transcript_exon_variant,,ENST00000467276,;RNF144A,non_coding_transcript_exon_variant,,ENST00000480970,;RNF144A,downstream_gene_variant,,ENST00000471060,;							MODERATE	442/879	A148S	R144A_HUMAN			Transcript		benign(0.005)	.	ENSP00000321330		CCDS1657.1			1	
DCAF8L1	0	LGGM	GRCh37	X	27997981	27997981	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	15	13	.	.	ENST00000441525.1:c.1471C>T	p.Pro491Ser	p.P491S	ENST00000441525	NM_001017930.1	491	Cct/Tct	0	1	1	UPI000022DD1B	0	NA	ENST00000441525		ENSG00000226372	31810		28	3.26		HGNC	p.P491S		DCAF8L1		SNV							ENST00000441525	protein_coding	getma.org/?cm=var&var=hg19,X,27997981,G,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		P/S		A	medium	1586/3457		getma.org/?cm=msa&ty=f&p=DC8L1_HUMAN&rb=479&re=509&var=P491S	deleterious(0)				YES	DCAF8L1,missense_variant,p.Pro491Ser,ENST00000441525,NM_001017930.1;							MODERATE	1471/1803	P491S	DC8L1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000405222		CCDS35222.1			1	
C9orf91	0	LGGM	GRCh37	9	117405503	117405503	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	26	14	.	.	ENST00000288502.4:c.939A>G	p.Arg313=	p.R313=	ENST00000288502		313	cgA/cgG	0	1	1	UPI00001B55A1	0		ENST00000288502		ENSG00000157693	24513	8.64E-05	40			HGNC	p.R313R	rs773418723	C9orf91		SNV							ENST00000288502	protein_coding			hmmpanther:PTHR31193,hmmpanther:PTHR31193:SF1,Pfam_domain:PF14800		R		G		1376/2314							YES	C9orf91,synonymous_variant,p.=,ENST00000374049,NM_153045.3;C9orf91,synonymous_variant,p.=,ENST00000288502,;C9orf91,upstream_gene_variant,,ENST00000482552,;							LOW	939/1029		CI091_HUMAN			Transcript			.	ENSP00000288502	8.24E-06	CCDS6808.1			1	
RIN1	0	LGGM	GRCh37	11	66100038	66100038	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	20	15	.	.	ENST00000311320.4:c.2061G>A	p.Gly687=	p.G687=	ENST00000311320	NM_004292.2	687	ggG/ggA	0	1	1	UPI000013F14D	0		ENST00000311320		ENSG00000174791	18749	8.65E-05	35			HGNC	p.G521G	rs147747990	RIN1		SNV	A:0			0.000194			ENST00000530056	protein_coding		T:0	PROSITE_profiles:PS50200,hmmpanther:PTHR23101:SF54,hmmpanther:PTHR23101,Pfam_domain:PF00788,SMART_domains:SM00314		G	A:0.0001	T		2188/2693	0.000106				T:0	T:0	YES	RIN1,synonymous_variant,p.=,ENST00000311320,NM_004292.2;RIN1,synonymous_variant,p.=,ENST00000530056,;RIN1,intron_variant,,ENST00000424433,;BRMS1,downstream_gene_variant,,ENST00000359957,NM_015399.3;BRMS1,downstream_gene_variant,,ENST00000425825,NM_001024957.1;BRMS1,downstream_gene_variant,,ENST00000524699,;RP11-867G23.12,upstream_gene_variant,,ENST00000526655,;RIN1,downstream_gene_variant,,ENST00000524804,;RIN1,3_prime_UTR_variant,,ENST00000534824,;RIN1,non_coding_transcript_exon_variant,,ENST00000526246,;RIN1,downstream_gene_variant,,ENST00000530745,;BRMS1,downstream_gene_variant,,ENST00000530238,;RIN1,downstream_gene_variant,,ENST00000528006,;		T:0.0002					LOW	2061/2352		RIN1_HUMAN		T:0.001	Transcript			.	ENSP00000310406	8.24E-05	CCDS31614.1		T:0	1	
ZNF521	0	LGGM	GRCh37	18	22807613	22807613	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	17	16	.	.	ENST00000361524.3:c.269C>A	p.Ser90Ter	p.S90*	ENST00000361524	NM_015461.2	90	tCa/tAa	0	1	1	UPI000006F982	0	NA	ENST00000361524		ENSG00000198795	24605		33	0		HGNC	p.S90X		ZNF521		SNV							ENST00000399425	protein_coding	getma.org/?cm=var&var=hg19,18,22807613,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32		S/*		T	NA	418/4871		NA		J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN			YES	ZNF521,stop_gained,p.Ser90Ter,ENST00000361524,NM_015461.2;ZNF521,stop_gained,p.Ser90Ter,ENST00000538137,;ZNF521,stop_gained,p.Ser90Ter,ENST00000577801,;ZNF521,stop_gained,p.Ser37Ter,ENST00000577720,;ZNF521,stop_gained,p.Ser90Ter,ENST00000580488,;ZNF521,5_prime_UTR_variant,,ENST00000584787,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,non_coding_transcript_exon_variant,,ENST00000579111,;ZNF521,non_coding_transcript_exon_variant,,ENST00000583005,;ZNF521,non_coding_transcript_exon_variant,,ENST00000581869,;ZNF521,stop_gained,p.Ser90Ter,ENST00000399425,;ZNF521,non_coding_transcript_exon_variant,,ENST00000583398,;							HIGH	269/3936	S90*	ZN521_HUMAN			Transcript			.	ENSP00000354794		CCDS32806.1			1	
HAS2	0	LGGM	GRCh37	8	122629409	122629409	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	81	16	.	.	ENST00000303924.4:c.665C>G	p.Ser222Cys	p.S222C	ENST00000303924	NM_005328.2	222	tCt/tGt	0	1	1	UPI000012C0A9	0	NA	ENST00000303924		ENSG00000170961	4819		97	0		HGNC	p.S222C		HAS2		SNV							ENST00000303924	protein_coding	getma.org/?cm=var&var=hg19,8,122629409,G,C&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF03142,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Superfamily_domains:SSF53448		S/C		C	neutral	1203/4190		getma.org/?cm=msa&ty=f&p=HAS2_HUMAN&rb=199&re=465&var=S222C	tolerated(0.07)				YES	HAS2,missense_variant,p.Ser222Cys,ENST00000303924,NM_005328.2;							MODERATE	665/1659	S222C	HYAS2_HUMAN			Transcript		benign(0.022)	.	ENSP00000306991		CCDS6335.1			1	
DNAJB8	0	LGGM	GRCh37	3	128182042	128182042	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	14	17	.	.	ENST00000469083.1:c.47C>T	p.Pro16Leu	p.P16L	ENST00000469083		16	cCg/cTg	0	1		UPI0000129437	0	getma.org/pdb.php?prot=DNJB8_HUMAN&from=3&to=66&var=P16L	ENST00000319153		ENSG00000179407	23699		31	0.795		HGNC	p.P16L	rs749327384	DNAJB8		SNV							ENST00000469083	protein_coding	getma.org/?cm=var&var=hg19,3,128182042,G,A&fts=all		Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242,SMART_domains:SM00271,Superfamily_domains:SSF46565		P/L		A	neutral	1708/2465	1.50E-05	getma.org/?cm=msa&ty=f&p=DNJB8_HUMAN&rb=3&re=66&var=P16L	deleterious(0.03)					DNAJB8,missense_variant,p.Pro16Leu,ENST00000469083,;DNAJB8,missense_variant,p.Pro16Leu,ENST00000319153,NM_153330.3;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;							MODERATE	47/699	P16L	DNJB8_HUMAN			Transcript		benign(0.054)	.	ENSP00000316053	8.24E-06	CCDS3048.1			1	
DIDO1	0	LGGM	GRCh37	20	61542450	61542450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	16	17	.	.	ENST00000266070.4:c.515G>A	p.Arg172Gln	p.R172Q	ENST00000266070	NM_033081.2	172	cGg/cAg	0	1	1	UPI0000206380	0	NA	ENST00000266070		ENSG00000101191	2680		33	2.19		HGNC	p.R172Q		DIDO1		SNV							ENST00000370368	protein_coding	getma.org/?cm=var&var=hg19,20,61542450,C,T&fts=all		hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914		R/Q		T	medium	841/8544		getma.org/?cm=msa&ty=f&p=DIDO1_HUMAN&rb=1&re=258&var=R172Q					YES	DIDO1,missense_variant,p.Arg172Gln,ENST00000266070,NM_033081.2;DIDO1,missense_variant,p.Arg172Gln,ENST00000395343,NM_001193369.1;DIDO1,missense_variant,p.Arg172Gln,ENST00000395335,NM_080797.3;DIDO1,missense_variant,p.Arg172Gln,ENST00000395340,NM_001193370.1;DIDO1,missense_variant,p.Arg172Gln,ENST00000370371,NM_022105.4;DIDO1,missense_variant,p.Arg172Gln,ENST00000354665,NM_080796.3;DIDO1,missense_variant,p.Arg172Gln,ENST00000370368,;DIDO1,missense_variant,p.Arg172Gln,ENST00000370366,;DIDO1,missense_variant,p.Arg172Gln,ENST00000266071,;							MODERATE	515/6723	R172Q	DIDO1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000266070		CCDS33506.1			1	
PLD5	0	LGGM	GRCh37	1	242263991	242263991	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	46	19	.	.	ENST00000536534.2:c.1333A>G	p.Thr445Ala	p.T445A	ENST00000536534		445	Aca/Gca	0	1		UPI00000700BA	0	NA	ENST00000442594		ENSG00000180287	26879		65	2.665		HGNC	p.T353A		PLD5		SNV							ENST00000442594	protein_coding	getma.org/?cm=var&var=hg19,1,242263991,T,C&fts=all		Gene3D:3.30.870.10,hmmpanther:PTHR10185,hmmpanther:PTHR10185:SF9,SMART_domains:SM00155,Superfamily_domains:SSF56024		T/A		C	medium	1567/2729		getma.org/?cm=msa&ty=f&p=PLD5_HUMAN&rb=414&re=480&var=T445A	deleterious(0)					PLD5,missense_variant,p.Thr445Ala,ENST00000536534,;PLD5,missense_variant,p.Thr353Ala,ENST00000442594,NM_152666.2;PLD5,missense_variant,p.Thr383Ala,ENST00000427495,NM_001195811.1,NM_001195812.1;PLD5,3_prime_UTR_variant,,ENST00000314833,;PLD5,3_prime_UTR_variant,,ENST00000366545,;							MODERATE	1057/1335	T445A	PLD5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000414188					1	
NBEAL1	0	LGGM	GRCh37	2	203991609	203991609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	52	19	.	.	ENST00000449802.1:c.3121G>T	p.Gly1041Cys	p.G1041C	ENST00000449802	NM_001114132.1	1041	Ggt/Tgt	0	1	1	UPI000194EC27	0	NA	ENST00000449802		ENSG00000144426	20681		71	2.365		HGNC	p.G1041C		NBEAL1		SNV							ENST00000449802	protein_coding	getma.org/?cm=var&var=hg19,2,203991609,G,T&fts=all		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743		G/C		T	medium	3454/10938		getma.org/?cm=msa&ty=f&p=NBEL1_HUMAN&rb=1002&re=1201&var=G1041C	deleterious(0)				YES	NBEAL1,missense_variant,p.Gly1041Cys,ENST00000449802,NM_001114132.1;							MODERATE	3121/8085	G1041C	NBEL1_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000399903		CCDS46495.1			1	
ZNF410	0	LGGM	GRCh37	14	74364978	74364978	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	18	19	.	.	ENST00000442160.3:c.631+13G>A		*211*	ENST00000442160	NM_001242924.1			0	1		UPI000007240C	0		ENST00000555044		ENSG00000119725	20144	0.000201	37			HGNC	p.R145Q	rs759002772	ZNF410		SNV							ENST00000556797	protein_coding							A		-/2601				J3KNQ6_HUMAN,G3V565_HUMAN,G3V4W2_HUMAN,G3V4H7_HUMAN,G3V4E6_HUMAN,G3V3W2_HUMAN,G3V398_HUMAN,B4DPW2_HUMAN,B4DPE9_HUMAN				ZNF410,missense_variant,p.Arg145Gln,ENST00000556797,;ZNF410,intron_variant,,ENST00000555044,NM_021188.2,NM_001242928.1;ZNF410,intron_variant,,ENST00000324593,NM_001242926.1;ZNF410,intron_variant,,ENST00000334521,;ZNF410,intron_variant,,ENST00000442160,NM_001242924.1;ZNF410,intron_variant,,ENST00000540593,NM_001242927.1;ZNF410,downstream_gene_variant,,ENST00000556160,;ZNF410,downstream_gene_variant,,ENST00000556659,;ZNF410,downstream_gene_variant,,ENST00000557495,;ZNF410,downstream_gene_variant,,ENST00000557363,;ZNF410,downstream_gene_variant,,ENST00000555730,;ZNF410,downstream_gene_variant,,ENST00000554797,;RP5-1021I20.5,intron_variant,,ENST00000554009,;ZNF410,intron_variant,,ENST00000412490,;ZNF410,intron_variant,,ENST00000541357,;ZNF410,intron_variant,,ENST00000555602,;RP5-1021I20.4,intron_variant,,ENST00000556551,;ZNF410,intron_variant,,ENST00000398139,;ZNF410,intron_variant,,ENST00000556396,;ZNF410,intron_variant,,ENST00000554582,;							MODIFIER	-/1437		ZN410_HUMAN			Transcript			.	ENSP00000451763	1.65E-05	CCDS9821.1			1	
UNC13A	0	LGGM	GRCh37	19	17732683	17732683	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	32	20	.	.	ENST00000519716.2:c.4204-4G>T		p.X1402_splice	ENST00000519716	NM_001080421.2			0	1	1	UPI00006C19A7	0		ENST00000519716		ENSG00000130477	23150		52			HGNC	p.L1400L		UNC13A		SNV			1				ENST00000252773	protein_coding							A		-/9838							YES	UNC13A,splice_region_variant,,ENST00000428389,;UNC13A,splice_region_variant,,ENST00000519716,NM_001080421.2;UNC13A,splice_region_variant,p.=,ENST00000252773,;UNC13A,splice_region_variant,,ENST00000551649,;UNC13A,intron_variant,,ENST00000552293,;UNC13A,intron_variant,,ENST00000550896,;UNC13A,downstream_gene_variant,,ENST00000601528,;UNC13A,upstream_gene_variant,,ENST00000517497,;							LOW	-/5112		UN13A_HUMAN			Transcript			.	ENSP00000429562		CCDS46013.2			1	
DSC3	0	LGGM	GRCh37	18	28598632	28598632	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	7	21	.	.	ENST00000360428.4:c.1077T>A	p.Ala359=	p.A359=	ENST00000360428	NM_001941.3	359	gcT/gcA	0	1	1	UPI000004CAAD	0		ENST00000360428		ENSG00000134762	3037		28			HGNC	p.A359A		DSC3		SNV			1				ENST00000360428	protein_coding			Prints_domain:PR00205,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025,PROSITE_profiles:PS50268		A		T		1158/6939							YES	DSC3,splice_region_variant,p.=,ENST00000434452,NM_024423.2;DSC3,splice_region_variant,p.=,ENST00000360428,NM_001941.3;							LOW	1077/2691		DSC3_HUMAN			Transcript			.	ENSP00000353608		CCDS32810.1			1	
SMG5	0	LGGM	GRCh37	1	156220706	156220706	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	21	21	.	.	ENST00000361813.5:c.2910G>A	p.Val970=	p.V970=	ENST00000361813	NM_015327.2	970	gtG/gtA	0	1	1	UPI0000050C24	0		ENST00000361813		ENSG00000198952	24644		42			HGNC	p.V970V		SMG5		SNV							ENST00000361813	protein_coding			hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1,SMART_domains:SM00670		V		T		3055/4559							YES	SMG5,synonymous_variant,p.=,ENST00000361813,NM_015327.2;SMG5,intron_variant,,ENST00000368267,;PAQR6,upstream_gene_variant,,ENST00000335852,NM_024897.3;PAQR6,upstream_gene_variant,,ENST00000356983,;PAQR6,upstream_gene_variant,,ENST00000292291,NM_198406.2,NM_001272111.1,NM_001272104.1,NM_001272107.1,NM_001272110.1;PAQR6,upstream_gene_variant,,ENST00000340183,NM_001272109.1;PAQR6,upstream_gene_variant,,ENST00000368270,;PAQR6,upstream_gene_variant,,ENST00000540423,NM_001272105.1;PAQR6,upstream_gene_variant,,ENST00000492619,;PAQR6,upstream_gene_variant,,ENST00000468632,;PAQR6,upstream_gene_variant,,ENST00000491107,;PAQR6,upstream_gene_variant,,ENST00000470198,;PAQR6,upstream_gene_variant,,ENST00000480773,;PAQR6,upstream_gene_variant,,ENST00000475507,;SMG5,non_coding_transcript_exon_variant,,ENST00000476954,;SMG5,downstream_gene_variant,,ENST00000473643,;SMG5,downstream_gene_variant,,ENST00000468993,;							LOW	2910/3051		SMG5_HUMAN			Transcript			.	ENSP00000355261		CCDS1137.1			1	
LPGAT1	0	LGGM	GRCh37	1	211956614	211956614	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	38	22	.	.	ENST00000366997.4:c.684A>G	p.Gln228=	p.Q228=	ENST00000366997	NM_014873.2	228	caA/caG	0	1		UPI0000139467	0		ENST00000366996		ENSG00000123684	28985		60			HGNC	p.Q228Q		LPGAT1		SNV							ENST00000366996	protein_coding			hmmpanther:PTHR10983:SF2,hmmpanther:PTHR10983		Q		C		1500/2035				Q53YL2_HUMAN				LPGAT1,synonymous_variant,p.=,ENST00000366997,NM_014873.2;LPGAT1,synonymous_variant,p.=,ENST00000366996,;LPGAT1,intron_variant,,ENST00000498690,;							LOW	684/1113		LGAT1_HUMAN			Transcript			.	ENSP00000355963		CCDS31018.1			1	
LAMB3	0	LGGM	GRCh37	1	209807795	209807795	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	18	23	.	.	ENST00000391911.1:c.561G>C	p.Gly187=	p.G187=	ENST00000391911	NM_001017402.1	187	ggG/ggC	0	1		UPI000012E76F	0		ENST00000356082		ENSG00000196878	6490		41			HGNC	p.G187G		LAMB3		SNV			1				ENST00000415782	protein_coding			Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245,SMART_domains:SM00136		G		G		696/4055				Q5THA1_HUMAN				LAMB3,synonymous_variant,p.=,ENST00000391911,NM_001017402.1;LAMB3,synonymous_variant,p.=,ENST00000356082,NM_000228.2;LAMB3,synonymous_variant,p.=,ENST00000367030,NM_001127641.1;LAMB3,synonymous_variant,p.=,ENST00000415782,;							LOW	561/3519		LAMB3_HUMAN			Transcript			.	ENSP00000348384		CCDS1487.1			1	
LRRC6	0	LGGM	GRCh37	8	133584642	133584642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	90	25	.	.	ENST00000250173.1:c.1313C>A	p.Thr438Lys	p.T438K	ENST00000250173		438	aCa/aAa	0	1		UPI000000DBC5	0	NA	ENST00000519595		ENSG00000129295	16725		115	0.895		HGNC	p.T178K		LRRC6		SNV			1				ENST00000522789	protein_coding	getma.org/?cm=var&var=hg19,8,133584642,G,T&fts=all		hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF114		T/K		T	low	1412/1734		getma.org/?cm=msa&ty=f&p=TILB_HUMAN&rb=401&re=466&var=T438K	tolerated(0.95)					LRRC6,missense_variant,p.Thr438Lys,ENST00000519595,NM_012472.4;LRRC6,missense_variant,p.Thr438Lys,ENST00000250173,;LRRC6,missense_variant,p.Thr178Lys,ENST00000522789,;LRRC6,3_prime_UTR_variant,,ENST00000518642,;LRRC6,downstream_gene_variant,,ENST00000522597,;							MODERATE	1313/1401	T438K	TILB_HUMAN			Transcript		benign(0.001)	.	ENSP00000429791					1	
AMY2B	0	LGGM	GRCh37	1	104116972	104116972	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	96	26	.	.	ENST00000361355.4:c.835A>G	p.Thr279Ala	p.T279A	ENST00000361355	NM_020978.4	279	Aca/Gca	0	1	1	UPI0000000CB1	0	getma.org/pdb.php?prot=AMY2B_HUMAN&from=36&to=351&var=T279A	ENST00000361355		ENSG00000240038	478		122	1.305		HGNC	p.T279A		AMY2B		SNV							ENST00000361355	protein_coding	getma.org/?cm=var&var=hg19,1,104116972,A,G&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,SMART_domains:SM00642,Superfamily_domains:SSF51445		T/A		G	low	1451/2181		getma.org/?cm=msa&ty=f&p=AMY2B_HUMAN&rb=36&re=351&var=T279A	tolerated(0.62)	C9JWK7_HUMAN,C9J2Z5_HUMAN			YES	AMY2B,missense_variant,p.Thr279Ala,ENST00000361355,NM_020978.4;AMY2B,downstream_gene_variant,,ENST00000453959,;AMY2B,downstream_gene_variant,,ENST00000435302,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,upstream_gene_variant,,ENST00000481821,;AMY2B,upstream_gene_variant,,ENST00000462971,;AMY2B,missense_variant,p.Thr279Ala,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,;							MODERATE	835/1536	T279A	AMY2B_HUMAN			Transcript		benign(0.009)	.	ENSP00000354610		CCDS782.1			1	
KIF16B	0	LGGM	GRCh37	20	16360488	16360488	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	42	27	.	.	ENST00000408042.1:c.2159A>T	p.Lys720Met	p.K720M	ENST00000408042	NM_001199866.1	720	aAg/aTg	0	1		UPI0000206A5A	0	NA	ENST00000354981		ENSG00000089177	15869		69	1.79		HGNC	p.K720M		KIF16B		SNV							ENST00000355755	protein_coding	getma.org/?cm=var&var=hg19,20,16360488,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400		K/M		A	low	2317/5261		getma.org/?cm=msa&ty=f&p=KI16B_HUMAN&rb=591&re=799&var=K720M	deleterious(0.01)					KIF16B,missense_variant,p.Lys720Met,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,missense_variant,p.Lys720Met,ENST00000355755,;KIF16B,missense_variant,p.Lys720Met,ENST00000408042,NM_001199866.1;KIF16B,missense_variant,p.Lys155Met,ENST00000450176,;KIF16B,5_prime_UTR_variant,,ENST00000378003,;							MODERATE	2159/3954	K720M	KI16B_HUMAN			Transcript		benign(0.372)	.	ENSP00000347076		CCDS13122.1			1	
SDK2	0	LGGM	GRCh37	17	71412074	71412074	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	32	28	.	.	ENST00000392650.3:c.2244T>C	p.Asp748=	p.D748=	ENST00000392650	NM_001144952.1	748	gaT/gaC	0	1	1	UPI0000E5A088	0		ENST00000392650		ENSG00000069188	19308		60			HGNC	p.D748D		SDK2		SNV							ENST00000388726	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		D		G		2245/10723							YES	SDK2,synonymous_variant,p.=,ENST00000392650,NM_001144952.1;SDK2,synonymous_variant,p.=,ENST00000388726,;SDK2,upstream_gene_variant,,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;							LOW	2244/6519		SDK2_HUMAN			Transcript			.	ENSP00000376421		CCDS45769.1			1	
TRRAP	0	LGGM	GRCh37	7	98495485	98495485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	24	29	.	.	ENST00000359863.4:c.629G>T	p.Arg210Leu	p.R210L	ENST00000359863	NM_001244580.1	210	cGa/cTa	0	1	1	UPI00004575B4	0	NA	ENST00000359863		ENSG00000196367	12347		53	-0.345		HGNC	p.R210L	rs782299041	TRRAP	6.06E-05	SNV							ENST00000359863	protein_coding	getma.org/?cm=var&var=hg19,7,98495485,G,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1		R/L		T	neutral	838/12677		getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=201&re=400&var=R210L		C9K0N1_HUMAN			YES	TRRAP,missense_variant,p.Arg210Leu,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Arg210Leu,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Arg210Leu,ENST00000446306,;TRRAP,upstream_gene_variant,,ENST00000456197,;							MODERATE	629/11580	R210L	TRRAP_HUMAN			Transcript		benign(0.25)	.	ENSP00000352925	8.24E-06	CCDS59066.1			1	
SYT1	0	LGGM	GRCh37	12	79747321	79747321	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	27	33	.	.	ENST00000261205.4:c.850G>A	p.Val284Ile	p.V284I	ENST00000261205	NM_005639.2	284	Gta/Ata	0	1	1	UPI000013669A	0	getma.org/pdb.php?prot=SYT1_HUMAN&from=246&to=289&var=V284I	ENST00000261205		ENSG00000067715	11509		60	3.105		HGNC	p.V284I	COSM468942	SYT1		SNV						1	ENST00000393240	protein_coding	getma.org/?cm=var&var=hg19,12,79747321,G,A&fts=all		Prints_domain:PR00399,Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF183,hmmpanther:PTHR10024		V/I		A	medium	1507/4808		getma.org/?cm=msa&ty=f&p=SYT1_HUMAN&rb=246&re=289&var=V284I	deleterious(0.04)	F8W1U9_HUMAN,F8VZY3_HUMAN,F8VYH8_HUMAN,F8VP93_HUMAN,C9JX50_HUMAN			YES	SYT1,missense_variant,p.Val284Ile,ENST00000261205,NM_005639.2;SYT1,missense_variant,p.Val281Ile,ENST00000457153,;SYT1,missense_variant,p.Val284Ile,ENST00000393240,NM_001135805.1;SYT1,missense_variant,p.Val284Ile,ENST00000552744,NM_001135806.1;SYT1,incomplete_terminal_codon_variant,p.=,ENST00000549559,;RP1-78O14.1,intron_variant,,ENST00000549527,;					1		MODERATE	850/1269	V284I	SYT1_HUMAN			Transcript		benign(0.32)	.	ENSP00000261205		CCDS9017.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64617563	64617563	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060303	H060303N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	10	33	.	.	ENST00000498707.1:c.2214G>T	p.Arg738=	p.R738=	ENST00000498707	NM_182920.1	738	cgG/cgT	0	1	1	UPI00000463F0	0		ENST00000498707		ENSG00000163638	13202		43			HGNC	p.R710R		ADAMTS9		SNV							ENST00000295903	protein_coding			hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Prints_domain:PR01857		R		A		2557/7464				B4E0E4_HUMAN			YES	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;							LOW	2214/5808		ATS9_HUMAN			Transcript			.	ENSP00000418735		CCDS2903.1			1	
HDLBP	0	LGGM	GRCh37	2	242179457	242179457	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	22	35	.	.	ENST00000391975.1:c.2250T>C	p.Ile750=	p.I750=	ENST00000391975	NM_203346.3	750	atT/atC	0	1	1	UPI00001AEF85	0		ENST00000391975		ENSG00000115677	4857		57			HGNC	p.I750I		HDLBP		SNV							ENST00000310931	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		I		G		2478/6372				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			YES	HDLBP,synonymous_variant,p.=,ENST00000391975,NM_203346.3;HDLBP,synonymous_variant,p.=,ENST00000310931,NM_005336.4;HDLBP,synonymous_variant,p.=,ENST00000391976,;HDLBP,synonymous_variant,p.=,ENST00000427183,NM_001243900.1;HDLBP,synonymous_variant,p.=,ENST00000373292,;HDLBP,synonymous_variant,p.=,ENST00000427487,;HDLBP,synonymous_variant,p.=,ENST00000452931,;HDLBP,non_coding_transcript_exon_variant,,ENST00000471294,;HDLBP,upstream_gene_variant,,ENST00000470482,;HDLBP,upstream_gene_variant,,ENST00000483086,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000459788,;HDLBP,upstream_gene_variant,,ENST00000479894,;							LOW	2250/3807		VIGLN_HUMAN			Transcript			.	ENSP00000375836		CCDS2547.1			1	
DLC1	0	LGGM	GRCh37	8	13356978	13356978	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	15	37	.	.	ENST00000276297.4:c.603A>C	p.Glu201Asp	p.E201D	ENST00000276297	NM_182643.2	201	gaA/gaC	0	1	1	UPI0000210275	0	NA	ENST00000276297		ENSG00000164741	2897		52	1.7		HGNC	p.E201D		DLC1		SNV							ENST00000511869	protein_coding	getma.org/?cm=var&var=hg19,8,13356978,T,G&fts=all				E/D		G	low	1013/7447		getma.org/?cm=msa&ty=f&p=RHG07_HUMAN&rb=1&re=447&var=E201D	tolerated_low_confidence(0.09)				YES	DLC1,missense_variant,p.Glu201Asp,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Glu201Asp,ENST00000511869,NM_024767.3;DLC1,missense_variant,p.Glu201Asp,ENST00000316609,;DLC1,upstream_gene_variant,,ENST00000517868,;DLC1,downstream_gene_variant,,ENST00000517333,;							MODERATE	603/4587	E201D	RHG07_HUMAN			Transcript		benign(0.062)	.	ENSP00000276297		CCDS5989.1			1	
MYH1	0	LGGM	GRCh37	17	10419295	10419295	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	18	42	.	.	ENST00000226207.5:c.453C>T	p.Ala151=	p.A151=	ENST00000226207	NM_005963.3	151	gcC/gcT	0	1	1	UPI000013C891	0		ENST00000226207		ENSG00000109061	7567		60			HGNC	p.A151A	rs759697007	MYH1		SNV							ENST00000226207	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,SMART_domains:SM00242,Superfamily_domains:SSF52540		A		A		548/6024	1.50E-05						YES	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,;							LOW	453/5820		MYH1_HUMAN			Transcript			.	ENSP00000226207	8.24E-06	CCDS11155.1			1	
TUBB3	0	LGGM	GRCh37	16	89999947	89999947	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	12	44	.	.	ENST00000315491.7:c.238G>A	p.Ala80Thr	p.A80T	ENST00000315491	NM_006086.3	80	Gcc/Acc	0	1	1	UPI00001369F9	0	getma.org/pdb.php?prot=TBB3_HUMAN&from=3&to=224&var=A80T	ENST00000315491		ENSG00000258947	20772		56	-0.885		Uniprot_gn	p.A80T		TUBB3		SNV			1				ENST00000553967	protein_coding	getma.org/?cm=var&var=hg19,16,89999947,G,A&fts=all		hmmpanther:PTHR11588:SF43,hmmpanther:PTHR11588,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490		A/T		A	neutral	361/1769		getma.org/?cm=msa&ty=f&p=TBB3_HUMAN&rb=3&re=224&var=A80T	deleterious_low_confidence(0.05)	Q9BV28_HUMAN,Q3ZCR3_HUMAN,G3V542_HUMAN,G3V3J6_HUMAN,G3V2A3_HUMAN,A8K854_HUMAN			YES	TUBB3,missense_variant,p.Ala8Thr,ENST00000304984,;TUBB3,missense_variant,p.Ala427Thr,ENST00000556922,;TUBB3,missense_variant,p.Ala8Thr,ENST00000554444,NM_001197181.1;TUBB3,missense_variant,p.Ala80Thr,ENST00000315491,NM_006086.3;TUBB3,missense_variant,p.Ala80Thr,ENST00000554336,;TUBB3,missense_variant,p.Ala8Thr,ENST00000555810,;TUBB3,missense_variant,p.Ala80Thr,ENST00000553967,;TUBB3,missense_variant,p.Ala80Thr,ENST00000555576,;TUBB3,missense_variant,p.Ala8Thr,ENST00000556565,;TUBB3,downstream_gene_variant,,ENST00000554116,;TUBB3,missense_variant,p.Ala80Thr,ENST00000556536,;TUBB3,3_prime_UTR_variant,,ENST00000555609,;TUBB3,3_prime_UTR_variant,,ENST00000557262,;TUBB3,3_prime_UTR_variant,,ENST00000557490,;TUBB3,3_prime_UTR_variant,,ENST00000553656,;TUBB3,downstream_gene_variant,,ENST00000554927,;							MODERATE	238/1353	A80T	TBB3_HUMAN			Transcript		benign(0.01)	.	ENSP00000320295		CCDS10988.1			1	
OR4Q3	0	LGGM	GRCh37	14	20215689	20215689	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060303	H060303N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	56	46	.	.	ENST00000331723.1:c.103T>C	p.Tyr35His	p.Y35H	ENST00000331723	NM_172194.1	35	Tac/Cac	0	1	1	UPI0000061EF0	0	getma.org/pdb.php?prot=OR4Q3_HUMAN&from=1&to=139&var=Y35H	ENST00000331723		ENSG00000182652	15426		102	3.51		HGNC	p.Y35H	rs534264696	OR4Q3	0.000545	SNV							ENST00000331723	protein_coding	getma.org/?cm=var&var=hg19,14,20215689,T,C&fts=all	C:0	Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		Y/H		C	high	103/942		getma.org/?cm=msa&ty=f&p=OR4Q3_HUMAN&rb=1&re=139&var=Y35H	deleterious(0.02)		C:0	C:0	YES	OR4Q3,missense_variant,p.Tyr35His,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;	0.000116	C:0.0004					MODERATE	103/942	Y35H	OR4Q3_HUMAN		C:0	Transcript		possibly_damaging(0.897)	common_variant	ENSP00000330049	8.24E-05	CCDS32020.1		C:0.002	1	
CMYA5	0	LGGM	GRCh37	5	79034098	79034098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	69	46	.	.	ENST00000446378.2:c.9510A>G	p.Ile3170Met	p.I3170M	ENST00000446378	NM_153610.3	3170	atA/atG	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		115	2.14		HGNC	p.I3170M		CMYA5		SNV							ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79034098,A,G&fts=all		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7		I/M		G	medium	9541/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=3001&re=3200&var=I3170M					YES	CMYA5,missense_variant,p.Ile3170Met,ENST00000446378,NM_153610.3;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;							MODERATE	9510/12210	I3170M	CMYA5_HUMAN			Transcript		benign(0.418)	.	ENSP00000394770		CCDS47238.1			1	
FER1L6	0	LGGM	GRCh37	8	124998383	124998383	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	41	48	.	.	ENST00000522917.1:c.1486G>T	p.Gly496Ter	p.G496*	ENST00000522917	NM_001039112.2	496	Gga/Tga	0	1		UPI0000E9B4AA	0	NA	ENST00000399018		ENSG00000214814	28065		89	0		HGNC	p.G496X		FER1L6		SNV							ENST00000399018	protein_coding	getma.org/?cm=var&var=hg19,8,124998383,G,T&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37		G/*		T	NA	1500/5859		NA						FER1L6,stop_gained,p.Gly496Ter,ENST00000522917,NM_001039112.2;FER1L6,stop_gained,p.Gly496Ter,ENST00000399018,;FER1L6-AS1,intron_variant,,ENST00000518567,;							HIGH	1486/5574	G496*	FR1L6_HUMAN			Transcript			.	ENSP00000381982		CCDS43767.1			1	
CTNND2	0	LGGM	GRCh37	5	11111113	11111113	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060303	H060303N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	52	51	.	.	ENST00000304623.8:c.2320C>T	p.Arg774Trp	p.R774W	ENST00000304623	NM_001332.2	774	Cgg/Tgg	0	1	1	UPI000013E9AB	0	getma.org/pdb.php?prot=CTND2_HUMAN&from=667&to=833&var=R774W	ENST00000304623		ENSG00000169862	2516		103	2.65		HGNC	p.R683W		CTNND2		SNV			1				ENST00000511377	protein_coding	getma.org/?cm=var&var=hg19,5,11111113,G,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,Superfamily_domains:SSF48371		R/W		A	medium	2510/5481		getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=667&re=833&var=R774W	deleterious(0)	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN			YES	CTNND2,missense_variant,p.Arg774Trp,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Arg774Trp,ENST00000359640,;CTNND2,missense_variant,p.Arg683Trp,ENST00000511377,;CTNND2,missense_variant,p.Arg341Trp,ENST00000458100,;CTNND2,missense_variant,p.Arg437Trp,ENST00000503622,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Arg528Trp,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;							MODERATE	2320/3678	R774W	CTND2_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000307134		CCDS3881.1			1	
SARM1	0	LGGM	GRCh37	17	26715461	26715461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060303	H060303N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060303N.bam, H060303T.bam	Illumina HiSeq	47	66	.	.	ENST00000457710.3:c.1724A>G	p.Gln575Arg	p.Q575R	ENST00000457710	NM_015077.3	575	cAg/cGg	0	1	1	UPI0000042801	0		ENST00000457710		ENSG00000004139	17074		113			HGNC	p.Q575R		SARM1		SNV							ENST00000457710	protein_coding			Superfamily_domains:SSF52200,SMART_domains:SM00255,Pfam_domain:PF13676,Gene3D:3.40.50.10140,hmmpanther:PTHR22998		Q/R		G		2195/7304			tolerated(0.08)				YES	SARM1,missense_variant,p.Gln575Arg,ENST00000457710,NM_015077.3;SARM1,missense_variant,p.Gln34Arg,ENST00000579593,;SARM1,missense_variant,p.Gln142Arg,ENST00000578128,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;SARM1,non_coding_transcript_exon_variant,,ENST00000003834,;SARM1,non_coding_transcript_exon_variant,,ENST00000577870,;SARM1,non_coding_transcript_exon_variant,,ENST00000580711,;SARM1,downstream_gene_variant,,ENST00000582323,;							MODERATE	1724/2073					Transcript		benign(0.015)	.	ENSP00000406738					1	
EP400	0	LGGM	GRCh37	12	132446025	132446025	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	4	2	.	.	ENST00000389561.2:c.861G>T	p.Pro287=	p.P287=	ENST00000389561	NM_015409.4	287	ccG/ccT	0	1	1	UPI00004566BC	0		ENST00000389561		ENSG00000183495	11958		6			HGNC	p.P287P		EP400		SNV							ENST00000541296	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		P		T		970/12268							YES	EP400,synonymous_variant,p.=,ENST00000333577,;EP400,synonymous_variant,p.=,ENST00000389561,NM_015409.4;EP400,synonymous_variant,p.=,ENST00000389562,;EP400,synonymous_variant,p.=,ENST00000332482,;EP400,synonymous_variant,p.=,ENST00000330386,;							LOW	861/9372		EP400_HUMAN			Transcript			.	ENSP00000374212		CCDS31929.2			1	
TP53	0	LGGM	GRCh37	17	7577548	7577548	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	9	2	.	.	ENST00000269305.4:c.733G>A	p.Gly245Ser	p.G245S	ENST00000269305	NM_001126112.2	245	Ggc/Agc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G245S	ENST00000269305	likely_pathogenic,pathogenic	ENSG00000141510	11998		11	2.705		HGNC	p.G245S	rs28934575,TP53_g.13370G>A,COSM6932,COSM121035,COSM121036,COSM3356965,COSM1640833,COSM121037	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7577548,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		G/S		T	medium	923/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G245S	deleterious(0)	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			YES	TP53,missense_variant,p.Gly245Ser,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly245Ser,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly245Ser,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly245Ser,ENST00000445888,;TP53,missense_variant,p.Gly245Ser,ENST00000359597,;TP53,missense_variant,p.Gly245Ser,ENST00000413465,;TP53,missense_variant,p.Gly113Ser,ENST00000509690,;TP53,missense_variant,p.Gly152Ser,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,;					0,0,1,1,1,1,1,1		MODERATE	733/1182	G245S	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	250,327,002,510,566,000,000,000
ITGA5	0	LGGM	GRCh37	12	54802539	54802539	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	18	3	.	.	ENST00000293379.4:c.691+1G>T		p.X231_splice	ENST00000293379	NM_002205.2			0	1	1	UPI000012D9F3	0		ENST00000293379		ENSG00000161638	6141		21			HGNC	-		ITGA5		SNV							ENST00000293379	protein_coding							A		-/4444							YES	ITGA5,splice_donor_variant,,ENST00000293379,NM_002205.2;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;ITGA5,downstream_gene_variant,,ENST00000547744,;ITGA5,splice_donor_variant,,ENST00000435631,;ITGA5,splice_donor_variant,,ENST00000553071,;ITGA5,upstream_gene_variant,,ENST00000552564,;ITGA5,upstream_gene_variant,,ENST00000550141,;ITGA5,upstream_gene_variant,,ENST00000551861,;							HIGH	691/3150		ITA5_HUMAN			Transcript			.	ENSP00000293379		CCDS8880.1			1	
FUT9	0	LGGM	GRCh37	6	96651340	96651340	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	29	3	.	.	ENST00000302103.5:c.309C>T	p.Ser103=	p.S103=	ENST00000302103	NM_006581.3	103	tcC/tcT	0	1	1	UPI000013E792	0		ENST00000302103		ENSG00000172461	4020		32			HGNC	p.S103S	rs754330739	FUT9		SNV							ENST00000302103	protein_coding			hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756		S		T		635/12783	1.52E-05						YES	FUT9,synonymous_variant,p.=,ENST00000302103,NM_006581.3;							LOW	309/1080		FUT9_HUMAN			Transcript			.	ENSP00000302599	8.24E-06	CCDS5033.1			1	
ITGA6	0	LGGM	GRCh37	2	173292590	173292590	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	13	3	.	.	ENST00000409080.1:c.74A>T	p.Asn25Ile	p.N25I	ENST00000409080	NM_001079818.1	25	aAc/aTc	0	1		UPI000013D4BA	0	getma.org/pdb.php?prot=ITA6_HUMAN&from=1&to=200&var=N25I	ENST00000442250		ENSG00000091409	6142		16	3.265		HGNC	p.N25I		ITGA6		SNV			1				ENST00000458358	protein_coding	getma.org/?cm=var&var=hg19,2,173292590,A,T&fts=all		hmmpanther:PTHR23220:SF9,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318		N/I		T	medium	74/3390		getma.org/?cm=msa&ty=f&p=ITA6_HUMAN&rb=1&re=200&var=N25I	deleterious(0)					ITGA6,missense_variant,p.Asn25Ile,ENST00000375221,;ITGA6,missense_variant,p.Asn25Ile,ENST00000264106,;ITGA6,missense_variant,p.Asn25Ile,ENST00000343713,;ITGA6,missense_variant,p.Asn25Ile,ENST00000264107,NM_000210.2;ITGA6,missense_variant,p.Asn25Ile,ENST00000409080,NM_001079818.1;ITGA6,missense_variant,p.Asn25Ile,ENST00000442250,;ITGA6,missense_variant,p.Asn25Ile,ENST00000458358,;ITGA6,intron_variant,,ENST00000409532,;ITGA6,intron_variant,,ENST00000412899,;AC078883.4,non_coding_transcript_exon_variant,,ENST00000441212,;							MODERATE	74/3390	N25I	ITA6_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000406694					1	
EPYC	0	LGGM	GRCh37	12	91366686	91366686	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	34	3	.	.	ENST00000261172.3:c.412A>T	p.Ile138Phe	p.I138F	ENST00000261172	NM_004950.4	138	Att/Ttt	0	1	1	UPI000013D136	0	NA	ENST00000261172		ENSG00000083782	3053		37	1.915		HGNC	p.I138F		EPYC		SNV							ENST00000261172	protein_coding	getma.org/?cm=var&var=hg19,12,91366686,T,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF01462,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF4,SMART_domains:SM00013,Superfamily_domains:SSF52058		I/F		A	medium	505/1539		getma.org/?cm=msa&ty=f&p=EPYC_HUMAN&rb=98&re=162&var=I138F	deleterious(0)	F8VSI4_HUMAN			YES	EPYC,missense_variant,p.Ile138Phe,ENST00000261172,NM_004950.4;EPYC,missense_variant,p.Ile138Phe,ENST00000551767,;EPYC,non_coding_transcript_exon_variant,,ENST00000550203,;							MODERATE	412/969	I138F	EPYC_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000261172		CCDS31870.1			1	
RCHY1	0	LGGM	GRCh37	4	76434388	76434388	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	18	3	.	.	ENST00000324439.5:c.209A>T	p.His70Leu	p.H70L	ENST00000324439		70	cAt/cTt	0	1	1	UPI000013C366	0	getma.org/pdb.php?prot=ZN363_HUMAN&from=20&to=94&var=H70L	ENST00000324439		ENSG00000163743	17479		21	-0.46		HGNC	p.H70L		RCHY1		SNV							ENST00000513257	protein_coding	getma.org/?cm=var&var=hg19,4,76434388,T,A&fts=all		Superfamily_domains:0053828,Pfam_domain:PF05495,hmmpanther:PTHR21319,PROSITE_profiles:PS51266		H/L		A	neutral	608/4686		getma.org/?cm=msa&ty=f&p=ZN363_HUMAN&rb=20&re=94&var=H70L	tolerated(0.22)	G3FDP5_HUMAN,G3FDP4_HUMAN,D6RAF6_HUMAN			YES	RCHY1,missense_variant,p.His70Leu,ENST00000324439,;RCHY1,missense_variant,p.His70Leu,ENST00000451788,NM_001278538.1,NM_001278536.1,NM_001009922.2,NM_015436.3,NM_001278539.1;RCHY1,missense_variant,p.His48Leu,ENST00000512706,;RCHY1,missense_variant,p.His70Leu,ENST00000513257,;RCHY1,intron_variant,,ENST00000380840,;RCHY1,intron_variant,,ENST00000507014,NM_001278537.1;THAP6,upstream_gene_variant,,ENST00000506261,;RCHY1,splice_region_variant,,ENST00000514021,;RCHY1,missense_variant,p.His70Leu,ENST00000505105,;RCHY1,missense_variant,p.His70Leu,ENST00000504085,;RCHY1,missense_variant,p.His74Leu,ENST00000513909,;RCHY1,splice_region_variant,,ENST00000514589,;RCHY1,splice_region_variant,,ENST00000505514,;RCHY1,splice_region_variant,,ENST00000513083,;							MODERATE	209/786	H70L	ZN363_HUMAN			Transcript		benign(0.043)	.	ENSP00000321239		CCDS3567.1			1	
DNAH5	0	LGGM	GRCh37	5	13727665	13727665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	27	3	.	.	ENST00000265104.4:c.11984G>T	p.Arg3995Ile	p.R3995I	ENST00000265104	NM_001369.2	3995	aGa/aTa	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=3927&to=4622&var=R3995I	ENST00000265104		ENSG00000039139	2950		30	2.335		HGNC	p.R3995I		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13727665,C,A&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		R/I		A	medium	12089/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3927&re=4622&var=R3995I		O95496_HUMAN			YES	DNAH5,missense_variant,p.Arg3995Ile,ENST00000265104,NM_001369.2;							MODERATE	11984/13875	R3995I	DYH5_HUMAN			Transcript		benign(0.034)	.	ENSP00000265104		CCDS3882.1			1	
VEZT	0	LGGM	GRCh37	12	95694049	95694049	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	31	3	.	.	ENST00000436874.1:c.1940A>G	p.Glu647Gly	p.E647G	ENST00000436874	NM_017599.3	647	gAa/gGa	0	1	1	UPI00001FB2EC	0	NA	ENST00000436874		ENSG00000028203	18258		34	1.61		HGNC	p.E647G		VEZT		SNV							ENST00000436874	protein_coding	getma.org/?cm=var&var=hg19,12,95694049,A,G&fts=all		hmmpanther:PTHR15989,hmmpanther:PTHR15989:SF5		E/G		G	low	2045/4562		getma.org/?cm=msa&ty=f&p=VEZA_HUMAN&rb=641&re=779&var=E647G	tolerated(0.19)				YES	VEZT,missense_variant,p.Glu647Gly,ENST00000436874,NM_017599.3;VEZT,missense_variant,p.Glu599Gly,ENST00000261219,;VEZT,missense_variant,p.Glu603Gly,ENST00000397792,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000552306,;VEZT,downstream_gene_variant,,ENST00000551695,;VEZT,downstream_gene_variant,,ENST00000546951,;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,downstream_gene_variant,,ENST00000549192,;							MODERATE	1940/2340	E647G	VEZA_HUMAN			Transcript		benign(0.029)	.	ENSP00000410083		CCDS44954.1			1	
RNF214	0	LGGM	GRCh37	11	117109665	117109665	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	27	3	.	.	ENST00000531452.1:c.456G>C	p.Glu152Asp	p.E152D	ENST00000531452	NM_001077239.1	152	gaG/gaC	0	1		UPI00001D7749	0	NA	ENST00000300650		ENSG00000167257	25335		30	0.41		HGNC	p.E152D		RNF214		SNV							ENST00000531452	protein_coding	getma.org/?cm=var&var=hg19,11,117109665,G,C&fts=all		hmmpanther:PTHR15727		E/D		C	neutral	465/2646		getma.org/?cm=msa&ty=f&p=RN214_HUMAN&rb=1&re=579&var=E152D	tolerated_low_confidence(0.36)	E9PRE9_HUMAN				RNF214,missense_variant,p.Glu152Asp,ENST00000531452,NM_001077239.1;RNF214,missense_variant,p.Glu152Asp,ENST00000300650,NM_207343.3;RNF214,intron_variant,,ENST00000530849,;RNF214,intron_variant,,ENST00000531287,NM_001278249.1;RNF214,downstream_gene_variant,,ENST00000534428,;RNF214,non_coding_transcript_exon_variant,,ENST00000529869,;							MODERATE	456/2112	E152D	RN214_HUMAN			Transcript		benign(0.002)	.	ENSP00000300650		CCDS41720.1			1	
NR1H2	0	LGGM	GRCh37	19	50881849	50881849	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	22	3	.	.	ENST00000253727.5:c.543G>A	p.Ser181=	p.S181=	ENST00000253727	NM_007121.5	181	tcG/tcA	0	1	1	UPI000013CDEE	0		ENST00000253727		ENSG00000131408	7965	8.66E-05	25			HGNC	p.R139H	rs753436982	NR1H2		SNV							ENST00000593532	protein_coding			Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF110,Low_complexity_(Seg):seg		S		A		778/1998				M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN			YES	NR1H2,synonymous_variant,p.=,ENST00000253727,NM_007121.5;NR1H2,synonymous_variant,p.=,ENST00000598168,;NR1H2,synonymous_variant,p.=,ENST00000599105,;NR1H2,synonymous_variant,p.=,ENST00000593926,;NR1H2,synonymous_variant,p.=,ENST00000411902,NM_001256647.1;NR1H2,synonymous_variant,p.=,ENST00000597130,;NR1H2,synonymous_variant,p.=,ENST00000597157,;NR1H2,5_prime_UTR_variant,,ENST00000542413,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,missense_variant,p.Arg139His,ENST00000593532,;NR1H2,upstream_gene_variant,,ENST00000597085,;NR1H2,downstream_gene_variant,,ENST00000595730,;							LOW	543/1383		NR1H2_HUMAN			Transcript			.	ENSP00000253727	8.25E-06	CCDS42593.1			1	
ACAD11	0	LGGM	GRCh37	3	132323987	132323987	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	28	4	.	.	ENST00000264990.6:c.1477G>T	p.Glu493Ter	p.E493*	ENST00000264990	NM_032169.4	493	Gag/Tag	0	1	1	UPI00003671B7	0	NA	ENST00000264990		ENSG00000240303	30211		32	0		HGNC	p.E18X	COSM231006	ACAD11		SNV						1	ENST00000545291	protein_coding	getma.org/?cm=var&var=hg19,3,132323987,C,A&fts=all		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF195,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645		E/*		A	NA	2449/4142		NA		Q08AE9_HUMAN,B4DQ41_HUMAN			YES	ACAD11,stop_gained,p.Glu493Ter,ENST00000264990,NM_032169.4;ACAD11,stop_gained,p.Glu493Ter,ENST00000355458,;ACAD11,stop_gained,p.Glu18Ter,ENST00000545291,;ACKR4,downstream_gene_variant,,ENST00000249887,NM_016557.3,NM_178445.2;ACAD11,non_coding_transcript_exon_variant,,ENST00000507705,;ACAD11,stop_gained,p.Glu51Ter,ENST00000510100,;ACAD11,missense_variant,p.Leu420Phe,ENST00000485198,;NPHP3,3_prime_UTR_variant,,ENST00000471702,;ACAD11,non_coding_transcript_exon_variant,,ENST00000496418,;ACAD11,non_coding_transcript_exon_variant,,ENST00000469042,;ACAD11,non_coding_transcript_exon_variant,,ENST00000487024,;ACAD11,non_coding_transcript_exon_variant,,ENST00000477604,;ACKR4,intron_variant,,ENST00000509820,;					1		HIGH	1477/2343	E493*	ACD11_HUMAN			Transcript			.	ENSP00000264990		CCDS3074.1			1	
RALGAPA2	0	LGGM	GRCh37	20	20571922	20571922	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	34	4	.	.	ENST00000202677.7:c.2240C>T	p.Ala747Val	p.A747V	ENST00000202677	NM_020343.3	747	gCa/gTa	0	1	1	UPI000040F987	0	NA	ENST00000202677		ENSG00000188559	16207		38	1.245		HGNC	p.A747V		RALGAPA2		SNV							ENST00000202677	protein_coding	getma.org/?cm=var&var=hg19,20,20571922,G,A&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2		A/V		A	low	2248/6152		getma.org/?cm=msa&ty=f&p=RGPA2_HUMAN&rb=601&re=800&var=A747V	tolerated(0.35)				YES	RALGAPA2,missense_variant,p.Ala564Val,ENST00000430436,;RALGAPA2,missense_variant,p.Ala747Val,ENST00000202677,NM_020343.3;							MODERATE	2240/5622	A747V	RGPA2_HUMAN			Transcript		benign(0.001)	.	ENSP00000202677		CCDS46584.1			1	
SEMA5A	0	LGGM	GRCh37	5	9043043	9043043	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	26	4	.	.	ENST00000382496.5:c.3191A>G	p.Tyr1064Cys	p.Y1064C	ENST00000382496	NM_003966.2	1064	tAc/tGc	0	1	1	UPI000004F25D	0	NA	ENST00000382496		ENSG00000112902	10736		30	1.04		HGNC	p.Y1064C	COSM1071194	SEMA5A		SNV			1			1	ENST00000382496	protein_coding	getma.org/?cm=var&var=hg19,5,9043043,T,C&fts=all		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78		Y/C		C	low	3857/11762		getma.org/?cm=msa&ty=f&p=SEM5A_HUMAN&rb=967&re=1072&var=Y1064C	deleterious(0)	D6RAF4_HUMAN,B4DE33_HUMAN			YES	SEMA5A,missense_variant,p.Tyr1064Cys,ENST00000382496,NM_003966.2;CTD-2215L10.1,intron_variant,,ENST00000506519,;					1		MODERATE	3191/3225	Y1064C	SEM5A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000371936		CCDS3875.1			1	
LILRB2	0	LGGM	GRCh37	19	54782726	54782726	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	21	4	.	.	ENST00000391749.4:c.896C>T	p.Ala299Val	p.A299V	ENST00000391749	NM_001278406.1	299	gCa/gTa	0	1	1	UPI00000707E4	0	getma.org/pdb.php?prot=LIRB2_HUMAN&from=224&to=317&var=A299V	ENST00000391749		ENSG00000131042	6606		25	2.29		HGNC	p.A299V		LILRB2		SNV							ENST00000391749	protein_coding	getma.org/?cm=var&var=hg19,19,54782726,G,A&fts=all		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		A/V		A	medium	1168/2286		getma.org/?cm=msa&ty=f&p=LIRB2_HUMAN&rb=224&re=317&var=A299V	deleterious(0)	C9JF29_HUMAN			YES	LILRB2,missense_variant,p.Ala299Val,ENST00000391748,NM_001278403.1;LILRB2,missense_variant,p.Ala299Val,ENST00000314446,NM_001080978.2,NM_005874.3;LILRB2,missense_variant,p.Ala299Val,ENST00000391749,NM_001278406.1;LILRB2,missense_variant,p.Ala183Val,ENST00000434421,NM_001278404.1;LILRB2,missense_variant,p.Ala299Val,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,;							MODERATE	896/1797	A299V	LIRB2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000375629		CCDS12886.1			1	
KIF21A	0	LGGM	GRCh37	12	39751214	39751214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	28	4	.	.	ENST00000361418.5:c.1241G>T	p.Gly414Val	p.G414V	ENST00000361418		414	gGt/gTt	0	1	1	UPI0000212ED9	0	NA	ENST00000361418		ENSG00000139116	19349		32	2.625		HGNC	p.G414V		KIF21A		SNV			1				ENST00000541463	protein_coding	getma.org/?cm=var&var=hg19,12,39751214,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398		G/V		A	medium	1257/5044		getma.org/?cm=msa&ty=f&p=KI21A_HUMAN&rb=372&re=475&var=G414V	deleterious(0)				YES	KIF21A,missense_variant,p.Gly414Val,ENST00000395670,;KIF21A,missense_variant,p.Gly414Val,ENST00000361961,NM_017641.3,NM_001173464.1;KIF21A,missense_variant,p.Gly414Val,ENST00000361418,;KIF21A,missense_variant,p.Gly414Val,ENST00000544797,NM_001173463.1;KIF21A,missense_variant,p.Gly414Val,ENST00000541463,NM_001173465.1;KIF21A,missense_variant,p.Gly237Val,ENST00000552908,;KIF21A,upstream_gene_variant,,ENST00000550429,;							MODERATE	1241/5025	G414V	KI21A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354878		CCDS53776.1			1	
LTN1	0	LGGM	GRCh37	21	30303603	30303603	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	29	4	.	.	ENST00000389194.2:c.5250C>T	p.Asn1750=	p.N1750=	ENST00000389194	NM_015565.2	1750	aaC/aaT	0	1		UPI00001A95E0	0		ENST00000361371		ENSG00000198862	13082		33			HGNC	p.N1704N	COSM1029729	LTN1		SNV						1	ENST00000361371	protein_coding			hmmpanther:PTHR12389		N		A		5192/7685				G1UI34_HUMAN				LTN1,synonymous_variant,p.=,ENST00000389194,NM_015565.2;LTN1,synonymous_variant,p.=,ENST00000361371,;					1		LOW	5112/5301		LTN1_HUMAN			Transcript			.	ENSP00000354977					1	
OR10D3	0	LGGM	GRCh37	11	124056657	124056657	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	30	4	.	.	ENST00000318666.6:c.681C>T	p.Ser227=	p.S227=	ENST00000318666		227	agC/agT	0	1	1	UPI000004B22A	0		ENST00000318666		ENSG00000197309	8168		34			HGNC	p.S227S		OR10D3		SNV							ENST00000318666	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF221,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321		S		T		735/1030							YES	OR10D3,synonymous_variant,p.=,ENST00000318666,;							LOW	681/939		O10D3_HUMAN			Transcript			.	ENSP00000323895					1	
PKD2L2	0	LGGM	GRCh37	5	137242085	137242085	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	31	5	.	.	ENST00000290431.5:c.937A>T	p.Lys313Ter	p.K313*	ENST00000290431	NM_014386.3	313	Aaa/Taa	0	1		UPI000013C93B	0	NA	ENST00000508883		ENSG00000078795	9012		36	0		HGNC	p.K313X		PKD2L2		SNV							ENST00000508883	protein_coding	getma.org/?cm=var&var=hg19,5,137242085,A,T&fts=all		Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47		K/*		T	NA	963/2282		NA		D6RF71_HUMAN,D6RBX8_HUMAN				PKD2L2,stop_gained,p.Lys313Ter,ENST00000508638,NM_001258449.1;PKD2L2,stop_gained,p.Lys313Ter,ENST00000508883,;PKD2L2,stop_gained,p.Lys313Ter,ENST00000290431,NM_014386.3;PKD2L2,stop_gained,p.Lys313Ter,ENST00000502810,NM_001258448.1;PKD2L2,stop_gained,p.Lys279Ter,ENST00000350250,;PKD2L2,downstream_gene_variant,,ENST00000503015,;PKD2L2,3_prime_UTR_variant,,ENST00000414094,;							HIGH	937/1875	K313*	PK2L2_HUMAN			Transcript			.	ENSP00000424725					1	
BIRC2	0	LGGM	GRCh37	11	102221234	102221234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	63	5	.	.	ENST00000227758.2:c.649A>T	p.Arg217Trp	p.R217W	ENST00000227758	NM_001166.4	217	Agg/Tgg	0	1	1	UPI00000015E7	0	getma.org/pdb.php?prot=BIRC2_HUMAN&from=187&to=251&var=R217W	ENST00000227758		ENSG00000110330	590		68	3.11		HGNC	p.R177W		BIRC2		SNV							ENST00000528344	protein_coding	getma.org/?cm=var&var=hg19,11,102221234,A,T&fts=all		Gene3D:1.10.1170.10,Pfam_domain:PF00653,PROSITE_patterns:PS01282,PROSITE_profiles:PS50143,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF79,SMART_domains:SM00238,Superfamily_domains:SSF57924		R/W		T	medium	2048/3743		getma.org/?cm=msa&ty=f&p=BIRC2_HUMAN&rb=187&re=251&var=R217W	deleterious(0)	E9PNM6_HUMAN,E9PMH5_HUMAN,E9PIW1_HUMAN,E9PI77_HUMAN			YES	BIRC2,missense_variant,p.Arg217Trp,ENST00000227758,NM_001166.4,NM_001256163.1;BIRC2,missense_variant,p.Arg196Trp,ENST00000532672,;BIRC2,missense_variant,p.Arg168Trp,ENST00000530675,NM_001256166.1;BIRC2,missense_variant,p.Arg59Trp,ENST00000532832,;BIRC2,intron_variant,,ENST00000533742,;BIRC2,intron_variant,,ENST00000531259,;BIRC2,downstream_gene_variant,,ENST00000527465,;BIRC2,non_coding_transcript_exon_variant,,ENST00000527910,;BIRC2,downstream_gene_variant,,ENST00000527808,;BIRC2,downstream_gene_variant,,ENST00000534646,;BIRC2,missense_variant,p.Arg177Trp,ENST00000528344,;							MODERATE	649/1857	R217W	BIRC2_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000227758		CCDS8316.1			1	
PPM1G	0	LGGM	GRCh37	2	27607908	27607908	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	40	5	.	.	ENST00000344034.4:c.457A>G	p.Ile153Val	p.I153V	ENST00000344034	NM_177983.2	153	Att/Gtt	0	1	1	UPI000000106E	0	NA	ENST00000344034		ENSG00000115241	9278	8.66E-05	45	2.135		HGNC	p.I153V	rs747865877	PPM1G		SNV							ENST00000344034	protein_coding	getma.org/?cm=var&var=hg19,2,27607908,T,C&fts=all		hmmpanther:PTHR13832,SMART_domains:SM00332		I/V		C	medium	722/2311		getma.org/?cm=msa&ty=f&p=PPM1G_HUMAN&rb=120&re=263&var=I153V	tolerated(0.12)	Q96IN7_HUMAN,Q6IAU5_HUMAN,B4DDC8_HUMAN			YES	PPM1G,missense_variant,p.Ile153Val,ENST00000344034,NM_177983.2;PPM1G,missense_variant,p.Ile153Val,ENST00000350803,;ZNF513,upstream_gene_variant,,ENST00000323703,NM_144631.5;ZNF513,upstream_gene_variant,,ENST00000407879,NM_001201459.1;ZNF513,upstream_gene_variant,,ENST00000436006,;PPM1G,non_coding_transcript_exon_variant,,ENST00000472077,;PPM1G,downstream_gene_variant,,ENST00000484925,;							MODERATE	457/1641	I153V	PPM1G_HUMAN			Transcript		benign(0.031)	.	ENSP00000342778	8.24E-06	CCDS1752.1			1	
SYT6	0	LGGM	GRCh37	1	114682479	114682479	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	34	5	.	.	ENST00000609117.1:c.15C>A	p.Asn5Lys	p.N5K	ENST00000609117		5	aaC/aaA	0	1		UPI0000D61F91	0	NA	ENST00000610222		ENSG00000134207	18638		39	0.895		HGNC	p.N5K	rs760843790	SYT6	9.42E-05	SNV							ENST00000369546	protein_coding	getma.org/?cm=var&var=hg19,1,114682479,G,T&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF45		N/K		T	low	417/1707	1.59E-05	getma.org/?cm=msa&ty=f&p=SYT6_HUMAN&rb=57&re=90&var=N90K	deleterious(0.04)	I6L9C3_HUMAN,B1AMB7_HUMAN,B1AMB6_HUMAN				SYT6,missense_variant,p.Asn90Lys,ENST00000393296,;SYT6,missense_variant,p.Asn5Lys,ENST00000609117,;SYT6,missense_variant,p.Asn5Lys,ENST00000369547,NM_001270805.1;SYT6,missense_variant,p.Asn5Lys,ENST00000607941,NM_205848.3;SYT6,missense_variant,p.Asn90Lys,ENST00000610222,;SYT6,missense_variant,p.Asn5Lys,ENST00000608203,;SYT6,missense_variant,p.Asn57Lys,ENST00000608879,;SYT6,missense_variant,p.Asn5Lys,ENST00000609577,;SYT6,missense_variant,p.Gln63Lys,ENST00000610121,;SYT6,missense_variant,p.Gln63Lys,ENST00000610096,;							MODERATE	270/1533	N90K				Transcript		benign(0.04)	.	ENSP00000476396	1.65E-05				1	
COL28A1	0	LGGM	GRCh37	7	7413026	7413026	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	64	5	.	.	ENST00000399429.3:c.2511A>T	p.Ile837=	p.I837=	ENST00000399429	NM_001037763.2	837	atA/atT	0	1	1	UPI000155D64E	0		ENST00000399429		ENSG00000215018	22442		69			HGNC	p.I837I		COL28A1		SNV							ENST00000399429	protein_coding			PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453		I		A		2652/4277				H7C3P2_HUMAN,H7BZU0_HUMAN			YES	COL28A1,synonymous_variant,p.=,ENST00000399429,NM_001037763.2;COL28A1,upstream_gene_variant,,ENST00000430711,;							LOW	2511/3378		COSA1_HUMAN			Transcript			.	ENSP00000382356		CCDS43553.1			1	
CSF3R	0	LGGM	GRCh37	1	36937119	36937119	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	55	5	.	.	ENST00000361632.4:c.1200T>A	p.Pro400=	p.P400=	ENST00000361632		400	ccT/ccA	0	1		UPI000004CAC4	0		ENST00000361632		ENSG00000119535	2439		60			HGNC	p.P400P		CSF3R		SNV			1				ENST00000338937	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF75,hmmpanther:PTHR23036,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		T		1262/2886				E9PK56_HUMAN				CSF3R,synonymous_variant,p.=,ENST00000373103,NM_156039.3;CSF3R,synonymous_variant,p.=,ENST00000373106,NM_000760.3;CSF3R,synonymous_variant,p.=,ENST00000373104,NM_172313.2;CSF3R,synonymous_variant,p.=,ENST00000361632,;CSF3R,synonymous_variant,p.=,ENST00000418048,;CSF3R,synonymous_variant,p.=,ENST00000338937,;CSF3R,synonymous_variant,p.=,ENST00000440588,;CSF3R,synonymous_variant,p.=,ENST00000331941,;CSF3R,upstream_gene_variant,,ENST00000464465,;CSF3R,non_coding_transcript_exon_variant,,ENST00000487540,;CSF3R,non_coding_transcript_exon_variant,,ENST00000480825,;CSF3R,non_coding_transcript_exon_variant,,ENST00000464365,;CSF3R,upstream_gene_variant,,ENST00000484762,;CSF3R,upstream_gene_variant,,ENST00000466138,;CSF3R,downstream_gene_variant,,ENST00000469380,;							LOW	1200/2511		CSF3R_HUMAN			Transcript			.	ENSP00000355406		CCDS413.1			1	
SPEG	0	LGGM	GRCh37	2	220354158	220354158	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	26	5	.	.	ENST00000312358.7:c.8418C>T	p.Pro2806=	p.P2806=	ENST00000312358	NM_005876.4	2806	ccC/ccT	0	1	1	UPI000066D99E	0		ENST00000312358		ENSG00000072195	16901		31			HGNC	p.P2806P		SPEG		SNV			1				ENST00000312358	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156		P		T		8550/10782				B9A038_HUMAN			YES	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,NM_001286811.1;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;							LOW	8418/9804		SPEG_HUMAN			Transcript			.	ENSP00000311684		CCDS42824.1			1	
KIF2B	0	LGGM	GRCh37	17	51901686	51901686	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	23	5	.	.	ENST00000268919.4:c.1292T>C	p.Ile431Thr	p.I431T	ENST00000268919	NM_032559.4	431	aTc/aCc	0	1	1	UPI000013D7E6	0	getma.org/pdb.php?prot=KIF2B_HUMAN&from=219&to=543&var=I431T	ENST00000268919		ENSG00000141200	29443		28	3.795		HGNC	p.I431T		KIF2B		SNV							ENST00000268919	protein_coding	getma.org/?cm=var&var=hg19,17,51901686,T,C&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF379,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380		I/T		C	high	1448/2335		getma.org/?cm=msa&ty=f&p=KIF2B_HUMAN&rb=219&re=543&var=I431T	deleterious(0)				YES	KIF2B,missense_variant,p.Ile431Thr,ENST00000268919,NM_032559.4;							MODERATE	1292/2022	I431T	KIF2B_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000268919		CCDS32685.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70744162	70744162	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	25	5	.	.	ENST00000260126.4:c.747G>A	p.Pro249=	p.P249=	ENST00000260126	NM_030958.2	249	ccG/ccA	0	1	1	UPI0000140F53	0		ENST00000260126		ENSG00000137571	19046		30			HGNC	p.P249P		SLCO5A1		SNV							ENST00000530307	protein_coding			Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,TIGRFAM_domain:TIGR00805		P		T		1454/9076							YES	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,;							LOW	747/2547		SO5A1_HUMAN			Transcript			.	ENSP00000260126		CCDS6205.1			1	
PCCA	0	LGGM	GRCh37	13	100953850	100953850	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	35	5	.	.	ENST00000376285.1:c.1202A>G	p.Tyr401Cys	p.Y401C	ENST00000376285	NM_000282.3	401	tAt/tGt	0	1	1	UPI0000070089	0	getma.org/pdb.php?prot=PCCA_HUMAN&from=397&to=505&var=Y401C	ENST00000376285		ENSG00000175198	8653		40	2.44		HGNC	p.Y401C		PCCA		SNV			1				ENST00000376285	protein_coding	getma.org/?cm=var&var=hg19,13,100953850,A,G&fts=all		PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866,Pfam_domain:PF02785,Gene3D:3.30.470.20,SMART_domains:SM00878,Superfamily_domains:SSF51246,Superfamily_domains:SSF56059		Y/C		G	medium	1240/2491		getma.org/?cm=msa&ty=f&p=PCCA_HUMAN&rb=397&re=505&var=Y401C	deleterious(0.02)				YES	PCCA,missense_variant,p.Tyr401Cys,ENST00000376285,NM_000282.3;PCCA,missense_variant,p.Tyr375Cys,ENST00000376286,NM_001127692.2;PCCA,missense_variant,p.Tyr401Cys,ENST00000376279,NM_001178004.1;PCCA,intron_variant,,ENST00000424527,;PCCA,upstream_gene_variant,,ENST00000443601,;							MODERATE	1202/2187	Y401C	PCCA_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000365462		CCDS9496.2			1	
DYNC1H1	0	LGGM	GRCh37	14	102476298	102476298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	37	6	.	.	ENST00000360184.4:c.6096G>T	p.Leu2032Phe	p.L2032F	ENST00000360184	NM_001376.4	2032	ttG/ttT	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=1868&to=2107&var=L2032F	ENST00000360184		ENSG00000197102	2961		43	3.8		HGNC	p.L2032F		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102476298,G,T&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		L/F		T	high	6260/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=1868&re=2107&var=L2032F		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Leu2032Phe,ENST00000360184,NM_001376.4;							MODERATE	6096/13941	L2032F	DYHC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348965		CCDS9966.1			1	
OR10G8	0	LGGM	GRCh37	11	123900492	123900492	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	59	6	.	.	ENST00000431524.1:c.163A>T	p.Thr55Ser	p.T55S	ENST00000431524	NM_001004464.1	55	Acc/Tcc	0	1	1	UPI0000040A8F	0	getma.org/pdb.php?prot=O10G8_HUMAN&from=1&to=137&var=T55S	ENST00000431524		ENSG00000234560	14845		65	0.945		HGNC	p.T55S		OR10G8		SNV							ENST00000431524	protein_coding	getma.org/?cm=var&var=hg19,11,123900492,A,T&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262		T/S		T	low	196/1045		getma.org/?cm=msa&ty=f&p=O10G8_HUMAN&rb=1&re=137&var=T55S	tolerated(0.16)				YES	OR10G8,missense_variant,p.Thr55Ser,ENST00000431524,NM_001004464.1;							MODERATE	163/936	T55S	O10G8_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000389072		CCDS31704.1			1	
ZNF521	0	LGGM	GRCh37	18	22804714	22804714	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	21	6	.	.	ENST00000361524.3:c.3168G>A	p.Gly1056=	p.G1056=	ENST00000361524	NM_015461.2	1056	ggG/ggA	0	1	1	UPI000006F982	0		ENST00000361524		ENSG00000198795	24605		27			HGNC	p.G1056G		ZNF521		SNV							ENST00000399425	protein_coding			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32		G		T		3317/4871				J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN			YES	ZNF521,synonymous_variant,p.=,ENST00000361524,NM_015461.2;ZNF521,synonymous_variant,p.=,ENST00000584787,;ZNF521,synonymous_variant,p.=,ENST00000538137,;ZNF521,synonymous_variant,p.=,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,synonymous_variant,p.=,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;							LOW	3168/3936		ZN521_HUMAN			Transcript			.	ENSP00000354794		CCDS32806.1			1	
HTRA3	0	LGGM	GRCh37	4	8293133	8293133	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	16	6	.	.	ENST00000307358.2:c.745G>C	p.Asp249His	p.D249H	ENST00000307358	NM_053044.3	249	Gac/Cac	0	1	1	UPI0000001647	0	getma.org/pdb.php?prot=HTRA3_HUMAN&from=175&to=319&var=D249H	ENST00000307358		ENSG00000170801	30406	0.00026	22	1.325		HGNC	p.D249H	rs201174070	HTRA3		SNV							ENST00000382512	protein_coding	getma.org/?cm=var&var=hg19,4,8293133,G,C&fts=all		Superfamily_domains:SSF50494,Pfam_domain:PF13365,Gene3D:2.40.10.10,hmmpanther:PTHR22939:SF14,hmmpanther:PTHR22939		D/H		C	low	949/2541		getma.org/?cm=msa&ty=f&p=HTRA3_HUMAN&rb=175&re=319&var=D249H	deleterious(0)				YES	HTRA3,missense_variant,p.Asp249His,ENST00000307358,NM_053044.3;HTRA3,missense_variant,p.Asp249His,ENST00000382512,;							MODERATE	745/1362	D249H	HTRA3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000303766	2.47E-05	CCDS3400.1			1	
CLK4	0	LGGM	GRCh37	5	178050387	178050387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	24	6	.	.	ENST00000316308.4:c.31G>T	p.Asp11Tyr	p.D11Y	ENST00000316308	NM_020666.2	11	Gat/Tat	0	1	1	UPI000007065C	0	NA	ENST00000316308		ENSG00000113240	13659		30	2.39		HGNC	p.D11Y		CLK4		SNV							ENST00000520957	protein_coding	getma.org/?cm=var&var=hg19,5,178050387,C,A&fts=all		hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058		D/Y		A	medium	200/2568		getma.org/?cm=msa&ty=f&p=CLK4_HUMAN&rb=1&re=158&var=D11Y	deleterious_low_confidence(0.01)	Q68D95_HUMAN			YES	CLK4,missense_variant,p.Asp11Tyr,ENST00000316308,NM_020666.2;CLK4,missense_variant,p.Asp11Tyr,ENST00000520957,;RN7SKP70,upstream_gene_variant,,ENST00000516655,;CLK4,upstream_gene_variant,,ENST00000522749,;CLK4,missense_variant,p.Asp11Tyr,ENST00000521621,;CLK4,missense_variant,p.Asp11Tyr,ENST00000522136,;CLK4,missense_variant,p.Asp11Tyr,ENST00000522556,;CLK4,non_coding_transcript_exon_variant,,ENST00000520878,;CLK4,non_coding_transcript_exon_variant,,ENST00000519583,;CLK4,non_coding_transcript_exon_variant,,ENST00000520126,;CLK4,non_coding_transcript_exon_variant,,ENST00000520909,;CLK4,non_coding_transcript_exon_variant,,ENST00000520199,;CLK4,upstream_gene_variant,,ENST00000523013,;							MODERATE	31/1446	D11Y	CLK4_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000316948		CCDS4437.1			1	
COL6A6	0	LGGM	GRCh37	3	130292847	130292847	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	46	6	.	.	ENST00000358511.6:c.3025A>G	p.Thr1009Ala	p.T1009A	ENST00000358511	NM_001102608.1	1009	Act/Gct	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=1000&to=1173&var=T1009A	ENST00000358511		ENSG00000206384	27023		52	0.975		HGNC	p.T1009A		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130292847,A,G&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300		T/A		G	low	3056/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1000&re=1173&var=T1009A	deleterious(0.03)				YES	COL6A6,missense_variant,p.Thr1009Ala,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Thr1009Ala,ENST00000453409,;							MODERATE	3025/6792	T1009A	CO6A6_HUMAN			Transcript		benign(0.033)	.	ENSP00000351310		CCDS46911.1			1	
NUAK1	0	LGGM	GRCh37	12	106466505	106466505	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	52	6	.	.	ENST00000261402.2:c.696A>T	p.Pro232=	p.P232=	ENST00000261402	NM_014840.2	232	ccA/ccT	0	1	1	UPI00000403BC	0		ENST00000261402		ENSG00000074590	14311		58			HGNC	p.P101P		NUAK1		SNV							ENST00000548902	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF79,SMART_domains:SM00220,Superfamily_domains:SSF56112		P		A		2076/6828				F8VZ96_HUMAN,F8VXF0_HUMAN,F8VSH4_HUMAN			YES	NUAK1,synonymous_variant,p.=,ENST00000261402,NM_014840.2;NUAK1,synonymous_variant,p.=,ENST00000548902,;NUAK1,5_prime_UTR_variant,,ENST00000549704,;NUAK1,intron_variant,,ENST00000553094,;							LOW	696/1986		NUAK1_HUMAN			Transcript			.	ENSP00000261402		CCDS31892.1			1	
ANKRD44	0	LGGM	GRCh37	2	197870605	197870605	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	62	6	.	.	ENST00000282272.8:c.2136A>G	p.Gln712=	p.Q712=	ENST00000282272	NM_001195144.1	712	caA/caG	0	1		UPI0001AE772B	0		ENST00000282272		ENSG00000065413	25259		68			HGNC	p.Q695Q		ANKRD44		SNV							ENST00000450567	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,SMART_domains:SM00248,Superfamily_domains:SSF48403		Q		C		2136/2958				Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,synonymous_variant,p.=,ENST00000328737,;ANKRD44,synonymous_variant,p.=,ENST00000450567,;ANKRD44,synonymous_variant,p.=,ENST00000337207,;ANKRD44,synonymous_variant,p.=,ENST00000282272,NM_001195144.1;ANKRD44,synonymous_variant,p.=,ENST00000424317,;							LOW	2136/2958					Transcript			.	ENSP00000282272					1	
CPVL	0	LGGM	GRCh37	7	29103748	29103748	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	31	6	.	.	ENST00000409850.1:c.1066G>A	p.Glu356Lys	p.E356K	ENST00000409850		356	Gaa/Aaa	0	1		UPI0000048F1B	0	getma.org/pdb.php?prot=CPVL_HUMAN&from=64&to=468&var=E356K	ENST00000265394		ENSG00000106066	14399		37	1.7		HGNC	p.E356K		CPVL		SNV							ENST00000265394	protein_coding	getma.org/?cm=var&var=hg19,7,29103748,C,T&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00450,hmmpanther:PTHR11802,Superfamily_domains:SSF53474		E/K		T	low	1185/2091		getma.org/?cm=msa&ty=f&p=CPVL_HUMAN&rb=64&re=468&var=E356K	deleterious(0.04)	Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN				CPVL,missense_variant,p.Glu356Lys,ENST00000409850,;CPVL,missense_variant,p.Glu356Lys,ENST00000265394,NM_031311.3;CPVL,missense_variant,p.Glu356Lys,ENST00000396276,NM_019029.2;CPVL,missense_variant,p.Glu60Lys,ENST00000432534,;CPVL,intron_variant,,ENST00000455893,;CPVL,downstream_gene_variant,,ENST00000448959,;							MODERATE	1066/1431	E356K	CPVL_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000265394		CCDS5419.1			1	
DBX2	0	LGGM	GRCh37	12	45410365	45410365	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	33	7	.	.	ENST00000332700.6:c.724C>A	p.Arg242=	p.R242=	ENST00000332700	NM_001004329.2	242	Cgg/Agg	0	1	1	UPI000041A784	0		ENST00000332700		ENSG00000185610	33186		40			HGNC	p.R242R		DBX2		SNV							ENST00000332700	protein_coding			PROSITE_profiles:PS50071,hmmpanther:PTHR24331,hmmpanther:PTHR24331:SF4,PROSITE_patterns:PS00027,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689,Prints_domain:PR00024		R		T		896/2806							YES	DBX2,synonymous_variant,p.=,ENST00000332700,NM_001004329.2;							LOW	724/1020		DBX2_HUMAN			Transcript			.	ENSP00000331470		CCDS31781.1			1	
GPR98	0	LGGM	GRCh37	5	90079728	90079728	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	36	7	.	.	ENST00000405460.2:c.13507A>G	p.Ser4503Gly	p.S4503G	ENST00000405460	NM_032119.3	4503	Agc/Ggc	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		43	2.14		HGNC	p.S4503G	COSM1620640	GPR98		SNV			1			1	ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90079728,A,G&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		S/G		G	medium	13603/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=4490&re=4689&var=S4503G					YES	GPR98,missense_variant,p.Ser4503Gly,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ser164Gly,ENST00000425867,;					1		MODERATE	13507/18921	S4503G	GPR98_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000384582		CCDS47246.1			1	
PLXNA4	0	LGGM	GRCh37	7	131910963	131910963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	42	7	.	.	ENST00000359827.3:c.1939G>A	p.Ala647Thr	p.A647T	ENST00000359827		647	Gcc/Acc	0	1		UPI000004E55B	0	getma.org/pdb.php?prot=PLXA4_HUMAN&from=560&to=654&var=A647T	ENST00000321063		ENSG00000221866	9102		49	2.07		HGNC	p.A647T		PLXNA4		SNV							ENST00000359827	protein_coding	getma.org/?cm=var&var=hg19,7,131910963,C,T&fts=all		hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625		A/T		T	medium	2168/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=560&re=654&var=A647T	tolerated(0.09)					PLXNA4,missense_variant,p.Ala647Thr,ENST00000359827,;PLXNA4,missense_variant,p.Ala647Thr,ENST00000321063,NM_020911.1;							MODERATE	1939/5685	A647T	PLXA4_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000323194		CCDS43646.1			1	
CACNA1I	0	LGGM	GRCh37	22	39996615	39996615	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	54	7	.	.	ENST00000402142.3:c.439G>A	p.Gly147Arg	p.G147R	ENST00000402142	NM_021096.3	147	Ggg/Agg	0	1	1	UPI000012727D	0	getma.org/pdb.php?prot=CAC1I_HUMAN&from=117&to=397&var=G147R	ENST00000402142		ENSG00000100346	1396		61	0.12		HGNC	p.G147R		CACNA1I		SNV							ENST00000407673	protein_coding	getma.org/?cm=var&var=hg19,22,39996615,G,A&fts=all		hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		G/R		A	neutral	439/10004		getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=117&re=397&var=G147R	tolerated(0.1)				YES	CACNA1I,missense_variant,p.Gly147Arg,ENST00000336649,;CACNA1I,missense_variant,p.Gly147Arg,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Gly147Arg,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Gly147Arg,ENST00000400164,;CACNA1I,missense_variant,p.Gly147Arg,ENST00000401624,;CACNA1I,missense_variant,p.Gly147Arg,ENST00000407673,;							MODERATE	439/6672	G147R	CAC1I_HUMAN			Transcript		benign(0.134)	.	ENSP00000385019		CCDS46710.1			1	
FANCD2	0	LGGM	GRCh37	3	10128861	10128861	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	57	8	.	.	ENST00000287647.3:c.3379A>T	p.Ser1127Cys	p.S1127C	ENST00000287647	NM_033084.3	1127	Agt/Tgt	0	1		UPI000006CD51	0	NA	ENST00000383807		ENSG00000144554	3585		65	1.845		HGNC	p.S1127C		FANCD2		SNV			1				ENST00000419585	protein_coding	getma.org/?cm=var&var=hg19,3,10128861,A,T&fts=all		hmmpanther:PTHR32086,Pfam_domain:PF14631		S/C		T	low	3457/5102		getma.org/?cm=msa&ty=f&p=FACD2_HUMAN&rb=1&re=1470&var=S1127C	deleterious(0)					FANCD2,missense_variant,p.Ser1127Cys,ENST00000287647,NM_033084.3;FANCD2,missense_variant,p.Ser1127Cys,ENST00000419585,;FANCD2,missense_variant,p.Ser1127Cys,ENST00000383807,NM_001018115.1;FANCD2,missense_variant,p.Ser1127Cys,ENST00000383806,;FANCD2OS,intron_variant,,ENST00000524279,NM_173472.1;FANCD2OS,non_coding_transcript_exon_variant,,ENST00000436517,;FANCD2OS,non_coding_transcript_exon_variant,,ENST00000431315,;FANCD2OS,upstream_gene_variant,,ENST00000450616,;FANCD2,missense_variant,p.Ser627Cys,ENST00000421731,;							MODERATE	3379/4356	S1127C	FACD2_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000373318		CCDS33696.1			1	
COL6A5	0	LGGM	GRCh37	3	130159453	130159453	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	64	8	.	.	ENST00000265379.6:c.6271T>A	p.Tyr2091Asn	p.Y2091N	ENST00000265379	NM_001278298.1	2091	Tat/Aat	0	1		UPI00015E564F	0	NA	ENST00000312481		ENSG00000172752	26674		72	0		HGNC	p.Y2091N		COL6A5		SNV							ENST00000265379	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,3,130159453,T,A&fts=all		PROSITE_profiles:PS50234,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		Y/N		A	neutral	6765/9226		getma.org/?cm=msa&ty=f&p=CO6A5_HUMAN&rb=1963&re=2141&var=Y2091N	tolerated(0.13)					COL6A5,missense_variant,p.Tyr2091Asn,ENST00000265379,NM_001278298.1;COL6A5,missense_variant,p.Tyr2091Asn,ENST00000432398,NM_153264.6;COL6A5,missense_variant,p.Tyr343Asn,ENST00000512836,;COL6A5,missense_variant,p.Tyr34Asn,ENST00000373157,;COL6A5,upstream_gene_variant,,ENST00000512482,;COL6A5,missense_variant,p.Tyr2091Asn,ENST00000312481,;							MODERATE	6271/7848	Y2091N	CO6A5_HUMAN			Transcript		benign(0.006)	.	ENSP00000309762					1	
VPS13B	0	LGGM	GRCh37	8	100712015	100712015	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	108	9	.	.	ENST00000358544.2:c.6384T>G	p.Val2128=	p.V2128=	ENST00000358544	NM_017890.4	2128	gtT/gtG	0	1	1	UPI00001D2D35	0		ENST00000358544		ENSG00000132549	2183		117			HGNC	p.V2103V		VPS13B		SNV			1				ENST00000357162	protein_coding			hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		V		G		6495/14094							YES	VPS13B,synonymous_variant,p.=,ENST00000358544,NM_017890.4;VPS13B,synonymous_variant,p.=,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;AC018442.1,downstream_gene_variant,,ENST00000421439,;							LOW	6384/12069		VP13B_HUMAN			Transcript			.	ENSP00000351346		CCDS6280.1			1	
DUS4L	0	LGGM	GRCh37	7	107214247	107214247	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	52	9	.	.	ENST00000265720.3:c.337A>T	p.Asn113Tyr	p.N113Y	ENST00000265720	NM_001270419.1	113	Aac/Tac	0	1	1	UPI000006DD5D	0	getma.org/pdb.php?prot=DUS4L_HUMAN&from=30&to=310&var=N113Y	ENST00000265720		ENSG00000105865	21517		61	4.335		HGNC	p.N113Y		DUS4L		SNV							ENST00000265720	protein_coding	getma.org/?cm=var&var=hg19,7,107214247,A,T&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF01207,PIRSF_domain:PIRSF006621,PROSITE_patterns:PS01136,hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF25,Superfamily_domains:SSF51395		N/Y		T	high	699/2217		getma.org/?cm=msa&ty=f&p=DUS4L_HUMAN&rb=30&re=310&var=N113Y	deleterious(0)	A4D0R5_HUMAN,F8WEL2_HUMAN,B4DFH2_HUMAN			YES	DUS4L,missense_variant,p.Asn113Tyr,ENST00000265720,NM_001270419.1,NM_181581.2;DUS4L,intron_variant,,ENST00000402620,;DUS4L,missense_variant,p.Asn113Tyr,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,;							MODERATE	337/954	N113Y	DUS4L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265720		CCDS5745.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18574257	18574257	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	81	11	.	.	ENST00000380548.4:c.467T>A	p.Leu156Ter	p.L156*	ENST00000380548	NM_001040272.5	156	tTa/tAa	0	1	1	UPI000004FD83	0	NA	ENST00000380548		ENSG00000178031	14632		92	0		HGNC	p.L156X		ADAMTSL1		SNV							ENST00000327883	protein_coding	getma.org/?cm=var&var=hg19,9,18574257,T,A&fts=all		hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Prints_domain:PR01857		L/*		A	NA	806/8030		NA		H7BYE3_HUMAN			YES	ADAMTSL1,stop_gained,p.Leu156Ter,ENST00000380548,NM_001040272.5;ADAMTSL1,stop_gained,p.Leu156Ter,ENST00000276935,;ADAMTSL1,stop_gained,p.Leu156Ter,ENST00000380566,;ADAMTSL1,stop_gained,p.Leu156Ter,ENST00000327883,NM_052866.4;ADAMTSL1,stop_gained,p.Leu156Ter,ENST00000380570,;ADAMTSL1,stop_gained,p.Leu156Ter,ENST00000431052,;MIR3152,downstream_gene_variant,,ENST00000579801,;							HIGH	467/5289	L156*	ATL1_HUMAN			Transcript			.	ENSP00000369921		CCDS47954.1			1	
NPAT	0	LGGM	GRCh37	11	108040508	108040508	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	51	11	.	.	ENST00000278612.8:c.2973T>G	p.Ser991=	p.S991=	ENST00000278612	NM_002519.2	991	tcT/tcG	0	1	1	UPI00001FA306	0		ENST00000278612		ENSG00000149308	7896		62			HGNC	p.S991S		NPAT		SNV							ENST00000278612	protein_coding			hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087		S		C		3079/6117							YES	NPAT,synonymous_variant,p.=,ENST00000278612,NM_002519.2;NPAT,downstream_gene_variant,,ENST00000610253,;NPAT,non_coding_transcript_exon_variant,,ENST00000530859,;							LOW	2973/4284		NPAT_HUMAN			Transcript			.	ENSP00000278612		CCDS41710.1			1	
C3orf33	0	LGGM	GRCh37	3	155481455	155481455	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	50	11	.	.	ENST00000534941.1:c.607A>G	p.Thr203Ala	p.T203A	ENST00000534941	NM_173657.1	203	Aca/Gca	0	1		UPI0000160BCF	0	NA	ENST00000340171		ENSG00000174928	26434		61	0.84		HGNC	p.T203A	rs748793393	C3orf33		SNV							ENST00000534941	protein_coding	getma.org/?cm=var&var=hg19,3,155481455,T,C&fts=all				T/A		C	low	835/1884	3.09E-05	getma.org/?cm=msa&ty=f&p=CC033_HUMAN&rb=219&re=292&var=T246A	tolerated_low_confidence(0.57)					C3orf33,missense_variant,p.Thr203Ala,ENST00000534941,NM_173657.1;C3orf33,missense_variant,p.Thr246Ala,ENST00000340171,;C3orf33,3_prime_UTR_variant,,ENST00000482061,;C3orf33,3_prime_UTR_variant,,ENST00000465810,;C3orf33,downstream_gene_variant,,ENST00000486435,;RP11-674E16.1,downstream_gene_variant,,ENST00000469035,;							MODERATE	736/885	T246A	CC033_HUMAN			Transcript		benign(0.002)	.	ENSP00000342512	1.66E-05				1	
PARP4	0	LGGM	GRCh37	13	25009547	25009547	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	87	12	.	.	ENST00000381989.3:c.3732A>G	p.Pro1244=	p.P1244=	ENST00000381989	NM_006437.3	1244	ccA/ccG	0	1	1	UPI000013C76E	0		ENST00000381989		ENSG00000102699	271		99			HGNC	p.P1244P		PARP4		SNV							ENST00000381989	protein_coding			hmmpanther:PTHR10338:SF7,hmmpanther:PTHR10338		P		C		3838/5474							YES	PARP4,synonymous_variant,p.=,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;							LOW	3732/5175		PARP4_HUMAN			Transcript			.	ENSP00000371419		CCDS9307.1			1	
CDH9	0	LGGM	GRCh37	5	26915882	26915882	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	73	13	.	.	ENST00000231021.4:c.379C>A	p.Arg127Ser	p.R127S	ENST00000231021	NM_016279.3	127	Cgt/Agt	0	1	1	UPI000013C945	0	getma.org/pdb.php?prot=CADH9_HUMAN&from=59&to=150&var=R127S	ENST00000231021		ENSG00000113100	1768		86	1.945		HGNC	p.R127S		CDH9		SNV							ENST00000513289	protein_coding	getma.org/?cm=var&var=hg19,5,26915882,G,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268		R/S		T	medium	552/3079		getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=59&re=150&var=R127S	tolerated(0.07)	E7EPN0_HUMAN,D6RBT9_HUMAN			YES	CDH9,missense_variant,p.Arg127Ser,ENST00000231021,NM_016279.3;CDH9,missense_variant,p.Arg127Ser,ENST00000513289,;CDH9,downstream_gene_variant,,ENST00000511822,;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;							MODERATE	379/2370	R127S	CADH9_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000231021		CCDS3893.1			1	
PCDHA8	0	LGGM	GRCh37	5	140222267	140222267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	47	13	.	.	ENST00000531613.1:c.1361C>A	p.Ala454Glu	p.A454E	ENST00000531613	NM_018911.2	454	gCg/gAg	0	1	1	UPI00001273D0	0	getma.org/pdb.php?prot=PCDA8_HUMAN&from=351&to=455&var=A454E	ENST00000531613		ENSG00000204962	8674		60	-0.19		HGNC	p.A454E		PCDHA8		SNV							ENST00000531613	protein_coding	getma.org/?cm=var&var=hg19,5,140222267,C,A&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,Superfamily_domains:SSF49313		A/E		A	neutral	1361/5260		getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=351&re=455&var=A454E	deleterious_low_confidence(0.01)				YES	PCDHA8,missense_variant,p.Ala454Glu,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Ala454Glu,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,,ENST00000532602,NM_031857.1;							MODERATE	1361/2853	A454E	PCDA8_HUMAN			Transcript		benign(0.121)	.	ENSP00000434655		CCDS54919.1			1	
KBTBD12	0	LGGM	GRCh37	3	127642827	127642827	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	82	13	.	.	ENST00000405109.1:c.923C>G	p.Thr308Ser	p.T308S	ENST00000405109		308	aCc/aGc	0	1	1	UPI00001D802F	0	NA	ENST00000405109		ENSG00000187715	25731		95	1.905		HGNC	p.T308S		KBTBD12		SNV							ENST00000405256	protein_coding	getma.org/?cm=var&var=hg19,3,127642827,C,G&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25		T/S		G	medium	1390/5727		getma.org/?cm=msa&ty=f&p=KBTBC_HUMAN&rb=236&re=374&var=T308S	tolerated(0.16)	B5MCZ4_HUMAN			YES	KBTBD12,missense_variant,p.Thr308Ser,ENST00000405109,;KBTBD12,missense_variant,p.Thr308Ser,ENST00000405256,NM_207335.2;KBTBD12,intron_variant,,ENST00000407609,;KBTBD12,intron_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,upstream_gene_variant,,ENST00000492025,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;							MODERATE	923/1872	T308S	KBTBC_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000385957		CCDS33848.2			1	
SLC13A1	0	LGGM	GRCh37	7	122811827	122811827	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	70	15	.	.	ENST00000194130.2:c.360T>G	p.Pro120=	p.P120=	ENST00000194130	NM_022444.3	120	ccT/ccG	0	1	1	UPI0000049F9D	0		ENST00000194130		ENSG00000081800	10916		85			HGNC	p.P56P		SLC13A1		SNV							ENST00000539873	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF65,Pfam_domain:PF00939		P		C		400/3815				Q75MH3_HUMAN,Q75LT0_HUMAN,A4D0X1_HUMAN			YES	SLC13A1,synonymous_variant,p.=,ENST00000194130,NM_022444.3;SLC13A1,synonymous_variant,p.=,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;							LOW	360/1788		S13A1_HUMAN			Transcript			.	ENSP00000194130		CCDS5786.1			1	
THUMPD2	0	LGGM	GRCh37	2	39988514	39988514	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	75	15	.	.	ENST00000505747.1:c.848G>A	p.Arg283Gln	p.R283Q	ENST00000505747	NM_025264.4	283	cGa/cAa	0	1	1	UPI0000D6DA73	0	getma.org/pdb.php?prot=THUM2_HUMAN&from=242&to=402&var=R283Q	ENST00000505747		ENSG00000138050	14890		90	2.93		HGNC	p.R283Q	rs757226544	THUMPD2	6.06E-05	SNV							ENST00000378727	protein_coding	getma.org/?cm=var&var=hg19,2,39988514,C,T&fts=all		hmmpanther:PTHR14911:SF1,hmmpanther:PTHR14911,Gene3D:3.40.50.150,Pfam_domain:PF01170		R/Q		T	medium	876/1970		getma.org/?cm=msa&ty=f&p=THUM2_HUMAN&rb=242&re=402&var=R283Q	deleterious(0)	D6W593_HUMAN			YES	THUMPD2,missense_variant,p.Arg283Gln,ENST00000505747,NM_025264.4;THUMPD2,missense_variant,p.Arg253Gln,ENST00000260619,;THUMPD2,3_prime_UTR_variant,,ENST00000454352,;THUMPD2,missense_variant,p.Arg283Gln,ENST00000378727,;THUMPD2,3_prime_UTR_variant,,ENST00000530522,;THUMPD2,3_prime_UTR_variant,,ENST00000510781,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000460072,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000527689,;							MODERATE	848/1512	R283Q	THUM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000423933	2.47E-05	CCDS1805.2	0.0022		1	
KRTAP10-9	0	LGGM	GRCh37	21	46047739	46047739	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060362	H060362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	124	17	.	.	ENST00000397911.3:c.651G>A	p.Pro217=	p.P217=	ENST00000397911	NM_198690.2	217	ccG/ccA	0	1	1	UPI000036709D	0		ENST00000397911		ENSG00000221837	22971	0.000173	141			HGNC	p.P217P	rs587748199	KRTAP10-9		SNV							ENST00000397911	protein_coding		A:0	Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18		P		A		700/1255	1.50E-05				A:0.0029	A:0	YES	KRTAP10-9,synonymous_variant,p.=,ENST00000397911,NM_198690.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;KRTAP10-9,intron_variant,,ENST00000484861,;		A:0.0004					LOW	651/879		KR109_HUMAN	0.000151	A:0	Transcript			.	ENSP00000381009	3.29E-05	CCDS42961.1		A:0	1	
TRBV5-4	0	LGGM	GRCh37	7	142168413	142168413	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	52	19	.	.	ENST00000454561.2:c.310G>A	p.Asp104Asn	p.D104N	ENST00000454561		104	Gac/Aac	0	1	1	UPI0001AE7163	0		ENST00000454561		ENSG00000230099	12221		71			HGNC	p.D104N	rs779928869	TRBV5-4		SNV							ENST00000454561	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF21,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		D/N		T		511/544			deleterious(0.01)				YES	TRBV5-4,missense_variant,p.Asp104Asn,ENST00000454561,;							MODERATE	310/343					Transcript		possibly_damaging(0.636)	.	ENSP00000413966					1	
HEMGN	0	LGGM	GRCh37	9	100693021	100693021	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060362	H060362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	119	20	.	.	ENST00000259456.3:c.656A>G	p.Tyr219Cys	p.Y219C	ENST00000259456	NM_018437.4	219	tAc/tGc	0	1	1	UPI000004D311	0	NA	ENST00000259456		ENSG00000136929	17509		139	0.145		HGNC	p.Y219C		HEMGN		SNV							ENST00000259456	protein_coding	getma.org/?cm=var&var=hg19,9,100693021,T,C&fts=all		hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993		Y/C		C	neutral	800/2192		getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=Y219C	tolerated(0.2)				YES	HEMGN,missense_variant,p.Tyr219Cys,ENST00000259456,NM_018437.4,NM_197978.2;							MODERATE	656/1455	Y219C	HEMGN_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000259456		CCDS6731.1			1	
MAP7	0	LGGM	GRCh37	6	136681855	136681855	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060362	H060362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	184	22	.	.	ENST00000454590.1:c.1849G>A	p.Glu617Lys	p.E617K	ENST00000454590	NM_001198614.1	617	Gag/Aag	0	1		UPI0000072AD5	0	NA	ENST00000354570		ENSG00000135525	6869		206	3.24		HGNC	p.E580K		MAP7		SNV							ENST00000544465	protein_coding	getma.org/?cm=var&var=hg19,6,136681855,C,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05672,hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4		E/K		T	medium	2194/4152		getma.org/?cm=msa&ty=f&p=MAP7_HUMAN&rb=456&re=625&var=E595K	deleterious(0)					MAP7,missense_variant,p.Glu595Lys,ENST00000354570,NM_001198616.1,NM_003980.4,NM_001198617.1,NM_001198619.1;MAP7,missense_variant,p.Glu617Lys,ENST00000454590,NM_001198614.1,NM_001198609.1,NM_001198608.1;MAP7,missense_variant,p.Glu449Lys,ENST00000432797,NM_001198618.1;MAP7,missense_variant,p.Glu580Lys,ENST00000544465,NM_001198615.1;MAP7,missense_variant,p.Glu580Lys,ENST00000438100,NM_001198611.1;RP3-406A7.3,upstream_gene_variant,,ENST00000571188,;RP3-406A7.3,upstream_gene_variant,,ENST00000407767,;							MODERATE	1783/2250	E595K	MAP7_HUMAN			Transcript		unknown(0)	.	ENSP00000346581		CCDS5178.1			1	
USP13	0	LGGM	GRCh37	3	179501904	179501904	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060362	H060362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060362N.bam, H060362T.bam	Illumina HiSeq	85	26	.	.	ENST00000263966.3:c.2567A>G	p.Tyr856Cys	p.Y856C	ENST00000263966	NM_003940.2	856	tAc/tGc	0	1	1	UPI000006DC10	0	getma.org/pdb.php?prot=UBP13_HUMAN&from=333&to=858&var=Y856C	ENST00000263966		ENSG00000058056	12611		111	3.64		HGNC	p.Y791C		USP13		SNV							ENST00000496897	protein_coding	getma.org/?cm=var&var=hg19,3,179501904,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF426,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001		Y/C		G	high	3038/8323		getma.org/?cm=msa&ty=f&p=UBP13_HUMAN&rb=333&re=858&var=Y856C	deleterious(0)				YES	USP13,missense_variant,p.Tyr856Cys,ENST00000263966,NM_003940.2;USP13,missense_variant,p.Tyr791Cys,ENST00000496897,;							MODERATE	2567/2592	Y856C	UBP13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263966		CCDS3235.1			1	
ITGB2	0	LGGM	GRCh37	21	46309205	46309205	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	7	2	.	.	ENST00000397850.2:c.1863C>A	p.Pro621=	p.P621=	ENST00000397850		621	ccC/ccA	0	1		UPI000016A19B	0		ENST00000302347		ENSG00000160255	6155		9			HGNC	p.P621P		ITGB2		SNV			1				ENST00000397852	protein_coding			hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF15,PIRSF_domain:PIRSF002512,Superfamily_domains:0039775		P		T		2096/2955				Q96PT7_HUMAN,E7EVZ9_HUMAN,E5RK54_HUMAN,E5RK25_HUMAN,E5RIG7_HUMAN,E5RHT0_HUMAN,E5RHE6_HUMAN,E5RFI0_HUMAN				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,;ITGB2,3_prime_UTR_variant,,ENST00000523323,;ITGB2,non_coding_transcript_exon_variant,,ENST00000498666,;ITGB2,non_coding_transcript_exon_variant,,ENST00000475170,;ITGB2,upstream_gene_variant,,ENST00000479202,;							LOW	1863/2310		ITB2_HUMAN			Transcript			.	ENSP00000303242		CCDS13716.1			1	
ZNF747	0	LGGM	GRCh37	16	30545841	30545841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	3	2	.	.	ENST00000252799.3:c.160C>A	p.Leu54Met	p.L54M	ENST00000252799	NM_023931.2	54	Ctg/Atg	0	1	1	UPI000006E561	0	getma.org/pdb.php?prot=ZN747_HUMAN&from=37&to=77&var=L54M	ENST00000252799		ENSG00000169955	28350		5	3.075		HGNC	p.L54M		ZNF747		SNV							ENST00000535210	protein_coding	getma.org/?cm=var&var=hg19,16,30545841,G,T&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF47,SMART_domains:SM00349		L/M		T	medium	828/3936		getma.org/?cm=msa&ty=f&p=ZN747_HUMAN&rb=37&re=77&var=L54M	deleterious(0.01)				YES	ZNF747,missense_variant,p.Leu54Met,ENST00000252799,NM_023931.2;ZNF747,missense_variant,p.Leu54Met,ENST00000395094,;ZNF747,missense_variant,p.Leu54Met,ENST00000535210,;ZNF747,missense_variant,p.Leu54Met,ENST00000568028,;AC002310.13,intron_variant,,ENST00000568114,;AC002310.12,upstream_gene_variant,,ENST00000457283,;AC002310.12,upstream_gene_variant,,ENST00000569752,;ZNF747,missense_variant,p.Leu54Met,ENST00000569360,;AC002310.10,downstream_gene_variant,,ENST00000569728,;							MODERATE	160/576	L54M	ZN747_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000252799		CCDS10682.1			1	
RPL7L1	0	LGGM	GRCh37	6	42854117	42854117	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	27	3	.	.	ENST00000493763.1:c.656A>G	p.Lys219Arg	p.K219R	ENST00000493763	NM_198486.2	219	aAa/aGa	0	1		UPI00001D81E1	0	getma.org/pdb.php?prot=RL7L_HUMAN&from=139&to=246&var=K219R	ENST00000304734		ENSG00000146223	21370	8.67E-05	30	1.315		HGNC	p.K219R	rs760670367	RPL7L1		SNV							ENST00000493763	protein_coding	getma.org/?cm=var&var=hg19,6,42854117,A,G&fts=all		Superfamily_domains:SSF55129,Gene3D:3.30.1390.20,TIGRFAM_domain:TIGR01310,hmmpanther:PTHR11524:SF13,hmmpanther:PTHR11524		K/R		G	low	912/3769	1.51E-05	getma.org/?cm=msa&ty=f&p=RL7L_HUMAN&rb=139&re=246&var=K219R	tolerated(0.38)	B7Z4G0_HUMAN,A8K5J5_HUMAN				RPL7L1,missense_variant,p.Lys219Arg,ENST00000493763,NM_198486.2;RPL7L1,missense_variant,p.Lys219Arg,ENST00000304734,;RPL7L1,3_prime_UTR_variant,,ENST00000424341,;RPL7L1,downstream_gene_variant,,ENST00000602561,;C6orf226,downstream_gene_variant,,ENST00000408925,NM_001008739.1;RPL7L1,non_coding_transcript_exon_variant,,ENST00000397415,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000483998,;RPL7L1,downstream_gene_variant,,ENST00000462348,;RPL7L1,downstream_gene_variant,,ENST00000487619,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000459829,;RPL7L1,downstream_gene_variant,,ENST00000497417,;							MODERATE	656/741	K219R	RL7L_HUMAN			Transcript		benign(0.001)	.	ENSP00000346063	1.65E-05	CCDS4873.1			1	
TIGD3	0	LGGM	GRCh37	11	65123493	65123493	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	31	3	.	.	ENST00000309880.5:c.214C>A	p.Arg72=	p.R72=	ENST00000309880	NM_145719.2	72	Cgg/Agg	0	1	1	UPI000013EF51	0		ENST00000309880		ENSG00000173825	18334		34			HGNC	p.R72R		TIGD3		SNV							ENST00000309880	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS51253,hmmpanther:PTHR19303:SF163,hmmpanther:PTHR19303,Superfamily_domains:SSF46689		R		A		421/2012							YES	TIGD3,synonymous_variant,p.=,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,;							LOW	214/1416		TIGD3_HUMAN			Transcript			.	ENSP00000308354		CCDS8101.1			1	
SIGLEC12	0	LGGM	GRCh37	19	52001287	52001287	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	29	3	.	.	ENST00000291707.3:c.1390C>A	p.Gln464Lys	p.Q464K	ENST00000291707	NM_053003.2	464	Caa/Aaa	0	1	1	UPI0000135992	0	getma.org/pdb.php?prot=SIG12_HUMAN&from=381&to=464&var=Q464K	ENST00000291707		ENSG00000254521	15482		32	2.355		HGNC	p.Q346K		SIGLEC12		SNV							ENST00000598614	protein_coding	getma.org/?cm=var&var=hg19,19,52001287,G,T&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/K		T	medium	1446/2121		getma.org/?cm=msa&ty=f&p=SIG12_HUMAN&rb=381&re=464&var=Q464K	tolerated(0.13)				YES	SIGLEC12,missense_variant,p.Gln464Lys,ENST00000291707,NM_053003.2;SIGLEC12,missense_variant,p.Gln346Lys,ENST00000598614,NM_033329.1;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;							MODERATE	1390/1788	Q464K	SIG12_HUMAN			Transcript		possibly_damaging(0.517)	.	ENSP00000291707		CCDS12833.1			1	
CRTC3	0	LGGM	GRCh37	15	91150710	91150710	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	23	5	.	.	ENST00000268184.6:c.577G>A	p.Gly193Ser	p.G193S	ENST00000268184		193	Ggt/Agt	0	1	1	UPI00001FEB98	0	NA	ENST00000268184		ENSG00000140577	26148		28	0.235		HGNC	p.G193S		CRTC3		SNV							ENST00000420329	protein_coding	getma.org/?cm=var&var=hg19,15,91150710,G,A&fts=all		Pfam_domain:PF12885,hmmpanther:PTHR13589,hmmpanther:PTHR13589:SF4		G/S		A	neutral	581/2537		getma.org/?cm=msa&ty=f&p=CRTC3_HUMAN&rb=159&re=323&var=G193S	tolerated(0.16)				YES	CRTC3,missense_variant,p.Gly193Ser,ENST00000420329,NM_022769.4,NM_001042574.2;CRTC3,missense_variant,p.Gly193Ser,ENST00000268184,;CRTC3,missense_variant,p.Val91Ile,ENST00000558005,;CTD-3065B20.3,intron_variant,,ENST00000559839,;CRTC3,splice_region_variant,,ENST00000561255,;CRTC3,downstream_gene_variant,,ENST00000558619,;CRTC3,downstream_gene_variant,,ENST00000558496,;CRTC3,splice_region_variant,,ENST00000561119,;							MODERATE	577/1860	G193S	CRTC3_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000268184		CCDS32331.1			1	
PLA2G4F	0	LGGM	GRCh37	15	42446605	42446605	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	5	5	.	.	ENST00000382396.4:c.236G>C	p.Ser79Thr	p.S79T	ENST00000382396		79	aGc/aCc	0	1		UPI00015DFCD6	0	getma.org/pdb.php?prot=PA24F_HUMAN&from=46&to=126&var=S79T	ENST00000397272		ENSG00000168907	27396		10	1.075		HGNC	p.S79T		PLA2G4F		SNV							ENST00000397272	protein_coding	getma.org/?cm=var&var=hg19,15,42446605,C,G&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10728:SF22,hmmpanther:PTHR10728,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		S/T		G	low	328/3498		getma.org/?cm=msa&ty=f&p=PA24F_HUMAN&rb=46&re=126&var=S79T	tolerated(0.56)	C9J281_HUMAN				PLA2G4F,missense_variant,p.Ser79Thr,ENST00000397272,NM_213600.3;PLA2G4F,missense_variant,p.Ser79Thr,ENST00000382396,;VPS39,downstream_gene_variant,,ENST00000318006,NM_015289.2;PLA2G4F,missense_variant,p.Ser79Thr,ENST00000569985,;PLA2G4F,missense_variant,p.Ala55Pro,ENST00000290497,;PLA2G4F,missense_variant,p.Ser79Thr,ENST00000561627,;PLA2G4F,3_prime_UTR_variant,,ENST00000565553,;VPS39,downstream_gene_variant,,ENST00000562258,;							MODERATE	236/2556	S79T				Transcript		benign(0.042)	.	ENSP00000380442					1	
TLR9	0	LGGM	GRCh37	3	52255437	52255445	+	inframe_deletion	In_Frame_Del	DEL	GACGTCCTT	GACGTCCTT	-	novel	by Submitter	H060417	H060417N.bam	GACGTCCTT	GACGTCCTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	5	.	.	ENST00000360658.2:c.2887_2895del	p.Lys963_Val965del	p.K963_V965del	ENST00000360658	NM_017442.3	963	AAGGACGTC/-	0	1	1	UPI0000001625	0		ENST00000360658		ENSG00000239732	15633		16			HGNC	p.987_989del		TLR9		deletion							ENST00000597542	protein_coding			Gene3D:3.40.50.10140,Pfam_domain:PF01582,PROSITE_profiles:PS50104,SMART_domains:SM00255,Superfamily_domains:SSF52200		KDV/-		-		3521-3529/3870				C3W5P5_HUMAN			YES	TLR9,inframe_deletion,p.Lys987_Val989del,ENST00000597542,;TLR9,inframe_deletion,p.Lys963_Val965del,ENST00000360658,NM_017442.3;TLR9,inframe_deletion,p.Lys1117_Val1119del,ENST00000494383,;TLR9,downstream_gene_variant,,ENST00000478201,;							MODERATE	2887-2895/3099		TLR9_HUMAN			Transcript			.	ENSP00000353874		CCDS2848.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	15	13	.	.	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41A	ENST00000349496	pathogenic	ENSG00000168036	2514		28	2.445		HGNC	p.T41A	rs121913412,COSM5664	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266124,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/A		G	medium	401/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	121/2346	T41A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
SPG20	0	LGGM	GRCh37	13	36909737	36909737	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	37	6	.	.	ENST00000451493.1:c.231G>A	p.Met77Ile	p.M77I	ENST00000451493	NM_001142295.1	77	atG/atA	0	1		UPI000006F5EE	0	getma.org/pdb.php?prot=SPG20_HUMAN&from=19&to=95&var=M77I	ENST00000355182		ENSG00000133104	18514		43	1.7		HGNC	p.M77I		SPG20		SNV			1				ENST00000423217	protein_coding	getma.org/?cm=var&var=hg19,13,36909737,C,T&fts=all		Gene3D:1.20.58.280,Pfam_domain:PF04212,hmmpanther:PTHR21068,hmmpanther:PTHR21068:SF20,SMART_domains:SM00745		M/I		T	low	325/4820		getma.org/?cm=msa&ty=f&p=SPG20_HUMAN&rb=19&re=95&var=M77I	deleterious(0.01)					SPG20,missense_variant,p.Met77Ile,ENST00000451493,NM_001142295.1;SPG20,missense_variant,p.Met77Ile,ENST00000355182,NM_001142294.1;SPG20,missense_variant,p.Met77Ile,ENST00000438666,NM_015087.4;SPG20,missense_variant,p.Met77Ile,ENST00000494062,NM_001142296.1;SPG20,non_coding_transcript_exon_variant,,ENST00000495510,;SPG20,non_coding_transcript_exon_variant,,ENST00000494703,;SPG20,non_coding_transcript_exon_variant,,ENST00000476377,;							MODERATE	231/2001	M77I	SPG20_HUMAN			Transcript		benign(0.337)	.	ENSP00000347314		CCDS9356.1			1	
VTA1	0	LGGM	GRCh37	6	142468429	142468429	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	6	.	.	ENST00000367630.4:c.5C>T	p.Ala2Val	p.A2V	ENST00000367630	NM_016485.3	2	gCc/gTc	0	1	1	UPI0000034E19	0	NA	ENST00000367630		ENSG00000009844	20954		17	1.935		HGNC	p.A2V	rs765995461	VTA1	6.07E-05	SNV							ENST00000367630	protein_coding	getma.org/?cm=var&var=hg19,6,142468429,C,T&fts=all		hmmpanther:PTHR12741,Low_complexity_(Seg):seg		A/V		T	medium	63/7028		getma.org/?cm=msa&ty=f&p=VTA1_HUMAN&rb=1&re=44&var=A2V	deleterious_low_confidence(0)				YES	VTA1,missense_variant,p.Ala2Val,ENST00000367630,NM_016485.3;VTA1,5_prime_UTR_variant,,ENST00000452973,NM_001286372.1;VTA1,5_prime_UTR_variant,,ENST00000367621,;							MODERATE	5/924	A2V	VTA1_HUMAN			Transcript		benign(0.184)	.	ENSP00000356602	8.24E-06	CCDS5197.1			1	
TYMP	0	LGGM	GRCh37	22	50967667	50967667	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	9	7	.	.	ENST00000395681.1:c.315A>T	p.Pro105=	p.P105=	ENST00000395681		105	ccA/ccT	0	1		UPI000013CD32	0		ENST00000252029		ENSG00000025708	3148		16			HGNC	p.P105P		TYMP		SNV			1				ENST00000252029	protein_coding			PIRSF_domain:PIRSF000478,hmmpanther:PTHR10515,hmmpanther:PTHR10515:SF1,TIGRFAM_domain:TIGR02644		P		A		478/1630				E5KRG5_HUMAN				TYMP,synonymous_variant,p.=,ENST00000252029,NM_001953.4,NM_001113755.2,NM_001257989.1,NM_001113756.2,NM_001257988.1;TYMP,synonymous_variant,p.=,ENST00000395678,;TYMP,synonymous_variant,p.=,ENST00000395680,;TYMP,synonymous_variant,p.=,ENST00000395681,;TYMP,synonymous_variant,p.=,ENST00000425169,;SCO2,upstream_gene_variant,,ENST00000543927,NM_001169109.1;SCO2,upstream_gene_variant,,ENST00000535425,NM_001169110.1;SCO2,upstream_gene_variant,,ENST00000252785,NM_001169111.1;SCO2,upstream_gene_variant,,ENST00000395693,NM_005138.2;ODF3B,downstream_gene_variant,,ENST00000329363,NM_001014440.3;ODF3B,downstream_gene_variant,,ENST00000405135,;ODF3B,downstream_gene_variant,,ENST00000401779,;ODF3B,downstream_gene_variant,,ENST00000428989,;ODF3B,downstream_gene_variant,,ENST00000403326,;SCO2,upstream_gene_variant,,ENST00000423348,;SCO2,upstream_gene_variant,,ENST00000439934,;ODF3B,downstream_gene_variant,,ENST00000437588,;CTA-384D8.36,downstream_gene_variant,,ENST00000608319,;TYMP,non_coding_transcript_exon_variant,,ENST00000487162,;TYMP,non_coding_transcript_exon_variant,,ENST00000487577,;TYMP,non_coding_transcript_exon_variant,,ENST00000476284,;ODF3B,downstream_gene_variant,,ENST00000468249,;ODF3B,downstream_gene_variant,,ENST00000463472,;ODF3B,downstream_gene_variant,,ENST00000469660,;							LOW	315/1449		TYPH_HUMAN			Transcript			.	ENSP00000252029		CCDS14096.1			1	
ZNF268	0	LGGM	GRCh37	12	133758547	133758547	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	7	.	.	ENST00000540096.2:c.459G>T	p.Leu153=	p.L153=	ENST00000540096		153	ctG/ctT	0	1		UPI000013C33E	0		ENST00000228289		ENSG00000090612	13061		18			HGNC	p.L153L		ZNF268		SNV							ENST00000416488	protein_coding							T		170/3543				Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN				ZNF268,synonymous_variant,p.=,ENST00000416488,;CTD-2140B24.4,synonymous_variant,p.=,ENST00000540096,;ZNF268,5_prime_UTR_variant,,ENST00000536435,NM_003415.2,NM_001165885.1;ZNF268,5_prime_UTR_variant,,ENST00000542986,;ZNF268,5_prime_UTR_variant,,ENST00000541009,NM_152943.2;ZNF268,5_prime_UTR_variant,,ENST00000228289,NM_001165882.2,NM_001165881.2;ZNF268,5_prime_UTR_variant,,ENST00000537565,;ZNF268,5_prime_UTR_variant,,ENST00000536899,NM_001165884.2;ZNF268,5_prime_UTR_variant,,ENST00000542711,NM_001165886.1;ZNF268,5_prime_UTR_variant,,ENST00000541211,;ZNF268,5_prime_UTR_variant,,ENST00000539248,NM_001165883.1;ZNF268,5_prime_UTR_variant,,ENST00000500625,;ZNF268,5_prime_UTR_variant,,ENST00000592241,NM_001165887.1;ZNF268,5_prime_UTR_variant,,ENST00000541975,;ZNF268,5_prime_UTR_variant,,ENST00000546126,;ZNF268,5_prime_UTR_variant,,ENST00000588312,;ZNF268,non_coding_transcript_exon_variant,,ENST00000537973,;							MODIFIER	-/2844		ZN268_HUMAN			Transcript			.	ENSP00000228289		CCDS45012.1			1	
MYSM1	0	LGGM	GRCh37	1	59127155	59127155	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	13	8	.	.	ENST00000472487.1:c.2193G>A	p.Gln731=	p.Q731=	ENST00000472487	NM_001085487.2	731	caG/caA	0	1	1	UPI0000204444	0		ENST00000472487		ENSG00000162601	29401		21			HGNC	p.Q731Q		MYSM1		SNV							ENST00000472487	protein_coding			hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF3		Q		T		2233/7785							YES	MYSM1,synonymous_variant,p.=,ENST00000472487,NM_001085487.2;MYSM1,non_coding_transcript_exon_variant,,ENST00000493821,;MYSM1,non_coding_transcript_exon_variant,,ENST00000401044,;							LOW	2193/2487		MYSM1_HUMAN			Transcript			.	ENSP00000418734		CCDS41343.1			1	
MYH11	0	LGGM	GRCh37	16	15841979	15841979	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	19	9	.	.	ENST00000396324.3:c.2126A>T	p.Asn709Ile	p.N709I	ENST00000396324	NM_001040114.1	709	aAt/aTt	0	1		UPI000012FB86	0	getma.org/pdb.php?prot=MYH11_HUMAN&from=87&to=771&var=N702I	ENST00000300036		ENSG00000133392	7569		28	4.29		HGNC	p.N709I		MYH11		SNV			1				ENST00000452625	protein_coding	getma.org/?cm=var&var=hg19,16,15841979,T,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540		N/I		A	high	2215/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=87&re=771&var=N702I		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Asn709Ile,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Asn709Ile,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Asn702Ile,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Asn702Ile,ENST00000300036,NM_002474.2;MYH11,downstream_gene_variant,,ENST00000570785,;							MODERATE	2105/5919	N702I	MYH11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000300036		CCDS10565.1			1	
FAT4	0	LGGM	GRCh37	4	126239387	126239387	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	10	10	.	.	ENST00000394329.3:c.1821A>C	p.Ala607=	p.A607=	ENST00000394329	NM_024582.4	607	gcA/gcC	0	1	1	UPI000155D6E3	0		ENST00000394329		ENSG00000196159	23109		20			HGNC	p.A607A		FAT4		SNV			1				ENST00000394329	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		A		C		1834/16123				B3KRB4_HUMAN			YES	FAT4,synonymous_variant,p.=,ENST00000394329,NM_024582.4;							LOW	1821/14946		FAT4_HUMAN			Transcript			.	ENSP00000377862		CCDS3732.3			1	
MRPL41	0	LGGM	GRCh37	9	140446828	140446828	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	10	10	.	.	ENST00000371443.5:c.295G>A	p.Ala99Thr	p.A99T	ENST00000371443	NM_032477.2	99	Gcc/Acc	0	1	1	UPI000007437B	0	NA	ENST00000371443		ENSG00000182154	14492		20	1.04		HGNC	p.A99T	rs751055106	MRPL41	0.000122	SNV							ENST00000371443	protein_coding	getma.org/?cm=var&var=hg19,9,140446828,G,A&fts=all		Pfam_domain:PF09809,hmmpanther:PTHR21338		A/T		A	low	1083/1262		getma.org/?cm=msa&ty=f&p=RM41_HUMAN&rb=13&re=127&var=A99T	deleterious(0.04)				YES	MRPL41,missense_variant,p.Ala99Thr,ENST00000371443,NM_032477.2;PNPLA7,upstream_gene_variant,,ENST00000406427,NM_001098537.1;PNPLA7,upstream_gene_variant,,ENST00000277531,NM_152286.3;PNPLA7,upstream_gene_variant,,ENST00000434090,;DPH7,downstream_gene_variant,,ENST00000277540,NM_138778.2;DPH7,downstream_gene_variant,,ENST00000479650,;DPH7,downstream_gene_variant,,ENST00000467243,;DPH7,downstream_gene_variant,,ENST00000497237,;							MODERATE	295/414	A99T	RM41_HUMAN			Transcript		benign(0.09)	.	ENSP00000360498	1.65E-05	CCDS7046.1			1	
NPEPL1	0	LGGM	GRCh37	20	57288515	57288515	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	10	10	.	.	ENST00000356091.6:c.1041G>T	p.Leu347=	p.L347=	ENST00000356091	NM_024663.3	347	ctG/ctT	0	1	1	UPI000036789E	0		ENST00000356091		ENSG00000215440	16244		20			HGNC	p.L299L		NPEPL1		SNV							ENST00000525817	protein_coding			hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,PROSITE_patterns:PS00631,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187,Prints_domain:PR00481		L		T		1329/2378				H0UI76_HUMAN			YES	NPEPL1,synonymous_variant,p.=,ENST00000356091,NM_024663.3;NPEPL1,synonymous_variant,p.=,ENST00000525967,NM_001204872.1;NPEPL1,synonymous_variant,p.=,ENST00000525817,NM_001204873.1;RP11-261P9.4,downstream_gene_variant,,ENST00000530479,;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,;NPEPL1,3_prime_UTR_variant,,ENST00000533788,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527081,;NPEPL1,upstream_gene_variant,,ENST00000532531,;NPEPL1,upstream_gene_variant,,ENST00000525068,;							LOW	1041/1572		PEPL1_HUMAN			Transcript			.	ENSP00000348395		CCDS46621.1			1	
CEL	0	LGGM	GRCh37	9	135940099	135940099	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	14	11	.	.	ENST00000372080.4:c.299A>T	p.Asp100Val	p.D100V	ENST00000372080	NM_001807.4	100	gAt/gTt	0	1	1	UPI000013E8C6	0	getma.org/pdb.php?prot=CEL_HUMAN&from=1&to=542&var=D97V	ENST00000372080		ENSG00000170835	1848		25	1.77		HGNC	p.D100V		CEL		SNV			1				ENST00000372080	protein_coding	getma.org/?cm=var&var=hg19,9,135940099,A,T&fts=all		Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF139		D/V		T	low	315/2384		getma.org/?cm=msa&ty=f&p=CEL_HUMAN&rb=1&re=542&var=D97V	deleterious(0.02)	Q9UMB1_HUMAN			YES	CEL,missense_variant,p.Asp100Val,ENST00000372080,NM_001807.4;CEL,missense_variant,p.Asp97Val,ENST00000351304,;							MODERATE	299/2271	D97V				Transcript		benign(0.06)	.	ENSP00000361151		CCDS43896.1			1	
KLRG1	0	LGGM	GRCh37	12	9161598	9161598	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	11	.	.	ENST00000356986.3:c.385G>A	p.Ala129Thr	p.A129T	ENST00000356986		129	Gcc/Acc	0	1		UPI000007378E	0	getma.org/pdb.php?prot=KLRG1_HUMAN&from=92&to=186&var=A129T	ENST00000266551		ENSG00000139187	6380		22	0.715		HGNC	p.A50T	rs745819029	KLRG1		SNV							ENST00000543895	protein_coding	getma.org/?cm=var&var=hg19,12,9161598,G,A&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF8,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436		A/T		A	neutral	400/1335	4.50E-05	getma.org/?cm=msa&ty=f&p=KLRG1_HUMAN&rb=92&re=186&var=A129T	tolerated(0.53)	F5H8E3_HUMAN,F5H207_HUMAN				KLRG1,missense_variant,p.Ala129Thr,ENST00000266551,NM_005810.3;KLRG1,missense_variant,p.Ala129Thr,ENST00000356986,;KLRG1,missense_variant,p.Ala50Thr,ENST00000539240,;KLRG1,missense_variant,p.Ala50Thr,ENST00000543895,;KLRG1,non_coding_transcript_exon_variant,,ENST00000538029,;KLRG1,non_coding_transcript_exon_variant,,ENST00000544226,;							MODERATE	385/588	A129T	KLRG1_HUMAN			Transcript		benign(0.012)	.	ENSP00000266551	3.29E-05		0.0011		1	
HOXC5	0	LGGM	GRCh37	12	54428262	54428262	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	13	12	.	.	ENST00000312492.2:c.655A>C	p.Lys219Gln	p.K219Q	ENST00000312492	NM_018953.2	219	Aaa/Caa	0	1	1	UPI000012CF6F	0	getma.org/pdb.php?prot=HXC5_HUMAN&from=213&to=222&var=K219Q	ENST00000312492		ENSG00000172789	5127		25	0.67		HGNC	p.K219Q		HOXC5		SNV							ENST00000312492	protein_coding	getma.org/?cm=var&var=hg19,12,54428262,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF152,hmmpanther:PTHR24326		K/Q		C	neutral	925/1805		getma.org/?cm=msa&ty=f&p=HXC5_HUMAN&rb=183&re=222&var=K219Q	deleterious_low_confidence(0.02)				YES	HOXC5,missense_variant,p.Lys219Gln,ENST00000312492,NM_018953.2;RP11-834C11.12,missense_variant,p.Lys123Gln,ENST00000513209,;HOXC4,intron_variant,,ENST00000303406,NM_014620.4;HOXC6,downstream_gene_variant,,ENST00000394331,NM_153693.4;HOXC6,downstream_gene_variant,,ENST00000243108,NM_004503.3;HOXC6,downstream_gene_variant,,ENST00000509328,;MIR615,downstream_gene_variant,,ENST00000384839,;RP11-834C11.14,non_coding_transcript_exon_variant,,ENST00000512206,;HOXC4,upstream_gene_variant,,ENST00000507650,;							MODERATE	655/669	K219Q	HXC5_HUMAN			Transcript		possibly_damaging(0.788)	.	ENSP00000309336		CCDS8872.1			1	
CIITA	0	LGGM	GRCh37	16	10996609	10996609	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	23	12	.	.	ENST00000324288.8:c.723G>A	p.Trp241Ter	p.W241*	ENST00000324288	NM_000246.3	241	tgG/tgA	0	1	1	UPI0000456914	0	NA	ENST00000324288		ENSG00000179583	7067		35	0		HGNC	p.W192X	COSM702007	CIITA		SNV			1			1	ENST00000381835	protein_coding	getma.org/?cm=var&var=hg19,16,10996609,G,A&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104		W/*		A	NA	856/9438		NA		I3L2E5_HUMAN			YES	CIITA,stop_gained,p.Trp241Ter,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,stop_gained,p.Trp192Ter,ENST00000381835,NM_001286403.1;CIITA,downstream_gene_variant,,ENST00000576601,;CIITA,non_coding_transcript_exon_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,downstream_gene_variant,,ENST00000571186,;CIITA,downstream_gene_variant,,ENST00000571190,;					1		HIGH	723/3393	W241*	C2TA_HUMAN			Transcript			.	ENSP00000316328		CCDS10544.1			1	
CFTR	0	LGGM	GRCh37	7	117306966	117306966	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	43	12	.	.	ENST00000003084.6:c.4247T>C	p.Ile1416Thr	p.I1416T	ENST00000003084	NM_000492.3	1416	aTa/aCa	0	1	1	UPI000013C4D4	0	getma.org/pdb.php?prot=CFTR_HUMAN&from=1210&to=1443&var=I1416T	ENST00000003084		ENSG00000001626	1884		55	2.885		HGNC	p.I1355T		CFTR		SNV			1				ENST00000454343	protein_coding	getma.org/?cm=var&var=hg19,7,117306966,T,C&fts=all		Gene3D:3.40.50.300,Prints_domain:PR01851,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01271		I/T		C	medium	4379/6128		getma.org/?cm=msa&ty=f&p=CFTR_HUMAN&rb=1210&re=1443&var=I1416T	deleterious(0)	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			YES	CFTR,missense_variant,p.Ile1416Thr,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Ile1355Thr,ENST00000454343,;CFTR,missense_variant,p.Ile1386Thr,ENST00000426809,;CFTR,intron_variant,,ENST00000600166,;							MODERATE	4247/4443	I1416T	CFTR_HUMAN			Transcript		benign(0.051)	.	ENSP00000003084		CCDS5773.1			1	
OR51F5P	0	LGGM	GRCh37	11	4731245	4731245	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	26	12	.	.	ENST00000609912.1:n.447A>T		*149*	ENST00000609912				0	1	1		0		ENST00000609912		ENSG00000272634	31283		38			HGNC	p.A137A		OR51F5P		SNV							ENST00000357170	unprocessed_pseudogene							T		447/942							YES	MMP26,intron_variant,,ENST00000477339,;OR51F5P,non_coding_transcript_exon_variant,,ENST00000609912,;							MODIFIER						Transcript			.						1	
TMPRSS11B	0	LGGM	GRCh37	4	69094503	69094503	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	31	12	.	.	ENST00000332644.5:c.1046T>C	p.Met349Thr	p.M349T	ENST00000332644	NM_182502.3	349	aTg/aCg	0	1	1	UPI000013E249	0	getma.org/pdb.php?prot=TM11B_HUMAN&from=185&to=410&var=M349T	ENST00000332644		ENSG00000185873	25398		43	2.645		HGNC	p.M349T		TMPRSS11B		SNV							ENST00000332644	protein_coding	getma.org/?cm=var&var=hg19,4,69094503,A,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494		M/T		G	medium	1208/2671		getma.org/?cm=msa&ty=f&p=TM11B_HUMAN&rb=185&re=410&var=M349T	deleterious(0)				YES	TMPRSS11B,missense_variant,p.Met349Thr,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000510856,;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;RP11-646E20.6,upstream_gene_variant,,ENST00000514295,;							MODERATE	1046/1251	M349T	TM11B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000330475		CCDS3521.1			1	
HFM1	0	LGGM	GRCh37	1	91788510	91788510	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	15	12	.	.	ENST00000370425.3:c.2579A>C	p.Asn860Thr	p.N860T	ENST00000370425	NM_001017975.3	860	aAt/aCt	0	1	1	UPI0000F51F79	0	NA	ENST00000370425		ENSG00000162669	20193		27	2.08		HGNC	p.N92T		HFM1		SNV							ENST00000294696	protein_coding	getma.org/?cm=var&var=hg19,1,91788510,T,G&fts=all		Gene3D:2q0zX01,Pfam_domain:PF02889,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,SMART_domains:SM00973,Superfamily_domains:SSF158702		N/T		G	medium	2678/4931		getma.org/?cm=msa&ty=f&p=HFM1_HUMAN&rb=777&re=1092&var=N860T	deleterious(0.01)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN			YES	HFM1,missense_variant,p.Asn860Thr,ENST00000370425,NM_001017975.3;HFM1,missense_variant,p.Asn92Thr,ENST00000294696,;HFM1,missense_variant,p.Asn539Thr,ENST00000370424,;HFM1,missense_variant,p.Asn116Thr,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;HFM1,non_coding_transcript_exon_variant,,ENST00000497520,;							MODERATE	2579/4308	N860T	HFM1_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000359454		CCDS30769.2			1	
GRINA	0	LGGM	GRCh37	8	145066044	145066044	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	21	13	.	.	ENST00000313269.5:c.493-2A>T		p.X165_splice	ENST00000313269	NM_000837.1			0	1	1	UPI000015A99B	0		ENST00000313269		ENSG00000178719	4589		34			HGNC	-		GRINA		SNV							ENST00000313269	protein_coding							T		-/1968				E9PQF8_HUMAN,E9PPG3_HUMAN			YES	GRINA,splice_acceptor_variant,,ENST00000313269,NM_000837.1;GRINA,splice_acceptor_variant,,ENST00000395068,NM_001009184.1;GRINA,splice_acceptor_variant,,ENST00000529301,;GRINA,splice_acceptor_variant,,ENST00000534791,;GRINA,splice_acceptor_variant,,ENST00000527194,;PARP10,intron_variant,,ENST00000530478,;GRINA,intron_variant,,ENST00000533044,;PARP10,upstream_gene_variant,,ENST00000525879,;PARP10,upstream_gene_variant,,ENST00000528136,;PARP10,upstream_gene_variant,,ENST00000529842,;PARP10,upstream_gene_variant,,ENST00000528625,;PARP10,upstream_gene_variant,,ENST00000528914,;PARP10,upstream_gene_variant,,ENST00000531537,;PARP10,upstream_gene_variant,,ENST00000525486,;GRINA,downstream_gene_variant,,ENST00000530898,;PARP10,upstream_gene_variant,,ENST00000529311,;PARP10,upstream_gene_variant,,ENST00000531707,;PARP10,upstream_gene_variant,,ENST00000532311,;PARP10,upstream_gene_variant,,ENST00000534737,;PARP10,upstream_gene_variant,,ENST00000532660,;GRINA,splice_acceptor_variant,,ENST00000531992,;GRINA,non_coding_transcript_exon_variant,,ENST00000525513,;GRINA,upstream_gene_variant,,ENST00000533377,;							HIGH	493/1116		LFG1_HUMAN			Transcript			.	ENSP00000314380		CCDS34961.1			1	
ZNF256	0	LGGM	GRCh37	19	58455353	58455353	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	25	13	.	.	ENST00000282308.3:c.109T>C	p.Cys37Arg	p.C37R	ENST00000282308	NM_005773.2	37	Tgc/Cgc	0	1	1	UPI00001D69EC	0	getma.org/pdb.php?prot=ZN256_HUMAN&from=14&to=54&var=C37R	ENST00000282308		ENSG00000152454	13049		38	-0.28		HGNC	p.C37R		ZNF256		SNV							ENST00000282308	protein_coding	getma.org/?cm=var&var=hg19,19,58455353,A,G&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		C/R		G	neutral	306/2172		getma.org/?cm=msa&ty=f&p=ZN256_HUMAN&rb=14&re=54&var=C37R	tolerated(0.35)				YES	ZNF256,missense_variant,p.Cys37Arg,ENST00000282308,NM_005773.2;ZNF256,intron_variant,,ENST00000598928,;							MODERATE	109/1884	C37R	ZN256_HUMAN			Transcript		benign(0.001)	.	ENSP00000282308		CCDS12966.1			1	
LIN7C	0	LGGM	GRCh37	11	27528275	27528275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	22	13	.	.	ENST00000278193.2:c.25C>T	p.Arg9Trp	p.R9W	ENST00000278193	NM_018362.3	9	Cgg/Tgg	0	1	1	UPI000000BB45	0	getma.org/pdb.php?prot=LIN7C_HUMAN&from=1&to=12&var=R9W	ENST00000278193		ENSG00000148943	17789		35	1.1		HGNC	p.R9W	rs762989645	LIN7C		SNV							ENST00000278193	protein_coding	getma.org/?cm=var&var=hg19,11,27528275,G,A&fts=all		PIRSF_domain:PIRSF038039,hmmpanther:PTHR14063,Superfamily_domains:SSF101288		R/W		A	low	46/4688	1.50E-05	getma.org/?cm=msa&ty=f&p=LIN7C_HUMAN&rb=1&re=42&var=R9W	tolerated_low_confidence(0.18)				YES	LIN7C,missense_variant,p.Arg9Trp,ENST00000278193,NM_018362.3;LIN7C,missense_variant,p.Arg9Trp,ENST00000524596,;BDNF-AS,upstream_gene_variant,,ENST00000499008,;BDNF-AS,upstream_gene_variant,,ENST00000499568,;BDNF-AS,upstream_gene_variant,,ENST00000501176,;BDNF-AS,upstream_gene_variant,,ENST00000500662,;BDNF-AS,upstream_gene_variant,,ENST00000502161,;BDNF-AS,upstream_gene_variant,,ENST00000530686,;BDNF-AS,upstream_gene_variant,,ENST00000532965,;							MODERATE	25/594	R9W	LIN7C_HUMAN			Transcript		benign(0.328)	.	ENSP00000278193	8.24E-06	CCDS7864.1			1	
DPYS	0	LGGM	GRCh37	8	105441799	105441799	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	14	13	.	.	ENST00000351513.2:c.924C>T	p.Pro308=	p.P308=	ENST00000351513	NM_001385.2	308	ccC/ccT	0	1	1	UPI000012986F	0		ENST00000351513		ENSG00000147647	3013		27			HGNC	p.P308P	rs777678757	DPYS	6.06E-05	SNV			1				ENST00000351513	protein_coding			hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,Pfam_domain:PF01979,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556		P		A		1057/2127	1.50E-05						YES	DPYS,synonymous_variant,p.=,ENST00000351513,NM_001385.2;AP003471.2,downstream_gene_variant,,ENST00000410226,;DPYS,non_coding_transcript_exon_variant,,ENST00000519217,;							LOW	924/1560		DPYS_HUMAN			Transcript			.	ENSP00000276651	1.65E-05	CCDS6302.1			1	
LAMC2	0	LGGM	GRCh37	1	183204749	183204749	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	61	13	.	.	ENST00000264144.4:c.2340G>A	p.Arg780=	p.R780=	ENST00000264144	NM_005562.2	780	agG/agA	0	1	1	UPI000013D4CA	0		ENST00000264144		ENSG00000058085	6493		74			HGNC	p.R780R		LAMC2		SNV			1				ENST00000264144	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF79		R		A		2405/5147							YES	LAMC2,synonymous_variant,p.=,ENST00000264144,NM_005562.2;LAMC2,synonymous_variant,p.=,ENST00000493293,NM_018891.2;LAMC2,upstream_gene_variant,,ENST00000461729,;							LOW	2340/3582		LAMC2_HUMAN			Transcript			.	ENSP00000264144		CCDS1352.1			1	
FAAH	0	LGGM	GRCh37	1	46874779	46874779	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	14	13	.	.	ENST00000243167.8:c.1084C>T	p.Pro362Ser	p.P362S	ENST00000243167	NM_001441.2	362	Ccc/Tcc	0	1	1	UPI000013C9E7	0	getma.org/pdb.php?prot=FAAH1_HUMAN&from=95&to=562&var=P362S	ENST00000243167		ENSG00000117480	3553		27	2.2		HGNC	p.P362S		FAAH		SNV							ENST00000243167	protein_coding	getma.org/?cm=var&var=hg19,1,46874779,C,T&fts=all		hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF51,Gene3D:3.90.1300.10,Pfam_domain:PF01425,PIRSF_domain:PIRSF001221,Superfamily_domains:SSF75304		P/S		T	medium	1168/2094		getma.org/?cm=msa&ty=f&p=FAAH1_HUMAN&rb=95&re=562&var=P362S	deleterious(0.01)				YES	FAAH,missense_variant,p.Pro362Ser,ENST00000243167,NM_001441.2;FAAH,non_coding_transcript_exon_variant,,ENST00000493735,;FAAH,non_coding_transcript_exon_variant,,ENST00000484697,;FAAH,non_coding_transcript_exon_variant,,ENST00000489366,;FAAH,downstream_gene_variant,,ENST00000468718,;FAAH,upstream_gene_variant,,ENST00000493636,;							MODERATE	1084/1740	P362S	FAAH1_HUMAN			Transcript		possibly_damaging(0.684)	.	ENSP00000243167		CCDS535.1			1	
PZP	0	LGGM	GRCh37	12	9349622	9349622	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	19	14	.	.	ENST00000261336.2:c.853G>C	p.Glu285Gln	p.E285Q	ENST00000261336	NM_002864.2	285	Gaa/Caa	0	1	1	UPI000013D168	0	getma.org/pdb.php?prot=PZP_HUMAN&from=221&to=420&var=E285Q	ENST00000261336		ENSG00000126838	9750		33	1.245		HGNC	p.E154Q		PZP		SNV							ENST00000381997	protein_coding	getma.org/?cm=var&var=hg19,12,9349622,C,G&fts=all		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87		E/Q		G	low	882/4610		getma.org/?cm=msa&ty=f&p=PZP_HUMAN&rb=221&re=420&var=E285Q	deleterious(0.01)				YES	PZP,missense_variant,p.Glu285Gln,ENST00000261336,NM_002864.2;PZP,missense_variant,p.Glu154Gln,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;							MODERATE	853/4449	E285Q	PZP_HUMAN			Transcript		benign(0.098)	.	ENSP00000261336		CCDS8600.1			1	
NFE2L1	0	LGGM	GRCh37	17	46136740	46136740	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	10	14	.	.	ENST00000362042.3:c.2056G>T	p.Val686Leu	p.V686L	ENST00000362042	NM_003204.2	686	Gtg/Ttg	0	1	1	UPI000012FFCF	0	NA	ENST00000362042		ENSG00000082641	7781		24	1.7		HGNC	p.V675L		NFE2L1		SNV							ENST00000361665	protein_coding	getma.org/?cm=var&var=hg19,17,46136740,G,T&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411,Gene3D:1.20.5.170,Pfam_domain:PF03131,SMART_domains:SM00338		V/L		T	low	2672/4774		getma.org/?cm=msa&ty=f&p=NF2L1_HUMAN&rb=653&re=721&var=V686L	deleterious(0)	Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN			YES	NFE2L1,missense_variant,p.Val686Leu,ENST00000362042,NM_003204.2;NFE2L1,missense_variant,p.Val675Leu,ENST00000361665,;NFE2L1,missense_variant,p.Val656Leu,ENST00000357480,;NFE2L1,missense_variant,p.Val656Leu,ENST00000585291,;NFE2L1,missense_variant,p.Val530Leu,ENST00000536222,;NFE2L1,missense_variant,p.Val487Leu,ENST00000583378,;NFE2L1,missense_variant,p.Val498Leu,ENST00000582155,;NFE2L1,intron_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000584634,;NFE2L1,downstream_gene_variant,,ENST00000580037,;NFE2L1,downstream_gene_variant,,ENST00000577431,;NFE2L1,downstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000583210,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;							MODERATE	2056/2319	V686L	NF2L1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354855		CCDS11524.1			1	
ART1	0	LGGM	GRCh37	11	3681392	3681392	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	15	14	.	.	ENST00000250693.1:c.643G>A	p.Glu215Lys	p.E215K	ENST00000250693	NM_004314.2	215	Gag/Aag	0	1	1	UPI000013CCC8	0	getma.org/pdb.php?prot=NAR1_HUMAN&from=39&to=274&var=E215K	ENST00000250693		ENSG00000129744	723		29	1.005		HGNC	p.E215K	rs763183394	ART1		SNV							ENST00000250693	protein_coding	getma.org/?cm=var&var=hg19,11,3681392,G,A&fts=all		hmmpanther:PTHR10339:SF19,hmmpanther:PTHR10339,Gene3D:3.90.176.10,Pfam_domain:PF01129,Superfamily_domains:SSF56399		E/K		A	low	744/1312	1.52E-05	getma.org/?cm=msa&ty=f&p=NAR1_HUMAN&rb=39&re=274&var=E215K	tolerated(0.22)				YES	ART1,missense_variant,p.Glu215Lys,ENST00000250693,NM_004314.2;Y_RNA,downstream_gene_variant,,ENST00000364409,;ART1,downstream_gene_variant,,ENST00000529556,;							MODERATE	643/984	E215K	NAR1_HUMAN			Transcript		benign(0.023)	.	ENSP00000250693	8.24E-06	CCDS7744.1			1	
NAT10	0	LGGM	GRCh37	11	34158289	34158289	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	22	15	.	.	ENST00000257829.3:c.2129G>C	p.Gly710Ala	p.G710A	ENST00000257829	NM_024662.2	710	gGt/gCt	0	1	1	UPI000013CF8E	0	getma.org/pdb.php?prot=NAT10_HUMAN&from=528&to=753&var=G710A	ENST00000257829		ENSG00000135372	29830		37	2.7		HGNC	p.G710A	rs369326894	NAT10		SNV	C:0						ENST00000257829	protein_coding	getma.org/?cm=var&var=hg19,11,34158289,G,C&fts=all		Pfam_domain:PF13718,PROSITE_profiles:PS51186,hmmpanther:PTHR10925		G/A	C:0.0001	C	medium	2335/4002	1.50E-05	getma.org/?cm=msa&ty=f&p=NAT10_HUMAN&rb=528&re=753&var=G710A	deleterious(0)	E9PJN6_HUMAN,E7ESU4_HUMAN			YES	NAT10,missense_variant,p.Gly710Ala,ENST00000257829,NM_024662.2;NAT10,missense_variant,p.Gly638Ala,ENST00000531159,NM_001144030.1;NAT10,intron_variant,,ENST00000527971,;NAT10,upstream_gene_variant,,ENST00000530017,;							MODERATE	2129/3078	G710A	NAT10_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000257829	8.24E-06	CCDS7889.1			1	
CLASRP	0	LGGM	GRCh37	19	45559736	45559736	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	15	.	.	ENST00000221455.3:c.408C>T	p.Ile136=	p.I136=	ENST00000221455	NM_007056.2	136	atC/atT	0	1	1	UPI000020262D	0		ENST00000221455		ENSG00000104859	17731		26			HGNC	p.S43F		CLASRP		SNV							ENST00000591410	protein_coding			Pfam_domain:PF09750,hmmpanther:PTHR13161,hmmpanther:PTHR13161:SF4		I		T		506/2234				K7EKC9_HUMAN			YES	CLASRP,synonymous_variant,p.=,ENST00000544944,;CLASRP,synonymous_variant,p.=,ENST00000221455,NM_007056.2;CLASRP,synonymous_variant,p.=,ENST00000391953,NM_001278439.1;CLASRP,downstream_gene_variant,,ENST00000588936,;CLASRP,missense_variant,p.Ser43Phe,ENST00000591410,;CLASRP,synonymous_variant,p.=,ENST00000391952,;CLASRP,synonymous_variant,p.=,ENST00000587112,;CLASRP,non_coding_transcript_exon_variant,,ENST00000588016,;CLASRP,downstream_gene_variant,,ENST00000592056,;							LOW	408/2025		CLASR_HUMAN			Transcript			.	ENSP00000221455		CCDS12652.2			1	
AP3B2	0	LGGM	GRCh37	15	83332594	83332594	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	17	16	.	.	ENST00000261722.3:c.2338G>T	p.Glu780Ter	p.E780*	ENST00000261722	NM_004644.4	780	Gag/Tag	0	1	1	UPI0000125030	0	NA	ENST00000261722		ENSG00000103723	567		33	0		HGNC	p.E780X		AP3B2		SNV							ENST00000261722	protein_coding	getma.org/?cm=var&var=hg19,15,83332594,C,A&fts=all		PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Low_complexity_(Seg):seg		E/*		A	NA	2546/3736		NA		F5GWU4_HUMAN			YES	AP3B2,stop_gained,p.Glu780Ter,ENST00000261722,NM_004644.4;AP3B2,stop_gained,p.Glu799Ter,ENST00000535359,NM_001278512.1;AP3B2,stop_gained,p.Glu748Ter,ENST00000535348,NM_001278511.1;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,upstream_gene_variant,,ENST00000537735,;AP3B2,upstream_gene_variant,,ENST00000545315,;AP3B2,upstream_gene_variant,,ENST00000538592,;							HIGH	2338/3249	E780*	AP3B2_HUMAN			Transcript			.	ENSP00000261722		CCDS45331.1			1	
ZNF550	0	LGGM	GRCh37	19	58059360	58059360	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	47	16	.	.	ENST00000506609.2:c.129T>C	p.Gly43=	p.G43=	ENST00000506609		43	ggT/ggC	0	1		UPI0000D720F6	0		ENST00000325134		ENSG00000251369	28643		63			HGNC	p.G43G		ZNF550		SNV							ENST00000506609	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF140,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		G		G		313/3599								ZNF550,splice_region_variant,p.=,ENST00000325134,;ZNF550,splice_region_variant,p.=,ENST00000457177,NM_001277090.1,NM_001277093.1,NM_001277092.1,NM_001277091.1;ZNF550,splice_region_variant,p.=,ENST00000506609,;ZNF550,coding_sequence_variant,p.=,ENST00000344222,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,splice_region_variant,p.=,ENST00000447310,;ZNF550,splice_region_variant,p.=,ENST00000376230,;							LOW	156/1173		ZN550_HUMAN			Transcript			.	ENSP00000446224					1	
TRPC4AP	0	LGGM	GRCh37	20	33594261	33594261	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	25	16	.	.	ENST00000252015.2:c.1804A>G	p.Lys602Glu	p.K602E	ENST00000252015		602	Aaa/Gaa	0	1	1	UPI000004FADD	0	NA	ENST00000252015		ENSG00000100991	16181		41	1.7		HGNC	p.K204E		TRPC4AP		SNV							ENST00000539834	protein_coding	getma.org/?cm=var&var=hg19,20,33594261,T,C&fts=all		Pfam_domain:PF12463,hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Superfamily_domains:SSF48371		K/E		C	low	1894/3226		getma.org/?cm=msa&ty=f&p=TP4AP_HUMAN&rb=407&re=718&var=K602E	tolerated(0.18)				YES	TRPC4AP,missense_variant,p.Lys602Glu,ENST00000252015,;TRPC4AP,missense_variant,p.Lys594Glu,ENST00000451813,NM_015638.2,NM_199368.1;TRPC4AP,missense_variant,p.Lys563Glu,ENST00000432634,;TRPC4AP,missense_variant,p.Lys204Glu,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,;							MODERATE	1804/2394	K602E	TP4AP_HUMAN			Transcript		benign(0.306)	.	ENSP00000252015		CCDS13246.1			1	
DOCK6	0	LGGM	GRCh37	19	11312784	11312784	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	20	17	.	.	ENST00000294618.7:c.5469G>T	p.Thr1823=	p.T1823=	ENST00000294618	NM_020812.3	1823	acG/acT	0	1	1	UPI000059D66F	0		ENST00000294618		ENSG00000130158	19189		37			HGNC	p.T1823T		DOCK6		SNV			1				ENST00000294618	protein_coding			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65,PROSITE_profiles:PS51651		T		A		5481/6358							YES	DOCK6,synonymous_variant,p.=,ENST00000294618,NM_020812.3;DOCK6,synonymous_variant,p.=,ENST00000319867,;DOCK6,synonymous_variant,p.=,ENST00000587656,;DOCK6,synonymous_variant,p.=,ENST00000588666,;KANK2,upstream_gene_variant,,ENST00000432929,NM_001136191.2;KANK2,upstream_gene_variant,,ENST00000586659,;KANK2,upstream_gene_variant,,ENST00000589359,;KANK2,upstream_gene_variant,,ENST00000592903,;KANK2,upstream_gene_variant,,ENST00000588724,;DOCK6,upstream_gene_variant,,ENST00000587734,;CTC-510F12.2,upstream_gene_variant,,ENST00000588634,;DOCK6,non_coding_transcript_exon_variant,,ENST00000586702,;DOCK6,downstream_gene_variant,,ENST00000592463,;KANK2,upstream_gene_variant,,ENST00000590400,;KANK2,upstream_gene_variant,,ENST00000589427,;							LOW	5469/6144		DOCK6_HUMAN			Transcript			.	ENSP00000294618		CCDS45975.1			1	
INO80D	0	LGGM	GRCh37	2	206921504	206921504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	42	17	.	.	ENST00000403263.1:c.382G>A	p.Gly128Arg	p.G128R	ENST00000403263	NM_017759.4	128	Gga/Aga	0	1	1	UPI0000EE35FC	0	NA	ENST00000403263		ENSG00000114933	25997		59	0.345		HGNC	p.G23R		INO80D		SNV							ENST00000424117	protein_coding	getma.org/?cm=var&var=hg19,2,206921504,C,T&fts=all		hmmpanther:PTHR16198		G/R		T	neutral	787/14136		getma.org/?cm=msa&ty=f&p=IN80D_HUMAN&rb=81&re=280&var=G128R	tolerated_low_confidence(0.2)	C9JLZ4_HUMAN,C9JLV2_HUMAN			YES	INO80D,missense_variant,p.Gly128Arg,ENST00000403263,NM_017759.4;INO80D,missense_variant,p.Gly23Arg,ENST00000424117,;							MODERATE	382/3084	G128R	IN80D_HUMAN			Transcript		possibly_damaging(0.509)	.	ENSP00000384198		CCDS46500.1			1	
SLITRK6	0	LGGM	GRCh37	13	86368122	86368122	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	40	17	.	.	ENST00000400286.2:c.2522C>T	p.Thr841Ile	p.T841I	ENST00000400286	NM_032229.2	841	aCa/aTa	0	1	1	UPI000004C9D6	0	NA	ENST00000400286		ENSG00000184564	23503		57	2.125		HGNC	p.T841I		SLITRK6		SNV			1				ENST00000400286	protein_coding	getma.org/?cm=var&var=hg19,13,86368122,G,A&fts=all		hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373		T/I		A	medium	3121/4318		getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=810&re=841&var=T841I	deleterious(0)				YES	SLITRK6,missense_variant,p.Thr841Ile,ENST00000400286,NM_032229.2;							MODERATE	2522/2526	T841I	SLIK6_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000383143		CCDS41903.1			1	
EEF1A1	0	LGGM	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	26	18	.	.	ENST00000316292.9:c.1294A>T	p.Thr432Ser	p.T432S	ENST00000316292	NM_001402.5	432	Aca/Tca	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=333&to=442&var=T432S	ENST00000309268		ENSG00000156508	3189		44	3.62		HGNC	p.T432S	COSM3162419	EEF1A1		SNV						1	ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74227628,T,A&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Pfam_domain:PF03143,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF50465		T/S		A	high	1913/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=333&re=442&var=T432S	deleterious_low_confidence(0)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,missense_variant,p.Thr432Ser,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Thr432Ser,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ser,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,;					1		MODERATE	1294/1389	T432S	EF1A1_HUMAN			Transcript		benign(0.007)	.	ENSP00000339053		CCDS4980.1			1	
OR6C68	0	LGGM	GRCh37	12	55886973	55886973	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	25	18	.	.	ENST00000548615.1:c.812G>C	p.Gly271Ala	p.G271A	ENST00000548615	NM_001005519.2	271	gGt/gCt	0	1	1	UPI00015E1642	0	NA	ENST00000548615		ENSG00000205327	31297		43	1.115		HGNC	p.G276A		OR6C68		SNV							ENST00000379662	protein_coding	getma.org/?cm=var&var=hg19,12,55886973,G,C&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF19,hmmpanther:PTHR26454,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		G/A		C	low	812/939		getma.org/?cm=msa&ty=f&p=O6C68_HUMAN&rb=137&re=281&var=G271A	tolerated_low_confidence(0.22)				YES	OR6C68,missense_variant,p.Gly276Ala,ENST00000379662,;OR6C68,missense_variant,p.Gly271Ala,ENST00000548615,NM_001005519.2;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;RP11-110A12.2,upstream_gene_variant,,ENST00000554049,;							MODERATE	812/939	G271A	O6C68_HUMAN			Transcript		benign(0.243)	.	ENSP00000448811		CCDS31826.2			1	
EEF1A1	0	LGGM	GRCh37	6	74227627	74227627	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	26	18	.	.	ENST00000316292.9:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000316292	NM_001402.5	432	aCa/aTa	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=333&to=442&var=T432I	ENST00000309268		ENSG00000156508	3189		44	4.375		HGNC	p.T432I	COSM2151856	EEF1A1		SNV						1	ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74227627,G,A&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Pfam_domain:PF03143,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF50465		T/I		A	high	1914/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=333&re=442&var=T432I	deleterious_low_confidence(0.03)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				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,;					1		MODERATE	1295/1389	T432I	EF1A1_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000339053		CCDS4980.1			1	
N4BP3	0	LGGM	GRCh37	5	177546897	177546897	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	20	19	.	.	ENST00000274605.5:c.313C>A	p.Arg105=	p.R105=	ENST00000274605	NM_015111.1	105	Cgg/Agg	0	1	1	UPI00001C1E2A	0		ENST00000274605		ENSG00000145911	29852		39			HGNC	p.R105R		N4BP3		SNV							ENST00000274605	protein_coding			hmmpanther:PTHR32274		R		A		672/6080							YES	N4BP3,synonymous_variant,p.=,ENST00000274605,NM_015111.1;							LOW	313/1635		N4BP3_HUMAN			Transcript			.	ENSP00000274605		CCDS34307.1			1	
SMARCAD1	0	LGGM	GRCh37	4	95170818	95170818	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	29	20	.	.	ENST00000359052.4:c.719A>C	p.Asn240Thr	p.N240T	ENST00000359052	NM_001128430.1	240	aAt/aCt	0	1		UPI000013E22F	0	NA	ENST00000354268		ENSG00000163104	18398		49	0.895		HGNC	p.N240T		SMARCAD1		SNV			1				ENST00000359052	protein_coding	getma.org/?cm=var&var=hg19,4,95170818,A,C&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF271,Low_complexity_(Seg):seg		N/T		C	low	792/4912		getma.org/?cm=msa&ty=f&p=SMRCD_HUMAN&rb=201&re=400&var=N240T	tolerated(0.48)					SMARCAD1,missense_variant,p.Asn240Thr,ENST00000359052,NM_001128430.1;SMARCAD1,missense_variant,p.Asn240Thr,ENST00000354268,;SMARCAD1,missense_variant,p.Asn240Thr,ENST00000457823,NM_001128429.2,NM_020159.4;SMARCAD1,upstream_gene_variant,,ENST00000509418,NM_001254949.1;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;SMARCAD1,3_prime_UTR_variant,,ENST00000510105,;							MODERATE	719/3081	N240T	SMRCD_HUMAN			Transcript		benign(0.002)	.	ENSP00000346217		CCDS3639.1			1	
TPGS2	0	LGGM	GRCh37	18	34376977	34376977	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	36	21	.	.	ENST00000334295.4:c.694A>G	p.Thr232Ala	p.T232A	ENST00000334295	NM_001271949.1	232	Aca/Gca	0	1	1	UPI0000201C11	0	NA	ENST00000334295		ENSG00000134779	24561		57	1.6		HGNC	p.T197A		TPGS2		SNV							ENST00000593035	protein_coding	getma.org/?cm=var&var=hg19,18,34376977,T,C&fts=all		hmmpanther:PTHR31854		T/A		C	low	1122/4030		getma.org/?cm=msa&ty=f&p=TPGS2_HUMAN&rb=1&re=298&var=T232A	tolerated(0.16)				YES	TPGS2,missense_variant,p.Thr232Ala,ENST00000334295,NM_001271949.1,NM_015476.3,NM_001271950.1;TPGS2,missense_variant,p.Thr197Ala,ENST00000593035,;TPGS2,missense_variant,p.Thr189Ala,ENST00000383056,;TPGS2,intron_variant,,ENST00000587382,;TPGS2,intron_variant,,ENST00000590842,NM_001271953.1,NM_001271951.1;TPGS2,intron_variant,,ENST00000591906,;TPGS2,intron_variant,,ENST00000587129,;TPGS2,downstream_gene_variant,,ENST00000589049,NM_001271954.1,NM_001271952.1;TPGS2,non_coding_transcript_exon_variant,,ENST00000590500,;TPGS2,intron_variant,,ENST00000590652,;TPGS2,intron_variant,,ENST00000590258,;TPGS2,downstream_gene_variant,,ENST00000585635,;TPGS2,downstream_gene_variant,,ENST00000591823,;TPGS2,downstream_gene_variant,,ENST00000590692,;							MODERATE	694/903	T232A	TPGS2_HUMAN			Transcript		benign(0.026)	.	ENSP00000335144		CCDS32817.1			1	
SORBS2	0	LGGM	GRCh37	4	186559243	186559243	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	26	21	.	.	ENST00000355634.5:c.985-7491T>G		*329*	ENST00000355634	NM_001270771.1			0	1		UPI0000070F00	0	NA	ENST00000284776		ENSG00000154556	24098		47	1.495		HGNC	p.F299C		SORBS2		SNV							ENST00000393528	protein_coding	getma.org/?cm=var&var=hg19,4,186559243,A,C&fts=all						C	low	-/5996		getma.org/?cm=msa&ty=f&p=G3XAI0_HUMAN&rb=201&re=400&var=F299C		C9JL62_HUMAN,C9JBR8_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9IZ89_HUMAN				SORBS2,missense_variant,p.Phe299Cys,ENST00000393528,NM_003603.6;SORBS2,intron_variant,,ENST00000431808,;SORBS2,intron_variant,,ENST00000284776,NM_021069.4;SORBS2,intron_variant,,ENST00000418609,NM_001145674.1,NM_001145675.1;SORBS2,intron_variant,,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,,ENST00000319471,NM_001145671.2;SORBS2,intron_variant,,ENST00000319454,;SORBS2,intron_variant,,ENST00000451974,;SORBS2,intron_variant,,ENST00000438278,;SORBS2,intron_variant,,ENST00000445625,;SORBS2,intron_variant,,ENST00000498125,;SORBS2,intron_variant,,ENST00000487836,;SORBS2,intron_variant,,ENST00000490562,;SORBS2,intron_variant,,ENST00000495932,;SORBS2,downstream_gene_variant,,ENST00000492104,;							MODIFIER	-/3303	F299C	SRBS2_HUMAN			Transcript			.	ENSP00000284776		CCDS3845.1			1	
PKP2	0	LGGM	GRCh37	12	32975499	32975499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	22	23	.	.	ENST00000070846.6:c.1873A>G	p.Lys625Glu	p.K625E	ENST00000070846	NM_004572.3	625	Aaa/Gaa	0	1	1	UPI000013C576	0	NA	ENST00000070846		ENSG00000057294	9024		45	1.04		HGNC	p.K581E		PKP2		SNV			1				ENST00000340811	protein_coding	getma.org/?cm=var&var=hg19,12,32975499,T,C&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Superfamily_domains:SSF48371		K/E		C	low	1898/4241		getma.org/?cm=msa&ty=f&p=PKP2_HUMAN&rb=625&re=824&var=K625E	deleterious(0.04)				YES	PKP2,missense_variant,p.Lys581Glu,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Lys625Glu,ENST00000070846,NM_004572.3;PKP2,non_coding_transcript_exon_variant,,ENST00000552612,;PKP2,non_coding_transcript_exon_variant,,ENST00000546498,;PKP2,upstream_gene_variant,,ENST00000549461,;							MODERATE	1873/2646	K625E	PKP2_HUMAN			Transcript		benign(0.044)	.	ENSP00000070846		CCDS8731.1			1	
ATP13A3	0	LGGM	GRCh37	3	194181496	194181496	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	51	23	.	.	ENST00000439040.1:c.116C>G	p.Ser39Cys	p.S39C	ENST00000439040		39	tCt/tGt	0	1		UPI000049DFC3	0	NA	ENST00000256031		ENSG00000133657	24113		74	1.955		HGNC	p.S39C		ATP13A3		SNV							ENST00000457986	protein_coding	getma.org/?cm=var&var=hg19,3,194181496,G,C&fts=all		Pfam_domain:PF12409,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,TIGRFAM_domain:TIGR01657,Transmembrane_helices:TMhelix		S/C		C	medium	518/7322		getma.org/?cm=msa&ty=f&p=AT133_HUMAN&rb=13&re=143&var=S39C	deleterious(0)	C9JAP7_HUMAN,C9J7Z7_HUMAN				ATP13A3,missense_variant,p.Ser39Cys,ENST00000439040,;ATP13A3,missense_variant,p.Ser39Cys,ENST00000256031,NM_024524.3;ATP13A3,missense_variant,p.Ser39Cys,ENST00000446356,;ATP13A3,missense_variant,p.Ser39Cys,ENST00000457986,;ATP13A3,upstream_gene_variant,,ENST00000492983,;							MODERATE	116/3681	S39C	AT133_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000256031		CCDS43187.1			1	
SLFN5	0	LGGM	GRCh37	17	33585859	33585859	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	30	23	.	.	ENST00000299977.4:c.150G>A	p.Leu50=	p.L50=	ENST00000299977	NM_144975.3	50	ctG/ctA	0	1	1	UPI0000237686	0		ENST00000299977		ENSG00000166750	28286		53			HGNC	p.L50L		SLFN5		SNV							ENST00000542451	protein_coding			hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26		L		A		298/10591							YES	SLFN5,synonymous_variant,p.=,ENST00000299977,NM_144975.3;SLFN5,synonymous_variant,p.=,ENST00000542451,;SLFN5,synonymous_variant,p.=,ENST00000592325,;							LOW	150/2676		SLFN5_HUMAN			Transcript			.	ENSP00000299977		CCDS32619.1			1	
OGFOD1	0	LGGM	GRCh37	16	56504598	56504598	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	23	.	.	ENST00000566157.1:c.1180C>T	p.His394Tyr	p.H394Y	ENST00000566157	NM_018233.3	394	Cat/Tat	0	1	1	UPI0000049DA2	0	NA	ENST00000566157		ENSG00000087263	25585		34	1.39		HGNC	p.H394Y		OGFOD1		SNV							ENST00000566157	protein_coding	getma.org/?cm=var&var=hg19,16,56504598,C,T&fts=all		hmmpanther:PTHR12117,Pfam_domain:PF10637		H/Y		T	low	1303/4647		getma.org/?cm=msa&ty=f&p=OGFD1_HUMAN&rb=261&re=525&var=H394Y	tolerated(0.31)	H3BUA6_HUMAN,H3BP48_HUMAN			YES	OGFOD1,missense_variant,p.His394Tyr,ENST00000566157,NM_018233.3;OGFOD1,missense_variant,p.His351Tyr,ENST00000568397,;BBS2,intron_variant,,ENST00000564459,;BBS2,intron_variant,,ENST00000564123,;OGFOD1,downstream_gene_variant,,ENST00000562150,;OGFOD1,downstream_gene_variant,,ENST00000561646,;OGFOD1,downstream_gene_variant,,ENST00000565209,;OGFOD1,downstream_gene_variant,,ENST00000568172,;OGFOD1,3_prime_UTR_variant,,ENST00000336111,;OGFOD1,downstream_gene_variant,,ENST00000569802,;							MODERATE	1180/1629	H394Y	OGFD1_HUMAN			Transcript		benign(0.005)	.	ENSP00000457258		CCDS10761.2			1	
CALCRL	0	LGGM	GRCh37	2	188247995	188247995	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	48	25	.	.	ENST00000409998.1:c.89A>G	p.Asp30Gly	p.D30G	ENST00000409998		30	gAc/gGc	0	1		UPI000013D4CD	0	getma.org/pdb.php?prot=CALRL_HUMAN&from=1&to=61&var=D30G	ENST00000392370		ENSG00000064989	16709		73	0.895		HGNC	p.D30G		CALCRL		SNV							ENST00000392370	protein_coding	getma.org/?cm=var&var=hg19,2,188247995,T,C&fts=all		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67		D/G		C	low	803/5155		getma.org/?cm=msa&ty=f&p=CALRL_HUMAN&rb=1&re=61&var=D30G	tolerated(0.2)	E7EN01_HUMAN,B8ZZJ4_HUMAN				CALCRL,missense_variant,p.Asp30Gly,ENST00000409998,;CALCRL,missense_variant,p.Asp30Gly,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Asp30Gly,ENST00000410068,NM_001271751.1;CALCRL,missense_variant,p.Asp30Gly,ENST00000447403,;CALCRL,missense_variant,p.Asp30Gly,ENST00000410102,;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;CALCRL,downstream_gene_variant,,ENST00000474212,;CALCRL,downstream_gene_variant,,ENST00000461244,;CALCRL,downstream_gene_variant,,ENST00000485973,;							MODERATE	89/1386	D30G	CALRL_HUMAN			Transcript		benign(0)	.	ENSP00000376177		CCDS2293.1			1	
MUC2	0	LGGM	GRCh37	11	1093627	1093627	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	39	26	.	.	ENST00000441003.2:c.5446A>G	p.Ile1816Val	p.I1816V	ENST00000441003	NM_002457.2	1816	Atc/Gtc	0	1	1	UPI00006C10F2	0		ENST00000441003		ENSG00000198788	7512		65			HGNC	p.I104V		MUC2		SNV							ENST00000333592	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261		I/V		G		5473/8637				Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Ile1816Val,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Ile1772Val,ENST00000359061,;MUC2,missense_variant,p.Ile104Val,ENST00000333592,;MUC2,intron_variant,,ENST00000361558,;							MODERATE	5446/8454					Transcript		unknown(0)	.	ENSP00000415183					1	
C1R	0	LGGM	GRCh37	12	7188238	7188238	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	27	27	.	.	ENST00000542285.1:c.1560C>T	p.Asn520=	p.N520=	ENST00000542285		520	aaC/aaT	0	1	1	UPI00020653A8	0		ENST00000542285		ENSG00000159403	1246		54			HGNC	p.N535N		C1R		SNV			1				ENST00000290575	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF78,SMART_domains:SM00020,Superfamily_domains:SSF50494		N		A		1710/2112				H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN			YES	C1R,synonymous_variant,p.=,ENST00000542285,;C1R,synonymous_variant,p.=,ENST00000602480,NM_001733.4;C1R,synonymous_variant,p.=,ENST00000602286,;							LOW	1560/1962					Transcript			.	ENSP00000438615					1	
NNT	0	LGGM	GRCh37	5	43615989	43615989	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	43	27	.	.	ENST00000264663.5:c.421G>T	p.Glu141Ter	p.E141*	ENST00000264663	NM_012343.3	141	Gaa/Taa	0	1	1	UPI000013D54F	0	NA	ENST00000264663		ENSG00000112992	7863		70	0		HGNC	p.E141X		NNT		SNV			1				ENST00000344920	protein_coding	getma.org/?cm=var&var=hg19,5,43615989,G,T&fts=all		hmmpanther:PTHR10160,hmmpanther:PTHR10160:SF22,Gene3D:3.40.50.1770,Pfam_domain:PF05222,TIGRFAM_domain:TIGR00561,SMART_domains:SM01003,Superfamily_domains:SSF52283		E/*		T	NA	642/6483		NA		E9PCX7_HUMAN,D6RHU2_HUMAN,D6RCR6_HUMAN,D6RAI5_HUMAN			YES	NNT,stop_gained,p.Glu141Ter,ENST00000264663,NM_012343.3;NNT,stop_gained,p.Glu141Ter,ENST00000344920,NM_182977.2;NNT,stop_gained,p.Glu10Ter,ENST00000512996,;NNT,stop_gained,p.Glu141Ter,ENST00000512422,;NNT,stop_gained,p.Glu10Ter,ENST00000515208,;NNT,stop_gained,p.Glu141Ter,ENST00000505678,;							HIGH	421/3261	E141*	NNTM_HUMAN			Transcript			.	ENSP00000264663		CCDS3949.1			1	
NECAP1	0	LGGM	GRCh37	12	8242832	8242832	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	39	27	.	.	ENST00000339754.5:c.238A>G	p.Ile80Val	p.I80V	ENST00000339754	NM_015509.3	80	Att/Gtt	0	1	1	UPI000006EB8D	0	getma.org/pdb.php?prot=NECP1_HUMAN&from=6&to=165&var=I80V	ENST00000339754		ENSG00000089818	24539		66	0.695		HGNC	p.I80V		NECAP1		SNV			1				ENST00000450991	protein_coding	getma.org/?cm=var&var=hg19,12,8242832,A,G&fts=all		hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1,Pfam_domain:PF07933,Gene3D:2.30.29.30,Superfamily_domains:SSF50729		I/V		G	neutral	316/2587		getma.org/?cm=msa&ty=f&p=NECP1_HUMAN&rb=6&re=165&var=I80V	tolerated(0.35)	F5H2U7_HUMAN,A8K3C2_HUMAN			YES	NECAP1,missense_variant,p.Ile80Val,ENST00000339754,NM_015509.3;NECAP1,5_prime_UTR_variant,,ENST00000540083,;NECAP1,missense_variant,p.Ile80Val,ENST00000450991,;NECAP1,missense_variant,p.Ile80Val,ENST00000541948,;NECAP1,non_coding_transcript_exon_variant,,ENST00000545807,;NECAP1,non_coding_transcript_exon_variant,,ENST00000544891,;NECAP1,non_coding_transcript_exon_variant,,ENST00000546181,;NECAP1,non_coding_transcript_exon_variant,,ENST00000542095,;NECAP1,upstream_gene_variant,,ENST00000537796,;							MODERATE	238/828	I80V	NECP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000341737		CCDS8589.1			1	
FAM221A	0	LGGM	GRCh37	7	23740417	23740417	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	49	29	.	.	ENST00000344962.4:c.758G>T	p.Ser253Ile	p.S253I	ENST00000344962	NM_199136.3	253	aGt/aTt	0	1	1	UPI0000199810	0	NA	ENST00000344962		ENSG00000188732	27977		78	1.7		HGNC	p.S159I		FAM221A		SNV							ENST00000409994	protein_coding	getma.org/?cm=var&var=hg19,7,23740417,G,T&fts=all		hmmpanther:PTHR31214		S/I		T	low	847/1472		getma.org/?cm=msa&ty=f&p=F221A_HUMAN&rb=201&re=298&var=S253I	tolerated(0.16)				YES	FAM221A,missense_variant,p.Ser253Ile,ENST00000344962,NM_199136.3;FAM221A,missense_variant,p.Ser159Ile,ENST00000409994,NM_001127365.1;FAM221A,missense_variant,p.Ser217Ile,ENST00000409192,NM_001127364.1;FAM221A,missense_variant,p.Ser195Ile,ENST00000409653,;FAM221A,non_coding_transcript_exon_variant,,ENST00000483090,;FAM221A,3_prime_UTR_variant,,ENST00000429719,;FAM221A,non_coding_transcript_exon_variant,,ENST00000462546,;							MODERATE	758/897	S253I	F221A_HUMAN			Transcript		benign(0.007)	.	ENSP00000342576		CCDS5385.1			1	
PTEN	0	LGGM	GRCh37	10	89685314	89685315	+	splice_donor_variant,coding_sequence_variant	Splice_Site	DEL	TG	TG	-	novel	by Submitter	H060417	H060417N.bam	TG	TG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	7	29	.	.	ENST00000371953.3:c.209+1_209+2del		p.X70_splice	ENST00000371953	NM_000314.4	70		0	1	1	UPI00001328C5	0		ENST00000371953		ENSG00000171862	9588		36			HGNC	p.70_70del	COSM921073	PTEN		deletion			1			1	ENST00000371953	protein_coding							-		1566-?/9027				F6KD01_HUMAN,H6WA51_HUMAN,H6WA46_HUMAN			YES	PTEN,splice_donor_variant,,ENST00000371953,NM_000314.4;PTEN,splice_donor_variant,,ENST00000498703,;					1		HIGH	209-?/1212		PTEN_HUMAN			Transcript	1		.	ENSP00000361021		CCDS31238.1			1	
SAMD4A	0	LGGM	GRCh37	14	55231224	55231224	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	49	30	.	.	ENST00000392067.3:c.1562A>T	p.Tyr521Phe	p.Y521F	ENST00000392067	NM_015589.5	521	tAt/tTt	0	1	1	UPI0000229786	0	NA	ENST00000392067		ENSG00000020577	23023		79	1.23		HGNC	p.Y520F		SAMD4A		SNV							ENST00000357634	protein_coding	getma.org/?cm=var&var=hg19,14,55231224,A,T&fts=all		hmmpanther:PTHR12515,Gene3D:1oxjA02		Y/F		T	low	1562/6528		getma.org/?cm=msa&ty=f&p=SMAG1_HUMAN&rb=382&re=581&var=Y521F	tolerated(0.19)	J3QSW1_HUMAN			YES	SAMD4A,missense_variant,p.Tyr433Phe,ENST00000251091,NM_001161576.2;SAMD4A,missense_variant,p.Tyr521Phe,ENST00000392067,NM_015589.5;SAMD4A,missense_variant,p.Tyr520Phe,ENST00000357634,;SAMD4A,missense_variant,p.Tyr521Phe,ENST00000554335,;SAMD4A,missense_variant,p.Tyr112Phe,ENST00000555192,NM_001161577.1;							MODERATE	1562/2157	Y521F	SMAG1_HUMAN			Transcript		benign(0.223)	.	ENSP00000375919		CCDS32084.2			1	
TTN	0	LGGM	GRCh37	2	179423347	179423347	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	61	30	.	.	ENST00000589042.1:c.86839G>A	p.Glu28947Lys	p.E28947K	ENST00000589042	NM_001267550.1	28947	Gaa/Aaa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=27303&to=27386&var=E27306K	ENST00000591111		ENSG00000155657	12403		91	0.19		HGNC	p.E20007K		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179423347,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		E/K		T	neutral	82141/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=27303&re=27386&var=E27306K		C9JQJ2_HUMAN				TTN,missense_variant,p.Glu28947Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu27306Lys,ENST00000591111,;TTN,missense_variant,p.Glu26379Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu20074Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu20007Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu19882Lys,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,;							MODERATE	81916/103053	E27306K	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FASTKD2	0	LGGM	GRCh37	2	207652711	207652711	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	35	31	.	.	ENST00000236980.6:c.1645C>G	p.Leu549Val	p.L549V	ENST00000236980	NM_014929.3	549	Ctt/Gtt	0	1	1	UPI0000073E9F	0	NA	ENST00000236980		ENSG00000118246	29160		66	1.895		HGNC	p.L549V		FASTKD2		SNV			1				ENST00000403094	protein_coding	getma.org/?cm=var&var=hg19,2,207652711,C,G&fts=all		Pfam_domain:PF08368,hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228		L/V		G	low	1993/3188		getma.org/?cm=msa&ty=f&p=FAKD2_HUMAN&rb=535&re=619&var=L549V	deleterious(0.03)	C9JPI6_HUMAN			YES	FASTKD2,missense_variant,p.Leu549Val,ENST00000236980,NM_014929.3;FASTKD2,missense_variant,p.Leu549Val,ENST00000402774,NM_001136194.1,NM_001136193.1;FASTKD2,missense_variant,p.Leu549Val,ENST00000403094,;MIR3130-1,downstream_gene_variant,,ENST00000579223,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000471788,;							MODERATE	1645/2133	L549V	FAKD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000236980		CCDS2371.1			1	
FAM20B	0	LGGM	GRCh37	1	179035941	179035941	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	15	32	.	.	ENST00000263733.4:c.945G>A	p.Gly315=	p.G315=	ENST00000263733	NM_014864.3	315	ggG/ggA	0	1	1	UPI000000DB7F	0		ENST00000263733		ENSG00000116199	23017		47			HGNC	p.G315G		FAM20B		SNV							ENST00000263733	protein_coding			Pfam_domain:PF06702,hmmpanther:PTHR12450		G		A		1281/5984							YES	FAM20B,synonymous_variant,p.=,ENST00000263733,NM_014864.3;							LOW	945/1230		XYLK_HUMAN			Transcript			.	ENSP00000263733		CCDS1328.1			1	
CADM1	0	LGGM	GRCh37	11	115047264	115047264	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	46	32	.	.	ENST00000452722.3:c.1259C>T	p.Ala420Val	p.A420V	ENST00000452722	NM_014333.3	420	gCa/gTa	0	1	1	UPI0000049C25	0	NA	ENST00000452722		ENSG00000182985	5951		78	2.045		HGNC	p.A420V		CADM1		SNV							ENST00000452722	protein_coding	getma.org/?cm=var&var=hg19,11,115047264,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53		A/V		A	medium	1280/8588		getma.org/?cm=msa&ty=f&p=CADM1_HUMAN&rb=329&re=442&var=A420V	deleterious(0)	Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN			YES	CADM1,missense_variant,p.Ala420Val,ENST00000452722,NM_014333.3;CADM1,missense_variant,p.Ala392Val,ENST00000542447,NM_001098517.1;CADM1,missense_variant,p.Ala431Val,ENST00000537058,;CADM1,missense_variant,p.Ala421Val,ENST00000536727,;CADM1,missense_variant,p.Ala391Val,ENST00000545380,;CADM1,missense_variant,p.Ala449Val,ENST00000331581,;CADM1,non_coding_transcript_exon_variant,,ENST00000543375,;CADM1,intron_variant,,ENST00000537140,;CADM1,intron_variant,,ENST00000545960,;CADM1,non_coding_transcript_exon_variant,,ENST00000546000,;CADM1,non_coding_transcript_exon_variant,,ENST00000540852,;							MODERATE	1259/1329	A420V	CADM1_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000395359		CCDS8373.1			1	
ARMCX4	0	LGGM	GRCh37	X	100744087	100744087	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	5	32	.	.	ENST00000423738.3:c.511G>A	p.Ala171Thr	p.A171T	ENST00000423738	NM_001256155.1	171	Gct/Act	0	1		UPI00006275C3	0		ENST00000433011		ENSG00000196440	28615		37			HGNC	p.A275T		ARMCX4		SNV							ENST00000433011	nonsense_mediated_decay			hmmpanther:PTHR15712		A/T		A		1309/5399			deleterious(0.04)					ARMCX4,missense_variant,p.Ala171Thr,ENST00000423738,NM_001256155.1;ARMCX4,missense_variant,p.Ala275Thr,ENST00000433011,;ARMCX4,missense_variant,p.Ala275Thr,ENST00000452188,;ARMCX4,missense_variant,p.Ala263Thr,ENST00000354842,;ARMCX4,missense_variant,p.Ala263Thr,ENST00000455331,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;							MODERATE	823/1083		ARMX4_HUMAN			Transcript		benign(0.004)	.	ENSP00000424452					1	
HARBI1	0	LGGM	GRCh37	11	46637149	46637149	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	50	32	.	.	ENST00000326737.3:c.639A>G	p.Glu213=	p.E213=	ENST00000326737	NM_173811.3	213	gaA/gaG	0	1	1	UPI000004D30B	0		ENST00000326737		ENSG00000180423	26522		82			HGNC	p.E213E		HARBI1		SNV							ENST00000326737	protein_coding			Pfam_domain:PF13359,hmmpanther:PTHR22930,hmmpanther:PTHR22930:SF8		E		C		887/1967				E9PQI1_HUMAN,E9PK24_HUMAN			YES	HARBI1,synonymous_variant,p.=,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,;							LOW	639/1050		HARB1_HUMAN			Transcript			.	ENSP00000317743		CCDS7920.1			1	
PPIH	0	LGGM	GRCh37	1	43124909	43124909	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	42	33	.	.	ENST00000304979.3:c.142A>T	p.Thr48Ser	p.T48S	ENST00000304979	NM_006347.3	48	Acc/Tcc	0	1	1	UPI0000026830	0	getma.org/pdb.php?prot=PPIH_HUMAN&from=14&to=176&var=T48S	ENST00000304979		ENSG00000171960	14651		75	2.535		HGNC	p.T48S		PPIH		SNV							ENST00000304979	protein_coding	getma.org/?cm=var&var=hg19,1,43124909,A,T&fts=all		PROSITE_profiles:PS50072,hmmpanther:PTHR11071:SF58,hmmpanther:PTHR11071,Pfam_domain:PF00160,Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,Superfamily_domains:SSF50891		T/S		T	medium	164/752		getma.org/?cm=msa&ty=f&p=PPIH_HUMAN&rb=14&re=176&var=T48S	deleterious(0.02)	Q6FH36_HUMAN,H0YEL5_HUMAN,C9JQD4_HUMAN			YES	PPIH,missense_variant,p.Thr48Ser,ENST00000304979,NM_006347.3;PPIH,missense_variant,p.Thr22Ser,ENST00000440068,;PPIH,missense_variant,p.Thr22Ser,ENST00000372549,;PPIH,5_prime_UTR_variant,,ENST00000455203,;PPIH,5_prime_UTR_variant,,ENST00000372550,;CCDC30,downstream_gene_variant,,ENST00000342022,NM_001080850.2;CCDC30,downstream_gene_variant,,ENST00000340612,;PPIH,upstream_gene_variant,,ENST00000436387,;							MODERATE	142/534	T48S	PPIH_HUMAN			Transcript		possibly_damaging(0.782)	.	ENSP00000306614		CCDS469.1			1	
OR4C11	0	LGGM	GRCh37	11	55371633	55371633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	65	34	.	.	ENST00000302231.4:c.217A>G	p.Thr73Ala	p.T73A	ENST00000302231	NM_001004700.2	73	Act/Gct	0	1	1	UPI000013E7AD	0	getma.org/pdb.php?prot=OR4CB_HUMAN&from=1&to=136&var=T73A	ENST00000302231		ENSG00000172188	15167		99	2.38		HGNC	p.T73A		OR4C11		SNV							ENST00000302231	protein_coding	getma.org/?cm=var&var=hg19,11,55371633,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/A		C	medium	242/1045		getma.org/?cm=msa&ty=f&p=OR4CB_HUMAN&rb=1&re=136&var=T73A	deleterious(0.01)				YES	OR4C11,missense_variant,p.Thr73Ala,ENST00000302231,NM_001004700.2;							MODERATE	217/933	T73A	OR4CB_HUMAN			Transcript		benign(0.437)	.	ENSP00000306651		CCDS31503.1			1	
GLA	0	LGGM	GRCh37	X	100658955	100658955	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	13	35	.	.	ENST00000218516.3:c.213G>T	p.Glu71Asp	p.E71D	ENST00000218516	NM_000169.2	71	gaG/gaT	0	1	1	UPI0000033A30	0		ENST00000218516		ENSG00000102393	4296		48			HGNC	p.E71D		GLA		SNV			1				ENST00000218516	protein_coding			hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF15,Gene3D:3.20.20.70,Pfam_domain:PF02065,Superfamily_domains:SSF51445		E/D		A		235/1318			tolerated(0.59)	Q6LER7_HUMAN,Q53Y83_HUMAN			YES	GLA,missense_variant,p.Glu71Asp,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,;HNRNPH2,upstream_gene_variant,,ENST00000316594,NM_001199974.1,NM_001199973.1,NM_019597.4,NM_001032393.2;GLA,non_coding_transcript_exon_variant,,ENST00000479445,;GLA,non_coding_transcript_exon_variant,,ENST00000486121,;GLA,non_coding_transcript_exon_variant,,ENST00000480513,;GLA,upstream_gene_variant,,ENST00000468823,;GLA,missense_variant,p.Glu71Asp,ENST00000493905,;							MODERATE	213/1290		AGAL_HUMAN			Transcript		benign(0.002)	.	ENSP00000218516		CCDS14484.1			1	
PCLO	0	LGGM	GRCh37	7	82584516	82584516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	145	35	.	.	ENST00000333891.9:c.5753A>G	p.Tyr1918Cys	p.Y1918C	ENST00000333891	NM_033026.5	1918	tAt/tGt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		180	1.7		HGNC	p.Y1918C		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82584516,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		Y/C		C	low	6091/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=Y1849C					YES	PCLO,missense_variant,p.Tyr1918Cys,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Tyr1918Cys,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	5753/15429	Y1849C	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
FGD5	0	LGGM	GRCh37	3	14862542	14862542	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	57	36	.	.	ENST00000285046.5:c.1964G>A	p.Arg655His	p.R655H	ENST00000285046	NM_152536.3	655	cGc/cAc	0	1	1	UPI00002372AE	0	NA	ENST00000285046		ENSG00000154783	19117	0.000519	93	1.825		HGNC	p.R655H	rs751569304	FGD5		SNV							ENST00000285046	protein_coding	getma.org/?cm=var&var=hg19,3,14862542,G,A&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13		R/H		A	low	2074/5720	1.50E-05	getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=455&re=895&var=R655H	deleterious(0.04)	A3KMQ0_HUMAN			YES	FGD5,missense_variant,p.Arg655His,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Arg414His,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;							MODERATE	1964/4389	R655H	FGD5_HUMAN			Transcript		possibly_damaging(0.789)	common_variant	ENSP00000285046	5.79E-05	CCDS46767.1			1	
PPFIBP1	0	LGGM	GRCh37	12	27800725	27800725	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060417	H060417N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	52	37	.	.	ENST00000318304.8:c.421C>T	p.Leu141Phe	p.L141F	ENST00000318304	NM_177444.2	141	Ctt/Ttt	0	1	1	UPI00004565E6	0	NA	ENST00000318304		ENSG00000110841	9249		89	2.64		HGNC	p.L141F		PPFIBP1		SNV							ENST00000318304	protein_coding	getma.org/?cm=var&var=hg19,12,27800725,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16		L/F		T	medium	704/6001		getma.org/?cm=msa&ty=f&p=LIPB1_HUMAN&rb=1&re=289&var=L141F	deleterious(0)	F5H6Q7_HUMAN			YES	PPFIBP1,missense_variant,p.Leu141Phe,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,missense_variant,p.Leu141Phe,ENST00000228425,NM_003622.3;PPFIBP1,missense_variant,p.Leu141Phe,ENST00000542629,;PPFIBP1,missense_variant,p.Leu141Phe,ENST00000535047,;PPFIBP1,5_prime_UTR_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,5_prime_UTR_variant,,ENST00000538433,;PPFIBP1,intron_variant,,ENST00000540114,;PPFIBP1,downstream_gene_variant,,ENST00000542187,;PPFIBP1,missense_variant,p.Leu141Phe,ENST00000545381,;							MODERATE	421/3036	L141F	LIPB1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000314724		CCDS55812.1			1	
PRDM9	0	LGGM	GRCh37	5	23527470	23527470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	41	38	.	.	ENST00000296682.3:c.2273G>A	p.Arg758His	p.R758H	ENST00000296682	NM_020227.2	758	cGc/cAc	0	1	1	UPI00006C9E90	0	getma.org/pdb.php?prot=PRDM9_HUMAN&from=734&to=758&var=R758H	ENST00000296682		ENSG00000164256	13994		79	1.18		HGNC	p.R758H	COSM125571	PRDM9		SNV						1	ENST00000296682	protein_coding	getma.org/?cm=var&var=hg19,5,23527470,G,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157		R/H		A	low	2455/3691		getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=714&re=778&var=R758H	deleterious(0.01)	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN			YES	PRDM9,missense_variant,p.Arg758His,ENST00000296682,NM_020227.2;					1		MODERATE	2273/2685	R758H	PRDM9_HUMAN			Transcript		possibly_damaging(0.648)	.	ENSP00000296682		CCDS43307.1			1	
CCDC147	0	LGGM	GRCh37	10	106130696	106130696	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	8	38	.	.	ENST00000369704.3:c.974A>G	p.Lys325Arg	p.K325R	ENST00000369704	NM_001008723.1	325	aAg/aGg	0	1	1	UPI0000160405	0	NA	ENST00000369704		ENSG00000120051	26676		46	0.845		HGNC	p.K325R		CCDC147		SNV							ENST00000369704	protein_coding	getma.org/?cm=var&var=hg19,10,106130696,A,G&fts=all		hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF26		K/R		G	low	1108/3313		getma.org/?cm=msa&ty=f&p=CC147_HUMAN&rb=161&re=755&var=K325R	tolerated(0.24)	B4DK97_HUMAN			YES	CCDC147,missense_variant,p.Lys325Arg,ENST00000369704,NM_001008723.1;CCDC147,5_prime_UTR_variant,,ENST00000312902,;							MODERATE	974/2619	K325R	CC147_HUMAN			Transcript		benign(0.045)	.	ENSP00000358718		CCDS31282.1			1	
PRUNE2	0	LGGM	GRCh37	9	79323288	79323288	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060417	H060417N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	44	38	.	.	ENST00000376718.3:c.3902C>T	p.Ala1301Val	p.A1301V	ENST00000376718	NM_015225.2	1301	gCg/gTg	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		82	1.085		HGNC	p.A942V	rs768040536	PRUNE2	0.000121	SNV				0.000103			ENST00000428286	protein_coding	getma.org/?cm=var&var=hg19,9,79323288,G,A&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		A/V		A	low	4026/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1192&re=2780&var=A1301V	tolerated(0.51)				YES	PRUNE2,missense_variant,p.Ala942Val,ENST00000428286,;PRUNE2,missense_variant,p.Ala1301Val,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Ala623Val,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							MODERATE	3902/9267	A1301V	PRUN2_HUMAN			Transcript		benign(0.001)	.	ENSP00000365908	2.49E-05	CCDS47982.1			1	
NXPH1	0	LGGM	GRCh37	7	8791142	8791142	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	54	45	.	.	ENST00000405863.1:c.559A>G	p.Lys187Glu	p.K187E	ENST00000405863	NM_152745.2	187	Aaa/Gaa	0	1	1	UPI000000DC02	0	NA	ENST00000405863		ENSG00000122584	20693		99	2.175		HGNC	p.K187E		NXPH1		SNV							ENST00000405863	protein_coding	getma.org/?cm=var&var=hg19,7,8791142,A,G&fts=all		hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019		K/E		G	medium	1470/2921		getma.org/?cm=msa&ty=f&p=NXPH1_HUMAN&rb=61&re=271&var=K187E	deleterious(0.02)	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN			YES	NXPH1,missense_variant,p.Lys187Glu,ENST00000405863,NM_152745.2;NXPH1,missense_variant,p.Lys70Glu,ENST00000602349,;NXPH1,downstream_gene_variant,,ENST00000429542,;NXPH1,downstream_gene_variant,,ENST00000438764,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;							MODERATE	559/816	K187E	NXPH1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000384551		CCDS47540.1			1	
MOSPD2	0	LGGM	GRCh37	X	14891838	14891838	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	11	62	.	.	ENST00000380492.3:c.37A>T	p.Ile13Phe	p.I13F	ENST00000380492	NM_152581.3	13	Atc/Ttc	0	1	1	UPI00000735BA	0	NA	ENST00000380492		ENSG00000130150	28381		73	1.795		HGNC	p.I13F		MOSPD2		SNV							ENST00000380492	protein_coding	getma.org/?cm=var&var=hg19,X,14891838,A,T&fts=all		hmmpanther:PTHR19993,hmmpanther:PTHR19993:SF1,Gene3D:3.40.525.10		I/F		T	low	125/4163		getma.org/?cm=msa&ty=f&p=MSPD2_HUMAN&rb=1&re=88&var=I13F	tolerated(0.11)				YES	MOSPD2,missense_variant,p.Ile13Phe,ENST00000380492,NM_152581.3,NM_001177475.1;MOSPD2,missense_variant,p.Ile13Phe,ENST00000482354,;MOSPD2,missense_variant,p.Ile13Phe,ENST00000497603,;FANCB,upstream_gene_variant,,ENST00000398334,NM_001018113.1;FANCB,upstream_gene_variant,,ENST00000324138,NM_152633.2;FANCB,upstream_gene_variant,,ENST00000452869,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000461777,;FANCB,upstream_gene_variant,,ENST00000489126,;							MODERATE	37/1557	I13F	MSPD2_HUMAN			Transcript		benign(0.089)	.	ENSP00000369860		CCDS14162.1			1	
IGKV1-5	0	LGGM	GRCh37	2	89247093	89247093	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060417	H060417N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	67	110	.	.	ENST00000496168.1:c.77T>A	p.Met26Lys	p.M26K	ENST00000496168		26	aTg/aAg	0	1	1	UPI0000140AA1	0		ENST00000496168		ENSG00000243466	5741		177			HGNC	p.M26K		IGKV1-5		SNV							ENST00000496168	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		M/K		T		258/532			deleterious(0)				YES	IGKV1-5,missense_variant,p.Met26Lys,ENST00000496168,;							MODERATE	77/351					Transcript		possibly_damaging(0.778)	.	ENSP00000420436					1	
SMG5	0	LGGM	GRCh37	1	156237946	156237946	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060417	H060417N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060417N.bam, H060417T.bam	Illumina HiSeq	53	114	.	.	ENST00000361813.5:c.868A>C	p.Asn290His	p.N290H	ENST00000361813	NM_015327.2	290	Aac/Cac	0	1	1	UPI0000050C24	0	NA	ENST00000361813		ENSG00000198952	24644		167	0		HGNC	p.N290H		SMG5		SNV							ENST00000361813	protein_coding	getma.org/?cm=var&var=hg19,1,156237946,T,G&fts=all		Pfam_domain:PF10373,hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1,Superfamily_domains:SSF48452		N/H		G	neutral	1013/4559		getma.org/?cm=msa&ty=f&p=SMG5_HUMAN&rb=197&re=433&var=N290H	deleterious(0.01)				YES	SMG5,missense_variant,p.Asn290His,ENST00000361813,NM_015327.2;SMG5,missense_variant,p.Asn290His,ENST00000368267,;SMG5,upstream_gene_variant,,ENST00000489907,;							MODERATE	868/3051	N290H	SMG5_HUMAN			Transcript		benign(0.027)	.	ENSP00000355261		CCDS1137.1			1	
HMOX2	0	LGGM	GRCh37	16	4558107	4558107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	11	2	.	.	ENST00000570646.1:c.598C>A	p.Gln200Lys	p.Q200K	ENST00000570646	NM_002134.3	200	Cag/Aag	0	1		UPI000012CAAC	0	getma.org/pdb.php?prot=HMOX2_HUMAN&from=31&to=236&var=Q200K	ENST00000219700		ENSG00000103415	5014		13	2		HGNC	p.Q200K		HMOX2		SNV							ENST00000458134	protein_coding	getma.org/?cm=var&var=hg19,16,4558107,C,A&fts=all		Prints_domain:PR00088,Superfamily_domains:SSF48613,PIRSF_domain:PIRSF000343,Pfam_domain:PF01126,Gene3D:1.20.910.10,hmmpanther:PTHR10720,hmmpanther:PTHR10720:SF2		Q/K		A	medium	678/1621		getma.org/?cm=msa&ty=f&p=HMOX2_HUMAN&rb=31&re=236&var=Q200K	deleterious(0.01)	I3L4P8_HUMAN,I3L463_HUMAN,I3L430_HUMAN,I3L276_HUMAN,I3L1F5_HUMAN,I3L159_HUMAN				HMOX2,missense_variant,p.Gln200Lys,ENST00000570646,NM_002134.3;HMOX2,missense_variant,p.Gln200Lys,ENST00000458134,NM_001127204.1,NM_001286267.1;HMOX2,missense_variant,p.Gln200Lys,ENST00000414777,NM_001127205.1;HMOX2,missense_variant,p.Gln200Lys,ENST00000406590,NM_001127206.1;HMOX2,missense_variant,p.Gln200Lys,ENST00000398595,NM_001286270.1;HMOX2,missense_variant,p.Gln200Lys,ENST00000219700,NM_001286268.1;HMOX2,missense_variant,p.Gln171Lys,ENST00000575120,NM_001286271.1;HMOX2,missense_variant,p.Gln200Lys,ENST00000575051,;HMOX2,missense_variant,p.Gln200Lys,ENST00000570445,;HMOX2,missense_variant,p.Gln17Lys,ENST00000570622,;CDIP1,downstream_gene_variant,,ENST00000399599,;CDIP1,downstream_gene_variant,,ENST00000563332,NM_001199054.1;CDIP1,downstream_gene_variant,,ENST00000567695,NM_013399.2;CDIP1,downstream_gene_variant,,ENST00000564828,;CDIP1,downstream_gene_variant,,ENST00000563507,NM_001199055.1;CDIP1,downstream_gene_variant,,ENST00000562334,NM_001199056.1;HMOX2,downstream_gene_variant,,ENST00000574466,;HMOX2,downstream_gene_variant,,ENST00000575129,;HMOX2,downstream_gene_variant,,ENST00000576827,;CDIP1,downstream_gene_variant,,ENST00000562579,;HMOX2,downstream_gene_variant,,ENST00000572812,;CDIP1,downstream_gene_variant,,ENST00000588381,;CDIP1,downstream_gene_variant,,ENST00000589890,;CDIP1,downstream_gene_variant,,ENST00000563186,;CDIP1,downstream_gene_variant,,ENST00000589159,;							MODERATE	598/951	Q200K	HMOX2_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000219700		CCDS10517.1			1	
ZNF668	0	LGGM	GRCh37	16	31075328	31075328	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	6	2	.	.	ENST00000539836.3:c.522G>A	p.Ala174=	p.A174=	ENST00000539836	NM_001172669.1	174	gcG/gcA	0	1		UPI000013E6A5	0		ENST00000394983		ENSG00000167394	25821		8			HGNC	p.A151A	rs374148169,COSM1377564,COSM1377563	ZNF668		SNV	T:0					0,1,1	ENST00000300849	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24409:SF15,hmmpanther:PTHR24409,PROSITE_profiles:PS50157		A	T:0.0001	T		1092/2717	3.41E-05			C9JG35_HUMAN,C9JCJ0_HUMAN				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,synonymous_variant,p.=,ENST00000442862,;ZNF668,intron_variant,,ENST00000414399,;ZNF668,downstream_gene_variant,,ENST00000417110,;ZNF668,downstream_gene_variant,,ENST00000417935,;AC135050.5,upstream_gene_variant,,ENST00000568708,;ZNF668,downstream_gene_variant,,ENST00000564456,;					0,1,1		LOW	453/1860		ZN668_HUMAN			Transcript			.	ENSP00000378434	1.65E-05	CCDS10701.1			1	
KIF18B	0	LGGM	GRCh37	17	43013577	43013577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	7	2	.	.	ENST00000593135.1:c.136G>T	p.Asp46Tyr	p.D46Y	ENST00000593135	NM_001265577.1	46	Gat/Tat	0	1	1	UPI000192C418	0	getma.org/pdb.php?prot=KI18B_HUMAN&from=22&to=360&var=D55Y	ENST00000593135		ENSG00000186185	27102		9	2.15		HGNC	p.D55Y		KIF18B		SNV							ENST00000590129	protein_coding	getma.org/?cm=var&var=hg19,17,43013577,C,A&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF414,SMART_domains:SM00129,Superfamily_domains:SSF52540		D/Y		A	medium	234/2745		getma.org/?cm=msa&ty=f&p=KI18B_HUMAN&rb=22&re=360&var=D55Y	deleterious(0.01)				YES	KIF18B,missense_variant,p.Asp46Tyr,ENST00000587309,NM_001264573.1;KIF18B,missense_variant,p.Asp46Tyr,ENST00000438933,;KIF18B,missense_variant,p.Asp46Tyr,ENST00000593135,NM_001265577.1;KIF18B,missense_variant,p.Asp46Tyr,ENST00000339151,;KIF18B,missense_variant,p.Asp55Tyr,ENST00000590129,;KIF18B,upstream_gene_variant,,ENST00000585687,;							MODERATE	136/2559	D55Y	KI18B_HUMAN			Transcript		benign(0.127)	.	ENSP00000465992		CCDS45709.2			1	
COL23A1	0	LGGM	GRCh37	5	177674776	177674776	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	2	.	.	ENST00000390654.3:c.1269G>A	p.Met423Ile	p.M423I	ENST00000390654	NM_173465.3	423	atG/atA	0	1	1	UPI0000062274	0	NA	ENST00000390654		ENSG00000050767	22990		18	0.025		HGNC	p.M423I		COL23A1		SNV							ENST00000390654	protein_coding	getma.org/?cm=var&var=hg19,5,177674776,C,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg		M/I		T	neutral	1627/3061		getma.org/?cm=msa&ty=f&p=CONA1_HUMAN&rb=410&re=471&var=M423I	tolerated(0.37)				YES	COL23A1,missense_variant,p.Met423Ile,ENST00000390654,NM_173465.3;							MODERATE	1269/1623	M423I	CONA1_HUMAN			Transcript		benign(0.388)	.	ENSP00000375069		CCDS4436.1			1	
TMEM132A	0	LGGM	GRCh37	11	60704118	60704118	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	2	2	.	.	ENST00000005286.4:c.2814C>T	p.Ala938=	p.A938=	ENST00000005286	NM_178031.2	938	gcC/gcT	0	1		UPI0000190978	0		ENST00000453848		ENSG00000006118	31092		4			HGNC	p.A937A		TMEM132A		SNV							ENST00000453848	protein_coding			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF6,Low_complexity_(Seg):seg		A		T		2969/3346				F5H765_HUMAN				TMEM132A,synonymous_variant,p.=,ENST00000005286,NM_178031.2,NM_017870.3;TMEM132A,synonymous_variant,p.=,ENST00000453848,;TMEM132A,3_prime_UTR_variant,,ENST00000540112,;TMEM132A,intron_variant,,ENST00000535480,;SLC15A3,downstream_gene_variant,,ENST00000227880,NM_016582.2;SLC15A3,downstream_gene_variant,,ENST00000537307,;SLC15A3,downstream_gene_variant,,ENST00000536491,;SLC15A3,downstream_gene_variant,,ENST00000536784,;TMEM132A,downstream_gene_variant,,ENST00000536409,;TMEM132A,downstream_gene_variant,,ENST00000536928,;TMEM132A,downstream_gene_variant,,ENST00000539899,;SLC15A3,downstream_gene_variant,,ENST00000543406,;TMEM132A,downstream_gene_variant,,ENST00000544098,;TMEM132A,downstream_gene_variant,,ENST00000534983,;SLC15A3,downstream_gene_variant,,ENST00000541505,;TMEM132A,downstream_gene_variant,,ENST00000538090,;SLC15A3,downstream_gene_variant,,ENST00000544101,;							LOW	2811/3072		T132A_HUMAN			Transcript			.	ENSP00000405823		CCDS44618.1			1	
CDK11A	0	LGGM	GRCh37	1	1643834	1643834	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	5	2	.	.	ENST00000404249.3:c.494G>T	p.Arg165Leu	p.R165L	ENST00000404249	NM_024011.2	165	cGc/cTc	0	1		UPI00003664B8	0	NA	ENST00000378633		ENSG00000008128	1730		7	0.975		HGNC	p.R131L		CDK11A		SNV							ENST00000356200	protein_coding	getma.org/?cm=var&var=hg19,1,1643834,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		R/L		A	low	544/2458		getma.org/?cm=msa&ty=f&p=CD11A_HUMAN&rb=1&re=170&var=R155L	tolerated_low_confidence(0.06)	Q5QPQ9_HUMAN,Q4VBY6_HUMAN,E9PFJ2_HUMAN				CDK11A,missense_variant,p.Arg131Leu,ENST00000356200,;CDK11A,missense_variant,p.Arg155Leu,ENST00000378633,;CDK11A,missense_variant,p.Arg165Leu,ENST00000404249,NM_024011.2,NM_033486.1;CDK11A,missense_variant,p.Arg164Leu,ENST00000357760,NM_033492.1;CDK11A,missense_variant,p.Arg131Leu,ENST00000378638,NM_033489.1;CDK11A,missense_variant,p.Arg155Leu,ENST00000358779,NM_033529.2,NM_033493.1,NM_033488.1;CDK11A,intron_variant,,ENST00000378635,;CDK11A,downstream_gene_variant,,ENST00000479362,;RP1-283E3.8,non_coding_transcript_exon_variant,,ENST00000598846,;CDK11A,missense_variant,p.Arg165Leu,ENST00000460465,;CDK11A,missense_variant,p.Arg165Leu,ENST00000509982,;CDK11A,non_coding_transcript_exon_variant,,ENST00000356937,;CDK11A,upstream_gene_variant,,ENST00000492390,;CDK11A,upstream_gene_variant,,ENST00000468800,;CDK11A,upstream_gene_variant,,ENST00000474916,;							MODERATE	464/2352	R155L	CD11A_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000367900					1	
RP11-683L23.1	0	LGGM	GRCh37	18	49088	49088	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	2	2	.	.	ENST00000308911.6:c.167-38C>T		*56*	ENST00000308911				0	1	1	UPI000049DE76	0		ENST00000308911		ENSG00000173213			4			Clone_based_vega_gene	p.A44V	rs768674537	RP11-683L23.1		SNV				0.000125			ENST00000573909	protein_coding							A		-/1335							YES	RP11-683L23.1,missense_variant,p.Ala44Val,ENST00000573909,;RP11-683L23.1,intron_variant,,ENST00000308911,;RP11-683L23.1,upstream_gene_variant,,ENST00000594555,;RP11-683L23.1,downstream_gene_variant,,ENST00000575325,;RP11-683L23.1,downstream_gene_variant,,ENST00000572530,;RP11-683L23.2,downstream_gene_variant,,ENST00000575066,;	0.000132						MODIFIER	-/1335		TBB8L_HUMAN			Transcript			.	ENSP00000309431	1.66E-05				1	
USP17L17	0	LGGM	GRCh37	4	9245617	9245617	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	2	7	.	.	ENST00000511568.1:c.13T>C	p.Ser5Pro	p.S5P	ENST00000511568	NM_001256857.1	5	Tca/Cca	0	1	1	UPI0000160391	0	NA	ENST00000511568		ENSG00000249104	44445	0.00917	9	0.55		HGNC	p.S5P	rs770871806	USP17L17	0.00403	SNV				0.00472			ENST00000511568	protein_coding	getma.org/?cm=var&var=hg19,4,9245617,T,C&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382		S/P		C	neutral	13/1593	0.00788	getma.org/?cm=msa&ty=f&p=D6RBM5_HUMAN&rb=1&re=77&var=S5P	deleterious(0.02)				YES	USP17L17,missense_variant,p.Ser5Pro,ENST00000511568,NM_001256857.1;USP17L18,upstream_gene_variant,,ENST00000504209,NM_001256859.1;USP17L16P,downstream_gene_variant,,ENST00000507155,;	0.00778						MODERATE	13/1593	S5P	U17LH_HUMAN	0.00667		Transcript		probably_damaging(0.918)	common_variant	ENSP00000422621	0.00155	CCDS59458.1			1	
EPN1	0	LGGM	GRCh37	19	56189938	56189938	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	6	3	.	.	ENST00000411543.2:c.278G>A	p.Arg93His	p.R93H	ENST00000411543	NM_001130071.1	93	cGc/cAc	0	1		UPI000007050F	0		ENST00000270460		ENSG00000063245	21604		9			HGNC	p.R93H	rs781106190	EPN1		SNV							ENST00000411543	protein_coding							A		256/2452				B4DU91_HUMAN				EPN1,missense_variant,p.Arg93His,ENST00000411543,NM_001130071.1;EPN1,5_prime_UTR_variant,,ENST00000270460,NM_001130072.1;EPN1,5_prime_UTR_variant,,ENST00000085079,NM_013333.3;U2AF2,downstream_gene_variant,,ENST00000450554,NM_007279.2,NM_001012478.1;U2AF2,downstream_gene_variant,,ENST00000308924,;U2AF2,downstream_gene_variant,,ENST00000590551,;CTD-2537I9.12,upstream_gene_variant,,ENST00000589456,;CTD-2537I9.12,upstream_gene_variant,,ENST00000585940,;EPN1,upstream_gene_variant,,ENST00000591743,;							MODIFIER	-/1731		EPN1_HUMAN			Transcript			.	ENSP00000270460	2.53E-05	CCDS46199.1			1	
PCDHB1	0	LGGM	GRCh37	5	140432168	140432168	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	37	3	.	.	ENST00000306549.3:c.1113C>A	p.Ile371=	p.I371=	ENST00000306549	NM_013340.2	371	atC/atA	0	1	1	UPI000013EB56	0		ENST00000306549		ENSG00000171815	8680		40			HGNC	p.I371I		PCDHB1		SNV							ENST00000306549	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,SMART_domains:SM00112,Superfamily_domains:SSF49313		I		A		1190/2534							YES	PCDHB1,synonymous_variant,p.=,ENST00000306549,NM_013340.2;							LOW	1113/2457		PCDB1_HUMAN			Transcript			.	ENSP00000307234		CCDS4243.1			1	
NCKAP5L	0	LGGM	GRCh37	12	50190019	50190019	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	3	3	.	.	ENST00000335999.6:c.1624T>A	p.Leu542Met	p.L542M	ENST00000335999	NM_001037806.3	542	Ttg/Atg	0	1	1	UPI00006C1298	0	NA	ENST00000335999		ENSG00000167566	29321		6	0.345		HGNC	p.L542M		NCKAP5L		SNV							ENST00000335999	protein_coding	getma.org/?cm=var&var=hg19,12,50190019,A,T&fts=all		hmmpanther:PTHR21740		L/M		T	neutral	1826/4900		getma.org/?cm=msa&ty=f&p=NCK5L_HUMAN&rb=438&re=637&var=L538M	tolerated(0.11)				YES	NCKAP5L,missense_variant,p.Leu542Met,ENST00000335999,NM_001037806.3;NCKAP5L,missense_variant,p.Leu257Met,ENST00000433948,;							MODERATE	1624/4005	L538M	NCK5L_HUMAN			Transcript		possibly_damaging(0.554)	.	ENSP00000337998		CCDS41781.2			1	
LAD1	0	LGGM	GRCh37	1	201355600	201355600	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	32	3	.	.	ENST00000391967.2:c.889G>T	p.Ala297Ser	p.A297S	ENST00000391967	NM_005558.3	297	Gcc/Tcc	0	1	1	UPI000006CD59	0	NA	ENST00000391967		ENSG00000159166	6472		35	0.69		HGNC	p.A297S		LAD1		SNV							ENST00000391967	protein_coding	getma.org/?cm=var&var=hg19,1,201355600,C,A&fts=all		PIRSF_domain:PIRSF038144,hmmpanther:PTHR12392		A/S		A	neutral	1191/2906		getma.org/?cm=msa&ty=f&p=LAD1_HUMAN&rb=1&re=515&var=A297S	tolerated(0.21)				YES	LAD1,missense_variant,p.Ala297Ser,ENST00000391967,NM_005558.3;LAD1,missense_variant,p.Ala311Ser,ENST00000367313,;LAD1,upstream_gene_variant,,ENST00000503578,;LAD1,upstream_gene_variant,,ENST00000488842,;LAD1,upstream_gene_variant,,ENST00000475136,;							MODERATE	889/1554	A297S	LAD1_HUMAN			Transcript		benign(0.159)	.	ENSP00000375829		CCDS1410.1			1	
PELI3	0	LGGM	GRCh37	11	66240717	66240717	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	23	3	.	.	ENST00000320740.7:c.462C>T	p.Gly154=	p.G154=	ENST00000320740	NM_145065.2	154	ggC/ggT	0	1	1	UPI00000707EF	0		ENST00000320740		ENSG00000174516	30010		26			HGNC	p.G130G		PELI3		SNV							ENST00000349459	protein_coding			hmmpanther:PTHR12098,hmmpanther:PTHR12098:SF6,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886		G		T		622/2740				H0YEM6_HUMAN,E9PQX6_HUMAN,E9PI91_HUMAN			YES	PELI3,synonymous_variant,p.=,ENST00000349459,NM_001098510.1;PELI3,synonymous_variant,p.=,ENST00000320740,NM_145065.2,NM_001243136.1;PELI3,synonymous_variant,p.=,ENST00000524466,;PELI3,synonymous_variant,p.=,ENST00000526296,;PELI3,upstream_gene_variant,,ENST00000528752,;PELI3,downstream_gene_variant,,ENST00000527230,;CTD-3074O7.5,downstream_gene_variant,,ENST00000527274,;CTD-3074O7.5,downstream_gene_variant,,ENST00000527092,;CTD-3074O7.5,downstream_gene_variant,,ENST00000533502,;CTD-3074O7.5,downstream_gene_variant,,ENST00000525142,;CTD-3074O7.5,downstream_gene_variant,,ENST00000602951,;PELI3,intron_variant,,ENST00000531856,;PELI3,3_prime_UTR_variant,,ENST00000532970,;							LOW	462/1410		PELI3_HUMAN			Transcript			.	ENSP00000322532		CCDS31615.1			1	
SDK2	0	LGGM	GRCh37	17	71431655	71431655	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	8	4	.	.	ENST00000392650.3:c.1129A>T	p.Met377Leu	p.M377L	ENST00000392650	NM_001144952.1	377	Atg/Ttg	0	1	1	UPI0000E5A088	0	getma.org/pdb.php?prot=SDK2_HUMAN&from=308&to=397&var=M377L	ENST00000392650		ENSG00000069188	19308		12	0.71		HGNC	p.M377L		SDK2		SNV							ENST00000388726	protein_coding	getma.org/?cm=var&var=hg19,17,71431655,T,A&fts=all		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		M/L		A	neutral	1130/10723		getma.org/?cm=msa&ty=f&p=SDK2_HUMAN&rb=308&re=397&var=M377L	deleterious(0.04)				YES	SDK2,missense_variant,p.Met377Leu,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Met377Leu,ENST00000388726,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;							MODERATE	1129/6519	M377L	SDK2_HUMAN			Transcript		benign(0.297)	.	ENSP00000376421		CCDS45769.1			1	
SEC31B	0	LGGM	GRCh37	10	102247832	102247832	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	9	4	.	.	ENST00000370345.3:c.3312G>A	p.Glu1104=	p.E1104=	ENST00000370345	NM_015490.3	1104	gaG/gaA	0	1	1	UPI0000070A8E	0		ENST00000370345		ENSG00000075826	23197		13			HGNC	p.E1104E		SEC31B		SNV							ENST00000370345	protein_coding			hmmpanther:PTHR13923,hmmpanther:PTHR13923:SF22		E		T		3410/4612							YES	SEC31B,synonymous_variant,p.=,ENST00000370345,NM_015490.3;WNT8B,downstream_gene_variant,,ENST00000343737,NM_003393.3;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000492667,;SEC31B,non_coding_transcript_exon_variant,,ENST00000485800,;							LOW	3312/3540		SC31B_HUMAN			Transcript			.	ENSP00000359370		CCDS7495.1			1	
ODF4	0	LGGM	GRCh37	17	8248779	8248779	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	35	4	.	.	ENST00000328248.2:c.573C>A	p.Ile191=	p.I191=	ENST00000328248	NM_153007.4	191	atC/atA	0	1	1	UPI000013F20D	0		ENST00000328248		ENSG00000184650	19056		39			HGNC	p.I191I	rs771122013	ODF4		SNV				9.61E-05			ENST00000328248	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10671:SF24,hmmpanther:PTHR10671		I		A		761/1156							YES	ODF4,synonymous_variant,p.=,ENST00000328248,NM_153007.4;ODF4,synonymous_variant,p.=,ENST00000584943,;							LOW	573/774		ODFP4_HUMAN			Transcript			.	ENSP00000331086	8.24E-06	CCDS11140.1			1	
NPBWR2	0	LGGM	GRCh37	20	62737785	62737785	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	9	4	.	.	ENST00000369768.1:c.400T>G	p.Phe134Val	p.F134V	ENST00000369768	NM_005286.2	134	Ttc/Gtc	0	1	1	UPI000013CBB3	0	getma.org/pdb.php?prot=NPBW2_HUMAN&from=62&to=316&var=F134V	ENST00000369768		ENSG00000125522	4530		13	2.825		HGNC	p.F134V		NPBWR2		SNV							ENST00000369768	protein_coding	getma.org/?cm=var&var=hg19,20,62737785,A,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		F/V		C	medium	740/1352		getma.org/?cm=msa&ty=f&p=NPBW2_HUMAN&rb=62&re=316&var=F134V	deleterious(0.04)				YES	NPBWR2,missense_variant,p.Phe134Val,ENST00000369768,NM_005286.2;							MODERATE	400/1002	F134V	NPBW2_HUMAN			Transcript		benign(0.433)	.	ENSP00000358783		CCDS13557.1			1	
KCNT1	0	LGGM	GRCh37	9	138657024	138657024	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	4	.	.	ENST00000371757.2:c.1183G>A	p.Ala395Thr	p.A395T	ENST00000371757	NM_020822.2	395	Gcc/Acc	0	1		UPI0002B831D7	0	getma.org/pdb.php?prot=KCNT1_HUMAN&from=337&to=474&var=A376T	ENST00000488444		ENSG00000107147	18865		20	2.43		HGNC	p.A350T		KCNT1		SNV			1				ENST00000487664	protein_coding	getma.org/?cm=var&var=hg19,9,138657024,G,A&fts=all		Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14,Superfamily_domains:SSF81324		A/T		A	medium	1134/3719		getma.org/?cm=msa&ty=f&p=KCNT1_HUMAN&rb=337&re=474&var=A376T	deleterious(0.01)	C9JZ51_HUMAN				KCNT1,missense_variant,p.Ala395Thr,ENST00000298480,;KCNT1,missense_variant,p.Ala395Thr,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Ala350Thr,ENST00000487664,NM_001272003.1;KCNT1,missense_variant,p.Ala376Thr,ENST00000263604,;KCNT1,missense_variant,p.Ala362Thr,ENST00000491806,;KCNT1,missense_variant,p.Ala376Thr,ENST00000488444,;KCNT1,missense_variant,p.Ala356Thr,ENST00000486577,;KCNT1,missense_variant,p.Ala376Thr,ENST00000490355,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;							MODERATE	1126/3708	A376T				Transcript		possibly_damaging(0.742)	.	ENSP00000419007					1	
BCOR	0	LGGM	GRCh37	X	39930325	39930325	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	5	4	.	.	ENST00000378444.4:c.3139A>T	p.Ser1047Cys	p.S1047C	ENST00000378444	NM_001123385.1	1047	Agc/Tgc	0	1	1	UPI00002318CF	0	NA	ENST00000378444		ENSG00000183337	20893		9	0.805		HGNC	p.S1047C		BCOR		SNV			1				ENST00000378444	protein_coding	getma.org/?cm=var&var=hg19,X,39930325,T,A&fts=all		hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8		S/C		A	low	3368/6358		getma.org/?cm=msa&ty=f&p=BCOR_HUMAN&rb=756&re=1389&var=S1047C	deleterious(0)	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN			YES	BCOR,missense_variant,p.Ser1047Cys,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Ser1047Cys,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Ser1029Cys,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Ser1047Cys,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Ser1047Cys,ENST00000406200,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,downstream_gene_variant,,ENST00000490976,;							MODERATE	3139/5268	S1047C	BCOR_HUMAN			Transcript		possibly_damaging(0.713)	.	ENSP00000367705		CCDS48093.1			1	
FAM160A2	0	LGGM	GRCh37	11	6239333	6239334	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H060509	H060509N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	3	4	.	.	ENST00000265978.4:c.1524_1525insA	p.Arg509ThrfsTer21	p.R509Tfs*21	ENST00000265978	NM_032127.3	508	-/A	0	1		UPI000006E6DD	0		ENST00000449352		ENSG00000051009	25378		7			HGNC	p.R495fs		FAM160A2		insertion							ENST00000449352	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4		-/X		T		1746-1747/3354								FAM160A2,frameshift_variant,p.Arg509ThrfsTer21,ENST00000265978,NM_032127.3,NM_001098794.1;FAM160A2,frameshift_variant,p.Arg495ThrfsTer21,ENST00000449352,;FAM160A2,frameshift_variant,p.Arg495ThrfsTer21,ENST00000524416,;FAM160A2,non_coding_transcript_exon_variant,,ENST00000532797,;FAM160A2,upstream_gene_variant,,ENST00000529360,;							HIGH	1482-1483/2919		F16A2_HUMAN			Transcript			.	ENSP00000416918		CCDS44530.1			1	
KTN1	0	LGGM	GRCh37	14	56113725	56113725	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	17	5	.	.	ENST00000395314.3:c.2207G>A	p.Cys736Tyr	p.C736Y	ENST00000395314	NM_001079521.1	736	tGc/tAc	0	1	1	UPI0000190F88	0	NA	ENST00000395314		ENSG00000126777	6467		22	0.895		HGNC	p.C16Y		KTN1		SNV							ENST00000553360	protein_coding	getma.org/?cm=var&var=hg19,14,56113725,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18864		C/Y		A	low	2275/4618		getma.org/?cm=msa&ty=f&p=KTN1_HUMAN&rb=29&re=1019&var=C736Y	tolerated(1)	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,missense_variant,p.Cys736Tyr,ENST00000416613,;KTN1,missense_variant,p.Cys736Tyr,ENST00000395314,NM_001079521.1;KTN1,missense_variant,p.Cys736Tyr,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,missense_variant,p.Cys736Tyr,ENST00000395311,;KTN1,missense_variant,p.Cys736Tyr,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Cys736Tyr,ENST00000395309,;KTN1,missense_variant,p.Cys736Tyr,ENST00000395308,;KTN1,missense_variant,p.Cys31Tyr,ENST00000554507,;KTN1,missense_variant,p.Cys31Tyr,ENST00000554890,;Y_RNA,upstream_gene_variant,,ENST00000363872,;KTN1,missense_variant,p.Cys736Tyr,ENST00000459737,;KTN1,missense_variant,p.Cys16Tyr,ENST00000553360,;KTN1,upstream_gene_variant,,ENST00000555164,;							MODERATE	2207/4074	C736Y	KTN1_HUMAN			Transcript		benign(0.275)	.	ENSP00000378725		CCDS41957.1			1	
PRH1	0	LGGM	GRCh37	12	11035248	11035248	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	10	5	.	.	ENST00000428168.2:c.150T>A	p.Pro50=	p.P50=	ENST00000428168	NM_006250.3	50	ccT/ccA	0	1	1	UPI0000141771	0		ENST00000428168		ENSG00000231887	9366		15			HGNC	p.P50P		PRH1		SNV							ENST00000428168	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23203,Pfam_domain:PF15240		P		T		188/603							YES	PRH1,synonymous_variant,p.=,ENST00000428168,NM_006250.3;PRR4,non_coding_transcript_exon_variant,,ENST00000536668,;PRR4,non_coding_transcript_exon_variant,,ENST00000539853,;PRR4,non_coding_transcript_exon_variant,,ENST00000538332,;PRR4,non_coding_transcript_exon_variant,,ENST00000543626,;PRR4,non_coding_transcript_exon_variant,,ENST00000543480,;PRR4,non_coding_transcript_exon_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000535024,;							LOW	150/501					Transcript			.	ENSP00000412436					1	
AXIN1	0	LGGM	GRCh37	16	396559	396559	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	5	.	.	ENST00000262320.3:c.467T>A	p.Val156Glu	p.V156E	ENST00000262320	NM_003502.3	156	gTg/gAg	0	1	1	UPI000012669E	0	getma.org/pdb.php?prot=AXIN1_HUMAN&from=88&to=210&var=V156E	ENST00000262320		ENSG00000103126	903		21	2.135		HGNC	p.V156E		AXIN1		SNV			1				ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,396559,A,T&fts=all		PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097		V/E		T	medium	839/3643		getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=88&re=210&var=V156E	deleterious(0)				YES	AXIN1,missense_variant,p.Val156Glu,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Val156Glu,ENST00000354866,NM_181050.2;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;							MODERATE	467/2589	V156E	AXIN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262320		CCDS10405.1			1	
MMRN1	0	LGGM	GRCh37	4	90830449	90830449	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	17	5	.	.	ENST00000394980.1:c.646A>T	p.Thr216Ser	p.T216S	ENST00000394980		216	Acc/Tcc	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		22	1.19		HGNC	p.T216S		MMRN1		SNV							ENST00000394980	protein_coding	getma.org/?cm=var&var=hg19,4,90830449,A,T&fts=all		PROSITE_profiles:PS51041,hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427,Pfam_domain:PF07546		T/S		T	low	717/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=207&re=279&var=T216S	tolerated(0.14)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Thr216Ser,ENST00000394980,;MMRN1,missense_variant,p.Thr216Ser,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Thr182Ser,ENST00000394981,;MMRN1,5_prime_UTR_variant,,ENST00000508372,;							MODERATE	646/3687	T216S	MMRN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264790		CCDS3635.1			1	
SDK1	0	LGGM	GRCh37	7	4091285	4091285	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	25	5	.	.	ENST00000404826.2:c.2734G>T	p.Ala912Ser	p.A912S	ENST00000404826	NM_152744.3	912	Gca/Tca	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=871&to=960&var=A912S	ENST00000404826		ENSG00000146555	19307		30	0.1		HGNC	p.A912S		SDK1		SNV							ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,4091285,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/S		T	neutral	2873/10397		getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=871&re=960&var=A912S	tolerated(0.22)				YES	SDK1,missense_variant,p.Ala912Ser,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ala912Ser,ENST00000389531,;							MODERATE	2734/6642	A912S	SDK1_HUMAN			Transcript		benign(0.009)	.	ENSP00000385899		CCDS34590.1			1	
XPOT	0	LGGM	GRCh37	12	64828622	64828622	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	85	5	.	.	ENST00000332707.5:c.2618T>G	p.Ile873Ser	p.I873S	ENST00000332707	NM_007235.4	873	aTt/aGt	0	1	1	UPI0000161BA5	0	getma.org/pdb.php?prot=XPOT_HUMAN&from=848&to=962&var=I873S	ENST00000332707		ENSG00000184575	12826		90	1.795		HGNC	p.I873S		XPOT		SNV							ENST00000332707	protein_coding	getma.org/?cm=var&var=hg19,12,64828622,T,G&fts=all		hmmpanther:PTHR15952		I/S		G	low	3147/6414		getma.org/?cm=msa&ty=f&p=XPOT_HUMAN&rb=848&re=962&var=I873S	deleterious(0)	F8WDU6_HUMAN,F5GYW6_HUMAN			YES	XPOT,missense_variant,p.Ile873Ser,ENST00000332707,NM_007235.4;XPOT,downstream_gene_variant,,ENST00000538086,;XPOT,downstream_gene_variant,,ENST00000542958,;XPOT,downstream_gene_variant,,ENST00000541842,;							MODERATE	2618/2889	I873S	XPOT_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000327821		CCDS31852.1			1	
GATAD2B	0	LGGM	GRCh37	1	153789021	153789021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	14	5	.	.	ENST00000368655.4:c.944C>T	p.Ala315Val	p.A315V	ENST00000368655	NM_020699.2	315	gCc/gTc	0	1	1	UPI0000071E1B	0	NA	ENST00000368655		ENSG00000143614	30778		19	0.69		HGNC	p.A315V	COSM896434	GATAD2B		SNV			1			1	ENST00000368655	protein_coding	getma.org/?cm=var&var=hg19,1,153789021,G,A&fts=all		hmmpanther:PTHR13455:SF4,hmmpanther:PTHR13455		A/V		A	neutral	1188/7478		getma.org/?cm=msa&ty=f&p=P66B_HUMAN&rb=201&re=400&var=A315V	deleterious(0.05)				YES	GATAD2B,missense_variant,p.Ala315Val,ENST00000368655,NM_020699.2;					1		MODERATE	944/1782	A315V	P66B_HUMAN			Transcript		benign(0.045)	.	ENSP00000357644		CCDS1054.1			1	
WNT9B	0	LGGM	GRCh37	17	44950094	44950094	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	7	5	.	.	ENST00000290015.2:c.289C>T	p.Arg97Cys	p.R97C	ENST00000290015	NM_003396.1	97	Cgc/Tgc	0	1	1	UPI000013DFB5	0	getma.org/pdb.php?prot=WNT9B_HUMAN&from=54&to=356&var=R97C	ENST00000290015		ENSG00000158955	12779		12	3.92		HGNC	p.R103C		WNT9B		SNV							ENST00000575372	protein_coding	getma.org/?cm=var&var=hg19,17,44950094,C,T&fts=all		hmmpanther:PTHR12027:SF84,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097		R/C		T	high	342/1376		getma.org/?cm=msa&ty=f&p=WNT9B_HUMAN&rb=54&re=356&var=R97C	deleterious(0)				YES	WNT9B,missense_variant,p.Arg97Cys,ENST00000393461,;WNT9B,missense_variant,p.Arg97Cys,ENST00000290015,NM_003396.1;WNT9B,missense_variant,p.Arg103Cys,ENST00000575372,;							MODERATE	289/1074	R97C	WNT9B_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000290015		CCDS11506.1			1	
RETSAT	0	LGGM	GRCh37	2	85581545	85581545	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	35	6	.	.	ENST00000295802.4:c.86C>T	p.Ser29Phe	p.S29F	ENST00000295802	NM_017750.3	29	tCc/tTc	0	1	1	UPI000003BBD9	0	NA	ENST00000295802		ENSG00000042445	25991		41	2.075		HGNC	p.S29F		RETSAT		SNV							ENST00000457495	protein_coding	getma.org/?cm=var&var=hg19,2,85581545,G,A&fts=all		hmmpanther:PTHR10668,hmmpanther:PTHR10668:SF61		S/F		A	medium	199/3100		getma.org/?cm=msa&ty=f&p=RETST_HUMAN&rb=1&re=71&var=S29F	deleterious(0.02)	I0EZ74_HUMAN			YES	RETSAT,missense_variant,p.Ser29Phe,ENST00000295802,NM_017750.3;RETSAT,missense_variant,p.Ser29Phe,ENST00000263854,;RETSAT,missense_variant,p.Ser29Phe,ENST00000457495,;RETSAT,missense_variant,p.Ser27Phe,ENST00000449375,;RETSAT,missense_variant,p.Ser29Phe,ENST00000409984,;ELMOD3,upstream_gene_variant,,ENST00000315658,NM_032213.4;ELMOD3,upstream_gene_variant,,ENST00000409890,;ELMOD3,upstream_gene_variant,,ENST00000409344,NM_001135021.1;ELMOD3,upstream_gene_variant,,ENST00000409013,NM_001135022.1;ELMOD3,upstream_gene_variant,,ENST00000393852,NM_001135023.1;ELMOD3,upstream_gene_variant,,ENST00000418268,;ELMOD3,upstream_gene_variant,,ENST00000428955,;ELMOD3,upstream_gene_variant,,ENST00000409331,;ELMOD3,upstream_gene_variant,,ENST00000462891,;ELMOD3,non_coding_transcript_exon_variant,,ENST00000462396,;ELMOD3,upstream_gene_variant,,ENST00000490508,;RETSAT,upstream_gene_variant,,ENST00000482694,;ELMOD3,upstream_gene_variant,,ENST00000476734,;RETSAT,non_coding_transcript_exon_variant,,ENST00000490291,;ELMOD3,upstream_gene_variant,,ENST00000446464,;RETSAT,upstream_gene_variant,,ENST00000429806,;ELMOD3,upstream_gene_variant,,ENST00000423095,;ELMOD3,upstream_gene_variant,,ENST00000414593,;RETSAT,upstream_gene_variant,,ENST00000438611,;ELMOD3,upstream_gene_variant,,ENST00000444108,;ELMOD3,upstream_gene_variant,,ENST00000410106,;ELMOD3,upstream_gene_variant,,ENST00000429764,;ELMOD3,upstream_gene_variant,,ENST00000466467,;ELMOD3,upstream_gene_variant,,ENST00000440462,;							MODERATE	86/1833	S29F	RETST_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000295802		CCDS1972.1			1	
ACP6	0	LGGM	GRCh37	1	147122008	147122008	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	22	6	.	.	ENST00000369238.6:c.915C>T	p.Leu305=	p.L305=	ENST00000369238	NM_016361.4	305	ctC/ctT	0	1	1	UPI000013E1D8	0		ENST00000369238		ENSG00000162836	29609		28			HGNC	p.L305L		ACP6		SNV							ENST00000369238	protein_coding			Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF116,Superfamily_domains:SSF53254		L		A		1363/6926							YES	ACP6,synonymous_variant,p.=,ENST00000369238,NM_016361.4;ACP6,synonymous_variant,p.=,ENST00000609196,;ACP6,downstream_gene_variant,,ENST00000392988,;ACP6,non_coding_transcript_exon_variant,,ENST00000460583,;ACP6,non_coding_transcript_exon_variant,,ENST00000487562,;							LOW	915/1287		PPA6_HUMAN			Transcript			.	ENSP00000358241		CCDS928.1			1	
IPO5	0	LGGM	GRCh37	13	98649794	98649794	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	15	6	.	.	ENST00000261574.5:c.977T>A	p.Met326Lys	p.M326K	ENST00000261574	NM_002271.4	326	aTg/aAg	0	1		UPI0000000DBE	0	getma.org/pdb.php?prot=IPO5_HUMAN&from=201&to=399&var=M308K	ENST00000357602		ENSG00000065150	6402		21	1.79		HGNC	p.M308K		IPO5		SNV							ENST00000490680	protein_coding	getma.org/?cm=var&var=hg19,13,98649794,T,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF22,Superfamily_domains:SSF48371		M/K		A	low	1297/4335		getma.org/?cm=msa&ty=f&p=IPO5_HUMAN&rb=201&re=399&var=M308K	deleterious(0.01)	Q9BVS9_HUMAN,E7ETV3_HUMAN,C9JZD8_HUMAN,C9JZ53_HUMAN,B3KWG6_HUMAN				IPO5,missense_variant,p.Met326Lys,ENST00000261574,NM_002271.4;IPO5,missense_variant,p.Met308Lys,ENST00000357602,;IPO5,missense_variant,p.Met310Lys,ENST00000469360,;IPO5,missense_variant,p.Met308Lys,ENST00000490680,;IPO5,missense_variant,p.Met183Lys,ENST00000539640,;IPO5,non_coding_transcript_exon_variant,,ENST00000470493,;IPO5,upstream_gene_variant,,ENST00000491555,;IPO5,upstream_gene_variant,,ENST00000479736,;							MODERATE	923/3294	M308K	IPO5_HUMAN			Transcript		benign(0.122)	.	ENSP00000350219					1	
C2orf49	0	LGGM	GRCh37	2	105959643	105959643	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	17	6	.	.	ENST00000258457.2:c.605T>G	p.Leu202Ter	p.L202*	ENST00000258457		202	tTa/tGa	0	1	1	UPI000007329F	0	NA	ENST00000258457		ENSG00000135974	28772		23	0		HGNC	p.L198X		C2orf49		SNV							ENST00000437250	protein_coding	getma.org/?cm=var&var=hg19,2,105959643,T,G&fts=all		Pfam_domain:PF15323		L/*		G	NA	834/4768		NA					YES	C2orf49,stop_gained,p.Leu202Ter,ENST00000258457,;C2orf49,stop_gained,p.Leu198Ter,ENST00000437250,;C2orf49,stop_gained,p.Leu160Ter,ENST00000410049,NM_024093.1;							HIGH	605/699	L202*	ASHWN_HUMAN			Transcript			.	ENSP00000258457		CCDS2068.1			1	
EIF2AK4	0	LGGM	GRCh37	15	40270338	40270338	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	15	6	.	.	ENST00000263791.5:c.2309G>C	p.Ser770Thr	p.S770T	ENST00000263791	NM_001013703.2	770	aGt/aCt	0	1	1	UPI0000160791	0	NA	ENST00000263791		ENSG00000128829	19687		21	0.55		HGNC	p.S770T		EIF2AK4		SNV			1				ENST00000382727	protein_coding	getma.org/?cm=var&var=hg19,15,40270338,G,C&fts=all		PIRSF_domain:PIRSF000660,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,SMART_domains:SM00220		S/T		C	neutral	2352/5499		getma.org/?cm=msa&ty=f&p=E2AK4_HUMAN&rb=764&re=1001&var=S770T	tolerated(0.1)				YES	EIF2AK4,missense_variant,p.Ser770Thr,ENST00000263791,NM_001013703.2;EIF2AK4,missense_variant,p.Ser770Thr,ENST00000382727,;EIF2AK4,missense_variant,p.Ser576Thr,ENST00000560855,;EIF2AK4,downstream_gene_variant,,ENST00000559624,;							MODERATE	2309/4950	S770T	E2AK4_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000263791		CCDS42016.1			1	
CDH8	0	LGGM	GRCh37	16	62055058	62055058	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	19	6	.	.	ENST00000577390.1:c.250C>A	p.Arg84=	p.R84=	ENST00000577390	NM_001796.4	84	Cgg/Agg	0	1	1	UPI0000126D9F	0		ENST00000577390		ENSG00000150394	1767		25			HGNC	p.R84R		CDH8		SNV							ENST00000299345	protein_coding			Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		R		T		1205/9721				J3KTG8_HUMAN,J3KT81_HUMAN			YES	CDH8,splice_region_variant,p.=,ENST00000577390,NM_001796.4;CDH8,splice_region_variant,p.=,ENST00000577730,;CDH8,splice_region_variant,p.=,ENST00000584337,;CDH8,splice_region_variant,p.=,ENST00000299345,;CDH8,splice_region_variant,p.=,ENST00000583382,;CDH8,downstream_gene_variant,,ENST00000584506,;CDH8,splice_region_variant,p.=,ENST00000585315,;CDH8,splice_region_variant,,ENST00000584966,;							LOW	250/2400		CADH8_HUMAN			Transcript			.	ENSP00000462701		CCDS10802.1			1	
C1orf106	0	LGGM	GRCh37	1	200868717	200868717	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	4	6	.	.	ENST00000413687.2:c.172C>T	p.Arg58Trp	p.R58W	ENST00000413687	NM_001142569.2	58	Cgg/Tgg	0	1		UPI000013E26E	0	NA	ENST00000367342		ENSG00000163362	25599		10	2.445		HGNC	p.R58W	rs552128674	C1orf106		SNV							ENST00000413687	protein_coding	getma.org/?cm=var&var=hg19,1,200868717,C,T&fts=all	T:0	Pfam_domain:PF11819,hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4,Low_complexity_(Seg):seg		R/W		T	medium	627/4298	1.71E-05	getma.org/?cm=msa&ty=f&p=CA106_HUMAN&rb=86&re=217&var=R143W	deleterious(0)	E9PK29_HUMAN,C9JAT8_HUMAN	T:0	T:0.004		C1orf106,missense_variant,p.Arg143Trp,ENST00000367342,NM_018265.3;C1orf106,missense_variant,p.Arg58Trp,ENST00000413687,NM_001142569.2;C1orf106,missense_variant,p.Arg58Trp,ENST00000451872,;C1orf106,downstream_gene_variant,,ENST00000532631,;C1orf106,upstream_gene_variant,,ENST00000531649,;	0.000905	T:0.0008					MODERATE	427/1992	R143W	CA106_HUMAN		T:0	Transcript		probably_damaging(0.999)	common_variant	ENSP00000356311	6.59E-05			T:0	1	
DYDC2	0	LGGM	GRCh37	10	82122262	82122262	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	12	6	.	.	ENST00000372198.1:c.105G>C	p.Val35=	p.V35=	ENST00000372198	NM_001270042.1	35	gtG/gtC	0	1		UPI0000073011	0		ENST00000256039		ENSG00000133665	23468		18			HGNC	p.V21V		DYDC2		SNV							ENST00000444807	protein_coding			Pfam_domain:PF05186,hmmpanther:PTHR23356,hmmpanther:PTHR23356:SF3		V		C		249/1842								DYDC2,synonymous_variant,p.=,ENST00000372199,;DYDC2,synonymous_variant,p.=,ENST00000372197,;DYDC2,synonymous_variant,p.=,ENST00000256039,NM_032372.5,NM_001270041.1;DYDC2,synonymous_variant,p.=,ENST00000372198,NM_001270042.1;DYDC2,synonymous_variant,p.=,ENST00000444807,;DYDC2,synonymous_variant,p.=,ENST00000411538,;							LOW	63/534		DYDC2_HUMAN			Transcript			.	ENSP00000256039		CCDS7367.1			1	
PACSIN2	0	LGGM	GRCh37	22	43308075	43308075	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	9	6	.	.	ENST00000263246.3:c.12A>G	p.Thr4=	p.T4=	ENST00000263246	NM_001184970.1	4	acA/acG	0	1	1	UPI00001311CA	0		ENST00000263246		ENSG00000100266	8571	0.000259	15			HGNC	p.T4T	rs748432370	PACSIN2		SNV							ENST00000453079	protein_coding			hmmpanther:PTHR10959:SF2,hmmpanther:PTHR10959		T		C		214/3249				B0QYG9_HUMAN,B0QYG7_HUMAN			YES	PACSIN2,synonymous_variant,p.=,ENST00000263246,NM_001184970.1;PACSIN2,synonymous_variant,p.=,ENST00000337959,;PACSIN2,synonymous_variant,p.=,ENST00000407585,NM_001184971.1;PACSIN2,synonymous_variant,p.=,ENST00000403744,NM_007229.3;PACSIN2,synonymous_variant,p.=,ENST00000402229,;PACSIN2,synonymous_variant,p.=,ENST00000453643,;PACSIN2,synonymous_variant,p.=,ENST00000422336,;PACSIN2,synonymous_variant,p.=,ENST00000418133,;PACSIN2,synonymous_variant,p.=,ENST00000453079,;PACSIN2,synonymous_variant,p.=,ENST00000445706,;	0.000116						LOW	12/1461		PACN2_HUMAN			Transcript			.	ENSP00000263246	3.31E-05	CCDS43023.1			1	
SPACA3	0	LGGM	GRCh37	17	31323931	31323931	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	19	7	.	.	ENST00000269053.3:c.414C>A	p.Thr138=	p.T138=	ENST00000269053	NM_173847.3	138	acC/acA	0	1	1	UPI00000361ED	0		ENST00000269053		ENSG00000141316	16260		26			HGNC	p.T138T		SPACA3		SNV							ENST00000269053	protein_coding			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		T		A		484/817							YES	SPACA3,synonymous_variant,p.=,ENST00000580599,;SPACA3,synonymous_variant,p.=,ENST00000269053,NM_173847.3;SPACA3,synonymous_variant,p.=,ENST00000394638,;SPACA3,non_coding_transcript_exon_variant,,ENST00000394637,;SPACA3,downstream_gene_variant,,ENST00000485015,;							LOW	414/648		SACA3_HUMAN			Transcript			.	ENSP00000269053		CCDS11275.1			1	
MTDH	0	LGGM	GRCh37	8	98703375	98703375	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	43	7	.	.	ENST00000336273.3:c.1007G>A	p.Trp336Ter	p.W336*	ENST00000336273	NM_178812.3	336	tGg/tAg	0	1	1	UPI0000061E17	0	NA	ENST00000336273		ENSG00000147649	29608		50	0		HGNC	p.W6X		MTDH		SNV							ENST00000521933	protein_coding	getma.org/?cm=var&var=hg19,8,98703375,G,A&fts=all		hmmpanther:PTHR23251:SF0,hmmpanther:PTHR23251		W/*		A	NA	1335/6177		NA					YES	MTDH,stop_gained,p.Trp336Ter,ENST00000336273,NM_178812.3;MTDH,stop_gained,p.Trp313Ter,ENST00000519934,;MTDH,stop_gained,p.Trp219Ter,ENST00000522313,;MTDH,stop_gained,p.Trp6Ter,ENST00000521933,;MTDH,stop_gained,p.Trp44Ter,ENST00000519293,;							HIGH	1007/1749	W336*	LYRIC_HUMAN			Transcript			.	ENSP00000338235		CCDS6274.1			1	
SPACA3	0	LGGM	GRCh37	17	31323930	31323930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	19	7	.	.	ENST00000269053.3:c.413C>A	p.Thr138Asn	p.T138N	ENST00000269053	NM_173847.3	138	aCc/aAc	0	1	1	UPI00000361ED	0	getma.org/pdb.php?prot=SACA3_HUMAN&from=88&to=213&var=T138N	ENST00000269053		ENSG00000141316	16260		26	1.925		HGNC	p.T138N		SPACA3		SNV							ENST00000269053	protein_coding	getma.org/?cm=var&var=hg19,17,31323930,C,A&fts=all		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		T/N		A	medium	483/817		getma.org/?cm=msa&ty=f&p=SACA3_HUMAN&rb=88&re=213&var=T138N	deleterious(0.01)				YES	SPACA3,missense_variant,p.Thr69Asn,ENST00000580599,;SPACA3,missense_variant,p.Thr138Asn,ENST00000269053,NM_173847.3;SPACA3,missense_variant,p.Thr35Asn,ENST00000394638,;SPACA3,non_coding_transcript_exon_variant,,ENST00000394637,;SPACA3,downstream_gene_variant,,ENST00000485015,;							MODERATE	413/648	T138N	SACA3_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000269053		CCDS11275.1			1	
ZRANB2	0	LGGM	GRCh37	1	71536673	71536673	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	7	.	.	ENST00000370920.3:c.520G>T	p.Asp174Tyr	p.D174Y	ENST00000370920	NM_203350.2	174	Gat/Tat	0	1	1	UPI000013CE63	0	NA	ENST00000370920		ENSG00000132485	13058		23	1.04		HGNC	p.D174Y		ZRANB2		SNV							ENST00000254821	protein_coding	getma.org/?cm=var&var=hg19,1,71536673,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12999,PIRSF_domain:PIRSF037956		D/Y		A	low	822/3078		getma.org/?cm=msa&ty=f&p=ZRAB2_HUMAN&rb=141&re=328&var=D174Y	deleterious(0)				YES	ZRANB2,missense_variant,p.Asp174Tyr,ENST00000370920,NM_203350.2;ZRANB2,missense_variant,p.Asp174Tyr,ENST00000254821,NM_005455.4;MIR186,upstream_gene_variant,,ENST00000384988,;ZRANB2-AS1,downstream_gene_variant,,ENST00000426999,;ZRANB2-AS1,downstream_gene_variant,,ENST00000450461,;ZRANB2,upstream_gene_variant,,ENST00000477096,;ZRANB2,upstream_gene_variant,,ENST00000487510,;ZRANB2,upstream_gene_variant,,ENST00000473260,;ZRANB2,upstream_gene_variant,,ENST00000479947,;							MODERATE	520/993	D174Y	ZRAB2_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000359958		CCDS659.1			1	
MCM6	0	LGGM	GRCh37	2	136605758	136605758	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	11	7	.	.	ENST00000264156.2:c.1918G>A	p.Val640Ile	p.V640I	ENST00000264156	NM_005915.5	640	Gtc/Atc	0	1	1	UPI0000001611	0	getma.org/pdb.php?prot=MCM6_HUMAN&from=333&to=657&var=V640I	ENST00000264156		ENSG00000076003	6949		18	2.065		HGNC	p.V640I		MCM6		SNV			1				ENST00000264156	protein_coding	getma.org/?cm=var&var=hg19,2,136605758,C,T&fts=all		Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF73,SMART_domains:SM00350,Superfamily_domains:SSF52540		V/I		T	medium	1979/3736		getma.org/?cm=msa&ty=f&p=MCM6_HUMAN&rb=333&re=657&var=V640I	tolerated(0.51)	Q53T61_HUMAN,Q4ZG57_HUMAN			YES	MCM6,missense_variant,p.Val640Ile,ENST00000264156,NM_005915.5;MCM6,splice_region_variant,,ENST00000492091,;MCM6,splice_region_variant,,ENST00000483902,;							MODERATE	1918/2466	V640I	MCM6_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000264156		CCDS2179.1			1	
SORCS1	0	LGGM	GRCh37	10	108489854	108489854	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	14	7	.	.	ENST00000344440.6:c.978T>C	p.Asn326=	p.N326=	ENST00000344440	NM_001206571.1	326	aaT/aaC	0	1		UPI00001AE866	0		ENST00000263054		ENSG00000108018	16697		21			HGNC	p.N326N		SORCS1		SNV							ENST00000263054	protein_coding			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,SMART_domains:SM00602		N		G		986/7272								SORCS1,synonymous_variant,p.=,ENST00000263054,NM_001206570.1,NM_052918.4;SORCS1,synonymous_variant,p.=,ENST00000344440,NM_001206571.1,NM_001206569.1,NM_001013031.2,NM_001206572.1;							LOW	978/3507		SORC1_HUMAN			Transcript			.	ENSP00000263054		CCDS7559.1			1	
NSF	0	LGGM	GRCh37	17	44788358	44788358	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	12	7	.	.	ENST00000398238.4:c.1500A>T	p.Ala500=	p.A500=	ENST00000398238	NM_006178.3	500	gcA/gcT	0	1	1	UPI000006D238	0		ENST00000398238		ENSG00000073969	8016		19			HGNC	p.A500A		NSF		SNV							ENST00000398238	protein_coding			hmmpanther:PTHR23078,Superfamily_domains:SSF52540		A		T		1607/3983				Q96D47_HUMAN,I3L338_HUMAN,I3L2G1_HUMAN,I3L0N3_HUMAN,I3L0L3_HUMAN,B4DH19_HUMAN,B4DFA2_HUMAN			YES	NSF,synonymous_variant,p.=,ENST00000398238,NM_006178.3;NSF,synonymous_variant,p.=,ENST00000225282,;NSF,synonymous_variant,p.=,ENST00000575068,;NSF,upstream_gene_variant,,ENST00000576346,;							LOW	1500/2235		NSF_HUMAN			Transcript			.	ENSP00000381293		CCDS42354.1			1	
TRPM2	0	LGGM	GRCh37	21	45799068	45799068	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	20	8	.	.	ENST00000397928.1:c.1203G>A	p.Glu401=	p.E401=	ENST00000397928	NM_003307.3	401	gaG/gaA	0	1		UPI0000169D60	0		ENST00000300482		ENSG00000142185	12339		28			HGNC	p.E401E		TRPM2		SNV							ENST00000300482	protein_coding			hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2		E		A		1416/5989				C9JZQ8_HUMAN				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,;							LOW	1203/4512		TRPM2_HUMAN			Transcript			.	ENSP00000300482		CCDS13710.1			1	
PPP6R3	0	LGGM	GRCh37	11	68355473	68355473	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	22	8	.	.	ENST00000393801.3:c.1711G>T	p.Asp571Tyr	p.D571Y	ENST00000393801	NM_001164160.1	571	Gat/Tat	0	1		UPI00001FADF3	0	NA	ENST00000393800		ENSG00000110075	1173		30	2.08		HGNC	p.D565Y		PPP6R3		SNV							ENST00000524904	protein_coding	getma.org/?cm=var&var=hg19,11,68355473,G,T&fts=all		hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634		D/Y		T	medium	1965/5093		getma.org/?cm=msa&ty=f&p=PP6R3_HUMAN&rb=514&re=713&var=D571Y	deleterious(0)	Q9H880_HUMAN,E9PNN8_HUMAN,E9PKG4_HUMAN,E9PK08_HUMAN,E9PJD8_HUMAN				PPP6R3,missense_variant,p.Asp571Tyr,ENST00000393799,;PPP6R3,missense_variant,p.Asp571Tyr,ENST00000393800,NM_001164161.1,NM_001164163.1,NM_001164162.1;PPP6R3,missense_variant,p.Asp571Tyr,ENST00000393801,NM_001164160.1;PPP6R3,missense_variant,p.Asp536Tyr,ENST00000527403,;PPP6R3,missense_variant,p.Asp491Tyr,ENST00000265636,NM_018312.4;PPP6R3,missense_variant,p.Asp525Tyr,ENST00000265637,;PPP6R3,missense_variant,p.Asp565Tyr,ENST00000524904,;PPP6R3,missense_variant,p.Asp491Tyr,ENST00000529710,NM_001164164.1;PPP6R3,missense_variant,p.Asp339Tyr,ENST00000534534,;PPP6R3,missense_variant,p.Asp542Tyr,ENST00000524845,;PPP6R3,missense_variant,p.Asp278Tyr,ENST00000534190,;PPP6R3,3_prime_UTR_variant,,ENST00000525421,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526307,;							MODERATE	1711/2622	D571Y	PP6R3_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000377389		CCDS53672.1			1	
PROKR1	0	LGGM	GRCh37	2	68882703	68882703	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	8	.	.	ENST00000303786.3:c.1177A>G	p.Lys393Glu	p.K393E	ENST00000303786		393	Aaa/Gaa	0	1	1	UPI000003EAA7	0	NA	ENST00000303786		ENSG00000169618	4524		24	1.795		HGNC	p.K393E		PROKR1		SNV							ENST00000394342	protein_coding	getma.org/?cm=var&var=hg19,2,68882703,A,G&fts=all				K/E		G	low	1597/1602		getma.org/?cm=msa&ty=f&p=PKR1_HUMAN&rb=343&re=393&var=K393E	deleterious_low_confidence(0.01)				YES	PROKR1,missense_variant,p.Lys393Glu,ENST00000303786,;PROKR1,missense_variant,p.Lys393Glu,ENST00000394342,NM_138964.2;							MODERATE	1177/1182	K393E	PKR1_HUMAN			Transcript		benign(0.15)	.	ENSP00000303775		CCDS1889.1			1	
DSP	0	LGGM	GRCh37	6	7583600	7583600	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	25	8	.	.	ENST00000379802.3:c.6105G>T	p.Lys2035Asn	p.K2035N	ENST00000379802	NM_004415.2	2035	aaG/aaT	0	1	1	UPI000013C67F	0	getma.org/pdb.php?prot=DESP_HUMAN&from=1950&to=2045&var=K2035N	ENST00000379802		ENSG00000096696	3052		33	1.7		HGNC	p.K2035N		DSP		SNV			1				ENST00000379802	protein_coding	getma.org/?cm=var&var=hg19,6,7583600,G,T&fts=all		Superfamily_domains:SSF75399,SMART_domains:SM00250,Gene3D:3.90.1290.10,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		K/N		T	low	6446/9796		getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=1950&re=2045&var=K2035N		G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,missense_variant,p.Lys2035Asn,ENST00000379802,NM_004415.2;DSP,missense_variant,p.Lys1436Asn,ENST00000418664,NM_001008844.1;							MODERATE	6105/8616	K2035N	DESP_HUMAN			Transcript		benign(0.316)	.	ENSP00000369129		CCDS4501.1			1	
NEURL4	0	LGGM	GRCh37	17	7229034	7229034	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	9	.	.	ENST00000399464.2:c.1294-2A>G		p.X432_splice	ENST00000399464	NM_032442.2			0	1	1	UPI000020081C	0		ENST00000399464		ENSG00000215041	34410		25			HGNC	-		NEURL4		SNV							ENST00000399464	protein_coding							C		-/5200							YES	NEURL4,splice_acceptor_variant,,ENST00000399464,NM_032442.2;NEURL4,splice_acceptor_variant,,ENST00000315614,NM_001005408.1;NEURL4,splice_acceptor_variant,,ENST00000570460,;NEURL4,splice_acceptor_variant,,ENST00000571887,;NEURL4,splice_acceptor_variant,,ENST00000573186,;NEURL4,splice_acceptor_variant,,ENST00000573651,;NEURL4,splice_acceptor_variant,,ENST00000576966,;NEURL4,splice_acceptor_variant,,ENST00000571243,;NEURL4,upstream_gene_variant,,ENST00000576485,;NEURL4,upstream_gene_variant,,ENST00000571508,;NEURL4,upstream_gene_variant,,ENST00000572029,;AC026954.6,upstream_gene_variant,,ENST00000429771,;							HIGH	1294/4689		NEUL4_HUMAN			Transcript			.	ENSP00000382390		CCDS42251.1			1	
CIC	0	LGGM	GRCh37	19	42793114	42793114	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	11	9	.	.	ENST00000575354.2:c.1006T>C	p.Cys336Arg	p.C336R	ENST00000575354	NM_015125.3	336	Tgt/Cgt	0	1	1	UPI000013C5A0	0	NA	ENST00000575354		ENSG00000079432	14214		20	0		HGNC	p.C1245R	rs547227741	CIC		SNV							ENST00000572681	protein_coding	getma.org/?cm=var&var=hg19,19,42793114,T,C&fts=all	C:0	hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059		C/R		C	neutral	1046/5473	1.52E-05	getma.org/?cm=msa&ty=f&p=CIC_HUMAN&rb=292&re=1606&var=C336R			C:0	C:0	YES	CIC,missense_variant,p.Cys1245Arg,ENST00000572681,;CIC,missense_variant,p.Cys336Arg,ENST00000160740,;CIC,missense_variant,p.Cys336Arg,ENST00000575354,NM_015125.3;CIC,upstream_gene_variant,,ENST00000576505,;CIC,upstream_gene_variant,,ENST00000573349,;CIC,downstream_gene_variant,,ENST00000575839,;CIC,upstream_gene_variant,,ENST00000575287,;		C:0.0002					MODERATE	1006/4827	C336R	CIC_HUMAN		C:0.001	Transcript		benign(0.403)	.	ENSP00000458663	8.24E-06	CCDS12601.1		C:0	1	
TMUB2	0	LGGM	GRCh37	17	42266833	42266833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	20	9	.	.	ENST00000587989.1:c.479G>T	p.Arg160Ile	p.R160I	ENST00000587989		160	aGa/aTa	0	1		UPI0000201381	0	NA	ENST00000538716		ENSG00000168591	28459		29	1.1		HGNC	p.E60D		TMUB2		SNV							ENST00000587775	protein_coding	getma.org/?cm=var&var=hg19,17,42266833,G,T&fts=all		hmmpanther:PTHR14557,hmmpanther:PTHR14557:SF4		R/I		T	low	632/1953		getma.org/?cm=msa&ty=f&p=TMUB2_HUMAN&rb=1&re=186&var=R160I	tolerated(0.18)					TMUB2,missense_variant,p.Arg140Ile,ENST00000319511,NM_177441.2;TMUB2,missense_variant,p.Arg160Ile,ENST00000587989,;TMUB2,missense_variant,p.Arg160Ile,ENST00000538716,NM_001076674.1;TMUB2,missense_variant,p.Arg140Ile,ENST00000357984,NM_024107.2;TMUB2,missense_variant,p.Arg140Ile,ENST00000589785,;TMUB2,missense_variant,p.Arg103Ile,ENST00000446571,;TMUB2,missense_variant,p.Arg140Ile,ENST00000589856,;TMUB2,missense_variant,p.Arg33Ile,ENST00000587630,;TMUB2,intron_variant,,ENST00000592825,;TMUB2,intron_variant,,ENST00000589184,;TMUB2,intron_variant,,ENST00000587172,;TMUB2,intron_variant,,ENST00000590235,;ATXN7L3,downstream_gene_variant,,ENST00000389384,NM_001098833.1;ATXN7L3,downstream_gene_variant,,ENST00000454077,NM_020218.1;ATXN7L3,downstream_gene_variant,,ENST00000591295,;ATXN7L3,downstream_gene_variant,,ENST00000587097,;ASB16-AS1,upstream_gene_variant,,ENST00000585457,;ASB16-AS1,upstream_gene_variant,,ENST00000591166,;ASB16-AS1,upstream_gene_variant,,ENST00000588785,;ASB16-AS1,upstream_gene_variant,,ENST00000592897,;ATXN7L3,downstream_gene_variant,,ENST00000593073,;TMUB2,missense_variant,p.Glu60Asp,ENST00000588413,;TMUB2,missense_variant,p.Glu60Asp,ENST00000587775,;TMUB2,3_prime_UTR_variant,,ENST00000587326,;ATXN7L3,downstream_gene_variant,,ENST00000586688,;							MODERATE	479/966	R160I	TMUB2_HUMAN			Transcript		benign(0.003)	.	ENSP00000444565		CCDS54134.1			1	
HMCN1	0	LGGM	GRCh37	1	186045611	186045611	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	21	9	.	.	ENST00000271588.4:c.8342G>T	p.Gly2781Val	p.G2781V	ENST00000271588	NM_031935.2	2781	gGc/gTc	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=2766&to=2864&var=G2781V	ENST00000271588		ENSG00000143341	19194		30	1.06		HGNC	p.G2781V		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186045611,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158		G/V		T	low	8571/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=2766&re=2864&var=G2781V					YES	HMCN1,missense_variant,p.Gly2781Val,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Gly2781Val,ENST00000367492,;							MODERATE	8342/16908	G2781V	HMCN1_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000271588		CCDS30956.1			1	
ZCCHC11	0	LGGM	GRCh37	1	52961128	52961128	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	22	9	.	.	ENST00000257177.4:c.1237G>A	p.Val413Ile	p.V413I	ENST00000257177		413	Gtt/Att	0	1		UPI00002371F6	0	NA	ENST00000371544		ENSG00000134744	28981		31	0.66		HGNC	p.V413I		ZCCHC11		SNV							ENST00000371544	protein_coding	getma.org/?cm=var&var=hg19,1,52961128,C,T&fts=all		Gene3D:3.30.460.10,hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF49,Superfamily_domains:SSF81301		V/I		T	neutral	1500/5858		getma.org/?cm=msa&ty=f&p=TUT4_HUMAN&rb=401&re=600&var=V413I	tolerated(0.37)	H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN				ZCCHC11,missense_variant,p.Val413Ile,ENST00000371544,NM_015269.2,NM_001009881.2;ZCCHC11,missense_variant,p.Val413Ile,ENST00000257177,;ZCCHC11,missense_variant,p.Val413Ile,ENST00000528642,;ZCCHC11,missense_variant,p.Val172Ile,ENST00000484723,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000371541,;ZCCHC11,3_prime_UTR_variant,,ENST00000473856,;							MODERATE	1237/4935	V413I	TUT4_HUMAN			Transcript		benign(0.085)	.	ENSP00000360599		CCDS30716.1			1	
HOXA2	0	LGGM	GRCh37	7	27140810	27140810	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	22	9	.	.	ENST00000222718.5:c.666A>G	p.Lys222=	p.K222=	ENST00000222718	NM_006735.3	222	aaA/aaG	0	1	1	UPI0000049C49	0		ENST00000222718		ENSG00000105996	5103		31			HGNC	p.K222K		HOXA2		SNV			1				ENST00000222718	protein_coding			hmmpanther:PTHR24326:SF42,hmmpanther:PTHR24326,Low_complexity_(Seg):seg		K		C		977/2066							YES	HOXA2,synonymous_variant,p.=,ENST00000222718,NM_006735.3;HOXA3,downstream_gene_variant,,ENST00000396352,NM_030661.4;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,;HOTAIRM1,downstream_gene_variant,,ENST00000495032,;							LOW	666/1131		HXA2_HUMAN			Transcript			.	ENSP00000222718		CCDS5403.1			1	
ALB	0	LGGM	GRCh37	4	74270079	74270079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	8	9	.	.	ENST00000295897.4:c.35T>C	p.Leu12Pro	p.L12P	ENST00000295897	NM_000477.5	12	cTc/cCc	0	1	1	UPI000002C1AC	0	NA	ENST00000295897		ENSG00000163631	399		17	2.62		HGNC	p.L12P		ALB		SNV			1				ENST00000295897	protein_coding	getma.org/?cm=var&var=hg19,4,74270079,T,C&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,PIRSF_domain:PIRSF002520		L/P		C	medium	124/2263		getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=1&re=57&var=L12P	deleterious(0)				YES	ALB,missense_variant,p.Leu12Pro,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Leu12Pro,ENST00000509063,;ALB,missense_variant,p.Leu12Pro,ENST00000401494,;ALB,missense_variant,p.Leu12Pro,ENST00000415165,;ALB,splice_region_variant,,ENST00000441319,;ALB,5_prime_UTR_variant,,ENST00000503124,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,intron_variant,,ENST00000514786,;ALB,upstream_gene_variant,,ENST00000505649,;ALB,missense_variant,p.Leu12Pro,ENST00000476441,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;							MODERATE	35/1830	L12P	ALBU_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000295897		CCDS3555.1			1	
SVIL	0	LGGM	GRCh37	10	29751328	29751328	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	22	9	.	.	ENST00000375398.2:c.6280A>C	p.Lys2094Gln	p.K2094Q	ENST00000375398		2094	Aaa/Caa	0	1		UPI0000366678	0	getma.org/pdb.php?prot=SVIL_HUMAN&from=1923&to=2122&var=K2094Q	ENST00000355867		ENSG00000197321	11480		31	2.645		HGNC	p.K1008Q		SVIL		SNV							ENST00000535393	protein_coding	getma.org/?cm=var&var=hg19,10,29751328,T,G&fts=all		hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28,Gene3D:3.40.20.10,Superfamily_domains:SSF55753		K/Q		G	medium	7033/7586		getma.org/?cm=msa&ty=f&p=SVIL_HUMAN&rb=1923&re=2122&var=K2094Q	deleterious(0)	Q569J5_HUMAN				SVIL,missense_variant,p.Lys2094Gln,ENST00000375398,;SVIL,missense_variant,p.Lys2094Gln,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Lys1668Gln,ENST00000375400,NM_003174.3;SVIL,missense_variant,p.Lys1008Gln,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,;							MODERATE	6280/6645	K2094Q	SVIL_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000348128		CCDS7164.1			1	
HDC	0	LGGM	GRCh37	15	50535108	50535108	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	21	10	.	.	ENST00000267845.3:c.1338C>A	p.Ile446=	p.I446=	ENST00000267845	NM_002112.3	446	atC/atA	0	1	1	UPI0000128FB4	0		ENST00000267845		ENSG00000140287	4855		31			HGNC	p.I413I		HDC		SNV							ENST00000543581	protein_coding			hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		I		T		1741/2705							YES	HDC,synonymous_variant,p.=,ENST00000267845,NM_002112.3;HDC,synonymous_variant,p.=,ENST00000543581,;RN7SL494P,downstream_gene_variant,,ENST00000461517,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;							LOW	1338/1989		DCHS_HUMAN			Transcript			.	ENSP00000267845		CCDS10134.1			1	
MCM3	0	LGGM	GRCh37	6	52133984	52133984	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	13	10	.	.	ENST00000596288.1:c.2003G>T	p.Arg668Leu	p.R668L	ENST00000596288	NM_002388.4	668	cGa/cTa	0	1		UPI000012ED97	0	getma.org/pdb.php?prot=MCM3_HUMAN&from=280&to=654&var=R623L	ENST00000229854		ENSG00000112118	6945		23	5.015		HGNC	p.R118L		MCM3		SNV							ENST00000421471	protein_coding	getma.org/?cm=var&var=hg19,6,52133984,C,A&fts=all		Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,SMART_domains:SM00350,Superfamily_domains:SSF52540		R/L		A	high	1945/3083		getma.org/?cm=msa&ty=f&p=MCM3_HUMAN&rb=280&re=654&var=R623L	deleterious(0)	Q8NHX6_HUMAN				MCM3,missense_variant,p.Arg668Leu,ENST00000596288,NM_002388.4;MCM3,missense_variant,p.Arg623Leu,ENST00000229854,;MCM3,missense_variant,p.Arg577Leu,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Arg118Leu,ENST00000421471,;							MODERATE	1868/2427	R623L	MCM3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000229854					1	
FMO2	0	LGGM	GRCh37	1	171173070	171173070	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	14	10	.	.	ENST00000441535.1:c.694G>A	p.Asp232Asn	p.D232N	ENST00000441535	NM_001460.3	232	Gac/Aac	0	1		UPI000013C672	0	getma.org/pdb.php?prot=FMO2_HUMAN&from=2&to=471&var=D232N	ENST00000209929		ENSG00000094963	3770		24	3.355		HGNC	p.D232N		FMO2		SNV							ENST00000441535	protein_coding	getma.org/?cm=var&var=hg19,1,171173070,G,A&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF84,Superfamily_domains:SSF51905		D/N		A	medium	852/3851		getma.org/?cm=msa&ty=f&p=FMO2_HUMAN&rb=2&re=471&var=D232N	tolerated(0.08)	B4E2Q9_HUMAN				FMO2,missense_variant,p.Asp232Asn,ENST00000441535,NM_001460.3;FMO2,missense_variant,p.Asp232Asn,ENST00000209929,;RP1-127D3.4,non_coding_transcript_exon_variant,,ENST00000422841,;RP1-127D3.4,non_coding_transcript_exon_variant,,ENST00000445909,;RP1-127D3.4,intron_variant,,ENST00000445290,;FMO2,non_coding_transcript_exon_variant,,ENST00000529935,;FMO2,non_coding_transcript_exon_variant,,ENST00000489354,;FMO2,upstream_gene_variant,,ENST00000488431,;							MODERATE	694/1416	D232N	FMO2_HUMAN			Transcript		possibly_damaging(0.585)	.	ENSP00000209929		CCDS1293.1			1	
ADAM28	0	LGGM	GRCh37	8	24167431	24167431	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	39	10	.	.	ENST00000265769.4:c.175T>G	p.Tyr59Asp	p.Y59D	ENST00000265769	NM_014265.4	59	Tat/Gat	0	1	1	UPI000049E0B9	0	NA	ENST00000265769		ENSG00000042980	206		49	3.705		HGNC	p.Y59D		ADAM28		SNV							ENST00000437154	protein_coding	getma.org/?cm=var&var=hg19,8,24167431,T,G&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01562		Y/D		G	high	285/7052		getma.org/?cm=msa&ty=f&p=ADA28_HUMAN&rb=28&re=156&var=Y59D	deleterious(0)	E5RGY1_HUMAN			YES	ADAM28,missense_variant,p.Tyr59Asp,ENST00000265769,NM_014265.4;ADAM28,missense_variant,p.Tyr59Asp,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,missense_variant,p.Tyr59Asp,ENST00000520448,;ADAM28,3_prime_UTR_variant,,ENST00000523379,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523440,;							MODERATE	175/2328	Y59D	ADA28_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265769		CCDS34865.1			1	
HDC	0	LGGM	GRCh37	15	50535107	50535107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	20	11	.	.	ENST00000267845.3:c.1339C>A	p.Arg447Ser	p.R447S	ENST00000267845	NM_002112.3	447	Cgt/Agt	0	1	1	UPI0000128FB4	0	getma.org/pdb.php?prot=DCHS_HUMAN&from=415&to=614&var=R447S	ENST00000267845		ENSG00000140287	4855		31	2.43		HGNC	p.R414S		HDC		SNV							ENST00000543581	protein_coding	getma.org/?cm=var&var=hg19,15,50535107,G,T&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF68,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		R/S		T	medium	1742/2705		getma.org/?cm=msa&ty=f&p=DCHS_HUMAN&rb=415&re=614&var=R447S	deleterious(0)				YES	HDC,missense_variant,p.Arg447Ser,ENST00000267845,NM_002112.3;HDC,missense_variant,p.Arg414Ser,ENST00000543581,;RN7SL494P,downstream_gene_variant,,ENST00000461517,;HDC,non_coding_transcript_exon_variant,,ENST00000559816,;							MODERATE	1339/1989	R447S	DCHS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000267845		CCDS10134.1			1	
ANKRD13B	0	LGGM	GRCh37	17	27939246	27939246	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	22	11	.	.	ENST00000394859.3:c.1213G>T	p.Asp405Tyr	p.D405Y	ENST00000394859	NM_152345.4	405	Gac/Tac	0	1	1	UPI0000246D82	0	NA	ENST00000394859		ENSG00000198720	26363		33	3.125		HGNC	p.D405Y		ANKRD13B		SNV							ENST00000488766	protein_coding	getma.org/?cm=var&var=hg19,17,27939246,G,T&fts=all		hmmpanther:PTHR12447:SF3,hmmpanther:PTHR12447,Pfam_domain:PF11904		D/Y		T	medium	1367/3214		getma.org/?cm=msa&ty=f&p=AN13B_HUMAN&rb=163&re=491&var=D405Y	deleterious(0)	K7ENT0_HUMAN			YES	ANKRD13B,missense_variant,p.Asp405Tyr,ENST00000394859,NM_152345.4;CORO6,downstream_gene_variant,,ENST00000345068,;CORO6,downstream_gene_variant,,ENST00000445145,;CORO6,downstream_gene_variant,,ENST00000388767,NM_032854.3;CORO6,downstream_gene_variant,,ENST00000580212,;CORO6,downstream_gene_variant,,ENST00000456796,;CORO6,downstream_gene_variant,,ENST00000584969,;ANKRD13B,downstream_gene_variant,,ENST00000583728,;ANKRD13B,upstream_gene_variant,,ENST00000579719,;RP11-68I3.2,intron_variant,,ENST00000581474,;CORO6,downstream_gene_variant,,ENST00000577909,;ANKRD13B,missense_variant,p.Asp405Tyr,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,;							MODERATE	1213/1881	D405Y	AN13B_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000378328		CCDS11251.1			1	
OR5AP2	0	LGGM	GRCh37	11	56409501	56409501	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	18	11	.	.	ENST00000302981.1:c.415C>T	p.Pro139Ser	p.P139S	ENST00000302981	NM_001002925.1	139	Cca/Tca	0	1	1	UPI0000061EE6	0	NA	ENST00000302981		ENSG00000172464	15258		29	-0.24		HGNC	p.P139S		OR5AP2		SNV							ENST00000302981	protein_coding	getma.org/?cm=var&var=hg19,11,56409501,G,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Superfamily_domains:SSF81321		P/S		A	neutral	415/951		getma.org/?cm=msa&ty=f&p=O5AP2_HUMAN&rb=1&re=144&var=P139S	tolerated(0.44)				YES	OR5AP2,missense_variant,p.Pro140Ser,ENST00000544374,;OR5AP2,missense_variant,p.Pro139Ser,ENST00000302981,NM_001002925.1;AP002517.1,downstream_gene_variant,,ENST00000584225,;							MODERATE	415/951	P139S	O5AP2_HUMAN			Transcript		benign(0.005)	.	ENSP00000303111		CCDS31534.1			1	
KRTAP4-8	0	LGGM	GRCh37	17	39254243	39254243	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	31	11	.	.	ENST00000333822.4:c.94A>G	p.Thr32Ala	p.T32A	ENST00000333822	NM_031960.2	32	Acc/Gcc	0	1	1	UPI0000366BFD	0	NA	ENST00000333822		ENSG00000204880	17230		42	1.965		HGNC	p.T32A		KRTAP4-8		SNV							ENST00000333822	protein_coding	getma.org/?cm=var&var=hg19,17,39254243,T,C&fts=all		Pfam_domain:PF13885,hmmpanther:PTHR23262,Low_complexity_(Seg):seg		T/A		C	medium	151/1161		getma.org/?cm=msa&ty=f&p=KRA48_HUMAN&rb=1&re=33&var=T32A	tolerated(0.1)				YES	KRTAP4-8,missense_variant,p.Thr32Ala,ENST00000333822,NM_031960.2;KRTAP4-16P,downstream_gene_variant,,ENST00000440582,;							MODERATE	94/558	T32A	KRA48_HUMAN			Transcript		unknown(0)	.	ENSP00000328444		CCDS45674.1			1	
EEF2	0	LGGM	GRCh37	19	3979402	3979402	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	8	11	.	.	ENST00000309311.6:c.1638C>T	p.Ile546=	p.I546=	ENST00000309311	NM_001961.3	546	atC/atT	0	1	1	UPI00001649F3	0		ENST00000309311		ENSG00000167658	3214		19			HGNC	p.I546I	rs763625412	EEF2		SNV			1				ENST00000309311	protein_coding			hmmpanther:PTHR23115:SF103,hmmpanther:PTHR23115,Pfam_domain:PF14492,Gene3D:3.30.70.870,Superfamily_domains:SSF54980		I		A		1727/3164				Q8TA90_HUMAN,B4DMC6_HUMAN			YES	EEF2,synonymous_variant,p.=,ENST00000309311,NM_001961.3;EEF2,upstream_gene_variant,,ENST00000600794,;SNORD37,downstream_gene_variant,,ENST00000384048,NR_002602.1;EEF2,downstream_gene_variant,,ENST00000600720,;EEF2,non_coding_transcript_exon_variant,,ENST00000596417,;EEF2,downstream_gene_variant,,ENST00000598182,;EEF2,downstream_gene_variant,,ENST00000594885,;EEF2,downstream_gene_variant,,ENST00000598436,;							LOW	1638/2577		EF2_HUMAN			Transcript			.	ENSP00000307940		CCDS12117.1			1	
CASC5	0	LGGM	GRCh37	15	40915262	40915262	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	26	11	.	.	ENST00000346991.5:c.2878A>T	p.Ile960Leu	p.I960L	ENST00000346991		960	Ata/Tta	0	1	1	UPI0000E59BD3	0	NA	ENST00000346991		ENSG00000137812	24054		37	2.045		HGNC	p.I960L		CASC5		SNV			1				ENST00000346991	protein_coding	getma.org/?cm=var&var=hg19,15,40915262,A,T&fts=all		hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2		I/L		T	medium	3268/9573		getma.org/?cm=msa&ty=f&p=CASC5_HUMAN&rb=1&re=2177&var=I960L	tolerated(0.21)				YES	CASC5,missense_variant,p.Ile960Leu,ENST00000346991,;CASC5,missense_variant,p.Ile934Leu,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,3_prime_UTR_variant,,ENST00000527044,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;							MODERATE	2878/7029	I960L	CASC5_HUMAN			Transcript		benign(0.173)	.	ENSP00000335463		CCDS42023.1			1	
NUDT6	0	LGGM	GRCh37	4	123838821	123838821	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	16	11	.	.	ENST00000304430.5:c.277G>C	p.Val93Leu	p.V93L	ENST00000304430	NM_007083.4	93	Gta/Cta	0	1	1	UPI00001308E2	0	getma.org/pdb.php?prot=NUDT6_HUMAN&from=1&to=141&var=V93L	ENST00000304430		ENSG00000170917	8053		27	2.25		HGNC	p.V93L	rs771597620	NUDT6		SNV							ENST00000304430	protein_coding	getma.org/?cm=var&var=hg19,4,123838821,C,G&fts=all		hmmpanther:PTHR13994,hmmpanther:PTHR13994:SF8		V/L		G	medium	311/1169	1.50E-05	getma.org/?cm=msa&ty=f&p=NUDT6_HUMAN&rb=1&re=141&var=V93L	tolerated(0.06)				YES	NUDT6,missense_variant,p.Val93Leu,ENST00000304430,NM_007083.4;NUDT6,5_prime_UTR_variant,,ENST00000339154,NM_198041.2;NUDT6,intron_variant,,ENST00000510735,;NUDT6,upstream_gene_variant,,ENST00000502270,;NUDT6,3_prime_UTR_variant,,ENST00000512116,;NUDT6,3_prime_UTR_variant,,ENST00000503370,;NUDT6,non_coding_transcript_exon_variant,,ENST00000513517,;							MODERATE	277/951	V93L	NUDT6_HUMAN			Transcript		benign(0.123)	.	ENSP00000306070	8.27E-06	CCDS43268.1			1	
TRMT13	0	LGGM	GRCh37	1	100613724	100613724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	27	12	.	.	ENST00000370141.2:c.1092C>A	p.Phe364Leu	p.F364L	ENST00000370141	NM_019083.2	364	ttC/ttA	0	1	1	UPI000013CAE6	0	NA	ENST00000370141		ENSG00000122435	25502		39	-0.55		HGNC	p.F364L		TRMT13		SNV							ENST00000370141	protein_coding	getma.org/?cm=var&var=hg19,1,100613724,C,A&fts=all		Pfam_domain:PF05206,hmmpanther:PTHR12998,hmmpanther:PTHR12998:SF0		F/L		A	neutral	1098/3129		getma.org/?cm=msa&ty=f&p=TRM13_HUMAN&rb=165&re=470&var=F364L	tolerated(0.31)				YES	TRMT13,missense_variant,p.Phe364Leu,ENST00000370141,NM_019083.2;LRRC39,downstream_gene_variant,,ENST00000370138,NM_001256385.1;LRRC39,downstream_gene_variant,,ENST00000370137,NM_001256386.1,NM_144620.3;LRRC39,downstream_gene_variant,,ENST00000342895,NM_001256387.1;TRMT13,downstream_gene_variant,,ENST00000493651,;TRMT13,downstream_gene_variant,,ENST00000482437,;							MODERATE	1092/1446	F364L	TRM13_HUMAN			Transcript		benign(0.17)	.	ENSP00000359160		CCDS765.1			1	
ITPR3	0	LGGM	GRCh37	6	33660505	33660505	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	21	12	.	.	ENST00000374316.5:c.7459G>A	p.Glu2487Lys	p.E2487K	ENST00000374316		2487	Gag/Aag	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		33	3.105		HGNC	p.E2487K		ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33660505,G,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		E/K		A	medium	8519/9870		getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=2205&re=2516&var=E2487K	deleterious(0)	A6H8K3_HUMAN			YES	ITPR3,missense_variant,p.Glu2487Lys,ENST00000374316,;ITPR3,missense_variant,p.Glu2487Lys,ENST00000605930,NM_002224.3;UQCC2,downstream_gene_variant,,ENST00000607484,NM_032340.3;UQCC2,downstream_gene_variant,,ENST00000374231,;UQCC2,downstream_gene_variant,,ENST00000374214,;SBP1,downstream_gene_variant,,ENST00000594414,;UQCC2,downstream_gene_variant,,ENST00000606961,;							MODERATE	7459/8016	E2487K	ITPR3_HUMAN			Transcript		possibly_damaging(0.704)	.	ENSP00000363435		CCDS4783.1			1	
NTF3	0	LGGM	GRCh37	12	5603797	5603797	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	12	12	.	.	ENST00000423158.3:c.456C>T	p.Tyr152=	p.Y152=	ENST00000423158	NM_001102654.1	152	taC/taT	0	1		UPI0000048FDB	0		ENST00000331010		ENSG00000185652	8023		24			HGNC	p.Y139Y	COSM3968308	NTF3		SNV						1	ENST00000331010	protein_coding			Gene3D:2.10.90.10,PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4,Superfamily_domains:SSF57501		Y		T		500/1167								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,;					1		LOW	417/774		NTF3_HUMAN			Transcript			.	ENSP00000328738		CCDS8538.1			1	
MED12	0	LGGM	GRCh37	X	70357700	70357700	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	7	13	.	.	ENST00000374080.3:c.5951T>C	p.Leu1984Pro	p.L1984P	ENST00000374080		1984	cTt/cCt	0	1	1	UPI00004257E2	0	NA	ENST00000374080		ENSG00000184634	11957		20	1.59		HGNC	p.L1983P		MED12		SNV			1				ENST00000374102	protein_coding	getma.org/?cm=var&var=hg19,X,70357700,T,C&fts=all		Pfam_domain:PF12144,hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4		L/P		C	low	5983/6795		getma.org/?cm=msa&ty=f&p=MED12_HUMAN&rb=1817&re=2020&var=L1984P		Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN			YES	MED12,missense_variant,p.Leu1987Pro,ENST00000333646,NM_005120.2;MED12,missense_variant,p.Leu1983Pro,ENST00000374102,;MED12,missense_variant,p.Leu1984Pro,ENST00000374080,;MED12,splice_region_variant,,ENST00000444034,;AL590764.1,upstream_gene_variant,,ENST00000579622,;							MODERATE	5951/6534	L1984P	MED12_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000363193		CCDS43970.1			1	
MCF2L	0	LGGM	GRCh37	13	113738328	113738328	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	24	13	.	.	ENST00000535094.2:c.2008C>T	p.Leu670=	p.L670=	ENST00000535094	NM_001112732.2	670	Ctg/Ttg	0	1		UPI0000458952	0		ENST00000375608		ENSG00000126217	14576		37			HGNC	p.L674L		MCF2L		SNV							ENST00000375601	protein_coding			PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065		L		T		2156/3648				B7ZBR9_HUMAN				MCF2L,synonymous_variant,p.=,ENST00000397030,;MCF2L,synonymous_variant,p.=,ENST00000375601,;MCF2L,synonymous_variant,p.=,ENST00000375604,;MCF2L,synonymous_variant,p.=,ENST00000397017,;MCF2L,synonymous_variant,p.=,ENST00000535094,NM_001112732.2;MCF2L,synonymous_variant,p.=,ENST00000375608,;MCF2L,synonymous_variant,p.=,ENST00000423482,NM_024979.4;MCF2L,synonymous_variant,p.=,ENST00000434480,;MCF2L,synonymous_variant,p.=,ENST00000421756,;MCF2L,synonymous_variant,p.=,ENST00000442652,;MCF2L,synonymous_variant,p.=,ENST00000375597,;MCF2L,upstream_gene_variant,,ENST00000261963,;MCF2L,upstream_gene_variant,,ENST00000453297,;MCF2L,upstream_gene_variant,,ENST00000413354,;MCF2L,upstream_gene_variant,,ENST00000439475,;MCF2L,upstream_gene_variant,,ENST00000487354,;							LOW	2098/3414		MCF2L_HUMAN			Transcript			.	ENSP00000364758					1	
OR2AG1	0	LGGM	GRCh37	11	6806363	6806363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	32	13	.	.	ENST00000307401.4:c.95C>A	p.Thr32Lys	p.T32K	ENST00000307401	NM_001004489.2	32	aCa/aAa	0	1	1	UPI00000015AF	0	getma.org/pdb.php?prot=O2AG1_HUMAN&from=1&to=138&var=T32K	ENST00000307401		ENSG00000170803	15142		45	1.28		HGNC	p.T32K		OR2AG1		SNV							ENST00000307401	protein_coding	getma.org/?cm=var&var=hg19,11,6806363,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183		T/K		A	low	116/998		getma.org/?cm=msa&ty=f&p=O2AG1_HUMAN&rb=1&re=138&var=T32K	tolerated(0.1)				YES	OR2AG1,missense_variant,p.Thr32Lys,ENST00000307401,NM_001004489.2;							MODERATE	95/951	T32K	O2AG1_HUMAN			Transcript		benign(0.342)	.	ENSP00000307447		CCDS31414.1			1	
CPEB1	0	LGGM	GRCh37	15	83240211	83240211	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	17	15	.	.	ENST00000568128.1:c.262G>C	p.Gly88Arg	p.G88R	ENST00000568128	NM_030594.3	88	Ggc/Cgc	0	1	1	UPI000018CEBD	0	NA	ENST00000568128		ENSG00000214575	21744		32	0.695		HGNC	p.G13R		CPEB1		SNV							ENST00000568757	protein_coding	getma.org/?cm=var&var=hg19,15,83240211,C,G&fts=all		hmmpanther:PTHR12566		G/R		G	neutral	369/2112		getma.org/?cm=msa&ty=f&p=CPEB1_HUMAN&rb=1&re=200&var=G88R	deleterious_low_confidence(0)	H3BPD6_HUMAN,H3BNX1_HUMAN,G8JLI7_HUMAN			YES	CPEB1,missense_variant,p.Gly115Arg,ENST00000563800,;CPEB1,missense_variant,p.Gly13Arg,ENST00000450751,NM_001288819.1;CPEB1,missense_variant,p.Gly88Arg,ENST00000562019,;CPEB1,missense_variant,p.Gly13Arg,ENST00000398591,NM_001079534.1,NM_001079533.1,NM_001079535.1;CPEB1,missense_variant,p.Gly13Arg,ENST00000568757,;CPEB1,missense_variant,p.Gly88Arg,ENST00000568128,NM_030594.3;CPEB1,missense_variant,p.Gly13Arg,ENST00000423133,;CPEB1,missense_variant,p.Gly91Arg,ENST00000261723,;CPEB1,missense_variant,p.Gly13Arg,ENST00000564522,;CPEB1,missense_variant,p.Gly13Arg,ENST00000567678,;CPEB1,missense_variant,p.Gly13Arg,ENST00000568994,;CPEB1,missense_variant,p.Gly13Arg,ENST00000569257,;CPEB1,5_prime_UTR_variant,,ENST00000398592,;CPEB1,missense_variant,p.Gly13Arg,ENST00000570229,;CPEB1,upstream_gene_variant,,ENST00000570205,;							MODERATE	262/1686	G88R	CPEB1_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000457881		CCDS45329.1			1	
CDC25B	0	LGGM	GRCh37	20	3781994	3781994	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	66	15	.	.	ENST00000245960.5:c.799G>C	p.Glu267Gln	p.E267Q	ENST00000245960	NM_021873.2	267	Gaa/Caa	0	1	1	UPI000012F474	0	NA	ENST00000245960		ENSG00000101224	1726		81	2.045		HGNC	p.E203Q		CDC25B		SNV							ENST00000344256	protein_coding	getma.org/?cm=var&var=hg19,20,3781994,G,C&fts=all		hmmpanther:PTHR10828:SF46,hmmpanther:PTHR10828,Pfam_domain:PF06617		E/Q		C	medium	1496/3594		getma.org/?cm=msa&ty=f&p=MPIP2_HUMAN&rb=113&re=384&var=E267Q	deleterious(0.01)	D3DVY6_HUMAN,B3KS38_HUMAN			YES	CDC25B,missense_variant,p.Glu267Gln,ENST00000245960,NM_021873.2,NM_004358.3,NM_021872.2,NM_001287520.1,NM_001287519.1;CDC25B,missense_variant,p.Glu253Gln,ENST00000439880,NM_001287519.1;CDC25B,missense_variant,p.Glu203Gln,ENST00000344256,;CDC25B,missense_variant,p.Glu226Gln,ENST00000340833,;CDC25B,missense_variant,p.Glu203Gln,ENST00000379598,;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,non_coding_transcript_exon_variant,,ENST00000480816,;CDC25B,upstream_gene_variant,,ENST00000468979,;CDC25B,upstream_gene_variant,,ENST00000495915,;							MODERATE	799/1743	E267Q	MPIP2_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000245960		CCDS13067.1			1	
CXorf58	0	LGGM	GRCh37	X	23953512	23953512	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	8	18	.	.	ENST00000379211.3:c.755A>T	p.Lys252Met	p.K252M	ENST00000379211	NM_001169574.1	252	aAg/aTg	0	1	1	UPI00001AEC5F	0	NA	ENST00000379211		ENSG00000165182	26356		26	0		HGNC	p.K252M		CXorf58		SNV							ENST00000379211	protein_coding	getma.org/?cm=var&var=hg19,X,23953512,A,T&fts=all				K/M		T	neutral	1304/1752		getma.org/?cm=msa&ty=f&p=CX058_HUMAN&rb=64&re=298&var=K252M	tolerated(0.07)				YES	CXorf58,missense_variant,p.Lys252Met,ENST00000379211,NM_001169574.1,NM_152761.2;							MODERATE	755/999	K252M	CX058_HUMAN			Transcript		possibly_damaging(0.59)	.	ENSP00000368511		CCDS14209.1			1	
FBN2	0	LGGM	GRCh37	5	127697431	127697431	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	20	18	.	.	ENST00000508053.1:c.2539A>G	p.Thr847Ala	p.T847A	ENST00000508053		847	Aca/Gca	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=810&to=850&var=T847A	ENST00000262464		ENSG00000138829	3604		38	0.875		HGNC	p.T847A		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127697431,T,C&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		T/A		C	low	2978/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=810&re=850&var=T847A	deleterious(0.04)					FBN2,missense_variant,p.Thr847Ala,ENST00000508053,;FBN2,missense_variant,p.Thr847Ala,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Thr814Ala,ENST00000508989,;FBN2,downstream_gene_variant,,ENST00000511489,;							MODERATE	2539/8739	T847A	FBN2_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000262464		CCDS34222.1			1	
RUNX1T1	0	LGGM	GRCh37	8	93017514	93017514	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	7	19	.	.	ENST00000436581.2:c.603C>A	p.Pro201=	p.P201=	ENST00000436581		201	ccC/ccA	0	1		UPI000012F7B4	0		ENST00000265814		ENSG00000079102	1535		26			HGNC	p.P153P		RUNX1T1		SNV			1				ENST00000360348	protein_coding			Superfamily_domains:SSF158553,SMART_domains:SM00549,Pfam_domain:PF07531,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5,PROSITE_profiles:PS51119		P		T		654/3217				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				RUNX1T1,synonymous_variant,p.=,ENST00000523629,NM_175634.2,NM_001198633.1,NM_001198630.1,NM_001198626.1;RUNX1T1,synonymous_variant,p.=,ENST00000396218,NM_004349.3;RUNX1T1,synonymous_variant,p.=,ENST00000265814,NM_001198628.1,NM_001198631.1,NM_001198629.1;RUNX1T1,synonymous_variant,p.=,ENST00000518844,NM_001198627.1,NM_001198625.1;RUNX1T1,synonymous_variant,p.=,ENST00000422361,NM_175636.2;RUNX1T1,synonymous_variant,p.=,ENST00000360348,NM_175635.2,NM_001198632.1;RUNX1T1,synonymous_variant,p.=,ENST00000520724,NM_001198679.1,NM_001198634.1;RUNX1T1,synonymous_variant,p.=,ENST00000436581,;RUNX1T1,synonymous_variant,p.=,ENST00000521553,;RUNX1T1,synonymous_variant,p.=,ENST00000518992,;RUNX1T1,synonymous_variant,p.=,ENST00000521054,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000522316,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520047,;RUNX1T1,downstream_gene_variant,,ENST00000523290,;RUNX1T1,upstream_gene_variant,,ENST00000520978,;RUNX1T1,upstream_gene_variant,,ENST00000518361,;							LOW	570/1815		MTG8_HUMAN			Transcript			.	ENSP00000265814		CCDS6256.1			1	
MAP10	0	LGGM	GRCh37	1	232942740	232942740	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	37	21	.	.	ENST00000418460.1:c.1971G>T	p.Leu657Phe	p.L657F	ENST00000418460	NM_019090.2	657	ttG/ttT	0	1	1	UPI0000418F25	0	NA	ENST00000418460		ENSG00000212916	29265		58	2.175		HGNC	p.L657F		MAP10		SNV							ENST00000418460	protein_coding	getma.org/?cm=var&var=hg19,1,232942740,G,T&fts=all		hmmpanther:PTHR21831,hmmpanther:PTHR21831:SF1,Pfam_domain:PF14925		L/F		T	medium	2098/5450		getma.org/?cm=msa&ty=f&p=K1383_HUMAN&rb=429&re=557&var=L515F	deleterious(0)				YES	MAP10,missense_variant,p.Leu657Phe,ENST00000418460,NM_019090.2;							MODERATE	1971/3144	L515F	MAP10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000403208		CCDS44334.1			1	
NUFIP1	0	LGGM	GRCh37	13	45533698	45533698	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	39	23	.	.	ENST00000379161.4:c.839G>A	p.Gly280Glu	p.G280E	ENST00000379161	NM_012345.2	280	gGg/gAg	0	1	1	UPI000013C768	0	NA	ENST00000379161		ENSG00000083635	8057		62	2.455		HGNC	p.G280E		NUFIP1		SNV							ENST00000379161	protein_coding	getma.org/?cm=var&var=hg19,13,45533698,C,T&fts=all		hmmpanther:PTHR13309		G/E		T	medium	886/3492		getma.org/?cm=msa&ty=f&p=NUFP1_HUMAN&rb=270&re=469&var=G280E	deleterious(0)				YES	NUFIP1,missense_variant,p.Gly280Glu,ENST00000379161,NM_012345.2;							MODERATE	839/1488	G280E	NUFP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368459		CCDS9393.1			1	
DRP2	0	LGGM	GRCh37	X	100486672	100486672	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060509	H060509N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	13	25	.	.	ENST00000395209.3:c.36C>T	p.Thr12=	p.T12=	ENST00000395209	NM_001939.2	12	acC/acT	0	1	1	UPI000013D388	0		ENST00000395209		ENSG00000102385	3032		38			HGNC	p.T12T		DRP2		SNV							ENST00000372916	protein_coding			hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205		T		T		563/7277							YES	DRP2,synonymous_variant,p.=,ENST00000395209,NM_001939.2;DRP2,synonymous_variant,p.=,ENST00000402866,;DRP2,synonymous_variant,p.=,ENST00000538510,;DRP2,intron_variant,,ENST00000541709,NM_001171184.1;DRP2,synonymous_variant,p.=,ENST00000372916,;							LOW	36/2874		DRP2_HUMAN			Transcript			.	ENSP00000378635		CCDS14480.2			1	
OR1L1	0	LGGM	GRCh37	9	125424560	125424560	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	64	26	.	.	ENST00000309623.1:c.566G>C	p.Cys189Ser	p.C189S	ENST00000309623	NM_001005236.3	189	tGt/tCt	0	1		UPI0000D61902	0	NA	ENST00000373686		ENSG00000173679	8213		90	2.89		HGNC	p.C239S		OR1L1		SNV							ENST00000373686	protein_coding	getma.org/?cm=var&var=hg19,9,125424560,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF39,Superfamily_domains:SSF81321		C/S		C	medium	716/1083		getma.org/?cm=msa&ty=f&p=OR1L1_HUMAN&rb=189&re=332&var=C239S	deleterious(0)					OR1L1,missense_variant,p.Cys239Ser,ENST00000373686,;OR1L1,missense_variant,p.Cys189Ser,ENST00000309623,NM_001005236.3;							MODERATE	716/1083	C239S	OR1L1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000362790					1	
KLHL14	0	LGGM	GRCh37	18	30254732	30254732	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	55	27	.	.	ENST00000359358.4:c.1775A>G	p.Tyr592Cys	p.Y592C	ENST00000359358	NM_020805.1	592	tAt/tGt	0	1	1	UPI00001C1FF2	0	NA	ENST00000359358		ENSG00000197705	29266		82	3.705		HGNC	p.Y592C		KLHL14		SNV							ENST00000359358	protein_coding	getma.org/?cm=var&var=hg19,18,30254732,T,C&fts=all		Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Pfam_domain:PF01344,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF60		Y/C		C	high	2214/4312		getma.org/?cm=msa&ty=f&p=KLH14_HUMAN&rb=559&re=603&var=Y592C	deleterious(0)				YES	KLHL14,missense_variant,p.Tyr592Cys,ENST00000359358,NM_020805.1;							MODERATE	1775/1887	Y592C	KLH14_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000352314		CCDS32813.1			1	
ZNF594	0	LGGM	GRCh37	17	5085436	5085436	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060509	H060509N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	38	27	.	.	ENST00000399604.4:c.2116A>C	p.Lys706Gln	p.K706Q	ENST00000399604		706	Aaa/Caa	0	1	1	UPI00001C1FDF	0	getma.org/pdb.php?prot=ZN594_HUMAN&from=694&to=717&var=K706Q	ENST00000399604		ENSG00000180626	29392		65	2.225		HGNC	p.K706Q		ZNF594		SNV							ENST00000575779	protein_coding	getma.org/?cm=var&var=hg19,17,5085436,T,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF127,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		K/Q		G	medium	2257/4862		getma.org/?cm=msa&ty=f&p=ZN594_HUMAN&rb=674&re=737&var=K706Q	deleterious(0)	I3L508_HUMAN			YES	ZNF594,missense_variant,p.Lys706Gln,ENST00000399604,;ZNF594,missense_variant,p.Lys706Gln,ENST00000575779,NM_032530.1;ZNF594,downstream_gene_variant,,ENST00000576772,;							MODERATE	2116/2424	K706Q	ZN594_HUMAN			Transcript		benign(0.006)	.	ENSP00000382513		CCDS42241.1			1	
DNAJC5B	0	LGGM	GRCh37	8	66963833	66963833	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060509	H060509N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	37	30	.	.	ENST00000276570.5:c.51A>C	p.Gly17=	p.G17=	ENST00000276570	NM_033105.4	17	ggA/ggC	0	1	1	UPI0000050F10	0		ENST00000276570		ENSG00000147570	24138		67			HGNC	p.G17G		DNAJC5B		SNV							ENST00000522619	protein_coding			Gene3D:1.10.287.110,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF162		G		C		338/1372				E5RGF4_HUMAN			YES	DNAJC5B,synonymous_variant,p.=,ENST00000276570,NM_033105.4;DNAJC5B,synonymous_variant,p.=,ENST00000522619,;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000519330,;DNAJC5B,intron_variant,,ENST00000524076,;							LOW	51/600		DNJ5B_HUMAN			Transcript			.	ENSP00000276570		CCDS6183.1			1	
CCR2	0	LGGM	GRCh37	3	46399375	46399375	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060509	H060509N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060509N.bam, H060509T.bam	Illumina HiSeq	105	58	.	.	ENST00000292301.4:c.357G>T	p.Leu119=	p.L119=	ENST00000292301	NM_001123041.2	119	ctG/ctT	0	1	1	UPI0000043585	0		ENST00000292301		ENSG00000121807	1603		163			HGNC	p.L119L		CCR2		SNV			1				ENST00000445132	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00657,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF73,PROSITE_profiles:PS50262		L		T		842/2671				L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN			YES	CCR2,synonymous_variant,p.=,ENST00000292301,NM_001123041.2;CCR2,synonymous_variant,p.=,ENST00000445132,NM_001123396.1;CCR2,synonymous_variant,p.=,ENST00000400888,;CCR2,synonymous_variant,p.=,ENST00000421659,;CCR2,intron_variant,,ENST00000465202,;							LOW	357/1125		CCR2_HUMAN			Transcript			.	ENSP00000292301		CCDS43078.1			1	
ELAVL2	0	LGGM	GRCh37	9	23762074	23762074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	15	2	.	.	ENST00000397312.2:c.159G>T	p.Glu53Asp	p.E53D	ENST00000397312	NM_004432.3	53	gaG/gaT	0	1		UPI000013C83F	0	getma.org/pdb.php?prot=ELAV2_HUMAN&from=41&to=111&var=E53D	ENST00000380117		ENSG00000107105	3313		17	0.09		HGNC	p.E53D		ELAVL2		SNV							ENST00000380110	protein_coding	getma.org/?cm=var&var=hg19,9,23762074,C,A&fts=all		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,Prints_domain:PR00961		E/D		A	neutral	703/2370		getma.org/?cm=msa&ty=f&p=ELAV2_HUMAN&rb=41&re=111&var=E53D	tolerated(0.51)	C9JB16_HUMAN,B1AM48_HUMAN				ELAVL2,missense_variant,p.Glu53Asp,ENST00000397312,NM_004432.3;ELAVL2,missense_variant,p.Glu53Asp,ENST00000544538,NM_001171195.1;ELAVL2,missense_variant,p.Glu53Asp,ENST00000223951,NM_001171197.1;ELAVL2,missense_variant,p.Glu82Asp,ENST00000380110,;ELAVL2,missense_variant,p.Glu53Asp,ENST00000380117,;ELAVL2,missense_variant,p.Glu53Asp,ENST00000440102,;ELAVL2,downstream_gene_variant,,ENST00000462649,;							MODERATE	159/1080	E53D	ELAV2_HUMAN			Transcript		benign(0.001)	.	ENSP00000369460		CCDS6515.1			1	
ABCC8	0	LGGM	GRCh37	11	17485018	17485018	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	6	2	.	.	ENST00000389817.3:c.546G>T	p.Leu182=	p.L182=	ENST00000389817		182	ctG/ctT	0	1	1	UPI0000DBEF32	0		ENST00000389817		ENSG00000006071	59		8			HGNC	p.L182L		ABCC8		SNV			1				ENST00000302539	protein_coding			hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L		A		615/4921							YES	ABCC8,synonymous_variant,p.=,ENST00000302539,NM_000352.3,NM_001287174.1;ABCC8,synonymous_variant,p.=,ENST00000389817,;ABCC8,synonymous_variant,p.=,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;							LOW	546/4746		ABCC8_HUMAN			Transcript			.	ENSP00000374467		CCDS31437.1			1	
RALY	0	LGGM	GRCh37	20	32661624	32661624	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	21	3	.	.	ENST00000246194.3:c.330-1G>A		p.X110_splice	ENST00000246194	NM_016732.2			0	1	1	UPI00000467E6	0		ENST00000246194		ENSG00000125970	15921		24			HGNC	-		RALY		SNV							ENST00000448364	protein_coding							A		-/1789				Q5QPM2_HUMAN,Q5QPM1_HUMAN,Q53GL6_HUMAN,B4DSJ1_HUMAN			YES	RALY,splice_acceptor_variant,,ENST00000246194,NM_016732.2;RALY,splice_acceptor_variant,,ENST00000448364,;RALY,splice_acceptor_variant,,ENST00000333552,;RALY,intron_variant,,ENST00000375114,NM_007367.3;RALY,intron_variant,,ENST00000442805,;RALY,downstream_gene_variant,,ENST00000413297,;RALY,splice_acceptor_variant,,ENST00000488227,;RALY,intron_variant,,ENST00000493399,;RALY,upstream_gene_variant,,ENST00000489384,;RALY,upstream_gene_variant,,ENST00000481580,;							HIGH	330/921		RALY_HUMAN			Transcript			.	ENSP00000246194		CCDS13230.1			1	
ZNF324	0	LGGM	GRCh37	19	58982720	58982720	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	26	3	.	.	ENST00000536459.2:c.861C>A	p.Cys287Ter	p.C287*	ENST00000536459		287	tgC/tgA	0	1		UPI000013C359	0	NA	ENST00000196482		ENSG00000083812	14096		29	0		HGNC	p.C287X		ZNF324		SNV							ENST00000536459	protein_coding	getma.org/?cm=var&var=hg19,19,58982720,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/*		A	NA	955/3000		NA		F5H1K2_HUMAN				ZNF324,stop_gained,p.Cys287Ter,ENST00000536459,;ZNF324,stop_gained,p.Cys287Ter,ENST00000196482,NM_014347.2;ZNF324,stop_gained,p.Cys64Ter,ENST00000535298,;ZNF324,stop_gained,p.Cys146Ter,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.2;ZNF446,upstream_gene_variant,,ENST00000600013,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000594468,;							HIGH	861/1662	C287*	Z324A_HUMAN			Transcript			.	ENSP00000196482		CCDS12981.1			1	
ADAM12	0	LGGM	GRCh37	10	127731616	127731616	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	5	3	.	.	ENST00000368679.4:c.2106G>C	p.Arg702=	p.R702=	ENST00000368679	NM_003474.4	702	cgG/cgC	0	1	1	UPI000036672C	0		ENST00000368679		ENSG00000148848	190		8			HGNC	p.R702R		ADAM12		SNV							ENST00000368679	protein_coding			hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905		R		G		2416/7938							YES	ADAM12,synonymous_variant,p.=,ENST00000368679,NM_003474.4;ADAM12,synonymous_variant,p.=,ENST00000368676,NM_021641.3;							LOW	2106/2730		ADA12_HUMAN			Transcript			.	ENSP00000357668		CCDS7653.1			1	
PCDH11X	0	LGGM	GRCh37	X	91133353	91133353	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	24	3	.	.	ENST00000373094.1:c.2114C>A	p.Thr705Asn	p.T705N	ENST00000373094	NM_032968.3	705	aCt/aAt	0	1	1	UPI0000070BD8	0	getma.org/pdb.php?prot=PC11X_HUMAN&from=682&to=773&var=T705N	ENST00000373094		ENSG00000102290	8656		27	1.97		HGNC	p.T705N		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91133353,C,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268		T/N		A	medium	2959/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=682&re=773&var=T705N	deleterious(0.02)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Thr705Asn,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Thr705Asn,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Thr705Asn,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Thr705Asn,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Thr705Asn,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Thr705Asn,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr705Asn,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Thr705Asn,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr705Asn,ENST00000298274,;							MODERATE	2114/4044	T705N	PC11X_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000362186		CCDS14461.1			1	
RASGEF1B	0	LGGM	GRCh37	4	82355829	82355829	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	6	3	.	.	ENST00000264400.2:c.1164T>C	p.Cys388=	p.C388=	ENST00000264400	NM_152545.1	388	tgT/tgC	0	1	1	UPI0000044685	0		ENST00000264400		ENSG00000138670	24881		9			HGNC	p.C388C		RASGEF1B		SNV							ENST00000264400	protein_coding			Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,Pfam_domain:PF00617,PROSITE_patterns:PS00720,hmmpanther:PTHR23113:SF197,hmmpanther:PTHR23113,PROSITE_profiles:PS50009		C		G		1316/2277				D6RE71_HUMAN,B4E121_HUMAN			YES	RASGEF1B,synonymous_variant,p.=,ENST00000509081,;RASGEF1B,synonymous_variant,p.=,ENST00000264400,NM_152545.1;RASGEF1B,synonymous_variant,p.=,ENST00000335927,;RASGEF1B,downstream_gene_variant,,ENST00000504863,;							LOW	1164/1422		RGF1B_HUMAN			Transcript			.	ENSP00000264400		CCDS34022.1			1	
TRIM67	0	LGGM	GRCh37	1	231344885	231344885	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	37	3	.	.	ENST00000366653.5:c.2012C>T	p.Ala671Val	p.A671V	ENST00000366653		671	gCc/gTc	0	1	1	UPI0000418F23	0	NA	ENST00000366653		ENSG00000119283	31859		40	2.6		HGNC	p.A671V		TRIM67		SNV							ENST00000366653	protein_coding	getma.org/?cm=var&var=hg19,1,231344885,C,T&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188		A/V		T	medium	2012/3936		getma.org/?cm=msa&ty=f&p=TRI67_HUMAN&rb=648&re=771&var=A671V	deleterious(0)				YES	TRIM67,missense_variant,p.Ala669Val,ENST00000444294,NM_001004342.3;TRIM67,missense_variant,p.Ala671Val,ENST00000366653,;TRIM67,missense_variant,p.Ala671Val,ENST00000366652,;TRIM67,missense_variant,p.Ala609Val,ENST00000449018,;							MODERATE	2012/2352	A671V	TRI67_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000355613		CCDS44333.1			1	
XYLT2	0	LGGM	GRCh37	17	48432928	48432928	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	26	3	.	.	ENST00000017003.2:c.1074C>T	p.Gly358=	p.G358=	ENST00000017003	NM_022167.2	358	ggC/ggT	0	1	1	UPI000013C536	0		ENST00000017003		ENSG00000015532	15517		29			HGNC	p.G358G		XYLT2		SNV							ENST00000017003	protein_coding			hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF79,Pfam_domain:PF02485		G		T		1123/3507							YES	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,;							LOW	1074/2598		XYLT2_HUMAN			Transcript			.	ENSP00000017003		CCDS11563.1			1	
BTAF1	0	LGGM	GRCh37	10	93784633	93784633	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	37	3	.	.	ENST00000265990.6:c.4984C>A	p.His1662Asn	p.H1662N	ENST00000265990	NM_003972.2	1662	Cat/Aat	0	1	1	UPI0000136782	0	getma.org/pdb.php?prot=BTAF1_HUMAN&from=1636&to=1790&var=H1662N	ENST00000265990		ENSG00000095564	17307		40	-0.425		HGNC	p.H1662N		BTAF1		SNV							ENST00000265990	protein_coding	getma.org/?cm=var&var=hg19,10,93784633,C,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799,PROSITE_profiles:PS51194		H/N		A	neutral	5292/7250		getma.org/?cm=msa&ty=f&p=BTAF1_HUMAN&rb=1636&re=1790&var=H1662N	tolerated(0.94)	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN			YES	BTAF1,missense_variant,p.His1662Asn,ENST00000265990,NM_003972.2;BTAF1,missense_variant,p.His490Asn,ENST00000544642,;							MODERATE	4984/5550	H1662N	BTAF1_HUMAN			Transcript		benign(0)	.	ENSP00000265990		CCDS7419.1			1	
PDXDC1	0	LGGM	GRCh37	16	15125732	15125732	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	5	3	.	.	ENST00000396410.4:c.1540G>T	p.Asp514Tyr	p.D514Y	ENST00000396410	NM_015027.2	514	Gac/Tac	0	1	1	UPI000004A864	0	NA	ENST00000396410		ENSG00000179889	28995		8	2.14		HGNC	p.D486Y		PDXDC1		SNV							ENST00000450288	protein_coding	getma.org/?cm=var&var=hg19,16,15125732,G,T&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73		D/Y		T	medium	1637/3884		getma.org/?cm=msa&ty=f&p=PDXD1_HUMAN&rb=316&re=515&var=D514Y	tolerated(0.72)	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN			YES	PDXDC1,missense_variant,p.Asp514Tyr,ENST00000396410,NM_015027.2,NM_001285447.1;PDXDC1,missense_variant,p.Asp487Tyr,ENST00000569715,NM_001285444.1;PDXDC1,missense_variant,p.Asp532Tyr,ENST00000563679,;PDXDC1,missense_variant,p.Asp499Tyr,ENST00000325823,;PDXDC1,missense_variant,p.Asp486Tyr,ENST00000450288,NM_001285445.1;PDXDC1,missense_variant,p.Asp423Tyr,ENST00000447912,NM_001285448.1;PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;PDXDC1,downstream_gene_variant,,ENST00000455313,NM_001285450.1;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000566633,;PDXDC1,intron_variant,,ENST00000562119,;PDXDC1,upstream_gene_variant,,ENST00000565986,;							MODERATE	1540/2367	D514Y	PDXD1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000379691		CCDS32393.1			1	
RNPS1	0	LGGM	GRCh37	16	2303920	2303920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	39	3	.	.	ENST00000454671.1:c.183C>A	p.Ser61Arg	p.S61R	ENST00000454671		61	agC/agA	0	1		UPI00000245F5	0		ENST00000301730		ENSG00000205937	10080		42			HGNC	p.S61R		RNPS1		SNV							ENST00000454671	protein_coding							A		1203/1276				H3BUL0_HUMAN,H3BUG0_HUMAN,H3BTY0_HUMAN,H3BTV0_HUMAN,H3BTR6_HUMAN,H3BTC0_HUMAN,H3BRK4_HUMAN,H3BPG5_HUMAN,H3BNI3_HUMAN,H3BMM9_HUMAN,D3DU92_HUMAN				RNPS1,missense_variant,p.Ser251Ile,ENST00000567147,;AC009065.1,missense_variant,p.Ser61Arg,ENST00000454671,;RNPS1,3_prime_UTR_variant,,ENST00000565678,NM_001286625.1;RNPS1,3_prime_UTR_variant,,ENST00000320225,NM_080594.2;RNPS1,3_prime_UTR_variant,,ENST00000397086,NM_006711.3;RNPS1,3_prime_UTR_variant,,ENST00000566458,NM_001286626.1;RNPS1,3_prime_UTR_variant,,ENST00000561718,;RNPS1,3_prime_UTR_variant,,ENST00000568631,;RNPS1,3_prime_UTR_variant,,ENST00000566397,;RNPS1,3_prime_UTR_variant,,ENST00000301730,;RNPS1,3_prime_UTR_variant,,ENST00000569598,;ECI1,upstream_gene_variant,,ENST00000301729,NM_001919.3;RNPS1,downstream_gene_variant,,ENST00000565870,;ECI1,upstream_gene_variant,,ENST00000570258,;RNPS1,downstream_gene_variant,,ENST00000561518,;ECI1,upstream_gene_variant,,ENST00000566379,;ECI1,upstream_gene_variant,,ENST00000562238,NM_001178029.1;RNPS1,non_coding_transcript_exon_variant,,ENST00000565243,;RNPS1,non_coding_transcript_exon_variant,,ENST00000562205,;RNPS1,downstream_gene_variant,,ENST00000564311,;ECI1,upstream_gene_variant,,ENST00000563029,;ECI1,upstream_gene_variant,,ENST00000561688,;							MODIFIER	-/918		RNPS1_HUMAN			Transcript			.	ENSP00000301730		CCDS10465.1			1	
FAM157A	0	LGGM	GRCh37	3	197894633	197894633	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	20	3	.	.	ENST00000437428.2:n.794G>A		*265*	ENST00000437428				0	1	1		0		ENST00000437428		ENSG00000236438	34079		23			HGNC	p.R325R	rs371269240	FAM157A	0.00275	SNV				0.000612			ENST00000431569	lincRNA							A		794/2168	0.00349						YES	FAM157A,non_coding_transcript_exon_variant,,ENST00000437428,;FAM157A,non_coding_transcript_exon_variant,,ENST00000431569,;	0.00163						MODIFIER				0.00759		Transcript			common_variant		0.00296		0.00467		1	
NLGN4X	0	LGGM	GRCh37	X	5821672	5821672	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	21	3	.	.	ENST00000381095.3:c.1047C>A	p.Ile349=	p.I349=	ENST00000381095	NM_181332.1	349	atC/atA	0	1		UPI0000072EC5	0		ENST00000275857		ENSG00000146938	14287		24			HGNC	p.I369I		NLGN4X		SNV			1				ENST00000381093	protein_coding			Low_complexity_(Seg):seg,Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559		I		T		1511/5454				B3KMT6_HUMAN				NLGN4X,synonymous_variant,p.=,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,synonymous_variant,p.=,ENST00000381093,;NLGN4X,synonymous_variant,p.=,ENST00000275857,NM_020742.2;NLGN4X,synonymous_variant,p.=,ENST00000381092,;NLGN4X,synonymous_variant,p.=,ENST00000538097,;NLGN4X,upstream_gene_variant,,ENST00000477079,;							LOW	1047/2451		NLGNX_HUMAN			Transcript			.	ENSP00000275857		CCDS14126.1			1	
CCDC142	0	LGGM	GRCh37	2	74709305	74709305	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	11	4	.	.	ENST00000290418.4:c.660G>C	p.Leu220Phe	p.L220F	ENST00000290418		220	ttG/ttC	0	1		UPI0000DA58E1	0	NA	ENST00000393965		ENSG00000135637	25889		15	1.175		HGNC	p.L220F		CCDC142		SNV							ENST00000290418	protein_coding	getma.org/?cm=var&var=hg19,2,74709305,C,G&fts=all		hmmpanther:PTHR21436:SF1,hmmpanther:PTHR21436		L/F		G	low	1057/3406		getma.org/?cm=msa&ty=f&p=CC142_HUMAN&rb=55&re=748&var=L220F	tolerated(0.33)					CCDC142,missense_variant,p.Leu220Phe,ENST00000393965,NM_032779.3;CCDC142,missense_variant,p.Leu220Phe,ENST00000290418,;TTC31,upstream_gene_variant,,ENST00000410003,;TTC31,upstream_gene_variant,,ENST00000233623,NM_022492.4;TTC31,upstream_gene_variant,,ENST00000442235,;CCDC142,non_coding_transcript_exon_variant,,ENST00000471713,;CCDC142,intron_variant,,ENST00000474681,;TTC31,upstream_gene_variant,,ENST00000463189,;CCDC142,missense_variant,p.Leu122Phe,ENST00000454193,;TTC31,upstream_gene_variant,,ENST00000489152,;TTC31,upstream_gene_variant,,ENST00000491252,;TTC31,upstream_gene_variant,,ENST00000424122,;TTC31,upstream_gene_variant,,ENST00000449459,;TTC31,upstream_gene_variant,,ENST00000464241,;TTC31,upstream_gene_variant,,ENST00000459957,;CCDC142,upstream_gene_variant,,ENST00000497232,;CCDC142,upstream_gene_variant,,ENST00000472962,;TTC31,upstream_gene_variant,,ENST00000463704,;							MODERATE	660/2253	L220F	CC142_HUMAN			Transcript		benign(0.311)	.	ENSP00000377537					1	
NACA	0	LGGM	GRCh37	12	57114941	57114941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	4	4	.	.	ENST00000550952.1:c.373C>A	p.Pro125Thr	p.P125T	ENST00000550952		125	Cca/Aca	0	1		UPI0000073EC7	0	NA	ENST00000356769		ENSG00000196531	7629		8	0		HGNC	p.P125T		NACA		SNV							ENST00000550952	protein_coding	getma.org/?cm=var&var=hg19,12,57114941,G,T&fts=all						T	neutral	-/2690		getma.org/?cm=msa&ty=f&p=E9PAV3_HUMAN&rb=1&re=669&var=P125T		F8W1N5_HUMAN,F8W0W4_HUMAN,F8VZJ2_HUMAN,F8VZ58_HUMAN,B2R4P8_HUMAN				NACA,missense_variant,p.Pro125Thr,ENST00000454682,NM_001113203.2;NACA,missense_variant,p.Pro125Thr,ENST00000550952,;NACA,intron_variant,,ENST00000356769,NM_001113202.1;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000546862,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551793,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551520,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000548084,;							MODIFIER	-/648	P125T	NACA_HUMAN			Transcript			.	ENSP00000349212		CCDS31837.1			1	
FBXW11	0	LGGM	GRCh37	5	171384671	171384671	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	95	4	.	.	ENST00000265094.5:c.77G>C	p.Cys26Ser	p.C26S	ENST00000265094	NM_012300.2	26	tGc/tCc	0	1	1	UPI000012ADB8	0	NA	ENST00000265094		ENSG00000072803	13607		99	0		HGNC	p.C26S		FBXW11		SNV							ENST00000265094	protein_coding	getma.org/?cm=var&var=hg19,5,171384671,C,G&fts=all				C/S		G	neutral	215/4342		getma.org/?cm=msa&ty=f&p=FBW1B_HUMAN&rb=16&re=53&var=C26S	tolerated_low_confidence(0.18)				YES	FBXW11,missense_variant,p.Cys26Ser,ENST00000265094,NM_012300.2;FBXW11,missense_variant,p.Cys26Ser,ENST00000517395,;FBXW11,intron_variant,,ENST00000296933,NM_033645.2,NM_033644.2;FBXW11,intron_variant,,ENST00000393802,;FBXW11,intron_variant,,ENST00000425623,;FBXW11,intron_variant,,ENST00000518752,;FBXW11,intron_variant,,ENST00000522507,;FBXW11,3_prime_UTR_variant,,ENST00000520376,;FBXW11,intron_variant,,ENST00000523843,;FBXW11,intron_variant,,ENST00000519693,;							MODERATE	77/1629	C26S	FBW1B_HUMAN			Transcript		benign(0.265)	.	ENSP00000265094		CCDS34289.1			1	
NKX6-2	0	LGGM	GRCh37	10	134598644	134598644	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	4	4	.	.	ENST00000368592.5:c.610C>T	p.Arg204Cys	p.R204C	ENST00000368592	NM_177400.2	204	Cgc/Tgc	0	1	1	UPI000013DB5A	0	getma.org/pdb.php?prot=NKX62_HUMAN&from=149&to=205&var=R204C	ENST00000368592		ENSG00000148826	19321		8	3.83		HGNC	p.R204C		NKX6-2		SNV							ENST00000368592	protein_coding	getma.org/?cm=var&var=hg19,10,134598644,G,A&fts=all		Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,hmmpanther:PTHR24340:SF21,hmmpanther:PTHR24340,PROSITE_profiles:PS50071		R/C		A	high	714/1061		getma.org/?cm=msa&ty=f&p=NKX62_HUMAN&rb=149&re=205&var=R204C	deleterious(0)				YES	NKX6-2,missense_variant,p.Arg204Cys,ENST00000368592,NM_177400.2;INPP5A,downstream_gene_variant,,ENST00000368594,NM_005539.3;INPP5A,downstream_gene_variant,,ENST00000445580,;RP11-288G11.3,upstream_gene_variant,,ENST00000441365,;							MODERATE	610/834	R204C	NKX62_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357581		CCDS7670.1			1	
ZNF705A	0	LGGM	GRCh37	12	8330117	8330117	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	63	4	.	.	ENST00000359286.4:c.841G>A	p.Glu281Lys	p.E281K	ENST00000359286	NM_001004328.2	281	Gag/Aag	0	1	1	UPI000035E780	0	getma.org/pdb.php?prot=Z705A_HUMAN&from=274&to=294&var=E281K	ENST00000359286		ENSG00000196946	32281		67	1.455		HGNC	p.E281K		ZNF705A		SNV							ENST00000359286	protein_coding	getma.org/?cm=var&var=hg19,12,8330117,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF18,Superfamily_domains:SSF57667		E/K		A	low	930/3455		getma.org/?cm=msa&ty=f&p=Z705A_HUMAN&rb=254&re=300&var=E281K	deleterious(0)	J3KPU9_HUMAN,B5MCH6_HUMAN			YES	ZNF705A,missense_variant,p.Glu281Lys,ENST00000359286,NM_001004328.2,NM_001278713.1;ZNF705A,intron_variant,,ENST00000398526,;ZNF705A,downstream_gene_variant,,ENST00000396570,;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,;							MODERATE	841/903	E281K	Z705A_HUMAN			Transcript		possibly_damaging(0.605)	.	ENSP00000352233		CCDS31737.1			1	
ASAP1	0	LGGM	GRCh37	8	131140337	131140337	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	11	5	.	.	ENST00000357668.1:c.1218-1G>A		p.X406_splice	ENST00000357668				0	1		UPI0000351D6E	0		ENST00000518721		ENSG00000153317	2720		16			HGNC	-	COSM3317262	ASAP1		SNV						1	ENST00000357668	protein_coding							T		-/5507				E5RFD9_HUMAN				ASAP1,splice_acceptor_variant,,ENST00000357668,;ASAP1,splice_acceptor_variant,,ENST00000518721,NM_001247996.1,NM_018482.3;ASAP1,splice_acceptor_variant,,ENST00000524124,;ASAP1,splice_acceptor_variant,,ENST00000521075,;					1		HIGH	1218/3390		ASAP1_HUMAN			Transcript			.	ENSP00000429900		CCDS6362.1			1	
TPO	0	LGGM	GRCh37	2	1459864	1459864	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	11	5	.	.	ENST00000345913.4:c.629G>A	p.Arg210Lys	p.R210K	ENST00000345913	NM_000547.5	210	aGa/aAa	0	1		UPI000013D480	0	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=R210K	ENST00000329066		ENSG00000115705	12015		16	2.42		HGNC	p.R210K		TPO		SNV			1				ENST00000345913	protein_coding	getma.org/?cm=var&var=hg19,2,1459864,G,A&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		R/K		A	medium	712/3138		getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=R210K	tolerated(0.11)	Q53QT2_HUMAN,C9J511_HUMAN				TPO,missense_variant,p.Arg139Lys,ENST00000422464,;TPO,missense_variant,p.Arg210Lys,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Arg210Lys,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Arg210Lys,ENST00000337415,;TPO,missense_variant,p.Arg210Lys,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Arg210Lys,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Arg210Lys,ENST00000349624,;TPO,missense_variant,p.Arg210Lys,ENST00000382198,NM_175722.3;TPO,downstream_gene_variant,,ENST00000423320,;TPO,intron_variant,,ENST00000497517,;							MODERATE	629/2802	R210K	PERT_HUMAN			Transcript		benign(0.19)	.	ENSP00000329869		CCDS1643.1			1	
PPP1R26	0	LGGM	GRCh37	9	138378656	138378656	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	2	5	.	.	ENST00000356818.2:c.2300A>G	p.Lys767Arg	p.K767R	ENST00000356818	NM_014811.3	767	aAg/aGg	0	1	1	UPI000013DB17	0	NA	ENST00000356818		ENSG00000196422	29089		7	-0.865		HGNC	p.K767R		PPP1R26		SNV							ENST00000356818	protein_coding	getma.org/?cm=var&var=hg19,9,138378656,A,G&fts=all		hmmpanther:PTHR15724		K/R		G	neutral	2849/4932		getma.org/?cm=msa&ty=f&p=PPR26_HUMAN&rb=601&re=800&var=K767R	tolerated(1)	Q5T8A6_HUMAN			YES	PPP1R26,missense_variant,p.Lys767Arg,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Lys767Arg,ENST00000401470,;PPP1R26,missense_variant,p.Lys767Arg,ENST00000605286,;PPP1R26,missense_variant,p.Lys767Arg,ENST00000604351,;PPP1R26,missense_variant,p.Lys767Arg,ENST00000605660,;PPP1R26,intron_variant,,ENST00000602993,;							MODERATE	2300/3630	K767R	PPR26_HUMAN			Transcript		benign(0.002)	.	ENSP00000349274		CCDS6988.1			1	
ZNF638	0	LGGM	GRCh37	2	71650921	71650921	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	22	5	.	.	ENST00000409544.1:c.4277T>C	p.Ile1426Thr	p.I1426T	ENST00000409544	NM_001252612.1	1426	aTa/aCa	0	1		UPI000013D51B	0	NA	ENST00000264447		ENSG00000075292	17894		27	0.895		HGNC	p.I1426T		ZNF638		SNV							ENST00000264447	protein_coding	getma.org/?cm=var&var=hg19,2,71650921,T,C&fts=all		hmmpanther:PTHR15592,hmmpanther:PTHR15592:SF1		I/T		C	low	4591/6505		getma.org/?cm=msa&ty=f&p=ZN638_HUMAN&rb=1091&re=1529&var=I1426T	tolerated(0.35)	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN				ZNF638,missense_variant,p.Ile1426Thr,ENST00000409544,NM_001252612.1;ZNF638,missense_variant,p.Ile1426Thr,ENST00000264447,NM_001014972.2,NM_014497.4,NM_001252613.1;ZNF638,missense_variant,p.Ile366Thr,ENST00000409407,;ZNF638,intron_variant,,ENST00000355812,;ZNF638,intron_variant,,ENST00000483421,;ZNF638,upstream_gene_variant,,ENST00000493576,;ZNF638,upstream_gene_variant,,ENST00000461991,;ZNF638,upstream_gene_variant,,ENST00000492262,;ZNF638,upstream_gene_variant,,ENST00000472758,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,intron_variant,,ENST00000494241,;							MODERATE	4277/5937	I1426T	ZN638_HUMAN			Transcript		benign(0.146)	.	ENSP00000264447		CCDS1917.1			1	
FAM111B	0	LGGM	GRCh37	11	58891920	58891920	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	21	5	.	.	ENST00000343597.3:c.350T>G	p.Phe117Cys	p.F117C	ENST00000343597	NM_198947.3	117	tTc/tGc	0	1	1	UPI00001D77B8	0	NA	ENST00000343597		ENSG00000189057	24200		26	1.79		HGNC	p.F117C		FAM111B		SNV			1				ENST00000343597	protein_coding	getma.org/?cm=var&var=hg19,11,58891920,T,G&fts=all		hmmpanther:PTHR14389:SF4,hmmpanther:PTHR14389		F/C		G	low	541/3488		getma.org/?cm=msa&ty=f&p=F111B_HUMAN&rb=1&re=269&var=F117C	deleterious(0)	E9PS27_HUMAN			YES	FAM111B,missense_variant,p.Phe117Cys,ENST00000343597,NM_198947.3;FAM111B,missense_variant,p.Phe87Cys,ENST00000411426,NM_001142704.1,NM_001142703.1;FAM111B,missense_variant,p.Phe87Cys,ENST00000529618,;FAM111B,missense_variant,p.Phe87Cys,ENST00000534403,;							MODERATE	350/2205	F117C	F111B_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000341565		CCDS7972.1			1	
VPS13D	0	LGGM	GRCh37	1	12389974	12389974	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	20	5	.	.	ENST00000358136.3:c.8286A>C	p.Ser2762=	p.S2762=	ENST00000358136	NM_015378.2	2762	tcA/tcC	0	1	1	UPI0000451CA9	0		ENST00000358136		ENSG00000048707	23595		25			HGNC	p.S2762S		VPS13D		SNV							ENST00000356315	protein_coding			hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166		S		C		8416/16318				M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,splice_region_variant,p.=,ENST00000358136,NM_015378.2;VPS13D,splice_region_variant,p.=,ENST00000356315,NM_018156.2;VPS13D,splice_region_variant,p.=,ENST00000011700,;VPS13D,splice_region_variant,,ENST00000460333,;VPS13D,splice_region_variant,,ENST00000487188,;							LOW	8286/13167					Transcript			.	ENSP00000350854		CCDS30588.1			1	
NPAP1	0	LGGM	GRCh37	15	24921079	24921079	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	8	6	.	.	ENST00000329468.2:c.65G>A	p.Arg22His	p.R22H	ENST00000329468	NM_018958.2	22	cGt/cAt	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		14	0.895		HGNC	p.R22H	rs773600317,COSM2082420	NPAP1		SNV						0,1	ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24921079,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		R/H		A	low	539/8053	4.86E-05	getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=R22H	tolerated_low_confidence(0.08)				YES	NPAP1,missense_variant,p.Arg22His,ENST00000329468,NM_018958.2;					0,1		MODERATE	65/3471	R22H	NPAP1_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000333735	1.72E-05	CCDS10015.1			1	
RAPH1	0	LGGM	GRCh37	2	204304197	204304197	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	13	6	.	.	ENST00000319170.5:c.3716A>C	p.Lys1239Thr	p.K1239T	ENST00000319170	NM_213589.1	1239	aAa/aCa	0	1	1	UPI000020940F	0	NA	ENST00000319170		ENSG00000173166	14436		19	0.805		HGNC	p.K1239T		RAPH1		SNV							ENST00000319170	protein_coding	getma.org/?cm=var&var=hg19,2,204304197,T,G&fts=all		hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15		K/T		G	low	4016/9808		getma.org/?cm=msa&ty=f&p=RAPH1_HUMAN&rb=1106&re=1250&var=K1239T		C9JLG4_HUMAN			YES	RAPH1,missense_variant,p.Lys1239Thr,ENST00000319170,NM_213589.1;RAPH1,missense_variant,p.Lys1291Thr,ENST00000374493,;ABI2,3_prime_UTR_variant,,ENST00000295851,NM_001282925.1;RAPH1,intron_variant,,ENST00000457812,;RAPH1,downstream_gene_variant,,ENST00000308091,NM_203365.2;RAPH1,downstream_gene_variant,,ENST00000374489,;RAPH1,downstream_gene_variant,,ENST00000374488,;RAPH1,downstream_gene_variant,,ENST00000423104,;RAPH1,downstream_gene_variant,,ENST00000439222,;RAPH1,downstream_gene_variant,,ENST00000419464,;ABI2,downstream_gene_variant,,ENST00000464761,;							MODERATE	3716/3753	K1239T	RAPH1_HUMAN			Transcript		unknown(0)	.	ENSP00000316543		CCDS2359.1			1	
KNG1	0	LGGM	GRCh37	3	186459511	186459511	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	37	6	.	.	ENST00000265023.4:c.1326C>A	p.Gly442=	p.G442=	ENST00000265023	NM_001102416.2	442	ggC/ggA	0	1	1	UPI000013D5AC	0		ENST00000265023		ENSG00000113889	6383		43			HGNC	p.G442G		KNG1		SNV			1				ENST00000265023	protein_coding			Prints_domain:PR00334,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9		G		A		1538/3435							YES	KNG1,synonymous_variant,p.=,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,;							LOW	1326/1935		KNG1_HUMAN			Transcript			.	ENSP00000265023		CCDS43183.1			1	
FGF18	0	LGGM	GRCh37	5	170863229	170863229	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	1	7	.	.	ENST00000274625.5:c.202G>T	p.Val68Phe	p.V68F	ENST00000274625	NM_003862.2	68	Gtc/Ttc	0	1	1	UPI000003C116	0	getma.org/pdb.php?prot=FGF18_HUMAN&from=53&to=175&var=V68F	ENST00000274625		ENSG00000156427	3674		8	2.685		HGNC	p.V68F		FGF18		SNV							ENST00000274625	protein_coding	getma.org/?cm=var&var=hg19,5,170863229,G,T&fts=all		hmmpanther:PTHR11486:SF4,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353		V/F		T	medium	746/1986		getma.org/?cm=msa&ty=f&p=FGF18_HUMAN&rb=53&re=175&var=V68F	deleterious(0)				YES	FGF18,missense_variant,p.Val68Phe,ENST00000274625,NM_003862.2;							MODERATE	202/624	V68F	FGF18_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000274625		CCDS4378.1			1	
SPHKAP	0	LGGM	GRCh37	2	228884117	228884117	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	17	7	.	.	ENST00000392056.3:c.1453G>A	p.Gly485Arg	p.G485R	ENST00000392056	NM_001142644.1	485	Gga/Aga	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		24	1.6		HGNC	p.G485R	rs763615196,COSM318066,COSM318067	SPHKAP		SNV						0,1,1	ENST00000344657	protein_coding	getma.org/?cm=var&var=hg19,2,228884117,C,T&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		G/R		T	low	1500/6917	1.50E-05	getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=401&re=600&var=G485R	tolerated(0.22)				YES	SPHKAP,missense_variant,p.Gly485Arg,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Gly485Arg,ENST00000344657,NM_030623.3;					0,1,1		MODERATE	1453/5103	G485R	SPKAP_HUMAN			Transcript		benign(0.03)	.	ENSP00000375909	8.24E-06	CCDS46537.1			1	
SIX3	0	LGGM	GRCh37	2	45169889	45169889	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	17	8	.	.	ENST00000260653.3:c.646C>G	p.Arg216Gly	p.R216G	ENST00000260653	NM_005413.3	216	Cgg/Ggg	0	1	1	UPI00001359C4	0	getma.org/pdb.php?prot=SIX3_HUMAN&from=207&to=263&var=R216G	ENST00000260653		ENSG00000138083	10889		25	0.925		HGNC	p.R216G		SIX3		SNV			1				ENST00000260653	protein_coding	getma.org/?cm=var&var=hg19,2,45169889,C,G&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689		R/G		G	low	988/2658		getma.org/?cm=msa&ty=f&p=SIX3_HUMAN&rb=207&re=263&var=R216G	deleterious(0.02)	Q9NSJ2_HUMAN,A0PJI2_HUMAN			YES	SIX3,missense_variant,p.Arg216Gly,ENST00000260653,NM_005413.3;RP11-89K21.1,upstream_gene_variant,,ENST00000437916,;RP11-89K21.1,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;							MODERATE	646/999	R216G	SIX3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000260653		CCDS1821.1			1	
TP53	0	LGGM	GRCh37	17	7577082	7577082	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	8	8	.	.	ENST00000269305.4:c.856G>A	p.Glu286Lys	p.E286K	ENST00000269305	NM_001126112.2	286	Gaa/Aaa	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=E286K	ENST00000269305		ENSG00000141510	11998		16	3.27		HGNC	p.E286K	TP53_g.13836G>A,COSM10726,COSM99924,COSM3522693,COSM1645467	TP53		SNV			1			0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577082,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		E/K		T	medium	1046/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=E286K	deleterious(0)	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			YES	TP53,missense_variant,p.Glu286Lys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Glu286Lys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Glu286Lys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Glu286Lys,ENST00000445888,;TP53,missense_variant,p.Glu286Lys,ENST00000359597,;TP53,missense_variant,p.Glu154Lys,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,;					0,1,1,1,1		MODERATE	856/1182	E286K	P53_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000269305		CCDS11118.1			1	
VCPIP1	0	LGGM	GRCh37	8	67576497	67576497	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	15	8	.	.	ENST00000310421.4:c.2697A>G	p.Leu899=	p.L899=	ENST00000310421	NM_025054.4	899	ttA/ttG	0	1	1	UPI00001D3EF3	0		ENST00000310421		ENSG00000175073	30897		23			HGNC	p.L899L		VCPIP1		SNV							ENST00000310421	protein_coding			hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF1		L		C		2956/9942							YES	VCPIP1,synonymous_variant,p.=,ENST00000310421,NM_025054.4;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.1;C8orf44,upstream_gene_variant,,ENST00000519561,NM_019607.2;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;							LOW	2697/3669		VCIP1_HUMAN			Transcript			.	ENSP00000309031		CCDS6192.1			1	
ZC3HC1	0	LGGM	GRCh37	7	129664228	129664228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	26	8	.	.	ENST00000358303.4:c.895G>T	p.Gly299Cys	p.G299C	ENST00000358303	NM_016478.3	299	Ggc/Tgc	0	1	1	UPI000000D807	0	NA	ENST00000358303		ENSG00000091732	29913		34	1.95		HGNC	p.G299C		ZC3HC1		SNV							ENST00000360708	protein_coding	getma.org/?cm=var&var=hg19,7,129664228,C,A&fts=all		Pfam_domain:PF08600,hmmpanther:PTHR15835		G/C		A	medium	980/1972		getma.org/?cm=msa&ty=f&p=NIPA_HUMAN&rb=248&re=344&var=G299C	deleterious(0.03)	F8WBD7_HUMAN			YES	ZC3HC1,missense_variant,p.Gly299Cys,ENST00000358303,NM_016478.3;ZC3HC1,missense_variant,p.Gly278Cys,ENST00000311873,NM_001282190.1;ZC3HC1,missense_variant,p.Gly299Cys,ENST00000360708,NM_001282191.1;ZC3HC1,intron_variant,,ENST00000481503,;RNA5SP245,upstream_gene_variant,,ENST00000364239,;RP11-306G20.1,intron_variant,,ENST00000587038,;RP11-306G20.1,intron_variant,,ENST00000480018,;ZC3HC1,3_prime_UTR_variant,,ENST00000467642,;ZC3HC1,non_coding_transcript_exon_variant,,ENST00000471022,;ZC3HC1,non_coding_transcript_exon_variant,,ENST00000477578,;ZC3HC1,downstream_gene_variant,,ENST00000483827,;							MODERATE	895/1509	G299C	NIPA_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000351052		CCDS34753.1			1	
GUCA1B	0	LGGM	GRCh37	6	42162429	42162429	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	9	8	.	.	ENST00000230361.3:c.130C>T	p.Arg44Cys	p.R44C	ENST00000230361	NM_002098.5	44	Cgc/Tgc	0	1	1	UPI000013C92C	0	getma.org/pdb.php?prot=GUC1B_HUMAN&from=33&to=82&var=R44C	ENST00000230361		ENSG00000112599	4679		17	2.805		HGNC	p.R44C	rs767394548,COSM3874061	GUCA1B		SNV			1			0,1	ENST00000230361	protein_coding	getma.org/?cm=var&var=hg19,6,42162429,G,A&fts=all		hmmpanther:PTHR23055:SF11,hmmpanther:PTHR23055,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		R/C		A	medium	226/1113	1.50E-05	getma.org/?cm=msa&ty=f&p=GUC1B_HUMAN&rb=33&re=82&var=R44C	deleterious(0)				YES	GUCA1B,missense_variant,p.Arg44Cys,ENST00000230361,NM_002098.5;	0.00128				0,1		MODERATE	130/603	R44C	GUC1B_HUMAN			Transcript		benign(0.06)	common_variant	ENSP00000230361	9.88E-05	CCDS4865.1			1	
SIX3	0	LGGM	GRCh37	2	45169890	45169890	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	17	8	.	.	ENST00000260653.3:c.647G>T	p.Arg216Leu	p.R216L	ENST00000260653	NM_005413.3	216	cGg/cTg	0	1	1	UPI00001359C4	0	getma.org/pdb.php?prot=SIX3_HUMAN&from=207&to=263&var=R216L	ENST00000260653		ENSG00000138083	10889		25	0.6		HGNC	p.R216L		SIX3		SNV			1				ENST00000260653	protein_coding	getma.org/?cm=var&var=hg19,2,45169890,G,T&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689		R/L		T	neutral	989/2658		getma.org/?cm=msa&ty=f&p=SIX3_HUMAN&rb=207&re=263&var=R216L	deleterious(0)	Q9NSJ2_HUMAN,A0PJI2_HUMAN			YES	SIX3,missense_variant,p.Arg216Leu,ENST00000260653,NM_005413.3;RP11-89K21.1,upstream_gene_variant,,ENST00000437916,;RP11-89K21.1,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;							MODERATE	647/999	R216L	SIX3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000260653		CCDS1821.1			1	
LRP1	0	LGGM	GRCh37	12	57593769	57593769	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	9	8	.	.	ENST00000243077.3:c.9975C>T	p.Ser3325=	p.S3325=	ENST00000243077	NM_002332.2	3325	agC/agT	0	1	1	UPI00001B044F	0		ENST00000243077		ENSG00000123384	6692		17			HGNC	p.S3325S	rs762828026	LRP1		SNV							ENST00000243077	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF14670,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00181,Superfamily_domains:SSF57184		S		T		10441/14897				Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000555124,;LRP1,upstream_gene_variant,,ENST00000556356,;LRP1,upstream_gene_variant,,ENST00000451724,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000555941,;	0.000116						LOW	9975/13635		LRP1_HUMAN			Transcript			.	ENSP00000243077	8.24E-06	CCDS8932.1			1	
CD93	0	LGGM	GRCh37	20	23065275	23065275	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	10	8	.	.	ENST00000246006.4:c.1555C>G	p.Pro519Ala	p.P519A	ENST00000246006	NM_012072.3	519	Cct/Gct	0	1	1	UPI00001273BC	0	NA	ENST00000246006		ENSG00000125810	15855		18	1.61		HGNC	p.P519A		CD93		SNV							ENST00000246006	protein_coding	getma.org/?cm=var&var=hg19,20,23065275,G,C&fts=all		hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PIRSF_domain:PIRSF001775		P/A		C	low	1703/6708		getma.org/?cm=msa&ty=f&p=C1QR1_HUMAN&rb=492&re=590&var=P519A	tolerated(0.26)				YES	CD93,missense_variant,p.Pro519Ala,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;							MODERATE	1555/1959	P519A	C1QR1_HUMAN			Transcript		benign(0.009)	.	ENSP00000246006		CCDS13149.1			1	
ATL3	0	LGGM	GRCh37	11	63398535	63398535	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	22	9	.	.	ENST00000398868.3:c.1516G>A	p.Gly506Ser	p.G506S	ENST00000398868	NM_015459.3	506	Ggt/Agt	0	1	1	UPI0000071A21	0	NA	ENST00000398868		ENSG00000184743	24526		31	-1.01		HGNC	p.G488S		ATL3		SNV			1				ENST00000538786	protein_coding	getma.org/?cm=var&var=hg19,11,63398535,C,T&fts=all		hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32		G/S		T	neutral	1793/7135		getma.org/?cm=msa&ty=f&p=ATLA3_HUMAN&rb=439&re=541&var=G506S	tolerated(0.13)	F5H6I7_HUMAN			YES	ATL3,missense_variant,p.Gly506Ser,ENST00000398868,NM_015459.3;ATL3,missense_variant,p.Gly533Ser,ENST00000332645,;ATL3,missense_variant,p.Gly488Ser,ENST00000538786,;RP11-697H9.4,upstream_gene_variant,,ENST00000605170,;							MODERATE	1516/1626	G506S	ATLA3_HUMAN			Transcript		benign(0.007)	.	ENSP00000381844		CCDS41663.1			1	
OR5H15	0	LGGM	GRCh37	3	97888050	97888050	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	41	10	.	.	ENST00000356526.2:c.507T>C	p.Cys169=	p.C169=	ENST00000356526	NM_001005515.1	169	tgT/tgC	0	1	1	UPI00001606CE	0		ENST00000356526		ENSG00000233412	31287		51			HGNC	p.C169C		OR5H15		SNV							ENST00000356526	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321		C		C		507/942							YES	OR5H15,synonymous_variant,p.=,ENST00000356526,NM_001005515.1;							LOW	507/942		O5H15_HUMAN			Transcript			.	ENSP00000373195		CCDS33799.1			1	
RYK	0	LGGM	GRCh37	3	133894512	133894512	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	204	10	.	.	ENST00000296084.4:c.1519G>A	p.Val507Ile	p.V507I	ENST00000296084	NM_001005861.2	507	Gtt/Att	0	1	1	UPI00015E08D8	0	getma.org/pdb.php?prot=RYK_HUMAN&from=327&to=593&var=V503I	ENST00000296084		ENSG00000163785	10481		214	-0.23		HGNC	p.V317I		RYK		SNV							ENST00000427044	protein_coding	getma.org/?cm=var&var=hg19,3,133894512,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF256,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112,Prints_domain:PR00109		V/I		T	neutral	1519/2846		getma.org/?cm=msa&ty=f&p=RYK_HUMAN&rb=327&re=593&var=V503I	tolerated(0.71)	Q8WTZ8_HUMAN,F5H8L5_HUMAN			YES	RYK,missense_variant,p.Val317Ile,ENST00000427044,;RYK,missense_variant,p.Val507Ile,ENST00000296084,NM_001005861.2,NM_002958.3;RYK,missense_variant,p.Val486Ile,ENST00000460933,;RYK,missense_variant,p.Val126Ile,ENST00000472234,;RYK,3_prime_UTR_variant,,ENST00000486725,;RYK,non_coding_transcript_exon_variant,,ENST00000473208,;RYK,downstream_gene_variant,,ENST00000481382,;HMGB3P14,downstream_gene_variant,,ENST00000494195,;							MODERATE	1519/1827	V503I	RYK_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000296084					1	
TRIM65	0	LGGM	GRCh37	17	73887266	73887266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	7	11	.	.	ENST00000269383.3:c.1148A>T	p.His383Leu	p.H383L	ENST00000269383	NM_173547.3	383	cAc/cTc	0	1	1	UPI000015FC8E	0	getma.org/pdb.php?prot=TRI65_HUMAN&from=381&to=503&var=H383L	ENST00000269383		ENSG00000141569	27316		18	0.455		HGNC	p.H383L		TRIM65		SNV							ENST00000269383	protein_coding	getma.org/?cm=var&var=hg19,17,73887266,T,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF321,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407		H/L		A	neutral	1214/3439		getma.org/?cm=msa&ty=f&p=TRI65_HUMAN&rb=381&re=503&var=H383L	deleterious(0.02)				YES	TRIM65,missense_variant,p.His383Leu,ENST00000269383,NM_173547.3,NM_001256124.1;TRIM65,missense_variant,p.His235Leu,ENST00000543309,;TRIM65,3_prime_UTR_variant,,ENST00000540128,;TRIM65,intron_variant,,ENST00000591668,;TRIM65,intron_variant,,ENST00000592642,;TRIM65,downstream_gene_variant,,ENST00000540812,;							MODERATE	1148/1554	H383L	TRI65_HUMAN			Transcript		benign(0.124)	.	ENSP00000269383		CCDS11732.1			1	
FOXL2	0	LGGM	GRCh37	3	138665204	138665204	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	9	11	.	.	ENST00000330315.3:c.361G>A	p.Gly121Ser	p.G121S	ENST00000330315	NM_023067.3	121	Ggc/Agc	0	1	1	UPI0000050DB3	0	getma.org/pdb.php?prot=FOXL2_HUMAN&from=54&to=149&var=G121S	ENST00000330315		ENSG00000183770	1092		20	1.16		HGNC	p.G121S		FOXL2		SNV			1				ENST00000330315	protein_coding	getma.org/?cm=var&var=hg19,3,138665204,C,T&fts=all		PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF105,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785		G/S		T	low	779/2917		getma.org/?cm=msa&ty=f&p=FOXL2_HUMAN&rb=54&re=149&var=G121S	deleterious(0.02)	Q53ZD3_HUMAN,Q4JHB7_HUMAN,Q4JHB5_HUMAN			YES	FOXL2,missense_variant,p.Gly121Ser,ENST00000330315,NM_023067.3;C3orf72,upstream_gene_variant,,ENST00000383165,NM_001040061.2;RP11-548O1.3,upstream_gene_variant,,ENST00000495287,;RP11-548O1.3,upstream_gene_variant,,ENST00000483650,;RP11-548O1.3,upstream_gene_variant,,ENST00000477059,;C3orf72,upstream_gene_variant,,ENST00000498709,;C3orf72,upstream_gene_variant,,ENST00000470680,;							MODERATE	361/1131	G121S	FOXL2_HUMAN			Transcript		possibly_damaging(0.685)	.	ENSP00000333188		CCDS3105.1			1	
BTBD19	0	LGGM	GRCh37	1	45278685	45278685	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	16	11	.	.	ENST00000450269.1:c.432C>T	p.Gly144=	p.G144=	ENST00000450269	NM_001136537.1	144	ggC/ggT	0	1	1	UPI00001619D4	0		ENST00000450269		ENSG00000222009	27145		27			HGNC	p.G106G		BTBD19		SNV							ENST00000409335	protein_coding			SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR26379:SF54,hmmpanther:PTHR26379		G		T		771/1572							YES	BTBD19,synonymous_variant,p.=,ENST00000450269,NM_001136537.1;BTBD19,synonymous_variant,p.=,ENST00000409335,;BTBD19,3_prime_UTR_variant,,ENST00000453418,;BTBD19,upstream_gene_variant,,ENST00000464114,;BTBD19,3_prime_UTR_variant,,ENST00000439563,;BTBD19,non_coding_transcript_exon_variant,,ENST00000485668,;BTBD19,non_coding_transcript_exon_variant,,ENST00000495433,;BTBD19,non_coding_transcript_exon_variant,,ENST00000482715,;BTBD19,non_coding_transcript_exon_variant,,ENST00000475105,;BTBD19,upstream_gene_variant,,ENST00000489976,;							LOW	432/876		BTBDJ_HUMAN			Transcript			.	ENSP00000395461					1	
ABCA13	0	LGGM	GRCh37	7	48411771	48411771	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	26	11	.	.	ENST00000435803.1:c.10810C>T	p.Arg3604Trp	p.R3604W	ENST00000435803	NM_152701.3	3604	Cgg/Tgg	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		37	2.725		HGNC	p.R3604W	rs781289638	ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48411771,C,T&fts=all		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		R/W		T	medium	10834/17184	1.55E-05	getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3303&re=3772&var=R3604W					YES	ABCA13,missense_variant,p.Arg3604Trp,ENST00000435803,NM_152701.3;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;							MODERATE	10810/15177	R3604W	ABCAD_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000411096	8.27E-06	CCDS47584.1			1	
RAB5A	0	LGGM	GRCh37	3	20017538	20017538	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	22	12	.	.	ENST00000273047.4:c.316-1G>A		p.X106_splice	ENST00000273047	NM_004162.4			0	1	1	UPI0000001055	0		ENST00000273047		ENSG00000144566	9783		34			HGNC	-		RAB5A		SNV							ENST00000273047	protein_coding							A		-/2536							YES	RAB5A,splice_acceptor_variant,,ENST00000273047,NM_004162.4;RAB5A,splice_acceptor_variant,,ENST00000422242,;RAB5A,splice_acceptor_variant,,ENST00000446547,;RAB5A,splice_acceptor_variant,,ENST00000469122,;RAB5A,splice_acceptor_variant,,ENST00000473608,;RAB5A,splice_acceptor_variant,,ENST00000412966,;PP2D1,downstream_gene_variant,,ENST00000333083,;							HIGH	316/648		RAB5A_HUMAN			Transcript			.	ENSP00000273047		CCDS2633.1			1	
TTN	0	LGGM	GRCh37	2	179593290	179593290	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	48	12	.	.	ENST00000589042.1:c.19363T>C	p.Tyr6455His	p.Y6455H	ENST00000589042	NM_001267550.1	6455	Tac/Cac	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=6068&to=6157&var=Y6138H	ENST00000591111		ENSG00000155657	12403		60	4.62		HGNC	p.Y6455H		TTN		SNV			1				ENST00000589042	protein_coding	getma.org/?cm=var&var=hg19,2,179593290,A,G&fts=all		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		Y/H		G	high	18637/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=6068&re=6157&var=Y6138H		C9JQJ2_HUMAN				TTN,missense_variant,p.Tyr6455His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Tyr6138His,ENST00000591111,;TTN,missense_variant,p.Tyr5211His,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,downstream_gene_variant,,ENST00000590024,;TTN-AS1,upstream_gene_variant,,ENST00000582847,;							MODERATE	18412/103053	Y6138H	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
KIAA1211	0	LGGM	GRCh37	4	57182446	57182446	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	6	12	.	.	ENST00000504228.1:c.2778C>A	p.Ser926Arg	p.S926R	ENST00000504228		926	agC/agA	0	1		UPI0000237309	0	NA	ENST00000264229		ENSG00000109265	29219		18	1.32		HGNC	p.S926R		KIAA1211		SNV							ENST00000264229	protein_coding	getma.org/?cm=var&var=hg19,4,57182446,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		S/R		A	low	3169/4109		getma.org/?cm=msa&ty=f&p=K1211_HUMAN&rb=493&re=1231&var=S926R	tolerated(0.3)					KIAA1211,missense_variant,p.Ser926Arg,ENST00000504228,;KIAA1211,missense_variant,p.Ser919Arg,ENST00000541073,;KIAA1211,missense_variant,p.Ser926Arg,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;							MODERATE	2778/3702	S926R	K1211_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000264229		CCDS43230.1			1	
LRRK1	0	LGGM	GRCh37	15	101606380	101606380	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	37	12	.	.	ENST00000388948.3:c.5738T>C	p.Leu1913Pro	p.L1913P	ENST00000388948	NM_024652.3	1913	cTc/cCc	0	1	1	UPI0000D4FE63	0	NA	ENST00000388948		ENSG00000154237	18608		49	1.87		HGNC	p.L1913P		LRRK1		SNV							ENST00000388948	protein_coding	getma.org/?cm=var&var=hg19,15,101606380,T,C&fts=all				L/P		C	low	6097/7671		getma.org/?cm=msa&ty=f&p=LRRK1_HUMAN&rb=1579&re=2013&var=L1913P	deleterious(0)	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN			YES	LRRK1,missense_variant,p.Leu1910Pro,ENST00000284395,;LRRK1,missense_variant,p.Leu1913Pro,ENST00000388948,NM_024652.3;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,missense_variant,p.Leu590Pro,ENST00000526457,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;							MODERATE	5738/6048	L1913P	LRRK1_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000373600		CCDS42086.1			1	
DNAH3	0	LGGM	GRCh37	16	21061255	21061255	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	40	12	.	.	ENST00000261383.3:c.4323T>A	p.Asp1441Glu	p.D1441E	ENST00000261383	NM_017539.1	1441	gaT/gaA	0	1	1	UPI00001100F2	0	getma.org/pdb.php?prot=DYH3_HUMAN&from=1391&to=1621&var=D1441E	ENST00000261383		ENSG00000158486	2949		52	2.735		HGNC	p.D1441E		DNAH3		SNV							ENST00000415178	protein_coding	getma.org/?cm=var&var=hg19,16,21061255,A,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242,SMART_domains:SM00382,Superfamily_domains:SSF52540		D/E		T	medium	4323/12394		getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=1391&re=1621&var=D1441E	deleterious(0.01)				YES	DNAH3,missense_variant,p.Asp1441Glu,ENST00000261383,NM_017539.1;DNAH3,missense_variant,p.Asp1441Glu,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;							MODERATE	4323/12351	D1441E	DYH3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261383		CCDS10594.1			1	
SCN10A	0	LGGM	GRCh37	3	38830499	38830499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	24	13	.	.	ENST00000449082.2:c.418A>G	p.Ile140Val	p.I140V	ENST00000449082	NM_006514.2	140	Att/Gtt	0	1	1	UPI0000209BDA	0	NA	ENST00000449082		ENSG00000185313	10582		37	1.72		HGNC	p.I140V		SCN10A		SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38830499,T,C&fts=all		Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		I/V		C	low	418/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1&re=154&var=I140V	tolerated(0.1)				YES	SCN10A,missense_variant,p.Ile140Val,ENST00000449082,NM_006514.2;							MODERATE	418/5871	I140V	SCNAA_HUMAN			Transcript		benign(0.338)	.	ENSP00000390600		CCDS33736.1			1	
GPR160	0	LGGM	GRCh37	3	169801794	169801794	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	38	13	.	.	ENST00000355897.5:c.34C>G	p.Gln12Glu	p.Q12E	ENST00000355897	NM_014373.2	12	Cag/Gag	0	1	1	UPI0000033731	0	NA	ENST00000355897		ENSG00000173890	23693		51	1.7		HGNC	p.Q12E		GPR160		SNV							ENST00000482710	protein_coding	getma.org/?cm=var&var=hg19,3,169801794,C,G&fts=all		hmmpanther:PTHR15573		Q/E		G	low	642/2039		getma.org/?cm=msa&ty=f&p=GP160_HUMAN&rb=1&re=291&var=Q12E	tolerated(0.05)	C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN			YES	GPR160,missense_variant,p.Gln12Glu,ENST00000355897,NM_014373.2;GPR160,missense_variant,p.Gln12Glu,ENST00000492492,;GPR160,missense_variant,p.Gln12Glu,ENST00000473675,;GPR160,missense_variant,p.Gln12Glu,ENST00000482710,;GPR160,missense_variant,p.Gln12Glu,ENST00000485735,;PHC3,downstream_gene_variant,,ENST00000495893,NM_024947.3;PHC3,downstream_gene_variant,,ENST00000484068,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;							MODERATE	34/1017	Q12E	GP160_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000348161		CCDS3211.1			1	
DNAJC6	0	LGGM	GRCh37	1	65855251	65855251	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	35	13	.	.	ENST00000371069.4:c.1409C>A	p.Pro470His	p.P470H	ENST00000371069	NM_001256864.1	470	cCt/cAt	0	1		UPI000007355D	0	NA	ENST00000395325		ENSG00000116675	15469		48	0.755		HGNC	p.P400H		DNAJC6		SNV			1				ENST00000263441	protein_coding	getma.org/?cm=var&var=hg19,1,65855251,C,A&fts=all		hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4		P/H		A	neutral	1395/5743		getma.org/?cm=msa&ty=f&p=AUXI_HUMAN&rb=380&re=427&var=P413H	tolerated(0.09)					DNAJC6,missense_variant,p.Pro413His,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Pro470His,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Pro400His,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Pro444His,ENST00000494710,;DNAJC6,downstream_gene_variant,,ENST00000498720,;							MODERATE	1238/2742	P413H	AUXI_HUMAN			Transcript		benign(0.002)	.	ENSP00000378735		CCDS30739.1			1	
MCF2L	0	LGGM	GRCh37	13	113742683	113742683	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	29	14	.	.	ENST00000535094.2:c.2731C>T	p.Arg911Trp	p.R911W	ENST00000535094	NM_001112732.2	911	Cgg/Tgg	0	1		UPI0000458952	0	getma.org/pdb.php?prot=MCF2L_HUMAN&from=834&to=945&var=R941W	ENST00000375608		ENSG00000126217	14576		43	3.23		HGNC	p.R915W	COSM945531,COSM1586872,COSM1586873,COSM3417390	MCF2L		SNV						1,1,1,1	ENST00000375601	protein_coding	getma.org/?cm=var&var=hg19,13,113742683,C,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/W		T	medium	2879/3648		getma.org/?cm=msa&ty=f&p=MCF2L_HUMAN&rb=834&re=945&var=R941W	deleterious(0)	B7ZBR9_HUMAN				MCF2L,missense_variant,p.Arg944Trp,ENST00000397030,;MCF2L,missense_variant,p.Arg915Trp,ENST00000375601,;MCF2L,missense_variant,p.Arg968Trp,ENST00000375604,;MCF2L,missense_variant,p.Arg572Trp,ENST00000397017,;MCF2L,missense_variant,p.Arg911Trp,ENST00000535094,NM_001112732.2;MCF2L,missense_variant,p.Arg941Trp,ENST00000375608,;MCF2L,missense_variant,p.Arg909Trp,ENST00000423482,NM_024979.4;MCF2L,missense_variant,p.Arg917Trp,ENST00000434480,;MCF2L,missense_variant,p.Arg915Trp,ENST00000421756,;MCF2L,missense_variant,p.Arg941Trp,ENST00000442652,;MCF2L,missense_variant,p.Arg909Trp,ENST00000375597,;MCF2L,missense_variant,p.Arg82Trp,ENST00000261963,;MCF2L,missense_variant,p.Arg66Trp,ENST00000453297,;MCF2L,missense_variant,p.Arg141Trp,ENST00000413354,;MCF2L,missense_variant,p.Arg17Trp,ENST00000439475,;MCF2L,upstream_gene_variant,,ENST00000420013,;MCF2L,upstream_gene_variant,,ENST00000441756,;MCF2L,upstream_gene_variant,,ENST00000491028,;MCF2L,downstream_gene_variant,,ENST00000487354,;					1,1,1,1		MODERATE	2821/3414	R941W	MCF2L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364758					1	
ITSN1	0	LGGM	GRCh37	21	35107380	35107380	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	37	14	.	.	ENST00000381318.3:c.217A>G	p.Met73Val	p.M73V	ENST00000381318	NM_003024.2	73	Atg/Gtg	0	1	1	UPI00001403C6	0	getma.org/pdb.php?prot=ITSN1_HUMAN&from=16&to=108&var=M73V	ENST00000381318		ENSG00000205726	6183		51	2.115		HGNC	p.M73V		ITSN1		SNV							ENST00000381283	protein_coding	getma.org/?cm=var&var=hg19,21,35107380,A,G&fts=all		PROSITE_profiles:PS50222,PROSITE_profiles:PS50031,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,PROSITE_patterns:PS00018,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00054,SMART_domains:SM00027,Superfamily_domains:SSF47473		M/V		G	medium	505/17015		getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=16&re=108&var=M73V	deleterious(0.02)	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,missense_variant,p.Met73Val,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Met73Val,ENST00000381285,;ITSN1,missense_variant,p.Met73Val,ENST00000399367,;ITSN1,missense_variant,p.Met73Val,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Met73Val,ENST00000399352,;ITSN1,missense_variant,p.Met73Val,ENST00000399349,;ITSN1,missense_variant,p.Met73Val,ENST00000399326,;ITSN1,missense_variant,p.Met73Val,ENST00000437442,;ITSN1,missense_variant,p.Met73Val,ENST00000399355,;ITSN1,missense_variant,p.Met73Val,ENST00000399353,;ITSN1,missense_variant,p.Met73Val,ENST00000379960,;ITSN1,missense_variant,p.Met73Val,ENST00000399338,;ITSN1,missense_variant,p.Met73Val,ENST00000381283,;ITSN1,missense_variant,p.Met73Val,ENST00000444491,;ITSN1,missense_variant,p.Met73Val,ENST00000451686,;ITSN1,missense_variant,p.Met13Val,ENST00000456489,;AP000304.12,intron_variant,,ENST00000429238,;							MODERATE	217/5166	M73V	ITSN1_HUMAN			Transcript		unknown(0)	.	ENSP00000370719		CCDS33545.1			1	
BBS7	0	LGGM	GRCh37	4	122749656	122749656	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	14	14	.	.	ENST00000264499.4:c.1791A>G	p.Ile597Met	p.I597M	ENST00000264499	NM_176824.2	597	atA/atG	0	1	1	UPI00001684D7	0	NA	ENST00000264499		ENSG00000138686	18758		28	2.545		HGNC	p.I597M		BBS7		SNV			1				ENST00000506636	protein_coding	getma.org/?cm=var&var=hg19,4,122749656,T,C&fts=all		hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091		I/M		C	medium	1975/3752		getma.org/?cm=msa&ty=f&p=BBS7_HUMAN&rb=12&re=710&var=I597M	deleterious(0.03)	H0Y973_HUMAN			YES	BBS7,missense_variant,p.Ile597Met,ENST00000264499,NM_176824.2;BBS7,missense_variant,p.Ile597Met,ENST00000506636,NM_018190.3;BBS7,missense_variant,p.Ile20Met,ENST00000507814,;CCNA2,upstream_gene_variant,,ENST00000274026,NM_001237.3;							MODERATE	1791/2148	I597M	BBS7_HUMAN			Transcript		benign(0.276)	.	ENSP00000264499		CCDS3724.1			1	
ABCA13	0	LGGM	GRCh37	7	48315810	48315810	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	31	14	.	.	ENST00000435803.1:c.6547G>A	p.Val2183Ile	p.V2183I	ENST00000435803	NM_152701.3	2183	Gtt/Att	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		45	1.385		HGNC	p.V2183I		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48315810,G,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		V/I		A	low	6571/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=2001&re=2200&var=V2183I					YES	ABCA13,missense_variant,p.Val2183Ile,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							MODERATE	6547/15177	V2183I	ABCAD_HUMAN			Transcript		benign(0.01)	.	ENSP00000411096		CCDS47584.1			1	
DHRS4	0	LGGM	GRCh37	14	24435011	24435011	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	31	15	.	.	ENST00000313250.5:c.449A>G	p.Lys150Arg	p.K150R	ENST00000313250	NM_021004.2	150	aAg/aGg	0	1	1	UPI000003F541	0	getma.org/pdb.php?prot=DHRS4_HUMAN&from=38&to=275&var=K150R	ENST00000313250		ENSG00000157326	16985		46	-0.245		HGNC	p.K150R		DHRS4		SNV							ENST00000313250	protein_coding	getma.org/?cm=var&var=hg19,14,24435011,A,G&fts=all		hmmpanther:PTHR24322:SF198,hmmpanther:PTHR24322,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		K/R		G	neutral	652/1443		getma.org/?cm=msa&ty=f&p=DHRS4_HUMAN&rb=38&re=275&var=K150R	deleterious(0.04)	H0YLE1_HUMAN			YES	DHRS4,missense_variant,p.Lys150Arg,ENST00000313250,NM_021004.2;DHRS4,missense_variant,p.Lys116Arg,ENST00000558581,NM_001282988.1;DHRS4,missense_variant,p.Lys116Arg,ENST00000559632,NM_001282990.1;DHRS4,missense_variant,p.Lys98Arg,ENST00000421831,;DHRS4,missense_variant,p.Lys98Arg,ENST00000397073,;DHRS4,intron_variant,,ENST00000543741,;DHRS4,intron_variant,,ENST00000558263,NM_001282987.1;DHRS4,intron_variant,,ENST00000397074,NM_001282991.1;DHRS4,intron_variant,,ENST00000397075,NM_001282989.1;DHRS4,intron_variant,,ENST00000382761,;DHRS4,intron_variant,,ENST00000308178,;DHRS4L2,upstream_gene_variant,,ENST00000534993,;DHRS4L2,upstream_gene_variant,,ENST00000543805,;DHRS4,upstream_gene_variant,,ENST00000559975,;DHRS4-AS1,intron_variant,,ENST00000558423,;							MODERATE	449/837	K150R	DHRS4_HUMAN			Transcript		possibly_damaging(0.518)	.	ENSP00000326219		CCDS9605.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81598288	81598288	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	24	15	.	.	ENST00000356860.3:c.2310A>G	p.Lys770=	p.K770=	ENST00000356860	NM_000722.2	770	aaA/aaG	0	1		UPI0001B9E74B	0		ENST00000356253		ENSG00000153956	1399		39			HGNC	p.K782K		CACNA2D1		SNV			1				ENST00000356253	protein_coding			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6		K		C		2602/3858				Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,splice_region_variant,p.=,ENST00000356860,NM_000722.2;CACNA2D1,splice_region_variant,p.=,ENST00000356253,;CACNA2D1,intron_variant,,ENST00000535308,;CACNA2D1,downstream_gene_variant,,ENST00000443883,;CACNA2D1,intron_variant,,ENST00000486539,;CACNA2D1,upstream_gene_variant,,ENST00000469297,;							LOW	2346/3312		CA2D1_HUMAN			Transcript			.	ENSP00000348589					1	
BAZ2A	0	LGGM	GRCh37	12	56994814	56994814	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	8	15	.	.	ENST00000551812.1:c.4369C>T	p.Pro1457Ser	p.P1457S	ENST00000551812	NM_013449.3	1457	Ccc/Tcc	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		23	1.32		HGNC	p.P1457S		BAZ2A		SNV							ENST00000551812	protein_coding	getma.org/?cm=var&var=hg19,12,56994814,G,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141,Pfam_domain:PF15614		P/S		A	low	4563/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=1311&re=1510&var=P1457S	deleterious(0)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Pro1425Ser,ENST00000179765,;BAZ2A,missense_variant,p.Pro1427Ser,ENST00000379441,;BAZ2A,missense_variant,p.Pro1457Ser,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Pro1455Ser,ENST00000549884,;BAZ2A,missense_variant,p.Pro389Ser,ENST00000549787,;BAZ2A,missense_variant,p.Pro104Ser,ENST00000547453,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000548578,;BAZ2A,downstream_gene_variant,,ENST00000551759,;							MODERATE	4369/5718	P1457S	BAZ2A_HUMAN			Transcript		benign(0.054)	.	ENSP00000446880		CCDS44924.1			1	
ERCC5	0	LGGM	GRCh37	13	103514870	103514870	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	24	16	.	.	ENST00000355739.4:c.1371C>G	p.His457Gln	p.H457Q	ENST00000355739	NM_000123.3	457	caC/caG	0	1	1	UPI000006D0C3	0	NA	ENST00000355739		ENSG00000134899	3437		40	1.1		HGNC	p.H457Q		ERCC5		SNV			1				ENST00000355739	protein_coding	getma.org/?cm=var&var=hg19,13,103514870,C,G&fts=all		hmmpanther:PTHR16171,TIGRFAM_domain:TIGR00600		H/Q		G	low	2794/5076		getma.org/?cm=msa&ty=f&p=ERCC5_HUMAN&rb=253&re=754&var=H457Q	tolerated(0.6)				YES	ERCC5,missense_variant,p.His457Gln,ENST00000355739,NM_000123.3;BIVM-ERCC5,missense_variant,p.His883Gln,ENST00000602836,NM_001204425.1;ERCC5,upstream_gene_variant,,ENST00000375954,;ERCC5,downstream_gene_variant,,ENST00000535557,;ERCC5,upstream_gene_variant,,ENST00000481099,;							MODERATE	1371/3561	H457Q	ERCC5_HUMAN			Transcript		benign(0.039)	.	ENSP00000347978		CCDS32004.1			1	
PTCD3	0	LGGM	GRCh37	2	86355088	86355088	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	54	16	.	.	ENST00000254630.7:c.1121A>G	p.His374Arg	p.H374R	ENST00000254630	NM_017952.5	374	cAt/cGt	0	1	1	UPI0000208870	0	NA	ENST00000254630		ENSG00000132300	24717		70	2.28		HGNC	p.H374R		PTCD3		SNV							ENST00000254630	protein_coding	getma.org/?cm=var&var=hg19,2,86355088,A,G&fts=all		hmmpanther:PTHR16276,hmmpanther:PTHR16276:SF0		H/R		G	medium	1187/6734		getma.org/?cm=msa&ty=f&p=PTCD3_HUMAN&rb=368&re=567&var=H374R	deleterious(0.01)				YES	PTCD3,missense_variant,p.His374Arg,ENST00000254630,NM_017952.5;PTCD3,downstream_gene_variant,,ENST00000409277,;PTCD3,upstream_gene_variant,,ENST00000494323,;PTCD3,non_coding_transcript_exon_variant,,ENST00000487043,;PTCD3,non_coding_transcript_exon_variant,,ENST00000464541,;PTCD3,non_coding_transcript_exon_variant,,ENST00000469585,;PTCD3,non_coding_transcript_exon_variant,,ENST00000476215,;PTCD3,downstream_gene_variant,,ENST00000484203,;PTCD3,upstream_gene_variant,,ENST00000493430,;PTCD3,upstream_gene_variant,,ENST00000467273,;PTCD3,downstream_gene_variant,,ENST00000480102,;							MODERATE	1121/2070	H374R	PTCD3_HUMAN			Transcript		benign(0.439)	.	ENSP00000254630		CCDS33235.1			1	
NUTM2F	0	LGGM	GRCh37	9	97081230	97081230	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	32	16	.	.	ENST00000253262.4:c.1788C>T	p.Pro596=	p.P596=	ENST00000253262	NM_017561.1	596	ccC/ccT	0	1	1	UPI00001D771D	0		ENST00000253262		ENSG00000130950	23450		48			HGNC	p.P596P		NUTM2F		SNV							ENST00000253262	protein_coding			Pfam_domain:PF12882,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12		P		A		1809/2561							YES	NUTM2F,synonymous_variant,p.=,ENST00000253262,NM_017561.1;NUTM2F,synonymous_variant,p.=,ENST00000341207,;NUTM2F,intron_variant,,ENST00000335456,;							LOW	1788/2271		NTM2F_HUMAN			Transcript			.	ENSP00000253262		CCDS47994.1			1	
SCN11A	0	LGGM	GRCh37	3	38908863	38908863	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	36	17	.	.	ENST00000302328.3:c.3900G>T	p.Leu1300=	p.L1300=	ENST00000302328	NM_014139.2	1300	ctG/ctT	0	1	1	UPI000006CCD7	0		ENST00000302328		ENSG00000168356	10583		53			HGNC	p.L1300L		SCN11A		SNV			1				ENST00000450244	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		L		A		4099/6500							YES	SCN11A,synonymous_variant,p.=,ENST00000450244,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000444237,;SCN11A,synonymous_variant,p.=,ENST00000456224,;							LOW	3900/5376		SCNBA_HUMAN			Transcript			.	ENSP00000307599		CCDS33737.1			1	
MMP14	0	LGGM	GRCh37	14	23315096	23315096	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	16	17	.	.	ENST00000311852.6:c.1597G>A	p.Gly533Ser	p.G533S	ENST00000311852	NM_004995.3	533	Ggc/Agc	0	1	1	UPI0000048136	0	NA	ENST00000311852		ENSG00000157227	7160		33	0.895		HGNC	p.G533S		MMP14		SNV			1				ENST00000311852	protein_coding	getma.org/?cm=var&var=hg19,14,23315096,G,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF11857		G/S		A	low	1858/3732		getma.org/?cm=msa&ty=f&p=MMP14_HUMAN&rb=508&re=582&var=G533S	tolerated(0.75)				YES	MMP14,missense_variant,p.Gly533Ser,ENST00000311852,NM_004995.3;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,intron_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;							MODERATE	1597/1749	G533S	MMP14_HUMAN			Transcript		benign(0.003)	.	ENSP00000308208		CCDS9577.1			1	
RPL38	0	LGGM	GRCh37	17	72205962	72205962	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	46	17	.	.	ENST00000311111.6:c.207G>A	p.Leu69=	p.L69=	ENST00000311111		69	ctG/ctA	0	1	1	UPI0000003198	0		ENST00000311111		ENSG00000172809	10349		63			HGNC	p.L69L		RPL38		SNV							ENST00000311111	protein_coding			Pfam_domain:PF01781,hmmpanther:PTHR10965		L		A		338/1170				J3KSP2_HUMAN			YES	RPL38,synonymous_variant,p.=,ENST00000311111,;RPL38,synonymous_variant,p.=,ENST00000533498,;RPL38,synonymous_variant,p.=,ENST00000439590,NM_001035258.1;RPL38,synonymous_variant,p.=,ENST00000584577,NM_000999.3;TTYH2,upstream_gene_variant,,ENST00000269346,NM_032646.5;RPL38,downstream_gene_variant,,ENST00000534490,;CTD-2514K5.2,downstream_gene_variant,,ENST00000499670,;CTD-2514K5.2,downstream_gene_variant,,ENST00000532794,;CTD-2514K5.2,downstream_gene_variant,,ENST00000531617,;RPL38,downstream_gene_variant,,ENST00000530646,;							LOW	207/213		RL38_HUMAN			Transcript			.	ENSP00000309830		CCDS11696.1			1	
ACVR1C	0	LGGM	GRCh37	2	158399250	158399250	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	53	18	.	.	ENST00000243349.8:c.1068C>T	p.Asp356=	p.D356=	ENST00000243349	NM_001111032.1	356	gaC/gaT	0	1	1	UPI000006CFAE	0		ENST00000243349		ENSG00000123612	18123		71			HGNC	p.D306D		ACVR1C		SNV							ENST00000409680	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF58,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		D		A		1429/8994				Q53SF5_HUMAN			YES	ACVR1C,synonymous_variant,p.=,ENST00000243349,NM_001111032.1,NM_145259.2;ACVR1C,synonymous_variant,p.=,ENST00000409680,NM_001111031.1;ACVR1C,synonymous_variant,p.=,ENST00000335450,;ACVR1C,synonymous_variant,p.=,ENST00000348328,NM_001111033.1;							LOW	1068/1482		ACV1C_HUMAN			Transcript			.	ENSP00000243349		CCDS2205.1			1	
PHACTR3	0	LGGM	GRCh37	20	58415457	58415457	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	29	18	.	.	ENST00000371015.1:c.1418G>C	p.Arg473Thr	p.R473T	ENST00000371015	NM_080672.4	473	aGa/aCa	0	1	1	UPI000006D452	0	NA	ENST00000371015		ENSG00000087495	15833		47	1.845		HGNC	p.R432T		PHACTR3		SNV							ENST00000541461	protein_coding	getma.org/?cm=var&var=hg19,20,58415457,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7		R/T		C	low	1885/2728		getma.org/?cm=msa&ty=f&p=PHAR3_HUMAN&rb=435&re=506&var=R473T	deleterious(0)	F6RP66_HUMAN			YES	PHACTR3,missense_variant,p.Arg473Thr,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Arg362Thr,ENST00000395639,;PHACTR3,missense_variant,p.Arg432Thr,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Arg470Thr,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Arg432Thr,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Arg362Thr,ENST00000361300,NM_183246.1;PHACTR3,missense_variant,p.Arg432Thr,ENST00000541461,NM_001281507.1;PHACTR3,non_coding_transcript_exon_variant,,ENST00000492611,;PHACTR3,upstream_gene_variant,,ENST00000473657,;							MODERATE	1418/1680	R473T	PHAR3_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000360054		CCDS13480.1			1	
KLHL28	0	LGGM	GRCh37	14	45414938	45414938	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	38	19	.	.	ENST00000396128.4:c.194C>T	p.Thr65Ile	p.T65I	ENST00000396128	NM_017658.3	65	aCt/aTt	0	1	1	UPI00001FD46D	0	getma.org/pdb.php?prot=KLH28_HUMAN&from=25&to=132&var=T65I	ENST00000396128		ENSG00000179454	19741		57	2.935		HGNC	p.T65I		KLHL28		SNV							ENST00000556239	protein_coding	getma.org/?cm=var&var=hg19,14,45414938,G,A&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF30,SMART_domains:SM00225,Superfamily_domains:SSF54695		T/I		A	medium	314/6545		getma.org/?cm=msa&ty=f&p=KLH28_HUMAN&rb=25&re=132&var=T65I	deleterious(0)	J3KRJ0_HUMAN,G3V5Y9_HUMAN,G3V4Y0_HUMAN,G3V2P9_HUMAN			YES	KLHL28,missense_variant,p.Thr65Ile,ENST00000396128,NM_017658.3;KLHL28,missense_variant,p.Thr79Ile,ENST00000355081,;KLHL28,missense_variant,p.Thr65Ile,ENST00000556500,;KLHL28,missense_variant,p.Thr65Ile,ENST00000579157,;KLHL28,missense_variant,p.Thr65Ile,ENST00000556239,;KLHL28,downstream_gene_variant,,ENST00000557468,;							MODERATE	194/1716	T65I	KLH28_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000379434		CCDS9680.1			1	
SLC6A6	0	LGGM	GRCh37	3	14508054	14508054	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	25	20	.	.	ENST00000454876.2:c.763G>T	p.Ala255Ser	p.A255S	ENST00000454876	NM_001134367.2	255	Gcc/Tcc	0	1	1	UPI000013549A	0	getma.org/pdb.php?prot=SC6A6_HUMAN&from=41&to=568&var=A255S	ENST00000454876		ENSG00000131389	11052		45	1.115		HGNC	p.A255S		SLC6A6		SNV							ENST00000454876	protein_coding	getma.org/?cm=var&var=hg19,3,14508054,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		A/S		T	low	1092/6534		getma.org/?cm=msa&ty=f&p=SC6A6_HUMAN&rb=41&re=568&var=A255S	tolerated(0.07)	C9JPV1_HUMAN			YES	SLC6A6,missense_variant,p.Ala255Ser,ENST00000454876,NM_001134367.2,NM_003043.4;SLC6A6,missense_variant,p.Ala255Ser,ENST00000360861,;SLC6A6,missense_variant,p.Ala255Ser,ENST00000458124,;SLC6A6,missense_variant,p.Ala255Ser,ENST00000427436,;							MODERATE	763/1863	A255S	SC6A6_HUMAN			Transcript		possibly_damaging(0.527)	.	ENSP00000398063		CCDS33705.1			1	
PTGDR	0	LGGM	GRCh37	14	52734990	52734990	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	29	21	.	.	ENST00000306051.2:c.458C>T	p.Ala153Val	p.A153V	ENST00000306051	NM_000953.2	153	gCc/gTc	0	1	1	UPI000000D994	0	NA	ENST00000306051		ENSG00000168229	9591		50	1.245		HGNC	p.A153V		PTGDR		SNV			1				ENST00000306051	protein_coding	getma.org/?cm=var&var=hg19,14,52734990,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/V		T	low	560/2942		getma.org/?cm=msa&ty=f&p=PD2R_HUMAN&rb=48&re=323&var=A153V	tolerated(0.26)				YES	PTGDR,missense_variant,p.Ala153Val,ENST00000306051,NM_000953.2;PTGDR,missense_variant,p.Ala153Val,ENST00000553372,NM_001281469.1;							MODERATE	458/1080	A153V	PD2R_HUMAN			Transcript		benign(0.271)	.	ENSP00000303424		CCDS9707.1			1	
PIP5K1B	0	LGGM	GRCh37	9	71503986	71503986	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	21	22	.	.	ENST00000265382.3:c.408C>T	p.Ile136=	p.I136=	ENST00000265382	NM_003558.3	136	atC/atT	0	1	1	UPI000002E327	0		ENST00000265382		ENSG00000107242	8995		43			HGNC	p.I136I		PIP5K1B		SNV							ENST00000440050	protein_coding			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF34,Pfam_domain:PF01504,Gene3D:2gk9B01,SMART_domains:SM00330,Superfamily_domains:SSF56104		I		T		713/2654				Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN			YES	PIP5K1B,synonymous_variant,p.=,ENST00000265382,NM_003558.3;PIP5K1B,synonymous_variant,p.=,ENST00000541509,NM_001278253.1;PIP5K1B,synonymous_variant,p.=,ENST00000440050,;PIP5K1B,synonymous_variant,p.=,ENST00000437200,;PIP5K1B,synonymous_variant,p.=,ENST00000478500,;							LOW	408/1623		PI51B_HUMAN			Transcript			.	ENSP00000265382		CCDS6624.1			1	
IGLV1-36	0	LGGM	GRCh37	22	22786760	22786760	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	58	22	.	.	ENST00000390301.2:c.310G>T	p.Ala104Ser	p.A104S	ENST00000390301		104	Gct/Tct	0	1	1	UPI000011717F	0		ENST00000390301		ENSG00000211655	5876		80			HGNC	p.A104S		IGLV1-36		SNV							ENST00000390301	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF116,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		A/S		T		350/392			deleterious_low_confidence(0)	Q5NV70_HUMAN			YES	IGLV1-36,missense_variant,p.Ala104Ser,ENST00000390301,;IGLV5-37,downstream_gene_variant,,ENST00000390300,;							MODERATE	310/352					Transcript		possibly_damaging(0.846)	.	ENSP00000374836					1	
LYN	0	LGGM	GRCh37	8	56879351	56879351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	31	22	.	.	ENST00000519728.1:c.868G>A	p.Glu290Lys	p.E290K	ENST00000519728	NM_002350.3	290	Gaa/Aaa	0	1	1	UPI000013DACD	0	getma.org/pdb.php?prot=LYN_HUMAN&from=247&to=497&var=E290K	ENST00000519728		ENSG00000254087	6735		53	4.215		HGNC	p.E269K	COSM1457573	LYN		SNV						1	ENST00000520220	protein_coding	getma.org/?cm=var&var=hg19,8,56879351,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,Superfamily_domains:SSF56112		E/K		A	high	1164/2297		getma.org/?cm=msa&ty=f&p=LYN_HUMAN&rb=247&re=497&var=E290K	deleterious(0)	E5RJ37_HUMAN,B4DQ79_HUMAN			YES	LYN,missense_variant,p.Glu269Lys,ENST00000520220,NM_001111097.2;LYN,missense_variant,p.Glu290Lys,ENST00000519728,NM_002350.3;LYN,non_coding_transcript_exon_variant,,ENST00000420292,;					1		MODERATE	868/1539	E290K	LYN_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000428924		CCDS6162.1			1	
CLEC16A	0	LGGM	GRCh37	16	11065064	11065064	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	56	22	.	.	ENST00000409790.1:c.575C>T	p.Thr192Ile	p.T192I	ENST00000409790	NM_015226.2	192	aCc/aTc	0	1	1	UPI0000253BAD	0	NA	ENST00000409790		ENSG00000038532	29013		78	3.07		HGNC	p.T192I		CLEC16A		SNV							ENST00000409790	protein_coding	getma.org/?cm=var&var=hg19,16,11065064,C,T&fts=all		hmmpanther:PTHR21481,Pfam_domain:PF09758		T/I		T	medium	805/6891		getma.org/?cm=msa&ty=f&p=CL16A_HUMAN&rb=51&re=199&var=T192I	deleterious(0)				YES	CLEC16A,missense_variant,p.Thr192Ile,ENST00000409790,NM_015226.2;CLEC16A,missense_variant,p.Thr192Ile,ENST00000409552,NM_001243403.1;CLEC16A,upstream_gene_variant,,ENST00000494853,;							MODERATE	575/3162	T192I	CL16A_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000387122		CCDS45409.1			1	
NR2C2	0	LGGM	GRCh37	3	15071875	15071875	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	43	24	.	.	ENST00000323373.6:c.1083C>T	p.Ser361=	p.S361=	ENST00000323373	NM_003298.3	361	agC/agT	0	1		UPI0000047515	0		ENST00000393102		ENSG00000177463	7972		67			HGNC	p.S361S		NR2C2		SNV							ENST00000323373	protein_coding			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF48,Superfamily_domains:SSF48508		S		T		1151/1937				C9JMI6_HUMAN				NR2C2,synonymous_variant,p.=,ENST00000425241,;NR2C2,synonymous_variant,p.=,ENST00000323373,NM_003298.3;NR2C2,synonymous_variant,p.=,ENST00000393102,;NR2C2,synonymous_variant,p.=,ENST00000406272,;NR2C2,upstream_gene_variant,,ENST00000439011,;NR2C2,upstream_gene_variant,,ENST00000413194,;NR2C2,non_coding_transcript_exon_variant,,ENST00000478572,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;NR2C2,upstream_gene_variant,,ENST00000495282,;							LOW	1026/1791		NR2C2_HUMAN			Transcript			.	ENSP00000376814					1	
SIRPG	0	LGGM	GRCh37	20	1629751	1629751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	37	24	.	.	ENST00000303415.3:c.377G>A	p.Ser126Asn	p.S126N	ENST00000303415	NM_018556.3	126	aGc/aAc	0	1	1	UPI00001AE5FD	0	getma.org/pdb.php?prot=SIRPG_HUMAN&from=31&to=140&var=S126N	ENST00000303415		ENSG00000089012	15757		61	0.785		HGNC	p.S126N		SIRPG		SNV							ENST00000216927	protein_coding	getma.org/?cm=var&var=hg19,20,1629751,C,T&fts=all		hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/N		T	neutral	442/1716		getma.org/?cm=msa&ty=f&p=SIRPG_HUMAN&rb=31&re=140&var=S126N	tolerated(0.21)				YES	SIRPG,missense_variant,p.Ser93Asn,ENST00000381580,;SIRPG,missense_variant,p.Ser126Asn,ENST00000303415,NM_018556.3;SIRPG,missense_variant,p.Ser126Asn,ENST00000381583,NM_001039508.1;SIRPG,missense_variant,p.Ser126Asn,ENST00000344103,NM_080816.2;SIRPG,missense_variant,p.Ser126Asn,ENST00000216927,;RP11-77C3.3,downstream_gene_variant,,ENST00000456177,;							MODERATE	377/1164	S126N	SIRPG_HUMAN			Transcript		benign(0.003)	.	ENSP00000305529		CCDS13020.2			1	
PLA2R1	0	LGGM	GRCh37	2	160884751	160884751	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	48	25	.	.	ENST00000283243.7:c.1077C>G	p.Asn359Lys	p.N359K	ENST00000283243	NM_001195641.1	359	aaC/aaG	0	1	1	UPI00001AEA9D	0	NA	ENST00000283243		ENSG00000153246	9042		73	2.365		HGNC	p.N359K		PLA2R1		SNV							ENST00000392771	protein_coding	getma.org/?cm=var&var=hg19,2,160884751,G,C&fts=all		hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10,Superfamily_domains:SSF56436		N/K		C	medium	1284/8526		getma.org/?cm=msa&ty=f&p=PLA2R_HUMAN&rb=357&re=394&var=N359K	deleterious(0.02)				YES	PLA2R1,missense_variant,p.Asn359Lys,ENST00000283243,NM_001195641.1,NM_007366.4;PLA2R1,missense_variant,p.Asn359Lys,ENST00000392771,NM_001007267.2;							MODERATE	1077/4392	N359K	PLA2R_HUMAN			Transcript		benign(0.027)	.	ENSP00000283243		CCDS33309.1			1	
GABRB2	0	LGGM	GRCh37	5	160721270	160721270	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	38	26	.	.	ENST00000274547.2:c.1357C>T	p.Arg453Ter	p.R453*	ENST00000274547	NM_000813.2	453	Cga/Tga	0	1	1	UPI000002AA29	0	NA	ENST00000274547		ENSG00000145864	4082		64	0		HGNC	p.R415X		GABRB2		SNV							ENST00000520240	protein_coding	getma.org/?cm=var&var=hg19,5,160721270,G,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112		R/*		A	NA	1575/7385		NA		D1M715_HUMAN			YES	GABRB2,stop_gained,p.Arg453Ter,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,stop_gained,p.Arg453Ter,ENST00000393959,;GABRB2,stop_gained,p.Arg415Ter,ENST00000520240,;GABRB2,stop_gained,p.Arg415Ter,ENST00000353437,;GABRB2,stop_gained,p.Arg352Ter,ENST00000517901,;GABRB2,stop_gained,p.Arg255Ter,ENST00000517547,;							HIGH	1357/1539	R453*	GBRB2_HUMAN			Transcript			.	ENSP00000274547		CCDS4355.1			1	
MCM3	0	LGGM	GRCh37	6	52133903	52133903	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	32	27	.	.	ENST00000596288.1:c.2084A>G	p.Gln695Arg	p.Q695R	ENST00000596288	NM_002388.4	695	cAg/cGg	0	1		UPI000012ED97	0	getma.org/pdb.php?prot=MCM3_HUMAN&from=280&to=654&var=Q650R	ENST00000229854		ENSG00000112118	6945		59	-0.025		HGNC	p.Q145R		MCM3		SNV							ENST00000421471	protein_coding	getma.org/?cm=var&var=hg19,6,52133903,T,C&fts=all		Pfam_domain:PF00493,Prints_domain:PR01659,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,SMART_domains:SM00350,Superfamily_domains:SSF52540		Q/R		C	neutral	2026/3083		getma.org/?cm=msa&ty=f&p=MCM3_HUMAN&rb=280&re=654&var=Q650R	tolerated(1)	Q8NHX6_HUMAN				MCM3,missense_variant,p.Gln695Arg,ENST00000596288,NM_002388.4;MCM3,missense_variant,p.Gln650Arg,ENST00000229854,;MCM3,missense_variant,p.Gln604Arg,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Gln145Arg,ENST00000421471,;							MODERATE	1949/2427	Q650R	MCM3_HUMAN			Transcript		benign(0.128)	.	ENSP00000229854					1	
LAMA1	0	LGGM	GRCh37	18	6985342	6985342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	45	27	.	.	ENST00000389658.3:c.5554A>G	p.Ile1852Val	p.I1852V	ENST00000389658	NM_005559.3	1852	Ata/Gta	0	1	1	UPI00001C1FF9	0	NA	ENST00000389658		ENSG00000101680	6481		72	-1.24		HGNC	p.I1852V		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,6985342,T,C&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38		I/V		C	neutral	5648/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=1832&re=2010&var=I1852V	tolerated(1)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Ile1852Val,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;							MODERATE	5554/9228	I1852V	LAMA1_HUMAN			Transcript		benign(0)	.	ENSP00000374309		CCDS32787.1			1	
GPR98	0	LGGM	GRCh37	5	89979631	89979631	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	65	29	.	.	ENST00000405460.2:c.5893G>T	p.Ala1965Ser	p.A1965S	ENST00000405460	NM_032119.3	1965	Gcc/Tcc	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=1965&to=2079&var=A1965S	ENST00000405460		ENSG00000164199	17416		94	3.295		HGNC	p.A1965S		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89979631,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		A/S		T	medium	5989/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1965&re=2079&var=A1965S					YES	GPR98,missense_variant,p.Ala1965Ser,ENST00000405460,NM_032119.3;							MODERATE	5893/18921	A1965S	GPR98_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000384582		CCDS47246.1			1	
FAM83B	0	LGGM	GRCh37	6	54735158	54735158	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	67	30	.	.	ENST00000306858.7:c.114C>T	p.His38=	p.H38=	ENST00000306858	NM_001010872.2	38	caC/caT	0	1	1	UPI00001D81EC	0		ENST00000306858		ENSG00000168143	21357		97			HGNC	p.H38H	COSM1080387	FAM83B		SNV						1	ENST00000306858	protein_coding			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4,Pfam_domain:PF07894		H		T		230/3167							YES	FAM83B,synonymous_variant,p.=,ENST00000306858,NM_001010872.2;					1		LOW	114/3036		FA83B_HUMAN			Transcript			.	ENSP00000304078		CCDS34479.1			1	
LEPREL1	0	LGGM	GRCh37	3	189706701	189706701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	54	30	.	.	ENST00000319332.5:c.950A>G	p.Tyr317Cys	p.Y317C	ENST00000319332	NM_018192.3	317	tAt/tGt	0	1	1	UPI000007460B	0	NA	ENST00000319332		ENSG00000090530	19317		84	2.395		HGNC	p.Y136C	rs777638857	LEPREL1	6.06E-05	SNV			1				ENST00000427335	protein_coding	getma.org/?cm=var&var=hg19,3,189706701,T,C&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1,Superfamily_domains:SSF48452		Y/C		C	medium	1148/3509		getma.org/?cm=msa&ty=f&p=P3H2_HUMAN&rb=241&re=440&var=Y317C	deleterious(0.02)	D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN			YES	LEPREL1,missense_variant,p.Tyr317Cys,ENST00000319332,NM_018192.3;LEPREL1,missense_variant,p.Tyr136Cys,ENST00000427335,NM_001134418.1;LEPREL1,missense_variant,p.Tyr136Cys,ENST00000444866,;LEPREL1,downstream_gene_variant,,ENST00000426003,;LEPREL1,upstream_gene_variant,,ENST00000470925,;							MODERATE	950/2127	Y317C	P3H2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000316881	8.24E-06	CCDS3294.1			1	
TOP2A	0	LGGM	GRCh37	17	38563158	38563158	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	63	30	.	.	ENST00000423485.1:c.1663A>C	p.Asn555His	p.N555H	ENST00000423485	NM_001067.3	555	Aat/Cat	0	1	1	UPI0000137195	0	getma.org/pdb.php?prot=TOP2A_HUMAN&from=456&to=572&var=N555H	ENST00000423485		ENSG00000131747	11989		93	3.745		HGNC	p.N555H		TOP2A		SNV			1				ENST00000423485	protein_coding	getma.org/?cm=var&var=hg19,17,38563158,T,G&fts=all		PROSITE_profiles:PS50880,hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Pfam_domain:PF01751,Gene3D:3.40.50.670,SMART_domains:SM00433,Superfamily_domains:SSF56719,Prints_domain:PR00418,Prints_domain:PR01158		N/H		G	high	1822/5758		getma.org/?cm=msa&ty=f&p=TOP2A_HUMAN&rb=456&re=572&var=N555H	deleterious(0)	J3QR57_HUMAN,J3KTB7_HUMAN			YES	TOP2A,missense_variant,p.Asn555His,ENST00000423485,NM_001067.3;							MODERATE	1663/4596	N555H	TOP2A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000411532		CCDS45672.1			1	
SLC9C2	0	LGGM	GRCh37	1	173526596	173526596	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	58	31	.	.	ENST00000367714.3:c.1098A>T	p.Glu366Asp	p.E366D	ENST00000367714	NM_178527.3	366	gaA/gaT	0	1	1	UPI0000197379	0	NA	ENST00000367714		ENSG00000162753	28664		89	1.59		HGNC	p.E264D		SLC9C2		SNV							ENST00000536496	protein_coding	getma.org/?cm=var&var=hg19,1,173526596,T,A&fts=all		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF91		E/D		A	low	1521/4428		getma.org/?cm=msa&ty=f&p=S9A11_HUMAN&rb=32&re=428&var=E366D	tolerated(0.42)	F5H342_HUMAN			YES	SLC9C2,missense_variant,p.Glu366Asp,ENST00000367714,NM_178527.3;SLC9C2,missense_variant,p.Glu264Asp,ENST00000536496,;RP3-436N22.3,intron_variant,,ENST00000431459,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;							MODERATE	1098/3375	E366D	SL9C2_HUMAN			Transcript		benign(0.083)	.	ENSP00000356687		CCDS1308.1			1	
ZNF283	0	LGGM	GRCh37	19	44352483	44352483	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	24	33	.	.	ENST00000324461.7:c.1730G>A	p.Gly577Glu	p.G577E	ENST00000324461	NM_181845.1	577	gGg/gAg	0	1	1	UPI000155B91C	0	getma.org/pdb.php?prot=ZN283_HUMAN&from=557&to=582&var=G577E	ENST00000324461		ENSG00000167637	13077		57	1.965		HGNC	p.G438E	rs775716832	ZNF283		SNV				0.000101			ENST00000588797	protein_coding	getma.org/?cm=var&var=hg19,19,44352483,G,A&fts=all		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		G/E		A	medium	2027/2851		getma.org/?cm=msa&ty=f&p=ZN283_HUMAN&rb=537&re=602&var=G577E	tolerated(0.07)	K7ESH0_HUMAN,K7EL69_HUMAN			YES	ZNF283,missense_variant,p.Gly577Glu,ENST00000324461,NM_181845.1;ZNF283,missense_variant,p.Gly438Glu,ENST00000588797,;							MODERATE	1730/2040	G577E	ZN283_HUMAN			Transcript		benign(0.029)	.	ENSP00000327314	8.24E-06	CCDS46097.1			1	
FLG2	0	LGGM	GRCh37	1	152326793	152326793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	200	34	.	.	ENST00000388718.5:c.3469G>A	p.Gly1157Ser	p.G1157S	ENST00000388718	NM_001014342.2	1157	Ggt/Agt	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		234	1.87		HGNC	p.G1157S	rs754459885	FLG2	6.07E-05	SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152326793,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G/S		T	low	3542/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=G1157S					YES	FLG2,missense_variant,p.Gly1157Ser,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	3469/7176	G1157S	FILA2_HUMAN			Transcript		unknown(0)	.	ENSP00000373370	8.24E-06	CCDS30861.1			1	
NEBL	0	LGGM	GRCh37	10	21097531	21097531	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	52	35	.	.	ENST00000377122.4:c.2669G>T	p.Gly890Val	p.G890V	ENST00000377122	NM_006393.2	890	gGt/gTt	0	1	1	UPI000012FEE8	0	NA	ENST00000377122		ENSG00000078114	16932		87	1.245		HGNC	p.G890V		NEBL		SNV							ENST00000377122	protein_coding	getma.org/?cm=var&var=hg19,10,21097531,C,A&fts=all		hmmpanther:PTHR11039		G/V		A	low	3066/9216		getma.org/?cm=msa&ty=f&p=NEBL_HUMAN&rb=795&re=959&var=G890V	deleterious(0.01)	B0YJ47_HUMAN			YES	NEBL,missense_variant,p.Gly890Val,ENST00000377122,NM_006393.2;NEBL,intron_variant,,ENST00000417816,NM_001173484.1,NM_213569.2;NEBL,intron_variant,,ENST00000377159,;NEBL,downstream_gene_variant,,ENST00000493005,;MTND1P21,downstream_gene_variant,,ENST00000412991,;							MODERATE	2669/3045	G890V	NEBL_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000366326		CCDS7134.1			1	
RAP1GAP2	0	LGGM	GRCh37	17	2901576	2901576	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H060515	H060515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	35	43	.	.	ENST00000254695.8:c.1106del	p.Thr369SerfsTer7	p.T369Sfs*7	ENST00000254695	NM_015085.4	369	aCg/ag	0	1	1	UPI0000D622A3	0		ENST00000254695		ENSG00000132359	29176		78			HGNC	p.T354fs		RAP1GAP2		deletion							ENST00000366401	protein_coding			Superfamily_domains:0043732,Pfam_domain:PF02145,PROSITE_profiles:PS50085,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF17		T/X		-		1196/6661							YES	RAP1GAP2,frameshift_variant,p.Thr369SerfsTer7,ENST00000254695,NM_015085.4;RAP1GAP2,frameshift_variant,p.Thr354SerfsTer7,ENST00000366401,NM_001100398.1;RAP1GAP2,frameshift_variant,p.Thr350SerfsTer7,ENST00000540393,;RAP1GAP2,frameshift_variant,p.Thr369SerfsTer7,ENST00000542807,;RAP1GAP2,non_coding_transcript_exon_variant,,ENST00000574515,;							HIGH	1106/2193		RPGP2_HUMAN			Transcript			.	ENSP00000254695		CCDS45573.1			1	
MDGA2	0	LGGM	GRCh37	14	47687366	47687366	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060515	H060515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	77	52	.	.	ENST00000439988.3:c.453T>G	p.Ser151=	p.S151=	ENST00000439988		151	tcT/tcG	0	1		UPI00001C14FF	0		ENST00000399232		ENSG00000139915	19835		129			HGNC	p.S106S		MDGA2		SNV							ENST00000486952	protein_coding			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		S		C		611/5075				F8WE89_HUMAN				MDGA2,synonymous_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,synonymous_variant,p.=,ENST00000439988,;MDGA2,synonymous_variant,p.=,ENST00000486952,;MDGA2,5_prime_UTR_variant,,ENST00000426342,NM_182830.4;MDGA2,5_prime_UTR_variant,,ENST00000357362,;MDGA2,5_prime_UTR_variant,,ENST00000557238,;MDGA2,5_prime_UTR_variant,,ENST00000482848,;							LOW	246/2871		MDGA2_HUMAN			Transcript			.	ENSP00000382178		CCDS45098.3			1	
IGLV2-8	0	LGGM	GRCh37	22	23165516	23165516	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	122	59	.	.	ENST00000390317.2:c.87G>A	p.Ala29=	p.A29=	ENST00000390317		29	gcG/gcA	0	1	1	UPI0000EE5A42	0		ENST00000390317		ENSG00000211671	5895		181			HGNC	p.A29A	rs368720859	IGLV2-8	6.06E-05	SNV	A:0			0.000102			ENST00000390317	IG_V_gene		A:0.0008	Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF138,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		A	A:0.0001	A		249/520	0.00012			A2MYD6_HUMAN	A:0	A:0	YES	IGLV2-8,synonymous_variant,p.=,ENST00000390317,;IGLV3-9,downstream_gene_variant,,ENST00000390316,;MIR650,downstream_gene_variant,,ENST00000385101,;		A:0.0002					LOW	87/358				A:0	Transcript			.	ENSP00000374852	8.26E-05			A:0	1	
MCOLN3	0	LGGM	GRCh37	1	85498469	85498469	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060515	H060515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	110	63	.	.	ENST00000370589.2:c.642A>T	p.Leu214=	p.L214=	ENST00000370589	NM_018298.10	214	ctA/ctT	0	1	1	UPI0000073A4B	0		ENST00000370589		ENSG00000055732	13358		173			HGNC	p.L214L		MCOLN3		SNV							ENST00000370587	protein_coding			hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF5		L		A		695/2756							YES	MCOLN3,synonymous_variant,p.=,ENST00000370587,;MCOLN3,synonymous_variant,p.=,ENST00000370589,NM_018298.10;MCOLN3,synonymous_variant,p.=,ENST00000341115,NM_001253693.1;WDR63,intron_variant,,ENST00000370596,;MCOLN3,upstream_gene_variant,,ENST00000475312,;MCOLN3,3_prime_UTR_variant,,ENST00000490600,;							LOW	642/1662		MCLN3_HUMAN			Transcript			.	ENSP00000359621		CCDS701.1			1	
RPTN	0	LGGM	GRCh37	1	152128729	152128729	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	481	90	.	.	ENST00000316073.3:c.846C>T	p.Gly282=	p.G282=	ENST00000316073	NM_001122965.1	282	ggC/ggT	0	1	1	UPI00002371E2	0		ENST00000316073		ENSG00000215853	26809		571			HGNC	p.G282G		RPTN		SNV							ENST00000316073	protein_coding			hmmpanther:PTHR22571:SF22,hmmpanther:PTHR22571		G		A		911/3569				Q8N1M7_HUMAN,Q2M1U7_HUMAN			YES	RPTN,synonymous_variant,p.=,ENST00000316073,NM_001122965.1;							LOW	846/2355		RPTN_HUMAN			Transcript			.	ENSP00000317895		CCDS41397.1			1	
MTL5	0	LGGM	GRCh37	11	68512530	68512530	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060515	H060515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060515N.bam, H060515T.bam	Illumina HiSeq	29	104	.	.	ENST00000255087.5:c.680C>G	p.Ser227Cys	p.S227C	ENST00000255087	NM_004923.3	227	tCt/tGt	0	1	1	UPI00001FAE07	0	NA	ENST00000255087		ENSG00000132749	7446		133	0.625		HGNC	p.S227C		MTL5		SNV							ENST00000255087	protein_coding	getma.org/?cm=var&var=hg19,11,68512530,G,C&fts=all		hmmpanther:PTHR12446:SF20,hmmpanther:PTHR12446		S/C		C	neutral	864/2579		getma.org/?cm=msa&ty=f&p=MTL5_HUMAN&rb=1&re=300&var=S227C	tolerated(0.47)				YES	MTL5,missense_variant,p.Ser227Cys,ENST00000443940,;MTL5,missense_variant,p.Ser227Cys,ENST00000255087,NM_004923.3;MTL5,missense_variant,p.Ser227Cys,ENST00000544963,NM_001039656.1;MTL5,intron_variant,,ENST00000540869,;MTL5,downstream_gene_variant,,ENST00000432435,;MTL5,non_coding_transcript_exon_variant,,ENST00000538944,;							MODERATE	680/1527	S227C	MTL5_HUMAN			Transcript		benign(0.004)	.	ENSP00000255087		CCDS8184.1			1	
LLGL2	0	LGGM	GRCh37	17	73568009	73568009	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	10	2	.	.	ENST00000392550.3:c.2324C>T	p.Pro775Leu	p.P775L	ENST00000392550	NM_001031803.1	775	cCg/cTg	0	1	1	UPI00005905A8	0	NA	ENST00000392550		ENSG00000073350	6629		12	2.74		HGNC	p.P775L	rs778958644	LLGL2	6.10E-05	SNV							ENST00000167462	protein_coding	getma.org/?cm=var&var=hg19,17,73568009,C,T&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20		P/L		T	medium	2441/3509		getma.org/?cm=msa&ty=f&p=L2GL2_HUMAN&rb=652&re=851&var=P775L	deleterious(0)	J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN			YES	LLGL2,missense_variant,p.Pro775Leu,ENST00000392550,NM_001031803.1;LLGL2,missense_variant,p.Pro775Leu,ENST00000167462,NM_004524.2;LLGL2,missense_variant,p.Pro775Leu,ENST00000577200,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,non_coding_transcript_exon_variant,,ENST00000579092,;LLGL2,downstream_gene_variant,,ENST00000578719,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;	0.000117						MODERATE	2324/3063	P775L	L2GL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376333	1.65E-05	CCDS32733.1			1	
ZDHHC12	0	LGGM	GRCh37	9	131483511	131483513	+	inframe_deletion	In_Frame_Del	DEL	CCA	CCA	-	novel	by Submitter	H060555	H060555N.bam	CCA	CCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	4	2	.	.	ENST00000372663.4:c.751_753del	p.Trp251del	p.W251del	ENST00000372663	NM_032799.4	251	TGG/-	0	1	1	UPI000013E086	0		ENST00000372663		ENSG00000160446	19159		6			HGNC	p.251_251del		ZDHHC12		deletion							ENST00000372663	protein_coding			hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF33		W/-		-		764-766/1129							YES	ZDHHC12,inframe_deletion,p.Trp265del,ENST00000372667,;ZDHHC12,inframe_deletion,p.Trp251del,ENST00000372663,NM_032799.4;ZDHHC12,inframe_deletion,p.Trp199del,ENST00000372672,;PKN3,downstream_gene_variant,,ENST00000291906,NM_013355.3;ZDHHC12,downstream_gene_variant,,ENST00000406904,;ZDHHC12,downstream_gene_variant,,ENST00000452105,;RP11-545E17.3,upstream_gene_variant,,ENST00000443631,;ZDHHC12,non_coding_transcript_exon_variant,,ENST00000467312,;PKN3,downstream_gene_variant,,ENST00000485301,;PKN3,downstream_gene_variant,,ENST00000483521,;							MODERATE	751-753/804		ZDH12_HUMAN			Transcript			.	ENSP00000361748		CCDS6909.1			1	
NCDN	0	LGGM	GRCh37	1	36026294	36026294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	14	3	.	.	ENST00000373243.2:c.542T>A	p.Leu181Gln	p.L181Q	ENST00000373243	NM_014284.2	181	cTa/cAa	0	1		UPI000007147C	0	NA	ENST00000356090		ENSG00000020129	17597		17	1.845		HGNC	p.L164Q		NCDN		SNV							ENST00000373253	protein_coding	getma.org/?cm=var&var=hg19,1,36026294,T,A&fts=all		hmmpanther:PTHR13109,Pfam_domain:PF05536,Superfamily_domains:SSF48371		L/Q		A	low	669/3433		getma.org/?cm=msa&ty=f&p=NCDN_HUMAN&rb=30&re=637&var=L181Q	deleterious(0)	C9J5H8_HUMAN,B4DJ92_HUMAN				NCDN,missense_variant,p.Leu181Gln,ENST00000373243,NM_014284.2;NCDN,missense_variant,p.Leu164Gln,ENST00000373253,NM_001014841.1;NCDN,missense_variant,p.Leu181Gln,ENST00000356090,NM_001014839.1;NCDN,missense_variant,p.Leu164Gln,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,;							MODERATE	542/2190	L181Q	NCDN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000348394		CCDS392.1			1	
DCC	0	LGGM	GRCh37	18	50866265	50866265	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	14	3	.	.	ENST00000442544.2:c.2347A>G	p.Ile783Val	p.I783V	ENST00000442544	NM_005215.3	783	Att/Gtt	0	1	1	UPI00001AEDC6	0	getma.org/pdb.php?prot=DCC_HUMAN&from=727&to=807&var=I783V	ENST00000442544		ENSG00000187323	2701		17	2.5		HGNC	p.I438V		DCC		SNV			1				ENST00000581580	protein_coding	getma.org/?cm=var&var=hg19,18,50866265,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/V		G	medium	2963/5721		getma.org/?cm=msa&ty=f&p=DCC_HUMAN&rb=727&re=807&var=I783V	deleterious(0)	J3QQJ6_HUMAN			YES	DCC,missense_variant,p.Ile783Val,ENST00000442544,NM_005215.3;DCC,missense_variant,p.Ile438Val,ENST00000581580,;DCC,missense_variant,p.Ile631Val,ENST00000412726,;DCC,missense_variant,p.Ile717Val,ENST00000304775,;							MODERATE	2347/4344	I783V	DCC_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000389140		CCDS11952.1			1	
OR10K2	0	LGGM	GRCh37	1	158389865	158389865	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	33	3	.	.	ENST00000314902.2:c.792C>A	p.Ser264=	p.S264=	ENST00000314902	NM_001004476.1	264	tcC/tcA	0	1	1	UPI0000041BC2	0		ENST00000314902		ENSG00000180708	14826		36			HGNC	p.S264S		OR10K2		SNV							ENST00000314902	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF325,Superfamily_domains:SSF81321		S		T		792/939							YES	OR10K2,synonymous_variant,p.=,ENST00000314902,NM_001004476.1;							LOW	792/939		O10K2_HUMAN			Transcript			.	ENSP00000324251		CCDS30896.1			1	
NELL2	0	LGGM	GRCh37	12	45169851	45169851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	17	3	.	.	ENST00000437801.2:c.995G>A	p.Arg332Gln	p.R332Q	ENST00000437801	NM_001145107.1	332	cGa/cAa	0	1		UPI0000001063	0	NA	ENST00000429094		ENSG00000184613	7751		20	0.935		HGNC	p.R55Q	COSM1705483,COSM3460927,COSM1705482	NELL2		SNV						1,1,1	ENST00000550462	protein_coding	getma.org/?cm=var&var=hg19,12,45169851,C,T&fts=all		PROSITE_profiles:PS50184,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00215,SMART_domains:SM00214,Superfamily_domains:SSF57603		R/Q		T	low	1350/3612		getma.org/?cm=msa&ty=f&p=NELL2_HUMAN&rb=274&re=330&var=R282Q	tolerated(0.11)	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN				NELL2,missense_variant,p.Arg282Gln,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.Arg332Gln,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.Arg281Gln,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.Arg282Gln,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.Arg281Gln,ENST00000551601,;NELL2,missense_variant,p.Arg281Gln,ENST00000549027,;NELL2,missense_variant,p.Arg305Gln,ENST00000333837,NM_001145110.1;NELL2,missense_variant,p.Arg282Gln,ENST00000552993,;NELL2,missense_variant,p.Arg31Gln,ENST00000550313,;NELL2,missense_variant,p.Arg55Gln,ENST00000550462,;NELL2,downstream_gene_variant,,ENST00000553120,;NELL2,downstream_gene_variant,,ENST00000547172,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;					1,1,1		MODERATE	845/2451	R282Q	NELL2_HUMAN			Transcript		benign(0.017)	.	ENSP00000390680		CCDS8746.1			1	
FAM196B	0	LGGM	GRCh37	5	169310778	169310778	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	40	3	.	.	ENST00000377365.3:c.125A>T	p.Asp42Val	p.D42V	ENST00000377365	NM_001129891.1	42	gAt/gTt	0	1	1	UPI0000480500	0	NA	ENST00000377365		ENSG00000204767	37271		43	2.045		HGNC	p.D42V		FAM196B		SNV							ENST00000377365	protein_coding	getma.org/?cm=var&var=hg19,5,169310778,T,A&fts=all		Pfam_domain:PF15265		D/V		A	medium	1507/2999		getma.org/?cm=msa&ty=f&p=F196B_HUMAN&rb=1&re=407&var=D42V	deleterious(0.02)				YES	FAM196B,missense_variant,p.Asp42Val,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;							MODERATE	125/1608	D42V	F196B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366582		CCDS47336.1			1	
PCK2	0	LGGM	GRCh37	14	24567744	24567744	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	16	3	.	.	ENST00000216780.4:c.521T>C	p.Ile174Thr	p.I174T	ENST00000216780	NM_004563.2	174	aTc/aCc	0	1	1	UPI000013C708	0	getma.org/pdb.php?prot=PCKGM_HUMAN&from=46&to=640&var=I174T	ENST00000216780		ENSG00000100889	8725		19	3.475		HGNC	p.I186T		PCK2		SNV			1				ENST00000559250	protein_coding	getma.org/?cm=var&var=hg19,14,24567744,T,C&fts=all		Superfamily_domains:SSF68923,PIRSF_domain:PIRSF001348,Gene3D:3.40.449.10,Pfam_domain:PF00821,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452		I/T		C	medium	789/2357		getma.org/?cm=msa&ty=f&p=PCKGM_HUMAN&rb=46&re=640&var=I174T	deleterious(0.01)	H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN			YES	PCK2,missense_variant,p.Ile40Thr,ENST00000545054,;PCK2,missense_variant,p.Ile40Thr,ENST00000558096,;PCK2,missense_variant,p.Ile174Thr,ENST00000216780,NM_004563.2;PCK2,missense_variant,p.Ile40Thr,ENST00000561286,;PCK2,missense_variant,p.Ile174Thr,ENST00000396973,NM_001018073.1;PCK2,missense_variant,p.Ile186Thr,ENST00000559250,;PCK2,missense_variant,p.Ile40Thr,ENST00000560736,;PCK2,missense_variant,p.Ile40Thr,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,missense_variant,p.Ile9Thr,ENST00000559503,;PCK2,3_prime_UTR_variant,,ENST00000560106,;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,;PCK2,downstream_gene_variant,,ENST00000559584,;PCK2,upstream_gene_variant,,ENST00000557969,;							MODERATE	521/1923	I174T	PCKGM_HUMAN			Transcript		benign(0.387)	.	ENSP00000216780		CCDS9609.1			1	
KIAA0195	0	LGGM	GRCh37	17	73486788	73486788	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	34	3	.	.	ENST00000314256.7:c.1077T>C	p.Ala359=	p.A359=	ENST00000314256	NM_014738.4	359	gcT/gcC	0	1	1	UPI0000139439	0		ENST00000314256		ENSG00000177728	28983		37			HGNC	p.A369A		KIAA0195		SNV							ENST00000375248	protein_coding			hmmpanther:PTHR13219:SF6,hmmpanther:PTHR13219		A		C		1471/5213				J3QS17_HUMAN,J3QRT3_HUMAN,J3QLM7_HUMAN,J3KT63_HUMAN,J3KRU7_HUMAN			YES	KIAA0195,synonymous_variant,p.=,ENST00000314256,NM_014738.4;KIAA0195,synonymous_variant,p.=,ENST00000375248,;KIAA0195,synonymous_variant,p.=,ENST00000579208,;KIAA0195,synonymous_variant,p.=,ENST00000581252,;KIAA0195,upstream_gene_variant,,ENST00000578853,;KIAA0195,upstream_gene_variant,,ENST00000580918,;KIAA0195,downstream_gene_variant,,ENST00000582186,;KIAA0195,downstream_gene_variant,,ENST00000582455,;KIAA0195,downstream_gene_variant,,ENST00000577380,;KIAA0195,downstream_gene_variant,,ENST00000581519,;KIAA0195,downstream_gene_variant,,ENST00000583795,;KIAA0195,downstream_gene_variant,,ENST00000580416,;KIAA0195,3_prime_UTR_variant,,ENST00000580441,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000585105,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000581085,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000579241,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000580849,;KIAA0195,upstream_gene_variant,,ENST00000579898,;KIAA0195,upstream_gene_variant,,ENST00000581867,;KIAA0195,upstream_gene_variant,,ENST00000578624,;KIAA0195,upstream_gene_variant,,ENST00000581723,;KIAA0195,downstream_gene_variant,,ENST00000585277,;KIAA0195,upstream_gene_variant,,ENST00000583071,;KIAA0195,upstream_gene_variant,,ENST00000582843,;KIAA0195,upstream_gene_variant,,ENST00000583296,;KIAA0195,downstream_gene_variant,,ENST00000579707,;KIAA0195,downstream_gene_variant,,ENST00000584383,;							LOW	1077/4071		K0195_HUMAN			Transcript			.	ENSP00000313885		CCDS32732.1			1	
FAF1	0	LGGM	GRCh37	1	51425473	51425473	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	16	3	.	.	ENST00000396153.2:c.11A>T	p.Asn4Ile	p.N4I	ENST00000396153	NM_007051.2	4	aAc/aTc	0	1	1	UPI0000032C67	0	NA	ENST00000396153		ENSG00000185104	3578		19	0.895		HGNC	p.N4I		FAF1		SNV							ENST00000371778	protein_coding	getma.org/?cm=var&var=hg19,1,51425473,T,A&fts=all				N/I		A	low	463/4367		getma.org/?cm=msa&ty=f&p=FAF1_HUMAN&rb=1&re=200&var=N4I	deleterious(0)				YES	FAF1,missense_variant,p.Asn4Ile,ENST00000396153,NM_007051.2;FAF1,missense_variant,p.Asn4Ile,ENST00000371778,;CDKN2C,upstream_gene_variant,,ENST00000262662,;FAF1,upstream_gene_variant,,ENST00000487898,;							MODERATE	Nov-53	N4I	FAF1_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000379457		CCDS554.1			1	
VPS13B	0	LGGM	GRCh37	8	100830689	100830689	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	29	3	.	.	ENST00000358544.2:c.8447C>G	p.Ser2816Ter	p.S2816*	ENST00000358544	NM_017890.4	2816	tCa/tGa	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		32	0		HGNC	p.S2791X		VPS13B		SNV			1				ENST00000357162	protein_coding	getma.org/?cm=var&var=hg19,8,100830689,C,G&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		S/*		G	NA	8558/14094		NA					YES	VPS13B,stop_gained,p.Ser2816Ter,ENST00000358544,NM_017890.4;VPS13B,stop_gained,p.Ser2791Ter,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;							HIGH	8447/12069	S2816*	VP13B_HUMAN			Transcript			.	ENSP00000351346		CCDS6280.1			1	
PRPF40A	0	LGGM	GRCh37	2	153519618	153519618	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	26	3	.	.	ENST00000410080.1:c.2157A>G	p.Lys719=	p.K719=	ENST00000410080	NM_017892.3	719	aaA/aaG	0	1	1	UPI00015743D9	0		ENST00000410080		ENSG00000196504	16463		29			HGNC	p.K719K		PRPF40A		SNV							ENST00000410080	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51676,hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864,Gene3D:1uzcA00,Pfam_domain:PF01846,SMART_domains:SM00441,Superfamily_domains:SSF81698		K		C		2699/8048				Q4ZG51_HUMAN			YES	PRPF40A,synonymous_variant,p.=,ENST00000410080,NM_017892.3;PRPF40A,upstream_gene_variant,,ENST00000471167,;PRPF40A,upstream_gene_variant,,ENST00000471701,;PRPF40A,downstream_gene_variant,,ENST00000472760,;							LOW	2157/2793		PR40A_HUMAN			Transcript			.	ENSP00000386458		CCDS46430.1			1	
KIAA2026	0	LGGM	GRCh37	9	5969377	5969377	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	15	3	.	.	ENST00000399933.3:c.854G>A	p.Trp285Ter	p.W285*	ENST00000399933	NM_001017969.2	285	tGg/tAg	0	1	1	UPI0001533DB0	0	NA	ENST00000399933		ENSG00000183354	23378		18	0		HGNC	p.W285X		KIAA2026		SNV							ENST00000381461	protein_coding	getma.org/?cm=var&var=hg19,9,5969377,C,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095		W/*		T	NA	854/6988		NA					YES	KIAA2026,stop_gained,p.Trp285Ter,ENST00000399933,NM_001017969.2;KIAA2026,stop_gained,p.Trp285Ter,ENST00000381461,;KIAA2026,stop_gained,p.Trp218Ter,ENST00000513355,;KIAA2026,upstream_gene_variant,,ENST00000540714,;							HIGH	854/6312	W285*	K2026_HUMAN			Transcript			.	ENSP00000382815					1	
COL6A3	0	LGGM	GRCh37	2	238243324	238243324	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	20	3	.	.	ENST00000295550.4:c.9174G>T	p.Val3058=	p.V3058=	ENST00000295550	NM_004369.3	3058	gtG/gtT	0	1	1	UPI0000456F39	0		ENST00000295550		ENSG00000163359	2213		23			HGNC	p.V2858V		COL6A3		SNV			1				ENST00000346358	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265		V		A		9627/10749				Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	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,non_coding_transcript_exon_variant,,ENST00000493608,;COL6A3,upstream_gene_variant,,ENST00000473258,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,;							LOW	9174/9534		CO6A3_HUMAN			Transcript			.	ENSP00000295550		CCDS33412.1			1	
TRPC6	0	LGGM	GRCh37	11	101353728	101353728	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	39	3	.	.	ENST00000344327.3:c.1462A>G	p.Thr488Ala	p.T488A	ENST00000344327	NM_004621.5	488	Aca/Gca	0	1	1	UPI00001374BA	0	NA	ENST00000344327		ENSG00000137672	12338		42	1.935		HGNC	p.T488A		TRPC6		SNV			1				ENST00000344327	protein_coding	getma.org/?cm=var&var=hg19,11,101353728,T,C&fts=all		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870		T/A		C	medium	1887/4612		getma.org/?cm=msa&ty=f&p=TRPC6_HUMAN&rb=316&re=495&var=T488A	tolerated(0.1)	B3KNL3_HUMAN			YES	TRPC6,missense_variant,p.Thr488Ala,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Thr488Ala,ENST00000532133,;TRPC6,missense_variant,p.Thr433Ala,ENST00000360497,;TRPC6,missense_variant,p.Thr372Ala,ENST00000348423,;							MODERATE	1462/2796	T488A	TRPC6_HUMAN			Transcript		benign(0.42)	.	ENSP00000340913		CCDS8311.1			1	
MCAM	0	LGGM	GRCh37	11	119181743	119181743	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	24	3	.	.	ENST00000264036.4:c.1645+57C>A		*549*	ENST00000264036	NM_006500.2			0	1	1	UPI000013D4A8	0		ENST00000264036		ENSG00000076706	6934		27			HGNC	p.P517T		MCAM		SNV							ENST00000392814	protein_coding							T		-/3311							YES	MCAM,missense_variant,p.Pro517Thr,ENST00000392814,;MCAM,intron_variant,,ENST00000264036,NM_006500.2;CBL,downstream_gene_variant,,ENST00000264033,NM_005188.3;MCAM,intron_variant,,ENST00000528976,;MCAM,intron_variant,,ENST00000524940,;MCAM,downstream_gene_variant,,ENST00000530144,;MCAM,downstream_gene_variant,,ENST00000529295,;MCAM,downstream_gene_variant,,ENST00000526992,;MCAM,downstream_gene_variant,,ENST00000534522,;MCAM,downstream_gene_variant,,ENST00000525555,;MCAM,downstream_gene_variant,,ENST00000529686,;MCAM,downstream_gene_variant,,ENST00000529257,;MCAM,downstream_gene_variant,,ENST00000530706,;MCAM,downstream_gene_variant,,ENST00000528502,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,non_coding_transcript_exon_variant,,ENST00000528533,;MCAM,downstream_gene_variant,,ENST00000530937,;MCAM,downstream_gene_variant,,ENST00000530006,;MCAM,downstream_gene_variant,,ENST00000526190,;							MODIFIER	-/1941		MUC18_HUMAN			Transcript			.	ENSP00000264036		CCDS31690.1			1	
ZCCHC8	0	LGGM	GRCh37	12	122964779	122964779	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	23	3	.	.	ENST00000336229.4:c.1098C>A	p.Asn366Lys	p.N366K	ENST00000336229	NM_017612.3	366	aaC/aaA	0	1	1	UPI00001E0582	0	NA	ENST00000336229		ENSG00000033030	25265		26	1.95		HGNC	p.N128K		ZCCHC8		SNV							ENST00000536306	protein_coding	getma.org/?cm=var&var=hg19,12,122964779,G,T&fts=all		hmmpanther:PTHR13316,hmmpanther:PTHR13316:SF0		N/K		T	medium	1229/2862		getma.org/?cm=msa&ty=f&p=ZCHC8_HUMAN&rb=336&re=406&var=N366K	deleterious(0.03)	F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN			YES	ZCCHC8,missense_variant,p.Asn128Lys,ENST00000543897,;ZCCHC8,missense_variant,p.Asn128Lys,ENST00000536306,;ZCCHC8,missense_variant,p.Asn366Lys,ENST00000336229,NM_017612.3;ZCCHC8,missense_variant,p.Asn128Lys,ENST00000544054,;ZCCHC8,missense_variant,p.Asn128Lys,ENST00000536663,;ZCCHC8,5_prime_UTR_variant,,ENST00000542892,;ZCCHC8,upstream_gene_variant,,ENST00000538116,;ZCCHC8,downstream_gene_variant,,ENST00000540586,;ZCCHC8,downstream_gene_variant,,ENST00000538493,;ZCCHC8,downstream_gene_variant,,ENST00000546149,;							MODERATE	1098/2124	N366K	ZCHC8_HUMAN			Transcript		benign(0.005)	.	ENSP00000337313					1	
PTPRO	0	LGGM	GRCh37	12	15650302	15650302	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	49	4	.	.	ENST00000281171.4:c.473G>A	p.Trp158Ter	p.W158*	ENST00000281171	NM_030667.2	158	tGg/tAg	0	1	1	UPI000013DC62	0	NA	ENST00000281171		ENSG00000151490	9678		53	0		HGNC	p.W158X		PTPRO		SNV			1				ENST00000281171	protein_coding	getma.org/?cm=var&var=hg19,12,15650302,G,A&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251		W/*		A	NA	803/5301		NA		B4DS16_HUMAN			YES	PTPRO,stop_gained,p.Trp158Ter,ENST00000281171,NM_030667.2;PTPRO,stop_gained,p.Trp158Ter,ENST00000348962,NM_002848.3;PTPRO,stop_gained,p.Trp158Ter,ENST00000543886,;							HIGH	473/3651	W158*	PTPRO_HUMAN			Transcript			.	ENSP00000281171		CCDS8675.1			1	
NAV3	0	LGGM	GRCh37	12	78573390	78573390	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	46	4	.	.	ENST00000536525.2:c.5379G>T	p.Thr1793=	p.T1793=	ENST00000536525	NM_014903.4	1793	acG/acT	0	1		UPI0000E59849	0		ENST00000397909		ENSG00000067798	15998		50			HGNC	p.T1616T		NAV3		SNV							ENST00000266692	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		T		T		5618/9821				F8VZV4_HUMAN				NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000228327,;NAV3,synonymous_variant,p.=,ENST00000266692,;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.4;NAV3,synonymous_variant,p.=,ENST00000552895,;NAV3,synonymous_variant,p.=,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000552300,;NAV3,non_coding_transcript_exon_variant,,ENST00000548948,;							LOW	5445/7158		NAV3_HUMAN			Transcript			.	ENSP00000381007		CCDS66432.1			1	
MAP3K9	0	LGGM	GRCh37	14	71205046	71205046	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	32	4	.	.	ENST00000555993.2:c.1760A>T	p.Glu587Val	p.E587V	ENST00000555993	NM_033141.2	587	gAg/gTg	0	1		UPI0000D62427	0	NA	ENST00000554752		ENSG00000006432	6861		36	1.04		HGNC	p.E587V		MAP3K9		SNV							ENST00000554752	protein_coding	getma.org/?cm=var&var=hg19,14,71205046,T,A&fts=all		PIRSF_domain:PIRSF000556,Low_complexity_(Seg):seg		E/V		A	low	1760/11169		getma.org/?cm=msa&ty=f&p=M3K9_HUMAN&rb=424&re=1102&var=E587V	tolerated(0.15)	Q8NEB1_HUMAN,B4DSG3_HUMAN,B3KRI5_HUMAN				MAP3K9,missense_variant,p.Glu587Val,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.Glu587Val,ENST00000555993,NM_033141.2;MAP3K9,missense_variant,p.Glu587Val,ENST00000381250,;MAP3K9,missense_variant,p.Glu329Val,ENST00000553414,NM_001284232.1;MAP3K9,missense_variant,p.Glu324Val,ENST00000554146,;							MODERATE	1760/3315	E587V	M3K9_HUMAN			Transcript		benign(0.011)	.	ENSP00000451612		CCDS61488.1			1	
CYP8B1	0	LGGM	GRCh37	3	42916950	42916950	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	48	4	.	.	ENST00000316161.4:c.359A>T	p.His120Leu	p.H120L	ENST00000316161	NM_004391.2	120	cAt/cTt	0	1	1	UPI000013FCE2	0	getma.org/pdb.php?prot=CP8B1_HUMAN&from=33&to=493&var=H120L	ENST00000316161		ENSG00000180432	2653		52	1.995		HGNC	p.H120L		CYP8B1		SNV							ENST00000437102	protein_coding	getma.org/?cm=var&var=hg19,3,42916950,T,A&fts=all		Superfamily_domains:SSF48264,PIRSF_domain:PIRSF500627,PIRSF_domain:PIRSF000047,Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF0		H/L		A	medium	684/3950		getma.org/?cm=msa&ty=f&p=CP8B1_HUMAN&rb=33&re=493&var=H120L	tolerated(0.34)				YES	CYP8B1,missense_variant,p.His120Leu,ENST00000316161,NM_004391.2;CYP8B1,missense_variant,p.His120Leu,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,;							MODERATE	359/1506	H120L	CP8B1_HUMAN			Transcript		benign(0.051)	.	ENSP00000318867		CCDS2707.1			1	
KLHL7	0	LGGM	GRCh37	7	23183523	23183523	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	35	4	.	.	ENST00000339077.5:c.672A>G	p.Pro224=	p.P224=	ENST00000339077	NM_001031710.2	224	ccA/ccG	0	1	1	UPI0000037B12	0		ENST00000339077		ENSG00000122550	15646		39			HGNC	p.P224P		KLHL7		SNV			1				ENST00000339077	protein_coding			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF151,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037		P		G		915/5620				E5RFN1_HUMAN,B7Z4N7_HUMAN,B7Z3P9_HUMAN			YES	KLHL7,synonymous_variant,p.=,ENST00000339077,NM_001031710.2;KLHL7,synonymous_variant,p.=,ENST00000322231,;KLHL7,synonymous_variant,p.=,ENST00000409689,NM_018846.4;KLHL7,synonymous_variant,p.=,ENST00000545443,;KLHL7,synonymous_variant,p.=,ENST00000539124,;KLHL7,5_prime_UTR_variant,,ENST00000542558,;KLHL7,upstream_gene_variant,,ENST00000414163,;KLHL7,downstream_gene_variant,,ENST00000479288,;KLHL7,downstream_gene_variant,,ENST00000459661,;KLHL7,3_prime_UTR_variant,,ENST00000521082,;							LOW	672/1761		KLHL7_HUMAN			Transcript			.	ENSP00000343273		CCDS34609.1			1	
TG	0	LGGM	GRCh37	8	133973289	133973289	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	39	4	.	.	ENST00000220616.4:c.5438C>T	p.Thr1813Ile	p.T1813I	ENST00000220616	NM_003235.4	1813	aCc/aTc	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		43	0.99		HGNC	p.T1813I	rs761925611	TG		SNV			1				ENST00000220616	protein_coding	getma.org/?cm=var&var=hg19,8,133973289,C,T&fts=all		PIRSF_domain:PIRSF001831		T/I		T	low	5478/8450	1.50E-05	getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=1566&re=2178&var=T1813I	tolerated(0.52)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Thr1813Ile,ENST00000220616,NM_003235.4;TG,missense_variant,p.Thr1756Ile,ENST00000377869,;TG,missense_variant,p.Thr183Ile,ENST00000542445,;TG,missense_variant,p.Thr269Ile,ENST00000519178,;TG,upstream_gene_variant,,ENST00000519543,;TG,upstream_gene_variant,,ENST00000518058,;TG,3_prime_UTR_variant,,ENST00000523756,;							MODERATE	5438/8307	T1813I	THYG_HUMAN			Transcript		benign(0.002)	.	ENSP00000220616	8.24E-06	CCDS34944.1			1	
ACE	0	LGGM	GRCh37	17	61559931	61559931	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	29	4	.	.	ENST00000290866.4:c.1223T>A	p.Leu408Gln	p.L408Q	ENST00000290866	NM_000789.3	408	cTg/cAg	0	1	1	UPI000002B8AD	0	getma.org/pdb.php?prot=ACE_HUMAN&from=31&to=630&var=L408Q	ENST00000290866		ENSG00000159640	2707		33	2.805		HGNC	p.L408Q		ACE		SNV			1				ENST00000428043	protein_coding	getma.org/?cm=var&var=hg19,17,61559931,T,A&fts=all		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486		L/Q		A	medium	1247/4199		getma.org/?cm=msa&ty=f&p=ACE_HUMAN&rb=31&re=630&var=L408Q	deleterious(0)	Q3KRI5_HUMAN,D3DU13_HUMAN			YES	ACE,missense_variant,p.Leu408Gln,ENST00000290866,NM_000789.3;ACE,missense_variant,p.Leu408Gln,ENST00000428043,;ACE,missense_variant,p.Leu408Gln,ENST00000538928,;ACE,upstream_gene_variant,,ENST00000490216,;ACE,upstream_gene_variant,,ENST00000290863,NM_152830.2;ACE,upstream_gene_variant,,ENST00000413513,NM_001178057.1;ACE,upstream_gene_variant,,ENST00000421982,;ACE,downstream_gene_variant,,ENST00000582627,;ACE,upstream_gene_variant,,ENST00000582761,;ACE,non_coding_transcript_exon_variant,,ENST00000584529,;ACE,downstream_gene_variant,,ENST00000583336,;ACE,3_prime_UTR_variant,,ENST00000582678,;ACE,upstream_gene_variant,,ENST00000577647,;ACE,upstream_gene_variant,,ENST00000579314,;ACE,upstream_gene_variant,,ENST00000578839,;ACE,upstream_gene_variant,,ENST00000584865,;ACE,upstream_gene_variant,,ENST00000582005,;ACE,downstream_gene_variant,,ENST00000580318,;ACE,upstream_gene_variant,,ENST00000579726,;ACE,downstream_gene_variant,,ENST00000579462,;ACE,upstream_gene_variant,,ENST00000579204,;							MODERATE	1223/3921	L408Q	ACE_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000290866		CCDS11637.1			1	
UBFD1	0	LGGM	GRCh37	16	23569494	23569494	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	27	4	.	.	ENST00000395878.3:c.249G>T	p.Arg83Ser	p.R83S	ENST00000395878	NM_019116.2	83	agG/agT	0	1	1	UPI00001FF0A3	0	NA	ENST00000395878		ENSG00000103353	30565		31	0.345		HGNC	p.R83S		UBFD1		SNV							ENST00000567264	protein_coding	getma.org/?cm=var&var=hg19,16,23569494,G,T&fts=all		Gene3D:3.10.20.90,hmmpanther:PTHR16470,Superfamily_domains:SSF54236		R/S		T	neutral	630/5110		getma.org/?cm=msa&ty=f&p=UBFD1_HUMAN&rb=1&re=88&var=R83S	tolerated(0.12)	H3BRL3_HUMAN,B3KW52_HUMAN			YES	UBFD1,missense_variant,p.Arg83Ser,ENST00000395878,NM_019116.2;UBFD1,missense_variant,p.Arg74Ser,ENST00000567212,;UBFD1,missense_variant,p.Arg307Ser,ENST00000219638,;UBFD1,missense_variant,p.Arg83Ser,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,;EARS2,upstream_gene_variant,,ENST00000561859,;UBFD1,non_coding_transcript_exon_variant,,ENST00000566669,;UBFD1,upstream_gene_variant,,ENST00000569919,;UBFD1,upstream_gene_variant,,ENST00000565634,;EARS2,upstream_gene_variant,,ENST00000564668,;EARS2,upstream_gene_variant,,ENST00000564997,;EARS2,upstream_gene_variant,,ENST00000562799,;EARS2,upstream_gene_variant,,ENST00000563499,;EARS2,upstream_gene_variant,,ENST00000562581,;							MODERATE	249/930	R83S	UBFD1_HUMAN			Transcript		benign(0.001)	.	ENSP00000379217		CCDS10613.2			1	
TRIM21	0	LGGM	GRCh37	11	4411244	4411244	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	33	4	.	.	ENST00000254436.7:c.396A>G	p.Ala132=	p.A132=	ENST00000254436	NM_003141.3	132	gcA/gcG	0	1	1	UPI000013450B	0		ENST00000254436		ENSG00000132109	11312		37			HGNC	p.A132A		TRIM21		SNV							ENST00000254436	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF46,hmmpanther:PTHR24103,Superfamily_domains:SSF57845,Prints_domain:PR01406		A		C		509/1924							YES	TRIM21,synonymous_variant,p.=,ENST00000254436,NM_003141.3;TRIM21,synonymous_variant,p.=,ENST00000543625,;TRIM21,upstream_gene_variant,,ENST00000533692,;							LOW	396/1428		RO52_HUMAN			Transcript			.	ENSP00000254436		CCDS44525.1			1	
TANC2	0	LGGM	GRCh37	17	61432692	61432692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	62	4	.	.	ENST00000424789.2:c.2301T>A	p.Phe767Leu	p.F767L	ENST00000424789	NM_025185.3	767	ttT/ttA	0	1	1	UPI00015D57DF	0	NA	ENST00000424789		ENSG00000170921	30212		66	1.5		HGNC	p.F767L		TANC2		SNV							ENST00000424789	protein_coding	getma.org/?cm=var&var=hg19,17,61432692,T,A&fts=all		hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166		F/L		A	low	2305/11721		getma.org/?cm=msa&ty=f&p=TANC2_HUMAN&rb=53&re=818&var=F767L	tolerated(0.05)				YES	TANC2,missense_variant,p.Phe767Leu,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Phe696Leu,ENST00000583356,;TANC2,missense_variant,p.Phe767Leu,ENST00000389520,;TANC2,non_coding_transcript_exon_variant,,ENST00000583545,;							MODERATE	2301/5973	F767L	TANC2_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000387593		CCDS45754.1			1	
EXTL3	0	LGGM	GRCh37	8	28575512	28575512	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	39	4	.	.	ENST00000220562.4:c.1936T>C	p.Ser646Pro	p.S646P	ENST00000220562	NM_001440.3	646	Tct/Cct	0	1	1	UPI000012A35D	0	NA	ENST00000220562		ENSG00000012232	3518		43	1.59		HGNC	p.S646P		EXTL3		SNV							ENST00000220562	protein_coding	getma.org/?cm=var&var=hg19,8,28575512,T,C&fts=all		hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57		S/P		C	low	2838/6483		getma.org/?cm=msa&ty=f&p=EXTL3_HUMAN&rb=501&re=662&var=S646P	deleterious(0.05)	E5RIV6_HUMAN,B4DG91_HUMAN			YES	EXTL3,missense_variant,p.Ser646Pro,ENST00000220562,NM_001440.3;EXTL3,missense_variant,p.Ser262Pro,ENST00000523149,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,intron_variant,,ENST00000522698,;							MODERATE	1936/2760	S646P	EXTL3_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000220562		CCDS6070.1			1	
VCX	0	LGGM	GRCh37	X	7811821	7811822	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H060555	H060555N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	8	7	.	.	ENST00000381059.3:c.385_386insG	p.Gln129ArgfsTer?	p.Q129Rfs*?	ENST00000381059	NM_013452.2	129	cag/cGag	0	1	1	UPI0000138291	0		ENST00000381059		ENSG00000182583	12667		15			HGNC	p.Q129fs		VCX		insertion							ENST00000381059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231,Pfam_domain:PF15231		Q/RX		G		604-605/967							YES	VCX,frameshift_variant,p.Gln129ArgfsTer?,ENST00000381059,NM_013452.2;VCX,intron_variant,,ENST00000341408,;							HIGH	385-386/621		VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
VCX	0	LGGM	GRCh37	X	7811818	7811818	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	8	7	.	.	ENST00000381059.3:c.382del	p.Ser128AlafsTer7	p.S128Afs*7	ENST00000381059	NM_013452.2	128	Agc/gc	0	1	1	UPI0000138291	0		ENST00000381059		ENSG00000182583	12667		15			HGNC	p.S128fs	TMP_ESP_X_7811818_7811818	VCX		deletion	-:0.1915						ENST00000381059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231,Pfam_domain:PF15231		S/X	-:0.1053	-		601/967							YES	VCX,frameshift_variant,p.Ser128AlafsTer7,ENST00000381059,NM_013452.2;VCX,intron_variant,,ENST00000341408,;							HIGH	382/621		VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
GLI3	0	LGGM	GRCh37	7	42004758	42004758	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	26	5	.	.	ENST00000395925.3:c.3913G>T	p.Ala1305Ser	p.A1305S	ENST00000395925	NM_000168.5	1305	Gct/Tct	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		31	0.345		HGNC	p.A1305S		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42004758,C,A&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		A/S		A	neutral	3998/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=1091&re=1578&var=A1305S	tolerated_low_confidence(0.46)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Ala1305Ser,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							MODERATE	3913/4743	A1305S	GLI3_HUMAN			Transcript		benign(0.004)	.	ENSP00000379258		CCDS5465.1			1	
NLRP12	0	LGGM	GRCh37	19	54314311	54314311	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	36	5	.	.	ENST00000324134.6:c.602A>T	p.Glu201Val	p.E201V	ENST00000324134	NM_144687.3	201	gAg/gTg	0	1	1	UPI00001412CE	0	NA	ENST00000324134		ENSG00000142405	22938		41	2.36		HGNC	p.E201V		NLRP12		SNV			1				ENST00000345770	protein_coding	getma.org/?cm=var&var=hg19,19,54314311,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Pfam_domain:PF14484		E/V		A	medium	771/3801		getma.org/?cm=msa&ty=f&p=NAL12_HUMAN&rb=92&re=210&var=E201V	deleterious(0)				YES	NLRP12,missense_variant,p.Glu201Val,ENST00000324134,NM_144687.3,NM_001277126.1;NLRP12,missense_variant,p.Glu201Val,ENST00000391773,;NLRP12,missense_variant,p.Glu201Val,ENST00000535162,;NLRP12,missense_variant,p.Glu201Val,ENST00000345770,;NLRP12,missense_variant,p.Glu201Val,ENST00000351894,;NLRP12,missense_variant,p.Glu201Val,ENST00000391775,NM_001277129.1;NLRP12,missense_variant,p.Glu201Val,ENST00000354278,;NLRP12,missense_variant,p.Glu201Val,ENST00000391772,;NLRP12,upstream_gene_variant,,ENST00000492915,;							MODERATE	602/3186	E201V	NAL12_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000319377		CCDS12864.1			1	
DNAJB8	0	LGGM	GRCh37	3	128181484	128181484	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	39	5	.	.	ENST00000469083.1:c.605A>C	p.Asn202Thr	p.N202T	ENST00000469083		202	aAc/aCc	0	1		UPI0000129437	0	NA	ENST00000319153		ENSG00000179407	23699		44	3.16		HGNC	p.N202T		DNAJB8		SNV							ENST00000469083	protein_coding	getma.org/?cm=var&var=hg19,3,128181484,T,G&fts=all		hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF242		N/T		G	medium	2266/2465		getma.org/?cm=msa&ty=f&p=DNJB8_HUMAN&rb=67&re=232&var=N202T	deleterious(0)					DNAJB8,missense_variant,p.Asn202Thr,ENST00000469083,;DNAJB8,missense_variant,p.Asn202Thr,ENST00000319153,NM_153330.3;DNAJB8-AS1,upstream_gene_variant,,ENST00000471626,;							MODERATE	605/699	N202T	DNJB8_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000316053		CCDS3048.1			1	
TUBA3C	0	LGGM	GRCh37	13	19751745	19751745	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	27	5	.	.	ENST00000400113.3:c.378G>A	p.Ala126=	p.A126=	ENST00000400113	NM_006001.2	126	gcG/gcA	0	1	1	UPI0000027DB1	0		ENST00000400113		ENSG00000198033	12408		32			HGNC	p.A126A	rs750387910	TUBA3C	0.0002	SNV							ENST00000400113	protein_coding			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		A		T		483/1551				Q1ZYQ1_HUMAN,F8VXZ7_HUMAN			YES	TUBA3C,splice_region_variant,p.=,ENST00000400113,NM_006001.2;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;							LOW	378/1353		TBA3C_HUMAN			Transcript			.	ENSP00000382982	2.47E-05	CCDS9284.1			1	
CNTN4	0	LGGM	GRCh37	3	2861191	2861191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	18	5	.	.	ENST00000397461.1:c.380G>A	p.Arg127Lys	p.R127K	ENST00000397461	NM_001206955.1	127	aGa/aAa	0	1	1	UPI000007446C	0	getma.org/pdb.php?prot=CNTN4_HUMAN&from=123&to=205&var=R127K	ENST00000397461		ENSG00000144619	2174		23	-0.87		HGNC	p.R127K		CNTN4		SNV			1				ENST00000418658	protein_coding	getma.org/?cm=var&var=hg19,3,2861191,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,Low_complexity_(Seg):seg,Superfamily_domains:SSF48726		R/K		A	neutral	764/5198		getma.org/?cm=msa&ty=f&p=CNTN4_HUMAN&rb=123&re=205&var=R127K	tolerated(1)	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN			YES	CNTN4,missense_variant,p.Arg127Lys,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Arg127Lys,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Arg127Lys,ENST00000427331,;CNTN4,missense_variant,p.Arg127Lys,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,;							MODERATE	380/3081	R127K	CNTN4_HUMAN			Transcript		benign(0.002)	.	ENSP00000380602		CCDS43041.1			1	
DHRS7	0	LGGM	GRCh37	14	60622736	60622736	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	30	5	.	.	ENST00000216500.5:c.268G>T	p.Val90Leu	p.V90L	ENST00000216500		90	Gtg/Ttg	0	1	1	UPI000004C78C	0	getma.org/pdb.php?prot=DHRS7_HUMAN&from=51&to=222&var=V90L	ENST00000216500		ENSG00000100612	21524		35	-0.235		HGNC	p.V40L		DHRS7		SNV							ENST00000536410	protein_coding	getma.org/?cm=var&var=hg19,14,60622736,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF00106,PIRSF_domain:PIRSF000126,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF31,Superfamily_domains:SSF51735		V/L		A	neutral	724/2322		getma.org/?cm=msa&ty=f&p=DHRS7_HUMAN&rb=51&re=222&var=V90L	deleterious(0.01)	G3V5J0_HUMAN			YES	DHRS7,missense_variant,p.Val90Leu,ENST00000216500,;DHRS7,missense_variant,p.Val90Leu,ENST00000557185,NM_016029.2;DHRS7,missense_variant,p.Val85Leu,ENST00000554101,;DHRS7,missense_variant,p.Val40Leu,ENST00000536410,;DHRS7,missense_variant,p.Val90Leu,ENST00000557137,;PCNXL4,intron_variant,,ENST00000406949,;DHRS7,upstream_gene_variant,,ENST00000557751,;DHRS7,downstream_gene_variant,,ENST00000557326,;PCNXL4,intron_variant,,ENST00000553898,;DHRS7,upstream_gene_variant,,ENST00000553986,;DHRS7,non_coding_transcript_exon_variant,,ENST00000556502,;DHRS7,non_coding_transcript_exon_variant,,ENST00000555171,;SCOCP1,upstream_gene_variant,,ENST00000554676,;							MODERATE	268/1020	V90L	DHRS7_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000216500		CCDS9743.1			1	
PDAP1	0	LGGM	GRCh37	7	98995511	98995511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	34	5	.	.	ENST00000350498.3:c.461C>T	p.Ala154Val	p.A154V	ENST00000350498	NM_014891.6	154	gCc/gTc	0	1	1	UPI000012CB07	0	NA	ENST00000350498		ENSG00000106244	14634		39	3.405		HGNC	p.A154V		PDAP1		SNV							ENST00000350498	protein_coding	getma.org/?cm=var&var=hg19,7,98995511,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10252,hmmpanther:PTHR22055,Low_complexity_(Seg):seg		A/V		A	medium	742/2546		getma.org/?cm=msa&ty=f&p=HAP28_HUMAN&rb=84&re=164&var=A154V	deleterious(0)				YES	PDAP1,missense_variant,p.Ala154Val,ENST00000350498,NM_014891.6;ARPC1B,downstream_gene_variant,,ENST00000451682,;ARPC1B,downstream_gene_variant,,ENST00000252725,NM_005720.3;PDAP1,non_coding_transcript_exon_variant,,ENST00000496335,;ARPC1B,downstream_gene_variant,,ENST00000463078,;PDAP1,3_prime_UTR_variant,,ENST00000426447,;ARPC1B,downstream_gene_variant,,ENST00000491294,;ARPC1B,downstream_gene_variant,,ENST00000481997,;							MODERATE	461/546	A154V	HAP28_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000222968		CCDS5662.1			1	
EGLN3	0	LGGM	GRCh37	14	34419933	34419933	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	28	5	.	.	ENST00000250457.3:c.26T>A	p.Leu9Gln	p.L9Q	ENST00000250457	NM_022073.3	9	cTg/cAg	0	1	1	UPI000004F8A8	0	getma.org/pdb.php?prot=EGLN3_HUMAN&from=1&to=119&var=L9Q	ENST00000250457		ENSG00000129521	14661		33	1.845		HGNC	p.L9Q		EGLN3		SNV							ENST00000553215	protein_coding	getma.org/?cm=var&var=hg19,14,34419933,A,T&fts=all		hmmpanther:PTHR12907:SF5,hmmpanther:PTHR12907		L/Q		T	low	355/2709		getma.org/?cm=msa&ty=f&p=EGLN3_HUMAN&rb=1&re=119&var=L9Q	tolerated(0.42)	Q3T1B0_HUMAN,A6XP73_HUMAN			YES	EGLN3,missense_variant,p.Leu9Gln,ENST00000547327,;EGLN3,missense_variant,p.Leu9Gln,ENST00000250457,NM_022073.3;EGLN3,missense_variant,p.Leu9Gln,ENST00000553215,;EGLN3,intron_variant,,ENST00000487915,;							MODERATE	26/720	L9Q	EGLN3_HUMAN			Transcript		benign(0.001)	.	ENSP00000250457		CCDS9646.1			1	
PRPF40A	0	LGGM	GRCh37	2	153533010	153533010	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	45	5	.	.	ENST00000410080.1:c.940C>A	p.Gln314Lys	p.Q314K	ENST00000410080	NM_017892.3	314	Caa/Aaa	0	1	1	UPI00015743D9	0	NA	ENST00000410080		ENSG00000196504	16463		50	0.55		HGNC	p.Q314K		PRPF40A		SNV							ENST00000410080	protein_coding	getma.org/?cm=var&var=hg19,2,153533010,G,T&fts=all		hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864		Q/K		T	neutral	1482/8048		getma.org/?cm=msa&ty=f&p=PR40A_HUMAN&rb=213&re=394&var=Q341K	tolerated(0.57)	Q4ZG51_HUMAN			YES	PRPF40A,missense_variant,p.Gln314Lys,ENST00000410080,NM_017892.3;PRPF40A,missense_variant,p.Gln341Lys,ENST00000545856,;PRPF40A,missense_variant,p.Gln316Lys,ENST00000493468,;PRPF40A,downstream_gene_variant,,ENST00000448428,;PRPF40A,3_prime_UTR_variant,,ENST00000354363,;PRPF40A,downstream_gene_variant,,ENST00000467114,;							MODERATE	940/2793	Q341K	PR40A_HUMAN			Transcript		benign(0.184)	.	ENSP00000386458		CCDS46430.1			1	
TRIM71	0	LGGM	GRCh37	3	32932059	32932059	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	51	5	.	.	ENST00000383763.5:c.1363G>T	p.Glu455Ter	p.E455*	ENST00000383763	NM_001039111.1	455	Gaa/Taa	0	1	1	UPI000067CB89	0	NA	ENST00000383763		ENSG00000206557	32669		56	0		HGNC	p.E455X		TRIM71		SNV							ENST00000383763	protein_coding	getma.org/?cm=var&var=hg19,3,32932059,G,T&fts=all		hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103		E/*		T	NA	1426/8685		NA					YES	TRIM71,stop_gained,p.Glu455Ter,ENST00000383763,NM_001039111.1;							HIGH	1363/2607	E455*	LIN41_HUMAN			Transcript			.	ENSP00000373272		CCDS43060.1			1	
SCAF8	0	LGGM	GRCh37	6	155154181	155154181	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	39	5	.	.	ENST00000367178.3:c.3468G>A	p.Trp1156Ter	p.W1156*	ENST00000367178	NM_014892.3	1156	tgG/tgA	0	1	1	UPI0000070A1C	0	NA	ENST00000367178		ENSG00000213079	20959		44	0		HGNC	p.W1222X		SCAF8		SNV							ENST00000367186	protein_coding	getma.org/?cm=var&var=hg19,6,155154181,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124		W/*		A	NA	4044/5055		NA		Q9H8B2_HUMAN,Q8NDE9_HUMAN			YES	SCAF8,stop_gained,p.Trp1156Ter,ENST00000367178,NM_014892.3,NM_001286194.1;SCAF8,stop_gained,p.Trp1156Ter,ENST00000417268,NM_001286188.1,NM_001286199.1;SCAF8,stop_gained,p.Trp1222Ter,ENST00000367186,NM_001286189.1;TIAM2,5_prime_UTR_variant,,ENST00000461783,;TIAM2,upstream_gene_variant,,ENST00000460692,;TIAM2,upstream_gene_variant,,ENST00000535064,;							HIGH	3468/3816	W1156*	SCAF8_HUMAN			Transcript			.	ENSP00000356146		CCDS5247.1			1	
MAP4K3	0	LGGM	GRCh37	2	39553415	39553415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	76	6	.	.	ENST00000263881.3:c.534G>A	p.Met178Ile	p.M178I	ENST00000263881	NM_003618.3	178	atG/atA	0	1	1	UPI00000747E6	0	getma.org/pdb.php?prot=M4K3_HUMAN&from=16&to=273&var=M178I	ENST00000263881		ENSG00000011566	6865		82	2.42		HGNC	p.W105X		MAP4K3		SNV							ENST00000429397	protein_coding	getma.org/?cm=var&var=hg19,2,39553415,C,T&fts=all		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		M/I		T	medium	859/4362		getma.org/?cm=msa&ty=f&p=M4K3_HUMAN&rb=16&re=273&var=M178I	deleterious(0)	Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN			YES	MAP4K3,missense_variant,p.Met178Ile,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Met178Ile,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Met115Ile,ENST00000437545,;MAP4K3,upstream_gene_variant,,ENST00000536018,;RP11-449G16.1,upstream_gene_variant,,ENST00000609671,;MAP4K3,stop_gained,p.Trp105Ter,ENST00000429397,;MAP4K3,upstream_gene_variant,,ENST00000414968,;							MODERATE	534/2685	M178I	M4K3_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000263881		CCDS1803.1			1	
PROX1	0	LGGM	GRCh37	1	214170383	214170383	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	43	6	.	.	ENST00000366958.4:c.505G>C	p.Val169Leu	p.V169L	ENST00000366958	NM_001270616.1	169	Gtt/Ctt	0	1		UPI0000071D14	0	NA	ENST00000261454		ENSG00000117707	9459		49	2.305		HGNC	p.V169L		PROX1		SNV							ENST00000366958	protein_coding	getma.org/?cm=var&var=hg19,1,214170383,G,C&fts=all		hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198		V/L		C	medium	505/2797		getma.org/?cm=msa&ty=f&p=PROX1_HUMAN&rb=36&re=313&var=V169L	deleterious(0)	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN				PROX1,missense_variant,p.Val169Leu,ENST00000366958,NM_001270616.1;PROX1,missense_variant,p.Val169Leu,ENST00000498508,;PROX1,missense_variant,p.Val169Leu,ENST00000435016,NM_002763.4;PROX1,missense_variant,p.Val169Leu,ENST00000261454,;PROX1,missense_variant,p.Val169Leu,ENST00000471129,;PROX1,downstream_gene_variant,,ENST00000607425,;							MODERATE	505/2214	V169L	PROX1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261454		CCDS31021.1			1	
ETAA1	0	LGGM	GRCh37	2	67630836	67630836	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	31	6	.	.	ENST00000272342.5:c.1022G>A	p.Arg341Gln	p.R341Q	ENST00000272342	NM_019002.3	341	cGa/cAa	0	1	1	UPI00001414BC	0	NA	ENST00000272342		ENSG00000143971	24648		37	1.1		HGNC	p.R341Q	rs547474628	ETAA1	0.000182	SNV							ENST00000272342	protein_coding	getma.org/?cm=var&var=hg19,2,67630836,G,A&fts=all	A:0	hmmpanther:PTHR16434:SF1,hmmpanther:PTHR16434,Pfam_domain:PF15350		R/Q		A	low	1152/3418	7.51E-05	getma.org/?cm=msa&ty=f&p=ETAA1_HUMAN&rb=1&re=409&var=R341Q	tolerated(0.59)		A:0	A:0	YES	ETAA1,missense_variant,p.Arg341Gln,ENST00000272342,NM_019002.3;ETAA1,intron_variant,,ENST00000462772,;		A:0.0002					MODERATE	1022/2781	R341Q	ETAA1_HUMAN		A:0	Transcript		benign(0.114)	.	ENSP00000272342	6.59E-05	CCDS1882.1		A:0.001	1	
SLC35F2	0	LGGM	GRCh37	11	107677601	107677601	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	61	6	.	.	ENST00000525815.1:c.416T>A	p.Leu139His	p.L139H	ENST00000525815	NM_017515.4	139	cTt/cAt	0	1	1	UPI0000074335	0	NA	ENST00000525815		ENSG00000110660	23615		67	3.415		HGNC	p.L92H		SLC35F2		SNV							ENST00000375682	protein_coding	getma.org/?cm=var&var=hg19,11,107677601,A,T&fts=all		Superfamily_domains:0043518,Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Transmembrane_helices:TMhelix		L/H		T	medium	837/3170		getma.org/?cm=msa&ty=f&p=S35F2_HUMAN&rb=28&re=364&var=L139H	deleterious(0)	E9PKZ2_HUMAN,B4DUB9_HUMAN			YES	SLC35F2,missense_variant,p.Leu139His,ENST00000525071,;SLC35F2,missense_variant,p.Leu139His,ENST00000525815,NM_017515.4;SLC35F2,missense_variant,p.Leu139His,ENST00000429869,;SLC35F2,missense_variant,p.Leu92His,ENST00000375682,;SLC35F2,splice_region_variant,,ENST00000265836,;SLC35F2,missense_variant,p.Leu139His,ENST00000532513,;SLC35F2,splice_region_variant,,ENST00000533664,;SLC35F2,splice_region_variant,,ENST00000524991,;							MODERATE	416/1125	L139H	S35F2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000436785		CCDS41709.1			1	
OR9G1	0	LGGM	GRCh37	11	56468239	56468239	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	53	6	.	.	ENST00000312153.1:c.376T>C	p.Ser126Pro	p.S126P	ENST00000312153	NM_001005213.1	126	Tcc/Ccc	0	1	1	UPI0000061E7E	0	getma.org/pdb.php?prot=OR9G1_HUMAN&from=1&to=137&var=S126P	ENST00000312153		ENSG00000174914	15319		59	2.285		HGNC	p.S126P		OR9G1		SNV							ENST00000312153	protein_coding	getma.org/?cm=var&var=hg19,11,56468239,T,C&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF158,Superfamily_domains:SSF81321		S/P		C	medium	376/918		getma.org/?cm=msa&ty=f&p=OR9G1_HUMAN&rb=1&re=137&var=S126P	deleterious(0)				YES	OR9G1,missense_variant,p.Ser126Pro,ENST00000312153,NM_001005213.1;							MODERATE	376/918	S126P	OR9G1_HUMAN			Transcript		possibly_damaging(0.714)	.	ENSP00000309012		CCDS31536.1			1	
COL11A1	0	LGGM	GRCh37	1	103474040	103474040	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	42	6	.	.	ENST00000370096.3:c.1662G>T	p.Glu554Asp	p.E554D	ENST00000370096	NM_001854.3	554	gaG/gaT	0	1	1	UPI00002053EF	0	NA	ENST00000370096		ENSG00000060718	2186		48	1.405		HGNC	p.E554D		COL11A1		SNV			1				ENST00000370096	protein_coding	getma.org/?cm=var&var=hg19,1,103474040,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg		E/D		A	low	1975/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=527&re=589&var=E554D		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Glu566Asp,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Glu554Asp,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Glu515Asp,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Glu438Asp,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Glu566Asp,ENST00000427239,;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;							MODERATE	1662/5421	E554D	COBA1_HUMAN			Transcript		unknown(0)	.	ENSP00000359114		CCDS778.1			1	
CRIM1	0	LGGM	GRCh37	2	36706741	36706741	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	25	6	.	.	ENST00000280527.2:c.1276T>C	p.Cys426Arg	p.C426R	ENST00000280527	NM_016441.2	426	Tgc/Cgc	0	1	1	UPI000004C628	0	NA	ENST00000280527		ENSG00000150938	2359		31	4.15		HGNC	p.C426R		CRIM1		SNV							ENST00000280527	protein_coding	getma.org/?cm=var&var=hg19,2,36706741,T,C&fts=all		PROSITE_profiles:PS50184,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,Pfam_domain:PF00093,Gene3D:2.10.70.10,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603		C/R		C	high	1643/5912		getma.org/?cm=msa&ty=f&p=CRIM1_HUMAN&rb=403&re=456&var=C426R	deleterious(0)	Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN			YES	CRIM1,missense_variant,p.Cys426Arg,ENST00000280527,NM_016441.2;CRIM1,non_coding_transcript_exon_variant,,ENST00000481321,;							MODERATE	1276/3111	C426R	CRIM1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000280527		CCDS1783.1			1	
NEK11	0	LGGM	GRCh37	3	130992401	130992401	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	21	6	.	.	ENST00000383366.4:c.1701G>C	p.Lys567Asn	p.K567N	ENST00000383366	NM_024800.4	567	aaG/aaC	0	1	1	UPI000013F25D	0	NA	ENST00000383366		ENSG00000114670	18593		27	1.67		HGNC	p.K567N		NEK11		SNV							ENST00000383366	protein_coding	getma.org/?cm=var&var=hg19,3,130992401,G,C&fts=all		hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362		K/N		C	low	1994/2914		getma.org/?cm=msa&ty=f&p=NEK11_HUMAN&rb=488&re=645&var=K567N	deleterious(0)				YES	NEK11,missense_variant,p.Lys567Asn,ENST00000383366,NM_024800.4;NEK11,missense_variant,p.Lys567Asn,ENST00000429253,;NEK11,missense_variant,p.Lys383Asn,ENST00000412440,;NEK11,missense_variant,p.Lys462Asn,ENST00000510769,;NEK11,missense_variant,p.Lys567Asn,ENST00000508196,;NEK11,intron_variant,,ENST00000510688,NM_001146003.1;NEK11,3_prime_UTR_variant,,ENST00000514915,;NEK11,3_prime_UTR_variant,,ENST00000510474,;							MODERATE	1701/1938	K567N	NEK11_HUMAN			Transcript		possibly_damaging(0.807)	.	ENSP00000372857		CCDS3069.1			1	
GCNT2	0	LGGM	GRCh37	6	10556911	10556911	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	44	6	.	.	ENST00000379597.3:c.925+26842T>G		*309*	ENST00000379597				0	1	1	UPI000006E705	0		ENST00000379597		ENSG00000111846	4204		50			HGNC	p.P85P	rs367734006	GCNT2		SNV	G:0		1				ENST00000316170	protein_coding						G:0.0001	G		-/4525				Q8N7N7_HUMAN,Q08M29_HUMAN			YES	GCNT2,synonymous_variant,p.=,ENST00000316170,NM_001491.2;GCNT2,intron_variant,,ENST00000379597,;GCNT2,intron_variant,,ENST00000495262,NM_145649.4;GCNT2,intron_variant,,ENST00000410107,;GCNT2,intron_variant,,ENST00000397423,;GCNT2,intron_variant,,ENST00000489225,;GCNT2,intron_variant,,ENST00000485764,;GCNT2,intron_variant,,ENST00000474518,;GCNT2,intron_variant,,ENST00000475577,;GCNT2,intron_variant,,ENST00000489819,;GCNT2,upstream_gene_variant,,ENST00000459872,;GCNT2,intron_variant,,ENST00000461400,;							MODIFIER	-/1209		GNT2A_HUMAN			Transcript			.	ENSP00000368917	8.24E-06	CCDS34338.1	0.0011		1	
KRT28	0	LGGM	GRCh37	17	38953246	38953246	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	27	6	.	.	ENST00000306658.7:c.900T>C	p.Thr300=	p.T300=	ENST00000306658	NM_181535.3	300	acT/acC	0	1	1	UPI0000246D70	0		ENST00000306658		ENSG00000173908	30842		33			HGNC	p.T300T		KRT28		SNV							ENST00000306658	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF145		T		G		966/1685							YES	KRT28,synonymous_variant,p.=,ENST00000306658,NM_181535.3;							LOW	900/1395		K1C28_HUMAN			Transcript			.	ENSP00000305263		CCDS11376.1			1	
CRMP1	0	LGGM	GRCh37	4	5837687	5837687	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	42	6	.	.	ENST00000324989.7:c.1578G>A	p.Trp526Ter	p.W526*	ENST00000324989	NM_001014809.1	526	tgG/tgA	0	1		UPI0000047FA2	0	NA	ENST00000397890		ENSG00000072832	2365		48	0		HGNC	p.W526X		CRMP1		SNV							ENST00000324989	protein_coding	getma.org/?cm=var&var=hg19,4,5837687,C,T&fts=all		Gene3D:2.30.40.10,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Superfamily_domains:SSF51338,TIGRFAM_domain:TIGR02033		W/*		T	NA	1451/2911		NA		Q96I11_HUMAN,B3KT07_HUMAN				CRMP1,stop_gained,p.Trp526Ter,ENST00000324989,NM_001014809.1;CRMP1,stop_gained,p.Trp412Ter,ENST00000397890,NM_001313.3;CRMP1,stop_gained,p.Trp410Ter,ENST00000512574,NM_001288661.1;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;							HIGH	1236/1719	W412*	DPYL1_HUMAN			Transcript			.	ENSP00000380987		CCDS43207.1			1	
KIF7	0	LGGM	GRCh37	15	90172731	90172731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	31	6	.	.	ENST00000394412.3:c.3392A>G	p.Gln1131Arg	p.Q1131R	ENST00000394412	NM_198525.2	1131	cAg/cGg	0	1	1	UPI00015F81C7	0	NA	ENST00000394412		ENSG00000166813	30497		37	1.41		HGNC	p.Q1131R		KIF7		SNV			1				ENST00000394412	protein_coding	getma.org/?cm=var&var=hg19,15,90172731,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF342,Low_complexity_(Seg):seg		Q/R		C	low	3469/4551		getma.org/?cm=msa&ty=f&p=KIF7_HUMAN&rb=1028&re=1227&var=Q1131R	tolerated(0.28)	B7ZKY4_HUMAN			YES	KIF7,missense_variant,p.Gln1131Arg,ENST00000394412,NM_198525.2;TICRR,downstream_gene_variant,,ENST00000268138,;TICRR,downstream_gene_variant,,ENST00000560985,NM_152259.3;KIF7,upstream_gene_variant,,ENST00000558928,;TICRR,3_prime_UTR_variant,,ENST00000561095,;							MODERATE	3392/4032	Q1131R	KIF7_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000377934		CCDS32325.2			1	
ZFAND4	0	LGGM	GRCh37	10	46121644	46121644	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	54	7	.	.	ENST00000344646.5:c.1627A>G	p.Lys543Glu	p.K543E	ENST00000344646	NM_174890.2	543	Aaa/Gaa	0	1	1	UPI0000161363	0	NA	ENST00000344646		ENSG00000172671	23504		61	2.295		HGNC	p.K469E		ZFAND4		SNV							ENST00000374366	protein_coding	getma.org/?cm=var&var=hg19,10,46121644,T,C&fts=all		hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666		K/E		C	medium	1843/3241		getma.org/?cm=msa&ty=f&p=ZFAN4_HUMAN&rb=401&re=600&var=K543E	deleterious(0.02)	Q5VVY6_HUMAN,J3KPC0_HUMAN			YES	ZFAND4,missense_variant,p.Lys469Glu,ENST00000374366,NM_001282905.1,NM_001282906.1;ZFAND4,missense_variant,p.Lys543Glu,ENST00000344646,NM_174890.2,NM_001128324.2;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;							MODERATE	1627/2184	K543E	ZFAN4_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000339484		CCDS7214.1			1	
KCNQ2	0	LGGM	GRCh37	20	62062721	62062721	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	29	7	.	.	ENST00000359125.2:c.1120T>A	p.Ser374Thr	p.S374T	ENST00000359125	NM_172107.2	374	Tcg/Acg	0	1	1	UPI00001279ED	0	NA	ENST00000359125		ENSG00000075043	6296		36	-0.345		HGNC	p.S374T		KCNQ2		SNV			1				ENST00000359689	protein_coding	getma.org/?cm=var&var=hg19,20,62062721,A,T&fts=all		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF6		S/T		T	neutral	1295/3249		getma.org/?cm=msa&ty=f&p=KCNQ2_HUMAN&rb=313&re=463&var=S374T	tolerated(0.41)				YES	KCNQ2,missense_variant,p.Ser374Thr,ENST00000359689,;KCNQ2,missense_variant,p.Ser374Thr,ENST00000359125,NM_172107.2;KCNQ2,missense_variant,p.Ser374Thr,ENST00000357249,NM_172106.1,NM_172108.3;KCNQ2,missense_variant,p.Ser374Thr,ENST00000344462,;KCNQ2,intron_variant,,ENST00000354587,;KCNQ2,intron_variant,,ENST00000370224,;KCNQ2,intron_variant,,ENST00000360480,NM_004518.4;KCNQ2,downstream_gene_variant,,ENST00000344425,NM_172109.1;KCNQ2,downstream_gene_variant,,ENST00000482957,;KCNQ2,intron_variant,,ENST00000370221,;							MODERATE	1120/2619	S374T	KCNQ2_HUMAN			Transcript		benign(0.001)	.	ENSP00000352035		CCDS13520.1			1	
USH2A	0	LGGM	GRCh37	1	216591917	216591917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	33	7	.	.	ENST00000307340.3:c.590C>T	p.Pro197Leu	p.P197L	ENST00000307340	NM_206933.2	197	cCa/cTa	0	1	1	UPI000034E5B6	0	NA	ENST00000307340		ENSG00000042781	12601		40	1.95		HGNC	p.P197L		USH2A		SNV			1				ENST00000366942	protein_coding	getma.org/?cm=var&var=hg19,1,216591917,G,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00560,Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170		P/L		A	medium	977/18883		getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=124&re=286&var=P197L					YES	USH2A,missense_variant,p.Pro197Leu,ENST00000366943,;USH2A,missense_variant,p.Pro197Leu,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Pro197Leu,ENST00000366942,NM_007123.5;							MODERATE	590/15609	P197L	USH2A_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000305941		CCDS31025.1			1	
CCDC66	0	LGGM	GRCh37	3	56627049	56627049	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	43	7	.	.	ENST00000394672.3:c.988A>T	p.Arg330Ter	p.R330*	ENST00000394672	NM_001141947.1	330	Aga/Tga	0	1	1	UPI000020ADBC	0	NA	ENST00000394672		ENSG00000180376	27709		50	0		HGNC	p.R330X		CCDC66		SNV							ENST00000394672	protein_coding	getma.org/?cm=var&var=hg19,3,56627049,A,T&fts=all		hmmpanther:PTHR22736,hmmpanther:PTHR22736:SF1		R/*		T	NA	1058/3096		NA		F8WCY0_HUMAN			YES	CCDC66,stop_gained,p.Arg330Ter,ENST00000394672,NM_001141947.1,NM_001012506.4;CCDC66,stop_gained,p.Arg330Ter,ENST00000436465,;CCDC66,stop_gained,p.Arg296Ter,ENST00000326595,;CCDC66,intron_variant,,ENST00000422222,;CCDC66,non_coding_transcript_exon_variant,,ENST00000484623,;CCDC66,3_prime_UTR_variant,,ENST00000471681,;CCDC66,3_prime_UTR_variant,,ENST00000341455,;CCDC66,non_coding_transcript_exon_variant,,ENST00000494672,;CCDC66,upstream_gene_variant,,ENST00000468108,;							HIGH	988/2847	R330*	CCD66_HUMAN			Transcript			.	ENSP00000378167		CCDS46852.1			1	
TTC7B	0	LGGM	GRCh37	14	91119243	91119243	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	68	8	.	.	ENST00000328459.6:c.1460-1G>C		p.X487_splice	ENST00000328459	NM_001010854.1			0	1	1	UPI00001FD9F0	0		ENST00000328459		ENSG00000165914	19858		76			HGNC	-		TTC7B		SNV							ENST00000555005	protein_coding							G		-/3433				G3V3E4_HUMAN,B3KX34_HUMAN			YES	TTC7B,splice_acceptor_variant,,ENST00000357056,;TTC7B,splice_acceptor_variant,,ENST00000328459,NM_001010854.1;TTC7B,splice_acceptor_variant,,ENST00000554462,;RP11-1078H9.5,downstream_gene_variant,,ENST00000557007,;TTC7B,splice_acceptor_variant,,ENST00000556490,;TTC7B,splice_acceptor_variant,,ENST00000555005,;TTC7B,splice_acceptor_variant,,ENST00000556749,;TTC7B,intron_variant,,ENST00000555239,;							HIGH	1460/2532		TTC7B_HUMAN			Transcript			.	ENSP00000336127		CCDS32140.1			1	
UNC80	0	LGGM	GRCh37	2	210714345	210714345	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	31	8	.	.	ENST00000439458.1:c.3631C>G	p.Leu1211Val	p.L1211V	ENST00000439458	NM_032504.1	1211	Cta/Gta	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		39	1.83		HGNC	p.L1206V		UNC80		SNV							ENST00000272845	protein_coding	getma.org/?cm=var&var=hg19,2,210714345,C,G&fts=all		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		L/V		G	low	3711/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=1171&re=2869&var=L1211V					YES	UNC80,missense_variant,p.Leu1211Val,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Leu1206Val,ENST00000272845,NM_182587.3;UNC80,splice_region_variant,,ENST00000477301,;UNC80,splice_region_variant,,ENST00000489023,;							MODERATE	3631/9777	L1211V	UNC80_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000391088		CCDS46504.1			1	
MAP4K3	0	LGGM	GRCh37	2	39553414	39553414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	77	8	.	.	ENST00000263881.3:c.535G>T	p.Ala179Ser	p.A179S	ENST00000263881	NM_003618.3	179	Gct/Tct	0	1	1	UPI00000747E6	0	getma.org/pdb.php?prot=M4K3_HUMAN&from=16&to=273&var=A179S	ENST00000263881		ENSG00000011566	6865		85	1.495		HGNC	p.A116S		MAP4K3		SNV							ENST00000437545	protein_coding	getma.org/?cm=var&var=hg19,2,39553414,C,A&fts=all		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		A/S		A	low	860/4362		getma.org/?cm=msa&ty=f&p=M4K3_HUMAN&rb=16&re=273&var=A179S	deleterious(0)	Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN			YES	MAP4K3,missense_variant,p.Ala179Ser,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Ala179Ser,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Ala116Ser,ENST00000437545,;MAP4K3,upstream_gene_variant,,ENST00000536018,;RP11-449G16.1,upstream_gene_variant,,ENST00000609671,;MAP4K3,missense_variant,p.Trp105Cys,ENST00000429397,;MAP4K3,upstream_gene_variant,,ENST00000414968,;							MODERATE	535/2685	A179S	M4K3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263881		CCDS1803.1			1	
PER1	0	LGGM	GRCh37	17	8052623	8052623	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	55	9	.	.	ENST00000317276.4:c.859G>A	p.Gly287Ser	p.G287S	ENST00000317276	NM_002616.2	287	Ggc/Agc	0	1	1	UPI000013FFF5	0	getma.org/pdb.php?prot=PER1_HUMAN&from=201&to=370&var=G287S	ENST00000317276		ENSG00000179094	8845		64	-0.59		HGNC	p.G287S		PER1		SNV							ENST00000317276	protein_coding	getma.org/?cm=var&var=hg19,17,8052623,C,T&fts=all		hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8		G/S		T	neutral	1097/4707		getma.org/?cm=msa&ty=f&p=PER1_HUMAN&rb=201&re=370&var=G287S	tolerated(1)	J3QLQ5_HUMAN,A2I2P6_HUMAN			YES	PER1,missense_variant,p.Gly287Ser,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Gly267Ser,ENST00000581082,;PER1,missense_variant,p.Gly271Ser,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,missense_variant,p.Gly287Ser,ENST00000582719,;PER1,missense_variant,p.Gly287Ser,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,;							MODERATE	859/3873	G287S	PER1_HUMAN			Transcript		benign(0.005)	.	ENSP00000314420		CCDS11131.1			1	
ARID4A	0	LGGM	GRCh37	14	58827705	58827705	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	57	9	.	.	ENST00000355431.3:c.2025C>G	p.Leu675=	p.L675=	ENST00000355431	NM_002892.3	675	ctC/ctG	0	1	1	UPI000013FD01	0		ENST00000355431		ENSG00000032219	9885		66			HGNC	p.L675L		ARID4A		SNV							ENST00000348476	protein_coding			Gene3D:1wgsA00,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF1		L		G		2398/5891				H7C485_HUMAN,C9JIF4_HUMAN			YES	ARID4A,synonymous_variant,p.=,ENST00000355431,NM_002892.3;ARID4A,synonymous_variant,p.=,ENST00000431317,;ARID4A,synonymous_variant,p.=,ENST00000348476,NM_023001.2,NM_023000.2;ARID4A,synonymous_variant,p.=,ENST00000395168,;ARID4A,synonymous_variant,p.=,ENST00000417477,;ARID4A,downstream_gene_variant,,ENST00000553355,;ARID4A,non_coding_transcript_exon_variant,,ENST00000469635,;ARID4A,upstream_gene_variant,,ENST00000466065,;							LOW	2025/3774		ARI4A_HUMAN			Transcript			.	ENSP00000347602		CCDS9732.1			1	
ACACB	0	LGGM	GRCh37	12	109671583	109671583	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	47	9	.	.	ENST00000338432.7:c.4170C>G	p.Ala1390=	p.A1390=	ENST00000338432		1390	gcC/gcG	0	1	1	UPI0000DBEEFB	0		ENST00000338432		ENSG00000076555	85		56			HGNC	p.A56A		ACACB		SNV							ENST00000543201	protein_coding			Pfam_domain:PF08326,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84		A		G		4289/9360				F5H5C3_HUMAN,E9PEW7_HUMAN			YES	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,upstream_gene_variant,,ENST00000542524,;							LOW	4170/7377		ACACB_HUMAN			Transcript			.	ENSP00000341044		CCDS31898.1			1	
NUPL1	0	LGGM	GRCh37	13	25887802	25887802	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	50	9	.	.	ENST00000381736.3:c.487A>G	p.Thr163Ala	p.T163A	ENST00000381736	NM_014089.3	163	Aca/Gca	0	1	1	UPI000006D9D4	0	NA	ENST00000381736		ENSG00000139496	20261		59	1.43		HGNC	p.T110A	rs746727418	NUPL1		SNV							ENST00000394327	protein_coding	getma.org/?cm=var&var=hg19,13,25887802,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13437		T/A		G	low	737/4322	3.00E-05	getma.org/?cm=msa&ty=f&p=NUPL1_HUMAN&rb=1&re=199&var=T163A	tolerated(0.24)				YES	NUPL1,missense_variant,p.Thr163Ala,ENST00000463407,;NUPL1,missense_variant,p.Thr163Ala,ENST00000381736,NM_014089.3,NM_001008564.1;NUPL1,missense_variant,p.Thr151Ala,ENST00000381718,;NUPL1,missense_variant,p.Thr163Ala,ENST00000381747,;NUPL1,missense_variant,p.Thr110Ala,ENST00000394327,;NUPL1,non_coding_transcript_exon_variant,,ENST00000466694,;NUPL1,non_coding_transcript_exon_variant,,ENST00000495460,;NUPL1,downstream_gene_variant,,ENST00000460326,;NUPL1,downstream_gene_variant,,ENST00000490231,;NUPL1,downstream_gene_variant,,ENST00000465068,;							MODERATE	487/1800	T163A	NUPL1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000371155	1.65E-05	CCDS9314.1			1	
CD6	0	LGGM	GRCh37	11	60783227	60783227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060555	H060555N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	49	10	.	.	ENST00000313421.7:c.1430A>T	p.Asp477Val	p.D477V	ENST00000313421	NM_006725.4	477	gAc/gTc	0	1	1	UPI000013F532	0	NA	ENST00000313421		ENSG00000013725	1691		59	1.79		HGNC	p.D445V		CD6		SNV							ENST00000344028	protein_coding	getma.org/?cm=var&var=hg19,11,60783227,A,T&fts=all		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF252,Low_complexity_(Seg):seg		D/V		T	low	1616/3252		getma.org/?cm=msa&ty=f&p=CD6_HUMAN&rb=362&re=561&var=D477V	tolerated(0.17)				YES	CD6,missense_variant,p.Asp477Val,ENST00000313421,NM_006725.4;CD6,missense_variant,p.Asp445Val,ENST00000344028,NM_001254750.1;CD6,missense_variant,p.Asp445Val,ENST00000352009,;CD6,missense_variant,p.Asp344Val,ENST00000433107,;CD6,intron_variant,,ENST00000346437,;CD6,intron_variant,,ENST00000452451,NM_001254751.1;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,,ENST00000419282,;CD6,upstream_gene_variant,,ENST00000505761,;							MODERATE	1430/2007	D477V	CD6_HUMAN			Transcript		benign(0.1)	.	ENSP00000323280		CCDS7999.1			1	
PLCB1	0	LGGM	GRCh37	20	8703038	8703038	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060555	H060555N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	46	10	.	.	ENST00000338037.6:c.1551T>C	p.Asp517=	p.D517=	ENST00000338037	NM_015192.3	517	gaT/gaC	0	1	1	UPI0000131A8F	0		ENST00000338037		ENSG00000182621	15917		56			HGNC	p.D517D		PLCB1		SNV			1				ENST00000378641	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695		D		C		1578/6729							YES	PLCB1,synonymous_variant,p.=,ENST00000378641,NM_182734.2;PLCB1,synonymous_variant,p.=,ENST00000338037,NM_015192.3;PLCB1,synonymous_variant,p.=,ENST00000378637,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,synonymous_variant,p.=,ENST00000487210,;							LOW	1551/3651		PLCB1_HUMAN			Transcript			.	ENSP00000338185		CCDS13102.1			1	
MUC12	0	LGGM	GRCh37	7	100643791	100643791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060555	H060555N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	44	12	.	.	ENST00000536621.1:c.9947G>A	p.Arg3316His	p.R3316H	ENST00000536621	NM_001164462.1	3316	cGc/cAc	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510	0.0179	56	0		HGNC	p.R3316H	rs776107371	MUC12	0.000442	SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100643791,G,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9,Low_complexity_(Seg):seg		R/H		A	neutral	10376/16737	0.000742	getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=R3459H						MUC12,missense_variant,p.Arg3459His,ENST00000379442,;MUC12,missense_variant,p.Arg3316His,ENST00000536621,NM_001164462.1;	0.00633						MODERATE	10376/16437	R3459H	MUC12_HUMAN			Transcript		probably_damaging(0.972)	common_variant	ENSP00000368755	0.000916				1	
RAB37	0	LGGM	GRCh37	17	72736948	72736948	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060555	H060555N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060555N.bam, H060555T.bam	Illumina HiSeq	137	18	.	.	ENST00000392614.4:c.150C>A	p.Phe50Leu	p.F50L	ENST00000392614	NM_001163989.1	50	ttC/ttA	0	1		UPI00000015D4	0	getma.org/pdb.php?prot=RAB37_HUMAN&from=31&to=193&var=F45L	ENST00000392613		ENSG00000172794	30268		155	-1.475		HGNC	p.F50L		RAB37		SNV							ENST00000392614	protein_coding	getma.org/?cm=var&var=hg19,17,72736948,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF381,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00177,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		F/L		A	neutral	191/2617		getma.org/?cm=msa&ty=f&p=RAB37_HUMAN&rb=31&re=193&var=F45L	tolerated(1)	B3KPZ5_HUMAN,A8MTC6_HUMAN				RAB37,missense_variant,p.Phe45Leu,ENST00000392610,;RAB37,missense_variant,p.Phe50Leu,ENST00000392614,NM_001163989.1;RAB37,missense_variant,p.Phe45Leu,ENST00000392613,NM_001006638.2;RAB37,missense_variant,p.Phe18Leu,ENST00000528438,;RAB37,intron_variant,,ENST00000340415,NM_175738.4;RAB37,intron_variant,,ENST00000392615,;RAB37,intron_variant,,ENST00000392612,NM_001163990.1;RAB37,intron_variant,,ENST00000402449,;RAB37,missense_variant,p.Phe45Leu,ENST00000481224,;RAB37,non_coding_transcript_exon_variant,,ENST00000533530,;RAB37,intron_variant,,ENST00000392617,;RAB37,intron_variant,,ENST00000577548,;RAB37,intron_variant,,ENST00000527040,;RAB37,upstream_gene_variant,,ENST00000488977,;RAB37,upstream_gene_variant,,ENST00000531420,;							MODERATE	135/672	F45L	RAB37_HUMAN			Transcript		benign(0.006)	.	ENSP00000376389		CCDS32722.1			1	
SEMA6B	0	LGGM	GRCh37	19	4550840	4550840	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	22	2	.	.	ENST00000586582.1:c.1092G>T	p.Pro364=	p.P364=	ENST00000586582	NM_032108.3	364	ccG/ccT	0	1	1	UPI000004BA6B	0		ENST00000586582		ENSG00000167680	10739		24			HGNC	p.P364P		SEMA6B		SNV							ENST00000586965	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912		P		A		1403/3986							YES	SEMA6B,synonymous_variant,p.=,ENST00000586582,NM_032108.3;SEMA6B,synonymous_variant,p.=,ENST00000301293,;SEMA6B,synonymous_variant,p.=,ENST00000586965,;SEMA6B,upstream_gene_variant,,ENST00000589889,;							LOW	1092/2667		SEM6B_HUMAN			Transcript			.	ENSP00000467290		CCDS12131.1			1	
CCDC144A	0	LGGM	GRCh37	17	16623517	16623517	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	23	3	.	.	ENST00000443444.2:c.1721C>T	p.Ala574Val	p.A574V	ENST00000443444		574	gCa/gTa	0	1		UPI0000F095D0	0	NA	ENST00000360524		ENSG00000170160	29072		26	1.385		HGNC	p.A574V		CCDC144A		SNV							ENST00000360495	protein_coding	getma.org/?cm=var&var=hg19,17,16623517,C,T&fts=all		hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245		A/V		T	low	1797/5830		getma.org/?cm=msa&ty=f&p=C144B_HUMAN&rb=1&re=706&var=A574V	tolerated(0.06)					CCDC144A,missense_variant,p.Ala574Val,ENST00000443444,;CCDC144A,missense_variant,p.Ala574Val,ENST00000399273,;CCDC144A,missense_variant,p.Ala574Val,ENST00000360524,NM_014695.1;CCDC144A,missense_variant,p.Ala294Val,ENST00000456009,;RP11-219A15.1,missense_variant,p.Ala574Val,ENST00000448331,;CCDC144A,missense_variant,p.Ala574Val,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;CCDC144A,upstream_gene_variant,,ENST00000463809,;							MODERATE	1721/4284	A574V	C144A_HUMAN			Transcript		benign(0.036)	.	ENSP00000353717		CCDS45621.1			1	
DENND3	0	LGGM	GRCh37	8	142199183	142199183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	20	3	.	.	ENST00000262585.2:c.2943G>T	p.Gln981His	p.Q981H	ENST00000262585	NM_014957.2	981	caG/caT	0	1	1	UPI00003CEFBA	0	NA	ENST00000262585		ENSG00000105339	29134		23	2.36		HGNC	p.Q1061H		DENND3		SNV							ENST00000519811	protein_coding	getma.org/?cm=var&var=hg19,8,142199183,G,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF3,PROSITE_profiles:PS50294		Q/H		T	medium	3221/5438		getma.org/?cm=msa&ty=f&p=DEND3_HUMAN&rb=976&re=1017&var=Q981H	deleterious(0)	B3KRG7_HUMAN			YES	DENND3,missense_variant,p.Gln1061His,ENST00000519811,;DENND3,missense_variant,p.Gln981His,ENST00000262585,NM_014957.2;DENND3,missense_variant,p.Gln929His,ENST00000424248,;DENND3,missense_variant,p.Gln986His,ENST00000518668,;DENND3,missense_variant,p.Gln31His,ENST00000523308,;DENND3,upstream_gene_variant,,ENST00000520725,;DENND3,downstream_gene_variant,,ENST00000517985,;DENND3,downstream_gene_variant,,ENST00000518806,;DENND3,non_coding_transcript_exon_variant,,ENST00000517813,;DENND3,non_coding_transcript_exon_variant,,ENST00000520571,;DENND3,upstream_gene_variant,,ENST00000521835,;DENND3,upstream_gene_variant,,ENST00000523530,;							MODERATE	2943/3597	Q981H	DEND3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262585		CCDS34947.1			1	
ARHGEF26	0	LGGM	GRCh37	3	153870578	153870578	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	36	3	.	.	ENST00000356448.4:c.1344A>C	p.Ile448=	p.I448=	ENST00000356448	NM_001251962.1	448	atA/atC	0	1	1	UPI00001410D0	0		ENST00000356448		ENSG00000114790	24490		39			HGNC	p.I448I	rs776030783	ARHGEF26		SNV							ENST00000465093	protein_coding			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,SMART_domains:SM00325,Superfamily_domains:SSF48065		I		C		1628/5254							YES	ARHGEF26,synonymous_variant,p.=,ENST00000356448,NM_001251962.1;ARHGEF26,synonymous_variant,p.=,ENST00000465093,NM_015595.3,NM_001251963.1;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,synonymous_variant,p.=,ENST00000496710,;							LOW	1344/2616		ARHGQ_HUMAN			Transcript			.	ENSP00000348828	3.41E-05	CCDS46938.1			1	
STARD6	0	LGGM	GRCh37	18	51880940	51880940	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	44	3	.	.	ENST00000581310.1:c.4G>T	p.Asp2Tyr	p.D2Y	ENST00000581310		2	Gac/Tac	0	1		UPI0000136137	0	NA	ENST00000307844		ENSG00000174448	18066		47	2.495		HGNC	p.D2Y		STARD6		SNV							ENST00000581310	protein_coding	getma.org/?cm=var&var=hg19,18,51880940,C,A&fts=all		Gene3D:3.30.530.20,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7		D/Y		A	medium	4/663		getma.org/?cm=msa&ty=f&p=STAR6_HUMAN&rb=1&re=208&var=D2Y	deleterious(0)					STARD6,missense_variant,p.Asp2Tyr,ENST00000581310,;STARD6,missense_variant,p.Asp2Tyr,ENST00000577499,;STARD6,missense_variant,p.Asp2Tyr,ENST00000307844,NM_139171.1;STARD6,missense_variant,p.Asp2Tyr,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000300091,NM_173529.4;C18orf54,upstream_gene_variant,,ENST00000382911,;STARD6,upstream_gene_variant,,ENST00000580990,;C18orf54,upstream_gene_variant,,ENST00000578138,;							MODERATE	4/663	D2Y	STAR6_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000310814		CCDS11955.1			1	
ATP2B2	0	LGGM	GRCh37	3	10442743	10442743	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	3	.	.	ENST00000360273.2:c.675C>T	p.Asp225=	p.D225=	ENST00000360273	NM_001001331.2	225	gaC/gaT	0	1		UPI00001261EF	0		ENST00000352432		ENSG00000157087	815		17			HGNC	p.D225D	rs758211761	ATP2B2		SNV							ENST00000460129	protein_coding			Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,TIGRFAM_domain:TIGR01494		D		A		745/8593	1.50E-05			Q4J699_HUMAN,Q4J696_HUMAN				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,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000480680,;							LOW	675/3732		AT2B2_HUMAN			Transcript			.	ENSP00000324172	8.24E-06	CCDS33701.1			1	
KCND1	0	LGGM	GRCh37	X	48826350	48826350	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	4	3	.	.	ENST00000218176.3:c.329G>T	p.Cys110Phe	p.C110F	ENST00000218176	NM_004979.4	110	tGc/tTc	0	1	1	UPI000000DB05	0	getma.org/pdb.php?prot=KCND1_HUMAN&from=42&to=131&var=C110F	ENST00000218176		ENSG00000102057	6237		7	3.455		HGNC	p.C110F		KCND1		SNV							ENST00000218176	protein_coding	getma.org/?cm=var&var=hg19,X,48826350,C,A&fts=all		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF117,Gene3D:3.30.710.10,Pfam_domain:PF02214,SMART_domains:SM00225,Superfamily_domains:SSF54695		C/F		A	medium	1627/4437		getma.org/?cm=msa&ty=f&p=KCND1_HUMAN&rb=42&re=131&var=C110F	deleterious(0)	A6NEF1_HUMAN			YES	KCND1,missense_variant,p.Cys110Phe,ENST00000218176,NM_004979.4;KCND1,upstream_gene_variant,,ENST00000376477,;GRIPAP1,downstream_gene_variant,,ENST00000376441,NM_020137.3;GRIPAP1,downstream_gene_variant,,ENST00000376425,;GRIPAP1,downstream_gene_variant,,ENST00000376444,;KCND1,upstream_gene_variant,,ENST00000419374,;							MODERATE	329/1944	C110F	KCND1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000218176		CCDS14314.1			1	
LPCAT1	0	LGGM	GRCh37	5	1470989	1470989	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	13	3	.	.	ENST00000283415.3:c.1230C>G	p.Val410=	p.V410=	ENST00000283415	NM_024830.3	410	gtC/gtG	0	1	1	UPI000004771C	0		ENST00000283415		ENSG00000153395	25718		16			HGNC	p.V410V		LPCAT1		SNV							ENST00000283415	protein_coding			Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF11,SMART_domains:SM00054,Superfamily_domains:SSF47473		V		C		1363/3966				D3DTC2_HUMAN			YES	LPCAT1,synonymous_variant,p.=,ENST00000283415,NM_024830.3;LPCAT1,upstream_gene_variant,,ENST00000503252,;LPCAT1,synonymous_variant,p.=,ENST00000475622,;							LOW	1230/1605		PCAT1_HUMAN			Transcript			.	ENSP00000283415		CCDS3864.1			1	
UTP18	0	LGGM	GRCh37	17	49371302	49371302	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	35	3	.	.	ENST00000225298.7:c.1542A>G	p.Pro514=	p.P514=	ENST00000225298	NM_016001.2	514	ccA/ccG	0	1	1	UPI000051E38C	0		ENST00000225298		ENSG00000011260	24274		38			HGNC	p.S142G		UTP18		SNV							ENST00000583205	protein_coding			hmmpanther:PTHR18359,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		P		G		1599/1894							YES	UTP18,synonymous_variant,p.=,ENST00000225298,NM_016001.2;UTP18,intron_variant,,ENST00000579261,;UTP18,intron_variant,,ENST00000582832,;UTP18,missense_variant,p.Ser142Gly,ENST00000583205,;UTP18,upstream_gene_variant,,ENST00000582150,;							LOW	1542/1671		UTP18_HUMAN			Transcript			.	ENSP00000225298		CCDS42362.1			1	
BRINP2	0	LGGM	GRCh37	1	177199054	177199054	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	19	4	.	.	ENST00000361539.4:c.42G>A	p.Pro14=	p.P14=	ENST00000361539	NM_021165.2	14	ccG/ccA	0	1	1	UPI000006DF55	0		ENST00000361539		ENSG00000198797	13746	0.0013	23			HGNC	p.P14P	rs777691956,COSM4025456	BRINP2		SNV						0,1	ENST00000361539	protein_coding			hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5,Cleavage_site_(Signalp):SignalP-TM		P		A		354/3558	1.54E-05						YES	BRINP2,synonymous_variant,p.=,ENST00000361539,NM_021165.2;					0,1		LOW	42/2352		BRNP2_HUMAN			Transcript			common_variant	ENSP00000354481	0.000132	CCDS1320.1			1	
CPZ	0	LGGM	GRCh37	4	8621211	8621211	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	4	.	.	ENST00000360986.4:c.1826C>G	p.Ser609Cys	p.S609C	ENST00000360986	NM_001014447.2	609	tCt/tGt	0	1	1	UPI000020BCC5	0	NA	ENST00000360986		ENSG00000109625	2333		18	0		HGNC	p.S609C	rs368652750	CPZ		SNV	G:0						ENST00000360986	protein_coding	getma.org/?cm=var&var=hg19,4,8621211,C,G&fts=all		hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532		S/C	G:0.0001	G	neutral	2000/2267		getma.org/?cm=msa&ty=f&p=CBPZ_HUMAN&rb=583&re=652&var=S609C	deleterious(0.02)				YES	CPZ,missense_variant,p.Ser217Cys,ENST00000429646,;CPZ,missense_variant,p.Ser472Cys,ENST00000382480,NM_001014448.2;CPZ,missense_variant,p.Ser609Cys,ENST00000360986,NM_001014447.2;CPZ,missense_variant,p.Ser598Cys,ENST00000315782,NM_003652.3;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,non_coding_transcript_exon_variant,,ENST00000513486,;							MODERATE	1826/1959	S609C	CBPZ_HUMAN			Transcript		benign(0.325)	.	ENSP00000354255		CCDS33953.1			1	
DPH2	0	LGGM	GRCh37	1	44437717	44437717	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	22	4	.	.	ENST00000255108.3:c.1143C>G	p.Leu381=	p.L381=	ENST00000255108	NM_001384.4	381	ctC/ctG	0	1	1	UPI0000070CCB	0		ENST00000255108		ENSG00000132768	3004		26			HGNC	p.L154L		DPH2		SNV							ENST00000459879	protein_coding			hmmpanther:PTHR10762,hmmpanther:PTHR10762:SF2,TIGRFAM_domain:TIGR00272		L		G		1315/2472				B3KRB8_HUMAN			YES	DPH2,synonymous_variant,p.=,ENST00000255108,NM_001384.4;DPH2,synonymous_variant,p.=,ENST00000412950,;DPH2,synonymous_variant,p.=,ENST00000459879,;DPH2,intron_variant,,ENST00000396758,NM_001039589.1;IPO13,downstream_gene_variant,,ENST00000372343,NM_014652.3;ATP6V0B,upstream_gene_variant,,ENST00000532642,;ATP6V0B,upstream_gene_variant,,ENST00000472174,NM_004047.3;IPO13,downstream_gene_variant,,ENST00000372339,;ATP6V0B,upstream_gene_variant,,ENST00000236067,NM_001039457.1;ATP6V0B,upstream_gene_variant,,ENST00000471859,;ATP6V0B,upstream_gene_variant,,ENST00000498664,;ATP6V0B,upstream_gene_variant,,ENST00000472505,;DPH2,downstream_gene_variant,,ENST00000529729,;DPH2,downstream_gene_variant,,ENST00000477294,;DPH2,downstream_gene_variant,,ENST00000471934,;ATP6V0B,upstream_gene_variant,,ENST00000472277,;IPO13,downstream_gene_variant,,ENST00000486876,;DPH2,3_prime_UTR_variant,,ENST00000495421,;DPH2,3_prime_UTR_variant,,ENST00000524776,;DPH2,intron_variant,,ENST00000527319,;ATP6V0B,upstream_gene_variant,,ENST00000468183,;ATP6V0B,upstream_gene_variant,,ENST00000473485,;DPH2,downstream_gene_variant,,ENST00000490861,;ATP6V0B,upstream_gene_variant,,ENST00000496131,;DPH2,downstream_gene_variant,,ENST00000476260,;DPH2,downstream_gene_variant,,ENST00000492306,;DPH2,downstream_gene_variant,,ENST00000527567,;DPH2,downstream_gene_variant,,ENST00000534786,;DPH2,downstream_gene_variant,,ENST00000530988,;ATP6V0B,upstream_gene_variant,,ENST00000532072,;DPH2,downstream_gene_variant,,ENST00000534655,;ATP6V0B,upstream_gene_variant,,ENST00000461670,;DPH2,downstream_gene_variant,,ENST00000532140,;ATP6V0B,upstream_gene_variant,,ENST00000498208,;							LOW	1143/1470		DPH2_HUMAN			Transcript			.	ENSP00000255108		CCDS504.1			1	
LAMB1	0	LGGM	GRCh37	7	107580737	107580737	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	22	4	.	.	ENST00000222399.6:c.3458G>T	p.Cys1153Phe	p.C1153F	ENST00000222399	NM_002291.2	1153	tGc/tTc	0	1	1	UPI00001AE63F	0	NA	ENST00000222399		ENSG00000091136	6486		26	4.79		HGNC	p.C1177F		LAMB1		SNV			1				ENST00000393561	protein_coding	getma.org/?cm=var&var=hg19,7,107580737,C,A&fts=all		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,SMART_domains:SM00181,Superfamily_domains:SSF57196		C/F		A	high	3689/5725		getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=1132&re=1182&var=C1153F	deleterious(0)	Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,missense_variant,p.Cys1177Phe,ENST00000393561,;LAMB1,missense_variant,p.Cys1153Phe,ENST00000222399,NM_002291.2;CTB-13F3.1,upstream_gene_variant,,ENST00000608515,;LAMB1,non_coding_transcript_exon_variant,,ENST00000468999,;LAMB1,upstream_gene_variant,,ENST00000474380,;LAMB1,downstream_gene_variant,,ENST00000476039,;LAMB1,upstream_gene_variant,,ENST00000470995,;LAMB1,upstream_gene_variant,,ENST00000491196,;							MODERATE	3458/5361	C1153F	LAMB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000222399		CCDS5750.1			1	
NGF	0	LGGM	GRCh37	1	115829323	115829323	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	18	4	.	.	ENST00000369512.2:c.94A>T	p.Ile32Phe	p.I32F	ENST00000369512	NM_002506.2	32	Atc/Ttc	0	1	1	UPI0000039B11	0	NA	ENST00000369512		ENSG00000134259	7808		22	1.385		HGNC	p.I32F		NGF		SNV			1				ENST00000369512	protein_coding	getma.org/?cm=var&var=hg19,1,115829323,T,A&fts=all		PIRSF_domain:PIRSF001789,Prints_domain:PR01925,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF10		I/F		A	low	263/1047		getma.org/?cm=msa&ty=f&p=NGF_HUMAN&rb=1&re=124&var=I32F	deleterious(0.03)				YES	NGF,missense_variant,p.Ile32Phe,ENST00000369512,NM_002506.2;RP4-663N10.1,intron_variant,,ENST00000425449,;							MODERATE	94/726	I32F	NGF_HUMAN			Transcript		benign(0.001)	.	ENSP00000358525		CCDS882.1			1	
KRT38	0	LGGM	GRCh37	17	39594532	39594532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	17	4	.	.	ENST00000246646.3:c.1054G>A	p.Glu352Lys	p.E352K	ENST00000246646	NM_006771.3	352	Gag/Aag	0	1	1	UPI000013CBF9	0	getma.org/pdb.php?prot=KRT38_HUMAN&from=103&to=414&var=E352K	ENST00000246646		ENSG00000171360	6456		21	2.63		HGNC	p.E352K	rs776562651	KRT38		SNV				9.62E-05			ENST00000246646	protein_coding	getma.org/?cm=var&var=hg19,17,39594532,C,T&fts=all		Gene3D:1.20.5.170,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148,Superfamily_domains:SSF64593		E/K		T	medium	1054/2337		getma.org/?cm=msa&ty=f&p=KRT38_HUMAN&rb=103&re=414&var=E352K	deleterious(0.03)				YES	KRT38,missense_variant,p.Glu352Lys,ENST00000246646,NM_006771.3;							MODERATE	1054/1371	E352K	KRT38_HUMAN			Transcript		benign(0.098)	.	ENSP00000246646	8.24E-06	CCDS11392.1			1	
COL27A1	0	LGGM	GRCh37	9	116930419	116930419	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	8	5	.	.	ENST00000356083.3:c.584G>A	p.Gly195Asp	p.G195D	ENST00000356083	NM_032888.2	195	gGc/gAc	0	1	1	UPI0000062271	0	NA	ENST00000356083		ENSG00000196739	22986		13	2.22		HGNC	p.G195D		COL27A1		SNV							ENST00000356083	protein_coding	getma.org/?cm=var&var=hg19,9,116930419,G,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362,SMART_domains:SM00210,Superfamily_domains:SSF49899		G/D		A	medium	975/7790		getma.org/?cm=msa&ty=f&p=CORA1_HUMAN&rb=1&re=259&var=G195D					YES	COL27A1,missense_variant,p.Gly195Asp,ENST00000356083,NM_032888.2;COL27A1,missense_variant,p.Gly142Asp,ENST00000451716,;COL27A1,upstream_gene_variant,,ENST00000494090,;							MODERATE	584/5583	G195D	CORA1_HUMAN			Transcript		unknown(0)	.	ENSP00000348385		CCDS6802.1			1	
AMN1	0	LGGM	GRCh37	12	31854924	31854924	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	17	5	.	.	ENST00000281471.6:c.189C>A	p.Val63=	p.V63=	ENST00000281471	NM_001113402.1	63	gtC/gtA	0	1	1	UPI000013DC7A	0		ENST00000281471		ENSG00000151743	27281		22			HGNC	p.V45V		AMN1		SNV							ENST00000536761	protein_coding			Gene3D:3.80.10.10,hmmpanther:PTHR23125,SMART_domains:SM00367,Superfamily_domains:SSF52047		V		T		355/2110				F5H3D1_HUMAN,F5H1R2_HUMAN,F5GWF7_HUMAN,B7Z7J3_HUMAN			YES	AMN1,splice_region_variant,p.=,ENST00000506446,;AMN1,synonymous_variant,p.=,ENST00000281471,NM_001113402.1,NM_001278411.1;AMN1,synonymous_variant,p.=,ENST00000537562,;AMN1,synonymous_variant,p.=,ENST00000536761,NM_001278412.1;AMN1,synonymous_variant,p.=,ENST00000535408,;AMN1,synonymous_variant,p.=,ENST00000537960,;AMN1,5_prime_UTR_variant,,ENST00000541931,;AMN1,5_prime_UTR_variant,,ENST00000542781,;AMN1,downstream_gene_variant,,ENST00000457428,;							LOW	189/777		AMN1_HUMAN			Transcript			.	ENSP00000281471		CCDS44858.1			1	
KBTBD4	0	LGGM	GRCh37	11	47594594	47594594	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	12	5	.	.	ENST00000430070.2:c.1493G>A	p.Arg498Gln	p.R498Q	ENST00000430070	NM_018095.4	498	cGa/cAa	0	1		UPI000007169E	0	NA	ENST00000395288		ENSG00000123444	23761		17	0		HGNC	p.R482Q	rs750426060	KBTBD4	6.06E-05	SNV							ENST00000395288	protein_coding	getma.org/?cm=var&var=hg19,11,47594594,C,T&fts=all		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF24,Gene3D:1zgkA00,Superfamily_domains:0052715		R/Q		T	neutral	1616/2460	1.50E-05	getma.org/?cm=msa&ty=f&p=KBTB4_HUMAN&rb=445&re=518&var=R482Q	tolerated(0.06)	E9PJY1_HUMAN,E9PJ66_HUMAN				KBTBD4,missense_variant,p.Arg507Gln,ENST00000533290,;KBTBD4,missense_variant,p.Arg482Gln,ENST00000395288,NM_016506.5;KBTBD4,missense_variant,p.Arg482Gln,ENST00000526005,;KBTBD4,missense_variant,p.Arg498Gln,ENST00000430070,NM_018095.4;PTPMT1,downstream_gene_variant,,ENST00000534775,;PTPMT1,downstream_gene_variant,,ENST00000426530,NM_001143984.1;KBTBD4,downstream_gene_variant,,ENST00000525720,;PTPMT1,downstream_gene_variant,,ENST00000326656,;PTPMT1,downstream_gene_variant,,ENST00000326674,NM_175732.2;KBTBD4,downstream_gene_variant,,ENST00000529499,;KBTBD4,downstream_gene_variant,,ENST00000531067,;KBTBD4,upstream_gene_variant,,ENST00000450908,;KBTBD4,downstream_gene_variant,,ENST00000534239,;KBTBD4,downstream_gene_variant,,ENST00000529946,;RNU5E-10P,downstream_gene_variant,,ENST00000363506,;PTPMT1,non_coding_transcript_exon_variant,,ENST00000527079,;NDUFS3,intron_variant,,ENST00000533507,;KBTBD4,downstream_gene_variant,,ENST00000530668,;							MODERATE	1445/1557	R482Q	KBTB4_HUMAN			Transcript		benign(0.054)	.	ENSP00000378703	1.65E-05	CCDS7940.1			1	
PC	0	LGGM	GRCh37	11	66636374	66636374	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	15	5	.	.	ENST00000393960.1:c.965T>G	p.Phe322Cys	p.F322C	ENST00000393960	NM_001040716.1	322	tTc/tGc	0	1		UPI0000132BC4	0	getma.org/pdb.php?prot=PYC_HUMAN&from=151&to=360&var=F322C	ENST00000393955		ENSG00000173599	8636		20	4.59		HGNC	p.F322C		PC		SNV			1				ENST00000355677	protein_coding	getma.org/?cm=var&var=hg19,11,66636374,A,C&fts=all		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		F/C		C	high	1046/4004		getma.org/?cm=msa&ty=f&p=PYC_HUMAN&rb=151&re=360&var=F322C	deleterious(0)	E9PS68_HUMAN				PC,missense_variant,p.Phe322Cys,ENST00000393960,NM_001040716.1;PC,missense_variant,p.Phe322Cys,ENST00000393958,NM_000920.3;PC,missense_variant,p.Phe322Cys,ENST00000393955,NM_022172.2;PC,missense_variant,p.Phe322Cys,ENST00000355677,;PC,missense_variant,p.Phe282Cys,ENST00000524491,;PC,downstream_gene_variant,,ENST00000528403,;PC,downstream_gene_variant,,ENST00000531614,;							MODERATE	965/3537	F322C	PYC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377527		CCDS8152.1			1	
ELMO1	0	LGGM	GRCh37	7	37136223	37136223	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	15	6	.	.	ENST00000310758.4:c.1300+1G>T		p.X434_splice	ENST00000310758	NM_014800.10			0	1	1	UPI000006F687	0		ENST00000310758		ENSG00000155849	16286		21			HGNC	-		ELMO1		SNV							ENST00000341056	protein_coding							A		-/4022				C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN			YES	ELMO1,splice_donor_variant,,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,splice_donor_variant,,ENST00000442504,NM_001206482.1;ELMO1,splice_donor_variant,,ENST00000448602,;ELMO1,splice_donor_variant,,ENST00000341056,;ELMO1,downstream_gene_variant,,ENST00000433246,;ELMO1,splice_donor_variant,,ENST00000472359,;ELMO1,splice_donor_variant,,ENST00000420636,;							HIGH	1300/2184		ELMO1_HUMAN			Transcript			.	ENSP00000312185		CCDS5449.1			1	
TRAPPC9	0	LGGM	GRCh37	8	141460969	141460969	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	6	.	.	ENST00000389328.4:c.798A>G	p.Thr266=	p.T266=	ENST00000389328	NM_031466.5	266	acA/acG	0	1		UPI00001A46C7	0		ENST00000438773		ENSG00000167632	30832		20			HGNC	p.T168T		TRAPPC9		SNV			1				ENST00000389327	protein_coding			Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11		T		C		638/4297								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,;							LOW	504/3447		TPPC9_HUMAN			Transcript			.	ENSP00000405060		CCDS55278.1			1	
ERBB4	0	LGGM	GRCh37	2	212543795	212543795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	18	6	.	.	ENST00000342788.4:c.1604C>T	p.Ser535Phe	p.S535F	ENST00000342788	NM_005235.2	535	tCt/tTt	0	1	1	UPI00000499DF	0	getma.org/pdb.php?prot=ERBB4_HUMAN&from=479&to=678&var=S535F	ENST00000342788		ENSG00000178568	3432		24	2.415		HGNC	p.S535F		ERBB4		SNV			1				ENST00000342788	protein_coding	getma.org/?cm=var&var=hg19,2,212543795,G,A&fts=all		Gene3D:2.10.220.10,Pfam_domain:PF14843,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,SMART_domains:SM00261,Superfamily_domains:SSF57184		S/F		A	medium	1915/12132		getma.org/?cm=msa&ty=f&p=ERBB4_HUMAN&rb=479&re=678&var=S535F	deleterious(0.05)	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,missense_variant,p.Ser535Phe,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Ser535Phe,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Ser535Phe,ENST00000402597,;ERBB4,missense_variant,p.Ser535Phe,ENST00000260943,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;							MODERATE	1604/3927	S535F	ERBB4_HUMAN			Transcript		benign(0.097)	.	ENSP00000342235		CCDS2394.1			1	
MYO3A	0	LGGM	GRCh37	10	26459410	26459410	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	6	.	.	ENST00000265944.5:c.3340A>T	p.Thr1114Ser	p.T1114S	ENST00000265944	NM_017433.4	1114	Aca/Tca	0	1	1	UPI000014140A	0	NA	ENST00000265944		ENSG00000095777	7601		20	0.55		HGNC	p.T1114S		MYO3A		SNV			1				ENST00000265944	protein_coding	getma.org/?cm=var&var=hg19,10,26459410,A,T&fts=all		hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140		T/S		T	neutral	3506/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=1102&re=1301&var=T1114S	tolerated(0.18)				YES	MYO3A,missense_variant,p.Thr1114Ser,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000477691,;							MODERATE	3340/4851	T1114S	MYO3A_HUMAN			Transcript		benign(0.017)	.	ENSP00000265944		CCDS7148.1			1	
LHX1	0	LGGM	GRCh37	17	35295611	35295611	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	38	6	.	.	ENST00000254457.5:c.117C>T	p.Thr39=	p.T39=	ENST00000254457	NM_005568.3	39	acC/acT	0	1	1	UPI000013CE37	0		ENST00000254457		ENSG00000132130	6593		44			HGNC	p.T39T		LHX1		SNV							ENST00000254457	protein_coding			PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716		T		T		1528/4121				Q58F18_HUMAN			YES	LHX1,synonymous_variant,p.=,ENST00000254457,NM_005568.3;RP11-445F12.1,upstream_gene_variant,,ENST00000525111,;RP11-445F12.1,upstream_gene_variant,,ENST00000532387,;RP11-445F12.1,upstream_gene_variant,,ENST00000529264,;RP11-445F12.2,downstream_gene_variant,,ENST00000607336,;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,upstream_gene_variant,,ENST00000559572,;							LOW	117/1221		LHX1_HUMAN			Transcript			.	ENSP00000254457		CCDS11316.1			1	
XKR7	0	LGGM	GRCh37	20	30584487	30584487	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	13	6	.	.	ENST00000562532.2:c.967G>A	p.Val323Ile	p.V323I	ENST00000562532	NM_001011718.1	323	Gtc/Atc	0	1	1	UPI00004C7A9E	0	NA	ENST00000562532		ENSG00000260903	23062		19	1.78		HGNC	p.V323I	rs781133344,COSM3963453	XKR7		SNV						0,1	ENST00000217299	protein_coding	getma.org/?cm=var&var=hg19,20,30584487,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815		V/I		A	low	1141/7844	1.53E-05	getma.org/?cm=msa&ty=f&p=XKR7_HUMAN&rb=56&re=442&var=V323I	tolerated(0.32)				YES	XKR7,missense_variant,p.Val323Ile,ENST00000562532,NM_001011718.1;					0,1		MODERATE	967/1740	V323I	XKR7_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000477059	8.24E-06	CCDS33459.1			1	
INO80D	0	LGGM	GRCh37	2	206869178	206869178	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	7	.	.	ENST00000403263.1:c.2998A>G	p.Ile1000Val	p.I1000V	ENST00000403263	NM_017759.4	1000	Ata/Gta	0	1	1	UPI0000EE35FC	0	NA	ENST00000403263		ENSG00000114933	25997		21	0.345		HGNC	p.I1000V	rs750804655,COSM86900	INO80D		SNV						0,1	ENST00000403263	protein_coding	getma.org/?cm=var&var=hg19,2,206869178,T,C&fts=all		hmmpanther:PTHR16198		I/V		C	neutral	3403/14136		getma.org/?cm=msa&ty=f&p=H2BNB9_HUMAN&rb=601&re=724&var=I697V	tolerated_low_confidence(0.25)	C9JLZ4_HUMAN,C9JLV2_HUMAN			YES	INO80D,missense_variant,p.Ile1000Val,ENST00000403263,NM_017759.4;AC007679.3,downstream_gene_variant,,ENST00000422116,;Vault,downstream_gene_variant,,ENST00000516676,;					0,1		MODERATE	2998/3084	I697V	IN80D_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000384198	8.27E-06	CCDS46500.1			1	
MYO18A	0	LGGM	GRCh37	17	27421002	27421002	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	23	7	.	.	ENST00000527372.1:c.4817A>G	p.Lys1606Arg	p.K1606R	ENST00000527372	NM_078471.3	1606	aAg/aGg	0	1	1	UPI0000167F32	0	NA	ENST00000527372		ENSG00000196535	31104		30	1.635		HGNC	p.K1606R		MYO18A		SNV							ENST00000531253	protein_coding	getma.org/?cm=var&var=hg19,17,27421002,T,C&fts=all		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil		K/R		C	low	4998/7597		getma.org/?cm=msa&ty=f&p=MY18A_HUMAN&rb=1248&re=1841&var=K1606R	tolerated(0.26)				YES	MYO18A,missense_variant,p.Lys1606Arg,ENST00000527372,NM_078471.3;MYO18A,missense_variant,p.Lys1606Arg,ENST00000354329,;MYO18A,missense_variant,p.Lys1606Arg,ENST00000531253,NM_203318.1;MYO18A,intron_variant,,ENST00000533112,;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000530557,;MYO18A,downstream_gene_variant,,ENST00000532143,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000533652,;							MODERATE	4817/6165	K1606R	MY18A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000437073		CCDS45642.1			1	
TUBA4A	0	LGGM	GRCh37	2	220115884	220115884	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	46	8	.	.	ENST00000248437.4:c.537A>G	p.Thr179=	p.T179=	ENST00000248437	NM_006000.2	179	acA/acG	0	1	1	UPI0000004129	0		ENST00000248437		ENSG00000127824	12407		54			HGNC	p.T164T		TUBA4A		SNV							ENST00000427737	protein_coding			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF75,SMART_domains:SM00864,Superfamily_domains:SSF52490		T		C		711/2162				C9JQ00_HUMAN,C9JEV8_HUMAN,C9JDS9_HUMAN,A8MUB1_HUMAN			YES	TUBA4A,synonymous_variant,p.=,ENST00000392088,NM_001278552.1;TUBA4A,synonymous_variant,p.=,ENST00000248437,NM_006000.2;TUBA4A,synonymous_variant,p.=,ENST00000427737,;TUBA4A,synonymous_variant,p.=,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,downstream_gene_variant,,ENST00000456818,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4A,downstream_gene_variant,,ENST00000425551,;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,;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,;TUBA4A,downstream_gene_variant,,ENST00000462806,;TUBA4A,downstream_gene_variant,,ENST00000475683,;STK16,downstream_gene_variant,,ENST00000491697,;STK16,downstream_gene_variant,,ENST00000461417,;							LOW	537/1347		TBA4A_HUMAN			Transcript			.	ENSP00000248437		CCDS2438.1			1	
POM121L12	0	LGGM	GRCh37	7	53104126	53104126	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	32	8	.	.	ENST00000408890.4:c.762C>T	p.Ser254=	p.S254=	ENST00000408890	NM_182595.3	254	tcC/tcT	0	1	1	UPI00001B6540	0		ENST00000408890		ENSG00000221900	25369		40			HGNC	p.S254S	rs565805558,COSM3265976	POM121L12	0.000606	SNV						0,1	ENST00000408890	protein_coding		T:0			S		T		778/1269					T:0	T:0	YES	POM121L12,synonymous_variant,p.=,ENST00000408890,NM_182595.3;		T:0.0002			0,1		LOW	762/891		P1L12_HUMAN		T:0	Transcript			common_variant	ENSP00000386133	8.27E-05	CCDS43584.1		T:0.001	1	
ZNRF3	0	LGGM	GRCh37	22	29438504	29438504	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	6	8	.	.	ENST00000544604.2:c.448G>T	p.Gly150Ter	p.G150*	ENST00000544604	NM_001206998.1	150	Gga/Tga	0	1	1	UPI0000EE5944	0	NA	ENST00000544604		ENSG00000183579	18126		14	0		HGNC	p.G50X		ZNRF3		SNV							ENST00000406323	protein_coding	getma.org/?cm=var&var=hg19,22,29438504,G,T&fts=all		hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200		G/*		T	NA	623/6851		NA					YES	ZNRF3,stop_gained,p.Gly150Ter,ENST00000544604,NM_001206998.1;ZNRF3,stop_gained,p.Gly50Ter,ENST00000332811,;ZNRF3,stop_gained,p.Gly50Ter,ENST00000406323,;ZNRF3,stop_gained,p.Gly50Ter,ENST00000402174,NM_032173.3;							HIGH	448/2811	G150*	ZNRF3_HUMAN			Transcript			.	ENSP00000443824		CCDS56225.1			1	
SORL1	0	LGGM	GRCh37	11	121391474	121391474	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	23	8	.	.	ENST00000260197.7:c.1320G>A	p.Ser440=	p.S440=	ENST00000260197	NM_003105.5	440	tcG/tcA	0	1	1	UPI000013D0B1	0		ENST00000260197		ENSG00000137642	11185		31			HGNC	p.S440S	rs533109160,COSM686810	SORL1	6.07E-05	SNV			1			0,1	ENST00000260197	protein_coding		A:0	Gene3D:2.130.10.140,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602,Superfamily_domains:SSF110296		S		A		1449/10904				E9PS32_HUMAN,E9PPB3_HUMAN	A:0	A:0.002	YES	SORL1,synonymous_variant,p.=,ENST00000260197,NM_003105.5;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;	0.00127	A:0.0004			0,1		LOW	1320/6645		SORL_HUMAN		A:0	Transcript			common_variant	ENSP00000260197	9.88E-05	CCDS8436.1		A:0	1	
CDC42BPB	0	LGGM	GRCh37	14	103432722	103432722	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	24	9	.	.	ENST00000361246.2:c.2474T>A	p.Val825Asp	p.V825D	ENST00000361246	NM_006035.3	825	gTc/gAc	0	1	1	UPI000013D27E	0	NA	ENST00000361246		ENSG00000198752	1738		33	2.44		HGNC	p.V825D		CDC42BPB		SNV							ENST00000361246	protein_coding	getma.org/?cm=var&var=hg19,14,103432722,A,T&fts=all		hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30		V/D		T	medium	2763/6758		getma.org/?cm=msa&ty=f&p=MRCKB_HUMAN&rb=818&re=877&var=V825D	deleterious(0)				YES	CDC42BPB,missense_variant,p.Val825Asp,ENST00000361246,NM_006035.3;CDC42BPB,missense_variant,p.Val99Asp,ENST00000559043,;							MODERATE	2474/5136	V825D	MRCKB_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000355237		CCDS9978.1			1	
DROSHA	0	LGGM	GRCh37	5	31493379	31493379	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	29	10	.	.	ENST00000344624.3:c.1777G>A	p.Glu593Lys	p.E593K	ENST00000344624		593	Gaa/Aaa	0	1		UPI0000134351	0	NA	ENST00000344624		ENSG00000113360	17904		39	0.515		HGNC	p.E556K		DROSHA		SNV							ENST00000442743	protein_coding	getma.org/?cm=var&var=hg19,5,31493379,C,T&fts=all		hmmpanther:PTHR11207		E/K		T	neutral	1824/5102		getma.org/?cm=msa&ty=f&p=RNC_HUMAN&rb=401&re=600&var=E593K	tolerated(0.49)	E5RHD1_HUMAN				DROSHA,missense_variant,p.Glu593Lys,ENST00000511367,NM_013235.4;DROSHA,missense_variant,p.Glu593Lys,ENST00000344624,;DROSHA,missense_variant,p.Glu556Lys,ENST00000442743,;DROSHA,missense_variant,p.Glu556Lys,ENST00000513349,NM_001100412.1;DROSHA,missense_variant,p.Glu355Lys,ENST00000512076,;DROSHA,upstream_gene_variant,,ENST00000512885,;							MODERATE	1777/4125	E593K	RNC_HUMAN			Transcript		benign(0.032)	.	ENSP00000339845		CCDS47195.1			1	
TMEM61	0	LGGM	GRCh37	1	55451998	55451998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	36	10	.	.	ENST00000371268.3:c.244C>A	p.Leu82Ile	p.L82I	ENST00000371268	NM_182532.1	82	Ctc/Atc	0	1	1	UPI00000361F8	0	NA	ENST00000371268		ENSG00000143001	27296		46	0.895		HGNC	p.L82I		TMEM61		SNV							ENST00000371268	protein_coding	getma.org/?cm=var&var=hg19,1,55451998,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF15105		L/I		A	low	518/1097		getma.org/?cm=msa&ty=f&p=TMM61_HUMAN&rb=2&re=208&var=L82I	tolerated(0.06)				YES	TMEM61,missense_variant,p.Leu82Ile,ENST00000371268,NM_182532.1;RP11-12C17.2,intron_variant,,ENST00000436960,;							MODERATE	244/633	L82I	TMM61_HUMAN			Transcript		benign(0.031)	.	ENSP00000360315		CCDS601.1			1	
KRT6C	0	LGGM	GRCh37	12	52864319	52864319	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	37	10	.	.	ENST00000252250.6:c.1173G>A	p.Leu391=	p.L391=	ENST00000252250	NM_173086.4	391	ctG/ctA	0	1	1	UPI00001AE73F	0		ENST00000252250		ENSG00000170465	20406		47			HGNC	p.L391L		KRT6C		SNV			1				ENST00000252250	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038		L		T		1221/2289							YES	KRT6C,synonymous_variant,p.=,ENST00000252250,NM_173086.4;KRT6C,non_coding_transcript_exon_variant,,ENST00000553087,;							LOW	1173/1695		K2C6C_HUMAN			Transcript			.	ENSP00000252250		CCDS8829.1			1	
XIRP2	0	LGGM	GRCh37	2	168100858	168100858	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	32	11	.	.	ENST00000409195.1:c.2956A>T	p.Thr986Ser	p.T986S	ENST00000409195	NM_152381.5	986	Aca/Tca	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		43	1.995		HGNC	p.T764S		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168100858,A,T&fts=all		PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		T/S		T	medium	3045/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=748&re=836&var=T811S		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Thr986Ser,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Thr986Ser,ENST00000295237,;XIRP2,missense_variant,p.Thr764Ser,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;							MODERATE	2956/10650	T811S				Transcript		possibly_damaging(0.851)	.	ENSP00000386840		CCDS42769.1			1	
CRYZL1	0	LGGM	GRCh37	21	34985888	34985888	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	36	12	.	.	ENST00000381554.3:c.287A>T	p.Asp96Val	p.D96V	ENST00000381554	NM_145858.2	96	gAc/gTc	0	1	1	UPI0000038C61	0	getma.org/pdb.php?prot=QORL1_HUMAN&from=30&to=144&var=D96V	ENST00000381554		ENSG00000205758	2420		48	0.75		HGNC	p.D96V		CRYZL1		SNV							ENST00000431177	protein_coding	getma.org/?cm=var&var=hg19,21,34985888,T,A&fts=all		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF10,SMART_domains:SM00829,Superfamily_domains:SSF50129		D/V		A	neutral	373/1617		getma.org/?cm=msa&ty=f&p=QORL1_HUMAN&rb=30&re=144&var=D96V	tolerated(0.5)	C9K0F7_HUMAN,C9JQD0_HUMAN,C9JAL0_HUMAN			YES	CRYZL1,missense_variant,p.Asp120Val,ENST00000361534,;CRYZL1,missense_variant,p.Asp81Val,ENST00000290244,;CRYZL1,missense_variant,p.Asp96Val,ENST00000381554,NM_145858.2;CRYZL1,missense_variant,p.Asp96Val,ENST00000381540,;CRYZL1,missense_variant,p.Asp40Val,ENST00000440526,;CRYZL1,missense_variant,p.Asp44Val,ENST00000426935,;CRYZL1,missense_variant,p.Asp96Val,ENST00000431177,;CRYZL1,missense_variant,p.Asp44Val,ENST00000417979,;CRYZL1,intron_variant,,ENST00000445393,;AP000304.12,intron_variant,,ENST00000429238,;CRYZL1,downstream_gene_variant,,ENST00000413017,;CRYZL1,missense_variant,p.Asp96Val,ENST00000420072,;CRYZL1,missense_variant,p.Asp81Val,ENST00000429827,;CRYZL1,non_coding_transcript_exon_variant,,ENST00000490714,;CRYZL1,non_coding_transcript_exon_variant,,ENST00000488167,;CRYZL1,upstream_gene_variant,,ENST00000452420,;							MODERATE	287/1050	D96V	QORL1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000370966		CCDS13633.2			1	
BRINP3	0	LGGM	GRCh37	1	190067999	190067999	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	52	12	.	.	ENST00000367462.3:c.1450C>T	p.His484Tyr	p.H484Y	ENST00000367462	NM_199051.1	484	Cac/Tac	0	1	1	UPI00001C1D9A	0	NA	ENST00000367462		ENSG00000162670	22393		64	1.24		HGNC	p.H484Y	COSM1689446	BRINP3		SNV						1	ENST00000367462	protein_coding	getma.org/?cm=var&var=hg19,1,190067999,G,A&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		H/Y		A	low	1682/2889		getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=400&re=599&var=H484Y	deleterious(0.04)				YES	BRINP3,missense_variant,p.His484Tyr,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.His382Tyr,ENST00000534846,;					1		MODERATE	1450/2301	H484Y	BRNP3_HUMAN			Transcript		benign(0.335)	.	ENSP00000356432		CCDS1373.1			1	
PDCD2L	0	LGGM	GRCh37	19	34900168	34900168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	23	14	.	.	ENST00000246535.3:c.439G>A	p.Gly147Arg	p.G147R	ENST00000246535	NM_032346.1	147	Ggg/Agg	0	1	1	UPI0000038A65	0	NA	ENST00000246535		ENSG00000126249	28194		37	1.935		HGNC	p.G147R		PDCD2L		SNV							ENST00000246535	protein_coding	getma.org/?cm=var&var=hg19,19,34900168,G,A&fts=all		hmmpanther:PTHR12298		G/R		A	medium	486/1171		getma.org/?cm=msa&ty=f&p=PDD2L_HUMAN&rb=1&re=179&var=G147R	tolerated(0.08)	U3KQL1_HUMAN			YES	PDCD2L,missense_variant,p.Gly147Arg,ENST00000246535,NM_032346.1;RP11-618P17.4,missense_variant,p.Gly176Arg,ENST00000592740,;PDCD2L,intron_variant,,ENST00000587065,;RP11-618P17.4,downstream_gene_variant,,ENST00000606020,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000587385,;PDCD2L,non_coding_transcript_exon_variant,,ENST00000585821,;							MODERATE	439/1077	G147R	PDD2L_HUMAN			Transcript		benign(0.008)	.	ENSP00000246535		CCDS12438.1			1	
MAOB	0	LGGM	GRCh37	X	43652806	43652806	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	14	.	.	ENST00000378069.4:c.788C>G	p.Ala263Gly	p.A263G	ENST00000378069	NM_000898.4	263	gCt/gGt	0	1	1	UPI0000049071	0	getma.org/pdb.php?prot=AOFB_HUMAN&from=14&to=451&var=A263G	ENST00000378069		ENSG00000069535	6834		28	3.785		HGNC	p.A263G		MAOB		SNV							ENST00000378069	protein_coding	getma.org/?cm=var&var=hg19,X,43652806,G,C&fts=all		hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF51905		A/G		C	high	936/2566		getma.org/?cm=msa&ty=f&p=AOFB_HUMAN&rb=14&re=451&var=A263G	deleterious(0)	H0YCD8_HUMAN,B7Z242_HUMAN			YES	MAOB,missense_variant,p.Ala263Gly,ENST00000378069,NM_000898.4;MAOB,missense_variant,p.Ala247Gly,ENST00000536181,;MAOB,missense_variant,p.Ala247Gly,ENST00000538942,;MAOB,downstream_gene_variant,,ENST00000487544,;							MODERATE	788/1563	A263G	AOFB_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000367309		CCDS14261.1			1	
NAP1L3	0	LGGM	GRCh37	X	92927549	92927549	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	14	14	.	.	ENST00000373079.3:c.755C>T	p.Pro252Leu	p.P252L	ENST00000373079	NM_004538.5	252	cCt/cTt	0	1	1	UPI0000167B31	0	NA	ENST00000373079		ENSG00000186310	7639		28	0.69		HGNC	p.P252L		NAP1L3		SNV							ENST00000373079	protein_coding	getma.org/?cm=var&var=hg19,X,92927549,G,A&fts=all		Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38		P/L		A	neutral	1019/2639		getma.org/?cm=msa&ty=f&p=NP1L3_HUMAN&rb=205&re=488&var=P252L	deleterious_low_confidence(0)				YES	NAP1L3,missense_variant,p.Pro252Leu,ENST00000373079,NM_004538.5;NAP1L3,missense_variant,p.Pro245Leu,ENST00000475430,;FAM133A,upstream_gene_variant,,ENST00000538690,NM_001171110.1;FAM133A,upstream_gene_variant,,ENST00000355813,NM_173698.2,NM_001171109.1;FAM133A,upstream_gene_variant,,ENST00000322139,NM_001171111.1;FAM133A,upstream_gene_variant,,ENST00000332647,;							MODERATE	755/1521	P252L	NP1L3_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000362171		CCDS14465.1			1	
NEB	0	LGGM	GRCh37	2	152553219	152553219	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	58	15	.	.	ENST00000397345.3:c.1501A>G	p.Lys501Glu	p.K501E	ENST00000397345	NM_001164508.1	501	Aaa/Gaa	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		73	2.215		HGNC	p.K501E		NEB		SNV			1				ENST00000409198	protein_coding	getma.org/?cm=var&var=hg19,2,152553219,T,C&fts=all		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37		K/E		C	medium	1649/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=397&re=506&var=K501E		J3QK84_HUMAN				NEB,missense_variant,p.Lys501Glu,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Lys501Glu,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Lys501Glu,ENST00000603639,;NEB,missense_variant,p.Lys501Glu,ENST00000604864,;NEB,missense_variant,p.Lys501Glu,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Lys501Glu,ENST00000172853,;NEB,non_coding_transcript_exon_variant,,ENST00000489048,;							MODERATE	1501/20010	K501E				Transcript		probably_damaging(0.992)	.	ENSP00000172853					1	
SCMH1	0	LGGM	GRCh37	1	41514496	41514496	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	33	15	.	.	ENST00000402904.2:c.1142del	p.Leu381ProfsTer98	p.L381Pfs*98	ENST00000402904	NM_001031694.2	381	cTc/cc	0	1		UPI000006FD9B	0		ENST00000326197		ENSG00000010803	19003		48			HGNC	p.L320fs		SCMH1		deletion							ENST00000397171	protein_coding			hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68,Pfam_domain:PF12140		L/X		-		1442/3275								SCMH1,frameshift_variant,p.Leu381ProfsTer98,ENST00000402904,NM_001031694.2;SCMH1,frameshift_variant,p.Leu320ProfsTer98,ENST00000372596,NM_001172218.1;SCMH1,frameshift_variant,p.Leu361ProfsTer98,ENST00000397174,;SCMH1,frameshift_variant,p.Leu381ProfsTer98,ENST00000326197,;SCMH1,frameshift_variant,p.Leu334ProfsTer98,ENST00000372597,NM_012236.3,NM_001172220.1;SCMH1,frameshift_variant,p.Leu320ProfsTer98,ENST00000372595,NM_001172221.1;SCMH1,frameshift_variant,p.Leu320ProfsTer98,ENST00000397171,;SCMH1,frameshift_variant,p.Leu334ProfsTer98,ENST00000361705,;SCMH1,frameshift_variant,p.Leu391ProfsTer98,ENST00000337495,NM_001172219.1;SCMH1,frameshift_variant,p.Leu320ProfsTer98,ENST00000361191,;SCMH1,frameshift_variant,p.Leu223ProfsTer98,ENST00000456518,NM_001172222.1;SCMH1,non_coding_transcript_exon_variant,,ENST00000482530,;SCMH1,upstream_gene_variant,,ENST00000489421,;SCMH1,upstream_gene_variant,,ENST00000498793,;SCMH1,upstream_gene_variant,,ENST00000460215,;							HIGH	1142/1983		SCMH1_HUMAN			Transcript			.	ENSP00000318094		CCDS30688.1			1	
MTA2	0	LGGM	GRCh37	11	62362002	62362002	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	73	16	.	.	ENST00000278823.2:c.1678C>T	p.Arg560Trp	p.R560W	ENST00000278823	NM_004739.3	560	Cgg/Tgg	0	1	1	UPI000012F743	0	NA	ENST00000278823		ENSG00000149480	7411		89	2.305		HGNC	p.R387W	rs750362468,COSM1286292	MTA2		SNV						0,1	ENST00000527204	protein_coding	getma.org/?cm=var&var=hg19,11,62362002,G,A&fts=all		hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865		R/W		A	medium	2068/3058	0.00012	getma.org/?cm=msa&ty=f&p=MTA2_HUMAN&rb=405&re=604&var=R560W	deleterious_low_confidence(0)	Q68DB1_HUMAN			YES	MTA2,missense_variant,p.Arg560Trp,ENST00000278823,NM_004739.3;MTA2,missense_variant,p.Arg387Trp,ENST00000524902,;MTA2,missense_variant,p.Arg387Trp,ENST00000527204,;TUT1,upstream_gene_variant,,ENST00000476907,;TUT1,upstream_gene_variant,,ENST00000308436,NM_022830.2;TUT1,upstream_gene_variant,,ENST00000494385,;TUT1,upstream_gene_variant,,ENST00000278279,;MIR3654,upstream_gene_variant,,ENST00000496634,;TUT1,upstream_gene_variant,,ENST00000478537,;MTA2,downstream_gene_variant,,ENST00000526844,;MTA2,downstream_gene_variant,,ENST00000531179,;MTA2,downstream_gene_variant,,ENST00000531261,;MTA2,downstream_gene_variant,,ENST00000532239,;					0,1		MODERATE	1678/2007	R560W	MTA2_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000278823	6.59E-05	CCDS8022.1			1	
C6orf106	0	LGGM	GRCh37	6	34614466	34614466	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060566	H060566N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	93	18	.	.	ENST00000374023.3:c.423T>C	p.Asp141=	p.D141=	ENST00000374023	NM_024294.2	141	gaT/gaC	0	1	1	UPI000006F934	0		ENST00000374023		ENSG00000196821	21215		111			HGNC	p.D141D		C6orf106		SNV							ENST00000374023	protein_coding			hmmpanther:PTHR20930		D		G		667/4418				Q5TH58_HUMAN			YES	C6orf106,synonymous_variant,p.=,ENST00000374023,NM_024294.2;C6orf106,synonymous_variant,p.=,ENST00000374021,;C6orf106,intron_variant,,ENST00000374026,NM_022758.4;							LOW	423/897		CF106_HUMAN			Transcript			.	ENSP00000363135		CCDS4796.1			1	
ACVR2A	0	LGGM	GRCh37	2	148683713	148683713	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	45	19	.	.	ENST00000241416.7:c.1330T>G	p.Tyr444Asp	p.Y444D	ENST00000241416	NM_001616.4	444	Tat/Gat	0	1	1	UPI0000126673	0	getma.org/pdb.php?prot=AVR2A_HUMAN&from=192&to=479&var=Y444D	ENST00000241416		ENSG00000121989	173		64	-0.27		HGNC	p.Y444D		ACVR2A		SNV							ENST00000241416	protein_coding	getma.org/?cm=var&var=hg19,2,148683713,T,G&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64,PROSITE_profiles:PS50011		Y/D		G	neutral	1966/5728		getma.org/?cm=msa&ty=f&p=AVR2A_HUMAN&rb=192&re=479&var=Y444D	tolerated(0.2)	B4DWQ2_HUMAN			YES	ACVR2A,missense_variant,p.Tyr444Asp,ENST00000241416,NM_001616.4,NM_001278579.1;ACVR2A,missense_variant,p.Tyr444Asp,ENST00000404590,;ACVR2A,missense_variant,p.Tyr336Asp,ENST00000535787,NM_001278580.1;ORC4,downstream_gene_variant,,ENST00000392857,NM_001190882.2,NM_002552.4,NM_001190879.2,NM_181741.3;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;							MODERATE	1330/1542	Y444D	AVR2A_HUMAN			Transcript		benign(0)	.	ENSP00000241416		CCDS33301.1			1	
TTN	0	LGGM	GRCh37	2	179481279	179481279	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060566	H060566N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	82	21	.	.	ENST00000589042.1:c.48239A>G	p.Asp16080Gly	p.D16080G	ENST00000589042	NM_001267550.1	16080	gAt/gGt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=14416&to=14500&var=D14439G	ENST00000591111		ENSG00000155657	12403	8.71E-05	103	0.67		HGNC	p.D7140G	rs775135961	TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179481279,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		D/G		C	neutral	43541/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=14416&re=14500&var=D14439G		C9JQJ2_HUMAN				TTN,missense_variant,p.Asp16080Gly,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Asp14439Gly,ENST00000591111,;TTN,missense_variant,p.Asp13512Gly,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Asp7207Gly,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Asp7140Gly,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Asp7015Gly,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,,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,;							MODERATE	43316/103053	D14439G	TITIN_HUMAN			Transcript			.	ENSP00000465570	8.28E-06				1	
ROBO3	0	LGGM	GRCh37	11	124740060	124740060	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060566	H060566N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	95	26	.	.	ENST00000397801.1:c.767-1G>A		p.X256_splice	ENST00000397801	NM_022370.3			0	1	1	UPI000035AA82	0		ENST00000397801		ENSG00000154134	13433		121			HGNC	-		ROBO3		SNV			1				ENST00000397801	protein_coding							A		-/4569				Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN			YES	ROBO3,splice_acceptor_variant,,ENST00000397801,NM_022370.3;ROBO3,splice_acceptor_variant,,ENST00000538940,;							HIGH	767/4161		ROBO3_HUMAN			Transcript			.	ENSP00000380903		CCDS44755.1			1	
MAP1B	0	LGGM	GRCh37	5	71496006	71496006	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060566	H060566N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060566N.bam, H060566T.bam	Illumina HiSeq	94	44	.	.	ENST00000296755.7:c.6824C>G	p.Ala2275Gly	p.A2275G	ENST00000296755	NM_005909.3	2275	gCg/gGg	0	1	1	UPI000013E382	0	NA	ENST00000296755		ENSG00000131711	6836		138	0.235		HGNC	p.A2275G		MAP1B		SNV							ENST00000296755	protein_coding	getma.org/?cm=var&var=hg19,5,71496006,C,G&fts=all		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		A/G		G	neutral	7122/12034		getma.org/?cm=msa&ty=f&p=MAP1B_HUMAN&rb=2082&re=2466&var=A2275G		D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,missense_variant,p.Ala2275Gly,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							MODERATE	6824/7407	A2275G	MAP1B_HUMAN			Transcript		benign(0.016)	.	ENSP00000296755		CCDS4012.1			1	
CREBBP	0	LGGM	GRCh37	16	3778365	3778365	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	0	2	.	.	ENST00000262367.5:c.6683A>T	p.His2228Leu	p.H2228L	ENST00000262367	NM_004380.2	2228	cAc/cTc	0	1	1	UPI0000000620	0	NA	ENST00000262367		ENSG00000005339	2348		2	0.895		HGNC	p.H2190L		CREBBP		SNV			1				ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3778365,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		H/L		A	low	7493/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=2116&re=2315&var=H2228L		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			YES	CREBBP,missense_variant,p.His2228Leu,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.His2190Leu,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000576720,;CREBBP,downstream_gene_variant,,ENST00000571763,;							MODERATE	6683/7329	H2228L	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
ZNF358	0	LGGM	GRCh37	19	7584935	7584935	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	2	2	.	.	ENST00000597229.1:c.807C>A	p.Ala269=	p.A269=	ENST00000597229	NM_018083.4	269	gcC/gcA	0	1		UPI0000201F0C	0		ENST00000394341		ENSG00000198816	16838		4			HGNC	p.A269A		ZNF358		SNV							ENST00000394341	protein_coding			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		A		A		848/1824				M0R2S5_HUMAN				ZNF358,synonymous_variant,p.=,ENST00000597229,NM_018083.4;ZNF358,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000602083,;MCOLN1,upstream_gene_variant,,ENST00000394321,;MCOLN1,upstream_gene_variant,,ENST00000596390,;CTD-2207O23.12,downstream_gene_variant,,ENST00000597384,;							LOW	807/1707		ZN358_HUMAN			Transcript			.	ENSP00000377873		CCDS32890.2			1	
FGG	0	LGGM	GRCh37	4	155533343	155533343	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	2	.	.	ENST00000336098.3:c.134G>C	p.Cys45Ser	p.C45S	ENST00000336098	NM_021870.2	45	tGt/tCt	0	1	1	UPI000012A78D	0	getma.org/pdb.php?prot=FIBG_HUMAN&from=29&to=173&var=C45S	ENST00000336098		ENSG00000171557	3694		25	2.54		HGNC	p.C45S		FGG		SNV			1				ENST00000336098	protein_coding	getma.org/?cm=var&var=hg19,4,155533343,C,G&fts=all		Superfamily_domains:SSF58010,Pfam_domain:PF08702,Gene3D:1.20.5.50,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22		C/S		G	medium	173/1659		getma.org/?cm=msa&ty=f&p=FIBG_HUMAN&rb=29&re=173&var=C45S	deleterious(0)	C9JU00_HUMAN,C9JPQ9_HUMAN			YES	FGG,missense_variant,p.Cys45Ser,ENST00000404648,NM_000509.4;FGG,missense_variant,p.Cys45Ser,ENST00000336098,NM_021870.2;FGG,missense_variant,p.Cys45Ser,ENST00000407946,;FGG,missense_variant,p.Cys45Ser,ENST00000405164,;FGG,5_prime_UTR_variant,,ENST00000393846,;FGG,intron_variant,,ENST00000443553,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000473393,;FGG,non_coding_transcript_exon_variant,,ENST00000465336,;FGG,non_coding_transcript_exon_variant,,ENST00000464532,;FGG,non_coding_transcript_exon_variant,,ENST00000484695,;FGG,upstream_gene_variant,,ENST00000465913,;							MODERATE	134/1362	C45S	FIBG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000336829		CCDS3788.1			1	
NFE2L1	0	LGGM	GRCh37	17	46134456	46134456	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	11	2	.	.	ENST00000362042.3:c.786C>A	p.Ala262=	p.A262=	ENST00000362042	NM_003204.2	262	gcC/gcA	0	1	1	UPI000012FFCF	0		ENST00000362042		ENSG00000082641	7781		13			HGNC	p.A262A		NFE2L1		SNV							ENST00000362042	protein_coding			hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411		A		A		1402/4774				Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN			YES	NFE2L1,synonymous_variant,p.=,ENST00000362042,NM_003204.2;NFE2L1,synonymous_variant,p.=,ENST00000361665,;NFE2L1,5_prime_UTR_variant,,ENST00000584634,;NFE2L1,intron_variant,,ENST00000357480,;NFE2L1,intron_variant,,ENST00000585291,;NFE2L1,intron_variant,,ENST00000536222,;NFE2L1,intron_variant,,ENST00000583378,;NFE2L1,intron_variant,,ENST00000582155,;NFE2L1,intron_variant,,ENST00000580037,;NFE2L1,intron_variant,,ENST00000577431,;NFE2L1,intron_variant,,ENST00000577411,;NFE2L1,intron_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;							LOW	786/2319		NF2L1_HUMAN			Transcript			.	ENSP00000354855		CCDS11524.1			1	
GGN	0	LGGM	GRCh37	19	38876140	38876140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	6	2	.	.	ENST00000334928.6:c.1762G>T	p.Val588Leu	p.V588L	ENST00000334928	NM_152657.3	588	Gtg/Ttg	0	1	1	UPI0000073CAB	0	NA	ENST00000334928		ENSG00000179168	18869		8	0.895		HGNC	p.R456L		GGN		SNV							ENST00000585737	protein_coding	getma.org/?cm=var&var=hg19,19,38876140,C,A&fts=all				V/L		A	low	1895/2239		getma.org/?cm=msa&ty=f&p=GGN_HUMAN&rb=235&re=650&var=V588L	deleterious_low_confidence(0.02)	K7ENT5_HUMAN,K7EJI6_HUMAN			YES	GGN,missense_variant,p.Val588Leu,ENST00000334928,NM_152657.3;PSMD8,downstream_gene_variant,,ENST00000592035,;PSMD8,downstream_gene_variant,,ENST00000215071,NM_002812.4;SPRED3,upstream_gene_variant,,ENST00000587013,;SPRED3,upstream_gene_variant,,ENST00000338502,NM_001042522.2;SPRED3,upstream_gene_variant,,ENST00000586301,;PSMD8,downstream_gene_variant,,ENST00000602911,;PSMD8,downstream_gene_variant,,ENST00000592561,;SPRED3,upstream_gene_variant,,ENST00000587947,;PSMD8,downstream_gene_variant,,ENST00000585598,;GGN,downstream_gene_variant,,ENST00000587676,;GGN,downstream_gene_variant,,ENST00000586599,;AC005789.9,upstream_gene_variant,,ENST00000585411,;GGN,splice_region_variant,,ENST00000591809,;SPRED3,upstream_gene_variant,,ENST00000587564,;GGN,missense_variant,p.Arg456Leu,ENST00000585737,;PSMD8,downstream_gene_variant,,ENST00000592001,;SPRED3,upstream_gene_variant,,ENST00000586958,;PSMD8,downstream_gene_variant,,ENST00000590331,;							MODERATE	1762/1959	V588L	GGN_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000334940		CCDS12516.1			1	
TBC1D21	0	LGGM	GRCh37	15	74174061	74174061	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	15	2	.	.	ENST00000300504.2:c.245A>G	p.Glu82Gly	p.E82G	ENST00000300504	NM_153356.1	82	gAg/gGg	0	1	1	UPI00000741CB	0	NA	ENST00000300504		ENSG00000167139	28536		17	1.385		HGNC	p.E82G		TBC1D21		SNV							ENST00000562056	protein_coding	getma.org/?cm=var&var=hg19,15,74174061,A,G&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF258,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		E/G		G	low	328/1207		getma.org/?cm=msa&ty=f&p=TBC21_HUMAN&rb=60&re=287&var=E82G	deleterious(0)				YES	TBC1D21,missense_variant,p.Glu82Gly,ENST00000300504,NM_153356.1;TBC1D21,missense_variant,p.Glu46Gly,ENST00000535547,NM_001286434.1;TBC1D21,missense_variant,p.Glu82Gly,ENST00000562056,;							MODERATE	245/1011	E82G	TBC21_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000300504		CCDS10252.1			1	
RPP40	0	LGGM	GRCh37	6	5004147	5004147	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	5	2	.	.	ENST00000380051.2:c.90G>A	p.Arg30=	p.R30=	ENST00000380051	NM_006638.2	30	cgG/cgA	0	1	1	UPI000020E473	0		ENST00000380051		ENSG00000124787	20992		7			HGNC	p.R30R	COSM1080117	RPP40		SNV						1	ENST00000319533	protein_coding			hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1		R		T		135/1483							YES	RPP40,synonymous_variant,p.=,ENST00000380051,NM_006638.2;RPP40,synonymous_variant,p.=,ENST00000319533,NM_001286132.1;RPP40,upstream_gene_variant,,ENST00000464646,;RPP40,synonymous_variant,p.=,ENST00000479782,;RPP40,non_coding_transcript_exon_variant,,ENST00000483546,;RPP40,non_coding_transcript_exon_variant,,ENST00000468105,;					1		LOW	90/1092		RPP40_HUMAN			Transcript			.	ENSP00000369391		CCDS34333.1			1	
SF3A1	0	LGGM	GRCh37	22	30736218	30736218	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	6	2	.	.	ENST00000215793.8:c.1342G>T	p.Glu448Ter	p.E448*	ENST00000215793	NM_005877.4	448	Gag/Tag	0	1	1	UPI0000000C88	0	NA	ENST00000215793		ENSG00000099995	10765		8	0		HGNC	p.E448X		SF3A1		SNV							ENST00000215793	protein_coding	getma.org/?cm=var&var=hg19,22,30736218,C,A&fts=all		Pfam_domain:PF12230,hmmpanther:PTHR15316		E/*		A	NA	1497/5143		NA					YES	SF3A1,stop_gained,p.Glu448Ter,ENST00000215793,NM_005877.4;SF3A1,stop_gained,p.Glu383Ter,ENST00000439242,NM_001005409.1;SF3A1,stop_gained,p.Glu144Ter,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,;							HIGH	1342/2382	E448*	SF3A1_HUMAN			Transcript			.	ENSP00000215793		CCDS13875.1			1	
PSMC3	0	LGGM	GRCh37	11	47440722	47440722	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	3	.	.	ENST00000298852.3:c.1154C>T	p.Ala385Val	p.A385V	ENST00000298852	NM_002804.4	385	gCc/gTc	0	1	1	UPI0000132389	0	getma.org/pdb.php?prot=PRS6A_HUMAN&from=357&to=439&var=A385V	ENST00000298852		ENSG00000165916	9549		38	2.765		HGNC	p.A343V		PSMC3		SNV							ENST00000530912	protein_coding	getma.org/?cm=var&var=hg19,11,47440722,G,A&fts=all		hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF7,Gene3D:1.10.8.60,TIGRFAM_domain:TIGR01242,Superfamily_domains:SSF52540		A/V		A	medium	1312/1544		getma.org/?cm=msa&ty=f&p=PRS6A_HUMAN&rb=357&re=439&var=A385V	deleterious(0.04)	R4GNH3_HUMAN			YES	PSMC3,missense_variant,p.Ala385Val,ENST00000298852,NM_002804.4;PSMC3,missense_variant,p.Ala343Val,ENST00000530912,;PSMC3,missense_variant,p.Ala369Val,ENST00000602866,;SLC39A13,downstream_gene_variant,,ENST00000524928,;SLC39A13,downstream_gene_variant,,ENST00000362021,NM_001128225.2;SLC39A13,downstream_gene_variant,,ENST00000354884,NM_152264.4;SLC39A13,downstream_gene_variant,,ENST00000533076,;PSMC3,downstream_gene_variant,,ENST00000524447,;PSMC3,downstream_gene_variant,,ENST00000530651,;SLC39A13,downstream_gene_variant,,ENST00000531865,;PSMC3,downstream_gene_variant,,ENST00000531051,;PSMC3,downstream_gene_variant,,ENST00000526993,;SLC39A13,downstream_gene_variant,,ENST00000527829,;SLC39A13,downstream_gene_variant,,ENST00000528979,;SLC39A13,downstream_gene_variant,,ENST00000524886,;PSMC3,downstream_gene_variant,,ENST00000530887,;PSMC3,downstream_gene_variant,,ENST00000527906,;							MODERATE	1154/1320	A385V	PRS6A_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000298852		CCDS7935.1			1	
FMN1	0	LGGM	GRCh37	15	33446886	33446886	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	8	3	.	.	ENST00000320930.7:c.230A>G	p.Gln77Arg	p.Q77R	ENST00000320930	NM_001277314.1	77	cAg/cGg	0	1	1	UPI0001AE68B4	0	NA	ENST00000559047		ENSG00000248905	3768		11	0.805		HGNC	p.Q77R		FMN1		SNV							ENST00000559047	protein_coding	getma.org/?cm=var&var=hg19,15,33446886,T,C&fts=all		hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037		Q/R		C	low	230/4260		getma.org/?cm=msa&ty=f&p=H0YM30_HUMAN&rb=1&re=200&var=Q77R						FMN1,missense_variant,p.Gln77Arg,ENST00000559047,NM_001277313.1;FMN1,missense_variant,p.Gln77Arg,ENST00000561249,;FMN1,missense_variant,p.Gln77Arg,ENST00000320930,NM_001277314.1;							MODERATE	230/4260	Q77R	FMN1_HUMAN			Transcript		unknown(0)	.	ENSP00000454047		CCDS61581.1			1	
HABP2	0	LGGM	GRCh37	10	115337837	115337837	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	43	3	.	.	ENST00000351270.3:c.501G>A	p.Arg167=	p.R167=	ENST00000351270	NM_004132.3	167	cgG/cgA	0	1	1	UPI0000049411	0		ENST00000351270		ENSG00000148702	4798		46			HGNC	p.G156D		HABP2		SNV							ENST00000537906	protein_coding			PROSITE_profiles:PS50026,hmmpanther:PTHR24272:SF5,hmmpanther:PTHR24272,Pfam_domain:PF00008,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179		R		A		597/3009							YES	HABP2,missense_variant,p.Gly156Asp,ENST00000537906,;HABP2,synonymous_variant,p.=,ENST00000351270,NM_004132.3;HABP2,synonymous_variant,p.=,ENST00000542051,NM_001177660.1;HABP2,synonymous_variant,p.=,ENST00000541666,;							LOW	501/1683		HABP2_HUMAN			Transcript			.	ENSP00000277903		CCDS7577.1			1	
SLC16A5	0	LGGM	GRCh37	17	73096908	73096908	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	5	3	.	.	ENST00000450736.2:c.1150G>A	p.Ala384Thr	p.A384T	ENST00000450736		384	Gcc/Acc	0	1		UPI0000000DC7	0	NA	ENST00000329783		ENSG00000170190	10926		8	2.03		HGNC	p.A384T		SLC16A5		SNV							ENST00000580123	protein_coding	getma.org/?cm=var&var=hg19,17,73096908,G,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF21,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00892,Superfamily_domains:SSF103473		A/T		A	medium	1437/1934		getma.org/?cm=msa&ty=f&p=MOT6_HUMAN&rb=236&re=488&var=A384T	tolerated(0.1)	J3QQW5_HUMAN,J3QL40_HUMAN,J3KT93_HUMAN				SLC16A5,missense_variant,p.Ala384Thr,ENST00000450736,;SLC16A5,missense_variant,p.Ala384Thr,ENST00000580123,NM_001271765.1;SLC16A5,missense_variant,p.Ala384Thr,ENST00000329783,NM_004695.3;SLC16A5,missense_variant,p.Ala424Thr,ENST00000538213,;SLC16A5,missense_variant,p.Ala384Thr,ENST00000578376,;SLC16A5,downstream_gene_variant,,ENST00000584118,;SLC16A5,downstream_gene_variant,,ENST00000584207,;SLC16A5,downstream_gene_variant,,ENST00000585293,;SLC16A5,downstream_gene_variant,,ENST00000582048,;							MODERATE	1150/1518	A384T	MOT6_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000330141		CCDS11713.1			1	
KRT37	0	LGGM	GRCh37	17	39580071	39580071	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	3	.	.	ENST00000225550.3:c.518C>T	p.Ala173Val	p.A173V	ENST00000225550	NM_003770.4	173	gCc/gTc	0	1	1	UPI000000DC9A	0	NA	ENST00000225550		ENSG00000108417	6455		38	2.615		HGNC	p.A173V	COSM4066354	KRT37		SNV						1	ENST00000225550	protein_coding	getma.org/?cm=var&var=hg19,17,39580071,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF148		A/V		A	medium	518/1475		getma.org/?cm=msa&ty=f&p=KRT37_HUMAN&rb=103&re=414&var=A173V	deleterious(0.01)				YES	KRT37,missense_variant,p.Ala173Val,ENST00000225550,NM_003770.4;AC003958.2,non_coding_transcript_exon_variant,,ENST00000432258,;					1		MODERATE	518/1350	A173V	KRT37_HUMAN			Transcript		benign(0.012)	.	ENSP00000225550		CCDS32653.1			1	
PLXNA4	0	LGGM	GRCh37	7	132192567	132192567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	3	.	.	ENST00000359827.3:c.886G>T	p.Val296Leu	p.V296L	ENST00000359827		296	Gtg/Ttg	0	1		UPI000004E55B	0	getma.org/pdb.php?prot=PLXA4_HUMAN&from=51&to=490&var=V296L	ENST00000321063		ENSG00000221866	9102	0.000346	26	0		HGNC	p.V296L	rs763894222	PLXNA4		SNV							ENST00000378539	protein_coding	getma.org/?cm=var&var=hg19,7,132192567,C,A&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		V/L		A	neutral	1115/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=51&re=490&var=V296L	tolerated(0.8)					PLXNA4,missense_variant,p.Val296Leu,ENST00000359827,;PLXNA4,missense_variant,p.Val296Leu,ENST00000321063,NM_020911.1;PLXNA4,missense_variant,p.Val296Leu,ENST00000423507,NM_001105543.1;PLXNA4,missense_variant,p.Val296Leu,ENST00000378539,NM_181775.3;							MODERATE	886/5685	V296L	PLXA4_HUMAN			Transcript		benign(0.01)	.	ENSP00000323194	3.29E-05	CCDS43646.1			1	
WSB2	0	LGGM	GRCh37	12	118472852	118472852	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	45	3	.	.	ENST00000315436.3:c.991G>C	p.Ala331Pro	p.A331P	ENST00000315436	NM_018639.4	331	Gct/Cct	0	1	1	UPI0000031565	0	getma.org/pdb.php?prot=WSB2_HUMAN&from=322&to=336&var=A331P	ENST00000315436		ENSG00000176871	19222		48	0.71		HGNC	p.A331P		WSB2		SNV							ENST00000315436	protein_coding	getma.org/?cm=var&var=hg19,12,118472852,C,G&fts=all		hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		A/P		G	neutral	1133/2646		getma.org/?cm=msa&ty=f&p=WSB2_HUMAN&rb=292&re=366&var=A331P	deleterious(0)	B4DPV6_HUMAN,B4DFS1_HUMAN			YES	WSB2,missense_variant,p.Ala331Pro,ENST00000315436,NM_018639.4;WSB2,missense_variant,p.Ala106Pro,ENST00000542304,;WSB2,missense_variant,p.Ala348Pro,ENST00000441406,NM_001278557.1;WSB2,missense_variant,p.Ala333Pro,ENST00000535496,;WSB2,missense_variant,p.Ala121Pro,ENST00000544233,NM_001278558.1;RFC5,downstream_gene_variant,,ENST00000392542,NM_181578.3;RFC5,downstream_gene_variant,,ENST00000229043,NM_001130112.2;RFC5,downstream_gene_variant,,ENST00000454402,NM_007370.5,NM_001206801.1;WSB2,downstream_gene_variant,,ENST00000537945,;RFC5,downstream_gene_variant,,ENST00000543153,;WSB2,downstream_gene_variant,,ENST00000536738,;WSB2,3_prime_UTR_variant,,ENST00000543218,;WSB2,non_coding_transcript_exon_variant,,ENST00000540129,;WSB2,downstream_gene_variant,,ENST00000543186,;							MODERATE	991/1215	A331P	WSB2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000319474		CCDS9186.1			1	
XXYLT1	0	LGGM	GRCh37	3	194877209	194877209	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	3	.	.	ENST00000310380.6:c.754G>A	p.Gly252Ser	p.G252S	ENST00000310380	NM_152531.4	252	Ggc/Agc	0	1	1	UPI000003B10F	0	NA	ENST00000310380		ENSG00000173950	26639		23	2.655		HGNC	p.G252S		XXYLT1		SNV							ENST00000310380	protein_coding	getma.org/?cm=var&var=hg19,3,194877209,C,T&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF17,Superfamily_domains:SSF53448		G/S		T	medium	863/2727		getma.org/?cm=msa&ty=f&p=XXLT1_HUMAN&rb=201&re=393&var=G252S	deleterious(0)				YES	XXYLT1,missense_variant,p.Gly252Ser,ENST00000310380,NM_152531.4;XXYLT1,missense_variant,p.Gly49Ser,ENST00000437101,;XXYLT1,missense_variant,p.Gly49Ser,ENST00000355729,;XXYLT1,missense_variant,p.Gly106Ser,ENST00000429994,;XXYLT1-AS2,downstream_gene_variant,,ENST00000447975,;XXYLT1-AS2,downstream_gene_variant,,ENST00000426468,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000491138,;XXYLT1,upstream_gene_variant,,ENST00000473200,;XXYLT1,3_prime_UTR_variant,,ENST00000418940,;							MODERATE	754/1182	G252S	XXLT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000309640		CCDS43188.1			1	
PCLO	0	LGGM	GRCh37	7	82453625	82453625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	47	3	.	.	ENST00000333891.9:c.14523G>T	p.Gln4841His	p.Q4841H	ENST00000333891	NM_033026.5	4841	caG/caT	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		50	0.895		HGNC	p.Q4841H		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82453625,C,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		Q/H		A	low	14861/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=4670&re=4869&var=Q4703H					YES	PCLO,missense_variant,p.Gln4841His,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Gln4841His,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000426442,;PCLO,upstream_gene_variant,,ENST00000432078,;							MODERATE	14523/15429	Q4703H	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
SLC9A2	0	LGGM	GRCh37	2	103236498	103236498	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	14	3	.	.	ENST00000233969.2:c.191A>T	p.Glu64Val	p.E64V	ENST00000233969	NM_003048.3	64	gAg/gTg	0	1	1	UPI000012FD21	0	NA	ENST00000233969		ENSG00000115616	11072		17	0.805		HGNC	p.E64V	rs368226194	SLC9A2		SNV	T:0						ENST00000233969	protein_coding	getma.org/?cm=var&var=hg19,2,103236498,A,T&fts=all		hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110		E/V	T:0.0003	T	low	333/5410	7.69E-05	getma.org/?cm=msa&ty=f&p=SL9A2_HUMAN&rb=1&re=83&var=E64V	deleterious(0.03)				YES	SLC9A2,missense_variant,p.Glu64Val,ENST00000233969,NM_003048.3;							MODERATE	191/2439	E64V	SL9A2_HUMAN			Transcript		benign(0.122)	.	ENSP00000233969	4.12E-05	CCDS2062.1			1	
HEATR5B	0	LGGM	GRCh37	2	37259903	37259903	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	28	3	.	.	ENST00000233099.5:c.3230G>T	p.Ser1077Ile	p.S1077I	ENST00000233099	NM_019024.1	1077	aGt/aTt	0	1	1	UPI0000160DCD	0	NA	ENST00000233099		ENSG00000008869	29273		31	2.625		HGNC	p.S1077I		HEATR5B		SNV							ENST00000354531	protein_coding	getma.org/?cm=var&var=hg19,2,37259903,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		S/I		A	medium	3326/6905		getma.org/?cm=msa&ty=f&p=HTR5B_HUMAN&rb=1001&re=1200&var=S1077I	deleterious(0)				YES	HEATR5B,missense_variant,p.Ser1077Ile,ENST00000233099,NM_019024.1;HEATR5B,missense_variant,p.Ser1077Ile,ENST00000354531,;							MODERATE	3230/6216	S1077I	HTR5B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000233099		CCDS33181.1			1	
LRRC14B	0	LGGM	GRCh37	5	192270	192270	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	3	3	.	.	ENST00000328278.3:c.617G>A	p.Arg206His	p.R206H	ENST00000328278	NM_001080478.1	206	cGt/cAt	0	1	1	UPI0000237324	0	NA	ENST00000328278		ENSG00000185028	37268		6	1.79		HGNC	p.R206H		LRRC14B		SNV							ENST00000328278	protein_coding	getma.org/?cm=var&var=hg19,5,192270,G,A&fts=all		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF27,Superfamily_domains:SSF52047		R/H		A	low	645/1573		getma.org/?cm=msa&ty=f&p=LR14B_HUMAN&rb=201&re=400&var=R206H	tolerated(0.11)				YES	LRRC14B,missense_variant,p.Arg206His,ENST00000328278,NM_001080478.1;PLEKHG4B,downstream_gene_variant,,ENST00000283426,NM_052909.3;CCDC127,downstream_gene_variant,,ENST00000296824,NM_145265.2;CTD-2083E4.7,upstream_gene_variant,,ENST00000563761,;							MODERATE	617/1545	R206H	LR14B_HUMAN			Transcript		benign(0.038)	.	ENSP00000327675	2.53E-05	CCDS47184.1			1	
IFITM3	0	LGGM	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	47	3	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0	1	1	UPI00000465C0	0	NA	ENST00000399808		ENSG00000142089	5414	0.0386	50	0.895		HGNC	p.P70T	rs199749095,COSM42691	IFITM3	0.0776	SNV			1	0.0604		0,1	ENST00000399808	protein_coding	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix		P/T		T	low	445/808	0.0502	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	tolerated(0.45)	E9PS44_HUMAN			YES	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,;	0.0105				0,1		MODERATE	208/402	P70T	IFM3_HUMAN	0.0265		Transcript		benign(0.001)	common_variant	ENSP00000382707	0.0511	CCDS41585.1	0.0547		1	23658454
ANLN	0	LGGM	GRCh37	7	36463424	36463424	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	26	4	.	.	ENST00000265748.2:c.2477-2A>T		p.X826_splice	ENST00000265748	NM_018685.2			0	1	1	UPI00001A95DE	0		ENST00000265748		ENSG00000011426	14082		30			HGNC	-		ANLN		SNV			1				ENST00000265748	protein_coding							T		-/4787				C9JJT6_HUMAN			YES	ANLN,splice_acceptor_variant,,ENST00000265748,NM_018685.2;ANLN,splice_acceptor_variant,,ENST00000396068,NM_001284302.1,NM_001284301.1;ANLN,splice_acceptor_variant,,ENST00000446635,;ANLN,splice_acceptor_variant,,ENST00000457743,;ANLN,intron_variant,,ENST00000428612,;							HIGH	2477/3375		ANLN_HUMAN			Transcript			.	ENSP00000265748		CCDS5447.1			1	
SPTA1	0	LGGM	GRCh37	1	158648322	158648322	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	34	4	.	.	ENST00000368147.4:c.681A>T	p.Glu227Asp	p.E227D	ENST00000368147	NM_003126.2	227	gaA/gaT	0	1	1	UPI0000458906	0	getma.org/pdb.php?prot=SPTA1_HUMAN&from=158&to=262&var=E227D	ENST00000368147		ENSG00000163554	11272		38	1.88		HGNC	p.E227D		SPTA1		SNV			1				ENST00000368147	protein_coding	getma.org/?cm=var&var=hg19,1,158648322,T,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966		E/D		A	low	862/7999		getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=158&re=262&var=E227D	tolerated(0.13)	O60686_HUMAN			YES	SPTA1,missense_variant,p.Glu227Asp,ENST00000368147,NM_003126.2;SPTA1,missense_variant,p.Glu45Asp,ENST00000467387,;							MODERATE	681/7260	E227D	SPTA1_HUMAN			Transcript		possibly_damaging(0.626)	.	ENSP00000357129		CCDS41423.1			1	
PHLDB3	0	LGGM	GRCh37	19	43998949	43998949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	8	4	.	.	ENST00000292140.5:c.1054A>T	p.Thr352Ser	p.T352S	ENST00000292140	NM_198850.3	352	Aca/Tca	0	1	1	UPI00015C725F	0	NA	ENST00000292140		ENSG00000176531	30499		12	0.895		HGNC	p.T352S		PHLDB3		SNV							ENST00000292140	protein_coding	getma.org/?cm=var&var=hg19,19,43998949,T,A&fts=all		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF15		T/S		A	low	1415/2591		getma.org/?cm=msa&ty=f&p=PHLB3_HUMAN&rb=291&re=499&var=T352S	tolerated(0.15)	M0R3I7_HUMAN,M0R038_HUMAN			YES	PHLDB3,missense_variant,p.Thr352Ser,ENST00000292140,NM_198850.3;PHLDB3,missense_variant,p.Thr153Ser,ENST00000600660,;PHLDB3,downstream_gene_variant,,ENST00000599242,;PHLDB3,upstream_gene_variant,,ENST00000596141,;PHLDB3,non_coding_transcript_exon_variant,,ENST00000595498,;							MODERATE	1054/1923	T352S	PHLB3_HUMAN			Transcript		possibly_damaging(0.556)	.	ENSP00000292140		CCDS12621.2			1	
ASXL3	0	LGGM	GRCh37	18	31324457	31324457	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	11	4	.	.	ENST00000269197.5:c.4645A>T	p.Ser1549Cys	p.S1549C	ENST00000269197	NM_030632.1	1549	Agt/Tgt	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		15	-0.205		HGNC	p.S1549C		ASXL3		SNV			1				ENST00000269197	protein_coding	getma.org/?cm=var&var=hg19,18,31324457,A,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		S/C		T	neutral	4645/11344		getma.org/?cm=msa&ty=f&p=ASXL3_HUMAN&rb=1368&re=1567&var=S1549C		K7EQY1_HUMAN			YES	ASXL3,missense_variant,p.Ser1549Cys,ENST00000269197,NM_030632.1;ASXL3,downstream_gene_variant,,ENST00000592288,;							MODERATE	4645/6747	S1549C	ASXL3_HUMAN			Transcript		benign(0.002)	.	ENSP00000269197		CCDS45847.1			1	
GGNBP1	0	LGGM	GRCh37	6	33556781	33556781	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	18	4	.	.	ENST00000374458.1:c.308T>C	p.Met103Thr	p.M103T	ENST00000374458		103	aTg/aCg	0	1	1	UPI00004443EE	0		ENST00000374458		ENSG00000204188	19427		22			HGNC	p.M103T		GGNBP1		SNV							ENST00000374458	protein_coding			Pfam_domain:PF14836,hmmpanther:PTHR21646:SF2,hmmpanther:PTHR21646		M/T		C		938/960			tolerated_low_confidence(0.14)				YES	GGNBP1,missense_variant,p.Met103Thr,ENST00000374458,;LINC00336,intron_variant,,ENST00000477984,;							MODERATE	308/330		GGNB1_HUMAN			Transcript		benign(0.412)	.	ENSP00000363582					1	
USP5	0	LGGM	GRCh37	12	6965983	6965983	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	5	.	.	ENST00000229268.8:c.697G>A	p.Ala233Thr	p.A233T	ENST00000229268	NM_001098536.1	233	Gct/Act	0	1	1	UPI00001379E1	0	getma.org/pdb.php?prot=UBP5_HUMAN&from=199&to=272&var=A233T	ENST00000229268		ENSG00000111667	12628		25	4.51		HGNC	p.A233T		USP5		SNV							ENST00000229268	protein_coding	getma.org/?cm=var&var=hg19,12,6965983,G,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF02148,PIRSF_domain:PIRSF016308,PROSITE_profiles:PS50271,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF381,SMART_domains:SM00290,Superfamily_domains:SSF57850		A/T		A	high	749/3181		getma.org/?cm=msa&ty=f&p=UBP5_HUMAN&rb=199&re=272&var=A233T	deleterious(0)				YES	USP5,missense_variant,p.Ala233Thr,ENST00000229268,NM_001098536.1;USP5,missense_variant,p.Ala233Thr,ENST00000389231,NM_003481.2;USP5,intron_variant,,ENST00000542087,;CDCA3,upstream_gene_variant,,ENST00000538862,;USP5,upstream_gene_variant,,ENST00000541969,;USP5,upstream_gene_variant,,ENST00000537267,;USP5,upstream_gene_variant,,ENST00000535080,;							MODERATE	697/2577	A233T	UBP5_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000229268		CCDS41743.1			1	
KDM5C	0	LGGM	GRCh37	X	53223683	53223683	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	1	5	.	.	ENST00000375401.3:c.3676A>T	p.Asn1226Tyr	p.N1226Y	ENST00000375401	NM_004187.3	1226	Aat/Tat	0	1	1	UPI000013CBE3	0	NA	ENST00000375401		ENSG00000126012	11114		6	1.385		HGNC	p.N1226Y		KDM5C		SNV			1				ENST00000375379	protein_coding	getma.org/?cm=var&var=hg19,X,53223683,T,A&fts=all		hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,PROSITE_patterns:PS01359,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903		N/Y		A	low	4209/6031		getma.org/?cm=msa&ty=f&p=KDM5C_HUMAN&rb=1101&re=1300&var=N1226Y	tolerated(0.19)				YES	KDM5C,missense_variant,p.Asn1159Tyr,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Asn1226Tyr,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Asn1225Tyr,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Asn1226Tyr,ENST00000375379,;KDM5C,missense_variant,p.Asn1185Tyr,ENST00000375383,;KDM5C,downstream_gene_variant,,ENST00000477109,;KDM5C,downstream_gene_variant,,ENST00000497100,;							MODERATE	3676/4683	N1226Y	KDM5C_HUMAN			Transcript		benign(0.017)	.	ENSP00000364550		CCDS14351.1			1	
LEMD2	0	LGGM	GRCh37	6	33747956	33747956	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	1	5	.	.	ENST00000293760.5:c.931A>T	p.Asn311Tyr	p.N311Y	ENST00000293760	NM_181336.3	311	Aat/Tat	0	1	1	UPI000006DAEA	0	NA	ENST00000293760		ENSG00000161904	21244		6	1.845		HGNC	p.N9Y		LEMD2		SNV							ENST00000508327	protein_coding	getma.org/?cm=var&var=hg19,6,33747956,T,A&fts=all		hmmpanther:PTHR13428,hmmpanther:PTHR13428:SF8,Pfam_domain:PF09402		N/Y		A	low	951/2958		getma.org/?cm=msa&ty=f&p=LEMD2_HUMAN&rb=251&re=496&var=N311Y	deleterious(0)	D6RBV0_HUMAN,D6R958_HUMAN			YES	LEMD2,missense_variant,p.Asn311Tyr,ENST00000293760,NM_181336.3;LEMD2,missense_variant,p.Asn9Tyr,ENST00000508327,NM_001143944.1;LEMD2,missense_variant,p.Asn177Tyr,ENST00000442696,;LEMD2,missense_variant,p.Asn9Tyr,ENST00000513701,;LEMD2,upstream_gene_variant,,ENST00000506578,;LEMD2,upstream_gene_variant,,ENST00000504692,;LEMD2,splice_region_variant,,ENST00000502643,;LEMD2,splice_region_variant,,ENST00000511171,;LEMD2,splice_region_variant,,ENST00000421671,;LEMD2,splice_region_variant,,ENST00000513832,;LEMD2,splice_region_variant,,ENST00000514636,;LEMD2,splice_region_variant,,ENST00000512368,;LEMD2,non_coding_transcript_exon_variant,,ENST00000510598,;							MODERATE	931/1512	N311Y	LEMD2_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000293760		CCDS4785.1			1	
ADCK4	0	LGGM	GRCh37	19	41211278	41211278	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	5	.	.	ENST00000324464.3:c.442A>G	p.Thr148Ala	p.T148A	ENST00000324464	NM_024876.3	148	Aca/Gca	0	1	1	UPI0000071B0F	0	NA	ENST00000324464		ENSG00000123815	19041		26	1.975		HGNC	p.T39A	rs751011521	ADCK4		SNV			1				ENST00000600080	protein_coding	getma.org/?cm=var&var=hg19,19,41211278,T,C&fts=all		hmmpanther:PTHR10566:SF22,hmmpanther:PTHR10566		T/A		C	medium	744/2443	3.03E-05	getma.org/?cm=msa&ty=f&p=ADCK4_HUMAN&rb=1&re=196&var=T148A	deleterious(0.02)	M0R3F7_HUMAN,M0R340_HUMAN,M0R307_HUMAN,M0R011_HUMAN,M0R001_HUMAN,M0QZZ2_HUMAN			YES	ADCK4,missense_variant,p.Thr148Ala,ENST00000324464,NM_024876.3;ADCK4,missense_variant,p.Thr39Ala,ENST00000595254,;ADCK4,missense_variant,p.Thr148Ala,ENST00000601967,;ADCK4,missense_variant,p.Thr148Ala,ENST00000594084,;ADCK4,missense_variant,p.Thr148Ala,ENST00000594720,;ADCK4,missense_variant,p.Thr39Ala,ENST00000600080,;ADCK4,missense_variant,p.Thr122Ala,ENST00000594490,;ADCK4,intron_variant,,ENST00000450541,;ADCK4,intron_variant,,ENST00000243583,NM_001142555.2;ADCK4,downstream_gene_variant,,ENST00000600707,;ADCK4,downstream_gene_variant,,ENST00000596357,;RNU6-195P,downstream_gene_variant,,ENST00000411352,;ADCK4,3_prime_UTR_variant,,ENST00000601304,;ADCK4,non_coding_transcript_exon_variant,,ENST00000601451,;ADCK4,non_coding_transcript_exon_variant,,ENST00000596455,;ADCK4,non_coding_transcript_exon_variant,,ENST00000593544,;ADCK4,intron_variant,,ENST00000599643,;ADCK4,upstream_gene_variant,,ENST00000593724,;							MODERATE	442/1635	T148A	ADCK4_HUMAN			Transcript		benign(0.392)	.	ENSP00000315118	1.65E-05	CCDS12562.1			1	
MANEA	0	LGGM	GRCh37	6	96052727	96052727	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	5	.	.	ENST00000358812.4:c.679A>G	p.Ser227Gly	p.S227G	ENST00000358812	NM_024641.3	227	Agc/Ggc	0	1	1	UPI000020DF99	0	getma.org/pdb.php?prot=MANEA_HUMAN&from=1&to=460&var=S227G	ENST00000358812		ENSG00000172469	21072		18	0.635		HGNC	p.S227G	rs369492339	MANEA		SNV	G:0						ENST00000358812	protein_coding	getma.org/?cm=var&var=hg19,6,96052727,A,G&fts=all		hmmpanther:PTHR13572:SF1,hmmpanther:PTHR13572,Superfamily_domains:SSF51445		S/G	G:0.0001	G	neutral	813/4575	5.17E-05	getma.org/?cm=msa&ty=f&p=MANEA_HUMAN&rb=1&re=460&var=S227G	deleterious(0.01)				YES	MANEA,missense_variant,p.Ser227Gly,ENST00000358812,NM_024641.3;MANEA,non_coding_transcript_exon_variant,,ENST00000474553,;							MODERATE	679/1389	S227G	MANEA_HUMAN			Transcript		benign(0.075)	.	ENSP00000351669	2.48E-05	CCDS5032.1			1	
PPAP2B	0	LGGM	GRCh37	1	56977820	56977820	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	5	.	.	ENST00000371250.3:c.638A>T	p.Tyr213Phe	p.Y213F	ENST00000371250	NM_003713.4	213	tAc/tTc	0	1	1	UPI000006F261	0	NA	ENST00000371250		ENSG00000162407	9229		18	2.06		HGNC	p.Y213F		PPAP2B		SNV							ENST00000371250	protein_coding	getma.org/?cm=var&var=hg19,1,56977820,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10165:SF79,hmmpanther:PTHR10165,Gene3D:1.20.144.10,Pfam_domain:PF01569,SMART_domains:SM00014,Superfamily_domains:SSF48317		Y/F		A	medium	1190/3292		getma.org/?cm=msa&ty=f&p=LPP3_HUMAN&rb=129&re=279&var=Y213F	deleterious(0.02)				YES	PPAP2B,missense_variant,p.Tyr213Phe,ENST00000371250,NM_003713.4;PPAP2B,non_coding_transcript_exon_variant,,ENST00000459962,;PPAP2B,non_coding_transcript_exon_variant,,ENST00000472957,;							MODERATE	638/936	Y213F	LPP3_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000360296		CCDS604.1			1	
PCDHB8	0	LGGM	GRCh37	5	140559436	140559436	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	5	.	.	ENST00000239444.2:c.1821G>T	p.Leu607=	p.L607=	ENST00000239444	NM_019120.3	607	ctG/ctT	0	1	1	UPI000013CA80	0		ENST00000239444		ENSG00000120322	8693		28			HGNC	p.L607L		PCDHB8		SNV							ENST00000239444	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		T		2066/2711							YES	PCDHB8,synonymous_variant,p.=,ENST00000239444,NM_019120.3;PCDHB16,upstream_gene_variant,,ENST00000361016,NM_020957.1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.2;							LOW	1821/2406		PCDB8_HUMAN			Transcript			.	ENSP00000239444		CCDS4250.1			1	
AUTS2	0	LGGM	GRCh37	7	70254732	70254732	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	36	6	.	.	ENST00000342771.4:c.2532-2A>T		p.X844_splice	ENST00000342771	NM_015570.2			0	1	1	UPI0000126665	0		ENST00000342771		ENSG00000158321	14262		42			HGNC	-		AUTS2		SNV			1				ENST00000406775	protein_coding							T		-/6173				Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN			YES	AUTS2,splice_acceptor_variant,,ENST00000342771,NM_015570.2;AUTS2,splice_acceptor_variant,,ENST00000406775,NM_001127231.1;AUTS2,splice_acceptor_variant,,ENST00000418686,;AUTS2,splice_acceptor_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000439256,;							HIGH	2532/3780		AUTS2_HUMAN			Transcript			.	ENSP00000344087		CCDS5539.1			1	
PHOX2A	0	LGGM	GRCh37	11	71952256	71952256	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	6	.	.	ENST00000298231.5:c.295A>G	p.Ser99Gly	p.S99G	ENST00000298231	NM_005169.3	99	Agc/Ggc	0	1	1	UPI0000074593	0	getma.org/pdb.php?prot=PHX2A_HUMAN&from=91&to=147&var=S99G	ENST00000298231		ENSG00000165462	691		23	1.115		HGNC	p.S99G		PHOX2A		SNV			1				ENST00000298231	protein_coding	getma.org/?cm=var&var=hg19,11,71952256,T,C&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF303,SMART_domains:SM00389,Superfamily_domains:SSF46689		S/G		C	low	467/1699		getma.org/?cm=msa&ty=f&p=PHX2A_HUMAN&rb=91&re=147&var=S99G	deleterious(0)				YES	PHOX2A,missense_variant,p.Ser99Gly,ENST00000298231,NM_005169.3;INPPL1,downstream_gene_variant,,ENST00000541756,;INPPL1,downstream_gene_variant,,ENST00000298229,NM_001567.3;INPPL1,downstream_gene_variant,,ENST00000538751,;PHOX2A,upstream_gene_variant,,ENST00000546310,;INPPL1,downstream_gene_variant,,ENST00000541752,;INPPL1,downstream_gene_variant,,ENST00000320683,;PHOX2A,non_coding_transcript_exon_variant,,ENST00000544057,;INPPL1,downstream_gene_variant,,ENST00000535985,;							MODERATE	295/855	S99G	PHX2A_HUMAN			Transcript		benign(0.213)	.	ENSP00000298231		CCDS8214.1			1	
SLC9A3	0	LGGM	GRCh37	5	488582	488582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	7	6	.	.	ENST00000264938.3:c.524A>T	p.Gln175Leu	p.Q175L	ENST00000264938	NM_004174.2	175	cAg/cTg	0	1	1	UPI000013D597	0	NA	ENST00000264938		ENSG00000066230	11073		13	1.35		HGNC	p.Q175L		SLC9A3		SNV							ENST00000514375	protein_coding	getma.org/?cm=var&var=hg19,5,488582,T,A&fts=all		hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999		Q/L		A	low	534/2584		getma.org/?cm=msa&ty=f&p=SL9A3_HUMAN&rb=58&re=462&var=Q175L	deleterious(0.04)				YES	SLC9A3,missense_variant,p.Gln175Leu,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Gln175Leu,ENST00000514375,NM_001284351.1;							MODERATE	524/2505	Q175L	SL9A3_HUMAN			Transcript		benign(0.139)	.	ENSP00000264938		CCDS3855.1			1	
MAP2	0	LGGM	GRCh37	2	210594949	210594949	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	15	6	.	.	ENST00000360351.4:c.5312G>T	p.Arg1771Leu	p.R1771L	ENST00000360351	NM_002374.3	1771	cGt/cTt	0	1	1	UPI000013D119	0	NA	ENST00000360351		ENSG00000078018	6839		21	1.525		HGNC	p.R415L		MAP2		SNV							ENST00000392194	protein_coding	getma.org/?cm=var&var=hg19,2,210594949,G,T&fts=all		hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501		R/L		T	low	5818/9711		getma.org/?cm=msa&ty=f&p=MAP2_HUMAN&rb=1755&re=1827&var=R1771L	deleterious(0)	A8MZ31_HUMAN			YES	MAP2,missense_variant,p.Arg1771Leu,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Arg1767Leu,ENST00000447185,;MAP2,missense_variant,p.Arg415Leu,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,missense_variant,p.Arg503Leu,ENST00000199940,NM_001039538.1;MAP2,missense_variant,p.Arg415Leu,ENST00000361559,;MAP2,downstream_gene_variant,,ENST00000475600,;							MODERATE	5312/5484	R1771L	MTAP2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000353508		CCDS2384.1			1	
WIPF3	0	LGGM	GRCh37	7	29924095	29924095	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	8	7	.	.	ENST00000409290.1:c.985A>T	p.Lys329Ter	p.K329*	ENST00000409290	NM_001080529.2	329	Aaa/Taa	0	1		UPI00006C0B78	0	NA	ENST00000242140		ENSG00000122574	22004		15	0		HGNC	p.K329X		WIPF3		SNV							ENST00000409123	protein_coding	getma.org/?cm=var&var=hg19,7,29924095,A,T&fts=all		hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF31,Low_complexity_(Seg):seg		K/*		T	NA	985/3241		NA						WIPF3,stop_gained,p.Lys329Ter,ENST00000409290,NM_001080529.2;WIPF3,stop_gained,p.Lys329Ter,ENST00000409123,;WIPF3,stop_gained,p.Lys329Ter,ENST00000242140,;							HIGH	985/1452	K329*				Transcript			.	ENSP00000242140					1	
PHOX2A	0	LGGM	GRCh37	11	71952252	71952252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	7	.	.	ENST00000298231.5:c.299C>A	p.Ala100Glu	p.A100E	ENST00000298231	NM_005169.3	100	gCg/gAg	0	1	1	UPI0000074593	0	getma.org/pdb.php?prot=PHX2A_HUMAN&from=91&to=147&var=A100E	ENST00000298231		ENSG00000165462	691		24	-0.945		HGNC	p.A100E		PHOX2A		SNV			1				ENST00000298231	protein_coding	getma.org/?cm=var&var=hg19,11,71952252,G,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF303,SMART_domains:SM00389,Superfamily_domains:SSF46689		A/E		T	neutral	471/1699		getma.org/?cm=msa&ty=f&p=PHX2A_HUMAN&rb=91&re=147&var=A100E	deleterious(0.01)				YES	PHOX2A,missense_variant,p.Ala100Glu,ENST00000298231,NM_005169.3;INPPL1,downstream_gene_variant,,ENST00000541756,;INPPL1,downstream_gene_variant,,ENST00000298229,NM_001567.3;INPPL1,downstream_gene_variant,,ENST00000538751,;PHOX2A,upstream_gene_variant,,ENST00000546310,;INPPL1,downstream_gene_variant,,ENST00000541752,;INPPL1,downstream_gene_variant,,ENST00000320683,;PHOX2A,non_coding_transcript_exon_variant,,ENST00000544057,;INPPL1,downstream_gene_variant,,ENST00000535985,;							MODERATE	299/855	A100E	PHX2A_HUMAN			Transcript		benign(0.341)	.	ENSP00000298231		CCDS8214.1			1	
OTOF	0	LGGM	GRCh37	2	26696966	26696966	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	7	7	.	.	ENST00000272371.2:c.3301G>C	p.Gly1101Arg	p.G1101R	ENST00000272371	NM_194248.2	1101	Ggg/Cgg	0	1	1	UPI000013D94D	0	NA	ENST00000272371		ENSG00000115155	8515		14	2.625		HGNC	p.G1101R		OTOF		SNV			1				ENST00000272371	protein_coding	getma.org/?cm=var&var=hg19,2,26696966,C,G&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32		G/R		G	medium	3428/7156		getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=1053&re=1139&var=G1101R	deleterious(0.02)				YES	OTOF,missense_variant,p.Gly1101Arg,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Gly1101Arg,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Gly411Arg,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Gly354Arg,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Gly354Arg,ENST00000339598,NM_194323.2;OTOF,upstream_gene_variant,,ENST00000426958,;							MODERATE	3301/5994	G1101R	OTOF_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000272371		CCDS1725.1			1	
SPNS3	0	LGGM	GRCh37	17	4349373	4349373	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	14	7	.	.	ENST00000355530.2:c.433A>T	p.Ile145Phe	p.I145F	ENST00000355530	NM_182538.4	145	Atc/Ttc	0	1	1	UPI00001971EC	0	NA	ENST00000355530		ENSG00000182557	28433		21	-0.53		HGNC	p.I18F		SPNS3		SNV							ENST00000333476	protein_coding	getma.org/?cm=var&var=hg19,17,4349373,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24001:SF2,hmmpanther:PTHR24001,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		I/F		T	neutral	713/2133		getma.org/?cm=msa&ty=f&p=SPNS3_HUMAN&rb=51&re=420&var=I145F	tolerated(0.06)				YES	SPNS3,missense_variant,p.Ile145Phe,ENST00000355530,NM_182538.4;SPNS3,missense_variant,p.Ile18Phe,ENST00000333476,;SPNS3,non_coding_transcript_exon_variant,,ENST00000576069,;SPNS3,missense_variant,p.His99Leu,ENST00000575194,;SPNS3,non_coding_transcript_exon_variant,,ENST00000572078,;SPNS3,upstream_gene_variant,,ENST00000575185,;							MODERATE	433/1539	I145F	SPNS3_HUMAN			Transcript		benign(0.01)	.	ENSP00000347721		CCDS11045.1			1	
TRIM46	0	LGGM	GRCh37	1	155154510	155154510	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	7	.	.	ENST00000334634.4:c.1771C>T	p.Arg591Cys	p.R591C	ENST00000334634	NM_001282378.1	591	Cgc/Tgc	0	1	1	UPI000022B316	0	NA	ENST00000334634		ENSG00000163462	19019		24	1.85		HGNC	p.R591C	rs750970043	TRIM46		SNV							ENST00000368383	protein_coding	getma.org/?cm=var&var=hg19,1,155154510,C,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF27,Superfamily_domains:SSF49899		R/C		T	low	1771/3061	4.73E-05	getma.org/?cm=msa&ty=f&p=TRI46_HUMAN&rb=526&re=747&var=R591C	deleterious(0)	F5GYK0_HUMAN			YES	TRIM46,missense_variant,p.Arg568Cys,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,missense_variant,p.Arg591Cys,ENST00000334634,NM_001282378.1,NM_001256601.1;TRIM46,missense_variant,p.Arg591Cys,ENST00000368383,;TRIM46,missense_variant,p.Arg465Cys,ENST00000545012,;TRIM46,3_prime_UTR_variant,,ENST00000392451,;TRIM46,3_prime_UTR_variant,,ENST00000543729,;RP11-201K10.3,intron_variant,,ENST00000473363,;TRIM46,downstream_gene_variant,,ENST00000368385,NM_001282379.1;MUC1,downstream_gene_variant,,ENST00000368395,NM_001204285.1,NM_001204286.1;MUC1,downstream_gene_variant,,ENST00000457295,;MUC1,downstream_gene_variant,,ENST00000338684,;MUC1,downstream_gene_variant,,ENST00000368392,NM_001018017.2,NM_001018016.2,NM_001204288.1,NM_001204287.1;MUC1,downstream_gene_variant,,ENST00000368393,NM_001204293.1;MUC1,downstream_gene_variant,,ENST00000438413,NM_001204289.1,NM_001204291.1,NM_001204290.1;MUC1,downstream_gene_variant,,ENST00000337604,NM_002456.5;MUC1,downstream_gene_variant,,ENST00000368390,;MUC1,downstream_gene_variant,,ENST00000368398,NM_001204292.1,NM_001204294.1;MUC1,downstream_gene_variant,,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,downstream_gene_variant,,ENST00000368389,;MUC1,downstream_gene_variant,,ENST00000342482,;MUC1,downstream_gene_variant,,ENST00000368396,NM_001044392.2;TRIM46,non_coding_transcript_exon_variant,,ENST00000468878,;TRIM46,non_coding_transcript_exon_variant,,ENST00000474430,;MUC1,downstream_gene_variant,,ENST00000462215,;MUC1,downstream_gene_variant,,ENST00000462317,;TRIM46,downstream_gene_variant,,ENST00000464760,;MUC1,downstream_gene_variant,,ENST00000468978,;MUC1,downstream_gene_variant,,ENST00000498431,;MUC1,downstream_gene_variant,,ENST00000485118,;MUC1,downstream_gene_variant,,ENST00000471283,;MUC1,downstream_gene_variant,,ENST00000467134,;							MODERATE	1771/2280	R591C	TRI46_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000334657	2.47E-05	CCDS1097.1			1	
BAZ2A	0	LGGM	GRCh37	12	56998032	56998032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	12	7	.	.	ENST00000551812.1:c.3013A>T	p.Asn1005Tyr	p.N1005Y	ENST00000551812	NM_013449.3	1005	Aac/Tac	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		19	1.39		HGNC	p.N1003Y		BAZ2A		SNV							ENST00000549884	protein_coding	getma.org/?cm=var&var=hg19,12,56998032,T,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		N/Y		A	low	3207/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=911&re=1110&var=N1005Y	deleterious(0)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Asn973Tyr,ENST00000179765,;BAZ2A,missense_variant,p.Asn975Tyr,ENST00000379441,;BAZ2A,missense_variant,p.Asn1005Tyr,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Asn1003Tyr,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000551759,;BAZ2A,downstream_gene_variant,,ENST00000548578,;							MODERATE	3013/5718	N1005Y	BAZ2A_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000446880		CCDS44924.1			1	
RFX1	0	LGGM	GRCh37	19	14090356	14090356	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	8	8	.	.	ENST00000254325.4:c.739-2A>T		p.X247_splice	ENST00000254325	NM_002918.4			0	1	1	UPI000013CE29	0		ENST00000254325		ENSG00000132005	9982		16			HGNC	-		RFX1		SNV							ENST00000254325	protein_coding							A		-/4332							YES	RFX1,splice_acceptor_variant,,ENST00000254325,NM_002918.4;RFX1,downstream_gene_variant,,ENST00000588885,;RFX1,splice_acceptor_variant,,ENST00000589239,;RFX1,downstream_gene_variant,,ENST00000589760,;RFX1,downstream_gene_variant,,ENST00000589937,;							HIGH	739/2940		RFX1_HUMAN			Transcript			.	ENSP00000254325		CCDS12301.1			1	
ECE1	0	LGGM	GRCh37	1	21599382	21599382	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	6	8	.	.	ENST00000374893.6:c.303C>T	p.Ser101=	p.S101=	ENST00000374893	NM_001397.2	101	agC/agT	0	1	1	UPI0000129B5E	0		ENST00000374893		ENSG00000117298	3146		14			HGNC	p.S98S	rs765200448,COSM260635	ECE1		SNV			1			0,1	ENST00000264205	protein_coding			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF104,Superfamily_domains:SSF55486		S		A		378/2484				E9PN99_HUMAN,E9PJG1_HUMAN			YES	ECE1,synonymous_variant,p.=,ENST00000415912,NM_001113348.1;ECE1,synonymous_variant,p.=,ENST00000357071,NM_001113347.1;ECE1,synonymous_variant,p.=,ENST00000374893,NM_001397.2;ECE1,synonymous_variant,p.=,ENST00000264205,NM_001113349.1;ECE1,synonymous_variant,p.=,ENST00000436918,;ECE1,synonymous_variant,p.=,ENST00000527991,;ECE1,synonymous_variant,p.=,ENST00000481130,;ECE1,5_prime_UTR_variant,,ENST00000473505,;ECE1,non_coding_transcript_exon_variant,,ENST00000463334,;ECE1,non_coding_transcript_exon_variant,,ENST00000526194,;	0.000116				0,1		LOW	303/2313		ECE1_HUMAN			Transcript			.	ENSP00000364028	8.24E-06	CCDS215.1			1	
LRRC1	0	LGGM	GRCh37	6	53743826	53743826	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	8	.	.	ENST00000370888.1:c.313A>T	p.Lys105Ter	p.K105*	ENST00000370888	NM_018214.4	105	Aaa/Taa	0	1	1	UPI0000072801	0	NA	ENST00000370888		ENSG00000137269	14307		30	0		HGNC	p.K105X		LRRC1		SNV							ENST00000370888	protein_coding	getma.org/?cm=var&var=hg19,6,53743826,A,T&fts=all		hmmpanther:PTHR23155:SF412,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00364,Superfamily_domains:SSF52058		K/*		T	NA	590/3180		NA					YES	LRRC1,stop_gained,p.Lys105Ter,ENST00000370888,NM_018214.4;LRRC1,stop_gained,p.Lys105Ter,ENST00000370882,;LRRC1,stop_gained,p.Lys105Ter,ENST00000487251,;							HIGH	313/1575	K105*	LRRC1_HUMAN			Transcript			.	ENSP00000359925		CCDS4953.2			1	
COMMD5	0	LGGM	GRCh37	8	146076212	146076212	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	16	8	.	.	ENST00000450361.2:c.512C>T	p.Ser171Phe	p.S171F	ENST00000450361	NM_001081003.2	171	tCc/tTc	0	1		UPI000004A08E	0	NA	ENST00000305103		ENSG00000170619	17902		24	1.905		HGNC	p.S171F		COMMD5		SNV							ENST00000305103	protein_coding	getma.org/?cm=var&var=hg19,8,146076212,G,A&fts=all		PROSITE_profiles:PS51269,hmmpanther:PTHR15666:SF1,hmmpanther:PTHR15666,Pfam_domain:PF07258		S/F		A	medium	765/1373		getma.org/?cm=msa&ty=f&p=COMD5_HUMAN&rb=37&re=214&var=S171F	deleterious(0.04)	E9PJE4_HUMAN				COMMD5,missense_variant,p.Ser171Phe,ENST00000450361,NM_001081003.2;COMMD5,missense_variant,p.Ser171Phe,ENST00000305103,NM_014066.3;COMMD5,missense_variant,p.Ser171Phe,ENST00000402718,NM_001081004.1,NM_001287237.1;COMMD5,missense_variant,p.Ser171Phe,ENST00000529143,;COMMD5,missense_variant,p.Ser171Phe,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,missense_variant,p.Ser117Phe,ENST00000530332,;							MODERATE	512/675	S171F	COMD5_HUMAN			Transcript		benign(0.037)	.	ENSP00000304544		CCDS6436.1			1	
CD63	0	LGGM	GRCh37	12	56119945	56119945	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	8	.	.	ENST00000549117.1:c.527G>T	p.Gly176Val	p.G176V	ENST00000549117	NM_001257389.1	176	gGc/gTc	0	1		UPI000013CF91	0	NA	ENST00000257857		ENSG00000135404	1692		28	1.755		HGNC	p.G153V		CD63		SNV							ENST00000552754	protein_coding	getma.org/?cm=var&var=hg19,12,56119945,C,A&fts=all		Superfamily_domains:0037997,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF212		G/V		A	low	806/1070		getma.org/?cm=msa&ty=f&p=CD63_HUMAN&rb=9&re=231&var=G176V	deleterious(0)	F8W022_HUMAN,F8VWK8_HUMAN,F8VV56_HUMAN,F8VNT9_HUMAN				CD63,missense_variant,p.Gly176Val,ENST00000549117,NM_001257389.1;CD63,missense_variant,p.Gly176Val,ENST00000257857,;CD63,missense_variant,p.Gly176Val,ENST00000420846,NM_001780.5;CD63,missense_variant,p.Gly176Val,ENST00000552692,NM_001257391.1;CD63,missense_variant,p.Gly94Val,ENST00000550776,NM_001257401.1;CD63,missense_variant,p.Gly176Val,ENST00000552164,NM_001267698.1;CD63,missense_variant,p.Gly176Val,ENST00000551173,NM_001257390.1;CD63,missense_variant,p.Gly94Val,ENST00000546939,NM_001257400.1;CD63,missense_variant,p.Gly83Val,ENST00000548898,;CD63,missense_variant,p.Gly153Val,ENST00000552754,NM_001257392.1;CD63,missense_variant,p.Gly83Val,ENST00000548160,;CD63,missense_variant,p.Gly83Val,ENST00000552067,;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,;CD63,downstream_gene_variant,,ENST00000546457,;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,;CD63,non_coding_transcript_exon_variant,,ENST00000548117,;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,,ENST00000555199,;							MODERATE	527/717	G176V	CD63_HUMAN			Transcript		benign(0.217)	.	ENSP00000257857		CCDS8890.1			1	
IGSF8	0	LGGM	GRCh37	1	160062845	160062845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	25	8	.	.	ENST00000368086.1:c.1181A>T	p.Glu394Val	p.E394V	ENST00000368086		394	gAg/gTg	0	1		UPI0000073CBA	0	getma.org/pdb.php?prot=IGSF8_HUMAN&from=303&to=424&var=E394V	ENST00000314485		ENSG00000162729	17813		33	1.04		HGNC	p.E394V		IGSF8		SNV							ENST00000368086	protein_coding	getma.org/?cm=var&var=hg19,1,160062845,T,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/V		A	low	1398/2343		getma.org/?cm=msa&ty=f&p=IGSF8_HUMAN&rb=303&re=424&var=E394V	tolerated(0.07)	C9J8Z4_HUMAN				IGSF8,missense_variant,p.Glu394Val,ENST00000368086,;IGSF8,missense_variant,p.Glu394Val,ENST00000314485,NM_052868.4,NM_001206665.2;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,downstream_gene_variant,,ENST00000448417,;IGSF8,downstream_gene_variant,,ENST00000460351,;							MODERATE	1181/1842	E394V	IGSF8_HUMAN			Transcript		possibly_damaging(0.664)	.	ENSP00000316664		CCDS1195.1			1	
VPS33A	0	LGGM	GRCh37	12	122717363	122717363	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	8	8	.	.	ENST00000267199.4:c.1593A>T	p.Thr531=	p.T531=	ENST00000267199	NM_022916.4	531	acA/acT	0	1	1	UPI000000D7AA	0		ENST00000267199		ENSG00000139719	18179		16			HGNC	p.T492T		VPS33A		SNV							ENST00000535844	protein_coding			Gene3D:3.40.50.1910,Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF31,Superfamily_domains:SSF56815		T		A		1706/4586				Q9H6C4_HUMAN			YES	VPS33A,synonymous_variant,p.=,ENST00000267199,NM_022916.4;VPS33A,downstream_gene_variant,,ENST00000541169,;RP11-512M8.5,synonymous_variant,p.=,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;							LOW	1593/1791		VP33A_HUMAN			Transcript			.	ENSP00000267199		CCDS9231.1			1	
C12orf55	0	LGGM	GRCh37	12	97085087	97085087	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	8	.	.	ENST00000524981.4:c.6263T>C	p.Ile2088Thr	p.I2088T	ENST00000524981		2088	aTa/aCa	0	1	1	UPI0001F77A4D	0		ENST00000524981		ENSG00000188596	26456		25			HGNC	p.I2088T		C12orf55		SNV							ENST00000524981	protein_coding					I/T		C		6286/9766			tolerated(0.21)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Ile2088Thr,ENST00000524981,;C12orf55,splice_region_variant,,ENST00000342887,;							MODERATE	6263/9291					Transcript		benign(0.001)	.	ENSP00000431759					1	
LGI3	0	LGGM	GRCh37	8	22005705	22005705	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	24	9	.	.	ENST00000306317.2:c.1615T>A	p.Tyr539Asn	p.Y539N	ENST00000306317	NM_139278.2	539	Tat/Aat	0	1	1	UPI0000070742	0	NA	ENST00000306317		ENSG00000168481	18711		33	2.08		HGNC	p.Y539N		LGI3		SNV							ENST00000306317	protein_coding	getma.org/?cm=var&var=hg19,8,22005705,A,T&fts=all		Pfam_domain:PF03736,PROSITE_profiles:PS50912,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF10		Y/N		T	medium	1905/3272		getma.org/?cm=msa&ty=f&p=LGI3_HUMAN&rb=500&re=541&var=Y539N	deleterious(0)				YES	LGI3,missense_variant,p.Tyr539Asn,ENST00000306317,NM_139278.2;LGI3,missense_variant,p.Tyr515Asn,ENST00000424267,;LGI3,downstream_gene_variant,,ENST00000517694,;LGI3,non_coding_transcript_exon_variant,,ENST00000520124,;LGI3,downstream_gene_variant,,ENST00000518365,;							MODERATE	1615/1647	Y539N	LGI3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000302297		CCDS6025.1			1	
RBP3	0	LGGM	GRCh37	10	48388573	48388573	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	2	9	.	.	ENST00000224600.4:c.2305T>A	p.Trp769Arg	p.W769R	ENST00000224600	NM_002900.2	769	Tgg/Agg	0	1	1	UPI000012D87A	0	getma.org/pdb.php?prot=RET3_HUMAN&from=742&to=918&var=W769R	ENST00000224600		ENSG00000107618	9921		11	2.955		HGNC	p.W769R		RBP3		SNV			1				ENST00000224600	protein_coding	getma.org/?cm=var&var=hg19,10,48388573,A,T&fts=all		hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096		W/R		T	medium	2419/4276		getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=742&re=918&var=W769R	deleterious(0)				YES	RBP3,missense_variant,p.Trp769Arg,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;							MODERATE	2305/3744	W769R	RET3_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000224600		CCDS7218.1			1	
TLN2	0	LGGM	GRCh37	15	63058563	63058563	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	9	9	.	.	ENST00000561311.1:c.5138A>T	p.His1713Leu	p.H1713L	ENST00000561311		1713	cAc/cTc	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=1656&to=1849&var=H1713L	ENST00000306829		ENSG00000171914	15447		18	2.015		HGNC	p.H1713L		TLN2		SNV							ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,63058563,A,T&fts=all		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Superfamily_domains:SSF47220		H/L		T	medium	5138/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1656&re=1849&var=H1713L	deleterious(0.01)					TLN2,missense_variant,p.His1713Leu,ENST00000561311,;TLN2,missense_variant,p.His1713Leu,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.His627Leu,ENST00000494733,;TLN2,missense_variant,p.His106Leu,ENST00000472902,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;TLN2,downstream_gene_variant,,ENST00000467297,;							MODERATE	5138/7629	H1713L	TLN2_HUMAN			Transcript		benign(0.017)	.	ENSP00000303476		CCDS32261.1			1	
FAM208B	0	LGGM	GRCh37	10	5762853	5762853	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	9	.	.	ENST00000328090.5:c.66A>T	p.Lys22Asn	p.K22N	ENST00000328090	NM_017782.4	22	aaA/aaT	0	1	1	UPI00004589BB	0	NA	ENST00000328090		ENSG00000108021	23484		44	2.045		HGNC	p.K22N		FAM208B		SNV							ENST00000328090	protein_coding	getma.org/?cm=var&var=hg19,10,5762853,A,T&fts=all		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		K/N		T	medium	691/8626		getma.org/?cm=msa&ty=f&p=F208B_HUMAN&rb=1&re=200&var=K22N	deleterious(0.01)				YES	FAM208B,missense_variant,p.Lys22Asn,ENST00000328090,NM_017782.4;FAM208B,downstream_gene_variant,,ENST00000496681,;RP11-336A10.2,intron_variant,,ENST00000411512,;FAM208B,downstream_gene_variant,,ENST00000480839,;							MODERATE	66/7293	K22N	F208B_HUMAN			Transcript		benign(0.132)	.	ENSP00000328426		CCDS41485.1			1	
FGF11	0	LGGM	GRCh37	17	7344788	7344788	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	15	10	.	.	ENST00000293829.4:c.194-2A>T		p.X65_splice	ENST00000293829	NM_004112.2			0	1	1	UPI000003596F	0		ENST00000293829		ENSG00000161958	3667		25			HGNC	-		FGF11		SNV							ENST00000293829	protein_coding							T		-/3063				Q6LA99_HUMAN,I3L4N4_HUMAN			YES	FGF11,splice_acceptor_variant,,ENST00000293829,NM_004112.2;FGF11,splice_acceptor_variant,,ENST00000575082,;FGF11,splice_acceptor_variant,,ENST00000575235,;FGF11,5_prime_UTR_variant,,ENST00000572907,;FGF11,5_prime_UTR_variant,,ENST00000575398,;CHRNB1,upstream_gene_variant,,ENST00000306071,NM_000747.2;TMEM102,downstream_gene_variant,,ENST00000323206,NM_178518.2;TMEM102,downstream_gene_variant,,ENST00000396568,;CHRNB1,upstream_gene_variant,,ENST00000576360,;CHRNB1,upstream_gene_variant,,ENST00000536404,;CHRNB1,upstream_gene_variant,,ENST00000570557,;CHRNB1,upstream_gene_variant,,ENST00000572857,;RP11-104H15.8,intron_variant,,ENST00000576615,;RP11-104H15.9,upstream_gene_variant,,ENST00000570444,;RP11-104H15.7,splice_acceptor_variant,,ENST00000575310,;RP11-104H15.10,non_coding_transcript_exon_variant,,ENST00000575331,;FGF11,splice_acceptor_variant,,ENST00000576328,;CHRNB1,upstream_gene_variant,,ENST00000573209,;CHRNB1,upstream_gene_variant,,ENST00000574054,;							HIGH	194/678		FGF11_HUMAN			Transcript			.	ENSP00000293829		CCDS11105.1			1	
NT5DC4	0	LGGM	GRCh37	2	113487221	113487221	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	10	.	.	ENST00000327581.4:c.1188T>A	p.Val396=	p.V396=	ENST00000327581		396	gtT/gtA	0	1	1	UPI0000197313	0		ENST00000327581		ENSG00000144130	27678		30			HGNC	p.V396V		NT5DC4		SNV							ENST00000327581	protein_coding			Superfamily_domains:SSF56784		V		A		1239/1767							YES	NT5DC4,synonymous_variant,p.=,ENST00000327581,;NT5DC4,non_coding_transcript_exon_variant,,ENST00000497526,;NT5DC4,upstream_gene_variant,,ENST00000491170,;NT5DC4,downstream_gene_variant,,ENST00000462854,;							LOW	1188/1287		NT5D4_HUMAN			Transcript			.	ENSP00000330247					1	
CCDC151	0	LGGM	GRCh37	19	11533417	11533417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	11	10	.	.	ENST00000356392.4:c.1229A>T	p.Gln410Leu	p.Q410L	ENST00000356392	NM_145045.4	410	cAg/cTg	0	1	1	UPI000040CC83	0	NA	ENST00000356392		ENSG00000198003	28303		21	2.395		HGNC	p.Q350L		CCDC151		SNV			1				ENST00000591179	protein_coding	getma.org/?cm=var&var=hg19,19,11533417,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF1,Low_complexity_(Seg):seg		Q/L		A	medium	1317/2107		getma.org/?cm=msa&ty=f&p=CC151_HUMAN&rb=1&re=473&var=Q410L	tolerated(0.05)	K7EPK8_HUMAN,B7ZMB9_HUMAN			YES	CCDC151,missense_variant,p.Gln410Leu,ENST00000356392,NM_145045.4;CCDC151,missense_variant,p.Gln350Leu,ENST00000591179,;CCDC151,missense_variant,p.Gln356Leu,ENST00000545100,;CCDC151,missense_variant,p.Gln219Leu,ENST00000586836,;RGL3,upstream_gene_variant,,ENST00000380456,NM_001035223.2,NM_001161616.1;RGL3,upstream_gene_variant,,ENST00000393423,;RGL3,upstream_gene_variant,,ENST00000567431,;RGL3,upstream_gene_variant,,ENST00000567080,;RGL3,upstream_gene_variant,,ENST00000561570,;CCDC151,3_prime_UTR_variant,,ENST00000591345,;RGL3,upstream_gene_variant,,ENST00000563726,;RGL3,upstream_gene_variant,,ENST00000562663,;RGL3,upstream_gene_variant,,ENST00000453604,;RGL3,upstream_gene_variant,,ENST00000569439,;RGL3,upstream_gene_variant,,ENST00000568420,;							MODERATE	1229/1788	Q410L	CC151_HUMAN			Transcript		possibly_damaging(0.816)	.	ENSP00000348757		CCDS42501.1			1	
FBN1	0	LGGM	GRCh37	15	48729566	48729566	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	10	.	.	ENST00000316623.5:c.6332G>A	p.Cys2111Tyr	p.C2111Y	ENST00000316623	NM_000138.4	2111	tGt/tAt	0	1	1	UPI0000163B0B	0	getma.org/pdb.php?prot=FBN1_HUMAN&from=2059&to=2111&var=C2111Y	ENST00000316623		ENSG00000166147	3603		27	3.345		HGNC	p.C2111Y		FBN1		SNV			1				ENST00000316623	protein_coding	getma.org/?cm=var&var=hg19,15,48729566,C,T&fts=all		Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Superfamily_domains:SSF57581		C/Y		T	medium	6788/11756		getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=2059&re=2111&var=C2111Y		Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,missense_variant,p.Cys2111Tyr,ENST00000316623,NM_000138.4;FBN1,missense_variant,p.Cys547Tyr,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000560720,;FBN1,downstream_gene_variant,,ENST00000560820,;							MODERATE	6332/8616	C2111Y	FBN1_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000325527		CCDS32232.1			1	
SMPD1	0	LGGM	GRCh37	11	6413303	6413303	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	10	.	.	ENST00000342245.4:c.1008C>T	p.Gly336=	p.G336=	ENST00000342245	NM_001007593.2	336	ggC/ggT	0	1	1	UPI000013E592	0		ENST00000342245		ENSG00000166311	11120		27			HGNC	p.G336G		SMPD1		SNV			1				ENST00000356761	protein_coding			hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF13,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF000948,Superfamily_domains:SSF56300		G		T		1176/2452				E9PL59_HUMAN			YES	SMPD1,synonymous_variant,p.=,ENST00000342245,NM_001007593.2,NM_000543.4;SMPD1,synonymous_variant,p.=,ENST00000299397,;SMPD1,synonymous_variant,p.=,ENST00000356761,;SMPD1,synonymous_variant,p.=,ENST00000527275,;SMPD1,synonymous_variant,p.=,ENST00000526280,;APBB1,downstream_gene_variant,,ENST00000389906,;APBB1,downstream_gene_variant,,ENST00000609360,NM_001164.3;APBB1,downstream_gene_variant,,ENST00000299402,;APBB1,downstream_gene_variant,,ENST00000311051,NM_145689.1;APBB1,downstream_gene_variant,,ENST00000608394,NM_001257321.1;APBB1,downstream_gene_variant,,ENST00000608704,NM_001257320.1,NM_001257326.1;APBB1,downstream_gene_variant,,ENST00000608645,;APBB1,downstream_gene_variant,,ENST00000608655,NM_001257319.1;APBB1,downstream_gene_variant,,ENST00000530885,NM_001257323.1;APBB1,downstream_gene_variant,,ENST00000609331,NM_001257325.1;APBB1,downstream_gene_variant,,ENST00000529519,;SMPD1,downstream_gene_variant,,ENST00000530395,;APBB1,downstream_gene_variant,,ENST00000526240,;SMPD1,downstream_gene_variant,,ENST00000533196,;SMPD1,synonymous_variant,p.=,ENST00000534405,;SMPD1,synonymous_variant,p.=,ENST00000533123,;SMPD1,intron_variant,,ENST00000531303,;APBB1,downstream_gene_variant,,ENST00000608435,;APBB1,downstream_gene_variant,,ENST00000524626,;SMPD1,upstream_gene_variant,,ENST00000531336,;SMPD1,upstream_gene_variant,,ENST00000532367,;							LOW	1008/1896		ASM_HUMAN			Transcript			.	ENSP00000340409		CCDS44531.1			1	
ALG6	0	LGGM	GRCh37	1	63862223	63862223	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	10	.	.	ENST00000371108.4:c.122A>T	p.Gln41Leu	p.Q41L	ENST00000371108	NM_013339.3	41	cAg/cTg	0	1	1	UPI00001E057D	0	NA	ENST00000371108		ENSG00000088035	23157		32	3.565		HGNC	p.Q41L		ALG6		SNV			1				ENST00000371108	protein_coding	getma.org/?cm=var&var=hg19,1,63862223,A,T&fts=all		hmmpanther:PTHR12413:SF1,hmmpanther:PTHR12413,Pfam_domain:PF03155		Q/L		T	high	427/3371		getma.org/?cm=msa&ty=f&p=ALG6_HUMAN&rb=12&re=491&var=Q41L	deleterious(0)				YES	ALG6,missense_variant,p.Gln41Leu,ENST00000371108,NM_013339.3;ALG6,missense_variant,p.Gln41Leu,ENST00000263440,;ALG6,missense_variant,p.Gln41Leu,ENST00000603108,;ALG6,3_prime_UTR_variant,,ENST00000487136,;							MODERATE	122/1524	Q41L	ALG6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360149		CCDS30735.1			1	
NPTXR	0	LGGM	GRCh37	22	39222615	39222615	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	10	.	.	ENST00000333039.2:c.988A>T	p.Ser330Cys	p.S330C	ENST00000333039	NM_014293.3	330	Agc/Tgc	0	1	1	UPI00001B0258	0	getma.org/pdb.php?prot=NPTXR_HUMAN&from=293&to=488&var=S330C	ENST00000333039		ENSG00000221890	7954		23	2.345		HGNC	p.S330C		NPTXR		SNV							ENST00000333039	protein_coding	getma.org/?cm=var&var=hg19,22,39222615,T,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF94,SMART_domains:SM00159,Superfamily_domains:SSF49899		S/C		A	medium	1112/5784		getma.org/?cm=msa&ty=f&p=NPTXR_HUMAN&rb=293&re=488&var=S330C	deleterious(0.04)				YES	NPTXR,missense_variant,p.Ser330Cys,ENST00000333039,NM_014293.3;							MODERATE	988/1503	S330C	NPTXR_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000327545		CCDS33647.1			1	
C1QTNF7	0	LGGM	GRCh37	4	15437364	15437364	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	10	.	.	ENST00000295297.4:c.18A>C	p.Pro6=	p.P6=	ENST00000295297	NM_001135170.1	6	ccA/ccC	0	1		UPI0000001077	0		ENST00000429690		ENSG00000163145	14342		23			HGNC	p.P6P		C1QTNF7		SNV							ENST00000295297	protein_coding							C		224/4464				J3KPK0_HUMAN				C1QTNF7,synonymous_variant,p.=,ENST00000295297,NM_001135170.1;C1QTNF7,synonymous_variant,p.=,ENST00000397700,;C1QTNF7,5_prime_UTR_variant,,ENST00000429690,NM_001135171.1,NM_031911.4;C1QTNF7,5_prime_UTR_variant,,ENST00000444304,;C1QTNF7,5_prime_UTR_variant,,ENST00000382383,;							MODIFIER	-/870		C1QT7_HUMAN			Transcript			.	ENSP00000410722		CCDS3414.1			1	
NBEA	0	LGGM	GRCh37	13	35785195	35785195	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	24	10	.	.	ENST00000400445.3:c.5527G>A	p.Val1843Met	p.V1843M	ENST00000400445	NM_015678.4	1843	Gtg/Atg	0	1	1	UPI00004FF92F	0	NA	ENST00000400445		ENSG00000172915	7648		34	1.04		HGNC	p.V1840M		NBEA		SNV							ENST00000379939	protein_coding	getma.org/?cm=var&var=hg19,13,35785195,G,A&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743		V/M		A	low	6061/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=1804&re=1965&var=V1843M	tolerated(0.15)				YES	NBEA,missense_variant,p.Val1843Met,ENST00000540320,;NBEA,missense_variant,p.Val1843Met,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Val1843Met,ENST00000310336,;NBEA,missense_variant,p.Val1840Met,ENST00000379939,;							MODERATE	5527/8841	V1843M	NBEA_HUMAN			Transcript		benign(0.029)	.	ENSP00000383295		CCDS45026.1			1	
TMEM144	0	LGGM	GRCh37	4	159165468	159165468	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	11	.	.	ENST00000296529.6:c.921A>T	p.Ala307=	p.A307=	ENST00000296529	NM_018342.4	307	gcA/gcT	0	1	1	UPI0000140BEC	0		ENST00000296529		ENSG00000164124	25633		28			HGNC	p.A307A		TMEM144		SNV							ENST00000296529	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR16119:SF12,hmmpanther:PTHR16119,Superfamily_domains:0043518		A		T		1441/3442				D6RDN8_HUMAN,D6RDF9_HUMAN,D6RCA2_HUMAN,D6RAX5_HUMAN,D6R9U5_HUMAN,D6R9I0_HUMAN			YES	TMEM144,synonymous_variant,p.=,ENST00000296529,NM_018342.4;TMEM144,non_coding_transcript_exon_variant,,ENST00000503404,;TMEM144,3_prime_UTR_variant,,ENST00000511532,;TMEM144,non_coding_transcript_exon_variant,,ENST00000512272,;							LOW	921/1038		TM144_HUMAN			Transcript			.	ENSP00000296529		CCDS3799.1			1	
RTKN	0	LGGM	GRCh37	2	74653428	74653428	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	11	.	.	ENST00000272430.5:c.1634G>C	p.Arg545Pro	p.R545P	ENST00000272430	NM_001015055.1	545	cGg/cCg	0	1	1	UPI0000031F56	0	NA	ENST00000272430		ENSG00000114993	10466		33	0.205		HGNC	p.R495P		RTKN		SNV							ENST00000233330	protein_coding	getma.org/?cm=var&var=hg19,2,74653428,C,G&fts=all				R/P		G	neutral	1717/2142		getma.org/?cm=msa&ty=f&p=RTKN_HUMAN&rb=491&re=561&var=R545P	tolerated_low_confidence(0.16)				YES	RTKN,missense_variant,p.Arg532Pro,ENST00000305557,NM_033046.2;RTKN,missense_variant,p.Arg495Pro,ENST00000233330,NM_001015056.1;RTKN,missense_variant,p.Arg545Pro,ENST00000272430,NM_001015055.1;WDR54,downstream_gene_variant,,ENST00000348227,NM_032118.2;C2orf81,upstream_gene_variant,,ENST00000518863,;WDR54,downstream_gene_variant,,ENST00000409791,;WDR54,downstream_gene_variant,,ENST00000426787,;WDR54,downstream_gene_variant,,ENST00000461531,;WDR54,downstream_gene_variant,,ENST00000469321,;RTKN,downstream_gene_variant,,ENST00000479256,;WDR54,downstream_gene_variant,,ENST00000468778,;WDR54,downstream_gene_variant,,ENST00000465134,;WDR54,downstream_gene_variant,,ENST00000480089,;WDR54,downstream_gene_variant,,ENST00000482880,;RTKN,downstream_gene_variant,,ENST00000492013,;WDR54,downstream_gene_variant,,ENST00000482605,;WDR54,downstream_gene_variant,,ENST00000493982,;WDR54,downstream_gene_variant,,ENST00000469932,;WDR54,downstream_gene_variant,,ENST00000475328,;RTKN,downstream_gene_variant,,ENST00000469859,;							MODERATE	1634/1692	R545P	RTKN_HUMAN			Transcript		benign(0.003)	.	ENSP00000272430		CCDS33226.1			1	
SMARCA4	0	LGGM	GRCh37	19	11096908	11096908	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	15	11	.	.	ENST00000344626.4:c.399A>T	p.Pro133=	p.P133=	ENST00000344626	NM_003072.3	133	ccA/ccT	0	1		UPI000006F973	0		ENST00000344626		ENSG00000127616	11100		26			HGNC	p.P133P		SMARCA4		SNV			1				ENST00000450717	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Low_complexity_(Seg):seg		P		T		604/5392				B4DSI8_HUMAN,A7E2E1_HUMAN				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,non_coding_transcript_exon_variant,,ENST00000591545,;							LOW	399/4944		SMCA4_HUMAN			Transcript			.	ENSP00000343896		CCDS12253.1			1	
POLQ	0	LGGM	GRCh37	3	121190999	121190999	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	11	.	.	ENST00000264233.5:c.6556A>T	p.Lys2186Ter	p.K2186*	ENST00000264233	NM_199420.3	2186	Aaa/Taa	0	1	1	UPI0000D61B5F	0	NA	ENST00000264233		ENSG00000051341	9186		33	0		HGNC	p.K2186X		POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121190999,T,A&fts=all		Gene3D:1.20.1060.10,Superfamily_domains:SSF56672		K/*		A	NA	6685/8775		NA					YES	POLQ,stop_gained,p.Lys2186Ter,ENST00000264233,NM_199420.3;POLQ,intron_variant,,ENST00000474243,;							HIGH	6556/7773	K2186*	DPOLQ_HUMAN			Transcript			.	ENSP00000264233		CCDS33833.1			1	
EXTL3	0	LGGM	GRCh37	8	28574957	28574957	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	11	.	.	ENST00000220562.4:c.1381C>T	p.Pro461Ser	p.P461S	ENST00000220562	NM_001440.3	461	Ccg/Tcg	0	1	1	UPI000012A35D	0	NA	ENST00000220562		ENSG00000012232	3518		32	2.305		HGNC	p.P461S		EXTL3		SNV							ENST00000220562	protein_coding	getma.org/?cm=var&var=hg19,8,28574957,C,T&fts=all		Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF57		P/S		T	medium	2283/6483		getma.org/?cm=msa&ty=f&p=EXTL3_HUMAN&rb=190&re=500&var=P461S	deleterious(0)	E5RIV6_HUMAN,B4DG91_HUMAN			YES	EXTL3,missense_variant,p.Pro461Ser,ENST00000220562,NM_001440.3;EXTL3,missense_variant,p.Pro77Ser,ENST00000523149,;EXTL3,intron_variant,,ENST00000521532,;EXTL3,upstream_gene_variant,,ENST00000521473,;EXTL3,intron_variant,,ENST00000519886,;EXTL3,downstream_gene_variant,,ENST00000518223,;EXTL3,downstream_gene_variant,,ENST00000522725,;EXTL3,downstream_gene_variant,,ENST00000520940,;EXTL3,downstream_gene_variant,,ENST00000454906,;EXTL3,downstream_gene_variant,,ENST00000519288,;EXTL3,intron_variant,,ENST00000522698,;							MODERATE	1381/2760	P461S	EXTL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000220562		CCDS6070.1			1	
HMCN1	0	LGGM	GRCh37	1	186024531	186024531	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	46	11	.	.	ENST00000271588.4:c.6869C>T	p.Pro2290Leu	p.P2290L	ENST00000271588	NM_031935.2	2290	cCa/cTa	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=2290&to=2379&var=P2290L	ENST00000271588		ENSG00000143341	19194		57	3.14		HGNC	p.P2290L		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186024531,C,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		P/L		T	medium	7098/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=2290&re=2379&var=P2290L					YES	HMCN1,missense_variant,p.Pro2290Leu,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Pro2290Leu,ENST00000367492,;							MODERATE	6869/16908	P2290L	HMCN1_HUMAN			Transcript		benign(0.176)	.	ENSP00000271588		CCDS30956.1			1	
LRRC7	0	LGGM	GRCh37	1	70555413	70555413	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	12	.	.	ENST00000035383.5:c.4342T>A	p.Cys1448Ser	p.C1448S	ENST00000035383	NM_020794.2	1448	Tgt/Agt	0	1	1	UPI000006F29B	0	getma.org/pdb.php?prot=LRRC7_HUMAN&from=1448&to=1532&var=C1448S	ENST00000035383		ENSG00000033122	18531		35	0.49		HGNC	p.C1448S		LRRC7		SNV							ENST00000035383	protein_coding	getma.org/?cm=var&var=hg19,1,70555413,T,A&fts=all		Gene3D:2.30.42.10,Superfamily_domains:SSF50156		C/S		A	neutral	4372/5000		getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=1448&re=1532&var=C1448S	tolerated(0.4)				YES	LRRC7,missense_variant,p.Cys1406Ser,ENST00000310961,;LRRC7,missense_variant,p.Cys1448Ser,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Cys732Ser,ENST00000415775,;							MODERATE	4342/4614	C1448S	LRRC7_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000035383		CCDS645.1			1	
ZCCHC11	0	LGGM	GRCh37	1	52933858	52933858	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	12	.	.	ENST00000257177.4:c.2960A>T	p.Tyr987Phe	p.Y987F	ENST00000257177		987	tAt/tTt	0	1		UPI00002371F6	0	NA	ENST00000371544		ENSG00000134744	28981		32	-0.17		HGNC	p.Y746F		ZCCHC11		SNV							ENST00000484723	protein_coding	getma.org/?cm=var&var=hg19,1,52933858,T,A&fts=all		Gene3D:3.30.460.10,Pfam_domain:PF01909,hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF49,Superfamily_domains:SSF81301		Y/F		A	neutral	3223/5858		getma.org/?cm=msa&ty=f&p=TUT4_HUMAN&rb=978&re=1068&var=Y987F	tolerated(0.51)	H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN				ZCCHC11,missense_variant,p.Tyr987Phe,ENST00000371544,NM_015269.2,NM_001009881.2;ZCCHC11,missense_variant,p.Tyr987Phe,ENST00000257177,;ZCCHC11,missense_variant,p.Tyr916Phe,ENST00000528642,;ZCCHC11,missense_variant,p.Tyr746Phe,ENST00000484723,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000371541,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000481133,;							MODERATE	2960/4935	Y987F	TUT4_HUMAN			Transcript		benign(0.42)	.	ENSP00000360599		CCDS30716.1			1	
ZNF207	0	LGGM	GRCh37	17	30692467	30692467	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	12	.	.	ENST00000394670.4:c.789G>T	p.Gln263His	p.Q263H	ENST00000394670	NM_001098507.1	263	caG/caT	0	1		UPI000013C31B	0	NA	ENST00000321233		ENSG00000010244	12998		35	1.59		HGNC	p.Q266H		ZNF207		SNV							ENST00000342555	protein_coding	getma.org/?cm=var&var=hg19,17,30692467,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23215,Prints_domain:PR01217		Q/H		T	low	895/2283		getma.org/?cm=msa&ty=f&p=ZN207_HUMAN&rb=201&re=400&var=Q247H	deleterious(0.01)	J3QS27_HUMAN,J3KTL1_HUMAN,J3KRW6_HUMAN,J3KRB6_HUMAN				ZNF207,missense_variant,p.Gln263His,ENST00000394670,NM_001098507.1;ZNF207,missense_variant,p.Gln263His,ENST00000577908,;ZNF207,missense_variant,p.Gln247His,ENST00000321233,NM_003457.3;ZNF207,missense_variant,p.Gln263His,ENST00000394673,NM_001032293.2;ZNF207,missense_variant,p.Gln164His,ENST00000341711,;ZNF207,missense_variant,p.Gln266His,ENST00000342555,;ZNF207,downstream_gene_variant,,ENST00000394679,;ZNF207,downstream_gene_variant,,ENST00000582165,;ZNF207,downstream_gene_variant,,ENST00000579634,;ZNF207,downstream_gene_variant,,ENST00000580759,;RP11-227G15.3,downstream_gene_variant,,ENST00000581915,;RP11-227G15.3,downstream_gene_variant,,ENST00000578389,;ZNF207,missense_variant,p.Gln110His,ENST00000581531,;ZNF207,non_coding_transcript_exon_variant,,ENST00000579416,;ZNF207,non_coding_transcript_exon_variant,,ENST00000582705,;ZNF207,downstream_gene_variant,,ENST00000577324,;ZNF207,upstream_gene_variant,,ENST00000579810,;ZNF207,upstream_gene_variant,,ENST00000584696,;							MODERATE	741/1437	Q247H	ZN207_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000322777		CCDS11271.1			1	
LARP4B	0	LGGM	GRCh37	10	858899	858899	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	14	12	.	.	ENST00000316157.3:c.2184A>T	p.Arg728=	p.R728=	ENST00000316157	NM_015155.2	728	cgA/cgT	0	1	1	UPI00001F8C87	0		ENST00000316157		ENSG00000107929	28987		26			HGNC	p.R728R		LARP4B		SNV							ENST00000316157	protein_coding			hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43		R		A		2225/5640				B5MCU2_HUMAN			YES	LARP4B,synonymous_variant,p.=,ENST00000316157,NM_015155.2;LARP4B,synonymous_variant,p.=,ENST00000448368,;LARP4B,downstream_gene_variant,,ENST00000440895,;LARP4B,downstream_gene_variant,,ENST00000469487,;LARP4B,non_coding_transcript_exon_variant,,ENST00000609318,;LARP4B,downstream_gene_variant,,ENST00000608970,;							LOW	2184/2217		LAR4B_HUMAN			Transcript			.	ENSP00000326128		CCDS31131.1			1	
TRIP12	0	LGGM	GRCh37	2	230672502	230672502	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	26	12	.	.	ENST00000283943.5:c.2274A>T	p.Thr758=	p.T758=	ENST00000283943	NM_004238.1	758	acA/acT	0	1	1	UPI000013739D	0		ENST00000283943		ENSG00000153827	12306		38			HGNC	p.T806T		TRIP12		SNV							ENST00000389044	protein_coding			Superfamily_domains:SSF117839,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50918		T		A		2453/9874				Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	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,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;TRIP12,upstream_gene_variant,,ENST00000487178,;TRIP12,downstream_gene_variant,,ENST00000477441,;							LOW	2274/5979		TRIPC_HUMAN			Transcript			.	ENSP00000283943		CCDS33391.1			1	
AKAP6	0	LGGM	GRCh37	14	33243075	33243075	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	13	.	.	ENST00000280979.4:c.3564A>T	p.Leu1188=	p.L1188=	ENST00000280979	NM_004274.4	1188	ctA/ctT	0	1	1	UPI000013DC48	0		ENST00000280979		ENSG00000151320	376		34			HGNC	p.L1188L		AKAP6		SNV							ENST00000557272	protein_coding			hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		L		T		3734/8686				G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,synonymous_variant,p.=,ENST00000280979,NM_004274.4;AKAP6,synonymous_variant,p.=,ENST00000557272,;AKAP6,synonymous_variant,p.=,ENST00000554740,;AKAP6,downstream_gene_variant,,ENST00000555207,;AKAP6,downstream_gene_variant,,ENST00000556540,;							LOW	3564/6960		AKAP6_HUMAN			Transcript			.	ENSP00000280979		CCDS9644.1			1	
NPC1	0	LGGM	GRCh37	18	21136380	21136380	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	18	13	.	.	ENST00000269228.5:c.1153A>T	p.Ser385Cys	p.S385C	ENST00000269228	NM_000271.4	385	Agc/Tgc	0	1	1	UPI000013D80F	0	NA	ENST00000269228		ENSG00000141458	7897		31	1.73		HGNC	p.S385C		NPC1		SNV			1				ENST00000269228	protein_coding	getma.org/?cm=var&var=hg19,18,21136380,T,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		S/C		A	low	1708/5157		getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=201&re=400&var=S385C	deleterious(0.03)				YES	NPC1,missense_variant,p.Ser385Cys,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Ser135Cys,ENST00000412552,;NPC1,missense_variant,p.Ser146Cys,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,upstream_gene_variant,,ENST00000590301,;							MODERATE	1153/3837	S385C	NPC1_HUMAN			Transcript		possibly_damaging(0.469)	.	ENSP00000269228		CCDS11878.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1808279	1808279	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	14	13	.	.	ENST00000349830.3:c.410C>T	p.Ser137Phe	p.S137F	ENST00000349830	NM_014629.2	137	tCc/tTc	0	1		UPI0000D89824	0	NA	ENST00000398564		ENSG00000104728	14103		27	1.905		HGNC	p.S137F		ARHGEF10		SNV			1				ENST00000349830	protein_coding	getma.org/?cm=var&var=hg19,8,1808279,C,T&fts=all		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14		S/F		T	medium	482/5480		getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=23&re=238&var=S161F	deleterious_low_confidence(0)					ARHGEF10,missense_variant,p.Ser161Phe,ENST00000518288,;ARHGEF10,missense_variant,p.Ser137Phe,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Ser161Phe,ENST00000398564,;ARHGEF10,missense_variant,p.Ser137Phe,ENST00000520359,;ARHGEF10,missense_variant,p.Ser161Phe,ENST00000262112,;ARHGEF10,missense_variant,p.Ser161Phe,ENST00000398560,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000382795,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000522969,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;							MODERATE	482/4110	S161F	ARHGA_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000381571					1	
TIMELESS	0	LGGM	GRCh37	12	56818582	56818582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	13	.	.	ENST00000553532.1:c.1832A>T	p.Gln611Leu	p.Q611L	ENST00000553532		611	cAg/cTg	0	1	1	UPI000013C8EA	0	NA	ENST00000553532		ENSG00000111602	11813		34	1.265		HGNC	p.Q611L		TIMELESS		SNV							ENST00000553532	protein_coding	getma.org/?cm=var&var=hg19,12,56818582,T,A&fts=all		hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940		Q/L		A	low	1983/4371		getma.org/?cm=msa&ty=f&p=TIM_HUMAN&rb=486&re=685&var=Q611L	tolerated(0.36)				YES	TIMELESS,missense_variant,p.Gln610Leu,ENST00000229201,NM_003920.3;TIMELESS,missense_variant,p.Gln611Leu,ENST00000553532,;TIMELESS,intron_variant,,ENST00000554616,;TIMELESS,upstream_gene_variant,,ENST00000557589,;TIMELESS,upstream_gene_variant,,ENST00000555808,;TIMELESS,upstream_gene_variant,,ENST00000553314,;							MODERATE	1832/3627	Q611L	TIM_HUMAN			Transcript		benign(0.001)	.	ENSP00000450607		CCDS8918.1			1	
IFRD1	0	LGGM	GRCh37	7	112098939	112098939	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	13	.	.	ENST00000403825.3:c.433G>T	p.Ala145Ser	p.A145S	ENST00000403825	NM_001550.3	145	Gct/Tct	0	1		UPI00000304DC	0	NA	ENST00000005558		ENSG00000006652	5456		36	2.33		HGNC	p.A95S		IFRD1		SNV			1				ENST00000535603	protein_coding	getma.org/?cm=var&var=hg19,7,112098939,G,T&fts=all		Superfamily_domains:SSF48371,Pfam_domain:PF05004,Gene3D:1.25.10.10,hmmpanther:PTHR12354:SF6,hmmpanther:PTHR12354		A/S		T	medium	903/1834		getma.org/?cm=msa&ty=f&p=IFRD1_HUMAN&rb=42&re=347&var=A145S	deleterious(0.01)	A4D0U1_HUMAN,Q75MS4_HUMAN,Q75M99_HUMAN,Q75M98_HUMAN,E9PMY4_HUMAN,C9JNM6_HUMAN,C9JLG5_HUMAN,C9JFH1_HUMAN,C9J7U6_HUMAN,C9J311_HUMAN,B7Z4L0_HUMAN				IFRD1,missense_variant,p.Ala145Ser,ENST00000403825,NM_001550.3;IFRD1,missense_variant,p.Ala145Ser,ENST00000005558,NM_001007245.2,NM_001197080.1;IFRD1,missense_variant,p.Ala95Ser,ENST00000535603,NM_001197079.1;IFRD1,missense_variant,p.Ala95Ser,ENST00000440625,;IFRD1,missense_variant,p.Ala95Ser,ENST00000476927,;IFRD1,downstream_gene_variant,,ENST00000429071,;IFRD1,upstream_gene_variant,,ENST00000421296,;IFRD1,downstream_gene_variant,,ENST00000445335,;IFRD1,downstream_gene_variant,,ENST00000443101,;IFRD1,non_coding_transcript_exon_variant,,ENST00000486688,;IFRD1,non_coding_transcript_exon_variant,,ENST00000466459,;							MODERATE	433/1356	A145S	IFRD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000005558		CCDS34736.1			1	
ADCK3	0	LGGM	GRCh37	1	227169824	227169824	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	8	13	.	.	ENST00000366779.1:c.827A>C	p.Lys276Thr	p.K276T	ENST00000366779		276	aAg/aCg	0	1		UPI0000126D6B	0	NA	ENST00000366777		ENSG00000163050	16812		21	4.19		HGNC	p.K276T		ADCK3		SNV			1				ENST00000366777	protein_coding	getma.org/?cm=var&var=hg19,1,227169824,A,C&fts=all		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF21		K/T		C	high	948/2872		getma.org/?cm=msa&ty=f&p=ADCK3_HUMAN&rb=201&re=317&var=K276T	deleterious(0)	Q5T7A2_HUMAN,A1L377_HUMAN				ADCK3,missense_variant,p.Lys276Thr,ENST00000366779,;ADCK3,missense_variant,p.Lys276Thr,ENST00000366777,NM_020247.4;ADCK3,missense_variant,p.Lys224Thr,ENST00000366778,;ADCK3,5_prime_UTR_variant,,ENST00000458507,;ADCK3,5_prime_UTR_variant,,ENST00000433743,;ADCK3,non_coding_transcript_exon_variant,,ENST00000478406,;ADCK3,non_coding_transcript_exon_variant,,ENST00000485462,;ADCK3,upstream_gene_variant,,ENST00000479852,;ADCK3,downstream_gene_variant,,ENST00000489044,;ADCK3,upstream_gene_variant,,ENST00000464693,;ADCK3,downstream_gene_variant,,ENST00000476488,;							MODERATE	827/1944	K276T	ADCK3_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000355739		CCDS1557.1			1	
GRIK4	0	LGGM	GRCh37	11	120833184	120833184	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	16	13	.	.	ENST00000527524.2:c.2060A>T	p.Tyr687Phe	p.Y687F	ENST00000527524	NM_001282470.1	687	tAc/tTc	0	1		UPI000013DB8D	0	getma.org/pdb.php?prot=GRIK4_HUMAN&from=544&to=816&var=Y687F	ENST00000438375		ENSG00000149403	4582		29	1.33		HGNC	p.Y687F		GRIK4		SNV							ENST00000438375	protein_coding	getma.org/?cm=var&var=hg19,11,120833184,A,T&fts=all		Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966		Y/F		T	low	2402/4214		getma.org/?cm=msa&ty=f&p=GRIK4_HUMAN&rb=544&re=816&var=Y687F	tolerated(0.15)					GRIK4,missense_variant,p.Tyr687Phe,ENST00000527524,NM_001282470.1;GRIK4,missense_variant,p.Tyr687Phe,ENST00000438375,NM_014619.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;							MODERATE	2060/2871	Y687F	GRIK4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000404063		CCDS8433.1			1	
RPH3A	0	LGGM	GRCh37	12	113285573	113285573	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	26	13	.	.	ENST00000389385.4:c.156T>A	p.Asp52Glu	p.D52E	ENST00000389385	NM_001143854.1	52	gaT/gaA	0	1	1	UPI000013456D	0	getma.org/pdb.php?prot=RP3A_HUMAN&from=2&to=96&var=D52E	ENST00000389385		ENSG00000089169	17056		39	1.205		HGNC	p.D52E		RPH3A		SNV							ENST00000553114	protein_coding	getma.org/?cm=var&var=hg19,12,113285573,T,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF02318,PROSITE_profiles:PS50916,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Superfamily_domains:SSF57903		D/E		A	low	653/4679		getma.org/?cm=msa&ty=f&p=RP3A_HUMAN&rb=2&re=96&var=D52E	deleterious(0.04)	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN			YES	RPH3A,missense_variant,p.Asp52Glu,ENST00000389385,NM_001143854.1,NM_014954.3;RPH3A,missense_variant,p.Asp52Glu,ENST00000415485,;RPH3A,missense_variant,p.Asp52Glu,ENST00000420983,;RPH3A,missense_variant,p.Asp48Glu,ENST00000551052,;RPH3A,missense_variant,p.Asp52Glu,ENST00000543106,;RPH3A,missense_variant,p.Asp52Glu,ENST00000551593,;RPH3A,missense_variant,p.Asp52Glu,ENST00000547728,;RPH3A,missense_variant,p.Asp52Glu,ENST00000551198,;RPH3A,missense_variant,p.Asp52Glu,ENST00000552667,;RPH3A,missense_variant,p.Asp52Glu,ENST00000548197,;RPH3A,missense_variant,p.Asp52Glu,ENST00000553114,;RPH3A,missense_variant,p.Asp52Glu,ENST00000547840,;RPH3A,missense_variant,p.Asp52Glu,ENST00000546703,;RPH3A,missense_variant,p.Asp52Glu,ENST00000551748,;RPH3A,missense_variant,p.Asp52Glu,ENST00000549769,;RPH3A,missense_variant,p.Asp52Glu,ENST00000547686,;RPH3A,5_prime_UTR_variant,,ENST00000550901,;RPH3A,intron_variant,,ENST00000447659,;RPH3A,intron_variant,,ENST00000548866,;RPH3A,downstream_gene_variant,,ENST00000549736,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552679,;RPH3A,upstream_gene_variant,,ENST00000547222,;RPH3A,3_prime_UTR_variant,,ENST00000547099,;							MODERATE	156/2085	D52E	RP3A_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000374036		CCDS44979.1			1	
SERPINI1	0	LGGM	GRCh37	3	167512423	167512423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	25	14	.	.	ENST00000295777.5:c.692G>A	p.Gly231Asp	p.G231D	ENST00000295777	NM_005025.4	231	gGc/gAc	0	1	1	UPI000002FBA4	0	getma.org/pdb.php?prot=NEUS_HUMAN&from=24&to=397&var=G231D	ENST00000295777		ENSG00000163536	8943		39	0.6		HGNC	p.G231D		SERPINI1		SNV			1				ENST00000472747	protein_coding	getma.org/?cm=var&var=hg19,3,167512423,G,A&fts=all		Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461:SF50,hmmpanther:PTHR11461		G/D		A	neutral	1123/1907		getma.org/?cm=msa&ty=f&p=NEUS_HUMAN&rb=24&re=397&var=G231D	deleterious(0.04)	C9JQU8_HUMAN,C9JDY5_HUMAN			YES	SERPINI1,missense_variant,p.Gly231Asp,ENST00000295777,NM_005025.4;SERPINI1,missense_variant,p.Gly231Asp,ENST00000446050,NM_001122752.1;SERPINI1,missense_variant,p.Gly231Asp,ENST00000472747,;SERPINI1,downstream_gene_variant,,ENST00000472941,;							MODERATE	692/1233	G231D	NEUS_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000295777		CCDS3203.1			1	
SVIL	0	LGGM	GRCh37	10	29812672	29812672	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	46	14	.	.	ENST00000375398.2:c.2871A>T	p.Thr957=	p.T957=	ENST00000375398		957	acA/acT	0	1		UPI0000366678	0		ENST00000355867		ENSG00000197321	11480		60			HGNC	p.T957T		SVIL		SNV							ENST00000355867	protein_coding			hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28		T		A		3624/7586				Q569J5_HUMAN				SVIL,synonymous_variant,p.=,ENST00000375398,;SVIL,synonymous_variant,p.=,ENST00000355867,NM_021738.2;SVIL,synonymous_variant,p.=,ENST00000375400,NM_003174.3;SVIL,upstream_gene_variant,,ENST00000535393,;SVIL,upstream_gene_variant,,ENST00000464984,;							LOW	2871/6645		SVIL_HUMAN			Transcript			.	ENSP00000348128		CCDS7164.1			1	
SAMM50	0	LGGM	GRCh37	22	44368218	44368218	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	28	14	.	.	ENST00000350028.4:c.425G>C	p.Ser142Thr	p.S142T	ENST00000350028	NM_015380.4	142	aGt/aCt	0	1	1	UPI000016A33D	0	NA	ENST00000350028		ENSG00000100347	24276		42	2.125		HGNC	p.S142T		SAMM50		SNV							ENST00000350028	protein_coding	getma.org/?cm=var&var=hg19,22,44368218,G,C&fts=all		Gene3D:2qdzA01,hmmpanther:PTHR12815		S/T		C	medium	582/1717		getma.org/?cm=msa&ty=f&p=SAM50_HUMAN&rb=1&re=150&var=S142T	deleterious(0.01)	A8MZI2_HUMAN			YES	SAMM50,missense_variant,p.Ser142Thr,ENST00000350028,NM_015380.4;SAMM50,intron_variant,,ENST00000396202,;SAMM50,non_coding_transcript_exon_variant,,ENST00000493161,;SAMM50,upstream_gene_variant,,ENST00000474323,;							MODERATE	425/1410	S142T	SAM50_HUMAN			Transcript		benign(0.086)	.	ENSP00000345445		CCDS14055.1			1	
CUBN	0	LGGM	GRCh37	10	17032488	17032488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	14	.	.	ENST00000377833.4:c.4195A>G	p.Thr1399Ala	p.T1399A	ENST00000377833	NM_001081.3	1399	Aca/Gca	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=1391&to=1503&var=T1399A	ENST00000377833		ENSG00000107611	2548		36	1.445		HGNC	p.T1399A		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,17032488,T,C&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854		T/A		C	low	4261/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1391&re=1503&var=T1399A	tolerated(0.23)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Thr1399Ala,ENST00000377833,NM_001081.3;							MODERATE	4195/10872	T1399A	CUBN_HUMAN			Transcript		benign(0.014)	.	ENSP00000367064		CCDS7113.1			1	
RRM2	0	LGGM	GRCh37	2	10263512	10263512	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	29	14	.	.	ENST00000360566.2:c.355-2A>T		p.X119_splice	ENST00000360566	NM_001165931.1			0	1		UPI00000012E4	0		ENST00000304567		ENSG00000171848	10452		43			HGNC	p.Q8L		RRM2		SNV							ENST00000474701	protein_coding							T		-/3271				Q9UKM0_HUMAN,Q8N6S3_HUMAN,B3KS26_HUMAN				RRM2,splice_acceptor_variant,,ENST00000360566,NM_001165931.1;RRM2,splice_acceptor_variant,,ENST00000304567,NM_001034.3;RRM2,missense_variant,p.Gln8Leu,ENST00000474701,;RP11-254F7.4,downstream_gene_variant,,ENST00000607140,;RRM2,splice_acceptor_variant,,ENST00000459969,;RRM2,splice_acceptor_variant,,ENST00000491447,;RRM2,splice_acceptor_variant,,ENST00000461327,;RRM2,splice_acceptor_variant,,ENST00000498343,;RRM2,upstream_gene_variant,,ENST00000487591,;RRM2,upstream_gene_variant,,ENST00000485717,;RRM2,upstream_gene_variant,,ENST00000462343,;							HIGH	175/1170		RIR2_HUMAN			Transcript			.	ENSP00000302955		CCDS1669.1			1	
ABCC4	0	LGGM	GRCh37	13	95735537	95735537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	16	14	.	.	ENST00000376887.4:c.2543T>A	p.Leu848Gln	p.L848Q	ENST00000376887	NM_005845.3	848	cTa/cAa	0	1	1	UPI00001A36E6	0	getma.org/pdb.php?prot=MRP4_HUMAN&from=711&to=995&var=L848Q	ENST00000376887		ENSG00000125257	55		30	3.075		HGNC	p.L848Q		ABCC4		SNV							ENST00000376887	protein_coding	getma.org/?cm=var&var=hg19,13,95735537,A,T&fts=all		Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF205,PROSITE_profiles:PS50929,Low_complexity_(Seg):seg		L/Q		T	medium	2658/5837		getma.org/?cm=msa&ty=f&p=MRP4_HUMAN&rb=711&re=995&var=L848Q	deleterious(0)	Q8IUA3_HUMAN			YES	ABCC4,missense_variant,p.Leu848Gln,ENST00000376887,NM_005845.3;ABCC4,missense_variant,p.Leu801Gln,ENST00000412704,;							MODERATE	2543/3978	L848Q	MRP4_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000366084		CCDS9474.1			1	
DNAH9	0	LGGM	GRCh37	17	11515018	11515018	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	37	14	.	.	ENST00000262442.4:c.825G>A	p.Arg275=	p.R275=	ENST00000262442	NM_001372.3	275	agG/agA	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		51			HGNC	p.R30R		DNAH9		SNV							ENST00000579602	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08385		R		A		893/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;DNAH9,synonymous_variant,p.=,ENST00000579828,;DNAH9,synonymous_variant,p.=,ENST00000579602,;DNAH9,upstream_gene_variant,,ENST00000579813,;DNAH9,non_coding_transcript_exon_variant,,ENST00000579406,;							LOW	825/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
MAGEB1	0	LGGM	GRCh37	X	30269382	30269382	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	14	.	.	ENST00000378981.3:c.772G>T	p.Glu258Ter	p.E258*	ENST00000378981	NM_002363.4	258	Gag/Tag	0	1	1	UPI000012F053	0	NA	ENST00000378981		ENSG00000214107	6808		27	0		HGNC	p.E258X		MAGEB1		SNV							ENST00000397550	protein_coding	getma.org/?cm=var&var=hg19,X,30269382,G,T&fts=all		Pfam_domain:PF01454,hmmpanther:PTHR11736:SF52,hmmpanther:PTHR11736,PROSITE_profiles:PS50838		E/*		T	NA	1093/1866		NA					YES	MAGEB1,stop_gained,p.Glu258Ter,ENST00000378981,NM_002363.4;MAGEB1,stop_gained,p.Glu258Ter,ENST00000397550,NM_177415.2;MAGEB1,stop_gained,p.Glu258Ter,ENST00000397548,NM_177404.2;							HIGH	772/1044	E258*	MAGB1_HUMAN			Transcript			.	ENSP00000368264		CCDS14222.1			1	
GRIN3A	0	LGGM	GRCh37	9	104449051	104449051	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	14	.	.	ENST00000361820.3:c.1131T>A	p.His377Gln	p.H377Q	ENST00000361820	NM_133445.2	377	caT/caA	0	1	1	UPI0000367661	0	NA	ENST00000361820		ENSG00000198785	16767		35	1.59		HGNC	p.H377Q		GRIN3A		SNV							ENST00000361820	protein_coding	getma.org/?cm=var&var=hg19,9,104449051,A,T&fts=all		Superfamily_domains:SSF53822,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163		H/Q		T	low	1732/7770		getma.org/?cm=msa&ty=f&p=NMD3A_HUMAN&rb=201&re=400&var=H377Q	tolerated(0.29)				YES	GRIN3A,missense_variant,p.His377Gln,ENST00000361820,NM_133445.2;							MODERATE	1131/3348	H377Q	NMD3A_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000355155		CCDS6758.1			1	
CCM2	0	LGGM	GRCh37	7	45109477	45109477	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	14	.	.	ENST00000381112.3:c.725A>T	p.Tyr242Phe	p.Y242F	ENST00000381112	NM_001029835.2	242	tAc/tTc	0	1		UPI000006CE51	0	NA	ENST00000258781		ENSG00000136280	21708		27	2.585		HGNC	p.Y242F		CCM2		SNV			1				ENST00000381112	protein_coding	getma.org/?cm=var&var=hg19,7,45109477,A,T&fts=all		PROSITE_profiles:PS01179,hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF4,Gene3D:2.30.29.30		Y/F		T	medium	811/1894		getma.org/?cm=msa&ty=f&p=CCM2_HUMAN&rb=3&re=442&var=Y221F	deleterious(0)					CCM2,missense_variant,p.Tyr242Phe,ENST00000381112,NM_001029835.2;CCM2,missense_variant,p.Tyr215Phe,ENST00000475551,;CCM2,missense_variant,p.Tyr221Phe,ENST00000258781,NM_031443.3;CCM2,missense_variant,p.Tyr163Phe,ENST00000541586,NM_001167934.1;CCM2,missense_variant,p.Tyr47Phe,ENST00000480382,;CCM2,intron_variant,,ENST00000544363,NM_001167935.1;CCM2,intron_variant,,ENST00000474617,;CCM2,non_coding_transcript_exon_variant,,ENST00000461377,;CCM2,non_coding_transcript_exon_variant,,ENST00000482714,;CCM2,non_coding_transcript_exon_variant,,ENST00000472223,;CCM2,non_coding_transcript_exon_variant,,ENST00000478582,;CCM2,missense_variant,p.Tyr221Phe,ENST00000488727,;CCM2,non_coding_transcript_exon_variant,,ENST00000481194,;CCM2,non_coding_transcript_exon_variant,,ENST00000477605,;CCM2,non_coding_transcript_exon_variant,,ENST00000480658,;CCM2,non_coding_transcript_exon_variant,,ENST00000492883,;CCM2,upstream_gene_variant,,ENST00000470837,;							MODERATE	662/1335	Y221F	CCM2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000258781		CCDS5500.1			1	
PIK3CG	0	LGGM	GRCh37	7	106545759	106545759	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	38	15	.	.	ENST00000359195.3:c.3236G>T	p.Gly1079Val	p.G1079V	ENST00000359195	NM_002649.2	1079	gGa/gTa	0	1	1	UPI00000746B8	0	getma.org/pdb.php?prot=PK3CG_HUMAN&from=1045&to=1102&var=G1079V	ENST00000359195		ENSG00000105851	8978		53	1.59		HGNC	p.G1079V		PIK3CG		SNV							ENST00000496166	protein_coding	getma.org/?cm=var&var=hg19,7,106545759,G,T&fts=all		Gene3D:1.10.1070.11,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,SMART_domains:SM00146,Superfamily_domains:SSF56112		G/V		T	low	3546/5377		getma.org/?cm=msa&ty=f&p=PK3CG_HUMAN&rb=1045&re=1102&var=G1079V	deleterious(0)	Q24M88_HUMAN,E9PDN7_HUMAN			YES	PIK3CG,missense_variant,p.Gly1079Val,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,missense_variant,p.Gly1079Val,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Gly1079Val,ENST00000440650,;							MODERATE	3236/3309	G1079V	PK3CG_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000352121		CCDS5739.1			1	
UAP1L1	0	LGGM	GRCh37	9	139973889	139973889	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	15	.	.	ENST00000409858.3:c.1025A>T	p.Lys342Met	p.K342M	ENST00000409858	NM_207309.2	342	aAg/aTg	0	1	1	UPI000016047B	0	getma.org/pdb.php?prot=UAP1L_HUMAN&from=81&to=461&var=K342M	ENST00000409858		ENSG00000197355	28082		37	1.33		HGNC	p.K342M		UAP1L1		SNV							ENST00000409858	protein_coding	getma.org/?cm=var&var=hg19,9,139973889,A,T&fts=all		Superfamily_domains:SSF53448,Pfam_domain:PF01704,Gene3D:3.90.550.10,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF6		K/M		T	low	1057/3365		getma.org/?cm=msa&ty=f&p=UAP1L_HUMAN&rb=81&re=461&var=K342M	deleterious(0.01)				YES	UAP1L1,missense_variant,p.Lys342Met,ENST00000409858,NM_207309.2;UAP1L1,missense_variant,p.Lys219Met,ENST00000360271,;UAP1L1,downstream_gene_variant,,ENST00000476184,;UAP1L1,non_coding_transcript_exon_variant,,ENST00000474787,;							MODERATE	1025/1524	K342M	UAP1L_HUMAN			Transcript		possibly_damaging(0.48)	.	ENSP00000386935		CCDS7028.2			1	
GLRA1	0	LGGM	GRCh37	5	151239515	151239515	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	29	15	.	.	ENST00000455880.2:c.307T>A	p.Tyr103Asn	p.Y103N	ENST00000455880		103	Tat/Aat	0	1	1	UPI0000DA6BF2	0	getma.org/pdb.php?prot=GLRA1_HUMAN&from=38&to=248&var=Y103N	ENST00000455880		ENSG00000145888	4326		44	1.405		HGNC	p.Y103N		GLRA1		SNV			1				ENST00000274576	protein_coding	getma.org/?cm=var&var=hg19,5,151239515,A,T&fts=all		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,Prints_domain:PR01673,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF213,TIGRFAM_domain:TIGR00860		Y/N		T	low	594/1707		getma.org/?cm=msa&ty=f&p=GLRA1_HUMAN&rb=38&re=248&var=Y103N	deleterious(0)				YES	GLRA1,missense_variant,p.Tyr103Asn,ENST00000274576,NM_001146040.1,NM_000171.3;GLRA1,missense_variant,p.Tyr103Asn,ENST00000455880,;GLRA1,missense_variant,p.Tyr20Asn,ENST00000545569,;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,3_prime_UTR_variant,,ENST00000462581,;							MODERATE	307/1374	Y103N	GLRA1_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000411593		CCDS54942.1			1	
CHM	0	LGGM	GRCh37	X	85133981	85133981	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	4	15	.	.	ENST00000357749.2:c.1598A>T	p.Glu533Val	p.E533V	ENST00000357749	NM_000390.2	533	gAa/gTa	0	1	1	UPI0000049C8C	0	getma.org/pdb.php?prot=RAE1_HUMAN&from=200&to=549&var=E533V	ENST00000357749		ENSG00000188419	1940		19	2.34		HGNC	p.E533V		CHM		SNV			1				ENST00000357749	protein_coding	getma.org/?cm=var&var=hg19,X,85133981,T,A&fts=all		hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF7,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF54373		E/V		A	medium	1628/5442		getma.org/?cm=msa&ty=f&p=RAE1_HUMAN&rb=200&re=549&var=E533V	deleterious(0.01)	B4DRL9_HUMAN			YES	CHM,missense_variant,p.Glu533Val,ENST00000357749,NM_000390.2;CHM,missense_variant,p.Glu385Val,ENST00000537751,;CHM,intron_variant,,ENST00000467744,;							MODERATE	1598/1962	E533V	RAE1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000350386		CCDS14454.1			1	
PRX	0	LGGM	GRCh37	19	40901670	40901670	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	24	15	.	.	ENST00000324001.7:c.2589A>T	p.Gly863=	p.G863=	ENST00000324001	NM_181882.2	863	ggA/ggT	0	1	1	UPI000044CC1A	0		ENST00000324001		ENSG00000105227	13797		39			HGNC	p.G863G		PRX		SNV			1				ENST00000324001	protein_coding			hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348		G		A		2860/4855							YES	PRX,synonymous_variant,p.=,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;							LOW	2589/4386		PRAX_HUMAN			Transcript			.	ENSP00000326018		CCDS33028.1			1	
TUBB1	0	LGGM	GRCh37	20	57599333	57599333	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	16	15	.	.	ENST00000217133.1:c.851T>A	p.Leu284His	p.L284H	ENST00000217133	NM_030773.3	284	cTc/cAc	0	1	1	UPI0000071B14	0	getma.org/pdb.php?prot=TBB1_HUMAN&from=261&to=383&var=L284H	ENST00000217133		ENSG00000101162	16257		31	3.21		HGNC	p.L284H		TUBB1		SNV			1				ENST00000217133	protein_coding	getma.org/?cm=var&var=hg19,20,57599333,T,A&fts=all		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF74,Gene3D:3.30.1330.20,Pfam_domain:PF03953,SMART_domains:SM00865,Superfamily_domains:SSF55307		L/H		A	medium	1120/3496		getma.org/?cm=msa&ty=f&p=TBB1_HUMAN&rb=261&re=383&var=L284H	deleterious_low_confidence(0.01)				YES	TUBB1,missense_variant,p.Leu284His,ENST00000217133,NM_030773.3;ATP5E,downstream_gene_variant,,ENST00000243997,NM_006886.3;ATP5E,downstream_gene_variant,,ENST00000395659,;ATP5E,downstream_gene_variant,,ENST00000395663,;							MODERATE	851/1356	L284H	TBB1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000217133		CCDS13475.1			1	
DNAH5	0	LGGM	GRCh37	5	13788983	13788983	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	43	15	.	.	ENST00000265104.4:c.8489T>A	p.Ile2830Lys	p.I2830K	ENST00000265104	NM_001369.2	2830	aTa/aAa	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		58	3.135		HGNC	p.I2830K		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13788983,A,T&fts=all		Superfamily_domains:SSF52540,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		I/K		T	medium	8594/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=2826&re=2916&var=I2830K		O95496_HUMAN			YES	DNAH5,missense_variant,p.Ile2830Lys,ENST00000265104,NM_001369.2;							MODERATE	8489/13875	I2830K	DYH5_HUMAN			Transcript		benign(0.308)	.	ENSP00000265104		CCDS3882.1			1	
DPYSL5	0	LGGM	GRCh37	2	27167587	27167587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	15	.	.	ENST00000288699.6:c.1504C>A	p.Pro502Thr	p.P502T	ENST00000288699	NM_001253724.1	502	Cct/Act	0	1	1	UPI00000411CF	0	NA	ENST00000288699		ENSG00000157851	20637		35	-0.79		HGNC	p.P502T		DPYSL5		SNV							ENST00000288699	protein_coding	getma.org/?cm=var&var=hg19,2,27167587,C,A&fts=all		hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF58		P/T		A	neutral	1662/5209		getma.org/?cm=msa&ty=f&p=DPYL5_HUMAN&rb=407&re=564&var=P502T	tolerated(0.32)	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN			YES	DPYSL5,missense_variant,p.Pro502Thr,ENST00000288699,NM_001253724.1,NM_020134.3;DPYSL5,missense_variant,p.Pro502Thr,ENST00000401478,NM_001253723.1;DPYSL5,non_coding_transcript_exon_variant,,ENST00000484882,;							MODERATE	1504/1695	P502T	DPYL5_HUMAN			Transcript		benign(0)	.	ENSP00000288699		CCDS1730.1			1	
XIRP2	0	LGGM	GRCh37	2	168103824	168103824	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	25	16	.	.	ENST00000409195.1:c.5922T>C	p.Asn1974=	p.N1974=	ENST00000409195	NM_152381.5	1974	aaT/aaC	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		41			HGNC	p.N1752N	rs756270786	XIRP2		SNV							ENST00000409273	protein_coding			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		N		C		6011/12675	1.53E-05			J3KNB1_HUMAN			YES	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;							LOW	5922/10650					Transcript			.	ENSP00000386840	8.28E-06	CCDS42769.1			1	
PLCB1	0	LGGM	GRCh37	20	8698368	8698379	+	inframe_deletion	In_Frame_Del	DEL	TTTGGTGAAAAA	TTTGGTGAAAAA	-	novel	by Submitter	H060607	H060607N.bam	TTTGGTGAAAAA	TTTGGTGAAAAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	54	16	.	.	ENST00000338037.6:c.1387_1398del	p.Leu463_Asn466del	p.L463_N466del	ENST00000338037	NM_015192.3	462	atTTTGGTGAAAAAt/att	0	1	1	UPI0000131A8F	0		ENST00000338037		ENSG00000182621	15917		70			HGNC	p.462_466del		PLCB1		deletion			1				ENST00000378641	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,Pfam_domain:PF00388,Gene3D:3.20.20.190,SMART_domains:SM00148,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695,Prints_domain:PR00390		ILVKN/I		-		1413-1424/6729							YES	PLCB1,inframe_deletion,p.Leu463_Asn466del,ENST00000378641,NM_182734.2;PLCB1,inframe_deletion,p.Leu463_Asn466del,ENST00000338037,NM_015192.3;PLCB1,inframe_deletion,p.Leu463_Asn466del,ENST00000378637,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,inframe_deletion,p.Leu204_Asn207del,ENST00000487210,;							MODERATE	1386-1397/3651		PLCB1_HUMAN			Transcript	1		.	ENSP00000338185		CCDS13102.1			1	
LAMP1	0	LGGM	GRCh37	13	113964001	113964001	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	16	.	.	ENST00000332556.4:c.227A>G	p.Asn76Ser	p.N76S	ENST00000332556	NM_005561.3	76	aAc/aGc	0	1	1	UPI0000072D40	0	NA	ENST00000332556		ENSG00000185896	6499		38	1.545		HGNC	p.N76S		LAMP1		SNV							ENST00000332556	protein_coding	getma.org/?cm=var&var=hg19,13,113964001,A,G&fts=all		PROSITE_profiles:PS51407,hmmpanther:PTHR11506,hmmpanther:PTHR11506:SF27		N/S		G	low	421/2699		getma.org/?cm=msa&ty=f&p=LAMP1_HUMAN&rb=1&re=110&var=N76S	tolerated(0.45)	B3KRY3_HUMAN			YES	LAMP1,missense_variant,p.Asn76Ser,ENST00000332556,NM_005561.3;LAMP1,missense_variant,p.Asn76Ser,ENST00000397181,;LAMP1,non_coding_transcript_exon_variant,,ENST00000472564,;							MODERATE	227/1254	N76S	LAMP1_HUMAN			Transcript		benign(0.006)	.	ENSP00000333298		CCDS41909.1			1	
FCGBP	0	LGGM	GRCh37	19	40433747	40433747	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	22	16	.	.	ENST00000221347.6:c.522G>T	p.Leu174=	p.L174=	ENST00000221347	NM_003890.2	174	ctG/ctT	0	1	1	UPI00001B0455	0		ENST00000221347		ENSG00000090920	13572		38			HGNC	p.L174L		FCGBP		SNV							ENST00000221347	protein_coding					L		A		530/16390							YES	FCGBP,synonymous_variant,p.=,ENST00000221347,NM_003890.2;							LOW	522/16218		FCGBP_HUMAN			Transcript			.	ENSP00000221347		CCDS12546.1			1	
FCGBP	0	LGGM	GRCh37	19	40433746	40433746	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	16	.	.	ENST00000221347.6:c.523A>T	p.Lys175Ter	p.K175*	ENST00000221347	NM_003890.2	175	Aag/Tag	0	1	1	UPI00001B0455	0	NA	ENST00000221347		ENSG00000090920	13572		37	0		HGNC	p.K175X		FCGBP		SNV							ENST00000221347	protein_coding	getma.org/?cm=var&var=hg19,19,40433746,T,A&fts=all				K/*		A	NA	531/16390		NA					YES	FCGBP,stop_gained,p.Lys175Ter,ENST00000221347,NM_003890.2;							HIGH	523/16218	K175*	FCGBP_HUMAN			Transcript			.	ENSP00000221347		CCDS12546.1			1	
ODF2L	0	LGGM	GRCh37	1	86847974	86847974	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	39	16	.	.	ENST00000359242.3:c.575A>T	p.Gln192Leu	p.Q192L	ENST00000359242	NM_001007022.2	192	cAa/cTa	0	1		UPI0000D61F52	0	NA	ENST00000317336		ENSG00000122417	29225		55	1.625		HGNC	p.Q68L		ODF2L		SNV							ENST00000460698	protein_coding	getma.org/?cm=var&var=hg19,1,86847974,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162:SF7,hmmpanther:PTHR23162		Q/L		A	low	922/2381		getma.org/?cm=msa&ty=f&p=ODF2L_HUMAN&rb=1&re=277&var=Q192L	deleterious(0)	G5E956_HUMAN,B5ME44_HUMAN				ODF2L,missense_variant,p.Gln192Leu,ENST00000359242,NM_001007022.2;ODF2L,missense_variant,p.Gln192Leu,ENST00000294678,NM_020729.2;ODF2L,missense_variant,p.Gln192Leu,ENST00000317336,NM_001184765.1;ODF2L,missense_variant,p.Gln192Leu,ENST00000370567,;ODF2L,missense_variant,p.Gln61Leu,ENST00000394731,;ODF2L,missense_variant,p.Gln192Leu,ENST00000370566,NM_001184766.1;ODF2L,missense_variant,p.Gln68Leu,ENST00000460698,;ODF2L,intron_variant,,ENST00000479890,;ODF2L,downstream_gene_variant,,ENST00000478286,;ODF2L,downstream_gene_variant,,ENST00000394733,;ODF2L,downstream_gene_variant,,ENST00000486215,;ODF2L,3_prime_UTR_variant,,ENST00000488879,;ODF2L,non_coding_transcript_exon_variant,,ENST00000480440,;ODF2L,non_coding_transcript_exon_variant,,ENST00000472368,;ODF2L,intron_variant,,ENST00000496592,;							MODERATE	575/2022	Q192L				Transcript		probably_damaging(0.943)	.	ENSP00000320165					1	
CD53	0	LGGM	GRCh37	1	111435058	111435058	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	30	16	.	.	ENST00000271324.5:c.155T>A	p.Leu52Gln	p.L52Q	ENST00000271324	NM_000560.3	52	cTg/cAg	0	1	1	UPI000000D991	0	NA	ENST00000271324		ENSG00000143119	1686		46	1.285		HGNC	p.L52Q		CD53		SNV							ENST00000271324	protein_coding	getma.org/?cm=var&var=hg19,1,111435058,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF39,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259		L/Q		A	low	267/1505		getma.org/?cm=msa&ty=f&p=CD53_HUMAN&rb=8&re=210&var=L52Q	deleterious(0.02)				YES	CD53,missense_variant,p.Leu52Gln,ENST00000271324,NM_000560.3,NM_001040033.1;CD53,missense_variant,p.Leu52Gln,ENST00000429072,;CD53,non_coding_transcript_exon_variant,,ENST00000476408,;CD53,non_coding_transcript_exon_variant,,ENST00000471220,;CD53,upstream_gene_variant,,ENST00000497404,;							MODERATE	155/660	L52Q	CD53_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000271324		CCDS829.1			1	
TROVE2	0	LGGM	GRCh37	1	193038326	193038326	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	50	16	.	.	ENST00000367446.3:c.142A>T	p.Ile48Phe	p.I48F	ENST00000367446	NM_004600.5	48	Atc/Ttc	0	1		UPI0000072E7F	0	getma.org/pdb.php?prot=RO60_HUMAN&from=16&to=369&var=I48F	ENST00000367441		ENSG00000116747	11313		66	1.59		HGNC	p.I48F		TROVE2		SNV							ENST00000367443	protein_coding	getma.org/?cm=var&var=hg19,1,193038326,A,T&fts=all		Superfamily_domains:0051422,Pfam_domain:PF05731,PROSITE_profiles:PS50988,hmmpanther:PTHR14202,hmmpanther:PTHR14202:SF0		I/F		T	low	181/1791		getma.org/?cm=msa&ty=f&p=RO60_HUMAN&rb=16&re=369&var=I48F	deleterious(0.04)	G5E9R9_HUMAN,D6RDN1_HUMAN				TROVE2,missense_variant,p.Ile48Phe,ENST00000367446,NM_004600.5;TROVE2,missense_variant,p.Ile48Phe,ENST00000400968,NM_001173524.1;TROVE2,missense_variant,p.Ile48Phe,ENST00000367443,NM_001173525.1;TROVE2,missense_variant,p.Ile48Phe,ENST00000367445,NM_001042370.2;TROVE2,missense_variant,p.Ile48Phe,ENST00000367444,NM_001042369.2;TROVE2,missense_variant,p.Ile48Phe,ENST00000367441,;TROVE2,5_prime_UTR_variant,,ENST00000416058,;TROVE2,intron_variant,,ENST00000432079,;TROVE2,intron_variant,,ENST00000415442,;TROVE2,downstream_gene_variant,,ENST00000506303,;TROVE2,upstream_gene_variant,,ENST00000512587,;TROVE2,intron_variant,,ENST00000460715,;							MODERATE	142/1617	I48F	RO60_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000356411		CCDS1379.1			1	
BTN3A1	0	LGGM	GRCh37	6	26409784	26409784	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	16	.	.	ENST00000289361.6:c.739A>T	p.Arg247Trp	p.R247W	ENST00000289361	NM_001145009.1	247	Agg/Tgg	0	1	1	UPI000013C904	0	NA	ENST00000289361		ENSG00000026950	1138		51	0.695		HGNC	p.R247W		BTN3A1		SNV							ENST00000425234	protein_coding	getma.org/?cm=var&var=hg19,6,26409784,A,T&fts=all		hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF56		R/W		T	neutral	1107/3434		getma.org/?cm=msa&ty=f&p=BT3A1_HUMAN&rb=232&re=341&var=R247W	deleterious(0.01)	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN			YES	BTN3A1,missense_variant,p.Arg247Trp,ENST00000289361,NM_001145009.1,NM_007048.5,NM_001145008.1;BTN3A1,missense_variant,p.Arg195Trp,ENST00000414912,;BTN3A1,missense_variant,p.Arg247Trp,ENST00000425234,;BTN3A1,missense_variant,p.Arg247Trp,ENST00000476549,NM_194441.2;BTN3A1,downstream_gene_variant,,ENST00000506698,;BTN3A1,downstream_gene_variant,,ENST00000450085,;BTN3A1,downstream_gene_variant,,ENST00000427334,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000513047,;BTN3A1,upstream_gene_variant,,ENST00000502361,;							MODERATE	739/1542	R247W	BT3A1_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000289361		CCDS4608.1			1	
MYO18B	0	LGGM	GRCh37	22	26423547	26423547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	17	.	.	ENST00000335473.7:c.7607A>T	p.Asp2536Val	p.D2536V	ENST00000335473	NM_032608.5	2536	gAc/gTc	0	1		UPI0000207402	0	NA	ENST00000536101		ENSG00000133454	18150		52	1.79		HGNC	p.D178V		MYO18B		SNV							ENST00000540454	protein_coding	getma.org/?cm=var&var=hg19,22,26423547,A,T&fts=all				D/V		T	low	7866/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=2097&re=2565&var=D2536V	deleterious(0)	Q8N903_HUMAN				MYO18B,missense_variant,p.Asp2536Val,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Asp2537Val,ENST00000407587,;MYO18B,missense_variant,p.Asp2536Val,ENST00000536101,;MYO18B,missense_variant,p.Asp486Val,ENST00000543971,;MYO18B,missense_variant,p.Asp178Val,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	7607/7704	D2536V				Transcript		possibly_damaging(0.853)	.	ENSP00000441229		CCDS54507.1			1	
SLC12A6	0	LGGM	GRCh37	15	34538053	34538053	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	18	17	.	.	ENST00000354181.3:c.1665G>T	p.Val555=	p.V555=	ENST00000354181		555	gtG/gtT	0	1	1	UPI0000135427	0		ENST00000354181		ENSG00000140199	10914		35			HGNC	p.V496V		SLC12A6		SNV			1				ENST00000458406	protein_coding			hmmpanther:PTHR11827:SF51,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930		V		A		2158/4568				H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	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,synonymous_variant,p.=,ENST00000561080,;SLC12A6,synonymous_variant,p.=,ENST00000559664,;SLC12A6,synonymous_variant,p.=,ENST00000559523,;SLC12A6,upstream_gene_variant,,ENST00000558950,;SLC12A6,upstream_gene_variant,,ENST00000560023,;							LOW	1665/3453		S12A6_HUMAN			Transcript			.	ENSP00000346112		CCDS58352.1			1	
CD63	0	LGGM	GRCh37	12	56121090	56121090	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	36	17	.	.	ENST00000549117.1:c.100G>A	p.Gly34Arg	p.G34R	ENST00000549117	NM_001257389.1	34	Ggg/Agg	0	1		UPI000013CF91	0	NA	ENST00000257857		ENSG00000135404	1692		53	1.15		HGNC	p.G34R		CD63		SNV							ENST00000550050	protein_coding	getma.org/?cm=var&var=hg19,12,56121090,C,T&fts=all		Prints_domain:PR00259,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF212,Transmembrane_helices:TMhelix		G/R		T	low	379/1070		getma.org/?cm=msa&ty=f&p=CD63_HUMAN&rb=9&re=231&var=G34R	tolerated(0.35)	F8W022_HUMAN,F8VWK8_HUMAN,F8VV56_HUMAN,F8VNT9_HUMAN				CD63,missense_variant,p.Gly34Arg,ENST00000549117,NM_001257389.1;CD63,missense_variant,p.Gly34Arg,ENST00000257857,;CD63,missense_variant,p.Gly34Arg,ENST00000420846,NM_001780.5;CD63,missense_variant,p.Gly34Arg,ENST00000552692,NM_001257391.1;CD63,missense_variant,p.Gly34Arg,ENST00000552164,NM_001267698.1;CD63,missense_variant,p.Gly34Arg,ENST00000551173,NM_001257390.1;CD63,missense_variant,p.Gly34Arg,ENST00000546457,;CD63,5_prime_UTR_variant,,ENST00000550776,NM_001257401.1;CD63,5_prime_UTR_variant,,ENST00000546939,NM_001257400.1;CD63,intron_variant,,ENST00000552754,NM_001257392.1;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,;CD63,upstream_gene_variant,,ENST00000548898,;CD63,upstream_gene_variant,,ENST00000548160,;CD63,upstream_gene_variant,,ENST00000552067,;RP11-644F5.11,upstream_gene_variant,,ENST00000552576,;RDH5,downstream_gene_variant,,ENST00000553160,;CD63,missense_variant,p.Gly34Arg,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,,ENST00000548123,;CD63,upstream_gene_variant,,ENST00000548117,;CD63,upstream_gene_variant,,ENST00000555199,;							MODERATE	100/717	G34R	CD63_HUMAN			Transcript		benign(0.013)	.	ENSP00000257857		CCDS8890.1			1	
HGS	0	LGGM	GRCh37	17	79661958	79661958	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	34	17	.	.	ENST00000329138.4:c.980C>T	p.Ala327Val	p.A327V	ENST00000329138	NM_004712.4	327	gCa/gTa	0	1	1	UPI000004493D	0	NA	ENST00000329138		ENSG00000185359	4897		51	2.775		HGNC	p.A47V		HGS		SNV							ENST00000571237	protein_coding	getma.org/?cm=var&var=hg19,17,79661958,C,T&fts=all		PIRSF_domain:PIRSF036956,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF79		A/V		T	medium	1115/2970		getma.org/?cm=msa&ty=f&p=HGS_HUMAN&rb=222&re=405&var=A327V	deleterious(0)	I3L2H4_HUMAN,I3L165_HUMAN			YES	HGS,missense_variant,p.Ala327Val,ENST00000329138,NM_004712.4;HGS,missense_variant,p.Ala47Val,ENST00000571237,;HGS,downstream_gene_variant,,ENST00000572392,;HGS,non_coding_transcript_exon_variant,,ENST00000575058,;HGS,upstream_gene_variant,,ENST00000571647,;HGS,downstream_gene_variant,,ENST00000573080,;HGS,downstream_gene_variant,,ENST00000576498,;HGS,downstream_gene_variant,,ENST00000576393,;HGS,upstream_gene_variant,,ENST00000570355,;HGS,downstream_gene_variant,,ENST00000576087,;HGS,upstream_gene_variant,,ENST00000573949,;HGS,upstream_gene_variant,,ENST00000571885,;							MODERATE	980/2334	A327V	HGS_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000331201		CCDS11784.1			1	
NPSR1	0	LGGM	GRCh37	7	34884552	34884552	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	33	17	.	.	ENST00000359791.1:c.802G>A	p.Ala268Thr	p.A268T	ENST00000359791	NM_207173.1	268	Gca/Aca	0	1		UPI0000159341	0	getma.org/pdb.php?prot=NPSR1_HUMAN&from=66&to=330&var=A268T	ENST00000360581		ENSG00000187258	23631		50	2.94		HGNC	p.A268T		NPSR1		SNV			1				ENST00000381539	protein_coding	getma.org/?cm=var&var=hg19,7,34884552,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00896,PROSITE_profiles:PS50262,hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321		A/T		A	medium	930/1567		getma.org/?cm=msa&ty=f&p=NPSR1_HUMAN&rb=66&re=330&var=A268T	deleterious(0.02)					NPSR1,missense_variant,p.Ala268Thr,ENST00000360581,NM_207172.1;NPSR1,missense_variant,p.Ala268Thr,ENST00000359791,NM_207173.1;NPSR1,missense_variant,p.Ala257Thr,ENST00000531252,;NPSR1,missense_variant,p.Ala202Thr,ENST00000381542,;NPSR1,missense_variant,p.Ala268Thr,ENST00000381539,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;NPSR1,3_prime_UTR_variant,,ENST00000381544,;							MODERATE	802/1116	A268T	NPSR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353788		CCDS5444.1			1	
H3F3A	0	LGGM	GRCh37	1	226253364	226253364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	41	17	.	.	ENST00000366813.1:c.136A>T	p.Thr46Ser	p.T46S	ENST00000366813		46	Act/Tct	0	1	1	UPI00000007B0	0		ENST00000366813		ENSG00000163041	4764		58			HGNC	p.T46S		H3F3A		SNV							ENST00000366816	protein_coding			Gene3D:1.10.20.10,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113		T/S		T		511/1308			deleterious_low_confidence(0)	K7EK07_HUMAN,B4E380_HUMAN,B2R4P9_HUMAN			YES	H3F3A,missense_variant,p.Thr46Ser,ENST00000366814,;H3F3A,missense_variant,p.Thr46Ser,ENST00000366813,;H3F3A,missense_variant,p.Thr46Ser,ENST00000366815,NM_002107.4;H3F3A,missense_variant,p.Thr46Ser,ENST00000366816,;RP11-396C23.4,upstream_gene_variant,,ENST00000609423,;							MODERATE	136/411		H33_HUMAN			Transcript		benign(0.335)	.	ENSP00000355778		CCDS1550.1			1	
ZC3H7A	0	LGGM	GRCh37	16	11870711	11870711	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	11	17	.	.	ENST00000396516.2:c.361A>T	p.Ser121Cys	p.S121C	ENST00000396516		121	Agt/Tgt	0	1		UPI000000DB79	0	NA	ENST00000355758		ENSG00000122299	30959		28	1.355		HGNC	p.S121C		ZC3H7A		SNV							ENST00000355758	protein_coding	getma.org/?cm=var&var=hg19,16,11870711,T,A&fts=all		hmmpanther:PTHR14928:SF13,hmmpanther:PTHR14928,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		S/C		A	low	539/3825		getma.org/?cm=msa&ty=f&p=Z3H7A_HUMAN&rb=121&re=320&var=S121C	deleterious(0.04)	I3L3S2_HUMAN,I3L3F9_HUMAN,I3L382_HUMAN,I3L1Y3_HUMAN				ZC3H7A,missense_variant,p.Ser121Cys,ENST00000396516,;ZC3H7A,missense_variant,p.Ser121Cys,ENST00000355758,NM_014153.3;ZC3H7A,missense_variant,p.Ser121Cys,ENST00000571198,;ZC3H7A,missense_variant,p.Ser121Cys,ENST00000572870,;ZC3H7A,upstream_gene_variant,,ENST00000576009,;ZC3H7A,downstream_gene_variant,,ENST00000576018,;ZC3H7A,downstream_gene_variant,,ENST00000572781,;ZC3H7A,downstream_gene_variant,,ENST00000574995,;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000575170,;ZC3H7A,upstream_gene_variant,,ENST00000575041,;							MODERATE	361/2916	S121C	Z3H7A_HUMAN			Transcript		benign(0.008)	.	ENSP00000347999		CCDS10550.1			1	
MYH9	0	LGGM	GRCh37	22	36684953	36684953	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	21	17	.	.	ENST00000216181.5:c.4590A>T	p.Leu1530=	p.L1530=	ENST00000216181	NM_002473.4	1530	ctA/ctT	0	1	1	UPI000012FB80	0		ENST00000216181		ENSG00000100345	7579		38			HGNC	p.L1530L		MYH9		SNV			1				ENST00000216181	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257		L		A		4821/7501				Q9UMJ0_HUMAN,B1AH99_HUMAN			YES	MYH9,synonymous_variant,p.=,ENST00000216181,NM_002473.4;MYH9,upstream_gene_variant,,ENST00000475726,;MYH9,upstream_gene_variant,,ENST00000486218,;							LOW	4590/5883		MYH9_HUMAN			Transcript			.	ENSP00000216181		CCDS13927.1			1	
DSC3	0	LGGM	GRCh37	18	28584169	28584169	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	38	18	.	.	ENST00000360428.4:c.2052A>T	p.Thr684=	p.T684=	ENST00000360428	NM_001941.3	684	acA/acT	0	1	1	UPI000004CAAD	0		ENST00000360428		ENSG00000134762	3037		56			HGNC	p.T684T		DSC3		SNV			1				ENST00000360428	protein_coding			hmmpanther:PTHR24025:SF6,hmmpanther:PTHR24025		T		A		2133/6939							YES	DSC3,synonymous_variant,p.=,ENST00000434452,NM_024423.2;DSC3,synonymous_variant,p.=,ENST00000360428,NM_001941.3;DSC3,synonymous_variant,p.=,ENST00000584980,;							LOW	2052/2691		DSC3_HUMAN			Transcript			.	ENSP00000353608		CCDS32810.1			1	
ASPM	0	LGGM	GRCh37	1	197074134	197074134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	73	18	.	.	ENST00000367409.4:c.4247G>A	p.Arg1416Lys	p.R1416K	ENST00000367409	NM_018136.4	1416	aGa/aAa	0	1	1	UPI0000458904	0	NA	ENST00000367409		ENSG00000066279	19048		91	1.935		HGNC	p.R1416K		ASPM		SNV			1				ENST00000367409	protein_coding	getma.org/?cm=var&var=hg19,1,197074134,C,T&fts=all		PROSITE_profiles:PS50096,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115		R/K		T	medium	4504/10887		getma.org/?cm=msa&ty=f&p=ASPM_HUMAN&rb=1393&re=1422&var=R1416K	tolerated(0.17)				YES	ASPM,missense_variant,p.Arg1416Lys,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;							MODERATE	4247/10434	R1416K	ASPM_HUMAN			Transcript		benign(0.443)	.	ENSP00000356379		CCDS1389.1			1	
CCNA1	0	LGGM	GRCh37	13	37011919	37011919	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	38	18	.	.	ENST00000255465.4:c.451T>A	p.Ser151Thr	p.S151T	ENST00000255465		151	Tcg/Acg	0	1	1	UPI000012759F	0	NA	ENST00000255465		ENSG00000133101	1577		56	0.69		HGNC	p.S107T		CCNA1		SNV							ENST00000440264	protein_coding	getma.org/?cm=var&var=hg19,13,37011919,T,A&fts=all		PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177:SF68,hmmpanther:PTHR10177		S/T		A	neutral	715/1879		getma.org/?cm=msa&ty=f&p=CCNA1_HUMAN&rb=37&re=188&var=S151T	tolerated(0.63)	Q9UNG8_HUMAN,F6KX25_HUMAN			YES	CCNA1,missense_variant,p.Ser150Thr,ENST00000418263,NM_003914.3,NM_001111045.1;CCNA1,missense_variant,p.Ser151Thr,ENST00000255465,;CCNA1,missense_variant,p.Ser107Thr,ENST00000440264,NM_001111046.1;CCNA1,missense_variant,p.Ser107Thr,ENST00000449823,NM_001111047.1;CCNA1,downstream_gene_variant,,ENST00000463403,;							MODERATE	451/1398	S151T	CCNA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000255465		CCDS9357.1			1	
BAG4	0	LGGM	GRCh37	8	38067798	38067798	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	19	18	.	.	ENST00000287322.4:c.1161G>T	p.Leu387=	p.L387=	ENST00000287322	NM_004874.3	387	ctG/ctT	0	1	1	UPI0000126769	0		ENST00000287322		ENSG00000156735	940		37			HGNC	p.L351L		BAG4		SNV							ENST00000432471	protein_coding			PROSITE_profiles:PS51035,hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329,Gene3D:1.20.58.120,Pfam_domain:PF02179,SMART_domains:SM00264,Superfamily_domains:SSF63491		L		T		1432/4453							YES	BAG4,synonymous_variant,p.=,ENST00000287322,NM_004874.3;BAG4,synonymous_variant,p.=,ENST00000432471,NM_001204878.1;BAG4,downstream_gene_variant,,ENST00000521311,;BAG4,downstream_gene_variant,,ENST00000521282,;							LOW	1161/1374		BAG4_HUMAN			Transcript			.	ENSP00000287322		CCDS6104.1			1	
GALNT13	0	LGGM	GRCh37	2	155099334	155099334	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	20	18	.	.	ENST00000392825.3:c.602G>C	p.Gly201Ala	p.G201A	ENST00000392825	NM_052917.2	201	gGg/gCg	0	1	1	UPI0000051E22	0	getma.org/pdb.php?prot=GLT13_HUMAN&from=118&to=302&var=G201A	ENST00000392825		ENSG00000144278	23242		38	2.47		HGNC	p.G201A		GALNT13		SNV							ENST00000409237	protein_coding	getma.org/?cm=var&var=hg19,2,155099334,G,C&fts=all		Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21		G/A		C	medium	1169/5536		getma.org/?cm=msa&ty=f&p=GLT13_HUMAN&rb=118&re=302&var=G201A	tolerated(0.19)	Q68VI8_HUMAN			YES	GALNT13,missense_variant,p.Gly201Ala,ENST00000392825,NM_052917.2;GALNT13,missense_variant,p.Gly201Ala,ENST00000409237,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;							MODERATE	602/1671	G201A	GLT13_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000376570		CCDS2199.1			1	
CYP2J2	0	LGGM	GRCh37	1	60377353	60377353	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	36	18	.	.	ENST00000371204.3:c.611A>T	p.Gln204Leu	p.Q204L	ENST00000371204	NM_000775.2	204	cAg/cTg	0	1	1	UPI00001282BF	0	getma.org/pdb.php?prot=CP2J2_HUMAN&from=44&to=498&var=Q204L	ENST00000371204		ENSG00000134716	2634		54	2.285		HGNC	p.Q204L		CYP2J2		SNV							ENST00000371204	protein_coding	getma.org/?cm=var&var=hg19,1,60377353,T,A&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF91,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463		Q/L		A	medium	655/1896		getma.org/?cm=msa&ty=f&p=CP2J2_HUMAN&rb=44&re=498&var=Q204L	tolerated(0.14)	Q96RX4_HUMAN			YES	CYP2J2,missense_variant,p.Gln204Leu,ENST00000371204,NM_000775.2;CYP2J2,non_coding_transcript_exon_variant,,ENST00000492633,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000469406,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000466095,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000468257,;							MODERATE	611/1509	Q204L	CP2J2_HUMAN			Transcript		benign(0.035)	.	ENSP00000360247		CCDS613.1			1	
POLQ	0	LGGM	GRCh37	3	121158847	121158847	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	25	18	.	.	ENST00000264233.5:c.7381A>T	p.Lys2461Ter	p.K2461*	ENST00000264233	NM_199420.3	2461	Aaa/Taa	0	1	1	UPI0000D61B5F	0	NA	ENST00000264233		ENSG00000051341	9186		43	0		HGNC	p.K2461X		POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121158847,T,A&fts=all		Gene3D:1.10.150.20,Pfam_domain:PF00476,SMART_domains:SM00482,Superfamily_domains:SSF56672		K/*		A	NA	7510/8775		NA					YES	POLQ,stop_gained,p.Lys2461Ter,ENST00000264233,NM_199420.3;POLQ,downstream_gene_variant,,ENST00000474243,;							HIGH	7381/7773	K2461*	DPOLQ_HUMAN			Transcript			.	ENSP00000264233		CCDS33833.1			1	
CSMD1	0	LGGM	GRCh37	8	4495040	4495040	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	18	.	.	ENST00000537824.1:c.126T>A	p.Thr42=	p.T42=	ENST00000537824	NM_033225.5	42	acT/acA	0	1	1	UPI0001B723C6	0		ENST00000537824		ENSG00000183117	14026		41			HGNC	p.T42T		CSMD1		SNV							ENST00000400186	protein_coding			PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854		T		T		126/10695				F5GZ18_HUMAN			YES	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,;CSMD1,synonymous_variant,p.=,ENST00000539096,;							LOW	126/10695					Transcript			.	ENSP00000441462		CCDS55189.1			1	
HIST1H2BD	0	LGGM	GRCh37	6	26158764	26158764	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	36	19	.	.	ENST00000289316.2:c.367A>T	p.Thr123Ser	p.T123S	ENST00000289316	NM_138720.2	123	Acc/Tcc	0	1	1	UPI0000001BD3	0	getma.org/pdb.php?prot=H2B1D_HUMAN&from=103&to=126&var=T123S	ENST00000289316		ENSG00000158373	4747		55	1.05		HGNC	p.T123S		HIST1H2BD		SNV							ENST00000289316	protein_coding	getma.org/?cm=var&var=hg19,6,26158764,A,T&fts=all		Superfamily_domains:SSF47113,SMART_domains:SM00427,Gene3D:1.10.20.10,hmmpanther:PTHR23428		T/S		T	low	391/789		getma.org/?cm=msa&ty=f&p=H2B1D_HUMAN&rb=73&re=126&var=T123S	tolerated_low_confidence(0.08)				YES	HIST1H2BD,missense_variant,p.Thr123Ser,ENST00000289316,NM_138720.2;HIST1H2BD,missense_variant,p.Thr123Ser,ENST00000377777,NM_021063.3;HIST1H1E,downstream_gene_variant,,ENST00000304218,NM_005321.2;							MODERATE	367/381	T123S	H2B1D_HUMAN			Transcript		benign(0.023)	.	ENSP00000289316		CCDS4587.1			1	
TRNT1	0	LGGM	GRCh37	3	3189608	3189608	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	31	19	.	.	ENST00000251607.6:c.1075A>G	p.Thr359Ala	p.T359A	ENST00000251607	NM_182916.2	359	Act/Gct	0	1	1	UPI000013CD08	0	getma.org/pdb.php?prot=TRNT1_HUMAN&from=272&to=434&var=T359A	ENST00000251607		ENSG00000072756	17341		50	0.69		HGNC	p.T359A	rs768470872	TRNT1		SNV			1				ENST00000251607	protein_coding	getma.org/?cm=var&var=hg19,3,3189608,A,G&fts=all		Superfamily_domains:SSF81891,hmmpanther:PTHR13734,Gene3D:1.10.3090.10,hmmpanther:PTHR13734:SF5		T/A		G	neutral	1177/2276	1.50E-05	getma.org/?cm=msa&ty=f&p=TRNT1_HUMAN&rb=272&re=434&var=T359A	tolerated(0.53)	C9JRS7_HUMAN			YES	TRNT1,missense_variant,p.Thr359Ala,ENST00000251607,NM_182916.2;TRNT1,missense_variant,p.Thr339Ala,ENST00000280591,;CRBN,downstream_gene_variant,,ENST00000231948,NM_016302.3;CRBN,downstream_gene_variant,,ENST00000432408,NM_001173482.1;CRBN,downstream_gene_variant,,ENST00000424814,;TRNT1,missense_variant,p.Thr359Ala,ENST00000434583,;CRBN,downstream_gene_variant,,ENST00000491834,;CRBN,downstream_gene_variant,,ENST00000488263,;CRBN,downstream_gene_variant,,ENST00000459840,;CRBN,downstream_gene_variant,,ENST00000498442,;							MODERATE	1075/1305	T359A	TRNT1_HUMAN			Transcript		benign(0)	.	ENSP00000251607	8.24E-06	CCDS2561.2			1	
WDFY3	0	LGGM	GRCh37	4	85781647	85781647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	26	19	.	.	ENST00000295888.4:c.98C>T	p.Thr33Met	p.T33M	ENST00000295888	NM_014991.4	33	aCg/aTg	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		45	-0.345		HGNC	p.T33M	rs770072304	WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85781647,G,A&fts=all		hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		T/M		A	neutral	506/14247	6.00E-05	getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=1&re=200&var=T33M	tolerated(0.13)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Thr33Met,ENST00000322366,;WDFY3,missense_variant,p.Thr33Met,ENST00000295888,NM_014991.4;WDFY3,missense_variant,p.Thr33Met,ENST00000509172,;WDFY3,downstream_gene_variant,,ENST00000502713,;WDFY3,non_coding_transcript_exon_variant,,ENST00000426414,;WDFY3,non_coding_transcript_exon_variant,,ENST00000504990,;							MODERATE	98/10581	T33M	WDFY3_HUMAN			Transcript		benign(0.03)	.	ENSP00000295888	3.29E-05	CCDS3609.1			1	
OR2T11	0	LGGM	GRCh37	1	248789924	248789924	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	52	19	.	.	ENST00000330803.2:c.506G>T	p.Arg169Leu	p.R169L	ENST00000330803	NM_001001964.1	169	cGa/cTa	0	1	1	UPI000004F23F	0	NA	ENST00000330803		ENSG00000183130	19574		71	2.245		HGNC	p.R169L		OR2T11		SNV							ENST00000330803	protein_coding	getma.org/?cm=var&var=hg19,1,248789924,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF173,Superfamily_domains:SSF81321		R/L		A	medium	568/1072		getma.org/?cm=msa&ty=f&p=O2T11_HUMAN&rb=136&re=280&var=R169L	deleterious(0.03)				YES	OR2T11,missense_variant,p.Arg169Leu,ENST00000330803,NM_001001964.1;							MODERATE	506/951	R169L	O2T11_HUMAN			Transcript		benign(0.202)	.	ENSP00000328934		CCDS31122.1			1	
SPTAN1	0	LGGM	GRCh37	9	131348138	131348138	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	13	19	.	.	ENST00000372739.3:c.2672A>T	p.Gln891Leu	p.Q891L	ENST00000372739	NM_001130438.2	891	cAg/cTg	0	1		UPI000022DA2E	0	getma.org/pdb.php?prot=SPTA2_HUMAN&from=890&to=973&var=Q891L	ENST00000372731		ENSG00000197694	11273		32	2.015		HGNC	p.Q891L		SPTAN1		SNV			1				ENST00000372731	protein_coding	getma.org/?cm=var&var=hg19,9,131348138,A,T&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF250,Superfamily_domains:SSF46966		Q/L		T	medium	2782/7857		getma.org/?cm=msa&ty=f&p=SPTA2_HUMAN&rb=890&re=973&var=Q891L	deleterious(0.02)					SPTAN1,missense_variant,p.Gln891Leu,ENST00000358161,;SPTAN1,missense_variant,p.Gln891Leu,ENST00000372739,NM_001130438.2;SPTAN1,missense_variant,p.Gln891Leu,ENST00000372731,NM_003127.3,NM_001195532.1;SPTAN1,downstream_gene_variant,,ENST00000472211,;							MODERATE	2672/7419	Q891L	SPTN1_HUMAN			Transcript		benign(0.013)	.	ENSP00000361816		CCDS6905.1			1	
KIAA0020	0	LGGM	GRCh37	9	2811561	2811578	+	inframe_deletion	In_Frame_Del	DEL	TGCGGACCTCTGTATCTT	TGCGGACCTCTGTATCTT	-	novel	by Submitter	H060607	H060607N.bam	TGCGGACCTCTGTATCTT	TGCGGACCTCTGTATCTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	52	19	.	.	ENST00000397885.2:c.1418_1435del	p.Lys473_Arg478del	p.K473_R478del	ENST00000397885	NM_014878.4	473	aAAGATACAGAGGTCCGCAga/aga	0	1	1	UPI000013D67E	0		ENST00000397885		ENSG00000080608	29676		71			HGNC	p.473_479del		KIAA0020		deletion							ENST00000397885	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF08144,hmmpanther:PTHR13389,PROSITE_profiles:PS50303		KDTEVRR/R		-		1625-1642/2321				S4R3K8_HUMAN			YES	KIAA0020,inframe_deletion,p.Lys473_Arg478del,ENST00000397885,NM_014878.4;KIAA0020,upstream_gene_variant,,ENST00000382032,;KIAA0020,upstream_gene_variant,,ENST00000490444,;							MODERATE	1418-1435/1947		K0020_HUMAN			Transcript			.	ENSP00000380982		CCDS6448.2			1	
ATP13A3	0	LGGM	GRCh37	3	194167658	194167658	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	40	20	.	.	ENST00000439040.1:c.1495A>G	p.Lys499Glu	p.K499E	ENST00000439040		499	Aag/Gag	0	1		UPI000049DFC3	0	NA	ENST00000256031		ENSG00000133657	24113		60	3.67		HGNC	p.K499E		ATP13A3		SNV							ENST00000256031	protein_coding	getma.org/?cm=var&var=hg19,3,194167658,T,C&fts=all		Pfam_domain:PF12710,Prints_domain:PR00119,PROSITE_patterns:PS00154,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657		K/E		C	high	1897/7322		getma.org/?cm=msa&ty=f&p=AT133_HUMAN&rb=495&re=892&var=K499E	deleterious(0)	C9JAP7_HUMAN,C9J7Z7_HUMAN				ATP13A3,missense_variant,p.Lys499Glu,ENST00000439040,;ATP13A3,missense_variant,p.Lys499Glu,ENST00000256031,NM_024524.3;ATP13A3,downstream_gene_variant,,ENST00000485194,;							MODERATE	1495/3681	K499E	AT133_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000256031		CCDS43187.1			1	
ATP13A3	0	LGGM	GRCh37	3	194167657	194167657	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	38	20	.	.	ENST00000439040.1:c.1496A>T	p.Lys499Met	p.K499M	ENST00000439040		499	aAg/aTg	0	1		UPI000049DFC3	0	NA	ENST00000256031		ENSG00000133657	24113		58	3.67		HGNC	p.K499M		ATP13A3		SNV							ENST00000256031	protein_coding	getma.org/?cm=var&var=hg19,3,194167657,T,A&fts=all		Pfam_domain:PF12710,Prints_domain:PR00119,PROSITE_patterns:PS00154,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657		K/M		A	high	1898/7322		getma.org/?cm=msa&ty=f&p=AT133_HUMAN&rb=495&re=892&var=K499M	deleterious(0)	C9JAP7_HUMAN,C9J7Z7_HUMAN				ATP13A3,missense_variant,p.Lys499Met,ENST00000439040,;ATP13A3,missense_variant,p.Lys499Met,ENST00000256031,NM_024524.3;ATP13A3,downstream_gene_variant,,ENST00000485194,;							MODERATE	1496/3681	K499M	AT133_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000256031		CCDS43187.1			1	
ADAM12	0	LGGM	GRCh37	10	127843852	127843852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	29	20	.	.	ENST00000368679.4:c.283A>T	p.Thr95Ser	p.T95S	ENST00000368679	NM_003474.4	95	Acg/Tcg	0	1	1	UPI000036672C	0	NA	ENST00000368679		ENSG00000148848	190		49	0.74		HGNC	p.T95S		ADAM12		SNV							ENST00000368679	protein_coding	getma.org/?cm=var&var=hg19,10,127843852,T,A&fts=all		hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905,Pfam_domain:PF01562		T/S		A	neutral	593/7938		getma.org/?cm=msa&ty=f&p=ADA12_HUMAN&rb=38&re=167&var=T95S	deleterious(0.04)				YES	ADAM12,missense_variant,p.Thr95Ser,ENST00000368679,NM_003474.4;ADAM12,missense_variant,p.Thr95Ser,ENST00000368676,NM_021641.3;ADAM12,missense_variant,p.Thr95Ser,ENST00000448723,;ADAM12,non_coding_transcript_exon_variant,,ENST00000494661,;							MODERATE	283/2730	T95S	ADA12_HUMAN			Transcript		possibly_damaging(0.517)	.	ENSP00000357668		CCDS7653.1			1	
SGMS1	0	LGGM	GRCh37	10	52103573	52103573	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	40	20	.	.	ENST00000361781.2:c.302A>T	p.Lys101Met	p.K101M	ENST00000361781	NM_147156.3	101	aAg/aTg	0	1	1	UPI000000D9FC	0	NA	ENST00000361781		ENSG00000198964	29799		60	0.345		HGNC	p.K101M		SGMS1		SNV							ENST00000361543	protein_coding	getma.org/?cm=var&var=hg19,10,52103573,T,A&fts=all		hmmpanther:PTHR21290,hmmpanther:PTHR21290:SF28		K/M		A	neutral	1262/3744		getma.org/?cm=msa&ty=f&p=SMS1_HUMAN&rb=80&re=279&var=K107M	tolerated(0.07)	R4GNI5_HUMAN,D3DWC4_HUMAN,E6ZCI7_HUMAN			YES	SGMS1,missense_variant,p.Lys101Met,ENST00000361781,NM_147156.3;SGMS1,missense_variant,p.Lys101Met,ENST00000361543,;SGMS1,intron_variant,,ENST00000429490,;SGMS1,upstream_gene_variant,,ENST00000602565,;SGMS1,upstream_gene_variant,,ENST00000602619,;SGMS1,downstream_gene_variant,,ENST00000492601,;SGMS1,downstream_gene_variant,,ENST00000609445,;							MODERATE	302/1242	K107M				Transcript		benign(0.345)	.	ENSP00000354829		CCDS7240.1			1	
CNTN3	0	LGGM	GRCh37	3	74350661	74350661	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	31	20	.	.	ENST00000263665.6:c.1983T>A	p.Thr661=	p.T661=	ENST00000263665	NM_020872.1	661	acT/acA	0	1	1	UPI00001A7974	0		ENST00000263665		ENSG00000113805	2173		51			HGNC	p.T661T		CNTN3		SNV							ENST00000263665	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,SMART_domains:SM00060,Superfamily_domains:SSF49265		T		T		2011/4948							YES	CNTN3,synonymous_variant,p.=,ENST00000263665,NM_020872.1;							LOW	1983/3087		CNTN3_HUMAN			Transcript			.	ENSP00000263665		CCDS33790.1			1	
HECTD4	0	LGGM	GRCh37	12	112608138	112608138	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	32	20	.	.	ENST00000550722.1:c.11613A>C	p.Gly3871=	p.G3871=	ENST00000550722	NM_001109662.3	3871	ggA/ggC	0	1	1	UPI00020CE513	0		ENST00000550722		ENSG00000173064	26611		52			HGNC	p.G3595G		HECTD4		SNV							ENST00000430131	protein_coding			hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254		G		G		12009/15405				F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,splice_region_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,splice_region_variant,p.=,ENST00000430131,;HECTD4,splice_region_variant,p.=,ENST00000377560,;HECTD4,downstream_gene_variant,,ENST00000548588,;HECTD4,upstream_gene_variant,,ENST00000547085,;HECTD4,upstream_gene_variant,,ENST00000548140,;							LOW	11613/12819					Transcript			.	ENSP00000449784					1	
FSIP2	0	LGGM	GRCh37	2	186661099	186661099	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	51	20	.	.	ENST00000343098.5:c.9503T>A	p.Leu3168His	p.L3168H	ENST00000343098	NM_173651.2	3168	cTt/cAt	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		71	1.75		HGNC	p.L3079H		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186661099,T,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		L/H		A	low	9236/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=483&re=3510&var=L3079H						FSIP2,missense_variant,p.Leu3168His,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Leu3079His,ENST00000424728,;AC008174.3,intron_variant,,ENST00000436557,;AC008174.3,intron_variant,,ENST00000429929,;FSIP2,missense_variant,p.Leu586His,ENST00000415915,;							MODERATE	9236/20724	L3079H	FSIP2_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000401306					1	
WDR7	0	LGGM	GRCh37	18	54362212	54362212	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	32	21	.	.	ENST00000254442.3:c.1140A>T	p.Gln380His	p.Q380H	ENST00000254442	NM_015285.2	380	caA/caT	0	1	1	UPI000013CE33	0	NA	ENST00000254442		ENSG00000091157	13490		53	2.19		HGNC	p.Q380H		WDR7		SNV							ENST00000254442	protein_coding	getma.org/?cm=var&var=hg19,18,54362212,A,T&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10		Q/H		T	medium	1351/9074		getma.org/?cm=msa&ty=f&p=WDR7_HUMAN&rb=296&re=453&var=Q380H	tolerated(0.08)	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN			YES	WDR7,missense_variant,p.Gln380His,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Gln380His,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000589935,;WDR7,non_coding_transcript_exon_variant,,ENST00000585754,;							MODERATE	1140/4473	Q380H	WDR7_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000254442		CCDS11962.1			1	
SVEP1	0	LGGM	GRCh37	9	113245880	113245880	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	40	21	.	.	ENST00000401783.2:c.2024T>A	p.Phe675Tyr	p.F675Y	ENST00000401783	NM_153366.3	675	tTc/tAc	0	1		UPI0000458920	0	NA	ENST00000374469		ENSG00000165124	15985		61	2.28		HGNC	p.F675Y		SVEP1		SNV							ENST00000302728	protein_coding	getma.org/?cm=var&var=hg19,9,113245880,A,T&fts=all		Pfam_domain:PF02494,PROSITE_profiles:PS50825,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43		F/Y		T	medium	2219/12194		getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=643&re=722&var=F675Y	deleterious(0)					SVEP1,missense_variant,p.Phe675Tyr,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Phe652Tyr,ENST00000374469,;SVEP1,missense_variant,p.Phe675Tyr,ENST00000302728,;SVEP1,missense_variant,p.Phe652Tyr,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;							MODERATE	1955/10647	F675Y				Transcript		probably_damaging(0.999)	.	ENSP00000363593					1	
MYH8	0	LGGM	GRCh37	17	10298665	10298665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	29	21	.	.	ENST00000403437.2:c.4747G>T	p.Asp1583Tyr	p.D1583Y	ENST00000403437	NM_002472.2	1583	Gat/Tat	0	1	1	UPI000012FB7D	0	NA	ENST00000403437		ENSG00000133020	7578		50	3.565		HGNC	p.D1583Y		MYH8		SNV			1				ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10298665,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340		D/Y		A	high	4842/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=D1583Y	deleterious(0)				YES	MYH8,missense_variant,p.Asp1583Tyr,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	4747/5814	D1583Y	MYH8_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000384330		CCDS11153.1			1	
PPP1R3A	0	LGGM	GRCh37	7	113518796	113518796	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	21	.	.	ENST00000284601.3:c.2351A>T	p.His784Leu	p.H784L	ENST00000284601	NM_002711.3	784	cAt/cTt	0	1	1	UPI000013DDAA	0	NA	ENST00000284601		ENSG00000154415	9291		56	2.095		HGNC	p.H784L		PPP1R3A		SNV			1				ENST00000284601	protein_coding	getma.org/?cm=var&var=hg19,7,113518796,T,A&fts=all				H/L		A	medium	2420/4384		getma.org/?cm=msa&ty=f&p=PPR3A_HUMAN&rb=241&re=1120&var=H784L	deleterious(0.02)	C9JZB3_HUMAN			YES	PPP1R3A,missense_variant,p.His784Leu,ENST00000284601,NM_002711.3;PPP1R3A,downstream_gene_variant,,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;							MODERATE	2351/3369	H784L	PPR3A_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000284601		CCDS5759.1			1	
ZNF277	0	LGGM	GRCh37	7	111936353	111936353	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	40	21	.	.	ENST00000361822.3:c.452A>T	p.Gln151Leu	p.Q151L	ENST00000361822	NM_021994.2	151	cAg/cTg	0	1	1	UPI00000437E2	0	NA	ENST00000361822		ENSG00000198839	13070		61	2.57		HGNC	p.Q151L		ZNF277		SNV							ENST00000450657	protein_coding	getma.org/?cm=var&var=hg19,7,111936353,A,T&fts=all		hmmpanther:PTHR13267,hmmpanther:PTHR13267:SF3,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		Q/L		T	medium	581/1849		getma.org/?cm=msa&ty=f&p=ZN277_HUMAN&rb=129&re=171&var=Q151L	deleterious(0)	C9J3B6_HUMAN,A4D0S7_HUMAN			YES	ZNF277,missense_variant,p.Gln151Leu,ENST00000361822,NM_021994.2;ZNF277,missense_variant,p.Gln151Leu,ENST00000450657,;ZNF277,intron_variant,,ENST00000425229,;ZNF277,3_prime_UTR_variant,,ENST00000361946,;ZNF277,3_prime_UTR_variant,,ENST00000457808,;							MODERATE	452/1353	Q151L	ZN277_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000354501		CCDS5755.2			1	
HOXB4	0	LGGM	GRCh37	17	46654334	46654334	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	23	21	.	.	ENST00000332503.5:c.506del	p.Tyr169SerfsTer19	p.Y169Sfs*19	ENST00000332503	NM_024015.4	169	tAc/tc	0	1	1	UPI0000062329	0		ENST00000332503		ENSG00000182742	5115		44			HGNC	p.Y169fs		HOXB4		deletion							ENST00000332503	protein_coding			Gene3D:1.10.10.60,Pfam_domain:PF00046,Prints_domain:PR00025,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF161,SMART_domains:SM00389,Superfamily_domains:SSF46689		Y/X		-		2298/3757							YES	HOXB4,frameshift_variant,p.Tyr169SerfsTer19,ENST00000332503,NM_024015.4;HOXB3,intron_variant,,ENST00000498678,;HOXB3,intron_variant,,ENST00000472863,;HOXB3,intron_variant,,ENST00000489475,;HOXB3,intron_variant,,ENST00000460160,;HOXB3,intron_variant,,ENST00000476342,;HOXB3,intron_variant,,ENST00000465120,;HOXB3,upstream_gene_variant,,ENST00000311626,NM_002146.4;HOXB3,upstream_gene_variant,,ENST00000485909,;HOXB3,upstream_gene_variant,,ENST00000490677,;MIR10A,downstream_gene_variant,,ENST00000385043,;HOXB-AS3,intron_variant,,ENST00000465846,;MIR10A,downstream_gene_variant,,ENST00000548801,;HOXB3,intron_variant,,ENST00000552000,;HOXB3,upstream_gene_variant,,ENST00000464266,;							HIGH	506/756		HXB4_HUMAN			Transcript			.	ENSP00000328928		CCDS11529.1			1	
CARD11	0	LGGM	GRCh37	7	2979463	2979463	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	32	21	.	.	ENST00000396946.4:c.784A>T	p.Lys262Ter	p.K262*	ENST00000396946	NM_032415.4	262	Aag/Tag	0	1	1	UPI00003FED38	0	NA	ENST00000396946		ENSG00000198286	16393		53	0		HGNC	p.K262X		CARD11		SNV			1				ENST00000396946	protein_coding	getma.org/?cm=var&var=hg19,7,2979463,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10		K/*		A	NA	1188/4366		NA		Q8TES3_HUMAN,E2QRC0_HUMAN			YES	CARD11,stop_gained,p.Lys262Ter,ENST00000396946,NM_032415.4;AC004906.3,upstream_gene_variant,,ENST00000423194,;							HIGH	784/3465	K262*	CAR11_HUMAN			Transcript			.	ENSP00000380150		CCDS5336.2			1	
SLC35F5	0	LGGM	GRCh37	2	114508015	114508015	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	26	22	.	.	ENST00000245680.2:c.404A>T	p.Lys135Met	p.K135M	ENST00000245680	NM_025181.2	135	aAg/aTg	0	1	1	UPI000004C648	0	NA	ENST00000245680		ENSG00000115084	23617		48	-0.695		HGNC	p.K135M		SLC35F5		SNV							ENST00000245680	protein_coding	getma.org/?cm=var&var=hg19,2,114508015,T,A&fts=all		hmmpanther:PTHR23051,hmmpanther:PTHR23051:SF0		K/M		A	neutral	818/4412		getma.org/?cm=msa&ty=f&p=S35F5_HUMAN&rb=1&re=200&var=K135M	tolerated(0.35)				YES	SLC35F5,missense_variant,p.Lys135Met,ENST00000245680,NM_025181.2;SLC35F5,missense_variant,p.Lys129Met,ENST00000409342,;SLC35F5,missense_variant,p.Lys129Met,ENST00000409106,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000498768,;							MODERATE	404/1572	K135M	S35F5_HUMAN			Transcript		benign(0.007)	.	ENSP00000245680		CCDS2119.1			1	
ADCK2	0	LGGM	GRCh37	7	140379057	140379057	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	39	22	.	.	ENST00000072869.4:c.1183A>T	p.Arg395Ter	p.R395*	ENST00000072869	NM_052853.3	395	Aga/Tga	0	1	1	UPI000003C962	0	NA	ENST00000072869		ENSG00000133597	19039		61	0		HGNC	p.R395X		ADCK2		SNV							ENST00000476491	protein_coding	getma.org/?cm=var&var=hg19,7,140379057,A,T&fts=all		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF6,Superfamily_domains:SSF56112		R/*		T	NA	1361/2377		NA		A4D1T6_HUMAN			YES	ADCK2,stop_gained,p.Arg395Ter,ENST00000072869,NM_052853.3;ADCK2,stop_gained,p.Arg395Ter,ENST00000476491,;ADCK2,stop_gained,p.Arg233Ter,ENST00000483369,;ADCK2,stop_gained,p.Arg35Ter,ENST00000473512,;ADCK2,non_coding_transcript_exon_variant,,ENST00000498423,;							HIGH	1183/1881	R395*	ADCK2_HUMAN			Transcript			.	ENSP00000072869		CCDS5861.1			1	
MYH8	0	LGGM	GRCh37	17	10298666	10298666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	30	22	.	.	ENST00000403437.2:c.4746G>T	p.Lys1582Asn	p.K1582N	ENST00000403437	NM_002472.2	1582	aaG/aaT	0	1	1	UPI000012FB7D	0	NA	ENST00000403437		ENSG00000133020	7578		52	3.425		HGNC	p.K1582N		MYH8		SNV			1				ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10298666,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340		K/N		A	medium	4841/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=K1582N	deleterious(0)				YES	MYH8,missense_variant,p.Lys1582Asn,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	4746/5814	K1582N	MYH8_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000384330		CCDS11153.1			1	
ARHGAP42	0	LGGM	GRCh37	11	100819228	100819228	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	42	22	.	.	ENST00000298815.8:c.1084A>T	p.Arg362Trp	p.R362W	ENST00000298815	NM_152432.2	362	Agg/Tgg	0	1	1	UPI00005778C9	0	NA	ENST00000298815		ENSG00000165895	26545		64	2.935		HGNC	p.R328W		ARHGAP42		SNV							ENST00000524892	protein_coding	getma.org/?cm=var&var=hg19,11,100819228,A,T&fts=all		Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/W		T	medium	1087/4752		getma.org/?cm=msa&ty=f&p=RHG42_HUMAN&rb=265&re=374&var=R362W	deleterious(0)	H0YDU1_HUMAN			YES	ARHGAP42,missense_variant,p.Arg328Trp,ENST00000524892,;ARHGAP42,missense_variant,p.Arg362Trp,ENST00000298815,NM_152432.2;ARHGAP42,missense_variant,p.Arg218Trp,ENST00000531183,;							MODERATE	1084/2625	R362W	RHG42_HUMAN			Transcript		possibly_damaging(0.705)	.	ENSP00000298815					1	
FCRL5	0	LGGM	GRCh37	1	157494089	157494089	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	47	23	.	.	ENST00000361835.3:c.2219T>A	p.Met740Lys	p.M740K	ENST00000361835	NM_001195388.1	740	aTg/aAg	0	1	1	UPI0000458907	0	NA	ENST00000361835		ENSG00000143297	18508		70	1.39		HGNC	p.M740K		FCRL5		SNV							ENST00000361835	protein_coding	getma.org/?cm=var&var=hg19,1,157494089,A,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,SMART_domains:SM00409,Superfamily_domains:SSF48726		M/K		T	low	2377/5390		getma.org/?cm=msa&ty=f&p=FCRL5_HUMAN&rb=659&re=744&var=M740K	deleterious(0.03)				YES	FCRL5,missense_variant,p.Met740Lys,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,missense_variant,p.Met740Lys,ENST00000356953,;FCRL5,missense_variant,p.Met740Lys,ENST00000368190,;FCRL5,missense_variant,p.Met655Lys,ENST00000368191,;FCRL5,non_coding_transcript_exon_variant,,ENST00000497286,;FCRL5,upstream_gene_variant,,ENST00000461387,;							MODERATE	2219/2934	M740K	FCRL5_HUMAN			Transcript		benign(0.039)	.	ENSP00000354691		CCDS1165.1			1	
KIAA0195	0	LGGM	GRCh37	17	73482456	73482456	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	23	.	.	ENST00000314256.7:c.358A>T	p.Lys120Ter	p.K120*	ENST00000314256	NM_014738.4	120	Aag/Tag	0	1	1	UPI0000139439	0	NA	ENST00000314256		ENSG00000177728	28983		58	0		HGNC	p.K130X		KIAA0195		SNV							ENST00000375248	protein_coding	getma.org/?cm=var&var=hg19,17,73482456,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13219:SF6,hmmpanther:PTHR13219,Superfamily_domains:0049473		K/*		T	NA	752/5213		NA		J3QS17_HUMAN,J3QRT3_HUMAN,J3QLM7_HUMAN,J3KT63_HUMAN,J3KRU7_HUMAN			YES	KIAA0195,stop_gained,p.Lys120Ter,ENST00000314256,NM_014738.4;KIAA0195,stop_gained,p.Lys130Ter,ENST00000375248,;KIAA0195,stop_gained,p.Lys120Ter,ENST00000577380,;KIAA0195,stop_gained,p.Lys120Ter,ENST00000581519,;KIAA0195,intron_variant,,ENST00000579208,;KIAA0195,intron_variant,,ENST00000581252,;KIAA0195,upstream_gene_variant,,ENST00000580918,;KIAA0195,downstream_gene_variant,,ENST00000582186,;KIAA0195,downstream_gene_variant,,ENST00000582455,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000583795,;KIAA0195,intron_variant,,ENST00000580416,;KIAA0195,stop_gained,p.Lys130Ter,ENST00000579707,;KIAA0195,stop_gained,p.Lys16Ter,ENST00000580441,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000585105,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000581085,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000584383,;KIAA0195,upstream_gene_variant,,ENST00000579241,;KIAA0195,downstream_gene_variant,,ENST00000585277,;KIAA0195,upstream_gene_variant,,ENST00000580849,;							HIGH	358/4071	K120*	K0195_HUMAN			Transcript			.	ENSP00000313885		CCDS32732.1			1	
SULF1	0	LGGM	GRCh37	8	70536277	70536277	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	29	23	.	.	ENST00000260128.4:c.1695G>C	p.Leu565Phe	p.L565F	ENST00000260128	NM_015170.2	565	ttG/ttC	0	1	1	UPI000003FD82	0	NA	ENST00000260128		ENSG00000137573	20391		52	1.95		HGNC	p.L565F	rs751119181	SULF1	6.07E-05	SNV							ENST00000458141	protein_coding	getma.org/?cm=var&var=hg19,8,70536277,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Pfam_domain:PF12548,PIRSF_domain:PIRSF036665		L/F		C	medium	2412/5710		getma.org/?cm=msa&ty=f&p=SULF1_HUMAN&rb=533&re=680&var=L565F	tolerated(0.65)	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN			YES	SULF1,missense_variant,p.Leu565Phe,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Leu565Phe,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Leu565Phe,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Leu565Phe,ENST00000419716,NM_001128206.1;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,upstream_gene_variant,,ENST00000524731,;SULF1,upstream_gene_variant,,ENST00000531512,;							MODERATE	1695/2616	L565F	SULF1_HUMAN			Transcript		benign(0.014)	.	ENSP00000260128	8.24E-06	CCDS6204.1			1	
FAM129A	0	LGGM	GRCh37	1	184777332	184777332	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	55	23	.	.	ENST00000367511.3:c.1211T>A	p.Val404Glu	p.V404E	ENST00000367511	NM_052966.3	404	gTg/gAg	0	1	1	UPI00000375B3	0	NA	ENST00000367511		ENSG00000135842	16784		78	2.125		HGNC	p.V404E		FAM129A		SNV							ENST00000367511	protein_coding	getma.org/?cm=var&var=hg19,1,184777332,A,T&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF3		V/E		T	medium	1405/6928		getma.org/?cm=msa&ty=f&p=NIBAN_HUMAN&rb=1&re=594&var=V404E	deleterious(0.01)				YES	FAM129A,missense_variant,p.Val404Glu,ENST00000367511,NM_052966.3;FAM129A,upstream_gene_variant,,ENST00000417056,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;							MODERATE	1211/2787	V404E	NIBAN_HUMAN			Transcript		possibly_damaging(0.522)	.	ENSP00000356481		CCDS1364.1			1	
OR6C6	0	LGGM	GRCh37	12	55688201	55688201	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	32	24	.	.	ENST00000358433.2:c.816A>T	p.Val272=	p.V272=	ENST00000358433	NM_001005493.1	272	gtA/gtT	0	1	1	UPI000015FCD4	0		ENST00000358433		ENSG00000188324	31293		56			HGNC	p.V272V		OR6C6		SNV							ENST00000358433	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF40,Superfamily_domains:SSF81321		V		A		816/945							YES	OR6C6,synonymous_variant,p.=,ENST00000358433,NM_001005493.1;OR6C72P,intron_variant,,ENST00000379669,;							LOW	816/945		OR6C6_HUMAN			Transcript			.	ENSP00000351211		CCDS31817.1			1	
GIMAP4	0	LGGM	GRCh37	7	150270145	150270145	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	31	24	.	.	ENST00000255945.2:c.987T>A	p.Asp329Glu	p.D329E	ENST00000255945	NM_018326.2	329	gaT/gaA	0	1	1	UPI0000073CB0	0	NA	ENST00000255945		ENSG00000133574	21872		55	1.59		HGNC	p.D343E		GIMAP4		SNV							ENST00000461940	protein_coding	getma.org/?cm=var&var=hg19,7,150270145,T,A&fts=all		hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF38		D/E		A	low	1162/2058		getma.org/?cm=msa&ty=f&p=GIMA4_HUMAN&rb=290&re=329&var=D329E	tolerated(0.06)				YES	GIMAP4,missense_variant,p.Asp329Glu,ENST00000255945,NM_018326.2;GIMAP4,missense_variant,p.Asp343Glu,ENST00000461940,;GIMAP4,downstream_gene_variant,,ENST00000479232,;GIMAP4,downstream_gene_variant,,ENST00000494750,;GIMAP4,downstream_gene_variant,,ENST00000478135,;							MODERATE	987/990	D329E	GIMA4_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000255945		CCDS5904.1			1	
MAGED1	0	LGGM	GRCh37	X	51640352	51640352	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	10	24	.	.	ENST00000375695.2:c.1639C>T	p.Pro547Ser	p.P547S	ENST00000375695	NM_001005333.1	547	Ccc/Tcc	0	1		UPI000006CD3E	0	getma.org/pdb.php?prot=MAGD1_HUMAN&from=478&to=647&var=P491S	ENST00000326587		ENSG00000179222	6813		34	2.185		HGNC	p.P491S		MAGED1		SNV							ENST00000375722	protein_coding	getma.org/?cm=var&var=hg19,X,51640352,C,T&fts=all		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF28		P/S		T	medium	1661/2747		getma.org/?cm=msa&ty=f&p=MAGD1_HUMAN&rb=478&re=647&var=P491S	deleterious_low_confidence(0.01)					MAGED1,missense_variant,p.Pro547Ser,ENST00000375695,NM_001005333.1;MAGED1,missense_variant,p.Pro491Ser,ENST00000375722,;MAGED1,missense_variant,p.Pro491Ser,ENST00000326587,NM_006986.3;MAGED1,missense_variant,p.Pro491Ser,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,;							MODERATE	1471/2337	P491S	MAGD1_HUMAN			Transcript		unknown(0)	.	ENSP00000325333		CCDS14337.1			1	
NLRP10	0	LGGM	GRCh37	11	7984806	7984806	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	28	24	.	.	ENST00000328600.2:c.237G>A	p.Lys79=	p.K79=	ENST00000328600	NM_176821.3	79	aaG/aaA	0	1	1	UPI0000167F6C	0		ENST00000328600		ENSG00000182261	21464	8.64E-05	52			HGNC	p.K79K	rs770255630	NLRP10	0.000909	SNV							ENST00000328600	protein_coding			Gene3D:1.10.533.10,Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF103,Superfamily_domains:SSF47986		K		T		399/2350				E9PPY0_HUMAN			YES	NLRP10,synonymous_variant,p.=,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;							LOW	237/1968		NAL10_HUMAN			Transcript			common_variant	ENSP00000327763	0.00014	CCDS7784.1	0.0011		1	
PLEKHA5	0	LGGM	GRCh37	12	19418768	19418768	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	43	25	.	.	ENST00000429027.2:c.695G>A	p.Arg232His	p.R232H	ENST00000429027	NM_001256470.1	232	cGc/cAc	0	1		UPI0000040B78	0	getma.org/pdb.php?prot=PKHA5_HUMAN&from=170&to=267&var=R232H	ENST00000299275		ENSG00000052126	30036		68	2.04		HGNC	p.R124H	COSM271957,COSM271958	PLEKHA5		SNV						1,1	ENST00000543806	protein_coding	getma.org/?cm=var&var=hg19,12,19418768,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/H		A	medium	701/4238		getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=170&re=267&var=R232H	deleterious(0.01)	F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN				PLEKHA5,missense_variant,p.Arg232His,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Arg232His,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Arg232His,ENST00000317589,;PLEKHA5,missense_variant,p.Arg232His,ENST00000355397,;PLEKHA5,missense_variant,p.Arg124His,ENST00000424268,;PLEKHA5,missense_variant,p.Arg232His,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Arg232His,ENST00000359180,;PLEKHA5,missense_variant,p.Arg124His,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Arg124His,ENST00000536974,;PLEKHA5,missense_variant,p.Arg232His,ENST00000309364,;PLEKHA5,5_prime_UTR_variant,,ENST00000539256,;PLEKHA5,downstream_gene_variant,,ENST00000538305,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;					1,1		MODERATE	695/3351	R232H	PKHA5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000299275		CCDS8682.1			1	
CEP78	0	LGGM	GRCh37	9	80880438	80880438	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	62	26	.	.	ENST00000376597.4:c.1779A>T	p.Leu593=	p.L593=	ENST00000376597	NM_001098802.1	593	ctA/ctT	0	1		UPI00004A2D96	0		ENST00000424347		ENSG00000148019	25740		88			HGNC	p.L592L		CEP78		SNV							ENST00000424347	protein_coding			hmmpanther:PTHR24110		L		T		2065/11198								CEP78,synonymous_variant,p.=,ENST00000424347,;CEP78,synonymous_variant,p.=,ENST00000415759,NM_032171.1;CEP78,synonymous_variant,p.=,ENST00000376597,NM_001098802.1;CEP78,synonymous_variant,p.=,ENST00000277082,;CEP78,synonymous_variant,p.=,ENST00000376598,;CEP78,intron_variant,,ENST00000476652,;CEP78,downstream_gene_variant,,ENST00000487108,;CEP78,non_coding_transcript_exon_variant,,ENST00000447629,;CEP78,downstream_gene_variant,,ENST00000498582,;CEP78,downstream_gene_variant,,ENST00000459817,;							LOW	1776/2070		CEP78_HUMAN			Transcript			.	ENSP00000411284					1	
MYCBP2	0	LGGM	GRCh37	13	77672901	77672901	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	44	26	.	.	ENST00000544440.2:c.8274G>C	p.Gln2758His	p.Q2758H	ENST00000544440		2758	caG/caC	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		70	0.805		HGNC	p.Q2758H		MYCBP2		SNV							ENST00000544440	protein_coding	getma.org/?cm=var&var=hg19,13,77672901,C,G&fts=all		hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		Q/H		G	low	8367/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=2647&re=2846&var=Q2758H						MYCBP2,missense_variant,p.Gln2796His,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Gln2758His,ENST00000357337,;MYCBP2,missense_variant,p.Gln2758His,ENST00000544440,;MYCBP2,missense_variant,p.Gln281His,ENST00000360084,;MYCBP2-AS1,downstream_gene_variant,,ENST00000593933,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000482517,;MYCBP2,downstream_gene_variant,,ENST00000498073,;MYCBP2,upstream_gene_variant,,ENST00000485061,;MYCBP2,downstream_gene_variant,,ENST00000462987,;							MODERATE	8274/13923	Q2758H	MYCB2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000349892					1	
OR11H6	0	LGGM	GRCh37	14	20692289	20692289	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	51	26	.	.	ENST00000315519.2:c.421T>A	p.Tyr141Asn	p.Y141N	ENST00000315519	NM_001004480.1	141	Tac/Aac	0	1	1	UPI000004B1F1	0	getma.org/pdb.php?prot=O11H6_HUMAN&from=1&to=156&var=Y141N	ENST00000315519		ENSG00000176219	15349		77	4.075		HGNC	p.Y141N		OR11H6		SNV							ENST00000315519	protein_coding	getma.org/?cm=var&var=hg19,14,20692289,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90,Superfamily_domains:SSF81321		Y/N		A	high	499/1174		getma.org/?cm=msa&ty=f&p=O11H6_HUMAN&rb=1&re=156&var=Y141N	deleterious(0)				YES	OR11H6,missense_variant,p.Tyr141Asn,ENST00000315519,NM_001004480.1;							MODERATE	421/993	Y141N	O11H6_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000319071		CCDS32033.1			1	
SIGLEC8	0	LGGM	GRCh37	19	51961424	51961424	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	76	26	.	.	ENST00000321424.3:c.218C>A	p.Pro73Gln	p.P73Q	ENST00000321424	NM_014442.2	73	cCa/cAa	0	1	1	UPI000013598B	0	getma.org/pdb.php?prot=SIGL8_HUMAN&from=27&to=152&var=P73Q	ENST00000321424		ENSG00000105366	10877		102	1.21		HGNC	p.P73Q		SIGLEC8		SNV							ENST00000340550	protein_coding	getma.org/?cm=var&var=hg19,19,51961424,G,T&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/Q		T	low	285/2949		getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=27&re=152&var=P73Q	tolerated(0.51)				YES	SIGLEC8,missense_variant,p.Pro73Gln,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Pro73Gln,ENST00000430817,;SIGLEC8,missense_variant,p.Pro73Gln,ENST00000340550,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;							MODERATE	218/1500	P73Q	SIGL8_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000321077		CCDS33086.1			1	
PTH2R	0	LGGM	GRCh37	2	209324643	209324643	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	43	26	.	.	ENST00000272847.2:c.938A>C	p.Asp313Ala	p.D313A	ENST00000272847	NM_005048.3	313	gAc/gCc	0	1	1	UPI000005041E	0	NA	ENST00000272847		ENSG00000144407	9609		69	0.305		HGNC	p.D313A		PTH2R		SNV							ENST00000272847	protein_coding	getma.org/?cm=var&var=hg19,2,209324643,A,C&fts=all		Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50261		D/A		C	neutral	1151/2713		getma.org/?cm=msa&ty=f&p=PTH2R_HUMAN&rb=141&re=409&var=D313A	deleterious(0.02)	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN			YES	PTH2R,missense_variant,p.Asp313Ala,ENST00000272847,NM_005048.3;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;							MODERATE	938/1653	D313A	PTH2R_HUMAN			Transcript		benign(0.024)	.	ENSP00000272847		CCDS2383.1			1	
ZNF726	0	LGGM	GRCh37	19	24116552	24116552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	56	26	.	.	ENST00000594466.1:c.1634C>A	p.Thr545Asn	p.T545N	ENST00000594466	NM_001244038.1	545	aCt/aAt	0	1	1	UPI0002255F7F	0		ENST00000594466		ENSG00000213967	32462		82			HGNC	p.T545N		ZNF726		SNV							ENST00000594466	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF153,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/N		A		1739/2473			deleterious(0)	M0R0X8_HUMAN			YES	ZNF726,missense_variant,p.Thr545Asn,ENST00000594466,NM_001244038.1;ZNF726,missense_variant,p.Thr545Asn,ENST00000322487,;ZNF726,intron_variant,,ENST00000575986,;ZNF726,intron_variant,,ENST00000334589,;CTB-92J24.3,intron_variant,,ENST00000596326,;CTB-92J24.2,downstream_gene_variant,,ENST00000594230,;ZNF92P3,upstream_gene_variant,,ENST00000596594,;							MODERATE	1634/1851					Transcript		benign(0.092)	.	ENSP00000471516		CCDS59372.1			1	
OR5R1	0	LGGM	GRCh37	11	56185590	56185590	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	53	26	.	.	ENST00000312253.1:c.119T>A	p.Leu40Gln	p.L40Q	ENST00000312253	NM_001004744.1	40	cTg/cAg	0	1	1	UPI000004B225	0	getma.org/pdb.php?prot=OR5R1_HUMAN&from=1&to=138&var=L40Q	ENST00000312253		ENSG00000174942	14841		79	3.56		HGNC	p.L40Q		OR5R1		SNV							ENST00000312253	protein_coding	getma.org/?cm=var&var=hg19,11,56185590,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/Q		T	high	119/975		getma.org/?cm=msa&ty=f&p=OR5R1_HUMAN&rb=1&re=138&var=L40Q	deleterious(0)				YES	OR5R1,missense_variant,p.Leu40Gln,ENST00000312253,NM_001004744.1;OR5AL1,downstream_gene_variant,,ENST00000440231,;OR5AL1,downstream_gene_variant,,ENST00000327258,;							MODERATE	119/975	L40Q	OR5R1_HUMAN			Transcript		possibly_damaging(0.746)	.	ENSP00000308595		CCDS31530.1			1	
LY75	0	LGGM	GRCh37	2	160708810	160708810	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	42	27	.	.	ENST00000504764.1:c.2785A>T	p.Ile929Phe	p.I929F	ENST00000504764	NM_001198759.1	929	Atc/Ttc	0	1		UPI00001AE885	0	NA	ENST00000263636		ENSG00000054219	6729		69	2.045		HGNC	p.I929F		LY75		SNV							ENST00000553424	protein_coding	getma.org/?cm=var&var=hg19,2,160708810,T,A&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00034,Superfamily_domains:SSF56436		I/F		A	medium	2813/6886		getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=818&re=931&var=I929F	deleterious(0)					LY75,missense_variant,p.Ile929Phe,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Ile929Phe,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.Ile929Phe,ENST00000554112,;LY75-CD302,missense_variant,p.Ile929Phe,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.Ile929Phe,ENST00000553424,;							MODERATE	2785/5169	I929F	LY75_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000263636		CCDS2211.1			1	
DNAH9	0	LGGM	GRCh37	17	11835483	11835483	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	31	27	.	.	ENST00000262442.4:c.12258T>A	p.Ser4086=	p.S4086=	ENST00000262442	NM_001372.3	4086	tcT/tcA	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		58			HGNC	p.S4010S		DNAH9		SNV							ENST00000454412	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028		S		A		12326/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;DNAH9,synonymous_variant,p.=,ENST00000608377,NM_004662.2;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;							LOW	12258/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
TENM3	0	LGGM	GRCh37	4	183602966	183602966	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	37	28	.	.	ENST00000511685.1:c.1835-1G>T		p.X612_splice	ENST00000511685				0	1	1	UPI00006C0820	0		ENST00000511685		ENSG00000218336	29944		65			HGNC	-		TENM3		SNV			1				ENST00000511685	protein_coding							T		-/10896				G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,splice_acceptor_variant,,ENST00000511685,;TENM3,splice_acceptor_variant,,ENST00000406950,NM_001080477.1;TENM3,splice_acceptor_variant,,ENST00000502950,;TENM3,splice_acceptor_variant,,ENST00000507737,;							HIGH	1835/8100		TEN3_HUMAN			Transcript			.	ENSP00000424226		CCDS47165.1			1	
PDE2A	0	LGGM	GRCh37	11	72302371	72302371	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	40	28	.	.	ENST00000334456.5:c.519G>A	p.Glu173=	p.E173=	ENST00000334456	NM_002599.4	173	gaG/gaA	0	1	1	UPI000003B340	0		ENST00000334456		ENSG00000186642	8777		68			HGNC	p.E58E		PDE2A		SNV							ENST00000418754	protein_coding			hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF102,Superfamily_domains:SSF55781		E		T		765/4315				F5GXX2_HUMAN,C9JPD5_HUMAN			YES	PDE2A,synonymous_variant,p.=,ENST00000334456,NM_002599.4;PDE2A,synonymous_variant,p.=,ENST00000444035,;PDE2A,synonymous_variant,p.=,ENST00000544570,NM_001243784.1,NM_001143839.3;PDE2A,synonymous_variant,p.=,ENST00000540345,NM_001146209.2;PDE2A,synonymous_variant,p.=,ENST00000418754,;PDE2A,intron_variant,,ENST00000376450,;PDE2A,upstream_gene_variant,,ENST00000475807,;PDE2A,downstream_gene_variant,,ENST00000538749,;PDE2A,upstream_gene_variant,,ENST00000538299,;RP11-169D4.2,downstream_gene_variant,,ENST00000545254,;PDE2A,3_prime_UTR_variant,,ENST00000539367,;PDE2A,3_prime_UTR_variant,,ENST00000536308,;PDE2A,3_prime_UTR_variant,,ENST00000541998,;PDE2A,3_prime_UTR_variant,,ENST00000543750,;PDE2A,3_prime_UTR_variant,,ENST00000543575,;PDE2A,non_coding_transcript_exon_variant,,ENST00000490749,;							LOW	519/2826		PDE2A_HUMAN			Transcript			.	ENSP00000334910		CCDS8216.1			1	
FBN1	0	LGGM	GRCh37	15	48788401	48788401	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	32	28	.	.	ENST00000316623.5:c.2315A>G	p.Asn772Ser	p.N772S	ENST00000316623	NM_000138.4	772	aAc/aGc	0	1	1	UPI0000163B0B	0	getma.org/pdb.php?prot=FBN1_HUMAN&from=765&to=805&var=N772S	ENST00000316623		ENSG00000166147	3603		60	0.45		HGNC	p.N772S		FBN1		SNV			1				ENST00000316623	protein_coding	getma.org/?cm=var&var=hg19,15,48788401,T,C&fts=all		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:SSF57184		N/S		C	neutral	2771/11756		getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=765&re=805&var=N772S		Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,missense_variant,p.Asn772Ser,ENST00000316623,NM_000138.4;FBN1,intron_variant,,ENST00000537463,;							MODERATE	2315/8616	N772S	FBN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000325527		CCDS32232.1			1	
DHX57	0	LGGM	GRCh37	2	39065008	39065008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	49	28	.	.	ENST00000295373.6:c.2507A>T	p.Glu836Val	p.E836V	ENST00000295373	NM_198963.1	836	gAg/gTg	0	1		UPI0000231C8A	0	NA	ENST00000457308		ENSG00000163214	20086		77	1.095		HGNC	p.E836V		DHX57		SNV							ENST00000295373	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,39065008,T,A&fts=all						A	low	2436/4109		getma.org/?cm=msa&ty=f&p=DHX57_HUMAN&rb=830&re=1010&var=E836V		F8WAZ3_HUMAN,C9J207_HUMAN				DHX57,missense_variant,p.Glu836Val,ENST00000295373,NM_198963.1;DHX57,missense_variant,p.Glu160Val,ENST00000452978,;DHX57,3_prime_UTR_variant,,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;							MODIFIER	-/1419	E836V				Transcript			.	ENSP00000405111					1	
PLXNC1	0	LGGM	GRCh37	12	94575225	94575225	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	40	28	.	.	ENST00000258526.4:c.1207A>T	p.Ile403Phe	p.I403F	ENST00000258526	NM_005761.2	403	Att/Ttt	0	1	1	UPI0000038AF4	0	getma.org/pdb.php?prot=PLXC1_HUMAN&from=35&to=452&var=I403F	ENST00000258526		ENSG00000136040	9106		68	1.59		HGNC	p.I19F		PLXNC1		SNV							ENST00000551850	protein_coding	getma.org/?cm=var&var=hg19,12,94575225,A,T&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		I/F		T	low	1456/7346		getma.org/?cm=msa&ty=f&p=PLXC1_HUMAN&rb=35&re=452&var=I403F	deleterious(0.01)	F8VUW4_HUMAN,F5H3A2_HUMAN			YES	PLXNC1,missense_variant,p.Ile403Phe,ENST00000258526,NM_005761.2;PLXNC1,missense_variant,p.Ile19Phe,ENST00000551850,;RP11-74K11.2,intron_variant,,ENST00000550759,;PLXNC1,non_coding_transcript_exon_variant,,ENST00000546733,;							MODERATE	1207/4707	I403F	PLXC1_HUMAN			Transcript		benign(0.122)	.	ENSP00000258526		CCDS9049.1			1	
TTN	0	LGGM	GRCh37	2	179585238	179585238	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	51	29	.	.	ENST00000589042.1:c.23251A>T	p.Thr7751Ser	p.T7751S	ENST00000589042	NM_001267550.1	7751	Act/Tct	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=7385&to=7474&var=T7434S	ENST00000591111		ENSG00000155657	12403		80	0.16		HGNC	p.T6507S		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179585238,T,A&fts=all		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		T/S		A	neutral	22525/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=7385&re=7474&var=T7434S		C9JQJ2_HUMAN				TTN,missense_variant,p.Thr7751Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr7434Ser,ENST00000591111,;TTN,missense_variant,p.Thr6507Ser,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,;							MODERATE	22300/103053	T7434S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
MAP2	0	LGGM	GRCh37	2	210559786	210559786	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	35	29	.	.	ENST00000360351.4:c.2892A>T	p.Leu964=	p.L964=	ENST00000360351	NM_002374.3	964	ctA/ctT	0	1	1	UPI000013D119	0		ENST00000360351		ENSG00000078018	6839		64			HGNC	p.L964L		MAP2		SNV							ENST00000360351	protein_coding			hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377		L		T		3398/9711				A8MZ31_HUMAN			YES	MAP2,synonymous_variant,p.=,ENST00000360351,NM_002374.3;MAP2,synonymous_variant,p.=,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;							LOW	2892/5484		MTAP2_HUMAN			Transcript			.	ENSP00000353508		CCDS2384.1			1	
AXIN1	0	LGGM	GRCh37	16	347192	347192	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	17	29	.	.	ENST00000262320.3:c.1819A>T	p.Lys607Ter	p.K607*	ENST00000262320	NM_003502.3	607	Aag/Tag	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		46	0		HGNC	p.K607X		AXIN1		SNV			1				ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,347192,T,A&fts=all				K/*		A	NA	2191/3643		NA					YES	AXIN1,stop_gained,p.Lys607Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Lys607Ter,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;							HIGH	1819/2589	K607*	AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
OTOGL	0	LGGM	GRCh37	12	80645519	80645519	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	51	30	.	.	ENST00000458043.2:c.1072A>T	p.Arg358Ter	p.R358*	ENST00000458043	NM_173591.3	358	Aga/Tga	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901		81	0		HGNC	p.R358X		OTOGL		SNV			1				ENST00000547103	protein_coding	getma.org/?cm=var&var=hg19,12,80645519,A,T&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832		R/*		T	NA	1078/8032		NA		E2QRK2_HUMAN				OTOGL,stop_gained,p.Arg358Ter,ENST00000458043,NM_173591.3;OTOGL,stop_gained,p.Arg358Ter,ENST00000547103,;							HIGH	1072/6999	R358*	OTOGL_HUMAN			Transcript			.	ENSP00000447211					1	
PPFIA1	0	LGGM	GRCh37	11	70185322	70185322	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	37	30	.	.	ENST00000253925.7:c.1617A>T	p.Ala539=	p.A539=	ENST00000253925	NM_003626.3	539	gcA/gcT	0	1	1	UPI0000072426	0		ENST00000253925		ENSG00000131626	9245		67			HGNC	p.Q533L		PPFIA1		SNV							ENST00000532504	protein_coding			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15		A		T		1832/5234				E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN			YES	PPFIA1,synonymous_variant,p.=,ENST00000253925,NM_003626.3;PPFIA1,synonymous_variant,p.=,ENST00000389547,NM_177423.2;PPFIA1,synonymous_variant,p.=,ENST00000530798,;PPFIA1,upstream_gene_variant,,ENST00000528750,;AP000487.6,intron_variant,,ENST00000528607,;PPFIA1,downstream_gene_variant,,ENST00000532443,;PPFIA1,upstream_gene_variant,,ENST00000526074,;PPFIA1,upstream_gene_variant,,ENST00000528284,;PPFIA1,downstream_gene_variant,,ENST00000530932,;PPFIA1,missense_variant,p.Gln533Leu,ENST00000532504,;PPFIA1,missense_variant,p.Gln47Leu,ENST00000526369,;PPFIA1,synonymous_variant,p.=,ENST00000526262,;PPFIA1,upstream_gene_variant,,ENST00000530294,;PPFIA1,upstream_gene_variant,,ENST00000526347,;							LOW	1617/3609		LIPA1_HUMAN			Transcript			.	ENSP00000253925		CCDS31627.1			1	
AMICA1	0	LGGM	GRCh37	11	118067461	118067461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	43	32	.	.	ENST00000356289.5:c.1081T>C	p.Tyr361His	p.Y361H	ENST00000356289	NM_001098526.1	361	Tac/Cac	0	1	1	UPI000000D82D	0	NA	ENST00000356289		ENSG00000160593	19084		75	1.04		HGNC	p.Y361H		AMICA1		SNV							ENST00000356289	protein_coding	getma.org/?cm=var&var=hg19,11,118067461,A,G&fts=all		hmmpanther:PTHR13869,hmmpanther:PTHR13869:SF22		Y/H		G	low	1255/1944		getma.org/?cm=msa&ty=f&p=JAML1_HUMAN&rb=259&re=392&var=Y361H	deleterious(0)	Q496M1_HUMAN,E9PNS8_HUMAN,E9PJJ4_HUMAN			YES	AMICA1,missense_variant,p.Tyr351His,ENST00000292067,NM_153206.2;AMICA1,missense_variant,p.Tyr361His,ENST00000356289,NM_001098526.1;AMICA1,missense_variant,p.Tyr350His,ENST00000533261,;AMICA1,missense_variant,p.Tyr322His,ENST00000526620,NM_001286571.1,NM_001286570.1;AMICA1,3_prime_UTR_variant,,ENST00000526595,;AMICA1,non_coding_transcript_exon_variant,,ENST00000534294,;AMICA1,non_coding_transcript_exon_variant,,ENST00000531530,;AMICA1,downstream_gene_variant,,ENST00000529164,;							MODERATE	1081/1185	Y361H	JAML1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000348635		CCDS41723.1			1	
KIRREL	0	LGGM	GRCh37	1	158058205	158058205	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	57	32	.	.	ENST00000359209.6:c.1005C>G	p.Pro335=	p.P335=	ENST00000359209		335	ccC/ccG	0	1	1	UPI0000443FBD	0		ENST00000359209		ENSG00000183853	15734		89			HGNC	p.P335P		KIRREL		SNV							ENST00000359209	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF14,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		G		1072/2874							YES	KIRREL,synonymous_variant,p.=,ENST00000368172,NM_001286349.1;KIRREL,synonymous_variant,p.=,ENST00000368173,NM_018240.5;KIRREL,synonymous_variant,p.=,ENST00000360089,;KIRREL,synonymous_variant,p.=,ENST00000392272,;KIRREL,synonymous_variant,p.=,ENST00000359209,;KIRREL,synonymous_variant,p.=,ENST00000416935,;							LOW	1005/2274		KIRR1_HUMAN			Transcript			.	ENSP00000352138		CCDS1172.2			1	
APCDD1	0	LGGM	GRCh37	18	10468530	10468530	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	34	32	.	.	ENST00000355285.5:c.123A>T	p.Lys41Asn	p.K41N	ENST00000355285	NM_153000.4	41	aaA/aaT	0	1	1	UPI000000D766	0	NA	ENST00000355285		ENSG00000154856	15718		66	1.7		HGNC	p.K41N		APCDD1		SNV			1				ENST00000578882	protein_coding	getma.org/?cm=var&var=hg19,18,10468530,A,T&fts=all		hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2		K/N		T	low	477/3809		getma.org/?cm=msa&ty=f&p=APCD1_HUMAN&rb=1&re=512&var=K41N	tolerated(0.07)				YES	APCDD1,missense_variant,p.Lys41Asn,ENST00000355285,NM_153000.4;APCDD1,missense_variant,p.Lys41Asn,ENST00000578882,;APCDD1,upstream_gene_variant,,ENST00000584596,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,intron_variant,,ENST00000582723,;APCDD1,upstream_gene_variant,,ENST00000579685,;							MODERATE	123/1545	K41N	APCD1_HUMAN			Transcript		benign(0.02)	.	ENSP00000347433		CCDS11849.1			1	
KCNA3	0	LGGM	GRCh37	1	111216309	111216309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	51	33	.	.	ENST00000369769.2:c.1123T>A	p.Phe375Ile	p.F375I	ENST00000369769	NM_002232.3	375	Ttc/Atc	0	1	1	UPI000013FB79	0	getma.org/pdb.php?prot=KCNA3_HUMAN&from=297&to=479&var=F375I	ENST00000369769		ENSG00000177272	6221		84	2.575		HGNC	p.F375I		KCNA3		SNV							ENST00000369769	protein_coding	getma.org/?cm=var&var=hg19,1,111216309,A,T&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF28,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324		F/I		T	medium	1347/3346		getma.org/?cm=msa&ty=f&p=KCNA3_HUMAN&rb=297&re=479&var=F375I	deleterious(0)	Q6P2D3_HUMAN,B2RA23_HUMAN			YES	KCNA3,missense_variant,p.Phe375Ile,ENST00000369769,NM_002232.3;							MODERATE	1123/1728	F375I	KCNA3_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000358784		CCDS828.2			1	
C10orf71	0	LGGM	GRCh37	10	50532128	50532128	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	74	33	.	.	ENST00000374144.3:c.1538C>T	p.Thr513Ile	p.T513I	ENST00000374144		513	aCa/aTa	0	1	1	UPI0000161572	0	NA	ENST00000374144		ENSG00000177354	26973		107	1.935		HGNC	p.T513I	rs750947211	C10orf71	6.08E-05	SNV							ENST00000374144	protein_coding	getma.org/?cm=var&var=hg19,10,50532128,C,T&fts=all				T/I		T	medium	1826/5230		getma.org/?cm=msa&ty=f&p=CJ071_HUMAN&rb=2&re=699&var=T513I	tolerated(0.2)				YES	C10orf71,missense_variant,p.Thr513Ile,ENST00000374144,;C10orf71,missense_variant,p.Thr513Ile,ENST00000323868,NM_001135196.1;							MODERATE	1538/4308	T513I	CJ071_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000363259	8.26E-06	CCDS44387.1			1	
AGBL3	0	LGGM	GRCh37	7	134719051	134719051	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	45	34	.	.	ENST00000436302.2:c.709C>T	p.Arg237Trp	p.R237W	ENST00000436302	NM_178563.3	237	Cgg/Tgg	0	1	1	UPI000192952B	0	NA	ENST00000436302		ENSG00000146856	27981		79	2.015		HGNC	p.R237W	rs777848723	AGBL3	0.000253	SNV							ENST00000275763	protein_coding	getma.org/?cm=var&var=hg19,7,134719051,C,T&fts=all		hmmpanther:PTHR12756:SF6,hmmpanther:PTHR12756		R/W		T	medium	962/3533		getma.org/?cm=msa&ty=f&p=CBPC3_HUMAN&rb=201&re=306&var=R237W	deleterious(0.04)				YES	AGBL3,missense_variant,p.Arg211Trp,ENST00000458078,;AGBL3,missense_variant,p.Arg237Trp,ENST00000436302,NM_178563.3;AGBL3,missense_variant,p.Arg237Trp,ENST00000435976,;AGBL3,missense_variant,p.Arg237Trp,ENST00000275763,;							MODERATE	709/2763	R237W	CBPC3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000388275	7.96E-05	CCDS47718.1			1	
SLC26A7	0	LGGM	GRCh37	8	92378923	92378923	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	64	34	.	.	ENST00000309536.2:c.1604A>T	p.Gln535Leu	p.Q535L	ENST00000309536	NM_134266.1	535	cAg/cTg	0	1		UPI0000046B1E	0	NA	ENST00000276609		ENSG00000147606	14467		98	1.25		HGNC	p.Q535L		SLC26A7		SNV							ENST00000309536	protein_coding	getma.org/?cm=var&var=hg19,8,92378923,A,T&fts=all		Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF75		Q/L		T	low	1843/5263		getma.org/?cm=msa&ty=f&p=S26A7_HUMAN&rb=493&re=637&var=Q535L	tolerated(0.13)	E5RFH2_HUMAN				SLC26A7,missense_variant,p.Gln535Leu,ENST00000276609,NM_052832.2,NM_001282356.1;SLC26A7,missense_variant,p.Gln535Leu,ENST00000523719,;SLC26A7,missense_variant,p.Gln535Leu,ENST00000309536,NM_134266.1;SLC26A7,non_coding_transcript_exon_variant,,ENST00000520249,;SLC26A7,non_coding_transcript_exon_variant,,ENST00000517930,;SLC26A7,3_prime_UTR_variant,,ENST00000522181,;							MODERATE	1604/1971	Q535L	S26A7_HUMAN			Transcript		benign(0.009)	.	ENSP00000276609		CCDS6254.1			1	
MUC16	0	LGGM	GRCh37	19	9070650	9070651	+	frameshift_variant	Frame_Shift_Del	DEL	TG	TG	-	novel	by Submitter	H060607	H060607N.bam	TG	TG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	39	34	.	.	ENST00000397910.4:c.16795_16796del	p.Gln5599GlyfsTer132	p.Q5599Gfs*132	ENST00000397910	NM_024690.2	5599	CAg/g	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		73			HGNC	p.5599_5599del		MUC16		deletion							ENST00000397910	protein_coding					Q/X		-		16999-17000/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,frameshift_variant,p.Gln5599GlyfsTer132,ENST00000397910,NM_024690.2;							HIGH	16795-16796/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
PTCD2	0	LGGM	GRCh37	5	71622459	71622459	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	41	35	.	.	ENST00000380639.5:c.241A>T	p.Lys81Ter	p.K81*	ENST00000380639	NM_024754.3	81	Aaa/Taa	0	1		UPI000066D9F8	0	NA	ENST00000308077		ENSG00000049883	25734		76	0		HGNC	p.K81X		PTCD2		SNV							ENST00000380639	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,5,71622459,A,T&fts=all		hmmpanther:PTHR14700		K/*		T	NA	251/2195		NA		D6RGK0_HUMAN,B3KPU6_HUMAN				PTCD2,stop_gained,p.Lys81Ter,ENST00000380639,NM_024754.3;PTCD2,stop_gained,p.Lys81Ter,ENST00000543322,;PTCD2,5_prime_UTR_variant,,ENST00000536805,NM_001284404.1;PTCD2,5_prime_UTR_variant,,ENST00000510676,;PTCD2,intron_variant,,ENST00000503868,NM_001284403.1;PTCD2,intron_variant,,ENST00000493283,;PTCD2,stop_gained,p.Lys81Ter,ENST00000308077,;PTCD2,stop_gained,p.Lys76Ter,ENST00000503315,;PTCD2,stop_gained,p.Lys81Ter,ENST00000515198,;PTCD2,3_prime_UTR_variant,,ENST00000486995,;PTCD2,intron_variant,,ENST00000511752,;							HIGH	241/1167	K81*	PTCD2_HUMAN			Transcript			.	ENSP00000308948		CCDS4014.2			1	
COL28A1	0	LGGM	GRCh37	7	7398364	7398364	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	65	35	.	.	ENST00000399429.3:c.3278A>T	p.Gln1093Leu	p.Q1093L	ENST00000399429	NM_001037763.2	1093	cAg/cTg	0	1	1	UPI000155D64E	0	getma.org/pdb.php?prot=COSA1_HUMAN&from=1071&to=1123&var=Q1093L	ENST00000399429		ENSG00000215018	22442		100	1.655		HGNC	p.Q48L		COL28A1		SNV							ENST00000453441	protein_coding	getma.org/?cm=var&var=hg19,7,7398364,T,A&fts=all		PROSITE_profiles:PS50279,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Gene3D:4.10.410.10,Pfam_domain:PF00014,SMART_domains:SM00131,Superfamily_domains:SSF57362		Q/L		A	low	3419/4277		getma.org/?cm=msa&ty=f&p=COSA1_HUMAN&rb=1071&re=1123&var=Q1093L	deleterious(0.02)	H7C3P2_HUMAN,H7BZU0_HUMAN			YES	COL28A1,missense_variant,p.Gln1093Leu,ENST00000399429,NM_001037763.2;COL28A1,missense_variant,p.Gln48Leu,ENST00000453441,;COL28A1,missense_variant,p.Gln110Leu,ENST00000430711,;							MODERATE	3278/3378	Q1093L	COSA1_HUMAN			Transcript		benign(0.207)	.	ENSP00000382356		CCDS43553.1			1	
C10orf90	0	LGGM	GRCh37	10	128153388	128153388	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	45	36	.	.	ENST00000284694.7:c.1411A>T	p.Arg471Ter	p.R471*	ENST00000284694	NM_001004298.2	471	Aga/Tga	0	1	1	UPI00001D808F	0	NA	ENST00000284694		ENSG00000154493	26563		81	0		HGNC	p.R471X		C10orf90		SNV							ENST00000284694	protein_coding	getma.org/?cm=var&var=hg19,10,128153388,T,A&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF10		R/*		A	NA	1532/3076		NA		S4R3N7_HUMAN,Q5T025_HUMAN			YES	C10orf90,stop_gained,p.Arg471Ter,ENST00000284694,NM_001004298.2;C10orf90,stop_gained,p.Arg424Ter,ENST00000356858,;C10orf90,stop_gained,p.Arg568Ter,ENST00000544758,;C10orf90,stop_gained,p.Arg471Ter,ENST00000432642,;C10orf90,intron_variant,,ENST00000454341,;C10orf90,intron_variant,,ENST00000424927,;C10orf90,upstream_gene_variant,,ENST00000480379,;							HIGH	1411/2100	R471*	CJ090_HUMAN			Transcript			.	ENSP00000284694		CCDS31310.1			1	
KIF4B	0	LGGM	GRCh37	5	154394658	154394658	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	59	36	.	.	ENST00000435029.4:c.1239A>T	p.Thr413=	p.T413=	ENST00000435029	NM_001099293.1	413	acA/acT	0	1	1	UPI000013D5DB	0		ENST00000435029		ENSG00000226650	6322		95			HGNC	p.T413T		KIF4B		SNV							ENST00000435029	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392		T		T		1399/4426							YES	KIF4B,synonymous_variant,p.=,ENST00000435029,NM_001099293.1;							LOW	1239/3705		KIF4B_HUMAN			Transcript			.	ENSP00000387875		CCDS47324.1			1	
ERC2	0	LGGM	GRCh37	3	56114945	56114945	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	56	37	.	.	ENST00000288221.6:c.1541A>T	p.Gln514Leu	p.Q514L	ENST00000288221	NM_015576.1	514	cAg/cTg	0	1	1	UPI00001C1572	0	NA	ENST00000288221		ENSG00000187672	31922		93	1.485		HGNC	p.Q514L		ERC2		SNV							ENST00000288221	protein_coding	getma.org/?cm=var&var=hg19,3,56114945,T,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF3,Superfamily_domains:SSF57997		Q/L		A	low	1797/6138		getma.org/?cm=msa&ty=f&p=ERC2_HUMAN&rb=150&re=911&var=Q514L	tolerated(0.06)				YES	ERC2,missense_variant,p.Gln514Leu,ENST00000288221,NM_015576.1;ERC2,missense_variant,p.Gln153Leu,ENST00000492584,;ERC2,missense_variant,p.Gln514Leu,ENST00000460849,;							MODERATE	1541/2874	Q514L	ERC2_HUMAN			Transcript		benign(0.06)	.	ENSP00000288221		CCDS46851.1			1	
RYR3	0	LGGM	GRCh37	15	33925219	33925219	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	70	38	.	.	ENST00000389232.4:c.2937A>C	p.Gln979His	p.Q979H	ENST00000389232	NM_001036.3	979	caA/caC	0	1	1	UPI0000E5B01A	0	getma.org/pdb.php?prot=RYR3_HUMAN&from=962&to=1056&var=Q979H	ENST00000389232		ENSG00000198838	10485		108	1.83		HGNC	p.Q979H		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33925219,A,C&fts=all		Pfam_domain:PF02026,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		Q/H		C	low	3007/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=962&re=1056&var=Q979H					YES	RYR3,missense_variant,p.Gln979His,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Gln979His,ENST00000415757,NM_001243996.1;							MODERATE	2937/14613	Q979H	RYR3_HUMAN			Transcript		benign(0.251)	.	ENSP00000373884		CCDS45210.1			1	
FRMPD1	0	LGGM	GRCh37	9	37744957	37744957	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	50	38	.	.	ENST00000539465.1:c.2928A>T	p.Ser976=	p.S976=	ENST00000539465		976	tcA/tcT	0	1		UPI000013D2CC	0		ENST00000377765		ENSG00000070601	29159		88			HGNC	p.S976S		FRMPD1		SNV							ENST00000377765	protein_coding			hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		S		T		3027/4971				F5H0G3_HUMAN				FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;FRMPD1,downstream_gene_variant,,ENST00000536622,;FRMPD1,downstream_gene_variant,,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;							LOW	2928/4737		FRPD1_HUMAN			Transcript			.	ENSP00000366995		CCDS6612.1			1	
SPINK8	0	LGGM	GRCh37	3	48361002	48361002	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	53	40	.	.	ENST00000434006.1:c.224T>A	p.Leu75Gln	p.L75Q	ENST00000434006	NM_001080525.1	75	cTg/cAg	0	1	1	UPI00006C0662	0		ENST00000434006		ENSG00000229453	33160		93			HGNC	p.L75Q		SPINK8		SNV							ENST00000434006	protein_coding			Gene3D:3.30.60.30,Pfam_domain:PF00050,PROSITE_profiles:PS51465,hmmpanther:PTHR21312,hmmpanther:PTHR21312:SF30,SMART_domains:SM00280,Superfamily_domains:SSF100895		L/Q		T		224/440			deleterious(0)				YES	SPINK8,missense_variant,p.Leu75Gln,ENST00000434006,NM_001080525.1;MIR2115,upstream_gene_variant,,ENST00000516657,;							MODERATE	224/294		ISK8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000407497		CCDS46822.1			1	
SLC8A1	0	LGGM	GRCh37	2	40656441	40656441	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	81	40	.	.	ENST00000403092.1:c.980C>A	p.Ala327Asp	p.A327D	ENST00000403092		327	gCt/gAt	0	1		UPI000012FC46	0	NA	ENST00000332839		ENSG00000183023	11068		121	2.105		HGNC	p.A327D		SLC8A1		SNV							ENST00000405269	protein_coding	getma.org/?cm=var&var=hg19,2,40656441,G,T&fts=all		PROSITE_profiles:PS50076,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00845		A/D		T	medium	980/2922		getma.org/?cm=msa&ty=f&p=NAC1_HUMAN&rb=250&re=395&var=A327D	deleterious(0)	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN				SLC8A1,missense_variant,p.Ala327Asp,ENST00000406785,;SLC8A1,missense_variant,p.Ala327Asp,ENST00000542756,;SLC8A1,missense_variant,p.Ala327Asp,ENST00000403092,;SLC8A1,missense_variant,p.Ala327Asp,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Ala327Asp,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Ala327Asp,ENST00000405269,;SLC8A1,missense_variant,p.Ala327Asp,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Ala327Asp,ENST00000408028,NM_001252624.1;SLC8A1,missense_variant,p.Ala327Asp,ENST00000542024,;SLC8A1,missense_variant,p.Ala327Asp,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Ala324Asp,ENST00000407929,;							MODERATE	980/2922	A327D	NAC1_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000332931		CCDS1806.1			1	
POLR3B	0	LGGM	GRCh37	12	106824197	106824197	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060607	H060607N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	47	40	.	.	ENST00000228347.4:c.1410C>T	p.Ser470=	p.S470=	ENST00000228347	NM_018082.5	470	tcC/tcT	0	1	1	UPI000000DB67	0		ENST00000228347		ENSG00000013503	30348		87			HGNC	p.S470S		POLR3B		SNV			1				ENST00000228347	protein_coding			Gene3D:2a6hC02,Pfam_domain:PF04565,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Superfamily_domains:SSF64484		S		T		1632/4273				F8VRU2_HUMAN,B3KRQ8_HUMAN			YES	POLR3B,synonymous_variant,p.=,ENST00000228347,NM_018082.5;POLR3B,synonymous_variant,p.=,ENST00000539066,NM_001160708.1;POLR3B,downstream_gene_variant,,ENST00000549569,;POLR3B,downstream_gene_variant,,ENST00000549195,;							LOW	1410/3402		RPC2_HUMAN			Transcript			.	ENSP00000228347		CCDS9105.1			1	
DPY19L3	0	LGGM	GRCh37	19	32954812	32954812	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	67	41	.	.	ENST00000342179.5:c.1483G>A	p.Ala495Thr	p.A495T	ENST00000342179	NM_207325.2	495	Gca/Aca	0	1	1	UPI00001C10BE	0	NA	ENST00000342179		ENSG00000178904	27120		108	2.295		HGNC	p.A495T	rs368605704,COSM3764725	DPY19L3		SNV	A:0					0,1	ENST00000586987	protein_coding	getma.org/?cm=var&var=hg19,19,32954812,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF4,Pfam_domain:PF10034		A/T	A:0.0002	A	medium	1698/6015	5.99E-05	getma.org/?cm=msa&ty=f&p=D19L3_HUMAN&rb=54&re=712&var=A495T	tolerated(0.22)	K7ELG1_HUMAN			YES	DPY19L3,missense_variant,p.Ala495Thr,ENST00000342179,NM_207325.2;DPY19L3,missense_variant,p.Ala495Thr,ENST00000392250,NM_001172774.1;DPY19L3,missense_variant,p.Ala495Thr,ENST00000586987,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000590651,;DPY19L3,missense_variant,p.Ala262Thr,ENST00000588648,;DPY19L3,missense_variant,p.Ala90Thr,ENST00000592832,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000592142,;DPY19L3,downstream_gene_variant,,ENST00000585597,;					0,1		MODERATE	1483/2151	A495T	D19L3_HUMAN	0.000302		Transcript		probably_damaging(0.954)	.	ENSP00000344937	5.77E-05	CCDS12422.1	0.0011		1	
TAS2R30	0	LGGM	GRCh37	12	11286230	11286230	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	95	42	.	.	ENST00000539585.1:c.614A>T	p.His205Leu	p.H205L	ENST00000539585	NM_001097643.1	205	cAt/cTt	0	1	1	UPI000006202F	0	NA	ENST00000539585		ENSG00000256188	19112	0.00095	137	3.275		HGNC	p.H205L	rs573347121	TAS2R30		SNV							ENST00000539585	protein_coding	getma.org/?cm=var&var=hg19,12,11286230,T,A&fts=all	A:0	hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF48,Pfam_domain:PF05296,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		H/L		A	medium	1014/1687		getma.org/?cm=msa&ty=f&p=T2R30_HUMAN&rb=1&re=298&var=H205L	deleterious(0.01)	Q50KG7_HUMAN	A:0.0029	A:0	YES	TAS2R30,missense_variant,p.His205Leu,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,;		A:0.0004					MODERATE	614/960	H205L			A:0	Transcript		benign(0.234)	common_variant	ENSP00000444736	9.06E-05	CCDS53750.1		A:0	1	
ABCA13	0	LGGM	GRCh37	7	48416046	48416046	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	102	44	.	.	ENST00000435803.1:c.11212T>C	p.Trp3738Arg	p.W3738R	ENST00000435803	NM_152701.3	3738	Tgg/Cgg	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		146	3.17		HGNC	p.W3738R	COSM1243903,COSM1243902	ABCA13		SNV						1,1	ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48416046,T,C&fts=all		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		W/R		C	medium	11236/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3303&re=3772&var=W3738R					YES	ABCA13,missense_variant,p.Trp3738Arg,ENST00000435803,NM_152701.3;ABCA13,missense_variant,p.Trp4Arg,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;					1,1		MODERATE	11212/15177	W3738R	ABCAD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000411096		CCDS47584.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20185784	20185802	+	frameshift_variant	Frame_Shift_Del	DEL	TTTGTCTAAGAATTTTATC	TTTGTCTAAGAATTTTATC	-	novel	by Submitter	H060607	H060607N.bam	TTTGTCTAAGAATTTTATC	TTTGTCTAAGAATTTTATC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	47	45	.	.	ENST00000379565.3:c.1507_1525del	p.Asp503AsnfsTer15	p.D503Nfs*15	ENST00000379565	NM_004586.2	503	GATAAAATTCTTAGACAAAaa/aa	0	1	1	UPI000012DB2E	0		ENST00000379565		ENSG00000177189	10432		92			HGNC	p.473_479del		RPS6KA3		deletion			1				ENST00000379548	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		DKILRQK/X		-		1715-1733/7918				Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,frameshift_variant,p.Asp503AsnfsTer15,ENST00000379565,NM_004586.2;RPS6KA3,frameshift_variant,p.Asp475AsnfsTer15,ENST00000544447,;RPS6KA3,frameshift_variant,p.Asp474AsnfsTer15,ENST00000540702,;RPS6KA3,frameshift_variant,p.Asp473AsnfsTer15,ENST00000379548,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000479809,;							HIGH	1507-1525/2223		KS6A3_HUMAN			Transcript			.	ENSP00000368884		CCDS14197.1			1	
PTPRT	0	LGGM	GRCh37	20	41400164	41400164	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060607	H060607N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	65	46	.	.	ENST00000373198.4:c.595C>T	p.Gln199Ter	p.Q199*	ENST00000373198	NM_133170.3	199	Caa/Taa	0	1	1	UPI0000246C03	0	NA	ENST00000373187		ENSG00000196090	9682		111	0		HGNC	p.Q199X		PTPRT		SNV							ENST00000373198	protein_coding	getma.org/?cm=var&var=hg19,20,41400164,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		Q/*		A	NA	595/12453		NA					YES	PTPRT,stop_gained,p.Gln199Ter,ENST00000373198,NM_133170.3;PTPRT,stop_gained,p.Gln199Ter,ENST00000373201,;PTPRT,stop_gained,p.Gln199Ter,ENST00000373193,NM_007050.5;PTPRT,stop_gained,p.Gln199Ter,ENST00000373190,;PTPRT,stop_gained,p.Gln199Ter,ENST00000373184,;PTPRT,stop_gained,p.Gln199Ter,ENST00000356100,;PTPRT,stop_gained,p.Gln199Ter,ENST00000373187,;							HIGH	595/4326	Q199*	PTPRT_HUMAN			Transcript			.	ENSP00000362283		CCDS42874.1			1	
CNIH4	0	LGGM	GRCh37	1	224553646	224553648	+	inframe_deletion	In_Frame_Del	DEL	GTT	GTT	-	novel	by Submitter	H060607	H060607N.bam	GTT	GTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	54	46	.	.	ENST00000465271.1:c.204_206del	p.Trp68_Phe69delinsCys	p.W68_F69delinsC	ENST00000465271	NM_014184.3	68	tgGTTc/tgc	0	1	1	UPI000012BF0E	0		ENST00000465271		ENSG00000143771	25013		100			HGNC	p.68_69del		CNIH4		deletion							ENST00000366858	protein_coding			Pfam_domain:PF03311,hmmpanther:PTHR12290,hmmpanther:PTHR12290:SF14,Transmembrane_helices:TMhelix		WF/C		-		279-281/4125							YES	CNIH4,inframe_deletion,p.Trp68_Phe69delinsCys,ENST00000465271,NM_014184.3;CNIH4,inframe_deletion,p.Trp68_Phe69delinsCys,ENST00000366857,NM_001277197.1;CNIH4,inframe_deletion,p.Trp68_Phe69delinsCys,ENST00000366856,NM_001277200.1;CNIH4,inframe_deletion,p.Trp68_Phe69delinsCys,ENST00000366858,;CNIH4,non_coding_transcript_exon_variant,,ENST00000468318,;CNIH4,non_coding_transcript_exon_variant,,ENST00000366860,;CNIH4,non_coding_transcript_exon_variant,,ENST00000477413,;							MODERATE	204-206/420		CNIH4_HUMAN			Transcript			.	ENSP00000420443		CCDS1543.1			1	
TRBV6-6	0	LGGM	GRCh37	7	142162005	142162005	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	90	48	.	.	ENST00000390371.3:c.270A>T	p.Thr90=	p.T90=	ENST00000390371		90	acA/acT	0	1	1	UPI0001AE7162	0		ENST00000390371		ENSG00000211724	12231		138			HGNC	p.T90T		TRBV6-6		SNV							ENST00000390371	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF18,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		T		A		314/388							YES	TRBV6-6,synonymous_variant,p.=,ENST00000390371,;TRBV7-5,upstream_gene_variant,,ENST00000390382,;							LOW	270/344					Transcript			.	ENSP00000374894					1	
CTNNAL1	0	LGGM	GRCh37	9	111761481	111761481	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	77	54	.	.	ENST00000325551.4:c.197A>C	p.Gln66Pro	p.Q66P	ENST00000325551	NM_003798.2	66	cAa/cCa	0	1	1	UPI0000070AF1	0	NA	ENST00000325551		ENSG00000119326	2512		131	1.935		HGNC	p.Q66P		CTNNAL1		SNV							ENST00000325580	protein_coding	getma.org/?cm=var&var=hg19,9,111761481,T,G&fts=all		Pfam_domain:PF01044,hmmpanther:PTHR18914,hmmpanther:PTHR18914:SF8		Q/P		G	medium	284/2490		getma.org/?cm=msa&ty=f&p=CTNL1_HUMAN&rb=31&re=310&var=Q66P	deleterious(0.01)	Q5JTQ9_HUMAN			YES	CTNNAL1,missense_variant,p.Gln66Pro,ENST00000374595,NM_001286974.1;CTNNAL1,missense_variant,p.Gln66Pro,ENST00000325551,NM_003798.2;CTNNAL1,missense_variant,p.Gln66Pro,ENST00000325580,;CTNNAL1,missense_variant,p.Gln66Pro,ENST00000374593,;							MODERATE	197/2205	Q66P	CTNL1_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000320434		CCDS6775.1			1	
ACO2	0	LGGM	GRCh37	22	41895755	41895755	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	98	58	.	.	ENST00000216254.4:c.62A>T	p.His21Leu	p.H21L	ENST00000216254	NM_001098.2	21	cAt/cTt	0	1	1	UPI000003CA3B	0	NA	ENST00000216254		ENSG00000100412	118		156	1.81		HGNC	p.H21L		ACO2		SNV			1				ENST00000396512	protein_coding	getma.org/?cm=var&var=hg19,22,41895755,A,T&fts=all				H/L		T	low	84/2741		getma.org/?cm=msa&ty=f&p=ACON_HUMAN&rb=1&re=63&var=H21L	tolerated_low_confidence(0.2)	B4DZ08_HUMAN,B4DEC3_HUMAN			YES	ACO2,missense_variant,p.His21Leu,ENST00000396512,;ACO2,missense_variant,p.His21Leu,ENST00000216254,NM_001098.2;ACO2,intron_variant,,ENST00000471094,;							MODERATE	62/2343	H21L	ACON_HUMAN			Transcript		benign(0.002)	.	ENSP00000216254		CCDS14017.1			1	
NEK11	0	LGGM	GRCh37	3	130881250	130881250	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	88	62	.	.	ENST00000383366.4:c.963-2A>T		p.X321_splice	ENST00000383366	NM_024800.4			0	1	1	UPI000013F25D	0		ENST00000383366		ENSG00000114670	18593		150			HGNC	-	COSM581705	NEK11		SNV						1	ENST00000356918	protein_coding							T		-/2914							YES	NEK11,splice_acceptor_variant,,ENST00000383366,NM_024800.4;NEK11,splice_acceptor_variant,,ENST00000429253,;NEK11,splice_acceptor_variant,,ENST00000510688,NM_001146003.1;NEK11,splice_acceptor_variant,,ENST00000412440,;NEK11,splice_acceptor_variant,,ENST00000510769,;NEK11,splice_acceptor_variant,,ENST00000511262,NM_145910.3;NEK11,splice_acceptor_variant,,ENST00000508196,;NEK11,splice_acceptor_variant,,ENST00000507910,;NEK11,splice_acceptor_variant,,ENST00000356918,;NEK11,splice_acceptor_variant,,ENST00000514915,;NEK11,splice_acceptor_variant,,ENST00000510474,;NEK11,splice_acceptor_variant,,ENST00000515636,;NEK11,upstream_gene_variant,,ENST00000510823,;					1		HIGH	963/1938		NEK11_HUMAN			Transcript			.	ENSP00000372857		CCDS3069.1			1	
CCNT1	0	LGGM	GRCh37	12	49093617	49093617	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	104	62	.	.	ENST00000261900.3:c.440A>T	p.Glu147Val	p.E147V	ENST00000261900	NM_001240.3	147	gAa/gTa	0	1	1	UPI0000044259	0	getma.org/pdb.php?prot=CCNT1_HUMAN&from=9&to=149&var=E147V	ENST00000261900		ENSG00000129315	1599		166	2.19		HGNC	p.E147V		CCNT1		SNV							ENST00000417344	protein_coding	getma.org/?cm=var&var=hg19,12,49093617,T,A&fts=all		Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF42,Superfamily_domains:SSF47954		E/V		A	medium	663/6973		getma.org/?cm=msa&ty=f&p=CCNT1_HUMAN&rb=9&re=149&var=E147V	deleterious(0.02)				YES	CCNT1,missense_variant,p.Glu147Val,ENST00000261900,NM_001240.3,NM_001277842.1;CCNT1,missense_variant,p.Glu147Val,ENST00000417344,;CCNT1,upstream_gene_variant,,ENST00000551989,;							MODERATE	440/2181	E147V	CCNT1_HUMAN			Transcript		benign(0.018)	.	ENSP00000261900		CCDS8766.1			1	
ZFP28	0	LGGM	GRCh37	19	57066638	57066638	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	183	65	.	.	ENST00000301318.3:c.2484A>T	p.Leu828Phe	p.L828F	ENST00000301318	NM_020828.1	828	ttA/ttT	0	1	1	UPI000006D90E	0	getma.org/pdb.php?prot=ZFP28_HUMAN&from=797&to=868&var=L828F	ENST00000301318		ENSG00000196867	17801		248	3.045		HGNC	p.L828F		ZFP28		SNV							ENST00000301318	protein_coding	getma.org/?cm=var&var=hg19,19,57066638,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		L/F		T	medium	2555/4086		getma.org/?cm=msa&ty=f&p=ZFP28_HUMAN&rb=797&re=868&var=L828F	tolerated(0.53)	Q68CX9_HUMAN			YES	ZFP28,missense_variant,p.Leu828Phe,ENST00000301318,NM_020828.1;ZFP28,downstream_gene_variant,,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,downstream_gene_variant,,ENST00000588163,;							MODERATE	2484/2607	L828F	ZFP28_HUMAN			Transcript		benign(0.004)	.	ENSP00000301318		CCDS12946.1			1	
CCR2	0	LGGM	GRCh37	3	46399610	46399610	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060607	H060607N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	106	67	.	.	ENST00000292301.4:c.592T>C	p.Trp198Arg	p.W198R	ENST00000292301	NM_001123041.2	198	Tgg/Cgg	0	1	1	UPI0000043585	0	getma.org/pdb.php?prot=CCR2_HUMAN&from=59&to=305&var=W198R	ENST00000292301		ENSG00000121807	1603		173	3.34		HGNC	p.W198R		CCR2		SNV			1				ENST00000445132	protein_coding	getma.org/?cm=var&var=hg19,3,46399610,T,C&fts=all		Prints_domain:PR01107,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF73,PROSITE_profiles:PS50262		W/R		C	medium	1077/2671		getma.org/?cm=msa&ty=f&p=CCR2_HUMAN&rb=59&re=305&var=W198R	deleterious(0)	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN			YES	CCR2,missense_variant,p.Trp198Arg,ENST00000292301,NM_001123041.2;CCR2,missense_variant,p.Trp198Arg,ENST00000445132,NM_001123396.1;CCR2,missense_variant,p.Trp198Arg,ENST00000400888,;CCR2,downstream_gene_variant,,ENST00000421659,;CCR2,splice_region_variant,,ENST00000465202,;							MODERATE	592/1125	W198R	CCR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000292301		CCDS43078.1			1	
MEF2A	0	LGGM	GRCh37	15	100214642	100214642	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060607	H060607N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060607N.bam, H060607T.bam	Illumina HiSeq	125	72	.	.	ENST00000354410.5:c.441A>T	p.Pro147=	p.P147=	ENST00000354410	NM_005587.2	147	ccA/ccT	0	1	1	UPI0000073025	0		ENST00000354410		ENSG00000068305	6993		197			HGNC	p.P145P		MEF2A		SNV			1				ENST00000338042	protein_coding			hmmpanther:PTHR11945:SF145,hmmpanther:PTHR11945,Pfam_domain:PF12347		P		T		1070/5824				H0YNI2_HUMAN,H0YM62_HUMAN,H0YKY6_HUMAN,D6RJ95_HUMAN			YES	MEF2A,synonymous_variant,p.=,ENST00000354410,NM_005587.2;MEF2A,synonymous_variant,p.=,ENST00000338042,;MEF2A,synonymous_variant,p.=,ENST00000557942,;MEF2A,synonymous_variant,p.=,ENST00000453228,;MEF2A,synonymous_variant,p.=,ENST00000449277,NM_001130928.1,NM_001130926.1;MEF2A,synonymous_variant,p.=,ENST00000557785,NM_001171894.1;MEF2A,synonymous_variant,p.=,ENST00000558812,NM_001130927.1;MEF2A,downstream_gene_variant,,ENST00000558983,;							LOW	441/1500		MEF2A_HUMAN			Transcript			.	ENSP00000346389		CCDS45362.1			1	
ARHGAP23	0	LGGM	GRCh37	17	36634042	36634042	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	7	2	.	.	ENST00000431231.2:c.2341G>A	p.Ala781Thr	p.A781T	ENST00000431231	NM_001199417.1	781	Gct/Act	0	1	1	UPI0000F3BE51	0	getma.org/pdb.php?prot=RHG23_HUMAN&from=689&to=808&var=A781T	ENST00000431231		ENSG00000225485	29293		9	0.725		HGNC	p.A781T		ARHGAP23		SNV							ENST00000431231	protein_coding	getma.org/?cm=var&var=hg19,17,36634042,G,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF15410,PROSITE_profiles:PS50003,hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5,SMART_domains:SM00233,Superfamily_domains:SSF50729		A/T		A	neutral	2409/5964		getma.org/?cm=msa&ty=f&p=RHG23_HUMAN&rb=689&re=808&var=A781T	tolerated(0.07)	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN			YES	ARHGAP23,missense_variant,p.Ala687Thr,ENST00000443378,;ARHGAP23,missense_variant,p.Ala781Thr,ENST00000431231,NM_001199417.1;ARHGAP23,missense_variant,p.Ala781Thr,ENST00000437668,;ARHGAP23,intron_variant,,ENST00000581782,;ARHGAP23,intron_variant,,ENST00000548333,;ARHGAP23,upstream_gene_variant,,ENST00000578665,;							MODERATE	2341/4476	A781T	RHG23_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000393539		CCDS56027.1			1	
UTP18	0	LGGM	GRCh37	17	49338039	49338039	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	13	3	.	.	ENST00000225298.7:c.94G>A	p.Gly32Arg	p.G32R	ENST00000225298	NM_016001.2	32	Gga/Aga	0	1	1	UPI000051E38C	0	NA	ENST00000225298		ENSG00000011260	24274		16	0.345		HGNC	p.G32R	rs760351468	UTP18	7.15E-05	SNV							ENST00000225298	protein_coding	getma.org/?cm=var&var=hg19,17,49338039,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR18359		G/R		A	neutral	151/1894		getma.org/?cm=msa&ty=f&p=UTP18_HUMAN&rb=1&re=62&var=G32R	tolerated_low_confidence(0.86)				YES	UTP18,missense_variant,p.Gly32Arg,ENST00000225298,NM_016001.2;MBTD1,upstream_gene_variant,,ENST00000586178,NM_017643.2;MBTD1,upstream_gene_variant,,ENST00000376381,;MBTD1,upstream_gene_variant,,ENST00000593259,;MBTD1,upstream_gene_variant,,ENST00000405860,;MBTD1,upstream_gene_variant,,ENST00000591270,;							MODERATE	94/1671	G32R	UTP18_HUMAN			Transcript		benign(0.001)	.	ENSP00000225298	8.33E-06	CCDS42362.1			1	
LARP4	0	LGGM	GRCh37	12	50856366	50856366	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	43	3	.	.	ENST00000398473.2:c.1336A>T	p.Arg446Ter	p.R446*	ENST00000398473	NM_199188.2	446	Aga/Tga	0	1	1	UPI00002293C3	0	NA	ENST00000398473		ENSG00000161813	24320		46	0		HGNC	p.R452X		LARP4		SNV							ENST00000429001	protein_coding	getma.org/?cm=var&var=hg19,12,50856366,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792		R/*		T	NA	1448/6427		NA		Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN			YES	LARP4,stop_gained,p.Arg446Ter,ENST00000398473,NM_199188.2,NM_052879.4;LARP4,stop_gained,p.Arg375Ter,ENST00000293618,NM_001170808.1,NM_001170803.1;LARP4,stop_gained,p.Arg452Ter,ENST00000429001,;LARP4,stop_gained,p.Arg375Ter,ENST00000347328,NM_199190.2;LARP4,stop_gained,p.Arg445Ter,ENST00000518444,;LARP4,stop_gained,p.Arg233Ter,ENST00000520064,;LARP4,downstream_gene_variant,,ENST00000518561,;LARP4,downstream_gene_variant,,ENST00000522085,NM_001170804.1;							HIGH	1336/2175	R446*	LARP4_HUMAN			Transcript			.	ENSP00000381490		CCDS41782.1			1	
STK16	0	LGGM	GRCh37	2	220111301	220111301	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	41	3	.	.	ENST00000409638.3:c.87-78T>C		*29*	ENST00000409638	NM_001008910.2			0	1		UPI0000035BA8	0		ENST00000396738		ENSG00000115661	11394		44			HGNC	p.T48T		STK16		SNV							ENST00000409260	protein_coding							C		-/1673								STK16,synonymous_variant,p.=,ENST00000409260,;STK16,intron_variant,,ENST00000409638,NM_001008910.2;STK16,intron_variant,,ENST00000396738,;STK16,intron_variant,,ENST00000409743,;STK16,intron_variant,,ENST00000409516,;GLB1L,upstream_gene_variant,,ENST00000295759,NM_001286423.1;GLB1L,upstream_gene_variant,,ENST00000392089,NM_024506.3;TUBA4A,downstream_gene_variant,,ENST00000392088,NM_001278552.1;GLB1L,upstream_gene_variant,,ENST00000356283,NM_001286427.1;TUBA4A,downstream_gene_variant,,ENST00000248437,NM_006000.2;GLB1L,upstream_gene_variant,,ENST00000409640,NM_001286427.1;TUBA4A,downstream_gene_variant,,ENST00000427737,;GLB1L,upstream_gene_variant,,ENST00000428427,;TUBA4A,downstream_gene_variant,,ENST00000456818,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4A,downstream_gene_variant,,ENST00000398989,;GLB1L,upstream_gene_variant,,ENST00000432839,;GLB1L,upstream_gene_variant,,ENST00000440853,;GLB1L,upstream_gene_variant,,ENST00000424620,;STK16,intron_variant,,ENST00000486813,;TUBA4A,downstream_gene_variant,,ENST00000498660,;STK16,non_coding_transcript_exon_variant,,ENST00000496443,;STK16,non_coding_transcript_exon_variant,,ENST00000478018,;STK16,intron_variant,,ENST00000475696,;STK16,intron_variant,,ENST00000496800,;STK16,intron_variant,,ENST00000475342,;STK16,intron_variant,,ENST00000461417,;TUBA4A,downstream_gene_variant,,ENST00000462806,;TUBA4A,downstream_gene_variant,,ENST00000475683,;GLB1L,upstream_gene_variant,,ENST00000447002,;STK16,downstream_gene_variant,,ENST00000491697,;GLB1L,upstream_gene_variant,,ENST00000467548,;GLB1L,upstream_gene_variant,,ENST00000459951,;GLB1L,upstream_gene_variant,,ENST00000471516,;							MODIFIER	-/918		STK16_HUMAN			Transcript			.	ENSP00000379964		CCDS42822.1			1	
KCTD19	0	LGGM	GRCh37	16	67324849	67324849	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	10	3	.	.	ENST00000304372.5:c.2606T>A	p.Leu869Gln	p.L869Q	ENST00000304372	NM_001100915.1	869	cTg/cAg	0	1	1	UPI00001D7875	0	NA	ENST00000304372		ENSG00000168676	24753		13	0.695		HGNC	p.L869Q		KCTD19		SNV							ENST00000304372	protein_coding	getma.org/?cm=var&var=hg19,16,67324849,A,T&fts=all				L/Q		T	neutral	2662/2958		getma.org/?cm=msa&ty=f&p=KCD19_HUMAN&rb=724&re=923&var=L869Q	deleterious(0)	J3KSZ9_HUMAN,H3BVC0_HUMAN			YES	KCTD19,missense_variant,p.Leu869Gln,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,;							MODERATE	2606/2781	L869Q	KCD19_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305702		CCDS42179.1			1	
TRAV12-1	0	LGGM	GRCh37	14	22309766	22309766	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	28	3	.	.	ENST00000390433.1:c.147T>A	p.Ser49Arg	p.S49R	ENST00000390433		49	agT/agA	0	1	1	UPI000011C708	0		ENST00000390433		ENSG00000211785	12105		31			HGNC	p.S49R		TRAV12-1		SNV							ENST00000390433	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19343,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		S/R		A		150/340			tolerated(0.14)				YES	TRAV12-1,missense_variant,p.Ser49Arg,ENST00000390433,;TRAV8-2,upstream_gene_variant,,ENST00000390434,;							MODERATE	147/337					Transcript		benign(0.16)	.	ENSP00000445405					1	
APC	0	LGGM	GRCh37	5	112178768	112178768	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	45	3	.	.	ENST00000257430.4:c.7477C>G	p.Leu2493Val	p.L2493V	ENST00000257430	NM_000038.5	2493	Cta/Gta	0	1		UPI000013CF60	0	NA	ENST00000257430		ENSG00000134982	583		48	2.005		HGNC	p.L2493V		APC		SNV			1				ENST00000257430	protein_coding	getma.org/?cm=var&var=hg19,5,112178768,C,G&fts=all		hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11,Pfam_domain:PF05956		L/V		G	medium	7533/10701		getma.org/?cm=msa&ty=f&p=APC_HUMAN&rb=2223&re=2579&var=L2493V		Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN				APC,missense_variant,p.Leu2493Val,ENST00000457016,;APC,missense_variant,p.Leu2493Val,ENST00000257430,NM_000038.5;APC,missense_variant,p.Leu2493Val,ENST00000508376,NM_001127510.2;APC,downstream_gene_variant,,ENST00000512211,;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2;CTC-554D6.1,intron_variant,,ENST00000520401,;APC,downstream_gene_variant,,ENST00000508624,;APC,downstream_gene_variant,,ENST00000502371,;							MODERATE	7477/8532	L2493V	APC_HUMAN			Transcript		benign(0.07)	.	ENSP00000257430		CCDS4107.1			1	
PCDH11X	0	LGGM	GRCh37	X	91090927	91090927	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	4	3	.	.	ENST00000373094.1:c.424A>G	p.Thr142Ala	p.T142A	ENST00000373094	NM_032968.3	142	Aca/Gca	0	1	1	UPI0000070BD8	0	getma.org/pdb.php?prot=PC11X_HUMAN&from=140&to=249&var=T142A	ENST00000373094		ENSG00000102290	8656		7	-0.395		HGNC	p.T142A	rs780678416	PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91090927,A,G&fts=all		Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268		T/A		G	neutral	1269/9176	2.32E-05	getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=140&re=249&var=T142A	deleterious(0.04)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Thr142Ala,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Thr142Ala,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Thr142Ala,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Thr142Ala,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Thr142Ala,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Thr142Ala,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr142Ala,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Thr142Ala,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr142Ala,ENST00000298274,;							MODERATE	424/4044	T142A	PC11X_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000362186	1.65E-05	CCDS14461.1			1	
C21orf128	0	LGGM	GRCh37	21	43523930	43523930	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	35	3	.	.	ENST00000329015.2:c.303C>A	p.Thr101=	p.T101=	ENST00000329015		101	acC/acA	0	1	1	UPI000006FBA4	0		ENST00000329015		ENSG00000184385	23821		38			HGNC	p.T101T		C21orf128		SNV							ENST00000329015	protein_coding					T		T		455/2141							YES	C21orf128,synonymous_variant,p.=,ENST00000329015,;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000400427,NM_001199527.1;UMODL1,intron_variant,,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;UMODL1,intron_variant,,ENST00000491559,;UMODL1,intron_variant,,ENST00000466434,;UMODL1,intron_variant,,ENST00000400421,;UMODL1,intron_variant,,ENST00000468982,;UMODL1,intron_variant,,ENST00000485357,;UMODL1,intron_variant,,ENST00000497243,;							LOW	303/489		CU128_HUMAN			Transcript			.	ENSP00000328495					1	
UMPS	0	LGGM	GRCh37	3	124449327	124449327	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	27	3	.	.	ENST00000232607.2:c.9C>T	p.Val3=	p.V3=	ENST00000232607	NM_000373.3	3	gtC/gtT	0	1	1	UPI0000001223	0		ENST00000232607		ENSG00000114491	12563		30			HGNC	p.V3V		UMPS		SNV			1				ENST00000497791	protein_coding			HAMAP:MF_01208		V		T		115/2658				B5LY64_HUMAN,A8K5J1_HUMAN			YES	UMPS,synonymous_variant,p.=,ENST00000232607,NM_000373.3;UMPS,5_prime_UTR_variant,,ENST00000536109,;UMPS,5_prime_UTR_variant,,ENST00000538242,;UMPS,5_prime_UTR_variant,,ENST00000413078,;KALRN,downstream_gene_variant,,ENST00000291478,NM_007064.3;MIR544B,upstream_gene_variant,,ENST00000582372,;RP11-71H17.7,downstream_gene_variant,,ENST00000568966,;UMPS,synonymous_variant,p.=,ENST00000479719,;UMPS,synonymous_variant,p.=,ENST00000467167,;UMPS,synonymous_variant,p.=,ENST00000460034,;UMPS,synonymous_variant,p.=,ENST00000462091,;UMPS,synonymous_variant,p.=,ENST00000474588,;UMPS,synonymous_variant,p.=,ENST00000497791,;RP11-71H17.1,downstream_gene_variant,,ENST00000475510,;							LOW	9/1443		UMPS_HUMAN			Transcript			.	ENSP00000232607		CCDS3029.1			1	
MDGA1	0	LGGM	GRCh37	6	37605994	37605994	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	45	3	.	.	ENST00000434837.3:c.2763G>A	p.Thr921=	p.T921=	ENST00000434837	NM_153487.3	921	acG/acA	0	1	1	UPI0000071D28	0		ENST00000434837		ENSG00000112139	19267		48			HGNC	p.T921T		MDGA1		SNV							ENST00000505425	protein_coding			hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66		T		T		3942/8898				D6RHU8_HUMAN,D6RFG6_HUMAN			YES	MDGA1,synonymous_variant,p.=,ENST00000297153,;MDGA1,synonymous_variant,p.=,ENST00000434837,NM_153487.3;MDGA1,synonymous_variant,p.=,ENST00000505425,;MDGA1,downstream_gene_variant,,ENST00000418178,;MDGA1,downstream_gene_variant,,ENST00000503419,;MDGA1,non_coding_transcript_exon_variant,,ENST00000373401,;							LOW	2763/2868		MDGA1_HUMAN			Transcript			.	ENSP00000402584		CCDS47417.1			1	
CHRNB4	0	LGGM	GRCh37	15	78921843	78921843	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	36	3	.	.	ENST00000261751.3:c.804C>A	p.Ile268=	p.I268=	ENST00000261751	NM_000750.3	268	atC/atA	0	1	1	UPI0000125276	0		ENST00000261751		ENSG00000117971	1964		39			HGNC	p.I268I		CHRNB4		SNV							ENST00000261751	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF385,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Gene3D:1.20.120.370,Superfamily_domains:SSF90112		I		T		916/2623							YES	CHRNB4,synonymous_variant,p.=,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,;							LOW	804/1497		ACHB4_HUMAN			Transcript			.	ENSP00000261751		CCDS10306.1			1	
AFF4	0	LGGM	GRCh37	5	132272833	132272833	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	27	3	.	.	ENST00000265343.5:c.49C>T	p.Arg17Trp	p.R17W	ENST00000265343	NM_014423.3	17	Cgg/Tgg	0	1	1	UPI000006F558	0	NA	ENST00000265343		ENSG00000072364	17869		30	2.675		HGNC	p.R17W		AFF4		SNV			1				ENST00000378595	protein_coding	getma.org/?cm=var&var=hg19,5,132272833,G,A&fts=all		Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF15		R/W		A	medium	429/9552		getma.org/?cm=msa&ty=f&p=AFF4_HUMAN&rb=2&re=1160&var=R17W	deleterious(0)	C9JCE0_HUMAN			YES	AFF4,missense_variant,p.Arg17Trp,ENST00000265343,NM_014423.3;AFF4,missense_variant,p.Arg17Trp,ENST00000378595,;AFF4,missense_variant,p.Arg17Trp,ENST00000421773,;AFF4,upstream_gene_variant,,ENST00000425658,;AFF4,non_coding_transcript_exon_variant,,ENST00000491831,;AFF4,upstream_gene_variant,,ENST00000378593,;AFF4,non_coding_transcript_exon_variant,,ENST00000465484,;							MODERATE	49/3492	R17W	AFF4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265343		CCDS4164.1			1	
PRR12	0	LGGM	GRCh37	19	50102784	50102784	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	21	3	.	.	ENST00000418929.2:c.3934A>T	p.Ser1312Cys	p.S1312C	ENST00000418929	NM_020719.1	1312	Agt/Tgt	0	1	1	UPI0001596889	0	NA	ENST00000418929		ENSG00000126464	29217		24	0.895		HGNC	p.S1312C		PRR12		SNV							ENST00000418929	protein_coding	getma.org/?cm=var&var=hg19,19,50102784,A,T&fts=all		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1,Low_complexity_(Seg):seg		S/C		T	low	3946/6955		getma.org/?cm=msa&ty=f&p=A6NFN6_HUMAN&rb=1&re=749&var=S492C					YES	PRR12,missense_variant,p.Ser1312Cys,ENST00000418929,NM_020719.1;							MODERATE	3934/6111	S492C	PRR12_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000394510		CCDS46143.1			1	
NUP188	0	LGGM	GRCh37	9	131768606	131768606	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	45	3	.	.	ENST00000372577.2:c.5032C>A	p.Arg1678=	p.R1678=	ENST00000372577	NM_015354.2	1678	Cgg/Agg	0	1	1	UPI000041A60F	0		ENST00000372577		ENSG00000095319	17859		48			HGNC	p.R1678R	rs769770662	NUP188		SNV							ENST00000372577	protein_coding			hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1		R		A		5053/5689	1.50E-05						YES	NUP188,synonymous_variant,p.=,ENST00000372577,NM_015354.2;SH3GLB2,downstream_gene_variant,,ENST00000372564,NM_020145.2;SH3GLB2,downstream_gene_variant,,ENST00000372554,NM_001287045.1;SH3GLB2,downstream_gene_variant,,ENST00000417224,;SH3GLB2,downstream_gene_variant,,ENST00000416629,;SH3GLB2,downstream_gene_variant,,ENST00000372559,NM_001287046.1;RP11-167N5.5,upstream_gene_variant,,ENST00000594418,;SH3GLB2,downstream_gene_variant,,ENST00000461811,;NUP188,downstream_gene_variant,,ENST00000477069,;SH3GLB2,downstream_gene_variant,,ENST00000479237,;SH3GLB2,downstream_gene_variant,,ENST00000483980,;SH3GLB2,downstream_gene_variant,,ENST00000455407,;NUP188,downstream_gene_variant,,ENST00000487952,;							LOW	5032/5250		NU188_HUMAN			Transcript			.	ENSP00000361658	8.24E-06	CCDS35156.1			1	
FYCO1	0	LGGM	GRCh37	3	46008397	46008397	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	22	4	.	.	ENST00000296137.2:c.2429A>G	p.Gln810Arg	p.Q810R	ENST00000296137	NM_024513.3	810	cAg/cGg	0	1	1	UPI000013E307	0	NA	ENST00000296137		ENSG00000163820	14673		26	2.135		HGNC	p.Q810R		FYCO1		SNV			1				ENST00000296137	protein_coding	getma.org/?cm=var&var=hg19,3,46008397,T,C&fts=all		hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF12		Q/R		C	medium	2635/8504		getma.org/?cm=msa&ty=f&p=FYCO1_HUMAN&rb=800&re=999&var=Q810R	tolerated(0.15)	C9J2W6_HUMAN			YES	FYCO1,missense_variant,p.Gln810Arg,ENST00000296137,NM_024513.3;FYCO1,missense_variant,p.Gln810Arg,ENST00000535325,;							MODERATE	2429/4437	Q810R	FYCO1_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000296137		CCDS2734.1			1	
SCN2A	0	LGGM	GRCh37	2	166179848	166179848	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	20	4	.	.	ENST00000357398.3:c.1854A>T	p.Gly618=	p.G618=	ENST00000357398		618	ggA/ggT	0	1		UPI00001279C9	0		ENST00000283256		ENSG00000136531	10588		24			HGNC	p.G618G		SCN2A		SNV			1				ENST00000283256	protein_coding			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133		G		T		2010/8403				F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,synonymous_variant,p.=,ENST00000375437,NM_001040142.1;SCN2A,synonymous_variant,p.=,ENST00000357398,;SCN2A,synonymous_variant,p.=,ENST00000283256,NM_021007.2;SCN2A,synonymous_variant,p.=,ENST00000375427,NM_001040143.1;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;							LOW	1854/6018		SCN2A_HUMAN			Transcript			.	ENSP00000283256		CCDS33314.1			1	
ZACN	0	LGGM	GRCh37	17	74078080	74078080	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	16	4	.	.	ENST00000334586.5:c.998C>T	p.Pro333Leu	p.P333L	ENST00000334586	NM_180990.3	333	cCg/cTg	0	1	1	UPI0000E5A0B8	0	NA	ENST00000334586		ENSG00000186919	29504	9.52E-05	20	0.255		HGNC	p.P333L	rs749838124	ZACN	6.46E-05	SNV							ENST00000334586	protein_coding	getma.org/?cm=var&var=hg19,17,74078080,C,T&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF398,Superfamily_domains:SSF90112		P/L		T	neutral	1081/1335		getma.org/?cm=msa&ty=f&p=ZACN_HUMAN&rb=332&re=411&var=P333L	tolerated(0.28)				YES	ZACN,missense_variant,p.Pro333Leu,ENST00000334586,NM_180990.3;EXOC7,3_prime_UTR_variant,,ENST00000607838,NM_001145299.2,NM_001145297.2,NM_001145298.2;EXOC7,3_prime_UTR_variant,,ENST00000589210,NM_001013839.2;EXOC7,3_prime_UTR_variant,,ENST00000332065,NM_015219.3;EXOC7,downstream_gene_variant,,ENST00000335146,;EXOC7,downstream_gene_variant,,ENST00000467929,;EXOC7,downstream_gene_variant,,ENST00000405575,;EXOC7,downstream_gene_variant,,ENST00000411744,;EXOC7,downstream_gene_variant,,ENST00000357231,;GALR2,downstream_gene_variant,,ENST00000329003,NM_003857.2;ZACN,downstream_gene_variant,,ENST00000392503,;EXOC7,intron_variant,,ENST00000591724,;ZACN,3_prime_UTR_variant,,ENST00000425015,;ZACN,3_prime_UTR_variant,,ENST00000421794,;EXOC7,non_coding_transcript_exon_variant,,ENST00000465252,;ZACN,non_coding_transcript_exon_variant,,ENST00000590045,;EXOC7,downstream_gene_variant,,ENST00000467586,;EXOC7,downstream_gene_variant,,ENST00000592559,;ZACN,downstream_gene_variant,,ENST00000591500,;EXOC7,downstream_gene_variant,,ENST00000460476,;EXOC7,downstream_gene_variant,,ENST00000494787,;ZACN,downstream_gene_variant,,ENST00000524242,;							MODERATE	998/1239	P333L	ZACN_HUMAN			Transcript		benign(0.008)	.	ENSP00000334854	1.65E-05	CCDS11740.2			1	
UNC45B	0	LGGM	GRCh37	17	33495161	33495161	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	18	4	.	.	ENST00000268876.5:c.1233C>A	p.Asp411Glu	p.D411E	ENST00000268876	NM_173167.2	411	gaC/gaA	0	1	1	UPI0000074455	0	getma.org/pdb.php?prot=UN45B_HUMAN&from=271&to=489&var=D411E	ENST00000268876		ENSG00000141161	14304		22	1.32		HGNC	p.D411E	rs750331860	UNC45B	6.34E-05	SNV			1				ENST00000378449	protein_coding	getma.org/?cm=var&var=hg19,17,33495161,C,A&fts=all		hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Pfam_domain:PF11701,Superfamily_domains:SSF48371		D/E		A	low	1330/5679		getma.org/?cm=msa&ty=f&p=UN45B_HUMAN&rb=271&re=489&var=D411E	tolerated(0.34)				YES	UNC45B,missense_variant,p.Asp411Glu,ENST00000268876,NM_173167.2;UNC45B,missense_variant,p.Asp411Glu,ENST00000433649,NM_001033576.1,NM_001267052.1;UNC45B,missense_variant,p.Asp411Glu,ENST00000394570,;UNC45B,missense_variant,p.Asp411Glu,ENST00000378449,;UNC45B,missense_variant,p.Asp411Glu,ENST00000591048,;RP11-799D4.3,upstream_gene_variant,,ENST00000585646,;							MODERATE	1233/2796	D411E	UN45B_HUMAN			Transcript		benign(0.433)	.	ENSP00000268876	8.24E-06	CCDS11292.1			1	
TBX18	0	LGGM	GRCh37	6	85446902	85446902	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	29	4	.	.	ENST00000369663.5:c.1325C>G	p.Thr442Ser	p.T442S	ENST00000369663	NM_001080508.2	442	aCc/aGc	0	1	1	UPI00001A3A8A	0	NA	ENST00000369663		ENSG00000112837	11595		33	0.695		HGNC	p.T442S		TBX18		SNV							ENST00000369663	protein_coding	getma.org/?cm=var&var=hg19,6,85446902,G,C&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20		T/S		C	neutral	1663/6245		getma.org/?cm=msa&ty=f&p=TBX18_HUMAN&rb=332&re=531&var=T442S	tolerated(0.78)	U3KQQ9_HUMAN,U3KQ31_HUMAN			YES	TBX18,missense_variant,p.Thr442Ser,ENST00000369663,NM_001080508.2;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000606521,;TBX18,downstream_gene_variant,,ENST00000607343,;							MODERATE	1325/1824	T442S	TBX18_HUMAN			Transcript		benign(0.003)	.	ENSP00000358677		CCDS34495.1			1	
OC90	0	LGGM	GRCh37	8	133051320	133051320	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	52	4	.	.	ENST00000254627.3:c.508A>T	p.Ile170Leu	p.I170L	ENST00000254627	NM_001080399.2	170	Ata/Tta	0	1	1	UPI000192B908	0	getma.org/pdb.php?prot=OC90_HUMAN&from=72&to=191&var=I170L	ENST00000254627		ENSG00000253117	8100		56	1.95		HGNC	p.I170L		OC90		SNV							ENST00000254627	protein_coding	getma.org/?cm=var&var=hg19,8,133051320,T,A&fts=all		Gene3D:1.20.90.10,Pfam_domain:PF00068,hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF1,SMART_domains:SM00085,Superfamily_domains:SSF48619		I/L		A	medium	595/1782		getma.org/?cm=msa&ty=f&p=OC90_HUMAN&rb=72&re=191&var=I170L	deleterious(0.04)				YES	OC90,missense_variant,p.Ile366Leu,ENST00000262283,;OC90,missense_variant,p.Ile170Leu,ENST00000443356,;OC90,missense_variant,p.Ile170Leu,ENST00000254627,NM_001080399.2;OC90,missense_variant,p.Ile170Leu,ENST00000603859,;							MODERATE	508/1434	I170L	OC90_HUMAN			Transcript		benign(0.034)	.	ENSP00000254627		CCDS47919.1			1	
COG7	0	LGGM	GRCh37	16	23417405	23417405	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	53	4	.	.	ENST00000307149.5:c.1654A>T	p.Thr552Ser	p.T552S	ENST00000307149	NM_153603.3	552	Acc/Tcc	0	1	1	UPI0000127E42	0	NA	ENST00000307149		ENSG00000168434	18622		57	0.295		HGNC	p.T552S		COG7		SNV			1				ENST00000307149	protein_coding	getma.org/?cm=var&var=hg19,16,23417405,T,A&fts=all		Pfam_domain:PF10191,hmmpanther:PTHR21443		T/S		A	neutral	1840/2926		getma.org/?cm=msa&ty=f&p=COG7_HUMAN&rb=2&re=767&var=T552S	tolerated(0.37)				YES	COG7,missense_variant,p.Thr552Ser,ENST00000307149,NM_153603.3;COG7,non_coding_transcript_exon_variant,,ENST00000567821,;							MODERATE	1654/2313	T552S	COG7_HUMAN			Transcript		benign(0.026)	.	ENSP00000305442		CCDS10610.1			1	
MAPK8IP3	0	LGGM	GRCh37	16	1817178	1817178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	22	4	.	.	ENST00000250894.4:c.3114C>A	p.His1038Gln	p.H1038Q	ENST00000250894	NM_015133.3	1038	caC/caA	0	1	1	UPI000034ECA7	0	NA	ENST00000250894		ENSG00000138834	6884		26	1.67		HGNC	p.H1038Q		MAPK8IP3		SNV							ENST00000250894	protein_coding	getma.org/?cm=var&var=hg19,16,1817178,C,A&fts=all		hmmpanther:PTHR13886,hmmpanther:PTHR13886:SF3,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		H/Q		A	low	3271/5661		getma.org/?cm=msa&ty=f&p=JIP3_HUMAN&rb=987&re=1186&var=H1038Q	deleterious(0)				YES	MAPK8IP3,missense_variant,p.His1038Gln,ENST00000250894,NM_015133.3;MAPK8IP3,missense_variant,p.His1032Gln,ENST00000356010,NM_001040439.1;NME3,downstream_gene_variant,,ENST00000219302,NM_002513.2;MRPS34,downstream_gene_variant,,ENST00000177742,;MRPS34,downstream_gene_variant,,ENST00000397375,NM_023936.1;NME3,downstream_gene_variant,,ENST00000563498,;NME3,downstream_gene_variant,,ENST00000564628,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000564868,;MAPK8IP3,non_coding_transcript_exon_variant,,ENST00000562042,;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,;NME3,downstream_gene_variant,,ENST00000568561,;NME3,downstream_gene_variant,,ENST00000567271,;MRPS34,downstream_gene_variant,,ENST00000569585,;NME3,downstream_gene_variant,,ENST00000564252,;NME3,downstream_gene_variant,,ENST00000563854,;MAPK8IP3,upstream_gene_variant,,ENST00000566064,;MAPK8IP3,downstream_gene_variant,,ENST00000567352,;MAPK8IP3,downstream_gene_variant,,ENST00000561949,;MAPK8IP3,downstream_gene_variant,,ENST00000570131,;							MODERATE	3114/4011	H1038Q	JIP3_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000250894		CCDS10442.2			1	
COL6A1	0	LGGM	GRCh37	21	47423425	47423425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	14	4	.	.	ENST00000361866.3:c.2585C>A	p.Ala862Glu	p.A862E	ENST00000361866	NM_001848.2	862	gCg/gAg	0	1	1	UPI000019B179	0	getma.org/pdb.php?prot=CO6A1_HUMAN&from=829&to=1017&var=A862E	ENST00000361866		ENSG00000142156	2211		18	1.52		HGNC	p.A862E		COL6A1		SNV			1				ENST00000361866	protein_coding	getma.org/?cm=var&var=hg19,21,47423425,C,A&fts=all		Superfamily_domains:SSF53300,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234		A/E		A	low	2699/4238		getma.org/?cm=msa&ty=f&p=CO6A1_HUMAN&rb=829&re=1017&var=A862E	deleterious(0)	Q05BT9_HUMAN			YES	COL6A1,missense_variant,p.Ala862Glu,ENST00000361866,NM_001848.2;COL6A1,non_coding_transcript_exon_variant,,ENST00000498614,;COL6A1,non_coding_transcript_exon_variant,,ENST00000486023,;COL6A1,downstream_gene_variant,,ENST00000463060,;COL6A1,downstream_gene_variant,,ENST00000466285,;							MODERATE	2585/3087	A862E	CO6A1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000355180		CCDS13727.1			1	
SPOCK3	0	LGGM	GRCh37	4	167983799	167983799	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	21	4	.	.	ENST00000357154.3:c.199-111A>C		*67*	ENST00000357154	NM_016950.2			0	1	1	UPI000004BA60	0		ENST00000357154		ENSG00000196104	13565		25			HGNC	p.E64D		SPOCK3		SNV							ENST00000502741	protein_coding							G		-/2986				Q4W5S3_HUMAN,Q4W5E2_HUMAN,E7EMP8_HUMAN			YES	SPOCK3,missense_variant,p.Glu64Asp,ENST00000511531,;SPOCK3,missense_variant,p.Glu64Asp,ENST00000502330,;SPOCK3,missense_variant,p.Glu64Asp,ENST00000512042,;SPOCK3,intron_variant,,ENST00000357154,NM_016950.2;SPOCK3,intron_variant,,ENST00000506886,;SPOCK3,intron_variant,,ENST00000357545,NM_001204354.1,NM_001204352.1,NM_001040159.1;SPOCK3,intron_variant,,ENST00000504953,;SPOCK3,intron_variant,,ENST00000510741,NM_001204356.1;SPOCK3,intron_variant,,ENST00000511269,;SPOCK3,intron_variant,,ENST00000421836,;SPOCK3,intron_variant,,ENST00000541354,NM_001204353.1;SPOCK3,intron_variant,,ENST00000512681,NM_001251967.1;SPOCK3,intron_variant,,ENST00000512648,NM_001204358.1;SPOCK3,intron_variant,,ENST00000535728,;SPOCK3,intron_variant,,ENST00000534949,NM_001204355.1;SPOCK3,intron_variant,,ENST00000541637,;SPOCK3,intron_variant,,ENST00000510403,;SPOCK3,intron_variant,,ENST00000509854,;SPOCK3,intron_variant,,ENST00000506697,;SPOCK3,intron_variant,,ENST00000507137,;SPOCK3,missense_variant,p.Glu64Asp,ENST00000502741,;SPOCK3,intron_variant,,ENST00000502821,;SPOCK3,intron_variant,,ENST00000511905,;SPOCK3,intron_variant,,ENST00000505187,;SPOCK3,intron_variant,,ENST00000507370,;SPOCK3,intron_variant,,ENST00000507086,;SPOCK3,intron_variant,,ENST00000515143,;SPOCK3,intron_variant,,ENST00000511226,;SPOCK3,intron_variant,,ENST00000515316,;							MODIFIER	-/1311		TICN3_HUMAN			Transcript			.	ENSP00000349677		CCDS54817.1			1	
CAMTA1	0	LGGM	GRCh37	1	7804950	7804950	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	54	4	.	.	ENST00000303635.7:c.4238A>T	p.Lys1413Met	p.K1413M	ENST00000303635	NM_015215.2	1413	aAg/aTg	0	1	1	UPI00001C1D72	0	NA	ENST00000303635		ENSG00000171735	18806		58	2.525		HGNC	p.K1413M		CAMTA1		SNV			1				ENST00000303635	protein_coding	getma.org/?cm=var&var=hg19,1,7804950,A,T&fts=all		hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2		K/M		T	medium	4445/8444		getma.org/?cm=msa&ty=f&p=CMTA1_HUMAN&rb=1363&re=1562&var=K1413M	deleterious(0)				YES	CAMTA1,missense_variant,p.Lys1413Met,ENST00000303635,NM_015215.2;CAMTA1,missense_variant,p.Lys1413Met,ENST00000439411,;CAMTA1,missense_variant,p.Lys370Met,ENST00000495233,;CAMTA1,upstream_gene_variant,,ENST00000490905,;CAMTA1,upstream_gene_variant,,ENST00000476864,;							MODERATE	4238/5022	K1413M	CMTA1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000306522		CCDS30576.1			1	
RGL4	0	LGGM	GRCh37	22	24039418	24039418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	26	4	.	.	ENST00000290691.5:c.1222C>T	p.Pro408Ser	p.P408S	ENST00000290691	NM_153615.1	408	Ccg/Tcg	0	1	1	UPI00000740FE	0	getma.org/pdb.php?prot=RGDSR_HUMAN&from=216&to=423&var=P408S	ENST00000290691		ENSG00000159496	31911		30	1.945		HGNC	p.P408S		RGL4		SNV							ENST00000290691	protein_coding	getma.org/?cm=var&var=hg19,22,24039418,C,T&fts=all		PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF28,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591		P/S		T	medium	2392/2885		getma.org/?cm=msa&ty=f&p=RGDSR_HUMAN&rb=216&re=423&var=P408S	deleterious(0.05)	B5MCW5_HUMAN			YES	RGL4,missense_variant,p.Pro408Ser,ENST00000290691,NM_153615.1;RGL4,missense_variant,p.Pro272Ser,ENST00000401461,;RGL4,missense_variant,p.Pro408Ser,ENST00000423392,;RGL4,missense_variant,p.Pro90Ser,ENST00000452208,;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,,ENST00000417194,;GUSBP11,upstream_gene_variant,,ENST00000455485,;AP000347.2,downstream_gene_variant,,ENST00000432595,;RGL4,upstream_gene_variant,,ENST00000460167,;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,;							MODERATE	1222/1422	P408S	RGDSR_HUMAN			Transcript		benign(0.374)	.	ENSP00000290691		CCDS13811.1			1	
DISC1	0	LGGM	GRCh37	1	231935882	231935882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	42	5	.	.	ENST00000366633.3:c.1718C>A	p.Thr573Asn	p.T573N	ENST00000366633	NM_001164539.1	573	aCc/aAc	0	1		UPI0000458AE0	0	NA	ENST00000439617	not_provided	ENSG00000162946	2888		47	1.7		HGNC	p.T573N	rs367543092	DISC1	0.000121	SNV			1			1	ENST00000439617	protein_coding	getma.org/?cm=var&var=hg19,1,231935882,C,A&fts=all		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF2,Superfamily_domains:SSF46579		T/N		A	low	1771/7059		getma.org/?cm=msa&ty=f&p=DISC1_HUMAN&rb=401&re=600&var=T573N	deleterious(0.01)	C4P0C8_HUMAN,B1AM64_HUMAN				DISC1,missense_variant,p.Thr573Asn,ENST00000439617,NM_001164540.1,NM_018662.2,NM_001164537.1;DISC1,missense_variant,p.Thr573Asn,ENST00000535983,NM_001164538.1,NM_001164541.1;DISC1,missense_variant,p.Thr573Asn,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,missense_variant,p.Thr573Asn,ENST00000366633,NM_001164539.1;DISC1,missense_variant,p.Thr573Asn,ENST00000366636,NM_001012959.1;DISC1,5_prime_UTR_variant,,ENST00000366637,NM_001012957.1;DISC1,intron_variant,,ENST00000539444,NM_001164548.1,NM_001164545.1;DISC1,intron_variant,,ENST00000537876,NM_001164547.1,NM_001164546.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000535944,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,3_prime_UTR_variant,,ENST00000295051,;DISC1,3_prime_UTR_variant,,ENST00000602822,;DISC1,3_prime_UTR_variant,,ENST00000602713,;DISC1,3_prime_UTR_variant,,ENST00000366632,;TSNAX-DISC1,intron_variant,,ENST00000602567,;DISC1,intron_variant,,ENST00000602700,;							MODERATE	1718/2565	T573N				Transcript		probably_damaging(0.926)	.	ENSP00000403888	1.65E-05				1	
CUBN	0	LGGM	GRCh37	10	16970294	16970294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	23	5	.	.	ENST00000377833.4:c.6133A>T	p.Asn2045Tyr	p.N2045Y	ENST00000377833	NM_001081.3	2045	Aac/Tac	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=1978&to=2088&var=N2045Y	ENST00000377833		ENSG00000107611	2548		28	1.47		HGNC	p.N2045Y		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,16970294,T,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		N/Y		A	low	6199/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1978&re=2088&var=N2045Y	tolerated(0.09)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Asn2045Tyr,ENST00000377833,NM_001081.3;							MODERATE	6133/10872	N2045Y	CUBN_HUMAN			Transcript		benign(0.033)	.	ENSP00000367064		CCDS7113.1			1	
NOM1	0	LGGM	GRCh37	7	156762267	156762267	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	62	5	.	.	ENST00000275820.3:c.2453A>G	p.Lys818Arg	p.K818R	ENST00000275820	NM_138400.1	818	aAg/aGg	0	1	1	UPI000020E71F	0	NA	ENST00000275820		ENSG00000146909	13244		67	0.645		HGNC	p.K818R		NOM1		SNV							ENST00000275820	protein_coding	getma.org/?cm=var&var=hg19,7,156762267,A,G&fts=all		hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034		K/R		G	neutral	2468/6077		getma.org/?cm=msa&ty=f&p=NOM1_HUMAN&rb=762&re=860&var=K818R	tolerated(0.29)				YES	NOM1,missense_variant,p.Lys818Arg,ENST00000275820,NM_138400.1;NOM1,non_coding_transcript_exon_variant,,ENST00000486131,;NOM1,downstream_gene_variant,,ENST00000485661,;							MODERATE	2453/2583	K818R	NOM1_HUMAN			Transcript		benign(0.134)	.	ENSP00000275820		CCDS34787.1			1	
GPR152	0	LGGM	GRCh37	11	67219361	67219361	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	8	5	.	.	ENST00000312457.2:c.835T>A	p.Tyr279Asn	p.Y279N	ENST00000312457	NM_206997.1	279	Tac/Aac	0	1	1	UPI000003B364	0	NA	ENST00000312457		ENSG00000175514	23622		13	0.69		HGNC	p.Y279N		GPR152		SNV							ENST00000312457	protein_coding	getma.org/?cm=var&var=hg19,11,67219361,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF1,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/N		T	neutral	840/1429		getma.org/?cm=msa&ty=f&p=GP152_HUMAN&rb=46&re=295&var=Y279N	tolerated(0.19)				YES	GPR152,missense_variant,p.Tyr279Asn,ENST00000312457,NM_206997.1;CABP4,upstream_gene_variant,,ENST00000438189,;CABP4,upstream_gene_variant,,ENST00000325656,NM_145200.3;CABP4,upstream_gene_variant,,ENST00000542025,;CABP4,upstream_gene_variant,,ENST00000538060,;CABP4,upstream_gene_variant,,ENST00000542233,;CABP4,upstream_gene_variant,,ENST00000545040,;CABP4,upstream_gene_variant,,ENST00000545777,;							MODERATE	835/1413	Y279N	GP152_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310255		CCDS8165.1			1	
ANKFY1	0	LGGM	GRCh37	17	4071095	4071095	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	13	5	.	.	ENST00000570535.1:c.3614T>C	p.Leu1205Pro	p.L1205P	ENST00000570535	NM_001257999.1	1205	cTg/cCg	0	1		UPI0000038C5D	0	getma.org/pdb.php?prot=ANFY1_HUMAN&from=1102&to=1165&var=L1163P	ENST00000341657		ENSG00000185722	20763		18	4.305		HGNC	p.L1164P		ANKFY1		SNV							ENST00000574367	protein_coding	getma.org/?cm=var&var=hg19,17,4071095,A,G&fts=all		Superfamily_domains:SSF57903,SMART_domains:SM00064,Gene3D:3.30.40.10,Pfam_domain:PF01363,hmmpanther:PTHR24189,PROSITE_profiles:PS50178		L/P		G	high	3524/7418		getma.org/?cm=msa&ty=f&p=ANFY1_HUMAN&rb=1102&re=1165&var=L1163P	deleterious(0)	I3L1Z9_HUMAN				ANKFY1,missense_variant,p.Leu1163Pro,ENST00000341657,NM_016376.3;ANKFY1,missense_variant,p.Leu1205Pro,ENST00000570535,NM_001257999.1;ANKFY1,missense_variant,p.Leu1164Pro,ENST00000574367,;CYB5D2,intron_variant,,ENST00000573984,;RP11-810M2.2,downstream_gene_variant,,ENST00000573371,;ANKFY1,downstream_gene_variant,,ENST00000572412,;ANKFY1,downstream_gene_variant,,ENST00000575298,;							MODERATE	3488/3510	L1163P	ANFY1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343362					1	
TANC2	0	LGGM	GRCh37	17	61497581	61497581	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	25	5	.	.	ENST00000424789.2:c.4238A>T	p.Glu1413Val	p.E1413V	ENST00000424789	NM_025185.3	1413	gAg/gTg	0	1	1	UPI00015D57DF	0	NA	ENST00000424789		ENSG00000170921	30212		30	0.55		HGNC	p.E1413V		TANC2		SNV							ENST00000424789	protein_coding	getma.org/?cm=var&var=hg19,17,61497581,A,T&fts=all		hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166		E/V		T	neutral	4242/11721		getma.org/?cm=msa&ty=f&p=TANC2_HUMAN&rb=1362&re=1988&var=E1413V	deleterious_low_confidence(0.01)				YES	TANC2,missense_variant,p.Glu1413Val,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Glu1423Val,ENST00000389520,;TANC2,3_prime_UTR_variant,,ENST00000583356,;RP11-269G24.3,intron_variant,,ENST00000583552,;TANC2,downstream_gene_variant,,ENST00000579541,;							MODERATE	4238/5973	E1413V	TANC2_HUMAN			Transcript		benign(0.261)	.	ENSP00000387593		CCDS45754.1			1	
C6orf222	0	LGGM	GRCh37	6	36298347	36298347	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	27	5	.	.	ENST00000437635.2:c.121A>T	p.Thr41Ser	p.T41S	ENST00000437635	NM_001010903.4	41	Act/Tct	0	1	1	UPI000022CB9B	0	NA	ENST00000437635		ENSG00000189325	33769		32	0.805		HGNC	p.T41S		C6orf222		SNV							ENST00000437635	protein_coding	getma.org/?cm=var&var=hg19,6,36298347,T,A&fts=all		hmmpanther:PTHR22435,hmmpanther:PTHR22435:SF0		T/S		A	low	299/3736		getma.org/?cm=msa&ty=f&p=CF222_HUMAN&rb=1&re=97&var=T41S	tolerated(0.33)				YES	C6orf222,missense_variant,p.Thr41Ser,ENST00000437635,NM_001010903.4;							MODERATE	121/1959	T41S	CF222_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000418983		CCDS34439.1			1	
PTPRF	0	LGGM	GRCh37	1	44085788	44085788	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	35	5	.	.	ENST00000359947.4:c.5134A>T	p.Thr1712Ser	p.T1712S	ENST00000359947	NM_002840.3	1712	Aca/Tca	0	1	1	UPI0000470154	0	getma.org/pdb.php?prot=PTPRF_HUMAN&from=1664&to=1897&var=T1712S	ENST00000359947		ENSG00000142949	9670		40	1.98		HGNC	p.T1703S		PTPRF		SNV			1				ENST00000438120	protein_coding	getma.org/?cm=var&var=hg19,1,44085788,A,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,Superfamily_domains:SSF52799		T/S		T	medium	5474/7727		getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=1664&re=1897&var=T1712S	deleterious(0.03)	G1UI20_HUMAN			YES	PTPRF,missense_variant,p.Thr1712Ser,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Thr1712Ser,ENST00000372414,;PTPRF,missense_variant,p.Thr1703Ser,ENST00000372413,;PTPRF,missense_variant,p.Thr1703Ser,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Thr1358Ser,ENST00000429895,;PTPRF,missense_variant,p.Thr1071Ser,ENST00000422171,;PTPRF,missense_variant,p.Thr1137Ser,ENST00000414879,;PTPRF,missense_variant,p.Thr784Ser,ENST00000372407,;PTPRF,missense_variant,p.Thr1096Ser,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,non_coding_transcript_exon_variant,,ENST00000477970,;							MODERATE	5134/5724	T1712S	PTPRF_HUMAN			Transcript		benign(0.365)	.	ENSP00000353030		CCDS489.2			1	
USP17L22	0	LGGM	GRCh37	4	9270248	9270248	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	28	5	.	.	ENST00000511280.1:c.904G>A	p.Asp302Asn	p.D302N	ENST00000511280	NM_001256863.1	302	Gac/Aac	0	1	1	UPI0000185F06	0	getma.org/pdb.php?prot=U17L7_HUMAN&from=78&to=372&var=D302N	ENST00000511280		ENSG00000248933	44450		33	1.075		HGNC	p.D302N		USP17L22		SNV							ENST00000511280	protein_coding	getma.org/?cm=var&var=hg19,4,9270248,G,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF382,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		D/N		A	low	904/1593		getma.org/?cm=msa&ty=f&p=U17L7_HUMAN&rb=78&re=372&var=D302N	deleterious(0.04)				YES	USP17L22,missense_variant,p.Asp302Asn,ENST00000511280,NM_001256863.1;USP17L21,downstream_gene_variant,,ENST00000506414,NM_001256862.1;USP17L23,upstream_gene_variant,,ENST00000506619,;							MODERATE	904/1593	D302N	U17LM_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000423115		CCDS59463.1			1	
PAMR1	0	LGGM	GRCh37	11	35456329	35456329	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	27	5	.	.	ENST00000278360.3:c.1408A>T	p.Thr470Ser	p.T470S	ENST00000278360	NM_015430.2	470	Act/Tct	0	1	1	UPI000013DB70	0	NA	ENST00000278360		ENSG00000149090	24554		32	0.805		HGNC	p.T470S		PAMR1		SNV							ENST00000278360	protein_coding	getma.org/?cm=var&var=hg19,11,35456329,T,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF7,SMART_domains:SM00020,Superfamily_domains:SSF50494		T/S		A	low	1446/2786		getma.org/?cm=msa&ty=f&p=PAMR1_HUMAN&rb=452&re=715&var=T453S	tolerated(0.77)	E9PQ70_HUMAN			YES	PAMR1,missense_variant,p.Thr453Ser,ENST00000378880,NM_001001991.1;PAMR1,missense_variant,p.Thr413Ser,ENST00000532848,NM_001282675.1;PAMR1,missense_variant,p.Thr470Ser,ENST00000278360,NM_015430.2;PAMR1,missense_variant,p.Thr430Ser,ENST00000527605,;PAMR1,missense_variant,p.Thr342Ser,ENST00000378878,NM_001282676.1;PAMR1,non_coding_transcript_exon_variant,,ENST00000531219,;							MODERATE	1408/2214	T453S	PAMR1_HUMAN			Transcript		benign(0.008)	.	ENSP00000278360		CCDS7898.1			1	
HIPK1	0	LGGM	GRCh37	1	114510386	114510386	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	38	6	.	.	ENST00000369558.1:c.2382-2A>T		p.X794_splice	ENST00000369558				0	1	1	UPI000000D74E	0		ENST00000369558		ENSG00000163349	19006		44			HGNC	-		HIPK1		SNV							ENST00000426820	protein_coding							T		-/8157				D6RF28_HUMAN,D6RC95_HUMAN			YES	HIPK1,splice_acceptor_variant,,ENST00000369558,;HIPK1,splice_acceptor_variant,,ENST00000369554,NM_198268.2;HIPK1,splice_acceptor_variant,,ENST00000340480,NM_198269.2;HIPK1,splice_acceptor_variant,,ENST00000406344,;HIPK1,splice_acceptor_variant,,ENST00000361587,;HIPK1,splice_acceptor_variant,,ENST00000426820,;HIPK1,splice_acceptor_variant,,ENST00000369555,;HIPK1,splice_acceptor_variant,,ENST00000369561,;HIPK1,splice_acceptor_variant,,ENST00000369559,NM_152696.3;HIPK1,splice_acceptor_variant,,ENST00000369553,NM_181358.2;							HIGH	2382/3633		HIPK1_HUMAN			Transcript			.	ENSP00000358571		CCDS867.1			1	
TMCC1	0	LGGM	GRCh37	3	129390090	129390090	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	19	6	.	.	ENST00000393238.3:c.594A>T	p.Val198=	p.V198=	ENST00000393238	NM_001017395.3	198	gtA/gtT	0	1	1	UPI0000197B80	0		ENST00000393238		ENSG00000172765	29116		25			HGNC	p.V19V		TMCC1		SNV							ENST00000329333	protein_coding			hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11		V		A		935/5992				Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN			YES	TMCC1,synonymous_variant,p.=,ENST00000393238,NM_001017395.3;TMCC1,synonymous_variant,p.=,ENST00000426664,NM_001128224.2;TMCC1,synonymous_variant,p.=,ENST00000329333,;TMCC1,5_prime_UTR_variant,,ENST00000432054,;TMCC1,downstream_gene_variant,,ENST00000505616,;							LOW	594/1962		TMCC1_HUMAN			Transcript			.	ENSP00000376930		CCDS33855.1			1	
EPHA4	0	LGGM	GRCh37	2	222301267	222301267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	54	6	.	.	ENST00000281821.2:c.2198G>A	p.Gly733Glu	p.G733E	ENST00000281821	NM_004438.3	733	gGg/gAg	0	1	1	UPI000012A077	0	getma.org/pdb.php?prot=EPHA4_HUMAN&from=621&to=878&var=G733E	ENST00000281821		ENSG00000116106	3388		60	4.5		HGNC	p.G682E		EPHA4		SNV							ENST00000392071	protein_coding	getma.org/?cm=var&var=hg19,2,222301267,C,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF25,SMART_domains:SM00219,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/E		T	high	2240/6346		getma.org/?cm=msa&ty=f&p=EPHA4_HUMAN&rb=621&re=878&var=G733E	deleterious(0)	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN			YES	EPHA4,missense_variant,p.Gly733Glu,ENST00000281821,NM_004438.3;EPHA4,missense_variant,p.Gly733Glu,ENST00000409854,;EPHA4,missense_variant,p.Gly733Glu,ENST00000409938,;EPHA4,missense_variant,p.Gly682Glu,ENST00000392071,;EPHA4,non_coding_transcript_exon_variant,,ENST00000495693,;EPHA4,upstream_gene_variant,,ENST00000424339,;							MODERATE	2198/2961	G733E	EPHA4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000281821		CCDS2447.1			1	
CHD3	0	LGGM	GRCh37	17	7807250	7807250	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	18	6	.	.	ENST00000380358.4:c.4012A>T	p.Met1338Leu	p.M1338L	ENST00000380358	NM_001005271.2	1338	Atg/Ttg	0	1		UPI00001AED64	0	NA	ENST00000330494		ENSG00000170004	1918		24	0.235		HGNC	p.M29L		CHD3		SNV							ENST00000470531	protein_coding	getma.org/?cm=var&var=hg19,17,7807250,A,T&fts=all		hmmpanther:PTHR10799:SF544,hmmpanther:PTHR10799		M/L		T	neutral	3985/7328		getma.org/?cm=msa&ty=f&p=CHD3_HUMAN&rb=1175&re=1292&var=M1279L	tolerated(0.09)	Q2TAZ1_HUMAN				CHD3,missense_variant,p.Met1338Leu,ENST00000380358,NM_001005271.2;CHD3,missense_variant,p.Met1279Leu,ENST00000330494,NM_001005273.2;CHD3,missense_variant,p.Met1279Leu,ENST00000358181,NM_005852.3;CHD3,upstream_gene_variant,,ENST00000439235,;CHD3,upstream_gene_variant,,ENST00000449744,;CHD3,upstream_gene_variant,,ENST00000573936,;SCARNA21,upstream_gene_variant,,ENST00000517026,;CHD3,missense_variant,p.Met29Leu,ENST00000470531,;CHD3,upstream_gene_variant,,ENST00000572750,;CHD3,upstream_gene_variant,,ENST00000466233,;CHD3,upstream_gene_variant,,ENST00000473376,;							MODERATE	3835/6003	M1279L	CHD3_HUMAN			Transcript		benign(0.008)	.	ENSP00000332628		CCDS32554.1			1	
AKR1CL1	0	LGGM	GRCh37	10	5204970	5204970	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	40	6	.	.	ENST00000488756.1:c.107A>T	p.Gln36Leu	p.Q36L	ENST00000488756		36	cAg/cTg	0	1	1	UPI0001B790F0	0		ENST00000488756		ENSG00000196326	23469		46			HGNC	p.Q36L		AKR1CL1		SNV							ENST00000488756	protein_coding			Gene3D:3.20.20.100,Pfam_domain:PF00248,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF166,Superfamily_domains:SSF51430		Q/L		A		136/485			tolerated(0.13)	C9J5T8_HUMAN			YES	AKR1CL1,missense_variant,p.Gln36Leu,ENST00000334314,;AKR1CL1,missense_variant,p.Gln36Leu,ENST00000488756,;AKR1CL1,upstream_gene_variant,,ENST00000473890,;AKR1CL1,non_coding_transcript_exon_variant,,ENST00000472691,;AKR1CL1,upstream_gene_variant,,ENST00000465430,;							MODERATE	107/456					Transcript		benign(0.051)	.	ENSP00000417935					1	
NLRP1	0	LGGM	GRCh37	17	5434012	5434012	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	25	6	.	.	ENST00000572272.1:c.3309T>C	p.Pro1103=	p.P1103=	ENST00000572272		1103	ccT/ccC	0	1	1	UPI0000038309	0		ENST00000572272		ENSG00000091592	14374		31			HGNC	p.P1073P		NLRP1		SNV			1				ENST00000577119	protein_coding			Pfam_domain:PF13553,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13		P		G		3309/4422				I3L2G5_HUMAN,I3L0S2_HUMAN			YES	NLRP1,synonymous_variant,p.=,ENST00000345221,NM_033004.3,NM_014922.4,NM_033007.3;NLRP1,synonymous_variant,p.=,ENST00000262467,NM_001033053.2;NLRP1,synonymous_variant,p.=,ENST00000269280,;NLRP1,synonymous_variant,p.=,ENST00000572272,;NLRP1,synonymous_variant,p.=,ENST00000354411,NM_033006.3;NLRP1,synonymous_variant,p.=,ENST00000577119,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,synonymous_variant,p.=,ENST00000544378,;NLRP1,3_prime_UTR_variant,,ENST00000571451,;							LOW	3309/4422		NALP1_HUMAN			Transcript			.	ENSP00000460475		CCDS42246.1			1	
VANGL2	0	LGGM	GRCh37	1	160393853	160393853	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	17	6	.	.	ENST00000368061.2:c.1085C>T	p.Ala362Val	p.A362V	ENST00000368061	NM_020335.2	362	gCg/gTg	0	1	1	UPI00001C1D79	0	NA	ENST00000368061		ENSG00000162738	15511		23	2.95		HGNC	p.A362V		VANGL2		SNV			1				ENST00000368061	protein_coding	getma.org/?cm=var&var=hg19,1,160393853,C,T&fts=all		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10,Low_complexity_(Seg):seg		A/V		T	medium	1559/5340		getma.org/?cm=msa&ty=f&p=VANG2_HUMAN&rb=21&re=521&var=A362V	deleterious(0.04)				YES	VANGL2,missense_variant,p.Ala362Val,ENST00000368061,NM_020335.2;VANGL2,non_coding_transcript_exon_variant,,ENST00000483408,;							MODERATE	1085/1566	A362V	VANG2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000357040		CCDS30915.1			1	
ADAM23	0	LGGM	GRCh37	2	207436508	207436508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	31	6	.	.	ENST00000264377.3:c.1624G>A	p.Asp542Asn	p.D542N	ENST00000264377	NM_003812.3	542	Gac/Aac	0	1	1	UPI0000044543	0	getma.org/pdb.php?prot=ADA23_HUMAN&from=511&to=586&var=D542N	ENST00000264377		ENSG00000114948	202		37	0.14		HGNC	p.D542N	rs377327401,COSM4090576,COSM4090577,COSM4090578	ADAM23		SNV	A:0.0002			0.000192		0,1,1,1	ENST00000374416	protein_coding	getma.org/?cm=var&var=hg19,2,207436508,G,A&fts=all		Superfamily_domains:SSF57552,SMART_domains:SM00050,Pfam_domain:PF00200,Gene3D:4.10.70.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50214		D/N	A:0	A	neutral	1952/6327	1.50E-05	getma.org/?cm=msa&ty=f&p=ADA23_HUMAN&rb=511&re=586&var=D542N	tolerated(0.47)	Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN			YES	ADAM23,missense_variant,p.Asp542Asn,ENST00000264377,NM_003812.3;ADAM23,missense_variant,p.Asp542Asn,ENST00000374416,;ADAM23,missense_variant,p.Asp542Asn,ENST00000374415,;					0,1,1,1		MODERATE	1624/2499	D542N	ADA23_HUMAN			Transcript		benign(0.218)	.	ENSP00000264377	2.47E-05	CCDS2369.1			1	
NEDD4L	0	LGGM	GRCh37	18	55919276	55919276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	32	6	.	.	ENST00000400345.3:c.287A>G	p.Glu96Gly	p.E96G	ENST00000400345	NM_001144967.2	96	gAa/gGa	0	1	1	UPI000058E3AE	0	getma.org/pdb.php?prot=NED4L_HUMAN&from=22&to=109&var=E96G	ENST00000400345		ENSG00000049759	7728		38	2.47		HGNC	p.E96G		NEDD4L		SNV							ENST00000400345	protein_coding	getma.org/?cm=var&var=hg19,18,55919276,A,G&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50004,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310,SMART_domains:SM00239,Superfamily_domains:SSF49562		E/G		G	medium	570/3647		getma.org/?cm=msa&ty=f&p=NED4L_HUMAN&rb=22&re=109&var=E96G	deleterious(0)	K7ENS6_HUMAN,K7EN51_HUMAN			YES	NEDD4L,missense_variant,p.Glu96Gly,ENST00000382850,NM_015277.5;NEDD4L,missense_variant,p.Glu96Gly,ENST00000400345,NM_001144967.2;NEDD4L,missense_variant,p.Glu88Gly,ENST00000357895,NM_001144968.1,NM_001144965.1;NEDD4L,missense_variant,p.Glu88Gly,ENST00000586263,NM_001144969.1;NEDD4L,missense_variant,p.Glu96Gly,ENST00000356462,NM_001243960.1;NEDD4L,missense_variant,p.Glu96Gly,ENST00000256830,;NEDD4L,5_prime_UTR_variant,,ENST00000456986,NM_001144964.1;NEDD4L,5_prime_UTR_variant,,ENST00000256832,;NEDD4L,5_prime_UTR_variant,,ENST00000456173,NM_001144970.2;NEDD4L,5_prime_UTR_variant,,ENST00000435432,NM_001144971.1;NEDD4L,5_prime_UTR_variant,,ENST00000431212,NM_001144966.2;NEDD4L,5_prime_UTR_variant,,ENST00000586268,;NEDD4L,5_prime_UTR_variant,,ENST00000587190,;NEDD4L,5_prime_UTR_variant,,ENST00000588494,;NEDD4L,5_prime_UTR_variant,,ENST00000592846,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000587634,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000588066,;NEDD4L,non_coding_transcript_exon_variant,,ENST00000585323,;							MODERATE	287/2928	E96G	NED4L_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000383199		CCDS45872.1			1	
EVPL	0	LGGM	GRCh37	17	74004196	74004196	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	21	6	.	.	ENST00000301607.3:c.5090T>A	p.Met1697Lys	p.M1697K	ENST00000301607	NM_001988.2	1697	aTg/aAg	0	1	1	UPI000013E730	0	NA	ENST00000301607		ENSG00000167880	3503		27	2.415		HGNC	p.M1719K		EVPL		SNV							ENST00000586740	protein_coding	getma.org/?cm=var&var=hg19,17,74004196,A,T&fts=all		hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7,Pfam_domain:PF00681,Gene3D:3.90.1290.10,SMART_domains:SM00250,Superfamily_domains:SSF75399		M/K		T	medium	5344/6614		getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=1679&re=1720&var=M1697K	deleterious(0)	K7EQ87_HUMAN			YES	EVPL,missense_variant,p.Met1697Lys,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Met1719Lys,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,;							MODERATE	5090/6102	M1697K	EVPL_HUMAN			Transcript		possibly_damaging(0.75)	.	ENSP00000301607		CCDS11737.1			1	
CHMP4C	0	LGGM	GRCh37	8	82665467	82665467	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	44	6	.	.	ENST00000297265.4:c.359A>G	p.His120Arg	p.H120R	ENST00000297265	NM_152284.3	120	cAt/cGt	0	1	1	UPI000005032A	0	NA	ENST00000297265		ENSG00000164695	30599		50	2.905		HGNC	p.H120R		CHMP4C		SNV							ENST00000297265	protein_coding	getma.org/?cm=var&var=hg19,8,82665467,A,G&fts=all		Pfam_domain:PF03357,hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF13		H/R		G	medium	552/1866		getma.org/?cm=msa&ty=f&p=CHM4C_HUMAN&rb=24&re=193&var=H120R	deleterious(0)				YES	CHMP4C,missense_variant,p.His120Arg,ENST00000297265,NM_152284.3;							MODERATE	359/702	H120R	CHM4C_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000297265		CCDS6233.1			1	
BTNL3	0	LGGM	GRCh37	5	180424448	180424448	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	32	6	.	.	ENST00000342868.6:c.633T>A	p.Ala211=	p.A211=	ENST00000342868	NM_197975.2	211	gcT/gcA	0	1	1	UPI00001D69EF	0		ENST00000342868		ENSG00000168903	1143		38			HGNC	p.A211A		BTNL3		SNV							ENST00000342868	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13		A		A		817/2440							YES	BTNL3,synonymous_variant,p.=,ENST00000342868,NM_197975.2;							LOW	633/1401		BTNL3_HUMAN			Transcript			.	ENSP00000341787		CCDS47358.1			1	
SHROOM2	0	LGGM	GRCh37	X	9862600	9862600	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	6	7	.	.	ENST00000380913.3:c.652A>T	p.Ser218Cys	p.S218C	ENST00000380913	NM_001649.2	218	Agc/Tgc	0	1	1	UPI0000125D05	0	NA	ENST00000380913		ENSG00000146950	630		13	2.62		HGNC	p.S218C		SHROOM2		SNV							ENST00000380913	protein_coding	getma.org/?cm=var&var=hg19,X,9862600,A,T&fts=all		hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8,Low_complexity_(Seg):seg		S/C		T	medium	742/7447		getma.org/?cm=msa&ty=f&p=SHRM2_HUMAN&rb=106&re=230&var=S218C	deleterious(0)	F5H3B6_HUMAN,C9IZC6_HUMAN			YES	SHROOM2,missense_variant,p.Ser218Cys,ENST00000380913,NM_001649.2;SHROOM2,upstream_gene_variant,,ENST00000493668,;							MODERATE	652/4851	S218C	SHRM2_HUMAN			Transcript		benign(0.184)	.	ENSP00000370299		CCDS14135.1			1	
ERBB4	0	LGGM	GRCh37	2	212989565	212989565	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	23	7	.	.	ENST00000342788.4:c.146T>A	p.Leu49Ter	p.L49*	ENST00000342788	NM_005235.2	49	tTg/tAg	0	1	1	UPI00000499DF	0	NA	ENST00000342788		ENSG00000178568	3432		30	0		HGNC	p.L49X		ERBB4		SNV			1				ENST00000342788	protein_coding	getma.org/?cm=var&var=hg19,2,212989565,A,T&fts=all		Gene3D:3.80.20.20,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,Superfamily_domains:SSF52058		L/*		T	NA	457/12132		NA		Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,stop_gained,p.Leu49Ter,ENST00000342788,NM_005235.2;ERBB4,stop_gained,p.Leu49Ter,ENST00000436443,NM_001042599.1;ERBB4,stop_gained,p.Leu49Ter,ENST00000402597,;ERBB4,stop_gained,p.Leu49Ter,ENST00000260943,;ERBB4,5_prime_UTR_variant,,ENST00000435846,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;ERBB4,non_coding_transcript_exon_variant,,ENST00000459774,;							HIGH	146/3927	L49*	ERBB4_HUMAN			Transcript			.	ENSP00000342235		CCDS2394.1			1	
CPSF2	0	LGGM	GRCh37	14	92604678	92604678	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	120	7	.	.	ENST00000298875.4:c.648T>C	p.Asp216=	p.D216=	ENST00000298875	NM_017437.2	216	gaT/gaC	0	1	1	UPI0000185F22	0		ENST00000298875		ENSG00000165934	2325		127			HGNC	p.D216D		CPSF2		SNV							ENST00000298875	protein_coding			hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,SMART_domains:SM00849,Superfamily_domains:SSF56281		D		C		933/5301				G3V3T7_HUMAN,B3KN45_HUMAN			YES	CPSF2,synonymous_variant,p.=,ENST00000298875,NM_017437.2;CPSF2,downstream_gene_variant,,ENST00000553427,;CPSF2,downstream_gene_variant,,ENST00000554290,;							LOW	648/2349		CPSF2_HUMAN			Transcript			.	ENSP00000298875		CCDS9902.1			1	
ZNF354A	0	LGGM	GRCh37	5	178140198	178140198	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	49	7	.	.	ENST00000335815.2:c.681A>T	p.Ser227=	p.S227=	ENST00000335815	NM_005649.2	227	tcA/tcT	0	1	1	UPI000013EB5E	0		ENST00000335815		ENSG00000169131	11628		56			HGNC	p.S227S		ZNF354A		SNV							ENST00000335815	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF146,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		A		879/2484				E5RHT5_HUMAN			YES	ZNF354A,synonymous_variant,p.=,ENST00000335815,NM_005649.2;ZNF354A,downstream_gene_variant,,ENST00000520331,;							LOW	681/1818		Z354A_HUMAN			Transcript			.	ENSP00000337122		CCDS4438.1			1	
SIAH1	0	LGGM	GRCh37	16	48395902	48395902	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	31	7	.	.	ENST00000356721.3:c.531C>T	p.Pro177=	p.P177=	ENST00000356721	NM_001006610.1	177	ccC/ccT	0	1		UPI0000073CF6	0		ENST00000380006		ENSG00000196470	10857		38			HGNC	p.P146P		SIAH1		SNV							ENST00000380006	protein_coding			PROSITE_profiles:PS51081,hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23,Gene3D:1k2fA02,Pfam_domain:PF03145,Superfamily_domains:SSF49599		P		A		1892/3352				H3BU09_HUMAN				SIAH1,synonymous_variant,p.=,ENST00000380006,;SIAH1,synonymous_variant,p.=,ENST00000356721,NM_001006610.1;SIAH1,synonymous_variant,p.=,ENST00000394725,NM_003031.3;LONP2,3_prime_UTR_variant,,ENST00000565867,;LONP2,downstream_gene_variant,,ENST00000285737,NM_031490.2;SIAH1,downstream_gene_variant,,ENST00000563745,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,downstream_gene_variant,,ENST00000573005,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,synonymous_variant,p.=,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,non_coding_transcript_exon_variant,,ENST00000565185,;							LOW	438/849		SIAH1_HUMAN			Transcript			.	ENSP00000369343		CCDS10735.1			1	
DNAH10	0	LGGM	GRCh37	12	124330685	124330685	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	50	7	.	.	ENST00000409039.3:c.5444A>T	p.Tyr1815Phe	p.Y1815F	ENST00000409039	NM_207437.3	1815	tAc/tTc	0	1	1	UPI00014F7B89	0	getma.org/pdb.php?prot=DYH10_HUMAN&from=1794&to=2024&var=Y1815F	ENST00000409039		ENSG00000197653	2941		57	1.295		HGNC	p.Y298F		DNAH10		SNV							ENST00000497783	protein_coding	getma.org/?cm=var&var=hg19,12,124330685,A,T&fts=all		Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135,Superfamily_domains:SSF52540		Y/F		T	low	5469/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=1794&re=2024&var=Y1815F					YES	DNAH10,missense_variant,p.Tyr1815Phe,ENST00000409039,NM_207437.3;DNAH10,missense_variant,p.Tyr298Phe,ENST00000497783,;							MODERATE	5444/13416	Y1815F	DYH10_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000386770		CCDS9255.2			1	
YBX3	0	LGGM	GRCh37	12	10865839	10865839	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	61	7	.	.	ENST00000228251.4:c.544T>C	p.Tyr182His	p.Y182H	ENST00000228251	NM_003651.4	182	Tat/Cat	0	1	1	UPI000013DBD6	0	NA	ENST00000228251		ENSG00000060138	2428		68	2.685		HGNC	p.Y182H		YBX3		SNV							ENST00000228251	protein_coding	getma.org/?cm=var&var=hg19,12,10865839,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11544:SF14,hmmpanther:PTHR11544		Y/H		G	medium	745/1796		getma.org/?cm=msa&ty=f&p=DBPA_HUMAN&rb=161&re=360&var=Y182H	tolerated(0.21)				YES	YBX3,missense_variant,p.Tyr182His,ENST00000228251,NM_003651.4;YBX3,missense_variant,p.Tyr182His,ENST00000279550,NM_001145426.1;YBX3,non_coding_transcript_exon_variant,,ENST00000544622,;YBX3,non_coding_transcript_exon_variant,,ENST00000539204,;YBX3,non_coding_transcript_exon_variant,,ENST00000546298,;YBX3,upstream_gene_variant,,ENST00000546164,;YBX3,upstream_gene_variant,,ENST00000544504,;YBX3,downstream_gene_variant,,ENST00000540747,;YBX3,downstream_gene_variant,,ENST00000544501,;YBX3,non_coding_transcript_exon_variant,,ENST00000540447,;YBX3,non_coding_transcript_exon_variant,,ENST00000542002,;YBX3,non_coding_transcript_exon_variant,,ENST00000542641,;YBX3,upstream_gene_variant,,ENST00000541351,;YBX3,downstream_gene_variant,,ENST00000536107,;							MODERATE	544/1119	Y182H	YBOX3_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000228251		CCDS8630.1			1	
LRP2	0	LGGM	GRCh37	2	170113702	170113702	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	32	7	.	.	ENST00000263816.3:c.2571C>T	p.Asp857=	p.D857=	ENST00000263816	NM_004525.2	857	gaC/gaT	0	1	1	UPI0000141BA5	0		ENST00000263816		ENSG00000081479	6694		39			HGNC	p.D857D	rs745850795	LRP2		SNV			1				ENST00000263816	protein_coding			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825		D		A		2857/15808	1.51E-05			Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;LRP2,synonymous_variant,p.=,ENST00000443831,;							LOW	2571/13968		LRP2_HUMAN			Transcript			.	ENSP00000263816	8.24E-06	CCDS2232.1			1	
C20orf26	0	LGGM	GRCh37	20	20232344	20232344	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	37	7	.	.	ENST00000245957.5:c.2265G>T	p.Val755=	p.V755=	ENST00000245957	NM_015585.3	755	gtG/gtT	0	1	1	UPI0000206AE4	0		ENST00000245957		ENSG00000089101	15872		44			HGNC	p.V111V		C20orf26		SNV							ENST00000377308	protein_coding			hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178,Gene3D:3.50.50.60,Superfamily_domains:SSF51905		V		T		2341/4082				C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN			YES	C20orf26,synonymous_variant,p.=,ENST00000245957,NM_015585.3;C20orf26,synonymous_variant,p.=,ENST00000377309,;C20orf26,synonymous_variant,p.=,ENST00000389656,;C20orf26,synonymous_variant,p.=,ENST00000377293,;C20orf26,non_coding_transcript_exon_variant,,ENST00000476414,;C20orf26,non_coding_transcript_exon_variant,,ENST00000468719,;C20orf26,synonymous_variant,p.=,ENST00000377308,;RPL17P1,downstream_gene_variant,,ENST00000445304,;							LOW	2265/3714		CT026_HUMAN			Transcript			.	ENSP00000245957		CCDS33447.1			1	
CNR2	0	LGGM	GRCh37	1	24201185	24201185	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	59	7	.	.	ENST00000536471.1:c.923C>T	p.Ser308Phe	p.S308F	ENST00000536471		308	tCc/tTc	0	1		UPI000000DCA3	0	NA	ENST00000374472		ENSG00000188822	2160		66	0.895		HGNC	p.S308F	rs776045128	CNR2		SNV							ENST00000536471	protein_coding	getma.org/?cm=var&var=hg19,1,24201185,G,A&fts=all		Prints_domain:PR00362,Prints_domain:PR00523,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF11		S/F		A	low	1085/5254	1.50E-05	getma.org/?cm=msa&ty=f&p=CNR2_HUMAN&rb=300&re=360&var=S308F	tolerated(0.08)	C6ES44_HUMAN				CNR2,missense_variant,p.Ser308Phe,ENST00000536471,;CNR2,missense_variant,p.Ser308Phe,ENST00000374472,NM_001841.2;							MODERATE	923/1083	S308F	CNR2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000363596	8.24E-06	CCDS245.1			1	
ASCC3	0	LGGM	GRCh37	6	101109699	101109699	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	68	8	.	.	ENST00000369162.2:c.2686G>C	p.Asp896His	p.D896H	ENST00000369162	NM_006828.2	896	Gat/Cat	0	1	1	UPI000014145A	0	getma.org/pdb.php?prot=ASCC3_HUMAN&from=728&to=914&var=D896H	ENST00000369162		ENSG00000112249	18697		76	3.165		HGNC	p.D896H	COSM3828678	ASCC3		SNV						1	ENST00000369162	protein_coding	getma.org/?cm=var&var=hg19,6,101109699,C,G&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF8,Superfamily_domains:SSF46785		D/H		G	medium	3031/8146		getma.org/?cm=msa&ty=f&p=ASCC3_HUMAN&rb=728&re=914&var=D896H	deleterious(0)	E5RFZ0_HUMAN			YES	ASCC3,missense_variant,p.Asp896His,ENST00000369162,NM_006828.2;ASCC3,3_prime_UTR_variant,,ENST00000324696,;					1		MODERATE	2686/6609	D896H	ASCC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358159		CCDS5046.1			1	
STEAP4	0	LGGM	GRCh37	7	87913171	87913171	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	51	8	.	.	ENST00000380079.4:c.414A>T	p.Ser138=	p.S138=	ENST00000380079	NM_024636.3	138	tcA/tcT	0	1	1	UPI000003C39A	0		ENST00000380079		ENSG00000127954	21923		59			HGNC	p.S138S		STEAP4		SNV							ENST00000414498	protein_coding			hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		S		A		516/4451							YES	STEAP4,synonymous_variant,p.=,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,synonymous_variant,p.=,ENST00000414498,;STEAP4,synonymous_variant,p.=,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,;							LOW	414/1380		STEA4_HUMAN			Transcript			.	ENSP00000369419		CCDS43611.1			1	
MROH2A	0	LGGM	GRCh37	2	234726662	234726662	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	29	8	.	.	ENST00000389758.3:c.2976G>T	p.Leu992=	p.L992=	ENST00000389758		992	ctG/ctT	0	1	1	UPI0003B9285E	0		ENST00000389758		ENSG00000185038	27936		37			HGNC	p.L992L		MROH2A		SNV							ENST00000389758	protein_coding			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371		L		T		3142/5355				F8VUA0_HUMAN,C9IYW5_HUMAN			YES	MROH2A,synonymous_variant,p.=,ENST00000389758,;							LOW	2976/5025					Transcript			.	ENSP00000374408					1	
WDR17	0	LGGM	GRCh37	4	177056377	177056377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	53	8	.	.	ENST00000280190.4:c.1289A>T	p.Tyr430Phe	p.Y430F	ENST00000280190		430	tAc/tTc	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		61	0.895		HGNC	p.Y413F		WDR17		SNV							ENST00000507824	protein_coding	getma.org/?cm=var&var=hg19,4,177056377,A,T&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998		Y/F		T	low	1445/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=423&re=468&var=Y430F	tolerated(0.33)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Tyr406Phe,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Tyr430Phe,ENST00000280190,;WDR17,missense_variant,p.Tyr406Phe,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Tyr413Phe,ENST00000507824,;WDR17,missense_variant,p.Tyr179Phe,ENST00000505894,;							MODERATE	1289/3969	Y430F	WDR17_HUMAN			Transcript		benign(0.06)	.	ENSP00000280190		CCDS3825.1			1	
MDH1B	0	LGGM	GRCh37	2	207613786	207613786	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	24	8	.	.	ENST00000374412.3:c.1174T>C	p.Ser392Pro	p.S392P	ENST00000374412	NM_001039845.1	392	Tca/Cca	0	1	1	UPI00001D7E19	0	getma.org/pdb.php?prot=MDH1B_HUMAN&from=288&to=458&var=S392P	ENST00000374412		ENSG00000138400	17836		32	2.485		HGNC	p.S392P		MDH1B		SNV							ENST00000454776	protein_coding	getma.org/?cm=var&var=hg19,2,207613786,A,G&fts=all		hmmpanther:PTHR23382:SF1,hmmpanther:PTHR23382,Gene3D:3.90.110.10,Pfam_domain:PF02866,Superfamily_domains:SSF56327		S/P		G	medium	1450/2553		getma.org/?cm=msa&ty=f&p=MDH1B_HUMAN&rb=288&re=458&var=S392P	deleterious(0)	C9JER5_HUMAN,B4DY40_HUMAN			YES	MDH1B,missense_variant,p.Ser392Pro,ENST00000374412,NM_001039845.1;MDH1B,missense_variant,p.Ser392Pro,ENST00000454776,NM_001282940.1;MDH1B,missense_variant,p.Ser294Pro,ENST00000449792,;MDH1B,missense_variant,p.Ser179Pro,ENST00000392214,;MDH1B,missense_variant,p.Ser179Pro,ENST00000432911,;MDH1B,3_prime_UTR_variant,,ENST00000436472,;							MODERATE	1174/1557	S392P	MDH1B_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000363533		CCDS33365.1			1	
PAX4	0	LGGM	GRCh37	7	127253518	127253518	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	47	8	.	.	ENST00000341640.2:c.607G>A	p.Glu203Lys	p.E203K	ENST00000341640	NM_006193.2	203	Gag/Aag	0	1	1	UPI000013C824	0	getma.org/pdb.php?prot=PAX4_HUMAN&from=171&to=227&var=E211K	ENST00000341640		ENSG00000106331	8618		55	2.585		HGNC	p.E203K		PAX4		SNV			1				ENST00000341640	protein_coding	getma.org/?cm=var&var=hg19,7,127253518,C,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,SMART_domains:SM00389,Superfamily_domains:SSF46689		E/K		T	medium	813/2010		getma.org/?cm=msa&ty=f&p=PAX4_HUMAN&rb=171&re=227&var=E211K	deleterious(0)				YES	PAX4,missense_variant,p.Glu203Lys,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Glu211Lys,ENST00000338516,;PAX4,missense_variant,p.Glu201Lys,ENST00000463946,;PAX4,missense_variant,p.Glu203Lys,ENST00000378740,;PAX4,missense_variant,p.Glu201Lys,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;							MODERATE	607/1032	E211K	PAX4_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000339906		CCDS5797.1			1	
ATP2A1	0	LGGM	GRCh37	16	28900150	28900150	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	64	8	.	.	ENST00000357084.3:c.971G>A	p.Arg324His	p.R324H	ENST00000357084	NM_173201.3	324	cGt/cAt	0	1	1	UPI000003B461	0	getma.org/pdb.php?prot=AT2A1_HUMAN&from=93&to=341&var=R324H	ENST00000357084		ENSG00000196296	811		72	2.35		HGNC	p.R199H	rs751166692	ATP2A1	6.06E-05	SNV			1				ENST00000536376	protein_coding	getma.org/?cm=var&var=hg19,16,28900150,G,A&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF215,TIGRFAM_domain:TIGR01116,TIGRFAM_domain:TIGR01494		R/H		A	medium	1238/3532	1.50E-05	getma.org/?cm=msa&ty=f&p=AT2A1_HUMAN&rb=93&re=341&var=R324H	deleterious(0)	H3BUU3_HUMAN			YES	ATP2A1,missense_variant,p.Arg324His,ENST00000395503,NM_004320.4;ATP2A1,missense_variant,p.Arg324His,ENST00000357084,NM_173201.3;ATP2A1,missense_variant,p.Arg199His,ENST00000536376,NM_001286075.1;ATP2A1,upstream_gene_variant,,ENST00000565042,;ATP2A1,missense_variant,p.Arg35His,ENST00000564732,;ATP2A1,upstream_gene_variant,,ENST00000564470,;							MODERATE	971/3006	R324H	AT2A1_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000349595	1.65E-05	CCDS10643.1			1	
GLT8D2	0	LGGM	GRCh37	12	104388111	104388111	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	16	9	.	.	ENST00000360814.4:c.767+2T>C		p.X256_splice	ENST00000360814	NM_031302.3			0	1	1	UPI000004B633	0		ENST00000360814		ENSG00000120820	24890		25			HGNC	-		GLT8D2		SNV							ENST00000360814	protein_coding							G		-/1880				F8VZP2_HUMAN			YES	GLT8D2,splice_donor_variant,,ENST00000360814,NM_031302.3;GLT8D2,splice_donor_variant,,ENST00000548660,;GLT8D2,splice_donor_variant,,ENST00000546436,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000552572,;							HIGH	767/1050		GL8D2_HUMAN			Transcript			.	ENSP00000354053		CCDS9096.1			1	
SULT4A1	0	LGGM	GRCh37	22	44221959	44221959	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	59	9	.	.	ENST00000330884.4:c.777C>T	p.Val259=	p.V259=	ENST00000330884	NM_014351.3	259	gtC/gtT	0	1	1	UPI0000135477	0		ENST00000330884		ENSG00000130540	14903		68			HGNC	p.V259V		SULT4A1		SNV							ENST00000330884	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF5,Superfamily_domains:SSF52540		V		A		898/2468				B7Z320_HUMAN			YES	SULT4A1,synonymous_variant,p.=,ENST00000330884,NM_014351.3;SULT4A1,synonymous_variant,p.=,ENST00000540422,;SULT4A1,downstream_gene_variant,,ENST00000249130,;SULT4A1,3_prime_UTR_variant,,ENST00000422525,;SULT4A1,3_prime_UTR_variant,,ENST00000432404,;SULT4A1,downstream_gene_variant,,ENST00000475131,;							LOW	777/855		ST4A1_HUMAN			Transcript			.	ENSP00000332565		CCDS14051.1			1	
ZBTB8B	0	LGGM	GRCh37	1	32950741	32950741	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	59	9	.	.	ENST00000480336.1:c.1210A>T	p.Arg404Trp	p.R404W	ENST00000480336		404	Agg/Tgg	0	1	1	UPI000195170E	0	NA	ENST00000609129		ENSG00000273274	37057		68	0		HGNC	p.R404W		ZBTB8B		SNV							ENST00000415091	protein_coding	getma.org/?cm=var&var=hg19,1,32950741,A,T&fts=all		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF26,Superfamily_domains:SSF57667		R/W		T	neutral	1288/12834		getma.org/?cm=msa&ty=f&p=ZBT8B_HUMAN&rb=381&re=427&var=R404W	deleterious(0)				YES	ZBTB8B,missense_variant,p.Arg404Trp,ENST00000609129,NM_001145720.1;RP1-27O5.3,missense_variant,p.Arg404Trp,ENST00000480336,;							MODERATE	1210/1488	R404W	ZBT8B_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000476499		CCDS44104.1			1	
IKZF2	0	LGGM	GRCh37	2	213872096	213872096	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	39	9	.	.	ENST00000457361.1:c.1569C>T	p.His523=	p.H523=	ENST00000457361	NM_016260.2	523	caC/caT	0	1		UPI000013D4DA	0		ENST00000434687		ENSG00000030419	13177		48			HGNC	p.H529H	rs368476748	IKZF2		SNV	A:0						ENST00000342002	protein_coding			hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404,SMART_domains:SM00355		H	A:0.0001	A		1879/3888				Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN				IKZF2,synonymous_variant,p.=,ENST00000457361,NM_016260.2;IKZF2,synonymous_variant,p.=,ENST00000434687,;IKZF2,synonymous_variant,p.=,ENST00000342002,;IKZF2,synonymous_variant,p.=,ENST00000374319,NM_001079526.1;IKZF2,synonymous_variant,p.=,ENST00000451136,;IKZF2,synonymous_variant,p.=,ENST00000421754,;IKZF2,synonymous_variant,p.=,ENST00000374327,;IKZF2,3_prime_UTR_variant,,ENST00000413091,;AC079610.1,intron_variant,,ENST00000415387,;IKZF2,3_prime_UTR_variant,,ENST00000431520,;IKZF2,3_prime_UTR_variant,,ENST00000439848,;IKZF2,3_prime_UTR_variant,,ENST00000412444,;IKZF2,3_prime_UTR_variant,,ENST00000453575,;IKZF2,3_prime_UTR_variant,,ENST00000374326,;IKZF2,non_coding_transcript_exon_variant,,ENST00000484040,;							LOW	1569/1581		IKZF2_HUMAN			Transcript			.	ENSP00000412869		CCDS2395.1			1	
ALPL	0	LGGM	GRCh37	1	21902406	21902406	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	42	9	.	.	ENST00000374840.3:c.1178A>G	p.Asn393Ser	p.N393S	ENST00000374840	NM_000478.4	393	aAc/aGc	0	1		UPI000013E17C	0	getma.org/pdb.php?prot=PPBT_HUMAN&from=51&to=490&var=N393S	ENST00000374832		ENSG00000162551	438		51	1.915		HGNC	p.N393S		ALPL		SNV			1				ENST00000374840	protein_coding	getma.org/?cm=var&var=hg19,1,21902406,A,G&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF33,SMART_domains:SM00098,Superfamily_domains:SSF53649		N/S		G	medium	1432/2193		getma.org/?cm=msa&ty=f&p=PPBT_HUMAN&rb=51&re=490&var=N393S	tolerated(0.41)	B1ANL0_HUMAN				ALPL,missense_variant,p.Asn393Ser,ENST00000374840,NM_000478.4;ALPL,missense_variant,p.Asn338Ser,ENST00000540617,NM_001127501.2;ALPL,missense_variant,p.Asn393Ser,ENST00000425315,;ALPL,missense_variant,p.Asn316Ser,ENST00000539907,NM_001177520.1;ALPL,missense_variant,p.Asn393Ser,ENST00000374832,;ALPL,missense_variant,p.Asn39Ser,ENST00000374829,;ALPL,missense_variant,p.Asn39Ser,ENST00000374830,;							MODERATE	1178/1575	N393S	PPBT_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000363965		CCDS217.1			1	
ANO3	0	LGGM	GRCh37	11	26620478	26620478	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	32	9	.	.	ENST00000256737.3:c.1604A>T	p.Glu535Val	p.E535V	ENST00000256737	NM_031418.2	535	gAa/gTa	0	1	1	UPI00001F9ED8	0	NA	ENST00000256737		ENSG00000134343	14004		41	2.62		HGNC	p.E519V		ANO3		SNV			1				ENST00000525139	protein_coding	getma.org/?cm=var&var=hg19,11,26620478,A,T&fts=all		hmmpanther:PTHR12308:SF16,hmmpanther:PTHR12308,Pfam_domain:PF04547		E/V		T	medium	2456/6642		getma.org/?cm=msa&ty=f&p=ANO3_HUMAN&rb=384&re=951&var=E535V	deleterious(0)	E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN			YES	ANO3,missense_variant,p.Glu535Val,ENST00000256737,NM_031418.2;ANO3,missense_variant,p.Glu519Val,ENST00000537978,;ANO3,missense_variant,p.Glu519Val,ENST00000525139,;ANO3,missense_variant,p.Glu389Val,ENST00000531568,;							MODERATE	1604/2946	E535V	ANO3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256737		CCDS31447.1			1	
MAPK8IP1	0	LGGM	GRCh37	11	45924641	45924641	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	23	9	.	.	ENST00000241014.2:c.1323C>T	p.Ala441=	p.A441=	ENST00000241014	NM_005456.3	441	gcC/gcT	0	1	1	UPI000003046D	0		ENST00000241014		ENSG00000121653	6882		32			HGNC	p.A441A		MAPK8IP1		SNV			1				ENST00000241014	protein_coding					A		T		1493/3050				Q59EU1_HUMAN,B4DJ64_HUMAN			YES	MAPK8IP1,synonymous_variant,p.=,ENST00000395629,;MAPK8IP1,synonymous_variant,p.=,ENST00000241014,NM_005456.3;C11orf94,downstream_gene_variant,,ENST00000449465,NM_001080446.2;RP11-618K13.2,downstream_gene_variant,,ENST00000533218,;MAPK8IP1,downstream_gene_variant,,ENST00000497090,;							LOW	1323/2136		JIP1_HUMAN			Transcript			.	ENSP00000241014		CCDS7916.1			1	
FHOD3	0	LGGM	GRCh37	18	34205561	34205561	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	21	10	.	.	ENST00000257209.4:c.1045A>T	p.Ser349Cys	p.S349C	ENST00000257209	NM_025135.2	349	Agt/Tgt	0	1		UPI0000EE543D	0	NA	ENST00000359247		ENSG00000134775	26178		31	0		HGNC	p.S349C		FHOD3		SNV							ENST00000445677	protein_coding	getma.org/?cm=var&var=hg19,18,34205561,A,T&fts=all		PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213,Superfamily_domains:SSF48371		S/C		T	neutral	1045/4518		getma.org/?cm=msa&ty=f&p=FHOD3_HUMAN&rb=1&re=372&var=S349C	deleterious(0.04)					FHOD3,missense_variant,p.Ser349Cys,ENST00000257209,NM_025135.2;FHOD3,missense_variant,p.Ser349Cys,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Ser349Cys,ENST00000445677,;FHOD3,missense_variant,p.Ser349Cys,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Ser148Cys,ENST00000592930,;FHOD3,synonymous_variant,p.=,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;							MODERATE	1045/4269	S349C	FHOD3_HUMAN			Transcript		benign(0.229)	.	ENSP00000352186		CCDS62419.1			1	
PXDNL	0	LGGM	GRCh37	8	52320754	52320754	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	45	10	.	.	ENST00000356297.4:c.3430A>T	p.Arg1144Trp	p.R1144W	ENST00000356297	NM_144651.4	1144	Agg/Tgg	0	1	1	UPI0001AE6ED6	0	getma.org/pdb.php?prot=PXDNL_HUMAN&from=727&to=1272&var=R1144W	ENST00000356297		ENSG00000147485	26359		55	4.52		HGNC	p.R410W		PXDNL		SNV							ENST00000522628	protein_coding	getma.org/?cm=var&var=hg19,8,52320754,T,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		R/W		A	high	3531/4805		getma.org/?cm=msa&ty=f&p=PXDNL_HUMAN&rb=727&re=1272&var=R1144W	deleterious(0)				YES	PXDNL,missense_variant,p.Arg1144Trp,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Arg1144Trp,ENST00000543296,;PXDNL,missense_variant,p.Arg263Trp,ENST00000522933,;PXDNL,missense_variant,p.Arg410Trp,ENST00000522628,;							MODERATE	3430/4392	R1144W	PXDNL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348645		CCDS47855.1			1	
HIST1H4E	0	LGGM	GRCh37	6	26205087	26205087	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	37	10	.	.	ENST00000360441.4:c.215C>G	p.Thr72Ser	p.T72S	ENST00000360441	NM_003545.3	72	aCt/aGt	0	1	1	UPI000000003C	0		ENST00000360441		ENSG00000198518	4790		47			HGNC	p.T72S		HIST1H4E		SNV							ENST00000360441	protein_coding			Prints_domain:PR00623,Superfamily_domains:SSF47113,SMART_domains:SM00417,SMART_domains:SM00803,Pfam_domain:PF00125,Gene3D:1.10.20.10,hmmpanther:PTHR10484		T/S		G		230/1409			deleterious(0.03)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4E,missense_variant,p.Thr72Ser,ENST00000360441,NM_003545.3;HIST1H2BF,downstream_gene_variant,,ENST00000359985,NM_003522.3;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;							MODERATE	215/312		H4_HUMAN			Transcript		benign(0.261)	.	ENSP00000353624		CCDS4593.1			1	
KIAA0226L	0	LGGM	GRCh37	13	46942349	46942349	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	44	10	.	.	ENST00000429979.1:c.654A>T	p.Ile218=	p.I218=	ENST00000429979	NM_025113.2	218	atA/atT	0	1		UPI00001FCD59	0		ENST00000389908		ENSG00000102445	20420		54			HGNC	p.I83I		KIAA0226L		SNV							ENST00000417405	protein_coding			hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF9		I		A		1237/2993				Q5W050_HUMAN,A8XR14_HUMAN,A8KAG9_HUMAN				KIAA0226L,synonymous_variant,p.=,ENST00000429979,NM_025113.2;KIAA0226L,synonymous_variant,p.=,ENST00000378781,;KIAA0226L,synonymous_variant,p.=,ENST00000378797,NM_001286762.1;KIAA0226L,synonymous_variant,p.=,ENST00000409879,;KIAA0226L,synonymous_variant,p.=,ENST00000389908,;KIAA0226L,synonymous_variant,p.=,ENST00000378787,;KIAA0226L,synonymous_variant,p.=,ENST00000378784,NM_001286763.1;KIAA0226L,synonymous_variant,p.=,ENST00000534925,NM_001286764.1;KIAA0226L,synonymous_variant,p.=,ENST00000322896,;KIAA0226L,synonymous_variant,p.=,ENST00000417405,;KIAA0226L,downstream_gene_variant,,ENST00000439642,;KIAA0226L,downstream_gene_variant,,ENST00000480935,;KIAA0226L,synonymous_variant,p.=,ENST00000441284,;PPP1R2P4,non_coding_transcript_exon_variant,,ENST00000535073,;							LOW	654/1989		K226L_HUMAN			Transcript			.	ENSP00000374558		CCDS31970.2			1	
CWF19L2	0	LGGM	GRCh37	11	107325191	107325191	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	13	10	.	.	ENST00000282251.5:c.324A>T	p.Ser108=	p.S108=	ENST00000282251	NM_152434.2	108	tcA/tcT	0	1	1	UPI00005A81B4	0		ENST00000282251		ENSG00000152404	26508		23			HGNC	p.S108S		CWF19L2		SNV							ENST00000282251	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072		S		A		352/3278				Q6PIV4_HUMAN			YES	CWF19L2,synonymous_variant,p.=,ENST00000282251,NM_152434.2;CWF19L2,synonymous_variant,p.=,ENST00000433523,;							LOW	324/2685		C19L2_HUMAN			Transcript			.	ENSP00000282251		CCDS8336.2			1	
GPATCH4	0	LGGM	GRCh37	1	156567714	156567714	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	85	10	.	.	ENST00000438976.2:c.348+113T>A		*116*	ENST00000438976				0	1	1	UPI00001B55A9	0		ENST00000438976		ENSG00000160818	25982		95			HGNC	p.W112R		GPATCH4		SNV							ENST00000474904	protein_coding							T		-/1159				E9PAV9_HUMAN			YES	GPATCH4,missense_variant,p.Val103Glu,ENST00000334588,;GPATCH4,intron_variant,,ENST00000368232,NM_015590.3,NM_182679.2;GPATCH4,intron_variant,,ENST00000438976,;GPATCH4,intron_variant,,ENST00000415314,;APOA1BP,downstream_gene_variant,,ENST00000368235,NM_144772.2;APOA1BP,downstream_gene_variant,,ENST00000368233,;APOA1BP,downstream_gene_variant,,ENST00000368234,;GPATCH4,intron_variant,,ENST00000497287,;GPATCH4,intron_variant,,ENST00000531129,;APOA1BP,downstream_gene_variant,,ENST00000467374,;APOA1BP,downstream_gene_variant,,ENST00000488840,;GPATCH4,missense_variant,p.Trp112Arg,ENST00000474904,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000473910,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000506832,;GPATCH4,non_coding_transcript_exon_variant,,ENST00000527691,;GPATCH4,intron_variant,,ENST00000463513,;GPATCH4,intron_variant,,ENST00000494414,;GPATCH4,intron_variant,,ENST00000498756,;GPATCH4,downstream_gene_variant,,ENST00000531900,;GPATCH4,upstream_gene_variant,,ENST00000529520,;GPATCH4,upstream_gene_variant,,ENST00000498641,;GPATCH4,downstream_gene_variant,,ENST00000525375,;							MODIFIER	-/1128					Transcript			.	ENSP00000396441		CCDS44245.1			1	
LRRTM3	0	LGGM	GRCh37	10	68687172	68687172	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	58	10	.	.	ENST00000361320.4:c.498T>A	p.Ser166=	p.S166=	ENST00000361320	NM_178011.3	166	tcT/tcA	0	1	1	UPI0000088C0F	0		ENST00000361320		ENSG00000198739	19410		68			HGNC	p.S166S		LRRTM3		SNV							ENST00000373722	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058		S		A		1076/4358				B4DFC3_HUMAN			YES	LRRTM3,synonymous_variant,p.=,ENST00000361320,NM_178011.3;CTNNA3,intron_variant,,ENST00000433211,NM_013266.2;CTNNA3,intron_variant,,ENST00000373744,NM_001127384.1;CTNNA3,intron_variant,,ENST00000494580,;							LOW	498/1746		LRRT3_HUMAN			Transcript			.	ENSP00000355187		CCDS7270.1			1	
SETD2	0	LGGM	GRCh37	3	47166040	47166040	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	29	11	.	.	ENST00000409792.3:c.88-2A>T		p.X30_splice	ENST00000409792	NM_014159.6			0	1	1	UPI00017E10FB	0		ENST00000409792		ENSG00000181555	18420		40			HGNC	-		SETD2		SNV			1				ENST00000409792	protein_coding							A		-/8142				C9JG86_HUMAN			YES	SETD2,splice_acceptor_variant,,ENST00000409792,NM_014159.6;SETD2,splice_acceptor_variant,,ENST00000412450,;SETD2,upstream_gene_variant,,ENST00000330022,;SETD2,upstream_gene_variant,,ENST00000431180,;SETD2,upstream_gene_variant,,ENST00000445387,;							HIGH	88/7695		SETD2_HUMAN			Transcript			.	ENSP00000386759		CCDS2749.2			1	
DNAH8	0	LGGM	GRCh37	6	38980140	38980140	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	56	11	.	.	ENST00000359357.3:c.12870T>A	p.Ser4290Arg	p.S4290R	ENST00000359357		4290	agT/agA	0	1	1	UPI00003677EB	0	getma.org/pdb.php?prot=DYH8_HUMAN&from=3792&to=4488&var=S4290R	ENST00000359357		ENSG00000124721	2952		67	4.575		HGNC	p.S4254R		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38980140,T,A&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		S/R		A	high	13124/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3792&re=4488&var=S4290R					YES	DNAH8,missense_variant,p.Ser4495Arg,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ser4290Arg,ENST00000359357,;DNAH8,missense_variant,p.Ser4254Arg,ENST00000441566,;							MODERATE	12870/13473	S4290R	DYH8_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000352312					1	
ANKH	0	LGGM	GRCh37	5	14749311	14749311	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	67	11	.	.	ENST00000284268.6:c.792G>T	p.Arg264=	p.R264=	ENST00000284268	NM_054027.4	264	cgG/cgT	0	1	1	UPI000003F535	0		ENST00000284268		ENSG00000154122	15492		78			HGNC	p.R264R		ANKH		SNV			1				ENST00000284268	protein_coding			Pfam_domain:PF07260		R		A		1123/8203				B3KMG4_HUMAN			YES	ANKH,synonymous_variant,p.=,ENST00000284268,NM_054027.4;ANKH,synonymous_variant,p.=,ENST00000535119,;ANKH,non_coding_transcript_exon_variant,,ENST00000503939,;ANKH,non_coding_transcript_exon_variant,,ENST00000515517,;							LOW	792/1479		ANKH_HUMAN			Transcript			.	ENSP00000284268		CCDS3885.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18661962	18661962	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	45	11	.	.	ENST00000380548.4:c.976G>A	p.Asp326Asn	p.D326N	ENST00000380548	NM_001040272.5	326	Gat/Aat	0	1	1	UPI000004FD83	0	NA	ENST00000380548		ENSG00000178031	14632		56	0.835		HGNC	p.D326N	rs756246381,COSM3091148,COSM3091147,COSM3091149	ADAMTSL1		SNV						0,1,1,1	ENST00000380548	protein_coding	getma.org/?cm=var&var=hg19,9,18661962,G,A&fts=all		hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		D/N		A	low	1315/8030	0.00012	getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=282&re=379&var=D326N	deleterious(0)	H7BYE3_HUMAN			YES	ADAMTSL1,missense_variant,p.Asp326Asn,ENST00000380548,NM_001040272.5;ADAMTSL1,missense_variant,p.Asp326Asn,ENST00000276935,;ADAMTSL1,missense_variant,p.Asp326Asn,ENST00000380566,;ADAMTSL1,missense_variant,p.Asp326Asn,ENST00000327883,NM_052866.4;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000546040,;					0,1,1,1		MODERATE	976/5289	D326N	ATL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369921	6.59E-05	CCDS47954.1			1	
SMURF2	0	LGGM	GRCh37	17	62582218	62582218	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	58	12	.	.	ENST00000262435.9:c.471C>T	p.Asn157=	p.N157=	ENST00000262435	NM_022739.3	157	aaC/aaT	0	1	1	UPI00001361C5	0		ENST00000262435		ENSG00000108854	16809		70			HGNC	p.N144N	rs782206796	SMURF2		SNV							ENST00000585301	protein_coding			Gene3D:2.20.70.10,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,Superfamily_domains:SSF51045		N		A		659/2918				Q96DE7_HUMAN			YES	SMURF2,synonymous_variant,p.=,ENST00000262435,NM_022739.3;SMURF2,synonymous_variant,p.=,ENST00000585301,;SMURF2,intron_variant,,ENST00000578200,;SMURF2,3_prime_UTR_variant,,ENST00000582081,;SMURF2,intron_variant,,ENST00000578386,;	0.000116						LOW	471/2247		SMUF2_HUMAN			Transcript			.	ENSP00000262435	8.24E-06	CCDS32707.1			1	
NRXN2	0	LGGM	GRCh37	11	64390226	64390226	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	38	12	.	.	ENST00000265459.6:c.4172A>T	p.Gln1391Leu	p.Q1391L	ENST00000265459	NM_015080.3	1391	cAg/cTg	0	1	1	UPI0000130AA2	0	NA	ENST00000265459		ENSG00000110076	8009		50	1.895		HGNC	p.Q1391L		NRXN2		SNV			1				ENST00000265459	protein_coding	getma.org/?cm=var&var=hg19,11,64390226,T,A&fts=all		hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127		Q/L		A	low	4634/6621		getma.org/?cm=msa&ty=f&p=NRX2A_HUMAN&rb=1319&re=1518&var=Q1391L	deleterious(0)				YES	NRXN2,missense_variant,p.Gln1391Leu,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Gln1321Leu,ENST00000377559,NM_138732.2;NRXN2,missense_variant,p.Gln1384Leu,ENST00000409571,;NRXN2,missense_variant,p.Gln1391Leu,ENST00000377551,;NRXN2,missense_variant,p.Gln345Leu,ENST00000301894,NM_138734.2;NRXN2,missense_variant,p.Gln276Leu,ENST00000423049,;NRXN2,splice_region_variant,,ENST00000475737,;NRXN2,splice_region_variant,,ENST00000464307,;							MODERATE	4172/5139	Q1391L	NRX2A_HUMAN			Transcript		benign(0)	.	ENSP00000265459		CCDS8077.1			1	
DNAH11	0	LGGM	GRCh37	7	21628893	21628893	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	84	12	.	.	ENST00000328843.6:c.2041C>T	p.Gln681Ter	p.Q681*	ENST00000328843		681	Caa/Taa	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		96			HGNC	p.Q681X		DNAH11		SNV			1				ENST00000328843	protein_coding			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		Q/*		T		2072/14167				U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,stop_gained,p.Gln681Ter,ENST00000328843,;DNAH11,stop_gained,p.Gln681Ter,ENST00000409508,NM_001277115.1;							HIGH	2041/13551					Transcript			.	ENSP00000475939		CCDS64602.1			1	
CLRN1	0	LGGM	GRCh37	3	150645931	150645931	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	57	13	.	.	ENST00000328863.4:c.530T>A	p.Leu177His	p.L177H	ENST00000328863	NM_001195794.1	177	cTc/cAc	0	1		UPI0000073C5F	0	NA	ENST00000327047		ENSG00000163646	12605		70	2.255		HGNC	p.L164H		CLRN1		SNV			1				ENST00000327047	protein_coding	getma.org/?cm=var&var=hg19,3,150645931,A,T&fts=all		Pfam_domain:PF13903,hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF4		L/H		T	medium	782/2359		getma.org/?cm=msa&ty=f&p=CLRN1_HUMAN&rb=17&re=208&var=L164H	deleterious(0.02)	C9JWF3_HUMAN				CLRN1,missense_variant,p.Leu164His,ENST00000327047,NM_174878.2;CLRN1,missense_variant,p.Leu88His,ENST00000295911,NM_052995.2;CLRN1,missense_variant,p.Leu177His,ENST00000328863,NM_001195794.1;CLRN1,missense_variant,p.Leu88His,ENST00000468836,;CLRN1,downstream_gene_variant,,ENST00000485607,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.2,intron_variant,,ENST00000469268,;RP11-166N6.3,intron_variant,,ENST00000569170,;RP11-166N6.3,intron_variant,,ENST00000562308,;RP11-166N6.3,intron_variant,,ENST00000565169,;							MODERATE	491/699	L164H	CLRN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322280		CCDS3153.1			1	
ZNF92	0	LGGM	GRCh37	7	64864544	64864544	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	53	13	.	.	ENST00000328747.7:c.1517G>A	p.Gly506Glu	p.G506E	ENST00000328747	NM_152626.2	506	gGg/gAg	0	1	1	UPI0000073CE6	0	getma.org/pdb.php?prot=ZNF92_HUMAN&from=496&to=520&var=G506E	ENST00000328747		ENSG00000146757	13168		66	-1.65		HGNC	p.G506E		ZNF92		SNV							ENST00000328747	protein_coding	getma.org/?cm=var&var=hg19,7,64864544,G,A&fts=all		PROSITE_profiles:PS50157,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/E		A	neutral	1716/3210		getma.org/?cm=msa&ty=f&p=ZNF92_HUMAN&rb=476&re=540&var=G506E	tolerated(1)	C9IZS8_HUMAN			YES	ZNF92,missense_variant,p.Gly506Glu,ENST00000328747,NM_152626.2;ZNF92,missense_variant,p.Gly474Glu,ENST00000357512,NM_001287532.1;ZNF92,missense_variant,p.Gly437Glu,ENST00000450302,NM_007139.2;ZNF92,missense_variant,p.Gly430Glu,ENST00000431504,NM_001287534.1;							MODERATE	1517/1761	G506E	ZNF92_HUMAN			Transcript		benign(0.003)	.	ENSP00000332595		CCDS34646.1			1	
PSTPIP2	0	LGGM	GRCh37	18	43604644	43604644	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	75	13	.	.	ENST00000409746.5:c.143T>C	p.Ile48Thr	p.I48T	ENST00000409746	NM_024430.3	48	aTt/aCt	0	1	1	UPI0000035DB3	0	getma.org/pdb.php?prot=PPIP2_HUMAN&from=8&to=98&var=I48T	ENST00000409746		ENSG00000152229	9581		88	2.73		HGNC	p.I48T		PSTPIP2		SNV							ENST00000589328	protein_coding	getma.org/?cm=var&var=hg19,18,43604644,A,G&fts=all		PROSITE_profiles:PS50133,hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF9,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657		I/T		G	medium	215/3000		getma.org/?cm=msa&ty=f&p=PPIP2_HUMAN&rb=8&re=98&var=I48T	tolerated(0.09)				YES	PSTPIP2,missense_variant,p.Ile48Thr,ENST00000409746,NM_024430.3;PSTPIP2,missense_variant,p.Ile48Thr,ENST00000589328,;PSTPIP2,non_coding_transcript_exon_variant,,ENST00000588801,;PSTPIP2,non_coding_transcript_exon_variant,,ENST00000587042,;RP11-8H2.1,upstream_gene_variant,,ENST00000591191,;							MODERATE	143/1005	I48T	PPIP2_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000387261		CCDS32820.2			1	
DLG2	0	LGGM	GRCh37	11	83344359	83344359	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	86	13	.	.	ENST00000376104.2:c.1835G>C	p.Arg612Pro	p.R612P	ENST00000376104	NM_001142699.1	612	cGa/cCa	0	1		UPI000047CAFF	0	getma.org/pdb.php?prot=DLG2_HUMAN&from=500&to=539&var=R507P	ENST00000398309		ENSG00000150672	2901		99	2.325		HGNC	p.R16P		DLG2		SNV							ENST00000530800	protein_coding	getma.org/?cm=var&var=hg19,11,83344359,C,G&fts=all		Superfamily_domains:SSF50156,PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF6		R/P		G	medium	1991/7890		getma.org/?cm=msa&ty=f&p=DLG2_HUMAN&rb=500&re=539&var=R507P	deleterious(0)	F8W750_HUMAN,E9PQT9_HUMAN				DLG2,missense_variant,p.Arg507Pro,ENST00000398309,NM_001364.3;DLG2,missense_variant,p.Arg612Pro,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Arg612Pro,ENST00000543673,;DLG2,missense_variant,p.Arg546Pro,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Arg404Pro,ENST00000418306,NM_001142700.1;DLG2,missense_variant,p.Arg474Pro,ENST00000531015,;DLG2,missense_variant,p.Arg507Pro,ENST00000532653,;DLG2,missense_variant,p.Arg507Pro,ENST00000524982,;DLG2,missense_variant,p.Arg261Pro,ENST00000537455,;DLG2,missense_variant,p.Arg446Pro,ENST00000330014,;DLG2,missense_variant,p.Arg16Pro,ENST00000530800,;DLG2,missense_variant,p.Arg18Pro,ENST00000434967,;DLG2,5_prime_UTR_variant,,ENST00000426717,NM_001142702.1;DLG2,5_prime_UTR_variant,,ENST00000376106,;DLG2,5_prime_UTR_variant,,ENST00000404783,;DLG2,5_prime_UTR_variant,,ENST00000420775,;DLG2,5_prime_UTR_variant,,ENST00000398304,;DLG2,5_prime_UTR_variant,,ENST00000529399,;DLG2,5_prime_UTR_variant,,ENST00000524601,;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;DLG2,non_coding_transcript_exon_variant,,ENST00000456295,;							MODERATE	1520/2613	R507P	DLG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381355		CCDS41696.1			1	
CD200R1	0	LGGM	GRCh37	3	112648038	112648038	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	39	13	.	.	ENST00000308611.3:c.519A>T	p.Leu173Phe	p.L173F	ENST00000308611	NM_138806.3	173	ttA/ttT	0	1		UPI000013ED7A	0	NA	ENST00000471858		ENSG00000163606	24235		52	2.61		HGNC	p.L150F		CD200R1		SNV							ENST00000490004	protein_coding	getma.org/?cm=var&var=hg19,3,112648038,T,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF2,Superfamily_domains:SSF48726		L/F		A	medium	683/3679		getma.org/?cm=msa&ty=f&p=MO2R1_HUMAN&rb=149&re=226&var=L150F	deleterious(0.01)					CD200R1,missense_variant,p.Leu150Phe,ENST00000471858,NM_170780.2;CD200R1,missense_variant,p.Leu173Phe,ENST00000308611,NM_138806.3;CD200R1,missense_variant,p.Leu128Phe,ENST00000295863,;CD200R1,missense_variant,p.Leu173Phe,ENST00000440122,NM_138939.2;CD200R1,missense_variant,p.Leu150Phe,ENST00000490004,NM_138940.2;							MODERATE	450/978	L150F	MO2R1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000418928		CCDS2970.1			1	
CACNA2D4	0	LGGM	GRCh37	12	1994166	1994166	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	61	15	.	.	ENST00000382722.5:c.1145A>T	p.Gln382Leu	p.Q382L	ENST00000382722	NM_172364.4	382	cAg/cTg	0	1	1	UPI0000E593D9	0	NA	ENST00000382722		ENSG00000151062	20202		76	0.975		HGNC	p.Q382L		CACNA2D4		SNV			1				ENST00000587995	protein_coding	getma.org/?cm=var&var=hg19,12,1994166,T,A&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF13768,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26,SMART_domains:SM00327,Superfamily_domains:SSF53300		Q/L		A	low	1508/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=290&re=455&var=Q382L	deleterious(0.04)				YES	CACNA2D4,missense_variant,p.Gln382Leu,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Gln382Leu,ENST00000587995,;CACNA2D4,missense_variant,p.Gln382Leu,ENST00000586184,;CACNA2D4,missense_variant,p.Gln318Leu,ENST00000588077,;CACNA2D4,missense_variant,p.Gln318Leu,ENST00000585708,;CACNA2D4,missense_variant,p.Gln298Leu,ENST00000585732,;CACNA2D4,missense_variant,p.Gln382Leu,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,upstream_gene_variant,,ENST00000590880,;							MODERATE	1145/3414	Q382L	CA2D4_HUMAN			Transcript		benign(0.016)	.	ENSP00000372169		CCDS44785.1			1	
MXRA5	0	LGGM	GRCh37	X	3239933	3239933	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	32	15	.	.	ENST00000217939.6:c.3793C>A	p.His1265Asn	p.H1265N	ENST00000217939	NM_015419.3	1265	Cat/Aat	0	1	1	UPI000013C73B	0	NA	ENST00000217939		ENSG00000101825	7539		47	-0.345		HGNC	p.H1265N		MXRA5		SNV							ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3239933,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582		H/N		T	neutral	3948/9793		getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=991&re=1525&var=H1265N	tolerated(0.12)				YES	MXRA5,missense_variant,p.His1265Asn,ENST00000217939,NM_015419.3;							MODERATE	3793/8487	H1265N	MXRA5_HUMAN			Transcript		benign(0.001)	.	ENSP00000217939		CCDS14124.1			1	
RAPGEF1	0	LGGM	GRCh37	9	134465278	134465278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	35	15	.	.	ENST00000372190.3:c.2358G>T	p.Glu786Asp	p.E786D	ENST00000372190	NM_198679.1	786	gaG/gaT	0	1		UPI000021FB80	0	NA	ENST00000372189		ENSG00000107263	4568		50	1.14		HGNC	p.E714D		RAPGEF1		SNV							ENST00000429421	protein_coding	getma.org/?cm=var&var=hg19,9,134465278,C,A&fts=all		Superfamily_domains:0041591,SMART_domains:SM00229,Gene3D:2ii0A01,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40,PROSITE_profiles:PS50212		E/D		A	low	2428/6085		getma.org/?cm=msa&ty=f&p=RPGF1_HUMAN&rb=691&re=788&var=E768D	tolerated(0.58)					RAPGEF1,missense_variant,p.Glu785Asp,ENST00000372195,;RAPGEF1,missense_variant,p.Glu786Asp,ENST00000372190,NM_198679.1;RAPGEF1,missense_variant,p.Glu768Asp,ENST00000372189,NM_005312.2;RAPGEF1,missense_variant,p.Glu196Asp,ENST00000414781,;							MODERATE	2304/3234	E768D	RPGF1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000361263		CCDS48047.1			1	
CREB3	0	LGGM	GRCh37	9	35733002	35733002	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	46	15	.	.	ENST00000353704.2:c.139G>C	p.Asp47His	p.D47H	ENST00000353704	NM_006368.4	47	Gac/Cac	0	1	1	UPI0000073728	0	NA	ENST00000353704		ENSG00000107175	2347		61	2.095		HGNC	p.D47H		CREB3		SNV							ENST00000353704	protein_coding	getma.org/?cm=var&var=hg19,9,35733002,G,C&fts=all		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF100		D/H		C	medium	577/1832		getma.org/?cm=msa&ty=f&p=CREB3_HUMAN&rb=1&re=171&var=D47H	deleterious(0)	B4DSK1_HUMAN			YES	CREB3,missense_variant,p.Asp47His,ENST00000353704,NM_006368.4;TLN1,upstream_gene_variant,,ENST00000314888,NM_006289.3;TLN1,upstream_gene_variant,,ENST00000540444,;GBA2,downstream_gene_variant,,ENST00000378094,;GBA2,downstream_gene_variant,,ENST00000378103,NM_020944.2;GBA2,downstream_gene_variant,,ENST00000545786,;GBA2,downstream_gene_variant,,ENST00000378088,;CREB3,non_coding_transcript_exon_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000467252,;TLN1,upstream_gene_variant,,ENST00000378192,;							MODERATE	139/1116	D47H	CREB3_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000342136		CCDS6588.1			1	
DAAM2	0	LGGM	GRCh37	6	39835447	39835447	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	49	16	.	.	ENST00000398904.2:c.590A>T	p.Gln197Leu	p.Q197L	ENST00000398904		197	cAg/cTg	0	1		UPI000020DC88	0	getma.org/pdb.php?prot=DAAM2_HUMAN&from=40&to=228&var=Q197L	ENST00000274867		ENSG00000146122	18143		65	0.345		HGNC	p.Q197L		DAAM2		SNV							ENST00000538976	protein_coding	getma.org/?cm=var&var=hg19,6,39835447,A,T&fts=all		PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,Gene3D:1.25.10.10,Pfam_domain:PF06371,Superfamily_domains:SSF48371		Q/L		T	neutral	746/6194		getma.org/?cm=msa&ty=f&p=DAAM2_HUMAN&rb=40&re=228&var=Q197L	deleterious(0)					DAAM2,missense_variant,p.Gln197Leu,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Gln197Leu,ENST00000398904,;DAAM2,missense_variant,p.Gln197Leu,ENST00000274867,NM_001201427.1;DAAM2,downstream_gene_variant,,ENST00000494405,;							MODERATE	590/3207	Q197L	DAAM2_HUMAN			Transcript		benign(0.401)	.	ENSP00000274867		CCDS56426.1			1	
MANSC4	0	LGGM	GRCh37	12	27916232	27916232	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	82	16	.	.	ENST00000381273.3:c.462T>A	p.Ala154=	p.A154=	ENST00000381273	NM_001146221.1	154	gcT/gcA	0	1	1	UPI00019912E6	0		ENST00000381273		ENSG00000205693	40023		98			HGNC	p.A154A		MANSC4		SNV							ENST00000381273	protein_coding			hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF10		A		T		462/1023							YES	MANSC4,synonymous_variant,p.=,ENST00000381273,NM_001146221.1;							LOW	462/1023		MANS4_HUMAN			Transcript			.	ENSP00000370673		CCDS53770.1			1	
IGHG2	0	LGGM	GRCh37	14	106110185	106110185	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	155	16	.	.	ENST00000390545.2:c.433G>C	p.Val145Leu	p.V145L	ENST00000390545		145	Gtg/Ctg	0	1	1	UPI0000140AFA	0		ENST00000390545		ENSG00000211893	5526		171			HGNC	p.V145L		IGHG2		SNV			1				ENST00000390545	IG_C_gene			Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,SMART_domains:SM00407,Superfamily_domains:SSF48726		V/L		G		433/1132			tolerated(0.57)				YES	IGHG2,missense_variant,p.Val145Leu,ENST00000390545,;RP11-731F5.2,downstream_gene_variant,,ENST00000497397,;RP11-731F5.2,downstream_gene_variant,,ENST00000460164,;							MODERATE	433/981		IGHG2_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000374987					1	
PRR19	0	LGGM	GRCh37	19	42814734	42814734	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	56	16	.	.	ENST00000499536.2:c.913C>T	p.Leu305Phe	p.L305F	ENST00000499536		305	Ctc/Ttc	0	1		UPI000016101F	0	NA	ENST00000341747		ENSG00000188368	33728		72	0		HGNC	p.L305F		PRR19		SNV							ENST00000499536	protein_coding	getma.org/?cm=var&var=hg19,19,42814734,C,T&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF15455		L/F		T	neutral	1291/1530		getma.org/?cm=msa&ty=f&p=PRR19_HUMAN&rb=1&re=354&var=L305F	tolerated(0.06)	M0QXP7_HUMAN				PRR19,missense_variant,p.Leu305Phe,ENST00000499536,;PRR19,missense_variant,p.Leu305Phe,ENST00000341747,NM_199285.2;PRR19,3_prime_UTR_variant,,ENST00000598490,;TMEM145,upstream_gene_variant,,ENST00000598766,;TMEM145,upstream_gene_variant,,ENST00000301204,NM_173633.2;PRR19,downstream_gene_variant,,ENST00000595750,;TMEM145,upstream_gene_variant,,ENST00000601020,;TMEM145,upstream_gene_variant,,ENST00000595775,;							MODERATE	913/1071	L305F	PRR19_HUMAN			Transcript		benign(0.116)	.	ENSP00000342709		CCDS33036.1			1	
FAP	0	LGGM	GRCh37	2	163039961	163039961	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	58	17	.	.	ENST00000188790.4:c.1832G>T	p.Gly611Val	p.G611V	ENST00000188790	NM_004460.2	611	gGt/gTt	0	1	1	UPI00000012A2	0	getma.org/pdb.php?prot=SEPR_HUMAN&from=553&to=759&var=G611V	ENST00000188790		ENSG00000078098	3590		75	2.98		HGNC	p.G586V		FAP		SNV							ENST00000443424	protein_coding	getma.org/?cm=var&var=hg19,2,163039961,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00326,PROSITE_patterns:PS00708,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Superfamily_domains:SSF53474		G/V		A	medium	2040/2780		getma.org/?cm=msa&ty=f&p=SEPR_HUMAN&rb=553&re=759&var=G611V	deleterious(0.01)	C9J131_HUMAN			YES	FAP,missense_variant,p.Gly611Val,ENST00000188790,NM_004460.2;FAP,missense_variant,p.Gly586Val,ENST00000443424,;FAP,3_prime_UTR_variant,,ENST00000422436,;FAP,non_coding_transcript_exon_variant,,ENST00000461506,;FAP,downstream_gene_variant,,ENST00000497414,;							MODERATE	1832/2283	G611V	SEPR_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000188790		CCDS33311.1			1	
PRDM15	0	LGGM	GRCh37	21	43248602	43248602	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	110	19	.	.	ENST00000269844.3:c.2552A>T	p.Lys851Met	p.K851M	ENST00000269844	NM_022115.3	851	aAg/aTg	0	1	1	UPI0000456FFA	0	getma.org/pdb.php?prot=PRD15_HUMAN&from=849&to=852&var=K851M	ENST00000269844		ENSG00000141956	13999		129	2.35		HGNC	p.R525X		PRDM15		SNV							ENST00000449395	protein_coding	getma.org/?cm=var&var=hg19,21,43248602,T,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF6,hmmpanther:PTHR24387,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		K/M		A	medium	2663/4710		getma.org/?cm=msa&ty=f&p=PRD15_HUMAN&rb=819&re=882&var=K851M	deleterious(0)				YES	PRDM15,missense_variant,p.Lys542Met,ENST00000422911,NM_001282934.1;PRDM15,missense_variant,p.Lys505Met,ENST00000538201,;PRDM15,missense_variant,p.Lys522Met,ENST00000398548,NM_001040424.1;PRDM15,missense_variant,p.Lys485Met,ENST00000447207,;PRDM15,missense_variant,p.Lys851Met,ENST00000269844,NM_022115.3;PRDM15,non_coding_transcript_exon_variant,,ENST00000491486,;PRDM15,downstream_gene_variant,,ENST00000496124,;PRDM15,stop_gained,p.Arg525Ter,ENST00000449395,;PRDM15,stop_gained,p.Arg448Ter,ENST00000441787,;PRDM15,missense_variant,p.Lys851Met,ENST00000433067,;PRDM15,missense_variant,p.Lys485Met,ENST00000447016,;PRDM15,non_coding_transcript_exon_variant,,ENST00000489661,;							MODERATE	2552/4524	K851M	PRD15_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000269844		CCDS13676.1			1	
TET3	0	LGGM	GRCh37	2	74275243	74275243	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	60	19	.	.	ENST00000409262.3:c.1794G>T	p.Gln598His	p.Q598H	ENST00000409262	NM_144993.1	598	caG/caT	0	1	1	UPI0000DD79F5	0	NA	ENST00000409262		ENSG00000187605	28313		79	0.805		HGNC	p.Q598H		TET3		SNV							ENST00000409262	protein_coding	getma.org/?cm=var&var=hg19,2,74275243,G,T&fts=all		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4		Q/H		T	low	1794/10983		getma.org/?cm=msa&ty=f&p=TET3_HUMAN&rb=401&re=600&var=Q598H	tolerated(0.07)	K9JJH7_HUMAN			YES	TET3,missense_variant,p.Gln598His,ENST00000409262,NM_144993.1,NM_001287491.1;TET3,missense_variant,p.Gln640His,ENST00000305799,;TET3,non_coding_transcript_exon_variant,,ENST00000475405,;							MODERATE	1794/4983	Q598H	TET3_HUMAN			Transcript		possibly_damaging(0.525)	.	ENSP00000386869		CCDS46339.1			1	
MKI67	0	LGGM	GRCh37	10	129904223	129904223	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	113	20	.	.	ENST00000368654.3:c.5881T>C	p.Phe1961Leu	p.F1961L	ENST00000368654	NM_002417.4	1961	Ttc/Ctc	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		133	1.39		HGNC	p.F1601L		MKI67		SNV							ENST00000368653	protein_coding	getma.org/?cm=var&var=hg19,10,129904223,A,G&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065		F/L		G	low	6257/12678		getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=1854&re=1965&var=F1961L	deleterious(0.01)				YES	MKI67,missense_variant,p.Phe1961Leu,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Phe1601Leu,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;							MODERATE	5881/9771	F1961L	KI67_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000357643		CCDS7659.1			1	
AIM1	0	LGGM	GRCh37	6	106969000	106969000	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	84	20	.	.	ENST00000369066.3:c.2693A>T	p.Asp898Val	p.D898V	ENST00000369066	NM_001624.2	898	gAc/gTc	0	1	1	UPI000013C91D	0	NA	ENST00000369066		ENSG00000112297	356		104	0		HGNC	p.D898V		AIM1		SNV							ENST00000369066	protein_coding	getma.org/?cm=var&var=hg19,6,106969000,A,T&fts=all		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2		D/V		T	neutral	3180/7544		getma.org/?cm=msa&ty=f&p=AIM1_HUMAN&rb=887&re=1022&var=D898V	tolerated(0.28)	B3KPT0_HUMAN			YES	AIM1,missense_variant,p.Asp898Val,ENST00000369066,NM_001624.2;							MODERATE	2693/5172	D898V	AIM1_HUMAN			Transcript		benign(0.008)	.	ENSP00000358062		CCDS34506.1			1	
ARNT2	0	LGGM	GRCh37	15	80806741	80806741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	108	20	.	.	ENST00000303329.4:c.872C>A	p.Pro291Gln	p.P291Q	ENST00000303329	NM_014862.3	291	cCa/cAa	0	1	1	UPI00001FEA05	0	NA	ENST00000303329		ENSG00000172379	16876		128	2.665		HGNC	p.P280Q		ARNT2		SNV			1				ENST00000527771	protein_coding	getma.org/?cm=var&var=hg19,15,80806741,C,A&fts=all		Prints_domain:PR00785,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6		P/Q		A	medium	1037/6558		getma.org/?cm=msa&ty=f&p=ARNT2_HUMAN&rb=245&re=346&var=P291Q	deleterious(0)	H0YKW1_HUMAN			YES	ARNT2,missense_variant,p.Pro280Gln,ENST00000533983,;ARNT2,missense_variant,p.Pro291Gln,ENST00000303329,NM_014862.3;ARNT2,missense_variant,p.Pro280Gln,ENST00000527771,;ARNT2,missense_variant,p.Pro65Gln,ENST00000525103,;							MODERATE	872/2154	P291Q	ARNT2_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000307479		CCDS32307.1			1	
SUCLG2	0	LGGM	GRCh37	3	67568727	67568727	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	57	21	.	.	ENST00000493112.1:c.604A>T	p.Ser202Cys	p.S202C	ENST00000493112	NM_001177599.1	202	Agc/Tgc	0	1		UPI0000209977	0	getma.org/pdb.php?prot=SUCB2_HUMAN&from=39&to=247&var=S202C	ENST00000307227		ENSG00000172340	11450		78	1.455		HGNC	p.S202C		SUCLG2		SNV							ENST00000307227	protein_coding	getma.org/?cm=var&var=hg19,3,67568727,T,A&fts=all		Superfamily_domains:SSF56059,PIRSF_domain:PIRSF001554,Pfam_domain:PF08442,Gene3D:3.30.470.20,TIGRFAM_domain:TIGR01016,hmmpanther:PTHR11815		S/C		A	low	632/2352		getma.org/?cm=msa&ty=f&p=SUCB2_HUMAN&rb=39&re=247&var=S202C	deleterious(0.03)	Q3ZCW5_HUMAN				SUCLG2,missense_variant,p.Ser202Cys,ENST00000307227,NM_003848.3;SUCLG2,missense_variant,p.Ser94Cys,ENST00000460567,;SUCLG2,missense_variant,p.Ser202Cys,ENST00000493112,NM_001177599.1;SUCLG2,missense_variant,p.Ser202Cys,ENST00000492795,;NDUFB4P1,downstream_gene_variant,,ENST00000462398,;							MODERATE	604/1299	S202C	SUCB2_HUMAN			Transcript		benign(0.018)	.	ENSP00000307432		CCDS43104.1			1	
PDE1C	0	LGGM	GRCh37	7	31793029	31793029	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	180	21	.	.	ENST00000396193.1:c.2279A>T	p.Gln760Leu	p.Q760L	ENST00000396193	NM_001191058.1	760	cAg/cTg	0	1		UPI0000127BE9	0	NA	ENST00000321453		ENSG00000154678	8776		201	0.805		HGNC	p.Q700L		PDE1C		SNV							ENST00000321453	protein_coding	getma.org/?cm=var&var=hg19,7,31793029,T,A&fts=all				Q/L		A	low	2559/2898		getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=521&re=707&var=Q700L	deleterious_low_confidence(0)	Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,missense_variant,p.Gln760Leu,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Gln700Leu,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Gln700Leu,ENST00000321453,NM_001191059.1;							MODERATE	2099/2130	Q700L	PDE1C_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000318105		CCDS55099.1			1	
OR10J3	0	LGGM	GRCh37	1	159283757	159283757	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	44	22	.	.	ENST00000332217.5:c.693A>T	p.Ser231=	p.S231=	ENST00000332217	NM_001004467.1	231	tcA/tcT	0	1	1	UPI0000441EEF	0		ENST00000332217		ENSG00000196266	14992		66			HGNC	p.S231S		OR10J3		SNV							ENST00000332217	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321		S		A		693/990							YES	OR10J3,synonymous_variant,p.=,ENST00000332217,NM_001004467.1;							LOW	693/990		O10J3_HUMAN			Transcript			.	ENSP00000331789		CCDS30909.1			1	
REV3L	0	LGGM	GRCh37	6	111694980	111694980	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	114	22	.	.	ENST00000358835.3:c.4578A>G	p.Gly1526=	p.G1526=	ENST00000358835		1526	ggA/ggG	0	1	1	UPI0000140023	0		ENST00000358835		ENSG00000009413	9968		136			HGNC	p.G1526G		REV3L		SNV							ENST00000358835	protein_coding			hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		G		C		5033/10789				Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,synonymous_variant,p.=,ENST00000435970,NM_001286432.1;REV3L,synonymous_variant,p.=,ENST00000358835,;REV3L,synonymous_variant,p.=,ENST00000368802,NM_002912.3;REV3L,synonymous_variant,p.=,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							LOW	4578/9393		DPOLZ_HUMAN			Transcript			.	ENSP00000351697		CCDS5091.2			1	
GUCY1A2	0	LGGM	GRCh37	11	106810701	106810701	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	37	22	.	.	ENST00000282249.2:c.691C>T	p.Pro231Ser	p.P231S	ENST00000282249	NM_001256424.1	231	Cct/Tct	0	1		UPI0000128C17	0	NA	ENST00000526355		ENSG00000152402	4684		59	0.485		HGNC	p.P231S	rs765178829	GUCY1A2		SNV							ENST00000282249	protein_coding	getma.org/?cm=var&var=hg19,11,106810701,G,A&fts=all		Gene3D:3sj5A00,Pfam_domain:PF07700,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276,Superfamily_domains:SSF111126		P/S		A	neutral	1160/16205	7.49E-05	getma.org/?cm=msa&ty=f&p=GCYA2_HUMAN&rb=113&re=276&var=P231S	tolerated(0.38)					GUCY1A2,missense_variant,p.Pro231Ser,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.Pro231Ser,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.Pro231Ser,ENST00000347596,;							MODERATE	691/2199	P231S	GCYA2_HUMAN			Transcript		benign(0.111)	.	ENSP00000431245	4.12E-05	CCDS8335.1			1	
GDA	0	LGGM	GRCh37	9	74840692	74840692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	49	25	.	.	ENST00000238018.4:c.814A>T	p.Thr272Ser	p.T272S	ENST00000238018		272	Aca/Tca	0	1		UPI000012BD83	0	getma.org/pdb.php?prot=GUAD_HUMAN&from=73&to=401&var=T272S	ENST00000358399		ENSG00000119125	4212		74	2.13		HGNC	p.T138S		GDA		SNV							ENST00000414671	protein_coding	getma.org/?cm=var&var=hg19,9,74840692,A,T&fts=all		Superfamily_domains:SSF51556,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02967,Gene3D:3.20.20.140,hmmpanther:PTHR11271:SF6,hmmpanther:PTHR11271		T/S		T	medium	907/5340		getma.org/?cm=msa&ty=f&p=GUAD_HUMAN&rb=73&re=401&var=T272S	tolerated(0.15)	B4DIP8_HUMAN,B3KUM3_HUMAN				GDA,missense_variant,p.Thr272Ser,ENST00000358399,NM_001242506.2,NM_001242505.2,NM_004293.4;GDA,missense_variant,p.Thr194Ser,ENST00000376986,;GDA,missense_variant,p.Thr272Ser,ENST00000238018,;GDA,missense_variant,p.Thr198Ser,ENST00000545168,NM_001242507.2;GDA,missense_variant,p.Thr211Ser,ENST00000376989,;GDA,missense_variant,p.Thr138Ser,ENST00000414671,;GDA,upstream_gene_variant,,ENST00000436438,;GDA,non_coding_transcript_exon_variant,,ENST00000477618,;GDA,missense_variant,p.Thr272Ser,ENST00000475764,;GDA,upstream_gene_variant,,ENST00000489618,;							MODERATE	814/1365	T272S	GUAD_HUMAN			Transcript		benign(0.232)	.	ENSP00000351170		CCDS6641.1			1	
SMCP	0	LGGM	GRCh37	1	152857101	152857101	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	108	25	.	.	ENST00000368765.3:c.203A>T	p.Gln68Leu	p.Q68L	ENST00000368765	NM_030663.2	68	cAg/cTg	0	1	1	UPI000012EDEB	0	NA	ENST00000368765		ENSG00000163206	6962		133	1.04		HGNC	p.Q68L		SMCP		SNV							ENST00000368765	protein_coding	getma.org/?cm=var&var=hg19,1,152857101,A,T&fts=all				Q/L		T	low	353/775		getma.org/?cm=msa&ty=f&p=MCSP_HUMAN&rb=1&re=115&var=Q68L	tolerated(0.29)	Q5T7P5_HUMAN			YES	SMCP,missense_variant,p.Gln68Leu,ENST00000368765,NM_030663.2;							MODERATE	203/351	Q68L	MCSP_HUMAN			Transcript		benign(0.005)	.	ENSP00000357754		CCDS1029.1			1	
ARHGAP42	0	LGGM	GRCh37	11	100846797	100846797	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	84	26	.	.	ENST00000298815.8:c.1865A>G	p.Tyr622Cys	p.Y622C	ENST00000298815	NM_152432.2	622	tAt/tGt	0	1	1	UPI00005778C9	0	NA	ENST00000298815		ENSG00000165895	26545		110	1.445		HGNC	p.Y588C		ARHGAP42		SNV							ENST00000524892	protein_coding	getma.org/?cm=var&var=hg19,11,100846797,A,G&fts=all		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF3,Low_complexity_(Seg):seg		Y/C		G	low	1868/4752		getma.org/?cm=msa&ty=f&p=RHG42_HUMAN&rb=601&re=809&var=Y622C	tolerated(0.17)	H0YDU1_HUMAN			YES	ARHGAP42,missense_variant,p.Tyr588Cys,ENST00000524892,;ARHGAP42,missense_variant,p.Tyr622Cys,ENST00000298815,NM_152432.2;ARHGAP42,missense_variant,p.Tyr246Cys,ENST00000529535,;							MODERATE	1865/2625	Y622C	RHG42_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000298815					1	
HIST1H2BB	0	LGGM	GRCh37	6	26043688	26043688	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060616	H060616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	105	27	.	.	ENST00000357905.2:c.198C>T	p.Phe66=	p.F66=	ENST00000357905	NM_021062.2	66	ttC/ttT	0	1	1	UPI0000001BD2	0		ENST00000357905		ENSG00000196226	4751		132			HGNC	p.F66F	rs780141769	HIST1H2BB	6.06E-05	SNV							ENST00000357905	protein_coding			hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621		F		A		198/431							YES	HIST1H2BB,synonymous_variant,p.=,ENST00000357905,NM_021062.2;HIST1H3C,upstream_gene_variant,,ENST00000540144,NM_003531.2;U91328.2,upstream_gene_variant,,ENST00000454320,;							LOW	198/381		H2B1B_HUMAN			Transcript			.	ENSP00000350580	8.24E-06	CCDS4575.1			1	
NAMPTL	0	LGGM	GRCh37	10	36812557	36812557	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	100	29	.	.	ENST00000440465.1:c.606A>T	p.Val202=	p.V202=	ENST00000440465		202	gtA/gtT	0	1	1	UPI00004701B5	0		ENST00000440465		ENSG00000229644	17633		129			HGNC	p.V202V		NAMPTL		SNV							ENST00000440465	protein_coding			hmmpanther:PTHR11098:SF2,hmmpanther:PTHR11098,Pfam_domain:PF04095,Gene3D:3.20.140.10,PIRSF_domain:PIRSF005943,Superfamily_domains:SSF51690		V		A		606/2514				Q658Z1_HUMAN,Q5SYT8_HUMAN,F5H246_HUMAN			YES	NAMPTL,synonymous_variant,p.=,ENST00000440465,;NAMPTL,upstream_gene_variant,,ENST00000543053,;							LOW	606/1419					Transcript			.	ENSP00000407952					1	
RASSF9	0	LGGM	GRCh37	12	86198659	86198659	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060616	H060616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	105	33	.	.	ENST00000361228.3:c.1129T>A	p.Leu377Ile	p.L377I	ENST00000361228	NM_005447.3	377	Tta/Ata	0	1	1	UPI000003E7E4	0	NA	ENST00000361228		ENSG00000198774	15739		138	0.69		HGNC	p.L377I		RASSF9		SNV							ENST00000361228	protein_coding	getma.org/?cm=var&var=hg19,12,86198659,A,T&fts=all		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10		L/I		T	neutral	1498/1826		getma.org/?cm=msa&ty=f&p=RASF9_HUMAN&rb=367&re=435&var=L377I	tolerated(0.28)				YES	RASSF9,missense_variant,p.Leu377Ile,ENST00000361228,NM_005447.3;							MODERATE	1129/1308	L377I	RASF9_HUMAN			Transcript		benign(0.006)	.	ENSP00000354884		CCDS44950.1			1	
OR52I1	0	LGGM	GRCh37	11	4616038	4616038	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	90	35	.	.	ENST00000530443.2:c.770T>A	p.Leu257Gln	p.L257Q	ENST00000530443	NM_001005169.1	257	cTa/cAa	0	1	1	UPI0000046AE5	0	getma.org/pdb.php?prot=O52I1_HUMAN&from=45&to=297&var=L257Q	ENST00000530443		ENSG00000232268	15220		125	2.95		HGNC	p.L257Q		OR52I1		SNV							ENST00000530443	protein_coding	getma.org/?cm=var&var=hg19,11,4616038,T,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF86,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		L/Q		A	medium	770/975		getma.org/?cm=msa&ty=f&p=O52I1_HUMAN&rb=45&re=297&var=L257Q	deleterious(0)				YES	OR52I1,missense_variant,p.Leu281Gln,ENST00000450052,;OR52I1,missense_variant,p.Leu257Gln,ENST00000530443,NM_001005169.1;TRIM68,downstream_gene_variant,,ENST00000300747,NM_018073.6;TRIM68,downstream_gene_variant,,ENST00000531101,;							MODERATE	770/975	L257Q	O52I1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000436453		CCDS59223.1			1	
ITGA8	0	LGGM	GRCh37	10	15649746	15649746	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060616	H060616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	131	35	.	.	ENST00000378076.3:c.1694A>T	p.His565Leu	p.H565L	ENST00000378076	NM_003638.1	565	cAt/cTt	0	1	1	UPI00001D80A0	0	getma.org/pdb.php?prot=ITA8_HUMAN&from=483&to=934&var=H565L	ENST00000378076		ENSG00000077943	6144		166	1.155		HGNC	p.H565L		ITGA8		SNV			1				ENST00000378076	protein_coding	getma.org/?cm=var&var=hg19,10,15649746,T,A&fts=all		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69179		H/L		A	low	2048/6755		getma.org/?cm=msa&ty=f&p=ITA8_HUMAN&rb=483&re=934&var=H565L	tolerated(0.7)				YES	ITGA8,missense_variant,p.His565Leu,ENST00000378076,NM_003638.1;ITGA8,upstream_gene_variant,,ENST00000477064,;ITGA8,downstream_gene_variant,,ENST00000468882,;							MODERATE	1694/3192	H565L	ITA8_HUMAN			Transcript		benign(0.41)	.	ENSP00000367316		CCDS31155.1			1	
SCAF4	0	LGGM	GRCh37	21	33043712	33043712	+	stop_lost	Nonstop_Mutation	SNP	C	C	G	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	10	2	.	.	ENST00000286835.7:c.3444G>C	p.Ter1148TyrextTer8	p.*1148Yext*8	ENST00000286835	NM_020706.2	1148	taG/taC	0	1	1	UPI0000206D66	0		ENST00000286835		ENSG00000156304	19304		12			HGNC	p.X1126Y		SCAF4		SNV							ENST00000399804	protein_coding					*/Y		G		3827/4193				Q0P607_HUMAN			YES	SCAF4,stop_lost,p.Ter1148TyrextTer8,ENST00000286835,NM_020706.2;SCAF4,stop_lost,p.Ter1126TyrextTer8,ENST00000399804,NM_001145445.1;SCAF4,stop_lost,p.Ter1133TyrextTer8,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,;							HIGH	3444/3444		SFR15_HUMAN			Transcript			.	ENSP00000286835		CCDS33537.1			1	
KIAA1033	0	LGGM	GRCh37	12	105558483	105558483	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	18	2	.	.	ENST00000332180.5:c.3419C>A	p.Ala1140Glu	p.A1140E	ENST00000332180	NM_015275.1	1140	gCg/gAg	0	1	1	UPI00001C1F3B	0	NA	ENST00000332180		ENSG00000136051	29174		20	2.08		HGNC	p.A1140E	rs199807811	KIAA1033		SNV	T:0.0003		1				ENST00000332180	protein_coding	getma.org/?cm=var&var=hg19,12,105558483,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0		A/E	T:0	A	medium	3506/5812	1.72E-05	getma.org/?cm=msa&ty=f&p=WASH7_HUMAN&rb=1001&re=1173&var=A1140E	deleterious(0.02)	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN			YES	KIAA1033,missense_variant,p.Ala1140Glu,ENST00000332180,NM_015275.1;KIAA1033,downstream_gene_variant,,ENST00000551224,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000547171,;KIAA1033,downstream_gene_variant,,ENST00000551290,;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,downstream_gene_variant,,ENST00000550786,;KIAA1033,downstream_gene_variant,,ENST00000550036,;							MODERATE	3419/3522	A1140E	WASH7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000328062	8.28E-06	CCDS41826.1			1	
ITGA3	0	LGGM	GRCh37	17	48154414	48154414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	14	2	.	.	ENST00000007722.7:c.1999G>T	p.Gly667Trp	p.G667W	ENST00000007722		667	Ggg/Tgg	0	1		UPI000002AC1A	0	getma.org/pdb.php?prot=ITA3_HUMAN&from=462&to=916&var=G667W	ENST00000320031		ENSG00000005884	6139		16	2.56		HGNC	p.G667W		ITGA3		SNV			1				ENST00000007722	protein_coding	getma.org/?cm=var&var=hg19,17,48154414,G,T&fts=all		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179		G/W		T	medium	2329/4888		getma.org/?cm=msa&ty=f&p=ITA3_HUMAN&rb=462&re=916&var=G667W	deleterious(0)	B4E0H8_HUMAN				ITGA3,missense_variant,p.Gly667Trp,ENST00000320031,NM_002204.2,NM_005501.2;ITGA3,missense_variant,p.Gly667Trp,ENST00000007722,;ITGA3,missense_variant,p.Gly46Trp,ENST00000506827,;ITGA3,downstream_gene_variant,,ENST00000544892,;ITGA3,downstream_gene_variant,,ENST00000512553,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,downstream_gene_variant,,ENST00000506401,;ITGA3,downstream_gene_variant,,ENST00000505552,;ITGA3,downstream_gene_variant,,ENST00000505612,;ITGA3,upstream_gene_variant,,ENST00000515147,;ITGA3,downstream_gene_variant,,ENST00000510809,;ITGA3,upstream_gene_variant,,ENST00000507771,;ITGA3,upstream_gene_variant,,ENST00000504417,;							MODERATE	1999/3156	G667W	ITA3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315190		CCDS11558.1			1	
CD70	0	LGGM	GRCh37	19	6586340	6586340	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	11	2	.	.	ENST00000245903.3:c.273G>T	p.Leu91=	p.L91=	ENST00000245903	NM_001252.3	91	ctG/ctT	0	1	1	UPI00001370B6	0		ENST00000245903		ENSG00000125726	11937		13			HGNC	p.L91L		CD70		SNV							ENST00000245903	protein_coding			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR15152,hmmpanther:PTHR15152:SF0,SMART_domains:SM00207,Superfamily_domains:SSF49842		L		A		423/913				Q53XX4_HUMAN,M0QZW2_HUMAN			YES	CD70,synonymous_variant,p.=,ENST00000245903,NM_001252.3;CD70,synonymous_variant,p.=,ENST00000423145,;CD70,downstream_gene_variant,,ENST00000597430,;							LOW	273/582		CD70_HUMAN			Transcript			.	ENSP00000245903		CCDS12170.1			1	
APOBEC3F	0	LGGM	GRCh37	22	39441049	39441049	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	44	3	.	.	ENST00000308521.5:c.275C>A	p.Ser92Tyr	p.S92Y	ENST00000308521	NM_145298.5	92	tCc/tAc	0	1	1	UPI000016074C	0	getma.org/pdb.php?prot=ABC3F_HUMAN&from=3&to=189&var=S92Y	ENST00000308521		ENSG00000128394	17356		47	3.66		HGNC	p.S92Y		APOBEC3F		SNV							ENST00000308521	protein_coding	getma.org/?cm=var&var=hg19,22,39441049,C,A&fts=all		Superfamily_domains:SSF53927,Pfam_domain:PF08210,PROSITE_patterns:PS00903,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF24		S/Y		A	high	632/2694		getma.org/?cm=msa&ty=f&p=ABC3F_HUMAN&rb=3&re=189&var=S92Y	deleterious(0)	B4DGW8_HUMAN			YES	APOBEC3F,missense_variant,p.Ser92Tyr,ENST00000308521,NM_145298.5;APOBEC3G,intron_variant,,ENST00000452957,;APOBEC3F,downstream_gene_variant,,ENST00000381565,NM_001006666.1;APOBEC3F,non_coding_transcript_exon_variant,,ENST00000491387,;APOBEC3F,upstream_gene_variant,,ENST00000476513,;							MODERATE	275/1122	S92Y	ABC3F_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000309749		CCDS33648.1			1	
GALNT10	0	LGGM	GRCh37	5	153765960	153765960	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	25	3	.	.	ENST00000297107.6:c.1026G>T	p.Trp342Cys	p.W342C	ENST00000297107	NM_198321.3	342	tgG/tgT	0	1	1	UPI0000041292	0	getma.org/pdb.php?prot=GLT10_HUMAN&from=334&to=458&var=W342C	ENST00000297107		ENSG00000164574	19873		28	3.645		HGNC	p.W280C		GALNT10		SNV							ENST00000377661	protein_coding	getma.org/?cm=var&var=hg19,5,153765960,G,T&fts=all		Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF41,Superfamily_domains:SSF53448		W/C		T	high	1163/5961		getma.org/?cm=msa&ty=f&p=GLT10_HUMAN&rb=334&re=458&var=W342C	deleterious(0)	Q4G0E1_HUMAN,D3DQI7_HUMAN			YES	GALNT10,missense_variant,p.Trp342Cys,ENST00000297107,NM_198321.3;GALNT10,missense_variant,p.Trp342Cys,ENST00000425427,;GALNT10,missense_variant,p.Trp280Cys,ENST00000377661,;SAP30L-AS1,intron_variant,,ENST00000519727,;GALNT10,non_coding_transcript_exon_variant,,ENST00000519544,;GALNT10,3_prime_UTR_variant,,ENST00000520647,;							MODERATE	1026/1812	W342C	GLT10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297107		CCDS4325.1			1	
KMT2D	0	LGGM	GRCh37	12	49431029	49431029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	3	.	.	ENST00000301067.7:c.10110G>T	p.Gln3370His	p.Q3370H	ENST00000301067	NM_003482.3	3370	caG/caT	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		27	1.04		HGNC	p.Q3370H		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49431029,C,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Low_complexity_(Seg):seg		Q/H		A	low	10110/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=3278&re=3477&var=Q3370H		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Gln3370His,ENST00000301067,NM_003482.3;KMT2D,non_coding_transcript_exon_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000549799,;							MODERATE	10110/16614	Q3370H	KMT2D_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000301067		CCDS44873.1			1	
SIPA1L3	0	LGGM	GRCh37	19	38591771	38591771	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	5	3	.	.	ENST00000222345.6:c.1934A>T	p.Glu645Val	p.E645V	ENST00000222345	NM_015073.1	645	gAg/gTg	0	1	1	UPI00001D8160	0	getma.org/pdb.php?prot=SI1L3_HUMAN&from=640&to=828&var=E645V	ENST00000222345		ENSG00000105738	23801		8	2.025		HGNC	p.E645V		SIPA1L3		SNV							ENST00000222345	protein_coding	getma.org/?cm=var&var=hg19,19,38591771,A,T&fts=all		PROSITE_profiles:PS50085,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15,Pfam_domain:PF02145,Superfamily_domains:0043732		E/V		T	medium	2443/7987		getma.org/?cm=msa&ty=f&p=SI1L3_HUMAN&rb=640&re=828&var=E645V	tolerated(0.24)	Q8IUV1_HUMAN			YES	SIPA1L3,missense_variant,p.Glu645Val,ENST00000222345,NM_015073.1;SIPA1L3,missense_variant,p.Glu84Val,ENST00000595384,;							MODERATE	1934/5346	E645V	SI1L3_HUMAN			Transcript		benign(0.026)	.	ENSP00000222345		CCDS33007.1			1	
POM121C	0	LGGM	GRCh37	7	75050884	75050884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	20	3	.	.	ENST00000453279.2:c.2651G>T	p.Gly884Val	p.G884V	ENST00000453279	NM_001099415.2	884	gGc/gTc	0	1	1	UPI00001C1E87	0	NA	ENST00000453279		ENSG00000135213	34005	8.78E-05	23	1.78		HGNC	p.G884V	rs782477386	POM121C		SNV							ENST00000453279	protein_coding	getma.org/?cm=var&var=hg19,7,75050884,C,A&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5		G/V		A	low	3516/5839		getma.org/?cm=msa&ty=f&p=P121B_HUMAN&rb=8&re=832&var=G731V	tolerated(0.06)	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN			YES	POM121C,missense_variant,p.Gly884Val,ENST00000453279,NM_001099415.2;POM121C,missense_variant,p.Gly1126Val,ENST00000257665,;POM121C,downstream_gene_variant,,ENST00000439629,;NSUN5P1,downstream_gene_variant,,ENST00000393633,;NSUN5P1,downstream_gene_variant,,ENST00000457988,;NSUN5P1,downstream_gene_variant,,ENST00000428392,;NSUN5P1,downstream_gene_variant,,ENST00000422386,;POM121C,downstream_gene_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000476072,;POM121C,downstream_gene_variant,,ENST00000473609,;POM121C,downstream_gene_variant,,ENST00000479864,;							MODERATE	2651/2964	G731V	P121C_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000414208	8.24E-06	CCDS47617.1			1	
PHLDA1	0	LGGM	GRCh37	12	76425152	76425152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	11	3	.	.	ENST00000266671.5:c.370G>T	p.Ala124Ser	p.A124S	ENST00000266671		124	Gcg/Tcg	0	1	1	UPI000013D704	0	NA	ENST00000266671		ENSG00000139289	8933		14	0.895		HGNC	p.A124S		PHLDA1		SNV							ENST00000266671	protein_coding	getma.org/?cm=var&var=hg19,12,76425152,C,A&fts=all		Low_complexity_(Seg):seg		A/S		A	low	2561/8069		getma.org/?cm=msa&ty=f&p=PHLA1_HUMAN&rb=1&re=399&var=A124S	tolerated_low_confidence(0.1)	R4GND3_HUMAN,A2BDE7_HUMAN			YES	PHLDA1,missense_variant,p.Ala124Ser,ENST00000266671,;PHLDA1,5_prime_UTR_variant,,ENST00000602540,NM_007350.3;RP11-290L1.3,non_coding_transcript_exon_variant,,ENST00000552367,;RP11-290L1.2,upstream_gene_variant,,ENST00000547721,;							MODERATE	370/1206	A124S	PHLA1_HUMAN			Transcript		benign(0.146)	.	ENSP00000266671		CCDS31861.1			1	
SDK2	0	LGGM	GRCh37	17	71426682	71426682	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	11	3	.	.	ENST00000392650.3:c.1551C>T	p.Cys517=	p.C517=	ENST00000392650	NM_001144952.1	517	tgC/tgT	0	1	1	UPI0000E5A088	0		ENST00000392650		ENSG00000069188	19308		14			HGNC	p.C517C	rs776557649	SDK2		SNV							ENST00000388726	protein_coding			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		C		A		1552/10723	3.60E-05						YES	SDK2,synonymous_variant,p.=,ENST00000392650,NM_001144952.1;SDK2,synonymous_variant,p.=,ENST00000388726,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;							LOW	1551/6519		SDK2_HUMAN			Transcript			.	ENSP00000376421	1.65E-05	CCDS45769.1			1	
S1PR4	0	LGGM	GRCh37	19	3179677	3179677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	35	3	.	.	ENST00000246115.3:c.887C>T	p.Ala296Val	p.A296V	ENST00000246115	NM_003775.3	296	gCc/gTc	0	1	1	UPI0000050462	0	getma.org/pdb.php?prot=S1PR4_HUMAN&from=63&to=307&var=A296V	ENST00000246115		ENSG00000125910	3170		38	2.24		HGNC	p.A296V	COSM379159,COSM379160	S1PR4		SNV						1,1	ENST00000246115	protein_coding	getma.org/?cm=var&var=hg19,19,3179677,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF13,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/V		T	medium	942/1594		getma.org/?cm=msa&ty=f&p=S1PR4_HUMAN&rb=63&re=307&var=A296V	deleterious(0)				YES	S1PR4,missense_variant,p.Ala296Val,ENST00000246115,NM_003775.3;S1PR4,downstream_gene_variant,,ENST00000591346,;					1,1		MODERATE	887/1155	A296V	S1PR4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000246115		CCDS12105.1			1	
NDOR1	0	LGGM	GRCh37	9	140109953	140109953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	27	3	.	.	ENST00000371521.4:c.1268C>A	p.Ala423Glu	p.A423E	ENST00000371521	NM_001144026.1	423	gCa/gAa	0	1		UPI0000070389	0	getma.org/pdb.php?prot=NDOR1_HUMAN&from=206&to=447&var=A423E	ENST00000344894		ENSG00000188566	29838		30	2.69		HGNC	p.A416E		NDOR1		SNV							ENST00000458322	protein_coding	getma.org/?cm=var&var=hg19,9,140109953,C,A&fts=all		HAMAP:MF_03178,PROSITE_profiles:PS51384,hmmpanther:PTHR19384:SF10,hmmpanther:PTHR19384,Gene3D:2.40.30.10,Superfamily_domains:SSF63380,Prints_domain:PR00371		A/E		A	medium	1351/2470		getma.org/?cm=msa&ty=f&p=NDOR1_HUMAN&rb=206&re=447&var=A423E	deleterious(0.02)					NDOR1,missense_variant,p.Ala423Glu,ENST00000371521,NM_001144026.1;NDOR1,missense_variant,p.Ala423Glu,ENST00000344894,NM_001144028.1,NM_014434.2;NDOR1,missense_variant,p.Ala389Glu,ENST00000427047,NM_001144027.1;NDOR1,missense_variant,p.Ala416Glu,ENST00000458322,;RNF208,downstream_gene_variant,,ENST00000392827,;RNF208,downstream_gene_variant,,ENST00000391553,NM_031297.4;							MODERATE	1268/1794	A423E	NDOR1_HUMAN			Transcript		possibly_damaging(0.49)	.	ENSP00000343344		CCDS7036.1			1	
KTN1	0	LGGM	GRCh37	14	56139730	56139730	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	39	3	.	.	ENST00000395314.3:c.3687G>T	p.Glu1229Asp	p.E1229D	ENST00000395314	NM_001079521.1	1229	gaG/gaT	0	1	1	UPI0000190F88	0	NA	ENST00000395314		ENSG00000126777	6467		42	1.995		HGNC	p.E1206D		KTN1		SNV							ENST00000395311	protein_coding	getma.org/?cm=var&var=hg19,14,56139730,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18864		E/D		T	medium	3755/4618		getma.org/?cm=msa&ty=f&p=KTN1_HUMAN&rb=1124&re=1270&var=E1229D	deleterious(0)	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,missense_variant,p.Glu1229Asp,ENST00000416613,;KTN1,missense_variant,p.Glu1229Asp,ENST00000395314,NM_001079521.1;KTN1,missense_variant,p.Glu1206Asp,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,missense_variant,p.Glu1206Asp,ENST00000395311,;KTN1,missense_variant,p.Glu1200Asp,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Glu1229Asp,ENST00000395309,;KTN1,missense_variant,p.Glu1206Asp,ENST00000395308,;KTN1,missense_variant,p.Glu495Asp,ENST00000554507,;KTN1,missense_variant,p.Glu234Asp,ENST00000555573,;KTN1,missense_variant,p.Glu28Asp,ENST00000554294,;KTN1,downstream_gene_variant,,ENST00000553624,;KTN1,missense_variant,p.Glu1229Asp,ENST00000459737,;KTN1,splice_region_variant,,ENST00000334975,;KTN1,splice_region_variant,,ENST00000555172,;KTN1,non_coding_transcript_exon_variant,,ENST00000556631,;KTN1,non_coding_transcript_exon_variant,,ENST00000555506,;KTN1,upstream_gene_variant,,ENST00000554831,;							MODERATE	3687/4074	E1229D	KTN1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000378725		CCDS41957.1			1	
XPO4	0	LGGM	GRCh37	13	21417176	21417176	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	9	4	.	.	ENST00000255305.6:c.585T>A	p.Leu195=	p.L195=	ENST00000255305		195	ctT/ctA	0	1	1	UPI0000139018	0		ENST00000255305		ENSG00000132953	17796		13			HGNC	p.L195L		XPO4		SNV							ENST00000255305	protein_coding			hmmpanther:PTHR12596:SF1,hmmpanther:PTHR12596,Superfamily_domains:SSF48371		L		T		657/8375				Q8IVQ8_HUMAN,Q0VG75_HUMAN			YES	XPO4,synonymous_variant,p.=,ENST00000400602,NM_022459.4;XPO4,synonymous_variant,p.=,ENST00000255305,;							LOW	585/3456		XPO4_HUMAN			Transcript			.	ENSP00000255305		CCDS41872.1			1	
CENPT	0	LGGM	GRCh37	16	67864413	67864413	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	11	4	.	.	ENST00000562787.1:c.742A>G	p.Met248Val	p.M248V	ENST00000562787	NM_025082.3	248	Atg/Gtg	0	1		UPI00001C1CDE	0	NA	ENST00000440851		ENSG00000102901	25787		15	0		HGNC	p.M248V		CENPT		SNV							ENST00000440851	protein_coding	getma.org/?cm=var&var=hg19,16,67864413,T,C&fts=all		Pfam_domain:PF15511,hmmpanther:PTHR14857		M/V		C	neutral	1150/2202		getma.org/?cm=msa&ty=f&p=CENPT_HUMAN&rb=1&re=559&var=M248V	tolerated(0.27)	H3BQ71_HUMAN,H3BMP6_HUMAN				CENPT,missense_variant,p.Met248Val,ENST00000562787,NM_025082.3;CENPT,missense_variant,p.Met248Val,ENST00000440851,;CENPT,missense_variant,p.Met248Val,ENST00000219172,;CENPT,missense_variant,p.Met248Val,ENST00000564817,;CENPT,missense_variant,p.Met190Val,ENST00000566758,;TSNAXIP1,downstream_gene_variant,,ENST00000388833,NM_018430.2;TSNAXIP1,downstream_gene_variant,,ENST00000415766,;TSNAXIP1,downstream_gene_variant,,ENST00000561639,;TSNAXIP1,downstream_gene_variant,,ENST00000431934,;CENPT,downstream_gene_variant,,ENST00000445712,;CENPT,downstream_gene_variant,,ENST00000561593,;CENPT,downstream_gene_variant,,ENST00000565114,;CENPT,downstream_gene_variant,,ENST00000567985,;CENPT,non_coding_transcript_exon_variant,,ENST00000562947,;CENPT,downstream_gene_variant,,ENST00000564144,;CENPT,downstream_gene_variant,,ENST00000567482,;CENPT,downstream_gene_variant,,ENST00000565385,;CENPT,downstream_gene_variant,,ENST00000564346,;CENPT,downstream_gene_variant,,ENST00000568652,;CENPT,downstream_gene_variant,,ENST00000569094,;CENPT,downstream_gene_variant,,ENST00000565436,;CENPT,downstream_gene_variant,,ENST00000568765,;CENPT,downstream_gene_variant,,ENST00000569019,;CENPT,downstream_gene_variant,,ENST00000564538,;CENPT,downstream_gene_variant,,ENST00000565132,;CENPT,3_prime_UTR_variant,,ENST00000562513,;CENPT,non_coding_transcript_exon_variant,,ENST00000569862,;CENPT,non_coding_transcript_exon_variant,,ENST00000564128,;CENPT,non_coding_transcript_exon_variant,,ENST00000565157,;CENPT,non_coding_transcript_exon_variant,,ENST00000436104,;CENPT,non_coding_transcript_exon_variant,,ENST00000563885,;TSNAXIP1,intron_variant,,ENST00000565558,;TSNAXIP1,downstream_gene_variant,,ENST00000568990,;TSNAXIP1,downstream_gene_variant,,ENST00000466164,;TSNAXIP1,downstream_gene_variant,,ENST00000487120,;TSNAXIP1,downstream_gene_variant,,ENST00000569504,;TSNAXIP1,downstream_gene_variant,,ENST00000565339,;CENPT,upstream_gene_variant,,ENST00000568495,;CENPT,downstream_gene_variant,,ENST00000562462,;CENPT,upstream_gene_variant,,ENST00000574569,;CENPT,downstream_gene_variant,,ENST00000565713,;CENPT,downstream_gene_variant,,ENST00000562483,;CENPT,downstream_gene_variant,,ENST00000566067,;CENPT,downstream_gene_variant,,ENST00000562338,;CENPT,downstream_gene_variant,,ENST00000568564,;CENPT,downstream_gene_variant,,ENST00000568069,;							MODERATE	742/1686	M248V	CENPT_HUMAN			Transcript		benign(0.002)	.	ENSP00000400140		CCDS42182.1			1	
CYP26B1	0	LGGM	GRCh37	2	72362405	72362405	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	20	4	.	.	ENST00000001146.2:c.573C>T	p.Arg191=	p.R191=	ENST00000001146	NM_019885.3	191	cgC/cgT	0	1	1	UPI000003DC62	0		ENST00000001146		ENSG00000003137	20581		24			HGNC	p.R191R		CYP26B1		SNV			1				ENST00000001146	protein_coding			hmmpanther:PTHR24288,hmmpanther:PTHR24288:SF9,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		R		A		777/4732				E7ER08_HUMAN			YES	CYP26B1,synonymous_variant,p.=,ENST00000001146,NM_019885.3;CYP26B1,synonymous_variant,p.=,ENST00000546307,NM_001277742.1;CYP26B1,synonymous_variant,p.=,ENST00000474509,;CYP26B1,5_prime_UTR_variant,,ENST00000412253,;CYP26B1,downstream_gene_variant,,ENST00000461519,;							LOW	573/1539		CP26B_HUMAN			Transcript			.	ENSP00000001146		CCDS1919.1			1	
CCL22	0	LGGM	GRCh37	16	57394467	57394467	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	18	4	.	.	ENST00000219235.4:c.192C>T	p.Gly64=	p.G64=	ENST00000219235	NM_002990.4	64	ggC/ggT	0	1	1	UPI0000167BCE	0		ENST00000219235		ENSG00000102962	10621		22			HGNC	p.G64G	rs767198881	CCL22		SNV							ENST00000219235	protein_coding			hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF85,PROSITE_patterns:PS00472,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117		G		T		237/2929	4.51E-05						YES	CCL22,synonymous_variant,p.=,ENST00000219235,NM_002990.4;							LOW	192/282		CCL22_HUMAN			Transcript			.	ENSP00000219235	2.47E-05	CCDS10778.1			1	
STAMBP	0	LGGM	GRCh37	2	74058011	74058011	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	18	4	.	.	ENST00000394070.2:c.28C>T	p.Pro10Ser	p.P10S	ENST00000394070	NM_213622.2	10	Ccg/Tcg	0	1		UPI0000038DA0	0	getma.org/pdb.php?prot=STABP_HUMAN&from=1&to=200&var=P10S	ENST00000339566		ENSG00000124356	16950		22	0.18		HGNC	p.P10S	rs761813085	STAMBP		SNV			1				ENST00000424659	protein_coding	getma.org/?cm=var&var=hg19,2,74058011,C,T&fts=all		hmmpanther:PTHR12947,hmmpanther:PTHR12947:SF8		P/S		T	neutral	78/1949	1.51E-05	getma.org/?cm=msa&ty=f&p=STABP_HUMAN&rb=1&re=200&var=P10S	tolerated(1)	C9JZ93_HUMAN,C9JK83_HUMAN,C9JEK5_HUMAN				STAMBP,missense_variant,p.Pro10Ser,ENST00000394070,NM_213622.2;STAMBP,missense_variant,p.Pro10Ser,ENST00000394073,NM_006463.4;STAMBP,missense_variant,p.Pro10Ser,ENST00000339566,NM_201647.2;STAMBP,missense_variant,p.Pro10Ser,ENST00000409707,;STAMBP,missense_variant,p.Pro10Ser,ENST00000432295,;STAMBP,missense_variant,p.Pro10Ser,ENST00000536064,;STAMBP,missense_variant,p.Pro10Ser,ENST00000424659,;STAMBP,missense_variant,p.Pro10Ser,ENST00000452725,;							MODERATE	28/1275	P10S	STABP_HUMAN			Transcript		benign(0.002)	.	ENSP00000344742	8.24E-06	CCDS1929.1			1	
IFRD1	0	LGGM	GRCh37	7	112096113	112096113	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	56	4	.	.	ENST00000403825.3:c.256G>A	p.Gly86Arg	p.G86R	ENST00000403825	NM_001550.3	86	Gga/Aga	0	1		UPI00000304DC	0	NA	ENST00000005558		ENSG00000006652	5456		60	1.7		HGNC	p.G36R		IFRD1		SNV			1				ENST00000535603	protein_coding	getma.org/?cm=var&var=hg19,7,112096113,G,A&fts=all		Superfamily_domains:SSF48371,Pfam_domain:PF05004,Gene3D:1.25.10.10,hmmpanther:PTHR12354:SF6,hmmpanther:PTHR12354		G/R		A	low	726/1834		getma.org/?cm=msa&ty=f&p=IFRD1_HUMAN&rb=42&re=347&var=G86R	tolerated(0.11)	A4D0U1_HUMAN,Q75MS4_HUMAN,Q75M99_HUMAN,Q75M98_HUMAN,E9PMY4_HUMAN,C9JNM6_HUMAN,C9JLG5_HUMAN,C9JFH1_HUMAN,C9J7U6_HUMAN,C9J311_HUMAN,B7Z4L0_HUMAN				IFRD1,missense_variant,p.Gly86Arg,ENST00000403825,NM_001550.3;IFRD1,missense_variant,p.Gly86Arg,ENST00000429071,;IFRD1,missense_variant,p.Gly86Arg,ENST00000005558,NM_001007245.2,NM_001197080.1;IFRD1,missense_variant,p.Gly36Arg,ENST00000535603,NM_001197079.1;IFRD1,missense_variant,p.Gly36Arg,ENST00000440625,;IFRD1,missense_variant,p.Gly36Arg,ENST00000476927,;IFRD1,missense_variant,p.Gly36Arg,ENST00000443101,;IFRD1,downstream_gene_variant,,ENST00000445335,;IFRD1,upstream_gene_variant,,ENST00000486688,;IFRD1,upstream_gene_variant,,ENST00000466459,;							MODERATE	256/1356	G86R	IFRD1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000005558		CCDS34736.1			1	
BIN2	0	LGGM	GRCh37	12	51685373	51685373	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	16	5	.	.	ENST00000267012.4:c.1515+2T>G		p.X505_splice	ENST00000267012	NM_016293.2			0	1	1	UPI000013D71F	0		ENST00000267012		ENSG00000110934	1053		21			HGNC	-		BIN2		SNV							ENST00000267012	protein_coding							C		-/2221							YES	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,downstream_gene_variant,,ENST00000605819,;BIN2,downstream_gene_variant,,ENST00000603177,;							HIGH	1515/1698		BIN2_HUMAN			Transcript			.	ENSP00000267012		CCDS8811.1			1	
NAB1	0	LGGM	GRCh37	2	191550360	191550360	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	19	5	.	.	ENST00000337386.5:c.1254A>G	p.Gly418=	p.G418=	ENST00000337386	NM_005966.3	418	ggA/ggG	0	1	1	UPI0000001C43	0		ENST00000337386		ENSG00000138386	7626		24			HGNC	p.G417G		NAB1		SNV							ENST00000409641	protein_coding			Pfam_domain:PF04902,hmmpanther:PTHR12623,hmmpanther:PTHR12623:SF9		G		G		1715/4358				C9JL92_HUMAN,C9JJ42_HUMAN,C9JID4_HUMAN,C9JFF6_HUMAN,C9J3V0_HUMAN			YES	NAB1,synonymous_variant,p.=,ENST00000337386,NM_005966.3;NAB1,synonymous_variant,p.=,ENST00000409641,;NAB1,synonymous_variant,p.=,ENST00000409581,;NAB1,synonymous_variant,p.=,ENST00000357215,;NAB1,synonymous_variant,p.=,ENST00000434473,;NAB1,synonymous_variant,p.=,ENST00000545490,;AC006460.2,non_coding_transcript_exon_variant,,ENST00000421437,;AC006460.2,intron_variant,,ENST00000411949,;AC006460.2,intron_variant,,ENST00000428032,;NAB1,downstream_gene_variant,,ENST00000484774,;							LOW	1254/1464		NAB1_HUMAN			Transcript			.	ENSP00000336894		CCDS2307.1			1	
CAMKK2	0	LGGM	GRCh37	12	121691159	121691159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	19	5	.	.	ENST00000324774.5:c.1024G>A	p.Ala342Thr	p.A342T	ENST00000324774	NM_006549.3	342	Gcg/Acg	0	1	1	UPI000013D208	0	getma.org/pdb.php?prot=KKCC2_HUMAN&from=165&to=446&var=A342T	ENST00000324774		ENSG00000110931	1470		24	-0.03		HGNC	p.A342T	rs749479203	CAMKK2		SNV							ENST00000337174	protein_coding	getma.org/?cm=var&var=hg19,12,121691159,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF178,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/T		T	neutral	1853/5598	3.00E-05	getma.org/?cm=msa&ty=f&p=KKCC2_HUMAN&rb=165&re=446&var=A342T	deleterious(0.03)	Q8IZW1_HUMAN,F5H4I7_HUMAN,F5H360_HUMAN			YES	CAMKK2,missense_variant,p.Ala342Thr,ENST00000324774,NM_006549.3;CAMKK2,missense_variant,p.Ala342Thr,ENST00000337174,NM_153499.2;CAMKK2,missense_variant,p.Ala342Thr,ENST00000347034,NM_172216.1;CAMKK2,missense_variant,p.Ala342Thr,ENST00000538733,NM_153500.1;CAMKK2,missense_variant,p.Ala342Thr,ENST00000392474,NM_001270486.1;CAMKK2,missense_variant,p.Ala129Thr,ENST00000545538,;CAMKK2,missense_variant,p.Ala342Thr,ENST00000392473,NM_172214.2;CAMKK2,missense_variant,p.Ala342Thr,ENST00000446440,NM_172215.2;CAMKK2,missense_variant,p.Ala342Thr,ENST00000404169,NM_001270485.1;CAMKK2,missense_variant,p.Ala342Thr,ENST00000402834,;CAMKK2,missense_variant,p.Ala342Thr,ENST00000412367,NM_172226.2;CAMKK2,non_coding_transcript_exon_variant,,ENST00000535524,;							MODERATE	1024/1767	A342T	KKCC2_HUMAN			Transcript		benign(0.19)	.	ENSP00000312741	1.65E-05	CCDS9216.1			1	
CCDC66	0	LGGM	GRCh37	3	56650054	56650055	+	inframe_insertion	In_Frame_Ins	INS	-	-	CTC	novel	by Submitter	H060617	H060617N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	0	7	.	.	ENST00000394672.3:c.1818_1819insCCT	p.Ser606_Lys607insPro	p.S606_K607insP	ENST00000394672	NM_001141947.1	606	tct/tCTCct	0	1	1	UPI000020ADBC	0		ENST00000394672		ENSG00000180376	27709	0.235	7			HGNC	p.S562delinsSP	rs112267342,COSM1485402,COSM1485401	CCDC66	0.407	insertion				0.38		0,1,1	ENST00000422222	protein_coding			hmmpanther:PTHR22736,hmmpanther:PTHR22736:SF1		S/SP		CTC		1886-1887/3096	0.116			F8WCY0_HUMAN			YES	CCDC66,inframe_insertion,p.Ser606_Lys607insPro,ENST00000394672,NM_001141947.1,NM_001012506.4;CCDC66,inframe_insertion,p.Ser606_Lys607insPro,ENST00000436465,;CCDC66,inframe_insertion,p.Ser572_Lys573insPro,ENST00000326595,;CCDC66,inframe_insertion,p.Ser562_Lys563insPro,ENST00000422222,;FAM208A,downstream_gene_variant,,ENST00000431842,NM_015224.3;CCDC66,downstream_gene_variant,,ENST00000484623,;CCDC66,3_prime_UTR_variant,,ENST00000471681,;CCDC66,3_prime_UTR_variant,,ENST00000341455,;CCDC66,non_coding_transcript_exon_variant,,ENST00000480884,;FAM208A,downstream_gene_variant,,ENST00000459993,;CCDC66,upstream_gene_variant,,ENST00000476142,;CCDC66,downstream_gene_variant,,ENST00000468108,;	0.342				0,1,1		MODERATE	1816-1817/2847		CCD66_HUMAN	0.126		Transcript	2		common_variant	ENSP00000378167	0.207	CCDS46852.1	0.204		1	
FHAD1	0	LGGM	GRCh37	1	15642897	15642897	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	23	6	.	.	ENST00000375995.3:c.288+3214A>G		*96*	ENST00000375995				0	1		UPI0001761703	0		ENST00000358897		ENSG00000142621	29408		29			HGNC	p.L25L		FHAD1		SNV							ENST00000524761	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF3		L		G		1332/5090								FHAD1,synonymous_variant,p.=,ENST00000358897,NM_052929.1;FHAD1,synonymous_variant,p.=,ENST00000417793,;FHAD1,synonymous_variant,p.=,ENST00000375999,;FHAD1,synonymous_variant,p.=,ENST00000375998,;FHAD1,synonymous_variant,p.=,ENST00000375997,;FHAD1,synonymous_variant,p.=,ENST00000401090,;FHAD1,synonymous_variant,p.=,ENST00000524761,;FHAD1,intron_variant,,ENST00000375995,;FHAD1,downstream_gene_variant,,ENST00000483694,;FHAD1,non_coding_transcript_exon_variant,,ENST00000375996,;							LOW	1194/4239		FHAD1_HUMAN			Transcript			.	ENSP00000351770					1	
CDKN2AIP	0	LGGM	GRCh37	4	184367797	184367797	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	6	.	.	ENST00000504169.1:c.960T>G	p.Thr320=	p.T320=	ENST00000504169	NM_017632.2	320	acT/acG	0	1	1	UPI000004A077	0		ENST00000504169		ENSG00000168564	24325		30			HGNC	p.T320T		CDKN2AIP		SNV							ENST00000504169	protein_coding			hmmpanther:PTHR16148,hmmpanther:PTHR16148:SF5		T		G		1167/2721				B3KTW3_HUMAN			YES	CDKN2AIP,synonymous_variant,p.=,ENST00000504169,NM_017632.2;CDKN2AIP,3_prime_UTR_variant,,ENST00000302350,;CDKN2AIP,downstream_gene_variant,,ENST00000510928,;CDKN2AIP,non_coding_transcript_exon_variant,,ENST00000506835,;CDKN2AIP,intron_variant,,ENST00000502924,;							LOW	960/1743		CARF_HUMAN			Transcript			.	ENSP00000427108		CCDS34110.1			1	
DOCK2	0	LGGM	GRCh37	5	169145684	169145684	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	48	6	.	.	ENST00000256935.8:c.2156C>G	p.Thr719Ser	p.T719S	ENST00000256935	NM_004946.2	719	aCt/aGt	0	1	1	UPI00001A38CC	0	NA	ENST00000256935		ENSG00000134516	2988		54	0.515		HGNC	p.T719S		DOCK2		SNV							ENST00000256935	protein_coding	getma.org/?cm=var&var=hg19,5,169145684,C,G&fts=all		hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Superfamily_domains:SSF48371		T/S		G	neutral	2236/6097		getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=618&re=817&var=T719S	tolerated(0.44)	Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,missense_variant,p.Thr719Ser,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Thr211Ser,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,upstream_gene_variant,,ENST00000520836,;DOCK2,missense_variant,p.Thr719Ser,ENST00000524185,;							MODERATE	2156/5493	T719S	DOCK2_HUMAN			Transcript		benign(0.007)	.	ENSP00000256935		CCDS4371.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232561451	232561451	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	17	6	.	.	ENST00000366630.1:c.4514G>A	p.Arg1505Gln	p.R1505Q	ENST00000366630		1505	cGg/cAg	0	1		UPI00001D7D6A	0	NA	ENST00000262861		ENSG00000116991	23800		23	1.83		HGNC	p.R579Q	rs773691697	SIPA1L2		SNV				0.00011			ENST00000308942	protein_coding	getma.org/?cm=var&var=hg19,1,232561451,C,T&fts=all		Pfam_domain:PF11881,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7,Low_complexity_(Seg):seg		R/Q		T	low	4741/6555		getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=1418&re=1666&var=R1505Q	tolerated(0.12)					SIPA1L2,missense_variant,p.Arg1505Gln,ENST00000366630,;SIPA1L2,missense_variant,p.Arg1505Gln,ENST00000262861,NM_020808.3;SIPA1L2,missense_variant,p.Arg579Gln,ENST00000308942,;							MODERATE	4514/5169	R1505Q	SI1L2_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000262861	8.24E-06	CCDS41474.1			1	
NF1	0	LGGM	GRCh37	17	29541582	29541582	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	26	6	.	.	ENST00000358273.4:c.1506A>T	p.Ala502=	p.A502=	ENST00000358273	NM_001042492.2	502	gcA/gcT	0	1	1	UPI000012FFAE	0		ENST00000358273		ENSG00000196712	7765		32			HGNC	p.A536A		NF1		SNV			1				ENST00000579081	protein_coding			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		A		T		1889/12425				Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	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.=,ENST00000431387,NM_001128147.2;NF1,synonymous_variant,p.=,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;							LOW	1506/8520		NF1_HUMAN			Transcript			.	ENSP00000351015		CCDS42292.1			1	
SMPD2	0	LGGM	GRCh37	6	109765096	109765096	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	10	6	.	.	ENST00000258052.3:c.1260T>G	p.Thr420=	p.T420=	ENST00000258052	NM_003080.2	420	acT/acG	0	1	1	UPI000013CFAC	0		ENST00000258052		ENSG00000135587	11121		16			HGNC	p.T420T		SMPD2		SNV							ENST00000258052	protein_coding					T		G		1619/1645							YES	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,;							LOW	1260/1272		NSMA_HUMAN			Transcript			.	ENSP00000258052		CCDS5075.1			1	
NF1	0	LGGM	GRCh37	17	29541581	29541581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	26	6	.	.	ENST00000358273.4:c.1505C>A	p.Ala502Glu	p.A502E	ENST00000358273	NM_001042492.2	502	gCa/gAa	0	1	1	UPI000012FFAE	0	NA	ENST00000358273		ENSG00000196712	7765		32	2.08		HGNC	p.A536E		NF1		SNV			1				ENST00000579081	protein_coding	getma.org/?cm=var&var=hg19,17,29541581,C,A&fts=all		hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		A/E		A	medium	1888/12425		getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=401&re=600&var=A502E	tolerated(0.1)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	NF1,missense_variant,p.Ala502Glu,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Ala502Glu,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Ala168Glu,ENST00000456735,;NF1,missense_variant,p.Ala502Glu,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Ala536Glu,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;							MODERATE	1505/8520	A502E	NF1_HUMAN			Transcript		benign(0.212)	.	ENSP00000351015		CCDS42292.1			1	
FAM120A	0	LGGM	GRCh37	9	96233598	96233598	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	35	6	.	.	ENST00000277165.6:c.650A>G	p.Tyr217Cys	p.Y217C	ENST00000277165	NM_014612.3	217	tAt/tGt	0	1	1	UPI0000211A83	0	NA	ENST00000277165		ENSG00000048828	13247		41	1.735		HGNC	p.Y217C		FAM120A		SNV							ENST00000277165	protein_coding	getma.org/?cm=var&var=hg19,9,96233598,A,G&fts=all		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14,Superfamily_domains:SSF88723		Y/C		G	low	844/5118		getma.org/?cm=msa&ty=f&p=F120A_HUMAN&rb=201&re=400&var=Y217C	deleterious(0)				YES	FAM120A,missense_variant,p.Tyr217Cys,ENST00000277165,NM_014612.3,NM_001286722.1;FAM120A,missense_variant,p.Tyr217Cys,ENST00000333936,;FAM120A,missense_variant,p.Tyr217Cys,ENST00000340893,;FAM120A,missense_variant,p.Tyr217Cys,ENST00000375389,NM_001286724.1;FAM120A,missense_variant,p.Tyr61Cys,ENST00000446420,;							MODERATE	650/3357	Y217C	F120A_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000277165		CCDS6706.1			1	
CTNNA2	0	LGGM	GRCh37	2	80101440	80101440	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	20	6	.	.	ENST00000466387.1:c.824A>T	p.Glu275Val	p.E275V	ENST00000466387		275	gAg/gTg	0	1		UPI0000D9D4EC	0	getma.org/pdb.php?prot=CTNA2_HUMAN&from=18&to=337&var=E275V	ENST00000402739		ENSG00000066032	2510		26	2.78		HGNC	p.E275V	COSM359471,COSM359470	CTNNA2		SNV						1,1	ENST00000541047	protein_coding	getma.org/?cm=var&var=hg19,2,80101440,A,T&fts=all		Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		E/V		T	medium	829/3684		getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=18&re=337&var=E275V	deleterious(0.02)	C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,missense_variant,p.Glu275Val,ENST00000466387,;CTNNA2,missense_variant,p.Glu275Val,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Glu275Val,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Glu275Val,ENST00000541047,;CTNNA2,missense_variant,p.Glu309Val,ENST00000361291,;CTNNA2,missense_variant,p.Glu275Val,ENST00000540488,;					1,1		MODERATE	824/2862	E275V	CTNA2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000384638		CCDS62944.1			1	
NGFR	0	LGGM	GRCh37	17	47583836	47583836	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	4	6	.	.	ENST00000172229.3:c.384C>A	p.Cys128Ter	p.C128*	ENST00000172229	NM_002507.3	128	tgC/tgA	0	1	1	UPI0000049854	0	NA	ENST00000172229		ENSG00000064300	7809		10	0		HGNC	p.C34X		NGFR		SNV							ENST00000504201	protein_coding	getma.org/?cm=var&var=hg19,17,47583836,C,A&fts=all		PROSITE_profiles:PS50050,hmmpanther:PTHR23097:SF13,hmmpanther:PTHR23097,PROSITE_patterns:PS00652,Gene3D:2.10.50.10,Pfam_domain:PF00020,SMART_domains:SM00208,Superfamily_domains:SSF57586,Prints_domain:PR01966		C/*		A	NA	509/3417		NA		B4E096_HUMAN			YES	NGFR,stop_gained,p.Cys128Ter,ENST00000172229,NM_002507.3;NGFR,stop_gained,p.Cys34Ter,ENST00000504201,;NGFR,downstream_gene_variant,,ENST00000509200,;RP5-1029K10.2,non_coding_transcript_exon_variant,,ENST00000514506,;							HIGH	384/1284	C128*	TNR16_HUMAN			Transcript			.	ENSP00000172229		CCDS11549.1			1	
CBFA2T3	0	LGGM	GRCh37	16	88968004	88968004	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	13	7	.	.	ENST00000268679.4:c.212C>T	p.Thr71Met	p.T71M	ENST00000268679	NM_005187.5	71	aCg/aTg	0	1	1	UPI0000167F93	0	NA	ENST00000268679		ENSG00000129993	1537		20	1.495		HGNC	p.T10M		CBFA2T3		SNV			1				ENST00000569443	protein_coding	getma.org/?cm=var&var=hg19,16,88968004,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6		T/M		A	low	609/4477		getma.org/?cm=msa&ty=f&p=MTG16_HUMAN&rb=1&re=170&var=T71M	deleterious_low_confidence(0.01)	H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN			YES	CBFA2T3,missense_variant,p.Thr71Met,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Thr10Met,ENST00000360302,;CBFA2T3,missense_variant,p.Thr71Met,ENST00000436887,;CBFA2T3,missense_variant,p.Thr10Met,ENST00000327483,NM_175931.2;CBFA2T3,missense_variant,p.Thr10Met,ENST00000569464,;CBFA2T3,missense_variant,p.Thr71Met,ENST00000563640,;CBFA2T3,missense_variant,p.Thr10Met,ENST00000562719,;CBFA2T3,missense_variant,p.Thr10Met,ENST00000569443,;CBFA2T3,missense_variant,p.Thr10Met,ENST00000564416,;CBFA2T3,missense_variant,p.Thr10Met,ENST00000570046,;CBFA2T3,intron_variant,,ENST00000448839,;							MODERATE	212/1962	T71M	MTG16_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000268679		CCDS10972.1			1	
DSEL	0	LGGM	GRCh37	18	65178582	65178582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	31	7	.	.	ENST00000310045.7:c.3294A>T	p.Leu1098Phe	p.L1098F	ENST00000310045	NM_032160.2	1098	ttA/ttT	0	1	1	UPI00000740A1	0	NA	ENST00000310045		ENSG00000171451	18144		38	0.895		HGNC	p.L1098F		DSEL		SNV							ENST00000310045	protein_coding	getma.org/?cm=var&var=hg19,18,65178582,T,A&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		L/F		A	low	4768/9531		getma.org/?cm=msa&ty=f&p=DSEL_HUMAN&rb=852&re=1206&var=L1088F	deleterious(0.04)				YES	DSEL,missense_variant,p.Leu1098Phe,ENST00000310045,NM_032160.2;CTD-2541J13.2,non_coding_transcript_exon_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;							MODERATE	3294/3669	L1088F	DSEL_HUMAN			Transcript		benign(0.005)	.	ENSP00000310565		CCDS11995.1			1	
KLHDC7B	0	LGGM	GRCh37	22	50988076	50988076	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	22	7	.	.	ENST00000395676.2:c.1481T>C	p.Phe494Ser	p.F494S	ENST00000395676	NM_138433.3	494	tTc/tCc	0	1	1	UPI00005A75D4	0	NA	ENST00000395676		ENSG00000130487	25145		29	2.115		HGNC	p.F494S		KLHDC7B		SNV							ENST00000395676	protein_coding	getma.org/?cm=var&var=hg19,22,50988076,T,C&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF147		F/S		C	medium	1615/2990		getma.org/?cm=msa&ty=f&p=KLD7B_HUMAN&rb=436&re=594&var=F494S	deleterious(0)				YES	KLHDC7B,missense_variant,p.Phe494Ser,ENST00000395676,NM_138433.3;SYCE3,downstream_gene_variant,,ENST00000406915,NM_001123225.1;SYCE3,downstream_gene_variant,,ENST00000402753,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;							MODERATE	1481/1785	F494S	KLD7B_HUMAN			Transcript		possibly_damaging(0.667)	.	ENSP00000379034		CCDS14097.2			1	
CDK13	0	LGGM	GRCh37	7	40134107	40134107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	63	7	.	.	ENST00000181839.4:c.4067G>T	p.Gly1356Val	p.G1356V	ENST00000181839	NM_031267.3	1356	gGa/gTa	0	1	1	UPI000013C5E3	0	NA	ENST00000181839		ENSG00000065883	1733		70	1.735		HGNC	p.G1296V		CDK13		SNV							ENST00000340829	protein_coding	getma.org/?cm=var&var=hg19,7,40134107,G,T&fts=all		hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125		G/V		T	low	4672/7298		getma.org/?cm=msa&ty=f&p=CDK13_HUMAN&rb=1121&re=1511&var=G1356V	deleterious_low_confidence(0)				YES	CDK13,missense_variant,p.Gly1356Val,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,missense_variant,p.Gly1296Val,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000465643,;CDK13,downstream_gene_variant,,ENST00000478563,;							MODERATE	4067/4539	G1356V	CDK13_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000181839		CCDS5461.1			1	
VENTX	0	LGGM	GRCh37	10	135053251	135053251	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	13	7	.	.	ENST00000325980.9:c.313A>C	p.Thr105Pro	p.T105P	ENST00000325980	NM_014468.3	105	Acc/Ccc	0	1	1	UPI0000070A25	0	getma.org/pdb.php?prot=VENTX_HUMAN&from=92&to=148&var=T105P	ENST00000325980		ENSG00000151650	13639		20	2.03		HGNC	p.T105P		VENTX		SNV							ENST00000325980	protein_coding	getma.org/?cm=var&var=hg19,10,135053251,A,C&fts=all		Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF24,PROSITE_profiles:PS50071		T/P		C	medium	824/2911		getma.org/?cm=msa&ty=f&p=VENTX_HUMAN&rb=92&re=148&var=T105P	tolerated(0.05)				YES	VENTX,missense_variant,p.Thr105Pro,ENST00000325980,NM_014468.3;							MODERATE	313/777	T105P	VENTX_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000357556		CCDS7675.1			1	
RIOK1	0	LGGM	GRCh37	6	7417639	7417641	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	by Submitter	H060617	H060617N.bam	AAG	AAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	15	7	.	.	ENST00000379834.2:c.1672_1674del	p.Lys558del	p.K558del	ENST00000379834	NM_031480.2	558	AAG/-	0	1	1	UPI000003FDCE	0		ENST00000379834		ENSG00000124784	18656		22			HGNC	p.558_558del		RIOK1		deletion							ENST00000379834	protein_coding			PIRSF_domain:PIRSF038147,hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF23,Low_complexity_(Seg):seg		K/-		-		2179-2181/2810				Q9H2L9_HUMAN			YES	RIOK1,inframe_deletion,p.Lys558del,ENST00000379834,NM_031480.2,NM_153005.1;RIOK1,non_coding_transcript_exon_variant,,ENST00000264874,;							MODERATE	1672-1674/1707		RIOK1_HUMAN			Transcript			.	ENSP00000369162		CCDS4500.1			1	
LGALS13	0	LGGM	GRCh37	19	40095888	40095888	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	15	8	.	.	ENST00000221797.4:c.163C>T	p.Arg55Ter	p.R55*	ENST00000221797	NM_013268.2	55	Cga/Tga	0	1	1	UPI0000032F23	0	NA	ENST00000221797		ENSG00000105198	15449		23	0		HGNC	p.R25X	rs534285827,COSM2151397	LGALS13	6.06E-05	SNV						0,1	ENST00000600141	protein_coding	getma.org/?cm=var&var=hg19,19,40095888,C,T&fts=all	T:0	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		R/*		T	NA	208/602	7.49E-05	NA		Q1M314_HUMAN	T:0	T:0	YES	LGALS13,stop_gained,p.Arg55Ter,ENST00000221797,NM_013268.2;LGALS13,stop_gained,p.Arg25Ter,ENST00000600141,;LGALS13,non_coding_transcript_exon_variant,,ENST00000600546,;		T:0.0002			0,1		HIGH	163/420	R55*	PP13_HUMAN		T:0	Transcript			.	ENSP00000221797	4.94E-05	CCDS33024.1		T:0.001	1	
NALCN	0	LGGM	GRCh37	13	101712264	101712264	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	22	8	.	.	ENST00000251127.6:c.4811A>C	p.Glu1604Ala	p.E1604A	ENST00000251127	NM_052867.2	1604	gAg/gCg	0	1	1	UPI000004EBBD	0	NA	ENST00000251127		ENSG00000102452	19082		30	0.69		HGNC	p.E1604A		NALCN		SNV			1				ENST00000251127	protein_coding	getma.org/?cm=var&var=hg19,13,101712264,T,G&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176		E/A		G	neutral	4893/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=1447&re=1646&var=E1604A	tolerated(0.56)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Glu1604Ala,ENST00000251127,NM_052867.2;NALCN-AS1,downstream_gene_variant,,ENST00000457843,;							MODERATE	4811/5217	E1604A	NALCN_HUMAN			Transcript		benign(0.001)	.	ENSP00000251127		CCDS9498.1			1	
FRYL	0	LGGM	GRCh37	4	48549759	48549759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	33	8	.	.	ENST00000358350.4:c.4916A>G	p.Tyr1639Cys	p.Y1639C	ENST00000358350	NM_015030.1	1639	tAt/tGt	0	1	1	UPI0000EBC149	0	NA	ENST00000358350		ENSG00000075539	29127		41	1.935		HGNC	p.Y1639C	rs759363121	FRYL		SNV							ENST00000537810	protein_coding	getma.org/?cm=var&var=hg19,4,48549759,T,C&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF14228,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295		Y/C		C	medium	5521/11706	1.51E-05	getma.org/?cm=msa&ty=f&p=FRYL_HUMAN&rb=1589&re=1663&var=Y1639C	deleterious(0.01)				YES	FRYL,missense_variant,p.Tyr1639Cys,ENST00000537810,;FRYL,missense_variant,p.Tyr1639Cys,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Tyr1639Cys,ENST00000503238,;FRYL,missense_variant,p.Tyr510Cys,ENST00000514617,;FRYL,5_prime_UTR_variant,,ENST00000264319,;FRYL,5_prime_UTR_variant,,ENST00000507873,;FRYL,downstream_gene_variant,,ENST00000507711,;FRYL,non_coding_transcript_exon_variant,,ENST00000502925,;FRYL,upstream_gene_variant,,ENST00000513401,;							MODERATE	4916/9042	Y1639C	FRYL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351113	8.28E-06	CCDS43227.1			1	
SLC8A1	0	LGGM	GRCh37	2	40342657	40342657	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	27	8	.	.	ENST00000403092.1:c.2658G>T	p.Trp886Cys	p.W886C	ENST00000403092		886	tgG/tgT	0	1		UPI000012FC46	0	getma.org/pdb.php?prot=NAC1_HUMAN&from=809&to=962&var=W886C	ENST00000332839		ENSG00000183023	11068		35	3.84		HGNC	p.W850C		SLC8A1		SNV							ENST00000402441	protein_coding	getma.org/?cm=var&var=hg19,2,40342657,C,A&fts=all		Pfam_domain:PF01699,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845,Transmembrane_helices:TMhelix		W/C		A	high	2658/2922		getma.org/?cm=msa&ty=f&p=NAC1_HUMAN&rb=809&re=962&var=W886C	deleterious(0)	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN				SLC8A1,missense_variant,p.Trp850Cys,ENST00000406785,;SLC8A1,missense_variant,p.Trp881Cys,ENST00000542756,;SLC8A1,missense_variant,p.Trp886Cys,ENST00000403092,;SLC8A1,missense_variant,p.Trp881Cys,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Trp850Cys,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Trp850Cys,ENST00000405269,;SLC8A1,missense_variant,p.Trp886Cys,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Trp878Cys,ENST00000408028,NM_001252624.1;SLC8A1,missense_variant,p.Trp850Cys,ENST00000542024,;SLC8A1,missense_variant,p.Trp850Cys,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,3_prime_UTR_variant,,ENST00000407929,;							MODERATE	2658/2922	W886C	NAC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332931		CCDS1806.1			1	
DOCK10	0	LGGM	GRCh37	2	225751196	225751196	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	15	8	.	.	ENST00000258390.7:c.469G>T	p.Glu157Ter	p.E157*	ENST00000258390	NM_014689.2	157	Gaa/Taa	0	1	1	UPI000021D2A7	0	NA	ENST00000258390		ENSG00000135905	23479		23	0		HGNC	p.E151X		DOCK10		SNV							ENST00000409592	protein_coding	getma.org/?cm=var&var=hg19,2,225751196,C,A&fts=all		hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317,Superfamily_domains:SSF50729		E/*		A	NA	537/7260		NA		Q4ZG60_HUMAN,Q3LIC8_HUMAN			YES	DOCK10,stop_gained,p.Glu151Ter,ENST00000409592,;DOCK10,stop_gained,p.Glu157Ter,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000471810,;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;DOCK10,upstream_gene_variant,,ENST00000543715,;							HIGH	469/6561	E157*	DOC10_HUMAN			Transcript			.	ENSP00000258390		CCDS46528.1			1	
USP34	0	LGGM	GRCh37	2	61415642	61415642	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	31	8	.	.	ENST00000398571.2:c.10236T>G	p.Val3412=	p.V3412=	ENST00000398571	NM_014709.3	3412	gtT/gtG	0	1	1	UPI0000410E09	0		ENST00000398571		ENSG00000115464	20066		39			HGNC	p.V290V		USP34		SNV							ENST00000436269	protein_coding					V		C		10313/11357							YES	USP34,synonymous_variant,p.=,ENST00000398571,NM_014709.3;USP34,synonymous_variant,p.=,ENST00000411912,;USP34,synonymous_variant,p.=,ENST00000436269,;AHSA2,3_prime_UTR_variant,,ENST00000394457,;AHSA2,downstream_gene_variant,,ENST00000357022,NM_152392.3;AHSA2,downstream_gene_variant,,ENST00000410073,;USP34,non_coding_transcript_exon_variant,,ENST00000492604,;AHSA2,downstream_gene_variant,,ENST00000489653,;AHSA2,downstream_gene_variant,,ENST00000493628,;AHSA2,downstream_gene_variant,,ENST00000491217,;USP34,downstream_gene_variant,,ENST00000463046,;AHSA2,downstream_gene_variant,,ENST00000471542,;USP34,downstream_gene_variant,,ENST00000490552,;AHSA2,downstream_gene_variant,,ENST00000484217,;AHSA2,downstream_gene_variant,,ENST00000487904,;USP34,downstream_gene_variant,,ENST00000498268,;							LOW	10236/10641		UBP34_HUMAN			Transcript			.	ENSP00000381577		CCDS42686.1			1	
CREBBP	0	LGGM	GRCh37	16	3808022	3808022	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	25	9	.	.	ENST00000262367.5:c.3397A>G	p.Met1133Val	p.M1133V	ENST00000262367	NM_004380.2	1133	Atg/Gtg	0	1	1	UPI0000000620	0	getma.org/pdb.php?prot=CBP_HUMAN&from=1094&to=1180&var=M1133V	ENST00000262367		ENSG00000005339	2348		34	2.575		HGNC	p.M1095V		CREBBP		SNV			1				ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3808022,T,C&fts=all		PROSITE_profiles:PS50014,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,PROSITE_patterns:PS00633,Gene3D:1.20.920.10,Pfam_domain:PF00439,SMART_domains:SM00297,Superfamily_domains:SSF47370,Prints_domain:PR00503		M/V		C	medium	4207/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1094&re=1180&var=M1133V		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			YES	CREBBP,missense_variant,p.Met1133Val,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Met1095Val,ENST00000382070,NM_001079846.1;CREBBP,missense_variant,p.Met88Val,ENST00000570939,;							MODERATE	3397/7329	M1133V	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
KMT2C	0	LGGM	GRCh37	7	151970887	151970887	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	168	9	.	.	ENST00000262189.6:c.915G>T	p.Met305Ile	p.M305I	ENST00000262189	NM_170606.2	305	atG/atT	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		177	0.175		HGNC	p.M305I	COSM600146,COSM600145	KMT2C		SNV						1,1	ENST00000355193	protein_coding	getma.org/?cm=var&var=hg19,7,151970887,C,A&fts=all		Pfam_domain:PF13771,SMART_domains:SM00249		M/I		A	neutral	1134/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=252&re=331&var=M305I		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Met305Ile,ENST00000355193,;KMT2C,missense_variant,p.Met305Ile,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Met305Ile,ENST00000558084,;					1,1		MODERATE	915/14736	M305I	KMT2C_HUMAN			Transcript		benign(0.012)	.	ENSP00000262189		CCDS5931.1			1	
SLC27A3	0	LGGM	GRCh37	1	153747951	153747951	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	29	9	.	.	ENST00000368661.3:c.119T>C	p.Val40Ala	p.V40A	ENST00000368661	NM_024330.1	40	gTg/gCg	0	1	1	UPI0000038E9E	0	NA	ENST00000368661		ENSG00000143554	10997		38	0		HGNC	p.V40A		SLC27A3		SNV							ENST00000368661	protein_coding	getma.org/?cm=var&var=hg19,1,153747951,T,C&fts=all		hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096		V/A		C	neutral	184/2410		getma.org/?cm=msa&ty=f&p=S27A3_HUMAN&rb=1&re=50&var=V40A	tolerated_low_confidence(0.11)				YES	SLC27A3,missense_variant,p.Val121Ala,ENST00000271857,;SLC27A3,missense_variant,p.Val40Ala,ENST00000368661,NM_024330.1;INTS3,downstream_gene_variant,,ENST00000456435,;INTS3,downstream_gene_variant,,ENST00000318967,NM_023015.3;INTS3,downstream_gene_variant,,ENST00000435409,;INTS3,downstream_gene_variant,,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000458027,;SLC27A3,upstream_gene_variant,,ENST00000524676,;SLC27A3,upstream_gene_variant,,ENST00000532853,;SLC27A3,intron_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;INTS3,downstream_gene_variant,,ENST00000481797,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;SLC27A3,upstream_gene_variant,,ENST00000483574,;INTS3,downstream_gene_variant,,ENST00000503133,;SLC27A3,upstream_gene_variant,,ENST00000531251,;SLC27A3,upstream_gene_variant,,ENST00000468044,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,upstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000368659,;							MODERATE	119/2193	V40A	S27A3_HUMAN			Transcript		unknown(0)	.	ENSP00000357650		CCDS1053.1			1	
CBR4	0	LGGM	GRCh37	4	169911301	169911301	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	38	9	.	.	ENST00000306193.3:c.714A>C	p.Ter238TyrextTer28	p.*238Yext*28	ENST00000306193	NM_032783.4	238	taA/taC	0	1	1	UPI000006EEEF	0		ENST00000306193		ENSG00000145439	25891		47			HGNC	p.X238Y		CBR4		SNV							ENST00000306193	protein_coding					*/Y		G		883/3443							YES	CBR4,stop_lost,p.Ter238TyrextTer28,ENST00000306193,NM_032783.4;CBR4,intron_variant,,ENST00000509108,;CBR4,intron_variant,,ENST00000510042,;							HIGH	714/714		CBR4_HUMAN			Transcript			.	ENSP00000303525		CCDS3812.1			1	
DEPTOR	0	LGGM	GRCh37	8	120886197	120886197	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	21	10	.	.	ENST00000286234.5:c.111G>C	p.Gly37=	p.G37=	ENST00000286234	NM_022783.2	37	ggG/ggC	0	1	1	UPI000013DE38	0		ENST00000286234		ENSG00000155792	22953		31			HGNC	p.G37G		DEPTOR		SNV							ENST00000286234	protein_coding			Gene3D:1.10.10.10,PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF18		G		C		241/2569							YES	DEPTOR,synonymous_variant,p.=,ENST00000286234,NM_022783.2;DEPTOR,synonymous_variant,p.=,ENST00000523492,NM_001283012.1;KB-1471A8.1,non_coding_transcript_exon_variant,,ENST00000500705,;KB-1471A8.1,intron_variant,,ENST00000523563,;							LOW	111/1230		DPTOR_HUMAN			Transcript			.	ENSP00000286234		CCDS6331.1			1	
KIAA0922	0	LGGM	GRCh37	4	154533494	154533494	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	44	10	.	.	ENST00000409959.3:c.3509T>G	p.Ile1170Ser	p.I1170S	ENST00000409959	NM_001131007.1	1170	aTt/aGt	0	1		UPI000170BA66	0	NA	ENST00000409663		ENSG00000121210	29146		54	1.1		HGNC	p.I1169S		KIAA0922		SNV							ENST00000409663	protein_coding	getma.org/?cm=var&var=hg19,4,154533494,T,G&fts=all		hmmpanther:PTHR22050:SF2,hmmpanther:PTHR22050		I/S		G	low	3558/5017		getma.org/?cm=msa&ty=f&p=T131L_HUMAN&rb=1162&re=1361&var=I1169S	tolerated(0.46)					KIAA0922,missense_variant,p.Ile1170Ser,ENST00000409959,NM_001131007.1;KIAA0922,missense_variant,p.Ile1169Ser,ENST00000409663,NM_015196.3;KIAA0922,missense_variant,p.Ile1086Ser,ENST00000440693,;KIAA0922,missense_variant,p.Ile947Ser,ENST00000240487,;							MODERATE	3506/4830	I1169S	T131L_HUMAN			Transcript		benign(0.005)	.	ENSP00000386574		CCDS3783.2			1	
NAA15	0	LGGM	GRCh37	4	140291516	140291516	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	27	10	.	.	ENST00000296543.5:c.1905A>T	p.Ile635=	p.I635=	ENST00000296543	NM_057175.3	635	atA/atT	0	1	1	UPI000004B631	0		ENST00000296543		ENSG00000164134	30782		37			HGNC	p.I635I		NAA15		SNV			1				ENST00000398947	protein_coding			Low_complexity_(Seg):seg,PIRSF_domain:PIRSF000422,Pfam_domain:PF12569,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF4		I		T		2228/6222							YES	NAA15,synonymous_variant,p.=,ENST00000296543,NM_057175.3;NAA15,synonymous_variant,p.=,ENST00000398947,;							LOW	1905/2601		NAA15_HUMAN			Transcript			.	ENSP00000296543		CCDS43270.1			1	
YTHDC2	0	LGGM	GRCh37	5	112920090	112920090	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	75	10	.	.	ENST00000161863.4:c.3739C>T	p.Arg1247Ter	p.R1247*	ENST00000161863	NM_022828.3	1247	Cga/Tga	0	1	1	UPI0000367311	0	NA	ENST00000161863		ENSG00000047188	24721		85	0		HGNC	p.R1247X		YTHDC2		SNV							ENST00000161863	protein_coding	getma.org/?cm=var&var=hg19,5,112920090,C,T&fts=all				R/*		T	NA	3952/6316		NA		D6RA70_HUMAN			YES	YTHDC2,stop_gained,p.Arg1247Ter,ENST00000161863,NM_022828.3;YTHDC2,non_coding_transcript_exon_variant,,ENST00000512600,;YTHDC2,downstream_gene_variant,,ENST00000506333,;							HIGH	3739/4293	R1247*	YTDC2_HUMAN			Transcript			.	ENSP00000161863		CCDS4113.1			1	
CTSC	0	LGGM	GRCh37	11	88027351	88027351	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	27	11	.	.	ENST00000227266.5:c.1215T>C	p.His405=	p.H405=	ENST00000227266	NM_001814.4	405	caT/caC	0	1	1	UPI000006D22D	0		ENST00000227266		ENSG00000109861	2528		38			HGNC	p.H405H		CTSC		SNV			1				ENST00000227266	protein_coding			Gene3D:3.90.70.10,Pfam_domain:PF00112,Prints_domain:PR00705,PROSITE_patterns:PS00639,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF314,SMART_domains:SM00645,Superfamily_domains:SSF54001		H		G		1330/1921				I3V9T0_HUMAN			YES	CTSC,synonymous_variant,p.=,ENST00000227266,NM_001814.4;CTSC,downstream_gene_variant,,ENST00000527018,;CTSC,non_coding_transcript_exon_variant,,ENST00000533897,;							LOW	1215/1392		CATC_HUMAN			Transcript			.	ENSP00000227266		CCDS8282.1			1	
SRF	0	LGGM	GRCh37	6	43141755	43141755	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	40	11	.	.	ENST00000265354.4:c.684A>G	p.Ser228=	p.S228=	ENST00000265354	NM_003131.2	228	tcA/tcG	0	1	1	UPI0000135F3B	0		ENST00000265354		ENSG00000112658	11291		51			HGNC	p.S24S		SRF		SNV							ENST00000457278	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF32		S		G		1042/4200				F5H6V4_HUMAN			YES	SRF,synonymous_variant,p.=,ENST00000265354,NM_003131.2;SRF,synonymous_variant,p.=,ENST00000457278,;							LOW	684/1527		SRF_HUMAN			Transcript			.	ENSP00000265354		CCDS4889.1			1	
EIF4E1B	0	LGGM	GRCh37	5	176071393	176071393	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	18	11	.	.	ENST00000318682.6:c.313C>T	p.Gln105Ter	p.Q105*	ENST00000318682	NM_001099408.1	105	Cag/Tag	0	1	1	UPI0001572CC7	0	NA	ENST00000318682		ENSG00000175766	33179		29	0		HGNC	p.Q105X		EIF4E1B		SNV							ENST00000318682	protein_coding	getma.org/?cm=var&var=hg19,5,176071393,C,T&fts=all		Superfamily_domains:SSF55418,Gene3D:3.30.760.10,Pfam_domain:PF01652,hmmpanther:PTHR11960,hmmpanther:PTHR11960:SF3		Q/*		T	NA	897/1974		NA		D6RHE2_HUMAN			YES	EIF4E1B,stop_gained,p.Gln105Ter,ENST00000318682,NM_001099408.1;EIF4E1B,stop_gained,p.Gln105Ter,ENST00000504597,;EIF4E1B,stop_gained,p.Gln46Ter,ENST00000505497,;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,downstream_gene_variant,,ENST00000510660,;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,;							HIGH	313/729	Q105*	I4E1B_HUMAN			Transcript			.	ENSP00000323714		CCDS47345.1			1	
ZSCAN9	0	LGGM	GRCh37	6	28195556	28195556	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	11	.	.	ENST00000425468.2:c.509C>T	p.Pro170Leu	p.P170L	ENST00000425468	NM_001199479.1	170	cCt/cTt	0	1		UPI000013C315	0	NA	ENST00000252207		ENSG00000137185	12984		35	0		HGNC	p.P170L		ZSCAN9		SNV							ENST00000425468	protein_coding	getma.org/?cm=var&var=hg19,6,28195556,C,T&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF15		P/L		T	neutral	657/1621		getma.org/?cm=msa&ty=f&p=ZN193_HUMAN&rb=142&re=178&var=P170L	tolerated(0.05)	U3KQV4_HUMAN,E9PLJ4_HUMAN				ZSCAN9,missense_variant,p.Pro170Leu,ENST00000527436,;ZSCAN9,missense_variant,p.Pro170Leu,ENST00000425468,NM_001199479.1;ZSCAN9,missense_variant,p.Pro170Leu,ENST00000252207,NM_006299.4;ZSCAN9,missense_variant,p.Pro170Leu,ENST00000531979,NM_001199480.1;ZSCAN9,missense_variant,p.Pro170Leu,ENST00000527844,;ZSCAN9,missense_variant,p.Pro170Leu,ENST00000526391,;ZSCAN9,3_prime_UTR_variant,,ENST00000531981,;ZSCAN9,downstream_gene_variant,,ENST00000531941,;							MODERATE	509/1185	P170L	ZSC9_HUMAN			Transcript		benign(0.005)	.	ENSP00000252207		CCDS4646.1			1	
CAV2	0	LGGM	GRCh37	7	116146055	116146055	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	40	11	.	.	ENST00000222693.4:c.369A>G	p.Leu123=	p.L123=	ENST00000222693	NM_001206747.1	123	ctA/ctG	0	1	1	UPI00001270F1	0		ENST00000222693		ENSG00000105971	1528		51			HGNC	p.N61D		CAV2		SNV							ENST00000343213	protein_coding			Pfam_domain:PF01146,hmmpanther:PTHR10844,hmmpanther:PTHR10844:SF3		L		G		761/3301				Q712N7_HUMAN,Q53X57_HUMAN,E9PCT3_HUMAN			YES	CAV2,missense_variant,p.Asn61Asp,ENST00000343213,NM_198212.2;CAV2,synonymous_variant,p.=,ENST00000222693,NM_001206747.1,NM_001233.4,NM_001206748.1;CAV2,non_coding_transcript_exon_variant,,ENST00000462876,;CAV2,non_coding_transcript_exon_variant,,ENST00000498493,;CAV2,non_coding_transcript_exon_variant,,ENST00000467035,;CAV2,non_coding_transcript_exon_variant,,ENST00000477018,;CAV2,non_coding_transcript_exon_variant,,ENST00000478226,;CAV2,non_coding_transcript_exon_variant,,ENST00000484871,;CAV2,non_coding_transcript_exon_variant,,ENST00000472470,;CAV2,non_coding_transcript_exon_variant,,ENST00000495841,;CAV2,non_coding_transcript_exon_variant,,ENST00000485561,;							LOW	369/489		CAV2_HUMAN			Transcript			.	ENSP00000222693		CCDS5766.1			1	
CDH17	0	LGGM	GRCh37	8	95143121	95143121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	96	11	.	.	ENST00000027335.3:c.2267G>A	p.Gly756Asp	p.G756D	ENST00000027335	NM_004063.3	756	gGc/gAc	0	1	1	UPI000013C546	0	getma.org/pdb.php?prot=CAD17_HUMAN&from=668&to=777&var=G756D	ENST00000027335		ENSG00000079112	1756		107	2.075		HGNC	p.G756D		CDH17		SNV							ENST00000450165	protein_coding	getma.org/?cm=var&var=hg19,8,95143121,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Superfamily_domains:SSF49313		G/D		T	medium	2392/3693		getma.org/?cm=msa&ty=f&p=CAD17_HUMAN&rb=668&re=777&var=G756D	tolerated(0.08)	E5RJT3_HUMAN			YES	CDH17,missense_variant,p.Gly756Asp,ENST00000027335,NM_004063.3;CDH17,missense_variant,p.Gly756Asp,ENST00000450165,NM_001144663.1;CDH17,missense_variant,p.Gly542Asp,ENST00000441892,;							MODERATE	2267/2499	G756D	CAD17_HUMAN			Transcript		benign(0.273)	.	ENSP00000027335		CCDS6260.1			1	
DNAH10	0	LGGM	GRCh37	12	124270374	124270374	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	33	11	.	.	ENST00000409039.3:c.1129A>T	p.Ile377Phe	p.I377F	ENST00000409039	NM_207437.3	377	Atc/Ttc	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		44	2.995		HGNC	p.I377F		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124270374,A,T&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		I/F		T	medium	1154/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=241&re=544&var=I377F					YES	DNAH10,missense_variant,p.Ile377Phe,ENST00000409039,NM_207437.3;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;							MODERATE	1129/13416	I377F	DYH10_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000386770		CCDS9255.2			1	
DNAH17	0	LGGM	GRCh37	17	76528588	76528588	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	13	11	.	.	ENST00000389840.5:c.3090C>A	p.Pro1030=	p.P1030=	ENST00000389840		1030	ccC/ccA	0	1	1	UPI0001A5EE11	0		ENST00000389840		ENSG00000187775	2946		24			HGNC	p.P1030P		DNAH17		SNV							ENST00000389840	protein_coding			hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676		P		T		3215/13792							YES	DNAH17,synonymous_variant,p.=,ENST00000389840,;DNAH17,synonymous_variant,p.=,ENST00000585328,NM_173628.3;RN7SL454P,downstream_gene_variant,,ENST00000492744,;							LOW	3090/13458		DYH17_HUMAN			Transcript			.	ENSP00000374490					1	
CDH17	0	LGGM	GRCh37	8	95143120	95143120	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	96	11	.	.	ENST00000027335.3:c.2268C>T	p.Gly756=	p.G756=	ENST00000027335	NM_004063.3	756	ggC/ggT	0	1	1	UPI000013C546	0		ENST00000027335		ENSG00000079112	1756		107			HGNC	p.G756G		CDH17		SNV							ENST00000450165	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Superfamily_domains:SSF49313		G		A		2393/3693				E5RJT3_HUMAN			YES	CDH17,synonymous_variant,p.=,ENST00000027335,NM_004063.3;CDH17,synonymous_variant,p.=,ENST00000450165,NM_001144663.1;CDH17,synonymous_variant,p.=,ENST00000441892,;							LOW	2268/2499		CAD17_HUMAN			Transcript			.	ENSP00000027335		CCDS6260.1			1	
ALDOB	0	LGGM	GRCh37	9	104187316	104187316	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	11	.	.	ENST00000374855.4:c.808T>G	p.Phe270Val	p.F270V	ENST00000374855	NM_000035.3	270	Ttt/Gtt	0	1	1	UPI000016A4A9	0	getma.org/pdb.php?prot=ALDOB_HUMAN&from=15&to=364&var=F270V	ENST00000374855		ENSG00000136872	417		35	3.34		HGNC	p.F197V		ALDOB		SNV			1				ENST00000374853	protein_coding	getma.org/?cm=var&var=hg19,9,104187316,A,C&fts=all		Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2		F/V		C	medium	933/2451		getma.org/?cm=msa&ty=f&p=ALDOB_HUMAN&rb=15&re=364&var=F270V	deleterious(0.02)				YES	ALDOB,missense_variant,p.Phe270Val,ENST00000374855,NM_000035.3;ALDOB,downstream_gene_variant,,ENST00000468981,;							MODERATE	808/1095	F270V	ALDOB_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000363988		CCDS6756.1			1	
USP34	0	LGGM	GRCh37	2	61510367	61510367	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	12	.	.	ENST00000398571.2:c.4911T>G	p.Ala1637=	p.A1637=	ENST00000398571	NM_014709.3	1637	gcT/gcG	0	1	1	UPI0000410E09	0		ENST00000398571		ENSG00000115464	20066		36			HGNC	p.A1637A		USP34		SNV							ENST00000398571	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97		A		C		4988/11357							YES	USP34,synonymous_variant,p.=,ENST00000398571,NM_014709.3;USP34,upstream_gene_variant,,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,upstream_gene_variant,,ENST00000484179,;USP34,upstream_gene_variant,,ENST00000494867,;							LOW	4911/10641		UBP34_HUMAN			Transcript			.	ENSP00000381577		CCDS42686.1			1	
TTC19	0	LGGM	GRCh37	17	15929919	15929919	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	28	12	.	.	ENST00000261647.5:c.897T>C	p.Tyr299=	p.Y299=	ENST00000261647	NM_001271420.1	299	taT/taC	0	1	1	UPI0000042226	0		ENST00000261647		ENSG00000011295	26006		40			HGNC	p.Y50Y		TTC19		SNV			1				ENST00000470649	protein_coding			Gene3D:1.25.40.10,Pfam_domain:PF13424,PROSITE_profiles:PS50293,hmmpanther:PTHR13143,SMART_domains:SM00028,Superfamily_domains:SSF48452		Y		C		1366/3002							YES	TTC19,synonymous_variant,p.=,ENST00000261647,NM_001271420.1,NM_017775.3;TTC19,synonymous_variant,p.=,ENST00000486880,;TTC19,synonymous_variant,p.=,ENST00000470649,;TTC19,synonymous_variant,p.=,ENST00000578103,;NCOR1,downstream_gene_variant,,ENST00000268712,NM_006311.3;NCOR1,downstream_gene_variant,,ENST00000395851,NM_001190440.1;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;TTC19,3_prime_UTR_variant,,ENST00000475723,;TTC19,non_coding_transcript_exon_variant,,ENST00000481107,;TTC19,non_coding_transcript_exon_variant,,ENST00000465567,;NCOR1,downstream_gene_variant,,ENST00000470782,;NCOR1,downstream_gene_variant,,ENST00000464381,;							LOW	897/1143		TTC19_HUMAN			Transcript			.	ENSP00000261647		CCDS11174.2			1	
FARSA	0	LGGM	GRCh37	19	13035024	13035024	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	35	12	.	.	ENST00000314606.4:c.1329G>T	p.Leu443=	p.L443=	ENST00000314606	NM_004461.2	443	ctG/ctT	0	1	1	UPI0000136413	0		ENST00000314606		ENSG00000179115	3592		47			HGNC	p.L412L		FARSA		SNV							ENST00000423140	protein_coding			Superfamily_domains:SSF55681,Gene3D:3.30.930.10,Pfam_domain:PF01409,TIGRFAM_domain:TIGR00468,hmmpanther:PTHR11538:SF15,hmmpanther:PTHR11538,PROSITE_profiles:PS50862		L		A		1348/1814				Q6IBR2_HUMAN			YES	FARSA,synonymous_variant,p.=,ENST00000588025,;FARSA,synonymous_variant,p.=,ENST00000314606,NM_004461.2;FARSA,synonymous_variant,p.=,ENST00000423140,;FARSA,synonymous_variant,p.=,ENST00000593021,;FARSA,intron_variant,,ENST00000587488,;SYCE2,upstream_gene_variant,,ENST00000293695,NM_001105578.1;MIR5695,downstream_gene_variant,,ENST00000579717,;FARSA,3_prime_UTR_variant,,ENST00000586146,;FARSA,non_coding_transcript_exon_variant,,ENST00000588965,;FARSA,downstream_gene_variant,,ENST00000592662,;FARSA,downstream_gene_variant,,ENST00000586280,;							LOW	1329/1527		SYFA_HUMAN			Transcript			.	ENSP00000320309		CCDS12287.1			1	
SLC45A2	0	LGGM	GRCh37	5	33984634	33984634	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	17	12	.	.	ENST00000296589.4:c.55G>A	p.Asp19Asn	p.D19N	ENST00000296589	NM_016180.3	19	Gat/Aat	0	1	1	UPI00001AEC19	0	NA	ENST00000296589		ENSG00000164175	16472		29	0.805		HGNC	p.D19N		SLC45A2		SNV			1				ENST00000296589	protein_coding	getma.org/?cm=var&var=hg19,5,33984634,C,T&fts=all		hmmpanther:PTHR19432,hmmpanther:PTHR19432:SF28		D/N		T	low	202/1772		getma.org/?cm=msa&ty=f&p=S45A2_HUMAN&rb=1&re=33&var=D19N	tolerated(0.09)				YES	SLC45A2,missense_variant,p.Asp19Asn,ENST00000382102,NM_001012509.2;SLC45A2,missense_variant,p.Asp19Asn,ENST00000296589,NM_016180.3;SLC45A2,missense_variant,p.Asp19Asn,ENST00000342059,;SLC45A2,missense_variant,p.Asp19Asn,ENST00000509381,;SLC45A2,missense_variant,p.Asp19Asn,ENST00000345083,;AMACR,downstream_gene_variant,,ENST00000335606,NM_001167595.1,NM_014324.5;AMACR,downstream_gene_variant,,ENST00000382072,NM_203382.2;AMACR,downstream_gene_variant,,ENST00000502637,;AMACR,downstream_gene_variant,,ENST00000382085,;SLC45A2,upstream_gene_variant,,ENST00000510600,;AMACR,downstream_gene_variant,,ENST00000514195,;SLC45A2,non_coding_transcript_exon_variant,,ENST00000505056,;RP11-1084J3.4,downstream_gene_variant,,ENST00000382079,;AMACR,downstream_gene_variant,,ENST00000506639,;							MODERATE	55/1593	D19N	S45A2_HUMAN			Transcript		benign(0.006)	.	ENSP00000296589		CCDS3901.1			1	
INPP4A	0	LGGM	GRCh37	2	99172153	99172153	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	44	12	.	.	ENST00000074304.5:c.1719A>G	p.Lys573=	p.K573=	ENST00000074304	NM_001134224.1	573	aaA/aaG	0	1	1	UPI000006CD60	0		ENST00000074304		ENSG00000040933	6074		56			HGNC	p.K573K		INPP4A		SNV							ENST00000074304	protein_coding			hmmpanther:PTHR12187:SF4,hmmpanther:PTHR12187		K		G		2112/6752							YES	INPP4A,splice_region_variant,p.=,ENST00000409016,;INPP4A,splice_region_variant,p.=,ENST00000545415,;INPP4A,splice_region_variant,p.=,ENST00000409540,NM_001566.2;INPP4A,synonymous_variant,p.=,ENST00000074304,NM_001134224.1,NM_004027.2;INPP4A,synonymous_variant,p.=,ENST00000409851,NM_001134225.1;INPP4A,synonymous_variant,p.=,ENST00000523221,;INPP4A,intron_variant,,ENST00000409463,;INPP4A,non_coding_transcript_exon_variant,,ENST00000468638,;							LOW	1719/2934		INP4A_HUMAN			Transcript			.	ENSP00000074304		CCDS46369.1			1	
GFM2	0	LGGM	GRCh37	5	74041558	74041558	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	19	12	.	.	ENST00000296805.3:c.794A>G	p.Asn265Ser	p.N265S	ENST00000296805	NM_032380.4	265	aAt/aGt	0	1	1	UPI0000129CA7	0	getma.org/pdb.php?prot=RRF2M_HUMAN&from=68&to=351&var=N265S	ENST00000296805		ENSG00000164347	29682		31	-0.79		HGNC	p.N223S		GFM2		SNV							ENST00000509097	protein_coding	getma.org/?cm=var&var=hg19,5,74041558,T,C&fts=all		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		N/S		C	neutral	1252/3249		getma.org/?cm=msa&ty=f&p=RRF2M_HUMAN&rb=68&re=351&var=N265S	tolerated(1)	D6RF75_HUMAN			YES	GFM2,missense_variant,p.Asn265Ser,ENST00000296805,NM_032380.4;GFM2,missense_variant,p.Asn265Ser,ENST00000509430,NM_001281302.1;GFM2,missense_variant,p.Asn265Ser,ENST00000345239,NM_170691.2;GFM2,missense_variant,p.Asn265Ser,ENST00000427854,NM_170681.2;GFM2,missense_variant,p.Asn223Ser,ENST00000509097,;GFM2,upstream_gene_variant,,ENST00000513331,;							MODERATE	794/2340	N265S	RRF2M_HUMAN			Transcript		benign(0.001)	.	ENSP00000296805		CCDS4023.1			1	
AC034198.7	0	LGGM	GRCh37	3	12892220	12892220	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	33	12	.	.	ENST00000502828.2:n.63C>T		*21*	ENST00000502828				0	1	1		0		ENST00000502828		ENSG00000250939		8.68E-05	45			Clone_based_vega_gene	p.L110L	rs745484121	AC034198.7	0.000122	SNV							ENST00000454887	transcribed_unprocessed_pseudogene							T		63/202	3.00E-05						YES	CAND2,synonymous_variant,p.=,ENST00000454887,;AC034198.7,non_coding_transcript_exon_variant,,ENST00000502828,;							MODIFIER						Transcript			.		4.12E-05				1	
SNTG1	0	LGGM	GRCh37	8	51363145	51363145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	42	12	.	.	ENST00000522124.1:c.307G>T	p.Asp103Tyr	p.D103Y	ENST00000522124	NM_018967.2	103	Gat/Tat	0	1		UPI000004A0DD	0	getma.org/pdb.php?prot=SNTG1_HUMAN&from=57&to=137&var=D103Y	ENST00000518864		ENSG00000147481	13740		54	3.79		HGNC	p.D103Y		SNTG1		SNV							ENST00000276467	protein_coding	getma.org/?cm=var&var=hg19,8,51363145,G,T&fts=all		Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF2,PROSITE_profiles:PS50106		D/Y		T	high	678/1925		getma.org/?cm=msa&ty=f&p=SNTG1_HUMAN&rb=57&re=137&var=D103Y	deleterious(0)	E5RIN0_HUMAN				SNTG1,missense_variant,p.Asp103Tyr,ENST00000522124,NM_018967.2,NM_001287813.1;SNTG1,missense_variant,p.Asp103Tyr,ENST00000518864,;SNTG1,missense_variant,p.Asp103Tyr,ENST00000517473,NM_001287814.1;SNTG1,missense_variant,p.Asp103Tyr,ENST00000276467,;SNTG1,downstream_gene_variant,,ENST00000523085,;SNTG1,missense_variant,p.Asp103Tyr,ENST00000520825,;							MODERATE	307/1554	D103Y	SNTG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000429276		CCDS6147.1			1	
CHRD	0	LGGM	GRCh37	3	184103858	184103858	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	23	12	.	.	ENST00000204604.1:c.1843G>A	p.Glu615Lys	p.E615K	ENST00000204604	NM_003741.2	615	Gag/Aag	0	1	1	UPI000013C64D	0	NA	ENST00000204604		ENSG00000090539	1949		35	1.04		HGNC	p.E575K		CHRD		SNV							ENST00000348986	protein_coding	getma.org/?cm=var&var=hg19,3,184103858,G,A&fts=all		Pfam_domain:PF07452,PIRSF_domain:PIRSF002496,PROSITE_profiles:PS50933,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,SMART_domains:SM00754		E/K		A	low	2089/3521		getma.org/?cm=msa&ty=f&p=CHRD_HUMAN&rb=532&re=646&var=E615K	tolerated(0.06)	Q8N2W7_HUMAN			YES	CHRD,missense_variant,p.Glu615Lys,ENST00000204604,NM_003741.2;CHRD,missense_variant,p.Glu615Lys,ENST00000450923,;CHRD,missense_variant,p.Glu575Lys,ENST00000348986,;CHRD,missense_variant,p.Glu245Lys,ENST00000545352,;EIF2B5,intron_variant,,ENST00000444495,;CHRD,downstream_gene_variant,,ENST00000310236,;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,,ENST00000496527,;CHRD,downstream_gene_variant,,ENST00000485883,;CHRD,downstream_gene_variant,,ENST00000482014,;CHRD,downstream_gene_variant,,ENST00000486066,;CHRD,downstream_gene_variant,,ENST00000459711,;							MODERATE	1843/2868	E615K	CHRD_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000204604		CCDS3266.1			1	
FCN2	0	LGGM	GRCh37	9	137778324	137778324	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	44	12	.	.	ENST00000291744.6:c.608A>G	p.Gln203Arg	p.Q203R	ENST00000291744	NM_004108.2	203	cAg/cGg	0	1	1	UPI000013E075	0	getma.org/pdb.php?prot=FCN2_HUMAN&from=101&to=313&var=Q203R	ENST00000291744		ENSG00000160339	3624		56	-0.59		HGNC	p.Q203R	rs749018805	FCN2		SNV							ENST00000291744	protein_coding	getma.org/?cm=var&var=hg19,9,137778324,A,G&fts=all		Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF179,PROSITE_profiles:PS51406		Q/R		G	neutral	618/1057	1.50E-05	getma.org/?cm=msa&ty=f&p=FCN2_HUMAN&rb=101&re=313&var=Q203R	tolerated(0.56)				YES	FCN2,missense_variant,p.Gln165Arg,ENST00000350339,NM_015837.2;FCN2,missense_variant,p.Gln203Arg,ENST00000291744,NM_004108.2;							MODERATE	608/942	Q203R	FCN2_HUMAN			Transcript		benign(0.018)	.	ENSP00000291744	8.24E-06	CCDS6983.1			1	
ZNF556	0	LGGM	GRCh37	19	2873513	2873513	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	27	12	.	.	ENST00000307635.2:c.23A>C	p.Asp8Ala	p.D8A	ENST00000307635	NM_024967.1	8	gAc/gCc	0	1	1	UPI000006DA0F	0	getma.org/pdb.php?prot=ZN556_HUMAN&from=4&to=44&var=D8A	ENST00000307635		ENSG00000172000	25669		39	4.225		HGNC	p.D8A		ZNF556		SNV							ENST00000586470	protein_coding	getma.org/?cm=var&var=hg19,19,2873513,A,C&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF142,Low_complexity_(Seg):seg,SMART_domains:SM00349		D/A		C	high	110/1632		getma.org/?cm=msa&ty=f&p=ZN556_HUMAN&rb=4&re=44&var=D8A	deleterious(0)				YES	ZNF556,missense_variant,p.Asp8Ala,ENST00000586426,;ZNF556,missense_variant,p.Asp8Ala,ENST00000307635,NM_024967.1;AC006130.1,upstream_gene_variant,,ENST00000579582,;ZNF556,missense_variant,p.Asp8Ala,ENST00000586470,;AC006130.4,downstream_gene_variant,,ENST00000586202,;							MODERATE	23/1371	D8A	ZN556_HUMAN			Transcript		unknown(0)	.	ENSP00000302603		CCDS12097.1			1	
ZNF567	0	LGGM	GRCh37	19	37210479	37210479	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	19	13	.	.	ENST00000585696.1:c.760C>T	p.Gln254Ter	p.Q254*	ENST00000585696		254	Caa/Taa	0	1		UPI000022A7F5	0	NA	ENST00000536254		ENSG00000189042	28696		32	0		HGNC	p.Q285X		ZNF567		SNV							ENST00000536254	protein_coding	getma.org/?cm=var&var=hg19,19,37210479,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/*		T	NA	1075/2825		NA						ZNF567,stop_gained,p.Gln254Ter,ENST00000585696,;ZNF567,stop_gained,p.Gln285Ter,ENST00000536254,;ZNF567,stop_gained,p.Gln254Ter,ENST00000360729,NM_152603.2;ZNF567,stop_gained,p.Gln254Ter,ENST00000588311,;ZNF567,stop_gained,p.Gln254Ter,ENST00000392163,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000589264,;ZNF567,intron_variant,,ENST00000591308,;							HIGH	853/1944	Q285*	ZN567_HUMAN			Transcript			.	ENSP00000441838					1	
UBR2	0	LGGM	GRCh37	6	42573477	42573477	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	20	13	.	.	ENST00000372899.1:c.681C>T	p.Tyr227=	p.Y227=	ENST00000372899	NM_015255.2	227	taC/taT	0	1	1	UPI0000074466	0		ENST00000372899		ENSG00000024048	21289		33			HGNC	p.Y227Y		UBR2		SNV							ENST00000372903	protein_coding			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28,Pfam_domain:PF02617,Gene3D:3.30.1390.10,Superfamily_domains:SSF54736		Y		T		939/7857				B3KXG6_HUMAN			YES	UBR2,synonymous_variant,p.=,ENST00000372899,NM_015255.2;UBR2,synonymous_variant,p.=,ENST00000372901,;UBR2,synonymous_variant,p.=,ENST00000372903,NM_001184801.1;							LOW	681/5268		UBR2_HUMAN			Transcript			.	ENSP00000361990		CCDS4870.1			1	
PRMT10	0	LGGM	GRCh37	4	148582128	148582128	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	36	13	.	.	ENST00000322396.6:c.1015G>A	p.Ala339Thr	p.A339T	ENST00000322396	NM_138364.2	339	Gct/Act	0	1	1	UPI000004971D	0	NA	ENST00000322396		ENSG00000164169	25099		49	0.69		HGNC	p.A226T		PRMT10		SNV							ENST00000541232	protein_coding	getma.org/?cm=var&var=hg19,4,148582128,C,T&fts=all		PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48,Gene3D:2.70.160.11,Superfamily_domains:SSF53335		A/T		T	neutral	1258/3528		getma.org/?cm=msa&ty=f&p=ANM10_HUMAN&rb=258&re=457&var=A339T	tolerated(0.56)	B3KU92_HUMAN			YES	PRMT10,missense_variant,p.Ala339Thr,ENST00000322396,NM_138364.2;PRMT10,missense_variant,p.Ala226Thr,ENST00000541232,;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,3_prime_UTR_variant,,ENST00000514886,;PRMT10,non_coding_transcript_exon_variant,,ENST00000510269,;							MODERATE	1015/2538	A339T	ANM10_HUMAN			Transcript		benign(0.002)	.	ENSP00000314396		CCDS3771.1			1	
CPSF4	0	LGGM	GRCh37	7	99047993	99047993	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	16	13	.	.	ENST00000292476.5:c.402C>T	p.His134=	p.H134=	ENST00000292476		134	caC/caT	0	1	1	UPI0000072392	0		ENST00000292476		ENSG00000160917	2327		29			HGNC	p.H134H	rs763521903	CPSF4		SNV							ENST00000292476	protein_coding			PROSITE_profiles:PS50103,hmmpanther:PTHR23102,hmmpanther:PTHR23102:SF18,SMART_domains:SM00356		H		T		412/1691	6.23E-05			C9K0K2_HUMAN			YES	CPSF4,splice_region_variant,p.=,ENST00000436336,NM_006693.2,NM_001081559.1;CPSF4,splice_region_variant,p.=,ENST00000292476,;CPSF4,splice_region_variant,p.=,ENST00000441580,;CPSF4,splice_region_variant,p.=,ENST00000412686,;CPSF4,splice_region_variant,p.=,ENST00000452047,;CPSF4,splice_region_variant,p.=,ENST00000440514,;PTCD1,intron_variant,,ENST00000555673,NM_001198879.1;ATP5J2-PTCD1,intron_variant,,ENST00000413834,;CPSF4,intron_variant,,ENST00000451876,;PTCD1,intron_variant,,ENST00000430982,;CPSF4,splice_region_variant,,ENST00000471455,;ATP5J2,intron_variant,,ENST00000466753,;ATP5J2-PTCD1,intron_variant,,ENST00000437572,;CPSF4,splice_region_variant,,ENST00000484112,;CPSF4,splice_region_variant,,ENST00000430038,;ATP5J2,intron_variant,,ENST00000414062,;ATP5J2-PTCD1,intron_variant,,ENST00000451138,;CPSF4,upstream_gene_variant,,ENST00000465132,;CPSF4,upstream_gene_variant,,ENST00000469897,;CPSF4,upstream_gene_variant,,ENST00000482251,;	0.000118						LOW	402/810		CPSF4_HUMAN			Transcript			.	ENSP00000292476	4.12E-05	CCDS5664.1			1	
REXO1	0	LGGM	GRCh37	19	1820302	1820302	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	34	13	.	.	ENST00000170168.4:c.2487T>C	p.Cys829=	p.C829=	ENST00000170168	NM_020695.3	829	tgT/tgC	0	1	1	UPI0000202F63	0		ENST00000170168		ENSG00000079313	24616		47			HGNC	p.C829C		REXO1		SNV							ENST00000170168	protein_coding			hmmpanther:PTHR12801:SF62,hmmpanther:PTHR12801		C		G		2582/4578							YES	REXO1,synonymous_variant,p.=,ENST00000170168,NM_020695.3;MIR1909,upstream_gene_variant,,ENST00000411312,;CTB-31O20.4,upstream_gene_variant,,ENST00000593201,;CTB-31O20.4,upstream_gene_variant,,ENST00000587741,;CTB-31O20.3,downstream_gene_variant,,ENST00000586259,;CTB-31O20.4,upstream_gene_variant,,ENST00000590531,;REXO1,non_coding_transcript_exon_variant,,ENST00000586343,;CTB-31O20.4,upstream_gene_variant,,ENST00000590823,;REXO1,upstream_gene_variant,,ENST00000590936,;REXO1,upstream_gene_variant,,ENST00000586291,;REXO1,upstream_gene_variant,,ENST00000588743,;REXO1,upstream_gene_variant,,ENST00000587404,;							LOW	2487/3666		REXO1_HUMAN			Transcript			.	ENSP00000170168		CCDS32866.1			1	
RNF111	0	LGGM	GRCh37	15	59373427	59373427	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	35	13	.	.	ENST00000559209.1:c.2241T>G	p.Pro747=	p.P747=	ENST00000559209		747	ccT/ccG	0	1		UPI0000D6134A	0		ENST00000557998		ENSG00000157450	17384		48			HGNC	p.P747P		RNF111		SNV							ENST00000559209	protein_coding			hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF1		P		G		2528/4803				H0YKS2_HUMAN				RNF111,synonymous_variant,p.=,ENST00000348370,NM_001270528.1,NM_001270529.1,NM_017610.7;RNF111,synonymous_variant,p.=,ENST00000434298,;RNF111,synonymous_variant,p.=,ENST00000559209,;RNF111,synonymous_variant,p.=,ENST00000557998,NM_001270530.1;RNF111,synonymous_variant,p.=,ENST00000561186,;RNF111,non_coding_transcript_exon_variant,,ENST00000558977,;RNF111,upstream_gene_variant,,ENST00000560952,;RNF111,upstream_gene_variant,,ENST00000560216,;RNF111,upstream_gene_variant,,ENST00000559077,;							LOW	2241/2985		RN111_HUMAN			Transcript			.	ENSP00000452732		CCDS58366.1			1	
CSMD1	0	LGGM	GRCh37	8	2830638	2830638	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	52	14	.	.	ENST00000537824.1:c.8923+1G>T		p.X2975_splice	ENST00000537824	NM_033225.5			0	1	1	UPI0001B723C6	0		ENST00000537824		ENSG00000183117	14026		66			HGNC	-		CSMD1		SNV							ENST00000335551	protein_coding							A		-/10695				F5GZ18_HUMAN			YES	CSMD1,splice_donor_variant,,ENST00000335551,;CSMD1,splice_donor_variant,,ENST00000602557,;CSMD1,splice_donor_variant,,ENST00000520002,;CSMD1,splice_donor_variant,,ENST00000602723,;CSMD1,splice_donor_variant,,ENST00000400186,;CSMD1,splice_donor_variant,,ENST00000537824,NM_033225.5;CSMD1,splice_donor_variant,,ENST00000542608,;							HIGH	8923/10695					Transcript			.	ENSP00000441462		CCDS55189.1			1	
NDFIP2	0	LGGM	GRCh37	13	80113848	80113848	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	34	14	.	.	ENST00000218652.7:c.653A>G	p.Asp218Gly	p.D218G	ENST00000218652	NM_001161407.1	218	gAc/gGc	0	1	1	UPI000015F962	0	NA	ENST00000218652		ENSG00000102471	18537		48	1.87		HGNC	p.D218G		NDFIP2		SNV							ENST00000218652	protein_coding	getma.org/?cm=var&var=hg19,13,80113848,A,G&fts=all		hmmpanther:PTHR13396,hmmpanther:PTHR13396:SF4,Pfam_domain:PF10176		D/G		G	low	705/4625		getma.org/?cm=msa&ty=f&p=NFIP2_HUMAN&rb=169&re=288&var=D218G	deleterious(0.02)				YES	NDFIP2,missense_variant,p.Asp218Gly,ENST00000218652,NM_001161407.1,NM_019080.2;NDFIP2,missense_variant,p.Asp135Gly,ENST00000487865,;NDFIP2,missense_variant,p.Asp134Gly,ENST00000465762,;							MODERATE	653/1011	D218G	NFIP2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000218652		CCDS31998.1			1	
NSUN7	0	LGGM	GRCh37	4	40776811	40776811	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	42	14	.	.	ENST00000381782.2:c.669G>T	p.Lys223Asn	p.K223N	ENST00000381782	NM_024677.4	223	aaG/aaT	0	1	1	UPI000066D9E8	0	getma.org/pdb.php?prot=NSUN7_HUMAN&from=201&to=309&var=K223N	ENST00000381782		ENSG00000179299	25857		56	1.83		HGNC	p.K223N		NSUN7		SNV							ENST00000381782	protein_coding	getma.org/?cm=var&var=hg19,4,40776811,G,T&fts=all		PROSITE_profiles:PS51686,hmmpanther:PTHR14663:SF2,hmmpanther:PTHR14663,Superfamily_domains:SSF53335		K/N		T	low	1164/3698		getma.org/?cm=msa&ty=f&p=NSUN7_HUMAN&rb=201&re=309&var=K223N	deleterious(0)	B4E1Z6_HUMAN			YES	NSUN7,missense_variant,p.Lys223Asn,ENST00000381782,NM_024677.4;NSUN7,missense_variant,p.Lys223Asn,ENST00000316607,;NSUN7,non_coding_transcript_exon_variant,,ENST00000463952,;NSUN7,upstream_gene_variant,,ENST00000423784,;NSUN7,non_coding_transcript_exon_variant,,ENST00000473399,;NSUN7,non_coding_transcript_exon_variant,,ENST00000469033,;							MODERATE	669/2157	K223N	NSUN7_HUMAN			Transcript		benign(0.365)	.	ENSP00000371201		CCDS3461.2			1	
CSMD1	0	LGGM	GRCh37	8	2830639	2830639	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	53	14	.	.	ENST00000537824.1:c.8923G>T	p.Ala2975Ser	p.A2975S	ENST00000537824	NM_033225.5	2975	Gcc/Tcc	0	1	1	UPI0001B723C6	0	NA	ENST00000537824		ENSG00000183117	14026		67	2.43		HGNC	p.A2918S		CSMD1		SNV							ENST00000400186	protein_coding	getma.org/?cm=var&var=hg19,8,2830639,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Superfamily_domains:SSF57535		A/S		A	medium	8923/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=2919&re=2976&var=A2976S		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Ala2393Ser,ENST00000335551,;CSMD1,missense_variant,p.Ala2976Ser,ENST00000602557,;CSMD1,missense_variant,p.Ala2976Ser,ENST00000520002,;CSMD1,missense_variant,p.Ala2918Ser,ENST00000400186,;CSMD1,missense_variant,p.Ala2918Ser,ENST00000602723,;CSMD1,missense_variant,p.Ala2975Ser,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Ala2917Ser,ENST00000542608,;							MODERATE	8923/10695	A2976S				Transcript		benign(0.06)	.	ENSP00000441462		CCDS55189.1			1	
EFCC1	0	LGGM	GRCh37	3	128757722	128757722	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	55	14	.	.	ENST00000480450.1:c.1639G>A	p.Ala547Thr	p.A547T	ENST00000480450		547	Gct/Act	0	1		UPI00000707F7	0	NA	ENST00000436022		ENSG00000114654	25692	0.000173	69	1.39		HGNC	p.A110T	rs752091923	EFCC1	0.000424	SNV							ENST00000436022	protein_coding	getma.org/?cm=var&var=hg19,3,128757722,G,A&fts=all				A/T		A	low	1639/2691		getma.org/?cm=msa&ty=f&p=CCD48_HUMAN&rb=528&re=598&var=A547T						EFCC1,missense_variant,p.Ala110Thr,ENST00000436022,NM_024768.2;EFCC1,missense_variant,p.Ala547Thr,ENST00000480450,;EFCC1,non_coding_transcript_exon_variant,,ENST00000481536,;	0.000116						MODERATE	328/486	A547T	EFCC1_HUMAN			Transcript		benign(0.012)	common_variant	ENSP00000414597	8.24E-05				1	
KRAS	0	LGGM	GRCh37	12	25362813	25362813	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	17	14	.	.	ENST00000256078.4:c.*37A>T		*13*	ENST00000256078	NM_033360.2			0	1	1	UPI0000133132	0		ENST00000256078		ENSG00000133703	6407		31			HGNC	p.R161R		KRAS		SNV			1				ENST00000311936	protein_coding							A		671/1119				Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN			YES	KRAS,synonymous_variant,p.=,ENST00000311936,NM_004985.3;KRAS,synonymous_variant,p.=,ENST00000557334,;KRAS,3_prime_UTR_variant,,ENST00000256078,NM_033360.2;LYRM5,downstream_gene_variant,,ENST00000557540,;LYRM5,downstream_gene_variant,,ENST00000381356,NM_001001660.2;LYRM5,downstream_gene_variant,,ENST00000556885,;LYRM5,downstream_gene_variant,,ENST00000553788,;							MODIFIER	-/570		RASK_HUMAN			Transcript			.	ENSP00000256078		CCDS8703.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64608186	64608186	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	29	15	.	.	ENST00000498707.1:c.2466T>C	p.Ile822=	p.I822=	ENST00000498707	NM_182920.1	822	atT/atC	0	1	1	UPI00000463F0	0		ENST00000498707		ENSG00000163638	13202		44			HGNC	p.I794I		ADAMTS9		SNV							ENST00000295903	protein_coding			hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF05986		I		G		2809/7464				B4E0E4_HUMAN			YES	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;							LOW	2466/5808		ATS9_HUMAN			Transcript			.	ENSP00000418735		CCDS2903.1			1	
GPR125	0	LGGM	GRCh37	4	22403167	22403167	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	38	15	.	.	ENST00000334304.5:c.2368A>G	p.Ile790Val	p.I790V	ENST00000334304	NM_145290.3	790	Atc/Gtc	0	1	1	UPI00001D7735	0	NA	ENST00000334304		ENSG00000152990	13839		53	0.785		HGNC	p.I790V		GPR125		SNV							ENST00000334304	protein_coding	getma.org/?cm=var&var=hg19,4,22403167,T,C&fts=all		Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35,PROSITE_profiles:PS50261		I/V		C	neutral	2638/4557		getma.org/?cm=msa&ty=f&p=GP125_HUMAN&rb=756&re=1043&var=I790V	tolerated(0.54)	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN			YES	GPR125,missense_variant,p.Ile790Val,ENST00000334304,NM_145290.3;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;GPR125,intron_variant,,ENST00000504617,;GPR125,upstream_gene_variant,,ENST00000511051,;							MODERATE	2368/3966	I790V	GP125_HUMAN			Transcript		benign(0.014)	.	ENSP00000334952		CCDS33964.1			1	
PCDH18	0	LGGM	GRCh37	4	138452929	138452929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	68	15	.	.	ENST00000344876.4:c.314C>A	p.Ser105Tyr	p.S105Y	ENST00000344876	NM_019035.3	105	tCc/tAc	0	1	1	UPI0000047A88	0	getma.org/pdb.php?prot=PCD18_HUMAN&from=28&to=113&var=S105Y	ENST00000344876		ENSG00000189184	14268		83	1.75		HGNC	p.S105Y		PCDH18		SNV							ENST00000344876	protein_coding	getma.org/?cm=var&var=hg19,4,138452929,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF08266,SMART_domains:SM00112		S/Y		T	low	701/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=28&re=113&var=S105Y	tolerated(0.06)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Ser105Tyr,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Ser105Tyr,ENST00000412923,;PCDH18,intron_variant,,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;							MODERATE	314/3408	S105Y	PCD18_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000355082		CCDS34064.1			1	
TGM5	0	LGGM	GRCh37	15	43527954	43527954	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	21	15	.	.	ENST00000220420.5:c.1427C>A	p.Ala476Glu	p.A476E	ENST00000220420	NM_201631.3	476	gCa/gAa	0	1	1	UPI0000136CCF	0	getma.org/pdb.php?prot=TGM5_HUMAN&from=362&to=506&var=A476E	ENST00000220420		ENSG00000104055	11781		36	0		HGNC	p.A394E		TGM5		SNV			1				ENST00000349114	protein_coding	getma.org/?cm=var&var=hg19,15,43527954,G,T&fts=all		PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590		A/E		T	neutral	1435/2767		getma.org/?cm=msa&ty=f&p=TGM5_HUMAN&rb=362&re=506&var=A476E	tolerated(0.61)				YES	TGM5,missense_variant,p.Ala476Glu,ENST00000220420,NM_201631.3;TGM5,missense_variant,p.Ala394Glu,ENST00000349114,NM_004245.3;TGM5,non_coding_transcript_exon_variant,,ENST00000396996,;TGM5,downstream_gene_variant,,ENST00000563838,;							MODERATE	1427/2163	A476E	TGM5_HUMAN			Transcript		benign(0.007)	.	ENSP00000220420		CCDS32212.1			1	
CCNI	0	LGGM	GRCh37	4	77977446	77977446	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	37	15	.	.	ENST00000237654.4:c.274A>G	p.Ile92Val	p.I92V	ENST00000237654	NM_006835.2	92	Atc/Gtc	0	1	1	UPI000000D8E4	0	getma.org/pdb.php?prot=CCNI_HUMAN&from=14&to=143&var=I92V	ENST00000237654		ENSG00000118816	1595		52	0.705		HGNC	p.I92V		CCNI		SNV							ENST00000237654	protein_coding	getma.org/?cm=var&var=hg19,4,77977446,T,C&fts=all		Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF187,SMART_domains:SM00385,Superfamily_domains:SSF47954		I/V		C	neutral	851/2772		getma.org/?cm=msa&ty=f&p=CCNI_HUMAN&rb=14&re=143&var=I92V	tolerated(0.24)	D6RH01_HUMAN,D6RG12_HUMAN			YES	CCNI,missense_variant,p.Ile92Val,ENST00000237654,NM_006835.2;CCNI,missense_variant,p.Ile78Val,ENST00000537948,;CCNI,missense_variant,p.Ile92Val,ENST00000505609,;CCNI,upstream_gene_variant,,ENST00000515468,;CCNI,downstream_gene_variant,,ENST00000507788,;CCNI,downstream_gene_variant,,ENST00000513774,;CCNI,non_coding_transcript_exon_variant,,ENST00000504697,;CCNI,non_coding_transcript_exon_variant,,ENST00000506614,;CCNI,intron_variant,,ENST00000511943,;							MODERATE	274/1134	I92V	CCNI_HUMAN			Transcript		benign(0.383)	.	ENSP00000237654		CCDS3580.1			1	
ZNF470	0	LGGM	GRCh37	19	57088358	57088358	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	30	15	.	.	ENST00000330619.8:c.561T>G	p.Ser187=	p.S187=	ENST00000330619	NM_001001668.3	187	tcT/tcG	0	1	1	UPI0000D61826	0		ENST00000330619		ENSG00000197016	22220		45			HGNC	p.S187S		ZNF470		SNV							ENST00000391709	protein_coding			hmmpanther:PTHR24377		S		G		1247/7151							YES	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,;							LOW	561/2154		ZN470_HUMAN			Transcript			.	ENSP00000333223		CCDS33122.1			1	
CENPF	0	LGGM	GRCh37	1	214816586	214816586	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	48	16	.	.	ENST00000366955.3:c.4905A>G	p.Ser1635=	p.S1635=	ENST00000366955	NM_016343.3	1635	tcA/tcG	0	1	1	UPI00001AE985	0		ENST00000366955		ENSG00000117724	1857		64			HGNC	p.S1635S		CENPF		SNV							ENST00000366955	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874		S		G		5073/10307							YES	CENPF,synonymous_variant,p.=,ENST00000366955,NM_016343.3;							LOW	4905/9345		CENPF_HUMAN			Transcript			.	ENSP00000355922		CCDS31023.1			1	
ZNF215	0	LGGM	GRCh37	11	6953558	6953558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	54	16	.	.	ENST00000278319.5:c.55C>A	p.Arg19Ser	p.R19S	ENST00000278319	NM_013250.2	19	Cgt/Agt	0	1	1	UPI000013DB6D	0	NA	ENST00000278319		ENSG00000149054	13007		70	-0.345		HGNC	p.R19S		ZNF215		SNV							ENST00000278319	protein_coding	getma.org/?cm=var&var=hg19,11,6953558,C,A&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65		R/S		A	neutral	643/3448		getma.org/?cm=msa&ty=f&p=ZN215_HUMAN&rb=1&re=41&var=R19S	tolerated(0.37)				YES	ZNF215,missense_variant,p.Arg19Ser,ENST00000278319,NM_013250.2;ZNF215,missense_variant,p.Arg19Ser,ENST00000414517,;ZNF215,missense_variant,p.Arg19Ser,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000527171,;ZNF215,non_coding_transcript_exon_variant,,ENST00000529755,;							MODERATE	55/1554	R19S	ZN215_HUMAN			Transcript		benign(0.005)	.	ENSP00000278319		CCDS7775.1			1	
SLC8A1	0	LGGM	GRCh37	2	40656940	40656940	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	28	16	.	.	ENST00000403092.1:c.481T>C	p.Phe161Leu	p.F161L	ENST00000403092		161	Ttc/Ctc	0	1		UPI000012FC46	0	NA	ENST00000332839		ENSG00000183023	11068		44	2.65		HGNC	p.F161L		SLC8A1		SNV							ENST00000402441	protein_coding	getma.org/?cm=var&var=hg19,2,40656940,A,G&fts=all		Pfam_domain:PF01699,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845		F/L		G	medium	481/2922		getma.org/?cm=msa&ty=f&p=NAC1_HUMAN&rb=90&re=249&var=F161L	deleterious(0)	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN				SLC8A1,missense_variant,p.Phe161Leu,ENST00000406785,;SLC8A1,missense_variant,p.Phe161Leu,ENST00000542756,;SLC8A1,missense_variant,p.Phe161Leu,ENST00000403092,;SLC8A1,missense_variant,p.Phe161Leu,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Phe161Leu,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Phe161Leu,ENST00000405269,;SLC8A1,missense_variant,p.Phe161Leu,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Phe161Leu,ENST00000408028,NM_001252624.1;SLC8A1,missense_variant,p.Phe161Leu,ENST00000542024,;SLC8A1,missense_variant,p.Phe161Leu,ENST00000406391,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Phe158Leu,ENST00000407929,;							MODERATE	481/2922	F161L	NAC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332931		CCDS1806.1			1	
HIST1H3B	0	LGGM	GRCh37	6	26032128	26032128	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	57	16	.	.	ENST00000244661.2:c.161G>A	p.Arg54His	p.R54H	ENST00000244661	NM_003537.3	54	cGc/cAc	0	1	1	UPI00000003C7	0		ENST00000244661		ENSG00000124693	4776		73			HGNC	p.R54H		HIST1H3B		SNV							ENST00000244661	protein_coding			hmmpanther:PTHR11426,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622		R/H		T		161/472			tolerated_low_confidence(0.05)				YES	HIST1H3B,missense_variant,p.Arg54His,ENST00000244661,NM_003537.3;HIST1H2AB,downstream_gene_variant,,ENST00000259791,NM_003513.2;HIST1H4B,upstream_gene_variant,,ENST00000377364,NM_003544.2;							MODERATE	161/411		H31_HUMAN			Transcript		benign(0.18)	.	ENSP00000244661		CCDS4573.1			1	
GPR125	0	LGGM	GRCh37	4	22403122	22403122	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	52	17	.	.	ENST00000334304.5:c.2413A>G	p.Ile805Val	p.I805V	ENST00000334304	NM_145290.3	805	Att/Gtt	0	1	1	UPI00001D7735	0	NA	ENST00000334304		ENSG00000152990	13839		69	0.49		HGNC	p.I805V		GPR125		SNV							ENST00000334304	protein_coding	getma.org/?cm=var&var=hg19,4,22403122,T,C&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35,PROSITE_profiles:PS50261		I/V		C	neutral	2683/4557		getma.org/?cm=msa&ty=f&p=GP125_HUMAN&rb=756&re=1043&var=I805V	tolerated(0.13)	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN			YES	GPR125,missense_variant,p.Ile805Val,ENST00000334304,NM_145290.3;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;GPR125,intron_variant,,ENST00000504617,;GPR125,5_prime_UTR_variant,,ENST00000511051,;							MODERATE	2413/3966	I805V	GP125_HUMAN			Transcript		benign(0.009)	.	ENSP00000334952		CCDS33964.1			1	
ZNF292	0	LGGM	GRCh37	6	87967815	87967815	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	49	17	.	.	ENST00000369577.3:c.4468A>G	p.Ile1490Val	p.I1490V	ENST00000369577	NM_015021.1	1490	Att/Gtt	0	1	1	UPI000020D2CC	0	NA	ENST00000369577		ENSG00000188994	18410		66	0.695		HGNC	p.I1490V		ZNF292		SNV							ENST00000369577	protein_coding	getma.org/?cm=var&var=hg19,6,87967815,A,G&fts=all		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14		I/V		G	neutral	4511/10610		getma.org/?cm=msa&ty=f&p=ZN292_HUMAN&rb=1414&re=1828&var=I1490V	deleterious(0.02)	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN			YES	ZNF292,missense_variant,p.Ile1490Val,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Ile1485Val,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;							MODERATE	4468/8172	I1490V	ZN292_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000358590		CCDS47457.1			1	
AMBRA1	0	LGGM	GRCh37	11	46564133	46564133	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	33	17	.	.	ENST00000314845.3:c.1164A>G	p.Ala388=	p.A388=	ENST00000314845	NM_017749.3	388	gcA/gcG	0	1		UPI0001627788	0		ENST00000458649		ENSG00000110497	25990		50			HGNC	p.A388A		AMBRA1		SNV							ENST00000314845	protein_coding			hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874		A		C		1853/5351				E9PL55_HUMAN				AMBRA1,synonymous_variant,p.=,ENST00000458649,;AMBRA1,synonymous_variant,p.=,ENST00000426438,;AMBRA1,synonymous_variant,p.=,ENST00000298834,;AMBRA1,synonymous_variant,p.=,ENST00000534300,NM_001267782.1;AMBRA1,synonymous_variant,p.=,ENST00000314845,NM_017749.3;AMBRA1,synonymous_variant,p.=,ENST00000533727,NM_001267783.1;AMBRA1,synonymous_variant,p.=,ENST00000528950,;AMBRA1,downstream_gene_variant,,ENST00000531542,;AMBRA1,downstream_gene_variant,,ENST00000524783,;							LOW	1434/3897		AMRA1_HUMAN			Transcript			.	ENSP00000415327					1	
ATM	0	LGGM	GRCh37	11	108124733	108124733	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	46	17	.	.	ENST00000278616.4:c.2091A>G	p.Leu697=	p.L697=	ENST00000278616	NM_000051.3	697	ttA/ttG	0	1	1	UPI0000DBEF44	0		ENST00000278616		ENSG00000149311	795		63			HGNC	p.L697L		ATM		SNV			1				ENST00000527805	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66		L		G		2476/13147				M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,synonymous_variant,p.=,ENST00000278616,NM_000051.3;ATM,synonymous_variant,p.=,ENST00000452508,;ATM,synonymous_variant,p.=,ENST00000527805,;ATM,downstream_gene_variant,,ENST00000525012,;ATM,downstream_gene_variant,,ENST00000533526,;							LOW	2091/9171		ATM_HUMAN			Transcript			.	ENSP00000278616		CCDS31669.1			1	
NWD1	0	LGGM	GRCh37	19	16918716	16918716	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	64	18	.	.	ENST00000524140.2:c.4056C>T	p.Ser1352=	p.S1352=	ENST00000524140	NM_001007525.3	1352	tcC/tcT	0	1		UPI0001AE63B7	0		ENST00000552788		ENSG00000188039	27619		82			HGNC	p.S1310S		NWD1		SNV							ENST00000549814	protein_coding			Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273		S		T		4056/6964				E9PBV1_HUMAN				NWD1,synonymous_variant,p.=,ENST00000524140,NM_001007525.3;NWD1,synonymous_variant,p.=,ENST00000552788,;NWD1,synonymous_variant,p.=,ENST00000549814,;NWD1,synonymous_variant,p.=,ENST00000523826,;NWD1,synonymous_variant,p.=,ENST00000379808,;NWD1,synonymous_variant,p.=,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							LOW	4056/4695		NWD1_HUMAN			Transcript			.	ENSP00000447224					1	
C6orf62	0	LGGM	GRCh37	6	24714613	24714613	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	44	19	.	.	ENST00000378119.4:c.362T>C	p.Ile121Thr	p.I121T	ENST00000378119	NM_030939.4	121	aTt/aCt	0	1	1	UPI000000DC64	0	NA	ENST00000378119		ENSG00000112308	20998		63	0.695		HGNC	p.I63T		C6orf62		SNV							ENST00000540769	protein_coding	getma.org/?cm=var&var=hg19,6,24714613,A,G&fts=all		Pfam_domain:PF15130		I/T		G	neutral	2530/4134		getma.org/?cm=msa&ty=f&p=CF062_HUMAN&rb=1&re=227&var=I121T	deleterious(0)	B4DWX7_HUMAN			YES	C6orf62,missense_variant,p.Ile121Thr,ENST00000378119,NM_030939.4;C6orf62,missense_variant,p.Ile63Thr,ENST00000540769,;C6orf62,missense_variant,p.Ile92Thr,ENST00000378102,;							MODERATE	362/690	I121T	CF062_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000367359		CCDS4559.1			1	
TIMM17A	0	LGGM	GRCh37	1	201938619	201938619	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	59	19	.	.	ENST00000367287.4:c.453C>T	p.Pro151=	p.P151=	ENST00000367287	NM_006335.2	151	ccC/ccT	0	1	1	UPI000012D5E6	0		ENST00000367287		ENSG00000134375	17315		78			HGNC	p.P151P		TIMM17A		SNV							ENST00000367287	protein_coding			hmmpanther:PTHR10485,hmmpanther:PTHR10485:SF1,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00980		P		T		489/1659							YES	TIMM17A,synonymous_variant,p.=,ENST00000367287,NM_006335.2;TIMM17A,non_coding_transcript_exon_variant,,ENST00000482943,;TIMM17A,non_coding_transcript_exon_variant,,ENST00000478378,;							LOW	453/516		TI17A_HUMAN			Transcript			.	ENSP00000356256		CCDS1417.1			1	
ITGB8	0	LGGM	GRCh37	7	20438507	20438507	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	19	19	.	.	ENST00000222573.4:c.1171C>T	p.Gln391Ter	p.Q391*	ENST00000222573	NM_002214.2	391	Cag/Tag	0	1	1	UPI000012DA14	0	NA	ENST00000222573		ENSG00000105855	6163		38	0		HGNC	p.Q391X		ITGB8		SNV							ENST00000222573	protein_coding	getma.org/?cm=var&var=hg19,7,20438507,C,T&fts=all		hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,SMART_domains:SM00187,Superfamily_domains:SSF69179		Q/*		T	NA	1855/8751		NA		B4DHD4_HUMAN			YES	ITGB8,stop_gained,p.Gln391Ter,ENST00000222573,NM_002214.2;ITGB8,stop_gained,p.Gln256Ter,ENST00000537992,;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,;							HIGH	1171/2310	Q391*	ITB8_HUMAN			Transcript			.	ENSP00000222573		CCDS5370.1			1	
MACC1	0	LGGM	GRCh37	7	20198729	20198729	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	29	19	.	.	ENST00000400331.5:c.1255C>G	p.Leu419Val	p.L419V	ENST00000400331	NM_182762.3	419	Ctc/Gtc	0	1		UPI00001B2F47	0	NA	ENST00000332878		ENSG00000183742	30215		48	2.585		HGNC	p.L419V		MACC1		SNV							ENST00000332878	protein_coding	getma.org/?cm=var&var=hg19,7,20198729,G,C&fts=all		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1		L/V		C	medium	1369/2994		getma.org/?cm=msa&ty=f&p=MACC1_HUMAN&rb=401&re=552&var=L419V	deleterious(0)					MACC1,missense_variant,p.Leu419Val,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Leu419Val,ENST00000332878,;MACC1,missense_variant,p.Leu419Val,ENST00000589011,;							MODERATE	1255/2559	L419V	MACC1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000328410		CCDS5369.1			1	
RNF216	0	LGGM	GRCh37	7	5800674	5800674	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	37	19	.	.	ENST00000389902.3:c.27G>C	p.Glu9Asp	p.E9D	ENST00000389902		9	gaG/gaC	0	1		UPI000013D69A	0	NA	ENST00000425013		ENSG00000011275	21698		56	1.59		HGNC	p.E9D		RNF216		SNV			1				ENST00000416985	protein_coding	getma.org/?cm=var&var=hg19,7,5800674,C,G&fts=all		hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF13		E/D		G	low	252/5639		getma.org/?cm=msa&ty=f&p=RN216_HUMAN&rb=1&re=111&var=E9D	tolerated_low_confidence(0.09)	C9JIV3_HUMAN				RNF216,missense_variant,p.Glu9Asp,ENST00000425013,NM_207111.3,NM_207116.2;RNF216,missense_variant,p.Glu9Asp,ENST00000389902,;RNF216,missense_variant,p.Glu9Asp,ENST00000416985,;RNF216,downstream_gene_variant,,ENST00000476345,;RNF216,missense_variant,p.Glu9Asp,ENST00000389900,;RNF216,missense_variant,p.Glu9Asp,ENST00000411812,;							MODERATE	27/2601	E9D	RN216_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000404602		CCDS34595.1			1	
AP2A1	0	LGGM	GRCh37	19	50285875	50285875	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	35	20	.	.	ENST00000359032.5:c.367C>T	p.Arg123Cys	p.R123C	ENST00000359032	NM_014203.2	123	Cgc/Tgc	0	1	1	UPI0000167B50	0	getma.org/pdb.php?prot=AP2A1_HUMAN&from=29&to=591&var=R123C	ENST00000359032		ENSG00000196961	561		55	3.1		HGNC	p.R123C	rs764811826	AP2A1		SNV							ENST00000354293	protein_coding	getma.org/?cm=var&var=hg19,19,50285875,C,T&fts=all		hmmpanther:PTHR22780:SF19,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371		R/C		T	medium	367/3286	1.53E-05	getma.org/?cm=msa&ty=f&p=AP2A1_HUMAN&rb=29&re=591&var=R123C	deleterious(0.01)	Q8N9K4_HUMAN			YES	AP2A1,missense_variant,p.Arg123Cys,ENST00000354293,NM_130787.2;AP2A1,missense_variant,p.Arg123Cys,ENST00000359032,NM_014203.2;AP2A1,non_coding_transcript_exon_variant,,ENST00000600199,;AP2A1,intron_variant,,ENST00000597774,;							MODERATE	367/2934	R123C	AP2A1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000351926	8.25E-06	CCDS46148.1			1	
MEGF10	0	LGGM	GRCh37	5	126774155	126774155	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	62	20	.	.	ENST00000274473.6:c.2129C>A	p.Pro710Gln	p.P710Q	ENST00000274473	NM_032446.2	710	cCa/cAa	0	1	1	UPI000006F868	0	getma.org/pdb.php?prot=MEG10_HUMAN&from=657&to=758&var=P710Q	ENST00000274473		ENSG00000145794	29634		82	1.075		HGNC	p.P710Q		MEGF10		SNV			1				ENST00000503335	protein_coding	getma.org/?cm=var&var=hg19,5,126774155,C,A&fts=all		hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75		P/Q		A	low	2396/7594		getma.org/?cm=msa&ty=f&p=MEG10_HUMAN&rb=657&re=758&var=P710Q	tolerated(0.08)				YES	MEGF10,missense_variant,p.Pro710Gln,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Pro710Gln,ENST00000503335,NM_001256545.1;MEGF10,non_coding_transcript_exon_variant,,ENST00000506709,;							MODERATE	2129/3423	P710Q	MEG10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000274473		CCDS4142.1			1	
SLCO6A1	0	LGGM	GRCh37	5	101735337	101735337	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	54	20	.	.	ENST00000506729.1:c.1736C>G	p.Pro579Arg	p.P579R	ENST00000506729		579	cCt/cGt	0	1		UPI000020C392	0	NA	ENST00000379807		ENSG00000205359	23613		74	2.585		HGNC	p.P326R		SLCO6A1		SNV							ENST00000379810	protein_coding	getma.org/?cm=var&var=hg19,5,101735337,G,C&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,TIGRFAM_domain:TIGR00805		P/R		C	medium	1871/2437		getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=105&re=666&var=P579R	deleterious(0)	H0Y8R6_HUMAN,D3DSZ4_HUMAN				SLCO6A1,missense_variant,p.Pro579Arg,ENST00000506729,;SLCO6A1,missense_variant,p.Pro579Arg,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.Pro517Arg,ENST00000389019,;SLCO6A1,missense_variant,p.Pro326Arg,ENST00000379810,;SLCO6A1,missense_variant,p.Pro326Arg,ENST00000513675,;							MODERATE	1736/2160	P579R	SO6A1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000369135		CCDS34206.1			1	
GPR151	0	LGGM	GRCh37	5	145895418	145895418	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	21	.	.	ENST00000311104.2:c.259C>G	p.Leu87Val	p.L87V	ENST00000311104	NM_194251.2	87	Ctc/Gtc	0	1	1	UPI000003BCC7	0	getma.org/pdb.php?prot=GP151_HUMAN&from=53&to=306&var=L87V	ENST00000311104		ENSG00000173250	23624		45	1.175		HGNC	p.L87V		GPR151		SNV							ENST00000311104	protein_coding	getma.org/?cm=var&var=hg19,5,145895418,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/V		C	low	336/3088		getma.org/?cm=msa&ty=f&p=GP151_HUMAN&rb=53&re=306&var=L87V	tolerated(0.43)				YES	GPR151,missense_variant,p.Leu87Val,ENST00000311104,NM_194251.2;TCERG1,downstream_gene_variant,,ENST00000296702,NM_006706.3;TCERG1,downstream_gene_variant,,ENST00000394421,NM_001040006.1;TCERG1,downstream_gene_variant,,ENST00000506524,;TCERG1,downstream_gene_variant,,ENST00000511077,;							MODERATE	259/1260	L87V	GP151_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000308733		CCDS34266.1			1	
MEGF10	0	LGGM	GRCh37	5	126774154	126774154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	60	21	.	.	ENST00000274473.6:c.2128C>A	p.Pro710Thr	p.P710T	ENST00000274473	NM_032446.2	710	Cca/Aca	0	1	1	UPI000006F868	0	getma.org/pdb.php?prot=MEG10_HUMAN&from=657&to=758&var=P710T	ENST00000274473		ENSG00000145794	29634		81	1.565		HGNC	p.P710T		MEGF10		SNV			1				ENST00000503335	protein_coding	getma.org/?cm=var&var=hg19,5,126774154,C,A&fts=all		hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75		P/T		A	low	2395/7594		getma.org/?cm=msa&ty=f&p=MEG10_HUMAN&rb=657&re=758&var=P710T	tolerated(0.09)				YES	MEGF10,missense_variant,p.Pro710Thr,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Pro710Thr,ENST00000503335,NM_001256545.1;MEGF10,non_coding_transcript_exon_variant,,ENST00000506709,;							MODERATE	2128/3423	P710T	MEG10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000274473		CCDS4142.1			1	
CMTR1	0	LGGM	GRCh37	6	37411804	37411804	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	55	21	.	.	ENST00000373451.4:c.163A>G	p.Ser55Gly	p.S55G	ENST00000373451	NM_015050.2	55	Agt/Ggt	0	1	1	UPI00000700C2	0	NA	ENST00000373451		ENSG00000137200	21077		76	1.59		HGNC	p.S55G	COSM3662475	CMTR1		SNV						1	ENST00000455891	protein_coding	getma.org/?cm=var&var=hg19,6,37411804,A,G&fts=all		hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121		S/G		G	low	327/4033		getma.org/?cm=msa&ty=f&p=MTR1_HUMAN&rb=1&re=86&var=S55G	tolerated_low_confidence(0.28)				YES	CMTR1,missense_variant,p.Ser55Gly,ENST00000373451,NM_015050.2;CMTR1,missense_variant,p.Ser55Gly,ENST00000455891,;CMTR1,non_coding_transcript_exon_variant,,ENST00000471097,;					1		MODERATE	163/2508	S55G	CMTR1_HUMAN			Transcript		benign(0.001)	.	ENSP00000362550		CCDS4835.1			1	
KIAA1024	0	LGGM	GRCh37	15	79749518	79749518	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	46	22	.	.	ENST00000305428.3:c.1029T>G	p.Thr343=	p.T343=	ENST00000305428	NM_015206.2	343	acT/acG	0	1	1	UPI00001B2F56	0		ENST00000305428		ENSG00000169330	29172		68			HGNC	p.T343T		KIAA1024		SNV							ENST00000559272	protein_coding			hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2		T		G		1104/6732							YES	KIAA1024,synonymous_variant,p.=,ENST00000305428,NM_015206.2;KIAA1024,synonymous_variant,p.=,ENST00000559272,;							LOW	1029/2751		K1024_HUMAN			Transcript			.	ENSP00000307461		CCDS32306.1			1	
P2RY1	0	LGGM	GRCh37	3	152554195	152554195	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	38	22	.	.	ENST00000305097.3:c.624C>T	p.Asp208=	p.D208=	ENST00000305097	NM_002563.3	208	gaC/gaT	0	1	1	UPI0000001C06	0		ENST00000305097		ENSG00000169860	8539		60			HGNC	p.D208D		P2RY1		SNV							ENST00000305097	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Superfamily_domains:SSF81321		D		T		1460/3106							YES	P2RY1,synonymous_variant,p.=,ENST00000305097,NM_002563.3;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;							LOW	624/1122		P2RY1_HUMAN			Transcript			.	ENSP00000304767		CCDS3169.1			1	
ABCA10	0	LGGM	GRCh37	17	67189250	67189250	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	57	23	.	.	ENST00000269081.4:c.1780+1G>A		p.X594_splice	ENST00000269081	NM_080282.3			0	1	1	UPI000013D7F6	0		ENST00000269081		ENSG00000154263	30		80			HGNC	-		ABCA10		SNV							ENST00000416101	protein_coding							T		-/6362				K7ERP5_HUMAN			YES	ABCA10,splice_donor_variant,,ENST00000269081,NM_080282.3;ABCA10,splice_donor_variant,,ENST00000416101,;ABCA10,downstream_gene_variant,,ENST00000432313,;ABCA10,splice_donor_variant,,ENST00000522406,;ABCA10,splice_donor_variant,,ENST00000518929,;ABCA10,splice_donor_variant,,ENST00000523419,;							HIGH	1780/4632		ABCAA_HUMAN			Transcript			.	ENSP00000269081		CCDS11684.1			1	
CACNA1D	0	LGGM	GRCh37	3	53707133	53707133	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	61	23	.	.	ENST00000288139.4:c.1117-607T>G		*373*	ENST00000288139	NM_000720.3			0	1		UPI000013DEF4	0		ENST00000350061		ENSG00000157388	1391		84			HGNC	p.L73L		CACNA1D		SNV			1				ENST00000481478	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		L		G		1711/7636								CACNA1D,synonymous_variant,p.=,ENST00000350061,NM_001128840.2;CACNA1D,synonymous_variant,p.=,ENST00000422281,NM_001128839.2;CACNA1D,synonymous_variant,p.=,ENST00000481478,;CACNA1D,intron_variant,,ENST00000288139,NM_000720.3;CACNA1D,intron_variant,,ENST00000481085,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000498251,;CACNA1D,intron_variant,,ENST00000464429,;							LOW	1200/6486		CAC1D_HUMAN			Transcript			.	ENSP00000288133		CCDS46848.1			1	
PNPLA8	0	LGGM	GRCh37	7	108155706	108155706	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	19	23	.	.	ENST00000422087.1:c.230A>G	p.His77Arg	p.H77R	ENST00000422087	NM_015723.3	77	cAt/cGt	0	1		UPI0000073D34	0	NA	ENST00000257694		ENSG00000135241	28900		42	1.935		HGNC	p.H77R	rs777629063	PNPLA8		SNV				9.74E-05			ENST00000426128	protein_coding	getma.org/?cm=var&var=hg19,7,108155706,T,C&fts=all		hmmpanther:PTHR24185		H/R		C	medium	525/3490		getma.org/?cm=msa&ty=f&p=PLPL8_HUMAN&rb=1&re=200&var=H77R	deleterious_low_confidence(0.03)	C9JAX4_HUMAN,C9J9W9_HUMAN				PNPLA8,missense_variant,p.His77Arg,ENST00000426128,NM_001256009.1;PNPLA8,missense_variant,p.His77Arg,ENST00000422087,NM_015723.3;PNPLA8,missense_variant,p.His77Arg,ENST00000257694,NM_001256007.1;PNPLA8,missense_variant,p.His77Arg,ENST00000436062,NM_001256008.1;PNPLA8,missense_variant,p.His77Arg,ENST00000388728,;PNPLA8,missense_variant,p.His77Arg,ENST00000427008,;PNPLA8,5_prime_UTR_variant,,ENST00000453144,NM_001256010.1;PNPLA8,5_prime_UTR_variant,,ENST00000453085,NM_001256011.1;PNPLA8,downstream_gene_variant,,ENST00000415498,;PNPLA8,intron_variant,,ENST00000483879,;PNPLA8,intron_variant,,ENST00000476592,;PNPLA8,intron_variant,,ENST00000489738,;RPL7P32,downstream_gene_variant,,ENST00000457119,;							MODERATE	230/2349	H77R	PLPL8_HUMAN			Transcript		benign(0.032)	.	ENSP00000257694	8.24E-06	CCDS34733.1			1	
GOLGA6L2	0	LGGM	GRCh37	15	23689145	23689145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	33	26	.	.	ENST00000567107.1:c.370G>A	p.Ala124Thr	p.A124T	ENST00000567107		124	Gct/Act	0	1	1	UPI00024672CE	0		ENST00000567107		ENSG00000174450	26695		59			HGNC	p.A124T		GOLGA6L2		SNV							ENST00000567107	protein_coding			hmmpanther:PTHR23143:SF11,hmmpanther:PTHR23143		A/T		T		423/3030				H3BMJ4_HUMAN			YES	GOLGA6L2,missense_variant,p.Ala124Thr,ENST00000567107,;GOLGA6L2,missense_variant,p.Ala124Thr,ENST00000312015,;GOLGA6L2,5_prime_UTR_variant,,ENST00000345070,;GOLGA6L2,missense_variant,p.Ala114Thr,ENST00000566571,;							MODERATE	370/2730					Transcript		probably_damaging(0.98)	.	ENSP00000454407					1	
CRLF3	0	LGGM	GRCh37	17	29131069	29131069	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	48	27	.	.	ENST00000324238.6:c.187A>C	p.Lys63Gln	p.K63Q	ENST00000324238	NM_015986.3	63	Aag/Cag	0	1	1	UPI0000231BEA	0	NA	ENST00000324238		ENSG00000176390	17177		75	0.49		HGNC	p.K63Q		CRLF3		SNV							ENST00000324238	protein_coding	getma.org/?cm=var&var=hg19,17,29131069,T,G&fts=all		hmmpanther:PTHR15828		K/Q		G	neutral	312/2957		getma.org/?cm=msa&ty=f&p=CRLF3_HUMAN&rb=1&re=440&var=K63Q	tolerated(0.37)	B4DJU5_HUMAN			YES	CRLF3,missense_variant,p.Lys63Gln,ENST00000324238,NM_015986.3;CRLF3,intron_variant,,ENST00000544695,;CRLF3,non_coding_transcript_exon_variant,,ENST00000583805,;CRLF3,upstream_gene_variant,,ENST00000577725,;CRLF3,intron_variant,,ENST00000578692,;							MODERATE	187/1329	K63Q	CRLF3_HUMAN			Transcript		benign(0.147)	.	ENSP00000318804		CCDS32607.1			1	
EIF4G3	0	LGGM	GRCh37	1	21177793	21177793	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	69	27	.	.	ENST00000602326.1:c.3580A>T	p.Arg1194Trp	p.R1194W	ENST00000602326	NM_001198802.1	1194	Agg/Tgg	0	1		UPI0000070825	0	NA	ENST00000264211		ENSG00000075151	3298		96	0.345		HGNC	p.R908W		EIF4G3		SNV							ENST00000374935	protein_coding	getma.org/?cm=var&var=hg19,1,21177793,T,A&fts=all		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		R/W		A	neutral	3757/5802		getma.org/?cm=msa&ty=f&p=IF4G3_HUMAN&rb=1184&re=1221&var=R1188W	deleterious(0)	F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,missense_variant,p.Arg1194Trp,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Arg1188Trp,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Arg1188Trp,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Arg1194Trp,ENST00000374937,;EIF4G3,missense_variant,p.Arg908Trp,ENST00000374935,;EIF4G3,missense_variant,p.Arg792Trp,ENST00000536266,;EIF4G3,missense_variant,p.Arg678Trp,ENST00000537738,;EIF4G3,upstream_gene_variant,,ENST00000435383,;							MODERATE	3562/4758	R1188W	IF4G3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000264211		CCDS214.1			1	
STRIP2	0	LGGM	GRCh37	7	129103934	129103934	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060617	H060617N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	26	27	.	.	ENST00000249344.2:c.1601A>C	p.Lys534Thr	p.K534T	ENST00000249344	NM_020704.2	534	aAg/aCg	0	1	1	UPI00001C1E68	0	NA	ENST00000249344		ENSG00000128578	22209		53	2.535		HGNC	p.K534T		STRIP2		SNV							ENST00000435494	protein_coding	getma.org/?cm=var&var=hg19,7,129103934,A,C&fts=all		Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		K/T		C	medium	1641/5115		getma.org/?cm=msa&ty=f&p=FA40B_HUMAN&rb=412&re=813&var=K534T	deleterious(0)	A4D1K4_HUMAN			YES	STRIP2,missense_variant,p.Lys534Thr,ENST00000249344,NM_020704.2;STRIP2,missense_variant,p.Lys534Thr,ENST00000435494,NM_001134336.1;STRIP2,downstream_gene_variant,,ENST00000465033,;							MODERATE	1601/2505	K534T	STRP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000249344		CCDS34752.1			1	
ACTR1B	0	LGGM	GRCh37	2	98274469	98274469	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	53	27	.	.	ENST00000289228.5:c.862A>G	p.Met288Val	p.M288V	ENST00000289228	NM_005735.3	288	Atg/Gtg	0	1	1	UPI0000049C38	0	getma.org/pdb.php?prot=ACTY_HUMAN&from=7&to=376&var=M288V	ENST00000289228		ENSG00000115073	168		80	0.575		HGNC	p.M288V	COSM4096458	ACTR1B		SNV						1	ENST00000289228	protein_coding	getma.org/?cm=var&var=hg19,2,98274469,T,C&fts=all		Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937:SF195,hmmpanther:PTHR11937		M/V		C	neutral	1079/2238		getma.org/?cm=msa&ty=f&p=ACTY_HUMAN&rb=7&re=376&var=M288V	tolerated(1)				YES	ACTR1B,missense_variant,p.Met288Val,ENST00000289228,NM_005735.3;ACTR1B,non_coding_transcript_exon_variant,,ENST00000451664,;ACTR1B,downstream_gene_variant,,ENST00000460427,;					1		MODERATE	862/1131	M288V	ACTY_HUMAN			Transcript		benign(0.02)	.	ENSP00000289228		CCDS2033.1			1	
CLU	0	LGGM	GRCh37	8	27462447	27462447	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	68	28	.	.	ENST00000316403.10:c.823A>C	p.Ile275Leu	p.I275L	ENST00000316403		275	Ata/Cta	0	1	1	UPI0000127BA6	0	NA	ENST00000316403		ENSG00000120885	2095		96	0		HGNC	p.I286L		CLU		SNV							ENST00000546343	protein_coding	getma.org/?cm=var&var=hg19,8,27462447,T,G&fts=all		PIRSF_domain:PIRSF002368,SMART_domains:SM00035,Pfam_domain:PF01093,hmmpanther:PTHR10970:SF1,hmmpanther:PTHR10970		I/L		G	neutral	1229/3080		getma.org/?cm=msa&ty=f&p=CLUS_HUMAN&rb=29&re=449&var=I275L	tolerated(0.54)	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN			YES	CLU,missense_variant,p.Ile275Leu,ENST00000316403,;CLU,missense_variant,p.Ile327Leu,ENST00000560366,NM_001831.3;CLU,missense_variant,p.Ile286Leu,ENST00000546343,;CLU,missense_variant,p.Ile275Leu,ENST00000523500,;CLU,missense_variant,p.Ile275Leu,ENST00000405140,;CLU,missense_variant,p.Ile286Leu,ENST00000560566,;CLU,missense_variant,p.Ile241Leu,ENST00000523589,;CLU,missense_variant,p.Ile138Leu,ENST00000522098,;CLU,downstream_gene_variant,,ENST00000520796,;CLU,downstream_gene_variant,,ENST00000522413,;CLU,downstream_gene_variant,,ENST00000519742,;CLU,downstream_gene_variant,,ENST00000520491,;CLU,upstream_gene_variant,,ENST00000521770,;CLU,downstream_gene_variant,,ENST00000523396,;CLU,downstream_gene_variant,,ENST00000519472,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;CLU,non_coding_transcript_exon_variant,,ENST00000522502,;CLU,downstream_gene_variant,,ENST00000518050,;							MODERATE	823/1350	I275L	CLUS_HUMAN			Transcript		benign(0.006)	.	ENSP00000315130		CCDS47832.1			1	
LYSET	0	LGGM	GRCh37	14	93652820	93652820	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	40	29	.	.	ENST00000415050.2:c.314C>T	p.Pro105Leu	p.P105L	ENST00000415050	NM_001098621.1	105	cCt/cTt	0	1	1	UPI00001C1F72	0	NA	ENST00000415050		ENSG00000153485	20218		69	0.895		HGNC	p.P67L		TMEM251		SNV							ENST00000557574	protein_coding	getma.org/?cm=var&var=hg19,14,93652820,C,T&fts=all		Pfam_domain:PF15190,hmmpanther:PTHR31925,hmmpanther:PTHR31925:SF1,Transmembrane_helices:TMhelix		P/L		T	low	689/1303		getma.org/?cm=msa&ty=f&p=CN109_HUMAN&rb=1&re=161&var=P99L	tolerated(0.18)				YES	TMEM251,missense_variant,p.Pro105Leu,ENST00000415050,NM_001098621.1;TMEM251,missense_variant,p.Pro67Leu,ENST00000283534,NM_015676.1;RP11-371E8.4,missense_variant,p.Pro67Leu,ENST00000557574,;MOAP1,upstream_gene_variant,,ENST00000556883,;MOAP1,upstream_gene_variant,,ENST00000298894,NM_022151.4;RP11-371E8.4,intron_variant,,ENST00000557048,;RP11-371E8.4,missense_variant,p.Pro67Leu,ENST00000554824,;							MODERATE	314/510	P99L	TM251_HUMAN			Transcript		benign(0.319)	.	ENSP00000388431		CCDS45158.1			1	
KIR2DL1	0	LGGM	GRCh37	19	55294967	55294967	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	98	30	.	.	ENST00000336077.6:c.847G>A	p.Gly283Arg	p.G283R	ENST00000336077	NM_014218.2	283	Gga/Aga	0	1	1	UPI00001195F7	0	NA	ENST00000336077		ENSG00000125498	6329		128	2.99		HGNC	p.G283R	COSM1001211	KIR2DL1		SNV						1	ENST00000434419	protein_coding	getma.org/?cm=var&var=hg19,19,55294967,G,A&fts=all		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19		G/R		A	medium	887/1596		getma.org/?cm=msa&ty=f&p=KI2S1_HUMAN&rb=201&re=304&var=G284R	tolerated(0.58)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN			YES	KIR2DL1,missense_variant,p.Gly283Arg,ENST00000336077,NM_014218.2;KIR2DL3,missense_variant,p.Gly283Arg,ENST00000434419,;KIR2DL1,missense_variant,p.Gly309Arg,ENST00000291633,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;CTB-61M7.1,intron_variant,,ENST00000400864,;KIR3DP1,upstream_gene_variant,,ENST00000580853,;					1		MODERATE	847/1047	G284R	KI2L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336769		CCDS12904.1			1	
SATB1	0	LGGM	GRCh37	3	18458505	18458505	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	59	32	.	.	ENST00000417717.2:c.277G>T	p.Glu93Ter	p.E93*	ENST00000417717	NM_001195470.1	93	Gag/Tag	0	1		UPI0000000C35	0	NA	ENST00000338745		ENSG00000182568	10541		91	0		HGNC	p.E93X		SATB1		SNV							ENST00000440737	protein_coding	getma.org/?cm=var&var=hg19,3,18458505,C,A&fts=all		hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14		E/*		A	NA	2012/7810		NA		C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN				SATB1,stop_gained,p.Glu93Ter,ENST00000338745,NM_002971.4;SATB1,stop_gained,p.Glu93Ter,ENST00000417717,NM_001195470.1;SATB1,stop_gained,p.Glu93Ter,ENST00000454909,NM_001131010.2;SATB1,stop_gained,p.Glu93Ter,ENST00000440737,;SATB1,stop_gained,p.Glu93Ter,ENST00000452260,;SATB1,stop_gained,p.Glu93Ter,ENST00000415069,;SATB1,stop_gained,p.Glu93Ter,ENST00000414509,;SATB1,stop_gained,p.Glu93Ter,ENST00000457005,;SATB1,downstream_gene_variant,,ENST00000493952,;SATB1,downstream_gene_variant,,ENST00000444341,;SATB1,downstream_gene_variant,,ENST00000450898,;SATB1,non_coding_transcript_exon_variant,,ENST00000475083,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000491519,;SATB1,downstream_gene_variant,,ENST00000487699,;SATB1,upstream_gene_variant,,ENST00000482788,;							HIGH	277/2292	E93*	SATB1_HUMAN			Transcript			.	ENSP00000341024		CCDS2631.1			1	
TAF1L	0	LGGM	GRCh37	9	32632961	32632961	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	61	32	.	.	ENST00000242310.4:c.2617C>T	p.Arg873Cys	p.R873C	ENST00000242310	NM_153809.2	873	Cgc/Tgc	0	1	1	UPI000007408A	0	NA	ENST00000242310		ENSG00000122728	18056		93	3.42		HGNC	p.R873C	COSM1569293	TAF1L		SNV						1	ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32632961,G,A&fts=all		hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047		R/C		A	medium	2707/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=584&re=1047&var=R873C	deleterious(0)				YES	TAF1L,missense_variant,p.Arg873Cys,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;					1		MODERATE	2617/5481	R873C	TAF1L_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000418379		CCDS35003.1			1	
EIF4G3	0	LGGM	GRCh37	1	21268419	21268419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	65	34	.	.	ENST00000602326.1:c.1078A>G	p.Asn360Asp	p.N360D	ENST00000602326	NM_001198802.1	360	Aac/Gac	0	1		UPI0000070825	0	NA	ENST00000264211		ENSG00000075151	3298		99	0.345		HGNC	p.N480D		EIF4G3		SNV							ENST00000356916	protein_coding	getma.org/?cm=var&var=hg19,1,21268419,T,C&fts=all		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		N/D		C	neutral	1255/5802		getma.org/?cm=msa&ty=f&p=IF4G3_HUMAN&rb=201&re=400&var=N354D	tolerated_low_confidence(0.48)	F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,missense_variant,p.Asn360Asp,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Asn354Asp,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Asn354Asp,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Asn360Asp,ENST00000374937,;EIF4G3,missense_variant,p.Asn365Asp,ENST00000356916,NM_001198803.1;EIF4G3,missense_variant,p.Asn354Asp,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,;							MODERATE	1060/4758	N354D	IF4G3_HUMAN			Transcript		benign(0.01)	.	ENSP00000264211		CCDS214.1			1	
PKD2L2	0	LGGM	GRCh37	5	137230127	137230127	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060617	H060617N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	24	36	.	.	ENST00000290431.5:c.353G>A	p.Arg118His	p.R118H	ENST00000290431	NM_014386.3	118	cGc/cAc	0	1		UPI000013C93B	0	NA	ENST00000508883		ENSG00000078795	9012		60	1.5		HGNC	p.R118H	rs772979367,COSM1061188,COSM3356040	PKD2L2	6.06E-05	SNV						0,1,1	ENST00000508883	protein_coding	getma.org/?cm=var&var=hg19,5,137230127,G,A&fts=all		Pfam_domain:PF08016,Prints_domain:PR01433,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF47		R/H		A	low	379/2282		getma.org/?cm=msa&ty=f&p=PK2L2_HUMAN&rb=75&re=497&var=R118H	tolerated(0.45)	D6RF71_HUMAN,D6RBX8_HUMAN				PKD2L2,missense_variant,p.Arg118His,ENST00000508638,NM_001258449.1;PKD2L2,missense_variant,p.Arg118His,ENST00000508883,;PKD2L2,missense_variant,p.Arg118His,ENST00000290431,NM_014386.3;PKD2L2,missense_variant,p.Arg118His,ENST00000502810,NM_001258448.1;PKD2L2,missense_variant,p.Arg28His,ENST00000503015,;PKD2L2,missense_variant,p.Arg84His,ENST00000350250,;PKD2L2,missense_variant,p.Arg28His,ENST00000511176,;PKD2L2,3_prime_UTR_variant,,ENST00000414094,;					0,1,1		MODERATE	353/1875	R118H	PK2L2_HUMAN			Transcript		benign(0.032)	.	ENSP00000424725	8.28E-06				1	
MUC12	0	LGGM	GRCh37	7	100648603	100648603	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	149	38	.	.	ENST00000536621.1:c.14759T>C	p.Leu4920Ser	p.L4920S	ENST00000536621	NM_001164462.1	4920	tTa/tCa	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		187	0		HGNC	p.L4920S		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100648603,T,C&fts=all				L/S		C	neutral	15188/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=L5063S						MUC12,missense_variant,p.Leu5063Ser,ENST00000379442,;MUC12,missense_variant,p.Leu4920Ser,ENST00000536621,NM_001164462.1;							MODERATE	15188/16437	L5063S	MUC12_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000368755					1	
FNIP2	0	LGGM	GRCh37	4	159756622	159756622	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	90	40	.	.	ENST00000264433.6:c.721C>G	p.Arg241Gly	p.R241G	ENST00000264433	NM_020840.1	241	Cga/Gga	0	1	1	UPI00001C1E0A	0	NA	ENST00000264433		ENSG00000052795	29280		130	1.995		HGNC	p.R264G		FNIP2		SNV							ENST00000512986	protein_coding	getma.org/?cm=var&var=hg19,4,159756622,C,G&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11		R/G		G	medium	796/6925		getma.org/?cm=msa&ty=f&p=FNIP2_HUMAN&rb=201&re=400&var=R241G	deleterious(0.01)				YES	FNIP2,missense_variant,p.Arg241Gly,ENST00000264433,NM_020840.1;FNIP2,missense_variant,p.Arg264Gly,ENST00000379346,;FNIP2,missense_variant,p.Arg264Gly,ENST00000512986,;FNIP2,missense_variant,p.Arg106Gly,ENST00000504715,;FNIP2,non_coding_transcript_exon_variant,,ENST00000504704,;							MODERATE	721/3345	R241G	FNIP2_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000264433		CCDS47155.1			1	
HECW2	0	LGGM	GRCh37	2	197085542	197085542	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	73	42	.	.	ENST00000260983.3:c.4270A>G	p.Ser1424Gly	p.S1424G	ENST00000260983	NM_020760.1	1424	Agc/Ggc	0	1	1	UPI00001A75E8	0	getma.org/pdb.php?prot=HECW2_HUMAN&from=1267&to=1572&var=S1424G	ENST00000260983		ENSG00000138411	29853		115	1.98		HGNC	p.S1424G		HECW2		SNV							ENST00000260983	protein_coding	getma.org/?cm=var&var=hg19,2,197085542,T,C&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204		S/G		C	medium	4453/11809		getma.org/?cm=msa&ty=f&p=HECW2_HUMAN&rb=1267&re=1572&var=S1424G	tolerated(0.05)	C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,missense_variant,p.Ser1424Gly,ENST00000260983,NM_020760.1;HECW2,missense_variant,p.Ser1068Gly,ENST00000409111,;							MODERATE	4270/4719	S1424G	HECW2_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000260983		CCDS33354.1			1	
PLCD4	0	LGGM	GRCh37	2	219499297	219499297	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	106	47	.	.	ENST00000450993.2:c.1840T>A	p.Ser614Thr	p.S614T	ENST00000450993	NM_032726.3	614	Tct/Act	0	1		UPI0000044279	0	NA	ENST00000417849		ENSG00000115556	9062		153	-0.03		HGNC	p.S614T		PLCD4		SNV							ENST00000417849	protein_coding	getma.org/?cm=var&var=hg19,2,219499297,T,A&fts=all		Gene3D:3.20.20.190,PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF31		S/T		A	neutral	2025/2738		getma.org/?cm=msa&ty=f&p=PLCD4_HUMAN&rb=614&re=719&var=S614T	tolerated(1)	C9JAE4_HUMAN				PLCD4,missense_variant,p.Ser614Thr,ENST00000450993,NM_032726.3;PLCD4,missense_variant,p.Ser646Thr,ENST00000432688,;PLCD4,missense_variant,p.Ser614Thr,ENST00000417849,;ZNF142,downstream_gene_variant,,ENST00000411696,;ZNF142,downstream_gene_variant,,ENST00000449707,NM_001105537.2;PLCD4,upstream_gene_variant,,ENST00000457773,;RP11-548H3.1,upstream_gene_variant,,ENST00000607946,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;PLCD4,non_coding_transcript_exon_variant,,ENST00000484718,;ZNF142,downstream_gene_variant,,ENST00000450765,;ZNF142,downstream_gene_variant,,ENST00000433921,;PLCD4,downstream_gene_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000497482,;PLCD4,downstream_gene_variant,,ENST00000458239,;							MODERATE	1840/2289	S614T	PLCD4_HUMAN			Transcript		possibly_damaging(0.695)	.	ENSP00000396942		CCDS46516.1			1	
DDR2	0	LGGM	GRCh37	1	162745623	162745623	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060617	H060617N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	52	50	.	.	ENST00000367921.3:c.2038C>T	p.Arg680Cys	p.R680C	ENST00000367921	NM_006182.2	680	Cgc/Tgc	0	1		UPI000013E1B4	0	getma.org/pdb.php?prot=DDR2_HUMAN&from=563&to=849&var=R680C	ENST00000367921		ENSG00000162733	2731		102	1.34		HGNC	p.R680C	rs572243397,COSM1583678,COSM898794	DDR2	0.000121	SNV			1	9.64E-05		0,1,1	ENST00000367921	protein_coding	getma.org/?cm=var&var=hg19,1,162745623,C,T&fts=all	G:0	Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF297,SMART_domains:SM00219,Superfamily_domains:SSF56112		R/C		T	low	2391/3096	1.50E-05	getma.org/?cm=msa&ty=f&p=DDR2_HUMAN&rb=563&re=849&var=R680C	deleterious(0.01)	Q5T245_HUMAN,Q5T244_HUMAN	G:0	G:0.001		DDR2,missense_variant,p.Arg680Cys,ENST00000367922,NM_001014796.1;DDR2,missense_variant,p.Arg680Cys,ENST00000367921,NM_006182.2;DDR2,downstream_gene_variant,,ENST00000433757,;RN7SL861P,upstream_gene_variant,,ENST00000473793,;	0.000116	G:0.0002			0,1,1		MODERATE	2038/2568	R680C	DDR2_HUMAN		G:0	Transcript		benign(0.019)	.	ENSP00000356898	4.12E-05	CCDS1241.1		G:0	1	
DST	0	LGGM	GRCh37	6	56394416	56394416	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060617	H060617N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060617N.bam, H060617T.bam	Illumina HiSeq	124	51	.	.	ENST00000244364.6:c.9556A>C	p.Ser3186Arg	p.S3186R	ENST00000244364	NM_015548.4	3186	Agt/Cgt	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		175	2.125		HGNC	p.S3186R		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56394416,T,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966		S/R		G	medium	9764/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=5502&re=5607&var=S5598R		Q86T18_HUMAN			YES	DST,missense_variant,p.Ser5778Arg,ENST00000370754,;DST,missense_variant,p.Ser5600Arg,ENST00000370769,;DST,missense_variant,p.Ser5274Arg,ENST00000446842,;DST,missense_variant,p.Ser3512Arg,ENST00000421834,;DST,missense_variant,p.Ser3186Arg,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,non_coding_transcript_exon_variant,,ENST00000340834,;							MODERATE	9556/15516	S5598R	DYST_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000244364		CCDS47443.1			1	
HUS1B	0	LGGM	GRCh37	6	656545	656545	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	12	2	.	.	ENST00000380907.2:c.400G>C	p.Val134Leu	p.V134L	ENST00000380907	NM_148959.3	134	Gtg/Ctg	0	1	1	UPI000019C420	0	getma.org/pdb.php?prot=HUS1B_HUMAN&from=1&to=278&var=V134L	ENST00000380907		ENSG00000188996	16485		14	2.085		HGNC	p.V134L		HUS1B		SNV							ENST00000380907	protein_coding	getma.org/?cm=var&var=hg19,6,656545,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12900,hmmpanther:PTHR12900:SF1,Pfam_domain:PF04005,PIRSF_domain:PIRSF011312		V/L		G	medium	419/1025		getma.org/?cm=msa&ty=f&p=HUS1B_HUMAN&rb=1&re=278&var=V134L	tolerated(0.06)				YES	HUS1B,missense_variant,p.Val134Leu,ENST00000380907,NM_148959.3;EXOC2,intron_variant,,ENST00000230449,NM_018303.5;EXOC2,intron_variant,,ENST00000448181,;EXOC2,intron_variant,,ENST00000443083,;							MODERATE	400/837	V134L	HUS1B_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000370293		CCDS4470.1			1	
ZNF324	0	LGGM	GRCh37	19	58982637	58982637	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	11	2	.	.	ENST00000536459.2:c.778A>G	p.Arg260Gly	p.R260G	ENST00000536459		260	Agg/Ggg	0	1		UPI000013C359	0	getma.org/pdb.php?prot=Z324A_HUMAN&from=248&to=268&var=R260G	ENST00000196482		ENSG00000083812	14096		13	0.595		HGNC	p.R260G		ZNF324		SNV							ENST00000536459	protein_coding	getma.org/?cm=var&var=hg19,19,58982637,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/G		G	neutral	872/3000		getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=228&re=288&var=R260G	tolerated(0.13)	F5H1K2_HUMAN				ZNF324,missense_variant,p.Arg260Gly,ENST00000536459,;ZNF324,missense_variant,p.Arg260Gly,ENST00000196482,NM_014347.2;ZNF324,missense_variant,p.Arg37Gly,ENST00000535298,;ZNF324,missense_variant,p.Arg119Gly,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.2;ZNF446,upstream_gene_variant,,ENST00000600013,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000594468,;							MODERATE	778/1662	R260G	Z324A_HUMAN			Transcript		benign(0.038)	.	ENSP00000196482		CCDS12981.1			1	
POLA1	0	LGGM	GRCh37	X	24751921	24751921	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	22	2	.	.	ENST00000379059.3:c.1803C>G	p.Val601=	p.V601=	ENST00000379059	NM_016937.3	601	gtC/gtG	0	1	1	UPI000014D383	0		ENST00000379059		ENSG00000101868	9173		24			HGNC	p.V601V	COSM756455	POLA1		SNV						1	ENST00000379059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Gene3D:3.30.420.10,Pfam_domain:PF03104,TIGRFAM_domain:TIGR00592,SMART_domains:SM00486,Superfamily_domains:SSF53098		V		G		1818/5440							YES	POLA1,synonymous_variant,p.=,ENST00000379068,;POLA1,synonymous_variant,p.=,ENST00000379059,NM_016937.3;POLA1,non_coding_transcript_exon_variant,,ENST00000493342,;					1		LOW	1803/4389		DPOLA_HUMAN			Transcript			.	ENSP00000368349		CCDS14214.1			1	
GZMA	0	LGGM	GRCh37	5	54403621	54403621	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	36	3	.	.	ENST00000274306.6:c.216-1G>T		p.X72_splice	ENST00000274306	NM_006144.3			0	1	1	UPI000013D9FC	0		ENST00000274306		ENSG00000145649	4708		39			HGNC	-		GZMA		SNV							ENST00000274306	protein_coding							T		-/894							YES	GZMA,splice_acceptor_variant,,ENST00000274306,NM_006144.3;							HIGH	216/789		GRAA_HUMAN			Transcript			.	ENSP00000274306		CCDS3965.1			1	
SMAD2	0	LGGM	GRCh37	18	45372115	45372115	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	25	3	.	.	ENST00000262160.6:c.1054G>T	p.Asp352Tyr	p.D352Y	ENST00000262160	NM_005901.5	352	Gat/Tat	0	1		UPI0000032EE7	0	getma.org/pdb.php?prot=SMAD2_HUMAN&from=268&to=445&var=D352Y	ENST00000262160		ENSG00000175387	6768		28	3.35		HGNC	p.D322Y		SMAD2		SNV							ENST00000356825	protein_coding	getma.org/?cm=var&var=hg19,18,45372115,C,A&fts=all		PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF25,Gene3D:2.60.200.10,Pfam_domain:PF03166,SMART_domains:SM00524,Superfamily_domains:SSF49879		D/Y		A	medium	1306/11932		getma.org/?cm=msa&ty=f&p=SMAD2_HUMAN&rb=268&re=445&var=D352Y	deleterious(0)	Q53XR6_HUMAN,K7ESI8_HUMAN,K7ERC7_HUMAN,K7EL92_HUMAN,K7EJX0_HUMAN				SMAD2,missense_variant,p.Asp352Tyr,ENST00000402690,NM_001003652.3;SMAD2,missense_variant,p.Asp352Tyr,ENST00000262160,NM_005901.5;SMAD2,missense_variant,p.Asp322Tyr,ENST00000356825,NM_001135937.2;SMAD2,missense_variant,p.Asp322Tyr,ENST00000586040,;SMAD2,missense_variant,p.Asp322Tyr,ENST00000591214,;							MODERATE	1054/1404	D352Y	SMAD2_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000262160		CCDS11934.1			1	
PCLO	0	LGGM	GRCh37	7	82538211	82538211	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	47	3	.	.	ENST00000333891.9:c.13419C>A	p.Leu4473=	p.L4473=	ENST00000333891	NM_033026.5	4473	ctC/ctA	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		50			HGNC	p.L4473L		PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		L		T		13757/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;							LOW	13419/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
RGS18	0	LGGM	GRCh37	1	192128419	192128419	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	28	3	.	.	ENST00000367460.3:c.189C>A	p.Ser63=	p.S63=	ENST00000367460	NM_130782.2	63	tcC/tcA	0	1	1	UPI0000044571	0		ENST00000367460		ENSG00000150681	14261		31			HGNC	p.S63S		RGS18		SNV							ENST00000367460	protein_coding			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF153		S		A		370/2150							YES	RGS18,synonymous_variant,p.=,ENST00000367460,NM_130782.2;RGS18,non_coding_transcript_exon_variant,,ENST00000481707,;RGS18,non_coding_transcript_exon_variant,,ENST00000492967,;RGS18,non_coding_transcript_exon_variant,,ENST00000491030,;							LOW	189/708		RGS18_HUMAN			Transcript			.	ENSP00000356430		CCDS1374.1			1	
MAGED2	0	LGGM	GRCh37	X	54836548	54836548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	8	3	.	.	ENST00000375068.1:c.439C>A	p.Gln147Lys	p.Q147K	ENST00000375068		147	Cag/Aag	0	1		UPI000000123B	0	NA	ENST00000218439		ENSG00000102316	16353		11	0.805		HGNC	p.Q147K		MAGED2		SNV							ENST00000375068	protein_coding	getma.org/?cm=var&var=hg19,X,54836548,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11736:SF11,hmmpanther:PTHR11736		Q/K		A	low	538/1932		getma.org/?cm=msa&ty=f&p=MAGD2_HUMAN&rb=1&re=200&var=Q147K	deleterious_low_confidence(0.02)					MAGED2,missense_variant,p.Gln147Lys,ENST00000375068,;MAGED2,missense_variant,p.Gln129Lys,ENST00000347546,NM_177433.1;MAGED2,missense_variant,p.Gln147Lys,ENST00000375058,NM_014599.4;MAGED2,missense_variant,p.Gln147Lys,ENST00000396224,NM_201222.1;MAGED2,missense_variant,p.Gln147Lys,ENST00000218439,;MAGED2,missense_variant,p.Gln147Lys,ENST00000375053,;MAGED2,missense_variant,p.Gln109Lys,ENST00000375060,;MAGED2,missense_variant,p.Gln109Lys,ENST00000375062,;SNORA11,upstream_gene_variant,,ENST00000408789,NR_002953.1;MAGED2,splice_region_variant,,ENST00000463787,;MAGED2,non_coding_transcript_exon_variant,,ENST00000497484,;MAGED2,non_coding_transcript_exon_variant,,ENST00000485483,;MAGED2,upstream_gene_variant,,ENST00000487463,;MAGED2,upstream_gene_variant,,ENST00000487482,;							MODERATE	439/1821	Q147K	MAGD2_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000218439		CCDS14362.1			1	
UBE2C	0	LGGM	GRCh37	20	44444314	44444314	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	35	3	.	.	ENST00000356455.4:c.351C>A	p.Ile117=	p.I117=	ENST00000356455	NM_007019.2	117	atC/atA	0	1	1	UPI0000000C85	0		ENST00000356455		ENSG00000175063	15937		38			HGNC	p.I78I		UBE2C		SNV							ENST00000405520	protein_coding			PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF44,hmmpanther:PTHR24067,PROSITE_patterns:PS00183,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495		I		A		471/850				Q5TZN3_HUMAN			YES	UBE2C,synonymous_variant,p.=,ENST00000405520,NM_181802.1;UBE2C,synonymous_variant,p.=,ENST00000372568,NM_181801.2;UBE2C,synonymous_variant,p.=,ENST00000356455,NM_007019.2;UBE2C,synonymous_variant,p.=,ENST00000352551,NM_181800.1;UBE2C,intron_variant,,ENST00000335046,NM_181799.1;UBE2C,intron_variant,,ENST00000243893,NM_181803.1;DNTTIP1,downstream_gene_variant,,ENST00000372622,NM_052951.2;DNTTIP1,downstream_gene_variant,,ENST00000456939,;DNTTIP1,downstream_gene_variant,,ENST00000435014,;UBE2C,non_coding_transcript_exon_variant,,ENST00000496085,;							LOW	351/540		UBE2C_HUMAN			Transcript			.	ENSP00000348838		CCDS13370.1			1	
CENPW	0	LGGM	GRCh37	6	126667381	126667381	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	46	3	.	.	ENST00000368328.4:c.157C>A	p.Arg53=	p.R53=	ENST00000368328		53	Cga/Aga	0	1	1	UPI000013FCDF	0		ENST00000368328		ENSG00000203760	21488		49			HGNC	p.R68R		CENPW		SNV							ENST00000368325	protein_coding			Gene3D:1.10.20.10,Pfam_domain:PF15510,Superfamily_domains:SSF47113		R		A		257/750							YES	CENPW,synonymous_variant,p.=,ENST00000368328,;CENPW,synonymous_variant,p.=,ENST00000368325,NM_001012507.2,NM_001286524.1;CENPW,intron_variant,,ENST00000368326,;							LOW	157/267		CENPW_HUMAN			Transcript			.	ENSP00000357311		CCDS34529.1			1	
DCAF6	0	LGGM	GRCh37	1	167935918	167935918	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	45	3	.	.	ENST00000367840.3:c.211G>T	p.Asp71Tyr	p.D71Y	ENST00000367840	NM_001198956.1	71	Gat/Tat	0	1		UPI000004E54B	0	NA	ENST00000312263		ENSG00000143164	30002		48	2.78		HGNC	p.D71Y		DCAF6		SNV							ENST00000470721	protein_coding	getma.org/?cm=var&var=hg19,1,167935918,G,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/Y		T	medium	415/3186		getma.org/?cm=msa&ty=f&p=DCAF6_HUMAN&rb=41&re=77&var=D71Y	deleterious(0)					DCAF6,missense_variant,p.Asp71Tyr,ENST00000367840,NM_001198956.1;DCAF6,missense_variant,p.Asp71Tyr,ENST00000367843,NM_018442.3;DCAF6,missense_variant,p.Asp71Tyr,ENST00000312263,NM_001017977.2;DCAF6,intron_variant,,ENST00000432587,NM_001198957.1;DCAF6,non_coding_transcript_exon_variant,,ENST00000470919,;DCAF6,non_coding_transcript_exon_variant,,ENST00000455334,;DCAF6,non_coding_transcript_exon_variant,,ENST00000450548,;DCAF6,upstream_gene_variant,,ENST00000491067,;DCAF6,missense_variant,p.Asp71Tyr,ENST00000470721,;							MODERATE	211/2583	D71Y	DCAF6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311949		CCDS30933.1			1	
LY75	0	LGGM	GRCh37	2	160661701	160661701	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	18	3	.	.	ENST00000504764.1:c.4990+1783G>T		*1664*	ENST00000504764	NM_001198759.1			0	1		UPI00001AE885	0	NA	ENST00000263636		ENSG00000054219	6729		21	1.1		HGNC	p.A1675S		LY75		SNV							ENST00000263636	protein_coding	getma.org/?cm=var&var=hg19,2,160661701,C,A&fts=all		hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,Transmembrane_helices:TMhelix		A/S		A	low	5051/6886		getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=1662&re=1722&var=A1675S	tolerated(0.24)					LY75,missense_variant,p.Ala1675Ser,ENST00000263636,NM_002349.3;LY75-CD302,intron_variant,,ENST00000504764,NM_001198759.1;LY75,intron_variant,,ENST00000554112,;LY75-CD302,intron_variant,,ENST00000505052,NM_001198760.1;LY75,intron_variant,,ENST00000553424,;							MODERATE	5023/5169	A1675S	LY75_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000263636		CCDS2211.1			1	
ART3	0	LGGM	GRCh37	4	77033665	77033665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	3	.	.	ENST00000355810.4:c.1163C>A	p.Ala388Asp	p.A388D	ENST00000355810	NM_001130016.2	388	gCt/gAt	0	1	1	UPI000012FD7B	0	NA	ENST00000355810		ENSG00000156219	725		22	0.46		HGNC	p.A366D		ART3		SNV							ENST00000341029	protein_coding	getma.org/?cm=var&var=hg19,4,77033665,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10339:SF4,hmmpanther:PTHR10339		A/D		A	neutral	1282/1561		getma.org/?cm=msa&ty=f&p=NAR3_HUMAN&rb=358&re=389&var=A388D	deleterious_low_confidence(0.04)	Q5J1Q0_HUMAN,Q5J1P8_HUMAN,Q5J1K8_HUMAN,Q5J1K7_HUMAN,E9PGR5_HUMAN,E7EX61_HUMAN,E7ESB3_HUMAN,E7ER42_HUMAN			YES	ART3,missense_variant,p.Ala388Asp,ENST00000355810,NM_001130016.2;ART3,missense_variant,p.Ala377Asp,ENST00000349321,NM_001179.5;ART3,missense_variant,p.Ala366Asp,ENST00000341029,NM_001130017.2;NUP54,downstream_gene_variant,,ENST00000264883,NM_001278603.1,NM_017426.3;NUP54,downstream_gene_variant,,ENST00000342467,;NUP54,downstream_gene_variant,,ENST00000514987,;NUP54,downstream_gene_variant,,ENST00000458189,;ART3,downstream_gene_variant,,ENST00000511188,;ART3,non_coding_transcript_exon_variant,,ENST00000510669,;ART3,non_coding_transcript_exon_variant,,ENST00000504112,;ART3,non_coding_transcript_exon_variant,,ENST00000506667,;ART3,non_coding_transcript_exon_variant,,ENST00000395688,;NUP54,downstream_gene_variant,,ENST00000508465,;ART3,downstream_gene_variant,,ENST00000506313,;ART3,non_coding_transcript_exon_variant,,ENST00000510863,;NUP54,downstream_gene_variant,,ENST00000507257,;NUP54,downstream_gene_variant,,ENST00000508604,;NUP54,downstream_gene_variant,,ENST00000502850,;NUP54,downstream_gene_variant,,ENST00000512151,;NUP54,downstream_gene_variant,,ENST00000513248,;							MODERATE	1163/1170	A388D	NAR3_HUMAN			Transcript		benign(0.009)	.	ENSP00000348064		CCDS47079.1			1	
OR11H6	0	LGGM	GRCh37	14	20691884	20691884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	39	3	.	.	ENST00000315519.2:c.16C>A	p.His6Asn	p.H6N	ENST00000315519	NM_001004480.1	6	Cat/Aat	0	1	1	UPI000004B1F1	0	NA	ENST00000315519		ENSG00000176219	15349		42	0		HGNC	p.H6N		OR11H6		SNV							ENST00000315519	protein_coding	getma.org/?cm=var&var=hg19,14,20691884,C,A&fts=all		hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF90		H/N		A	neutral	94/1174		getma.org/?cm=msa&ty=f&p=O11H6_HUMAN&rb=1&re=156&var=H6N	deleterious_low_confidence(0.03)				YES	OR11H6,missense_variant,p.His6Asn,ENST00000315519,NM_001004480.1;							MODERATE	16/993	H6N	O11H6_HUMAN			Transcript		benign(0.064)	.	ENSP00000319071		CCDS32033.1			1	
CAPZA3	0	LGGM	GRCh37	12	18891623	18891623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	37	3	.	.	ENST00000317658.3:c.421C>A	p.Leu141Met	p.L141M	ENST00000317658	NM_033328.2	141	Ctg/Atg	0	1	1	UPI00001270FE	0	getma.org/pdb.php?prot=CAZA3_HUMAN&from=10&to=278&var=L141M	ENST00000317658		ENSG00000177938	24205		40	0		HGNC	p.L141M		CAPZA3		SNV							ENST00000317658	protein_coding	getma.org/?cm=var&var=hg19,12,18891623,C,A&fts=all		Pfam_domain:PF01267,hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF6,Superfamily_domains:SSF90096		L/M		A	neutral	579/1077		getma.org/?cm=msa&ty=f&p=CAZA3_HUMAN&rb=10&re=278&var=L141M	deleterious(0.04)				YES	CAPZA3,missense_variant,p.Leu141Met,ENST00000317658,NM_033328.2;PLCZ1,upstream_gene_variant,,ENST00000447925,NM_033123.3;PLCZ1,upstream_gene_variant,,ENST00000266505,;PLCZ1,upstream_gene_variant,,ENST00000435379,;PLCZ1,upstream_gene_variant,,ENST00000539875,;PLCZ1,upstream_gene_variant,,ENST00000543242,;PLCZ1,upstream_gene_variant,,ENST00000541966,;PLCZ1,upstream_gene_variant,,ENST00000539072,;RP11-361I14.2,downstream_gene_variant,,ENST00000536931,;PLCZ1,upstream_gene_variant,,ENST00000545129,;PLCZ1,upstream_gene_variant,,ENST00000541109,;PLCZ1,upstream_gene_variant,,ENST00000318197,;PLCZ1,upstream_gene_variant,,ENST00000539207,;PLCZ1,upstream_gene_variant,,ENST00000544849,;PLCZ1,upstream_gene_variant,,ENST00000535429,;							MODERATE	421/900	L141M	CAZA3_HUMAN			Transcript		benign(0.111)	.	ENSP00000326238		CCDS8681.1			1	
DIO1	0	LGGM	GRCh37	1	54375663	54375663	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	3	.	.	ENST00000361921.3:c.741C>A	p.Leu247=	p.L247=	ENST00000361921	NM_213593.3	247	ctC/ctA	0	1	1	UPI0000161B1A	0		ENST00000361921		ENSG00000211452	2883		12			HGNC	p.L199L		DIO1		SNV			1				ENST00000388876	protein_coding			PIRSF_domain:PIRSF001330,PIRSF_domain:PIRSF500144,Pfam_domain:PF00837,Gene3D:3.40.30.10,hmmpanther:PTHR11781:SF7,hmmpanther:PTHR11781		L		A		765/1861				D3DQ42_HUMAN,A8K415_HUMAN			YES	DIO1,synonymous_variant,p.=,ENST00000361921,NM_213593.3,NM_000792.5;DIO1,synonymous_variant,p.=,ENST00000524406,;DIO1,synonymous_variant,p.=,ENST00000388876,NM_001039715.1;DIO1,synonymous_variant,p.=,ENST00000525202,;DIO1,3_prime_UTR_variant,,ENST00000322679,NM_001039716.1;DIO1,3_prime_UTR_variant,,ENST00000532493,;DIO1,downstream_gene_variant,,ENST00000529589,;DIO1,downstream_gene_variant,,ENST00000534069,;DIO1,3_prime_UTR_variant,,ENST00000527060,;DIO1,3_prime_UTR_variant,,ENST00000530084,;DIO1,3_prime_UTR_variant,,ENST00000528946,;DIO1,3_prime_UTR_variant,,ENST00000525044,;DIO1,3_prime_UTR_variant,,ENST00000529329,;							LOW	741/750		IOD1_HUMAN			Transcript			.	ENSP00000354643		CCDS41339.1			1	
FAM129B	0	LGGM	GRCh37	9	130293973	130293973	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	3	.	.	ENST00000373312.3:c.140A>G	p.Glu47Gly	p.E47G	ENST00000373312	NM_022833.2	47	gAg/gGg	0	1	1	UPI00001592F0	0	NA	ENST00000373312		ENSG00000136830	25282		18	1.385		HGNC	p.E47G		FAM129B		SNV							ENST00000373312	protein_coding	getma.org/?cm=var&var=hg19,9,130293973,T,C&fts=all		hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392		E/G		C	low	354/3957		getma.org/?cm=msa&ty=f&p=NIBL1_HUMAN&rb=6&re=731&var=E47G	deleterious(0)	Q9H6L6_HUMAN			YES	FAM129B,missense_variant,p.Glu47Gly,ENST00000373312,NM_022833.2;FAM129B,missense_variant,p.Glu34Gly,ENST00000373314,NM_001035534.1;FAM129B,non_coding_transcript_exon_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,intron_variant,,ENST00000478917,;FAM129B,upstream_gene_variant,,ENST00000476091,;							MODERATE	140/2241	E47G	NIBL1_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000362409		CCDS35145.1			1	
ZSWIM3	0	LGGM	GRCh37	20	44505843	44505843	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	35	3	.	.	ENST00000255152.2:c.646C>A	p.Arg216Ser	p.R216S	ENST00000255152	NM_080752.3	216	Cgc/Agc	0	1	1	UPI00000736E4	0	NA	ENST00000255152		ENSG00000132801	16157		38	1.04		HGNC	p.R210S		ZSWIM3		SNV							ENST00000454862	protein_coding	getma.org/?cm=var&var=hg19,20,44505843,C,A&fts=all		hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569		R/S		A	low	855/2773		getma.org/?cm=msa&ty=f&p=ZSWM3_HUMAN&rb=171&re=251&var=R216S	deleterious(0.01)				YES	ZSWIM3,missense_variant,p.Arg216Ser,ENST00000255152,NM_080752.3;ZSWIM3,missense_variant,p.Arg210Ser,ENST00000454862,;ZSWIM1,upstream_gene_variant,,ENST00000372523,NM_080603.4;ZSWIM1,upstream_gene_variant,,ENST00000372520,;							MODERATE	646/2091	R216S	ZSWM3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000255152		CCDS13381.1			1	
IRS1	0	LGGM	GRCh37	2	227662425	227662425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	11	3	.	.	ENST00000305123.5:c.1030G>T	p.Gly344Cys	p.G344C	ENST00000305123	NM_005544.2	344	Ggc/Tgc	0	1	1	UPI000003BB52	0	NA	ENST00000305123		ENSG00000169047	6125		14	2.19		HGNC	p.G344C		IRS1		SNV			1				ENST00000305123	protein_coding	getma.org/?cm=var&var=hg19,2,227662425,C,A&fts=all		hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614		G/C		A	medium	2051/9705		getma.org/?cm=msa&ty=f&p=IRS1_HUMAN&rb=263&re=462&var=G344C	deleterious(0)				YES	IRS1,missense_variant,p.Gly344Cys,ENST00000305123,NM_005544.2;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;							MODERATE	1030/3729	G344C	IRS1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000304895		CCDS2463.1			1	
KIF2C	0	LGGM	GRCh37	1	45232844	45232844	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	3	.	.	ENST00000372224.4:c.2171C>A	p.Pro724His	p.P724H	ENST00000372224	NM_006845.3	724	cCc/cAc	0	1	1	UPI000012DDAD	0	NA	ENST00000372224		ENSG00000142945	6393		22	0		HGNC	p.P670H		KIF2C		SNV							ENST00000372217	protein_coding	getma.org/?cm=var&var=hg19,1,45232844,C,A&fts=all				P/H		A	neutral	2284/2879		getma.org/?cm=msa&ty=f&p=KIF2C_HUMAN&rb=683&re=725&var=P724H	tolerated(0.05)	Q8N5N1_HUMAN,B7Z7M6_HUMAN			YES	KIF2C,missense_variant,p.Pro670His,ENST00000372217,;KIF2C,missense_variant,p.Pro724His,ENST00000372224,NM_006845.3;KIF2C,missense_variant,p.Pro683His,ENST00000372218,;KIF2C,missense_variant,p.Pro611His,ENST00000372222,;KIF2C,downstream_gene_variant,,ENST00000423289,;RP11-269F19.2,intron_variant,,ENST00000428791,;RP11-269F19.2,upstream_gene_variant,,ENST00000440985,;KIF2C,downstream_gene_variant,,ENST00000472235,;							MODERATE	2171/2178	P724H	KIF2C_HUMAN			Transcript		benign(0.008)	.	ENSP00000361298		CCDS512.1			1	
ANKRD36C	0	LGGM	GRCh37	2	96551818	96551818	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	44	3	.	.	ENST00000295246.5:c.1404G>T	p.Lys468Asn	p.K468N	ENST00000295246		468	aaG/aaT	0	1	1	UPI00016620F5	0	NA	ENST00000456556		ENSG00000174501	32946		47	1.765		HGNC	p.K74N		ANKRD36C		SNV							ENST00000419039	protein_coding	getma.org/?cm=var&var=hg19,2,96551818,C,A&fts=all		hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176		K/N		A	low	3226/5428		getma.org/?cm=msa&ty=f&p=H7C425_HUMAN&rb=201&re=400&var=K298N	deleterious(0)	I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN				ANKRD36C,missense_variant,p.Lys1047Asn,ENST00000456556,;ANKRD36C,missense_variant,p.Lys74Asn,ENST00000419039,;ANKRD36C,missense_variant,p.Lys298Asn,ENST00000420871,;ANKRD36C,missense_variant,p.Lys468Asn,ENST00000295246,;ANKRD36C,3_prime_UTR_variant,,ENST00000534304,;ANKRD36C,non_coding_transcript_exon_variant,,ENST00000531153,;							MODERATE	3141/5337	K298N	AN36C_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000403302					1	
CEBPE	0	LGGM	GRCh37	14	23586913	23586913	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	3	.	.	ENST00000206513.5:c.629G>A	p.Arg210Lys	p.R210K	ENST00000206513	NM_001805.3	210	aGg/aAg	0	1	1	UPI000013C660	0	getma.org/pdb.php?prot=CEBPE_HUMAN&from=203&to=256&var=R210K	ENST00000206513		ENSG00000092067	1836		18	1.865		HGNC	p.R210K		CEBPE		SNV			1				ENST00000206513	protein_coding	getma.org/?cm=var&var=hg19,14,23586913,C,T&fts=all		Pfam_domain:PF07716,PIRSF_domain:PIRSF005879,PROSITE_profiles:PS50217,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF17,SMART_domains:SM00338,Superfamily_domains:SSF57959		R/K		T	low	1154/1554		getma.org/?cm=msa&ty=f&p=CEBPE_HUMAN&rb=203&re=256&var=R210K	deleterious(0)				YES	CEBPE,missense_variant,p.Arg210Lys,ENST00000206513,NM_001805.3;							MODERATE	629/846	R210K	CEBPE_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000206513		CCDS9589.1			1	
HTRA4	0	LGGM	GRCh37	8	38835575	38835575	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	21	3	.	.	ENST00000302495.4:c.875C>A	p.Ala292Glu	p.A292E	ENST00000302495	NM_153692.3	292	gCa/gAa	0	1	1	UPI0000001BEC	0	getma.org/pdb.php?prot=HTRA4_HUMAN&from=202&to=340&var=A292E	ENST00000302495		ENSG00000169495	26909		24	1.645		HGNC	p.A292E		HTRA4		SNV							ENST00000302495	protein_coding	getma.org/?cm=var&var=hg19,8,38835575,C,A&fts=all		hmmpanther:PTHR22939,hmmpanther:PTHR22939:SF16,Pfam_domain:PF13365,Gene3D:2.40.10.10,Superfamily_domains:SSF50494,Prints_domain:PR00834		A/E		A	low	975/2095		getma.org/?cm=msa&ty=f&p=HTRA4_HUMAN&rb=202&re=340&var=A292E	deleterious(0.01)	B4DTF7_HUMAN			YES	HTRA4,missense_variant,p.Ala292Glu,ENST00000302495,NM_153692.3;PLEKHA2,downstream_gene_variant,,ENST00000420274,NM_021623.1;PLEKHA2,downstream_gene_variant,,ENST00000388745,;							MODERATE	875/1431	A292E	HTRA4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000305919		CCDS6110.1			1	
PDXDC1	0	LGGM	GRCh37	16	15092258	15092258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	45	3	.	.	ENST00000396410.4:c.157G>T	p.Gly53Cys	p.G53C	ENST00000396410	NM_015027.2	53	Ggc/Tgc	0	1	1	UPI000004A864	0	NA	ENST00000396410		ENSG00000179889	28995		48	1.87		HGNC	p.G52C		PDXDC1		SNV							ENST00000450288	protein_coding	getma.org/?cm=var&var=hg19,16,15092258,G,T&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF73,Superfamily_domains:SSF53383		G/C		T	low	254/3884		getma.org/?cm=msa&ty=f&p=PDXD1_HUMAN&rb=1&re=154&var=G53C	deleterious(0)	J3KNK7_HUMAN,H3BU11_HUMAN,H3BQS3_HUMAN,H3BM88_HUMAN			YES	PDXDC1,missense_variant,p.Gly53Cys,ENST00000396410,NM_015027.2,NM_001285447.1;PDXDC1,missense_variant,p.Gly53Cys,ENST00000569715,NM_001285444.1;PDXDC1,missense_variant,p.Gly71Cys,ENST00000563679,;PDXDC1,missense_variant,p.Gly38Cys,ENST00000325823,;PDXDC1,missense_variant,p.Gly52Cys,ENST00000450288,NM_001285445.1;PDXDC1,missense_variant,p.Gly38Cys,ENST00000447912,NM_001285448.1;PDXDC1,missense_variant,p.Gly53Cys,ENST00000455313,NM_001285450.1;PDXDC1,missense_variant,p.Gly53Cys,ENST00000535621,NM_001285449.1;PDXDC1,missense_variant,p.Gly38Cys,ENST00000567306,;PDXDC1,missense_variant,p.Gly38Cys,ENST00000563522,;PDXDC1,missense_variant,p.Gly98Cys,ENST00000563667,;PDXDC1,downstream_gene_variant,,ENST00000566426,;PDXDC1,missense_variant,p.Gly53Cys,ENST00000562119,;PDXDC1,missense_variant,p.Gly53Cys,ENST00000565362,;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,;							MODERATE	157/2367	G53C	PDXD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379691		CCDS32393.1			1	
MTOR	0	LGGM	GRCh37	1	11291050	11291050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	32	3	.	.	ENST00000361445.4:c.2711G>T	p.Gly904Val	p.G904V	ENST00000361445	NM_004958.3	904	gGc/gTc	0	1	1	UPI000012ABD3	0	NA	ENST00000361445		ENSG00000198793	3942		35	1.915		HGNC	p.G904V		MTOR		SNV			1				ENST00000361445	protein_coding	getma.org/?cm=var&var=hg19,1,11291050,C,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF11865,Gene3D:1.25.10.10		G/V		A	medium	2788/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=854&re=1024&var=G904V	deleterious(0.01)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Gly904Val,ENST00000361445,NM_004958.3;RNU6-291P,downstream_gene_variant,,ENST00000384720,;RPL39P6,upstream_gene_variant,,ENST00000448289,;							MODERATE	2711/7650	G904V	MTOR_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000354558		CCDS127.1			1	
ASXL1	0	LGGM	GRCh37	20	31024820	31024820	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	29	3	.	.	ENST00000375687.4:c.4305C>A	p.Ser1435Arg	p.S1435R	ENST00000375687	NM_015338.5	1435	agC/agA	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		32	0.55		HGNC	p.S1435R		ASXL1		SNV			1				ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31024820,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		S/R		A	neutral	4729/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=1342&re=1474&var=S1435R	deleterious(0.02)				YES	ASXL1,missense_variant,p.Ser1435Arg,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Ser1430Arg,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							MODERATE	4305/4626	S1435R	ASXL1_HUMAN			Transcript		benign(0.159)	.	ENSP00000364839		CCDS13201.1			1	
ZNF606	0	LGGM	GRCh37	19	58491507	58491507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	47	3	.	.	ENST00000341164.4:c.541G>T	p.Asp181Tyr	p.D181Y	ENST00000341164	NM_025027.3	181	Gac/Tac	0	1	1	UPI000013C35B	0	NA	ENST00000341164		ENSG00000166704	25879		50	1.76		HGNC	p.D181Y		ZNF606		SNV							ENST00000551380	protein_coding	getma.org/?cm=var&var=hg19,19,58491507,C,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF278		D/Y		A	low	1162/4248		getma.org/?cm=msa&ty=f&p=ZN606_HUMAN&rb=103&re=302&var=D181Y	deleterious(0.02)	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN			YES	ZNF606,missense_variant,p.Asp181Tyr,ENST00000341164,NM_025027.3;ZNF606,missense_variant,p.Asp91Tyr,ENST00000536132,;ZNF606,missense_variant,p.Asp181Tyr,ENST00000551380,;ZNF606,3_prime_UTR_variant,,ENST00000550599,;							MODERATE	541/2379	D181Y	ZN606_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000343617		CCDS12968.1			1	
CEP170B	0	LGGM	GRCh37	14	105361061	105361061	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	23	3	.	.	ENST00000414716.3:c.4431C>A	p.Ile1477=	p.I1477=	ENST00000414716	NM_001112726.2	1477	atC/atA	0	1	1	UPI00001FDCF7	0		ENST00000414716		ENSG00000099814	20362		26			HGNC	p.I1407I		CEP170B		SNV							ENST00000418279	protein_coding			hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18,Pfam_domain:PF15308		I		A		4659/6705				E9PFC1_HUMAN			YES	CEP170B,synonymous_variant,p.=,ENST00000453495,;CEP170B,synonymous_variant,p.=,ENST00000414716,NM_001112726.2;CEP170B,synonymous_variant,p.=,ENST00000556508,NM_015005.2;CEP170B,synonymous_variant,p.=,ENST00000418279,;CEP170B,non_coding_transcript_exon_variant,,ENST00000251181,;							LOW	4431/4665		C170B_HUMAN			Transcript			.	ENSP00000404151		CCDS45175.1			1	
PAPLN	0	LGGM	GRCh37	14	73720514	73720514	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	3	.	.	ENST00000340738.5:c.1066C>A	p.Gln356Lys	p.Q356K	ENST00000340738	NM_173462.3	356	Cag/Aag	0	1		UPI0001890E03	0		ENST00000554301		ENSG00000100767	19262		18			HGNC	p.Q383K		PAPLN		SNV							ENST00000555445	protein_coding			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF20,SMART_domains:SM00209,Superfamily_domains:SSF82895		Q/K		A		1310/4090			deleterious(0)	B3KXI1_HUMAN				PAPLN,missense_variant,p.Gln383Lys,ENST00000427855,;PAPLN,missense_variant,p.Gln356Lys,ENST00000340738,NM_173462.3;PAPLN,missense_variant,p.Gln383Lys,ENST00000381166,;PAPLN,missense_variant,p.Gln383Lys,ENST00000555445,;PAPLN,missense_variant,p.Gln383Lys,ENST00000554301,;PAPLN,missense_variant,p.Gln383Lys,ENST00000216658,;PAPLN,missense_variant,p.Gln356Lys,ENST00000555123,;PAPLN,downstream_gene_variant,,ENST00000555035,;							MODERATE	1147/3837		PPN_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000451803					1	
ALKBH5	0	LGGM	GRCh37	17	18087874	18087874	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	31	3	.	.	ENST00000399138.4:c.317G>A	p.Arg106His	p.R106H	ENST00000399138	NM_017758.3	106	cGc/cAc	0	1	1	UPI0000200AE2	0	NA	ENST00000399138		ENSG00000091542	25996		34	0		HGNC	p.R106H		ALKBH5		SNV							ENST00000399138	protein_coding	getma.org/?cm=var&var=hg19,17,18087874,G,A&fts=all		Gene3D:3i3qA00,hmmpanther:PTHR32074,hmmpanther:PTHR32074:SF2		R/H		A	neutral	322/2748		getma.org/?cm=msa&ty=f&p=ALKB5_HUMAN&rb=88&re=293&var=R106H	tolerated(0.13)	K7ER58_HUMAN			YES	ALKBH5,missense_variant,p.Arg106His,ENST00000399138,NM_017758.3;ALKBH5,intron_variant,,ENST00000541285,;MYO15A,downstream_gene_variant,,ENST00000205890,NM_016239.3;RP11-258F1.1,non_coding_transcript_exon_variant,,ENST00000583062,;RP11-258F1.1,non_coding_transcript_exon_variant,,ENST00000577847,;MYO15A,downstream_gene_variant,,ENST00000433411,;							MODERATE	317/1185	R106H	ALKB5_HUMAN			Transcript		possibly_damaging(0.813)	.	ENSP00000382091		CCDS42272.1			1	
AVL9	0	LGGM	GRCh37	7	32588528	32588528	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	25	3	.	.	ENST00000318709.4:c.370C>A	p.Leu124Met	p.L124M	ENST00000318709	NM_015060.1	124	Ctg/Atg	0	1	1	UPI0000049D97	0	NA	ENST00000318709		ENSG00000105778	28994		28	1.655		HGNC	p.L124M		AVL9		SNV							ENST00000318709	protein_coding	getma.org/?cm=var&var=hg19,7,32588528,C,A&fts=all		Pfam_domain:PF09794,hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF1		L/M		A	low	591/6982		getma.org/?cm=msa&ty=f&p=AVL9_HUMAN&rb=16&re=520&var=L124M	deleterious(0.01)				YES	AVL9,missense_variant,p.Leu124Met,ENST00000318709,NM_015060.1;AVL9,missense_variant,p.Leu55Met,ENST00000446718,;AVL9,missense_variant,p.Leu124Met,ENST00000409301,;AVL9,missense_variant,p.Leu124Met,ENST00000404479,;AVL9,intron_variant,,ENST00000485228,;							MODERATE	370/1947	L124M	AVL9_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000315568		CCDS34613.1			1	
EIF4A1	0	LGGM	GRCh37	17	7478520	7478520	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	47	3	.	.	ENST00000293831.8:c.289G>T	p.Asp97Tyr	p.D97Y	ENST00000293831	NM_001416.3	97	Gat/Tat	0	1	1	UPI000000411B	0	getma.org/pdb.php?prot=IF4A1_HUMAN&from=56&to=223&var=D97Y	ENST00000293831		ENSG00000161960	3282		50	1.25		HGNC	p.D61Y		EIF4A1		SNV							ENST00000583802	protein_coding	getma.org/?cm=var&var=hg19,17,7478520,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF221,SMART_domains:SM00487		D/Y		T	low	305/1756		getma.org/?cm=msa&ty=f&p=IF4A1_HUMAN&rb=56&re=223&var=D97Y	deleterious(0)	J3QLN6_HUMAN,J3QKZ9_HUMAN,J3KTN0_HUMAN,J3KTB5_HUMAN,J3KS93_HUMAN,B4DNH2_HUMAN			YES	EIF4A1,missense_variant,p.Asp97Tyr,ENST00000293831,NM_001416.3;EIF4A1,missense_variant,p.Asp97Tyr,ENST00000582746,;EIF4A1,missense_variant,p.Asp97Tyr,ENST00000577269,NM_001204510.1;EIF4A1,missense_variant,p.Asp81Tyr,ENST00000584860,;EIF4A1,missense_variant,p.Asp97Tyr,ENST00000578495,;EIF4A1,missense_variant,p.Asp81Tyr,ENST00000380512,;EIF4A1,missense_variant,p.Asp97Tyr,ENST00000584784,;EIF4A1,missense_variant,p.Asp81Tyr,ENST00000577929,;EIF4A1,missense_variant,p.Asp108Tyr,ENST00000581384,;EIF4A1,missense_variant,p.Asp95Tyr,ENST00000585024,;EIF4A1,missense_variant,p.Asp61Tyr,ENST00000583802,;EIF4A1,missense_variant,p.Asp61Tyr,ENST00000582169,;EIF4A1,5_prime_UTR_variant,,ENST00000578754,;SENP3,downstream_gene_variant,,ENST00000321337,NM_015670.5;SENP3,downstream_gene_variant,,ENST00000429205,;CD68,upstream_gene_variant,,ENST00000250092,NM_001251.2;CD68,upstream_gene_variant,,ENST00000380498,NM_001040059.1;EIF4A1,upstream_gene_variant,,ENST00000583389,;SENP3,downstream_gene_variant,,ENST00000580231,;CD68,upstream_gene_variant,,ENST00000584502,;SENP3,downstream_gene_variant,,ENST00000582789,;SENP3,downstream_gene_variant,,ENST00000581093,;EIF4A1,downstream_gene_variant,,ENST00000581770,;SNORD10,upstream_gene_variant,,ENST00000459579,NR_002604.2;SNORA67,upstream_gene_variant,,ENST00000384423,NR_002912.1;SNORA48,downstream_gene_variant,,ENST00000386847,NR_002918.1;SNORA67,non_coding_transcript_exon_variant,,ENST00000581621,;SENP3-EIF4A1,non_coding_transcript_exon_variant,,ENST00000579777,;SENP3,downstream_gene_variant,,ENST00000578868,;SENP3,downstream_gene_variant,,ENST00000580042,;SENP3,downstream_gene_variant,,ENST00000578813,;EIF4A1,upstream_gene_variant,,ENST00000581808,;EIF4A1,3_prime_UTR_variant,,ENST00000580461,;EIF4A1,3_prime_UTR_variant,,ENST00000580888,;EIF4A1,3_prime_UTR_variant,,ENST00000578476,;EIF4A1,3_prime_UTR_variant,,ENST00000579139,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000578324,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000584798,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000396527,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000584901,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000584712,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000582848,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000577731,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000582213,;EIF4A1,non_coding_transcript_exon_variant,,ENST00000577738,;EIF4A1,intron_variant,,ENST00000581544,;EIF4A1,intron_variant,,ENST00000583899,;EIF4A1,downstream_gene_variant,,ENST00000584054,;EIF4A1,upstream_gene_variant,,ENST00000581841,;EIF4A1,upstream_gene_variant,,ENST00000583217,;EIF4A1,upstream_gene_variant,,ENST00000578569,;EIF4A1,upstream_gene_variant,,ENST00000582050,;EIF4A1,downstream_gene_variant,,ENST00000579085,;EIF4A1,downstream_gene_variant,,ENST00000580886,;SENP3,downstream_gene_variant,,ENST00000581010,;							MODERATE	289/1221	D97Y	IF4A1_HUMAN			Transcript		benign(0.386)	.	ENSP00000293831		CCDS11113.1			1	
LIG3	0	LGGM	GRCh37	17	33326461	33326461	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	3	.	.	ENST00000378526.4:c.2249T>C	p.Ile750Thr	p.I750T	ENST00000378526	NM_013975.3	750	aTc/aCc	0	1	1	UPI0000350B71	0	getma.org/pdb.php?prot=DNLI3_HUMAN&from=704&to=814&var=I750T	ENST00000378526		ENSG00000005156	6600		12	2.355		HGNC	p.I750T		LIG3		SNV							ENST00000378526	protein_coding	getma.org/?cm=var&var=hg19,17,33326461,T,C&fts=all		hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,Pfam_domain:PF04679,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00574,Superfamily_domains:SSF50249		I/T		C	medium	2382/3721		getma.org/?cm=msa&ty=f&p=DNLI3_HUMAN&rb=704&re=814&var=I750T	deleterious(0)	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN			YES	LIG3,missense_variant,p.Ile750Thr,ENST00000378526,NM_013975.3;LIG3,missense_variant,p.Ile750Thr,ENST00000262327,NM_002311.4;LIG3,non_coding_transcript_exon_variant,,ENST00000593099,;LIG3,non_coding_transcript_exon_variant,,ENST00000586119,;LIG3,downstream_gene_variant,,ENST00000590630,;LIG3,downstream_gene_variant,,ENST00000586058,;LIG3,downstream_gene_variant,,ENST00000588713,;LIG3,upstream_gene_variant,,ENST00000592244,;LIG3,downstream_gene_variant,,ENST00000585370,;							MODERATE	2249/3030	I750T	DNLI3_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000367787		CCDS11284.2			1	
TMEM52B	0	LGGM	GRCh37	12	10342662	10342662	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	3	.	.	ENST00000298530.3:c.415C>A	p.Leu139Ile	p.L139I	ENST00000298530	NM_153022.2	139	Cta/Ata	0	1		UPI000003777F	0	NA	ENST00000381923		ENSG00000165685	26438		27	2.045		HGNC	p.L139I		TMEM52B		SNV							ENST00000298530	protein_coding	getma.org/?cm=var&var=hg19,12,10342662,C,A&fts=all		Pfam_domain:PF14979		L/I		A	medium	879/2601		getma.org/?cm=msa&ty=f&p=CL059_HUMAN&rb=1&re=181&var=L159I	tolerated(0.19)	F5H230_HUMAN				TMEM52B,missense_variant,p.Leu139Ile,ENST00000298530,NM_153022.2;TMEM52B,missense_variant,p.Leu159Ile,ENST00000381923,NM_001079815.1;TMEM52B,missense_variant,p.Leu159Ile,ENST00000536952,;TMEM52B,downstream_gene_variant,,ENST00000543484,;TMEM52B,non_coding_transcript_exon_variant,,ENST00000546153,;							MODERATE	475/552	L159I	TM52B_HUMAN			Transcript		possibly_damaging(0.699)	.	ENSP00000371348		CCDS66314.1			1	
ZNF136	0	LGGM	GRCh37	19	12298415	12298415	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	23	3	.	.	ENST00000343979.4:c.1222C>A	p.Arg408=	p.R408=	ENST00000343979	NM_003437.3	408	Cga/Aga	0	1	1	UPI0000000C7B	0		ENST00000343979		ENSG00000196646	12920		26			HGNC	p.R408R		ZNF136		SNV							ENST00000343979	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF191,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		A		1362/3011				F8WES0_HUMAN,C9JR58_HUMAN,C9JJK8_HUMAN,C9J2Q9_HUMAN			YES	ZNF136,synonymous_variant,p.=,ENST00000343979,NM_003437.3;ZNF136,synonymous_variant,p.=,ENST00000398616,;ZNF136,downstream_gene_variant,,ENST00000418338,;ZNF136,downstream_gene_variant,,ENST00000439995,;ZNF136,downstream_gene_variant,,ENST00000425827,;ZNF136,non_coding_transcript_exon_variant,,ENST00000464860,;ZNF136,downstream_gene_variant,,ENST00000476676,;							LOW	1222/1623		ZN136_HUMAN			Transcript			.	ENSP00000344162		CCDS32916.1			1	
LIG3	0	LGGM	GRCh37	17	33326446	33326446	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	8	3	.	.	ENST00000378526.4:c.2234T>G	p.Leu745Arg	p.L745R	ENST00000378526	NM_013975.3	745	cTa/cGa	0	1	1	UPI0000350B71	0	getma.org/pdb.php?prot=DNLI3_HUMAN&from=704&to=814&var=L745R	ENST00000378526		ENSG00000005156	6600		11	2.8		HGNC	p.L745R		LIG3		SNV							ENST00000378526	protein_coding	getma.org/?cm=var&var=hg19,17,33326446,T,G&fts=all		hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF11,Pfam_domain:PF04679,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00574,Superfamily_domains:SSF50249		L/R		G	medium	2367/3721		getma.org/?cm=msa&ty=f&p=DNLI3_HUMAN&rb=704&re=814&var=L745R	deleterious(0)	E5KLB5_HUMAN,K7EQB6_HUMAN,K7ENR9_HUMAN,C4B7Q3_HUMAN,B7Z6I3_HUMAN			YES	LIG3,missense_variant,p.Leu745Arg,ENST00000378526,NM_013975.3;LIG3,missense_variant,p.Leu745Arg,ENST00000262327,NM_002311.4;LIG3,downstream_gene_variant,,ENST00000585941,;LIG3,non_coding_transcript_exon_variant,,ENST00000593099,;LIG3,non_coding_transcript_exon_variant,,ENST00000586119,;LIG3,downstream_gene_variant,,ENST00000590630,;LIG3,downstream_gene_variant,,ENST00000586058,;LIG3,downstream_gene_variant,,ENST00000588713,;LIG3,upstream_gene_variant,,ENST00000592244,;LIG3,downstream_gene_variant,,ENST00000585370,;							MODERATE	2234/3030	L745R	DNLI3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000367787		CCDS11284.2			1	
ZNF71	0	LGGM	GRCh37	19	57133325	57133325	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	22	3	.	.	ENST00000328070.6:c.670C>A	p.Arg224=	p.R224=	ENST00000328070	NM_021216.4	224	Cgg/Agg	0	1	1	UPI00000437FA	0		ENST00000328070		ENSG00000197951	13141		25			HGNC	p.R224R		ZNF71		SNV							ENST00000328070	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		A		904/5428				M0R0C0_HUMAN			YES	ZNF71,synonymous_variant,p.=,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,;							LOW	670/1470		ZNF71_HUMAN			Transcript			.	ENSP00000328245		CCDS12947.1			1	
CORIN	0	LGGM	GRCh37	4	47765535	47765535	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	31	3	.	.	ENST00000273857.4:c.478C>A	p.Leu160Ile	p.L160I	ENST00000273857	NM_006587.3	160	Ctc/Atc	0	1	1	UPI0000168657	0	getma.org/pdb.php?prot=CORIN_HUMAN&from=139&to=257&var=L160I	ENST00000273857		ENSG00000145244	19012		34	2.375		HGNC	p.L160I		CORIN		SNV			1				ENST00000273857	protein_coding	getma.org/?cm=var&var=hg19,4,47765535,G,T&fts=all		PROSITE_profiles:PS50038,hmmpanther:PTHR24270,Pfam_domain:PF01392,Gene3D:1ijyA00,SMART_domains:SM00063,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF63501		L/I		T	medium	478/4852		getma.org/?cm=msa&ty=f&p=CORIN_HUMAN&rb=139&re=257&var=L160I	tolerated(0.58)	Q8IZR7_HUMAN,E7EQE7_HUMAN			YES	CORIN,missense_variant,p.Leu160Ile,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Leu21Ile,ENST00000508498,;CORIN,missense_variant,p.Leu93Ile,ENST00000502252,NM_001278585.1;CORIN,missense_variant,p.Leu160Ile,ENST00000505909,;CORIN,missense_variant,p.Leu160Ile,ENST00000504584,NM_001278586.1;CORIN,non_coding_transcript_exon_variant,,ENST00000502726,;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;							MODERATE	478/3129	L160I	CORIN_HUMAN			Transcript		benign(0.012)	.	ENSP00000273857		CCDS3477.1			1	
PRR16	0	LGGM	GRCh37	5	120021881	120021881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	33	3	.	.	ENST00000379551.2:c.323C>A	p.Pro108His	p.P108H	ENST00000379551	NM_016644.1	108	cCt/cAt	0	1		UPI00004F9C36	0	NA	ENST00000407149		ENSG00000184838	29654		36	1.955		HGNC	p.P131H		PRR16		SNV							ENST00000407149	protein_coding	getma.org/?cm=var&var=hg19,5,120021881,C,A&fts=all		Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Low_complexity_(Seg):seg		P/H		A	medium	601/1747		getma.org/?cm=msa&ty=f&p=PRR16_HUMAN&rb=11&re=302&var=P131H	deleterious(0)	D6RGF0_HUMAN				PRR16,missense_variant,p.Pro108His,ENST00000379551,NM_016644.1;PRR16,missense_variant,p.Pro131His,ENST00000407149,;PRR16,missense_variant,p.Pro61His,ENST00000505123,;PRR16,missense_variant,p.Pro61His,ENST00000446965,;PRR16,missense_variant,p.Pro61His,ENST00000509923,;							MODERATE	392/915	P131H	PRR16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385118					1	
RANBP3	0	LGGM	GRCh37	19	5921222	5921222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	3	.	.	ENST00000340578.6:c.1320G>T	p.Gln440His	p.Q440H	ENST00000340578	NM_007322.2	440	caG/caT	0	1	1	UPI000006F919	0	getma.org/pdb.php?prot=RANB3_HUMAN&from=390&to=505&var=Q440H	ENST00000340578		ENSG00000031823	9850		22	1.845		HGNC	p.Q372H		RANBP3		SNV							ENST00000034275	protein_coding	getma.org/?cm=var&var=hg19,19,5921222,C,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00638,PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF91,SMART_domains:SM00160,Superfamily_domains:SSF50729		Q/H		A	low	1378/3233		getma.org/?cm=msa&ty=f&p=RANB3_HUMAN&rb=390&re=505&var=Q440H	deleterious(0.02)	K7ESQ0_HUMAN,K7EMH9_HUMAN,K7EIJ4_HUMAN			YES	RANBP3,missense_variant,p.Gln440His,ENST00000340578,NM_007322.2,NM_003624.2,NM_007320.2;RANBP3,missense_variant,p.Gln435His,ENST00000439268,;RANBP3,missense_variant,p.Gln367His,ENST00000591092,;RANBP3,missense_variant,p.Gln372His,ENST00000034275,;RANBP3,missense_variant,p.Gln312His,ENST00000541471,;RANBP3,missense_variant,p.Gln37His,ENST00000587479,;RANBP3,downstream_gene_variant,,ENST00000592621,;RANBP3,downstream_gene_variant,,ENST00000590623,;RANBP3,downstream_gene_variant,,ENST00000591736,;RANBP3,3_prime_UTR_variant,,ENST00000592771,;RANBP3,non_coding_transcript_exon_variant,,ENST00000587411,;RANBP3,non_coding_transcript_exon_variant,,ENST00000586344,;RANBP3,non_coding_transcript_exon_variant,,ENST00000592197,;RANBP3,downstream_gene_variant,,ENST00000593025,;RANBP3,downstream_gene_variant,,ENST00000587799,;							MODERATE	1320/1704	Q440H	RANB3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000341483		CCDS42478.1			1	
ZNRF3	0	LGGM	GRCh37	22	29446439	29446439	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	3	.	.	ENST00000544604.2:c.2270G>T	p.Gly757Val	p.G757V	ENST00000544604	NM_001206998.1	757	gGc/gTc	0	1	1	UPI0000EE5944	0	NA	ENST00000544604		ENSG00000183579	18126		19	1.845		HGNC	p.G657V		ZNRF3		SNV							ENST00000406323	protein_coding	getma.org/?cm=var&var=hg19,22,29446439,G,T&fts=all		hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200		G/V		T	low	2445/6851		getma.org/?cm=msa&ty=f&p=ZNRF3_HUMAN&rb=361&re=935&var=G757V	deleterious_low_confidence(0)				YES	ZNRF3,missense_variant,p.Gly757Val,ENST00000544604,NM_001206998.1;ZNRF3,missense_variant,p.Gly657Val,ENST00000332811,;ZNRF3,missense_variant,p.Gly657Val,ENST00000406323,;ZNRF3,missense_variant,p.Gly657Val,ENST00000402174,NM_032173.3;							MODERATE	2270/2811	G757V	ZNRF3_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000443824		CCDS56225.1			1	
XIRP1	0	LGGM	GRCh37	3	39227227	39227227	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	3	.	.	ENST00000340369.3:c.3710C>A	p.Ala1237Asp	p.A1237D	ENST00000340369	NM_194293.2	1237	gCc/gAc	0	1	1	UPI00001BFB06	0	NA	ENST00000340369		ENSG00000168334	14301		17	1.61		HGNC	p.A1237D		XIRP1		SNV							ENST00000340369	protein_coding	getma.org/?cm=var&var=hg19,3,39227227,G,T&fts=all		hmmpanther:PTHR22591		A/D		T	low	3939/6460		getma.org/?cm=msa&ty=f&p=XIRP1_HUMAN&rb=951&re=1841&var=A1237D	deleterious(0.01)				YES	XIRP1,missense_variant,p.Ala1237Asp,ENST00000340369,NM_194293.2;XIRP1,intron_variant,,ENST00000396251,NM_001198621.1;XIRP1,intron_variant,,ENST00000421646,;							MODERATE	3710/5532	A1237D	XIRP1_HUMAN			Transcript		possibly_damaging(0.518)	.	ENSP00000343140		CCDS2683.1			1	
HK2	0	LGGM	GRCh37	2	75112659	75112659	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	7	3	.	.	ENST00000290573.2:c.1878T>C	p.Ser626=	p.S626=	ENST00000290573	NM_000189.4	626	tcT/tcC	0	1	1	UPI00000706E4	0		ENST00000290573		ENSG00000159399	4923		10			HGNC	p.S598S		HK2		SNV							ENST00000409174	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF00349,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF4,Superfamily_domains:SSF53067		S		C		2478/5772				Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN			YES	HK2,synonymous_variant,p.=,ENST00000290573,NM_000189.4;HK2,synonymous_variant,p.=,ENST00000409174,;							LOW	1878/2754		HXK2_HUMAN			Transcript			.	ENSP00000290573		CCDS1956.1			1	
NRXN1	0	LGGM	GRCh37	2	50758507	50758507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	40	3	.	.	ENST00000404971.1:c.2325G>T	p.Met775Ile	p.M775I	ENST00000404971	NM_001135659.1	775	atG/atT	0	1		UPI0000130A9D	0	getma.org/pdb.php?prot=NRX1A_HUMAN&from=718&to=891&var=M735I	ENST00000406316		ENSG00000179915	8008		43	1.43		HGNC	p.M735I		NRXN1		SNV			1				ENST00000401669	protein_coding	getma.org/?cm=var&var=hg19,2,50758507,C,A&fts=all		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,Superfamily_domains:SSF49899		M/I		A	low	3682/7505		getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=718&re=891&var=M735I	tolerated(0.07)	Q08AH0_HUMAN				NRXN1,missense_variant,p.Met775Ile,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Met735Ile,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Met735Ile,ENST00000401669,;NRXN1,missense_variant,p.Met727Ile,ENST00000405472,;NRXN1,missense_variant,p.Met727Ile,ENST00000402717,;NRXN1,missense_variant,p.Met735Ile,ENST00000406859,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,intron_variant,,ENST00000495871,;NRXN1,upstream_gene_variant,,ENST00000474354,;							MODERATE	2205/4434	M735I	NRX1A_HUMAN			Transcript		benign(0.357)	.	ENSP00000384311		CCDS54360.1			1	
SPRY1	0	LGGM	GRCh37	4	124323054	124323054	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	30	3	.	.	ENST00000394339.2:c.308C>A	p.Pro103Gln	p.P103Q	ENST00000394339	NM_005841.2	103	cCa/cAa	0	1		UPI0000035D8F	0	NA	ENST00000339241		ENSG00000164056	11269		33	-0.695		HGNC	p.P103Q		SPRY1		SNV							ENST00000507703	protein_coding	getma.org/?cm=var&var=hg19,4,124323054,C,A&fts=all		hmmpanther:PTHR12365:SF10,hmmpanther:PTHR12365		P/Q		A	neutral	495/2348		getma.org/?cm=msa&ty=f&p=SPY1_HUMAN&rb=1&re=185&var=P103Q	tolerated(0.75)	D6RIE6_HUMAN,D6RHD2_HUMAN,D6REX7_HUMAN				SPRY1,missense_variant,p.Pro103Gln,ENST00000394339,NM_005841.2,NM_001258039.1;SPRY1,missense_variant,p.Pro103Gln,ENST00000339241,NM_199327.2;SPRY1,missense_variant,p.Pro103Gln,ENST00000507703,;SPRY1,downstream_gene_variant,,ENST00000505319,;SPRY1,downstream_gene_variant,,ENST00000508849,;SPRY1,downstream_gene_variant,,ENST00000515726,;							MODERATE	308/960	P103Q	SPY1_HUMAN			Transcript		benign(0)	.	ENSP00000343785		CCDS3731.1			1	
PIK3C2A	0	LGGM	GRCh37	11	17131991	17131991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	31	3	.	.	ENST00000265970.7:c.3532G>T	p.Gly1178Cys	p.G1178C	ENST00000265970	NM_002645.2	1178	Ggc/Tgc	0	1	1	UPI000013D6B3	0	getma.org/pdb.php?prot=P3C2A_HUMAN&from=1132&to=1347&var=G1178C	ENST00000265970		ENSG00000011405	8971		34	3.795		HGNC	p.G1178C		PIK3C2A		SNV							ENST00000265970	protein_coding	getma.org/?cm=var&var=hg19,11,17131991,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:3.30.1010.10,Pfam_domain:PF00454,hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048,PROSITE_profiles:PS50290		G/C		A	high	3532/8227		getma.org/?cm=msa&ty=f&p=P3C2A_HUMAN&rb=1132&re=1347&var=G1178C	deleterious(0)	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN			YES	PIK3C2A,missense_variant,p.Gly1178Cys,ENST00000265970,NM_002645.2;PIK3C2A,missense_variant,p.Gly798Cys,ENST00000540361,;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;							MODERATE	3532/5061	G1178C	P3C2A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265970		CCDS7824.1			1	
ACACB	0	LGGM	GRCh37	12	109684116	109684116	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	46	3	.	.	ENST00000338432.7:c.5434C>A	p.Arg1812=	p.R1812=	ENST00000338432		1812	Cgg/Agg	0	1	1	UPI0000DBEEFB	0		ENST00000338432		ENSG00000076555	85		49			HGNC	p.R478R		ACACB		SNV							ENST00000543201	protein_coding			Gene3D:3.90.226.10,Pfam_domain:PF01039,PROSITE_profiles:PS50980,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF52096		R		A		5553/9360				F5H5C3_HUMAN,E9PEW7_HUMAN			YES	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,non_coding_transcript_exon_variant,,ENST00000537347,;ACACB,non_coding_transcript_exon_variant,,ENST00000536440,;ACACB,upstream_gene_variant,,ENST00000396233,;ACACB,downstream_gene_variant,,ENST00000534852,;							LOW	5434/7377		ACACB_HUMAN			Transcript			.	ENSP00000341044		CCDS31898.1			1	
ZNF526	0	LGGM	GRCh37	19	42730465	42730465	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	32	3	.	.	ENST00000301215.3:c.1910C>A	p.Thr637Lys	p.T637K	ENST00000301215	NM_133444.1	637	aCa/aAa	0	1	1	UPI00001C2011	0	NA	ENST00000301215		ENSG00000167625	29415		35	0		HGNC	p.T637K		ZNF526		SNV							ENST00000301215	protein_coding	getma.org/?cm=var&var=hg19,19,42730465,C,A&fts=all		hmmpanther:PTHR24375:SF104,hmmpanther:PTHR24375		T/K		A	neutral	2135/4023		getma.org/?cm=msa&ty=f&p=ZN526_HUMAN&rb=604&re=668&var=T637K	deleterious_low_confidence(0.01)	M0R395_HUMAN,H9ZYJ3_HUMAN			YES	ZNF526,missense_variant,p.Thr637Lys,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,;							MODERATE	1910/2013	T637K	ZN526_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000301215		CCDS12598.1			1	
TTN	0	LGGM	GRCh37	2	179664395	179664395	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	43	3	.	.	ENST00000589042.1:c.733G>T	p.Ala245Ser	p.A245S	ENST00000589042	NM_001267550.1	245	Gct/Tct	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		46	0.205		HGNC	p.A245S	rs776877766	TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179664395,C,A&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		A/S		A	neutral	958/104301	5.99E-05	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=194&re=393&var=A245S		C9JQJ2_HUMAN				TTN,missense_variant,p.Ala245Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala245Ser,ENST00000591111,;TTN,missense_variant,p.Ala245Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala245Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala245Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala245Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ala245Ser,ENST00000360870,NM_133379.4;TTN,upstream_gene_variant,,ENST00000436599,;TTN,downstream_gene_variant,,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;							MODERATE	733/103053	A245S	TITIN_HUMAN			Transcript			.	ENSP00000465570	3.29E-05				1	
AMER3	0	LGGM	GRCh37	2	131520194	131520194	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	23	3	.	.	ENST00000423981.1:c.549C>T	p.Ser183=	p.S183=	ENST00000423981	NM_001105194.1	183	agC/agT	0	1		UPI0000D61239	0		ENST00000321420		ENSG00000178171	26771		26			HGNC	p.S183S		AMER3		SNV							ENST00000423981	protein_coding			hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2		S		T		808/3273				C9JS07_HUMAN,C9J4B8_HUMAN				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,;							LOW	549/2586		AMER3_HUMAN			Transcript			.	ENSP00000314914		CCDS2164.1			1	
CAT	0	LGGM	GRCh37	11	34472638	34472638	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	52	4	.	.	ENST00000241052.4:c.342C>G	p.Ser114=	p.S114=	ENST00000241052	NM_001752.3	114	tcC/tcG	0	1	1	UPI000002F090	0		ENST00000241052		ENSG00000121691	1516		56			HGNC	p.S114S		CAT		SNV			1				ENST00000241052	protein_coding			Prints_domain:PR00067,Superfamily_domains:SSF56634,SMART_domains:SM01060,PIRSF_domain:PIRSF038928,Gene3D:2.40.180.10,Pfam_domain:PF00199,hmmpanther:PTHR11465,PROSITE_profiles:PS51402		S		G		431/2302				Q8TAK2_HUMAN			YES	CAT,synonymous_variant,p.=,ENST00000241052,NM_001752.3;							LOW	342/1584		CATA_HUMAN			Transcript			.	ENSP00000241052		CCDS7891.1			1	
ST3GAL3	0	LGGM	GRCh37	1	44364855	44364855	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	4	.	.	ENST00000262915.3:c.684C>A	p.Arg228=	p.R228=	ENST00000262915	NM_174963.3	228	cgC/cgA	0	1		UPI000000D7A9	0		ENST00000361392		ENSG00000126091	10866		20			HGNC	p.R143R		ST3GAL3		SNV			1				ENST00000528371	protein_coding			hmmpanther:PTHR13713:SF6,hmmpanther:PTHR13713,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557		R		A		654/2243								ST3GAL3,synonymous_variant,p.=,ENST00000262915,NM_174963.3;ST3GAL3,synonymous_variant,p.=,ENST00000372375,NM_174968.3;ST3GAL3,synonymous_variant,p.=,ENST00000351035,NM_174971.3;ST3GAL3,synonymous_variant,p.=,ENST00000361392,NM_006279.3,NM_001270459.1,NM_174964.2;ST3GAL3,synonymous_variant,p.=,ENST00000361400,NM_174969.2;ST3GAL3,synonymous_variant,p.=,ENST00000372374,NM_001270460.1;ST3GAL3,synonymous_variant,p.=,ENST00000335430,;ST3GAL3,synonymous_variant,p.=,ENST00000353126,NM_001270461.1,NM_174966.2;ST3GAL3,synonymous_variant,p.=,ENST00000361746,;ST3GAL3,synonymous_variant,p.=,ENST00000347631,;ST3GAL3,synonymous_variant,p.=,ENST00000372368,;ST3GAL3,synonymous_variant,p.=,ENST00000372372,;ST3GAL3,synonymous_variant,p.=,ENST00000372369,;ST3GAL3,synonymous_variant,p.=,ENST00000332628,;ST3GAL3,synonymous_variant,p.=,ENST00000533933,;ST3GAL3,synonymous_variant,p.=,ENST00000531993,;ST3GAL3,synonymous_variant,p.=,ENST00000372365,;ST3GAL3,synonymous_variant,p.=,ENST00000372366,NM_001270465.1;ST3GAL3,synonymous_variant,p.=,ENST00000372367,NM_001270463.1;ST3GAL3,synonymous_variant,p.=,ENST00000528371,NM_001270464.1;ST3GAL3,intron_variant,,ENST00000372377,;ST3GAL3,intron_variant,,ENST00000545417,NM_174965.2;ST3GAL3,intron_variant,,ENST00000330208,NM_174967.2,NM_174970.2;ST3GAL3,intron_variant,,ENST00000361812,;ST3GAL3,intron_variant,,ENST00000372362,;ST3GAL3,intron_variant,,ENST00000531451,;ST3GAL3,intron_variant,,ENST00000531816,NM_001270466.1;ST3GAL3,upstream_gene_variant,,ENST00000490502,;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000461375,;ST3GAL3,synonymous_variant,p.=,ENST00000469715,;ST3GAL3,synonymous_variant,p.=,ENST00000530581,;ST3GAL3,3_prime_UTR_variant,,ENST00000530154,;ST3GAL3,3_prime_UTR_variant,,ENST00000533997,;ST3GAL3,3_prime_UTR_variant,,ENST00000489897,;ST3GAL3,3_prime_UTR_variant,,ENST00000490541,;ST3GAL3,intron_variant,,ENST00000533212,;							LOW	477/1128		SIAT6_HUMAN			Transcript			.	ENSP00000355341		CCDS492.1			1	
PPFIA2	0	LGGM	GRCh37	12	81839413	81839413	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	65	4	.	.	ENST00000549396.1:c.492C>A	p.Pro164=	p.P164=	ENST00000549396	NM_003625.3	164	ccC/ccA	0	1	1	UPI0000168655	0		ENST00000549396		ENSG00000139220	9246		69			HGNC	p.P90P		PPFIA2		SNV							ENST00000407050	protein_coding			hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587		P		T		653/5363				H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN			YES	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.=,ENST00000551442,;PPFIA2,upstream_gene_variant,,ENST00000548790,;RP11-315E17.1,intron_variant,,ENST00000550272,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000545296,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000548453,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000552020,;							LOW	492/3774		LIPA2_HUMAN			Transcript			.	ENSP00000450337		CCDS55857.1			1	
BPIFB4	0	LGGM	GRCh37	20	31678596	31678596	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	7	4	.	.	ENST00000375483.3:c.1134G>A	p.Leu378=	p.L378=	ENST00000375483	NM_182519.2	378	ctG/ctA	0	1	1	UPI0000206190	0		ENST00000375483		ENSG00000186191	16179		11			HGNC	p.L378L		BPIFB4		SNV							ENST00000375483	protein_coding			hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,Gene3D:1ewfA02,SMART_domains:SM00328,Superfamily_domains:SSF55394		L		A		1134/2159							YES	BPIFB4,synonymous_variant,p.=,ENST00000375483,NM_182519.2;BPIFB4,3_prime_UTR_variant,,ENST00000445356,;							LOW	1134/1845		BPIB4_HUMAN			Transcript			.	ENSP00000364632		CCDS13213.2			1	
SON	0	LGGM	GRCh37	21	34922283	34922283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	55	4	.	.	ENST00000356577.4:c.746C>A	p.Pro249Gln	p.P249Q	ENST00000356577	NM_138927.2	249	cCa/cAa	0	1	1	UPI0000140BFD	0	NA	ENST00000356577		ENSG00000159140	11183		59	1.04		HGNC	p.P249Q		SON		SNV							ENST00000356577	protein_coding	getma.org/?cm=var&var=hg19,21,34922283,C,A&fts=all		hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813		P/Q		A	low	1221/8813		getma.org/?cm=msa&ty=f&p=SON_HUMAN&rb=201&re=400&var=P249Q					YES	SON,missense_variant,p.Pro249Gln,ENST00000356577,NM_138927.2;SON,missense_variant,p.Pro249Gln,ENST00000290239,;SON,missense_variant,p.Pro249Gln,ENST00000381679,;SON,missense_variant,p.Pro249Gln,ENST00000300278,NM_032195.2;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000436227,;SON,downstream_gene_variant,,ENST00000492229,;SON,missense_variant,p.Pro249Gln,ENST00000455528,;SON,downstream_gene_variant,,ENST00000475072,;							MODERATE	746/7281	P249Q	SON_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000348984		CCDS13629.1			1	
COL2A1	0	LGGM	GRCh37	12	48372169	48372169	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	3	4	.	.	ENST00000380518.3:c.2908C>A	p.Pro970Thr	p.P970T	ENST00000380518	NM_033150.2	970	Cca/Aca	0	1	1	UPI0000D79713	0	getma.org/pdb.php?prot=CO2A1_HUMAN&from=918&to=1117&var=P970T	ENST00000380518		ENSG00000139219	2200		7	2.305		HGNC	p.P970T		COL2A1		SNV			1				ENST00000380518	protein_coding	getma.org/?cm=var&var=hg19,12,48372169,G,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58		P/T		T	medium	3073/5071		getma.org/?cm=msa&ty=f&p=CO2A1_HUMAN&rb=918&re=1117&var=P970T					YES	COL2A1,missense_variant,p.Pro970Thr,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,missense_variant,p.Pro901Thr,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,upstream_gene_variant,,ENST00000546974,;COL2A1,downstream_gene_variant,,ENST00000483376,;							MODERATE	2908/4464	P970T	CO2A1_HUMAN			Transcript		unknown(0)	.	ENSP00000369889		CCDS41778.1			1	
ENTHD1	0	LGGM	GRCh37	22	40283455	40283455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	58	4	.	.	ENST00000325157.6:c.298C>A	p.Leu100Ile	p.L100I	ENST00000325157	NM_152512.3	100	Ctt/Att	0	1	1	UPI00000741D2	0	getma.org/pdb.php?prot=ENTD1_HUMAN&from=14&to=137&var=L100I	ENST00000325157		ENSG00000176177	26352		62	-1.79		HGNC	p.L100I		ENTHD1		SNV							ENST00000325157	protein_coding	getma.org/?cm=var&var=hg19,22,40283455,G,T&fts=all		PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF51,Pfam_domain:PF01417,Gene3D:1.25.40.90,SMART_domains:SM00273,Superfamily_domains:SSF48464		L/I		T	neutral	549/2710		getma.org/?cm=msa&ty=f&p=ENTD1_HUMAN&rb=14&re=137&var=L100I	tolerated(0.68)				YES	ENTHD1,missense_variant,p.Leu100Ile,ENST00000325157,NM_152512.3;							MODERATE	298/1824	L100I	ENTD1_HUMAN			Transcript		benign(0.212)	.	ENSP00000317431		CCDS13998.1			1	
ZNF530	0	LGGM	GRCh37	19	58117100	58117100	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	13	4	.	.	ENST00000332854.6:c.207C>T	p.Ser69=	p.S69=	ENST00000332854	NM_020880.3	69	agC/agT	0	1	1	UPI0000199017	0		ENST00000332854		ENSG00000183647	29297		17			HGNC	p.S69S	rs529420510	ZNF530		SNV				9.63E-05			ENST00000332854	protein_coding		T:0.0008	PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF38,SMART_domains:SM00349		S		T		427/2962				M0R1P0_HUMAN	T:0	T:0	YES	ZNF530,synonymous_variant,p.=,ENST00000332854,NM_020880.3;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,;ZNF530,synonymous_variant,p.=,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,;		T:0.0002					LOW	207/1800		ZN530_HUMAN		T:0	Transcript			.	ENSP00000332861	8.24E-06	CCDS12955.1		T:0	1	
SERINC2	0	LGGM	GRCh37	1	31907023	31907023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	4	.	.	ENST00000373710.1:c.1372C>A	p.Leu458Met	p.L458M	ENST00000373710	NM_001199038.1	458	Ctg/Atg	0	1		UPI000013E76F	0	NA	ENST00000373709		ENSG00000168528	23231		18	1.6		HGNC	p.L453M		SERINC2		SNV							ENST00000536384	protein_coding	getma.org/?cm=var&var=hg19,1,31907023,C,A&fts=all		Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF22		L/M		A	low	1495/1997		getma.org/?cm=msa&ty=f&p=SERC2_HUMAN&rb=15&re=455&var=L449M	deleterious(0)					SERINC2,missense_variant,p.Leu458Met,ENST00000373710,NM_001199038.1;SERINC2,missense_variant,p.Leu453Met,ENST00000536384,NM_001199039.1,NM_018565.3;SERINC2,missense_variant,p.Leu449Met,ENST00000373709,NM_178865.4;SERINC2,missense_variant,p.Leu453Met,ENST00000536859,NM_001199037.1;AC114494.1,upstream_gene_variant,,ENST00000596131,;SERINC2,non_coding_transcript_exon_variant,,ENST00000491976,;							MODERATE	1345/1368	L449M	SERC2_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000362813		CCDS30662.1			1	
RBM26	0	LGGM	GRCh37	13	79941002	79941002	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	8	4	.	.	ENST00000267229.7:c.901G>T	p.Gly301Cys	p.G301C	ENST00000267229	NM_022118.3	301	Ggt/Tgt	0	1		UPI0000D61A89	0	NA	ENST00000438737		ENSG00000139746	20327		12	2.235		HGNC	p.G301C		RBM26		SNV							ENST00000438724	protein_coding	getma.org/?cm=var&var=hg19,13,79941002,C,A&fts=all		Gene3D:1m9oA00,PROSITE_profiles:PS50103,hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF2,SMART_domains:SM00356		G/C		A	medium	1342/4132		getma.org/?cm=msa&ty=f&p=RBM26_HUMAN&rb=281&re=480&var=G301C	deleterious(0)					RBM26,missense_variant,p.Gly301Cys,ENST00000438737,NM_001286631.1;RBM26,missense_variant,p.Gly301Cys,ENST00000267229,NM_022118.3;RBM26,missense_variant,p.Gly301Cys,ENST00000438724,NM_001286632.1;RBM26,upstream_gene_variant,,ENST00000461008,;							MODERATE	901/3024	G301C	RBM26_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000387531					1	
WDFY4	0	LGGM	GRCh37	10	49937505	49937505	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	11	4	.	.	ENST00000325239.5:c.1000G>T	p.Asp334Tyr	p.D334Y	ENST00000325239	NM_020945.1	334	Gac/Tac	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		15	1.6		HGNC	p.D334Y		WDFY4		SNV							ENST00000360890	protein_coding	getma.org/?cm=var&var=hg19,10,49937505,G,T&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Superfamily_domains:SSF48371		D/Y		T	low	1027/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=201&re=400&var=D334Y	tolerated(0.06)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Asp334Tyr,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Asp334Tyr,ENST00000413659,;WDFY4,missense_variant,p.Asp334Tyr,ENST00000360890,;							MODERATE	1000/9555	D334Y	WDFY4_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000320563		CCDS44385.1			1	
MSI2	0	LGGM	GRCh37	17	55752479	55752479	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	21	4	.	.	ENST00000284073.2:c.937G>A	p.Gly313Ser	p.G313S	ENST00000284073	NM_138962.2	313	Ggc/Agc	0	1	1	UPI0000070D73	0	NA	ENST00000284073		ENSG00000153944	18585		25	-0.665		HGNC	p.G252S	rs746667319	MSI2		SNV				0.0001			ENST00000442934	protein_coding	getma.org/?cm=var&var=hg19,17,55752479,G,A&fts=all		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF324		G/S		A	neutral	1146/6364		getma.org/?cm=msa&ty=f&p=MSI2H_HUMAN&rb=281&re=328&var=G313S	tolerated_low_confidence(1)				YES	MSI2,missense_variant,p.Gly313Ser,ENST00000284073,NM_138962.2;MSI2,missense_variant,p.Gly309Ser,ENST00000416426,;MSI2,missense_variant,p.Gly252Ser,ENST00000442934,;MSI2,downstream_gene_variant,,ENST00000579505,;MSI2,downstream_gene_variant,,ENST00000579466,;							MODERATE	937/987	G313S	MSI2H_HUMAN			Transcript		benign(0.002)	.	ENSP00000284073	8.24E-06	CCDS11596.1			1	
SIM1	0	LGGM	GRCh37	6	100897309	100897309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	4	.	.	ENST00000369208.3:c.473G>T	p.Arg158Leu	p.R158L	ENST00000369208		158	cGc/cTc	0	1		UPI000013D355	0	getma.org/pdb.php?prot=SIM1_HUMAN&from=79&to=167&var=R158L	ENST00000262901		ENSG00000112246	10882		18	4.01		HGNC	p.R158L	rs767580244	SIM1		SNV			1				ENST00000369208	protein_coding	getma.org/?cm=var&var=hg19,6,100897309,C,A&fts=all		hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Gene3D:3.30.450.20,Superfamily_domains:SSF55785		R/L		A	high	682/3999	1.52E-05	getma.org/?cm=msa&ty=f&p=SIM1_HUMAN&rb=79&re=167&var=R158L	deleterious(0)					SIM1,missense_variant,p.Arg158Leu,ENST00000369208,;SIM1,missense_variant,p.Arg158Leu,ENST00000262901,NM_005068.2;							MODERATE	473/2301	R158L	SIM1_HUMAN			Transcript		possibly_damaging(0.687)	.	ENSP00000262901	8.24E-06	CCDS5045.1			1	
FREM3	0	LGGM	GRCh37	4	144621439	144621439	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	1	4	.	.	ENST00000329798.5:c.390C>A	p.Gly130=	p.G130=	ENST00000329798	NM_001168235.1	130	ggC/ggA	0	1	1	UPI0000D615C2	0		ENST00000329798		ENSG00000183090	25172		5			HGNC	p.G130G		FREM3		SNV							ENST00000329798	protein_coding			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF30		G		T		390/6729							YES	FREM3,synonymous_variant,p.=,ENST00000329798,NM_001168235.1;RP13-578N3.3,non_coding_transcript_exon_variant,,ENST00000499587,;							LOW	390/6420		FREM3_HUMAN			Transcript			.	ENSP00000332886		CCDS54808.1			1	
ETFA	0	LGGM	GRCh37	15	76578824	76578824	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	5	.	.	ENST00000557943.1:c.452-2A>T		p.X151_splice	ENST00000557943	NM_000126.3			0	1	1	UPI0000001BC8	0		ENST00000557943		ENSG00000140374	3481		14			HGNC	-		ETFA		SNV			1				ENST00000557943	protein_coding							A		-/2287				H0YL83_HUMAN			YES	ETFA,splice_acceptor_variant,,ENST00000557943,NM_000126.3;ETFA,splice_acceptor_variant,,ENST00000433983,NM_001127716.1;ETFA,splice_acceptor_variant,,ENST00000560726,;ETFA,splice_acceptor_variant,,ENST00000560595,;ETFA,splice_acceptor_variant,,ENST00000559386,;ETFA,splice_acceptor_variant,,ENST00000559973,;ETFA,splice_acceptor_variant,,ENST00000559602,;ETFA,splice_acceptor_variant,,ENST00000560345,;ETFA,non_coding_transcript_exon_variant,,ENST00000560816,;ETFA,splice_acceptor_variant,,ENST00000559075,;ETFA,splice_acceptor_variant,,ENST00000267950,;ETFA,splice_acceptor_variant,,ENST00000560044,;ETFA,splice_acceptor_variant,,ENST00000560899,;ETFA,splice_acceptor_variant,,ENST00000559758,;ETFA,splice_acceptor_variant,,ENST00000560309,;ETFA,downstream_gene_variant,,ENST00000561092,;ETFA,upstream_gene_variant,,ENST00000558803,;							HIGH	452/1002		ETFA_HUMAN			Transcript			.	ENSP00000452762		CCDS32299.1			1	
CTB-102L5.4	0	LGGM	GRCh37	19	38795317	38795317	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	3	5	.	.	ENST00000301246.5:c.192G>A	p.Thr64=	p.T64=	ENST00000301246	NM_033520.1	64	acG/acA	0	1		UPI0003335069	0		ENST00000587519		ENSG00000267748			8			Clone_based_vega_gene	p.R84Q	rs773823889	CTB-102L5.4		SNV							ENST00000588605	protein_coding			hmmpanther:PTHR21830,hmmpanther:PTHR21830:SF0		T		A		412/487	1.53E-05						YES	CTB-102L5.4,missense_variant,p.Arg152Gln,ENST00000591889,;C19orf33,missense_variant,p.Arg84Gln,ENST00000588605,;CTB-102L5.4,synonymous_variant,p.=,ENST00000587519,;C19orf33,synonymous_variant,p.=,ENST00000301246,NM_033520.1;YIF1B,downstream_gene_variant,,ENST00000392124,NM_033557.3;YIF1B,downstream_gene_variant,,ENST00000337679,NM_001145463.1;YIF1B,downstream_gene_variant,,ENST00000339413,NM_001039673.2,NM_001039672.2;YIF1B,downstream_gene_variant,,ENST00000592694,;YIF1B,downstream_gene_variant,,ENST00000591755,;YIF1B,downstream_gene_variant,,ENST00000329420,NM_001039671.2,NM_001145461.1;YIF1B,downstream_gene_variant,,ENST00000591784,NM_001145462.1;YIF1B,downstream_gene_variant,,ENST00000592246,;YIF1B,downstream_gene_variant,,ENST00000589247,;YIF1B,downstream_gene_variant,,ENST00000588002,;YIF1B,downstream_gene_variant,,ENST00000587039,;YIF1B,downstream_gene_variant,,ENST00000587361,;C19orf33,non_coding_transcript_exon_variant,,ENST00000591852,;C19orf33,non_coding_transcript_exon_variant,,ENST00000589986,;YIF1B,downstream_gene_variant,,ENST00000589644,;YIF1B,downstream_gene_variant,,ENST00000585563,;YIF1B,downstream_gene_variant,,ENST00000586319,;YIF1B,downstream_gene_variant,,ENST00000589151,;							LOW	414/489					Transcript			.	ENSP00000465845	8.24E-06				1	
STON1	0	LGGM	GRCh37	2	48808208	48808208	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	5	.	.	ENST00000309835.3:c.436A>T	p.Thr146Ser	p.T146S	ENST00000309835		146	Act/Tct	0	1		UPI000006E627	0	NA	ENST00000404752		ENSG00000243244	17003		20	0.205		HGNC	p.T146S		STON1		SNV							ENST00000394751	protein_coding	getma.org/?cm=var&var=hg19,2,48808208,A,T&fts=all		PIRSF_domain:PIRSF037099,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18		T/S		T	neutral	529/5511		getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=1&re=200&var=T146S	tolerated(0.6)					STON1,missense_variant,p.Thr146Ser,ENST00000309835,;STON1,missense_variant,p.Thr146Ser,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Thr146Ser,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Thr146Ser,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Thr146Ser,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Thr146Ser,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Thr146Ser,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Thr146Ser,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;							MODERATE	436/2208	T146S	STON1_HUMAN			Transcript		benign(0.001)	.	ENSP00000385273		CCDS1841.1			1	
HSD17B12	0	LGGM	GRCh37	11	43702473	43702473	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	5	.	.	ENST00000278353.4:c.96G>T	p.Thr32=	p.T32=	ENST00000278353	NM_016142.2	32	acG/acT	0	1	1	UPI000004C79B	0		ENST00000278353		ENSG00000149084	18646		14			HGNC	p.T32T		HSD17B12		SNV							ENST00000395700	protein_coding			hmmpanther:PTHR24316:SF261,hmmpanther:PTHR24316,PIRSF_domain:PIRSF000126		T		T		215/2420				B4DWS6_HUMAN			YES	HSD17B12,synonymous_variant,p.=,ENST00000278353,NM_016142.2;HSD17B12,synonymous_variant,p.=,ENST00000395700,;HSD17B12,synonymous_variant,p.=,ENST00000531185,;HSD17B12,intron_variant,,ENST00000529261,;HSD17B12,intron_variant,,ENST00000532864,;HSD17B12,intron_variant,,ENST00000527433,;							LOW	96/939		DHB12_HUMAN			Transcript			.	ENSP00000278353		CCDS7905.1			1	
ZFP64	0	LGGM	GRCh37	20	50715003	50715003	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	10	5	.	.	ENST00000361387.2:c.887A>T	p.Glu296Val	p.E296V	ENST00000361387	NM_199427.2	296	gAg/gTg	0	1	1	UPI000013C56C	0	NA	ENST00000361387		ENSG00000020256	15940		15	1.87		HGNC	p.E99V		ZFP64		SNV							ENST00000395989	protein_coding	getma.org/?cm=var&var=hg19,20,50715003,T,A&fts=all		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27		E/V		A	low	948/2545		getma.org/?cm=msa&ty=f&p=ZF64B_HUMAN&rb=243&re=315&var=E296V	tolerated(0.08)					ZFP64,missense_variant,p.Glu296Val,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Glu77Val,ENST00000371523,;ZFP64,missense_variant,p.Glu296Val,ENST00000371518,;ZFP64,missense_variant,p.Glu99Val,ENST00000395989,;ZFP64,missense_variant,p.Glu99Val,ENST00000395979,;ZFP64,missense_variant,p.Glu2Val,ENST00000456175,;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;ZFP64,non_coding_transcript_exon_variant,,ENST00000467811,;							MODERATE	887/1938	E296V	ZF64B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000355179		CCDS13439.1			1	
GLIPR1L2	0	LGGM	GRCh37	12	75824782	75824782	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	18	5	.	.	ENST00000550916.1:c.876G>T	p.Glu292Asp	p.E292D	ENST00000550916	NM_001270396.1	292	gaG/gaT	0	1	1	UPI00001408B2	0		ENST00000550916		ENSG00000180481	28592		23			HGNC	p.E185D		GLIPR1L2		SNV							ENST00000378692	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10334:SF191,hmmpanther:PTHR10334		E/D		T		923/2609			tolerated(0.29)				YES	GLIPR1L2,missense_variant,p.Glu292Asp,ENST00000550916,NM_001270396.1;GLIPR1L2,missense_variant,p.Glu185Asp,ENST00000378692,;GLIPR1L2,missense_variant,p.Glu227Asp,ENST00000441218,;GLIPR1L2,3_prime_UTR_variant,,ENST00000435775,;							MODERATE	876/1035		GRPL2_HUMAN			Transcript		unknown(0)	.	ENSP00000448248		CCDS58258.1			1	
CD109	0	LGGM	GRCh37	6	74468736	74468736	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	20	5	.	.	ENST00000287097.5:c.743G>A	p.Gly248Asp	p.G248D	ENST00000287097		248	gGt/gAt	0	1	1	UPI000013DE92	0	getma.org/pdb.php?prot=CD109_HUMAN&from=222&to=421&var=G248D	ENST00000287097		ENSG00000156535	21685		25	1.935		HGNC	p.G248D		CD109		SNV			1				ENST00000287097	protein_coding	getma.org/?cm=var&var=hg19,6,74468736,G,A&fts=all		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29		G/D		A	medium	855/9130		getma.org/?cm=msa&ty=f&p=CD109_HUMAN&rb=222&re=421&var=G248D	deleterious(0)	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN			YES	CD109,missense_variant,p.Gly248Asp,ENST00000437994,NM_133493.3,NM_001159587.1;CD109,missense_variant,p.Gly171Asp,ENST00000422508,NM_001159588.1;CD109,missense_variant,p.Gly248Asp,ENST00000287097,;							MODERATE	743/4338	G248D	CD109_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000287097		CCDS4982.1			1	
POTEM	0	LGGM	GRCh37	14	20020035	20020035	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	131	5	.	.	ENST00000551509.1:c.186C>A	p.Gly62=	p.G62=	ENST00000551509	NM_001145442.1	62	ggC/ggA	0	1		UPI00006C1406	0		ENST00000547848		ENSG00000187537	37096		136			HGNC	p.G62G		POTEM		SNV							ENST00000551509	nonsense_mediated_decay			hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118		G		T		238/1975				F8W858_HUMAN				POTEM,synonymous_variant,p.=,ENST00000551509,NM_001145442.1;POTEM,synonymous_variant,p.=,ENST00000547722,;POTEM,synonymous_variant,p.=,ENST00000547848,;							LOW	186/1461					Transcript			.	ENSP00000450853					1	
FZD7	0	LGGM	GRCh37	2	202901061	202901061	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	5	.	.	ENST00000286201.1:c.1691T>A	p.Leu564His	p.L564H	ENST00000286201	NM_003507.1	564	cTt/cAt	0	1	1	UPI0000051051	0	NA	ENST00000286201		ENSG00000155760	4045		14	2.78		HGNC	p.L564H		FZD7		SNV							ENST00000286201	protein_coding	getma.org/?cm=var&var=hg19,2,202901061,T,A&fts=all		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31,Pfam_domain:PF01534		L/H		A	medium	1752/3851		getma.org/?cm=msa&ty=f&p=FZD7_HUMAN&rb=243&re=567&var=L564H	deleterious(0)				YES	FZD7,missense_variant,p.Leu564His,ENST00000286201,NM_003507.1;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;							MODERATE	1691/1725	L564H	FZD7_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000286201		CCDS2351.1			1	
KDM5C	0	LGGM	GRCh37	X	53246458	53246458	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	2	5	.	.	ENST00000375401.3:c.524A>T	p.Gln175Leu	p.Q175L	ENST00000375401	NM_004187.3	175	cAg/cTg	0	1	1	UPI000013CBE3	0	getma.org/pdb.php?prot=KDM5C_HUMAN&from=166&to=325&var=Q175L	ENST00000375401		ENSG00000126012	11114		7	2.075		HGNC	p.Q175L		KDM5C		SNV			1				ENST00000375379	protein_coding	getma.org/?cm=var&var=hg19,X,53246458,T,A&fts=all		hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,Superfamily_domains:SSF46774		Q/L		A	medium	1057/6031		getma.org/?cm=msa&ty=f&p=KDM5C_HUMAN&rb=166&re=325&var=Q175L	tolerated(0.23)				YES	KDM5C,splice_acceptor_variant,,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Gln108Leu,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Gln175Leu,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Gln175Leu,ENST00000375379,;KDM5C,missense_variant,p.Gln134Leu,ENST00000375383,;KDM5C-IT1,upstream_gene_variant,,ENST00000412242,;KDM5C,downstream_gene_variant,,ENST00000495519,;KDM5C,downstream_gene_variant,,ENST00000467093,;KDM5C,downstream_gene_variant,,ENST00000429877,;KDM5C,downstream_gene_variant,,ENST00000428012,;KDM5C,downstream_gene_variant,,ENST00000349663,;KDM5C,upstream_gene_variant,,ENST00000497995,;							MODERATE	524/4683	Q175L	KDM5C_HUMAN			Transcript		benign(0.201)	.	ENSP00000364550		CCDS14351.1			1	
TECPR1	0	LGGM	GRCh37	7	97850978	97850978	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	12	5	.	.	ENST00000447648.2:c.3152A>T	p.Glu1051Val	p.E1051V	ENST00000447648	NM_015395.2	1051	gAg/gTg	0	1	1	UPI0000161940	0	NA	ENST00000447648		ENSG00000205356	22214		17	1.95		HGNC	p.E1051V		TECPR1		SNV							ENST00000447648	protein_coding	getma.org/?cm=var&var=hg19,7,97850978,T,A&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF06462,hmmpanther:PTHR23250,hmmpanther:PTHR23250:SF1,SMART_domains:SM00706		E/V		A	medium	3452/6564		getma.org/?cm=msa&ty=f&p=TCPR1_HUMAN&rb=1044&re=1075&var=E1051V	deleterious(0.02)	C9JUV4_HUMAN			YES	TECPR1,missense_variant,p.Glu1051Val,ENST00000447648,NM_015395.2;TECPR1,missense_variant,p.Glu1053Val,ENST00000379795,;TECPR1,downstream_gene_variant,,ENST00000542604,;TECPR1,non_coding_transcript_exon_variant,,ENST00000462511,;TECPR1,downstream_gene_variant,,ENST00000479975,;TECPR1,downstream_gene_variant,,ENST00000479911,;TECPR1,downstream_gene_variant,,ENST00000476659,;TECPR1,non_coding_transcript_exon_variant,,ENST00000490842,;TECPR1,non_coding_transcript_exon_variant,,ENST00000463402,;TECPR1,non_coding_transcript_exon_variant,,ENST00000474915,;TECPR1,upstream_gene_variant,,ENST00000485716,;							MODERATE	3152/3498	E1051V	TCPR1_HUMAN			Transcript		possibly_damaging(0.551)	.	ENSP00000404923		CCDS47648.1			1	
DMD	0	LGGM	GRCh37	X	31241212	31241212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	43	5	.	.	ENST00000357033.4:c.9313G>T	p.Ala3105Ser	p.A3105S	ENST00000357033	NM_004007.2	3105	Gct/Tct	0	1	1	UPI000049E111	0	getma.org/pdb.php?prot=DMD_HUMAN&from=3087&to=3207&var=A3105S	ENST00000357033		ENSG00000198947	2928		48	2.735		HGNC	p.A645S		DMD		SNV			1				ENST00000359836	protein_coding	getma.org/?cm=var&var=hg19,X,31241212,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF09068,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47473		A/S		A	medium	9520/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=3087&re=3207&var=A3105S		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			YES	DMD,missense_variant,p.Ala3105Ser,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Ala3101Ser,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Ala645Ser,ENST00000378707,NM_004013.2,NM_004014.2;DMD,missense_variant,p.Ala645Ser,ENST00000359836,NM_004022.2;DMD,missense_variant,p.Ala645Ser,ENST00000541735,NM_004020.3;DMD,missense_variant,p.Ala645Ser,ENST00000343523,NM_004023.2;DMD,missense_variant,p.Ala801Ser,ENST00000358062,;DMD,missense_variant,p.Ala645Ser,ENST00000474231,NM_004021.2;DMD,missense_variant,p.Ala37Ser,ENST00000378723,NM_004016.2;DMD,missense_variant,p.Ala37Ser,ENST00000378702,NM_004015.2;DMD,missense_variant,p.Ala37Ser,ENST00000361471,NM_004017.2,NM_004018.2;DMD,missense_variant,p.Ala37Ser,ENST00000378680,;DMD,non_coding_transcript_exon_variant,,ENST00000469142,;							MODERATE	9313/11058	A3105S				Transcript		possibly_damaging(0.727)	.	ENSP00000354923		CCDS14233.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123480530	123480530	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	10	5	.	.	ENST00000529750.1:c.1256A>T	p.Glu419Val	p.E419V	ENST00000529750	NM_020716.1	419	gAg/gTg	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		15	1.76		HGNC	p.E419V		GRAMD1B		SNV							ENST00000529750	protein_coding	getma.org/?cm=var&var=hg19,11,123480530,A,T&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		E/V		T	low	1583/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=364&re=563&var=E419V	deleterious(0)				YES	GRAMD1B,missense_variant,p.Glu419Val,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Glu379Val,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Glu426Val,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Glu419Val,ENST00000322282,;GRAMD1B,missense_variant,p.Glu110Val,ENST00000450171,;GRAMD1B,missense_variant,p.Glu415Val,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;							MODERATE	1256/2217	E419V	GRM1B_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000436500		CCDS53720.1			1	
OR10G7	0	LGGM	GRCh37	11	123908844	123908844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	6	.	.	ENST00000330487.5:c.865C>A	p.Leu289Met	p.L289M	ENST00000330487	NM_001004463.1	289	Ctg/Atg	0	1	1	UPI0000040A84	0	NA	ENST00000330487		ENSG00000182634	14842		22	1.935		HGNC	p.L289M		OR10G7		SNV							ENST00000330487	protein_coding	getma.org/?cm=var&var=hg19,11,123908844,G,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/M		T	medium	874/945		getma.org/?cm=msa&ty=f&p=O10G7_HUMAN&rb=281&re=311&var=L289M	deleterious(0)				YES	OR10G7,missense_variant,p.Leu289Met,ENST00000330487,NM_001004463.1;							MODERATE	865/936	L289M	O10G7_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000329689		CCDS31705.1			1	
FLAD1	0	LGGM	GRCh37	1	154961202	154961202	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	6	.	.	ENST00000292180.3:c.994G>A	p.Glu332Lys	p.E332K	ENST00000292180	NM_025207.4	332	Gaa/Aaa	0	1	1	UPI00000735B2	0	NA	ENST00000292180		ENSG00000160688	24671		21	0.49		HGNC	p.E235K		FLAD1		SNV							ENST00000315144	protein_coding	getma.org/?cm=var&var=hg19,1,154961202,G,A&fts=all		PIRSF_domain:PIRSF036620,hmmpanther:PTHR23293,hmmpanther:PTHR23293:SF9		E/K		A	neutral	1316/2160		getma.org/?cm=msa&ty=f&p=FAD1_HUMAN&rb=278&re=397&var=E332K	tolerated(0.26)	Q5T196_HUMAN,Q5T190_HUMAN			YES	FLAD1,missense_variant,p.Glu332Lys,ENST00000368433,;FLAD1,missense_variant,p.Glu332Lys,ENST00000292180,NM_025207.4;FLAD1,missense_variant,p.Glu235Lys,ENST00000368432,NM_001184891.1;FLAD1,missense_variant,p.Glu233Lys,ENST00000368431,NM_001184892.1;FLAD1,missense_variant,p.Glu235Lys,ENST00000315144,NM_201398.2;FLAD1,missense_variant,p.Glu233Lys,ENST00000405236,;FLAD1,missense_variant,p.Glu65Lys,ENST00000295530,;FLAD1,5_prime_UTR_variant,,ENST00000368428,;LENEP,upstream_gene_variant,,ENST00000392487,;FLAD1,non_coding_transcript_exon_variant,,ENST00000489992,;FLAD1,downstream_gene_variant,,ENST00000487371,;FLAD1,downstream_gene_variant,,ENST00000492620,;FLAD1,upstream_gene_variant,,ENST00000477609,;FLAD1,upstream_gene_variant,,ENST00000481758,;LENEP,upstream_gene_variant,,ENST00000368427,NM_018655.2;							MODERATE	994/1764	E332K	FAD1_HUMAN			Transcript		benign(0.012)	.	ENSP00000292180		CCDS1078.1			1	
NRXN3	0	LGGM	GRCh37	14	79111657	79111657	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	6	.	.	ENST00000554719.1:c.-168G>T		*56*	ENST00000554719	NM_004796.5			0	1	1	UPI0000167BBA	0		ENST00000554719		ENSG00000021645	8010		30			HGNC	p.V316F		NRXN3		SNV							ENST00000554738	protein_coding							T		324/4156				G3V4R9_HUMAN,G3V247_HUMAN			YES	NRXN3,missense_variant,p.Val83Phe,ENST00000553363,;NRXN3,5_prime_UTR_variant,,ENST00000554719,NM_004796.5;NRXN3,5_prime_UTR_variant,,ENST00000335750,;NRXN3,intron_variant,,ENST00000553631,;NRXN3,missense_variant,p.Val316Phe,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556088,;							MODIFIER	-/3186		NRX3A_HUMAN			Transcript			.	ENSP00000451648		CCDS9870.1			1	
PCDHA13	0	LGGM	GRCh37	5	140263969	140263969	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	23	6	.	.	ENST00000289272.2:c.2116G>A	p.Ala706Thr	p.A706T	ENST00000289272	NM_018904.2	706	Gcg/Acg	0	1	1	UPI00001273D6	0	NA	ENST00000289272		ENSG00000239389	8667		29	3.12		HGNC	p.A706T		PCDHA13		SNV							ENST00000409494	protein_coding	getma.org/?cm=var&var=hg19,5,140263969,G,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,Low_complexity_(Seg):seg		A/T		A	medium	2116/5260		getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=671&re=798&var=A706T	deleterious_low_confidence(0.05)				YES	PCDHA13,missense_variant,p.Ala706Thr,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Ala706Thr,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;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;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,;							MODERATE	2116/2853	A706T	PCDAD_HUMAN			Transcript		benign(0.052)	.	ENSP00000289272		CCDS4240.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81591314	81591314	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	6	.	.	ENST00000356860.3:c.2862G>T	p.Thr954=	p.T954=	ENST00000356860	NM_000722.2	954	acG/acT	0	1		UPI0001B9E74B	0		ENST00000356253		ENSG00000153956	1399		21			HGNC	p.T966T		CACNA2D1		SNV			1				ENST00000356253	protein_coding			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6		T		A		3154/3858				Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.2;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,synonymous_variant,p.=,ENST00000535308,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000469297,;							LOW	2898/3312		CA2D1_HUMAN			Transcript			.	ENSP00000348589					1	
SLC4A3	0	LGGM	GRCh37	2	220497594	220497594	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	7	.	.	ENST00000373762.3:c.1223-2A>G		p.X408_splice	ENST00000373762	NM_005070.3			0	1		UPI000013D998	0		ENST00000317151		ENSG00000114923	11029		16			HGNC	-		SLC4A3		SNV							ENST00000358055	protein_coding							G		-/4069								SLC4A3,splice_acceptor_variant,,ENST00000358055,;SLC4A3,splice_acceptor_variant,,ENST00000373762,NM_005070.3;SLC4A3,splice_acceptor_variant,,ENST00000273063,NM_201574.2;SLC4A3,splice_acceptor_variant,,ENST00000373760,;SLC4A3,splice_acceptor_variant,,ENST00000317151,;SLC4A3,splice_acceptor_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,splice_acceptor_variant,,ENST00000425141,;SLC4A3,splice_acceptor_variant,,ENST00000416910,;SLC4A3,upstream_gene_variant,,ENST00000444906,;							HIGH	1142/3699		B3A3_HUMAN			Transcript			.	ENSP00000314006		CCDS2445.1			1	
ZNF628	0	LGGM	GRCh37	19	55993194	55993194	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	8	7	.	.	ENST00000598519.1:c.634A>G	p.Thr212Ala	p.T212A	ENST00000598519	NM_033113.2	212	Acc/Gcc	0	1	1	UPI00026B9C6E	0	getma.org/pdb.php?prot=ZN628_HUMAN&from=200&to=222&var=T208A	ENST00000598519		ENSG00000197483	28054		15	0.075		HGNC	p.T212A		ZNF628		SNV							ENST00000598519	protein_coding	getma.org/?cm=var&var=hg19,19,55993194,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF237,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/A		G	neutral	1187/3847		getma.org/?cm=msa&ty=f&p=ZN628_HUMAN&rb=180&re=242&var=T208A	tolerated(0.79)	K7EL41_HUMAN			YES	ZNF628,missense_variant,p.Thr208Ala,ENST00000391718,;ZNF628,missense_variant,p.Thr212Ala,ENST00000598519,NM_033113.2;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000592719,;							MODERATE	634/3180	T208A	ZN628_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000469591		CCDS33116.3			1	
DCTN1	0	LGGM	GRCh37	2	74593417	74593417	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	7	.	.	ENST00000361874.3:c.2714C>G	p.Thr905Arg	p.T905R	ENST00000361874	NM_004082.4	905	aCa/aGa	0	1	1	UPI0000129A25	0	NA	ENST00000361874		ENSG00000204843	2711		31	1.995		HGNC	p.T898R		DCTN1		SNV			1				ENST00000394003	protein_coding	getma.org/?cm=var&var=hg19,2,74593417,G,C&fts=all		hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916		T/R		C	medium	3032/4500		getma.org/?cm=msa&ty=f&p=DCTN1_HUMAN&rb=806&re=1005&var=T905R	deleterious(0)	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN			YES	DCTN1,missense_variant,p.Thr905Arg,ENST00000361874,NM_004082.4;DCTN1,missense_variant,p.Thr898Arg,ENST00000394003,NM_001190837.1;DCTN1,missense_variant,p.Thr868Arg,ENST00000409240,NM_001190836.1;DCTN1,missense_variant,p.Thr888Arg,ENST00000409868,;DCTN1,missense_variant,p.Thr771Arg,ENST00000407639,NM_023019.3;DCTN1,missense_variant,p.Thr771Arg,ENST00000409438,NM_001135041.2;DCTN1,missense_variant,p.Thr885Arg,ENST00000409567,NM_001135040.2;DCTN1,non_coding_transcript_exon_variant,,ENST00000495643,;DCTN1,intron_variant,,ENST00000497666,;DCTN1,downstream_gene_variant,,ENST00000463583,;DCTN1,3_prime_UTR_variant,,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;RP11-287D1.3,upstream_gene_variant,,ENST00000451608,;DCTN1,upstream_gene_variant,,ENST00000491465,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,upstream_gene_variant,,ENST00000492717,;							MODERATE	2714/3837	T905R	DCTN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354791		CCDS1939.1			1	
OR5B21	0	LGGM	GRCh37	11	58274982	58274982	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	13	7	.	.	ENST00000360374.2:c.597G>T	p.Val199=	p.V199=	ENST00000360374	NM_001005218.1	199	gtG/gtT	0	1	1	UPI000015FCAA	0		ENST00000360374		ENSG00000198283	19616		20			HGNC	p.V199V		OR5B21		SNV							ENST00000360374	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF288,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		A		597/931							YES	OR5B21,synonymous_variant,p.=,ENST00000360374,NM_001005218.1;RP11-655C2.3,upstream_gene_variant,,ENST00000531715,;RP11-655C2.3,upstream_gene_variant,,ENST00000528978,;RP11-655C2.3,upstream_gene_variant,,ENST00000527054,;							LOW	597/930		OR5BL_HUMAN			Transcript			.	ENSP00000353537		CCDS31552.1			1	
CSMD1	0	LGGM	GRCh37	8	3245166	3245166	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	17	7	.	.	ENST00000537824.1:c.2632A>G	p.Ile878Val	p.I878V	ENST00000537824	NM_033225.5	878	Atc/Gtc	0	1	1	UPI0001B723C6	0	getma.org/pdb.php?prot=CSMD1_HUMAN&from=874&to=927&var=I879V	ENST00000537824		ENSG00000183117	14026		24	0.04		HGNC	p.I879V		CSMD1		SNV							ENST00000400186	protein_coding	getma.org/?cm=var&var=hg19,8,3245166,T,C&fts=all		PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		I/V		C	neutral	2632/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=874&re=927&var=I879V		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Ile359Val,ENST00000335551,;CSMD1,missense_variant,p.Ile879Val,ENST00000520002,;CSMD1,missense_variant,p.Ile879Val,ENST00000602557,;CSMD1,missense_variant,p.Ile879Val,ENST00000400186,;CSMD1,missense_variant,p.Ile879Val,ENST00000602723,;CSMD1,missense_variant,p.Ile878Val,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Ile878Val,ENST00000542608,;CSMD1,missense_variant,p.Ile878Val,ENST00000539096,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;							MODERATE	2632/10695	I879V				Transcript		benign(0.201)	.	ENSP00000441462		CCDS55189.1			1	
WDR72	0	LGGM	GRCh37	15	54005038	54005038	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	7	.	.	ENST00000396328.1:c.642C>A	p.Asn214Lys	p.N214K	ENST00000396328	NM_182758.3	214	aaC/aaA	0	1		UPI00001D777D	0	NA	ENST00000360509		ENSG00000166415	26790		21	2.33		HGNC	p.N214K		WDR72		SNV			1				ENST00000360509	protein_coding	getma.org/?cm=var&var=hg19,15,54005038,G,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18,Superfamily_domains:SSF50978		N/K		T	medium	684/5887		getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=94&re=293&var=N214K	deleterious(0.01)	H0YN02_HUMAN				WDR72,missense_variant,p.Asn214Lys,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Asn213Lys,ENST00000557913,;WDR72,missense_variant,p.Asn214Lys,ENST00000360509,;WDR72,missense_variant,p.Asn214Lys,ENST00000559418,;WDR72,missense_variant,p.Asn214Lys,ENST00000560036,;							MODERATE	642/3309	N214K	WDR72_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000353699		CCDS10151.1			1	
SYNE1	0	LGGM	GRCh37	6	152784652	152784652	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	9	7	.	.	ENST00000367255.5:c.1933G>T	p.Asp645Tyr	p.D645Y	ENST00000367255	NM_182961.3	645	Gat/Tat	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		16	1.5		HGNC	p.D645Y		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152784652,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966		D/Y		A	low	2535/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=484&re=683&var=D645Y					YES	SYNE1,missense_variant,p.Asp645Tyr,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asp645Tyr,ENST00000265368,;SYNE1,missense_variant,p.Asp652Tyr,ENST00000448038,;SYNE1,missense_variant,p.Asp652Tyr,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Asp652Tyr,ENST00000341594,;SYNE1,missense_variant,p.Asp635Tyr,ENST00000367248,;SYNE1,missense_variant,p.Asp645Tyr,ENST00000367253,;SYNE1,missense_variant,p.Asp645Tyr,ENST00000413186,;SYNE1,missense_variant,p.Asp645Tyr,ENST00000466159,;SYNE1,missense_variant,p.Asp212Tyr,ENST00000495090,;SYNE1,downstream_gene_variant,,ENST00000537750,;SYNE1,splice_region_variant,,ENST00000535896,;SYNE1,splice_region_variant,,ENST00000481502,;SYNE1,splice_region_variant,,ENST00000498751,;SYNE1,splice_region_variant,,ENST00000461872,;SYNE1,splice_region_variant,,ENST00000474655,;SYNE1,downstream_gene_variant,,ENST00000468937,;							MODERATE	1933/26394	D645Y	SYNE1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000356224		CCDS5236.2			1	
SUCLA2	0	LGGM	GRCh37	13	48547519	48547519	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	10	7	.	.	ENST00000378654.3:c.543A>G	p.Val181=	p.V181=	ENST00000378654	NM_003850.2	181	gtA/gtG	0	1	1	UPI000013CFEB	0		ENST00000378654		ENSG00000136143	11448		17			HGNC	p.V123V		SUCLA2		SNV			1				ENST00000543413	protein_coding			Gene3D:3.30.470.20,HAMAP:MF_00558,Pfam_domain:PF08442,PIRSF_domain:PIRSF001554,PROSITE_profiles:PS50975,hmmpanther:PTHR11815,hmmpanther:PTHR11815:SF3,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01016		V		C		600/2164				E5KS60_HUMAN,Q9Y4T0_HUMAN,F5H5G8_HUMAN,F5GXC8_HUMAN			YES	SUCLA2,synonymous_variant,p.=,ENST00000378654,NM_003850.2;SUCLA2,synonymous_variant,p.=,ENST00000544100,;SUCLA2,synonymous_variant,p.=,ENST00000543413,;SUCLA2,synonymous_variant,p.=,ENST00000534875,;SUCLA2,synonymous_variant,p.=,ENST00000434484,;SUCLA2,synonymous_variant,p.=,ENST00000433022,;SUCLA2,non_coding_transcript_exon_variant,,ENST00000497202,;							LOW	543/1392		SUCB1_HUMAN			Transcript			.	ENSP00000367923		CCDS9406.1			1	
TTC21A	0	LGGM	GRCh37	3	39178533	39178533	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	12	7	.	.	ENST00000431162.2:c.3260A>C	p.Asn1087Thr	p.N1087T	ENST00000431162		1087	aAc/aCc	0	1	1	UPI00015D46B9	0	NA	ENST00000431162		ENSG00000168026	30761		19	1.82		HGNC	p.N1087T		TTC21A		SNV							ENST00000431162	protein_coding	getma.org/?cm=var&var=hg19,3,39178533,A,C&fts=all		hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2		N/T		C	low	3394/4209		getma.org/?cm=msa&ty=f&p=TT21A_HUMAN&rb=991&re=1190&var=N1087T	deleterious(0.05)				YES	TTC21A,missense_variant,p.Asn1088Thr,ENST00000301819,NM_145755.2;TTC21A,missense_variant,p.Asn1087Thr,ENST00000431162,;TTC21A,missense_variant,p.Asn1039Thr,ENST00000440121,NM_001105513.2;CSRNP1,downstream_gene_variant,,ENST00000273153,NM_033027.3;TTC21A,non_coding_transcript_exon_variant,,ENST00000493856,;TTC21A,non_coding_transcript_exon_variant,,ENST00000472866,;TTC21A,non_coding_transcript_exon_variant,,ENST00000490245,;TTC21A,downstream_gene_variant,,ENST00000481734,;TTC21A,downstream_gene_variant,,ENST00000465962,;TTC21A,missense_variant,p.Asn1080Thr,ENST00000430597,;TTC21A,downstream_gene_variant,,ENST00000473587,;TTC21A,upstream_gene_variant,,ENST00000460460,;							MODERATE	3260/3963	N1087T	TT21A_HUMAN			Transcript		benign(0.015)	.	ENSP00000398211		CCDS46800.1			1	
CCDC80	0	LGGM	GRCh37	3	112358549	112358549	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	30	8	.	.	ENST00000206423.3:c.204A>G	p.Glu68=	p.E68=	ENST00000206423	NM_199512.1	68	gaA/gaG	0	1	1	UPI000004EE7F	0		ENST00000206423		ENSG00000091986	30649		38			HGNC	p.E68E		CCDC80		SNV							ENST00000444594	protein_coding					E		C		1158/4664							YES	CCDC80,synonymous_variant,p.=,ENST00000206423,NM_199512.1,NM_199511.1;CCDC80,synonymous_variant,p.=,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,non_coding_transcript_exon_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000480275,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000473959,;							LOW	204/2853		CCD80_HUMAN			Transcript			.	ENSP00000206423		CCDS2968.1			1	
ASIC1	0	LGGM	GRCh37	12	50471006	50471006	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	26	8	.	.	ENST00000228468.4:c.569G>T	p.Arg190Leu	p.R190L	ENST00000228468	NM_020039.3	190	cGc/cTc	0	1		UPI000016199C	0	getma.org/pdb.php?prot=ASIC1_HUMAN&from=1&to=200&var=R190L	ENST00000447966		ENSG00000110881	100		34	2.57		HGNC	p.R190L		ASIC1		SNV							ENST00000228468	protein_coding	getma.org/?cm=var&var=hg19,12,50471006,G,T&fts=all		Prints_domain:PR01078,Pfam_domain:PF00858,Gene3D:2qtsA02,TIGRFAM_domain:TIGR00859,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF110		R/L		T	medium	798/3778		getma.org/?cm=msa&ty=f&p=ASIC1_HUMAN&rb=1&re=200&var=R190L	deleterious(0)					ASIC1,missense_variant,p.Arg190Leu,ENST00000228468,NM_020039.3;ASIC1,missense_variant,p.Arg190Leu,ENST00000447966,NM_001095.3;ASIC1,missense_variant,p.Arg224Leu,ENST00000552438,NM_001256830.1;ASIC1,missense_variant,p.Arg58Leu,ENST00000453327,;ASIC1,upstream_gene_variant,,ENST00000552633,;ASIC1,synonymous_variant,p.=,ENST00000550558,;ASIC1,non_coding_transcript_exon_variant,,ENST00000551199,;ASIC1,non_coding_transcript_exon_variant,,ENST00000549792,;ASIC1,upstream_gene_variant,,ENST00000548350,;							MODERATE	569/1587	R190L	ASIC1_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000400228		CCDS44876.1			1	
TAAR2	0	LGGM	GRCh37	6	132938974	132938974	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	27	8	.	.	ENST00000367931.1:c.371T>A	p.Leu124Gln	p.L124Q	ENST00000367931		124	cTg/cAg	0	1	1	UPI000048F3E6	0	getma.org/pdb.php?prot=TAAR2_HUMAN&from=60&to=315&var=L124Q	ENST00000367931		ENSG00000146378	4514		35	1.35		HGNC	p.L79Q		TAAR2		SNV							ENST00000537809	protein_coding	getma.org/?cm=var&var=hg19,6,132938974,A,T&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24249:SF30,hmmpanther:PTHR24249,PROSITE_profiles:PS50262		L/Q		T	low	371/1056		getma.org/?cm=msa&ty=f&p=TAAR2_HUMAN&rb=60&re=315&var=L124Q	deleterious(0)				YES	TAAR2,missense_variant,p.Leu79Gln,ENST00000275191,NM_014626.3;TAAR2,missense_variant,p.Leu79Gln,ENST00000537809,NM_001033080.1;TAAR2,missense_variant,p.Leu124Gln,ENST00000367931,;							MODERATE	371/1056	L124Q	TAAR2_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000356908		CCDS34541.1			1	
UEVLD	0	LGGM	GRCh37	11	18600273	18600273	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	32	8	.	.	ENST00000396197.3:c.125A>G	p.Tyr42Cys	p.Y42C	ENST00000396197	NM_001040697.2	42	tAt/tGt	0	1	1	UPI00001AF2D2	0	getma.org/pdb.php?prot=UEVLD_HUMAN&from=21&to=141&var=Y42C	ENST00000396197		ENSG00000151116	30866		40	3.005		HGNC	p.Y42C		UEVLD		SNV							ENST00000300038	protein_coding	getma.org/?cm=var&var=hg19,11,18600273,T,C&fts=all		PROSITE_profiles:PS51322,hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF18,Pfam_domain:PF05743,Gene3D:3.10.110.10,Superfamily_domains:SSF54495		Y/C		C	medium	154/4156		getma.org/?cm=msa&ty=f&p=UEVLD_HUMAN&rb=21&re=141&var=Y42C	deleterious(0)	B4DWH4_HUMAN,B4DIA9_HUMAN			YES	UEVLD,missense_variant,p.Tyr42Cys,ENST00000396197,NM_001040697.2,NM_001261384.1;UEVLD,missense_variant,p.Tyr42Cys,ENST00000543987,NM_018314.4;UEVLD,missense_variant,p.Tyr4Cys,ENST00000535484,NM_001261385.1;UEVLD,missense_variant,p.Tyr42Cys,ENST00000379387,NM_001261382.1;UEVLD,missense_variant,p.Tyr42Cys,ENST00000320750,NM_001261383.1;UEVLD,missense_variant,p.Tyr42Cys,ENST00000300038,;UEVLD,missense_variant,p.Tyr42Cys,ENST00000541984,NM_001261386.1;UEVLD,splice_region_variant,,ENST00000490736,;UEVLD,intron_variant,,ENST00000540666,;UEVLD,intron_variant,,ENST00000540917,;UEVLD,missense_variant,p.Tyr42Cys,ENST00000396196,;UEVLD,splice_region_variant,,ENST00000535340,;							MODERATE	125/1416	Y42C	UEVLD_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000379500		CCDS41624.1			1	
CAMSAP1	0	LGGM	GRCh37	9	138742012	138742012	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	8	.	.	ENST00000389532.4:c.1016A>T	p.Gln339Leu	p.Q339L	ENST00000389532	NM_015447.3	339	cAg/cTg	0	1	1	UPI0000EDA283	0	NA	ENST00000389532		ENSG00000130559	19946		32	2.56		HGNC	p.Q350L		CAMSAP1		SNV							ENST00000409386	protein_coding	getma.org/?cm=var&var=hg19,9,138742012,T,A&fts=all		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3,Superfamily_domains:SSF47576		Q/L		A	medium	1081/7696		getma.org/?cm=msa&ty=f&p=CAMP1_HUMAN&rb=313&re=512&var=Q339L	deleterious(0)				YES	CAMSAP1,missense_variant,p.Gln339Leu,ENST00000389532,NM_015447.3;CAMSAP1,missense_variant,p.Gln61Leu,ENST00000312405,;CAMSAP1,missense_variant,p.Gln350Leu,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000492174,;							MODERATE	1016/4809	Q339L	CAMP1_HUMAN			Transcript		possibly_damaging(0.735)	.	ENSP00000374183		CCDS35176.2			1	
DPP3	0	LGGM	GRCh37	11	66259023	66259023	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	17	8	.	.	ENST00000360510.2:c.857C>G	p.Thr286Ser	p.T286S	ENST00000360510		286	aCc/aGc	0	1		UPI000012983B	0	getma.org/pdb.php?prot=DPP3_HUMAN&from=141&to=705&var=T286S	ENST00000541961		ENSG00000254986	3008		25	1.785		HGNC	p.T286S		DPP3		SNV							ENST00000453114	protein_coding	getma.org/?cm=var&var=hg19,11,66259023,C,G&fts=all		hmmpanther:PTHR23422:SF10,hmmpanther:PTHR23422,Pfam_domain:PF03571,PIRSF_domain:PIRSF007828		T/S		G	low	913/2676		getma.org/?cm=msa&ty=f&p=DPP3_HUMAN&rb=141&re=705&var=T286S	tolerated(0.53)	E9PQF2_HUMAN,E9PQ14_HUMAN,E9PPK9_HUMAN,E9PNX5_HUMAN				DPP3,missense_variant,p.Thr305Ser,ENST00000532677,NM_130443.3,NM_005700.4,NM_001256670.1;DPP3,missense_variant,p.Thr306Ser,ENST00000531863,;DPP3,missense_variant,p.Thr286Ser,ENST00000360510,;DPP3,missense_variant,p.Thr286Ser,ENST00000453114,;DPP3,missense_variant,p.Thr286Ser,ENST00000541961,;DPP3,missense_variant,p.Thr256Ser,ENST00000530165,;DPP3,downstream_gene_variant,,ENST00000531354,;DPP3,downstream_gene_variant,,ENST00000533725,;DPP3,downstream_gene_variant,,ENST00000532019,;DPP3,downstream_gene_variant,,ENST00000526515,;DPP3,upstream_gene_variant,,ENST00000533799,;DPP3,downstream_gene_variant,,ENST00000531272,;DPP3,downstream_gene_variant,,ENST00000544603,;DPP3,upstream_gene_variant,,ENST00000525738,;DPP3,upstream_gene_variant,,ENST00000526667,;DPP3,upstream_gene_variant,,ENST00000526250,;							MODERATE	857/2214	T286S	DPP3_HUMAN			Transcript		benign(0.004)	.	ENSP00000440502		CCDS8141.1			1	
CCDC144NL	0	LGGM	GRCh37	17	20799143	20799143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	29	8	.	.	ENST00000327925.5:c.191A>G	p.His64Arg	p.H64R	ENST00000327925	NM_001004306.1	64	cAc/cGc	0	1	1	UPI00001D7A84	0	NA	ENST00000327925		ENSG00000205212	33735		37	0.805		HGNC	p.H64R		CCDC144NL		SNV							ENST00000327925	protein_coding	getma.org/?cm=var&var=hg19,17,20799143,T,C&fts=all		hmmpanther:PTHR22245,hmmpanther:PTHR22245:SF1		H/R		C	low	311/2806		getma.org/?cm=msa&ty=f&p=C144L_HUMAN&rb=1&re=139&var=H64R	tolerated_low_confidence(0.07)				YES	CCDC144NL,missense_variant,p.His64Arg,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,;							MODERATE	191/666	H64R	C144L_HUMAN			Transcript		benign(0.234)	.	ENSP00000328054		CCDS32591.1			1	
FBXL3	0	LGGM	GRCh37	13	77581660	77581660	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	8	8	.	.	ENST00000355619.5:c.907T>C	p.Phe303Leu	p.F303L	ENST00000355619	NM_012158.2	303	Ttc/Ctc	0	1	1	UPI0000035C8B	0	NA	ENST00000355619		ENSG00000005812	13599		16	1.395		HGNC	p.F303L		FBXL3		SNV							ENST00000355619	protein_coding	getma.org/?cm=var&var=hg19,13,77581660,A,G&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF274		F/L		G	low	1232/3503		getma.org/?cm=msa&ty=f&p=FBXL3_HUMAN&rb=282&re=428&var=F303L	tolerated(0.35)				YES	FBXL3,missense_variant,p.Phe303Leu,ENST00000355619,NM_012158.2;FBXL3,downstream_gene_variant,,ENST00000417323,;FBXL3,intron_variant,,ENST00000477982,;FBXL3,intron_variant,,ENST00000485797,;							MODERATE	907/1287	F303L	FBXL3_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000347834		CCDS9457.1			1	
SYCP2	0	LGGM	GRCh37	20	58441367	58441367	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	28	8	.	.	ENST00000357552.3:c.4301A>T	p.Asp1434Val	p.D1434V	ENST00000357552		1434	gAt/gTt	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		36	1.87		HGNC	p.D1434V		SYCP2		SNV							ENST00000357552	protein_coding	getma.org/?cm=var&var=hg19,20,58441367,T,A&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		D/V		A	low	4527/5567		getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=401&re=1529&var=D1434V	tolerated(0.08)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Asp1434Val,ENST00000357552,;SYCP2,missense_variant,p.Asp1434Val,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Asp120Val,ENST00000412613,;							MODERATE	4301/4593	D1434V	SYCP2_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000350162		CCDS13482.1			1	
CDK15	0	LGGM	GRCh37	2	202698694	202698694	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	8	.	.	ENST00000450471.2:c.730G>T	p.Gly244Cys	p.G244C	ENST00000450471	NM_001261435.1	244	Ggt/Tgt	0	1	1	UPI0001D3BDAF	0	getma.org/pdb.php?prot=CDK15_HUMAN&from=103&to=387&var=G244C	ENST00000450471		ENSG00000138395	14434		32	4.105		HGNC	p.G244C		CDK15		SNV							ENST00000450471	protein_coding	getma.org/?cm=var&var=hg19,2,202698694,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF159,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/C		T	high	816/3659		getma.org/?cm=msa&ty=f&p=CDK15_HUMAN&rb=103&re=387&var=G244C	deleterious(0)				YES	CDK15,missense_variant,p.Gly244Cys,ENST00000450471,NM_001261435.1;CDK15,missense_variant,p.Gly244Cys,ENST00000434439,NM_001261436.1;CDK15,missense_variant,p.Gly193Cys,ENST00000410091,;CDK15,missense_variant,p.Gly193Cys,ENST00000260967,NM_139158.2;CDK15,missense_variant,p.Gly244Cys,ENST00000374598,;CDK15,splice_region_variant,,ENST00000488419,;CDK15,splice_region_variant,,ENST00000451080,;							MODERATE	730/1290	G244C	CDK15_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000406472		CCDS58747.1			1	
ZNF814	0	LGGM	GRCh37	19	58385562	58385562	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	96	8	.	.	ENST00000435989.2:c.1196A>G	p.Gln399Arg	p.Q399R	ENST00000435989	NM_001144989.1	399	cAg/cGg	0	1	1	UPI0001662BAD	0	getma.org/pdb.php?prot=ZN814_HUMAN&from=394&to=419&var=Q399R	ENST00000435989		ENSG00000204514	33258		104	0.235		HGNC	p.Q399R		ZNF814		SNV							ENST00000435989	protein_coding	getma.org/?cm=var&var=hg19,19,58385562,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF3,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/R		C	neutral	1431/3146		getma.org/?cm=msa&ty=f&p=ZN814_HUMAN&rb=374&re=439&var=Q399R	tolerated(0.29)				YES	ZNF814,missense_variant,p.Gln399Arg,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;							MODERATE	1196/2568	Q399R	ZN814_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000410545		CCDS46212.1			1	
TP53	0	LGGM	GRCh37	17	7578463	7578463	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	3	8	.	.	ENST00000269305.4:c.467G>C	p.Arg156Pro	p.R156P	ENST00000269305	NM_001126112.2	156	cGc/cCc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R156P	ENST00000269305		ENSG00000141510	11998		11	2.24		HGNC	p.R156P	TP53_g.12455G>C,COSM10760,COSM1522489,COSM1522490,COSM1522492,COSM3712457,COSM2744905,COSM1522491	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578463,C,G&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/P		G	medium	657/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R156P	tolerated(0.22)	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			YES	TP53,missense_variant,p.Arg156Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg156Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg156Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg156Pro,ENST00000445888,;TP53,missense_variant,p.Arg156Pro,ENST00000359597,;TP53,missense_variant,p.Arg156Pro,ENST00000413465,;TP53,missense_variant,p.Arg24Pro,ENST00000509690,;TP53,missense_variant,p.Arg156Pro,ENST00000508793,;TP53,missense_variant,p.Arg63Pro,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,;					0,1,1,1,1,1,1,1		MODERATE	467/1182	R156P	P53_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000269305		CCDS11118.1			1	
FOXG1	0	LGGM	GRCh37	14	29237639	29237639	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	9	.	.	ENST00000382535.3:c.1154C>A	p.Ala385Asp	p.A385D	ENST00000382535		385	gCc/gAc	0	1		UPI00001AE46C	0	NA	ENST00000313071		ENSG00000176165	3811		25	0.695		HGNC	p.A385D		FOXG1		SNV			1				ENST00000382535	protein_coding	getma.org/?cm=var&var=hg19,14,29237639,C,A&fts=all		hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF8,Low_complexity_(Seg):seg		A/D		A	neutral	1353/2584		getma.org/?cm=msa&ty=f&p=FOXG1_HUMAN&rb=287&re=487&var=A385D	deleterious(0)					FOXG1,missense_variant,p.Ala385Asp,ENST00000382535,;FOXG1,missense_variant,p.Ala385Asp,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,;							MODERATE	1154/1470	A385D	FOXG1_HUMAN			Transcript		possibly_damaging(0.731)	.	ENSP00000339004		CCDS9636.1			1	
SRCAP	0	LGGM	GRCh37	16	30749528	30749528	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	9	.	.	ENST00000262518.4:c.8167C>T	p.Arg2723Cys	p.R2723C	ENST00000262518	NM_006662.2	2723	Cgc/Tgc	0	1	1	UPI000059D368	0	NA	ENST00000262518		ENSG00000080603	16974		28	0		HGNC	p.R2546C		SRCAP		SNV			1				ENST00000380361	protein_coding	getma.org/?cm=var&var=hg19,16,30749528,C,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg		R/C		T	neutral	8552/10474		getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=2331&re=3229&var=R2723C		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,missense_variant,p.Arg2723Cys,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Arg2661Cys,ENST00000395059,;SRCAP,missense_variant,p.Arg2565Cys,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Arg2546Cys,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;							MODERATE	8167/9693	R2723C	SRCAP_HUMAN			Transcript		unknown(0)	.	ENSP00000262518		CCDS10689.2			1	
SLC5A4	0	LGGM	GRCh37	22	32620270	32620270	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	12	9	.	.	ENST00000266086.4:c.1649C>T	p.Pro550Leu	p.P550L	ENST00000266086	NM_014227.2	550	cCc/cTc	0	1	1	UPI00001359F4	0	NA	ENST00000266086		ENSG00000100191	11039		21	3.06		HGNC	p.P550L		SLC5A4		SNV							ENST00000266086	protein_coding	getma.org/?cm=var&var=hg19,22,32620270,G,A&fts=all		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF112		P/L		A	medium	1661/2028		getma.org/?cm=msa&ty=f&p=SC5A4_HUMAN&rb=493&re=659&var=P550L	deleterious(0.01)	C7EWH7_HUMAN			YES	SLC5A4,missense_variant,p.Pro550Leu,ENST00000266086,NM_014227.2;RP1-90G24.10,intron_variant,,ENST00000434942,;							MODERATE	1649/1980	P550L	SC5A4_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000266086		CCDS13903.1			1	
IGFBP3	0	LGGM	GRCh37	7	45954419	45954419	+	stop_lost	Nonstop_Mutation	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	13	9	.	.	ENST00000381083.4:c.894G>C	p.Ter298TyrextTer?	p.*298Yext*?	ENST00000381083		298	taG/taC	0	1		UPI000013DA64	0		ENST00000275521		ENSG00000146674	5472		22			HGNC	p.X292Y		IGFBP3		SNV							ENST00000275521	protein_coding					*/Y		G		1010/2262				B3KPF0_HUMAN,B4DN53_HUMAN				IGFBP3,stop_lost,p.Ter292TyrextTer40,ENST00000275521,NM_001013398.1,NM_000598.4;IGFBP3,stop_lost,p.Ter195TyrextTer40,ENST00000381086,;IGFBP3,stop_lost,p.Ter298TyrextTer?,ENST00000381083,;IGFBP3,stop_lost,p.Ter144TyrextTer11,ENST00000428530,;IGFBP3,stop_lost,p.Ter154TyrextTer115,ENST00000417621,;IGFBP3,downstream_gene_variant,,ENST00000448817,;IGFBP3,downstream_gene_variant,,ENST00000465642,;IGFBP3,non_coding_transcript_exon_variant,,ENST00000460209,;IGFBP3,downstream_gene_variant,,ENST00000460477,;							HIGH	876/876		IBP3_HUMAN			Transcript			.	ENSP00000275521		CCDS5505.1			1	
RUNDC1	0	LGGM	GRCh37	17	41143479	41143479	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	26	9	.	.	ENST00000361677.1:c.1588T>G	p.Phe530Val	p.F530V	ENST00000361677	NM_173079.2	530	Ttt/Gtt	0	1	1	UPI00001AED0E	0	NA	ENST00000361677		ENSG00000198863	25418		35	0.895		HGNC	p.F530V		RUNDC1		SNV							ENST00000361677	protein_coding	getma.org/?cm=var&var=hg19,17,41143479,T,G&fts=all		Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826		F/V		G	low	1600/3828		getma.org/?cm=msa&ty=f&p=RUND1_HUMAN&rb=429&re=601&var=F530V	deleterious(0.01)				YES	RUNDC1,missense_variant,p.Phe530Val,ENST00000361677,NM_173079.2;RUNDC1,downstream_gene_variant,,ENST00000589705,;							MODERATE	1588/1842	F530V	RUND1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000354622		CCDS11448.1			1	
ZNF610	0	LGGM	GRCh37	19	52857553	52857553	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	25	10	.	.	ENST00000403906.3:c.240A>T	p.Arg80Ser	p.R80S	ENST00000403906	NM_001161425.1	80	agA/agT	0	1		UPI0000140AF2	0	NA	ENST00000321287		ENSG00000167554	26687		35	0.45		HGNC	p.R80S		ZNF610		SNV							ENST00000403906	protein_coding	getma.org/?cm=var&var=hg19,19,52857553,A,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF197,SMART_domains:SM00349		R/S		T	neutral	646/2150		getma.org/?cm=msa&ty=f&p=ZN610_HUMAN&rb=24&re=95&var=R80S	tolerated(0.34)	M0QYM6_HUMAN				ZNF610,missense_variant,p.Arg80Ser,ENST00000403906,NM_001161425.1;ZNF610,missense_variant,p.Arg80Ser,ENST00000321287,NM_001161426.1;ZNF610,missense_variant,p.Arg80Ser,ENST00000327920,NM_173530.2;ZNF610,missense_variant,p.Arg80Ser,ENST00000593698,;ZNF610,intron_variant,,ENST00000601151,NM_001161427.1;							MODERATE	240/1389	R80S	ZN610_HUMAN			Transcript		benign(0.003)	.	ENSP00000324441		CCDS12851.1			1	
RAD52	0	LGGM	GRCh37	12	1023125	1023125	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	10	.	.	ENST00000358495.3:c.1130A>G	p.Gln377Arg	p.Q377R	ENST00000358495	NM_134424.2	377	cAg/cGg	0	1	1	UPI0000133035	0	NA	ENST00000358495		ENSG00000002016	9824		24	2.175		HGNC	p.Q300R		RAD52		SNV							ENST00000539046	protein_coding	getma.org/?cm=var&var=hg19,12,1023125,T,C&fts=all		hmmpanther:PTHR12132,hmmpanther:PTHR12132:SF1		Q/R		C	medium	1269/2710		getma.org/?cm=msa&ty=f&p=RAD52_HUMAN&rb=185&re=384&var=Q377R	tolerated(0.18)	Q9UHE1_HUMAN,Q5DR82_HUMAN,Q3MI84_HUMAN,F5H3Q1_HUMAN,F5GX95_HUMAN,D3DUP4_HUMAN			YES	RAD52,missense_variant,p.Gln377Arg,ENST00000358495,NM_134424.2;RAD52,missense_variant,p.Gln377Arg,ENST00000430095,;RAD52,missense_variant,p.Gln300Arg,ENST00000539046,;WNK1,downstream_gene_variant,,ENST00000537687,NM_001184985.1,NM_213655.4;WNK1,downstream_gene_variant,,ENST00000315939,NM_018979.3;WNK1,downstream_gene_variant,,ENST00000535572,NM_014823.2;WNK1,downstream_gene_variant,,ENST00000340908,;RAD52,downstream_gene_variant,,ENST00000536177,;RAD52,non_coding_transcript_exon_variant,,ENST00000535376,;RAD52,non_coding_transcript_exon_variant,,ENST00000542297,;RAD52,downstream_gene_variant,,ENST00000542584,;RAD52,3_prime_UTR_variant,,ENST00000468231,;RAD52,3_prime_UTR_variant,,ENST00000461568,;RAD52,3_prime_UTR_variant,,ENST00000543912,;RAD52,non_coding_transcript_exon_variant,,ENST00000228345,;RAD52,non_coding_transcript_exon_variant,,ENST00000481052,;RAD52,non_coding_transcript_exon_variant,,ENST00000488642,;RAD52,non_coding_transcript_exon_variant,,ENST00000463750,;WNK1,downstream_gene_variant,,ENST00000540885,;							MODERATE	1130/1257	Q377R	RAD52_HUMAN			Transcript		benign(0.019)	.	ENSP00000351284		CCDS8507.2			1	
FCRL3	0	LGGM	GRCh37	1	157660296	157660296	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	10	.	.	ENST00000368184.3:c.1439T>A	p.Leu480His	p.L480H	ENST00000368184	NM_052939.3	480	cTc/cAc	0	1	1	UPI000006D60E	0	NA	ENST00000368184		ENSG00000160856	18506		29	3.09		HGNC	p.L480H		FCRL3		SNV			1				ENST00000485028	protein_coding	getma.org/?cm=var&var=hg19,1,157660296,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF35,Superfamily_domains:SSF48726		L/H		T	medium	1731/4725		getma.org/?cm=msa&ty=f&p=FCRL3_HUMAN&rb=475&re=548&var=L480H	deleterious(0.02)	R4GNJ6_HUMAN			YES	FCRL3,missense_variant,p.Leu480His,ENST00000368184,NM_052939.3;FCRL3,missense_variant,p.Leu480His,ENST00000368186,;RP11-367J7.3,upstream_gene_variant,,ENST00000453692,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,upstream_gene_variant,,ENST00000468507,;FCRL3,missense_variant,p.Leu486His,ENST00000492769,;FCRL3,missense_variant,p.Leu480His,ENST00000485028,;FCRL3,missense_variant,p.Leu385His,ENST00000477837,;							MODERATE	1439/2205	L480H	FCRL3_HUMAN			Transcript		benign(0.089)	.	ENSP00000357167		CCDS1167.1			1	
NHLRC1	0	LGGM	GRCh37	6	18122081	18122081	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	18	10	.	.	ENST00000340650.3:c.757A>C	p.Arg253=	p.R253=	ENST00000340650	NM_198586.2	253	Aga/Cga	0	1	1	UPI0000198CE1	0		ENST00000340650		ENSG00000187566	21576		28			HGNC	p.R253R		NHLRC1		SNV			1				ENST00000340650	protein_coding			PROSITE_profiles:PS51125,hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898		R		G		771/2134							YES	NHLRC1,synonymous_variant,p.=,ENST00000340650,NM_198586.2;							LOW	757/1188		NHLC1_HUMAN			Transcript			.	ENSP00000345464		CCDS4542.1			1	
CDC42BPG	0	LGGM	GRCh37	11	64594641	64594641	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	11	.	.	ENST00000342711.5:c.4272-2A>T		p.X1424_splice	ENST00000342711	NM_017525.2			0	1	1	UPI000047C9E2	0		ENST00000342711		ENSG00000171219	29829		27			HGNC	-		CDC42BPG		SNV							ENST00000342711	protein_coding							A		-/5742							YES	CDC42BPG,splice_acceptor_variant,,ENST00000342711,NM_017525.2;CDC42BPG,downstream_gene_variant,,ENST00000491280,;							HIGH	4272/4656		MRCKG_HUMAN			Transcript			.	ENSP00000345133		CCDS31601.1			1	
CTCFL	0	LGGM	GRCh37	20	56098876	56098876	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	11	.	.	ENST00000423479.3:c.386G>A	p.Ser129Asn	p.S129N	ENST00000423479	NM_001269043.1	129	aGc/aAc	0	1		UPI000013CB45	0	NA	ENST00000243914		ENSG00000124092	16234		30	1.5		HGNC	p.S129N		CTCFL		SNV							ENST00000429804	protein_coding	getma.org/?cm=var&var=hg19,20,56098876,C,T&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF96		S/N		T	low	579/3567		getma.org/?cm=msa&ty=f&p=CTCFL_HUMAN&rb=1&re=200&var=S129N	tolerated(0.2)					CTCFL,missense_variant,p.Ser129Asn,ENST00000608263,NM_001269041.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000429804,NM_001269046.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000609232,NM_080618.3;CTCFL,missense_variant,p.Ser129Asn,ENST00000243914,;CTCFL,missense_variant,p.Ser129Asn,ENST00000371196,NM_001269042.1,NM_001269040.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000422869,NM_001269047.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000432255,NM_001269048.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000608425,NM_001269045.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000608440,NM_001269044.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000423479,NM_001269043.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000608158,NM_001269052.1;CTCFL,missense_variant,p.Ser129Asn,ENST00000481655,NM_001269051.1;CTCFL,intron_variant,,ENST00000539382,NM_001269050.1;CTCFL,intron_variant,,ENST00000433949,NM_001269049.1;CTCFL,intron_variant,,ENST00000608903,NM_001269055.1;CTCFL,intron_variant,,ENST00000502686,NM_001269054.1;CTCFL,intron_variant,,ENST00000608858,;CTCFL,missense_variant,p.Ser129Asn,ENST00000426658,;CTCFL,missense_variant,p.Ser129Asn,ENST00000422109,;CTCFL,missense_variant,p.Ser129Asn,ENST00000608720,;CTCFL,non_coding_transcript_exon_variant,,ENST00000607923,;CTCFL,intron_variant,,ENST00000608108,;							MODERATE	386/1992	S129N	CTCFL_HUMAN			Transcript		benign(0.272)	.	ENSP00000243914		CCDS13459.1			1	
BSPRY	0	LGGM	GRCh37	9	116132071	116132071	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	18	11	.	.	ENST00000374183.4:c.858T>C	p.His286=	p.H286=	ENST00000374183	NM_017688.2	286	caT/caC	0	1	1	UPI000013CA39	0		ENST00000374183		ENSG00000119411	18232		29			HGNC	p.H286H		BSPRY		SNV							ENST00000374183	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF242,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407		H		C		897/2339							YES	BSPRY,synonymous_variant,p.=,ENST00000374183,NM_017688.2;HDHD3,downstream_gene_variant,,ENST00000238379,NM_031219.2;HDHD3,downstream_gene_variant,,ENST00000374180,;BSPRY,non_coding_transcript_exon_variant,,ENST00000462085,;HDHD3,downstream_gene_variant,,ENST00000485934,;							LOW	858/1209		BSPRY_HUMAN			Transcript			.	ENSP00000363298		CCDS43868.1			1	
OR13D1	0	LGGM	GRCh37	9	107457163	107457163	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	70	11	.	.	ENST00000318763.5:c.461A>G	p.His154Arg	p.H154R	ENST00000318763	NM_001004484.1	154	cAc/cGc	0	1	1	UPI0000061E68	0	getma.org/pdb.php?prot=O13D1_HUMAN&from=1&to=170&var=H154R	ENST00000318763		ENSG00000179055	14695		81	-3.185		HGNC	p.H154R	rs763717160,COSM1459090	OR13D1	6.06E-05	SNV				0.000288		0,1	ENST00000318763	protein_coding	getma.org/?cm=var&var=hg19,9,107457163,A,G&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF129,Superfamily_domains:SSF81321		H/R		G	neutral	504/1107		getma.org/?cm=msa&ty=f&p=O13D1_HUMAN&rb=1&re=170&var=H154R	tolerated(1)				YES	OR13D1,missense_variant,p.His154Arg,ENST00000318763,NM_001004484.1;					0,1		MODERATE	461/1041	H154R	O13D1_HUMAN			Transcript		benign(0)	.	ENSP00000317357	3.29E-05	CCDS35094.1			1	
PHACTR4	0	LGGM	GRCh37	1	28793037	28793039	+	inframe_deletion	In_Frame_Del	DEL	GCA	GCA	-	novel	by Submitter	H060638	H060638N.bam	GCA	GCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	11	.	.	ENST00000373836.3:c.611_613del	p.Gly204_Thr205delinsAla	p.G204_T205delinsA	ENST00000373836	NM_023923.3	204	gGCAcg/gcg	0	1		UPI000007419C	0		ENST00000373839		ENSG00000204138	25793		25			HGNC	p.204_205del		PHACTR4		deletion							ENST00000373836	protein_coding			hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF4		GT/A		-		842-844/6190								PHACTR4,inframe_deletion,p.Gly194_Thr195delinsAla,ENST00000373839,NM_001048183.1;PHACTR4,inframe_deletion,p.Gly204_Thr205delinsAla,ENST00000373836,NM_023923.3;PHACTR4,non_coding_transcript_exon_variant,,ENST00000493669,;PHACTR4,non_coding_transcript_exon_variant,,ENST00000463428,;							MODERATE	581-583/2109		PHAR4_HUMAN			Transcript			.	ENSP00000362945		CCDS41293.1			1	
BEND6	0	LGGM	GRCh37	6	56880069	56880069	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	27	11	.	.	ENST00000370746.3:c.437C>T	p.Ser146Leu	p.S146L	ENST00000370746	NM_152731.2	146	tCa/tTa	0	1	1	UPI000020DF34	0	NA	ENST00000370746		ENSG00000151917	20871		38	0.55		HGNC	p.S146L		BEND6		SNV							ENST00000495359	protein_coding	getma.org/?cm=var&var=hg19,6,56880069,C,T&fts=all				S/L		T	neutral	706/2379		getma.org/?cm=msa&ty=f&p=BEND6_HUMAN&rb=1&re=189&var=S146L	tolerated_low_confidence(0.06)	B7Z9G1_HUMAN,B7Z8N8_HUMAN			YES	BEND6,missense_variant,p.Ser146Leu,ENST00000370746,NM_152731.2;BEND6,missense_variant,p.Ser48Leu,ENST00000545789,;BEND6,3_prime_UTR_variant,,ENST00000370750,;BEND6,downstream_gene_variant,,ENST00000370748,;BEND6,downstream_gene_variant,,ENST00000370745,;BEND6,non_coding_transcript_exon_variant,,ENST00000484701,;							MODERATE	437/840	S146L	BEND6_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000359782		CCDS43476.1			1	
EIF3H	0	LGGM	GRCh37	8	117669485	117669485	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	11	.	.	ENST00000521861.1:c.526G>T	p.Val176Phe	p.V176F	ENST00000521861	NM_003756.2	176	Gtt/Ttt	0	1	1	UPI00000477E8	0	NA	ENST00000521861		ENSG00000147677	3273		30	1.65		HGNC	p.V192F		EIF3H		SNV							ENST00000518995	protein_coding	getma.org/?cm=var&var=hg19,8,117669485,C,A&fts=all		HAMAP:MF_03007,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF3		V/F		A	low	550/3959		getma.org/?cm=msa&ty=f&p=EIF3H_HUMAN&rb=147&re=346&var=V176F	tolerated(0.08)	Q6IB98_HUMAN			YES	EIF3H,missense_variant,p.Val176Phe,ENST00000521861,NM_003756.2;EIF3H,missense_variant,p.Val190Phe,ENST00000276682,;EIF3H,missense_variant,p.Val144Phe,ENST00000518949,;EIF3H,missense_variant,p.Val192Phe,ENST00000518995,;EIF3H,downstream_gene_variant,,ENST00000522453,;EIF3H,3_prime_UTR_variant,,ENST00000522800,;EIF3H,non_coding_transcript_exon_variant,,ENST00000520289,;EIF3H,downstream_gene_variant,,ENST00000518034,;EIF3H,downstream_gene_variant,,ENST00000517974,;EIF3H,downstream_gene_variant,,ENST00000519046,;							MODERATE	526/1059	V176F	EIF3H_HUMAN			Transcript		benign(0.007)	.	ENSP00000429931		CCDS6319.1			1	
SLC6A6	0	LGGM	GRCh37	3	14523233	14523233	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	12	.	.	ENST00000454876.2:c.1606T>A	p.Tyr536Asn	p.Y536N	ENST00000454876	NM_001134367.2	536	Tac/Aac	0	1	1	UPI000013549A	0	getma.org/pdb.php?prot=SC6A6_HUMAN&from=41&to=568&var=Y536N	ENST00000454876		ENSG00000131389	11052		36	3.54		HGNC	p.Y536N		SLC6A6		SNV							ENST00000360861	protein_coding	getma.org/?cm=var&var=hg19,3,14523233,T,A&fts=all		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687		Y/N		A	high	1935/6534		getma.org/?cm=msa&ty=f&p=SC6A6_HUMAN&rb=41&re=568&var=Y536N	deleterious(0)	C9JPV1_HUMAN			YES	SLC6A6,missense_variant,p.Tyr536Asn,ENST00000454876,NM_001134367.2,NM_003043.4;SLC6A6,missense_variant,p.Tyr536Asn,ENST00000360861,;SLC6A6,missense_variant,p.Tyr45Asn,ENST00000452151,;SLC6A6,3_prime_UTR_variant,,ENST00000458124,;SLC6A6,downstream_gene_variant,,ENST00000427436,;							MODERATE	1606/1863	Y536N	SC6A6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000398063		CCDS33705.1			1	
RUNX1T1	0	LGGM	GRCh37	8	93003957	93003957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	36	12	.	.	ENST00000436581.2:c.934C>A	p.Arg312Ser	p.R312S	ENST00000436581		312	Cgt/Agt	0	1		UPI000012F7B4	0	NA	ENST00000265814		ENSG00000079102	1535		48	1.95		HGNC	p.R264S		RUNX1T1		SNV			1				ENST00000520724	protein_coding	getma.org/?cm=var&var=hg19,8,93003957,G,T&fts=all		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5		R/S		T	medium	985/3217		getma.org/?cm=msa&ty=f&p=MTG8_HUMAN&rb=216&re=336&var=R301S	tolerated(0.13)	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				RUNX1T1,missense_variant,p.Arg301Ser,ENST00000523629,NM_175634.2,NM_001198633.1,NM_001198630.1,NM_001198626.1;RUNX1T1,missense_variant,p.Arg274Ser,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Arg301Ser,ENST00000265814,NM_001198628.1,NM_001198631.1,NM_001198629.1;RUNX1T1,missense_variant,p.Arg274Ser,ENST00000518844,NM_001198627.1,NM_001198625.1;RUNX1T1,missense_variant,p.Arg264Ser,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Arg264Ser,ENST00000360348,NM_175635.2,NM_001198632.1;RUNX1T1,missense_variant,p.Arg264Ser,ENST00000520724,NM_001198679.1,NM_001198634.1;RUNX1T1,missense_variant,p.Arg312Ser,ENST00000436581,;RUNX1T1,3_prime_UTR_variant,,ENST00000520978,;RUNX1T1,3_prime_UTR_variant,,ENST00000518361,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520047,;RUNX1T1,upstream_gene_variant,,ENST00000521751,;							MODERATE	901/1815	R301S	MTG8_HUMAN			Transcript		benign(0.443)	.	ENSP00000265814		CCDS6256.1			1	
OR5F1	0	LGGM	GRCh37	11	55761560	55761560	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	28	12	.	.	ENST00000278409.1:c.542G>T	p.Ser181Ile	p.S181I	ENST00000278409	NM_003697.1	181	aGt/aTt	0	1	1	UPI0000041D19	0	NA	ENST00000278409		ENSG00000149133	8343		40	-0.57		HGNC	p.S181I		OR5F1		SNV							ENST00000278409	protein_coding	getma.org/?cm=var&var=hg19,11,55761560,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF10,Superfamily_domains:SSF81321		S/I		A	neutral	542/945		getma.org/?cm=msa&ty=f&p=OR5F1_HUMAN&rb=139&re=283&var=S181I	tolerated(1)				YES	OR5F1,missense_variant,p.Ser181Ile,ENST00000278409,NM_003697.1;							MODERATE	542/945	S181I	OR5F1_HUMAN			Transcript		benign(0.084)	.	ENSP00000278409		CCDS31515.1			1	
SIPA1L1	0	LGGM	GRCh37	14	72169140	72169140	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	12	.	.	ENST00000555818.1:c.3564G>T	p.Gln1188His	p.Q1188H	ENST00000555818	NM_015556.1	1188	caG/caT	0	1	1	UPI00000443CB	0	NA	ENST00000555818		ENSG00000197555	20284		28	0.865		HGNC	p.Q1188H		SIPA1L1		SNV							ENST00000381232	protein_coding	getma.org/?cm=var&var=hg19,14,72169140,G,T&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10		Q/H		T	low	3912/7831		getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=1017&re=1216&var=Q1188H	tolerated(0.2)	G3V4Z3_HUMAN			YES	SIPA1L1,missense_variant,p.Gln1188His,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Gln1188His,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Gln1188His,ENST00000381232,NM_001284245.1;SIPA1L1,missense_variant,p.Gln663His,ENST00000537413,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554960,;							MODERATE	3564/5415	Q1188H	SI1L1_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000450832		CCDS9807.1			1	
MARCO	0	LGGM	GRCh37	2	119726739	119726739	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	25	12	.	.	ENST00000327097.4:c.101C>T	p.Pro34Leu	p.P34L	ENST00000327097	NM_006770.3	34	cCa/cTa	0	1	1	UPI0000000DF8	0	NA	ENST00000327097		ENSG00000019169	6895		37	0.975		HGNC	p.P34L		MARCO		SNV							ENST00000327097	protein_coding	getma.org/?cm=var&var=hg19,2,119726739,C,T&fts=all		hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021		P/L		T	low	236/1838		getma.org/?cm=msa&ty=f&p=MARCO_HUMAN&rb=1&re=139&var=P34L	deleterious(0.04)	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN			YES	MARCO,missense_variant,p.Pro34Leu,ENST00000327097,NM_006770.3;MARCO,5_prime_UTR_variant,,ENST00000541757,;MARCO,5_prime_UTR_variant,,ENST00000412481,;							MODERATE	101/1563	P34L	MARCO_HUMAN			Transcript		benign(0.206)	.	ENSP00000318916		CCDS2124.1			1	
ZNF343	0	LGGM	GRCh37	20	2464923	2464923	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	27	13	.	.	ENST00000278772.4:c.684A>T	p.Lys228Asn	p.K228N	ENST00000278772	NM_024325.4	228	aaA/aaT	0	1	1	UPI000013DB8F	0	NA	ENST00000278772		ENSG00000088876	16017		40	1.915		HGNC	p.K228N		ZNF343		SNV							ENST00000278772	protein_coding	getma.org/?cm=var&var=hg19,20,2464923,T,A&fts=all		hmmpanther:PTHR24381:SF97,hmmpanther:PTHR24381		K/N		A	medium	1172/3632		getma.org/?cm=msa&ty=f&p=ZN343_HUMAN&rb=103&re=282&var=K228N	deleterious(0.03)				YES	ZNF343,missense_variant,p.Lys228Asn,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,;							MODERATE	684/1800	K228N	ZN343_HUMAN			Transcript		benign(0.006)	.	ENSP00000278772		CCDS13028.1			1	
SLC44A5	0	LGGM	GRCh37	1	75684992	75684992	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	26	13	.	.	ENST00000370855.5:c.1216A>G	p.Ile406Val	p.I406V	ENST00000370855	NM_152697.4	406	Ata/Gta	0	1	1	UPI000013E195	0	NA	ENST00000370855		ENSG00000137968	28524		39	0.665		HGNC	p.I406V		SLC44A5		SNV							ENST00000370855	protein_coding	getma.org/?cm=var&var=hg19,1,75684992,T,C&fts=all		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42		I/V		C	neutral	1330/4406		getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=327&re=691&var=I406V	tolerated(0.76)	B7Z473_HUMAN			YES	SLC44A5,missense_variant,p.Ile406Val,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Ile406Val,ENST00000370859,NM_001130058.1;SLC44A5,missense_variant,p.Ile276Val,ENST00000535611,;							MODERATE	1216/2160	I406V	CTL5_HUMAN			Transcript		benign(0.004)	.	ENSP00000359892		CCDS667.1			1	
EPHA7	0	LGGM	GRCh37	6	94068118	94068118	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	13	.	.	ENST00000369303.4:c.844G>A	p.Gly282Arg	p.G282R	ENST00000369303	NM_004440.3	282	Ggg/Agg	0	1	1	UPI0000044771	0	getma.org/pdb.php?prot=EPHA7_HUMAN&from=268&to=312&var=G282R	ENST00000369303		ENSG00000135333	3390		28	2.045		HGNC	p.G282R		EPHA7		SNV							ENST00000369303	protein_coding	getma.org/?cm=var&var=hg19,6,94068118,C,T&fts=all		hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Pfam_domain:PF07699,Gene3D:2gy5A03,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF57184		G/R		T	medium	1029/6588		getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=268&re=312&var=G282R	deleterious(0.02)				YES	EPHA7,missense_variant,p.Gly282Arg,ENST00000369303,NM_004440.3,NM_001288629.1;							MODERATE	844/2997	G282R	EPHA7_HUMAN			Transcript		benign(0.106)	.	ENSP00000358309		CCDS5031.1			1	
PMVK	0	LGGM	GRCh37	1	154901530	154901530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	30	13	.	.	ENST00000368467.3:c.282G>T	p.Lys94Asn	p.K94N	ENST00000368467	NM_006556.3	94	aaG/aaT	0	1	1	UPI000013E263	0	getma.org/pdb.php?prot=PMVK_HUMAN&from=14&to=129&var=K94N	ENST00000368467		ENSG00000163344	9141		43	1.445		HGNC	p.K94N		PMVK		SNV							ENST00000368467	protein_coding	getma.org/?cm=var&var=hg19,1,154901530,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF04275,PIRSF_domain:PIRSF036639,hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01223		K/N		A	low	588/1280		getma.org/?cm=msa&ty=f&p=PMVK_HUMAN&rb=14&re=129&var=K94N	tolerated(0.49)	Q6FGV9_HUMAN			YES	PMVK,missense_variant,p.Lys94Asn,ENST00000368467,NM_006556.3;							MODERATE	282/579	K94N	PMVK_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000357452		CCDS1073.1			1	
OBSCN	0	LGGM	GRCh37	1	228494176	228494176	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	4	13	.	.	ENST00000570156.2:c.14634C>T	p.Val4878=	p.V4878=	ENST00000570156	NM_001271223.2	4878	gtC/gtT	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		17			HGNC	p.V3921V		OBSCN		SNV							ENST00000422127	protein_coding			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		V		T		11807/24030								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,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,;							LOW	11763/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
COPS5	0	LGGM	GRCh37	8	67974124	67974124	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	32	13	.	.	ENST00000357849.4:c.108G>T	p.Gln36His	p.Q36H	ENST00000357849	NM_006837.2	36	caG/caT	0	1	1	UPI000006D7AB	0	NA	ENST00000357849		ENSG00000121022	2240		45	1.76		HGNC	p.Q36H		COPS5		SNV							ENST00000517406	protein_coding	getma.org/?cm=var&var=hg19,8,67974124,C,A&fts=all		hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF6		Q/H		A	low	429/1480		getma.org/?cm=msa&ty=f&p=CSN5_HUMAN&rb=1&re=49&var=Q36H	tolerated(0.19)	E5RHF2_HUMAN			YES	COPS5,missense_variant,p.Gln36His,ENST00000357849,NM_006837.2;COPS5,intron_variant,,ENST00000517736,;COPS5,intron_variant,,ENST00000518747,;CSPP1,upstream_gene_variant,,ENST00000262210,NM_024790.6;CSPP1,upstream_gene_variant,,ENST00000412460,;CSPP1,upstream_gene_variant,,ENST00000521919,;AC109335.1,downstream_gene_variant,,ENST00000578628,;COPS5,non_coding_transcript_exon_variant,,ENST00000519963,;COPS5,non_coding_transcript_exon_variant,,ENST00000519057,;COPS5,intron_variant,,ENST00000517793,;COPS5,downstream_gene_variant,,ENST00000518768,;COPS5,missense_variant,p.Gln36His,ENST00000518374,;COPS5,missense_variant,p.Gln36His,ENST00000523890,;COPS5,missense_variant,p.Gln36His,ENST00000517406,;COPS5,non_coding_transcript_exon_variant,,ENST00000521509,;COPS5,upstream_gene_variant,,ENST00000521386,;CSPP1,upstream_gene_variant,,ENST00000519163,;CSPP1,upstream_gene_variant,,ENST00000519701,;							MODERATE	108/1005	Q36H	CSN5_HUMAN			Transcript		benign(0.039)	.	ENSP00000350512		CCDS6198.1			1	
SGIP1	0	LGGM	GRCh37	1	67109404	67109404	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	17	14	.	.	ENST00000371037.4:c.459+2T>C		p.X153_splice	ENST00000371037	NM_032291.2			0	1	1	UPI000045891B	0		ENST00000371037		ENSG00000118473	25412		31			HGNC	-		SGIP1		SNV							ENST00000237247	protein_coding							C		-/7768							YES	SGIP1,splice_donor_variant,,ENST00000371037,NM_032291.2;SGIP1,splice_donor_variant,,ENST00000371036,;SGIP1,splice_donor_variant,,ENST00000371039,;SGIP1,splice_donor_variant,,ENST00000237247,;SGIP1,splice_donor_variant,,ENST00000371035,;SGIP1,splice_donor_variant,,ENST00000424320,;SGIP1,splice_donor_variant,,ENST00000468286,;SGIP1,non_coding_transcript_exon_variant,,ENST00000483060,;							HIGH	459/2487		SGIP1_HUMAN			Transcript			.	ENSP00000360076		CCDS30744.1			1	
ZNF687	0	LGGM	GRCh37	1	151261981	151261981	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	15	14	.	.	ENST00000324048.5:c.2599T>G	p.Phe867Val	p.F867V	ENST00000324048		867	Ttt/Gtt	0	1	1	UPI00000721F7	0	NA	ENST00000324048		ENSG00000143373	29277		29	2.015		HGNC	p.F867V		ZNF687		SNV							ENST00000368879	protein_coding	getma.org/?cm=var&var=hg19,1,151261981,T,G&fts=all		Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF108,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/V		G	medium	3569/5378		getma.org/?cm=msa&ty=f&p=ZN687_HUMAN&rb=838&re=901&var=F867V	deleterious(0)				YES	ZNF687,missense_variant,p.Phe867Val,ENST00000324048,;ZNF687,missense_variant,p.Phe867Val,ENST00000336715,;ZNF687,missense_variant,p.Phe867Val,ENST00000368879,NM_020832.1;ZNF687,missense_variant,p.Phe470Val,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000368875,NM_002651.2;PI4KB,downstream_gene_variant,,ENST00000368874,NM_001198774.1;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000368872,NM_001198773.1;PI4KB,downstream_gene_variant,,ENST00000529142,NM_001198775.1;PI4KB,downstream_gene_variant,,ENST00000455060,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000489889,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,non_coding_transcript_exon_variant,,ENST00000459919,;ZNF687,intron_variant,,ENST00000449313,;							MODERATE	2599/3714	F867V	ZN687_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000319829		CCDS992.1			1	
MARCH10	0	LGGM	GRCh37	17	60814024	60814024	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	51	14	.	.	ENST00000311269.5:c.1205C>A	p.Ser402Ter	p.S402*	ENST00000311269	NM_152598.2	402	tCg/tAg	0	1	1	UPI000013F13A	0	NA	ENST00000311269		ENSG00000173838	26655		65	0		HGNC	p.S402X		MARCH10		SNV							ENST00000311269	protein_coding	getma.org/?cm=var&var=hg19,17,60814024,G,T&fts=all		hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5		S/*		T	NA	1480/3090		NA		J3KTK3_HUMAN			YES	MARCH10,stop_gained,p.Ser401Ter,ENST00000544856,NM_001288780.1;MARCH10,stop_gained,p.Ser440Ter,ENST00000583600,NM_001288779.1;MARCH10,stop_gained,p.Ser402Ter,ENST00000311269,NM_152598.2;MARCH10,stop_gained,p.Ser402Ter,ENST00000456609,NM_001100875.1;MARCH10,stop_gained,p.Ser270Ter,ENST00000580520,;MARCH10,upstream_gene_variant,,ENST00000579620,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000577270,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000582564,;RP11-156L14.1,downstream_gene_variant,,ENST00000579201,;RP11-156L14.1,downstream_gene_variant,,ENST00000584597,;							HIGH	1205/2427	S402*	MARHA_HUMAN			Transcript			.	ENSP00000311496		CCDS11635.1			1	
RNF213	0	LGGM	GRCh37	17	78262483	78262483	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	69	14	.	.	ENST00000582970.1:c.862G>A	p.Glu288Lys	p.E288K	ENST00000582970	NM_001256071.1	288	Gaa/Aaa	0	1	1	UPI0001D3BDB1	0	NA	ENST00000582970		ENSG00000173821	14539		83	1.5		HGNC	p.E288K		RNF213		SNV			1				ENST00000456466	protein_coding	getma.org/?cm=var&var=hg19,17,78262483,G,A&fts=all		hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		E/K		A	low	1005/21055		getma.org/?cm=msa&ty=f&p=RN213_HUMAN&rb=1&re=1691&var=E288K		H3BLU6_HUMAN			YES	RNF213,missense_variant,p.Glu288Lys,ENST00000582970,NM_001256071.1;RNF213,missense_variant,p.Glu337Lys,ENST00000508628,;RNF213,missense_variant,p.Glu288Lys,ENST00000319921,NM_020954.3;RNF213,missense_variant,p.Glu288Lys,ENST00000456466,;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,;RNF213,upstream_gene_variant,,ENST00000573548,;							MODERATE	862/15624	E288K	RN213_HUMAN			Transcript		benign(0.005)	.	ENSP00000464087		CCDS58606.1			1	
SERPINA12	0	LGGM	GRCh37	14	94953713	94953713	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	32	14	.	.	ENST00000341228.2:c.1172T>A	p.Leu391Gln	p.L391Q	ENST00000341228	NM_173850.2	391	cTg/cAg	0	1	1	UPI000000D86C	0	getma.org/pdb.php?prot=SPA12_HUMAN&from=50&to=411&var=L391Q	ENST00000341228		ENSG00000165953	18359		46	3.815		HGNC	p.L391Q		SERPINA12		SNV							ENST00000556881	protein_coding	getma.org/?cm=var&var=hg19,14,94953713,A,T&fts=all		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF149,SMART_domains:SM00093,Superfamily_domains:SSF56574		L/Q		T	high	1968/2061		getma.org/?cm=msa&ty=f&p=SPA12_HUMAN&rb=50&re=411&var=L391Q	deleterious(0)				YES	SERPINA12,missense_variant,p.Leu391Gln,ENST00000341228,NM_173850.2;SERPINA12,missense_variant,p.Leu391Gln,ENST00000556881,;							MODERATE	1172/1245	L391Q	SPA12_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000342109		CCDS9926.1			1	
VNN2	0	LGGM	GRCh37	6	133077102	133077102	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	12	14	.	.	ENST00000326499.6:c.417T>C	p.Asn139=	p.N139=	ENST00000326499	NM_004665.2	139	aaT/aaC	0	1	1	UPI000014194E	0		ENST00000326499		ENSG00000112303	12706		26			HGNC	p.N139N		VNN2		SNV							ENST00000525674	protein_coding			PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF5,Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF011861,Superfamily_domains:SSF56317		N		G		542/2118				E9PRD9_HUMAN,E9PL76_HUMAN,E9PK31_HUMAN			YES	VNN2,synonymous_variant,p.=,ENST00000326499,NM_004665.2;VNN2,synonymous_variant,p.=,ENST00000525270,NM_078488.1;VNN2,synonymous_variant,p.=,ENST00000525289,NM_001242350.1;VNN2,synonymous_variant,p.=,ENST00000524919,;VNN2,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000392389,;VNN2,synonymous_variant,p.=,ENST00000422400,;VNN2,synonymous_variant,p.=,ENST00000418593,;VNN2,synonymous_variant,p.=,ENST00000525674,;VNN2,synonymous_variant,p.=,ENST00000533835,;VNN2,synonymous_variant,p.=,ENST00000532053,;VNN2,synonymous_variant,p.=,ENST00000531279,;VNN2,intron_variant,,ENST00000528801,;							LOW	417/1563		VNN2_HUMAN			Transcript			.	ENSP00000322276		CCDS5161.1			1	
ZNF827	0	LGGM	GRCh37	4	146813517	146813517	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	14	14	.	.	ENST00000379448.4:c.1144G>A	p.Val382Ile	p.V382I	ENST00000379448	NM_178835.3	382	Gtt/Att	0	1		UPI0000DA58F8	0	getma.org/pdb.php?prot=ZN827_HUMAN&from=374&to=396&var=V382I	ENST00000508784		ENSG00000151612	27193		28	0.415		HGNC	p.V382I		ZNF827		SNV							ENST00000379448	protein_coding	getma.org/?cm=var&var=hg19,4,146813517,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/I		T	neutral	1372/7463		getma.org/?cm=msa&ty=f&p=ZN827_HUMAN&rb=354&re=416&var=V382I	deleterious(0)					ZNF827,missense_variant,p.Val382Ile,ENST00000508784,;ZNF827,missense_variant,p.Val382Ile,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Val32Ile,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000508995,;							MODERATE	1144/3246	V382I	ZN827_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000421863					1	
MARCH10	0	LGGM	GRCh37	17	60814025	60814025	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	51	14	.	.	ENST00000311269.5:c.1204T>A	p.Ser402Thr	p.S402T	ENST00000311269	NM_152598.2	402	Tcg/Acg	0	1	1	UPI000013F13A	0	NA	ENST00000311269		ENSG00000173838	26655		65	2.015		HGNC	p.S402T		MARCH10		SNV							ENST00000311269	protein_coding	getma.org/?cm=var&var=hg19,17,60814025,A,T&fts=all		hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5		S/T		T	medium	1479/3090		getma.org/?cm=msa&ty=f&p=MARHA_HUMAN&rb=1&re=647&var=S402T	tolerated(0.22)	J3KTK3_HUMAN			YES	MARCH10,missense_variant,p.Ser401Thr,ENST00000544856,NM_001288780.1;MARCH10,missense_variant,p.Ser440Thr,ENST00000583600,NM_001288779.1;MARCH10,missense_variant,p.Ser402Thr,ENST00000311269,NM_152598.2;MARCH10,missense_variant,p.Ser402Thr,ENST00000456609,NM_001100875.1;MARCH10,missense_variant,p.Ser270Thr,ENST00000580520,;MARCH10,upstream_gene_variant,,ENST00000579620,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000577270,;RP11-156L14.1,non_coding_transcript_exon_variant,,ENST00000582564,;RP11-156L14.1,downstream_gene_variant,,ENST00000579201,;RP11-156L14.1,downstream_gene_variant,,ENST00000584597,;							MODERATE	1204/2427	S402T	MARHA_HUMAN			Transcript		benign(0.111)	.	ENSP00000311496		CCDS11635.1			1	
NME1-NME2	0	LGGM	GRCh37	17	49248894	49248894	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	21	14	.	.	ENST00000393193.2:c.733A>T	p.Ile245Phe	p.I245F	ENST00000393193		245	Atc/Ttc	0	1		UPI0000112864	0	getma.org/pdb.php?prot=NDK8_HUMAN&from=1&to=124&var=I115F	ENST00000514264		ENSG00000243678	33531		35	4.94		HGNC	p.I130F		NME1-NME2		SNV							ENST00000393198	protein_coding	getma.org/?cm=var&var=hg19,17,49248894,A,T&fts=all		Gene3D:3.30.70.141,HAMAP:MF_00451,Pfam_domain:PF00334,Prints_domain:PR01243,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF47,SMART_domains:SM00562,Superfamily_domains:SSF54919		I/F		T	high	639/850		getma.org/?cm=msa&ty=f&p=NDK8_HUMAN&rb=1&re=124&var=I115F	deleterious(0)	Q6FHN3_HUMAN,F6XY72_HUMAN				NME1-NME2,missense_variant,p.Ile270Phe,ENST00000608447,;NME2,missense_variant,p.Ile270Phe,ENST00000555572,;NME1-NME2,missense_variant,p.Ile245Phe,ENST00000393198,NM_001018136.2;NME2,missense_variant,p.Ile245Phe,ENST00000393193,;NME1-NME2,missense_variant,p.Ile130Phe,ENST00000393190,NM_001018138.1;NME1-NME2,missense_variant,p.Ile130Phe,ENST00000514264,NM_001018137.2;NME1-NME2,missense_variant,p.Ile130Phe,ENST00000512737,NM_002512.3;NME1-NME2,missense_variant,p.Ile55Phe,ENST00000393185,;NME1-NME2,missense_variant,p.Ile130Phe,ENST00000503064,;NME1-NME2,missense_variant,p.Ile130Phe,ENST00000513177,;NME1-NME2,missense_variant,p.Ile55Phe,ENST00000393183,NM_001018139.2;NME2,3_prime_UTR_variant,,ENST00000376392,;NME1-NME2,non_coding_transcript_exon_variant,,ENST00000573262,;NME1-NME2,non_coding_transcript_exon_variant,,ENST00000570801,;NME1-NME2,downstream_gene_variant,,ENST00000485076,;							MODERATE	388/459	I115F				Transcript		probably_damaging(0.954)	.	ENSP00000426976		CCDS11580.1			1	
USH1C	0	LGGM	GRCh37	11	17533467	17533467	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	21	14	.	.	ENST00000005226.7:c.1395del	p.Asn466ThrfsTer46	p.N466Tfs*46	ENST00000005226	NM_153676.3	465	atC/at	0	1		UPI000016944D	0		ENST00000318024		ENSG00000006611	12597		35			HGNC	p.I465fs		USH1C		deletion			1				ENST00000005226	protein_coding							-		-/2237								USH1C,frameshift_variant,p.Asn466ThrfsTer46,ENST00000005226,NM_153676.3;USH1C,intron_variant,,ENST00000527720,;USH1C,intron_variant,,ENST00000318024,NM_005709.3;USH1C,intron_variant,,ENST00000527020,;USH1C,intron_variant,,ENST00000529563,;USH1C,downstream_gene_variant,,ENST00000530700,;USH1C,intron_variant,,ENST00000526313,;							MODIFIER	-/1659		USH1C_HUMAN			Transcript			.	ENSP00000317018		CCDS31438.1			1	
KIF20A	0	LGGM	GRCh37	5	137518107	137518107	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	14	.	.	ENST00000394894.3:c.471T>C	p.Tyr157=	p.Y157=	ENST00000394894	NM_005733.2	157	taT/taC	0	1	1	UPI0000000CCE	0		ENST00000394894		ENSG00000112984	9787		38			HGNC	p.Y157Y		KIF20A		SNV							ENST00000394894	protein_coding			Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF352,SMART_domains:SM00129,Superfamily_domains:SSF52540		Y		C		697/3201				D6RBN1_HUMAN,D6R9E4_HUMAN			YES	KIF20A,synonymous_variant,p.=,ENST00000394894,NM_005733.2;KIF20A,synonymous_variant,p.=,ENST00000508792,;KIF20A,synonymous_variant,p.=,ENST00000504621,;KIF20A,synonymous_variant,p.=,ENST00000513276,;BRD8,upstream_gene_variant,,ENST00000254900,NM_139199.1;BRD8,upstream_gene_variant,,ENST00000230901,NM_006696.3;BRD8,upstream_gene_variant,,ENST00000454473,;BRD8,upstream_gene_variant,,ENST00000402931,;BRD8,upstream_gene_variant,,ENST00000411594,NM_001164326.1;BRD8,upstream_gene_variant,,ENST00000418329,;BRD8,upstream_gene_variant,,ENST00000441656,;BRD8,upstream_gene_variant,,ENST00000455658,;BRD8,upstream_gene_variant,,ENST00000430331,;BRD8,upstream_gene_variant,,ENST00000425764,;BRD8,upstream_gene_variant,,ENST00000512140,;BRD8,upstream_gene_variant,,ENST00000432618,;KIF20A,downstream_gene_variant,,ENST00000511638,;BRD8,upstream_gene_variant,,ENST00000428808,;KIF20A,upstream_gene_variant,,ENST00000502338,;KIF20A,downstream_gene_variant,,ENST00000503417,;BRD8,upstream_gene_variant,,ENST00000450756,;BRD8,upstream_gene_variant,,ENST00000515254,;BRD8,upstream_gene_variant,,ENST00000471437,;							LOW	471/2673		KI20A_HUMAN			Transcript			.	ENSP00000378356		CCDS4199.1			1	
NPC1L1	0	LGGM	GRCh37	7	44578731	44578731	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	25	15	.	.	ENST00000289547.4:c.1265A>G	p.Tyr422Cys	p.Y422C	ENST00000289547	NM_013389.2	422	tAt/tGt	0	1	1	UPI000013DF88	0	NA	ENST00000289547		ENSG00000015520	7898		40	2.72		HGNC	p.Y422C		NPC1L1		SNV			1				ENST00000289547	protein_coding	getma.org/?cm=var&var=hg19,7,44578731,T,C&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89		Y/C		C	medium	1321/5048		getma.org/?cm=msa&ty=f&p=NPCL1_HUMAN&rb=401&re=600&var=Y422C	deleterious(0)				YES	NPC1L1,missense_variant,p.Tyr422Cys,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Tyr422Cys,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Tyr422Cys,ENST00000546276,;NPC1L1,missense_variant,p.Tyr422Cys,ENST00000423141,;							MODERATE	1265/4080	Y422C	NPCL1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000289547		CCDS5491.1			1	
GRM8	0	LGGM	GRCh37	7	126173798	126173798	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	26	15	.	.	ENST00000339582.2:c.1638C>A	p.Tyr546Ter	p.Y546*	ENST00000339582		546	taC/taA	0	1	1	UPI000012F085	0	NA	ENST00000339582		ENSG00000179603	4600		41	0		HGNC	p.Y546X		GRM8		SNV							ENST00000339582	protein_coding	getma.org/?cm=var&var=hg19,7,126173798,G,T&fts=all		Pfam_domain:PF07562,PROSITE_patterns:PS00980,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26		Y/*		T	NA	2447/4057		NA		E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,stop_gained,p.Tyr546Ter,ENST00000339582,;GRM8,stop_gained,p.Tyr546Ter,ENST00000358373,NM_001127323.1;GRM8,stop_gained,p.Tyr546Ter,ENST00000444921,NM_000845.2;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,stop_gained,p.Tyr546Ter,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;							HIGH	1638/2727	Y546*	GRM8_HUMAN			Transcript			.	ENSP00000344173		CCDS5794.1			1	
POC5	0	LGGM	GRCh37	5	74986283	74986283	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	32	15	.	.	ENST00000428202.2:c.900A>G	p.Val300=	p.V300=	ENST00000428202	NM_001099271.1	300	gtA/gtG	0	1	1	UPI000020CB20	0		ENST00000428202		ENSG00000152359	26658		47			HGNC	p.V183V		POC5		SNV							ENST00000380475	protein_coding					V		C		1090/2229				D6RJ06_HUMAN,D6REA5_HUMAN,D6RBC1_HUMAN			YES	POC5,synonymous_variant,p.=,ENST00000428202,NM_001099271.1;POC5,synonymous_variant,p.=,ENST00000514838,;POC5,synonymous_variant,p.=,ENST00000380475,;POC5,synonymous_variant,p.=,ENST00000446329,NM_152408.2;POC5,synonymous_variant,p.=,ENST00000510798,;POC5,downstream_gene_variant,,ENST00000503835,;POC5,downstream_gene_variant,,ENST00000504862,;POC5,downstream_gene_variant,,ENST00000357564,;POC5,downstream_gene_variant,,ENST00000515285,;							LOW	900/1728		POC5_HUMAN			Transcript			.	ENSP00000410216		CCDS47236.1			1	
SLC25A36	0	LGGM	GRCh37	3	140695159	140695159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	20	15	.	.	ENST00000324194.6:c.800C>T	p.Thr267Ile	p.T267I	ENST00000324194		267	aCt/aTt	0	1	1	UPI000006D558	0	getma.org/pdb.php?prot=S2536_HUMAN&from=222&to=311&var=T267I	ENST00000324194		ENSG00000114120	25554		35	2.63		HGNC	p.T267I		SLC25A36		SNV							ENST00000324194	protein_coding	getma.org/?cm=var&var=hg19,3,140695159,C,T&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF180,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588		T/I		T	medium	968/1301		getma.org/?cm=msa&ty=f&p=S2536_HUMAN&rb=222&re=311&var=T267I	deleterious(0.01)				YES	SLC25A36,missense_variant,p.Thr266Ile,ENST00000446041,NM_018155.2,NM_001104647.1;SLC25A36,missense_variant,p.Thr267Ile,ENST00000324194,;SLC25A36,missense_variant,p.Thr241Ile,ENST00000453248,;RP11-231L11.3,downstream_gene_variant,,ENST00000513802,;SLC25A36,3_prime_UTR_variant,,ENST00000502594,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000511757,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000514629,;SLC25A36,downstream_gene_variant,,ENST00000512023,;SLC25A36,downstream_gene_variant,,ENST00000512506,;SLC25A36,downstream_gene_variant,,ENST00000502866,;							MODERATE	800/936	T267I	S2536_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000320688		CCDS46927.1			1	
GLI3	0	LGGM	GRCh37	7	42007385	42007385	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	29	15	.	.	ENST00000395925.3:c.2240C>T	p.Thr747Ile	p.T747I	ENST00000395925	NM_000168.5	747	aCc/aTc	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		44	1.78		HGNC	p.T747I		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42007385,G,A&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		T/I		A	low	2325/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=681&re=1089&var=T747I	tolerated(0.1)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Thr747Ile,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,downstream_gene_variant,,ENST00000464291,;							MODERATE	2240/4743	T747I	GLI3_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000379258		CCDS5465.1			1	
SMOC2	0	LGGM	GRCh37	6	168910752	168910752	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	22	16	.	.	ENST00000354536.5:c.242G>T	p.Arg81Leu	p.R81L	ENST00000354536	NM_022138.2	81	cGa/cTa	0	1		UPI00000421E5	0	getma.org/pdb.php?prot=SMOC2_HUMAN&from=44&to=84&var=R81L	ENST00000356284		ENSG00000112562	20323		38	1.745		HGNC	p.R81L		SMOC2		SNV			1				ENST00000354536	protein_coding	getma.org/?cm=var&var=hg19,6,168910752,G,T&fts=all		PROSITE_profiles:PS51465,hmmpanther:PTHR12352:SF11,hmmpanther:PTHR12352,Gene3D:3.30.60.30,Pfam_domain:PF07648,SMART_domains:SM00280,Superfamily_domains:SSF100895,Superfamily_domains:SSF57610		R/L		T	low	462/3117		getma.org/?cm=msa&ty=f&p=SMOC2_HUMAN&rb=44&re=84&var=R81L	deleterious(0)	B4DNB1_HUMAN				SMOC2,missense_variant,p.Arg81Leu,ENST00000354536,NM_022138.2;SMOC2,missense_variant,p.Arg81Leu,ENST00000356284,NM_001166412.1;							MODERATE	242/1341	R81L	SMOC2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000348630		CCDS55076.1			1	
CALHM2	0	LGGM	GRCh37	10	105207034	105207034	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	6	16	.	.	ENST00000260743.5:c.847G>A	p.Gly283Ser	p.G283S	ENST00000260743	NM_015916.4	283	Ggc/Agc	0	1	1	UPI0000070F1F	0	NA	ENST00000260743		ENSG00000138172	23493	8.64E-05	22	1.69		HGNC	p.G283S	rs764207324	CALHM2		SNV							ENST00000260743	protein_coding	getma.org/?cm=var&var=hg19,10,105207034,C,T&fts=all		hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF3		G/S		T	low	1371/1859	4.50E-05	getma.org/?cm=msa&ty=f&p=CAHM2_HUMAN&rb=115&re=321&var=G283S	deleterious(0.01)				YES	CALHM2,missense_variant,p.Gly283Ser,ENST00000260743,NM_015916.4;CALHM2,missense_variant,p.Gly283Ser,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,;							MODERATE	847/972	G283S	CAHM2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000260743	3.29E-05	CCDS7549.1			1	
GABRA2	0	LGGM	GRCh37	4	46307598	46307598	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	64	17	.	.	ENST00000510861.1:c.690T>A	p.Ile230=	p.I230=	ENST00000510861		230	atT/atA	0	1		UPI000013DC88	0		ENST00000356504		ENSG00000151834	4076		81			HGNC	p.I230I		GABRA2		SNV			1				ENST00000356504	protein_coding			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,TIGRFAM_domain:TIGR00860		I		T		1363/2770				Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN				GABRA2,synonymous_variant,p.=,ENST00000510861,;GABRA2,synonymous_variant,p.=,ENST00000514090,;GABRA2,synonymous_variant,p.=,ENST00000356504,NM_001114175.1;GABRA2,synonymous_variant,p.=,ENST00000381620,NM_000807.2;GABRA2,synonymous_variant,p.=,ENST00000515082,;GABRA2,synonymous_variant,p.=,ENST00000540012,NM_001286827.1;GABRA2,synonymous_variant,p.=,ENST00000507069,;GABRA2,intron_variant,,ENST00000510233,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,upstream_gene_variant,,ENST00000514236,;GABRA2,downstream_gene_variant,,ENST00000514193,;							LOW	690/1356		GBRA2_HUMAN			Transcript			.	ENSP00000348897		CCDS3471.1			1	
MGA	0	LGGM	GRCh37	15	42005564	42005564	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	67	17	.	.	ENST00000219905.7:c.3300G>A	p.Gln1100=	p.Q1100=	ENST00000219905	NM_001164273.1	1100	caG/caA	0	1	1	UPI0001B2337E	0		ENST00000219905		ENSG00000174197	14010		84			HGNC	p.Q1100Q		MGA		SNV							ENST00000570161	protein_coding			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32		Q		A		3481/12042				H3BTF4_HUMAN,H3BP52_HUMAN			YES	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.=,ENST00000563576,;MGA,downstream_gene_variant,,ENST00000566718,;							LOW	3300/9198		MGAP_HUMAN			Transcript			.	ENSP00000219905		CCDS55959.1			1	
METTL9	0	LGGM	GRCh37	16	21624099	21624099	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	33	17	.	.	ENST00000358154.3:c.299A>G	p.Tyr100Cys	p.Y100C	ENST00000358154	NM_016025.3	100	tAt/tGt	0	1	1	UPI0000071713	0	NA	ENST00000358154		ENSG00000197006	24586		50	1.12		HGNC	p.Y60C		METTL9		SNV							ENST00000567404	protein_coding	getma.org/?cm=var&var=hg19,16,21624099,A,G&fts=all		Pfam_domain:PF05219,hmmpanther:PTHR12890		Y/C		G	low	557/3256		getma.org/?cm=msa&ty=f&p=METL9_HUMAN&rb=56&re=317&var=Y100C	deleterious(0.01)	Q8TD49_HUMAN,H3BM54_HUMAN,B2R7Q6_HUMAN			YES	METTL9,missense_variant,p.Tyr100Cys,ENST00000358154,NM_016025.3,NM_001077180.1,NM_001288660.1,NM_001288659.1;METTL9,missense_variant,p.Tyr100Cys,ENST00000396014,;METTL9,missense_variant,p.Tyr60Cys,ENST00000567404,;METTL9,missense_variant,p.Tyr27Cys,ENST00000568826,;METTL9,5_prime_UTR_variant,,ENST00000562961,;METTL9,3_prime_UTR_variant,,ENST00000570074,;METTL9,intron_variant,,ENST00000562379,;							MODERATE	299/957	Y100C	METL9_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000350874		CCDS10598.2			1	
RP11-1220K2.2	0	LGGM	GRCh37	7	141896547	141896547	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	40	17	.	.	ENST00000477922.3:c.4563G>A	p.Met1521Ile	p.M1521I	ENST00000477922		1521	atG/atA	0	1	1	UPI0002B8321D	0		ENST00000477922		ENSG00000257743			57			Clone_based_vega_gene	p.M448I		RP11-1220K2.2		SNV							ENST00000550494	protein_coding			hmmpanther:PTHR22762:SF55,hmmpanther:PTHR22762,Pfam_domain:PF01055,Superfamily_domains:SSF51445		M/I		A		4617/7867				C9JNC2_HUMAN				RP11-1220K2.2,missense_variant,p.Met1521Ile,ENST00000477922,;RP11-1220K2.2,non_coding_transcript_exon_variant,,ENST00000496337,;							MODERATE	4563/7548					Transcript		possibly_damaging(0.805)	.	ENSP00000420449					1	
FAM161A	0	LGGM	GRCh37	2	62066690	62066690	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	12	18	.	.	ENST00000404929.1:c.1449A>G	p.Leu483=	p.L483=	ENST00000404929	NM_001201543.1	483	ttA/ttG	0	1		UPI0000160B77	0		ENST00000405894		ENSG00000170264	25808		30			HGNC	p.L483L		FAM161A		SNV			1				ENST00000405894	protein_coding			hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF3,Pfam_domain:PF10595		L		C		1551/3684								FAM161A,synonymous_variant,p.=,ENST00000404929,NM_001201543.1;FAM161A,synonymous_variant,p.=,ENST00000405894,NM_032180.2;FAM161A,synonymous_variant,p.=,ENST00000418113,;FAM161A,3_prime_UTR_variant,,ENST00000456262,;FAM161A,3_prime_UTR_variant,,ENST00000307507,;FAM161A,upstream_gene_variant,,ENST00000496369,;FAM161A,upstream_gene_variant,,ENST00000478494,;							LOW	1449/1983		F161A_HUMAN			Transcript			.	ENSP00000385893		CCDS42687.2			1	
GGCX	0	LGGM	GRCh37	2	85777678	85777678	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	24	18	.	.	ENST00000233838.4:c.2084G>A	p.Ser695Asn	p.S695N	ENST00000233838	NM_000821.5	695	aGc/aAc	0	1	1	UPI0000000DD6	0	NA	ENST00000233838		ENSG00000115486	4247		42	1.67		HGNC	p.S695N		GGCX		SNV			1				ENST00000233838	protein_coding	getma.org/?cm=var&var=hg19,2,85777678,C,T&fts=all		hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639		S/N		T	low	2165/7569		getma.org/?cm=msa&ty=f&p=VKGC_HUMAN&rb=505&re=704&var=S695N	deleterious(0.03)				YES	GGCX,missense_variant,p.Ser695Asn,ENST00000233838,NM_000821.5;GGCX,missense_variant,p.Ser638Asn,ENST00000430215,NM_001142269.2;GGCX,intron_variant,,ENST00000465637,;GGCX,downstream_gene_variant,,ENST00000473665,;GGCX,downstream_gene_variant,,ENST00000482662,;GGCX,downstream_gene_variant,,ENST00000423570,;							MODERATE	2084/2277	S695N	VKGC_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000233838		CCDS1978.1			1	
TCF12	0	LGGM	GRCh37	15	57458611	57458611	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	55	18	.	.	ENST00000438423.2:c.337G>A	p.Glu113Lys	p.E113K	ENST00000438423	NM_207037.1	113	Gag/Aag	0	1		UPI000003B45E	0	NA	ENST00000267811		ENSG00000140262	11623		73	2.02		HGNC	p.E109K		TCF12		SNV			1				ENST00000559609	protein_coding	getma.org/?cm=var&var=hg19,15,57458611,G,A&fts=all		hmmpanther:PTHR11793:SF11,hmmpanther:PTHR11793		E/K		A	medium	641/6061		getma.org/?cm=msa&ty=f&p=HTF4_HUMAN&rb=1&re=200&var=E113K	deleterious(0.01)	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN				TCF12,missense_variant,p.Glu113Lys,ENST00000267811,NM_003205.3,NM_207038.1;TCF12,missense_variant,p.Glu113Lys,ENST00000438423,NM_207037.1,NM_207036.1;TCF12,missense_variant,p.Glu109Lys,ENST00000452095,;TCF12,missense_variant,p.Glu113Lys,ENST00000333725,;TCF12,missense_variant,p.Glu113Lys,ENST00000557843,;TCF12,missense_variant,p.Glu109Lys,ENST00000559609,;TCF12,missense_variant,p.Glu113Lys,ENST00000557947,;TCF12,non_coding_transcript_exon_variant,,ENST00000561346,;TCF12,non_coding_transcript_exon_variant,,ENST00000560887,;TCF12,non_coding_transcript_exon_variant,,ENST00000559216,;TCF12,intron_variant,,ENST00000560190,;TCF12,3_prime_UTR_variant,,ENST00000561152,;							MODERATE	337/2049	E113K	HTF4_HUMAN			Transcript		benign(0.283)	.	ENSP00000267811		CCDS10159.1			1	
MTHFD1L	0	LGGM	GRCh37	6	151247360	151247360	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	38	18	.	.	ENST00000367321.3:c.1185A>T	p.Lys395Asn	p.K395N	ENST00000367321	NM_001242768.1	395	aaA/aaT	0	1	1	UPI00001CE513	0	getma.org/pdb.php?prot=C1TM_HUMAN&from=359&to=978&var=K395N	ENST00000367321		ENSG00000120254	21055		56	4.28		HGNC	p.K66N		MTHFD1L		SNV							ENST00000441122	protein_coding	getma.org/?cm=var&var=hg19,6,151247360,A,T&fts=all		HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		K/N		T	high	1459/3604		getma.org/?cm=msa&ty=f&p=C1TM_HUMAN&rb=359&re=978&var=K395N	deleterious(0)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN			YES	MTHFD1L,missense_variant,p.Lys395Asn,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;MTHFD1L,missense_variant,p.Lys66Asn,ENST00000441122,;MTHFD1L,downstream_gene_variant,,ENST00000367308,;							MODERATE	1185/2937	K395N	C1TM_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000356290		CCDS5228.1			1	
RAVER2	0	LGGM	GRCh37	1	65234374	65234374	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	27	19	.	.	ENST00000371072.4:c.285A>G	p.Lys95=	p.K95=	ENST00000371072	NM_018211.3	95	aaA/aaG	0	1		UPI000050AAAF	0		ENST00000294428		ENSG00000162437	25577		46			HGNC	p.K95K		RAVER2		SNV							ENST00000294428	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF6,SMART_domains:SM00360,Superfamily_domains:SSF54928		K		G		363/4398								RAVER2,synonymous_variant,p.=,ENST00000294428,;RAVER2,synonymous_variant,p.=,ENST00000371072,NM_018211.3;							LOW	285/2076		RAVR2_HUMAN			Transcript			.	ENSP00000294428					1	
OR5H15	0	LGGM	GRCh37	3	97888380	97888380	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	44	19	.	.	ENST00000356526.2:c.837T>A	p.Thr279=	p.T279=	ENST00000356526	NM_001005515.1	279	acT/acA	0	1	1	UPI00001606CE	0		ENST00000356526		ENSG00000233412	31287		63			HGNC	p.T279T		OR5H15		SNV							ENST00000356526	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T		A		837/942							YES	OR5H15,synonymous_variant,p.=,ENST00000356526,NM_001005515.1;							LOW	837/942		O5H15_HUMAN			Transcript			.	ENSP00000373195		CCDS33799.1			1	
DMD	0	LGGM	GRCh37	X	32305687	32305687	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	7	19	.	.	ENST00000357033.4:c.6249C>G	p.Phe2083Leu	p.F2083L	ENST00000357033	NM_004007.2	2083	ttC/ttG	0	1	1	UPI000049E111	0	NA	ENST00000357033		ENSG00000198947	2928		26	0.895		HGNC	p.F2083L		DMD		SNV			1				ENST00000357033	protein_coding	getma.org/?cm=var&var=hg19,X,32305687,G,C&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		F/L		C	low	6456/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1998&re=2100&var=F2083L		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			YES	DMD,missense_variant,p.Phe2083Leu,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Phe2079Leu,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,intron_variant,,ENST00000488902,;							MODERATE	6249/11058	F2083L				Transcript		benign(0)	.	ENSP00000354923		CCDS14233.1			1	
ARMC4	0	LGGM	GRCh37	10	28229560	28229560	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	44	19	.	.	ENST00000305242.5:c.1918C>A	p.Leu640Met	p.L640M	ENST00000305242	NM_018076.2	640	Ctg/Atg	0	1	1	UPI00001A95E1	0	getma.org/pdb.php?prot=ARMC4_HUMAN&from=604&to=844&var=L640M	ENST00000305242		ENSG00000169126	25583		63	3.21		HGNC	p.L640M		ARMC4		SNV			1				ENST00000305242	protein_coding	getma.org/?cm=var&var=hg19,10,28229560,G,T&fts=all		hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Pfam_domain:PF00514,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		L/M		T	medium	2011/3572		getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=604&re=844&var=L640M	deleterious(0.02)	R4GN11_HUMAN,A8K906_HUMAN			YES	ARMC4,missense_variant,p.Leu640Met,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Leu332Met,ENST00000537576,;ARMC4,missense_variant,p.Leu165Met,ENST00000545014,;ARMC4,downstream_gene_variant,,ENST00000480504,;							MODERATE	1918/3135	L640M	ARMC4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000306410		CCDS7157.1			1	
ZNF814	0	LGGM	GRCh37	19	58385730	58385730	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	97	19	.	.	ENST00000435989.2:c.1028A>G	p.Gln343Arg	p.Q343R	ENST00000435989	NM_001144989.1	343	cAg/cGg	0	1	1	UPI0001662BAD	0	getma.org/pdb.php?prot=ZN814_HUMAN&from=338&to=363&var=Q343R	ENST00000435989		ENSG00000204514	33258		116	0.465		HGNC	p.Q343R	rs755514038	ZNF814		SNV							ENST00000435989	protein_coding	getma.org/?cm=var&var=hg19,19,58385730,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF3,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/R		C	neutral	1263/3146		getma.org/?cm=msa&ty=f&p=ZN814_HUMAN&rb=318&re=383&var=Q343R	tolerated(0.21)				YES	ZNF814,missense_variant,p.Gln343Arg,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;ZNF814,intron_variant,,ENST00000594629,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;							MODERATE	1028/2568	Q343R	ZN814_HUMAN	0.000199		Transcript		possibly_damaging(0.514)	.	ENSP00000410545	8.32E-06	CCDS46212.1			1	
COPG1	0	LGGM	GRCh37	3	128987785	128987785	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	54	19	.	.	ENST00000314797.6:c.1785C>T	p.Pro595=	p.P595=	ENST00000314797	NM_016128.3	595	ccC/ccT	0	1	1	UPI000000095F	0		ENST00000314797		ENSG00000181789	2236		73			HGNC	p.P595P		COPG1		SNV							ENST00000314797	protein_coding			PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3		P		T		1889/3076				Q8WUI6_HUMAN			YES	COPG1,synonymous_variant,p.=,ENST00000314797,NM_016128.3;COPG1,intron_variant,,ENST00000509889,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,upstream_gene_variant,,ENST00000514478,;COPG1,downstream_gene_variant,,ENST00000504547,;COPG1,downstream_gene_variant,,ENST00000513410,;COPG1,upstream_gene_variant,,ENST00000512034,;							LOW	1785/2625		COPG1_HUMAN			Transcript			.	ENSP00000325002		CCDS33851.1			1	
CD1D	0	LGGM	GRCh37	1	158152715	158152715	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	39	20	.	.	ENST00000368171.3:c.655C>A	p.Arg219Ser	p.R219S	ENST00000368171	NM_001766.3	219	Cgt/Agt	0	1	1	UPI00000012B1	0	getma.org/pdb.php?prot=CD1D_HUMAN&from=212&to=292&var=R219S	ENST00000368171		ENSG00000158473	1637		59	1.565		HGNC	p.R219S		CD1D		SNV							ENST00000368171	protein_coding	getma.org/?cm=var&var=hg19,1,158152715,C,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,SMART_domains:SM00407,Superfamily_domains:SSF48726		R/S		A	low	1154/2253		getma.org/?cm=msa&ty=f&p=CD1D_HUMAN&rb=212&re=292&var=R219S	deleterious(0.01)				YES	CD1D,missense_variant,p.Arg219Ser,ENST00000368171,NM_001766.3;							MODERATE	655/1008	R219S	CD1D_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000357153		CCDS1173.1			1	
ANKRD28	0	LGGM	GRCh37	3	15719803	15719803	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	34	21	.	.	ENST00000399451.2:c.2530A>G	p.Ser844Gly	p.S844G	ENST00000399451	NM_015199.3	844	Agc/Ggc	0	1	1	UPI00004120FF	0	getma.org/pdb.php?prot=ANR28_HUMAN&from=822&to=854&var=S844G	ENST00000399451		ENSG00000206560	29024		55	2.505		HGNC	p.S844G		ANKRD28		SNV							ENST00000399451	protein_coding	getma.org/?cm=var&var=hg19,3,15719803,T,C&fts=all		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		S/G		C	medium	2898/6564		getma.org/?cm=msa&ty=f&p=ANR28_HUMAN&rb=822&re=854&var=S844G	tolerated(0.1)				YES	ANKRD28,missense_variant,p.Ser844Gly,ENST00000399451,NM_015199.3,NM_001195098.1,NM_001195099.1;ANKRD28,missense_variant,p.Ser877Gly,ENST00000383777,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,upstream_gene_variant,,ENST00000498713,;ANKRD28,missense_variant,p.Ser844Gly,ENST00000412318,;ANKRD28,3_prime_UTR_variant,,ENST00000451422,;ANKRD28,downstream_gene_variant,,ENST00000463533,;ANKRD28,upstream_gene_variant,,ENST00000479043,;							MODERATE	2530/3162	S844G	ANR28_HUMAN			Transcript		benign(0.004)	.	ENSP00000382379		CCDS46769.1			1	
PDZRN4	0	LGGM	GRCh37	12	41966679	41966679	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	36	22	.	.	ENST00000402685.2:c.2098T>A	p.Trp700Arg	p.W700R	ENST00000402685	NM_001164595.1	700	Tgg/Agg	0	1	1	UPI0000D621D0	0	NA	ENST00000402685		ENSG00000165966	30552		58	2.69		HGNC	p.W442R		PDZRN4		SNV							ENST00000539469	protein_coding	getma.org/?cm=var&var=hg19,12,41966679,T,A&fts=all		hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545		W/R		A	medium	2106/3347		getma.org/?cm=msa&ty=f&p=PZRN4_HUMAN&rb=685&re=884&var=W700R	deleterious(0.03)	B3KT02_HUMAN			YES	PDZRN4,missense_variant,p.Trp440Arg,ENST00000298919,;PDZRN4,missense_variant,p.Trp700Arg,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Trp442Arg,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							MODERATE	2098/3111	W700R	PZRN4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000384197		CCDS53777.1			1	
SNAP29	0	LGGM	GRCh37	22	21242042	21242042	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	35	22	.	.	ENST00000215730.7:c.695A>G	p.Asp232Gly	p.D232G	ENST00000215730	NM_004782.3	232	gAc/gGc	0	1	1	UPI0000135B00	0	NA	ENST00000215730		ENSG00000099940	11133		57	1.645		HGNC	p.D232G		SNAP29		SNV			1				ENST00000215730	protein_coding	getma.org/?cm=var&var=hg19,22,21242042,A,G&fts=all		Gene3D:1.20.5.110,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05739,PROSITE_profiles:PS50192,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF0,SMART_domains:SM00397,Superfamily_domains:SSF58038		D/G		G	low	823/4287		getma.org/?cm=msa&ty=f&p=SNP29_HUMAN&rb=201&re=258&var=D232G	tolerated(0.05)	C9JAF7_HUMAN			YES	SNAP29,missense_variant,p.Asp232Gly,ENST00000215730,NM_004782.3;SNAP29,missense_variant,p.Asp139Gly,ENST00000439214,;AC007308.7,downstream_gene_variant,,ENST00000608856,;							MODERATE	695/777	D232G	SNP29_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000215730		CCDS13784.1			1	
ANKRD28	0	LGGM	GRCh37	3	15719785	15719785	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	38	23	.	.	ENST00000399451.2:c.2548A>C	p.Asn850His	p.N850H	ENST00000399451	NM_015199.3	850	Aat/Cat	0	1	1	UPI00004120FF	0	getma.org/pdb.php?prot=ANR28_HUMAN&from=822&to=854&var=N850H	ENST00000399451		ENSG00000206560	29024		61	2.11		HGNC	p.N850H		ANKRD28		SNV							ENST00000399451	protein_coding	getma.org/?cm=var&var=hg19,3,15719785,T,G&fts=all		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		N/H		G	medium	2916/6564		getma.org/?cm=msa&ty=f&p=ANR28_HUMAN&rb=822&re=854&var=N850H	deleterious(0)				YES	ANKRD28,missense_variant,p.Asn850His,ENST00000399451,NM_015199.3,NM_001195098.1,NM_001195099.1;ANKRD28,missense_variant,p.Asn883His,ENST00000383777,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,upstream_gene_variant,,ENST00000498713,;ANKRD28,missense_variant,p.Asn850His,ENST00000412318,;ANKRD28,3_prime_UTR_variant,,ENST00000451422,;ANKRD28,downstream_gene_variant,,ENST00000463533,;ANKRD28,upstream_gene_variant,,ENST00000479043,;							MODERATE	2548/3162	N850H	ANR28_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000382379		CCDS46769.1			1	
COL12A1	0	LGGM	GRCh37	6	75890817	75890817	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	40	23	.	.	ENST00000322507.8:c.2002G>C	p.Glu668Gln	p.E668Q	ENST00000322507	NM_004370.5	668	Gaa/Caa	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=633&to=712&var=E668Q	ENST00000322507		ENSG00000111799	2188		63	1.905		HGNC	p.E668Q		COL12A1		SNV			1				ENST00000483888	protein_coding	getma.org/?cm=var&var=hg19,6,75890817,C,G&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		E/Q		G	medium	2312/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=633&re=712&var=E668Q					YES	COL12A1,missense_variant,p.Glu668Gln,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Glu668Gln,ENST00000483888,;COL12A1,missense_variant,p.Glu668Gln,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;							MODERATE	2002/9192	E668Q	COCA1_HUMAN			Transcript		benign(0.328)	.	ENSP00000325146		CCDS43482.1			1	
SPHKAP	0	LGGM	GRCh37	2	228882857	228882857	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	40	23	.	.	ENST00000392056.3:c.2713G>A	p.Gly905Arg	p.G905R	ENST00000392056	NM_001142644.1	905	Ggg/Agg	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		63	2.24		HGNC	p.G905R		SPHKAP		SNV							ENST00000392056	protein_coding	getma.org/?cm=var&var=hg19,2,228882857,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		G/R		T	medium	2760/6917		getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=801&re=1000&var=G905R	deleterious(0)				YES	SPHKAP,missense_variant,p.Gly905Arg,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Gly905Arg,ENST00000344657,NM_030623.3;							MODERATE	2713/5103	G905R	SPKAP_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000375909		CCDS46537.1			1	
DAB2	0	LGGM	GRCh37	5	39388405	39388405	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	41	25	.	.	ENST00000320816.6:c.687+2T>C		p.X229_splice	ENST00000320816	NM_001343.3			0	1	1	UPI0000169E27	0		ENST00000320816		ENSG00000153071	2662		66			HGNC	-		DAB2		SNV							ENST00000320816	protein_coding							G		-/4534				D6RIA5_HUMAN,D6RGZ1_HUMAN,D6REB1_HUMAN			YES	DAB2,splice_donor_variant,,ENST00000320816,NM_001343.3;DAB2,splice_donor_variant,,ENST00000339788,;DAB2,intron_variant,,ENST00000545653,NM_001244871.1;DAB2,intron_variant,,ENST00000509337,;DAB2,downstream_gene_variant,,ENST00000503513,;DAB2,downstream_gene_variant,,ENST00000511792,;DAB2,splice_donor_variant,,ENST00000512525,;C9,intron_variant,,ENST00000483232,;DAB2,non_coding_transcript_exon_variant,,ENST00000505968,;DAB2,downstream_gene_variant,,ENST00000507539,;							HIGH	687/2313		DAB2_HUMAN			Transcript			.	ENSP00000313391		CCDS34149.1			1	
UBE3A	0	LGGM	GRCh37	15	25599704	25599704	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	61	25	.	.	ENST00000397954.2:c.2260G>A	p.Glu754Lys	p.E754K	ENST00000397954		754	Gaa/Aaa	0	1	1	UPI0000161F3B	0	getma.org/pdb.php?prot=UBE3A_HUMAN&from=576&to=875&var=E754K	ENST00000397954		ENSG00000114062	12496		86	4.35		HGNC	p.E731K		UBE3A		SNV			1				ENST00000566215	protein_coding	getma.org/?cm=var&var=hg19,15,25599704,C,T&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,Pfam_domain:PF00632,SMART_domains:SM00119,PIRSF_domain:PIRSF037201,Superfamily_domains:SSF56204		E/K		T	high	2260/2628		getma.org/?cm=msa&ty=f&p=UBE3A_HUMAN&rb=576&re=875&var=E754K	deleterious(0)	Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN			YES	UBE3A,missense_variant,p.Glu751Lys,ENST00000232165,NM_130839.2,NM_000462.3;UBE3A,missense_variant,p.Glu731Lys,ENST00000438097,NM_130838.1;UBE3A,missense_variant,p.Glu731Lys,ENST00000566215,;UBE3A,missense_variant,p.Glu731Lys,ENST00000428984,;UBE3A,missense_variant,p.Glu754Lys,ENST00000397954,;UBE3A,missense_variant,p.Glu145Lys,ENST00000604860,;SNHG14,intron_variant,,ENST00000554726,;							MODERATE	2260/2628	E754K	UBE3A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000381045		CCDS45192.1			1	
DCDC1	0	LGGM	GRCh37	11	30925203	30925203	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	33	25	.	.	ENST00000303697.4:c.398G>A	p.Gly134Arg	p.G134R	ENST00000303697		134	Ggg/Agg	0	1	1	UPI0002A47319	0	NA	ENST00000597505		ENSG00000170959	20625		58	1.845		HGNC	p.G1446R		DCDC1		SNV							ENST00000597505	protein_coding	getma.org/?cm=var&var=hg19,11,30925203,C,T&fts=all		hmmpanther:PTHR14958:SF19,hmmpanther:PTHR14958,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837		G/R		T	low	4336/5352		getma.org/?cm=msa&ty=f&p=DCDC5_HUMAN&rb=491&re=570&var=G525R	deleterious(0.02)	M0R2J8_HUMAN				DCDC1,missense_variant,p.Gly1446Arg,ENST00000597505,;DCDC1,missense_variant,p.Gly181Arg,ENST00000406071,;DCDC1,missense_variant,p.Gly525Arg,ENST00000339794,;DCDC1,missense_variant,p.Gly134Arg,ENST00000303697,;DCDC1,missense_variant,p.Gly481Arg,ENST00000444572,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;DCDC1,downstream_gene_variant,,ENST00000429306,;							MODERATE	4336/5352	G525R				Transcript		probably_damaging(0.979)	.	ENSP00000472625					1	
FRMPD1	0	LGGM	GRCh37	9	37745966	37745966	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	30	25	.	.	ENST00000539465.1:c.3937G>A	p.Ala1313Thr	p.A1313T	ENST00000539465		1313	Gcc/Acc	0	1		UPI000013D2CC	0	NA	ENST00000377765		ENSG00000070601	29159		55	0.345		HGNC	p.A1313T		FRMPD1		SNV							ENST00000377765	protein_coding	getma.org/?cm=var&var=hg19,9,37745966,G,A&fts=all		hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		A/T		A	neutral	4036/4971		getma.org/?cm=msa&ty=f&p=FRPD1_HUMAN&rb=1155&re=1354&var=A1313T	tolerated(0.64)	F5H0G3_HUMAN				FRMPD1,missense_variant,p.Ala1313Thr,ENST00000539465,;FRMPD1,missense_variant,p.Ala1313Thr,ENST00000377765,NM_014907.2;FRMPD1,downstream_gene_variant,,ENST00000536622,;FRMPD1,downstream_gene_variant,,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;							MODERATE	3937/4737	A1313T	FRPD1_HUMAN			Transcript		benign(0.02)	.	ENSP00000366995		CCDS6612.1			1	
SLC35G2	0	LGGM	GRCh37	3	136573925	136573925	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	30	26	.	.	ENST00000446465.2:c.623T>C	p.Ile208Thr	p.I208T	ENST00000446465	NM_025246.2	208	aTt/aCt	0	1		UPI000013EB08	0	NA	ENST00000393079		ENSG00000168917	28480		56	0		HGNC	p.I208T		SLC35G2		SNV							ENST00000393079	protein_coding	getma.org/?cm=var&var=hg19,3,136573925,T,C&fts=all		Superfamily_domains:0043518,Pfam_domain:PF00892,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF34,Transmembrane_helices:TMhelix		I/T		C	neutral	772/1577		getma.org/?cm=msa&ty=f&p=S35G2_HUMAN&rb=113&re=238&var=I208T	tolerated(0.22)					SLC35G2,missense_variant,p.Ile208Thr,ENST00000446465,NM_025246.2;SLC35G2,missense_variant,p.Ile208Thr,ENST00000393079,NM_001097600.1;RP11-85F14.5,intron_variant,,ENST00000461864,;RP11-85F14.5,intron_variant,,ENST00000474250,;RP11-85F14.5,intron_variant,,ENST00000470236,;							MODERATE	623/1239	I208T	S35G2_HUMAN			Transcript		benign(0.018)	.	ENSP00000376794		CCDS3091.1			1	
SYNCRIP	0	LGGM	GRCh37	6	86324604	86324604	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	42	26	.	.	ENST00000369622.3:c.1742A>G	p.Asn581Ser	p.N581S	ENST00000369622	NM_001159675.1	581	aAt/aGt	0	1	1	UPI000013CF84	0	NA	ENST00000369622		ENSG00000135316	16918		68	1.7		HGNC	p.N581S	rs746222199	SYNCRIP	0.000121	SNV							ENST00000369622	protein_coding	getma.org/?cm=var&var=hg19,6,86324604,T,C&fts=all		hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF131,TIGRFAM_domain:TIGR01648		N/S		C	low	2243/3023		getma.org/?cm=msa&ty=f&p=HNRPQ_HUMAN&rb=548&re=623&var=N581S	tolerated_low_confidence(0.15)	F6UXX1_HUMAN			YES	SYNCRIP,missense_variant,p.Asn581Ser,ENST00000369622,NM_001159675.1,NM_006372.4;SYNCRIP,intron_variant,,ENST00000355238,NM_001159677.1,NM_001253771.1,NM_001159676.1,NM_001159673.1,NM_001159674.1;RP11-321N4.5,intron_variant,,ENST00000503906,;							MODERATE	1742/1872	N581S	HNRPQ_HUMAN			Transcript		unknown(0)	.	ENSP00000358635	1.65E-05	CCDS5005.1			1	
CSMD1	0	LGGM	GRCh37	8	2965311	2965311	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	51	26	.	.	ENST00000537824.1:c.6764T>G	p.Leu2255Arg	p.L2255R	ENST00000537824	NM_033225.5	2255	cTc/cGc	0	1	1	UPI0001B723C6	0	NA	ENST00000537824		ENSG00000183117	14026		77	2.45		HGNC	p.L2256R		CSMD1		SNV							ENST00000400186	protein_coding	getma.org/?cm=var&var=hg19,8,2965311,A,C&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Superfamily_domains:SSF49854		L/R		C	medium	6764/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=2147&re=2258&var=L2256R		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Leu1736Arg,ENST00000335551,;CSMD1,missense_variant,p.Leu2256Arg,ENST00000520002,;CSMD1,missense_variant,p.Leu2256Arg,ENST00000602557,;CSMD1,missense_variant,p.Leu2256Arg,ENST00000602723,;CSMD1,missense_variant,p.Leu2256Arg,ENST00000400186,;CSMD1,missense_variant,p.Leu2255Arg,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Leu2255Arg,ENST00000542608,;CSMD1,downstream_gene_variant,,ENST00000520561,;CSMD1,upstream_gene_variant,,ENST00000523062,;							MODERATE	6764/10695	L2256R				Transcript		probably_damaging(0.999)	.	ENSP00000441462		CCDS55189.1			1	
APOB	0	LGGM	GRCh37	2	21231005	21231005	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	90	28	.	.	ENST00000233242.1:c.8735C>G	p.Thr2912Arg	p.T2912R	ENST00000233242	NM_000384.2	2912	aCa/aGa	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		118	2.015		HGNC	p.T2912R	rs763776578	APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21231005,G,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		T/R		C	medium	8863/14121	1.50E-05	getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=2873&re=3072&var=T2912R		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Thr2912Arg,ENST00000233242,NM_000384.2;							MODERATE	8735/13692	T2912R	APOB_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000233242	8.24E-06	CCDS1703.1			1	
NIN	0	LGGM	GRCh37	14	51224367	51224367	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	49	29	.	.	ENST00000382041.3:c.3381A>T	p.Leu1127Phe	p.L1127F	ENST00000382041	NM_016350.4	1127	ttA/ttT	0	1	1	UPI0000DBEF14	0	NA	ENST00000382041		ENSG00000100503	14906		78	1.7		HGNC	p.L1127F		NIN		SNV			1				ENST00000382041	protein_coding	getma.org/?cm=var&var=hg19,14,51224367,T,A&fts=all		hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11		L/F		A	low	3572/6496		getma.org/?cm=msa&ty=f&p=NIN_HUMAN&rb=621&re=2088&var=L1127F	deleterious(0.04)	H7C162_HUMAN,E9PJH9_HUMAN			YES	NIN,missense_variant,p.Leu1127Phe,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Leu1127Phe,ENST00000530997,;NIN,missense_variant,p.Leu1127Phe,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Leu1127Phe,ENST00000324330,;NIN,missense_variant,p.Leu1127Phe,ENST00000382041,NM_016350.4,NM_182946.1;NIN,missense_variant,p.Leu618Phe,ENST00000530853,;NIN,missense_variant,p.Leu618Phe,ENST00000389869,;NIN,intron_variant,,ENST00000389868,;NIN,intron_variant,,ENST00000382043,;NIN,missense_variant,p.Leu1127Phe,ENST00000476352,;							MODERATE	3381/6273	L1127F	NIN_HUMAN			Transcript		benign(0.413)	.	ENSP00000371472		CCDS32079.1			1	
GALNT7	0	LGGM	GRCh37	4	174216609	174216609	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	19	29	.	.	ENST00000265000.4:c.817C>T	p.Arg273Ter	p.R273*	ENST00000265000	NM_017423.2	273	Cga/Tga	0	1	1	UPI000000DB3C	0	NA	ENST00000265000		ENSG00000109586	4129		48	0		HGNC	p.R273X	COSM208172	GALNT7		SNV						1	ENST00000265000	protein_coding	getma.org/?cm=var&var=hg19,4,174216609,C,T&fts=all		hmmpanther:PTHR11675:SF31,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		R/*		T	NA	900/4307		NA		Q4W5F7_HUMAN			YES	GALNT7,stop_gained,p.Arg273Ter,ENST00000265000,NM_017423.2;GALNT7,stop_gained,p.Arg70Ter,ENST00000505308,;GALNT7,stop_gained,p.Arg273Ter,ENST00000512285,;GALNT7,non_coding_transcript_exon_variant,,ENST00000502407,;GALNT7,upstream_gene_variant,,ENST00000506317,;					1		HIGH	817/1974	R273*	GALT7_HUMAN			Transcript			.	ENSP00000265000		CCDS3815.1			1	
NRIP1	0	LGGM	GRCh37	21	16337836	16337836	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	31	30	.	.	ENST00000400202.1:c.2678C>T	p.Ser893Phe	p.S893F	ENST00000400202		893	tCc/tTc	0	1		UPI000004A0A8	0	NA	ENST00000318948		ENSG00000180530	8001		61	0.895		HGNC	p.S893F		NRIP1		SNV							ENST00000400199	protein_coding	getma.org/?cm=var&var=hg19,21,16337836,G,A&fts=all		hmmpanther:PTHR15088		S/F		A	low	3276/7556		getma.org/?cm=msa&ty=f&p=NRIP1_HUMAN&rb=1&re=954&var=S893F	deleterious(0.04)	N0GWB6_HUMAN,N0GW17_HUMAN,C9J130_HUMAN				NRIP1,missense_variant,p.Ser893Phe,ENST00000400202,;NRIP1,missense_variant,p.Ser893Phe,ENST00000400199,;NRIP1,missense_variant,p.Ser893Phe,ENST00000318948,NM_003489.3;NRIP1,downstream_gene_variant,,ENST00000411932,;AF127577.10,downstream_gene_variant,,ENST00000446301,;							MODERATE	2678/3477	S893F	NRIP1_HUMAN			Transcript		possibly_damaging(0.805)	.	ENSP00000327213		CCDS13568.1			1	
UNC13B	0	LGGM	GRCh37	9	35375122	35375122	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	61	33	.	.	ENST00000378495.3:c.1294-2A>T		p.X432_splice	ENST00000378495	NM_006377.3			0	1	1	UPI0000211336	0		ENST00000378495		ENSG00000198722	12566		94			HGNC	-		UNC13B		SNV							ENST00000396787	protein_coding							T		-/6303							YES	UNC13B,splice_acceptor_variant,,ENST00000378495,NM_006377.3;UNC13B,splice_acceptor_variant,,ENST00000396787,;UNC13B,splice_acceptor_variant,,ENST00000378496,;							HIGH	1294/4776		UN13B_HUMAN			Transcript			.	ENSP00000367756		CCDS6579.1			1	
KIAA0753	0	LGGM	GRCh37	17	6515305	6515305	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	16	34	.	.	ENST00000361413.3:c.1479A>T	p.Lys493Asn	p.K493N	ENST00000361413	NM_014804.2	493	aaA/aaT	0	1	1	UPI000013D2BF	0	NA	ENST00000361413		ENSG00000198920	29110		50	1.59		HGNC	p.K194N		KIAA0753		SNV							ENST00000572370	protein_coding	getma.org/?cm=var&var=hg19,17,6515305,T,A&fts=all		hmmpanther:PTHR15732:SF3,hmmpanther:PTHR15732		K/N		A	low	1838/4859		getma.org/?cm=msa&ty=f&p=K0753_HUMAN&rb=1&re=635&var=K493N	deleterious(0.03)	I3L1P2_HUMAN,I3L0P7_HUMAN,B7Z6L6_HUMAN			YES	KIAA0753,missense_variant,p.Lys493Asn,ENST00000361413,NM_014804.2;KIAA0753,missense_variant,p.Lys194Asn,ENST00000542606,;KIAA0753,missense_variant,p.Lys194Asn,ENST00000572370,;KIAA0753,intron_variant,,ENST00000589033,;KIAA0753,3_prime_UTR_variant,,ENST00000570790,;KIAA0753,intron_variant,,ENST00000542826,;							MODERATE	1479/2904	K493N	K0753_HUMAN			Transcript		benign(0.047)	.	ENSP00000355250		CCDS42247.1			1	
THUMPD2	0	LGGM	GRCh37	2	39998756	39998756	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	28	35	.	.	ENST00000505747.1:c.151T>G	p.Phe51Val	p.F51V	ENST00000505747	NM_025264.4	51	Ttt/Gtt	0	1	1	UPI0000D6DA73	0	NA	ENST00000505747		ENSG00000138050	14890		63	2.125		HGNC	p.F22V		THUMPD2		SNV							ENST00000510781	protein_coding	getma.org/?cm=var&var=hg19,2,39998756,A,C&fts=all		hmmpanther:PTHR14911:SF1,hmmpanther:PTHR14911		F/V		C	medium	179/1970		getma.org/?cm=msa&ty=f&p=THUM2_HUMAN&rb=1&re=144&var=F51V	deleterious(0)	D6W593_HUMAN			YES	THUMPD2,missense_variant,p.Phe51Val,ENST00000505747,NM_025264.4;THUMPD2,missense_variant,p.Phe21Val,ENST00000260619,;THUMPD2,missense_variant,p.Phe21Val,ENST00000454352,;THUMPD2,non_coding_transcript_exon_variant,,ENST00000403537,;THUMPD2,intron_variant,,ENST00000531687,;THUMPD2,missense_variant,p.Phe51Val,ENST00000378727,;THUMPD2,missense_variant,p.Phe45Val,ENST00000530522,;THUMPD2,missense_variant,p.Phe22Val,ENST00000510781,;THUMPD2,upstream_gene_variant,,ENST00000460072,;							MODERATE	151/1512	F51V	THUM2_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000423933		CCDS1805.2			1	
GRIN2A	0	LGGM	GRCh37	16	9928007	9928007	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060638	H060638N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	69	38	.	.	ENST00000330684.3:c.1732T>C	p.Tyr578His	p.Y578H	ENST00000330684	NM_001134407.1	578	Tac/Cac	0	1		UPI000000D7AB	0	NA	ENST00000330684		ENSG00000183454	4585		107	1.01		HGNC	p.Y578H		GRIN2A		SNV			1				ENST00000562109	protein_coding	getma.org/?cm=var&var=hg19,16,9928007,A,G&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00060,Pfam_domain:PF00497,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,SMART_domains:SM00079,Transmembrane_helices:TMhelix		Y/H		G	low	2280/5031		getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=554&re=828&var=Y578H	deleterious(0.01)	Q547U9_HUMAN				GRIN2A,missense_variant,p.Tyr578His,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Tyr578His,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Tyr578His,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Tyr578His,ENST00000562109,;GRIN2A,missense_variant,p.Tyr578His,ENST00000396575,;GRIN2A,missense_variant,p.Tyr421His,ENST00000535259,;							MODERATE	1732/4395	Y578H	NMDE1_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000332549		CCDS10539.1			1	
PPWD1	0	LGGM	GRCh37	5	64878974	64878974	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	81	42	.	.	ENST00000261308.5:c.1460C>G	p.Pro487Arg	p.P487R	ENST00000261308	NM_001278927.1	487	cCt/cGt	0	1	1	UPI000004CAF3	0	NA	ENST00000261308		ENSG00000113593	28954		123	1.295		HGNC	p.P457R		PPWD1		SNV							ENST00000535264	protein_coding	getma.org/?cm=var&var=hg19,5,64878974,C,G&fts=all		Gene3D:2.40.100.10,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF213,Superfamily_domains:SSF50891		P/R		G	low	1532/2166		getma.org/?cm=msa&ty=f&p=PPWD1_HUMAN&rb=309&re=492&var=P487R	tolerated(0.23)	D6R9Q1_HUMAN,B4DWR9_HUMAN			YES	PPWD1,missense_variant,p.Pro487Arg,ENST00000261308,NM_001278927.1,NM_015342.3;PPWD1,missense_variant,p.Pro457Arg,ENST00000535264,NM_001278926.1;PPWD1,missense_variant,p.Pro331Arg,ENST00000538977,NM_001278929.1;PPWD1,3_prime_UTR_variant,,ENST00000510930,;PPWD1,3_prime_UTR_variant,,ENST00000511908,;PPWD1,non_coding_transcript_exon_variant,,ENST00000513773,;PPWD1,non_coding_transcript_exon_variant,,ENST00000511334,;PPWD1,non_coding_transcript_exon_variant,,ENST00000515151,;PPWD1,downstream_gene_variant,,ENST00000514172,;							MODERATE	1460/1941	P487R	PPWD1_HUMAN			Transcript		benign(0.02)	.	ENSP00000261308		CCDS3985.1			1	
MLXIP	0	LGGM	GRCh37	12	122622122	122622122	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	59	43	.	.	ENST00000319080.7:c.2139T>C	p.Asn713=	p.N713=	ENST00000319080	NM_014938.4_dupl16	713	aaT/aaC	0	1	1	UPI0000D6226F	0		ENST00000319080		ENSG00000175727	17055		102			HGNC	p.N320N		MLXIP		SNV							ENST00000539039	protein_coding			hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23		N		C		2271/8427				F5H321_HUMAN			YES	MLXIP,synonymous_variant,p.=,ENST00000319080,NM_014938.4_dupl16;MLXIP,synonymous_variant,p.=,ENST00000538698,;MLXIP,synonymous_variant,p.=,ENST00000366272,;MLXIP,synonymous_variant,p.=,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000377037,;MLXIP,downstream_gene_variant,,ENST00000535996,;MLXIP,non_coding_transcript_exon_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000539861,;MLXIP,downstream_gene_variant,,ENST00000538061,;							LOW	2139/2760		MLXIP_HUMAN			Transcript			.	ENSP00000312834					1	
SKA2	0	LGGM	GRCh37	17	57196717	57196717	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060638	H060638N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	134	48	.	.	ENST00000330137.7:c.260A>T	p.Asn87Ile	p.N87I	ENST00000330137	NM_182620.3	87	aAt/aTt	0	1	1	UPI0000070DA6	0	getma.org/pdb.php?prot=SKA2L_HUMAN&from=1&to=118&var=N87I	ENST00000330137		ENSG00000182628	28006		182	0.205		HGNC	p.N58I		SKA2		SNV							ENST00000578105	protein_coding	getma.org/?cm=var&var=hg19,17,57196717,T,A&fts=all		hmmpanther:PTHR32017,hmmpanther:PTHR32017:SF2		N/I		A	neutral	366/2798		getma.org/?cm=msa&ty=f&p=SKA2L_HUMAN&rb=1&re=118&var=N87I	tolerated(0.08)	J3QL03_HUMAN			YES	SKA2,missense_variant,p.Asn87Ile,ENST00000330137,NM_182620.3;SKA2,missense_variant,p.Asn58Ile,ENST00000578105,;SKA2,missense_variant,p.Asn87Ile,ENST00000583380,;SKA2,intron_variant,,ENST00000580541,;SKA2,intron_variant,,ENST00000437036,NM_001100595.1;SKA2,intron_variant,,ENST00000581068,;SKA2,downstream_gene_variant,,ENST00000584089,;AC099850.1,downstream_gene_variant,,ENST00000451775,;SKA2,intron_variant,,ENST00000583927,;SKA2,3_prime_UTR_variant,,ENST00000578519,;SKA2,3_prime_UTR_variant,,ENST00000583976,;							MODERATE	260/366	N87I	SKA2_HUMAN			Transcript		benign(0.004)	.	ENSP00000333433		CCDS45747.1			1	
PLB1	0	LGGM	GRCh37	2	28755034	28755034	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	49	53	.	.	ENST00000327757.5:c.528G>C	p.Gln176His	p.Q176H	ENST00000327757	NM_153021.4	176	caG/caC	0	1	1	UPI0000D6117C	0	NA	ENST00000327757		ENSG00000163803	30041		102	1.905		HGNC	p.Q176H		PLB1		SNV							ENST00000422425	protein_coding	getma.org/?cm=var&var=hg19,2,28755034,G,C&fts=all		hmmpanther:PTHR21325,hmmpanther:PTHR21325:SF1		Q/H		C	medium	572/5107		getma.org/?cm=msa&ty=f&p=PLB1_HUMAN&rb=1&re=200&var=Q176H	tolerated(0.23)				YES	PLB1,missense_variant,p.Gln176His,ENST00000422425,NM_001170585.1;PLB1,missense_variant,p.Gln176His,ENST00000327757,NM_153021.4;PLB1,missense_variant,p.Gln175His,ENST00000404858,;PLB1,missense_variant,p.Gln120His,ENST00000416713,;							MODERATE	528/4377	Q176H	PLB1_HUMAN			Transcript		benign(0.04)	.	ENSP00000330442		CCDS33168.1			1	
ACOT9	0	LGGM	GRCh37	X	23723946	23723946	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060638	H060638N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	23	64	.	.	ENST00000379303.5:c.872C>T	p.Pro291Leu	p.P291L	ENST00000379303	NM_001037171.1	291	cCc/cTc	0	1		UPI000013F264	0	NA	ENST00000336430		ENSG00000123130	17152		87	3.335		HGNC	p.P208L		ACOT9		SNV							ENST00000473710	protein_coding	getma.org/?cm=var&var=hg19,X,23723946,G,A&fts=all		Gene3D:3.10.129.10,hmmpanther:PTHR12655,hmmpanther:PTHR12655:SF0		P/L		A	medium	977/1675		getma.org/?cm=msa&ty=f&p=ACOT9_HUMAN&rb=201&re=306&var=P282L	deleterious(0.04)	Q9H2R8_HUMAN,Q96EA2_HUMAN				ACOT9,missense_variant,p.Pro291Leu,ENST00000379303,NM_001037171.1;ACOT9,missense_variant,p.Pro222Leu,ENST00000379295,;ACOT9,missense_variant,p.Pro282Leu,ENST00000336430,NM_001033583.2;ACOT9,missense_variant,p.Pro208Leu,ENST00000473710,;ACOT9,downstream_gene_variant,,ENST00000492081,;ACOT9,3_prime_UTR_variant,,ENST00000494361,;ACOT9,non_coding_transcript_exon_variant,,ENST00000379297,;ACOT9,downstream_gene_variant,,ENST00000449612,;							MODERATE	845/1320	P282L	ACOT9_HUMAN			Transcript		possibly_damaging(0.557)	.	ENSP00000336580		CCDS35216.1			1	
ZNF595	0	LGGM	GRCh37	4	59386	59386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060638	H060638N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060638N.bam, H060638T.bam	Illumina HiSeq	555	131	.	.	ENST00000526473.2:c.67C>A	p.Pro23Thr	p.P23T	ENST00000526473		23	Cct/Act	0	1	1	UPI00020651F4	0		ENST00000526473		ENSG00000197701	27196		686			HGNC	p.P23T	rs778471887	ZNF595	6.06E-05	SNV							ENST00000526473	protein_coding			Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF44,SMART_domains:SM00349		P/T		A		240/452			tolerated_low_confidence(1)	F5H663_HUMAN			YES	ZNF595,missense_variant,p.Pro23Thr,ENST00000509152,;ZNF595,missense_variant,p.Pro23Thr,ENST00000526473,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000512065,;ZNF595,intron_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;							MODERATE	67/279					Transcript		benign(0.023)	.	ENSP00000437878	8.24E-06				1	
ATP13A1	0	LGGM	GRCh37	19	19767911	19767911	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	7	2	.	.	ENST00000357324.6:c.798C>A	p.Ser266Arg	p.S266R	ENST00000357324	NM_020410.2	266	agC/agA	0	1	1	UPI0000126647	0	NA	ENST00000357324		ENSG00000105726	24215		9	3.61		HGNC	p.S148R		ATP13A1		SNV							ENST00000291503	protein_coding	getma.org/?cm=var&var=hg19,19,19767911,G,T&fts=all		Superfamily_domains:0049473,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82		S/R		T	high	825/3861		getma.org/?cm=msa&ty=f&p=AT131_HUMAN&rb=266&re=516&var=S266R	deleterious(0)	Q8N3E5_HUMAN			YES	ATP13A1,missense_variant,p.Ser266Arg,ENST00000357324,NM_020410.2;ATP13A1,missense_variant,p.Ser148Arg,ENST00000291503,;ATP13A1,missense_variant,p.Ser185Arg,ENST00000455627,;ATP13A1,upstream_gene_variant,,ENST00000496082,;ATP13A1,downstream_gene_variant,,ENST00000487364,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000474955,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000492774,;ATP13A1,upstream_gene_variant,,ENST00000473243,;ATP13A1,upstream_gene_variant,,ENST00000469641,;ATP13A1,upstream_gene_variant,,ENST00000497556,;ATP13A1,upstream_gene_variant,,ENST00000491221,;ATP13A1,upstream_gene_variant,,ENST00000497156,;ATP13A1,upstream_gene_variant,,ENST00000497762,;ATP13A1,upstream_gene_variant,,ENST00000471063,;							MODERATE	798/3615	S266R	AT131_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349877		CCDS32970.2			1	
NKX3-2	0	LGGM	GRCh37	4	13543778	13543778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	2	2	.	.	ENST00000382438.5:c.841G>T	p.Ala281Ser	p.A281S	ENST00000382438	NM_001189.3	281	Gcc/Tcc	0	1	1	UPI00001301F5	0	NA	ENST00000382438		ENSG00000109705	951		4	1.12		HGNC	p.A281S		NKX3-2		SNV			1				ENST00000382438	protein_coding	getma.org/?cm=var&var=hg19,4,13543778,C,A&fts=all		hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF22,Low_complexity_(Seg):seg		A/S		A	low	1477/2801		getma.org/?cm=msa&ty=f&p=NKX32_HUMAN&rb=264&re=333&var=A281S	deleterious(0.03)				YES	NKX3-2,missense_variant,p.Ala281Ser,ENST00000382438,NM_001189.3;LINC01096,downstream_gene_variant,,ENST00000501050,;LINC01096,downstream_gene_variant,,ENST00000503938,;							MODERATE	841/1002	A281S	NKX32_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000371875		CCDS3410.1			1	
LRP1	0	LGGM	GRCh37	12	57604533	57604533	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	18	2	.	.	ENST00000243077.3:c.12787A>C	p.Thr4263Pro	p.T4263P	ENST00000243077	NM_002332.2	4263	Acg/Ccg	0	1	1	UPI00001B044F	0	NA	ENST00000243077		ENSG00000123384	6692		20	3.72		HGNC	p.T4263P		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57604533,A,C&fts=all		Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181		T/P		C	high	13253/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=4232&re=4268&var=T4263P		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Thr4263Pro,ENST00000243077,NM_002332.2;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,downstream_gene_variant,,ENST00000451724,;							MODERATE	12787/13635	T4263P	LRP1_HUMAN			Transcript		benign(0.18)	.	ENSP00000243077		CCDS8932.1			1	
PTPRS	0	LGGM	GRCh37	19	5212372	5212372	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	3	2	.	.	ENST00000357368.4:c.4745C>T	p.Ala1582Val	p.A1582V	ENST00000357368	NM_002850.3	1582	gCc/gTc	0	1	1	UPI000059D63E	0	getma.org/pdb.php?prot=PTPRS_HUMAN&from=1416&to=1647&var=A1582V	ENST00000357368		ENSG00000105426	9681		5	1.36		HGNC	p.A1582V	rs771943247	PTPRS		SNV							ENST00000587303	protein_coding	getma.org/?cm=var&var=hg19,19,5212372,G,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		A/V		A	low	4979/7347	3.55E-05	getma.org/?cm=msa&ty=f&p=PTPRS_HUMAN&rb=1416&re=1647&var=A1582V	deleterious(0.02)	K7ESP0_HUMAN,K7ERX4_HUMAN			YES	PTPRS,missense_variant,p.Ala1583Val,ENST00000372412,;PTPRS,missense_variant,p.Ala1582Val,ENST00000357368,NM_002850.3;PTPRS,missense_variant,p.Ala1562Val,ENST00000262963,;PTPRS,missense_variant,p.Ala1544Val,ENST00000348075,NM_130854.2;PTPRS,missense_variant,p.Ala1582Val,ENST00000587303,;PTPRS,missense_variant,p.Ala1135Val,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,missense_variant,p.Ala1544Val,ENST00000588012,;PTPRS,missense_variant,p.Ala1135Val,ENST00000592099,;PTPRS,non_coding_transcript_exon_variant,,ENST00000588552,;PTPRS,downstream_gene_variant,,ENST00000589851,;	0.000146						MODERATE	4745/5847	A1582V	PTPRS_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000349932	2.47E-05	CCDS45930.1			1	
DMXL1	0	LGGM	GRCh37	5	118437662	118437662	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	9	3	.	.	ENST00000311085.8:c.246T>G	p.Ile82Met	p.I82M	ENST00000311085	NM_005509.4	82	atT/atG	0	1	1	UPI000013F0EC	0	NA	ENST00000311085		ENSG00000172869	2937		12	2.565		HGNC	p.I82M		DMXL1		SNV							ENST00000503802	protein_coding	getma.org/?cm=var&var=hg19,5,118437662,T,G&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Superfamily_domains:SSF50978		I/M		G	medium	326/11072		getma.org/?cm=msa&ty=f&p=DMXL1_HUMAN&rb=1&re=158&var=I82M	deleterious(0.03)	F1T0K4_HUMAN,E7EMZ0_HUMAN			YES	DMXL1,missense_variant,p.Ile82Met,ENST00000311085,NM_005509.4;DMXL1,missense_variant,p.Ile82Met,ENST00000539542,;DMXL1,missense_variant,p.Ile82Met,ENST00000503802,;DMXL1,non_coding_transcript_exon_variant,,ENST00000509902,;DMXL1,non_coding_transcript_exon_variant,,ENST00000510924,;DMXL1,non_coding_transcript_exon_variant,,ENST00000515335,;DMXL1,upstream_gene_variant,,ENST00000514151,;							MODERATE	246/9084	I82M	DMXL1_HUMAN			Transcript		benign(0.015)	.	ENSP00000309690		CCDS4125.1			1	
KLF7	0	LGGM	GRCh37	2	207988889	207988889	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	9	3	.	.	ENST00000309446.6:c.342G>A	p.Pro114=	p.P114=	ENST00000309446	NM_003709.3	114	ccG/ccA	0	1	1	UPI0000042958	0		ENST00000309446		ENSG00000118263	6350		12			HGNC	p.P114P	rs375338680	KLF7		SNV	T:0.0002			9.65E-05			ENST00000309446	protein_coding			hmmpanther:PTHR23223:SF2,hmmpanther:PTHR23223		P	T:0	T		719/8362				Q53TP3_HUMAN,Q4ZG79_HUMAN,E7EUU0_HUMAN,E7EQY2_HUMAN			YES	KLF7,synonymous_variant,p.=,ENST00000309446,NM_003709.3;KLF7,synonymous_variant,p.=,ENST00000421199,NM_001270943.1;KLF7,synonymous_variant,p.=,ENST00000423015,NM_001270942.1;KLF7,synonymous_variant,p.=,ENST00000412414,NM_001270944.1;KLF7,synonymous_variant,p.=,ENST00000435602,;KLF7,intron_variant,,ENST00000458272,;KLF7,downstream_gene_variant,,ENST00000426163,;KLF7,downstream_gene_variant,,ENST00000457962,;KLF7-IT1,upstream_gene_variant,,ENST00000428777,;KLF7,intron_variant,,ENST00000467833,;KLF7,downstream_gene_variant,,ENST00000451244,;							LOW	342/909		KLF7_HUMAN			Transcript			.	ENSP00000309570	8.24E-06	CCDS2373.1			1	
TIA1	0	LGGM	GRCh37	2	70441552	70441552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	15	3	.	.	ENST00000433529.2:c.963G>T	p.Gln321His	p.Q321H	ENST00000433529	NM_022173.2	321	caG/caT	0	1	1	UPI0000410EF5	0	NA	ENST00000433529		ENSG00000116001	11802		18	2.005		HGNC	p.Q92H		TIA1		SNV			1				ENST00000454815	protein_coding	getma.org/?cm=var&var=hg19,2,70441552,C,A&fts=all		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF271		Q/H		A	medium	1174/4647		getma.org/?cm=msa&ty=f&p=TIA1_HUMAN&rb=281&re=386&var=Q321H	deleterious(0.01)	F8WE16_HUMAN			YES	TIA1,missense_variant,p.Gln321His,ENST00000433529,NM_022173.2;TIA1,missense_variant,p.Gln310His,ENST00000415783,NM_022037.2;TIA1,missense_variant,p.Gln320His,ENST00000282574,;TIA1,missense_variant,p.Gln92His,ENST00000454815,;TIA1,intron_variant,,ENST00000445587,;TIA1,downstream_gene_variant,,ENST00000416149,;TIA1,non_coding_transcript_exon_variant,,ENST00000468787,;C2orf42,intron_variant,,ENST00000470096,;TIA1,downstream_gene_variant,,ENST00000482876,;TIA1,non_coding_transcript_exon_variant,,ENST00000495774,;TIA1,non_coding_transcript_exon_variant,,ENST00000486392,;TIA1,downstream_gene_variant,,ENST00000474809,;TIA1,downstream_gene_variant,,ENST00000474699,;TIA1,downstream_gene_variant,,ENST00000496096,;TIA1,downstream_gene_variant,,ENST00000477415,;TIA1,downstream_gene_variant,,ENST00000484065,;TIA1,downstream_gene_variant,,ENST00000497672,;							MODERATE	963/1161	Q321H	TIA1_HUMAN			Transcript		possibly_damaging(0.596)	.	ENSP00000401371		CCDS1901.1			1	
DNMT3A	0	LGGM	GRCh37	2	25458593	25458593	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	19	3	.	.	ENST00000264709.3:c.2580G>A	p.Trp860Ter	p.W860*	ENST00000264709	NM_175629.2	860	tgG/tgA	0	1	1	UPI000000DA70	0	NA	ENST00000264709		ENSG00000119772	2978		22	0		HGNC	p.W671X	rs376830288	DNMT3A		SNV	T:0.0002		1	9.61E-05			ENST00000380746	protein_coding	getma.org/?cm=var&var=hg19,2,25458593,C,T&fts=all		PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Superfamily_domains:SSF53335		W/*	T:0	T	NA	2918/4380		NA		Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,stop_gained,p.Trp860Ter,ENST00000264709,NM_175629.2;DNMT3A,stop_gained,p.Trp860Ter,ENST00000321117,NM_022552.4;DNMT3A,stop_gained,p.Trp671Ter,ENST00000380746,NM_153759.3;DNMT3A,stop_gained,p.Trp637Ter,ENST00000402667,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000474887,;DNMT3A,downstream_gene_variant,,ENST00000461228,;DNMT3A,downstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000491288,;DNMT3A,3_prime_UTR_variant,,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000466601,;							HIGH	2580/2739	W860*	DNM3A_HUMAN			Transcript			.	ENSP00000264709	8.24E-06	CCDS33157.1			1	
PDE4DIP	0	LGGM	GRCh37	1	145074985	145074985	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	47	3	.	.	ENST00000369345.4:c.309C>T	p.Gly103=	p.G103=	ENST00000369345		103	ggC/ggT	0	1	1	UPI0000237213	0		ENST00000369345		ENSG00000178104	15580		50			HGNC	p.G103G		PDE4DIP		SNV							ENST00000369345	protein_coding					G		A		524/684				Q5TB27_HUMAN				PDE4DIP,synonymous_variant,p.=,ENST00000369345,;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000369348,NM_022359.5;PDE4DIP,intron_variant,,ENST00000528552,;PDE4DIP,intron_variant,,ENST00000533396,;PDE4DIP,intron_variant,,ENST00000527063,;PDE4DIP,intron_variant,,ENST00000526359,;PDE4DIP,intron_variant,,ENST00000528661,;							LOW	309/330					Transcript			.	ENSP00000358351					1	
POM121L2	0	LGGM	GRCh37	6	27277273	27277273	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	38	3	.	.	ENST00000444565.1:c.2677G>T	p.Gly893Ter	p.G893*	ENST00000444565	NM_033482.3	893	Gga/Tga	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		41	0		HGNC	p.G829X		POM121L2		SNV							ENST00000377451	protein_coding	getma.org/?cm=var&var=hg19,6,27277273,C,A&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		G/*		A	NA	2677/3108		NA		C9J1I7_HUMAN			YES	POM121L2,stop_gained,p.Gly893Ter,ENST00000444565,NM_033482.3;POM121L2,stop_gained,p.Gly829Ter,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;							HIGH	2677/3108	G829*				Transcript			.	ENSP00000392726		CCDS59497.1			1	
NPY1R	0	LGGM	GRCh37	4	164247160	164247160	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	26	3	.	.	ENST00000296533.2:c.547C>T	p.Pro183Ser	p.P183S	ENST00000296533	NM_000909.5	183	Ccg/Tcg	0	1	1	UPI000002D509	0	getma.org/pdb.php?prot=NPY1R_HUMAN&from=57&to=320&var=P183S	ENST00000296533		ENSG00000164128	7956		29	2.595		HGNC	p.P5S		NPY1R		SNV							ENST00000512819	protein_coding	getma.org/?cm=var&var=hg19,4,164247160,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01013,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF214,Superfamily_domains:SSF81321		P/S		A	medium	1079/3029		getma.org/?cm=msa&ty=f&p=NPY1R_HUMAN&rb=57&re=320&var=P183S	tolerated(0.06)	D6RI97_HUMAN,D6RHH6_HUMAN,D6REY0_HUMAN,D6RC44_HUMAN,D6R9D0_HUMAN,B4DKL9_HUMAN			YES	NPY1R,missense_variant,p.Pro183Ser,ENST00000296533,NM_000909.5;NPY1R,missense_variant,p.Pro5Ser,ENST00000512819,;NPY1R,intron_variant,,ENST00000509586,;NPY1R,intron_variant,,ENST00000504391,;NPY1R,downstream_gene_variant,,ENST00000515701,;NPY1R,downstream_gene_variant,,ENST00000511901,;NPY1R,downstream_gene_variant,,ENST00000504790,;							MODERATE	547/1155	P183S	NPY1R_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000354652		CCDS34089.1			1	
CHD9	0	LGGM	GRCh37	16	53301838	53301838	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	36	4	.	.	ENST00000566029.1:c.4518-1G>A		p.X1506_splice	ENST00000566029				0	1		UPI0000E02AC8	0		ENST00000398510		ENSG00000177200	25701		40			HGNC	-		CHD9		SNV							ENST00000447540	protein_coding							A		-/11337				H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,splice_acceptor_variant,,ENST00000566029,;CHD9,splice_acceptor_variant,,ENST00000564845,;CHD9,splice_acceptor_variant,,ENST00000447540,NM_025134.4;CHD9,splice_acceptor_variant,,ENST00000398510,;CHD9,splice_acceptor_variant,,ENST00000565803,;CHD9,splice_acceptor_variant,,ENST00000219084,;							HIGH	4518/8694		CHD9_HUMAN			Transcript			.	ENSP00000381522					1	
NR1D1	0	LGGM	GRCh37	17	38251338	38251338	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	17	4	.	.	ENST00000246672.3:c.1284T>G	p.Ser428Arg	p.S428R	ENST00000246672	NM_021724.4	428	agT/agG	0	1	1	UPI00001304C4	0	getma.org/pdb.php?prot=NR1D1_HUMAN&from=422&to=611&var=S428R	ENST00000246672		ENSG00000126368	7962		21	0.55		HGNC	p.S428R		NR1D1		SNV							ENST00000246672	protein_coding	getma.org/?cm=var&var=hg19,17,38251338,A,C&fts=all		hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF113,Superfamily_domains:SSF48508		S/R		C	neutral	1915/2772		getma.org/?cm=msa&ty=f&p=NR1D1_HUMAN&rb=422&re=611&var=S428R	deleterious(0.02)	F1D8S3_HUMAN,B4DTC7_HUMAN			YES	NR1D1,missense_variant,p.Ser428Arg,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;							MODERATE	1284/1845	S428R	NR1D1_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000246672		CCDS11361.1			1	
PLXNA4	0	LGGM	GRCh37	7	131833353	131833353	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	17	4	.	.	ENST00000359827.3:c.4713C>T	p.Thr1571=	p.T1571=	ENST00000359827		1571	acC/acT	0	1		UPI000004E55B	0		ENST00000321063		ENSG00000221866	9102		21			HGNC	p.T1571T		PLXNA4		SNV							ENST00000359827	protein_coding			hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Gene3D:3.10.20.90,Pfam_domain:PF08337		T		A		4942/13061								PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;PLXNA4,upstream_gene_variant,,ENST00000496550,;							LOW	4713/5685		PLXA4_HUMAN			Transcript			.	ENSP00000323194		CCDS43646.1			1	
DNASE2B	0	LGGM	GRCh37	1	84880245	84880245	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	12	4	.	.	ENST00000370665.3:c.780G>T	p.Lys260Asn	p.K260N	ENST00000370665	NM_021233.2	260	aaG/aaT	0	1	1	UPI000006DA43	0	NA	ENST00000370665		ENSG00000137976	28875		16	2.16		HGNC	p.K260N		DNASE2B		SNV							ENST00000370665	protein_coding	getma.org/?cm=var&var=hg19,1,84880245,G,T&fts=all		Pfam_domain:PF03265,hmmpanther:PTHR10858,hmmpanther:PTHR10858:SF2		K/N		T	medium	813/1269		getma.org/?cm=msa&ty=f&p=DNS2B_HUMAN&rb=30&re=360&var=K260N	tolerated(0.09)	Q66K39_HUMAN			YES	DNASE2B,missense_variant,p.Lys260Asn,ENST00000370665,NM_021233.2;DNASE2B,missense_variant,p.Lys52Asn,ENST00000370662,NM_058248.1;							MODERATE	780/1086	K260N	DNS2B_HUMAN			Transcript		possibly_damaging(0.516)	.	ENSP00000359699		CCDS44167.1			1	
RP1	0	LGGM	GRCh37	8	55538648	55538648	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	19	4	.	.	ENST00000220676.1:c.2206A>G	p.Thr736Ala	p.T736A	ENST00000220676	NM_006269.1	736	Act/Gct	0	1	1	UPI000013455B	0	NA	ENST00000220676		ENSG00000104237	10263		23	0.55		HGNC	p.T736A		RP1		SNV			1				ENST00000220676	protein_coding	getma.org/?cm=var&var=hg19,8,55538648,A,G&fts=all		hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		T/A		G	neutral	2354/7100		getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=694&re=754&var=T736A	tolerated(0.42)	A0FDN2_HUMAN			YES	RP1,missense_variant,p.Thr736Ala,ENST00000220676,NM_006269.1;							MODERATE	2206/6471	T736A	RP1_HUMAN			Transcript		benign(0.022)	.	ENSP00000220676		CCDS6160.1			1	
RLTPR	0	LGGM	GRCh37	16	67686396	67686396	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	8	4	.	.	ENST00000334583.6:c.2839T>C	p.Trp947Arg	p.W947R	ENST00000334583	NM_001013838.1	947	Tgg/Cgg	0	1	1	UPI00005194F2	0	NA	ENST00000334583		ENSG00000159753	27089		12	1.39		HGNC	p.W947R		RLTPR		SNV							ENST00000334583	protein_coding	getma.org/?cm=var&var=hg19,16,67686396,T,C&fts=all		hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41		W/R		C	low	3167/4687		getma.org/?cm=msa&ty=f&p=LR16C_HUMAN&rb=832&re=1031&var=W947R	tolerated(0.47)				YES	RLTPR,missense_variant,p.Trp947Arg,ENST00000334583,NM_001013838.1;RLTPR,missense_variant,p.Trp911Arg,ENST00000545661,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602321,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602931,;RLTPR,downstream_gene_variant,,ENST00000602563,;RLTPR,upstream_gene_variant,,ENST00000602368,;RLTPR,downstream_gene_variant,,ENST00000602562,;RLTPR,downstream_gene_variant,,ENST00000602633,;RLTPR,upstream_gene_variant,,ENST00000602705,;RLTPR,downstream_gene_variant,,ENST00000602742,;RLTPR,upstream_gene_variant,,ENST00000602924,;							MODERATE	2839/4308	W947R	LR16C_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000334958		CCDS45513.1			1	
DDR2	0	LGGM	GRCh37	1	162745524	162745524	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	83	4	.	.	ENST00000367921.3:c.1939G>C	p.Asp647His	p.D647H	ENST00000367921	NM_006182.2	647	Gat/Cat	0	1		UPI000013E1B4	0	getma.org/pdb.php?prot=DDR2_HUMAN&from=563&to=849&var=D647H	ENST00000367921		ENSG00000162733	2731		87	0.755		HGNC	p.D647H		DDR2		SNV			1				ENST00000367921	protein_coding	getma.org/?cm=var&var=hg19,1,162745524,G,C&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF297,SMART_domains:SM00219,Superfamily_domains:SSF56112		D/H		C	neutral	2292/3096		getma.org/?cm=msa&ty=f&p=DDR2_HUMAN&rb=563&re=849&var=D647H	deleterious(0.01)	Q5T245_HUMAN,Q5T244_HUMAN				DDR2,missense_variant,p.Asp647His,ENST00000367922,NM_001014796.1;DDR2,missense_variant,p.Asp647His,ENST00000367921,NM_006182.2;DDR2,downstream_gene_variant,,ENST00000433757,;DDR2,downstream_gene_variant,,ENST00000458105,;RN7SL861P,upstream_gene_variant,,ENST00000473793,;							MODERATE	1939/2568	D647H	DDR2_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000356898		CCDS1241.1			1	
PLXNA4	0	LGGM	GRCh37	7	131833352	131833352	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	17	4	.	.	ENST00000359827.3:c.4714A>T	p.Thr1572Ser	p.T1572S	ENST00000359827		1572	Acc/Tcc	0	1		UPI000004E55B	0	getma.org/pdb.php?prot=PLXA4_HUMAN&from=1310&to=1864&var=T1572S	ENST00000321063		ENSG00000221866	9102		21	0.865		HGNC	p.T1572S		PLXNA4		SNV							ENST00000359827	protein_coding	getma.org/?cm=var&var=hg19,7,131833352,T,A&fts=all		hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Gene3D:3.10.20.90,Pfam_domain:PF08337		T/S		A	low	4943/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=1310&re=1864&var=T1572S	tolerated(0.21)					PLXNA4,missense_variant,p.Thr1572Ser,ENST00000359827,;PLXNA4,missense_variant,p.Thr1572Ser,ENST00000321063,NM_020911.1;PLXNA4,upstream_gene_variant,,ENST00000496550,;							MODERATE	4714/5685	T1572S	PLXA4_HUMAN			Transcript		benign(0.078)	.	ENSP00000323194		CCDS43646.1			1	
PPARD	0	LGGM	GRCh37	6	35392430	35392430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	10	4	.	.	ENST00000311565.4:c.952C>T	p.Arg318Cys	p.R318C	ENST00000311565	NM_001171818.1	318	Cgc/Tgc	0	1	1	UPI000004EF98	0	getma.org/pdb.php?prot=PPARD_HUMAN&from=230&to=427&var=R318C	ENST00000311565		ENSG00000112033	9235		14	1.545		HGNC	p.R279C	rs750529579,COSM1444008	PPARD		SNV						0,1	ENST00000448077	protein_coding	getma.org/?cm=var&var=hg19,6,35392430,C,T&fts=all		hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF15,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR01288		R/C		T	low	1301/3774	1.50E-05	getma.org/?cm=msa&ty=f&p=PPARD_HUMAN&rb=230&re=427&var=R318C	deleterious(0)	F5H830_HUMAN			YES	PPARD,missense_variant,p.Arg318Cys,ENST00000311565,NM_001171818.1;PPARD,missense_variant,p.Arg318Cys,ENST00000360694,NM_006238.4;PPARD,missense_variant,p.Arg279Cys,ENST00000448077,NM_001171819.1;PPARD,missense_variant,p.Arg220Cys,ENST00000418635,NM_001171820.1;PPARD,missense_variant,p.Arg318Cys,ENST00000337400,;PPARD,missense_variant,p.Arg318Cys,ENST00000444397,NM_177435.2;PPARD,missense_variant,p.Arg215Cys,ENST00000540939,;					0,1		MODERATE	952/1326	R318C	PPARD_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000310928	8.24E-06	CCDS4803.1			1	
INTS2	0	LGGM	GRCh37	17	59967197	59967197	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	64	5	.	.	ENST00000444766.3:c.1958A>T	p.Tyr653Phe	p.Y653F	ENST00000444766	NM_020748.2	653	tAc/tTc	0	1	1	UPI0000E5A03A	0	NA	ENST00000444766		ENSG00000108506	29241		69	1.955		HGNC	p.Y653F		INTS2		SNV							ENST00000444766	protein_coding	getma.org/?cm=var&var=hg19,17,59967197,T,A&fts=all		Pfam_domain:PF14750		Y/F		A	medium	2034/5878		getma.org/?cm=msa&ty=f&p=INT2_HUMAN&rb=6&re=1202&var=Y653F	deleterious(0.02)	J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,missense_variant,p.Tyr653Phe,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Tyr645Phe,ENST00000251334,;INTS2,upstream_gene_variant,,ENST00000583822,;INTS2,upstream_gene_variant,,ENST00000584967,;INTS2,downstream_gene_variant,,ENST00000578805,;							MODERATE	1958/3615	Y653F	INT2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000414237		CCDS45750.1			1	
FAM179B	0	LGGM	GRCh37	14	45521767	45521767	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	7	6	.	.	ENST00000361577.3:c.4281+2T>A		p.X1427_splice	ENST00000361577	NM_015091.2			0	1	1	UPI00001C1F79	0		ENST00000361577		ENSG00000198718	19959		13			HGNC	-		FAM179B		SNV							ENST00000361577	protein_coding							A		-/6247							YES	FAM179B,splice_donor_variant,,ENST00000361462,;FAM179B,splice_donor_variant,,ENST00000361577,NM_015091.2;FAM179B,splice_donor_variant,,ENST00000382233,;FAM179B,splice_donor_variant,,ENST00000557423,;							HIGH	4281/5163		F179B_HUMAN			Transcript			.	ENSP00000355045		CCDS9681.1			1	
WDR60	0	LGGM	GRCh37	7	158734806	158734806	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	12	6	.	.	ENST00000407559.3:c.2969G>T	p.Gly990Val	p.G990V	ENST00000407559	NM_018051.4	990	gGt/gTt	0	1	1	UPI000020E761	0	NA	ENST00000407559		ENSG00000126870	21862		18	1.825		HGNC	p.G120V		WDR60		SNV			1				ENST00000454771	protein_coding	getma.org/?cm=var&var=hg19,7,158734806,G,T&fts=all		hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30		G/V		T	low	3127/3769		getma.org/?cm=msa&ty=f&p=WDR60_HUMAN&rb=939&re=1066&var=G990V	tolerated(0.52)	H7C1E8_HUMAN,A4D230_HUMAN			YES	WDR60,missense_variant,p.Gly990Val,ENST00000407559,NM_018051.4;WDR60,missense_variant,p.Gly120Val,ENST00000454771,;WDR60,3_prime_UTR_variant,,ENST00000444851,;WDR60,non_coding_transcript_exon_variant,,ENST00000467220,;							MODERATE	2969/3201	G990V	WDR60_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000384290		CCDS47757.1			1	
KCNH7	0	LGGM	GRCh37	2	163236448	163236448	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	32	7	.	.	ENST00000332142.5:c.3046G>A	p.Ala1016Thr	p.A1016T	ENST00000332142	NM_033272.3	1016	Gcc/Acc	0	1	1	UPI0000167D11	0	NA	ENST00000332142		ENSG00000184611	18863		39	-0.55		HGNC	p.A1016T		KCNH7		SNV							ENST00000332142	protein_coding	getma.org/?cm=var&var=hg19,2,163236448,C,T&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466		A/T		T	neutral	3146/4113		getma.org/?cm=msa&ty=f&p=KCNH7_HUMAN&rb=851&re=1029&var=A1016T	tolerated(0.53)				YES	KCNH7,missense_variant,p.Ala1016Thr,ENST00000332142,NM_033272.3;							MODERATE	3046/3591	A1016T	KCNH7_HUMAN			Transcript		benign(0)	.	ENSP00000331727		CCDS2219.1			1	
COPS5	0	LGGM	GRCh37	8	67970412	67970412	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	35	7	.	.	ENST00000357849.4:c.413A>G	p.His138Arg	p.H138R	ENST00000357849	NM_006837.2	138	cAt/cGt	0	1	1	UPI000006D7AB	0	getma.org/pdb.php?prot=CSN5_HUMAN&from=50&to=164&var=H138R	ENST00000357849		ENSG00000121022	2240		42	4.025		HGNC	p.H138R		COPS5		SNV							ENST00000357849	protein_coding	getma.org/?cm=var&var=hg19,8,67970412,T,C&fts=all		Superfamily_domains:0048572,Gene3D:3.40.140.10,Pfam_domain:PF01398,hmmpanther:PTHR10410,hmmpanther:PTHR10410:SF6,SMART_domains:SM00232		H/R		C	high	734/1480		getma.org/?cm=msa&ty=f&p=CSN5_HUMAN&rb=50&re=164&var=H138R	deleterious(0)	E5RHF2_HUMAN			YES	COPS5,missense_variant,p.His74Arg,ENST00000517736,;COPS5,missense_variant,p.His138Arg,ENST00000357849,NM_006837.2;COPS5,missense_variant,p.His74Arg,ENST00000518747,;CSPP1,upstream_gene_variant,,ENST00000521919,;AC109335.1,upstream_gene_variant,,ENST00000578628,;COPS5,non_coding_transcript_exon_variant,,ENST00000517793,;COPS5,downstream_gene_variant,,ENST00000519963,;COPS5,upstream_gene_variant,,ENST00000523086,;PPP1R42,upstream_gene_variant,,ENST00000517834,;COPS5,downstream_gene_variant,,ENST00000519057,;COPS5,downstream_gene_variant,,ENST00000518768,;COPS5,3_prime_UTR_variant,,ENST00000518374,;COPS5,3_prime_UTR_variant,,ENST00000523890,;COPS5,non_coding_transcript_exon_variant,,ENST00000521386,;COPS5,non_coding_transcript_exon_variant,,ENST00000521509,;COPS5,downstream_gene_variant,,ENST00000517406,;							MODERATE	413/1005	H138R	CSN5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000350512		CCDS6198.1			1	
KIF6	0	LGGM	GRCh37	6	39563983	39563983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	12	7	.	.	ENST00000287152.7:c.693G>T	p.Leu231Phe	p.L231F	ENST00000287152	NM_145027.4	231	ttG/ttT	0	1	1	UPI0000457436	0	getma.org/pdb.php?prot=KIF6_HUMAN&from=11&to=345&var=L231F	ENST00000287152		ENSG00000164627	21202		19	1.48		HGNC	p.L231F		KIF6		SNV							ENST00000373215	protein_coding	getma.org/?cm=var&var=hg19,6,39563983,C,A&fts=all		Prints_domain:PR00380,Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115,PROSITE_profiles:PS50067		L/F		A	low	788/9082		getma.org/?cm=msa&ty=f&p=KIF6_HUMAN&rb=11&re=345&var=L231F	deleterious(0)				YES	KIF6,missense_variant,p.Leu231Phe,ENST00000287152,NM_145027.4;KIF6,missense_variant,p.Leu123Phe,ENST00000458470,;KIF6,missense_variant,p.Leu231Phe,ENST00000373216,;KIF6,missense_variant,p.Leu70Phe,ENST00000373213,;KIF6,missense_variant,p.Leu231Phe,ENST00000373215,;KIF6,missense_variant,p.Leu231Phe,ENST00000538893,;KIF6,missense_variant,p.Leu18Phe,ENST00000441975,;							MODERATE	693/2445	L231F	KIF6_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000287152		CCDS4844.1			1	
EFCAB6	0	LGGM	GRCh37	22	43986067	43986067	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	32	7	.	.	ENST00000262726.7:c.2919C>T	p.Phe973=	p.F973=	ENST00000262726	NM_022785.3	973	ttC/ttT	0	1	1	UPI0000225CD7	0		ENST00000262726		ENSG00000186976	24204		39			HGNC	p.F821F		EFCAB6		SNV							ENST00000396231	protein_coding			Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF220,Superfamily_domains:SSF47473		F		A		3173/4869							YES	EFCAB6,synonymous_variant,p.=,ENST00000262726,NM_022785.3;EFCAB6,synonymous_variant,p.=,ENST00000396231,NM_198856.2;EFCAB6,non_coding_transcript_exon_variant,,ENST00000468552,;							LOW	2919/4506		EFCB6_HUMAN			Transcript			.	ENSP00000262726		CCDS14049.1			1	
CLDN8	0	LGGM	GRCh37	21	31587825	31587825	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	2	7	.	.	ENST00000399899.1:c.419T>C	p.Val140Ala	p.V140A	ENST00000399899	NM_199328.2	140	gTt/gCt	0	1	1	UPI00000389FD	0	NA	ENST00000399899		ENSG00000156284	2050		9	2.055		HGNC	p.V140A		CLDN8		SNV							ENST00000286809	protein_coding	getma.org/?cm=var&var=hg19,21,31587825,A,G&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF00822,hmmpanther:PTHR12002:SF24,hmmpanther:PTHR12002		V/A		G	medium	567/2068		getma.org/?cm=msa&ty=f&p=CLD8_HUMAN&rb=4&re=182&var=V140A	deleterious(0.02)				YES	CLDN8,missense_variant,p.Val140Ala,ENST00000399899,NM_199328.2;CLDN8,missense_variant,p.Val140Ala,ENST00000286809,;LINC00307,upstream_gene_variant,,ENST00000451410,;							MODERATE	419/678	V140A	CLD8_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000382783		CCDS13587.1			1	
CD84	0	LGGM	GRCh37	1	160549210	160549210	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	16	8	.	.	ENST00000311224.4:c.18A>T	p.Leu6=	p.L6=	ENST00000311224	NM_001184879.1	6	ctA/ctT	0	1	1	UPI0000071B5F	0		ENST00000311224		ENSG00000066294	1704		24			HGNC	p.L6L		CD84		SNV							ENST00000534968	protein_coding			hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF44,Cleavage_site_(Signalp):SignalP-noTM		L		A		85/1116							YES	CD84,synonymous_variant,p.=,ENST00000368054,NM_003874.3;CD84,synonymous_variant,p.=,ENST00000534968,NM_001184882.1;CD84,synonymous_variant,p.=,ENST00000311224,NM_001184879.1;CD84,synonymous_variant,p.=,ENST00000368048,;CD84,synonymous_variant,p.=,ENST00000368051,NM_001184881.1;CD84,non_coding_transcript_exon_variant,,ENST00000368047,;CD84,non_coding_transcript_exon_variant,,ENST00000360056,;							LOW	18/1038		SLAF5_HUMAN			Transcript			.	ENSP00000312367		CCDS53396.1			1	
GALNT6	0	LGGM	GRCh37	12	51759262	51759262	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	11	8	.	.	ENST00000543196.2:c.766G>C	p.Gly256Arg	p.G256R	ENST00000543196		256	Ggg/Cgg	0	1		UPI000013D726	0	getma.org/pdb.php?prot=GALT6_HUMAN&from=180&to=370&var=G256R	ENST00000356317		ENSG00000139629	4128		19	4.96		HGNC	p.G256R		GALNT6		SNV							ENST00000356317	protein_coding	getma.org/?cm=var&var=hg19,12,51759262,C,G&fts=all		hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		G/R		G	high	1080/2809		getma.org/?cm=msa&ty=f&p=GALT6_HUMAN&rb=180&re=370&var=G256R	deleterious(0)	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN				GALNT6,missense_variant,p.Gly256Arg,ENST00000543196,;GALNT6,missense_variant,p.Gly256Arg,ENST00000356317,NM_007210.3;GALNT6,missense_variant,p.Gly256Arg,ENST00000603641,;							MODERATE	766/1869	G256R	GALT6_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000348668		CCDS8813.1			1	
DDIT4L	0	LGGM	GRCh37	4	101109093	101109093	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	19	8	.	.	ENST00000273990.2:c.323T>C	p.Met108Thr	p.M108T	ENST00000273990	NM_145244.3	108	aTg/aCg	0	1	1	UPI000004919B	0	getma.org/pdb.php?prot=DDT4L_HUMAN&from=65&to=183&var=M108T	ENST00000273990		ENSG00000145358	30555		27	0		HGNC	p.M108T	rs371837784	DDIT4L		SNV	G:0.0002						ENST00000513992	protein_coding	getma.org/?cm=var&var=hg19,4,101109093,A,G&fts=all		hmmpanther:PTHR12478:SF17,hmmpanther:PTHR12478,Pfam_domain:PF07809		M/T	G:0	G	neutral	538/2604		getma.org/?cm=msa&ty=f&p=DDT4L_HUMAN&rb=65&re=183&var=M108T	deleterious(0)	D6RJ99_HUMAN,D6RD49_HUMAN			YES	DDIT4L,missense_variant,p.Met108Thr,ENST00000273990,NM_145244.3;DDIT4L,missense_variant,p.Met108Thr,ENST00000502763,;DDIT4L,missense_variant,p.Met108Thr,ENST00000513992,;RP11-15B17.1,intron_variant,,ENST00000515026,;RP11-588P8.1,upstream_gene_variant,,ENST00000515782,;							MODERATE	323/582	M108T	DDT4L_HUMAN			Transcript		benign(0.034)	.	ENSP00000354830		CCDS34036.1			1	
MASTL	0	LGGM	GRCh37	10	27469907	27469907	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	14	8	.	.	ENST00000375940.4:c.2292T>A	p.Leu764=	p.L764=	ENST00000375940		764	ctT/ctA	0	1	1	UPI000004060D	0		ENST00000375940		ENSG00000120539	19042		22			HGNC	p.L764L		MASTL		SNV			1				ENST00000375940	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24356,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		L		A		2349/3080							YES	MASTL,synonymous_variant,p.=,ENST00000375946,NM_001172303.1,NM_032844.3;MASTL,synonymous_variant,p.=,ENST00000375940,;MASTL,intron_variant,,ENST00000342386,NM_001172304.1;MASTL,intron_variant,,ENST00000477034,;							LOW	2292/2640		GWL_HUMAN			Transcript			.	ENSP00000365107		CCDS53502.1			1	
BTN3A3	0	LGGM	GRCh37	6	26452568	26452568	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	11	9	.	.	ENST00000244519.2:c.1684G>A	p.Ala562Thr	p.A562T	ENST00000244519	NM_006994.4	562	Gct/Act	0	1	1	UPI00000480EF	0	NA	ENST00000244519		ENSG00000111801	1140		20	0.695		HGNC	p.A562T		BTN3A3		SNV							ENST00000244519	protein_coding	getma.org/?cm=var&var=hg19,6,26452568,G,A&fts=all				A/T		A	neutral	1927/3002		getma.org/?cm=msa&ty=f&p=BT3A3_HUMAN&rb=514&re=584&var=A562T	tolerated(0.14)	D0FY33_HUMAN,C9JUV8_HUMAN,C9JQT8_HUMAN,C9JNZ3_HUMAN,C9J877_HUMAN,C9J3Q8_HUMAN			YES	BTN3A3,missense_variant,p.Ala562Thr,ENST00000244519,NM_006994.4;BTN3A3,missense_variant,p.Ala520Thr,ENST00000339789,;BTN3A3,missense_variant,p.Ala513Thr,ENST00000361232,NM_197974.2;BTN3A3,downstream_gene_variant,,ENST00000487272,;BTN3A3,downstream_gene_variant,,ENST00000490254,;BTN3A3,non_coding_transcript_exon_variant,,ENST00000480110,;BTN3A3,downstream_gene_variant,,ENST00000483179,;BTN3A3,downstream_gene_variant,,ENST00000477388,;BTN3A3,downstream_gene_variant,,ENST00000497681,;							MODERATE	1684/1755	A562T	BT3A3_HUMAN			Transcript		benign(0.039)	.	ENSP00000244519		CCDS4611.1			1	
SLC13A4	0	LGGM	GRCh37	7	135378973	135378973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	21	9	.	.	ENST00000354042.4:c.1030T>A	p.Cys344Ser	p.C344S	ENST00000354042	NM_012450.2	344	Tgc/Agc	0	1	1	UPI00000343D9	0	NA	ENST00000354042		ENSG00000164707	15827		30	0.75		HGNC	p.C344S		SLC13A4		SNV							ENST00000354042	protein_coding	getma.org/?cm=var&var=hg19,7,135378973,A,T&fts=all		Pfam_domain:PF00939,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF63		C/S		T	neutral	1720/2897		getma.org/?cm=msa&ty=f&p=S13A4_HUMAN&rb=6&re=610&var=C344S	tolerated(0.13)				YES	SLC13A4,missense_variant,p.Cys344Ser,ENST00000354042,NM_012450.2;C7orf73,downstream_gene_variant,,ENST00000422968,;C7orf73,downstream_gene_variant,,ENST00000509448,;SLC13A4,non_coding_transcript_exon_variant,,ENST00000471405,;							MODERATE	1030/1881	C344S	S13A4_HUMAN			Transcript		benign(0.137)	.	ENSP00000297282		CCDS5840.1			1	
SLC5A7	0	LGGM	GRCh37	2	108622513	108622513	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	18	9	.	.	ENST00000264047.2:c.750T>A	p.Gly250=	p.G250=	ENST00000264047	NM_021815.2	250	ggT/ggA	0	1	1	UPI0000070792	0		ENST00000264047		ENSG00000115665	14025		27			HGNC	p.G250G		SLC5A7		SNV			1				ENST00000409059	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129,Pfam_domain:PF00474		G		A		1026/5152				Q2T9H3_HUMAN,F5H382_HUMAN			YES	SLC5A7,synonymous_variant,p.=,ENST00000264047,NM_021815.2;SLC5A7,synonymous_variant,p.=,ENST00000409059,;SLC5A7,synonymous_variant,p.=,ENST00000540517,;							LOW	750/1743		SC5A7_HUMAN			Transcript			.	ENSP00000264047		CCDS2074.1			1	
GNPAT	0	LGGM	GRCh37	1	231403559	231403559	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	35	9	.	.	ENST00000366647.4:c.1189C>T	p.Arg397Trp	p.R397W	ENST00000366647	NM_014236.3	397	Cgg/Tgg	0	1	1	UPI0000000A2A	0	NA	ENST00000366647		ENSG00000116906	4416		44	1.905		HGNC	p.R387W	rs569550123,COSM3966350	GNPAT	0.000242	SNV			1			0,1	ENST00000416000	protein_coding	getma.org/?cm=var&var=hg19,1,231403559,C,T&fts=all	T:0	PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500063,hmmpanther:PTHR12563:SF9,hmmpanther:PTHR12563		R/W		T	medium	1358/2643		getma.org/?cm=msa&ty=f&p=GNPAT_HUMAN&rb=284&re=483&var=R397W	deleterious(0.03)	Q71V38_HUMAN	T:0	T:0	YES	GNPAT,missense_variant,p.Arg397Trp,ENST00000366647,NM_014236.3;GNPAT,missense_variant,p.Arg336Trp,ENST00000366646,;GNPAT,missense_variant,p.Arg387Trp,ENST00000416000,;GNPAT,downstream_gene_variant,,ENST00000436239,;GNPAT,non_coding_transcript_exon_variant,,ENST00000492459,;		T:0.0002			0,1		MODERATE	1189/2043	R397W	GNPAT_HUMAN		T:0	Transcript		possibly_damaging(0.462)	.	ENSP00000355607	3.29E-05	CCDS1592.1		T:0.001	1	
CAMK4	0	LGGM	GRCh37	5	110782473	110782473	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	23	9	.	.	ENST00000282356.4:c.549C>T	p.Ile183=	p.I183=	ENST00000282356	NM_001744.4	183	atC/atT	0	1	1	UPI000000128E	0		ENST00000282356	not_provided	ENSG00000152495	1464		32			HGNC	p.I183I	rs267600313,COSM3607515	CAMK4		SNV						1,1	ENST00000512453	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF77,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		I		T		947/12240				D6RE65_HUMAN			YES	CAMK4,splice_region_variant,p.=,ENST00000282356,NM_001744.4;CAMK4,splice_region_variant,p.=,ENST00000512453,;CAMK4,splice_region_variant,,ENST00000505763,;CAMK4,splice_region_variant,,ENST00000502916,;CAMK4,splice_region_variant,,ENST00000515231,;CAMK4,splice_region_variant,,ENST00000514007,;CAMK4,splice_region_variant,,ENST00000504544,;					0,1		LOW	549/1422		KCC4_HUMAN			Transcript			.	ENSP00000282356		CCDS4103.1			1	
NDST3	0	LGGM	GRCh37	4	119026244	119026244	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	44	9	.	.	ENST00000296499.5:c.1053G>A	p.Gly351=	p.G351=	ENST00000296499	NM_004784.2	351	ggG/ggA	0	1	1	UPI0000071C44	0		ENST00000296499		ENSG00000164100	7682		53			HGNC	p.G351G		NDST3		SNV							ENST00000296499	protein_coding			Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15		G		A		1456/5961							YES	NDST3,synonymous_variant,p.=,ENST00000296499,NM_004784.2;NDST3,intron_variant,,ENST00000433996,;							LOW	1053/2622		NDST3_HUMAN			Transcript			.	ENSP00000296499		CCDS3708.1			1	
NCAM2	0	LGGM	GRCh37	21	22790842	22790842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	39	10	.	.	ENST00000400546.1:c.1433C>A	p.Thr478Asn	p.T478N	ENST00000400546	NM_004540.3	478	aCt/aAt	0	1	1	UPI00001A3703	0	getma.org/pdb.php?prot=NCAM2_HUMAN&from=401&to=492&var=T478N	ENST00000400546		ENSG00000154654	7657		49	1.705		HGNC	p.T478N		NCAM2		SNV							ENST00000400546	protein_coding	getma.org/?cm=var&var=hg19,21,22790842,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/N		A	low	1682/8135		getma.org/?cm=msa&ty=f&p=NCAM2_HUMAN&rb=401&re=492&var=T478N	tolerated(0.06)	D3DSC5_HUMAN			YES	NCAM2,missense_variant,p.Thr478Asn,ENST00000400546,NM_004540.3;NCAM2,missense_variant,p.Thr336Asn,ENST00000284894,;							MODERATE	1433/2514	T478N	NCAM2_HUMAN			Transcript		possibly_damaging(0.835)	.	ENSP00000383392		CCDS42910.1			1	
GABRA2	0	LGGM	GRCh37	4	46263993	46263993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	23	10	.	.	ENST00000510861.1:c.1009T>C	p.Phe337Leu	p.F337L	ENST00000510861		337	Ttc/Ctc	0	1		UPI000013DC88	0	getma.org/pdb.php?prot=GBRA2_HUMAN&from=257&to=354&var=F337L	ENST00000356504		ENSG00000151834	4076		33	0.105		HGNC	p.F337L		GABRA2		SNV			1				ENST00000515082	protein_coding	getma.org/?cm=var&var=hg19,4,46263993,A,G&fts=all		Gene3D:1.20.58.390,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		F/L		G	neutral	1682/2770		getma.org/?cm=msa&ty=f&p=GBRA2_HUMAN&rb=257&re=354&var=F337L	tolerated(0.07)	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN				GABRA2,missense_variant,p.Phe337Leu,ENST00000510861,;GABRA2,missense_variant,p.Phe337Leu,ENST00000514090,;GABRA2,missense_variant,p.Phe337Leu,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Phe337Leu,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Phe337Leu,ENST00000515082,;GABRA2,missense_variant,p.Phe282Leu,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Phe337Leu,ENST00000507069,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,3_prime_UTR_variant,,ENST00000513005,;							MODERATE	1009/1356	F337L	GBRA2_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000348897		CCDS3471.1			1	
CDH6	0	LGGM	GRCh37	5	31323106	31323106	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	18	10	.	.	ENST00000265071.2:c.2064A>C	p.Leu688Phe	p.L688F	ENST00000265071	NM_004932.3	688	ttA/ttC	0	1	1	UPI0000126D9B	0	NA	ENST00000265071		ENSG00000113361	1765		28	1.4		HGNC	p.L688F		CDH6		SNV							ENST00000265071	protein_coding	getma.org/?cm=var&var=hg19,5,31323106,A,C&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027		L/F		C	low	2329/8476		getma.org/?cm=msa&ty=f&p=CADH6_HUMAN&rb=637&re=784&var=L688F	tolerated(0.7)				YES	CDH6,missense_variant,p.Leu688Phe,ENST00000265071,NM_004932.3;CDH6,downstream_gene_variant,,ENST00000514738,;CDH6,downstream_gene_variant,,ENST00000504835,;							MODERATE	2064/2373	L688F	CADH6_HUMAN			Transcript		benign(0.019)	.	ENSP00000265071		CCDS3894.1			1	
GDPD2	0	LGGM	GRCh37	X	69652237	69652237	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	9	10	.	.	ENST00000453994.2:c.1541G>A	p.Gly514Glu	p.G514E	ENST00000453994	NM_001171192.1	514	gGg/gAg	0	1		UPI000004C627	0	getma.org/pdb.php?prot=GDPD2_HUMAN&from=229&to=474&var=G463E	ENST00000374382		ENSG00000130055	25974		19	2.92		HGNC	p.G514E		GDPD2		SNV							ENST00000453994	protein_coding	getma.org/?cm=var&var=hg19,X,69652237,G,A&fts=all		Gene3D:3.20.20.190,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF1,Superfamily_domains:SSF51695		G/E		A	medium	1639/2169		getma.org/?cm=msa&ty=f&p=GDPD2_HUMAN&rb=229&re=474&var=G463E	deleterious(0.01)					GDPD2,missense_variant,p.Gly514Glu,ENST00000453994,NM_001171192.1;GDPD2,missense_variant,p.Gly384Glu,ENST00000536730,NM_001171193.1;GDPD2,missense_variant,p.Gly463Glu,ENST00000374382,NM_017711.3;GDPD2,missense_variant,p.Gly384Glu,ENST00000538649,NM_001171191.1;GDPD2,non_coding_transcript_exon_variant,,ENST00000472623,;							MODERATE	1388/1620	G463E	GDPD2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000363503		CCDS14402.1			1	
SEC24A	0	LGGM	GRCh37	5	133997149	133997149	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	20	10	.	.	ENST00000398844.2:c.438C>G	p.Ala146=	p.A146=	ENST00000398844	NM_021982.2	146	gcC/gcG	0	1	1	UPI0000185FF9	0		ENST00000398844		ENSG00000113615	10703		30			HGNC	p.A146A		SEC24A		SNV							ENST00000398844	protein_coding			hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1		A		G		726/6299							YES	SEC24A,synonymous_variant,p.=,ENST00000398844,NM_021982.2;SEC24A,synonymous_variant,p.=,ENST00000322887,NM_001252231.1;							LOW	438/3282		SC24A_HUMAN			Transcript			.	ENSP00000381823		CCDS43363.1			1	
TBC1D30	0	LGGM	GRCh37	12	65269331	65269331	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	31	11	.	.	ENST00000539867.1:c.2049A>G	p.Pro683=	p.P683=	ENST00000539867	NM_015279.1	683	ccA/ccG	0	1	1	UPI000013F308	0		ENST00000539867		ENSG00000111490	29164		42			HGNC	p.P683P	rs567362909	TBC1D30		SNV							ENST00000539867	protein_coding		G:0			P		G		2357/2594				F8VZ81_HUMAN,F5H7L7_HUMAN	G:0	G:0	YES	TBC1D30,synonymous_variant,p.=,ENST00000542120,;TBC1D30,synonymous_variant,p.=,ENST00000229088,;TBC1D30,synonymous_variant,p.=,ENST00000539867,NM_015279.1;		G:0.0002					LOW	2049/2286		TBC30_HUMAN		G:0	Transcript			.	ENSP00000440207		CCDS53813.1		G:0.001	1	
KANSL1L	0	LGGM	GRCh37	2	211018725	211018725	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	28	11	.	.	ENST00000281772.9:c.582C>T	p.His194=	p.H194=	ENST00000281772	NM_152519.2	194	caC/caT	0	1	1	UPI00002094A9	0		ENST00000281772		ENSG00000144445	26310		39			HGNC	p.H194H		KANSL1L		SNV							ENST00000452086	protein_coding			hmmpanther:PTHR22443,hmmpanther:PTHR22443:SF16		H		A		846/4754							YES	KANSL1L,synonymous_variant,p.=,ENST00000281772,NM_152519.2;KANSL1L,synonymous_variant,p.=,ENST00000418791,;KANSL1L,synonymous_variant,p.=,ENST00000452086,;KANSL1L,synonymous_variant,p.=,ENST00000457374,;KANSL1L,upstream_gene_variant,,ENST00000428655,;KANSL1L,upstream_gene_variant,,ENST00000438563,;KANSL1L,upstream_gene_variant,,ENST00000415553,;KANSL1L,downstream_gene_variant,,ENST00000429908,;KANSL1L,non_coding_transcript_exon_variant,,ENST00000453904,;							LOW	582/2964		KAL1L_HUMAN			Transcript			.	ENSP00000281772		CCDS33370.1			1	
FAM153C	0	LGGM	GRCh37	5	177474063	177474063	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	52	12	.	.	ENST00000507848.1:c.376C>G	p.Pro126Ala	p.P126A	ENST00000507848		126	Ccc/Gcc	0	1	1	UPI000058E068	0		ENST00000507848		ENSG00000204677	33936		64			HGNC	p.P126A		FAM153C		SNV							ENST00000507848	protein_coding			Low_complexity_(Seg):seg		P/A		G		577/1071			deleterious_low_confidence(0.02)	D6RA46_HUMAN			YES	FAM153C,missense_variant,p.Pro126Ala,ENST00000507848,;FAM153C,missense_variant,p.Pro155Ala,ENST00000511189,;FAM153C,3_prime_UTR_variant,,ENST00000398106,;FAM153C,downstream_gene_variant,,ENST00000511856,;FAM153C,upstream_gene_variant,,ENST00000511511,;							MODERATE	376/435		F153C_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000424623					1	
RB1	0	LGGM	GRCh37	13	48936995	48936995	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	10	12	.	.	ENST00000267163.4:c.763C>T	p.Arg255Ter	p.R255*	ENST00000267163	NM_000321.2	255	Cga/Tga	0	1	1	UPI0000001C79	0	NA	ENST00000267163	pathogenic	ENSG00000139687	9884		22	0		HGNC	p.R255*	rs587778842,COSM943	RB1		SNV			1			1,1	ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48936995,C,T&fts=all		hmmpanther:PTHR13742		R/*		T	NA	901/4840		NA		Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,stop_gained,p.Arg255Ter,ENST00000267163,NM_000321.2;RB1,3_prime_UTR_variant,,ENST00000467505,;RB1,downstream_gene_variant,,ENST00000525036,;					0,1		HIGH	763/2787	R255*	RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
DSCAM	0	LGGM	GRCh37	21	41427719	41427719	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	102	13	.	.	ENST00000400454.1:c.4968G>T	p.Leu1656=	p.L1656=	ENST00000400454	NM_001271534.1	1656	ctG/ctT	0	1	1	UPI00000422DF	0		ENST00000400454		ENSG00000171587	3039		115			HGNC	p.L1408L		DSCAM		SNV							ENST00000404019	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16		L		A		5446/8552							YES	DSCAM,synonymous_variant,p.=,ENST00000400454,NM_001271534.1,NM_001389.3;DSCAM,synonymous_variant,p.=,ENST00000404019,;							LOW	4968/6039		DSCAM_HUMAN			Transcript			.	ENSP00000383303		CCDS42929.1			1	
ADH5	0	LGGM	GRCh37	4	99996081	99996081	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	76	13	.	.	ENST00000296412.8:c.945A>C	p.Lys315Asn	p.K315N	ENST00000296412	NM_000671.3	315	aaA/aaC	0	1	1	UPI0000000DE6	0	getma.org/pdb.php?prot=ADHX_HUMAN&from=202&to=336&var=K315N	ENST00000296412		ENSG00000197894	253		89	3.53		HGNC	p.K315N		ADH5		SNV							ENST00000296412	protein_coding	getma.org/?cm=var&var=hg19,4,99996081,T,G&fts=all		Pfam_domain:PF00107,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF396,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR02818		K/N		G	high	996/2612		getma.org/?cm=msa&ty=f&p=ADHX_HUMAN&rb=202&re=336&var=K315N	deleterious(0.04)	Q6IRT1_HUMAN,D6RFE4_HUMAN			YES	ADH5,missense_variant,p.Lys315Asn,ENST00000296412,NM_000671.3;ADH5,downstream_gene_variant,,ENST00000503130,;ADH5,downstream_gene_variant,,ENST00000512991,;ADH5,downstream_gene_variant,,ENST00000512604,;ADH5,3_prime_UTR_variant,,ENST00000512659,;ADH5,non_coding_transcript_exon_variant,,ENST00000512621,;ADH5,downstream_gene_variant,,ENST00000508511,;ADH5,downstream_gene_variant,,ENST00000502590,;ADH5,downstream_gene_variant,,ENST00000505652,;							MODERATE	945/1125	K315N	ADHX_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000296412		CCDS47111.1			1	
PRSS1	0	LGGM	GRCh37	7	142460333	142460333	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	181	14	.	.	ENST00000311737.7:c.506C>A	p.Ala169Asp	p.A169D	ENST00000311737	NM_002769.4	169	gCt/gAt	0	1	1	UPI0000001309	0	getma.org/pdb.php?prot=TRY1_HUMAN&from=24&to=239&var=A169D	ENST00000311737		ENSG00000204983	9475		195	-0.315		HGNC	p.A119D	rs751892043	PRSS1		SNV			1	9.61E-05			ENST00000492062	protein_coding	getma.org/?cm=var&var=hg19,7,142460333,C,A&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494		A/D		A	neutral	512/800	3.00E-05	getma.org/?cm=msa&ty=f&p=TRY1_HUMAN&rb=24&re=239&var=A169D	tolerated(0.27)	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN			YES	PRSS1,missense_variant,p.Ala183Asp,ENST00000486171,;PRSS1,missense_variant,p.Ala169Asp,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Ala119Asp,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;							MODERATE	506/744	A169D	TRY1_HUMAN			Transcript		benign(0.006)	.	ENSP00000308720	2.47E-05	CCDS5872.1			1	
SENP1	0	LGGM	GRCh37	12	48477534	48477534	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	25	14	.	.	ENST00000004980.5:c.392A>G	p.Asn131Ser	p.N131S	ENST00000004980		131	aAc/aGc	0	1		UPI000003756B	0	NA	ENST00000448372		ENSG00000079387	17927		39	0.805		HGNC	p.N131S		SENP1		SNV							ENST00000549518	protein_coding	getma.org/?cm=var&var=hg19,12,48477534,T,C&fts=all		hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF7		N/S		C	low	838/4726		getma.org/?cm=msa&ty=f&p=SENP1_HUMAN&rb=1&re=434&var=N131S	tolerated(0.18)	F8VRZ8_HUMAN				SENP1,missense_variant,p.Asn131Ser,ENST00000004980,;SENP1,missense_variant,p.Asn131Ser,ENST00000448372,NM_001267595.1;SENP1,missense_variant,p.Asn131Ser,ENST00000551330,;SENP1,missense_variant,p.Asn131Ser,ENST00000549518,NM_001267594.1;SENP1,missense_variant,p.Asn131Ser,ENST00000549595,;SENP1,missense_variant,p.Asn124Ser,ENST00000551798,;SENP1,3_prime_UTR_variant,,ENST00000339976,;RNU6-1203P,downstream_gene_variant,,ENST00000410703,;SENP1,non_coding_transcript_exon_variant,,ENST00000547886,;SENP1,non_coding_transcript_exon_variant,,ENST00000551592,;SENP1,3_prime_UTR_variant,,ENST00000552189,;SENP1,downstream_gene_variant,,ENST00000547181,;RP1-228P16.7,upstream_gene_variant,,ENST00000419998,;RP1-228P16.7,upstream_gene_variant,,ENST00000549557,;							MODERATE	392/1932	N131S	SENP1_HUMAN			Transcript		benign(0.19)	.	ENSP00000394791					1	
FBXL17	0	LGGM	GRCh37	5	107703567	107703567	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	21	15	.	.	ENST00000542267.1:c.1081T>G	p.Phe361Val	p.F361V	ENST00000542267	NM_001163315.2	361	Ttt/Gtt	0	1	1	UPI00019B21FB	0	NA	ENST00000542267		ENSG00000145743	13615		36	0.685		HGNC	p.F361V		FBXL17		SNV							ENST00000542267	protein_coding	getma.org/?cm=var&var=hg19,5,107703567,A,C&fts=all		PROSITE_profiles:PS50181,hmmpanther:PTHR23125:SF250,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Pfam_domain:PF12937,SMART_domains:SM00256,SMART_domains:SM00367,Superfamily_domains:SSF81383		F/V		C	neutral	1488/5188		getma.org/?cm=msa&ty=f&p=FXL17_HUMAN&rb=321&re=368&var=F361V	tolerated(0.09)				YES	FBXL17,missense_variant,p.Phe361Val,ENST00000542267,NM_001163315.2;FBXL17,5_prime_UTR_variant,,ENST00000359660,;FBXL17,5_prime_UTR_variant,,ENST00000496714,;FBXL17,non_coding_transcript_exon_variant,,ENST00000518486,;FBXL17,upstream_gene_variant,,ENST00000481160,;							MODERATE	1081/2106	F361V	FXL17_HUMAN			Transcript		possibly_damaging(0.825)	.	ENSP00000437464		CCDS54886.1			1	
HIST1H2BF	0	LGGM	GRCh37	6	26199837	26199837	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	54	17	.	.	ENST00000359985.1:c.51G>A	p.Lys17=	p.K17=	ENST00000359985	NM_003522.3	17	aaG/aaA	0	1	1	UPI0000000C24	0		ENST00000359985		ENSG00000197846	4752		71			HGNC	p.K17K		HIST1H2BF		SNV							ENST00000359985	protein_coding			Gene3D:1.10.20.10,hmmpanther:PTHR23428,Low_complexity_(Seg):seg,Superfamily_domains:SSF47113		K		A		90/1195				B2R4S9_HUMAN			YES	HIST1H2BF,synonymous_variant,p.=,ENST00000359985,NM_003522.3;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,;							LOW	51/381		H2B1C_HUMAN			Transcript			.	ENSP00000353074		CCDS4592.1			1	
GPR37	0	LGGM	GRCh37	7	124386602	124386602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	32	17	.	.	ENST00000303921.2:c.1819G>T	p.Ala607Ser	p.A607S	ENST00000303921	NM_005302.3	607	Gct/Tct	0	1	1	UPI0000001C92	0	NA	ENST00000303921		ENSG00000170775	4494		49	0		HGNC	p.A607S		GPR37		SNV							ENST00000303921	protein_coding	getma.org/?cm=var&var=hg19,7,124386602,C,A&fts=all		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF32		A/S		A	neutral	2470/3021		getma.org/?cm=msa&ty=f&p=GPR37_HUMAN&rb=550&re=613&var=A607S	tolerated(0.12)				YES	GPR37,missense_variant,p.Ala607Ser,ENST00000303921,NM_005302.3;							MODERATE	1819/1842	A607S	GPR37_HUMAN			Transcript		benign(0.213)	.	ENSP00000306449		CCDS5792.1			1	
MUC4	0	LGGM	GRCh37	3	195512326	195512326	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060664	H060664N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	127	17	.	.	ENST00000463781.3:c.6125C>T	p.Ser2042Phe	p.S2042F	ENST00000463781	NM_018406.6	2042	tCc/tTc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		144	0		HGNC	p.S2042F		MUC4		SNV							ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195512326,G,A&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		S/F		A	neutral	6585/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=S2042F		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Ser2042Phe,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser2042Phe,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser2042Phe,ENST00000478156,;MUC4,missense_variant,p.Ser2042Phe,ENST00000466475,;MUC4,missense_variant,p.Ser2042Phe,ENST00000477756,;MUC4,missense_variant,p.Ser2042Phe,ENST00000477086,;MUC4,missense_variant,p.Ser2042Phe,ENST00000480843,;MUC4,missense_variant,p.Ser2042Phe,ENST00000462323,;MUC4,missense_variant,p.Ser2042Phe,ENST00000470451,;MUC4,missense_variant,p.Ser2042Phe,ENST00000479406,;							MODERATE	6125/16239	S2042F				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37451763	37451763	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060664	H060664N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	34	19	.	.	ENST00000361713.1:c.1821A>G	p.Gln607=	p.Q607=	ENST00000361713	NM_052997.2	607	caA/caG	0	1	1	UPI0000458879	0		ENST00000361713		ENSG00000148513	17234		53			HGNC	p.Q607Q		ANKRD30A		SNV							ENST00000361713	protein_coding			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11		Q		G		1920/4405				R4GNA2_HUMAN			YES	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;							LOW	1821/4026		AN30A_HUMAN			Transcript			.	ENSP00000354432		CCDS7193.1			1	
CADPS	0	LGGM	GRCh37	3	62385203	62385203	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060664	H060664N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	25	22	.	.	ENST00000383710.4:c.3940A>T	p.Thr1314Ser	p.T1314S	ENST00000383710	NM_003716.3	1314	Acc/Tcc	0	1	1	UPI00001C036A	0	NA	ENST00000383710		ENSG00000163618	1426		47	0.4		HGNC	p.T1275S		CADPS		SNV							ENST00000283269	protein_coding	getma.org/?cm=var&var=hg19,3,62385203,T,A&fts=all		hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166		T/S		A	neutral	4290/5471		getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=1141&re=1340&var=T1314S	tolerated(0.23)				YES	CADPS,missense_variant,p.Thr1314Ser,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Thr1235Ser,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Thr1275Ser,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Thr306Ser,ENST00000473635,;CADPS,downstream_gene_variant,,ENST00000466621,;CADPS,non_coding_transcript_exon_variant,,ENST00000474560,;CADPS,non_coding_transcript_exon_variant,,ENST00000486172,;							MODERATE	3940/4062	T1314S	CAPS1_HUMAN			Transcript		benign(0.292)	.	ENSP00000373215		CCDS46858.1			1	
DNAH8	0	LGGM	GRCh37	6	38850791	38850791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	38	24	.	.	ENST00000359357.3:c.7313C>A	p.Thr2438Lys	p.T2438K	ENST00000359357		2438	aCa/aAa	0	1	1	UPI00003677EB	0	getma.org/pdb.php?prot=DYH8_HUMAN&from=2419&to=2691&var=T2438K	ENST00000359357		ENSG00000124721	2952		62	3.365		HGNC	p.T2402K		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38850791,C,A&fts=all		Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		T/K		A	medium	7567/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=2419&re=2691&var=T2438K					YES	DNAH8,missense_variant,p.Thr2643Lys,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Thr2438Lys,ENST00000359357,;DNAH8,missense_variant,p.Thr2402Lys,ENST00000441566,;DNAH8,missense_variant,p.Thr2655Lys,ENST00000449981,;							MODERATE	7313/13473	T2438K	DYH8_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000352312					1	
NEFH	0	LGGM	GRCh37	22	29885589	29885590	+	inframe_insertion	In_Frame_Ins	INS	-	-	CCCCTGAGAAGGCCAAGT	novel	by Submitter	H060664	H060664N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	34	26	.	.	ENST00000310624.6:c.1947_1964dupTGAGAAGGCCAAGTCCCC	p.Ala652_Lys657dup	p.A652_K657dup	ENST00000310624	NM_021076.3	654	tcc/tCCCCTGAGAAGGCCAAGTcc	0	1	1	UPI00001AEF71	0		ENST00000310624		ENSG00000100285	7737		60			HGNC	p.S654delinsSPEKAKS	COSM1415521	NEFH		insertion			1			1	ENST00000310624	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214		S/SPEKAKS		CCCCTGAGAAGGCCAAGT		1993-1994/3783							YES	NEFH,inframe_insertion,p.Ala652_Lys657dup,ENST00000310624,NM_021076.3;					1		MODERATE	1960-1961/3063		NFH_HUMAN			Transcript	4		.	ENSP00000311997		CCDS13858.1			1	
PLXND1	0	LGGM	GRCh37	3	129289765	129289765	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060664	H060664N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060664N.bam, H060664T.bam	Illumina HiSeq	91	42	.	.	ENST00000324093.4:c.3614G>A	p.Ser1205Asn	p.S1205N	ENST00000324093	NM_015103.2	1205	aGc/aAc	0	1	1	UPI00003671AD	0	NA	ENST00000324093		ENSG00000004399	9107		133	-2.08		HGNC	p.S1205N		PLXND1		SNV			1				ENST00000324093	protein_coding	getma.org/?cm=var&var=hg19,3,129289765,C,T&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7		S/N		T	neutral	3793/7094		getma.org/?cm=msa&ty=f&p=PLXD1_HUMAN&rb=1152&re=1343&var=S1205N	tolerated(0.39)	Q6P657_HUMAN			YES	PLXND1,missense_variant,p.Ser1205Asn,ENST00000393239,;PLXND1,missense_variant,p.Ser1205Asn,ENST00000324093,NM_015103.2;PLXND1,non_coding_transcript_exon_variant,,ENST00000514990,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504767,;PLXND1,non_coding_transcript_exon_variant,,ENST00000511018,;PLXND1,upstream_gene_variant,,ENST00000512744,;PLXND1,upstream_gene_variant,,ENST00000503166,;PLXND1,downstream_gene_variant,,ENST00000515191,;PLXND1,downstream_gene_variant,,ENST00000505505,;							MODERATE	3614/5778	S1205N	PLXD1_HUMAN			Transcript		benign(0)	.	ENSP00000317128		CCDS33854.1			1	
FOXN1	0	LGGM	GRCh37	17	26862206	26862206	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	3	2	.	.	ENST00000226247.2:c.1617C>A	p.Phe539Leu	p.F539L	ENST00000226247	NM_003593.2	539	ttC/ttA	0	1	1	UPI000012ADE6	0	NA	ENST00000226247		ENSG00000109101	12765		5	1.555		HGNC	p.F539L		FOXN1		SNV			1				ENST00000226247	protein_coding	getma.org/?cm=var&var=hg19,17,26862206,C,A&fts=all		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71		F/L		A	low	1646/3436		getma.org/?cm=msa&ty=f&p=FOXN1_HUMAN&rb=401&re=647&var=F539L	tolerated(0.15)	J3KRT9_HUMAN			YES	FOXN1,missense_variant,p.Phe539Leu,ENST00000226247,NM_003593.2;FOXN1,missense_variant,p.Phe539Leu,ENST00000579795,;RP11-192H23.4,intron_variant,,ENST00000481916,;							MODERATE	1617/1947	F539L	FOXN1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000226247		CCDS11232.1			1	
MAP3K6	0	LGGM	GRCh37	1	27689414	27689414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	12	3	.	.	ENST00000493901.1:c.1070G>T	p.Gly357Val	p.G357V	ENST00000493901	NM_004672.3	357	gGc/gTc	0	1		UPI0000205587	0	NA	ENST00000357582		ENSG00000142733	6858		15	2.41		HGNC	p.G357V		MAP3K6		SNV			1				ENST00000357582	protein_coding	getma.org/?cm=var&var=hg19,1,27689414,C,A&fts=all		hmmpanther:PTHR11584:SF371,hmmpanther:PTHR11584,Pfam_domain:PF13281		G/V		A	medium	1339/4136		getma.org/?cm=msa&ty=f&p=M3K6_HUMAN&rb=129&re=507&var=G357V	deleterious(0)	Q32MQ5_HUMAN				MAP3K6,missense_variant,p.Gly349Val,ENST00000374040,;MAP3K6,missense_variant,p.Gly357Val,ENST00000493901,NM_004672.3;MAP3K6,missense_variant,p.Gly357Val,ENST00000357582,;MAP3K6,missense_variant,p.Gly81Val,ENST00000472410,;							MODERATE	1070/3867	G357V	M3K6_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000350195		CCDS299.1			1	
CPS1	0	LGGM	GRCh37	2	211527865	211527865	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	42	3	.	.	ENST00000430249.2:c.3964C>T	p.Pro1322Ser	p.P1322S	ENST00000430249	NM_001122633.2	1322	Ccc/Tcc	0	1		UPI000000D7EC	0	getma.org/pdb.php?prot=CPSM_HUMAN&from=1292&to=1372&var=P1316S	ENST00000233072		ENSG00000021826	2323		45	-0.985		HGNC	p.P1316S	rs752844285	CPS1		SNV			1				ENST00000233072	protein_coding	getma.org/?cm=var&var=hg19,2,211527865,C,T&fts=all		Gene3D:3.30.470.20,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369		P/S		T	neutral	4142/5821	3.01E-05	getma.org/?cm=msa&ty=f&p=CPSM_HUMAN&rb=1292&re=1372&var=P1316S	tolerated(1)	Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN				CPS1,missense_variant,p.Pro1316Ser,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Pro1322Ser,ENST00000430249,NM_001122633.2;CPS1,missense_variant,p.Pro865Ser,ENST00000451903,NM_001122634.2;CPS1,non_coding_transcript_exon_variant,,ENST00000470791,;							MODERATE	3946/4503	P1316S	CPSM_HUMAN			Transcript		benign(0.064)	.	ENSP00000233072	1.65E-05	CCDS2393.1			1	
OR11H12	0	LGGM	GRCh37	14	19377652	19377652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	33	3	.	.	ENST00000550708.1:c.59G>T	p.Ser20Ile	p.S20I	ENST00000550708	NM_001013354.1	20	aGc/aTc	0	1	1	UPI00004EAFF2	0	NA	ENST00000550708		ENSG00000257115	30738		36	1.225		HGNC	p.S20I		OR11H12		SNV							ENST00000550708	protein_coding	getma.org/?cm=var&var=hg19,14,19377652,G,T&fts=all		hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		S/I		T	low	131/1085		getma.org/?cm=msa&ty=f&p=O11HC_HUMAN&rb=1&re=153&var=S20I	tolerated(0.25)				YES	OR11H12,missense_variant,p.Ser20Ile,ENST00000550708,NM_001013354.1,NM_001197287.1;RP11-536C10.4,upstream_gene_variant,,ENST00000552261,;							MODERATE	59/981	S20I	O11HC_HUMAN			Transcript		benign(0.01)	.	ENSP00000449002		CCDS32017.1			1	
CES2	0	LGGM	GRCh37	16	66969362	66969362	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	5	3	.	.	ENST00000317091.4:c.16C>T	p.Arg6Cys	p.R6C	ENST00000317091	NM_003869.5	6	Cgc/Tgc	0	1	1	UPI0000074733	0	NA	ENST00000317091		ENSG00000172831	1864		8	0.345		HGNC	p.R6C		CES2		SNV							ENST00000568470	protein_coding	getma.org/?cm=var&var=hg19,16,66969362,C,T&fts=all				R/C		T	neutral	1000/3927		getma.org/?cm=msa&ty=f&p=A8K367_HUMAN&rb=1&re=72&var=R6C	tolerated_low_confidence(0.08)	J3QLP1_HUMAN,J3QKN7_HUMAN			YES	CES2,missense_variant,p.Arg6Cys,ENST00000317091,NM_003869.5;CES2,missense_variant,p.Arg6Cys,ENST00000417689,NM_198061.2;CES2,missense_variant,p.Arg6Cys,ENST00000566182,;CES2,intron_variant,,ENST00000561697,;FAM96B,upstream_gene_variant,,ENST00000567511,;FAM96B,upstream_gene_variant,,ENST00000422424,NM_016062.3;FAM96B,upstream_gene_variant,,ENST00000568572,;CES2,missense_variant,p.Arg6Cys,ENST00000568470,;CES2,missense_variant,p.Arg6Cys,ENST00000570032,;FAM96B,upstream_gene_variant,,ENST00000563490,;FAM96B,upstream_gene_variant,,ENST00000562362,;FAM96B,upstream_gene_variant,,ENST00000569299,;CES2,upstream_gene_variant,,ENST00000566359,;							MODERATE	16/1872	R6C	EST2_HUMAN			Transcript		benign(0)	.	ENSP00000317842		CCDS10825.1			1	
DHH	0	LGGM	GRCh37	12	49488094	49488094	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	23	3	.	.	ENST00000266991.2:c.202G>T	p.Ala68Ser	p.A68S	ENST00000266991	NM_021044.2	68	Gca/Tca	0	1	1	UPI0000035884	0	getma.org/pdb.php?prot=DHH_HUMAN&from=23&to=185&var=A68S	ENST00000266991		ENSG00000139549	2865		26	-0.145		HGNC	p.A68S		DHH		SNV			1				ENST00000266991	protein_coding	getma.org/?cm=var&var=hg19,12,49488094,C,A&fts=all		Gene3D:3.30.1380.10,Pfam_domain:PF01085,PIRSF_domain:PIRSF009400,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF15,Superfamily_domains:SSF55166		A/S		A	neutral	509/1936		getma.org/?cm=msa&ty=f&p=DHH_HUMAN&rb=23&re=185&var=A68S	tolerated(0.37)	F6KSZ4_HUMAN			YES	DHH,missense_variant,p.Ala68Ser,ENST00000266991,NM_021044.2;LMBR1L,downstream_gene_variant,,ENST00000267102,NM_018113.2;LMBR1L,downstream_gene_variant,,ENST00000547382,;LMBR1L,downstream_gene_variant,,ENST00000395141,;LMBR1L,downstream_gene_variant,,ENST00000547698,;RP11-386G11.8,downstream_gene_variant,,ENST00000553174,;RP11-386G11.8,downstream_gene_variant,,ENST00000548030,;LMBR1L,downstream_gene_variant,,ENST00000550867,;LMBR1L,downstream_gene_variant,,ENST00000417750,;LMBR1L,downstream_gene_variant,,ENST00000552577,;LMBR1L,downstream_gene_variant,,ENST00000547670,;LMBR1L,downstream_gene_variant,,ENST00000547813,;LMBR1L,downstream_gene_variant,,ENST00000553040,;LMBR1L,downstream_gene_variant,,ENST00000551143,;LMBR1L,downstream_gene_variant,,ENST00000551272,;							MODERATE	202/1191	A68S	DHH_HUMAN			Transcript		benign(0.073)	.	ENSP00000266991		CCDS8779.1			1	
KANSL2	0	LGGM	GRCh37	12	49056411	49056411	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	15	3	.	.	ENST00000420613.2:c.974-2009C>T		*325*	ENST00000420613	NM_017822.3			0	1	1	UPI00001FC0EA	0		ENST00000420613		ENSG00000139620	26024		18			HGNC	p.L139L		KANSL2		SNV							ENST00000357861	protein_coding							A		-/2155				F8VRX7_HUMAN,F8VP38_HUMAN			YES	KANSL2,synonymous_variant,p.=,ENST00000357861,;KANSL2,intron_variant,,ENST00000550347,;KANSL2,intron_variant,,ENST00000420613,NM_017822.3;KANSL2,intron_variant,,ENST00000553086,;KANSL2,intron_variant,,ENST00000547087,;SNORA2B,downstream_gene_variant,,ENST00000384583,NR_002951.1;KANSL2,upstream_gene_variant,,ENST00000548701,;KANSL2,upstream_gene_variant,,ENST00000549463,;KANSL2,synonymous_variant,p.=,ENST00000549574,;KANSL2,3_prime_UTR_variant,,ENST00000546701,;KANSL2,intron_variant,,ENST00000548147,;							MODIFIER	-/1479		KANL2_HUMAN			Transcript			.	ENSP00000415436		CCDS44869.1			1	
MED23	0	LGGM	GRCh37	6	131948535	131948535	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	80	4	.	.	ENST00000368068.3:c.159+1G>A		p.X53_splice	ENST00000368068	NM_004830.3			0	1	1	UPI000012855F	0		ENST00000368068		ENSG00000112282	2372		84			HGNC	-		MED23		SNV			1				ENST00000354577	protein_coding							T		-/5233				B9TX51_HUMAN			YES	MED23,splice_donor_variant,,ENST00000403834,;MED23,splice_donor_variant,,ENST00000368068,NM_004830.3;MED23,splice_donor_variant,,ENST00000354577,NM_015979.3,NM_001270521.1;MED23,splice_donor_variant,,ENST00000368058,;MED23,splice_donor_variant,,ENST00000368060,NM_001270522.1;MED23,splice_donor_variant,,ENST00000540546,;MED23,splice_donor_variant,,ENST00000368053,;MED23,splice_donor_variant,,ENST00000539158,;ENPP3,upstream_gene_variant,,ENST00000414305,;MED23,non_coding_transcript_exon_variant,,ENST00000489888,;ENPP3,upstream_gene_variant,,ENST00000427707,;							HIGH	159/4107		MED23_HUMAN			Transcript			.	ENSP00000357047		CCDS5147.1			1	
CDCP1	0	LGGM	GRCh37	3	45135040	45135040	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	47	4	.	.	ENST00000296129.1:c.1356G>A	p.Val452=	p.V452=	ENST00000296129	NM_022842.4	452	gtG/gtA	0	1	1	UPI000013E304	0		ENST00000296129		ENSG00000163814	24357		51			HGNC	p.V452V		CDCP1		SNV							ENST00000296129	protein_coding			hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0		V		T		1491/6006							YES	CDCP1,synonymous_variant,p.=,ENST00000296129,NM_022842.4;							LOW	1356/2511		CDCP1_HUMAN			Transcript			.	ENSP00000296129		CCDS2727.1			1	
DHH	0	LGGM	GRCh37	12	49488093	49488093	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	23	4	.	.	ENST00000266991.2:c.203C>T	p.Ala68Val	p.A68V	ENST00000266991	NM_021044.2	68	gCa/gTa	0	1	1	UPI0000035884	0	getma.org/pdb.php?prot=DHH_HUMAN&from=23&to=185&var=A68V	ENST00000266991		ENSG00000139549	2865		27	1.445		HGNC	p.A68V		DHH		SNV			1				ENST00000266991	protein_coding	getma.org/?cm=var&var=hg19,12,49488093,G,A&fts=all		Gene3D:3.30.1380.10,Pfam_domain:PF01085,PIRSF_domain:PIRSF009400,hmmpanther:PTHR11889,hmmpanther:PTHR11889:SF15,Superfamily_domains:SSF55166		A/V		A	low	510/1936		getma.org/?cm=msa&ty=f&p=DHH_HUMAN&rb=23&re=185&var=A68V	deleterious(0.01)	F6KSZ4_HUMAN			YES	DHH,missense_variant,p.Ala68Val,ENST00000266991,NM_021044.2;LMBR1L,downstream_gene_variant,,ENST00000267102,NM_018113.2;LMBR1L,downstream_gene_variant,,ENST00000547382,;LMBR1L,downstream_gene_variant,,ENST00000395141,;LMBR1L,downstream_gene_variant,,ENST00000547698,;RP11-386G11.8,downstream_gene_variant,,ENST00000553174,;RP11-386G11.8,downstream_gene_variant,,ENST00000548030,;LMBR1L,downstream_gene_variant,,ENST00000550867,;LMBR1L,downstream_gene_variant,,ENST00000417750,;LMBR1L,downstream_gene_variant,,ENST00000552577,;LMBR1L,downstream_gene_variant,,ENST00000547670,;LMBR1L,downstream_gene_variant,,ENST00000547813,;LMBR1L,downstream_gene_variant,,ENST00000553040,;LMBR1L,downstream_gene_variant,,ENST00000551143,;LMBR1L,downstream_gene_variant,,ENST00000551272,;							MODERATE	203/1191	A68V	DHH_HUMAN			Transcript		benign(0.007)	.	ENSP00000266991		CCDS8779.1			1	
SEZ6L2	0	LGGM	GRCh37	16	29910266	29910266	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	3	4	.	.	ENST00000308713.5:c.75C>T	p.Ile25=	p.I25=	ENST00000308713	NM_001114099.2	25	atC/atT	0	1	1	UPI0000366B1B	0		ENST00000308713		ENSG00000174938	30844		7			HGNC	p.I25I		SEZ6L2		SNV							ENST00000308713	protein_coding			Cleavage_site_(Signalp):SignalP-noTM		I		A		603/3801				B3KNF3_HUMAN			YES	SEZ6L2,synonymous_variant,p.=,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,synonymous_variant,p.=,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,synonymous_variant,p.=,ENST00000346932,NM_001114100.2;SEZ6L2,synonymous_variant,p.=,ENST00000537485,NM_001243333.1;SEZ6L2,synonymous_variant,p.=,ENST00000568380,;ASPHD1,upstream_gene_variant,,ENST00000308748,NM_181718.3;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,upstream_gene_variant,,ENST00000562159,;ASPHD1,upstream_gene_variant,,ENST00000566693,;ASPHD1,upstream_gene_variant,,ENST00000414952,;							LOW	75/2733		SE6L2_HUMAN			Transcript			.	ENSP00000312550		CCDS10659.1			1	
AF165138.7	0	LGGM	GRCh37	21	15981811	15981811	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	70	4	.	.	ENST00000400562.1:c.314A>G	p.Gln105Arg	p.Q105R	ENST00000400562		105	cAg/cGg	0	1	1	UPI0000E5A37E	0	NA	ENST00000400562		ENSG00000243440			74	0.345		Clone_based_vega_gene	p.Q105R		AF165138.7		SNV							ENST00000400562	protein_coding	getma.org/?cm=var&var=hg19,21,15981811,T,C&fts=all				Q/R		C	neutral	364/808		getma.org/?cm=msa&ty=f&p=YU005_HUMAN&rb=9&re=153&var=Q105R	deleterious(0.03)				YES	AF165138.7,missense_variant,p.Gln97Arg,ENST00000435732,NM_001256579.1;AF165138.7,missense_variant,p.Gln105Arg,ENST00000400562,;AF165138.7,downstream_gene_variant,,ENST00000469393,;AF165138.7,downstream_gene_variant,,ENST00000467280,;							MODERATE	314/498	Q105R	YU005_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000383407					1	
RCSD1	0	LGGM	GRCh37	1	167666681	167666681	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	1	4	.	.	ENST00000367854.3:c.820C>A	p.Gln274Lys	p.Q274K	ENST00000367854	NM_052862.3	274	Cag/Aag	0	1	1	UPI0000204CFA	0	NA	ENST00000367854		ENSG00000198771	28310		5	0.55		HGNC	p.Q274K		RCSD1		SNV							ENST00000367854	protein_coding	getma.org/?cm=var&var=hg19,1,167666681,C,A&fts=all		Pfam_domain:PF05177,hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF2		Q/K		A	neutral	1151/3135		getma.org/?cm=msa&ty=f&p=CPZIP_HUMAN&rb=227&re=330&var=Q274K	tolerated(0.63)				YES	RCSD1,missense_variant,p.Gln274Lys,ENST00000367854,NM_052862.3;RCSD1,missense_variant,p.Gln244Lys,ENST00000537350,;RCSD1,downstream_gene_variant,,ENST00000361496,;							MODERATE	820/1251	Q274K	CPZIP_HUMAN			Transcript		benign(0.192)	.	ENSP00000356828		CCDS1263.1			1	
ENTPD1	0	LGGM	GRCh37	10	97620265	97620265	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	16	4	.	.	ENST00000371207.3:c.1150T>A	p.Leu384Met	p.L384M	ENST00000371207	NM_001164178.1	384	Ttg/Atg	0	1		UPI0000129FAD	0	getma.org/pdb.php?prot=ENTP1_HUMAN&from=40&to=471&var=L372M	ENST00000371205		ENSG00000138185	3363		20	1.545		HGNC	p.L372M		ENTPD1		SNV			1				ENST00000371205	protein_coding	getma.org/?cm=var&var=hg19,10,97620265,T,A&fts=all		hmmpanther:PTHR11782:SF32,hmmpanther:PTHR11782,Pfam_domain:PF01150		L/M		A	low	1397/2035		getma.org/?cm=msa&ty=f&p=ENTP1_HUMAN&rb=40&re=471&var=L372M	tolerated(0.11)					ENTPD1,missense_variant,p.Leu234Met,ENST00000371203,NM_001164182.1,NM_001164179.1,NM_001776.5;ENTPD1,missense_variant,p.Leu384Met,ENST00000371207,NM_001164178.1;ENTPD1,missense_variant,p.Leu234Met,ENST00000539125,NM_001164183.1;ENTPD1,missense_variant,p.Leu264Met,ENST00000543964,NM_001164181.1;ENTPD1,missense_variant,p.Leu379Met,ENST00000453258,NM_001098175.1;ENTPD1,missense_variant,p.Leu372Met,ENST00000371205,;ENTPD1-AS1,intron_variant,,ENST00000416301,;RP11-429G19.3,intron_variant,,ENST00000433113,;ENTPD1-AS1,downstream_gene_variant,,ENST00000451364,;RP11-248J23.7,upstream_gene_variant,,ENST00000491114,;							MODERATE	1114/1533	L372M	ENTP1_HUMAN			Transcript		benign(0.35)	.	ENSP00000360248		CCDS7444.1			1	
NBPF3	0	LGGM	GRCh37	1	21808163	21808163	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	84	5	.	.	ENST00000318249.5:c.1507C>T	p.Pro503Ser	p.P503S	ENST00000318249	NM_032264.4	503	Cct/Tct	0	1	1	UPI0000037D6C	0	NA	ENST00000318249		ENSG00000142794	25076		89	2.655		HGNC	p.P447S		NBPF3		SNV							ENST00000434838	protein_coding	getma.org/?cm=var&var=hg19,1,21808163,C,T&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF15		P/S		T	medium	1857/3765		getma.org/?cm=msa&ty=f&p=NBPF3_HUMAN&rb=469&re=535&var=P503S	tolerated(0.11)				YES	NBPF3,missense_variant,p.Pro447Ser,ENST00000318220,;NBPF3,missense_variant,p.Pro503Ser,ENST00000318249,NM_032264.4;NBPF3,missense_variant,p.Pro491Ser,ENST00000342104,NM_001256416.2;NBPF3,missense_variant,p.Pro447Ser,ENST00000434838,;NBPF3,missense_variant,p.Pro433Ser,ENST00000454000,NM_001256417.2;NBPF3,non_coding_transcript_exon_variant,,ENST00000469876,;NBPF3,downstream_gene_variant,,ENST00000477050,;							MODERATE	1507/1902	P503S	NBPF3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000316782		CCDS216.1			1	
KCNRG	0	LGGM	GRCh37	13	50594589	50594589	+	stop_lost	Nonstop_Mutation	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	23	5	.	.	ENST00000312942.1:c.818G>T	p.Ter273LeuextTer51	p.*273Lext*51	ENST00000312942	NM_173605.1	273	tGa/tTa	0	1	1	UPI000000D8AF	0		ENST00000312942		ENSG00000198553	18893		28			HGNC	p.X273L	COSM275653	KCNRG		SNV						1	ENST00000312942	protein_coding					*/L		T		1058/1527							YES	KCNRG,stop_lost,p.Ter273LeuextTer51,ENST00000312942,NM_173605.1;KCNRG,3_prime_UTR_variant,,ENST00000360473,NM_199464.2;TRIM13,downstream_gene_variant,,ENST00000378182,NM_213590.1,NM_001007278.1,NM_052811.2,NM_005798.3;TRIM13,non_coding_transcript_exon_variant,,ENST00000478111,;TRIM13,non_coding_transcript_exon_variant,,ENST00000474805,;					1		HIGH	818/819		KCNRG_HUMAN			Transcript			.	ENSP00000324191		CCDS9424.1			1	
KIAA1244	0	LGGM	GRCh37	6	138584390	138584390	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	162	6	.	.	ENST00000251691.4:c.1770G>A	p.Arg590=	p.R590=	ENST00000251691	NM_020340.4	590	agG/agA	0	1	1	UPI000150AF4A	0		ENST00000251691		ENSG00000112379	21213		168			HGNC	p.R590R		KIAA1244		SNV							ENST00000251691	protein_coding			SMART_domains:SM00222,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		R		A		1936/14877				C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,synonymous_variant,p.=,ENST00000251691,NM_020340.4;							LOW	1770/6534		BIG3_HUMAN			Transcript			.	ENSP00000251691		CCDS5189.2			1	
SRRM2	0	LGGM	GRCh37	16	2812846	2812846	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	184	6	.	.	ENST00000301740.8:c.2317T>C	p.Leu773=	p.L773=	ENST00000301740	NM_016333.3	773	Ttg/Ctg	0	1	1	UPI000049DDFC	0		ENST00000301740		ENSG00000167978	16639		190			HGNC	p.L773L		SRRM2		SNV							ENST00000571093	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093		L		C		2866/9353				I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN			YES	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,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,;							LOW	2317/8259		SRRM2_HUMAN			Transcript			.	ENSP00000301740		CCDS32373.1			1	
PIK3CG	0	LGGM	GRCh37	7	106522621	106522621	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	23	7	.	.	ENST00000359195.3:c.2598A>G	p.Pro866=	p.P866=	ENST00000359195	NM_002649.2	866	ccA/ccG	0	1	1	UPI00000746B8	0		ENST00000359195		ENSG00000105851	8978		30			HGNC	p.P866P		PIK3CG		SNV							ENST00000496166	protein_coding			Gene3D:3.30.1010.10,Pfam_domain:PF00454,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,SMART_domains:SM00146,Superfamily_domains:SSF56112		P		G		2908/5377				Q24M88_HUMAN,E9PDN7_HUMAN			YES	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,synonymous_variant,p.=,ENST00000473541,;PIK3CG,non_coding_transcript_exon_variant,,ENST00000466738,;							LOW	2598/3309		PK3CG_HUMAN			Transcript			.	ENSP00000352121		CCDS5739.1			1	
ANPEP	0	LGGM	GRCh37	15	90349552	90349552	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	8	7	.	.	ENST00000300060.6:c.263C>T	p.Thr88Met	p.T88M	ENST00000300060	NM_001150.2	88	aCg/aTg	0	1	1	UPI00001AECCF	0	getma.org/pdb.php?prot=AMPN_HUMAN&from=75&to=480&var=T88M	ENST00000300060		ENSG00000166825	500	0.000173	15	2.09		HGNC	p.T88M	rs569385341,COSM2156888	ANPEP		SNV				9.61E-05		0,1	ENST00000300060	protein_coding	getma.org/?cm=var&var=hg19,15,90349552,G,A&fts=all		Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF149		T/M		A	medium	577/3678	3.00E-05	getma.org/?cm=msa&ty=f&p=AMPN_HUMAN&rb=75&re=480&var=T88M	tolerated(0.08)	Q8IVL7_HUMAN,Q71E46_HUMAN,H0YM04_HUMAN,H0YKT6_HUMAN,B4DV63_HUMAN,B4DP96_HUMAN			YES	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,;					0,1		MODERATE	263/2904	T88M	AMPN_HUMAN			Transcript		benign(0.16)	.	ENSP00000300060	4.12E-05	CCDS10356.1			1	
RALGAPA1	0	LGGM	GRCh37	14	36211695	36211695	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	18	7	.	.	ENST00000307138.6:c.1328A>G	p.Glu443Gly	p.E443G	ENST00000307138	NM_194301.2	443	gAg/gGg	0	1		UPI00003B5C50	0	NA	ENST00000389698		ENSG00000174373	17770		25	1.795		HGNC	p.E443G	rs760214742	RALGAPA1	6.31E-05	SNV							ENST00000382366	protein_coding	getma.org/?cm=var&var=hg19,14,36211695,T,C&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3		E/G		C	low	1719/7864		getma.org/?cm=msa&ty=f&p=RGPA1_HUMAN&rb=401&re=600&var=E443G	tolerated(0.14)	Q9H984_HUMAN				RALGAPA1,missense_variant,p.Glu443Gly,ENST00000258840,NM_001283044.1;RALGAPA1,missense_variant,p.Glu443Gly,ENST00000307138,NM_194301.2;RALGAPA1,missense_variant,p.Glu443Gly,ENST00000389698,NM_014990.1;RALGAPA1,missense_variant,p.Glu443Gly,ENST00000382366,NM_001283043.1;RALGAPA1,missense_variant,p.Glu443Gly,ENST00000553892,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554704,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000557069,;							MODERATE	1328/6111	E443G	RGPA1_HUMAN			Transcript		benign(0.009)	.	ENSP00000374348	8.24E-06	CCDS32065.1			1	
ITPRIP	0	LGGM	GRCh37	10	106074218	106074218	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	21	8	.	.	ENST00000278071.2:c.1592T>C	p.Ile531Thr	p.I531T	ENST00000278071	NM_033397.3	531	aTt/aCt	0	1	1	UPI0000074521	0	NA	ENST00000278071		ENSG00000148841	29370		29	1.995		HGNC	p.I531T		ITPRIP		SNV							ENST00000358187	protein_coding	getma.org/?cm=var&var=hg19,10,106074218,A,G&fts=all		hmmpanther:PTHR10656:SF8,hmmpanther:PTHR10656		I/T		G	medium	2045/4362		getma.org/?cm=msa&ty=f&p=IPRI_HUMAN&rb=484&re=547&var=I531T	deleterious(0)				YES	ITPRIP,missense_variant,p.Ile531Thr,ENST00000278071,NM_033397.3;ITPRIP,missense_variant,p.Ile531Thr,ENST00000337478,NM_001272013.1;ITPRIP,missense_variant,p.Ile531Thr,ENST00000358187,NM_001272012.1;ITPRIP,downstream_gene_variant,,ENST00000458723,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;							MODERATE	1592/1644	I531T	IPRI_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000278071		CCDS7557.1			1	
N6AMT1	0	LGGM	GRCh37	21	30257657	30257657	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	9	9	.	.	ENST00000303775.5:c.11A>G	p.Glu4Gly	p.E4G	ENST00000303775	NM_013240.4	4	gAg/gGg	0	1	1	UPI000013DE68	0	NA	ENST00000303775		ENSG00000156239	16021		18	0		HGNC	p.E4G		N6AMT1		SNV							ENST00000460212	protein_coding	getma.org/?cm=var&var=hg19,21,30257657,T,C&fts=all				E/G		C	neutral	37/4865	1.62E-05	getma.org/?cm=msa&ty=f&p=HEMK2_HUMAN&rb=1&re=45&var=E4G					YES	N6AMT1,missense_variant,p.Glu4Gly,ENST00000303775,NM_013240.4;N6AMT1,missense_variant,p.Glu4Gly,ENST00000351429,NM_182749.3;N6AMT1,missense_variant,p.Glu4Gly,ENST00000460212,;HSPD1P7,downstream_gene_variant,,ENST00000447985,;							MODERATE	11/645	E4G	HEMK2_HUMAN			Transcript		benign(0.017)	.	ENSP00000303584	8.24E-06	CCDS33526.1			1	
POTEG	0	LGGM	GRCh37	14	19553517	19553517	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	142	9	.	.	ENST00000409832.3:c.101G>T	p.Trp34Leu	p.W34L	ENST00000409832	NM_001005356.2	34	tGg/tTg	0	1		UPI00015DFD28	0	NA	ENST00000547889		ENSG00000222036	33896		151	0		HGNC	p.W34L		POTEG		SNV							ENST00000552966	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,14,19553517,G,T&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		W/L		T	neutral	153/1975		getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=1&re=39&var=W34L	deleterious_low_confidence(0)					POTEG,missense_variant,p.Trp34Leu,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Trp34Leu,ENST00000552966,;POTEG,missense_variant,p.Trp34Leu,ENST00000547889,;							MODERATE	101/1461	W34L	POTEG_HUMAN			Transcript		benign(0)	.	ENSP00000448062					1	
NCKAP1	0	LGGM	GRCh37	2	183843586	183843586	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	12	9	.	.	ENST00000360982.2:c.1417A>G	p.Met473Val	p.M473V	ENST00000360982	NM_013436.4	473	Atg/Gtg	0	1		UPI0000000DED	0	getma.org/pdb.php?prot=NCKP1_HUMAN&from=8&to=1124&var=M467V	ENST00000361354		ENSG00000061676	7666		21	1.355		HGNC	p.M473V		NCKAP1		SNV							ENST00000360982	protein_coding	getma.org/?cm=var&var=hg19,2,183843586,T,C&fts=all		Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11		M/V		C	low	1772/20347		getma.org/?cm=msa&ty=f&p=NCKP1_HUMAN&rb=8&re=1124&var=M467V	tolerated(0.09)					NCKAP1,missense_variant,p.Met467Val,ENST00000361354,;NCKAP1,missense_variant,p.Met473Val,ENST00000360982,NM_013436.4,NM_205842.2;							MODERATE	1399/3387	M467V	NCKP1_HUMAN			Transcript		benign(0.101)	.	ENSP00000355348		CCDS2287.1			1	
ARID1A	0	LGGM	GRCh37	1	27099950	27099950	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	19	9	.	.	ENST00000324856.7:c.3829C>T	p.Gln1277Ter	p.Q1277*	ENST00000324856	NM_006015.4	1277	Cag/Tag	0	1	1	UPI0000167B91	0	NA	ENST00000324856		ENSG00000117713	11110		28	0		HGNC	p.Q1277X		ARID1A		SNV			1				ENST00000457599	protein_coding	getma.org/?cm=var&var=hg19,1,27099950,C,T&fts=all		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12		Q/*		T	NA	4200/8577		NA		Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,stop_gained,p.Gln1277Ter,ENST00000324856,NM_006015.4;ARID1A,stop_gained,p.Gln1277Ter,ENST00000457599,NM_139135.2;ARID1A,stop_gained,p.Gln894Ter,ENST00000374152,;ARID1A,stop_gained,p.Gln174Ter,ENST00000430799,;ARID1A,5_prime_UTR_variant,,ENST00000540690,;ARID1A,stop_gained,p.Gln47Ter,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;							HIGH	3829/6858	Q1277*	ARI1A_HUMAN			Transcript			.	ENSP00000320485		CCDS285.1			1	
ARL4D	0	LGGM	GRCh37	17	41477295	41477295	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	20	9	.	.	ENST00000320033.4:c.195G>C	p.Gly65=	p.G65=	ENST00000320033	NM_001661.3	65	ggG/ggC	0	1	1	UPI0000140783	0		ENST00000320033		ENSG00000175906	656		29			HGNC	p.G65G		ARL4D		SNV							ENST00000320033	protein_coding			PROSITE_profiles:PS51417,hmmpanther:PTHR11711:SF137,hmmpanther:PTHR11711,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00177,SMART_domains:SM00178,SMART_domains:SM00175,Superfamily_domains:SSF52540		G		C		402/1612							YES	ARL4D,synonymous_variant,p.=,ENST00000320033,NM_001661.3;RNU6-1137P,upstream_gene_variant,,ENST00000517073,;							LOW	195/606		ARL4D_HUMAN			Transcript			.	ENSP00000322628		CCDS11463.1			1	
ZDBF2	0	LGGM	GRCh37	2	207173375	207173375	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	170	9	.	.	ENST00000374423.3:c.4123C>T	p.Gln1375Ter	p.Q1375*	ENST00000374423	NM_020923.1	1375	Cag/Tag	0	1	1	UPI000022BDE3	0	NA	ENST00000374423		ENSG00000204186	29313		179	0		HGNC	p.Q1375X	rs774330955	ZDBF2		SNV							ENST00000374423	protein_coding	getma.org/?cm=var&var=hg19,2,207173375,C,T&fts=all		hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		Q/*		T	NA	4509/10282	1.51E-05	NA		N0DVB2_HUMAN			YES	ZDBF2,stop_gained,p.Gln1375Ter,ENST00000374423,NM_020923.1,NM_001285549.1;							HIGH	4123/7065	Q1375*	ZDBF2_HUMAN			Transcript			.	ENSP00000363545	8.28E-06	CCDS46501.1			1	
RBM22	0	LGGM	GRCh37	5	150080021	150080021	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	14	9	.	.	ENST00000199814.4:c.93C>A	p.Asn31Lys	p.N31K	ENST00000199814	NM_018047.2	31	aaC/aaA	0	1	1	UPI00000223D3	0	NA	ENST00000199814		ENSG00000086589	25503		23	2.995		HGNC	p.N31K		RBM22		SNV							ENST00000447771	protein_coding	getma.org/?cm=var&var=hg19,5,150080021,G,T&fts=all		hmmpanther:PTHR14089,hmmpanther:PTHR14089:SF13		N/K		T	medium	215/2342		getma.org/?cm=msa&ty=f&p=RBM22_HUMAN&rb=1&re=200&var=N31K	deleterious(0)				YES	RBM22,missense_variant,p.Asn31Lys,ENST00000199814,NM_018047.2;RBM22,missense_variant,p.Asn31Lys,ENST00000540000,;RBM22,missense_variant,p.Asn31Lys,ENST00000447771,;RBM22,missense_variant,p.Asn150Lys,ENST00000521464,;RBM22,missense_variant,p.Asn24Lys,ENST00000518917,;RBM22,non_coding_transcript_exon_variant,,ENST00000522469,;RBM22,non_coding_transcript_exon_variant,,ENST00000521248,;RBM22,non_coding_transcript_exon_variant,,ENST00000521594,;							MODERATE	93/1263	N31K	RBM22_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000199814		CCDS34278.1			1	
TLE3	0	LGGM	GRCh37	15	70346881	70346881	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	15	10	.	.	ENST00000558939.1:c.1731C>T	p.Pro577=	p.P577=	ENST00000558939	NM_001282979.1	577	ccC/ccT	0	1	1	UPI000013703A	0		ENST00000558939		ENSG00000140332	11839	0.000347	25			HGNC	p.P574P	rs371689929	TLE3		SNV	A:0			0.000205			ENST00000451782	protein_coding		A:0.0008	PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR10814,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		P	A:0.0009	A		3109/6004	0.000407			H0YNT2_HUMAN	A:0	A:0	YES	TLE3,synonymous_variant,p.=,ENST00000558939,NM_001282979.1;TLE3,synonymous_variant,p.=,ENST00000442299,;TLE3,synonymous_variant,p.=,ENST00000317509,NM_005078.2,NM_001105192.1,NM_020908.1;TLE3,synonymous_variant,p.=,ENST00000557997,;TLE3,synonymous_variant,p.=,ENST00000560589,;TLE3,synonymous_variant,p.=,ENST00000559929,;TLE3,synonymous_variant,p.=,ENST00000560939,;TLE3,synonymous_variant,p.=,ENST00000559048,;TLE3,synonymous_variant,p.=,ENST00000558201,;TLE3,synonymous_variant,p.=,ENST00000440567,NM_001282981.1;TLE3,synonymous_variant,p.=,ENST00000539550,;TLE3,synonymous_variant,p.=,ENST00000451782,;TLE3,synonymous_variant,p.=,ENST00000558379,NM_001282980.1;TLE3,synonymous_variant,p.=,ENST00000557907,;TLE3,synonymous_variant,p.=,ENST00000559191,;TLE3,3_prime_UTR_variant,,ENST00000557919,;TLE3,3_prime_UTR_variant,,ENST00000561453,;TLE3,3_prime_UTR_variant,,ENST00000560525,;TLE3,non_coding_transcript_exon_variant,,ENST00000557815,;TLE3,non_coding_transcript_exon_variant,,ENST00000542329,;TLE3,upstream_gene_variant,,ENST00000559608,;TLE3,downstream_gene_variant,,ENST00000559826,;		A:0.0002					LOW	1731/2319		TLE3_HUMAN		A:0	Transcript			common_variant	ENSP00000452871	0.000272	CCDS45293.1		A:0	1	
VTCN1	0	LGGM	GRCh37	1	117690399	117690399	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	39	10	.	.	ENST00000369458.3:c.730G>A	p.Glu244Lys	p.E244K	ENST00000369458	NM_024626.3	244	Gag/Aag	0	1	1	UPI00000389E3	0	NA	ENST00000369458		ENSG00000134258	28873		49	0.805		HGNC	p.E149K		VTCN1		SNV							ENST00000539893	protein_coding	getma.org/?cm=var&var=hg19,1,117690399,C,T&fts=all		hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0		E/K		T	low	809/2612		getma.org/?cm=msa&ty=f&p=VTCN1_HUMAN&rb=230&re=282&var=E244K	tolerated(0.36)				YES	VTCN1,missense_variant,p.Glu244Lys,ENST00000369458,NM_024626.3;VTCN1,missense_variant,p.Glu247Lys,ENST00000359008,;VTCN1,missense_variant,p.Glu128Lys,ENST00000328189,NM_001253850.1;VTCN1,missense_variant,p.Glu149Lys,ENST00000539893,NM_001253849.1;							MODERATE	730/849	E244K	VTCN1_HUMAN			Transcript		benign(0.022)	.	ENSP00000358470		CCDS894.1			1	
LRRCC1	0	LGGM	GRCh37	8	86050414	86050414	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	16	10	.	.	ENST00000360375.3:c.2638G>C	p.Glu880Gln	p.E880Q	ENST00000360375	NM_033402.4	880	Gaa/Caa	0	1	1	UPI000021002F	0	NA	ENST00000360375		ENSG00000133739	29373		26	2.005		HGNC	p.E860Q		LRRCC1		SNV							ENST00000414626	protein_coding	getma.org/?cm=var&var=hg19,8,86050414,G,C&fts=all		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		E/Q		C	medium	2787/3813		getma.org/?cm=msa&ty=f&p=LRCC1_HUMAN&rb=835&re=1028&var=E880Q	deleterious(0.03)				YES	LRRCC1,missense_variant,p.Glu860Gln,ENST00000414626,;LRRCC1,missense_variant,p.Glu880Gln,ENST00000360375,NM_033402.4;LRRCC1,downstream_gene_variant,,ENST00000522770,;LRRCC1,downstream_gene_variant,,ENST00000517875,;LRRCC1,downstream_gene_variant,,ENST00000522567,;							MODERATE	2638/3099	E880Q	LRCC1_HUMAN			Transcript		benign(0.314)	.	ENSP00000353538		CCDS43750.1			1	
GPR61	0	LGGM	GRCh37	1	110085797	110085797	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	26	10	.	.	ENST00000527748.1:c.153G>T	p.Leu51=	p.L51=	ENST00000527748	NM_031936.4	51	ctG/ctT	0	1		UPI000003BCCB	0		ENST00000404129		ENSG00000156097	13300		36			HGNC	p.L51L		GPR61		SNV							ENST00000469383	nonsense_mediated_decay			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		T		836/2834				Q59GL3_HUMAN,G4XH66_HUMAN				GPR61,synonymous_variant,p.=,ENST00000527748,NM_031936.4;RP5-1160K1.8,intron_variant,,ENST00000526411,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,synonymous_variant,p.=,ENST00000404129,;GPR61,synonymous_variant,p.=,ENST00000469383,;							LOW	153/1356		GPR61_HUMAN			Transcript			.	ENSP00000385422		CCDS801.1			1	
RIMS1	0	LGGM	GRCh37	6	72957803	72957803	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	101	10	.	.	ENST00000521978.1:c.2214C>T	p.Ala738=	p.A738=	ENST00000521978	NM_014989.5	738	gcC/gcT	0	1	1	UPI00001908FB	0		ENST00000521978		ENSG00000079841	17282		111			HGNC	p.A131A	rs773228374	RIMS1		SNV			1	0.000102			ENST00000425662	protein_coding			hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19		A		T		2214/5079							YES	RIMS1,synonymous_variant,p.=,ENST00000264839,;RIMS1,synonymous_variant,p.=,ENST00000348717,;RIMS1,synonymous_variant,p.=,ENST00000521978,NM_014989.5;RIMS1,synonymous_variant,p.=,ENST00000491071,;RIMS1,synonymous_variant,p.=,ENST00000520567,;RIMS1,synonymous_variant,p.=,ENST00000517960,;RIMS1,synonymous_variant,p.=,ENST00000518273,;RIMS1,synonymous_variant,p.=,ENST00000522291,;RIMS1,synonymous_variant,p.=,ENST00000401910,NM_001168407.1;RIMS1,synonymous_variant,p.=,ENST00000517433,;RIMS1,synonymous_variant,p.=,ENST00000523963,NM_001168408.1;RIMS1,synonymous_variant,p.=,ENST00000517827,NM_001168410.1;RIMS1,synonymous_variant,p.=,ENST00000425662,NM_001168409.1;RIMS1,synonymous_variant,p.=,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,;							LOW	2214/5079		RIMS1_HUMAN			Transcript			.	ENSP00000428417	8.28E-06	CCDS47449.1			1	
TP53	0	LGGM	GRCh37	17	7578371	7578371	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	2	11	.	.	ENST00000269305.4:c.559G>T	p.Gly187Cys	p.G187C	ENST00000269305	NM_001126112.2	187	Ggt/Tgt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G187C	ENST00000269305		ENSG00000141510	11998		13	2.585		HGNC	p.G187C	TP53_g.12547G>T,COSM45275	TP53		SNV			1			0,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578371,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		G/C		A	medium	749/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G187C	tolerated(0.09)	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			YES	TP53,missense_variant,p.Gly187Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly187Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly187Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly187Cys,ENST00000445888,;TP53,missense_variant,p.Gly187Cys,ENST00000359597,;TP53,missense_variant,p.Gly187Cys,ENST00000413465,;TP53,missense_variant,p.Gly55Cys,ENST00000509690,;TP53,missense_variant,p.Gly94Cys,ENST00000514944,;TP53,downstream_gene_variant,,ENST00000508793,;TP53,downstream_gene_variant,,ENST00000604348,;TP53,downstream_gene_variant,,ENST00000503591,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,splice_region_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000510385,;TP53,splice_region_variant,,ENST00000504290,;TP53,splice_region_variant,,ENST00000504937,;TP53,splice_region_variant,,ENST00000505014,;					0,1		MODERATE	559/1182	G187C	P53_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000269305		CCDS11118.1			1	
UGT1A8	0	LGGM	GRCh37	2	234527122	234527122	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	216	11	.	.	ENST00000373450.4:c.769T>A	p.Phe257Ile	p.F257I	ENST00000373450	NM_019076.4	257	Ttt/Att	0	1	1	UPI0000072F75	0	getma.org/pdb.php?prot=UD18_HUMAN&from=26&to=521&var=F257I	ENST00000373450		ENSG00000241635	12540		227	3.04		HGNC	p.F257I		UGT1A8		SNV			1				ENST00000373450	protein_coding	getma.org/?cm=var&var=hg19,2,234527122,T,A&fts=all		Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF138,hmmpanther:PTHR11926		F/I		A	medium	832/2407		getma.org/?cm=msa&ty=f&p=UD18_HUMAN&rb=26&re=521&var=F257I	deleterious(0)	Q5DSZ6_HUMAN				UGT1A8,missense_variant,p.Phe257Ile,ENST00000373450,NM_019076.4;							MODERATE	769/1593	F257I	UD18_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362549		CCDS33402.1			1	
SAT2	0	LGGM	GRCh37	17	7530259	7530259	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	13	12	.	.	ENST00000269298.5:c.304+2T>C		p.X102_splice	ENST00000269298	NM_133491.3			0	1	1	UPI00000736AF	0		ENST00000269298		ENSG00000141504	23160		25			HGNC	-		SAT2		SNV							ENST00000269298	protein_coding							G		-/946							YES	SAT2,splice_donor_variant,,ENST00000269298,NM_133491.3;SHBG,intron_variant,,ENST00000575314,;SHBG,intron_variant,,ENST00000572262,;SHBG,intron_variant,,ENST00000574539,;SHBG,intron_variant,,ENST00000570547,;SHBG,intron_variant,,ENST00000576728,;SAT2,intron_variant,,ENST00000573566,;SHBG,intron_variant,,ENST00000576478,;SHBG,intron_variant,,ENST00000572182,;SHBG,upstream_gene_variant,,ENST00000380450,NM_001040.3;SHBG,upstream_gene_variant,,ENST00000575903,NM_001146279.1;SHBG,upstream_gene_variant,,ENST00000416273,NM_001146280.1;SHBG,upstream_gene_variant,,ENST00000340624,;SHBG,upstream_gene_variant,,ENST00000441599,NM_001146281.1;SHBG,upstream_gene_variant,,ENST00000576830,;SHBG,upstream_gene_variant,,ENST00000571153,;SHBG,upstream_gene_variant,,ENST00000576152,;SHBG,upstream_gene_variant,,ENST00000575729,;SHBG,upstream_gene_variant,,ENST00000575618,;SAT2,splice_donor_variant,,ENST00000380466,;SAT2,intron_variant,,ENST00000570850,;SAT2,intron_variant,,ENST00000576686,;SAT2,splice_donor_variant,,ENST00000571074,;SAT2,splice_donor_variant,,ENST00000575826,;SAT2,splice_donor_variant,,ENST00000572224,;SAT2,non_coding_transcript_exon_variant,,ENST00000576846,;SAT2,non_coding_transcript_exon_variant,,ENST00000570914,;SAT2,intron_variant,,ENST00000571195,;SAT2,intron_variant,,ENST00000576579,;SHBG,upstream_gene_variant,,ENST00000570527,;SHBG,upstream_gene_variant,,ENST00000570353,;SAT2,downstream_gene_variant,,ENST00000575114,;SAT2,downstream_gene_variant,,ENST00000573930,;SHBG,upstream_gene_variant,,ENST00000576747,;							HIGH	304/513		SAT2_HUMAN			Transcript			.	ENSP00000269298		CCDS11116.1			1	
PUM1	0	LGGM	GRCh37	1	31414962	31414962	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	17	12	.	.	ENST00000426105.2:c.3003C>G	p.Ala1001=	p.A1001=	ENST00000426105		1001	gcC/gcG	0	1		UPI000014FCE2	0		ENST00000257075		ENSG00000134644	14957		29			HGNC	p.A999A		PUM1		SNV							ENST00000257075	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF00806,PROSITE_profiles:PS50302,PROSITE_profiles:PS50303,hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1,SMART_domains:SM00025,Superfamily_domains:SSF48371		A		C		3091/5360				E9PL65_HUMAN				PUM1,synonymous_variant,p.=,ENST00000373747,NM_001020658.1;PUM1,synonymous_variant,p.=,ENST00000257075,NM_014676.2;PUM1,synonymous_variant,p.=,ENST00000424085,;PUM1,synonymous_variant,p.=,ENST00000525843,;PUM1,synonymous_variant,p.=,ENST00000373741,;PUM1,synonymous_variant,p.=,ENST00000426105,;PUM1,synonymous_variant,p.=,ENST00000440538,;PUM1,synonymous_variant,p.=,ENST00000423018,;PUM1,synonymous_variant,p.=,ENST00000373742,;PUM1,synonymous_variant,p.=,ENST00000498419,;PUM1,synonymous_variant,p.=,ENST00000525997,;PUM1,intron_variant,,ENST00000529846,;PUM1,synonymous_variant,p.=,ENST00000530669,;PUM1,downstream_gene_variant,,ENST00000527498,;							LOW	2997/3561		PUM1_HUMAN			Transcript			.	ENSP00000257075		CCDS338.1			1	
MARCH1	0	LGGM	GRCh37	4	164775189	164775189	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	10	12	.	.	ENST00000503008.1:c.95C>A	p.Ser32Ter	p.S32*	ENST00000503008	NM_001166373.1	32	tCa/tAa	0	1		UPI0000037BB3	0	NA	ENST00000274056		ENSG00000145416	26077		22	0		HGNC	p.S32X		MARCH1		SNV							ENST00000503008	protein_coding	getma.org/?cm=var&var=hg19,4,164775189,G,T&fts=all		hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF53		S/*		T	NA	142/5367		NA		D6REN1_HUMAN				MARCH1,stop_gained,p.Ser32Ter,ENST00000503008,NM_001166373.1;MARCH1,stop_gained,p.Ser32Ter,ENST00000274056,;MARCH1,stop_gained,p.Ser32Ter,ENST00000514618,;MARCH1,stop_gained,p.Ser32Ter,ENST00000507270,;MARCH1,non_coding_transcript_exon_variant,,ENST00000503104,;MARCH1,intron_variant,,ENST00000510696,;							HIGH	95/870	S32*	MARH1_HUMAN			Transcript			.	ENSP00000274056		CCDS54814.1			1	
MSR1	0	LGGM	GRCh37	8	15978090	15978090	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	13	12	.	.	ENST00000262101.5:c.1059C>G	p.Val353=	p.V353=	ENST00000262101		353	gtC/gtG	0	1	1	UPI000012F686	0		ENST00000262101		ENSG00000038945	7376		25			HGNC	p.V353V		MSR1		SNV			1				ENST00000262101	protein_coding			PROSITE_profiles:PS50287,hmmpanther:PTHR24021:SF10,hmmpanther:PTHR24021,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487,Prints_domain:PR00258		V		C		1181/2132				E5RFW8_HUMAN			YES	MSR1,synonymous_variant,p.=,ENST00000262101,;MSR1,synonymous_variant,p.=,ENST00000445506,;MSR1,intron_variant,,ENST00000350896,NM_138716.2,NM_138715.2;MSR1,intron_variant,,ENST00000355282,;MSR1,downstream_gene_variant,,ENST00000522672,;							LOW	1059/1356		MSRE_HUMAN			Transcript			.	ENSP00000262101		CCDS5995.1			1	
MUC19	0	LGGM	GRCh37	12	40859262	40859262	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	35	12	.	.	ENST00000454784.4:c.3754A>G	p.Thr1252Ala	p.T1252A	ENST00000454784		1252	Aca/Gca	0	1	1	UPI0003B927DE	0	NA	ENST00000454784		ENSG00000205592	14362		47	0		HGNC	p.T1481A		MUC19		SNV							ENST00000425730	protein_coding	getma.org/?cm=var&var=hg19,12,40859262,A,G&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF266		T/A		G	neutral	4487/19628		getma.org/?cm=msa&ty=f&p=MUC19_HUMAN&rb=1061&re=1469&var=T1252A		C9JCE7_HUMAN			YES	MUC19,missense_variant,p.Thr1252Ala,ENST00000454784,;MUC19,3_prime_UTR_variant,,ENST00000425730,;							MODERATE	3754/10893	T1252A				Transcript		benign(0.398)	.	ENSP00000476404					1	
HNRNPK	0	LGGM	GRCh37	9	86586996	86586996	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	3	12	.	.	ENST00000376263.3:c.754G>A	p.Gly252Arg	p.G252R	ENST00000376263	NM_031263.2	252	Gga/Aga	0	1		UPI000013453B	0	NA	ENST00000351839		ENSG00000165119	5044		15	2.14		HGNC	p.G252R		HNRNPK		SNV							ENST00000376281	protein_coding	getma.org/?cm=var&var=hg19,9,86586996,C,T&fts=all		hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF102,Low_complexity_(Seg):seg		G/R		T	medium	861/2652		getma.org/?cm=msa&ty=f&p=HNRPK_HUMAN&rb=210&re=388&var=G252R	deleterious(0.03)	B3KU16_HUMAN				HNRNPK,missense_variant,p.Gly252Arg,ENST00000376263,NM_031263.2;HNRNPK,missense_variant,p.Gly252Arg,ENST00000376281,;HNRNPK,missense_variant,p.Gly252Arg,ENST00000376264,NM_031262.2,NM_002140.3;HNRNPK,missense_variant,p.Gly252Arg,ENST00000351839,;HNRNPK,missense_variant,p.Gly252Arg,ENST00000360384,;HNRNPK,missense_variant,p.Gly228Arg,ENST00000457156,;HNRNPK,upstream_gene_variant,,ENST00000481820,;MIR7-1,upstream_gene_variant,,ENST00000384871,;RP11-575L7.8,upstream_gene_variant,,ENST00000448389,;HNRNPK,downstream_gene_variant,,ENST00000483135,;HNRNPK,upstream_gene_variant,,ENST00000493362,;HNRNPK,downstream_gene_variant,,ENST00000472778,;HNRNPK,downstream_gene_variant,,ENST00000376256,;HNRNPK,upstream_gene_variant,,ENST00000492865,;							MODERATE	754/1392	G252R	HNRPK_HUMAN			Transcript		benign(0.023)	.	ENSP00000317788		CCDS6667.1			1	
FAF2	0	LGGM	GRCh37	5	175926000	175926000	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	12	12	.	.	ENST00000261942.6:c.925A>G	p.Arg309Gly	p.R309G	ENST00000261942	NM_014613.2	309	Aga/Gga	0	1	1	UPI000007478A	0	NA	ENST00000261942		ENSG00000113194	24666		24	2.85		HGNC	p.R309G		FAF2		SNV							ENST00000261942	protein_coding	getma.org/?cm=var&var=hg19,5,175926000,A,G&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF23		R/G		G	medium	978/4515		getma.org/?cm=msa&ty=f&p=FAF2_HUMAN&rb=201&re=355&var=R309G	deleterious(0)				YES	FAF2,missense_variant,p.Arg309Gly,ENST00000261942,NM_014613.2;FAF2,downstream_gene_variant,,ENST00000513627,;FAF2,downstream_gene_variant,,ENST00000504983,;							MODERATE	925/1338	R309G	FAF2_HUMAN			Transcript		benign(0.241)	.	ENSP00000261942		CCDS34296.1			1	
HSPA4	0	LGGM	GRCh37	5	132424124	132424124	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	21	12	.	.	ENST00000304858.2:c.1014G>T	p.Val338=	p.V338=	ENST00000304858	NM_002154.3	338	gtG/gtT	0	1	1	UPI000013E9D5	0		ENST00000304858		ENSG00000170606	5237		33			HGNC	p.V338V		HSPA4		SNV							ENST00000304858	protein_coding			hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF136,PROSITE_patterns:PS01036,Gene3D:3.30.420.40,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301		V		T		1303/4825				Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN			YES	HSPA4,synonymous_variant,p.=,ENST00000304858,NM_002154.3;HSPA4,non_coding_transcript_exon_variant,,ENST00000504328,;							LOW	1014/2523		HSP74_HUMAN			Transcript			.	ENSP00000302961		CCDS4166.1			1	
SGMS1	0	LGGM	GRCh37	10	52071020	52071020	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	20	13	.	.	ENST00000361781.2:c.895+2T>C		p.X299_splice	ENST00000361781	NM_147156.3			0	1	1	UPI000000D9FC	0		ENST00000361781		ENSG00000198964	29799		33			HGNC	-		SGMS1		SNV							ENST00000361781	protein_coding							G		-/3744				R4GNI5_HUMAN,D3DWC4_HUMAN,E6ZCI7_HUMAN			YES	SGMS1,splice_donor_variant,,ENST00000361781,NM_147156.3;SGMS1,splice_donor_variant,,ENST00000429490,;SGMS1,downstream_gene_variant,,ENST00000602619,;							HIGH	895/1242					Transcript			.	ENSP00000354829		CCDS7240.1			1	
HSPA4	0	LGGM	GRCh37	5	132424125	132424125	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	21	13	.	.	ENST00000304858.2:c.1015G>T	p.Glu339Ter	p.E339*	ENST00000304858	NM_002154.3	339	Gag/Tag	0	1	1	UPI000013E9D5	0	NA	ENST00000304858		ENSG00000170606	5237		34	0		HGNC	p.E339X		HSPA4		SNV							ENST00000304858	protein_coding	getma.org/?cm=var&var=hg19,5,132424125,G,T&fts=all		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF136,PROSITE_patterns:PS01036,Gene3D:3.30.420.40,Pfam_domain:PF00012,Superfamily_domains:SSF53067,Prints_domain:PR00301		E/*		T	NA	1304/4825		NA		Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN			YES	HSPA4,stop_gained,p.Glu339Ter,ENST00000304858,NM_002154.3;HSPA4,non_coding_transcript_exon_variant,,ENST00000504328,;							HIGH	1015/2523	E339*	HSP74_HUMAN			Transcript			.	ENSP00000302961		CCDS4166.1			1	
DGKI	0	LGGM	GRCh37	7	137151650	137151650	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	29	13	.	.	ENST00000288490.5:c.2506C>T	p.Gln836Ter	p.Q836*	ENST00000288490	NM_004717.2	836	Cag/Tag	0	1	1	UPI000012DD23	0	NA	ENST00000288490		ENSG00000157680	2855		42	0		HGNC	p.Q818X		DGKI		SNV							ENST00000446122	protein_coding	getma.org/?cm=var&var=hg19,7,137151650,G,A&fts=all		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41		Q/*		A	NA	2507/3895		NA		B3KR69_HUMAN			YES	DGKI,stop_gained,p.Gln546Ter,ENST00000453654,;DGKI,stop_gained,p.Gln849Ter,ENST00000424189,;DGKI,stop_gained,p.Gln818Ter,ENST00000446122,;DGKI,stop_gained,p.Gln836Ter,ENST00000288490,NM_004717.2;DGKI,splice_region_variant,,ENST00000460662,;DGKI,upstream_gene_variant,,ENST00000497321,;							HIGH	2506/3198	Q836*	DGKI_HUMAN			Transcript			.	ENSP00000288490		CCDS5845.1			1	
DGKI	0	LGGM	GRCh37	7	137150727	137150727	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	32	13	.	.	ENST00000288490.5:c.2563C>T	p.Pro855Ser	p.P855S	ENST00000288490	NM_004717.2	855	Cca/Tca	0	1	1	UPI000012DD23	0	NA	ENST00000288490		ENSG00000157680	2855		45	1.935		HGNC	p.P837S		DGKI		SNV							ENST00000446122	protein_coding	getma.org/?cm=var&var=hg19,7,137150727,G,A&fts=all		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41		P/S		A	medium	2564/3895		getma.org/?cm=msa&ty=f&p=DGKI_HUMAN&rb=684&re=883&var=P855S	deleterious(0.04)	B3KR69_HUMAN			YES	DGKI,missense_variant,p.Pro565Ser,ENST00000453654,;DGKI,missense_variant,p.Pro868Ser,ENST00000424189,;DGKI,missense_variant,p.Pro837Ser,ENST00000446122,;DGKI,missense_variant,p.Pro855Ser,ENST00000288490,NM_004717.2;DGKI,non_coding_transcript_exon_variant,,ENST00000460662,;DGKI,non_coding_transcript_exon_variant,,ENST00000497321,;							MODERATE	2563/3198	P855S	DGKI_HUMAN			Transcript		possibly_damaging(0.787)	.	ENSP00000288490		CCDS5845.1			1	
KCNH5	0	LGGM	GRCh37	14	63417146	63417146	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	21	13	.	.	ENST00000322893.7:c.1074G>A	p.Leu358=	p.L358=	ENST00000322893	NM_139318.4	358	ctG/ctA	0	1	1	UPI0000039E2D	0		ENST00000322893		ENSG00000140015	6254		34			HGNC	p.L358L		KCNH5		SNV							ENST00000322893	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		L		T		1343/4175							YES	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,;							LOW	1074/2967		KCNH5_HUMAN			Transcript			.	ENSP00000321427		CCDS9756.1			1	
EEF1A2	0	LGGM	GRCh37	20	62122008	62122008	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	23	14	.	.	ENST00000217182.3:c.853A>G	p.Ile285Val	p.I285V	ENST00000217182	NM_001958.3	285	Atc/Gtc	0	1	1	UPI0000000136	0	getma.org/pdb.php?prot=EF1A2_HUMAN&from=260&to=327&var=I285V	ENST00000217182		ENSG00000101210	3192		37	-0.22		HGNC	p.I285V		EEF1A2		SNV			1				ENST00000298049	protein_coding	getma.org/?cm=var&var=hg19,20,62122008,T,C&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF104,Gene3D:2.40.30.10,TIGRFAM_domain:TIGR00483,Pfam_domain:PF03144,Superfamily_domains:SSF50447		I/V		C	neutral	1019/1843		getma.org/?cm=msa&ty=f&p=EF1A2_HUMAN&rb=260&re=327&var=I285V	tolerated_low_confidence(1)				YES	EEF1A2,missense_variant,p.Ile285Val,ENST00000217182,NM_001958.3;EEF1A2,missense_variant,p.Ile285Val,ENST00000298049,;							MODERATE	853/1392	I285V	EF1A2_HUMAN			Transcript		benign(0.002)	.	ENSP00000217182		CCDS13522.1			1	
DIMT1	0	LGGM	GRCh37	5	61699157	61699157	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	33	14	.	.	ENST00000199320.4:c.96G>A	p.Thr32=	p.T32=	ENST00000199320	NM_014473.2	32	acG/acA	0	1	1	UPI00001293E2	0		ENST00000199320		ENSG00000086189	30217		47			HGNC	p.T32T		DIMT1		SNV							ENST00000199320	protein_coding			PROSITE_profiles:PS51689,hmmpanther:PTHR11727,TIGRFAM_domain:TIGR00755,Gene3D:3.40.50.150,Pfam_domain:PF00398,Superfamily_domains:SSF53335		T		T		257/2859				B4DRY2_HUMAN			YES	DIMT1,synonymous_variant,p.=,ENST00000199320,NM_014473.2;DIMT1,synonymous_variant,p.=,ENST00000506390,;IPO11,upstream_gene_variant,,ENST00000514647,;KIF2A,intron_variant,,ENST00000509663,;DIMT1,synonymous_variant,p.=,ENST00000514911,;DIMT1,non_coding_transcript_exon_variant,,ENST00000509182,;IPO11,upstream_gene_variant,,ENST00000424533,;							LOW	96/942		DIM1_HUMAN			Transcript			.	ENSP00000199320		CCDS3981.1			1	
NDST3	0	LGGM	GRCh37	4	118975482	118975482	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	3	15	.	.	ENST00000296499.5:c.417T>A	p.Tyr139Ter	p.Y139*	ENST00000296499	NM_004784.2	139	taT/taA	0	1	1	UPI0000071C44	0	NA	ENST00000296499		ENSG00000164100	7682		18	0		HGNC	p.Y139X		NDST3		SNV							ENST00000296499	protein_coding	getma.org/?cm=var&var=hg19,4,118975482,T,A&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15		Y/*		A	NA	820/5961		NA					YES	NDST3,stop_gained,p.Tyr139Ter,ENST00000296499,NM_004784.2;NDST3,stop_gained,p.Tyr139Ter,ENST00000433996,;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;							HIGH	417/2622	Y139*	NDST3_HUMAN			Transcript			.	ENSP00000296499		CCDS3708.1			1	
RNF213	0	LGGM	GRCh37	17	78336946	78336946	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	25	15	.	.	ENST00000582970.1:c.11400G>T	p.Ala3800=	p.A3800=	ENST00000582970	NM_001256071.1	3800	gcG/gcT	0	1	1	UPI0001D3BDB1	0		ENST00000582970		ENSG00000173821	14539		40			HGNC	p.A3849A		RNF213		SNV			1				ENST00000508628	protein_coding			hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		A		T		11543/21055				H3BLU6_HUMAN			YES	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.1;RNF213,synonymous_variant,p.=,ENST00000508628,;RNF213,synonymous_variant,p.=,ENST00000336301,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,;RNF213,upstream_gene_variant,,ENST00000559603,;RNF213,downstream_gene_variant,,ENST00000560694,;RNF213,upstream_gene_variant,,ENST00000558488,;							LOW	11400/15624		RN213_HUMAN			Transcript			.	ENSP00000464087		CCDS58606.1			1	
ZNF43	0	LGGM	GRCh37	19	21990594	21990594	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	37	15	.	.	ENST00000354959.4:c.2245C>G	p.Leu749Val	p.L749V	ENST00000354959	NM_003423.3	749	Ctt/Gtt	0	1	1	UPI00001BD957	0	getma.org/pdb.php?prot=ZNF43_HUMAN&from=748&to=773&var=L749V	ENST00000354959		ENSG00000198521	13109		52	2.65		HGNC	p.L743V		ZNF43		SNV							ENST00000598381	protein_coding	getma.org/?cm=var&var=hg19,19,21990594,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/V		C	medium	2415/2881		getma.org/?cm=msa&ty=f&p=ZNF43_HUMAN&rb=728&re=793&var=L749V	deleterious(0.02)	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN			YES	ZNF43,missense_variant,p.Leu743Val,ENST00000594012,NM_001256649.1,NM_001256654.1,NM_001256653.1,NM_001256651.1;ZNF43,missense_variant,p.Leu743Val,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Leu743Val,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Leu749Val,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;							MODERATE	2245/2430	L749V	ZNF43_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000347045		CCDS12413.2			1	
HELZ	0	LGGM	GRCh37	17	65174873	65174873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	28	16	.	.	ENST00000358691.5:c.1332G>T	p.Gln444His	p.Q444H	ENST00000358691	NM_014877.3	444	caG/caT	0	1	1	UPI000013D7F5	0	NA	ENST00000358691		ENSG00000198265	16878		44	1.935		HGNC	p.Q444H		HELZ		SNV							ENST00000417253	protein_coding	getma.org/?cm=var&var=hg19,17,65174873,C,A&fts=all		hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887		Q/H		A	medium	1499/13810		getma.org/?cm=msa&ty=f&p=HELZ_HUMAN&rb=406&re=605&var=Q444H	deleterious(0.04)	J3KT20_HUMAN,J3KS59_HUMAN			YES	HELZ,missense_variant,p.Gln444His,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Gln444His,ENST00000580168,;HELZ,missense_variant,p.Gln132His,ENST00000578783,;HELZ,non_coding_transcript_exon_variant,,ENST00000578938,;HELZ,missense_variant,p.Gln444His,ENST00000579953,;HELZ,missense_variant,p.Gln444His,ENST00000417253,;							MODERATE	1332/5829	Q444H	HELZ_HUMAN			Transcript		benign(0.074)	.	ENSP00000351524		CCDS42374.1			1	
DYNC2H1	0	LGGM	GRCh37	11	102991694	102991694	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	31	16	.	.	ENST00000398093.3:c.1289G>A	p.Arg430His	p.R430H	ENST00000398093		430	cGt/cAt	0	1		UPI0000418CA2	0	NA	ENST00000375735		ENSG00000187240	2962	0.00147	47	2.03		HGNC	p.R430H	rs770380730	DYNC2H1	0.000397	SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,102991694,G,A&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		R/H		A	medium	1433/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=188&re=676&var=R430H						DYNC2H1,missense_variant,p.Arg430His,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Arg430His,ENST00000398093,;DYNC2H1,missense_variant,p.Arg430His,ENST00000334267,;							MODERATE	1289/12924	R430H	DYHC2_HUMAN			Transcript		possibly_damaging(0.825)	common_variant	ENSP00000364887	9.94E-05	CCDS53701.1			1	
IKZF2	0	LGGM	GRCh37	2	213872136	213872136	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	57	16	.	.	ENST00000457361.1:c.1529A>G	p.Asp510Gly	p.D510G	ENST00000457361	NM_016260.2	510	gAc/gGc	0	1		UPI000013D4DA	0	NA	ENST00000434687		ENSG00000030419	13177		73	2.09		HGNC	p.D516G		IKZF2		SNV							ENST00000342002	protein_coding	getma.org/?cm=var&var=hg19,2,213872136,T,C&fts=all		hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404,SMART_domains:SM00355,Superfamily_domains:SSF57667		D/G		C	medium	1839/3888		getma.org/?cm=msa&ty=f&p=IKZF2_HUMAN&rb=408&re=526&var=D510G	deleterious(0)	Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN				IKZF2,missense_variant,p.Asp510Gly,ENST00000457361,NM_016260.2;IKZF2,missense_variant,p.Asp510Gly,ENST00000434687,;IKZF2,missense_variant,p.Asp516Gly,ENST00000342002,;IKZF2,missense_variant,p.Asp484Gly,ENST00000374319,NM_001079526.1;IKZF2,missense_variant,p.Asp438Gly,ENST00000451136,;IKZF2,missense_variant,p.Asp436Gly,ENST00000421754,;IKZF2,missense_variant,p.Asp365Gly,ENST00000374327,;IKZF2,3_prime_UTR_variant,,ENST00000413091,;AC079610.1,intron_variant,,ENST00000415387,;IKZF2,3_prime_UTR_variant,,ENST00000431520,;IKZF2,3_prime_UTR_variant,,ENST00000439848,;IKZF2,3_prime_UTR_variant,,ENST00000412444,;IKZF2,3_prime_UTR_variant,,ENST00000453575,;IKZF2,3_prime_UTR_variant,,ENST00000374326,;IKZF2,non_coding_transcript_exon_variant,,ENST00000484040,;							MODERATE	1529/1581	D510G	IKZF2_HUMAN			Transcript		benign(0.437)	.	ENSP00000412869		CCDS2395.1			1	
CRTAC1	0	LGGM	GRCh37	10	99640021	99640021	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	32	16	.	.	ENST00000370597.3:c.1804G>A	p.Gly602Ser	p.G602S	ENST00000370597	NM_018058.6	602	Ggc/Agc	0	1	1	UPI000006D454	0	NA	ENST00000370597		ENSG00000095713	14882		48	2.595		HGNC	p.G602S		CRTAC1		SNV							ENST00000370591	protein_coding	getma.org/?cm=var&var=hg19,10,99640021,C,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,Superfamily_domains:SSF57196		G/S		T	medium	2160/2890		getma.org/?cm=msa&ty=f&p=CRAC1_HUMAN&rb=559&re=605&var=G602S	deleterious_low_confidence(0.02)				YES	CRTAC1,missense_variant,p.Gly602Ser,ENST00000370597,NM_018058.6;CRTAC1,missense_variant,p.Met587Ile,ENST00000298819,;CRTAC1,missense_variant,p.Gly602Ser,ENST00000370591,NM_001206528.2;CRTAC1,missense_variant,p.Met483Ile,ENST00000413387,;CRTAC1,missense_variant,p.Gly594Ser,ENST00000309155,;CRTAC1,missense_variant,p.Met56Ile,ENST00000436034,;AL139239.1,upstream_gene_variant,,ENST00000583345,;CRTAC1,downstream_gene_variant,,ENST00000468549,;							MODERATE	1804/1986	G602S	CRAC1_HUMAN			Transcript		possibly_damaging(0.753)	.	ENSP00000359629		CCDS31266.1			1	
IRF2	0	LGGM	GRCh37	4	185339768	185339768	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	7	17	.	.	ENST00000393593.3:c.282C>G	p.Val94=	p.V94=	ENST00000393593	NM_002199.3	94	gtC/gtG	0	1	1	UPI000012D888	0		ENST00000393593		ENSG00000168310	6117		24			HGNC	p.V6V		IRF2		SNV							ENST00000502750	protein_coding			Prints_domain:PR00267,Superfamily_domains:SSF46785,PIRSF_domain:PIRSF038196,SMART_domains:SM00348,Gene3D:1.10.10.10,Pfam_domain:PF00605,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF22,PROSITE_profiles:PS51507		V		C		490/2303				K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN			YES	IRF2,synonymous_variant,p.=,ENST00000393593,NM_002199.3;IRF2,synonymous_variant,p.=,ENST00000507523,;IRF2,synonymous_variant,p.=,ENST00000510814,;IRF2,synonymous_variant,p.=,ENST00000506230,;IRF2,synonymous_variant,p.=,ENST00000502750,;IRF2,upstream_gene_variant,,ENST00000505067,;IRF2,non_coding_transcript_exon_variant,,ENST00000512020,;IRF2,3_prime_UTR_variant,,ENST00000509274,;							LOW	282/1050		IRF2_HUMAN			Transcript			.	ENSP00000377218		CCDS3835.1			1	
PUS7L	0	LGGM	GRCh37	12	44148479	44148479	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	27	17	.	.	ENST00000416848.2:c.570A>T	p.Gly190=	p.G190=	ENST00000416848	NM_001098615.1	190	ggA/ggT	0	1		UPI0000037C53	0		ENST00000344862		ENSG00000129317	25276		44			HGNC	p.G190G		PUS7L		SNV							ENST00000551923	protein_coding			hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF5,PIRSF_domain:PIRSF037016		G		A		674/3974				F8VZA0_HUMAN,F8VWC0_HUMAN,F8VW99_HUMAN,F8VP66_HUMAN,B3KUJ1_HUMAN				PUS7L,synonymous_variant,p.=,ENST00000416848,NM_001098615.1;PUS7L,synonymous_variant,p.=,ENST00000344862,NM_031292.4;PUS7L,synonymous_variant,p.=,ENST00000551923,NM_001098614.2;PUS7L,synonymous_variant,p.=,ENST00000553166,;PUS7L,intron_variant,,ENST00000431332,NM_001271826.1;PUS7L,intron_variant,,ENST00000550784,;PUS7L,intron_variant,,ENST00000547156,;IRAK4,upstream_gene_variant,,ENST00000431837,NM_001145256.1,NM_001145257.1;IRAK4,upstream_gene_variant,,ENST00000448290,NM_016123.3;IRAK4,upstream_gene_variant,,ENST00000551736,NM_001114182.2;IRAK4,upstream_gene_variant,,ENST00000440781,NM_001145258.1;PUS7L,downstream_gene_variant,,ENST00000549868,;IRAK4,upstream_gene_variant,,ENST00000550616,;IRAK4,upstream_gene_variant,,ENST00000547521,;IRAK4,upstream_gene_variant,,ENST00000550386,;IRAK4,upstream_gene_variant,,ENST00000547101,;IRAK4,upstream_gene_variant,,ENST00000550615,;IRAK4,upstream_gene_variant,,ENST00000552309,;IRAK4,upstream_gene_variant,,ENST00000550361,;IRAK4,upstream_gene_variant,,ENST00000546780,;							LOW	570/2106		PUS7L_HUMAN			Transcript			.	ENSP00000343081		CCDS8743.1			1	
FER	0	LGGM	GRCh37	5	108168550	108168550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	34	17	.	.	ENST00000281092.4:c.287C>T	p.Pro96Leu	p.P96L	ENST00000281092	NM_005246.2	96	cCt/cTt	0	1	1	UPI000013DC55	0	getma.org/pdb.php?prot=FER_HUMAN&from=93&to=159&var=P96L	ENST00000281092		ENSG00000151422	3655		51	1.545		HGNC	p.P96L		FER		SNV							ENST00000281092	protein_coding	getma.org/?cm=var&var=hg19,5,108168550,C,T&fts=all		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF227,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF103657		P/L		T	low	671/12119		getma.org/?cm=msa&ty=f&p=FER_HUMAN&rb=93&re=159&var=P96L	tolerated(0.09)				YES	FER,missense_variant,p.Pro96Leu,ENST00000281092,NM_005246.2;FER,missense_variant,p.Pro96Leu,ENST00000536402,;FER,intron_variant,,ENST00000438717,;CTD-2197I11.1,upstream_gene_variant,,ENST00000510935,;FER,non_coding_transcript_exon_variant,,ENST00000502752,;FER,non_coding_transcript_exon_variant,,ENST00000509035,;FER,downstream_gene_variant,,ENST00000513676,;FER,intron_variant,,ENST00000504143,;							MODERATE	287/2469	P96L	FER_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000281092		CCDS4098.1			1	
SLC22A2	0	LGGM	GRCh37	6	160663374	160663374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	37	17	.	.	ENST00000366953.3:c.1340A>T	p.Tyr447Phe	p.Y447F	ENST00000366953	NM_003058.3	447	tAt/tTt	0	1	1	UPI000013D5BB	0	NA	ENST00000366953		ENSG00000112499	10966		54	-0.865		HGNC	p.Y447F		SLC22A2		SNV							ENST00000366953	protein_coding	getma.org/?cm=var&var=hg19,6,160663374,T,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF173,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Transmembrane_helices:TMhelix		Y/F		A	neutral	1599/2597		getma.org/?cm=msa&ty=f&p=S22A2_HUMAN&rb=60&re=529&var=Y447F	tolerated(1)	Q5T7Q5_HUMAN			YES	SLC22A2,missense_variant,p.Tyr447Phe,ENST00000366953,NM_003058.3;SLC22A2,downstream_gene_variant,,ENST00000366952,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000491092,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000486916,;							MODERATE	1340/1668	Y447F	S22A2_HUMAN			Transcript		benign(0.004)	.	ENSP00000355920		CCDS5276.1			1	
GPR21	0	LGGM	GRCh37	9	125796973	125796973	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	7	18	.	.	ENST00000373642.1:c.128T>A	p.Ile43Asn	p.I43N	ENST00000373642	NM_005294.2	43	aTt/aAt	0	1	1	UPI00000315CA	0	NA	ENST00000373642		ENSG00000188394	4476		25	0.975		HGNC	p.I43N		GPR21		SNV							ENST00000373642	protein_coding	getma.org/?cm=var&var=hg19,9,125796973,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF252,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/N		A	low	168/1170		getma.org/?cm=msa&ty=f&p=GPR21_HUMAN&rb=1&re=44&var=I43N	deleterious(0)	H9NIL4_HUMAN			YES	GPR21,missense_variant,p.Ile43Asn,ENST00000373642,NM_005294.2;RABGAP1,intron_variant,,ENST00000373647,NM_012197.3;RABGAP1,intron_variant,,ENST00000373643,;RABGAP1,intron_variant,,ENST00000493854,;RABGAP1,intron_variant,,ENST00000475607,;RABGAP1,downstream_gene_variant,,ENST00000468760,;RABGAP1,intron_variant,,ENST00000456584,;RP11-355O1.7,upstream_gene_variant,,ENST00000392902,;							MODERATE	128/1050	I43N	GPR21_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000362746		CCDS6849.1			1	
ZP4	0	LGGM	GRCh37	1	238050791	238050791	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	39	19	.	.	ENST00000366570.4:c.624G>T	p.Leu208=	p.L208=	ENST00000366570	NM_021186.3	208	ctG/ctT	0	1	1	UPI000006F0E4	0		ENST00000366570		ENSG00000116996	15770		58			HGNC	p.L208L		ZP4		SNV							ENST00000366570	protein_coding			SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31,PROSITE_profiles:PS51034		L		A		783/1799							YES	ZP4,synonymous_variant,p.=,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;							LOW	624/1623		ZP4_HUMAN			Transcript			.	ENSP00000355529		CCDS1615.1			1	
MYT1	0	LGGM	GRCh37	20	62839690	62839690	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	24	19	.	.	ENST00000328439.1:c.1141C>T	p.Leu381=	p.L381=	ENST00000328439	NM_004535.2	381	Ctg/Ttg	0	1	1	UPI000012FBFA	0		ENST00000328439		ENSG00000196132	7622		43			HGNC	p.L381L		MYT1		SNV							ENST00000536311	protein_coding			hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10		L		T		1505/5533							YES	MYT1,synonymous_variant,p.=,ENST00000536311,;MYT1,synonymous_variant,p.=,ENST00000328439,NM_004535.2;MYT1,intron_variant,,ENST00000360149,;							LOW	1141/3366		MYT1_HUMAN			Transcript			.	ENSP00000327465		CCDS13558.1			1	
STK17A	0	LGGM	GRCh37	7	43664273	43664273	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	35	19	.	.	ENST00000319357.5:c.1077A>G	p.Ser359=	p.S359=	ENST00000319357	NM_004760.2	359	tcA/tcG	0	1	1	UPI00001405A1	0		ENST00000319357		ENSG00000164543	11395		54			HGNC	p.S359S		STK17A		SNV							ENST00000319357	protein_coding			hmmpanther:PTHR24342,hmmpanther:PTHR24342:SF6		S		G		1256/3368				Q86UI9_HUMAN,Q75MK4_HUMAN			YES	STK17A,synonymous_variant,p.=,ENST00000319357,NM_004760.2;STK17A,downstream_gene_variant,,ENST00000462448,;STK17A,non_coding_transcript_exon_variant,,ENST00000474211,;COA1,intron_variant,,ENST00000415076,;COA1,intron_variant,,ENST00000446330,;COA1,intron_variant,,ENST00000446564,;							LOW	1077/1245		ST17A_HUMAN			Transcript			.	ENSP00000319192		CCDS5470.1			1	
TRERF1	0	LGGM	GRCh37	6	42196350	42196350	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	253	20	.	.	ENST00000372922.4:c.3336G>A	p.Glu1112=	p.E1112=	ENST00000372922	NM_033502.2	1112	gaG/gaA	0	1	1	UPI0000052952	0		ENST00000372922		ENSG00000124496	18273		273			HGNC	p.E1041E		TRERF1		SNV							ENST00000340840	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50157,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089		E		T		3899/7286							YES	TRERF1,synonymous_variant,p.=,ENST00000541110,;TRERF1,synonymous_variant,p.=,ENST00000372917,;TRERF1,synonymous_variant,p.=,ENST00000372922,NM_033502.2;TRERF1,synonymous_variant,p.=,ENST00000340840,;TRERF1,synonymous_variant,p.=,ENST00000354325,;							LOW	3336/3603		TREF1_HUMAN			Transcript			.	ENSP00000362013		CCDS4867.1			1	
GJB2	0	LGGM	GRCh37	13	20763291	20763291	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	11	21	.	.	ENST00000382844.1:c.430G>T	p.Val144Phe	p.V144F	ENST00000382844		144	Gtc/Ttc	0	1	1	UPI000006D6A3	0	getma.org/pdb.php?prot=CXB2_HUMAN&from=109&to=145&var=V144F	ENST00000382844		ENSG00000165474	4284		32	0.55		HGNC	p.V144F		GJB2		SNV			1				ENST00000382848	protein_coding	getma.org/?cm=var&var=hg19,13,20763291,C,A&fts=all		Gene3D:2zw3A00,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF46,Transmembrane_helices:TMhelix		V/F		A	neutral	629/2309		getma.org/?cm=msa&ty=f&p=CXB2_HUMAN&rb=109&re=145&var=V144F	tolerated(0.07)	H9U1J4_HUMAN			YES	GJB2,missense_variant,p.Val144Phe,ENST00000382844,;GJB2,missense_variant,p.Val144Phe,ENST00000382848,NM_004004.5;							MODERATE	430/681	V144F	CXB2_HUMAN			Transcript		benign(0.07)	.	ENSP00000372295		CCDS9290.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H060670	H060670N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	106	75	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			181		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
KIAA1549	0	LGGM	GRCh37	7	138603774	138603774	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	110	22	.	.	ENST00000422774.1:c.598A>T	p.Met200Leu	p.M200L	ENST00000422774		200	Atg/Ttg	0	1	1	UPI0001837EBD	0	NA	ENST00000422774		ENSG00000122778	22219		132	0		HGNC	p.M150L		KIAA1549		SNV			1				ENST00000242365	protein_coding	getma.org/?cm=var&var=hg19,7,138603774,T,A&fts=all		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4		M/L		A	neutral	647/6283		getma.org/?cm=msa&ty=f&p=K1549_HUMAN&rb=1&re=1029&var=M200L	tolerated(0.2)				YES	KIAA1549,missense_variant,p.Met200Leu,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,missense_variant,p.Met150Leu,ENST00000242365,;KIAA1549,missense_variant,p.Met200Leu,ENST00000422774,;							MODERATE	598/5853	M200L	K1549_HUMAN			Transcript		benign(0.001)	.	ENSP00000416040		CCDS56513.1			1	
OR8D1	0	LGGM	GRCh37	11	124180481	124180481	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	50	22	.	.	ENST00000357821.2:c.182A>G	p.Tyr61Cys	p.Y61C	ENST00000357821	NM_001002917.1	61	tAt/tGt	0	1	1	UPI0000041D9D	0	getma.org/pdb.php?prot=OR8D1_HUMAN&from=1&to=138&var=Y61C	ENST00000357821		ENSG00000196341	8481		72	2.21		HGNC	p.Y61C		OR8D1		SNV							ENST00000357821	protein_coding	getma.org/?cm=var&var=hg19,11,124180481,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF66,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/C		C	medium	253/1026		getma.org/?cm=msa&ty=f&p=OR8D1_HUMAN&rb=1&re=138&var=Y61C	deleterious(0.02)				YES	OR8D1,missense_variant,p.Tyr61Cys,ENST00000357821,NM_001002917.1;							MODERATE	182/927	Y61C	OR8D1_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000350474		CCDS31706.1			1	
TRAPPC9	0	LGGM	GRCh37	8	141449231	141449231	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	23	22	.	.	ENST00000389328.4:c.944G>A	p.Gly315Glu	p.G315E	ENST00000389328	NM_031466.5	315	gGg/gAg	0	1		UPI00001A46C7	0	NA	ENST00000438773		ENSG00000167632	30832		45	2.275		HGNC	p.G217E		TRAPPC9		SNV			1				ENST00000389327	protein_coding	getma.org/?cm=var&var=hg19,8,141449231,C,T&fts=all		Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11		G/E		T	medium	784/4297		getma.org/?cm=msa&ty=f&p=TPPC9_HUMAN&rb=1&re=1108&var=G217E	deleterious(0)					TRAPPC9,missense_variant,p.Gly315Glu,ENST00000389328,NM_031466.5;TRAPPC9,missense_variant,p.Gly217Glu,ENST00000438773,NM_001160372.1;TRAPPC9,missense_variant,p.Gly217Glu,ENST00000389327,;TRAPPC9,missense_variant,p.Gly70Glu,ENST00000520857,;TRAPPC9,upstream_gene_variant,,ENST00000521944,;							MODERATE	650/3447	G217E	TPPC9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000405060		CCDS55278.1			1	
PARP4	0	LGGM	GRCh37	13	25008738	25008738	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	15	23	.	.	ENST00000381989.3:c.4541C>T	p.Pro1514Leu	p.P1514L	ENST00000381989	NM_006437.3	1514	cCt/cTt	0	1	1	UPI000013C76E	0	NA	ENST00000381989		ENSG00000102699	271		38	0		HGNC	p.P1514L		PARP4		SNV							ENST00000381989	protein_coding	getma.org/?cm=var&var=hg19,13,25008738,G,A&fts=all		hmmpanther:PTHR10338:SF7,hmmpanther:PTHR10338		P/L		A	neutral	4647/5474		getma.org/?cm=msa&ty=f&p=PARP4_HUMAN&rb=1444&re=1643&var=P1514L	tolerated(0.31)				YES	PARP4,missense_variant,p.Pro1514Leu,ENST00000381989,NM_006437.3;TPTE2P6,intron_variant,,ENST00000445572,;							MODERATE	4541/5175	P1514L	PARP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000371419		CCDS9307.1			1	
ZBTB10	0	LGGM	GRCh37	8	81431709	81431709	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	34	24	.	.	ENST00000430430.1:c.2562T>C	p.Asn854=	p.N854=	ENST00000430430		854	aaT/aaC	0	1	1	UPI0000E5AEF3	0		ENST00000430430		ENSG00000205189	30953		58			HGNC	p.N854N		ZBTB10		SNV							ENST00000430430	protein_coding			hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27		N		C		3341/10132							YES	ZBTB10,synonymous_variant,p.=,ENST00000430430,;ZBTB10,synonymous_variant,p.=,ENST00000426744,NM_023929.4;ZBTB10,synonymous_variant,p.=,ENST00000455036,NM_001105539.2;ZBTB10,synonymous_variant,p.=,ENST00000379091,NM_001277145.1;							LOW	2562/2616		ZBT10_HUMAN			Transcript			.	ENSP00000387462		CCDS47880.1			1	
SEZ6L2	0	LGGM	GRCh37	16	29907104	29907104	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	28	26	.	.	ENST00000308713.5:c.589C>G	p.Leu197Val	p.L197V	ENST00000308713	NM_001114099.2	197	Ctg/Gtg	0	1	1	UPI0000366B1B	0	NA	ENST00000308713		ENSG00000174938	30844		54	1.1		HGNC	p.L197V		SEZ6L2		SNV							ENST00000308713	protein_coding	getma.org/?cm=var&var=hg19,16,29907104,G,C&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		L/V		C	low	1117/3801		getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=173&re=283&var=L197V	tolerated(0.5)	B3KNF3_HUMAN			YES	SEZ6L2,missense_variant,p.Leu197Val,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Leu127Val,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Leu153Val,ENST00000537485,NM_001243333.1;SEZ6L2,intron_variant,,ENST00000346932,NM_001114100.2;ASPHD1,upstream_gene_variant,,ENST00000308748,NM_181718.3;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,downstream_gene_variant,,ENST00000568380,;SEZ6L2,intron_variant,,ENST00000562159,;							MODERATE	589/2733	L197V	SE6L2_HUMAN			Transcript		benign(0.005)	.	ENSP00000312550		CCDS10659.1			1	
EHBP1	0	LGGM	GRCh37	2	63223842	63223842	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	29	27	.	.	ENST00000263991.5:c.3257A>G	p.Lys1086Arg	p.K1086R	ENST00000263991	NM_015252.3	1086	aAg/aGg	0	1	1	UPI000013D49A	0	NA	ENST00000263991		ENSG00000115504	29144		56	-0.125		HGNC	p.K1086R		EHBP1		SNV			1				ENST00000263991	protein_coding	getma.org/?cm=var&var=hg19,2,63223842,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124,Pfam_domain:PF12130		K/R		G	neutral	3739/5165		getma.org/?cm=msa&ty=f&p=EHBP1_HUMAN&rb=1068&re=1212&var=K1086R	tolerated(0.42)	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN			YES	EHBP1,missense_variant,p.Lys1086Arg,ENST00000263991,NM_015252.3;EHBP1,missense_variant,p.Lys1015Arg,ENST00000431489,NM_001142616.1;EHBP1,missense_variant,p.Lys1051Arg,ENST00000354487,NM_001142614.1;EHBP1,missense_variant,p.Lys1015Arg,ENST00000405015,NM_001142615.2;EHBP1,missense_variant,p.Lys1051Arg,ENST00000405289,;EHBP1,downstream_gene_variant,,ENST00000422032,;EHBP1,non_coding_transcript_exon_variant,,ENST00000496857,;EHBP1,downstream_gene_variant,,ENST00000491965,;							MODERATE	3257/3696	K1086R	EHBP1_HUMAN			Transcript		benign(0.074)	.	ENSP00000263991		CCDS1872.1			1	
HIST1H2BL	0	LGGM	GRCh37	6	27775602	27775602	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	106	29	.	.	ENST00000377401.2:c.83A>T	p.Lys28Met	p.K28M	ENST00000377401	NM_003519.3	28	aAg/aTg	0	1	1	UPI0000001BD6	0	getma.org/pdb.php?prot=H2B1L_HUMAN&from=1&to=31&var=K28M	ENST00000377401		ENSG00000185130	4748		135	3.29		HGNC	p.K28M		HIST1H2BL		SNV							ENST00000377401	protein_coding	getma.org/?cm=var&var=hg19,6,27775602,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113		K/M		A	medium	108/453		getma.org/?cm=msa&ty=f&p=H2B1L_HUMAN&rb=1&re=31&var=K28M	deleterious_low_confidence(0.01)				YES	HIST1H2BL,missense_variant,p.Lys28Met,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,;							MODERATE	83/381	K28M	H2B1L_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000366618		CCDS4625.1			1	
NAMPTL	0	LGGM	GRCh37	10	36812632	36812632	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	52	31	.	.	ENST00000440465.1:c.531A>T	p.Arg177Ser	p.R177S	ENST00000440465		177	agA/agT	0	1	1	UPI00004701B5	0		ENST00000440465		ENSG00000229644	17633		83			HGNC	p.R177S		NAMPTL		SNV							ENST00000440465	protein_coding			hmmpanther:PTHR11098:SF2,hmmpanther:PTHR11098,Pfam_domain:PF04095,Gene3D:3.20.140.10,PIRSF_domain:PIRSF005943,Superfamily_domains:SSF51690		R/S		A		531/2514			deleterious(0)	Q658Z1_HUMAN,Q5SYT8_HUMAN,F5H246_HUMAN			YES	NAMPTL,missense_variant,p.Arg177Ser,ENST00000440465,;NAMPTL,upstream_gene_variant,,ENST00000543053,;							MODERATE	531/1419					Transcript		probably_damaging(0.971)	.	ENSP00000407952					1	
FCRL2	0	LGGM	GRCh37	1	157737403	157737403	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	27	34	.	.	ENST00000361516.3:c.884-104C>T		*295*	ENST00000361516	NM_030764.3			0	1	1	UPI000006E1F3	0		ENST00000361516		ENSG00000132704	14875		61			HGNC	p.C7C		FCRL2		SNV							ENST00000469986	protein_coding							A		-/2579							YES	FCRL2,synonymous_variant,p.=,ENST00000469986,;FCRL2,intron_variant,,ENST00000361516,NM_030764.3;FCRL2,intron_variant,,ENST00000368181,;FCRL2,intron_variant,,ENST00000392274,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,downstream_gene_variant,,ENST00000462774,;							MODIFIER	-/1527		FCRL2_HUMAN			Transcript			.	ENSP00000355157		CCDS1168.1			1	
REEP3	0	LGGM	GRCh37	10	65370019	65370019	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	63	35	.	.	ENST00000373758.4:c.490C>T	p.Pro164Ser	p.P164S	ENST00000373758	NM_001001330.2	164	Cct/Tct	0	1	1	UPI00000373BA	0	NA	ENST00000373758		ENSG00000165476	23711		98	1.245		HGNC	p.P149S		REEP3		SNV							ENST00000298249	protein_coding	getma.org/?cm=var&var=hg19,10,65370019,C,T&fts=all		hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF39		P/S		T	low	673/5205		getma.org/?cm=msa&ty=f&p=REEP3_HUMAN&rb=97&re=255&var=P164S	tolerated(0.17)				YES	REEP3,missense_variant,p.Pro164Ser,ENST00000373758,NM_001001330.2;REEP3,missense_variant,p.Pro149Ser,ENST00000298249,;							MODERATE	490/768	P164S	REEP3_HUMAN			Transcript		benign(0.006)	.	ENSP00000362863		CCDS44411.1			1	
PRKDC	0	LGGM	GRCh37	8	48776054	48776054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	64	38	.	.	ENST00000314191.2:c.5653A>G	p.Lys1885Glu	p.K1885E	ENST00000314191	NM_006904.6	1885	Aaa/Gaa	0	1	1	UPI000045790C	0	NA	ENST00000314191		ENSG00000253729	9413		102	2.045		HGNC	p.K1885E		PRKDC		SNV			1				ENST00000314191	protein_coding	getma.org/?cm=var&var=hg19,8,48776054,T,C&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF08163		K/E		C	medium	5710/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=1813&re=2210&var=K1886E		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Lys1885Glu,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Lys1885Glu,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000546304,;							MODERATE	5653/12384	K1886E	PRKDC_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000313420					1	
KIAA1009	0	LGGM	GRCh37	6	84862536	84862536	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	98	39	.	.	ENST00000403245.3:c.3357A>G	p.Leu1119=	p.L1119=	ENST00000403245	NM_014895.2	1119	ctA/ctG	0	1	1	UPI0001533DAA	0		ENST00000403245		ENSG00000135315	21107		137			HGNC	p.L1119L	rs764707783	KIAA1009		SNV							ENST00000403245	protein_coding			Coiled-coils_(Ncoils):Coil		L		C		3472/5156				B3KN48_HUMAN			YES	KIAA1009,synonymous_variant,p.=,ENST00000403245,NM_014895.2;KIAA1009,synonymous_variant,p.=,ENST00000257766,NM_001286206.1;KIAA1009,non_coding_transcript_exon_variant,,ENST00000461137,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000487999,;	0.000117						LOW	3357/4212		CE162_HUMAN			Transcript			.	ENSP00000385215	8.24E-06	CCDS34494.2			1	
PLG	0	LGGM	GRCh37	6	161132158	161132158	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	89	40	.	.	ENST00000308192.9:c.342G>A	p.Thr114=	p.T114=	ENST00000308192	NM_000301.3	114	acG/acA	0	1	1	UPI000000D8B8	0		ENST00000308192		ENSG00000122194	9071		129			HGNC	p.T114T	rs776970597	PLG	6.07E-05	SNV			1				ENST00000366924	protein_coding			Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF001150,PROSITE_profiles:PS50070,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,SMART_domains:SM00130,Superfamily_domains:SSF57440		T		A		405/2741	1.50E-05			Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN			YES	PLG,synonymous_variant,p.=,ENST00000308192,NM_000301.3;PLG,synonymous_variant,p.=,ENST00000366924,NM_001168338.1;PLG,synonymous_variant,p.=,ENST00000418964,;PLG,non_coding_transcript_exon_variant,,ENST00000462918,;PLG,non_coding_transcript_exon_variant,,ENST00000494325,;PLG,intron_variant,,ENST00000297289,;PLG,downstream_gene_variant,,ENST00000483038,;PLG,non_coding_transcript_exon_variant,,ENST00000484367,;PLG,downstream_gene_variant,,ENST00000471691,;	0.000463						LOW	342/2433		PLMN_HUMAN			Transcript			common_variant	ENSP00000308938	4.94E-05	CCDS5279.1			1	
AL136418.1	0	LGGM	GRCh37	14	31778302	31778302	+	upstream_gene_variant	5'Flank	SNP	A	A	C	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	73	40	.	.				ENST00000582500				0	1	1		0	NA	ENST00000582500		ENSG00000263784			113	2.73	1217	Clone_based_ensembl_gene	p.L1217V		AL136418.1		SNV							ENST00000439727	miRNA	getma.org/?cm=var&var=hg19,14,31778302,A,C&fts=all						C	medium	-/72		getma.org/?cm=msa&ty=f&p=HTR5A_HUMAN&rb=1401&re=1600&var=L1504V					YES	HEATR5A,missense_variant,p.Leu1510Val,ENST00000543095,NM_015473.3;HEATR5A,missense_variant,p.Leu1504Val,ENST00000389961,;HEATR5A,missense_variant,p.Leu1504Val,ENST00000439348,;HEATR5A,missense_variant,p.Leu1217Val,ENST00000439727,;HEATR5A,missense_variant,p.Leu1138Val,ENST00000538864,;AL136418.1,upstream_gene_variant,,ENST00000582500,;							MODIFIER		L1504V				Transcript			.						1	
CACNA1E	0	LGGM	GRCh37	1	181740500	181740500	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	29	44	.	.	ENST00000367573.2:c.4953G>A	p.Gly1651=	p.G1651=	ENST00000367573	NM_001205293.1	1651	ggG/ggA	0	1	1	UPI00004588C2	0		ENST00000367573		ENSG00000198216	1392		73			HGNC	p.G1651G		CACNA1E		SNV							ENST00000367570	protein_coding			Pfam_domain:PF00520,Prints_domain:PR00167,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324		G		A		4953/7067				Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,synonymous_variant,p.=,ENST00000526775,NM_001205294.1;CACNA1E,synonymous_variant,p.=,ENST00000357570,;CACNA1E,synonymous_variant,p.=,ENST00000367570,NM_000721.3;CACNA1E,synonymous_variant,p.=,ENST00000367567,;CACNA1E,synonymous_variant,p.=,ENST00000358338,;CACNA1E,synonymous_variant,p.=,ENST00000367573,NM_001205293.1;CACNA1E,synonymous_variant,p.=,ENST00000360108,;RNA5SP70,upstream_gene_variant,,ENST00000517168,;							LOW	4953/6942		CAC1E_HUMAN			Transcript			.	ENSP00000356545		CCDS55664.1			1	
PCDH9	0	LGGM	GRCh37	13	67800110	67800110	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	14	44	.	.	ENST00000544246.1:c.2463C>T	p.Ala821=	p.A821=	ENST00000544246	NM_203487.2	821	gcC/gcT	0	1		UPI00001FCE90	0		ENST00000377865		ENSG00000184226	8661		58			HGNC	p.A821A		PCDH9		SNV							ENST00000377861	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Pfam_domain:PF08374		A		A		2598/5667								PCDH9,synonymous_variant,p.=,ENST00000544246,NM_203487.2;PCDH9,synonymous_variant,p.=,ENST00000456367,NM_020403.4;PCDH9,synonymous_variant,p.=,ENST00000377865,;PCDH9,synonymous_variant,p.=,ENST00000377861,;PCDH9,synonymous_variant,p.=,ENST00000328454,;							LOW	2463/3714		PCDH9_HUMAN			Transcript			.	ENSP00000367096		CCDS9444.1			1	
SELK	0	LGGM	GRCh37	3	53922432	53922432	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060670	H060670N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	49	46	.	.	ENST00000495461.1:c.98T>C	p.Phe33Ser	p.F33S	ENST00000495461		33	tTt/tCt	0	1	1	UPI0000163E13	0		ENST00000495461		ENSG00000113811			95			Uniprot_gn	p.F33S		SELK		SNV							ENST00000488746	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF10961,hmmpanther:PTHR16875:SF0,hmmpanther:PTHR16875		F/S		G		298/1633			deleterious(0)	A8K0M9_HUMAN			YES	SELK,missense_variant,p.Phe33Ser,ENST00000495461,;SELK,missense_variant,p.Phe33Ser,ENST00000541726,NM_021237.3;SELK,non_coding_transcript_exon_variant,,ENST00000485414,;SELK,missense_variant,p.Phe33Ser,ENST00000488746,;SELK,non_coding_transcript_exon_variant,,ENST00000487571,;							MODERATE	98/285		SELK_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000418813		CCDS54597.1			1	
AL355390.1	0	LGGM	GRCh37	13	74988973	74988973	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	18	47	.	.	ENST00000325811.1:c.144C>T	p.Tyr48=	p.Y48=	ENST00000325811		48	taC/taT	0	1	1	UPI0000141765	0		ENST00000325811		ENSG00000177596			65			Clone_based_ensembl_gene	p.Y48Y		AL355390.1		SNV							ENST00000325811	protein_coding					Y		A		449/2328				E7EXB8_HUMAN			YES	AL355390.1,synonymous_variant,p.=,ENST00000325811,;LINC00381,upstream_gene_variant,,ENST00000423629,;							LOW	144/435					Transcript			.	ENSP00000316959					1	
NPAP1	0	LGGM	GRCh37	15	24922527	24922527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	53	48	.	.	ENST00000329468.2:c.1513C>A	p.Pro505Thr	p.P505T	ENST00000329468	NM_018958.2	505	Ccc/Acc	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		101	1.04		HGNC	p.P505T		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24922527,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		P/T		A	low	1987/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=P505T	tolerated(0.58)				YES	NPAP1,missense_variant,p.Pro505Thr,ENST00000329468,NM_018958.2;							MODERATE	1513/3471	P505T	NPAP1_HUMAN			Transcript		benign(0.003)	.	ENSP00000333735		CCDS10015.1			1	
SUCO	0	LGGM	GRCh37	1	172579027	172579027	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	36	49	.	.	ENST00000263688.3:c.3393C>A	p.Ala1131=	p.A1131=	ENST00000263688	NM_014283.3	1131	gcC/gcA	0	1	1	UPI0000070BAC	0		ENST00000263688		ENSG00000094975	1240		85			HGNC	p.A1131A		SUCO		SNV							ENST00000263688	protein_coding			hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0		A		A		3612/5556							YES	SUCO,synonymous_variant,p.=,ENST00000367723,NM_016227.2;SUCO,synonymous_variant,p.=,ENST00000608151,;SUCO,synonymous_variant,p.=,ENST00000263688,NM_014283.3;SUCO,synonymous_variant,p.=,ENST00000610051,NM_001282750.1;RNU6-693P,downstream_gene_variant,,ENST00000516134,;SUCO,non_coding_transcript_exon_variant,,ENST00000609685,;							LOW	3393/3765		SUCO_HUMAN			Transcript			.	ENSP00000263688		CCDS1303.1			1	
SEZ6L2	0	LGGM	GRCh37	16	29906629	29906629	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060670	H060670N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	20	50	.	.	ENST00000308713.5:c.804C>G	p.Phe268Leu	p.F268L	ENST00000308713	NM_001114099.2	268	ttC/ttG	0	1	1	UPI0000366B1B	0	NA	ENST00000308713		ENSG00000174938	30844		70	1.965		HGNC	p.F268L		SEZ6L2		SNV							ENST00000308713	protein_coding	getma.org/?cm=var&var=hg19,16,29906629,G,C&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		F/L		C	medium	1332/3801		getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=173&re=283&var=F268L	deleterious(0.05)	B3KNF3_HUMAN			YES	SEZ6L2,missense_variant,p.Phe268Leu,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Phe198Leu,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Phe224Leu,ENST00000537485,NM_001243333.1;SEZ6L2,intron_variant,,ENST00000346932,NM_001114100.2;SEZ6L2,downstream_gene_variant,,ENST00000568380,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;							MODERATE	804/2733	F268L	SE6L2_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000312550		CCDS10659.1			1	
MYOM1	0	LGGM	GRCh37	18	3187482	3187482	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	71	56	.	.	ENST00000356443.4:c.925A>T	p.Thr309Ser	p.T309S	ENST00000356443	NM_019856.1	309	Acg/Tcg	0	1	1	UPI000022A657	0	getma.org/pdb.php?prot=MYOM1_HUMAN&from=277&to=369&var=T309S	ENST00000356443		ENSG00000101605	7613		127	1.83		HGNC	p.T309S		MYOM1		SNV							ENST00000356443	protein_coding	getma.org/?cm=var&var=hg19,18,3187482,T,A&fts=all		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		T/S		A	low	1259/5847		getma.org/?cm=msa&ty=f&p=MYOM1_HUMAN&rb=277&re=369&var=T309S	deleterious(0.01)				YES	MYOM1,missense_variant,p.Thr309Ser,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,missense_variant,p.Thr309Ser,ENST00000400569,;MYOM1,missense_variant,p.Thr309Ser,ENST00000261606,;RP13-270P17.2,upstream_gene_variant,,ENST00000580139,;							MODERATE	925/5058	T309S	MYOM1_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000348821		CCDS45824.1			1	
TTN	0	LGGM	GRCh37	2	179462705	179462705	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060670	H060670N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	102	63	.	.	ENST00000589042.1:c.57192A>C	p.Arg19064Ser	p.R19064S	ENST00000589042	NM_001267550.1	19064	agA/agC	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=17349&to=17434&var=R17423S	ENST00000591111		ENSG00000155657	12403		165	0.585		HGNC	p.R10124S		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179462705,T,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/S		G	neutral	52494/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=17349&re=17434&var=R17423S		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg19064Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg17423Ser,ENST00000591111,;TTN,missense_variant,p.Arg16496Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg10191Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg10124Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg9999Ser,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,;							MODERATE	52269/103053	R17423S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PRSS12	0	LGGM	GRCh37	4	119203985	119203985	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H060670	H060670N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060670N.bam, H060670T.bam	Illumina HiSeq	54	81	.	.	ENST00000296498.3:c.2320+1G>C		p.X774_splice	ENST00000296498	NM_003619.3			0	1	1	UPI000013E34B	0		ENST00000296498		ENSG00000164099	9477		135			HGNC	-		PRSS12		SNV			1				ENST00000296498	protein_coding							G		-/4809							YES	PRSS12,splice_donor_variant,,ENST00000296498,NM_003619.3;SNHG8,downstream_gene_variant,,ENST00000602414,;SNHG8,downstream_gene_variant,,ENST00000602573,;SNHG8,downstream_gene_variant,,ENST00000602819,;SNHG8,downstream_gene_variant,,ENST00000602520,;SNHG8,downstream_gene_variant,,ENST00000602483,;SNHG8,downstream_gene_variant,,ENST00000384096,NR_002963.1;PRSS12,downstream_gene_variant,,ENST00000510903,;							HIGH	2320/2628		NETR_HUMAN			Transcript			.	ENSP00000296498		CCDS3709.1			1	
NUMB	0	LGGM	GRCh37	14	73743297	73743297	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	12	2	.	.	ENST00000355058.3:c.1945A>G	p.Ile649Val	p.I649V	ENST00000355058		649	Att/Gtt	0	1	1	UPI00001309BF	0	NA	ENST00000355058		ENSG00000133961	8060		14	0.805		HGNC	p.I601V		NUMB		SNV							ENST00000356296	protein_coding	getma.org/?cm=var&var=hg19,14,73743297,T,C&fts=all		hmmpanther:PTHR11232:SF33,hmmpanther:PTHR11232,PIRSF_domain:PIRSF017607		I/V		C	low	2224/3593		getma.org/?cm=msa&ty=f&p=NUMB_HUMAN&rb=540&re=651&var=I649V	deleterious(0)	Q5D0E5_HUMAN,G3V4S6_HUMAN,G3V3Z8_HUMAN,G3V3R1_HUMAN			YES	NUMB,missense_variant,p.Ile505Val,ENST00000556772,;NUMB,missense_variant,p.Ile590Val,ENST00000554546,NM_001005745.1;NUMB,missense_variant,p.Ile649Val,ENST00000355058,;NUMB,missense_variant,p.Ile649Val,ENST00000555238,NM_001005743.1;NUMB,missense_variant,p.Ile638Val,ENST00000359560,;NUMB,missense_variant,p.Ile638Val,ENST00000557597,NM_003744.5;NUMB,missense_variant,p.Ile601Val,ENST00000356296,;NUMB,missense_variant,p.Ile601Val,ENST00000555394,NM_001005744.1;NUMB,missense_variant,p.Ile638Val,ENST00000535282,;NUMB,missense_variant,p.Ile503Val,ENST00000560335,;NUMB,missense_variant,p.Ile503Val,ENST00000454166,;NUMB,missense_variant,p.Ile492Val,ENST00000555738,;NUMB,missense_variant,p.Ile454Val,ENST00000559312,;NUMB,missense_variant,p.Ile454Val,ENST00000544991,;NUMB,missense_variant,p.Ile443Val,ENST00000554521,;PAPLN,downstream_gene_variant,,ENST00000427855,;PAPLN,downstream_gene_variant,,ENST00000340738,NM_173462.3;PAPLN,downstream_gene_variant,,ENST00000381166,;PAPLN,downstream_gene_variant,,ENST00000555445,;PAPLN,downstream_gene_variant,,ENST00000554301,;PAPLN,downstream_gene_variant,,ENST00000559759,;RP4-647C14.3,upstream_gene_variant,,ENST00000556578,;NUMB,downstream_gene_variant,,ENST00000553997,;PAPLN,downstream_gene_variant,,ENST00000555700,;PAPLN,downstream_gene_variant,,ENST00000216658,;PAPLN,downstream_gene_variant,,ENST00000555123,;PAPLN,downstream_gene_variant,,ENST00000557061,;NUMB,downstream_gene_variant,,ENST00000554014,;PAPLN,downstream_gene_variant,,ENST00000554527,;							MODERATE	1945/1956	I649V	NUMB_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000347169		CCDS32116.1			1	
DOCK6	0	LGGM	GRCh37	19	11344038	11344038	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	6	2	.	.	ENST00000294618.7:c.2559C>T	p.Ala853=	p.A853=	ENST00000294618	NM_020812.3	853	gcC/gcT	0	1	1	UPI000059D66F	0		ENST00000294618		ENSG00000130158	19189	8.70E-05	8			HGNC	p.A853A	rs762744667	DOCK6		SNV			1				ENST00000294618	protein_coding			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65		A		A		2571/6358	1.52E-05						YES	DOCK6,synonymous_variant,p.=,ENST00000294618,NM_020812.3;DOCK6,synonymous_variant,p.=,ENST00000319867,;DOCK6,synonymous_variant,p.=,ENST00000587656,;DOCK6,synonymous_variant,p.=,ENST00000590680,;DOCK6,synonymous_variant,p.=,ENST00000585904,;C19orf80,upstream_gene_variant,,ENST00000591200,;RN7SL298P,downstream_gene_variant,,ENST00000581369,;DOCK6,downstream_gene_variant,,ENST00000591750,;DOCK6,upstream_gene_variant,,ENST00000590452,;							LOW	2559/6144		DOCK6_HUMAN			Transcript			.	ENSP00000294618	1.65E-05	CCDS45975.1			1	
ARHGEF7	0	LGGM	GRCh37	13	111932646	111932646	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	7	3	.	.	ENST00000375741.2:c.1597A>C	p.Ile533Leu	p.I533L	ENST00000375741	NM_145735.2	533	Atc/Ctc	0	1	1	UPI00002132CC	0	getma.org/pdb.php?prot=ARHG7_HUMAN&from=478&to=578&var=I533L	ENST00000375741		ENSG00000102606	15607		10	-0.175		HGNC	p.I355L		ARHGEF7		SNV							ENST00000426073	protein_coding	getma.org/?cm=var&var=hg19,13,111932646,A,C&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826,PROSITE_profiles:PS50003		I/L		C	neutral	1847/5525		getma.org/?cm=msa&ty=f&p=ARHG7_HUMAN&rb=478&re=578&var=I533L	tolerated(0.11)	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN			YES	ARHGEF7,missense_variant,p.Ile533Leu,ENST00000375741,NM_145735.2,NM_001113511.1;ARHGEF7,missense_variant,p.Ile483Leu,ENST00000375739,NM_001113512.1;ARHGEF7,missense_variant,p.Ile355Leu,ENST00000218789,;ARHGEF7,missense_variant,p.Ile355Leu,ENST00000375736,NM_003899.3;ARHGEF7,missense_variant,p.Ile355Leu,ENST00000375723,;ARHGEF7,missense_variant,p.Ile355Leu,ENST00000426073,NM_001113513.1;ARHGEF7,missense_variant,p.Ile440Leu,ENST00000370623,;ARHGEF7,missense_variant,p.Ile512Leu,ENST00000317133,;ARHGEF7,missense_variant,p.Ile430Leu,ENST00000375737,;ARHGEF7,missense_variant,p.Ile277Leu,ENST00000478679,;ARHGEF7,missense_variant,p.Ile355Leu,ENST00000466143,;ARHGEF7,intron_variant,,ENST00000544132,;ARHGEF7,downstream_gene_variant,,ENST00000483189,;ARHGEF7,upstream_gene_variant,,ENST00000491688,;ARHGEF7,intron_variant,,ENST00000469877,;							MODERATE	1597/2412	I533L	ARHG7_HUMAN			Transcript		benign(0.038)	.	ENSP00000364893		CCDS45068.1			1	
GLIS3	0	LGGM	GRCh37	9	3856144	3856144	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	18	3	.	.	ENST00000381971.3:c.2338C>A	p.Arg780=	p.R780=	ENST00000381971	NM_001042413.1	780	Cgg/Agg	0	1		UPI00003675FE	0		ENST00000324333		ENSG00000107249	28510		21			HGNC	p.R780R		GLIS3		SNV			1				ENST00000381971	protein_coding			hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818		R		T		2067/6667				Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,synonymous_variant,p.=,ENST00000324333,NM_152629.3;GLIS3,synonymous_variant,p.=,ENST00000381971,NM_001042413.1;GLIS3,non_coding_transcript_exon_variant,,ENST00000461870,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;							LOW	1873/2328		GLIS3_HUMAN			Transcript			.	ENSP00000325494		CCDS6451.1			1	
NBPF14	0	LGGM	GRCh37	1	148011038	148011038	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	11	3	.	.	ENST00000310701.10:c.1601G>T	p.Leu534=	p.L534=	ENST00000310701		534	ctG/ctT	0	1	1	UPI000059D042	0		ENST00000310701		ENSG00000122497	25232		14			HGNC	p.L528L		NBPF14		SNV							ENST00000369219	protein_coding			Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		L		A		1601/3689				S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN			YES	NBPF14,synonymous_variant,p.=,ENST00000310701,;NBPF14,synonymous_variant,p.=,ENST00000369219,;NBPF14,intron_variant,,ENST00000392972,;NBPF14,intron_variant,,ENST00000448574,;NBPF14,intron_variant,,ENST00000458135,;NBPF14,intron_variant,,ENST00000431121,;NBPF14,intron_variant,,ENST00000436356,;NBPF14,intron_variant,,ENST00000444640,;NBPF14,downstream_gene_variant,,ENST00000426874,;							LOW	1602/2784					Transcript			.	ENSP00000309907					1	
GPR116	0	LGGM	GRCh37	6	46851401	46851401	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	14	3	.	.	ENST00000283296.7:c.507T>A	p.Asp169Glu	p.D169E	ENST00000283296	NM_001098518.1	169	gaT/gaA	0	1		UPI000007075A	0	NA	ENST00000265417		ENSG00000069122	19030		17	1.79		HGNC	p.D169E		GPR116		SNV							ENST00000265417	protein_coding	getma.org/?cm=var&var=hg19,6,46851401,A,T&fts=all		Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272		D/E		T	low	741/5668		getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=166&re=266&var=D169E	tolerated(1)					GPR116,missense_variant,p.Asp169Glu,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Asp169Glu,ENST00000362015,;GPR116,missense_variant,p.Asp169Glu,ENST00000265417,NM_015234.4;GPR116,missense_variant,p.Asp169Glu,ENST00000456426,;GPR116,downstream_gene_variant,,ENST00000478711,;							MODERATE	507/4041	D169E	GP116_HUMAN			Transcript		benign(0.022)	.	ENSP00000265417		CCDS4919.1			1	
SYT10	0	LGGM	GRCh37	12	33579335	33579335	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	40	3	.	.	ENST00000228567.3:c.247T>A	p.Cys83Ser	p.C83S	ENST00000228567	NM_198992.3	83	Tgc/Agc	0	1	1	UPI0000052B30	0	NA	ENST00000228567		ENSG00000110975	19266		43	-0.205		HGNC	p.C83S		SYT10		SNV							ENST00000539102	protein_coding	getma.org/?cm=var&var=hg19,12,33579335,A,T&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46		C/S		T	neutral	544/4461		getma.org/?cm=msa&ty=f&p=SYT10_HUMAN&rb=1&re=200&var=C83S	tolerated(0.11)	F5H2A8_HUMAN			YES	SYT10,missense_variant,p.Cys83Ser,ENST00000228567,NM_198992.3;SYT10,5_prime_UTR_variant,,ENST00000535526,;SYT10,upstream_gene_variant,,ENST00000567656,;SYT10,missense_variant,p.Cys83Ser,ENST00000539102,;							MODERATE	247/1572	C83S	SYT10_HUMAN			Transcript		benign(0)	.	ENSP00000228567		CCDS8732.1			1	
PAH	0	LGGM	GRCh37	12	103245530	103245530	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	35	3	.	.	ENST00000553106.1:c.847A>G	p.Ile283Val	p.I283V	ENST00000553106	NM_000277.1	283	Atc/Gtc	0	1	1	UPI00001318A0	0	getma.org/pdb.php?prot=PH4H_HUMAN&from=119&to=450&var=I283V	ENST00000553106		ENSG00000171759	8582		38	-0.315		HGNC	p.I283V		PAH		SNV			1				ENST00000553106	protein_coding	getma.org/?cm=var&var=hg19,12,103245530,T,C&fts=all		Superfamily_domains:SSF56534,PIRSF_domain:PIRSF000336,Pfam_domain:PF00351,TIGRFAM_domain:TIGR01268,Gene3D:1.10.800.10,PROSITE_patterns:PS00367,hmmpanther:PTHR11473,PROSITE_profiles:PS51410		I/V		C	neutral	1320/4122		getma.org/?cm=msa&ty=f&p=PH4H_HUMAN&rb=119&re=450&var=I283V	tolerated(0.59)	F8W1D4_HUMAN,F8W0A0_HUMAN			YES	PAH,missense_variant,p.Ile283Val,ENST00000553106,NM_000277.1;PAH,missense_variant,p.Ile278Val,ENST00000307000,;PAH,downstream_gene_variant,,ENST00000551988,;PAH,non_coding_transcript_exon_variant,,ENST00000549247,;PAH,non_coding_transcript_exon_variant,,ENST00000551114,;PAH,downstream_gene_variant,,ENST00000549111,;							MODERATE	847/1359	I283V	PH4H_HUMAN			Transcript		benign(0.005)	.	ENSP00000448059		CCDS9092.1			1	
PAN2	0	LGGM	GRCh37	12	56726735	56726735	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	42	3	.	.	ENST00000425394.2:c.144T>G	p.Ala48=	p.A48=	ENST00000425394	NM_001127460.2	48	gcT/gcG	0	1	1	UPI0000577D0A	0		ENST00000425394		ENSG00000135473	20074		45			HGNC	p.A48A		PAN2		SNV							ENST00000425394	protein_coding			hmmpanther:PTHR15728,hmmpanther:PTHR15728:SF0		A		C		521/5372				F8VXK8_HUMAN			YES	PAN2,synonymous_variant,p.=,ENST00000425394,NM_001127460.2;PAN2,synonymous_variant,p.=,ENST00000548043,;PAN2,synonymous_variant,p.=,ENST00000440411,NM_001166279.1,NM_014871.4;PAN2,synonymous_variant,p.=,ENST00000257931,;PAN2,intron_variant,,ENST00000547572,;PAN2,non_coding_transcript_exon_variant,,ENST00000551359,;PAN2,non_coding_transcript_exon_variant,,ENST00000547994,;PAN2,non_coding_transcript_exon_variant,,ENST00000549964,;PAN2,upstream_gene_variant,,ENST00000547518,;							LOW	144/3609		PAN2_HUMAN			Transcript			.	ENSP00000401721		CCDS44922.1			1	
LAMA2	0	LGGM	GRCh37	6	129618943	129618943	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	9	3	.	.	ENST00000421865.2:c.2970A>G	p.Gly990=	p.G990=	ENST00000421865	NM_001079823.1	990	ggA/ggG	0	1	1	UPI00003673E0	0		ENST00000421865		ENSG00000196569	6482		12			HGNC	p.G990G		LAMA2		SNV			1				ENST00000421865	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00180,Superfamily_domains:SSF57196		G		G		3019/9640				Q59H37_HUMAN			YES	LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;							LOW	2970/9369		LAMA2_HUMAN			Transcript			.	ENSP00000400365		CCDS5138.1			1	
PARP10	0	LGGM	GRCh37	8	145049359	145049359	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	38	3	.	.				ENST00000313028	NM_032789.3			0	1	1	UPI0000251FAB	0	NA	ENST00000313028		ENSG00000178685	25895		41	1.795	1969	HGNC	p.V60A		PARP10		SNV							ENST00000527096	protein_coding	getma.org/?cm=var&var=hg19,8,145049359,A,G&fts=all						G	low	-/3497		getma.org/?cm=msa&ty=f&p=E9PMV1_HUMAN&rb=1&re=71&var=V60A		E9PSG8_HUMAN,E9PSE7_HUMAN,E9PQQ6_HUMAN,E9PPV8_HUMAN,E9PPU2_HUMAN,E9PM86_HUMAN,E9PLE8_HUMAN,E9PJI2_HUMAN,E9PIA6_HUMAN			YES	PLEC,missense_variant,p.Val60Ala,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Val60Ala,ENST00000527096,;PLEC,missense_variant,p.Val60Ala,ENST00000528025,;PLEC,upstream_gene_variant,,ENST00000356346,NM_201378.2;PARP10,downstream_gene_variant,,ENST00000313028,NM_032789.3;PARP10,downstream_gene_variant,,ENST00000524918,;PARP10,downstream_gene_variant,,ENST00000525773,;PLEC,non_coding_transcript_exon_variant,,ENST00000532346,;PARP10,downstream_gene_variant,,ENST00000527262,;PARP10,downstream_gene_variant,,ENST00000526007,;							MODIFIER	-/3078	V60A	PAR10_HUMAN			Transcript			.	ENSP00000325618		CCDS34960.1			1	
TMEM43	0	LGGM	GRCh37	3	14171004	14171004	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	18	4	.	.	ENST00000306077.4:c.105G>T	p.Gly35=	p.G35=	ENST00000306077	NM_024334.2	35	ggG/ggT	0	1	1	UPI0000048F42	0		ENST00000306077		ENSG00000170876	28472		22			HGNC	p.G35G		TMEM43		SNV			1				ENST00000306077	protein_coding			hmmpanther:PTHR13416:SF0,hmmpanther:PTHR13416,Transmembrane_helices:TMhelix		G		T		359/3341							YES	TMEM43,synonymous_variant,p.=,ENST00000306077,NM_024334.2;CHCHD4,upstream_gene_variant,,ENST00000295767,NM_144636.2;CHCHD4,upstream_gene_variant,,ENST00000396914,NM_001098502.1;TMEM43,3_prime_UTR_variant,,ENST00000432444,;CHCHD4,upstream_gene_variant,,ENST00000420103,;							LOW	105/1203		TMM43_HUMAN			Transcript			.	ENSP00000303992		CCDS2618.1			1	
SH3PXD2B	0	LGGM	GRCh37	5	171777392	171777392	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	15	4	.	.	ENST00000311601.5:c.987G>A	p.Pro329=	p.P329=	ENST00000311601	NM_001017995.2	329	ccG/ccA	0	1	1	UPI000020C12E	0		ENST00000311601		ENSG00000174705	29242		19			HGNC	p.P329P	rs372347030	SH3PXD2B		SNV	T:0.0002		1	0.000101			ENST00000519643	protein_coding			hmmpanther:PTHR15706:SF8,hmmpanther:PTHR15706		P	T:0	T		1158/7777	1.52E-05						YES	SH3PXD2B,synonymous_variant,p.=,ENST00000311601,NM_001017995.2;SH3PXD2B,synonymous_variant,p.=,ENST00000519643,;SH3PXD2B,upstream_gene_variant,,ENST00000518522,;							LOW	987/2736		SPD2B_HUMAN			Transcript			.	ENSP00000309714	1.65E-05	CCDS34291.1			1	
KRT10	0	LGGM	GRCh37	17	38978698	38978698	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	38	4	.	.	ENST00000269576.5:c.140T>G	p.Phe47Cys	p.F47C	ENST00000269576	NM_000421.3	47	tTt/tGt	0	1	1	UPI000013D842	0	NA	ENST00000269576		ENSG00000186395	6413		42	0		HGNC	p.F47C		KRT10		SNV			1				ENST00000269576	protein_coding	getma.org/?cm=var&var=hg19,17,38978698,A,C&fts=all		Low_complexity_(Seg):seg		F/C		C	neutral	150/2124		getma.org/?cm=msa&ty=f&p=K1C10_HUMAN&rb=16&re=54&var=F47C	tolerated_low_confidence(0.05)				YES	KRT10,missense_variant,p.Phe47Cys,ENST00000269576,NM_000421.3;TMEM99,intron_variant,,ENST00000301665,NM_145274.3,NM_001195387.1,NM_001195386.1;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000496847,;							MODERATE	140/1755	F47C	K1C10_HUMAN			Transcript		unknown(0)	.	ENSP00000269576		CCDS11377.1			1	
CCNC	0	LGGM	GRCh37	6	99993094	99993094	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	34	4	.	.	ENST00000520429.1:c.691A>G	p.Ile231Val	p.I231V	ENST00000520429	NM_005190.3	231	Atc/Gtc	0	1	1	UPI0000169CFB	0	getma.org/pdb.php?prot=CCNC_HUMAN&from=152&to=283&var=I231V	ENST00000520429		ENSG00000112237	1581		38	-0.55		HGNC	p.I231V		CCNC		SNV							ENST00000520371	protein_coding	getma.org/?cm=var&var=hg19,6,99993094,T,C&fts=all		hmmpanther:PTHR10026,SMART_domains:SM00385,PIRSF_domain:PIRSF028758,Superfamily_domains:SSF47954		I/V		C	neutral	1137/2473		getma.org/?cm=msa&ty=f&p=CCNC_HUMAN&rb=152&re=283&var=I231V	tolerated(0.78)	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN			YES	CCNC,missense_variant,p.Ile231Val,ENST00000520429,NM_005190.3,NM_001013399.1;CCNC,missense_variant,p.Ile231Val,ENST00000520371,;CCNC,missense_variant,p.Ile230Val,ENST00000369220,;CCNC,missense_variant,p.Ile231Val,ENST00000518714,;CCNC,missense_variant,p.Ile146Val,ENST00000523799,;CCNC,missense_variant,p.Ile146Val,ENST00000523985,;CCNC,missense_variant,p.Ile177Val,ENST00000486428,;CCNC,missense_variant,p.Ile146Val,ENST00000524049,;CCNC,3_prime_UTR_variant,,ENST00000326298,;CCNC,3_prime_UTR_variant,,ENST00000484049,;CCNC,3_prime_UTR_variant,,ENST00000523961,;CCNC,non_coding_transcript_exon_variant,,ENST00000519617,;							MODERATE	691/852	I231V	CCNC_HUMAN			Transcript		benign(0.001)	.	ENSP00000428982		CCDS34502.1			1	
MYO10	0	LGGM	GRCh37	5	16877809	16877809	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	44	4	.	.	ENST00000513610.1:c.29G>A	p.Arg10Gln	p.R10Q	ENST00000513610	NM_012334.2	10	cGg/cAg	0	1	1	UPI0001597062	0	getma.org/pdb.php?prot=MYO10_HUMAN&from=1&to=727&var=R10Q	ENST00000513610		ENSG00000145555	7593		48	1.38		HGNC	p.R10Q	rs776689049	MYO10		SNV							ENST00000513610	protein_coding	getma.org/?cm=var&var=hg19,5,16877809,C,T&fts=all		hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140		R/Q		T	low	484/8038		getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=1&re=727&var=R10Q	tolerated(0.12)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Arg10Gln,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Arg21Gln,ENST00000513882,;MYO10,missense_variant,p.Arg10Gln,ENST00000507288,;MYO10,intron_variant,,ENST00000502436,;	0.000127						MODERATE	29/6177	R10Q	MYO10_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000421280	8.27E-06	CCDS54834.1			1	
CDC42BPB	0	LGGM	GRCh37	14	103440472	103440472	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	23	4	.	.	ENST00000361246.2:c.1522G>T	p.Glu508Ter	p.E508*	ENST00000361246	NM_006035.3	508	Gag/Tag	0	1	1	UPI000013D27E	0	NA	ENST00000361246		ENSG00000198752	1738		27	0		HGNC	p.E508X		CDC42BPB		SNV							ENST00000361246	protein_coding	getma.org/?cm=var&var=hg19,14,103440472,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30		E/*		A	NA	1811/6758		NA					YES	CDC42BPB,stop_gained,p.Glu508Ter,ENST00000361246,NM_006035.3;							HIGH	1522/5136	E508*	MRCKB_HUMAN			Transcript			.	ENSP00000355237		CCDS9978.1			1	
KIF26B	0	LGGM	GRCh37	1	245850075	245850075	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	22	4	.	.	ENST00000407071.2:c.3790C>T	p.Leu1264=	p.L1264=	ENST00000407071	NM_018012.3	1264	Ctg/Ttg	0	1	1	UPI0000695D71	0		ENST00000407071		ENSG00000162849	25484		26			HGNC	p.L1264L		KIF26B		SNV							ENST00000407071	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363		L		T		4230/7287				B4DF75_HUMAN			YES	KIF26B,synonymous_variant,p.=,ENST00000366518,;KIF26B,synonymous_variant,p.=,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;							LOW	3790/6327		KI26B_HUMAN			Transcript			.	ENSP00000385545		CCDS44342.1			1	
TMEM132D	0	LGGM	GRCh37	12	129694167	129694167	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	29	4	.	.	ENST00000422113.2:c.1341G>A	p.Thr447=	p.T447=	ENST00000422113	NM_133448.2	447	acG/acA	0	1	1	UPI000023759C	0		ENST00000422113		ENSG00000151952	29411		33			HGNC	p.T447T	rs748436239	TMEM132D		SNV							ENST00000422113	protein_coding			hmmpanther:PTHR13388		T		T		1668/5776	4.50E-05						YES	TMEM132D,synonymous_variant,p.=,ENST00000422113,NM_133448.2;RP11-669N7.3,non_coding_transcript_exon_variant,,ENST00000542578,;							LOW	1341/3300		T132D_HUMAN			Transcript			.	ENSP00000408581	2.47E-05	CCDS9266.1			1	
NFE2L1	0	LGGM	GRCh37	17	46128604	46128604	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	41	5	.	.	ENST00000362042.3:c.124A>T	p.Ile42Phe	p.I42F	ENST00000362042	NM_003204.2	42	Atc/Ttc	0	1	1	UPI000012FFCF	0	NA	ENST00000362042		ENSG00000082641	7781		46	2.175		HGNC	p.I42F		NFE2L1		SNV							ENST00000361665	protein_coding	getma.org/?cm=var&var=hg19,17,46128604,A,T&fts=all		hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411		I/F		T	medium	740/4774		getma.org/?cm=msa&ty=f&p=NF2L1_HUMAN&rb=1&re=200&var=I42F	deleterious(0.05)	Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN			YES	NFE2L1,missense_variant,p.Ile42Phe,ENST00000362042,NM_003204.2;NFE2L1,missense_variant,p.Ile42Phe,ENST00000361665,;NFE2L1,missense_variant,p.Ile42Phe,ENST00000357480,;NFE2L1,missense_variant,p.Ile42Phe,ENST00000585291,;NFE2L1,missense_variant,p.Ile42Phe,ENST00000585062,;NFE2L1,missense_variant,p.Ile42Phe,ENST00000584137,;NFE2L1,upstream_gene_variant,,ENST00000536222,;NFE2L1,upstream_gene_variant,,ENST00000583378,;NFE2L1,upstream_gene_variant,,ENST00000582155,;NFE2L1,upstream_gene_variant,,ENST00000584634,;NFE2L1,upstream_gene_variant,,ENST00000580037,;NFE2L1,upstream_gene_variant,,ENST00000577431,;NFE2L1,downstream_gene_variant,,ENST00000579889,;NFE2L1,upstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000581441,;NFE2L1,upstream_gene_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000580050,;NFE2L1,upstream_gene_variant,,ENST00000579537,;RP5-890E16.2,upstream_gene_variant,,ENST00000584428,;NFE2L1,downstream_gene_variant,,ENST00000579481,;NFE2L1,downstream_gene_variant,,ENST00000582574,;NFE2L1,downstream_gene_variant,,ENST00000585299,;NFE2L1,downstream_gene_variant,,ENST00000583060,;RP5-890E16.2,upstream_gene_variant,,ENST00000578660,;							MODERATE	124/2319	I42F	NF2L1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000354855		CCDS11524.1			1	
XIRP2	0	LGGM	GRCh37	2	168104242	168104242	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	32	5	.	.	ENST00000409195.1:c.6340A>T	p.Ile2114Phe	p.I2114F	ENST00000409195	NM_152381.5	2114	Atc/Ttc	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		37	0.69		HGNC	p.I1892F		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168104242,A,T&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		I/F		T	neutral	6429/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=I1939F		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Ile2114Phe,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ile2114Phe,ENST00000295237,;XIRP2,missense_variant,p.Ile1892Phe,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;							MODERATE	6340/10650	I1939F				Transcript		benign(0.001)	.	ENSP00000386840		CCDS42769.1			1	
SLC9A9	0	LGGM	GRCh37	3	143297432	143297432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	20	5	.	.	ENST00000316549.6:c.889G>T	p.Ala297Ser	p.A297S	ENST00000316549	NM_173653.3	297	Gca/Tca	0	1	1	UPI0000074664	0	NA	ENST00000316549		ENSG00000181804	20653		25	1.35		HGNC	p.A297S		SLC9A9		SNV			1				ENST00000316549	protein_coding	getma.org/?cm=var&var=hg19,3,143297432,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF61,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999		A/S		A	low	1098/3627		getma.org/?cm=msa&ty=f&p=SL9A9_HUMAN&rb=29&re=486&var=A297S	deleterious(0.03)				YES	SLC9A9,missense_variant,p.Ala297Ser,ENST00000316549,NM_173653.3;SLC9A9,non_coding_transcript_exon_variant,,ENST00000483124,;							MODERATE	889/1938	A297S	SL9A9_HUMAN			Transcript		benign(0.033)	.	ENSP00000320246		CCDS33872.1			1	
ACTN2	0	LGGM	GRCh37	1	236908062	236908062	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	12	5	.	.	ENST00000366578.4:c.1392C>T	p.Ile464=	p.I464=	ENST00000366578	NM_001278344.1	464	atC/atT	0	1	1	UPI0000125088	0		ENST00000366578		ENSG00000077522	164		17			HGNC	p.I464I	rs764086805,COSM1296043	ACTN2		SNV			1			0,1	ENST00000542672	protein_coding			Superfamily_domains:SSF46966,SMART_domains:SM00150,Pfam_domain:PF00435,Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,Coiled-coils_(Ncoils):Coil		I		T		1558/4863	1.51E-05			B7Z4P8_HUMAN			YES	ACTN2,synonymous_variant,p.=,ENST00000366578,NM_001278344.1,NM_001103.3;ACTN2,synonymous_variant,p.=,ENST00000542672,NM_001278343.1;ACTN2,5_prime_UTR_variant,,ENST00000546208,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;ACTN2,downstream_gene_variant,,ENST00000494762,;ACTN2,upstream_gene_variant,,ENST00000492101,;					0,1		LOW	1392/2685		ACTN2_HUMAN			Transcript			.	ENSP00000355537	8.24E-06	CCDS1613.1			1	
TADA1	0	LGGM	GRCh37	1	166829467	166829467	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	40	5	.	.	ENST00000367874.4:c.648A>G	p.Pro216=	p.P216=	ENST00000367874	NM_053053.3	216	ccA/ccG	0	1	1	UPI00000709B6	0		ENST00000367874		ENSG00000152382	30631		45			HGNC	p.P216P		TADA1		SNV							ENST00000367874	protein_coding			hmmpanther:PTHR21277		P		C		742/2159							YES	TADA1,synonymous_variant,p.=,ENST00000367874,NM_053053.3;POGK,downstream_gene_variant,,ENST00000367876,NM_017542.3;TADA1,non_coding_transcript_exon_variant,,ENST00000467021,;							LOW	648/1008		TADA1_HUMAN			Transcript			.	ENSP00000356848		CCDS1255.1			1	
PREP	0	LGGM	GRCh37	6	105729621	105729621	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	25	6	.	.	ENST00000369110.3:c.1838A>G	p.Lys613Arg	p.K613R	ENST00000369110	NM_002726.4	613	aAa/aGa	0	1	1	UPI000006E28E	0	getma.org/pdb.php?prot=PPCE_HUMAN&from=482&to=707&var=K613R	ENST00000369110		ENSG00000085377	9358		31	1.845		HGNC	p.K613R		PREP		SNV							ENST00000369110	protein_coding	getma.org/?cm=var&var=hg19,6,105729621,T,C&fts=all		hmmpanther:PTHR11757:SF2,hmmpanther:PTHR11757,Pfam_domain:PF00326,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR00862		K/R		C	low	2031/2905		getma.org/?cm=msa&ty=f&p=PPCE_HUMAN&rb=482&re=707&var=K613R	tolerated(0.08)				YES	PREP,missense_variant,p.Lys613Arg,ENST00000369110,NM_002726.4;RP3-355L5.4,non_coding_transcript_exon_variant,,ENST00000452363,;							MODERATE	1838/2133	K613R	PPCE_HUMAN			Transcript		benign(0.029)	.	ENSP00000358106		CCDS5053.1			1	
ARHGEF3	0	LGGM	GRCh37	3	56766387	56766387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	35	6	.	.	ENST00000338458.4:c.1203G>T	p.Gln401His	p.Q401H	ENST00000338458	NM_001128615.1	401	caG/caT	0	1		UPI0000031493	0	getma.org/pdb.php?prot=ARHG3_HUMAN&from=291&to=449&var=Q369H	ENST00000296315		ENSG00000163947	683		41	1.175		HGNC	p.Q340H		ARHGEF3		SNV							ENST00000497267	protein_coding	getma.org/?cm=var&var=hg19,3,56766387,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22825:SF12,hmmpanther:PTHR22825,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		Q/H		A	low	1276/3602		getma.org/?cm=msa&ty=f&p=ARHG3_HUMAN&rb=291&re=449&var=Q369H	tolerated(0.15)					ARHGEF3,missense_variant,p.Gln375His,ENST00000413728,NM_001128616.1;ARHGEF3,missense_variant,p.Gln401His,ENST00000338458,NM_001128615.1;ARHGEF3,missense_variant,p.Gln369His,ENST00000296315,NM_019555.2;ARHGEF3,missense_variant,p.Gln340His,ENST00000497267,;ARHGEF3,missense_variant,p.Gln369His,ENST00000495373,;ARHGEF3,missense_variant,p.Gln375His,ENST00000496106,;ARHGEF3,3_prime_UTR_variant,,ENST00000465659,;							MODERATE	1107/1581	Q369H	ARHG3_HUMAN			Transcript		possibly_damaging(0.49)	.	ENSP00000296315		CCDS2878.1			1	
NALF1	0	LGGM	GRCh37	13	107822967	107822967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	12	6	.	.	ENST00000375915.2:c.1255C>A	p.Leu419Met	p.L419M	ENST00000375915	NM_001080396.2	419	Ctg/Atg	0	1	1	UPI000045882C	0	NA	ENST00000375915		ENSG00000204442	33877		18	1.585		HGNC	p.L419M		FAM155A		SNV							ENST00000375915	protein_coding	getma.org/?cm=var&var=hg19,13,107822967,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2		L/M		T	low	1394/3478		getma.org/?cm=msa&ty=f&p=F155A_HUMAN&rb=1&re=456&var=L419M	deleterious(0)				YES	FAM155A,missense_variant,p.Leu419Met,ENST00000375915,NM_001080396.2;							MODERATE	1255/1377	L419M	F155A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000365080		CCDS32006.1			1	
YWHAG	0	LGGM	GRCh37	7	75958978	75958978	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	14	7	.	.	ENST00000307630.3:c.660G>T	p.Thr220=	p.T220=	ENST00000307630	NM_012479.3	220	acG/acT	0	1	1	UPI000000106B	0		ENST00000307630		ENSG00000170027	12852		21			HGNC	p.T220T		YWHAG		SNV							ENST00000307630	protein_coding			hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF2,PROSITE_patterns:PS00797,Gene3D:3iquA00,Pfam_domain:PF00244,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Superfamily_domains:SSF48445,Prints_domain:PR00305		T		A		883/3745				B4DHC4_HUMAN			YES	YWHAG,synonymous_variant,p.=,ENST00000307630,NM_012479.3;							LOW	660/744		1433G_HUMAN			Transcript			.	ENSP00000306330		CCDS5584.1			1	
LAMA1	0	LGGM	GRCh37	18	6966146	6966146	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	12	7	.	.	ENST00000389658.3:c.7050A>G	p.Thr2350=	p.T2350=	ENST00000389658	NM_005559.3	2350	acA/acG	0	1	1	UPI00001C1FF9	0		ENST00000389658		ENSG00000101680	6481		19			HGNC	p.T2350T		LAMA1		SNV			1				ENST00000389658	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		T		C		7144/9657				Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,splice_region_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,splice_region_variant,,ENST00000579014,;LAMA1,splice_region_variant,,ENST00000484335,;LAMA1,upstream_gene_variant,,ENST00000488064,;LAMA1,upstream_gene_variant,,ENST00000490190,;							LOW	7050/9228		LAMA1_HUMAN			Transcript			.	ENSP00000374309		CCDS32787.1			1	
AKIP1	0	LGGM	GRCh37	11	8936390	8936390	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	25	7	.	.	ENST00000309377.4:c.321G>T	p.Val107=	p.V107=	ENST00000309377	NM_020642.3	107	gtG/gtT	0	1	1	UPI0000072EAA	0		ENST00000309377		ENSG00000166452	1170		32			HGNC	p.V80V		AKIP1		SNV							ENST00000529876	protein_coding			hmmpanther:PTHR14330,hmmpanther:PTHR14330:SF2		V		T		411/1327				E9PPN7_HUMAN			YES	AKIP1,synonymous_variant,p.=,ENST00000529876,;AKIP1,synonymous_variant,p.=,ENST00000309377,NM_020642.3;AKIP1,synonymous_variant,p.=,ENST00000299576,NM_001206646.1;AKIP1,synonymous_variant,p.=,ENST00000309357,NM_001206647.1;AKIP1,synonymous_variant,p.=,ENST00000525005,;AKIP1,synonymous_variant,p.=,ENST00000396648,;AKIP1,synonymous_variant,p.=,ENST00000534147,;AKIP1,synonymous_variant,p.=,ENST00000534506,;AKIP1,synonymous_variant,p.=,ENST00000524577,;AKIP1,synonymous_variant,p.=,ENST00000529942,;AKIP1,synonymous_variant,p.=,ENST00000530281,;ST5,upstream_gene_variant,,ENST00000534127,NM_005418.3;ST5,upstream_gene_variant,,ENST00000531640,;							LOW	321/633		AKIP1_HUMAN			Transcript			.	ENSP00000310459		CCDS7793.1			1	
POLH	0	LGGM	GRCh37	6	43550193	43550193	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	57	7	.	.	ENST00000372236.4:c.137G>A	p.Gly46Glu	p.G46E	ENST00000372236	NM_006502.2	46	gGa/gAa	0	1	1	UPI000006F8FD	0	getma.org/pdb.php?prot=POLH_HUMAN&from=12&to=228&var=G46E	ENST00000372236		ENSG00000170734	9181		64	3.82		HGNC	p.G46E		POLH		SNV			1				ENST00000372226	protein_coding	getma.org/?cm=var&var=hg19,6,43550193,G,A&fts=all		PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,Pfam_domain:PF00817,PIRSF_domain:PIRSF036603,Superfamily_domains:SSF56672		G/E		A	high	432/3540		getma.org/?cm=msa&ty=f&p=POLH_HUMAN&rb=12&re=228&var=G46E	deleterious(0)	Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN			YES	POLH,missense_variant,p.Gly46Glu,ENST00000372236,NM_006502.2;POLH,missense_variant,p.Gly46Glu,ENST00000372226,;POLH,intron_variant,,ENST00000535400,;POLH,intron_variant,,ENST00000443535,;							MODERATE	137/2142	G46E	POLH_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000361310		CCDS4902.1			1	
PLK3	0	LGGM	GRCh37	1	45269000	45269000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	30	7	.	.	ENST00000372201.4:c.1009C>A	p.Pro337Thr	p.P337T	ENST00000372201	NM_004073.2	337	Ccc/Acc	0	1	1	UPI000013ED1D	0	NA	ENST00000372201		ENSG00000173846	2154		37	1.7		HGNC	p.P337T		PLK3		SNV							ENST00000372201	protein_coding	getma.org/?cm=var&var=hg19,1,45269000,C,A&fts=all		Superfamily_domains:SSF56112,hmmpanther:PTHR24345:SF42,hmmpanther:PTHR24345		P/T		A	low	1248/2492		getma.org/?cm=msa&ty=f&p=PLK3_HUMAN&rb=315&re=469&var=P337T	tolerated(0.19)				YES	PLK3,missense_variant,p.Pro337Thr,ENST00000372201,NM_004073.2;TCTEX1D4,downstream_gene_variant,,ENST00000372200,NM_001013632.2;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,,ENST00000476731,;PLK3,upstream_gene_variant,,ENST00000493100,;PLK3,upstream_gene_variant,,ENST00000461358,;PLK3,upstream_gene_variant,,ENST00000461769,;							MODERATE	1009/1941	P337T	PLK3_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000361275		CCDS515.1			1	
PXDN	0	LGGM	GRCh37	2	1670036	1670036	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	22	7	.	.	ENST00000252804.4:c.1241C>T	p.Ala414Val	p.A414V	ENST00000252804	NM_012293.1	414	gCg/gTg	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=342&to=429&var=A414V	ENST00000252804		ENSG00000130508	14966		29	2.465		HGNC	p.A414V	rs773723398	PXDN		SNV			1	0.000102			ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1670036,G,A&fts=all		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/V		A	medium	1292/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=342&re=429&var=A414V	deleterious(0.03)				YES	PXDN,missense_variant,p.Ala414Val,ENST00000252804,NM_012293.1;PXDN,missense_variant,p.Ala410Val,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;							MODERATE	1241/4440	A414V	PXDN_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000252804	8.25E-06	CCDS46221.1			1	
TRPV1	0	LGGM	GRCh37	17	3470165	3470165	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	32	8	.	.	ENST00000571088.1:c.2464C>G	p.Leu822Val	p.L822V	ENST00000571088	NM_018727.5	822	Ctg/Gtg	0	1		UPI00005B2E0C	0	NA	ENST00000399756		ENSG00000196689	12716		40	1.39		HGNC	p.L822V		TRPV1		SNV							ENST00000399759	protein_coding	getma.org/?cm=var&var=hg19,17,3470165,G,C&fts=all		hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870		L/V		C	low	2991/4068		getma.org/?cm=msa&ty=f&p=TRPV1_HUMAN&rb=755&re=839&var=L822V	tolerated_low_confidence(0.09)	Q8IZY9_HUMAN				TRPV1,missense_variant,p.Leu820Val,ENST00000174621,;SHPK,missense_variant,p.Leu822Val,ENST00000572705,NM_080704.3;TRPV1,missense_variant,p.Leu822Val,ENST00000571088,NM_018727.5;TRPV1,missense_variant,p.Leu822Val,ENST00000399759,NM_080705.3;TRPV1,missense_variant,p.Leu822Val,ENST00000399756,NM_080706.3;TRPV1,missense_variant,p.Leu833Val,ENST00000425167,;TRPV1,missense_variant,p.Leu812Val,ENST00000576351,;TRPV1,missense_variant,p.Leu762Val,ENST00000310522,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;							MODERATE	2464/2520	L822V	TRPV1_HUMAN			Transcript		benign(0.045)	.	ENSP00000382659		CCDS45576.1			1	
GALC	0	LGGM	GRCh37	14	88414076	88414076	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	28	8	.	.	ENST00000261304.2:c.1485T>C	p.Asn495=	p.N495=	ENST00000261304	NM_000153.3	495	aaT/aaC	0	1	1	UPI00001FD982	0		ENST00000261304		ENSG00000054983	4115		36			HGNC	p.N469N		GALC		SNV			1				ENST00000393569	protein_coding			Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1		N		G		1592/3883							YES	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,synonymous_variant,p.=,ENST00000555179,;GALC,3_prime_UTR_variant,,ENST00000557316,;FAM35CP,upstream_gene_variant,,ENST00000554755,;							LOW	1485/2058		GALC_HUMAN			Transcript			.	ENSP00000261304		CCDS9878.2			1	
SMURF1	0	LGGM	GRCh37	7	98645338	98645338	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	61	8	.	.	ENST00000361125.1:c.1199G>A	p.Arg400His	p.R400H	ENST00000361125	NM_020429.2	400	cGc/cAc	0	1	1	UPI00000015C4	0	getma.org/pdb.php?prot=SMUF1_HUMAN&from=338&to=448&var=R400H	ENST00000361125		ENSG00000198742	16807		69	1.725		HGNC	p.R400H	rs376042717	SMURF1		SNV	T:0						ENST00000361125	protein_coding	getma.org/?cm=var&var=hg19,7,98645338,C,T&fts=all		PIRSF_domain:PIRSF001569,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF293,Superfamily_domains:SSF56204		R/H	T:0.0001	T	low	1519/5737	1.50E-05	getma.org/?cm=msa&ty=f&p=SMUF1_HUMAN&rb=338&re=448&var=R400H	tolerated(0.48)	D6W5S0_HUMAN			YES	SMURF1,missense_variant,p.Arg400His,ENST00000361125,NM_020429.2;SMURF1,missense_variant,p.Arg374His,ENST00000361368,NM_001199847.1,NM_181349.2;AC004893.11,non_coding_transcript_exon_variant,,ENST00000482799,;AC004893.11,non_coding_transcript_exon_variant,,ENST00000468960,;SMURF1,downstream_gene_variant,,ENST00000480055,;							MODERATE	1199/2274	R400H	SMUF1_HUMAN			Transcript		possibly_damaging(0.525)	.	ENSP00000354621	8.24E-06	CCDS34690.1			1	
ACTRT3	0	LGGM	GRCh37	3	169485978	169485978	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	29	8	.	.	ENST00000330368.2:c.361A>G	p.Met121Val	p.M121V	ENST00000330368	NM_032487.4	121	Atg/Gtg	0	1	1	UPI000004EE04	0	getma.org/pdb.php?prot=ARPM1_HUMAN&from=4&to=372&var=M121V	ENST00000330368		ENSG00000184378	24022		37	-1.195		HGNC	p.M121V		ACTRT3		SNV							ENST00000330368	protein_coding	getma.org/?cm=var&var=hg19,3,169485978,T,C&fts=all		hmmpanther:PTHR11937:SF159,hmmpanther:PTHR11937,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190		M/V		C	neutral	736/2005		getma.org/?cm=msa&ty=f&p=ARPM1_HUMAN&rb=4&re=372&var=M121V	tolerated(0.31)				YES	ACTRT3,missense_variant,p.Met121Val,ENST00000330368,NM_032487.4;MYNN,upstream_gene_variant,,ENST00000349841,NM_018657.4;MYNN,upstream_gene_variant,,ENST00000392733,;TERC,upstream_gene_variant,,ENST00000602385,;RP11-816J6.3,upstream_gene_variant,,ENST00000602879,;TERC,upstream_gene_variant,,ENST00000363312,;							MODERATE	361/1119	M121V	ACTT3_HUMAN			Transcript		benign(0)	.	ENSP00000333037		CCDS3206.1			1	
ITGA8	0	LGGM	GRCh37	10	15686171	15686171	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	24	8	.	.	ENST00000378076.3:c.1257G>A	p.Val419=	p.V419=	ENST00000378076	NM_003638.1	419	gtG/gtA	0	1	1	UPI00001D80A0	0		ENST00000378076		ENSG00000077943	6144		32			HGNC	p.V419V		ITGA8		SNV			1				ENST00000378076	protein_coding			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,SMART_domains:SM00191,Superfamily_domains:SSF69318		V		T		1611/6755							YES	ITGA8,synonymous_variant,p.=,ENST00000378076,NM_003638.1;ITGA8,upstream_gene_variant,,ENST00000468882,;							LOW	1257/3192		ITA8_HUMAN			Transcript			.	ENSP00000367316		CCDS31155.1			1	
UBA2	0	LGGM	GRCh37	19	34945252	34945252	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	49	8	.	.	ENST00000246548.4:c.1126A>G	p.Ile376Val	p.I376V	ENST00000246548	NM_005499.2	376	Atc/Gtc	0	1	1	UPI000004F09F	0	getma.org/pdb.php?prot=SAE2_HUMAN&from=343&to=409&var=I376V	ENST00000246548		ENSG00000126261	30661		57	0.385		HGNC	p.I376V		UBA2		SNV							ENST00000246548	protein_coding	getma.org/?cm=var&var=hg19,19,34945252,A,G&fts=all		hmmpanther:PTHR10953,Pfam_domain:PF02134,Gene3D:1y8qD02,Superfamily_domains:SSF69572		I/V		G	neutral	1196/2720		getma.org/?cm=msa&ty=f&p=SAE2_HUMAN&rb=343&re=409&var=I376V	tolerated(0.29)	U3KQ93_HUMAN,B3KWB9_HUMAN			YES	UBA2,missense_variant,p.Ile280Val,ENST00000439527,;UBA2,missense_variant,p.Ile376Val,ENST00000246548,NM_005499.2;UBA2,missense_variant,p.Ile113Val,ENST00000591016,;UBA2,upstream_gene_variant,,ENST00000592791,;UBA2,downstream_gene_variant,,ENST00000590048,;UBA2,3_prime_UTR_variant,,ENST00000586313,;							MODERATE	1126/1923	I376V	SAE2_HUMAN			Transcript		benign(0.02)	.	ENSP00000246548		CCDS12439.1			1	
WASF1	0	LGGM	GRCh37	6	110422970	110422970	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	29	8	.	.	ENST00000392589.1:c.1343T>G	p.Leu448Arg	p.L448R	ENST00000392589	NM_003931.2	448	cTt/cGt	0	1		UPI000003AC31	0	NA	ENST00000359451		ENSG00000112290	12732		37	0		HGNC	p.L448R		WASF1		SNV							ENST00000392586	protein_coding	getma.org/?cm=var&var=hg19,6,110422970,A,C&fts=all		hmmpanther:PTHR12902		L/R		C	neutral	2035/3075		getma.org/?cm=msa&ty=f&p=WASF1_HUMAN&rb=401&re=493&var=L448R	tolerated(0.05)	Q5SZK5_HUMAN,Q5SZK4_HUMAN,Q5SZK3_HUMAN				WASF1,missense_variant,p.Leu448Arg,ENST00000392589,NM_003931.2;WASF1,missense_variant,p.Leu448Arg,ENST00000392588,NM_001024934.1;WASF1,missense_variant,p.Leu448Arg,ENST00000359451,NM_001024935.1;WASF1,missense_variant,p.Leu448Arg,ENST00000392586,;WASF1,missense_variant,p.Leu448Arg,ENST00000392587,NM_001024936.1;							MODERATE	1343/1680	L448R	WASF1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000352425		CCDS5080.1			1	
LIMCH1	0	LGGM	GRCh37	4	41635606	41635606	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	23	9	.	.	ENST00000313860.7:c.936-5343A>C		*312*	ENST00000313860	NM_014988.2			0	1	1	UPI0000D61554	0		ENST00000313860		ENSG00000064042	29191		32			HGNC	p.E624A		LIMCH1		SNV							ENST00000503057	protein_coding							C		-/6165				D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN			YES	LIMCH1,missense_variant,p.Glu624Ala,ENST00000503057,;LIMCH1,intron_variant,,ENST00000313860,NM_014988.2;LIMCH1,intron_variant,,ENST00000396595,NM_001112719.1;LIMCH1,intron_variant,,ENST00000381753,NM_001112720.1;LIMCH1,intron_variant,,ENST00000513024,;LIMCH1,intron_variant,,ENST00000512820,;LIMCH1,intron_variant,,ENST00000512946,NM_001112717.1;LIMCH1,intron_variant,,ENST00000508501,NM_001112718.1;LIMCH1,intron_variant,,ENST00000512632,;LIMCH1,intron_variant,,ENST00000514096,;LIMCH1,intron_variant,,ENST00000509277,;LIMCH1,intron_variant,,ENST00000511496,;LIMCH1,intron_variant,,ENST00000508466,;							MODIFIER	-/3252		LIMC1_HUMAN			Transcript			.	ENSP00000316891		CCDS33977.1			1	
TAOK2	0	LGGM	GRCh37	16	29998021	29998021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	40	10	.	.	ENST00000308893.4:c.2428G>A	p.Glu810Lys	p.E810K	ENST00000308893	NM_016151.3	810	Gag/Aag	0	1	1	UPI000013EDDA	0	NA	ENST00000308893		ENSG00000149930	16835		50	0		HGNC	p.E637K		TAOK2		SNV							ENST00000416441	protein_coding	getma.org/?cm=var&var=hg19,16,29998021,G,A&fts=all				E/K		A	neutral	3471/5169		getma.org/?cm=msa&ty=f&p=TAOK2_HUMAN&rb=748&re=1233&var=E810K	tolerated_low_confidence(0.21)				YES	TAOK2,missense_variant,p.Glu810Lys,ENST00000308893,NM_016151.3,NM_001252043.1;TAOK2,missense_variant,p.Glu637Lys,ENST00000416441,;TAOK2,intron_variant,,ENST00000279394,NM_004783.3;TAOK2,intron_variant,,ENST00000543033,;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,;							MODERATE	2428/3708	E810K	TAOK2_HUMAN			Transcript		benign(0.001)	.	ENSP00000310094		CCDS10663.1			1	
RYR3	0	LGGM	GRCh37	15	34064309	34064309	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	52	10	.	.	ENST00000389232.4:c.9005C>T	p.Thr3002Met	p.T3002M	ENST00000389232	NM_001036.3	3002	aCg/aTg	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485	9.09E-05	62	2.07		HGNC	p.T3002M	rs776121340	RYR3		SNV							ENST00000389232	protein_coding	getma.org/?cm=var&var=hg19,15,34064309,C,T&fts=all		hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		T/M		T	medium	9075/15559	3.08E-05	getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2804&re=3003&var=T3002M					YES	RYR3,missense_variant,p.Thr3002Met,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Thr3002Met,ENST00000415757,NM_001243996.1;							MODERATE	9005/14613	T3002M	RYR3_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000373884	2.48E-05	CCDS45210.1			1	
STRIP2	0	LGGM	GRCh37	7	129125554	129125554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	34	10	.	.	ENST00000249344.2:c.2389G>T	p.Val797Leu	p.V797L	ENST00000249344	NM_020704.2	797	Gta/Tta	0	1	1	UPI00001C1E68	0	NA	ENST00000249344		ENSG00000128578	22209		44	1.555		HGNC	p.V797L		STRIP2		SNV							ENST00000249344	protein_coding	getma.org/?cm=var&var=hg19,7,129125554,G,T&fts=all		Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		V/L		T	low	2429/5115		getma.org/?cm=msa&ty=f&p=FA40B_HUMAN&rb=412&re=813&var=V797L	tolerated(0.16)	A4D1K4_HUMAN			YES	STRIP2,missense_variant,p.Val797Leu,ENST00000249344,NM_020704.2;STRIP2,downstream_gene_variant,,ENST00000435494,NM_001134336.1;RNU1-72P,downstream_gene_variant,,ENST00000362976,;							MODERATE	2389/2505	V797L	STRP2_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000249344		CCDS34752.1			1	
TLL1	0	LGGM	GRCh37	4	166976326	166976326	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	20	10	.	.	ENST00000061240.2:c.1623A>G	p.Lys541=	p.K541=	ENST00000061240	NM_012464.4	541	aaA/aaG	0	1	1	UPI0000072EED	0		ENST00000061240		ENSG00000038295	11843		30			HGNC	p.K541K		TLL1		SNV			1				ENST00000061240	protein_coding			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		K		G		2270/6708				D6RCE0_HUMAN			YES	TLL1,synonymous_variant,p.=,ENST00000061240,NM_012464.4;TLL1,synonymous_variant,p.=,ENST00000507499,;RNA5SP170,upstream_gene_variant,,ENST00000517150,;TLL1,3_prime_UTR_variant,,ENST00000509505,;							LOW	1623/3042		TLL1_HUMAN			Transcript			.	ENSP00000061240		CCDS3811.1			1	
ASPM	0	LGGM	GRCh37	1	197074148	197074148	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	76	10	.	.	ENST00000367409.4:c.4233A>G	p.Lys1411=	p.K1411=	ENST00000367409	NM_018136.4	1411	aaA/aaG	0	1	1	UPI0000458904	0		ENST00000367409		ENSG00000066279	19048		86			HGNC	p.K1411K		ASPM		SNV			1				ENST00000367409	protein_coding			Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015		K		C		4490/10887							YES	ASPM,synonymous_variant,p.=,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;							LOW	4233/10434		ASPM_HUMAN			Transcript			.	ENSP00000356379		CCDS1389.1			1	
ZNF423	0	LGGM	GRCh37	16	49670327	49670327	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	25	12	.	.	ENST00000561648.1:c.2736G>T	p.Arg912=	p.R912=	ENST00000561648	NM_015069.3	912	cgG/cgT	0	1		UPI0000353ABC	0		ENST00000262383		ENSG00000102935	16762		37			HGNC	p.R795R		ZNF423		SNV			1				ENST00000567169	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF49		R		A		3034/4817				F5H7S1_HUMAN,B3KNG7_HUMAN				ZNF423,synonymous_variant,p.=,ENST00000561648,NM_015069.3;ZNF423,synonymous_variant,p.=,ENST00000563137,;ZNF423,synonymous_variant,p.=,ENST00000262383,;ZNF423,synonymous_variant,p.=,ENST00000562871,;ZNF423,synonymous_variant,p.=,ENST00000535559,;ZNF423,synonymous_variant,p.=,ENST00000562520,NM_001271620.1;ZNF423,synonymous_variant,p.=,ENST00000567169,;							LOW	2736/3855		ZN423_HUMAN			Transcript			.	ENSP00000262383		CCDS32445.1			1	
TEX26	0	LGGM	GRCh37	13	31531035	31531035	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	26	12	.	.	ENST00000380473.3:c.338A>G	p.His113Arg	p.H113R	ENST00000380473	NM_152325.1	113	cAc/cGc	0	1	1	UPI0000070D41	0	NA	ENST00000380473		ENSG00000175664	28622		38	0		HGNC	p.H113R		TEX26		SNV							ENST00000380473	protein_coding	getma.org/?cm=var&var=hg19,13,31531035,A,G&fts=all				H/R		G	neutral	351/1478		getma.org/?cm=msa&ty=f&p=TEX26_HUMAN&rb=1&re=200&var=H113R	tolerated(0.78)				YES	TEX26,missense_variant,p.His113Arg,ENST00000380473,NM_152325.1;TEX26,upstream_gene_variant,,ENST00000530916,;TEX26,missense_variant,p.Thr55Ala,ENST00000531960,;							MODERATE	338/870	H113R	TEX26_HUMAN			Transcript		benign(0)	.	ENSP00000369840		CCDS9339.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232551371	232551371	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	55	13	.	.	ENST00000366630.1:c.4631A>G	p.Asn1544Ser	p.N1544S	ENST00000366630		1544	aAt/aGt	0	1		UPI00001D7D6A	0	NA	ENST00000262861		ENSG00000116991	23800		68	0.63		HGNC	p.N1544S		SIPA1L2		SNV							ENST00000366630	protein_coding	getma.org/?cm=var&var=hg19,1,232551371,T,C&fts=all		Pfam_domain:PF11881,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		N/S		C	neutral	4858/6555		getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=1418&re=1666&var=N1544S	tolerated(1)					SIPA1L2,missense_variant,p.Asn1544Ser,ENST00000366630,;SIPA1L2,missense_variant,p.Asn1544Ser,ENST00000262861,NM_020808.3;SIPA1L2,missense_variant,p.Asn618Ser,ENST00000308942,;SIPA1L2,non_coding_transcript_exon_variant,,ENST00000495863,;							MODERATE	4631/5169	N1544S	SI1L2_HUMAN			Transcript		benign(0.044)	.	ENSP00000262861		CCDS41474.1			1	
PITRM1	0	LGGM	GRCh37	10	3212338	3212338	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	54	13	.	.	ENST00000380989.2:c.117G>A	p.Gln39=	p.Q39=	ENST00000380989	NM_014889.3	39	caG/caA	0	1		UPI00001F8A38	0		ENST00000224949		ENSG00000107959	17663		67			HGNC	p.Q39Q		PITRM1		SNV							ENST00000380989	protein_coding			hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF68		Q		T		152/3450								PITRM1,synonymous_variant,p.=,ENST00000380989,NM_014889.3,NM_001242307.1;PITRM1,synonymous_variant,p.=,ENST00000224949,;PITRM1,intron_variant,,ENST00000451104,NM_001242309.1;PITRM1-AS1,downstream_gene_variant,,ENST00000598280,;PITRM1,upstream_gene_variant,,ENST00000488065,;							LOW	117/3114		PREP_HUMAN			Transcript			.	ENSP00000224949		CCDS59208.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H060674	H060674N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	38	14	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		52			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
NEK2	0	LGGM	GRCh37	1	211846897	211846897	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	50	15	.	.	ENST00000366999.4:c.483G>C	p.Gly161=	p.G161=	ENST00000366999	NM_002497.3	161	ggG/ggC	0	1	1	UPI000012FF27	0		ENST00000366999		ENSG00000117650	7745		65			HGNC	p.G118G		NEK2		SNV			1				ENST00000540251	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		G		G		622/2131				B4DZU0_HUMAN			YES	NEK2,synonymous_variant,p.=,ENST00000366999,NM_002497.3;NEK2,synonymous_variant,p.=,ENST00000366998,NM_001204183.1;NEK2,synonymous_variant,p.=,ENST00000540251,;RP11-122M14.1,upstream_gene_variant,,ENST00000415202,;NEK2,upstream_gene_variant,,ENST00000462283,;NEK2,upstream_gene_variant,,ENST00000489633,;							LOW	483/1338		NEK2_HUMAN			Transcript			.	ENSP00000355966		CCDS1500.1			1	
NUP205	0	LGGM	GRCh37	7	135329650	135329650	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060674	H060674N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	39	15	.	.	ENST00000285968.6:c.5567A>G	p.Gln1856Arg	p.Q1856R	ENST00000285968	NM_015135.2	1856	cAg/cGg	0	1	1	UPI00001D74D8	0	NA	ENST00000285968		ENSG00000155561	18658		54	0.695		HGNC	p.Q1856R		NUP205		SNV							ENST00000285968	protein_coding	getma.org/?cm=var&var=hg19,7,135329650,A,G&fts=all		hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344		Q/R		G	neutral	5593/6266		getma.org/?cm=msa&ty=f&p=NU205_HUMAN&rb=1731&re=1930&var=Q1856R	tolerated(0.28)	Q6P486_HUMAN,Q6DKH1_HUMAN			YES	NUP205,missense_variant,p.Gln1856Arg,ENST00000285968,NM_015135.2;NUP205,missense_variant,p.Gln2Arg,ENST00000490439,;NUP205,3_prime_UTR_variant,,ENST00000477620,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,non_coding_transcript_exon_variant,,ENST00000461255,;NUP205,upstream_gene_variant,,ENST00000491089,;							MODERATE	5567/6039	Q1856R	NU205_HUMAN			Transcript		possibly_damaging(0.76)	.	ENSP00000285968		CCDS34759.1			1	
RFX6	0	LGGM	GRCh37	6	117199014	117199014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	47	15	.	.	ENST00000332958.2:c.279C>A	p.His93Gln	p.H93Q	ENST00000332958	NM_173560.3	93	caC/caA	0	1	1	UPI00001609BE	0	NA	ENST00000332958		ENSG00000185002	21478		62	-0.805		HGNC	p.H93Q		RFX6		SNV			1				ENST00000332958	protein_coding	getma.org/?cm=var&var=hg19,6,117199014,C,A&fts=all		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF16		H/Q		A	neutral	295/3460		getma.org/?cm=msa&ty=f&p=RFX6_HUMAN&rb=66&re=95&var=H93Q	tolerated_low_confidence(0.39)				YES	RFX6,missense_variant,p.His93Gln,ENST00000332958,NM_173560.3;RFX6,non_coding_transcript_exon_variant,,ENST00000487683,;							MODERATE	279/2787	H93Q	RFX6_HUMAN			Transcript		benign(0.001)	.	ENSP00000332208		CCDS5113.1			1	
MKI67	0	LGGM	GRCh37	10	129913607	129913607	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	36	19	.	.	ENST00000368654.3:c.1065A>G	p.Gln355=	p.Q355=	ENST00000368654	NM_002417.4	355	caA/caG	0	1	1	UPI000013DB54	0		ENST00000368654		ENSG00000148773	7107		55			HGNC	p.Q355Q		MKI67		SNV							ENST00000368654	protein_coding			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3		Q		C		1441/12678							YES	MKI67,synonymous_variant,p.=,ENST00000368654,NM_002417.4;MKI67,intron_variant,,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000484853,;MKI67,downstream_gene_variant,,ENST00000478293,;							LOW	1065/9771		KI67_HUMAN			Transcript			.	ENSP00000357643		CCDS7659.1			1	
RGPD3	0	LGGM	GRCh37	2	107029592	107029592	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	75	20	.	.	ENST00000409886.3:c.5214G>A	p.Thr1738=	p.T1738=	ENST00000409886	NM_001144013.1	1738	acG/acA	0	1	1	UPI00006C049F	0		ENST00000409886		ENSG00000153165	32416		95			HGNC	p.T1738T		RGPD3		SNV							ENST00000304514	protein_coding			Gene3D:1uptF00,Pfam_domain:PF01465,PROSITE_profiles:PS50913,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,SMART_domains:SM00755		T		T		5302/5594				I1Z9D1_HUMAN			YES	RGPD3,synonymous_variant,p.=,ENST00000409886,NM_001144013.1;RGPD3,synonymous_variant,p.=,ENST00000304514,;							LOW	5214/5277		RGPD3_HUMAN			Transcript			.	ENSP00000386588		CCDS46379.1			1	
AL359195.1	0	LGGM	GRCh37	10	82012580	82012580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060674	H060674N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	79	20	.	.	ENST00000356374.4:c.98C>A	p.Ser33Tyr	p.S33Y	ENST00000356374		33	tCc/tAc	0	1	1	UPI00001C0F61	0		ENST00000356374		ENSG00000204038			99			Clone_based_ensembl_gene	p.S33Y		AL359195.1		SNV							ENST00000356374	protein_coding			Low_complexity_(Seg):seg		S/Y		A		3115/3930			tolerated_low_confidence(0.08)	Q6ZRL6_HUMAN			YES	AL359195.1,missense_variant,p.Ser33Tyr,ENST00000356374,;							MODERATE	98/843					Transcript		unknown(0)	.	ENSP00000348738					1	
ANKRD18B	0	LGGM	GRCh37	9	33528724	33528724	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	65	21	.	.	ENST00000290943.6:c.207-1G>A		p.X69_splice	ENST00000290943	NM_001244752.1			0	1	1	UPI0000EE047B	0		ENST00000290943		ENSG00000230453	23644		86			HGNC	-		ANKRD18B		SNV							ENST00000290943	protein_coding							A		-/3773							YES	ANKRD18B,splice_acceptor_variant,,ENST00000290943,NM_001244752.1;ANKRD18B,upstream_gene_variant,,ENST00000484634,;ANKRD18B,upstream_gene_variant,,ENST00000474881,;ANKRD18B,non_coding_transcript_exon_variant,,ENST00000496561,;							HIGH	207/3036		AN18B_HUMAN			Transcript			.	ENSP00000290943					1	
MUC4	0	LGGM	GRCh37	3	195511734	195511734	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	215	21	.	.	ENST00000463781.3:c.6717C>A	p.Thr2239=	p.T2239=	ENST00000463781	NM_018406.6	2239	acC/acA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		236			HGNC	p.T2239T		MUC4		SNV							ENST00000463781	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T		T		7177/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;							LOW	6717/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
MUC4	0	LGGM	GRCh37	3	195511733	195511733	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	216	21	.	.	ENST00000463781.3:c.6718C>A	p.Pro2240Thr	p.P2240T	ENST00000463781	NM_018406.6	2240	Cct/Act	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		237	0.55		HGNC	p.P2240T		MUC4		SNV							ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195511733,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		P/T		T	neutral	7178/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=P2240T		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Pro2240Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro2240Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro2240Thr,ENST00000478156,;MUC4,missense_variant,p.Pro2240Thr,ENST00000466475,;MUC4,missense_variant,p.Pro2240Thr,ENST00000477756,;MUC4,missense_variant,p.Pro2240Thr,ENST00000477086,;MUC4,missense_variant,p.Pro2240Thr,ENST00000480843,;MUC4,missense_variant,p.Pro2240Thr,ENST00000462323,;MUC4,missense_variant,p.Pro2240Thr,ENST00000470451,;MUC4,missense_variant,p.Pro2240Thr,ENST00000479406,;							MODERATE	6718/16239	P2240T				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
TCF20	0	LGGM	GRCh37	22	42609792	42609792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060674	H060674N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	67	23	.	.	ENST00000359486.3:c.1520C>T	p.Pro507Leu	p.P507L	ENST00000359486	NM_005650.2	507	cCt/cTt	0	1	1	UPI00001A95D9	0	NA	ENST00000359486		ENSG00000100207	11631		90	0.345		HGNC	p.P507L		TCF20		SNV							ENST00000359486	protein_coding	getma.org/?cm=var&var=hg19,22,42609792,G,A&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7		P/L		A	neutral	1657/7410		getma.org/?cm=msa&ty=f&p=TCF20_HUMAN&rb=490&re=1239&var=P507L		I3L1M7_HUMAN			YES	TCF20,missense_variant,p.Pro507Leu,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Pro507Leu,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							MODERATE	1520/5883	P507L	TCF20_HUMAN			Transcript		benign(0.089)	.	ENSP00000352463		CCDS14033.1			1	
PSMD6	0	LGGM	GRCh37	3	64004663	64004663	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060674	H060674N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060674N.bam, H060674T.bam	Illumina HiSeq	76	29	.	.	ENST00000295901.4:c.548A>G	p.Tyr183Cys	p.Y183C	ENST00000295901	NM_014814.2	183	tAt/tGt	0	1	1	UPI0000132787	0	NA	ENST00000295901		ENSG00000163636	9564		105	3.81		HGNC	p.Y183C		PSMD6		SNV							ENST00000295901	protein_coding	getma.org/?cm=var&var=hg19,3,64004663,T,C&fts=all		hmmpanther:PTHR14145:SF1,hmmpanther:PTHR14145,Pfam_domain:PF10602,Superfamily_domains:SSF48452		Y/C		C	high	689/1430		getma.org/?cm=msa&ty=f&p=PSMD6_HUMAN&rb=66&re=239&var=Y183C	deleterious(0)				YES	PSMD6,missense_variant,p.Tyr236Cys,ENST00000492933,NM_001271779.1;PSMD6,missense_variant,p.Tyr183Cys,ENST00000295901,NM_014814.2;PSMD6,missense_variant,p.Tyr145Cys,ENST00000394431,NM_001271780.1;PSMD6,missense_variant,p.Tyr144Cys,ENST00000482510,NM_001271781.1;PSMD6,missense_variant,p.Tyr197Cys,ENST00000497323,;PSMD6,missense_variant,p.Tyr31Cys,ENST00000480205,;PSMD6,downstream_gene_variant,,ENST00000478185,;RP11-245J9.4,downstream_gene_variant,,ENST00000462717,;RP11-245J9.6,upstream_gene_variant,,ENST00000605919,;PSMD6,non_coding_transcript_exon_variant,,ENST00000476464,;PSMD6,non_coding_transcript_exon_variant,,ENST00000475036,;PSMD6,non_coding_transcript_exon_variant,,ENST00000497315,;PSMD6,upstream_gene_variant,,ENST00000467853,;							MODERATE	548/1170	Y183C	PSMD6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295901		CCDS2901.1			1	
FOXD3	0	LGGM	GRCh37	1	63790044	63790044	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	4	2	.	.	ENST00000371116.2:c.1315C>A	p.Arg439=	p.R439=	ENST00000371116	NM_012183.2	439	Cgg/Agg	0	1	1	UPI000012ADCB	0		ENST00000371116		ENSG00000187140	3804		6			HGNC	p.R439R		FOXD3		SNV			1				ENST00000371116	protein_coding			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF121		R		A		1315/2068							YES	FOXD3,synonymous_variant,p.=,ENST00000371116,NM_012183.2;RP4-792G4.2,non_coding_transcript_exon_variant,,ENST00000427268,;RP4-792G4.2,upstream_gene_variant,,ENST00000418244,;RP4-792G4.2,upstream_gene_variant,,ENST00000449386,;RP4-792G4.2,upstream_gene_variant,,ENST00000431294,;RP4-792G4.2,upstream_gene_variant,,ENST00000426393,;							LOW	1315/1437		FOXD3_HUMAN			Transcript			.	ENSP00000360157		CCDS624.1			1	
POLE	0	LGGM	GRCh37	12	133214718	133214718	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	18	2	.	.	ENST00000320574.5:c.5560G>T	p.Ala1854Ser	p.A1854S	ENST00000320574	NM_006231.2	1854	Gct/Tct	0	1	1	UPI00001FBF97	0	NA	ENST00000320574		ENSG00000177084	9177		20	1.33		HGNC	p.A1854S		POLE		SNV			1				ENST00000320574	protein_coding	getma.org/?cm=var&var=hg19,12,133214718,C,A&fts=all		hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0,Pfam_domain:PF08490		A/S		A	low	5604/7840		getma.org/?cm=msa&ty=f&p=DPOE1_HUMAN&rb=1525&re=1925&var=A1854S	tolerated(0.2)	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN			YES	POLE,missense_variant,p.Ala1854Ser,ENST00000320574,NM_006231.2;POLE,missense_variant,p.Ala1827Ser,ENST00000535270,;POLE,non_coding_transcript_exon_variant,,ENST00000434528,;POLE,upstream_gene_variant,,ENST00000544870,;POLE,upstream_gene_variant,,ENST00000441786,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000541213,;POLE,upstream_gene_variant,,ENST00000544692,;POLE,upstream_gene_variant,,ENST00000544414,;POLE,upstream_gene_variant,,ENST00000416953,;POLE,downstream_gene_variant,,ENST00000542362,;							MODERATE	5560/6861	A1854S	DPOE1_HUMAN			Transcript		benign(0.302)	.	ENSP00000322570		CCDS9278.1			1	
DIAPH3	0	LGGM	GRCh37	13	60490377	60490377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	15	2	.	.	ENST00000400324.4:c.2177T>A	p.Phe726Tyr	p.F726Y	ENST00000400324	NM_001042517.1	726	tTc/tAc	0	1	1	UPI0000DAC774	0	getma.org/pdb.php?prot=DIAP3_HUMAN&from=636&to=1009&var=F726Y	ENST00000400324		ENSG00000139734	15480		17	3.21		HGNC	p.F715Y		DIAPH3		SNV			1				ENST00000377908	protein_coding	getma.org/?cm=var&var=hg19,13,60490377,A,T&fts=all		Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,SMART_domains:SM00498,Superfamily_domains:SSF101447		F/Y		T	medium	2398/4804		getma.org/?cm=msa&ty=f&p=DIAP3_HUMAN&rb=636&re=1009&var=F726Y	deleterious(0.01)				YES	DIAPH3,missense_variant,p.Phe726Tyr,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Phe726Tyr,ENST00000400330,;DIAPH3,missense_variant,p.Phe715Tyr,ENST00000377908,;DIAPH3,missense_variant,p.Phe726Tyr,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Phe680Tyr,ENST00000400320,NM_001258367.1;DIAPH3,missense_variant,p.Phe656Tyr,ENST00000400319,NM_001258368.1;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;							MODERATE	2177/3582	F726Y	DIAP3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000383178		CCDS41898.1			1	
FOXI1	0	LGGM	GRCh37	5	169535167	169535167	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	35	3	.	.	ENST00000306268.6:c.689C>A	p.Ala230Asp	p.A230D	ENST00000306268		230	gCc/gAc	0	1	1	UPI000013EB16	0	NA	ENST00000306268		ENSG00000168269	3815		38	2.08		HGNC	p.A230D		FOXI1		SNV			1				ENST00000306268	protein_coding	getma.org/?cm=var&var=hg19,5,169535167,C,A&fts=all		hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042		A/D		A	medium	750/1990		getma.org/?cm=msa&ty=f&p=FOXI1_HUMAN&rb=230&re=376&var=A230D	tolerated(0.32)	E0XEN6_HUMAN			YES	FOXI1,missense_variant,p.Ala230Asp,ENST00000306268,;FOXI1,intron_variant,,ENST00000449804,NM_012188.4,NM_144769.2;							MODERATE	689/1137	A230D	FOXI1_HUMAN			Transcript		benign(0.287)	.	ENSP00000304286		CCDS4372.1			1	
WNT6	0	LGGM	GRCh37	2	219735819	219735819	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	17	3	.	.	ENST00000233948.3:c.151C>T	p.Gln51Ter	p.Q51*	ENST00000233948	NM_006522.3	51	Cag/Tag	0	1	1	UPI0000051047	0	NA	ENST00000233948		ENSG00000115596	12785		20	0		HGNC	p.Q51X		WNT6		SNV							ENST00000233948	protein_coding	getma.org/?cm=var&var=hg19,2,219735819,C,T&fts=all		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF72,Pfam_domain:PF00110,SMART_domains:SM00097		Q/*		T	NA	368/1703		NA		Q53S45_HUMAN			YES	WNT6,stop_gained,p.Gln51Ter,ENST00000233948,NM_006522.3;WNT6,intron_variant,,ENST00000486233,;							HIGH	151/1098	Q51*	WNT6_HUMAN			Transcript			.	ENSP00000233948		CCDS2425.1			1	
CD276	0	LGGM	GRCh37	15	74002020	74002020	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	42	3	.	.	ENST00000318443.5:c.1536C>A	p.Gly512=	p.G512=	ENST00000318443	NM_001024736.1	512	ggC/ggA	0	1	1	UPI0000034C25	0		ENST00000318443		ENSG00000103855	19137		45			HGNC	p.G294G		CD276		SNV							ENST00000564751	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24100		G		A		1838/3469				H0YN85_HUMAN,H0YLT8_HUMAN,H0YKQ9_HUMAN,H0YK59_HUMAN,H0YK40_HUMAN			YES	CD276,synonymous_variant,p.=,ENST00000318443,NM_001024736.1;CD276,synonymous_variant,p.=,ENST00000318424,NM_025240.2;CD276,synonymous_variant,p.=,ENST00000561213,;CD276,synonymous_variant,p.=,ENST00000537340,;CD276,synonymous_variant,p.=,ENST00000564751,;CD276,synonymous_variant,p.=,ENST00000561176,;CD276,synonymous_variant,p.=,ENST00000559073,;CD276,3_prime_UTR_variant,,ENST00000560928,;CD276,non_coding_transcript_exon_variant,,ENST00000559978,;CD276,upstream_gene_variant,,ENST00000559465,;CD276,downstream_gene_variant,,ENST00000557951,;							LOW	1536/1605		CD276_HUMAN			Transcript			.	ENSP00000320084		CCDS32288.1			1	
DOCK2	0	LGGM	GRCh37	5	169111328	169111328	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	80	4	.	.	ENST00000256935.8:c.735C>A	p.Tyr245Ter	p.Y245*	ENST00000256935	NM_004946.2	245	taC/taA	0	1	1	UPI00001A38CC	0	NA	ENST00000256935		ENSG00000134516	2988		84	0		HGNC	p.Y245X		DOCK2		SNV							ENST00000256935	protein_coding	getma.org/?cm=var&var=hg19,5,169111328,C,A&fts=all		hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317		Y/*		A	NA	815/6097		NA		Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,stop_gained,p.Tyr245Ter,ENST00000256935,NM_004946.2;DOCK2,downstream_gene_variant,,ENST00000522138,;DOCK2,stop_gained,p.Tyr245Ter,ENST00000524185,;							HIGH	735/5493	Y245*	DOCK2_HUMAN			Transcript			.	ENSP00000256935		CCDS4371.1			1	
ANKRD31	0	LGGM	GRCh37	5	74532470	74532470	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	34	4	.	.	ENST00000506364.2:c.42A>G	p.Glu14=	p.E14=	ENST00000506364		14	gaA/gaG	0	1		UPI00001D7FAE	0		ENST00000274361		ENSG00000145700	26853		38			HGNC	p.E14E		ANKRD31		SNV							ENST00000274361	protein_coding					E		C		234/6036				H0YAM5_HUMAN,D6RJB7_HUMAN				ANKRD31,synonymous_variant,p.=,ENST00000506364,;ANKRD31,synonymous_variant,p.=,ENST00000274361,NM_001164443.1;							LOW	42/5622		ANR31_HUMAN			Transcript			.	ENSP00000274361		CCDS47233.1			1	
PEX12	0	LGGM	GRCh37	17	33905025	33905025	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	44	4	.	.	ENST00000225873.4:c.16G>T	p.Ala6Ser	p.A6S	ENST00000225873	NM_000286.2	6	Gct/Tct	0	1	1	UPI0000131703	0	NA	ENST00000225873		ENSG00000108733	8854		48	2.225		HGNC	p.A6S	COSM1630149	PEX12		SNV			1			1	ENST00000225873	protein_coding	getma.org/?cm=var&var=hg19,17,33905025,C,A&fts=all		hmmpanther:PTHR12888:SF0,hmmpanther:PTHR12888,PIRSF_domain:PIRSF038074		A/S		A	medium	624/2675		getma.org/?cm=msa&ty=f&p=PEX12_HUMAN&rb=1&re=55&var=A6S	deleterious(0)	K7ELY8_HUMAN			YES	PEX12,missense_variant,p.Ala6Ser,ENST00000225873,NM_000286.2;PEX12,missense_variant,p.Ala6Ser,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.Ala6Ser,ENST00000586663,;					1		MODERATE	16/1080	A6S	PEX12_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000225873		CCDS11296.1			1	
PPARGC1A	0	LGGM	GRCh37	4	23886421	23886421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	36	4	.	.	ENST00000264867.2:c.188A>G	p.Glu63Gly	p.E63G	ENST00000264867	NM_013261.3	63	gAa/gGa	0	1	1	UPI000004D072	0	NA	ENST00000264867		ENSG00000109819	9237		40	2.67		HGNC	p.E63G		PPARGC1A		SNV			1				ENST00000506055	protein_coding	getma.org/?cm=var&var=hg19,4,23886421,T,C&fts=all		hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528		E/G		C	medium	308/6318		getma.org/?cm=msa&ty=f&p=PRGC1_HUMAN&rb=1&re=671&var=E63G	deleterious(0)	G8DM16_HUMAN			YES	PPARGC1A,missense_variant,p.Glu63Gly,ENST00000264867,NM_013261.3;PPARGC1A,missense_variant,p.Glu63Gly,ENST00000507380,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000515534,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000503714,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000507342,;PPARGC1A,upstream_gene_variant,,ENST00000509702,;PPARGC1A,upstream_gene_variant,,ENST00000509642,;PPARGC1A,upstream_gene_variant,,ENST00000508380,;PPARGC1A,upstream_gene_variant,,ENST00000512169,;PPARGC1A,upstream_gene_variant,,ENST00000514517,;PPARGC1A,missense_variant,p.Glu63Gly,ENST00000506055,;PPARGC1A,missense_variant,p.Glu63Gly,ENST00000513205,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000514494,;PPARGC1A,upstream_gene_variant,,ENST00000505469,;							MODERATE	188/2397	E63G	PRGC1_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000264867		CCDS3429.1			1	
SH3RF3	0	LGGM	GRCh37	2	109964324	109964324	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	5	4	.	.	ENST00000309415.6:c.768C>A	p.His256Gln	p.H256Q	ENST00000309415	NM_001099289.1	256	caC/caA	0	1	1	UPI0000DD7AEA	0		ENST00000309415		ENSG00000172985	24699		9			HGNC	p.H256Q		SH3RF3		SNV							ENST00000418513	protein_coding			Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Superfamily_domains:SSF50044,Superfamily_domains:SSF50044		H/Q		A		768/2649			tolerated(1)	C9JNJ4_HUMAN			YES	SH3RF3,missense_variant,p.His256Gln,ENST00000309415,NM_001099289.1;SH3RF3,missense_variant,p.His256Gln,ENST00000418513,;							MODERATE	768/2649		SH3R3_HUMAN			Transcript		benign(0)	.	ENSP00000309186					1	
MAPKAPK3	0	LGGM	GRCh37	3	50655021	50655036	+	frameshift_variant	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGC	CAGGGGGGCCCTGTGC	-	novel	by Submitter	H060690	H060690N.bam	CAGGGGGGCCCTGTGC	CAGGGGGGCCCTGTGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	6	5	.	.	ENST00000446044.1:c.26_41del	p.Gln9ProfsTer26	p.Q9Pfs*26	ENST00000446044	NM_001243926.1	9	CAGGGGGGCCCTGTGCcc/cc	0	1		UPI0000073D7E	0		ENST00000357955		ENSG00000114738	6888		11			HGNC	p.9_14del		MAPKAPK3		deletion							ENST00000457064	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF64		QGGPVP/X		-		134-149/2500				C9JPW3_HUMAN,C9J8E1_HUMAN				MAPKAPK3,frameshift_variant,p.Gln9ProfsTer26,ENST00000446044,NM_001243926.1;MAPKAPK3,frameshift_variant,p.Gln9ProfsTer26,ENST00000357955,NM_001243925.1,NM_004635.4;MAPKAPK3,frameshift_variant,p.Gln9ProfsTer26,ENST00000430409,;MAPKAPK3,frameshift_variant,p.Gln9ProfsTer26,ENST00000457064,;MAPKAPK3,downstream_gene_variant,,ENST00000497283,;MAPKAPK3,downstream_gene_variant,,ENST00000486712,;							HIGH	25-40/1149		MAPK3_HUMAN			Transcript	1		.	ENSP00000350639		CCDS2832.1			1	
TNPO1	0	LGGM	GRCh37	5	72171543	72171543	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	44	5	.	.	ENST00000337273.5:c.780T>G	p.Pro260=	p.P260=	ENST00000337273	NM_002270.3	260	ccT/ccG	0	1	1	UPI000020CAB6	0		ENST00000337273		ENSG00000083312	6401		49			HGNC	p.P210P		TNPO1		SNV							ENST00000523768	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527		P		G		1206/11183				S4R398_HUMAN			YES	TNPO1,synonymous_variant,p.=,ENST00000337273,NM_002270.3;TNPO1,synonymous_variant,p.=,ENST00000454282,;TNPO1,synonymous_variant,p.=,ENST00000506351,NM_153188.2;TNPO1,synonymous_variant,p.=,ENST00000523768,;TNPO1,3_prime_UTR_variant,,ENST00000447967,;MIR4804,upstream_gene_variant,,ENST00000581683,;TNPO1,non_coding_transcript_exon_variant,,ENST00000508762,;TNPO1,intron_variant,,ENST00000505082,;TNPO1,downstream_gene_variant,,ENST00000506528,;TNPO1,3_prime_UTR_variant,,ENST00000520850,;CTD-2339M3.1,downstream_gene_variant,,ENST00000497334,;							LOW	780/2697		TNPO1_HUMAN			Transcript			.	ENSP00000336712		CCDS43329.1			1	
NT5C2	0	LGGM	GRCh37	10	104849520	104849520	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	25	5	.	.	ENST00000343289.5:c.1595A>C	p.Lys532Thr	p.K532T	ENST00000343289	NM_012229.4	532	aAa/aCa	0	1	1	UPI0000124F44	0	NA	ENST00000343289		ENSG00000076685	8022		30	0.345		HGNC	p.K532T		NT5C2		SNV			1				ENST00000404739	protein_coding	getma.org/?cm=var&var=hg19,10,104849520,T,G&fts=all				K/T		G	neutral	1683/5263		getma.org/?cm=msa&ty=f&p=5NTC_HUMAN&rb=494&re=561&var=K532T	tolerated(0.22)				YES	NT5C2,missense_variant,p.Lys532Thr,ENST00000343289,NM_012229.4,NM_001134373.2;NT5C2,missense_variant,p.Lys532Thr,ENST00000404739,;NT5C2,missense_variant,p.Lys503Thr,ENST00000423468,;CNNM2,3_prime_UTR_variant,,ENST00000369878,NM_017649.4;NT5C2,downstream_gene_variant,,ENST00000421281,;NT5C2,non_coding_transcript_exon_variant,,ENST00000369857,;NT5C2,downstream_gene_variant,,ENST00000469228,;							MODERATE	1595/1686	K532T	5NTC_HUMAN			Transcript		benign(0.024)	.	ENSP00000339479		CCDS7544.1			1	
FREM2	0	LGGM	GRCh37	13	39262683	39262683	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	21	5	.	.	ENST00000280481.7:c.1202A>G	p.Asp401Gly	p.D401G	ENST00000280481	NM_207361.4	401	gAc/gGc	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		26	1.465		HGNC	p.D401G		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39262683,A,G&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		D/G		G	low	1418/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=401&re=600&var=D401G	tolerated(0.1)				YES	FREM2,missense_variant,p.Asp401Gly,ENST00000280481,NM_207361.4;							MODERATE	1202/9510	D401G	FREM2_HUMAN			Transcript		benign(0.021)	.	ENSP00000280481		CCDS31960.1			1	
MMP11	0	LGGM	GRCh37	22	24122675	24122675	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	12	5	.	.	ENST00000215743.3:c.468G>A	p.Met156Ile	p.M156I	ENST00000215743	NM_005940.3	156	atG/atA	0	1	1	UPI00001AE5D9	0	getma.org/pdb.php?prot=MMP11_HUMAN&from=104&to=258&var=M156I	ENST00000215743		ENSG00000099953	7157		17	0.865		HGNC	p.M140I		MMP11		SNV							ENST00000437086	protein_coding	getma.org/?cm=var&var=hg19,22,24122675,G,A&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF20,SMART_domains:SM00235,Superfamily_domains:SSF55486		M/I		A	low	520/2291		getma.org/?cm=msa&ty=f&p=MMP11_HUMAN&rb=104&re=258&var=M156I	tolerated(0.46)	F8WDI7_HUMAN			YES	MMP11,missense_variant,p.Met156Ile,ENST00000215743,NM_005940.3;AP000349.1,downstream_gene_variant,,ENST00000598975,;MMP11,non_coding_transcript_exon_variant,,ENST00000477567,;MMP11,non_coding_transcript_exon_variant,,ENST00000460352,;MMP11,non_coding_transcript_exon_variant,,ENST00000489582,;MMP11,upstream_gene_variant,,ENST00000488363,;MMP11,upstream_gene_variant,,ENST00000480185,;MMP11,missense_variant,p.Met140Ile,ENST00000437086,;MMP11,non_coding_transcript_exon_variant,,ENST00000465385,;MMP11,upstream_gene_variant,,ENST00000434318,;MMP11,upstream_gene_variant,,ENST00000492464,;MMP11,downstream_gene_variant,,ENST00000465730,;MMP11,upstream_gene_variant,,ENST00000493132,;MMP11,downstream_gene_variant,,ENST00000428253,;							MODERATE	468/1467	M156I	MMP11_HUMAN			Transcript		benign(0.019)	.	ENSP00000215743		CCDS13816.1			1	
PARD6A	0	LGGM	GRCh37	16	67695533	67695533	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	2	5	.	.	ENST00000219255.3:c.239C>T	p.Ala80Val	p.A80V	ENST00000219255		80	gCc/gTc	0	1	1	UPI000006F1C0	0	getma.org/pdb.php?prot=PAR6A_HUMAN&from=15&to=95&var=A80V	ENST00000219255		ENSG00000102981	15943		7	2.725		HGNC	p.A80V		PARD6A		SNV							ENST00000458121	protein_coding	getma.org/?cm=var&var=hg19,16,67695533,C,T&fts=all		hmmpanther:PTHR14102:SF9,hmmpanther:PTHR14102,Gene3D:3.10.20.240,Pfam_domain:PF00564,SMART_domains:SM00666,Superfamily_domains:SSF54277		A/V		T	medium	319/1248		getma.org/?cm=msa&ty=f&p=PAR6A_HUMAN&rb=15&re=95&var=A80V	deleterious(0)				YES	PARD6A,missense_variant,p.Ala80Val,ENST00000458121,NM_001037281.1,NM_016948.2;PARD6A,missense_variant,p.Ala80Val,ENST00000219255,;PARD6A,intron_variant,,ENST00000602551,;RLTPR,downstream_gene_variant,,ENST00000334583,NM_001013838.1;RLTPR,downstream_gene_variant,,ENST00000545661,;ACD,upstream_gene_variant,,ENST00000219251,NM_001082487.1,NM_022914.2,NM_001082486.1;ACD,upstream_gene_variant,,ENST00000393919,;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.1;ACD,upstream_gene_variant,,ENST00000602320,;ENKD1,downstream_gene_variant,,ENST00000602644,;ACD,upstream_gene_variant,,ENST00000602850,;ACD,upstream_gene_variant,,ENST00000602382,;ENKD1,downstream_gene_variant,,ENST00000602409,;PARD6A,non_coding_transcript_exon_variant,,ENST00000602727,;ACD,upstream_gene_variant,,ENST00000602622,;ACD,upstream_gene_variant,,ENST00000602860,;ENKD1,downstream_gene_variant,,ENST00000602942,;ACD,upstream_gene_variant,,ENST00000602519,;RLTPR,downstream_gene_variant,,ENST00000602368,;ENKD1,downstream_gene_variant,,ENST00000602531,;ACD,upstream_gene_variant,,ENST00000602945,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,upstream_gene_variant,,ENST00000602656,;RLTPR,downstream_gene_variant,,ENST00000602705,;ACD,upstream_gene_variant,,ENST00000602780,;ACD,upstream_gene_variant,,ENST00000602821,;ENKD1,downstream_gene_variant,,ENST00000602642,;ACD,upstream_gene_variant,,ENST00000602423,;							MODERATE	239/1041	A80V	PAR6A_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000219255		CCDS10843.1			1	
DENND4A	0	LGGM	GRCh37	15	65995316	65995316	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	141	5	.	.	ENST00000443035.3:c.2118T>C	p.Asn706=	p.N706=	ENST00000443035	NM_001144823.1	706	aaT/aaC	0	1		UPI000013D21C	0		ENST00000431932		ENSG00000174485	24321		146			HGNC	p.N706N		DENND4A		SNV							ENST00000431932	protein_coding			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16		N		G		2327/5875				H3BTW5_HUMAN,A8K2M7_HUMAN				DENND4A,synonymous_variant,p.=,ENST00000443035,NM_001144823.1;DENND4A,synonymous_variant,p.=,ENST00000431932,NM_005848.3;DENND4A,synonymous_variant,p.=,ENST00000564674,;DENND4A,upstream_gene_variant,,ENST00000562028,;							LOW	2118/5592		MYCPP_HUMAN			Transcript			.	ENSP00000396830		CCDS45285.1			1	
RDM1	0	LGGM	GRCh37	17	34257659	34257659	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	21	5	.	.	ENST00000293273.6:c.73G>C	p.Gly25Arg	p.G25R	ENST00000293273	NM_145654.3	25	Gga/Cga	0	1	1	UPI0000044E0F	0	NA	ENST00000293273		ENSG00000187456	19950		26	1.955		HGNC	p.G25R		RDM1		SNV							ENST00000591420	protein_coding	getma.org/?cm=var&var=hg19,17,34257659,C,G&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR31164:SF1,hmmpanther:PTHR31164,Gene3D:3.30.70.330,Superfamily_domains:SSF54928		G/R		G	medium	119/1177		getma.org/?cm=msa&ty=f&p=RDM1_HUMAN&rb=15&re=98&var=G25R	tolerated(0.05)				YES	RDM1,missense_variant,p.Gly25Arg,ENST00000293273,NM_145654.3;RDM1,missense_variant,p.Gly25Arg,ENST00000431884,NM_001163121.1;RDM1,missense_variant,p.Gly25Arg,ENST00000394528,NM_001034836.1;RDM1,missense_variant,p.Gly25Arg,ENST00000425909,NM_001163120.1;RDM1,5_prime_UTR_variant,,ENST00000394529,NM_001163130.1;RDM1,5_prime_UTR_variant,,ENST00000430160,;LYZL6,downstream_gene_variant,,ENST00000585556,;LYZL6,downstream_gene_variant,,ENST00000293274,NM_001199951.1;LYZL6,downstream_gene_variant,,ENST00000394523,NM_020426.2;RDM1,upstream_gene_variant,,ENST00000419453,NM_001163122.1;RDM1,upstream_gene_variant,,ENST00000394527,NM_001163125.1;RDM1,upstream_gene_variant,,ENST00000591402,NM_001163124.1;RDM1,missense_variant,p.Gly25Arg,ENST00000436836,;RDM1,missense_variant,p.Gly25Arg,ENST00000591420,;RDM1,missense_variant,p.Gly25Arg,ENST00000592489,;RDM1,upstream_gene_variant,,ENST00000585939,;RDM1,upstream_gene_variant,,ENST00000585884,;							MODERATE	73/855	G25R	RDM1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000293273		CCDS11301.1			1	
CDC27	0	LGGM	GRCh37	17	45258975	45258975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	10	6	.	.	ENST00000531206.1:c.56A>G	p.Tyr19Cys	p.Y19C	ENST00000531206		19	tAt/tGt	0	1		UPI000012722D	0	NA	ENST00000066544		ENSG00000004897	1728		16	2.03		HGNC	p.Y19C		CDC27		SNV							ENST00000575483	protein_coding	getma.org/?cm=var&var=hg19,17,45258975,T,C&fts=all		hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558,Pfam_domain:PF12895		Y/C		C	medium	150/5801		getma.org/?cm=msa&ty=f&p=CDC27_HUMAN&rb=17&re=95&var=Y19C	deleterious(0)	I0EZ72_HUMAN,I0EZ68_HUMAN				CDC27,missense_variant,p.Tyr19Cys,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,missense_variant,p.Tyr19Cys,ENST00000531206,;CDC27,missense_variant,p.Tyr19Cys,ENST00000527547,;CDC27,missense_variant,p.Tyr19Cys,ENST00000575483,;CDC27,synonymous_variant,p.=,ENST00000446365,;CDC27,non_coding_transcript_exon_variant,,ENST00000528748,;CDC27,non_coding_transcript_exon_variant,,ENST00000532575,;CDC27,missense_variant,p.Tyr19Cys,ENST00000533415,;CDC27,missense_variant,p.Tyr19Cys,ENST00000526866,;CDC27,missense_variant,p.Tyr19Cys,ENST00000532893,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,non_coding_transcript_exon_variant,,ENST00000528147,;CDC27,upstream_gene_variant,,ENST00000573550,;							MODERATE	56/2475	Y19C	CDC27_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000066544		CCDS11509.1			1	
TMEM106B	0	LGGM	GRCh37	7	12270019	12270019	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	29	6	.	.	ENST00000396667.3:c.587A>T	p.Asp196Val	p.D196V	ENST00000396667	NM_018374.3	196	gAt/gTt	0	1	1	UPI000003ED3C	0	NA	ENST00000396667		ENSG00000106460	22407		35	2		HGNC	p.D196V		TMEM106B		SNV							ENST00000396668	protein_coding	getma.org/?cm=var&var=hg19,7,12270019,A,T&fts=all		Pfam_domain:PF07092,Superfamily_domains:0051044		D/V		T	medium	909/12539		getma.org/?cm=msa&ty=f&p=T106B_HUMAN&rb=14&re=258&var=D196V	tolerated(0.17)	C9JZ87_HUMAN,C9J998_HUMAN			YES	TMEM106B,missense_variant,p.Asp196Val,ENST00000396667,NM_018374.3;TMEM106B,missense_variant,p.Asp196Val,ENST00000396668,NM_001134232.1;TMEM106B,3_prime_UTR_variant,,ENST00000420833,;TMEM106B,non_coding_transcript_exon_variant,,ENST00000462754,;TMEM106B,non_coding_transcript_exon_variant,,ENST00000492762,;							MODERATE	587/825	D196V	T106B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379901		CCDS5358.1			1	
PAF1	0	LGGM	GRCh37	19	39879290	39879290	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	18	6	.	.	ENST00000221265.3:c.767A>G	p.Gln256Arg	p.Q256R	ENST00000221265	NM_019088.3	256	cAg/cGg	0	1	1	UPI000006D489	0	NA	ENST00000221265		ENSG00000006712	25459		24	2.215		HGNC	p.Q203R		PAF1		SNV							ENST00000416728	protein_coding	getma.org/?cm=var&var=hg19,19,39879290,T,C&fts=all		Pfam_domain:PF03985,hmmpanther:PTHR23188		Q/R		C	medium	1098/2066		getma.org/?cm=msa&ty=f&p=PAF1_HUMAN&rb=27&re=446&var=Q256R	deleterious(0)				YES	PAF1,missense_variant,p.Gln256Arg,ENST00000221265,NM_019088.3;PAF1,missense_variant,p.Gln246Arg,ENST00000595564,NM_001256826.1;PAF1,missense_variant,p.Gln223Arg,ENST00000221266,;SAMD4B,downstream_gene_variant,,ENST00000314471,NM_018028.2;MED29,upstream_gene_variant,,ENST00000315588,NM_017592.1;SAMD4B,downstream_gene_variant,,ENST00000598913,;MED29,upstream_gene_variant,,ENST00000599213,;MED29,upstream_gene_variant,,ENST00000594368,;SAMD4B,downstream_gene_variant,,ENST00000596368,;MED29,upstream_gene_variant,,ENST00000596297,;PAF1,upstream_gene_variant,,ENST00000595379,;PAF1,missense_variant,p.Gln203Arg,ENST00000416728,;MED29,upstream_gene_variant,,ENST00000599417,;PAF1,downstream_gene_variant,,ENST00000595797,;PAF1,downstream_gene_variant,,ENST00000597365,;SAMD4B,downstream_gene_variant,,ENST00000596271,;PAF1,downstream_gene_variant,,ENST00000598127,;MED29,upstream_gene_variant,,ENST00000600973,;PAF1,downstream_gene_variant,,ENST00000598594,;							MODERATE	767/1596	Q256R	PAF1_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000221265		CCDS12533.1			1	
SYS1	0	LGGM	GRCh37	20	43995719	43995719	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	97	6	.	.	ENST00000243918.5:c.435G>T	p.Glu145Asp	p.E145D	ENST00000243918	NM_033542.3	145	gaG/gaT	0	1	1	UPI00000721D5	0	NA	ENST00000243918		ENSG00000204070	16162		103	0.905		HGNC	p.E145D		SYS1		SNV							ENST00000243918	protein_coding	getma.org/?cm=var&var=hg19,20,43995719,G,T&fts=all		hmmpanther:PTHR12952,hmmpanther:PTHR12952:SF2,Pfam_domain:PF09801,PIRSF_domain:PIRSF031402		E/D		T	low	726/2862		getma.org/?cm=msa&ty=f&p=SYS1_HUMAN&rb=5&re=148&var=E145D	tolerated(0.35)	Q5QPU8_HUMAN,E7ETM6_HUMAN			YES	SYS1,missense_variant,p.Glu145Asp,ENST00000243918,NM_033542.3;SYS1,missense_variant,p.Glu145Asp,ENST00000372727,NM_001197129.1;SYS1,missense_variant,p.Glu124Asp,ENST00000414310,;SYS1,intron_variant,,ENST00000426004,NM_001099791.2;SYS1,downstream_gene_variant,,ENST00000453003,;SYS1,non_coding_transcript_exon_variant,,ENST00000479779,;SYS1-DBNDD2,intron_variant,,ENST00000475242,;SYS1,3_prime_UTR_variant,,ENST00000457307,;SYS1-DBNDD2,intron_variant,,ENST00000419593,;SYS1-DBNDD2,intron_variant,,ENST00000452133,;SYS1-DBNDD2,intron_variant,,ENST00000458187,;SYS1,downstream_gene_variant,,ENST00000461890,;							MODERATE	435/471	E145D	SYS1_HUMAN			Transcript		benign(0.028)	.	ENSP00000243918		CCDS13351.1			1	
PAF1	0	LGGM	GRCh37	19	39879288	39879288	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	18	7	.	.	ENST00000221265.3:c.769T>A	p.Phe257Ile	p.F257I	ENST00000221265	NM_019088.3	257	Ttt/Att	0	1	1	UPI000006D489	0	NA	ENST00000221265		ENSG00000006712	25459		25	2.515		HGNC	p.F204I		PAF1		SNV							ENST00000416728	protein_coding	getma.org/?cm=var&var=hg19,19,39879288,A,T&fts=all		Pfam_domain:PF03985,hmmpanther:PTHR23188		F/I		T	medium	1100/2066		getma.org/?cm=msa&ty=f&p=PAF1_HUMAN&rb=27&re=446&var=F257I	deleterious(0)				YES	PAF1,missense_variant,p.Phe257Ile,ENST00000221265,NM_019088.3;PAF1,missense_variant,p.Phe247Ile,ENST00000595564,NM_001256826.1;PAF1,missense_variant,p.Phe224Ile,ENST00000221266,;SAMD4B,downstream_gene_variant,,ENST00000314471,NM_018028.2;MED29,upstream_gene_variant,,ENST00000315588,NM_017592.1;SAMD4B,downstream_gene_variant,,ENST00000598913,;MED29,upstream_gene_variant,,ENST00000599213,;MED29,upstream_gene_variant,,ENST00000594368,;SAMD4B,downstream_gene_variant,,ENST00000596368,;MED29,upstream_gene_variant,,ENST00000596297,;PAF1,upstream_gene_variant,,ENST00000595379,;PAF1,missense_variant,p.Phe204Ile,ENST00000416728,;MED29,upstream_gene_variant,,ENST00000599417,;PAF1,downstream_gene_variant,,ENST00000595797,;PAF1,downstream_gene_variant,,ENST00000597365,;SAMD4B,downstream_gene_variant,,ENST00000596271,;PAF1,downstream_gene_variant,,ENST00000598127,;MED29,upstream_gene_variant,,ENST00000600973,;PAF1,downstream_gene_variant,,ENST00000598594,;							MODERATE	769/1596	F257I	PAF1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000221265		CCDS12533.1			1	
ANK3	0	LGGM	GRCh37	10	61828562	61828562	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	85	7	.	.	ENST00000280772.2:c.12077C>G	p.Ser4026Cys	p.S4026C	ENST00000280772	NM_020987.3	4026	tCc/tGc	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		92	0.695		HGNC	p.S4026C		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61828562,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		S/C		C	neutral	12269/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=4015&re=4090&var=S4026C		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Ser4026Cys,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,;ANK3,upstream_gene_variant,,ENST00000514197,;ANK3,upstream_gene_variant,,ENST00000459732,;							MODERATE	12077/13134	S4026C	ANK3_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000280772		CCDS7258.1			1	
EDEM3	0	LGGM	GRCh37	1	184695489	184695489	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	58	8	.	.	ENST00000318130.8:c.647C>G	p.Ala216Gly	p.A216G	ENST00000318130	NM_025191.3	216	gCt/gGt	0	1	1	UPI0000470A2B	0	getma.org/pdb.php?prot=EDEM3_HUMAN&from=59&to=498&var=A216G	ENST00000318130		ENSG00000116406	16787		66	-0.525		HGNC	p.A173G		EDEM3		SNV							ENST00000367512	protein_coding	getma.org/?cm=var&var=hg19,1,184695489,G,C&fts=all		Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF30,Superfamily_domains:SSF48225		A/G		C	neutral	914/6898		getma.org/?cm=msa&ty=f&p=EDEM3_HUMAN&rb=59&re=498&var=A216G	tolerated(0.4)	Q7L2Y5_HUMAN,H0Y498_HUMAN			YES	EDEM3,missense_variant,p.Ala216Gly,ENST00000318130,NM_025191.3;EDEM3,missense_variant,p.Ala173Gly,ENST00000367512,;EDEM3,non_coding_transcript_exon_variant,,ENST00000474725,;							MODERATE	647/2799	A216G	EDEM3_HUMAN			Transcript		benign(0.029)	.	ENSP00000318147		CCDS1363.2			1	
VWF	0	LGGM	GRCh37	12	6204594	6204594	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	75	8	.	.	ENST00000261405.5:c.657+32T>C		*219*	ENST00000261405	NM_000552.3			0	1	1	UPI00001AE7EE	0		ENST00000261405		ENSG00000110799	12726		83			HGNC	p.M267T		VWF		SNV			1				ENST00000572068	protein_coding							G		-/8838				H2DLA2_HUMAN			YES	VWF,missense_variant,p.Met267Thr,ENST00000572068,;VWF,intron_variant,,ENST00000261405,NM_000552.3;RN7SL69P,downstream_gene_variant,,ENST00000468423,;VWF,intron_variant,,ENST00000538635,;VWF,3_prime_UTR_variant,,ENST00000321023,;							MODIFIER	-/8442		VWF_HUMAN			Transcript			.	ENSP00000261405		CCDS8539.1			1	
POSTN	0	LGGM	GRCh37	13	38171343	38171343	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	16	8	.	.	ENST00000379747.4:c.196A>T	p.Lys66Ter	p.K66*	ENST00000379747	NM_006475.2	66	Aag/Tag	0	1	1	UPI000013CEB8	0	NA	ENST00000379747		ENSG00000133110	16953		24	0		HGNC	p.K66X		POSTN		SNV							ENST00000379742	protein_coding	getma.org/?cm=var&var=hg19,13,38171343,T,A&fts=all		PIRSF_domain:PIRSF016553,PROSITE_profiles:PS51041,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12		K/*		A	NA	314/3373		NA					YES	POSTN,stop_gained,p.Lys66Ter,ENST00000379747,NM_006475.2;POSTN,stop_gained,p.Lys66Ter,ENST00000541179,NM_001135935.1,NM_001135936.1;POSTN,stop_gained,p.Lys66Ter,ENST00000379749,;POSTN,stop_gained,p.Lys66Ter,ENST00000379743,NM_001286665.1;POSTN,stop_gained,p.Lys66Ter,ENST00000379742,NM_001135934.1;POSTN,stop_gained,p.Lys66Ter,ENST00000541481,NM_001286666.1;							HIGH	196/2511	K66*	POSTN_HUMAN			Transcript			.	ENSP00000369071		CCDS9364.1			1	
KCNU1	0	LGGM	GRCh37	8	36694332	36694332	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	108	8	.	.	ENST00000399881.3:c.1387A>C	p.Ser463Arg	p.S463R	ENST00000399881	NM_001031836.2	463	Agc/Cgc	0	1	1	UPI0000F079EF	0	getma.org/pdb.php?prot=KCNU1_HUMAN&from=460&to=558&var=S463R	ENST00000399881		ENSG00000215262	18867		116	1.79		HGNC	p.S463R		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36694332,A,C&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF03493,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		S/R		C	low	1424/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=460&re=558&var=S463R	deleterious(0)				YES	KCNU1,missense_variant,p.Ser463Arg,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Ser463Arg,ENST00000522372,;							MODERATE	1387/3450	S463R	KCNU1_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000382770		CCDS55220.1			1	
MDN1	0	LGGM	GRCh37	6	90486318	90486318	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	13	9	.	.	ENST00000369393.3:c.1821+1G>T		p.X607_splice	ENST00000369393				0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		22			HGNC	-		MDN1		SNV							ENST00000369393	protein_coding							A		-/18413				M0QXR3_HUMAN			YES	MDN1,splice_donor_variant,,ENST00000369393,;MDN1,splice_donor_variant,,ENST00000428876,NM_014611.1;MDN1,splice_donor_variant,,ENST00000439638,;							HIGH	1821/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
COL6A6	0	LGGM	GRCh37	3	130361842	130361842	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	45	9	.	.	ENST00000358511.6:c.5202C>A	p.Leu1734=	p.L1734=	ENST00000358511	NM_001102608.1	1734	ctC/ctA	0	1	1	UPI00015B6548	0		ENST00000358511		ENSG00000206384	27023		54			HGNC	p.L1734L		COL6A6		SNV							ENST00000453409	protein_coding			hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992		L		A		5233/9581							YES	COL6A6,synonymous_variant,p.=,ENST00000358511,NM_001102608.1;COL6A6,synonymous_variant,p.=,ENST00000453409,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;							LOW	5202/6792		CO6A6_HUMAN			Transcript			.	ENSP00000351310		CCDS46911.1			1	
ETHE1	0	LGGM	GRCh37	19	44030432	44030432	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	8	9	.	.	ENST00000292147.2:c.296A>C	p.Gln99Pro	p.Q99P	ENST00000292147	NM_014297.3	99	cAg/cCg	0	1	1	UPI0000073C7C	0	getma.org/pdb.php?prot=ETHE1_HUMAN&from=32&to=195&var=Q99P	ENST00000292147		ENSG00000105755	23287		17	0.66		HGNC	p.Q99P		ETHE1		SNV			1				ENST00000600651	protein_coding	getma.org/?cm=var&var=hg19,19,44030432,T,G&fts=all		Superfamily_domains:SSF56281,SMART_domains:SM00849,Pfam_domain:PF00753,Gene3D:3.60.15.10,hmmpanther:PTHR11935,hmmpanther:PTHR11935:SF8		Q/P		G	neutral	363/963		getma.org/?cm=msa&ty=f&p=ETHE1_HUMAN&rb=32&re=195&var=Q99P	deleterious(0.01)	B2RCZ7_HUMAN			YES	ETHE1,missense_variant,p.Gln99Pro,ENST00000600651,;ETHE1,missense_variant,p.Gln99Pro,ENST00000292147,NM_014297.3;ZNF575,intron_variant,,ENST00000458714,;ETHE1,3_prime_UTR_variant,,ENST00000602138,;ETHE1,non_coding_transcript_exon_variant,,ENST00000595115,;ETHE1,intron_variant,,ENST00000598330,;ETHE1,intron_variant,,ENST00000594342,;							MODERATE	296/765	Q99P	ETHE1_HUMAN			Transcript		benign(0.319)	.	ENSP00000292147		CCDS12622.1			1	
SPRR2A	0	LGGM	GRCh37	1	153029071	153029071	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	52	9	.	.	ENST00000392653.2:c.141T>C	p.Pro47=	p.P47=	ENST00000392653	NM_005988.2	47	ccT/ccC	0	1	1	UPI0000135D6D	0		ENST00000392653		ENSG00000241794	11261		61			HGNC	p.P47P		SPRR2A		SNV							ENST00000392653	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF29,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR01217,Prints_domain:PR00021		P		G		227/709							YES	SPRR2A,synonymous_variant,p.=,ENST00000392653,NM_005988.2;							LOW	141/219		SPR2A_HUMAN			Transcript			.	ENSP00000376423		CCDS1034.1			1	
ZNF597	0	LGGM	GRCh37	16	3493133	3493133	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	8	9	.	.	ENST00000301744.4:c.21G>A	p.Thr7=	p.T7=	ENST00000301744	NM_152457.1	7	acG/acA	0	1	1	UPI0000070B73	0		ENST00000301744		ENSG00000167981	26573		17			HGNC	p.T7T		ZNF597		SNV							ENST00000301744	protein_coding			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF50		T		T		257/1831							YES	ZNF597,synonymous_variant,p.=,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,;							LOW	21/1275		ZN597_HUMAN			Transcript			.	ENSP00000301744		CCDS10505.1			1	
PLXNA4	0	LGGM	GRCh37	7	131829978	131829978	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	13	10	.	.	ENST00000359827.3:c.5125C>A	p.Leu1709Met	p.L1709M	ENST00000359827		1709	Ctg/Atg	0	1		UPI000004E55B	0	getma.org/pdb.php?prot=PLXA4_HUMAN&from=1310&to=1864&var=L1709M	ENST00000321063		ENSG00000221866	9102		23	2.6		HGNC	p.L1709M		PLXNA4		SNV							ENST00000359827	protein_coding	getma.org/?cm=var&var=hg19,7,131829978,G,T&fts=all		hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350		L/M		T	medium	5354/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=1310&re=1864&var=L1709M	deleterious(0)					PLXNA4,missense_variant,p.Leu1709Met,ENST00000359827,;PLXNA4,missense_variant,p.Leu1709Met,ENST00000321063,NM_020911.1;PLXNA4,non_coding_transcript_exon_variant,,ENST00000496550,;							MODERATE	5125/5685	L1709M	PLXA4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000323194		CCDS43646.1			1	
EYS	0	LGGM	GRCh37	6	65303086	65303086	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	20	10	.	.	ENST00000503581.1:c.3801G>C	p.Glu1267Asp	p.E1267D	ENST00000503581	NM_001142800.1	1267	gaG/gaC	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		30	0		HGNC	p.E1267D		EYS		SNV			1				ENST00000370621	protein_coding	getma.org/?cm=var&var=hg19,6,65303086,C,G&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		E/D		G	neutral	3801/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=1196&re=1395&var=E1267D	tolerated(0.37)					EYS,missense_variant,p.Glu1267Asp,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Glu1267Asp,ENST00000370621,;EYS,missense_variant,p.Glu1267Asp,ENST00000370616,;EYS,non_coding_transcript_exon_variant,,ENST00000330816,;							MODERATE	3801/9498	E1267D	EYS_HUMAN			Transcript		benign(0)	.	ENSP00000359650					1	
TMEM179	0	LGGM	GRCh37	14	105061571	105061571	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	2	10	.	.	ENST00000341595.3:c.453G>A	p.Glu151=	p.E151=	ENST00000341595	NM_207379	151	gaG/gaA	0	1		UPI00001AFA94	0		ENST00000556573		ENSG00000258986	20137		12			HGNC	p.E151E		TMEM179		SNV							ENST00000556573	protein_coding			hmmpanther:PTHR31872,hmmpanther:PTHR31872:SF2		E		T		695/1430								TMEM179,synonymous_variant,p.=,ENST00000341595,NM_207379;TMEM179,synonymous_variant,p.=,ENST00000556573,NM_001286389.1;TMEM179,synonymous_variant,p.=,ENST00000415614,;C14orf180,downstream_gene_variant,,ENST00000557649,;TMEM179,upstream_gene_variant,,ENST00000556320,;							LOW	453/702		T179A_HUMAN			Transcript			.	ENSP00000450958		CCDS66723.1			1	
BCL6	0	LGGM	GRCh37	3	187449593	187449593	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	34	11	.	.	ENST00000232014.4:c.287A>G	p.Asn96Ser	p.N96S	ENST00000232014	NM_001130845.1	96	aAt/aGt	0	1		UPI000012682C	0	getma.org/pdb.php?prot=BCL6_HUMAN&from=22&to=129&var=N96S	ENST00000232014		ENSG00000113916	1001		45	0.46		HGNC	p.N96S		BCL6		SNV			1				ENST00000438077	protein_coding	getma.org/?cm=var&var=hg19,3,187449593,T,C&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF88,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		N/S		C	neutral	816/2710		getma.org/?cm=msa&ty=f&p=BCL6_HUMAN&rb=22&re=129&var=N96S	tolerated(0.52)	C9JL16_HUMAN,C9JCS5_HUMAN				BCL6,missense_variant,p.Asn96Ser,ENST00000406870,NM_001706.4;BCL6,missense_variant,p.Asn96Ser,ENST00000232014,NM_001130845.1;BCL6,missense_variant,p.Asn96Ser,ENST00000450123,NM_001134738.1;BCL6,missense_variant,p.Asn96Ser,ENST00000438077,;BCL6,missense_variant,p.Asn96Ser,ENST00000430339,;RP11-211G3.3,intron_variant,,ENST00000449623,;RP11-211G3.3,intron_variant,,ENST00000437407,;BCL6,non_coding_transcript_exon_variant,,ENST00000480458,;BCL6,downstream_gene_variant,,ENST00000496823,;BCL6,3_prime_UTR_variant,,ENST00000419510,;BCL6,downstream_gene_variant,,ENST00000470319,;							MODERATE	287/2121	N96S	BCL6_HUMAN			Transcript		benign(0.113)	.	ENSP00000232014		CCDS3289.1			1	
P2RY4	0	LGGM	GRCh37	X	69478967	69478967	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	0	11	.	.	ENST00000374519.2:c.508A>T	p.Asn170Tyr	p.N170Y	ENST00000374519	NM_002565.3	170	Aac/Tac	0	1	1	UPI000002E776	0	getma.org/pdb.php?prot=P2RY4_HUMAN&from=52&to=306&var=N170Y	ENST00000374519		ENSG00000186912	8542		11	1.04		HGNC	p.N170Y		P2RY4		SNV							ENST00000374519	protein_coding	getma.org/?cm=var&var=hg19,X,69478967,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF21,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		N/Y		A	low	688/1639		getma.org/?cm=msa&ty=f&p=P2RY4_HUMAN&rb=52&re=306&var=N170Y	tolerated(0.38)	C6G7W3_HUMAN			YES	P2RY4,missense_variant,p.Asn170Tyr,ENST00000374519,NM_002565.3;							MODERATE	508/1098	N170Y	P2RY4_HUMAN			Transcript		benign(0.021)	.	ENSP00000363643		CCDS14398.1			1	
CCDC110	0	LGGM	GRCh37	4	186379587	186379587	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	1	11	.	.	ENST00000307588.3:c.2154A>T	p.Leu718=	p.L718=	ENST00000307588	NM_152775.3	718	ctA/ctT	0	1	1	UPI0000070BFC	0		ENST00000307588		ENSG00000168491	28504		12			HGNC	p.L718L		CCDC110		SNV							ENST00000307588	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32083,hmmpanther:PTHR32083:SF25		L		A		2230/2898							YES	CCDC110,synonymous_variant,p.=,ENST00000307588,NM_152775.3;CCDC110,synonymous_variant,p.=,ENST00000393540,NM_001145411.1;CCDC110,synonymous_variant,p.=,ENST00000510617,;CCDC110,downstream_gene_variant,,ENST00000506876,;CCDC110,downstream_gene_variant,,ENST00000507501,;CCDC110,downstream_gene_variant,,ENST00000506962,;CCDC110,downstream_gene_variant,,ENST00000510481,;CCDC110,downstream_gene_variant,,ENST00000504020,;CCDC110,upstream_gene_variant,,ENST00000508538,;							LOW	2154/2502		CC110_HUMAN			Transcript			.	ENSP00000306776		CCDS3843.1			1	
DAPK1	0	LGGM	GRCh37	9	90254376	90254376	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	32	11	.	.	ENST00000408954.3:c.531A>G	p.Ile177Met	p.I177M	ENST00000408954	NM_004938.2	177	atA/atG	0	1		UPI0000210C2F	0	getma.org/pdb.php?prot=DAPK1_HUMAN&from=13&to=275&var=I177M	ENST00000358077		ENSG00000196730	2674		43	-0.09		HGNC	p.I177M		DAPK1		SNV							ENST00000489291	protein_coding	getma.org/?cm=var&var=hg19,9,90254376,A,G&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF54,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/M		G	neutral	714/5743		getma.org/?cm=msa&ty=f&p=DAPK1_HUMAN&rb=13&re=275&var=I177M	tolerated(0.69)					DAPK1,missense_variant,p.Ile177Met,ENST00000469640,;DAPK1,missense_variant,p.Ile177Met,ENST00000408954,NM_004938.2;DAPK1,missense_variant,p.Ile177Met,ENST00000472284,NM_001288729.1,NM_001288730.1;DAPK1,missense_variant,p.Ile177Met,ENST00000358077,NM_001288731.1;DAPK1,missense_variant,p.Ile177Met,ENST00000491893,;DAPK1,non_coding_transcript_exon_variant,,ENST00000472344,;DAPK1,downstream_gene_variant,,ENST00000496522,;DAPK1,missense_variant,p.Ile177Met,ENST00000489291,;DAPK1,non_coding_transcript_exon_variant,,ENST00000469067,;DAPK1,non_coding_transcript_exon_variant,,ENST00000463069,;							MODERATE	531/4293	I177M	DAPK1_HUMAN			Transcript		benign(0.022)	.	ENSP00000350785		CCDS43842.1			1	
UTRN	0	LGGM	GRCh37	6	144760028	144760028	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	18	11	.	.	ENST00000367545.3:c.1389del	p.His463GlnfsTer13	p.H463Qfs*13	ENST00000367545	NM_007124.2	463	caT/ca	0	1	1	UPI00003673F1	0		ENST00000367545		ENSG00000152818	12635		29			HGNC	p.H463fs		UTRN		deletion							ENST00000367545	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		H/X		-		1389/12339				Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,frameshift_variant,p.His463GlnfsTer13,ENST00000367545,NM_007124.2;							HIGH	1389/10302		UTRO_HUMAN			Transcript			.	ENSP00000356515		CCDS34547.1			1	
ADAMTS12	0	LGGM	GRCh37	5	33577214	33577214	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	87	11	.	.	ENST00000504830.1:c.2917A>G	p.Lys973Glu	p.K973E	ENST00000504830	NM_030955.2	973	Aag/Gag	0	1	1	UPI000013DC51	0	NA	ENST00000504830		ENSG00000151388	14605		98	0.19		HGNC	p.K973E		ADAMTS12		SNV							ENST00000504830	protein_coding	getma.org/?cm=var&var=hg19,5,33577214,T,C&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		K/E		C	neutral	3253/8774		getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=946&re=1000&var=K973E	tolerated(0.11)				YES	ADAMTS12,missense_variant,p.Lys973Glu,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Lys888Glu,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;							MODERATE	2917/4785	K973E	ATS12_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000422554		CCDS34140.1			1	
IL6ST	0	LGGM	GRCh37	5	55260059	55260070	+	inframe_deletion	In_Frame_Del	DEL	AAAATACACAGT	AAAATACACAGT	-	novel	by Submitter	H060690	H060690N.bam	AAAATACACAGT	AAAATACACAGT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	23	11	.	.	ENST00000381298.2:c.562_573del	p.Thr188_Phe191del	p.T188_F191del	ENST00000381298	NM_175767.2	188	ACTGTGTATTTT/-	0	1		UPI000013CF29	0		ENST00000336909		ENSG00000134352	6021		34			HGNC	p.188_191del		IL6ST		deletion							ENST00000503773	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF09240,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF25,SMART_domains:SM00060,Superfamily_domains:SSF49265		TVYF/-		-		598-609/8750								IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000381298,NM_175767.2,NM_002184.3,NM_001190981.1;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000336909,;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000381287,;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000502326,;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000381294,;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000536319,;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000522633,;IL6ST,inframe_deletion,p.Leu46_Leu49del,ENST00000396816,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Thr188_Phe191del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;							MODERATE	562-573/2757		IL6RB_HUMAN			Transcript			.	ENSP00000338799		CCDS3971.1			1	
SHCBP1L	0	LGGM	GRCh37	1	182869339	182869339	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	12	12	.	.	ENST00000367547.3:c.1741A>C	p.Asn581His	p.N581H	ENST00000367547	NM_030933.2	581	Aat/Cat	0	1	1	UPI000006F7B9	0	NA	ENST00000367547		ENSG00000157060	16788		24	1.495		HGNC	p.N462H		SHCBP1L		SNV							ENST00000423786	protein_coding	getma.org/?cm=var&var=hg19,1,182869339,T,G&fts=all		Gene3D:2.160.20.10,Pfam_domain:PF13229,hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF7,SMART_domains:SM00710,Superfamily_domains:SSF51126		N/H		G	low	1978/2317		getma.org/?cm=msa&ty=f&p=SHP1L_HUMAN&rb=534&re=725&var=N653H	deleterious(0.01)				YES	SHCBP1L,missense_variant,p.Asn581His,ENST00000367547,NM_030933.2;SHCBP1L,missense_variant,p.Asn462His,ENST00000423786,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000488956,;SHCBP1L,non_coding_transcript_exon_variant,,ENST00000483655,;							MODERATE	1741/1962	N653H	SHP1L_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000356518		CCDS30955.1			1	
NFIB	0	LGGM	GRCh37	9	14307464	14307464	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	6	12	.	.	ENST00000380953.1:c.86A>G	p.Tyr29Cys	p.Y29C	ENST00000380953	NM_001190737.1	29	tAt/tGt	0	1		UPI0000071C33	0	NA	ENST00000380959		ENSG00000147862	7785		18	2.215		HGNC	p.Y29C		NFIB		SNV							ENST00000397579	protein_coding	getma.org/?cm=var&var=hg19,9,14307464,T,C&fts=all		PROSITE_profiles:PS51080,hmmpanther:PTHR11492,Pfam_domain:PF10524		Y/C		C	medium	560/8198		getma.org/?cm=msa&ty=f&p=NFIB_HUMAN&rb=4&re=47&var=Y29C	deleterious(0)	Q5VW31_HUMAN,Q5VW28_HUMAN				NFIB,missense_variant,p.Tyr29Cys,ENST00000380959,NM_005596.3;NFIB,missense_variant,p.Tyr55Cys,ENST00000380934,NM_001190738.1;NFIB,missense_variant,p.Tyr29Cys,ENST00000397581,;NFIB,missense_variant,p.Tyr29Cys,ENST00000397579,;NFIB,missense_variant,p.Tyr29Cys,ENST00000397575,;NFIB,missense_variant,p.Tyr29Cys,ENST00000380953,NM_001190737.1;NFIB,missense_variant,p.Tyr29Cys,ENST00000380921,;NFIB,missense_variant,p.Tyr24Cys,ENST00000493697,;NFIB,missense_variant,p.Tyr25Cys,ENST00000606230,;							MODERATE	86/1263	Y29C	NFIB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370346		CCDS6474.1			1	
OPA3	0	LGGM	GRCh37	19	46087914	46087914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	13	12	.	.	ENST00000323060.3:c.109T>C	p.Phe37Leu	p.F37L	ENST00000323060	NM_001017989.2	37	Ttc/Ctc	0	1		UPI0000130D53	0	NA	ENST00000263275		ENSG00000125741	8142		25	2.705		HGNC	p.F37L		OPA3		SNV			1				ENST00000323060	protein_coding	getma.org/?cm=var&var=hg19,19,46087914,A,G&fts=all		hmmpanther:PTHR12499:SF0,hmmpanther:PTHR12499,Pfam_domain:PF07047		F/L		G	medium	164/7828		getma.org/?cm=msa&ty=f&p=OPA3_HUMAN&rb=7&re=139&var=F37L	tolerated(0.08)	B4DK77_HUMAN				OPA3,missense_variant,p.Phe37Leu,ENST00000263275,NM_025136.3;OPA3,missense_variant,p.Phe37Leu,ENST00000323060,NM_001017989.2;OPA3,intron_variant,,ENST00000544371,;							MODERATE	109/540	F37L	OPA3_HUMAN			Transcript		benign(0.253)	.	ENSP00000263275		CCDS12668.1			1	
KIF20B	0	LGGM	GRCh37	10	91522514	91522514	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	17	12	.	.	ENST00000260753.4:c.4791G>T	p.Val1597=	p.V1597=	ENST00000260753	NM_016195.2	1597	gtG/gtT	0	1		UPI000013D104	0		ENST00000371728		ENSG00000138182	7212		29			HGNC	p.V1667V		KIF20B		SNV							ENST00000416354	protein_coding			hmmpanther:PTHR23165		V		T		4976/6419								KIF20B,synonymous_variant,p.=,ENST00000416354,;KIF20B,synonymous_variant,p.=,ENST00000371728,NM_001284259.1;KIF20B,synonymous_variant,p.=,ENST00000260753,NM_016195.2;KIF20B,synonymous_variant,p.=,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;							LOW	4911/5463		KI20B_HUMAN			Transcript			.	ENSP00000360793		CCDS60590.1			1	
CCNE2	0	LGGM	GRCh37	8	95893930	95893930	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	129	12	.	.	ENST00000520509.1:c.1145T>G	p.Leu382Trp	p.L382W	ENST00000520509		382	tTg/tGg	0	1		UPI00001275CF	0	NA	ENST00000308108		ENSG00000175305	1590		141	1.87		HGNC	p.L382W		CCNE2		SNV							ENST00000308108	protein_coding	getma.org/?cm=var&var=hg19,8,95893930,A,C&fts=all		hmmpanther:PTHR10177:SF70,hmmpanther:PTHR10177		L/W		C	low	1251/2726		getma.org/?cm=msa&ty=f&p=CCNE2_HUMAN&rb=364&re=404&var=L382W	deleterious(0.03)					CCNE2,missense_variant,p.Leu382Trp,ENST00000520509,;CCNE2,missense_variant,p.Leu382Trp,ENST00000308108,NM_057749.2;INTS8,3_prime_UTR_variant,,ENST00000523731,NM_017864.3;CCNE2,3_prime_UTR_variant,,ENST00000396133,;INTS8,downstream_gene_variant,,ENST00000447247,;INTS8,downstream_gene_variant,,ENST00000520526,;CCNE2,downstream_gene_variant,,ENST00000524224,;RP11-347C18.5,upstream_gene_variant,,ENST00000605911,;CCNE2,downstream_gene_variant,,ENST00000523476,;INTS8,downstream_gene_variant,,ENST00000343161,;INTS8,downstream_gene_variant,,ENST00000523206,;INTS8,downstream_gene_variant,,ENST00000524333,;CCNE2,downstream_gene_variant,,ENST00000521809,;							MODERATE	1145/1215	L382W	CCNE2_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000309181		CCDS6264.1			1	
REXO4	0	LGGM	GRCh37	9	136277947	136277947	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	9	12	.	.	ENST00000371942.3:c.667A>T	p.Ser223Cys	p.S223C	ENST00000371942	NM_001279350.1	223	Agc/Tgc	0	1	1	UPI00000373DC	0	NA	ENST00000371942		ENSG00000148300	12820		21	1.87		HGNC	p.S208C		REXO4		SNV							ENST00000453165	protein_coding	getma.org/?cm=var&var=hg19,9,136277947,T,A&fts=all		hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF49		S/C		A	low	867/2360		getma.org/?cm=msa&ty=f&p=REXO4_HUMAN&rb=105&re=243&var=S223C	deleterious(0.02)	B4E331_HUMAN,B4DJ95_HUMAN			YES	REXO4,missense_variant,p.Ser223Cys,ENST00000371942,NM_001279350.1,NM_020385.3;REXO4,missense_variant,p.Ser130Cys,ENST00000445916,;REXO4,intron_variant,,ENST00000371935,NM_001279349.1;REXO4,intron_variant,,ENST00000454825,;REXO4,non_coding_transcript_exon_variant,,ENST00000478037,;REXO4,non_coding_transcript_exon_variant,,ENST00000494045,;ADAMTS13,upstream_gene_variant,,ENST00000485925,;							MODERATE	667/1269	S223C	REXO4_HUMAN			Transcript		possibly_damaging(0.662)	.	ENSP00000361010		CCDS6969.1			1	
CDH12	0	LGGM	GRCh37	5	21802303	21802303	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	13	12	.	.	ENST00000382254.1:c.1229A>T	p.Asp410Val	p.D410V	ENST00000382254	NM_004061.3	410	gAc/gTc	0	1	1	UPI00000622EB	0	getma.org/pdb.php?prot=CAD12_HUMAN&from=389&to=480&var=D410V	ENST00000382254		ENSG00000154162	1751		25	3.885		HGNC	p.D370V		CDH12		SNV							ENST00000522262	protein_coding	getma.org/?cm=var&var=hg19,5,21802303,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/V		A	high	2316/4164		getma.org/?cm=msa&ty=f&p=CAD12_HUMAN&rb=389&re=480&var=D410V	deleterious(0.02)	B3KRT0_HUMAN			YES	CDH12,missense_variant,p.Asp410Val,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Asp410Val,ENST00000504376,;CDH12,missense_variant,p.Asp370Val,ENST00000522262,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;							MODERATE	1229/2385	D410V	CAD12_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000371689		CCDS3890.1			1	
SETX	0	LGGM	GRCh37	9	135202247	135202247	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	38	12	.	.	ENST00000224140.5:c.4738C>A	p.Arg1580Ser	p.R1580S	ENST00000224140	NM_015046.5	1580	Cgt/Agt	0	1	1	UPI0000210D28	0	NA	ENST00000224140		ENSG00000107290	445		50	1.95		HGNC	p.R1580S		SETX		SNV			1				ENST00000393220	protein_coding	getma.org/?cm=var&var=hg19,9,135202247,G,T&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336		R/S		T	medium	4921/11100		getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=1422&re=1621&var=R1580S	tolerated(0.08)				YES	SETX,missense_variant,p.Arg1580Ser,ENST00000372169,;SETX,missense_variant,p.Arg1580Ser,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Arg1580Ser,ENST00000393220,;							MODERATE	4738/8034	R1580S	SETX_HUMAN			Transcript		benign(0.406)	.	ENSP00000224140		CCDS6947.1			1	
PARM1	0	LGGM	GRCh37	4	75938290	75938290	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	56	13	.	.	ENST00000307428.7:c.699C>G	p.Leu233=	p.L233=	ENST00000307428	NM_015393.3	233	ctC/ctG	0	1	1	UPI000004457B	0		ENST00000307428		ENSG00000169116	24536		69			HGNC	p.L233L		PARM1		SNV							ENST00000307428	protein_coding					L		G		911/5011							YES	PARM1,synonymous_variant,p.=,ENST00000307428,NM_015393.3;PARM1,intron_variant,,ENST00000513238,;RP11-44F21.2,intron_variant,,ENST00000513770,;							LOW	699/933		PARM1_HUMAN			Transcript			.	ENSP00000370224		CCDS47077.1			1	
TOPBP1	0	LGGM	GRCh37	3	133342186	133342186	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	68	13	.	.	ENST00000260810.5:c.3044T>C	p.Leu1015Pro	p.L1015P	ENST00000260810	NM_007027.3	1015	cTc/cCc	0	1	1	UPI000020A292	0	NA	ENST00000260810		ENSG00000163781	17008		81	-0.35		HGNC	p.L1015P		TOPBP1		SNV							ENST00000260810	protein_coding	getma.org/?cm=var&var=hg19,3,133342186,A,G&fts=all		hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561		L/P		G	neutral	3176/5378		getma.org/?cm=msa&ty=f&p=TOPB1_HUMAN&rb=979&re=1178&var=L1015P	tolerated(0.34)	A0AV47_HUMAN			YES	TOPBP1,missense_variant,p.Leu1015Pro,ENST00000260810,NM_007027.3;TOPBP1,non_coding_transcript_exon_variant,,ENST00000513818,;TOPBP1,downstream_gene_variant,,ENST00000506779,;							MODERATE	3044/4569	L1015P	TOPB1_HUMAN			Transcript		benign(0.001)	.	ENSP00000260810		CCDS46919.1			1	
TRIM66	0	LGGM	GRCh37	11	8646014	8646014	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	14	13	.	.	ENST00000402157.2:c.2470G>A	p.Ala824Thr	p.A824T	ENST00000402157		824	Gcc/Acc	0	1		UPI0001837E9D	0		ENST00000299550		ENSG00000166436	29005		27			HGNC	p.A824T		TRIM66		SNV							ENST00000402157	protein_coding							T		-/9753								TRIM66,missense_variant,p.Ala824Thr,ENST00000402157,;TRIM66,intron_variant,,ENST00000299550,NM_014818.1;TRIM66,upstream_gene_variant,,ENST00000530502,;TRIM66,non_coding_transcript_exon_variant,,ENST00000481014,;TRIM66,upstream_gene_variant,,ENST00000525788,;							MODIFIER	-/3651		TRI66_HUMAN			Transcript			.	ENSP00000299550					1	
AVP	0	LGGM	GRCh37	20	3065306	3065306	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	25	14	.	.	ENST00000380293.3:c.15G>A	p.Met5Ile	p.M5I	ENST00000380293	NM_000490.4	5	atG/atA	0	1	1	UPI000012FF67	0	NA	ENST00000380293		ENSG00000101200	894		39	0.55		HGNC	p.M5I		AVP		SNV			1				ENST00000380293	protein_coding	getma.org/?cm=var&var=hg19,20,3065306,C,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,PIRSF_domain:PIRSF001815,hmmpanther:PTHR11681,hmmpanther:PTHR11681:SF2		M/I		T	neutral	65/619		getma.org/?cm=msa&ty=f&p=NEU2_HUMAN&rb=1&re=49&var=M5I	tolerated(0.53)	S6BQ34_HUMAN,Q9UEW6_HUMAN			YES	AVP,missense_variant,p.Met5Ile,ENST00000380293,NM_000490.4;							MODERATE	15/495	M5I	NEU2_HUMAN			Transcript		benign(0.006)	.	ENSP00000369647		CCDS13045.1			1	
BLTP1	0	LGGM	GRCh37	4	123184741	123184741	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	2	14	.	.	ENST00000264501.4:c.7127A>G	p.Asn2376Ser	p.N2376S	ENST00000264501		2376	aAt/aGt	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		16	0.55		HGNC	p.N2376S	rs368805442	KIAA1109		SNV	G:0.0003			0.000103			ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123184741,A,G&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		N/S	G:0	G	neutral	7500/15896	4.56E-05	getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=2289&re=2488&var=N2376S		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Asn2376Ser,ENST00000264501,;KIAA1109,missense_variant,p.Asn2376Ser,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Asn2376Ser,ENST00000455637,;KIAA1109,missense_variant,p.Asn334Ser,ENST00000419325,;KIAA1109,missense_variant,p.Asn949Ser,ENST00000446180,;							MODERATE	7127/15018	N2376S	K1109_HUMAN			Transcript		possibly_damaging(0.817)	.	ENSP00000264501	3.31E-05	CCDS43267.1			1	
OBSCN	0	LGGM	GRCh37	1	228563786	228563786	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	33	14	.	.	ENST00000570156.2:c.25735T>A	p.Tyr8579Asn	p.Y8579N	ENST00000570156	NM_001271223.2	8579	Tac/Aac	0	1		UPI0001838884	0	NA	ENST00000422127		ENSG00000154358	15719		47	2.445		HGNC	p.Y8334N		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228563786,T,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		Y/N		A	medium	22908/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=7557&re=7644&var=Y7622N						OBSCN,missense_variant,p.Tyr8579Asn,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Tyr5256Asn,ENST00000366707,;OBSCN,missense_variant,p.Tyr7622Asn,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Tyr2239Asn,ENST00000441106,;							MODERATE	22864/23907	Y7622N	OBSCN_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000409493		CCDS58065.1			1	
NOL4	0	LGGM	GRCh37	18	31537368	31537368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	15	15	.	.	ENST00000261592.5:c.1350G>T	p.Glu450Asp	p.E450D	ENST00000261592	NM_001198546.1	450	gaG/gaT	0	1	1	UPI000059D504	0	NA	ENST00000261592		ENSG00000101746	7870		30	2.14		HGNC	p.E165D		NOL4		SNV							ENST00000535384	protein_coding	getma.org/?cm=var&var=hg19,18,31537368,C,A&fts=all		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8		E/D		A	medium	1648/3957		getma.org/?cm=msa&ty=f&p=NOL4_HUMAN&rb=1&re=636&var=E450D	deleterious(0)				YES	NOL4,missense_variant,p.Glu450Asp,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,missense_variant,p.Glu376Asp,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Glu165Asp,ENST00000535384,NM_001198549.1;NOL4,intron_variant,,ENST00000269185,NM_001198548.1;NOL4,intron_variant,,ENST00000589544,;NOL4,intron_variant,,ENST00000535475,;NOL4,intron_variant,,ENST00000590712,;NOL4,intron_variant,,ENST00000586553,;NOL4,intron_variant,,ENST00000586314,;							MODERATE	1350/1917	E450D	NOL4_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000261592		CCDS11907.2			1	
NCOA7	0	LGGM	GRCh37	6	126211894	126211894	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	23	15	.	.	ENST00000368357.3:c.2034G>T	p.Met678Ile	p.M678I	ENST00000368357	NM_001199619.1	678	atG/atT	0	1	1	UPI00001AE66D	0	NA	ENST00000368357		ENSG00000111912	21081		38	0.69		HGNC	p.M678I		NCOA7		SNV							ENST00000392477	protein_coding	getma.org/?cm=var&var=hg19,6,126211894,G,T&fts=all		hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354		M/I		T	neutral	2386/5521		getma.org/?cm=msa&ty=f&p=NCOA7_HUMAN&rb=640&re=805&var=M678I	tolerated(0.59)	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN			YES	NCOA7,missense_variant,p.Met678Ile,ENST00000368357,NM_001199619.1,NM_001199620.1;NCOA7,missense_variant,p.Met678Ile,ENST00000392477,NM_001122842.2,NM_181782.4;NCOA7,missense_variant,p.Met563Ile,ENST00000229634,NM_001199621.1;NCOA7,downstream_gene_variant,,ENST00000413085,;							MODERATE	2034/2829	M678I	NCOA7_HUMAN			Transcript		benign(0.003)	.	ENSP00000357341		CCDS5132.1			1	
SLCO6A1	0	LGGM	GRCh37	5	101774434	101774434	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	23	16	.	.	ENST00000506729.1:c.1163T>C	p.Leu388Pro	p.L388P	ENST00000506729		388	cTa/cCa	0	1		UPI000020C392	0	NA	ENST00000379807		ENSG00000205359	23613		39	2.91		HGNC	p.L326P		SLCO6A1		SNV							ENST00000389019	protein_coding	getma.org/?cm=var&var=hg19,5,101774434,A,G&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805		L/P		G	medium	1298/2437		getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=105&re=666&var=L388P	deleterious(0.03)	H0Y8R6_HUMAN,D3DSZ4_HUMAN				SLCO6A1,missense_variant,p.Leu388Pro,ENST00000506729,;SLCO6A1,missense_variant,p.Leu388Pro,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.Leu326Pro,ENST00000389019,;SLCO6A1,intron_variant,,ENST00000379810,;SLCO6A1,intron_variant,,ENST00000513675,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000514551,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505739,;							MODERATE	1163/2160	L388P	SO6A1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000369135		CCDS34206.1			1	
WDR72	0	LGGM	GRCh37	15	53907987	53907987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	144	16	.	.	ENST00000396328.1:c.2416G>A	p.Gly806Arg	p.G806R	ENST00000396328	NM_182758.3	806	Gga/Aga	0	1		UPI00001D777D	0	NA	ENST00000360509		ENSG00000166415	26790		160	2.365		HGNC	p.G806R		WDR72		SNV			1				ENST00000360509	protein_coding	getma.org/?cm=var&var=hg19,15,53907987,C,T&fts=all		hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18		G/R		T	medium	2458/5887		getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=786&re=860&var=G806R	deleterious(0)	H0YN02_HUMAN				WDR72,missense_variant,p.Gly806Arg,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Gly803Arg,ENST00000557913,;WDR72,missense_variant,p.Gly806Arg,ENST00000360509,;WDR72,missense_variant,p.Gly816Arg,ENST00000559418,;WDR72,downstream_gene_variant,,ENST00000560036,;							MODERATE	2416/3309	G806R	WDR72_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000353699		CCDS10151.1			1	
ZNF318	0	LGGM	GRCh37	6	43325163	43325163	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	24	17	.	.	ENST00000361428.2:c.889C>G	p.Arg297Gly	p.R297G	ENST00000361428	NM_014345.2	297	Cgc/Ggc	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578	0.000259	41	0.805		HGNC	p.R297G	rs137929235	ZNF318		SNV	A:0.0002						ENST00000318149	protein_coding	getma.org/?cm=var&var=hg19,6,43325163,G,C&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		R/G	A:0	C	low	967/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1&re=1049&var=R297G					YES	ZNF318,missense_variant,p.Arg297Gly,ENST00000361428,NM_014345.2;ZNF318,missense_variant,p.Arg297Gly,ENST00000318149,;ZNF318,missense_variant,p.Arg297Gly,ENST00000605935,;							MODERATE	889/6840	R297G	ZN318_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000354964	2.47E-05	CCDS4895.2			1	
OXSM	0	LGGM	GRCh37	3	25835709	25835709	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	10	18	.	.	ENST00000280701.3:c.1104A>C	p.Lys368Asn	p.K368N	ENST00000280701	NM_017897.2	368	aaA/aaC	0	1	1	UPI000004713F	0	getma.org/pdb.php?prot=OXSM_HUMAN&from=299&to=414&var=K368N	ENST00000280701		ENSG00000151093	26063		28	1.015		HGNC	p.K285N		OXSM		SNV							ENST00000420173	protein_coding	getma.org/?cm=var&var=hg19,3,25835709,A,C&fts=all		hmmpanther:PTHR11712,TIGRFAM_domain:TIGR03150,Pfam_domain:PF02801,Gene3D:3.40.47.10,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901		K/N		C	low	1203/1519		getma.org/?cm=msa&ty=f&p=OXSM_HUMAN&rb=299&re=414&var=K368N	tolerated(0.05)	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN			YES	OXSM,missense_variant,p.Lys368Asn,ENST00000280701,NM_017897.2;OXSM,missense_variant,p.Lys285Asn,ENST00000420173,NM_001145391.1;NGLY1,upstream_gene_variant,,ENST00000417874,NM_001145294.1;OXSM,downstream_gene_variant,,ENST00000452098,;OXSM,downstream_gene_variant,,ENST00000428266,;OXSM,downstream_gene_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,3_prime_UTR_variant,,ENST00000448177,;							MODERATE	1104/1380	K368N	OXSM_HUMAN			Transcript		benign(0.003)	.	ENSP00000280701		CCDS2643.1			1	
C5orf42	0	LGGM	GRCh37	5	37169607	37169607	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	17	20	.	.	ENST00000425232.2:c.6519A>C	p.Lys2173Asn	p.K2173N	ENST00000425232	NM_023073.3	2173	aaA/aaC	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		37	0		HGNC	p.K1053N		C5orf42		SNV			1				ENST00000274258	protein_coding	getma.org/?cm=var&var=hg19,5,37169607,T,G&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		K/N		G	neutral	6750/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=691&re=1730&var=K1053N	tolerated(0.16)				YES	C5orf42,missense_variant,p.Lys1053Asn,ENST00000274258,;C5orf42,missense_variant,p.Lys2173Asn,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Lys2173Asn,ENST00000508244,;C5orf42,missense_variant,p.Lys1221Asn,ENST00000514429,;C5orf42,upstream_gene_variant,,ENST00000511824,;C5orf42,missense_variant,p.Lys1177Asn,ENST00000509849,;C5orf42,downstream_gene_variant,,ENST00000511781,;							MODERATE	6519/9594	K1053N	CE042_HUMAN			Transcript		benign(0.003)	.	ENSP00000389014		CCDS34146.2			1	
MYO19	0	LGGM	GRCh37	17	34883431	34883431	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	25	20	.	.	ENST00000431794.3:c.251T>C	p.Leu84Pro	p.L84P	ENST00000431794	NM_001163735.1	84	cTc/cCc	0	1	1	UPI000173AA19	0	getma.org/pdb.php?prot=MYO19_HUMAN&from=37&to=685&var=L84P	ENST00000431794		ENSG00000141140	26234		45	3.635		HGNC	p.L84P		MYO19		SNV							ENST00000586908	protein_coding	getma.org/?cm=var&var=hg19,17,34883431,A,G&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF289,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193		L/P		G	high	774/4054		getma.org/?cm=msa&ty=f&p=MYO19_HUMAN&rb=37&re=685&var=L84P	deleterious(0)	K7EQ57_HUMAN,K7EP95_HUMAN,K7EMZ0_HUMAN,K7EJW5_HUMAN			YES	MYO19,missense_variant,p.Leu84Pro,ENST00000431794,NM_001163735.1;MYO19,missense_variant,p.Leu84Pro,ENST00000268852,NM_025109.5;MYO19,missense_variant,p.Leu84Pro,ENST00000586007,NM_001033580.2;MYO19,missense_variant,p.Leu84Pro,ENST00000585719,;MYO19,missense_variant,p.Leu84Pro,ENST00000589404,;MYO19,intron_variant,,ENST00000544606,;MYO19,downstream_gene_variant,,ENST00000586886,;MYO19,downstream_gene_variant,,ENST00000585818,;MYO19,missense_variant,p.Leu84Pro,ENST00000586908,;MYO19,missense_variant,p.Leu84Pro,ENST00000591794,;							MODERATE	251/2913	L84P	MYO19_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000409936		CCDS54112.1			1	
RB1	0	LGGM	GRCh37	13	49037880	49037880	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	5	20	.	.	ENST00000267163.4:c.2121del	p.Met708CysfsTer7	p.M708Cfs*7	ENST00000267163	NM_000321.2	707	tCc/tc	0	1	1	UPI0000001C79	0		ENST00000267163		ENSG00000139687	9884		25			HGNC	p.S707fs		RB1		deletion			1				ENST00000267163	protein_coding			hmmpanther:PTHR13742,Pfam_domain:PF01857,Gene3D:1.10.472.10,SMART_domains:SM00385,Superfamily_domains:SSF47954		S/X		-		2258/4840				Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,frameshift_variant,p.Met708CysfsTer7,ENST00000267163,NM_000321.2;							HIGH	2120/2787		RB_HUMAN			Transcript	1		.	ENSP00000267163		CCDS31973.1			1	
OR8B12	0	LGGM	GRCh37	11	124413429	124413429	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	5	21	.	.	ENST00000306842.2:c.122A>G	p.Asn41Ser	p.N41S	ENST00000306842	NM_001005195.1	41	aAc/aGc	0	1	1	UPI0000041E25	0	getma.org/pdb.php?prot=OR8BC_HUMAN&from=1&to=137&var=N41S	ENST00000306842		ENSG00000170953	15307		26	3.365		HGNC	p.N41S		OR8B12		SNV							ENST00000306842	protein_coding	getma.org/?cm=var&var=hg19,11,124413429,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF267,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		N/S		C	medium	147/998		getma.org/?cm=msa&ty=f&p=OR8BC_HUMAN&rb=1&re=137&var=N41S	deleterious_low_confidence(0)				YES	OR8B12,missense_variant,p.Asn41Ser,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;							MODERATE	122/933	N41S	OR8BC_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000307159		CCDS31711.1			1	
PCLO	0	LGGM	GRCh37	7	82595765	82595765	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	121	21	.	.	ENST00000333891.9:c.3339A>G	p.Arg1113=	p.R1113=	ENST00000333891	NM_033026.5	1113	agA/agG	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		142			HGNC	p.R1113R		PCLO		SNV			1				ENST00000423517	protein_coding			Gene3D:3.30.40.10,Pfam_domain:PF05715,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Superfamily_domains:SSF57903		R		C		3677/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,non_coding_transcript_exon_variant,,ENST00000461143,;							LOW	3339/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
IFT46	0	LGGM	GRCh37	11	118426004	118426004	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	5	23	.	.	ENST00000264020.2:c.372A>G	p.Pro124=	p.P124=	ENST00000264020	NM_020153.3	124	ccA/ccG	0	1		UPI0000037C16	0		ENST00000264021		ENSG00000118096	26146		28			HGNC	p.P124P		IFT46		SNV							ENST00000534114	protein_coding			hmmpanther:PTHR13376,hmmpanther:PTHR13376:SF0,Pfam_domain:PF12317		P		C		638/1722				E9PSB9_HUMAN,E9PRT0_HUMAN,E9PKW0_HUMAN,E9PIM8_HUMAN				IFT46,synonymous_variant,p.=,ENST00000264020,NM_020153.3;IFT46,synonymous_variant,p.=,ENST00000264021,NM_001168618.1;IFT46,synonymous_variant,p.=,ENST00000530872,;IFT46,synonymous_variant,p.=,ENST00000531939,;IFT46,synonymous_variant,p.=,ENST00000528378,;IFT46,synonymous_variant,p.=,ENST00000534156,;IFT46,synonymous_variant,p.=,ENST00000534114,;IFT46,downstream_gene_variant,,ENST00000533918,;IFT46,downstream_gene_variant,,ENST00000527868,;IFT46,non_coding_transcript_exon_variant,,ENST00000531201,;IFT46,non_coding_transcript_exon_variant,,ENST00000525060,;IFT46,downstream_gene_variant,,ENST00000530185,;							LOW	219/915		IFT46_HUMAN			Transcript			.	ENSP00000264021		CCDS53718.1			1	
SLC15A1	0	LGGM	GRCh37	13	99378442	99378442	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	1	23	.	.	ENST00000376503.5:c.180G>T	p.Val60=	p.V60=	ENST00000376503	NM_005073.3	60	gtG/gtT	0	1	1	UPI000013166F	0		ENST00000376503		ENSG00000088386	10920		24			HGNC	p.V60V		SLC15A1		SNV							ENST00000376503	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00926,hmmpanther:PTHR11654:SF89,hmmpanther:PTHR11654		V		A		236/3106				B2CQT6_HUMAN			YES	SLC15A1,synonymous_variant,p.=,ENST00000376503,NM_005073.3;SLC15A1,non_coding_transcript_exon_variant,,ENST00000376494,;							LOW	180/2127		S15A1_HUMAN			Transcript			.	ENSP00000365686		CCDS9489.1			1	
CYTH3	0	LGGM	GRCh37	7	6227309	6227309	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	17	24	.	.	ENST00000350796.3:c.161A>G	p.Asn54Ser	p.N54S	ENST00000350796	NM_004227.3	54	aAt/aGt	0	1	1	UPI000002A7A1	0	NA	ENST00000350796		ENSG00000008256	9504		41	0.345		HGNC	p.N54S	rs756445114	CYTH3		SNV							ENST00000350796	protein_coding	getma.org/?cm=var&var=hg19,7,6227309,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10663:SF129,hmmpanther:PTHR10663		N/S		C	neutral	298/4505	3.00E-05	getma.org/?cm=msa&ty=f&p=CYH3_HUMAN&rb=1&re=61&var=N54S	tolerated(0.79)	Q96HS5_HUMAN			YES	CYTH3,missense_variant,p.Asn54Ser,ENST00000350796,NM_004227.3;CYTH3,non_coding_transcript_exon_variant,,ENST00000482460,;							MODERATE	161/1200	N54S	CYH3_HUMAN			Transcript		benign(0.085)	.	ENSP00000297044	1.65E-05	CCDS5346.1			1	
OR4F6	0	LGGM	GRCh37	15	102346743	102346743	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	30	24	.	.	ENST00000328882.4:c.821T>A	p.Phe274Tyr	p.F274Y	ENST00000328882	NM_001005326.1	274	tTt/tAt	0	1	1	UPI0000041BF4	0	NA	ENST00000328882		ENSG00000184140	15372		54	4.115		HGNC	p.F274Y		OR4F6		SNV							ENST00000328882	protein_coding	getma.org/?cm=var&var=hg19,15,102346743,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF199,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		F/Y		A	high	842/975		getma.org/?cm=msa&ty=f&p=OR4F6_HUMAN&rb=139&re=280&var=F274Y	deleterious_low_confidence(0)				YES	OR4F6,missense_variant,p.Phe274Tyr,ENST00000328882,NM_001005326.1;							MODERATE	821/939	F274Y	OR4F6_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000327525		CCDS32341.1			1	
NCBP1	0	LGGM	GRCh37	9	100429154	100429154	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	41	24	.	.	ENST00000375147.3:c.2011A>G	p.Lys671Glu	p.K671E	ENST00000375147	NM_002486.4	671	Aaa/Gaa	0	1	1	UPI0000112754	0	getma.org/pdb.php?prot=NCBP1_HUMAN&from=485&to=754&var=K671E	ENST00000375147		ENSG00000136937	7658		65	0.755		HGNC	p.K24E		NCBP1		SNV							ENST00000375130	protein_coding	getma.org/?cm=var&var=hg19,9,100429154,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09090,hmmpanther:PTHR12412,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		K/E		G	neutral	2267/5178		getma.org/?cm=msa&ty=f&p=NCBP1_HUMAN&rb=485&re=754&var=K671E	tolerated(0.71)				YES	NCBP1,missense_variant,p.Lys671Glu,ENST00000375147,NM_002486.4;NCBP1,missense_variant,p.Lys38Glu,ENST00000375130,;							MODERATE	2011/2373	K671E	NCBP1_HUMAN			Transcript		benign(0.006)	.	ENSP00000364289		CCDS6728.1			1	
SCIN	0	LGGM	GRCh37	7	12684328	12684328	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	45	26	.	.	ENST00000297029.5:c.1879G>A	p.Val627Ile	p.V627I	ENST00000297029	NM_001112706.2	627	Gtt/Att	0	1	1	UPI000013C4DF	0	getma.org/pdb.php?prot=ADSV_HUMAN&from=626&to=704&var=V627I	ENST00000297029		ENSG00000006747	21695		71	0.285		HGNC	p.V380I		SCIN		SNV							ENST00000445618	protein_coding	getma.org/?cm=var&var=hg19,7,12684328,G,A&fts=all		Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,SMART_domains:SM00262,Superfamily_domains:SSF55753		V/I		A	neutral	1980/3137		getma.org/?cm=msa&ty=f&p=ADSV_HUMAN&rb=626&re=704&var=V627I	tolerated(1)	Q8NBV9_HUMAN,Q75MG0_HUMAN			YES	SCIN,missense_variant,p.Val627Ile,ENST00000297029,NM_001112706.2;SCIN,missense_variant,p.Val380Ile,ENST00000519209,NM_033128.3;SCIN,missense_variant,p.Val380Ile,ENST00000445618,;SCIN,splice_region_variant,p.=,ENST00000341757,;							MODERATE	1879/2148	V627I	ADSV_HUMAN			Transcript		benign(0)	.	ENSP00000297029		CCDS47545.1			1	
IBTK	0	LGGM	GRCh37	6	82906088	82906088	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	30	27	.	.	ENST00000306270.7:c.3101A>G	p.Tyr1034Cys	p.Y1034C	ENST00000306270	NM_015525.2	1034	tAt/tGt	0	1	1	UPI000041929F	0	NA	ENST00000306270		ENSG00000005700	17853		57	1.5		HGNC	p.Y833C		IBTK		SNV							ENST00000503631	protein_coding	getma.org/?cm=var&var=hg19,6,82906088,T,C&fts=all		hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2		Y/C		C	low	3651/6054		getma.org/?cm=msa&ty=f&p=IBTK_HUMAN&rb=977&re=1259&var=Y1034C	tolerated(0.15)				YES	IBTK,missense_variant,p.Tyr1034Cys,ENST00000306270,NM_015525.2;IBTK,missense_variant,p.Tyr1019Cys,ENST00000510291,;IBTK,missense_variant,p.Tyr833Cys,ENST00000503631,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;IBTK,upstream_gene_variant,,ENST00000471036,;							MODERATE	3101/4062	Y1034C	IBTK_HUMAN			Transcript		benign(0.003)	.	ENSP00000305721		CCDS34490.1			1	
TMED7	0	LGGM	GRCh37	5	114956203	114956203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	34	27	.	.	ENST00000282382.4:c.367T>A	p.Tyr123Asn	p.Y123N	ENST00000282382		123	Tat/Aat	0	1	1	UPI000007008A	0	NA	ENST00000456936		ENSG00000134970	24253		61	3.32		HGNC	p.Y123N		TMED7		SNV							ENST00000456936	protein_coding	getma.org/?cm=var&var=hg19,5,114956203,A,T&fts=all		PROSITE_profiles:PS50866,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF49,Pfam_domain:PF01105,Superfamily_domains:0041713		Y/N		T	medium	748/3757		getma.org/?cm=msa&ty=f&p=TMED7_HUMAN&rb=36&re=213&var=Y123N	deleterious(0)	G3V2Y2_HUMAN,B4E2C1_HUMAN			YES	TMED7,missense_variant,p.Tyr123Asn,ENST00000456936,NM_181836.5;TICAM2,missense_variant,p.Tyr123Asn,ENST00000408996,NM_001164469.2,NM_001164468.2;TMED7-TICAM2,missense_variant,p.Tyr123Asn,ENST00000282382,;TMED7-TICAM2,missense_variant,p.Tyr123Asn,ENST00000333314,;TMED7,downstream_gene_variant,,ENST00000508420,;AC010226.4,non_coding_transcript_exon_variant,,ENST00000515570,;AC010226.4,downstream_gene_variant,,ENST00000508517,;TMED7,non_coding_transcript_exon_variant,,ENST00000503010,;TMED7-TICAM2,upstream_gene_variant,,ENST00000514548,;							MODERATE	367/675	Y123N	TMED7_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000405926		CCDS4120.1			1	
ZNF354A	0	LGGM	GRCh37	5	178139138	178139138	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	35	27	.	.	ENST00000335815.2:c.1741A>T	p.Asn581Tyr	p.N581Y	ENST00000335815	NM_005649.2	581	Aat/Tat	0	1	1	UPI000013EB5E	0	getma.org/pdb.php?prot=Z354A_HUMAN&from=566&to=589&var=N581Y	ENST00000335815		ENSG00000169131	11628		62	2.29		HGNC	p.N581Y		ZNF354A		SNV							ENST00000335815	protein_coding	getma.org/?cm=var&var=hg19,5,178139138,T,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF146,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/Y		A	medium	1939/2484		getma.org/?cm=msa&ty=f&p=Z354A_HUMAN&rb=546&re=605&var=N581Y	deleterious(0)	E5RHT5_HUMAN			YES	ZNF354A,missense_variant,p.Asn581Tyr,ENST00000335815,NM_005649.2;ZNF354A,downstream_gene_variant,,ENST00000520331,;							MODERATE	1741/1818	N581Y	Z354A_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000337122		CCDS4438.1			1	
SMCHD1	0	LGGM	GRCh37	18	2724952	2724952	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	40	28	.	.	ENST00000320876.6:c.2659G>A	p.Gly887Ser	p.G887S	ENST00000320876	NM_015295.2	887	Ggt/Agt	0	1	1	UPI00001D7AAD	0	NA	ENST00000320876		ENSG00000101596	29090		68	0.345		HGNC	p.G358S		SMCHD1		SNV			1				ENST00000577880	protein_coding	getma.org/?cm=var&var=hg19,18,2724952,G,A&fts=all		hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640		G/S		A	neutral	2997/8821		getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=700&re=899&var=G887S	deleterious(0.04)				YES	SMCHD1,missense_variant,p.Gly887Ser,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Gly887Ser,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,upstream_gene_variant,,ENST00000609587,;SMCHD1,missense_variant,p.Gly358Ser,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000581383,;SMCHD1,upstream_gene_variant,,ENST00000581631,;SMCHD1,downstream_gene_variant,,ENST00000581711,;							MODERATE	2659/6018	G887S	SMHD1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000326603		CCDS45822.1			1	
TMED7	0	LGGM	GRCh37	5	114956247	114956247	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	35	28	.	.	ENST00000282382.4:c.323T>G	p.Phe108Cys	p.F108C	ENST00000282382		108	tTt/tGt	0	1	1	UPI000007008A	0	NA	ENST00000456936		ENSG00000134970	24253		63	3.32		HGNC	p.F108C		TMED7		SNV							ENST00000456936	protein_coding	getma.org/?cm=var&var=hg19,5,114956247,A,C&fts=all		PROSITE_profiles:PS50866,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF49,Pfam_domain:PF01105,Superfamily_domains:0041713		F/C		C	medium	704/3757		getma.org/?cm=msa&ty=f&p=TMED7_HUMAN&rb=36&re=213&var=F108C	deleterious(0.01)	G3V2Y2_HUMAN,B4E2C1_HUMAN			YES	TMED7,missense_variant,p.Phe108Cys,ENST00000456936,NM_181836.5;TICAM2,missense_variant,p.Phe108Cys,ENST00000408996,NM_001164469.2,NM_001164468.2;TMED7-TICAM2,missense_variant,p.Phe108Cys,ENST00000282382,;TMED7-TICAM2,missense_variant,p.Phe108Cys,ENST00000333314,;TMED7,downstream_gene_variant,,ENST00000508420,;AC010226.4,non_coding_transcript_exon_variant,,ENST00000515570,;AC010226.4,downstream_gene_variant,,ENST00000508517,;TMED7,non_coding_transcript_exon_variant,,ENST00000503010,;TMED7-TICAM2,upstream_gene_variant,,ENST00000514548,;							MODERATE	323/675	F108C	TMED7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000405926		CCDS4120.1			1	
SLC26A4	0	LGGM	GRCh37	7	107330640	107330640	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	21	30	.	.	ENST00000265715.3:c.1221T>G	p.Leu407=	p.L407=	ENST00000265715	NM_000441.1	407	ctT/ctG	0	1	1	UPI00001315A4	0		ENST00000265715		ENSG00000091137	8818		51			HGNC	p.L407L		SLC26A4		SNV			1				ENST00000265715	protein_coding			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix		L		G		1445/4930				Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN			YES	SLC26A4,synonymous_variant,p.=,ENST00000265715,NM_000441.1;SLC26A4,upstream_gene_variant,,ENST00000543100,;SLC26A4,upstream_gene_variant,,ENST00000541474,;SLC26A4,upstream_gene_variant,,ENST00000544569,;SLC26A4,upstream_gene_variant,,ENST00000480841,;SLC26A4,upstream_gene_variant,,ENST00000460748,;SLC26A4,upstream_gene_variant,,ENST00000497446,;SLC26A4,upstream_gene_variant,,ENST00000477350,;							LOW	1221/2343		S26A4_HUMAN			Transcript			.	ENSP00000265715		CCDS5746.1			1	
CCDC174	0	LGGM	GRCh37	3	14708354	14708354	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	70	32	.	.	ENST00000383794.3:c.624T>C	p.Asp208=	p.D208=	ENST00000383794	NM_016474.4	208	gaT/gaC	0	1	1	UPI00004120DD	0		ENST00000383794		ENSG00000154781	28033		102			HGNC	p.D208D	rs766041003	CCDC174		SNV							ENST00000303688	protein_coding			hmmpanther:PTHR15885		D		C		697/2942	1.51E-05						YES	CCDC174,synonymous_variant,p.=,ENST00000383794,NM_016474.4;CCDC174,synonymous_variant,p.=,ENST00000303688,;CCDC174,upstream_gene_variant,,ENST00000476763,;CCDC174,non_coding_transcript_exon_variant,,ENST00000465759,;CCDC174,downstream_gene_variant,,ENST00000463438,;							LOW	624/1404		CC174_HUMAN			Transcript			.	ENSP00000373304	8.24E-06	CCDS2620.2			1	
OR4C11	0	LGGM	GRCh37	11	55371169	55371169	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	5	32	.	.	ENST00000302231.4:c.681T>A	p.Ser227Arg	p.S227R	ENST00000302231	NM_001004700.2	227	agT/agA	0	1	1	UPI000013E7AD	0	NA	ENST00000302231		ENSG00000172188	15167		37	4.31		HGNC	p.S227R		OR4C11		SNV							ENST00000302231	protein_coding	getma.org/?cm=var&var=hg19,11,55371169,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF33,Superfamily_domains:SSF81321		S/R		T	high	706/1045		getma.org/?cm=msa&ty=f&p=OR4CB_HUMAN&rb=137&re=278&var=S227R	deleterious(0.01)				YES	OR4C11,missense_variant,p.Ser227Arg,ENST00000302231,NM_001004700.2;							MODERATE	681/933	S227R	OR4CB_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000306651		CCDS31503.1			1	
CTSC	0	LGGM	GRCh37	11	88033812	88033812	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	7	37	.	.	ENST00000227266.5:c.643C>A	p.Pro215Thr	p.P215T	ENST00000227266	NM_001814.4	215	Ccc/Acc	0	1	1	UPI000006D22D	0	NA	ENST00000227266		ENSG00000109861	2528		44	2.57		HGNC	p.P215T		CTSC		SNV			1				ENST00000227266	protein_coding	getma.org/?cm=var&var=hg19,11,88033812,G,T&fts=all		Gene3D:3.90.70.10,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF314,Superfamily_domains:SSF54001		P/T		T	medium	758/1921		getma.org/?cm=msa&ty=f&p=CATC_HUMAN&rb=143&re=230&var=P215T	deleterious(0.04)	I3V9T0_HUMAN			YES	CTSC,missense_variant,p.Pro215Thr,ENST00000227266,NM_001814.4;CTSC,missense_variant,p.Pro172Thr,ENST00000527018,;CTSC,upstream_gene_variant,,ENST00000533897,;							MODERATE	643/1392	P215T	CATC_HUMAN			Transcript		benign(0.053)	.	ENSP00000227266		CCDS8282.1			1	
NLRP8	0	LGGM	GRCh37	19	56466975	56466975	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	23	41	.	.	ENST00000291971.3:c.1551G>A	p.Leu517=	p.L517=	ENST00000291971	NM_176811.2	517	ttG/ttA	0	1	1	UPI00001BB3C9	0		ENST00000291971		ENSG00000179709	22940		64			HGNC	p.L517L		NLRP8		SNV							ENST00000291971	protein_coding			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF11		L		A		1622/3934							YES	NLRP8,synonymous_variant,p.=,ENST00000291971,NM_176811.2;NLRP8,synonymous_variant,p.=,ENST00000590542,;							LOW	1551/3147		NALP8_HUMAN			Transcript			.	ENSP00000291971		CCDS12937.1			1	
RALGAPB	0	LGGM	GRCh37	20	37182534	37182534	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060690	H060690N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	22	43	.	.	ENST00000262879.6:c.3187A>G	p.Arg1063Gly	p.R1063G	ENST00000262879		1063	Agg/Ggg	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		65	0.95		HGNC	p.R891G		RALGAPB		SNV							ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37182534,A,G&fts=all		hmmpanther:PTHR21344		R/G		G	low	3471/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=1001&re=1200&var=R1063G	tolerated(0.29)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Arg1063Gly,ENST00000262879,;RALGAPB,missense_variant,p.Arg1059Gly,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Arg841Gly,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Arg1063Gly,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Arg891Gly,ENST00000438490,;							MODERATE	3187/4485	R1063G	RLGPB_HUMAN			Transcript		benign(0.397)	.	ENSP00000262879		CCDS13305.1			1	
SZT2	0	LGGM	GRCh37	1	43885836	43885836	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	45	45	.	.	ENST00000562955.1:c.1103G>A	p.Arg368His	p.R368H	ENST00000562955	NM_015284.3	368	cGc/cAc	0	1	1	UPI0001E24F46	0	NA	ENST00000562955		ENSG00000198198	29040	0.000176	90	1.15		HGNC	p.R368H	rs757178219	SZT2		SNV			1				ENST00000562955	protein_coding	getma.org/?cm=var&var=hg19,1,43885836,G,A&fts=all		hmmpanther:PTHR14918		R/H		A	low	1103/12281		getma.org/?cm=msa&ty=f&p=SZT2_HUMAN&rb=1&re=859&var=R368H	tolerated(0.06)				YES	SZT2,missense_variant,p.Arg368His,ENST00000562955,NM_015284.3;SZT2,upstream_gene_variant,,ENST00000372442,;SZT2,upstream_gene_variant,,ENST00000470139,;							MODERATE	1103/10128	R368H	SZT2_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000457168	1.74E-05	CCDS30694.2			1	
REV3L	0	LGGM	GRCh37	6	111695090	111695090	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H060690	H060690N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	43	49	.	.	ENST00000358835.3:c.4468A>T	p.Arg1490Ter	p.R1490*	ENST00000358835		1490	Aga/Tga	0	1	1	UPI0000140023	0	NA	ENST00000358835		ENSG00000009413	9968		92	0		HGNC	p.R1490X		REV3L		SNV							ENST00000358835	protein_coding	getma.org/?cm=var&var=hg19,6,111695090,T,A&fts=all		hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		R/*		A	NA	4923/10789		NA		Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,stop_gained,p.Arg1412Ter,ENST00000435970,NM_001286432.1;REV3L,stop_gained,p.Arg1490Ter,ENST00000358835,;REV3L,stop_gained,p.Arg1490Ter,ENST00000368802,NM_002912.3;REV3L,stop_gained,p.Arg1490Ter,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							HIGH	4468/9393	R1490*	DPOLZ_HUMAN			Transcript			.	ENSP00000351697		CCDS5091.2			1	
NBR1	0	LGGM	GRCh37	17	41342722	41342722	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060690	H060690N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	80	58	.	.	ENST00000422280.1:c.792G>T	p.Val264=	p.V264=	ENST00000422280	NM_031858.2	264	gtG/gtT	0	1		UPI0000161BF3	0		ENST00000341165		ENSG00000188554	6746		138			HGNC	p.V264V		NBR1		SNV							ENST00000590996	protein_coding			hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1		V		T		932/4656				Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN				NBR1,synonymous_variant,p.=,ENST00000422280,NM_031858.2;NBR1,synonymous_variant,p.=,ENST00000341165,NM_031862.2;NBR1,synonymous_variant,p.=,ENST00000389312,;NBR1,synonymous_variant,p.=,ENST00000590996,NM_005899.3;NBR1,synonymous_variant,p.=,ENST00000589872,;NBR1,synonymous_variant,p.=,ENST00000542611,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;							LOW	792/2901		NBR1_HUMAN			Transcript			.	ENSP00000343479		CCDS45694.1			1	
MROH8	0	LGGM	GRCh37	20	35737013	35737013	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	68	59	.	.	ENST00000343811.4:c.3049G>A	p.Trp1017Ter	p.W1017*	ENST00000343811	NM_152503.4	1017	tGg/tAg	0	1	1	UPI0000E5A31D	0	NA	ENST00000343811		ENSG00000101353	16125		127	0		HGNC	p.W819X		MROH8		SNV							ENST00000217333	protein_coding	getma.org/?cm=var&var=hg19,20,35737013,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF4,Superfamily_domains:SSF48371		W/*		T	NA	3049/3425		NA		Q5JYR0_HUMAN,Q5JYQ9_HUMAN			YES	MROH8,stop_gained,p.Trp1017Ter,ENST00000343811,NM_152503.4;MROH8,stop_gained,p.Trp990Ter,ENST00000400441,;MROH8,stop_gained,p.Trp819Ter,ENST00000217333,;MROH8,stop_gained,p.Trp618Ter,ENST00000417458,;MROH8,3_prime_UTR_variant,,ENST00000441008,;MROH8,non_coding_transcript_exon_variant,,ENST00000466091,;							HIGH	3050/3210	W990*				Transcript			.	ENSP00000339971					1	
STAC3	0	LGGM	GRCh37	12	57640667	57640667	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	59	59	.	.	ENST00000332782.2:c.523G>A	p.Asp175Asn	p.D175N	ENST00000332782	NM_145064.1	175	Gat/Aat	0	1	1	UPI000006E4D3	0	NA	ENST00000332782		ENSG00000185482	28423		118	1.78		HGNC	p.D175N		STAC3		SNV			1				ENST00000332782	protein_coding	getma.org/?cm=var&var=hg19,12,57640667,C,T&fts=all		hmmpanther:PTHR15135,hmmpanther:PTHR15135:SF2		D/N		T	low	725/1656		getma.org/?cm=msa&ty=f&p=STAC3_HUMAN&rb=143&re=252&var=D175N	deleterious(0.03)	G3V5D4_HUMAN,B4DUK9_HUMAN			YES	STAC3,missense_variant,p.Asp175Asn,ENST00000332782,NM_145064.1;STAC3,missense_variant,p.Asp136Asn,ENST00000554578,NM_001286256.1;STAC3,5_prime_UTR_variant,,ENST00000546246,NM_001286257.1;R3HDM2,downstream_gene_variant,,ENST00000413953,;STAC3,downstream_gene_variant,,ENST00000553489,;STAC3,5_prime_UTR_variant,,ENST00000557176,;STAC3,non_coding_transcript_exon_variant,,ENST00000554003,;RP11-123K3.4,downstream_gene_variant,,ENST00000548184,;STAC3,downstream_gene_variant,,ENST00000553294,;							MODERATE	523/1095	D175N	STAC3_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000329200		CCDS8936.1			1	
CACNA1E	0	LGGM	GRCh37	1	181453145	181453145	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060690	H060690N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060690N.bam, H060690T.bam	Illumina HiSeq	92	110	.	.	ENST00000367573.2:c.265C>T	p.Pro89Ser	p.P89S	ENST00000367573	NM_001205293.1	89	Ccg/Tcg	0	1	1	UPI00004588C2	0	NA	ENST00000367573		ENSG00000198216	1392		202	1.725		HGNC	p.P89S		CACNA1E		SNV							ENST00000367570	protein_coding	getma.org/?cm=var&var=hg19,1,181453145,C,T&fts=all		Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324		P/S		T	low	265/7067		getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=1&re=126&var=P89S	deleterious(0.01)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.Pro89Ser,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Pro40Ser,ENST00000357570,;CACNA1E,missense_variant,p.Pro89Ser,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Pro40Ser,ENST00000358338,;CACNA1E,missense_variant,p.Pro89Ser,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Pro89Ser,ENST00000360108,;CACNA1E,missense_variant,p.Pro89Ser,ENST00000524607,;CACNA1E,splice_region_variant,,ENST00000367567,;CACNA1E,splice_region_variant,,ENST00000533229,;							MODERATE	265/6942	P89S	CAC1E_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000356545		CCDS55664.1			1	
PAK6	0	LGGM	GRCh37	15	40568126	40568126	+	splice_acceptor_variant,NMD_transcript_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	33	2	.	.	ENST00000558658.1:c.*1677-2A>T		p.X559_splice	ENST00000558658				0	1		UPI0000001C3B	0		ENST00000260404		ENSG00000137843	16061		35			HGNC	-		PAK6		SNV							ENST00000453867	protein_coding							T		-/3865				H0YMS4_HUMAN,H0YM99_HUMAN,H0YLZ9_HUMAN,H0YL16_HUMAN,H0YK91_HUMAN,H0YK74_HUMAN				PAK6,splice_acceptor_variant,,ENST00000455577,NM_001276718.1;PAK6,splice_acceptor_variant,,ENST00000560346,;PAK6,splice_acceptor_variant,,ENST00000441369,NM_001128628.2;PAK6,splice_acceptor_variant,,ENST00000260404,NM_020168.5;PAK6,splice_acceptor_variant,,ENST00000453867,NM_001128629.2;PAK6,splice_acceptor_variant,,ENST00000542403,NM_001276717.1;PAK6,downstream_gene_variant,,ENST00000557926,;RP11-133K1.2,splice_acceptor_variant,,ENST00000559936,;RP11-133K1.2,splice_acceptor_variant,,ENST00000558658,;RP11-133K1.2,splice_acceptor_variant,,ENST00000558965,;PAK6,splice_acceptor_variant,,ENST00000557808,;PLCB2,downstream_gene_variant,,ENST00000560009,;							HIGH	1879/2046		PAK6_HUMAN			Transcript			.	ENSP00000260404		CCDS10054.1			1	
BLTP1	0	LGGM	GRCh37	4	123113393	123113393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	18	2	.	.	ENST00000264501.4:c.911C>A	p.Pro304Gln	p.P304Q	ENST00000264501		304	cCg/cAg	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		20	1.195		HGNC	p.P304Q		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123113393,C,A&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		P/Q		A	low	1284/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1&re=1180&var=P304Q		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Pro304Gln,ENST00000264501,;KIAA1109,missense_variant,p.Pro304Gln,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Pro304Gln,ENST00000455637,;KIAA1109,missense_variant,p.Pro137Gln,ENST00000424425,;KIAA1109,upstream_gene_variant,,ENST00000495260,;							MODERATE	911/15018	P304Q	K1109_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264501		CCDS43267.1			1	
PCSK1	0	LGGM	GRCh37	5	95733140	95733140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	22	2	.	.	ENST00000311106.3:c.1622G>T	p.Arg541Leu	p.R541L	ENST00000311106	NM_000439.4	541	cGg/cTg	0	1	1	UPI000013F0F5	0	getma.org/pdb.php?prot=NEC1_HUMAN&from=504&to=591&var=R541L	ENST00000311106		ENSG00000175426	8743		24	1.455		HGNC	p.R541L		PCSK1		SNV			1				ENST00000311106	protein_coding	getma.org/?cm=var&var=hg19,5,95733140,C,A&fts=all		hmmpanther:PTHR10795:SF343,hmmpanther:PTHR10795,Gene3D:2.60.120.260,Pfam_domain:PF01483,Superfamily_domains:SSF49785		R/L		A	low	1860/5086		getma.org/?cm=msa&ty=f&p=NEC1_HUMAN&rb=504&re=591&var=R541L	tolerated(0.58)	D6RJA3_HUMAN			YES	PCSK1,missense_variant,p.Arg541Leu,ENST00000311106,NM_000439.4,NM_001177876.1;PCSK1,missense_variant,p.Arg494Leu,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;							MODERATE	1622/2262	R541L	NEC1_HUMAN			Transcript		benign(0.29)	.	ENSP00000308024		CCDS4081.1			1	
DNM1	0	LGGM	GRCh37	9	130980952	130980952	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	6	2	.	.	ENST00000372923.3:c.327C>A	p.Thr109=	p.T109=	ENST00000372923	NM_004408.2	109	acC/acA	0	1	1	UPI000013CA31	0		ENST00000372923		ENSG00000106976	2972		8			HGNC	p.T109T		DNM1		SNV			1				ENST00000486160	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00350,PROSITE_profiles:PS51718,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32,SMART_domains:SM00053,Superfamily_domains:SSF52540		T		A		419/3221							YES	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;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;DNM1,upstream_gene_variant,,ENST00000482638,;							LOW	327/2595		DYN1_HUMAN			Transcript			.	ENSP00000362014		CCDS6895.1			1	
MAN2A1	0	LGGM	GRCh37	5	109125174	109125174	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	3	2	.	.	ENST00000261483.4:c.1889A>C	p.Lys630Thr	p.K630T	ENST00000261483	NM_002372.2	630	aAa/aCa	0	1	1	UPI000013D193	0	NA	ENST00000261483		ENSG00000112893	6824		5	0.69		HGNC	p.K630T		MAN2A1		SNV							ENST00000261483	protein_coding	getma.org/?cm=var&var=hg19,5,109125174,A,C&fts=all		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:2.60.40.1180,Superfamily_domains:SSF74650		K/T		C	neutral	2941/4667		getma.org/?cm=msa&ty=f&p=MA2A1_HUMAN&rb=589&re=647&var=K630T	tolerated(0.71)	Q49A69_HUMAN			YES	MAN2A1,missense_variant,p.Lys630Thr,ENST00000261483,NM_002372.2;MAN2A1,upstream_gene_variant,,ENST00000502261,;							MODERATE	1889/3435	K630T	MA2A1_HUMAN			Transcript		benign(0.009)	.	ENSP00000261483		CCDS34209.1			1	
ADRA2A	0	LGGM	GRCh37	10	112837984	112837984	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	7	2	.	.	ENST00000280155.2:c.230G>A	p.Arg77His	p.R77H	ENST00000280155	NM_000681.3	77	cGc/cAc	0	1	1	UPI000018CE86	0	getma.org/pdb.php?prot=ADA2A_HUMAN&from=50&to=426&var=R62H	ENST00000280155		ENSG00000150594	281		9	2.9		HGNC	p.R77H		ADRA2A		SNV							ENST00000280155	protein_coding	getma.org/?cm=var&var=hg19,10,112837984,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF24,Superfamily_domains:SSF81321		R/H		A	medium	1195/3869		getma.org/?cm=msa&ty=f&p=ADA2A_HUMAN&rb=50&re=426&var=R62H	deleterious(0.01)				YES	ADRA2A,missense_variant,p.Arg77His,ENST00000280155,NM_000681.3;							MODERATE	230/1398	R62H	ADA2A_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000280155		CCDS7569.2			1	
IFITM3	0	LGGM	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	38	3	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0	1	1	UPI00000465C0	0	NA	ENST00000399808		ENSG00000142089	5414	0.0386	41	0.895		HGNC	p.P70T	rs199749095,COSM42691	IFITM3	0.0776	SNV			1	0.0604		0,1	ENST00000399808	protein_coding	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix		P/T		T	low	445/808	0.0502	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	tolerated(0.45)	E9PS44_HUMAN			YES	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,;	0.0105				0,1		MODERATE	208/402	P70T	IFM3_HUMAN	0.0265		Transcript		benign(0.001)	common_variant	ENSP00000382707	0.0511	CCDS41585.1	0.0547		1	23658454
OTOGL	0	LGGM	GRCh37	12	80699430	80699430	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	12	3	.	.	ENST00000458043.2:c.3261A>G	p.Glu1087=	p.E1087=	ENST00000458043	NM_173591.3	1087	gaA/gaG	0	1		UPI00020CE39B	0		ENST00000547103		ENSG00000165899	26901		15			HGNC	p.E1087E		OTOGL		SNV			1				ENST00000547103	protein_coding			PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339		E		G		3267/8032				E2QRK2_HUMAN				OTOGL,synonymous_variant,p.=,ENST00000458043,NM_173591.3;OTOGL,synonymous_variant,p.=,ENST00000547103,;							LOW	3261/6999		OTOGL_HUMAN			Transcript			.	ENSP00000447211					1	
KCNJ6	0	LGGM	GRCh37	21	39086767	39086767	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	19	3	.	.	ENST00000609713.1:c.693C>T	p.His231=	p.H231=	ENST00000609713	NM_002240.3	231	caC/caT	0	1	1	UPI0000000B10	0		ENST00000609713		ENSG00000157542	6267		22			HGNC	p.H231H		KCNJ6		SNV			1				ENST00000400482	protein_coding			Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19,Superfamily_domains:SSF81296		H		A		1283/19645							YES	KCNJ6,synonymous_variant,p.=,ENST00000609713,NM_002240.3;KCNJ6,synonymous_variant,p.=,ENST00000288309,;KCNJ6-IT1,downstream_gene_variant,,ENST00000435001,;							LOW	693/1272					Transcript			.	ENSP00000477437		CCDS42927.1			1	
MBD3L1	0	LGGM	GRCh37	19	8953745	8953745	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	17	3	.	.	ENST00000595891.1:c.391A>T	p.Ile131Leu	p.I131L	ENST00000595891		131	Ata/Tta	0	1		UPI000013EA77	0	NA	ENST00000305625		ENSG00000170948	15774		20	-0.255		HGNC	p.I131L		MBD3L1		SNV							ENST00000305625	protein_coding	getma.org/?cm=var&var=hg19,19,8953745,A,T&fts=all		hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF1,Pfam_domain:PF14048		I/L		T	neutral	477/748		getma.org/?cm=msa&ty=f&p=MB3L1_HUMAN&rb=78&re=172&var=I131L	tolerated(0.34)					MBD3L1,missense_variant,p.Ile131Leu,ENST00000595891,;MBD3L1,missense_variant,p.Ile131Leu,ENST00000305625,NM_145208.2;							MODERATE	391/585	I131L	MB3L1_HUMAN			Transcript		benign(0.001)	.	ENSP00000304198		CCDS12209.1			1	
TACC2	0	LGGM	GRCh37	10	124008594	124008594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	2	3	.	.	ENST00000369005.1:c.8583G>T	p.Gln2861His	p.Q2861H	ENST00000369005	NM_206862.2	2861	caG/caT	0	1		UPI0000246F6B	0	NA	ENST00000334433		ENSG00000138162	11523		5	2.045		HGNC	p.Q1007H		TACC2		SNV							ENST00000358010	protein_coding	getma.org/?cm=var&var=hg19,10,124008594,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11,Pfam_domain:PF05010		Q/H		T	medium	8629/9377		getma.org/?cm=msa&ty=f&p=TACC2_HUMAN&rb=2741&re=2947&var=Q2861H						TACC2,missense_variant,p.Gln2861His,ENST00000369005,NM_206862.2;TACC2,missense_variant,p.Gln2861His,ENST00000334433,;TACC2,missense_variant,p.Gln2788His,ENST00000515273,;TACC2,missense_variant,p.Gln2739His,ENST00000515603,;TACC2,missense_variant,p.Gln2788His,ENST00000453444,;TACC2,missense_variant,p.Gln1007His,ENST00000513429,NM_206861.1;TACC2,missense_variant,p.Gln909His,ENST00000360561,NM_206860.1;TACC2,missense_variant,p.Gln951His,ENST00000368999,;TACC2,missense_variant,p.Gln1007His,ENST00000358010,;TACC2,missense_variant,p.Gln484His,ENST00000369000,;TACC2,missense_variant,p.Gln488His,ENST00000369001,;TACC2,missense_variant,p.Gln921His,ENST00000369004,;TACC2,missense_variant,p.Gln939His,ENST00000260733,NM_006997.2;TACC2,missense_variant,p.Gln105His,ENST00000490979,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;TACC2,non_coding_transcript_exon_variant,,ENST00000465600,;TACC2,non_coding_transcript_exon_variant,,ENST00000503769,;							MODERATE	8583/8847	Q2861H	TACC2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000334280		CCDS7626.1			1	
GABRR1	0	LGGM	GRCh37	6	89891687	89891687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	29	3	.	.	ENST00000454853.2:c.886G>T	p.Val296Phe	p.V296F	ENST00000454853	NM_001256704.1	296	Gtc/Ttc	0	1	1	UPI0000D4AF7D	0	getma.org/pdb.php?prot=GBRR1_HUMAN&from=288&to=426&var=V296F	ENST00000454853		ENSG00000146276	4090		32	3.46		HGNC	p.V279F		GABRR1		SNV							ENST00000435811	protein_coding	getma.org/?cm=var&var=hg19,6,89891687,C,A&fts=all		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF30,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		V/F		A	medium	997/2820		getma.org/?cm=msa&ty=f&p=GBRR1_HUMAN&rb=288&re=426&var=V296F	deleterious(0)				YES	GABRR1,missense_variant,p.Val279Phe,ENST00000435811,NM_001256703.1;GABRR1,missense_variant,p.Val296Phe,ENST00000454853,NM_001256704.1,NM_002042.4;GABRR1,missense_variant,p.Val209Phe,ENST00000369451,NM_001267582.1;GABRR1,3_prime_UTR_variant,,ENST00000457434,;							MODERATE	886/1440	V296F	GBRR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412673		CCDS5019.2			1	
RAD54L	0	LGGM	GRCh37	1	46724367	46724367	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	18	3	.	.	ENST00000371975.4:c.220A>T	p.Ile74Phe	p.I74F	ENST00000371975	NM_003579.3	74	Att/Ttt	0	1	1	UPI0000378007	0	NA	ENST00000371975		ENSG00000085999	9826		21	2.56		HGNC	p.I74F		RAD54L		SNV							ENST00000371975	protein_coding	getma.org/?cm=var&var=hg19,1,46724367,A,T&fts=all		hmmpanther:PTHR10799:SF208,hmmpanther:PTHR10799,Pfam_domain:PF08658		I/F		T	medium	894/3108		getma.org/?cm=msa&ty=f&p=RAD54_HUMAN&rb=33&re=138&var=I74F	tolerated(0.09)				YES	RAD54L,missense_variant,p.Ile74Phe,ENST00000371975,NM_003579.3;RAD54L,missense_variant,p.Ile74Phe,ENST00000442598,NM_001142548.1;RAD54L,missense_variant,p.Ile74Phe,ENST00000469835,;RAD54L,non_coding_transcript_exon_variant,,ENST00000493985,;RAD54L,non_coding_transcript_exon_variant,,ENST00000463715,;RAD54L,non_coding_transcript_exon_variant,,ENST00000493032,;RAD54L,non_coding_transcript_exon_variant,,ENST00000487700,;LRRC41,downstream_gene_variant,,ENST00000496156,;RAD54L,upstream_gene_variant,,ENST00000473251,;RAD54L,upstream_gene_variant,,ENST00000472889,;RAD54L,upstream_gene_variant,,ENST00000476687,;							MODERATE	220/2244	I74F	RAD54_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000361043		CCDS532.1			1	
CCDC108	0	LGGM	GRCh37	2	219874694	219874694	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	13	3	.	.	ENST00000341552.5:c.4422C>T	p.Ser1474=	p.S1474=	ENST00000341552	NM_194302.3	1474	tcC/tcT	0	1	1	UPI0000609097	0		ENST00000341552		ENSG00000181378	25325		16			HGNC	p.S1474S		CCDC108		SNV							ENST00000453220	protein_coding			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197		S		A		4506/5953				C9JLP9_HUMAN,C9JIV0_HUMAN			YES	CCDC108,synonymous_variant,p.=,ENST00000341552,NM_194302.3;CCDC108,synonymous_variant,p.=,ENST00000441968,;CCDC108,synonymous_variant,p.=,ENST00000453220,;AC097468.4,non_coding_transcript_exon_variant,,ENST00000441450,;							LOW	4422/5778		CC108_HUMAN			Transcript			.	ENSP00000340776		CCDS2430.2			1	
CD5L	0	LGGM	GRCh37	1	157811463	157811463	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	23	4	.	.	ENST00000368174.4:c.28+1G>C		p.X10_splice	ENST00000368174	NM_005894.2			0	1	1	UPI000012738C	0		ENST00000368174		ENSG00000073754	1690		27			HGNC	-		CD5L		SNV							ENST00000368174	protein_coding							G		-/2191							YES	CD5L,splice_donor_variant,,ENST00000368174,NM_005894.2;CD5L,intron_variant,,ENST00000484609,;							HIGH	28/1044		CD5L_HUMAN			Transcript			.	ENSP00000357156		CCDS1171.1			1	
BMP4	0	LGGM	GRCh37	14	54417502	54417502	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	4	.	.	ENST00000245451.4:c.475C>T	p.Arg159Trp	p.R159W	ENST00000245451	NM_001202.3	159	Cgg/Tgg	0	1	1	UPI000000CC31	0	NA	ENST00000245451		ENSG00000125378	1071		24	2.94		HGNC	p.R159W	rs774455359	BMP4		SNV			1				ENST00000417573	protein_coding	getma.org/?cm=var&var=hg19,14,54417502,G,A&fts=all		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF49		R/W		A	medium	869/1917	3.04E-05	getma.org/?cm=msa&ty=f&p=BMP4_HUMAN&rb=13&re=275&var=R159W	deleterious(0)	U3MVU6_HUMAN,Q53XC5_HUMAN,H0YM53_HUMAN,H0YLW3_HUMAN			YES	BMP4,missense_variant,p.Arg159Trp,ENST00000245451,NM_001202.3;BMP4,missense_variant,p.Arg159Trp,ENST00000417573,NM_130851.2;BMP4,missense_variant,p.Arg159Trp,ENST00000559087,NM_130850.2;BMP4,missense_variant,p.Arg159Trp,ENST00000558984,;BMP4,missense_variant,p.Arg96Trp,ENST00000559501,;BMP4,3_prime_UTR_variant,,ENST00000558961,;BMP4,downstream_gene_variant,,ENST00000559642,;BMP4,downstream_gene_variant,,ENST00000609748,;MIR5580,upstream_gene_variant,,ENST00000580850,;BMP4,downstream_gene_variant,,ENST00000558489,;							MODERATE	475/1227	R159W	BMP4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000245451	1.65E-05	CCDS9715.1			1	
CCBL2	0	LGGM	GRCh37	1	89401892	89401892	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	4	4	.	.	ENST00000260508.4:c.1339A>G	p.Lys447Glu	p.K447E	ENST00000260508	NM_001008661.2	447	Aag/Gag	0	1	1	UPI0000155712	0	getma.org/pdb.php?prot=KAT3_HUMAN&from=447&to=454&var=K447E	ENST00000260508		ENSG00000137944	33238		8	2.33		HGNC	p.K447E		CCBL2		SNV							ENST00000260508	protein_coding	getma.org/?cm=var&var=hg19,1,89401892,T,C&fts=all		Gene3D:3.90.1150.10,hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF336,Superfamily_domains:SSF53383		K/E		C	medium	1677/2070		getma.org/?cm=msa&ty=f&p=KAT3_HUMAN&rb=417&re=454&var=K447E	deleterious(0.03)	B4DW13_HUMAN			YES	CCBL2,missense_variant,p.Lys447Glu,ENST00000260508,NM_001008661.2;CCBL2,missense_variant,p.Lys413Glu,ENST00000370491,NM_001008662.2;CCBL2,3_prime_UTR_variant,,ENST00000370485,;CCBL2,non_coding_transcript_exon_variant,,ENST00000446900,;							MODERATE	1339/1365	K447E	KAT3_HUMAN			Transcript		possibly_damaging(0.611)	.	ENSP00000260508		CCDS30766.1			1	
PITPNM2	0	LGGM	GRCh37	12	123479350	123479350	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	4	4	.	.	ENST00000320201.4:c.2231A>T	p.Asp744Val	p.D744V	ENST00000320201	NM_020845.2	744	gAt/gTt	0	1	1	UPI0000070D27	0	NA	ENST00000320201		ENSG00000090975	21044		8	1.96		HGNC	p.D744V		PITPNM2		SNV							ENST00000280562	protein_coding	getma.org/?cm=var&var=hg19,12,123479350,T,A&fts=all		Pfam_domain:PF02862,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41,PROSITE_profiles:PS51043		D/V		A	medium	2370/6736		getma.org/?cm=msa&ty=f&p=PITM2_HUMAN&rb=715&re=963&var=D744V	deleterious(0)	Q9UF51_HUMAN,F5H664_HUMAN			YES	PITPNM2,missense_variant,p.Asp744Val,ENST00000280562,;PITPNM2,missense_variant,p.Asp744Val,ENST00000320201,NM_020845.2;PITPNM2,missense_variant,p.Asp744Val,ENST00000542749,;PITPNM2,missense_variant,p.Asp465Val,ENST00000392428,;PITPNM2,downstream_gene_variant,,ENST00000436074,;							MODERATE	2231/4050	D744V	PITM2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000322218		CCDS9242.1			1	
ANKRD18A	0	LGGM	GRCh37	9	38620177	38620177	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	10	4	.	.	ENST00000399703.5:c.106C>T	p.Arg36Trp	p.R36W	ENST00000399703	NM_147195.2	36	Cgg/Tgg	0	1	1	UPI00001AF4AF	0	NA	ENST00000399703		ENSG00000180071	23643		14	1.735		HGNC	p.R36W		ANKRD18A		SNV							ENST00000399703	protein_coding	getma.org/?cm=var&var=hg19,9,38620177,G,A&fts=all		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF3,Superfamily_domains:SSF48403		R/W		A	low	481/4041		getma.org/?cm=msa&ty=f&p=AN18B_HUMAN&rb=1&re=37&var=R36W	deleterious(0.02)				YES	ANKRD18A,missense_variant,p.Arg36Trp,ENST00000399703,NM_147195.2;FAM201A,upstream_gene_variant,,ENST00000377680,;FAM201A,upstream_gene_variant,,ENST00000484285,;FAM201A,upstream_gene_variant,,ENST00000471864,;							MODERATE	106/2979	R36W	AN18A_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000382610		CCDS55311.1			1	
RP11-410N8.4	0	LGGM	GRCh37	20	31196221	31196221	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	5	4	.	.	ENST00000375670.1:c.140C>T	p.Pro47Leu	p.P47L	ENST00000375670		47	cCc/cTc	0	1	1	UPI0000160B7F	0		ENST00000375670		ENSG00000204393			9			Clone_based_vega_gene	p.P47L		RP11-410N8.4		SNV							ENST00000375671	protein_coding					P/L		T		372/846							YES	RP11-410N8.4,missense_variant,p.Pro47Leu,ENST00000375670,;RP11-410N8.4,missense_variant,p.Pro47Leu,ENST00000375671,;							MODERATE	140/423		YT011_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000364822					1	
PCDHA3	0	LGGM	GRCh37	5	140182958	140182958	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	27	4	.	.	ENST00000522353.2:c.2176C>T	p.Pro726Ser	p.P726S	ENST00000522353	NM_018906.2	726	Ccg/Tcg	0	1	1	UPI00001273CB	0	NA	ENST00000522353		ENSG00000255408	8669		31	1.865		HGNC	p.P726S		PCDHA3		SNV							ENST00000532566	protein_coding	getma.org/?cm=var&var=hg19,5,140182958,C,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93		P/S		T	low	2176/5260		getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=671&re=797&var=P726S	tolerated_low_confidence(0.15)				YES	PCDHA3,missense_variant,p.Pro726Ser,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Pro726Ser,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;							MODERATE	2176/2853	P726S	PCDA3_HUMAN			Transcript		benign(0.069)	.	ENSP00000429808		CCDS54915.1			1	
METTL14	0	LGGM	GRCh37	4	119612718	119612718	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	9	4	.	.	ENST00000388822.5:c.275A>G	p.Asn92Ser	p.N92S	ENST00000388822		92	aAt/aGt	0	1	1	UPI00000437DD	0	NA	ENST00000388822		ENSG00000145388	29330		13	0.55		HGNC	p.N92S	rs779437245	METTL14		SNV							ENST00000388822	protein_coding	getma.org/?cm=var&var=hg19,4,119612718,A,G&fts=all		PROSITE_profiles:PS51592,hmmpanther:PTHR13107,hmmpanther:PTHR13107:SF0		N/S		G	neutral	442/6669	1.84E-05	getma.org/?cm=msa&ty=f&p=MET14_HUMAN&rb=1&re=200&var=N92S	tolerated(0.23)	B4DJF7_HUMAN			YES	METTL14,missense_variant,p.Asn92Ser,ENST00000388822,;METTL14,missense_variant,p.Asn54Ser,ENST00000506780,NM_020961.2;METTL14,downstream_gene_variant,,ENST00000508801,;METTL14,upstream_gene_variant,,ENST00000502564,;							MODERATE	275/1371	N92S	MET14_HUMAN			Transcript		benign(0.003)	.	ENSP00000373474	8.25E-06	CCDS34053.1			1	
RSPH6A	0	LGGM	GRCh37	19	46318146	46318146	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	14	4	.	.	ENST00000221538.3:c.289G>C	p.Glu97Gln	p.E97Q	ENST00000221538	NM_030785.3	97	Gag/Cag	0	1	1	UPI0000037C58	0	NA	ENST00000221538		ENSG00000104941	14241		18	1.1		HGNC	p.E97Q		RSPH6A		SNV							ENST00000597055	protein_coding	getma.org/?cm=var&var=hg19,19,46318146,C,G&fts=all				E/Q		G	low	432/2456		getma.org/?cm=msa&ty=f&p=RSH6A_HUMAN&rb=1&re=194&var=E97Q	tolerated_low_confidence(0.14)	M0R103_HUMAN			YES	RSPH6A,missense_variant,p.Glu97Gln,ENST00000221538,NM_030785.3;RSPH6A,missense_variant,p.Glu97Gln,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,;							MODERATE	289/2154	E97Q	RSH6A_HUMAN			Transcript		benign(0.037)	.	ENSP00000221538		CCDS12675.1			1	
KHNYN	0	LGGM	GRCh37	14	24901773	24901773	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	16	4	.	.	ENST00000251343.5:c.1306G>T	p.Asp436Tyr	p.D436Y	ENST00000251343		436	Gac/Tac	0	1	1	UPI000000CC1F	0	getma.org/pdb.php?prot=KHNYN_HUMAN&from=436&to=589&var=D436Y	ENST00000251343		ENSG00000100441	20166		20	1.245		HGNC	p.D436Y		KHNYN		SNV							ENST00000553935	protein_coding	getma.org/?cm=var&var=hg19,14,24901773,G,T&fts=all		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28		D/Y		T	low	1445/6225		getma.org/?cm=msa&ty=f&p=KHNYN_HUMAN&rb=436&re=589&var=D436Y	deleterious(0.01)	G3V3G3_HUMAN,G3V331_HUMAN			YES	KHNYN,missense_variant,p.Asp436Tyr,ENST00000251343,;KHNYN,missense_variant,p.Asp436Tyr,ENST00000553935,NM_015299.2;KHNYN,missense_variant,p.Asp436Tyr,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,;							MODERATE	1306/2037	D436Y	KHNYN_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000251343		CCDS32058.1			1	
KRT8	0	LGGM	GRCh37	12	53295723	53295723	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	59	4	.	.	ENST00000552150.1:c.542C>T	p.Thr181Ile	p.T181I	ENST00000552150	NM_001256282.1	181	aCt/aTt	0	1		UPI0000161B3E	0	getma.org/pdb.php?prot=K2C8_HUMAN&from=90&to=401&var=T153I	ENST00000293308		ENSG00000170421	6446		63	1.81		HGNC	p.T193I		KRT8		SNV			1				ENST00000548998	protein_coding	getma.org/?cm=var&var=hg19,12,53295723,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF104,Superfamily_domains:SSF64593		T/I		A	low	549/1777		getma.org/?cm=msa&ty=f&p=K2C8_HUMAN&rb=90&re=401&var=T153I		Q969I0_HUMAN,Q7L4M3_HUMAN,F8VUG2_HUMAN,F8VRG4_HUMAN,F8VP67_HUMAN				KRT8,missense_variant,p.Thr153Ile,ENST00000552551,;KRT8,missense_variant,p.Thr153Ile,ENST00000293308,NM_002273.3;KRT8,missense_variant,p.Thr153Ile,ENST00000546897,NM_001256293.1;KRT8,missense_variant,p.Thr181Ile,ENST00000552150,NM_001256282.1;KRT8,missense_variant,p.Thr153Ile,ENST00000546826,;KRT8,missense_variant,p.Thr193Ile,ENST00000548998,;KRT8,missense_variant,p.Thr153Ile,ENST00000547413,;KRT8,missense_variant,p.Thr36Ile,ENST00000546900,;KRT8,synonymous_variant,p.=,ENST00000547176,;KRT8,downstream_gene_variant,,ENST00000546542,;KRT8,non_coding_transcript_exon_variant,,ENST00000546583,;KRT8,non_coding_transcript_exon_variant,,ENST00000550170,;KRT8,non_coding_transcript_exon_variant,,ENST00000549176,;KRT8,upstream_gene_variant,,ENST00000547031,;							MODERATE	458/1452	T153I	K2C8_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000293308		CCDS8841.1			1	
E2F4	0	LGGM	GRCh37	16	67226975	67226975	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	0	5	.	.	ENST00000379378.3:c.309G>A	p.Glu103=	p.E103=	ENST00000379378	NM_001950.3	103	gaG/gaA	0	1	1	UPI000002EFCB	0		ENST00000379378		ENSG00000205250	3118		5			HGNC	p.E103E		E2F4		SNV							ENST00000379378	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF42,Low_complexity_(Seg):seg,Superfamily_domains:SSF144074		E		A		368/2096							YES	E2F4,synonymous_variant,p.=,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,;E2F4,3_prime_UTR_variant,,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,intron_variant,,ENST00000568839,;E2F4,intron_variant,,ENST00000569573,;EXOC3L1,upstream_gene_variant,,ENST00000564324,;E2F4,upstream_gene_variant,,ENST00000567228,;E2F4,upstream_gene_variant,,ENST00000568693,;E2F4,downstream_gene_variant,,ENST00000566368,;							LOW	309/1242		E2F4_HUMAN			Transcript			.	ENSP00000368686		CCDS32464.1			1	
NLRP11	0	LGGM	GRCh37	19	56329455	56329455	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	48	5	.	.	ENST00000443188.1:c.86A>G	p.Tyr29Cys	p.Y29C	ENST00000443188	NM_145007.3	29	tAt/tGt	0	1		UPI000013ED9D	0	NA	ENST00000589093		ENSG00000179873	22945		53	0.69		HGNC	p.Y29C		NLRP11		SNV							ENST00000593244	protein_coding	getma.org/?cm=var&var=hg19,19,56329455,T,C&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62,Superfamily_domains:SSF47986		Y/C		C	neutral	180/3417		getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=7&re=87&var=Y29C	tolerated(0.2)	K7ESF9_HUMAN				NLRP11,missense_variant,p.Tyr29Cys,ENST00000443188,NM_145007.3;NLRP11,missense_variant,p.Tyr29Cys,ENST00000360133,;NLRP11,missense_variant,p.Tyr29Cys,ENST00000589093,;NLRP11,missense_variant,p.Tyr29Cys,ENST00000589824,;NLRP11,intron_variant,,ENST00000592953,;NLRP11,intron_variant,,ENST00000593208,;NLRP11,missense_variant,p.Tyr29Cys,ENST00000593244,;NLRP11,intron_variant,,ENST00000590409,;							MODERATE	86/3102	Y29C	NAL11_HUMAN			Transcript		benign(0.01)	.	ENSP00000466285		CCDS12935.1			1	
CACNB3	0	LGGM	GRCh37	12	49221656	49221656	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	10	5	.	.	ENST00000301050.2:c.1429C>A	p.Arg477=	p.R477=	ENST00000301050	NM_000725.3	477	Cgg/Agg	0	1	1	UPI000000D9BA	0		ENST00000301050		ENSG00000167535	1403		15			HGNC	p.R476R	rs531076421	CACNB3	6.16E-05	SNV							ENST00000536187	protein_coding		T:0	hmmpanther:PTHR11824		R		A		1628/2696				F8VUW8_HUMAN,F8VU10_HUMAN	T:0	T:0	YES	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,intron_variant,,ENST00000550190,;DDX23,downstream_gene_variant,,ENST00000308025,NM_004818.2;CACNB3,downstream_gene_variant,,ENST00000547818,;DDX23,downstream_gene_variant,,ENST00000550834,;CACNB3,downstream_gene_variant,,ENST00000550064,;CACNB3,downstream_gene_variant,,ENST00000548279,;CACNB3,downstream_gene_variant,,ENST00000550168,;CACNB3,downstream_gene_variant,,ENST00000552022,;CACNB3,downstream_gene_variant,,ENST00000549971,;CACNB3,3_prime_UTR_variant,,ENST00000551544,;CACNB3,non_coding_transcript_exon_variant,,ENST00000548860,;CACNB3,downstream_gene_variant,,ENST00000549226,;CACNB3,downstream_gene_variant,,ENST00000552480,;DDX23,downstream_gene_variant,,ENST00000552802,;CACNB3,downstream_gene_variant,,ENST00000550391,;DDX23,downstream_gene_variant,,ENST00000547290,;CACNB3,downstream_gene_variant,,ENST00000550483,;DDX23,downstream_gene_variant,,ENST00000551331,;CACNB3,downstream_gene_variant,,ENST00000550771,;CACNB3,downstream_gene_variant,,ENST00000548874,;DDX23,downstream_gene_variant,,ENST00000549795,;DDX23,downstream_gene_variant,,ENST00000547842,;CACNB3,downstream_gene_variant,,ENST00000551716,;CACNB3,downstream_gene_variant,,ENST00000547693,;DDX23,downstream_gene_variant,,ENST00000553065,;		T:0.0002					LOW	1429/1455		CACB3_HUMAN		T:0.001	Transcript			.	ENSP00000301050	8.24E-06	CCDS8769.1		T:0	1	
ZNF592	0	LGGM	GRCh37	15	85327322	85327322	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	2	5	.	.	ENST00000299927.3:c.1416G>T	p.Gly472=	p.G472=	ENST00000299927		472	ggG/ggT	0	1	1	UPI000013E5FC	0		ENST00000299927		ENSG00000166716	28986		7			HGNC	p.G472G	rs750571222	ZNF592		SNV			1				ENST00000560079	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199		G		T		1438/7861	7.56E-05						YES	ZNF592,synonymous_variant,p.=,ENST00000299927,;ZNF592,synonymous_variant,p.=,ENST00000560079,NM_014630.2;ZNF592,synonymous_variant,p.=,ENST00000559607,;							LOW	1416/3804		ZN592_HUMAN			Transcript			.	ENSP00000299927	4.12E-05	CCDS32317.1			1	
CNTN4	0	LGGM	GRCh37	3	2861249	2861249	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	5	.	.	ENST00000397461.1:c.438G>A	p.Pro146=	p.P146=	ENST00000397461	NM_001206955.1	146	ccG/ccA	0	1	1	UPI000007446C	0		ENST00000397461		ENSG00000144619	2174		25			HGNC	p.P146P	COSM3408572	CNTN4		SNV			1			1	ENST00000397461	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		A		822/5198				G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN			YES	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,;					1		LOW	438/3081		CNTN4_HUMAN			Transcript			.	ENSP00000380602		CCDS43041.1			1	
ADAM15	0	LGGM	GRCh37	1	155033903	155033903	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	16	6	.	.	ENST00000356955.2:c.2290C>G	p.Leu764Val	p.L764V	ENST00000356955	NM_207197.2	764	Ctc/Gtc	0	1	1	UPI000035CC78	0	NA	ENST00000356955		ENSG00000143537	193		22	0.695		HGNC	p.L763V		ADAM15		SNV							ENST00000449910	protein_coding	getma.org/?cm=var&var=hg19,1,155033903,C,G&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF130,Low_complexity_(Seg):seg		L/V		G	neutral	2391/2949		getma.org/?cm=msa&ty=f&p=ADA15_HUMAN&rb=630&re=829&var=L764V	tolerated(0.18)				YES	ADAM15,missense_variant,p.Leu764Val,ENST00000356955,NM_207197.2;ADAM15,missense_variant,p.Leu763Val,ENST00000449910,NM_207196.2;ADAM15,missense_variant,p.Leu764Val,ENST00000355956,NM_207194.2;ADAM15,synonymous_variant,p.=,ENST00000368412,NM_001261465.1;ADAM15,intron_variant,,ENST00000359280,NM_207195.2;ADAM15,intron_variant,,ENST00000271836,NM_003815.4,NM_001261464.1;ADAM15,intron_variant,,ENST00000360674,NM_207191.2;ADAM15,intron_variant,,ENST00000531455,;ADAM15,intron_variant,,ENST00000368410,;ADAM15,intron_variant,,ENST00000368413,;ADAM15,downstream_gene_variant,,ENST00000447332,NM_001261466.1;EFNA4,upstream_gene_variant,,ENST00000368409,NM_005227.2;EFNA4,upstream_gene_variant,,ENST00000359751,NM_182690.2,NM_182689.1;EFNA4,upstream_gene_variant,,ENST00000427683,;EFNA3,upstream_gene_variant,,ENST00000505139,;EFNA3,upstream_gene_variant,,ENST00000556931,;ADAM15,non_coding_transcript_exon_variant,,ENST00000472434,;ADAM15,non_coding_transcript_exon_variant,,ENST00000461234,;ADAM15,non_coding_transcript_exon_variant,,ENST00000462116,;ADAM15,intron_variant,,ENST00000474709,;ADAM15,downstream_gene_variant,,ENST00000487956,;ADAM15,downstream_gene_variant,,ENST00000468053,;ADAM15,missense_variant,p.Leu764Val,ENST00000526491,;ADAM15,non_coding_transcript_exon_variant,,ENST00000527418,;ADAM15,non_coding_transcript_exon_variant,,ENST00000461564,;ADAM15,non_coding_transcript_exon_variant,,ENST00000498481,;ADAM15,intron_variant,,ENST00000529473,;ADAM15,downstream_gene_variant,,ENST00000525020,;ADAM15,upstream_gene_variant,,ENST00000464824,;							MODERATE	2290/2592	L764V	ADA15_HUMAN			Transcript		benign(0.016)	.	ENSP00000349436		CCDS1087.1			1	
GPI	0	LGGM	GRCh37	19	34884961	34884961	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	12	6	.	.	ENST00000415930.3:c.1085A>C	p.Tyr362Ser	p.Y362S	ENST00000415930	NM_001184722.1	362	tAc/tCc	0	1		UPI0000111E50	0	getma.org/pdb.php?prot=G6PI_HUMAN&from=54&to=546&var=Y351S	ENST00000356487		ENSG00000105220	4458		18	4.165		HGNC	p.Y351S		GPI		SNV			1				ENST00000356487	protein_coding	getma.org/?cm=var&var=hg19,19,34884961,A,C&fts=all		PROSITE_profiles:PS51463,HAMAP:MF_00473,hmmpanther:PTHR11469:SF4,hmmpanther:PTHR11469,Gene3D:3.40.50.10490,Pfam_domain:PF00342,Superfamily_domains:SSF53697,Prints_domain:PR00662		Y/S		C	high	1293/2210		getma.org/?cm=msa&ty=f&p=G6PI_HUMAN&rb=54&re=546&var=Y351S	deleterious_low_confidence(0)	K7EP41_HUMAN				GPI,missense_variant,p.Tyr362Ser,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Tyr351Ser,ENST00000356487,NM_000175.3;GPI,missense_variant,p.Tyr366Ser,ENST00000588991,;GPI,missense_variant,p.Tyr351Ser,ENST00000586425,;RP11-618P17.4,upstream_gene_variant,,ENST00000592740,;GPI,non_coding_transcript_exon_variant,,ENST00000586392,;GPI,non_coding_transcript_exon_variant,,ENST00000589985,;GPI,upstream_gene_variant,,ENST00000586077,;							MODERATE	1052/1677	Y351S	G6PI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348877		CCDS12437.1			1	
LFNG	0	LGGM	GRCh37	7	2559840	2559840	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	3	6	.	.	ENST00000222725.5:c.345C>T	p.Val115=	p.V115=	ENST00000222725	NM_001040167.1	115	gtC/gtT	0	1	1	UPI000012E5D5	0		ENST00000222725		ENSG00000106003	6560		9			HGNC	p.V115V		LFNG		SNV			1				ENST00000359574	protein_coding			PIRSF_domain:PIRSF038073,Pfam_domain:PF02434,hmmpanther:PTHR10811,hmmpanther:PTHR10811:SF7		V		T		365/2377							YES	LFNG,synonymous_variant,p.=,ENST00000222725,NM_001040167.1;LFNG,synonymous_variant,p.=,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,;							LOW	345/1140		LFNG_HUMAN			Transcript			.	ENSP00000222725		CCDS34587.1			1	
OR5H2	0	LGGM	GRCh37	3	98001944	98001944	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	104	6	.	.	ENST00000355273.2:c.213A>G	p.Leu71=	p.L71=	ENST00000355273	NM_001005482.1	71	ttA/ttG	0	1	1	UPI0000041B67	0		ENST00000355273		ENSG00000197938	14752		110			HGNC	p.L71L	rs754473560	OR5H2		SNV				9.61E-05			ENST00000355273	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF277,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		G		213/945							YES	OR5H2,synonymous_variant,p.=,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;							LOW	213/945		OR5H2_HUMAN			Transcript			.	ENSP00000347418	8.24E-06	CCDS33801.1			1	
STIM2	0	LGGM	GRCh37	4	27000863	27000863	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	22	6	.	.	ENST00000465503.1:c.519G>A	p.Val173=	p.V173=	ENST00000465503		173	gtG/gtA	0	1		UPI000013CA13	0		ENST00000467087		ENSG00000109689	19205		28			HGNC	p.V173V		STIM2		SNV							ENST00000467087	protein_coding			PROSITE_profiles:PS50105,hmmpanther:PTHR15136:SF2,hmmpanther:PTHR15136,Pfam_domain:PF07647,Superfamily_domains:SSF47769		V		A		1047/5154				R4GNC5_HUMAN,R4GN82_HUMAN,R4GMP0_HUMAN,Q05BJ5_HUMAN				STIM2,synonymous_variant,p.=,ENST00000382009,NM_001169118.1;STIM2,synonymous_variant,p.=,ENST00000237364,;STIM2,synonymous_variant,p.=,ENST00000467087,NM_020860.3;STIM2,synonymous_variant,p.=,ENST00000467011,NM_001169117.1;STIM2,synonymous_variant,p.=,ENST00000412829,;STIM2,synonymous_variant,p.=,ENST00000465503,;STIM2,synonymous_variant,p.=,ENST00000463501,;STIM2,synonymous_variant,p.=,ENST00000494628,;STIM2,upstream_gene_variant,,ENST00000473519,;STIM2,downstream_gene_variant,,ENST00000478049,;							LOW	519/2241		STIM2_HUMAN			Transcript			.	ENSP00000419073		CCDS3440.2			1	
ANKRD30A	0	LGGM	GRCh37	10	37414903	37414903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	2	6	.	.	ENST00000361713.1:c.20C>T	p.Thr7Ile	p.T7I	ENST00000361713	NM_052997.2	7	aCc/aTc	0	1	1	UPI0000458879	0	getma.org/pdb.php?prot=AN30A_HUMAN&from=27&to=103&var=T63I	ENST00000361713		ENSG00000148513	17234		8	1.2		HGNC	p.T7I		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37414903,C,T&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		T/I		T	low	119/4405		getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=27&re=103&var=T63I	deleterious_low_confidence(0.05)	R4GNA2_HUMAN			YES	ANKRD30A,missense_variant,p.Thr7Ile,ENST00000374660,;ANKRD30A,missense_variant,p.Thr7Ile,ENST00000602533,;ANKRD30A,missense_variant,p.Thr7Ile,ENST00000361713,NM_052997.2;							MODERATE	20/4026	T63I	AN30A_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000354432		CCDS7193.1			1	
CRTC1	0	LGGM	GRCh37	19	18871022	18871022	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	4	6	.	.	ENST00000338797.6:c.918C>G	p.Ile306Met	p.I306M	ENST00000338797	NM_001098482.1	306	atC/atG	0	1		UPI0000140CBC	0	NA	ENST00000321949		ENSG00000105662	16062		10	2.36		HGNC	p.I215M		CRTC1		SNV							ENST00000601916	protein_coding	getma.org/?cm=var&var=hg19,19,18871022,C,G&fts=all		hmmpanther:PTHR13589:SF14,hmmpanther:PTHR13589,Pfam_domain:PF12885		I/M		G	medium	896/2501		getma.org/?cm=msa&ty=f&p=CRTC1_HUMAN&rb=148&re=295&var=I290M	deleterious(0)					CRTC1,missense_variant,p.Ile306Met,ENST00000338797,NM_001098482.1;CRTC1,missense_variant,p.Ile290Met,ENST00000321949,NM_015321.2;CRTC1,missense_variant,p.Ile249Met,ENST00000594658,;CRTC1,missense_variant,p.Ile215Met,ENST00000601916,;							MODERATE	870/1905	I290M	CRTC1_HUMAN			Transcript		possibly_damaging(0.806)	.	ENSP00000323332		CCDS32963.1			1	
ZEB2	0	LGGM	GRCh37	2	145147422	145147422	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	16	6	.	.	ENST00000558170.2:c.3241T>G	p.Cys1081Gly	p.C1081G	ENST00000558170	NM_014795.3	1081	Tgc/Ggc	0	1		UPI00001359A2	0	NA	ENST00000409487		ENSG00000169554	14881		22	2.125		HGNC	p.C1081G		ZEB2		SNV			1				ENST00000303660	protein_coding	getma.org/?cm=var&var=hg19,2,145147422,A,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2		C/G		C	medium	3429/5283		getma.org/?cm=msa&ty=f&p=ZEB2_HUMAN&rb=1067&re=1126&var=C1081G	deleterious(0)	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN				ZEB2,missense_variant,p.Cys1081Gly,ENST00000558170,NM_014795.3;ZEB2,missense_variant,p.Cys1081Gly,ENST00000409487,;ZEB2,missense_variant,p.Cys1057Gly,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Cys1081Gly,ENST00000303660,;ZEB2,intron_variant,,ENST00000419938,;							MODERATE	3241/3645	C1081G	ZEB2_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000386854		CCDS2186.1			1	
PKMYT1	0	LGGM	GRCh37	16	3025696	3025696	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	7	7	.	.	ENST00000262300.8:c.496C>T	p.Gln166Ter	p.Q166*	ENST00000262300	NM_001258450.1	166	Cag/Tag	0	1	1	UPI000004CF52	0	NA	ENST00000262300		ENSG00000127564	29650		14	0		HGNC	p.Q202X		PKMYT1		SNV							ENST00000574415	protein_coding	getma.org/?cm=var&var=hg19,16,3025696,G,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000567,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF73,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/*		A	NA	1005/2171		NA		Q0IJ49_HUMAN,I3L4Y0_HUMAN,I3L4K3_HUMAN,I3L1H7_HUMAN,I3L136_HUMAN			YES	PKMYT1,stop_gained,p.Gln166Ter,ENST00000431515,;PKMYT1,stop_gained,p.Gln166Ter,ENST00000262300,NM_001258450.1,NM_004203.4,NM_182687.2;PKMYT1,stop_gained,p.Gln166Ter,ENST00000440027,;PKMYT1,stop_gained,p.Gln157Ter,ENST00000574385,NM_001258451.1;PKMYT1,stop_gained,p.Gln157Ter,ENST00000573944,;PKMYT1,stop_gained,p.Gln97Ter,ENST00000574730,;PKMYT1,stop_gained,p.Gln157Ter,ENST00000576268,;PKMYT1,stop_gained,p.Gln202Ter,ENST00000574415,;PKMYT1,stop_gained,p.Gln166Ter,ENST00000575632,;PAQR4,downstream_gene_variant,,ENST00000318782,NM_152341.3,NM_001284513.1;PAQR4,downstream_gene_variant,,ENST00000293978,NM_001284511.1;PAQR4,downstream_gene_variant,,ENST00000572687,NM_001284512.1;PKMYT1,downstream_gene_variant,,ENST00000572059,;PAQR4,downstream_gene_variant,,ENST00000574988,;PAQR4,downstream_gene_variant,,ENST00000576565,;PKMYT1,upstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000572619,;PKMYT1,upstream_gene_variant,,ENST00000574333,;PKMYT1,stop_gained,p.Gln157Ter,ENST00000382240,;PKMYT1,upstream_gene_variant,,ENST00000575981,;PKMYT1,upstream_gene_variant,,ENST00000574680,;PKMYT1,downstream_gene_variant,,ENST00000570649,;PKMYT1,downstream_gene_variant,,ENST00000572658,;							HIGH	496/1500	Q166*	PMYT1_HUMAN			Transcript			.	ENSP00000262300		CCDS10486.1			1	
CLLU1	0	LGGM	GRCh37	12	92818672	92818672	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	4	7	.	.	ENST00000378485.1:c.216T>A	p.Ser72=	p.S72=	ENST00000378485	NM_001025233.1	72	tcT/tcA	0	1	1	UPI00004A1179	0		ENST00000378485		ENSG00000257127	29841		11			HGNC	p.S72S		CLLU1		SNV							ENST00000378485	protein_coding					S		A		938/3897							YES	CLLU1,synonymous_variant,p.=,ENST00000378485,NM_001025233.1;CLLU1OS,intron_variant,,ENST00000378487,NM_001025232.1;CLLU1OS,intron_variant,,ENST00000538965,;RP11-693J15.4,intron_variant,,ENST00000508671,;CLLU1,intron_variant,,ENST00000472839,;CLLU1,intron_variant,,ENST00000512817,;CLLU1,non_coding_transcript_exon_variant,,ENST00000586526,;CLLU1,downstream_gene_variant,,ENST00000589406,;							LOW	216/366		CLLU1_HUMAN			Transcript			.	ENSP00000367746					1	
HNRNPA0	0	LGGM	GRCh37	5	137088890	137088890	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	7	7	.	.	ENST00000314940.4:c.866C>A	p.Pro289His	p.P289H	ENST00000314940	NM_006805.3	289	cCt/cAt	0	1	1	UPI0000000C1D	0	NA	ENST00000314940		ENSG00000177733	5030		14	0		HGNC	p.P289H		HNRNPA0		SNV							ENST00000314940	protein_coding	getma.org/?cm=var&var=hg19,5,137088890,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24012		P/H		T	neutral	1150/2965		getma.org/?cm=msa&ty=f&p=ROA0_HUMAN&rb=272&re=302&var=P289H	deleterious(0.01)				YES	HNRNPA0,missense_variant,p.Pro289His,ENST00000314940,NM_006805.3;							MODERATE	866/918	P289H	ROA0_HUMAN			Transcript		unknown(0)	.	ENSP00000316042		CCDS4193.1			1	
ZC3HC1	0	LGGM	GRCh37	7	129663511	129663511	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	24	7	.	.	ENST00000358303.4:c.1073C>G	p.Ser358Cys	p.S358C	ENST00000358303	NM_016478.3	358	tCc/tGc	0	1	1	UPI000000D807	0	NA	ENST00000358303		ENSG00000091732	29913		31	1.79		HGNC	p.S337C		ZC3HC1		SNV							ENST00000311873	protein_coding	getma.org/?cm=var&var=hg19,7,129663511,G,C&fts=all		hmmpanther:PTHR15835		S/C		C	low	1158/1972		getma.org/?cm=msa&ty=f&p=NIPA_HUMAN&rb=345&re=502&var=S358C	tolerated(0.1)	F8WBD7_HUMAN			YES	ZC3HC1,missense_variant,p.Ser358Cys,ENST00000358303,NM_016478.3;ZC3HC1,missense_variant,p.Ser337Cys,ENST00000311873,NM_001282190.1;ZC3HC1,missense_variant,p.Ser315Cys,ENST00000481503,;ZC3HC1,intron_variant,,ENST00000360708,NM_001282191.1;RNA5SP245,upstream_gene_variant,,ENST00000364239,;RP11-306G20.1,intron_variant,,ENST00000587038,;RP11-306G20.1,intron_variant,,ENST00000480018,;ZC3HC1,3_prime_UTR_variant,,ENST00000467642,;ZC3HC1,non_coding_transcript_exon_variant,,ENST00000477578,;ZC3HC1,downstream_gene_variant,,ENST00000471022,;ZC3HC1,downstream_gene_variant,,ENST00000483827,;							MODERATE	1073/1509	S358C	NIPA_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000351052		CCDS34753.1			1	
RPS6KA1	0	LGGM	GRCh37	1	26885417	26885417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	6	7	.	.	ENST00000531382.1:c.1231T>A	p.Ser411Thr	p.S411T	ENST00000531382	NM_001006665.1	411	Tcg/Acg	0	1		UPI000012DB2C	0	NA	ENST00000374168		ENSG00000117676	10430		13	0.345		HGNC	p.S60T		RPS6KA1		SNV							ENST00000403732	protein_coding	getma.org/?cm=var&var=hg19,1,26885417,T,A&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351:SF43,hmmpanther:PTHR24351		S/T		A	neutral	1358/3186		getma.org/?cm=msa&ty=f&p=KS6A1_HUMAN&rb=386&re=417&var=S402T	tolerated(0.45)	E9PMM7_HUMAN				RPS6KA1,missense_variant,p.Ser402Thr,ENST00000374168,NM_002953.3;RPS6KA1,missense_variant,p.Ser391Thr,ENST00000374166,;RPS6KA1,missense_variant,p.Ser386Thr,ENST00000530003,;RPS6KA1,missense_variant,p.Ser310Thr,ENST00000526792,;RPS6KA1,missense_variant,p.Ser310Thr,ENST00000374162,;RPS6KA1,missense_variant,p.Ser411Thr,ENST00000531382,NM_001006665.1;RPS6KA1,missense_variant,p.Ser60Thr,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,;							MODERATE	1204/2208	S402T	KS6A1_HUMAN			Transcript		benign(0.145)	.	ENSP00000363283		CCDS284.1			1	
HABP4	0	LGGM	GRCh37	9	99250448	99250448	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	29	7	.	.	ENST00000375249.4:c.1077T>C	p.Ile359=	p.I359=	ENST00000375249	NM_014282.2	359	atT/atC	0	1	1	UPI000013E8DB	0		ENST00000375249		ENSG00000130956	17062		36			HGNC	p.I359I		HABP4		SNV							ENST00000375249	protein_coding			hmmpanther:PTHR12299,hmmpanther:PTHR12299:SF7		I		C		1152/2615				B3KNW5_HUMAN			YES	HABP4,synonymous_variant,p.=,ENST00000375249,NM_014282.2;HABP4,synonymous_variant,p.=,ENST00000375251,;HABP4,non_coding_transcript_exon_variant,,ENST00000466976,;CDC14B,downstream_gene_variant,,ENST00000474602,;							LOW	1077/1242		HABP4_HUMAN			Transcript			.	ENSP00000364398		CCDS6719.1			1	
KRT6C	0	LGGM	GRCh37	12	52863525	52863525	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	59	7	.	.	ENST00000252250.6:c.1353G>T	p.Leu451=	p.L451=	ENST00000252250	NM_173086.4	451	ctG/ctT	0	1	1	UPI00001AE73F	0		ENST00000252250		ENSG00000170465	20406		66			HGNC	p.L451L		KRT6C		SNV			1				ENST00000252250	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593		L		A		1401/2289							YES	KRT6C,synonymous_variant,p.=,ENST00000252250,NM_173086.4;KRT6C,downstream_gene_variant,,ENST00000553087,;							LOW	1353/1695		K2C6C_HUMAN			Transcript			.	ENSP00000252250		CCDS8829.1			1	
TMPRSS11F	0	LGGM	GRCh37	4	68930549	68930549	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	9	7	.	.	ENST00000356291.2:c.869A>T	p.Asn290Ile	p.N290I	ENST00000356291	NM_207407.2	290	aAt/aTt	0	1	1	UPI0000251DE7	0	getma.org/pdb.php?prot=TM11F_HUMAN&from=206&to=432&var=N290I	ENST00000356291		ENSG00000198092	29994		16	0.665		HGNC	p.N290I		TMPRSS11F		SNV							ENST00000356291	protein_coding	getma.org/?cm=var&var=hg19,4,68930549,T,A&fts=all		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,Prints_domain:PR00722		N/I		A	neutral	929/2088		getma.org/?cm=msa&ty=f&p=TM11F_HUMAN&rb=206&re=432&var=N290I	deleterious(0)				YES	TMPRSS11F,missense_variant,p.Asn290Ile,ENST00000356291,NM_207407.2;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000511571,;UBA6-AS1,intron_variant,,ENST00000499180,;SYT14L,upstream_gene_variant,,ENST00000600441,;SYT14L,upstream_gene_variant,,ENST00000419424,;SYT14L,upstream_gene_variant,,ENST00000481459,;							MODERATE	869/1317	N290I	TM11F_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000348639		CCDS3520.1			1	
SPDYE1	0	LGGM	GRCh37	7	44040797	44040797	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	49	7	.	.	ENST00000258704.3:c.173C>A	p.Thr58Lys	p.T58K	ENST00000258704	NM_175064.2	58	aCg/aAg	0	1	1	UPI000013CFF7	0	NA	ENST00000258704		ENSG00000136206	16408		56	1.65		HGNC	p.T58K		SPDYE1		SNV							ENST00000258704	protein_coding	getma.org/?cm=var&var=hg19,7,44040797,C,A&fts=all		hmmpanther:PTHR31156:SF12,hmmpanther:PTHR31156		T/K		A	low	310/2649		getma.org/?cm=msa&ty=f&p=SPDE1_HUMAN&rb=1&re=152&var=T58K	deleterious_low_confidence(0.02)				YES	SPDYE1,missense_variant,p.Thr58Lys,ENST00000258704,NM_175064.2,NM_001099435.2;AC004951.6,downstream_gene_variant,,ENST00000447643,;POLR2J4,intron_variant,,ENST00000427076,;RP5-1165K10.2,intron_variant,,ENST00000454572,;POLR2J4,intron_variant,,ENST00000422304,;							MODERATE	173/1011	T58K	SPDE1_HUMAN			Transcript		benign(0.223)	.	ENSP00000258704		CCDS5475.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20204413	20204413	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	21	8	.	.	ENST00000379565.3:c.845+1G>C		p.X282_splice	ENST00000379565	NM_004586.2			0	1	1	UPI000012DB2E	0		ENST00000379565		ENSG00000177189	10432		29			HGNC	-		RPS6KA3		SNV			1				ENST00000379565	protein_coding							G		-/7918				Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,splice_donor_variant,,ENST00000379565,NM_004586.2;RPS6KA3,splice_donor_variant,,ENST00000544447,;RPS6KA3,splice_donor_variant,,ENST00000540702,;RPS6KA3,splice_donor_variant,,ENST00000379548,;RPS6KA3,downstream_gene_variant,,ENST00000457145,;							HIGH	845/2223		KS6A3_HUMAN			Transcript			.	ENSP00000368884		CCDS14197.1			1	
ADRB3	0	LGGM	GRCh37	8	37823766	37823766	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	1	8	.	.	ENST00000345060.3:c.222G>T	p.Val74=	p.V74=	ENST00000345060	NM_000025.2	74	gtG/gtT	0	1	1	UPI0000047C3B	0		ENST00000345060		ENSG00000188778	288		9			HGNC	p.V74V		ADRB3		SNV							ENST00000345060	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF3,PROSITE_profiles:PS50262		V		A		718/2943				A8KAG8_HUMAN			YES	ADRB3,synonymous_variant,p.=,ENST00000345060,NM_000025.2;ADRB3,upstream_gene_variant,,ENST00000520341,;							LOW	222/1227		ADRB3_HUMAN			Transcript			.	ENSP00000343782		CCDS6099.1			1	
SFRP2	0	LGGM	GRCh37	4	154702695	154702695	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	8	.	.	ENST00000274063.4:c.796G>T	p.Gly266Trp	p.G266W	ENST00000274063	NM_003013.2	266	Ggg/Tgg	0	1	1	UPI000004BE89	0	NA	ENST00000274063		ENSG00000145423	10777		28	1.78		HGNC	p.G266W		SFRP2		SNV							ENST00000274063	protein_coding	getma.org/?cm=var&var=hg19,4,154702695,C,A&fts=all		PROSITE_profiles:PS50189,hmmpanther:PTHR11309:SF45,hmmpanther:PTHR11309,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242		G/W		A	low	1081/2032		getma.org/?cm=msa&ty=f&p=SFRP2_HUMAN&rb=187&re=288&var=G266W	deleterious(0)	B3KSM5_HUMAN			YES	SFRP2,missense_variant,p.Gly266Trp,ENST00000274063,NM_003013.2;							MODERATE	796/888	G266W	SFRP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274063		CCDS34082.1			1	
SFRP2	0	LGGM	GRCh37	4	154702694	154702694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	8	.	.	ENST00000274063.4:c.797G>T	p.Gly266Val	p.G266V	ENST00000274063	NM_003013.2	266	gGg/gTg	0	1	1	UPI000004BE89	0	NA	ENST00000274063		ENSG00000145423	10777		28	1.78		HGNC	p.G266V		SFRP2		SNV							ENST00000274063	protein_coding	getma.org/?cm=var&var=hg19,4,154702694,C,A&fts=all		PROSITE_profiles:PS50189,hmmpanther:PTHR11309:SF45,hmmpanther:PTHR11309,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242		G/V		A	low	1082/2032		getma.org/?cm=msa&ty=f&p=SFRP2_HUMAN&rb=187&re=288&var=G266V	deleterious(0)	B3KSM5_HUMAN			YES	SFRP2,missense_variant,p.Gly266Val,ENST00000274063,NM_003013.2;							MODERATE	797/888	G266V	SFRP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274063		CCDS34082.1			1	
C20orf78	0	LGGM	GRCh37	20	18805963	18805963	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	3	8	.	.	ENST00000278779.4:c.63C>A	p.Thr21=	p.T21=	ENST00000278779	NM_001242671.1	21	acC/acA	0	1	1	UPI00001285EC	0		ENST00000278779		ENSG00000149443	16210		11			HGNC	p.T21T		C20orf78		SNV							ENST00000278779	protein_coding					T		T		165/606							YES	C20orf78,synonymous_variant,p.=,ENST00000278779,NM_001242671.1;							LOW	63/456		CT078_HUMAN			Transcript			.	ENSP00000278779		CCDS56181.1			1	
FMO3	0	LGGM	GRCh37	1	171086512	171086512	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	32	8	.	.	ENST00000367755.4:c.1529T>G	p.Phe510Cys	p.F510C	ENST00000367755	NM_001002294.2	510	tTc/tGc	0	1	1	UPI000016A103	0	NA	ENST00000367755		ENSG00000007933	3771		40	0.69		HGNC	p.F490C		FMO3		SNV			1				ENST00000542847	protein_coding	getma.org/?cm=var&var=hg19,1,171086512,T,G&fts=all		Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR01123,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44,Transmembrane_helices:TMhelix		F/C		G	neutral	1640/2087		getma.org/?cm=msa&ty=f&p=FMO3_HUMAN&rb=2&re=532&var=F510C	tolerated(0.18)				YES	FMO3,missense_variant,p.Phe510Cys,ENST00000367755,NM_001002294.2;FMO3,missense_variant,p.Phe510Cys,ENST00000392085,NM_006894.5;FMO3,missense_variant,p.Phe490Cys,ENST00000542847,;FMO3,missense_variant,p.Phe447Cys,ENST00000538429,;							MODERATE	1529/1599	F510C	FMO3_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000356729		CCDS1292.1			1	
AKAP9	0	LGGM	GRCh37	7	91738031	91738031	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	6	9	.	.	ENST00000356239.3:c.11686+84T>G		*3896*	ENST00000356239	NM_147185.2			0	1	1	UPI000002A38D	0		ENST00000356239		ENSG00000127914	379		15			HGNC	p.X1770E		AKAP9		SNV			1				ENST00000394534	protein_coding							G		-/12471				Q8IW64_HUMAN			YES	AKAP9,stop_lost,p.Ter1770GluextTer10,ENST00000394534,;AKAP9,intron_variant,,ENST00000359028,;AKAP9,intron_variant,,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,intron_variant,,ENST00000358100,;CYP51A1,downstream_gene_variant,,ENST00000003100,NM_000786.3;CYP51A1,downstream_gene_variant,,ENST00000450723,NM_001146152.1;CYP51A1,downstream_gene_variant,,ENST00000422867,;AKAP9,intron_variant,,ENST00000486313,;LRRD1,downstream_gene_variant,,ENST00000422722,;AKAP9,intron_variant,,ENST00000487258,;AKAP9,downstream_gene_variant,,ENST00000463118,;AKAP9,downstream_gene_variant,,ENST00000493976,;CYP51A1,downstream_gene_variant,,ENST00000482924,;							MODIFIER	-/11724		AKAP9_HUMAN			Transcript			.	ENSP00000348573		CCDS5622.1			1	
NPAT	0	LGGM	GRCh37	11	108031804	108031804	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	19	9	.	.	ENST00000278612.8:c.4009A>C	p.Ile1337Leu	p.I1337L	ENST00000278612	NM_002519.2	1337	Att/Ctt	0	1	1	UPI00001FA306	0	NA	ENST00000278612		ENSG00000149308	7896		28	2.255		HGNC	p.I1337L		NPAT		SNV							ENST00000278612	protein_coding	getma.org/?cm=var&var=hg19,11,108031804,T,G&fts=all		hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087		I/L		G	medium	4115/6117		getma.org/?cm=msa&ty=f&p=NPAT_HUMAN&rb=692&re=1425&var=I1337L	deleterious(0)				YES	NPAT,missense_variant,p.Ile1337Leu,ENST00000278612,NM_002519.2;NPAT,downstream_gene_variant,,ENST00000527296,;NPAT,non_coding_transcript_exon_variant,,ENST00000530859,;NPAT,intron_variant,,ENST00000530926,;							MODERATE	4009/4284	I1337L	NPAT_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000278612		CCDS41710.1			1	
APOBEC3A	0	LGGM	GRCh37	22	39358124	39358124	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	46	9	.	.	ENST00000402255.1:c.491C>G	p.Thr164Ser	p.T164S	ENST00000402255		164	aCc/aGc	0	1		UPI00001318F4	0	getma.org/pdb.php?prot=ABC3A_HUMAN&from=133&to=187&var=T164S	ENST00000249116		ENSG00000128383	17343		55	2.72		HGNC	p.T164S		APOBEC3A		SNV							ENST00000402255	protein_coding	getma.org/?cm=var&var=hg19,22,39358124,C,G&fts=all		Pfam_domain:PF05240,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF14,Superfamily_domains:SSF53927		T/S		G	medium	661/1444		getma.org/?cm=msa&ty=f&p=ABC3A_HUMAN&rb=133&re=187&var=T164S	deleterious(0.02)					APOBEC3A,missense_variant,p.Thr164Ser,ENST00000402255,;APOBEC3A,missense_variant,p.Thr164Ser,ENST00000249116,NM_145699.3,NM_001270406.1;APOBEC3A,downstream_gene_variant,,ENST00000488758,;							MODERATE	491/600	T164S	ABC3A_HUMAN			Transcript		benign(0.141)	.	ENSP00000249116		CCDS13981.1			1	
CTR9	0	LGGM	GRCh37	11	10786176	10786176	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	16	9	.	.	ENST00000361367.2:c.1495A>G	p.Thr499Ala	p.T499A	ENST00000361367	NM_014633.3	499	Acg/Gcg	0	1	1	UPI000006F32A	0	NA	ENST00000361367		ENSG00000198730	16850		25	2.205		HGNC	p.T499A		CTR9		SNV							ENST00000361367	protein_coding	getma.org/?cm=var&var=hg19,11,10786176,A,G&fts=all		Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2,SMART_domains:SM00028,Superfamily_domains:SSF48452		T/A		G	medium	1921/4586		getma.org/?cm=msa&ty=f&p=CTR9_HUMAN&rb=498&re=530&var=T499A	tolerated(0.16)				YES	CTR9,missense_variant,p.Thr499Ala,ENST00000361367,NM_014633.3;CTR9,downstream_gene_variant,,ENST00000524523,;CTR9,upstream_gene_variant,,ENST00000529355,;CTR9,upstream_gene_variant,,ENST00000526874,;							MODERATE	1495/3522	T499A	CTR9_HUMAN			Transcript		benign(0.103)	.	ENSP00000355013		CCDS7805.1			1	
ZNF678	0	LGGM	GRCh37	1	227843485	227843485	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	55	9	.	.	ENST00000343776.5:c.1534A>G	p.Thr512Ala	p.T512A	ENST00000343776	NM_178549.3	512	Act/Gct	0	1	1	UPI000019862A	0	getma.org/pdb.php?prot=ZN678_HUMAN&from=501&to=525&var=T512A	ENST00000343776		ENSG00000181450	28652		64	2.405		HGNC	p.T512A		ZNF678		SNV							ENST00000343776	protein_coding	getma.org/?cm=var&var=hg19,1,227843485,A,G&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24409		T/A		G	medium	1879/8556		getma.org/?cm=msa&ty=f&p=ZN678_HUMAN&rb=471&re=525&var=T512A	deleterious(0.05)				YES	ZNF678,missense_variant,p.Thr512Ala,ENST00000343776,NM_178549.3;ZNF678,missense_variant,p.Thr567Ala,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,;ZNF678,downstream_gene_variant,,ENST00000465266,;							MODERATE	1534/1578	T512A	ZN678_HUMAN			Transcript		benign(0.01)	.	ENSP00000344828					1	
CD1D	0	LGGM	GRCh37	1	158152850	158152850	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	62	9	.	.	ENST00000368171.3:c.790C>A	p.Arg264=	p.R264=	ENST00000368171	NM_001766.3	264	Cga/Aga	0	1	1	UPI00000012B1	0		ENST00000368171		ENSG00000158473	1637		71			HGNC	p.R264R		CD1D		SNV							ENST00000368171	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,SMART_domains:SM00407,Superfamily_domains:SSF48726		R		A		1289/2253							YES	CD1D,synonymous_variant,p.=,ENST00000368171,NM_001766.3;							LOW	790/1008		CD1D_HUMAN			Transcript			.	ENSP00000357153		CCDS1173.1			1	
NR2C2	0	LGGM	GRCh37	3	15084479	15084479	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	13	9	.	.	ENST00000323373.6:c.1812A>G	p.Ala604=	p.A604=	ENST00000323373	NM_003298.3	604	gcA/gcG	0	1		UPI0000047515	0		ENST00000393102		ENSG00000177463	7972		22			HGNC	p.A604A		NR2C2		SNV							ENST00000323373	protein_coding			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF48		A		G		1880/1937				C9JMI6_HUMAN				NR2C2,synonymous_variant,p.=,ENST00000425241,;NR2C2,synonymous_variant,p.=,ENST00000323373,NM_003298.3;NR2C2,synonymous_variant,p.=,ENST00000393102,;NR2C2,synonymous_variant,p.=,ENST00000406272,;NR2C2,intron_variant,,ENST00000439011,;NR2C2,intron_variant,,ENST00000413194,;NR2C2,non_coding_transcript_exon_variant,,ENST00000478572,;MRPS25,non_coding_transcript_exon_variant,,ENST00000496484,;MRPS25,downstream_gene_variant,,ENST00000474866,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;NR2C2,downstream_gene_variant,,ENST00000495282,;							LOW	1755/1791		NR2C2_HUMAN			Transcript			.	ENSP00000376814					1	
ZNF236	0	LGGM	GRCh37	18	74617262	74617262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	9	.	.	ENST00000253159.8:c.2182T>A	p.Leu728Ile	p.L728I	ENST00000253159	NM_007345.3	728	Tta/Ata	0	1	1	UPI0000F6DCCB	0	getma.org/pdb.php?prot=ZN236_HUMAN&from=727&to=752&var=L728I	ENST00000253159		ENSG00000130856	13028		29	3.435		HGNC	p.L728I		ZNF236		SNV							ENST00000253159	protein_coding	getma.org/?cm=var&var=hg19,18,74617262,T,A&fts=all		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		L/I		A	medium	2380/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=707&re=772&var=L728I	deleterious(0.01)				YES	ZNF236,missense_variant,p.Leu728Ile,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Leu730Ile,ENST00000320610,;ZNF236,missense_variant,p.Leu728Ile,ENST00000543926,;							MODERATE	2182/5538	L728I	ZN236_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000253159		CCDS42447.1			1	
R3HDM2	0	LGGM	GRCh37	12	57648588	57648588	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	15	9	.	.	ENST00000347140.3:c.2899C>A	p.Leu967Met	p.L967M	ENST00000347140		967	Ctg/Atg	0	1	1	UPI00005A60D3	0	NA	ENST00000347140		ENSG00000179912	29167		24	1.245		HGNC	p.L967M		R3HDM2		SNV							ENST00000347140	protein_coding	getma.org/?cm=var&var=hg19,12,57648588,G,T&fts=all		hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672		L/M		T	low	3290/4331		getma.org/?cm=msa&ty=f&p=R3HD2_HUMAN&rb=852&re=976&var=L967M	tolerated(0.06)	C9J7N6_HUMAN			YES	R3HDM2,missense_variant,p.Leu981Met,ENST00000402412,;R3HDM2,missense_variant,p.Leu967Met,ENST00000347140,;R3HDM2,missense_variant,p.Leu967Met,ENST00000358907,NM_014925.3;R3HDM2,missense_variant,p.Leu1001Met,ENST00000403821,;R3HDM2,missense_variant,p.Leu732Met,ENST00000429355,;R3HDM2,missense_variant,p.Leu662Met,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,;							MODERATE	2899/2931	L967M	R3HD2_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000317903		CCDS8937.2			1	
CAMTA1	0	LGGM	GRCh37	1	7723582	7723582	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	18	9	.	.	ENST00000303635.7:c.975G>A	p.Lys325=	p.K325=	ENST00000303635	NM_015215.2	325	aaG/aaA	0	1	1	UPI00001C1D72	0		ENST00000303635		ENSG00000171735	18806		27			HGNC	p.K325K	rs779986948	CAMTA1		SNV			1	9.66E-05			ENST00000303635	protein_coding			hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Low_complexity_(Seg):seg		K		A		1182/8444	3.05E-05						YES	CAMTA1,synonymous_variant,p.=,ENST00000303635,NM_015215.2;CAMTA1,synonymous_variant,p.=,ENST00000439411,;							LOW	975/5022		CMTA1_HUMAN			Transcript			.	ENSP00000306522	2.47E-05	CCDS30576.1			1	
NR4A3	0	LGGM	GRCh37	9	102595579	102595579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	29	10	.	.	ENST00000330847.1:c.1130G>T	p.Ser377Ile	p.S377I	ENST00000330847		377	aGt/aTt	0	1		UPI000013CA3D	0	getma.org/pdb.php?prot=NR4A3_HUMAN&from=360&to=420&var=S366I	ENST00000395097		ENSG00000119508	7982		39	1.625		HGNC	p.S377I		NR4A3		SNV			1				ENST00000330847	protein_coding	getma.org/?cm=var&var=hg19,9,102595579,G,T&fts=all		Gene3D:1.10.565.10,Prints_domain:PR01284,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF2,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716		S/I		T	low	1826/3794		getma.org/?cm=msa&ty=f&p=NR4A3_HUMAN&rb=360&re=420&var=S366I	deleterious(0)					NR4A3,missense_variant,p.Ser377Ile,ENST00000330847,;NR4A3,missense_variant,p.Ser366Ile,ENST00000395097,NM_173200.2,NM_006981.3;NR4A3,missense_variant,p.Ser366Ile,ENST00000338488,NM_173199.2;							MODERATE	1097/1881	S366I	NR4A3_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000378531		CCDS6743.1			1	
LY9	0	LGGM	GRCh37	1	160788042	160788042	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	28	10	.	.	ENST00000263285.6:c.1377G>T	p.Leu459Phe	p.L459F	ENST00000263285		459	ttG/ttT	0	1	1	UPI00001416AF	0	NA	ENST00000263285		ENSG00000122224	6730		38	1.385		HGNC	p.L419F		LY9		SNV							ENST00000368037	protein_coding	getma.org/?cm=var&var=hg19,1,160788042,G,T&fts=all		hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF14,Transmembrane_helices:TMhelix		L/F		T	low	1407/2443		getma.org/?cm=msa&ty=f&p=LY9_HUMAN&rb=432&re=631&var=L459F	deleterious(0.03)				YES	LY9,missense_variant,p.Leu459Phe,ENST00000368037,NM_001261456.1,NM_002348.3;LY9,missense_variant,p.Leu459Phe,ENST00000263285,;LY9,missense_variant,p.Leu111Phe,ENST00000368040,;LY9,missense_variant,p.Leu369Phe,ENST00000392203,NM_001261457.1;LY9,missense_variant,p.Leu329Phe,ENST00000368041,;LY9,missense_variant,p.Leu369Phe,ENST00000341032,;LY9,missense_variant,p.Leu182Phe,ENST00000368035,;LY9,downstream_gene_variant,,ENST00000471816,;LY9,downstream_gene_variant,,ENST00000480837,;LY9,downstream_gene_variant,,ENST00000479663,;							MODERATE	1377/1968	L459F	LY9_HUMAN			Transcript		benign(0.346)	.	ENSP00000263285		CCDS30916.1			1	
ZC3H18	0	LGGM	GRCh37	16	88697617	88697617	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	10	10	.	.	ENST00000301011.5:c.2772G>T	p.Thr924=	p.T924=	ENST00000301011	NM_144604.3	924	acG/acT	0	1	1	UPI00001FF676	0		ENST00000301011		ENSG00000158545	25091		20			HGNC	p.T167T		ZC3H18		SNV							ENST00000565583	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10		T		T		2972/3729				H3BRH3_HUMAN,B3KRL4_HUMAN			YES	ZC3H18,synonymous_variant,p.=,ENST00000301011,NM_144604.3;ZC3H18,synonymous_variant,p.=,ENST00000452588,;ZC3H18,synonymous_variant,p.=,ENST00000565583,;ZC3H18,intron_variant,,ENST00000564341,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566496,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566317,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566660,;ZC3H18,downstream_gene_variant,,ENST00000564161,;							LOW	2772/2862		ZCH18_HUMAN			Transcript			.	ENSP00000301011		CCDS10967.1			1	
EPPK1	0	LGGM	GRCh37	8	144940396	144940396	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	204	10	.	.	ENST00000525985.1:c.7026G>C	p.Gln2342His	p.Q2342H	ENST00000525985	NM_031308.2	2342	caG/caC	0	1	1	UPI00006C0DF1	0	getma.org/pdb.php?prot=EPIPL_HUMAN&from=2336&to=2380&var=Q2342H	ENST00000525985		ENSG00000227184	15577		214	3.64		HGNC	p.Q2342H		EPPK1		SNV							ENST00000525985	protein_coding	getma.org/?cm=var&var=hg19,8,144940396,C,G&fts=all		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399		Q/H		G	high	7098/7997		getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=2336&re=2380&var=Q2342H		E9PPU0_HUMAN			YES	EPPK1,missense_variant,p.Gln2342His,ENST00000525985,NM_031308.2;							MODERATE	7026/7263	Q2342H				Transcript		probably_damaging(0.998)	.	ENSP00000436337					1	
AKAP9	0	LGGM	GRCh37	7	91738016	91738016	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	7	10	.	.	ENST00000356239.3:c.11686+69T>G		*3896*	ENST00000356239	NM_147185.2			0	1	1	UPI000002A38D	0		ENST00000356239		ENSG00000127914	379		17			HGNC	p.F1765V		AKAP9		SNV			1				ENST00000394534	protein_coding							G		-/12471				Q8IW64_HUMAN			YES	AKAP9,missense_variant,p.Phe1765Val,ENST00000394534,;AKAP9,intron_variant,,ENST00000359028,;AKAP9,intron_variant,,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,intron_variant,,ENST00000358100,;CYP51A1,downstream_gene_variant,,ENST00000003100,NM_000786.3;CYP51A1,downstream_gene_variant,,ENST00000450723,NM_001146152.1;CYP51A1,downstream_gene_variant,,ENST00000422867,;AKAP9,intron_variant,,ENST00000486313,;LRRD1,downstream_gene_variant,,ENST00000422722,;AKAP9,intron_variant,,ENST00000487258,;AKAP9,downstream_gene_variant,,ENST00000463118,;AKAP9,downstream_gene_variant,,ENST00000493976,;CYP51A1,downstream_gene_variant,,ENST00000482924,;							MODIFIER	-/11724		AKAP9_HUMAN			Transcript			.	ENSP00000348573		CCDS5622.1			1	
DIABLO	0	LGGM	GRCh37	12	122701323	122701323	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	32	10	.	.	ENST00000443649.3:c.409A>G	p.Ile137Val	p.I137V	ENST00000443649	NM_019887.5	137	Ata/Gta	0	1	1	UPI0000000CBE	0	getma.org/pdb.php?prot=DBLOH_HUMAN&from=6&to=239&var=I137V	ENST00000443649		ENSG00000184047	21528		42	1.735		HGNC	p.I84V	rs771868678	DIABLO		SNV			1				ENST00000267169	protein_coding	getma.org/?cm=var&var=hg19,12,122701323,T,C&fts=all		Superfamily_domains:SSF46984,Gene3D:1.20.58.70,Pfam_domain:PF09057,hmmpanther:PTHR32247		I/V		C	low	1227/2250	1.50E-05	getma.org/?cm=msa&ty=f&p=DBLOH_HUMAN&rb=6&re=239&var=I137V	tolerated(0.14)	F5H796_HUMAN,F5H0Q4_HUMAN,F5GYH3_HUMAN,F5GX50_HUMAN			YES	DIABLO,missense_variant,p.Ile84Val,ENST00000464942,NM_001278304.1;DIABLO,missense_variant,p.Ile137Val,ENST00000443649,NM_019887.5;DIABLO,missense_variant,p.Ile93Val,ENST00000413918,;DIABLO,missense_variant,p.Ile93Val,ENST00000353548,NM_001278342.1;DIABLO,missense_variant,p.Ile84Val,ENST00000267169,NM_138930.3;DIABLO,missense_variant,p.Ile64Val,ENST00000474004,;DIABLO,missense_variant,p.Ile64Val,ENST00000541656,;DIABLO,missense_variant,p.Ile64Val,ENST00000540535,;DIABLO,missense_variant,p.Ile33Val,ENST00000439489,;DIABLO,missense_variant,p.Ile136Val,ENST00000446652,;DIABLO,missense_variant,p.Ile64Val,ENST00000485724,;DIABLO,missense_variant,p.Ile40Val,ENST00000541273,;RP11-512M8.5,3_prime_UTR_variant,,ENST00000535844,;DIABLO,3_prime_UTR_variant,,ENST00000342392,;DIABLO,non_coding_transcript_exon_variant,,ENST00000489781,;							MODERATE	409/720	I137V	DBLOH_HUMAN			Transcript		benign(0.358)	.	ENSP00000398495	8.24E-06	CCDS9228.1			1	
PEAR1	0	LGGM	GRCh37	1	156879578	156879578	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	15	10	.	.	ENST00000338302.3:c.1447C>G	p.Pro483Ala	p.P483A	ENST00000338302		483	Ccc/Gcc	0	1		UPI000045889A	0	getma.org/pdb.php?prot=PEAR1_HUMAN&from=435&to=550&var=P483A	ENST00000292357		ENSG00000187800	33631		25	1.005		HGNC	p.P483A		PEAR1		SNV							ENST00000338302	protein_coding	getma.org/?cm=var&var=hg19,1,156879578,C,G&fts=all		hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF9,SMART_domains:SM00180		P/A		G	low	1563/4866		getma.org/?cm=msa&ty=f&p=PEAR1_HUMAN&rb=435&re=550&var=P483A	tolerated(0.19)	A6PVP2_HUMAN				PEAR1,missense_variant,p.Pro483Ala,ENST00000338302,;PEAR1,missense_variant,p.Pro483Ala,ENST00000292357,NM_001080471.1;PEAR1,downstream_gene_variant,,ENST00000455314,;PEAR1,non_coding_transcript_exon_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000465101,;PEAR1,downstream_gene_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000482505,;							MODERATE	1447/3114	P483A	PEAR1_HUMAN			Transcript		benign(0.009)	.	ENSP00000292357		CCDS30892.1			1	
ZSWIM5	0	LGGM	GRCh37	1	45484774	45484774	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	19	11	.	.	ENST00000359600.5:c.2910T>C	p.Leu970=	p.L970=	ENST00000359600	NM_020883.1	970	ctT/ctC	0	1	1	UPI00001C1D76	0		ENST00000359600		ENSG00000162415	29299		30			HGNC	p.L970L		ZSWIM5		SNV							ENST00000359600	protein_coding			hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2		L		G		3116/5819							YES	ZSWIM5,synonymous_variant,p.=,ENST00000359600,NM_020883.1;UROD,downstream_gene_variant,,ENST00000246337,NM_000374.4;UROD,downstream_gene_variant,,ENST00000428106,;UROD,downstream_gene_variant,,ENST00000434478,;UROD,downstream_gene_variant,,ENST00000494399,;UROD,downstream_gene_variant,,ENST00000469548,;UROD,downstream_gene_variant,,ENST00000486699,;UROD,downstream_gene_variant,,ENST00000472254,;UROD,downstream_gene_variant,,ENST00000462688,;UROD,downstream_gene_variant,,ENST00000491300,;UROD,downstream_gene_variant,,ENST00000490385,;UROD,downstream_gene_variant,,ENST00000478467,;UROD,downstream_gene_variant,,ENST00000460906,;UROD,downstream_gene_variant,,ENST00000496439,;UROD,downstream_gene_variant,,ENST00000465678,;UROD,downstream_gene_variant,,ENST00000466193,;							LOW	2910/3558		ZSWM5_HUMAN			Transcript			.	ENSP00000352614		CCDS41319.1			1	
PEX5L	0	LGGM	GRCh37	3	179597772	179597772	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	30	11	.	.	ENST00000467460.1:c.450T>C	p.Asp150=	p.D150=	ENST00000467460	NM_001256751.1	150	gaT/gaC	0	1	1	UPI0000049CE2	0		ENST00000467460		ENSG00000114757	30024		41			HGNC	p.D139D		PEX5L		SNV							ENST00000469198	protein_coding			hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130		D		G		781/9082				C9JZE2_HUMAN,C9IZ09_HUMAN			YES	PEX5L,synonymous_variant,p.=,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,synonymous_variant,p.=,ENST00000485199,NM_001256752.1;PEX5L,synonymous_variant,p.=,ENST00000263962,NM_001256750.1;PEX5L,synonymous_variant,p.=,ENST00000476138,NM_001256754.1;PEX5L,synonymous_variant,p.=,ENST00000472994,NM_001256753.1;PEX5L,synonymous_variant,p.=,ENST00000465751,;PEX5L,synonymous_variant,p.=,ENST00000463761,;PEX5L,synonymous_variant,p.=,ENST00000469198,;PEX5L,5_prime_UTR_variant,,ENST00000468741,NM_001256756.1;PEX5L,5_prime_UTR_variant,,ENST00000491640,;PEX5L,intron_variant,,ENST00000392649,;PEX5L,intron_variant,,ENST00000464614,NM_001256755.1;PEX5L,intron_variant,,ENST00000496721,;PEX5L-AS1,intron_variant,,ENST00000466064,;PEX5L,non_coding_transcript_exon_variant,,ENST00000487198,;PEX5L,intron_variant,,ENST00000467440,;							LOW	450/1881		PEX5R_HUMAN			Transcript			.	ENSP00000419975		CCDS3236.1			1	
LRTOMT	0	LGGM	GRCh37	11	71804655	71804655	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	11	.	.	ENST00000435085.1:c.-208G>C		*70*	ENST00000435085	NM_001145309.3			0	1		UPI0000034CBC	0	getma.org/pdb.php?prot=LRC51_HUMAN&from=1&to=192&var=D66H	ENST00000289488		ENSG00000184154	25033		31	1.46		HGNC	p.D48H		LRTOMT		SNV			1				ENST00000423494	protein_coding	getma.org/?cm=var&var=hg19,11,71804655,G,C&fts=all		Superfamily_domains:0046394,Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR21651		D/H		C	low	574/2332		getma.org/?cm=msa&ty=f&p=LRC51_HUMAN&rb=1&re=192&var=D66H	deleterious(0.04)	F5H0M6_HUMAN,F5GYI0_HUMAN,B0AZV1_HUMAN				LRTOMT,missense_variant,p.Asp66His,ENST00000324866,;LRTOMT,missense_variant,p.Asp66His,ENST00000289488,NM_001271471.2,NM_145309.5;LRTOMT,missense_variant,p.Asp48His,ENST00000423494,NM_001205138.3;LRTOMT,missense_variant,p.Asp66His,ENST00000447974,NM_001145307.4;LRTOMT,missense_variant,p.Asp66His,ENST00000538413,;LRTOMT,missense_variant,p.Asp66His,ENST00000538478,;LRTOMT,missense_variant,p.Asp66His,ENST00000439209,;LRTOMT,missense_variant,p.Asp66His,ENST00000541614,;LRTOMT,missense_variant,p.Asp66His,ENST00000536917,;LRTOMT,missense_variant,p.Asp66His,ENST00000542846,;LRTOMT,5_prime_UTR_variant,,ENST00000435085,NM_001145309.3;LRTOMT,5_prime_UTR_variant,,ENST00000419228,NM_001145310.3;LRTOMT,5_prime_UTR_variant,,ENST00000307198,NM_001145308.4;LRTOMT,5_prime_UTR_variant,,ENST00000539271,;LAMTOR1,intron_variant,,ENST00000545249,;LRTOMT,intron_variant,,ENST00000539587,;LAMTOR1,downstream_gene_variant,,ENST00000538404,;LAMTOR1,downstream_gene_variant,,ENST00000278671,NM_017907.2;LAMTOR1,downstream_gene_variant,,ENST00000544594,;LAMTOR1,downstream_gene_variant,,ENST00000535107,;LRTOMT,downstream_gene_variant,,ENST00000537483,;LRTOMT,upstream_gene_variant,,ENST00000440313,;LAMTOR1,downstream_gene_variant,,ENST00000539797,;LRTOMT,missense_variant,p.Asp66His,ENST00000427369,;LRTOMT,missense_variant,p.Asp66His,ENST00000544409,;LRTOMT,3_prime_UTR_variant,,ENST00000535883,;LRTOMT,non_coding_transcript_exon_variant,,ENST00000412777,;LAMTOR1,downstream_gene_variant,,ENST00000535872,;LAMTOR1,downstream_gene_variant,,ENST00000541403,;							MODERATE	196/579	D66H	LRC51_HUMAN			Transcript		benign(0.197)	.	ENSP00000289488		CCDS8208.1			1	
NOL11	0	LGGM	GRCh37	17	65730492	65730492	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	37	11	.	.	ENST00000253247.4:c.867A>G	p.Val289=	p.V289=	ENST00000253247	NM_015462.3	289	gtA/gtG	0	1	1	UPI0000072B83	0		ENST00000253247		ENSG00000130935	24557		48			HGNC	p.V289V	COSM193836	NOL11		SNV						1	ENST00000253247	protein_coding			hmmpanther:PTHR15633,hmmpanther:PTHR15633:SF2,Superfamily_domains:SSF50978		V		G		982/2947							YES	NOL11,synonymous_variant,p.=,ENST00000253247,NM_015462.3;NOL11,synonymous_variant,p.=,ENST00000535137,;NOL11,intron_variant,,ENST00000580833,;NOL11,3_prime_UTR_variant,,ENST00000581375,;NOL11,upstream_gene_variant,,ENST00000583108,;NOL11,upstream_gene_variant,,ENST00000577687,;					1		LOW	867/2160		NOL11_HUMAN			Transcript			.	ENSP00000253247		CCDS11671.1			1	
MAGEL2	0	LGGM	GRCh37	15	23889693	23889693	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	12	.	.	ENST00000532292.1:c.1388A>G	p.Asn463Ser	p.N463S	ENST00000532292	NM_019066.4	463	aAc/aGc	0	1	1	UPI00005A89F6	0	getma.org/pdb.php?prot=MAGL2_HUMAN&from=307&to=477&var=N346S	ENST00000532292		ENSG00000254585	6814		23	-1.24		HGNC	p.N463S		MAGEL2		SNV			1				ENST00000532292	protein_coding	getma.org/?cm=var&var=hg19,15,23889693,T,C&fts=all		Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66,PROSITE_profiles:PS50838		N/S		C	neutral	1483/2485		getma.org/?cm=msa&ty=f&p=MAGL2_HUMAN&rb=307&re=477&var=N346S	tolerated(0.69)	Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN			YES	MAGEL2,missense_variant,p.Asn463Ser,ENST00000532292,NM_019066.4;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;							MODERATE	1388/1941	N346S				Transcript		benign(0.106)	.	ENSP00000433433					1	
KCNJ2	0	LGGM	GRCh37	17	68171943	68171943	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	43	12	.	.	ENST00000243457.3:c.763G>C	p.Asp255His	p.D255H	ENST00000243457	NM_000891.2	255	Gac/Cac	0	1	1	UPI000004F21A	0	getma.org/pdb.php?prot=IRK2_HUMAN&from=48&to=382&var=D255H	ENST00000243457		ENSG00000123700	6263		55	3.075		HGNC	p.D255H		KCNJ2		SNV			1				ENST00000535240	protein_coding	getma.org/?cm=var&var=hg19,17,68171943,G,C&fts=all		hmmpanther:PTHR11767:SF43,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296		D/H		C	medium	1146/5392		getma.org/?cm=msa&ty=f&p=IRK2_HUMAN&rb=48&re=382&var=D255H	deleterious(0)				YES	KCNJ2,missense_variant,p.Asp255His,ENST00000243457,NM_000891.2;KCNJ2,missense_variant,p.Asp255His,ENST00000535240,;							MODERATE	763/1284	D255H	IRK2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000243457		CCDS11688.1			1	
ZNF347	0	LGGM	GRCh37	19	53645233	53645233	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	75	12	.	.	ENST00000452676.2:c.851A>G	p.His284Arg	p.H284R	ENST00000452676	NM_001172674.1	284	cAt/cGt	0	1		UPI000049DED1	0	getma.org/pdb.php?prot=ZN347_HUMAN&from=275&to=300&var=H283R	ENST00000334197		ENSG00000197937	16447	8.64E-05	87	3.515		HGNC	p.H284R	rs373127311	ZNF347		SNV	G:0						ENST00000452676	protein_coding	getma.org/?cm=var&var=hg19,19,53645233,T,C&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95,PROSITE_profiles:PS50157		H/R	G:0.0001	C	high	917/4193		getma.org/?cm=msa&ty=f&p=ZN347_HUMAN&rb=255&re=320&var=H283R	deleterious(0)	M0R1E9_HUMAN,M0QZE2_HUMAN,M0QXR8_HUMAN				ZNF347,missense_variant,p.His284Arg,ENST00000452676,NM_001172674.1;ZNF347,missense_variant,p.His283Arg,ENST00000334197,NM_032584.2;ZNF347,missense_variant,p.His284Arg,ENST00000601469,NM_001172675.1;ZNF347,intron_variant,,ENST00000601804,;ZNF347,downstream_gene_variant,,ENST00000595967,;ZNF347,downstream_gene_variant,,ENST00000597183,;							MODERATE	848/2520	H283R	ZN347_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000334146	8.24E-06	CCDS33097.1			1	
BORA	0	LGGM	GRCh37	13	73329322	73329322	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	12	.	.	ENST00000390667.5:c.1648A>C	p.Thr550Pro	p.T550P	ENST00000390667	NM_024808.2	550	Aca/Cca	0	1	1	UPI0000224003	0	NA	ENST00000390667		ENSG00000136122	24724		23	1.59		HGNC	p.T480P		BORA		SNV							ENST00000377815	protein_coding	getma.org/?cm=var&var=hg19,13,73329322,A,C&fts=all		hmmpanther:PTHR14728:SF1,hmmpanther:PTHR14728		T/P		C	low	1745/2759		getma.org/?cm=msa&ty=f&p=BORA_HUMAN&rb=347&re=557&var=T550P	deleterious_low_confidence(0.02)	B5LMG6_HUMAN			YES	BORA,missense_variant,p.Thr550Pro,ENST00000390667,NM_024808.2,NM_001286746.1;BORA,missense_variant,p.Thr480Pro,ENST00000377815,NM_001286747.1;DIS3,downstream_gene_variant,,ENST00000377767,NM_014953.3;DIS3,downstream_gene_variant,,ENST00000377780,NM_001128226.1;DIS3,downstream_gene_variant,,ENST00000545453,;DIS3,downstream_gene_variant,,ENST00000469339,;DIS3,downstream_gene_variant,,ENST00000490646,;							MODERATE	1648/1680	T550P	BORA_HUMAN			Transcript		benign(0.261)	.	ENSP00000375082		CCDS9446.1			1	
KAT8	0	LGGM	GRCh37	16	31142549	31142549	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	10	12	.	.	ENST00000448516.2:c.*236A>C		*79*	ENST00000448516	NM_182958.2			0	1		UPI000004FA7B	0	getma.org/pdb.php?prot=KAT8_HUMAN&from=401&to=458&var=K449T	ENST00000219797		ENSG00000103510	17933		22	1.955		HGNC	p.K449T		KAT8		SNV							ENST00000219797	protein_coding	getma.org/?cm=var&var=hg19,16,31142549,A,C&fts=all		hmmpanther:PTHR10615		K/T		C	medium	1364/1525		getma.org/?cm=msa&ty=f&p=KAT8_HUMAN&rb=401&re=458&var=K449T	deleterious(0.04)					KAT8,missense_variant,p.Lys449Thr,ENST00000543774,;KAT8,missense_variant,p.Lys449Thr,ENST00000219797,NM_032188.2;KAT8,3_prime_UTR_variant,,ENST00000448516,NM_182958.2;KAT8,3_prime_UTR_variant,,ENST00000537402,;PRSS8,downstream_gene_variant,,ENST00000317508,NM_002773.3;PRSS8,downstream_gene_variant,,ENST00000568261,;PRSS8,downstream_gene_variant,,ENST00000567531,;PRSS8,downstream_gene_variant,,ENST00000567797,;RP11-388M20.2,upstream_gene_variant,,ENST00000563605,;KAT8,non_coding_transcript_exon_variant,,ENST00000538768,;KAT8,non_coding_transcript_exon_variant,,ENST00000573144,;PRSS8,downstream_gene_variant,,ENST00000567833,;PRSS8,downstream_gene_variant,,ENST00000564025,;							MODERATE	1346/1377	K449T	KAT8_HUMAN			Transcript		benign(0.005)	.	ENSP00000219797		CCDS10706.1			1	
EBF1	0	LGGM	GRCh37	5	158267119	158267119	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	80	13	.	.	ENST00000313708.6:c.555-1G>C		p.X185_splice	ENST00000313708	NM_024007.3			0	1	1	UPI000000D95E	0		ENST00000313708		ENSG00000164330	3126		93			HGNC	-		EBF1		SNV							ENST00000313708	protein_coding							G		-/5250							YES	EBF1,splice_acceptor_variant,,ENST00000313708,NM_024007.3;EBF1,splice_acceptor_variant,,ENST00000380654,;EBF1,splice_acceptor_variant,,ENST00000517373,;EBF1,splice_acceptor_variant,,ENST00000518836,;EBF1,splice_acceptor_variant,,ENST00000523464,;EBF1,splice_acceptor_variant,,ENST00000519739,;EBF1,splice_acceptor_variant,,ENST00000519890,;EBF1,splice_acceptor_variant,,ENST00000522192,;							HIGH	555/1776		COE1_HUMAN			Transcript			.	ENSP00000322898		CCDS4343.1			1	
FSIP2	0	LGGM	GRCh37	2	186657948	186657948	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	91	13	.	.	ENST00000343098.5:c.6352C>G	p.His2118Asp	p.H2118D	ENST00000343098	NM_173651.2	2118	Cat/Gat	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		104	0		HGNC	p.H2029D		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186657948,C,G&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		H/D		G	neutral	6085/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=483&re=3510&var=H2029D						FSIP2,missense_variant,p.His2118Asp,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.His2029Asp,ENST00000424728,;AC008174.3,intron_variant,,ENST00000436557,;AC008174.3,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;							MODERATE	6085/20724	H2029D	FSIP2_HUMAN			Transcript		benign(0.013)	.	ENSP00000401306					1	
TLN2	0	LGGM	GRCh37	15	63111772	63111772	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	16	13	.	.	ENST00000561311.1:c.6829G>C	p.Val2277Leu	p.V2277L	ENST00000561311		2277	Gtc/Ctc	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=2175&to=2341&var=V2277L	ENST00000306829		ENSG00000171914	15447		29	2.71		HGNC	p.V2277L		TLN2		SNV							ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,63111772,G,C&fts=all		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15		V/L		C	medium	6829/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=2175&re=2341&var=V2277L	deleterious(0.01)					TLN2,missense_variant,p.Val2277Leu,ENST00000561311,;TLN2,missense_variant,p.Val2277Leu,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.Val1191Leu,ENST00000494733,;MIR190A,upstream_gene_variant,,ENST00000388402,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;							MODERATE	6829/7629	V2277L	TLN2_HUMAN			Transcript		benign(0.019)	.	ENSP00000303476		CCDS32261.1			1	
SAE1	0	LGGM	GRCh37	19	47646856	47646856	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	14	13	.	.	ENST00000270225.7:c.204C>T	p.His68=	p.H68=	ENST00000270225	NM_005500.2	68	caC/caT	0	1	1	UPI0000037725	0		ENST00000270225		ENSG00000142230	30660		27			HGNC	p.H68H	rs754278107	SAE1	6.06E-05	SNV							ENST00000392776	protein_coding			Superfamily_domains:SSF69572,Pfam_domain:PF00899,Gene3D:3.40.50.720,hmmpanther:PTHR10953:SF142,hmmpanther:PTHR10953		H		T		272/2049				M0R286_HUMAN,M0R054_HUMAN,M0QYP2_HUMAN,M0QYM8_HUMAN			YES	SAE1,synonymous_variant,p.=,ENST00000413379,NM_001145713.1;SAE1,synonymous_variant,p.=,ENST00000270225,NM_005500.2;SAE1,synonymous_variant,p.=,ENST00000392776,NM_001145714.1;SAE1,synonymous_variant,p.=,ENST00000598840,;SAE1,synonymous_variant,p.=,ENST00000600706,;SAE1,synonymous_variant,p.=,ENST00000594144,;SAE1,synonymous_variant,p.=,ENST00000594526,;SAE1,synonymous_variant,p.=,ENST00000597808,;SAE1,5_prime_UTR_variant,,ENST00000540850,;SAE1,intron_variant,,ENST00000600753,;SAE1,synonymous_variant,p.=,ENST00000414294,;SAE1,3_prime_UTR_variant,,ENST00000596995,;							LOW	204/1041		SAE1_HUMAN			Transcript			.	ENSP00000270225	8.24E-06	CCDS12696.1			1	
EDC4	0	LGGM	GRCh37	16	67913369	67913369	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	8	13	.	.	ENST00000358933.5:c.1596G>T	p.Val532=	p.V532=	ENST00000358933	NM_014329.4	532	gtG/gtT	0	1	1	UPI0000141377	0		ENST00000358933		ENSG00000038358	17157		21			HGNC	p.V532V		EDC4		SNV							ENST00000358933	protein_coding			hmmpanther:PTHR15598		V		T		1835/4800							YES	EDC4,synonymous_variant,p.=,ENST00000358933,NM_014329.4;EDC4,upstream_gene_variant,,ENST00000577105,;EDC4,upstream_gene_variant,,ENST00000575033,;EDC4,upstream_gene_variant,,ENST00000573985,;CTC-479C5.10,upstream_gene_variant,,ENST00000572067,;AC040162.1,downstream_gene_variant,,ENST00000408599,;EDC4,intron_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000536072,;EDC4,non_coding_transcript_exon_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575514,;EDC4,upstream_gene_variant,,ENST00000576972,;EDC4,upstream_gene_variant,,ENST00000577028,;EDC4,upstream_gene_variant,,ENST00000575507,;EDC4,upstream_gene_variant,,ENST00000572724,;							LOW	1596/4206		EDC4_HUMAN			Transcript			.	ENSP00000351811		CCDS10849.1			1	
ANK3	0	LGGM	GRCh37	10	61831897	61831897	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	17	13	.	.	ENST00000280772.2:c.8742A>C	p.Ser2914=	p.S2914=	ENST00000280772	NM_020987.3	2914	tcA/tcC	0	1	1	UPI0000141BA9	0		ENST00000280772		ENSG00000151150	494		30			HGNC	p.S2914S	COSM4014932	ANK3		SNV			1			1	ENST00000280772	protein_coding			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		S		G		8934/16874				D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	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,;					1		LOW	8742/13134		ANK3_HUMAN			Transcript			.	ENSP00000280772		CCDS7258.1			1	
IGLV3-16	0	LGGM	GRCh37	22	23090183	23090183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	29	14	.	.	ENST00000390311.2:c.122G>T	p.Cys41Phe	p.C41F	ENST00000390311		41	tGc/tTc	0	1	1	UPI0000EE5A3C	0		ENST00000390311		ENSG00000211665	5901		43			HGNC	p.C41F		IGLV3-16		SNV							ENST00000390311	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF51,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		C/F		T		160/375			deleterious(0)				YES	IGLV3-16,missense_variant,p.Cys41Phe,ENST00000390311,;							MODERATE	122/337					Transcript		probably_damaging(0.966)	.	ENSP00000374846					1	
ARHGEF17	0	LGGM	GRCh37	11	73020575	73020575	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	9	14	.	.	ENST00000263674.3:c.892G>A	p.Gly298Arg	p.G298R	ENST00000263674	NM_014786.3	298	Gga/Aga	0	1	1	UPI000004980B	0	NA	ENST00000263674		ENSG00000110237	21726		23	0.805		HGNC	p.G298R		ARHGEF17		SNV							ENST00000263674	protein_coding	getma.org/?cm=var&var=hg19,11,73020575,G,A&fts=all		Low_complexity_(Seg):seg		G/R		A	low	1242/7853		getma.org/?cm=msa&ty=f&p=ARHGH_HUMAN&rb=150&re=349&var=G298R	tolerated_low_confidence(0.17)				YES	ARHGEF17,missense_variant,p.Gly298Arg,ENST00000263674,NM_014786.3;ARHGEF17,upstream_gene_variant,,ENST00000544519,;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,;							MODERATE	892/6192	G298R	ARHGH_HUMAN			Transcript		benign(0.003)	.	ENSP00000263674		CCDS8221.1			1	
COL7A1	0	LGGM	GRCh37	3	48613103	48613103	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	13	14	.	.	ENST00000328333.8:c.5935G>T	p.Gly1979Cys	p.G1979C	ENST00000328333	NM_000094.3	1979	Ggc/Tgc	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		27	3.32		HGNC	p.G1979C		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48613103,C,A&fts=all		hmmpanther:PTHR24023		G/C		A	medium	6043/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=1977&re=2049&var=G1979C					YES	COL7A1,missense_variant,p.Gly1979Cys,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Gly1947Cys,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;MIR711,downstream_gene_variant,,ENST00000390201,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000462475,;							MODERATE	5935/8835	G1979C	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
OGDH	0	LGGM	GRCh37	7	44746884	44746884	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	20	15	.	.	ENST00000222673.5:c.2693T>G	p.Val898Gly	p.V898G	ENST00000222673	NM_002541.3	898	gTc/gGc	0	1	1	UPI000006D5FE	0	getma.org/pdb.php?prot=ODO1_HUMAN&from=867&to=1023&var=V898G	ENST00000222673		ENSG00000105953	8124		35	3.805		HGNC	p.V748G		OGDH		SNV							ENST00000439616	protein_coding	getma.org/?cm=var&var=hg19,7,44746884,T,G&fts=all		PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152		V/G		G	high	2735/4181		getma.org/?cm=msa&ty=f&p=ODO1_HUMAN&rb=867&re=1023&var=V898G	deleterious(0)	C9J4G7_HUMAN			YES	OGDH,missense_variant,p.Val898Gly,ENST00000222673,NM_002541.3;OGDH,missense_variant,p.Val894Gly,ENST00000449767,NM_001165036.1;OGDH,missense_variant,p.Val909Gly,ENST00000447398,;OGDH,missense_variant,p.Val913Gly,ENST00000444676,;OGDH,missense_variant,p.Val849Gly,ENST00000543843,;OGDH,missense_variant,p.Val748Gly,ENST00000439616,;							MODERATE	2693/3072	V898G	ODO1_HUMAN			Transcript		benign(0.305)	.	ENSP00000222673		CCDS34627.1			1	
NUTM2G	0	LGGM	GRCh37	9	99694523	99694523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	85	15	.	.	ENST00000372322.3:c.536C>A	p.Pro179Gln	p.P179Q	ENST00000372322	NM_001170741.1	179	cCa/cAa	0	1	1	UPI000175026B	0	NA	ENST00000372322		ENSG00000188152	23449		100	2.19		HGNC	p.P179Q		NUTM2G		SNV							ENST00000372322	protein_coding	getma.org/?cm=var&var=hg19,9,99694523,C,A&fts=all		hmmpanther:PTHR22879:SF12,hmmpanther:PTHR22879,Pfam_domain:PF12881		P/Q		A	medium	557/2516		getma.org/?cm=msa&ty=f&p=FA22G_HUMAN&rb=8&re=329&var=P179Q	tolerated(0.16)				YES	NUTM2G,missense_variant,p.Pro179Gln,ENST00000354649,NM_001045477.2;NUTM2G,missense_variant,p.Pro179Gln,ENST00000372322,NM_001170741.1;HIATL2,intron_variant,,ENST00000506067,;							MODERATE	536/2226	P179Q	NTM2G_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000361397		CCDS55329.1			1	
PDZRN4	0	LGGM	GRCh37	12	41903702	41903702	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	31	15	.	.	ENST00000402685.2:c.1190A>G	p.Asp397Gly	p.D397G	ENST00000402685	NM_001164595.1	397	gAc/gGc	0	1	1	UPI0000D621D0	0	NA	ENST00000402685		ENSG00000165966	30552		46	1.355		HGNC	p.D139G		PDZRN4		SNV							ENST00000539469	protein_coding	getma.org/?cm=var&var=hg19,12,41903702,A,G&fts=all		hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545		D/G		G	low	1198/3347		getma.org/?cm=msa&ty=f&p=PZRN4_HUMAN&rb=312&re=401&var=D397G	tolerated(0.11)	B3KT02_HUMAN			YES	PDZRN4,missense_variant,p.Asp137Gly,ENST00000298919,;PDZRN4,missense_variant,p.Asp397Gly,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Asp139Gly,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							MODERATE	1190/3111	D397G	PZRN4_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000384197		CCDS53777.1			1	
COPA	0	LGGM	GRCh37	1	160305060	160305060	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	12	15	.	.	ENST00000368069.3:c.281A>G	p.Asp94Gly	p.D94G	ENST00000368069		94	gAt/gGt	0	1		UPI000013CAD9	0	getma.org/pdb.php?prot=COPA_HUMAN&from=83&to=121&var=D94G	ENST00000241704		ENSG00000122218	2230		27	0.7		HGNC	p.D94G		COPA		SNV							ENST00000368069	protein_coding	getma.org/?cm=var&var=hg19,1,160305060,T,C&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF003354,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/G		C	neutral	511/4789		getma.org/?cm=msa&ty=f&p=COPA_HUMAN&rb=83&re=121&var=D94G	deleterious(0.01)					COPA,missense_variant,p.Asp94Gly,ENST00000241704,NM_004371.3,NM_001098398.1;COPA,missense_variant,p.Asp94Gly,ENST00000368069,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;COPA,downstream_gene_variant,,ENST00000545266,;							MODERATE	281/3675	D94G	COPA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000241704		CCDS1202.1			1	
AKAP8	0	LGGM	GRCh37	19	15465763	15465763	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	14	15	.	.	ENST00000269701.2:c.2042C>G	p.Thr681Ser	p.T681S	ENST00000269701	NM_005858.3	681	aCt/aGt	0	1	1	UPI000012575C	0	NA	ENST00000269701		ENSG00000105127	378		29	0.895		HGNC	p.T681S		AKAP8		SNV							ENST00000269701	protein_coding	getma.org/?cm=var&var=hg19,19,15465763,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12190:SF5,hmmpanther:PTHR12190		T/S		C	low	2103/3670		getma.org/?cm=msa&ty=f&p=AKAP8_HUMAN&rb=553&re=690&var=T681S	tolerated_low_confidence(0.09)	Q9UG73_HUMAN			YES	AKAP8,missense_variant,p.Thr681Ser,ENST00000269701,NM_005858.3;AKAP8,3_prime_UTR_variant,,ENST00000598597,;							MODERATE	2042/2079	T681S	AKAP8_HUMAN			Transcript		benign(0.007)	.	ENSP00000269701		CCDS12329.1			1	
EYS	0	LGGM	GRCh37	6	65303140	65303140	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	2	15	.	.	ENST00000503581.1:c.3747C>A	p.Ile1249=	p.I1249=	ENST00000503581	NM_001142800.1	1249	atC/atA	0	1		UPI0001AE72B3	0		ENST00000370616		ENSG00000188107	21555		17			HGNC	p.I1249I		EYS		SNV			1				ENST00000370621	protein_coding			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		I		T		3747/9498								EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,;EYS,synonymous_variant,p.=,ENST00000370616,;EYS,non_coding_transcript_exon_variant,,ENST00000330816,;							LOW	3747/9498		EYS_HUMAN			Transcript			.	ENSP00000359650					1	
ZNF805	0	LGGM	GRCh37	19	57764967	57764967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	18	16	.	.	ENST00000414468.2:c.780G>T	p.Lys260Asn	p.K260N	ENST00000414468	NM_001023563.3	260	aaG/aaT	0	1	1	UPI000041AAAF	0	getma.org/pdb.php?prot=ZN805_HUMAN&from=245&to=270&var=K260N	ENST00000414468		ENSG00000204524	23272		34	2.18		HGNC	p.K260N		ZNF805		SNV							ENST00000414468	protein_coding	getma.org/?cm=var&var=hg19,19,57764967,G,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24384:SF89,hmmpanther:PTHR24384,PROSITE_profiles:PS50157		K/N		T	medium	780/1884		getma.org/?cm=msa&ty=f&p=ZN805_HUMAN&rb=225&re=290&var=K260N	deleterious(0.03)	B9EIQ3_HUMAN			YES	ZNF805,missense_variant,p.Lys127Asn,ENST00000535550,NM_001145078.1;ZNF805,missense_variant,p.Lys127Asn,ENST00000354309,NM_001145078.1;ZNF805,missense_variant,p.Lys260Asn,ENST00000414468,NM_001023563.3;							MODERATE	780/1884	K260N	ZN805_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000412999		CCDS46207.1			1	
RUNX1T1	0	LGGM	GRCh37	8	93026858	93026858	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	51	16	.	.	ENST00000436581.2:c.450C>A	p.Asp150Glu	p.D150E	ENST00000436581		150	gaC/gaA	0	1		UPI000012F7B4	0	getma.org/pdb.php?prot=MTG8_HUMAN&from=120&to=215&var=D139E	ENST00000265814		ENSG00000079102	1535		67	0.895		HGNC	p.D102E		RUNX1T1		SNV			1				ENST00000360348	protein_coding	getma.org/?cm=var&var=hg19,8,93026858,G,T&fts=all		Superfamily_domains:SSF158553,SMART_domains:SM00549,Pfam_domain:PF07531,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5,PROSITE_profiles:PS51119		D/E		T	low	501/3217		getma.org/?cm=msa&ty=f&p=MTG8_HUMAN&rb=120&re=215&var=D139E	deleterious(0)	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				RUNX1T1,missense_variant,p.Asp139Glu,ENST00000523629,NM_175634.2,NM_001198633.1,NM_001198630.1,NM_001198626.1;RUNX1T1,missense_variant,p.Asp112Glu,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Asp139Glu,ENST00000265814,NM_001198628.1,NM_001198631.1,NM_001198629.1;RUNX1T1,missense_variant,p.Asp112Glu,ENST00000518844,NM_001198627.1,NM_001198625.1;RUNX1T1,missense_variant,p.Asp102Glu,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Asp102Glu,ENST00000360348,NM_175635.2,NM_001198632.1;RUNX1T1,missense_variant,p.Asp102Glu,ENST00000520724,NM_001198679.1,NM_001198634.1;RUNX1T1,missense_variant,p.Asp150Glu,ENST00000436581,;RUNX1T1,missense_variant,p.Asp102Glu,ENST00000521553,;RUNX1T1,missense_variant,p.Asp139Glu,ENST00000519847,;RUNX1T1,missense_variant,p.Asp139Glu,ENST00000518992,;RUNX1T1,missense_variant,p.Asp139Glu,ENST00000522467,;RUNX1T1,missense_variant,p.Asp102Glu,ENST00000521054,;RUNX1T1,missense_variant,p.Asp102Glu,ENST00000517792,;RUNX1T1,downstream_gene_variant,,ENST00000517919,;RUNX1T1,downstream_gene_variant,,ENST00000521319,;RUNX1T1,downstream_gene_variant,,ENST00000521375,;RUNX1T1,downstream_gene_variant,,ENST00000518832,;RUNX1T1,downstream_gene_variant,,ENST00000520556,;RUNX1T1,downstream_gene_variant,,ENST00000518317,;RUNX1T1,downstream_gene_variant,,ENST00000520583,;RUNX1T1,downstream_gene_variant,,ENST00000521733,;RUNX1T1,downstream_gene_variant,,ENST00000520974,;RUNX1T1,downstream_gene_variant,,ENST00000518823,;RUNX1T1,downstream_gene_variant,,ENST00000523168,;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,non_coding_transcript_exon_variant,,ENST00000523290,;RUNX1T1,downstream_gene_variant,,ENST00000517493,;RUNX1T1,downstream_gene_variant,,ENST00000519422,;RUNX1T1,downstream_gene_variant,,ENST00000519577,;RUNX1T1,downstream_gene_variant,,ENST00000524215,;RUNX1T1,downstream_gene_variant,,ENST00000521897,;RUNX1T1,downstream_gene_variant,,ENST00000521902,;							MODERATE	417/1815	D139E	MTG8_HUMAN			Transcript		possibly_damaging(0.799)	.	ENSP00000265814		CCDS6256.1			1	
TNS3	0	LGGM	GRCh37	7	47333336	47333336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	21	16	.	.	ENST00000398879.1:c.3767A>G	p.Tyr1256Cys	p.Y1256C	ENST00000398879		1256	tAt/tGt	0	1		UPI00001AE9DA	0	getma.org/pdb.php?prot=TENS3_HUMAN&from=1172&to=1267&var=Y1256C	ENST00000311160		ENSG00000136205	21616		37	1.325		HGNC	p.Y1256C		TNS3		SNV							ENST00000398879	protein_coding	getma.org/?cm=var&var=hg19,7,47333336,T,C&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF41,SMART_domains:SM00252,Superfamily_domains:SSF55550		Y/C		C	low	4125/7618		getma.org/?cm=msa&ty=f&p=TENS3_HUMAN&rb=1172&re=1267&var=Y1256C	deleterious(0.02)	C9JWN9_HUMAN,C9JTD0_HUMAN				TNS3,missense_variant,p.Tyr1256Cys,ENST00000398879,;TNS3,missense_variant,p.Tyr1256Cys,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Tyr1016Cys,ENST00000355730,;							MODERATE	3767/4338	Y1256C	TENS3_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000312143		CCDS5506.2			1	
GOSR1	0	LGGM	GRCh37	17	28804473	28804473	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	16	.	.	ENST00000225724.5:c.22T>A	p.Tyr8Asn	p.Y8N	ENST00000225724	NM_001007024.1	8	Tac/Aac	0	1	1	UPI000012BB6B	0	NA	ENST00000225724		ENSG00000108587	4430		27	0.205		HGNC	p.Y8N		GOSR1		SNV							ENST00000427274	protein_coding	getma.org/?cm=var&var=hg19,17,28804473,T,A&fts=all		hmmpanther:PTHR21094,PIRSF_domain:PIRSF027109		Y/N		A	neutral	94/6039		getma.org/?cm=msa&ty=f&p=GOSR1_HUMAN&rb=1&re=160&var=Y8N	tolerated(0.28)	Q9BZZ3_HUMAN			YES	GOSR1,missense_variant,p.Tyr8Asn,ENST00000225724,NM_001007024.1,NM_001007025.1,NM_004871.2;GOSR1,missense_variant,p.Tyr8Asn,ENST00000451249,;GOSR1,missense_variant,p.Tyr8Asn,ENST00000581721,;GOSR1,synonymous_variant,p.=,ENST00000414833,;GOSR1,5_prime_UTR_variant,,ENST00000467337,;GOSR1,upstream_gene_variant,,ENST00000579905,;GOSR1,missense_variant,p.Tyr8Asn,ENST00000427274,;GOSR1,missense_variant,p.Tyr8Asn,ENST00000537788,;GOSR1,non_coding_transcript_exon_variant,,ENST00000491489,;GOSR1,non_coding_transcript_exon_variant,,ENST00000467635,;							MODERATE	22/753	Y8N	GOSR1_HUMAN			Transcript		benign(0.001)	.	ENSP00000225724		CCDS11258.1			1	
ZNF701	0	LGGM	GRCh37	19	53086619	53086619	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	43	16	.	.	ENST00000540331.1:c.1505A>C	p.Lys502Thr	p.K502T	ENST00000540331	NM_001172655.1	502	aAa/aCa	0	1		UPI0001C53D22	0	getma.org/pdb.php?prot=ZN701_HUMAN&from=424&to=449&var=K436T	ENST00000301093		ENSG00000167562	25597		59	2.3		HGNC	p.K436T		ZNF701		SNV							ENST00000391785	protein_coding	getma.org/?cm=var&var=hg19,19,53086619,A,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		K/T		C	medium	1540/2610		getma.org/?cm=msa&ty=f&p=ZN701_HUMAN&rb=404&re=465&var=K436T	deleterious(0.01)	M0R085_HUMAN,F5GZM6_HUMAN				ZNF701,missense_variant,p.Lys502Thr,ENST00000540331,NM_001172655.1;ZNF701,missense_variant,p.Lys436Thr,ENST00000391785,NM_018260.2;ZNF701,missense_variant,p.Lys502Thr,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;							MODERATE	1505/1596	K436T				Transcript		probably_damaging(0.995)	.	ENSP00000301093		CCDS54311.1			1	
ARSI	0	LGGM	GRCh37	5	149676841	149676841	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	41	16	.	.	ENST00000328668.7:c.1646A>G	p.Lys549Arg	p.K549R	ENST00000328668	NM_001012301.2	549	aAg/aGg	0	1	1	UPI000003FD83	0	NA	ENST00000328668		ENSG00000183876	32521		57	0.665		HGNC	p.K549R		ARSI		SNV			1				ENST00000328668	protein_coding	getma.org/?cm=var&var=hg19,5,149676841,T,C&fts=all		Low_complexity_(Seg):seg		K/R		C	neutral	2226/3161		getma.org/?cm=msa&ty=f&p=ARSI_HUMAN&rb=477&re=569&var=K549R	tolerated_low_confidence(0.3)	D6RDH0_HUMAN			YES	ARSI,missense_variant,p.Lys549Arg,ENST00000328668,NM_001012301.2;ARSI,missense_variant,p.Lys406Arg,ENST00000515301,;ARSI,downstream_gene_variant,,ENST00000509146,;							MODERATE	1646/1710	K549R	ARSI_HUMAN			Transcript		benign(0.003)	.	ENSP00000333395		CCDS34275.1			1	
PIK3C2G	0	LGGM	GRCh37	12	18715691	18715691	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	32	16	.	.	ENST00000266497.5:c.3522C>T	p.His1174=	p.H1174=	ENST00000266497		1174	caC/caT	0	1		UPI000013D6EF	0		ENST00000266497		ENSG00000139144	8973		48			HGNC	p.H1215H		PIK3C2G		SNV							ENST00000538779	protein_coding			PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF29,SMART_domains:SM00146		H		T		3560/4754								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;							LOW	3522/4338		P3C2G_HUMAN			Transcript			.	ENSP00000266497		CCDS44839.1			1	
SPSB2	0	LGGM	GRCh37	12	6981681	6981681	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	17	.	.	ENST00000524270.1:c.385G>T	p.Glu129Ter	p.E129*	ENST00000524270	NM_032641.3	129	Gag/Tag	0	1		UPI000003316E	0	NA	ENST00000523102		ENSG00000111671	29522		28	0		HGNC	p.E129X		SPSB2		SNV							ENST00000523102	protein_coding	getma.org/?cm=var&var=hg19,12,6981681,C,A&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF2,SMART_domains:SM00449,Superfamily_domains:SSF49899		E/*		A	NA	541/1205		NA		E5RIC2_HUMAN				SPSB2,stop_gained,p.Glu129Ter,ENST00000519357,;SPSB2,stop_gained,p.Glu129Ter,ENST00000524270,NM_032641.3;SPSB2,stop_gained,p.Glu129Ter,ENST00000523102,NM_001146316.1;TPI1,downstream_gene_variant,,ENST00000229270,NM_001159287.1;TPI1,downstream_gene_variant,,ENST00000535434,NM_001258026.1;LRRC23,upstream_gene_variant,,ENST00000433346,;TPI1,downstream_gene_variant,,ENST00000396705,NM_000365.5;TPI1,downstream_gene_variant,,ENST00000493987,;TPI1,downstream_gene_variant,,ENST00000495834,;TPI1,downstream_gene_variant,,ENST00000488464,;SPSB2,downstream_gene_variant,,ENST00000432205,;TPI1,downstream_gene_variant,,ENST00000462761,;RPL13P5,upstream_gene_variant,,ENST00000412023,;RPL13P5,upstream_gene_variant,,ENST00000421824,;LRRC23,upstream_gene_variant,,ENST00000449039,;RPL13P5,upstream_gene_variant,,ENST00000451612,;SPSB2,downstream_gene_variant,,ENST00000437851,;RPL13P5,upstream_gene_variant,,ENST00000274820,;TPI1,downstream_gene_variant,,ENST00000474253,;TPI1,downstream_gene_variant,,ENST00000482209,;							HIGH	385/792	E129*	SPSB2_HUMAN			Transcript			.	ENSP00000430872		CCDS8567.1			1	
BLTP2	0	LGGM	GRCh37	17	26961842	26961842	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	182	17	.	.	ENST00000528896.2:c.2763G>A	p.Gln921=	p.Q921=	ENST00000528896	NM_014680.3	921	caG/caA	0	1	1	UPI00004B4130	0		ENST00000528896		ENSG00000007202	28960		199			HGNC	p.Q921Q		KIAA0100		SNV							ENST00000005905	protein_coding			hmmpanther:PTHR15678		Q		T		2838/7407				Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,synonymous_variant,p.=,ENST00000528896,NM_014680.3;KIAA0100,synonymous_variant,p.=,ENST00000544884,;KIAA0100,synonymous_variant,p.=,ENST00000389003,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,intron_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000581267,;							LOW	2763/6708		K0100_HUMAN			Transcript			.	ENSP00000436773		CCDS32595.1			1	
C10orf82	0	LGGM	GRCh37	10	118424270	118424270	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	25	18	.	.	ENST00000369210.3:c.461+2T>G		p.X154_splice	ENST00000369210	NM_144661.2			0	1	1	UPI000006DC12	0		ENST00000369210		ENSG00000165863	28500		43			HGNC	-		C10orf82		SNV							ENST00000369210	protein_coding							C		-/994							YES	C10orf82,splice_donor_variant,,ENST00000369210,NM_144661.2;C10orf82,splice_donor_variant,,ENST00000588184,;C10orf82,splice_donor_variant,,ENST00000467153,;C10orf82,non_coding_transcript_exon_variant,,ENST00000588224,;							HIGH	461/465		CJ082_HUMAN			Transcript			.	ENSP00000358212		CCDS7596.1			1	
LY75	0	LGGM	GRCh37	2	160737697	160737697	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	22	18	.	.	ENST00000504764.1:c.1301T>A	p.Phe434Tyr	p.F434Y	ENST00000504764	NM_001198759.1	434	tTt/tAt	0	1		UPI00001AE885	0	getma.org/pdb.php?prot=LY75_HUMAN&from=378&to=487&var=F434Y	ENST00000263636		ENSG00000054219	6729		40	2.005		HGNC	p.F434Y		LY75		SNV							ENST00000553424	protein_coding	getma.org/?cm=var&var=hg19,2,160737697,A,T&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00034,Superfamily_domains:SSF56436		F/Y		T	medium	1329/6886		getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=378&re=487&var=F434Y	deleterious(0.01)					LY75,missense_variant,p.Phe434Tyr,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Phe434Tyr,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.Phe434Tyr,ENST00000554112,;LY75-CD302,missense_variant,p.Phe434Tyr,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.Phe434Tyr,ENST00000553424,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;							MODERATE	1301/5169	F434Y	LY75_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263636		CCDS2211.1			1	
TNRC6B	0	LGGM	GRCh37	22	40676135	40676135	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	30	18	.	.	ENST00000454349.2:c.3399T>A	p.Pro1133=	p.P1133=	ENST00000454349	NM_001162501.1	1133	ccT/ccA	0	1	1	UPI00017A6F19	0		ENST00000454349		ENSG00000100354	29190		48			HGNC	p.P1133P		TNRC6B		SNV							ENST00000454349	protein_coding			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		P		A		3610/18279							YES	TNRC6B,synonymous_variant,p.=,ENST00000454349,NM_001162501.1;TNRC6B,synonymous_variant,p.=,ENST00000335727,NM_015088.2;TNRC6B,synonymous_variant,p.=,ENST00000301923,NM_001024843.1;TNRC6B,synonymous_variant,p.=,ENST00000446273,;TNRC6B,synonymous_variant,p.=,ENST00000402203,;TNRC6B,non_coding_transcript_exon_variant,,ENST00000497559,;							LOW	3399/5502		TNR6B_HUMAN			Transcript			.	ENSP00000401946		CCDS54533.1			1	
RPL22	0	LGGM	GRCh37	1	6246863	6246863	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	8	18	.	.	ENST00000234875.4:c.256C>G	p.Leu86Val	p.L86V	ENST00000234875	NM_000983.3	86	Ctc/Gtc	0	1	1	UPI000015A487	0	getma.org/pdb.php?prot=RL22_HUMAN&from=13&to=127&var=L86V	ENST00000234875		ENSG00000116251	10315		26	3.95		HGNC	p.L53V		RPL22		SNV							ENST00000465387	protein_coding	getma.org/?cm=var&var=hg19,1,6246863,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10064:SF2,hmmpanther:PTHR10064,Pfam_domain:PF01776		L/V		C	high	295/2078		getma.org/?cm=msa&ty=f&p=RL22_HUMAN&rb=13&re=127&var=L86V	deleterious(0)	Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN			YES	RPL22,missense_variant,p.Leu86Val,ENST00000234875,NM_000983.3;RPL22,missense_variant,p.Leu53Val,ENST00000497965,;RPL22,missense_variant,p.Leu53Val,ENST00000471204,;RPL22,missense_variant,p.Leu53Val,ENST00000465387,;RPL22,intron_variant,,ENST00000484532,;RPL22,non_coding_transcript_exon_variant,,ENST00000480661,;							MODERATE	256/387	L86V	RL22_HUMAN			Transcript		possibly_damaging(0.538)	.	ENSP00000346088		CCDS58.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	19	18	.	.	ENST00000349496.5:c.110C>T	p.Ser37Phe	p.S37F	ENST00000349496	NM_001904.3	37	tCt/tTt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37F	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		37	2.485		HGNC	p.S37F	rs121913403,COSM5662	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266113,C,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/F		T	medium	390/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37F	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	110/2346	S37F	CTNB1_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000344456		CCDS2694.1			1	
ELAVL1	0	LGGM	GRCh37	19	8056650	8056650	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	23	19	.	.	ENST00000407627.2:c.50T>G	p.Ile17Ser	p.I17S	ENST00000407627	NM_001419.2	17	aTc/aGc	0	1		UPI00017A7EC2	0	NA	ENST00000351593		ENSG00000066044	3312		42	0.27		HGNC	p.I17S		ELAVL1		SNV							ENST00000407627	protein_coding	getma.org/?cm=var&var=hg19,19,8056650,A,C&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF228		I/S		C	neutral	218/1473		getma.org/?cm=msa&ty=f&p=ELAV1_HUMAN&rb=1&re=51&var=I17S		B4DVB8_HUMAN				ELAVL1,missense_variant,p.Ile17Ser,ENST00000407627,NM_001419.2;ELAVL1,missense_variant,p.Ile17Ser,ENST00000596459,;ELAVL1,missense_variant,p.Ile44Ser,ENST00000351593,;ELAVL1,missense_variant,p.Ile17Ser,ENST00000593807,;							MODERATE	131/1062	I17S				Transcript		benign(0.219)	.	ENSP00000264073					1	
F5	0	LGGM	GRCh37	1	169521960	169521960	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	59	19	.	.	ENST00000367797.3:c.1131T>G	p.Ser377=	p.S377=	ENST00000367797	NM_000130.4	377	tcT/tcG	0	1	1	UPI0000070F01	0		ENST00000367797		ENSG00000198734	3542		78			HGNC	p.S240S		F5		SNV			1				ENST00000546081	protein_coding			Gene3D:2.60.40.420,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Superfamily_domains:SSF49503		S		C		1333/7024				Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN			YES	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;F5,synonymous_variant,p.=,ENST00000546081,;							LOW	1131/6675		FA5_HUMAN			Transcript			.	ENSP00000356771		CCDS1281.1			1	
PCDH15	0	LGGM	GRCh37	10	55826520	55826520	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	17	19	.	.	ENST00000361849.3:c.2217A>G	p.Val739=	p.V739=	ENST00000361849	NM_001142768.1	739	gtA/gtG	0	1		UPI000014083E	0		ENST00000320301		ENSG00000150275	14674		36			HGNC	p.V668V		PCDH15		SNV			1				ENST00000437009	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		C		2612/6845				A2A3D9_HUMAN				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,synonymous_variant,p.=,ENST00000373955,;PCDH15,synonymous_variant,p.=,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,;							LOW	2217/5868		PCD15_HUMAN			Transcript			.	ENSP00000322604		CCDS7248.1			1	
SLC25A44	0	LGGM	GRCh37	1	156170023	156170023	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	28	19	.	.	ENST00000359511.4:c.385C>T	p.Pro129Ser	p.P129S	ENST00000359511	NM_014655.2	129	Ccc/Tcc	0	1	1	UPI0000073CAD	0	getma.org/pdb.php?prot=S2544_HUMAN&from=105&to=213&var=P129S	ENST00000359511		ENSG00000160785	29036		47	4.22		HGNC	p.P129S		SLC25A44		SNV							ENST00000359511	protein_coding	getma.org/?cm=var&var=hg19,1,156170023,C,T&fts=all		Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF41,hmmpanther:PTHR24089,PROSITE_profiles:PS50920		P/S		T	high	557/3482		getma.org/?cm=msa&ty=f&p=S2544_HUMAN&rb=105&re=213&var=P129S	deleterious(0)				YES	SLC25A44,missense_variant,p.Pro129Ser,ENST00000359511,NM_014655.2;SLC25A44,splice_region_variant,,ENST00000423538,;SLC25A44,non_coding_transcript_exon_variant,,ENST00000469537,;SLC25A44,downstream_gene_variant,,ENST00000482737,;SLC25A44,upstream_gene_variant,,ENST00000468973,;							MODERATE	385/945	P129S	S2544_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352497		CCDS1133.1			1	
CYP17A1	0	LGGM	GRCh37	10	104592845	104592845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	12	19	.	.	ENST00000369887.3:c.874A>T	p.Ile292Phe	p.I292F	ENST00000369887	NM_000102.3	292	Att/Ttt	0	1	1	UPI0000128309	0	getma.org/pdb.php?prot=CP17A_HUMAN&from=28&to=493&var=I292F	ENST00000369887		ENSG00000148795	2593		31	3.03		HGNC	p.I292F		CYP17A1		SNV			1				ENST00000369887	protein_coding	getma.org/?cm=var&var=hg19,10,104592845,T,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24289,hmmpanther:PTHR24289:SF1,Superfamily_domains:SSF48264		I/F		A	medium	1046/1870		getma.org/?cm=msa&ty=f&p=CP17A_HUMAN&rb=28&re=493&var=I292F	deleterious(0)	Q1HB44_HUMAN,C7F7K7_HUMAN			YES	CYP17A1,missense_variant,p.Ile292Phe,ENST00000369887,NM_000102.3;CYP17A1-AS1,intron_variant,,ENST00000369884,;CYP17A1,downstream_gene_variant,,ENST00000489268,;CYP17A1,upstream_gene_variant,,ENST00000469683,;PFN1P11,downstream_gene_variant,,ENST00000445829,;							MODERATE	874/1527	I292F	CP17A_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000358903		CCDS7541.1			1	
TMEM161B	0	LGGM	GRCh37	5	87536673	87536673	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	21	19	.	.	ENST00000296595.6:c.64A>G	p.Ile22Val	p.I22V	ENST00000296595	NM_153354.3	22	Ata/Gta	0	1	1	UPI000007229D	0	NA	ENST00000296595		ENSG00000164180	28483		40	1.1		HGNC	p.I22V		TMEM161B		SNV							ENST00000296595	protein_coding	getma.org/?cm=var&var=hg19,5,87536673,T,C&fts=all		Pfam_domain:PF10268,hmmpanther:PTHR13624,hmmpanther:PTHR13624:SF3		I/V		C	low	189/2594		getma.org/?cm=msa&ty=f&p=T161B_HUMAN&rb=2&re=487&var=I22V	tolerated(0.15)	D6RBE8_HUMAN,B7Z6T3_HUMAN			YES	TMEM161B,missense_variant,p.Ile22Val,ENST00000296595,NM_153354.3;TMEM161B,missense_variant,p.Ile22Val,ENST00000514135,;TMEM161B,missense_variant,p.Ile11Val,ENST00000512429,;TMEM161B,intron_variant,,ENST00000506536,;TMEM161B,intron_variant,,ENST00000509387,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000515477,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000503943,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000503194,;TMEM161B,intron_variant,,ENST00000503755,;TMEM161B,intron_variant,,ENST00000513487,;TMEM161B,missense_variant,p.Ile22Val,ENST00000511087,;TMEM161B,missense_variant,p.Ile22Val,ENST00000507872,;TMEM161B,intron_variant,,ENST00000510089,;							MODERATE	64/1464	I22V	T161B_HUMAN			Transcript		benign(0.047)	.	ENSP00000296595		CCDS4065.1			1	
RGS7BP	0	LGGM	GRCh37	5	63803575	63803575	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	20	.	.	ENST00000334025.2:c.203G>T	p.Arg68Leu	p.R68L	ENST00000334025	NM_001029875.2	68	cGa/cTa	0	1	1	UPI00001D7F8B	0	NA	ENST00000334025		ENSG00000186479	23271		31	1.04		HGNC	p.R68L		RGS7BP		SNV							ENST00000334025	protein_coding	getma.org/?cm=var&var=hg19,5,63803575,G,T&fts=all		hmmpanther:PTHR21029,hmmpanther:PTHR21029:SF11		R/L		T	low	529/4160		getma.org/?cm=msa&ty=f&p=R7BP_HUMAN&rb=1&re=255&var=R68L	deleterious(0)				YES	RGS7BP,missense_variant,p.Arg68Leu,ENST00000334025,NM_001029875.2,NM_001271891.1,NM_001271890.1;RGS7BP,intron_variant,,ENST00000508162,;							MODERATE	203/774	R68L	R7BP_HUMAN			Transcript		benign(0.433)	.	ENSP00000334851		CCDS34170.1			1	
EYA1	0	LGGM	GRCh37	8	72211370	72211370	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	83	20	.	.	ENST00000340726.3:c.738C>A	p.Ser246Arg	p.S246R	ENST00000340726	NM_000503.4	246	agC/agA	0	1	1	UPI000012A3B3	0	NA	ENST00000340726		ENSG00000104313	3519		103	0.85		HGNC	p.S240R		EYA1		SNV			1				ENST00000303824	protein_coding	getma.org/?cm=var&var=hg19,8,72211370,G,T&fts=all		hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190,Low_complexity_(Seg):seg		S/R		T	low	1378/4326		getma.org/?cm=msa&ty=f&p=EYA1_HUMAN&rb=1&re=590&var=S246R	deleterious(0.04)	Q4A4D0_HUMAN			YES	EYA1,missense_variant,p.Ser246Arg,ENST00000340726,NM_000503.4,NM_001288574.1;EYA1,missense_variant,p.Ser240Arg,ENST00000303824,;EYA1,missense_variant,p.Ser246Arg,ENST00000388742,NM_172058.2,NM_172059.2;EYA1,missense_variant,p.Ser213Arg,ENST00000388740,NM_172060.2;EYA1,missense_variant,p.Ser212Arg,ENST00000388741,;EYA1,missense_variant,p.Ser245Arg,ENST00000388743,;EYA1,missense_variant,p.Ser241Arg,ENST00000419131,;EYA1,3_prime_UTR_variant,,ENST00000465115,NM_001288575.1;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;EYA1,upstream_gene_variant,,ENST00000493349,;							MODERATE	738/1779	S246R	EYA1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000342626		CCDS34906.1			1	
OR2AP1	0	LGGM	GRCh37	12	55968472	55968472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	39	20	.	.	ENST00000321688.1:c.274T>C	p.Phe92Leu	p.F92L	ENST00000321688	NM_001258285.1	92	Ttt/Ctt	0	1	1	UPI000004B228	0		ENST00000321688		ENSG00000179615	15335		59			HGNC	p.F92L		OR2AP1		SNV							ENST00000321688	protein_coding			Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF16,PROSITE_profiles:PS50262		F/L		C		274/930			deleterious_low_confidence(0.01)				YES	OR2AP1,missense_variant,p.Phe92Leu,ENST00000321688,NM_001258285.1;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;							MODERATE	274/930		O2AP1_HUMAN			Transcript		benign(0.055)	.	ENSP00000323423		CCDS58241.1			1	
EVPL	0	LGGM	GRCh37	17	74007726	74007726	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	22	20	.	.	ENST00000301607.3:c.2592T>C	p.Tyr864=	p.Y864=	ENST00000301607	NM_001988.2	864	taT/taC	0	1	1	UPI000013E730	0		ENST00000301607		ENSG00000167880	3503		42			HGNC	p.Y886Y		EVPL		SNV							ENST00000586740	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7		Y		G		2846/6614				K7EQ87_HUMAN			YES	EVPL,synonymous_variant,p.=,ENST00000301607,NM_001988.2;EVPL,synonymous_variant,p.=,ENST00000586740,;EVPL,upstream_gene_variant,,ENST00000589231,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;EVPL,non_coding_transcript_exon_variant,,ENST00000593037,;							LOW	2592/6102		EVPL_HUMAN			Transcript			.	ENSP00000301607		CCDS11737.1			1	
C2orf43	0	LGGM	GRCh37	2	20990141	20990141	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	27	20	.	.	ENST00000237822.3:c.172G>A	p.Ala58Thr	p.A58T	ENST00000237822	NM_021925.2	58	Gcc/Acc	0	1	1	UPI0000071DAB	0	NA	ENST00000237822		ENSG00000118961	26145		47	1.575		HGNC	p.A58T		C2orf43		SNV							ENST00000419825	protein_coding	getma.org/?cm=var&var=hg19,2,20990141,C,T&fts=all		hmmpanther:PTHR13390:SF0,hmmpanther:PTHR13390,Pfam_domain:PF10230,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		A/T		T	low	252/2903		getma.org/?cm=msa&ty=f&p=CB043_HUMAN&rb=43&re=303&var=A58T	tolerated(0.22)	C9JHU6_HUMAN,B7ZA47_HUMAN,B4DU46_HUMAN			YES	C2orf43,missense_variant,p.Ala58Thr,ENST00000237822,NM_021925.2;C2orf43,missense_variant,p.Ala58Thr,ENST00000381090,;C2orf43,missense_variant,p.Ala58Thr,ENST00000440866,;C2orf43,missense_variant,p.Ala58Thr,ENST00000419825,;C2orf43,missense_variant,p.Ala64Thr,ENST00000402479,;C2orf43,5_prime_UTR_variant,,ENST00000403006,;C2orf43,5_prime_UTR_variant,,ENST00000541941,NM_001282721.1;C2orf43,intron_variant,,ENST00000435420,NM_001282720.1;C2orf43,intron_variant,,ENST00000412261,;C2orf43,intron_variant,,ENST00000432947,;							MODERATE	172/978	A58T	CB043_HUMAN			Transcript		benign(0.014)	.	ENSP00000237822		CCDS1702.1			1	
SEC16A	0	LGGM	GRCh37	9	139371886	139371886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	40	21	.	.	ENST00000313050.7:c.182C>A	p.Ala61Glu	p.A61E	ENST00000313050	NM_014866.1	61	gCg/gAg	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006		61	0.55		HGNC	p.A61E		SEC16A		SNV							ENST00000313050	protein_coding	getma.org/?cm=var&var=hg19,9,139371886,G,T&fts=all				A/E		T	neutral	256/8806		getma.org/?cm=msa&ty=f&p=G1UI25_HUMAN&rb=1&re=142&var=A61E	deleterious(0.01)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Ala61Glu,ENST00000313050,NM_014866.1;SEC16A,upstream_gene_variant,,ENST00000371706,NM_001276418.1;SEC16A,upstream_gene_variant,,ENST00000290037,;SEC16A,upstream_gene_variant,,ENST00000431893,;							MODERATE	182/7074	A61E				Transcript		benign(0.43)	.	ENSP00000325827		CCDS55351.1			1	
PSMD7	0	LGGM	GRCh37	16	74339463	74339463	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	21	.	.	ENST00000219313.4:c.807G>C	p.Val269=	p.V269=	ENST00000219313	NM_002811.4	269	gtG/gtC	0	1	1	UPI000013278A	0		ENST00000219313		ENSG00000103035	9565		32			HGNC	p.V192V		PSMD7		SNV							ENST00000540379	protein_coding			hmmpanther:PTHR10540:SF7,hmmpanther:PTHR10540,Pfam_domain:PF13012		V		C		947/1670				H3BNT7_HUMAN,B4DXI8_HUMAN			YES	PSMD7,synonymous_variant,p.=,ENST00000219313,NM_002811.4;PSMD7,synonymous_variant,p.=,ENST00000540379,;PSMD7,downstream_gene_variant,,ENST00000568615,;PSMD7,downstream_gene_variant,,ENST00000567958,;AC009120.6,non_coding_transcript_exon_variant,,ENST00000566411,;AC009120.6,non_coding_transcript_exon_variant,,ENST00000565313,;AC009120.6,downstream_gene_variant,,ENST00000561921,;PSMD7,3_prime_UTR_variant,,ENST00000568717,;PSMD7,non_coding_transcript_exon_variant,,ENST00000563150,;							LOW	807/975		PSMD7_HUMAN			Transcript			.	ENSP00000219313		CCDS10910.1			1	
DDX42	0	LGGM	GRCh37	17	61869812	61869812	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	83	21	.	.	ENST00000578681.1:c.262T>G	p.Leu88Val	p.L88V	ENST00000578681	NM_007372.3	88	Tta/Gta	0	1		UPI000017DA3D	0	NA	ENST00000389924		ENSG00000198231	18676		104	1.935		HGNC	p.L88V		DDX42		SNV							ENST00000578137	protein_coding	getma.org/?cm=var&var=hg19,17,61869812,T,G&fts=all		hmmpanther:PTHR24031:SF125,hmmpanther:PTHR24031		L/V		G	medium	448/3921		getma.org/?cm=msa&ty=f&p=DDX42_HUMAN&rb=1&re=200&var=L88V	deleterious(0.01)	J3QRI2_HUMAN,B3KMI4_HUMAN				DDX42,missense_variant,p.Leu88Val,ENST00000578681,NM_007372.3;DDX42,missense_variant,p.Leu88Val,ENST00000583590,;DDX42,missense_variant,p.Leu88Val,ENST00000389924,NM_203499.2;DDX42,missense_variant,p.Leu88Val,ENST00000457800,;DDX42,missense_variant,p.Leu88Val,ENST00000581135,;DDX42,5_prime_UTR_variant,,ENST00000359353,;DDX42,missense_variant,p.Leu88Val,ENST00000578137,;DDX42,non_coding_transcript_exon_variant,,ENST00000580108,;DDX42,upstream_gene_variant,,ENST00000577940,;DDX42,upstream_gene_variant,,ENST00000584261,;							MODERATE	262/2817	L88V	DDX42_HUMAN			Transcript		benign(0.045)	.	ENSP00000374574		CCDS32704.1			1	
GTF2F2	0	LGGM	GRCh37	13	45827032	45827032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	9	22	.	.	ENST00000340473.6:c.413C>A	p.Pro138Gln	p.P138Q	ENST00000340473	NM_004128.2	138	cCa/cAa	0	1	1	UPI0000000C36	0	NA	ENST00000340473		ENSG00000188342	4653		31	2.62		HGNC	p.P138Q		GTF2F2		SNV							ENST00000340473	protein_coding	getma.org/?cm=var&var=hg19,13,45827032,C,A&fts=all		hmmpanther:PTHR10445,hmmpanther:PTHR10445:SF0,Pfam_domain:PF02270,PIRSF_domain:PIRSF015849		P/Q		A	medium	554/1432		getma.org/?cm=msa&ty=f&p=T2FB_HUMAN&rb=98&re=241&var=P138Q	deleterious(0)				YES	GTF2F2,missense_variant,p.Pro138Gln,ENST00000340473,NM_004128.2;GTF2F2,non_coding_transcript_exon_variant,,ENST00000494087,;GTF2F2,non_coding_transcript_exon_variant,,ENST00000461904,;							MODERATE	413/750	P138Q	T2FB_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000340823		CCDS9395.1			1	
BAZ2B	0	LGGM	GRCh37	2	160193468	160193468	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	8	22	.	.	ENST00000392783.2:c.5781A>G	p.Lys1927=	p.K1927=	ENST00000392783	NM_013450.2	1927	aaA/aaG	0	1	1	UPI0000D74C4A	0		ENST00000392783		ENSG00000123636	963		30			HGNC	p.K1827K	rs756649542	BAZ2B		SNV							ENST00000343439	protein_coding			Superfamily_domains:SSF57903,Gene3D:3.30.40.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144		K		C		6277/8289	1.51E-05			Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,synonymous_variant,p.=,ENST00000392783,NM_013450.2;BAZ2B,synonymous_variant,p.=,ENST00000392782,;BAZ2B,synonymous_variant,p.=,ENST00000355831,;BAZ2B,synonymous_variant,p.=,ENST00000343439,;BAZ2B,downstream_gene_variant,,ENST00000426648,;BAZ2B,intron_variant,,ENST00000474437,;BAZ2B,upstream_gene_variant,,ENST00000548440,;							LOW	5781/6507		BAZ2B_HUMAN			Transcript			.	ENSP00000376534	8.28E-06	CCDS2209.2			1	
VPS13C	0	LGGM	GRCh37	15	62246684	62246684	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	23	22	.	.	ENST00000261517.5:c.4235C>G	p.Thr1412Ser	p.T1412S	ENST00000261517	NM_020821.2	1412	aCt/aGt	0	1	1	UPI000023B7D3	0	NA	ENST00000261517		ENSG00000129003	23594		45	1.15		HGNC	p.T1412S		VPS13C		SNV							ENST00000261517	protein_coding	getma.org/?cm=var&var=hg19,15,62246684,G,C&fts=all		hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166		T/S		C	low	4309/13400		getma.org/?cm=msa&ty=f&p=VP13C_HUMAN&rb=1320&re=1519&var=T1412S	tolerated(0.62)	B4E2S9_HUMAN,B3KW10_HUMAN			YES	VPS13C,missense_variant,p.Thr1412Ser,ENST00000261517,NM_020821.2;VPS13C,missense_variant,p.Thr1369Ser,ENST00000249837,NM_017684.4;VPS13C,missense_variant,p.Thr1412Ser,ENST00000395896,NM_001018088.2;VPS13C,missense_variant,p.Thr1369Ser,ENST00000395898,NM_018080.3;VPS13C,non_coding_transcript_exon_variant,,ENST00000558088,;							MODERATE	4235/11262	T1412S	VP13C_HUMAN			Transcript		benign(0.004)	.	ENSP00000261517		CCDS32257.1			1	
PTPRT	0	LGGM	GRCh37	20	41306608	41306608	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	16	22	.	.	ENST00000373198.4:c.1051G>A	p.Asp351Asn	p.D351N	ENST00000373198	NM_133170.3	351	Gac/Aac	0	1	1	UPI0000246C03	0	getma.org/pdb.php?prot=PTPRT_HUMAN&from=290&to=374&var=D351N	ENST00000373187		ENSG00000196090	9682		38	2.48		HGNC	p.D351N		PTPRT		SNV							ENST00000373184	protein_coding	getma.org/?cm=var&var=hg19,20,41306608,C,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		D/N		T	medium	1051/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=290&re=374&var=D351N	deleterious(0)				YES	PTPRT,missense_variant,p.Asp351Asn,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Asp351Asn,ENST00000373201,;PTPRT,missense_variant,p.Asp351Asn,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Asp351Asn,ENST00000373190,;PTPRT,missense_variant,p.Asp351Asn,ENST00000373184,;PTPRT,missense_variant,p.Asp351Asn,ENST00000356100,;PTPRT,missense_variant,p.Asp351Asn,ENST00000373187,;							MODERATE	1051/4326	D351N	PTPRT_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000362283		CCDS42874.1			1	
RAD51AP2	0	LGGM	GRCh37	2	17697506	17697506	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	37	23	.	.	ENST00000399080.2:c.2177A>C	p.Tyr726Ser	p.Y726S	ENST00000399080	NM_001099218.2	726	tAt/tCt	0	1	1	UPI0000418FD4	0	NA	ENST00000399080		ENSG00000214842	34417		60	0.55		HGNC	p.Y726S		RAD51AP2		SNV							ENST00000399080	protein_coding	getma.org/?cm=var&var=hg19,2,17697506,T,G&fts=all				Y/S		G	neutral	2201/3724		getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=Y726S	tolerated(0.38)				YES	RAD51AP2,missense_variant,p.Tyr726Ser,ENST00000399080,NM_001099218.2;							MODERATE	2177/3480	Y726S	R51A2_HUMAN			Transcript		benign(0.053)	.	ENSP00000382030		CCDS42656.1			1	
TNRC6B	0	LGGM	GRCh37	22	40676046	40676046	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	46	23	.	.	ENST00000454349.2:c.3310C>G	p.Leu1104Val	p.L1104V	ENST00000454349	NM_001162501.1	1104	Ctc/Gtc	0	1	1	UPI00017A6F19	0	NA	ENST00000454349		ENSG00000100354	29190		69	0.145		HGNC	p.L1104V		TNRC6B		SNV							ENST00000454349	protein_coding	getma.org/?cm=var&var=hg19,22,40676046,C,G&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		L/V		G	neutral	3521/18279		getma.org/?cm=msa&ty=f&p=TNR6B_HUMAN&rb=1062&re=1261&var=L1104V	tolerated(1)				YES	TNRC6B,missense_variant,p.Leu1104Val,ENST00000454349,NM_001162501.1;TNRC6B,missense_variant,p.Leu1051Val,ENST00000335727,NM_015088.2;TNRC6B,missense_variant,p.Leu357Val,ENST00000301923,NM_001024843.1;TNRC6B,missense_variant,p.Leu847Val,ENST00000446273,;TNRC6B,missense_variant,p.Leu357Val,ENST00000402203,;TNRC6B,non_coding_transcript_exon_variant,,ENST00000497559,;							MODERATE	3310/5502	L1104V	TNR6B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000401946		CCDS54533.1			1	
HMCN1	0	LGGM	GRCh37	1	186083964	186083964	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	86	23	.	.	ENST00000271588.4:c.11290G>C	p.Glu3764Gln	p.E3764Q	ENST00000271588	NM_031935.2	3764	Gaa/Caa	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3713&to=3800&var=E3764Q	ENST00000271588		ENSG00000143341	19194		109	1.025		HGNC	p.E3764Q		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186083964,G,C&fts=all		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		E/Q		C	low	11519/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3713&re=3800&var=E3764Q					YES	HMCN1,missense_variant,p.Glu3764Gln,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Glu3764Gln,ENST00000367492,;							MODERATE	11290/16908	E3764Q	HMCN1_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000271588		CCDS30956.1			1	
HFM1	0	LGGM	GRCh37	1	91784675	91784675	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	12	23	.	.	ENST00000370425.3:c.2772G>C	p.Trp924Cys	p.W924C	ENST00000370425	NM_001017975.3	924	tgG/tgC	0	1	1	UPI0000F51F79	0	NA	ENST00000370425		ENSG00000162669	20193		35	2.92		HGNC	p.W603C		HFM1		SNV							ENST00000370424	protein_coding	getma.org/?cm=var&var=hg19,1,91784675,C,G&fts=all		Gene3D:2q0zX01,Pfam_domain:PF02889,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,SMART_domains:SM00973,Superfamily_domains:SSF158702		W/C		G	medium	2871/4931		getma.org/?cm=msa&ty=f&p=HFM1_HUMAN&rb=777&re=1092&var=W924C	deleterious(0)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN			YES	HFM1,missense_variant,p.Trp924Cys,ENST00000370425,NM_001017975.3;HFM1,missense_variant,p.Trp156Cys,ENST00000294696,;HFM1,missense_variant,p.Trp603Cys,ENST00000370424,;HFM1,intron_variant,,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;HFM1,intron_variant,,ENST00000497520,;							MODERATE	2772/4308	W924C	HFM1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359454		CCDS30769.2			1	
SLFN5	0	LGGM	GRCh37	17	33588035	33588035	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	105	24	.	.	ENST00000299977.4:c.1058C>G	p.Ser353Cys	p.S353C	ENST00000299977	NM_144975.3	353	tCt/tGt	0	1	1	UPI0000237686	0	NA	ENST00000299977		ENSG00000166750	28286		129	1.75		HGNC	p.S353C		SLFN5		SNV							ENST00000542451	protein_coding	getma.org/?cm=var&var=hg19,17,33588035,C,G&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26		S/C		G	low	1206/10591		getma.org/?cm=msa&ty=f&p=SLFN5_HUMAN&rb=323&re=522&var=S353C	tolerated(0.14)				YES	SLFN5,missense_variant,p.Ser353Cys,ENST00000299977,NM_144975.3;SLFN5,missense_variant,p.Ser353Cys,ENST00000542451,;SLFN5,downstream_gene_variant,,ENST00000592325,;							MODERATE	1058/2676	S353C	SLFN5_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000299977		CCDS32619.1			1	
GPR126	0	LGGM	GRCh37	6	142736967	142736967	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	5	24	.	.	ENST00000367609.3:c.2704A>G	p.Met902Val	p.M902V	ENST00000367609	NM_198569.2	902	Atg/Gtg	0	1		UPI000046FFCF	0	NA	ENST00000230173		ENSG00000112414	13841		29	0.61		HGNC	p.M902V		GPR126		SNV			1				ENST00000230173	protein_coding	getma.org/?cm=var&var=hg19,6,142736967,A,G&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF47,hmmpanther:PTHR12011,Pfam_domain:PF00002,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		M/V		G	neutral	3180/7026		getma.org/?cm=msa&ty=f&p=GP126_HUMAN&rb=861&re=1110&var=M902V	deleterious(0.04)	F5H2L1_HUMAN				GPR126,missense_variant,p.Met902Val,ENST00000230173,NM_020455.5;GPR126,missense_variant,p.Met902Val,ENST00000367609,NM_198569.2;GPR126,missense_variant,p.Met874Val,ENST00000367608,NM_001032395.2;GPR126,missense_variant,p.Met874Val,ENST00000296932,NM_001032394.2;GPR126,upstream_gene_variant,,ENST00000472054,;GPR126,downstream_gene_variant,,ENST00000540208,;							MODERATE	2704/3666	M902V	GP126_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000230173		CCDS47490.1			1	
OR52N5	0	LGGM	GRCh37	11	5799470	5799470	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	1	24	.	.	ENST00000317093.2:c.395del	p.Tyr132LeufsTer2	p.Y132Lfs*2	ENST00000317093	NM_001001922.2	132	tAt/tt	0	1	1	UPI0000041BF9	0		ENST00000317093		ENSG00000181009	15231		25			HGNC	p.Y132fs		OR52N5		deletion							ENST00000317093	protein_coding			Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF18,Superfamily_domains:SSF81321		Y/X		-		428/1034							YES	OR52N5,frameshift_variant,p.Tyr132LeufsTer2,ENST00000317093,NM_001001922.2;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							HIGH	395/975		O52N5_HUMAN			Transcript			.	ENSP00000322866		CCDS31397.1			1	
ANTXRL	0	LGGM	GRCh37	10	47665104	47665104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	34	24	.	.	ENST00000447511.2:c.360C>A	p.Asp120Glu	p.D120E	ENST00000447511	NM_001278688.1	120	gaC/gaA	0	1	1	UPI00015B6A6A	0		ENST00000447511		ENSG00000198250	27277		58			HGNC	p.D120E		ANTXRL		SNV							ENST00000537271	protein_coding			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF10,SMART_domains:SM00327,Superfamily_domains:SSF53300		D/E		A		625/2284			tolerated(0.92)	H3BVE1_HUMAN,H3BPS2_HUMAN			YES	ANTXRL,missense_variant,p.Asp120Glu,ENST00000447511,NM_001278688.1;ANTXRL,missense_variant,p.Asp120Glu,ENST00000537271,;ANTXRL,missense_variant,p.Asp25Glu,ENST00000441923,;ANTXRL,missense_variant,p.Asp25Glu,ENST00000424375,;ANTXRL,non_coding_transcript_exon_variant,,ENST00000564569,;ANTXRL,upstream_gene_variant,,ENST00000434908,;							MODERATE	360/1896					Transcript		possibly_damaging(0.475)	.	ENSP00000455449		CCDS60524.1			1	
OR13C3	0	LGGM	GRCh37	9	107298143	107298143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	32	24	.	.	ENST00000374781.2:c.952A>G	p.Thr318Ala	p.T318A	ENST00000374781	NM_001001961.1	318	Aca/Gca	0	1	1	UPI000015F232	0	NA	ENST00000374781		ENSG00000204246	14704		56	1.685		HGNC	p.T318A		OR13C3		SNV							ENST00000374781	protein_coding	getma.org/?cm=var&var=hg19,9,107298143,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF34,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/A		C	low	995/1108		getma.org/?cm=msa&ty=f&p=O13C3_HUMAN&rb=169&re=319&var=T318A	deleterious(0.01)				YES	OR13C3,missense_variant,p.Thr318Ala,ENST00000374781,NM_001001961.1;							MODERATE	952/1044	T318A	O13C3_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000363913		CCDS35089.1			1	
RP11-89F17.5	0	LGGM	GRCh37	3	51475454	51475454	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	56	24	.	.				ENST00000605061				0	1	1		0	NA	ENST00000605061		ENSG00000270692			80	1.1	4986	Clone_based_vega_gene	p.I325F		RP11-89F17.5		SNV							ENST00000504652	processed_pseudogene	getma.org/?cm=var&var=hg19,3,51475454,T,A&fts=all						A	low	-/484		getma.org/?cm=msa&ty=f&p=VPRBP_HUMAN&rb=201&re=400&var=I325F					YES	VPRBP,missense_variant,p.Ile325Phe,ENST00000504652,;VPRBP,intron_variant,,ENST00000335891,;RP11-89F17.5,downstream_gene_variant,,ENST00000605061,;							MODIFIER		I325F				Transcript			.						1	
INPP5B	0	LGGM	GRCh37	1	38328063	38328063	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	14	25	.	.	ENST00000373024.3:c.2666G>C	p.Gly889Ala	p.G889A	ENST00000373024		889	gGt/gCt	0	1		UPI0000458AD6	0	getma.org/pdb.php?prot=I5P2_HUMAN&from=830&to=973&var=G969A	ENST00000373023		ENSG00000204084	6077		39	1.935		HGNC	p.G969A		INPP5B		SNV							ENST00000373026	protein_coding	getma.org/?cm=var&var=hg19,1,38328063,C,G&fts=all		PROSITE_profiles:PS50238,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF30,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		G/A		G	medium	3000/4694		getma.org/?cm=msa&ty=f&p=I5P2_HUMAN&rb=830&re=973&var=G969A	tolerated(0.07)					INPP5B,missense_variant,p.Gly969Ala,ENST00000373023,NM_005540.2;INPP5B,missense_variant,p.Gly725Ala,ENST00000373027,;INPP5B,missense_variant,p.Gly969Ala,ENST00000373026,;INPP5B,missense_variant,p.Gly889Ala,ENST00000373024,;MTF1,upstream_gene_variant,,ENST00000373036,NM_005955.2;RP11-109P14.10,downstream_gene_variant,,ENST00000419993,;INPP5B,non_coding_transcript_exon_variant,,ENST00000487328,;INPP5B,downstream_gene_variant,,ENST00000470364,;MTF1,upstream_gene_variant,,ENST00000468190,;							MODERATE	2906/2982	G969A	I5P2_HUMAN			Transcript		possibly_damaging(0.626)	.	ENSP00000362114					1	
DISP2	0	LGGM	GRCh37	15	40661143	40661143	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	14	25	.	.	ENST00000267889.3:c.2830C>T	p.Arg944Cys	p.R944C	ENST00000267889	NM_033510.1	944	Cgt/Tgt	0	1	1	UPI0000160F9B	0	NA	ENST00000267889		ENSG00000140323	19712		39	1.24		HGNC	p.R944C		DISP2		SNV							ENST00000267889	protein_coding	getma.org/?cm=var&var=hg19,15,40661143,C,T&fts=all		Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58,Superfamily_domains:SSF82866		R/C		T	low	2917/5031		getma.org/?cm=msa&ty=f&p=DISP2_HUMAN&rb=5&re=968&var=R944C	deleterious(0.01)				YES	DISP2,missense_variant,p.Arg944Cys,ENST00000267889,NM_033510.1;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,non_coding_transcript_exon_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;							MODERATE	2830/4206	R944C	DISP2_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000267889		CCDS10056.1			1	
FOXH1	0	LGGM	GRCh37	8	145699684	145699684	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	5	25	.	.	ENST00000377317.4:c.1035C>A	p.Val345=	p.V345=	ENST00000377317	NM_003923.2	345	gtC/gtA	0	1	1	UPI0000053417	0		ENST00000377317		ENSG00000160973	3814		30			HGNC	p.V345V		FOXH1		SNV			1				ENST00000377317	protein_coding			hmmpanther:PTHR11829:SF122,hmmpanther:PTHR11829		V		T		1614/2503							YES	FOXH1,synonymous_variant,p.=,ENST00000377317,NM_003923.2;KIFC2,downstream_gene_variant,,ENST00000301332,NM_145754.2;KIFC2,downstream_gene_variant,,ENST00000301331,;KIFC2,downstream_gene_variant,,ENST00000531423,;PPP1R16A,upstream_gene_variant,,ENST00000529283,;PPP1R16A,upstream_gene_variant,,ENST00000533088,;FOXH1,downstream_gene_variant,,ENST00000525197,;PPP1R16A,upstream_gene_variant,,ENST00000526183,;KIFC2,downstream_gene_variant,,ENST00000531425,;PPP1R16A,upstream_gene_variant,,ENST00000526643,;KIFC2,downstream_gene_variant,,ENST00000529864,;							LOW	1035/1098		FOXH1_HUMAN			Transcript			.	ENSP00000366534		CCDS6428.1			1	
PCDHB4	0	LGGM	GRCh37	5	140503639	140503639	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	31	27	.	.	ENST00000194152.1:c.2059G>T	p.Val687Phe	p.V687F	ENST00000194152	NM_018938.2	687	Gtc/Ttc	0	1	1	UPI00001273DF	0	NA	ENST00000194152		ENSG00000081818	8689		58	1.675		HGNC	p.V687F		PCDHB4		SNV							ENST00000194152	protein_coding	getma.org/?cm=var&var=hg19,5,140503639,G,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55		V/F		T	low	2059/3621		getma.org/?cm=msa&ty=f&p=PCDB4_HUMAN&rb=663&re=795&var=V687F	deleterious_low_confidence(0.03)				YES	PCDHB4,missense_variant,p.Val687Phe,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;							MODERATE	2059/2388	V687F	PCDB4_HUMAN			Transcript		benign(0.084)	.	ENSP00000194152		CCDS4246.1			1	
FKBP15	0	LGGM	GRCh37	9	115952813	115952813	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	34	27	.	.	ENST00000238256.3:c.1111A>G	p.Met371Val	p.M371V	ENST00000238256	NM_015258.1	371	Atg/Gtg	0	1	1	UPI000022D996	0	NA	ENST00000238256		ENSG00000119321	23397		61	2.215		HGNC	p.M371V		FKBP15		SNV							ENST00000238256	protein_coding	getma.org/?cm=var&var=hg19,9,115952813,T,C&fts=all		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF178		M/V		C	medium	1229/4336		getma.org/?cm=msa&ty=f&p=FKB15_HUMAN&rb=291&re=1217&var=M371V	deleterious(0.01)	B4DZS8_HUMAN			YES	FKBP15,missense_variant,p.Met396Val,ENST00000446284,;FKBP15,missense_variant,p.Met371Val,ENST00000238256,NM_015258.1;FKBP15,missense_variant,p.Met396Val,ENST00000414250,;FKBP15,upstream_gene_variant,,ENST00000489645,;							MODERATE	1111/3660	M371V	FKB15_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000238256		CCDS48007.1			1	
TTF1	0	LGGM	GRCh37	9	135266030	135266030	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	31	28	.	.	ENST00000334270.2:c.2176G>A	p.Glu726Lys	p.E726K	ENST00000334270	NM_001205296.1	726	Gaa/Aaa	0	1	1	UPI00001B55A7	0	NA	ENST00000334270		ENSG00000125482	12397		59	0.805		HGNC	p.E726K		TTF1		SNV							ENST00000334270	protein_coding	getma.org/?cm=var&var=hg19,9,135266030,C,T&fts=all		SMART_domains:SM00717,Gene3D:1.10.10.60,hmmpanther:PTHR10641:SF470,hmmpanther:PTHR10641,PROSITE_profiles:PS50090		E/K		T	low	2216/3052		getma.org/?cm=msa&ty=f&p=TTF1_HUMAN&rb=661&re=745&var=E726K	deleterious(0)				YES	TTF1,missense_variant,p.Glu726Lys,ENST00000334270,NM_001205296.1,NM_007344.3;							MODERATE	2176/2718	E726K	TTF1_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000333920		CCDS6948.1			1	
FMN1	0	LGGM	GRCh37	15	33359445	33359445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	26	28	.	.	ENST00000334528.9:c.641G>T	p.Ser214Ile	p.S214I	ENST00000334528	NM_001103184.3	214	aGc/aTc	0	1		UPI0001AE68B4	0		ENST00000559047		ENSG00000248905	3768		54			HGNC	p.S214I		FMN1		SNV							ENST00000334528	protein_coding							A		-/4260								FMN1,missense_variant,p.Ser214Ile,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Ser214Ile,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,NM_001277313.1;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;							MODIFIER	-/4260		FMN1_HUMAN			Transcript			.	ENSP00000454047		CCDS61581.1			1	
NWD1	0	LGGM	GRCh37	19	16908605	16908605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	43	28	.	.	ENST00000524140.2:c.3367A>T	p.Met1123Leu	p.M1123L	ENST00000524140	NM_001007525.3	1123	Atg/Ttg	0	1		UPI0001AE63B7	0	NA	ENST00000552788		ENSG00000188039	27619		71	0		HGNC	p.M1123L		NWD1		SNV							ENST00000549814	protein_coding	getma.org/?cm=var&var=hg19,19,16908605,A,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273,SMART_domains:SM00320,Superfamily_domains:SSF50998,Superfamily_domains:SSF50998		M/L		T	neutral	3367/6964		getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=939&re=1138&var=M1123L	tolerated(0.43)	E9PBV1_HUMAN				NWD1,missense_variant,p.Met1123Leu,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Met1123Leu,ENST00000552788,;NWD1,missense_variant,p.Met1123Leu,ENST00000549814,;NWD1,missense_variant,p.Met917Leu,ENST00000523826,;NWD1,missense_variant,p.Met1123Leu,ENST00000379808,;NWD1,missense_variant,p.Met988Leu,ENST00000339803,;CTD-2538G9.6,upstream_gene_variant,,ENST00000601661,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							MODERATE	3367/4695	M1123L	NWD1_HUMAN			Transcript		benign(0)	.	ENSP00000447224					1	
NPAT	0	LGGM	GRCh37	11	108043476	108043476	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	29	28	.	.	ENST00000278612.8:c.2235T>G	p.Ser745Arg	p.S745R	ENST00000278612	NM_002519.2	745	agT/agG	0	1	1	UPI00001FA306	0	NA	ENST00000278612		ENSG00000149308	7896		57	2.125		HGNC	p.S745R		NPAT		SNV							ENST00000278612	protein_coding	getma.org/?cm=var&var=hg19,11,108043476,A,C&fts=all		hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087		S/R		C	medium	2341/6117		getma.org/?cm=msa&ty=f&p=NPAT_HUMAN&rb=692&re=1425&var=S745R	deleterious(0)				YES	NPAT,missense_variant,p.Ser745Arg,ENST00000278612,NM_002519.2;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;NPAT,upstream_gene_variant,,ENST00000530859,;							MODERATE	2235/4284	S745R	NPAT_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000278612		CCDS41710.1			1	
BLTP1	0	LGGM	GRCh37	4	123170752	123170752	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	15	29	.	.	ENST00000264501.4:c.5625T>C	p.Val1875=	p.V1875=	ENST00000264501		1875	gtT/gtC	0	1	1	UPI0000DD87B4	0		ENST00000264501		ENSG00000138688	26953		44			HGNC	p.V1875V		KIAA1109		SNV							ENST00000455637	protein_coding			hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		V		C		5998/15896				B3KN93_HUMAN			YES	KIAA1109,synonymous_variant,p.=,ENST00000264501,;KIAA1109,synonymous_variant,p.=,ENST00000388738,NM_015312.3;KIAA1109,synonymous_variant,p.=,ENST00000455637,;KIAA1109,synonymous_variant,p.=,ENST00000446180,;KIAA1109,downstream_gene_variant,,ENST00000470182,;							LOW	5625/15018		K1109_HUMAN			Transcript			.	ENSP00000264501		CCDS43267.1			1	
GALNT3	0	LGGM	GRCh37	2	166618356	166618356	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	30	29	.	.	ENST00000392701.3:c.838+59A>C		*280*	ENST00000392701	NM_004482.3			0	1	1	UPI000013C989	0		ENST00000392701		ENSG00000115339	4125		59			HGNC	p.K17Q		GALNT3		SNV			1				ENST00000409882	protein_coding							G		-/3868				C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN			YES	GALNT3,missense_variant,p.Lys17Gln,ENST00000409882,;GALNT3,intron_variant,,ENST00000392701,NM_004482.3;GALNT3,intron_variant,,ENST00000412248,;GALNT3,intron_variant,,ENST00000437849,;GALNT3,intron_variant,,ENST00000463254,;							MODIFIER	-/1902		GALT3_HUMAN			Transcript			.	ENSP00000376465		CCDS2226.1			1	
CHSY1	0	LGGM	GRCh37	15	101717993	101717993	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	29	29	.	.	ENST00000254190.3:c.2009G>A	p.Ser670Asn	p.S670N	ENST00000254190	NM_014918.4	670	aGt/aAt	0	1	1	UPI000000DB6C	0	getma.org/pdb.php?prot=CHSS1_HUMAN&from=238&to=777&var=S670N	ENST00000254190		ENSG00000131873	17198		58	0.205		HGNC	p.S670N		CHSY1		SNV			1				ENST00000254190	protein_coding	getma.org/?cm=var&var=hg19,15,101717993,C,T&fts=all		hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF16,Pfam_domain:PF05679,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		S/N		T	neutral	2485/4550		getma.org/?cm=msa&ty=f&p=CHSS1_HUMAN&rb=238&re=777&var=S670N	tolerated(0.5)				YES	CHSY1,missense_variant,p.Ser670Asn,ENST00000254190,NM_014918.4;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;							MODERATE	2009/2409	S670N	CHSS1_HUMAN			Transcript		benign(0.005)	.	ENSP00000254190		CCDS10390.1			1	
PTPRB	0	LGGM	GRCh37	12	70989840	70989840	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	42	32	.	.	ENST00000334414.6:c.1247A>T	p.Asn416Ile	p.N416I	ENST00000334414	NM_001109754.2	416	aAt/aTt	0	1		UPI00001FC788	0	NA	ENST00000261266		ENSG00000127329	9665		74	1.04		HGNC	p.N416I		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,70989840,T,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Superfamily_domains:SSF49265		N/I		A	low	623/6110		getma.org/?cm=msa&ty=f&p=PTPRB_HUMAN&rb=110&re=201&var=N198I	tolerated(0.12)					PTPRB,missense_variant,p.Asn416Ile,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Asn198Ile,ENST00000451516,NM_001206971.1;PTPRB,missense_variant,p.Asn416Ile,ENST00000550358,;PTPRB,missense_variant,p.Asn198Ile,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Asn198Ile,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Asn198Ile,ENST00000550857,;PTPRB,missense_variant,p.Asn415Ile,ENST00000551525,;PTPRB,missense_variant,p.Asn295Ile,ENST00000548122,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;							MODERATE	593/5994	N198I	PTPRB_HUMAN			Transcript		benign(0.375)	.	ENSP00000261266		CCDS44944.1			1	
QRICH2	0	LGGM	GRCh37	17	74289089	74289089	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	13	33	.	.	ENST00000262765.5:c.1221T>A	p.Ser407=	p.S407=	ENST00000262765	NM_032134.1	407	tcT/tcA	0	1	1	UPI000006FECD	0		ENST00000262765		ENSG00000129646	25326		46			HGNC	p.S407S		QRICH2		SNV							ENST00000262765	protein_coding					S		T		1401/5359							YES	QRICH2,synonymous_variant,p.=,ENST00000262765,NM_032134.1;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;							LOW	1221/4992		QRIC2_HUMAN			Transcript			.	ENSP00000262765		CCDS32741.1			1	
LRGUK	0	LGGM	GRCh37	7	133827893	133827893	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	34	33	.	.	ENST00000285928.2:c.566T>C	p.Phe189Ser	p.F189S	ENST00000285928	NM_144648.1	189	tTc/tCc	0	1	1	UPI0000072C76	0	NA	ENST00000285928		ENSG00000155530	21964		67	2.69		HGNC	p.F189S		LRGUK		SNV							ENST00000285928	protein_coding	getma.org/?cm=var&var=hg19,7,133827893,T,C&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35,Low_complexity_(Seg):seg,Superfamily_domains:SSF52058		F/S		C	medium	635/3163		getma.org/?cm=msa&ty=f&p=LRGUK_HUMAN&rb=1&re=200&var=F189S	deleterious(0)				YES	LRGUK,missense_variant,p.Phe189Ser,ENST00000285928,NM_144648.1;LRGUK,downstream_gene_variant,,ENST00000473068,;							MODERATE	566/2478	F189S	LRGUK_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000285928		CCDS5830.1			1	
CR1	0	LGGM	GRCh37	1	207751172	207751172	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	300	33	.	.	ENST00000367049.4:c.4560A>C	p.Pro1520=	p.P1520=	ENST00000367049	NM_000651.4	1520	ccA/ccC	0	1		UPI000046FD49	0		ENST00000367051		ENSG00000203710	2334	0.000433	333			HGNC	p.P1070P	rs373191459	CR1	0.000908	SNV	C:0.0013		1	0.00266			ENST00000367053	protein_coding		C:0.003	PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535		P	C:0	C		3321/7469	0.000135			Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN	C:0	C:0		CR1,synonymous_variant,p.=,ENST00000367049,NM_000651.4;CR1,synonymous_variant,p.=,ENST00000367052,;CR1,synonymous_variant,p.=,ENST00000367051,;CR1,synonymous_variant,p.=,ENST00000367053,;CR1,synonymous_variant,p.=,ENST00000400960,NM_000573.3;CR1,synonymous_variant,p.=,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,intron_variant,,ENST00000596003,;		C:0.0008					LOW	3210/6120		CR1_HUMAN		C:0	Transcript			common_variant	ENSP00000356018	0.000455			C:0	1	
QRICH2	0	LGGM	GRCh37	17	74289088	74289088	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	12	33	.	.	ENST00000262765.5:c.1222G>T	p.Gly408Cys	p.G408C	ENST00000262765	NM_032134.1	408	Ggc/Tgc	0	1	1	UPI000006FECD	0	NA	ENST00000262765		ENSG00000129646	25326		45	1.935		HGNC	p.G408C		QRICH2		SNV							ENST00000262765	protein_coding	getma.org/?cm=var&var=hg19,17,74289088,C,A&fts=all				G/C		A	medium	1402/5359		getma.org/?cm=msa&ty=f&p=QRIC2_HUMAN&rb=310&re=509&var=G408C	deleterious(0)				YES	QRICH2,missense_variant,p.Gly408Cys,ENST00000262765,NM_032134.1;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;							MODERATE	1222/4992	G408C	QRIC2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262765		CCDS32741.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232650472	232650472	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	71	35	.	.	ENST00000366630.1:c.614G>A	p.Gly205Asp	p.G205D	ENST00000366630		205	gGt/gAt	0	1		UPI00001D7D6A	0	NA	ENST00000262861		ENSG00000116991	23800		106	0.995		HGNC	p.G205D		SIPA1L2		SNV							ENST00000366630	protein_coding	getma.org/?cm=var&var=hg19,1,232650472,C,T&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		G/D		T	low	841/6555		getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=201&re=400&var=G205D	tolerated(0.15)					SIPA1L2,missense_variant,p.Gly205Asp,ENST00000366630,;SIPA1L2,missense_variant,p.Gly205Asp,ENST00000262861,NM_020808.3;							MODERATE	614/5169	G205D	SI1L2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000262861		CCDS41474.1			1	
MMS22L	0	LGGM	GRCh37	6	97629835	97629835	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	11	36	.	.	ENST00000275053.4:c.2329G>T	p.Asp777Tyr	p.D777Y	ENST00000275053	NM_198468.2	777	Gat/Tat	0	1	1	UPI00003673C9	0	NA	ENST00000275053		ENSG00000146263	21475		47	2.015		HGNC	p.D777Y		MMS22L		SNV							ENST00000275053	protein_coding	getma.org/?cm=var&var=hg19,6,97629835,C,A&fts=all				D/Y		A	medium	2595/8643		getma.org/?cm=msa&ty=f&p=MMS22_HUMAN&rb=77&re=1238&var=D777Y	deleterious(0)	H9KVD8_HUMAN			YES	MMS22L,missense_variant,p.Asp777Tyr,ENST00000275053,NM_198468.2;MMS22L,missense_variant,p.Asp737Tyr,ENST00000369251,;							MODERATE	2329/3732	D777Y	MMS22_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000275053		CCDS5039.1			1	
LRRC46	0	LGGM	GRCh37	17	45909522	45909522	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	23	37	.	.	ENST00000269025.4:c.67A>T	p.Thr23Ser	p.T23S	ENST00000269025	NM_033413.3	23	Act/Tct	0	1	1	UPI0000072C2E	0	NA	ENST00000269025		ENSG00000141294	25047		60	0.805		HGNC	p.T23S		LRRC46		SNV							ENST00000584580	protein_coding	getma.org/?cm=var&var=hg19,17,45909522,A,T&fts=all		hmmpanther:PTHR10588:SF196,hmmpanther:PTHR10588		T/S		T	low	430/1922		getma.org/?cm=msa&ty=f&p=LRC46_HUMAN&rb=1&re=43&var=T23S	deleterious(0.02)	A8K9Q0_HUMAN			YES	LRRC46,missense_variant,p.Thr23Ser,ENST00000269025,NM_033413.3;MRPL10,upstream_gene_variant,,ENST00000290208,;MRPL10,upstream_gene_variant,,ENST00000351111,NM_145255.3;MRPL10,upstream_gene_variant,,ENST00000414011,NM_148887.2;LRRC46,missense_variant,p.Thr23Ser,ENST00000584580,;LRRC46,missense_variant,p.Thr23Ser,ENST00000579971,;LRRC46,missense_variant,p.Thr23Ser,ENST00000579742,;MRPL10,upstream_gene_variant,,ENST00000421763,;LRRC46,upstream_gene_variant,,ENST00000584809,;MRPL10,upstream_gene_variant,,ENST00000423147,;MRPL10,upstream_gene_variant,,ENST00000480901,;MRPL10,upstream_gene_variant,,ENST00000466016,;							MODERATE	67/966	T23S	LRC46_HUMAN			Transcript		benign(0.114)	.	ENSP00000269025		CCDS11518.1			1	
CARD14	0	LGGM	GRCh37	17	78164660	78164660	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	18	42	.	.	ENST00000573882.1:c.1051C>T	p.Gln351Ter	p.Q351*	ENST00000573882		351	Cag/Tag	0	1		UPI000013D81B	0	NA	ENST00000344227		ENSG00000141527	16446		60	0		HGNC	p.Q351X		CARD14		SNV			1				ENST00000570421	protein_coding	getma.org/?cm=var&var=hg19,17,78164660,C,T&fts=all		hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF1		Q/*		T	NA	1252/3927		NA		I3L4Q8_HUMAN,I3L1Z7_HUMAN				CARD14,stop_gained,p.Gln351Ter,ENST00000573882,;CARD14,stop_gained,p.Gln351Ter,ENST00000344227,NM_024110.4;CARD14,stop_gained,p.Gln351Ter,ENST00000570421,NM_001257970.1;CARD14,stop_gained,p.Gln114Ter,ENST00000392434,;CARD14,non_coding_transcript_exon_variant,,ENST00000573754,;CARD14,upstream_gene_variant,,ENST00000574148,;CARD14,stop_gained,p.Gln148Ter,ENST00000571450,;CARD14,missense_variant,p.Ala328Val,ENST00000575500,;CARD14,non_coding_transcript_exon_variant,,ENST00000571861,;CARD14,upstream_gene_variant,,ENST00000575666,;CARD14,downstream_gene_variant,,ENST00000572838,;							HIGH	1051/3015	Q351*	CAR14_HUMAN			Transcript			.	ENSP00000344549		CCDS11768.1			1	
KIF14	0	LGGM	GRCh37	1	200529905	200529905	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	76	44	.	.	ENST00000367350.4:c.4175A>G	p.Lys1392Arg	p.K1392R	ENST00000367350	NM_014875.2	1392	aAa/aGa	0	1	1	UPI000012DDA3	0	NA	ENST00000367350		ENSG00000118193	19181		120	1.79		HGNC	p.K1392R		KIF14		SNV							ENST00000367350	protein_coding	getma.org/?cm=var&var=hg19,1,200529905,T,C&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF128		K/R		C	low	4614/7274		getma.org/?cm=msa&ty=f&p=KIF14_HUMAN&rb=916&re=1646&var=K1392R	tolerated(0.1)				YES	KIF14,missense_variant,p.Lys1392Arg,ENST00000367350,NM_014875.2;							MODERATE	4175/4947	K1392R	KIF14_HUMAN			Transcript		benign(0.01)	.	ENSP00000356319		CCDS30963.1			1	
XIRP1	0	LGGM	GRCh37	3	39229671	39229671	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	68	44	.	.	ENST00000340369.3:c.1266G>T	p.Leu422=	p.L422=	ENST00000340369	NM_194293.2	422	ctG/ctT	0	1	1	UPI00001BFB06	0		ENST00000340369		ENSG00000168334	14301		112			HGNC	p.L422L		XIRP1		SNV							ENST00000396251	protein_coding			hmmpanther:PTHR22591,Low_complexity_(Seg):seg		L		A		1495/6460							YES	XIRP1,synonymous_variant,p.=,ENST00000340369,NM_194293.2;XIRP1,synonymous_variant,p.=,ENST00000396251,NM_001198621.1;XIRP1,intron_variant,,ENST00000421646,;							LOW	1266/5532		XIRP1_HUMAN			Transcript			.	ENSP00000343140		CCDS2683.1			1	
NIPBL	0	LGGM	GRCh37	5	37020900	37020900	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	53	45	.	.	ENST00000282516.8:c.5249A>G	p.Tyr1750Cys	p.Y1750C	ENST00000282516	NM_133433.3	1750	tAt/tGt	0	1	1	UPI00003761B5	0	NA	ENST00000282516	uncertain_significance	ENSG00000164190	28862		98	2.425		HGNC	p.Y1750C	rs374265736,COSM1437296,COSM1437297	NIPBL		SNV	T:0.0005		1			1,1,1	ENST00000282516	protein_coding	getma.org/?cm=var&var=hg19,5,37020900,A,G&fts=all		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		Y/C	T:0	G	medium	5748/10435	1.50E-05	getma.org/?cm=msa&ty=f&p=NIPBL_HUMAN&rb=1558&re=1757&var=Y1750C	deleterious(0)	A2RRA7_HUMAN			YES	NIPBL,missense_variant,p.Tyr1750Cys,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,missense_variant,p.Tyr1750Cys,ENST00000448238,;					0,1,1		MODERATE	5249/8415	Y1750C	NIPBL_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000282516	8.24E-06	CCDS3920.1			1	
PRSS1	0	LGGM	GRCh37	7	142460316	142460316	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	330	45	.	.	ENST00000311737.7:c.489T>A	p.Ala163=	p.A163=	ENST00000311737	NM_002769.4	163	gcT/gcA	0	1	1	UPI0000001309	0		ENST00000311737		ENSG00000204983	9475		375			HGNC	p.A163A		PRSS1		SNV			1				ENST00000311737	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494		A		A		495/800				Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN			YES	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,;							LOW	489/744		TRY1_HUMAN			Transcript			.	ENSP00000308720		CCDS5872.1			1	
SCN7A	0	LGGM	GRCh37	2	167262100	167262100	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060776	H060776N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	56	47	.	.	ENST00000409855.1:c.5039G>A	p.Ser1680Asn	p.S1680N	ENST00000409855	NM_002976.3	1680	aGc/aAc	0	1	1	UPI0000209019	0	NA	ENST00000409855		ENSG00000136546	10594		103	0.895		HGNC	p.S1680N		SCN7A		SNV							ENST00000409855	protein_coding	getma.org/?cm=var&var=hg19,2,167262100,C,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14		S/N		T	low	5166/7183		getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1496&re=1682&var=S1680N	tolerated_low_confidence(0.08)	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN			YES	SCN7A,missense_variant,p.Ser1680Asn,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;							MODERATE	5039/5049	S1680N	SCN7A_HUMAN			Transcript		benign(0.01)	.	ENSP00000386796		CCDS46442.1			1	
TTN	0	LGGM	GRCh37	2	179428645	179428645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	67	47	.	.	ENST00000589042.1:c.82214A>G	p.Tyr27405Cys	p.Y27405C	ENST00000589042	NM_001267550.1	27405	tAc/tGc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=25730&to=25815&var=Y25764C	ENST00000591111		ENSG00000155657	12403		114	4.57		HGNC	p.Y18465C		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179428645,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		Y/C		C	high	77516/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=25730&re=25815&var=Y25764C		C9JQJ2_HUMAN				TTN,missense_variant,p.Tyr27405Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Tyr25764Cys,ENST00000591111,;TTN,missense_variant,p.Tyr24837Cys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Tyr18532Cys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Tyr18465Cys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Tyr18340Cys,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,;							MODERATE	77291/103053	Y25764C	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
KIR2DL3	0	LGGM	GRCh37	19	55258800	55258800	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	68	49	.	.	ENST00000342376.3:c.678T>C	p.Asn226=	p.N226=	ENST00000342376	NM_015868.2	226	aaT/aaC	0	1	1	UPI000012DB1C	0		ENST00000342376		ENSG00000243772	6331		117			HGNC	p.N226N	rs764455087	KIR2DL3		SNV							ENST00000342376	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,Low_complexity_(Seg):seg		N		C		709/1590	1.61E-05			M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN			YES	KIR2DL3,synonymous_variant,p.=,ENST00000342376,NM_015868.2;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,;							LOW	678/1026		KI2L3_HUMAN			Transcript			.	ENSP00000342215	8.44E-06	CCDS33107.1			1	
ZDBF2	0	LGGM	GRCh37	2	207170291	207170291	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060776	H060776N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	42	49	.	.	ENST00000374423.3:c.1039G>A	p.Val347Ile	p.V347I	ENST00000374423	NM_020923.1	347	Gtt/Att	0	1	1	UPI000022BDE3	0	NA	ENST00000374423		ENSG00000204186	29313		91	1.67		HGNC	p.V347I		ZDBF2		SNV							ENST00000374423	protein_coding	getma.org/?cm=var&var=hg19,2,207170291,G,A&fts=all		hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		V/I		A	low	1425/10282		getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=V347I	tolerated(0.21)	N0DVB2_HUMAN			YES	ZDBF2,missense_variant,p.Val347Ile,ENST00000374423,NM_020923.1,NM_001285549.1;							MODERATE	1039/7065	V347I	ZDBF2_HUMAN			Transcript		benign(0.097)	.	ENSP00000363545		CCDS46501.1			1	
TRPS1	0	LGGM	GRCh37	8	116430582	116430582	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060776	H060776N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	134	50	.	.	ENST00000395715.3:c.2799T>C	p.Cys933=	p.C933=	ENST00000395715	NM_014112.2	933	tgT/tgC	0	1		UPI0000137646	0		ENST00000220888		ENSG00000104447	12340		184			HGNC	p.C933C		TRPS1		SNV			1				ENST00000395715	protein_coding			PROSITE_profiles:PS50114,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,PROSITE_patterns:PS00344,Gene3D:3.30.50.10,Pfam_domain:PF00320,SMART_domains:SM00401,Superfamily_domains:SSF57716,Prints_domain:PR00619		C		G		2920/5480								TRPS1,synonymous_variant,p.=,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,synonymous_variant,p.=,ENST00000220888,;TRPS1,synonymous_variant,p.=,ENST00000520276,NM_001282902.1;TRPS1,synonymous_variant,p.=,ENST00000519076,;TRPS1,synonymous_variant,p.=,ENST00000518018,;							LOW	2760/3846		TRPS1_HUMAN			Transcript			.	ENSP00000220888					1	
LPGAT1	0	LGGM	GRCh37	1	211966417	211966417	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	74	53	.	.	ENST00000366997.4:c.354A>T	p.Gly118=	p.G118=	ENST00000366997	NM_014873.2	118	ggA/ggT	0	1		UPI0000139467	0		ENST00000366996		ENSG00000123684	28985		127			HGNC	p.G118G		LPGAT1		SNV							ENST00000366997	protein_coding			hmmpanther:PTHR10983:SF2,hmmpanther:PTHR10983,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877		G		A		1170/2035				Q53YL2_HUMAN				LPGAT1,synonymous_variant,p.=,ENST00000366997,NM_014873.2;LPGAT1,synonymous_variant,p.=,ENST00000366996,;RN7SL344P,upstream_gene_variant,,ENST00000485522,;LPGAT1,non_coding_transcript_exon_variant,,ENST00000498690,;							LOW	354/1113		LGAT1_HUMAN			Transcript			.	ENSP00000355963		CCDS31018.1			1	
CSMD3	0	LGGM	GRCh37	8	113304854	113304854	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060776	H060776N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060776N.bam, H060776T.bam	Illumina HiSeq	30	86	.	.	ENST00000297405.5:c.8700A>G	p.Ser2900=	p.S2900=	ENST00000297405	NM_198123.1	2900	tcA/tcG	0	1	1	UPI00001E0584	0		ENST00000297405		ENSG00000164796	19291		116			HGNC	p.S2731S		CSMD3		SNV							ENST00000455883	protein_coding			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535		S		C		8945/13212							YES	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000352409,;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;							LOW	8700/11124		CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
CIITA	0	LGGM	GRCh37	16	11000384	11000384	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	29	3	.	.	ENST00000324288.8:c.1035G>A	p.Leu345=	p.L345=	ENST00000324288	NM_000246.3	345	ctG/ctA	0	1	1	UPI0000456914	0		ENST00000324288		ENSG00000179583	7067		32			HGNC	p.L345L		CIITA		SNV			1				ENST00000324288	protein_coding			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104		L		A		1168/9438				I3L2E5_HUMAN			YES	CIITA,synonymous_variant,p.=,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,intron_variant,,ENST00000381835,NM_001286403.1;CIITA,downstream_gene_variant,,ENST00000576601,;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,downstream_gene_variant,,ENST00000571186,;CIITA,downstream_gene_variant,,ENST00000571190,;							LOW	1035/3393		C2TA_HUMAN			Transcript			.	ENSP00000316328		CCDS10544.1			1	
MUC8	0	LGGM	GRCh37	12	133049800	133049801	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H060795	H060795N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	10	10	.	.	ENST00000595994.1:c.476_477insA	p.Arg160ProfsTer145	p.R160Pfs*145	ENST00000595994		159	acc/acAc	0	1	1	UPI00015DFFBC	0		ENST00000595994		ENSG00000269676	7519		20			HGNC	p.T159fs		MUC8		insertion							ENST00000595994	protein_coding					T/TX		T		476-477/927				M0R3A3_HUMAN			YES	MUC8,frameshift_variant,p.Arg160ProfsTer145,ENST00000595994,;							HIGH	476-477/927					Transcript			.	ENSP00000473092					1	
FAM180A	0	LGGM	GRCh37	7	135418795	135418795	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	31	4	.	.	ENST00000338588.3:c.450G>A	p.Gln150=	p.Q150=	ENST00000338588	NM_205855.3	150	caG/caA	0	1	1	UPI0000035A01	0		ENST00000338588		ENSG00000189320	33773		35			HGNC	p.Q150Q		FAM180A		SNV							ENST00000338588	protein_coding			Pfam_domain:PF15173		Q		T		716/1800							YES	FAM180A,synonymous_variant,p.=,ENST00000338588,NM_205855.3;FAM180A,synonymous_variant,p.=,ENST00000415751,;SLC13A4,upstream_gene_variant,,ENST00000378428,;SLC13A4,upstream_gene_variant,,ENST00000422620,;FAM180A,intron_variant,,ENST00000435869,;FAM180A,synonymous_variant,p.=,ENST00000444083,;							LOW	450/522		F180A_HUMAN			Transcript			.	ENSP00000342336		CCDS5841.1			1	
ESAM	0	LGGM	GRCh37	11	124628357	124628357	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	7	4	.	.	ENST00000278927.5:c.137G>A	p.Gly46Glu	p.G46E	ENST00000278927	NM_138961.2	46	gGg/gAg	0	1	1	UPI000003721A	0	NA	ENST00000278927		ENSG00000149564	17474		11	-0.895		HGNC	p.G46E		ESAM		SNV							ENST00000417453	protein_coding	getma.org/?cm=var&var=hg19,11,124628357,C,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12231:SF8,hmmpanther:PTHR12231,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/E		T	neutral	267/1826		getma.org/?cm=msa&ty=f&p=ESAM_HUMAN&rb=27&re=144&var=G46E	tolerated(0.89)				YES	ESAM,missense_variant,p.Gly46Glu,ENST00000278927,NM_138961.2;ESAM,intron_variant,,ENST00000442070,;ESAM,intron_variant,,ENST00000435477,;ESAM,intron_variant,,ENST00000444566,;RP11-677M14.3,upstream_gene_variant,,ENST00000504932,;RP11-677M14.3,upstream_gene_variant,,ENST00000532579,;ESAM,missense_variant,p.Gly46Glu,ENST00000417453,;ESAM,upstream_gene_variant,,ENST00000464067,;ESAM,upstream_gene_variant,,ENST00000485116,;							MODERATE	137/1173	G46E	ESAM_HUMAN			Transcript		benign(0.004)	.	ENSP00000278927		CCDS8453.1			1	
FSCB	0	LGGM	GRCh37	14	44974154	44974155	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	novel	by Submitter	H060795	H060795N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	18	10	.	.	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro	p.P679_A680insSEVQPPPAEEAP	ENST00000340446	NM_032135.3	679	cct/ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	0	1	1	UPI00001FD466	0		ENST00000340446		ENSG00000189139	20494		28			HGNC	p.P679delinsPSEVQPPPAEEAP	rs375198387	FSCB		insertion	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.3937						ENST00000340446	protein_coding			Low_complexity_(Seg):seg		P/PSEVQPPPAEEAP	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.4663	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG		2328-2329/2938							YES	FSCB,inframe_insertion,p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro,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,;							MODERATE	2036-2037/2478		FSCB_HUMAN			Transcript			.	ENSP00000344579		CCDS9679.1			1	
UCKL1	0	LGGM	GRCh37	20	62577878	62577878	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	13	5	.	.	ENST00000354216.6:c.232A>G	p.Thr78Ala	p.T78A	ENST00000354216	NM_017859.3	78	Acc/Gcc	0	1	1	UPI000004A08C	0	NA	ENST00000354216		ENSG00000198276	15938		18	1.995		HGNC	p.T78A		UCKL1		SNV							ENST00000358711	protein_coding	getma.org/?cm=var&var=hg19,20,62577878,T,C&fts=all		hmmpanther:PTHR10285:SF64,hmmpanther:PTHR10285		T/A		C	medium	275/1833		getma.org/?cm=msa&ty=f&p=UCKL1_HUMAN&rb=1&re=99&var=T78A	deleterious(0.04)	Q5JWV1_HUMAN			YES	UCKL1,missense_variant,p.Thr63Ala,ENST00000369908,NM_001193379.1;UCKL1,missense_variant,p.Thr78Ala,ENST00000358711,;UCKL1,missense_variant,p.Thr78Ala,ENST00000354216,NM_017859.3;UCKL1,missense_variant,p.Thr78Ala,ENST00000369892,;UCKL1,upstream_gene_variant,,ENST00000430743,;MIR647,upstream_gene_variant,,ENST00000384823,;MIR1914,upstream_gene_variant,,ENST00000607800,;UCKL1,non_coding_transcript_exon_variant,,ENST00000483710,;UCKL1,upstream_gene_variant,,ENST00000492660,;							MODERATE	232/1647	T78A	UCKL1_HUMAN			Transcript		possibly_damaging(0.486)	.	ENSP00000346155		CCDS13547.1			1	
CERCAM	0	LGGM	GRCh37	9	131196402	131196402	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	12	5	.	.	ENST00000372838.4:c.1225C>T	p.Arg409Trp	p.R409W	ENST00000372838	NM_016174.4	409	Cgg/Tgg	0	1	1	UPI000046FF85	0	NA	ENST00000372838		ENSG00000167123	23723	0.000173	17	1.755		HGNC	p.R409W	rs776156593	CERCAM		SNV							ENST00000372838	protein_coding	getma.org/?cm=var&var=hg19,9,131196402,C,T&fts=all		Pfam_domain:PF01755,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF9		R/W		T	low	1623/2685	3.01E-05	getma.org/?cm=msa&ty=f&p=GT253_HUMAN&rb=319&re=503&var=R409W	deleterious(0)	B7ZBT0_HUMAN,B7ZBS9_HUMAN,B7ZBS8_HUMAN			YES	CERCAM,missense_variant,p.Arg331Trp,ENST00000372842,NM_001286760.1;CERCAM,missense_variant,p.Arg409Trp,ENST00000372838,NM_016174.4;RP11-339B21.10,downstream_gene_variant,,ENST00000610052,;CERCAM,non_coding_transcript_exon_variant,,ENST00000472858,;CERCAM,intron_variant,,ENST00000487001,;CERCAM,non_coding_transcript_exon_variant,,ENST00000463535,;	0.000231						MODERATE	1225/1788	R409W	GT253_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000361929	4.94E-05	CCDS6901.2			1	
EPDR1	0	LGGM	GRCh37	7	37960352	37960365	+	5_prime_UTR_variant	5'UTR	DEL	CCCGGCTACCGGGA	CCCGGCTACCGGGA	-	novel	by Submitter	H060795	H060795N.bam	CCCGGCTACCGGGA	CCCGGCTACCGGGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	11	5	.	.	ENST00000199448.4:c.-189_-176del		*63*	ENST00000199448	NM_017549.4			0	1	1	UPI000012EF12	0		ENST00000199448		ENSG00000086289	17572		16			HGNC	p.57_62del		EPDR1		deletion							ENST00000559325	protein_coding							-		190-203/2599				D6RIH7_HUMAN			YES	EPDR1,frameshift_variant,p.Pro58SerfsTer37,ENST00000559325,;EPDR1,5_prime_UTR_variant,,ENST00000199448,NM_017549.4;EPDR1,5_prime_UTR_variant,,ENST00000423717,NM_001242946.1;SFRP4,intron_variant,,ENST00000447200,;EPDR1,intron_variant,,ENST00000476620,;SFRP4,upstream_gene_variant,,ENST00000436072,NM_003014.3;EPDR1,upstream_gene_variant,,ENST00000425345,NM_001242948.1;							MODIFIER	-/675		EPDR1_HUMAN			Transcript	1		.	ENSP00000199448		CCDS5454.2			1	
TF	0	LGGM	GRCh37	3	133497454	133497454	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	26	5	.	.	ENST00000402696.3:c.2087G>A	p.Arg696His	p.R696H	ENST00000402696	NM_001063.3	696	cGt/cAt	0	1	1	UPI000013D5A6	0	getma.org/pdb.php?prot=TRFE_HUMAN&from=684&to=698&var=R696H	ENST00000402696		ENSG00000091513	11740	0.000349	31	-2.365		HGNC	p.R569H	rs57329669	TF	0.000368	SNV			1				ENST00000264998	protein_coding	getma.org/?cm=var&var=hg19,3,133497454,G,A&fts=all		Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10		R/H		A	neutral	2572/2968	3.01E-05	getma.org/?cm=msa&ty=f&p=TRFE_HUMAN&rb=654&re=698&var=R696H	tolerated(1)	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,missense_variant,p.Arg696His,ENST00000402696,NM_001063.3;TF,missense_variant,p.Arg569His,ENST00000264998,;TF,3_prime_UTR_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;	0.000116						MODERATE	2087/2097	R696H	TRFE_HUMAN			Transcript		benign(0)	.	ENSP00000385834	0.000115	CCDS3080.1	0.00111		1	
KCNK15	0	LGGM	GRCh37	20	43379322	43379322	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	7	5	.	.	ENST00000372861.3:c.836G>T	p.Arg279Leu	p.R279L	ENST00000372861	NM_022358.3	279	cGc/cTc	0	1	1	UPI000003EA1C	0	NA	ENST00000372861		ENSG00000124249	13814		12	0.345		HGNC	p.R279L		KCNK15		SNV							ENST00000372861	protein_coding	getma.org/?cm=var&var=hg19,20,43379322,G,T&fts=all		PIRSF_domain:PIRSF038061,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18		R/L		T	neutral	967/1320		getma.org/?cm=msa&ty=f&p=KCNKF_HUMAN&rb=249&re=330&var=R279L	tolerated_low_confidence(0.08)				YES	KCNK15,missense_variant,p.Arg279Leu,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_001205317.1,NM_182970.3;RP11-445H22.4,upstream_gene_variant,,ENST00000427303,;RP11-445H22.4,upstream_gene_variant,,ENST00000445420,;							MODERATE	836/993	R279L	KCNKF_HUMAN			Transcript		benign(0.004)	.	ENSP00000361952		CCDS13337.1			1	
ABCD3	0	LGGM	GRCh37	1	94948725	94948725	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	8	7	.	.	ENST00000370214.4:c.828-1G>C		p.X276_splice	ENST00000370214	NM_002858.3			0	1	1	UPI000004C4C7	0		ENST00000370214		ENSG00000117528	67		15			HGNC	-		ABCD3		SNV							ENST00000454898	protein_coding							C		-/3538				F5GYC1_HUMAN			YES	ABCD3,splice_acceptor_variant,,ENST00000370214,NM_002858.3;ABCD3,splice_acceptor_variant,,ENST00000536817,;ABCD3,splice_acceptor_variant,,ENST00000454898,;ABCD3,intron_variant,,ENST00000394233,;ABCD3,downstream_gene_variant,,ENST00000315713,NM_001122674.1;ABCD3,splice_acceptor_variant,,ENST00000493416,;ABCD3,non_coding_transcript_exon_variant,,ENST00000484213,;							HIGH	828/1980		ABCD3_HUMAN			Transcript			.	ENSP00000359233		CCDS749.1			1	
C3	0	LGGM	GRCh37	19	6713450	6713450	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	24	7	.	.	ENST00000245907.6:c.844A>T	p.Ile282Phe	p.I282F	ENST00000245907	NM_000064.2	282	Att/Ttt	0	1	1	UPI000013EC9B	0	getma.org/pdb.php?prot=CO3_HUMAN&from=225&to=424&var=I282F	ENST00000245907		ENSG00000125730	1318		31	2.585		HGNC	p.I282F		C3		SNV			1				ENST00000245907	protein_coding	getma.org/?cm=var&var=hg19,19,6713450,T,A&fts=all		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81		I/F		A	medium	937/5263		getma.org/?cm=msa&ty=f&p=CO3_HUMAN&rb=225&re=424&var=I282F	tolerated(0.37)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	C3,missense_variant,p.Ile282Phe,ENST00000245907,NM_000064.2;C3,downstream_gene_variant,,ENST00000600744,;C3,non_coding_transcript_exon_variant,,ENST00000597442,;C3,upstream_gene_variant,,ENST00000594270,;C3,non_coding_transcript_exon_variant,,ENST00000595577,;C3,downstream_gene_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000600763,;							MODERATE	844/4992	I282F	CO3_HUMAN			Transcript		benign(0.165)	.	ENSP00000245907		CCDS32883.1			1	
NIN	0	LGGM	GRCh37	14	51259574	51259574	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	22	8	.	.	ENST00000382041.3:c.291A>G	p.Lys97=	p.K97=	ENST00000382041	NM_016350.4	97	aaA/aaG	0	1	1	UPI0000DBEF14	0		ENST00000382041		ENSG00000100503	14906		30			HGNC	p.K97K		NIN		SNV			1				ENST00000496749	protein_coding			hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11,Low_complexity_(Seg):seg		K		C		482/6496				H7C162_HUMAN,E9PJH9_HUMAN			YES	NIN,synonymous_variant,p.=,ENST00000245441,NM_020921.3;NIN,synonymous_variant,p.=,ENST00000530997,;NIN,synonymous_variant,p.=,ENST00000389868,;NIN,synonymous_variant,p.=,ENST00000453196,NM_182944.2;NIN,synonymous_variant,p.=,ENST00000324330,;NIN,synonymous_variant,p.=,ENST00000382041,NM_016350.4,NM_182946.1;NIN,synonymous_variant,p.=,ENST00000382043,;NIN,synonymous_variant,p.=,ENST00000453401,;NIN,synonymous_variant,p.=,ENST00000486950,;NIN,synonymous_variant,p.=,ENST00000496749,;NIN,non_coding_transcript_exon_variant,,ENST00000486200,;NIN,synonymous_variant,p.=,ENST00000476352,;							LOW	291/6273		NIN_HUMAN			Transcript			.	ENSP00000371472		CCDS32079.1			1	
TTC3	0	LGGM	GRCh37	21	38564504	38564504	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	33	8	.	.	ENST00000399017.2:c.5207C>G	p.Ala1736Gly	p.A1736G	ENST00000399017	NM_003316.3	1736	gCc/gGc	0	1		UPI00001B043E	0	NA	ENST00000354749		ENSG00000182670	12393		41	0.665		HGNC	p.A1736G		TTC3		SNV							ENST00000355666	protein_coding	getma.org/?cm=var&var=hg19,21,38564504,C,G&fts=all		hmmpanther:PTHR17550		A/G		G	neutral	6675/9084		getma.org/?cm=msa&ty=f&p=TTC3_HUMAN&rb=741&re=1844&var=A1736G	tolerated(0.21)	E9PMS7_HUMAN,E9PMP8_HUMAN				TTC3,missense_variant,p.Ala1736Gly,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Ala1736Gly,ENST00000354749,;TTC3,missense_variant,p.Ala1736Gly,ENST00000355666,NM_001001894.1;TTC3,intron_variant,,ENST00000428693,;TTC3-AS1,intron_variant,,ENST00000424733,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,upstream_gene_variant,,ENST00000488522,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;							MODERATE	5207/6078	A1736G	TTC3_HUMAN			Transcript		benign(0.003)	.	ENSP00000346791		CCDS13651.1			1	
KCNA10	0	LGGM	GRCh37	1	111060035	111060035	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	37	8	.	.	ENST00000369771.2:c.1375A>T	p.Asn459Tyr	p.N459Y	ENST00000369771	NM_005549.2	459	Aac/Tac	0	1	1	UPI0000071B2B	0	NA	ENST00000369771		ENSG00000143105	6219		45	2.395		HGNC	p.N459Y		KCNA10		SNV							ENST00000369771	protein_coding	getma.org/?cm=var&var=hg19,1,111060035,T,A&fts=all		Gene3D:1.10.287.70,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF44,Superfamily_domains:SSF81324		N/Y		A	medium	1763/1959		getma.org/?cm=msa&ty=f&p=KCA10_HUMAN&rb=457&re=511&var=N459Y	deleterious(0)	Q7KYZ7_HUMAN			YES	KCNA10,missense_variant,p.Asn459Tyr,ENST00000369771,NM_005549.2;							MODERATE	1375/1536	N459Y	KCA10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358786		CCDS826.1			1	
KL	0	LGGM	GRCh37	13	33629279	33629279	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	124	8	.	.	ENST00000380099.3:c.1426C>T	p.Leu476Phe	p.L476F	ENST00000380099	NM_004795.3	476	Ctc/Ttc	0	1	1	UPI000013CEBA	0	getma.org/pdb.php?prot=KLOT_HUMAN&from=377&to=506&var=L476F	ENST00000380099		ENSG00000133116	6344		132	1.715		HGNC	p.L476F		KL		SNV			1				ENST00000380099	protein_coding	getma.org/?cm=var&var=hg19,13,33629279,C,T&fts=all		hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445,Prints_domain:PR00131		L/F		T	low	1434/5006		getma.org/?cm=msa&ty=f&p=KLOT_HUMAN&rb=377&re=506&var=L476F	deleterious(0)	G3XKV3_HUMAN			YES	KL,missense_variant,p.Leu476Phe,ENST00000380099,NM_004795.3;KL,missense_variant,p.Leu169Phe,ENST00000426690,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;							MODERATE	1426/3039	L476F	KLOT_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000369442		CCDS9347.1			1	
PACS1	0	LGGM	GRCh37	11	66010708	66010708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	16	10	.	.	ENST00000320580.4:c.2849A>G	p.Lys950Arg	p.K950R	ENST00000320580	NM_018026.3	950	aAg/aGg	0	1	1	UPI0000190973	0	NA	ENST00000320580		ENSG00000175115	30032		26	2.31		HGNC	p.K950R		PACS1		SNV			1				ENST00000320580	protein_coding	getma.org/?cm=var&var=hg19,11,66010708,A,G&fts=all		hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280,Pfam_domain:PF10254		K/R		G	medium	2882/4392		getma.org/?cm=msa&ty=f&p=PACS1_HUMAN&rb=548&re=961&var=K950R	deleterious(0.03)	Q9NTH2_HUMAN,E9PSG7_HUMAN,E9PSE1_HUMAN,E9PNZ9_HUMAN,B4DF77_HUMAN			YES	PACS1,missense_variant,p.Lys950Arg,ENST00000320580,NM_018026.3;PACS1,missense_variant,p.Lys486Arg,ENST00000529757,;PACS1,missense_variant,p.Lys94Arg,ENST00000529677,;PACS1,missense_variant,p.Lys78Arg,ENST00000524815,;PACS1,downstream_gene_variant,,ENST00000531597,;RP11-755F10.1,downstream_gene_variant,,ENST00000531086,;PACS1,downstream_gene_variant,,ENST00000525798,;							MODERATE	2849/2892	K950R	PACS1_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000316454		CCDS8129.1			1	
EVC	0	LGGM	GRCh37	4	5811280	5811280	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	37	12	.	.	ENST00000382674.2:c.2724C>A	p.Ala908=	p.A908=	ENST00000382674		908	gcC/gcA	0	1		UPI000012A2A5	0		ENST00000264956		ENSG00000072840	3497		49			HGNC	p.A908A		EVC		SNV			1				ENST00000264956	protein_coding			hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF12		A		A		2908/6431				Q4W5F2_HUMAN,Q4W5A3_HUMAN				EVC,synonymous_variant,p.=,ENST00000382674,;EVC,synonymous_variant,p.=,ENST00000264956,NM_153717.2;CRMP1,intron_variant,,ENST00000506216,;							LOW	2724/2979		EVC_HUMAN			Transcript			.	ENSP00000264956		CCDS3383.1			1	
MUC7	0	LGGM	GRCh37	4	71347558	71347558	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	51	12	.	.	ENST00000413702.1:c.1097T>C	p.Leu366Pro	p.L366P	ENST00000413702	NM_001145006.1	366	cTa/cCa	0	1		UPI000013E9DD	0	NA	ENST00000304887		ENSG00000171195	7518		63	0.55		HGNC	p.L366P		MUC7		SNV			1				ENST00000413702	protein_coding	getma.org/?cm=var&var=hg19,4,71347558,T,C&fts=all				L/P		C	neutral	1287/2443		getma.org/?cm=msa&ty=f&p=MUC7_HUMAN&rb=201&re=377&var=L366P	deleterious_low_confidence(0.01)	D6RHX1_HUMAN				MUC7,missense_variant,p.Leu366Pro,ENST00000413702,NM_001145006.1;MUC7,missense_variant,p.Leu366Pro,ENST00000456088,NM_001145007.1;MUC7,missense_variant,p.Leu366Pro,ENST00000304887,NM_152291.2;MUC7,downstream_gene_variant,,ENST00000505411,;MUC7,downstream_gene_variant,,ENST00000514512,;MUC7,downstream_gene_variant,,ENST00000504482,;							MODERATE	1097/1134	L366P	MUC7_HUMAN			Transcript		unknown(0)	.	ENSP00000302021		CCDS3541.1			1	
CCL24	0	LGGM	GRCh37	7	75442676	75442676	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	23	14	.	.	ENST00000416943.1:c.139G>C	p.Val47Leu	p.V47L	ENST00000416943	NM_002991.2	47	Gtg/Ctg	0	1		UPI0000050AFE	0	getma.org/pdb.php?prot=CCL24_HUMAN&from=27&to=89&var=V47L	ENST00000222902		ENSG00000106178	10623		37	1.55		HGNC	p.V47L		CCL24		SNV							ENST00000416943	protein_coding	getma.org/?cm=var&var=hg19,7,75442676,C,G&fts=all		Superfamily_domains:SSF54117,SMART_domains:SM00199,Pfam_domain:PF00048,Gene3D:2.40.50.40,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF13		V/L		G	low	230/582		getma.org/?cm=msa&ty=f&p=CCL24_HUMAN&rb=27&re=89&var=V47L	tolerated(0.11)					CCL24,missense_variant,p.Val47Leu,ENST00000416943,NM_002991.2;CCL24,missense_variant,p.Val47Leu,ENST00000222902,NM_002991.2;							MODERATE	139/360	V47L	CCL24_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000222902		CCDS34670.1			1	
EXOC1	0	LGGM	GRCh37	4	56734649	56734649	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	48	16	.	.	ENST00000381295.2:c.563T>G	p.Phe188Cys	p.F188C	ENST00000381295	NM_001024924.1	188	tTt/tGt	0	1		UPI000013574F	0	NA	ENST00000346134		ENSG00000090989	30380		64	2.605		HGNC	p.F188C		EXOC1		SNV							ENST00000381295	protein_coding	getma.org/?cm=var&var=hg19,4,56734649,T,G&fts=all		Pfam_domain:PF09763,hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19		F/C		G	medium	696/3357		getma.org/?cm=msa&ty=f&p=EXOC1_HUMAN&rb=170&re=871&var=F188C	deleterious(0)					EXOC1,missense_variant,p.Phe188Cys,ENST00000381295,NM_001024924.1;EXOC1,missense_variant,p.Phe188Cys,ENST00000346134,NM_018261.3;EXOC1,missense_variant,p.Phe188Cys,ENST00000349598,NM_178237.2;EXOC1,non_coding_transcript_exon_variant,,ENST00000505501,;							MODERATE	563/2685	F188C	EXOC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000326514		CCDS3502.1			1	
C7orf31	0	LGGM	GRCh37	7	25175607	25175607	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	26	18	.	.	ENST00000409280.1:c.1757A>G	p.Tyr586Cys	p.Y586C	ENST00000409280		586	tAt/tGt	0	1		UPI000013DD61	0	NA	ENST00000283905		ENSG00000153790	21722		44	1.87		HGNC	p.Y586C	rs145411485	C7orf31		SNV	A:0.0002						ENST00000283905	protein_coding	getma.org/?cm=var&var=hg19,7,25175607,T,C&fts=all		hmmpanther:PTHR31393		Y/C	A:0	C	low	2420/2673	1.52E-05	getma.org/?cm=msa&ty=f&p=CG031_HUMAN&rb=510&re=588&var=Y586C	deleterious(0.01)	C9JTB1_HUMAN,C9JF06_HUMAN,C9J431_HUMAN				C7orf31,missense_variant,p.Tyr586Cys,ENST00000409280,;C7orf31,missense_variant,p.Tyr586Cys,ENST00000283905,NM_138811.3;							MODERATE	1757/1773	Y586C	CG031_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000283905	8.24E-06	CCDS5394.1			1	
ADGB	0	LGGM	GRCh37	6	147123110	147123110	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	67	18	.	.	ENST00000397944.3:c.4781T>G	p.Leu1594Ter	p.L1594*	ENST00000397944	NM_024694.3	1594	tTa/tGa	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		85	0		HGNC	p.L39X		ADGB		SNV							ENST00000367489	protein_coding	getma.org/?cm=var&var=hg19,6,147123110,T,G&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		L/*		G	NA	4857/5325		NA					YES	ADGB,stop_gained,p.Leu1594Ter,ENST00000397944,NM_024694.3;ADGB,stop_gained,p.Leu552Ter,ENST00000367490,;ADGB,stop_gained,p.Leu39Ter,ENST00000367489,;ADGB,3_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,downstream_gene_variant,,ENST00000562413,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000480328,;KATNBL1P6,downstream_gene_variant,,ENST00000453433,;							HIGH	4781/5004	L1594*	ADGB_HUMAN			Transcript			.	ENSP00000381036					1	
TSPAN6	0	LGGM	GRCh37	X	99890566	99890566	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	0	19	.	.	ENST00000373020.4:c.265A>G	p.Met89Val	p.M89V	ENST00000373020	NM_003270.3	89	Atg/Gtg	0	1	1	UPI0000049052	0	NA	ENST00000373020		ENSG00000000003	11858		19	2.865		HGNC	p.M89V		TSPAN6		SNV							ENST00000373020	protein_coding	getma.org/?cm=var&var=hg19,X,99890566,T,C&fts=all		hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF169,PROSITE_patterns:PS00421,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259		M/V		C	medium	377/2206		getma.org/?cm=msa&ty=f&p=TSN6_HUMAN&rb=16&re=237&var=M89V	deleterious(0)				YES	TSPAN6,missense_variant,p.Met89Val,ENST00000373020,NM_003270.3,NM_001278741.1,NM_001278740.1;TSPAN6,non_coding_transcript_exon_variant,,ENST00000496771,;TSPAN6,non_coding_transcript_exon_variant,,ENST00000494424,;							MODERATE	265/738	M89V	TSN6_HUMAN			Transcript		possibly_damaging(0.506)	.	ENSP00000362111		CCDS14470.1			1	
CHGB	0	LGGM	GRCh37	20	5904489	5904489	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	56	21	.	.	ENST00000378961.4:c.1699A>G	p.Asn567Asp	p.N567D	ENST00000378961	NM_001819.2	567	Aac/Gac	0	1	1	UPI000013C63D	0	NA	ENST00000378961		ENSG00000089199	1930		77	1.3		HGNC	p.N567D		CHGB		SNV							ENST00000378961	protein_coding	getma.org/?cm=var&var=hg19,20,5904489,A,G&fts=all		Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583		N/D		G	low	1903/2550		getma.org/?cm=msa&ty=f&p=SCG1_HUMAN&rb=26&re=677&var=N567D	tolerated(0.21)				YES	CHGB,missense_variant,p.Asn567Asp,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;							MODERATE	1699/2034	N567D	SCG1_HUMAN			Transcript		possibly_damaging(0.814)	.	ENSP00000368244		CCDS13092.1			1	
GK2	0	LGGM	GRCh37	4	80328828	80328828	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	48	21	.	.	ENST00000358842.3:c.527G>A	p.Gly176Asp	p.G176D	ENST00000358842	NM_033214.2	176	gGt/gAt	0	1	1	UPI000011E629	0	getma.org/pdb.php?prot=GLPK2_HUMAN&from=12&to=266&var=G176D	ENST00000358842		ENSG00000196475	4291		69	4.155		HGNC	p.G176D	rs749245284	GK2		SNV							ENST00000358842	protein_coding	getma.org/?cm=var&var=hg19,4,80328828,C,T&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF46,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR01311		G/D		T	high	545/1865	1.50E-05	getma.org/?cm=msa&ty=f&p=GLPK2_HUMAN&rb=12&re=266&var=G176D	deleterious(0)				YES	GK2,missense_variant,p.Gly176Asp,ENST00000358842,NM_033214.2;							MODERATE	527/1662	G176D	GLPK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351706	8.24E-06	CCDS3585.1			1	
ADGB	0	LGGM	GRCh37	6	147122987	147122987	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	57	21	.	.	ENST00000397944.3:c.4658T>G	p.Leu1553Arg	p.L1553R	ENST00000397944	NM_024694.3	1553	cTg/cGg	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		78	0.695		HGNC	p.L1553R		ADGB		SNV							ENST00000397944	protein_coding	getma.org/?cm=var&var=hg19,6,147122987,T,G&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		L/R		G	neutral	4734/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=1401&re=1600&var=L1553R	deleterious(0.03)				YES	ADGB,missense_variant,p.Leu1553Arg,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Leu511Arg,ENST00000367490,;ADGB,3_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;ADGB,upstream_gene_variant,,ENST00000367489,;KATNBL1P6,downstream_gene_variant,,ENST00000562413,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000480328,;KATNBL1P6,downstream_gene_variant,,ENST00000453433,;							MODERATE	4658/5004	L1553R	ADGB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000381036					1	
CEP41	0	LGGM	GRCh37	7	130039888	130039888	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	71	21	.	.	ENST00000223208.5:c.965A>G	p.Asp322Gly	p.D322G	ENST00000223208	NM_018718.2	322	gAt/gGt	0	1	1	UPI000006D546	0	NA	ENST00000223208		ENSG00000106477	12370		92	1.78		HGNC	p.D322G		CEP41		SNV			1				ENST00000223208	protein_coding	getma.org/?cm=var&var=hg19,7,130039888,T,C&fts=all		hmmpanther:PTHR13253,hmmpanther:PTHR13253:SF53		D/G		C	low	1236/6513		getma.org/?cm=msa&ty=f&p=CEP41_HUMAN&rb=261&re=373&var=D322G	deleterious(0.03)	C9JXA0_HUMAN,C9J9X8_HUMAN,C9J6R3_HUMAN,C9IZ34_HUMAN			YES	CEP41,missense_variant,p.Asp322Gly,ENST00000223208,NM_018718.2,NM_001257158.1;CEP41,intron_variant,,ENST00000541543,NM_001257159.1;CEP41,intron_variant,,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,;CEP41,downstream_gene_variant,,ENST00000471201,;							MODERATE	965/1122	D322G	CEP41_HUMAN			Transcript		benign(0.016)	.	ENSP00000223208		CCDS5821.1			1	
SORBS1	0	LGGM	GRCh37	10	97096311	97096311	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	11	22	.	.	ENST00000371247.2:c.3606G>A	p.Ala1202=	p.A1202=	ENST00000371247		1202	gcG/gcA	0	1		UPI000013D6B7	0		ENST00000361941		ENSG00000095637	14565	8.75E-05	33			HGNC	p.A1202A	rs373366585	SORBS1		SNV	T:0.0002			0.000199			ENST00000371247	protein_coding			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF4		A	T:0	T		3633/3940								SORBS1,synonymous_variant,p.=,ENST00000371247,;SORBS1,synonymous_variant,p.=,ENST00000371227,;SORBS1,synonymous_variant,p.=,ENST00000371246,;SORBS1,synonymous_variant,p.=,ENST00000361941,NM_001034954.1;SORBS1,synonymous_variant,p.=,ENST00000277982,NM_001034955.1;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,,ENST00000354106,;SORBS1,intron_variant,,ENST00000371245,NM_001034956.1;SORBS1,intron_variant,,ENST00000371239,;SORBS1,intron_variant,,ENST00000371241,NM_006434.2,NM_001034957.1;							LOW	3606/3879		SRBS1_HUMAN			Transcript			.	ENSP00000355136	2.47E-05	CCDS31255.1			1	
KIAA1279	0	LGGM	GRCh37	10	70765522	70765522	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	17	23	.	.	ENST00000361983.4:c.640C>G	p.Leu214Val	p.L214V	ENST00000361983	NM_015634.3	214	Cta/Gta	0	1	1	UPI000006FCAF	0	NA	ENST00000361983		ENSG00000198954	23419		40	2.69		HGNC	p.L214V		KIAA1279		SNV			1				ENST00000361983	protein_coding	getma.org/?cm=var&var=hg19,10,70765522,C,G&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR20956,hmmpanther:PTHR20956:SF0,Superfamily_domains:SSF48452		L/V		G	medium	742/2534		getma.org/?cm=msa&ty=f&p=KBP_HUMAN&rb=201&re=245&var=L214V	deleterious(0.01)				YES	KIAA1279,missense_variant,p.Leu214Val,ENST00000361983,NM_015634.3;KIAA1279,upstream_gene_variant,,ENST00000481912,;							MODERATE	640/1866	L214V	KBP_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000354848		CCDS7284.1			1	
FAT3	0	LGGM	GRCh37	11	92568068	92568068	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	27	23	.	.	ENST00000298047.6:c.9904G>T	p.Glu3302Ter	p.E3302*	ENST00000298047		3302	Gaa/Taa	0	1	1	UPI000050B6C6	0	NA	ENST00000298047		ENSG00000165323	23112		50	0		HGNC	p.E3152X		FAT3		SNV							ENST00000525166	protein_coding	getma.org/?cm=var&var=hg19,11,92568068,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/*		T	NA	9921/19126		NA		E9PQ73_HUMAN			YES	FAT3,stop_gained,p.Glu3302Ter,ENST00000298047,;FAT3,stop_gained,p.Glu3302Ter,ENST00000409404,NM_001008781.2;FAT3,stop_gained,p.Glu3152Ter,ENST00000525166,;							HIGH	9904/13770	E3302*	FAT3_HUMAN			Transcript			.	ENSP00000298047					1	
SMARCE1	0	LGGM	GRCh37	17	38798777	38798777	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	74	23	.	.	ENST00000348513.6:c.86A>G	p.Asn29Ser	p.N29S	ENST00000348513	NM_003079.4	29	aAt/aGt	0	1	1	UPI000006FB55	0	NA	ENST00000348513		ENSG00000073584	11109		97	0.805		HGNC	p.N13S	rs760888905	SMARCE1		SNV			1	9.61E-05			ENST00000478349	protein_coding	getma.org/?cm=var&var=hg19,17,38798777,T,C&fts=all				N/S		C	low	867/5840		getma.org/?cm=msa&ty=f&p=SMCE1_HUMAN&rb=1&re=65&var=N29S	tolerated(0.14)	J3QR61_HUMAN,J3QKX6_HUMAN,J3KT85_HUMAN,C0IMW8_HUMAN,B4DGM3_HUMAN			YES	SMARCE1,missense_variant,p.Asn29Ser,ENST00000348513,NM_003079.4;SMARCE1,missense_variant,p.Asn29Ser,ENST00000474246,;SMARCE1,missense_variant,p.Asn11Ser,ENST00000431889,;SMARCE1,missense_variant,p.Asn13Ser,ENST00000478349,;SMARCE1,missense_variant,p.Asn29Ser,ENST00000582955,;SMARCE1,missense_variant,p.Asn11Ser,ENST00000580654,;SMARCE1,intron_variant,,ENST00000544009,;SMARCE1,intron_variant,,ENST00000377808,;SMARCE1,intron_variant,,ENST00000400122,;SMARCE1,intron_variant,,ENST00000580419,;SMARCE1,intron_variant,,ENST00000578044,;SMARCE1,intron_variant,,ENST00000577721,;SMARCE1,missense_variant,p.Asn29Ser,ENST00000481231,;SMARCE1,synonymous_variant,p.=,ENST00000578112,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000469334,;KRT222,intron_variant,,ENST00000476049,;SMARCE1,intron_variant,,ENST00000493660,;SMARCE1,upstream_gene_variant,,ENST00000578995,;							MODERATE	86/1236	N29S	SMCE1_HUMAN			Transcript		benign(0.292)	.	ENSP00000323967	8.24E-06	CCDS11370.1			1	
PEG3	0	LGGM	GRCh37	19	57327137	57327137	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	36	25	.	.	ENST00000326441.9:c.2673T>C	p.Tyr891=	p.Y891=	ENST00000326441	NM_006210.2	891	taT/taC	0	1	1	UPI000006D36D	0		ENST00000326441		ENSG00000198300	8826		61			HGNC	p.Y891Y		PEG3		SNV							ENST00000599577	protein_coding			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78		Y		G		3037/8723				M0QXG1_HUMAN			YES	PEG3,synonymous_variant,p.=,ENST00000326441,NM_006210.2;PEG3,synonymous_variant,p.=,ENST00000423103,NM_001146184.1;PEG3,synonymous_variant,p.=,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,synonymous_variant,p.=,ENST00000599534,NM_001146186.1;PEG3,synonymous_variant,p.=,ENST00000599577,;PEG3,synonymous_variant,p.=,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,;							LOW	2673/4767		PEG3_HUMAN			Transcript			.	ENSP00000326581		CCDS12948.1			1	
CHRNA1	0	LGGM	GRCh37	2	175622318	175622318	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	16	27	.	.	ENST00000261007.5:c.395G>A	p.Arg132His	p.R132H	ENST00000261007	NM_001039523.2	132	cGc/cAc	0	1	1	UPI000012524E	0	getma.org/pdb.php?prot=ACHA_HUMAN&from=97&to=256&var=R132H	ENST00000261007		ENSG00000138435	1955		43	2.445		HGNC	p.R132H	rs376844505	CHRNA1		SNV	T:0		1	9.68E-05			ENST00000261007	protein_coding	getma.org/?cm=var&var=hg19,2,175622318,C,T&fts=all		hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00252		R/H	T:0.0001	T	medium	462/1980	9.00E-05	getma.org/?cm=msa&ty=f&p=ACHA_HUMAN&rb=97&re=256&var=R132H	deleterious(0.03)	A9X444_HUMAN			YES	CHRNA1,missense_variant,p.Arg107His,ENST00000348749,NM_000079.3;CHRNA1,missense_variant,p.Arg132His,ENST00000261007,NM_001039523.2;CHRNA1,missense_variant,p.Arg107His,ENST00000409323,;CHRNA1,missense_variant,p.Arg107His,ENST00000409219,;CHRNA1,intron_variant,,ENST00000409542,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,intron_variant,,ENST00000435083,;	0.000116						MODERATE	395/1449	R132H	ACHA_HUMAN			Transcript		benign(0.005)	.	ENSP00000261007	6.59E-05	CCDS33331.1			1	
SPATA31E1	0	LGGM	GRCh37	9	90499936	90499948	+	frameshift_variant	Frame_Shift_Del	DEL	GAAATGCATGCAA	GAAATGCATGCAA	-	novel	by Submitter	H060795	H060795N.bam	GAAATGCATGCAA	GAAATGCATGCAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	33	28	.	.	ENST00000325643.5:c.536_548del	p.Lys179IlefsTer25	p.K179Ifs*25	ENST00000325643	NM_178828.4	178	ggGAAATGCATGCAA/gg	0	1	1	UPI000036764A	0		ENST00000325643		ENSG00000177992	26672		61			HGNC	p.178_182del		SPATA31E1		deletion							ENST00000325643	protein_coding			Pfam_domain:PF15371,hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF11		GKCMQ/X		-		600-612/4478							YES	SPATA31E1,frameshift_variant,p.Lys179IlefsTer25,ENST00000325643,NM_178828.4;							HIGH	534-546/4338		S31E1_HUMAN			Transcript	2		.	ENSP00000322640		CCDS6676.1			1	
DNAH8	0	LGGM	GRCh37	6	38906692	38906692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	28	28	.	.	ENST00000359357.3:c.11284C>T	p.Leu3762Phe	p.L3762F	ENST00000359357		3762	Ctc/Ttc	0	1	1	UPI00003677EB	0	NA	ENST00000359357		ENSG00000124721	2952		56	1.495		HGNC	p.L3726F		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38906692,C,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		L/F		T	low	11538/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3662&re=3791&var=L3762F					YES	DNAH8,missense_variant,p.Leu3967Phe,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Leu3762Phe,ENST00000359357,;DNAH8,missense_variant,p.Leu3726Phe,ENST00000441566,;DNAH8,missense_variant,p.Leu3979Phe,ENST00000449981,;RP1-207H1.3,intron_variant,,ENST00000416948,;							MODERATE	11284/13473	L3762F	DYH8_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000352312					1	
UBR5	0	LGGM	GRCh37	8	103297369	103297369	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	104	30	.	.	ENST00000520539.1:c.5682A>T	p.Thr1894=	p.T1894=	ENST00000520539	NM_015902.5	1894	acA/acT	0	1	1	UPI0000129BCB	0		ENST00000520539		ENSG00000104517	16806		134			HGNC	p.T1894T		UBR5		SNV							ENST00000220959	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77		T		A		6289/10297				Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN			YES	UBR5,synonymous_variant,p.=,ENST00000520539,NM_015902.5;UBR5,synonymous_variant,p.=,ENST00000220959,NM_001282873.1;UBR5,synonymous_variant,p.=,ENST00000521922,;UBR5,downstream_gene_variant,,ENST00000519528,;							LOW	5682/8400		UBR5_HUMAN			Transcript			.	ENSP00000429084		CCDS34933.1			1	
NAA16	0	LGGM	GRCh37	13	41894921	41894921	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	4	31	.	.	ENST00000379406.3:c.363A>G	p.Ser121=	p.S121=	ENST00000379406	NM_024561.4	121	tcA/tcG	0	1	1	UPI00001B559E	0		ENST00000379406		ENSG00000172766	26164		35			HGNC	p.S121S		NAA16		SNV							ENST00000379367	protein_coding			Gene3D:1.25.40.10,Pfam_domain:PF13414,PIRSF_domain:PIRSF000422,PROSITE_profiles:PS50293,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF5,Superfamily_domains:SSF48452		S		G		687/4347				A4FU51_HUMAN			YES	NAA16,synonymous_variant,p.=,ENST00000379406,NM_024561.4;NAA16,synonymous_variant,p.=,ENST00000379367,;NAA16,synonymous_variant,p.=,ENST00000403412,NM_018527.3,NM_001110798.1;NAA16,non_coding_transcript_exon_variant,,ENST00000476980,;NAA16,synonymous_variant,p.=,ENST00000464857,;							LOW	363/2595		NAA16_HUMAN			Transcript			.	ENSP00000368716		CCDS9379.1			1	
HACE1	0	LGGM	GRCh37	6	105232973	105232973	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	21	33	.	.	ENST00000262903.4:c.1296A>T	p.Ala432=	p.A432=	ENST00000262903	NM_020771.3	432	gcA/gcT	0	1	1	UPI00001602DC	0		ENST00000262903		ENSG00000085382	21033		54			HGNC	p.A432A		HACE1		SNV			1				ENST00000262903	protein_coding			hmmpanther:PTHR11254:SF278,hmmpanther:PTHR11254		A		A		1573/4576				E5RFX0_HUMAN,E3W983_HUMAN			YES	HACE1,synonymous_variant,p.=,ENST00000262903,NM_020771.3;HACE1,synonymous_variant,p.=,ENST00000369125,;HACE1,upstream_gene_variant,,ENST00000518503,;HACE1,upstream_gene_variant,,ENST00000517995,;HACE1,synonymous_variant,p.=,ENST00000517424,;HACE1,3_prime_UTR_variant,,ENST00000416605,;HACE1,non_coding_transcript_exon_variant,,ENST00000369127,;							LOW	1296/2730		HACE1_HUMAN			Transcript			.	ENSP00000262903		CCDS5050.1			1	
DCSTAMP	0	LGGM	GRCh37	8	105361303	105361303	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	179	34	.	.	ENST00000297581.2:c.523C>T	p.Leu175Phe	p.L175F	ENST00000297581	NM_030788.3	175	Ctt/Ttt	0	1	1	UPI000003BCB5	0	NA	ENST00000297581		ENSG00000164935	18549		213	1.01		HGNC	p.L175F		DCSTAMP		SNV							ENST00000517991	protein_coding	getma.org/?cm=var&var=hg19,8,105361303,C,T&fts=all		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF2		L/F		T	low	572/1953		getma.org/?cm=msa&ty=f&p=TM7S4_HUMAN&rb=70&re=241&var=L175F	tolerated(0.28)				YES	DCSTAMP,missense_variant,p.Leu175Phe,ENST00000297581,NM_030788.3;DCSTAMP,missense_variant,p.Leu175Phe,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,;							MODERATE	523/1413	L175F	DCSTP_HUMAN			Transcript		benign(0.03)	.	ENSP00000297581		CCDS6301.1			1	
PIK3CB	0	LGGM	GRCh37	3	138461458	138461458	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	19	35	.	.	ENST00000289153.2:c.563T>C	p.Leu188Ser	p.L188S	ENST00000289153	NM_006219.2	188	tTa/tCa	0	1		UPI0000046842	0	getma.org/pdb.php?prot=PK3CB_HUMAN&from=180&to=288&var=L188S	ENST00000289153		ENSG00000051382	8976		54	1.24		HGNC	p.L188S		PIK3CB		SNV							ENST00000477593	protein_coding	getma.org/?cm=var&var=hg19,3,138461458,A,G&fts=all		Superfamily_domains:SSF54236,SMART_domains:SM00144,Pfam_domain:PF00794,Gene3D:3.10.20.90,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048		L/S		G	low	563/3213		getma.org/?cm=msa&ty=f&p=PK3CB_HUMAN&rb=180&re=288&var=L188S	tolerated(0.23)	Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN				PIK3CB,missense_variant,p.Leu188Ser,ENST00000477593,;PIK3CB,missense_variant,p.Leu188Ser,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Leu56Ser,ENST00000462294,;PIK3CB,3_prime_UTR_variant,,ENST00000462898,;							MODERATE	563/3213	L188S	PK3CB_HUMAN			Transcript		benign(0.04)	.	ENSP00000289153		CCDS3104.1			1	
PRC1	0	LGGM	GRCh37	15	91522516	91522516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	28	35	.	.	ENST00000394249.3:c.979A>G	p.Thr327Ala	p.T327A	ENST00000394249	NM_003981.3	327	Aca/Gca	0	1	1	UPI00001A5ED8	0	NA	ENST00000394249		ENSG00000198901	9341		63	2.625		HGNC	p.T327A		PRC1		SNV							ENST00000394249	protein_coding	getma.org/?cm=var&var=hg19,15,91522516,T,C&fts=all		Pfam_domain:PF03999,hmmpanther:PTHR19321:SF1,hmmpanther:PTHR19321		T/A		C	medium	1057/3032		getma.org/?cm=msa&ty=f&p=PRC1_HUMAN&rb=37&re=615&var=T327A	deleterious(0)				YES	PRC1,missense_variant,p.Thr327Ala,ENST00000361188,;PRC1,missense_variant,p.Thr327Ala,ENST00000394249,NM_003981.3;PRC1,missense_variant,p.Thr327Ala,ENST00000361919,NM_199413.2;PRC1,missense_variant,p.Thr286Ala,ENST00000442656,NM_001267580.1;PRC1,missense_variant,p.Thr19Ala,ENST00000559828,;PRC1,upstream_gene_variant,,ENST00000555455,;PRC1,downstream_gene_variant,,ENST00000557905,;PRC1,downstream_gene_variant,,ENST00000559811,;PRC1-AS1,intron_variant,,ENST00000554388,;Y_RNA,upstream_gene_variant,,ENST00000363272,;PRC1,downstream_gene_variant,,ENST00000556129,;PRC1,downstream_gene_variant,,ENST00000555745,;PRC1,non_coding_transcript_exon_variant,,ENST00000560914,;PRC1,non_coding_transcript_exon_variant,,ENST00000556982,;PRC1,downstream_gene_variant,,ENST00000417173,;PRC1,downstream_gene_variant,,ENST00000557763,;PRC1,downstream_gene_variant,,ENST00000553494,;PRC1,downstream_gene_variant,,ENST00000555791,;PRC1,downstream_gene_variant,,ENST00000560605,;PRC1,upstream_gene_variant,,ENST00000559326,;							MODERATE	979/1863	T327A	PRC1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000377793		CCDS32334.1			1	
PRR16	0	LGGM	GRCh37	5	120021688	120021688	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	101	35	.	.	ENST00000379551.2:c.130C>T	p.Leu44=	p.L44=	ENST00000379551	NM_016644.1	44	Ctg/Ttg	0	1		UPI00004F9C36	0		ENST00000407149		ENSG00000184838	29654		136			HGNC	p.L67L		PRR16		SNV							ENST00000407149	protein_coding			Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0		L		T		408/1747				D6RGF0_HUMAN				PRR16,synonymous_variant,p.=,ENST00000379551,NM_016644.1;PRR16,synonymous_variant,p.=,ENST00000407149,;PRR16,5_prime_UTR_variant,,ENST00000505123,;PRR16,5_prime_UTR_variant,,ENST00000446965,;PRR16,5_prime_UTR_variant,,ENST00000509923,;							LOW	199/915		PRR16_HUMAN			Transcript			.	ENSP00000385118					1	
DSEL	0	LGGM	GRCh37	18	65181417	65181417	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	4	36	.	.	ENST00000310045.7:c.459A>C	p.Glu153Asp	p.E153D	ENST00000310045	NM_032160.2	153	gaA/gaC	0	1	1	UPI00000740A1	0	NA	ENST00000310045		ENSG00000171451	18144		40	-0.28		HGNC	p.E153D		DSEL		SNV							ENST00000310045	protein_coding	getma.org/?cm=var&var=hg19,18,65181417,T,G&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2		E/D		G	neutral	1933/9531		getma.org/?cm=msa&ty=f&p=DSEL_HUMAN&rb=1&re=200&var=E143D	tolerated(0.86)				YES	DSEL,missense_variant,p.Glu153Asp,ENST00000310045,NM_032160.2;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,downstream_gene_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;							MODERATE	459/3669	E143D	DSEL_HUMAN			Transcript		benign(0.001)	.	ENSP00000310565		CCDS11995.1			1	
PDHA2	0	LGGM	GRCh37	4	96761723	96761723	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	35	37	.	.	ENST00000295266.4:c.422G>T	p.Gly141Val	p.G141V	ENST00000295266	NM_005390.4	141	gGa/gTa	0	1	1	UPI0000130C31	0	getma.org/pdb.php?prot=ODPAT_HUMAN&from=63&to=360&var=G141V	ENST00000295266		ENSG00000163114	8807		72	2.375		HGNC	p.G141V		PDHA2		SNV							ENST00000295266	protein_coding	getma.org/?cm=var&var=hg19,4,96761723,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518		G/V		T	medium	485/1387		getma.org/?cm=msa&ty=f&p=ODPAT_HUMAN&rb=63&re=360&var=G141V	deleterious(0.04)				YES	PDHA2,missense_variant,p.Gly141Val,ENST00000295266,NM_005390.4;							MODERATE	422/1167	G141V	ODPAT_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000295266		CCDS3644.1			1	
LCP2	0	LGGM	GRCh37	5	169677808	169677808	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	166	39	.	.	ENST00000046794.5:c.1405G>A	p.Val469Ile	p.V469I	ENST00000046794	NM_005565.3	469	Gtt/Att	0	1	1	UPI000012E2AE	0	getma.org/pdb.php?prot=LCP2_HUMAN&from=422&to=505&var=V469I	ENST00000046794		ENSG00000043462	6529		205	1.825		HGNC	p.V469I		LCP2		SNV							ENST00000046794	protein_coding	getma.org/?cm=var&var=hg19,5,169677808,C,T&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550		V/I		T	low	2021/4678		getma.org/?cm=msa&ty=f&p=LCP2_HUMAN&rb=422&re=505&var=V469I	deleterious(0.01)				YES	LCP2,missense_variant,p.Val469Ile,ENST00000046794,NM_005565.3;LCP2,missense_variant,p.Val264Ile,ENST00000521416,;C5orf58,downstream_gene_variant,,ENST00000521850,;C5orf58,downstream_gene_variant,,ENST00000593851,NM_001102609.1;C5orf58,intron_variant,,ENST00000517575,;C5orf58,downstream_gene_variant,,ENST00000518395,;LCP2,non_coding_transcript_exon_variant,,ENST00000520322,;C5orf58,intron_variant,,ENST00000524171,;C5orf58,downstream_gene_variant,,ENST00000421269,;							MODERATE	1405/1602	V469I	LCP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000046794		CCDS47339.1			1	
C1QL3	0	LGGM	GRCh37	10	16556674	16556674	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	42	39	.	.	ENST00000298943.3:c.621T>C	p.Asp207=	p.D207=	ENST00000298943	NM_001010908.1	207	gaT/gaC	0	1	1	UPI000013E53F	0		ENST00000298943		ENSG00000165985	19359		81			HGNC	p.D207D		C1QL3		SNV							ENST00000298943	protein_coding			Gene3D:2.60.120.40,Pfam_domain:PF00386,PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF24,SMART_domains:SM00110,Superfamily_domains:SSF49842		D		G		1561/2493							YES	C1QL3,synonymous_variant,p.=,ENST00000298943,NM_001010908.1;PTER,downstream_gene_variant,,ENST00000378000,NM_001001484.2,NM_001261838.1,NM_030664.4;PTER,downstream_gene_variant,,ENST00000298942,NM_001261838.1;PTER,downstream_gene_variant,,ENST00000423462,NM_001261837.1;PTER,downstream_gene_variant,,ENST00000535784,NM_001261836.1;							LOW	621/768		C1QL3_HUMAN			Transcript			.	ENSP00000298943		CCDS31156.1			1	
HEATR3	0	LGGM	GRCh37	16	50138865	50138865	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	3	42	.	.	ENST00000299192.7:c.1936A>G	p.Arg646Gly	p.R646G	ENST00000299192	NM_182922.2	646	Aga/Gga	0	1	1	UPI0000071B6C	0	NA	ENST00000299192		ENSG00000155393	26087		45	1.845		HGNC	p.R646G		HEATR3		SNV							ENST00000299192	protein_coding	getma.org/?cm=var&var=hg19,16,50138865,A,G&fts=all		hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347		R/G		G	low	2127/3560		getma.org/?cm=msa&ty=f&p=HEAT3_HUMAN&rb=507&re=680&var=R646G	tolerated(0.13)				YES	HEATR3,missense_variant,p.Arg646Gly,ENST00000299192,NM_182922.2;HEATR3,missense_variant,p.Arg560Gly,ENST00000285767,;RP11-429P3.5,intron_variant,,ENST00000566770,;							MODERATE	1936/2043	R646G	HEAT3_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000299192		CCDS10739.1			1	
EZH2	0	LGGM	GRCh37	7	148511147	148511147	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	50	42	.	.	ENST00000320356.2:c.1755T>A	p.Cys585Ter	p.C585*	ENST00000320356	NM_004456.4	585	tgT/tgA	0	1		UPI000002E1D6	0	NA	ENST00000460911		ENSG00000106462	3527		92	0		HGNC	p.C580X		EZH2		SNV			1				ENST00000460911	protein_coding	getma.org/?cm=var&var=hg19,7,148511147,A,T&fts=all		Gene3D:2.170.270.10,PROSITE_profiles:PS51633,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,Superfamily_domains:SSF82199		C/*		T	NA	1829/2591		NA		Q75MP9_HUMAN,Q6R125_HUMAN				EZH2,stop_gained,p.Cys585Ter,ENST00000320356,NM_004456.4,NM_001203248.1,NM_001203247.1;EZH2,stop_gained,p.Cys580Ter,ENST00000460911,;EZH2,stop_gained,p.Cys529Ter,ENST00000476773,NM_001203249.1;EZH2,stop_gained,p.Cys529Ter,ENST00000478654,;EZH2,stop_gained,p.Cys541Ter,ENST00000350995,NM_152998.2;EZH2,stop_gained,p.Cys529Ter,ENST00000541220,;EZH2,stop_gained,p.Cys571Ter,ENST00000483967,;EZH2,downstream_gene_variant,,ENST00000536783,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,downstream_gene_variant,,ENST00000498186,;EZH2,downstream_gene_variant,,ENST00000483012,;EZH2,upstream_gene_variant,,ENST00000469631,;							HIGH	1740/2241	C580*	EZH2_HUMAN			Transcript			.	ENSP00000419711		CCDS56516.1			1	
MUC6	0	LGGM	GRCh37	11	1017944	1017944	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	175	42	.	.	ENST00000421673.2:c.4857C>T	p.Phe1619=	p.F1619=	ENST00000421673	NM_005961.2	1619	ttC/ttT	0	1	1	UPI0000251DBE	0		ENST00000421673		ENSG00000184956	7517		217			HGNC	p.F1619F		MUC6		SNV							ENST00000421673	protein_coding			hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264		F		A		4908/8006				Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN			YES	MUC6,synonymous_variant,p.=,ENST00000421673,NM_005961.2;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;							LOW	4857/7320		MUC6_HUMAN			Transcript			.	ENSP00000406861		CCDS44513.1			1	
RYR3	0	LGGM	GRCh37	15	33876661	33876661	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	89	43	.	.	ENST00000389232.4:c.1639A>G	p.Ser547Gly	p.S547G	ENST00000389232	NM_001036.3	547	Agt/Ggt	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		132	1.66		HGNC	p.S547G		RYR3		SNV							ENST00000389232	protein_coding	getma.org/?cm=var&var=hg19,15,33876661,A,G&fts=all		Superfamily_domains:0048280,Superfamily_domains:SSF48371,Pfam_domain:PF01365,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		S/G		G	low	1709/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=438&re=642&var=S547G					YES	RYR3,missense_variant,p.Ser547Gly,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Ser547Gly,ENST00000415757,NM_001243996.1;							MODERATE	1639/14613	S547G	RYR3_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000373884		CCDS45210.1			1	
MPO	0	LGGM	GRCh37	17	56350204	56350204	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	170	45	.	.	ENST00000225275.3:c.1697A>T	p.Asp566Val	p.D566V	ENST00000225275	NM_000250.1	566	gAt/gTt	0	1	1	UPI0000131634	0	getma.org/pdb.php?prot=PERM_HUMAN&from=173&to=718&var=D566V	ENST00000225275		ENSG00000005381	7218		215	2.32		HGNC	p.D52V		MPO		SNV			1				ENST00000577220	protein_coding	getma.org/?cm=var&var=hg19,17,56350204,T,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		D/V		A	medium	1874/3215		getma.org/?cm=msa&ty=f&p=PERM_HUMAN&rb=173&re=718&var=D566V	deleterious(0.02)				YES	MPO,missense_variant,p.Asp598Val,ENST00000340482,;MPO,missense_variant,p.Asp566Val,ENST00000225275,NM_000250.1;MPO,missense_variant,p.Asp52Val,ENST00000577220,;LPO,downstream_gene_variant,,ENST00000262290,NM_006151.2;LPO,downstream_gene_variant,,ENST00000421678,NM_001160102.1;LPO,downstream_gene_variant,,ENST00000582328,;LPO,downstream_gene_variant,,ENST00000543544,;MPO,downstream_gene_variant,,ENST00000578493,;LPO,downstream_gene_variant,,ENST00000580890,;LPO,downstream_gene_variant,,ENST00000389576,;							MODERATE	1697/2238	D566V	PERM_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000225275		CCDS11604.1			1	
PWP1	0	LGGM	GRCh37	12	108102935	108102938	+	frameshift_variant	Frame_Shift_Del	DEL	GCTG	GCTG	-	novel	by Submitter	H060795	H060795N.bam	GCTG	GCTG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	69	46	.	.	ENST00000412830.3:c.1216_1219del	p.Ala406ThrfsTer4	p.A406Tfs*4	ENST00000412830	NM_007062.1	406	GCTGac/ac	0	1	1	UPI0000132B9C	0		ENST00000412830		ENSG00000136045	17015		115			HGNC	p.344_345del		PWP1		deletion							ENST00000541166	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR14091,SMART_domains:SM00320,Superfamily_domains:SSF50978		AD/X		-		1384-1387/2621				Q86X79_HUMAN,Q05BL3_HUMAN,F8VZ56_HUMAN,B4DJV5_HUMAN			YES	PWP1,frameshift_variant,p.Ala406ThrfsTer4,ENST00000412830,NM_007062.1;PWP1,frameshift_variant,p.Ala344ThrfsTer4,ENST00000541166,;							HIGH	1216-1219/1506		PWP1_HUMAN			Transcript			.	ENSP00000387365		CCDS9114.1			1	
PWP1	0	LGGM	GRCh37	12	108102940	108102946	+	frameshift_variant	Frame_Shift_Del	DEL	CAAATAC	CAAATAC	-	novel	by Submitter	H060795	H060795N.bam	CAAATAC	CAAATAC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	68	46	.	.	ENST00000412830.3:c.1221_1227del	p.Asp407GlufsTer2	p.D407Efs*2	ENST00000412830	NM_007062.1	407	gaCAAATAC/ga	0	1	1	UPI0000132B9C	0		ENST00000412830		ENSG00000136045	17015		114			HGNC	p.345_347del		PWP1		deletion							ENST00000541166	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR14091,SMART_domains:SM00320,Superfamily_domains:SSF50978		DKY/X		-		1389-1395/2621				Q86X79_HUMAN,Q05BL3_HUMAN,F8VZ56_HUMAN,B4DJV5_HUMAN			YES	PWP1,frameshift_variant,p.Asp407GlufsTer2,ENST00000412830,NM_007062.1;PWP1,frameshift_variant,p.Asp345GlufsTer2,ENST00000541166,;							HIGH	1221-1227/1506		PWP1_HUMAN			Transcript			.	ENSP00000387365		CCDS9114.1			1	
CACNA1I	0	LGGM	GRCh37	22	40054193	40054193	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	46	48	.	.	ENST00000402142.3:c.2029G>A	p.Val677Met	p.V677M	ENST00000402142	NM_021096.3	677	Gtg/Atg	0	1	1	UPI000012727D	0	getma.org/pdb.php?prot=CAC1I_HUMAN&from=674&to=861&var=V677M	ENST00000402142		ENSG00000100346	1396		94	1.33		HGNC	p.V642M		CACNA1I		SNV							ENST00000407673	protein_coding	getma.org/?cm=var&var=hg19,22,40054193,G,A&fts=all		hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		V/M		A	low	2029/10004		getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=674&re=861&var=V677M	deleterious(0.04)				YES	CACNA1I,missense_variant,p.Val683Met,ENST00000336649,;CACNA1I,missense_variant,p.Val677Met,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Val642Met,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Val642Met,ENST00000400164,;CACNA1I,missense_variant,p.Val677Met,ENST00000401624,;CACNA1I,missense_variant,p.Val642Met,ENST00000407673,;							MODERATE	2029/6672	V677M	CAC1I_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000385019		CCDS46710.1			1	
GCNT6	0	LGGM	GRCh37	6	10634457	10634457	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	35	48	.	.	ENST00000417671.1:c.465C>G	p.Ser155=	p.S155=	ENST00000417671		155	tcC/tcG	0	1	1	UPI0001AE722A	0		ENST00000417671		ENSG00000205318	21623		83			HGNC	p.S155S		GCNT6		SNV							ENST00000417671	protein_coding			Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF88		S		G		465/1176				J3KQG7_HUMAN			YES	GCNT6,synonymous_variant,p.=,ENST00000417671,;GCNT6,synonymous_variant,p.=,ENST00000379591,;GCNT2,downstream_gene_variant,,ENST00000379597,;GCNT2,downstream_gene_variant,,ENST00000316170,NM_001491.2;GCNT2,downstream_gene_variant,,ENST00000265012,NM_145655.3;GCNT2,downstream_gene_variant,,ENST00000397423,;							LOW	465/1176					Transcript			.	ENSP00000398277					1	
HAO1	0	LGGM	GRCh37	20	7875860	7875860	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060795	H060795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	73	49	.	.	ENST00000378789.3:c.733A>C	p.Arg245=	p.R245=	ENST00000378789	NM_017545.2	245	Agg/Cgg	0	1	1	UPI000012C08B	0		ENST00000378789		ENSG00000101323	4809		122			HGNC	p.R245R		HAO1		SNV							ENST00000378789	protein_coding			PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF63,Gene3D:3.20.20.70,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,Superfamily_domains:SSF51395		R		G		785/1777				A8K058_HUMAN			YES	HAO1,synonymous_variant,p.=,ENST00000378789,NM_017545.2;							LOW	733/1113		HAOX1_HUMAN			Transcript			.	ENSP00000368066		CCDS13100.1			1	
OR2AK2	0	LGGM	GRCh37	1	248129100	248129100	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	210	54	.	.	ENST00000366480.3:c.467G>T	p.Cys156Phe	p.C156F	ENST00000366480	NM_001004491.1	156	tGc/tTc	0	1	1	UPI00003B2873	0	NA	ENST00000366480		ENSG00000187080	19569		264	3.405		HGNC	p.C156F		OR2AK2		SNV							ENST00000366480	protein_coding	getma.org/?cm=var&var=hg19,1,248129100,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF1,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		C/F		T	medium	566/1107		getma.org/?cm=msa&ty=f&p=O2AK2_HUMAN&rb=154&re=298&var=C156F	deleterious(0)				YES	OR2AK2,missense_variant,p.Cys156Phe,ENST00000366480,NM_001004491.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	467/1008	C156F	O2AK2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000355436		CCDS31102.1			1	
CCDC88A	0	LGGM	GRCh37	2	55522281	55522281	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	107	60	.	.	ENST00000336838.6:c.5548+452C>G		*1850*	ENST00000336838				0	1		UPI000150AEEC	0		ENST00000436346		ENSG00000115355	25523		167			HGNC	p.C1176W		CCDC88A		SNV							ENST00000426576	protein_coding							C		-/9811				C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,missense_variant,p.Cys1176Trp,ENST00000426576,;CCDC88A,intron_variant,,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,intron_variant,,ENST00000263630,NM_018084.4;CCDC88A,intron_variant,,ENST00000336838,;CCDC88A,intron_variant,,ENST00000413716,;CCDC88A,intron_variant,,ENST00000422883,;CCDC88A,intron_variant,,ENST00000444458,;CCDC88A,intron_variant,,ENST00000412148,;CCDC88A,downstream_gene_variant,,ENST00000456975,;							MODIFIER	-/5616		GRDN_HUMAN			Transcript			.	ENSP00000410608					1	
GTF2I	0	LGGM	GRCh37	7	74103510	74103510	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	89	61	.	.	ENST00000324896.4:c.48C>A	p.Ser16=	p.S16=	ENST00000324896	NM_032999.3	16	tcC/tcA	0	1	1	UPI0000001233	0		ENST00000324896		ENSG00000077809	4659		150			HGNC	p.S16S		GTF2I		SNV							ENST00000353920	protein_coding			PIRSF_domain:PIRSF016441,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF94		S		A		437/4548				C9J6M0_HUMAN,B4DRA9_HUMAN,B4DM07_HUMAN,B4DH52_HUMAN			YES	GTF2I,synonymous_variant,p.=,ENST00000324896,NM_032999.3;GTF2I,synonymous_variant,p.=,ENST00000353920,NM_033000.3;GTF2I,synonymous_variant,p.=,ENST00000346152,NM_033001.3,NM_001163636.2;GTF2I,synonymous_variant,p.=,ENST00000416070,NM_001518.4;GTF2I,synonymous_variant,p.=,ENST00000443166,NM_001280800.1;GTF2I,synonymous_variant,p.=,ENST00000432143,;AC083884.8,non_coding_transcript_exon_variant,,ENST00000450426,;GTF2I,intron_variant,,ENST00000485000,;							LOW	48/2997		GTF2I_HUMAN			Transcript			.	ENSP00000322542		CCDS5573.1			1	
RAB37	0	LGGM	GRCh37	17	72739303	72739303	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	117	64	.	.	ENST00000392614.4:c.297C>G	p.Ser99Arg	p.S99R	ENST00000392614	NM_001163989.1	99	agC/agG	0	1		UPI00000015D4	0	getma.org/pdb.php?prot=RAB37_HUMAN&from=31&to=193&var=S94R	ENST00000392613		ENSG00000172794	30268		181	2.585		HGNC	p.S57R		RAB37		SNV							ENST00000392612	protein_coding	getma.org/?cm=var&var=hg19,17,72739303,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF381,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00177,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		S/R		G	medium	338/2617		getma.org/?cm=msa&ty=f&p=RAB37_HUMAN&rb=31&re=193&var=S94R	deleterious(0.03)	B3KPZ5_HUMAN,A8MTC6_HUMAN				RAB37,missense_variant,p.Ser87Arg,ENST00000340415,NM_175738.4;RAB37,missense_variant,p.Ser94Arg,ENST00000392610,;RAB37,missense_variant,p.Ser99Arg,ENST00000392614,NM_001163989.1;RAB37,missense_variant,p.Ser62Arg,ENST00000392615,;RAB37,missense_variant,p.Ser94Arg,ENST00000392613,NM_001006638.2;RAB37,missense_variant,p.Ser57Arg,ENST00000392612,NM_001163990.1;RAB37,missense_variant,p.Ser87Arg,ENST00000402449,;RAB37,missense_variant,p.Ser67Arg,ENST00000528438,;MIR3615,downstream_gene_variant,,ENST00000585285,;RAB37,missense_variant,p.Ser94Arg,ENST00000481224,;RAB37,non_coding_transcript_exon_variant,,ENST00000392617,;RAB37,non_coding_transcript_exon_variant,,ENST00000577548,;RAB37,non_coding_transcript_exon_variant,,ENST00000533530,;RAB37,non_coding_transcript_exon_variant,,ENST00000527040,;RAB37,upstream_gene_variant,,ENST00000488977,;RAB37,upstream_gene_variant,,ENST00000531420,;							MODERATE	282/672	S94R	RAB37_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000376389		CCDS32722.1			1	
VMP1	0	LGGM	GRCh37	17	57889147	57889147	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H060795	H060795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	63	69	.	.	ENST00000262291.4:c.912G>A	p.Gln304=	p.Q304=	ENST00000262291	NM_030938.3	304	caG/caA	0	1	1	UPI0000037791	0		ENST00000262291		ENSG00000062716	29559		132			HGNC	p.Q112Q		VMP1		SNV							ENST00000539763	protein_coding			hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF1		Q		A		1222/2712				K7ENU2_HUMAN,K7EMI0_HUMAN,K7EM96_HUMAN,K7EK01_HUMAN,D3DU01_HUMAN,B4DVV9_HUMAN			YES	VMP1,splice_region_variant,p.=,ENST00000262291,NM_030938.3;VMP1,splice_region_variant,p.=,ENST00000539763,;VMP1,splice_region_variant,p.=,ENST00000537567,;VMP1,splice_region_variant,p.=,ENST00000545362,;VMP1,splice_region_variant,p.=,ENST00000536180,;VMP1,splice_region_variant,p.=,ENST00000591877,;VMP1,splice_region_variant,,ENST00000592619,;							LOW	912/1221		VMP1_HUMAN			Transcript			.	ENSP00000262291		CCDS11619.1			1	
SMG1	0	LGGM	GRCh37	16	18830939	18830939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	80	70	.	.	ENST00000446231.2:c.9779G>T	p.Arg3260Leu	p.R3260L	ENST00000446231		3260	cGa/cTa	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		150	0.975		HGNC	p.R3260L		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18830939,C,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		R/L		A	low	10192/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=3228&re=3427&var=R3260L	deleterious(0)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Arg3260Leu,ENST00000446231,;SMG1,missense_variant,p.Arg3261Leu,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Arg3150Leu,ENST00000565324,;SMG1,upstream_gene_variant,,ENST00000561940,;							MODERATE	9779/10986	R3260L	SMG1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000402515		CCDS45430.1			1	
C4BPA	0	LGGM	GRCh37	1	207297566	207297566	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	160	74	.	.	ENST00000367070.3:c.561C>T	p.Ser187=	p.S187=	ENST00000367070	NM_000715.3	187	agC/agT	0	1	1	UPI0000126C28	0		ENST00000367070		ENSG00000123838	1325		234			HGNC	p.S187S	rs368827962	C4BPA	0.000121	SNV	T:0.0005			0.000482			ENST00000367070	protein_coding			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF341,SMART_domains:SM00032,Superfamily_domains:SSF57535		S	T:0	T		755/2243	7.50E-05			Q5VVQ8_HUMAN,A6PVY5_HUMAN			YES	C4BPA,synonymous_variant,p.=,ENST00000367070,NM_000715.3;C4BPA,downstream_gene_variant,,ENST00000421786,;							LOW	561/1794		C4BPA_HUMAN			Transcript			common_variant	ENSP00000356037	9.88E-05	CCDS1477.1			1	
ZNF704	0	LGGM	GRCh37	8	81571912	81571912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	183	75	.	.	ENST00000327835.3:c.940G>T	p.Val314Leu	p.V314L	ENST00000327835	NM_001033723.2	314	Gtg/Ttg	0	1	1	UPI000035E754	0	NA	ENST00000327835		ENSG00000164684	32291		258	2.095		HGNC	p.V314L		ZNF704		SNV							ENST00000327835	protein_coding	getma.org/?cm=var&var=hg19,8,81571912,C,A&fts=all		hmmpanther:PTHR13006,hmmpanther:PTHR13006:SF7		V/L		A	medium	1172/14386		getma.org/?cm=msa&ty=f&p=ZN704_HUMAN&rb=229&re=410&var=V314L	tolerated(0.12)	E5RGL7_HUMAN			YES	ZNF704,missense_variant,p.Val314Leu,ENST00000327835,NM_001033723.2;ZNF704,upstream_gene_variant,,ENST00000517986,;							MODERATE	940/1239	V314L	ZN704_HUMAN			Transcript		possibly_damaging(0.448)	.	ENSP00000331462		CCDS34913.1			1	
CACNA1E	0	LGGM	GRCh37	1	181724532	181724532	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	369	85	.	.	ENST00000367573.2:c.3988A>C	p.Ile1330Leu	p.I1330L	ENST00000367573	NM_001205293.1	1330	Ata/Cta	0	1	1	UPI00004588C2	0	NA	ENST00000367573		ENSG00000198216	1392		454	-0.075		HGNC	p.I937L		CACNA1E		SNV							ENST00000367567	protein_coding	getma.org/?cm=var&var=hg19,1,181724532,A,C&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57		I/L		C	neutral	3988/7067		getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=1188&re=1422&var=I1330L	deleterious(0.03)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.Ile1311Leu,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Ile1281Leu,ENST00000357570,;CACNA1E,missense_variant,p.Ile1330Leu,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Ile937Leu,ENST00000367567,;CACNA1E,missense_variant,p.Ile1262Leu,ENST00000358338,;CACNA1E,missense_variant,p.Ile1330Leu,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Ile1311Leu,ENST00000360108,;							MODERATE	3988/6942	I1330L	CAC1E_HUMAN			Transcript		benign(0.018)	.	ENSP00000356545		CCDS55664.1			1	
LPHN3	0	LGGM	GRCh37	4	62598963	62598963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060795	H060795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	77	97	.	.	ENST00000514591.1:c.886C>T	p.Arg296Trp	p.R296W	ENST00000514591		296	Cgg/Tgg	0	1	1	UPI00016278EF	0	NA	ENST00000514591		ENSG00000150471	20974		174	2.48		HGNC	p.R364W	rs747620859,COSM4125428,COSM4125427,COSM4125426	LPHN3		SNV						0,1,1,1	ENST00000509896	protein_coding	getma.org/?cm=var&var=hg19,4,62598963,C,T&fts=all		PROSITE_profiles:PS51132,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02191,SMART_domains:SM00284		R/W		T	medium	1215/6297	1.51E-05	getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=138&re=393&var=R296W	deleterious(0)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Arg296Trp,ENST00000512091,;LPHN3,missense_variant,p.Arg296Trp,ENST00000514591,;LPHN3,missense_variant,p.Arg296Trp,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Arg364Trp,ENST00000509896,;LPHN3,missense_variant,p.Arg364Trp,ENST00000511324,;LPHN3,missense_variant,p.Arg364Trp,ENST00000508693,;LPHN3,missense_variant,p.Arg364Trp,ENST00000507164,;LPHN3,missense_variant,p.Arg364Trp,ENST00000506720,;LPHN3,missense_variant,p.Arg364Trp,ENST00000506746,;LPHN3,missense_variant,p.Arg364Trp,ENST00000507625,;LPHN3,missense_variant,p.Arg296Trp,ENST00000506700,;LPHN3,missense_variant,p.Arg296Trp,ENST00000504896,;LPHN3,missense_variant,p.Arg296Trp,ENST00000514157,;LPHN3,missense_variant,p.Arg296Trp,ENST00000508946,;LPHN3,missense_variant,p.Arg296Trp,ENST00000514996,;					0,1,1,1		MODERATE	886/4410	R296W				Transcript		probably_damaging(1)	.	ENSP00000422533	8.28E-06	CCDS54768.1			1	
MUC17	0	LGGM	GRCh37	7	100678186	100678186	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H060795	H060795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060795N.bam, H060795T.bam	Illumina HiSeq	110	244	.	.	ENST00000306151.4:c.3489A>T	p.Ala1163=	p.A1163=	ENST00000306151	NM_001040105.1	1163	gcA/gcT	0	1	1	UPI0000D5BB56	0		ENST00000306151		ENSG00000169876	16800		354			HGNC	p.A1163A		MUC17		SNV							ENST00000379439	protein_coding					A		T		3553/14241				A1A4F7_HUMAN			YES	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;							LOW	3489/13482		MUC17_HUMAN			Transcript			.	ENSP00000302716		CCDS34711.1			1	
SEC14L5	0	LGGM	GRCh37	16	5053548	5053548	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	5	2	.	.	ENST00000251170.7:c.1276C>A	p.Arg426=	p.R426=	ENST00000251170	NM_014692.1	426	Cga/Aga	0	1	1	UPI00001C1FA3	0		ENST00000251170		ENSG00000103184	29032		7			HGNC	p.R426R		SEC14L5		SNV							ENST00000251170	protein_coding			PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF39,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087		R		A		1456/6459				K7ERV2_HUMAN			YES	SEC14L5,synonymous_variant,p.=,ENST00000251170,NM_014692.1;							LOW	1276/2091		S14L5_HUMAN			Transcript			.	ENSP00000251170		CCDS45403.1			1	
HTT	0	LGGM	GRCh37	4	3240238	3240238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	10	2	.	.	ENST00000355072.5:c.8956G>T	p.Asp2986Tyr	p.D2986Y	ENST00000355072	NM_002111.6	2986	Gac/Tac	0	1	1	UPI000013D567	0	NA	ENST00000355072		ENSG00000197386	4851		12	2.61		HGNC	p.D2986Y		HTT		SNV			1				ENST00000355072	protein_coding	getma.org/?cm=var&var=hg19,4,3240238,G,T&fts=all		Prints_domain:PR00375,hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10,Superfamily_domains:SSF48371		D/Y		T	medium	9101/13464		getma.org/?cm=msa&ty=f&p=HD_HUMAN&rb=2834&re=3033&var=D2986Y		D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,missense_variant,p.Asp2986Tyr,ENST00000355072,NM_002111.6;HTT,downstream_gene_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000508321,;							MODERATE	8956/9429	D2986Y	HD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347184		CCDS43206.1			1	
NDST3	0	LGGM	GRCh37	4	119161849	119161849	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	11	2	.	.	ENST00000296499.5:c.2289G>A	p.Gln763=	p.Q763=	ENST00000296499	NM_004784.2	763	caG/caA	0	1	1	UPI0000071C44	0		ENST00000296499		ENSG00000164100	7682		13			HGNC	p.Q763Q		NDST3		SNV							ENST00000296499	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Superfamily_domains:SSF52540		Q		A		2692/5961							YES	NDST3,splice_region_variant,p.=,ENST00000296499,NM_004784.2;NDST3,downstream_gene_variant,,ENST00000433996,;							LOW	2289/2622		NDST3_HUMAN			Transcript			.	ENSP00000296499		CCDS3708.1			1	
RUNDC3A	0	LGGM	GRCh37	17	42389989	42389989	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	13	3	.	.	ENST00000426726.3:c.149C>A	p.Pro50His	p.P50H	ENST00000426726	NM_001144825.1	50	cCc/cAc	0	1	1	UPI0000EE7B82	0	NA	ENST00000426726		ENSG00000108309	16984		16	1.61		HGNC	p.P50H		RUNDC3A		SNV							ENST00000590941	protein_coding	getma.org/?cm=var&var=hg19,17,42389989,C,A&fts=all		Superfamily_domains:0052343,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF38		P/H		A	low	423/2048		getma.org/?cm=msa&ty=f&p=RUN3A_HUMAN&rb=1&re=59&var=P50H	deleterious(0)				YES	RUNDC3A,missense_variant,p.Pro50His,ENST00000426726,NM_001144825.1;RUNDC3A,missense_variant,p.Pro50His,ENST00000225441,NM_001144826.1,NM_006695.4;RUNDC3A,missense_variant,p.Pro50His,ENST00000590941,;AC003102.3,intron_variant,,ENST00000588097,;AC003102.3,upstream_gene_variant,,ENST00000586388,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000587483,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;RUNDC3A,upstream_gene_variant,,ENST00000588564,;RUNDC3A,upstream_gene_variant,,ENST00000593079,;							MODERATE	149/1341	P50H	RUN3A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000410862		CCDS45698.1			1	
UBR4	0	LGGM	GRCh37	1	19423693	19423693	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	24	3	.	.	ENST00000375254.3:c.13384A>G	p.Thr4462Ala	p.T4462A	ENST00000375254	NM_020765.2	4462	Act/Gct	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		27	0.49		HGNC	p.T4462A		UBR4		SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19423693,T,C&fts=all		Pfam_domain:PF13764,hmmpanther:PTHR21725,Low_complexity_(Seg):seg		T/A		C	neutral	13412/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=4367&re=5163&var=T4462A		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Thr4462Ala,ENST00000375267,;UBR4,missense_variant,p.Thr4462Ala,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Thr4455Ala,ENST00000375217,;UBR4,missense_variant,p.Thr4438Ala,ENST00000375226,;UBR4,missense_variant,p.Thr169Ala,ENST00000375224,;UBR4,missense_variant,p.Thr126Ala,ENST00000543981,;UBR4,missense_variant,p.Thr25Ala,ENST00000429347,;UBR4,non_coding_transcript_exon_variant,,ENST00000467272,;UBR4,upstream_gene_variant,,ENST00000483922,;UBR4,upstream_gene_variant,,ENST00000492606,;							MODERATE	13384/15552	T4462A	UBR4_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000364403		CCDS189.1			1	
PSD2	0	LGGM	GRCh37	5	139192976	139192976	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	18	3	.	.	ENST00000274710.3:c.454G>A	p.Gly152Ser	p.G152S	ENST00000274710	NM_032289.2	152	Ggc/Agc	0	1	1	UPI0000073C6B	0	NA	ENST00000274710		ENSG00000146005	19092		21	1.75		HGNC	p.G152S		PSD2		SNV							ENST00000274710	protein_coding	getma.org/?cm=var&var=hg19,5,139192976,G,A&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109		G/S		A	low	659/4513		getma.org/?cm=msa&ty=f&p=PSD2_HUMAN&rb=120&re=270&var=G152S	deleterious(0.01)				YES	PSD2,missense_variant,p.Gly152Ser,ENST00000274710,NM_032289.2;							MODERATE	454/2316	G152S	PSD2_HUMAN			Transcript		benign(0.029)	.	ENSP00000274710		CCDS4216.1			1	
RBP3	0	LGGM	GRCh37	10	48389764	48389764	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	11	3	.	.	ENST00000224600.4:c.1114C>T	p.Leu372Phe	p.L372F	ENST00000224600	NM_002900.2	372	Ctc/Ttc	0	1	1	UPI000012D87A	0	getma.org/pdb.php?prot=RET3_HUMAN&from=308&to=437&var=L372F	ENST00000224600		ENSG00000107618	9921		14	3.685		HGNC	p.L372F		RBP3		SNV			1				ENST00000224600	protein_coding	getma.org/?cm=var&var=hg19,10,48389764,G,A&fts=all		hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.30.750.44,Superfamily_domains:SSF52096		L/F		A	high	1228/4276		getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=308&re=437&var=L372F	deleterious(0)				YES	RBP3,missense_variant,p.Leu372Phe,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;							MODERATE	1114/3744	L372F	RET3_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000224600		CCDS7218.1			1	
POU4F1	0	LGGM	GRCh37	13	79177413	79177413	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	12	3	.	.	ENST00000377208.5:c.49C>A	p.Leu17Ile	p.L17I	ENST00000377208	NM_006237.3	17	Ctc/Atc	0	1	1	UPI000013DCAA	0	NA	ENST00000377208		ENSG00000152192	9218		15	1.1		HGNC	p.L17I		POU4F1		SNV							ENST00000377208	protein_coding	getma.org/?cm=var&var=hg19,13,79177413,G,T&fts=all		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42		L/I		T	low	261/4525		getma.org/?cm=msa&ty=f&p=PO4F1_HUMAN&rb=1&re=253&var=L17I	tolerated_low_confidence(0.06)				YES	POU4F1,missense_variant,p.Leu17Ile,ENST00000377208,NM_006237.3;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000607860,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000430549,;RP11-52L5.6,downstream_gene_variant,,ENST00000607269,;							MODERATE	49/1260	L17I	PO4F1_HUMAN			Transcript		possibly_damaging(0.581)	.	ENSP00000366413		CCDS31996.1			1	
IRG1	0	LGGM	GRCh37	13	77531627	77531627	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	14	3	.	.	ENST00000377462.1:c.953A>T	p.Tyr318Phe	p.Y318F	ENST00000377462	NM_001258406.1	318	tAt/tTt	0	1	1	UPI000015C60D	0	getma.org/pdb.php?prot=IRG1_HUMAN&from=4&to=454&var=Y318F	ENST00000377462		ENSG00000102794	33904		17	2.225		HGNC	p.Y318F		IRG1		SNV							ENST00000449753	protein_coding	getma.org/?cm=var&var=hg19,13,77531627,A,T&fts=all		hmmpanther:PTHR16943,hmmpanther:PTHR16943:SF11,Pfam_domain:PF03972,Gene3D:1szqA02,Superfamily_domains:0043815		Y/F		T	medium	1015/2165		getma.org/?cm=msa&ty=f&p=IRG1_HUMAN&rb=4&re=454&var=Y318F	deleterious(0)				YES	IRG1,missense_variant,p.Tyr318Phe,ENST00000377462,NM_001258406.1;IRG1,missense_variant,p.Tyr318Phe,ENST00000449753,;							MODERATE	953/1446	Y318F	IRG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000366682		CCDS58299.1			1	
DLGAP1	0	LGGM	GRCh37	18	3508576	3508576	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	17	3	.	.	ENST00000315677.3:c.2563G>A	p.Glu855Lys	p.E855K	ENST00000315677	NM_004746.3	855	Gaa/Aaa	0	1	1	UPI0000129490	0	NA	ENST00000315677		ENSG00000170579	2905		20	0.75		HGNC	p.E563K		DLGAP1		SNV							ENST00000539435	protein_coding	getma.org/?cm=var&var=hg19,18,3508576,C,T&fts=all		hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353,Pfam_domain:PF03359		E/K		T	neutral	3159/6683		getma.org/?cm=msa&ty=f&p=DLGP1_HUMAN&rb=637&re=977&var=E855K	deleterious(0.02)				YES	DLGAP1,missense_variant,p.Glu855Lys,ENST00000315677,NM_004746.3;DLGAP1,missense_variant,p.Glu571Lys,ENST00000400150,NM_001242763.1;DLGAP1,missense_variant,p.Glu553Lys,ENST00000400147,NM_001003809.2;DLGAP1,missense_variant,p.Glu561Lys,ENST00000400155,NM_001242764.1;DLGAP1,missense_variant,p.Glu545Lys,ENST00000400149,;DLGAP1,missense_variant,p.Glu855Lys,ENST00000581527,NM_001242761.1;DLGAP1,missense_variant,p.Glu855Lys,ENST00000584874,;DLGAP1,missense_variant,p.Glu855Lys,ENST00000515196,;DLGAP1,missense_variant,p.Glu563Lys,ENST00000539435,NM_001242766.1;DLGAP1,missense_variant,p.Glu539Lys,ENST00000534970,NM_001242762.1;DLGAP1,missense_variant,p.Glu561Lys,ENST00000581699,;DLGAP1,missense_variant,p.Glu553Lys,ENST00000400145,NM_001242765.1;							MODERATE	2563/2934	E855K	DLGP1_HUMAN			Transcript		benign(0.151)	.	ENSP00000316377		CCDS11836.1			1	
UNC5D	0	LGGM	GRCh37	8	35647917	35647917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	40	3	.	.	ENST00000404895.2:c.2698G>A	p.Val900Ile	p.V900I	ENST00000404895	NM_080872.2	900	Gtc/Atc	0	1	1	UPI00001D6915	0	getma.org/pdb.php?prot=UNC5D_HUMAN&from=859&to=935&var=V900I	ENST00000404895		ENSG00000156687	18634		43	1.7		HGNC	p.V900I		UNC5D		SNV							ENST00000404895	protein_coding	getma.org/?cm=var&var=hg19,8,35647917,G,A&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF00531,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,SMART_domains:SM00005,Superfamily_domains:SSF47986		V/I		A	low	3026/3252		getma.org/?cm=msa&ty=f&p=UNC5D_HUMAN&rb=859&re=935&var=V900I	deleterious(0.05)				YES	UNC5D,missense_variant,p.Val831Ile,ENST00000287272,;UNC5D,missense_variant,p.Val895Ile,ENST00000453357,;UNC5D,missense_variant,p.Val905Ile,ENST00000416672,;UNC5D,missense_variant,p.Val900Ile,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Val833Ile,ENST00000420357,;UNC5D,missense_variant,p.Val476Ile,ENST00000449677,;AC012215.1,upstream_gene_variant,,ENST00000437887,;							MODERATE	2698/2862	V900I	UNC5D_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000385143		CCDS6093.2			1	
XRN1	0	LGGM	GRCh37	3	142151648	142151648	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	24	3	.	.	ENST00000264951.4:c.163A>T	p.Ile55Phe	p.I55F	ENST00000264951	NM_019001.3	55	Att/Ttt	0	1	1	UPI0000074113	0	getma.org/pdb.php?prot=XRN1_HUMAN&from=1&to=228&var=I55F	ENST00000264951		ENSG00000114127	30654		27	1.99		HGNC	p.I55F		XRN1		SNV							ENST00000463916	protein_coding	getma.org/?cm=var&var=hg19,3,142151648,T,A&fts=all		hmmpanther:PTHR12341:SF9,hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF006743		I/F		A	medium	281/10143		getma.org/?cm=msa&ty=f&p=XRN1_HUMAN&rb=1&re=228&var=I55F	deleterious(0)	C9JCZ8_HUMAN			YES	XRN1,missense_variant,p.Ile55Phe,ENST00000264951,NM_019001.3;XRN1,missense_variant,p.Ile55Phe,ENST00000392981,NM_001042604.1,NM_001282857.1;XRN1,missense_variant,p.Ile55Phe,ENST00000463916,NM_001282859.1;XRN1,5_prime_UTR_variant,,ENST00000544157,;XRN1,upstream_gene_variant,,ENST00000477237,;XRN1,downstream_gene_variant,,ENST00000465074,;XRN1,missense_variant,p.Ile55Phe,ENST00000486211,;XRN1,non_coding_transcript_exon_variant,,ENST00000470537,;							MODERATE	163/5121	I55F	XRN1_HUMAN			Transcript		benign(0.442)	.	ENSP00000264951		CCDS3123.1			1	
CDA	0	LGGM	GRCh37	1	20915687	20915687	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	17	3	.	.	ENST00000375071.3:c.65C>T	p.Ser22Phe	p.S22F	ENST00000375071	NM_001785.2	22	tCc/tTc	0	1	1	UPI0000127406	0	getma.org/pdb.php?prot=CDD_HUMAN&from=12&to=118&var=S22F	ENST00000375071		ENSG00000158825	1712		20	2.285		HGNC	p.S22F		CDA		SNV							ENST00000375071	protein_coding	getma.org/?cm=var&var=hg19,1,20915687,C,T&fts=all		Gene3D:3.40.140.10,Pfam_domain:PF00383,hmmpanther:PTHR11644,Superfamily_domains:SSF53927,TIGRFAM_domain:TIGR01354		S/F		T	medium	247/963		getma.org/?cm=msa&ty=f&p=CDD_HUMAN&rb=12&re=118&var=S22F	deleterious(0.01)	Q71UE9_HUMAN			YES	CDA,missense_variant,p.Ser22Phe,ENST00000375071,NM_001785.2;CDA,non_coding_transcript_exon_variant,,ENST00000461985,;							MODERATE	65/441	S22F	CDD_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000364212		CCDS210.1			1	
NPAP1	0	LGGM	GRCh37	15	24921230	24921230	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	6	3	.	.	ENST00000329468.2:c.216T>C	p.Cys72=	p.C72=	ENST00000329468	NM_018958.2	72	tgT/tgC	0	1	1	UPI00001AFA1B	0		ENST00000329468		ENSG00000185823	1190		9			HGNC	p.C72C		NPAP1		SNV							ENST00000329468	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		C		C		690/8053							YES	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;							LOW	216/3471		NPAP1_HUMAN			Transcript			.	ENSP00000333735		CCDS10015.1			1	
SLC26A5	0	LGGM	GRCh37	7	103018114	103018114	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	40	3	.	.	ENST00000306312.3:c.1918C>T	p.His640Tyr	p.H640Y	ENST00000306312	NM_198999.2	640	Cac/Tac	0	1	1	UPI0000132195	0	getma.org/pdb.php?prot=S26A5_HUMAN&from=526&to=709&var=H640Y	ENST00000306312		ENSG00000170615	9359		43	2.23		HGNC	p.H640Y		SLC26A5		SNV			1				ENST00000306312	protein_coding	getma.org/?cm=var&var=hg19,7,103018114,G,A&fts=all		Gene3D:3.30.750.24,Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,Superfamily_domains:SSF52091,TIGRFAM_domain:TIGR00815		H/Y		A	medium	2180/2689		getma.org/?cm=msa&ty=f&p=S26A5_HUMAN&rb=526&re=709&var=H640Y	deleterious(0.01)	Q496J1_HUMAN			YES	SLC26A5,missense_variant,p.His640Tyr,ENST00000306312,NM_198999.2;SLC26A5,missense_variant,p.His608Tyr,ENST00000432958,NM_001167962.1;SLC26A5,missense_variant,p.His608Tyr,ENST00000393730,;SLC26A5,missense_variant,p.His640Tyr,ENST00000339444,NM_206883.2;SLC26A5,missense_variant,p.His603Tyr,ENST00000393729,;SLC26A5,missense_variant,p.His642Tyr,ENST00000393727,;SLC26A5,missense_variant,p.His73Tyr,ENST00000354356,;SLC26A5,missense_variant,p.His610Tyr,ENST00000393723,;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,;							MODERATE	1918/2235	H640Y	S26A5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000304783		CCDS5733.1			1	
SLC35D2	0	LGGM	GRCh37	9	99084361	99084361	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	37	3	.	.	ENST00000253270.7:c.833A>C	p.Asn278Thr	p.N278T	ENST00000253270	NM_007001.2	278	aAt/aCt	0	1	1	UPI000003778E	0	NA	ENST00000253270		ENSG00000130958	20799		40	2.65		HGNC	p.N278T		SLC35D2		SNV							ENST00000253270	protein_coding	getma.org/?cm=var&var=hg19,9,99084361,T,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11132:SF46,hmmpanther:PTHR11132,Pfam_domain:PF03151		N/T		G	medium	896/1613		getma.org/?cm=msa&ty=f&p=S35D2_HUMAN&rb=172&re=314&var=N278T	deleterious(0)	Q5VZJ2_HUMAN			YES	SLC35D2,missense_variant,p.Asn278Thr,ENST00000253270,NM_007001.2;SLC35D2,missense_variant,p.Asn190Thr,ENST00000375259,NM_001286990.1;SLC35D2,intron_variant,,ENST00000490599,;							MODERATE	833/1014	N278T	S35D2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000253270		CCDS6717.1			1	
UPF2	0	LGGM	GRCh37	10	11985109	11985109	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	23	3	.	.	ENST00000356352.2:c.3233A>T	p.Tyr1078Phe	p.Y1078F	ENST00000356352		1078	tAc/tTc	0	1	1	UPI0000070D5E	0	NA	ENST00000356352		ENSG00000151461	17854		26	0.895		HGNC	p.Y1078F		UPF2		SNV							ENST00000397053	protein_coding	getma.org/?cm=var&var=hg19,10,11985109,T,A&fts=all		hmmpanther:PTHR12839,Pfam_domain:PF04050		Y/F		A	low	3707/5569		getma.org/?cm=msa&ty=f&p=RENT2_HUMAN&rb=1013&re=1218&var=Y1078F	tolerated(0.69)	B4DHP3_HUMAN			YES	UPF2,missense_variant,p.Tyr1078Phe,ENST00000356352,;UPF2,missense_variant,p.Tyr1078Phe,ENST00000397053,NM_080599.2;UPF2,missense_variant,p.Tyr1078Phe,ENST00000357604,NM_015542.3;							MODERATE	3233/3819	Y1078F	RENT2_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000348708		CCDS7086.1			1	
MAPK13	0	LGGM	GRCh37	6	36104508	36104508	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	31	3	.	.	ENST00000211287.4:c.571C>T	p.Pro191Ser	p.P191S	ENST00000211287	NM_002754.4	191	Ccc/Tcc	0	1	1	UPI000012F182	0	getma.org/pdb.php?prot=MK13_HUMAN&from=25&to=308&var=P191S	ENST00000211287		ENSG00000156711	6875		34	4.12		HGNC	p.P191S	rs775245798	MAPK13		SNV				9.95E-05			ENST00000211287	protein_coding	getma.org/?cm=var&var=hg19,6,36104508,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF107,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/S		T	high	833/2052		getma.org/?cm=msa&ty=f&p=MK13_HUMAN&rb=25&re=308&var=P191S	deleterious(0)				YES	MAPK13,missense_variant,p.Pro191Ser,ENST00000211287,NM_002754.4;MAPK13,missense_variant,p.Pro181Ser,ENST00000373761,;MAPK13,missense_variant,p.Pro191Ser,ENST00000373766,;MAPK13,missense_variant,p.Pro113Ser,ENST00000373759,;Z95152.1,downstream_gene_variant,,ENST00000408816,;MAPK13,downstream_gene_variant,,ENST00000490334,;MAPK13,downstream_gene_variant,,ENST00000476951,;							MODERATE	571/1098	P191S	MK13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000211287	8.24E-06	CCDS4818.1			1	
DPF2	0	LGGM	GRCh37	11	65113160	65113160	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	20	3	.	.	ENST00000528416.1:c.661C>A	p.Arg221=	p.R221=	ENST00000528416	NM_006268.4	221	Cga/Aga	0	1	1	UPI000000D90F	0		ENST00000528416		ENSG00000133884	9964		23			HGNC	p.R221R		DPF2		SNV							ENST00000528416	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		A		794/2799							YES	DPF2,synonymous_variant,p.=,ENST00000528416,NM_006268.4;DPF2,synonymous_variant,p.=,ENST00000252268,;DPF2,intron_variant,,ENST00000415073,;DPF2,upstream_gene_variant,,ENST00000531989,;DPF2,non_coding_transcript_exon_variant,,ENST00000532264,;DPF2,non_coding_transcript_exon_variant,,ENST00000530993,;DPF2,3_prime_UTR_variant,,ENST00000532102,;DPF2,non_coding_transcript_exon_variant,,ENST00000524666,;DPF2,non_coding_transcript_exon_variant,,ENST00000532052,;DPF2,non_coding_transcript_exon_variant,,ENST00000530973,;DPF2,downstream_gene_variant,,ENST00000444314,;DPF2,downstream_gene_variant,,ENST00000532492,;							LOW	661/1176		REQU_HUMAN			Transcript			.	ENSP00000436901		CCDS8100.1			1	
SYTL2	0	LGGM	GRCh37	11	85406241	85406241	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	19	4	.	.	ENST00000354566.3:c.3816A>G	p.Lys1272=	p.K1272=	ENST00000354566	NM_206927.2	1272	aaA/aaG	0	1		UPI0001AADE5A	0		ENST00000528231		ENSG00000137501	15585		23			HGNC	p.K910K		SYTL2		SNV							ENST00000524452	protein_coding			hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024		K		C		3080/3536				Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,synonymous_variant,p.=,ENST00000359152,NM_206928.2;SYTL2,synonymous_variant,p.=,ENST00000525423,;SYTL2,synonymous_variant,p.=,ENST00000354566,NM_206927.2;SYTL2,synonymous_variant,p.=,ENST00000316356,;SYTL2,synonymous_variant,p.=,ENST00000389960,NM_032943.3;SYTL2,synonymous_variant,p.=,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,synonymous_variant,p.=,ENST00000527523,;SYTL2,synonymous_variant,p.=,ENST00000524452,;SYTL2,synonymous_variant,p.=,ENST00000525702,NM_032379.3;SYTL2,synonymous_variant,p.=,ENST00000530351,;SYTL2,synonymous_variant,p.=,ENST00000389958,NM_206930.2;SYTL2,synonymous_variant,p.=,ENST00000529581,NM_206929.2;SYTL2,synonymous_variant,p.=,ENST00000533892,NM_001162952.1;SYTL2,3_prime_UTR_variant,,ENST00000389959,;SYTL2,3_prime_UTR_variant,,ENST00000532995,;SYTL2,non_coding_transcript_exon_variant,,ENST00000531496,;SYTL2,non_coding_transcript_exon_variant,,ENST00000525692,;SYTL2,downstream_gene_variant,,ENST00000529662,;							LOW	2802/2805		SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
TAF1	0	LGGM	GRCh37	X	70602451	70602451	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	8	4	.	.	ENST00000276072.3:c.1663T>A	p.Ser555Thr	p.S555T	ENST00000276072		555	Tct/Act	0	1		UPI00001367DD	0	NA	ENST00000373790		ENSG00000147133	11535		12	0.55		HGNC	p.S534T		TAF1		SNV			1				ENST00000373790	protein_coding	getma.org/?cm=var&var=hg19,X,70602451,T,A&fts=all		PIRSF_domain:PIRSF003047,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Low_complexity_(Seg):seg		S/T		A	neutral	1651/7629		getma.org/?cm=msa&ty=f&p=TAF1_HUMAN&rb=488&re=564&var=S534T	tolerated(0.4)					TAF1,missense_variant,p.Ser534Thr,ENST00000449580,;TAF1,missense_variant,p.Ser555Thr,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Ser534Thr,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,missense_variant,p.Ser555Thr,ENST00000276072,;TAF1,upstream_gene_variant,,ENST00000478305,;TAF1,downstream_gene_variant,,ENST00000483365,;TAF1,upstream_gene_variant,,ENST00000472567,;							MODERATE	1600/5619	S534T	TAF1_HUMAN			Transcript		benign(0.153)	.	ENSP00000362895		CCDS35325.1			1	
AXIN2	0	LGGM	GRCh37	17	63554207	63554207	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	28	4	.	.	ENST00000307078.5:c.532A>C	p.Ile178Leu	p.I178L	ENST00000307078	NM_004655.3	178	Atc/Ctc	0	1	1	UPI00001AEE5A	0	getma.org/pdb.php?prot=AXIN2_HUMAN&from=81&to=199&var=I178L	ENST00000307078		ENSG00000168646	904		32	3.215		HGNC	p.I178L		AXIN2		SNV			1				ENST00000577278	protein_coding	getma.org/?cm=var&var=hg19,17,63554207,T,G&fts=all		Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF103,SMART_domains:SM00315,Superfamily_domains:SSF48097		I/L		G	medium	846/4259		getma.org/?cm=msa&ty=f&p=AXIN2_HUMAN&rb=81&re=199&var=I178L	deleterious(0)	J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN			YES	AXIN2,missense_variant,p.Ile178Leu,ENST00000307078,NM_004655.3;AXIN2,missense_variant,p.Ile178Leu,ENST00000375702,;AXIN2,missense_variant,p.Ile178Leu,ENST00000580513,;AXIN2,missense_variant,p.Ile178Leu,ENST00000585045,;AXIN2,missense_variant,p.Ile178Leu,ENST00000577278,;AXIN2,downstream_gene_variant,,ENST00000544103,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;							MODERATE	532/2532	I178L	AXIN2_HUMAN			Transcript		benign(0.391)	.	ENSP00000302625		CCDS11662.1			1	
SEMA4A	0	LGGM	GRCh37	1	156130737	156130737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	95	4	.	.	ENST00000368285.3:c.727G>T	p.Val243Phe	p.V243F	ENST00000368285	NM_001193300.1	243	Gtc/Ttc	0	1		UPI000007217A	0	getma.org/pdb.php?prot=SEM4A_HUMAN&from=64&to=478&var=V243F	ENST00000355014		ENSG00000196189	10729		99	3.55		HGNC	p.V243F		SEMA4A		SNV			1				ENST00000435124	protein_coding	getma.org/?cm=var&var=hg19,1,156130737,G,T&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF15,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		V/F		T	high	831/3137		getma.org/?cm=msa&ty=f&p=SEM4A_HUMAN&rb=64&re=478&var=V243F	deleterious(0)	Q9HA40_HUMAN,Q5TCJ7_HUMAN,Q5TCJ5_HUMAN,Q5TCI6_HUMAN,B4DKS5_HUMAN				SEMA4A,missense_variant,p.Val243Phe,ENST00000368285,NM_001193300.1,NM_022367.3;SEMA4A,missense_variant,p.Val243Phe,ENST00000368282,;SEMA4A,missense_variant,p.Val243Phe,ENST00000355014,NM_001193301.1;SEMA4A,missense_variant,p.Val111Phe,ENST00000368286,;SEMA4A,missense_variant,p.Val111Phe,ENST00000368284,NM_001193302.1;SEMA4A,missense_variant,p.Val243Phe,ENST00000435124,;SEMA4A,missense_variant,p.Val144Phe,ENST00000414683,;SEMA4A,missense_variant,p.Val210Phe,ENST00000438830,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000487358,;SEMA4A,downstream_gene_variant,,ENST00000485575,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000466698,;SEMA4A,downstream_gene_variant,,ENST00000470306,;SEMA4A,upstream_gene_variant,,ENST00000462892,;SEMA4A,upstream_gene_variant,,ENST00000469065,;							MODERATE	727/2286	V243F	SEM4A_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000347117		CCDS1132.1			1	
CSMD2	0	LGGM	GRCh37	1	34023458	34023458	+	intron_variant,NMD_transcript_variant	Intron	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	13	4	.	.	ENST00000241312.4:c.8312-7508G>A		*2771*	ENST00000241312				0	1	1	UPI00004561AB	0		ENST00000241312		ENSG00000121904	19290		17			HGNC	p.P2873P	rs377461619	CSMD2		SNV							ENST00000373381	nonsense_mediated_decay		A:0					T		-/13108					A:0	A:0	YES	CSMD2,synonymous_variant,p.=,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,downstream_gene_variant,,ENST00000465819,;CSMD2,intron_variant,,ENST00000241312,;		A:0.0002					MODIFIER	-/10464		CSMD2_HUMAN		A:0	Transcript			.	ENSP00000241312		CCDS380.1		A:0.001	1	
ELL2	0	LGGM	GRCh37	5	95224616	95224616	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	22	4	.	.	ENST00000237853.4:c.1882A>G	p.Ile628Val	p.I628V	ENST00000237853	NM_012081.5	628	Ata/Gta	0	1	1	UPI000013CA27	0	getma.org/pdb.php?prot=ELL2_HUMAN&from=532&to=633&var=I628V	ENST00000237853		ENSG00000118985	17064		26	1.03		HGNC	p.I378V		ELL2		SNV							ENST00000431061	protein_coding	getma.org/?cm=var&var=hg19,5,95224616,T,C&fts=all		Superfamily_domains:0053542,Pfam_domain:PF07303,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF8		I/V		C	low	2232/6046		getma.org/?cm=msa&ty=f&p=ELL2_HUMAN&rb=532&re=633&var=I628V	tolerated(0.05)	Q59FW6_HUMAN,B4DTQ1_HUMAN			YES	ELL2,missense_variant,p.Ile628Val,ENST00000237853,NM_012081.5;ELL2,missense_variant,p.Ile378Val,ENST00000431061,;ELL2,downstream_gene_variant,,ENST00000508757,;							MODERATE	1882/1923	I628V	ELL2_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000237853		CCDS4080.1			1	
SMC4	0	LGGM	GRCh37	3	160120575	160120575	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	34	4	.	.	ENST00000357388.3:c.430G>A	p.Val144Ile	p.V144I	ENST00000357388	NM_001002800.1	144	Gta/Ata	0	1		UPI000006DA0A	0	getma.org/pdb.php?prot=SMC4_HUMAN&from=83&to=1274&var=V144I	ENST00000344722		ENSG00000113810	14013		38	2.79		HGNC	p.V144I		SMC4		SNV							ENST00000462787	protein_coding	getma.org/?cm=var&var=hg19,3,160120575,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF148,Superfamily_domains:SSF52540		V/I		A	medium	775/5356		getma.org/?cm=msa&ty=f&p=SMC4_HUMAN&rb=83&re=1274&var=V144I	deleterious(0)	C9JWF0_HUMAN,C9JVD8_HUMAN,C9JR83_HUMAN,C9JJ64_HUMAN,C9J9E4_HUMAN,C9J578_HUMAN,C9IYK2_HUMAN				SMC4,missense_variant,p.Val144Ile,ENST00000357388,NM_001002800.1;SMC4,missense_variant,p.Val144Ile,ENST00000344722,NM_005496.3;SMC4,missense_variant,p.Val144Ile,ENST00000462787,;SMC4,missense_variant,p.Val144Ile,ENST00000360111,;SMC4,missense_variant,p.Val119Ile,ENST00000469762,;SMC4,missense_variant,p.Val144Ile,ENST00000489573,;SMC4,missense_variant,p.Val144Ile,ENST00000465903,;SMC4,missense_variant,p.Val144Ile,ENST00000490207,;SMC4,missense_variant,p.Val144Ile,ENST00000497311,;SMC4,missense_variant,p.Val72Ile,ENST00000485867,;SMC4,missense_variant,p.Val144Ile,ENST00000485645,;SMC4,missense_variant,p.Val19Ile,ENST00000472991,;SMC4,missense_variant,p.Val19Ile,ENST00000467468,;IFT80,upstream_gene_variant,,ENST00000326448,NM_020800.2;IFT80,upstream_gene_variant,,ENST00000496589,NM_001190241.1;IFT80,upstream_gene_variant,,ENST00000465537,;IFT80,upstream_gene_variant,,ENST00000498409,;IFT80,upstream_gene_variant,,ENST00000489004,;IFT80,upstream_gene_variant,,ENST00000478370,;IFT80,upstream_gene_variant,,ENST00000468218,;IFT80,upstream_gene_variant,,ENST00000478536,;IFT80,upstream_gene_variant,,ENST00000486856,;IFT80,upstream_gene_variant,,ENST00000475677,;MIR15B,upstream_gene_variant,,ENST00000385045,;MIR16-2,upstream_gene_variant,,ENST00000362117,;SMC4,non_coding_transcript_exon_variant,,ENST00000472282,;IFT80,upstream_gene_variant,,ENST00000477495,;SMC4,upstream_gene_variant,,ENST00000470240,;IFT80,upstream_gene_variant,,ENST00000472773,;SMC4,upstream_gene_variant,,ENST00000487747,;IFT80,upstream_gene_variant,,ENST00000478460,;IFT80,upstream_gene_variant,,ENST00000468327,;IFT80,upstream_gene_variant,,ENST00000465972,;SMC4,upstream_gene_variant,,ENST00000497984,;IFT80,upstream_gene_variant,,ENST00000466326,;IFT80,upstream_gene_variant,,ENST00000498145,;SMC4,non_coding_transcript_exon_variant,,ENST00000468653,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,intron_variant,,ENST00000469858,;IFT80,upstream_gene_variant,,ENST00000487943,;IFT80,upstream_gene_variant,,ENST00000467254,;IFT80,upstream_gene_variant,,ENST00000482317,;							MODERATE	430/3867	V144I	SMC4_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000341382		CCDS3189.1			1	
TIMELESS	0	LGGM	GRCh37	12	56823982	56823982	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	8	4	.	.	ENST00000553532.1:c.993G>A	p.Gln331=	p.Q331=	ENST00000553532		331	caG/caA	0	1	1	UPI000013C8EA	0		ENST00000553532		ENSG00000111602	11813		12			HGNC	p.Q331Q		TIMELESS		SNV							ENST00000554616	protein_coding			hmmpanther:PTHR22940:SF4,hmmpanther:PTHR22940		Q		T		1144/4371							YES	TIMELESS,synonymous_variant,p.=,ENST00000229201,NM_003920.3;TIMELESS,synonymous_variant,p.=,ENST00000553532,;TIMELESS,synonymous_variant,p.=,ENST00000554616,;							LOW	993/3627		TIM_HUMAN			Transcript			.	ENSP00000450607		CCDS8918.1			1	
PDE10A	0	LGGM	GRCh37	6	165827107	165827107	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	15	4	.	.	ENST00000539869.2:c.1160G>C	p.Ser387Thr	p.S387T	ENST00000539869	NM_001130690.2	387	aGc/aCc	0	1		UPI0000039E34	0	getma.org/pdb.php?prot=PDE10_HUMAN&from=266&to=412&var=S377T	ENST00000366882		ENSG00000112541	8772		19	0.715		HGNC	p.S377T		PDE10A		SNV							ENST00000354448	protein_coding	getma.org/?cm=var&var=hg19,6,165827107,C,G&fts=all		Superfamily_domains:SSF55781,SMART_domains:SM00065,Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79		S/T		G	neutral	1285/8233		getma.org/?cm=msa&ty=f&p=PDE10_HUMAN&rb=266&re=412&var=S377T	tolerated(0.23)	Q9HCQ1_HUMAN				PDE10A,missense_variant,p.Ser377Thr,ENST00000366882,;PDE10A,missense_variant,p.Ser377Thr,ENST00000354448,;PDE10A,missense_variant,p.Ser387Thr,ENST00000539869,NM_001130690.2;RNA5SP226,downstream_gene_variant,,ENST00000362653,;							MODERATE	1130/2340	S377T	PDE10_HUMAN			Transcript		benign(0.01)	.	ENSP00000355847					1	
TP53	0	LGGM	GRCh37	17	7577127	7577127	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	3	4	.	.	ENST00000269305.4:c.811G>A	p.Glu271Lys	p.E271K	ENST00000269305	NM_001126112.2	271	Gag/Aag	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=E271K	ENST00000269305		ENSG00000141510	11998		7	2.65		HGNC	p.E271K	TP53_g.13791G>A,COSM10719,COSM254988,COSM3403256,COSM1646807	TP53		SNV			1			0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577127,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		E/K		T	medium	1001/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=E271K	deleterious(0)	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			YES	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,;					0,1,1,1,1		MODERATE	811/1182	E271K	P53_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000269305		CCDS11118.1			1	
FAM8A1	0	LGGM	GRCh37	6	17600767	17600778	+	inframe_deletion	In_Frame_Del	DEL	CCCCAGGCCGAA	CCCCAGGCCGAA	-	novel	by Submitter	H060859	H060859N.bam	CCCCAGGCCGAA	CCCCAGGCCGAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	6	4	.	.	ENST00000259963.3:c.136_147del	p.Glu46_Ala49del	p.E46_A49del	ENST00000259963	NM_016255.2	43	CCCCAGGCCGAA/-	0	1	1	UPI0000062300	0		ENST00000259963		ENSG00000137414	16372	0.00043	10			HGNC	p.43_46del	rs774504102	FAM8A1	0.000405	deletion				0.00313			ENST00000259963	protein_coding			hmmpanther:PTHR13659		PQAE/-		-		182-193/4677				B4DK49_HUMAN			YES	FAM8A1,inframe_deletion,p.Glu46_Ala49del,ENST00000259963,NM_016255.2;	0.0156						MODERATE	127-138/1242		FA8A1_HUMAN			Transcript	9		common_variant	ENSP00000259963	0.000631	CCDS4540.1			1	
IQGAP3	0	LGGM	GRCh37	1	156518238	156518238	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	53	4	.	.	ENST00000361170.2:c.2035A>T	p.Thr679Ser	p.T679S	ENST00000361170	NM_178229.4	679	Act/Tct	0	1	1	UPI000046FFDD	0	NA	ENST00000361170		ENSG00000183856	20669		57	-0.92		HGNC	p.T679S		IQGAP3		SNV							ENST00000361170	protein_coding	getma.org/?cm=var&var=hg19,1,156518238,T,A&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10		T/S		A	neutral	2046/5988		getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=550&re=731&var=T679S	tolerated(0.41)	F2Z2E2_HUMAN			YES	IQGAP3,missense_variant,p.Thr679Ser,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Thr636Ser,ENST00000491900,;							MODERATE	2035/4896	T679S	IQGA3_HUMAN			Transcript		benign(0.002)	.	ENSP00000354451		CCDS1144.1			1	
RNF213	0	LGGM	GRCh37	17	78363159	78363159	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	8	5	.	.	ENST00000582970.1:c.15187G>A	p.Val5063Met	p.V5063M	ENST00000582970	NM_001256071.1	5063	Gtg/Atg	0	1	1	UPI0001D3BDB1	0	NA	ENST00000582970		ENSG00000173821	14539		13	2.39		HGNC	p.V5112M		RNF213		SNV			1				ENST00000508628	protein_coding	getma.org/?cm=var&var=hg19,17,78363159,G,A&fts=all		hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		V/M		A	medium	15330/21055		getma.org/?cm=msa&ty=f&p=RN213_HUMAN&rb=4909&re=5108&var=V5063M		H3BLU6_HUMAN			YES	RNF213,missense_variant,p.Val5063Met,ENST00000582970,NM_001256071.1;RNF213,missense_variant,p.Val5112Met,ENST00000508628,;RNF213,missense_variant,p.Val3136Met,ENST00000336301,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,intron_variant,,ENST00000573394,;RNF213,non_coding_transcript_exon_variant,,ENST00000427003,;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,;RNF213,non_coding_transcript_exon_variant,,ENST00000560083,;RNF213,non_coding_transcript_exon_variant,,ENST00000573919,;RNF213,downstream_gene_variant,,ENST00000570776,;							MODERATE	15187/15624	V5063M	RN213_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000464087		CCDS58606.1			1	
SYNE4	0	LGGM	GRCh37	19	36496326	36496326	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	8	5	.	.	ENST00000324444.3:c.881C>G	p.Ser294Cys	p.S294C	ENST00000324444	NM_001039876.1	294	tCt/tGt	0	1	1	UPI00006CA35A	0	NA	ENST00000324444		ENSG00000181392	26703		13	0.695		HGNC	p.S181C		SYNE4		SNV			1				ENST00000340477	protein_coding	getma.org/?cm=var&var=hg19,19,36496326,G,C&fts=all		hmmpanther:PTHR21640,hmmpanther:PTHR21640:SF0		S/C		C	neutral	993/1354		getma.org/?cm=msa&ty=f&p=SYNE4_HUMAN&rb=201&re=346&var=S294C	tolerated_low_confidence(0.06)				YES	SYNE4,missense_variant,p.Ser294Cys,ENST00000324444,NM_001039876.1;SYNE4,missense_variant,p.Ser181Cys,ENST00000340477,;SYNE4,missense_variant,p.Ser18Cys,ENST00000397428,;SYNE4,synonymous_variant,p.=,ENST00000490730,;SYNE4,intron_variant,,ENST00000503121,;ALKBH6,downstream_gene_variant,,ENST00000486389,;ALKBH6,downstream_gene_variant,,ENST00000378875,NM_198867.1,NM_032878.3;ALKBH6,downstream_gene_variant,,ENST00000485128,;ALKBH6,downstream_gene_variant,,ENST00000252984,;ALKBH6,downstream_gene_variant,,ENST00000495116,;SYNE4,non_coding_transcript_exon_variant,,ENST00000465425,;SYNE4,non_coding_transcript_exon_variant,,ENST00000505054,;ALKBH6,downstream_gene_variant,,ENST00000471323,;AC002116.8,downstream_gene_variant,,ENST00000473572,;ALKBH6,downstream_gene_variant,,ENST00000392183,;ALKBH6,downstream_gene_variant,,ENST00000490986,;ALKBH6,downstream_gene_variant,,ENST00000490483,;ALKBH6,downstream_gene_variant,,ENST00000461668,;ALKBH6,downstream_gene_variant,,ENST00000497999,;ALKBH6,downstream_gene_variant,,ENST00000462793,;							MODERATE	881/1215	S294C	SYNE4_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000316130		CCDS42553.1			1	
DIP2C	0	LGGM	GRCh37	10	372983	372983	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	14	5	.	.	ENST00000280886.6:c.3887C>G	p.Ser1296Trp	p.S1296W	ENST00000280886	NM_014974.2	1296	tCg/tGg	0	1	1	UPI00001833B9	0	getma.org/pdb.php?prot=DIP2C_HUMAN&from=1003&to=1475&var=S1296W	ENST00000280886		ENSG00000151240	29150		19	1.665		HGNC	p.S1296W		DIP2C		SNV							ENST00000280886	protein_coding	getma.org/?cm=var&var=hg19,10,372983,G,C&fts=all		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Pfam_domain:PF00501,Superfamily_domains:SSF56801		S/W		C	low	3975/7894		getma.org/?cm=msa&ty=f&p=DIP2C_HUMAN&rb=1003&re=1475&var=S1296W	deleterious(0)				YES	DIP2C,missense_variant,p.Ser1296Trp,ENST00000280886,NM_014974.2;DIP2C,missense_variant,p.Ser77Trp,ENST00000434695,;							MODERATE	3887/4671	S1296W	DIP2C_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000280886		CCDS7054.1			1	
FANCM	0	LGGM	GRCh37	14	45646146	45646146	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	20	5	.	.	ENST00000267430.5:c.4189A>G	p.Met1397Val	p.M1397V	ENST00000267430	NM_020937.2	1397	Atg/Gtg	0	1	1	UPI000059F032	0	NA	ENST00000267430		ENSG00000187790	23168		25	-0.55		HGNC	p.M1397V	rs376581960	FANCM	6.16E-05	SNV	G:0.0002		1				ENST00000267430	protein_coding	getma.org/?cm=var&var=hg19,14,45646146,A,G&fts=all		hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		M/V	G:0	G	neutral	4274/7111	1.58E-05	getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=795&re=1428&var=M1397V	tolerated(0.54)				YES	FANCM,missense_variant,p.Met1397Val,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Met1371Val,ENST00000542564,;FANCM,missense_variant,p.Met913Val,ENST00000556250,;FANCM,missense_variant,p.Met330Val,ENST00000554809,;FANCM,upstream_gene_variant,,ENST00000555013,;	0.000118						MODERATE	4189/6147	M1397V	FANCM_HUMAN			Transcript		benign(0)	.	ENSP00000267430	3.31E-05	CCDS32070.1			1	
NCOR1	0	LGGM	GRCh37	17	15968244	15968244	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	36	5	.	.	ENST00000268712.3:c.5041A>G	p.Ile1681Val	p.I1681V	ENST00000268712	NM_006311.3	1681	Att/Gtt	0	1	1	UPI000013D7D5	0	NA	ENST00000268712		ENSG00000141027	7672		41	1.87		HGNC	p.I1697V	rs373987151	NCOR1	6.06E-05	SNV	C:0.0002						ENST00000395851	protein_coding	getma.org/?cm=var&var=hg19,17,15968244,T,C&fts=all		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5		I/V	C:0	C	low	5299/10720		getma.org/?cm=msa&ty=f&p=NCOR1_HUMAN&rb=1671&re=1870&var=I1681V		Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN			YES	NCOR1,missense_variant,p.Ile1681Val,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Ile1697Val,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Ile265Val,ENST00000395857,;NCOR1,missense_variant,p.Ile312Val,ENST00000395849,;NCOR1,non_coding_transcript_exon_variant,,ENST00000470782,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;NCOR1,non_coding_transcript_exon_variant,,ENST00000584872,;							MODERATE	5041/7323	I1681V	NCOR1_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000268712	8.24E-06	CCDS11175.1			1	
KDM4A	0	LGGM	GRCh37	1	44160501	44160501	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	24	5	.	.	ENST00000372396.3:c.2606A>C	p.Gln869Pro	p.Q869P	ENST00000372396	NM_014663.2	869	cAg/cCg	0	1	1	UPI000013D35A	0	NA	ENST00000372396		ENSG00000066135	22978		29	1.895		HGNC	p.Q869P		KDM4A		SNV							ENST00000372396	protein_coding	getma.org/?cm=var&var=hg19,1,44160501,A,C&fts=all		hmmpanther:PTHR10694:SF36,hmmpanther:PTHR10694,Pfam_domain:PF13832,SMART_domains:SM00249		Q/P		C	low	2740/4474		getma.org/?cm=msa&ty=f&p=KDM4A_HUMAN&rb=773&re=884&var=Q869P	deleterious(0)	B4DGH3_HUMAN			YES	KDM4A,missense_variant,p.Gln869Pro,ENST00000372396,NM_014663.2;KDM4A-AS1,downstream_gene_variant,,ENST00000398804,;KDM4A,downstream_gene_variant,,ENST00000481296,;							MODERATE	2606/3195	Q869P	KDM4A_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000361473		CCDS491.1			1	
CCDC74A	0	LGGM	GRCh37	2	132290448	132290448	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	31	5	.	.	ENST00000295171.6:c.888C>T	p.Leu296=	p.L296=	ENST00000295171	NM_138770.2	296	ctC/ctT	0	1	1	UPI000006E43A	0		ENST00000295171		ENSG00000163040	25197		36			HGNC	p.S185L		CCDC74A		SNV							ENST00000434330	protein_coding			Pfam_domain:PF14917		L		T		1026/1543							YES	CCDC74A,missense_variant,p.Ser185Leu,ENST00000434330,;CCDC74A,synonymous_variant,p.=,ENST00000295171,NM_138770.2,NM_001258305.1,NM_001258304.1;CCDC74A,synonymous_variant,p.=,ENST00000409856,NM_001258306.1;CCDC74A,3_prime_UTR_variant,,ENST00000467992,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;							LOW	888/1137		CC74A_HUMAN			Transcript			.	ENSP00000295171		CCDS2167.1			1	
KIAA1524	0	LGGM	GRCh37	3	108272579	108272579	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	15	6	.	.	ENST00000295746.8:c.2325-2A>G		p.X775_splice	ENST00000295746	NM_020890.2			0	1	1	UPI0000209EFF	0		ENST00000295746		ENSG00000163507	29302		21			HGNC	-		KIAA1524		SNV							ENST00000491772	protein_coding							C		-/4075							YES	KIAA1524,splice_acceptor_variant,,ENST00000295746,NM_020890.2;KIAA1524,splice_acceptor_variant,,ENST00000491772,;KIAA1524,splice_acceptor_variant,,ENST00000481530,;							HIGH	2325/2718		CIP2A_HUMAN			Transcript			.	ENSP00000295746		CCDS33812.1			1	
KCNC3	0	LGGM	GRCh37	19	50826781	50826781	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	24	6	.	.	ENST00000477616.1:c.1429G>T	p.Asp477Tyr	p.D477Y	ENST00000477616	NM_004977.2	477	Gat/Tat	0	1	1	UPI000013EA5D	0	getma.org/pdb.php?prot=KCNC3_HUMAN&from=350&to=538&var=D477Y	ENST00000477616		ENSG00000131398	6235		30	1.825		HGNC	p.D477Y		KCNC3		SNV			1				ENST00000376959	protein_coding	getma.org/?cm=var&var=hg19,19,50826781,C,A&fts=all		hmmpanther:PTHR11537:SF123,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324		D/Y		A	low	1724/3176		getma.org/?cm=msa&ty=f&p=KCNC3_HUMAN&rb=350&re=538&var=D477Y	deleterious(0)				YES	KCNC3,missense_variant,p.Asp477Tyr,ENST00000376959,;KCNC3,missense_variant,p.Asp477Tyr,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000474951,;KCNC3,intron_variant,,ENST00000391818,;							MODERATE	1429/2274	D477Y	KCNC3_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000434241		CCDS12793.1			1	
EFCAB5	0	LGGM	GRCh37	17	28378152	28378152	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	29	6	.	.	ENST00000394835.3:c.1217G>A	p.Arg406Gln	p.R406Q	ENST00000394835	NM_198529.3	406	cGg/cAg	0	1	1	UPI0000E59EF5	0	NA	ENST00000394835		ENSG00000176927	24801		35	2.295		HGNC	p.R212Q	rs772213988	EFCAB5		SNV				0.000102			ENST00000419434	protein_coding	getma.org/?cm=var&var=hg19,17,28378152,G,A&fts=all		hmmpanther:PTHR31938,hmmpanther:PTHR31938:SF3		R/Q		A	medium	1409/5132		getma.org/?cm=msa&ty=f&p=EFCB5_HUMAN&rb=1&re=1501&var=R406Q	deleterious(0)	C9J1E6_HUMAN			YES	EFCAB5,missense_variant,p.Arg406Gln,ENST00000394835,NM_198529.3;EFCAB5,missense_variant,p.Arg406Gln,ENST00000320856,;EFCAB5,missense_variant,p.Arg212Gln,ENST00000419434,;EFCAB5,missense_variant,p.Arg406Gln,ENST00000394832,;EFCAB5,missense_variant,p.Arg406Gln,ENST00000378738,;EFCAB5,missense_variant,p.Arg350Gln,ENST00000536908,NM_001145053.1;EFCAB5,missense_variant,p.Arg205Gln,ENST00000588978,;EFCAB5,missense_variant,p.Arg63Gln,ENST00000541045,;EFCAB5,non_coding_transcript_exon_variant,,ENST00000584826,;EFCAB5,missense_variant,p.Arg406Gln,ENST00000440741,;EFCAB5,3_prime_UTR_variant,,ENST00000423598,;EFCAB5,upstream_gene_variant,,ENST00000581617,;							MODERATE	1217/4512	R406Q	EFCB5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378312	8.28E-06	CCDS11254.2			1	
GPR116	0	LGGM	GRCh37	6	46826738	46826738	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	39	6	.	.	ENST00000283296.7:c.2902T>A	p.Trp968Arg	p.W968R	ENST00000283296	NM_001098518.1	968	Tgg/Agg	0	1		UPI000007075A	0	getma.org/pdb.php?prot=GP116_HUMAN&from=950&to=997&var=W968R	ENST00000265417		ENSG00000069122	19030		45	4.335		HGNC	p.W968R		GPR116		SNV							ENST00000362015	protein_coding	getma.org/?cm=var&var=hg19,6,46826738,A,T&fts=all		Pfam_domain:PF01825,PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,SMART_domains:SM00303		W/R		T	high	3136/5668		getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=950&re=997&var=W968R	deleterious(0)					GPR116,missense_variant,p.Trp968Arg,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Trp968Arg,ENST00000362015,;GPR116,missense_variant,p.Trp968Arg,ENST00000265417,NM_015234.4;GPR116,missense_variant,p.Trp826Arg,ENST00000456426,;GPR116,missense_variant,p.Trp397Arg,ENST00000545669,;GPR116,downstream_gene_variant,,ENST00000498632,;							MODERATE	2902/4041	W968R	GP116_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265417		CCDS4919.1			1	
TMEM246	0	LGGM	GRCh37	9	104238666	104238666	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	28	6	.	.	ENST00000374851.1:c.709C>A	p.Leu237Ile	p.L237I	ENST00000374851		237	Ctc/Atc	0	1		UPI000006D08E	0	NA	ENST00000374847		ENSG00000165152	28180		34	1.175		HGNC	p.L237I		TMEM246		SNV							ENST00000374851	protein_coding	getma.org/?cm=var&var=hg19,9,104238666,G,T&fts=all		hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1		L/I		T	low	1010/4223		getma.org/?cm=msa&ty=f&p=TM246_HUMAN&rb=201&re=400&var=L237I	tolerated(0.06)					TMEM246,missense_variant,p.Leu237Ile,ENST00000374851,;TMEM246,missense_variant,p.Leu237Ile,ENST00000374848,NM_032342.1;TMEM246,missense_variant,p.Leu237Ile,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,;							MODERATE	709/1212	L237I	TM246_HUMAN			Transcript		benign(0.168)	.	ENSP00000363980		CCDS6757.1			1	
CADM3	0	LGGM	GRCh37	1	159170670	159170670	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	47	6	.	.	ENST00000368124.4:c.1257C>A	p.Gly419=	p.G419=	ENST00000368124	NM_021189.3	419	ggC/ggA	0	1		UPI0000031579	0		ENST00000368125		ENSG00000162706	17601		53			HGNC	p.G385G		CADM3		SNV							ENST00000368125	protein_coding			hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF57		G		A		1312/3745								CADM3,synonymous_variant,p.=,ENST00000368125,NM_001127173.1;CADM3,synonymous_variant,p.=,ENST00000368124,NM_021189.3;DARC,upstream_gene_variant,,ENST00000537147,;DARC,upstream_gene_variant,,ENST00000368122,NM_002036.3;DARC,upstream_gene_variant,,ENST00000368121,NM_001122951.2;CADM3,downstream_gene_variant,,ENST00000416746,;DARC,upstream_gene_variant,,ENST00000435307,;CTA-134P22.2,non_coding_transcript_exon_variant,,ENST00000415675,;CTA-134P22.2,downstream_gene_variant,,ENST00000609696,;CADM3,non_coding_transcript_exon_variant,,ENST00000497636,;							LOW	1155/1197		CADM3_HUMAN			Transcript			.	ENSP00000357107		CCDS44251.1			1	
CRHR2	0	LGGM	GRCh37	7	30721890	30721890	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	5	6	.	.	ENST00000348438.4:c.185-234G>T		*62*	ENST00000348438	NM_001202475.1			0	1		UPI0000061EDF	0	getma.org/pdb.php?prot=CRFR2_HUMAN&from=1&to=36&var=A3S	ENST00000471646		ENSG00000106113	2358		11	0		HGNC	p.A3S		CRHR2		SNV							ENST00000471646	protein_coding	getma.org/?cm=var&var=hg19,7,30721890,C,A&fts=all				A/S		A	neutral	425/2530		getma.org/?cm=msa&ty=f&p=CRFR2_HUMAN&rb=1&re=36&var=A3S	tolerated_low_confidence(0.41)					CRHR2,missense_variant,p.Ala3Ser,ENST00000471646,NM_001202483.1,NM_001202482.1,NM_001883.4;CRHR2,missense_variant,p.Ala3Ser,ENST00000506074,;CRHR2,synonymous_variant,p.=,ENST00000445981,;CRHR2,intron_variant,,ENST00000348438,NM_001202475.1,NM_001202481.1;CRHR2,intron_variant,,ENST00000341843,;CRHR2,downstream_gene_variant,,ENST00000462882,;CRHR2,3_prime_UTR_variant,,ENST00000423776,;CRHR2,intron_variant,,ENST00000452278,;							MODERATE	7/1236	A3S	CRFR2_HUMAN			Transcript		benign(0.004)	.	ENSP00000418722		CCDS5429.1			1	
ZNF521	0	LGGM	GRCh37	18	22805856	22805856	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	58	6	.	.	ENST00000361524.3:c.2026C>A	p.Gln676Lys	p.Q676K	ENST00000361524	NM_015461.2	676	Caa/Aaa	0	1	1	UPI000006F982	0	NA	ENST00000361524		ENSG00000198795	24605		64	0.065		HGNC	p.Q456K		ZNF521		SNV							ENST00000584787	protein_coding	getma.org/?cm=var&var=hg19,18,22805856,G,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF00096,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157		Q/K		T	neutral	2175/4871		getma.org/?cm=msa&ty=f&p=ZN521_HUMAN&rb=644&re=706&var=Q676K	deleterious(0.01)	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN			YES	ZNF521,missense_variant,p.Gln676Lys,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Gln456Lys,ENST00000584787,;ZNF521,missense_variant,p.Gln676Lys,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.Gln676Lys,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;							MODERATE	2026/3936	Q676K	ZN521_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000354794		CCDS32806.1			1	
RALGAPB	0	LGGM	GRCh37	20	37144866	37144866	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	38	6	.	.	ENST00000262879.6:c.904A>G	p.Ile302Val	p.I302V	ENST00000262879		302	Ata/Gta	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		44	0.57		HGNC	p.I130V	rs367559863,COSM1615572	RALGAPB		SNV	G:0					0,1	ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37144866,A,G&fts=all		hmmpanther:PTHR21344		I/V	G:0.0001	G	neutral	1188/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=201&re=400&var=I302V	tolerated(0.4)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Ile302Val,ENST00000262879,;RALGAPB,missense_variant,p.Ile302Val,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Ile80Val,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Ile302Val,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Ile130Val,ENST00000438490,;RALGAPB,missense_variant,p.Ile302Val,ENST00000537204,;MIR548O2,upstream_gene_variant,,ENST00000583129,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;					0,1		MODERATE	904/4485	I302V	RLGPB_HUMAN			Transcript		benign(0.002)	.	ENSP00000262879		CCDS13305.1			1	
ILVBL	0	LGGM	GRCh37	19	15226071	15226071	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	26	6	.	.	ENST00000263383.3:c.1891G>A	p.Ala631Thr	p.A631T	ENST00000263383	NM_006844.4	631	Gct/Act	0	1	1	UPI000007055E	0	NA	ENST00000263383		ENSG00000105135	6041		32	0		HGNC	p.A524T		ILVBL		SNV							ENST00000534378	protein_coding	getma.org/?cm=var&var=hg19,19,15226071,C,T&fts=all		hmmpanther:PTHR18968:SF127,hmmpanther:PTHR18968		A/T		T	neutral	2031/2304		getma.org/?cm=msa&ty=f&p=ILVBL_HUMAN&rb=589&re=632&var=A631T	deleterious(0)	M0R1B5_HUMAN,M0R026_HUMAN,M0QZX5_HUMAN,E9PL44_HUMAN,E9PJS0_HUMAN			YES	ILVBL,missense_variant,p.Ala631Thr,ENST00000263383,NM_006844.4;ILVBL,missense_variant,p.Ala524Thr,ENST00000534378,;SYDE1,downstream_gene_variant,,ENST00000600252,;SYDE1,downstream_gene_variant,,ENST00000342784,NM_033025.4;SYDE1,downstream_gene_variant,,ENST00000600440,;ILVBL,downstream_gene_variant,,ENST00000527093,;ILVBL,downstream_gene_variant,,ENST00000598709,;ILVBL,downstream_gene_variant,,ENST00000600984,;SYDE1,downstream_gene_variant,,ENST00000602203,;ILVBL,downstream_gene_variant,,ENST00000531635,;ILVBL,non_coding_transcript_exon_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000533148,;ILVBL,downstream_gene_variant,,ENST00000534806,;ILVBL,downstream_gene_variant,,ENST00000524779,;ILVBL,downstream_gene_variant,,ENST00000525880,;ILVBL,downstream_gene_variant,,ENST00000596093,;							MODERATE	1891/1899	A631T	ILVBL_HUMAN			Transcript		benign(0.066)	.	ENSP00000263383		CCDS12325.1			1	
PIK3R3	0	LGGM	GRCh37	1	46509496	46509496	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	10	6	.	.	ENST00000262741.5:c.1235G>C	p.Gly412Ala	p.G412A	ENST00000262741	NM_003629.3	412	gGc/gCc	0	1	1	UPI000013D318	0	getma.org/pdb.php?prot=P55G_HUMAN&from=358&to=432&var=G412A	ENST00000262741		ENSG00000117461	8981		16	3.22		HGNC	p.G412A		PIK3R3		SNV							ENST00000420542	protein_coding	getma.org/?cm=var&var=hg19,1,46509496,C,G&fts=all		Prints_domain:PR00678,Superfamily_domains:SSF55550,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR10155,PROSITE_profiles:PS50001		G/A		G	medium	1925/5609		getma.org/?cm=msa&ty=f&p=P55G_HUMAN&rb=358&re=432&var=G412A	deleterious(0)	Q9UMI3_HUMAN,Q5T4P3_HUMAN			YES	PIK3R3,missense_variant,p.Gly412Ala,ENST00000262741,NM_003629.3;PIK3R3,missense_variant,p.Gly412Ala,ENST00000420542,NM_001114172.1;PIK3R3,missense_variant,p.Gly412Ala,ENST00000372006,;PIK3R3,missense_variant,p.Gly353Ala,ENST00000354242,;PIK3R3,missense_variant,p.Gly317Ala,ENST00000340332,;PIK3R3,missense_variant,p.Gly353Ala,ENST00000423209,;PIK3R3,missense_variant,p.Gly458Ala,ENST00000540385,;RP4-533D7.4,upstream_gene_variant,,ENST00000450004,;PIK3R3,non_coding_transcript_exon_variant,,ENST00000488808,;							MODERATE	1235/1386	G412A	P55G_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262741		CCDS529.1			1	
TRIM48	0	LGGM	GRCh37	11	55033101	55033101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	30	6	.	.	ENST00000417545.2:c.485C>T	p.Ser162Phe	p.S162F	ENST00000417545	NM_024114.3	162	tCt/tTt	0	1	1	UPI0000374413	0	NA	ENST00000417545		ENSG00000150244	19021		36	1.12		HGNC	p.S162F		TRIM48		SNV							ENST00000417545	protein_coding	getma.org/?cm=var&var=hg19,11,55033101,C,T&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,Superfamily_domains:SSF57845		S/F		T	low	571/1445		getma.org/?cm=msa&ty=f&p=TRI48_HUMAN&rb=130&re=208&var=S146F	tolerated(0.14)				YES	TRIM48,missense_variant,p.Ser162Phe,ENST00000417545,NM_024114.3;RP11-72M10.2,upstream_gene_variant,,ENST00000526762,;							MODERATE	485/675	S146F	TRI48_HUMAN			Transcript		benign(0.111)	.	ENSP00000402414		CCDS7947.2			1	
IFNK	0	LGGM	GRCh37	9	27524654	27524654	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	107	7	.	.	ENST00000276943.2:c.320A>G	p.Lys107Arg	p.K107R	ENST00000276943	NM_020124.2	107	aAa/aGa	0	1	1	UPI0000040ABD	0	getma.org/pdb.php?prot=IFNK_HUMAN&from=33&to=206&var=K107R	ENST00000276943		ENSG00000147896	21714		114	1.245		HGNC	p.K107R		IFNK		SNV							ENST00000276943	protein_coding	getma.org/?cm=var&var=hg19,9,27524654,A,G&fts=all		hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF6,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266		K/R		G	low	343/1140		getma.org/?cm=msa&ty=f&p=IFNK_HUMAN&rb=33&re=206&var=K107R	deleterious(0.04)				YES	IFNK,missense_variant,p.Lys107Arg,ENST00000276943,NM_020124.2;MOB3B,intron_variant,,ENST00000262244,NM_024761.4;							MODERATE	320/624	K107R	IFNK_HUMAN			Transcript		benign(0.017)	.	ENSP00000276943		CCDS6521.1			1	
MS4A14	0	LGGM	GRCh37	11	60184365	60184365	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	25	7	.	.	ENST00000531783.1:c.2023C>T	p.Gln675Ter	p.Q675*	ENST00000531783	NM_001261828.1	675	Caa/Taa	0	1		UPI000013E636	0	NA	ENST00000300187		ENSG00000166928	30706		32	0		HGNC	p.Q642X	rs773984042	MS4A14		SNV							ENST00000300187	protein_coding	getma.org/?cm=var&var=hg19,11,60184365,C,T&fts=all				Q/*		T	NA	2201/2997	1.50E-05	NA		F6X344_HUMAN				MS4A14,stop_gained,p.Gln642Ter,ENST00000300187,NM_032597.4;MS4A14,stop_gained,p.Gln675Ter,ENST00000531783,NM_001261828.1;MS4A14,stop_gained,p.Gln625Ter,ENST00000395005,NM_001079692.2;MS4A14,stop_gained,p.Gln530Ter,ENST00000531787,;MS4A14,downstream_gene_variant,,ENST00000395001,;MS4A14,3_prime_UTR_variant,,ENST00000530662,;MS4A14,3_prime_UTR_variant,,ENST00000527841,;MS4A14,3_prime_UTR_variant,,ENST00000525397,;							HIGH	1924/2040	Q642*	M4A14_HUMAN			Transcript			.	ENSP00000300187	8.24E-06	CCDS31569.1			1	
ECI2	0	LGGM	GRCh37	6	4131033	4131033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	64	7	.	.	ENST00000380118.3:c.280G>T	p.Asp94Tyr	p.D94Y	ENST00000380118		94	Gac/Tac	0	1	1	UPI000004ECA9	0	getma.org/pdb.php?prot=ECI2_HUMAN&from=39&to=123&var=D94Y	ENST00000380118		ENSG00000198721	14601		71	3.295		HGNC	p.D64Y		ECI2		SNV							ENST00000465828	protein_coding	getma.org/?cm=var&var=hg19,6,4131033,C,A&fts=all		Gene3D:1.20.80.10,Pfam_domain:PF00887,Prints_domain:PR00689,PROSITE_profiles:PS51228,hmmpanther:PTHR23310,hmmpanther:PTHR23310:SF55,Superfamily_domains:SSF47027		D/Y		A	medium	317/1407		getma.org/?cm=msa&ty=f&p=ECI2_HUMAN&rb=39&re=123&var=D94Y	deleterious(0)	C9J000_HUMAN,B4DLL3_HUMAN			YES	ECI2,missense_variant,p.Asp64Tyr,ENST00000465828,;ECI2,missense_variant,p.Asp94Tyr,ENST00000380118,;ECI2,missense_variant,p.Asp64Tyr,ENST00000380125,NM_001166010.1;ECI2,missense_variant,p.Asp64Tyr,ENST00000361538,NM_006117.2;ECI2,missense_variant,p.Asp141Tyr,ENST00000495548,;C6orf201,3_prime_UTR_variant,,ENST00000380175,NM_001085401.2;ECI2,5_prime_UTR_variant,,ENST00000413766,NM_206836.2;C6orf201,downstream_gene_variant,,ENST00000333388,;RP3-400B16.4,upstream_gene_variant,,ENST00000527831,;C6orf201,downstream_gene_variant,,ENST00000496987,;ECI2,missense_variant,p.Asp94Tyr,ENST00000380120,;ECI2,missense_variant,p.Asp64Tyr,ENST00000496241,;ECI2,missense_variant,p.Asp94Tyr,ENST00000478266,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;ECI2,non_coding_transcript_exon_variant,,ENST00000489086,;C6orf201,downstream_gene_variant,,ENST00000436110,;C6orf201,downstream_gene_variant,,ENST00000427996,;C6orf201,downstream_gene_variant,,ENST00000451679,;							MODERATE	280/1185	D94Y	ECI2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000369461		CCDS43420.2			1	
CHUK	0	LGGM	GRCh37	10	101964314	101964314	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	32	7	.	.	ENST00000370397.7:c.1456A>G	p.Ser486Gly	p.S486G	ENST00000370397	NM_001278.3	486	Agc/Ggc	0	1	1	UPI000013D6C7	0	getma.org/pdb.php?prot=IKKA_HUMAN&from=298&to=497&var=S486G	ENST00000370397		ENSG00000213341	1974		39	2.415		HGNC	p.S486G		CHUK		SNV			1				ENST00000370397	protein_coding	getma.org/?cm=var&var=hg19,10,101964314,T,C&fts=all		hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13		S/G		C	medium	1543/3625		getma.org/?cm=msa&ty=f&p=IKKA_HUMAN&rb=298&re=497&var=S486G	deleterious(0.01)				YES	CHUK,missense_variant,p.Ser486Gly,ENST00000370397,NM_001278.3;							MODERATE	1456/2238	S486G	IKKA_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000359424		CCDS7488.1			1	
PRDM2	0	LGGM	GRCh37	1	14108323	14108323	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	77	7	.	.	ENST00000235372.7:c.4033A>G	p.Met1345Val	p.M1345V	ENST00000235372	NM_012231.4	1345	Atg/Gtg	0	1	1	UPI000013C9CD	0	NA	ENST00000235372		ENSG00000116731	9347		84	0.55		HGNC	p.M1144V		PRDM2		SNV							ENST00000343137	protein_coding	getma.org/?cm=var&var=hg19,1,14108323,A,G&fts=all		PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,SMART_domains:SM00355		M/V		G	neutral	4889/7957		getma.org/?cm=msa&ty=f&p=PRDM2_HUMAN&rb=1313&re=1376&var=M1345V		S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,missense_variant,p.Met1345Val,ENST00000235372,NM_012231.4;PRDM2,missense_variant,p.Met1345Val,ENST00000311066,NM_015866.4;PRDM2,missense_variant,p.Met1144Val,ENST00000413440,NM_001007257.2;PRDM2,missense_variant,p.Met1144Val,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;							MODERATE	4033/5157	M1345V	PRDM2_HUMAN			Transcript		unknown(0)	.	ENSP00000235372		CCDS150.1			1	
FAM47E-STBD1	0	LGGM	GRCh37	4	77231080	77231080	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	19	7	.	.	ENST00000237642.6:c.1004A>G	p.Glu335Gly	p.E335G	ENST00000237642	NM_003943.4	335	gAa/gGa	0	1	1	UPI000006DB9D	0	getma.org/pdb.php?prot=STBD1_HUMAN&from=263&to=354&var=E335G	ENST00000237642		ENSG00000118804	44667		26	3.54		HGNC	p.E186G		FAM47E-STBD1		SNV							ENST00000539752	protein_coding	getma.org/?cm=var&var=hg19,4,77231080,A,G&fts=all		PROSITE_profiles:PS51166,hmmpanther:PTHR15048,hmmpanther:PTHR15048:SF0,Gene3D:2.60.40.10,Pfam_domain:PF00686,SMART_domains:SM01065,Superfamily_domains:SSF49452		E/G		G	high	1748/3420		getma.org/?cm=msa&ty=f&p=STBD1_HUMAN&rb=263&re=354&var=E335G	deleterious(0)	B3KMK8_HUMAN			YES	FAM47E-STBD1,missense_variant,p.Glu335Gly,ENST00000237642,NM_003943.4;FAM47E-STBD1,missense_variant,p.Glu186Gly,ENST00000539752,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000515604,NM_001242939.1;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514140,;CCDC158,downstream_gene_variant,,ENST00000388914,NM_001042784.1;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000509377,;FAM47E-STBD1,3_prime_UTR_variant,,ENST00000514365,;CCDC158,downstream_gene_variant,,ENST00000504667,;							MODERATE	1004/1077	E335G	STBD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000237642		CCDS3578.1			1	
ERCC6L	0	LGGM	GRCh37	X	71426166	71426166	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	11	7	.	.	ENST00000334463.3:c.2451G>T	p.Gly817=	p.G817=	ENST00000334463	NM_017669.2	817	ggG/ggT	0	1	1	UPI000021233E	0		ENST00000334463		ENSG00000186871	20794		18			HGNC	p.G817G	COSM3694708	ERCC6L		SNV						1	ENST00000334463	protein_coding			hmmpanther:PTHR10799:SF67,hmmpanther:PTHR10799		G		A		2587/4243				B5MDQ0_HUMAN			YES	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,;					1		LOW	2451/3753		ERC6L_HUMAN			Transcript			.	ENSP00000334675		CCDS35329.1			1	
NOP9	0	LGGM	GRCh37	14	24773414	24773414	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	10	8	.	.	ENST00000267425.3:c.1578G>T	p.Val526=	p.V526=	ENST00000267425	NM_174913.1	526	gtG/gtT	0	1	1	UPI000000CBCF	0		ENST00000267425		ENSG00000196943	19826		18			HGNC	p.V526V		NOP9		SNV							ENST00000267425	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR13102,hmmpanther:PTHR13102:SF0,SMART_domains:SM00025,Superfamily_domains:SSF48371		V		T		1671/6033				B3KVY3_HUMAN			YES	NOP9,synonymous_variant,p.=,ENST00000267425,NM_174913.1;NOP9,intron_variant,,ENST00000396802,NM_001286367.1;NOP9,intron_variant,,ENST00000557362,;LTB4R2,upstream_gene_variant,,ENST00000528054,;CIDEB,downstream_gene_variant,,ENST00000336557,;CIDEB,downstream_gene_variant,,ENST00000258807,NM_014430.2;CIDEB,downstream_gene_variant,,ENST00000554411,;DHRS1,upstream_gene_variant,,ENST00000288111,NM_001136050.2;DHRS1,upstream_gene_variant,,ENST00000396813,NM_138452.2;LTB4R2,upstream_gene_variant,,ENST00000527924,;CIDEB,downstream_gene_variant,,ENST00000556756,;DHRS1,upstream_gene_variant,,ENST00000559483,;DHRS1,upstream_gene_variant,,ENST00000561273,;DHRS1,upstream_gene_variant,,ENST00000558340,;DHRS1,upstream_gene_variant,,ENST00000558114,;DHRS1,upstream_gene_variant,,ENST00000560991,;							LOW	1578/1911		NOP9_HUMAN			Transcript			.	ENSP00000267425		CCDS9624.1			1	
ZFAND4	0	LGGM	GRCh37	10	46135392	46135392	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	55	8	.	.	ENST00000344646.5:c.589T>C	p.Ser197Pro	p.S197P	ENST00000344646	NM_174890.2	197	Tca/Cca	0	1	1	UPI0000161363	0	NA	ENST00000344646		ENSG00000172671	23504		63	0		HGNC	p.S197P		ZFAND4		SNV							ENST00000344646	protein_coding	getma.org/?cm=var&var=hg19,10,46135392,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666		S/P		G	neutral	805/3241		getma.org/?cm=msa&ty=f&p=ZFAN4_HUMAN&rb=1&re=200&var=S197P	deleterious(0)	Q5VVY6_HUMAN,J3KPC0_HUMAN			YES	ZFAND4,missense_variant,p.Ser123Pro,ENST00000374366,NM_001282905.1,NM_001282906.1;ZFAND4,missense_variant,p.Ser197Pro,ENST00000344646,NM_174890.2,NM_001128324.2;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;ZFAND4,3_prime_UTR_variant,,ENST00000465407,;							MODERATE	589/2184	S197P	ZFAN4_HUMAN			Transcript		benign(0.148)	.	ENSP00000339484		CCDS7214.1			1	
HIST1H3J	0	LGGM	GRCh37	6	27858234	27858234	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	57	8	.	.	ENST00000359303.2:c.337A>G	p.Ile113Val	p.I113V	ENST00000359303	NM_003535.2	113	Att/Gtt	0	1	1	UPI00000003C7	0		ENST00000359303		ENSG00000197153	4774		65			HGNC	p.I113V		HIST1H3J		SNV							ENST00000359303	protein_coding			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00622,hmmpanther:PTHR11426,SMART_domains:SM00428,Superfamily_domains:SSF47113		I/V		C		337/478			deleterious_low_confidence(0.04)				YES	HIST1H3J,missense_variant,p.Ile113Val,ENST00000359303,NM_003535.2;HIST1H2AM,downstream_gene_variant,,ENST00000359611,NM_003514.2;HIST1H2BO,upstream_gene_variant,,ENST00000303806,NM_003527.4;HIST1H3J,downstream_gene_variant,,ENST00000479986,;							MODERATE	337/411		H31_HUMAN			Transcript		benign(0.03)	.	ENSP00000352252		CCDS4638.1			1	
DCDC1	0	LGGM	GRCh37	11	30953477	30953477	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	49	8	.	.	ENST00000597505.1:c.2738G>T	p.Gly913Val	p.G913V	ENST00000597505		913	gGa/gTa	0	1	1	UPI0002A47319	0		ENST00000597505		ENSG00000170959	20625		57			HGNC	p.G913V		DCDC1		SNV							ENST00000597505	protein_coding					G/V		A		2738/5352			deleterious(0)	M0R2J8_HUMAN				DCDC1,missense_variant,p.Gly913Val,ENST00000597505,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,5_prime_UTR_variant,,ENST00000339794,;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;							MODERATE	2738/5352					Transcript		probably_damaging(0.979)	.	ENSP00000472625					1	
NOP9	0	LGGM	GRCh37	14	24773415	24773415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	9	8	.	.	ENST00000267425.3:c.1579C>T	p.Leu527Phe	p.L527F	ENST00000267425	NM_174913.1	527	Ctc/Ttc	0	1	1	UPI000000CBCF	0	getma.org/pdb.php?prot=CN021_HUMAN&from=401&to=600&var=L527F	ENST00000267425		ENSG00000196943	19826		17	1.385		HGNC	p.L527F		NOP9		SNV							ENST00000267425	protein_coding	getma.org/?cm=var&var=hg19,14,24773415,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR13102,hmmpanther:PTHR13102:SF0,SMART_domains:SM00025,Superfamily_domains:SSF48371		L/F		T	low	1672/6033		getma.org/?cm=msa&ty=f&p=CN021_HUMAN&rb=401&re=600&var=L527F	tolerated(0.3)	B3KVY3_HUMAN			YES	NOP9,missense_variant,p.Leu527Phe,ENST00000267425,NM_174913.1;NOP9,intron_variant,,ENST00000396802,NM_001286367.1;NOP9,intron_variant,,ENST00000557362,;LTB4R2,upstream_gene_variant,,ENST00000528054,;CIDEB,downstream_gene_variant,,ENST00000336557,;CIDEB,downstream_gene_variant,,ENST00000258807,NM_014430.2;CIDEB,downstream_gene_variant,,ENST00000554411,;DHRS1,upstream_gene_variant,,ENST00000288111,NM_001136050.2;DHRS1,upstream_gene_variant,,ENST00000396813,NM_138452.2;LTB4R2,upstream_gene_variant,,ENST00000527924,;CIDEB,downstream_gene_variant,,ENST00000556756,;DHRS1,upstream_gene_variant,,ENST00000559483,;DHRS1,upstream_gene_variant,,ENST00000561273,;DHRS1,upstream_gene_variant,,ENST00000558340,;DHRS1,upstream_gene_variant,,ENST00000558114,;DHRS1,upstream_gene_variant,,ENST00000560991,;							MODERATE	1579/1911	L527F	NOP9_HUMAN			Transcript		benign(0.067)	.	ENSP00000267425		CCDS9624.1			1	
STK38L	0	LGGM	GRCh37	12	27475098	27475098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	41	8	.	.	ENST00000389032.3:c.1198A>G	p.Ile400Val	p.I400V	ENST00000389032	NM_015000.3	400	Ata/Gta	0	1	1	UPI0000035B4A	0	NA	ENST00000389032		ENSG00000211455	17848		49	-0.065		HGNC	p.I307V		STK38L		SNV							ENST00000539577	protein_coding	getma.org/?cm=var&var=hg19,12,27475098,A,G&fts=all		Gene3D:1.10.510.10,PROSITE_profiles:PS51285,hmmpanther:PTHR24358,hmmpanther:PTHR24358:SF6,SMART_domains:SM00133,Superfamily_domains:SSF56112		I/V		G	neutral	1367/5068		getma.org/?cm=msa&ty=f&p=ST38L_HUMAN&rb=384&re=453&var=I400V	tolerated(0.98)	F5H7Z3_HUMAN,F5GY51_HUMAN			YES	STK38L,missense_variant,p.Ile400Val,ENST00000389032,NM_015000.3;STK38L,missense_variant,p.Ile307Val,ENST00000539577,;STK38L,3_prime_UTR_variant,,ENST00000536093,;STK38L,non_coding_transcript_exon_variant,,ENST00000543992,;							MODERATE	1198/1395	I400V	ST38L_HUMAN			Transcript		benign(0.002)	.	ENSP00000373684		CCDS31761.1			1	
BTD	0	LGGM	GRCh37	3	15686529	15686529	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	49	9	.	.	ENST00000303498.5:c.1166A>G	p.Asn389Ser	p.N389S	ENST00000303498	NM_000060.2	389	aAt/aGt	0	1	1	UPI000013E8A8	0	NA	ENST00000303498		ENSG00000169814	1122		58	0.885		HGNC	p.N389S		BTD		SNV			1				ENST00000303498	protein_coding	getma.org/?cm=var&var=hg19,3,15686529,A,G&fts=all		hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,PIRSF_domain:PIRSF011861		N/S		G	low	1275/2075		getma.org/?cm=msa&ty=f&p=BTD_HUMAN&rb=272&re=471&var=N389S	tolerated(0.77)	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN			YES	BTD,missense_variant,p.Asn369Ser,ENST00000383778,NM_001281725.1;BTD,missense_variant,p.Asn391Ser,ENST00000437172,NM_001281724.1;BTD,missense_variant,p.Asn389Ser,ENST00000303498,NM_000060.2;BTD,missense_variant,p.Asn391Ser,ENST00000449107,NM_001281723.1;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;							MODERATE	1166/1632	N389S	BTD_HUMAN			Transcript		benign(0.002)	.	ENSP00000306477		CCDS2628.1			1	
KALRN	0	LGGM	GRCh37	3	123987879	123987879	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	5	9	.	.	ENST00000240874.3:c.740G>A	p.Arg247Gln	p.R247Q	ENST00000240874	NM_003947.4	247	cGg/cAg	0	1	1	UPI000012C095	0	NA	ENST00000240874		ENSG00000160145	4814		14	0.895		HGNC	p.R247Q		KALRN		SNV			1				ENST00000460856	protein_coding	getma.org/?cm=var&var=hg19,3,123987879,G,A&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/Q		A	low	897/6537		getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=182&re=309&var=R247Q	tolerated(0.59)				YES	KALRN,missense_variant,p.Arg247Gln,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Arg225Gln,ENST00000354186,;KALRN,missense_variant,p.Arg247Gln,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Arg247Gln,ENST00000460856,;KALRN,downstream_gene_variant,,ENST00000448253,;KALRN,non_coding_transcript_exon_variant,,ENST00000498499,;							MODERATE	740/4992	R247Q	KALRN_HUMAN			Transcript		benign(0.006)	.	ENSP00000240874		CCDS3027.1			1	
MYH15	0	LGGM	GRCh37	3	108175694	108175694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	77	9	.	.	ENST00000273353.3:c.2117G>A	p.Arg706His	p.R706H	ENST00000273353	NM_014981.1	706	cGc/cAc	0	1	1	UPI0000253B6F	0	getma.org/pdb.php?prot=MYH15_HUMAN&from=105&to=778&var=R706H	ENST00000273353		ENSG00000144821	31073		86	3.405		HGNC	p.R706H	rs776650354	MYH15		SNV							ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108175694,C,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/H		T	medium	2174/7074	1.50E-05	getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=105&re=778&var=R706H	deleterious(0.05)	H9XFA0_HUMAN			YES	MYH15,missense_variant,p.Arg706His,ENST00000273353,NM_014981.1;MYH15,non_coding_transcript_exon_variant,,ENST00000495753,;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;							MODERATE	2117/5841	R706H	MYH15_HUMAN			Transcript		benign(0.031)	.	ENSP00000273353	8.28E-06	CCDS43127.1			1	
ZNF280D	0	LGGM	GRCh37	15	56958984	56958984	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	11	9	.	.	ENST00000267807.7:c.1746A>C	p.Gly582=	p.G582=	ENST00000267807	NM_017661.2	582	ggA/ggC	0	1	1	UPI00003FF962	0		ENST00000267807		ENSG00000137871	25953		20			HGNC	p.G569G		ZNF280D		SNV							ENST00000559237	protein_coding			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF114		G		G		1963/4328				H0YN90_HUMAN			YES	ZNF280D,synonymous_variant,p.=,ENST00000559237,NM_001002843.1;ZNF280D,synonymous_variant,p.=,ENST00000559000,;ZNF280D,synonymous_variant,p.=,ENST00000267807,NM_017661.2,NM_001288588.1;ZNF280D,synonymous_variant,p.=,ENST00000396245,;ZNF280D,synonymous_variant,p.=,ENST00000558067,;ZNF280D,3_prime_UTR_variant,,ENST00000558002,;ZNF280D,non_coding_transcript_exon_variant,,ENST00000560121,;ZNF280D,intron_variant,,ENST00000560002,;							LOW	1746/2940		Z280D_HUMAN			Transcript			.	ENSP00000267807		CCDS32245.1			1	
DHX29	0	LGGM	GRCh37	5	54558588	54558588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	45	9	.	.	ENST00000251636.5:c.3698A>G	p.Tyr1233Cys	p.Y1233C	ENST00000251636	NM_019030.2	1233	tAt/tGt	0	1	1	UPI00001AE72C	0	NA	ENST00000251636		ENSG00000067248	15815		54	0.69		HGNC	p.Y1233C		DHX29		SNV							ENST00000251636	protein_coding	getma.org/?cm=var&var=hg19,5,54558588,T,C&fts=all		Pfam_domain:PF07717,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF82		Y/C		C	neutral	3847/4502		getma.org/?cm=msa&ty=f&p=DHX29_HUMAN&rb=1179&re=1302&var=Y1233C	tolerated(0.21)				YES	DHX29,missense_variant,p.Tyr1233Cys,ENST00000251636,NM_019030.2;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;							MODERATE	3698/4110	Y1233C	DHX29_HUMAN			Transcript		benign(0.004)	.	ENSP00000251636		CCDS34158.1			1	
RNF2	0	LGGM	GRCh37	1	185062325	185062325	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	23	9	.	.	ENST00000367510.3:c.381A>G	p.Val127=	p.V127=	ENST00000367510	NM_007212.3	127	gtA/gtG	0	1	1	UPI000007131D	0		ENST00000367510		ENSG00000121481	10061		32			HGNC	p.V127V		RNF2		SNV							ENST00000453650	protein_coding			Gene3D:3.30.40.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF25		V		G		669/3606							YES	RNF2,synonymous_variant,p.=,ENST00000367510,NM_007212.3;RNF2,synonymous_variant,p.=,ENST00000453650,;RNF2,intron_variant,,ENST00000367509,;RNF2,downstream_gene_variant,,ENST00000498201,;							LOW	381/1011		RING2_HUMAN			Transcript			.	ENSP00000356480		CCDS1365.1			1	
DNAJC14	0	LGGM	GRCh37	12	56216427	56216427	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	13	10	.	.	ENST00000357606.3:c.1724C>T	p.Ala575Val	p.A575V	ENST00000357606		575	gCa/gTa	0	1		UPI000018CE63	0	NA	ENST00000317269		ENSG00000135392	24581		23	0.895		HGNC	p.A16V		DNAJC14		SNV							ENST00000548593	protein_coding	getma.org/?cm=var&var=hg19,12,56216427,G,A&fts=all		hmmpanther:PTHR24078:SF23,hmmpanther:PTHR24078,Pfam_domain:PF14901		A/V		A	low	1928/3330		getma.org/?cm=msa&ty=f&p=DJC14_HUMAN&rb=505&re=693&var=A575V	tolerated(0.25)	F8VYY5_HUMAN,F8VNT6_HUMAN				DNAJC14,missense_variant,p.Ala575Val,ENST00000357606,;DNAJC14,missense_variant,p.Ala575Val,ENST00000317269,NM_032364.5;DNAJC14,missense_variant,p.Ala575Val,ENST00000317287,;RP11-762I7.5,missense_variant,p.Ala205Val,ENST00000546837,;ORMDL2,downstream_gene_variant,,ENST00000243045,NM_014182.4;SARNP,upstream_gene_variant,,ENST00000444631,;SARNP,upstream_gene_variant,,ENST00000336133,NM_033082.3;ORMDL2,downstream_gene_variant,,ENST00000552672,;SARNP,upstream_gene_variant,,ENST00000552080,;ORMDL2,downstream_gene_variant,,ENST00000548974,;ORMDL2,downstream_gene_variant,,ENST00000550836,;RP11-762I7.5,non_coding_transcript_exon_variant,,ENST00000552719,;RP11-762I7.5,missense_variant,p.Ala6Val,ENST00000550124,;RP11-762I7.5,missense_variant,p.Ala16Val,ENST00000548593,;RP11-762I7.5,missense_variant,p.Ala12Val,ENST00000546813,;SARNP,upstream_gene_variant,,ENST00000552207,;SARNP,upstream_gene_variant,,ENST00000546604,;SARNP,upstream_gene_variant,,ENST00000552884,;ORMDL2,downstream_gene_variant,,ENST00000546645,;							MODERATE	1724/2109	A575V	DJC14_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000316240		CCDS8894.1			1	
MYO3B	0	LGGM	GRCh37	2	171248059	171248059	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	9	10	.	.	ENST00000408978.4:c.1607A>G	p.Tyr536Cys	p.Y536C	ENST00000408978	NM_138995.4	536	tAt/tGt	0	1	1	UPI000020907B	0	getma.org/pdb.php?prot=MYO3B_HUMAN&from=345&to=1046&var=Y536C	ENST00000408978		ENSG00000071909	15576		19	1.91		HGNC	p.Y536C	rs374803318	MYO3B		SNV	G:0						ENST00000409044	protein_coding	getma.org/?cm=var&var=hg19,2,171248059,A,G&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456		Y/C	G:0.0001	G	medium	1750/5529	3.19E-05	getma.org/?cm=msa&ty=f&p=MYO3B_HUMAN&rb=345&re=1046&var=Y536C	deleterious(0.01)				YES	MYO3B,missense_variant,p.Tyr545Cys,ENST00000334231,;MYO3B,missense_variant,p.Tyr536Cys,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Tyr536Cys,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Tyr545Cys,ENST00000484338,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.Tyr536Cys,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;							MODERATE	1607/4026	Y536C	MYO3B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386213	1.66E-05	CCDS42773.1			1	
LAMA2	0	LGGM	GRCh37	6	129573310	129573310	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	6	10	.	.	ENST00000421865.2:c.1966A>T	p.Lys656Ter	p.K656*	ENST00000421865	NM_001079823.1	656	Aaa/Taa	0	1	1	UPI00003673E0	0	NA	ENST00000421865		ENSG00000196569	6482		16	0		HGNC	p.K656X		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129573310,A,T&fts=all		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00281		K/*		T	NA	2015/9640		NA		Q59H37_HUMAN			YES	LAMA2,stop_gained,p.Lys656Ter,ENST00000421865,NM_001079823.1,NM_000426.3;							HIGH	1966/9369	K656*	LAMA2_HUMAN			Transcript			.	ENSP00000400365		CCDS5138.1			1	
ADD3	0	LGGM	GRCh37	10	111872623	111872623	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	40	10	.	.	ENST00000356080.4:c.284C>T	p.Ala95Val	p.A95V	ENST00000356080	NM_016824.3	95	gCa/gTa	0	1	1	UPI0000125505	0	NA	ENST00000356080		ENSG00000148700	245		50	2.545		HGNC	p.A95V		ADD3		SNV			1				ENST00000356080	protein_coding	getma.org/?cm=var&var=hg19,10,111872623,C,T&fts=all		hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF5		A/V		T	medium	651/3081		getma.org/?cm=msa&ty=f&p=ADDG_HUMAN&rb=1&re=138&var=A95V	deleterious(0.03)	Q5VU08_HUMAN			YES	ADD3,missense_variant,p.Ala95Val,ENST00000277900,NM_001121.2;ADD3,missense_variant,p.Ala95Val,ENST00000360162,NM_019903.3;ADD3,missense_variant,p.Ala95Val,ENST00000356080,NM_016824.3;ADD3,non_coding_transcript_exon_variant,,ENST00000497125,;ADD3,non_coding_transcript_exon_variant,,ENST00000496517,;ADD3,non_coding_transcript_exon_variant,,ENST00000487085,;ADD3,non_coding_transcript_exon_variant,,ENST00000468251,;ADD3,non_coding_transcript_exon_variant,,ENST00000468345,;ADD3,non_coding_transcript_exon_variant,,ENST00000495661,;ADD3,non_coding_transcript_exon_variant,,ENST00000473669,;ADD3,non_coding_transcript_exon_variant,,ENST00000475954,;ADD3,non_coding_transcript_exon_variant,,ENST00000484622,;ADD3,intron_variant,,ENST00000486014,;							MODERATE	284/2121	A95V	ADDG_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000348381		CCDS7561.1			1	
ALMS1	0	LGGM	GRCh37	2	73676282	73676282	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	46	11	.	.	ENST00000264448.6:c.2625C>T	p.Pro875=	p.P875=	ENST00000264448	NM_015120.4	875	ccC/ccT	0	1	1	UPI0000212786	0		ENST00000264448		ENSG00000116127	428		57			HGNC	p.P875P		ALMS1		SNV			1				ENST00000377715	protein_coding					P		T		2736/12922				A6NMY3_HUMAN			YES	ALMS1,synonymous_variant,p.=,ENST00000264448,NM_015120.4;ALMS1,synonymous_variant,p.=,ENST00000409009,;ALMS1,synonymous_variant,p.=,ENST00000377715,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;							LOW	2625/12504		ALMS1_HUMAN			Transcript			.	ENSP00000264448		CCDS42697.1			1	
ATP13A5	0	LGGM	GRCh37	3	193039568	193039568	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	33	11	.	.	ENST00000342358.4:c.1817G>A	p.Arg606Lys	p.R606K	ENST00000342358	NM_198505.2	606	aGg/aAg	0	1	1	UPI000050EC1D	0	getma.org/pdb.php?prot=AT135_HUMAN&from=483&to=859&var=R606K	ENST00000342358		ENSG00000187527	31789		44	3.52		HGNC	p.R606K		ATP13A5		SNV							ENST00000342358	protein_coding	getma.org/?cm=var&var=hg19,3,193039568,C,T&fts=all		Superfamily_domains:SSF81660,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01657,Gene3D:3.40.1110.10,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093		R/K		T	high	1935/4027		getma.org/?cm=msa&ty=f&p=AT135_HUMAN&rb=483&re=859&var=R606K	deleterious(0)				YES	ATP13A5,missense_variant,p.Arg606Lys,ENST00000342358,NM_198505.2;ATP13A5,intron_variant,,ENST00000488957,;							MODERATE	1817/3657	R606K	AT135_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000341942		CCDS33914.1			1	
MCM5	0	LGGM	GRCh37	22	35813752	35813752	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	21	12	.	.	ENST00000216122.4:c.1606G>T	p.Val536Phe	p.V536F	ENST00000216122	NM_006739.3	536	Gtc/Ttc	0	1	1	UPI000000D8F4	0	getma.org/pdb.php?prot=MCM5_HUMAN&from=318&to=649&var=V536F	ENST00000216122		ENSG00000100297	6948		33	4.015		HGNC	p.V536F		MCM5		SNV							ENST00000216122	protein_coding	getma.org/?cm=var&var=hg19,22,35813752,G,T&fts=all		PROSITE_profiles:PS50051,hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540		V/F		T	high	1760/3534		getma.org/?cm=msa&ty=f&p=MCM5_HUMAN&rb=318&re=649&var=V536F	deleterious(0)	B1AHB2_HUMAN,B1AHB0_HUMAN			YES	MCM5,missense_variant,p.Val536Phe,ENST00000216122,NM_006739.3;MCM5,missense_variant,p.Val493Phe,ENST00000382011,;MCM5,downstream_gene_variant,,ENST00000465557,;MCM5,downstream_gene_variant,,ENST00000464908,;MCM5,downstream_gene_variant,,ENST00000493569,;MCM5,non_coding_transcript_exon_variant,,ENST00000493076,;							MODERATE	1606/2205	V536F	MCM5_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000216122		CCDS13915.1			1	
CDK18	0	LGGM	GRCh37	1	205495950	205495950	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	45	12	.	.	ENST00000506784.1:c.804C>T	p.Ser268=	p.S268=	ENST00000506784		268	agC/agT	0	1	1	UPI000035030C	0		ENST00000506784		ENSG00000117266	8751		57			HGNC	p.S268S		CDK18		SNV							ENST00000506784	protein_coding			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24056:SF52,hmmpanther:PTHR24056,PROSITE_profiles:PS50011		S		T		1024/2143				Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN			YES	CDK18,synonymous_variant,p.=,ENST00000360066,NM_212503.2,NM_002596.3,NM_212502.2;CDK18,synonymous_variant,p.=,ENST00000506784,;CDK18,synonymous_variant,p.=,ENST00000429964,;CDK18,synonymous_variant,p.=,ENST00000419301,;CDK18,synonymous_variant,p.=,ENST00000478560,;CDK18,downstream_gene_variant,,ENST00000443813,;CDK18,downstream_gene_variant,,ENST00000506215,;CDK18,non_coding_transcript_exon_variant,,ENST00000509056,;CDK18,non_coding_transcript_exon_variant,,ENST00000505932,;CDK18,upstream_gene_variant,,ENST00000484080,;CDK18,upstream_gene_variant,,ENST00000459862,;CDK18,upstream_gene_variant,,ENST00000512008,;CDK18,upstream_gene_variant,,ENST00000506489,;CDK18,upstream_gene_variant,,ENST00000515514,;CDK18,upstream_gene_variant,,ENST00000468954,;CDK18,downstream_gene_variant,,ENST00000507240,;CDK18,downstream_gene_variant,,ENST00000507067,;CDK18,3_prime_UTR_variant,,ENST00000515494,;CDK18,3_prime_UTR_variant,,ENST00000504648,;CDK18,3_prime_UTR_variant,,ENST00000512922,;CDK18,non_coding_transcript_exon_variant,,ENST00000476153,;CDK18,upstream_gene_variant,,ENST00000489617,;CDK18,downstream_gene_variant,,ENST00000462976,;CDK18,upstream_gene_variant,,ENST00000504162,;							LOW	804/1515		CDK18_HUMAN			Transcript			.	ENSP00000423665		CCDS1454.1			1	
TMEM176A	0	LGGM	GRCh37	7	150500909	150500909	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	13	13	.	.	ENST00000484928.1:c.544G>C	p.Asp182His	p.D182H	ENST00000484928		182	Gac/Cac	0	1		UPI000006E9AA	0	NA	ENST00000004103		ENSG00000002933	24930		26	0.895		HGNC	p.D182H		TMEM176A		SNV							ENST00000004103	protein_coding	getma.org/?cm=var&var=hg19,7,150500909,G,C&fts=all		hmmpanther:PTHR15756:SF5,hmmpanther:PTHR15756,Pfam_domain:PF04103		D/H		C	low	845/1261		getma.org/?cm=msa&ty=f&p=T176A_HUMAN&rb=56&re=214&var=D182H	tolerated(0.07)	C9JRT9_HUMAN,C9JJ63_HUMAN				TMEM176A,missense_variant,p.Asp182His,ENST00000484928,;TMEM176A,missense_variant,p.Asp182His,ENST00000004103,NM_018487.2;TMEM176A,missense_variant,p.Asp134His,ENST00000475536,;TMEM176A,missense_variant,p.Asp123His,ENST00000461345,;TMEM176B,upstream_gene_variant,,ENST00000447204,NM_014020.3;TMEM176B,upstream_gene_variant,,ENST00000434545,NM_001101311.1,NM_001101312.1;TMEM176B,upstream_gene_variant,,ENST00000492607,;TMEM176B,upstream_gene_variant,,ENST00000326442,;TMEM176B,upstream_gene_variant,,ENST00000450753,NM_001101314.1;TMEM176A,downstream_gene_variant,,ENST00000468689,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000462826,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000494349,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000475007,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000481305,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000474166,;TMEM176A,downstream_gene_variant,,ENST00000475710,;							MODERATE	544/708	D182H	T176A_HUMAN			Transcript		benign(0.027)	.	ENSP00000004103		CCDS5909.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H060859	H060859N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	15	15	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		30			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
COL28A1	0	LGGM	GRCh37	7	7413098	7413098	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	69	14	.	.	ENST00000399429.3:c.2439C>G	p.Asn813Lys	p.N813K	ENST00000399429	NM_001037763.2	813	aaC/aaG	0	1	1	UPI000155D64E	0	getma.org/pdb.php?prot=COSA1_HUMAN&from=798&to=980&var=N813K	ENST00000399429		ENSG00000215018	22442		83	3.69		HGNC	p.N813K		COL28A1		SNV							ENST00000399429	protein_coding	getma.org/?cm=var&var=hg19,7,7413098,G,C&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453		N/K		C	high	2580/4277		getma.org/?cm=msa&ty=f&p=COSA1_HUMAN&rb=798&re=980&var=N813K	deleterious(0)	H7C3P2_HUMAN,H7BZU0_HUMAN			YES	COL28A1,missense_variant,p.Asn813Lys,ENST00000399429,NM_001037763.2;COL28A1,upstream_gene_variant,,ENST00000430711,;							MODERATE	2439/3378	N813K	COSA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000382356		CCDS43553.1			1	
DCST2	0	LGGM	GRCh37	1	154995608	154995608	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	136	14	.	.	ENST00000368424.3:c.2090C>T	p.Ser697Phe	p.S697F	ENST00000368424	NM_144622.2	697	tCc/tTc	0	1	1	UPI0000D959B3	0	NA	ENST00000368424		ENSG00000163354	26562		150	0		HGNC	p.S697F		DCST2		SNV							ENST00000368424	protein_coding	getma.org/?cm=var&var=hg19,1,154995608,G,A&fts=all		Low_complexity_(Seg):seg		S/F		A	neutral	2149/2392		getma.org/?cm=msa&ty=f&p=DCST2_HUMAN&rb=545&re=744&var=S697F	deleterious(0.01)	Q8N1J0_HUMAN			YES	DCST2,missense_variant,p.Ser697Phe,ENST00000368424,NM_144622.2;ZBTB7B,downstream_gene_variant,,ENST00000368426,NM_001256455.1;DCST2,downstream_gene_variant,,ENST00000295536,;DCST2,3_prime_UTR_variant,,ENST00000485982,;DCST2,3_prime_UTR_variant,,ENST00000467991,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000498036,;							MODERATE	2090/2322	S697F	DCST2_HUMAN			Transcript		benign(0.406)	.	ENSP00000357409		CCDS1082.2			1	
SPTA1	0	LGGM	GRCh37	1	158639334	158639334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	139	14	.	.	ENST00000368147.4:c.1697C>T	p.Ala566Val	p.A566V	ENST00000368147	NM_003126.2	566	gCc/gTc	0	1	1	UPI0000458906	0	getma.org/pdb.php?prot=SPTA1_HUMAN&from=476&to=580&var=A566V	ENST00000368147		ENSG00000163554	11272		153	1.93		HGNC	p.A566V		SPTA1		SNV			1				ENST00000368147	protein_coding	getma.org/?cm=var&var=hg19,1,158639334,G,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966		A/V		A	medium	1878/7999		getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=476&re=580&var=A566V	tolerated(0.1)	O60686_HUMAN			YES	SPTA1,missense_variant,p.Ala566Val,ENST00000368147,NM_003126.2;							MODERATE	1697/7260	A566V	SPTA1_HUMAN			Transcript		benign(0.12)	.	ENSP00000357129		CCDS41423.1			1	
RNF144B	0	LGGM	GRCh37	6	18457562	18457562	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	160	15	.	.	ENST00000259939.3:c.508C>T	p.Gln170Ter	p.Q170*	ENST00000259939	NM_182757.3	170	Cag/Tag	0	1	1	UPI00001B2DA3	0	NA	ENST00000259939		ENSG00000137393	21578		175	0		HGNC	p.Q81X		RNF144B		SNV							ENST00000429054	protein_coding	getma.org/?cm=var&var=hg19,6,18457562,C,T&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF104		Q/*		T	NA	825/5036		NA					YES	RNF144B,stop_gained,p.Gln170Ter,ENST00000259939,NM_182757.3;RNF144B,stop_gained,p.Gln81Ter,ENST00000429054,;							HIGH	508/912	Q170*	R144B_HUMAN			Transcript			.	ENSP00000259939		CCDS34345.1			1	
LOXHD1	0	LGGM	GRCh37	18	44171951	44171951	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060859	H060859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	20	15	.	.	ENST00000398722.4:c.765T>C	p.Asn255=	p.N255=	ENST00000398722		255	aaT/aaC	0	1	1	UPI0001A595CE	0		ENST00000536736		ENSG00000167210	26521		35			HGNC	p.N533N		LOXHD1		SNV			1				ENST00000441551	protein_coding			PROSITE_profiles:PS50095,hmmpanther:PTHR10877:SF110,hmmpanther:PTHR10877,Gene3D:2.60.60.20,SMART_domains:SM00308,Superfamily_domains:SSF49723		N		G		1599/6848				J3KRE7_HUMAN,F5GZB4_HUMAN,C9J269_HUMAN,C9IYQ1_HUMAN				LOXHD1,synonymous_variant,p.=,ENST00000536736,NM_144612.6;LOXHD1,synonymous_variant,p.=,ENST00000441551,;LOXHD1,synonymous_variant,p.=,ENST00000398722,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;							LOW	1599/6636					Transcript			.	ENSP00000444586					1	
UBBP4	0	LGGM	GRCh37	17	21731140	21731140	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	81	15	.	.	ENST00000578713.1:c.442C>T	p.Arg148Cys	p.R148C	ENST00000578713		148	Cgt/Tgt	0	1	1	UPI000268AF41	0		ENST00000578713		ENSG00000263563	12467		96			HGNC	p.R148C	rs746091981	UBBP4	6.06E-05	SNV							ENST00000584755	protein_coding			PROSITE_profiles:PS50053,hmmpanther:PTHR10666,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236,Prints_domain:PR00348		R/C		T		446/821			deleterious(0)	J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN			YES	UBBP4,missense_variant,p.Arg148Cys,ENST00000584755,;UBBP4,missense_variant,p.Arg148Cys,ENST00000578713,;UBBP4,3_prime_UTR_variant,,ENST00000583708,;UBBP4,3_prime_UTR_variant,,ENST00000584398,;UBBP4,intron_variant,,ENST00000581775,;UBBP4,downstream_gene_variant,,ENST00000581769,;							MODERATE	442/690					Transcript		probably_damaging(0.992)	.	ENSP00000464265	8.24E-06				1	
DCST2	0	LGGM	GRCh37	1	154995619	154995619	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	129	16	.	.	ENST00000368424.3:c.2079C>T	p.Leu693=	p.L693=	ENST00000368424	NM_144622.2	693	ctC/ctT	0	1	1	UPI0000D959B3	0		ENST00000368424		ENSG00000163354	26562		145			HGNC	p.L693L		DCST2		SNV							ENST00000368424	protein_coding			Low_complexity_(Seg):seg		L		A		2138/2392				Q8N1J0_HUMAN			YES	DCST2,synonymous_variant,p.=,ENST00000368424,NM_144622.2;ZBTB7B,downstream_gene_variant,,ENST00000368426,NM_001256455.1;DCST2,downstream_gene_variant,,ENST00000295536,;DCST2,3_prime_UTR_variant,,ENST00000485982,;DCST2,3_prime_UTR_variant,,ENST00000467991,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST2,downstream_gene_variant,,ENST00000498036,;							LOW	2079/2322		DCST2_HUMAN			Transcript			.	ENSP00000357409		CCDS1082.2			1	
ABCC2	0	LGGM	GRCh37	10	101560229	101560229	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	68	16	.	.	ENST00000370449.4:c.1118T>C	p.Ile373Thr	p.I373T	ENST00000370449	NM_000392.3	373	aTt/aCt	0	1	1	UPI000013D6CA	0	NA	ENST00000370449		ENSG00000023839	53		84	1.595		HGNC	p.I373T		ABCC2		SNV			1				ENST00000370449	protein_coding	getma.org/?cm=var&var=hg19,10,101560229,T,C&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR00957,Transmembrane_helices:TMhelix		I/T		C	low	1231/5312		getma.org/?cm=msa&ty=f&p=MRP2_HUMAN&rb=322&re=593&var=I373T	tolerated(0.09)				YES	ABCC2,missense_variant,p.Ile373Thr,ENST00000370449,NM_000392.3;ABCC2,downstream_gene_variant,,ENST00000370434,;							MODERATE	1118/4638	I373T	MRP2_HUMAN			Transcript		benign(0.41)	.	ENSP00000359478		CCDS7484.1			1	
CNTN6	0	LGGM	GRCh37	3	1269614	1269614	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	41	16	.	.	ENST00000446702.2:c.295C>T	p.Gln99Ter	p.Q99*	ENST00000446702		99	Cag/Tag	0	1		UPI0000072430	0	NA	ENST00000350110		ENSG00000134115	2176		57	0		HGNC	p.Q99X		CNTN6		SNV							ENST00000350110	protein_coding	getma.org/?cm=var&var=hg19,3,1269614,C,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50835		Q/*		T	NA	846/3814		NA		F5H752_HUMAN				CNTN6,stop_gained,p.Gln99Ter,ENST00000446702,;CNTN6,stop_gained,p.Gln99Ter,ENST00000350110,NM_014461.2;CNTN6,stop_gained,p.Gln27Ter,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,;							HIGH	295/3087	Q99*	CNTN6_HUMAN			Transcript			.	ENSP00000341882		CCDS2557.1			1	
TMEM248	0	LGGM	GRCh37	7	66410186	66410186	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	31	16	.	.	ENST00000341567.4:c.383G>A	p.Gly128Glu	p.G128E	ENST00000341567	NM_017994.4	128	gGg/gAg	0	1	1	UPI0000073CC6	0	NA	ENST00000341567		ENSG00000106609	25476		47	1.04		HGNC	p.G128E		TMEM248		SNV							ENST00000424964	protein_coding	getma.org/?cm=var&var=hg19,7,66410186,G,A&fts=all		Pfam_domain:PF14940,hmmpanther:PTHR16002,hmmpanther:PTHR16002:SF3		G/E		A	low	638/4229		getma.org/?cm=msa&ty=f&p=CG042_HUMAN&rb=1&re=307&var=G128E	deleterious(0.03)	U3KQ21_HUMAN,F8WE75_HUMAN,C9JKP5_HUMAN,C9J3C8_HUMAN			YES	TMEM248,missense_variant,p.Gly128Glu,ENST00000341567,NM_017994.4;TMEM248,missense_variant,p.Gly128Glu,ENST00000424964,;TMEM248,downstream_gene_variant,,ENST00000607045,;TMEM248,downstream_gene_variant,,ENST00000413593,;TMEM248,downstream_gene_variant,,ENST00000418375,;TMEM248,missense_variant,p.Gly128Glu,ENST00000433271,;TMEM248,non_coding_transcript_exon_variant,,ENST00000484751,;							MODERATE	383/945	G128E	TM248_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000340668		CCDS5536.1			1	
PDE4D	0	LGGM	GRCh37	5	58270514	58270514	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	141	17	.	.	ENST00000340635.6:c.2407G>C	p.Asp803His	p.D803H	ENST00000340635	NM_001104631.1	803	Gat/Cat	0	1	1	UPI0000050EB1	0	NA	ENST00000340635		ENSG00000113448	8783		158	0		HGNC	p.D667H		PDE4D		SNV			1				ENST00000360047	protein_coding	getma.org/?cm=var&var=hg19,5,58270514,C,G&fts=all				D/H		G	neutral	2583/8232		getma.org/?cm=msa&ty=f&p=PDE4D_HUMAN&rb=706&re=809&var=D803H	deleterious_low_confidence(0.01)	D6RHE0_HUMAN			YES	PDE4D,missense_variant,p.Asp803His,ENST00000340635,NM_001104631.1;PDE4D,missense_variant,p.Asp739His,ENST00000507116,NM_001197218.1;PDE4D,missense_variant,p.Asp667His,ENST00000360047,NM_006203.4;PDE4D,missense_variant,p.Asp501His,ENST00000358923,NM_001197221.1,NM_001197222.1;PDE4D,missense_variant,p.Asp673His,ENST00000503258,NM_001197220.1;PDE4D,missense_variant,p.Asp512His,ENST00000317118,NM_001197223.1;PDE4D,missense_variant,p.Asp742His,ENST00000502484,NM_001165899.1;PDE4D,missense_variant,p.Asp681His,ENST00000405755,NM_001197219.1;PDE4D,missense_variant,p.Asp742His,ENST00000546160,;PDE4D,downstream_gene_variant,,ENST00000505453,;PDE4D,non_coding_transcript_exon_variant,,ENST00000515011,;PDE4D,downstream_gene_variant,,ENST00000309641,;							MODERATE	2407/2430	D803H	PDE4D_HUMAN			Transcript		benign(0.432)	.	ENSP00000345502		CCDS47213.1			1	
FLG	0	LGGM	GRCh37	1	152278947	152278947	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	429	18	.	.	ENST00000368799.1:c.8415G>A	p.Ser2805=	p.S2805=	ENST00000368799	NM_002016.1	2805	tcG/tcA	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748	8.64E-05	447			HGNC	p.S2805S	rs367828510	FLG	0.000363	SNV	T:0.0005		1	9.96E-05			ENST00000368799	protein_coding			Low_complexity_(Seg):seg		S	T:0.0002	T		8451/12747	0.00018			Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							LOW	8415/12186		FILA_HUMAN	0.000454		Transcript			common_variant	ENSP00000357789	0.000198	CCDS30860.1			1	
DPP10	0	LGGM	GRCh37	2	116572408	116572408	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	32	18	.	.	ENST00000393147.2:c.1752C>G	p.Phe584Leu	p.F584L	ENST00000393147	NM_001178034.1	584	ttC/ttG	0	1		UPI00001AEF55	0	getma.org/pdb.php?prot=DPP10_HUMAN&from=580&to=784&var=F580L	ENST00000410059		ENSG00000175497	20823		50	3.52		HGNC	p.F584L		DPP10		SNV			1				ENST00000393147	protein_coding	getma.org/?cm=var&var=hg19,2,116572408,C,G&fts=all		hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		F/L		G	high	2220/6278		getma.org/?cm=msa&ty=f&p=DPP10_HUMAN&rb=580&re=784&var=F580L	deleterious(0)	Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN				DPP10,missense_variant,p.Phe580Leu,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,missense_variant,p.Phe530Leu,ENST00000409163,NM_001178036.1;DPP10,missense_variant,p.Phe573Leu,ENST00000310323,NM_001004360.3;DPP10,missense_variant,p.Phe584Leu,ENST00000393147,NM_001178034.1;DPP10,non_coding_transcript_exon_variant,,ENST00000473362,;							MODERATE	1740/2391	F580L	DPP10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386565		CCDS46400.1			1	
HARBI1	0	LGGM	GRCh37	11	46637286	46637286	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060859	H060859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	109	19	.	.	ENST00000326737.3:c.502C>G	p.Arg168Gly	p.R168G	ENST00000326737	NM_173811.3	168	Cga/Gga	0	1	1	UPI000004D30B	0	NA	ENST00000326737		ENSG00000180423	26522		128	2.345		HGNC	p.R168G		HARBI1		SNV							ENST00000326737	protein_coding	getma.org/?cm=var&var=hg19,11,46637286,G,C&fts=all		Pfam_domain:PF13359,Prints_domain:PR02086,hmmpanther:PTHR22930,hmmpanther:PTHR22930:SF8		R/G		C	medium	750/1967		getma.org/?cm=msa&ty=f&p=HARB1_HUMAN&rb=148&re=300&var=R168G	deleterious(0.02)	E9PQI1_HUMAN,E9PK24_HUMAN			YES	HARBI1,missense_variant,p.Arg168Gly,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,;							MODERATE	502/1050	R168G	HARB1_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000317743		CCDS7920.1			1	
AHNAK	0	LGGM	GRCh37	11	62297634	62297634	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060859	H060859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	72	20	.	.	ENST00000378024.4:c.4255G>A	p.Asp1419Asn	p.D1419N	ENST00000378024	NM_001620.2	1419	Gat/Aat	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		92	2.78		HGNC	p.D1419N		AHNAK		SNV							ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62297634,C,T&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		D/N		T	medium	4530/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=1401&re=1600&var=D1419N		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Asp1419Asn,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,;							MODERATE	4255/17673	D1419N	AHNK_HUMAN			Transcript		possibly_damaging(0.664)	.	ENSP00000367263		CCDS31584.1			1	
WDR47	0	LGGM	GRCh37	1	109553964	109553964	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	111	42	.	.	ENST00000400794.3:c.725A>G	p.Asn242Ser	p.N242S	ENST00000400794		242	aAt/aGt	0	1		UPI0000139DD3	0	NA	ENST00000369962		ENSG00000085433	29141		153	0.62		HGNC	p.N207S		WDR47		SNV							ENST00000357672	protein_coding	getma.org/?cm=var&var=hg19,1,109553964,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19863		N/S		C	neutral	927/4199		getma.org/?cm=msa&ty=f&p=WDR47_HUMAN&rb=1&re=388&var=N235S	tolerated(0.46)	E9PR96_HUMAN,E9PNF6_HUMAN,E9PN15_HUMAN,E9PKZ6_HUMAN,B4DHA1_HUMAN				WDR47,missense_variant,p.Asn207Ser,ENST00000357672,;WDR47,missense_variant,p.Asn235Ser,ENST00000369965,NM_001142551.1,NM_014969.5,NM_001142550.1;WDR47,missense_variant,p.Asn235Ser,ENST00000369962,;WDR47,missense_variant,p.Asn242Ser,ENST00000400794,;WDR47,missense_variant,p.Asn207Ser,ENST00000361054,;WDR47,downstream_gene_variant,,ENST00000529074,;WDR47,downstream_gene_variant,,ENST00000528747,;WDR47,downstream_gene_variant,,ENST00000530772,;WDR47,downstream_gene_variant,,ENST00000531337,;							MODERATE	704/2760	N235S	WDR47_HUMAN			Transcript		benign(0.13)	.	ENSP00000358979		CCDS44187.1			1	
STK3	0	LGGM	GRCh37	8	99719420	99719420	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H060859	H060859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060859N.bam, H060859T.bam	Illumina HiSeq	18	43	.	.	ENST00000523601.1:c.555A>T	p.Glu185Asp	p.E185D	ENST00000523601	NM_001256312.1	185	gaA/gaT	0	1		UPI000006FDDC	0	getma.org/pdb.php?prot=STK3_HUMAN&from=27&to=278&var=E157D	ENST00000419617		ENSG00000104375	11406		61	-1.25		HGNC	p.E185D		STK3		SNV							ENST00000523601	protein_coding	getma.org/?cm=var&var=hg19,8,99719420,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF247,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/D		A	neutral	612/2820		getma.org/?cm=msa&ty=f&p=STK3_HUMAN&rb=27&re=278&var=E157D	tolerated(0.11)					STK3,missense_variant,p.Glu185Asp,ENST00000523601,NM_001256312.1;STK3,missense_variant,p.Glu157Asp,ENST00000419617,NM_006281.3;STK3,intron_variant,,ENST00000518165,;STK3,3_prime_UTR_variant,,ENST00000424861,;STK3,intron_variant,,ENST00000521649,;							MODERATE	471/1476	E157D	STK3_HUMAN			Transcript		benign(0.043)	.	ENSP00000390500		CCDS47900.1			1	
REXO1L1P	0	LGGM	GRCh37	8	86573797	86573797	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	8	2	.	.	ENST00000379010.2:c.1930A>G	p.Ser644Gly	p.S644G	ENST00000379010	NM_172239.4	644	Agc/Ggc	0	1	1	UPI000057A11F	0	getma.org/pdb.php?prot=GOR_HUMAN&from=502&to=650&var=S644G	ENST00000379010		ENSG00000205176	24660		10	0.895		HGNC	p.S644G		REXO1L1P		SNV							ENST00000379010	protein_coding	getma.org/?cm=var&var=hg19,8,86573797,T,C&fts=all		Gene3D:3.30.420.10,Pfam_domain:PF00929,hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF22,SMART_domains:SM00479,Superfamily_domains:SSF53098		S/G		C	low	1930/7032		getma.org/?cm=msa&ty=f&p=GOR_HUMAN&rb=502&re=650&var=S644G	tolerated(0.29)				YES	REXO1L1P,missense_variant,p.Ser644Gly,ENST00000379010,NM_172239.4;							MODERATE	1930/2028	S644G	GOR_HUMAN			Transcript		benign(0.008)	.	ENSP00000368295					1	
GMPPB	0	LGGM	GRCh37	3	49759411	49759411	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	9	2	.	.	ENST00000308375.6:c.938G>C	p.Arg313Pro	p.R313P	ENST00000308375		313	cGc/cCc	0	1		UPI000013ED31	0	NA	ENST00000308388		ENSG00000173540	22932		11	1.57		HGNC	p.R313P		GMPPB		SNV			1				ENST00000308388	protein_coding	getma.org/?cm=var&var=hg19,3,49759411,C,G&fts=all		Gene3D:2.160.10.10,hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF75		R/P		G	low	1161/1582		getma.org/?cm=msa&ty=f&p=GMPPB_HUMAN&rb=295&re=360&var=R313P	tolerated(0.09)					GMPPB,missense_variant,p.Arg313Pro,ENST00000480687,;GMPPB,missense_variant,p.Arg313Pro,ENST00000308375,;GMPPB,missense_variant,p.Arg313Pro,ENST00000308388,NM_013334.3,NM_021971.2;AMIGO3,5_prime_UTR_variant,,ENST00000535833,;IP6K1,downstream_gene_variant,,ENST00000321599,NM_153273.3,NM_001242829.1;RNF123,downstream_gene_variant,,ENST00000327697,NM_022064.3;IP6K1,downstream_gene_variant,,ENST00000395238,NM_001006115.2;AMIGO3,upstream_gene_variant,,ENST00000320431,NM_198722.2;IP6K1,downstream_gene_variant,,ENST00000468463,;RNF123,downstream_gene_variant,,ENST00000433785,;RNF123,downstream_gene_variant,,ENST00000497099,;RNF123,downstream_gene_variant,,ENST00000487805,;RNF123,downstream_gene_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000457726,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000498376,;GMPPB,downstream_gene_variant,,ENST00000495627,;							MODERATE	938/1083	R313P	GMPPB_HUMAN			Transcript		benign(0.145)	.	ENSP00000311130		CCDS2803.1			1	
MTFMT	0	LGGM	GRCh37	15	65295595	65295595	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	33	3	.	.	ENST00000220058.4:c.976-1G>T		p.X326_splice	ENST00000220058	NM_139242.3			0	1	1	UPI000003B018	0		ENST00000220058		ENSG00000103707	29666		36			HGNC	-		MTFMT		SNV			1				ENST00000220058	protein_coding							A		-/1739				H3BTN9_HUMAN			YES	MTFMT,splice_acceptor_variant,,ENST00000220058,NM_139242.3;MTFMT,splice_acceptor_variant,,ENST00000558460,;MTFMT,splice_acceptor_variant,,ENST00000560717,;							HIGH	976/1170		FMT_HUMAN			Transcript			.	ENSP00000220058		CCDS45280.1			1	
IGSF3	0	LGGM	GRCh37	1	117159065	117159065	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	10	3	.	.	ENST00000369483.1:c.58C>G	p.Gln20Glu	p.Q20E	ENST00000369483	NM_001542.3	20	Cag/Gag	0	1		UPI00003FEC88	0	NA	ENST00000369486		ENSG00000143061	5950		13	2.77		HGNC	p.Q20E	rs568064349	IGSF3		SNV			1	0.000117			ENST00000369483	protein_coding	getma.org/?cm=var&var=hg19,1,117159065,G,C&fts=all	C:0.0008	PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21		Q/E		C	medium	824/7254		getma.org/?cm=msa&ty=f&p=IGSF3_HUMAN&rb=20&re=141&var=Q20E	deleterious(0)		C:0	C:0		IGSF3,missense_variant,p.Gln20Glu,ENST00000369486,NM_001007237.2;IGSF3,missense_variant,p.Gln20Glu,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Gln20Glu,ENST00000318837,;IGSF3,5_prime_UTR_variant,,ENST00000481589,;		C:0.0002					MODERATE	58/3585	Q20E	IGSF3_HUMAN		C:0	Transcript		possibly_damaging(0.848)	.	ENSP00000358498	8.34E-06	CCDS30813.1		C:0	1	
TWISTNB	0	LGGM	GRCh37	7	19744491	19744491	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	38	3	.	.	ENST00000222567.5:c.307G>T	p.Gly103Ter	p.G103*	ENST00000222567	NM_001002926.1	103	Gga/Tga	0	1	1	UPI000006CEF4	0	NA	ENST00000222567		ENSG00000105849	18027		41	0		HGNC	p.G103X		TWISTNB		SNV							ENST00000222567	protein_coding	getma.org/?cm=var&var=hg19,7,19744491,C,A&fts=all		hmmpanther:PTHR12709,hmmpanther:PTHR12709:SF5,Pfam_domain:PF03876		G/*		A	NA	378/3942		NA					YES	TWISTNB,stop_gained,p.Gly103Ter,ENST00000222567,NM_001002926.1;MIR3146,downstream_gene_variant,,ENST00000580367,;TWISTNB,upstream_gene_variant,,ENST00000462263,;							HIGH	307/1017	G103*	RPA43_HUMAN			Transcript			.	ENSP00000222567		CCDS34606.1			1	
CDH20	0	LGGM	GRCh37	18	59195220	59195220	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	9	3	.	.	ENST00000262717.4:c.1038G>T	p.Lys346Asn	p.K346N	ENST00000262717		346	aaG/aaT	0	1	1	UPI000013D30D	0	getma.org/pdb.php?prot=CAD20_HUMAN&from=279&to=381&var=K346N	ENST00000262717		ENSG00000101542	1760		12	2.01		HGNC	p.K346N		CDH20		SNV							ENST00000538374	protein_coding	getma.org/?cm=var&var=hg19,18,59195220,G,T&fts=all		Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		K/N		T	medium	1436/3882		getma.org/?cm=msa&ty=f&p=CAD20_HUMAN&rb=279&re=381&var=K346N	deleterious(0)	Q8N9J3_HUMAN,K7ESP2_HUMAN			YES	CDH20,missense_variant,p.Lys346Asn,ENST00000262717,;CDH20,missense_variant,p.Lys346Asn,ENST00000536675,NM_031891.2;CDH20,missense_variant,p.Lys346Asn,ENST00000538374,;							MODERATE	1038/2406	K346N	CAD20_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000262717		CCDS11977.1			1	
TM9SF4	0	LGGM	GRCh37	20	30730889	30730889	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	24	3	.	.	ENST00000398022.2:c.633C>A	p.Pro211=	p.P211=	ENST00000398022	NM_014742.3	211	ccC/ccA	0	1	1	UPI0000206163	0		ENST00000398022		ENSG00000101337	30797		27			HGNC	p.P211P		TM9SF4		SNV							ENST00000398022	protein_coding			hmmpanther:PTHR10766,hmmpanther:PTHR10766:SF34,Pfam_domain:PF02990		P		A		868/3978				B4DH88_HUMAN			YES	TM9SF4,synonymous_variant,p.=,ENST00000217315,;TM9SF4,synonymous_variant,p.=,ENST00000398022,NM_014742.3;TM9SF4,downstream_gene_variant,,ENST00000442842,;TM9SF4,downstream_gene_variant,,ENST00000417389,;TM9SF4,downstream_gene_variant,,ENST00000450829,;							LOW	633/1929		TM9S4_HUMAN			Transcript			.	ENSP00000381104		CCDS13196.2			1	
ATP13A2	0	LGGM	GRCh37	1	17322601	17322601	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	30	3	.	.	ENST00000326735.8:c.1412C>A	p.Pro471His	p.P471H	ENST00000326735		471	cCt/cAt	0	1	1	UPI0000049724	0	getma.org/pdb.php?prot=AT132_HUMAN&from=262&to=501&var=P471H	ENST00000326735		ENSG00000159363	30213		33	3.97		HGNC	p.P30H		ATP13A2		SNV			1				ENST00000503552	protein_coding	getma.org/?cm=var&var=hg19,1,17322601,G,T&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657,Transmembrane_helices:TMhelix		P/H		T	high	1446/3840		getma.org/?cm=msa&ty=f&p=AT132_HUMAN&rb=262&re=501&var=P471H	deleterious(0)	Q8N4D4_HUMAN			YES	ATP13A2,missense_variant,p.Pro466His,ENST00000452699,NM_001141973.1,NM_022089.2;ATP13A2,missense_variant,p.Pro471His,ENST00000326735,;ATP13A2,missense_variant,p.Pro466His,ENST00000341676,NM_001141974.1;ATP13A2,missense_variant,p.Pro30His,ENST00000503552,;ATP13A2,missense_variant,p.Pro185His,ENST00000506174,;ATP13A2,downstream_gene_variant,,ENST00000510069,;ATP13A2,downstream_gene_variant,,ENST00000511957,;ATP13A2,downstream_gene_variant,,ENST00000508222,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000502860,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000463860,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000509392,;ATP13A2,upstream_gene_variant,,ENST00000466561,;							MODERATE	1412/3543	P471H	AT132_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000327214		CCDS175.1			1	
DSG3	0	LGGM	GRCh37	18	29046539	29046539	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	32	3	.	.	ENST00000257189.4:c.1458C>A	p.Pro486=	p.P486=	ENST00000257189	NM_001944.2	486	ccC/ccA	0	1	1	UPI000013CF4B	0		ENST00000257189		ENSG00000134757	3050		35			HGNC	p.P486P		DSG3		SNV							ENST00000257189	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR01818,Prints_domain:PR00205		P		A		1541/5525							YES	DSG3,synonymous_variant,p.=,ENST00000257189,NM_001944.2;							LOW	1458/3000		DSG3_HUMAN			Transcript			.	ENSP00000257189		CCDS11898.1			1	
MAK	0	LGGM	GRCh37	6	10830804	10830804	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	38	3	.	.	ENST00000313243.2:c.78C>A	p.Ser26=	p.S26=	ENST00000313243		26	tcC/tcA	0	1	1	UPI0000001BCD	0		ENST00000313243		ENSG00000111837	6816		41			HGNC	p.S26S	rs542075413	MAK		SNV			1				ENST00000538030	protein_coding		A:0	PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF113,hmmpanther:PTHR24055,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		S		T		461/3984					A:0.0014	A:0	YES	MAK,synonymous_variant,p.=,ENST00000313243,;MAK,synonymous_variant,p.=,ENST00000474039,NM_001242957.1,NM_001242385.1,NM_005906.4;MAK,synonymous_variant,p.=,ENST00000354489,;MAK,synonymous_variant,p.=,ENST00000538030,;MAK,synonymous_variant,p.=,ENST00000536370,;SYCP2L,intron_variant,,ENST00000543878,;TMEM14B,downstream_gene_variant,,ENST00000489137,;TMEM14B,intron_variant,,ENST00000463448,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,downstream_gene_variant,,ENST00000473166,;TMEM14B,downstream_gene_variant,,ENST00000463100,;TMEM14B,downstream_gene_variant,,ENST00000467229,;	0.000116	A:0.0002					LOW	78/1872		MAK_HUMAN		A:0	Transcript			.	ENSP00000313021	8.24E-06	CCDS4516.1		A:0	1	
TRPM7	0	LGGM	GRCh37	15	50906395	50906395	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	23	3	.	.	ENST00000313478.7:c.1560G>T	p.Met520Ile	p.M520I	ENST00000313478	NM_017672.4	520	atG/atT	0	1	1	UPI0000071CBA	0	NA	ENST00000313478		ENSG00000092439	17994		26	1.235		HGNC	p.M520I		TRPM7		SNV			1				ENST00000313478	protein_coding	getma.org/?cm=var&var=hg19,15,50906395,C,A&fts=all		hmmpanther:PTHR13800:SF8,hmmpanther:PTHR13800		M/I		A	low	1842/7263		getma.org/?cm=msa&ty=f&p=TRPM7_HUMAN&rb=401&re=600&var=M520I	tolerated(0.52)				YES	TRPM7,missense_variant,p.Met520Ile,ENST00000313478,NM_017672.4;TRPM7,missense_variant,p.Met520Ile,ENST00000560955,;TRPM7,missense_variant,p.Met57Ile,ENST00000560638,;							MODERATE	1560/5598	M520I	TRPM7_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000320239		CCDS42035.1			1	
RAD51C	0	LGGM	GRCh37	17	56774094	56774094	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	34	3	.	.	ENST00000337432.4:c.445G>T	p.Gly149Ter	p.G149*	ENST00000337432	NM_058216.2	149	Gga/Tga	0	1	1	UPI0000133007	0	NA	ENST00000337432		ENSG00000108384	9820		37	0		HGNC	p.G149X		RAD51C		SNV			1				ENST00000337432	protein_coding	getma.org/?cm=var&var=hg19,17,56774094,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF08423,PIRSF_domain:PIRSF005856,PROSITE_profiles:PS50162,hmmpanther:PTHR22942,hmmpanther:PTHR22942:SF14,Superfamily_domains:SSF52540		G/*		T	NA	516/1322		NA		Q7KZJ0_HUMAN,J3QR58_HUMAN			YES	RAD51C,stop_gained,p.Gly149Ter,ENST00000337432,NM_058216.2;RAD51C,stop_gained,p.Gly149Ter,ENST00000583539,;RAD51C,stop_gained,p.Gly29Ter,ENST00000413590,;RAD51C,stop_gained,p.Gly32Ter,ENST00000461271,;RAD51C,stop_gained,p.Gly81Ter,ENST00000425173,;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,downstream_gene_variant,,ENST00000421782,NM_002876.3;RAD51C,non_coding_transcript_exon_variant,,ENST00000487921,;RAD51C,downstream_gene_variant,,ENST00000476741,;RAD51C,3_prime_UTR_variant,,ENST00000475762,;RAD51C,3_prime_UTR_variant,,ENST00000584617,;RAD51C,intron_variant,,ENST00000487525,;RAD51C,intron_variant,,ENST00000482007,;TEX14,upstream_gene_variant,,ENST00000582740,;RAD51C,downstream_gene_variant,,ENST00000486827,;							HIGH	445/1131	G149*	RA51C_HUMAN			Transcript			.	ENSP00000336701		CCDS11611.1			1	
PJA1	0	LGGM	GRCh37	X	68381824	68381824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	24	3	.	.	ENST00000361478.1:c.1258G>T	p.Gly420Cys	p.G420C	ENST00000361478	NM_145119.3	420	Ggt/Tgt	0	1	1	UPI000006D00A	0	NA	ENST00000361478		ENSG00000181191	16648		27	0		HGNC	p.G232C		PJA1		SNV							ENST00000374584	protein_coding	getma.org/?cm=var&var=hg19,X,68381824,C,A&fts=all		hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF2,Low_complexity_(Seg):seg		G/C		A	neutral	1636/2755		getma.org/?cm=msa&ty=f&p=PJA1_HUMAN&rb=1&re=507&var=G420C	deleterious(0.02)	K7EPI8_HUMAN,B4DDN5_HUMAN			YES	PJA1,missense_variant,p.Gly420Cys,ENST00000361478,NM_145119.3,NM_001032396.2,NM_022368.4;PJA1,missense_variant,p.Gly420Cys,ENST00000374583,;PJA1,missense_variant,p.Gly365Cys,ENST00000374571,;PJA1,missense_variant,p.Gly232Cys,ENST00000374584,;PJA1,intron_variant,,ENST00000471141,;PJA1,downstream_gene_variant,,ENST00000590146,;PJA1,downstream_gene_variant,,ENST00000477231,;							MODERATE	1258/1932	G420C	PJA1_HUMAN			Transcript		possibly_damaging(0.466)	.	ENSP00000355014		CCDS14393.1			1	
COL2A1	0	LGGM	GRCh37	12	48389079	48389079	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	14	3	.	.	ENST00000380518.3:c.721C>A	p.Pro241Thr	p.P241T	ENST00000380518	NM_033150.2	241	Ccc/Acc	0	1	1	UPI0000D79713	0	getma.org/pdb.php?prot=CO2A1_HUMAN&from=237&to=317&var=P241T	ENST00000380518		ENSG00000139219	2200		17	2.325		HGNC	p.P172T		COL2A1		SNV			1				ENST00000337299	protein_coding	getma.org/?cm=var&var=hg19,12,48389079,G,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Low_complexity_(Seg):seg		P/T		T	medium	886/5071		getma.org/?cm=msa&ty=f&p=CO2A1_HUMAN&rb=237&re=317&var=P241T					YES	COL2A1,missense_variant,p.Pro241Thr,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,missense_variant,p.Pro172Thr,ENST00000337299,;COL2A1,downstream_gene_variant,,ENST00000474996,;COL2A1,downstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000490609,;							MODERATE	721/4464	P241T	CO2A1_HUMAN			Transcript		unknown(0)	.	ENSP00000369889		CCDS41778.1			1	
TOP2A	0	LGGM	GRCh37	17	38562648	38562648	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	37	3	.	.	ENST00000423485.1:c.1941T>C	p.Ala647=	p.A647=	ENST00000423485	NM_001067.3	647	gcT/gcC	0	1	1	UPI0000137195	0		ENST00000423485		ENSG00000131747	11989		40			HGNC	p.A647A		TOP2A		SNV			1				ENST00000423485	protein_coding			hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,SMART_domains:SM00433,Superfamily_domains:SSF56719		A		G		2100/5758				J3QR57_HUMAN,J3KTB7_HUMAN			YES	TOP2A,synonymous_variant,p.=,ENST00000423485,NM_001067.3;							LOW	1941/4596		TOP2A_HUMAN			Transcript			.	ENSP00000411532		CCDS45672.1			1	
TDRD5	0	LGGM	GRCh37	1	179660030	179660030	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	20	3	.	.	ENST00000444136.1:c.3060C>A	p.Ser1020=	p.S1020=	ENST00000444136	NM_001199089.1	1020	tcC/tcA	0	1		UPI00001C0E0A	0		ENST00000294848		ENSG00000162782	20614		23			HGNC	p.S476S		TDRD5		SNV							ENST00000417329	protein_coding			Low_complexity_(Seg):seg		S		A		3148/3525								TDRD5,synonymous_variant,p.=,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,synonymous_variant,p.=,ENST00000367614,NM_001199091.1;TDRD5,synonymous_variant,p.=,ENST00000294848,NM_173533.3,NM_001199092.1;TDRD5,synonymous_variant,p.=,ENST00000417329,;							LOW	2898/2946		TDRD5_HUMAN			Transcript			.	ENSP00000294848		CCDS1332.1			1	
DUOX2	0	LGGM	GRCh37	15	45396485	45396485	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	7	3	.	.	ENST00000603300.1:c.2413G>T	p.Glu805Ter	p.E805*	ENST00000603300	NM_014080.4	805	Gag/Tag	0	1	1	UPI000013D775	0	NA	ENST00000603300		ENSG00000140279	13273		10	0		HGNC	p.E805X		DUOX2		SNV			1				ENST00000389039	protein_coding	getma.org/?cm=var&var=hg19,15,45396485,C,A&fts=all		Gene3D:1.10.238.10,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53		E/*		A	NA	2616/6345		NA		S6B490_HUMAN			YES	DUOX2,stop_gained,p.Glu805Ter,ENST00000389039,;DUOX2,stop_gained,p.Glu805Ter,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,upstream_gene_variant,,ENST00000558416,;DUOX2,upstream_gene_variant,,ENST00000560797,;							HIGH	2413/4647	E805*	DUOX2_HUMAN			Transcript			.	ENSP00000475084		CCDS10117.1			1	
SPIC	0	LGGM	GRCh37	12	101880334	101880334	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	29	3	.	.	ENST00000551346.1:c.532A>C	p.Arg178=	p.R178=	ENST00000551346		178	Aga/Cga	0	1	1	UPI0000073CD8	0		ENST00000551346		ENSG00000166211	29549		32			HGNC	p.R178R		SPIC		SNV							ENST00000551346	protein_coding			Gene3D:1.10.10.10,Pfam_domain:PF00178,Prints_domain:PR00454,PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF17,SMART_domains:SM00413,Superfamily_domains:SSF46785		R		C		691/1132							YES	SPIC,synonymous_variant,p.=,ENST00000551346,;SPIC,synonymous_variant,p.=,ENST00000299272,NM_152323.1;							LOW	532/747		SPIC_HUMAN			Transcript			.	ENSP00000448580		CCDS9082.1			1	
LENG8	0	LGGM	GRCh37	19	54965827	54965827	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	10	3	.	.	ENST00000326764.5:c.645C>A	p.Pro215=	p.P215=	ENST00000326764	NM_052925.2	215	ccC/ccA	0	1	1	UPI0000074196	0		ENST00000326764		ENSG00000167615	15500		13			HGNC	p.P215P		LENG8		SNV							ENST00000431846	protein_coding			hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436		P		A		1124/3991				E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN			YES	LENG8,synonymous_variant,p.=,ENST00000431846,;LENG8,synonymous_variant,p.=,ENST00000376526,;LENG8,synonymous_variant,p.=,ENST00000326764,NM_052925.2;LENG8,synonymous_variant,p.=,ENST00000439657,;LENG8,intron_variant,,ENST00000376514,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000462541,;							LOW	645/2403		LENG8_HUMAN			Transcript			.	ENSP00000318374		CCDS12894.1			1	
AGO3	0	LGGM	GRCh37	1	36448235	36448235	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	29	3	.	.	ENST00000373191.4:c.658+9123G>A		*220*	ENST00000373191	NM_024852.3			0	1	1	UPI0000141361	0		ENST00000373191		ENSG00000126070	18421		32			HGNC	p.W224X		AGO3		SNV							ENST00000324350	protein_coding							A		-/19687				B4DY67_HUMAN			YES	AGO3,stop_gained,p.Trp224Ter,ENST00000324350,;AGO3,stop_gained,p.Trp224Ter,ENST00000397828,;AGO3,intron_variant,,ENST00000373191,NM_024852.3;AGO3,intron_variant,,ENST00000246314,NM_177422.2;							MODIFIER	-/2583		AGO3_HUMAN			Transcript			.	ENSP00000362287		CCDS399.1			1	
MYOZ3	0	LGGM	GRCh37	5	150042529	150042529	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	7	3	.	.	ENST00000297130.4:c.26C>T	p.Pro9Leu	p.P9L	ENST00000297130	NM_133371.4	9	cCa/cTa	0	1	1	UPI000013E3C8	0	NA	ENST00000297130		ENSG00000164591	18565		10	1.61		HGNC	p.P9L		MYOZ3		SNV							ENST00000517768	protein_coding	getma.org/?cm=var&var=hg19,5,150042529,C,T&fts=all		hmmpanther:PTHR15941:SF10,hmmpanther:PTHR15941,Pfam_domain:PF05556		P/L		T	low	225/3445		getma.org/?cm=msa&ty=f&p=MYOZ3_HUMAN&rb=1&re=251&var=P9L	tolerated(0.07)	H0YC50_HUMAN			YES	MYOZ3,missense_variant,p.Pro9Leu,ENST00000297130,NM_133371.4,NM_001122853.2;MYOZ3,missense_variant,p.Pro9Leu,ENST00000517768,;SYNPO,downstream_gene_variant,,ENST00000307662,NM_007286.5;MYOZ3,non_coding_transcript_exon_variant,,ENST00000517861,;							MODERATE	26/756	P9L	MYOZ3_HUMAN			Transcript		benign(0.038)	.	ENSP00000297130		CCDS4309.1			1	
BRD1	0	LGGM	GRCh37	22	50217641	50217641	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	18	3	.	.	ENST00000216267.8:c.325G>T	p.Gly109Cys	p.G109C	ENST00000216267	NM_014577.1	109	Ggc/Tgc	0	1	1	UPI0000126ACA	0	NA	ENST00000216267		ENSG00000100425	1102		21	2.125		HGNC	p.G109C		BRD1		SNV							ENST00000216267	protein_coding	getma.org/?cm=var&var=hg19,22,50217641,C,A&fts=all		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17,Pfam_domain:PF10513		G/C		A	medium	812/4614		getma.org/?cm=msa&ty=f&p=BRD1_HUMAN&rb=46&re=196&var=G109C	deleterious(0)	Q659H0_HUMAN			YES	BRD1,missense_variant,p.Gly109Cys,ENST00000216267,NM_014577.1;BRD1,missense_variant,p.Gly109Cys,ENST00000404760,;BRD1,missense_variant,p.Gly109Cys,ENST00000457780,;BRD1,missense_variant,p.Gly109Cys,ENST00000404034,;BRD1,upstream_gene_variant,,ENST00000342989,;BRD1,upstream_gene_variant,,ENST00000542442,;BRD1,upstream_gene_variant,,ENST00000459821,;BRD1,upstream_gene_variant,,ENST00000494833,;BRD1,upstream_gene_variant,,ENST00000438393,;							MODERATE	325/3177	G109C	BRD1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000216267		CCDS14080.1			1	
MYH7	0	LGGM	GRCh37	14	23884593	23884593	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	37	3	.	.	ENST00000355349.3:c.5280G>T	p.Thr1760=	p.T1760=	ENST00000355349	NM_000257.2	1760	acG/acT	0	1	1	UPI000014019B	0		ENST00000355349		ENSG00000092054	7577		40			HGNC	p.T1760T		MYH7		SNV			1				ENST00000355349	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279		T		A		5443/6087				Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.2;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,non_coding_transcript_exon_variant,,ENST00000557368,;							LOW	5280/5808		MYH7_HUMAN			Transcript			.	ENSP00000347507		CCDS9601.1			1	
HECTD4	0	LGGM	GRCh37	12	112669519	112669519	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	20	3	.	.	ENST00000550722.1:c.5560G>A	p.Gly1854Ser	p.G1854S	ENST00000550722	NM_001109662.3	1854	Ggt/Agt	0	1	1	UPI00020CE513	0	NA	ENST00000550722		ENSG00000173064	26611		23	-0.205		HGNC	p.G1578S		HECTD4		SNV							ENST00000430131	protein_coding	getma.org/?cm=var&var=hg19,12,112669519,C,T&fts=all		hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254		G/S		T	neutral	5956/15405		getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=1&re=2133&var=G1578S		F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,missense_variant,p.Gly1854Ser,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Gly1578Ser,ENST00000430131,;HECTD4,missense_variant,p.Gly1828Ser,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000550968,;HECTD4,upstream_gene_variant,,ENST00000547519,;							MODERATE	5560/12819	G1578S				Transcript		benign(0)	.	ENSP00000449784					1	
GTPBP4	0	LGGM	GRCh37	10	1058585	1058585	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	34	3	.	.	ENST00000360803.4:c.1525C>T	p.Pro509Ser	p.P509S	ENST00000360803	NM_012341.2	509	Ccg/Tcg	0	1	1	UPI000000D960	0	NA	ENST00000360803		ENSG00000107937	21535		37	2.285		HGNC	p.P462S	COSM1492220	GTPBP4		SNV						1	ENST00000545048	protein_coding	getma.org/?cm=var&var=hg19,10,1058585,C,T&fts=all		hmmpanther:PTHR11702:SF23,hmmpanther:PTHR11702,PIRSF_domain:PIRSF038919		P/S		T	medium	1607/4696		getma.org/?cm=msa&ty=f&p=NOG1_HUMAN&rb=447&re=634&var=P509S	tolerated(0.1)	Q5T3R7_HUMAN,D2CFK9_HUMAN,B7Z7A3_HUMAN,B4DY13_HUMAN			YES	GTPBP4,missense_variant,p.Pro509Ser,ENST00000360803,NM_012341.2;GTPBP4,missense_variant,p.Pro462Ser,ENST00000545048,;GTPBP4,missense_variant,p.Pro393Ser,ENST00000538293,;GTPBP4,non_coding_transcript_exon_variant,,ENST00000483839,;GTPBP4,downstream_gene_variant,,ENST00000491635,;					1		MODERATE	1525/1905	P509S	NOG1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000354040		CCDS31132.1			1	
GK5	0	LGGM	GRCh37	3	141917715	141917715	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	18	3	.	.	ENST00000392993.2:c.472G>T	p.Ala158Ser	p.A158S	ENST00000392993	NM_001039547.2	158	Gcc/Tcc	0	1	1	UPI000069B0CB	0	getma.org/pdb.php?prot=GLPK5_HUMAN&from=20&to=282&var=A158S	ENST00000392993		ENSG00000175066	28635		21	0.33		HGNC	p.A158S		GK5		SNV							ENST00000392993	protein_coding	getma.org/?cm=var&var=hg19,3,141917715,C,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF54,Superfamily_domains:SSF53067		A/S		A	neutral	624/3422		getma.org/?cm=msa&ty=f&p=GLPK5_HUMAN&rb=20&re=282&var=A158S	deleterious(0.04)				YES	GK5,missense_variant,p.Ala158Ser,ENST00000392993,NM_001039547.2;GK5,missense_variant,p.Ala158Ser,ENST00000544571,;GK5,missense_variant,p.Ala158Ser,ENST00000480757,;GK5,missense_variant,p.Ala158Ser,ENST00000492097,;GK5,3_prime_UTR_variant,,ENST00000487672,;GK5,non_coding_transcript_exon_variant,,ENST00000460544,;							MODERATE	472/1590	A158S	GLPK5_HUMAN			Transcript		benign(0.367)	.	ENSP00000418001		CCDS33871.1			1	
TRIM56	0	LGGM	GRCh37	7	100730596	100730596	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	32	3	.	.	ENST00000306085.6:c.3G>T	p.Met1?	p.M1?	ENST00000306085	NM_030961.1	1	atG/atT	0	1	1	UPI0000171C4A	0	NA	ENST00000306085		ENSG00000169871	19028		35	0		HGNC	p.M1I		TRIM56		SNV							ENST00000306085	protein_coding	getma.org/?cm=var&var=hg19,7,100730596,G,T&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF287		M/I		T	NA	300/3613		http://getma.org/?cm=msa&ty=f&p=TRI56_HUMAN&rb=1&re=46&var=M1I	deleterious_low_confidence(0)				YES	TRIM56,start_lost,p.Met1?,ENST00000306085,NM_030961.1;TRIM56,start_lost,p.Met1?,ENST00000412507,;TRIM56,upstream_gene_variant,,ENST00000487252,;TRIM56,non_coding_transcript_exon_variant,,ENST00000467847,;							HIGH	Mar-68	M1I	TRI56_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000305161		CCDS43625.1			1	
BLTP1	0	LGGM	GRCh37	4	123156137	123156137	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	21	3	.	.	ENST00000264501.4:c.3533G>T	p.Gly1178Val	p.G1178V	ENST00000264501		1178	gGa/gTa	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		24	1.32		HGNC	p.G1178V		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123156137,G,T&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		G/V		T	low	3906/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1&re=1180&var=G1178V		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Gly1178Val,ENST00000264501,;KIAA1109,missense_variant,p.Gly1178Val,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Gly1178Val,ENST00000455637,;KIAA1109,missense_variant,p.Gly1010Val,ENST00000424425,;KIAA1109,upstream_gene_variant,,ENST00000446180,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;							MODERATE	3533/15018	G1178V	K1109_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264501		CCDS43267.1			1	
DICER1	0	LGGM	GRCh37	14	95560372	95560372	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	20	3	.	.	ENST00000343455.3:c.5217G>T	p.Leu1739=	p.L1739=	ENST00000343455	NM_177438.2	1739	ctG/ctT	0	1		UPI0000168662	0		ENST00000343455		ENSG00000100697	17098		23			HGNC	p.L637L		DICER1		SNV			1				ENST00000556045	protein_coding			Gene3D:1.10.1520.10,Pfam_domain:PF00636,PROSITE_profiles:PS50142,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3,SMART_domains:SM00535,Superfamily_domains:SSF69065		L		A		5455/10277				Q5D0K5_HUMAN,B3KMJ0_HUMAN				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,downstream_gene_variant,,ENST00000532939,;DICER1,upstream_gene_variant,,ENST00000527416,;DICER1,upstream_gene_variant,,ENST00000527554,;							LOW	5217/5769		DICER_HUMAN			Transcript			.	ENSP00000343745		CCDS9931.1			1	
TRAFD1	0	LGGM	GRCh37	12	112585882	112585882	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	8	3	.	.	ENST00000257604.5:c.932G>T	p.Ser311Ile	p.S311I	ENST00000257604	NM_001143906.1	311	aGc/aTc	0	1	1	UPI0000073DDD	0	NA	ENST00000257604		ENSG00000135148	24808		11	2.08		HGNC	p.S311I	COSM1268462	TRAFD1		SNV						1	ENST00000412615	protein_coding	getma.org/?cm=var&var=hg19,12,112585882,G,T&fts=all		hmmpanther:PTHR16295:SF14,hmmpanther:PTHR16295		S/I		T	medium	1549/3178		getma.org/?cm=msa&ty=f&p=TRAD1_HUMAN&rb=154&re=580&var=S311I	deleterious(0.03)	S4R2Z9_HUMAN,F8VVF3_HUMAN,F8VNX8_HUMAN			YES	TRAFD1,missense_variant,p.Ser311Ile,ENST00000257604,NM_001143906.1;TRAFD1,missense_variant,p.Ser311Ile,ENST00000412615,NM_006700.2;Y_RNA,upstream_gene_variant,,ENST00000363265,;TRAFD1,3_prime_UTR_variant,,ENST00000552890,;TRAFD1,non_coding_transcript_exon_variant,,ENST00000548277,;					1		MODERATE	932/1749	S311I	TRAD1_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000257604		CCDS9160.1			1	
FKBP8	0	LGGM	GRCh37	19	18652522	18652522	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	12	3	.	.	ENST00000608443.1:c.259G>A	p.Ala87Thr	p.A87T	ENST00000608443		87	Gcc/Acc	0	1		UPI000000D918	0	NA	ENST00000222308		ENSG00000105701	3724		15	0		HGNC	p.A87T		FKBP8		SNV							ENST00000544835	protein_coding	getma.org/?cm=var&var=hg19,19,18652522,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF271		A/T		T	neutral	323/1710		getma.org/?cm=msa&ty=f&p=FKBP8_HUMAN&rb=1&re=89&var=A87T	tolerated(0.35)	M0R2Q6_HUMAN,M0R1S6_HUMAN,M0R1Q0_HUMAN				FKBP8,missense_variant,p.Ala87Thr,ENST00000608443,;FKBP8,missense_variant,p.Ala87Thr,ENST00000597960,NM_012181.3;FKBP8,missense_variant,p.Ala87Thr,ENST00000596558,;FKBP8,missense_variant,p.Ala87Thr,ENST00000222308,;FKBP8,missense_variant,p.Ala116Thr,ENST00000453489,;FKBP8,missense_variant,p.Ala87Thr,ENST00000544835,;FKBP8,missense_variant,p.Ala87Thr,ENST00000610101,;FKBP8,missense_variant,p.Ala87Thr,ENST00000599540,;FKBP8,missense_variant,p.Ala87Thr,ENST00000597611,;FKBP8,missense_variant,p.Ala87Thr,ENST00000594844,;FKBP8,missense_variant,p.Ala87Thr,ENST00000597547,;FKBP8,upstream_gene_variant,,ENST00000596015,;FKBP8,upstream_gene_variant,,ENST00000606531,;FKBP8,downstream_gene_variant,,ENST00000609656,;FKBP8,missense_variant,p.Ala87Thr,ENST00000601844,;FKBP8,upstream_gene_variant,,ENST00000596494,;							MODERATE	259/1239	A87T	FKBP8_HUMAN			Transcript		benign(0.002)	.	ENSP00000222308					1	
SMTN	0	LGGM	GRCh37	22	31493019	31493019	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	8	3	.	.	ENST00000358743.1:c.2062G>T	p.Glu688Ter	p.E688*	ENST00000358743	NM_134270.2	688	Gag/Tag	0	1		UPI000015FD9B	0	NA	ENST00000347557		ENSG00000183963	11126		11	0		HGNC	p.E688X		SMTN		SNV							ENST00000347557	protein_coding	getma.org/?cm=var&var=hg19,22,31493019,G,T&fts=all		hmmpanther:PTHR11915:SF208,hmmpanther:PTHR11915		E/*		T	NA	2280/3130		NA		C9JP19_HUMAN,C9JGQ0_HUMAN				SMTN,stop_gained,p.Glu688Ter,ENST00000333137,NM_001207018.1,NM_134269.2;SMTN,stop_gained,p.Glu688Ter,ENST00000358743,NM_134270.2;SMTN,stop_gained,p.Glu688Ter,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,,ENST00000504335,;SMTN,upstream_gene_variant,,ENST00000472911,;							HIGH	2062/2754	E688*	SMTN_HUMAN			Transcript			.	ENSP00000328635		CCDS13886.1			1	
BCOR	0	LGGM	GRCh37	X	39934313	39934313	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	17	3	.	.	ENST00000378444.4:c.286C>A	p.Leu96Met	p.L96M	ENST00000378444	NM_001123385.1	96	Ctg/Atg	0	1	1	UPI00002318CF	0	NA	ENST00000378444		ENSG00000183337	20893		20	0.895		HGNC	p.L96M		BCOR		SNV			1				ENST00000378444	protein_coding	getma.org/?cm=var&var=hg19,X,39934313,G,T&fts=all		hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8		L/M		T	low	515/6358		getma.org/?cm=msa&ty=f&p=BCOR_HUMAN&rb=1&re=200&var=L96M	deleterious(0)	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN			YES	BCOR,missense_variant,p.Leu96Met,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Leu96Met,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Leu96Met,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Leu96Met,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Leu96Met,ENST00000406200,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;							MODERATE	286/5268	L96M	BCOR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000367705		CCDS48093.1			1	
USP50	0	LGGM	GRCh37	15	50833247	50833247	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	31	3	.	.	ENST00000532404.1:c.659G>T	p.Arg220Leu	p.R220L	ENST00000532404	NM_203494.4	220	cGg/cTg	0	1	1	UPI0001CB7F8F	0	getma.org/pdb.php?prot=UBP50_HUMAN&from=41&to=339&var=R225L	ENST00000532404		ENSG00000170236	20079		34	-0.03		HGNC	p.R220L		USP50		SNV							ENST00000532404	protein_coding	getma.org/?cm=var&var=hg19,15,50833247,C,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF397,Pfam_domain:PF00443,Superfamily_domains:SSF54001		R/L		A	neutral	833/1386		getma.org/?cm=msa&ty=f&p=UBP50_HUMAN&rb=41&re=339&var=R225L	deleterious(0)	E9PP86_HUMAN			YES	USP50,missense_variant,p.Arg220Leu,ENST00000532404,NM_203494.4;USP50,intron_variant,,ENST00000530218,;USP50,splice_region_variant,,ENST00000559105,;USP50,upstream_gene_variant,,ENST00000529349,;							MODERATE	659/1005	R225L				Transcript		benign(0.002)	.	ENSP00000434676		CCDS53944.1			1	
LIPF	0	LGGM	GRCh37	10	90433491	90433491	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	39	3	.	.	ENST00000394375.3:c.846G>T	p.Thr282=	p.T282=	ENST00000394375	NM_001198829.1	282	acG/acT	0	1		UPI000002B8F3	0		ENST00000238983		ENSG00000182333	6622		42			HGNC	p.T272T		LIPF		SNV							ENST00000238983	protein_coding			Gene3D:3.40.50.1820,Pfam_domain:PF00561,PIRSF_domain:PIRSF000862,hmmpanther:PTHR11005,hmmpanther:PTHR11005:SF25,Superfamily_domains:SSF53474		T		T		862/1376								LIPF,splice_region_variant,p.=,ENST00000394375,NM_001198829.1;LIPF,splice_region_variant,p.=,ENST00000238983,NM_004190.3;LIPF,splice_region_variant,p.=,ENST00000355843,NM_001198830.1;LIPF,splice_region_variant,p.=,ENST00000608620,NM_001198828.1;LIPF,downstream_gene_variant,,ENST00000609378,;LIPF,upstream_gene_variant,,ENST00000496797,;							LOW	816/1197		LIPG_HUMAN			Transcript			.	ENSP00000238983		CCDS7389.1			1	
TNFRSF17	0	LGGM	GRCh37	16	12061631	12061631	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	36	4	.	.	ENST00000053243.1:c.482C>A	p.Thr161Lys	p.T161K	ENST00000053243	NM_001192.2	161	aCg/aAg	0	1	1	UPI000013C562	0	NA	ENST00000053243		ENSG00000048462	11913		40	2.095		HGNC	p.T161K		TNFRSF17		SNV							ENST00000053243	protein_coding	getma.org/?cm=var&var=hg19,16,12061631,C,A&fts=all		hmmpanther:PTHR20437:SF0,hmmpanther:PTHR20437,PIRSF_domain:PIRSF011859		T/K		A	medium	700/994		getma.org/?cm=msa&ty=f&p=TNR17_HUMAN&rb=47&re=184&var=T161K	deleterious(0)				YES	TNFRSF17,missense_variant,p.Thr161Lys,ENST00000053243,NM_001192.2;TNFRSF17,missense_variant,p.Thr112Lys,ENST00000396495,;RP11-166B2.1,intron_variant,,ENST00000538896,;TNFRSF17,downstream_gene_variant,,ENST00000562385,;AC007216.2,downstream_gene_variant,,ENST00000597717,;RP11-166B2.1,intron_variant,,ENST00000532936,;UBL5P4,downstream_gene_variant,,ENST00000562584,;							MODERATE	482/555	T161K	TNR17_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000053243		CCDS10552.1			1	
KLK15	0	LGGM	GRCh37	19	51330007	51330007	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	42	4	.	.	ENST00000598239.1:c.488T>C	p.Leu163Pro	p.L163P	ENST00000598239	NM_001277081.1	163	cTc/cCc	0	1	1	UPI000004CA04	0	getma.org/pdb.php?prot=KLK15_HUMAN&from=22&to=249&var=L163P	ENST00000598239		ENSG00000174562	20453		46	0.925		HGNC	p.L162P		KLK15		SNV							ENST00000326856	protein_coding	getma.org/?cm=var&var=hg19,19,51330007,A,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF68,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		L/P		G	low	519/855		getma.org/?cm=msa&ty=f&p=KLK15_HUMAN&rb=22&re=249&var=L163P	deleterious(0.01)	S5TEP0_HUMAN,M0R2F7_HUMAN			YES	KLK15,missense_variant,p.Leu162Pro,ENST00000326856,;KLK15,missense_variant,p.Leu163Pro,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,;							MODERATE	488/771	L163P	KLK15_HUMAN			Transcript		benign(0.166)	.	ENSP00000469315		CCDS12805.1			1	
ARHGEF28	0	LGGM	GRCh37	5	73168851	73168851	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	73	4	.	.	ENST00000545377.1:c.2594T>C	p.Ile865Thr	p.I865T	ENST00000545377	NM_001080479.2	865	aTc/aCc	0	1		UPI0001AE73FF	0	getma.org/pdb.php?prot=RGNEF_HUMAN&from=853&to=1043&var=I865T	ENST00000426542		ENSG00000214944	30322		77	0.895		HGNC	p.I865T		ARHGEF28		SNV							ENST00000437974	protein_coding	getma.org/?cm=var&var=hg19,5,73168851,T,C&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065		I/T		C	low	2614/6118		getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=853&re=1043&var=I865T	deleterious(0)	D6RAP0_HUMAN				ARHGEF28,missense_variant,p.Ile865Thr,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Ile865Thr,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Ile865Thr,ENST00000287898,;ARHGEF28,missense_variant,p.Ile865Thr,ENST00000426542,;ARHGEF28,missense_variant,p.Ile865Thr,ENST00000437974,;ARHGEF28,missense_variant,p.Ile865Thr,ENST00000296794,;ARHGEF28,missense_variant,p.Ile552Thr,ENST00000296799,NM_001244364.1;							MODERATE	2594/5118	I865T	ARG28_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000412175		CCDS54870.1			1	
IPCEF1	0	LGGM	GRCh37	6	154481006	154481006	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	8	4	.	.	ENST00000422970.2:c.1274T>G	p.Leu425Arg	p.L425R	ENST00000422970	NM_001130699.1	425	cTc/cGc	0	1		UPI0000049885	0	NA	ENST00000265198		ENSG00000074706	21204		12	1.39		HGNC	p.L425R		IPCEF1		SNV							ENST00000422970	protein_coding	getma.org/?cm=var&var=hg19,6,154481006,A,C&fts=all		hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19		L/R		C	low	1427/6689		getma.org/?cm=msa&ty=f&p=ICEF1_HUMAN&rb=340&re=437&var=L424R	tolerated_low_confidence(0.1)	G3V132_HUMAN,E5RK08_HUMAN,E5RJQ7_HUMAN,E5RGN6_HUMAN,E5RGB6_HUMAN				IPCEF1,missense_variant,p.Leu424Arg,ENST00000265198,NM_015553.2,NM_001130700.1;IPCEF1,missense_variant,p.Leu425Arg,ENST00000422970,NM_001130699.1;IPCEF1,missense_variant,p.Leu425Arg,ENST00000367220,;IPCEF1,missense_variant,p.Leu396Arg,ENST00000519344,;OPRM1,intron_variant,,ENST00000337049,NM_001008503.1;IPCEF1,upstream_gene_variant,,ENST00000470622,;IPCEF1,non_coding_transcript_exon_variant,,ENST00000522590,;OPRM1,intron_variant,,ENST00000524150,;							MODERATE	1271/1314	L424R	ICEF1_HUMAN			Transcript		benign(0.006)	.	ENSP00000265198		CCDS5245.1			1	
TM2D2	0	LGGM	GRCh37	8	38851124	38851124	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	29	4	.	.	ENST00000456397.2:c.371T>G	p.Leu124Ter	p.L124*	ENST00000456397	NM_078473.2	124	tTa/tGa	0	1	1	UPI000006FCA0	0	NA	ENST00000456397		ENSG00000169490	24127		33	0		HGNC	p.L81X		TM2D2		SNV							ENST00000397070	protein_coding	getma.org/?cm=var&var=hg19,8,38851124,A,C&fts=all		hmmpanther:PTHR21016:SF4,hmmpanther:PTHR21016		L/*		C	NA	465/3263		NA					YES	TM2D2,stop_gained,p.Leu81Ter,ENST00000412303,NM_001024381.1,NM_001024380.1,NM_031940.3;TM2D2,stop_gained,p.Leu81Ter,ENST00000456845,;TM2D2,stop_gained,p.Leu124Ter,ENST00000456397,NM_078473.2;TM2D2,stop_gained,p.Leu81Ter,ENST00000397070,;TM2D2,stop_gained,p.Leu81Ter,ENST00000522142,;ADAM9,upstream_gene_variant,,ENST00000487273,NM_003816.2;ADAM9,upstream_gene_variant,,ENST00000481513,;HTRA4,downstream_gene_variant,,ENST00000302495,NM_153692.3;ADAM9,upstream_gene_variant,,ENST00000466936,;TM2D2,downstream_gene_variant,,ENST00000517872,;TM2D2,downstream_gene_variant,,ENST00000520152,;TM2D2,non_coding_transcript_exon_variant,,ENST00000522434,;TM2D2,non_coding_transcript_exon_variant,,ENST00000521060,;TM2D2,non_coding_transcript_exon_variant,,ENST00000524331,;ADAM9,upstream_gene_variant,,ENST00000379917,;ADAM9,upstream_gene_variant,,ENST00000481873,;ADAM9,upstream_gene_variant,,ENST00000468065,;TM2D2,downstream_gene_variant,,ENST00000519186,;							HIGH	371/645	L124*	TM2D2_HUMAN			Transcript			.	ENSP00000416050		CCDS6111.1			1	
PARP6	0	LGGM	GRCh37	15	72543552	72543552	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	17	4	.	.	ENST00000569795.1:c.1304G>C	p.Ser435Thr	p.S435T	ENST00000569795		435	aGc/aCc	0	1		UPI000067DA73	0	NA	ENST00000287196		ENSG00000137817	26921		21	0.075		HGNC	p.S435T		PARP6		SNV							ENST00000419739	protein_coding	getma.org/?cm=var&var=hg19,15,72543552,C,G&fts=all		Superfamily_domains:SSF56399,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF23,PROSITE_profiles:PS51059		S/T		G	neutral	1763/2625		getma.org/?cm=msa&ty=f&p=PARP6_HUMAN&rb=394&re=620&var=S435T	tolerated(0.23)	H3BUY2_HUMAN,H3BTI3_HUMAN				PARP6,missense_variant,p.Ser435Thr,ENST00000569795,;PARP6,missense_variant,p.Ser435Thr,ENST00000287196,NM_020214.2;PARP6,missense_variant,p.Ser435Thr,ENST00000260376,;PARP6,missense_variant,p.Ser368Thr,ENST00000567974,;PARP6,missense_variant,p.Ser435Thr,ENST00000419739,;PARP6,intron_variant,,ENST00000569173,;PARP6,non_coding_transcript_exon_variant,,ENST00000413097,;PARP6,non_coding_transcript_exon_variant,,ENST00000544520,;PARP6,missense_variant,p.Ser435Thr,ENST00000565443,;PARP6,missense_variant,p.Ser368Thr,ENST00000564610,;PARP6,missense_variant,p.Ser68Thr,ENST00000569890,;PARP6,3_prime_UTR_variant,,ENST00000567440,;PARP6,3_prime_UTR_variant,,ENST00000567042,;PARP6,non_coding_transcript_exon_variant,,ENST00000566831,;PARP6,intron_variant,,ENST00000567263,;PARP6,upstream_gene_variant,,ENST00000569972,;PARP6,upstream_gene_variant,,ENST00000568213,;							MODERATE	1304/1893	S435T	PARP6_HUMAN			Transcript		benign(0.328)	.	ENSP00000287196		CCDS10241.2			1	
SLC8A3	0	LGGM	GRCh37	14	70633417	70633417	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	17	4	.	.	ENST00000381269.2:c.1723G>A	p.Gly575Ser	p.G575S	ENST00000381269	NM_183002.1	575	Ggt/Agt	0	1	1	UPI0000073C9A	0	getma.org/pdb.php?prot=NAC3_HUMAN&from=519&to=619&var=G575S	ENST00000381269		ENSG00000100678	11070		21	1.65		HGNC	p.G575S		SLC8A3		SNV							ENST00000381269	protein_coding	getma.org/?cm=var&var=hg19,14,70633417,C,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072		G/S		T	low	2477/5268		getma.org/?cm=msa&ty=f&p=NAC3_HUMAN&rb=519&re=619&var=G575S	deleterious(0.04)	Q86TQ9_HUMAN			YES	SLC8A3,missense_variant,p.Gly575Ser,ENST00000381269,NM_183002.1,NM_058240.2;SLC8A3,missense_variant,p.Gly575Ser,ENST00000357887,NM_033262.3;SLC8A3,missense_variant,p.Gly575Ser,ENST00000356921,NM_182932.1;SLC8A3,missense_variant,p.Gly575Ser,ENST00000528359,;SLC8A3,missense_variant,p.Gly575Ser,ENST00000534137,;SLC8A3,missense_variant,p.Gly575Ser,ENST00000494208,;							MODERATE	1723/2784	G575S	NAC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370669		CCDS35498.1			1	
ASXL1	0	LGGM	GRCh37	20	31024616	31024616	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	51	4	.	.	ENST00000375687.4:c.4101C>G	p.Val1367=	p.V1367=	ENST00000375687	NM_015338.5	1367	gtC/gtG	0	1	1	UPI000036702C	0		ENST00000375687		ENSG00000171456	18318		55			HGNC	p.V1367V		ASXL1		SNV			1				ENST00000375687	protein_coding			hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		V		G		4525/7031							YES	ASXL1,synonymous_variant,p.=,ENST00000375687,NM_015338.5;ASXL1,synonymous_variant,p.=,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							LOW	4101/4626		ASXL1_HUMAN			Transcript			.	ENSP00000364839		CCDS13201.1			1	
SLC6A6	0	LGGM	GRCh37	3	14508095	14508095	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	31	4	.	.	ENST00000454876.2:c.804G>T	p.Pro268=	p.P268=	ENST00000454876	NM_001134367.2	268	ccG/ccT	0	1	1	UPI000013549A	0		ENST00000454876		ENSG00000131389	11052		35			HGNC	p.P268P		SLC6A6		SNV							ENST00000454876	protein_coding			PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687		P		T		1133/6534				C9JPV1_HUMAN			YES	SLC6A6,synonymous_variant,p.=,ENST00000454876,NM_001134367.2,NM_003043.4;SLC6A6,synonymous_variant,p.=,ENST00000360861,;SLC6A6,synonymous_variant,p.=,ENST00000458124,;SLC6A6,synonymous_variant,p.=,ENST00000427436,;							LOW	804/1863		SC6A6_HUMAN			Transcript			.	ENSP00000398063		CCDS33705.1			1	
YIPF3	0	LGGM	GRCh37	6	43483434	43483434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	15	4	.	.	ENST00000372422.2:c.294G>T	p.Trp98Cys	p.W98C	ENST00000372422	NM_015388.3	98	tgG/tgT	0	1	1	UPI0000037775	0	NA	ENST00000372422		ENSG00000137207	21023		19	2.095		HGNC	p.W98C		YIPF3		SNV							ENST00000503972	protein_coding	getma.org/?cm=var&var=hg19,6,43483434,C,A&fts=all		hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14		W/C		A	medium	477/1576		getma.org/?cm=msa&ty=f&p=YIPF3_HUMAN&rb=1&re=300&var=W98C	deleterious(0)	Q5JTD5_HUMAN,D6RGY8_HUMAN			YES	YIPF3,missense_variant,p.Trp98Cys,ENST00000372422,NM_015388.3;YIPF3,missense_variant,p.Trp104Cys,ENST00000506469,;YIPF3,missense_variant,p.Trp98Cys,ENST00000503972,;YIPF3,missense_variant,p.Trp63Cys,ENST00000511831,;POLR1C,intron_variant,,ENST00000428025,;POLR1C,upstream_gene_variant,,ENST00000372389,NM_203290.2;POLR1C,upstream_gene_variant,,ENST00000304004,;POLR1C,upstream_gene_variant,,ENST00000372344,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,upstream_gene_variant,,ENST00000500090,;RP3-337H4.9,downstream_gene_variant,,ENST00000607571,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,3_prime_UTR_variant,,ENST00000416380,;YIPF3,3_prime_UTR_variant,,ENST00000455768,;YIPF3,non_coding_transcript_exon_variant,,ENST00000502714,;YIPF3,non_coding_transcript_exon_variant,,ENST00000460903,;YIPF3,intron_variant,,ENST00000460547,;POLR1C,upstream_gene_variant,,ENST00000455605,;POLR1C,upstream_gene_variant,,ENST00000481352,;POLR1C,upstream_gene_variant,,ENST00000488601,;YIPF3,upstream_gene_variant,,ENST00000514627,;YIPF3,upstream_gene_variant,,ENST00000503147,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,upstream_gene_variant,,ENST00000372417,;YIPF3,upstream_gene_variant,,ENST00000488966,;YIPF3,upstream_gene_variant,,ENST00000512713,;							MODERATE	294/1053	W98C	YIPF3_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000361499		CCDS4899.1			1	
ASXL1	0	LGGM	GRCh37	20	31024044	31024044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	63	4	.	.	ENST00000375687.4:c.3529C>A	p.Leu1177Ile	p.L1177I	ENST00000375687	NM_015338.5	1177	Ctt/Att	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		67	0.345		HGNC	p.L1177I		ASXL1		SNV			1				ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31024044,C,A&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		L/I		A	neutral	3953/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=1143&re=1341&var=L1177I	tolerated(0.28)				YES	ASXL1,missense_variant,p.Leu1177Ile,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Leu1172Ile,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							MODERATE	3529/4626	L1177I	ASXL1_HUMAN			Transcript		benign(0.017)	.	ENSP00000364839		CCDS13201.1			1	
CCDC180	0	LGGM	GRCh37	9	100092903	100092903	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	12	4	.	.	ENST00000375202.2:c.2260G>T	p.Glu754Ter	p.E754*	ENST00000375202		754	Gag/Tag	0	1	1	UPI00016277C6	0	NA	ENST00000375202		ENSG00000197816	29303		16	0		HGNC	p.E754X		CCDC180		SNV							ENST00000529487	protein_coding	getma.org/?cm=var&var=hg19,9,100092903,G,T&fts=all		hmmpanther:PTHR21444,hmmpanther:PTHR21444:SF14		E/*		T	NA	3612/6851		NA		B7ZMG3_HUMAN			YES	CCDC180,stop_gained,p.Glu754Ter,ENST00000375202,;CCDC180,stop_gained,p.Glu893Ter,ENST00000357054,;CCDC180,stop_gained,p.Glu754Ter,ENST00000529487,NM_020893.2;CCDC180,stop_gained,p.Glu751Ter,ENST00000411667,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;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,non_coding_transcript_exon_variant,,ENST00000532526,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;CCDC180,non_coding_transcript_exon_variant,,ENST00000528678,;CCDC180,non_coding_transcript_exon_variant,,ENST00000530011,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;							HIGH	2260/5106	E893*	CC180_HUMAN			Transcript			.	ENSP00000364348		CCDS35077.2			1	
HERC2	0	LGGM	GRCh37	15	28491066	28491066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	21	4	.	.	ENST00000261609.7:c.3538C>T	p.Arg1180Trp	p.R1180W	ENST00000261609	NM_004667.5	1180	Cgg/Tgg	0	1	1	UPI00004578F7	0	NA	ENST00000261609		ENSG00000128731	4868		25	1.61		HGNC	p.R1180W	rs555428725	HERC2	6.09E-05	SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28491066,G,A&fts=all	A:0.0008	hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		R/W		A	low	3647/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=1125&re=1208&var=R1180W			A:0	A:0	YES	HERC2,missense_variant,p.Arg1180Trp,ENST00000261609,NM_004667.5;		A:0.0002					MODERATE	3538/14505	R1180W	HERC2_HUMAN		A:0	Transcript		probably_damaging(0.952)	.	ENSP00000261609	8.24E-06	CCDS10021.1		A:0	1	
PXDN	0	LGGM	GRCh37	2	1639271	1639271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	53	4	.	.	ENST00000252804.4:c.4229T>A	p.Leu1410His	p.L1410H	ENST00000252804	NM_012293.1	1410	cTc/cAc	0	1	1	UPI00001C1DC2	0	NA	ENST00000252804		ENSG00000130508	14966		57	1.59		HGNC	p.L1410H		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1639271,A,T&fts=all		Coiled-coils_(Ncoils):Coil		L/H		T	low	4280/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=1290&re=1414&var=L1410H	deleterious(0.01)				YES	PXDN,missense_variant,p.Leu1410His,ENST00000252804,NM_012293.1;PXDN,3_prime_UTR_variant,,ENST00000453308,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,non_coding_transcript_exon_variant,,ENST00000493654,;							MODERATE	4229/4440	L1410H	PXDN_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000252804		CCDS46221.1			1	
GNPTG	0	LGGM	GRCh37	16	1412102	1412102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	4	4	.	.	ENST00000204679.4:c.381C>A	p.Asp127Glu	p.D127E	ENST00000204679	NM_032520.4	127	gaC/gaA	0	1	1	UPI0000073F3C	0	NA	ENST00000204679		ENSG00000090581	23026		8	2.025		HGNC	p.D127E		GNPTG		SNV			1				ENST00000204679	protein_coding	getma.org/?cm=var&var=hg19,16,1412102,C,A&fts=all		hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6,Pfam_domain:PF13015,Gene3D:2.70.130.10,Superfamily_domains:SSF50911		D/E		A	medium	424/1221		getma.org/?cm=msa&ty=f&p=GNPTG_HUMAN&rb=48&re=211&var=D127E	deleterious(0.03)	Q96RZ2_HUMAN			YES	GNPTG,missense_variant,p.Asp127Glu,ENST00000204679,NM_032520.4;GNPTG,missense_variant,p.Asp150Glu,ENST00000529110,;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,;LA16c-316G12.2,upstream_gene_variant,,ENST00000569831,;UNKL,downstream_gene_variant,,ENST00000562537,;GNPTG,3_prime_UTR_variant,,ENST00000526820,;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,,ENST00000527876,;GNPTG,downstream_gene_variant,,ENST00000534197,;							MODERATE	381/918	D127E	GNPTG_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000204679		CCDS10436.1			1	
ZNF550	0	LGGM	GRCh37	19	58058657	58058657	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	23	5	.	.	ENST00000506609.2:c.832G>T	p.Glu278Ter	p.E278*	ENST00000506609		278	Gaa/Taa	0	1		UPI0000D720F6	0	NA	ENST00000325134		ENSG00000251369	28643		28	0		HGNC	p.E319X		ZNF550		SNV							ENST00000447310	protein_coding	getma.org/?cm=var&var=hg19,19,58058657,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF140,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355		E/*		A	NA	1016/3599		NA						ZNF550,stop_gained,p.Glu287Ter,ENST00000325134,;ZNF550,stop_gained,p.Glu236Ter,ENST00000344222,;ZNF550,stop_gained,p.Glu319Ter,ENST00000457177,NM_001277090.1,NM_001277093.1,NM_001277092.1,NM_001277091.1;ZNF550,stop_gained,p.Glu278Ter,ENST00000506609,;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,stop_gained,p.Glu319Ter,ENST00000447310,;ZNF550,stop_gained,p.Glu319Ter,ENST00000376230,;							HIGH	859/1173	E319*	ZN550_HUMAN			Transcript			.	ENSP00000446224					1	
CR2	0	LGGM	GRCh37	1	207643332	207643332	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	16	5	.	.	ENST00000367057.3:c.1110C>T	p.Thr370=	p.T370=	ENST00000367057	NM_001006658.2	370	acC/acT	0	1		UPI000013D4F7	0		ENST00000367058		ENSG00000117322	2336		21			HGNC	p.T370T		CR2		SNV			1				ENST00000367057	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		T		T		1299/4063								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,;							LOW	1110/3102		CR2_HUMAN			Transcript			.	ENSP00000356025		CCDS1478.1			1	
BRD7	0	LGGM	GRCh37	16	50357576	50357576	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	8	5	.	.	ENST00000394689.2:c.1365T>A	p.Tyr455Ter	p.Y455*	ENST00000394689	NM_001173984.2	455	taT/taA	0	1		UPI0000073E3C	0	NA	ENST00000394688		ENSG00000166164	14310		13	0		HGNC	p.Y455X		BRD7		SNV							ENST00000394689	protein_coding	getma.org/?cm=var&var=hg19,16,50357576,A,T&fts=all		Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12		Y/*		T	NA	1525/5370		NA		I3L4V5_HUMAN,I3L0Y7_HUMAN				BRD7,stop_gained,p.Tyr455Ter,ENST00000394688,;BRD7,stop_gained,p.Tyr455Ter,ENST00000394689,NM_001173984.2,NM_013263.4;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;							HIGH	1365/1956	Y455*	BRD7_HUMAN			Transcript			.	ENSP00000378180		CCDS10742.1			1	
ASXL1	0	LGGM	GRCh37	20	31023369	31023369	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	60	5	.	.	ENST00000375687.4:c.2854C>T	p.Pro952Ser	p.P952S	ENST00000375687	NM_015338.5	952	Cct/Tct	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		65	0.805		HGNC	p.P952S		ASXL1		SNV			1				ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31023369,C,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		P/S		T	low	3278/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=793&re=1071&var=P952S	tolerated_low_confidence(0.21)				YES	ASXL1,missense_variant,p.Pro952Ser,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Pro947Ser,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							MODERATE	2854/4626	P952S	ASXL1_HUMAN			Transcript		benign(0.004)	.	ENSP00000364839		CCDS13201.1			1	
PCDHB13	0	LGGM	GRCh37	5	140595551	140595551	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	16	5	.	.	ENST00000341948.4:c.1856C>T	p.Ala619Val	p.A619V	ENST00000341948	NM_018933.2	619	gCg/gTg	0	1	1	UPI0000047816	0	getma.org/pdb.php?prot=PCDBD_HUMAN&from=575&to=663&var=A619V	ENST00000341948		ENSG00000187372	8684		21	2.155		HGNC	p.A619V	rs782573875	PCDHB13		SNV							ENST00000341948	protein_coding	getma.org/?cm=var&var=hg19,5,140595551,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/V		T	medium	2043/3485	3.34E-05	getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=575&re=663&var=A619V	deleterious_low_confidence(0)				YES	PCDHB13,missense_variant,p.Ala619Val,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;							MODERATE	1856/2397	A619V	PCDBD_HUMAN	0.000167		Transcript		benign(0.441)	.	ENSP00000345491	2.56E-05	CCDS4255.1			1	
EFCAB12	0	LGGM	GRCh37	3	129140450	129140450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	35	5	.	.	ENST00000505956.1:c.246G>T	p.Lys82Asn	p.K82N	ENST00000505956	NM_207307.1	82	aaG/aaT	0	1		UPI00001C1DE1	0	NA	ENST00000326085		ENSG00000172771	28061		40	0.345		HGNC	p.K82N		EFCAB12		SNV							ENST00000505956	protein_coding	getma.org/?cm=var&var=hg19,3,129140450,C,A&fts=all				K/N		A	neutral	409/2153		getma.org/?cm=msa&ty=f&p=CC025_HUMAN&rb=1&re=200&var=K82N	tolerated(0.1)					EFCAB12,missense_variant,p.Lys82Asn,ENST00000505956,NM_207307.1;EFCAB12,missense_variant,p.Lys82Asn,ENST00000326085,;EFCAB12,intron_variant,,ENST00000503957,;EFCAB12,upstream_gene_variant,,ENST00000503498,;EFCAB12,upstream_gene_variant,,ENST00000514900,;							MODERATE	246/1719	K82N	EFC12_HUMAN			Transcript		benign(0.079)	.	ENSP00000324241					1	
ZNF667	0	LGGM	GRCh37	19	56953953	56953953	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	57	5	.	.	ENST00000504904.3:c.411G>T	p.Gly137=	p.G137=	ENST00000504904		137	ggG/ggT	0	1		UPI0000202CEE	0		ENST00000292069		ENSG00000198046	28854		62			HGNC	p.G137G	rs773115401	ZNF667	6.06E-05	SNV							ENST00000292069	protein_coding			hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF46		G		A		573/3832				K7ERY5_HUMAN,K7EIE0_HUMAN				ZNF667,synonymous_variant,p.=,ENST00000504904,;ZNF667,synonymous_variant,p.=,ENST00000342634,;ZNF667,synonymous_variant,p.=,ENST00000292069,NM_022103.3;ZNF667,synonymous_variant,p.=,ENST00000587555,;ZNF667,3_prime_UTR_variant,,ENST00000591790,;ZNF667,3_prime_UTR_variant,,ENST00000592189,;							LOW	411/1833		ZN667_HUMAN			Transcript			.	ENSP00000292069	8.24E-06	CCDS12944.1			1	
ASXL1	0	LGGM	GRCh37	20	31024136	31024136	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	83	5	.	.	ENST00000375687.4:c.3621C>T	p.Val1207=	p.V1207=	ENST00000375687	NM_015338.5	1207	gtC/gtT	0	1	1	UPI000036702C	0		ENST00000375687		ENSG00000171456	18318		88			HGNC	p.V1207V		ASXL1		SNV			1				ENST00000375687	protein_coding			hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		V		T		4045/7031							YES	ASXL1,synonymous_variant,p.=,ENST00000375687,NM_015338.5;ASXL1,synonymous_variant,p.=,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							LOW	3621/4626		ASXL1_HUMAN			Transcript			.	ENSP00000364839		CCDS13201.1			1	
SLC6A4	0	LGGM	GRCh37	17	28530280	28530280	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	57	5	.	.	ENST00000401766.2:c.1728C>T	p.Ile576=	p.I576=	ENST00000401766		576	atC/atT	0	1		UPI0000135493	0		ENST00000261707		ENSG00000108576	11050		62			HGNC	p.I576I		SLC6A4		SNV			1				ENST00000394821	protein_coding			Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF105,Transmembrane_helices:TMhelix		I		A		2272/4516				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				SLC6A4,synonymous_variant,p.=,ENST00000401766,;SLC6A4,synonymous_variant,p.=,ENST00000261707,NM_001045.5;SLC6A4,synonymous_variant,p.=,ENST00000394821,;RP11-354P11.4,upstream_gene_variant,,ENST00000581633,;SLC6A4,3_prime_UTR_variant,,ENST00000579221,;SLC6A4,non_coding_transcript_exon_variant,,ENST00000578609,;							LOW	1728/1893		SC6A4_HUMAN			Transcript			.	ENSP00000261707		CCDS11256.1			1	
MCAM	0	LGGM	GRCh37	11	119183710	119183710	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	13	5	.	.	ENST00000264036.4:c.560-51G>A		*187*	ENST00000264036	NM_006500.2			0	1	1	UPI000013D4A8	0		ENST00000264036		ENSG00000076706	6934		18			HGNC	p.G119E		MCAM		SNV							ENST00000392814	protein_coding							T		-/3311							YES	MCAM,missense_variant,p.Gly119Glu,ENST00000392814,;MCAM,intron_variant,,ENST00000264036,NM_006500.2;CBL,downstream_gene_variant,,ENST00000264033,NM_005188.3;MCAM,intron_variant,,ENST00000530706,;MCAM,downstream_gene_variant,,ENST00000530144,;MCAM,downstream_gene_variant,,ENST00000529295,;MCAM,upstream_gene_variant,,ENST00000528976,;MCAM,downstream_gene_variant,,ENST00000526992,;MCAM,downstream_gene_variant,,ENST00000534522,;MCAM,downstream_gene_variant,,ENST00000525555,;MCAM,downstream_gene_variant,,ENST00000529257,;MCAM,downstream_gene_variant,,ENST00000529686,;MCAM,downstream_gene_variant,,ENST00000528502,;MCAM,upstream_gene_variant,,ENST00000524940,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,intron_variant,,ENST00000528533,;MCAM,downstream_gene_variant,,ENST00000530937,;MCAM,downstream_gene_variant,,ENST00000530006,;MCAM,downstream_gene_variant,,ENST00000526190,;							MODIFIER	-/1941		MUC18_HUMAN			Transcript			.	ENSP00000264036		CCDS31690.1			1	
FAM135A	0	LGGM	GRCh37	6	71235391	71235391	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	10	5	.	.	ENST00000418814.2:c.2604C>A	p.Ser868Arg	p.S868R	ENST00000418814	NM_001162529.1	868	agC/agA	0	1		UPI0000D61481	0	NA	ENST00000370479		ENSG00000082269	21084		15	2.045		HGNC	p.S655R		FAM135A		SNV							ENST00000457062	protein_coding	getma.org/?cm=var&var=hg19,6,71235391,C,A&fts=all		hmmpanther:PTHR12482:SF12,hmmpanther:PTHR12482		S/R		A	medium	2483/5676		getma.org/?cm=msa&ty=f&p=F135A_HUMAN&rb=770&re=969&var=S868R	deleterious(0.01)					FAM135A,missense_variant,p.Ser868Arg,ENST00000418814,NM_001162529.1,NM_001105531.2;FAM135A,missense_variant,p.Ser655Arg,ENST00000370479,;FAM135A,missense_variant,p.Ser655Arg,ENST00000457062,NM_020819.4;FAM135A,missense_variant,p.Ser868Arg,ENST00000505868,;FAM135A,missense_variant,p.Ser672Arg,ENST00000361499,;FAM135A,intron_variant,,ENST00000505769,;FAM135A,downstream_gene_variant,,ENST00000515323,;FAM135A,3_prime_UTR_variant,,ENST00000194672,;FAM135A,downstream_gene_variant,,ENST00000393299,;							MODERATE	1965/3909	S868R	F135A_HUMAN			Transcript		possibly_damaging(0.471)	.	ENSP00000359510		CCDS34481.1			1	
ASXL1	0	LGGM	GRCh37	20	31023372	31023372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	60	5	.	.	ENST00000375687.4:c.2857C>T	p.Leu953Phe	p.L953F	ENST00000375687	NM_015338.5	953	Ctt/Ttt	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		65	0.345		HGNC	p.L953F	rs759572953	ASXL1	6.06E-05	SNV			1				ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31023372,C,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		L/F		T	neutral	3281/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=793&re=1071&var=L953F	deleterious_low_confidence(0)				YES	ASXL1,missense_variant,p.Leu953Phe,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Leu948Phe,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							MODERATE	2857/4626	L953F	ASXL1_HUMAN			Transcript		benign(0.05)	.	ENSP00000364839	8.24E-06	CCDS13201.1			1	
NFATC4	0	LGGM	GRCh37	14	24845597	24845597	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	36	5	.	.	ENST00000413692.2:c.2343C>G	p.Pro781=	p.P781=	ENST00000413692	NM_001198967.1	781	ccC/ccG	0	1		UPI000013CCB1	0		ENST00000250373		ENSG00000100968	7778		41			HGNC	p.P706P		NFATC4		SNV							ENST00000556169	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9		P		G		2295/4749				G3V4K1_HUMAN				NFATC4,synonymous_variant,p.=,ENST00000413692,NM_001198967.1,NM_001136022.1;NFATC4,synonymous_variant,p.=,ENST00000539237,;NFATC4,synonymous_variant,p.=,ENST00000557451,;NFATC4,synonymous_variant,p.=,ENST00000422617,NM_001288802.1;NFATC4,synonymous_variant,p.=,ENST00000424781,;NFATC4,synonymous_variant,p.=,ENST00000553708,;NFATC4,synonymous_variant,p.=,ENST00000250373,NM_004554.4;NFATC4,synonymous_variant,p.=,ENST00000555167,;NFATC4,synonymous_variant,p.=,ENST00000555453,;NFATC4,synonymous_variant,p.=,ENST00000554050,NM_001198965.1;NFATC4,synonymous_variant,p.=,ENST00000554344,;NFATC4,synonymous_variant,p.=,ENST00000556279,;NFATC4,synonymous_variant,p.=,ENST00000554591,;NFATC4,synonymous_variant,p.=,ENST00000555590,;NFATC4,synonymous_variant,p.=,ENST00000553879,NM_001198966.1;NFATC4,synonymous_variant,p.=,ENST00000554661,;NFATC4,synonymous_variant,p.=,ENST00000553469,;NFATC4,synonymous_variant,p.=,ENST00000556169,;NFATC4,synonymous_variant,p.=,ENST00000554966,;NFATC4,synonymous_variant,p.=,ENST00000555393,;NFATC4,synonymous_variant,p.=,ENST00000556759,;NFATC4,synonymous_variant,p.=,ENST00000555802,;NFATC4,synonymous_variant,p.=,ENST00000554473,;NFATC4,synonymous_variant,p.=,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,;							LOW	2154/2709		NFAC4_HUMAN			Transcript			.	ENSP00000250373		CCDS9629.1			1	
SH2D5	0	LGGM	GRCh37	1	21050742	21050742	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	14	5	.	.	ENST00000444387.2:c.633G>A	p.Lys211=	p.K211=	ENST00000444387	NM_001103161.1	211	aaG/aaA	0	1	1	UPI0000EE70C3	0		ENST00000444387		ENSG00000189410	28819		19			HGNC	p.K127K		SH2D5		SNV							ENST00000375031	protein_coding			hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF24		K		T		1031/1934				E5RJW5_HUMAN,E5RGV2_HUMAN,E5RGJ3_HUMAN			YES	SH2D5,splice_region_variant,p.=,ENST00000375031,NM_001103160.1;SH2D5,splice_region_variant,p.=,ENST00000444387,NM_001103161.1;SH2D5,downstream_gene_variant,,ENST00000517430,;SH2D5,downstream_gene_variant,,ENST00000447746,;SH2D5,downstream_gene_variant,,ENST00000519434,;SH2D5,downstream_gene_variant,,ENST00000518294,;SH2D5,splice_region_variant,,ENST00000460804,;							LOW	633/1272		SH2D5_HUMAN			Transcript			.	ENSP00000406026		CCDS44080.1			1	
OGDH	0	LGGM	GRCh37	7	44746964	44746964	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	10	6	.	.	ENST00000222673.5:c.2773G>A	p.Val925Met	p.V925M	ENST00000222673	NM_002541.3	925	Gtg/Atg	0	1	1	UPI000006D5FE	0	getma.org/pdb.php?prot=ODO1_HUMAN&from=867&to=1023&var=V925M	ENST00000222673		ENSG00000105953	8124		16	3.315		HGNC	p.V775M	COSM1549750	OGDH		SNV						1	ENST00000439616	protein_coding	getma.org/?cm=var&var=hg19,7,44746964,G,A&fts=all		PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152		V/M		A	medium	2815/4181		getma.org/?cm=msa&ty=f&p=ODO1_HUMAN&rb=867&re=1023&var=V925M	deleterious(0)	C9J4G7_HUMAN			YES	OGDH,missense_variant,p.Val925Met,ENST00000222673,NM_002541.3;OGDH,missense_variant,p.Val921Met,ENST00000449767,NM_001165036.1;OGDH,missense_variant,p.Val936Met,ENST00000447398,;OGDH,missense_variant,p.Val940Met,ENST00000444676,;OGDH,missense_variant,p.Val876Met,ENST00000543843,;OGDH,missense_variant,p.Val775Met,ENST00000439616,;					1		MODERATE	2773/3072	V925M	ODO1_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000222673		CCDS34627.1			1	
MPI	0	LGGM	GRCh37	15	75188528	75188528	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	17	6	.	.	ENST00000352410.4:c.706G>A	p.Glu236Lys	p.E236K	ENST00000352410		236	Gag/Aag	0	1	1	UPI000000DB74	0	getma.org/pdb.php?prot=MPI_HUMAN&from=6&to=382&var=E236K	ENST00000352410		ENSG00000178802	7216		23	1.225		HGNC	p.E236K	COSM964936	MPI		SNV			1			1	ENST00000566377	protein_coding	getma.org/?cm=var&var=hg19,15,75188528,G,A&fts=all		hmmpanther:PTHR10309:SF0,hmmpanther:PTHR10309,Gene3D:1pmiA02,TIGRFAM_domain:TIGR00218,Pfam_domain:PF01238,PIRSF_domain:PIRSF001480,Superfamily_domains:SSF51182		E/K		A	low	773/3066		getma.org/?cm=msa&ty=f&p=MPI_HUMAN&rb=6&re=382&var=E236K	tolerated(0.11)	H3BPU7_HUMAN,H3BPM5_HUMAN,H3BPB8_HUMAN,H3BP57_HUMAN,F5GX71_HUMAN			YES	MPI,missense_variant,p.Glu236Lys,ENST00000352410,;MPI,missense_variant,p.Glu236Lys,ENST00000566377,;MPI,missense_variant,p.Glu216Lys,ENST00000563786,NM_002435.1;MPI,missense_variant,p.Glu175Lys,ENST00000323744,;MPI,missense_variant,p.Glu186Lys,ENST00000535694,;MPI,missense_variant,p.Glu236Lys,ENST00000563422,;MPI,missense_variant,p.Glu125Lys,ENST00000564003,;MPI,missense_variant,p.Glu162Lys,ENST00000567177,;MPI,missense_variant,p.Glu216Lys,ENST00000562606,;MPI,missense_variant,p.Glu216Lys,ENST00000569931,;MPI,intron_variant,,ENST00000562800,;FAM219B,downstream_gene_variant,,ENST00000357635,NM_020447.3;FAM219B,downstream_gene_variant,,ENST00000563119,;MPI,downstream_gene_variant,,ENST00000565576,;MPI,downstream_gene_variant,,ENST00000567570,;MPI,downstream_gene_variant,,ENST00000564633,;MPI,downstream_gene_variant,,ENST00000568828,;MPI,downstream_gene_variant,,ENST00000567132,;MPI,downstream_gene_variant,,ENST00000569233,;MPI,downstream_gene_variant,,ENST00000568907,;CTD-2235H24.2,upstream_gene_variant,,ENST00000564692,;FAM219B,downstream_gene_variant,,ENST00000564723,;MPI,3_prime_UTR_variant,,ENST00000561470,;MPI,non_coding_transcript_exon_variant,,ENST00000566556,;FAM219B,downstream_gene_variant,,ENST00000566894,;FAM219B,downstream_gene_variant,,ENST00000569524,;MPI,downstream_gene_variant,,ENST00000568840,;FAM219B,downstream_gene_variant,,ENST00000563671,;FAM219B,downstream_gene_variant,,ENST00000566132,;MPI,downstream_gene_variant,,ENST00000567116,;					1		MODERATE	706/1272	E236K	MPI_HUMAN			Transcript		benign(0.005)	.	ENSP00000318318		CCDS10272.1			1	
COL4A4	0	LGGM	GRCh37	2	227967886	227967886	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	31	6	.	.	ENST00000396625.3:c.844G>A	p.Gly282Arg	p.G282R	ENST00000396625	NM_000092.4	282	Gga/Aga	0	1	1	UPI000013D987	0	NA	ENST00000396625		ENSG00000081052	2206		37	4.165		HGNC	p.G282R		COL4A4		SNV			1				ENST00000329662	protein_coding	getma.org/?cm=var&var=hg19,2,227967886,C,T&fts=all		hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021		G/R		T	high	1052/9895		getma.org/?cm=msa&ty=f&p=CO4A4_HUMAN&rb=239&re=295&var=G282R					YES	COL4A4,missense_variant,p.Gly282Arg,ENST00000396625,NM_000092.4;COL4A4,missense_variant,p.Gly282Arg,ENST00000329662,;							MODERATE	844/5073	G282R	CO4A4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000379866		CCDS42828.1			1	
SLC27A6	0	LGGM	GRCh37	5	128321004	128321004	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	23	6	.	.	ENST00000262462.4:c.660T>A	p.Leu220=	p.L220=	ENST00000262462		220	ctT/ctA	0	1	1	UPI0000038E83	0		ENST00000262462		ENSG00000113396	11000		29			HGNC	p.L220L		SLC27A6		SNV							ENST00000262462	protein_coding			hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801		L		A		1670/3219				D6RAJ2_HUMAN			YES	SLC27A6,synonymous_variant,p.=,ENST00000262462,;SLC27A6,synonymous_variant,p.=,ENST00000395266,NM_001017372.1,NM_014031.3;SLC27A6,synonymous_variant,p.=,ENST00000506176,;SLC27A6,synonymous_variant,p.=,ENST00000508645,;							LOW	660/1860		S27A6_HUMAN			Transcript			.	ENSP00000262462		CCDS4145.1			1	
PDZRN4	0	LGGM	GRCh37	12	41966905	41966905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	57	7	.	.	ENST00000402685.2:c.2324C>T	p.Thr775Ile	p.T775I	ENST00000402685	NM_001164595.1	775	aCa/aTa	0	1	1	UPI0000D621D0	0	NA	ENST00000402685		ENSG00000165966	30552		64	2.015		HGNC	p.T517I		PDZRN4		SNV							ENST00000539469	protein_coding	getma.org/?cm=var&var=hg19,12,41966905,C,T&fts=all		hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,Low_complexity_(Seg):seg		T/I		T	medium	2332/3347		getma.org/?cm=msa&ty=f&p=PZRN4_HUMAN&rb=685&re=884&var=T775I	tolerated(0.12)	B3KT02_HUMAN			YES	PDZRN4,missense_variant,p.Thr515Ile,ENST00000298919,;PDZRN4,missense_variant,p.Thr775Ile,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Thr517Ile,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							MODERATE	2324/3111	T775I	PZRN4_HUMAN			Transcript		benign(0.295)	.	ENSP00000384197		CCDS53777.1			1	
AK9	0	LGGM	GRCh37	6	109931608	109931608	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	70	7	.	.	ENST00000424296.2:c.1802A>G	p.Tyr601Cys	p.Y601C	ENST00000424296	NM_001145128.2	601	tAt/tGt	0	1	1	UPI0001A48FC8	0	NA	ENST00000424296		ENSG00000155085	33814		77	0.805		HGNC	p.Y601C	rs769656586	AK9		SNV							ENST00000368948	protein_coding	getma.org/?cm=var&var=hg19,6,109931608,T,C&fts=all		hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF61,Superfamily_domains:SSF52540		Y/C		C	low	1879/6326	0.000107	getma.org/?cm=msa&ty=f&p=AKD1_HUMAN&rb=452&re=651&var=Y601C	tolerated(0.14)	E9PPU7_HUMAN,E9PPM3_HUMAN			YES	AK9,missense_variant,p.Tyr601Cys,ENST00000424296,NM_001145128.2;AK9,missense_variant,p.Tyr601Cys,ENST00000368948,;AK9,5_prime_UTR_variant,,ENST00000341338,;AK9,non_coding_transcript_exon_variant,,ENST00000466992,;							MODERATE	1802/5736	Y601C	KAD9_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000410186	4.00E-05	CCDS55048.1			1	
BCAP29	0	LGGM	GRCh37	7	107234511	107234511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	36	7	.	.	ENST00000379119.2:c.305G>T	p.Arg102Ile	p.R102I	ENST00000379119	NM_001008405.2	102	aGa/aTa	0	1		UPI0000126732	0	NA	ENST00000005259		ENSG00000075790	24131		43	3.125		HGNC	p.R102I	COSM1447148	BCAP29		SNV						1	ENST00000442065	protein_coding	getma.org/?cm=var&var=hg19,7,107234511,G,T&fts=all		Pfam_domain:PF05529,hmmpanther:PTHR12701,hmmpanther:PTHR12701:SF5		R/I		T	medium	644/4572		getma.org/?cm=msa&ty=f&p=BAP29_HUMAN&rb=1&re=220&var=R102I	deleterious(0)	E9PAJ1_HUMAN,C9JTE9_HUMAN,C9JP06_HUMAN,C9JGJ9_HUMAN,C9IYK6_HUMAN,B7Z2L0_HUMAN				BCAP29,missense_variant,p.Arg102Ile,ENST00000379119,NM_001008405.2;BCAP29,missense_variant,p.Arg102Ile,ENST00000005259,NM_018844.3;BCAP29,missense_variant,p.Arg102Ile,ENST00000379117,;BCAP29,missense_variant,p.Arg102Ile,ENST00000445771,;BCAP29,missense_variant,p.Arg8Ile,ENST00000379121,;BCAP29,missense_variant,p.Arg16Ile,ENST00000436699,;BCAP29,missense_variant,p.Arg102Ile,ENST00000457837,;BCAP29,missense_variant,p.Arg8Ile,ENST00000465919,;BCAP29,missense_variant,p.Arg59Ile,ENST00000491150,;BCAP29,missense_variant,p.Arg102Ile,ENST00000479917,;BCAP29,missense_variant,p.Arg102Ile,ENST00000421217,;BCAP29,non_coding_transcript_exon_variant,,ENST00000494086,;BCAP29,missense_variant,p.Arg102Ile,ENST00000442065,;BCAP29,non_coding_transcript_exon_variant,,ENST00000486326,;BCAP29,intron_variant,,ENST00000482371,;BCAP29,upstream_gene_variant,,ENST00000490060,;					1		MODERATE	305/726	R102I	BAP29_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000005259		CCDS34731.1			1	
DENND2A	0	LGGM	GRCh37	7	140301428	140301428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	55	7	.	.	ENST00000275884.6:c.770C>T	p.Ser257Phe	p.S257F	ENST00000275884		257	tCc/tTc	0	1	1	UPI00001C1E63	0	NA	ENST00000275884		ENSG00000146966	22212		62	1.24		HGNC	p.S257F	COSM3922835,COSM3922836	DENND2A		SNV						1,1	ENST00000461883	protein_coding	getma.org/?cm=var&var=hg19,7,140301428,G,A&fts=all		hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288		S/F		A	low	1188/3735		getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=201&re=400&var=S257F	tolerated(0.28)	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN			YES	DENND2A,missense_variant,p.Ser257Phe,ENST00000275884,;DENND2A,missense_variant,p.Ser257Phe,ENST00000492720,;DENND2A,missense_variant,p.Ser257Phe,ENST00000496613,;DENND2A,missense_variant,p.Ser257Phe,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.Ser257Phe,ENST00000461883,;					1,1		MODERATE	770/3030	S257F	DEN2A_HUMAN			Transcript		benign(0.035)	.	ENSP00000275884		CCDS43659.1			1	
ARHGEF26	0	LGGM	GRCh37	3	153909110	153909110	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	63	7	.	.	ENST00000356448.4:c.1673C>T	p.Ser558Leu	p.S558L	ENST00000356448	NM_001251962.1	558	tCa/tTa	0	1	1	UPI00001410D0	0	getma.org/pdb.php?prot=ARHGQ_HUMAN&from=443&to=622&var=S558L	ENST00000356448		ENSG00000114790	24490		70	1.175		HGNC	p.S558L		ARHGEF26		SNV							ENST00000465093	protein_coding	getma.org/?cm=var&var=hg19,3,153909110,C,T&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,SMART_domains:SM00325,Superfamily_domains:SSF48065		S/L		T	low	1957/5254		getma.org/?cm=msa&ty=f&p=ARHGQ_HUMAN&rb=443&re=622&var=S558L	deleterious(0.02)				YES	ARHGEF26,missense_variant,p.Ser558Leu,ENST00000356448,NM_001251962.1;ARHGEF26,missense_variant,p.Ser558Leu,ENST00000465093,NM_015595.3,NM_001251963.1;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,missense_variant,p.Ser558Leu,ENST00000496710,;							MODERATE	1673/2616	S558L	ARHGQ_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000348828		CCDS46938.1			1	
ZNF329	0	LGGM	GRCh37	19	58639289	58639289	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	41	7	.	.	ENST00000598312.1:c.1582C>A	p.Arg528=	p.R528=	ENST00000598312	NM_024620.3	528	Cga/Aga	0	1		UPI0000246E79	0		ENST00000358067		ENSG00000181894	14209		48			HGNC	p.R528R		ZNF329		SNV							ENST00000597186	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF118,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		T		1789/3381				M0R136_HUMAN				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,;							LOW	1582/1626		ZN329_HUMAN			Transcript			.	ENSP00000350773		CCDS12972.1			1	
TDRD15	0	LGGM	GRCh37	2	21362947	21362947	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	131	7	.	.	ENST00000405799.1:c.2608G>C	p.Glu870Gln	p.E870Q	ENST00000405799		870	Gag/Cag	0	1	1	UPI000173A3F5	0		ENST00000405799		ENSG00000218819	45037		138			HGNC	p.E870Q		TDRD15		SNV							ENST00000405799	protein_coding			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF2		E/Q		C		2938/6135			deleterious(0.02)				YES	TDRD15,missense_variant,p.Glu870Gln,ENST00000405799,;							MODERATE	2608/5805		TDR15_HUMAN			Transcript		benign(0.216)	.	ENSP00000384376					1	
DHX9	0	LGGM	GRCh37	1	182827336	182827336	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	17	7	.	.	ENST00000367549.3:c.771A>G	p.Glu257=	p.E257=	ENST00000367549	NM_001357.4	257	gaA/gaG	0	1	1	UPI00001AEF15	0		ENST00000367549		ENSG00000135829	2750		24			HGNC	p.E257E		DHX9		SNV							ENST00000367549	protein_coding			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF84,Superfamily_domains:SSF54768		E		G		881/4240							YES	DHX9,synonymous_variant,p.=,ENST00000367549,NM_001357.4;DHX9,downstream_gene_variant,,ENST00000483416,;DHX9,upstream_gene_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000479271,;							LOW	771/3813		DHX9_HUMAN			Transcript			.	ENSP00000356520		CCDS41444.1			1	
TTC7B	0	LGGM	GRCh37	14	91196468	91196468	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	30	7	.	.	ENST00000328459.6:c.649T>G	p.Phe217Val	p.F217V	ENST00000328459	NM_001010854.1	217	Ttc/Gtc	0	1	1	UPI00001FD9F0	0	NA	ENST00000328459		ENSG00000165914	19858		37	0.975		HGNC	p.F115V		TTC7B		SNV							ENST00000557766	protein_coding	getma.org/?cm=var&var=hg19,14,91196468,A,C&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR23083:SF365,hmmpanther:PTHR23083		F/V		C	low	771/3433		getma.org/?cm=msa&ty=f&p=TTC7B_HUMAN&rb=201&re=368&var=F217V	deleterious(0.05)	G3V3E4_HUMAN,B3KX34_HUMAN			YES	TTC7B,missense_variant,p.Phe217Val,ENST00000357056,;TTC7B,missense_variant,p.Phe217Val,ENST00000328459,NM_001010854.1;TTC7B,missense_variant,p.Phe115Val,ENST00000557766,;							MODERATE	649/2532	F217V	TTC7B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000336127		CCDS32140.1			1	
NFIA	0	LGGM	GRCh37	1	61554233	61554233	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	34	7	.	.	ENST00000371189.4:c.575G>A	p.Gly192Asp	p.G192D	ENST00000371189	NM_001145512.1	192	gGc/gAc	0	1		UPI000003B474	0	NA	ENST00000403491		ENSG00000162599	7784		41	2.19		HGNC	p.G147D		NFIA		SNV			1				ENST00000485903	protein_coding	getma.org/?cm=var&var=hg19,1,61554233,G,A&fts=all		Pfam_domain:PF03165,PROSITE_profiles:PS51080,hmmpanther:PTHR11492,SMART_domains:SM00523		G/D		A	medium	924/9487		getma.org/?cm=msa&ty=f&p=NFIA_HUMAN&rb=68&re=172&var=G147D	deleterious(0)	S4R3K4_HUMAN				NFIA,missense_variant,p.Gly147Asp,ENST00000403491,NM_001134673.3,NM_005595.4;NFIA,missense_variant,p.Gly147Asp,ENST00000371187,;NFIA,missense_variant,p.Gly139Asp,ENST00000407417,NM_001145511.1;NFIA,missense_variant,p.Gly192Asp,ENST00000371189,NM_001145512.1;NFIA,missense_variant,p.Gly170Asp,ENST00000371191,;NFIA,missense_variant,p.Gly147Asp,ENST00000371185,;NFIA,missense_variant,p.Gly147Asp,ENST00000485903,;NFIA,missense_variant,p.Gly147Asp,ENST00000371184,;NFIA,missense_variant,p.Gly100Asp,ENST00000476646,;NFIA,missense_variant,p.Gly51Asp,ENST00000496712,;NFIA,intron_variant,,ENST00000479364,;							MODERATE	440/1530	G147D	NFIA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000384523		CCDS44156.1			1	
CBFA2T2	0	LGGM	GRCh37	20	32212733	32212733	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	52	8	.	.	ENST00000346541.3:c.883A>G	p.Thr295Ala	p.T295A	ENST00000346541	NM_005093.3	295	Acc/Gcc	0	1	1	UPI0000073E07	0	NA	ENST00000346541		ENSG00000078699	1536		60	0		HGNC	p.T266A		CBFA2T2		SNV							ENST00000397800	protein_coding	getma.org/?cm=var&var=hg19,20,32212733,A,G&fts=all		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13		T/A		G	neutral	1420/7737		getma.org/?cm=msa&ty=f&p=MTG8R_HUMAN&rb=209&re=330&var=T295A	tolerated(0.38)	Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN			YES	CBFA2T2,missense_variant,p.Thr266Ala,ENST00000492345,;CBFA2T2,missense_variant,p.Thr295Ala,ENST00000346541,NM_005093.3;CBFA2T2,missense_variant,p.Thr295Ala,ENST00000375279,;CBFA2T2,missense_variant,p.Thr266Ala,ENST00000397800,NM_001039709.1;CBFA2T2,missense_variant,p.Thr305Ala,ENST00000359606,;CBFA2T2,missense_variant,p.Thr286Ala,ENST00000342704,NM_001032999.2;CBFA2T2,downstream_gene_variant,,ENST00000397798,;CBFA2T2,downstream_gene_variant,,ENST00000344201,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000491618,;							MODERATE	883/1815	T295A	MTG8R_HUMAN			Transcript		benign(0.005)	.	ENSP00000262653		CCDS13221.1			1	
CRYBB2	0	LGGM	GRCh37	22	25623839	25623839	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	19	8	.	.	ENST00000398215.2:c.193G>A	p.Ala65Thr	p.A65T	ENST00000398215	NM_000496.2	65	Gcc/Acc	0	1	1	UPI000013C6A2	0	getma.org/pdb.php?prot=CRBB2_HUMAN&from=18&to=100&var=A65T	ENST00000398215		ENSG00000244752	2398		27	0.535		HGNC	p.A65T		CRYBB2		SNV			1				ENST00000398215	protein_coding	getma.org/?cm=var&var=hg19,22,25623839,G,A&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF11,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367		A/T		A	neutral	364/886		getma.org/?cm=msa&ty=f&p=CRBB2_HUMAN&rb=18&re=100&var=A65T	tolerated(0.6)	R4UMM2_HUMAN			YES	CRYBB2,missense_variant,p.Ala65Thr,ENST00000398215,NM_000496.2;							MODERATE	193/618	A65T	CRBB2_HUMAN			Transcript		benign(0.003)	.	ENSP00000381273		CCDS13831.1			1	
YARS	0	LGGM	GRCh37	1	33276565	33276565	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	91	9	.	.	ENST00000373477.4:c.151G>C	p.Ala51Pro	p.A51P	ENST00000373477	NM_003680.3	51	Gct/Cct	0	1	1	UPI0000136762	0	getma.org/pdb.php?prot=SYYC_HUMAN&from=31&to=322&var=A51P	ENST00000373477		ENSG00000134684	12840		100	2.75		HGNC	p.A51P		YARS		SNV			1				ENST00000373477	protein_coding	getma.org/?cm=var&var=hg19,1,33276565,C,G&fts=all		Gene3D:3.40.50.620,Pfam_domain:PF00579,Prints_domain:PR01040,Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00234		A/P		G	medium	1060/3238		getma.org/?cm=msa&ty=f&p=SYYC_HUMAN&rb=31&re=322&var=A51P	deleterious(0)				YES	YARS,missense_variant,p.Ala51Pro,ENST00000373477,NM_003680.3;YARS,non_coding_transcript_exon_variant,,ENST00000481895,;YARS,non_coding_transcript_exon_variant,,ENST00000472692,;YARS,upstream_gene_variant,,ENST00000470377,;							MODERATE	151/1587	A51P	SYYC_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000362576		CCDS368.1			1	
S100G	0	LGGM	GRCh37	X	16669212	16669212	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	44	9	.	.	ENST00000380200.3:c.83C>T	p.Ser28Leu	p.S28L	ENST00000380200	NM_004057.2	28	tCa/tTa	0	1	1	UPI0000167B2D	0		ENST00000380200		ENSG00000169906	1436		53			HGNC	p.S28L		S100G		SNV							ENST00000380200	protein_coding			hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF67,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		S/L		T		137/455			deleterious(0)				YES	S100G,missense_variant,p.Ser28Leu,ENST00000380200,NM_004057.2;CTPS2,intron_variant,,ENST00000443824,NM_001144002.1;CTPS2,intron_variant,,ENST00000359276,NM_175859.1;CTPS2,intron_variant,,ENST00000380241,NM_019857.3;CTPS2,intron_variant,,ENST00000455276,;							MODERATE	83/240		S100G_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000369547		CCDS14176.1			1	
MUC17	0	LGGM	GRCh37	7	100682102	100682102	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	142	9	.	.	ENST00000306151.4:c.7405G>T	p.Val2469Phe	p.V2469F	ENST00000306151	NM_001040105.1	2469	Gtc/Ttc	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		151	0.345		HGNC	p.V2469F		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100682102,G,T&fts=all		Low_complexity_(Seg):seg		V/F		T	neutral	7469/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=V2469F		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Val2469Phe,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Val2469Phe,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;							MODERATE	7405/13482	V2469F	MUC17_HUMAN			Transcript		benign(0.116)	.	ENSP00000302716		CCDS34711.1			1	
MDGA2	0	LGGM	GRCh37	14	47343310	47343310	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	41	9	.	.	ENST00000426342.1:c.1637C>A	p.Thr546Lys	p.T546K	ENST00000426342	NM_182830.4	546	aCa/aAa	0	1		UPI00001C14FF	0	getma.org/pdb.php?prot=MDGA2_HUMAN&from=748&to=921&var=T775K	ENST00000399232		ENSG00000139915	19835		50	3.31		HGNC	p.T546K		MDGA2		SNV							ENST00000426342	protein_coding	getma.org/?cm=var&var=hg19,14,47343310,G,T&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50060		T/K		T	medium	2689/5075		getma.org/?cm=msa&ty=f&p=MDGA2_HUMAN&rb=748&re=921&var=T775K	deleterious(0.02)	F8WE89_HUMAN				MDGA2,missense_variant,p.Thr546Lys,ENST00000426342,NM_182830.4;MDGA2,missense_variant,p.Thr775Lys,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Thr844Lys,ENST00000439988,;MDGA2,missense_variant,p.Thr546Lys,ENST00000357362,;MDGA2,5_prime_UTR_variant,,ENST00000399222,;MDGA2,3_prime_UTR_variant,,ENST00000557238,;MDGA2,non_coding_transcript_exon_variant,,ENST00000555521,;MDGA2,non_coding_transcript_exon_variant,,ENST00000557516,;							MODERATE	2324/2871	T775K	MDGA2_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000382178		CCDS45098.3			1	
PER3	0	LGGM	GRCh37	1	7887378	7887378	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	14	9	.	.	ENST00000361923.2:c.2365G>T	p.Ala789Ser	p.A789S	ENST00000361923	NM_016831.1	789	Gcc/Tcc	0	1	1	UPI0000167B1D	0	NA	ENST00000361923		ENSG00000049246	8847		23	0.895		HGNC	p.A789S		PER3		SNV							ENST00000361923	protein_coding	getma.org/?cm=var&var=hg19,1,7887378,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		A/S		T	low	2540/6203		getma.org/?cm=msa&ty=f&p=PER3_HUMAN&rb=775&re=974&var=A789S	tolerated(0.81)	Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,missense_variant,p.Ala797Ser,ENST00000377532,;PER3,missense_variant,p.Ala789Ser,ENST00000361923,NM_016831.1;RP3-467L1.4,non_coding_transcript_exon_variant,,ENST00000451646,;							MODERATE	2365/3606	A789S	PER3_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000355031		CCDS89.1			1	
RBM14	0	LGGM	GRCh37	11	66392781	66392781	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	27	10	.	.	ENST00000310137.4:c.1434A>G	p.Ala478=	p.A478=	ENST00000310137	NM_006328.3	478	gcA/gcG	0	1	1	UPI0000073D46	0		ENST00000310137		ENSG00000239306	14219		37			HGNC	p.A478A		RBM14		SNV							ENST00000310137	protein_coding					A		G		1573/2828				B4DNG4_HUMAN			YES	RBM14,synonymous_variant,p.=,ENST00000310137,NM_006328.3;RBM4,intron_variant,,ENST00000503028,;RBM14-RBM4,intron_variant,,ENST00000412278,NM_001198845.1;RBM4,intron_variant,,ENST00000514361,;RBM14,intron_variant,,ENST00000393979,NM_001198836.1;RBM14-RBM4,intron_variant,,ENST00000500635,NM_001198846.1;RBM14,intron_variant,,ENST00000409738,NM_001198837.1;RBM14,downstream_gene_variant,,ENST00000409372,;RBM14,downstream_gene_variant,,ENST00000443702,;RBM14-RBM4,intron_variant,,ENST00000511114,;RBM14,downstream_gene_variant,,ENST00000461478,;RBM14,downstream_gene_variant,,ENST00000496694,;RBM14-RBM4,intron_variant,,ENST00000421355,;							LOW	1434/2010		RBM14_HUMAN			Transcript			.	ENSP00000311747		CCDS8147.1			1	
PPP1R21	0	LGGM	GRCh37	2	48738607	48738607	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	44	10	.	.	ENST00000294952.8:c.2313G>A	p.Lys771=	p.K771=	ENST00000294952	NM_001135629.2	771	aaG/aaA	0	1	1	UPI000015C523	0		ENST00000294952		ENSG00000162869	30595		54			HGNC	p.K771K		PPP1R21		SNV							ENST00000294952	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21448,Pfam_domain:PF10212		K		A		2470/3142				F8W7E1_HUMAN			YES	PPP1R21,splice_region_variant,p.=,ENST00000294952,NM_001135629.2;PPP1R21,splice_region_variant,p.=,ENST00000281394,NM_001193475.1,NM_152994.4;PPP1R21,splice_region_variant,p.=,ENST00000449090,;PPP1R21,splice_region_variant,,ENST00000476199,;PPP1R21,splice_region_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;							LOW	2313/2343		PPR21_HUMAN			Transcript			.	ENSP00000294952		CCDS46278.1			1	
EML5	0	LGGM	GRCh37	14	89212532	89212532	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	26	10	.	.	ENST00000554922.1:c.453T>C	p.Asp151=	p.D151=	ENST00000554922	NM_183387.2	151	gaT/gaC	0	1		UPI000183882B	0		ENST00000380664		ENSG00000165521	18197		36			HGNC	p.D151D	rs765654645	EML5		SNV							ENST00000352093	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,SMART_domains:SM00320,Superfamily_domains:SSF50978		D		G		453/5910								EML5,synonymous_variant,p.=,ENST00000554922,NM_183387.2;EML5,synonymous_variant,p.=,ENST00000352093,;EML5,synonymous_variant,p.=,ENST00000380664,;	0.000116						LOW	453/5910		EMAL5_HUMAN			Transcript			.	ENSP00000370039	8.28E-06				1	
PI4KA	0	LGGM	GRCh37	22	21173972	21173972	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	28	10	.	.	ENST00000255882.6:c.746G>C	p.Gly249Ala	p.G249A	ENST00000255882	NM_058004.3	249	gGt/gCt	0	1	1	UPI0000E06BD6	0	NA	ENST00000255882		ENSG00000241973	8983		38	0.69		HGNC	p.G249A		PI4KA		SNV							ENST00000255882	protein_coding	getma.org/?cm=var&var=hg19,22,21173972,C,G&fts=all		Superfamily_domains:SSF48371		G/A		G	neutral	833/6752		getma.org/?cm=msa&ty=f&p=PI4KA_HUMAN&rb=1&re=200&var=G191A	tolerated(0.25)	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN			YES	PI4KA,missense_variant,p.Gly249Ala,ENST00000255882,NM_058004.3;PI4KA,missense_variant,p.Gly191Ala,ENST00000572273,;PI4KA,downstream_gene_variant,,ENST00000449120,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485963,;							MODERATE	746/6309	G191A				Transcript		benign(0.004)	.	ENSP00000255882		CCDS33603.2			1	
TMEM161B	0	LGGM	GRCh37	5	87521622	87521622	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	47	10	.	.	ENST00000296595.6:c.253C>G	p.Leu85Val	p.L85V	ENST00000296595	NM_153354.3	85	Cta/Gta	0	1	1	UPI000007229D	0	NA	ENST00000296595		ENSG00000164180	28483		57	2.395		HGNC	p.L85V	COSM3381344	TMEM161B		SNV						1	ENST00000296595	protein_coding	getma.org/?cm=var&var=hg19,5,87521622,G,C&fts=all		Pfam_domain:PF10268,hmmpanther:PTHR13624,hmmpanther:PTHR13624:SF3		L/V		C	medium	378/2594		getma.org/?cm=msa&ty=f&p=T161B_HUMAN&rb=2&re=487&var=L85V	deleterious(0)	D6RBE8_HUMAN,B7Z6T3_HUMAN			YES	TMEM161B,missense_variant,p.Leu85Val,ENST00000296595,NM_153354.3;TMEM161B,missense_variant,p.Leu85Val,ENST00000514135,;TMEM161B,missense_variant,p.Leu74Val,ENST00000512429,;TMEM161B,5_prime_UTR_variant,,ENST00000506536,;TMEM161B,5_prime_UTR_variant,,ENST00000509387,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000515477,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000513487,;TMEM161B,intron_variant,,ENST00000503755,;TMEM161B,downstream_gene_variant,,ENST00000503943,;TMEM161B,downstream_gene_variant,,ENST00000503194,;TMEM161B,missense_variant,p.Leu85Val,ENST00000511087,;TMEM161B,missense_variant,p.Leu85Val,ENST00000507872,;TMEM161B,5_prime_UTR_variant,,ENST00000510089,;					1		MODERATE	253/1464	L85V	T161B_HUMAN			Transcript		benign(0.44)	.	ENSP00000296595		CCDS4065.1			1	
PARP6	0	LGGM	GRCh37	15	72559129	72559129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	12	11	.	.	ENST00000569795.1:c.38C>T	p.Ser13Leu	p.S13L	ENST00000569795		13	tCg/tTg	0	1		UPI000067DA73	0	NA	ENST00000287196		ENSG00000137817	26921		23	0.975		HGNC	p.S13L		PARP6		SNV							ENST00000419739	protein_coding	getma.org/?cm=var&var=hg19,15,72559129,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF23		S/L		A	low	497/2625		getma.org/?cm=msa&ty=f&p=PARP6_HUMAN&rb=1&re=200&var=S13L	deleterious_low_confidence(0)	H3BUY2_HUMAN,H3BTI3_HUMAN				PARP6,missense_variant,p.Ser13Leu,ENST00000569795,;PARP6,missense_variant,p.Ser13Leu,ENST00000287196,NM_020214.2;PARP6,missense_variant,p.Ser13Leu,ENST00000260376,;PARP6,missense_variant,p.Ser13Leu,ENST00000419739,;PARP6,missense_variant,p.Ser13Leu,ENST00000566844,;PARP6,missense_variant,p.Ser13Leu,ENST00000568360,;PARP6,upstream_gene_variant,,ENST00000567974,;PARP6,non_coding_transcript_exon_variant,,ENST00000413097,;PARP6,non_coding_transcript_exon_variant,,ENST00000544520,;PARP6,downstream_gene_variant,,ENST00000567633,;PARP6,missense_variant,p.Ser13Leu,ENST00000565443,;PARP6,missense_variant,p.Ser13Leu,ENST00000567440,;CELF6,3_prime_UTR_variant,,ENST00000569547,;PARP6,upstream_gene_variant,,ENST00000564610,;PARP6,upstream_gene_variant,,ENST00000565999,;							MODERATE	38/1893	S13L	PARP6_HUMAN			Transcript		possibly_damaging(0.596)	.	ENSP00000287196		CCDS10241.2			1	
OR4P4	0	LGGM	GRCh37	11	55405869	55405869	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	44	11	.	.	ENST00000314612.2:c.36C>T	p.Leu12=	p.L12=	ENST00000314612	NM_001004124.1	12	ctC/ctT	0	1	1	UPI0000061E8A	0		ENST00000314612		ENSG00000181927	15180		55			HGNC	p.L12L		OR4P4		SNV							ENST00000314612	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,Superfamily_domains:SSF81321		L		T		36/939							YES	OR4P4,synonymous_variant,p.=,ENST00000314612,NM_001004124.1;							LOW	36/939		OR4P4_HUMAN			Transcript			.	ENSP00000324831		CCDS31504.1			1	
OR4P4	0	LGGM	GRCh37	11	55405868	55405868	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	44	11	.	.	ENST00000314612.2:c.35T>C	p.Leu12Pro	p.L12P	ENST00000314612	NM_001004124.1	12	cTc/cCc	0	1	1	UPI0000061E8A	0	NA	ENST00000314612		ENSG00000181927	15180		55	3.835		HGNC	p.L12P		OR4P4		SNV							ENST00000314612	protein_coding	getma.org/?cm=var&var=hg19,11,55405868,T,C&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,Superfamily_domains:SSF81321		L/P		C	high	35/939		getma.org/?cm=msa&ty=f&p=OR4P4_HUMAN&rb=1&re=136&var=L12P	deleterious(0.03)				YES	OR4P4,missense_variant,p.Leu12Pro,ENST00000314612,NM_001004124.1;							MODERATE	35/939	L12P	OR4P4_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000324831		CCDS31504.1			1	
ABCC6	0	LGGM	GRCh37	16	16315542	16315542	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	14	11	.	.	ENST00000205557.7:c.183C>A	p.Gly61=	p.G61=	ENST00000205557	NM_001171.5	61	ggC/ggA	0	1	1	UPI00001AE5CA	0		ENST00000205557		ENSG00000091262	57		25			HGNC	p.G61G		ABCC6		SNV			1				ENST00000456970	protein_coding			hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,TIGRFAM_domain:TIGR00957		G		T		213/5747							YES	ABCC6,synonymous_variant,p.=,ENST00000205557,NM_001171.5;ABCC6,synonymous_variant,p.=,ENST00000575728,NM_001079528.3;RP11-517A5.7,upstream_gene_variant,,ENST00000574883,;ABCC6,non_coding_transcript_exon_variant,,ENST00000574094,;ABCC6,synonymous_variant,p.=,ENST00000456970,;ABCC6,synonymous_variant,p.=,ENST00000577103,;							LOW	183/4512		MRP6_HUMAN			Transcript			.	ENSP00000205557		CCDS10568.1			1	
PRKDC	0	LGGM	GRCh37	8	48792109	48792109	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	8	11	.	.	ENST00000314191.2:c.5175C>A	p.Ser1725=	p.S1725=	ENST00000314191	NM_006904.6	1725	tcC/tcA	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		19			HGNC	p.S1725S		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371		S		T		5232/13506				F5GX40_HUMAN			YES	PRKDC,synonymous_variant,p.=,ENST00000314191,NM_006904.6;PRKDC,synonymous_variant,p.=,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;							LOW	5175/12384		PRKDC_HUMAN			Transcript			.	ENSP00000313420					1	
ATL1	0	LGGM	GRCh37	14	51095017	51095017	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	12	12	.	.	ENST00000358385.6:c.1388G>T	p.Gly463Val	p.G463V	ENST00000358385	NM_015915.4	463	gGt/gTt	0	1	1	UPI0000073893	0	NA	ENST00000358385		ENSG00000198513	11231		24	2.585		HGNC	p.G45V		ATL1		SNV			1				ENST00000556067	protein_coding	getma.org/?cm=var&var=hg19,14,51095017,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751		G/V		T	medium	1629/2647		getma.org/?cm=msa&ty=f&p=ATLA1_HUMAN&rb=315&re=514&var=G463V	deleterious(0.03)	G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN			YES	ATL1,missense_variant,p.Gly463Val,ENST00000441560,NM_001127713.1;ATL1,missense_variant,p.Gly463Val,ENST00000358385,NM_015915.4;ATL1,missense_variant,p.Gly463Val,ENST00000357032,;ATL1,missense_variant,p.Gly463Val,ENST00000354525,NM_181598.3;SAV1,downstream_gene_variant,,ENST00000555720,;ATL1,missense_variant,p.Gly45Val,ENST00000556067,;ATL1,downstream_gene_variant,,ENST00000555266,;							MODERATE	1388/1677	G463V	ATLA1_HUMAN			Transcript		benign(0.014)	.	ENSP00000351155		CCDS9700.1			1	
MAGEF1	0	LGGM	GRCh37	3	184429360	184429360	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	37	12	.	.	ENST00000317897.3:c.250G>T	p.Val84Leu	p.V84L	ENST00000317897	NM_022149.4	84	Gtg/Ttg	0	1	1	UPI0000140198	0	getma.org/pdb.php?prot=MAGF1_HUMAN&from=83&to=254&var=V84L	ENST00000317897		ENSG00000177383	29639		49	2.22		HGNC	p.V84L		MAGEF1		SNV							ENST00000317897	protein_coding	getma.org/?cm=var&var=hg19,3,184429360,C,A&fts=all		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF61,Pfam_domain:PF01454		V/L		A	medium	477/1681		getma.org/?cm=msa&ty=f&p=MAGF1_HUMAN&rb=83&re=254&var=V84L	deleterious(0)				YES	MAGEF1,missense_variant,p.Val84Leu,ENST00000317897,NM_022149.4;							MODERATE	250/924	V84L	MAGF1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000315064		CCDS3269.1			1	
ROBO1	0	LGGM	GRCh37	3	78683128	78683128	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	137	13	.	.	ENST00000464233.1:c.3438A>T	p.Thr1146=	p.T1146=	ENST00000464233	NM_002941.3	1146	acA/acT	0	1	1	UPI00000713D9	0		ENST00000464233		ENSG00000169855	10249		150			HGNC	p.T1146T		ROBO1		SNV							ENST00000464233	protein_coding			hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489		T		A		3552/6742							YES	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,synonymous_variant,p.=,ENST00000472273,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;							LOW	3438/4956		ROBO1_HUMAN			Transcript			.	ENSP00000420321		CCDS54611.1			1	
HIST1H2AC	0	LGGM	GRCh37	6	26124778	26124778	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	31	13	.	.	ENST00000602637.1:c.318C>A	p.Gly106=	p.G106=	ENST00000602637		106	ggC/ggA	0	1		UPI0000000DB8	0		ENST00000314088		ENSG00000180573	4733		44			HGNC	p.G106G		HIST1H2AC		SNV							ENST00000314088	nonsense_mediated_decay			hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620		G		A		406/1668								HIST1H2AC,synonymous_variant,p.=,ENST00000602637,;HIST1H2AC,synonymous_variant,p.=,ENST00000377791,NM_003512.3;HIST1H2BC,upstream_gene_variant,,ENST00000314332,;HIST1H2BC,upstream_gene_variant,,ENST00000396984,NM_003526.2;HIST1H2AC,synonymous_variant,p.=,ENST00000314088,;							LOW	318/393		H2A1C_HUMAN			Transcript			.	ENSP00000321389		CCDS4585.1			1	
FBN1	0	LGGM	GRCh37	15	48703541	48703541	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	25	14	.	.	ENST00000316623.5:c.8262A>C	p.Ala2754=	p.A2754=	ENST00000316623	NM_000138.4	2754	gcA/gcC	0	1	1	UPI0000163B0B	0		ENST00000316623		ENSG00000166147	3603		39			HGNC	p.A2754A		FBN1		SNV			1				ENST00000316623	protein_coding			PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22		A		G		8718/11756				Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,non_coding_transcript_exon_variant,,ENST00000561429,;FBN1,3_prime_UTR_variant,,ENST00000559133,;							LOW	8262/8616		FBN1_HUMAN			Transcript			.	ENSP00000325527		CCDS32232.1			1	
PLEKHG1	0	LGGM	GRCh37	6	151153180	151153180	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	56	14	.	.	ENST00000367328.1:c.2933T>C	p.Met978Thr	p.M978T	ENST00000367328	NM_001029884.1	978	aTg/aCg	0	1		UPI000015FC80	0	NA	ENST00000358517		ENSG00000120278	20884		70	1.78		HGNC	p.M978T		PLEKHG1		SNV							ENST00000367328	protein_coding	getma.org/?cm=var&var=hg19,6,151153180,T,C&fts=all				M/T		C	low	3144/7136		getma.org/?cm=msa&ty=f&p=PKHG1_HUMAN&rb=522&re=1383&var=M978T	tolerated(0.06)	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN				PLEKHG1,missense_variant,p.Met978Thr,ENST00000367328,NM_001029884.1;PLEKHG1,missense_variant,p.Met978Thr,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;PDCL3P5,downstream_gene_variant,,ENST00000398028,;							MODERATE	2933/4158	M978T	PKHG1_HUMAN			Transcript		benign(0.012)	.	ENSP00000351318		CCDS34552.1			1	
OR6N1	0	LGGM	GRCh37	1	158735743	158735743	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	22	15	.	.	ENST00000335094.2:c.730C>G	p.His244Asp	p.H244D	ENST00000335094	NM_001005185.1	244	Cac/Gac	0	1	1	UPI000003FE15	0	NA	ENST00000335094		ENSG00000197403	15034		37	4.16		HGNC	p.H244D		OR6N1		SNV							ENST00000335094	protein_coding	getma.org/?cm=var&var=hg19,1,158735743,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		H/D		C	high	750/1027		getma.org/?cm=msa&ty=f&p=OR6N1_HUMAN&rb=139&re=283&var=H244D	deleterious(0)				YES	OR6N1,missense_variant,p.His244Asp,ENST00000335094,NM_001005185.1;							MODERATE	730/939	H244D	OR6N1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335535		CCDS30905.1			1	
ARHGAP31	0	LGGM	GRCh37	3	119134824	119134824	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	41	16	.	.	ENST00000264245.4:c.4048T>C	p.Phe1350Leu	p.F1350L	ENST00000264245	NM_020754.2	1350	Ttc/Ctc	0	1	1	UPI00001C1DFD	0	NA	ENST00000264245		ENSG00000031081	29216		57	0.625		HGNC	p.F1350L		ARHGAP31		SNV			1				ENST00000264245	protein_coding	getma.org/?cm=var&var=hg19,3,119134824,T,C&fts=all		hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729		F/L		C	neutral	4580/9317		getma.org/?cm=msa&ty=f&p=RHG31_HUMAN&rb=1167&re=1442&var=F1350L	tolerated(0.2)				YES	ARHGAP31,missense_variant,p.Phe1350Leu,ENST00000264245,NM_020754.2;							MODERATE	4048/4335	F1350L	RHG31_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000264245		CCDS43135.1			1	
TTN	0	LGGM	GRCh37	2	179635368	179635368	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	31	16	.	.	ENST00000589042.1:c.8151A>T	p.Thr2717=	p.T2717=	ENST00000589042	NM_001267550.1	2717	acA/acT	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		47			HGNC	p.T2671T		TTN		SNV			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		T		A		8376/104301				C9JQJ2_HUMAN				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,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;							LOW	8151/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
MAML1	0	LGGM	GRCh37	5	179196021	179196021	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	30	17	.	.	ENST00000292599.3:c.1902G>T	p.Arg634Ser	p.R634S	ENST00000292599	NM_014757.4	634	agG/agT	0	1	1	UPI0000071286	0	NA	ENST00000292599		ENSG00000161021	13632		47	1.935		HGNC	p.R634S		MAML1		SNV							ENST00000292599	protein_coding	getma.org/?cm=var&var=hg19,5,179196021,G,T&fts=all		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF19,Low_complexity_(Seg):seg		R/S		T	medium	2165/5723		getma.org/?cm=msa&ty=f&p=MAML1_HUMAN&rb=474&re=673&var=R634S	tolerated(0.18)				YES	MAML1,missense_variant,p.Arg634Ser,ENST00000292599,NM_014757.4;MAML1,non_coding_transcript_exon_variant,,ENST00000503050,;MAML1,non_coding_transcript_exon_variant,,ENST00000507385,;MAML1,upstream_gene_variant,,ENST00000511027,;							MODERATE	1902/3051	R634S	MAML1_HUMAN			Transcript		benign(0.118)	.	ENSP00000292599		CCDS34315.1			1	
MEFV	0	LGGM	GRCh37	16	3293337	3293337	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	19	17	.	.	ENST00000219596.1:c.2150G>A	p.Arg717His	p.R717H	ENST00000219596	NM_000243.2	717	cGt/cAt	0	1	1	UPI000004C0CA	0	getma.org/pdb.php?prot=MEFV_HUMAN&from=650&to=775&var=R717H	ENST00000219596		ENSG00000103313	6998		36	2.31		HGNC	p.R537H	rs545517350,COSM308079	MEFV		SNV			1			0,1	ENST00000339854	protein_coding	getma.org/?cm=var&var=hg19,16,3293337,C,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407		R/H		T	medium	2190/3499		getma.org/?cm=msa&ty=f&p=MEFV_HUMAN&rb=650&re=775&var=R717H	tolerated(0.1)				YES	MEFV,missense_variant,p.Arg717His,ENST00000219596,NM_000243.2;MEFV,missense_variant,p.Arg537His,ENST00000339854,;MEFV,missense_variant,p.Arg506His,ENST00000536379,;MEFV,3_prime_UTR_variant,,ENST00000541159,NM_001198536.1;MEFV,3_prime_UTR_variant,,ENST00000542898,;MEFV,3_prime_UTR_variant,,ENST00000537682,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000536980,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,3_prime_UTR_variant,,ENST00000572244,;MEFV,downstream_gene_variant,,ENST00000539154,;					0,1		MODERATE	2150/2346	R717H	MEFV_HUMAN			Transcript		benign(0.236)	.	ENSP00000219596		CCDS10498.1			1	
LRP1B	0	LGGM	GRCh37	2	141232793	141232793	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	16	19	.	.	ENST00000389484.3:c.9539C>T	p.Thr3180Ile	p.T3180I	ENST00000389484	NM_018557.2	3180	aCa/aTa	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3097&to=3296&var=T3180I	ENST00000389484		ENSG00000168702	6693		35	3.035		HGNC	p.T3180I		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141232793,G,A&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825		T/I		A	medium	10511/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3097&re=3296&var=T3180I		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			YES	LRP1B,missense_variant,p.Thr3180Ile,ENST00000389484,NM_018557.2;							MODERATE	9539/13800	T3180I	LRP1B_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000374135		CCDS2182.1			1	
KAT6B	0	LGGM	GRCh37	10	76790344	76790344	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	35	20	.	.	ENST00000287239.4:c.5762G>T	p.Gly1921Val	p.G1921V	ENST00000287239	NM_001256468.1	1921	gGc/gTc	0	1	1	UPI000013DEA0	0	NA	ENST00000287239		ENSG00000156650	17582		55	0.695		HGNC	p.G1629V		KAT6B		SNV			1				ENST00000372724	protein_coding	getma.org/?cm=var&var=hg19,10,76790344,G,T&fts=all		hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615		G/V		T	neutral	6251/8287		getma.org/?cm=msa&ty=f&p=KAT6B_HUMAN&rb=1801&re=2000&var=G1921V					YES	KAT6B,missense_variant,p.Gly1921Val,ENST00000287239,NM_001256468.1,NM_012330.3;KAT6B,missense_variant,p.Gly1738Val,ENST00000372711,;KAT6B,missense_variant,p.Gly1629Val,ENST00000372724,NM_001256469.1;KAT6B,missense_variant,p.Gly1629Val,ENST00000372725,;KAT6B,missense_variant,p.Gly1629Val,ENST00000372714,;KAT6B,downstream_gene_variant,,ENST00000490365,;							MODERATE	5762/6222	G1921V	KAT6B_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000287239		CCDS7345.1			1	
FBN2	0	LGGM	GRCh37	5	127648454	127648454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060877	H060877N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	89	21	.	.	ENST00000508053.1:c.4751G>T	p.Gly1584Val	p.G1584V	ENST00000508053		1584	gGa/gTa	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=1577&to=1633&var=G1584V	ENST00000262464		ENSG00000138829	3604		110	0.805		HGNC	p.G1584V	rs770269667	FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127648454,C,A&fts=all		Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581		G/V		A	low	5190/10724	1.50E-05	getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=1577&re=1633&var=G1584V	tolerated(0.36)					FBN2,missense_variant,p.Gly1584Val,ENST00000508053,;FBN2,missense_variant,p.Gly1584Val,ENST00000262464,NM_001999.3;							MODERATE	4751/8739	G1584V	FBN2_HUMAN			Transcript		benign(0.015)	.	ENSP00000262464	8.24E-06	CCDS34222.1			1	
LRRC58	0	LGGM	GRCh37	3	120050111	120050111	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	48	22	.	.	ENST00000295628.3:c.1052A>G	p.Glu351Gly	p.E351G	ENST00000295628	NM_001099678.1	351	gAa/gGa	0	1	1	UPI00001C1DEE	0	NA	ENST00000295628		ENSG00000163428	26968		70	0.975		HGNC	p.E351G		LRRC58		SNV							ENST00000295628	protein_coding	getma.org/?cm=var&var=hg19,3,120050111,T,C&fts=all		Low_complexity_(Seg):seg		E/G		C	low	1148/7903		getma.org/?cm=msa&ty=f&p=LRC58_HUMAN&rb=225&re=371&var=E351G	deleterious(0)				YES	LRRC58,missense_variant,p.Glu351Gly,ENST00000295628,NM_001099678.1;							MODERATE	1052/1116	E351G	LRC58_HUMAN			Transcript		benign(0.129)	.	ENSP00000295628		CCDS46892.1			1	
GRM7	0	LGGM	GRCh37	3	7620220	7620220	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	25	22	.	.	ENST00000357716.4:c.1627T>C	p.Trp543Arg	p.W543R	ENST00000357716	NM_000844.3	543	Tgg/Cgg	0	1	1	UPI000004A7E3	0	getma.org/pdb.php?prot=GRM7_HUMAN&from=519&to=569&var=W543R	ENST00000357716		ENSG00000196277	4599		47	3.935		HGNC	p.W543R		GRM7		SNV							ENST00000402647	protein_coding	getma.org/?cm=var&var=hg19,3,7620220,T,C&fts=all		hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,PROSITE_patterns:PS00980,Pfam_domain:PF07562		W/R		C	high	1901/4127		getma.org/?cm=msa&ty=f&p=GRM7_HUMAN&rb=519&re=569&var=W543R	deleterious(0)	C9JU97_HUMAN			YES	GRM7,missense_variant,p.Trp543Arg,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Trp543Arg,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Trp543Arg,ENST00000389336,;GRM7,missense_variant,p.Trp543Arg,ENST00000402647,;GRM7,missense_variant,p.Trp543Arg,ENST00000403881,;GRM7,downstream_gene_variant,,ENST00000445087,;GRM7,non_coding_transcript_exon_variant,,ENST00000458641,;GRM7,missense_variant,p.Trp543Arg,ENST00000467425,;GRM7,missense_variant,p.Trp543Arg,ENST00000440923,;GRM7,missense_variant,p.Trp543Arg,ENST00000389335,;GRM7,non_coding_transcript_exon_variant,,ENST00000463676,;							MODERATE	1627/2748	W543R	GRM7_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000350348		CCDS43042.1			1	
HELZ	0	LGGM	GRCh37	17	65074564	65074564	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	40	30	.	.	ENST00000358691.5:c.5633C>T	p.Ser1878Leu	p.S1878L	ENST00000358691	NM_014877.3	1878	tCg/tTg	0	1	1	UPI000013D7F5	0	NA	ENST00000358691		ENSG00000198265	16878		70	0.55		HGNC	p.S1879L		HELZ		SNV							ENST00000580168	protein_coding	getma.org/?cm=var&var=hg19,17,65074564,G,A&fts=all		Low_complexity_(Seg):seg		S/L		A	neutral	5800/13810		getma.org/?cm=msa&ty=f&p=HELZ_HUMAN&rb=1853&re=1942&var=S1878L	deleterious_low_confidence(0.02)	J3KT20_HUMAN,J3KS59_HUMAN			YES	HELZ,missense_variant,p.Ser1878Leu,ENST00000358691,NM_014877.3;HELZ,missense_variant,p.Ser1879Leu,ENST00000580168,;HELZ,3_prime_UTR_variant,,ENST00000579953,;							MODERATE	5633/5829	S1878L	HELZ_HUMAN			Transcript		unknown(0)	.	ENSP00000351524		CCDS42374.1			1	
RSRC1	0	LGGM	GRCh37	3	158261182	158261182	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H060877	H060877N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	22	30	.	.	ENST00000295930.3:c.818T>C	p.Val273Ala	p.V273A	ENST00000295930	NM_016625.3	273	gTt/gCt	0	1	1	UPI000006EB23	0	NA	ENST00000295930		ENSG00000174891	24152		52	0		HGNC	p.V273A		RSRC1		SNV							ENST00000480820	protein_coding	getma.org/?cm=var&var=hg19,3,158261182,T,C&fts=all		hmmpanther:PTHR31968		V/A		C	neutral	980/1727		getma.org/?cm=msa&ty=f&p=RSRC1_HUMAN&rb=201&re=334&var=V273A	tolerated_low_confidence(0.58)	C9JVB3_HUMAN,C9J8Q2_HUMAN,C9J367_HUMAN			YES	RSRC1,missense_variant,p.Val215Ala,ENST00000464171,;RSRC1,missense_variant,p.Val273Ala,ENST00000295930,NM_016625.3,NM_001271838.1;RSRC1,missense_variant,p.Val215Ala,ENST00000312179,NM_001271834.1;RSRC1,missense_variant,p.Val273Ala,ENST00000480820,;RSRC1,missense_variant,p.Val167Ala,ENST00000482822,;RSRC1,intron_variant,,ENST00000475278,;RP11-538P18.2,downstream_gene_variant,,ENST00000475981,;RSRC1,3_prime_UTR_variant,,ENST00000480119,;							MODERATE	818/1005	V273A	RSRC1_HUMAN			Transcript		benign(0.028)	.	ENSP00000295930		CCDS3181.1			1	
FAM208B	0	LGGM	GRCh37	10	5799546	5799546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	28	38	.	.	ENST00000328090.5:c.6796G>A	p.Gly2266Arg	p.G2266R	ENST00000328090	NM_017782.4	2266	Gga/Aga	0	1	1	UPI00004589BB	0	NA	ENST00000328090		ENSG00000108021	23484		66	0.69		HGNC	p.G2266R		FAM208B		SNV							ENST00000328090	protein_coding	getma.org/?cm=var&var=hg19,10,5799546,G,A&fts=all		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		G/R		A	neutral	7421/8626		getma.org/?cm=msa&ty=f&p=F208B_HUMAN&rb=2201&re=2400&var=G2266R	deleterious(0)				YES	FAM208B,missense_variant,p.Gly2266Arg,ENST00000328090,NM_017782.4;FAM208B,upstream_gene_variant,,ENST00000459693,;FAM208B,upstream_gene_variant,,ENST00000487196,;							MODERATE	6796/7293	G2266R	F208B_HUMAN			Transcript		benign(0.218)	.	ENSP00000328426		CCDS41485.1			1	
YLPM1	0	LGGM	GRCh37	14	75266175	75266175	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H060877	H060877N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	92	45	.	.	ENST00000325680.7:c.4175A>G	p.Asp1392Gly	p.D1392G	ENST00000325680	NM_019589.2	1392	gAc/gGc	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		137	1.1		HGNC	p.D945G		YLPM1		SNV							ENST00000549293	protein_coding	getma.org/?cm=var&var=hg19,14,75266175,A,G&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0		D/G		G	low	4299/7017		getma.org/?cm=msa&ty=f&p=YLPM1_HUMAN&rb=541&re=1282&var=D1197G		B4DMQ9_HUMAN			YES	YLPM1,missense_variant,p.Asp1392Gly,ENST00000325680,NM_019589.2;YLPM1,missense_variant,p.Asp1197Gly,ENST00000238571,;YLPM1,intron_variant,,ENST00000552421,;YLPM1,missense_variant,p.Asp945Gly,ENST00000549293,;							MODERATE	4175/6441	D1197G	YLPM1_HUMAN			Transcript		possibly_damaging(0.761)	.	ENSP00000324463		CCDS45135.1			1	
ASXL1	0	LGGM	GRCh37	20	31024721	31024721	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H060877	H060877N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060877N.bam, H060877T.bam	Illumina HiSeq	32	79	.	.	ENST00000375687.4:c.4206G>T	p.Met1402Ile	p.M1402I	ENST00000375687	NM_015338.5	1402	atG/atT	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		111	0.975		HGNC	p.M1402I		ASXL1		SNV			1				ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31024721,G,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		M/I		T	low	4630/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=1342&re=1474&var=M1402I	tolerated(0.2)				YES	ASXL1,missense_variant,p.Met1402Ile,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Met1397Ile,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;							MODERATE	4206/4626	M1402I	ASXL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000364839		CCDS13201.1			1	
GBGT1	0	LGGM	GRCh37	9	136030650	136030650	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H060891	H060891N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060891N.bam, H060891T.bam	Illumina HiSeq	28	3	.	.	ENST00000372040.3:c.274G>T	p.Glu92Ter	p.E92*	ENST00000372040		92	Gag/Tag	0	1	1	UPI000013DB02	0	NA	ENST00000372040		ENSG00000148288	20460		31	0		HGNC	p.E92X		GBGT1		SNV							ENST00000372040	protein_coding	getma.org/?cm=var&var=hg19,9,136030650,C,A&fts=all		hmmpanther:PTHR10462:SF29,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448		E/*		A	NA	586/1980		NA		J7Q0Z1_HUMAN,J7PW20_HUMAN			YES	GBGT1,stop_gained,p.Glu92Ter,ENST00000372040,;GBGT1,stop_gained,p.Glu92Ter,ENST00000372043,NM_021996.4,NM_001282629.1;GBGT1,stop_gained,p.Glu75Ter,ENST00000540636,NM_001282632.1;RALGDS,missense_variant,p.Arg104Leu,ENST00000542690,;GBGT1,missense_variant,p.Arg104Leu,ENST00000372038,;GBGT1,downstream_gene_variant,,ENST00000372036,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;							HIGH	274/1044	E92*	GBGT1_HUMAN			Transcript			.	ENSP00000361110		CCDS6960.1			1	
PARP3	0	LGGM	GRCh37	3	51980313	51980313	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H060891	H060891N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060891N.bam, H060891T.bam	Illumina HiSeq	38	3	.	.	ENST00000398755.3:c.1251C>A	p.Gly417=	p.G417=	ENST00000398755		417	ggC/ggA	0	1		UPI0000457116	0		ENST00000417220		ENSG00000041880	273		41			HGNC	p.G410G		PARP3		SNV							ENST00000417220	protein_coding			PROSITE_profiles:PS51059,hmmpanther:PTHR15447,hmmpanther:PTHR15447:SF9,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399		G		A		1718/2472				C9J9C7_HUMAN				PARP3,synonymous_variant,p.=,ENST00000417220,;PARP3,synonymous_variant,p.=,ENST00000431474,NM_005485.4,NM_001003931.2;PARP3,synonymous_variant,p.=,ENST00000398755,;RRP9,upstream_gene_variant,,ENST00000232888,NM_004704.4;PARP3,downstream_gene_variant,,ENST00000498510,;PARP3,upstream_gene_variant,,ENST00000486510,;PARP3,3_prime_UTR_variant,,ENST00000471971,;PARP3,downstream_gene_variant,,ENST00000470601,;PARP3,downstream_gene_variant,,ENST00000475782,;PARP3,downstream_gene_variant,,ENST00000470749,;							LOW	1230/1602		PARP3_HUMAN			Transcript			.	ENSP00000395951		CCDS43097.1			1	
DCAF13	0	LGGM	GRCh37	8	104452464	104452464	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060891	H060891N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060891N.bam, H060891T.bam	Illumina HiSeq	156	6	.	.	ENST00000297579.5:c.1507C>A	p.Leu503Met	p.L503M	ENST00000297579	NM_015420.6	503	Ctg/Atg	0	1	1	UPI0000DBEF2A	0	NA	ENST00000297579		ENSG00000164934	24535		162	2.06		HGNC	p.L503M		DCAF13		SNV							ENST00000297579	protein_coding	getma.org/?cm=var&var=hg19,8,104452464,C,A&fts=all		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		L/M		A	medium	1784/2642		getma.org/?cm=msa&ty=f&p=DCA13_HUMAN&rb=306&re=373&var=L351M	deleterious(0.04)				YES	DCAF13,missense_variant,p.Leu503Met,ENST00000297579,NM_015420.6;DCAF13,non_coding_transcript_exon_variant,,ENST00000521999,;DCAF13,non_coding_transcript_exon_variant,,ENST00000518554,;							MODERATE	1507/1794	L351M	DCA13_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000297579		CCDS34934.1			1	
LPHN1	0	LGGM	GRCh37	19	14262229	14262229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	9	2	.	.	ENST00000340736.6:c.3881G>T	p.Arg1294Leu	p.R1294L	ENST00000340736	NM_001008701.2	1294	cGg/cTg	0	1	1	UPI000005046A	0	NA	ENST00000340736		ENSG00000072071	20973		11	1.845		HGNC	p.R1289L		LPHN1		SNV							ENST00000361434	protein_coding	getma.org/?cm=var&var=hg19,19,14262229,C,A&fts=all		Pfam_domain:PF02354		R/L		A	low	4179/5658		getma.org/?cm=msa&ty=f&p=LPHN1_HUMAN&rb=1113&re=1474&var=R1294L	deleterious(0)				YES	LPHN1,missense_variant,p.Arg1294Leu,ENST00000340736,NM_001008701.2;LPHN1,missense_variant,p.Arg1289Leu,ENST00000361434,NM_014921.4;LPHN1,missense_variant,p.Arg195Leu,ENST00000592164,;LPHN1,missense_variant,p.Arg161Leu,ENST00000593005,;CTB-55O6.12,intron_variant,,ENST00000588387,;CTB-55O6.12,intron_variant,,ENST00000588658,;CTB-55O6.12,upstream_gene_variant,,ENST00000592086,;							MODERATE	3881/4425	R1294L	LPHN1_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000340688		CCDS32928.1			1	
PAPSS2	0	LGGM	GRCh37	10	89419744	89419744	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	2	2	.	.	ENST00000456849.1:c.6G>T	p.Ser2=	p.S2=	ENST00000456849	NM_001015880.1	2	tcG/tcT	0	1		UPI0000132103	0		ENST00000361175		ENSG00000198682	8604		4			HGNC	p.S2S		PAPSS2		SNV			1				ENST00000361175	protein_coding			hmmpanther:PTHR11055:SF16,hmmpanther:PTHR11055		S		T		375/3949				Q5TB52_HUMAN				PAPSS2,synonymous_variant,p.=,ENST00000361175,NM_004670.3;PAPSS2,synonymous_variant,p.=,ENST00000456849,NM_001015880.1;PAPSS2,upstream_gene_variant,,ENST00000427144,;RP11-57C13.6,downstream_gene_variant,,ENST00000438082,;RP11-57C13.3,non_coding_transcript_exon_variant,,ENST00000354527,;PAPSS2,upstream_gene_variant,,ENST00000482258,;PAPSS2,upstream_gene_variant,,ENST00000465996,;							LOW	6/1845		PAPS2_HUMAN			Transcript			.	ENSP00000354436		CCDS7385.1			1	
CROCC	0	LGGM	GRCh37	1	17297190	17297190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	1	2	.	.	ENST00000375541.5:c.5712C>A	p.Gly1904=	p.G1904=	ENST00000375541	NM_014675.3	1904	ggC/ggA	0	1	1	UPI00001AE5A0	0		ENST00000375541		ENSG00000058453	21299		3			HGNC	p.G1904G		CROCC		SNV							ENST00000375541	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11		G		A		5781/6656							YES	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,;MFAP2,downstream_gene_variant,,ENST00000476788,;							LOW	5712/6054		CROCC_HUMAN			Transcript			.	ENSP00000364691		CCDS30616.1			1	
TSPAN3	0	LGGM	GRCh37	15	77339182	77339182	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	3	2	.	.	ENST00000267970.4:c.757G>T	p.Ala253Ser	p.A253S	ENST00000267970	NM_001168412.1	253	Gca/Tca	0	1	1	UPI000004BA5D	0	NA	ENST00000267970		ENSG00000140391	17752		5	1.7		HGNC	p.A45S		TSPAN3		SNV							ENST00000558745	protein_coding	getma.org/?cm=var&var=hg19,15,77339182,C,A&fts=all				A/S		A	low	1031/3854		getma.org/?cm=msa&ty=f&p=TSN3_HUMAN&rb=209&re=253&var=A253S	deleterious_low_confidence(0)	H0YMH8_HUMAN			YES	TSPAN3,missense_variant,p.Ala253Ser,ENST00000267970,NM_001168412.1,NM_198902.2,NM_005724.5;TSPAN3,missense_variant,p.Ala228Ser,ENST00000346495,;TSPAN3,missense_variant,p.Ala45Ser,ENST00000561277,;TSPAN3,missense_variant,p.Ala189Ser,ENST00000424443,;TSPAN3,missense_variant,p.Ala45Ser,ENST00000558745,;TSPAN3,missense_variant,p.Ala164Ser,ENST00000559494,;RP11-797A18.4,upstream_gene_variant,,ENST00000569742,;RP11-797A18.3,downstream_gene_variant,,ENST00000560446,;TSPAN3,non_coding_transcript_exon_variant,,ENST00000560715,;							MODERATE	757/762	A253S	TSN3_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000267970		CCDS10292.1			1	
RBM46	0	LGGM	GRCh37	4	155719954	155719954	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	4	2	.	.	ENST00000281722.3:c.640C>A	p.His214Asn	p.H214N	ENST00000281722	NM_144979.4	214	Cac/Aac	0	1	1	UPI000007173F	0	getma.org/pdb.php?prot=RBM46_HUMAN&from=141&to=223&var=H214N	ENST00000281722		ENSG00000151962	28401		6	0.845		HGNC	p.H214N		RBM46		SNV							ENST00000281722	protein_coding	getma.org/?cm=var&var=hg19,4,155719954,C,A&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00360,TIGRFAM_domain:TIGR01648,Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF272,PROSITE_profiles:PS50102		H/N		A	low	875/2583		getma.org/?cm=msa&ty=f&p=RBM46_HUMAN&rb=141&re=223&var=H214N	tolerated(0.07)	D6RF41_HUMAN			YES	RBM46,missense_variant,p.His214Asn,ENST00000510397,NM_001277173.1;RBM46,missense_variant,p.His214Asn,ENST00000281722,NM_144979.4;RBM46,missense_variant,p.His214Asn,ENST00000514866,NM_001277171.1;RBM46,downstream_gene_variant,,ENST00000512640,;							MODERATE	640/1602	H214N	RBM46_HUMAN			Transcript		benign(0.443)	.	ENSP00000281722		CCDS3790.1			1	
DCLK2	0	LGGM	GRCh37	4	151000223	151000223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	3	2	.	.	ENST00000302176.8:c.44G>T	p.Arg15Leu	p.R15L	ENST00000302176	NM_001040261.4	15	cGg/cTg	0	1		UPI0000D615C8	0	NA	ENST00000296550		ENSG00000170390	19002		5	2.25		HGNC	p.R15L		DCLK2		SNV							ENST00000506325	protein_coding	getma.org/?cm=var&var=hg19,4,151000223,G,T&fts=all		hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347		R/L		T	medium	798/4265		getma.org/?cm=msa&ty=f&p=DCLK2_HUMAN&rb=1&re=88&var=R15L	deleterious_low_confidence(0)					DCLK2,missense_variant,p.Arg15Leu,ENST00000296550,NM_001040260.3;DCLK2,missense_variant,p.Arg15Leu,ENST00000302176,NM_001040261.4;DCLK2,missense_variant,p.Arg15Leu,ENST00000506325,;DCLK2,missense_variant,p.Arg15Leu,ENST00000411937,;							MODERATE	44/2301	R15L	DCLK2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000296550		CCDS34076.1			1	
ABCA3	0	LGGM	GRCh37	16	2326807	2326807	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	30	3	.	.	ENST00000301732.5:c.4984-1G>T		p.X1662_splice	ENST00000301732	NM_001089.2			0	1	1	UPI0000001232	0		ENST00000301732		ENSG00000167972	33		33			HGNC	-		ABCA3		SNV			1				ENST00000382381	protein_coding							A		-/6609							YES	ABCA3,splice_acceptor_variant,,ENST00000301732,NM_001089.2;ABCA3,splice_acceptor_variant,,ENST00000382381,;MIR940,downstream_gene_variant,,ENST00000563734,;MIR940,downstream_gene_variant,,ENST00000562838,;MIR940,downstream_gene_variant,,ENST00000567888,;MIR940,downstream_gene_variant,,ENST00000401276,;MIR4717,downstream_gene_variant,,ENST00000584656,;ABCA3,downstream_gene_variant,,ENST00000566200,;ABCA3,downstream_gene_variant,,ENST00000569062,;							HIGH	4984/5115		ABCA3_HUMAN			Transcript			.	ENSP00000301732		CCDS10466.1			1	
FLYWCH1	0	LGGM	GRCh37	16	2979886	2979886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	32	3	.	.	ENST00000416288.2:c.200C>A	p.Ser67Tyr	p.S67Y	ENST00000416288	NM_032296.2	67	tCc/tAc	0	1		UPI000013CE05	0	NA	ENST00000253928		ENSG00000059122	25404		35	0.975		HGNC	p.S67Y		FLYWCH1		SNV							ENST00000253928	protein_coding	getma.org/?cm=var&var=hg19,16,2979886,C,A&fts=all		Pfam_domain:PF15423,hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF2		S/Y		A	low	605/5037		getma.org/?cm=msa&ty=f&p=FWCH1_HUMAN&rb=1&re=115&var=S67Y	deleterious_low_confidence(0.02)	I3L231_HUMAN,I3L0R3_HUMAN				FLYWCH1,missense_variant,p.Ser67Tyr,ENST00000399667,;FLYWCH1,missense_variant,p.Ser67Tyr,ENST00000253928,;FLYWCH1,missense_variant,p.Ser67Tyr,ENST00000416288,NM_032296.2,NM_020912.1;FLYWCH1,missense_variant,p.Ser67Tyr,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000344592,;FLYWCH1,upstream_gene_variant,,ENST00000573564,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,upstream_gene_variant,,ENST00000571580,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;FLYWCH1,upstream_gene_variant,,ENST00000575604,;							MODERATE	200/2151	S67Y	FWCH1_HUMAN			Transcript		benign(0.418)	.	ENSP00000253928					1	
TGS1	0	LGGM	GRCh37	8	56737187	56737187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	44	3	.	.	ENST00000260129.5:c.2487C>A	p.Asn829Lys	p.N829K	ENST00000260129	NM_024831.6	829	aaC/aaA	0	1	1	UPI0000DBEF24	0	getma.org/pdb.php?prot=TGS1_HUMAN&from=691&to=845&var=N829K	ENST00000260129		ENSG00000137574	17843		47	3.215		HGNC	p.N829K		TGS1		SNV							ENST00000260129	protein_coding	getma.org/?cm=var&var=hg19,8,56737187,C,A&fts=all		Pfam_domain:PF09445,hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32		N/K		A	medium	2964/3782		getma.org/?cm=msa&ty=f&p=TGS1_HUMAN&rb=691&re=845&var=N829K	deleterious(0)				YES	TGS1,missense_variant,p.Asn829Lys,ENST00000260129,NM_024831.6;TGS1,3_prime_UTR_variant,,ENST00000523948,;							MODERATE	2487/2562	N829K	TGS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260129		CCDS34894.1			1	
COA6	0	LGGM	GRCh37	1	234509528	234509528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	46	3	.	.	ENST00000366613.1:c.64C>A	p.His22Asn	p.H22N	ENST00000366613	NM_001012985.2	22	Cac/Aac	0	1	1	UPI000015FF99	0	NA	ENST00000366613		ENSG00000168275	18025		49	0		HGNC	p.H22N		COA6		SNV			1				ENST00000366613	protein_coding	getma.org/?cm=var&var=hg19,1,234509528,C,A&fts=all				H/N		A	neutral	100/641		getma.org/?cm=msa&ty=f&p=CA031_HUMAN&rb=1&re=46&var=H22N	tolerated_low_confidence(0.08)				YES	COA6,missense_variant,p.His22Asn,ENST00000366613,NM_001012985.2;COA6,5_prime_UTR_variant,,ENST00000366612,;COA6,intron_variant,,ENST00000366615,NM_001206641.1;RP5-827C21.6,downstream_gene_variant,,ENST00000610233,;RP5-827C21.4,upstream_gene_variant,,ENST00000451795,;							MODERATE	64/378	H22N	COA6_HUMAN			Transcript		benign(0.043)	.	ENSP00000355572		CCDS31059.1			1	
MUC8	0	LGGM	GRCh37	12	133049800	133049801	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H061039	H061039N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	3	3	.	.	ENST00000595994.1:c.476_477insA	p.Arg160ProfsTer145	p.R160Pfs*145	ENST00000595994		159	acc/acAc	0	1	1	UPI00015DFFBC	0		ENST00000595994		ENSG00000269676	7519		6			HGNC	p.T159fs		MUC8		insertion							ENST00000595994	protein_coding					T/TX		T		476-477/927				M0R3A3_HUMAN			YES	MUC8,frameshift_variant,p.Arg160ProfsTer145,ENST00000595994,;							HIGH	476-477/927					Transcript			.	ENSP00000473092					1	
ITPRIPL2	0	LGGM	GRCh37	16	19126469	19126469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	34	3	.	.	ENST00000381440.3:c.686G>A	p.Cys229Tyr	p.C229Y	ENST00000381440	NM_001034841.3	229	tGc/tAc	0	1	1	UPI000023760C	0	NA	ENST00000381440		ENSG00000205730	27257		37	0.205		HGNC	p.C229Y		ITPRIPL2		SNV							ENST00000381440	protein_coding	getma.org/?cm=var&var=hg19,16,19126469,G,A&fts=all		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF9		C/Y		A	neutral	1216/7693		getma.org/?cm=msa&ty=f&p=IPIL2_HUMAN&rb=201&re=330&var=C229Y	tolerated(0.41)				YES	ITPRIPL2,missense_variant,p.Cys229Tyr,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,;							MODERATE	686/1608	C229Y	IPIL2_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000370849		CCDS32395.1			1	
TMEM245	0	LGGM	GRCh37	9	111798625	111798625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	46	3	.	.	ENST00000374586.3:c.2260G>T	p.Gly754Trp	p.G754W	ENST00000374586	NM_032012.3	754	Ggg/Tgg	0	1	1	UPI000013C833	0	NA	ENST00000374586		ENSG00000106771	1363		49	2.28		HGNC	p.G754W		TMEM245		SNV							ENST00000374586	protein_coding	getma.org/?cm=var&var=hg19,9,111798625,C,A&fts=all		hmmpanther:PTHR21716,hmmpanther:PTHR21716:SF1,Pfam_domain:PF01594		G/W		A	medium	2292/7980		getma.org/?cm=msa&ty=f&p=TM245_HUMAN&rb=601&re=800&var=G754W	deleterious(0)				YES	TMEM245,missense_variant,p.Gly754Trp,ENST00000374586,NM_032012.3;TMEM245,missense_variant,p.Gly347Trp,ENST00000413712,;TMEM245,3_prime_UTR_variant,,ENST00000491854,;TMEM245,non_coding_transcript_exon_variant,,ENST00000472207,;TMEM245,non_coding_transcript_exon_variant,,ENST00000482868,;							MODERATE	2260/2640	G754W	TM245_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363714		CCDS43858.1			1	
RHCE	0	LGGM	GRCh37	1	25747143	25747143	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	38	3	.	.	ENST00000294413.7:c.135G>T	p.Val45=	p.V45=	ENST00000294413	NM_020485.4	45	gtG/gtT	0	1	1	UPI00001D9627	0		ENST00000294413		ENSG00000188672	10008		41			HGNC	p.V45V		RHCE		SNV			1				ENST00000413854	protein_coding			Pfam_domain:PF00909,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix		V		A		194/1591				Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN			YES	RHCE,synonymous_variant,p.=,ENST00000294413,NM_020485.4;RHCE,synonymous_variant,p.=,ENST00000243186,;RHCE,synonymous_variant,p.=,ENST00000413854,;RHCE,synonymous_variant,p.=,ENST00000425135,;RHCE,synonymous_variant,p.=,ENST00000455194,;RHCE,synonymous_variant,p.=,ENST00000349438,NM_138618.3;RHCE,synonymous_variant,p.=,ENST00000340849,NM_138617.3;RHCE,synonymous_variant,p.=,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000349320,;RHCE,non_coding_transcript_exon_variant,,ENST00000495048,;RHCE,synonymous_variant,p.=,ENST00000533771,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;							LOW	135/1254		RHCE_HUMAN			Transcript			.	ENSP00000294413		CCDS30635.1			1	
CHRM1	0	LGGM	GRCh37	11	62677201	62677201	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	34	3	.	.	ENST00000306960.3:c.1372C>A	p.Arg458Ser	p.R458S	ENST00000306960	NM_000738.2	458	Cgc/Agc	0	1	1	UPI00001252AB	0	NA	ENST00000306960		ENSG00000168539	1950		37	-0.345		HGNC	p.R458S		CHRM1		SNV							ENST00000306960	protein_coding	getma.org/?cm=var&var=hg19,11,62677201,G,T&fts=all		Prints_domain:PR00538		R/S		T	neutral	1914/2964		getma.org/?cm=msa&ty=f&p=ACM1_HUMAN&rb=419&re=460&var=R458S	deleterious_low_confidence(0.03)	Q96RH1_HUMAN,Q53XZ3_HUMAN,F5GZF8_HUMAN			YES	CHRM1,missense_variant,p.Arg458Ser,ENST00000306960,NM_000738.2;CHRM1,downstream_gene_variant,,ENST00000543973,;CHRM1,downstream_gene_variant,,ENST00000536524,;AP000438.2,intron_variant,,ENST00000543624,;							MODERATE	1372/1383	R458S	ACM1_HUMAN			Transcript		benign(0.077)	.	ENSP00000306490		CCDS8040.1			1	
FAM184A	0	LGGM	GRCh37	6	119324713	119324713	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	27	3	.	.	ENST00000338891.7:c.1890G>T	p.Val630=	p.V630=	ENST00000338891	NM_024581.4	630	gtG/gtT	0	1	1	UPI0000470B36	0		ENST00000338891		ENSG00000111879	20991		30			HGNC	p.V510V		FAM184A		SNV							ENST00000352896	protein_coding			hmmpanther:PTHR18870,hmmpanther:PTHR18870:SF7		V		A		2334/4141							YES	FAM184A,synonymous_variant,p.=,ENST00000338891,NM_024581.4;FAM184A,synonymous_variant,p.=,ENST00000352896,NM_001100411.1;FAM184A,synonymous_variant,p.=,ENST00000368475,NM_001288576.1;FAM184A,synonymous_variant,p.=,ENST00000521531,;FAM184A,downstream_gene_variant,,ENST00000522284,;RP11-351A11.1,intron_variant,,ENST00000518570,;							LOW	1890/3423		F184A_HUMAN			Transcript			.	ENSP00000342604		CCDS43499.1			1	
FAM25A	0	LGGM	GRCh37	10	88782077	88782077	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	46	3	.	.	ENST00000343959.4:c.80C>T	p.Ala27Val	p.A27V	ENST00000343959	NM_001146157.2	27	gCc/gTc	0	1	1	UPI00003666A7	0		ENST00000343959		ENSG00000188100	23436		49			HGNC	p.A27V		FAM25A		SNV							ENST00000343959	protein_coding			Prints_domain:PR02048		A/V		T		99/345			tolerated_low_confidence(0.34)				YES	FAM25A,missense_variant,p.Ala27Val,ENST00000343959,NM_001146157.2;RP11-96C23.14,non_coding_transcript_exon_variant,,ENST00000444180,;RP11-96C23.12,upstream_gene_variant,,ENST00000605222,;							MODERATE	80/270		FM25A_HUMAN			Transcript		unknown(0)	.	ENSP00000342790		CCDS44451.1			1	
SCN4A	0	LGGM	GRCh37	17	62049198	62049198	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	10	3	.	.	ENST00000435607.1:c.495A>T	p.Thr165=	p.T165=	ENST00000435607	NM_000334.4	165	acA/acT	0	1	1	UPI0000201254	0		ENST00000435607		ENSG00000007314	10591		13			HGNC	p.T165T		SCN4A		SNV			1				ENST00000435607	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		T		A		572/7805				Q9H3L9_HUMAN			YES	SCN4A,synonymous_variant,p.=,ENST00000578147,;SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;CTC-264K15.6,downstream_gene_variant,,ENST00000577329,;							LOW	495/5511		SCN4A_HUMAN			Transcript			.	ENSP00000396320		CCDS45761.1			1	
MYH14	0	LGGM	GRCh37	19	50784856	50784856	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	38	3	.	.	ENST00000601313.1:c.4296C>A	p.Ser1432=	p.S1432=	ENST00000601313	NM_001145809.1	1432	tcC/tcA	0	1		UPI0000551C8C	0		ENST00000376970		ENSG00000105357	23212		41			HGNC	p.S1424S		MYH14		SNV			1				ENST00000376970	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318		S		A		4319/6886				F2Z2U8_HUMAN,A1L2Z2_HUMAN				MYH14,synonymous_variant,p.=,ENST00000440075,;MYH14,synonymous_variant,p.=,ENST00000601313,NM_001145809.1;MYH14,synonymous_variant,p.=,ENST00000376970,NM_024729.3;MYH14,synonymous_variant,p.=,ENST00000262269,;MYH14,synonymous_variant,p.=,ENST00000425460,NM_001077186.1;MYH14,synonymous_variant,p.=,ENST00000598205,;MYH14,synonymous_variant,p.=,ENST00000596571,;MYH14,upstream_gene_variant,,ENST00000595016,;							LOW	4272/6087					Transcript			.	ENSP00000366169					1	
CACNA2D4	0	LGGM	GRCh37	12	2019101	2019101	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	20	3	.	.	ENST00000382722.5:c.457C>A	p.Leu153Met	p.L153M	ENST00000382722	NM_172364.4	153	Ctg/Atg	0	1	1	UPI0000E593D9	0	NA	ENST00000382722		ENSG00000151062	20202		23	2.415		HGNC	p.L153M		CACNA2D4		SNV			1				ENST00000587995	protein_coding	getma.org/?cm=var&var=hg19,12,2019101,G,T&fts=all		Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26		L/M		T	medium	820/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=148&re=264&var=L153M	deleterious(0)				YES	CACNA2D4,missense_variant,p.Leu153Met,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Leu153Met,ENST00000587995,;CACNA2D4,missense_variant,p.Leu153Met,ENST00000586184,;CACNA2D4,missense_variant,p.Leu89Met,ENST00000588077,;CACNA2D4,missense_variant,p.Leu89Met,ENST00000585708,;CACNA2D4,missense_variant,p.Leu153Met,ENST00000585732,;CACNA2D4,missense_variant,p.Leu153Met,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;							MODERATE	457/3414	L153M	CA2D4_HUMAN			Transcript		possibly_damaging(0.719)	.	ENSP00000372169		CCDS44785.1			1	
LRAT	0	LGGM	GRCh37	4	155670228	155670228	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	45	3	.	.	ENST00000336356.3:c.633G>T	p.Leu211Phe	p.L211F	ENST00000336356	NM_004744.3	211	ttG/ttT	0	1	1	UPI0000072711	0	NA	ENST00000336356		ENSG00000121207	6685		48	1.645		HGNC	p.L211F		LRAT		SNV			1				ENST00000336356	protein_coding	getma.org/?cm=var&var=hg19,4,155670228,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13943:SF1,hmmpanther:PTHR13943		L/F		T	low	886/4928		getma.org/?cm=msa&ty=f&p=LRAT_HUMAN&rb=175&re=230&var=L211F	tolerated(0.07)	D6RC94_HUMAN			YES	LRAT,missense_variant,p.Leu211Phe,ENST00000336356,NM_004744.3;LRAT,missense_variant,p.Leu211Phe,ENST00000507827,;LRAT,downstream_gene_variant,,ENST00000502525,;LRAT,non_coding_transcript_exon_variant,,ENST00000502474,;LRAT,non_coding_transcript_exon_variant,,ENST00000510919,;LRAT,downstream_gene_variant,,ENST00000499392,;LRAT,non_coding_transcript_exon_variant,,ENST00000510733,;							MODERATE	633/693	L211F	LRAT_HUMAN			Transcript		benign(0.02)	.	ENSP00000337224		CCDS3789.1			1	
APAF1	0	LGGM	GRCh37	12	99121060	99121060	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	40	3	.	.	ENST00000551964.1:c.3566G>A	p.Gly1189Asp	p.G1189D	ENST00000551964	NM_181861.1	1189	gGc/gAc	0	1	1	UPI0000036328	0	getma.org/pdb.php?prot=APAF_HUMAN&from=1174&to=1203&var=G1189D	ENST00000551964		ENSG00000120868	576		43	2.75		HGNC	p.G1146D	rs765405502	APAF1		SNV							ENST00000357310	protein_coding	getma.org/?cm=var&var=hg19,12,99121060,G,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,Pfam_domain:PF00400,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037646,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/D		A	medium	4302/5444	4.50E-05	getma.org/?cm=msa&ty=f&p=APAF_HUMAN&rb=1174&re=1203&var=G1189D	tolerated(0.44)				YES	APAF1,missense_variant,p.Gly1146Asp,ENST00000357310,NM_181868.1;APAF1,missense_variant,p.Gly1135Asp,ENST00000359972,NM_013229.2,NM_001160.2;APAF1,missense_variant,p.Gly1104Asp,ENST00000339433,;APAF1,missense_variant,p.Gly1178Asp,ENST00000550527,;APAF1,missense_variant,p.Gly1189Asp,ENST00000551964,NM_181861.1;APAF1,missense_variant,p.Gly1146Asp,ENST00000547045,;APAF1,missense_variant,p.Gly1104Asp,ENST00000549007,;APAF1,intron_variant,,ENST00000333991,NM_181869.1;APAF1,intron_variant,,ENST00000552268,;APAF1,non_coding_transcript_exon_variant,,ENST00000552929,;ANKS1B,intron_variant,,ENST00000555119,;							MODERATE	3566/3747	G1189D	APAF_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000448165	2.47E-05	CCDS9069.1			1	
SVEP1	0	LGGM	GRCh37	9	113228217	113228217	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	80	4	.	.	ENST00000401783.2:c.3250C>A	p.Arg1084=	p.R1084=	ENST00000401783	NM_153366.3	1084	Cgg/Agg	0	1		UPI0000458920	0		ENST00000374469		ENSG00000165124	15985		84			HGNC	p.R1084R		SVEP1		SNV							ENST00000401783	protein_coding			Pfam_domain:PF07699,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,Superfamily_domains:SSF57184		R		T		3445/12194								SVEP1,synonymous_variant,p.=,ENST00000401783,NM_153366.3;SVEP1,synonymous_variant,p.=,ENST00000374469,;SVEP1,synonymous_variant,p.=,ENST00000302728,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;							LOW	3181/10647					Transcript			.	ENSP00000363593					1	
ALOXE3	0	LGGM	GRCh37	17	8021690	8021690	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	6	4	.	.	ENST00000318227.3:c.84-69G>T		*28*	ENST00000318227	NM_001165960.1			0	1		UPI00000477E4	0		ENST00000448843		ENSG00000179148	13743		10			HGNC	p.R29S		ALOXE3		SNV			1				ENST00000380149	protein_coding							A		-/3203								ALOXE3,missense_variant,p.Arg29Ser,ENST00000380149,;ALOXE3,intron_variant,,ENST00000448843,NM_021628.2;ALOXE3,intron_variant,,ENST00000318227,NM_001165960.1;HES7,downstream_gene_variant,,ENST00000541682,NM_032580.3,NM_001165967.1;HES7,downstream_gene_variant,,ENST00000317814,;HES7,downstream_gene_variant,,ENST00000577735,;							MODIFIER	-/2136		LOXE3_HUMAN			Transcript			.	ENSP00000400581		CCDS11130.1			1	
IGKV3-15	0	LGGM	GRCh37	2	89384824	89384824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	69	4	.	.	ENST00000390252.2:c.194G>T	p.Arg65Met	p.R65M	ENST00000390252		65	aGg/aTg	0	1	1	UPI0000113B53	0		ENST00000390252		ENSG00000244437	5816		73			HGNC	p.R65M		IGKV3-15		SNV							ENST00000390252	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/M		A		291/442			deleterious(0.01)				YES	IGKV3-15,missense_variant,p.Arg65Met,ENST00000390252,;							MODERATE	194/345					Transcript		probably_damaging(0.978)	.	ENSP00000374787					1	
MGAM	0	LGGM	GRCh37	7	141794444	141794444	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	61	4	.	.	ENST00000549489.2:c.4643G>A	p.Gly1548Asp	p.G1548D	ENST00000549489	NM_004668.2	1548	gGc/gAc	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=1215&to=1717&var=G1548D	ENST00000549489		ENSG00000257335	7043		65	4.73		HGNC	p.G1548D	COSM385585,COSM385584	MGAM		SNV						1,1	ENST00000549489	protein_coding	getma.org/?cm=var&var=hg19,7,141794444,G,A&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055		G/D		A	high	4738/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=1215&re=1717&var=G1548D	deleterious(0)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Gly2444Asp,ENST00000475668,;MGAM,missense_variant,p.Gly1548Asp,ENST00000549489,NM_004668.2;MGAM,upstream_gene_variant,,ENST00000485078,;					1,1		MODERATE	4643/5574	G1548D	MGA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000447378		CCDS47727.1			1	
ANKRD32	0	LGGM	GRCh37	5	94027275	94027275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	20	4	.	.	ENST00000265140.5:c.2426C>A	p.Thr809Lys	p.T809K	ENST00000265140	NM_032290.3	809	aCa/aAa	0	1	1	UPI000066D9F9	0	getma.org/pdb.php?prot=ANR32_HUMAN&from=783&to=871&var=T809K	ENST00000265140		ENSG00000133302	25408	0.0136	24	3.35		HGNC	p.T809K	rs772116728,COSM1311398,COSM1311397	ANKRD32	0.0015	SNV				0.00464		0,1,1	ENST00000265140	protein_coding	getma.org/?cm=var&var=hg19,5,94027275,C,A&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		T/K		A	medium	2845/5905	0.00267	getma.org/?cm=msa&ty=f&p=ANR32_HUMAN&rb=783&re=871&var=T809K	deleterious(0)	I6L9F1_HUMAN,D6RED9_HUMAN			YES	ANKRD32,missense_variant,p.Thr809Lys,ENST00000265140,NM_032290.3;ANKRD32,upstream_gene_variant,,ENST00000493934,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000450932,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000475916,;	0.0072				0,1,1		MODERATE	2426/3177	T809K	ANR32_HUMAN	0.0116		Transcript		probably_damaging(1)	common_variant	ENSP00000265140	0.00412	CCDS4071.2	0.00403		1	
TUBA8	0	LGGM	GRCh37	22	18609254	18609254	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	96	4	.	.	ENST00000330423.3:c.509C>T	p.Ala170Val	p.A170V	ENST00000330423	NM_018943.2	170	gCc/gTc	0	1	1	UPI0000136990	0	getma.org/pdb.php?prot=TBA8_HUMAN&from=3&to=226&var=A170V	ENST00000330423		ENSG00000183785	12410		100	1.46		HGNC	p.A194V	rs747963583	TUBA8	6.06E-05	SNV			1				ENST00000416740	protein_coding	getma.org/?cm=var&var=hg19,22,18609254,C,T&fts=all		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF52,Gene3D:3.40.50.1440,Pfam_domain:PF00091,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01162,Prints_domain:PR01161		A/V		T	low	582/2018		getma.org/?cm=msa&ty=f&p=TBA8_HUMAN&rb=3&re=226&var=A170V	tolerated_low_confidence(0.09)	C9K0S6_HUMAN			YES	TUBA8,missense_variant,p.Ala170Val,ENST00000330423,NM_018943.2;TUBA8,missense_variant,p.Ala194Val,ENST00000416740,;TUBA8,missense_variant,p.Ala104Val,ENST00000316027,NM_001193414.1;TUBA8,upstream_gene_variant,,ENST00000608634,;TUBA8,downstream_gene_variant,,ENST00000426208,;PEX26,3_prime_UTR_variant,,ENST00000474897,;							MODERATE	509/1350	A170V	TBA8_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000333326	8.24E-06	CCDS13751.1			1	
TSPAN17	0	LGGM	GRCh37	5	176083787	176083787	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	13	6	.	.	ENST00000310032.8:c.726G>C	p.Ala242=	p.A242=	ENST00000310032	NM_012171.2	242	gcG/gcC	0	1	1	UPI00004542F1	0		ENST00000310032		ENSG00000048140	13594		19			HGNC	p.A227A		TSPAN17		SNV							ENST00000504168	protein_coding			Pfam_domain:PF00335,Prints_domain:PR00259,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF64,Transmembrane_helices:TMhelix		A		C		955/2550				J3KNG2_HUMAN			YES	TSPAN17,synonymous_variant,p.=,ENST00000298564,;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,synonymous_variant,p.=,ENST00000507471,;TSPAN17,3_prime_UTR_variant,,ENST00000503030,;TSPAN17,non_coding_transcript_exon_variant,,ENST00000514705,;							LOW	726/999					Transcript			.	ENSP00000309036		CCDS34298.1			1	
NASP	0	LGGM	GRCh37	1	46080740	46080740	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	45	6	.	.	ENST00000350030.3:c.1722G>T	p.Gln574His	p.Q574H	ENST00000350030	NM_002482.3	574	caG/caT	0	1	1	UPI000012FDA0	0	NA	ENST00000350030		ENSG00000132780	7644		51	1.15		HGNC	p.Q235H		NASP		SNV							ENST00000437901	protein_coding	getma.org/?cm=var&var=hg19,1,46080740,G,T&fts=all		Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,Pfam_domain:PF10516,hmmpanther:PTHR15081:SF1,hmmpanther:PTHR15081,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005		Q/H		T	low	1809/3207		getma.org/?cm=msa&ty=f&p=NASP_HUMAN&rb=542&re=579&var=Q574H	tolerated(0.05)	Q9P1N1_HUMAN,B4DS57_HUMAN			YES	NASP,missense_variant,p.Gln574His,ENST00000350030,NM_002482.3;NASP,missense_variant,p.Gln576His,ENST00000402363,;NASP,missense_variant,p.Gln510His,ENST00000537798,NM_001195193.1;NASP,missense_variant,p.Gln235His,ENST00000351223,NM_152298.3;NASP,missense_variant,p.Gln208His,ENST00000372052,;NASP,missense_variant,p.Gln99His,ENST00000531612,;NASP,missense_variant,p.Gln171His,ENST00000528238,;NASP,missense_variant,p.Gln235His,ENST00000437901,;NASP,missense_variant,p.Gln4His,ENST00000534450,;CCDC17,downstream_gene_variant,,ENST00000421127,NM_001190182.1,NM_001114938.2;CCDC17,downstream_gene_variant,,ENST00000343901,;NASP,downstream_gene_variant,,ENST00000525515,;NASP,non_coding_transcript_exon_variant,,ENST00000530073,;NASP,3_prime_UTR_variant,,ENST00000453748,;NASP,3_prime_UTR_variant,,ENST00000437362,;NASP,3_prime_UTR_variant,,ENST00000527359,;NASP,non_coding_transcript_exon_variant,,ENST00000481782,;NASP,non_coding_transcript_exon_variant,,ENST00000527932,;CCDC17,downstream_gene_variant,,ENST00000482416,;CCDC17,downstream_gene_variant,,ENST00000491755,;CCDC17,downstream_gene_variant,,ENST00000372044,;NASP,upstream_gene_variant,,ENST00000472408,;							MODERATE	1722/2367	Q574H	NASP_HUMAN			Transcript		benign(0.071)	.	ENSP00000255120		CCDS524.1			1	
UXS1	0	LGGM	GRCh37	2	106780152	106780152	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	10	6	.	.	ENST00000283148.7:c.201A>C	p.Leu67=	p.L67=	ENST00000283148	NM_001253875.1	67	ctA/ctC	0	1		UPI0000047828	0		ENST00000409501		ENSG00000115652	17729		16			HGNC	p.L5L		UXS1		SNV							ENST00000457835	protein_coding			Pfam_domain:PF11803		L		G		244/1839				Q8ND26_HUMAN,C9JW33_HUMAN,C9JFU6_HUMAN,C9JCB7_HUMAN,C9J3T9_HUMAN,B3KV61_HUMAN				UXS1,synonymous_variant,p.=,ENST00000283148,NM_001253875.1,NM_025076.4;UXS1,synonymous_variant,p.=,ENST00000540130,;UXS1,synonymous_variant,p.=,ENST00000409501,;UXS1,synonymous_variant,p.=,ENST00000457835,;UXS1,intron_variant,,ENST00000428048,;UXS1,intron_variant,,ENST00000441952,;UXS1,upstream_gene_variant,,ENST00000444193,;UXS1,upstream_gene_variant,,ENST00000416298,;UXS1,non_coding_transcript_exon_variant,,ENST00000483426,;UXS1,non_coding_transcript_exon_variant,,ENST00000474920,;UXS1,upstream_gene_variant,,ENST00000479621,;UXS1,upstream_gene_variant,,ENST00000479774,;							LOW	186/1263		UXS1_HUMAN			Transcript			.	ENSP00000387019		CCDS46378.1			1	
AL360004.1	0	LGGM	GRCh37	9	132904186	132904186	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	18	6	.	.	ENST00000358748.1:c.196G>A	p.Asp66Asn	p.D66N	ENST00000358748		66	Gat/Aat	0	1	1	UPI00004577C0	0		ENST00000358748		ENSG00000196979			24			Clone_based_ensembl_gene	p.D66N		AL360004.1		SNV							ENST00000358748	protein_coding			hmmpanther:PTHR16213:SF38,hmmpanther:PTHR16213		D/N		T		1961/3258				F2Z3C2_HUMAN			YES	AL360004.1,missense_variant,p.Asp66Asn,ENST00000358748,;GPR107,downstream_gene_variant,,ENST00000372406,NM_001136557.1;GPR107,downstream_gene_variant,,ENST00000347136,NM_020960.4;GPR107,downstream_gene_variant,,ENST00000372410,NM_001136558.1;							MODERATE	196/570					Transcript		unknown(0)	.	ENSP00000351598					1	
SNX12	0	LGGM	GRCh37	X	70282722	70282722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	15	7	.	.	ENST00000374274.3:c.243G>T	p.Glu81Asp	p.E81D	ENST00000374274	NM_001256188.1	81	gaG/gaT	0	1	1	UPI000000409E	0	getma.org/pdb.php?prot=SNX12_HUMAN&from=27&to=149&var=E81D	ENST00000374274		ENSG00000147164	14976		22	2.185		HGNC	p.E77D		SNX12		SNV							ENST00000276105	protein_coding	getma.org/?cm=var&var=hg19,X,70282722,C,A&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF72,SMART_domains:SM00312,Superfamily_domains:SSF64268		E/D		A	medium	360/2376		getma.org/?cm=msa&ty=f&p=SNX12_HUMAN&rb=27&re=149&var=E81D	tolerated(0.36)	Q3SYF1_HUMAN			YES	SNX12,missense_variant,p.Glu81Asp,ENST00000374274,NM_001256188.1,NM_013346.3,NM_001256185.1;SNX12,missense_variant,p.Glu77Asp,ENST00000276105,;SNX12,non_coding_transcript_exon_variant,,ENST00000465030,;SNX12,non_coding_transcript_exon_variant,,ENST00000490561,;SNX12,non_coding_transcript_exon_variant,,ENST00000483560,;							MODERATE	243/489	E81D	SNX12_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000363392		CCDS14405.1			1	
SYNPO	0	LGGM	GRCh37	5	150028745	150028745	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	17	7	.	.	ENST00000394243.1:c.1640G>A	p.Arg547Gln	p.R547Q	ENST00000394243	NM_001166208.1	547	cGa/cAa	0	1	1	UPI000013F943	0	NA	ENST00000394243		ENSG00000171992	30672		24	0.805		HGNC	p.R547Q	rs769828820	SYNPO	6.06E-05	SNV							ENST00000522122	protein_coding	getma.org/?cm=var&var=hg19,5,150028745,G,A&fts=all		hmmpanther:PTHR24217:SF11,hmmpanther:PTHR24217		R/Q		A	low	2014/7063	4.52E-05	getma.org/?cm=msa&ty=f&p=SYNPO_HUMAN&rb=401&re=600&var=R547Q	tolerated(0.07)	Q71HJ6_HUMAN			YES	SYNPO,missense_variant,p.Arg547Gln,ENST00000394243,NM_001166208.1;SYNPO,missense_variant,p.Arg303Gln,ENST00000307662,NM_007286.5;SYNPO,missense_variant,p.Arg547Gln,ENST00000522122,NM_001166209.1;SYNPO,missense_variant,p.Arg303Gln,ENST00000519664,NM_001109974.2;SYNPO,downstream_gene_variant,,ENST00000518872,;							MODERATE	1640/2790	R547Q	SYNPO_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000377789	3.29E-05	CCDS54937.1			1	
OTOF	0	LGGM	GRCh37	2	26696950	26696950	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	7	8	.	.	ENST00000272371.2:c.3317C>A	p.Pro1106His	p.P1106H	ENST00000272371	NM_194248.2	1106	cCc/cAc	0	1	1	UPI000013D94D	0	NA	ENST00000272371		ENSG00000115155	8515		15	3.18		HGNC	p.P359H		OTOF		SNV			1				ENST00000339598	protein_coding	getma.org/?cm=var&var=hg19,2,26696950,G,T&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32		P/H		T	medium	3444/7156		getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=1053&re=1139&var=P1106H	deleterious(0)				YES	OTOF,missense_variant,p.Pro1106His,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Pro1106His,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Pro416His,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Pro359His,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Pro359His,ENST00000339598,NM_194323.2;OTOF,upstream_gene_variant,,ENST00000426958,;							MODERATE	3317/5994	P1106H	OTOF_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000272371		CCDS1725.1			1	
STX16	0	LGGM	GRCh37	20	57245653	57245653	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	29	8	.	.	ENST00000371141.4:c.642C>G	p.Tyr214Ter	p.Y214*	ENST00000371141	NM_001001433.2	214	taC/taG	0	1	1	UPI0000376BCD	0	NA	ENST00000371141		ENSG00000124222	11431		37	0		HGNC	p.Y197X		STX16		SNV			1				ENST00000464640	protein_coding	getma.org/?cm=var&var=hg19,20,57245653,C,G&fts=all		hmmpanther:PTHR19957:SF79,hmmpanther:PTHR19957,Gene3D:1.20.58.70,Superfamily_domains:SSF47661		Y/*		G	NA	1366/4937		NA		F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN			YES	STX16,stop_gained,p.Tyr214Ter,ENST00000371141,NM_001001433.2;STX16,stop_gained,p.Tyr197Ter,ENST00000361770,;STX16,stop_gained,p.Tyr197Ter,ENST00000355957,NM_001134773.2;STX16,stop_gained,p.Tyr193Ter,ENST00000371132,NM_001134772.2,NM_003763.5;STX16,stop_gained,p.Tyr210Ter,ENST00000358029,;STX16,stop_gained,p.Tyr161Ter,ENST00000359617,NM_001204868.1;STX16,stop_gained,p.Tyr214Ter,ENST00000361830,;STX16,stop_gained,p.Tyr156Ter,ENST00000438253,;STX16,stop_gained,p.Tyr161Ter,ENST00000312283,;STX16,downstream_gene_variant,,ENST00000412911,;STX16,downstream_gene_variant,,ENST00000458280,;STX16,non_coding_transcript_exon_variant,,ENST00000496003,;STX16,non_coding_transcript_exon_variant,,ENST00000468590,;STX16,non_coding_transcript_exon_variant,,ENST00000490700,;STX16,non_coding_transcript_exon_variant,,ENST00000496117,;STX16-NPEPL1,stop_gained,p.Tyr214Ter,ENST00000530122,;STX16,stop_gained,p.Tyr197Ter,ENST00000464640,;STX16,3_prime_UTR_variant,,ENST00000467096,;STX16,3_prime_UTR_variant,,ENST00000476384,;STX16,3_prime_UTR_variant,,ENST00000483434,;STX16,3_prime_UTR_variant,,ENST00000493301,;STX16,downstream_gene_variant,,ENST00000460655,;STX16-NPEPL1,upstream_gene_variant,,ENST00000413559,;							HIGH	642/978	Y214*	STX16_HUMAN			Transcript			.	ENSP00000360183		CCDS13468.1			1	
FGD1	0	LGGM	GRCh37	X	54472601	54472601	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	8	8	.	.	ENST00000375135.3:c.2827G>T	p.Ala943Ser	p.A943S	ENST00000375135	NM_004463.2	943	Gct/Tct	0	1	1	UPI000012A705	0	NA	ENST00000375135		ENSG00000102302	3663		16	0		HGNC	p.A943S		FGD1		SNV			1				ENST00000375135	protein_coding	getma.org/?cm=var&var=hg19,X,54472601,C,A&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79		A/S		A	neutral	3561/4275		getma.org/?cm=msa&ty=f&p=FGD1_HUMAN&rb=921&re=961&var=A943S	deleterious_low_confidence(0.02)				YES	FGD1,missense_variant,p.Ala943Ser,ENST00000375135,NM_004463.2;TSR2,downstream_gene_variant,,ENST00000375151,NM_058163.1;							MODERATE	2827/2886	A943S	FGD1_HUMAN			Transcript		benign(0.364)	.	ENSP00000364277		CCDS14359.1			1	
UBQLN3	0	LGGM	GRCh37	11	5530365	5530365	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	17	8	.	.	ENST00000311659.4:c.424A>T	p.Arg142Trp	p.R142W	ENST00000311659	NM_017481.2	142	Agg/Tgg	0	1	1	UPI000006E3A0	0	NA	ENST00000311659		ENSG00000175520	12510		25	0.55		HGNC	p.R142W		UBQLN3		SNV							ENST00000445998	protein_coding	getma.org/?cm=var&var=hg19,11,5530365,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF4		R/W		A	neutral	572/2407		getma.org/?cm=msa&ty=f&p=UBQL3_HUMAN&rb=95&re=294&var=R142W	deleterious(0.01)	C9IYQ4_HUMAN			YES	UBQLN3,missense_variant,p.Arg142Trp,ENST00000311659,NM_017481.2;UBQLN3,missense_variant,p.Arg142Trp,ENST00000445998,;HBG2,intron_variant,,ENST00000380259,;HBE1,upstream_gene_variant,,ENST00000380237,;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,;							MODERATE	424/1968	R142W	UBQL3_HUMAN			Transcript		benign(0.379)	.	ENSP00000347997		CCDS7758.1			1	
FMN2	0	LGGM	GRCh37	1	240371727	240371727	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	17	8	.	.	ENST00000319653.9:c.3615G>C	p.Gly1205=	p.G1205=	ENST00000319653	NM_020066.4	1205	ggG/ggC	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		25			HGNC	p.G1205G		FMN2		SNV			1				ENST00000319653	protein_coding			Pfam_domain:PF06346,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,Low_complexity_(Seg):seg,SMART_domains:SM00498		G		C		3845/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,synonymous_variant,p.=,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;							LOW	3615/5169		FMN2_HUMAN			Transcript			.	ENSP00000318884		CCDS31069.2			1	
FOXN1	0	LGGM	GRCh37	17	26862017	26862017	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	13	8	.	.	ENST00000226247.2:c.1428C>T	p.Asp476=	p.D476=	ENST00000226247	NM_003593.2	476	gaC/gaT	0	1	1	UPI000012ADE6	0		ENST00000226247		ENSG00000109101	12765		21			HGNC	p.D476D	rs745515677	FOXN1		SNV			1	9.88E-05			ENST00000226247	protein_coding			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71		D		T		1457/3436				J3KRT9_HUMAN			YES	FOXN1,synonymous_variant,p.=,ENST00000226247,NM_003593.2;FOXN1,synonymous_variant,p.=,ENST00000579795,;RP11-192H23.4,intron_variant,,ENST00000481916,;							LOW	1428/1947		FOXN1_HUMAN			Transcript			.	ENSP00000226247	8.24E-06	CCDS11232.1			1	
SBF1	0	LGGM	GRCh37	22	50899661	50899661	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	5	10	.	.	ENST00000380817.3:c.2894A>C	p.Lys965Thr	p.K965T	ENST00000380817	NM_002972.2	965	aAg/aCg	0	1	1	UPI00001D69ED	0	NA	ENST00000380817		ENSG00000100241	10542		15	2.3		HGNC	p.K965T		SBF1		SNV			1				ENST00000380817	protein_coding	getma.org/?cm=var&var=hg19,22,50899661,T,G&fts=all		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF02893,SMART_domains:SM00568,Superfamily_domains:SSF50729		K/T		G	medium	3078/8008		getma.org/?cm=msa&ty=f&p=MTMR5_HUMAN&rb=882&re=968&var=K965T	deleterious(0)	Q86TK5_HUMAN			YES	SBF1,missense_variant,p.Lys965Thr,ENST00000380817,NM_002972.2;SBF1,missense_variant,p.Lys966Thr,ENST00000348911,;SBF1,missense_variant,p.Lys965Thr,ENST00000390679,;SBF1,upstream_gene_variant,,ENST00000476293,;SBF1,downstream_gene_variant,,ENST00000477234,;							MODERATE	2894/5682	K965T	MTMR5_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000370196		CCDS14091.2			1	
FGD1	0	LGGM	GRCh37	X	54472542	54472542	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	5	10	.	.	ENST00000375135.3:c.2886G>T	p.Ter962TyrextTer33	p.*962Yext*33	ENST00000375135	NM_004463.2	962	taG/taT	0	1	1	UPI000012A705	0		ENST00000375135		ENSG00000102302	3663		15			HGNC	p.X962Y		FGD1		SNV			1				ENST00000375135	protein_coding					*/Y		A		3620/4275							YES	FGD1,stop_lost,p.Ter962TyrextTer33,ENST00000375135,NM_004463.2;TSR2,downstream_gene_variant,,ENST00000375151,NM_058163.1;							HIGH	2886/2886		FGD1_HUMAN			Transcript			.	ENSP00000364277		CCDS14359.1			1	
KANK3	0	LGGM	GRCh37	19	8398112	8398112	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	6	10	.	.	ENST00000330915.3:c.1722C>T	p.Gly574=	p.G574=	ENST00000330915	NM_198471.2	574	ggC/ggT	0	1		UPI000024321F	0		ENST00000593649		ENSG00000186994	24796		16			HGNC	p.G574G		KANK3		SNV							ENST00000593649	protein_coding			hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF22		G		A		1788/2672								KANK3,splice_region_variant,p.=,ENST00000330915,NM_198471.2;KANK3,splice_region_variant,p.=,ENST00000593649,;KANK3,splice_region_variant,p.=,ENST00000595639,;KANK3,downstream_gene_variant,,ENST00000593331,;							LOW	1722/2523		KANK3_HUMAN			Transcript			.	ENSP00000470728					1	
ZNF512	0	LGGM	GRCh37	2	27830802	27830802	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	11	11	.	.	ENST00000355467.4:c.1027G>A	p.Ala343Thr	p.A343T	ENST00000355467	NM_001271289.1	343	Gcc/Acc	0	1	1	UPI0000141030	0	NA	ENST00000355467		ENSG00000243943	29380		22	1.83		HGNC	p.A314T		ZNF512		SNV							ENST00000416005	protein_coding	getma.org/?cm=var&var=hg19,2,27830802,G,A&fts=all		hmmpanther:PTHR22979:SF2,hmmpanther:PTHR22979		A/T		A	low	1110/3541		getma.org/?cm=msa&ty=f&p=ZN512_HUMAN&rb=311&re=439&var=A343T	deleterious(0)	Q658M0_HUMAN			YES	ZNF512,missense_variant,p.Ala343Thr,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,missense_variant,p.Ala342Thr,ENST00000379717,;ZNF512,missense_variant,p.Ala314Thr,ENST00000416005,NM_001271286.1;ZNF512,missense_variant,p.Ala266Thr,ENST00000413371,;ZNF512,missense_variant,p.Ala212Thr,ENST00000556601,;RP11-158I13.2,non_coding_transcript_exon_variant,,ENST00000505973,;							MODERATE	1027/1704	A343T	ZN512_HUMAN			Transcript		benign(0.081)	.	ENSP00000347648		CCDS1758.1			1	
STAB1	0	LGGM	GRCh37	3	52551023	52551023	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	11	12	.	.	ENST00000321725.6:c.4387C>T	p.His1463Tyr	p.H1463Y	ENST00000321725	NM_015136.2	1463	Cat/Tat	0	1	1	UPI0000140C12	0	NA	ENST00000321725		ENSG00000010327	18628		23	1.7		HGNC	p.H1463Y		STAB1		SNV							ENST00000321725	protein_coding	getma.org/?cm=var&var=hg19,3,52551023,C,T&fts=all		SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF12947,Gene3D:2.10.25.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50026		H/Y		T	low	4463/7928		getma.org/?cm=msa&ty=f&p=STAB1_HUMAN&rb=1459&re=1495&var=H1463Y	deleterious(0.05)				YES	STAB1,missense_variant,p.His1463Tyr,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,;							MODERATE	4387/7713	H1463Y	STAB1_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000312946		CCDS33768.1			1	
IL17RC	0	LGGM	GRCh37	3	9959054	9959054	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	20	12	.	.	ENST00000295981.3:c.55C>T	p.Leu19Phe	p.L19F	ENST00000295981	NM_153461.3	19	Ctt/Ttt	0	1	1	UPI000013E2E3	0	NA	ENST00000295981		ENSG00000163702	18358		32	1.495		HGNC	p.L19F		IL17RC		SNV			1				ENST00000436503	protein_coding	getma.org/?cm=var&var=hg19,3,9959054,C,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM		L/F		T	low	273/2621		getma.org/?cm=msa&ty=f&p=I17RC_HUMAN&rb=1&re=200&var=L19F	deleterious_low_confidence(0.03)				YES	IL17RC,missense_variant,p.Leu19Phe,ENST00000295981,NM_153461.3;IL17RC,missense_variant,p.Leu19Phe,ENST00000403601,NM_153460.3;IL17RC,missense_variant,p.Leu19Phe,ENST00000383812,NM_032732.5;IL17RC,missense_variant,p.Leu19Phe,ENST00000455057,NM_001203265.1;IL17RC,missense_variant,p.Leu19Phe,ENST00000413608,NM_001203263.1,NM_001203264.1;IL17RC,missense_variant,p.Leu19Phe,ENST00000436503,;IL17RC,missense_variant,p.Leu19Phe,ENST00000438091,;IL17RC,5_prime_UTR_variant,,ENST00000416074,;IL17RE,downstream_gene_variant,,ENST00000454190,NM_001193380.1;IL17RE,downstream_gene_variant,,ENST00000295980,NM_153483.2;IL17RE,downstream_gene_variant,,ENST00000383814,NM_153480.1;IL17RE,downstream_gene_variant,,ENST00000421412,;RNU6-882P,downstream_gene_variant,,ENST00000391025,;IL17RC,non_coding_transcript_exon_variant,,ENST00000498214,;IL17RC,missense_variant,p.Leu19Phe,ENST00000451271,;IL17RC,missense_variant,p.Leu19Phe,ENST00000451231,;IL17RC,missense_variant,p.Leu19Phe,ENST00000412901,;IL17RC,missense_variant,p.Leu19Phe,ENST00000451165,;IL17RC,missense_variant,p.Leu19Phe,ENST00000476810,;IL17RC,missense_variant,p.Leu19Phe,ENST00000424206,;IL17RC,missense_variant,p.Leu19Phe,ENST00000434756,;IL17RC,missense_variant,p.Leu19Phe,ENST00000440502,;IL17RC,non_coding_transcript_exon_variant,,ENST00000466046,;IL17RC,non_coding_transcript_exon_variant,,ENST00000494365,;IL17RC,non_coding_transcript_exon_variant,,ENST00000483582,;IL17RC,non_coding_transcript_exon_variant,,ENST00000490512,;IL17RC,non_coding_transcript_exon_variant,,ENST00000469686,;IL17RC,non_coding_transcript_exon_variant,,ENST00000481032,;IL17RC,non_coding_transcript_exon_variant,,ENST00000497102,;IL17RE,downstream_gene_variant,,ENST00000383815,;IL17RE,downstream_gene_variant,,ENST00000434065,NM_153481.1;IL17RC,upstream_gene_variant,,ENST00000478206,;							MODERATE	55/2376	L19F	I17RC_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000295981		CCDS2590.1			1	
ZDHHC6	0	LGGM	GRCh37	10	114190592	114190592	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	22	12	.	.	ENST00000369405.3:c.1212A>G	p.Gln404=	p.Q404=	ENST00000369405	NM_022494.1	404	caA/caG	0	1	1	UPI00000373E8	0		ENST00000369405		ENSG00000023041	19160		34			HGNC	p.Q404Q		ZDHHC6		SNV							ENST00000369405	protein_coding					Q		C		1636/2170							YES	ZDHHC6,synonymous_variant,p.=,ENST00000369405,NM_022494.1;ZDHHC6,synonymous_variant,p.=,ENST00000369404,;ACSL5,downstream_gene_variant,,ENST00000393081,NM_203380.1;ACSL5,downstream_gene_variant,,ENST00000356116,NM_016234.3;ACSL5,downstream_gene_variant,,ENST00000354273,;ACSL5,downstream_gene_variant,,ENST00000354655,NM_203379.1;ACSL5,downstream_gene_variant,,ENST00000433418,;ACSL5,downstream_gene_variant,,ENST00000369410,;ZDHHC6,non_coding_transcript_exon_variant,,ENST00000482410,;ZDHHC6,non_coding_transcript_exon_variant,,ENST00000471035,;ACSL5,downstream_gene_variant,,ENST00000496328,;							LOW	1212/1242		ZDHC6_HUMAN			Transcript			.	ENSP00000358413		CCDS7574.1			1	
DCAF8L1	0	LGGM	GRCh37	X	27998898	27998898	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	16	13	.	.	ENST00000441525.1:c.554G>A	p.Arg185His	p.R185H	ENST00000441525	NM_001017930.1	185	cGt/cAt	0	1	1	UPI000022DD1B	0	NA	ENST00000441525		ENSG00000226372	31810		29	1.67		HGNC	p.R185H	rs778270304,COSM1119707	DCAF8L1		SNV				0.000135		0,1	ENST00000441525	protein_coding	getma.org/?cm=var&var=hg19,X,27998898,C,T&fts=all		hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/H		T	low	669/3457		getma.org/?cm=msa&ty=f&p=DC8L1_HUMAN&rb=119&re=186&var=R185H	deleterious(0.01)				YES	DCAF8L1,missense_variant,p.Arg185His,ENST00000441525,NM_001017930.1;					0,1		MODERATE	554/1803	R185H	DC8L1_HUMAN			Transcript		benign(0.313)	.	ENSP00000405222	8.24E-06	CCDS35222.1			1	
SPN	0	LGGM	GRCh37	16	29675834	29675834	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	28	13	.	.	ENST00000360121.3:c.785T>C	p.Val262Ala	p.V262A	ENST00000360121	NM_001030288.2	262	gTg/gCg	0	1	1	UPI000012E5AA	0	NA	ENST00000360121		ENSG00000197471	11249		41	1.525		HGNC	p.V262A	rs751642224	SPN	6.12E-05	SNV							ENST00000395389	protein_coding	getma.org/?cm=var&var=hg19,16,29675834,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		V/A		C	low	877/6854		getma.org/?cm=msa&ty=f&p=LEUK_HUMAN&rb=1&re=269&var=V262A	tolerated(0.07)	C9JUK7_HUMAN,A8K9B1_HUMAN			YES	SPN,missense_variant,p.Val262Ala,ENST00000360121,NM_001030288.2,NM_003123.4;SPN,missense_variant,p.Val262Ala,ENST00000395389,;SPN,missense_variant,p.Val262Ala,ENST00000436527,;QPRT,intron_variant,,ENST00000449759,;SPN,missense_variant,p.Val262Ala,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;							MODERATE	785/1203	V262A	LEUK_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000353238	8.24E-06	CCDS10650.1			1	
ACLY	0	LGGM	GRCh37	17	40065890	40065890	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	26	13	.	.	ENST00000352035.2:c.409G>A	p.Glu137Lys	p.E137K	ENST00000352035	NM_001096.2	137	Gag/Aag	0	1	1	UPI000013CDF3	0	getma.org/pdb.php?prot=ACLY_HUMAN&from=29&to=207&var=E137K	ENST00000352035		ENSG00000131473	115	0.000173	39	2.26		HGNC	p.E137K	rs782128270	ACLY		SNV				9.61E-05			ENST00000393896	protein_coding	getma.org/?cm=var&var=hg19,17,40065890,C,T&fts=all		Superfamily_domains:SSF56059,PIRSF_domain:PIRSF036511,Gene3D:3.30.470.20,Pfam_domain:PF08442,hmmpanther:PTHR23118		E/K		T	medium	540/4339		getma.org/?cm=msa&ty=f&p=ACLY_HUMAN&rb=29&re=207&var=E137K	deleterious(0.02)	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN			YES	ACLY,missense_variant,p.Glu137Lys,ENST00000352035,NM_001096.2;ACLY,missense_variant,p.Glu137Lys,ENST00000353196,NM_198830.1;ACLY,missense_variant,p.Glu137Lys,ENST00000590151,;ACLY,missense_variant,p.Glu137Lys,ENST00000393896,;ACLY,intron_variant,,ENST00000537919,;ACLY,intron_variant,,ENST00000590770,;ACLY,downstream_gene_variant,,ENST00000592970,;ACLY,non_coding_transcript_exon_variant,,ENST00000590735,;ACLY,upstream_gene_variant,,ENST00000588547,;							MODERATE	409/3306	E137K	ACLY_HUMAN			Transcript		benign(0.19)	.	ENSP00000253792	2.47E-05	CCDS11412.1			1	
ANO5	0	LGGM	GRCh37	11	22272532	22272532	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	19	14	.	.	ENST00000324559.8:c.1155del	p.Phe386LeufsTer41	p.F386Lfs*41	ENST00000324559	NM_001142649.1	385	ttC/tt	0	1	1	UPI000035B19B	0		ENST00000324559		ENSG00000171714	27337		33			HGNC	p.F385fs		ANO5		deletion			1				ENST00000324559	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547		F/X		-		1472/6651							YES	ANO5,frameshift_variant,p.Phe386LeufsTer41,ENST00000324559,NM_001142649.1,NM_213599.2;							HIGH	1155/2742		ANO5_HUMAN			Transcript			.	ENSP00000315371		CCDS31444.1			1	
PHF20	0	LGGM	GRCh37	20	34487367	34487367	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	21	14	.	.	ENST00000374012.3:c.1358G>C	p.Arg453Thr	p.R453T	ENST00000374012		453	aGa/aCa	0	1	1	UPI000006E61B	0	NA	ENST00000374012		ENSG00000025293	16098		35	1.355		HGNC	p.R453T		PHF20		SNV							ENST00000339089	protein_coding	getma.org/?cm=var&var=hg19,20,34487367,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF27		R/T		C	low	1487/5922		getma.org/?cm=msa&ty=f&p=PHF20_HUMAN&rb=280&re=479&var=R453T	tolerated(0.07)	Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN			YES	PHF20,missense_variant,p.Arg453Thr,ENST00000374012,;PHF20,missense_variant,p.Arg453Thr,ENST00000339089,;PHF20,missense_variant,p.Arg453Thr,ENST00000374000,;PHF20,3_prime_UTR_variant,,ENST00000439301,NM_016436.4;PHF20,non_coding_transcript_exon_variant,,ENST00000481202,;PHF20,non_coding_transcript_exon_variant,,ENST00000495338,;							MODERATE	1358/3039	R453T	PHF20_HUMAN			Transcript		benign(0.056)	.	ENSP00000363124		CCDS13268.1			1	
TRIP6	0	LGGM	GRCh37	7	100466218	100466218	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	16	14	.	.	ENST00000200457.4:c.465C>G	p.Ala155=	p.A155=	ENST00000200457	NM_003302.2	155	gcC/gcG	0	1	1	UPI00000012CD	0		ENST00000200457		ENSG00000087077	12311		30			HGNC	p.A155A		TRIP6		SNV							ENST00000200457	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24212,hmmpanther:PTHR24212:SF7		A		G		825/1942				Q71V88_HUMAN			YES	TRIP6,synonymous_variant,p.=,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,;							LOW	465/1431		TRIP6_HUMAN			Transcript			.	ENSP00000200457		CCDS5708.1			1	
AGAP2	0	LGGM	GRCh37	12	58125172	58125172	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	32	15	.	.	ENST00000547588.1:c.2122C>A	p.Leu708Ile	p.L708I	ENST00000547588	NM_001122772.2	708	Cta/Ata	0	1	1	UPI00001AF80C	0	getma.org/pdb.php?prot=AGAP2_HUMAN&from=677&to=909&var=L708I	ENST00000547588		ENSG00000135439	16921		47	2.33		HGNC	p.L708I		AGAP2		SNV							ENST00000547588	protein_coding	getma.org/?cm=var&var=hg19,12,58125172,G,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF218,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		L/I		T	medium	2122/3579		getma.org/?cm=msa&ty=f&p=AGAP2_HUMAN&rb=677&re=909&var=L708I	deleterious(0.01)	F8VVT9_HUMAN,B3KVD5_HUMAN			YES	AGAP2,missense_variant,p.Leu572Ile,ENST00000328568,;AGAP2,missense_variant,p.Leu372Ile,ENST00000257897,NM_014770.3;AGAP2,missense_variant,p.Leu708Ile,ENST00000547588,NM_001122772.2;AGAP2,missense_variant,p.Leu64Ile,ENST00000549129,;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,;							MODERATE	2122/3579	L708I				Transcript		probably_damaging(0.969)	.	ENSP00000449241		CCDS44932.1			1	
DMD	0	LGGM	GRCh37	X	32613948	32613948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	34	15	.	.	ENST00000357033.4:c.1528C>T	p.Leu510Phe	p.L510F	ENST00000357033	NM_004007.2	510	Ctc/Ttc	0	1	1	UPI000049E111	0	NA	ENST00000357033		ENSG00000198947	2928		49	2.565		HGNC	p.L502F		DMD		SNV			1				ENST00000288447	protein_coding	getma.org/?cm=var&var=hg19,X,32613948,G,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		L/F		A	medium	1735/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=448&re=556&var=L510F		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			YES	DMD,missense_variant,p.Leu510Phe,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Leu506Phe,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Leu502Phe,ENST00000288447,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;DMD,intron_variant,,ENST00000480751,;							MODERATE	1528/11058	L510F				Transcript		probably_damaging(0.943)	.	ENSP00000354923		CCDS14233.1			1	
UNC80	0	LGGM	GRCh37	2	210685238	210685238	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	37	16	.	.	ENST00000439458.1:c.2166T>A	p.Ser722=	p.S722=	ENST00000439458	NM_032504.1	722	tcT/tcA	0	1	1	UPI00017E10C9	0		ENST00000439458		ENSG00000144406	26582		53			HGNC	p.S722S		UNC80		SNV							ENST00000439458	protein_coding			hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		S		A		2246/13562							YES	UNC80,synonymous_variant,p.=,ENST00000439458,NM_032504.1;UNC80,synonymous_variant,p.=,ENST00000272845,NM_182587.3;							LOW	2166/9777		UNC80_HUMAN			Transcript			.	ENSP00000391088		CCDS46504.1			1	
NRDE2	0	LGGM	GRCh37	14	90752735	90752735	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	25	16	.	.	ENST00000354366.3:c.3260A>G	p.Gln1087Arg	p.Q1087R	ENST00000354366	NM_017970.3	1087	cAg/cGg	0	1	1	UPI00001FD9DB	0	NA	ENST00000354366		ENSG00000119720	20186		41	0.42		HGNC	p.Q1087R		NRDE2		SNV							ENST00000354366	protein_coding	getma.org/?cm=var&var=hg19,14,90752735,T,C&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR13471		Q/R		C	neutral	3493/5828		getma.org/?cm=msa&ty=f&p=CN102_HUMAN&rb=1054&re=1164&var=Q1087R	tolerated(0.26)	Q658X2_HUMAN,E9PBK4_HUMAN			YES	NRDE2,missense_variant,p.Gln1087Arg,ENST00000354366,NM_017970.3;NRDE2,missense_variant,p.Gln856Arg,ENST00000357904,;NRDE2,downstream_gene_variant,,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,non_coding_transcript_exon_variant,,ENST00000555903,;							MODERATE	3260/3495	Q1087R	NRDE2_HUMAN			Transcript		benign(0.002)	.	ENSP00000346335		CCDS9890.1			1	
NPC1L1	0	LGGM	GRCh37	7	44579162	44579162	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	12	16	.	.	ENST00000289547.4:c.834G>T	p.Leu278=	p.L278=	ENST00000289547	NM_013389.2	278	ctG/ctT	0	1	1	UPI000013DF88	0		ENST00000289547		ENSG00000015520	7898		28			HGNC	p.L278L		NPC1L1		SNV			1				ENST00000289547	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89		L		A		890/5048							YES	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,;							LOW	834/4080		NPCL1_HUMAN			Transcript			.	ENSP00000289547		CCDS5491.1			1	
PCDHA2	0	LGGM	GRCh37	5	140176845	140176845	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	27	16	.	.	ENST00000526136.1:c.2296A>T	p.Lys766Ter	p.K766*	ENST00000526136	NM_018905.2	766	Aag/Tag	0	1	1	UPI00001273C9	0	NA	ENST00000526136		ENSG00000204969	8668		43	0		HGNC	p.K766X		PCDHA2		SNV							ENST00000520672	protein_coding	getma.org/?cm=var&var=hg19,5,140176845,A,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60		K/*		T	NA	2296/5254		NA					YES	PCDHA2,stop_gained,p.Lys766Ter,ENST00000526136,NM_018905.2;PCDHA2,stop_gained,p.Lys766Ter,ENST00000520672,NM_031496.1;PCDHA2,stop_gained,p.Lys766Ter,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;							HIGH	2296/2847	K766*	PCDA2_HUMAN			Transcript			.	ENSP00000431748		CCDS54914.1			1	
IFT122	0	LGGM	GRCh37	3	129238572	129238572	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	42	16	.	.	ENST00000296266.3:c.3786C>G	p.Phe1262Leu	p.F1262L	ENST00000296266	NM_052985.3	1262	ttC/ttG	0	1		UPI000006E33C	0	NA	ENST00000348417		ENSG00000163913	13556		58	1.2		HGNC	p.F1204L		IFT122		SNV			1				ENST00000507564	protein_coding	getma.org/?cm=var&var=hg19,3,129238572,C,G&fts=all		hmmpanther:PTHR12764:SF4,hmmpanther:PTHR12764		F/L		G	low	3710/3877		getma.org/?cm=msa&ty=f&p=IF122_HUMAN&rb=1150&re=1241&var=F1211L	tolerated(0.48)	Q7L8K0_HUMAN,H7C3C0_HUMAN				IFT122,missense_variant,p.Phe1262Leu,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Phe1061Leu,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Phe1211Leu,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Phe1152Leu,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Phe1204Leu,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Phe1101Leu,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Phe1002Leu,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Phe1088Leu,ENST00000504021,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000513190,;IFT122,non_coding_transcript_exon_variant,,ENST00000511425,;IFT122,downstream_gene_variant,,ENST00000504444,;							MODERATE	3633/3726	F1211L	IF122_HUMAN			Transcript		benign(0.005)	.	ENSP00000324005		CCDS3061.1			1	
ADAM18	0	LGGM	GRCh37	8	39495188	39495188	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	36	17	.	.	ENST00000265707.5:c.793A>T	p.Ile265Phe	p.I265F	ENST00000265707	NM_014237.2	265	Atc/Ttc	0	1	1	UPI00001254D7	0	getma.org/pdb.php?prot=ADA18_HUMAN&from=184&to=381&var=I265F	ENST00000265707		ENSG00000168619	196		53	1.04		HGNC	p.I241F		ADAM18		SNV							ENST00000379866	protein_coding	getma.org/?cm=var&var=hg19,8,39495188,A,T&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486		I/F		T	low	838/2388		getma.org/?cm=msa&ty=f&p=ADA18_HUMAN&rb=184&re=381&var=I265F	tolerated(0.78)	Q0VAI3_HUMAN,E5RK96_HUMAN			YES	ADAM18,missense_variant,p.Ile265Phe,ENST00000265707,NM_014237.2;ADAM18,missense_variant,p.Ile241Phe,ENST00000379866,;ADAM18,5_prime_UTR_variant,,ENST00000541111,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;							MODERATE	793/2220	I265F	ADA18_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000265707		CCDS6113.1			1	
OR8B12	0	LGGM	GRCh37	11	124412864	124412864	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	18	17	.	.	ENST00000306842.2:c.687T>C	p.Ser229=	p.S229=	ENST00000306842	NM_001005195.1	229	tcT/tcC	0	1	1	UPI0000041E25	0		ENST00000306842		ENSG00000170953	15307		35			HGNC	p.S229S		OR8B12		SNV							ENST00000306842	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF267,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		S		G		712/998							YES	OR8B12,synonymous_variant,p.=,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;							LOW	687/933		OR8BC_HUMAN			Transcript			.	ENSP00000307159		CCDS31711.1			1	
PIGG	0	LGGM	GRCh37	4	515016	515016	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	36	18	.	.	ENST00000453061.2:c.1286A>T	p.Gln429Leu	p.Q429L	ENST00000453061	NM_001127178.1	429	cAg/cTg	0	1	1	UPI00004C7A82	0	NA	ENST00000453061		ENSG00000174227	25985		54	1.95		HGNC	p.Q340L		PIGG		SNV							ENST00000504346	protein_coding	getma.org/?cm=var&var=hg19,4,515016,A,T&fts=all		hmmpanther:PTHR23072,hmmpanther:PTHR23072:SF0		Q/L		T	medium	1392/3218		getma.org/?cm=msa&ty=f&p=PIGG_HUMAN&rb=324&re=523&var=Q429L	deleterious(0.01)	E7EWV1_HUMAN,D6RC16_HUMAN			YES	PIGG,missense_variant,p.Gln429Leu,ENST00000453061,NM_001127178.1;PIGG,missense_variant,p.Gln429Leu,ENST00000310340,NM_017733.3;PIGG,missense_variant,p.Gln340Leu,ENST00000509768,;PIGG,missense_variant,p.Gln340Leu,ENST00000504346,;PIGG,missense_variant,p.Gln296Leu,ENST00000383028,;PIGG,missense_variant,p.Gln307Leu,ENST00000536264,;PIGG,intron_variant,,ENST00000296306,;PIGG,intron_variant,,ENST00000503111,;PIGG,upstream_gene_variant,,ENST00000510235,;PIGG,non_coding_transcript_exon_variant,,ENST00000506898,;PIGG,non_coding_transcript_exon_variant,,ENST00000507493,;PIGG,upstream_gene_variant,,ENST00000511247,;PIGG,upstream_gene_variant,,ENST00000503261,;PIGG,upstream_gene_variant,,ENST00000508562,;PIGG,upstream_gene_variant,,ENST00000513679,;PIGG,missense_variant,p.Gln429Leu,ENST00000506402,;PIGG,splice_region_variant,,ENST00000504187,;PIGG,upstream_gene_variant,,ENST00000508669,;							MODERATE	1286/2952	Q429L	PIGG_HUMAN			Transcript		benign(0.347)	.	ENSP00000415203		CCDS46992.1			1	
COL6A3	0	LGGM	GRCh37	2	238277416	238277416	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	44	18	.	.	ENST00000295550.4:c.4690C>T	p.Arg1564Cys	p.R1564C	ENST00000295550	NM_004369.3	1564	Cgt/Tgt	0	1	1	UPI0000456F39	0	getma.org/pdb.php?prot=CO6A3_HUMAN&from=1436&to=1609&var=R1564C	ENST00000295550		ENSG00000163359	2213		62	1.825		HGNC	p.R957C	rs200825417,COSM4092645	COL6A3	0.000242	SNV			1			0,1	ENST00000472056	protein_coding	getma.org/?cm=var&var=hg19,2,238277416,G,A&fts=all	T:0	Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300		R/C		A	low	5143/10749	4.50E-05	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1436&re=1609&var=R1564C		Q8N4Z1_HUMAN,D9ZGF2_HUMAN	T:0.0014	T:0	YES	COL6A3,missense_variant,p.Arg1564Cys,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Arg1363Cys,ENST00000347401,;COL6A3,missense_variant,p.Arg1358Cys,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Arg1364Cys,ENST00000346358,;COL6A3,missense_variant,p.Arg1358Cys,ENST00000409809,;COL6A3,missense_variant,p.Arg957Cys,ENST00000472056,NM_057166.4;COL6A3,downstream_gene_variant,,ENST00000392004,NM_057165.4;COL6A3,downstream_gene_variant,,ENST00000392003,NM_057164.4;		T:0.0002			0,1		MODERATE	4690/9534	R1564C	CO6A3_HUMAN		T:0	Transcript		probably_damaging(0.915)	.	ENSP00000295550	5.77E-05	CCDS33412.1		T:0	1	
CDCA2	0	LGGM	GRCh37	8	25323824	25323824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	32	18	.	.	ENST00000330560.3:c.521C>A	p.Ser174Tyr	p.S174Y	ENST00000330560	NM_152562.2	174	tCc/tAc	0	1	1	UPI000013DF9A	0	NA	ENST00000330560		ENSG00000184661	14623		50	1.355		HGNC	p.S159Y		CDCA2		SNV							ENST00000380665	protein_coding	getma.org/?cm=var&var=hg19,8,25323824,C,A&fts=all		hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603		S/Y		A	low	998/3731		getma.org/?cm=msa&ty=f&p=CDCA2_HUMAN&rb=1&re=385&var=S174Y	tolerated(1)				YES	CDCA2,missense_variant,p.Ser174Tyr,ENST00000330560,NM_152562.2;CDCA2,missense_variant,p.Ser159Tyr,ENST00000380665,;CDCA2,upstream_gene_variant,,ENST00000523454,;CDCA2,downstream_gene_variant,,ENST00000518225,;							MODERATE	521/3072	S174Y	CDCA2_HUMAN			Transcript		benign(0.108)	.	ENSP00000328228		CCDS6049.1			1	
OPN5	0	LGGM	GRCh37	6	47763209	47763209	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	52	18	.	.	ENST00000371211.2:c.666C>A	p.Ile222=	p.I222=	ENST00000371211	NM_181744.3	222	atC/atA	0	1	1	UPI0000223E5B	0		ENST00000371211		ENSG00000124818	19992		70			HGNC	p.I222I		OPN5		SNV							ENST00000371211	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24240:SF0,hmmpanther:PTHR24240,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		I		A		694/1801							YES	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,;							LOW	666/1065		OPN5_HUMAN			Transcript			.	ENSP00000360255		CCDS4923.1			1	
C16orf78	0	LGGM	GRCh37	16	49412458	49412458	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	17	18	.	.	ENST00000299191.3:c.348C>T	p.Leu116=	p.L116=	ENST00000299191	NM_144602.2	116	ctC/ctT	0	1	1	UPI0000071013	0		ENST00000299191		ENSG00000166152	28479		35			HGNC	p.L116L		C16orf78		SNV							ENST00000299191	protein_coding			Pfam_domain:PF15472		L		T		465/1068							YES	C16orf78,synonymous_variant,p.=,ENST00000299191,NM_144602.2;							LOW	348/798		CP078_HUMAN			Transcript			.	ENSP00000299191		CCDS10738.1			1	
KRT72	0	LGGM	GRCh37	12	52992889	52992889	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	30	19	.	.	ENST00000293745.2:c.434T>C	p.Phe145Ser	p.F145S	ENST00000293745	NM_080747.2	145	tTc/tCc	0	1	1	UPI0000055AC8	0	getma.org/pdb.php?prot=K2C72_HUMAN&from=124&to=437&var=F145S	ENST00000293745		ENSG00000170486	28932		49	3.055		HGNC	p.F145S		KRT72		SNV							ENST00000293745	protein_coding	getma.org/?cm=var&var=hg19,12,52992889,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593		F/S		G	medium	520/2015		getma.org/?cm=msa&ty=f&p=K2C72_HUMAN&rb=124&re=437&var=F145S	deleterious(0)	B4DXK4_HUMAN			YES	KRT72,missense_variant,p.Phe145Ser,ENST00000293745,NM_080747.2;KRT72,missense_variant,p.Phe145Ser,ENST00000537672,NM_001146225.1;KRT72,missense_variant,p.Phe145Ser,ENST00000354310,NM_001146226.1;KRT72,missense_variant,p.Phe142Ser,ENST00000549979,;KRT72,5_prime_UTR_variant,,ENST00000398066,;RP11-641A6.2,upstream_gene_variant,,ENST00000551089,;KRT72,3_prime_UTR_variant,,ENST00000550829,;							MODERATE	434/1536	F145S	K2C72_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000293745		CCDS8833.1			1	
MGAT4C	0	LGGM	GRCh37	12	86383278	86383278	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	24	20	.	.	ENST00000604798.1:c.47A>T	p.Lys16Ile	p.K16I	ENST00000604798		16	aAa/aTa	0	1		UPI00001B002C	0	NA	ENST00000548651		ENSG00000182050	30871		44	0.975		HGNC	p.K16I		MGAT4C		SNV							ENST00000547225	protein_coding	getma.org/?cm=var&var=hg19,12,86383278,T,A&fts=all		hmmpanther:PTHR12062:SF8,hmmpanther:PTHR12062		K/I		A	low	103/1523		getma.org/?cm=msa&ty=f&p=MGT4C_HUMAN&rb=1&re=43&var=K16I	tolerated_low_confidence(0.1)	F8VWY2_HUMAN				MGAT4C,missense_variant,p.Lys16Ile,ENST00000604798,;MGAT4C,missense_variant,p.Lys16Ile,ENST00000332156,;MGAT4C,missense_variant,p.Lys16Ile,ENST00000549405,;MGAT4C,missense_variant,p.Lys45Ile,ENST00000393205,;MGAT4C,missense_variant,p.Lys16Ile,ENST00000552808,;MGAT4C,missense_variant,p.Lys16Ile,ENST00000548651,NM_013244.3;MGAT4C,missense_variant,p.Lys16Ile,ENST00000547225,;MGAT4C,missense_variant,p.Lys16Ile,ENST00000552435,;							MODERATE	47/1437	K16I	MGT4C_HUMAN			Transcript		benign(0.249)	.	ENSP00000447253		CCDS9030.1			1	
CHKA	0	LGGM	GRCh37	11	67832026	67832026	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	31	20	.	.	ENST00000265689.4:c.1198A>T	p.Ile400Phe	p.I400F	ENST00000265689	NM_001277.2	400	Att/Ttt	0	1	1	UPI000013D662	0	getma.org/pdb.php?prot=CHKA_HUMAN&from=375&to=457&var=I400F	ENST00000265689		ENSG00000110721	1937		51	0.205		HGNC	p.I382F		CHKA		SNV							ENST00000356135	protein_coding	getma.org/?cm=var&var=hg19,11,67832026,T,A&fts=all		hmmpanther:PTHR22603,hmmpanther:PTHR22603:SF21,Gene3D:3.90.1200.10,Superfamily_domains:SSF56112		I/F		A	neutral	1225/2530		getma.org/?cm=msa&ty=f&p=CHKA_HUMAN&rb=375&re=457&var=I400F	tolerated(0.11)	E9PM06_HUMAN			YES	CHKA,missense_variant,p.Ile400Phe,ENST00000265689,NM_001277.2;CHKA,missense_variant,p.Ile382Phe,ENST00000356135,NM_212469.1;CHKA,upstream_gene_variant,,ENST00000533728,;CHKA,downstream_gene_variant,,ENST00000528235,;CHKA,missense_variant,p.Ile72Phe,ENST00000525155,;CHKA,downstream_gene_variant,,ENST00000533910,;							MODERATE	1198/1374	I400F	CHKA_HUMAN			Transcript		benign(0.042)	.	ENSP00000265689		CCDS8178.1			1	
MYO16	0	LGGM	GRCh37	13	109540772	109540772	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	83	20	.	.	ENST00000356711.2:c.1540C>G	p.Leu514Val	p.L514V	ENST00000356711	NM_015011.1	514	Ctc/Gtc	0	1	1	UPI0000160FF2	0	getma.org/pdb.php?prot=MYO16_HUMAN&from=403&to=1133&var=L514V	ENST00000356711		ENSG00000041515	29822		103	2.57		HGNC	p.L514V		MYO16		SNV							ENST00000251041	protein_coding	getma.org/?cm=var&var=hg19,13,109540772,C,G&fts=all		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,SMART_domains:SM00242,Superfamily_domains:SSF52540		L/V		G	medium	1666/6874		getma.org/?cm=msa&ty=f&p=MYO16_HUMAN&rb=403&re=1133&var=L514V	deleterious(0.01)				YES	MYO16,missense_variant,p.Leu514Val,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Leu514Val,ENST00000357550,NM_001198950.1;MYO16,missense_variant,p.Leu514Val,ENST00000251041,;MYO16,missense_variant,p.Leu26Val,ENST00000457511,;MYO16,non_coding_transcript_exon_variant,,ENST00000482793,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;							MODERATE	1540/5577	L514V	MYO16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349145		CCDS32008.1			1	
PBRM1	0	LGGM	GRCh37	3	52592369	52592369	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	30	20	.	.	ENST00000394830.3:c.4132+3414C>T		*1378*	ENST00000394830	NM_018313.4			0	1		UPI000019A59F	0		ENST00000296302		ENSG00000163939	30064		50			HGNC	p.P1450L		PBRM1		SNV			1				ENST00000296302	protein_coding			Gene3D:1.10.30.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16062		P/L		A		4351/5145			deleterious(0.02)	C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN				PBRM1,missense_variant,p.Pro1450Leu,ENST00000296302,;PBRM1,missense_variant,p.Pro1465Leu,ENST00000409114,;PBRM1,intron_variant,,ENST00000356770,;PBRM1,intron_variant,,ENST00000394830,NM_018313.4;PBRM1,intron_variant,,ENST00000409057,;PBRM1,intron_variant,,ENST00000410007,;PBRM1,intron_variant,,ENST00000409767,;PBRM1,intron_variant,,ENST00000337303,;PBRM1,intron_variant,,ENST00000423351,;SMIM4,intron_variant,,ENST00000476842,;RNU6ATAC16P,upstream_gene_variant,,ENST00000408591,;PBRM1,intron_variant,,ENST00000412587,;							MODERATE	4349/5070		PB1_HUMAN			Transcript		benign(0.004)	.	ENSP00000296302					1	
MLTK	0	LGGM	GRCh37	2	174047587	174047587	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	18	21	.	.	ENST00000375213.3:c.253G>A	p.Ala85Thr	p.A85T	ENST00000375213	NM_016653.2	85	Gct/Act	0	1	1	UPI0000073F69	0	getma.org/pdb.php?prot=MLTK_HUMAN&from=16&to=260&var=A85T	ENST00000375213		ENSG00000091436			39	2.285		Uniprot_gn	p.A85T		MLTK		SNV							ENST00000409176	protein_coding	getma.org/?cm=var&var=hg19,2,174047587,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR00109		A/T		A	medium	331/3741		getma.org/?cm=msa&ty=f&p=MLTK_HUMAN&rb=16&re=260&var=A85T	deleterious(0)	C9J3F7_HUMAN			YES	MLTK,missense_variant,p.Ala85Thr,ENST00000338983,NM_133646.2;MLTK,missense_variant,p.Ala85Thr,ENST00000375213,NM_016653.2;MLTK,missense_variant,p.Ala85Thr,ENST00000409176,;MLTK,missense_variant,p.Ala85Thr,ENST00000539448,;MLTK,missense_variant,p.Ala85Thr,ENST00000422149,;MLTK,5_prime_UTR_variant,,ENST00000431503,;MLK7-AS1,intron_variant,,ENST00000419609,;MLK7-AS1,intron_variant,,ENST00000422703,;MLTK,non_coding_transcript_exon_variant,,ENST00000480606,;MLTK,non_coding_transcript_exon_variant,,ENST00000468408,;MLTK,non_coding_transcript_exon_variant,,ENST00000476618,;							MODERATE	253/2403	A85T	MLTK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364361		CCDS42777.1			1	
SMYD3	0	LGGM	GRCh37	1	246021927	246021927	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	60	21	.	.	ENST00000388985.4:c.947A>T	p.Asn316Ile	p.N316I	ENST00000388985		316	aAt/aTt	0	1		UPI000007078E	0	getma.org/pdb.php?prot=SMYD3_HUMAN&from=241&to=428&var=N316I	ENST00000490107		ENSG00000185420	15513		81	0		HGNC	p.N127I		SMYD3		SNV							ENST00000391836	protein_coding	getma.org/?cm=var&var=hg19,1,246021927,T,A&fts=all		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF146		N/I		A	neutral	987/1548		getma.org/?cm=msa&ty=f&p=SMYD3_HUMAN&rb=241&re=428&var=N316I	tolerated(0.1)	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN				SMYD3,missense_variant,p.Asn257Ile,ENST00000490107,NM_001167740.1;SMYD3,missense_variant,p.Asn257Ile,ENST00000541742,NM_022743.2;SMYD3,missense_variant,p.Asn316Ile,ENST00000388985,;SMYD3,missense_variant,p.Asn127Ile,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,,ENST00000483072,;SMYD3,non_coding_transcript_exon_variant,,ENST00000366516,;							MODERATE	770/1110	N316I	SMYD3_HUMAN			Transcript		benign(0.077)	.	ENSP00000419184		CCDS31083.1			1	
TSHZ2	0	LGGM	GRCh37	20	51870609	51870609	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	19	22	.	.	ENST00000371497.5:c.612G>A	p.Met204Ile	p.M204I	ENST00000371497	NM_173485.5	204	atG/atA	0	1	1	UPI0000206747	0	getma.org/pdb.php?prot=TSH2_HUMAN&from=192&to=261&var=M204I	ENST00000371497		ENSG00000182463	13010		41	0.345		HGNC	p.M201I		TSHZ2		SNV							ENST00000329613	protein_coding	getma.org/?cm=var&var=hg19,20,51870609,G,A&fts=all		hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487		M/I		A	neutral	1499/12187		getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=192&re=261&var=M204I	deleterious(0.02)	S4R3C8_HUMAN			YES	TSHZ2,missense_variant,p.Met204Ile,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Met201Ile,ENST00000603338,;TSHZ2,missense_variant,p.Met201Ile,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;							MODERATE	612/3105	M204I	TSH2_HUMAN			Transcript		benign(0.003)	.	ENSP00000360552		CCDS33490.1			1	
NRCAM	0	LGGM	GRCh37	7	107838523	107838523	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	22	22	.	.	ENST00000379028.3:c.1228A>T	p.Arg410Ter	p.R410*	ENST00000379028		410	Aga/Tga	0	1	1	UPI00005E2661	0	NA	ENST00000379028		ENSG00000091129	7994		44	0		HGNC	p.R410X		NRCAM		SNV							ENST00000425651	protein_coding	getma.org/?cm=var&var=hg19,7,107838523,T,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		R/*		A	NA	1699/6659		NA		C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN			YES	NRCAM,stop_gained,p.Arg410Ter,ENST00000379028,;NRCAM,stop_gained,p.Arg391Ter,ENST00000413765,;NRCAM,stop_gained,p.Arg404Ter,ENST00000351718,NM_005010.4;NRCAM,stop_gained,p.Arg391Ter,ENST00000379024,NM_001193582.1,NM_001193584.1,NM_001193583.1;NRCAM,stop_gained,p.Arg410Ter,ENST00000379022,;NRCAM,stop_gained,p.Arg410Ter,ENST00000425651,NM_001037132.2;NRCAM,stop_gained,p.Arg404Ter,ENST00000417701,;							HIGH	1228/3915	R410*	NRCAM_HUMAN			Transcript			.	ENSP00000368314		CCDS47686.1			1	
ROBO2	0	LGGM	GRCh37	3	77607093	77607093	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	29	23	.	.	ENST00000487694.3:c.1280-2A>T		p.X427_splice	ENST00000487694	NM_001128929.2			0	1		UPI00003A9322	0		ENST00000461745		ENSG00000185008	10250		52			HGNC	-		ROBO2		SNV			1				ENST00000487694	protein_coding							T		-/8946								ROBO2,splice_acceptor_variant,,ENST00000461745,NM_002942.4;ROBO2,splice_acceptor_variant,,ENST00000487694,NM_001128929.2;ROBO2,splice_acceptor_variant,,ENST00000332191,;ROBO2,splice_acceptor_variant,,ENST00000602589,;ROBO2,splice_acceptor_variant,,ENST00000473767,;							HIGH	1232/4137		ROBO2_HUMAN			Transcript			.	ENSP00000417164		CCDS43109.1			1	
MIA3	0	LGGM	GRCh37	1	222803013	222803013	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	60	23	.	.	ENST00000344922.5:c.2451A>C	p.Ala817=	p.A817=	ENST00000344922	NM_198551.2	817	gcA/gcC	0	1	1	UPI00001D75B3	0		ENST00000344922		ENSG00000154305	24008		83			HGNC	p.A817A		MIA3		SNV							ENST00000344922	protein_coding			hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37		A		C		2476/8142							YES	MIA3,synonymous_variant,p.=,ENST00000344922,NM_198551.2;MIA3,synonymous_variant,p.=,ENST00000344441,;MIA3,synonymous_variant,p.=,ENST00000354906,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;							LOW	2451/5724		MIA3_HUMAN			Transcript			.	ENSP00000340900		CCDS41470.1			1	
GDF9	0	LGGM	GRCh37	5	132199857	132199857	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	29	24	.	.	ENST00000378673.2:c.369C>A	p.His123Gln	p.H123Q	ENST00000378673	NM_001288828.1	123	caC/caA	0	1	1	UPI000012B396	0	NA	ENST00000378673		ENSG00000164404	4224		53	1.2		HGNC	p.H123Q		GDF9		SNV							ENST00000378673	protein_coding	getma.org/?cm=var&var=hg19,5,132199857,G,T&fts=all		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF19		H/Q		T	low	1236/2640		getma.org/?cm=msa&ty=f&p=GDF9_HUMAN&rb=1&re=200&var=H123Q	tolerated(0.35)	B4DXG3_HUMAN			YES	GDF9,missense_variant,p.His123Gln,ENST00000378673,NM_001288828.1,NM_001288825.1;GDF9,missense_variant,p.His123Gln,ENST00000296875,NM_005260.3;UQCRQ,upstream_gene_variant,,ENST00000378670,NM_014402.4;UQCRQ,upstream_gene_variant,,ENST00000378665,;UQCRQ,upstream_gene_variant,,ENST00000378667,;GDF9,non_coding_transcript_exon_variant,,ENST00000464378,;GDF9,non_coding_transcript_exon_variant,,ENST00000472320,;UQCRQ,upstream_gene_variant,,ENST00000496429,;UQCRQ,upstream_gene_variant,,ENST00000498309,;UQCRQ,upstream_gene_variant,,ENST00000480372,;							MODERATE	369/1365	H123Q	GDF9_HUMAN			Transcript		benign(0.002)	.	ENSP00000367942		CCDS4162.1			1	
TRPA1	0	LGGM	GRCh37	8	72959403	72959403	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	36	24	.	.	ENST00000262209.4:c.1945A>G	p.Lys649Glu	p.K649E	ENST00000262209	NM_007332.2	649	Aag/Gag	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		60	2.135		HGNC	p.K649E		TRPA1		SNV			1				ENST00000262209	protein_coding	getma.org/?cm=var&var=hg19,8,72959403,T,C&fts=all		hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5		K/E		C	medium	2153/5223		getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=576&re=677&var=K649E	tolerated(0.07)				YES	TRPA1,missense_variant,p.Lys649Glu,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Lys501Glu,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,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000519751,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,upstream_gene_variant,,ENST00000522271,;							MODERATE	1945/3360	K649E	TRPA1_HUMAN			Transcript		benign(0.118)	.	ENSP00000262209		CCDS34908.1			1	
HYDIN	0	LGGM	GRCh37	16	70841894	70841894	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	5	24	.	.	ENST00000393567.2:c.14955C>A	p.Ala4985=	p.A4985=	ENST00000393567	NM_001270974.1	4985	gcC/gcA	0	1	1	UPI0001FEF4F9	0		ENST00000393567		ENSG00000157423	19368		29			HGNC	p.A4984A		HYDIN		SNV			1				ENST00000316490	protein_coding			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		A		T		15106/15719				K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,synonymous_variant,p.=,ENST00000393567,NM_001270974.1;HYDIN,3_prime_UTR_variant,,ENST00000378856,;							LOW	14955/15366		HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
MSLN	0	LGGM	GRCh37	16	812694	812694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	35	25	.	.	ENST00000382862.3:c.14C>T	p.Thr5Met	p.T5M	ENST00000382862	NM_013404.4	5	aCg/aTg	0	1	1	UPI000004EC9C	0	NA	ENST00000382862		ENSG00000102854	7371		60	0.69		HGNC	p.T5M	rs758124837	MSLN		SNV							ENST00000445361	protein_coding	getma.org/?cm=var&var=hg19,16,812694,C,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,Pfam_domain:PF06060		T/M		T	neutral	109/2116	7.68E-05	getma.org/?cm=msa&ty=f&p=MSLN_HUMAN&rb=1&re=630&var=T5M	tolerated(0.07)	H3BV92_HUMAN			YES	MSLN,missense_variant,p.Thr5Met,ENST00000566549,;MSLN,missense_variant,p.Thr5Met,ENST00000545450,NM_005823.5;MSLN,missense_variant,p.Thr5Met,ENST00000382862,NM_013404.4;MSLN,missense_variant,p.Thr5Met,ENST00000563941,NM_001177355.1;MSLN,missense_variant,p.Thr5Met,ENST00000563651,;MSLN,missense_variant,p.Thr5Met,ENST00000569566,;MSLN,upstream_gene_variant,,ENST00000561896,;MSLN,upstream_gene_variant,,ENST00000566269,;							MODERATE	14/1893	T5M	MSLN_HUMAN			Transcript		benign(0.176)	.	ENSP00000372313	4.12E-05	CCDS32356.1			1	
PREX2	0	LGGM	GRCh37	8	68984768	68984768	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	44	25	.	.	ENST00000288368.4:c.1532T>C	p.Val511Ala	p.V511A	ENST00000288368	NM_024870.2	511	gTc/gCc	0	1	1	UPI0000375435	0	getma.org/pdb.php?prot=PREX2_HUMAN&from=495&to=563&var=V511A	ENST00000288368		ENSG00000046889	22950		69	1.15		HGNC	p.V511A		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,68984768,T,C&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00610,PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00049,Superfamily_domains:SSF46785		V/A		C	low	1809/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=495&re=563&var=V511A	deleterious(0)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Val511Ala,ENST00000288368,NM_024870.2,NM_025170.4;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;							MODERATE	1532/4821	V511A	PREX2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000288368		CCDS6201.1			1	
UNC13A	0	LGGM	GRCh37	19	17728602	17728602	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	19	25	.	.	ENST00000519716.2:c.4467G>A	p.Pro1489=	p.P1489=	ENST00000519716	NM_001080421.2	1489	ccG/ccA	0	1	1	UPI00006C19A7	0		ENST00000519716		ENSG00000130477	23150		44			HGNC	p.P1464P	rs754427518,COSM711225,COSM711226	UNC13A	6.06E-05	SNV			1			0,1,1	ENST00000552293	protein_coding			Pfam_domain:PF10540,PROSITE_profiles:PS51259,hmmpanther:PTHR10480		P		T		4467/9838	0.00018						YES	UNC13A,synonymous_variant,p.=,ENST00000428389,;UNC13A,synonymous_variant,p.=,ENST00000519716,NM_001080421.2;UNC13A,synonymous_variant,p.=,ENST00000252773,;UNC13A,synonymous_variant,p.=,ENST00000551649,;UNC13A,synonymous_variant,p.=,ENST00000552293,;UNC13A,synonymous_variant,p.=,ENST00000550896,;CTD-3149D2.3,downstream_gene_variant,,ENST00000600512,;UNC13A,non_coding_transcript_exon_variant,,ENST00000517497,;	0.000232				0,1,1		LOW	4467/5112		UN13A_HUMAN	0.000151		Transcript			.	ENSP00000429562	0.000132	CCDS46013.2			1	
AGO3	0	LGGM	GRCh37	1	36505425	36505425	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	2	26	.	.	ENST00000373191.4:c.1877A>T	p.Tyr626Phe	p.Y626F	ENST00000373191	NM_024852.3	626	tAc/tTc	0	1	1	UPI0000141361	0	getma.org/pdb.php?prot=AGO3_HUMAN&from=518&to=819&var=Y626F	ENST00000373191		ENSG00000126070	18421		28	1.895		HGNC	p.Y626F		AGO3		SNV							ENST00000373191	protein_coding	getma.org/?cm=var&var=hg19,1,36505425,A,T&fts=all		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		Y/F		T	low	2226/19687		getma.org/?cm=msa&ty=f&p=AGO3_HUMAN&rb=518&re=819&var=Y626F	deleterious(0.01)	B4DY67_HUMAN			YES	AGO3,missense_variant,p.Tyr626Phe,ENST00000373191,NM_024852.3;AGO3,missense_variant,p.Tyr392Phe,ENST00000246314,NM_177422.2;AGO3,upstream_gene_variant,,ENST00000471099,;							MODERATE	1877/2583	Y626F	AGO3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000362287		CCDS399.1			1	
RBM44	0	LGGM	GRCh37	2	238727159	238727159	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	46	26	.	.	ENST00000316997.4:c.1600A>G	p.Thr534Ala	p.T534A	ENST00000316997	NM_001080504.2	534	Aca/Gca	0	1	1	UPI000179A941	0	NA	ENST00000316997		ENSG00000177483	24756		72	-0.255		HGNC	p.T534A	COSM4092712,COSM4092713	RBM44		SNV						1,1	ENST00000409864	protein_coding	getma.org/?cm=var&var=hg19,2,238727159,A,G&fts=all				T/A		G	neutral	1732/4282		getma.org/?cm=msa&ty=f&p=RBM44_HUMAN&rb=401&re=600&var=T533A	tolerated(0.72)				YES	RBM44,missense_variant,p.Thr534Ala,ENST00000316997,NM_001080504.2;RBM44,missense_variant,p.Thr534Ala,ENST00000409864,;RBM44,intron_variant,,ENST00000444524,;LRRFIP1,downstream_gene_variant,,ENST00000489603,;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,;					1,1		MODERATE	1600/3159	T533A	RBM44_HUMAN			Transcript		benign(0.013)	.	ENSP00000321179		CCDS46554.1			1	
ZNF804B	0	LGGM	GRCh37	7	88966300	88966300	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	52	27	.	.	ENST00000333190.4:c.4004T>A	p.Leu1335Gln	p.L1335Q	ENST00000333190	NM_181646.2	1335	cTa/cAa	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		79	1.61		HGNC	p.L1335Q		ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88966300,T,A&fts=all				L/Q		A	low	4613/4659		getma.org/?cm=msa&ty=f&p=Z804B_HUMAN&rb=1130&re=1347&var=L1335Q	deleterious(0)				YES	ZNF804B,missense_variant,p.Leu1335Gln,ENST00000333190,NM_181646.2;							MODERATE	4004/4050	L1335Q	Z804B_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000329638		CCDS5613.1			1	
TCF4	0	LGGM	GRCh37	18	52895524	52895524	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	29	27	.	.	ENST00000398339.1:c.2254C>A	p.Pro752Thr	p.P752T	ENST00000398339	NM_001243226.1	752	Ccc/Acc	0	1		UPI000012DA19	0	NA	ENST00000356073		ENSG00000196628	11634		56	1.59		HGNC	p.P516T		TCF4		SNV			1				ENST00000561992	protein_coding	getma.org/?cm=var&var=hg19,18,52895524,G,T&fts=all		hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10		P/T		T	low	2548/8317		getma.org/?cm=msa&ty=f&p=ITF2_HUMAN&rb=619&re=667&var=P646T	tolerated(0.07)	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				TCF4,missense_variant,p.Pro650Thr,ENST00000354452,NM_001083962.1;TCF4,missense_variant,p.Pro646Thr,ENST00000356073,NM_003199.2;TCF4,missense_variant,p.Pro626Thr,ENST00000537578,NM_001243227.1;TCF4,missense_variant,p.Pro656Thr,ENST00000564403,NM_001243228.1;TCF4,missense_variant,p.Pro621Thr,ENST00000568740,;TCF4,missense_variant,p.Pro622Thr,ENST00000540999,;TCF4,missense_variant,p.Pro752Thr,ENST00000398339,NM_001243226.1;TCF4,missense_variant,p.Pro490Thr,ENST00000457482,;TCF4,missense_variant,p.Pro650Thr,ENST00000565018,;TCF4,missense_variant,p.Pro626Thr,ENST00000568673,;TCF4,missense_variant,p.Pro646Thr,ENST00000564999,;TCF4,missense_variant,p.Pro604Thr,ENST00000543082,NM_001243231.1;TCF4,missense_variant,p.Pro579Thr,ENST00000544241,NM_001243232.1;TCF4,missense_variant,p.Pro516Thr,ENST00000561992,NM_001243233.1;TCF4,missense_variant,p.Pro590Thr,ENST00000566279,;TCF4,missense_variant,p.Pro643Thr,ENST00000566286,NM_001243230.1;TCF4,missense_variant,p.Pro586Thr,ENST00000567880,;TCF4,missense_variant,p.Pro516Thr,ENST00000537856,;TCF4,missense_variant,p.Pro575Thr,ENST00000564228,;TCF4,missense_variant,p.Pro486Thr,ENST00000570287,NM_001243235.1,NM_001243234.1;TCF4,missense_variant,p.Pro516Thr,ENST00000570177,;TCF4,missense_variant,p.Pro486Thr,ENST00000561831,NM_001243236.1;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;							MODERATE	1936/2004	P646T	ITF2_HUMAN			Transcript		benign(0)	.	ENSP00000348374		CCDS11960.1			1	
KALRN	0	LGGM	GRCh37	3	124385903	124385903	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	28	27	.	.	ENST00000291478.5:c.1482C>T	p.Cys494=	p.C494=	ENST00000291478	NM_007064.3	494	tgC/tgT	0	1	1	UPI00001AEB7E	0		ENST00000291478		ENSG00000160145	4814		55			HGNC	p.C462C		KALRN		SNV			1				ENST00000428018	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		C		T		1645/10888								KALRN,synonymous_variant,p.=,ENST00000291478,NM_007064.3;KALRN,synonymous_variant,p.=,ENST00000360013,NM_001024660.3;KALRN,synonymous_variant,p.=,ENST00000354186,;KALRN,synonymous_variant,p.=,ENST00000428018,;KALRN,synonymous_variant,p.=,ENST00000393496,;KALRN,synonymous_variant,p.=,ENST00000459915,;							LOW	1482/3870		KALRN_HUMAN			Transcript			.	ENSP00000291478		CCDS3028.1			1	
ABLIM3	0	LGGM	GRCh37	5	148624577	148624577	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	26	28	.	.	ENST00000506113.1:c.1485A>G	p.Lys495=	p.K495=	ENST00000506113		495	aaA/aaG	0	1		UPI0000071FF7	0		ENST00000309868		ENSG00000173210	29132		54			HGNC	p.K384K		ABLIM3		SNV							ENST00000356541	protein_coding			hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF0		K		G		1724/4326								ABLIM3,splice_region_variant,p.=,ENST00000506113,;ABLIM3,splice_region_variant,p.=,ENST00000309868,NM_014945.2;ABLIM3,splice_region_variant,p.=,ENST00000326685,;ABLIM3,splice_region_variant,p.=,ENST00000504238,;ABLIM3,splice_region_variant,,ENST00000517451,;ABLIM3,splice_region_variant,p.=,ENST00000508983,;ABLIM3,splice_region_variant,p.=,ENST00000356541,;AC012613.2,intron_variant,,ENST00000523176,;RP11-331K21.1,intron_variant,,ENST00000512647,;RP11-331K21.1,intron_variant,,ENST00000522685,;ABLIM3,downstream_gene_variant,,ENST00000519549,;ABLIM3,splice_region_variant,,ENST00000515171,;ABLIM3,downstream_gene_variant,,ENST00000514212,;							LOW	1485/2052		ABLM3_HUMAN			Transcript			.	ENSP00000310309		CCDS4294.1			1	
KANK4	0	LGGM	GRCh37	1	62740736	62740736	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	70	30	.	.	ENST00000371153.4:c.40G>A	p.Asp14Asn	p.D14N	ENST00000371153	NM_181712.4	14	Gat/Aat	0	1	1	UPI000022AE73	0	NA	ENST00000371153		ENSG00000132854	27263		100	0.205		HGNC	p.D14N	rs753716013	KANK4		SNV							ENST00000371153	protein_coding	getma.org/?cm=var&var=hg19,1,62740736,C,T&fts=all		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20		D/N		T	neutral	419/4665	1.51E-05	getma.org/?cm=msa&ty=f&p=KANK4_HUMAN&rb=1&re=53&var=D14N	tolerated(0.17)	B1ALP6_HUMAN,B1ALP5_HUMAN			YES	KANK4,missense_variant,p.Asp14Asn,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;							MODERATE	40/2988	D14N	KANK4_HUMAN			Transcript		benign(0.002)	.	ENSP00000360195	8.24E-06	CCDS620.1			1	
NUP214	0	LGGM	GRCh37	9	134077078	134077078	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	47	31	.	.	ENST00000359428.5:c.5566A>G	p.Ser1856Gly	p.S1856G	ENST00000359428	NM_005085.3	1856	Agt/Ggt	0	1	1	UPI00001BBB2F	0	NA	ENST00000359428		ENSG00000126883	8064		78	0		HGNC	p.S1856G		NUP214		SNV			1				ENST00000359428	protein_coding	getma.org/?cm=var&var=hg19,9,134077078,A,G&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21		S/G		G	neutral	5710/7600		getma.org/?cm=msa&ty=f&p=NU214_HUMAN&rb=421&re=2088&var=S1856G		H0YDI2_HUMAN,E9PS86_HUMAN			YES	NUP214,missense_variant,p.Ser1856Gly,ENST00000359428,NM_005085.3;NUP214,missense_variant,p.Ser1846Gly,ENST00000411637,;NUP214,missense_variant,p.Ser1857Gly,ENST00000451030,;NUP214,missense_variant,p.Ser682Gly,ENST00000483497,;NUP214,downstream_gene_variant,,ENST00000531600,;NUP214,downstream_gene_variant,,ENST00000465486,;NUP214,downstream_gene_variant,,ENST00000470765,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,downstream_gene_variant,,ENST00000528114,;NUP214,downstream_gene_variant,,ENST00000529286,;NUP214,missense_variant,p.Ser709Gly,ENST00000453861,;NUP214,downstream_gene_variant,,ENST00000525384,;							MODERATE	5566/6273	S1856G	NU214_HUMAN			Transcript		benign(0.053)	.	ENSP00000352400		CCDS6940.1			1	
VPS13D	0	LGGM	GRCh37	1	12414198	12414198	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	13	31	.	.	ENST00000358136.3:c.9599G>C	p.Gly3200Ala	p.G3200A	ENST00000358136	NM_015378.2	3200	gGa/gCa	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		44	1.3		HGNC	p.G3175A		VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12414198,G,C&fts=all		hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166		G/A		C	low	9729/16318		getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=3074&re=3273&var=G3199A		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Gly3200Ala,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Gly3175Ala,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Gly2022Ala,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,downstream_gene_variant,,ENST00000469054,;							MODERATE	9599/13167	G3199A				Transcript		possibly_damaging(0.713)	.	ENSP00000350854		CCDS30588.1			1	
SPEF2	0	LGGM	GRCh37	5	35740109	35740109	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	56	32	.	.	ENST00000356031.3:c.3152A>T	p.Glu1051Val	p.E1051V	ENST00000356031	NM_024867.3	1051	gAa/gTa	0	1	1	UPI0001505B9F	0	NA	ENST00000356031		ENSG00000152582	26293		88	2.175		HGNC	p.E1051V		SPEF2		SNV							ENST00000356031	protein_coding	getma.org/?cm=var&var=hg19,5,35740109,A,T&fts=all		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0		E/V		T	medium	3306/5681		getma.org/?cm=msa&ty=f&p=SPEF2_HUMAN&rb=964&re=1163&var=E1051V	deleterious(0.02)				YES	SPEF2,missense_variant,p.Glu1046Val,ENST00000440995,;SPEF2,missense_variant,p.Glu1051Val,ENST00000356031,NM_024867.3;CTD-2113L7.1,intron_variant,,ENST00000510433,;							MODERATE	3152/5469	E1051V	SPEF2_HUMAN			Transcript		benign(0.444)	.	ENSP00000348314		CCDS43309.1			1	
STRIP2	0	LGGM	GRCh37	7	129122733	129122733	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	53	33	.	.	ENST00000249344.2:c.2100C>G	p.Val700=	p.V700=	ENST00000249344	NM_020704.2	700	gtC/gtG	0	1	1	UPI00001C1E68	0		ENST00000249344		ENSG00000128578	22209		86			HGNC	p.V700V		STRIP2		SNV							ENST00000435494	protein_coding			Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		V		G		2140/5115				A4D1K4_HUMAN			YES	STRIP2,synonymous_variant,p.=,ENST00000249344,NM_020704.2;STRIP2,synonymous_variant,p.=,ENST00000435494,NM_001134336.1;RNU1-72P,upstream_gene_variant,,ENST00000362976,;SNRPGP3,downstream_gene_variant,,ENST00000469405,;							LOW	2100/2505		STRP2_HUMAN			Transcript			.	ENSP00000249344		CCDS34752.1			1	
ZNF354A	0	LGGM	GRCh37	5	178139137	178139137	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	35	33	.	.	ENST00000335815.2:c.1742A>C	p.Asn581Thr	p.N581T	ENST00000335815	NM_005649.2	581	aAt/aCt	0	1	1	UPI000013EB5E	0	getma.org/pdb.php?prot=Z354A_HUMAN&from=566&to=589&var=N581T	ENST00000335815		ENSG00000169131	11628		68	0.315		HGNC	p.N581T		ZNF354A		SNV							ENST00000335815	protein_coding	getma.org/?cm=var&var=hg19,5,178139137,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF146,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/T		G	neutral	1940/2484		getma.org/?cm=msa&ty=f&p=Z354A_HUMAN&rb=546&re=605&var=N581T	tolerated(0.21)	E5RHT5_HUMAN			YES	ZNF354A,missense_variant,p.Asn581Thr,ENST00000335815,NM_005649.2;ZNF354A,downstream_gene_variant,,ENST00000520331,;							MODERATE	1742/1818	N581T	Z354A_HUMAN			Transcript		benign(0.012)	.	ENSP00000337122		CCDS4438.1			1	
PRPS2	0	LGGM	GRCh37	X	12827396	12827396	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	55	33	.	.	ENST00000398491.2:c.359C>T	p.Ser120Leu	p.S120L	ENST00000398491		120	tCg/tTg	0	1		UPI000000D98E	0	getma.org/pdb.php?prot=PRPS2_HUMAN&from=4&to=120&var=S117L	ENST00000380668		ENSG00000101911	9465		88	2.64		HGNC	p.S120L		PRPS2		SNV							ENST00000398491	protein_coding	getma.org/?cm=var&var=hg19,X,12827396,C,T&fts=all		Gene3D:3.40.50.2020,HAMAP:MF_00583_B,Pfam_domain:PF13793,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF30,Superfamily_domains:SSF53271,TIGRFAM_domain:TIGR01251		S/L		T	medium	478/2511		getma.org/?cm=msa&ty=f&p=PRPS2_HUMAN&rb=4&re=120&var=S117L	tolerated(0.11)					PRPS2,missense_variant,p.Ser117Leu,ENST00000380668,NM_001039091.2,NM_002765.4;PRPS2,missense_variant,p.Ser120Leu,ENST00000398491,;PRPS2,missense_variant,p.Ser30Leu,ENST00000461630,;PRPS2,missense_variant,p.Ser117Leu,ENST00000489404,;PRPS2,missense_variant,p.Ser117Leu,ENST00000380663,;							MODERATE	350/957	S117L	PRPS2_HUMAN			Transcript		benign(0.099)	.	ENSP00000370043		CCDS14150.1			1	
ZNF589	0	LGGM	GRCh37	3	48310007	48310007	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	54	33	.	.	ENST00000354698.3:c.826T>C	p.Tyr276His	p.Y276H	ENST00000354698	NM_016089.2	276	Tat/Cat	0	1	1	UPI0000190E9A	0	getma.org/pdb.php?prot=ZN589_HUMAN&from=262&to=286&var=Y276H	ENST00000354698		ENSG00000164048	16747		87	1.075		HGNC	p.Y276H	rs763775270	ZNF589	6.06E-05	SNV							ENST00000354698	protein_coding	getma.org/?cm=var&var=hg19,3,48310007,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF26,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/H		C	low	898/3368		getma.org/?cm=msa&ty=f&p=ZN589_HUMAN&rb=242&re=306&var=Y276H	tolerated(0.08)	Q59FS2_HUMAN			YES	ZNF589,missense_variant,p.Tyr276His,ENST00000354698,NM_016089.2;ZNF589,intron_variant,,ENST00000427617,;ZNF589,intron_variant,,ENST00000440261,;ZNF589,intron_variant,,ENST00000412564,;ZNF589,downstream_gene_variant,,ENST00000454212,;ZNF589,missense_variant,p.Tyr276His,ENST00000448461,;ZNF589,3_prime_UTR_variant,,ENST00000457782,;							MODERATE	826/1095	Y276H	ZN589_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000346729	8.24E-06	CCDS43085.1			1	
CACNA2D4	0	LGGM	GRCh37	12	1965274	1965274	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	47	33	.	.	ENST00000382722.5:c.2056A>T	p.Ile686Phe	p.I686F	ENST00000382722	NM_172364.4	686	Atc/Ttc	0	1	1	UPI0000E593D9	0	NA	ENST00000382722		ENSG00000151062	20202		80	1.995		HGNC	p.I661F		CACNA2D4		SNV			1				ENST00000587995	protein_coding	getma.org/?cm=var&var=hg19,12,1965274,T,A&fts=all		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26		I/F		A	medium	2419/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=581&re=780&var=I686F	deleterious(0.01)				YES	CACNA2D4,missense_variant,p.Ile686Phe,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Ile661Phe,ENST00000587995,;CACNA2D4,missense_variant,p.Ile686Phe,ENST00000586184,;CACNA2D4,missense_variant,p.Ile622Phe,ENST00000588077,;CACNA2D4,missense_variant,p.Ile622Phe,ENST00000585708,;CACNA2D4,missense_variant,p.Ile547Phe,ENST00000585732,;CACNA2D4,splice_region_variant,,ENST00000539048,;CACNA2D4,splice_region_variant,,ENST00000280663,;CACNA2D4,splice_region_variant,,ENST00000444595,;CACNA2D4,upstream_gene_variant,,ENST00000537784,;							MODERATE	2056/3414	I686F	CA2D4_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000372169		CCDS44785.1			1	
GPR155	0	LGGM	GRCh37	2	175326133	175326133	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	38	35	.	.	ENST00000392552.2:c.1557A>G	p.Glu519=	p.E519=	ENST00000392552	NM_152529.6	519	gaA/gaG	0	1		UPI000013E262	0		ENST00000295500		ENSG00000163328	22951		73			HGNC	p.E519E		GPR155		SNV							ENST00000295500	protein_coding			hmmpanther:PTHR22829		E		C		1902/3930								GPR155,synonymous_variant,p.=,ENST00000392552,NM_152529.6,NM_001267051.1;GPR155,synonymous_variant,p.=,ENST00000392551,NM_001267050.1;GPR155,synonymous_variant,p.=,ENST00000295500,NM_001033045.3;							LOW	1557/2613		GP155_HUMAN			Transcript			.	ENSP00000295500		CCDS2259.1			1	
STXBP3	0	LGGM	GRCh37	1	109325054	109325054	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	41	35	.	.	ENST00000370008.3:c.820G>A	p.Asp274Asn	p.D274N	ENST00000370008	NM_007269.2	274	Gat/Aat	0	1	1	UPI000000DC53	0	getma.org/pdb.php?prot=STXB3_HUMAN&from=32&to=576&var=D274N	ENST00000370008		ENSG00000116266	11446		76	1.67		HGNC	p.D274N		STXBP3		SNV							ENST00000370008	protein_coding	getma.org/?cm=var&var=hg19,1,109325054,G,A&fts=all		Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:3.90.830.10,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33		D/N		A	low	870/2478		getma.org/?cm=msa&ty=f&p=STXB3_HUMAN&rb=32&re=576&var=D274N	tolerated(0.47)				YES	STXBP3,missense_variant,p.Asp274Asn,ENST00000370008,NM_007269.2;STXBP3,downstream_gene_variant,,ENST00000485167,;STXBP3,non_coding_transcript_exon_variant,,ENST00000495245,;							MODERATE	820/1779	D274N	STXB3_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000359025		CCDS790.1			1	
VPS13C	0	LGGM	GRCh37	15	62253903	62253903	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	39	35	.	.	ENST00000261517.5:c.3793G>C	p.Asp1265His	p.D1265H	ENST00000261517	NM_020821.2	1265	Gat/Cat	0	1	1	UPI000023B7D3	0	NA	ENST00000261517		ENSG00000129003	23594		74	3.07		HGNC	p.D1265H		VPS13C		SNV							ENST00000261517	protein_coding	getma.org/?cm=var&var=hg19,15,62253903,C,G&fts=all		hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166		D/H		G	medium	3867/13400		getma.org/?cm=msa&ty=f&p=VP13C_HUMAN&rb=1120&re=1319&var=D1265H	deleterious(0)	B4E2S9_HUMAN,B3KW10_HUMAN			YES	VPS13C,missense_variant,p.Asp1265His,ENST00000261517,NM_020821.2;VPS13C,missense_variant,p.Asp1222His,ENST00000249837,NM_017684.4;VPS13C,missense_variant,p.Asp1265His,ENST00000395896,NM_001018088.2;VPS13C,missense_variant,p.Asp1222His,ENST00000395898,NM_018080.3;VPS13C,upstream_gene_variant,,ENST00000558088,;							MODERATE	3793/11262	D1265H	VP13C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261517		CCDS32257.1			1	
PRUNE2	0	LGGM	GRCh37	9	79323773	79323773	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	82	76	.	.	ENST00000376718.3:c.3417T>A	p.Asp1139Glu	p.D1139E	ENST00000376718	NM_015225.2	1139	gaT/gaA	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		158	0.975		HGNC	p.D1139E		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79323773,A,T&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		D/E		T	low	3541/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=965&re=1164&var=D1139E	deleterious(0.02)				YES	PRUNE2,missense_variant,p.Asp780Glu,ENST00000428286,;PRUNE2,missense_variant,p.Asp1139Glu,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Asp461Glu,ENST00000426088,;							MODERATE	3417/9267	D1139E	PRUN2_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000365908		CCDS47982.1			1	
LUZP1	0	LGGM	GRCh37	1	23419905	23419905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	12	37	.	.	ENST00000302291.4:c.850G>A	p.Glu284Lys	p.E284K	ENST00000302291		284	Gaa/Aaa	0	1	1	UPI000020466A	0	NA	ENST00000302291		ENSG00000169641	14985		49	2.505		HGNC	p.E284K		LUZP1		SNV							ENST00000302291	protein_coding	getma.org/?cm=var&var=hg19,1,23419905,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166:SF7,hmmpanther:PTHR23166		E/K		T	medium	1652/8898		getma.org/?cm=msa&ty=f&p=LUZP1_HUMAN&rb=1&re=1074&var=E284K	deleterious(0.01)	E5RHU7_HUMAN,E5RFK8_HUMAN			YES	LUZP1,missense_variant,p.Glu284Lys,ENST00000302291,;LUZP1,missense_variant,p.Glu284Lys,ENST00000418342,NM_001142546.1,NM_033631.3;LUZP1,missense_variant,p.Glu284Lys,ENST00000374623,NM_033631.3;LUZP1,missense_variant,p.Glu284Lys,ENST00000314174,;LUZP1,downstream_gene_variant,,ENST00000471849,;LUZP1,downstream_gene_variant,,ENST00000475164,;							MODERATE	850/3231	E284K	LUZP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000303758		CCDS30628.1			1	
NFATC3	0	LGGM	GRCh37	16	68225184	68225184	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	16	39	.	.	ENST00000346183.3:c.2612A>G	p.His871Arg	p.H871R	ENST00000346183	NM_173165.2	871	cAt/cGt	0	1	1	UPI0000000C21	0	NA	ENST00000346183		ENSG00000072736	7777		55	0.695		HGNC	p.H871R		NFATC3		SNV							ENST00000575270	protein_coding	getma.org/?cm=var&var=hg19,16,68225184,A,G&fts=all		hmmpanther:PTHR12533:SF6,hmmpanther:PTHR12533		H/R		G	neutral	2636/6040		getma.org/?cm=msa&ty=f&p=NFAC3_HUMAN&rb=793&re=992&var=H871R	deleterious_low_confidence(0.03)	B5B2S4_HUMAN,B5B2S1_HUMAN			YES	NFATC3,missense_variant,p.His871Arg,ENST00000349223,NM_173163.2;NFATC3,missense_variant,p.His871Arg,ENST00000329524,NM_004555.3;NFATC3,missense_variant,p.His871Arg,ENST00000346183,NM_173165.2;NFATC3,missense_variant,p.His871Arg,ENST00000575270,;NFATC3,missense_variant,p.His856Arg,ENST00000562926,;NFATC3,missense_variant,p.His856Arg,ENST00000570212,;SNORA48,downstream_gene_variant,,ENST00000391143,;NFATC3,non_coding_transcript_exon_variant,,ENST00000535127,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563319,;NFATC3,non_coding_transcript_exon_variant,,ENST00000566301,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563288,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563796,;NFATC3,non_coding_transcript_exon_variant,,ENST00000569766,;NFATC3,non_coding_transcript_exon_variant,,ENST00000567152,;NFATC3,3_prime_UTR_variant,,ENST00000539828,;NFATC3,non_coding_transcript_exon_variant,,ENST00000553077,;NFATC3,non_coding_transcript_exon_variant,,ENST00000549350,;NFATC3,non_coding_transcript_exon_variant,,ENST00000379165,;							MODERATE	2612/3228	H871R	NFAC3_HUMAN			Transcript		benign(0.206)	.	ENSP00000300659		CCDS10860.1			1	
ZNF217	0	LGGM	GRCh37	20	52193210	52193210	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	44	39	.	.	ENST00000371471.2:c.2093C>A	p.Pro698Gln	p.P698Q	ENST00000371471		698	cCg/cAg	0	1		UPI000013C323	0	NA	ENST00000302342		ENSG00000171940	13009		83	1.735		HGNC	p.P698Q		ZNF217		SNV							ENST00000371471	protein_coding	getma.org/?cm=var&var=hg19,20,52193210,G,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6		P/Q		T	low	2364/5633		getma.org/?cm=msa&ty=f&p=ZN217_HUMAN&rb=621&re=1046&var=P698Q	deleterious(0.02)	A2A326_HUMAN				ZNF217,missense_variant,p.Pro698Gln,ENST00000371471,;ZNF217,missense_variant,p.Pro698Gln,ENST00000302342,NM_006526.2;ZNF217,upstream_gene_variant,,ENST00000437222,;RP4-724E16.2,downstream_gene_variant,,ENST00000424252,;							MODERATE	2093/3147	P698Q	ZN217_HUMAN			Transcript		possibly_damaging(0.624)	.	ENSP00000304308		CCDS13443.1			1	
TRPC6	0	LGGM	GRCh37	11	101374943	101374943	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	54	39	.	.	ENST00000344327.3:c.757T>C	p.Cys253Arg	p.C253R	ENST00000344327	NM_004621.5	253	Tgc/Cgc	0	1	1	UPI00001374BA	0	NA	ENST00000344327		ENSG00000137672	12338		93	3.155		HGNC	p.C253R		TRPC6		SNV			1				ENST00000344327	protein_coding	getma.org/?cm=var&var=hg19,11,101374943,A,G&fts=all		Pfam_domain:PF08344,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870		C/R		G	medium	1182/4612		getma.org/?cm=msa&ty=f&p=TRPC6_HUMAN&rb=253&re=315&var=C253R	deleterious(0)	B3KNL3_HUMAN			YES	TRPC6,missense_variant,p.Cys253Arg,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Cys253Arg,ENST00000532133,;TRPC6,missense_variant,p.Cys253Arg,ENST00000360497,;TRPC6,missense_variant,p.Cys253Arg,ENST00000348423,;TRPC6,downstream_gene_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;							MODERATE	757/2796	C253R	TRPC6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000340913		CCDS8311.1			1	
CLNK	0	LGGM	GRCh37	4	10599637	10599637	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	33	40	.	.	ENST00000226951.6:c.48T>C	p.Asp16=	p.D16=	ENST00000226951	NM_052964.2	16	gaT/gaC	0	1	1	UPI000004A23A	0		ENST00000226951		ENSG00000109684	17438		73			HGNC	p.D16D		CLNK		SNV							ENST00000226951	protein_coding			hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF2		D		G		288/5599				D6RJB9_HUMAN			YES	CLNK,synonymous_variant,p.=,ENST00000226951,NM_052964.2;CLNK,5_prime_UTR_variant,,ENST00000507719,;CLNK,5_prime_UTR_variant,,ENST00000442825,;							LOW	48/1287		CLNK_HUMAN			Transcript			.	ENSP00000226951		CCDS47024.1			1	
HNMT	0	LGGM	GRCh37	2	138762707	138762707	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	62	45	.	.	ENST00000280097.3:c.435G>A	p.Leu145=	p.L145=	ENST00000280097	NM_006895.2	145	ctG/ctA	0	1	1	UPI0000001BD1	0		ENST00000280097		ENSG00000150540	5028		107			HGNC	p.L145L		HNMT		SNV							ENST00000280097	protein_coding			Gene3D:3.40.50.150,Pfam_domain:PF13489,PIRSF_domain:PIRSF016616,PROSITE_profiles:PS51597,hmmpanther:PTHR16897,hmmpanther:PTHR16897:SF2,Superfamily_domains:SSF53335		L		A		617/3291							YES	HNMT,synonymous_variant,p.=,ENST00000280097,NM_006895.2;HNMT,synonymous_variant,p.=,ENST00000410115,;HNMT,non_coding_transcript_exon_variant,,ENST00000485653,;HNMT,downstream_gene_variant,,ENST00000467390,;							LOW	435/879		HNMT_HUMAN			Transcript			.	ENSP00000280097		CCDS2181.1			1	
TFB2M	0	LGGM	GRCh37	1	246707928	246707928	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	29	48	.	.	ENST00000366514.4:c.914A>T	p.Gln305Leu	p.Q305L	ENST00000366514	NM_022366.2	305	cAa/cTa	0	1	1	UPI0000073CFC	0	NA	ENST00000366514		ENSG00000162851	18559		77	0.345		HGNC	p.Q305L		TFB2M		SNV							ENST00000366514	protein_coding	getma.org/?cm=var&var=hg19,1,246707928,T,A&fts=all		Pfam_domain:PF00398,PIRSF_domain:PIRSF027833,PROSITE_profiles:PS51689,hmmpanther:PTHR11727,hmmpanther:PTHR11727:SF13,Superfamily_domains:SSF53335		Q/L		A	neutral	1100/1848		getma.org/?cm=msa&ty=f&p=TFB2M_HUMAN&rb=72&re=379&var=Q305L	deleterious(0.01)				YES	TFB2M,missense_variant,p.Gln305Leu,ENST00000366514,NM_022366.2;TFB2M,downstream_gene_variant,,ENST00000544618,;							MODERATE	914/1191	Q305L	TFB2M_HUMAN			Transcript		benign(0.033)	.	ENSP00000355471		CCDS1627.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26236953	26236953	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	72	48	.	.	ENST00000354667.4:c.282A>C	p.Lys94Asn	p.K94N	ENST00000354667	NM_031243.2	94	aaA/aaC	0	1	1	UPI000002F091	0	getma.org/pdb.php?prot=ROA2_HUMAN&from=21&to=104&var=K94N	ENST00000354667		ENSG00000122566	5033		120	1.645		HGNC	p.K94N		HNRNPA2B1		SNV			1				ENST00000354667	protein_coding	getma.org/?cm=var&var=hg19,7,26236953,T,G&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		K/N		G	low	451/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=21&re=104&var=K94N	deleterious(0.01)				YES	HNRNPA2B1,missense_variant,p.Lys94Asn,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Lys82Asn,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;HNRNPA2B1,missense_variant,p.Lys94Asn,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;							MODERATE	282/1062	K94N	ROA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000346694		CCDS43557.1			1	
OR5D18	0	LGGM	GRCh37	11	55587306	55587306	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	73	49	.	.	ENST00000333976.4:c.201C>A	p.Leu67=	p.L67=	ENST00000333976	NM_001001952.1	67	ctC/ctA	0	1	1	UPI0000046197	0		ENST00000333976		ENSG00000186119	15285		122			HGNC	p.L67L		OR5D18		SNV							ENST00000333976	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		221/988							YES	OR5D18,synonymous_variant,p.=,ENST00000333976,NM_001001952.1;							LOW	201/942		OR5DI_HUMAN			Transcript			.	ENSP00000335025		CCDS31510.1			1	
CSF1R	0	LGGM	GRCh37	5	149435782	149435782	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	47	49	.	.	ENST00000286301.3:c.2442T>C	p.Asn814=	p.N814=	ENST00000286301	NM_005211.3	814	aaT/aaC	0	1	1	UPI000004984A	0		ENST00000286301		ENSG00000182578	2433		96			HGNC	p.N814N		CSF1R		SNV			1				ENST00000286301	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF56112		N		G		2734/3989				Q6LEI2_HUMAN,D6RGW1_HUMAN			YES	CSF1R,splice_region_variant,p.=,ENST00000286301,NM_005211.3,NM_001288705.1;HMGXB3,downstream_gene_variant,,ENST00000503427,;HMGXB3,downstream_gene_variant,,ENST00000502717,NM_014983.2;CSF1R,downstream_gene_variant,,ENST00000515239,;CSF1R,splice_region_variant,,ENST00000504875,;CSF1R,splice_region_variant,,ENST00000515068,;CSF1R,upstream_gene_variant,,ENST00000509861,;CSF1R,downstream_gene_variant,,ENST00000513609,;							LOW	2442/2919		CSF1R_HUMAN			Transcript			.	ENSP00000286301		CCDS4302.1			1	
AFTPH	0	LGGM	GRCh37	2	64780000	64780000	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	67	50	.	.	ENST00000238855.7:c.1392T>G	p.Ser464=	p.S464=	ENST00000238855	NM_203437.3	464	tcT/tcG	0	1	1	UPI00003E1F8E	0		ENST00000238855		ENSG00000119844	25951		117			HGNC	p.S464S		AFTPH		SNV							ENST00000238855	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156		S		G		1706/4087							YES	AFTPH,synonymous_variant,p.=,ENST00000422803,;AFTPH,synonymous_variant,p.=,ENST00000238855,NM_203437.3;AFTPH,synonymous_variant,p.=,ENST00000238856,NM_001002243.2,NM_017657.4;AFTPH,synonymous_variant,p.=,ENST00000409933,;AFTPH,synonymous_variant,p.=,ENST00000409183,;AFTPH,upstream_gene_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;							LOW	1392/2811		AFTIN_HUMAN			Transcript			.	ENSP00000238855		CCDS46303.1			1	
USP44	0	LGGM	GRCh37	12	95926849	95926849	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	51	50	.	.	ENST00000258499.3:c.1184G>A	p.Gly395Glu	p.G395E	ENST00000258499	NM_032147.3	395	gGa/gAa	0	1	1	UPI000013CFDB	0	getma.org/pdb.php?prot=UBP44_HUMAN&from=270&to=675&var=G395E	ENST00000258499		ENSG00000136014	20064		101	2.31		HGNC	p.G395E	rs777568664	USP44		SNV							ENST00000537435	protein_coding	getma.org/?cm=var&var=hg19,12,95926849,C,T&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF401,Superfamily_domains:SSF54001		G/E		T	medium	1473/4022		getma.org/?cm=msa&ty=f&p=UBP44_HUMAN&rb=270&re=675&var=G395E	deleterious(0)	F8VVD6_HUMAN,F8VRW0_HUMAN			YES	USP44,missense_variant,p.Gly395Glu,ENST00000258499,NM_032147.3;USP44,missense_variant,p.Gly395Glu,ENST00000393091,NM_001042403.2;USP44,missense_variant,p.Gly395Glu,ENST00000537435,NM_001278393.1;USP44,missense_variant,p.Gly395Glu,ENST00000552440,;USP44,downstream_gene_variant,,ENST00000549639,;USP44,downstream_gene_variant,,ENST00000551837,;USP44,upstream_gene_variant,,ENST00000552237,;	0.000116						MODERATE	1184/2139	G395E	UBP44_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000258499	8.24E-06	CCDS9053.1			1	
ATM	0	LGGM	GRCh37	11	108163467	108163467	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	76	51	.	.	ENST00000278616.4:c.4558A>G	p.Ile1520Val	p.I1520V	ENST00000278616	NM_000051.3	1520	Att/Gtt	0	1	1	UPI0000DBEF44	0	NA	ENST00000278616		ENSG00000149311	795		127	1.61		HGNC	p.I1520V		ATM		SNV			1				ENST00000452508	protein_coding	getma.org/?cm=var&var=hg19,11,108163467,A,G&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66		I/V		G	low	4943/13147		getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=1367&re=1566&var=I1520V	tolerated(0.05)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,missense_variant,p.Ile1520Val,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Ile1520Val,ENST00000452508,;ATM,intron_variant,,ENST00000531525,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,upstream_gene_variant,,ENST00000533690,;ATM,downstream_gene_variant,,ENST00000533733,;ATM,upstream_gene_variant,,ENST00000531957,;							MODERATE	4558/9171	I1520V	ATM_HUMAN			Transcript		benign(0.144)	.	ENSP00000278616		CCDS31669.1			1	
FABP9	0	LGGM	GRCh37	8	82373754	82373754	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	64	58	.	.	ENST00000379071.2:c.5T>G	p.Val2Gly	p.V2G	ENST00000379071	NM_001080526.1	2	gTt/gGt	0	1	1	UPI000004D28E	0	getma.org/pdb.php?prot=FABP9_HUMAN&from=1&to=5&var=V2G	ENST00000379071		ENSG00000205186	3563		122	2.51		HGNC	p.V2G		FABP9		SNV							ENST00000379071	protein_coding	getma.org/?cm=var&var=hg19,8,82373754,A,C&fts=all		Gene3D:2.40.128.20,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF70,Superfamily_domains:SSF50814		V/G		C	medium	61/497		getma.org/?cm=msa&ty=f&p=FABP9_HUMAN&rb=1&re=35&var=V2G	deleterious(0)				YES	FABP9,missense_variant,p.Val2Gly,ENST00000379071,NM_001080526.1;RP11-157I4.4,intron_variant,,ENST00000524085,;							MODERATE	5/399	V2G	FABP9_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000368362					1	
SCAPER	0	LGGM	GRCh37	15	77087682	77087682	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	69	59	.	.	ENST00000563290.1:c.711A>C	p.Ser237=	p.S237=	ENST00000563290		237	tcA/tcC	0	1		UPI0000E59CC3	0		ENST00000324767		ENSG00000140386	13081		128			HGNC	p.S237S		SCAPER		SNV							ENST00000564590	protein_coding			hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2		S		G		770/4707				H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN				SCAPER,synonymous_variant,p.=,ENST00000563290,;SCAPER,synonymous_variant,p.=,ENST00000324767,NM_020843.2;SCAPER,synonymous_variant,p.=,ENST00000564590,;SCAPER,synonymous_variant,p.=,ENST00000565970,;SCAPER,synonymous_variant,p.=,ENST00000568382,;SCAPER,5_prime_UTR_variant,,ENST00000538941,NM_001145923.1;SCAPER,downstream_gene_variant,,ENST00000564177,;SCAPER,downstream_gene_variant,,ENST00000565372,;SCAPER,non_coding_transcript_exon_variant,,ENST00000562890,;SCAPER,non_coding_transcript_exon_variant,,ENST00000567618,;SCAPER,synonymous_variant,p.=,ENST00000568549,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;							LOW	711/4203		SCAPE_HUMAN			Transcript			.	ENSP00000326924		CCDS53962.1			1	
ZNF665	0	LGGM	GRCh37	19	53669156	53669156	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	94	59	.	.	ENST00000396424.3:c.587A>G	p.His196Arg	p.H196R	ENST00000396424	NM_024733.3	196	cAt/cGt	0	1		UPI000013F406	0	getma.org/pdb.php?prot=ZN665_HUMAN&from=127&to=152&var=H131R	ENST00000600412		ENSG00000197497	25885		153	2.685		HGNC	p.H131R	rs560176422	ZNF665	0.000303	SNV							ENST00000600412	protein_coding	getma.org/?cm=var&var=hg19,19,53669156,T,C&fts=all	C:0	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		H/R		C	medium	508/2273		getma.org/?cm=msa&ty=f&p=ZN665_HUMAN&rb=107&re=172&var=H131R	deleterious(0.01)		C:0	C:0.002		ZNF665,missense_variant,p.His131Arg,ENST00000600412,;ZNF665,missense_variant,p.His196Arg,ENST00000396424,NM_024733.3;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;	0.000116	C:0.0010					MODERATE	392/1842	H131R	ZN665_HUMAN		C:0	Transcript		possibly_damaging(0.748)	.	ENSP00000469154	4.94E-05			C:0.0031	1	
SLC18A2	0	LGGM	GRCh37	10	119003728	119003728	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	2	59	.	.	ENST00000298472.5:c.368A>G	p.Asp123Gly	p.D123G	ENST00000298472	NM_003054.4	123	gAc/gGc	0	1	1	UPI00001389DE	0	NA	ENST00000298472		ENSG00000165646	10935		61	1.545		HGNC	p.D123G		SLC18A2		SNV			1				ENST00000298472	protein_coding	getma.org/?cm=var&var=hg19,10,119003728,A,G&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF63,Pfam_domain:PF07690,Superfamily_domains:SSF103473		D/G		G	low	511/3852		getma.org/?cm=msa&ty=f&p=VMAT2_HUMAN&rb=22&re=422&var=D123G	tolerated(0.46)				YES	SLC18A2,missense_variant,p.Asp123Gly,ENST00000298472,NM_003054.4;RP11-501J20.5,upstream_gene_variant,,ENST00000425264,;SLC18A2,non_coding_transcript_exon_variant,,ENST00000497497,;							MODERATE	368/1545	D123G	VMAT2_HUMAN			Transcript		benign(0.143)	.	ENSP00000298472		CCDS7599.1			1	
CHML	0	LGGM	GRCh37	1	241798747	241798747	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	128	60	.	.	ENST00000366553.1:c.322G>T	p.Asp108Tyr	p.D108Y	ENST00000366553	NM_001821.3	108	Gat/Tat	0	1	1	UPI0000073C74	0		ENST00000366553		ENSG00000203668	1941		188			HGNC	p.D108Y		CHML		SNV							ENST00000366553	protein_coding			hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905,Prints_domain:PR00893		D/Y		A		486/7078			deleterious(0)				YES	CHML,missense_variant,p.Asp108Tyr,ENST00000366553,NM_001821.3;OPN3,intron_variant,,ENST00000366554,NM_014322.2;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;							MODERATE	322/1971		RAE2_HUMAN			Transcript		possibly_damaging(0.531)	.	ENSP00000355511		CCDS31073.1			1	
RPRD2	0	LGGM	GRCh37	1	150430032	150430032	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	165	62	.	.	ENST00000369068.4:c.1139G>C	p.Gly380Ala	p.G380A	ENST00000369068	NM_015203.3	380	gGg/gCg	0	1	1	UPI00001D7CA8	0	NA	ENST00000369068		ENSG00000163125	29039		227	1.1		HGNC	p.G354A		RPRD2		SNV							ENST00000539519	protein_coding	getma.org/?cm=var&var=hg19,1,150430032,G,C&fts=all		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0		G/A		C	low	1143/4612		getma.org/?cm=msa&ty=f&p=RPRD2_HUMAN&rb=335&re=534&var=G380A	tolerated_low_confidence(0.47)				YES	RPRD2,missense_variant,p.Gly354Ala,ENST00000401000,;RPRD2,missense_variant,p.Gly380Ala,ENST00000369068,NM_015203.3;RPRD2,missense_variant,p.Gly354Ala,ENST00000539519,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;							MODERATE	1139/4386	G380A	RPRD2_HUMAN			Transcript		benign(0.003)	.	ENSP00000358064		CCDS44216.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110477349	110477349	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061039	H061039N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	104	65	.	.	ENST00000378402.5:c.8288G>T	p.Cys2763Phe	p.C2763F	ENST00000378402	NM_177531.4	2763	tGt/tTt	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		169	2.645		HGNC	p.C2763F	COSM603525	PKHD1L1		SNV						1	ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110477349,G,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		C/F		T	medium	8392/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=2705&re=2904&var=C2763F	deleterious(0)				YES	PKHD1L1,missense_variant,p.Cys2763Phe,ENST00000378402,NM_177531.4;					1		MODERATE	8288/12732	C2763F	PKHL1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000367655		CCDS47911.1			1	
RALYL	0	LGGM	GRCh37	8	85799942	85799942	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	98	66	.	.	ENST00000517638.1:c.828A>T	p.Pro276=	p.P276=	ENST00000517638	NM_001100391.1	276	ccA/ccT	0	1		UPI0000072539	0		ENST00000521268		ENSG00000184672	27036		164			HGNC	p.P263P		RALYL		SNV							ENST00000522455	protein_coding			PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968		P		T		1894/2701				E5RIX9_HUMAN,E5RG71_HUMAN				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,intron_variant,,ENST00000521376,;RALYL,intron_variant,,ENST00000518065,;							LOW	789/876		RALYL_HUMAN			Transcript			.	ENSP00000430367		CCDS55253.1			1	
SEMA6A	0	LGGM	GRCh37	5	115822494	115822494	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	101	67	.	.	ENST00000343348.6:c.913A>T	p.Ile305Phe	p.I305F	ENST00000343348	NM_020796.3	305	Atc/Ttc	0	1	1	UPI000020C463	0	getma.org/pdb.php?prot=SEM6A_HUMAN&from=56&to=491&var=I305F	ENST00000343348		ENSG00000092421	10738		168	2.415		HGNC	p.I305F		SEMA6A		SNV							ENST00000257414	protein_coding	getma.org/?cm=var&var=hg19,5,115822494,T,A&fts=all		Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036,PROSITE_profiles:PS51004		I/F		A	medium	1701/6878		getma.org/?cm=msa&ty=f&p=SEM6A_HUMAN&rb=56&re=491&var=I305F	tolerated(0.07)	D6RCR0_HUMAN,D6RAG9_HUMAN			YES	SEMA6A,missense_variant,p.Ile305Phe,ENST00000343348,NM_020796.3;SEMA6A,missense_variant,p.Ile305Phe,ENST00000257414,;SEMA6A,missense_variant,p.Ile305Phe,ENST00000510263,;SEMA6A,downstream_gene_variant,,ENST00000515009,;CTB-118N6.3,intron_variant,,ENST00000514214,;CTB-118N6.3,intron_variant,,ENST00000508640,;CTB-118N6.3,intron_variant,,ENST00000510682,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000502996,;SEMA6A,downstream_gene_variant,,ENST00000503962,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000503402,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000510024,;							MODERATE	913/3093	I305F	SEM6A_HUMAN			Transcript		benign(0.031)	.	ENSP00000345512		CCDS47256.1			1	
HRNR	0	LGGM	GRCh37	1	152192570	152192570	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	227	69	.	.	ENST00000368801.2:c.1535G>A	p.Gly512Asp	p.G512D	ENST00000368801	NM_001009931.2	512	gGt/gAt	0	1	1	UPI00001D7CAD	0	NA	ENST00000368801		ENSG00000197915	20846		296	0.55		HGNC	p.G512D	COSM414060	HRNR		SNV						1	ENST00000368801	protein_coding	getma.org/?cm=var&var=hg19,1,152192570,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571		G/D		T	neutral	1611/9623		getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=G512D		Q5W8V9_HUMAN			YES	HRNR,missense_variant,p.Gly512Asp,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;					1		MODERATE	1535/8553	G512D	HORN_HUMAN			Transcript		unknown(0)	.	ENSP00000357791		CCDS30859.1			1	
RIOK2	0	LGGM	GRCh37	5	96503491	96503491	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	71	71	.	.	ENST00000283109.3:c.1077A>T	p.Leu359=	p.L359=	ENST00000283109	NM_018343.2	359	ctA/ctT	0	1	1	UPI000013DD20	0		ENST00000283109		ENSG00000058729	18999		142			HGNC	p.L359L		RIOK2		SNV							ENST00000508447	protein_coding			hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF1		L		A		1146/3922							YES	RIOK2,synonymous_variant,p.=,ENST00000283109,NM_018343.2;RIOK2,synonymous_variant,p.=,ENST00000508447,NM_001159749.1;CTD-2215E18.1,intron_variant,,ENST00000509481,;RIOK2,upstream_gene_variant,,ENST00000511293,;RIOK2,upstream_gene_variant,,ENST00000511012,;							LOW	1077/1659		RIOK2_HUMAN			Transcript			.	ENSP00000283109		CCDS4089.1			1	
MARCH11	0	LGGM	GRCh37	5	16067739	16067739	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	118	72	.	.	ENST00000332432.8:c.1050T>C	p.Ala350=	p.A350=	ENST00000332432	NM_001102562.1	350	gcT/gcC	0	1	1	UPI00015B3D4A	0		ENST00000332432		ENSG00000183654	33609		190			HGNC	p.A350A		MARCH11		SNV							ENST00000332432	protein_coding			hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67		A		G		1250/1741							YES	MARCH11,synonymous_variant,p.=,ENST00000332432,NM_001102562.1;MARCH11,3_prime_UTR_variant,,ENST00000507111,;							LOW	1050/1209		MARHB_HUMAN			Transcript			.	ENSP00000333181		CCDS47192.1			1	
UNC13C	0	LGGM	GRCh37	15	54685310	54685310	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	76	73	.	.	ENST00000260323.11:c.4778C>T	p.Pro1593Leu	p.P1593L	ENST00000260323	NM_001080534.1	1593	cCc/cTc	0	1	1	UPI0000DD82AB	0	NA	ENST00000260323		ENSG00000137766	23149		149	2.125		HGNC	p.P1591L		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54685310,C,T&fts=all		Pfam_domain:PF06292,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		P/L		T	medium	4778/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1539&re=1646&var=P1593L	deleterious_low_confidence(0.03)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Pro1593Leu,ENST00000545554,;UNC13C,missense_variant,p.Pro1591Leu,ENST00000537900,;UNC13C,missense_variant,p.Pro1593Leu,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;							MODERATE	4778/6645	P1593L	UN13C_HUMAN			Transcript		benign(0.328)	.	ENSP00000260323		CCDS45264.1			1	
RYR2	0	LGGM	GRCh37	1	237955415	237955415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	58	75	.	.	ENST00000366574.2:c.13574C>T	p.Ser4525Phe	p.S4525F	ENST00000366574	NM_001035.2	4525	tCt/tTt	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		133	0.74		HGNC	p.S4509F		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237955415,C,T&fts=all		Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		S/F		T	neutral	13891/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=4333&re=4599&var=S4525F		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Ser4525Phe,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ser4509Phe,ENST00000542537,;RYR2,missense_variant,p.Ser4531Phe,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;							MODERATE	13574/14904	S4525F	RYR2_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000355533		CCDS55691.1			1	
NOL8	0	LGGM	GRCh37	9	95077951	95077951	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	73	76	.	.	ENST00000545558.1:c.956A>G	p.Gln319Arg	p.Q319R	ENST00000545558		319	cAg/cGg	0	1		UPI0000211A3D	0	NA	ENST00000442668		ENSG00000198000	23387		149	-0.695		HGNC	p.Q319R		NOL8		SNV							ENST00000535387	protein_coding	getma.org/?cm=var&var=hg19,9,95077951,T,C&fts=all		hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8		Q/R		C	neutral	1255/4281		getma.org/?cm=msa&ty=f&p=NOL8_HUMAN&rb=284&re=483&var=Q319R	tolerated(0.17)	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN				NOL8,missense_variant,p.Gln319Arg,ENST00000545558,;NOL8,missense_variant,p.Gln319Arg,ENST00000442668,NM_017948.5;NOL8,missense_variant,p.Gln251Arg,ENST00000358855,NM_001256394.1;NOL8,missense_variant,p.Gln251Arg,ENST00000542053,;NOL8,missense_variant,p.Gln319Arg,ENST00000535387,;NOL8,missense_variant,p.Gln319Arg,ENST00000432670,;NOL8,missense_variant,p.Gln319Arg,ENST00000433029,;NOL8,downstream_gene_variant,,ENST00000421075,;NOL8,downstream_gene_variant,,ENST00000535807,;NOL8,downstream_gene_variant,,ENST00000411621,;NOL8,downstream_gene_variant,,ENST00000536624,;NOL8,downstream_gene_variant,,ENST00000542613,;NOL8,downstream_gene_variant,,ENST00000543985,;NOL8,downstream_gene_variant,,ENST00000538215,;NOL8,missense_variant,p.Gln319Arg,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000434228,;NOL8,intron_variant,,ENST00000545444,;NOL8,downstream_gene_variant,,ENST00000445919,;NOL8,downstream_gene_variant,,ENST00000467230,;NOL8,downstream_gene_variant,,ENST00000544321,;NOL8,downstream_gene_variant,,ENST00000543260,;NOL8,downstream_gene_variant,,ENST00000542573,;NOL8,upstream_gene_variant,,ENST00000538802,;							MODERATE	956/3504	Q319R	NOL8_HUMAN			Transcript		benign(0.013)	.	ENSP00000401177		CCDS47993.1			1	
FLG	0	LGGM	GRCh37	1	152278897	152278897	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	180	77	.	.	ENST00000368799.1:c.8465A>T	p.Gln2822Leu	p.Q2822L	ENST00000368799	NM_002016.1	2822	cAg/cTg	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		257	2.35		HGNC	p.Q2822L		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152278897,T,A&fts=all		Low_complexity_(Seg):seg		Q/L		A	medium	8501/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2699&re=2848&var=Q2822L		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Gln2822Leu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	8465/12186	Q2822L	FILA_HUMAN			Transcript		benign(0.027)	.	ENSP00000357789		CCDS30860.1			1	
OR7E24	0	LGGM	GRCh37	19	9361925	9361925	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	92	79	.	.	ENST00000456448.1:c.206C>A	p.Ser69Tyr	p.S69Y	ENST00000456448	NM_001079935.1	69	tCt/tAt	0	1	1	UPI00003B2886	0	getma.org/pdb.php?prot=O7E24_HUMAN&from=1&to=156&var=S69Y	ENST00000456448		ENSG00000237521	8396		171	1.72		HGNC	p.S69Y		OR7E24		SNV							ENST00000456448	protein_coding	getma.org/?cm=var&var=hg19,19,9361925,C,A&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Superfamily_domains:SSF81321		S/Y		A	low	320/1215		getma.org/?cm=msa&ty=f&p=O7E24_HUMAN&rb=1&re=156&var=S69Y	deleterious(0.02)	O43789_HUMAN			YES	OR7E24,missense_variant,p.Ser69Tyr,ENST00000456448,NM_001079935.1;							MODERATE	206/1020	S69Y	O7E24_HUMAN			Transcript		benign(0.062)	.	ENSP00000387523		CCDS45955.1			1	
ALG10	0	LGGM	GRCh37	12	34179240	34179240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061039	H061039N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	100	79	.	.	ENST00000266483.2:c.812A>G	p.Asn271Ser	p.N271S	ENST00000266483	NM_032834.3	271	aAt/aGt	0	1	1	UPI000004E870	0	NA	ENST00000266483		ENSG00000139133	23162		179	3.58		HGNC	p.N271S		ALG10		SNV							ENST00000266483	protein_coding	getma.org/?cm=var&var=hg19,12,34179240,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12989,hmmpanther:PTHR12989:SF11,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810		N/S		G	high	1131/2393		getma.org/?cm=msa&ty=f&p=AG10A_HUMAN&rb=28&re=427&var=N271S	deleterious(0)				YES	ALG10,missense_variant,p.Asn271Ser,ENST00000266483,NM_032834.3;ALG10,intron_variant,,ENST00000538927,;AC046130.1,downstream_gene_variant,,ENST00000401300,;RP11-847H18.2,intron_variant,,ENST00000501954,;ALG10,3_prime_UTR_variant,,ENST00000541875,;ALG10,downstream_gene_variant,,ENST00000541178,;							MODERATE	812/1422	N271S	AG10A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266483		CCDS41769.1			1	
IGSF10	0	LGGM	GRCh37	3	151164288	151164288	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061039	H061039N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	105	91	.	.	ENST00000282466.3:c.3481A>G	p.Ser1161Gly	p.S1161G	ENST00000282466	NM_178822.4	1161	Agt/Ggt	0	1	1	UPI00001D629A	0	NA	ENST00000282466		ENSG00000152580	26384		196	0		HGNC	p.S1161G		IGSF10		SNV							ENST00000282466	protein_coding	getma.org/?cm=var&var=hg19,3,151164288,T,C&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29		S/G		C	neutral	3481/11067		getma.org/?cm=msa&ty=f&p=IGS10_HUMAN&rb=870&re=1561&var=S1161G	tolerated(1)				YES	IGSF10,missense_variant,p.Ser1161Gly,ENST00000282466,NM_178822.4,NM_001178145.1,NM_001178146.1;IGSF10,upstream_gene_variant,,ENST00000489791,;							MODERATE	3481/7872	S1161G	IGS10_HUMAN			Transcript		benign(0)	.	ENSP00000282466		CCDS3160.1			1	
GSTA1	0	LGGM	GRCh37	6	52658961	52658961	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061039	H061039N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061039N.bam, H061039T.bam	Illumina HiSeq	110	152	.	.	ENST00000334575.5:c.376G>T	p.Glu126Ter	p.E126*	ENST00000334575	NM_145740.3	126	Gag/Tag	0	1	1	UPI000013DA34	0	NA	ENST00000334575		ENSG00000243955	4626		262	0		HGNC	p.E126X		GSTA1		SNV							ENST00000334575	protein_coding	getma.org/?cm=var&var=hg19,6,52658961,C,A&fts=all		PROSITE_profiles:PS50405,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF115,Gene3D:1.20.1050.10,Pfam_domain:PF00043,Superfamily_domains:SSF47616		E/*		A	NA	532/1019		NA					YES	GSTA1,stop_gained,p.Glu126Ter,ENST00000334575,NM_145740.3;GSTA1,non_coding_transcript_exon_variant,,ENST00000493331,;GSTA1,non_coding_transcript_exon_variant,,ENST00000476213,;							HIGH	376/669	E126*	GSTA1_HUMAN			Transcript			.	ENSP00000335620		CCDS4945.1			1	
ARHGAP32	0	LGGM	GRCh37	11	128839017	128839017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	6	2	.	.	ENST00000310343.9:c.6049G>T	p.Val2017Leu	p.V2017L	ENST00000310343	NM_001142685.1	2017	Gtg/Ttg	0	1	1	UPI000159C61F	0	NA	ENST00000310343		ENSG00000134909	17399		8	1.355		HGNC	p.V1668L		ARHGAP32		SNV							ENST00000527272	protein_coding	getma.org/?cm=var&var=hg19,11,128839017,C,A&fts=all		hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9		V/L		A	low	6049/10111		getma.org/?cm=msa&ty=f&p=RHG32_HUMAN&rb=1404&re=2085&var=V2017L	tolerated_low_confidence(0.23)	I7H0B0_HUMAN			YES	ARHGAP32,missense_variant,p.Val2017Leu,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Val1668Leu,ENST00000392657,NM_014715.3;ARHGAP32,missense_variant,p.Val1668Leu,ENST00000527272,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;							MODERATE	6049/6264	V2017L	RHG32_HUMAN			Transcript		benign(0.001)	.	ENSP00000310561		CCDS44769.1			1	
LGALS9C	0	LGGM	GRCh37	17	18396029	18396029	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	28	3	.	.	ENST00000328114.6:c.780C>A	p.Cys260Ter	p.C260*	ENST00000328114	NM_001040078.2	260	tgC/tgA	0	1	1	UPI00006C1768	0	NA	ENST00000328114		ENSG00000171916	33874		31	0		HGNC	p.C172X		LGALS9C		SNV							ENST00000412421	protein_coding	getma.org/?cm=var&var=hg19,17,18396029,C,A&fts=all		PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899		C/*		A	NA	861/1730		NA		C9JHN9_HUMAN			YES	LGALS9C,stop_gained,p.Cys260Ter,ENST00000328114,NM_001040078.2;LGALS9C,stop_gained,p.Cys227Ter,ENST00000583322,;LGALS9C,stop_gained,p.Cys172Ter,ENST00000412421,;LGALS9C,intron_variant,,ENST00000581545,;LGALS9C,intron_variant,,ENST00000584941,;LGALS9C,downstream_gene_variant,,ENST00000582333,;LGALS9C,3_prime_UTR_variant,,ENST00000580674,;LGALS9C,3_prime_UTR_variant,,ENST00000579773,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000584127,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000577265,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000578450,;LGALS9C,intron_variant,,ENST00000577691,;LGALS9C,downstream_gene_variant,,ENST00000584170,;LGALS9C,downstream_gene_variant,,ENST00000578563,;NOS2P2,downstream_gene_variant,,ENST00000426269,;							HIGH	780/1071	C260*	LEG9C_HUMAN			Transcript			.	ENSP00000329932		CCDS32587.1			1	
RAB8B	0	LGGM	GRCh37	15	63481839	63481839	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	13	3	.	.	ENST00000321437.4:c.16G>A	p.Asp6Asn	p.D6N	ENST00000321437	NM_016530.2	6	Gat/Aat	0	1	1	UPI00000412A7	0	getma.org/pdb.php?prot=RAB8B_HUMAN&from=1&to=9&var=D6N	ENST00000321437		ENSG00000166128	30273		16	2.24		HGNC	p.D6N		RAB8B		SNV							ENST00000559006	protein_coding	getma.org/?cm=var&var=hg19,15,63481839,G,A&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF22,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00177,Superfamily_domains:SSF52540		D/N		A	medium	172/4943		getma.org/?cm=msa&ty=f&p=RAB8B_HUMAN&rb=1&re=39&var=D6N	deleterious(0.02)				YES	RAB8B,missense_variant,p.Asp6Asn,ENST00000321437,NM_016530.2;RAB8B,missense_variant,p.Asp6Asn,ENST00000448330,;RAB8B,missense_variant,p.Asp6Asn,ENST00000559006,;RAB8B,missense_variant,p.Asp6Asn,ENST00000558119,;RAB8B,missense_variant,p.Asp6Asn,ENST00000559927,;RAB8B,missense_variant,p.Asp6Asn,ENST00000558990,;							MODERATE	16/624	D6N	RAB8B_HUMAN			Transcript		benign(0.004)	.	ENSP00000312734		CCDS10183.1			1	
AGBL5	0	LGGM	GRCh37	2	27276364	27276364	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	47	3	.	.	ENST00000360131.4:c.310C>A	p.Gln104Lys	p.Q104K	ENST00000360131	NM_021831.5	104	Cag/Aag	0	1	1	UPI000006FE54	0	NA	ENST00000360131		ENSG00000084693	26147		50	2.22		HGNC	p.Q104K		AGBL5		SNV							ENST00000360131	protein_coding	getma.org/?cm=var&var=hg19,2,27276364,C,A&fts=all		hmmpanther:PTHR12756		Q/K		A	medium	469/3177		getma.org/?cm=msa&ty=f&p=CBPC5_HUMAN&rb=1&re=190&var=Q104K	deleterious(0)	C9JTY1_HUMAN,C9JQG9_HUMAN,C9JHM6_HUMAN,C9JCE1_HUMAN			YES	AGBL5,missense_variant,p.Gln104Lys,ENST00000360131,NM_021831.5;AGBL5,missense_variant,p.Gln104Lys,ENST00000323064,NM_001035507.2;AGBL5,missense_variant,p.Gln104Lys,ENST00000453161,;AGBL5,downstream_gene_variant,,ENST00000451003,;AGBL5,downstream_gene_variant,,ENST00000421915,;AGBL5,downstream_gene_variant,,ENST00000437006,;RP11-503P10.1,downstream_gene_variant,,ENST00000607407,;AGBL5-AS1,upstream_gene_variant,,ENST00000444217,;AGBL5,missense_variant,p.Gln104Lys,ENST00000487078,;AGBL5,non_coding_transcript_exon_variant,,ENST00000477136,;AGBL5,non_coding_transcript_exon_variant,,ENST00000489683,;							MODERATE	310/2661	Q104K	CBPC5_HUMAN			Transcript		possibly_damaging(0.616)	.	ENSP00000353249		CCDS1732.3			1	
R3HDM1	0	LGGM	GRCh37	2	136399129	136399129	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	45	3	.	.	ENST00000264160.4:c.1243G>T	p.Gly415Trp	p.G415W	ENST00000264160	NM_015361.2	415	Ggg/Tgg	0	1	1	UPI000007456C	0	NA	ENST00000264160		ENSG00000048991	9757		48	2.31		HGNC	p.G415W		R3HDM1		SNV							ENST00000409606	protein_coding	getma.org/?cm=var&var=hg19,2,136399129,G,T&fts=all		hmmpanther:PTHR15672,hmmpanther:PTHR15672:SF12,Low_complexity_(Seg):seg		G/W		T	medium	1613/4648		getma.org/?cm=msa&ty=f&p=R3HD1_HUMAN&rb=303&re=502&var=G415W	deleterious(0.03)	Q53SQ1_HUMAN,Q4ZG59_HUMAN			YES	R3HDM1,missense_variant,p.Gly415Trp,ENST00000264160,NM_015361.2;R3HDM1,missense_variant,p.Gly359Trp,ENST00000410054,NM_001282800.1;R3HDM1,missense_variant,p.Gly415Trp,ENST00000409606,NM_001282798.1;R3HDM1,missense_variant,p.Gly104Trp,ENST00000429703,;R3HDM1,missense_variant,p.Gly107Trp,ENST00000441871,;R3HDM1,intron_variant,,ENST00000409478,NM_001282799.1;R3HDM1,intron_variant,,ENST00000329971,;R3HDM1,intron_variant,,ENST00000425804,;R3HDM1,intron_variant,,ENST00000443537,;R3HDM1,downstream_gene_variant,,ENST00000486532,;R3HDM1,upstream_gene_variant,,ENST00000487294,;							MODERATE	1243/3300	G415W	R3HD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264160		CCDS2177.1			1	
SHB	0	LGGM	GRCh37	9	38068585	38068585	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	3	3	.	.	ENST00000377707.3:c.58C>A	p.Pro20Thr	p.P20T	ENST00000377707	NM_003028.2	20	Ccg/Acg	0	1	1	UPI000021143B	0	NA	ENST00000377707		ENSG00000107338	10838		6	1.625		HGNC	p.P20T		SHB		SNV							ENST00000377707	protein_coding	getma.org/?cm=var&var=hg19,9,38068585,G,T&fts=all		hmmpanther:PTHR15127,hmmpanther:PTHR15127:SF31		P/T		T	low	624/2783		getma.org/?cm=msa&ty=f&p=SHB_HUMAN&rb=1&re=200&var=P20T	deleterious(0)				YES	SHB,missense_variant,p.Pro20Thr,ENST00000377707,NM_003028.2;SHB,missense_variant,p.Pro20Thr,ENST00000377700,;RP11-613M10.9,missense_variant,p.Pro20Thr,ENST00000540557,;							MODERATE	58/1530	P20T	SHB_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000366936		CCDS43806.1			1	
MUC1	0	LGGM	GRCh37	1	155162042	155162042	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	3	.	.	ENST00000368395.1:c.91C>A	p.Pro31Thr	p.P31T	ENST00000368395	NM_001204285.1	31	Cca/Aca	0	1	1	UPI0000038A9F	0	NA	ENST00000368395		ENSG00000185499	7508		40	0.55		HGNC	p.P40T	rs575065522	MUC1		SNV			1	9.64E-05			ENST00000368396	protein_coding	getma.org/?cm=var&var=hg19,1,155162042,G,T&fts=all	T:0.0008			P/T		T	neutral	163/1811		getma.org/?cm=msa&ty=f&p=MUC1_HUMAN&rb=1&re=40&var=P31T	tolerated_low_confidence(0.55)	Q9UMI8_HUMAN,Q7Z545_HUMAN,Q14877_HUMAN,B1AVQ5_HUMAN	T:0	T:0	YES	MUC1,missense_variant,p.Pro31Thr,ENST00000368395,NM_001204285.1,NM_001204286.1;MUC1,missense_variant,p.Pro40Thr,ENST00000457295,;MUC1,missense_variant,p.Pro40Thr,ENST00000338684,;MUC1,missense_variant,p.Pro40Thr,ENST00000368392,NM_001018017.2,NM_001018016.2,NM_001204288.1,NM_001204287.1;MUC1,missense_variant,p.Pro31Thr,ENST00000368393,NM_001204293.1;MUC1,missense_variant,p.Pro31Thr,ENST00000438413,NM_001204289.1,NM_001204291.1,NM_001204290.1;MUC1,missense_variant,p.Pro31Thr,ENST00000337604,NM_002456.5;MUC1,missense_variant,p.Pro31Thr,ENST00000368390,;MUC1,missense_variant,p.Pro31Thr,ENST00000368398,NM_001204292.1,NM_001204294.1;MUC1,missense_variant,p.Pro31Thr,ENST00000343256,NM_001044390.2,NM_001204296.1;MUC1,missense_variant,p.Pro31Thr,ENST00000368389,;MUC1,missense_variant,p.Pro40Thr,ENST00000342482,;MUC1,missense_variant,p.Pro40Thr,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,splice_region_variant,,ENST00000466913,;MUC1,non_coding_transcript_exon_variant,,ENST00000462215,;MUC1,non_coding_transcript_exon_variant,,ENST00000498431,;MUC1,non_coding_transcript_exon_variant,,ENST00000471283,;MUC1,non_coding_transcript_exon_variant,,ENST00000467134,;MUC1,non_coding_transcript_exon_variant,,ENST00000494844,;TRIM46,downstream_gene_variant,,ENST00000468878,;MUC1,upstream_gene_variant,,ENST00000462317,;MUC1,upstream_gene_variant,,ENST00000468978,;MUC1,upstream_gene_variant,,ENST00000485118,;THBS3,downstream_gene_variant,,ENST00000469769,;THBS3,downstream_gene_variant,,ENST00000498500,;		T:0.0002					MODERATE	91/1428	P31T			T:0	Transcript		possibly_damaging(0.901)	.	ENSP00000357380	8.24E-06	CCDS55640.1		T:0	1	
ACY3	0	LGGM	GRCh37	11	67413281	67413281	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	10	3	.	.	ENST00000255082.3:c.314C>T	p.Ser105Leu	p.S105L	ENST00000255082	NM_080658.1	105	tCg/tTg	0	1	1	UPI0000073C5C	0	getma.org/pdb.php?prot=ACY3_HUMAN&from=10&to=301&var=S105L	ENST00000255082		ENSG00000132744	24104		13	1.865		HGNC	p.S105L	rs532661025	ACY3	0.000428	SNV							ENST00000255082	protein_coding	getma.org/?cm=var&var=hg19,11,67413281,G,A&fts=all	A:0	HAMAP:MF_00704,hmmpanther:PTHR15162:SF1,hmmpanther:PTHR15162,Gene3D:3.40.630.10,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,Superfamily_domains:SSF53187		S/L		A	low	485/1300		getma.org/?cm=msa&ty=f&p=ACY3_HUMAN&rb=10&re=301&var=S105L	deleterious(0)	E9PRA7_HUMAN	A:0	A:0	YES	ACY3,missense_variant,p.Ser105Leu,ENST00000255082,NM_080658.1;ACY3,5_prime_UTR_variant,,ENST00000529256,;		A:0.0002					MODERATE	314/960	S105L	ACY3_HUMAN		A:0	Transcript		possibly_damaging(0.886)	common_variant	ENSP00000255082	5.77E-05	CCDS8175.1		A:0.001	1	
LPCAT4	0	LGGM	GRCh37	15	34657765	34657765	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	34	3	.	.	ENST00000314891.6:c.252G>T	p.Trp84Cys	p.W84C	ENST00000314891	NM_153613.2	84	tgG/tgT	0	1	1	UPI00003D0606	0	NA	ENST00000314891		ENSG00000176454	30059		37	2.455		HGNC	p.W84C		LPCAT4		SNV							ENST00000314891	protein_coding	getma.org/?cm=var&var=hg19,15,34657765,C,A&fts=all		hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7		W/C		A	medium	430/1975		getma.org/?cm=msa&ty=f&p=LPCT4_HUMAN&rb=1&re=107&var=W84C	deleterious(0)	B7ZM32_HUMAN			YES	LPCAT4,missense_variant,p.Trp84Cys,ENST00000314891,NM_153613.2;LPCAT4,non_coding_transcript_exon_variant,,ENST00000562431,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000566581,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000569804,;LPCAT4,upstream_gene_variant,,ENST00000563748,;LPCAT4,upstream_gene_variant,,ENST00000563240,;LPCAT4,upstream_gene_variant,,ENST00000567507,;LPCAT4,upstream_gene_variant,,ENST00000562404,;							MODERATE	252/1575	W84C	LPCT4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000317300		CCDS32191.1			1	
CHRM3	0	LGGM	GRCh37	1	240071547	240071547	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	46	3	.	.	ENST00000255380.4:c.796G>C	p.Ala266Pro	p.A266P	ENST00000255380	NM_000740.2	266	Gct/Cct	0	1	1	UPI0000050453	0	getma.org/pdb.php?prot=ACM3_HUMAN&from=85&to=544&var=A266P	ENST00000255380		ENSG00000133019	1952		49	1.09		HGNC	p.A266P		CHRM3		SNV			1				ENST00000255380	protein_coding	getma.org/?cm=var&var=hg19,1,240071547,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF61		A/P		C	low	1575/8778		getma.org/?cm=msa&ty=f&p=ACM3_HUMAN&rb=85&re=544&var=A266P	deleterious(0.01)	Q8NG01_HUMAN,B1AN12_HUMAN			YES	CHRM3,missense_variant,p.Ala266Pro,ENST00000255380,NM_000740.2;CHRM3,downstream_gene_variant,,ENST00000448020,;							MODERATE	796/1773	A266P	ACM3_HUMAN			Transcript		possibly_damaging(0.512)	.	ENSP00000255380		CCDS1616.1			1	
CHI3L2	0	LGGM	GRCh37	1	111770366	111770366	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	23	3	.	.	ENST00000445067.2:c.15C>A	p.Thr5=	p.T5=	ENST00000445067		5	acC/acA	0	1		UPI0000126C1A	0		ENST00000369748		ENSG00000064886	1933		26			HGNC	p.T5T	COSM3688875	CHI3L2		SNV						1	ENST00000486561	protein_coding			hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF82,Cleavage_site_(Signalp):SignalP-TM		T		A		86/1468				E9PRL9_HUMAN,E9PR52_HUMAN,E9PPX4_HUMAN,E9PIX1_HUMAN				CHI3L2,synonymous_variant,p.=,ENST00000445067,;CHI3L2,synonymous_variant,p.=,ENST00000369744,NM_001025197.1;CHI3L2,synonymous_variant,p.=,ENST00000369748,NM_004000.2;CHI3L2,synonymous_variant,p.=,ENST00000528451,;CHI3L2,synonymous_variant,p.=,ENST00000486561,;CHI3L2,synonymous_variant,p.=,ENST00000474304,;CHI3L2,upstream_gene_variant,,ENST00000466741,NM_001025199.1;CHI3L2,upstream_gene_variant,,ENST00000524472,;CHI3L2,upstream_gene_variant,,ENST00000477185,;CHI3L2,upstream_gene_variant,,ENST00000467038,;CHI3L2,upstream_gene_variant,,ENST00000497587,;CHI3L2,upstream_gene_variant,,ENST00000533831,;CHI3L2,upstream_gene_variant,,ENST00000526684,;CHI3L2,upstream_gene_variant,,ENST00000530597,;					1		LOW	15/1173		CH3L2_HUMAN			Transcript			.	ENSP00000358763		CCDS30802.1			1	
SLA	0	LGGM	GRCh37	8	134050974	134050974	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	3	.	.	ENST00000427060.2:c.746A>G	p.Glu249Gly	p.E249G	ENST00000427060	NM_006748.3	249	gAg/gGg	0	1		UPI000004B144	0	NA	ENST00000338087		ENSG00000155926	10902		20	1.1		HGNC	p.E249G		SLA		SNV							ENST00000427060	protein_coding	getma.org/?cm=var&var=hg19,8,134050974,T,C&fts=all		hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF4		E/G		C	low	1446/3447		getma.org/?cm=msa&ty=f&p=SLAP1_HUMAN&rb=191&re=274&var=E209G	tolerated(0.39)	Q6FI01_HUMAN,E5RK95_HUMAN,E5RK29_HUMAN,E5RJ69_HUMAN,E5RHT2_HUMAN,E5RGG0_HUMAN,B7Z4L6_HUMAN				SLA,missense_variant,p.Glu209Gly,ENST00000338087,NM_001045556.2;SLA,missense_variant,p.Glu226Gly,ENST00000395352,NM_001045557.2;SLA,missense_variant,p.Glu249Gly,ENST00000427060,NM_006748.3;SLA,missense_variant,p.Glu101Gly,ENST00000524345,NM_001282965.1;SLA,missense_variant,p.Glu182Gly,ENST00000517648,NM_001282964.1;TG,intron_variant,,ENST00000220616,NM_003235.4;TG,intron_variant,,ENST00000377869,;TG,intron_variant,,ENST00000519178,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000519543,;SLA,non_coding_transcript_exon_variant,,ENST00000517549,;TG,intron_variant,,ENST00000523756,;							MODERATE	626/831	E209G	SLAP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000337548		CCDS6370.1			1	
MS4A12	0	LGGM	GRCh37	11	60274283	60274283	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	40	3	.	.	ENST00000016913.4:c.671C>T	p.Ala224Val	p.A224V	ENST00000016913	NM_017716.2	224	gCc/gTc	0	1	1	UPI000006D9F8	0	NA	ENST00000016913		ENSG00000071203	13370		43	1.935		HGNC	p.A178V		MS4A12		SNV							ENST00000537076	protein_coding	getma.org/?cm=var&var=hg19,11,60274283,C,T&fts=all		hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF34,Pfam_domain:PF04103		A/V		T	medium	728/1167		getma.org/?cm=msa&ty=f&p=M4A12_HUMAN&rb=90&re=225&var=A224V	tolerated(0.16)	E9PNI3_HUMAN			YES	MS4A12,missense_variant,p.Ala224Val,ENST00000016913,NM_017716.2;MS4A12,missense_variant,p.Ala178Val,ENST00000537076,NM_001164470.1;MS4A12,downstream_gene_variant,,ENST00000526784,;							MODERATE	671/804	A224V	M4A12_HUMAN			Transcript		possibly_damaging(0.674)	.	ENSP00000016913		CCDS7988.1			1	
BNC2	0	LGGM	GRCh37	9	16419082	16419082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	41	3	.	.	ENST00000380672.4:c.3205G>T	p.Gly1069Cys	p.G1069C	ENST00000380672	NM_017637.5	1069	Ggt/Tgt	0	1	1	UPI000035E7B0	0	NA	ENST00000380672		ENSG00000173068	30988		44	1.995		HGNC	p.G1002C		BNC2		SNV							ENST00000380667	protein_coding	getma.org/?cm=var&var=hg19,9,16419082,C,A&fts=all		SMART_domains:SM00355,hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2		G/C		A	medium	3263/12844		getma.org/?cm=msa&ty=f&p=BNC2_HUMAN&rb=1059&re=1099&var=G1069C	deleterious(0)	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN			YES	BNC2,missense_variant,p.Gly1069Cys,ENST00000380672,NM_017637.5;BNC2,missense_variant,p.Gly1002Cys,ENST00000380667,;BNC2,missense_variant,p.Gly974Cys,ENST00000545497,;BNC2,3_prime_UTR_variant,,ENST00000418777,;BNC2,3_prime_UTR_variant,,ENST00000411752,;BNC2,3_prime_UTR_variant,,ENST00000484726,;							MODERATE	3205/3300	G1069C	BNC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370047		CCDS6482.2			1	
SMC3	0	LGGM	GRCh37	10	112362343	112362343	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	22	3	.	.	ENST00000361804.4:c.3217G>T	p.Gly1073Trp	p.G1073W	ENST00000361804	NM_005445.3	1073	Ggg/Tgg	0	1	1	UPI0000135A8D	0	getma.org/pdb.php?prot=SMC3_HUMAN&from=2&to=1197&var=G1073W	ENST00000361804		ENSG00000108055	2468		25	1.1		HGNC	p.G1073W		SMC3		SNV			1				ENST00000361804	protein_coding	getma.org/?cm=var&var=hg19,10,112362343,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF02463,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164,Low_complexity_(Seg):seg		G/W		T	low	3343/4114		getma.org/?cm=msa&ty=f&p=SMC3_HUMAN&rb=2&re=1197&var=G1073W	deleterious(0.02)				YES	SMC3,missense_variant,p.Gly1073Trp,ENST00000361804,NM_005445.3;							MODERATE	3217/3654	G1073W	SMC3_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000354720		CCDS31285.1			1	
PTGIS	0	LGGM	GRCh37	20	48156135	48156135	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	5	3	.	.	ENST00000244043.4:c.645C>T	p.Pro215=	p.P215=	ENST00000244043	NM_000961.3	215	ccC/ccT	0	1	1	UPI00001328DF	0		ENST00000244043		ENSG00000124212	9603		8			HGNC	p.P215P	rs756706992	PTGIS		SNV				0.000106			ENST00000244043	protein_coding			hmmpanther:PTHR24306,hmmpanther:PTHR24306:SF4,Gene3D:1.10.630.10,Pfam_domain:PF00067,PIRSF_domain:PIRSF000047,PIRSF_domain:PIRSF500628,Superfamily_domains:SSF48264		P		A		675/5579				Q6LEN0_HUMAN			YES	PTGIS,synonymous_variant,p.=,ENST00000244043,NM_000961.3;PTGIS,non_coding_transcript_exon_variant,,ENST00000478971,;							LOW	645/1503		PTGIS_HUMAN			Transcript			.	ENSP00000244043	8.24E-06	CCDS13419.1			1	
SATB2	0	LGGM	GRCh37	2	200213697	200213697	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	43	3	.	.	ENST00000417098.1:c.900C>A	p.Pro300=	p.P300=	ENST00000417098	NM_001172509.1	300	ccC/ccA	0	1		UPI00000336B1	0		ENST00000260926		ENSG00000119042	21637		46			HGNC	p.P300P		SATB2		SNV			1				ENST00000457245	protein_coding			hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF15,Low_complexity_(Seg):seg		P		T		1313/5318				Q59FT3_HUMAN				SATB2,synonymous_variant,p.=,ENST00000443023,;SATB2,synonymous_variant,p.=,ENST00000417098,NM_001172509.1;SATB2,synonymous_variant,p.=,ENST00000260926,NM_001172517.1;SATB2,synonymous_variant,p.=,ENST00000457245,NM_015265.3;SATB2,synonymous_variant,p.=,ENST00000428695,;SATB2,non_coding_transcript_exon_variant,,ENST00000483346,;							LOW	900/2202		SATB2_HUMAN			Transcript			.	ENSP00000260926		CCDS2327.1			1	
MCM3AP	0	LGGM	GRCh37	21	47663617	47663617	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	1	3	.	.	ENST00000397708.1:c.5058C>T	p.Cys1686=	p.C1686=	ENST00000397708		1686	tgC/tgT	0	1		UPI000012ED4A	0		ENST00000291688		ENSG00000160294	6946		4			HGNC	p.C1686C		MCM3AP		SNV							ENST00000291688	protein_coding			hmmpanther:PTHR12436,hmmpanther:PTHR12436:SF18		C		A		5094/6113				N0GVG8_HUMAN,B3KWZ4_HUMAN				MCM3AP,synonymous_variant,p.=,ENST00000397708,;MCM3AP,synonymous_variant,p.=,ENST00000291688,NM_003906.3;MCM3AP-AS1,non_coding_transcript_exon_variant,,ENST00000591223,;MCM3AP-AS1,intron_variant,,ENST00000414659,;MCM3AP-AS1,intron_variant,,ENST00000455567,;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,intron_variant,,ENST00000588753,;MCM3AP-AS1,downstream_gene_variant,,ENST00000432735,;MCM3AP-AS1,downstream_gene_variant,,ENST00000421927,;MCM3AP-AS1,downstream_gene_variant,,ENST00000444998,;AP001469.7,upstream_gene_variant,,ENST00000444966,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000467026,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;							LOW	5058/5943		GANP_HUMAN			Transcript			.	ENSP00000291688		CCDS13734.1			1	
AREL1	0	LGGM	GRCh37	14	75142644	75142644	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	44	3	.	.	ENST00000356357.4:c.838G>T	p.Glu280Ter	p.E280*	ENST00000356357	NM_001039479.1	280	Gag/Tag	0	1	1	UPI0000073D44	0	NA	ENST00000356357		ENSG00000119682	20363		47	0		HGNC	p.E280X		AREL1		SNV							ENST00000356357	protein_coding	getma.org/?cm=var&var=hg19,14,75142644,C,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF284		E/*		A	NA	1354/5456		NA		H0YJ67_HUMAN,G3V506_HUMAN,G3V245_HUMAN			YES	AREL1,stop_gained,p.Glu280Ter,ENST00000356357,NM_001039479.1;AREL1,stop_gained,p.Glu119Ter,ENST00000556202,;AREL1,stop_gained,p.Glu28Ter,ENST00000490805,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,stop_gained,p.Glu280Ter,ENST00000555330,;AREL1,3_prime_UTR_variant,,ENST00000553411,;AREL1,3_prime_UTR_variant,,ENST00000553279,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;AREL1,non_coding_transcript_exon_variant,,ENST00000556327,;AREL1,upstream_gene_variant,,ENST00000481010,;							HIGH	838/2472	E280*	AREL1_HUMAN			Transcript			.	ENSP00000348714		CCDS41971.1			1	
FAM83A	0	LGGM	GRCh37	8	124195224	124195224	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	7	3	.	.	ENST00000518448.1:c.128T>A	p.Leu43Ter	p.L43*	ENST00000518448		43	tTg/tAg	0	1	1	UPI000019275C	0	NA	ENST00000518448		ENSG00000147689	28210		10	0		HGNC	p.L43X		FAM83A		SNV							ENST00000276699	protein_coding	getma.org/?cm=var&var=hg19,8,124195224,T,A&fts=all		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF1,Pfam_domain:PF07894		L/*		A	NA	2142/5393		NA					YES	FAM83A,stop_gained,p.Leu43Ter,ENST00000518448,;FAM83A,stop_gained,p.Leu43Ter,ENST00000318462,NM_032899.4;FAM83A,stop_gained,p.Leu43Ter,ENST00000536633,;FAM83A,stop_gained,p.Leu43Ter,ENST00000276699,NM_207006.1;FAM83A,stop_gained,p.Leu43Ter,ENST00000546351,NM_001288587.1;FAM83A,stop_gained,p.Leu43Ter,ENST00000522648,;U3,upstream_gene_variant,,ENST00000408534,;RP11-539E17.5,upstream_gene_variant,,ENST00000522383,;FAM83A,downstream_gene_variant,,ENST00000523819,;FAM83A,upstream_gene_variant,,ENST00000521468,;FAM83A,downstream_gene_variant,,ENST00000523412,;FAM83A,downstream_gene_variant,,ENST00000520541,;							HIGH	128/1305	L43*	FA83A_HUMAN			Transcript			.	ENSP00000428876		CCDS6340.1			1	
SRGAP1	0	LGGM	GRCh37	12	64505706	64505706	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	41	3	.	.	ENST00000355086.3:c.2084C>A	p.Pro695Gln	p.P695Q	ENST00000355086	NM_020762.2	695	cCa/cAa	0	1	1	UPI00001A9CB9	0	NA	ENST00000355086		ENSG00000196935	17382		44	2.92		HGNC	p.P672Q		SRGAP1		SNV							ENST00000357825	protein_coding	getma.org/?cm=var&var=hg19,12,64505706,C,A&fts=all		hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Gene3D:1.10.555.10		P/Q		A	medium	2608/8943		getma.org/?cm=msa&ty=f&p=SRGP1_HUMAN&rb=673&re=748&var=P695Q	deleterious(0)				YES	SRGAP1,missense_variant,p.Pro695Gln,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.Pro672Gln,ENST00000357825,;SRGAP1,missense_variant,p.Pro632Gln,ENST00000543397,;RP11-196H14.4,intron_variant,,ENST00000535806,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537585,;							MODERATE	2084/3258	P695Q	SRGP1_HUMAN			Transcript		possibly_damaging(0.696)	.	ENSP00000347198		CCDS8967.1			1	
DIRC2	0	LGGM	GRCh37	3	122564611	122564611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	9	3	.	.	ENST00000261038.5:c.835A>G	p.Asn279Asp	p.N279D	ENST00000261038	NM_032839.2	279	Aat/Gat	0	1	1	UPI0000073CC7	0	NA	ENST00000261038		ENSG00000138463	16628		12	1.9		HGNC	p.N279D		DIRC2		SNV							ENST00000261038	protein_coding	getma.org/?cm=var&var=hg19,3,122564611,A,G&fts=all		hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF0,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		N/D		G	low	1233/3596		getma.org/?cm=msa&ty=f&p=DIRC2_HUMAN&rb=1&re=476&var=N279D	deleterious(0.01)				YES	DIRC2,missense_variant,p.Asn279Asp,ENST00000261038,NM_032839.2;DIRC2,splice_region_variant,,ENST00000477647,;							MODERATE	835/1437	N279D	DIRC2_HUMAN			Transcript		possibly_damaging(0.614)	.	ENSP00000261038		CCDS3018.1			1	
TP53	0	LGGM	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	10	3	.	.	ENST00000269305.4:c.614A>T	p.Tyr205Phe	p.Y205F	ENST00000269305	NM_001126112.2	205	tAt/tTt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y205F	ENST00000269305		ENSG00000141510	11998		13	2.99		HGNC	p.Y205F	TP53_g.12683A>T,COSM11351	TP53		SNV			1			0,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578235,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/F		A	medium	804/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y205F	deleterious(0)	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			YES	TP53,missense_variant,p.Tyr205Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr205Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr205Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr205Phe,ENST00000445888,;TP53,missense_variant,p.Tyr205Phe,ENST00000359597,;TP53,missense_variant,p.Tyr205Phe,ENST00000413465,;TP53,missense_variant,p.Tyr73Phe,ENST00000509690,;TP53,missense_variant,p.Tyr112Phe,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,;					0,1		MODERATE	614/1182	Y205F	P53_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000269305		CCDS11118.1			1	
CSPP1	0	LGGM	GRCh37	8	68004095	68004095	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	3	.	.	ENST00000262210.5:c.412-1683A>G		*138*	ENST00000262210	NM_024790.6			0	1	1	UPI00005A95D7	0		ENST00000262210		ENSG00000104218	26193	0.000167	11			HGNC	p.I121V	rs759877480	CSPP1		SNV			1				ENST00000521919	protein_coding							G		-/4367	2.81E-05						YES	CSPP1,missense_variant,p.Ile121Val,ENST00000521919,;CSPP1,5_prime_UTR_variant,,ENST00000412460,;CSPP1,intron_variant,,ENST00000262210,NM_024790.6;CSPP1,intron_variant,,ENST00000519668,;CSPP1,missense_variant,p.Ile129Val,ENST00000519163,;CSPP1,3_prime_UTR_variant,,ENST00000519701,;							MODIFIER	-/3666		CSPP1_HUMAN			Transcript			.	ENSP00000262210	2.48E-05	CCDS43744.1			1	
PREX1	0	LGGM	GRCh37	20	47251314	47251314	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	19	4	.	.	ENST00000371941.3:c.4168-1G>C		p.X1390_splice	ENST00000371941	NM_020820.3			0	1	1	UPI000013D375	0		ENST00000371941		ENSG00000124126	32594		23			HGNC	-		PREX1		SNV							ENST00000371941	protein_coding							G		-/6636							YES	PREX1,splice_acceptor_variant,,ENST00000396220,;PREX1,splice_acceptor_variant,,ENST00000371941,NM_020820.3;PREX1,splice_acceptor_variant,,ENST00000482556,;							HIGH	4168/4980		PREX1_HUMAN			Transcript			.	ENSP00000361009		CCDS13410.1			1	
TGS1	0	LGGM	GRCh37	8	56711490	56711490	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	4	.	.	ENST00000260129.5:c.1560A>T	p.Thr520=	p.T520=	ENST00000260129	NM_024831.6	520	acA/acT	0	1	1	UPI0000DBEF24	0		ENST00000260129		ENSG00000137574	17843		12			HGNC	p.T520T		TGS1		SNV							ENST00000260129	protein_coding			hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32		T		T		2037/3782							YES	TGS1,synonymous_variant,p.=,ENST00000260129,NM_024831.6;TGS1,3_prime_UTR_variant,,ENST00000523948,;TGS1,non_coding_transcript_exon_variant,,ENST00000519494,;							LOW	1560/2562		TGS1_HUMAN			Transcript			.	ENSP00000260129		CCDS34894.1			1	
XIRP2	0	LGGM	GRCh37	2	167760293	167760293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	46	4	.	.	ENST00000409195.1:c.301C>A	p.Leu101Met	p.L101M	ENST00000409195	NM_152381.5	101	Ctg/Atg	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		50			HGNC	p.L101M	COSM356923,COSM356924	XIRP2		SNV						1,1	ENST00000295237	protein_coding					L/M		A		390/12675				J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Leu101Met,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Leu101Met,ENST00000295237,;XIRP2,missense_variant,p.Leu101Met,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Leu101Met,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Leu101Met,ENST00000409756,;XIRP2,missense_variant,p.Leu101Met,ENST00000420519,;					1,1		MODERATE	301/10650					Transcript		benign(0.259)	.	ENSP00000386840		CCDS42769.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103126204	103126204	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	5	4	.	.	ENST00000398093.3:c.10288T>C	p.Leu3430=	p.L3430=	ENST00000398093		3430	Tta/Cta	0	1		UPI0000418CA2	0		ENST00000375735		ENSG00000187240	2962		9			HGNC	p.L3423L	rs774943092	DYNC2H1		SNV			1				ENST00000375735	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34,Low_complexity_(Seg):seg		L		C		10411/13678								DYNC2H1,synonymous_variant,p.=,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,synonymous_variant,p.=,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;	0.000852						LOW	10267/12924		DYHC2_HUMAN			Transcript			common_variant	ENSP00000364887	8.46E-06	CCDS53701.1			1	
IGLV3-22	0	LGGM	GRCh37	22	23047273	23047273	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	13	5	.	.	ENST00000390307.2:c.311A>G	p.Tyr104Cys	p.Y104C	ENST00000390307		104	tAt/tGt	0	1	1	UPI000173A2CB	0		ENST00000390307		ENSG00000211661	5906		18			HGNC	p.Y104C		IGLV3-22		SNV							ENST00000390307	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF51,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		Y/C		G		375/409			deleterious(0.01)	Q5NV75_HUMAN			YES	IGLV3-22,missense_variant,p.Tyr104Cys,ENST00000390307,;IGLVVI-22-1,downstream_gene_variant,,ENST00000521183,;							MODERATE	311/345					Transcript		probably_damaging(1)	.	ENSP00000374842					1	
NADSYN1	0	LGGM	GRCh37	11	71169483	71169483	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	5	.	.	ENST00000319023.2:c.156A>T	p.Gly52=	p.G52=	ENST00000319023	NM_018161.4	52	ggA/ggT	0	1	1	UPI00001404C2	0		ENST00000319023		ENSG00000172890	29832		42			HGNC	p.G52G		NADSYN1		SNV							ENST00000319023	protein_coding			PROSITE_profiles:PS50263,hmmpanther:PTHR23090:SF9,hmmpanther:PTHR23090,Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF006630,Superfamily_domains:SSF56317		G		T		344/2773				E9PNF5_HUMAN,E9PND0_HUMAN			YES	NADSYN1,synonymous_variant,p.=,ENST00000319023,NM_018161.4;NADSYN1,non_coding_transcript_exon_variant,,ENST00000527538,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000525245,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000533769,;NADSYN1,synonymous_variant,p.=,ENST00000525200,;NADSYN1,synonymous_variant,p.=,ENST00000528509,;NADSYN1,synonymous_variant,p.=,ENST00000529120,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000534634,;NADSYN1,non_coding_transcript_exon_variant,,ENST00000524949,;NADSYN1,downstream_gene_variant,,ENST00000533612,;							LOW	156/2121		NADE_HUMAN			Transcript			.	ENSP00000326424		CCDS8201.1			1	
CACNA1S	0	LGGM	GRCh37	1	201016689	201016689	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	19	5	.	.	ENST00000362061.3:c.4507A>T	p.Met1503Leu	p.M1503L	ENST00000362061	NM_000069.2	1503	Atg/Ttg	0	1	1	UPI000020471D	0	getma.org/pdb.php?prot=CAC1S_HUMAN&from=1381&to=1514&var=M1503L	ENST00000362061		ENSG00000081248	1397		24	1.7		HGNC	p.M1503L		CACNA1S		SNV			1				ENST00000362061	protein_coding	getma.org/?cm=var&var=hg19,1,201016689,T,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190		M/L		A	low	4734/6166		getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=1381&re=1514&var=M1503L	tolerated(0.09)	Q13062_HUMAN,Q12966_HUMAN			YES	CACNA1S,missense_variant,p.Met1503Leu,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Met1484Leu,ENST00000367338,;RP11-168O16.2,downstream_gene_variant,,ENST00000415359,;							MODERATE	4507/5622	M1503L	CAC1S_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000355192		CCDS1407.1			1	
CNTFR	0	LGGM	GRCh37	9	34564807	34564807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	25	6	.	.	ENST00000378980.3:c.109C>T	p.Arg37Cys	p.R37C	ENST00000378980	NM_147164.2	37	Cgc/Tgc	0	1		UPI0000000DBD	0	NA	ENST00000351266		ENSG00000122756	2170		31	1.905		HGNC	p.R37C	rs747782591,COSM3907028,COSM3907027	CNTFR		SNV						0,1,1	ENST00000351266	protein_coding	getma.org/?cm=var&var=hg19,9,34564807,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR23036:SF93,hmmpanther:PTHR23036,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/C		A	medium	261/1910	3.03E-05	getma.org/?cm=msa&ty=f&p=CNTFR_HUMAN&rb=27&re=104&var=R37C	deleterious(0)	Q5T8H6_HUMAN,B3KXJ2_HUMAN				CNTFR,missense_variant,p.Arg37Cys,ENST00000378980,NM_147164.2,NM_001207011.1;CNTFR,missense_variant,p.Arg37Cys,ENST00000351266,NM_001842.4;CNTFR,missense_variant,p.Arg37Cys,ENST00000417345,;CNTFR-AS1,upstream_gene_variant,,ENST00000436360,;CNTFR-AS1,upstream_gene_variant,,ENST00000453642,;CNTFR-AS1,upstream_gene_variant,,ENST00000438244,;CNTFR-AS1,upstream_gene_variant,,ENST00000454187,;					0,1,1		MODERATE	109/1119	R37C	CNTFR_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000242338	1.65E-05	CCDS6558.1			1	
RAB11FIP1	0	LGGM	GRCh37	8	37729321	37729321	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	6	.	.	ENST00000330843.4:c.2999C>G	p.Ser1000Cys	p.S1000C	ENST00000330843	NM_001002814.2	1000	tCc/tGc	0	1	1	UPI0000D624B1	0	NA	ENST00000330843		ENSG00000156675	30265		33	1.245		HGNC	p.S1000C		RAB11FIP1		SNV							ENST00000330843	protein_coding	getma.org/?cm=var&var=hg19,8,37729321,G,C&fts=all		hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF22		S/C		C	low	3012/7811		getma.org/?cm=msa&ty=f&p=RFIP1_HUMAN&rb=981&re=1209&var=S1000C	deleterious_low_confidence(0.04)				YES	RAB11FIP1,missense_variant,p.Ser1000Cys,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,;							MODERATE	2999/3852	S1000C	RFIP1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000331342		CCDS34882.1			1	
EN2	0	LGGM	GRCh37	7	155255284	155255284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	6	.	.	ENST00000297375.4:c.904G>T	p.Ala302Ser	p.A302S	ENST00000297375	NM_001427.3	302	Gcc/Tcc	0	1	1	UPI000012CA05	0	NA	ENST00000297375		ENSG00000164778	3343		14	1.515		HGNC	p.A302S		EN2		SNV							ENST00000297375	protein_coding	getma.org/?cm=var&var=hg19,7,155255284,G,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF10525,PROSITE_profiles:PS50071,hmmpanther:PTHR24341,hmmpanther:PTHR24341:SF5,SMART_domains:SM00389		A/S		T	low	1153/3395		getma.org/?cm=msa&ty=f&p=HME2_HUMAN&rb=302&re=333&var=A302S	tolerated(0.12)				YES	EN2,missense_variant,p.Ala302Ser,ENST00000297375,NM_001427.3;							MODERATE	904/1002	A302S	HME2_HUMAN			Transcript		benign(0.193)	.	ENSP00000297375		CCDS5940.1			1	
PLCG1	0	LGGM	GRCh37	20	39801461	39801461	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	16	6	.	.	ENST00000373272.2:c.3223G>C	p.Asp1075His	p.D1075H	ENST00000373272	NM_002660.2	1075	Gac/Cac	0	1		UPI0000131AA5	0	getma.org/pdb.php?prot=PLCG1_HUMAN&from=1075&to=1177&var=D1075H	ENST00000373271		ENSG00000124181	9065		22	2.55		HGNC	p.D1075H		PLCG1		SNV							ENST00000244007	protein_coding	getma.org/?cm=var&var=hg19,20,39801461,G,C&fts=all		Gene3D:3.20.20.190,PIRSF_domain:PIRSF000952,PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52		D/H		C	medium	3628/5490		getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=1075&re=1177&var=D1075H	tolerated(0.09)					PLCG1,missense_variant,p.Asp1075His,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Asp1075His,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Asp1075His,ENST00000244007,;PLCG1,non_coding_transcript_exon_variant,,ENST00000608689,;PLCG1,upstream_gene_variant,,ENST00000609821,;PLCG1,missense_variant,p.Asp75His,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,;							MODERATE	3223/3873	D1075H	PLCG1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000362368		CCDS13314.1			1	
ATP9B	0	LGGM	GRCh37	18	77137382	77137382	+	stop_retained_variant	Silent	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	11	6	.	.	ENST00000426216.2:c.3443A>G	p.Ter1148=	p.*1148=	ENST00000426216	NM_198531.3	1148	tAa/tGa	0	1	1	UPI00002371AF	0		ENST00000426216		ENSG00000166377	13541		17			HGNC	p.X1137X		ATP9B		SNV							ENST00000307671	protein_coding					*		G		3460/4361							YES	ATP9B,stop_retained_variant,p.=,ENST00000426216,NM_198531.3;ATP9B,stop_retained_variant,p.=,ENST00000307671,;ATP9B,stop_retained_variant,p.=,ENST00000543761,;ATP9B,3_prime_UTR_variant,,ENST00000590477,;ATP9B,3_prime_UTR_variant,,ENST00000588921,;ATP9B,downstream_gene_variant,,ENST00000587410,;ATP9B,downstream_gene_variant,,ENST00000589951,;ATP9B,downstream_gene_variant,,ENST00000587919,;							LOW	3443/3444		ATP9B_HUMAN			Transcript			.	ENSP00000398076		CCDS12014.1			1	
MUC4	0	LGGM	GRCh37	3	195508549	195508549	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	6	.	.	ENST00000463781.3:c.9902A>T	p.Glu3301Val	p.E3301V	ENST00000463781	NM_018406.6	3301	gAg/gTg	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		43	0		HGNC	p.E3301V		MUC4		SNV							ENST00000480843	protein_coding	getma.org/?cm=var&var=hg19,3,195508549,T,A&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		E/V		A	neutral	10362/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=E3301V		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Glu3301Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Glu3301Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Glu3301Val,ENST00000478156,;MUC4,missense_variant,p.Glu3301Val,ENST00000466475,;MUC4,missense_variant,p.Glu3301Val,ENST00000477756,;MUC4,missense_variant,p.Glu3301Val,ENST00000477086,;MUC4,missense_variant,p.Glu3301Val,ENST00000480843,;MUC4,missense_variant,p.Glu3301Val,ENST00000462323,;MUC4,missense_variant,p.Glu3301Val,ENST00000470451,;MUC4,missense_variant,p.Glu3301Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	9902/16239	E3301V				Transcript		benign(0.026)	.	ENSP00000417498		CCDS54700.1			1	
HELZ	0	LGGM	GRCh37	17	65105557	65105557	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	6	.	.	ENST00000358691.5:c.4164T>A	p.Pro1388=	p.P1388=	ENST00000358691	NM_014877.3	1388	ccT/ccA	0	1	1	UPI000013D7F5	0		ENST00000358691		ENSG00000198265	16878		26			HGNC	p.P1389P		HELZ		SNV							ENST00000580168	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887		P		T		4331/13810				J3KT20_HUMAN,J3KS59_HUMAN			YES	HELZ,synonymous_variant,p.=,ENST00000358691,NM_014877.3;HELZ,synonymous_variant,p.=,ENST00000580168,;HELZ,3_prime_UTR_variant,,ENST00000579953,;							LOW	4164/5829		HELZ_HUMAN			Transcript			.	ENSP00000351524		CCDS42374.1			1	
OR4B1	0	LGGM	GRCh37	11	48239047	48239047	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	15	6	.	.	ENST00000309562.2:c.686A>T	p.Glu229Val	p.E229V	ENST00000309562	NM_001005470.1	229	gAg/gTg	0	1	1	UPI0000041BD9	0	NA	ENST00000309562		ENSG00000175619	8290		21	3.075		HGNC	p.E229V		OR4B1		SNV							ENST00000309562	protein_coding	getma.org/?cm=var&var=hg19,11,48239047,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF23,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		E/V		T	medium	704/971		getma.org/?cm=msa&ty=f&p=OR4B1_HUMAN&rb=137&re=278&var=E229V	deleterious(0)				YES	OR4B1,missense_variant,p.Glu229Val,ENST00000309562,NM_001005470.1;							MODERATE	686/930	E229V	OR4B1_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000311605		CCDS31485.1			1	
TPSD1	0	LGGM	GRCh37	16	1308331	1308331	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	18	7	.	.	ENST00000211076.3:c.685-2A>T		p.X229_splice	ENST00000211076	NM_012217.2			0	1	1	UPI000007066B	0		ENST00000211076		ENSG00000095917	14118		25			HGNC	-		TPSD1		SNV							ENST00000397534	protein_coding							T		-/963							YES	TPSD1,splice_acceptor_variant,,ENST00000211076,NM_012217.2;TPSD1,splice_acceptor_variant,,ENST00000397534,;PRSS29P,downstream_gene_variant,,ENST00000568091,;PRSS29P,downstream_gene_variant,,ENST00000440800,;RP11-616M22.5,downstream_gene_variant,,ENST00000566997,;							HIGH	685/729		TRYD_HUMAN			Transcript			.	ENSP00000211076		CCDS10432.1			1	
AQR	0	LGGM	GRCh37	15	35149272	35149272	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	16	7	.	.	ENST00000156471.5:c.4179G>T	p.Glu1393Asp	p.E1393D	ENST00000156471	NM_014691.2	1393	gaG/gaT	0	1	1	UPI00001C1F85	0	NA	ENST00000156471		ENSG00000021776	29513		23	0		HGNC	p.E1393D		AQR		SNV							ENST00000156471	protein_coding	getma.org/?cm=var&var=hg19,15,35149272,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038901		E/D		A	neutral	4405/5945		getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=1309&re=1397&var=E1393D	tolerated(0.24)				YES	AQR,missense_variant,p.Glu1393Asp,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;AQR,non_coding_transcript_exon_variant,,ENST00000559090,;AQR,non_coding_transcript_exon_variant,,ENST00000559767,;							MODERATE	4179/4458	E1393D	AQR_HUMAN			Transcript		benign(0.004)	.	ENSP00000156471		CCDS42013.1			1	
ARHGEF1	0	LGGM	GRCh37	19	42392308	42392308	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	7	.	.	ENST00000337665.4:c.115A>T	p.Ile39Phe	p.I39F	ENST00000337665	NM_199002.1	39	Atc/Ttc	0	1		UPI000006D7E1	0	getma.org/pdb.php?prot=ARHG1_HUMAN&from=1&to=41&var=I24F	ENST00000354532		ENSG00000076928	681		24	1.1		HGNC	p.I24F		ARHGEF1		SNV							ENST00000599846	protein_coding	getma.org/?cm=var&var=hg19,19,42392308,A,T&fts=all		hmmpanther:PTHR22825:SF6,hmmpanther:PTHR22825		I/F		T	low	218/3243		getma.org/?cm=msa&ty=f&p=ARHG1_HUMAN&rb=1&re=41&var=I24F	deleterious(0)					ARHGEF1,missense_variant,p.Ile24Phe,ENST00000599846,;ARHGEF1,missense_variant,p.Ile24Phe,ENST00000354532,NM_004706.3;ARHGEF1,missense_variant,p.Ile39Phe,ENST00000337665,NM_199002.1;ARHGEF1,missense_variant,p.Ile24Phe,ENST00000347545,NM_198977.1;ARHGEF1,missense_variant,p.Ile39Phe,ENST00000378152,;ARHGEF1,intron_variant,,ENST00000596957,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600274,;ARHGEF1,non_coding_transcript_exon_variant,,ENST00000600387,;ARHGEF1,upstream_gene_variant,,ENST00000598812,;							MODERATE	70/2739	I24F	ARHG1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000346532		CCDS12591.1			1	
SMARCA2	0	LGGM	GRCh37	9	2056749	2056749	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	16	7	.	.	ENST00000382203.1:c.1251G>T	p.Arg417=	p.R417=	ENST00000382203		417	cgG/cgT	0	1		UPI00001AE8EB	0		ENST00000349721		ENSG00000080503	11098		23			HGNC	p.R417R		SMARCA2		SNV			1				ENST00000382203	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541		R		T		1350/5757				Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN				SMARCA2,synonymous_variant,p.=,ENST00000382203,;SMARCA2,synonymous_variant,p.=,ENST00000349721,NM_003070.3;SMARCA2,synonymous_variant,p.=,ENST00000357248,NM_139045.2;SMARCA2,synonymous_variant,p.=,ENST00000382194,;SMARCA2,synonymous_variant,p.=,ENST00000450198,;							LOW	1251/4773		SMCA2_HUMAN			Transcript			.	ENSP00000265773		CCDS34977.1			1	
ANLN	0	LGGM	GRCh37	7	36459046	36459046	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	31	7	.	.	ENST00000265748.2:c.1827A>T	p.Leu609Phe	p.L609F	ENST00000265748	NM_018685.2	609	ttA/ttT	0	1	1	UPI00001A95DE	0	NA	ENST00000265748		ENSG00000011426	14082		38	1.905		HGNC	p.L572F		ANLN		SNV			1				ENST00000396068	protein_coding	getma.org/?cm=var&var=hg19,7,36459046,A,T&fts=all		hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20		L/F		T	medium	2048/4787		getma.org/?cm=msa&ty=f&p=ANLN_HUMAN&rb=601&re=798&var=L609F	deleterious(0)	C9JJT6_HUMAN			YES	ANLN,missense_variant,p.Leu609Phe,ENST00000265748,NM_018685.2;ANLN,missense_variant,p.Leu572Phe,ENST00000396068,NM_001284302.1,NM_001284301.1;ANLN,intron_variant,,ENST00000428612,;ANLN,upstream_gene_variant,,ENST00000446635,;ANLN,upstream_gene_variant,,ENST00000457743,;ANLN,downstream_gene_variant,,ENST00000495714,;ANLN,downstream_gene_variant,,ENST00000441696,;ANLN,downstream_gene_variant,,ENST00000452877,;							MODERATE	1827/3375	L609F	ANLN_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000265748		CCDS5447.1			1	
CHD6	0	LGGM	GRCh37	20	40053905	40053905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	7	.	.	ENST00000373233.3:c.4259G>A	p.Gly1420Glu	p.G1420E	ENST00000373233	NM_032221.4	1420	gGa/gAa	0	1	1	UPI0000168656	0	NA	ENST00000373233		ENSG00000124177	19057		24	-0.115		HGNC	p.G1420E		CHD6		SNV							ENST00000373233	protein_coding	getma.org/?cm=var&var=hg19,20,40053905,C,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589		G/E		T	neutral	4437/10818		getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=1298&re=1497&var=G1420E	tolerated(1)				YES	CHD6,missense_variant,p.Gly1420Glu,ENST00000373233,NM_032221.4;CHD6,downstream_gene_variant,,ENST00000440697,;							MODERATE	4259/8148	G1420E	CHD6_HUMAN			Transcript		benign(0.017)	.	ENSP00000362330		CCDS13317.1			1	
OR5AP2	0	LGGM	GRCh37	11	56409058	56409058	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	21	7	.	.	ENST00000302981.1:c.858A>G	p.Val286=	p.V286=	ENST00000302981	NM_001002925.1	286	gtA/gtG	0	1	1	UPI0000061EE6	0		ENST00000302981		ENSG00000172464	15258		28			HGNC	p.V286V		OR5AP2		SNV							ENST00000302981	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V		C		858/951							YES	OR5AP2,synonymous_variant,p.=,ENST00000544374,;OR5AP2,synonymous_variant,p.=,ENST00000302981,NM_001002925.1;AP002517.1,downstream_gene_variant,,ENST00000584225,;							LOW	858/951		O5AP2_HUMAN			Transcript			.	ENSP00000303111		CCDS31534.1			1	
PBX1	0	LGGM	GRCh37	1	164790774	164790774	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	19	7	.	.	ENST00000420696.2:c.1111G>C	p.Val371Leu	p.V371L	ENST00000420696	NM_002585.3	371	Gtg/Ctg	0	1	1	UPI00000213E1	0	NA	ENST00000420696		ENSG00000185630	8632		26	2.42		HGNC	p.V280L		PBX1		SNV			1				ENST00000559240	protein_coding	getma.org/?cm=var&var=hg19,1,164790774,G,C&fts=all		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58		V/L		C	medium	1299/6636		getma.org/?cm=msa&ty=f&p=PBX1_HUMAN&rb=294&re=430&var=G333A	tolerated(0.09)	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN			YES	PBX1,missense_variant,p.Val371Leu,ENST00000420696,NM_002585.3,NM_001204963.1,NM_001204961.1;PBX1,missense_variant,p.Val266Leu,ENST00000560641,;PBX1,missense_variant,p.Gly333Ala,ENST00000367897,;PBX1,missense_variant,p.Val266Leu,ENST00000540246,;PBX1,missense_variant,p.Val371Leu,ENST00000540236,;PBX1,missense_variant,p.Gly333Ala,ENST00000401534,;PBX1,missense_variant,p.Val280Leu,ENST00000559240,;PBX1,splice_region_variant,,ENST00000468104,;PBX1,splice_region_variant,,ENST00000560469,;PBX1,splice_region_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,splice_region_variant,,ENST00000465089,;							MODERATE	1111/1293	G333A	PBX1_HUMAN			Transcript		benign(0.175)	.	ENSP00000405890		CCDS1246.1			1	
GTF3C1	0	LGGM	GRCh37	16	27561207	27561207	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	7	.	.	ENST00000356183.4:c.5A>G	p.Asp2Gly	p.D2G	ENST00000356183	NM_001520.3	2	gAc/gGc	0	1	1	UPI00001FF123	0	NA	ENST00000356183		ENSG00000077235	4664		15	1.5		HGNC	p.D2G		GTF3C1		SNV							ENST00000356183	protein_coding	getma.org/?cm=var&var=hg19,16,27561207,T,C&fts=all		hmmpanther:PTHR15180		D/G		C	low	21/7018		getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=1&re=173&var=D2G	deleterious(0)	Q7Z7H4_HUMAN,I3L1Z3_HUMAN			YES	GTF3C1,missense_variant,p.Asp2Gly,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Asp2Gly,ENST00000561623,NM_001286242.1;KIAA0556,upstream_gene_variant,,ENST00000261588,NM_015202.2;KIAA0556,upstream_gene_variant,,ENST00000566023,;							MODERATE	May-30	D2G	TF3C1_HUMAN			Transcript		benign(0.26)	.	ENSP00000348510		CCDS32414.1			1	
NKX2-2	0	LGGM	GRCh37	20	21492998	21492998	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	9	7	.	.	ENST00000377142.4:c.385C>T	p.Arg129Ter	p.R129*	ENST00000377142	NM_002509.3	129	Cga/Tga	0	1	1	UPI00001301E6	0	NA	ENST00000377142		ENSG00000125820	7835		16	0		HGNC	p.R129X		NKX2-2		SNV							ENST00000377142	protein_coding	getma.org/?cm=var&var=hg19,20,21492998,G,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50071,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689		R/*		A	NA	742/2092		NA					YES	NKX2-2,stop_gained,p.Arg129Ter,ENST00000377142,NM_002509.3;NKX2-2-AS1,downstream_gene_variant,,ENST00000549659,;							HIGH	385/822	R129*	NKX22_HUMAN			Transcript			.	ENSP00000366347		CCDS13145.1			1	
MUC4	0	LGGM	GRCh37	3	195506003	195506003	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	82	7	.	.	ENST00000463781.3:c.12448C>A	p.Pro4150Thr	p.P4150T	ENST00000463781	NM_018406.6	4150	Cct/Act	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		89	0		HGNC	p.P4150T		MUC4		SNV							ENST00000480843	protein_coding	getma.org/?cm=var&var=hg19,3,195506003,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		P/T		T	neutral	12908/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=P4150T		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Pro4150Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro4150Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro4150Thr,ENST00000478156,;MUC4,missense_variant,p.Pro4150Thr,ENST00000466475,;MUC4,missense_variant,p.Pro4150Thr,ENST00000477756,;MUC4,missense_variant,p.Pro4150Thr,ENST00000477086,;MUC4,missense_variant,p.Pro4150Thr,ENST00000480843,;MUC4,missense_variant,p.Pro4150Thr,ENST00000462323,;MUC4,missense_variant,p.Pro4150Thr,ENST00000470451,;MUC4,missense_variant,p.Pro4150Thr,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	12448/16239	P4150T				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
SRPK1	0	LGGM	GRCh37	6	35838731	35838731	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	25	7	.	.	ENST00000373825.2:c.757A>T	p.Thr253Ser	p.T253S	ENST00000373825		253	Act/Tct	0	1	1	UPI000020DBDD	0	NA	ENST00000373825		ENSG00000096063	11305		32	1.345		HGNC	p.T146S		SRPK1		SNV							ENST00000373822	protein_coding	getma.org/?cm=var&var=hg19,6,35838731,T,A&fts=all		Low_complexity_(Seg):seg,SMART_domains:SM00220,Gene3D:1.10.510.10,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF101,PROSITE_profiles:PS50011		T/S		A	low	1043/4592		getma.org/?cm=msa&ty=f&p=SRPK1_HUMAN&rb=80&re=653&var=T253S	deleterious(0.05)	D6RBF8_HUMAN			YES	SRPK1,missense_variant,p.Thr253Ser,ENST00000373825,;SRPK1,missense_variant,p.Thr146Ser,ENST00000373822,;SRPK1,missense_variant,p.Thr237Ser,ENST00000423325,NM_003137.4;SRPK1,missense_variant,p.Thr269Ser,ENST00000361690,;SRPK1,5_prime_UTR_variant,,ENST00000510290,;SRPK1,downstream_gene_variant,,ENST00000373821,;SRPK1,non_coding_transcript_exon_variant,,ENST00000346162,;SRPK1,non_coding_transcript_exon_variant,,ENST00000502969,;SRPK1,upstream_gene_variant,,ENST00000507292,;							MODERATE	757/1968	T253S	SRPK1_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000362931		CCDS47415.1			1	
KIF20B	0	LGGM	GRCh37	10	91476209	91476209	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	6	7	.	.	ENST00000260753.4:c.957A>T	p.Gln319His	p.Q319H	ENST00000260753	NM_016195.2	319	caA/caT	0	1		UPI000013D104	0	getma.org/pdb.php?prot=KI20B_HUMAN&from=64&to=479&var=Q319H	ENST00000371728		ENSG00000138182	7212		13	1.175		HGNC	p.Q319H		KIF20B		SNV							ENST00000416354	protein_coding	getma.org/?cm=var&var=hg19,10,91476209,A,T&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR23165,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540		Q/H		T	low	1022/6419		getma.org/?cm=msa&ty=f&p=KI20B_HUMAN&rb=64&re=479&var=Q319H	tolerated(0.07)					KIF20B,missense_variant,p.Gln319His,ENST00000416354,;KIF20B,missense_variant,p.Gln319His,ENST00000371728,NM_001284259.1;KIF20B,missense_variant,p.Gln319His,ENST00000260753,NM_016195.2;KIF20B,missense_variant,p.Gln319His,ENST00000394289,;							MODERATE	957/5463	Q319H	KI20B_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000360793		CCDS60590.1			1	
C6orf132	0	LGGM	GRCh37	6	42077975	42077975	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	10	7	.	.	ENST00000341865.4:c.307T>C	p.Phe103Leu	p.F103L	ENST00000341865	NM_001164446.1	103	Ttt/Ctt	0	1	1	UPI0001A5E4A3	0	NA	ENST00000341865		ENSG00000188112	21288		17	0.695		HGNC	p.F103L		C6orf132		SNV							ENST00000341865	protein_coding	getma.org/?cm=var&var=hg19,6,42077975,A,G&fts=all				F/L		G	neutral	307/6210		getma.org/?cm=msa&ty=f&p=CF132_HUMAN&rb=1&re=1186&var=F103L					YES	C6orf132,missense_variant,p.Phe103Leu,ENST00000341865,NM_001164446.1;							MODERATE	307/3567	F103L	CF132_HUMAN			Transcript		unknown(0)	.	ENSP00000341368		CCDS47428.1			1	
DCAF5	0	LGGM	GRCh37	14	69520987	69520987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	6	7	.	.	ENST00000341516.5:c.2416A>G	p.Asn806Asp	p.N806D	ENST00000341516	NM_003861.2	806	Aac/Gac	0	1	1	UPI00001C1F66	0	NA	ENST00000341516		ENSG00000139990	20224		13	0.345		HGNC	p.N724D		DCAF5		SNV							ENST00000554215	protein_coding	getma.org/?cm=var&var=hg19,14,69520987,T,C&fts=all				N/D		C	neutral	2564/5953		getma.org/?cm=msa&ty=f&p=DCAF5_HUMAN&rb=410&re=940&var=N806D	tolerated_low_confidence(0.59)	Q8NCX5_HUMAN			YES	DCAF5,missense_variant,p.Asn806Asp,ENST00000341516,NM_003861.2,NM_001284207.1;DCAF5,missense_variant,p.Asn724Asp,ENST00000554215,;DCAF5,missense_variant,p.Asn805Asp,ENST00000557386,NM_001284206.1;DCAF5,missense_variant,p.Asn724Asp,ENST00000556847,;DCAF5,downstream_gene_variant,,ENST00000553293,;							MODERATE	2416/2829	N806D	DCAF5_HUMAN			Transcript		benign(0.014)	.	ENSP00000341351		CCDS32106.1			1	
DLGAP3	0	LGGM	GRCh37	1	35370263	35370263	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	24	7	.	.	ENST00000373347.1:c.722G>C	p.Arg241Thr	p.R241T	ENST00000373347		241	aGg/aCg	0	1		UPI00003D4D81	0	NA	ENST00000235180		ENSG00000116544	30368		31	2.41		HGNC	p.R241T		DLGAP3		SNV							ENST00000235180	protein_coding	getma.org/?cm=var&var=hg19,1,35370263,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4		R/T		G	medium	722/3587		getma.org/?cm=msa&ty=f&p=DLGP3_HUMAN&rb=201&re=400&var=R241T	deleterious(0)	B4DH33_HUMAN				DLGAP3,missense_variant,p.Arg241Thr,ENST00000373347,;DLGAP3,missense_variant,p.Arg241Thr,ENST00000235180,NM_001080418.1;DLGAP3,downstream_gene_variant,,ENST00000495979,;							MODERATE	722/2940	R241T	DLGP3_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000235180		CCDS30670.1			1	
EMILIN1	0	LGGM	GRCh37	2	27302028	27302028	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	3	7	.	.	ENST00000380320.4:c.95A>T	p.Tyr32Phe	p.Y32F	ENST00000380320	NM_007046.3	32	tAc/tTc	0	1	1	UPI000013D0F3	0	NA	ENST00000380320		ENSG00000138080	19880		10	0.895		HGNC	p.Y32F		EMILIN1		SNV							ENST00000380320	protein_coding	getma.org/?cm=var&var=hg19,2,27302028,A,T&fts=all		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF1		Y/F		T	low	594/3938		getma.org/?cm=msa&ty=f&p=EMIL1_HUMAN&rb=1&re=55&var=Y32F					YES	EMILIN1,missense_variant,p.Tyr32Phe,ENST00000380320,NM_007046.3;EMILIN1,upstream_gene_variant,,ENST00000433140,;							MODERATE	95/3051	Y32F	EMIL1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000369677		CCDS1733.1			1	
TG	0	LGGM	GRCh37	8	133900359	133900359	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	12	7	.	.	ENST00000220616.4:c.2307G>T	p.Trp769Cys	p.W769C	ENST00000220616	NM_003235.4	769	tgG/tgT	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		19	2.36		HGNC	p.W769C		TG		SNV			1				ENST00000220616	protein_coding	getma.org/?cm=var&var=hg19,8,133900359,G,T&fts=all		Gene3D:4.10.800.10,PIRSF_domain:PIRSF001831,PROSITE_profiles:PS51162,Superfamily_domains:SSF57610		W/C		T	medium	2347/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=727&re=921&var=W769C	deleterious(0)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Trp769Cys,ENST00000220616,NM_003235.4;TG,missense_variant,p.Trp769Cys,ENST00000377869,;TG,downstream_gene_variant,,ENST00000520769,;							MODERATE	2307/8307	W769C	THYG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000220616		CCDS34944.1			1	
SLITRK1	0	LGGM	GRCh37	13	84454843	84454843	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	7	.	.	ENST00000377084.2:c.800T>A	p.Val267Glu	p.V267E	ENST00000377084	NM_052910.2	267	gTg/gAg	0	1	1	UPI0000035971	0	getma.org/pdb.php?prot=SLIK1_HUMAN&from=190&to=389&var=V267E	ENST00000377084		ENSG00000178235	20297		15	0.46		HGNC	p.V267E		SLITRK1		SNV			1				ENST00000377084	protein_coding	getma.org/?cm=var&var=hg19,13,84454843,A,T&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33		V/E		T	neutral	1686/5185		getma.org/?cm=msa&ty=f&p=SLIK1_HUMAN&rb=190&re=389&var=V267E	tolerated(0.36)				YES	SLITRK1,missense_variant,p.Val267Glu,ENST00000377084,NM_052910.2,NM_001281503.1;							MODERATE	800/2091	V267E	SLIK1_HUMAN			Transcript		benign(0.007)	.	ENSP00000366288		CCDS9464.1			1	
SPTBN5	0	LGGM	GRCh37	15	42170783	42170783	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	11	8	.	.	ENST00000320955.6:c.3227A>T	p.Gln1076Leu	p.Q1076L	ENST00000320955	NM_016642.3	1076	cAg/cTg	0	1	1	UPI0000E59BE4	0	NA	ENST00000320955		ENSG00000137877	15680		19	1.59		HGNC	p.Q1076L		SPTBN5		SNV							ENST00000320955	protein_coding	getma.org/?cm=var&var=hg19,15,42170783,T,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,SMART_domains:SM00150,Superfamily_domains:SSF46966		Q/L		A	low	3455/11722		getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=999&re=1101&var=Q1076L					YES	SPTBN5,missense_variant,p.Gln1076Leu,ENST00000320955,NM_016642.3;							MODERATE	3227/11025	Q1076L	SPTN5_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000317790		CCDS61599.1			1	
CPT1A	0	LGGM	GRCh37	11	68552441	68552441	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	6	8	.	.	ENST00000265641.5:c.1005C>A	p.Val335=	p.V335=	ENST00000265641	NM_001876.3	335	gtC/gtA	0	1	1	UPI000013D658	0		ENST00000265641		ENSG00000110090	2328		14			HGNC	p.V335V		CPT1A		SNV			1				ENST00000265641	protein_coding			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF49,Pfam_domain:PF00755,Superfamily_domains:SSF52777		V		T		1160/5232				Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN			YES	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,downstream_gene_variant,,ENST00000538994,;							LOW	1005/2322		CPT1A_HUMAN			Transcript			.	ENSP00000265641		CCDS8185.1			1	
AQR	0	LGGM	GRCh37	15	35149271	35149271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	8	.	.	ENST00000156471.5:c.4180G>T	p.Gly1394Cys	p.G1394C	ENST00000156471	NM_014691.2	1394	Ggt/Tgt	0	1	1	UPI00001C1F85	0	NA	ENST00000156471		ENSG00000021776	29513		25	0		HGNC	p.G1394C		AQR		SNV							ENST00000156471	protein_coding	getma.org/?cm=var&var=hg19,15,35149271,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038901		G/C		A	neutral	4406/5945		getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=1309&re=1397&var=G1394C	tolerated(0.05)				YES	AQR,missense_variant,p.Gly1394Cys,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;AQR,non_coding_transcript_exon_variant,,ENST00000559090,;AQR,non_coding_transcript_exon_variant,,ENST00000559767,;							MODERATE	4180/4458	G1394C	AQR_HUMAN			Transcript		benign(0.077)	.	ENSP00000156471		CCDS42013.1			1	
EYS	0	LGGM	GRCh37	6	66112441	66112441	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	29	8	.	.	ENST00000503581.1:c.1114A>T	p.Thr372Ser	p.T372S	ENST00000503581	NM_001142800.1	372	Aca/Tca	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		37	-0.03		HGNC	p.T372S		EYS		SNV			1				ENST00000370618	protein_coding	getma.org/?cm=var&var=hg19,6,66112441,T,A&fts=all		Gene3D:2.10.25.10,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65,PROSITE_profiles:PS50026		T/S		A	neutral	1114/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=370&re=406&var=T372S	tolerated(0.81)					EYS,missense_variant,p.Thr372Ser,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Thr372Ser,ENST00000370621,;EYS,missense_variant,p.Thr372Ser,ENST00000370616,;EYS,missense_variant,p.Thr372Ser,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Thr372Ser,ENST00000370618,;EYS,missense_variant,p.Thr372Ser,ENST00000342421,NM_198283.1;							MODERATE	1114/9498	T372S	EYS_HUMAN			Transcript		possibly_damaging(0.636)	.	ENSP00000359650					1	
DNAH5	0	LGGM	GRCh37	5	13845086	13845086	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	8	.	.	ENST00000265104.4:c.5131C>T	p.Arg1711Ter	p.R1711*	ENST00000265104	NM_001369.2	1711	Cga/Tga	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		28	0		HGNC	p.R1711X	rs760869074,COSM4169683	DNAH5		SNV			1			0,1	ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13845086,G,A&fts=all		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		R/*		A	NA	5236/15633	1.50E-05	NA		O95496_HUMAN			YES	DNAH5,stop_gained,p.Arg1711Ter,ENST00000265104,NM_001369.2;					0,1		HIGH	5131/13875	R1711*	DYH5_HUMAN			Transcript			.	ENSP00000265104	8.24E-06	CCDS3882.1			1	
TUBGCP6	0	LGGM	GRCh37	22	50682479	50682479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	26	9	.	.	ENST00000248846.5:c.410A>T	p.Lys137Met	p.K137M	ENST00000248846		137	aAg/aTg	0	1	1	UPI000013CC55	0	NA	ENST00000248846		ENSG00000128159	18127		35	0.805		HGNC	p.K137M		TUBGCP6		SNV			1				ENST00000248846	protein_coding	getma.org/?cm=var&var=hg19,22,50682479,T,A&fts=all		hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32		K/M		A	low	515/5612		getma.org/?cm=msa&ty=f&p=GCP6_HUMAN&rb=1&re=200&var=K137M	deleterious(0)				YES	TUBGCP6,missense_variant,p.Lys137Met,ENST00000439308,NM_020461.3;TUBGCP6,missense_variant,p.Lys137Met,ENST00000248846,;HDAC10,downstream_gene_variant,,ENST00000216271,NM_032019.5,NM_001159286.1;HDAC10,downstream_gene_variant,,ENST00000448072,;HDAC10,downstream_gene_variant,,ENST00000349505,;TUBGCP6,upstream_gene_variant,,ENST00000434349,;MAPK12,downstream_gene_variant,,ENST00000497036,;HDAC10,downstream_gene_variant,,ENST00000498366,;HDAC10,downstream_gene_variant,,ENST00000483222,;HDAC10,downstream_gene_variant,,ENST00000496909,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;HDAC10,downstream_gene_variant,,ENST00000415993,;HDAC10,downstream_gene_variant,,ENST00000454936,;HDAC10,downstream_gene_variant,,ENST00000477814,;HDAC10,downstream_gene_variant,,ENST00000429374,;HDAC10,downstream_gene_variant,,ENST00000475965,;HDAC10,downstream_gene_variant,,ENST00000470378,;HDAC10,downstream_gene_variant,,ENST00000497952,;HDAC10,downstream_gene_variant,,ENST00000471375,;HDAC10,downstream_gene_variant,,ENST00000496235,;HDAC10,downstream_gene_variant,,ENST00000476310,;							MODERATE	410/5460	K137M	GCP6_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000248846		CCDS14087.1			1	
KRT9	0	LGGM	GRCh37	17	39724466	39724466	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	9	.	.	ENST00000246662.4:c.1342G>T	p.Glu448Ter	p.E448*	ENST00000246662	NM_000226.3	448	Gag/Tag	0	1	1	UPI00001AE6F7	0	NA	ENST00000246662		ENSG00000171403	6447		26	0		HGNC	p.E215X		KRT9		SNV			1				ENST00000588431	protein_coding	getma.org/?cm=var&var=hg19,17,39724466,C,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593		E/*		A	NA	1408/2287		NA		K7EQQ3_HUMAN			YES	KRT9,stop_gained,p.Glu448Ter,ENST00000246662,NM_000226.3;KRT9,stop_gained,p.Glu215Ter,ENST00000588431,;							HIGH	1342/1872	E448*	K1C9_HUMAN			Transcript			.	ENSP00000246662		CCDS32654.1			1	
LDHAL6B	0	LGGM	GRCh37	15	59499219	59499219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	23	9	.	.	ENST00000307144.4:c.80C>A	p.Ala27Asp	p.A27D	ENST00000307144	NM_033195.2	27	gCc/gAc	0	1	1	UPI000012E326	0	NA	ENST00000307144		ENSG00000171989	21481		32	0.805		HGNC	p.A27D		LDHAL6B		SNV							ENST00000307144	protein_coding	getma.org/?cm=var&var=hg19,15,59499219,C,A&fts=all				A/D		A	low	178/1664		getma.org/?cm=msa&ty=f&p=LDH6B_HUMAN&rb=1&re=69&var=A27D	deleterious_low_confidence(0)				YES	LDHAL6B,missense_variant,p.Ala27Asp,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,;							MODERATE	80/1146	A27D	LDH6B_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000302393		CCDS10171.1			1	
PCDH20	0	LGGM	GRCh37	13	61986334	61986334	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	11	9	.	.	ENST00000409186.1:c.1898A>T	p.Asn633Ile	p.N633I	ENST00000409186		633	aAt/aTt	0	1	1	UPI000007371F	0	getma.org/pdb.php?prot=PCD20_HUMAN&from=509&to=612&var=N606I	ENST00000409186		ENSG00000197991	14257		20	4.36		HGNC	p.N633I		PCDH20		SNV							ENST00000409204	protein_coding	getma.org/?cm=var&var=hg19,13,61986334,T,A&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,SMART_domains:SM00112,Superfamily_domains:SSF49313		N/I		A	high	4004/6347		getma.org/?cm=msa&ty=f&p=PCD20_HUMAN&rb=509&re=612&var=N606I	deleterious(0)	B3KSZ7_HUMAN			YES	PCDH20,missense_variant,p.Asn633Ile,ENST00000409186,;PCDH20,missense_variant,p.Asn633Ile,ENST00000409204,NM_022843.3;							MODERATE	1898/2856	N606I	PCD20_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386653		CCDS9442.2			1	
OR51E2	0	LGGM	GRCh37	11	4703047	4703047	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	9	.	.	ENST00000396950.3:c.895A>T	p.Arg299Ter	p.R299*	ENST00000396950	NM_030774.3	299	Aga/Tga	0	1	1	UPI000003B49B	0	NA	ENST00000396950		ENSG00000167332	15195		29	0		HGNC	p.R299X		OR51E2		SNV							ENST00000396950	protein_coding	getma.org/?cm=var&var=hg19,11,4703047,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF99,Superfamily_domains:SSF81321		R/*		A	NA	1135/2781		NA		E9PPJ8_HUMAN			YES	OR51E2,stop_gained,p.Arg299Ter,ENST00000396950,NM_030774.3;OR51E2,downstream_gene_variant,,ENST00000532598,;							HIGH	895/963	R299*	O51E2_HUMAN			Transcript			.	ENSP00000380153		CCDS7751.1			1	
ODF2L	0	LGGM	GRCh37	1	86834370	86834370	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	19	9	.	.	ENST00000359242.3:c.1092T>A	p.Asn364Lys	p.N364K	ENST00000359242	NM_001007022.2	364	aaT/aaA	0	1		UPI0000D61F52	0	NA	ENST00000317336		ENSG00000122417	29225		28	0		HGNC	p.N364K		ODF2L		SNV							ENST00000359242	protein_coding	getma.org/?cm=var&var=hg19,1,86834370,A,T&fts=all		hmmpanther:PTHR23162:SF7,hmmpanther:PTHR23162		N/K		T	neutral	1439/2381		getma.org/?cm=msa&ty=f&p=ODF2L_HUMAN&rb=278&re=538&var=N364K	tolerated_low_confidence(0.32)	G5E956_HUMAN,B5ME44_HUMAN				ODF2L,missense_variant,p.Asn364Lys,ENST00000359242,NM_001007022.2;ODF2L,missense_variant,p.Asn364Lys,ENST00000317336,NM_001184765.1;ODF2L,intron_variant,,ENST00000294678,NM_020729.2;ODF2L,intron_variant,,ENST00000370567,;ODF2L,intron_variant,,ENST00000394731,;ODF2L,intron_variant,,ENST00000370566,NM_001184766.1;ODF2L,intron_variant,,ENST00000460698,;ODF2L,intron_variant,,ENST00000479890,;ODF2L,intron_variant,,ENST00000524695,;ODF2L,intron_variant,,ENST00000488879,;ODF2L,intron_variant,,ENST00000496592,;ODF2L,intron_variant,,ENST00000534092,;ODF2L,intron_variant,,ENST00000486557,;ODF2L,downstream_gene_variant,,ENST00000472368,;							MODERATE	1092/2022	N364K				Transcript		benign(0.005)	.	ENSP00000320165					1	
ADAMTSL1	0	LGGM	GRCh37	9	18829965	18829965	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	9	.	.	ENST00000380548.4:c.4239T>A	p.Ser1413=	p.S1413=	ENST00000380548	NM_001040272.5	1413	tcT/tcA	0	1	1	UPI000004FD83	0		ENST00000380548		ENSG00000178031	14632		29			HGNC	p.S1413S		ADAMTSL1		SNV							ENST00000380548	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		S		A		4578/8030				H7BYE3_HUMAN			YES	ADAMTSL1,synonymous_variant,p.=,ENST00000380548,NM_001040272.5;ADAMTSL1,synonymous_variant,p.=,ENST00000380545,;ADAMTSL1,synonymous_variant,p.=,ENST00000380538,;AL158150.1,downstream_gene_variant,,ENST00000411279,;ADAMTSL1,synonymous_variant,p.=,ENST00000542621,;ADAMTSL1,synonymous_variant,p.=,ENST00000388710,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;							LOW	4239/5289		ATL1_HUMAN			Transcript			.	ENSP00000369921		CCDS47954.1			1	
NWD1	0	LGGM	GRCh37	19	16918891	16918891	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	10	.	.	ENST00000524140.2:c.4231C>G	p.Leu1411Val	p.L1411V	ENST00000524140	NM_001007525.3	1411	Ctg/Gtg	0	1		UPI0001AE63B7	0	NA	ENST00000552788		ENSG00000188039	27619		37	0.55		HGNC	p.L1369V		NWD1		SNV							ENST00000549814	protein_coding	getma.org/?cm=var&var=hg19,19,16918891,C,G&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273,SMART_domains:SM00320,Superfamily_domains:SSF50998		L/V		G	neutral	4231/6964		getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=1382&re=1416&var=L1411V	tolerated(0.44)	E9PBV1_HUMAN				NWD1,missense_variant,p.Leu1411Val,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Leu1411Val,ENST00000552788,;NWD1,missense_variant,p.Leu1369Val,ENST00000549814,;NWD1,missense_variant,p.Leu1205Val,ENST00000523826,;NWD1,missense_variant,p.Leu1411Val,ENST00000379808,;NWD1,missense_variant,p.Leu1276Val,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							MODERATE	4231/4695	L1411V	NWD1_HUMAN			Transcript		benign(0.207)	.	ENSP00000447224					1	
DACT1	0	LGGM	GRCh37	14	59112318	59112318	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	10	.	.	ENST00000335867.4:c.977T>A	p.Leu326Gln	p.L326Q	ENST00000335867		326	cTg/cAg	0	1	1	UPI000013E4D3	0	NA	ENST00000335867		ENSG00000165617	17748		27	1.61		HGNC	p.L45Q		DACT1		SNV			1				ENST00000421793	protein_coding	getma.org/?cm=var&var=hg19,14,59112318,T,A&fts=all		Pfam_domain:PF15268,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF12,Low_complexity_(Seg):seg		L/Q		A	low	1001/2571		getma.org/?cm=msa&ty=f&p=DACT1_HUMAN&rb=1&re=834&var=L326Q	deleterious(0.04)	Q5DM88_HUMAN,C9JGV7_HUMAN,B7Z673_HUMAN			YES	DACT1,missense_variant,p.Leu289Gln,ENST00000395153,NM_016651.5,NM_001079520.1;DACT1,missense_variant,p.Leu45Gln,ENST00000541264,;DACT1,missense_variant,p.Leu326Gln,ENST00000335867,;DACT1,missense_variant,p.Leu45Gln,ENST00000556859,;DACT1,missense_variant,p.Leu45Gln,ENST00000421793,;DACT1,downstream_gene_variant,,ENST00000555845,;							MODERATE	977/2511	L326Q	DACT1_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000337439		CCDS9736.1			1	
ANKRD18B	0	LGGM	GRCh37	9	33543226	33543226	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	21	10	.	.	ENST00000290943.6:c.936T>A	p.Leu312=	p.L312=	ENST00000290943	NM_001244752.1	312	ctT/ctA	0	1	1	UPI0000EE047B	0		ENST00000290943		ENSG00000230453	23644		31			HGNC	p.L312L		ANKRD18B		SNV							ENST00000290943	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF22,hmmpanther:PTHR24147		L		A		1032/3773							YES	ANKRD18B,synonymous_variant,p.=,ENST00000290943,NM_001244752.1;ANKRD18B,synonymous_variant,p.=,ENST00000605687,;ANKRD18B,downstream_gene_variant,,ENST00000484634,;ANKRD18B,downstream_gene_variant,,ENST00000474881,;							LOW	936/3036		AN18B_HUMAN			Transcript			.	ENSP00000290943					1	
CNOT10	0	LGGM	GRCh37	3	32757719	32757719	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	26	10	.	.	ENST00000454516.2:c.756T>A	p.Thr252=	p.T252=	ENST00000454516	NM_001256742.1	252	acT/acA	0	1		UPI000006DA16	0		ENST00000328834		ENSG00000182973	23817		36			HGNC	p.W43R		CNOT10		SNV							ENST00000455381	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979		T		A		892/2815				B7Z5B3_HUMAN				CNOT10,splice_region_variant,p.=,ENST00000328834,NM_015442.2;CNOT10,splice_region_variant,p.=,ENST00000454516,NM_001256742.1;CNOT10,splice_region_variant,p.=,ENST00000331889,NM_001256741.1;CNOT10,splice_region_variant,,ENST00000538368,;CNOT10,splice_region_variant,,ENST00000463697,;CNOT10,splice_region_variant,,ENST00000556853,;CNOT10,splice_region_variant,,ENST00000494439,;CNOT10,missense_variant,p.Trp43Arg,ENST00000455381,;CNOT10,splice_region_variant,p.=,ENST00000435630,;CNOT10,splice_region_variant,p.=,ENST00000416457,;CNOT10,downstream_gene_variant,,ENST00000485136,;							LOW	576/2235		CNO10_HUMAN			Transcript			.	ENSP00000330060		CCDS2655.1			1	
AATK	0	LGGM	GRCh37	17	79098598	79098598	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	5	10	.	.	ENST00000326724.4:c.891C>A	p.Ile297=	p.I297=	ENST00000326724	NM_001080395.2	297	atC/atA	0	1	1	UPI000041EA63	0		ENST00000326724		ENSG00000181409	21		15			HGNC	p.I297I	rs201967147	AATK	6.38E-05	SNV	A:0						ENST00000374792	protein_coding		A:0	PROSITE_profiles:PS50011,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112		I	A:0.0004	T		916/5257				H7C175_HUMAN	A:0	A:0	YES	AATK,synonymous_variant,p.=,ENST00000326724,NM_001080395.2;AATK,synonymous_variant,p.=,ENST00000417379,NM_004920.2;AATK,downstream_gene_variant,,ENST00000575363,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR338,upstream_gene_variant,,ENST00000390137,;AATK,non_coding_transcript_exon_variant,,ENST00000573441,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,synonymous_variant,p.=,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;AATK,downstream_gene_variant,,ENST00000576053,;		A:0.0002					LOW	891/4125		LMTK1_HUMAN		A:0.001	Transcript			.	ENSP00000324196	8.26E-06	CCDS45807.1		A:0	1	
DNMT3A	0	LGGM	GRCh37	2	25462073	25462073	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	3	10	.	.	ENST00000264709.3:c.2334G>C	p.Val778=	p.V778=	ENST00000264709	NM_175629.2	778	gtG/gtC	0	1	1	UPI000000DA70	0		ENST00000264709		ENSG00000119772	2978		13			HGNC	p.V589V		DNMT3A		SNV			1				ENST00000380746	protein_coding			PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Superfamily_domains:SSF53335		V		G		2672/4380				Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,synonymous_variant,p.=,ENST00000264709,NM_175629.2;DNMT3A,synonymous_variant,p.=,ENST00000321117,NM_022552.4;DNMT3A,synonymous_variant,p.=,ENST00000380746,NM_153759.3;DNMT3A,synonymous_variant,p.=,ENST00000402667,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000474887,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000461228,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000482935,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000491288,;DNMT3A,3_prime_UTR_variant,,ENST00000380756,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000466601,;							LOW	2334/2739		DNM3A_HUMAN			Transcript			.	ENSP00000264709		CCDS33157.1			1	
ABCA5	0	LGGM	GRCh37	17	67282409	67282409	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	17	11	.	.	ENST00000392676.3:c.2085T>G	p.Gly695=	p.G695=	ENST00000392676		695	ggT/ggG	0	1	1	UPI000013DD9E	0		ENST00000392676		ENSG00000154265	35		28			HGNC	p.G695G		ABCA5		SNV			1				ENST00000588877	protein_coding			PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		G		C		2150/8220				K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN			YES	ABCA5,synonymous_variant,p.=,ENST00000392676,;ABCA5,synonymous_variant,p.=,ENST00000392677,NM_172232.2;ABCA5,synonymous_variant,p.=,ENST00000588877,NM_018672.3;ABCA5,synonymous_variant,p.=,ENST00000593153,;ABCA5,synonymous_variant,p.=,ENST00000586995,;ABCA5,upstream_gene_variant,,ENST00000591234,;							LOW	2085/4929		ABCA5_HUMAN			Transcript			.	ENSP00000376443		CCDS11685.1			1	
PLCXD3	0	LGGM	GRCh37	5	41381957	41381957	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	11	.	.	ENST00000377801.3:c.783A>G	p.Ala261=	p.A261=	ENST00000377801		261	gcA/gcG	0	1		UPI0000049DBB	0		ENST00000328457		ENSG00000182836	31822		38			HGNC	p.A261A		PLCXD3		SNV							ENST00000377801	protein_coding			Superfamily_domains:SSF51695,Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33		A		C		885/7538				B3KXD1_HUMAN				PLCXD3,synonymous_variant,p.=,ENST00000377801,;PLCXD3,synonymous_variant,p.=,ENST00000328457,NM_001005473.2;							LOW	783/966		PLCX3_HUMAN			Transcript			.	ENSP00000333751		CCDS34150.1			1	
T	0	LGGM	GRCh37	6	166574437	166574438	+	frameshift_variant	Frame_Shift_Del	DEL	GT	GT	-	novel	by Submitter	H061095	H061095N.bam	GT	GT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	33	11	.	.	ENST00000296946.2:c.921_922del	p.Pro308CysfsTer10	p.P308Cfs*10	ENST00000296946	NM_003181.3	307	tcACct/tcct	0	1	1	UPI0000126AB5	0		ENST00000296946		ENSG00000164458	11515		44			HGNC	p.307_308del		T		deletion			1				ENST00000296946	protein_coding			hmmpanther:PTHR11267:SF83,hmmpanther:PTHR11267		SP/SX		-		1390-1391/2436				H0YM91_HUMAN			YES	T,frameshift_variant,p.Pro308CysfsTer10,ENST00000296946,NM_003181.3;T,frameshift_variant,p.Pro250CysfsTer10,ENST00000366871,NM_001270484.1;T,frameshift_variant,p.Pro309CysfsTer10,ENST00000366876,;T,downstream_gene_variant,,ENST00000461348,;							HIGH	921-922/1308		BRAC_HUMAN			Transcript			.	ENSP00000296946		CCDS5290.1			1	
CDC20B	0	LGGM	GRCh37	5	54439414	54439414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	28	11	.	.	ENST00000381375.2:c.413C>A	p.Ser138Tyr	p.S138Y	ENST00000381375		138	tCt/tAt	0	1	1	UPI0000D61625	0	NA	ENST00000381375		ENSG00000164287	24222		39	1.935		HGNC	p.S138Y		CDC20B		SNV							ENST00000513180	protein_coding	getma.org/?cm=var&var=hg19,5,54439414,G,T&fts=all		hmmpanther:PTHR19918:SF4,hmmpanther:PTHR19918		S/Y		T	medium	559/2591		getma.org/?cm=msa&ty=f&p=CD20B_HUMAN&rb=1&re=209&var=S138Y	tolerated(0.12)				YES	CDC20B,missense_variant,p.Ser138Tyr,ENST00000334206,;CDC20B,missense_variant,p.Ser138Tyr,ENST00000296733,NM_001170402.1,NM_152623.2;CDC20B,missense_variant,p.Ser138Tyr,ENST00000381375,;CDC20B,missense_variant,p.Ser138Tyr,ENST00000322374,NM_001145734.2;CDC20B,missense_variant,p.Ser117Tyr,ENST00000331730,;CDC20B,missense_variant,p.Ser117Tyr,ENST00000507931,;CDC20B,missense_variant,p.Ser138Tyr,ENST00000513180,;							MODERATE	413/1560	S138Y	CD20B_HUMAN			Transcript		possibly_damaging(0.544)	.	ENSP00000370781		CCDS54852.1			1	
ITGB4	0	LGGM	GRCh37	17	73746209	73746209	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	11	.	.	ENST00000200181.3:c.3334T>C	p.Phe1112Leu	p.F1112L	ENST00000200181	NM_000213.3	1112	Ttc/Ctc	0	1	1	UPI00001AE5C0	0	NA	ENST00000200181		ENSG00000132470	6158		31	0		HGNC	p.F1112L		ITGB4		SNV			1				ENST00000450894	protein_coding	getma.org/?cm=var&var=hg19,17,73746209,T,C&fts=all		hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513		F/L		C	neutral	3521/5919		getma.org/?cm=msa&ty=f&p=ITB4_HUMAN&rb=1085&re=1127&var=F1112L	tolerated_low_confidence(0.79)				YES	ITGB4,missense_variant,p.Phe1112Leu,ENST00000200181,NM_000213.3;ITGB4,missense_variant,p.Phe1112Leu,ENST00000339591,;ITGB4,missense_variant,p.Phe1112Leu,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Phe1112Leu,ENST00000450894,NM_001005731.1;ITGB4,missense_variant,p.Phe1112Leu,ENST00000579662,;ITGB4,intron_variant,,ENST00000582629,;GALK1,downstream_gene_variant,,ENST00000225614,;ITGB4,upstream_gene_variant,,ENST00000583327,;ITGB4,upstream_gene_variant,,ENST00000584939,;ITGB4,downstream_gene_variant,,ENST00000584025,;ITGB4,upstream_gene_variant,,ENST00000579211,;GALK1,downstream_gene_variant,,ENST00000589643,;							MODERATE	3334/5469	F1112L	ITB4_HUMAN			Transcript		benign(0)	.	ENSP00000200181		CCDS11727.1			1	
IGLV3-32	0	LGGM	GRCh37	22	22937375	22937375	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	11	.	.	ENST00000390303.2:c.193A>T	p.Ile65Phe	p.I65F	ENST00000390303		65	Atc/Ttc	0	1	1	UPI000173A2E5	0		ENST00000390303		ENSG00000211657	5914		31			HGNC	p.I65F		IGLV3-32		SNV							ENST00000390303	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		I/F		T		232/358			deleterious(0.01)				YES	IGLV3-32,missense_variant,p.Ile65Phe,ENST00000390303,;							MODERATE	193/319					Transcript		possibly_damaging(0.708)	.	ENSP00000374838					1	
IGLV3-32	0	LGGM	GRCh37	22	22937374	22937374	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	11	.	.	ENST00000390303.2:c.192C>G	p.Val64=	p.V64=	ENST00000390303		64	gtC/gtG	0	1	1	UPI000173A2E5	0		ENST00000390303		ENSG00000211657	5914		31			HGNC	p.V64V		IGLV3-32		SNV							ENST00000390303	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		V		G		231/358							YES	IGLV3-32,synonymous_variant,p.=,ENST00000390303,;							LOW	192/319					Transcript			.	ENSP00000374838					1	
DNAH8	0	LGGM	GRCh37	6	38905941	38905941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	35	11	.	.	ENST00000359357.3:c.11104A>T	p.Asn3702Tyr	p.N3702Y	ENST00000359357		3702	Aac/Tac	0	1	1	UPI00003677EB	0	NA	ENST00000359357		ENSG00000124721	2952		46	4.28		HGNC	p.N3907Y		DNAH8		SNV							ENST00000327475	protein_coding	getma.org/?cm=var&var=hg19,6,38905941,A,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		N/Y		T	high	11358/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3662&re=3791&var=N3702Y					YES	DNAH8,missense_variant,p.Asn3907Tyr,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Asn3702Tyr,ENST00000359357,;DNAH8,missense_variant,p.Asn3666Tyr,ENST00000441566,;DNAH8,missense_variant,p.Asn3919Tyr,ENST00000449981,;RP1-207H1.3,intron_variant,,ENST00000416948,;							MODERATE	11104/13473	N3702Y	DYH8_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000352312					1	
F2R	0	LGGM	GRCh37	5	76028852	76028852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	45	11	.	.	ENST00000319211.4:c.802G>A	p.Ala268Thr	p.A268T	ENST00000319211	NM_001992.3	268	Gcc/Acc	0	1	1	UPI0000131312	0	getma.org/pdb.php?prot=PAR1_HUMAN&from=119&to=371&var=A268T	ENST00000319211		ENSG00000181104	3537		56	1.32		HGNC	p.A268T		F2R		SNV							ENST00000319211	protein_coding	getma.org/?cm=var&var=hg19,5,76028852,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00908,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321		A/T		A	low	1067/3821		getma.org/?cm=msa&ty=f&p=PAR1_HUMAN&rb=119&re=371&var=A268T	tolerated(0.53)	Q71UT7_HUMAN,Q6LCF1_HUMAN			YES	F2R,missense_variant,p.Ala268Thr,ENST00000319211,NM_001992.3;							MODERATE	802/1278	A268T	PAR1_HUMAN			Transcript		benign(0.022)	.	ENSP00000321326		CCDS4032.1			1	
TRAPPC10	0	LGGM	GRCh37	21	45522854	45522854	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	22	12	.	.	ENST00000291574.4:c.3541+1G>C		p.X1181_splice	ENST00000291574	NM_003274.4			0	1	1	UPI0000129E26	0		ENST00000291574		ENSG00000160218	11868		34			HGNC	-		TRAPPC10		SNV							ENST00000291574	protein_coding							C		-/6976				Q76NH5_HUMAN			YES	TRAPPC10,splice_donor_variant,,ENST00000291574,NM_003274.4;PWP2,upstream_gene_variant,,ENST00000291576,NM_005049.2;PWP2,upstream_gene_variant,,ENST00000456705,;TRAPPC10,downstream_gene_variant,,ENST00000465905,;TRAPPC10,downstream_gene_variant,,ENST00000486746,;TRAPPC10,splice_donor_variant,,ENST00000459741,;TRAPPC10,splice_donor_variant,,ENST00000422875,;TRAPPC10,splice_donor_variant,,ENST00000468864,;TRAPPC10,downstream_gene_variant,,ENST00000469521,;TRAPPC10,downstream_gene_variant,,ENST00000485621,;							HIGH	3541/3780		TPC10_HUMAN			Transcript			.	ENSP00000291574		CCDS13704.1			1	
TTLL9	0	LGGM	GRCh37	20	30486348	30486348	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	12	.	.	ENST00000375938.4:c.186A>T	p.Pro62=	p.P62=	ENST00000375938		62	ccA/ccT	0	1	1	UPI00001998D0	0		ENST00000375938		ENSG00000131044	16118		20			HGNC	p.P62P		TTLL9		SNV							ENST00000375938	protein_coding			PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF39		P		T		439/2623							YES	TTLL9,synonymous_variant,p.=,ENST00000375938,;TTLL9,synonymous_variant,p.=,ENST00000375921,;TTLL9,synonymous_variant,p.=,ENST00000535842,NM_001008409.2;TTLL9,synonymous_variant,p.=,ENST00000375922,;TTLL9,synonymous_variant,p.=,ENST00000310998,;TTLL9,synonymous_variant,p.=,ENST00000375934,;RNU1-94P,upstream_gene_variant,,ENST00000362627,;							LOW	186/1320		TTLL9_HUMAN			Transcript			.	ENSP00000365105		CCDS42863.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121653562	121653562	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	33	12	.	.	ENST00000393386.2:c.4462A>G	p.Thr1488Ala	p.T1488A	ENST00000393386	NM_001206838.1	1488	Aca/Gca	0	1	1	UPI000020F9BB	0	NA	ENST00000393386		ENSG00000106278	9685		45	1.79		HGNC	p.T1488A		PTPRZ1		SNV							ENST00000393386	protein_coding	getma.org/?cm=var&var=hg19,7,121653562,A,G&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214		T/A		G	low	4873/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=421&re=1661&var=T1488A	tolerated(0.07)				YES	PTPRZ1,missense_variant,p.Thr1488Ala,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,downstream_gene_variant,,ENST00000483028,;							MODERATE	4462/6948	T1488A	PTPRZ_HUMAN			Transcript		benign(0.002)	.	ENSP00000377047		CCDS34740.1			1	
GALNT8	0	LGGM	GRCh37	12	4835710	4835710	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	12	12	.	.	ENST00000252318.2:c.224A>T	p.Lys75Ile	p.K75I	ENST00000252318	NM_017417.1	75	aAa/aTa	0	1	1	UPI0000070DEC	0	NA	ENST00000252318		ENSG00000130035	4130		24	1.445		HGNC	p.K75I		GALNT8		SNV							ENST00000252318	protein_coding	getma.org/?cm=var&var=hg19,12,4835710,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13		K/I		T	low	561/2380		getma.org/?cm=msa&ty=f&p=GALT8_HUMAN&rb=1&re=183&var=K75I	deleterious(0)	Q68VJ3_HUMAN			YES	GALNT8,missense_variant,p.Lys75Ile,ENST00000252318,NM_017417.1;RP11-234B24.6,3_prime_UTR_variant,,ENST00000544741,;RP11-234B24.6,non_coding_transcript_exon_variant,,ENST00000543979,;							MODERATE	224/1914	K75I	GALT8_HUMAN			Transcript		benign(0.333)	.	ENSP00000252318		CCDS8533.1			1	
ZBTB11	0	LGGM	GRCh37	3	101378769	101378769	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	24	12	.	.	ENST00000312938.4:c.1904A>G	p.Asn635Ser	p.N635S	ENST00000312938	NM_014415.3	635	aAt/aGt	0	1	1	UPI000013D5E3	0	NA	ENST00000312938		ENSG00000066422	16740		36	0		HGNC	p.N635S		ZBTB11		SNV							ENST00000312938	protein_coding	getma.org/?cm=var&var=hg19,3,101378769,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24387:SF4,hmmpanther:PTHR24387		N/S		C	neutral	2485/6020		getma.org/?cm=msa&ty=f&p=ZBT11_HUMAN&rb=620&re=664&var=N635S	tolerated(0.79)	Q59H97_HUMAN,B3KN38_HUMAN			YES	ZBTB11,missense_variant,p.Asn635Ser,ENST00000312938,NM_014415.3;Y_RNA,downstream_gene_variant,,ENST00000364251,;ZBTB11,upstream_gene_variant,,ENST00000471673,;							MODERATE	1904/3162	N635S	ZBT11_HUMAN			Transcript		benign(0.002)	.	ENSP00000326200		CCDS2943.1			1	
MBD1	0	LGGM	GRCh37	18	47800164	47800164	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	29	12	.	.	ENST00000590208.1:c.1216C>T	p.Arg406Ter	p.R406*	ENST00000590208	NM_001204136.1	406	Cga/Tga	0	1		UPI000013D836	0	NA	ENST00000269468		ENSG00000141644	6916		41	0		HGNC	p.R431X	rs771313933,COSM211971	MBD1		SNV						0,1	ENST00000585595	protein_coding	getma.org/?cm=var&var=hg19,18,47800164,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12396:SF4,hmmpanther:PTHR12396		R/*		A	NA	1653/3259		NA						MBD1,stop_gained,p.Arg406Ter,ENST00000591416,;MBD1,stop_gained,p.Arg406Ter,ENST00000269468,NM_015846.3;MBD1,stop_gained,p.Arg350Ter,ENST00000347968,NM_015844.2;MBD1,stop_gained,p.Arg383Ter,ENST00000436910,;MBD1,stop_gained,p.Arg383Ter,ENST00000269471,NM_015845.3;MBD1,stop_gained,p.Arg406Ter,ENST00000339998,NM_001204142.1;MBD1,stop_gained,p.Arg350Ter,ENST00000349085,NM_002384.2;MBD1,stop_gained,p.Arg406Ter,ENST00000590208,NM_001204136.1;MBD1,stop_gained,p.Arg357Ter,ENST00000353909,NM_015847.3;MBD1,stop_gained,p.Arg356Ter,ENST00000585672,NM_001204141.1;MBD1,stop_gained,p.Arg431Ter,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,stop_gained,p.Arg406Ter,ENST00000382948,NM_001204139.1;MBD1,stop_gained,p.Arg457Ter,ENST00000424334,;MBD1,stop_gained,p.Arg431Ter,ENST00000585595,;MBD1,stop_gained,p.Arg375Ter,ENST00000398495,NM_001204140.1;MBD1,stop_gained,p.Arg251Ter,ENST00000592060,;MBD1,stop_gained,p.Arg350Ter,ENST00000587605,NM_001204143.1;MBD1,stop_gained,p.Arg350Ter,ENST00000398493,;MBD1,stop_gained,p.Arg383Ter,ENST00000588937,;MBD1,stop_gained,p.Arg383Ter,ENST00000591535,NM_001204151.1;MBD1,stop_gained,p.Arg350Ter,ENST00000398488,;MBD1,stop_gained,p.Arg56Ter,ENST00000589541,;MBD1,stop_gained,p.Arg195Ter,ENST00000589733,;MBD1,downstream_gene_variant,,ENST00000586118,;MBD1,downstream_gene_variant,,ENST00000590215,;MBD1,downstream_gene_variant,,ENST00000589867,;MBD1,downstream_gene_variant,,ENST00000586679,;MBD1,upstream_gene_variant,,ENST00000586884,;MBD1,downstream_gene_variant,,ENST00000591661,;					0,1		HIGH	1216/1818	R406*	MBD1_HUMAN			Transcript			.	ENSP00000269468	8.24E-06	CCDS11943.1			1	
TRHDE	0	LGGM	GRCh37	12	73012733	73012733	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	24	13	.	.	ENST00000261180.4:c.2249A>T	p.Asp750Val	p.D750V	ENST00000261180	NM_013381.2	750	gAt/gTt	0	1	1	UPI0000136D52	0	getma.org/pdb.php?prot=TRHDE_HUMAN&from=678&to=1004&var=D750V	ENST00000261180		ENSG00000072657	30748		37	2.47		HGNC	p.D750V		TRHDE		SNV							ENST00000261180	protein_coding	getma.org/?cm=var&var=hg19,12,73012733,A,T&fts=all		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40		D/V		T	medium	2345/5618		getma.org/?cm=msa&ty=f&p=TRHDE_HUMAN&rb=678&re=1004&var=D750V	deleterious(0)				YES	TRHDE,missense_variant,p.Asp750Val,ENST00000261180,NM_013381.2;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;							MODERATE	2249/3075	D750V	TRHDE_HUMAN			Transcript		possibly_damaging(0.517)	.	ENSP00000261180		CCDS9004.1			1	
SAP130	0	LGGM	GRCh37	2	128747167	128747167	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	20	13	.	.	ENST00000357702.5:c.1829A>T	p.Gln610Leu	p.Q610L	ENST00000357702	NM_001145928.1	610	cAg/cTg	0	1		UPI0000037CDA	0	NA	ENST00000259235		ENSG00000136715	29813		33	0.975		HGNC	p.Q610L		SAP130		SNV							ENST00000357702	protein_coding	getma.org/?cm=var&var=hg19,2,128747167,T,A&fts=all		hmmpanther:PTHR13497		Q/L		A	low	1959/4065		getma.org/?cm=msa&ty=f&p=SP130_HUMAN&rb=601&re=800&var=Q610L	deleterious_low_confidence(0)	C9J683_HUMAN				SAP130,missense_variant,p.Gln610Leu,ENST00000357702,NM_001145928.1;SAP130,missense_variant,p.Gln584Leu,ENST00000259234,;SAP130,missense_variant,p.Gln610Leu,ENST00000259235,NM_024545.3;							MODERATE	1829/3147	Q610L	SP130_HUMAN			Transcript		unknown(0)	.	ENSP00000259235		CCDS2153.1			1	
CHAF1A	0	LGGM	GRCh37	19	4433195	4433195	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	31	13	.	.	ENST00000301280.5:c.2332A>T	p.Thr778Ser	p.T778S	ENST00000301280	NM_005483.2	778	Acc/Tcc	0	1	1	UPI00002030F8	0	NA	ENST00000301280		ENSG00000167670	1910		44	0.55		HGNC	p.T778S		CHAF1A		SNV							ENST00000301280	protein_coding	getma.org/?cm=var&var=hg19,19,4433195,A,T&fts=all		Pfam_domain:PF15539,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0		T/S		T	neutral	2433/3339		getma.org/?cm=msa&ty=f&p=CAF1A_HUMAN&rb=636&re=835&var=T778S	tolerated(0.97)				YES	CHAF1A,missense_variant,p.Thr778Ser,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,;							MODERATE	2332/2871	T778S	CAF1A_HUMAN			Transcript		benign(0.05)	.	ENSP00000301280		CCDS32875.1			1	
SIGLEC8	0	LGGM	GRCh37	19	51960778	51960778	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	15	13	.	.	ENST00000321424.3:c.670T>A	p.Cys224Ser	p.C224S	ENST00000321424	NM_014442.2	224	Tgt/Agt	0	1	1	UPI000013598B	0	getma.org/pdb.php?prot=SIGL8_HUMAN&from=168&to=226&var=C224S	ENST00000321424		ENSG00000105366	10877		28	2.66		HGNC	p.C37S		SIGLEC8		SNV							ENST00000597352	protein_coding	getma.org/?cm=var&var=hg19,19,51960778,A,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/S		T	medium	737/2949		getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=168&re=226&var=C224S	deleterious(0)				YES	SIGLEC8,missense_variant,p.Cys224Ser,ENST00000321424,NM_014442.2;SIGLEC8,intron_variant,,ENST00000430817,;SIGLEC8,intron_variant,,ENST00000340550,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;							MODERATE	670/1500	C224S	SIGL8_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000321077		CCDS33086.1			1	
PAXBP1	0	LGGM	GRCh37	21	34136660	34136660	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	13	.	.	ENST00000331923.4:c.648A>T	p.Pro216=	p.P216=	ENST00000331923	NM_016631.3	216	ccA/ccT	0	1	1	UPI000012B294	0		ENST00000331923		ENSG00000159086	13579		40			HGNC	p.P216P		PAXBP1		SNV							ENST00000443785	protein_coding			hmmpanther:PTHR12214:SF2,hmmpanther:PTHR12214		P		A		838/3995				Q9NZD7_HUMAN,Q8N6E6_HUMAN,Q8N2J1_HUMAN,B3KY25_HUMAN			YES	PAXBP1,splice_region_variant,p.=,ENST00000331923,NM_016631.3;PAXBP1,splice_region_variant,p.=,ENST00000290178,NM_013329.3;PAXBP1,splice_region_variant,,ENST00000472588,;PAXBP1,splice_region_variant,p.=,ENST00000443785,;PAXBP1,splice_region_variant,,ENST00000464256,;							LOW	648/2754		PAXB1_HUMAN			Transcript			.	ENSP00000328992		CCDS13619.1			1	
ZHX3	0	LGGM	GRCh37	20	39832631	39832631	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	19	13	.	.	ENST00000309060.3:c.926A>G	p.Tyr309Cys	p.Y309C	ENST00000309060		309	tAc/tGc	0	1	1	UPI000000D72C	0	NA	ENST00000309060		ENSG00000174306	15935		32	2.475		HGNC	p.Y309C		ZHX3		SNV							ENST00000432768	protein_coding	getma.org/?cm=var&var=hg19,20,39832631,T,C&fts=all		hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF6,SMART_domains:SM00389		Y/C		C	medium	1342/10030		getma.org/?cm=msa&ty=f&p=ZHX3_HUMAN&rb=201&re=310&var=Y309C	deleterious(0)	H0YMK8_HUMAN,F6YD28_HUMAN,F6XGA7_HUMAN,F6UQN6_HUMAN,F6UBH9_HUMAN,F6S7L4_HUMAN			YES	ZHX3,missense_variant,p.Tyr309Cys,ENST00000309060,;ZHX3,missense_variant,p.Tyr309Cys,ENST00000540170,NM_015035.3;ZHX3,missense_variant,p.Tyr18Cys,ENST00000421422,;ZHX3,missense_variant,p.Tyr309Cys,ENST00000559234,;ZHX3,missense_variant,p.Tyr309Cys,ENST00000560361,;ZHX3,missense_variant,p.Tyr309Cys,ENST00000432768,;ZHX3,missense_variant,p.Tyr309Cys,ENST00000544979,;ZHX3,intron_variant,,ENST00000557816,;ZHX3,intron_variant,,ENST00000558993,;ZHX3,downstream_gene_variant,,ENST00000436440,;ZHX3,downstream_gene_variant,,ENST00000436099,;ZHX3,downstream_gene_variant,,ENST00000441102,;ZHX3,downstream_gene_variant,,ENST00000373261,;ZHX3,downstream_gene_variant,,ENST00000419740,;ZHX3,upstream_gene_variant,,ENST00000559436,;ZHX3,3_prime_UTR_variant,,ENST00000560364,;							MODERATE	926/2871	Y309C	ZHX3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312222		CCDS13315.1			1	
COG7	0	LGGM	GRCh37	16	23453947	23453947	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	42	14	.	.	ENST00000307149.5:c.455C>T	p.Ala152Val	p.A152V	ENST00000307149	NM_153603.3	152	gCc/gTc	0	1	1	UPI0000127E42	0	NA	ENST00000307149		ENSG00000168434	18622		56	1.65		HGNC	p.A152V		COG7		SNV			1				ENST00000307149	protein_coding	getma.org/?cm=var&var=hg19,16,23453947,G,A&fts=all		Pfam_domain:PF10191,hmmpanther:PTHR21443		A/V		A	low	641/2926		getma.org/?cm=msa&ty=f&p=COG7_HUMAN&rb=2&re=767&var=A152V	tolerated(0.09)				YES	COG7,missense_variant,p.Ala152Val,ENST00000307149,NM_153603.3;SNORA75,downstream_gene_variant,,ENST00000391291,;CTD-2270L9.2,downstream_gene_variant,,ENST00000561624,;							MODERATE	455/2313	A152V	COG7_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000305442		CCDS10610.1			1	
RFXAP	0	LGGM	GRCh37	13	37401839	37401839	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	9	14	.	.	ENST00000255476.2:c.768T>A	p.Asn256Lys	p.N256K	ENST00000255476	NM_000538.3	256	aaT/aaA	0	1	1	UPI0000133812	0	getma.org/pdb.php?prot=RFXAP_HUMAN&from=25&to=269&var=N256K	ENST00000255476		ENSG00000133111	9988		23	1.39		HGNC	p.N256K		RFXAP		SNV			1				ENST00000255476	protein_coding	getma.org/?cm=var&var=hg19,13,37401839,T,A&fts=all		Pfam_domain:PF15289,hmmpanther:PTHR15110,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		N/K		A	low	902/2304		getma.org/?cm=msa&ty=f&p=RFXAP_HUMAN&rb=25&re=269&var=N256K	tolerated_low_confidence(0.17)				YES	RFXAP,missense_variant,p.Asn256Lys,ENST00000255476,NM_000538.3;RFXAP,non_coding_transcript_exon_variant,,ENST00000472888,;							MODERATE	768/819	N256K	RFXAP_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000255476		CCDS9359.1			1	
TRPS1	0	LGGM	GRCh37	8	116631561	116631561	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	36	14	.	.	ENST00000395715.3:c.764A>G	p.His255Arg	p.H255R	ENST00000395715	NM_014112.2	255	cAc/cGc	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		50	0.695		HGNC	p.H242R		TRPS1		SNV			1				ENST00000519674	protein_coding	getma.org/?cm=var&var=hg19,8,116631561,T,C&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,SMART_domains:SM00355		H/R		C	neutral	885/5480		getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=207&re=406&var=H242R	deleterious_low_confidence(0)					TRPS1,missense_variant,p.His255Arg,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.His242Arg,ENST00000220888,;TRPS1,missense_variant,p.His246Arg,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.His196Arg,ENST00000519076,;TRPS1,missense_variant,p.His242Arg,ENST00000519674,;TRPS1,missense_variant,p.His246Arg,ENST00000517323,;TRPS1,downstream_gene_variant,,ENST00000519815,;TRPS1,downstream_gene_variant,,ENST00000395713,;TRPS1,downstream_gene_variant,,ENST00000422939,;TRPS1,downstream_gene_variant,,ENST00000451156,;							MODERATE	725/3846	H242R	TRPS1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000220888					1	
MACF1	0	LGGM	GRCh37	1	39909201	39909201	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	43	15	.	.	ENST00000545844.1:c.13209A>T	p.Thr4403=	p.T4403=	ENST00000545844		4403	acA/acT	0	1		UPI0001F78894	0		ENST00000372915		ENSG00000127603	13664		58			HGNC	p.T6462T		MACF1		SNV							ENST00000564288	protein_coding			Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966		T		T		19170/23440				Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,synonymous_variant,p.=,ENST00000564288,;MACF1,synonymous_variant,p.=,ENST00000567887,;MACF1,synonymous_variant,p.=,ENST00000372915,;MACF1,synonymous_variant,p.=,ENST00000289893,;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.=,ENST00000372925,;MACF1,downstream_gene_variant,,ENST00000469490,;							LOW	19083/22167		MACF1_HUMAN			Transcript			.	ENSP00000362006					1	
OR5AS1	0	LGGM	GRCh37	11	55798370	55798370	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	74	15	.	.	ENST00000313555.1:c.476A>G	p.His159Arg	p.H159R	ENST00000313555	NM_001001921.1	159	cAt/cGt	0	1	1	UPI000004B1FB	0	NA	ENST00000313555		ENSG00000181785	15261		89	2.845		HGNC	p.H159R	rs767077164	OR5AS1	0.000242	SNV							ENST00000313555	protein_coding	getma.org/?cm=var&var=hg19,11,55798370,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF153,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		H/R		G	medium	476/975		getma.org/?cm=msa&ty=f&p=O5AS1_HUMAN&rb=139&re=283&var=H159R	deleterious(0.01)				YES	OR5AS1,missense_variant,p.His159Arg,ENST00000313555,NM_001001921.1;							MODERATE	476/975	H159R	O5AS1_HUMAN			Transcript		benign(0.186)	.	ENSP00000324111	3.29E-05	CCDS31516.1			1	
RAPGEF5	0	LGGM	GRCh37	7	22306606	22306606	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	30	15	.	.	ENST00000344041.6:c.314T>C	p.Ile105Thr	p.I105T	ENST00000344041	NM_012294.3	105	aTt/aCt	0	1	1	UPI0000EA87E4	0	getma.org/pdb.php?prot=A8MQ07_HUMAN&from=1&to=200&var=I105T	ENST00000344041		ENSG00000136237	16862		45	1.905		HGNC	p.I105T		RAPGEF5		SNV							ENST00000344041	protein_coding	getma.org/?cm=var&var=hg19,7,22306606,A,G&fts=all		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF26		I/T		G	medium	627/6621		getma.org/?cm=msa&ty=f&p=A8MQ07_HUMAN&rb=1&re=200&var=I105T	deleterious(0)	C9JBS6_HUMAN,A8MQ07_HUMAN			YES	RAPGEF5,missense_variant,p.Ile105Thr,ENST00000344041,NM_012294.3;RAPGEF5,missense_variant,p.Ile258Thr,ENST00000405243,;RAPGEF5,non_coding_transcript_exon_variant,,ENST00000475788,;							MODERATE	314/2193	I105T				Transcript		possibly_damaging(0.488)	.	ENSP00000343656		CCDS55093.1			1	
USP3	0	LGGM	GRCh37	15	63845951	63845951	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	16	.	.	ENST00000380324.3:c.322C>T	p.Leu108=	p.L108=	ENST00000380324	NM_006537.3	108	Ctg/Ttg	0	1	1	UPI0000071F2D	0		ENST00000380324		ENSG00000140455	12626		53			HGNC	p.L91L		USP3		SNV							ENST00000558285	protein_coding			hmmpanther:PTHR24006:SF356,hmmpanther:PTHR24006,Gene3D:3.30.40.10,Superfamily_domains:SSF57850		L		T		451/2333				Q9Y2R8_HUMAN,H0YM72_HUMAN,B4DWJ6_HUMAN			YES	USP3,synonymous_variant,p.=,ENST00000268049,;USP3,synonymous_variant,p.=,ENST00000380324,NM_006537.3;USP3,synonymous_variant,p.=,ENST00000540797,NM_001256702.1;USP3,synonymous_variant,p.=,ENST00000558285,;USP3,synonymous_variant,p.=,ENST00000559711,;USP3,synonymous_variant,p.=,ENST00000536001,;USP3,synonymous_variant,p.=,ENST00000559771,;USP3,synonymous_variant,p.=,ENST00000560070,;USP3,intron_variant,,ENST00000539772,;USP3,downstream_gene_variant,,ENST00000561442,;USP3-AS1,intron_variant,,ENST00000559357,;USP3-AS1,intron_variant,,ENST00000560350,;USP3-AS1,intron_variant,,ENST00000560067,;USP3-AS1,downstream_gene_variant,,ENST00000559861,;USP3,intron_variant,,ENST00000561326,;USP3,synonymous_variant,p.=,ENST00000559257,;USP3,3_prime_UTR_variant,,ENST00000559192,;USP3,3_prime_UTR_variant,,ENST00000558157,;USP3,3_prime_UTR_variant,,ENST00000538686,;USP3,3_prime_UTR_variant,,ENST00000557884,;USP3,non_coding_transcript_exon_variant,,ENST00000558925,;USP3,intron_variant,,ENST00000559873,;							LOW	322/1563		UBP3_HUMAN			Transcript			.	ENSP00000369681		CCDS32265.1			1	
FGD5	0	LGGM	GRCh37	3	14949180	14949180	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	25	16	.	.	ENST00000285046.5:c.3298A>C	p.Ser1100Arg	p.S1100R	ENST00000285046	NM_152536.3	1100	Agc/Cgc	0	1	1	UPI00002372AE	0	getma.org/pdb.php?prot=FGD5_HUMAN&from=1084&to=1113&var=S1100R	ENST00000285046		ENSG00000154783	19117		41	1.355		HGNC	p.S1100R		FGD5		SNV							ENST00000285046	protein_coding	getma.org/?cm=var&var=hg19,3,14949180,A,C&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF13,Gene3D:2.30.29.30,Superfamily_domains:SSF50729,Superfamily_domains:SSF48065		S/R		C	low	3408/5720		getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=1084&re=1113&var=S1100R	tolerated(0.06)	A3KMQ0_HUMAN			YES	FGD5,missense_variant,p.Ser1100Arg,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Ser859Arg,ENST00000543601,;FGD5,non_coding_transcript_exon_variant,,ENST00000476851,;FGD5,non_coding_transcript_exon_variant,,ENST00000468662,;							MODERATE	3298/4389	S1100R	FGD5_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000285046		CCDS46767.1			1	
GOLGA6L2	0	LGGM	GRCh37	15	23689359	23689359	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	16	.	.	ENST00000567107.1:c.244G>C	p.Glu82Gln	p.E82Q	ENST00000567107		82	Gaa/Caa	0	1	1	UPI00024672CE	0		ENST00000567107		ENSG00000174450	26695		53			HGNC	p.E82Q		GOLGA6L2		SNV							ENST00000312015	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143:SF11,hmmpanther:PTHR23143		E/Q		G		297/3030				H3BMJ4_HUMAN			YES	GOLGA6L2,missense_variant,p.Glu82Gln,ENST00000567107,;GOLGA6L2,missense_variant,p.Glu82Gln,ENST00000312015,;GOLGA6L2,splice_region_variant,,ENST00000345070,;GOLGA6L2,missense_variant,p.Glu72Gln,ENST00000566571,;							MODERATE	244/2730					Transcript		probably_damaging(0.948)	.	ENSP00000454407					1	
MECOM	0	LGGM	GRCh37	3	168834083	168834083	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	32	17	.	.	ENST00000264674.3:c.1208G>A	p.Ser403Asn	p.S403N	ENST00000264674	NM_001105077.3	403	aGt/aAt	0	1		UPI000013D551	0	NA	ENST00000468789		ENSG00000085276	3498		49	1.75		HGNC	p.S403N		MECOM		SNV			1				ENST00000264674	protein_coding	getma.org/?cm=var&var=hg19,3,168834083,C,T&fts=all		hmmpanther:PTHR24393		S/N		T	low	1401/3691		getma.org/?cm=msa&ty=f&p=EVI1_HUMAN&rb=240&re=439&var=S338N	tolerated(0.07)	Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,missense_variant,p.Ser338Asn,ENST00000464456,NM_001164000.1;MECOM,missense_variant,p.Ser403Asn,ENST00000264674,NM_001105077.3;MECOM,missense_variant,p.Ser338Asn,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,missense_variant,p.Ser526Asn,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Ser338Asn,ENST00000468789,NM_001105078.3;MECOM,missense_variant,p.Ser339Asn,ENST00000472280,;MECOM,missense_variant,p.Ser339Asn,ENST00000433243,;MECOM,missense_variant,p.Ser338Asn,ENST00000460814,;MECOM,intron_variant,,ENST00000492586,;MECOM,downstream_gene_variant,,ENST00000461430,;							MODERATE	1013/3156	S338N	EVI1_HUMAN			Transcript		benign(0.033)	.	ENSP00000419995		CCDS3205.1			1	
C19orf47	0	LGGM	GRCh37	19	40842279	40842279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	32	17	.	.	ENST00000582783.1:c.166G>T	p.Gly56Cys	p.G56C	ENST00000582783	NM_001256440.1	56	Ggc/Tgc	0	1	1	UPI000006FE9B	0		ENST00000582783		ENSG00000160392	26723		49			HGNC	p.G56C		C19orf47		SNV							ENST00000580977	protein_coding			hmmpanther:PTHR21359,hmmpanther:PTHR21359:SF1,Superfamily_domains:SSF47769		G/C		A		179/3628			deleterious(0)	J3QS16_HUMAN,J3QKZ5_HUMAN			YES	C19orf47,missense_variant,p.Gly56Cys,ENST00000582783,NM_001256440.1;C19orf47,missense_variant,p.Gly19Cys,ENST00000580606,;C19orf47,5_prime_UTR_variant,,ENST00000392035,NM_001256441.1;C19orf47,5_prime_UTR_variant,,ENST00000582006,;Y_RNA,downstream_gene_variant,,ENST00000384551,;C19orf47,missense_variant,p.Gly29Cys,ENST00000357884,;C19orf47,missense_variant,p.Gly56Cys,ENST00000580977,;							MODERATE	166/1269		CS047_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000463159		CCDS58662.1			1	
ZMYM4	0	LGGM	GRCh37	1	35857883	35857883	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	21	17	.	.	ENST00000314607.6:c.2658A>T	p.Ile886=	p.I886=	ENST00000314607	NM_005095.2	886	atA/atT	0	1	1	UPI0000203EE6	0		ENST00000314607		ENSG00000146463	13055		38			HGNC	p.I797I		ZMYM4		SNV							ENST00000373297	protein_coding			hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697		I		T		2738/6994							YES	ZMYM4,synonymous_variant,p.=,ENST00000314607,NM_005095.2;ZMYM4,synonymous_variant,p.=,ENST00000373297,;ZMYM4,synonymous_variant,p.=,ENST00000457946,;ZMYM4,upstream_gene_variant,,ENST00000470175,;							LOW	2658/4647		ZMYM4_HUMAN			Transcript			.	ENSP00000322915		CCDS389.1			1	
BNC1	0	LGGM	GRCh37	15	83933317	83933317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	35	17	.	.	ENST00000345382.2:c.686G>T	p.Ser229Ile	p.S229I	ENST00000345382	NM_001717.3	229	aGt/aTt	0	1	1	UPI0000126796	0	NA	ENST00000345382		ENSG00000169594	1081		52	1.845		HGNC	p.S222I		BNC1		SNV							ENST00000569704	protein_coding	getma.org/?cm=var&var=hg19,15,83933317,C,A&fts=all		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1		S/I		A	low	772/4610		getma.org/?cm=msa&ty=f&p=BNC1_HUMAN&rb=201&re=356&var=S229I	deleterious(0)				YES	BNC1,missense_variant,p.Ser229Ile,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Ser222Ile,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;							MODERATE	686/2985	S229I	BNC1_HUMAN			Transcript		benign(0.063)	.	ENSP00000307041		CCDS10324.1			1	
NEK10	0	LGGM	GRCh37	3	27338690	27338690	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	22	17	.	.	ENST00000341435.5:c.1210A>T	p.Asn404Tyr	p.N404Y	ENST00000341435	NM_199347.2	404	Aat/Tat	0	1		UPI0000EE2A86	0	NA	ENST00000429845		ENSG00000163491	18592		39	1.735		HGNC	p.N404Y		NEK10		SNV							ENST00000429845	protein_coding	getma.org/?cm=var&var=hg19,3,27338690,T,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77,Superfamily_domains:SSF48371		N/Y		A	low	1573/4250		getma.org/?cm=msa&ty=f&p=NEK10_HUMAN&rb=1&re=509&var=N404Y	deleterious(0)	C9JJN0_HUMAN				NEK10,missense_variant,p.Asn404Tyr,ENST00000429845,;NEK10,missense_variant,p.Asn404Tyr,ENST00000341435,NM_199347.2;							MODERATE	1210/3519	N404Y	NEK10_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000395849					1	
ANKRD6	0	LGGM	GRCh37	6	90340685	90340685	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	43	18	.	.	ENST00000522441.1:c.2146C>G	p.Leu716Val	p.L716V	ENST00000522441	NM_001242811.1	716	Ctt/Gtt	0	1		UPI000020D325	0	NA	ENST00000339746		ENSG00000135299	17280		61	1.155		HGNC	p.L716V		ANKRD6		SNV							ENST00000522441	protein_coding	getma.org/?cm=var&var=hg19,6,90340685,C,G&fts=all		Coiled-coils_(Ncoils):Coil		L/V		G	low	2456/3073		getma.org/?cm=msa&ty=f&p=ANKR6_HUMAN&rb=380&re=725&var=L716V	deleterious(0)	E5RJR9_HUMAN,E5RJ45_HUMAN,E5RIS1_HUMAN,E5RIJ4_HUMAN				ANKRD6,missense_variant,p.Leu681Val,ENST00000369408,NM_001242813.1;ANKRD6,missense_variant,p.Leu716Val,ENST00000522441,NM_001242811.1;ANKRD6,missense_variant,p.Leu716Val,ENST00000339746,NM_001242809.1;ANKRD6,missense_variant,p.Leu711Val,ENST00000447838,NM_014942.4;ANKRD6,missense_variant,p.Leu652Val,ENST00000520793,NM_001242814.1;LYRM2,intron_variant,,ENST00000520441,;LYRM2,downstream_gene_variant,,ENST00000523377,NM_020466.4;ANKRD6,downstream_gene_variant,,ENST00000518150,;ANKRD6,downstream_gene_variant,,ENST00000521004,;ANKRD6,downstream_gene_variant,,ENST00000492158,;LYRM2,intron_variant,,ENST00000523793,;LYRM2,intron_variant,,ENST00000520897,;LYRM2,downstream_gene_variant,,ENST00000517396,;ANKRD6,downstream_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,,ENST00000521240,;							MODERATE	2146/2184	L716V	ANKR6_HUMAN			Transcript		benign(0.242)	.	ENSP00000345767		CCDS56441.1			1	
ZACN	0	LGGM	GRCh37	17	74077765	74077765	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	36	18	.	.	ENST00000334586.5:c.809T>A	p.Leu270Gln	p.L270Q	ENST00000334586	NM_180990.3	270	cTg/cAg	0	1	1	UPI0000E5A0B8	0	NA	ENST00000334586		ENSG00000186919	29504		54	2.96		HGNC	p.L270Q		ZACN		SNV							ENST00000334586	protein_coding	getma.org/?cm=var&var=hg19,17,74077765,T,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF398,Gene3D:1.20.120.370,Superfamily_domains:SSF90112		L/Q		A	medium	892/1335		getma.org/?cm=msa&ty=f&p=ZACN_HUMAN&rb=253&re=331&var=L270Q	deleterious(0.04)				YES	ZACN,missense_variant,p.Leu270Gln,ENST00000334586,NM_180990.3;EXOC7,3_prime_UTR_variant,,ENST00000607838,NM_001145299.2,NM_001145297.2,NM_001145298.2;EXOC7,3_prime_UTR_variant,,ENST00000589210,NM_001013839.2;EXOC7,3_prime_UTR_variant,,ENST00000332065,NM_015219.3;EXOC7,downstream_gene_variant,,ENST00000335146,;EXOC7,downstream_gene_variant,,ENST00000467929,;EXOC7,downstream_gene_variant,,ENST00000405575,;EXOC7,downstream_gene_variant,,ENST00000411744,;EXOC7,downstream_gene_variant,,ENST00000357231,;GALR2,downstream_gene_variant,,ENST00000329003,NM_003857.2;ZACN,downstream_gene_variant,,ENST00000392503,;EXOC7,intron_variant,,ENST00000591724,;ZACN,3_prime_UTR_variant,,ENST00000425015,;ZACN,3_prime_UTR_variant,,ENST00000421794,;EXOC7,non_coding_transcript_exon_variant,,ENST00000465252,;ZACN,non_coding_transcript_exon_variant,,ENST00000590045,;EXOC7,downstream_gene_variant,,ENST00000467586,;EXOC7,downstream_gene_variant,,ENST00000592559,;ZACN,downstream_gene_variant,,ENST00000591500,;EXOC7,downstream_gene_variant,,ENST00000460476,;EXOC7,downstream_gene_variant,,ENST00000494787,;ZACN,downstream_gene_variant,,ENST00000524242,;							MODERATE	809/1239	L270Q	ZACN_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000334854		CCDS11740.2			1	
USH2A	0	LGGM	GRCh37	1	215802224	215802224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	18	.	.	ENST00000307340.3:c.15451A>G	p.Ile5151Val	p.I5151V	ENST00000307340	NM_206933.2	5151	Att/Gtt	0	1	1	UPI000034E5B6	0	NA	ENST00000307340		ENSG00000042781	12601		55	1.61		HGNC	p.I5151V	rs769715362	USH2A		SNV			1				ENST00000307340	protein_coding	getma.org/?cm=var&var=hg19,1,215802224,T,C&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170		I/V		C	low	15838/18883	1.50E-05	getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=5038&re=5153&var=I5151V					YES	USH2A,missense_variant,p.Ile5175Val,ENST00000366943,;USH2A,missense_variant,p.Ile5151Val,ENST00000307340,NM_206933.2;SNORD116,downstream_gene_variant,,ENST00000365628,;							MODERATE	15451/15609	I5151V	USH2A_HUMAN			Transcript		benign(0)	.	ENSP00000305941	8.24E-06	CCDS31025.1			1	
GPR174	0	LGGM	GRCh37	X	78427405	78427405	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	8	18	.	.	ENST00000276077.1:c.901A>T	p.Arg301Ter	p.R301*	ENST00000276077	NM_032553.1	301	Aga/Tga	0	1	1	UPI0000050477	0	NA	ENST00000276077		ENSG00000147138	30245		26	0		HGNC	p.R301X		GPR174		SNV							ENST00000276077	protein_coding	getma.org/?cm=var&var=hg19,X,78427405,A,T&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF4,Superfamily_domains:SSF81321		R/*		T	NA	937/1258		NA					YES	GPR174,stop_gained,p.Arg301Ter,ENST00000276077,NM_032553.1;							HIGH	901/1002	R301*	GP174_HUMAN			Transcript			.	ENSP00000276077		CCDS14443.1			1	
OSCAR	0	LGGM	GRCh37	19	54600319	54600319	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	29	18	.	.	ENST00000359649.4:c.215G>T	p.Gly72Val	p.G72V	ENST00000359649	NM_206818.1	72	gGa/gTa	0	1	1	UPI000034ECF7	0	getma.org/pdb.php?prot=OSCAR_HUMAN&from=32&to=123&var=G68V	ENST00000359649		ENSG00000170909	29960		47	4.135		HGNC	p.G72V		OSCAR		SNV							ENST00000356532	protein_coding	getma.org/?cm=var&var=hg19,19,54600319,C,A&fts=all		hmmpanther:PTHR11738,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/V		A	high	238/1892		getma.org/?cm=msa&ty=f&p=OSCAR_HUMAN&rb=32&re=123&var=G68V	deleterious(0.01)				YES	OSCAR,missense_variant,p.Gly68Val,ENST00000284648,;OSCAR,missense_variant,p.Gly72Val,ENST00000359649,NM_206818.1;OSCAR,missense_variant,p.Gly57Val,ENST00000391761,NM_001282350.1;OSCAR,missense_variant,p.Gly68Val,ENST00000358375,NM_133169.3;OSCAR,missense_variant,p.Gly57Val,ENST00000351806,NM_133168.3;OSCAR,missense_variant,p.Gly72Val,ENST00000356532,NM_130771.3;OSCAR,intron_variant,,ENST00000391760,;							MODERATE	215/861	G68V	OSCAR_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000352671		CCDS12876.1			1	
MUC16	0	LGGM	GRCh37	19	8997536	8997536	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	46	19	.	.	ENST00000397910.4:c.40886C>T	p.Ala13629Val	p.A13629V	ENST00000397910	NM_024690.2	13629	gCt/gTt	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		65	-1.04		HGNC	p.A270V		MUC16		SNV							ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8997536,G,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		A/V		A	neutral	41090/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13589&re=13635&var=E13631V		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ala13629Val,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Ala469Val,ENST00000599436,;MUC16,missense_variant,p.Ala270Val,ENST00000380951,;MUC16,missense_variant,p.Ala469Val,ENST00000601404,;MUC16,missense_variant,p.Ala249Val,ENST00000596768,;							MODERATE	40886/43524	E13631V				Transcript		probably_damaging(0.96)	.	ENSP00000381008		CCDS54212.1			1	
THOC3	0	LGGM	GRCh37	5	175387041	175387041	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	53	19	.	.	ENST00000265097.4:c.987A>T	p.Lys329Asn	p.K329N	ENST00000265097	NM_032361.3	329	aaA/aaT	0	1	1	UPI000006DDB3	0	NA	ENST00000265097		ENSG00000051596	19072		72	2.93		HGNC	p.K144N		THOC3		SNV							ENST00000514861	protein_coding	getma.org/?cm=var&var=hg19,5,175387041,T,A&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22839		K/N		A	medium	1078/1589		getma.org/?cm=msa&ty=f&p=THOC3_HUMAN&rb=293&re=351&var=K329N	tolerated(0.09)				YES	THOC3,missense_variant,p.Lys329Asn,ENST00000265097,NM_032361.3;THOC3,missense_variant,p.Lys144Asn,ENST00000514861,;THOC3,3_prime_UTR_variant,,ENST00000505969,;THOC3,intron_variant,,ENST00000432305,;THOC3,intron_variant,,ENST00000515016,;THOC3,downstream_gene_variant,,ENST00000513482,;RP11-91H12.4,upstream_gene_variant,,ENST00000502813,;THOC3,downstream_gene_variant,,ENST00000510300,;THOC3,downstream_gene_variant,,ENST00000514250,;THOC3,downstream_gene_variant,,ENST00000511062,;THOC3,downstream_gene_variant,,ENST00000513006,;THOC3,downstream_gene_variant,,ENST00000513118,;							MODERATE	987/1056	K329N	THOC3_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000265097		CCDS4397.1			1	
LRBA	0	LGGM	GRCh37	4	151356826	151356826	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	14	20	.	.	ENST00000357115.3:c.6989G>C	p.Gly2330Ala	p.G2330A	ENST00000357115	NM_006726.4	2330	gGa/gCa	0	1	1	UPI000013E35C	0	getma.org/pdb.php?prot=LRBA_HUMAN&from=2212&to=2489&var=G2330A	ENST00000357115		ENSG00000198589	1742		34	2.955		HGNC	p.G2330A		LRBA		SNV			1				ENST00000357115	protein_coding	getma.org/?cm=var&var=hg19,4,151356826,C,G&fts=all		PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837		G/A		G	medium	7233/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=2212&re=2489&var=G2330A	deleterious(0)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Gly2319Ala,ENST00000535741,;LRBA,missense_variant,p.Gly2319Ala,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Gly2330Ala,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Gly2319Ala,ENST00000507224,;LRBA,missense_variant,p.Gly972Ala,ENST00000509835,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;							MODERATE	6989/8592	G2330A	LRBA_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000349629		CCDS3773.1			1	
DLEU7	0	LGGM	GRCh37	13	51397541	51397541	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	16	20	.	.	ENST00000400393.3:c.459+19783T>A		*153*	ENST00000400393	NM_198989.2			0	1		UPI0000225CA2	0		ENST00000504404		ENSG00000186047	17567		36			HGNC	p.L192Q		DLEU7		SNV							ENST00000504404	protein_coding					L/Q		T		625/1122			deleterious(0)					DLEU7,missense_variant,p.Leu192Gln,ENST00000504404,;DLEU7,intron_variant,,ENST00000400393,NM_198989.2;DLEU7-AS1,intron_variant,,ENST00000413510,;							MODERATE	575/666		LEU7_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000427177					1	
HTR1E	0	LGGM	GRCh37	6	87725617	87725617	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	20	.	.	ENST00000305344.5:c.565G>T	p.Gly189Cys	p.G189C	ENST00000305344	NM_000865.2	189	Ggt/Tgt	0	1	1	UPI000000126D	0	getma.org/pdb.php?prot=5HT1E_HUMAN&from=39&to=344&var=G189C	ENST00000305344		ENSG00000168830	5291		47	2.11		HGNC	p.G189C		HTR1E		SNV							ENST00000369584	protein_coding	getma.org/?cm=var&var=hg19,6,87725617,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01101,Prints_domain:PR00237		G/C		T	medium	1268/2000		getma.org/?cm=msa&ty=f&p=5HT1E_HUMAN&rb=39&re=344&var=G189C	deleterious(0)				YES	HTR1E,missense_variant,p.Gly189Cys,ENST00000305344,NM_000865.2;							MODERATE	565/1098	G189C	5HT1E_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307766		CCDS5006.1			1	
WDR93	0	LGGM	GRCh37	15	90270477	90270477	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	19	20	.	.	ENST00000268130.7:c.970A>T	p.Ser324Cys	p.S324C	ENST00000268130	NM_020212.1	324	Agt/Tgt	0	1	1	UPI00001D77A7	0	NA	ENST00000268130		ENSG00000140527	26924		39	1.01		HGNC	p.S41C		WDR93		SNV							ENST00000557825	protein_coding	getma.org/?cm=var&var=hg19,15,90270477,A,T&fts=all		hmmpanther:PTHR12219,hmmpanther:PTHR12219:SF14		S/C		T	low	1071/2409		getma.org/?cm=msa&ty=f&p=WDR93_HUMAN&rb=19&re=558&var=S324C	deleterious(0.05)	H0YL01_HUMAN,B4DXL7_HUMAN			YES	WDR93,missense_variant,p.Ser324Cys,ENST00000268130,NM_020212.1;WDR93,missense_variant,p.Ser324Cys,ENST00000560294,NM_001284395.1;WDR93,missense_variant,p.Ser41Cys,ENST00000444934,;WDR93,missense_variant,p.Ser41Cys,ENST00000557825,;							MODERATE	970/2061	S324C	WDR93_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000268130		CCDS32326.1			1	
FNIP1	0	LGGM	GRCh37	5	131008392	131008392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	59	20	.	.	ENST00000510461.1:c.1745A>T	p.Glu582Val	p.E582V	ENST00000510461	NM_133372.2	582	gAg/gTg	0	1	1	UPI00001AEE81	0	NA	ENST00000510461		ENSG00000217128	29418		79	2.08		HGNC	p.E537V		FNIP1		SNV							ENST00000307954	protein_coding	getma.org/?cm=var&var=hg19,5,131008392,T,A&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12		E/V		A	medium	1841/3845		getma.org/?cm=msa&ty=f&p=FNIP1_HUMAN&rb=569&re=1164&var=E582V	deleterious(0)	B3KX44_HUMAN			YES	FNIP1,missense_variant,p.Glu554Val,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Glu537Val,ENST00000307954,;FNIP1,missense_variant,p.Glu582Val,ENST00000510461,NM_133372.2;CTC-432M15.3,intron_variant,,ENST00000514667,;FNIP1,downstream_gene_variant,,ENST00000511848,;							MODERATE	1745/3501	E582V	FNIP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000421985		CCDS34227.1			1	
TMEM81	0	LGGM	GRCh37	1	205052848	205052848	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	45	20	.	.	ENST00000367167.3:c.601A>G	p.Ile201Val	p.I201V	ENST00000367167	NM_203376.1	201	Ata/Gta	0	1	1	UPI0000199A1E	0	NA	ENST00000367167		ENSG00000174529	32349		65	-0.805		HGNC	p.I201V		TMEM81		SNV							ENST00000367167	protein_coding	getma.org/?cm=var&var=hg19,1,205052848,T,C&fts=all				I/V		C	neutral	798/1388		getma.org/?cm=msa&ty=f&p=TMM81_HUMAN&rb=1&re=254&var=I201V	tolerated(0.97)				YES	TMEM81,missense_variant,p.Ile201Val,ENST00000367167,NM_203376.1;RBBP5,downstream_gene_variant,,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,downstream_gene_variant,,ENST00000367164,NM_001193272.1;							MODERATE	601/768	I201V	TMM81_HUMAN			Transcript		benign(0.002)	.	ENSP00000356135		CCDS1450.1			1	
OR10R2	0	LGGM	GRCh37	1	158450444	158450444	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	33	21	.	.	ENST00000368152.1:c.777C>A	p.Ser259=	p.S259=	ENST00000368152	NM_001004472.1	259	tcC/tcA	0	1	1	UPI000004CA1C	0		ENST00000368152		ENSG00000198965	14820		54			HGNC	p.S259S		OR10R2		SNV							ENST00000368152	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF42,Superfamily_domains:SSF81321		S		A		777/1008							YES	OR10R2,synonymous_variant,p.=,ENST00000368152,NM_001004472.1;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;							LOW	777/1008		O10R2_HUMAN			Transcript			.	ENSP00000357134		CCDS30898.1			1	
NRAS	0	LGGM	GRCh37	1	115251223	115251223	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	33	21	.	.	ENST00000369535.4:c.503T>A	p.Met168Lys	p.M168K	ENST00000369535	NM_002524.4	168	aTg/aAg	0	1	1	UPI0000001254	0	getma.org/pdb.php?prot=RASN_HUMAN&from=166&to=189&var=M168K	ENST00000369535		ENSG00000213281	7989		54	-0.895		HGNC	p.M168K		NRAS		SNV			1				ENST00000369535	protein_coding	getma.org/?cm=var&var=hg19,1,115251223,A,T&fts=all		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF189		M/K		T	neutral	757/4449		getma.org/?cm=msa&ty=f&p=RASN_HUMAN&rb=136&re=189&var=M168K	tolerated(0.93)	Q9UM97_HUMAN,Q71SP6_HUMAN,Q5U091_HUMAN,P78460_HUMAN			YES	NRAS,missense_variant,p.Met168Lys,ENST00000369535,NM_002524.4;							MODERATE	503/570	M168K	RASN_HUMAN			Transcript		benign(0.069)	.	ENSP00000358548		CCDS877.1			1	
DUOXA2	0	LGGM	GRCh37	15	45410106	45410106	+	stop_lost	Nonstop_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	26	21	.	.	ENST00000323030.5:c.962G>T	p.Ter321LeuextTer71	p.*321Lext*71	ENST00000323030	NM_207581.3	321	tGa/tTa	0	1	1	UPI000049DDDD	0		ENST00000323030		ENSG00000140274	32698		47			HGNC	p.X321L		DUOXA2		SNV			1				ENST00000323030	protein_coding					*/L		T		1247/1760							YES	DUOXA2,stop_lost,p.Ter321LeuextTer71,ENST00000323030,NM_207581.3;DUOXA1,missense_variant,p.His385Asn,ENST00000267803,NM_144565.3;DUOXA1,missense_variant,p.His385Asn,ENST00000559014,NM_001276264.1;DUOXA1,missense_variant,p.His340Asn,ENST00000430224,NM_001276265.1;DUOXA1,3_prime_UTR_variant,,ENST00000558996,NM_001276268.1;DUOX2,upstream_gene_variant,,ENST00000389039,;DUOX2,upstream_gene_variant,,ENST00000603300,NM_014080.4;DUOXA1,downstream_gene_variant,,ENST00000558422,NM_001276267.1;DUOXA1,downstream_gene_variant,,ENST00000560572,NM_001276266.1;DUOXA1,downstream_gene_variant,,ENST00000558377,;DUOXA1,downstream_gene_variant,,ENST00000559226,;DUOXA1,downstream_gene_variant,,ENST00000558326,;DUOXA1,downstream_gene_variant,,ENST00000559988,;DUOXA2,3_prime_UTR_variant,,ENST00000491993,;DUOX2,upstream_gene_variant,,ENST00000558383,;DUOXA1,downstream_gene_variant,,ENST00000559013,;DUOXA2,downstream_gene_variant,,ENST00000350243,;							HIGH	962/963		DOXA2_HUMAN			Transcript			.	ENSP00000319705		CCDS10118.2			1	
NPAP1	0	LGGM	GRCh37	15	24924451	24924451	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	37	21	.	.	ENST00000329468.2:c.3437A>T	p.Tyr1146Phe	p.Y1146F	ENST00000329468	NM_018958.2	1146	tAt/tTt	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		58	0.69		HGNC	p.Y1146F		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24924451,A,T&fts=all				Y/F		T	neutral	3911/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=Y1146F	deleterious_low_confidence(0)				YES	NPAP1,missense_variant,p.Tyr1146Phe,ENST00000329468,NM_018958.2;							MODERATE	3437/3471	Y1146F	NPAP1_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000333735		CCDS10015.1			1	
CACNA2D3	0	LGGM	GRCh37	3	54880473	54880473	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	43	22	.	.	ENST00000474759.1:c.1605G>T	p.Thr535=	p.T535=	ENST00000474759	NM_018398.2	535	acG/acT	0	1		UPI000004A7BF	0		ENST00000288197		ENSG00000157445	15460		65			HGNC	p.T535T	rs778939933	CACNA2D3	9.06E-05	SNV							ENST00000415676	protein_coding			hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166,Pfam_domain:PF02743		T		T		1653/3671	5.21E-05			C9JAV5_HUMAN				CACNA2D3,synonymous_variant,p.=,ENST00000474759,NM_018398.2;CACNA2D3,synonymous_variant,p.=,ENST00000288197,;CACNA2D3,synonymous_variant,p.=,ENST00000415676,;CACNA2D3,synonymous_variant,p.=,ENST00000490478,;CACNA2D3,synonymous_variant,p.=,ENST00000471363,;CACNA2D3,synonymous_variant,p.=,ENST00000477024,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;							LOW	1605/3276		CA2D3_HUMAN			Transcript			.	ENSP00000288197	3.31E-05				1	
CCDC155	0	LGGM	GRCh37	19	49913110	49913110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	39	22	.	.	ENST00000447857.3:c.1247C>A	p.Ser416Tyr	p.S416Y	ENST00000447857	NM_144688.4	416	tCt/tAt	0	1	1	UPI000006F690	0	NA	ENST00000447857		ENSG00000161609	26520		61	1.61		HGNC	p.S416Y		CCDC155		SNV							ENST00000447857	protein_coding	getma.org/?cm=var&var=hg19,19,49913110,C,A&fts=all				S/Y		A	low	1452/2378		getma.org/?cm=msa&ty=f&p=CC155_HUMAN&rb=1&re=560&var=S416Y	deleterious_low_confidence(0.03)	M0R1C7_HUMAN,M0QXW9_HUMAN,M0QXT3_HUMAN,M0QX09_HUMAN			YES	CCDC155,missense_variant,p.Ser416Tyr,ENST00000447857,NM_144688.4;CCDC155,missense_variant,p.Ser378Tyr,ENST00000600570,;CCDC155,non_coding_transcript_exon_variant,,ENST00000593362,;CCDC155,non_coding_transcript_exon_variant,,ENST00000596419,;CCDC155,downstream_gene_variant,,ENST00000596130,;							MODERATE	1247/1689	S416Y	KASH5_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000404220		CCDS46140.1			1	
C1orf134	0	LGGM	GRCh37	1	16555489	16555489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	22	.	.	ENST00000375605.2:c.131G>T	p.Gly44Val	p.G44V	ENST00000375605		44	gGa/gTa	0	1	1	UPI0000470A39	0		ENST00000375605		ENSG00000204377	32021		49			HGNC	p.G44V		C1orf134		SNV							ENST00000375605	protein_coding					G/V		A		131/252							YES	C1orf134,missense_variant,p.Gly44Val,ENST00000375605,;RSG1,downstream_gene_variant,,ENST00000375599,NM_030907.3;RSG1,downstream_gene_variant,,ENST00000434014,;ANO7P1,upstream_gene_variant,,ENST00000602586,;							MODERATE	131/252		CA134_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000364755					1	
RYR3	0	LGGM	GRCh37	15	34014925	34014925	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	29	23	.	.	ENST00000389232.4:c.6629T>A	p.Val2210Glu	p.V2210E	ENST00000389232	NM_001036.3	2210	gTg/gAg	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		52	2.475		HGNC	p.V2210E		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,34014925,T,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF01365,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		V/E		A	medium	6699/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2019&re=2229&var=V2210E					YES	RYR3,missense_variant,p.Val2210Glu,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Val2210Glu,ENST00000415757,NM_001243996.1;Y_RNA,downstream_gene_variant,,ENST00000363138,;							MODERATE	6629/14613	V2210E	RYR3_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000373884		CCDS45210.1			1	
DENND4A	0	LGGM	GRCh37	15	65983523	65983523	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	58	23	.	.	ENST00000443035.3:c.3406del	p.Ser1136ValfsTer2	p.S1136Vfs*2	ENST00000443035	NM_001144823.1	1136	Agt/gt	0	1		UPI000013D21C	0		ENST00000431932		ENSG00000174485	24321		81			HGNC	p.S1136fs		DENND4A		deletion							ENST00000443035	protein_coding			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF16		S/X		-		3486/5875				H3BTW5_HUMAN,A8K2M7_HUMAN				DENND4A,frameshift_variant,p.Ser1136ValfsTer2,ENST00000443035,NM_001144823.1;DENND4A,frameshift_variant,p.Ser1093ValfsTer2,ENST00000431932,NM_005848.3;DENND4A,downstream_gene_variant,,ENST00000564674,;DENND4A,upstream_gene_variant,,ENST00000567323,;							HIGH	3277/5592		MYCPP_HUMAN			Transcript			.	ENSP00000396830		CCDS45285.1			1	
POM121L2	0	LGGM	GRCh37	6	27278938	27278938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	36	23	.	.	ENST00000444565.1:c.1012C>A	p.Pro338Thr	p.P338T	ENST00000444565	NM_033482.3	338	Ccc/Acc	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		59	2.215		HGNC	p.P338T		POM121L2		SNV							ENST00000444565	protein_coding	getma.org/?cm=var&var=hg19,6,27278938,G,T&fts=all		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		P/T		T	medium	1012/3108		getma.org/?cm=msa&ty=f&p=P12L2_HUMAN&rb=1&re=969&var=P338T	tolerated(0.06)	C9J1I7_HUMAN			YES	POM121L2,missense_variant,p.Pro338Thr,ENST00000444565,NM_033482.3;POM121L2,missense_variant,p.Pro338Thr,ENST00000377451,;POM121L2,missense_variant,p.Pro52Thr,ENST00000429945,;							MODERATE	1012/3108	P338T				Transcript		probably_damaging(0.95)	.	ENSP00000392726		CCDS59497.1			1	
PRB4	0	LGGM	GRCh37	12	11463321	11463321	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	38	24	.	.	ENST00000279575.1:c.12T>A	p.Ile4=	p.I4=	ENST00000279575	NM_001261399.1	4	atT/atA	0	1	1	UPI000013DBDC	0		ENST00000279575		ENSG00000230657	9340		62			HGNC	p.I4I	rs751333197	PRB4		SNV				9.61E-05			ENST00000279575	protein_coding			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23203:SF4,hmmpanther:PTHR23203,Pfam_domain:PF15240		I		T		46/913	1.50E-05			E9PAL0_HUMAN			YES	PRB4,synonymous_variant,p.=,ENST00000279575,NM_001261399.1,NM_002723.4;PRB4,synonymous_variant,p.=,ENST00000535904,;PRB4,synonymous_variant,p.=,ENST00000445719,;							LOW	12/744					Transcript			.	ENSP00000279575	1.65E-05	CCDS8641.1			1	
TDP1	0	LGGM	GRCh37	14	90433718	90433718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	24	24	.	.	ENST00000335725.4:c.611A>T	p.Tyr204Phe	p.Y204F	ENST00000335725	NM_018319.3	204	tAc/tTc	0	1	1	UPI00000737ED	0	getma.org/pdb.php?prot=TYDP1_HUMAN&from=163&to=582&var=Y204F	ENST00000335725		ENSG00000042088	18884		48	0.99		HGNC	p.Y204F		TDP1		SNV			1				ENST00000555178	protein_coding	getma.org/?cm=var&var=hg19,14,90433718,A,T&fts=all		hmmpanther:PTHR12415:SF0,hmmpanther:PTHR12415,Pfam_domain:PF06087,Gene3D:3.30.870.10,Superfamily_domains:SSF56024		Y/F		T	low	861/3696		getma.org/?cm=msa&ty=f&p=TYDP1_HUMAN&rb=163&re=582&var=Y204F	tolerated(0.18)	G3V5F9_HUMAN,G3V5B8_HUMAN,G3V554_HUMAN,G3V3Q0_HUMAN,G3V2U6_HUMAN,G3V2J6_HUMAN,B3KN41_HUMAN			YES	TDP1,missense_variant,p.Tyr204Phe,ENST00000335725,NM_018319.3;TDP1,missense_variant,p.Tyr204Phe,ENST00000393452,;TDP1,missense_variant,p.Tyr204Phe,ENST00000393454,NM_001008744.1;TDP1,missense_variant,p.Tyr204Phe,ENST00000555880,;TDP1,missense_variant,p.Tyr204Phe,ENST00000554180,;TDP1,missense_variant,p.Tyr105Phe,ENST00000553617,;TDP1,5_prime_UTR_variant,,ENST00000357382,;TDP1,downstream_gene_variant,,ENST00000553527,;TDP1,downstream_gene_variant,,ENST00000556867,;TDP1,downstream_gene_variant,,ENST00000553989,;TDP1,downstream_gene_variant,,ENST00000556498,;TDP1,non_coding_transcript_exon_variant,,ENST00000555565,;TDP1,missense_variant,p.Tyr204Phe,ENST00000545686,;TDP1,missense_variant,p.Tyr204Phe,ENST00000555178,;TDP1,3_prime_UTR_variant,,ENST00000554976,;							MODERATE	611/1827	Y204F	TYDP1_HUMAN			Transcript		possibly_damaging(0.785)	.	ENSP00000337353		CCDS9888.1			1	
ZNF701	0	LGGM	GRCh37	19	53085949	53085949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	43	24	.	.	ENST00000540331.1:c.835A>G	p.Lys279Glu	p.K279E	ENST00000540331	NM_001172655.1	279	Aaa/Gaa	0	1		UPI0001C53D22	0	NA	ENST00000301093		ENSG00000167562	25597		67	2.68		HGNC	p.K279E		ZNF701		SNV							ENST00000540331	protein_coding	getma.org/?cm=var&var=hg19,19,53085949,A,G&fts=all		hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		K/E		G	medium	870/2610		getma.org/?cm=msa&ty=f&p=ZN701_HUMAN&rb=49&re=228&var=K213E	deleterious(0.04)	M0R085_HUMAN,F5GZM6_HUMAN				ZNF701,missense_variant,p.Lys279Glu,ENST00000540331,NM_001172655.1;ZNF701,missense_variant,p.Lys213Glu,ENST00000391785,NM_018260.2;ZNF701,missense_variant,p.Lys279Glu,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;							MODERATE	835/1596	K213E				Transcript		probably_damaging(0.945)	.	ENSP00000301093		CCDS54311.1			1	
C5orf42	0	LGGM	GRCh37	5	37170276	37170276	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	67	24	.	.	ENST00000425232.2:c.6329A>T	p.Asn2110Ile	p.N2110I	ENST00000425232	NM_023073.3	2110	aAc/aTc	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		91	0.69		HGNC	p.N1114I		C5orf42		SNV			1				ENST00000509849	protein_coding	getma.org/?cm=var&var=hg19,5,37170276,T,A&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		N/I		A	neutral	6560/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=691&re=1730&var=N990I	tolerated(0.06)				YES	C5orf42,missense_variant,p.Asn990Ile,ENST00000274258,;C5orf42,missense_variant,p.Asn2110Ile,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Asn2110Ile,ENST00000508244,;C5orf42,missense_variant,p.Asn1158Ile,ENST00000514429,;C5orf42,upstream_gene_variant,,ENST00000511824,;C5orf42,missense_variant,p.Asn1114Ile,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000511781,;							MODERATE	6329/9594	N990I	CE042_HUMAN			Transcript		benign(0.046)	.	ENSP00000389014		CCDS34146.2			1	
PDE1C	0	LGGM	GRCh37	7	31887614	31887614	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	36	25	.	.	ENST00000396193.1:c.1128T>C	p.Asn376=	p.N376=	ENST00000396193	NM_001191058.1	376	aaT/aaC	0	1		UPI0000127BE9	0		ENST00000321453		ENSG00000154678	8776		61			HGNC	p.N316N		PDE1C		SNV							ENST00000396191	protein_coding			Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32,SMART_domains:SM00471,Superfamily_domains:SSF109604		N		G		1408/2898				Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,synonymous_variant,p.=,ENST00000396184,NM_005020.2;PDE1C,synonymous_variant,p.=,ENST00000396193,NM_001191058.1;PDE1C,synonymous_variant,p.=,ENST00000396191,NM_001191057.1;PDE1C,synonymous_variant,p.=,ENST00000321453,NM_001191059.1;PDE1C,synonymous_variant,p.=,ENST00000396182,NM_001191056.1;PDE1C,non_coding_transcript_exon_variant,,ENST00000478736,;							LOW	948/2130		PDE1C_HUMAN			Transcript			.	ENSP00000318105		CCDS55099.1			1	
ADAR	0	LGGM	GRCh37	1	154570976	154570976	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	247	25	.	.	ENST00000368474.4:c.1687A>T	p.Met563Leu	p.M563L	ENST00000368474	NM_001111.4	563	Atg/Ttg	0	1	1	UPI000045626B	0	getma.org/pdb.php?prot=DSRAD_HUMAN&from=504&to=569&var=M563L	ENST00000368474		ENSG00000160710	225		272	-0.125		HGNC	p.M606L	rs748929510	ADAR		SNV			1				ENST00000292205	protein_coding	getma.org/?cm=var&var=hg19,1,154570976,T,A&fts=all		Gene3D:3.30.160.20,Pfam_domain:PF00035,PROSITE_profiles:PS50137,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,SMART_domains:SM00358,Superfamily_domains:SSF54768		M/L		A	neutral	1887/6620	1.50E-05	getma.org/?cm=msa&ty=f&p=DSRAD_HUMAN&rb=504&re=569&var=M563L	tolerated(0.28)				YES	ADAR,missense_variant,p.Met563Leu,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,missense_variant,p.Met606Leu,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,missense_variant,p.Met268Leu,ENST00000368471,;ADAR,missense_variant,p.Met558Leu,ENST00000529168,;ADAR,downstream_gene_variant,,ENST00000471068,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,downstream_gene_variant,,ENST00000494866,;ADAR,downstream_gene_variant,,ENST00000463920,;							MODERATE	1687/3681	M563L	DSRAD_HUMAN			Transcript		benign(0.004)	.	ENSP00000357459	8.24E-06	CCDS1071.1			1	
HMGA2	0	LGGM	GRCh37	12	66308910	66308910	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	71	25	.	.	ENST00000403681.2:c.250-36253A>T		*84*	ENST00000403681	NM_003483.4			0	1	1	UPI0000000CE6	0		ENST00000403681		ENSG00000149948	5009		96			HGNC	p.X107C		HMGA2		SNV			1				ENST00000354636	protein_coding							T		-/4473				Q8IZX8_HUMAN,B2KX87_HUMAN			YES	HMGA2,stop_lost,p.Ter107CysextTer41,ENST00000354636,NM_003484.1;HMGA2,3_prime_UTR_variant,,ENST00000536545,;HMGA2,intron_variant,,ENST00000541363,;HMGA2,intron_variant,,ENST00000403681,NM_003483.4;HMGA2,intron_variant,,ENST00000393577,;AC090673.2,intron_variant,,ENST00000601398,;HMGA2,intron_variant,,ENST00000539662,;							MODIFIER	-/330		HMGA2_HUMAN			Transcript			.	ENSP00000384026		CCDS44936.1			1	
IL1RL1	0	LGGM	GRCh37	2	102959568	102959568	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	61	25	.	.	ENST00000233954.1:c.755A>T	p.Gln252Leu	p.Q252L	ENST00000233954	NM_016232.4	252	cAg/cTg	0	1	1	UPI000013C992	0	NA	ENST00000233954		ENSG00000115602	5998		86	0.905		HGNC	p.Q252L		IL1RL1		SNV							ENST00000233954	protein_coding	getma.org/?cm=var&var=hg19,2,102959568,A,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF7,hmmpanther:PTHR11890,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/L		T	low	1026/2058		getma.org/?cm=msa&ty=f&p=ILRL1_HUMAN&rb=211&re=307&var=Q252L	tolerated(0.33)	C9JSY6_HUMAN,A8VPX0_HUMAN			YES	IL1RL1,missense_variant,p.Gln252Leu,ENST00000311734,NM_001282408.1;IL1RL1,missense_variant,p.Gln238Leu,ENST00000409584,NM_003856.2;IL1RL1,missense_variant,p.Gln252Leu,ENST00000233954,NM_016232.4;IL1RL1,missense_variant,p.Gln135Leu,ENST00000404917,;IL18R1,intron_variant,,ENST00000410040,;IL1RL1,downstream_gene_variant,,ENST00000393393,;IL1RL1,downstream_gene_variant,,ENST00000447231,;IL1RL1,non_coding_transcript_exon_variant,,ENST00000482701,;IL1RL1,downstream_gene_variant,,ENST00000473175,;IL1RL1,3_prime_UTR_variant,,ENST00000427077,;IL1RL1,downstream_gene_variant,,ENST00000463990,;							MODERATE	755/1671	Q252L	ILRL1_HUMAN			Transcript		benign(0.013)	.	ENSP00000233954		CCDS2057.1			1	
SULT1C4	0	LGGM	GRCh37	2	109003783	109003783	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	25	.	.	ENST00000272452.2:c.804G>A	p.Val268=	p.V268=	ENST00000272452	NM_006588.2	268	gtG/gtA	0	1	1	UPI000013D958	0		ENST00000272452		ENSG00000198075	11457		52			HGNC	p.V193V		SULT1C4		SNV							ENST00000409309	protein_coding			hmmpanther:PTHR11783:SF51,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		V		A		1130/1860							YES	SULT1C4,synonymous_variant,p.=,ENST00000272452,NM_006588.2;SULT1C4,synonymous_variant,p.=,ENST00000409309,;SULT1C4,downstream_gene_variant,,ENST00000494122,;							LOW	804/909		ST1C4_HUMAN			Transcript			.	ENSP00000272452		CCDS2077.1			1	
MKI67	0	LGGM	GRCh37	10	129905883	129905883	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	27	26	.	.	ENST00000368654.3:c.4221G>T	p.Leu1407=	p.L1407=	ENST00000368654	NM_002417.4	1407	ctG/ctT	0	1	1	UPI000013DB54	0		ENST00000368654		ENSG00000148773	7107		53			HGNC	p.L1407L		MKI67		SNV							ENST00000368654	protein_coding			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065		L		A		4597/12678							YES	MKI67,synonymous_variant,p.=,ENST00000368654,NM_002417.4;MKI67,synonymous_variant,p.=,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,;MKI67,upstream_gene_variant,,ENST00000464771,;							LOW	4221/9771		KI67_HUMAN			Transcript			.	ENSP00000357643		CCDS7659.1			1	
TAPBPL	0	LGGM	GRCh37	12	6571254	6571254	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	71	26	.	.	ENST00000266556.7:c.1346C>G	p.Ala449Gly	p.A449G	ENST00000266556	NM_018009.4	449	gCt/gGt	0	1	1	UPI000013D6F6	0	NA	ENST00000266556		ENSG00000139192	30683		97	0.69		HGNC	p.A449G		TAPBPL		SNV							ENST00000266556	protein_coding	getma.org/?cm=var&var=hg19,12,6571254,C,G&fts=all		hmmpanther:PTHR23411,hmmpanther:PTHR23411:SF3		A/G		G	neutral	1511/1741		getma.org/?cm=msa&ty=f&p=TPSNR_HUMAN&rb=395&re=468&var=A449G	deleterious_low_confidence(0.02)				YES	TAPBPL,missense_variant,p.Ala449Gly,ENST00000266556,NM_018009.4;VAMP1,downstream_gene_variant,,ENST00000361716,;VAMP1,downstream_gene_variant,,ENST00000396308,NM_199245.1,NM_014231.3;VAMP1,downstream_gene_variant,,ENST00000400911,NM_016830.2;TAPBPL,downstream_gene_variant,,ENST00000544021,;VAMP1,downstream_gene_variant,,ENST00000535180,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000544289,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000542160,;VAMP1,downstream_gene_variant,,ENST00000544432,;VAMP1,downstream_gene_variant,,ENST00000539047,;VAMP1,downstream_gene_variant,,ENST00000535927,;VAMP1,downstream_gene_variant,,ENST00000538970,;							MODERATE	1346/1407	A449G	TPSNR_HUMAN			Transcript		benign(0.355)	.	ENSP00000266556		CCDS8546.1			1	
EID3	0	LGGM	GRCh37	12	104698305	104698305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	57	28	.	.	ENST00000527879.1:c.593A>T	p.Asn198Ile	p.N198I	ENST00000527879	NM_001008394.2	198	aAt/aTt	0	1	1	UPI000007080F	0	NA	ENST00000527879		ENSG00000255150	32961		85	1.7		HGNC	p.N198I		EID3		SNV							ENST00000527879	protein_coding	getma.org/?cm=var&var=hg19,12,104698305,A,T&fts=all		hmmpanther:PTHR16140:SF1,hmmpanther:PTHR16140		N/I		T	low	789/1464		getma.org/?cm=msa&ty=f&p=EID3_HUMAN&rb=35&re=331&var=N198I	tolerated(0.08)				YES	EID3,missense_variant,p.Asn198Ile,ENST00000527879,NM_001008394.2;TXNRD1,intron_variant,,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,intron_variant,,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,intron_variant,,ENST00000388854,;TXNRD1,intron_variant,,ENST00000378070,;TXNRD1,intron_variant,,ENST00000525566,NM_001093771.2;TXNRD1,intron_variant,,ENST00000429002,;TXNRD1,intron_variant,,ENST00000526390,;TXNRD1,intron_variant,,ENST00000354940,NM_182742.2;TXNRD1,intron_variant,,ENST00000397736,;TXNRD1,intron_variant,,ENST00000540716,;TXNRD1,intron_variant,,ENST00000529546,;TXNRD1,intron_variant,,ENST00000542918,;TXNRD1,intron_variant,,ENST00000524698,;TXNRD1,intron_variant,,ENST00000527335,;TXNRD1,intron_variant,,ENST00000531691,;TXNRD1,intron_variant,,ENST00000528079,;TXNRD1,intron_variant,,ENST00000529784,;TXNRD1,intron_variant,,ENST00000526266,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,intron_variant,,ENST00000531689,;TXNRD1,intron_variant,,ENST00000526580,;TXNRD1,intron_variant,,ENST00000527688,;							MODERATE	593/1002	N198I	EID3_HUMAN			Transcript		benign(0.043)	.	ENSP00000435619		CCDS53822.1			1	
LAPTM4B	0	LGGM	GRCh37	8	98828374	98828374	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	38	28	.	.	ENST00000445593.2:c.647A>C	p.Tyr216Ser	p.Y216S	ENST00000445593	NM_018407.4	216	tAt/tCt	0	1	1	UPI000018F5E2	0	NA	ENST00000445593		ENSG00000104341	13646		66	2.71		HGNC	p.Y125S		LAPTM4B		SNV							ENST00000521545	protein_coding	getma.org/?cm=var&var=hg19,8,98828374,A,C&fts=all		Pfam_domain:PF03821,hmmpanther:PTHR12479,hmmpanther:PTHR12479:SF6		Y/S		C	medium	1327/3173		getma.org/?cm=msa&ty=f&p=LAP4B_HUMAN&rb=165&re=370&var=Y269S	deleterious(0)	Q86SJ0_HUMAN			YES	LAPTM4B,missense_variant,p.Tyr216Ser,ENST00000445593,NM_018407.4;LAPTM4B,missense_variant,p.Tyr125Ser,ENST00000521545,;LAPTM4B,missense_variant,p.Tyr187Ser,ENST00000517924,;							MODERATE	647/954	Y269S	LAP4B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000402301		CCDS6275.1			1	
PCDH15	0	LGGM	GRCh37	10	55570329	55570329	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	25	28	.	.	ENST00000373965.2:c.4490A>C	p.Tyr1497Ser	p.Y1497S	ENST00000373965	NM_001142772.1	1497	tAt/tCt	0	1		UPI0000EE0485	0	NA	ENST00000373965		ENSG00000150275	14674		53	1.245		HGNC	p.Y1497S		PCDH15		SNV			1				ENST00000395445	protein_coding	getma.org/?cm=var&var=hg19,10,55570329,T,G&fts=all		Low_complexity_(Seg):seg		Y/S		G	low	4885/9258		getma.org/?cm=msa&ty=f&p=A9Z1W1_HUMAN&rb=1471&re=1683&var=Y1497S	tolerated_low_confidence(0.35)	A9Z1W1_HUMAN,A2A3D9_HUMAN				PCDH15,missense_variant,p.Tyr1497Ser,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Tyr1494Ser,ENST00000414778,;PCDH15,missense_variant,p.Met1514Leu,ENST00000395438,NM_001142770.1;PCDH15,missense_variant,p.Tyr1497Ser,ENST00000395445,NM_001142769.1;PCDH15,missense_variant,p.Met1125Leu,ENST00000409834,;PCDH15,intron_variant,,ENST00000395446,;PCDH15,intron_variant,,ENST00000395440,;PCDH15,intron_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000414367,;PCDH15,non_coding_transcript_exon_variant,,ENST00000476074,;							MODERATE	4490/5055	Y1497S				Transcript		benign(0.002)	.	ENSP00000363076					1	
KCTD20	0	LGGM	GRCh37	6	36442663	36442663	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	44	28	.	.	ENST00000373731.2:c.258G>A	p.Gly86=	p.G86=	ENST00000373731	NM_173562.3	86	ggG/ggA	0	1	1	UPI00001AADF6	0		ENST00000373731		ENSG00000112078	21052		72			HGNC	p.G86G		KCTD20		SNV							ENST00000460983	protein_coding			hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1		G		A		649/5619				F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN			YES	KCTD20,synonymous_variant,p.=,ENST00000373731,NM_173562.3;KCTD20,synonymous_variant,p.=,ENST00000460983,;KCTD20,synonymous_variant,p.=,ENST00000483557,;KCTD20,synonymous_variant,p.=,ENST00000498267,;KCTD20,intron_variant,,ENST00000449081,NM_001286579.1;KCTD20,intron_variant,,ENST00000544295,;KCTD20,intron_variant,,ENST00000536244,NM_001286580.1;KCTD20,intron_variant,,ENST00000474988,;KCTD20,intron_variant,,ENST00000481911,;KCTD20,intron_variant,,ENST00000265344,;							LOW	258/1260		KCD20_HUMAN			Transcript			.	ENSP00000362836		CCDS4821.1			1	
FAM228B	0	LGGM	GRCh37	2	24360887	24360887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	40	28	.	.	ENST00000420135.2:c.277A>G	p.Ile93Val	p.I93V	ENST00000420135		93	Ata/Gta	0	1	1	UPI0001AE7682	0	NA	ENST00000420135		ENSG00000219626	24736		68	1.59		HGNC	p.I93V		FAM228B		SNV							ENST00000407625	protein_coding	getma.org/?cm=var&var=hg19,2,24360887,A,G&fts=all				I/V		G	low	363/1354		getma.org/?cm=msa&ty=f&p=B5MD07_HUMAN&rb=1&re=308&var=I93V	tolerated(0.91)	C9JGZ2_HUMAN			YES	FAM228B,missense_variant,p.Ile93Val,ENST00000407625,NM_001145710.1;FAM228B,missense_variant,p.Ile93Val,ENST00000420135,;FAM228B,intron_variant,,ENST00000468799,;FAM228B,intron_variant,,ENST00000486967,;RP11-507M3.1,intron_variant,,ENST00000584973,;FAM228B,intron_variant,,ENST00000417898,;							MODERATE	277/972	I93V				Transcript		benign(0.041)	.	ENSP00000389043					1	
SDR42E1	0	LGGM	GRCh37	16	82033264	82033264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	90	29	.	.	ENST00000328945.5:c.634G>T	p.Val212Phe	p.V212F	ENST00000328945	NM_145168.2	212	Gtc/Ttc	0	1	1	UPI000003F552	0	getma.org/pdb.php?prot=D42E1_HUMAN&from=12&to=284&var=V212F	ENST00000328945		ENSG00000184860	29834		119	1.97		HGNC	p.V212F		SDR42E1		SNV							ENST00000328945	protein_coding	getma.org/?cm=var&var=hg19,16,82033264,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Superfamily_domains:SSF51735		V/F		A	medium	762/2805		getma.org/?cm=msa&ty=f&p=D42E1_HUMAN&rb=12&re=284&var=V212F	tolerated(0.53)				YES	SDR42E1,missense_variant,p.Val212Phe,ENST00000328945,NM_145168.2;SDR42E1,downstream_gene_variant,,ENST00000532128,;SDR42E1,downstream_gene_variant,,ENST00000534209,;							MODERATE	634/1182	V212F	D42E1_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000332407		CCDS42205.1			1	
CD8B	0	LGGM	GRCh37	2	87085210	87085210	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	78	29	.	.	ENST00000331469.2:c.373A>T	p.Thr125Ser	p.T125S	ENST00000331469	NM_172213.3	125	Acc/Tcc	0	1		UPI00001273B8	0	getma.org/pdb.php?prot=CD8BL_HUMAN&from=19&to=134&var=T125S	ENST00000390655		ENSG00000172116	1707		107	2.605		HGNC	p.T125S		CD8B		SNV							ENST00000393759	protein_coding	getma.org/?cm=var&var=hg19,2,87085210,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11292,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/S		A	medium	432/1417		getma.org/?cm=msa&ty=f&p=CD8BL_HUMAN&rb=19&re=134&var=T125S	tolerated(0.28)	B4E0Z8_HUMAN,B4E0F8_HUMAN				CD8B,missense_variant,p.Thr125Ser,ENST00000390655,NM_004931.4;CD8B,missense_variant,p.Thr125Ser,ENST00000393759,NM_172101.3;CD8B,missense_variant,p.Thr125Ser,ENST00000393761,NM_001178100.1;CD8B,missense_variant,p.Thr125Ser,ENST00000349455,NM_172102.3;CD8B,missense_variant,p.Thr125Ser,ENST00000331469,NM_172213.3;CD8B,intron_variant,,ENST00000431506,;AC111200.1,upstream_gene_variant,,ENST00000441646,;							MODERATE	373/633	T125S	CD8B_HUMAN			Transcript		benign(0.175)	.	ENSP00000375070		CCDS1997.1			1	
PRR14L	0	LGGM	GRCh37	22	32112266	32112266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	35	30	.	.	ENST00000327423.6:c.1559A>T	p.Glu520Val	p.E520V	ENST00000327423	NM_173566.2	520	gAg/gTg	0	1	1	UPI0000207582	0	NA	ENST00000327423		ENSG00000183530	28738		65	1.935		HGNC	p.E520V		PRR14L		SNV							ENST00000327423	protein_coding	getma.org/?cm=var&var=hg19,22,32112266,T,A&fts=all		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		E/V		A	medium	1749/10826		getma.org/?cm=msa&ty=f&p=PR14L_HUMAN&rb=1&re=689&var=E520V	deleterious(0)	C9J9V0_HUMAN			YES	PRR14L,missense_variant,p.Glu520Val,ENST00000327423,NM_173566.2;PRR14L,missense_variant,p.Glu520Val,ENST00000434485,;PRR14L,missense_variant,p.Glu520Val,ENST00000397493,;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,upstream_gene_variant,,ENST00000431684,;							MODERATE	1559/6456	E520V	PR14L_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000331845		CCDS13900.2			1	
CCDC27	0	LGGM	GRCh37	1	3672130	3672130	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	58	30	.	.	ENST00000294600.2:c.552C>T	p.Asp184=	p.D184=	ENST00000294600	NM_152492.2	184	gaC/gaT	0	1	1	UPI000013E186	0		ENST00000294600		ENSG00000162592	26546	8.64E-05	88			HGNC	p.D184D	rs752708476,COSM414459	CCDC27	0.000242	SNV						0,1	ENST00000294600	protein_coding			hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6		D		T		636/2176	4.51E-05						YES	CCDC27,splice_region_variant,p.=,ENST00000294600,NM_152492.2;CCDC27,splice_region_variant,p.=,ENST00000462521,;	0.00058				0,1		LOW	552/1971		CCD27_HUMAN			Transcript			common_variant	ENSP00000294600	0.000107	CCDS50.1			1	
PCDHB6	0	LGGM	GRCh37	5	140530220	140530220	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	96	31	.	.	ENST00000231136.1:c.382C>G	p.His128Asp	p.H128D	ENST00000231136	NM_018939.2	128	Cac/Gac	0	1	1	UPI00001273E2	0	getma.org/pdb.php?prot=PCDB6_HUMAN&from=34&to=132&var=H128D	ENST00000231136		ENSG00000113211	8691		127	3.7		HGNC	p.H128D		PCDHB6		SNV							ENST00000231136	protein_coding	getma.org/?cm=var&var=hg19,5,140530220,C,G&fts=all		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,SMART_domains:SM00112,Superfamily_domains:SSF49313		H/D		G	high	382/3030		getma.org/?cm=msa&ty=f&p=PCDB6_HUMAN&rb=34&re=132&var=H128D	deleterious_low_confidence(0)	F5H446_HUMAN			YES	PCDHB6,missense_variant,p.His128Asp,ENST00000231136,NM_018939.2;PCDHB6,5_prime_UTR_variant,,ENST00000543635,;							MODERATE	382/2385	H128D	PCDB6_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000231136		CCDS4248.1			1	
TBC1D30	0	LGGM	GRCh37	12	65258459	65258459	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	62	31	.	.	ENST00000539867.1:c.1050C>T	p.Ser350=	p.S350=	ENST00000539867	NM_015279.1	350	tcC/tcT	0	1	1	UPI000013F308	0		ENST00000539867		ENSG00000111490	29164		93			HGNC	p.S350S		TBC1D30		SNV							ENST00000539867	protein_coding			hmmpanther:PTHR22957:SF253,hmmpanther:PTHR22957		S		T		1358/2594				F8VZ81_HUMAN,F5H7L7_HUMAN			YES	TBC1D30,synonymous_variant,p.=,ENST00000542120,;TBC1D30,synonymous_variant,p.=,ENST00000229088,;TBC1D30,synonymous_variant,p.=,ENST00000539867,NM_015279.1;RPL7P39,downstream_gene_variant,,ENST00000481157,;							LOW	1050/2286		TBC30_HUMAN			Transcript			.	ENSP00000440207		CCDS53813.1			1	
BTNL8	0	LGGM	GRCh37	5	180338499	180338499	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	63	33	.	.	ENST00000340184.4:c.558T>C	p.His186=	p.H186=	ENST00000340184	NM_001040462.2	186	caT/caC	0	1	1	UPI00000389ED	0		ENST00000340184		ENSG00000113303	26131		96			HGNC	p.H2H	rs373005299	BTNL8		SNV	C:0						ENST00000503543	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,SMART_domains:SM00409,Superfamily_domains:SSF48726		H	C:0.0001	C		764/2071	1.50E-05			D6RIR7_HUMAN			YES	BTNL8,synonymous_variant,p.=,ENST00000231229,NM_024850.2,NM_001159708.1;BTNL8,synonymous_variant,p.=,ENST00000340184,NM_001040462.2;BTNL8,synonymous_variant,p.=,ENST00000508408,;BTNL8,synonymous_variant,p.=,ENST00000533815,NM_001159710.1;BTNL8,synonymous_variant,p.=,ENST00000400707,NM_001159709.1;BTNL8,synonymous_variant,p.=,ENST00000511704,NM_001159707.1;BTNL8,5_prime_UTR_variant,,ENST00000505126,;Y_RNA,downstream_gene_variant,,ENST00000410920,;BTNL8,synonymous_variant,p.=,ENST00000503543,;BTNL8,non_coding_transcript_exon_variant,,ENST00000514448,;BTNL8,non_coding_transcript_exon_variant,,ENST00000513442,;							LOW	558/1503		BTNL8_HUMAN			Transcript			.	ENSP00000342197	8.24E-06	CCDS43413.1			1	
TAB2	0	LGGM	GRCh37	6	149699819	149699819	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	43	33	.	.	ENST00000367456.1:c.768G>T	p.Trp256Cys	p.W256C	ENST00000367456		256	tgG/tgT	0	1	1	UPI0000073C75	0	NA	ENST00000367456		ENSG00000055208	17075		76	0		HGNC	p.W256C		TAB2		SNV			1				ENST00000392282	protein_coding	getma.org/?cm=var&var=hg19,6,149699819,G,T&fts=all		hmmpanther:PTHR10351:SF27,hmmpanther:PTHR10351		W/C		T	neutral	1345/4553		getma.org/?cm=msa&ty=f&p=TAB2_HUMAN&rb=251&re=340&var=W256C	deleterious(0.05)	U3KQR0_HUMAN			YES	TAB2,missense_variant,p.Trp256Cys,ENST00000367456,;TAB2,missense_variant,p.Trp256Cys,ENST00000538427,NM_015093.4;TAB2,missense_variant,p.Trp256Cys,ENST00000286332,;TAB2,missense_variant,p.Trp224Cys,ENST00000536230,;TAB2,missense_variant,p.Trp256Cys,ENST00000392282,;TAB2,downstream_gene_variant,,ENST00000606202,;TAB2,missense_variant,p.Trp256Cys,ENST00000470466,;							MODERATE	768/2082	W256C	TAB2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000356426		CCDS5214.1			1	
PRR14L	0	LGGM	GRCh37	22	32134498	32134498	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	52	35	.	.	ENST00000327423.6:c.349A>G	p.Met117Val	p.M117V	ENST00000327423	NM_173566.2	117	Atg/Gtg	0	1	1	UPI0000207582	0	NA	ENST00000327423		ENSG00000183530	28738		87	0.83		HGNC	p.M117V		PRR14L		SNV							ENST00000327423	protein_coding	getma.org/?cm=var&var=hg19,22,32134498,T,C&fts=all		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		M/V		C	low	539/10826		getma.org/?cm=msa&ty=f&p=PR14L_HUMAN&rb=1&re=689&var=M117V	tolerated(0.08)	C9J9V0_HUMAN			YES	PRR14L,missense_variant,p.Met117Val,ENST00000327423,NM_173566.2;PRR14L,missense_variant,p.Met117Val,ENST00000434485,;PRR14L,missense_variant,p.Met117Val,ENST00000397493,;PRR14L,missense_variant,p.Met117Val,ENST00000412743,;PRR14L,intron_variant,,ENST00000461722,;							MODERATE	349/6456	M117V	PR14L_HUMAN			Transcript		benign(0.007)	.	ENSP00000331845		CCDS13900.2			1	
SPATA16	0	LGGM	GRCh37	3	172835299	172835299	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	88	41	.	.	ENST00000351008.3:c.223A>T	p.Asn75Tyr	p.N75Y	ENST00000351008	NM_031955.5	75	Aat/Tat	0	1	1	UPI000013D9BF	0	NA	ENST00000351008		ENSG00000144962	29935		129	0.805		HGNC	p.N75Y		SPATA16		SNV			1				ENST00000351008	protein_coding	getma.org/?cm=var&var=hg19,3,172835299,T,A&fts=all		Pfam_domain:PF15015		N/Y		A	low	407/2106		getma.org/?cm=msa&ty=f&p=SPT16_HUMAN&rb=1&re=566&var=N75Y	deleterious(0.04)				YES	SPATA16,missense_variant,p.Asn75Tyr,ENST00000351008,NM_031955.5;							MODERATE	223/1710	N75Y	SPT16_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000341765		CCDS3221.1			1	
ZNF563	0	LGGM	GRCh37	19	12430193	12430193	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061095	H061095N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	76	43	.	.	ENST00000293725.5:c.646G>A	p.Glu216Lys	p.E216K	ENST00000293725	NM_145276.2	216	Gaa/Aaa	0	1	1	UPI0000072E62	0	getma.org/pdb.php?prot=ZN563_HUMAN&from=211&to=235&var=E216K	ENST00000293725		ENSG00000188868	30498		119	0.435		HGNC	p.E216K		ZNF563		SNV							ENST00000293725	protein_coding	getma.org/?cm=var&var=hg19,19,12430193,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF14,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/K		T	neutral	852/2754		getma.org/?cm=msa&ty=f&p=ZN563_HUMAN&rb=191&re=255&var=E216K	tolerated(0.06)	M0R1Q6_HUMAN			YES	ZNF563,missense_variant,p.Glu216Lys,ENST00000293725,NM_145276.2;ZNF563,missense_variant,p.Glu128Lys,ENST00000594577,;ZNF563,intron_variant,,ENST00000595977,;ZNF563,downstream_gene_variant,,ENST00000601858,;							MODERATE	646/1431	E216K	ZN563_HUMAN			Transcript		benign(0.163)	.	ENSP00000293725		CCDS12270.1			1	
PTCHD4	0	LGGM	GRCh37	6	47846856	47846856	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	75	44	.	.	ENST00000339488.4:c.1724T>A	p.Leu575Gln	p.L575Q	ENST00000339488	NM_001013732.3	575	cTg/cAg	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		119	2.085		HGNC	p.L575Q		PTCHD4		SNV							ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,47846856,A,T&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460		L/Q		T	medium	1758/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=401&re=600&var=L575Q	deleterious(0)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Leu575Gln,ENST00000339488,NM_001013732.3;							MODERATE	1724/2541	L575Q	PTHD4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000341914		CCDS34473.2			1	
SPATA16	0	LGGM	GRCh37	3	172835326	172835326	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061095	H061095N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	79	47	.	.	ENST00000351008.3:c.196A>G	p.Thr66Ala	p.T66A	ENST00000351008	NM_031955.5	66	Aca/Gca	0	1	1	UPI000013D9BF	0	NA	ENST00000351008		ENSG00000144962	29935		126	0.145		HGNC	p.T66A		SPATA16		SNV			1				ENST00000351008	protein_coding	getma.org/?cm=var&var=hg19,3,172835326,T,C&fts=all		Pfam_domain:PF15015		T/A		C	neutral	380/2106		getma.org/?cm=msa&ty=f&p=SPT16_HUMAN&rb=1&re=566&var=T66A	tolerated(1)				YES	SPATA16,missense_variant,p.Thr66Ala,ENST00000351008,NM_031955.5;							MODERATE	196/1710	T66A	SPT16_HUMAN			Transcript		benign(0.388)	.	ENSP00000341765		CCDS3221.1			1	
CRX	0	LGGM	GRCh37	19	48342593	48342593	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	68	50	.	.	ENST00000221996.7:c.269G>A	p.Arg90Gln	p.R90Q	ENST00000221996	NM_000554.4	90	cGg/cAg	0	1	1	UPI00001284E0	0	getma.org/pdb.php?prot=CRX_HUMAN&from=40&to=96&var=R90Q	ENST00000221996		ENSG00000105392	2383		118	3.05		HGNC	p.R90Q		CRX		SNV			1				ENST00000557738	protein_coding	getma.org/?cm=var&var=hg19,19,48342593,G,A&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF271,SMART_domains:SM00389,Superfamily_domains:SSF46689		R/Q		A	medium	475/4469		getma.org/?cm=msa&ty=f&p=CRX_HUMAN&rb=40&re=96&var=R90Q	deleterious(0)	Q0QD45_HUMAN,H3BUU7_HUMAN,A4GUB7_HUMAN			YES	CRX,missense_variant,p.Arg90Gln,ENST00000221996,NM_000554.4;CRX,missense_variant,p.Arg90Gln,ENST00000539067,;TPRX2P,intron_variant,,ENST00000535362,;CRX,downstream_gene_variant,,ENST00000566686,;CRX,upstream_gene_variant,,ENST00000602001,;CRX,downstream_gene_variant,,ENST00000556527,;							MODERATE	269/900	R90Q	CRX_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000221996		CCDS12706.1			1	
GPR98	0	LGGM	GRCh37	5	90024493	90024493	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	93	54	.	.	ENST00000405460.2:c.10169G>C	p.Arg3390Thr	p.R3390T	ENST00000405460	NM_032119.3	3390	aGg/aCg	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		147	1.935		HGNC	p.R3390T		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90024493,G,C&fts=all		PROSITE_profiles:PS50912,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		R/T		C	medium	10265/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=3249&re=3393&var=R3390T					YES	GPR98,missense_variant,p.Arg3390Thr,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Arg956Thr,ENST00000509621,;							MODERATE	10169/18921	R3390T	GPR98_HUMAN			Transcript		benign(0.04)	.	ENSP00000384582		CCDS47246.1			1	
PSG6	0	LGGM	GRCh37	19	43420338	43420338	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061095	H061095N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	117	59	.	.	ENST00000292125.2:c.366C>G	p.His122Gln	p.H122Q	ENST00000292125	NM_002782.4	122	caC/caG	0	1	1	UPI00001327A1	0	getma.org/pdb.php?prot=PSG6_HUMAN&from=31&to=139&var=H122Q	ENST00000292125		ENSG00000170848	9523		176	-0.53		HGNC	p.H122Q		PSG6		SNV							ENST00000402603	protein_coding	getma.org/?cm=var&var=hg19,19,43420338,G,C&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF126,hmmpanther:PTHR19955		H/Q		C	neutral	411/1391		getma.org/?cm=msa&ty=f&p=PSG6_HUMAN&rb=31&re=139&var=H122Q	tolerated(1)				YES	PSG6,missense_variant,p.His51Gln,ENST00000601833,;PSG6,missense_variant,p.His122Gln,ENST00000187910,NM_001031850.3;PSG6,missense_variant,p.His122Gln,ENST00000402603,;PSG6,missense_variant,p.His122Gln,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,;							MODERATE	366/1308	H122Q	PSG6_HUMAN			Transcript		benign(0.096)	.	ENSP00000292125		CCDS12613.1			1	
PHLPP1	0	LGGM	GRCh37	18	60570226	60570226	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	72	62	.	.	ENST00000262719.5:c.2474A>T	p.Asp825Val	p.D825V	ENST00000262719		825	gAt/gTt	0	1	1	UPI000051AE2E	0	getma.org/pdb.php?prot=PHLP1_HUMAN&from=773&to=917&var=D825V	ENST00000262719		ENSG00000081913	20610		134	1.455		HGNC	p.D825V		PHLPP1		SNV							ENST00000262719	protein_coding	getma.org/?cm=var&var=hg19,18,60570226,A,T&fts=all		Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF252,hmmpanther:PTHR23155		D/V		T	low	2708/6390		getma.org/?cm=msa&ty=f&p=PHLP1_HUMAN&rb=773&re=917&var=D825V	deleterious(0.05)				YES	PHLPP1,missense_variant,p.Asp313Val,ENST00000400316,NM_194449.3;PHLPP1,missense_variant,p.Asp825Val,ENST00000262719,;PHLPP1,upstream_gene_variant,,ENST00000591386,;PHLPP1,upstream_gene_variant,,ENST00000591106,;							MODERATE	2474/5154	D825V	PHLP1_HUMAN			Transcript		benign(0.266)	.	ENSP00000262719		CCDS45881.2			1	
ZAN	0	LGGM	GRCh37	7	100350099	100350099	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061095	H061095N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061095N.bam, H061095T.bam	Illumina HiSeq	195	88	.	.	ENST00000546292.1:c.2371A>T	p.Thr791Ser	p.T791S	ENST00000546292	NM_173059.1	791	Aca/Tca	0	1	1	UPI00004575C6	0	NA	ENST00000546292		ENSG00000146839	12857		283	1.295		HGNC	p.T791S		ZAN		SNV							ENST00000546292	protein_coding	getma.org/?cm=var&var=hg19,7,100350099,A,T&fts=all		Low_complexity_(Seg):seg		T/S		T	low	2519/8375		getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=561&re=999&var=T791S		F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Thr791Ser,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Thr791Ser,ENST00000538115,;ZAN,missense_variant,p.Thr791Ser,ENST00000546292,NM_173059.1;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Thr791Ser,ENST00000427578,;ZAN,missense_variant,p.Thr791Ser,ENST00000449052,;ZAN,missense_variant,p.Thr791Ser,ENST00000349350,;ZAN,missense_variant,p.Thr791Ser,ENST00000443370,;ZAN,missense_variant,p.Thr791Ser,ENST00000421100,;ZAN,missense_variant,p.Thr791Ser,ENST00000348028,;							MODERATE	2371/8163	T791S				Transcript		unknown(0)	.	ENSP00000445943					1	
ZNF236	0	LGGM	GRCh37	18	74607229	74607229	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	2	.	.	ENST00000253159.8:c.1672C>G	p.Arg558Gly	p.R558G	ENST00000253159	NM_007345.3	558	Cgc/Ggc	0	1	1	UPI0000F6DCCB	0	getma.org/pdb.php?prot=ZN236_HUMAN&from=552&to=577&var=R558G	ENST00000253159		ENSG00000130856	13028		20	2.625		HGNC	p.R560G		ZNF236		SNV							ENST00000320610	protein_coding	getma.org/?cm=var&var=hg19,18,74607229,C,G&fts=all		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		R/G		G	medium	1870/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=532&re=597&var=R558G	deleterious(0)				YES	ZNF236,missense_variant,p.Arg558Gly,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Arg560Gly,ENST00000320610,;ZNF236,upstream_gene_variant,,ENST00000584565,;ZNF236,missense_variant,p.Arg558Gly,ENST00000543926,;ZNF236,non_coding_transcript_exon_variant,,ENST00000583488,;							MODERATE	1672/5538	R558G	ZN236_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000253159		CCDS42447.1			1	
PEX5	0	LGGM	GRCh37	12	7351653	7351653	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	5	2	.	.	ENST00000434354.2:c.540G>A	p.Glu180=	p.E180=	ENST00000434354	NM_001131023.1	180	gaG/gaA	0	1		UPI000016AE82	0		ENST00000420616		ENSG00000139197	9719		7			HGNC	p.E165E		PEX5		SNV			1				ENST00000542539	protein_coding			hmmpanther:PTHR10130,hmmpanther:PTHR10130:SF2		E		A		1013/2477				F5H432_HUMAN,F5H3X7_HUMAN,F5H205_HUMAN,F5H0L9_HUMAN,F5GZ41_HUMAN,F5GYB4_HUMAN,F5GXX3_HUMAN				PEX5,synonymous_variant,p.=,ENST00000266563,NM_001131024.1;PEX5,synonymous_variant,p.=,ENST00000266564,NM_000319.4;PEX5,synonymous_variant,p.=,ENST00000455147,NM_001131026.1;PEX5,synonymous_variant,p.=,ENST00000420616,NM_001131025.1;PEX5,synonymous_variant,p.=,ENST00000434354,NM_001131023.1;PEX5,synonymous_variant,p.=,ENST00000412720,;PEX5,synonymous_variant,p.=,ENST00000396637,;PEX5,synonymous_variant,p.=,ENST00000545574,;PEX5,synonymous_variant,p.=,ENST00000542539,;PEX5,synonymous_variant,p.=,ENST00000536883,;PEX5,synonymous_variant,p.=,ENST00000545845,;PEX5,synonymous_variant,p.=,ENST00000543974,;PEX5,intron_variant,,ENST00000537873,;PEX5,intron_variant,,ENST00000545220,;PEX5,non_coding_transcript_exon_variant,,ENST00000539304,;							LOW	495/1920		PEX5_HUMAN			Transcript			.	ENSP00000410159		CCDS44823.1			1	
PDK2	0	LGGM	GRCh37	17	48172882	48172882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	6	2	.	.	ENST00000503176.1:c.83C>A	p.Pro28Gln	p.P28Q	ENST00000503176	NM_002611.4	28	cCg/cAg	0	1	1	UPI000000D98D	0	getma.org/pdb.php?prot=PDK2_HUMAN&from=1&to=28&var=P28Q	ENST00000503176		ENSG00000005882	8810		8	1.895		HGNC	p.P28Q	COSM706990	PDK2		SNV						1	ENST00000503176	protein_coding	getma.org/?cm=var&var=hg19,17,48172882,C,A&fts=all		hmmpanther:PTHR11947:SF15,hmmpanther:PTHR11947,Gene3D:1.20.140.20,Superfamily_domains:SSF69012		P/Q		A	low	244/3440		getma.org/?cm=msa&ty=f&p=PDK2_HUMAN&rb=1&re=58&var=P28Q	deleterious(0.04)	D6RJH7_HUMAN,D6RHG2_HUMAN,D6RGV8_HUMAN,D6RDN9_HUMAN,D6R983_HUMAN			YES	PDK2,missense_variant,p.Pro28Gln,ENST00000503176,NM_002611.4;PDK2,intron_variant,,ENST00000007708,NM_001199898.1,NM_001199899.1;PDK2,intron_variant,,ENST00000503614,;PDK2,intron_variant,,ENST00000508030,;PDK2,upstream_gene_variant,,ENST00000505440,;PDK2,upstream_gene_variant,,ENST00000512238,;PDK2,upstream_gene_variant,,ENST00000511026,;PDK2,non_coding_transcript_exon_variant,,ENST00000505897,;PDK2,non_coding_transcript_exon_variant,,ENST00000508960,;PDK2,upstream_gene_variant,,ENST00000515040,;					1		MODERATE	83/1224	P28Q	PDK2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000420927		CCDS11559.1			1	
TNFRSF21	0	LGGM	GRCh37	6	47202482	47202482	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	4	2	.	.	ENST00000296861.2:c.1662G>T	p.Ser554=	p.S554=	ENST00000296861	NM_014452.4	554	tcG/tcT	0	1	1	UPI000004680F	0		ENST00000296861		ENSG00000146072	13469		6			HGNC	p.S554S		TNFRSF21		SNV							ENST00000296861	protein_coding			hmmpanther:PTHR23097:SF99,hmmpanther:PTHR23097		S		A		2056/3595							YES	TNFRSF21,synonymous_variant,p.=,ENST00000296861,NM_014452.4;							LOW	1662/1968		TNR21_HUMAN			Transcript			.	ENSP00000296861		CCDS4921.1			1	
AVPI1	0	LGGM	GRCh37	10	99439627	99439627	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	6	2	.	.	ENST00000370626.3:c.36C>T	p.Pro12=	p.P12=	ENST00000370626	NM_021732.2	12	ccC/ccT	0	1	1	UPI000013CA70	0		ENST00000370626		ENSG00000119986	30898		8			HGNC	p.P12P		AVPI1		SNV							ENST00000370626	protein_coding			Pfam_domain:PF15063,hmmpanther:PTHR14350		P		A		604/1457							YES	AVPI1,synonymous_variant,p.=,ENST00000370626,NM_021732.2;PI4K2A,downstream_gene_variant,,ENST00000370631,NM_018425.2;							LOW	36/444		AVPI1_HUMAN			Transcript			.	ENSP00000359660		CCDS7470.1			1	
MAN2A2	0	LGGM	GRCh37	15	91456955	91456955	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	4	2	.	.	ENST00000360468.3:c.2830C>A	p.Gln944Lys	p.Q944K	ENST00000360468	NM_006122.2	944	Cag/Aag	0	1	1	UPI0000408EF0	0	getma.org/pdb.php?prot=MA2A2_HUMAN&from=890&to=1135&var=Q944K	ENST00000360468		ENSG00000196547	6825		6	3.06		HGNC	p.P933Q		MAN2A2		SNV							ENST00000560451	protein_coding	getma.org/?cm=var&var=hg19,15,91456955,C,A&fts=all		Superfamily_domains:SSF74650,Pfam_domain:PF07748,Gene3D:2.70.98.30,hmmpanther:PTHR11607:SF24,hmmpanther:PTHR11607		Q/K		A	medium	2848/6268		getma.org/?cm=msa&ty=f&p=MA2A2_HUMAN&rb=890&re=1135&var=Q944K	deleterious(0)	H0YNC8_HUMAN,H0YMU0_HUMAN,H0YL67_HUMAN,H0YK77_HUMAN,B7ZA35_HUMAN			YES	MAN2A2,missense_variant,p.Gln944Lys,ENST00000360468,NM_006122.2;MAN2A2,missense_variant,p.Gln944Lys,ENST00000559717,;MAN2A2,missense_variant,p.Gln587Lys,ENST00000557865,;MAN2A2,missense_variant,p.Gln452Lys,ENST00000431652,;MAN2A2,missense_variant,p.Gln134Lys,ENST00000430376,;MAN2A2,missense_variant,p.Gln118Lys,ENST00000557990,;MAN2A2,missense_variant,p.Gln76Lys,ENST00000560147,;MAN2A2,downstream_gene_variant,,ENST00000560616,;MAN2A2,downstream_gene_variant,,ENST00000558171,;MAN2A2,upstream_gene_variant,,ENST00000558538,;MAN2A2,upstream_gene_variant,,ENST00000560926,;MAN2A2,upstream_gene_variant,,ENST00000559558,;MAN2A2,downstream_gene_variant,,ENST00000561240,;MAN2A2,missense_variant,p.Pro933Gln,ENST00000560451,;MAN2A2,missense_variant,p.Gln154Lys,ENST00000561448,;MAN2A2,3_prime_UTR_variant,,ENST00000558161,;MAN2A2,downstream_gene_variant,,ENST00000560192,;MAN2A2,downstream_gene_variant,,ENST00000561047,;MAN2A2,downstream_gene_variant,,ENST00000559374,;MAN2A2,upstream_gene_variant,,ENST00000558374,;MAN2A2,upstream_gene_variant,,ENST00000560880,;MAN2A2,downstream_gene_variant,,ENST00000560505,;MAN2A2,upstream_gene_variant,,ENST00000559341,;							MODERATE	2830/3453	Q944K	MA2A2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000353655		CCDS32332.1			1	
CDH22	0	LGGM	GRCh37	20	44806766	44806766	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	3	2	.	.	ENST00000372262.3:c.1734C>A	p.Pro578=	p.P578=	ENST00000372262		578	ccC/ccA	0	1	1	UPI0000126DC0	0		ENST00000372262		ENSG00000149654	13251		5			HGNC	p.P578P		CDH22		SNV							ENST00000537909	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF88,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		P		T		2135/3661				Q49AS4_HUMAN			YES	CDH22,synonymous_variant,p.=,ENST00000372262,;CDH22,synonymous_variant,p.=,ENST00000537909,NM_021248.2;							LOW	1734/2487		CAD22_HUMAN			Transcript			.	ENSP00000361336		CCDS13395.1			1	
CDC34	0	LGGM	GRCh37	19	541537	541537	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	4	2	.	.	ENST00000215574.4:c.696C>A	p.Gly232=	p.G232=	ENST00000215574	NM_004359.1	232	ggC/ggA	0	1	1	UPI000013795A	0		ENST00000215574		ENSG00000099804	1734		6			HGNC	p.G232G		CDC34		SNV							ENST00000215574	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24067:SF98,hmmpanther:PTHR24067		G		A		914/1469							YES	CDC34,synonymous_variant,p.=,ENST00000215574,NM_004359.1;CDC34,synonymous_variant,p.=,ENST00000586283,;CDC34,synonymous_variant,p.=,ENST00000607527,;CDC34,3_prime_UTR_variant,,ENST00000606136,;CDC34,3_prime_UTR_variant,,ENST00000606065,;CDC34,3_prime_UTR_variant,,ENST00000593036,;GZMM,upstream_gene_variant,,ENST00000264553,NM_001258351.1,NM_005317.3;GZMM,upstream_gene_variant,,ENST00000592501,;CDC34,downstream_gene_variant,,ENST00000607629,;CDC34,intron_variant,,ENST00000606400,;CDC34,downstream_gene_variant,,ENST00000586788,;							LOW	696/711		UB2R1_HUMAN			Transcript			.	ENSP00000215574		CCDS12030.1			1	
ULK1	0	LGGM	GRCh37	12	132394366	132394366	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	4	2	.	.	ENST00000321867.4:c.713C>A	p.Thr238Lys	p.T238K	ENST00000321867	NM_003565.2	238	aCg/aAg	0	1	1	UPI00001FB0D9	0	getma.org/pdb.php?prot=ULK1_HUMAN&from=16&to=278&var=T238K	ENST00000321867		ENSG00000177169	12558		6	0.44		HGNC	p.T155K		ULK1		SNV							ENST00000537421	protein_coding	getma.org/?cm=var&var=hg19,12,132394366,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24348:SF19,hmmpanther:PTHR24348,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000580,SMART_domains:SM00220,Superfamily_domains:SSF56112		T/K		A	neutral	1064/5310		getma.org/?cm=msa&ty=f&p=ULK1_HUMAN&rb=16&re=278&var=T238K	deleterious(0.05)	F5H4E9_HUMAN,F5H1S7_HUMAN,F5GZQ0_HUMAN			YES	ULK1,missense_variant,p.Thr238Lys,ENST00000321867,NM_003565.2;ULK1,missense_variant,p.Thr155Lys,ENST00000537421,;ULK1,downstream_gene_variant,,ENST00000542313,;							MODERATE	713/3153	T238K	ULK1_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000324560		CCDS9274.1			1	
CIITA	0	LGGM	GRCh37	16	11001235	11001235	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	2	.	.	ENST00000324288.8:c.1886A>G	p.Glu629Gly	p.E629G	ENST00000324288	NM_000246.3	629	gAg/gGg	0	1	1	UPI0000456914	0	NA	ENST00000324288		ENSG00000179583	7067		15	-0.085		HGNC	p.E629G		CIITA		SNV			1				ENST00000324288	protein_coding	getma.org/?cm=var&var=hg19,16,11001235,A,G&fts=all		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF104		E/G		G	neutral	2019/9438		getma.org/?cm=msa&ty=f&p=C2TA_HUMAN&rb=414&re=724&var=E629G	tolerated(0.4)	I3L2E5_HUMAN			YES	CIITA,missense_variant,p.Glu629Gly,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,intron_variant,,ENST00000381835,NM_001286403.1;CIITA,intron_variant,,ENST00000537380,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;CIITA,downstream_gene_variant,,ENST00000571186,;							MODERATE	1886/3393	E629G	C2TA_HUMAN			Transcript		benign(0)	.	ENSP00000316328		CCDS10544.1			1	
PLEKHN1	0	LGGM	GRCh37	1	906323	906323	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	1	2	.	.	ENST00000379410.3:c.549C>A	p.Tyr183Ter	p.Y183*	ENST00000379410	NM_032129.2	183	taC/taA	0	1		UPI0000D61E06	0	NA	ENST00000379409		ENSG00000187583	25284		3	0		HGNC	p.Y223X		PLEKHN1		SNV							ENST00000379409	protein_coding	getma.org/?cm=var&var=hg19,1,906323,C,A&fts=all		SMART_domains:SM00233,Gene3D:2.30.29.30		Y/*		A	NA	699/2455		NA		J3KSM5_HUMAN				PLEKHN1,stop_gained,p.Tyr223Ter,ENST00000379409,;PLEKHN1,stop_gained,p.Tyr183Ter,ENST00000379410,NM_032129.2;PLEKHN1,stop_gained,p.Tyr183Ter,ENST00000379407,NM_001160184.1;C1orf170,downstream_gene_variant,,ENST00000433179,;C1orf170,downstream_gene_variant,,ENST00000341290,;PLEKHN1,upstream_gene_variant,,ENST00000491024,;PLEKHN1,non_coding_transcript_exon_variant,,ENST00000480267,;C1orf170,downstream_gene_variant,,ENST00000479361,;							HIGH	669/1992	Y223*	PKHN1_HUMAN			Transcript			.	ENSP00000368719					1	
TRMT1	0	LGGM	GRCh37	19	13218454	13218454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	10	2	.	.	ENST00000592062.1:c.1517G>T	p.Cys506Phe	p.C506F	ENST00000592062		506	tGt/tTt	0	1		UPI0000000A02	0	NA	ENST00000357720		ENSG00000104907	25980		12	0.69		HGNC	p.C506F		TRMT1		SNV							ENST00000437766	protein_coding	getma.org/?cm=var&var=hg19,19,13218454,C,A&fts=all		hmmpanther:PTHR10631,hmmpanther:PTHR10631:SF3		C/F		A	neutral	1646/2142		getma.org/?cm=msa&ty=f&p=TRM1_HUMAN&rb=501&re=600&var=C506F	tolerated(0.28)	K7EQY6_HUMAN,K7EJX9_HUMAN,B4E3A3_HUMAN,B4DHS5_HUMAN				TRMT1,missense_variant,p.Cys506Phe,ENST00000592062,;TRMT1,missense_variant,p.Cys506Phe,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Cys477Phe,ENST00000221504,NM_001142554.1;TRMT1,missense_variant,p.Cys506Phe,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,;TRMT1,non_coding_transcript_exon_variant,,ENST00000585435,;LYL1,upstream_gene_variant,,ENST00000590120,;TRMT1,downstream_gene_variant,,ENST00000587633,;TRMT1,downstream_gene_variant,,ENST00000586830,;							MODERATE	1517/1980	C506F	TRM1_HUMAN			Transcript		benign(0.001)	.	ENSP00000350352		CCDS12293.1			1	
SORBS2	0	LGGM	GRCh37	4	186544758	186544758	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	2	.	.	ENST00000355634.5:c.2113T>C	p.Ser705Pro	p.S705P	ENST00000355634	NM_001270771.1	705	Tcc/Ccc	0	1		UPI0000070F00	0	NA	ENST00000284776		ENSG00000154556	24098		20	1.845		HGNC	p.S605P		SORBS2		SNV							ENST00000284776	protein_coding	getma.org/?cm=var&var=hg19,4,186544758,A,G&fts=all		hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122		S/P		G	low	2323/5996		getma.org/?cm=msa&ty=f&p=SRBS2_HUMAN&rb=517&re=716&var=S605P	deleterious(0)	C9JL62_HUMAN,C9JBR8_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9IZ89_HUMAN				SORBS2,missense_variant,p.Ser605Pro,ENST00000431808,;SORBS2,missense_variant,p.Ser605Pro,ENST00000284776,NM_021069.4;SORBS2,missense_variant,p.Ser509Pro,ENST00000418609,NM_001145674.1,NM_001145675.1;SORBS2,missense_variant,p.Ser705Pro,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,;							MODERATE	1813/3303	S605P	SRBS2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000284776		CCDS3845.1			1	
AP1B1	0	LGGM	GRCh37	22	29750745	29750745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	7	2	.	.	ENST00000357586.2:c.832G>T	p.Gly278Cys	p.G278C	ENST00000357586	NM_001127.3	278	Ggc/Tgc	0	1		UPI000013CED0	0	getma.org/pdb.php?prot=AP1B1_HUMAN&from=10&to=534&var=G278C	ENST00000405198		ENSG00000100280	554		9	0.55		HGNC	p.G278C		AP1B1		SNV							ENST00000432560	protein_coding	getma.org/?cm=var&var=hg19,22,29750745,C,A&fts=all		hmmpanther:PTHR11134:SF12,hmmpanther:PTHR11134,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,SMART_domains:SM00185,Superfamily_domains:SSF48371		G/C		A	neutral	864/3838		getma.org/?cm=msa&ty=f&p=AP1B1_HUMAN&rb=10&re=534&var=G278C	deleterious(0.03)	C9J1E7_HUMAN				AP1B1,missense_variant,p.Gly278Cys,ENST00000357586,NM_001127.3;AP1B1,missense_variant,p.Gly278Cys,ENST00000356015,;AP1B1,missense_variant,p.Gly278Cys,ENST00000432560,NM_145730.2;AP1B1,missense_variant,p.Gly278Cys,ENST00000317368,NM_001166019.1;AP1B1,missense_variant,p.Gly278Cys,ENST00000405198,;AP1B1,missense_variant,p.Gly278Cys,ENST00000402502,;AP1B1,missense_variant,p.Gly278Cys,ENST00000415447,;AP1B1,missense_variant,p.Gly278Cys,ENST00000421126,;AP1B1,upstream_gene_variant,,ENST00000415756,;AP1B1,downstream_gene_variant,,ENST00000473606,;							MODERATE	832/2850	G278C	AP1B1_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000384194		CCDS13855.1			1	
TMPRSS3	0	LGGM	GRCh37	21	43800322	43800322	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	10	3	.	.	ENST00000291532.3:c.953-1G>A		p.X318_splice	ENST00000291532	NM_032404.2			0	1	1	UPI0000047B13	0		ENST00000291532		ENSG00000160183	11877		13			HGNC	-		TMPRSS3		SNV			1				ENST00000291532	protein_coding							T		-/3193							YES	TMPRSS3,splice_acceptor_variant,,ENST00000291532,NM_032404.2;TMPRSS3,splice_acceptor_variant,,ENST00000380399,;TMPRSS3,splice_acceptor_variant,,ENST00000398405,;TMPRSS3,splice_acceptor_variant,,ENST00000433957,NM_001256317.1,NM_024022.2;TMPRSS3,downstream_gene_variant,,ENST00000398397,NM_032405.1;TMPRSS3,splice_acceptor_variant,,ENST00000474596,;TMPRSS3,downstream_gene_variant,,ENST00000478680,;TMPRSS3,splice_acceptor_variant,,ENST00000476848,;TMPRSS3,splice_acceptor_variant,,ENST00000482761,;							HIGH	953/1365		TMPS3_HUMAN			Transcript			.	ENSP00000291532		CCDS13686.1			1	
PAPD5	0	LGGM	GRCh37	16	50261892	50261892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	29	3	.	.	ENST00000436909.3:c.1898C>A	p.Ser633Tyr	p.S633Y	ENST00000436909	NM_001040285.2	633	tCc/tAc	0	1	1	UPI00017A7DC6	0	NA	ENST00000436909		ENSG00000121274	30758		32	0.69		HGNC	p.S554Y		PAPD5		SNV							ENST00000357464	protein_coding	getma.org/?cm=var&var=hg19,16,50261892,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF26		S/Y		A	neutral	1933/4635		getma.org/?cm=msa&ty=f&p=PAPD5_HUMAN&rb=369&re=568&var=S507Y	deleterious_low_confidence(0.02)	Q5EBM7_HUMAN,G4U4J3_HUMAN,B7ZLC1_HUMAN,B4DRJ7_HUMAN			YES	PAPD5,missense_variant,p.Ser554Tyr,ENST00000357464,;PAPD5,missense_variant,p.Ser633Tyr,ENST00000436909,NM_001040285.2,NM_001040284.2;PAPD5,missense_variant,p.Ser523Tyr,ENST00000561678,;PAPD5,non_coding_transcript_exon_variant,,ENST00000573002,;PAPD5,non_coding_transcript_exon_variant,,ENST00000562717,;							MODERATE	1898/2097	S507Y	PAPD5_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000396995		CCDS54006.1			1	
SCN10A	0	LGGM	GRCh37	3	38797377	38797377	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	44	3	.	.	ENST00000449082.2:c.1363G>T	p.Ala455Ser	p.A455S	ENST00000449082	NM_006514.2	455	Gcc/Tcc	0	1	1	UPI0000209BDA	0	NA	ENST00000449082		ENSG00000185313	10582		47	1.085		HGNC	p.A455S		SCN10A		SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38797377,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23		A/S		A	low	1363/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=397&re=596&var=A455S	tolerated(0.43)				YES	SCN10A,missense_variant,p.Ala455Ser,ENST00000449082,NM_006514.2;							MODERATE	1363/5871	A455S	SCNAA_HUMAN			Transcript		benign(0.015)	.	ENSP00000390600		CCDS33736.1			1	
ZNF827	0	LGGM	GRCh37	4	146807082	146807082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	27	3	.	.	ENST00000379448.4:c.1495G>T	p.Gly499Trp	p.G499W	ENST00000379448	NM_178835.3	499	Ggg/Tgg	0	1		UPI0000DA58F8	0	NA	ENST00000508784		ENSG00000151612	27193		30	0.55		HGNC	p.G499W		ZNF827		SNV							ENST00000379448	protein_coding	getma.org/?cm=var&var=hg19,4,146807082,C,A&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4		G/W		A	neutral	1723/7463		getma.org/?cm=msa&ty=f&p=ZN827_HUMAN&rb=486&re=544&var=G499W	deleterious(0)					ZNF827,missense_variant,p.Gly499Trp,ENST00000508784,;ZNF827,missense_variant,p.Gly499Trp,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Gly149Trp,ENST00000513320,;ZNF827,intron_variant,,ENST00000508995,;ZNF827,upstream_gene_variant,,ENST00000513840,;							MODERATE	1495/3246	G499W	ZN827_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000421863					1	
CYB5R2	0	LGGM	GRCh37	11	7687704	7687704	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	3	.	.	ENST00000533558.1:c.636C>A	p.Tyr212Ter	p.Y212*	ENST00000533558		212	taC/taA	0	1		UPI000013E5AB	0	NA	ENST00000299498		ENSG00000166394	24376		16	0		HGNC	p.Y212X		CYB5R2		SNV							ENST00000299498	protein_coding	getma.org/?cm=var&var=hg19,11,7687704,G,T&fts=all		Superfamily_domains:SSF52343,Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF80		Y/*		T	NA	785/1254		NA		E9PRM4_HUMAN,E9PMI2_HUMAN,E9PIV9_HUMAN				CYB5R2,stop_gained,p.Tyr212Ter,ENST00000533558,;CYB5R2,stop_gained,p.Tyr212Ter,ENST00000524790,;CYB5R2,stop_gained,p.Tyr212Ter,ENST00000299498,NM_016229.3;CYB5R2,stop_gained,p.Tyr212Ter,ENST00000299497,;CYB5R2,downstream_gene_variant,,ENST00000531096,;CYB5R2,downstream_gene_variant,,ENST00000524608,;CYB5R2,downstream_gene_variant,,ENST00000527542,;CYB5R2,downstream_gene_variant,,ENST00000436351,;CYB5R2,intron_variant,,ENST00000528585,;CYB5R2,intron_variant,,ENST00000534698,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000526084,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000532621,;CYB5R2,downstream_gene_variant,,ENST00000534443,;CYB5R2,downstream_gene_variant,,ENST00000532920,;							HIGH	636/831	Y212*	NB5R2_HUMAN			Transcript			.	ENSP00000299498		CCDS7780.1			1	
P2RX2	0	LGGM	GRCh37	12	133198084	133198084	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	35	3	.	.	ENST00000343948.4:c.1020C>A	p.Pro340=	p.P340=	ENST00000343948	NM_001282165.1	340	ccC/ccA	0	1		UPI0000130FF3	0		ENST00000389110		ENSG00000187848	15459		38			HGNC	p.P340P		P2RX2		SNV			1				ENST00000389110	protein_coding			Pfam_domain:PF00864,TIGRFAM_domain:TIGR00863,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF4		P		A		1057/1867								P2RX2,synonymous_variant,p.=,ENST00000389110,NM_170682.2,NM_170683.2,NM_174873.1;P2RX2,synonymous_variant,p.=,ENST00000343948,NM_001282165.1;P2RX2,synonymous_variant,p.=,ENST00000350048,NM_016318.2;P2RX2,synonymous_variant,p.=,ENST00000348800,;P2RX2,synonymous_variant,p.=,ENST00000352418,NM_012226.3;P2RX2,synonymous_variant,p.=,ENST00000351222,NM_174872.1;P2RX2,synonymous_variant,p.=,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,;							LOW	1020/1416		P2RX2_HUMAN			Transcript			.	ENSP00000373762		CCDS31931.1			1	
KRT71	0	LGGM	GRCh37	12	52942562	52942562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	35	3	.	.	ENST00000267119.5:c.736G>T	p.Ala246Ser	p.A246S	ENST00000267119	NM_033448.2	246	Gcc/Tcc	0	1	1	UPI0000052B57	0	getma.org/pdb.php?prot=K2C71_HUMAN&from=129&to=442&var=A246S	ENST00000267119		ENSG00000139648	28927		38	0.205		HGNC	p.A246S		KRT71		SNV			1				ENST00000267119	protein_coding	getma.org/?cm=var&var=hg19,12,52942562,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF116		A/S		A	neutral	806/2265		getma.org/?cm=msa&ty=f&p=K2C71_HUMAN&rb=129&re=442&var=A246S	deleterious(0)				YES	KRT71,missense_variant,p.Ala246Ser,ENST00000267119,NM_033448.2;							MODERATE	736/1572	A246S	K2C71_HUMAN			Transcript		benign(0.36)	.	ENSP00000267119		CCDS8831.1			1	
C1QTNF3	0	LGGM	GRCh37	5	34033502	34033502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	32	3	.	.	ENST00000382065.3:c.477G>T	p.Lys159Asn	p.K159N	ENST00000382065	NM_181435.5	159	aaG/aaT	0	1		UPI0000001BFA	0	NA	ENST00000231338		ENSG00000082196	14326		35	1.88		HGNC	p.K86N		C1QTNF3		SNV							ENST00000231338	protein_coding	getma.org/?cm=var&var=hg19,5,34033502,C,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF76		K/N		A	low	346/1959		getma.org/?cm=msa&ty=f&p=C1QT3_HUMAN&rb=40&re=115&var=K86N	tolerated(0.18)					C1QTNF3,missense_variant,p.Lys159Asn,ENST00000382065,NM_181435.5;C1QTNF3,missense_variant,p.Lys86Asn,ENST00000231338,NM_030945.3;C1QTNF3,upstream_gene_variant,,ENST00000513065,;RP11-1084J3.4,missense_variant,p.Lys70Asn,ENST00000382079,;C1QTNF3,non_coding_transcript_exon_variant,,ENST00000508434,;C1QTNF3,upstream_gene_variant,,ENST00000513471,;							MODERATE	258/741	K86N	C1QT3_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000231338		CCDS3904.1			1	
PARL	0	LGGM	GRCh37	3	183558362	183558362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	3	.	.	ENST00000317096.4:c.824G>T	p.Gly275Val	p.G275V	ENST00000317096	NM_018622.5	275	gGt/gTt	0	1	1	UPI00000711C6	0	NA	ENST00000317096		ENSG00000175193	18253		16	4.345		HGNC	p.G225V		PARL		SNV							ENST00000435888	protein_coding	getma.org/?cm=var&var=hg19,3,183558362,C,A&fts=all		hmmpanther:PTHR22936,Gene3D:2xovA00,Pfam_domain:PF01694,Superfamily_domains:SSF144091		G/V		A	high	885/1414		getma.org/?cm=msa&ty=f&p=PARL_HUMAN&rb=201&re=353&var=G275V	deleterious(0)				YES	PARL,missense_variant,p.Gly275Val,ENST00000317096,NM_018622.5;PARL,missense_variant,p.Gly225Val,ENST00000311101,NM_001037639.1;PARL,missense_variant,p.Gly225Val,ENST00000435888,;PARL,missense_variant,p.Gly67Val,ENST00000417784,;PARL,missense_variant,p.Gly42Val,ENST00000418450,;PARL,missense_variant,p.Gly55Val,ENST00000450375,;PARL,missense_variant,p.Gly139Val,ENST00000449306,;PARL,3_prime_UTR_variant,,ENST00000421484,;PARL,non_coding_transcript_exon_variant,,ENST00000488202,;							MODERATE	824/1140	G275V	PARL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325421		CCDS3248.1			1	
CNOT11	0	LGGM	GRCh37	2	101869791	101869812	+	frameshift_variant	Frame_Shift_Del	DEL	CGCAGCGCCTCACGGCGCTCTA	CGCAGCGCCTCACGGCGCTCTA	-	novel	by Submitter	H061142	H061142N.bam	CGCAGCGCCTCACGGCGCTCTA	CGCAGCGCCTCACGGCGCTCTA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	1	3	.	.	ENST00000289382.3:c.366_387del	p.Gln123CysfsTer48	p.Q123Cfs*48	ENST00000289382	NM_017546.4	122	gCGCAGCGCCTCACGGCGCTCTAc/gc	0	1	1	UPI00000715FD	0		ENST00000289382		ENSG00000158435	25217		4			HGNC	p.122_129del		CNOT11		deletion							ENST00000289382	protein_coding			hmmpanther:PTHR15975		AQRLTALY/X		-		528-549/2599				B3KNB0_HUMAN			YES	CNOT11,frameshift_variant,p.Gln123CysfsTer48,ENST00000289382,NM_017546.4;TBC1D8,upstream_gene_variant,,ENST00000462819,;TBC1D8,upstream_gene_variant,,ENST00000463469,;TBC1D8,upstream_gene_variant,,ENST00000485851,;							HIGH	365-386/1533		CNO11_HUMAN			Transcript	1		.	ENSP00000289382		CCDS2050.1			1	
PAGR1	0	LGGM	GRCh37	16	29831040	29831040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	24	3	.	.	ENST00000320330.6:c.730G>T	p.Gly244Trp	p.G244W	ENST00000320330		244	Ggg/Tgg	0	1	1	UPI000006FAEB	0	NA	ENST00000320330		ENSG00000185928	28707		27	1.1		HGNC	p.G244W		PAGR1		SNV							ENST00000320330	protein_coding	getma.org/?cm=var&var=hg19,16,29831040,G,T&fts=all				G/W		T	low	1292/2011		getma.org/?cm=msa&ty=f&p=PA1_HUMAN&rb=81&re=253&var=G244W	deleterious(0.01)				YES	PAGR1,missense_variant,p.Gly244Trp,ENST00000320330,;PAGR1,missense_variant,p.Gly244Trp,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,;MVP,upstream_gene_variant,,ENST00000566066,;MVP,upstream_gene_variant,,ENST00000563558,;MVP,upstream_gene_variant,,ENST00000565164,;AC009133.12,intron_variant,,ENST00000569809,;AC009133.20,intron_variant,,ENST00000569039,;AC009133.12,intron_variant,,ENST00000564980,;MVP,upstream_gene_variant,,ENST00000565830,;PAGR1,missense_variant,p.Gly74Trp,ENST00000562285,;MVP,upstream_gene_variant,,ENST00000566859,;MVP,upstream_gene_variant,,ENST00000569887,;MVP,upstream_gene_variant,,ENST00000563096,;MVP,upstream_gene_variant,,ENST00000562463,;							MODERATE	730/765	G244W	PAGR1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000326519		CCDS10655.1			1	
BRD9	0	LGGM	GRCh37	5	878568	878568	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	23	3	.	.	ENST00000467963.1:c.1173G>A	p.Ser391=	p.S391=	ENST00000467963	NM_023924.4	391	tcG/tcA	0	1	1	UPI000020BEBE	0		ENST00000467963		ENSG00000028310	25818		26			HGNC	p.S391S	rs754796515,COSM178098,COSM1071058	BRD9		SNV						0,1,1	ENST00000467963	protein_coding			Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4		S		T		1340/2156	1.50E-05						YES	BRD9,synonymous_variant,p.=,ENST00000323510,;BRD9,synonymous_variant,p.=,ENST00000388890,;BRD9,synonymous_variant,p.=,ENST00000467963,NM_023924.4;BRD9,synonymous_variant,p.=,ENST00000483173,NM_001009877.2;BRD9,3_prime_UTR_variant,,ENST00000435709,;BRD9,non_coding_transcript_exon_variant,,ENST00000494422,;BRD9,non_coding_transcript_exon_variant,,ENST00000519838,;BRD9,synonymous_variant,p.=,ENST00000519112,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,3_prime_UTR_variant,,ENST00000466684,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;BRD9,non_coding_transcript_exon_variant,,ENST00000483234,;BRD9,non_coding_transcript_exon_variant,,ENST00000493082,;BRD9,non_coding_transcript_exon_variant,,ENST00000475706,;BRD9,upstream_gene_variant,,ENST00000523139,;BRD9,upstream_gene_variant,,ENST00000518251,;					0,1,1		LOW	1173/1794		BRD9_HUMAN			Transcript			.	ENSP00000419765	8.24E-06	CCDS34127.2			1	
TANC2	0	LGGM	GRCh37	17	61271378	61271378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	24	3	.	.	ENST00000424789.2:c.238C>A	p.Pro80Thr	p.P80T	ENST00000424789	NM_025185.3	80	Cct/Act	0	1	1	UPI00015D57DF	0	NA	ENST00000424789		ENSG00000170921	30212		27	0.895		HGNC	p.P80T		TANC2		SNV							ENST00000389520	protein_coding	getma.org/?cm=var&var=hg19,17,61271378,C,A&fts=all		hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166		P/T		A	low	242/11721		getma.org/?cm=msa&ty=f&p=TANC2_HUMAN&rb=53&re=818&var=P80T	deleterious_low_confidence(0)				YES	TANC2,missense_variant,p.Pro80Thr,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Pro9Thr,ENST00000583356,;TANC2,missense_variant,p.Pro80Thr,ENST00000389520,;TANC2,missense_variant,p.Pro131Thr,ENST00000580068,;TANC2,missense_variant,p.Pro90Thr,ENST00000580466,;AC037445.1,non_coding_transcript_exon_variant,,ENST00000581421,;AC037445.1,non_coding_transcript_exon_variant,,ENST00000435892,;							MODERATE	238/5973	P80T	TANC2_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000387593		CCDS45754.1			1	
DSTYK	0	LGGM	GRCh37	1	205180532	205180532	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	7	3	.	.	ENST00000367162.3:c.132C>T	p.Asn44=	p.N44=	ENST00000367162	NM_015375.2	44	aaC/aaT	0	1	1	UPI00001D7D39	0		ENST00000367162		ENSG00000133059	29043		10			HGNC	p.N44N	rs370254371	DSTYK		SNV	A:0.0002		1	0.000124			ENST00000367162	protein_coding			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54,Low_complexity_(Seg):seg		N	A:0	A		163/7874							YES	DSTYK,synonymous_variant,p.=,ENST00000367162,NM_015375.2;DSTYK,synonymous_variant,p.=,ENST00000367161,NM_199462.2;DSTYK,synonymous_variant,p.=,ENST00000367160,;							LOW	132/2790		DUSTY_HUMAN			Transcript			.	ENSP00000356130	8.26E-06	CCDS1451.1			1	
P2RY1	0	LGGM	GRCh37	3	152554154	152554154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	38	3	.	.	ENST00000305097.3:c.583C>T	p.Arg195Cys	p.R195C	ENST00000305097	NM_002563.3	195	Cgc/Tgc	0	1	1	UPI0000001C06	0	getma.org/pdb.php?prot=P2RY1_HUMAN&from=68&to=324&var=R195C	ENST00000305097		ENSG00000169860	8539		41	2.215		HGNC	p.R195C		P2RY1		SNV							ENST00000305097	protein_coding	getma.org/?cm=var&var=hg19,3,152554154,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF2,Superfamily_domains:SSF81321		R/C		T	medium	1419/3106		getma.org/?cm=msa&ty=f&p=P2RY1_HUMAN&rb=68&re=324&var=R195C	deleterious(0)				YES	P2RY1,missense_variant,p.Arg195Cys,ENST00000305097,NM_002563.3;RP11-38P22.2,upstream_gene_variant,,ENST00000460407,;							MODERATE	583/1122	R195C	P2RY1_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000304767		CCDS3169.1			1	
SEPT3	0	LGGM	GRCh37	22	42377840	42377840	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	1	3	.	.	ENST00000396426.3:c.202G>T	p.Gly68Cys	p.G68C	ENST00000396426	NM_145733.2	68	Ggc/Tgc	0	1	1	UPI000067DA91	0	getma.org/pdb.php?prot=SEPT3_HUMAN&from=58&to=335&var=G68C	ENST00000396426		ENSG00000100167	10750		4	4.385		HGNC	p.G68C		SEPT3		SNV							ENST00000396425	protein_coding	getma.org/?cm=var&var=hg19,22,42377840,G,T&fts=all		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF62,Gene3D:3.40.50.300,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540		G/C		T	high	457/2586		getma.org/?cm=msa&ty=f&p=SEPT3_HUMAN&rb=58&re=335&var=G68C	deleterious(0)	B1AHR2_HUMAN			YES	SEPT3,missense_variant,p.Gly68Cys,ENST00000396425,NM_019106.5;SEPT3,missense_variant,p.Gly68Cys,ENST00000396426,NM_145733.2;SEPT3,missense_variant,p.Ala68Ser,ENST00000328414,;SEPT3,missense_variant,p.Gly55Cys,ENST00000449288,;SEPT3,intron_variant,,ENST00000406029,;SEPT3,intron_variant,,ENST00000291236,;CTA-250D10.19,non_coding_transcript_exon_variant,,ENST00000424613,;SEPT3,missense_variant,p.Ala68Ser,ENST00000396417,;SEPT3,upstream_gene_variant,,ENST00000460267,;							MODERATE	202/1077	G68C	SEPT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379704		CCDS14026.2			1	
MGAT5B	0	LGGM	GRCh37	17	74934139	74934139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	42	3	.	.	ENST00000428789.2:c.1525C>A	p.Gln509Lys	p.Q509K	ENST00000428789	NM_198955.1	509	Cag/Aag	0	1		UPI00001BFAF5	0	NA	ENST00000569840		ENSG00000167889	24140		45	2.005		HGNC	p.Q509K		MGAT5B		SNV							ENST00000428789	protein_coding	getma.org/?cm=var&var=hg19,17,74934139,C,A&fts=all		hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024		Q/K		A	medium	2072/4492		getma.org/?cm=msa&ty=f&p=MGT5B_HUMAN&rb=1&re=790&var=Q500K	tolerated(0.39)	H3BR20_HUMAN				MGAT5B,missense_variant,p.Gln500Lys,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Gln498Lys,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Gln509Lys,ENST00000428789,NM_198955.1;MGAT5B,missense_variant,p.Pro465Gln,ENST00000565043,;							MODERATE	1498/2379	Q500K	MGT5B_HUMAN			Transcript		possibly_damaging(0.46)	.	ENSP00000456037		CCDS59299.1			1	
JAKMIP2	0	LGGM	GRCh37	5	147030055	147030055	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	31	3	.	.	ENST00000265272.5:c.683A>G	p.Glu228Gly	p.E228G	ENST00000265272	NM_014790.4	228	gAg/gGg	0	1	1	UPI000000D782	0	NA	ENST00000265272		ENSG00000176049	29067		34	0.38		HGNC	p.E186G		JAKMIP2		SNV							ENST00000333010	protein_coding	getma.org/?cm=var&var=hg19,5,147030055,T,C&fts=all		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7		E/G		C	neutral	1151/6001		getma.org/?cm=msa&ty=f&p=JKIP2_HUMAN&rb=1&re=803&var=E228G	tolerated(1)				YES	JAKMIP2,missense_variant,p.Glu228Gly,ENST00000265272,NM_014790.4,NM_001270941.1;JAKMIP2,missense_variant,p.Glu228Gly,ENST00000507386,NM_001270934.1;JAKMIP2,missense_variant,p.Glu186Gly,ENST00000333010,NM_001282282.1;JAKMIP2,intron_variant,,ENST00000507343,;							MODERATE	683/2433	E228G	JKIP2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000265272		CCDS4285.1			1	
SIM2	0	LGGM	GRCh37	21	38117342	38117342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	30	3	.	.	ENST00000290399.6:c.1481C>T	p.Ala494Val	p.A494V	ENST00000290399	NM_005069.3	494	gCc/gTc	0	1	1	UPI000013599A	0	NA	ENST00000290399		ENSG00000159263	10883		33	1.78		HGNC	p.A494V		SIM2		SNV							ENST00000290399	protein_coding	getma.org/?cm=var&var=hg19,21,38117342,C,T&fts=all		Pfam_domain:PF06621,PROSITE_profiles:PS51302,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF19		A/V		T	low	2094/4442		getma.org/?cm=msa&ty=f&p=SIM2_HUMAN&rb=358&re=661&var=A494V	deleterious_low_confidence(0.01)				YES	SIM2,missense_variant,p.Ala494Val,ENST00000290399,NM_005069.3;SIM2,missense_variant,p.Ala494Val,ENST00000430056,NM_009586.2;SIM2,missense_variant,p.Ala432Val,ENST00000431229,;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,;							MODERATE	1481/2004	A494V	SIM2_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000290399		CCDS13646.1			1	
ZKSCAN7	0	LGGM	GRCh37	3	44598742	44598742	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	31	3	.	.	ENST00000273320.3:c.203C>A	p.Pro68Gln	p.P68Q	ENST00000273320	NM_018651.2	68	cCg/cAg	0	1	1	UPI000013D9A9	0	getma.org/pdb.php?prot=ZN167_HUMAN&from=48&to=143&var=P68Q	ENST00000273320		ENSG00000196345	12955		34	3.7		HGNC	p.P68Q		ZKSCAN7		SNV							ENST00000418719	protein_coding	getma.org/?cm=var&var=hg19,3,44598742,C,A&fts=all		Pfam_domain:PF02023,PROSITE_profiles:PS50804,SMART_domains:SM00431,Superfamily_domains:SSF47353		P/Q		A	high	632/3477		getma.org/?cm=msa&ty=f&p=ZN167_HUMAN&rb=48&re=143&var=P68Q	deleterious(0)				YES	ZKSCAN7,missense_variant,p.Pro68Gln,ENST00000273320,NM_018651.2,NM_001288590.1;ZKSCAN7,missense_variant,p.Pro68Gln,ENST00000426540,;ZKSCAN7,missense_variant,p.Pro68Gln,ENST00000341840,NM_025169.1;ZKSCAN7,missense_variant,p.Pro68Gln,ENST00000431636,NM_001288591.1;ZKSCAN7,intron_variant,,ENST00000447279,NM_001288592.1;RP11-944L7.4,downstream_gene_variant,,ENST00000457331,;ZKSCAN7,missense_variant,p.Pro68Gln,ENST00000418719,;ZKSCAN7,upstream_gene_variant,,ENST00000496563,;							MODERATE	203/2265	P68Q	ZKSC7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000273320		CCDS2715.1			1	
CLEC3A	0	LGGM	GRCh37	16	78064561	78064561	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	31	3	.	.	ENST00000299642.4:c.444C>A	p.Gly148=	p.G148=	ENST00000299642	NM_001244755.1	148	ggC/ggA	0	1		UPI000004A9A6	0		ENST00000575655		ENSG00000166509	2052		34			HGNC	p.G139G		CLEC3A		SNV							ENST00000575655	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22799,hmmpanther:PTHR22799:SF2,SMART_domains:SM00034,Superfamily_domains:SSF56436		G		A		498/1931								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,;							LOW	417/594		CLC3A_HUMAN			Transcript			.	ENSP00000460682					1	
SPTB	0	LGGM	GRCh37	14	65216413	65216413	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	5	3	.	.	ENST00000389722.3:c.6778C>A	p.Leu2260Met	p.L2260M	ENST00000389722	NM_001024858.2	2260	Ctg/Atg	0	1	1	UPI000053030D	0	getma.org/pdb.php?prot=Q86TX9_HUMAN&from=91&to=200&var=L172M	ENST00000389722		ENSG00000070182	11274		8	2.405		HGNC	p.L2260M		SPTB		SNV			1				ENST00000389722	protein_coding	getma.org/?cm=var&var=hg19,14,65216413,G,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR11915:SF248,hmmpanther:PTHR11915,Pfam_domain:PF15410,Gene3D:2.30.29.30,PIRSF_domain:PIRSF002297,SMART_domains:SM00233,Superfamily_domains:SSF50729,Prints_domain:PR00683		L/M		T	medium	6832/10063		getma.org/?cm=msa&ty=f&p=Q86TX9_HUMAN&rb=91&re=200&var=L172M	tolerated(0.06)	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,Q59FP5_HUMAN,O14726_HUMAN,O14725_HUMAN			YES	SPTB,missense_variant,p.Leu2260Met,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Leu2260Met,ENST00000556626,;SPTB,missense_variant,p.Leu960Met,ENST00000553938,;PLEKHG3,downstream_gene_variant,,ENST00000247226,NM_015549.1;SPTB,splice_region_variant,,ENST00000342835,;SPTB,splice_region_variant,,ENST00000556227,;							MODERATE	6778/6987	L172M	SPTB1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000374372		CCDS32099.1			1	
SORCS3	0	LGGM	GRCh37	10	107015463	107015463	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	11	3	.	.	ENST00000369701.3:c.3241G>T	p.Val1081Leu	p.V1081L	ENST00000369701	NM_014978.1	1081	Gta/Tta	0	1	1	UPI0000135CE1	0	NA	ENST00000369701		ENSG00000156395	16699		14	1.61		HGNC	p.V1081L	rs765639768	SORCS3		SNV							ENST00000369701	protein_coding	getma.org/?cm=var&var=hg19,10,107015463,G,T&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10		V/L		T	low	3468/5757	1.51E-05	getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=905&re=1104&var=V1081L	tolerated(0.39)	B7Z891_HUMAN			YES	SORCS3,missense_variant,p.Val1081Leu,ENST00000369701,NM_014978.1;							MODERATE	3241/3669	V1081L	SORC3_HUMAN			Transcript		benign(0.101)	.	ENSP00000358715	8.24E-06	CCDS7558.1			1	
CACNA1D	0	LGGM	GRCh37	3	53842716	53842716	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	38	3	.	.	ENST00000288139.4:c.5850G>A	p.Arg1950=	p.R1950=	ENST00000288139	NM_000720.3	1950	cgG/cgA	0	1		UPI000013DEF4	0		ENST00000350061		ENSG00000157388	1391		41			HGNC	p.R1930R		CACNA1D		SNV			1				ENST00000350061	protein_coding					R		A		6301/7636								CACNA1D,synonymous_variant,p.=,ENST00000288139,NM_000720.3;CACNA1D,synonymous_variant,p.=,ENST00000350061,NM_001128840.2;CACNA1D,synonymous_variant,p.=,ENST00000422281,NM_001128839.2;CACNA1D,synonymous_variant,p.=,ENST00000481478,;CACNA1D,synonymous_variant,p.=,ENST00000544977,;CHDH,downstream_gene_variant,,ENST00000315251,NM_018397.4;							LOW	5790/6486		CAC1D_HUMAN			Transcript			.	ENSP00000288133		CCDS46848.1			1	
KANSL1	0	LGGM	GRCh37	17	44117134	44117134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	46	4	.	.	ENST00000262419.6:c.2137G>T	p.Gly713Cys	p.G713C	ENST00000262419	NM_001193466.1	713	Ggc/Tgc	0	1		UPI0001AE66EA	0	NA	ENST00000574590		ENSG00000120071	24565		50	0.205		HGNC	p.G70C		KANSL1		SNV			1				ENST00000393476	protein_coding	getma.org/?cm=var&var=hg19,17,44117134,C,A&fts=all		hmmpanther:PTHR22443,hmmpanther:PTHR22443:SF14		G/C		A	neutral	2364/5105		getma.org/?cm=msa&ty=f&p=KANL1_HUMAN&rb=601&re=800&var=G713C	tolerated_low_confidence(0.15)	I3L243_HUMAN,I3L233_HUMAN				KANSL1,missense_variant,p.Gly713Cys,ENST00000262419,NM_001193466.1;KANSL1,missense_variant,p.Gly70Cys,ENST00000393476,;KANSL1,missense_variant,p.Gly713Cys,ENST00000574590,NM_001193465.1;KANSL1,missense_variant,p.Gly713Cys,ENST00000572904,NM_015443.3;KANSL1,missense_variant,p.Gly713Cys,ENST00000432791,;KANSL1,missense_variant,p.Gly713Cys,ENST00000575318,;RP11-669E14.6,downstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,upstream_gene_variant,,ENST00000573286,;KANSL1,upstream_gene_variant,,ENST00000572679,;KANSL1,upstream_gene_variant,,ENST00000576137,;							MODERATE	2137/3318	G713C	KANL1_HUMAN			Transcript		benign(0.008)	.	ENSP00000461812		CCDS11503.1			1	
HEPACAM	0	LGGM	GRCh37	11	124793684	124793684	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	17	4	.	.	ENST00000298251.4:c.650G>C	p.Cys217Ser	p.C217S	ENST00000298251	NM_152722.4	217	tGc/tCc	0	1	1	UPI000013E4B5	0	getma.org/pdb.php?prot=HECAM_HUMAN&from=147&to=235&var=C217S	ENST00000298251		ENSG00000165478	26361		21	4.205		HGNC	p.C217S		HEPACAM		SNV			1				ENST00000298251	protein_coding	getma.org/?cm=var&var=hg19,11,124793684,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF104,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/S		G	high	1056/3602		getma.org/?cm=msa&ty=f&p=HECAM_HUMAN&rb=147&re=235&var=C217S	deleterious(0)				YES	HEPACAM,missense_variant,p.Cys217Ser,ENST00000298251,NM_152722.4;HEPN1,downstream_gene_variant,,ENST00000408930,NM_001037558.2;HEPACAM,non_coding_transcript_exon_variant,,ENST00000526273,;HEPACAM,downstream_gene_variant,,ENST00000528971,;							MODERATE	650/1251	C217S	HECAM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000298251		CCDS8456.1			1	
CSK	0	LGGM	GRCh37	15	75091257	75091257	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	9	4	.	.	ENST00000220003.9:c.220G>A	p.Gly74Ser	p.G74S	ENST00000220003	NM_004383.2	74	Ggt/Agt	0	1	1	UPI0000128541	0	getma.org/pdb.php?prot=CSK_HUMAN&from=63&to=81&var=G74S	ENST00000220003		ENSG00000103653	2444		13	0.035		HGNC	p.G74S		CSK		SNV							ENST00000220003	protein_coding	getma.org/?cm=var&var=hg19,15,75091257,G,A&fts=all		Superfamily_domains:SSF50044,hmmpanther:PTHR24418:SF52,hmmpanther:PTHR24418		G/S		A	neutral	949/2767		getma.org/?cm=msa&ty=f&p=CSK_HUMAN&rb=33&re=111&var=G74S	tolerated(0.36)	Q53EL3_HUMAN,H3BUM9_HUMAN,H3BU69_HUMAN,H3BN15_HUMAN,B4DMZ0_HUMAN,B2R6Q4_HUMAN			YES	CSK,missense_variant,p.Gly74Ser,ENST00000220003,NM_004383.2;CSK,missense_variant,p.Gly74Ser,ENST00000567571,;CSK,missense_variant,p.Gly74Ser,ENST00000309470,;CSK,missense_variant,p.Gly74Ser,ENST00000439220,NM_001127190.1;CSK,missense_variant,p.Gly74Ser,ENST00000569462,;CSK,5_prime_UTR_variant,,ENST00000567123,;CSK,downstream_gene_variant,,ENST00000569915,;CSK,non_coding_transcript_exon_variant,,ENST00000568329,;CSK,non_coding_transcript_exon_variant,,ENST00000563894,;CSK,non_coding_transcript_exon_variant,,ENST00000562066,;CSK,upstream_gene_variant,,ENST00000564216,;CSK,upstream_gene_variant,,ENST00000567135,;CSK,upstream_gene_variant,,ENST00000563010,;CSK,upstream_gene_variant,,ENST00000569321,;CSK,upstream_gene_variant,,ENST00000566464,;							MODERATE	220/1353	G74S	CSK_HUMAN			Transcript		benign(0.004)	.	ENSP00000220003		CCDS10269.1			1	
XKR7	0	LGGM	GRCh37	20	30584705	30584705	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	5	4	.	.	ENST00000562532.2:c.1185C>T	p.Asn395=	p.N395=	ENST00000562532	NM_001011718.1	395	aaC/aaT	0	1	1	UPI00004C7A9E	0		ENST00000562532		ENSG00000260903	23062		9			HGNC	p.N395N	rs372168274	XKR7		SNV	T:0.0002			9.66E-05			ENST00000217299	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815		N	T:0	T		1359/7844							YES	XKR7,synonymous_variant,p.=,ENST00000562532,NM_001011718.1;							LOW	1185/1740		XKR7_HUMAN			Transcript			.	ENSP00000477059	8.24E-06	CCDS33459.1			1	
RORB	0	LGGM	GRCh37	9	77257488	77257488	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	4	.	.	ENST00000376896.3:c.394A>T	p.Asn132Tyr	p.N132Y	ENST00000376896	NM_006914.3	132	Aac/Tac	0	1		UPI000022D774	0	NA	ENST00000396204		ENSG00000198963	10259		22	0		HGNC	p.N143Y		RORB		SNV							ENST00000396204	protein_coding	getma.org/?cm=var&var=hg19,9,77257488,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24082:SF206,hmmpanther:PTHR24082,Gene3D:1.10.565.10		N/Y		T	neutral	427/2996		getma.org/?cm=msa&ty=f&p=RORB_HUMAN&rb=89&re=251&var=N143Y	tolerated(0.11)					RORB,missense_variant,p.Asn132Tyr,ENST00000376896,NM_006914.3;RORB,missense_variant,p.Asn143Tyr,ENST00000396204,;							MODERATE	427/1413	N143Y	RORB_HUMAN			Transcript		benign(0.105)	.	ENSP00000379507					1	
COL3A1	0	LGGM	GRCh37	2	189870144	189870144	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	33	4	.	.	ENST00000304636.3:c.3000T>G	p.Leu1000=	p.L1000=	ENST00000304636	NM_000090.3	1000	ctT/ctG	0	1	1	UPI0000456EBA	0		ENST00000304636		ENSG00000168542	2201		37			HGNC	p.L1000L		COL3A1		SNV			1				ENST00000304636	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415		L		G		3170/5543				Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,synonymous_variant,p.=,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000487010,;COL3A1,downstream_gene_variant,,ENST00000467886,;							LOW	3000/4401		CO3A1_HUMAN			Transcript			.	ENSP00000304408		CCDS2297.1			1	
PAFAH2	0	LGGM	GRCh37	1	26301050	26301073	+	inframe_deletion	In_Frame_Del	DEL	TCTCAGTATTGATAAAGAACACAG	TCTCAGTATTGATAAAGAACACAG	-	novel	by Submitter	H061142	H061142N.bam	TCTCAGTATTGATAAAGAACACAG	TCTCAGTATTGATAAAGAACACAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	9	4	.	.	ENST00000374282.3:c.827_850del	p.Pro276_Lys284delinsGln	p.P276_K284delinsQ	ENST00000374282	NM_000437.3	276	cCTGTGTTCTTTATCAATACTGAGAaa/caa	0	1	1	UPI00001311EB	0		ENST00000374282		ENSG00000158006	8579		13			HGNC	p.276_284del		PAFAH2		deletion							ENST00000374284	protein_coding			hmmpanther:PTHR10272:SF6,hmmpanther:PTHR10272,Pfam_domain:PF03403,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF018169,Superfamily_domains:SSF53474		PVFFINTEK/Q		-		1007-1030/3581				Q5SY01_HUMAN			YES	PAFAH2,inframe_deletion,p.Pro276_Lys284delinsGln,ENST00000374282,NM_000437.3;PAFAH2,inframe_deletion,p.Pro276_Lys284delinsGln,ENST00000374284,;							MODERATE	827-850/1179		PAFA2_HUMAN			Transcript			.	ENSP00000363400		CCDS270.1			1	
LSS	0	LGGM	GRCh37	21	47615608	47615608	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	32	5	.	.	ENST00000397728.3:c.1799G>T	p.Gly600Val	p.G600V	ENST00000397728	NM_002340.5	600	gGg/gTg	0	1		UPI000012A14D	0	getma.org/pdb.php?prot=ERG7_HUMAN&from=557&to=600&var=G600V	ENST00000356396		ENSG00000160285	6708		37	4.195		HGNC	p.G600V		LSS		SNV							ENST00000397728	protein_coding	getma.org/?cm=var&var=hg19,21,47615608,C,A&fts=all		hmmpanther:PTHR11764,hmmpanther:PTHR11764:SF12,TIGRFAM_domain:TIGR01787,Pfam_domain:PF13249,Gene3D:1.50.10.20,Superfamily_domains:SSF48239		G/V		A	high	1876/2995		getma.org/?cm=msa&ty=f&p=ERG7_HUMAN&rb=557&re=600&var=G600V	deleterious(0)					LSS,missense_variant,p.Gly600Val,ENST00000397728,NM_002340.5,NM_001145436.1;LSS,missense_variant,p.Gly520Val,ENST00000457828,NM_001145437.1;LSS,missense_variant,p.Gly600Val,ENST00000356396,NM_001001438.2;LSS,missense_variant,p.Gly589Val,ENST00000522411,;AP001468.1,upstream_gene_variant,,ENST00000594486,;LSS,upstream_gene_variant,,ENST00000419093,;LSS,non_coding_transcript_exon_variant,,ENST00000484808,;LSS,upstream_gene_variant,,ENST00000474319,;LSS,upstream_gene_variant,,ENST00000491729,;							MODERATE	1799/2199	G600V	ERG7_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000348762		CCDS13733.1			1	
SMPD1	0	LGGM	GRCh37	11	6413275	6413275	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	16	5	.	.	ENST00000342245.4:c.980A>G	p.Asn327Ser	p.N327S	ENST00000342245	NM_001007593.2	327	aAt/aGt	0	1	1	UPI000013E592	0	NA	ENST00000342245		ENSG00000166311	11120		21	2.59		HGNC	p.N327S		SMPD1		SNV			1				ENST00000356761	protein_coding	getma.org/?cm=var&var=hg19,11,6413275,A,G&fts=all		hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF13,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF000948,Superfamily_domains:SSF56300		N/S		G	medium	1148/2452		getma.org/?cm=msa&ty=f&p=ASM_HUMAN&rb=199&re=461&var=N325S	deleterious(0)	E9PL59_HUMAN			YES	SMPD1,missense_variant,p.Asn327Ser,ENST00000342245,NM_001007593.2,NM_000543.4;SMPD1,missense_variant,p.Asn327Ser,ENST00000299397,;SMPD1,missense_variant,p.Asn327Ser,ENST00000356761,;SMPD1,missense_variant,p.Asn326Ser,ENST00000527275,;SMPD1,missense_variant,p.Asn57Ser,ENST00000526280,;APBB1,downstream_gene_variant,,ENST00000609360,NM_001164.3;APBB1,downstream_gene_variant,,ENST00000389906,;APBB1,downstream_gene_variant,,ENST00000299402,;APBB1,downstream_gene_variant,,ENST00000311051,NM_145689.1;APBB1,downstream_gene_variant,,ENST00000608394,NM_001257321.1;APBB1,downstream_gene_variant,,ENST00000608704,NM_001257320.1,NM_001257326.1;APBB1,downstream_gene_variant,,ENST00000608645,;APBB1,downstream_gene_variant,,ENST00000608655,NM_001257319.1;APBB1,downstream_gene_variant,,ENST00000530885,NM_001257323.1;APBB1,downstream_gene_variant,,ENST00000609331,NM_001257325.1;APBB1,downstream_gene_variant,,ENST00000529519,;SMPD1,downstream_gene_variant,,ENST00000530395,;SMPD1,non_coding_transcript_exon_variant,,ENST00000533196,;APBB1,downstream_gene_variant,,ENST00000526240,;SMPD1,missense_variant,p.Asn327Ser,ENST00000534405,;SMPD1,missense_variant,p.Asn327Ser,ENST00000533123,;SMPD1,intron_variant,,ENST00000531303,;APBB1,downstream_gene_variant,,ENST00000608435,;APBB1,downstream_gene_variant,,ENST00000524626,;SMPD1,upstream_gene_variant,,ENST00000531336,;SMPD1,upstream_gene_variant,,ENST00000532367,;							MODERATE	980/1896	N325S	ASM_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000340409		CCDS44531.1			1	
KCTD10	0	LGGM	GRCh37	12	109895479	109895479	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	21	5	.	.	ENST00000228495.6:c.483G>A	p.Val161=	p.V161=	ENST00000228495	NM_031954.3	161	gtG/gtA	0	1	1	UPI000004DAE1	0		ENST00000228495		ENSG00000110906	23236		26			HGNC	p.V158V		KCTD10		SNV							ENST00000540411	protein_coding			hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF14		V		T		765/4163				F5H268_HUMAN,F5GY15_HUMAN,F5GWK6_HUMAN,B3KVY5_HUMAN			YES	KCTD10,synonymous_variant,p.=,ENST00000228495,NM_031954.3;KCTD10,synonymous_variant,p.=,ENST00000540411,;KCTD10,synonymous_variant,p.=,ENST00000542858,;KCTD10,synonymous_variant,p.=,ENST00000542262,;KCTD10,5_prime_UTR_variant,,ENST00000540089,;KCTD10,5_prime_UTR_variant,,ENST00000424763,;KCTD10,5_prime_UTR_variant,,ENST00000535546,;KCTD10,5_prime_UTR_variant,,ENST00000542954,;KCTD10,5_prime_UTR_variant,,ENST00000540355,;KCTD10,non_coding_transcript_exon_variant,,ENST00000538161,;KCTD10,3_prime_UTR_variant,,ENST00000537165,;KCTD10,3_prime_UTR_variant,,ENST00000440541,;KCTD10,3_prime_UTR_variant,,ENST00000541077,;KCTD10,non_coding_transcript_exon_variant,,ENST00000545759,;KCTD10,non_coding_transcript_exon_variant,,ENST00000540402,;KCTD10,downstream_gene_variant,,ENST00000535747,;MYO1H,downstream_gene_variant,,ENST00000543960,;							LOW	483/942		BACD3_HUMAN			Transcript			.	ENSP00000228495		CCDS9128.1			1	
C1R	0	LGGM	GRCh37	12	7242661	7242661	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	17	5	.	.	ENST00000542285.1:c.412C>T	p.Gln138Ter	p.Q138*	ENST00000542285		138	Caa/Taa	0	1	1	UPI00020653A8	0		ENST00000542285		ENSG00000159403	1246		22			HGNC	p.Q34X		C1R		SNV			1				ENST00000540610	protein_coding			Gene3D:2.60.120.290,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF78,SMART_domains:SM00042,Superfamily_domains:SSF49854,Superfamily_domains:SSF57196		Q/*		A		562/2112				H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN			YES	C1R,stop_gained,p.Gln138Ter,ENST00000542285,;C1R,stop_gained,p.Gln139Ter,ENST00000542220,NM_001733.4;C1R,stop_gained,p.Gln153Ter,ENST00000536053,;C1R,stop_gained,p.Gln105Ter,ENST00000535233,;C1R,stop_gained,p.Gln34Ter,ENST00000541042,;C1R,stop_gained,p.Gln139Ter,ENST00000540242,;C1R,stop_gained,p.Gln34Ter,ENST00000538050,;C1R,stop_gained,p.Gln114Ter,ENST00000543835,;C1R,stop_gained,p.Gln34Ter,ENST00000540610,;C1RL,downstream_gene_variant,,ENST00000266542,NM_016546.2;C1RL,downstream_gene_variant,,ENST00000545280,;C1R,upstream_gene_variant,,ENST00000602298,;C1RL,downstream_gene_variant,,ENST00000504702,;C1R,stop_gained,p.Gln139Ter,ENST00000543362,;C1RL,3_prime_UTR_variant,,ENST00000539803,;C1R,non_coding_transcript_exon_variant,,ENST00000540394,;C1R,non_coding_transcript_exon_variant,,ENST00000545466,;C1R,non_coding_transcript_exon_variant,,ENST00000543851,;C1R,downstream_gene_variant,,ENST00000536092,;							HIGH	412/1962					Transcript			.	ENSP00000438615					1	
SCLY	0	LGGM	GRCh37	2	238990374	238990374	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	5	.	.	ENST00000254663.6:c.533A>G	p.Lys178Arg	p.K178R	ENST00000254663	NM_016510.5	178	aAg/aGg	0	1	1	UPI0000EE3842	0	getma.org/pdb.php?prot=SCLY_HUMAN&from=32&to=430&var=K170R	ENST00000254663		ENSG00000132330	18161		18	0.78		HGNC	p.K170R		SCLY		SNV							ENST00000555827	protein_coding	getma.org/?cm=var&var=hg19,2,238990374,A,G&fts=all		hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383		K/R		G	neutral	675/2562		getma.org/?cm=msa&ty=f&p=SCLY_HUMAN&rb=32&re=430&var=K170R	tolerated(0.18)	B4DDP9_HUMAN			YES	SCLY,missense_variant,p.Lys178Arg,ENST00000254663,NM_016510.5;SCLY,missense_variant,p.Lys170Arg,ENST00000555827,;SCLY,missense_variant,p.Lys170Arg,ENST00000409736,;SCLY,missense_variant,p.Lys76Arg,ENST00000422984,;SCLY,missense_variant,p.Lys88Arg,ENST00000373332,;SCLY,missense_variant,p.Lys14Arg,ENST00000437134,;SCLY,missense_variant,p.Lys16Arg,ENST00000431487,;SCLY,missense_variant,p.Lys84Arg,ENST00000413463,;SCLY,intron_variant,,ENST00000429612,;SCLY,intron_variant,,ENST00000412508,;SCLY,upstream_gene_variant,,ENST00000450965,;SCLY,upstream_gene_variant,,ENST00000433750,;SCLY,upstream_gene_variant,,ENST00000440143,;SCLY,downstream_gene_variant,,ENST00000480859,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,3_prime_UTR_variant,,ENST00000443532,;SCLY,3_prime_UTR_variant,,ENST00000423324,;SCLY,3_prime_UTR_variant,,ENST00000446202,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,non_coding_transcript_exon_variant,,ENST00000497951,;SCLY,non_coding_transcript_exon_variant,,ENST00000482031,;							MODERATE	533/1362	K170R	SCLY_HUMAN			Transcript		benign(0.013)	.	ENSP00000254663		CCDS2524.2			1	
MCM10	0	LGGM	GRCh37	10	13233397	13233397	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	15	5	.	.	ENST00000484800.2:c.1517T>C	p.Leu506Pro	p.L506P	ENST00000484800		506	cTc/cCc	0	1	1	UPI000013C5E2	0	NA	ENST00000484800		ENSG00000065328	18043		20	0.55		HGNC	p.L506P		MCM10		SNV							ENST00000484800	protein_coding	getma.org/?cm=var&var=hg19,10,13233397,T,C&fts=all		hmmpanther:PTHR13454		L/P		C	neutral	1620/3157		getma.org/?cm=msa&ty=f&p=MCM10_HUMAN&rb=428&re=522&var=L506P	deleterious(0.01)	C9J600_HUMAN			YES	MCM10,missense_variant,p.Leu505Pro,ENST00000378694,;MCM10,missense_variant,p.Leu505Pro,ENST00000378714,NM_018518.4,NM_182751.2;MCM10,missense_variant,p.Leu506Pro,ENST00000484800,;MCM10,upstream_gene_variant,,ENST00000481292,;MCM10,upstream_gene_variant,,ENST00000459751,;							MODERATE	1517/2628	L506P	MCM10_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000418268		CCDS7096.1			1	
ADAT2	0	LGGM	GRCh37	6	143759746	143759746	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	17	5	.	.	ENST00000237283.8:c.182A>T	p.Glu61Val	p.E61V	ENST00000237283	NM_182503.2	61	gAa/gTa	0	1	1	UPI00001A3A7E	0	getma.org/pdb.php?prot=ADAT2_HUMAN&from=19&to=126&var=E61V	ENST00000237283		ENSG00000189007	21172		22	1.62		HGNC	p.E61V		ADAT2		SNV							ENST00000237283	protein_coding	getma.org/?cm=var&var=hg19,6,143759746,T,A&fts=all		Superfamily_domains:SSF53927,Gene3D:3.40.140.10,Pfam_domain:PF00383,hmmpanther:PTHR11079,hmmpanther:PTHR11079:SF47,HAMAP:MF_00972		E/V		A	low	197/2065		getma.org/?cm=msa&ty=f&p=ADAT2_HUMAN&rb=19&re=126&var=E61V	deleterious(0)				YES	ADAT2,missense_variant,p.Glu14Val,ENST00000606514,NM_001286259.1;ADAT2,missense_variant,p.Glu61Val,ENST00000237283,NM_182503.2;AL031320.1,intron_variant,,ENST00000595616,;TUBB8P2,downstream_gene_variant,,ENST00000402141,;							MODERATE	182/576	E61V	ADAT2_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000237283		CCDS43511.1			1	
MTOR	0	LGGM	GRCh37	1	11174440	11174440	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	12	5	.	.	ENST00000361445.4:c.7235A>T	p.Asp2412Val	p.D2412V	ENST00000361445	NM_004958.3	2412	gAc/gTc	0	1	1	UPI000012ABD3	0	getma.org/pdb.php?prot=MTOR_HUMAN&from=2181&to=2431&var=D2412V	ENST00000361445		ENSG00000198793	3942		17	3.05		HGNC	p.D68V	COSM1662880	MTOR		SNV			1			1	ENST00000455339	protein_coding	getma.org/?cm=var&var=hg19,1,11174440,T,A&fts=all		PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF00454,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112		D/V		A	medium	7312/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=2181&re=2431&var=D2412V	deleterious(0)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Asp2412Val,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Asp617Val,ENST00000376838,;MTOR,missense_variant,p.Asp68Val,ENST00000455339,;MTOR,non_coding_transcript_exon_variant,,ENST00000490931,;MTOR,non_coding_transcript_exon_variant,,ENST00000473471,;					1		MODERATE	7235/7650	D2412V	MTOR_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000354558		CCDS127.1			1	
TMEM132B	0	LGGM	GRCh37	12	126139237	126139237	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	33	6	.	.	ENST00000299308.3:c.3218G>C	p.Ser1073Thr	p.S1073T	ENST00000299308	NM_052907.2	1073	aGt/aCt	0	1	1	UPI00006BFF58	0	NA	ENST00000299308		ENSG00000139364	29397		39	0.345		HGNC	p.S585T		TMEM132B		SNV							ENST00000535886	protein_coding	getma.org/?cm=var&var=hg19,12,126139237,G,C&fts=all		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5		S/T		C	neutral	3226/10906		getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=S1073T	deleterious(0.01)				YES	TMEM132B,missense_variant,p.Ser1073Thr,ENST00000299308,NM_052907.2;TMEM132B,missense_variant,p.Ser585Thr,ENST00000535886,NM_001286219.1;							MODERATE	3218/3237	S1073T	T132B_HUMAN			Transcript		benign(0.056)	.	ENSP00000299308		CCDS41859.1			1	
ARSI	0	LGGM	GRCh37	5	149677696	149677696	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	7	6	.	.	ENST00000328668.7:c.791C>T	p.Ala264Val	p.A264V	ENST00000328668	NM_001012301.2	264	gCg/gTg	0	1	1	UPI000003FD83	0	getma.org/pdb.php?prot=ARSI_HUMAN&from=47&to=476&var=A264V	ENST00000328668		ENSG00000183876	32521	8.67E-05	13	2.61		HGNC	p.A121V	rs754848958	ARSI	6.06E-05	SNV			1				ENST00000515301	protein_coding	getma.org/?cm=var&var=hg19,5,149677696,G,A&fts=all		hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649		A/V		A	medium	1371/3161		getma.org/?cm=msa&ty=f&p=ARSI_HUMAN&rb=47&re=476&var=A264V	deleterious(0)	D6RDH0_HUMAN			YES	ARSI,missense_variant,p.Ala264Val,ENST00000328668,NM_001012301.2;ARSI,missense_variant,p.Ala121Val,ENST00000515301,;ARSI,downstream_gene_variant,,ENST00000509146,;							MODERATE	791/1710	A264V	ARSI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333395	2.47E-05	CCDS34275.1	0.00111		1	
VAV3	0	LGGM	GRCh37	1	108309108	108309108	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	22	6	.	.	ENST00000370056.4:c.782A>T	p.Asp261Val	p.D261V	ENST00000370056	NM_006113.4	261	gAc/gTc	0	1	1	UPI0000138212	0	getma.org/pdb.php?prot=VAV3_HUMAN&from=196&to=370&var=D261V	ENST00000370056		ENSG00000134215	12659		28	-0.235		HGNC	p.D196V		VAV3		SNV							ENST00000371846	protein_coding	getma.org/?cm=var&var=hg19,1,108309108,T,A&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065		D/V		A	neutral	1057/4990		getma.org/?cm=msa&ty=f&p=VAV3_HUMAN&rb=196&re=370&var=D261V	deleterious(0.04)	F5GXH7_HUMAN			YES	VAV3,missense_variant,p.Asp261Val,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Asp261Val,ENST00000527011,;VAV3,missense_variant,p.Asp196Val,ENST00000371846,;VAV3,missense_variant,p.Asp256Val,ENST00000490388,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,downstream_gene_variant,,ENST00000530671,;VAV3,downstream_gene_variant,,ENST00000524574,;							MODERATE	782/2544	D261V	VAV3_HUMAN			Transcript		benign(0.141)	.	ENSP00000359073		CCDS785.1			1	
MECOM	0	LGGM	GRCh37	3	168806968	168806968	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	21	6	.	.	ENST00000264674.3:c.3036T>A	p.Tyr1012Ter	p.Y1012*	ENST00000264674	NM_001105077.3	1012	taT/taA	0	1		UPI000013D551	0	NA	ENST00000468789		ENSG00000085276	3498		27	0		HGNC	p.Y1012X		MECOM		SNV			1				ENST00000264674	protein_coding	getma.org/?cm=var&var=hg19,3,168806968,A,T&fts=all		hmmpanther:PTHR24393		Y/*		T	NA	3229/3691		NA		Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,stop_gained,p.Tyr938Ter,ENST00000464456,NM_001164000.1;MECOM,stop_gained,p.Tyr1012Ter,ENST00000264674,NM_001105077.3;MECOM,stop_gained,p.Tyr947Ter,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,stop_gained,p.Tyr1126Ter,ENST00000494292,NM_004991.3;MECOM,stop_gained,p.Tyr947Ter,ENST00000468789,NM_001105078.3;MECOM,stop_gained,p.Tyr948Ter,ENST00000472280,;MECOM,stop_gained,p.Tyr948Ter,ENST00000433243,;MECOM,stop_gained,p.Tyr938Ter,ENST00000460814,;							HIGH	2841/3156	Y947*	EVI1_HUMAN			Transcript			.	ENSP00000419995		CCDS3205.1			1	
WWC2	0	LGGM	GRCh37	4	184207195	184207195	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	3	6	.	.	ENST00000403733.3:c.3124A>G	p.Ser1042Gly	p.S1042G	ENST00000403733	NM_024949.5	1042	Agt/Ggt	0	1	1	UPI000022C4C2	0	NA	ENST00000403733		ENSG00000151718	24148		9	2.485		HGNC	p.S170G		WWC2		SNV							ENST00000508747	protein_coding	getma.org/?cm=var&var=hg19,4,184207195,A,G&fts=all		hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26		S/G		G	medium	3323/8826		getma.org/?cm=msa&ty=f&p=WWC2_HUMAN&rb=1034&re=1192&var=S1042G	deleterious(0.04)				YES	WWC2,missense_variant,p.Ser1042Gly,ENST00000403733,NM_024949.5;WWC2,missense_variant,p.Ser1066Gly,ENST00000448232,;WWC2,missense_variant,p.Ser724Gly,ENST00000504005,;WWC2,missense_variant,p.Ser993Gly,ENST00000513834,;WWC2,missense_variant,p.Ser170Gly,ENST00000508747,;WWC2,3_prime_UTR_variant,,ENST00000427431,;WWC2,3_prime_UTR_variant,,ENST00000438543,;WWC2,downstream_gene_variant,,ENST00000515284,;							MODERATE	3124/3579	S1042G	WWC2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000384222		CCDS34109.2			1	
APCDD1	0	LGGM	GRCh37	18	10471701	10471701	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	6	.	.	ENST00000355285.5:c.417G>C	p.Gly139=	p.G139=	ENST00000355285	NM_153000.4	139	ggG/ggC	0	1	1	UPI000000D766	0		ENST00000355285		ENSG00000154856	15718		19			HGNC	p.G139G		APCDD1		SNV			1				ENST00000578882	protein_coding			hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921		G		C		771/3809							YES	APCDD1,synonymous_variant,p.=,ENST00000355285,NM_153000.4;APCDD1,synonymous_variant,p.=,ENST00000578882,;APCDD1,upstream_gene_variant,,ENST00000584596,;APCDD1,3_prime_UTR_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;							LOW	417/1545		APCD1_HUMAN			Transcript			.	ENSP00000347433		CCDS11849.1			1	
RNPEPL1	0	LGGM	GRCh37	2	241513534	241513534	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	17	6	.	.	ENST00000270357.4:c.250G>A	p.Asp84Asn	p.D84N	ENST00000270357	NM_018226.4	84	Gac/Aac	0	1	1	UPI000013D885	0	getma.org/pdb.php?prot=RNPL1_HUMAN&from=1&to=214&var=D84N	ENST00000270357		ENSG00000142327	10079		23	2.61		HGNC	p.D84N	rs753659105	RNPEPL1		SNV							ENST00000270357	protein_coding	getma.org/?cm=var&var=hg19,2,241513534,G,A&fts=all		Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF6,Superfamily_domains:SSF55486		D/N		A	medium	843/5558	1.54E-05	getma.org/?cm=msa&ty=f&p=RNPL1_HUMAN&rb=1&re=214&var=D84N	deleterious(0)				YES	RNPEPL1,missense_variant,p.Asp84Asn,ENST00000270357,NM_018226.4;RNPEPL1,intron_variant,,ENST00000451363,;RNPEPL1,upstream_gene_variant,,ENST00000437406,;ANKMY1,upstream_gene_variant,,ENST00000418708,;ANKMY1,upstream_gene_variant,,ENST00000418505,;RNPEPL1,upstream_gene_variant,,ENST00000464550,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000481757,;RNPEPL1,non_coding_transcript_exon_variant,,ENST00000486058,;RNPEPL1,upstream_gene_variant,,ENST00000493398,;RNPEPL1,upstream_gene_variant,,ENST00000471657,;RNPEPL1,upstream_gene_variant,,ENST00000460884,;RNPEPL1,upstream_gene_variant,,ENST00000498042,;							MODERATE	250/1485	D84N	RNPL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000270357	8.24E-06				1	
MAP1A	0	LGGM	GRCh37	15	43820666	43820666	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	10	7	.	.	ENST00000300231.5:c.6995T>C	p.Ile2332Thr	p.I2332T	ENST00000300231		2332	aTc/aCc	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		17	-1.1		HGNC	p.I2332T		MAP1A		SNV							ENST00000399453	protein_coding	getma.org/?cm=var&var=hg19,15,43820666,T,C&fts=all		hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		I/T		C	neutral	7445/10258		getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=1578&re=2490&var=I2332T					YES	MAP1A,missense_variant,p.Ile2570Thr,ENST00000382031,;MAP1A,missense_variant,p.Ile2332Thr,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Ile2332Thr,ENST00000300231,;PPIP5K1,downstream_gene_variant,,ENST00000420765,NM_001130858.2;PPIP5K1,downstream_gene_variant,,ENST00000396923,;PPIP5K1,downstream_gene_variant,,ENST00000381885,;PPIP5K1,downstream_gene_variant,,ENST00000334933,NM_001130859.2;PPIP5K1,downstream_gene_variant,,ENST00000360301,NM_014659.5;PPIP5K1,downstream_gene_variant,,ENST00000360135,NM_001190214.1;							MODERATE	6995/8412	I2332T	MAP1A_HUMAN			Transcript		benign(0)	.	ENSP00000300231		CCDS42031.1			1	
RPGRIP1	0	LGGM	GRCh37	14	21793507	21793507	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	15	7	.	.	ENST00000400017.2:c.2332G>A	p.Asp778Asn	p.D778N	ENST00000400017	NM_020366.3	778	Gat/Aat	0	1	1	UPI0000071B81	0	NA	ENST00000400017		ENSG00000092200	13436		22	-1.63		HGNC	p.D137N	rs768913743	RPGRIP1		SNV			1				ENST00000307974	protein_coding	getma.org/?cm=var&var=hg19,14,21793507,G,A&fts=all		hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3		D/N		A	neutral	2332/3940	9.54E-05	getma.org/?cm=msa&ty=f&p=RPGR1_HUMAN&rb=758&re=930&var=D778N	tolerated(1)				YES	RPGRIP1,missense_variant,p.Asp778Asn,ENST00000206660,;RPGRIP1,missense_variant,p.Asp778Asn,ENST00000400017,NM_020366.3;RPGRIP1,missense_variant,p.Asp740Asn,ENST00000557771,;RPGRIP1,missense_variant,p.Asp253Asn,ENST00000555587,;RPGRIP1,missense_variant,p.Asp137Asn,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,;	0.000279						MODERATE	2332/3861	D778N	RPGR1_HUMAN			Transcript		benign(0)	.	ENSP00000382895	4.15E-05	CCDS45080.1			1	
MIR7-3HG	0	LGGM	GRCh37	19	4769732	4769732	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	11	7	.	.	ENST00000317292.3:n.303C>T		*101*	ENST00000317292				0	1	1		0		ENST00000317292		ENSG00000176840	30049		18			HGNC	p.A70V		MIR7-3HG		SNV							ENST00000591008	lincRNA							T		303/710							YES	MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000586721,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000588758,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000592709,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000317292,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000589639,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000588711,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000591008,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000592663,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000540211,;MIR7-3HG,upstream_gene_variant,,ENST00000588923,;MIR7-3HG,upstream_gene_variant,,ENST00000589368,;MIR7-3,upstream_gene_variant,,ENST00000384898,;							MODIFIER						Transcript			.						1	
ACVR1	0	LGGM	GRCh37	2	158622453	158622453	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	34	7	.	.	ENST00000263640.3:c.1046A>C	p.Gln349Pro	p.Q349P	ENST00000263640	NM_001105.4	349	cAg/cCg	0	1	1	UPI000000163F	0	getma.org/pdb.php?prot=ACVR1_HUMAN&from=208&to=495&var=Q349P	ENST00000263640		ENSG00000115170	171		41	1.075		HGNC	p.Q349P		ACVR1		SNV			1				ENST00000263640	protein_coding	getma.org/?cm=var&var=hg19,2,158622453,T,G&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,Prints_domain:PR00653,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF56,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/P		G	low	1476/3045		getma.org/?cm=msa&ty=f&p=ACVR1_HUMAN&rb=208&re=495&var=Q349P	deleterious(0.05)	D3DPA4_HUMAN,Q53SV1_HUMAN,Q53SF4_HUMAN,F5GY91_HUMAN,C9JW28_HUMAN,C9JHJ7_HUMAN,C9J1R3_HUMAN			YES	ACVR1,missense_variant,p.Gln349Pro,ENST00000263640,NM_001105.4;ACVR1,missense_variant,p.Gln349Pro,ENST00000409283,;ACVR1,missense_variant,p.Gln349Pro,ENST00000434821,NM_001111067.2;ACVR1,missense_variant,p.Gln349Pro,ENST00000410057,;							MODERATE	1046/1530	Q349P	ACVR1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000263640		CCDS2206.1			1	
CHGB	0	LGGM	GRCh37	20	5903890	5903890	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	68	7	.	.	ENST00000378961.4:c.1100G>T	p.Ser367Ile	p.S367I	ENST00000378961	NM_001819.2	367	aGt/aTt	0	1	1	UPI000013C63D	0	NA	ENST00000378961		ENSG00000089199	1930		75	1.955		HGNC	p.S367I		CHGB		SNV							ENST00000378961	protein_coding	getma.org/?cm=var&var=hg19,20,5903890,G,T&fts=all		Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583,Low_complexity_(Seg):seg		S/I		T	medium	1304/2550		getma.org/?cm=msa&ty=f&p=SCG1_HUMAN&rb=26&re=677&var=S367I	deleterious(0)				YES	CHGB,missense_variant,p.Ser367Ile,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;							MODERATE	1100/2034	S367I	SCG1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000368244		CCDS13092.1			1	
HPN	0	LGGM	GRCh37	19	35551391	35551391	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	12	8	.	.	ENST00000262626.2:c.595C>T	p.Leu199=	p.L199=	ENST00000262626	NM_182983.2	199	Ctg/Ttg	0	1	1	UPI000003FE67	0		ENST00000262626		ENSG00000105707	5155		20			HGNC	p.L199L		HPN		SNV							ENST00000392226	protein_coding			Prints_domain:PR00722,Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,PROSITE_patterns:PS00134,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5,PROSITE_profiles:PS50240		L		T		1420/2363				M0R244_HUMAN,B2ZDQ2_HUMAN			YES	HPN,synonymous_variant,p.=,ENST00000262626,NM_182983.2;HPN,synonymous_variant,p.=,ENST00000392226,NM_002151.2;HPN,intron_variant,,ENST00000597419,;HPN,downstream_gene_variant,,ENST00000600390,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,downstream_gene_variant,,ENST00000600675,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;HPN,downstream_gene_variant,,ENST00000596662,;							LOW	595/1254		HEPS_HUMAN			Transcript			.	ENSP00000262626		CCDS32993.1			1	
PRMT10	0	LGGM	GRCh37	4	148601609	148601609	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	8	.	.	ENST00000322396.6:c.203A>G	p.Tyr68Cys	p.Y68C	ENST00000322396	NM_138364.2	68	tAc/tGc	0	1	1	UPI000004971D	0	NA	ENST00000322396		ENSG00000164169	25099		26	1.61		HGNC	p.Y68C		PRMT10		SNV							ENST00000322396	protein_coding	getma.org/?cm=var&var=hg19,4,148601609,T,C&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		Y/C		C	low	446/3528		getma.org/?cm=msa&ty=f&p=ANM10_HUMAN&rb=1&re=101&var=Y68C	deleterious(0.01)	B3KU92_HUMAN			YES	PRMT10,missense_variant,p.Tyr68Cys,ENST00000322396,NM_138364.2;PRMT10,intron_variant,,ENST00000541232,;PRMT10,intron_variant,,ENST00000514886,;							MODERATE	203/2538	Y68C	ANM10_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000314396		CCDS3771.1			1	
ALB	0	LGGM	GRCh37	4	74274503	74274503	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	16	8	.	.	ENST00000295897.4:c.463del	p.Glu155LysfsTer5	p.E155Kfs*5	ENST00000295897	NM_000477.5	155	Gaa/aa	0	1	1	UPI000002C1AC	0		ENST00000295897		ENSG00000163631	399		24			HGNC	p.E155fs		ALB		deletion			1				ENST00000509063	protein_coding			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,Prints_domain:PR00802		E/X		-		552/2263							YES	ALB,frameshift_variant,p.Glu155LysfsTer5,ENST00000295897,NM_000477.5;ALB,frameshift_variant,p.Glu155LysfsTer5,ENST00000509063,;ALB,frameshift_variant,p.Glu157LysfsTer5,ENST00000441319,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000507673,;							HIGH	463/1830		ALBU_HUMAN			Transcript			.	ENSP00000295897		CCDS3555.1			1	
CABIN1	0	LGGM	GRCh37	22	24515631	24515631	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	39	8	.	.	ENST00000398319.2:c.4598T>C	p.Leu1533Pro	p.L1533P	ENST00000398319	NM_001199281.1	1533	cTg/cCg	0	1		UPI0000126D6C	0	NA	ENST00000263119		ENSG00000099991	24187		47	2.28		HGNC	p.L1533P		CABIN1		SNV							ENST00000263119	protein_coding	getma.org/?cm=var&var=hg19,22,24515631,T,C&fts=all		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7		L/P		C	medium	4725/7222		getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=1360&re=1559&var=L1533P	deleterious(0)					CABIN1,missense_variant,p.Leu1533Pro,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Leu1533Pro,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Leu1454Pro,ENST00000405822,;CABIN1,downstream_gene_variant,,ENST00000467937,;							MODERATE	4598/6663	L1533P	CABIN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263119		CCDS13823.1			1	
CHURC1	0	LGGM	GRCh37	14	65381179	65381179	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	21	8	.	.	ENST00000607599.1:c.47A>T	p.Lys16Met	p.K16M	ENST00000607599	NM_001204063.1	16	aAg/aTg	0	1		UPI000046A185	0	NA	ENST00000549115		ENSG00000258289	20099		29	0		HGNC	p.K16M		CHURC1		SNV							ENST00000548752	protein_coding	getma.org/?cm=var&var=hg19,14,65381179,A,T&fts=all				K/M		T	neutral	101/2629		getma.org/?cm=msa&ty=f&p=G3V214_HUMAN&rb=1&re=140&var=K16M	deleterious_low_confidence(0)					CHURC1,missense_variant,p.Lys16Met,ENST00000607599,NM_001204063.1,NM_145165.3;CHURC1,missense_variant,p.Lys16Met,ENST00000549115,;CHURC1,missense_variant,p.Lys7Met,ENST00000551947,;CHURC1,missense_variant,p.Lys16Met,ENST00000548752,NM_001204064.1;CHURC1,5_prime_UTR_variant,,ENST00000359118,;CHURC1,5_prime_UTR_variant,,ENST00000552002,;FNTB,upstream_gene_variant,,ENST00000542227,NM_001202558.1;FNTB,upstream_gene_variant,,ENST00000447296,;CHURC1-FNTB,upstream_gene_variant,,ENST00000549987,NM_001202559.1;CHURC1,upstream_gene_variant,,ENST00000551093,;RPPH1-2P,upstream_gene_variant,,ENST00000516688,;CHURC1,non_coding_transcript_exon_variant,,ENST00000556089,;CHURC1-FNTB,upstream_gene_variant,,ENST00000552941,;							MODERATE	47/420	K16M	CHUR_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000448050		CCDS55921.1			1	
LAMA1	0	LGGM	GRCh37	18	6980633	6980633	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	11	8	.	.	ENST00000389658.3:c.5894T>C	p.Ile1965Thr	p.I1965T	ENST00000389658	NM_005559.3	1965	aTt/aCt	0	1	1	UPI00001C1FF9	0	NA	ENST00000389658		ENSG00000101680	6481		19	0.805		HGNC	p.I1965T		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,6980633,A,G&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38		I/T		G	low	5988/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=1832&re=2010&var=I1965T	tolerated(0.47)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Ile1965Thr,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;							MODERATE	5894/9228	I1965T	LAMA1_HUMAN			Transcript		benign(0.006)	.	ENSP00000374309		CCDS32787.1			1	
HIPK2	0	LGGM	GRCh37	7	139415733	139415733	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	32	8	.	.	ENST00000406875.3:c.1101C>A	p.Tyr367Ter	p.Y367*	ENST00000406875	NM_022740.4	367	taC/taA	0	1	1	UPI000012C71E	0		ENST00000406875		ENSG00000064393	14402		40			HGNC	p.Y367X		HIPK2		SNV							ENST00000406875	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/*		T		1196/15049				A4D1R9_HUMAN			YES	HIPK2,stop_gained,p.Tyr367Ter,ENST00000406875,NM_022740.4;HIPK2,stop_gained,p.Tyr367Ter,ENST00000428878,;HIPK2,stop_gained,p.Tyr367Ter,ENST00000342645,;							HIGH	1101/3597		HIPK2_HUMAN			Transcript			.	ENSP00000385571					1	
APOD	0	LGGM	GRCh37	3	195300765	195300765	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	20	9	.	.	ENST00000343267.3:c.201A>G	p.Ser67=	p.S67=	ENST00000343267	NM_001647.3	67	tcA/tcG	0	1	1	UPI00000369E0	0		ENST00000343267		ENSG00000189058	612		29			HGNC	p.H108R	rs371814690	APOD		SNV	C:0.0002			9.61E-05			ENST00000458447	protein_coding			Gene3D:2.40.128.20,Pfam_domain:PF08212,PIRSF_domain:PIRSF036893,hmmpanther:PTHR10612,hmmpanther:PTHR10612:SF7,Superfamily_domains:SSF50814		S	C:0	C		563/1130				C9JX71_HUMAN			YES	APOD,synonymous_variant,p.=,ENST00000343267,NM_001647.3;APOD,synonymous_variant,p.=,ENST00000421243,;APOD,synonymous_variant,p.=,ENST00000453131,;APOD,missense_variant,p.His108Arg,ENST00000458447,;APOD,non_coding_transcript_exon_variant,,ENST00000463719,;							LOW	201/570		APOD_HUMAN			Transcript			.	ENSP00000345179	8.24E-06	CCDS33925.1			1	
PANK1	0	LGGM	GRCh37	10	91371588	91371588	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	16	9	.	.	ENST00000307534.4:c.921G>A	p.Leu307=	p.L307=	ENST00000307534	NM_148977.2	307	ctG/ctA	0	1	1	UPI0000131D49	0		ENST00000307534		ENSG00000152782	8598		25			HGNC	p.L82L		PANK1		SNV							ENST00000322191	protein_coding			hmmpanther:PTHR12280,hmmpanther:PTHR12280:SF23,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067		L		T		1077/3367							YES	PANK1,synonymous_variant,p.=,ENST00000307534,NM_148977.2;PANK1,synonymous_variant,p.=,ENST00000371774,;PANK1,synonymous_variant,p.=,ENST00000342512,NM_148978.2;PANK1,synonymous_variant,p.=,ENST00000322191,NM_138316.3;PANK1,non_coding_transcript_exon_variant,,ENST00000461829,;							LOW	921/1797		PANK1_HUMAN			Transcript			.	ENSP00000302108		CCDS31244.1			1	
BICD2	0	LGGM	GRCh37	9	95481445	95481445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	9	.	.	ENST00000356884.6:c.1482G>T	p.Gln494His	p.Q494H	ENST00000356884	NM_001003800.1	494	caG/caT	0	1		UPI00000710B6	0	NA	ENST00000375512		ENSG00000185963	17208		27	0.625		HGNC	p.Q494H		BICD2		SNV			1				ENST00000356884	protein_coding	getma.org/?cm=var&var=hg19,9,95481445,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09730,hmmpanther:PTHR31233,hmmpanther:PTHR31233:SF7		Q/H		A	neutral	1550/4636		getma.org/?cm=msa&ty=f&p=BICD2_HUMAN&rb=83&re=801&var=Q494H	tolerated(0.08)					BICD2,missense_variant,p.Gln494His,ENST00000356884,NM_001003800.1;BICD2,missense_variant,p.Gln494His,ENST00000375512,NM_015250.3;							MODERATE	1482/2475	Q494H	BICD2_HUMAN			Transcript		benign(0.008)	.	ENSP00000364662		CCDS6700.1			1	
UNC79	0	LGGM	GRCh37	14	94063826	94063826	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	9	.	.	ENST00000256339.4:c.2781C>G	p.Asn927Lys	p.N927K	ENST00000256339	NM_020818.3	927	aaC/aaG	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		37	1.665		HGNC	p.N927K		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94063826,C,G&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1,Superfamily_domains:SSF48371		N/K		G	low	3312/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=941&re=1459&var=N1104K	deleterious(0.01)					UNC79,missense_variant,p.Asn1104Lys,ENST00000553484,;UNC79,missense_variant,p.Asn1104Lys,ENST00000555664,;UNC79,missense_variant,p.Asn927Lys,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Asn1104Lys,ENST00000393151,;							MODERATE	3312/7908	N1104K	UNC79_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000376858					1	
ERLEC1	0	LGGM	GRCh37	2	54028906	54028906	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	27	9	.	.	ENST00000185150.4:c.806T>G	p.Phe269Cys	p.F269C	ENST00000185150	NM_015701.4	269	tTt/tGt	0	1	1	UPI00000373C1	0		ENST00000185150		ENSG00000068912	25222		36			HGNC	p.F269C		ERLEC1		SNV							ENST00000405123	protein_coding			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0		F/C		G		937/2433			tolerated(0.11)				YES	ERLEC1,missense_variant,p.Phe269Cys,ENST00000185150,NM_015701.4;ERLEC1,missense_variant,p.Phe269Cys,ENST00000378239,NM_001127398.2;ERLEC1,missense_variant,p.Phe269Cys,ENST00000405123,NM_001127397.2;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;							MODERATE	806/1452		ERLEC_HUMAN			Transcript		benign(0.396)	.	ENSP00000185150		CCDS1848.1			1	
ANKFN1	0	LGGM	GRCh37	17	54428298	54428298	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	31	9	.	.	ENST00000318698.2:c.369T>A	p.Thr123=	p.T123=	ENST00000318698	NM_153228.2	123	acT/acA	0	1	1	UPI000049DE57	0		ENST00000318698		ENSG00000153930	26766		40			HGNC	p.T123T		ANKFN1		SNV							ENST00000566473	protein_coding			hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437		T		A		404/2426							YES	ANKFN1,synonymous_variant,p.=,ENST00000566473,;ANKFN1,synonymous_variant,p.=,ENST00000318698,NM_153228.2;ANKFN1,synonymous_variant,p.=,ENST00000572945,;							LOW	369/2292		ANKF1_HUMAN			Transcript			.	ENSP00000321627		CCDS32686.1			1	
MLXIPL	0	LGGM	GRCh37	7	73010726	73010726	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	26	9	.	.	ENST00000313375.3:c.1906A>T	p.Ile636Phe	p.I636F	ENST00000313375	NM_032953.2	636	Atc/Ttc	0	1	1	UPI0000138F98	0	NA	ENST00000313375		ENSG00000009950	12744		35	0.2		HGNC	p.I636F		MLXIPL		SNV							ENST00000414749	protein_coding	getma.org/?cm=var&var=hg19,7,73010726,T,A&fts=all		hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741		I/F		A	neutral	1954/3278		getma.org/?cm=msa&ty=f&p=MLXPL_HUMAN&rb=601&re=800&var=I636F	tolerated(0.76)	S5LSP3_HUMAN			YES	MLXIPL,missense_variant,p.Ile636Phe,ENST00000313375,NM_032953.2,NM_032951.2;MLXIPL,missense_variant,p.Ile542Phe,ENST00000434326,;MLXIPL,missense_variant,p.Ile636Phe,ENST00000414749,;MLXIPL,missense_variant,p.Ile636Phe,ENST00000354613,NM_032954.2,NM_032952.2;MLXIPL,missense_variant,p.Ile636Phe,ENST00000429400,;MLXIPL,missense_variant,p.Ile543Phe,ENST00000395189,;MLXIPL,downstream_gene_variant,,ENST00000453275,;MLXIPL,3_prime_UTR_variant,,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000467221,;MLXIPL,downstream_gene_variant,,ENST00000476404,;MLXIPL,downstream_gene_variant,,ENST00000488212,;							MODERATE	1906/2559	I636F	MLXPL_HUMAN			Transcript		benign(0.007)	.	ENSP00000320886		CCDS5553.1			1	
MOV10	0	LGGM	GRCh37	1	113232708	113232708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	23	10	.	.	ENST00000413052.2:c.824A>G	p.Glu275Gly	p.E275G	ENST00000413052	NM_001130079.1	275	gAg/gGg	0	1		UPI000012FA84	0	NA	ENST00000357443		ENSG00000155363	7200		33	1.59		HGNC	p.E275G		MOV10		SNV							ENST00000413052	protein_coding	getma.org/?cm=var&var=hg19,1,113232708,A,G&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326		E/G		G	low	992/3383		getma.org/?cm=msa&ty=f&p=MOV10_HUMAN&rb=201&re=400&var=E275G	tolerated(0.37)	Q5JR04_HUMAN,B3KQ43_HUMAN				MOV10,missense_variant,p.Glu219Gly,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Glu275Gly,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,missense_variant,p.Glu275Gly,ENST00000369645,;MOV10,missense_variant,p.Glu275Gly,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,;							MODERATE	824/3012	E275G	MOV10_HUMAN			Transcript		benign(0.063)	.	ENSP00000350028		CCDS853.1			1	
ST18	0	LGGM	GRCh37	8	53085097	53085097	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	14	10	.	.	ENST00000276480.7:c.324A>G	p.Ala108=	p.A108=	ENST00000276480	NM_014682.2	108	gcA/gcG	0	1	1	UPI0000046C30	0		ENST00000276480		ENSG00000147488	18695		24			HGNC	p.A108A		ST18		SNV							ENST00000276480	protein_coding			hmmpanther:PTHR10816:SF9,hmmpanther:PTHR10816		A		C		1008/6187				E5RHS3_HUMAN			YES	ST18,synonymous_variant,p.=,ENST00000276480,NM_014682.2;ST18,synonymous_variant,p.=,ENST00000517580,;ST18,non_coding_transcript_exon_variant,,ENST00000520257,;ST18,synonymous_variant,p.=,ENST00000521582,;ST18,3_prime_UTR_variant,,ENST00000522251,;ST18,3_prime_UTR_variant,,ENST00000521824,;							LOW	324/3144		ST18_HUMAN			Transcript			.	ENSP00000276480		CCDS6149.1			1	
NEURL1	0	LGGM	GRCh37	10	105350085	105350085	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	6	10	.	.	ENST00000369780.4:c.1681C>T	p.Arg561Cys	p.R561C	ENST00000369780	NM_004210.4	561	Cgc/Tgc	0	1	1	UPI0000073F46	0	getma.org/pdb.php?prot=NEU1A_HUMAN&from=518&to=567&var=R561C	ENST00000369780		ENSG00000107954	7761		16	3.77		HGNC	p.R544C	rs760696221	NEURL1		SNV							ENST00000369777	protein_coding	getma.org/?cm=var&var=hg19,10,105350085,C,T&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF4,Gene3D:3.30.40.10,Pfam_domain:PF13920,Superfamily_domains:SSF57850		R/C		T	high	2090/4314		getma.org/?cm=msa&ty=f&p=NEU1A_HUMAN&rb=518&re=567&var=R561C	deleterious(0)	B4DS86_HUMAN			YES	NEURL1,missense_variant,p.Arg561Cys,ENST00000369780,NM_004210.4;NEURL1,missense_variant,p.Arg544Cys,ENST00000369777,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,downstream_gene_variant,,ENST00000369774,;SH3PXD2A,downstream_gene_variant,,ENST00000355946,NM_014631.2;	0.000116						MODERATE	1681/1725	R561C	NEU1A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358795	8.24E-06	CCDS7551.1			1	
VSTM2A	0	LGGM	GRCh37	7	54636725	54636725	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	14	10	.	.	ENST00000407838.3:c.658G>A	p.Gly220Arg	p.G220R	ENST00000407838	NM_182546.2	220	Gga/Aga	0	1	1	UPI0000EE7EC1	0	NA	ENST00000407838		ENSG00000170419	28499		24	-0.145		HGNC	p.G220R		VSTM2A		SNV							ENST00000407838	protein_coding	getma.org/?cm=var&var=hg19,7,54636725,G,A&fts=all		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF19		G/R		A	neutral	1064/3112		getma.org/?cm=msa&ty=f&p=VTM2A_HUMAN&rb=148&re=236&var=G220R	deleterious_low_confidence(0.04)				YES	VSTM2A,missense_variant,p.Gly220Arg,ENST00000407838,NM_182546.2;VSTM2A,intron_variant,,ENST00000404951,;VSTM2A,intron_variant,,ENST00000402613,;GS1-18A18.1,intron_variant,,ENST00000456049,;VSTM2A,non_coding_transcript_exon_variant,,ENST00000466888,;VSTM2A,intron_variant,,ENST00000498834,;							MODERATE	658/711	G220R	VTM2A_HUMAN			Transcript		benign(0.157)	.	ENSP00000384967		CCDS5512.2			1	
PCDH10	0	LGGM	GRCh37	4	134076149	134076149	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	19	10	.	.	ENST00000264360.5:c.2768A>G	p.His923Arg	p.H923R	ENST00000264360	NM_032961.1	923	cAt/cGt	0	1	1	UPI0000161C61	0	NA	ENST00000264360		ENSG00000138650	13404		29	1.355		HGNC	p.H923R		PCDH10		SNV							ENST00000264360	protein_coding	getma.org/?cm=var&var=hg19,4,134076149,A,G&fts=all		hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028		H/R		G	low	3594/8399		getma.org/?cm=msa&ty=f&p=PCD10_HUMAN&rb=703&re=1038&var=H923R	tolerated(0.73)	Q9NSR3_HUMAN			YES	PCDH10,missense_variant,p.His923Arg,ENST00000264360,NM_032961.1;PCDH10,non_coding_transcript_exon_variant,,ENST00000511112,;							MODERATE	2768/3123	H923R	PCD10_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000264360		CCDS34063.1			1	
TBC1D32	0	LGGM	GRCh37	6	121638786	121638786	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	17	10	.	.	ENST00000398212.2:c.350T>G	p.Ile117Ser	p.I117S	ENST00000398212	NM_152730.4	117	aTt/aGt	0	1	1	UPI0000E67203	0	NA	ENST00000398212		ENSG00000146350	21485		27	1.295		HGNC	p.I117S		TBC1D32		SNV							ENST00000275159	protein_coding	getma.org/?cm=var&var=hg19,6,121638786,A,C&fts=all		hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961		I/S		C	low	400/3824		getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=I117S	tolerated(0.64)	A2A304_HUMAN			YES	TBC1D32,missense_variant,p.Ile117Ser,ENST00000275159,;TBC1D32,missense_variant,p.Ile117Ser,ENST00000398212,NM_152730.4;TBC1D32,missense_variant,p.Ile117Ser,ENST00000422369,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;							MODERATE	350/3774	I117S	BROMI_HUMAN			Transcript		benign(0.008)	.	ENSP00000381270		CCDS43501.1			1	
MDH1	0	LGGM	GRCh37	2	63833152	63833152	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	56	11	.	.	ENST00000539945.1:c.923T>C	p.Val308Ala	p.V308A	ENST00000539945	NM_001199111.1	308	gTt/gCt	0	1		UPI0000167B3E	0	getma.org/pdb.php?prot=MDHC_HUMAN&from=156&to=331&var=V290A	ENST00000233114		ENSG00000014641	6970		67	2.695		HGNC	p.V290A		MDH1		SNV							ENST00000233114	protein_coding	getma.org/?cm=var&var=hg19,2,63833152,T,C&fts=all		Gene3D:3.90.110.10,HAMAP:MF_01517,Pfam_domain:PF02866,PIRSF_domain:PIRSF000102,hmmpanther:PTHR23382,Superfamily_domains:SSF56327,TIGRFAM_domain:TIGR01758,TIGRFAM_domain:TIGR01759		V/A		C	medium	1304/1650		getma.org/?cm=msa&ty=f&p=MDHC_HUMAN&rb=156&re=331&var=V290A	deleterious(0.01)	C9JRL4_HUMAN				MDH1,missense_variant,p.Val290Ala,ENST00000233114,NM_005917.3;MDH1,missense_variant,p.Val308Ala,ENST00000539945,NM_001199111.1;MDH1,missense_variant,p.Val290Ala,ENST00000394423,;MDH1,missense_variant,p.Val201Ala,ENST00000544381,NM_001199112.1;MDH1,missense_variant,p.Val166Ala,ENST00000409476,;MDH1,missense_variant,p.Val125Ala,ENST00000409908,;MDH1,downstream_gene_variant,,ENST00000432309,;WDPCP,intron_variant,,ENST00000490935,;WDPCP,intron_variant,,ENST00000467687,;MDH1,non_coding_transcript_exon_variant,,ENST00000495083,;MDH1,downstream_gene_variant,,ENST00000421012,;							MODERATE	869/1005	V290A	MDHC_HUMAN			Transcript		possibly_damaging(0.634)	.	ENSP00000233114		CCDS1874.1			1	
MUSK	0	LGGM	GRCh37	9	113457770	113457770	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	16	11	.	.	ENST00000374448.4:c.446A>T	p.Lys149Ile	p.K149I	ENST00000374448	NM_005592.3	149	aAa/aTa	0	1	1	UPI000006D2F7	0	getma.org/pdb.php?prot=MUSK_HUMAN&from=121&to=208&var=K149I	ENST00000374448		ENSG00000030304	7525		27	0.715		HGNC	p.K149I		MUSK		SNV			1				ENST00000189978	protein_coding	getma.org/?cm=var&var=hg19,9,113457770,A,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50835		K/I		T	neutral	580/2754		getma.org/?cm=msa&ty=f&p=MUSK_HUMAN&rb=121&re=208&var=K149I	deleterious(0.01)				YES	MUSK,missense_variant,p.Lys149Ile,ENST00000416899,;MUSK,missense_variant,p.Lys149Ile,ENST00000374448,NM_005592.3,NM_001166281.1;MUSK,missense_variant,p.Lys149Ile,ENST00000189978,;MUSK,missense_variant,p.Lys31Ile,ENST00000374440,;MUSK,missense_variant,p.Lys31Ile,ENST00000374439,;							MODERATE	446/2610	K149I	MUSK_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363571		CCDS48005.1			1	
LRP1B	0	LGGM	GRCh37	2	141200172	141200172	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	37	11	.	.	ENST00000389484.3:c.10315G>T	p.Asp3439Tyr	p.D3439Y	ENST00000389484	NM_018557.2	3439	Gac/Tac	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3434&to=3471&var=D3439Y	ENST00000389484		ENSG00000168702	6693		48	1.92		HGNC	p.D3439Y	COSM273655	LRP1B		SNV						1	ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141200172,C,A&fts=all		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424		D/Y		A	medium	11287/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3434&re=3471&var=D3439Y		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			YES	LRP1B,missense_variant,p.Asp3439Tyr,ENST00000389484,NM_018557.2;					1		MODERATE	10315/13800	D3439Y	LRP1B_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000374135		CCDS2182.1			1	
NTM	0	LGGM	GRCh37	11	131240767	131240767	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	46	11	.	.	ENST00000374791.3:c.66T>A	p.Ala22=	p.A22=	ENST00000374791	NM_001048209.1	22	gcT/gcA	0	1	1	UPI0000047814	0		ENST00000374791		ENSG00000182667	17941		57			HGNC	p.A22A		NTM		SNV							ENST00000539799	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix		A		A		395/3040								NTM,synonymous_variant,p.=,ENST00000374791,NM_001048209.1;NTM,synonymous_variant,p.=,ENST00000539799,;NTM,5_prime_UTR_variant,,ENST00000436745,;NTM,non_coding_transcript_exon_variant,,ENST00000477098,;							LOW	66/1035		NTRI_HUMAN			Transcript			.	ENSP00000363923		CCDS41733.1			1	
SLITRK1	0	LGGM	GRCh37	13	84454012	84454012	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	11	.	.	ENST00000377084.2:c.1631C>T	p.Ala544Val	p.A544V	ENST00000377084	NM_052910.2	544	gCa/gTa	0	1	1	UPI0000035971	0	getma.org/pdb.php?prot=SLIK1_HUMAN&from=529&to=580&var=A544V	ENST00000377084		ENSG00000178235	20297		24	-0.755		HGNC	p.A544V		SLITRK1		SNV			1				ENST00000377084	protein_coding	getma.org/?cm=var&var=hg19,13,84454012,G,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00082,Superfamily_domains:SSF52058		A/V		A	neutral	2517/5185		getma.org/?cm=msa&ty=f&p=SLIK1_HUMAN&rb=529&re=580&var=A544V	tolerated(0.45)				YES	SLITRK1,missense_variant,p.Ala544Val,ENST00000377084,NM_052910.2,NM_001281503.1;							MODERATE	1631/2091	A544V	SLIK1_HUMAN			Transcript		benign(0.002)	.	ENSP00000366288		CCDS9464.1			1	
IFRD1	0	LGGM	GRCh37	7	112112832	112112832	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	26	11	.	.	ENST00000403825.3:c.1182C>T	p.Phe394=	p.F394=	ENST00000403825	NM_001550.3	394	ttC/ttT	0	1		UPI00000304DC	0		ENST00000005558		ENSG00000006652	5456		37			HGNC	p.F344F		IFRD1		SNV			1				ENST00000535603	protein_coding			Pfam_domain:PF04836,hmmpanther:PTHR12354:SF6,hmmpanther:PTHR12354		F		T		1652/1834				A4D0U1_HUMAN,Q75MS4_HUMAN,Q75M99_HUMAN,Q75M98_HUMAN,E9PMY4_HUMAN,C9JNM6_HUMAN,C9JLG5_HUMAN,C9JFH1_HUMAN,C9J7U6_HUMAN,C9J311_HUMAN,B7Z4L0_HUMAN				IFRD1,synonymous_variant,p.=,ENST00000403825,NM_001550.3;IFRD1,synonymous_variant,p.=,ENST00000005558,NM_001007245.2,NM_001197080.1;IFRD1,synonymous_variant,p.=,ENST00000535603,NM_001197079.1;IFRD1,synonymous_variant,p.=,ENST00000462155,;IFRD1,downstream_gene_variant,,ENST00000421296,;IFRD1,downstream_gene_variant,,ENST00000466459,;IFRD1,non_coding_transcript_exon_variant,,ENST00000489994,;IFRD1,non_coding_transcript_exon_variant,,ENST00000470441,;							LOW	1182/1356		IFRD1_HUMAN			Transcript			.	ENSP00000005558		CCDS34736.1			1	
HTR2B	0	LGGM	GRCh37	2	231973754	231973754	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	89	12	.	.	ENST00000258400.3:c.923T>C	p.Ile308Thr	p.I308T	ENST00000258400	NM_000867.4	308	aTt/aCt	0	1	1	UPI0000001C05	0	getma.org/pdb.php?prot=5HT2B_HUMAN&from=71&to=380&var=I308T	ENST00000258400		ENSG00000135914	5294		101	0.86		HGNC	p.I308T	rs779950446	HTR2B	6.06E-05	SNV							ENST00000258400	protein_coding	getma.org/?cm=var&var=hg19,2,231973754,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF31,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00651		I/T		G	low	1436/2246	1.50E-05	getma.org/?cm=msa&ty=f&p=5HT2B_HUMAN&rb=71&re=380&var=I308T	tolerated(0.4)	B3VRD5_HUMAN,B3VRD0_HUMAN,B3VRC5_HUMAN			YES	HTR2B,missense_variant,p.Ile308Thr,ENST00000258400,NM_000867.4;PSMD1,intron_variant,,ENST00000308696,NM_002807.3;PSMD1,intron_variant,,ENST00000373635,NM_001191037.1;PSMD1,intron_variant,,ENST00000409643,;PSMD1,intron_variant,,ENST00000447633,;PSMD1,non_coding_transcript_exon_variant,,ENST00000488354,;PSMD1,intron_variant,,ENST00000431051,;							MODERATE	923/1446	I308T	5HT2B_HUMAN			Transcript		benign(0.001)	.	ENSP00000258400	1.65E-05	CCDS2483.1			1	
DEC1	0	LGGM	GRCh37	9	118162659	118162659	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	22	12	.	.	ENST00000374016.1:c.35A>T	p.Lys12Met	p.K12M	ENST00000374016	NM_017418.2	12	aAg/aTg	0	1	1	UPI0000071741	0		ENST00000374016		ENSG00000173077	23658		34			HGNC	p.K12M		DEC1		SNV							ENST00000374016	protein_coding					K/M		T		554/1251			deleterious_low_confidence(0)				YES	DEC1,missense_variant,p.Lys12Met,ENST00000374016,NM_017418.2;							MODERATE	35/213		DEC1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000363128		CCDS6812.1			1	
DAOA	0	LGGM	GRCh37	13	106142287	106142287	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	24	12	.	.	ENST00000375936.3:c.319A>G	p.Met107Val	p.M107V	ENST00000375936	NM_001161812.1	107	Atg/Gtg	0	1	1	UPI00001B01AA	0	NA	ENST00000375936		ENSG00000182346	21191		36	0.55		HGNC	p.M36V		DAOA		SNV							ENST00000329625	protein_coding	getma.org/?cm=var&var=hg19,13,106142287,A,G&fts=all		Pfam_domain:PF15199		M/V		G	neutral	365/742		getma.org/?cm=msa&ty=f&p=DAOA_HUMAN&rb=1&re=152&var=M107V	tolerated_low_confidence(0.16)				YES	DAOA,missense_variant,p.Met36Val,ENST00000329625,;DAOA,missense_variant,p.Met107Val,ENST00000375936,NM_001161812.1,NM_172370.4;DAOA-AS1,non_coding_transcript_exon_variant,,ENST00000448407,;DAOA,missense_variant,p.Met36Val,ENST00000559369,NM_001161814.1;DAOA,missense_variant,p.Met36Val,ENST00000600388,;DAOA,missense_variant,p.Met79Val,ENST00000595812,;DAOA,3_prime_UTR_variant,,ENST00000473269,;DAOA,3_prime_UTR_variant,,ENST00000471432,;DAOA,3_prime_UTR_variant,,ENST00000488534,;DAOA,3_prime_UTR_variant,,ENST00000601240,;DAOA,3_prime_UTR_variant,,ENST00000489237,;							MODERATE	319/462	M107V	DAOA_HUMAN			Transcript		benign(0.043)	.	ENSP00000365103		CCDS41905.1			1	
NEUROD4	0	LGGM	GRCh37	12	55420301	55420301	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	19	12	.	.	ENST00000242994.3:c.78C>A	p.Gly26=	p.G26=	ENST00000242994	NM_021191.2	26	ggC/ggA	0	1	1	UPI000013CB1E	0		ENST00000242994		ENSG00000123307	13802		31			HGNC	p.G26G	rs746499610	NEUROD4	6.06E-05	SNV							ENST00000242994	protein_coding			PIRSF_domain:PIRSF015618,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF86		G		A		456/3953				Q8IW56_HUMAN			YES	NEUROD4,synonymous_variant,p.=,ENST00000242994,NM_021191.2;							LOW	78/996		NDF4_HUMAN			Transcript			.	ENSP00000242994	8.24E-06	CCDS8886.1			1	
PPARGC1A	0	LGGM	GRCh37	4	23816183	23816183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	39	12	.	.	ENST00000264867.2:c.923A>G	p.Asn308Ser	p.N308S	ENST00000264867	NM_013261.3	308	aAc/aGc	0	1	1	UPI000004D072	0	NA	ENST00000264867		ENSG00000109819	9237		51	1.725		HGNC	p.N308S		PPARGC1A		SNV			1				ENST00000264867	protein_coding	getma.org/?cm=var&var=hg19,4,23816183,T,C&fts=all		hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528		N/S		C	low	1043/6318		getma.org/?cm=msa&ty=f&p=PRGC1_HUMAN&rb=1&re=671&var=N308S	tolerated(0.08)	G8DM16_HUMAN			YES	PPARGC1A,missense_variant,p.Asn308Ser,ENST00000264867,NM_013261.3;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509642,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;PPARGC1A,3_prime_UTR_variant,,ENST00000513205,;							MODERATE	923/2397	N308S	PRGC1_HUMAN			Transcript		benign(0.178)	.	ENSP00000264867		CCDS3429.1			1	
OR1J1	0	LGGM	GRCh37	9	125239323	125239323	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	30	12	.	.	ENST00000259357.2:c.883A>T	p.Lys295Ter	p.K295*	ENST00000259357	NM_001004451.1	295	Aaa/Taa	0	1	1	UPI0000061E79	0	NA	ENST00000259357		ENSG00000136834	8208		42	0		HGNC	p.K295X		OR1J1		SNV							ENST00000259357	protein_coding	getma.org/?cm=var&var=hg19,9,125239323,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF213,Superfamily_domains:SSF81321		K/*		A	NA	913/1016		NA					YES	OR1J1,stop_gained,p.Lys295Ter,ENST00000259357,NM_001004451.1;RP11-542K23.9,downstream_gene_variant,,ENST00000412262,;							HIGH	883/969	K295*	OR1J1_HUMAN			Transcript			.	ENSP00000259357		CCDS35120.1			1	
FAM179A	0	LGGM	GRCh37	2	29259560	29259560	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	44	12	.	.	ENST00000379558.4:c.2572T>C	p.Ser858Pro	p.S858P	ENST00000379558	NM_199280.2	858	Tcc/Ccc	0	1	1	UPI00014F7B81	0	NA	ENST00000379558		ENSG00000189350	33715		56	2.365		HGNC	p.S858P		FAM179A		SNV							ENST00000379558	protein_coding	getma.org/?cm=var&var=hg19,2,29259560,T,C&fts=all		hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		S/P		C	medium	2923/12691		getma.org/?cm=msa&ty=f&p=F179A_HUMAN&rb=696&re=895&var=S858P	deleterious(0)	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN			YES	FAM179A,missense_variant,p.Ser858Pro,ENST00000379558,NM_199280.2;FAM179A,missense_variant,p.Ser803Pro,ENST00000403861,;FAM179A,downstream_gene_variant,,ENST00000401723,;FAM179A,non_coding_transcript_exon_variant,,ENST00000465300,;FAM179A,non_coding_transcript_exon_variant,,ENST00000475900,;FAM179A,downstream_gene_variant,,ENST00000460951,;							MODERATE	2572/3060	S858P	F179A_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000368876		CCDS1769.2			1	
IQCF3	0	LGGM	GRCh37	3	51863726	51863726	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	32	13	.	.	ENST00000456080.1:c.64A>T	p.Lys22Ter	p.K22*	ENST00000456080		22	Aag/Tag	0	1		UPI000015EE9E	0	NA	ENST00000437810		ENSG00000229972	31816		45	0		HGNC	p.K22X		IQCF3		SNV							ENST00000456080	protein_coding	getma.org/?cm=var&var=hg19,3,51863726,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21633:SF5,hmmpanther:PTHR21633		K/*		T	NA	843/1270		NA		B2RUV0_HUMAN				IQCF3,stop_gained,p.Lys22Ter,ENST00000456080,;IQCF3,stop_gained,p.Lys22Ter,ENST00000437810,NM_001085479.2;IQCF3,stop_gained,p.Lys22Ter,ENST00000446775,NM_001207023.1;IQCF3,stop_gained,p.Lys22Ter,ENST00000440739,;IQCF3,stop_gained,p.Lys22Ter,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,;							HIGH	64/465	K22*	IQCF3_HUMAN			Transcript			.	ENSP00000409373		CCDS46837.1			1	
LRR1	0	LGGM	GRCh37	14	50074686	50074686	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	22	13	.	.	ENST00000298288.6:c.851T>G	p.Leu284Arg	p.L284R	ENST00000298288	NM_152329.3	284	cTt/cGt	0	1	1	UPI000013E4BC	0	NA	ENST00000298288		ENSG00000165501	19742		35	4.085		HGNC	p.L284R		LRR1		SNV							ENST00000298288	protein_coding	getma.org/?cm=var&var=hg19,14,50074686,T,G&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		L/R		G	high	1175/1745		getma.org/?cm=msa&ty=f&p=LLR1_HUMAN&rb=249&re=414&var=L284R	deleterious(0)				YES	LRR1,missense_variant,p.Leu284Arg,ENST00000298288,NM_152329.3;LRR1,intron_variant,,ENST00000318317,NM_203467.1;LRR1,downstream_gene_variant,,ENST00000557531,;LRR1,3_prime_UTR_variant,,ENST00000554869,;LRR1,3_prime_UTR_variant,,ENST00000540712,;							MODERATE	851/1245	L284R	LLR1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000298288		CCDS9686.1			1	
HIST1H1C	0	LGGM	GRCh37	6	26056289	26056289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	14	.	.	ENST00000343677.2:c.368C>A	p.Ala123Glu	p.A123E	ENST00000343677	NM_005319.3	123	gCg/gAg	0	1	1	UPI0000001BD9	0	NA	ENST00000343677		ENSG00000187837	4716		42	0		HGNC	p.A123E		HIST1H1C		SNV							ENST00000343677	protein_coding	getma.org/?cm=var&var=hg19,6,26056289,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF23,hmmpanther:PTHR11467		A/E		T	neutral	411/732		getma.org/?cm=msa&ty=f&p=H12_HUMAN&rb=121&re=179&var=A123E	tolerated(0.06)				YES	HIST1H1C,missense_variant,p.Ala123Glu,ENST00000343677,NM_005319.3;							MODERATE	368/642	A123E	H12_HUMAN			Transcript		unknown(0)	.	ENSP00000339566		CCDS4577.1			1	
HMCN1	0	LGGM	GRCh37	1	185892549	185892549	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	35	14	.	.	ENST00000271588.4:c.1049C>A	p.Thr350Asn	p.T350N	ENST00000271588	NM_031935.2	350	aCt/aAt	0	1	1	UPI0000458C0E	0	NA	ENST00000271588		ENSG00000143341	19194		49	1.7		HGNC	p.T350N		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185892549,C,A&fts=all		hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158		T/N		A	low	1278/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=343&re=471&var=T350N					YES	HMCN1,missense_variant,p.Thr350Asn,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Thr350Asn,ENST00000367492,;							MODERATE	1049/16908	T350N	HMCN1_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000271588		CCDS30956.1			1	
TBX4	0	LGGM	GRCh37	17	59543204	59543204	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	14	.	.	ENST00000240335.1:c.306A>T	p.Val102=	p.V102=	ENST00000240335	NM_018488.2	102	gtA/gtT	0	1	1	UPI000013CAA9	0		ENST00000240335		ENSG00000121075	11603		32			HGNC	p.V16V		TBX4		SNV			1				ENST00000589003	protein_coding			Gene3D:1h6fA00,Pfam_domain:PF00907,Prints_domain:PR00937,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF29,SMART_domains:SM00425,Superfamily_domains:SSF49417		V		T		351/2470				K7EPY2_HUMAN			YES	TBX4,synonymous_variant,p.=,ENST00000393853,;TBX4,synonymous_variant,p.=,ENST00000240335,NM_018488.2;TBX4,synonymous_variant,p.=,ENST00000589003,;RP11-15K2.2,upstream_gene_variant,,ENST00000592766,;TBX4,non_coding_transcript_exon_variant,,ENST00000593249,;TBX4,non_coding_transcript_exon_variant,,ENST00000590174,;							LOW	306/1638		TBX4_HUMAN			Transcript			.	ENSP00000240335		CCDS11629.1			1	
SPAG11B	0	LGGM	GRCh37	8	7308366	7308366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	37	14	.	.	ENST00000398462.2:c.271A>G	p.Arg91Gly	p.R91G	ENST00000398462	NM_058201.2	91	Aga/Gga	0	1		UPI000013E418	0	NA	ENST00000297498		ENSG00000164871	14534		51	0.895		HGNC	p.R38G		SPAG11B		SNV							ENST00000458665	protein_coding	getma.org/?cm=var&var=hg19,8,7308366,T,C&fts=all						C	low	514/795		getma.org/?cm=msa&ty=f&p=E9PAK7_HUMAN&rb=76&re=108&var=R91G						SPAG11B,missense_variant,p.Arg91Gly,ENST00000398462,NM_058201.2;SPAG11B,missense_variant,p.Arg91Gly,ENST00000359758,NM_058200.2;SPAG11B,missense_variant,p.Arg38Gly,ENST00000458665,NM_058207.2;SPAG11B,3_prime_UTR_variant,,ENST00000297498,NM_016512.3;SPAG11B,3_prime_UTR_variant,,ENST00000528168,NM_058206.3;SPAG11B,intron_variant,,ENST00000361111,NM_058202.2;SPAG11B,intron_variant,,ENST00000528943,;SPAG11B,intron_variant,,ENST00000528767,;							MODIFIER	-/312	R91G	SG11B_HUMAN			Transcript			.	ENSP00000297498		CCDS5966.1			1	
LRP2	0	LGGM	GRCh37	2	170053447	170053447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	14	.	.	ENST00000263816.3:c.8672A>T	p.Asp2891Val	p.D2891V	ENST00000263816	NM_004525.2	2891	gAt/gTt	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=2862&to=2899&var=D2891V	ENST00000263816		ENSG00000081479	6694		42	4.55		HGNC	p.D2891V		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170053447,T,A&fts=all		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		D/V		A	high	8958/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=2862&re=2899&var=D2891V		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Asp2891Val,ENST00000263816,NM_004525.2;							MODERATE	8672/13968	D2891V	LRP2_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000263816		CCDS2232.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H061142	H061142N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	23	16	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		39			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
SKIV2L2	0	LGGM	GRCh37	5	54654400	54654400	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	23	15	.	.	ENST00000230640.5:c.1534-1G>A		p.X512_splice	ENST00000230640	NM_015360.4			0	1	1	UPI000020C772	0		ENST00000230640		ENSG00000039123	18734		38			HGNC	-		SKIV2L2		SNV							ENST00000230640	protein_coding							A		-/4192							YES	SKIV2L2,splice_acceptor_variant,,ENST00000230640,NM_015360.4;SKIV2L2,splice_acceptor_variant,,ENST00000545714,;SKIV2L2,splice_acceptor_variant,,ENST00000506750,;RP11-506H20.2,upstream_gene_variant,,ENST00000605749,;							HIGH	1534/3129		SK2L2_HUMAN			Transcript			.	ENSP00000230640		CCDS3967.1			1	
ADAM19	0	LGGM	GRCh37	5	156915329	156915329	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	25	15	.	.	ENST00000257527.4:c.2494A>T	p.Arg832Trp	p.R832W	ENST00000257527	NM_033274.4	832	Agg/Tgg	0	1		UPI000004E842	0	NA	ENST00000517905		ENSG00000135074	197		40	1.04		HGNC	p.R834W		ADAM19		SNV							ENST00000394020	protein_coding	getma.org/?cm=var&var=hg19,5,156915329,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF19,hmmpanther:PTHR11905		R/W		A	low	2539/3312		getma.org/?cm=msa&ty=f&p=ADA19_HUMAN&rb=827&re=955&var=R832W	deleterious(0.05)					ADAM19,missense_variant,p.Arg832Trp,ENST00000257527,NM_033274.4;ADAM19,missense_variant,p.Arg834Trp,ENST00000394020,;ADAM19,missense_variant,p.Arg832Trp,ENST00000517905,;ADAM19,missense_variant,p.Arg565Trp,ENST00000430702,;ADAM19,missense_variant,p.Arg403Trp,ENST00000517374,;ADAM19,3_prime_UTR_variant,,ENST00000517951,;							MODERATE	2494/2868	R832W	ADA19_HUMAN			Transcript		benign(0.235)	.	ENSP00000428654					1	
COL5A3	0	LGGM	GRCh37	19	10089848	10089848	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	15	15	.	.	ENST00000264828.3:c.2834A>G	p.Glu945Gly	p.E945G	ENST00000264828	NM_015719.3	945	gAa/gGa	0	1	1	UPI00002032A3	0	NA	ENST00000264828		ENSG00000080573	14864		30	2.37		HGNC	p.E945G		COL5A3		SNV							ENST00000264828	protein_coding	getma.org/?cm=var&var=hg19,19,10089848,T,C&fts=all		Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400,Low_complexity_(Seg):seg		E/G		C	medium	2920/6174		getma.org/?cm=msa&ty=f&p=CO5A3_HUMAN&rb=920&re=990&var=E945G					YES	COL5A3,missense_variant,p.Glu945Gly,ENST00000264828,NM_015719.3;							MODERATE	2834/5238	E945G	CO5A3_HUMAN			Transcript		unknown(0)	.	ENSP00000264828		CCDS12222.1			1	
KALRN	0	LGGM	GRCh37	3	124377363	124377363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	16	15	.	.	ENST00000291478.5:c.1028A>G	p.Glu343Gly	p.E343G	ENST00000291478	NM_007064.3	343	gAg/gGg	0	1	1	UPI00001AEB7E	0	getma.org/pdb.php?prot=KALRN_HUMAN&from=1932&to=2102&var=E2039G	ENST00000291478		ENSG00000160145	4814		31	3.025		HGNC	p.E311G		KALRN		SNV			1				ENST00000428018	protein_coding	getma.org/?cm=var&var=hg19,3,124377363,A,G&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065		E/G		G	medium	1191/10888		getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=1932&re=2102&var=E2039G	deleterious(0)					KALRN,missense_variant,p.Glu343Gly,ENST00000291478,NM_007064.3;KALRN,missense_variant,p.Glu2040Gly,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Glu2009Gly,ENST00000354186,;KALRN,missense_variant,p.Glu311Gly,ENST00000428018,;KALRN,missense_variant,p.Glu381Gly,ENST00000393496,;KALRN,missense_variant,p.Glu132Gly,ENST00000459915,;							MODERATE	1028/3870	E2039G	KALRN_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000291478		CCDS3028.1			1	
TLR2	0	LGGM	GRCh37	4	154625425	154625425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	30	15	.	.	ENST00000260010.6:c.1366C>A	p.Pro456Thr	p.P456T	ENST00000260010	NM_003264.3	456	Ccc/Acc	0	1	1	UPI0000137051	0	getma.org/pdb.php?prot=TLR2_HUMAN&from=449&to=476&var=P456T	ENST00000260010		ENSG00000137462	11848		45	1.545		HGNC	p.P456T		TLR2		SNV			1				ENST00000260010	protein_coding	getma.org/?cm=var&var=hg19,4,154625425,C,A&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24365:SF17,hmmpanther:PTHR24365,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,SMART_domains:SM00364,Superfamily_domains:SSF52047		P/T		A	low	2774/4200		getma.org/?cm=msa&ty=f&p=TLR2_HUMAN&rb=419&re=506&var=P456T	deleterious(0)	K9MV98_HUMAN,C6KIA6_HUMAN			YES	TLR2,missense_variant,p.Pro456Thr,ENST00000260010,NM_003264.3;							MODERATE	1366/2355	P456T	TLR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260010		CCDS3784.1			1	
CACNA1G	0	LGGM	GRCh37	17	48703966	48703966	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	25	15	.	.	ENST00000359106.5:c.6988T>C	p.Cys2330Arg	p.C2330R	ENST00000359106	NM_018896.4	2330	Tgc/Cgc	0	1	1	UPI000012727A	0	NA	ENST00000359106		ENSG00000006283	1394		40	1.845		HGNC	p.C2180R		CACNA1G		SNV							ENST00000514717	protein_coding	getma.org/?cm=var&var=hg19,17,48703966,T,C&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137		C/R		C	low	6988/7648		getma.org/?cm=msa&ty=f&p=CAC1G_HUMAN&rb=2251&re=2377&var=C2330R	deleterious_low_confidence(0)				YES	CACNA1G,missense_variant,p.Cys2203Arg,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,missense_variant,p.Cys2296Arg,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Cys2330Arg,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Cys2214Arg,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,missense_variant,p.Cys2196Arg,ENST00000442258,;CACNA1G,missense_variant,p.Cys2219Arg,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,missense_variant,p.Cys2319Arg,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Cys2124Arg,ENST00000358244,;CACNA1G,missense_variant,p.Cys2285Arg,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Cys2274Arg,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Cys2267Arg,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Cys2259Arg,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Cys2251Arg,ENST00000510115,;CACNA1G,missense_variant,p.Cys2244Arg,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Cys2240Arg,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Cys2237Arg,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Cys2230Arg,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Cys2226Arg,ENST00000512389,;CACNA1G,missense_variant,p.Cys2212Arg,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Cys2203Arg,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Cys2192Arg,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,missense_variant,p.Cys2185Arg,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Cys2180Arg,ENST00000514717,;CACNA1G,missense_variant,p.Cys2158Arg,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Cys2147Arg,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,;							MODERATE	6988/7134	C2330R	CAC1G_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000352011		CCDS45730.1			1	
ABI3BP	0	LGGM	GRCh37	3	100560848	100560848	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	15	.	.	ENST00000284322.5:c.1597+4368A>G		*533*	ENST00000284322	NM_015429.3			0	1	1	UPI000011C136	0		ENST00000284322		ENSG00000154175	17265		43			HGNC	p.T594A		ABI3BP		SNV							ENST00000495063	protein_coding							C		-/4498							YES	ABI3BP,missense_variant,p.Thr594Ala,ENST00000471714,;ABI3BP,missense_variant,p.Thr594Ala,ENST00000495063,;ABI3BP,missense_variant,p.Thr32Ala,ENST00000495591,;ABI3BP,missense_variant,p.Thr223Ala,ENST00000533855,;ABI3BP,missense_variant,p.Thr10Ala,ENST00000534256,;ABI3BP,5_prime_UTR_variant,,ENST00000383691,;ABI3BP,intron_variant,,ENST00000284322,NM_015429.3;ABI3BP,intron_variant,,ENST00000528490,;ABI3BP,intron_variant,,ENST00000466947,;ABI3BP,intron_variant,,ENST00000528305,;ABI3BP,upstream_gene_variant,,ENST00000533795,;ABI3BP,upstream_gene_variant,,ENST00000534413,;ABI3BP,intron_variant,,ENST00000470336,;ABI3BP,upstream_gene_variant,,ENST00000487012,;ABI3BP,upstream_gene_variant,,ENST00000487249,;							MODIFIER	-/3228		TARSH_HUMAN			Transcript			.	ENSP00000284322		CCDS46880.1			1	
TCHH	0	LGGM	GRCh37	1	152080926	152080926	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	34	15	.	.	ENST00000368804.1:c.4767C>T	p.Arg1589=	p.R1589=	ENST00000368804	NM_007113.3	1589	cgC/cgT	0	1	1	UPI0000458A5E	0		ENST00000368804		ENSG00000159450	11791		49			HGNC	p.R1589R		TCHH		SNV							ENST00000368804	protein_coding			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		R		A		4767/6900				Q5D861_HUMAN,A2RRS3_HUMAN			YES	TCHH,synonymous_variant,p.=,ENST00000368804,NM_007113.3;							LOW	4767/5832		TRHY_HUMAN			Transcript			.	ENSP00000357794		CCDS41396.1			1	
KDM4B	0	LGGM	GRCh37	19	5111437	5111437	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	21	16	.	.	ENST00000159111.4:c.1115+608T>A		*372*	ENST00000159111	NM_015015.2			0	1	1	UPI00001C202B	0		ENST00000159111		ENSG00000127663	29136		37			HGNC	p.C389X		KDM4B		SNV							ENST00000381759	protein_coding							A		-/5593				K7ES23_HUMAN			YES	KDM4B,stop_gained,p.Cys389Ter,ENST00000381759,;KDM4B,intron_variant,,ENST00000159111,NM_015015.2;KDM4B,intron_variant,,ENST00000536461,;KDM4B,intron_variant,,ENST00000588361,;KDM4B,downstream_gene_variant,,ENST00000588961,;KDM4B,upstream_gene_variant,,ENST00000592159,;KDM4B,intron_variant,,ENST00000589104,;							MODIFIER	-/3291		KDM4B_HUMAN			Transcript			.	ENSP00000159111		CCDS12138.1			1	
THSD7A	0	LGGM	GRCh37	7	11450938	11450938	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	16	.	.	ENST00000423059.4:c.3694T>C	p.Cys1232Arg	p.C1232R	ENST00000423059	NM_015204.2	1232	Tgt/Cgt	0	1	1	UPI00006C0B74	0	NA	ENST00000423059		ENSG00000005108	22207		44	2.365		HGNC	p.C1232R		THSD7A		SNV							ENST00000423059	protein_coding	getma.org/?cm=var&var=hg19,7,11450938,A,G&fts=all		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,SMART_domains:SM00209		C/R		G	medium	3946/10663		getma.org/?cm=msa&ty=f&p=THS7A_HUMAN&rb=1221&re=1284&var=C1232R	deleterious(0)				YES	THSD7A,missense_variant,p.Cys1232Arg,ENST00000423059,NM_015204.2;AC004538.3,intron_variant,,ENST00000445839,;AC004160.4,intron_variant,,ENST00000425837,;							MODERATE	3694/4974	C1232R	THS7A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000406482		CCDS47543.1			1	
PCDH18	0	LGGM	GRCh37	4	138442736	138442736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	37	16	.	.	ENST00000344876.4:c.2855A>T	p.Glu952Val	p.E952V	ENST00000344876	NM_019035.3	952	gAa/gTa	0	1	1	UPI0000047A88	0	NA	ENST00000344876		ENSG00000189184	14268		53	1.78		HGNC	p.E132V		PCDH18		SNV							ENST00000511115	protein_coding	getma.org/?cm=var&var=hg19,4,138442736,T,A&fts=all				E/V		A	low	3242/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=877&re=1076&var=E952V	tolerated(0.21)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Glu952Val,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Glu951Val,ENST00000412923,;PCDH18,missense_variant,p.Glu731Val,ENST00000507846,;PCDH18,missense_variant,p.Glu163Val,ENST00000510305,;PCDH18,missense_variant,p.Glu132Val,ENST00000511115,;							MODERATE	2855/3408	E952V	PCD18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355082		CCDS34064.1			1	
C12orf74	0	LGGM	GRCh37	12	93100408	93100408	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	17	.	.	ENST00000397833.3:c.1A>T	p.Met1?	p.M1?	ENST00000397833	NM_001178097.2	1	Atg/Ttg	0	1	1	UPI00005DB386	0	NA	ENST00000397833		ENSG00000214215	27887		30	0		HGNC	p.M1L		C12orf74		SNV							ENST00000544406	protein_coding	getma.org/?cm=var&var=hg19,12,93100408,A,T&fts=all				M/L		T	NA	452/1856		http://getma.org/?cm=msa&ty=f&p=CL074_HUMAN&rb=1&re=59&var=M1L	tolerated(0.13)				YES	C12orf74,start_lost,p.Met1?,ENST00000544406,;C12orf74,start_lost,p.Met1?,ENST00000397833,NM_001178097.2,NM_001037671.3;							HIGH	1/573	M1L	CL074_HUMAN			Transcript		benign(0.007)	.	ENSP00000380933		CCDS41819.1			1	
ZNF382	0	LGGM	GRCh37	19	37118265	37118265	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	17	.	.	ENST00000292928.2:c.1466A>G	p.Glu489Gly	p.E489G	ENST00000292928	NM_032825.4	489	gAa/gGa	0	1	1	UPI000013E0E2	0	getma.org/pdb.php?prot=ZN382_HUMAN&from=476&to=505&var=E489G	ENST00000292928		ENSG00000161298	17409		35	2.865		HGNC	p.E489G		ZNF382		SNV							ENST00000292928	protein_coding	getma.org/?cm=var&var=hg19,19,37118265,A,G&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF22,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		E/G		G	medium	1579/2813		getma.org/?cm=msa&ty=f&p=ZN382_HUMAN&rb=476&re=505&var=E489G	deleterious(0.03)	K7EK67_HUMAN,C9JME7_HUMAN			YES	ZNF382,missense_variant,p.Glu488Gly,ENST00000435416,;ZNF382,missense_variant,p.Glu489Gly,ENST00000292928,NM_032825.4,NM_001256838.1;ZNF382,missense_variant,p.Glu488Gly,ENST00000439428,;ZNF382,missense_variant,p.Glu440Gly,ENST00000423582,;ZNF382,downstream_gene_variant,,ENST00000590785,;CTD-3234P18.2,upstream_gene_variant,,ENST00000585467,;							MODERATE	1466/1653	E489G	ZN382_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000292928		CCDS33004.1			1	
TLL1	0	LGGM	GRCh37	4	166964483	166964483	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	53	17	.	.	ENST00000061240.2:c.1436C>G	p.Pro479Arg	p.P479R	ENST00000061240	NM_012464.4	479	cCt/cGt	0	1	1	UPI0000072EED	0	getma.org/pdb.php?prot=TLL1_HUMAN&from=462&to=571&var=P479R	ENST00000061240		ENSG00000038295	11843		70	4.915		HGNC	p.P479R	COSM1539480	TLL1		SNV			1			1	ENST00000061240	protein_coding	getma.org/?cm=var&var=hg19,4,166964483,C,G&fts=all		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		P/R		G	high	2083/6708		getma.org/?cm=msa&ty=f&p=TLL1_HUMAN&rb=462&re=571&var=P479R	deleterious(0)	D6RCE0_HUMAN			YES	TLL1,missense_variant,p.Pro479Arg,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Pro479Arg,ENST00000507499,;TLL1,3_prime_UTR_variant,,ENST00000509505,;					1		MODERATE	1436/3042	P479R	TLL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000061240		CCDS3811.1			1	
PPFIBP2	0	LGGM	GRCh37	11	7672087	7672087	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	25	17	.	.	ENST00000299492.4:c.2138C>G	p.Ser713Ter	p.S713*	ENST00000299492	NM_003621.3	713	tCa/tGa	0	1	1	UPI00001C1EF8	0	NA	ENST00000299492		ENSG00000166387	9250		42	0		HGNC	p.S713X		PPFIBP2		SNV							ENST00000299492	protein_coding	getma.org/?cm=var&var=hg19,11,7672087,C,G&fts=all		Superfamily_domains:SSF47769,hmmpanther:PTHR12587:SF18,hmmpanther:PTHR12587		S/*		G	NA	2526/3557		NA		E9PP16_HUMAN,E9PMN3_HUMAN,E9PMH3_HUMAN,E9PK17_HUMAN,E9PJA0_HUMAN,E9PIK8_HUMAN,B3KM46_HUMAN			YES	PPFIBP2,stop_gained,p.Ser713Ter,ENST00000299492,NM_003621.3;PPFIBP2,stop_gained,p.Ser555Ter,ENST00000533792,;PPFIBP2,stop_gained,p.Ser570Ter,ENST00000530181,NM_001256569.1;PPFIBP2,stop_gained,p.Ser601Ter,ENST00000528883,NM_001256568.1;PPFIBP2,upstream_gene_variant,,ENST00000534552,;PPFIBP2,splice_region_variant,,ENST00000524495,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000530582,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000529664,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000528929,;PPFIBP2,downstream_gene_variant,,ENST00000532112,;							HIGH	2138/2631	S713*	LIPB2_HUMAN			Transcript			.	ENSP00000299492		CCDS31419.1			1	
GK2	0	LGGM	GRCh37	4	80328227	80328227	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	45	17	.	.	ENST00000358842.3:c.1128A>T	p.Ala376=	p.A376=	ENST00000358842	NM_033214.2	376	gcA/gcT	0	1	1	UPI000011E629	0		ENST00000358842		ENSG00000196475	4291		62			HGNC	p.A376A		GK2		SNV							ENST00000358842	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF02782,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF46,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR01311		A		A		1146/1865							YES	GK2,synonymous_variant,p.=,ENST00000358842,NM_033214.2;							LOW	1128/1662		GLPK2_HUMAN			Transcript			.	ENSP00000351706		CCDS3585.1			1	
KDM4C	0	LGGM	GRCh37	9	6981028	6981028	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	18	17	.	.	ENST00000381309.3:c.1025C>G	p.Thr342Ser	p.T342S	ENST00000381309	NM_015061.3	342	aCc/aGc	0	1	1	UPI0000367602	0	getma.org/pdb.php?prot=KDM4C_HUMAN&from=294&to=493&var=T342S	ENST00000381309		ENSG00000107077	17071		35	1.3		HGNC	p.T342S		KDM4C		SNV							ENST00000543771	protein_coding	getma.org/?cm=var&var=hg19,9,6981028,C,G&fts=all		hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694		T/S		G	low	1590/4655		getma.org/?cm=msa&ty=f&p=KDM4C_HUMAN&rb=294&re=493&var=T342S	tolerated(0.11)	C9J879_HUMAN			YES	KDM4C,missense_variant,p.Thr342Ser,ENST00000381309,NM_015061.3;KDM4C,missense_variant,p.Thr342Ser,ENST00000381306,NM_001146694.1;KDM4C,missense_variant,p.Thr342Ser,ENST00000543771,NM_001146695.1;KDM4C,missense_variant,p.Thr364Ser,ENST00000535193,NM_001146696.1;KDM4C,missense_variant,p.Thr29Ser,ENST00000428870,;KDM4C,missense_variant,p.Thr161Ser,ENST00000442236,;KDM4C,missense_variant,p.Thr161Ser,ENST00000536108,;RP11-403H13.1,downstream_gene_variant,,ENST00000445708,;KDM4C,upstream_gene_variant,,ENST00000494570,;KDM4C,missense_variant,p.Thr342Ser,ENST00000438023,;							MODERATE	1025/3171	T342S	KDM4C_HUMAN			Transcript		benign(0.002)	.	ENSP00000370710		CCDS6471.1			1	
DYX1C1	0	LGGM	GRCh37	15	55722918	55722918	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	18	.	.	ENST00000321149.3:c.1213G>C	p.Asp405His	p.D405H	ENST00000321149	NM_130810.3	405	Gat/Cat	0	1	1	UPI000013E5B8	0		ENST00000321149		ENSG00000256061	21493		46			HGNC	p.L369F		DYX1C1		SNV			1				ENST00000348518	protein_coding			hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF277		D/H		G		1581/1993			deleterious(0)				YES	DYX1C1,missense_variant,p.Asp405His,ENST00000321149,NM_130810.3;DYX1C1,missense_variant,p.Leu369Phe,ENST00000348518,NM_001033559.2;DYX1C1,missense_variant,p.Leu369Phe,ENST00000457155,;DYX1C1,intron_variant,,ENST00000380679,NM_001033560.1;DYX1C1,intron_variant,,ENST00000448430,;DYX1C1-CCPG1,intron_variant,,ENST00000565113,;DYX1C1-CCPG1,intron_variant,,ENST00000568310,;DYX1C1,intron_variant,,ENST00000524160,;							MODERATE	1213/1263		DYXC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000323275		CCDS10154.1			1	
TRIP11	0	LGGM	GRCh37	14	92477335	92477335	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	20	18	.	.	ENST00000267622.4:c.1309G>C	p.Glu437Gln	p.E437Q	ENST00000267622	NM_004239.3	437	Gaa/Caa	0	1	1	UPI000013D767	0	NA	ENST00000267622		ENSG00000100815	12305		38	2.215		HGNC	p.E437Q		TRIP11		SNV			1				ENST00000267622	protein_coding	getma.org/?cm=var&var=hg19,14,92477335,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18921,hmmpanther:PTHR18921:SF2,Low_complexity_(Seg):seg		E/Q		G	medium	1683/9996		getma.org/?cm=msa&ty=f&p=TRIPB_HUMAN&rb=219&re=711&var=E437Q	tolerated(0.06)	G3V4R7_HUMAN			YES	TRIP11,missense_variant,p.Glu437Gln,ENST00000267622,NM_004239.3;TRIP11,intron_variant,,ENST00000554357,;TRIP11,downstream_gene_variant,,ENST00000555516,;							MODERATE	1309/5940	E437Q	TRIPB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000267622		CCDS9899.1			1	
CSMD1	0	LGGM	GRCh37	8	3165966	3165966	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	27	19	.	.	ENST00000537824.1:c.3691G>A	p.Asp1231Asn	p.D1231N	ENST00000537824	NM_033225.5	1231	Gat/Aat	0	1	1	UPI0001B723C6	0	getma.org/pdb.php?prot=CSMD1_HUMAN&from=1218&to=1274&var=D1232N	ENST00000537824		ENSG00000183117	14026		46	0.93		HGNC	p.D1232N		CSMD1		SNV							ENST00000400186	protein_coding	getma.org/?cm=var&var=hg19,8,3165966,C,T&fts=all		PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		D/N		T	low	3691/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=1218&re=1274&var=D1232N		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Asp712Asn,ENST00000335551,;CSMD1,missense_variant,p.Asp1232Asn,ENST00000520002,;CSMD1,missense_variant,p.Asp1232Asn,ENST00000602557,;CSMD1,missense_variant,p.Asp1232Asn,ENST00000602723,;CSMD1,missense_variant,p.Asp1232Asn,ENST00000400186,;CSMD1,missense_variant,p.Asp1231Asn,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Asp1231Asn,ENST00000542608,;CSMD1,missense_variant,p.Asp1231Asn,ENST00000539096,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;							MODERATE	3691/10695	D1232N				Transcript		possibly_damaging(0.836)	.	ENSP00000441462		CCDS55189.1			1	
FILIP1L	0	LGGM	GRCh37	3	99567589	99567589	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	22	19	.	.	ENST00000354552.3:c.2931C>T	p.Thr977=	p.T977=	ENST00000354552	NM_182909.2	977	acC/acT	0	1	1	UPI00001B24B2	0		ENST00000354552		ENSG00000168386	24589		41			HGNC	p.T737T	rs781491940	FILIP1L		SNV				0.000102			ENST00000495625	protein_coding			hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4		T		A		3402/3970				C9JYJ6_HUMAN			YES	FILIP1L,synonymous_variant,p.=,ENST00000331335,NM_001042459.1;FILIP1L,synonymous_variant,p.=,ENST00000354552,NM_182909.2;FILIP1L,synonymous_variant,p.=,ENST00000383694,NM_014890.2;FILIP1L,synonymous_variant,p.=,ENST00000495625,;FILIP1L,synonymous_variant,p.=,ENST00000471562,NM_001282794.1;FILIP1L,synonymous_variant,p.=,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,;							LOW	2931/3408		FIL1L_HUMAN			Transcript			.	ENSP00000346560	8.27E-06	CCDS43117.1			1	
MDFIC	0	LGGM	GRCh37	7	114655956	114655956	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	41	19	.	.	ENST00000257724.3:c.1035T>A	p.Cys345Ter	p.C345*	ENST00000257724		345	tgT/tgA	0	1		UPI000006E384	0	NA	ENST00000393486		ENSG00000135272	28870		60	0		HGNC	p.C345X		MDFIC		SNV							ENST00000257724	protein_coding	getma.org/?cm=var&var=hg19,7,114655956,T,A&fts=all		Pfam_domain:PF15316,hmmpanther:PTHR15304,hmmpanther:PTHR15304:SF0		C/*		A	NA	1298/4598		NA		C9J784_HUMAN				MDFIC,stop_gained,p.Cys345Ter,ENST00000257724,;MDFIC,stop_gained,p.Cys236Ter,ENST00000393486,NM_001166345.1,NM_199072.4;MDFIC,downstream_gene_variant,,ENST00000498196,;MDFIC,3_prime_UTR_variant,,ENST00000431629,;							HIGH	708/741	C236*	MDFIC_HUMAN			Transcript			.	ENSP00000377126		CCDS55155.1			1	
PAPPA2	0	LGGM	GRCh37	1	176563910	176563910	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	58	19	.	.	ENST00000367662.3:c.1170C>T	p.Asp390=	p.D390=	ENST00000367662	NM_020318.2	390	gaC/gaT	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		77			HGNC	p.D390D		PAPPA2		SNV							ENST00000367661	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,SMART_domains:SM00560,Superfamily_domains:SSF49899		D		T		2334/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,synonymous_variant,p.=,ENST00000367661,NM_021936.2;							LOW	1170/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
CLCA2	0	LGGM	GRCh37	1	86921111	86921111	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	60	19	.	.	ENST00000370565.4:c.2733T>C	p.Gly911=	p.G911=	ENST00000370565	NM_006536.5	911	ggT/ggC	0	1	1	UPI0000035838	0		ENST00000370565		ENSG00000137975	2016		79			HGNC	p.G911G		CLCA2		SNV							ENST00000370565	protein_coding			hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF39,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		G		C		2895/4025							YES	CLCA2,synonymous_variant,p.=,ENST00000370565,NM_006536.5;CLCA2,downstream_gene_variant,,ENST00000498802,;							LOW	2733/2832		CLCA2_HUMAN			Transcript			.	ENSP00000359596		CCDS708.1			1	
OR2A25	0	LGGM	GRCh37	7	143771866	143771866	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	43	20	.	.	ENST00000408898.2:c.554A>G	p.Lys185Arg	p.K185R	ENST00000408898	NM_001004488.1	185	aAa/aGa	0	1	1	UPI00002373C5	0	NA	ENST00000408898		ENSG00000221933	19562		63	1.73		HGNC	p.K185R		OR2A25		SNV							ENST00000408898	protein_coding	getma.org/?cm=var&var=hg19,7,143771866,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		K/R		G	low	592/1014		getma.org/?cm=msa&ty=f&p=O2A25_HUMAN&rb=138&re=282&var=K185R	tolerated(0.15)				YES	OR2A25,missense_variant,p.Lys185Arg,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;							MODERATE	554/933	K185R	O2A25_HUMAN			Transcript		benign(0.075)	.	ENSP00000386167		CCDS43669.1			1	
NRDE2	0	LGGM	GRCh37	14	90759129	90759130	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCA	novel	by Submitter	H061142	H061142N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	47	20	.	.	ENST00000354366.3:c.1753_1754insTGC	p.Glu584_Arg585insLeu	p.E584_R585insL	ENST00000354366	NM_017970.3	585	cgt/cTGCgt	0	1	1	UPI00001FD9DB	0		ENST00000354366		ENSG00000119720	20186		67			HGNC	p.R585delinsLR		NRDE2		insertion							ENST00000354366	protein_coding			Pfam_domain:PF08424,hmmpanther:PTHR13471,Superfamily_domains:SSF48452		R/LR		GCA		1986-1987/5828				Q658X2_HUMAN,E9PBK4_HUMAN			YES	NRDE2,inframe_insertion,p.Glu584_Arg585insLeu,ENST00000354366,NM_017970.3;NRDE2,inframe_insertion,p.Glu353_Arg354insLeu,ENST00000357904,;NRDE2,inframe_insertion,p.Glu163_Arg164insLeu,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,upstream_gene_variant,,ENST00000555903,;							MODERATE	1753-1754/3495		NRDE2_HUMAN			Transcript			.	ENSP00000346335		CCDS9890.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43833728	43833728	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	51	20	.	.	ENST00000389420.3:c.2435A>T	p.Asn812Ile	p.N812I	ENST00000389420	NM_025003.3	812	aAt/aTt	0	1	1	UPI00004565F4	0	NA	ENST00000389420		ENSG00000173157	17178		71	0.895		HGNC	p.N812I		ADAMTS20		SNV							ENST00000553158	protein_coding	getma.org/?cm=var&var=hg19,12,43833728,T,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF05986		N/I		A	low	2435/6076		getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=721&re=840&var=N812I	deleterious(0)				YES	ADAMTS20,missense_variant,p.Asn812Ile,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Asn812Ile,ENST00000553158,;ADAMTS20,upstream_gene_variant,,ENST00000395541,;ADAMTS20,upstream_gene_variant,,ENST00000549670,;							MODERATE	2435/5733	N812I	ATS20_HUMAN			Transcript		benign(0.395)	.	ENSP00000374071		CCDS31778.2			1	
PRKAG1	0	LGGM	GRCh37	12	49398772	49398772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	54	20	.	.	ENST00000316299.5:c.412C>A	p.Leu138Ile	p.L138I	ENST00000316299	NM_001206709.1	138	Ctt/Att	0	1		UPI00001250B2	0	getma.org/pdb.php?prot=AAKG1_HUMAN&from=120&to=178&var=L129I	ENST00000548065		ENSG00000181929	9385		74	2.37		HGNC	p.L129I		PRKAG1		SNV							ENST00000548065	protein_coding	getma.org/?cm=var&var=hg19,12,49398772,G,T&fts=all		Gene3D:3.10.580.10,Pfam_domain:PF00571,PROSITE_profiles:PS51371,hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF38,SMART_domains:SM00116,Superfamily_domains:SSF54631		L/I		T	medium	842/2071		getma.org/?cm=msa&ty=f&p=AAKG1_HUMAN&rb=120&re=178&var=L129I	deleterious(0)	F8W9D1_HUMAN,F8VYZ8_HUMAN,F8VVA3_HUMAN,F8VSL2_HUMAN,F8VSH3_HUMAN,F8VRY2_HUMAN,F8VPF5_HUMAN				PRKAG1,missense_variant,p.Leu129Ile,ENST00000548065,;PRKAG1,missense_variant,p.Leu45Ile,ENST00000395170,NM_002733.4;PRKAG1,missense_variant,p.Leu138Ile,ENST00000316299,NM_001206709.1;PRKAG1,missense_variant,p.Leu78Ile,ENST00000547306,;PRKAG1,missense_variant,p.Leu97Ile,ENST00000552212,NM_001206710.1;PRKAG1,missense_variant,p.Leu104Ile,ENST00000551770,;PRKAG1,missense_variant,p.Leu97Ile,ENST00000552463,;PRKAG1,missense_variant,p.Leu78Ile,ENST00000551696,;PRKAG1,missense_variant,p.Leu45Ile,ENST00000548950,;PRKAG1,missense_variant,p.Leu97Ile,ENST00000551121,;PRKAG1,upstream_gene_variant,,ENST00000548362,;PRKAG1,downstream_gene_variant,,ENST00000547082,;PRKAG1,downstream_gene_variant,,ENST00000548605,;PRKAG1,downstream_gene_variant,,ENST00000548857,;PRKAG1,downstream_gene_variant,,ENST00000547125,;RP11-386G11.5,intron_variant,,ENST00000547866,;RP11-386G11.5,intron_variant,,ENST00000552933,;RP11-386G11.5,intron_variant,,ENST00000552284,;RP11-386G11.5,intron_variant,,ENST00000547395,;PRKAG1,3_prime_UTR_variant,,ENST00000546531,;PRKAG1,non_coding_transcript_exon_variant,,ENST00000550448,;PRKAG1,non_coding_transcript_exon_variant,,ENST00000549726,;PRKAG1,non_coding_transcript_exon_variant,,ENST00000552793,;PRKAG1,non_coding_transcript_exon_variant,,ENST00000550125,;							MODERATE	385/996	L129I	AAKG1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000447433		CCDS8777.1			1	
TBCE	0	LGGM	GRCh37	1	235611666	235611666	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	31	21	.	.	ENST00000366601.3:c.1402T>A	p.Ser468Thr	p.S468T	ENST00000366601		468	Tcc/Acc	0	1	1	UPI000006F791	0	getma.org/pdb.php?prot=TBCE_HUMAN&from=277&to=476&var=S468T	ENST00000366601		ENSG00000116957	11582		52	1.635		HGNC	p.S468T		TBCE		SNV			1				ENST00000366601	protein_coding	getma.org/?cm=var&var=hg19,1,235611666,T,A&fts=all		Gene3D:3.10.20.90,Pfam_domain:PF14560,hmmpanther:PTHR15140,hmmpanther:PTHR15140:SF6,Superfamily_domains:SSF54236		S/T		A	low	1578/1966		getma.org/?cm=msa&ty=f&p=TBCE_HUMAN&rb=277&re=476&var=S468T	tolerated(0.18)				YES	TBCE,missense_variant,p.Ser519Thr,ENST00000543662,NM_001287801.1;TBCE,missense_variant,p.Ser468Thr,ENST00000366601,;TBCE,missense_variant,p.Ser468Thr,ENST00000406207,NM_001079515.1,NM_003193.3;B3GALNT2,downstream_gene_variant,,ENST00000366600,NM_152490.3;TBCE,splice_region_variant,,ENST00000472011,;TBCE,splice_region_variant,,ENST00000465463,;							MODERATE	1402/1584	S468T	TBCE_HUMAN			Transcript		benign(0.054)	.	ENSP00000355560		CCDS1605.1			1	
C10ORF68	0	LGGM	GRCh37	10	33137537	33137537	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	48	22	.	.	ENST00000302316.6:c.1515T>G	p.Phe505Leu	p.F505L	ENST00000302316	NM_024688.2	505	ttT/ttG	0	1		UPI0000D60F36	0	NA	ENST00000375025		ENSG00000150076			70	1.245		Uniprot_gn	p.F569L		C10ORF68		SNV							ENST00000375025	protein_coding	getma.org/?cm=var&var=hg19,10,33137537,T,G&fts=all				F/L		G	low	1707/2079		getma.org/?cm=msa&ty=f&p=CJ068_HUMAN&rb=1&re=626&var=F505L	tolerated(0.51)					C10ORF68,missense_variant,p.Phe464Leu,ENST00000375030,;C10ORF68,missense_variant,p.Phe509Leu,ENST00000375028,;C10ORF68,missense_variant,p.Phe569Leu,ENST00000375025,;C10ORF68,missense_variant,p.Phe505Leu,ENST00000302316,NM_024688.2;							MODERATE	1707/2079	F505L	CJ068_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000364165					1	
SASS6	0	LGGM	GRCh37	1	100572994	100572994	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	31	22	.	.	ENST00000287482.5:c.1262A>G	p.Lys421Arg	p.K421R	ENST00000287482	NM_194292.1	421	aAa/aGa	0	1	1	UPI00001BDF30	0	NA	ENST00000287482		ENSG00000156876	25403		53	0.6		HGNC	p.K421R		SASS6		SNV			1				ENST00000287482	protein_coding	getma.org/?cm=var&var=hg19,1,100572994,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF193,Low_complexity_(Seg):seg		K/R		C	neutral	1403/3880		getma.org/?cm=msa&ty=f&p=SAS6_HUMAN&rb=160&re=655&var=K421R	tolerated(0.41)	F5GXY5_HUMAN,B4DYM7_HUMAN			YES	SASS6,missense_variant,p.Lys421Arg,ENST00000287482,NM_194292.1;SASS6,missense_variant,p.Lys254Arg,ENST00000535161,;SASS6,non_coding_transcript_exon_variant,,ENST00000462159,;							MODERATE	1262/1974	K421R	SAS6_HUMAN			Transcript		benign(0.005)	.	ENSP00000287482		CCDS764.1			1	
CSRNP3	0	LGGM	GRCh37	2	166535742	166535742	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	36	23	.	.	ENST00000314499.7:c.1237T>C	p.Ser413Pro	p.S413P	ENST00000314499	NM_001172173.1	413	Tct/Cct	0	1	1	UPI0000136882	0	NA	ENST00000314499		ENSG00000178662	30729		59	1.04		HGNC	p.S413P		CSRNP3		SNV							ENST00000342316	protein_coding	getma.org/?cm=var&var=hg19,2,166535742,T,C&fts=all		hmmpanther:PTHR13580:SF13,hmmpanther:PTHR13580		S/P		C	low	1613/11788		getma.org/?cm=msa&ty=f&p=CSRN3_HUMAN&rb=291&re=583&var=S413P	deleterious(0)	E7EN18_HUMAN,B8ZZD9_HUMAN			YES	CSRNP3,missense_variant,p.Ser413Pro,ENST00000314499,NM_001172173.1;CSRNP3,missense_variant,p.Ser413Pro,ENST00000342316,NM_024969.3;CSRNP3,missense_variant,p.Ser445Pro,ENST00000409420,;CSRNP3,missense_variant,p.Ser413Pro,ENST00000421875,;CSRNP3,downstream_gene_variant,,ENST00000409664,;							MODERATE	1237/1758	S413P	CSRN3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000318258		CCDS2225.1			1	
MMP1	0	LGGM	GRCh37	11	102661523	102661523	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	24	23	.	.	ENST00000315274.6:c.1211A>T	p.Lys404Ile	p.K404I	ENST00000315274	NM_002421.3	404	aAa/aTa	0	1	1	UPI00000422BA	0	getma.org/pdb.php?prot=MMP1_HUMAN&from=377&to=424&var=K404I	ENST00000315274		ENSG00000196611	7155		47	2.555		HGNC	p.K404I		MMP1		SNV			1				ENST00000315274	protein_coding	getma.org/?cm=var&var=hg19,11,102661523,T,A&fts=all		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		K/I		A	medium	1279/1970		getma.org/?cm=msa&ty=f&p=MMP1_HUMAN&rb=377&re=424&var=K404I	deleterious(0.01)	Q96DZ4_HUMAN,B4DN15_HUMAN,A5GZ69_HUMAN			YES	MMP1,missense_variant,p.Lys404Ile,ENST00000315274,NM_002421.3,NM_001145938.1;WTAPP1,intron_variant,,ENST00000525739,;WTAPP1,intron_variant,,ENST00000544704,;WTAPP1,intron_variant,,ENST00000371455,;							MODERATE	1211/1410	K404I	MMP1_HUMAN			Transcript		benign(0.148)	.	ENSP00000322788		CCDS8322.1			1	
FRYL	0	LGGM	GRCh37	4	48582882	48582882	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	34	23	.	.	ENST00000358350.4:c.2259G>A	p.Gln753=	p.Q753=	ENST00000358350	NM_015030.1	753	caG/caA	0	1	1	UPI0000EBC149	0		ENST00000358350		ENSG00000075539	29127		57			HGNC	p.Q753Q		FRYL		SNV							ENST00000537810	protein_coding			Superfamily_domains:SSF48371,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295		Q		T		2864/11706							YES	FRYL,splice_region_variant,p.=,ENST00000358350,NM_015030.1;FRYL,splice_region_variant,p.=,ENST00000537810,;FRYL,splice_region_variant,,ENST00000264319,;FRYL,splice_region_variant,p.=,ENST00000503238,;FRYL,splice_region_variant,p.=,ENST00000507711,;FRYL,synonymous_variant,p.=,ENST00000506685,;							LOW	2259/9042		FRYL_HUMAN			Transcript			.	ENSP00000351113		CCDS43227.1			1	
EXOSC10	0	LGGM	GRCh37	1	11140920	11140920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	10	25	.	.	ENST00000376936.4:c.1487G>A	p.Arg496Lys	p.R496K	ENST00000376936	NM_001001998.1	496	aGg/aAg	0	1	1	UPI0000001C90	0	getma.org/pdb.php?prot=EXOSX_HUMAN&from=457&to=505&var=R496K	ENST00000376936		ENSG00000171824	9138		35	1.675		HGNC	p.R496K		EXOSC10		SNV							ENST00000304457	protein_coding	getma.org/?cm=var&var=hg19,1,11140920,C,T&fts=all		hmmpanther:PTHR12124,hmmpanther:PTHR12124:SF42,Superfamily_domains:SSF47819		R/K		T	low	1537/2808		getma.org/?cm=msa&ty=f&p=EXOSX_HUMAN&rb=457&re=505&var=R496K	tolerated(0.12)	K7EJ37_HUMAN,B4DFE4_HUMAN			YES	EXOSC10,missense_variant,p.Arg496Lys,ENST00000544779,;EXOSC10,missense_variant,p.Arg496Lys,ENST00000376936,NM_001001998.1;EXOSC10,missense_variant,p.Arg496Lys,ENST00000304457,NM_002685.2;EXOSC10,non_coding_transcript_exon_variant,,ENST00000485606,;EXOSC10,upstream_gene_variant,,ENST00000470611,;EXOSC10,non_coding_transcript_exon_variant,,ENST00000474216,;EXOSC10,upstream_gene_variant,,ENST00000498576,;EXOSC10,upstream_gene_variant,,ENST00000472078,;							MODERATE	1487/2658	R496K	EXOSX_HUMAN			Transcript		benign(0.01)	.	ENSP00000366135		CCDS30584.1			1	
SIPA1L1	0	LGGM	GRCh37	14	72190576	72190576	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	46	25	.	.	ENST00000555818.1:c.4484A>G	p.Asn1495Ser	p.N1495S	ENST00000555818	NM_015556.1	1495	aAc/aGc	0	1	1	UPI00000443CB	0	NA	ENST00000555818		ENSG00000197555	20284		71	1.1		HGNC	p.N1474S		SIPA1L1		SNV							ENST00000381232	protein_coding	getma.org/?cm=var&var=hg19,14,72190576,A,G&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10		N/S		G	low	4832/7831		getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=1460&re=1503&var=N1495S	tolerated(0.28)	G3V4Z3_HUMAN			YES	SIPA1L1,missense_variant,p.Asn1495Ser,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Asn1474Ser,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Asn1474Ser,ENST00000381232,NM_001284245.1;SIPA1L1,missense_variant,p.Asn949Ser,ENST00000537413,;SIPA1L1,non_coding_transcript_exon_variant,,ENST00000554874,;							MODERATE	4484/5415	N1495S	SI1L1_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000450832		CCDS9807.1			1	
UTP14C	0	LGGM	GRCh37	13	52603371	52603371	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	15	26	.	.	ENST00000521776.2:c.431A>C	p.Asp144Ala	p.D144A	ENST00000521776	NM_021645.5	144	gAc/gCc	0	1	1	UPI000006DB4B	0	NA	ENST00000521776		ENSG00000253797	20321		41	2.07		HGNC	p.D144A		UTP14C		SNV							ENST00000521776	protein_coding	getma.org/?cm=var&var=hg19,13,52603371,A,C&fts=all		Pfam_domain:PF04615,hmmpanther:PTHR14150,hmmpanther:PTHR14150:SF16		D/A		C	medium	1164/5529		getma.org/?cm=msa&ty=f&p=UT14C_HUMAN&rb=17&re=735&var=D144A	deleterious(0.01)				YES	UTP14C,missense_variant,p.Asp144Ala,ENST00000521776,NM_021645.5;ALG11,3_prime_UTR_variant,,ENST00000521508,NM_001004127.2;ALG11,3_prime_UTR_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000519151,;							MODERATE	431/2301	D144A	UT14C_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000428619		CCDS31978.1			1	
SMIM23	0	LGGM	GRCh37	5	171217529	171217529	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	30	26	.	.	ENST00000330910.3:c.201C>T	p.Tyr67=	p.Y67=	ENST00000330910		67	taC/taT	0	1	1	UPI000178DF2A	0		ENST00000330910		ENSG00000185662	34440		56			HGNC	p.Y67Y		SMIM23		SNV							ENST00000330910	protein_coding			Pfam_domain:PF15466		Y		T		201/468							YES	SMIM23,synonymous_variant,p.=,ENST00000330910,;SMIM23,synonymous_variant,p.=,ENST00000523047,;							LOW	201/468		CE050_HUMAN			Transcript			.	ENSP00000331214					1	
RPS6KA3	0	LGGM	GRCh37	X	20187600	20187600	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	40	26	.	.	ENST00000379565.3:c.1363A>T	p.Lys455Ter	p.K455*	ENST00000379565	NM_004586.2	455	Aaa/Taa	0	1	1	UPI000012DB2E	0	NA	ENST00000379565		ENSG00000177189	10432		66	0		HGNC	p.K425X		RPS6KA3		SNV			1				ENST00000379548	protein_coding	getma.org/?cm=var&var=hg19,X,20187600,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		K/*		A	NA	1571/7918		NA		Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,stop_gained,p.Lys455Ter,ENST00000379565,NM_004586.2;RPS6KA3,stop_gained,p.Lys427Ter,ENST00000544447,;RPS6KA3,stop_gained,p.Lys426Ter,ENST00000540702,;RPS6KA3,stop_gained,p.Lys425Ter,ENST00000379548,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000479809,;							HIGH	1363/2223	K455*	KS6A3_HUMAN			Transcript			.	ENSP00000368884		CCDS14197.1			1	
ITGA1	0	LGGM	GRCh37	5	52189603	52189603	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	47	26	.	.	ENST00000282588.6:c.1022A>T	p.Asn341Ile	p.N341I	ENST00000282588	NM_181501.1	341	aAt/aTt	0	1	1	UPI00001A95E8	0	getma.org/pdb.php?prot=ITA1_HUMAN&from=172&to=355&var=N341I	ENST00000282588		ENSG00000213949	6134		73	2.27		HGNC	p.N341I		ITGA1		SNV							ENST00000282588	protein_coding	getma.org/?cm=var&var=hg19,5,52189603,A,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Pfam_domain:PF00092,Gene3D:3nigC00,SMART_domains:SM00327,Superfamily_domains:SSF53300,Superfamily_domains:SSF69318		N/I		T	medium	1480/10757		getma.org/?cm=msa&ty=f&p=ITA1_HUMAN&rb=172&re=355&var=N341I	deleterious(0)				YES	ITGA1,missense_variant,p.Asn341Ile,ENST00000282588,NM_181501.1;CTD-2207L17.2,downstream_gene_variant,,ENST00000509174,;							MODERATE	1022/3540	N341I	ITA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000282588		CCDS3955.1			1	
OR2AJ1	0	LGGM	GRCh37	1	248097420	248097420	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	33	26	.	.	ENST00000318244.3:c.350C>A	p.Ala117Glu	p.A117E	ENST00000318244		117	gCa/gAa	0	1	1	UPI0000061E5C	0		ENST00000318244		ENSG00000177275	15001		59			HGNC	p.A117E		OR2AJ1		SNV							ENST00000318244	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF214,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/E		A		350/987			deleterious(0.05)				YES	OR2AJ1,missense_variant,p.Ala117Glu,ENST00000318244,;OR2L13,upstream_gene_variant,,ENST00000366478,NM_175911.2;RP11-438H8.8,downstream_gene_variant,,ENST00000427566,;OR2X1P,upstream_gene_variant,,ENST00000421144,;							MODERATE	350/987		O2AJ1_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000325078					1	
HAS2	0	LGGM	GRCh37	8	122626453	122626453	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	61	26	.	.	ENST00000303924.4:c.1555T>G	p.Tyr519Asp	p.Y519D	ENST00000303924	NM_005328.2	519	Tat/Gat	0	1	1	UPI000012C0A9	0	NA	ENST00000303924		ENSG00000170961	4819		87	2.35		HGNC	p.Y519D		HAS2		SNV							ENST00000303924	protein_coding	getma.org/?cm=var&var=hg19,8,122626453,A,C&fts=all		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7,Transmembrane_helices:TMhelix		Y/D		C	medium	2093/4190		getma.org/?cm=msa&ty=f&p=HAS2_HUMAN&rb=466&re=552&var=Y519D	deleterious(0)				YES	HAS2,missense_variant,p.Tyr519Asp,ENST00000303924,NM_005328.2;							MODERATE	1555/1659	Y519D	HYAS2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000306991		CCDS6335.1			1	
CREB5	0	LGGM	GRCh37	7	28858862	28858862	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	28	27	.	.	ENST00000357727.2:c.1493C>A	p.Thr498Asn	p.T498N	ENST00000357727	NM_182898.2	498	aCc/aAc	0	1	1	UPI0000457534	0	NA	ENST00000357727		ENSG00000146592	16844		55	1.1		HGNC	p.T498N		CREB5		SNV							ENST00000357727	protein_coding	getma.org/?cm=var&var=hg19,7,28858862,C,A&fts=all		PIRSF_domain:PIRSF003153,hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF8		T/N		A	low	1883/8532		getma.org/?cm=msa&ty=f&p=CREB5_HUMAN&rb=437&re=508&var=T498N	deleterious(0.01)	H9KVC5_HUMAN,C9JN33_HUMAN			YES	CREB5,missense_variant,p.Thr498Asn,ENST00000357727,NM_182898.2;CREB5,missense_variant,p.Thr491Asn,ENST00000396300,NM_004904.2;CREB5,missense_variant,p.Thr465Asn,ENST00000396299,NM_182899.3;CREB5,missense_variant,p.Thr359Asn,ENST00000396298,NM_001011666.1;CREB5,missense_variant,p.Thr465Asn,ENST00000409603,;CREB5,3_prime_UTR_variant,,ENST00000498316,;							MODERATE	1493/1527	T498N	CREB5_HUMAN			Transcript		unknown(0)	.	ENSP00000350359		CCDS5417.1			1	
BLTP2	0	LGGM	GRCh37	17	26955484	26955484	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	45	27	.	.	ENST00000528896.2:c.4393A>G	p.Ile1465Val	p.I1465V	ENST00000528896	NM_014680.3	1465	Att/Gtt	0	1	1	UPI00004B4130	0	NA	ENST00000528896		ENSG00000007202	28960		72	0.715		HGNC	p.I1322V		KIAA0100		SNV							ENST00000389003	protein_coding	getma.org/?cm=var&var=hg19,17,26955484,T,C&fts=all		hmmpanther:PTHR15678		I/V		C	neutral	4468/7407		getma.org/?cm=msa&ty=f&p=K0100_HUMAN&rb=1361&re=1560&var=I1465V	tolerated(0.79)	Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,missense_variant,p.Ile1465Val,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Ile1322Val,ENST00000544884,;KIAA0100,missense_variant,p.Ile1322Val,ENST00000389003,;KIAA0100,downstream_gene_variant,,ENST00000577261,;RP11-192H23.7,upstream_gene_variant,,ENST00000577814,;RP11-192H23.7,upstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000582417,;							MODERATE	4393/6708	I1465V	K0100_HUMAN			Transcript		benign(0.002)	.	ENSP00000436773		CCDS32595.1			1	
GPHN	0	LGGM	GRCh37	14	67610118	67610118	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	56	27	.	.	ENST00000478722.1:c.1788T>G	p.Ser596Arg	p.S596R	ENST00000478722	NM_020806.4	596	agT/agG	0	1		UPI000012B3C7	0	getma.org/pdb.php?prot=GEPH_HUMAN&from=502&to=645&var=S563R	ENST00000315266		ENSG00000171723	15465		83	0.915		HGNC	p.S596R		GPHN		SNV			1				ENST00000478722	protein_coding	getma.org/?cm=var&var=hg19,14,67610118,T,G&fts=all		hmmpanther:PTHR10192,hmmpanther:PTHR10192:SF5,TIGRFAM_domain:TIGR00177,Gene3D:3.40.980.10,Pfam_domain:PF00994,SMART_domains:SM00852,Superfamily_domains:SSF53218		S/R		G	low	2810/4193		getma.org/?cm=msa&ty=f&p=GEPH_HUMAN&rb=502&re=645&var=S563R	deleterious(0.04)					GPHN,missense_variant,p.Ser596Arg,ENST00000478722,NM_020806.4;GPHN,missense_variant,p.Ser563Arg,ENST00000315266,NM_001024218.1;GPHN,missense_variant,p.Ser609Arg,ENST00000543237,;GPHN,missense_variant,p.Ser532Arg,ENST00000305960,;GPHN,missense_variant,p.Ser88Arg,ENST00000555503,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,non_coding_transcript_exon_variant,,ENST00000555527,;GPHN,non_coding_transcript_exon_variant,,ENST00000557678,;							MODERATE	1689/2211	S563R	GEPH_HUMAN			Transcript		possibly_damaging(0.561)	.	ENSP00000312771		CCDS32103.1			1	
KIAA1239	0	LGGM	GRCh37	4	37446882	37446882	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	34	29	.	.	ENST00000309447.5:c.3272C>T	p.Pro1091Leu	p.P1091L	ENST00000309447	NM_001144990.1	1091	cCg/cTg	0	1	1	UPI00006C0875	0	NA	ENST00000309447		ENSG00000174145	29229		63	0.805		HGNC	p.P1091L	rs375871515	KIAA1239		SNV	T:0						ENST00000309447	protein_coding	getma.org/?cm=var&var=hg19,4,37446882,C,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Superfamily_domains:SSF50978		P/L	T:0.0003	T	low	4120/8325	0.000218	getma.org/?cm=msa&ty=f&p=K1239_HUMAN&rb=976&re=1175&var=P1091L	tolerated(0.29)				YES	KIAA1239,missense_variant,p.Pro1091Leu,ENST00000309447,NM_001144990.1;							MODERATE	3272/5229	P1091L	K1239_HUMAN			Transcript		benign(0.126)	.	ENSP00000309501	7.69E-05	CCDS47040.1			1	
AP1G1	0	LGGM	GRCh37	16	71795419	71795419	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	13	30	.	.	ENST00000393512.3:c.979A>C	p.Ile327Leu	p.I327L	ENST00000393512	NM_001030007.1	327	Att/Ctt	0	1		UPI000013E60C	0	getma.org/pdb.php?prot=AP1G1_HUMAN&from=23&to=574&var=I324L	ENST00000299980		ENSG00000166747	555		43	2.375		HGNC	p.I327L		AP1G1		SNV							ENST00000393512	protein_coding	getma.org/?cm=var&var=hg19,16,71795419,T,G&fts=all		hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037094,Superfamily_domains:SSF48371		I/L		G	medium	1412/6959		getma.org/?cm=msa&ty=f&p=AP1G1_HUMAN&rb=23&re=574&var=I324L	deleterious(0)	H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN				AP1G1,missense_variant,p.Ile324Leu,ENST00000299980,NM_001128.5;AP1G1,missense_variant,p.Ile327Leu,ENST00000423132,;AP1G1,missense_variant,p.Ile324Leu,ENST00000569748,;AP1G1,missense_variant,p.Ile347Leu,ENST00000433195,;AP1G1,missense_variant,p.Ile327Leu,ENST00000393512,NM_001030007.1;SNORD71,upstream_gene_variant,,ENST00000411292,NR_003059.1;AP1G1,3_prime_UTR_variant,,ENST00000568327,;AP1G1,3_prime_UTR_variant,,ENST00000450149,;AP1G1,non_coding_transcript_exon_variant,,ENST00000565642,;AP1G1,intron_variant,,ENST00000565009,;AP1G1,intron_variant,,ENST00000566179,;							MODERATE	970/2469	I324L	AP1G1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000299980		CCDS32480.1			1	
ATP9A	0	LGGM	GRCh37	20	50230354	50230354	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	91	33	.	.	ENST00000338821.5:c.2433G>A	p.Ser811=	p.S811=	ENST00000338821	NM_006045.1	811	tcG/tcA	0	1	1	UPI000004D334	0		ENST00000338821		ENSG00000054793	13540		124			HGNC	p.S811S		ATP9A		SNV							ENST00000338821	protein_coding			Gene3D:3.40.50.1000,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF49,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652		S		T		2698/8106				Q2NLD0_HUMAN,B4DR18_HUMAN			YES	ATP9A,synonymous_variant,p.=,ENST00000338821,NM_006045.1;ATP9A,synonymous_variant,p.=,ENST00000311637,;ATP9A,synonymous_variant,p.=,ENST00000402822,;							LOW	2433/3144		ATP9A_HUMAN			Transcript			.	ENSP00000342481		CCDS33489.1			1	
COL6A6	0	LGGM	GRCh37	3	130285730	130285730	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	48	34	.	.	ENST00000358511.6:c.1467G>T	p.Glu489Asp	p.E489D	ENST00000358511	NM_001102608.1	489	gaG/gaT	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=436&to=606&var=E489D	ENST00000358511		ENSG00000206384	27023		82	-0.42		HGNC	p.E489D		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130285730,G,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		E/D		T	neutral	1498/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=436&re=606&var=E489D	tolerated(0.45)				YES	COL6A6,missense_variant,p.Glu489Asp,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Glu489Asp,ENST00000453409,;							MODERATE	1467/6792	E489D	CO6A6_HUMAN			Transcript		benign(0.023)	.	ENSP00000351310		CCDS46911.1			1	
ZNF208	0	LGGM	GRCh37	19	22157309	22157309	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	49	36	.	.	ENST00000397126.4:c.527A>C	p.Lys176Thr	p.K176T	ENST00000397126	NM_007153.3	176	aAa/aCa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		85			HGNC	p.K176T		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		K/T		G		676/3992			tolerated(0.37)				YES	ZNF208,missense_variant,p.Lys176Thr,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	527/3843		ZN208_HUMAN			Transcript		benign(0.152)	.	ENSP00000380315		CCDS54240.1			1	
PCLO	0	LGGM	GRCh37	7	82584126	82584126	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	70	37	.	.	ENST00000333891.9:c.6143T>C	p.Met2048Thr	p.M2048T	ENST00000333891	NM_033026.5	2048	aTg/aCg	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		107	0.69		HGNC	p.M2048T		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82584126,A,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		M/T		G	neutral	6481/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=M1979T					YES	PCLO,missense_variant,p.Met2048Thr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Met2048Thr,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	6143/15429	M1979T	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
RYR2	0	LGGM	GRCh37	1	237920995	237920995	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	61	39	.	.	ENST00000366574.2:c.11246-2A>G		p.X3749_splice	ENST00000366574	NM_001035.2			0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		100			HGNC	-		RYR2		SNV			1				ENST00000366574	protein_coding							G		-/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,splice_acceptor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_acceptor_variant,,ENST00000542537,;RYR2,splice_acceptor_variant,,ENST00000360064,;RYR2,splice_acceptor_variant,,ENST00000609119,;							HIGH	11246/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
PROSER1	0	LGGM	GRCh37	13	39587539	39587539	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	21	39	.	.	ENST00000352251.3:c.1850C>T	p.Ser617Leu	p.S617L	ENST00000352251	NM_025138.4	617	tCg/tTg	0	1	1	UPI00001FCC65	0	NA	ENST00000352251		ENSG00000120685	20291		60	1.04		HGNC	p.S617L		PROSER1		SNV							ENST00000352251	protein_coding	getma.org/?cm=var&var=hg19,13,39587539,G,A&fts=all		hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2		S/L		A	low	2684/5168		getma.org/?cm=msa&ty=f&p=PRSR1_HUMAN&rb=601&re=800&var=S617L	deleterious(0)				YES	PROSER1,missense_variant,p.Ser617Leu,ENST00000352251,NM_025138.4;PROSER1,missense_variant,p.Ser595Leu,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,downstream_gene_variant,,ENST00000602899,;PROSER1,downstream_gene_variant,,ENST00000602512,;PROSER1,upstream_gene_variant,,ENST00000492646,;							MODERATE	1850/2835	S617L	PRSR1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000332034		CCDS9368.2			1	
RBBP6	0	LGGM	GRCh37	16	24574534	24574534	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061142	H061142N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	82	41	.	.	ENST00000319715.4:c.1304A>G	p.Lys435Arg	p.K435R	ENST00000319715	NM_006910.4	435	aAa/aGa	0	1	1	UPI00001A96B8	0	NA	ENST00000319715		ENSG00000122257	9889		123	0.55		HGNC	p.K435R		RBBP6		SNV							ENST00000319715	protein_coding	getma.org/?cm=var&var=hg19,16,24574534,A,G&fts=all		hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1		K/R		G	neutral	1736/6229		getma.org/?cm=msa&ty=f&p=RBBP6_HUMAN&rb=337&re=1269&var=K435R	deleterious_low_confidence(0.01)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN			YES	RBBP6,missense_variant,p.Lys435Arg,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Lys435Arg,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Lys302Arg,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000567686,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000562683,;RBBP6,upstream_gene_variant,,ENST00000570185,;							MODERATE	1304/5379	K435R	RBBP6_HUMAN			Transcript		benign(0.32)	.	ENSP00000317872		CCDS10621.1			1	
MYH15	0	LGGM	GRCh37	3	108158597	108158597	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061142	H061142N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	62	43	.	.	ENST00000273353.3:c.3122A>T	p.Gln1041Leu	p.Q1041L	ENST00000273353	NM_014981.1	1041	cAg/cTg	0	1	1	UPI0000253B6F	0	NA	ENST00000273353		ENSG00000144821	31073		105	2.65		HGNC	p.Q1041L		MYH15		SNV							ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108158597,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,Superfamily_domains:SSF90257		Q/L		A	medium	3179/7074		getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=979&re=1079&var=Q1041L	deleterious(0.01)	H9XFA0_HUMAN			YES	MYH15,missense_variant,p.Gln1041Leu,ENST00000273353,NM_014981.1;MYH15,non_coding_transcript_exon_variant,,ENST00000478998,;							MODERATE	3122/5841	Q1041L	MYH15_HUMAN			Transcript		benign(0.014)	.	ENSP00000273353		CCDS43127.1			1	
SCYL3	0	LGGM	GRCh37	1	169823936	169823936	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	40	43	.	.	ENST00000367772.4:c.1644G>A	p.Trp548Ter	p.W548*	ENST00000367772	NM_181093.3	548	tgG/tgA	0	1		UPI00001AE580	0	NA	ENST00000367770		ENSG00000000457	19285		83	0		HGNC	p.W494X		SCYL3		SNV							ENST00000423670	protein_coding	getma.org/?cm=var&var=hg19,1,169823936,C,T&fts=all		hmmpanther:PTHR12984,hmmpanther:PTHR12984:SF13		W/*		T	NA	1692/2916		NA						SCYL3,stop_gained,p.Trp494Ter,ENST00000367771,NM_020423.6;SCYL3,stop_gained,p.Trp548Ter,ENST00000367772,NM_181093.3;SCYL3,stop_gained,p.Trp548Ter,ENST00000367770,;SCYL3,stop_gained,p.Trp494Ter,ENST00000423670,;C1orf112,downstream_gene_variant,,ENST00000286031,NM_018186.2;C1orf112,downstream_gene_variant,,ENST00000359326,;RN7SL333P,upstream_gene_variant,,ENST00000476398,;C1orf112,downstream_gene_variant,,ENST00000498289,;C1orf112,downstream_gene_variant,,ENST00000459772,;SCYL3,downstream_gene_variant,,ENST00000470238,;							HIGH	1644/2229	W548*	PACE1_HUMAN			Transcript			.	ENSP00000356744		CCDS1287.1			1	
OR2M3	0	LGGM	GRCh37	1	248366629	248366629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061142	H061142N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	122	73	.	.	ENST00000456743.1:c.260C>A	p.Ser87Tyr	p.S87Y	ENST00000456743	NM_001004689.1	87	tCt/tAt	0	1	1	UPI000004B234	0	getma.org/pdb.php?prot=OR2M3_HUMAN&from=1&to=138&var=S87Y	ENST00000456743		ENSG00000228198	8269		195	3.165		HGNC	p.S87Y	COSM313584	OR2M3		SNV						1	ENST00000456743	protein_coding	getma.org/?cm=var&var=hg19,1,248366629,C,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		S/Y		A	medium	298/1061		getma.org/?cm=msa&ty=f&p=OR2M3_HUMAN&rb=1&re=138&var=S87Y	tolerated(0.06)				YES	OR2M3,missense_variant,p.Ser87Tyr,ENST00000456743,NM_001004689.1;					1		MODERATE	260/939	S87Y	OR2M3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000389625		CCDS31107.1			1	
TTN	0	LGGM	GRCh37	2	179438173	179438173	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061142	H061142N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061142N.bam, H061142T.bam	Illumina HiSeq	100	75	.	.	ENST00000589042.1:c.72686C>T	p.Pro24229Leu	p.P24229L	ENST00000589042	NM_001267550.1	24229	cCt/cTt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=22583&to=22668&var=P22588L	ENST00000591111		ENSG00000155657	12403		175	1.26		HGNC	p.P21661L		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179438173,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/L		A	low	67988/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=22583&re=22668&var=P22588L		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro24229Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro22588Leu,ENST00000591111,;TTN,missense_variant,p.Pro21661Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro15356Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro15289Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro15164Leu,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,;							MODERATE	67763/103053	P22588L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CTSZ	0	LGGM	GRCh37	20	57581376	57581376	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	7	2	.	.	ENST00000217131.5:c.307+1G>T		p.X103_splice	ENST00000217131	NM_001336.3			0	1	1	UPI000000D9CC	0		ENST00000217131		ENSG00000101160	2547		9			HGNC	-		CTSZ		SNV							ENST00000217131	protein_coding							A		-/1495							YES	CTSZ,splice_donor_variant,,ENST00000217131,NM_001336.3;CTSZ,splice_donor_variant,,ENST00000503833,;CTSZ,splice_donor_variant,,ENST00000488395,;CTSZ,non_coding_transcript_exon_variant,,ENST00000472025,;							HIGH	307/912		CATZ_HUMAN			Transcript			.	ENSP00000217131		CCDS13474.1			1	
CUX2	0	LGGM	GRCh37	12	111742051	111742051	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	5	2	.	.	ENST00000261726.6:c.791G>T	p.Arg264Leu	p.R264L	ENST00000261726	NM_015267.3	264	cGg/cTg	0	1	1	UPI00001FBB07	0	NA	ENST00000261726		ENSG00000111249	19347		7	2.125		HGNC	p.R264L		CUX2		SNV							ENST00000261726	protein_coding	getma.org/?cm=var&var=hg19,12,111742051,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5		R/L		T	medium	945/6844		getma.org/?cm=msa&ty=f&p=CUX2_HUMAN&rb=1&re=537&var=R264L	deleterious(0)	Q9BZX3_HUMAN,Q9BZV4_HUMAN			YES	CUX2,missense_variant,p.Arg264Leu,ENST00000261726,NM_015267.3;AC002979.1,downstream_gene_variant,,ENST00000408459,;							MODERATE	791/4461	R264L	CUX2_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000261726		CCDS41837.1			1	
PLEKHG6	0	LGGM	GRCh37	12	6437107	6437107	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	6	2	.	.	ENST00000396988.3:c.2358C>T	p.Ser786=	p.S786=	ENST00000396988	NM_001144856.1	786	tcC/tcT	0	1		UPI000013EFF6	0		ENST00000011684		ENSG00000008323	25562		8			HGNC	p.S786S	rs754245266	PLEKHG6		SNV							ENST00000396988	protein_coding			hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF13		S		T		2506/2881								PLEKHG6,synonymous_variant,p.=,ENST00000449001,NM_001144857.1;PLEKHG6,synonymous_variant,p.=,ENST00000396988,NM_001144856.1;PLEKHG6,synonymous_variant,p.=,ENST00000011684,NM_018173.3;PLEKHG6,synonymous_variant,p.=,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,;							LOW	2358/2373		PKHG6_HUMAN			Transcript			.	ENSP00000011684	1.70E-05	CCDS8541.1			1	
LRTOMT	0	LGGM	GRCh37	11	71819661	71819661	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	4	2	.	.	ENST00000435085.1:c.566del	p.Ile189ThrfsTer8	p.I189Tfs*8	ENST00000435085	NM_001145309.3	189	aTc/ac	0	1	1	UPI00019150CB	0		ENST00000435085		ENSG00000184154	25033		6			HGNC	p.I189fs		LRTOMT		deletion			1				ENST00000307198	protein_coding			Gene3D:3.40.50.150,Pfam_domain:PF01596,PROSITE_profiles:PS51682,hmmpanther:PTHR10509,hmmpanther:PTHR10509:SF1,Superfamily_domains:SSF53335		I/X		-		1658/3822							YES	LRTOMT,frameshift_variant,p.Ile189ThrfsTer8,ENST00000435085,NM_001145309.3;LRTOMT,frameshift_variant,p.Ile149ThrfsTer8,ENST00000419228,NM_001145310.3;LRTOMT,frameshift_variant,p.Ile189ThrfsTer8,ENST00000307198,NM_001145308.4;LRTOMT,frameshift_variant,p.Ser150ArgfsTer54,ENST00000439209,;ANAPC15,intron_variant,,ENST00000502597,;ANAPC15,intron_variant,,ENST00000543050,;ANAPC15,downstream_gene_variant,,ENST00000227618,NM_001278485.1,NM_014042.2,NM_001278491.1;ANAPC15,downstream_gene_variant,,ENST00000543587,NM_001278486.1;ANAPC15,downstream_gene_variant,,ENST00000545680,;ANAPC15,downstream_gene_variant,,ENST00000538393,NM_001278487.1;ANAPC15,downstream_gene_variant,,ENST00000538919,NM_001278494.1;ANAPC15,downstream_gene_variant,,ENST00000535234,NM_001278489.1;ANAPC15,downstream_gene_variant,,ENST00000542531,NM_001278493.1,NM_001278492.1;ANAPC15,downstream_gene_variant,,ENST00000535503,NM_001278488.1;ANAPC15,downstream_gene_variant,,ENST00000545944,NM_001278490.1;ANAPC15,downstream_gene_variant,,ENST00000537644,;ANAPC15,downstream_gene_variant,,ENST00000539395,;ANAPC15,downstream_gene_variant,,ENST00000545333,;ANAPC15,downstream_gene_variant,,ENST00000438939,;snoU13,downstream_gene_variant,,ENST00000459046,;ANAPC15,downstream_gene_variant,,ENST00000543015,;LRTOMT,3_prime_UTR_variant,,ENST00000427369,;LRTOMT,3_prime_UTR_variant,,ENST00000544409,;ANAPC15,downstream_gene_variant,,ENST00000538117,;LRTOMT,downstream_gene_variant,,ENST00000541899,;							HIGH	566/876		TOMT_HUMAN			Transcript			.	ENSP00000409789		CCDS44668.1			1	
TACSTD2	0	LGGM	GRCh37	1	59042150	59042150	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	11	2	.	.	ENST00000371225.2:c.679G>T	p.Glu227Ter	p.E227*	ENST00000371225	NM_002353.2	227	Gag/Tag	0	1	1	UPI000006EBAF	0	NA	ENST00000371225		ENSG00000184292	11530		13	0		HGNC	p.E227X		TACSTD2		SNV			1				ENST00000371225	protein_coding	getma.org/?cm=var&var=hg19,1,59042150,C,A&fts=all		hmmpanther:PTHR14168,hmmpanther:PTHR14168:SF3		E/*		A	NA	1017/2068		NA					YES	TACSTD2,stop_gained,p.Glu227Ter,ENST00000371225,NM_002353.2;							HIGH	679/972	E227*	TACD2_HUMAN			Transcript			.	ENSP00000360269		CCDS609.1			1	
RTF1	0	LGGM	GRCh37	15	41758372	41758372	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	10	2	.	.	ENST00000389629.4:c.811C>A	p.Arg271=	p.R271=	ENST00000389629	NM_015138.4	271	Cgg/Agg	0	1	1	UPI0000E23C14	0		ENST00000389629		ENSG00000137815	28996		12			HGNC	p.R271R		RTF1		SNV							ENST00000389629	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13115,hmmpanther:PTHR13115:SF8		R		A		823/5021				I7GPQ7_HUMAN			YES	RTF1,synonymous_variant,p.=,ENST00000389629,NM_015138.4;							LOW	811/2133		RTF1_HUMAN			Transcript			.	ENSP00000374280		CCDS32200.2			1	
ALKBH1	0	LGGM	GRCh37	14	78140537	78140537	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	21	2	.	.	ENST00000216489.3:c.788A>G	p.Glu263Gly	p.E263G	ENST00000216489	NM_006020.2	263	gAg/gGg	0	1	1	UPI000012585D	0	getma.org/pdb.php?prot=ALKB1_HUMAN&from=98&to=344&var=E263G	ENST00000216489		ENSG00000100601	17911		23	0.71		HGNC	p.E263G		ALKBH1		SNV							ENST00000216489	protein_coding	getma.org/?cm=var&var=hg19,14,78140537,T,C&fts=all		Superfamily_domains:SSF51197,Pfam_domain:PF13532,TIGRFAM_domain:TIGR00568,Gene3D:3i3qA00,hmmpanther:PTHR16557,PROSITE_profiles:PS51471		E/G		C	neutral	804/2594		getma.org/?cm=msa&ty=f&p=ALKB1_HUMAN&rb=98&re=344&var=E263G	tolerated(0.05)				YES	ALKBH1,missense_variant,p.Glu263Gly,ENST00000216489,NM_006020.2;ALKBH1,3_prime_UTR_variant,,ENST00000557057,;ALKBH1,3_prime_UTR_variant,,ENST00000555100,;							MODERATE	788/1170	E263G	ALKB1_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000216489		CCDS32127.1			1	
RYR1	0	LGGM	GRCh37	19	39034509	39034509	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	9	3	.	.	ENST00000359596.3:c.12006C>A	p.Leu4002=	p.L4002=	ENST00000359596		4002	ctC/ctA	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		12			HGNC	p.L3997L		RYR1		SNV			1				ENST00000355481	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		L		A		12006/15117				O75591_HUMAN,B4DET7_HUMAN			YES	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,;RYR1,3_prime_UTR_variant,,ENST00000593322,;							LOW	12006/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
PAPPA	0	LGGM	GRCh37	9	119109382	119109382	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	38	3	.	.	ENST00000328252.3:c.3858C>A	p.Ser1286Arg	p.S1286R	ENST00000328252	NM_002581.3	1286	agC/agA	0	1	1	UPI00001E0589	0	NA	ENST00000328252		ENSG00000182752	8602		41	-0.55		HGNC	p.S1286R		PAPPA		SNV							ENST00000328252	protein_coding	getma.org/?cm=var&var=hg19,9,119109382,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Pfam_domain:PF00084,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535		S/R		A	neutral	4227/10959		getma.org/?cm=msa&ty=f&p=PAPP1_HUMAN&rb=1280&re=1342&var=S1286R	tolerated(0.08)	Q5QFB7_HUMAN,F5GZ19_HUMAN			YES	PAPPA,missense_variant,p.Ser1286Arg,ENST00000328252,NM_002581.3;PAPPA,missense_variant,p.Ser324Arg,ENST00000534838,;							MODERATE	3858/4884	S1286R	PAPP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000330658		CCDS6813.1			1	
CPNE7	0	LGGM	GRCh37	16	89661824	89661824	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	27	3	.	.	ENST00000268720.5:c.1577C>T	p.Ala526Val	p.A526V	ENST00000268720	NM_014427.4	526	gCc/gTc	0	1	1	UPI0000127C17	0	NA	ENST00000268720		ENSG00000178773	2320		30	1.415		HGNC	p.A451V		CPNE7		SNV							ENST00000319518	protein_coding	getma.org/?cm=var&var=hg19,16,89661824,C,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF6,Pfam_domain:PF07002,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		A/V		T	low	1707/2657		getma.org/?cm=msa&ty=f&p=CPNE7_HUMAN&rb=401&re=548&var=A526V	tolerated(0.11)				YES	CPNE7,missense_variant,p.Ala526Val,ENST00000268720,NM_014427.4;CPNE7,missense_variant,p.Ala451Val,ENST00000319518,NM_153636.2;CPNE7,missense_variant,p.Ala171Val,ENST00000529800,;CPNE7,upstream_gene_variant,,ENST00000526232,;CPNE7,non_coding_transcript_exon_variant,,ENST00000566398,;CPNE7,upstream_gene_variant,,ENST00000564421,;CPNE7,synonymous_variant,p.=,ENST00000568977,;							MODERATE	1577/1902	A526V	CPNE7_HUMAN			Transcript		possibly_damaging(0.817)	.	ENSP00000268720		CCDS10980.1			1	
PRAM1	0	LGGM	GRCh37	19	8563503	8563503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	5	3	.	.	ENST00000423345.4:c.1189G>T	p.Val397Leu	p.V397L	ENST00000423345		397	Gtg/Ttg	0	1	1	UPI00001AE786	0	NA	ENST00000423345		ENSG00000133246	30091		8	2.005		HGNC	p.V397L		PRAM1		SNV							ENST00000255612	protein_coding	getma.org/?cm=var&var=hg19,19,8563503,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16830:SF6,hmmpanther:PTHR16830		V/L		A	medium	1710/2667		getma.org/?cm=msa&ty=f&p=PRAM_HUMAN&rb=283&re=482&var=V445L	tolerated(0.11)				YES	PRAM1,missense_variant,p.Val397Leu,ENST00000423345,;PRAM1,missense_variant,p.Val397Leu,ENST00000255612,NM_032152.4;PRAM1,downstream_gene_variant,,ENST00000600262,;							MODERATE	1189/2013	V445L	PRAM_HUMAN			Transcript		benign(0.032)	.	ENSP00000408342		CCDS45954.2			1	
INTS4	0	LGGM	GRCh37	11	77590156	77590156	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	47	3	.	.	ENST00000534064.1:c.2731G>T	p.Val911Leu	p.V911L	ENST00000534064	NM_033547.3	911	Gtg/Ttg	0	1	1	UPI00001FB00A	0	NA	ENST00000534064		ENSG00000149262	25048		50	0		HGNC	p.V911L		INTS4		SNV							ENST00000534064	protein_coding	getma.org/?cm=var&var=hg19,11,77590156,C,A&fts=all		hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0		V/L		A	neutral	2766/3156		getma.org/?cm=msa&ty=f&p=INT4_HUMAN&rb=727&re=926&var=V911L	tolerated(0.15)				YES	INTS4,missense_variant,p.Val911Leu,ENST00000534064,NM_033547.3;INTS4,missense_variant,p.Val286Leu,ENST00000535943,;AAMDC,intron_variant,,ENST00000527134,;AAMDC,intron_variant,,ENST00000532481,;AAMDC,intron_variant,,ENST00000304716,;INTS4,3_prime_UTR_variant,,ENST00000433818,;AAMDC,intron_variant,,ENST00000526164,;AAMDC,intron_variant,,ENST00000529666,;							MODERATE	2731/2892	V911L	INT4_HUMAN			Transcript		benign(0.005)	.	ENSP00000434466		CCDS31644.1			1	
MYL11	0	LGGM	GRCh37	16	30389157	30389157	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	17	3	.	.	ENST00000322861.7:c.446G>A	p.Gly149Asp	p.G149D	ENST00000322861	NM_013292.3	149	gGc/gAc	0	1	1	UPI0000070AC6	0	getma.org/pdb.php?prot=MLRS_HUMAN&from=131&to=166&var=G149D	ENST00000322861		ENSG00000180209	29824		20	3.485		HGNC	p.G149D		MYLPF		SNV							ENST00000322861	protein_coding	getma.org/?cm=var&var=hg19,16,30389157,G,A&fts=all		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF10,Superfamily_domains:SSF47473		G/D		A	medium	527/682		getma.org/?cm=msa&ty=f&p=MLRS_HUMAN&rb=131&re=166&var=G149D	deleterious(0.01)	H3BN54_HUMAN,H3BML9_HUMAN			YES	MYLPF,missense_variant,p.Gly149Asp,ENST00000322861,NM_013292.3;MYLPF,missense_variant,p.Gly179Asp,ENST00000566955,;SEPT1,downstream_gene_variant,,ENST00000321367,NM_052838.4;SEPT1,downstream_gene_variant,,ENST00000571393,;SEPT1,downstream_gene_variant,,ENST00000605106,;SEPT1,downstream_gene_variant,,ENST00000566517,;MYLPF,downstream_gene_variant,,ENST00000568749,;MYLPF,downstream_gene_variant,,ENST00000563718,;ZNF48,upstream_gene_variant,,ENST00000528032,;ZNF48,upstream_gene_variant,,ENST00000495929,;SEPT1,downstream_gene_variant,,ENST00000570039,;SEPT1,downstream_gene_variant,,ENST00000567783,;MYLPF,non_coding_transcript_exon_variant,,ENST00000563728,;SEPT1,downstream_gene_variant,,ENST00000563957,;SEPT1,downstream_gene_variant,,ENST00000573615,;SEPT1,downstream_gene_variant,,ENST00000572252,;SEPT1,downstream_gene_variant,,ENST00000568577,;SEPT1,downstream_gene_variant,,ENST00000563743,;SEPT1,downstream_gene_variant,,ENST00000562152,;							MODERATE	446/510	G149D	MLRS_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000325239		CCDS10677.1			1	
MAN2B2	0	LGGM	GRCh37	4	6598998	6598998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	39	3	.	.	ENST00000285599.3:c.1216C>A	p.Gln406Lys	p.Q406K	ENST00000285599	NM_015274.1	406	Cag/Aag	0	1	1	UPI000004BF05	0	NA	ENST00000285599		ENSG00000013288	29623		42	0.35		HGNC	p.Q355K		MAN2B2		SNV							ENST00000504248	protein_coding	getma.org/?cm=var&var=hg19,4,6598998,C,A&fts=all		Gene3D:3bvxA02,Pfam_domain:PF09261,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,Low_complexity_(Seg):seg,SMART_domains:SM00872,Superfamily_domains:SSF88688		Q/K		A	neutral	1252/5143		getma.org/?cm=msa&ty=f&p=MA2B2_HUMAN&rb=356&re=439&var=Q406K	tolerated(0.33)	Q05BN7_HUMAN,B3KQN1_HUMAN			YES	MAN2B2,missense_variant,p.Gln405Lys,ENST00000505907,;MAN2B2,missense_variant,p.Gln406Lys,ENST00000285599,NM_015274.1;MAN2B2,missense_variant,p.Gln355Lys,ENST00000504248,;							MODERATE	1216/3030	Q406K	MA2B2_HUMAN			Transcript		benign(0.268)	.	ENSP00000285599		CCDS33951.1			1	
RILPL1	0	LGGM	GRCh37	12	123970351	123970351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	23	3	.	.	ENST00000376874.4:c.803C>A	p.Thr268Lys	p.T268K	ENST00000376874	NM_178314.3	268	aCg/aAg	0	1	1	UPI00004CEC2A	0	NA	ENST00000376874		ENSG00000188026	26814		26	1.735		HGNC	p.T116K		RILPL1		SNV							ENST00000340724	protein_coding	getma.org/?cm=var&var=hg19,12,123970351,G,T&fts=all		hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF6,Low_complexity_(Seg):seg		T/K		T	low	1039/2608		getma.org/?cm=msa&ty=f&p=RIPL1_HUMAN&rb=178&re=294&var=T268K	tolerated(0.9)	F5H6W5_HUMAN			YES	RILPL1,missense_variant,p.Thr268Lys,ENST00000376874,NM_178314.3;RILPL1,missense_variant,p.Thr116Lys,ENST00000340724,;RILPL1,upstream_gene_variant,,ENST00000544468,;							MODERATE	803/1212	T268K	RIPL1_HUMAN			Transcript		benign(0.014)	.	ENSP00000366070		CCDS45006.1			1	
MTMR10	0	LGGM	GRCh37	15	31233926	31233926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	16	3	.	.	ENST00000435680.1:c.2081G>T	p.Arg694Met	p.R694M	ENST00000435680	NM_017762.2	694	aGg/aTg	0	1	1	UPI00001FE130	0	NA	ENST00000435680		ENSG00000166912	25999		19	1.79		HGNC	p.R694M		MTMR10		SNV							ENST00000435680	protein_coding	getma.org/?cm=var&var=hg19,15,31233926,C,A&fts=all		Pfam_domain:PF12578,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF39		R/M		A	low	2179/4961		getma.org/?cm=msa&ty=f&p=MTMRA_HUMAN&rb=573&re=710&var=R694M	deleterious(0.02)	B4E157_HUMAN			YES	MTMR10,missense_variant,p.Arg694Met,ENST00000435680,NM_017762.2;FAN1,3_prime_UTR_variant,,ENST00000362065,NM_014967.4;MTMR10,3_prime_UTR_variant,,ENST00000425768,;MTMR10,intron_variant,,ENST00000314404,;MTMR10,downstream_gene_variant,,ENST00000563714,;MTMR10,downstream_gene_variant,,ENST00000566981,;MTMR10,3_prime_UTR_variant,,ENST00000568604,;FAN1,3_prime_UTR_variant,,ENST00000565280,;MTMR10,3_prime_UTR_variant,,ENST00000567567,;MTMR10,non_coding_transcript_exon_variant,,ENST00000566338,;MTMR10,intron_variant,,ENST00000568547,;							MODERATE	2081/2334	R694M	MTMRA_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000402537		CCDS45204.1			1	
SHPK	0	LGGM	GRCh37	17	3518760	3518760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	16	3	.	.	ENST00000225519.3:c.895G>T	p.Asp299Tyr	p.D299Y	ENST00000225519	NM_013276.2	299	Gac/Tac	0	1	1	UPI000013C86F	0	NA	ENST00000225519		ENSG00000197417	1492		19	2.19		HGNC	p.D299Y		SHPK		SNV							ENST00000572919	protein_coding	getma.org/?cm=var&var=hg19,17,3518760,C,A&fts=all		hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF22,Superfamily_domains:SSF53067		D/Y		A	medium	998/3838		getma.org/?cm=msa&ty=f&p=SHPK_HUMAN&rb=266&re=465&var=D299Y	deleterious(0)				YES	SHPK,missense_variant,p.Asp299Tyr,ENST00000225519,NM_013276.2;SHPK,missense_variant,p.Asp299Tyr,ENST00000572919,;RP11-235E17.5,downstream_gene_variant,,ENST00000575326,;							MODERATE	895/1437	D299Y	SHPK_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000225519		CCDS11030.1			1	
SETD6	0	LGGM	GRCh37	16	58550526	58550526	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	28	4	.	.	ENST00000219315.4:c.621T>C	p.Val207=	p.V207=	ENST00000219315		207	gtT/gtC	0	1	1	UPI000013C779	0		ENST00000219315		ENSG00000103037	26116		32			HGNC	p.V198V		SETD6		SNV							ENST00000422445	protein_coding			PROSITE_profiles:PS50280,hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Pfam_domain:PF00856,Gene3D:2h21C01,PIRSF_domain:PIRSF011771,Superfamily_domains:SSF82199		V		C		671/1553							YES	SETD6,synonymous_variant,p.=,ENST00000394266,;SETD6,synonymous_variant,p.=,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,synonymous_variant,p.=,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,;NDRG4,downstream_gene_variant,,ENST00000356752,NM_001242833.1;NDRG4,downstream_gene_variant,,ENST00000569923,;NDRG4,downstream_gene_variant,,ENST00000568640,;NDRG4,downstream_gene_variant,,ENST00000569408,;SETD6,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,synonymous_variant,p.=,ENST00000427443,;SETD6,synonymous_variant,p.=,ENST00000422445,;SETD6,non_coding_transcript_exon_variant,,ENST00000467320,;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,upstream_gene_variant,,ENST00000463954,;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,;							LOW	621/1422		SETD6_HUMAN			Transcript			.	ENSP00000219315		CCDS54013.1			1	
SETD6	0	LGGM	GRCh37	16	58550512	58550512	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	25	5	.	.	ENST00000219315.4:c.607T>G	p.Phe203Val	p.F203V	ENST00000219315		203	Ttc/Gtc	0	1	1	UPI000013C779	0	getma.org/pdb.php?prot=SETD6_HUMAN&from=74&to=286&var=F203V	ENST00000219315		ENSG00000103037	26116		30	2.955		HGNC	p.F194V		SETD6		SNV							ENST00000422445	protein_coding	getma.org/?cm=var&var=hg19,16,58550512,T,G&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Pfam_domain:PF00856,Gene3D:2h21C01,PIRSF_domain:PIRSF011771,Superfamily_domains:SSF82199		F/V		G	medium	657/1553		getma.org/?cm=msa&ty=f&p=SETD6_HUMAN&rb=74&re=286&var=F203V	deleterious(0.01)				YES	SETD6,missense_variant,p.Phe179Val,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,missense_variant,p.Phe203Val,ENST00000219315,;SETD6,splice_region_variant,,ENST00000394266,;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,;NDRG4,downstream_gene_variant,,ENST00000356752,NM_001242833.1;NDRG4,downstream_gene_variant,,ENST00000569923,;NDRG4,downstream_gene_variant,,ENST00000568640,;NDRG4,downstream_gene_variant,,ENST00000569408,;SETD6,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,missense_variant,p.Phe179Val,ENST00000427443,;SETD6,missense_variant,p.Phe194Val,ENST00000422445,;SETD6,non_coding_transcript_exon_variant,,ENST00000467320,;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,upstream_gene_variant,,ENST00000463954,;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,;							MODERATE	607/1422	F203V	SETD6_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000219315		CCDS54013.1			1	
SETD6	0	LGGM	GRCh37	16	58550492	58550492	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	33	5	.	.	ENST00000219315.4:c.587T>C	p.Met196Thr	p.M196T	ENST00000219315		196	aTg/aCg	0	1	1	UPI000013C779	0	getma.org/pdb.php?prot=SETD6_HUMAN&from=74&to=286&var=M196T	ENST00000219315		ENSG00000103037	26116		38	1.04		HGNC	p.M187T		SETD6		SNV							ENST00000422445	protein_coding	getma.org/?cm=var&var=hg19,16,58550492,T,C&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Pfam_domain:PF00856,Gene3D:2h21C01,PIRSF_domain:PIRSF011771,Superfamily_domains:SSF82199		M/T		C	low	637/1553		getma.org/?cm=msa&ty=f&p=SETD6_HUMAN&rb=74&re=286&var=M196T	deleterious(0.03)				YES	SETD6,missense_variant,p.Met172Thr,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,missense_variant,p.Met196Thr,ENST00000219315,;SETD6,intron_variant,,ENST00000394266,;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,;NDRG4,downstream_gene_variant,,ENST00000356752,NM_001242833.1;NDRG4,downstream_gene_variant,,ENST00000569923,;NDRG4,downstream_gene_variant,,ENST00000568640,;NDRG4,downstream_gene_variant,,ENST00000569408,;SETD6,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,missense_variant,p.Met172Thr,ENST00000427443,;SETD6,missense_variant,p.Met187Thr,ENST00000422445,;SETD6,non_coding_transcript_exon_variant,,ENST00000467320,;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,upstream_gene_variant,,ENST00000463954,;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,;							MODERATE	587/1422	M196T	SETD6_HUMAN			Transcript		benign(0.055)	.	ENSP00000219315		CCDS54013.1			1	
CCDC105	0	LGGM	GRCh37	19	15132241	15132241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	14	6	.	.	ENST00000292574.3:c.951C>A	p.Asn317Lys	p.N317K	ENST00000292574	NM_173482.2	317	aaC/aaA	0	1	1	UPI0000073091	0	NA	ENST00000292574		ENSG00000160994	26866		20	1.95		HGNC	p.N317K		CCDC105		SNV							ENST00000292574	protein_coding	getma.org/?cm=var&var=hg19,19,15132241,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03148		N/K		A	medium	1033/1732		getma.org/?cm=msa&ty=f&p=CC105_HUMAN&rb=121&re=471&var=N317K	tolerated(0.06)				YES	CCDC105,missense_variant,p.Asn317Lys,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;							MODERATE	951/1500	N317K	CC105_HUMAN			Transcript		possibly_damaging(0.61)	.	ENSP00000292574		CCDS12322.1			1	
ZCCHC5	0	LGGM	GRCh37	X	77913738	77913738	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	4	7	.	.	ENST00000321110.1:c.180G>T	p.Glu60Asp	p.E60D	ENST00000321110	NM_152694.2	60	gaG/gaT	0	1	1	UPI00000710DD	0	NA	ENST00000321110		ENSG00000179300	22997		11	0.695		HGNC	p.E60D		ZCCHC5		SNV							ENST00000321110	protein_coding	getma.org/?cm=var&var=hg19,X,77913738,C,A&fts=all		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7		E/D		A	neutral	476/2648		getma.org/?cm=msa&ty=f&p=ZCHC5_HUMAN&rb=1&re=229&var=E60D	tolerated(0.1)				YES	ZCCHC5,missense_variant,p.Glu60Asp,ENST00000321110,NM_152694.2;							MODERATE	180/1428	E60D	ZCHC5_HUMAN			Transcript		benign(0.045)	.	ENSP00000316794		CCDS14440.1			1	
MAP3K1	0	LGGM	GRCh37	5	56176933	56176933	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	18	7	.	.	ENST00000399503.3:c.2203G>T	p.Asp735Tyr	p.D735Y	ENST00000399503	NM_005921.1	735	Gat/Tat	0	1	1	UPI000015153B	0	NA	ENST00000399503		ENSG00000095015	6848		25	1.7		HGNC	p.D735Y		MAP3K1		SNV			1				ENST00000399503	protein_coding	getma.org/?cm=var&var=hg19,5,56176933,G,T&fts=all		hmmpanther:PTHR24361:SF255,hmmpanther:PTHR24361,Superfamily_domains:SSF48371		D/Y		T	low	2203/7011		getma.org/?cm=msa&ty=f&p=M3K1_HUMAN&rb=464&re=1242&var=D735Y	deleterious(0)				YES	MAP3K1,missense_variant,p.Asp735Tyr,ENST00000399503,NM_005921.1;MAP3K1,upstream_gene_variant,,ENST00000469188,;							MODERATE	2203/4539	D735Y	M3K1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000382423		CCDS43318.1			1	
AKT1	0	LGGM	GRCh37	14	105246551	105246551	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	9	7	.	.	ENST00000349310.3:c.49G>A	p.Glu17Lys	p.E17K	ENST00000349310	NM_001014432.1	17	Gag/Aag	0	1		UPI0000070813	0	getma.org/pdb.php?prot=AKT1_HUMAN&from=6&to=108&var=E17K	ENST00000349310	pathogenic	ENSG00000142208	391		16	2.175		HGNC	p.E17K	rs121434592,COSM33765	AKT1		SNV			1			1,1	ENST00000407796	protein_coding	getma.org/?cm=var&var=hg19,14,105246551,C,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF30,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		E/K		T	medium	480/2866		getma.org/?cm=msa&ty=f&p=AKT1_HUMAN&rb=6&re=108&var=E17K	deleterious(0)	B0LPE5_HUMAN,Q9BV07_HUMAN,G3V4I6_HUMAN,G3V3K5_HUMAN,B7Z5R1_HUMAN,B3KXD7_HUMAN				AKT1,missense_variant,p.Glu17Lys,ENST00000554581,;AKT1,missense_variant,p.Glu17Lys,ENST00000402615,;AKT1,missense_variant,p.Glu17Lys,ENST00000555528,NM_005163.2;AKT1,missense_variant,p.Glu17Lys,ENST00000349310,NM_001014432.1;AKT1,missense_variant,p.Glu17Lys,ENST00000407796,NM_001014431.1;AKT1,missense_variant,p.Glu17Lys,ENST00000554848,;AKT1,missense_variant,p.Glu17Lys,ENST00000555926,;AKT1,splice_region_variant,,ENST00000555380,;AKT1,upstream_gene_variant,,ENST00000544168,;AKT1,upstream_gene_variant,,ENST00000557552,;AKT1,upstream_gene_variant,,ENST00000556836,;AKT1,upstream_gene_variant,,ENST00000554826,;					0,1		MODERATE	49/1443	E17K	AKT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000270202		CCDS9994.1			1	
L3MBTL2	0	LGGM	GRCh37	22	41623818	41623818	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	19	8	.	.	ENST00000216237.5:c.1833A>T	p.Thr611=	p.T611=	ENST00000216237	NM_031488.4	611	acA/acT	0	1	1	UPI000012E77E	0		ENST00000216237		ENSG00000100395	18594		27			HGNC	p.T611T		L3MBTL2		SNV							ENST00000216237	protein_coding			hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF64,Gene3D:2.30.30.160		T		T		1991/3296							YES	L3MBTL2,synonymous_variant,p.=,ENST00000216237,NM_031488.4;CHADL,downstream_gene_variant,,ENST00000216241,NM_138481.1;CHADL,downstream_gene_variant,,ENST00000417999,;L3MBTL2,3_prime_UTR_variant,,ENST00000452106,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,;L3MBTL2,downstream_gene_variant,,ENST00000481902,;L3MBTL2,downstream_gene_variant,,ENST00000450939,;							LOW	1833/2118		LMBL2_HUMAN			Transcript			.	ENSP00000216237		CCDS14011.1			1	
GALNT15	0	LGGM	GRCh37	3	16242148	16242148	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	13	8	.	.	ENST00000339732.5:c.729C>T	p.Ser243=	p.S243=	ENST00000339732	NM_054110.4	243	agC/agT	0	1	1	UPI0000048F0D	0		ENST00000339732		ENSG00000131386	21531		21			HGNC	p.R83X	rs764567497	GALNT15		SNV							ENST00000430410	protein_coding			hmmpanther:PTHR11675:SF36,hmmpanther:PTHR11675,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		S		T		1232/4669	1.58E-05			B3KT16_HUMAN			YES	GALNT15,synonymous_variant,p.=,ENST00000339732,NM_054110.4;GALNT15,synonymous_variant,p.=,ENST00000437509,;GALNT15,stop_gained,p.Arg83Ter,ENST00000430410,;							LOW	729/1920		GLT15_HUMAN			Transcript			.	ENSP00000344260	8.24E-06	CCDS33711.1			1	
PML	0	LGGM	GRCh37	15	74325495	74325495	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	25	10	.	.	ENST00000268058.3:c.1399-2A>T		p.X467_splice	ENST00000268058	NM_033238.2			0	1	1	UPI000013D78F	0		ENST00000268058		ENSG00000140464	9113		35			HGNC	-		PML		SNV			1				ENST00000395135	protein_coding							T		-/4508				Q9UE85_HUMAN,Q05835_HUMAN			YES	PML,splice_acceptor_variant,,ENST00000565898,;PML,splice_acceptor_variant,,ENST00000268058,NM_033238.2;PML,splice_acceptor_variant,,ENST00000563500,;PML,splice_acceptor_variant,,ENST00000435786,NM_033240.2;PML,splice_acceptor_variant,,ENST00000268059,NM_033239.2,NM_033244.3;PML,splice_acceptor_variant,,ENST00000436891,;PML,splice_acceptor_variant,,ENST00000354026,NM_033250.2;PML,splice_acceptor_variant,,ENST00000569477,;PML,splice_acceptor_variant,,ENST00000562086,;PML,splice_acceptor_variant,,ENST00000395135,NM_002675.3;PML,splice_acceptor_variant,,ENST00000569965,;PML,splice_acceptor_variant,,ENST00000567606,;PML,splice_acceptor_variant,,ENST00000564428,NM_033249.2;PML,splice_acceptor_variant,,ENST00000566068,;PML,intron_variant,,ENST00000395132,NM_033247.2;PML,intron_variant,,ENST00000359928,NM_033246.2;PML,intron_variant,,ENST00000567543,;PML,intron_variant,,ENST00000565239,;PML,downstream_gene_variant,,ENST00000569161,;PML,splice_acceptor_variant,,ENST00000570213,;PML,downstream_gene_variant,,ENST00000564725,;							HIGH	1399/2649		PML_HUMAN			Transcript			.	ENSP00000268058		CCDS10255.1			1	
PDE8B	0	LGGM	GRCh37	5	76624843	76624843	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	22	10	.	.	ENST00000264917.5:c.611C>T	p.Pro204Leu	p.P204L	ENST00000264917	NM_003719.3	204	cCc/cTc	0	1	1	UPI0000001BBE	0	NA	ENST00000264917		ENSG00000113231	8794		32	0.55		HGNC	p.P204L		PDE8B		SNV			1				ENST00000340978	protein_coding	getma.org/?cm=var&var=hg19,5,76624843,C,T&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF00072,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF98		P/L		T	neutral	656/5956		getma.org/?cm=msa&ty=f&p=PDE8B_HUMAN&rb=134&re=252&var=P204L	tolerated(0.68)	Q3ZCR2_HUMAN,D6RH10_HUMAN,D6R9W0_HUMAN,B3KN77_HUMAN			YES	PDE8B,missense_variant,p.Pro204Leu,ENST00000264917,NM_003719.3;PDE8B,missense_variant,p.Pro204Leu,ENST00000340978,NM_001029854.2;PDE8B,missense_variant,p.Pro204Leu,ENST00000346042,NM_001029851.2;PDE8B,missense_variant,p.Pro184Leu,ENST00000342343,NM_001029853.2;PDE8B,missense_variant,p.Pro204Leu,ENST00000333194,NM_001029852.2;PDE8B,missense_variant,p.Pro80Leu,ENST00000505926,;PDE8B,missense_variant,p.Pro80Leu,ENST00000502945,;PDE8B,5_prime_UTR_variant,,ENST00000503963,;							MODERATE	611/2658	P204L	PDE8B_HUMAN			Transcript		benign(0.107)	.	ENSP00000264917		CCDS4037.1			1	
MRPS12	0	LGGM	GRCh37	19	39423120	39423120	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	17	10	.	.	ENST00000407800.2:c.197T>G	p.Phe66Cys	p.F66C	ENST00000407800	NM_021107.1	66	tTt/tGt	0	1		UPI0000135267	0	getma.org/pdb.php?prot=RT12_HUMAN&from=31&to=138&var=F66C	ENST00000308018		ENSG00000128626	10380		27	2.37		HGNC	p.F66C		MRPS12		SNV							ENST00000407800	protein_coding	getma.org/?cm=var&var=hg19,19,39423120,T,G&fts=all		hmmpanther:PTHR11652,TIGRFAM_domain:TIGR00981,Pfam_domain:PF00164,Gene3D:2.40.50.140,PIRSF_domain:PIRSF002133,Superfamily_domains:SSF50249,Prints_domain:PR01034		F/C		G	medium	667/1207		getma.org/?cm=msa&ty=f&p=RT12_HUMAN&rb=31&re=138&var=F66C	deleterious(0.03)					MRPS12,missense_variant,p.Phe66Cys,ENST00000407800,NM_021107.1;MRPS12,missense_variant,p.Phe66Cys,ENST00000308018,NM_033362.3;MRPS12,missense_variant,p.Phe66Cys,ENST00000402029,NM_033363.1;CTC-360G5.8,intron_variant,,ENST00000599996,;SARS2,intron_variant,,ENST00000448145,;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,;							MODERATE	197/417	F66C	RT12_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000308845		CCDS12525.1			1	
ANGPTL2	0	LGGM	GRCh37	9	129870216	129870216	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	14	11	.	.	ENST00000373425.3:c.795A>T	p.Pro265=	p.P265=	ENST00000373425	NM_012098.2	265	ccA/ccT	0	1	1	UPI0000049E07	0		ENST00000373425		ENSG00000136859	490		25			HGNC	p.P265P		ANGPTL2		SNV							ENST00000373425	protein_coding			hmmpanther:PTHR19143:SF24,hmmpanther:PTHR19143,Low_complexity_(Seg):seg		P		A		1413/3707				Q8NCH7_HUMAN,Q8N2J9_HUMAN			YES	ANGPTL2,synonymous_variant,p.=,ENST00000373425,NM_012098.2;RALGPS1,intron_variant,,ENST00000259351,NM_014636.2;ANGPTL2,intron_variant,,ENST00000373417,;RALGPS1,intron_variant,,ENST00000373434,NM_001190728.1;RALGPS1,intron_variant,,ENST00000424082,NM_001190729.1;RALGPS1,intron_variant,,ENST00000394022,;RALGPS1,intron_variant,,ENST00000373436,NM_001190730.1;ANGPTL2,non_coding_transcript_exon_variant,,ENST00000491991,;ANGPTL2,non_coding_transcript_exon_variant,,ENST00000470194,;							LOW	795/1482		ANGL2_HUMAN			Transcript			.	ENSP00000362524		CCDS6868.1			1	
ANKRD17	0	LGGM	GRCh37	4	74005299	74005299	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	19	11	.	.	ENST00000358602.4:c.3034G>T	p.Val1012Leu	p.V1012L	ENST00000358602	NM_032217.3	1012	Gta/Tta	0	1	1	UPI00002263B0	0	NA	ENST00000358602		ENSG00000132466	23575		30	1.935		HGNC	p.V1012L		ANKRD17		SNV							ENST00000358602	protein_coding	getma.org/?cm=var&var=hg19,4,74005299,C,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206		V/L		A	medium	3151/10784		getma.org/?cm=msa&ty=f&p=ANR17_HUMAN&rb=927&re=1065&var=V1012L					YES	ANKRD17,missense_variant,p.Val1012Leu,ENST00000358602,NM_032217.3;ANKRD17,missense_variant,p.Val897Leu,ENST00000558247,;ANKRD17,missense_variant,p.Val899Leu,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Val380Leu,ENST00000561029,;ANKRD17,intron_variant,,ENST00000330838,NM_198889.1;ANKRD17,non_coding_transcript_exon_variant,,ENST00000514252,;ANKRD17,intron_variant,,ENST00000560372,;							MODERATE	3034/7812	V1012L	ANR17_HUMAN			Transcript		benign(0.2)	.	ENSP00000351416		CCDS34004.1			1	
LRP8	0	LGGM	GRCh37	1	53741417	53741417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	9	11	.	.	ENST00000306052.6:c.892A>T	p.Thr298Ser	p.T298S	ENST00000306052	NM_004631.4	298	Acc/Tcc	0	1	1	UPI00001AF338	0	getma.org/pdb.php?prot=LRP8_HUMAN&from=297&to=333&var=T298S	ENST00000306052		ENSG00000157193	6700		20	1.27		HGNC	p.T298S		LRP8		SNV			1				ENST00000371454	protein_coding	getma.org/?cm=var&var=hg19,1,53741417,T,A&fts=all		Superfamily_domains:SSF57424,SMART_domains:SM00192,Pfam_domain:PF00057,Gene3D:4.10.400.10,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF99,PROSITE_profiles:PS50068		T/S		A	low	994/4467		getma.org/?cm=msa&ty=f&p=LRP8_HUMAN&rb=297&re=333&var=T298S	tolerated(0.05)				YES	LRP8,missense_variant,p.Thr298Ser,ENST00000306052,NM_004631.4;LRP8,missense_variant,p.Thr298Ser,ENST00000371454,NM_001018054.2;LRP8,missense_variant,p.Thr169Ser,ENST00000354412,NM_017522.4;LRP8,5_prime_UTR_variant,,ENST00000465675,;LRP8,intron_variant,,ENST00000347547,NM_033300.3;LRP8,upstream_gene_variant,,ENST00000475501,;LRP8,missense_variant,p.Thr298Ser,ENST00000480045,;							MODERATE	892/2892	T298S	LRP8_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000303634		CCDS578.1			1	
SLC6A15	0	LGGM	GRCh37	12	85260820	85260820	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	49	11	.	.	ENST00000266682.5:c.1648A>T	p.Ile550Leu	p.I550L	ENST00000266682	NM_182767.5	550	Ata/Tta	0	1	1	UPI0000038BF2	0	NA	ENST00000266682		ENSG00000072041	13621		60	0.395		HGNC	p.I443L		SLC6A15		SNV							ENST00000552192	protein_coding	getma.org/?cm=var&var=hg19,12,85260820,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		I/L		A	neutral	2190/4044		getma.org/?cm=msa&ty=f&p=S6A15_HUMAN&rb=61&re=644&var=I550L	tolerated(0.88)	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN			YES	SLC6A15,missense_variant,p.Ile550Leu,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Ile258Leu,ENST00000309283,;SLC6A15,missense_variant,p.Ile443Leu,ENST00000552192,NM_001146335.2;SLC6A15,downstream_gene_variant,,ENST00000551818,;SLC6A15,non_coding_transcript_exon_variant,,ENST00000548267,;							MODERATE	1648/2193	I550L	S6A15_HUMAN			Transcript		benign(0.175)	.	ENSP00000266682		CCDS9026.1			1	
MRPS15	0	LGGM	GRCh37	1	36921964	36921964	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	22	11	.	.	ENST00000373116.5:c.460C>T	p.Arg154Cys	p.R154C	ENST00000373116	NM_031280.3	154	Cgc/Tgc	0	1	1	UPI0000135287	0	getma.org/pdb.php?prot=RT15_HUMAN&from=106&to=188&var=R154C	ENST00000373116		ENSG00000116898	14504		33	3.67		HGNC	p.R154C	COSM302678	MRPS15		SNV						1	ENST00000373116	protein_coding	getma.org/?cm=var&var=hg19,1,36921964,G,A&fts=all		Superfamily_domains:SSF47060,Pfam_domain:PF00312,Gene3D:1.10.287.10,hmmpanther:PTHR23321:SF26,hmmpanther:PTHR23321,HAMAP:MF_01343_B		R/C		A	high	622/1006		getma.org/?cm=msa&ty=f&p=RT15_HUMAN&rb=106&re=188&var=R154C	deleterious(0.02)	D3DPS9_HUMAN			YES	MRPS15,missense_variant,p.Arg154Cys,ENST00000373116,NM_031280.3;MRPS15,non_coding_transcript_exon_variant,,ENST00000488606,;MRPS15,non_coding_transcript_exon_variant,,ENST00000462067,;MRPS15,non_coding_transcript_exon_variant,,ENST00000477040,;					1		MODERATE	460/774	R154C	RT15_HUMAN			Transcript		benign(0.303)	.	ENSP00000362208		CCDS411.1			1	
IQCA1	0	LGGM	GRCh37	2	237349769	237349769	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	15	12	.	.	ENST00000409907.3:c.927-2A>G		p.X309_splice	ENST00000409907	NM_024726.4			0	1	1	UPI000000DA5B	0		ENST00000409907		ENSG00000132321	26195		27			HGNC	-		IQCA1		SNV							ENST00000409907	protein_coding							C		-/3281				Q53SG8_HUMAN			YES	IQCA1,splice_acceptor_variant,,ENST00000409907,NM_024726.4;IQCA1,splice_acceptor_variant,,ENST00000309507,NM_001270585.1;IQCA1,splice_acceptor_variant,,ENST00000431676,NM_001270584.1;IQCA1,splice_acceptor_variant,,ENST00000418802,;IQCA1,splice_acceptor_variant,,ENST00000465621,;IQCA1,splice_acceptor_variant,,ENST00000254653,;							HIGH	927/2469		IQCA1_HUMAN			Transcript			.	ENSP00000387347		CCDS46549.1			1	
GSTK1	0	LGGM	GRCh37	7	142961188	142961188	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	47	12	.	.	ENST00000479303.1:c.82C>A	p.Arg28=	p.R28=	ENST00000479303	NM_001143679.1	28	Cgg/Agg	0	1		UPI000013C81A	0		ENST00000358406		ENSG00000197448	16906		59			HGNC	p.R28R		GSTK1		SNV							ENST00000443571	protein_coding			Superfamily_domains:SSF52833,PIRSF_domain:PIRSF006386,Pfam_domain:PF01323,Gene3D:3.40.30.10,hmmpanther:PTHR13887		R		A		153/1044				Q6FII1_HUMAN				GSTK1,synonymous_variant,p.=,ENST00000479303,NM_001143679.1;GSTK1,synonymous_variant,p.=,ENST00000358406,NM_015917.2;GSTK1,synonymous_variant,p.=,ENST00000409500,NM_001143680.1;GSTK1,synonymous_variant,p.=,ENST00000443571,NM_001143681.1;GSTK1,synonymous_variant,p.=,ENST00000436038,;AC073342.12,intron_variant,,ENST00000427392,;GSTK1,non_coding_transcript_exon_variant,,ENST00000494735,;GSTK1,synonymous_variant,p.=,ENST00000442394,;GSTK1,non_coding_transcript_exon_variant,,ENST00000473649,;GSTK1,non_coding_transcript_exon_variant,,ENST00000489654,;							LOW	82/681		GSTK1_HUMAN			Transcript			.	ENSP00000351181		CCDS5877.1			1	
PLEC	0	LGGM	GRCh37	8	144997327	144997327	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	13	12	.	.	ENST00000322810.4:c.7181G>A	p.Arg2394His	p.R2394H	ENST00000322810	NM_201380.2	2394	cGt/cAt	0	1	1	UPI0000233FCD	0	NA	ENST00000322810		ENSG00000178209	9069	8.85E-05	25	0		HGNC	p.R2280H	rs376311731	PLEC	6.17E-05	SNV	T:0		1				ENST00000527096	protein_coding	getma.org/?cm=var&var=hg19,8,144997327,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247		R/H	T:0.0001	T	neutral	7351/15249	7.88E-05	getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=2201&re=2400&var=R2394H		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Arg2394His,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Arg2257His,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Arg2284His,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Arg2235His,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Arg2257His,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Arg2261His,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Arg2243His,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Arg2225His,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Arg2280His,ENST00000527096,;PLEC,intron_variant,,ENST00000527303,;							MODERATE	7181/14055	R2394H	PLEC_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000323856	5.77E-05	CCDS43772.1			1	
UACA	0	LGGM	GRCh37	15	70960409	70960409	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	23	13	.	.	ENST00000322954.6:c.2614C>T	p.Leu872=	p.L872=	ENST00000322954	NM_018003.2	872	Ctg/Ttg	0	1	1	UPI000006DCF3	0		ENST00000322954		ENSG00000137831	15947		36			HGNC	p.L857L		UACA		SNV							ENST00000560441	protein_coding			hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1		L		A		2800/6939							YES	UACA,synonymous_variant,p.=,ENST00000322954,NM_018003.2;UACA,synonymous_variant,p.=,ENST00000379983,NM_001008224.1;UACA,synonymous_variant,p.=,ENST00000560441,;UACA,synonymous_variant,p.=,ENST00000539319,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000559290,;UACA,downstream_gene_variant,,ENST00000560523,;UACA,downstream_gene_variant,,ENST00000558308,;							LOW	2614/4251		UACA_HUMAN			Transcript			.	ENSP00000314556		CCDS10235.1			1	
COG7	0	LGGM	GRCh37	16	23436156	23436156	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	12	13	.	.	ENST00000307149.5:c.923A>T	p.Glu308Val	p.E308V	ENST00000307149	NM_153603.3	308	gAg/gTg	0	1	1	UPI0000127E42	0	NA	ENST00000307149		ENSG00000168434	18622		25	0.805		HGNC	p.E308V		COG7		SNV			1				ENST00000307149	protein_coding	getma.org/?cm=var&var=hg19,16,23436156,T,A&fts=all		Pfam_domain:PF10191,hmmpanther:PTHR21443		E/V		A	low	1109/2926		getma.org/?cm=msa&ty=f&p=COG7_HUMAN&rb=2&re=767&var=E308V	deleterious(0.01)				YES	COG7,missense_variant,p.Glu308Val,ENST00000307149,NM_153603.3;							MODERATE	923/2313	E308V	COG7_HUMAN			Transcript		benign(0.07)	.	ENSP00000305442		CCDS10610.1			1	
ROR1	0	LGGM	GRCh37	1	64643852	64643852	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	42	13	.	.	ENST00000371079.1:c.2128C>T	p.Leu710Phe	p.L710F	ENST00000371079	NM_005012.3	710	Ctc/Ttc	0	1	1	UPI00001AF82C	0	getma.org/pdb.php?prot=ROR1_HUMAN&from=473&to=746&var=L710F	ENST00000371079		ENSG00000185483	10256		55	2.29		HGNC	p.L161F		ROR1		SNV							ENST00000545203	protein_coding	getma.org/?cm=var&var=hg19,1,64643852,C,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000624,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Superfamily_domains:SSF56112		L/F		T	medium	2503/5832		getma.org/?cm=msa&ty=f&p=ROR1_HUMAN&rb=473&re=746&var=L710F	deleterious(0)				YES	ROR1,missense_variant,p.Leu710Phe,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Leu161Phe,ENST00000545203,;							MODERATE	2128/2814	L710F	ROR1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000360120		CCDS626.1			1	
TSPYL6	0	LGGM	GRCh37	2	54482879	54482879	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	75	14	.	.	ENST00000317802.7:c.410C>G	p.Ser137Trp	p.S137W	ENST00000317802	NM_001003937.2	137	tCg/tGg	0	1	1	UPI000006CF77	0	NA	ENST00000317802		ENSG00000178021	14521		89	0.145		HGNC	p.S137W		TSPYL6		SNV							ENST00000317802	protein_coding	getma.org/?cm=var&var=hg19,2,54482879,G,C&fts=all		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF29		S/W		C	neutral	531/3095		getma.org/?cm=msa&ty=f&p=TSYL6_HUMAN&rb=1&re=200&var=S137W	tolerated(0.2)				YES	TSPYL6,missense_variant,p.Ser137Trp,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,;							MODERATE	410/1233	S137W	TSYL6_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000417919		CCDS42682.1			1	
IL10RA	0	LGGM	GRCh37	11	117866380	117866380	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	22	14	.	.	ENST00000227752.3:c.765C>A	p.Ala255=	p.A255=	ENST00000227752	NM_001558.3	255	gcC/gcA	0	1	1	UPI000013C8BF	0		ENST00000227752		ENSG00000110324	5964		36			HGNC	p.A255A		IL10RA		SNV			1				ENST00000227752	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43		A		A		885/3695				F5H5Y4_HUMAN			YES	IL10RA,synonymous_variant,p.=,ENST00000227752,NM_001558.3;IL10RA,synonymous_variant,p.=,ENST00000541785,;IL10RA,synonymous_variant,p.=,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,downstream_gene_variant,,ENST00000534335,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,3_prime_UTR_variant,,ENST00000526544,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000525467,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530178,;IL10RA,downstream_gene_variant,,ENST00000532009,;							LOW	765/1737		I10R1_HUMAN			Transcript			.	ENSP00000227752		CCDS8388.1			1	
HS3ST1	0	LGGM	GRCh37	4	11401164	11401164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	15	14	.	.	ENST00000002596.5:c.466G>T	p.Asp156Tyr	p.D156Y	ENST00000002596	NM_005114.2	156	Gac/Tac	0	1	1	UPI0000072A23	0	getma.org/pdb.php?prot=HS3S1_HUMAN&from=54&to=298&var=D156Y	ENST00000002596		ENSG00000002587	5194		29	3.43		HGNC	p.D156Y		HS3ST1		SNV							ENST00000002596	protein_coding	getma.org/?cm=var&var=hg19,4,11401164,C,A&fts=all		hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		D/Y		A	medium	1641/8031		getma.org/?cm=msa&ty=f&p=HS3S1_HUMAN&rb=54&re=298&var=D156Y	deleterious(0)	Q05CH3_HUMAN,E9PDE3_HUMAN			YES	HS3ST1,missense_variant,p.Asp156Tyr,ENST00000002596,NM_005114.2;HS3ST1,downstream_gene_variant,,ENST00000510712,;HS3ST1,downstream_gene_variant,,ENST00000514690,;							MODERATE	466/924	D156Y	HS3S1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000002596		CCDS3408.1			1	
KRT6B	0	LGGM	GRCh37	12	52845688	52845688	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	17	14	.	.	ENST00000252252.3:c.175C>A	p.Arg59Ser	p.R59S	ENST00000252252	NM_005555.3	59	Cgc/Agc	0	1	1	UPI000013CD50	0	NA	ENST00000252252		ENSG00000185479	6444		31	2.1		HGNC	p.R59S	rs370887221	KRT6B	6.06E-05	SNV	T:0		1				ENST00000252252	protein_coding	getma.org/?cm=var&var=hg19,12,52845688,G,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Low_complexity_(Seg):seg		R/S	T:0.0001	T	medium	223/2282		getma.org/?cm=msa&ty=f&p=K2C6B_HUMAN&rb=1&re=161&var=R59S	deleterious(0.03)				YES	KRT6B,missense_variant,p.Arg59Ser,ENST00000252252,NM_005555.3;							MODERATE	175/1695	R59S	K2C6B_HUMAN			Transcript		unknown(0)	.	ENSP00000252252	8.24E-06	CCDS8828.1			1	
SUN2	0	LGGM	GRCh37	22	39134704	39134704	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	23	14	.	.	ENST00000405018.1:c.1898T>C	p.Val633Ala	p.V633A	ENST00000405018	NM_001199579.1	633	gTg/gCg	0	1		UPI0000137937	0	getma.org/pdb.php?prot=SUN2_HUMAN&from=581&to=715&var=V612A	ENST00000405510		ENSG00000100242	14210		37	2.03		HGNC	p.V612A		SUN2		SNV							ENST00000216064	protein_coding	getma.org/?cm=var&var=hg19,22,39134704,A,G&fts=all		Pfam_domain:PF07738,hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911,PROSITE_profiles:PS51469		V/A		G	medium	2194/4055		getma.org/?cm=msa&ty=f&p=SUN2_HUMAN&rb=581&re=715&var=V612A	deleterious(0)	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN,B0QY64_HUMAN				SUN2,missense_variant,p.Val612Ala,ENST00000405510,NM_001199580.1;SUN2,missense_variant,p.Val633Ala,ENST00000405018,NM_001199579.1;SUN2,missense_variant,p.Val612Ala,ENST00000216064,NM_015374.2;SUN2,missense_variant,p.Val612Ala,ENST00000406622,;SUN2,missense_variant,p.Val601Ala,ENST00000411587,;SUN2,missense_variant,p.Val85Ala,ENST00000455125,;GTPBP1,downstream_gene_variant,,ENST00000458073,;GTPBP1,downstream_gene_variant,,ENST00000489527,;RP3-508I15.19,non_coding_transcript_exon_variant,,ENST00000418803,;RP3-508I15.18,non_coding_transcript_exon_variant,,ENST00000420118,;RP3-508I15.14,upstream_gene_variant,,ENST00000416406,;RP3-508I15.21,upstream_gene_variant,,ENST00000609212,;RP3-508I15.22,upstream_gene_variant,,ENST00000607991,;RP3-508I15.20,upstream_gene_variant,,ENST00000609428,;SUN2,non_coding_transcript_exon_variant,,ENST00000470642,;SUN2,downstream_gene_variant,,ENST00000469086,;SUN2,downstream_gene_variant,,ENST00000477262,;GTPBP1,downstream_gene_variant,,ENST00000484971,;SUN2,downstream_gene_variant,,ENST00000464202,;GTPBP1,downstream_gene_variant,,ENST00000487538,;							MODERATE	1835/2154	V612A	SUN2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000385740		CCDS13978.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H061195	H061195N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	13	39	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		52			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
PHLPP2	0	LGGM	GRCh37	16	71713311	71713311	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	25	15	.	.	ENST00000568954.1:c.1018C>T	p.Gln340Ter	p.Q340*	ENST00000568954		340	Caa/Taa	0	1	1	UPI0000229F5A	0	NA	ENST00000568954		ENSG00000040199	29149		40	0		HGNC	p.Q78X		PHLPP2		SNV							ENST00000568004	protein_coding	getma.org/?cm=var&var=hg19,16,71713311,G,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF00560,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF16,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058		Q/*		A	NA	1397/8317		NA					YES	PHLPP2,stop_gained,p.Gln340Ter,ENST00000393524,;PHLPP2,stop_gained,p.Gln340Ter,ENST00000568954,;PHLPP2,stop_gained,p.Gln340Ter,ENST00000356272,NM_015020.2;PHLPP2,stop_gained,p.Gln375Ter,ENST00000567016,;PHLPP2,stop_gained,p.Gln340Ter,ENST00000360429,;PHLPP2,stop_gained,p.Gln78Ter,ENST00000568004,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000538126,;PHLPP2,non_coding_transcript_exon_variant,,ENST00000574977,;							HIGH	1018/3972	Q340*	PHLP2_HUMAN			Transcript			.	ENSP00000457991		CCDS32479.1			1	
NRXN1	0	LGGM	GRCh37	2	50693617	50693617	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	31	15	.	.	ENST00000404971.1:c.3365-918A>T		*1122*	ENST00000404971	NM_001135659.1			0	1		UPI0000130A9D	0		ENST00000406316		ENSG00000179915	8008		46			HGNC	p.M94L		NRXN1		SNV			1				ENST00000401710	protein_coding							A		-/7505				Q08AH0_HUMAN				NRXN1,missense_variant,p.Met94Leu,ENST00000401710,;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,,ENST00000331040,;							MODIFIER	-/4434		NRX1A_HUMAN			Transcript			.	ENSP00000384311		CCDS54360.1			1	
ABCC3	0	LGGM	GRCh37	17	48736728	48736728	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	14	15	.	.	ENST00000285238.8:c.805C>T	p.Arg269Ter	p.R269*	ENST00000285238	NM_003786.3	269	Cga/Tga	0	1	1	UPI000004B145	0	NA	ENST00000285238		ENSG00000108846	54		29	0		HGNC	p.R269X		ABCC3		SNV							ENST00000505699	protein_coding	getma.org/?cm=var&var=hg19,17,48736728,C,T&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957		R/*		T	NA	885/5716		NA		Q96QA9_HUMAN,Q2M3C9_HUMAN			YES	ABCC3,stop_gained,p.Arg269Ter,ENST00000285238,NM_003786.3;ABCC3,stop_gained,p.Arg269Ter,ENST00000427699,NM_001144070.1;ABCC3,upstream_gene_variant,,ENST00000513589,;ABCC3,stop_gained,p.Arg269Ter,ENST00000505699,;ABCC3,missense_variant,p.Thr287Met,ENST00000502426,;ABCC3,splice_region_variant,,ENST00000515585,;ABCC3,3_prime_UTR_variant,,ENST00000513511,;ABCC3,upstream_gene_variant,,ENST00000571855,;ABCC3,upstream_gene_variant,,ENST00000515070,;							HIGH	805/4584	R269*	MRP3_HUMAN			Transcript			.	ENSP00000285238		CCDS32681.1			1	
UBQLN1	0	LGGM	GRCh37	9	86292842	86292842	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	22	15	.	.	ENST00000376395.4:c.905A>G	p.Asn302Ser	p.N302S	ENST00000376395	NM_053067.2	302	aAt/aGt	0	1	1	UPI0000038DA1	0	NA	ENST00000376395		ENSG00000135018	12508	0.000866	37	1.06		HGNC	p.N302S	rs544334704	UBQLN1		SNV							ENST00000376395	protein_coding	getma.org/?cm=var&var=hg19,9,86292842,T,C&fts=all		hmmpanther:PTHR10677:SF16,hmmpanther:PTHR10677		N/S		C	low	1429/4118		getma.org/?cm=msa&ty=f&p=UBQL1_HUMAN&rb=110&re=309&var=N302S	tolerated(0.21)				YES	UBQLN1,missense_variant,p.Asn302Ser,ENST00000376395,NM_053067.2,NM_013438.4;UBQLN1,missense_variant,p.Asn302Ser,ENST00000257468,;UBQLN1,missense_variant,p.Asn99Ser,ENST00000529923,;UBQLN1,non_coding_transcript_exon_variant,,ENST00000533705,;	0.000116						MODERATE	905/1770	N302S	UBQL1_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000365576	9.06E-05	CCDS6663.1			1	
UNC80	0	LGGM	GRCh37	2	210800482	210800482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	25	16	.	.	ENST00000439458.1:c.6025C>A	p.Pro2009Thr	p.P2009T	ENST00000439458	NM_032504.1	2009	Cca/Aca	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		41	1.935		HGNC	p.P2009T		UNC80		SNV							ENST00000439458	protein_coding	getma.org/?cm=var&var=hg19,2,210800482,C,A&fts=all		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		P/T		A	medium	6105/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=1171&re=2869&var=P2009T					YES	UNC80,missense_variant,p.Pro2009Thr,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Pro2004Thr,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;							MODERATE	6025/9777	P2009T	UNC80_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000391088		CCDS46504.1			1	
SUN2	0	LGGM	GRCh37	22	39134695	39134695	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	24	17	.	.	ENST00000405018.1:c.1907T>C	p.Leu636Pro	p.L636P	ENST00000405018	NM_001199579.1	636	cTc/cCc	0	1		UPI0000137937	0	getma.org/pdb.php?prot=SUN2_HUMAN&from=581&to=715&var=L615P	ENST00000405510		ENSG00000100242	14210		41	4.13		HGNC	p.L615P		SUN2		SNV							ENST00000216064	protein_coding	getma.org/?cm=var&var=hg19,22,39134695,A,G&fts=all		Pfam_domain:PF07738,hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911,PROSITE_profiles:PS51469		L/P		G	high	2203/4055		getma.org/?cm=msa&ty=f&p=SUN2_HUMAN&rb=581&re=715&var=L615P	deleterious(0)	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN,B0QY64_HUMAN				SUN2,missense_variant,p.Leu615Pro,ENST00000405510,NM_001199580.1;SUN2,missense_variant,p.Leu636Pro,ENST00000405018,NM_001199579.1;SUN2,missense_variant,p.Leu615Pro,ENST00000216064,NM_015374.2;SUN2,missense_variant,p.Leu615Pro,ENST00000406622,;SUN2,missense_variant,p.Leu604Pro,ENST00000411587,;SUN2,missense_variant,p.Leu88Pro,ENST00000455125,;GTPBP1,downstream_gene_variant,,ENST00000458073,;GTPBP1,downstream_gene_variant,,ENST00000489527,;RP3-508I15.19,non_coding_transcript_exon_variant,,ENST00000418803,;RP3-508I15.18,non_coding_transcript_exon_variant,,ENST00000420118,;RP3-508I15.14,upstream_gene_variant,,ENST00000416406,;RP3-508I15.21,upstream_gene_variant,,ENST00000609212,;RP3-508I15.22,upstream_gene_variant,,ENST00000607991,;RP3-508I15.20,upstream_gene_variant,,ENST00000609428,;SUN2,non_coding_transcript_exon_variant,,ENST00000470642,;SUN2,downstream_gene_variant,,ENST00000469086,;SUN2,downstream_gene_variant,,ENST00000477262,;GTPBP1,downstream_gene_variant,,ENST00000484971,;SUN2,downstream_gene_variant,,ENST00000464202,;GTPBP1,downstream_gene_variant,,ENST00000487538,;							MODERATE	1844/2154	L615P	SUN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385740		CCDS13978.1			1	
FGD5	0	LGGM	GRCh37	3	14860641	14860641	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	19	18	.	.	ENST00000285046.5:c.63G>A	p.Trp21Ter	p.W21*	ENST00000285046	NM_152536.3	21	tgG/tgA	0	1	1	UPI00002372AE	0	NA	ENST00000285046		ENSG00000154783	19117		37	0		HGNC	p.W21X		FGD5		SNV							ENST00000285046	protein_coding	getma.org/?cm=var&var=hg19,3,14860641,G,A&fts=all				W/*		A	NA	173/5720		NA		A3KMQ0_HUMAN			YES	FGD5,stop_gained,p.Trp21Ter,ENST00000285046,NM_152536.3;FGD5,upstream_gene_variant,,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;							HIGH	63/4389	W21*	FGD5_HUMAN			Transcript			.	ENSP00000285046		CCDS46767.1			1	
ZNF827	0	LGGM	GRCh37	4	146791494	146791494	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	34	18	.	.	ENST00000379448.4:c.1884C>A	p.Val628=	p.V628=	ENST00000379448	NM_178835.3	628	gtC/gtA	0	1		UPI0000DA58F8	0		ENST00000508784		ENSG00000151612	27193		52			HGNC	p.V628V		ZNF827		SNV							ENST00000379448	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4		V		T		2112/7463								ZNF827,synonymous_variant,p.=,ENST00000508784,;ZNF827,synonymous_variant,p.=,ENST00000379448,NM_178835.3;ZNF827,synonymous_variant,p.=,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000511534,;ZNF827,non_coding_transcript_exon_variant,,ENST00000508995,;							LOW	1884/3246		ZN827_HUMAN			Transcript			.	ENSP00000421863					1	
IPO9	0	LGGM	GRCh37	1	201835881	201835881	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	101	18	.	.	ENST00000361565.4:c.1649T>G	p.Val550Gly	p.V550G	ENST00000361565	NM_018085.4	550	gTc/gGc	0	1	1	UPI000007304B	0	NA	ENST00000361565		ENSG00000198700	19425		119	-0.345		HGNC	p.V550G		IPO9		SNV							ENST00000361565	protein_coding	getma.org/?cm=var&var=hg19,1,201835881,T,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Superfamily_domains:SSF48371		V/G		G	neutral	1718/11435		getma.org/?cm=msa&ty=f&p=IPO9_HUMAN&rb=520&re=719&var=V550G	tolerated(0.38)				YES	IPO9,missense_variant,p.Val550Gly,ENST00000361565,NM_018085.4;							MODERATE	1649/3126	V550G	IPO9_HUMAN			Transcript		benign(0.001)	.	ENSP00000354742		CCDS1415.1			1	
TM4SF4	0	LGGM	GRCh37	3	149192807	149192807	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	19	18	.	.	ENST00000305354.4:c.143T>G	p.Phe48Cys	p.F48C	ENST00000305354	NM_004617.3	48	tTt/tGt	0	1	1	UPI000013683D	0	NA	ENST00000305354		ENSG00000169903	11856		37	1.32		HGNC	p.F48C		TM4SF4		SNV							ENST00000465758	protein_coding	getma.org/?cm=var&var=hg19,3,149192807,T,G&fts=all		Pfam_domain:PF05805,hmmpanther:PTHR14198,hmmpanther:PTHR14198:SF15,Transmembrane_helices:TMhelix		F/C		G	low	1047/2101		getma.org/?cm=msa&ty=f&p=T4S4_HUMAN&rb=1&re=192&var=F48C	tolerated(0.21)				YES	TM4SF4,missense_variant,p.Phe48Cys,ENST00000305354,NM_004617.3;TM4SF4,missense_variant,p.Phe48Cys,ENST00000465758,;TM4SF4,upstream_gene_variant,,ENST00000463068,;							MODERATE	143/609	F48C	T4S4_HUMAN			Transcript		benign(0.062)	.	ENSP00000305852		CCDS46932.1			1	
A2ML1	0	LGGM	GRCh37	12	9021166	9021166	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	15	20	.	.	ENST00000299698.7:c.4095T>C	p.Ala1365=	p.A1365=	ENST00000299698	NM_144670.4	1365	gcT/gcC	0	1	1	UPI000022904E	0		ENST00000299698		ENSG00000166535	23336		35			HGNC	p.A915A		A2ML1		SNV			1				ENST00000541459	protein_coding			Gene3D:1ayoA00,Pfam_domain:PF07677,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF79,Superfamily_domains:SSF49410		A		C		4275/5274				H0YGG5_HUMAN			YES	A2ML1,synonymous_variant,p.=,ENST00000299698,NM_144670.4,NM_001282424.1;A2ML1,synonymous_variant,p.=,ENST00000539547,;A2ML1,synonymous_variant,p.=,ENST00000541459,;A2ML1,synonymous_variant,p.=,ENST00000537475,;							LOW	4095/4365		A2ML1_HUMAN			Transcript			.	ENSP00000299698		CCDS8596.2			1	
KIF3C	0	LGGM	GRCh37	2	26204490	26204490	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	38	20	.	.	ENST00000264712.3:c.297G>T	p.Thr99=	p.T99=	ENST00000264712	NM_002254.6	99	acG/acT	0	1	1	UPI000013D55A	0		ENST00000264712		ENSG00000084731	6321		58			HGNC	p.T99T		KIF3C		SNV							ENST00000417737	protein_coding			PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF349,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380		T		A		877/5338							YES	KIF3C,synonymous_variant,p.=,ENST00000264712,NM_002254.6;KIF3C,synonymous_variant,p.=,ENST00000405914,;KIF3C,synonymous_variant,p.=,ENST00000455394,;KIF3C,synonymous_variant,p.=,ENST00000417737,;KIF3C,upstream_gene_variant,,ENST00000475453,;							LOW	297/2382		KIF3C_HUMAN			Transcript			.	ENSP00000264712		CCDS1719.1			1	
GBA2	0	LGGM	GRCh37	9	35741739	35741739	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	27	21	.	.	ENST00000378103.3:c.716A>G	p.Tyr239Cys	p.Y239C	ENST00000378103	NM_020944.2	239	tAt/tGt	0	1	1	UPI0000073FD5	0	NA	ENST00000378103		ENSG00000070610	18986		48	3.49		HGNC	p.Y239C	rs760594027	GBA2		SNV			1				ENST00000378094	protein_coding	getma.org/?cm=var&var=hg19,9,35741739,T,C&fts=all		PIRSF_domain:PIRSF028944,Pfam_domain:PF12215,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654		Y/C		C	medium	1240/3611		getma.org/?cm=msa&ty=f&p=GBA2_HUMAN&rb=151&re=455&var=Y239C	deleterious(0)				YES	GBA2,missense_variant,p.Tyr239Cys,ENST00000378094,;GBA2,missense_variant,p.Tyr239Cys,ENST00000378103,NM_020944.2;GBA2,missense_variant,p.Tyr245Cys,ENST00000545786,;CREB3,downstream_gene_variant,,ENST00000353704,NM_006368.4;GBA2,upstream_gene_variant,,ENST00000378088,;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,;GBA2,non_coding_transcript_exon_variant,,ENST00000485259,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000489025,;GBA2,upstream_gene_variant,,ENST00000486797,;GBA2,upstream_gene_variant,,ENST00000488292,;							MODERATE	716/2784	Y239C	GBA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367343		CCDS6589.1			1	
LAMA1	0	LGGM	GRCh37	18	6959429	6959429	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	34	21	.	.	ENST00000389658.3:c.7689G>T	p.Gly2563=	p.G2563=	ENST00000389658	NM_005559.3	2563	ggG/ggT	0	1	1	UPI00001C1FF9	0		ENST00000389658		ENSG00000101680	6481		55			HGNC	p.G2563G		LAMA1		SNV			1				ENST00000389658	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		G		A		7783/9657				Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,upstream_gene_variant,,ENST00000492048,;LAMA1,downstream_gene_variant,,ENST00000490190,;							LOW	7689/9228		LAMA1_HUMAN			Transcript			.	ENSP00000374309		CCDS32787.1			1	
NRCAM	0	LGGM	GRCh37	7	107875091	107875091	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	75	21	.	.	ENST00000379028.3:c.166T>C	p.Tyr56His	p.Y56H	ENST00000379028		56	Tac/Cac	0	1	1	UPI00005E2661	0	getma.org/pdb.php?prot=NRCAM_HUMAN&from=45&to=140&var=Y56H	ENST00000379028		ENSG00000091129	7994		96	0.88		HGNC	p.Y50H		NRCAM		SNV							ENST00000456431	protein_coding	getma.org/?cm=var&var=hg19,7,107875091,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726		Y/H		G	low	637/6659		getma.org/?cm=msa&ty=f&p=NRCAM_HUMAN&rb=45&re=140&var=Y56H	tolerated(0.3)	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN			YES	NRCAM,missense_variant,p.Tyr56His,ENST00000379028,;NRCAM,missense_variant,p.Tyr56His,ENST00000413765,;NRCAM,missense_variant,p.Tyr50His,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Tyr56His,ENST00000379024,NM_001193582.1,NM_001193584.1,NM_001193583.1;NRCAM,missense_variant,p.Tyr56His,ENST00000379022,;NRCAM,missense_variant,p.Tyr56His,ENST00000425651,NM_001037132.2;NRCAM,missense_variant,p.Tyr50His,ENST00000417701,;NRCAM,missense_variant,p.Tyr50His,ENST00000456431,;NRCAM,missense_variant,p.Tyr56His,ENST00000442580,;NRCAM,missense_variant,p.Tyr50His,ENST00000419936,;NRCAM,missense_variant,p.Tyr56His,ENST00000418239,;							MODERATE	166/3915	Y56H	NRCAM_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000368314		CCDS47686.1			1	
USP9X	0	LGGM	GRCh37	X	41082519	41082519	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	5	22	.	.	ENST00000324545.8:c.6615T>C	p.Phe2205=	p.F2205=	ENST00000324545	NM_001039590.2	2205	ttT/ttC	0	1	1	UPI00001AF419	0		ENST00000324545		ENSG00000124486	12632		27			HGNC	p.F2205F		USP9X		SNV			1				ENST00000324545	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359		F		C		7248/12401							YES	USP9X,synonymous_variant,p.=,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,synonymous_variant,p.=,ENST00000378308,;							LOW	6615/7713		USP9X_HUMAN			Transcript			.	ENSP00000316357		CCDS43930.1			1	
DZIP3	0	LGGM	GRCh37	3	108407473	108407473	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	44	22	.	.	ENST00000361582.3:c.3304G>T	p.Val1102Phe	p.V1102F	ENST00000361582	NM_014648.3	1102	Gtt/Ttt	0	1	1	UPI000006E7D4	0	NA	ENST00000361582		ENSG00000198919	30938		66	0.345		HGNC	p.V1102F		DZIP3		SNV							ENST00000463306	protein_coding	getma.org/?cm=var&var=hg19,3,108407473,G,T&fts=all		hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15		V/F		T	neutral	3534/5350		getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=1092&re=1145&var=V1102F	deleterious(0.02)	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,missense_variant,p.Val1102Phe,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Val1102Phe,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							MODERATE	3304/3627	V1102F	DZIP3_HUMAN			Transcript		benign(0.057)	.	ENSP00000355028		CCDS2952.1			1	
EMR2	0	LGGM	GRCh37	19	14854515	14854515	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	50	22	.	.	ENST00000315576.3:c.2265T>A	p.Ala755=	p.A755=	ENST00000315576	NM_013447.3	755	gcT/gcA	0	1	1	UPI000016393A	0		ENST00000315576		ENSG00000127507	3337		72			HGNC	p.A706A		EMR2		SNV							ENST00000594294	protein_coding			Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF179,Transmembrane_helices:TMhelix		A		T		2717/6767							YES	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.=,ENST00000392965,NM_001271052.1;EMR2,synonymous_variant,p.=,ENST00000594294,;EMR2,synonymous_variant,p.=,ENST00000594076,;EMR2,synonymous_variant,p.=,ENST00000595839,;EMR2,downstream_gene_variant,,ENST00000392964,;EMR2,non_coding_transcript_exon_variant,,ENST00000360222,;EMR2,downstream_gene_variant,,ENST00000595208,;							LOW	2265/2472		EMR2_HUMAN			Transcript			.	ENSP00000319883		CCDS32935.1			1	
CHTF18	0	LGGM	GRCh37	16	846801	846801	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	32	22	.	.	ENST00000262315.9:c.2541G>C	p.Glu847Asp	p.E847D	ENST00000262315	NM_022092.2	847	gaG/gaC	0	1	1	UPI00000710D2	0	NA	ENST00000262315		ENSG00000127586	18435		54	3.095		HGNC	p.E847D		CHTF18		SNV							ENST00000262315	protein_coding	getma.org/?cm=var&var=hg19,16,846801,G,C&fts=all		hmmpanther:PTHR23389,hmmpanther:PTHR23389:SF3		E/D		C	medium	2604/3090		getma.org/?cm=msa&ty=f&p=CTF18_HUMAN&rb=665&re=864&var=E847D	deleterious(0)				YES	CHTF18,missense_variant,p.Glu1056Asp,ENST00000317063,;CHTF18,missense_variant,p.Glu875Asp,ENST00000455171,;CHTF18,missense_variant,p.Glu847Asp,ENST00000262315,NM_022092.2;GNG13,downstream_gene_variant,,ENST00000248150,NM_016541.2;CHTF18,downstream_gene_variant,,ENST00000461268,;CHTF18,downstream_gene_variant,,ENST00000493715,;CHTF18,upstream_gene_variant,,ENST00000564940,;CHTF18,non_coding_transcript_exon_variant,,ENST00000471202,;CHTF18,non_coding_transcript_exon_variant,,ENST00000464728,;CHTF18,non_coding_transcript_exon_variant,,ENST00000498439,;CHTF18,downstream_gene_variant,,ENST00000440239,;CHTF18,downstream_gene_variant,,ENST00000569270,;CHTF18,downstream_gene_variant,,ENST00000567620,;CHTF18,downstream_gene_variant,,ENST00000565787,;							MODERATE	2541/2928	E847D	CTF18_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000262315		CCDS45371.1			1	
GRAMD1C	0	LGGM	GRCh37	3	113601600	113601600	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	31	24	.	.	ENST00000358160.4:c.461T>G	p.Phe154Cys	p.F154C	ENST00000358160	NM_017577.4	154	tTt/tGt	0	1	1	UPI00001AF15F	0	NA	ENST00000358160		ENSG00000178075	25252		55	2.135		HGNC	p.F122C		GRAMD1C		SNV							ENST00000472384	protein_coding	getma.org/?cm=var&var=hg19,3,113601600,T,G&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF1		F/C		G	medium	953/4177		getma.org/?cm=msa&ty=f&p=GRM1C_HUMAN&rb=137&re=336&var=F154C	tolerated(0.18)	C9J7B8_HUMAN,A8KA99_HUMAN			YES	GRAMD1C,missense_variant,p.Phe154Cys,ENST00000358160,NM_017577.4;GRAMD1C,splice_region_variant,,ENST00000452134,;GRAMD1C,splice_region_variant,,ENST00000479212,;GRAMD1C,intron_variant,,ENST00000486457,;GRAMD1C,intron_variant,,ENST00000463760,;GRAMD1C,missense_variant,p.Phe122Cys,ENST00000472384,;GRAMD1C,intron_variant,,ENST00000484714,;RP11-435F17.3,upstream_gene_variant,,ENST00000478867,;							MODERATE	461/1989	F154C	GRM1C_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000350881		CCDS33826.1			1	
GHR	0	LGGM	GRCh37	5	42719415	42719415	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	32	24	.	.	ENST00000230882.4:c.1806del	p.Gln602HisfsTer27	p.Q602Hfs*27	ENST00000230882	NM_001242406.2	602	caG/ca	0	1	1	UPI000012B416	0		ENST00000230882		ENSG00000112964	4263		56			HGNC	p.Q602fs		GHR		deletion			1				ENST00000230882	protein_coding			Pfam_domain:PF12772,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF74		Q/X		-		1996/4560				Q9NRZ8_HUMAN,Q9HCW9_HUMAN,F5H7X2_HUMAN			YES	GHR,frameshift_variant,p.Gln602HisfsTer27,ENST00000230882,NM_001242406.2,NM_000163.4,NM_001242399.2,NM_001242401.3,NM_001242405.2,NM_001242404.2,NM_001242400.2,NM_001242403.2,NM_001242402.2;GHR,frameshift_variant,p.Gln580HisfsTer27,ENST00000357703,NM_001242460.1;GHR,frameshift_variant,p.Gln415HisfsTer27,ENST00000537449,;GHR,downstream_gene_variant,,ENST00000513625,;GHR,3_prime_UTR_variant,,ENST00000511135,;							HIGH	1806/1917		GHR_HUMAN			Transcript			.	ENSP00000230882		CCDS3940.1			1	
TTN	0	LGGM	GRCh37	2	179644748	179644748	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	54	24	.	.	ENST00000589042.1:c.3708C>T	p.Val1236=	p.V1236=	ENST00000589042	NM_001267550.1	1236	gtC/gtT	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		78			HGNC	p.V1190V	rs774509972	TTN		SNV			1				ENST00000359218	protein_coding			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		V		A		3933/104301				C9JQJ2_HUMAN				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,synonymous_variant,p.=,ENST00000360870,NM_133379.4;RP11-88L24.4,downstream_gene_variant,,ENST00000582038,;	0.000349						LOW	3708/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570	2.47E-05				1	
BLTP1	0	LGGM	GRCh37	4	123265535	123265535	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	31	25	.	.	ENST00000264501.4:c.12554-2A>C		p.X4185_splice	ENST00000264501				0	1	1	UPI0000DD87B4	0		ENST00000264501		ENSG00000138688	26953		56			HGNC	-		KIAA1109		SNV							ENST00000264501	protein_coding							C		-/15896				B3KN93_HUMAN			YES	KIAA1109,splice_acceptor_variant,,ENST00000264501,;KIAA1109,splice_acceptor_variant,,ENST00000388738,NM_015312.3;KIAA1109,splice_acceptor_variant,,ENST00000438707,;KIAA1109,splice_acceptor_variant,,ENST00000306802,;KIAA1109,splice_acceptor_variant,,ENST00000442707,;KIAA1109,upstream_gene_variant,,ENST00000491933,;							HIGH	12554/15018		K1109_HUMAN			Transcript			.	ENSP00000264501		CCDS43267.1			1	
TBR1	0	LGGM	GRCh37	2	162273091	162273091	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	43	25	.	.	ENST00000389554.3:c.170G>A	p.Arg57Lys	p.R57K	ENST00000389554	NM_006593.2	57	aGg/aAg	0	1	1	UPI0000136A99	0	NA	ENST00000389554		ENSG00000136535	11590		68	1.1		HGNC	p.R57K		TBR1		SNV			1				ENST00000389554	protein_coding	getma.org/?cm=var&var=hg19,2,162273091,G,A&fts=all		hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267		R/K		A	low	487/4009		getma.org/?cm=msa&ty=f&p=TBR1_HUMAN&rb=1&re=179&var=R57K	tolerated_low_confidence(0.16)	Q56A81_HUMAN,B0AZS4_HUMAN			YES	TBR1,missense_variant,p.Arg57Lys,ENST00000389554,NM_006593.2;PSMD14,downstream_gene_variant,,ENST00000409682,NM_005805.5;TBR1,upstream_gene_variant,,ENST00000410035,;TBR1,upstream_gene_variant,,ENST00000411412,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;PSMD14,downstream_gene_variant,,ENST00000477232,;PSMD14,downstream_gene_variant,,ENST00000492908,;							MODERATE	170/2049	R57K	TBR1_HUMAN			Transcript		possibly_damaging(0.745)	.	ENSP00000374205		CCDS33310.1			1	
EEF1E1	0	LGGM	GRCh37	6	8097684	8097684	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	25	25	.	.	ENST00000379715.5:c.104C>G	p.Thr35Arg	p.T35R	ENST00000379715	NM_004280.4	35	aCa/aGa	0	1	1	UPI000012ED5C	0	getma.org/pdb.php?prot=MCA3_HUMAN&from=1&to=66&var=T35R	ENST00000379715		ENSG00000124802	3212		50	1.7		HGNC	p.T35R		EEF1E1		SNV							ENST00000429723	protein_coding	getma.org/?cm=var&var=hg19,6,8097684,G,C&fts=all		hmmpanther:PTHR11260:SF143,hmmpanther:PTHR11260,Gene3D:3.40.30.10		T/R		C	low	161/1077		getma.org/?cm=msa&ty=f&p=MCA3_HUMAN&rb=1&re=66&var=T35R	tolerated(0.11)				YES	EEF1E1,missense_variant,p.Thr35Arg,ENST00000379715,NM_004280.4;EEF1E1,missense_variant,p.Thr35Arg,ENST00000507463,;EEF1E1,missense_variant,p.Thr22Arg,ENST00000502429,;EEF1E1,missense_variant,p.Thr35Arg,ENST00000429723,NM_001135650.1;EEF1E1,missense_variant,p.Thr47Arg,ENST00000488226,;EEF1E1,upstream_gene_variant,,ENST00000515633,;EEF1E1-BLOC1S5,missense_variant,p.Thr35Arg,ENST00000397456,;							MODERATE	104/525	T35R	MCA3_HUMAN			Transcript		benign(0.038)	.	ENSP00000369038		CCDS4507.1			1	
EEF1A1	0	LGGM	GRCh37	6	74228905	74228905	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	5	26	.	.	ENST00000316292.9:c.371A>C	p.Glu124Ala	p.E124A	ENST00000316292	NM_001402.5	124	gAa/gCa	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=5&to=238&var=E124A	ENST00000309268		ENSG00000156508	3189		31	2.62		HGNC	p.E124A		EEF1A1		SNV							ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74228905,T,G&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540		E/A		G	medium	990/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=5&re=238&var=E124A	deleterious_low_confidence(0)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,missense_variant,p.Glu124Ala,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Glu124Ala,ENST00000309268,;EEF1A1,missense_variant,p.Glu124Ala,ENST00000331523,;EEF1A1,missense_variant,p.Glu124Ala,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;							MODERATE	371/1389	E124A	EF1A1_HUMAN			Transcript		benign(0.349)	.	ENSP00000339053		CCDS4980.1			1	
OR5P3	0	LGGM	GRCh37	11	7846795	7846795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	40	27	.	.	ENST00000328375.1:c.725C>T	p.Thr242Ile	p.T242I	ENST00000328375	NM_153445.1	242	aCc/aTc	0	1	1	UPI000004B1F2	0	NA	ENST00000328375		ENSG00000182334	14784		67	1.81		HGNC	p.T242I	rs369932144	OR5P3		SNV	A:0						ENST00000328375	protein_coding	getma.org/?cm=var&var=hg19,11,7846795,G,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF90,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		T/I	A:0.0001	A	low	725/936		getma.org/?cm=msa&ty=f&p=OR5P3_HUMAN&rb=139&re=283&var=T242I	deleterious(0.02)				YES	OR5P3,missense_variant,p.Thr242Ile,ENST00000328375,NM_153445.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;	0.000116						MODERATE	725/936	T242I	OR5P3_HUMAN			Transcript		possibly_damaging(0.488)	.	ENSP00000332068	1.65E-05	CCDS7783.1	0.0011		1	
CXXC4	0	LGGM	GRCh37	4	105412396	105412412	+	frameshift_variant	Frame_Shift_Del	DEL	CGGCTCTGGCGGGCAGC	CGGCTCTGGCGGGCAGC	-	novel	by Submitter	H061195	H061195N.bam	CGGCTCTGGCGGGCAGC	CGGCTCTGGCGGGCAGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	82	28	.	.	ENST00000394767.2:c.548_564del	p.Gly183ValfsTer8	p.G183Vfs*8	ENST00000394767	NM_025212.2	183	gGCTGCCCGCCAGAGCCG/g	0	1		UPI000002538A	0		ENST00000426831		ENSG00000168772	24593		110			HGNC	p.14_19del		CXXC4		deletion							ENST00000426831	protein_coding			hmmpanther:PTHR13419		GCPPEP/X		-		56-72/746								CXXC4,frameshift_variant,p.Gly183ValfsTer8,ENST00000394767,NM_025212.2;CXXC4,frameshift_variant,p.Gly14ValfsTer8,ENST00000426831,;AC093628.1,downstream_gene_variant,,ENST00000606234,;AC004053.1,intron_variant,,ENST00000500179,;CXXC4,intron_variant,,ENST00000466963,;							HIGH	41-57/597		CXXC4_HUMAN			Transcript			.	ENSP00000412267					1	
ZBED2	0	LGGM	GRCh37	3	111312486	111312486	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	42	28	.	.	ENST00000317012.4:c.563T>A	p.Ile188Asn	p.I188N	ENST00000317012	NM_024508.4	188	aTc/aAc	0	1	1	UPI0000374509	0	NA	ENST00000317012		ENSG00000177494	20710		70	1.39		HGNC	p.I188N		ZBED2		SNV							ENST00000317012	protein_coding	getma.org/?cm=var&var=hg19,3,111312486,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		I/N		T	low	1572/2311		getma.org/?cm=msa&ty=f&p=ZBED2_HUMAN&rb=108&re=218&var=I188N	deleterious(0)				YES	ZBED2,missense_variant,p.Ile188Asn,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,;							MODERATE	563/657	I188N	ZBED2_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000321370		CCDS2960.2			1	
ZP2	0	LGGM	GRCh37	16	21209101	21209101	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	43	28	.	.	ENST00000574002.1:c.2081A>G	p.Glu694Gly	p.E694G	ENST00000574002		694	gAg/gGg	0	1	1	UPI000013C45C	0	NA	ENST00000574002		ENSG00000103310	13188		71	0		HGNC	p.E694G		ZP2		SNV							ENST00000574002	protein_coding	getma.org/?cm=var&var=hg19,16,21209101,T,C&fts=all				E/G		C	neutral	2564/2749		getma.org/?cm=msa&ty=f&p=ZP2_HUMAN&rb=673&re=743&var=E694G	tolerated_low_confidence(0.15)				YES	ZP2,missense_variant,p.Glu694Gly,ENST00000574002,;ZP2,missense_variant,p.Glu694Gly,ENST00000219593,NM_003460.1;ZP2,missense_variant,p.Glu685Gly,ENST00000574091,;AF001550.7,intron_variant,,ENST00000572747,;ZP2,downstream_gene_variant,,ENST00000573114,;							MODERATE	2081/2238	E694G	ZP2_HUMAN			Transcript		benign(0.059)	.	ENSP00000460971		CCDS10596.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	29	28	.	.	ENST00000349496.5:c.110C>A	p.Ser37Tyr	p.S37Y	ENST00000349496	NM_001904.3	37	tCt/tAt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37Y	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		57	2.485		HGNC	p.S37Y	rs121913403,COSM5666	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266113,C,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/Y		A	medium	390/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37Y	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Tyr,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Tyr,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Tyr,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	110/2346	S37Y	CTNB1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000344456		CCDS2694.1			1	
ZNF32	0	LGGM	GRCh37	10	44140147	44140147	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	47	29	.	.	ENST00000395797.1:c.173A>T	p.Lys58Ile	p.K58I	ENST00000395797	NM_001005368.1	58	aAa/aTa	0	1		UPI000007013D	0	NA	ENST00000374433		ENSG00000169740	13095		76	0		HGNC	p.K58I		ZNF32		SNV							ENST00000395797	protein_coding	getma.org/?cm=var&var=hg19,10,44140147,T,A&fts=all				K/I		A	neutral	297/1137		getma.org/?cm=msa&ty=f&p=ZNF32_HUMAN&rb=1&re=90&var=K58I	tolerated_low_confidence(0.07)					ZNF32,missense_variant,p.Lys58Ile,ENST00000395797,NM_001005368.1;ZNF32,missense_variant,p.Lys58Ile,ENST00000374433,NM_006973.2;ZNF32-AS1,intron_variant,,ENST00000453284,;ZNF32-AS2,upstream_gene_variant,,ENST00000418966,;ZNF32,non_coding_transcript_exon_variant,,ENST00000485351,;ZNF32-AS3,intron_variant,,ENST00000458063,;							MODERATE	173/822	K58I	ZNF32_HUMAN			Transcript		benign(0.022)	.	ENSP00000363556		CCDS7206.1			1	
NFASC	0	LGGM	GRCh37	1	204926799	204926799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	64	29	.	.	ENST00000339876.6:c.551C>T	p.Thr184Ile	p.T184I	ENST00000339876	NM_001005388.2	184	aCc/aTc	0	1	1	UPI0000237208	0	getma.org/pdb.php?prot=NFASC_HUMAN&from=140&to=233&var=T184I	ENST00000339876		ENSG00000163531	29866		93	0.055		HGNC	p.T178I		NFASC		SNV							ENST00000360049	protein_coding	getma.org/?cm=var&var=hg19,1,204926799,C,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50835		T/I		T	neutral	879/10333		getma.org/?cm=msa&ty=f&p=NFASC_HUMAN&rb=140&re=233&var=T184I	deleterious(0.02)	D6RHX4_HUMAN			YES	NFASC,missense_variant,p.Thr184Ile,ENST00000367172,;NFASC,missense_variant,p.Thr184Ile,ENST00000367171,;NFASC,missense_variant,p.Thr184Ile,ENST00000367170,;NFASC,missense_variant,p.Thr184Ile,ENST00000338515,;NFASC,missense_variant,p.Thr184Ile,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Thr184Ile,ENST00000338586,;NFASC,missense_variant,p.Thr184Ile,ENST00000401399,;NFASC,missense_variant,p.Thr178Ile,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Thr178Ile,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Thr184Ile,ENST00000367169,;NFASC,missense_variant,p.Thr178Ile,ENST00000404076,;NFASC,missense_variant,p.Thr178Ile,ENST00000404907,;NFASC,missense_variant,p.Thr154Ile,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Thr154Ile,ENST00000367173,;NFASC,missense_variant,p.Thr178Ile,ENST00000513543,;NFASC,missense_variant,p.Thr184Ile,ENST00000403080,NM_001005389.1,NM_001160333.1;NFASC,missense_variant,p.Thr184Ile,ENST00000446412,;NFASC,downstream_gene_variant,,ENST00000505079,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,non_coding_transcript_exon_variant,,ENST00000504149,;NFASC,missense_variant,p.Thr184Ile,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000514644,;NFASC,upstream_gene_variant,,ENST00000512826,;							MODERATE	551/3723	T184I	NFASC_HUMAN			Transcript		benign(0.205)	.	ENSP00000344786		CCDS53460.1			1	
ZNF397	0	LGGM	GRCh37	18	32826031	32826031	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	36	30	.	.	ENST00000330501.7:c.1362A>C	p.Glu454Asp	p.E454D	ENST00000330501	NM_001135178.2	454	gaA/gaC	0	1	1	UPI000000D7E4	0	getma.org/pdb.php?prot=ZN397_HUMAN&from=439&to=463&var=E454D	ENST00000330501		ENSG00000186812	18818		66	1.29		HGNC	p.E454D		ZNF397		SNV							ENST00000330501	protein_coding	getma.org/?cm=var&var=hg19,18,32826031,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/D		C	low	1515/2637		getma.org/?cm=msa&ty=f&p=ZN397_HUMAN&rb=419&re=483&var=E454D	deleterious(0.01)	M0R288_HUMAN			YES	ZNF397,missense_variant,p.Glu454Asp,ENST00000330501,NM_001135178.2;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000261333,NM_032347.2;ZNF397,intron_variant,,ENST00000592264,;ZNF397,downstream_gene_variant,,ENST00000585800,;ZNF397,downstream_gene_variant,,ENST00000591206,;ZNF397,downstream_gene_variant,,ENST00000588119,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZNF397,intron_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;							MODERATE	1362/1605	E454D	ZN397_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000331577		CCDS45852.1			1	
ATXN7L3	0	LGGM	GRCh37	17	42275076	42275076	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	36	32	.	.	ENST00000454077.2:c.74C>T	p.Ala25Val	p.A25V	ENST00000454077	NM_020218.1	25	gCg/gTg	0	1		UPI0000DA6BB8	0	NA	ENST00000389384		ENSG00000087152	25416		68	-0.55		HGNC	p.A25V		ATXN7L3		SNV							ENST00000589805	protein_coding	getma.org/?cm=var&var=hg19,17,42275076,G,A&fts=all		HAMAP:MF_03047,hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF6		A/V		A	neutral	383/3811		getma.org/?cm=msa&ty=f&p=AT7L3_HUMAN&rb=1&re=79&var=A25V	tolerated(0.12)	K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EKG9_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN				ATXN7L3,missense_variant,p.Ala25Val,ENST00000389384,NM_001098833.1;ATXN7L3,missense_variant,p.Ala25Val,ENST00000454077,NM_020218.1;ATXN7L3,missense_variant,p.Ala25Val,ENST00000587097,;ATXN7L3,missense_variant,p.Ala25Val,ENST00000589805,;ATXN7L3,missense_variant,p.Ala25Val,ENST00000590169,;ATXN7L3,upstream_gene_variant,,ENST00000591295,;ATXN7L3,upstream_gene_variant,,ENST00000590537,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,intron_variant,,ENST00000593073,;ATXN7L3,upstream_gene_variant,,ENST00000589607,;ATXN7L3,upstream_gene_variant,,ENST00000591807,;ATXN7L3,upstream_gene_variant,,ENST00000586688,;ATXN7L3,upstream_gene_variant,,ENST00000587022,;							MODERATE	74/1044	A25V	AT7L3_HUMAN			Transcript		benign(0.003)	.	ENSP00000374035		CCDS42345.1			1	
SMYD2	0	LGGM	GRCh37	1	214504351	214504351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	73	32	.	.	ENST00000366957.5:c.875G>T	p.Arg292Leu	p.R292L	ENST00000366957	NM_020197.2	292	cGa/cTa	0	1	1	UPI0000205E5F	0	getma.org/pdb.php?prot=SMYD2_HUMAN&from=242&to=433&var=R292L	ENST00000366957		ENSG00000143499	20982		105	1.245		HGNC	p.R11L		SMYD2		SNV							ENST00000416415	protein_coding	getma.org/?cm=var&var=hg19,1,214504351,G,T&fts=all		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF15		R/L		T	low	897/1671		getma.org/?cm=msa&ty=f&p=SMYD2_HUMAN&rb=242&re=433&var=R292L	tolerated(0.09)	I6L9H7_HUMAN			YES	SMYD2,missense_variant,p.Arg292Leu,ENST00000366957,NM_020197.2;SMYD2,missense_variant,p.Arg11Leu,ENST00000416415,;SMYD2,intron_variant,,ENST00000415093,;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,non_coding_transcript_exon_variant,,ENST00000484459,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;							MODERATE	875/1302	R292L	SMYD2_HUMAN			Transcript		benign(0.016)	.	ENSP00000355924		CCDS31022.1			1	
HDAC3	0	LGGM	GRCh37	5	141014410	141014410	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	42	36	.	.	ENST00000305264.3:c.249G>A	p.Lys83=	p.K83=	ENST00000305264	NM_003883.3	83	aaG/aaA	0	1	1	UPI000003552A	0		ENST00000305264		ENSG00000171720	4854		78			HGNC	p.K83K		HDAC3		SNV							ENST00000305264	protein_coding			hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768		K		T		329/1959				Q9H368_HUMAN,B5MGH4_HUMAN			YES	HDAC3,synonymous_variant,p.=,ENST00000305264,NM_003883.3;HDAC3,intron_variant,,ENST00000523088,;FCHSD1,downstream_gene_variant,,ENST00000435817,NM_033449.2;RELL2,upstream_gene_variant,,ENST00000297164,NM_173828.4;RELL2,upstream_gene_variant,,ENST00000444782,NM_001130029.1;RELL2,upstream_gene_variant,,ENST00000521367,;RELL2,upstream_gene_variant,,ENST00000518856,;FCHSD1,downstream_gene_variant,,ENST00000523856,;RELL2,upstream_gene_variant,,ENST00000518025,;RELL2,upstream_gene_variant,,ENST00000520674,;RELL2,upstream_gene_variant,,ENST00000517794,;HDAC3,non_coding_transcript_exon_variant,,ENST00000469550,;HDAC3,non_coding_transcript_exon_variant,,ENST00000495485,;HDAC3,non_coding_transcript_exon_variant,,ENST00000471968,;HDAC3,intron_variant,,ENST00000519474,;FCHSD1,downstream_gene_variant,,ENST00000520747,;HDAC3,downstream_gene_variant,,ENST00000492506,;HDAC3,upstream_gene_variant,,ENST00000467533,;							LOW	249/1287		HDAC3_HUMAN			Transcript			.	ENSP00000302967		CCDS4264.1			1	
SEMA3E	0	LGGM	GRCh37	7	82997196	82997196	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	59	37	.	.	ENST00000307792.3:c.2034C>A	p.Val678=	p.V678=	ENST00000307792	NM_012431.2	678	gtC/gtA	0	1	1	UPI0000135A68	0		ENST00000307792		ENSG00000170381	10727		96			HGNC	p.V678V	COSM1659372	SEMA3E		SNV			1			1	ENST00000307792	protein_coding			hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22		V		T		2502/6476				F8WCZ5_HUMAN,C9JVH5_HUMAN			YES	SEMA3E,synonymous_variant,p.=,ENST00000307792,NM_012431.2;SEMA3E,synonymous_variant,p.=,ENST00000427262,NM_001178129.1;					1		LOW	2034/2328		SEM3E_HUMAN			Transcript			.	ENSP00000303212		CCDS34674.1			1	
CRTAP	0	LGGM	GRCh37	3	33171541	33171541	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	47	37	.	.	ENST00000320954.6:c.904C>T	p.Gln302Ter	p.Q302*	ENST00000320954	NM_006371.4	302	Cag/Tag	0	1	1	UPI000012700A	0	NA	ENST00000320954		ENSG00000170275	2379		84	0		HGNC	p.Q302X		CRTAP		SNV			1				ENST00000320954	protein_coding	getma.org/?cm=var&var=hg19,3,33171541,C,T&fts=all		hmmpanther:PTHR13986,hmmpanther:PTHR13986:SF3		Q/*		T	NA	1003/6630		NA		Q8NB01_HUMAN,B4DPA3_HUMAN			YES	CRTAP,stop_gained,p.Gln302Ter,ENST00000320954,NM_006371.4;CRTAP,intron_variant,,ENST00000449224,;CRTAP,non_coding_transcript_exon_variant,,ENST00000485310,;							HIGH	904/1206	Q302*	CRTAP_HUMAN			Transcript			.	ENSP00000323696		CCDS2657.1			1	
NLRP3	0	LGGM	GRCh37	1	247593001	247593001	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	61	37	.	.	ENST00000336119.3:c.2271G>T	p.Gly757=	p.G757=	ENST00000336119	NM_001127462.2	757	ggG/ggT	0	1	1	UPI00001CE3AD	0		ENST00000336119		ENSG00000162711	16400		98			HGNC	p.G757G		NLRP3		SNV			1				ENST00000391828	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,SMART_domains:SM00368,Superfamily_domains:SSF52047		G		T		3017/4170				Q65Z67_HUMAN,B7ZKS9_HUMAN			YES	NLRP3,synonymous_variant,p.=,ENST00000366497,NM_001127461.2;NLRP3,synonymous_variant,p.=,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,synonymous_variant,p.=,ENST00000366496,;NLRP3,synonymous_variant,p.=,ENST00000391828,NM_001079821.2;NLRP3,intron_variant,,ENST00000348069,NM_183395.2;NLRP3,intron_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000474792,;							LOW	2271/3111		NALP3_HUMAN			Transcript			.	ENSP00000337383		CCDS1632.1			1	
MAST3	0	LGGM	GRCh37	19	18246550	18246550	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	53	37	.	.	ENST00000262811.6:c.1784del	p.Asp595ValfsTer40	p.D595Vfs*40	ENST00000262811	NM_015016.1	595	gAt/gt	0	1	1	UPI00001D8275	0		ENST00000262811		ENSG00000099308	19036		90			HGNC	p.D595fs		MAST3		deletion							ENST00000262811	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF140,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/X		-		1784/5896							YES	MAST3,frameshift_variant,p.Asp595ValfsTer40,ENST00000262811,NM_015016.1;MAST3,upstream_gene_variant,,ENST00000609494,;							HIGH	1784/3930		MAST3_HUMAN			Transcript			.	ENSP00000262811		CCDS46014.1			1	
DNAH17	0	LGGM	GRCh37	17	76571040	76571040	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	57	37	.	.	ENST00000389840.5:c.100G>A	p.Glu34Lys	p.E34K	ENST00000389840		34	Gag/Aag	0	1	1	UPI0001A5EE11	0	NA	ENST00000389840		ENSG00000187775	2946		94	2.14		HGNC	p.E34K	rs767044912	DNAH17	0.000243	SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76571040,C,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676		E/K		T	medium	225/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=1&re=185&var=E34K					YES	DNAH17,missense_variant,p.Glu34Lys,ENST00000389840,;DNAH17,missense_variant,p.Glu34Lys,ENST00000585328,NM_173628.3;DNAH17,upstream_gene_variant,,ENST00000589793,;							MODERATE	100/13458	E34K	DYH17_HUMAN			Transcript		benign(0.216)	.	ENSP00000374490	3.31E-05				1	
UBBP4	0	LGGM	GRCh37	17	21730863	21730863	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	80	40	.	.	ENST00000578713.1:c.165T>C	p.Ser55=	p.S55=	ENST00000578713		55	agT/agC	0	1	1	UPI000268AF41	0		ENST00000578713		ENSG00000263563	12467		120			HGNC	p.S55S		UBBP4		SNV							ENST00000584755	protein_coding			PROSITE_profiles:PS50053,hmmpanther:PTHR10666,Gene3D:3.10.20.90,Pfam_domain:PF00240,SMART_domains:SM00213,Superfamily_domains:SSF54236		S		C		169/821				J3QSA3_HUMAN,J3QRK5_HUMAN,J3KSM4_HUMAN,A8CGI2_HUMAN			YES	UBBP4,synonymous_variant,p.=,ENST00000584755,;UBBP4,synonymous_variant,p.=,ENST00000578713,;UBBP4,synonymous_variant,p.=,ENST00000581769,;UBBP4,intron_variant,,ENST00000583708,;UBBP4,intron_variant,,ENST00000584398,;UBBP4,upstream_gene_variant,,ENST00000581775,;							LOW	165/690					Transcript			.	ENSP00000464265					1	
OR6T1	0	LGGM	GRCh37	11	123813762	123813762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	59	46	.	.	ENST00000321252.2:c.784A>G	p.Met262Val	p.M262V	ENST00000321252	NM_001005187.1	262	Atg/Gtg	0	1	1	UPI0000040A85	0	NA	ENST00000321252		ENSG00000181499	14848		105	0		HGNC	p.M262V		OR6T1		SNV							ENST00000321252	protein_coding	getma.org/?cm=var&var=hg19,11,123813762,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF91,Superfamily_domains:SSF81321		M/V		C	neutral	819/1089		getma.org/?cm=msa&ty=f&p=OR6T1_HUMAN&rb=139&re=283&var=M262V	tolerated(0.06)				YES	OR6T1,missense_variant,p.Met262Val,ENST00000321252,NM_001005187.1;OR4D5,downstream_gene_variant,,ENST00000307033,NM_001001965.1;							MODERATE	784/972	M262V	OR6T1_HUMAN			Transcript		benign(0.026)	.	ENSP00000325203		CCDS31700.1			1	
TTN	0	LGGM	GRCh37	2	179435902	179435902	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	101	48	.	.	ENST00000589042.1:c.74957A>T	p.Glu24986Val	p.E24986V	ENST00000589042	NM_001267550.1	24986	gAg/gTg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=23269&to=23354&var=E23345V	ENST00000591111		ENSG00000155657	12403		149	1.115		HGNC	p.E16046V		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179435902,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		E/V		A	low	70259/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=23269&re=23354&var=E23345V		C9JQJ2_HUMAN				TTN,missense_variant,p.Glu24986Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Glu23345Val,ENST00000591111,;TTN,missense_variant,p.Glu22418Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Glu16113Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Glu16046Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Glu15921Val,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,;							MODERATE	70034/103053	E23345V	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PTPN9	0	LGGM	GRCh37	15	75766090	75766090	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061195	H061195N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	63	49	.	.	ENST00000306726.2:c.1148A>G	p.Tyr383Cys	p.Y383C	ENST00000306726	NM_002833.2	383	tAt/tGt	0	1	1	UPI0000000CAC	0	getma.org/pdb.php?prot=PTN9_HUMAN&from=327&to=573&var=Y383C	ENST00000306726		ENSG00000169410	9661		112	-0.3		HGNC	p.Y383C	rs767314169	PTPN9		SNV							ENST00000306726	protein_coding	getma.org/?cm=var&var=hg19,15,75766090,T,C&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF194,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700		Y/C		C	neutral	1661/3943	4.51E-05	getma.org/?cm=msa&ty=f&p=PTN9_HUMAN&rb=327&re=573&var=Y383C	tolerated(0.19)				YES	PTPN9,missense_variant,p.Tyr383Cys,ENST00000306726,NM_002833.2;PTPN9,non_coding_transcript_exon_variant,,ENST00000563835,;PTPN9,upstream_gene_variant,,ENST00000568108,;							MODERATE	1148/1782	Y383C	PTN9_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000303554	2.47E-05	CCDS10280.1			1	
PDZD2	0	LGGM	GRCh37	5	32089517	32089517	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	59	49	.	.	ENST00000438447.1:c.5963C>A	p.Ser1988Tyr	p.S1988Y	ENST00000438447		1988	tCt/tAt	0	1	1	UPI000069648B	0	NA	ENST00000438447		ENSG00000133401	18486		108	1.59		HGNC	p.S1988Y		PDZD2		SNV							ENST00000438447	protein_coding	getma.org/?cm=var&var=hg19,5,32089517,C,A&fts=all		hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		S/Y		A	low	6351/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=1225&re=2328&var=S1988Y	deleterious(0)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Ser1988Tyr,ENST00000438447,;PDZD2,missense_variant,p.Ser1988Tyr,ENST00000282493,NM_178140.2;							MODERATE	5963/8520	S1988Y	PDZD2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000402033		CCDS34137.1			1	
SLC8A3	0	LGGM	GRCh37	14	70633700	70633700	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	78	50	.	.	ENST00000381269.2:c.1440C>A	p.Phe480Leu	p.F480L	ENST00000381269	NM_183002.1	480	ttC/ttA	0	1	1	UPI0000073C9A	0	getma.org/pdb.php?prot=NAC3_HUMAN&from=385&to=485&var=F480L	ENST00000381269		ENSG00000100678	11070		128	2.705		HGNC	p.F480L		SLC8A3		SNV							ENST00000381269	protein_coding	getma.org/?cm=var&var=hg19,14,70633700,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,Pfam_domain:PF03160,TIGRFAM_domain:TIGR00845,SMART_domains:SM00237,Superfamily_domains:SSF141072		F/L		T	medium	2194/5268		getma.org/?cm=msa&ty=f&p=NAC3_HUMAN&rb=385&re=485&var=F480L	deleterious(0.02)	Q86TQ9_HUMAN			YES	SLC8A3,missense_variant,p.Phe480Leu,ENST00000381269,NM_183002.1,NM_058240.2;SLC8A3,missense_variant,p.Phe480Leu,ENST00000357887,NM_033262.3;SLC8A3,missense_variant,p.Phe480Leu,ENST00000356921,NM_182932.1;SLC8A3,missense_variant,p.Phe480Leu,ENST00000528359,;SLC8A3,missense_variant,p.Phe480Leu,ENST00000534137,;SLC8A3,missense_variant,p.Phe480Leu,ENST00000494208,;							MODERATE	1440/2784	F480L	NAC3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370669		CCDS35498.1			1	
MSANTD4	0	LGGM	GRCh37	11	105880477	105880477	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	73	51	.	.	ENST00000301919.4:c.823T>C	p.Ser275Pro	p.S275P	ENST00000301919	NM_032424.1	275	Tcc/Ccc	0	1	1	UPI0000073CF1	0	NA	ENST00000301919		ENSG00000170903	29383		124	0		HGNC	p.S275P		MSANTD4		SNV							ENST00000301919	protein_coding	getma.org/?cm=var&var=hg19,11,105880477,A,G&fts=all		hmmpanther:PTHR21732,Coiled-coils_(Ncoils):Coil		S/P		G	neutral	2239/4087		getma.org/?cm=msa&ty=f&p=MSD4_HUMAN&rb=201&re=345&var=S275P	tolerated(0.25)	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN			YES	MSANTD4,missense_variant,p.Ser275Pro,ENST00000301919,NM_032424.1;MSANTD4,downstream_gene_variant,,ENST00000530788,;MSANTD4,downstream_gene_variant,,ENST00000530108,;MSANTD4,downstream_gene_variant,,ENST00000534458,;MSANTD4,upstream_gene_variant,,ENST00000529805,;							MODERATE	823/1038	S275P	MSD4_HUMAN			Transcript		benign(0)	.	ENSP00000304713		CCDS31663.1			1	
NEDD1	0	LGGM	GRCh37	12	97328945	97328945	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	53	51	.	.	ENST00000557644.1:c.702G>A	p.Leu234=	p.L234=	ENST00000557644	NM_001135175.1	234	ttG/ttA	0	1		UPI000004F17B	0		ENST00000266742		ENSG00000139350	7723		104			HGNC	p.L227L		NEDD1		SNV							ENST00000429527	protein_coding			PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		L		A		1020/3620				G3V4L2_HUMAN,G3V4I9_HUMAN,G3V2M9_HUMAN				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;NEDD1,synonymous_variant,p.=,ENST00000553609,;NEDD1,downstream_gene_variant,,ENST00000557478,;NEDD1,non_coding_transcript_exon_variant,,ENST00000555114,;NEDD1,non_coding_transcript_exon_variant,,ENST00000557454,;NEDD1,intron_variant,,ENST00000555806,;							LOW	681/1983		NEDD1_HUMAN			Transcript			.	ENSP00000266742		CCDS9063.1			1	
C7orf49	0	LGGM	GRCh37	7	134853573	134853573	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	147	53	.	.	ENST00000393114.3:c.102G>A	p.Arg34=	p.R34=	ENST00000393114		34	agG/agA	0	1	1	UPI00003742B5	0		ENST00000393114		ENSG00000122783	22432		200			HGNC	p.D20N		C7orf49		SNV							ENST00000430372	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14566		R		T		284/1482							YES	C7orf49,missense_variant,p.Asp20Asn,ENST00000430372,NM_024033.3,NM_001243751.1;C7orf49,synonymous_variant,p.=,ENST00000393114,;C7orf49,5_prime_UTR_variant,,ENST00000424142,NM_001243749.1,NM_001243753.1;C7orf49,intron_variant,,ENST00000483029,;TMEM140,downstream_gene_variant,,ENST00000275767,NM_018295.4;RP11-134L10.1,non_coding_transcript_exon_variant,,ENST00000608819,;C7orf49,non_coding_transcript_exon_variant,,ENST00000459937,;C7orf49,non_coding_transcript_exon_variant,,ENST00000472428,;C7orf49,intron_variant,,ENST00000477820,;C7orf49,upstream_gene_variant,,ENST00000488161,;C7orf49,non_coding_transcript_exon_variant,,ENST00000487774,;C7orf49,non_coding_transcript_exon_variant,,ENST00000486115,;C7orf49,upstream_gene_variant,,ENST00000481410,;							LOW	102/474		MRI_HUMAN			Transcript			.	ENSP00000376823		CCDS5838.2			1	
MUC4	0	LGGM	GRCh37	3	195509290	195509290	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	57	53	.	.	ENST00000463781.3:c.9161C>T	p.Ala3054Val	p.A3054V	ENST00000463781	NM_018406.6	3054	gCc/gTc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		110	0.55		HGNC	p.A3054V		MUC4		SNV							ENST00000477086	protein_coding	getma.org/?cm=var&var=hg19,3,195509290,G,A&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		A/V		A	neutral	9621/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=A3054V		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Ala3054Val,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ala3054Val,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ala3054Val,ENST00000478156,;MUC4,missense_variant,p.Ala3054Val,ENST00000466475,;MUC4,missense_variant,p.Ala3054Val,ENST00000477756,;MUC4,missense_variant,p.Ala3054Val,ENST00000477086,;MUC4,missense_variant,p.Ala3054Val,ENST00000480843,;MUC4,missense_variant,p.Ala3054Val,ENST00000462323,;MUC4,missense_variant,p.Ala3054Val,ENST00000470451,;MUC4,missense_variant,p.Ala3054Val,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	9161/16239	A3054V				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
MYO1H	0	LGGM	GRCh37	12	109883371	109883371	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	91	62	.	.	ENST00000310903.5:c.2999G>A	p.Gly1000Glu	p.G1000E	ENST00000310903		1000	gGa/gAa	0	1	1	UPI0001AFF951	0	NA	ENST00000310903		ENSG00000174527	13879		153	2.9		HGNC	p.G1000E		MYO1H		SNV							ENST00000310903	protein_coding	getma.org/?cm=var&var=hg19,12,109883371,G,A&fts=all		Pfam_domain:PF06017		G/E		A	medium	3105/4364		getma.org/?cm=msa&ty=f&p=MYO1H_HUMAN&rb=843&re=1029&var=G1010E	deleterious(0)	S4R387_HUMAN,F5H3C6_HUMAN			YES	MYO1H,missense_variant,p.Gly1000Glu,ENST00000310903,;MYO1H,missense_variant,p.Gly1010Glu,ENST00000431443,NM_001101421.3;KCTD10,downstream_gene_variant,,ENST00000228495,NM_031954.3;KCTD10,downstream_gene_variant,,ENST00000540089,;KCTD10,downstream_gene_variant,,ENST00000424763,;RP11-256L11.3,non_coding_transcript_exon_variant,,ENST00000539987,;MYO1H,missense_variant,p.Gly104Glu,ENST00000543960,;MYO1H,non_coding_transcript_exon_variant,,ENST00000542268,;KCTD10,downstream_gene_variant,,ENST00000545759,;KCTD10,downstream_gene_variant,,ENST00000440541,;MYO1H,downstream_gene_variant,,ENST00000457826,;							MODERATE	2999/3069	G1010E				Transcript		probably_damaging(1)	.	ENSP00000439182		CCDS53826.1			1	
ZNF28	0	LGGM	GRCh37	19	53304939	53304939	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	90	62	.	.	ENST00000457749.2:c.159C>A	p.Cys53Ter	p.C53*	ENST00000457749	NM_006969.3	53	tgC/tgA	0	1	1	UPI00001D8190	0	NA	ENST00000457749		ENSG00000198538	13073		152	0		HGNC	p.C50X		ZNF28		SNV							ENST00000596559	protein_coding	getma.org/?cm=var&var=hg19,19,53304939,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,SMART_domains:SM00349		C/*		T	NA	279/4556		NA		C9K0H3_HUMAN			YES	ZNF28,stop_gained,p.Cys53Ter,ENST00000457749,NM_006969.3;ZNF28,stop_gained,p.Cys50Ter,ENST00000596559,;ZNF28,missense_variant,p.His93Asn,ENST00000594602,;ZNF28,5_prime_UTR_variant,,ENST00000438150,;ZNF28,5_prime_UTR_variant,,ENST00000360272,;ZNF28,5_prime_UTR_variant,,ENST00000414252,;ZNF28,5_prime_UTR_variant,,ENST00000391783,;ZNF28,intron_variant,,ENST00000339844,;							HIGH	159/2157	C53*	ZNF28_HUMAN			Transcript			.	ENSP00000397693		CCDS33093.2			1	
PRRC2C	0	LGGM	GRCh37	1	171501734	171501734	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	48	63	.	.	ENST00000338920.4:c.1501C>T	p.Pro501Ser	p.P501S	ENST00000338920	NM_015172.3	501	Cca/Tca	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		111	1.265		HGNC	p.P501S		PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171501734,C,T&fts=all		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		P/S		T	low	1738/10355		getma.org/?cm=msa&ty=f&p=PRC2C_HUMAN&rb=365&re=564&var=P501S					YES	PRRC2C,missense_variant,p.Pro503Ser,ENST00000367742,;PRRC2C,missense_variant,p.Pro501Ser,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Pro503Ser,ENST00000392078,;PRRC2C,missense_variant,p.Pro501Ser,ENST00000426496,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,;							MODERATE	1501/8454	P501S	PRC2C_HUMAN			Transcript		unknown(0)	.	ENSP00000343629		CCDS1296.2			1	
ZNF28	0	LGGM	GRCh37	19	53304940	53304940	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061195	H061195N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	84	63	.	.	ENST00000457749.2:c.158G>A	p.Cys53Tyr	p.C53Y	ENST00000457749	NM_006969.3	53	tGc/tAc	0	1	1	UPI00001D8190	0	NA	ENST00000457749		ENSG00000198538	13073		147	1.73		HGNC	p.M92I		ZNF28		SNV							ENST00000594602	protein_coding	getma.org/?cm=var&var=hg19,19,53304940,C,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,SMART_domains:SM00349		C/Y		T	low	278/4556		getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=8&re=81&var=C53Y	tolerated(1)	C9K0H3_HUMAN			YES	ZNF28,missense_variant,p.Cys53Tyr,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Met92Ile,ENST00000594602,;ZNF28,missense_variant,p.Cys50Tyr,ENST00000596559,;ZNF28,5_prime_UTR_variant,,ENST00000438150,;ZNF28,5_prime_UTR_variant,,ENST00000360272,;ZNF28,5_prime_UTR_variant,,ENST00000414252,;ZNF28,5_prime_UTR_variant,,ENST00000391783,;ZNF28,intron_variant,,ENST00000339844,;							MODERATE	158/2157	C53Y	ZNF28_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000397693		CCDS33093.2			1	
GPR98	0	LGGM	GRCh37	5	90046470	90046470	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	138	72	.	.	ENST00000405460.2:c.11077G>T	p.Glu3693Ter	p.E3693*	ENST00000405460	NM_032119.3	3693	Gaa/Taa	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		210	0		HGNC	p.E3693X		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90046470,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		E/*		T	NA	11173/19338		NA					YES	GPR98,stop_gained,p.Glu3693Ter,ENST00000405460,NM_032119.3;GPR98,stop_gained,p.Glu1259Ter,ENST00000509621,;							HIGH	11077/18921	E3693*	GPR98_HUMAN			Transcript			.	ENSP00000384582		CCDS47246.1			1	
TTN	0	LGGM	GRCh37	2	179414343	179414343	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	137	77	.	.	ENST00000589042.1:c.92106T>C	p.Val30702=	p.V30702=	ENST00000589042	NM_001267550.1	30702	gtT/gtC	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		214			HGNC	p.V21762V		TTN		SNV			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		V		G		87408/104301				C9JQJ2_HUMAN				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;RP11-65L3.2,non_coding_transcript_exon_variant,,ENST00000603415,;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,;							LOW	87183/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
HGSNAT	0	LGGM	GRCh37	8	43013801	43013801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061195	H061195N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	135	96	.	.	ENST00000379644.4:c.318G>T	p.Gln106His	p.Q106H	ENST00000379644	NM_152419.2	106	caG/caT	0	1	1	UPI000057A06E	0	NA	ENST00000379644		ENSG00000165102	26527		231	1.79		HGNC	p.Q134H		HGSNAT		SNV			1				ENST00000458501	protein_coding	getma.org/?cm=var&var=hg19,8,43013801,G,T&fts=all		hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2		Q/H		T	low	360/5236		getma.org/?cm=msa&ty=f&p=HGNAT_HUMAN&rb=1&re=200&var=Q134H	deleterious(0.01)				YES	HGSNAT,missense_variant,p.Gln134His,ENST00000458501,;HGSNAT,missense_variant,p.Gln106His,ENST00000379644,NM_152419.2;HGSNAT,missense_variant,p.Gln56His,ENST00000520704,;HGSNAT,intron_variant,,ENST00000517319,;							MODERATE	318/1908	Q134H	HGNAT_HUMAN			Transcript		benign(0.02)	.	ENSP00000368965		CCDS47852.1			1	
C3orf52	0	LGGM	GRCh37	3	111812241	111812241	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061195	H061195N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061195N.bam, H061195T.bam	Illumina HiSeq	135	107	.	.	ENST00000431717.2:c.173A>C	p.Lys58Thr	p.K58T	ENST00000431717	NM_001171747.1	58	aAg/aCg	0	1		UPI0000209F35	0	NA	ENST00000264848		ENSG00000114529	26255		242	2.075		HGNC	p.K58T		C3orf52		SNV							ENST00000430855	protein_coding	getma.org/?cm=var&var=hg19,3,111812241,A,C&fts=all		hmmpanther:PTHR14636,hmmpanther:PTHR14636:SF0		K/T		C	medium	232/2277		getma.org/?cm=msa&ty=f&p=TTMP_HUMAN&rb=4&re=214&var=K58T	deleterious(0.04)					C3orf52,missense_variant,p.Lys58Thr,ENST00000264848,NM_024616.2;C3orf52,missense_variant,p.Lys58Thr,ENST00000431717,NM_001171747.1;C3orf52,missense_variant,p.Lys49Thr,ENST00000484828,;C3orf52,missense_variant,p.Lys58Thr,ENST00000430855,;C3orf52,missense_variant,p.Lys58Thr,ENST00000480282,;C3orf52,non_coding_transcript_exon_variant,,ENST00000497610,;							MODERATE	173/654	K58T	TTMP_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000264848		CCDS46887.1			1	
CXorf67	0	LGGM	GRCh37	X	51150546	51150546	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	1	2	.	.	ENST00000342995.2:c.678A>T	p.Arg226Ser	p.R226S	ENST00000342995		226	agA/agT	0	1	1	UPI000000DB6D	0		ENST00000342995		ENSG00000187690	33738		3			HGNC	p.R226S		CXorf67		SNV							ENST00000342995	protein_coding			hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0		R/S		T		780/1921			tolerated(1)				YES	CXorf67,missense_variant,p.Arg226Ser,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;							MODERATE	678/1512		CX067_HUMAN			Transcript		benign(0.058)	.	ENSP00000342680					1	
EFNA2	0	LGGM	GRCh37	19	1299907	1299907	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	4	2	.	.	ENST00000215368.2:c.605G>C	p.Ser202Thr	p.S202T	ENST00000215368	NM_001405.3	202	aGc/aCc	0	1	1	UPI0000129C8E	0	NA	ENST00000215368		ENSG00000099617	3222		6	0		HGNC	p.S202T		EFNA2		SNV							ENST00000215368	protein_coding	getma.org/?cm=var&var=hg19,19,1299907,G,C&fts=all		hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF4		S/T		C	neutral	620/2143		getma.org/?cm=msa&ty=f&p=EFNA2_HUMAN&rb=177&re=213&var=S202T	tolerated_low_confidence(0.33)	Q9HCB5_HUMAN			YES	EFNA2,missense_variant,p.Ser202Thr,ENST00000215368,NM_001405.3;MUM1,intron_variant,,ENST00000344663,;							MODERATE	605/642	S202T	EFNA2_HUMAN			Transcript		benign(0.001)	.	ENSP00000215368		CCDS12061.1			1	
MADCAM1	0	LGGM	GRCh37	19	498523	498523	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	8	2	.	.	ENST00000215637.3:c.365C>G	p.Pro122Arg	p.P122R	ENST00000215637	NM_130760.2	122	cCa/cGa	0	1	1	UPI000013C68F	0	getma.org/pdb.php?prot=MADCA_HUMAN&from=113&to=224&var=P122R	ENST00000215637		ENSG00000099866	6765		10	1.1		HGNC	p.P122R		MADCAM1		SNV							ENST00000215637	protein_coding	getma.org/?cm=var&var=hg19,19,498523,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF09085,hmmpanther:PTHR14162,hmmpanther:PTHR14162:SF0,Superfamily_domains:SSF48726		P/R		G	low	411/1577		getma.org/?cm=msa&ty=f&p=MADCA_HUMAN&rb=113&re=224&var=P122R	deleterious(0.01)	B9EGE2_HUMAN			YES	MADCAM1,missense_variant,p.Pro122Arg,ENST00000215637,NM_130760.2;MADCAM1,missense_variant,p.Pro122Arg,ENST00000346144,NM_130762.2;MADCAM1,missense_variant,p.Pro27Arg,ENST00000382683,;MADCAM1,intron_variant,,ENST00000587541,;AC005775.2,intron_variant,,ENST00000592413,;							MODERATE	365/1149	P122R	MADCA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000215637		CCDS12028.1			1	
OPHN1	0	LGGM	GRCh37	X	67431995	67431995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	2	2	.	.	ENST00000355520.5:c.657G>T	p.Gln219His	p.Q219H	ENST00000355520	NM_002547.2	219	caG/caT	0	1	1	UPI000003319E	0	NA	ENST00000355520		ENSG00000079482	8148		4	0.455		HGNC	p.Q219H		OPHN1		SNV			1				ENST00000540071	protein_coding	getma.org/?cm=var&var=hg19,X,67431995,C,A&fts=all		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF2,Superfamily_domains:SSF103657		Q/H		A	neutral	1299/7879		getma.org/?cm=msa&ty=f&p=OPHN1_HUMAN&rb=201&re=387&var=Q219H	tolerated(0.15)	Q7Z2H1_HUMAN			YES	OPHN1,missense_variant,p.Gln219His,ENST00000355520,NM_002547.2;OPHN1,missense_variant,p.Gln219His,ENST00000540071,;OPHN1,upstream_gene_variant,,ENST00000467444,;							MODERATE	657/2409	Q219H	OPHN1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000347710		CCDS14388.1			1	
CAMSAP1	0	LGGM	GRCh37	9	138710993	138710993	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	10	3	.	.	ENST00000389532.4:c.3823-1G>T		p.X1275_splice	ENST00000389532	NM_015447.3			0	1	1	UPI0000EDA283	0		ENST00000389532		ENSG00000130559	19946		13			HGNC	-		CAMSAP1		SNV							ENST00000389532	protein_coding							A		-/7696							YES	CAMSAP1,splice_acceptor_variant,,ENST00000389532,NM_015447.3;CAMSAP1,splice_acceptor_variant,,ENST00000312405,;CAMSAP1,splice_acceptor_variant,,ENST00000409386,;CAMSAP1,splice_acceptor_variant,,ENST00000483991,;CAMSAP1,upstream_gene_variant,,ENST00000493088,;CAMSAP1,upstream_gene_variant,,ENST00000482664,;CAMSAP1,upstream_gene_variant,,ENST00000487868,;							HIGH	3823/4809		CAMP1_HUMAN			Transcript			.	ENSP00000374183		CCDS35176.2			1	
ITGAM	0	LGGM	GRCh37	16	31341486	31341486	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	42	3	.	.	ENST00000544665.3:c.3063+1G>T		p.X1021_splice	ENST00000544665	NM_001145808.1			0	1		UPI00000498C2	0		ENST00000287497		ENSG00000169896	6149		45			HGNC	-	COSM435168	ITGAM		SNV			1			1	ENST00000287497	protein_coding							T		-/3595				B3KXM6_HUMAN				ITGAM,splice_donor_variant,,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,splice_donor_variant,,ENST00000287497,;ITGAM,upstream_gene_variant,,ENST00000565142,;ITGAM,downstream_gene_variant,,ENST00000569746,;ITGAM,downstream_gene_variant,,ENST00000561838,;ITGAM,downstream_gene_variant,,ENST00000567178,;					1		HIGH	3060/3459		ITAM_HUMAN			Transcript			.	ENSP00000287497		CCDS45470.1			1	
FANCB	0	LGGM	GRCh37	X	14861891	14861891	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	38	3	.	.	ENST00000398334.1:c.2378G>C	p.Gly793Ala	p.G793A	ENST00000398334	NM_001018113.1	793	gGa/gCa	0	1		UPI000006E70A	0	NA	ENST00000324138		ENSG00000181544	3583		41	0.69		HGNC	p.G793A		FANCB		SNV			1				ENST00000324138	protein_coding	getma.org/?cm=var&var=hg19,X,14861891,C,G&fts=all				G/A		G	neutral	2532/2894		getma.org/?cm=msa&ty=f&p=FANCB_HUMAN&rb=750&re=859&var=G793A	tolerated(0.4)	C9J5X9_HUMAN				FANCB,missense_variant,p.Gly793Ala,ENST00000398334,NM_001018113.1;FANCB,missense_variant,p.Gly793Ala,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Gly793Ala,ENST00000452869,;							MODERATE	2378/2580	G793A	FANCB_HUMAN			Transcript		benign(0.164)	.	ENSP00000326819		CCDS14161.1			1	
KIF26B	0	LGGM	GRCh37	1	245849391	245849391	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	8	3	.	.	ENST00000407071.2:c.3106C>A	p.Pro1036Thr	p.P1036T	ENST00000407071	NM_018012.3	1036	Cca/Aca	0	1	1	UPI0000695D71	0	NA	ENST00000407071		ENSG00000162849	25484		11	0.69		HGNC	p.P1036T	rs775401092	KIF26B		SNV				0.000462			ENST00000407071	protein_coding	getma.org/?cm=var&var=hg19,1,245849391,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363,Low_complexity_(Seg):seg		P/T		A	neutral	3546/7287		getma.org/?cm=msa&ty=f&p=KI26B_HUMAN&rb=809&re=1789&var=P1036T	deleterious(0.02)	B4DF75_HUMAN			YES	KIF26B,missense_variant,p.Pro655Thr,ENST00000366518,;KIF26B,missense_variant,p.Pro1036Thr,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;							MODERATE	3106/6327	P1036T	KI26B_HUMAN			Transcript		unknown(0)	common_variant	ENSP00000385545	1.66E-05	CCDS44342.1			1	
OR8B3	0	LGGM	GRCh37	11	124267218	124267218	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	5	3	.	.	ENST00000354597.3:c.30T>A	p.Thr10=	p.T10=	ENST00000354597	NM_001005467.1	10	acT/acA	0	1	1	UPI000004B9C9	0		ENST00000354597		ENSG00000196661	8472		8			HGNC	p.T10T		OR8B3		SNV							ENST00000354597	protein_coding			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452:SF216,hmmpanther:PTHR26452		T		T		47/987							YES	OR8B3,synonymous_variant,p.=,ENST00000354597,NM_001005467.1;							LOW	30/942		OR8B3_HUMAN			Transcript			.	ENSP00000346611		CCDS31709.1			1	
TET3	0	LGGM	GRCh37	2	74328563	74328563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	3	.	.	ENST00000409262.3:c.4243C>A	p.Pro1415Thr	p.P1415T	ENST00000409262	NM_144993.1	1415	Cct/Act	0	1	1	UPI0000DD79F5	0	NA	ENST00000409262		ENSG00000187605	28313		21	1.83		HGNC	p.P1415T		TET3		SNV							ENST00000409262	protein_coding	getma.org/?cm=var&var=hg19,2,74328563,C,A&fts=all		Pfam_domain:PF12851,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4		P/T		A	low	4243/10983		getma.org/?cm=msa&ty=f&p=TET3_HUMAN&rb=850&re=1562&var=P1415T	tolerated(0.21)	K9JJH7_HUMAN			YES	TET3,missense_variant,p.Pro1415Thr,ENST00000409262,NM_144993.1,NM_001287491.1;							MODERATE	4243/4983	P1415T	TET3_HUMAN			Transcript		benign(0.111)	.	ENSP00000386869		CCDS46339.1			1	
TBX18	0	LGGM	GRCh37	6	85446942	85446942	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	29	3	.	.	ENST00000369663.5:c.1285C>A	p.Arg429=	p.R429=	ENST00000369663	NM_001080508.2	429	Cga/Aga	0	1	1	UPI00001A3A8A	0		ENST00000369663		ENSG00000112837	11595		32			HGNC	p.R429R		TBX18		SNV							ENST00000369663	protein_coding			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20		R		T		1623/6245				U3KQQ9_HUMAN,U3KQ31_HUMAN			YES	TBX18,synonymous_variant,p.=,ENST00000369663,NM_001080508.2;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000606521,;TBX18,downstream_gene_variant,,ENST00000607343,;							LOW	1285/1824		TBX18_HUMAN			Transcript			.	ENSP00000358677		CCDS34495.1			1	
SHPRH	0	LGGM	GRCh37	6	146248409	146248409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	31	3	.	.	ENST00000367505.2:c.3117G>T	p.Glu1039Asp	p.E1039D	ENST00000367505		1039	gaG/gaT	0	1		UPI0000458A24	0	NA	ENST00000275233		ENSG00000146414	19336		34	1.36		HGNC	p.E1039D		SHPRH		SNV							ENST00000275233	protein_coding	getma.org/?cm=var&var=hg19,6,146248409,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552		E/D		A	low	3516/6649		getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=988&re=1187&var=E1039D	tolerated(0.06)					SHPRH,missense_variant,p.Glu1048Asp,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Glu1039Asp,ENST00000367505,;SHPRH,missense_variant,p.Glu1048Asp,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Glu1039Asp,ENST00000275233,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,3_prime_UTR_variant,,ENST00000519632,;SHPRH,non_coding_transcript_exon_variant,,ENST00000523276,;							MODERATE	3117/5052	E1039D	SHPRH_HUMAN			Transcript		benign(0.442)	.	ENSP00000275233		CCDS43513.2			1	
WDR16	0	LGGM	GRCh37	17	9489263	9489263	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	3	.	.	ENST00000352665.5:c.244G>T	p.Gly82Ter	p.G82*	ENST00000352665	NM_145054.4	82	Gga/Tga	0	1	1	UPI00001AECC1	0	NA	ENST00000352665		ENSG00000166596	16053		40	0		HGNC	p.G92X		WDR16		SNV							ENST00000299764	protein_coding	getma.org/?cm=var&var=hg19,17,9489263,G,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF14,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/*		T	NA	313/2193		NA					YES	WDR16,stop_gained,p.Gly82Ter,ENST00000352665,NM_145054.4;WDR16,stop_gained,p.Gly92Ter,ENST00000299764,;WDR16,stop_gained,p.Gly82Ter,ENST00000576499,;WDR16,intron_variant,,ENST00000396219,NM_001080556.1;WDR16,3_prime_UTR_variant,,ENST00000576630,;WDR16,non_coding_transcript_exon_variant,,ENST00000576320,;WDR16,intron_variant,,ENST00000575247,;WDR16,intron_variant,,ENST00000572333,;WDR16,intron_variant,,ENST00000574937,;RPL19P18,downstream_gene_variant,,ENST00000466869,;							HIGH	244/1863	G82*	WDR16_HUMAN			Transcript			.	ENSP00000339449		CCDS11149.2			1	
OR10G8	0	LGGM	GRCh37	11	123900586	123900586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	3	.	.	ENST00000431524.1:c.257C>A	p.Pro86Gln	p.P86Q	ENST00000431524	NM_001004464.1	86	cCa/cAa	0	1	1	UPI0000040A8F	0	getma.org/pdb.php?prot=O10G8_HUMAN&from=1&to=137&var=P86Q	ENST00000431524		ENSG00000234560	14845		40	0.76		HGNC	p.P86Q		OR10G8		SNV							ENST00000431524	protein_coding	getma.org/?cm=var&var=hg19,11,123900586,C,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262		P/Q		A	neutral	290/1045		getma.org/?cm=msa&ty=f&p=O10G8_HUMAN&rb=1&re=137&var=P86Q	tolerated(0.67)				YES	OR10G8,missense_variant,p.Pro86Gln,ENST00000431524,NM_001004464.1;							MODERATE	257/936	P86Q	O10G8_HUMAN			Transcript		benign(0.072)	.	ENSP00000389072		CCDS31704.1			1	
ITPR2	0	LGGM	GRCh37	12	26589237	26589237	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	34	3	.	.	ENST00000381340.3:c.6686G>T	p.Trp2229Leu	p.W2229L	ENST00000381340	NM_002223.2	2229	tGg/tTg	0	1	1	UPI00001FB7D2	0	NA	ENST00000381340		ENSG00000123104	6181		37	2.85		HGNC	p.W2229L		ITPR2		SNV							ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26589237,C,A&fts=all		hmmpanther:PTHR13715,Transmembrane_helices:TMhelix		W/L		A	medium	7103/10511		getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=2228&re=2261&var=W2229L	deleterious(0)	I1VE21_HUMAN			YES	ITPR2,missense_variant,p.Trp2229Leu,ENST00000381340,NM_002223.2;ITPR2,3_prime_UTR_variant,,ENST00000451599,;							MODERATE	6686/8106	W2229L	ITPR2_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000370744		CCDS41764.1			1	
COL2A1	0	LGGM	GRCh37	12	48376680	48376680	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	22	3	.	.	ENST00000380518.3:c.2144T>A	p.Leu715His	p.L715H	ENST00000380518	NM_033150.2	715	cTc/cAc	0	1	1	UPI0000D79713	0	NA	ENST00000380518		ENSG00000139219	2200		25	1.445		HGNC	p.L715H		COL2A1		SNV			1				ENST00000380518	protein_coding	getma.org/?cm=var&var=hg19,12,48376680,A,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58		L/H		T	low	2309/5071		getma.org/?cm=msa&ty=f&p=CO2A1_HUMAN&rb=699&re=731&var=L715H					YES	COL2A1,missense_variant,p.Leu715His,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,missense_variant,p.Leu646His,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,non_coding_transcript_exon_variant,,ENST00000483376,;							MODERATE	2144/4464	L715H	CO2A1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000369889		CCDS41778.1			1	
FNDC1	0	LGGM	GRCh37	6	159688930	159688930	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	43	3	.	.	ENST00000297267.9:c.5541C>A	p.Ser1847=	p.S1847=	ENST00000297267	NM_032532.2	1847	tcC/tcA	0	1	1	UPI0000579B80	0		ENST00000297267		ENSG00000164694	21184		46			HGNC	p.S1784S		FNDC1		SNV							ENST00000340366	protein_coding			hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197		S		A		5741/6552							YES	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000340366,;FNDC1,synonymous_variant,p.=,ENST00000329629,;							LOW	5541/5685		FNDC1_HUMAN			Transcript			.	ENSP00000297267		CCDS47512.1			1	
CUL1	0	LGGM	GRCh37	7	148496439	148496439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	3	.	.	ENST00000325222.4:c.2209C>A	p.Gln737Lys	p.Q737K	ENST00000325222	NM_003592.2	737	Cag/Aag	0	1	1	UPI00001286E6	0	getma.org/pdb.php?prot=CUL1_HUMAN&from=703&to=770&var=Q737K	ENST00000325222		ENSG00000055130	2551		38	3.215		HGNC	p.Q737K		CUL1		SNV							ENST00000325222	protein_coding	getma.org/?cm=var&var=hg19,7,148496439,C,A&fts=all		hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Pfam_domain:PF10557,Gene3D:1.10.10.10,SMART_domains:SM00884,Superfamily_domains:SSF46785		Q/K		A	medium	2488/3064		getma.org/?cm=msa&ty=f&p=CUL1_HUMAN&rb=703&re=770&var=Q737K	deleterious(0)	Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN			YES	CUL1,missense_variant,p.Gln737Lys,ENST00000325222,NM_003592.2;CUL1,missense_variant,p.Gln737Lys,ENST00000602748,;CUL1,missense_variant,p.Gln737Lys,ENST00000409469,;							MODERATE	2209/2331	Q737K	CUL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000326804		CCDS34772.1			1	
STRN	0	LGGM	GRCh37	2	37082453	37082453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	44	3	.	.	ENST00000263918.4:c.1880C>A	p.Pro627Gln	p.P627Q	ENST00000263918	NM_003162.3	627	cCg/cAg	0	1	1	UPI000013D48A	0	NA	ENST00000263918		ENSG00000115808	11424		47	2.815		HGNC	p.P578Q		STRN		SNV							ENST00000379213	protein_coding	getma.org/?cm=var&var=hg19,2,37082453,G,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF2,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		P/Q		T	medium	1889/8168		getma.org/?cm=msa&ty=f&p=STRN_HUMAN&rb=598&re=695&var=P627Q	deleterious(0)				YES	STRN,missense_variant,p.Pro627Gln,ENST00000263918,NM_003162.3;STRN,missense_variant,p.Pro578Gln,ENST00000379213,;							MODERATE	1880/2343	P627Q	STRN_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000263918		CCDS1784.1			1	
RELN	0	LGGM	GRCh37	7	103214716	103214716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	30	3	.	.	ENST00000428762.1:c.4334C>A	p.Pro1445His	p.P1445H	ENST00000428762	NM_005045.3	1445	cCc/cAc	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=1372&to=1571&var=P1445H	ENST00000428762		ENSG00000189056	9957		33	1.7		HGNC	p.P1445H		RELN		SNV			1				ENST00000424685	protein_coding	getma.org/?cm=var&var=hg19,7,103214716,G,T&fts=all		hmmpanther:PTHR11841		P/H		T	low	4494/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1372&re=1571&var=P1445H	deleterious(0.02)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Pro1445His,ENST00000424685,;RELN,missense_variant,p.Pro1445His,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Pro1445His,ENST00000343529,NM_173054.2;							MODERATE	4334/10383	P1445H	RELN_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000392423		CCDS47680.1			1	
SYNE2	0	LGGM	GRCh37	14	64518356	64518356	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	30	3	.	.	ENST00000358025.3:c.7725C>A	p.Gly2575=	p.G2575=	ENST00000358025	NM_182914.2	2575	ggC/ggA	0	1		UPI00001B0452	0		ENST00000344113		ENSG00000054654	17084		33			HGNC	p.G2608G		SYNE2		SNV			1				ENST00000554584	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		G		A		7937/21777				Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				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,,ENST00000557005,;							LOW	7725/20658		SYNE2_HUMAN			Transcript			.	ENSP00000341781		CCDS41963.1			1	
PTX4	0	LGGM	GRCh37	16	1536343	1536343	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	3	.	.	ENST00000293922.1:c.1019C>A	p.Pro340Gln	p.P340Q	ENST00000293922	NM_001013658.1	340	cCg/cAg	0	1		UPI000041A984	0	getma.org/pdb.php?prot=PTX4_HUMAN&from=271&to=460&var=P345Q	ENST00000447419		ENSG00000251692	14171		23	1.94		HGNC	p.P340Q		PTX4		SNV							ENST00000293922	protein_coding	getma.org/?cm=var&var=hg19,16,1536343,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00354,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF34,SMART_domains:SM00159,Superfamily_domains:SSF49899		P/Q		T	medium	1060/1516		getma.org/?cm=msa&ty=f&p=PTX4_HUMAN&rb=271&re=460&var=P345Q	deleterious(0)					PTX4,missense_variant,p.Pro345Gln,ENST00000447419,;PTX4,missense_variant,p.Pro340Gln,ENST00000293922,NM_001013658.1;PTX4,3_prime_UTR_variant,,ENST00000440447,;							MODERATE	1034/1437	P345Q	PTX4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000445277					1	
EVC	0	LGGM	GRCh37	4	5800471	5800471	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	3	.	.	ENST00000382674.2:c.2256A>G	p.Ala752=	p.A752=	ENST00000382674		752	gcA/gcG	0	1		UPI000012A2A5	0		ENST00000264956		ENSG00000072840	3497		17			HGNC	p.A752A	rs746682279	EVC		SNV			1				ENST00000382674	protein_coding			hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF12		A		G		2440/6431	1.72E-05			Q4W5F2_HUMAN,Q4W5A3_HUMAN				EVC,synonymous_variant,p.=,ENST00000382674,;EVC,synonymous_variant,p.=,ENST00000264956,NM_153717.2;EVC,non_coding_transcript_exon_variant,,ENST00000515113,;CRMP1,intron_variant,,ENST00000506216,;EVC,downstream_gene_variant,,ENST00000506240,;							LOW	2256/2979		EVC_HUMAN			Transcript			.	ENSP00000264956	8.25E-06	CCDS3383.1			1	
KIAA0226L	0	LGGM	GRCh37	13	46919617	46919617	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	40	3	.	.	ENST00000429979.1:c.1750C>A	p.Leu584Met	p.L584M	ENST00000429979	NM_025113.2	584	Ctg/Atg	0	1		UPI00001FCD59	0	NA	ENST00000389908		ENSG00000102445	20420		43	2.235		HGNC	p.L427M		KIAA0226L		SNV							ENST00000322896	protein_coding	getma.org/?cm=var&var=hg19,13,46919617,G,T&fts=all		Pfam_domain:PF13901,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF9		L/M		T	medium	2333/2993		getma.org/?cm=msa&ty=f&p=K226L_HUMAN&rb=401&re=600&var=L584M	deleterious(0.01)	Q5W050_HUMAN,A8XR14_HUMAN,A8KAG9_HUMAN				KIAA0226L,missense_variant,p.Leu584Met,ENST00000429979,NM_025113.2;KIAA0226L,missense_variant,p.Leu427Met,ENST00000409879,;KIAA0226L,missense_variant,p.Leu584Met,ENST00000389908,;KIAA0226L,missense_variant,p.Leu517Met,ENST00000378784,NM_001286763.1;KIAA0226L,missense_variant,p.Leu449Met,ENST00000534925,NM_001286764.1;KIAA0226L,missense_variant,p.Leu427Met,ENST00000322896,;KIAA0226L,3_prime_UTR_variant,,ENST00000378781,;KIAA0226L,intron_variant,,ENST00000378797,NM_001286762.1;KIAA0226L,intron_variant,,ENST00000378787,;KIAA0226L,3_prime_UTR_variant,,ENST00000441284,;KIAA0226L,non_coding_transcript_exon_variant,,ENST00000487195,;PPP1R2P4,non_coding_transcript_exon_variant,,ENST00000535073,;							MODERATE	1750/1989	L584M	K226L_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000374558		CCDS31970.2			1	
KIF20B	0	LGGM	GRCh37	10	91487653	91487653	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	3	.	.	ENST00000260753.4:c.2151G>T	p.Lys717Asn	p.K717N	ENST00000260753	NM_016195.2	717	aaG/aaT	0	1		UPI000013D104	0	NA	ENST00000371728		ENSG00000138182	7212		38	1.87		HGNC	p.K757N		KIF20B		SNV							ENST00000416354	protein_coding	getma.org/?cm=var&var=hg19,10,91487653,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23165		K/N		T	low	2336/6419		getma.org/?cm=msa&ty=f&p=KI20B_HUMAN&rb=500&re=1079&var=K757N	deleterious(0.01)					KIF20B,missense_variant,p.Lys757Asn,ENST00000416354,;KIF20B,missense_variant,p.Lys757Asn,ENST00000371728,NM_001284259.1;KIF20B,missense_variant,p.Lys717Asn,ENST00000260753,NM_016195.2;KIF20B,missense_variant,p.Lys757Asn,ENST00000394289,;KIF20B,splice_region_variant,,ENST00000478929,;							MODERATE	2271/5463	K757N	KI20B_HUMAN			Transcript		possibly_damaging(0.788)	.	ENSP00000360793		CCDS60590.1			1	
BTBD16	0	LGGM	GRCh37	10	124091996	124091996	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	32	3	.	.	ENST00000260723.4:c.1132C>A	p.Gln378Lys	p.Q378K	ENST00000260723	NM_144587.2	378	Cag/Aag	0	1	1	UPI00003CEFB9	0	NA	ENST00000260723		ENSG00000138152	26340		35	1.95		HGNC	p.Q379K		BTBD16		SNV							ENST00000368994	protein_coding	getma.org/?cm=var&var=hg19,10,124091996,C,A&fts=all		hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF13		Q/K		A	medium	1383/1849		getma.org/?cm=msa&ty=f&p=BTBDG_HUMAN&rb=201&re=400&var=Q378K	deleterious(0)				YES	BTBD16,missense_variant,p.Gln379Lys,ENST00000368994,;BTBD16,missense_variant,p.Gln378Lys,ENST00000260723,NM_144587.2;BTBD16,non_coding_transcript_exon_variant,,ENST00000495370,;							MODERATE	1132/1521	Q378K	BTBDG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260723		CCDS31301.1			1	
GTSE1	0	LGGM	GRCh37	22	46708054	46708054	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	40	3	.	.	ENST00000454366.1:c.779C>A	p.Pro260Gln	p.P260Q	ENST00000454366	NM_016426.6	260	cCa/cAa	0	1	1	UPI000021D19B	0	NA	ENST00000454366		ENSG00000075218	13698		43	1.095		HGNC	p.P260Q		GTSE1		SNV							ENST00000454366	protein_coding	getma.org/?cm=var&var=hg19,22,46708054,C,A&fts=all		hmmpanther:PTHR21584:SF8,hmmpanther:PTHR21584		P/Q		A	low	991/3112		getma.org/?cm=msa&ty=f&p=GTSE1_HUMAN&rb=201&re=400&var=P241Q	deleterious(0)				YES	GTSE1,missense_variant,p.Pro260Gln,ENST00000454366,NM_016426.6;GTSE1,upstream_gene_variant,,ENST00000466510,;GTSE1,upstream_gene_variant,,ENST00000479645,;							MODERATE	779/2220	P241Q	GTSE1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000415430		CCDS14074.2			1	
ABCA1	0	LGGM	GRCh37	9	107560725	107560725	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	43	3	.	.	ENST00000374736.3:c.5098C>A	p.Leu1700Ile	p.L1700I	ENST00000374736	NM_005502.3	1700	Ctc/Atc	0	1	1	UPI000013E441	0	NA	ENST00000374736		ENSG00000165029	29		46	1.92		HGNC	p.L1700I		ABCA1		SNV			1				ENST00000374736	protein_coding	getma.org/?cm=var&var=hg19,9,107560725,G,T&fts=all		hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		L/I		T	medium	5493/10494		getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1344&re=1869&var=L1700I	tolerated(0.06)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Leu1700Ile,ENST00000374736,NM_005502.3;							MODERATE	5098/6786	L1700I	ABCA1_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000363868		CCDS6762.1			1	
DNAJC13	0	LGGM	GRCh37	3	132169675	132169675	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	42	3	.	.	ENST00000260818.6:c.521G>T	p.Gly174Val	p.G174V	ENST00000260818	NM_015268.3	174	gGa/gTa	0	1	1	UPI000022C1FD	0	NA	ENST00000260818		ENSG00000138246	30343		45	1.725		HGNC	p.G174V		DNAJC13		SNV			1				ENST00000260818	protein_coding	getma.org/?cm=var&var=hg19,3,132169675,G,T&fts=all				G/V		T	low	769/7730		getma.org/?cm=msa&ty=f&p=DJC13_HUMAN&rb=1&re=200&var=G174V	deleterious(0.05)				YES	DNAJC13,missense_variant,p.Gly174Val,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;							MODERATE	521/6732	G174V	DJC13_HUMAN			Transcript		benign(0.168)	.	ENSP00000260818		CCDS33857.1			1	
BAZ1A	0	LGGM	GRCh37	14	35262079	35262079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	42	3	.	.	ENST00000360310.1:c.1412G>T	p.Cys471Phe	p.C471F	ENST00000360310	NM_013448.2	471	tGt/tTt	0	1	1	UPI00001584D3	0	NA	ENST00000360310		ENSG00000198604	960		45	1.61		HGNC	p.C471F		BAZ1A		SNV							ENST00000360310	protein_coding	getma.org/?cm=var&var=hg19,14,35262079,C,A&fts=all		Pfam_domain:PF02791,PROSITE_profiles:PS50827,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145,SMART_domains:SM00571		C/F		A	low	1980/6010		getma.org/?cm=msa&ty=f&p=BAZ1A_HUMAN&rb=422&re=487&var=C471F	tolerated(0.1)	D3DS96_HUMAN			YES	BAZ1A,missense_variant,p.Cys471Phe,ENST00000360310,NM_013448.2;BAZ1A,missense_variant,p.Cys471Phe,ENST00000358716,NM_182648.1;BAZ1A,missense_variant,p.Cys471Phe,ENST00000382422,;							MODERATE	1412/4671	C471F	BAZ1A_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000353458		CCDS9651.1			1	
KLF10	0	LGGM	GRCh37	8	103663563	103663563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	36	3	.	.	ENST00000285407.6:c.997G>T	p.Val333Leu	p.V333L	ENST00000285407	NM_005655.3	333	Gtg/Ttg	0	1	1	UPI000012DED8	0	NA	ENST00000285407		ENSG00000155090	11810		39	1.23		HGNC	p.V322L		KLF10		SNV							ENST00000395884	protein_coding	getma.org/?cm=var&var=hg19,8,103663563,C,A&fts=all		hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF21,Low_complexity_(Seg):seg		V/L		A	low	1298/3097		getma.org/?cm=msa&ty=f&p=KLF10_HUMAN&rb=13&re=353&var=V333L	tolerated(0.26)				YES	KLF10,missense_variant,p.Val322Leu,ENST00000395884,NM_001032282.3;KLF10,missense_variant,p.Val333Leu,ENST00000285407,NM_005655.3;							MODERATE	997/1443	V333L	KLF10_HUMAN			Transcript		benign(0.002)	.	ENSP00000285407		CCDS6294.1			1	
DNAH12	0	LGGM	GRCh37	3	57386254	57386254	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	34	3	.	.	ENST00000351747.2:c.6930-1G>T		p.X2310_splice	ENST00000351747	NM_178504.4			0	1	1	UPI00017AA3A8	0		ENST00000351747		ENSG00000174844	2943		37			HGNC	p.S1I		DNAH12		SNV							ENST00000466540	protein_coding							A		-/9542				O15436_HUMAN				DNAH12,splice_acceptor_variant,,ENST00000351747,NM_178504.4;DNAH12,start_lost,p.Ser1?,ENST00000466540,;DNAH12,5_prime_UTR_variant,,ENST00000344804,;DNAH12,downstream_gene_variant,,ENST00000495027,;DNAH12,upstream_gene_variant,,ENST00000462199,;							HIGH	6930/9279		DYH12_HUMAN			Transcript			.	ENSP00000295937					1	
MMACHC	0	LGGM	GRCh37	1	45973923	45973923	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	36	3	.	.	ENST00000401061.4:c.316G>T	p.Glu106Ter	p.E106*	ENST00000401061	NM_015506.2	106	Gag/Tag	0	1	1	UPI00001C1D6D	0	NA	ENST00000401061		ENSG00000132763	24525		39	0		HGNC	p.E106X		MMACHC		SNV			1				ENST00000401061	protein_coding	getma.org/?cm=var&var=hg19,1,45973923,G,T&fts=all		hmmpanther:PTHR31457		E/*		T	NA	596/2981		NA					YES	MMACHC,stop_gained,p.Glu106Ter,ENST00000401061,NM_015506.2;PRDX1,downstream_gene_variant,,ENST00000262746,NM_181696.2,NM_002574.3;PRDX1,downstream_gene_variant,,ENST00000319248,NM_181697.2;PRDX1,downstream_gene_variant,,ENST00000372079,;MMACHC,upstream_gene_variant,,ENST00000477188,;							HIGH	316/849	E106*	MMAC_HUMAN			Transcript			.	ENSP00000383840		CCDS41324.1			1	
STH	0	LGGM	GRCh37	17	44076669	44076669	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	28	3	.	.	ENST00000537309.1:c.24C>A	p.Val8=	p.V8=	ENST00000537309	NM_001007532.2	8	gtC/gtA	0	1	1	UPI00000744B9	0		ENST00000537309		ENSG00000256762	18839		31			HGNC	p.V8V		STH		SNV							ENST00000537309	protein_coding					V		A		54/445							YES	STH,synonymous_variant,p.=,ENST00000537309,NM_001007532.2;MAPT,intron_variant,,ENST00000344290,NM_001123066.3;MAPT,intron_variant,,ENST00000576518,;MAPT,intron_variant,,ENST00000262410,NM_016835.4;MAPT,intron_variant,,ENST00000351559,NM_005910.5;MAPT,intron_variant,,ENST00000340799,NM_001123067.3,NM_016834.4;MAPT,intron_variant,,ENST00000535772,NM_001203252.1,NM_001203251.1;MAPT,intron_variant,,ENST00000347967,;MAPT,intron_variant,,ENST00000446361,;MAPT,intron_variant,,ENST00000415613,;MAPT,intron_variant,,ENST00000571987,;MAPT,intron_variant,,ENST00000574436,;MAPT,intron_variant,,ENST00000420682,;MAPT,intron_variant,,ENST00000431008,;MAPT,intron_variant,,ENST00000334239,NM_016841.4;MAPT,intron_variant,,ENST00000570299,;							LOW	24/387		STH_HUMAN			Transcript			.	ENSP00000443168		CCDS54136.1			1	
GOLGA6L10	0	LGGM	GRCh37	15	82635216	82635216	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	12	3	.	.	ENST00000439287.4:c.1354G>A	p.Gly452Arg	p.G452R	ENST00000439287	NM_001164465.2	452	Gga/Aga	0	1	1	UPI000041A871	0	NA	ENST00000439287		ENSG00000205281	37228		15	0		HGNC	p.G452R		GOLGA6L10		SNV							ENST00000439287	protein_coding	getma.org/?cm=var&var=hg19,15,82635216,C,T&fts=all		hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF8,Low_complexity_(Seg):seg		G/R		T	neutral	1454/1540		getma.org/?cm=msa&ty=f&p=GG6LA_HUMAN&rb=361&re=478&var=G452R	deleterious_low_confidence(0)				YES	GOLGA6L10,missense_variant,p.Gly452Arg,ENST00000439287,NM_001164465.2;GOLGA6L10,downstream_gene_variant,,ENST00000559712,;							MODERATE	1354/1440	G452R	GG6LA_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000388606		CCDS45325.1			1	
SLC19A2	0	LGGM	GRCh37	1	169439421	169439421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	24	3	.	.	ENST00000236137.5:c.811C>A	p.Pro271Thr	p.P271T	ENST00000236137	NM_006996.2	271	Ccc/Acc	0	1	1	UPI0000036177	0	NA	ENST00000236137		ENSG00000117479	10938		27	0.75		HGNC	p.P271T		SLC19A2		SNV			1				ENST00000236137	protein_coding	getma.org/?cm=var&var=hg19,1,169439421,G,T&fts=all		Pfam_domain:PF01770,PIRSF_domain:PIRSF028739,PIRSF_domain:PIRSF500794,hmmpanther:PTHR10686,hmmpanther:PTHR10686:SF13,Low_complexity_(Seg):seg		P/T		T	neutral	1048/3671		getma.org/?cm=msa&ty=f&p=S19A2_HUMAN&rb=28&re=458&var=P271T	tolerated(0.29)				YES	SLC19A2,missense_variant,p.Pro271Thr,ENST00000236137,NM_006996.2;SLC19A2,missense_variant,p.Pro70Thr,ENST00000367804,;RP1-206D15.5,downstream_gene_variant,,ENST00000452472,;							MODERATE	811/1494	P271T	S19A2_HUMAN			Transcript		benign(0.063)	.	ENSP00000236137		CCDS1280.1			1	
ZNF507	0	LGGM	GRCh37	19	32873929	32873929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	3	.	.	ENST00000311921.4:c.2802G>T	p.Glu934Asp	p.E934D	ENST00000311921	NM_014910.4	934	gaG/gaT	0	1	1	UPI0000202010	0	NA	ENST00000311921		ENSG00000168813	23783		40	1.79		HGNC	p.E934D		ZNF507		SNV							ENST00000311921	protein_coding	getma.org/?cm=var&var=hg19,19,32873929,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402		E/D		T	low	2994/7638		getma.org/?cm=msa&ty=f&p=ZN507_HUMAN&rb=904&re=953&var=E934D	deleterious(0)				YES	ZNF507,missense_variant,p.Glu934Asp,ENST00000311921,NM_014910.4,NM_001136156.1;ZNF507,missense_variant,p.Glu938Asp,ENST00000544431,;ZNF507,missense_variant,p.Glu934Asp,ENST00000355898,;ZNF507,non_coding_transcript_exon_variant,,ENST00000586664,;							MODERATE	2802/2862	E934D	ZN507_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000312277		CCDS32985.1			1	
OTOG	0	LGGM	GRCh37	11	17618542	17618542	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	7	3	.	.	ENST00000399391.2:c.3706C>T	p.Pro1236Ser	p.P1236S	ENST00000399391	NM_001277269.1	1236	Ccc/Tcc	0	1	1	UPI0001662628	0	NA	ENST00000399391		ENSG00000188162	8516		10	1.655		HGNC	p.P251S		OTOG		SNV			1				ENST00000342528	protein_coding	getma.org/?cm=var&var=hg19,11,17618542,C,T&fts=all		hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832,Superfamily_domains:0050434		P/S		T	low	3706/8778		getma.org/?cm=msa&ty=f&p=OTOG_HUMAN&rb=1166&re=1240&var=P1236S		H9KVB3_HUMAN			YES	OTOG,missense_variant,p.Pro1163Ser,ENST00000399397,;OTOG,missense_variant,p.Pro1236Ser,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Pro251Ser,ENST00000342528,;							MODERATE	3706/8778	P1236S	OTOG_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000382323		CCDS59225.1			1	
HSPA6	0	LGGM	GRCh37	1	161494751	161494751	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	38	3	.	.	ENST00000309758.4:c.303C>A	p.Gly101=	p.G101=	ENST00000309758	NM_002155.3	101	ggC/ggA	0	1	1	UPI0000074238	0		ENST00000309758		ENSG00000173110	5239		41			HGNC	p.G101G		HSPA6		SNV							ENST00000309758	protein_coding			Gene3D:3.30.30.30,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF168,Superfamily_domains:SSF53067		G		A		716/2646							YES	HSPA6,synonymous_variant,p.=,ENST00000309758,NM_002155.3;FCGR2A,downstream_gene_variant,,ENST00000459885,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR2A,downstream_gene_variant,,ENST00000491841,;FCGR2A,downstream_gene_variant,,ENST00000467525,;							LOW	303/1932		HSP76_HUMAN			Transcript			.	ENSP00000310219		CCDS1231.1			1	
THOC5	0	LGGM	GRCh37	22	29908111	29908111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	26	3	.	.	ENST00000490103.1:c.1696G>T	p.Ala566Ser	p.A566S	ENST00000490103	NM_003678.4	566	Gct/Tct	0	1		UPI000013FD77	0	NA	ENST00000397871		ENSG00000100296	19074		29	1.935		HGNC	p.A566S		THOC5		SNV							ENST00000397871	protein_coding	getma.org/?cm=var&var=hg19,22,29908111,C,A&fts=all		hmmpanther:PTHR13375,hmmpanther:PTHR13375:SF3		A/S		A	medium	1915/2560		getma.org/?cm=msa&ty=f&p=THOC5_HUMAN&rb=454&re=653&var=A566S	tolerated(0.25)	C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN				THOC5,missense_variant,p.Ala566Ser,ENST00000490103,NM_003678.4;THOC5,missense_variant,p.Ala566Ser,ENST00000397872,NM_001002878.1;THOC5,missense_variant,p.Ala566Ser,ENST00000397871,NM_001002879.1;THOC5,missense_variant,p.Ala566Ser,ENST00000397873,NM_001002877.1;CTA-256D12.11,downstream_gene_variant,,ENST00000411969,;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,upstream_gene_variant,,ENST00000472164,;							MODERATE	1696/2052	A566S	THOC5_HUMAN			Transcript		benign(0.002)	.	ENSP00000380969		CCDS13859.1			1	
KIAA1024	0	LGGM	GRCh37	15	79760530	79760530	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	9	3	.	.	ENST00000305428.3:c.2555C>T	p.Thr852Met	p.T852M	ENST00000305428	NM_015206.2	852	aCg/aTg	0	1	1	UPI00001B2F56	0	NA	ENST00000305428		ENSG00000169330	29172	0.00158	12	0.69		HGNC	p.T852M	rs140151474,COSM84303	KIAA1024	0.00325	SNV	T:0.0018			0.00236		0,1	ENST00000305428	protein_coding	getma.org/?cm=var&var=hg19,15,79760530,C,T&fts=all	T:0.0023	hmmpanther:PTHR31530,hmmpanther:PTHR31530:SF2,Pfam_domain:PF06789		T/M	T:0.005	T	neutral	2630/6732	0.00544	getma.org/?cm=msa&ty=f&p=K1024_HUMAN&rb=758&re=916&var=T852M	deleterious(0.01)		T:0.0043	T:0	YES	KIAA1024,missense_variant,p.Thr852Met,ENST00000305428,NM_015206.2;KIAA1024,splice_region_variant,,ENST00000559272,;	0.000123	T:0.0032			0,1		MODERATE	2555/2751	T852M	K1024_HUMAN	0.000319	T:0.008	Transcript		possibly_damaging(0.718)	common_variant	ENSP00000307461	0.00357	CCDS32306.1	0.0035	T:0.002	1	
STON1	0	LGGM	GRCh37	2	48808364	48808364	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	42	4	.	.	ENST00000309835.3:c.592C>A	p.Leu198Ile	p.L198I	ENST00000309835		198	Ctt/Att	0	1		UPI000006E627	0	NA	ENST00000404752		ENSG00000243244	17003		46	0.55		HGNC	p.L198I		STON1		SNV							ENST00000394751	protein_coding	getma.org/?cm=var&var=hg19,2,48808364,C,A&fts=all		PIRSF_domain:PIRSF037099,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18		L/I		A	neutral	685/5511		getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=1&re=200&var=L198I	tolerated(0.43)					STON1,missense_variant,p.Leu198Ile,ENST00000309835,;STON1,missense_variant,p.Leu198Ile,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Leu198Ile,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;							MODERATE	592/2208	L198I	STON1_HUMAN			Transcript		benign(0.017)	.	ENSP00000385273		CCDS1841.1			1	
VPS13A	0	LGGM	GRCh37	9	79867208	79867208	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	69	4	.	.	ENST00000360280.3:c.2228C>A	p.Pro743His	p.P743H	ENST00000360280	NM_033305.2	743	cCc/cAc	0	1	1	UPI0000210B7A	0	NA	ENST00000360280		ENSG00000197969	1908		73	2.845		HGNC	p.P743H		VPS13A		SNV			1				ENST00000360280	protein_coding	getma.org/?cm=var&var=hg19,9,79867208,C,A&fts=all		hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22		P/H		A	medium	2488/15320		getma.org/?cm=msa&ty=f&p=VP13A_HUMAN&rb=572&re=771&var=P743H	deleterious(0)				YES	VPS13A,missense_variant,p.Pro743His,ENST00000360280,NM_033305.2;VPS13A,missense_variant,p.Pro743His,ENST00000376636,NM_001018037.1;VPS13A,missense_variant,p.Pro743His,ENST00000376634,NM_001018038.2;VPS13A,missense_variant,p.Pro743His,ENST00000357409,NM_015186.3;							MODERATE	2228/9525	P743H	VP13A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353422		CCDS6655.1			1	
DNHD1	0	LGGM	GRCh37	11	6592256	6592256	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	8	4	.	.	ENST00000254579.6:c.13514G>T	p.Cys4505Phe	p.C4505F	ENST00000254579	NM_144666.2	4505	tGc/tTc	0	1	1	UPI0001929529	0	NA	ENST00000254579		ENSG00000179532	26532		12	1.87		HGNC	p.C4505F		DNHD1		SNV							ENST00000254579	protein_coding	getma.org/?cm=var&var=hg19,11,6592256,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF03028		C/F		T	low	14078/14862		getma.org/?cm=msa&ty=f&p=DNHD1_HUMAN&rb=3972&re=4749&var=C4505F					YES	DNHD1,missense_variant,p.Cys4505Phe,ENST00000254579,NM_144666.2;DNHD1,missense_variant,p.Cys4505Phe,ENST00000527990,;DNHD1,intron_variant,,ENST00000527143,;DNHD1,downstream_gene_variant,,ENST00000525080,;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,;							MODERATE	13514/14262	C4505F	DNHD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254579		CCDS44532.1			1	
CCDC22	0	LGGM	GRCh37	X	49093720	49093720	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	1	4	.	.	ENST00000376227.3:c.218A>T	p.Gln73Leu	p.Q73L	ENST00000376227	NM_014008.3	73	cAg/cTg	0	1	1	UPI000006FFC7	0	NA	ENST00000376227		ENSG00000101997	28909		5	2.125		HGNC	p.Q73L		CCDC22		SNV			1				ENST00000376227	protein_coding	getma.org/?cm=var&var=hg19,X,49093720,A,T&fts=all		hmmpanther:PTHR15668,Pfam_domain:PF05667		Q/L		T	medium	388/2319		getma.org/?cm=msa&ty=f&p=CCD22_HUMAN&rb=1&re=598&var=Q73L	deleterious(0)				YES	CCDC22,missense_variant,p.Gln73Leu,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,;							MODERATE	218/1884	Q73L	CCD22_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000365401		CCDS14322.1			1	
IGKV1D-13	0	LGGM	GRCh37	2	90192966	90192966	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	83	4	.	.	ENST00000390275.2:c.19G>T	p.Ala7Ser	p.A7S	ENST00000390275		7	Gct/Tct	0	1	1	UPI0000115E40	0		ENST00000390275		ENSG00000211630	5747		87			HGNC	p.A7S		IGKV1D-13		SNV							ENST00000390275	IG_V_gene			hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Cleavage_site_(Signalp):SignalP-noTM		A/S		T		199/531			tolerated(0.19)				YES	IGKV1D-13,missense_variant,p.Ala7Ser,ENST00000390275,;							MODERATE	19/351					Transcript		benign(0.02)	.	ENSP00000374810					1	
MTHFR	0	LGGM	GRCh37	1	11855201	11855201	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	6	4	.	.	ENST00000376592.1:c.985A>T	p.Thr329Ser	p.T329S	ENST00000376592		329	Acc/Tcc	0	1		UPI0000141098	0	getma.org/pdb.php?prot=MTHR_HUMAN&from=48&to=337&var=T329S	ENST00000376590		ENSG00000177000	7436		10	2		HGNC	p.T329S		MTHFR		SNV			1				ENST00000376592	protein_coding	getma.org/?cm=var&var=hg19,1,11855201,T,A&fts=all		Gene3D:3.20.20.220,Pfam_domain:PF02219,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF31,Superfamily_domains:SSF51730,TIGRFAM_domain:TIGR00677		T/S		A	medium	1169/6232		getma.org/?cm=msa&ty=f&p=MTHR_HUMAN&rb=48&re=337&var=T329S	tolerated(0.13)	Q9NY63_HUMAN,Q8IU67_HUMAN,Q5SNW5_HUMAN,L7P8G6_HUMAN				MTHFR,missense_variant,p.Thr329Ser,ENST00000376592,;MTHFR,missense_variant,p.Thr370Ser,ENST00000376583,;MTHFR,missense_variant,p.Thr329Ser,ENST00000376590,NM_005957.4;MTHFR,missense_variant,p.Thr370Ser,ENST00000376585,;							MODERATE	985/1971	T329S	MTHR_HUMAN			Transcript		benign(0.34)	.	ENSP00000365775		CCDS137.1			1	
SHOC2	0	LGGM	GRCh37	10	112724694	112724694	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	4	.	.	ENST00000369452.4:c.578C>T	p.Ser193Phe	p.S193F	ENST00000369452	NM_007373.3	193	tCt/tTt	0	1	1	UPI0000135954	0	getma.org/pdb.php?prot=SHOC2_HUMAN&from=146&to=204&var=S193F	ENST00000369452		ENSG00000108061	15454		39	2.515		HGNC	p.S29F		SHOC2		SNV			1				ENST00000451838	protein_coding	getma.org/?cm=var&var=hg19,10,112724694,C,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF437,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058		S/F		T	medium	923/3943		getma.org/?cm=msa&ty=f&p=SHOC2_HUMAN&rb=146&re=204&var=S193F	deleterious(0)				YES	SHOC2,missense_variant,p.Ser193Phe,ENST00000369452,NM_007373.3;SHOC2,missense_variant,p.Ser193Phe,ENST00000265277,;SHOC2,missense_variant,p.Ser29Phe,ENST00000451838,NM_001269039.1;SHOC2,intron_variant,,ENST00000489390,;SHOC2,downstream_gene_variant,,ENST00000489783,;SHOC2,downstream_gene_variant,,ENST00000480155,;SHOC2,upstream_gene_variant,,ENST00000497305,;							MODERATE	578/1749	S193F	SHOC2_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000358464		CCDS7568.1			1	
ADAMTSL4	0	LGGM	GRCh37	1	150528730	150528730	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	84	4	.	.	ENST00000271643.4:c.1464G>T	p.Ser488=	p.S488=	ENST00000271643	NM_019032.4	488	tcG/tcT	0	1	1	UPI00001E0572	0		ENST00000271643		ENSG00000143382	19706		88			HGNC	p.S488S		ADAMTSL4		SNV			1				ENST00000369038	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF05986		S		T		1700/4197				Q9UFG7_HUMAN,A8KAH2_HUMAN			YES	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;AL356356.1,downstream_gene_variant,,ENST00000538795,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;							LOW	1464/3225		ATL4_HUMAN			Transcript			.	ENSP00000271643		CCDS955.1			1	
ALS2	0	LGGM	GRCh37	2	202589040	202589040	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	55	4	.	.	ENST00000264276.6:c.3490G>T	p.Gly1164Cys	p.G1164C	ENST00000264276	NM_020919.3	1164	Ggt/Tgt	0	1	1	UPI0000231C77	0	NA	ENST00000264276		ENSG00000003393	443		59	4.295		HGNC	p.G476C		ALS2		SNV			1				ENST00000457679	protein_coding	getma.org/?cm=var&var=hg19,2,202589040,C,A&fts=all		Superfamily_domains:0038399,SMART_domains:SM00698,Gene3D:1h3iA01,Pfam_domain:PF02493,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF12		G/C		A	high	3863/6644		getma.org/?cm=msa&ty=f&p=ALS2_HUMAN&rb=1131&re=1188&var=G1164C	deleterious(0)	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN			YES	ALS2,missense_variant,p.Gly1164Cys,ENST00000264276,NM_020919.3;ALS2,missense_variant,p.Gly476Cys,ENST00000457679,;ALS2,non_coding_transcript_exon_variant,,ENST00000489440,;ALS2,downstream_gene_variant,,ENST00000494017,;ALS2,downstream_gene_variant,,ENST00000483703,;ALS2,missense_variant,p.Gly485Cys,ENST00000439495,;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;							MODERATE	3490/4974	G1164C	ALS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264276		CCDS42800.1			1	
CD1C	0	LGGM	GRCh37	1	158262648	158262648	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	23	4	.	.	ENST00000368170.3:c.873C>A	p.Asp291Glu	p.D291E	ENST00000368170	NM_001765.2	291	gaC/gaA	0	1	1	UPI000013DF78	0	getma.org/pdb.php?prot=CD1C_HUMAN&from=211&to=292&var=D291E	ENST00000368170		ENSG00000158481	1636		27	3.18		HGNC	p.D291E		CD1C		SNV							ENST00000368170	protein_coding	getma.org/?cm=var&var=hg19,1,158262648,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF155,Superfamily_domains:SSF48726		D/E		A	medium	1152/1435		getma.org/?cm=msa&ty=f&p=CD1C_HUMAN&rb=211&re=292&var=D291E	deleterious(0.01)	B4DP91_HUMAN			YES	CD1C,missense_variant,p.Asp291Glu,ENST00000368170,NM_001765.2;CD1C,missense_variant,p.Asp226Glu,ENST00000443761,;							MODERATE	873/1002	D291E	CD1C_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000357152		CCDS1175.1			1	
OR8B2	0	LGGM	GRCh37	11	124253210	124253210	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	50	4	.	.	ENST00000375013.2:c.30T>A	p.Thr10=	p.T10=	ENST00000375013	NM_001005468.1	10	acT/acA	0	1	1	UPI000004B1E5	0		ENST00000375013		ENSG00000204293	8471		54			HGNC	p.T10T		OR8B2		SNV							ENST00000375013	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF216,Superfamily_domains:SSF81321		T		T		49/968							YES	OR8B2,synonymous_variant,p.=,ENST00000375013,NM_001005468.1;							LOW	30/942		OR8B2_HUMAN			Transcript			.	ENSP00000364152		CCDS31708.1			1	
WDR7	0	LGGM	GRCh37	18	54446701	54446701	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	75	4	.	.	ENST00000254442.3:c.2987C>A	p.Pro996Gln	p.P996Q	ENST00000254442	NM_015285.2	996	cCa/cAa	0	1	1	UPI000013CE33	0	NA	ENST00000254442		ENSG00000091157	13490		79	1.995		HGNC	p.P996Q		WDR7		SNV							ENST00000254442	protein_coding	getma.org/?cm=var&var=hg19,18,54446701,C,A&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48		P/Q		A	medium	3198/9074		getma.org/?cm=msa&ty=f&p=WDR7_HUMAN&rb=983&re=1344&var=P996Q	deleterious(0)	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN			YES	WDR7,missense_variant,p.Pro996Gln,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Pro963Gln,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000589935,;WDR7,non_coding_transcript_exon_variant,,ENST00000591524,;							MODERATE	2987/4473	P996Q	WDR7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000254442		CCDS11962.1			1	
IRAK1BP1	0	LGGM	GRCh37	6	79577505	79577505	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	11	4	.	.	ENST00000369940.2:c.212T>C	p.Val71Ala	p.V71A	ENST00000369940	NM_001010844.3	71	gTg/gCg	0	1	1	UPI000016049F	0	NA	ENST00000369940		ENSG00000146243	17368		15	0.69		HGNC	p.V71A		IRAK1BP1		SNV							ENST00000369940	protein_coding	getma.org/?cm=var&var=hg19,6,79577505,T,C&fts=all		Pfam_domain:PF04402,hmmpanther:PTHR18842,hmmpanther:PTHR18842:SF1		V/A		C	neutral	317/5656		getma.org/?cm=msa&ty=f&p=IKBP1_HUMAN&rb=53&re=250&var=V71A	tolerated(0.55)				YES	IRAK1BP1,missense_variant,p.Val71Ala,ENST00000369940,NM_001010844.3;IRAK1BP1,upstream_gene_variant,,ENST00000607739,;IRAK1BP1,missense_variant,p.Val61Ala,ENST00000606868,;							MODERATE	212/783	V71A	IKBP1_HUMAN			Transcript		benign(0.003)	.	ENSP00000358956		CCDS34488.1			1	
VEGFC	0	LGGM	GRCh37	4	177650757	177650757	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	15	4	.	.	ENST00000280193.2:c.291C>A	p.Ala97=	p.A97=	ENST00000280193	NM_005429.3	97	gcC/gcA	0	1	1	UPI000020B749	0		ENST00000280193		ENSG00000150630	12682		19			HGNC	p.A97A		VEGFC		SNV			1				ENST00000280193	protein_coding			hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3		A		T		707/2067							YES	VEGFC,synonymous_variant,p.=,ENST00000280193,NM_005429.3;VEGFC,upstream_gene_variant,,ENST00000507638,;							LOW	291/1263		VEGFC_HUMAN			Transcript			.	ENSP00000280193		CCDS43285.1			1	
CD22	0	LGGM	GRCh37	19	35837090	35837090	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	53	4	.	.	ENST00000085219.5:c.2364G>T	p.Pro788=	p.P788=	ENST00000085219	NM_001771.3	788	ccG/ccT	0	1	1	UPI000012733D	0		ENST00000085219		ENSG00000012124	1643		57			HGNC	p.G749X		CD22		SNV							ENST00000544992	protein_coding			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF39		P		T		2430/3268				Q0EAF5_HUMAN,Q9UQB2_HUMAN,Q9UQB1_HUMAN,M0R3H1_HUMAN,M0R2M0_HUMAN,M0R1M2_HUMAN,M0QYP4_HUMAN			YES	CD22,stop_gained,p.Gly749Ter,ENST00000544992,;CD22,synonymous_variant,p.=,ENST00000085219,NM_001771.3;CD22,synonymous_variant,p.=,ENST00000270311,NM_001185100.1;CD22,synonymous_variant,p.=,ENST00000536635,NM_001185099.1;CD22,synonymous_variant,p.=,ENST00000341773,NM_001185101.1;CD22,synonymous_variant,p.=,ENST00000419549,NM_001278417.1;CD22,synonymous_variant,p.=,ENST00000594250,;MIR5196,downstream_gene_variant,,ENST00000578146,;CD22,downstream_gene_variant,,ENST00000598815,;CD22,3_prime_UTR_variant,,ENST00000601769,;CD22,downstream_gene_variant,,ENST00000600655,;CD22,downstream_gene_variant,,ENST00000594125,;CD22,downstream_gene_variant,,ENST00000602123,;CD22,downstream_gene_variant,,ENST00000593704,;							LOW	2364/2544		CD22_HUMAN			Transcript			.	ENSP00000085219		CCDS12457.1			1	
CEP170B	0	LGGM	GRCh37	14	105353722	105353722	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	6	4	.	.	ENST00000414716.3:c.3146G>T	p.Gly1049Val	p.G1049V	ENST00000414716	NM_001112726.2	1049	gGc/gTc	0	1	1	UPI00001FDCF7	0	NA	ENST00000414716		ENSG00000099814	20362		10	1.78		HGNC	p.G979V		CEP170B		SNV							ENST00000418279	protein_coding	getma.org/?cm=var&var=hg19,14,105353722,G,T&fts=all		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18,Pfam_domain:PF15308		G/V		T	low	3374/6705		getma.org/?cm=msa&ty=f&p=K0284_HUMAN&rb=891&re=1090&var=G1049V	deleterious(0.02)	E9PFC1_HUMAN			YES	CEP170B,missense_variant,p.Gly1050Val,ENST00000453495,;CEP170B,missense_variant,p.Gly1049Val,ENST00000414716,NM_001112726.2;CEP170B,missense_variant,p.Gly979Val,ENST00000556508,NM_015005.2;CEP170B,missense_variant,p.Gly979Val,ENST00000418279,;							MODERATE	3146/4665	G1049V	C170B_HUMAN			Transcript		benign(0.043)	.	ENSP00000404151		CCDS45175.1			1	
UNC45A	0	LGGM	GRCh37	15	91493845	91493845	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	12	4	.	.	ENST00000418476.2:c.2303G>T	p.Arg768Leu	p.R768L	ENST00000418476	NM_018671.3	768	cGg/cTg	0	1	1	UPI000000D953	0	getma.org/pdb.php?prot=UN45A_HUMAN&from=706&to=905&var=R768L	ENST00000418476		ENSG00000140553	30594		16	3.36		HGNC	p.R753L		UNC45A		SNV							ENST00000394275	protein_coding	getma.org/?cm=var&var=hg19,15,91493845,G,T&fts=all		hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF275,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		R/L		T	medium	2343/3252		getma.org/?cm=msa&ty=f&p=UN45A_HUMAN&rb=706&re=905&var=R768L	deleterious(0.01)				YES	UNC45A,missense_variant,p.Arg753Leu,ENST00000394275,NM_001039675.1;UNC45A,missense_variant,p.Arg768Leu,ENST00000418476,NM_018671.3;RCCD1,upstream_gene_variant,,ENST00000394258,NM_033544.2,NM_001017919.1;RCCD1,upstream_gene_variant,,ENST00000555155,;AC068831.6,downstream_gene_variant,,ENST00000553321,;RCCD1,upstream_gene_variant,,ENST00000556774,;UNC45A,splice_region_variant,,ENST00000487875,;UNC45A,splice_region_variant,,ENST00000471780,;RCCD1,upstream_gene_variant,,ENST00000555737,;RCCD1,upstream_gene_variant,,ENST00000557266,;UNC45A,downstream_gene_variant,,ENST00000556704,;RCCD1,upstream_gene_variant,,ENST00000554302,;UNC45A,downstream_gene_variant,,ENST00000554481,;							MODERATE	2303/2835	R768L	UN45A_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000407487		CCDS10367.1			1	
FREM3	0	LGGM	GRCh37	4	144618453	144618453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	4	.	.	ENST00000329798.5:c.3376G>T	p.Gly1126Cys	p.G1126C	ENST00000329798	NM_001168235.1	1126	Ggt/Tgt	0	1	1	UPI0000D615C2	0	NA	ENST00000329798		ENSG00000183090	25172		22	3.035		HGNC	p.G1126C		FREM3		SNV							ENST00000329798	protein_coding	getma.org/?cm=var&var=hg19,4,144618453,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF30		G/C		A	medium	3376/6729		getma.org/?cm=msa&ty=f&p=FREM3_HUMAN&rb=1001&re=1200&var=G1126C	deleterious(0)				YES	FREM3,missense_variant,p.Gly1126Cys,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;							MODERATE	3376/6420	G1126C	FREM3_HUMAN			Transcript		possibly_damaging(0.758)	.	ENSP00000332886		CCDS54808.1			1	
SBF1	0	LGGM	GRCh37	22	50885621	50885621	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	1	4	.	.	ENST00000380817.3:c.5632T>G	p.Ser1878Ala	p.S1878A	ENST00000380817	NM_002972.2	1878	Tcg/Gcg	0	1	1	UPI00001D69ED	0	getma.org/pdb.php?prot=MTMR5_HUMAN&from=1762&to=1865&var=S1852A	ENST00000380817		ENSG00000100241	10542		5	0.695		HGNC	p.S1878A		SBF1		SNV			1				ENST00000380817	protein_coding	getma.org/?cm=var&var=hg19,22,50885621,A,C&fts=all		PROSITE_profiles:PS50003,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		S/A		C	neutral	5816/8008		getma.org/?cm=msa&ty=f&p=MTMR5_HUMAN&rb=1762&re=1865&var=S1852A	tolerated(0.46)	Q86TK5_HUMAN			YES	SBF1,missense_variant,p.Ser1878Ala,ENST00000380817,NM_002972.2;SBF1,missense_variant,p.Ser1853Ala,ENST00000348911,;SBF1,missense_variant,p.Ser1852Ala,ENST00000390679,;SBF1,missense_variant,p.Ser400Ala,ENST00000418590,;PPP6R2,downstream_gene_variant,,ENST00000359139,NM_014678.4,NM_001242900.1,NM_001242899.1,NM_001242898.1;PPP6R2,downstream_gene_variant,,ENST00000216061,;PPP6R2,downstream_gene_variant,,ENST00000395741,;PPP6R2,downstream_gene_variant,,ENST00000395744,;PPP6R2,downstream_gene_variant,,ENST00000401672,;PPP6R2,downstream_gene_variant,,ENST00000427222,;SBF1,non_coding_transcript_exon_variant,,ENST00000470434,;SBF1,non_coding_transcript_exon_variant,,ENST00000473724,;PPP6R2,downstream_gene_variant,,ENST00000470046,;							MODERATE	5632/5682	S1852A	MTMR5_HUMAN			Transcript		benign(0.015)	.	ENSP00000370196		CCDS14091.2			1	
CAND2	0	LGGM	GRCh37	3	12858246	12858246	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	39	4	.	.	ENST00000456430.2:c.1815G>A	p.Arg605=	p.R605=	ENST00000456430	NM_001162499.1	605	cgG/cgA	0	1	1	UPI00005795FA	0		ENST00000456430		ENSG00000144712	30689		43			HGNC	p.R605R		CAND2		SNV							ENST00000456430	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		R		A		1856/4573							YES	CAND2,synonymous_variant,p.=,ENST00000456430,NM_001162499.1;CAND2,synonymous_variant,p.=,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;							LOW	1815/3711		CAND2_HUMAN			Transcript			.	ENSP00000387641		CCDS54554.1			1	
THBS3	0	LGGM	GRCh37	1	155175089	155175089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	41	4	.	.	ENST00000368378.3:c.305G>T	p.Arg102Leu	p.R102L	ENST00000368378	NM_007112.4	102	cGg/cTg	0	1	1	UPI000013776E	0	NA	ENST00000368378		ENSG00000169231	11787		45	1.67		HGNC	p.R102L		THBS3		SNV							ENST00000368378	protein_coding	getma.org/?cm=var&var=hg19,1,155175089,C,A&fts=all		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,SMART_domains:SM00210,Superfamily_domains:SSF49899		R/L		A	low	326/3145		getma.org/?cm=msa&ty=f&p=TSP3_HUMAN&rb=23&re=193&var=R102L	deleterious(0)	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN			YES	THBS3,missense_variant,p.Arg102Leu,ENST00000368378,NM_007112.4,NM_001252607.1;THBS3,5_prime_UTR_variant,,ENST00000541990,;THBS3,intron_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,;MTX1,upstream_gene_variant,,ENST00000368376,NM_002455.3;MTX1,upstream_gene_variant,,ENST00000316721,NM_198883.2;MTX1,upstream_gene_variant,,ENST00000609421,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000453136,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000430312,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000422665,;RP11-263K19.4,downstream_gene_variant,,ENST00000436772,;RP11-263K19.4,downstream_gene_variant,,ENST00000447623,;THBS3,non_coding_transcript_exon_variant,,ENST00000486260,;THBS3,upstream_gene_variant,,ENST00000460050,;THBS3,intron_variant,,ENST00000428962,;MTX1,upstream_gene_variant,,ENST00000481771,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000496332,;							MODERATE	305/2871	R102L	TSP3_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000357362		CCDS1099.1			1	
TTYH3	0	LGGM	GRCh37	7	2685514	2685514	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	12	5	.	.	ENST00000258796.7:c.124-973G>A		*42*	ENST00000258796	NM_025250.2			0	1	1	UPI000020E9F9	0		ENST00000258796		ENSG00000136295	22222		17			HGNC	p.R46R		TTYH3		SNV							ENST00000400376	protein_coding							A		-/4840							YES	TTYH3,synonymous_variant,p.=,ENST00000400376,;TTYH3,intron_variant,,ENST00000258796,NM_025250.2;TTYH3,intron_variant,,ENST00000407643,;TTYH3,upstream_gene_variant,,ENST00000403167,;TTYH3,upstream_gene_variant,,ENST00000477439,;							MODIFIER	-/1572		TTYH3_HUMAN			Transcript			.	ENSP00000258796		CCDS34588.1			1	
PCDHGA2	0	LGGM	GRCh37	5	140719936	140719936	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	63	5	.	.	ENST00000394576.2:c.1398C>A	p.Pro466=	p.P466=	ENST00000394576	NM_018915.2	466	ccC/ccA	0	1	1	UPI0000072E67	0		ENST00000394576		ENSG00000081853	8700		68			HGNC	p.P466P		PCDHGA2		SNV							ENST00000394576	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Superfamily_domains:SSF49313		P		A		1398/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	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,;							LOW	1398/2799		PCDG2_HUMAN			Transcript			.	ENSP00000378077		CCDS47289.1			1	
GRID2IP	0	LGGM	GRCh37	7	6542661	6542661	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	15	5	.	.	ENST00000457091.2:c.3041G>A	p.Arg1014Gln	p.R1014Q	ENST00000457091	NM_001145118.1	1014	cGg/cAg	0	1	1	UPI0001722D0B	0	getma.org/pdb.php?prot=GRD2I_HUMAN&from=820&to=1188&var=R1014Q	ENST00000457091		ENSG00000215045	18464		20	1.125		HGNC	p.R830Q	COSM1488633,COSM1488632	GRID2IP		SNV						1,1	ENST00000435185	protein_coding	getma.org/?cm=var&var=hg19,7,6542661,C,T&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		R/Q		T	low	3041/3636		getma.org/?cm=msa&ty=f&p=GRD2I_HUMAN&rb=820&re=1188&var=R1014Q	tolerated(0.12)				YES	GRID2IP,missense_variant,p.Arg1014Gln,ENST00000457091,NM_001145118.1;GRID2IP,missense_variant,p.Arg823Gln,ENST00000452113,;GRID2IP,missense_variant,p.Arg830Gln,ENST00000435185,;					1,1		MODERATE	3041/3636	R1014Q	GRD2I_HUMAN			Transcript		benign(0.092)	.	ENSP00000397351		CCDS47537.1			1	
OR14A16	0	LGGM	GRCh37	1	247978625	247978625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	63	5	.	.	ENST00000357627.1:c.407G>T	p.Arg136Met	p.R136M	ENST00000357627	NM_001001966.1	136	aGg/aTg	0	1	1	UPI0000041CE2	0	getma.org/pdb.php?prot=O14AG_HUMAN&from=1&to=137&var=R136M	ENST00000357627		ENSG00000196772	15022		68	2.855		HGNC	p.R136M		OR14A16		SNV							ENST00000357627	protein_coding	getma.org/?cm=var&var=hg19,1,247978625,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		R/M		A	medium	407/930		getma.org/?cm=msa&ty=f&p=O14AG_HUMAN&rb=1&re=137&var=R136M	tolerated(0.06)				YES	OR14A16,missense_variant,p.Arg136Met,ENST00000357627,NM_001001966.1;							MODERATE	407/930	R136M	O14AG_HUMAN			Transcript		benign(0.133)	.	ENSP00000350248		CCDS31097.1			1	
ARHGEF2	0	LGGM	GRCh37	1	155931617	155931617	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	42	5	.	.	ENST00000361247.4:c.1303C>G	p.Gln435Glu	p.Q435E	ENST00000361247	NM_001162384.1	435	Cag/Gag	0	1	1	UPI000045892C	0	NA	ENST00000361247		ENSG00000116584	682		47	-1.32		HGNC	p.Q435E		ARHGEF2		SNV							ENST00000361247	protein_coding	getma.org/?cm=var&var=hg19,1,155931617,G,C&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Gene3D:1.20.900.10,Superfamily_domains:SSF48065		Q/E		C	neutral	1403/4149		getma.org/?cm=msa&ty=f&p=ARHG2_HUMAN&rb=432&re=472&var=Q435E	tolerated(1)				YES	ARHGEF2,missense_variant,p.Gln480Glu,ENST00000462460,;ARHGEF2,missense_variant,p.Gln407Glu,ENST00000368316,;ARHGEF2,missense_variant,p.Gln435Glu,ENST00000361247,NM_001162384.1,NM_001162383.1;ARHGEF2,missense_variant,p.Gln407Glu,ENST00000313695,NM_004723.3;ARHGEF2,missense_variant,p.Gln436Glu,ENST00000368315,;ARHGEF2,missense_variant,p.Gln434Glu,ENST00000313667,;ARHGEF2,downstream_gene_variant,,ENST00000471589,;ARHGEF2,downstream_gene_variant,,ENST00000497907,;ARHGEF2,downstream_gene_variant,,ENST00000609707,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000474428,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000476273,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000470975,;ARHGEF2,downstream_gene_variant,,ENST00000608543,;ARHGEF2,downstream_gene_variant,,ENST00000470874,;							MODERATE	1303/2961	Q435E	ARHG2_HUMAN			Transcript		benign(0)	.	ENSP00000354837		CCDS53376.1			1	
HTR5A-AS1	0	LGGM	GRCh37	7	154862849	154862849	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	5	.	.	ENST00000543018.1:c.165T>A	p.Asp55Glu	p.D55E	ENST00000543018		55	gaT/gaA	0	1	1	UPI00019152D0	0		ENST00000543018		ENSG00000220575	48956		25			HGNC	p.D55E		HTR5A-AS1		SNV							ENST00000543018	protein_coding					D/E		T		419/1405			tolerated_low_confidence(0.61)	B7Z8E6_HUMAN			YES	HTR5A-AS1,missense_variant,p.Asp55Glu,ENST00000395731,;HTR5A-AS1,missense_variant,p.Asp55Glu,ENST00000543018,;HTR5A,synonymous_variant,p.=,ENST00000287907,NM_024012.3;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;							MODERATE	165/453					Transcript		possibly_damaging(0.621)	.	ENSP00000441588					1	
PIP4K2C	0	LGGM	GRCh37	12	57995128	57995128	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	70	5	.	.	ENST00000354947.5:c.1182T>C	p.His394=	p.H394=	ENST00000354947		394	caT/caC	0	1	1	UPI000003F553	0		ENST00000354947		ENSG00000166908	23786		75			HGNC	p.H394H		PIP4K2C		SNV							ENST00000540759	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:1bo1A02,Pfam_domain:PF01504,SMART_domains:SM00330,Superfamily_domains:SSF56104		H		C		1198/2924				F8VU68_HUMAN			YES	PIP4K2C,synonymous_variant,p.=,ENST00000354947,;PIP4K2C,synonymous_variant,p.=,ENST00000540759,NM_001146259.1,NM_001146258.1,NM_024779.4;PIP4K2C,synonymous_variant,p.=,ENST00000422156,NM_001146260.1;PIP4K2C,synonymous_variant,p.=,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,;							LOW	1182/1266		PI42C_HUMAN			Transcript			.	ENSP00000347032		CCDS8946.1			1	
STOML2	0	LGGM	GRCh37	9	35100676	35100676	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	45	5	.	.	ENST00000356493.5:c.852C>T	p.Ser284=	p.S284=	ENST00000356493	NM_013442.1	284	agC/agT	0	1	1	UPI000006E47E	0		ENST00000356493		ENSG00000165283	14559		50			HGNC	p.S239S	rs755675682	STOML2		SNV							ENST00000452248	protein_coding			hmmpanther:PTHR10264:SF27,hmmpanther:PTHR10264		S		A		915/1278	1.50E-05						YES	STOML2,synonymous_variant,p.=,ENST00000356493,NM_013442.1,NM_001287032.1;STOML2,synonymous_variant,p.=,ENST00000452248,NM_001287031.1;FAM214B,downstream_gene_variant,,ENST00000378561,;PIGO,upstream_gene_variant,,ENST00000378617,NM_032634.3;PIGO,upstream_gene_variant,,ENST00000341666,;FAM214B,downstream_gene_variant,,ENST00000603301,;FAM214B,downstream_gene_variant,,ENST00000378557,;FAM214B,downstream_gene_variant,,ENST00000322813,NM_025182.2;FAM214B,downstream_gene_variant,,ENST00000605244,;FAM214B,downstream_gene_variant,,ENST00000488109,;PIGO,upstream_gene_variant,,ENST00000298004,NM_001201484.1;FAM214B,downstream_gene_variant,,ENST00000378566,;PIGO,upstream_gene_variant,,ENST00000361778,NM_152850.3;FAM214B,downstream_gene_variant,,ENST00000378554,;RP11-182N22.8,downstream_gene_variant,,ENST00000431804,;PIGO,upstream_gene_variant,,ENST00000492770,;PIGO,upstream_gene_variant,,ENST00000472208,;STOML2,downstream_gene_variant,,ENST00000487490,;STOML2,3_prime_UTR_variant,,ENST00000488050,;PIGO,upstream_gene_variant,,ENST00000474436,;PIGO,upstream_gene_variant,,ENST00000465745,;							LOW	852/1071		STML2_HUMAN			Transcript			.	ENSP00000348886	8.24E-06	CCDS6577.1			1	
RGS22	0	LGGM	GRCh37	8	100990251	100990251	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	71	5	.	.	ENST00000360863.6:c.3413G>T	p.Arg1138Met	p.R1138M	ENST00000360863	NM_015668.3	1138	aGg/aTg	0	1	1	UPI0000E5AF25	0	NA	ENST00000360863		ENSG00000132554	24499		76	1.905		HGNC	p.R1138M		RGS22		SNV							ENST00000360863	protein_coding	getma.org/?cm=var&var=hg19,8,100990251,C,A&fts=all		SMART_domains:SM00315		R/M		A	medium	3608/4296		getma.org/?cm=msa&ty=f&p=RGS22_HUMAN&rb=1021&re=1142&var=R1138M	deleterious(0)	E5RHE4_HUMAN,E5RFV6_HUMAN			YES	RGS22,missense_variant,p.Arg1138Met,ENST00000360863,NM_015668.3;RGS22,missense_variant,p.Arg957Met,ENST00000523287,NM_001286693.1;RGS22,missense_variant,p.Arg1126Met,ENST00000523437,NM_001286692.1;RGS22,missense_variant,p.Arg10Met,ENST00000517843,;RGS22,non_coding_transcript_exon_variant,,ENST00000517769,;							MODERATE	3413/3795	R1138M	RGS22_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000354109		CCDS43758.1			1	
SYCP2	0	LGGM	GRCh37	20	58456490	58456490	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	3	6	.	.	ENST00000357552.3:c.2714+2T>A		p.X905_splice	ENST00000357552				0	1	1	UPI0000135683	0		ENST00000357552		ENSG00000196074	11490		9			HGNC	-		SYCP2		SNV							ENST00000371001	protein_coding							T		-/5567				A2A341_HUMAN			YES	SYCP2,splice_donor_variant,,ENST00000357552,;SYCP2,splice_donor_variant,,ENST00000371001,NM_014258.2;SYCP2,splice_donor_variant,,ENST00000446834,;SYCP2,splice_donor_variant,,ENST00000474749,;							HIGH	2714/4593		SYCP2_HUMAN			Transcript			.	ENSP00000350162		CCDS13482.1			1	
ATXN7L1	0	LGGM	GRCh37	7	105305520	105305520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	10	6	.	.	ENST00000419735.3:c.571A>G	p.Lys191Glu	p.K191E	ENST00000419735	NM_020725.1	191	Aaa/Gaa	0	1	1	UPI000162C85E	0	NA	ENST00000419735		ENSG00000146776	22210		16	0.55		HGNC	p.K67E		ATXN7L1		SNV							ENST00000472195	protein_coding	getma.org/?cm=var&var=hg19,7,105305520,T,C&fts=all		hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF1		K/E		C	neutral	617/5417		getma.org/?cm=msa&ty=f&p=AT7L1_HUMAN&rb=1&re=200&var=K191E	deleterious(0.02)	F8WDE7_HUMAN			YES	ATXN7L1,missense_variant,p.Lys191Glu,ENST00000419735,NM_020725.1;ATXN7L1,missense_variant,p.Lys67Glu,ENST00000477775,NM_138495.1;ATXN7L1,missense_variant,p.Lys67Glu,ENST00000472195,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000472910,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000485652,;ATXN7L1,missense_variant,p.Lys67Glu,ENST00000474433,;							MODERATE	571/2586	K191E	AT7L1_HUMAN			Transcript		possibly_damaging(0.817)	.	ENSP00000410759		CCDS47682.1			1	
PAX2	0	LGGM	GRCh37	10	102509609	102509609	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	3	6	.	.	ENST00000428433.1:c.150G>A	p.Arg50=	p.R50=	ENST00000428433	NM_003987.3	50	cgG/cgA	0	1	1	UPI00001AEA24	0		ENST00000428433		ENSG00000075891	8616		9			HGNC	p.R49R		PAX2		SNV			1				ENST00000556085	protein_coding			Gene3D:1.10.10.10,Pfam_domain:PF00292,Prints_domain:PR00027,PROSITE_patterns:PS00034,PROSITE_profiles:PS51057,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172,SMART_domains:SM00351,Superfamily_domains:SSF46689		R		A		700/4126				Q5SZP1_HUMAN			YES	PAX2,synonymous_variant,p.=,ENST00000370296,;PAX2,synonymous_variant,p.=,ENST00000428433,NM_003987.3,NM_003990.3;PAX2,synonymous_variant,p.=,ENST00000355243,NM_000278.3,NM_003989.3;PAX2,synonymous_variant,p.=,ENST00000361791,NM_003988.3;PAX2,synonymous_variant,p.=,ENST00000554172,;PAX2,synonymous_variant,p.=,ENST00000556085,;PAX2,synonymous_variant,p.=,ENST00000427256,;PAX2,intron_variant,,ENST00000553492,;PAX2,non_coding_transcript_exon_variant,,ENST00000483202,;PAX2,intron_variant,,ENST00000554363,;							LOW	150/1254		PAX2_HUMAN			Transcript			.	ENSP00000396259		CCDS53569.1			1	
OR4F21	0	LGGM	GRCh37	8	116848	116848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	6	.	.	ENST00000320901.3:c.177G>A	p.Met59Ile	p.M59I	ENST00000320901	NM_001005504.1	59	atG/atA	0	1	1	UPI00001AF2DC	0	getma.org/pdb.php?prot=O4F21_HUMAN&from=1&to=138&var=M59I	ENST00000320901		ENSG00000176269	19583		20	4.09		HGNC	p.M59I		OR4F21		SNV							ENST00000320901	protein_coding	getma.org/?cm=var&var=hg19,8,116848,C,T&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF298,Superfamily_domains:SSF81321		M/I		T	high	196/995		getma.org/?cm=msa&ty=f&p=O4F21_HUMAN&rb=1&re=138&var=M59I	deleterious_low_confidence(0)				YES	OR4F21,missense_variant,p.Met59Ile,ENST00000320901,NM_001005504.1;							MODERATE	177/939	M59I	O4F21_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000318878		CCDS34792.1			1	
CEP192	0	LGGM	GRCh37	18	13056312	13056312	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	6	.	.	ENST00000506447.1:c.3723G>A	p.Gln1241=	p.Q1241=	ENST00000506447	NM_032142.3	1241	caG/caA	0	1	1	UPI0001B09235	0		ENST00000506447		ENSG00000101639	25515		41			HGNC	p.Q841Q		CEP192		SNV							ENST00000510237	protein_coding			hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		Q		A		3803/7960				E9PF99_HUMAN			YES	CEP192,synonymous_variant,p.=,ENST00000506447,NM_032142.3;CEP192,synonymous_variant,p.=,ENST00000325971,;CEP192,synonymous_variant,p.=,ENST00000511820,;CEP192,synonymous_variant,p.=,ENST00000430049,;CEP192,synonymous_variant,p.=,ENST00000589596,;CEP192,synonymous_variant,p.=,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,upstream_gene_variant,,ENST00000589993,;CEP192,upstream_gene_variant,,ENST00000585938,;							LOW	3723/7614					Transcript			.	ENSP00000427550		CCDS32792.2			1	
SLC18A1	0	LGGM	GRCh37	8	20036746	20036746	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	6	.	.	ENST00000440926.1:c.374G>A	p.Cys125Tyr	p.C125Y	ENST00000440926	NM_001135691.2	125	tGc/tAc	0	1		UPI00001389CE	0	NA	ENST00000276373		ENSG00000036565	10934		31	2.83		HGNC	p.C125Y	rs772384593	SLC18A1		SNV				9.61E-05			ENST00000276373	protein_coding	getma.org/?cm=var&var=hg19,8,20036746,C,T&fts=all		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF71		C/Y		T	medium	641/2753		getma.org/?cm=msa&ty=f&p=VMAT1_HUMAN&rb=77&re=433&var=C125Y	deleterious(0.01)					SLC18A1,missense_variant,p.Cys125Tyr,ENST00000440926,NM_001135691.2;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000437980,NM_001142325.1;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000265808,NM_001142324.1;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000276373,NM_003053.3;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000519026,;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000381608,;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000522513,;SLC18A1,upstream_gene_variant,,ENST00000524272,;SLC18A1,missense_variant,p.Cys125Tyr,ENST00000517776,;							MODERATE	374/1578	C125Y	VMAT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276373	8.24E-06	CCDS6013.1			1	
RET	0	LGGM	GRCh37	10	43608400	43608400	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	17	6	.	.	ENST00000355710.3:c.1748A>T	p.Gln583Leu	p.Q583L	ENST00000355710	NM_020975.4	583	cAg/cTg	0	1	1	UPI00001336E1	0	NA	ENST00000355710		ENSG00000165731	9967		23	2.78		HGNC	p.Q100L		RET		SNV			1				ENST00000498820	protein_coding	getma.org/?cm=var&var=hg19,10,43608400,A,T&fts=all		PIRSF_domain:PIRSF000631,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416		Q/L		T	medium	1980/5659		getma.org/?cm=msa&ty=f&p=RET_HUMAN&rb=463&re=662&var=Q583L	deleterious(0)	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN			YES	RET,missense_variant,p.Gln583Leu,ENST00000355710,NM_020975.4;RET,missense_variant,p.Gln583Leu,ENST00000340058,NM_020630.4;RET,missense_variant,p.Gln100Leu,ENST00000498820,;							MODERATE	1748/3345	Q583L	RET_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000347942		CCDS7200.1			1	
ACE	0	LGGM	GRCh37	17	61571818	61571818	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	3	6	.	.	ENST00000290866.4:c.3367G>A	p.Val1123Met	p.V1123M	ENST00000290866	NM_000789.3	1123	Gtg/Atg	0	1	1	UPI000002B8AD	0	getma.org/pdb.php?prot=ACE_HUMAN&from=634&to=1228&var=V1123M	ENST00000290866		ENSG00000159640	2707	9.04E-05	9	2.915		HGNC	p.V549M	rs373319603	ACE		SNV	A:0		1				ENST00000577647	protein_coding	getma.org/?cm=var&var=hg19,17,61571818,G,A&fts=all		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486,Prints_domain:PR00791		V/M	A:0.0001	A	medium	3391/4199	1.55E-05	getma.org/?cm=msa&ty=f&p=ACE_HUMAN&rb=634&re=1228&var=V1123M	deleterious(0.02)	Q3KRI5_HUMAN,D3DU13_HUMAN			YES	ACE,missense_variant,p.Val549Met,ENST00000490216,;ACE,missense_variant,p.Val1123Met,ENST00000290866,NM_000789.3;ACE,missense_variant,p.Val1123Met,ENST00000428043,;ACE,missense_variant,p.Val549Met,ENST00000290863,NM_152830.2;ACE,missense_variant,p.Val549Met,ENST00000413513,NM_001178057.1;ACE,missense_variant,p.Val369Met,ENST00000421982,;ACE,missense_variant,p.Val19Met,ENST00000579409,;ACE,downstream_gene_variant,,ENST00000582761,;ACE,non_coding_transcript_exon_variant,,ENST00000577418,;ACE,missense_variant,p.Val549Met,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,non_coding_transcript_exon_variant,,ENST00000578679,;ACE,downstream_gene_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000583645,;ACE,upstream_gene_variant,,ENST00000582244,;	0.000349						MODERATE	3367/3921	V1123M	ACE_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000290866	4.12E-05	CCDS11637.1			1	
LRP12	0	LGGM	GRCh37	8	105509666	105509666	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	56	6	.	.	ENST00000276654.5:c.1114G>C	p.Asp372His	p.D372H	ENST00000276654	NM_013437.4	372	Gat/Cat	0	1	1	UPI0000047A9F	0	NA	ENST00000276654		ENSG00000147650	31708		62	2.125		HGNC	p.D353H		LRP12		SNV							ENST00000424843	protein_coding	getma.org/?cm=var&var=hg19,8,105509666,C,G&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,SMART_domains:SM00042		D/H		G	medium	1223/4112		getma.org/?cm=msa&ty=f&p=LRP12_HUMAN&rb=259&re=372&var=D372H	deleterious(0.02)	E5RIW8_HUMAN,B3KWZ8_HUMAN			YES	LRP12,missense_variant,p.Asp372His,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Asp353His,ENST00000424843,NM_001135703.2;LRP12,5_prime_UTR_variant,,ENST00000523007,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000522046,;							MODERATE	1114/2580	D372H	LRP12_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000276654		CCDS6303.1			1	
OR10P1	0	LGGM	GRCh37	12	56031561	56031561	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	6	.	.	ENST00000309675.2:c.886A>T	p.Lys296Ter	p.K296*	ENST00000309675	NM_206899.1	296	Aag/Tag	0	1	1	UPI0000061E9C	0	NA	ENST00000309675		ENSG00000175398	15378		41	0		HGNC	p.K296X		OR10P1		SNV							ENST00000309675	protein_coding	getma.org/?cm=var&var=hg19,12,56031561,A,T&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF194		K/*		T	NA	918/995		NA					YES	OR10P1,stop_gained,p.Lys296Ter,ENST00000309675,NM_206899.1;RP11-644F5.16,downstream_gene_variant,,ENST00000556606,;							HIGH	886/942	K296*	O10P1_HUMAN			Transcript			.	ENSP00000308082		CCDS31828.1			1	
PGA3	0	LGGM	GRCh37	11	60971720	60971720	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	6	.	.	ENST00000325558.6:c.198G>A	p.Gln66=	p.Q66=	ENST00000325558	NM_001079807.1	66	caG/caA	0	1	1	UPI00001FA851	0		ENST00000325558		ENSG00000229859	8885		20			HGNC	p.Q66Q		PGA3		SNV							ENST00000325558	protein_coding			hmmpanther:PTHR13683:SF239,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Superfamily_domains:SSF50630		Q		A		383/1748				F5H842_HUMAN,F5H7H3_HUMAN,F5H0H6_HUMAN			YES	PGA3,synonymous_variant,p.=,ENST00000325558,NM_001079807.1;PGA3,5_prime_UTR_variant,,ENST00000543349,;PGA3,upstream_gene_variant,,ENST00000543505,;PGA3,non_coding_transcript_exon_variant,,ENST00000535551,;PGA3,non_coding_transcript_exon_variant,,ENST00000537954,;PGA3,non_coding_transcript_exon_variant,,ENST00000539649,;PGA3,upstream_gene_variant,,ENST00000541699,;							LOW	198/1167		PEPA3_HUMAN			Transcript			.	ENSP00000322192		CCDS31574.1			1	
NUGGC	0	LGGM	GRCh37	8	27922172	27922172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	61	6	.	.	ENST00000413272.2:c.788T>C	p.Met263Thr	p.M263T	ENST00000413272	NM_001010906.1	263	aTg/aCg	0	1	1	UPI0000237454	0	NA	ENST00000413272		ENSG00000189233	33550		67	0.09		HGNC	p.M263T		NUGGC		SNV							ENST00000341513	protein_coding	getma.org/?cm=var&var=hg19,8,27922172,A,G&fts=all		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF254,Gene3D:3.40.50.300,Pfam_domain:PF00350		M/T		G	neutral	931/3887		getma.org/?cm=msa&ty=f&p=SLIP_HUMAN&rb=103&re=356&var=M263T	tolerated(1)				YES	NUGGC,missense_variant,p.Met263Thr,ENST00000413272,NM_001010906.1;NUGGC,missense_variant,p.Met263Thr,ENST00000341513,;NUGGC,downstream_gene_variant,,ENST00000418860,;							MODERATE	788/2391	M263T	SLIP_HUMAN			Transcript		benign(0.001)	.	ENSP00000408697		CCDS47833.1			1	
C16orf62	0	LGGM	GRCh37	16	19612984	19612984	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	24	7	.	.	ENST00000438132.3:c.992-2A>T		p.X331_splice	ENST00000438132	NM_020314.5			0	1		UPI0000EE7D0B	0		ENST00000417362		ENSG00000103544	24641		31			HGNC	-		C16orf62		SNV							ENST00000538853	protein_coding							T		-/2836				G5E9I3_HUMAN				C16orf62,splice_acceptor_variant,,ENST00000438132,NM_020314.5;C16orf62,splice_acceptor_variant,,ENST00000251143,;C16orf62,splice_acceptor_variant,,ENST00000543152,;C16orf62,splice_acceptor_variant,,ENST00000542263,;C16orf62,splice_acceptor_variant,,ENST00000417362,;C16orf62,splice_acceptor_variant,,ENST00000513947,;C16orf62,splice_acceptor_variant,,ENST00000538853,;C16orf62,splice_region_variant,,ENST00000448695,;C16orf62,splice_acceptor_variant,,ENST00000539322,;C16orf62,splice_acceptor_variant,,ENST00000546175,;C16orf62,non_coding_transcript_exon_variant,,ENST00000539705,;C16orf62,non_coding_transcript_exon_variant,,ENST00000535164,;C16orf62,non_coding_transcript_exon_variant,,ENST00000541153,;							HIGH	725/2613					Transcript			.	ENSP00000395973					1	
RYR1	0	LGGM	GRCh37	19	38985061	38985061	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	16	7	.	.	ENST00000359596.3:c.6344A>G	p.Glu2115Gly	p.E2115G	ENST00000359596		2115	gAg/gGg	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		23	2.83		HGNC	p.E2115G		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,38985061,A,G&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		E/G		G	medium	6344/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=1970&re=2156&var=E2115G		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Glu2115Gly,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Glu2115Gly,ENST00000360985,;RYR1,missense_variant,p.Glu2115Gly,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000594335,;							MODERATE	6344/15117	E2115G	RYR1_HUMAN			Transcript		benign(0.03)	.	ENSP00000352608		CCDS33011.1			1	
OTOP1	0	LGGM	GRCh37	4	4190606	4190606	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	60	7	.	.	ENST00000296358.4:c.1763A>G	p.Asn588Ser	p.N588S	ENST00000296358	NM_177998.1	588	aAc/aGc	0	1	1	UPI0000186945	0	NA	ENST00000296358		ENSG00000163982	19656		67	2.125		HGNC	p.N588S		OTOP1		SNV							ENST00000296358	protein_coding	getma.org/?cm=var&var=hg19,4,4190606,T,C&fts=all		Pfam_domain:PF03189,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19,Transmembrane_helices:TMhelix		N/S		C	medium	1788/1864		getma.org/?cm=msa&ty=f&p=OTOP1_HUMAN&rb=527&re=599&var=N588S	deleterious(0)				YES	OTOP1,missense_variant,p.Asn588Ser,ENST00000296358,NM_177998.1;							MODERATE	1763/1839	N588S	OTOP1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000296358		CCDS3372.1			1	
TCHHL1	0	LGGM	GRCh37	1	152057858	152057858	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	136	7	.	.	ENST00000368806.1:c.2300A>G	p.Lys767Arg	p.K767R	ENST00000368806	NM_001008536.1	767	aAa/aGa	0	1	1	UPI0000496834	0	NA	ENST00000368806		ENSG00000182898	31796		143	1.59		HGNC	p.K767R		TCHHL1		SNV							ENST00000368806	protein_coding	getma.org/?cm=var&var=hg19,1,152057858,T,C&fts=all		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53		K/R		C	low	2365/3603		getma.org/?cm=msa&ty=f&p=TCHL1_HUMAN&rb=610&re=809&var=K767R	tolerated(0.13)				YES	TCHHL1,missense_variant,p.Lys767Arg,ENST00000368806,NM_001008536.1;							MODERATE	2300/2715	K767R	TCHL1_HUMAN			Transcript		benign(0.071)	.	ENSP00000357796		CCDS30857.1			1	
TKT	0	LGGM	GRCh37	3	53263338	53263338	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	5	7	.	.	ENST00000423516.1:c.1246A>T	p.Ser416Cys	p.S416C	ENST00000423516	NM_001258028.1	416	Agc/Tgc	0	1		UPI0000137002	0	getma.org/pdb.php?prot=TKT_HUMAN&from=313&to=478&var=S408C	ENST00000423525		ENSG00000163931	11834		12	2.85		HGNC	p.S416C		TKT		SNV							ENST00000423516	protein_coding	getma.org/?cm=var&var=hg19,3,53263338,T,A&fts=all		Gene3D:3.40.50.970,Pfam_domain:PF02779,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF59,SMART_domains:SM00861,Superfamily_domains:SSF52518		S/C		A	medium	1280/2831		getma.org/?cm=msa&ty=f&p=TKT_HUMAN&rb=313&re=478&var=S408C	deleterious(0)	B4E022_HUMAN,B3KPZ8_HUMAN				TKT,missense_variant,p.Ser408Cys,ENST00000462138,;TKT,missense_variant,p.Ser408Cys,ENST00000423525,NM_001135055.2;TKT,missense_variant,p.Ser416Cys,ENST00000423516,NM_001258028.1;TKT,missense_variant,p.Ser361Cys,ENST00000296289,NM_001064.3;TKT,non_coding_transcript_exon_variant,,ENST00000461139,;TKT,3_prime_UTR_variant,,ENST00000450814,;TKT,3_prime_UTR_variant,,ENST00000469678,;TKT,non_coding_transcript_exon_variant,,ENST00000460343,;TKT,non_coding_transcript_exon_variant,,ENST00000460243,;TKT,downstream_gene_variant,,ENST00000494523,;TKT,downstream_gene_variant,,ENST00000472528,;TKT,downstream_gene_variant,,ENST00000466765,;							MODERATE	1222/1872	S408C	TKT_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000405455		CCDS2871.1			1	
PYROXD2	0	LGGM	GRCh37	10	100150464	100150464	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	1	7	.	.	ENST00000370575.4:c.1183A>T	p.Arg395Trp	p.R395W	ENST00000370575	NM_032709.2	395	Agg/Tgg	0	1	1	UPI000013CA6A	0	NA	ENST00000370575		ENSG00000119943	23517		8	0		HGNC	p.R395W		PYROXD2		SNV							ENST00000370575	protein_coding	getma.org/?cm=var&var=hg19,10,100150464,T,A&fts=all		hmmpanther:PTHR10668:SF4,hmmpanther:PTHR10668		R/W		A	neutral	1232/2028		getma.org/?cm=msa&ty=f&p=PYRD2_HUMAN&rb=303&re=502&var=R395W	deleterious(0.01)	B4DIN5_HUMAN			YES	PYROXD2,missense_variant,p.Arg395Trp,ENST00000370575,NM_032709.2;MIR1287,downstream_gene_variant,,ENST00000408492,;PYROXD2,non_coding_transcript_exon_variant,,ENST00000483923,;PYROXD2,upstream_gene_variant,,ENST00000464808,;							MODERATE	1183/1746	R395W	PYRD2_HUMAN			Transcript		benign(0.325)	.	ENSP00000359607		CCDS7474.1			1	
AICDA	0	LGGM	GRCh37	12	8757906	8757906	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	11	7	.	.	ENST00000229335.6:c.332C>T	p.Ala111Val	p.A111V	ENST00000229335	NM_020661.2	111	gCg/gTg	0	1	1	UPI000000171E	0	getma.org/pdb.php?prot=AICDA_HUMAN&from=11&to=181&var=A111V	ENST00000229335		ENSG00000111732	13203		18	2.445		HGNC	p.A111V	COSM256274	AICDA		SNV			1			1	ENST00000229335	protein_coding	getma.org/?cm=var&var=hg19,12,8757906,G,A&fts=all		Pfam_domain:PF08210,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF10,Superfamily_domains:SSF53927		A/V		A	medium	436/2819		getma.org/?cm=msa&ty=f&p=AICDA_HUMAN&rb=11&re=181&var=A111V	deleterious(0.01)	Q7Z599_HUMAN,Q5XM85_HUMAN,Q546Y9_HUMAN,A3QRX5_HUMAN			YES	AICDA,missense_variant,p.Ala111Val,ENST00000229335,NM_020661.2;AICDA,missense_variant,p.Ala110Val,ENST00000543081,;AICDA,missense_variant,p.Ala111Val,ENST00000537228,;AICDA,missense_variant,p.Ala110Val,ENST00000545512,;AICDA,intron_variant,,ENST00000544516,;AICDA,non_coding_transcript_exon_variant,,ENST00000545576,;					1		MODERATE	332/597	A111V	AICDA_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000229335		CCDS41747.1			1	
CDH11	0	LGGM	GRCh37	16	65032473	65032473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	30	7	.	.	ENST00000268603.4:c.515C>T	p.Ser172Phe	p.S172F	ENST00000268603	NM_001797.2	172	tCc/tTc	0	1	1	UPI000013D7C5	0	getma.org/pdb.php?prot=CAD11_HUMAN&from=164&to=259&var=S172F	ENST00000268603		ENSG00000140937	1750		37	3.125		HGNC	p.S172F		CDH11		SNV							ENST00000268603	protein_coding	getma.org/?cm=var&var=hg19,16,65032473,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,Superfamily_domains:SSF49313		S/F		A	medium	1131/6857		getma.org/?cm=msa&ty=f&p=CAD11_HUMAN&rb=164&re=259&var=S172F	deleterious(0)	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN			YES	CDH11,missense_variant,p.Ser172Phe,ENST00000394156,;CDH11,missense_variant,p.Ser172Phe,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Ser46Phe,ENST00000566827,;CDH11,missense_variant,p.Ser172Phe,ENST00000567934,;CDH11,non_coding_transcript_exon_variant,,ENST00000569128,;							MODERATE	515/2391	S172F	CAD11_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000268603		CCDS10803.1			1	
RAP1GAP	0	LGGM	GRCh37	1	21937988	21937988	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	7	.	.	ENST00000290101.4:c.992A>T	p.His331Leu	p.H331L	ENST00000290101	NM_001145658.1	331	cAc/cTc	0	1		UPI000046FFB3	0	getma.org/pdb.php?prot=RPGP1_HUMAN&from=210&to=397&var=H267L	ENST00000374765		ENSG00000076864	9858		25	4.03		HGNC	p.H298L		RAP1GAP		SNV							ENST00000374761	protein_coding	getma.org/?cm=var&var=hg19,1,21937988,T,A&fts=all		Superfamily_domains:0043732,Pfam_domain:PF02145,PROSITE_profiles:PS50085,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF3		H/L		A	high	1001/3271		getma.org/?cm=msa&ty=f&p=RPGP1_HUMAN&rb=210&re=397&var=H267L	deleterious(0)	Q5T3T1_HUMAN,Q5T3T0_HUMAN				RAP1GAP,missense_variant,p.His267Leu,ENST00000542643,NM_001145657.1;RAP1GAP,missense_variant,p.His267Leu,ENST00000374763,;RAP1GAP,missense_variant,p.His331Leu,ENST00000290101,NM_001145658.1;RAP1GAP,missense_variant,p.His267Leu,ENST00000374765,NM_002885.2;RAP1GAP,missense_variant,p.His298Leu,ENST00000374761,;RAP1GAP,downstream_gene_variant,,ENST00000359708,;RAP1GAP,downstream_gene_variant,,ENST00000599760,;RAP1GAP,downstream_gene_variant,,ENST00000374757,;RAP1GAP,missense_variant,p.His267Leu,ENST00000495204,;RAP1GAP,missense_variant,p.His267Leu,ENST00000471600,;							MODERATE	800/1992	H267L	RPGP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363897		CCDS218.1			1	
LACTB	0	LGGM	GRCh37	15	63434003	63434003	+	stop_retained_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	7	.	.	ENST00000261893.4:c.1643G>A	p.Ter548=	p.*548=	ENST00000261893	NM_032857.3	548	tGa/tAa	0	1	1	UPI000013D220	0		ENST00000261893		ENSG00000103642	16468		42			HGNC	p.X548X		LACTB		SNV							ENST00000261893	protein_coding					*		A		1715/1972				H0YNN5_HUMAN			YES	LACTB,stop_retained_variant,p.=,ENST00000261893,NM_032857.3;RPS27L,intron_variant,,ENST00000559763,;LACTB,downstream_gene_variant,,ENST00000559782,;							LOW	1643/1644		LACTB_HUMAN			Transcript			.	ENSP00000261893		CCDS10182.1			1	
NGF	0	LGGM	GRCh37	1	115828969	115828969	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	47	7	.	.	ENST00000369512.2:c.448A>G	p.Thr150Ala	p.T150A	ENST00000369512	NM_002506.2	150	Aca/Gca	0	1	1	UPI0000039B11	0	getma.org/pdb.php?prot=NGF_HUMAN&from=125&to=239&var=T150A	ENST00000369512		ENSG00000134259	7808		54	2.505		HGNC	p.T150A	rs766568424	NGF		SNV			1				ENST00000369512	protein_coding	getma.org/?cm=var&var=hg19,1,115828969,T,C&fts=all		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		T/A		C	medium	617/1047	1.50E-05	getma.org/?cm=msa&ty=f&p=NGF_HUMAN&rb=125&re=239&var=T150A	deleterious(0.02)				YES	NGF,missense_variant,p.Thr150Ala,ENST00000369512,NM_002506.2;RP4-663N10.1,intron_variant,,ENST00000425449,;							MODERATE	448/726	T150A	NGF_HUMAN			Transcript		benign(0.25)	.	ENSP00000358525	8.24E-06	CCDS882.1			1	
DPP6	0	LGGM	GRCh37	7	154002591	154002591	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	6	8	.	.	ENST00000377770.3:c.244-140708C>A		*82*	ENST00000377770				0	1	1	UPI00001AE746	0		ENST00000377770		ENSG00000130226	3010		14			HGNC	p.A4A		DPP6		SNV			1				ENST00000427557	protein_coding							A		-/3710				Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,synonymous_variant,p.=,ENST00000332007,;DPP6,synonymous_variant,p.=,ENST00000427557,;DPP6,intron_variant,,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000406326,;DPP6,non_coding_transcript_exon_variant,,ENST00000496611,;DPP6,non_coding_transcript_exon_variant,,ENST00000462622,;							MODIFIER	-/2598		DPP6_HUMAN			Transcript			.	ENSP00000367001					1	
SPTBN2	0	LGGM	GRCh37	11	66482745	66482745	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	22	8	.	.	ENST00000533211.1:c.431G>A	p.Gly144Glu	p.G144E	ENST00000533211		144	gGa/gAa	0	1		UPI000013EF83	0	getma.org/pdb.php?prot=SPTN2_HUMAN&from=60&to=161&var=G144E	ENST00000309996		ENSG00000173898	11276		30	3.45		HGNC	p.G144E		SPTBN2		SNV			1				ENST00000309996	protein_coding	getma.org/?cm=var&var=hg19,11,66482745,C,T&fts=all		PROSITE_profiles:PS50021,hmmpanther:PTHR11915:SF205,hmmpanther:PTHR11915,PROSITE_patterns:PS00020,Gene3D:1.10.418.10,Pfam_domain:PF00307,PIRSF_domain:PIRSF002297,SMART_domains:SM00033,Superfamily_domains:SSF47576		G/E		T	medium	503/7866		getma.org/?cm=msa&ty=f&p=SPTN2_HUMAN&rb=60&re=161&var=G144E	deleterious(0)	E9PJZ2_HUMAN,C1KC08_HUMAN				SPTBN2,missense_variant,p.Gly144Glu,ENST00000533211,;SPTBN2,missense_variant,p.Gly144Glu,ENST00000529997,;SPTBN2,missense_variant,p.Gly144Glu,ENST00000309996,NM_006946.2;SPTBN2,downstream_gene_variant,,ENST00000527010,;RN7SL12P,upstream_gene_variant,,ENST00000473849,;							MODERATE	431/7173	G144E	SPTN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311489		CCDS8150.1			1	
MRPL27	0	LGGM	GRCh37	17	48450513	48450513	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	2	8	.	.	ENST00000225969.4:c.19G>A	p.Ala7Thr	p.A7T	ENST00000225969	NM_016504.2	7	Gcg/Acg	0	1	1	UPI00001342E1	0	NA	ENST00000225969		ENSG00000108826	14483		10	0.55		HGNC	p.A7T	rs374090666	MRPL27	0.000121	SNV	T:0			9.73E-05			ENST00000442592	protein_coding	getma.org/?cm=var&var=hg19,17,48450513,C,T&fts=all	A:0	hmmpanther:PTHR15893		A/T	T:0.0002	T	neutral	63/716	3.02E-05	getma.org/?cm=msa&ty=f&p=RM27_HUMAN&rb=1&re=30&var=A7T	tolerated_low_confidence(0.32)	D6RAN8_HUMAN	A:0	A:0	YES	MRPL27,missense_variant,p.Ala7Thr,ENST00000442592,;MRPL27,missense_variant,p.Ala7Thr,ENST00000503633,;MRPL27,missense_variant,p.Ala7Thr,ENST00000225969,NM_016504.2;EME1,upstream_gene_variant,,ENST00000393271,NM_001166131.1;EME1,upstream_gene_variant,,ENST00000338165,NM_152463.2;EME1,upstream_gene_variant,,ENST00000511648,;EME1,upstream_gene_variant,,ENST00000510246,;MRPL27,upstream_gene_variant,,ENST00000511860,;MRPL27,upstream_gene_variant,,ENST00000507088,;MRPL27,upstream_gene_variant,,ENST00000508200,;EME1,upstream_gene_variant,,ENST00000511519,;LRRC59,downstream_gene_variant,,ENST00000503118,;MRPL27,non_coding_transcript_exon_variant,,ENST00000514928,;EME1,upstream_gene_variant,,ENST00000510007,;EME1,upstream_gene_variant,,ENST00000511711,;EME1,upstream_gene_variant,,ENST00000513077,;		A:0.0002					MODERATE	19/447	A7T	RM27_HUMAN		A:0	Transcript		benign(0.002)	.	ENSP00000225969	4.12E-05	CCDS11564.1		A:0.001	1	
CTNNA2	0	LGGM	GRCh37	2	80136815	80136815	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	30	8	.	.	ENST00000466387.1:c.948G>A	p.Leu316=	p.L316=	ENST00000466387		316	ctG/ctA	0	1		UPI0000D9D4EC	0		ENST00000402739		ENSG00000066032	2510		38			HGNC	p.L316L		CTNNA2		SNV							ENST00000402739	protein_coding			Prints_domain:PR00805,Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		L		A		953/3684				C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.1;CTNNA2,synonymous_variant,p.=,ENST00000541047,;CTNNA2,synonymous_variant,p.=,ENST00000361291,;CTNNA2,synonymous_variant,p.=,ENST00000540488,;							LOW	948/2862		CTNA2_HUMAN			Transcript			.	ENSP00000384638		CCDS62944.1			1	
CCDC108	0	LGGM	GRCh37	2	219885944	219885944	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	11	8	.	.	ENST00000341552.5:c.3189C>A	p.Cys1063Ter	p.C1063*	ENST00000341552	NM_194302.3	1063	tgC/tgA	0	1	1	UPI0000609097	0	NA	ENST00000341552		ENSG00000181378	25325		19	0		HGNC	p.C1063X		CCDC108		SNV							ENST00000341552	protein_coding	getma.org/?cm=var&var=hg19,2,219885944,G,T&fts=all		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197		C/*		T	NA	3273/5953		NA		C9JLP9_HUMAN,C9JIV0_HUMAN			YES	CCDC108,stop_gained,p.Cys1063Ter,ENST00000341552,NM_194302.3;CCDC108,stop_gained,p.Cys1063Ter,ENST00000441968,;CCDC108,stop_gained,p.Cys1063Ter,ENST00000453220,;CCDC108,upstream_gene_variant,,ENST00000413871,;							HIGH	3189/5778	C1063*	CC108_HUMAN			Transcript			.	ENSP00000340776		CCDS2430.2			1	
TNPO2	0	LGGM	GRCh37	19	12825928	12825928	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	10	8	.	.	ENST00000425528.1:c.704G>A	p.Arg235His	p.R235H	ENST00000425528		235	cGt/cAt	0	1	1	UPI000013F0EA	0	getma.org/pdb.php?prot=TNPO2_HUMAN&from=100&to=299&var=R235H	ENST00000425528		ENSG00000105576	19998		18	0.875		HGNC	p.R235H	rs776108182,COSM1390636,COSM1390635	TNPO2	9.55E-05	SNV				0.000103		0,1,1	ENST00000592287	protein_coding	getma.org/?cm=var&var=hg19,19,12825928,C,T&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF17,hmmpanther:PTHR10527		R/H		T	low	1062/5122		getma.org/?cm=msa&ty=f&p=TNPO2_HUMAN&rb=100&re=299&var=R235H	tolerated(0.18)	K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN			YES	TNPO2,missense_variant,p.Arg235His,ENST00000425528,;TNPO2,missense_variant,p.Arg235His,ENST00000441499,NM_001136195.1;TNPO2,missense_variant,p.Arg235His,ENST00000450764,;TNPO2,missense_variant,p.Arg235His,ENST00000356861,NM_013433.4;TNPO2,missense_variant,p.Arg235His,ENST00000588216,;TNPO2,missense_variant,p.Arg235His,ENST00000592287,NM_001136196.1;TNPO2,downstream_gene_variant,,ENST00000590781,;TNPO2,downstream_gene_variant,,ENST00000589337,;TNPO2,intron_variant,,ENST00000589956,;TNPO2,missense_variant,p.Arg235His,ENST00000585886,;TNPO2,3_prime_UTR_variant,,ENST00000586775,;TNPO2,non_coding_transcript_exon_variant,,ENST00000588151,;TNPO2,downstream_gene_variant,,ENST00000587654,;TNPO2,downstream_gene_variant,,ENST00000588484,;					0,1,1		MODERATE	704/2694	R235H	TNPO2_HUMAN			Transcript		benign(0.015)	.	ENSP00000407182	1.65E-05	CCDS45991.1			1	
NAA11	0	LGGM	GRCh37	4	80246748	80246748	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	46	8	.	.	ENST00000286794.4:c.284C>A	p.Ser95Tyr	p.S95Y	ENST00000286794	NM_032693.2	95	tCc/tAc	0	1	1	UPI00000467CA	0	getma.org/pdb.php?prot=NAA11_HUMAN&from=46&to=129&var=S95Y	ENST00000286794		ENSG00000156269	28125		54	0.345		HGNC	p.S95Y		NAA11		SNV							ENST00000286794	protein_coding	getma.org/?cm=var&var=hg19,4,80246748,G,T&fts=all		Gene3D:3.40.630.30,Pfam_domain:PF00583,PROSITE_profiles:PS51186,hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF205,Superfamily_domains:SSF55729		S/Y		T	neutral	457/2014		getma.org/?cm=msa&ty=f&p=NAA11_HUMAN&rb=46&re=129&var=S95Y	deleterious(0)	H0Y8T0_HUMAN			YES	NAA11,missense_variant,p.Ser95Tyr,ENST00000286794,NM_032693.2;NAA11,upstream_gene_variant,,ENST00000513733,;NAA11,upstream_gene_variant,,ENST00000511542,;							MODERATE	284/690	S95Y	NAA11_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000286794		CCDS47084.1			1	
EIF2B4	0	LGGM	GRCh37	2	27591591	27591591	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	34	8	.	.	ENST00000451130.2:c.488G>A	p.Arg163His	p.R163H	ENST00000451130	NM_172195.3	163	cGt/cAt	0	1		UPI0000129AB2	0	NA	ENST00000347454		ENSG00000115211	3260	8.67E-05	42	1.38		HGNC	p.R143H	rs368243788	EIF2B4	6.06E-05	SNV	T:0		1	9.70E-05			ENST00000347454	protein_coding	getma.org/?cm=var&var=hg19,2,27591591,C,T&fts=all	T:0	hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF14		R/H	T:0.0002	T	low	600/1792	0.000361	getma.org/?cm=msa&ty=f&p=EI2BD_HUMAN&rb=56&re=217&var=R143H	tolerated(0.07)		T:0	T:0		EIF2B4,missense_variant,p.Arg164His,ENST00000493344,;EIF2B4,missense_variant,p.Arg143His,ENST00000347454,NM_015636.3,NM_001034116.1;EIF2B4,missense_variant,p.Arg163His,ENST00000451130,NM_172195.3;EIF2B4,missense_variant,p.Arg142His,ENST00000445933,;SNX17,upstream_gene_variant,,ENST00000233575,NM_001267059.1,NM_001267061.1,NM_014748.3;SNX17,upstream_gene_variant,,ENST00000542478,;SNX17,upstream_gene_variant,,ENST00000543024,;SNX17,upstream_gene_variant,,ENST00000537606,NM_001267060.1;AC074117.10,downstream_gene_variant,,ENST00000412749,;EIF2B4,missense_variant,p.Arg143His,ENST00000405940,;EIF2B4,missense_variant,p.Arg2His,ENST00000417567,;EIF2B4,3_prime_UTR_variant,,ENST00000418146,;EIF2B4,non_coding_transcript_exon_variant,,ENST00000475582,;EIF2B4,non_coding_transcript_exon_variant,,ENST00000462749,;SNX17,upstream_gene_variant,,ENST00000427123,;SNX17,upstream_gene_variant,,ENST00000440760,;SNX17,upstream_gene_variant,,ENST00000453453,;SNX17,upstream_gene_variant,,ENST00000494893,;SNX17,upstream_gene_variant,,ENST00000489402,;EIF2B4,upstream_gene_variant,,ENST00000478311,;SNX17,upstream_gene_variant,,ENST00000484886,;SNX17,upstream_gene_variant,,ENST00000464279,;		T:0.0002					MODERATE	428/1572	R143H	EI2BD_HUMAN		T:0.001	Transcript		benign(0.011)	.	ENSP00000233552	0.000222	CCDS33164.1		T:0	1	
RNF145	0	LGGM	GRCh37	5	158601150	158601150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	66	8	.	.	ENST00000518802.1:c.728G>T	p.Gly243Val	p.G243V	ENST00000518802	NM_001199380.1	243	gGc/gTc	0	1		UPI00000403E9	0	NA	ENST00000424310		ENSG00000145860	20853		74	1.04		HGNC	p.G243V		RNF145		SNV							ENST00000518802	protein_coding	getma.org/?cm=var&var=hg19,5,158601150,C,A&fts=all		Pfam_domain:PF13705,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF68,Transmembrane_helices:TMhelix		G/V		A	low	998/3613		getma.org/?cm=msa&ty=f&p=RN145_HUMAN&rb=7&re=506&var=G213V	deleterious(0.01)	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN				RNF145,missense_variant,p.Gly213Val,ENST00000424310,NM_001199383.1;RNF145,missense_variant,p.Gly213Val,ENST00000519865,NM_001199381.1;RNF145,missense_variant,p.Gly241Val,ENST00000274542,NM_144726.2;RNF145,missense_variant,p.Gly230Val,ENST00000521606,;RNF145,missense_variant,p.Gly243Val,ENST00000518802,NM_001199380.1;RNF145,missense_variant,p.Gly227Val,ENST00000520638,NM_001199382.1;RNF145,upstream_gene_variant,,ENST00000521266,;							MODERATE	638/1992	G213V	RN145_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000409064		CCDS56390.1			1	
PTPRS	0	LGGM	GRCh37	19	5206787	5206787	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	7	9	.	.	ENST00000357368.4:c.5845T>A	p.Ter1949LysextTer154	p.*1949Kext*154	ENST00000357368	NM_002850.3	1949	Taa/Aaa	0	1	1	UPI000059D63E	0		ENST00000357368		ENSG00000105426	9681		16			HGNC	p.X1502K		PTPRS		SNV							ENST00000353284	protein_coding					*/K		T		6079/7347				K7ESP0_HUMAN,K7ERX4_HUMAN			YES	PTPRS,stop_lost,p.Ter1950LysextTer154,ENST00000372412,;PTPRS,stop_lost,p.Ter1949LysextTer154,ENST00000357368,NM_002850.3;PTPRS,stop_lost,p.Ter1929LysextTer154,ENST00000262963,;PTPRS,stop_lost,p.Ter1911LysextTer154,ENST00000348075,NM_130854.2;PTPRS,stop_lost,p.Ter1949LysextTer?,ENST00000587303,;PTPRS,stop_lost,p.Ter1502LysextTer154,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,stop_lost,p.Ter1911LysextTer?,ENST00000588012,;PTPRS,stop_lost,p.Ter1502LysextTer?,ENST00000592099,;PTPRS,intron_variant,,ENST00000588552,;							HIGH	5845/5847		PTPRS_HUMAN			Transcript			.	ENSP00000349932		CCDS45930.1			1	
BTG2	0	LGGM	GRCh37	1	203276450	203276450	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	9	.	.	ENST00000290551.4:c.361G>A	p.Val121Ile	p.V121I	ENST00000290551	NM_006763.2	121	Gtc/Atc	0	1	1	UPI000011DD3B	0	getma.org/pdb.php?prot=BTG2_HUMAN&from=9&to=125&var=V121I	ENST00000290551		ENSG00000159388	1131		34	2.365		HGNC	p.V121I		BTG2		SNV							ENST00000475157	protein_coding	getma.org/?cm=var&var=hg19,1,203276450,G,A&fts=all		hmmpanther:PTHR22978,hmmpanther:PTHR22978:SF25,Pfam_domain:PF07742,Superfamily_domains:SSF160696,Prints_domain:PR00310		V/I		A	medium	432/2712		getma.org/?cm=msa&ty=f&p=BTG2_HUMAN&rb=9&re=125&var=V121I	deleterious(0.01)				YES	BTG2,missense_variant,p.Val121Ile,ENST00000290551,NM_006763.2;LINC01136,upstream_gene_variant,,ENST00000457348,;LINC01136,upstream_gene_variant,,ENST00000432511,;LINC01136,upstream_gene_variant,,ENST00000425698,;BTG2,missense_variant,p.Val121Ile,ENST00000475157,;							MODERATE	361/477	V121I	BTG2_HUMAN			Transcript		benign(0.078)	.	ENSP00000290551		CCDS1437.1			1	
PGAP1	0	LGGM	GRCh37	2	197708754	197708754	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	24	9	.	.	ENST00000354764.4:c.2383A>T	p.Lys795Ter	p.K795*	ENST00000354764	NM_024989.3	795	Aaa/Taa	0	1	1	UPI000035154F	0	NA	ENST00000354764		ENSG00000197121	25712		33	0		HGNC	p.K67X		PGAP1		SNV			1				ENST00000422444	protein_coding	getma.org/?cm=var&var=hg19,2,197708754,T,A&fts=all		hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF15		K/*		A	NA	2498/11114		NA					YES	PGAP1,stop_gained,p.Lys795Ter,ENST00000354764,NM_024989.3;PGAP1,stop_gained,p.Lys67Ter,ENST00000422444,;PGAP1,downstream_gene_variant,,ENST00000409475,;PGAP1,upstream_gene_variant,,ENST00000459896,;PGAP1,3_prime_UTR_variant,,ENST00000423035,;PGAP1,non_coding_transcript_exon_variant,,ENST00000470179,;							HIGH	2383/2769	K795*	PGAP1_HUMAN			Transcript			.	ENSP00000346809		CCDS2318.1			1	
ITGB6	0	LGGM	GRCh37	2	160994239	160994239	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	9	.	.	ENST00000283249.2:c.1366T>C	p.Cys456Arg	p.C456R	ENST00000283249	NM_001282388.1	456	Tgt/Cgt	0	1	1	UPI000012DA13	0	getma.org/pdb.php?prot=ITB6_HUMAN&from=30&to=456&var=C456R	ENST00000283249		ENSG00000115221	6161		29	3.665		HGNC	p.C456R		ITGB6		SNV			1				ENST00000409967	protein_coding	getma.org/?cm=var&var=hg19,2,160994239,A,G&fts=all		hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF11,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF69179		C/R		G	high	1604/4675		getma.org/?cm=msa&ty=f&p=ITB6_HUMAN&rb=30&re=456&var=C456R	deleterious(0)				YES	ITGB6,missense_variant,p.Cys456Arg,ENST00000283249,NM_001282388.1,NM_001282354.1,NM_001282353.1;ITGB6,missense_variant,p.Cys414Arg,ENST00000428609,;ITGB6,missense_variant,p.Cys456Arg,ENST00000409872,NM_000888.3;ITGB6,missense_variant,p.Cys456Arg,ENST00000409967,NM_001282355.1;ITGB6,downstream_gene_variant,,ENST00000485635,;ITGB6,3_prime_UTR_variant,,ENST00000409583,NM_001282390.1,NM_001282389.1;							MODERATE	1366/2367	C456R	ITB6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000283249		CCDS2212.1			1	
NELFB	0	LGGM	GRCh37	9	140166634	140166634	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	9	.	.	ENST00000343053.4:c.1447A>T	p.Ser483Cys	p.S483C	ENST00000343053	NM_015456.3	483	Agc/Tgc	0	1	1	UPI0000070699	0	NA	ENST00000343053		ENSG00000188986	24324		23	1.245		HGNC	p.S483C		NELFB		SNV							ENST00000343053	protein_coding	getma.org/?cm=var&var=hg19,9,140166634,A,T&fts=all		Pfam_domain:PF06209,hmmpanther:PTHR13503		S/C		T	low	1784/2698		getma.org/?cm=msa&ty=f&p=NELFB_HUMAN&rb=106&re=580&var=S483C	deleterious(0.01)				YES	NELFB,missense_variant,p.Ser483Cys,ENST00000343053,NM_015456.3;							MODERATE	1447/1743	S483C	NELFB_HUMAN			Transcript		possibly_damaging(0.612)	.	ENSP00000339495		CCDS7040.1			1	
EPB41L3	0	LGGM	GRCh37	18	5489191	5489191	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	9	.	.	ENST00000341928.2:c.-9C>A		p.X3_splice	ENST00000341928	NM_012307.3			0	1	1	UPI0000129AFA	0		ENST00000341928		ENSG00000082397	3380		29			HGNC	p.Q20K		EPB41L3		SNV							ENST00000582592	protein_coding							T		333/4706				J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN			YES	EPB41L3,missense_variant,p.Gln20Lys,ENST00000582592,;EPB41L3,splice_region_variant,,ENST00000341928,NM_012307.3;EPB41L3,splice_region_variant,,ENST00000342933,;EPB41L3,splice_region_variant,,ENST00000540638,NM_001281534.1;EPB41L3,splice_region_variant,,ENST00000544123,NM_001281533.1;EPB41L3,splice_region_variant,,ENST00000400111,;EPB41L3,splice_region_variant,,ENST00000581833,;EPB41L3,splice_region_variant,,ENST00000585142,;EPB41L3,splice_region_variant,,ENST00000580989,;EPB41L3,splice_region_variant,,ENST00000582703,;EPB41L3,splice_region_variant,,ENST00000584651,;EPB41L3,splice_region_variant,,ENST00000584015,;EPB41L3,splice_region_variant,,ENST00000580179,;EPB41L3,splice_region_variant,,ENST00000580308,;EPB41L3,5_prime_UTR_variant,,ENST00000578503,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,intron_variant,,ENST00000545076,;EPB41L3,intron_variant,,ENST00000578431,;EPB41L3,upstream_gene_variant,,ENST00000581454,;EPB41L3,upstream_gene_variant,,ENST00000580866,;							LOW	-/3264		E41L3_HUMAN			Transcript			.	ENSP00000343158		CCDS11838.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103090702	103090702	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	53	9	.	.	ENST00000398093.3:c.8891T>A	p.Val2964Asp	p.V2964D	ENST00000398093		2964	gTt/gAt	0	1		UPI0000418CA2	0	getma.org/pdb.php?prot=DYHC2_HUMAN&from=2895&to=3231&var=V2964D	ENST00000375735		ENSG00000187240	2962		62	0.55		HGNC	p.V2964D		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,103090702,T,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		V/D		A	neutral	9035/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=2895&re=3231&var=V2964D						DYNC2H1,missense_variant,p.Val2964Asp,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Val2964Asp,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,downstream_gene_variant,,ENST00000533027,;							MODERATE	8891/12924	V2964D	DYHC2_HUMAN			Transcript		benign(0.008)	.	ENSP00000364887		CCDS53701.1			1	
MCF2L2	0	LGGM	GRCh37	3	183017803	183017803	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	51	9	.	.	ENST00000328913.3:c.1295A>T	p.Gln432Leu	p.Q432L	ENST00000328913	NM_015078.2	432	cAg/cTg	0	1	1	UPI00001A962F	0	NA	ENST00000328913		ENSG00000053524	30319		60	0.85		HGNC	p.Q432L		MCF2L2		SNV			1				ENST00000414362	protein_coding	getma.org/?cm=var&var=hg19,3,183017803,T,A&fts=all		hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826		Q/L		A	low	1593/4980		getma.org/?cm=msa&ty=f&p=MF2L2_HUMAN&rb=395&re=594&var=Q432L	tolerated(0.79)	C9J326_HUMAN			YES	MCF2L2,missense_variant,p.Gln432Leu,ENST00000328913,NM_015078.2;MCF2L2,missense_variant,p.Gln432Leu,ENST00000473233,;MCF2L2,missense_variant,p.Gln432Leu,ENST00000414362,;MCF2L2,missense_variant,p.Gln432Leu,ENST00000447025,;B3GNT5,downstream_gene_variant,,ENST00000462559,;B3GNT5,downstream_gene_variant,,ENST00000480551,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000459750,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000492331,;MCF2L2,upstream_gene_variant,,ENST00000475664,;							MODERATE	1295/3345	Q432L	MF2L2_HUMAN			Transcript		benign(0.016)	.	ENSP00000328118		CCDS3243.1			1	
LACTB	0	LGGM	GRCh37	15	63433958	63433958	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	9	.	.	ENST00000261893.4:c.1598C>T	p.Thr533Ile	p.T533I	ENST00000261893	NM_032857.3	533	aCc/aTc	0	1	1	UPI000013D220	0	NA	ENST00000261893		ENSG00000103642	16468		46	1.035		HGNC	p.T533I	COSM1172272	LACTB		SNV						1	ENST00000261893	protein_coding	getma.org/?cm=var&var=hg19,15,63433958,C,T&fts=all		Gene3D:3.40.710.10,hmmpanther:PTHR22935,hmmpanther:PTHR22935:SF64		T/I		T	low	1670/1972		getma.org/?cm=msa&ty=f&p=LACTB_HUMAN&rb=277&re=538&var=T533I	tolerated(0.12)	H0YNN5_HUMAN			YES	LACTB,missense_variant,p.Thr533Ile,ENST00000261893,NM_032857.3;RPS27L,intron_variant,,ENST00000559763,;LACTB,downstream_gene_variant,,ENST00000559782,;					1		MODERATE	1598/1644	T533I	LACTB_HUMAN			Transcript		possibly_damaging(0.574)	.	ENSP00000261893		CCDS10182.1			1	
SDR16C5	0	LGGM	GRCh37	8	57219284	57219284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	42	9	.	.	ENST00000303749.3:c.661G>T	p.Val221Leu	p.V221L	ENST00000303749	NM_138969.2	221	Gtg/Ttg	0	1	1	UPI000013E8E3	0	getma.org/pdb.php?prot=RDHE2_HUMAN&from=208&to=309&var=V221L	ENST00000303749		ENSG00000170786	30311		51	2.395		HGNC	p.V221L		SDR16C5		SNV							ENST00000522671	protein_coding	getma.org/?cm=var&var=hg19,8,57219284,C,A&fts=all		hmmpanther:PTHR24316:SF246,hmmpanther:PTHR24316,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081		V/L		A	medium	1299/1840		getma.org/?cm=msa&ty=f&p=RDHE2_HUMAN&rb=208&re=309&var=V221L	deleterious(0)				YES	SDR16C5,missense_variant,p.Val177Leu,ENST00000396721,;SDR16C5,missense_variant,p.Val221Leu,ENST00000522671,;SDR16C5,missense_variant,p.Val221Leu,ENST00000303749,NM_138969.2;							MODERATE	661/930	V221L	RDHE2_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000307607		CCDS6167.1			1	
KIAA1432	0	LGGM	GRCh37	9	5742965	5742965	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	22	10	.	.	ENST00000414202.2:c.998G>A	p.Trp333Ter	p.W333*	ENST00000414202	NM_001206557.1	333	tGg/tAg	0	1	1	UPI00002110DE	0	NA	ENST00000414202		ENSG00000107036	17686		32	0		HGNC	p.W333X		KIAA1432		SNV							ENST00000414202	protein_coding	getma.org/?cm=var&var=hg19,9,5742965,G,A&fts=all		hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		W/*		A	NA	1189/6774		NA					YES	KIAA1432,stop_gained,p.Trp333Ter,ENST00000414202,NM_001206557.1,NM_020829.3;KIAA1432,stop_gained,p.Trp254Ter,ENST00000418622,;KIAA1432,stop_gained,p.Trp333Ter,ENST00000251879,NM_001135920.2;KIAA1432,stop_gained,p.Trp254Ter,ENST00000449720,;KIAA1432,stop_gained,p.Trp262Ter,ENST00000545641,;KIAA1432,stop_gained,p.Trp254Ter,ENST00000381532,;KIAA1432,non_coding_transcript_exon_variant,,ENST00000276898,;							HIGH	998/4272	W333*	RIC1_HUMAN			Transcript			.	ENSP00000416696		CCDS34982.2			1	
NBAS	0	LGGM	GRCh37	2	15506808	15506808	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	48	10	.	.	ENST00000281513.5:c.3713G>C	p.Cys1238Ser	p.C1238S	ENST00000281513	NM_015909.3	1238	tGc/tCc	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		58	1.445		HGNC	p.C1238S		NBAS		SNV			1				ENST00000281513	protein_coding	getma.org/?cm=var&var=hg19,2,15506808,C,G&fts=all		Pfam_domain:PF08314,hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		C/S		G	low	3739/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=725&re=1379&var=C1238S	tolerated(0.33)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.Cys1238Ser,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Cys1118Ser,ENST00000441750,;NBAS,missense_variant,p.Cys286Ser,ENST00000442506,;							MODERATE	3713/7116	C1238S	NBAS_HUMAN			Transcript		benign(0.07)	.	ENSP00000281513		CCDS1685.1			1	
CPA2	0	LGGM	GRCh37	7	129910555	129910555	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	38	10	.	.	ENST00000222481.4:c.311A>T	p.Glu104Val	p.E104V	ENST00000222481	NM_001869.2	104	gAa/gTa	0	1	1	UPI00005A7711	0	getma.org/pdb.php?prot=CBPA2_HUMAN&from=104&to=128&var=E104V	ENST00000222481		ENSG00000158516	2297		48	1.7		HGNC	p.E102V		CPA2		SNV							ENST00000416698	protein_coding	getma.org/?cm=var&var=hg19,7,129910555,A,T&fts=all		hmmpanther:PTHR11705:SF50,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Superfamily_domains:SSF54897		E/V		T	low	366/1366		getma.org/?cm=msa&ty=f&p=CBPA2_HUMAN&rb=74&re=158&var=E104V	deleterious(0.01)				YES	CPA2,missense_variant,p.Glu104Val,ENST00000222481,NM_001869.2;CPA2,missense_variant,p.Glu102Val,ENST00000416698,;CPA2,non_coding_transcript_exon_variant,,ENST00000487259,;CPA2,non_coding_transcript_exon_variant,,ENST00000480781,;							MODERATE	311/1260	E104V	CBPA2_HUMAN			Transcript		benign(0.012)	.	ENSP00000222481		CCDS5817.2			1	
NEB	0	LGGM	GRCh37	2	152427101	152427101	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	38	10	.	.	ENST00000397345.3:c.17028G>A	p.Glu5676=	p.E5676=	ENST00000397345	NM_001164508.1	5676	gaG/gaA	0	1		UPI0000212787	0		ENST00000172853		ENSG00000183091	7720		48			HGNC	p.E3975E		NEB		SNV			1				ENST00000409198	protein_coding			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		E		T		12073/20577				J3QK84_HUMAN				NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;NEB,synonymous_variant,p.=,ENST00000413693,;							LOW	11925/20010					Transcript			.	ENSP00000172853					1	
CLCC1	0	LGGM	GRCh37	1	109479792	109479792	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	85	10	.	.	ENST00000369971.2:c.1290G>C	p.Leu430Phe	p.L430F	ENST00000369971	NM_001048210.2	430	ttG/ttC	0	1		UPI0000073C42	0	NA	ENST00000356970		ENSG00000121940	29675		95	1.935		HGNC	p.L245F	rs750220315	CLCC1		SNV							ENST00000369968	protein_coding	getma.org/?cm=var&var=hg19,1,109479792,C,G&fts=all		Pfam_domain:PF05934		L/F		G	medium	1398/4803		getma.org/?cm=msa&ty=f&p=CLCC1_HUMAN&rb=3&re=551&var=L430F	tolerated(0.11)					CLCC1,missense_variant,p.Leu430Phe,ENST00000369971,NM_001048210.2;CLCC1,missense_variant,p.Leu430Phe,ENST00000356970,;CLCC1,missense_variant,p.Leu380Phe,ENST00000415331,NM_015127.4;CLCC1,missense_variant,p.Leu309Phe,ENST00000369969,NM_001278202.1;CLCC1,missense_variant,p.Leu245Phe,ENST00000369968,NM_001278203.1;CLCC1,missense_variant,p.Leu380Phe,ENST00000369970,;CLCC1,missense_variant,p.Leu309Phe,ENST00000302500,;CLCC1,missense_variant,p.Leu245Phe,ENST00000348264,;CLCC1,intron_variant,,ENST00000369976,;AKNAD1,intron_variant,,ENST00000357393,;GPSM2,downstream_gene_variant,,ENST00000406462,;CLCC1,intron_variant,,ENST00000482889,;CLCC1,intron_variant,,ENST00000473062,;							MODERATE	1290/1656	L430F	CLCC1_HUMAN			Transcript		benign(0.126)	.	ENSP00000349456		CCDS41362.1			1	
ANGPT4	0	LGGM	GRCh37	20	855027	855027	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	15	10	.	.	ENST00000381922.3:c.1251A>T	p.Ala417=	p.A417=	ENST00000381922	NM_015985.2	417	gcA/gcT	0	1	1	UPI0000062232	0		ENST00000381922		ENSG00000101280	487		25			HGNC	p.A417A		ANGPT4		SNV							ENST00000381922	protein_coding			Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF31,SMART_domains:SM00186,Superfamily_domains:SSF56496		A		A		1354/1922							YES	ANGPT4,synonymous_variant,p.=,ENST00000381922,NM_015985.2;ANGPT4,intron_variant,,ENST00000546022,;							LOW	1251/1512		ANGP4_HUMAN			Transcript			.	ENSP00000371347		CCDS13009.1			1	
PCDH1	0	LGGM	GRCh37	5	141248345	141248345	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	10	.	.	ENST00000287008.3:c.692A>T	p.Gln231Leu	p.Q231L	ENST00000287008	NM_032420.3	231	cAg/cTg	0	1		UPI0000074735	0	getma.org/pdb.php?prot=PCDH1_HUMAN&from=173&to=271&var=Q231L	ENST00000394536		ENSG00000156453	8655		28	1.625		HGNC	p.Q231L		PCDH1		SNV							ENST00000287008	protein_coding	getma.org/?cm=var&var=hg19,5,141248345,T,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		Q/L		A	low	832/3819		getma.org/?cm=msa&ty=f&p=PCDH1_HUMAN&rb=173&re=271&var=Q231L	deleterious(0)	F5H3L5_HUMAN,D6RBG2_HUMAN				PCDH1,missense_variant,p.Gln231Leu,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Gln231Leu,ENST00000394536,NM_002587.4,NM_001278615.1;PCDH1,missense_variant,p.Gln219Leu,ENST00000456271,;PCDH1,missense_variant,p.Gln242Leu,ENST00000357517,;PCDH1,missense_variant,p.Gln209Leu,ENST00000536585,NM_001278613.1;PCDH1,missense_variant,p.Gln231Leu,ENST00000503492,;PCDH1,downstream_gene_variant,,ENST00000514773,;PCDH1,upstream_gene_variant,,ENST00000511044,;PCDH1,missense_variant,p.Gln35Leu,ENST00000505937,;PCDH1,upstream_gene_variant,,ENST00000515351,;							MODERATE	692/3183	Q231L	PCDH1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000378043		CCDS43375.1			1	
SMARCA4	0	LGGM	GRCh37	19	11144854	11144854	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	13	10	.	.	ENST00000344626.4:c.3929A>T	p.Glu1310Val	p.E1310V	ENST00000344626	NM_003072.3	1310	gAg/gTg	0	1		UPI000006F973	0	NA	ENST00000344626		ENSG00000127616	11100		23	3.785		HGNC	p.E1277V		SMARCA4		SNV			1				ENST00000450717	protein_coding	getma.org/?cm=var&var=hg19,19,11144854,A,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76		E/V		T	high	4134/5392		getma.org/?cm=msa&ty=f&p=SMCA4_HUMAN&rb=1195&re=1394&var=E1310V		B4DSI8_HUMAN,A7E2E1_HUMAN				SMARCA4,missense_variant,p.Glu1310Val,ENST00000358026,NM_001128849.1;SMARCA4,missense_variant,p.Glu1310Val,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Glu1310Val,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Glu1277Val,ENST00000413806,NM_001128845.1,NM_001128847.1;SMARCA4,missense_variant,p.Glu1277Val,ENST00000450717,NM_001128846.1,NM_001128848.1;SMARCA4,missense_variant,p.Glu1277Val,ENST00000590574,;SMARCA4,missense_variant,p.Glu1277Val,ENST00000589677,;SMARCA4,missense_variant,p.Glu1277Val,ENST00000541122,;SMARCA4,missense_variant,p.Glu1277Val,ENST00000444061,;SMARCA4,intron_variant,,ENST00000592158,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000538456,;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,,ENST00000591545,;SMARCA4,downstream_gene_variant,,ENST00000586892,;							MODERATE	3929/4944	E1310V	SMCA4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000343896		CCDS12253.1			1	
NBL1	0	LGGM	GRCh37	1	19981825	19981825	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	29	10	.	.	ENST00000289749.2:c.284T>A	p.Leu95Gln	p.L95Q	ENST00000289749	NM_182744.3	95	cTa/cAa	0	1		UPI0000071C54	0	NA	ENST00000375136		ENSG00000158747	7650		39	1.7		HGNC	p.L94Q		NBL1		SNV							ENST00000439278	protein_coding	getma.org/?cm=var&var=hg19,1,19981825,T,A&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF03045,PIRSF_domain:PIRSF018557,hmmpanther:PTHR15283,hmmpanther:PTHR15283:SF1,SMART_domains:SM00041		L/Q		A	low	482/2172		getma.org/?cm=msa&ty=f&p=NBL1_HUMAN&rb=8&re=125&var=L59Q	deleterious(0)	R4GMY4_HUMAN,E5RFZ1_HUMAN,A3KFI5_HUMAN,A3KFI4_HUMAN,A3KFI3_HUMAN,A3KFI2_HUMAN				NBL1,missense_variant,p.Leu60Gln,ENST00000375136,NM_005380.7,NM_001278166.1,NM_001278164.1,NM_001204085.1;NBL1,missense_variant,p.Leu59Gln,ENST00000548815,NM_001204086.2,NM_001204084.2,NM_001204088.1,NM_001278166.1,NM_001278165.1,NM_001278164.1,NM_001204085.1;MINOS1-NBL1,missense_variant,p.Leu60Gln,ENST00000602662,NM_001204089.1;MINOS1-NBL1,missense_variant,p.Leu60Gln,ENST00000602293,;NBL1,missense_variant,p.Leu95Gln,ENST00000289749,NM_182744.3;NBL1,missense_variant,p.Leu60Gln,ENST00000451758,;NBL1,missense_variant,p.Leu60Gln,ENST00000439664,;NBL1,missense_variant,p.Leu59Gln,ENST00000427894,;NBL1,missense_variant,p.Leu94Gln,ENST00000439278,;NBL1,missense_variant,p.Leu60Gln,ENST00000428975,;NBL1,missense_variant,p.Leu60Gln,ENST00000425400,;MINOS1-NBL1,3_prime_UTR_variant,,ENST00000602384,;MINOS1-NBL1,3_prime_UTR_variant,,ENST00000602450,;							MODERATE	179/546	L59Q	NBL1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000364278		CCDS196.2			1	
OBSCN	0	LGGM	GRCh37	1	228497221	228497221	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	55	10	.	.	ENST00000570156.2:c.15844G>A	p.Val5282Met	p.V5282M	ENST00000570156	NM_001271223.2	5282	Gtg/Atg	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=4250&to=4337&var=V4325M	ENST00000422127		ENSG00000154358	15719		65	2.62		HGNC	p.V4325M	rs746674168,COSM1473534,COSM1473535,COSM1473533	OBSCN	6.06E-05	SNV						0,1,1,1	ENST00000422127	protein_coding	getma.org/?cm=var&var=hg19,1,228497221,G,A&fts=all		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		V/M		A	medium	13017/24030	1.50E-05	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=4250&re=4337&var=V4325M						OBSCN,missense_variant,p.Val5282Met,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Val1959Met,ENST00000366707,;OBSCN,missense_variant,p.Val4325Met,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Val4325Met,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Val1444Met,ENST00000366709,;	0.000116				0,1,1,1		MODERATE	12973/23907	V4325M	OBSCN_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000409493	2.48E-05	CCDS58065.1			1	
PTPN7	0	LGGM	GRCh37	1	202127440	202127440	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	10	.	.	ENST00000309017.3:c.438-11T>A		*146*	ENST00000309017	NM_001199797.1			0	1		UPI000013296B	0		ENST00000495688		ENSG00000143851	9659		24			HGNC	p.L44Q		PTPN7		SNV							ENST00000435759	nonsense_mediated_decay							T		-/2689				E9PE54_HUMAN,E7EUM0_HUMAN,C9JBA9_HUMAN,B4DX06_HUMAN,B4DDG6_HUMAN				PTPN7,missense_variant,p.Leu44Gln,ENST00000435759,;PTPN7,intron_variant,,ENST00000309017,NM_001199797.1,NM_002832.3;PTPN7,intron_variant,,ENST00000367279,NM_080588.2;PTPN7,intron_variant,,ENST00000308986,;PTPN7,intron_variant,,ENST00000477554,;PTPN7,intron_variant,,ENST00000543735,;PTPN7,intron_variant,,ENST00000544762,;PTPN7,intron_variant,,ENST00000477625,;PTPN7,intron_variant,,ENST00000467283,;PTPN7,intron_variant,,ENST00000492451,;PTPN7,intron_variant,,ENST00000486116,;PTPN7,intron_variant,,ENST00000476061,;PTPN7,intron_variant,,ENST00000464870,;PTPN7,non_coding_transcript_exon_variant,,ENST00000492977,;PTPN7,intron_variant,,ENST00000479092,;PTPN7,intron_variant,,ENST00000495688,;PTPN7,intron_variant,,ENST00000496197,;PTPN7,intron_variant,,ENST00000480836,;PTPN7,intron_variant,,ENST00000462815,;PTPN7,intron_variant,,ENST00000491584,;PTPN7,downstream_gene_variant,,ENST00000468385,;							MODIFIER	-/1083		PTN7_HUMAN			Transcript			.	ENSP00000420506					1	
EEIG1	0	LGGM	GRCh37	9	130712820	130712820	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	3	11	.	.	ENST00000373095.1:c.298-2A>C		p.X100_splice	ENST00000373095	NM_001035254.2			0	1	1	UPI00005D3C96	0		ENST00000373095		ENSG00000167106	31419		14			HGNC	-		FAM102A		SNV							ENST00000373095	protein_coding							G		-/4144							YES	FAM102A,splice_acceptor_variant,,ENST00000373095,NM_001035254.2;FAM102A,5_prime_UTR_variant,,ENST00000373084,NM_203305.2;FAM102A,splice_acceptor_variant,,ENST00000479828,;FAM102A,non_coding_transcript_exon_variant,,ENST00000300434,;FAM102A,downstream_gene_variant,,ENST00000493175,;FAM102A,upstream_gene_variant,,ENST00000465821,;							HIGH	298/1155		F102A_HUMAN			Transcript			.	ENSP00000362187		CCDS35150.1			1	
TAPT1	0	LGGM	GRCh37	4	16204142	16204142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	45	11	.	.	ENST00000405303.2:c.392C>A	p.Pro131His	p.P131H	ENST00000405303	NM_153365.2	131	cCt/cAt	0	1	1	UPI0000253B29	0	NA	ENST00000405303		ENSG00000169762	26887		56	2.905		HGNC	p.P20H		TAPT1		SNV							ENST00000399920	protein_coding	getma.org/?cm=var&var=hg19,4,16204142,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4		P/H		T	medium	476/4591		getma.org/?cm=msa&ty=f&p=TAPT1_HUMAN&rb=1&re=150&var=P131H	deleterious(0)	B4DJJ3_HUMAN			YES	TAPT1,missense_variant,p.Pro131His,ENST00000405303,NM_153365.2;TAPT1,missense_variant,p.Pro20His,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.Pro22His,ENST00000513833,;TAPT1,synonymous_variant,p.=,ENST00000505603,;TAPT1,intron_variant,,ENST00000505317,;							MODERATE	392/1704	P131H	TAPT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385347		CCDS47030.1			1	
IL20RA	0	LGGM	GRCh37	6	137338105	137338105	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	40	11	.	.	ENST00000316649.5:c.224T>A	p.Ile75Lys	p.I75K	ENST00000316649	NM_014432.3	75	aTa/aAa	0	1	1	UPI000006FA41	0	getma.org/pdb.php?prot=I20RA_HUMAN&from=12&to=123&var=I75K	ENST00000316649		ENSG00000016402	6003		51	1.765		HGNC	p.I26K		IL20RA		SNV							ENST00000541547	protein_coding	getma.org/?cm=var&var=hg19,6,137338105,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR20859:SF21,hmmpanther:PTHR20859,Pfam_domain:PF01108,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		I/K		T	low	460/3485		getma.org/?cm=msa&ty=f&p=I20RA_HUMAN&rb=12&re=123&var=I75K	deleterious(0)	F5H675_HUMAN			YES	IL20RA,missense_variant,p.Ser24Thr,ENST00000367748,NM_001278723.1,NM_001278724.1;IL20RA,missense_variant,p.Ile75Lys,ENST00000316649,NM_014432.3;IL20RA,missense_variant,p.Ile26Lys,ENST00000541547,NM_001278722.1;IL20RA,missense_variant,p.Ile75Lys,ENST00000367746,;IL20RA,splice_region_variant,,ENST00000468393,;							MODERATE	224/1662	I75K	I20RA_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000314976		CCDS5181.1			1	
CPQ	0	LGGM	GRCh37	8	97978242	97978242	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	10	11	.	.	ENST00000220763.5:c.929C>A	p.Ser310Ter	p.S310*	ENST00000220763	NM_016134.3	310	tCa/tAa	0	1	1	UPI00000706B8	0	NA	ENST00000220763		ENSG00000104324	16910		21	0		HGNC	p.S310X		CPQ		SNV							ENST00000220763	protein_coding	getma.org/?cm=var&var=hg19,8,97978242,C,A&fts=all		Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR12053		S/*		A	NA	1139/1947		NA		E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN			YES	CPQ,stop_gained,p.Ser310Ter,ENST00000220763,NM_016134.3;							HIGH	929/1419	S310*	CBPQ_HUMAN			Transcript			.	ENSP00000220763		CCDS6273.1			1	
DENND1B	0	LGGM	GRCh37	1	197482038	197482038	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	36	11	.	.	ENST00000391979.2:c.481G>A	p.Asp161Asn	p.D161N	ENST00000391979	NM_001195215.1	161	Gat/Aat	0	1	1	UPI0001881B37	0	NA	ENST00000391979		ENSG00000213047	28404		47	0.755		HGNC	p.D161N		DENND1B		SNV							ENST00000391979	protein_coding	getma.org/?cm=var&var=hg19,1,197482038,C,T&fts=all		hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF24,Low_complexity_(Seg):seg		D/N		T	neutral	481/6960		getma.org/?cm=msa&ty=f&p=H0YGP6_HUMAN&rb=401&re=600&var=D521N	tolerated(0.14)					DENND1B,missense_variant,p.Asp161Asn,ENST00000391979,NM_001195215.1;DENND1B,3_prime_UTR_variant,,ENST00000294737,;							MODERATE	481/1248	D521N				Transcript		benign(0.363)	.	ENSP00000375839					1	
INSRR	0	LGGM	GRCh37	1	156828342	156828342	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	60	11	.	.	ENST00000368195.3:c.72G>A	p.Leu24=	p.L24=	ENST00000368195	NM_014215.2	24	ctG/ctA	0	1	1	UPI000012D8BD	0		ENST00000368195		ENSG00000027644	6093		71			HGNC	p.L24L		INSRR		SNV							ENST00000368195	protein_coding			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,PIRSF_domain:PIRSF000620		L		T		469/5101				I6U4P1_HUMAN			YES	INSRR,synonymous_variant,p.=,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,upstream_gene_variant,,ENST00000368196,NM_001012331.1;NTRK1,upstream_gene_variant,,ENST00000358660,;NTRK1,upstream_gene_variant,,ENST00000524377,NM_002529.3;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;NTRK1,upstream_gene_variant,,ENST00000533630,;							LOW	72/3894		INSRR_HUMAN			Transcript			.	ENSP00000357178		CCDS1160.1			1	
OR7G3	0	LGGM	GRCh37	19	9237224	9237224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	11	.	.	ENST00000305444.2:c.403A>G	p.Ile135Val	p.I135V	ENST00000305444	NM_001001958.1	135	Atc/Gtc	0	1	1	UPI0000041C0E	0	getma.org/pdb.php?prot=OR7G3_HUMAN&from=1&to=138&var=I135V	ENST00000305444		ENSG00000170920	8467		31	2.255		HGNC	p.I135V		OR7G3		SNV							ENST00000305444	protein_coding	getma.org/?cm=var&var=hg19,19,9237224,T,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF20,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		I/V		C	medium	403/939		getma.org/?cm=msa&ty=f&p=OR7G3_HUMAN&rb=1&re=138&var=I135V	deleterious(0.03)				YES	OR7G3,missense_variant,p.Ile135Val,ENST00000305444,NM_001001958.1;							MODERATE	403/939	I135V	OR7G3_HUMAN			Transcript		benign(0.089)	.	ENSP00000302867		CCDS32899.1			1	
TTF1	0	LGGM	GRCh37	9	135278144	135278144	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	29	11	.	.	ENST00000334270.2:c.65G>T	p.Cys22Phe	p.C22F	ENST00000334270	NM_001205296.1	22	tGt/tTt	0	1	1	UPI00001B55A7	0	NA	ENST00000334270		ENSG00000125482	12397		40	0		HGNC	p.C22F		TTF1		SNV							ENST00000334270	protein_coding	getma.org/?cm=var&var=hg19,9,135278144,C,A&fts=all				C/F		A	neutral	105/3052		getma.org/?cm=msa&ty=f&p=TTF1_HUMAN&rb=1&re=489&var=C22F	tolerated(0.46)				YES	TTF1,missense_variant,p.Cys22Phe,ENST00000334270,NM_001205296.1,NM_007344.3;							MODERATE	65/2718	C22F	TTF1_HUMAN			Transcript		benign(0)	.	ENSP00000333920		CCDS6948.1			1	
OR10H5	0	LGGM	GRCh37	19	15905309	15905309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	26	12	.	.	ENST00000308940.8:c.451G>T	p.Gly151Cys	p.G151C	ENST00000308940	NM_001004466.1	151	Ggt/Tgt	0	1	1	UPI0000041C8F	0	NA	ENST00000308940		ENSG00000172519	15389		38	0.575		HGNC	p.G151C		OR10H5		SNV							ENST00000308940	protein_coding	getma.org/?cm=var&var=hg19,19,15905309,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		G/C		T	neutral	549/1132		getma.org/?cm=msa&ty=f&p=O10H5_HUMAN&rb=139&re=284&var=G151C	tolerated(0.21)				YES	OR10H5,missense_variant,p.Gly151Cys,ENST00000308940,NM_001004466.1;							MODERATE	451/948	G151C	O10H5_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000310704		CCDS32940.1			1	
TMEM98	0	LGGM	GRCh37	17	31263397	31263397	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	92	12	.	.	ENST00000579849.1:c.345T>A	p.Ser115=	p.S115=	ENST00000579849	NM_015544.2	115	tcT/tcA	0	1		UPI00000361DE	0		ENST00000394642		ENSG00000006042	24529		104			HGNC	p.S115S		TMEM98		SNV			1				ENST00000261713	protein_coding			Pfam_domain:PF13324,hmmpanther:PTHR32510		S		A		727/1683				J3QS57_HUMAN,J3QLG7_HUMAN,C9J6Q8_HUMAN,C9J3Y0_HUMAN				TMEM98,synonymous_variant,p.=,ENST00000579849,NM_015544.2;TMEM98,synonymous_variant,p.=,ENST00000394642,NM_001033504.1;TMEM98,synonymous_variant,p.=,ENST00000439138,;TMEM98,synonymous_variant,p.=,ENST00000261713,;TMEM98,synonymous_variant,p.=,ENST00000395149,;TMEM98,synonymous_variant,p.=,ENST00000578289,;TMEM98,downstream_gene_variant,,ENST00000583437,;TMEM98,non_coding_transcript_exon_variant,,ENST00000583120,;TMEM98,downstream_gene_variant,,ENST00000582227,;							LOW	345/681		TMM98_HUMAN			Transcript			.	ENSP00000378138		CCDS11274.1			1	
KALRN	0	LGGM	GRCh37	3	124044968	124044968	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	40	12	.	.	ENST00000240874.3:c.1228C>A	p.Arg410Ser	p.R410S	ENST00000240874	NM_003947.4	410	Cgc/Agc	0	1	1	UPI000012C095	0	getma.org/pdb.php?prot=KALRN_HUMAN&from=310&to=416&var=R410S	ENST00000240874		ENSG00000160145	4814		52	2.585		HGNC	p.R410S		KALRN		SNV			1				ENST00000460856	protein_coding	getma.org/?cm=var&var=hg19,3,124044968,C,A&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/S		A	medium	1385/6537		getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=310&re=416&var=R410S	deleterious(0)				YES	KALRN,missense_variant,p.Arg410Ser,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Arg388Ser,ENST00000354186,;KALRN,missense_variant,p.Arg410Ser,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Arg410Ser,ENST00000460856,;KALRN,downstream_gene_variant,,ENST00000498499,;							MODERATE	1228/4992	R410S	KALRN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000240874		CCDS3027.1			1	
PABPC5	0	LGGM	GRCh37	X	90691241	90691241	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	9	12	.	.	ENST00000312600.3:c.665A>T	p.Tyr222Phe	p.Y222F	ENST00000312600	NM_080832.2	222	tAt/tTt	0	1	1	UPI0000087790	0	getma.org/pdb.php?prot=PABP5_HUMAN&from=201&to=270&var=Y222F	ENST00000312600		ENSG00000174740	13629		21	-0.07		HGNC	p.Y222F		PABPC5		SNV							ENST00000312600	protein_coding	getma.org/?cm=var&var=hg19,X,90691241,A,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		Y/F		T	neutral	879/3221		getma.org/?cm=msa&ty=f&p=PABP5_HUMAN&rb=201&re=270&var=Y222F	tolerated(1)	Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,missense_variant,p.Tyr222Phe,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Tyr58Phe,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;							MODERATE	665/1149	Y222F	PABP5_HUMAN			Transcript		benign(0.387)	.	ENSP00000308012		CCDS14460.1			1	
PXDN	0	LGGM	GRCh37	2	1652392	1652392	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	13	12	.	.	ENST00000252804.4:c.3160G>A	p.Asp1054Asn	p.D1054N	ENST00000252804	NM_012293.1	1054	Gac/Aac	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=741&to=1289&var=D1054N	ENST00000252804		ENSG00000130508	14966		25	0.89		HGNC	p.D1054N	rs765019551	PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1652392,C,T&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		D/N		T	low	3211/6808	1.66E-05	getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=741&re=1289&var=D1054N	tolerated(0.4)				YES	PXDN,missense_variant,p.Asp1054Asn,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;							MODERATE	3160/4440	D1054N	PXDN_HUMAN			Transcript		benign(0.078)	.	ENSP00000252804	8.24E-06	CCDS46221.1			1	
BACH2	0	LGGM	GRCh37	6	90660828	90660828	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	8	12	.	.	ENST00000257749.4:c.997A>T	p.Arg333Trp	p.R333W	ENST00000257749	NM_021813.2	333	Agg/Tgg	0	1	1	UPI000004F8AD	0	NA	ENST00000257749		ENSG00000112182	14078		20	0.345		HGNC	p.R333W		BACH2		SNV							ENST00000343122	protein_coding	getma.org/?cm=var&var=hg19,6,90660828,T,A&fts=all				R/W		A	neutral	1705/9113		getma.org/?cm=msa&ty=f&p=BACH2_HUMAN&rb=149&re=596&var=R333W	deleterious(0)	S0BE05_HUMAN,S0BDZ6_HUMAN,S0BDY5_HUMAN,Q7Z6Q0_HUMAN			YES	BACH2,missense_variant,p.Arg333Trp,ENST00000257749,NM_021813.2;BACH2,missense_variant,p.Arg333Trp,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Arg333Trp,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;							MODERATE	997/2526	R333W	BACH2_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000257749		CCDS5026.1			1	
IL10RA	0	LGGM	GRCh37	11	117869978	117869978	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	16	12	.	.	ENST00000227752.3:c.1359T>A	p.Ala453=	p.A453=	ENST00000227752	NM_001558.3	453	gcT/gcA	0	1	1	UPI000013C8BF	0		ENST00000227752		ENSG00000110324	5964		28			HGNC	p.A453A		IL10RA		SNV			1				ENST00000227752	protein_coding			hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF43		A		A		1479/3695				F5H5Y4_HUMAN			YES	IL10RA,synonymous_variant,p.=,ENST00000227752,NM_001558.3;IL10RA,synonymous_variant,p.=,ENST00000541785,;IL10RA,synonymous_variant,p.=,ENST00000545409,;IL10RA,non_coding_transcript_exon_variant,,ENST00000533700,;IL10RA,3_prime_UTR_variant,,ENST00000534574,;IL10RA,3_prime_UTR_variant,,ENST00000526544,;IL10RA,non_coding_transcript_exon_variant,,ENST00000529924,;IL10RA,non_coding_transcript_exon_variant,,ENST00000530761,;IL10RA,non_coding_transcript_exon_variant,,ENST00000525467,;IL10RA,downstream_gene_variant,,ENST00000530178,;							LOW	1359/1737		I10R1_HUMAN			Transcript			.	ENSP00000227752		CCDS8388.1			1	
FAT1	0	LGGM	GRCh37	4	187524980	187524997	+	inframe_deletion	In_Frame_Del	DEL	ATCTTCCCAATGACGCCA	ATCTTCCCAATGACGCCA	-	novel	by Submitter	H061350	H061350N.bam	ATCTTCCCAATGACGCCA	ATCTTCCCAATGACGCCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	36	12	.	.	ENST00000441802.2:c.10683_10700del	p.Gly3562_Ile3567del	p.G3562_I3567del	ENST00000441802	NM_005245.3	3561	ggTGGCGTCATTGGGAAGATc/ggc	0	1	1	UPI000051946B	0		ENST00000441802		ENSG00000083857	3595		48			HGNC	p.3561_3567del		FAT1		deletion							ENST00000441802	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		GGVIGKI/G		-		10893-10910/14786				D6RCE4_HUMAN			YES	FAT1,inframe_deletion,p.Gly3562_Ile3567del,ENST00000441802,NM_005245.3;FAT1,upstream_gene_variant,,ENST00000503253,;							MODERATE	10683-10700/13767		FAT1_HUMAN			Transcript			.	ENSP00000406229		CCDS47177.1			1	
SOX13	0	LGGM	GRCh37	1	204091986	204091986	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	19	13	.	.	ENST00000367204.1:c.1029C>T	p.Phe343=	p.F343=	ENST00000367204	NM_005686.2	343	ttC/ttT	0	1	1	UPI000034ECAB	0		ENST00000367204		ENSG00000143842	11192		32			HGNC	p.F343F		SOX13		SNV							ENST00000367204	protein_coding			hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF109		F		T		1138/3579				E9PPW0_HUMAN,E9PKD6_HUMAN,B4E3N9_HUMAN			YES	SOX13,synonymous_variant,p.=,ENST00000367204,NM_005686.2;SOX13,non_coding_transcript_exon_variant,,ENST00000272193,;SOX13,downstream_gene_variant,,ENST00000367203,;SOX13,3_prime_UTR_variant,,ENST00000480326,;SOX13,non_coding_transcript_exon_variant,,ENST00000525258,;							LOW	1029/1869		SOX13_HUMAN			Transcript			.	ENSP00000356172		CCDS44299.1			1	
BPIFB3	0	LGGM	GRCh37	20	31652266	31652266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	9	13	.	.	ENST00000375494.3:c.656T>A	p.Leu219Gln	p.L219Q	ENST00000375494	NM_182658.1	219	cTg/cAg	0	1	1	UPI00001B2207	0	NA	ENST00000375494		ENSG00000186190	16178		22	2.39		HGNC	p.L219Q		BPIFB3		SNV							ENST00000375494	protein_coding	getma.org/?cm=var&var=hg19,20,31652266,T,A&fts=all		Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF42,Low_complexity_(Seg):seg,SMART_domains:SM00328,Superfamily_domains:SSF55394		L/Q		A	medium	656/1454		getma.org/?cm=msa&ty=f&p=BPIB3_HUMAN&rb=201&re=400&var=L219Q	deleterious(0.05)				YES	BPIFB3,missense_variant,p.Leu219Gln,ENST00000375494,NM_182658.1;							MODERATE	656/1431	L219Q	BPIB3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364643		CCDS13212.1			1	
TMEM190	0	LGGM	GRCh37	19	55888983	55888983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	13	.	.	ENST00000291934.3:c.117C>A	p.Asp39Glu	p.D39E	ENST00000291934	NM_139172.1	39	gaC/gaA	0	1	1	UPI000006F8C2	0	NA	ENST00000291934		ENSG00000160472	29632		33	0.805		HGNC	p.D39E		TMEM190		SNV							ENST00000291934	protein_coding	getma.org/?cm=var&var=hg19,19,55888983,C,A&fts=all		Superfamily_domains:SSF57492,Pfam_domain:PF15431,Gene3D:4.10.110.10		D/E		A	low	135/593		getma.org/?cm=msa&ty=f&p=TM190_HUMAN&rb=1&re=176&var=D39E	tolerated(0.08)				YES	TMEM190,missense_variant,p.Asp39Glu,ENST00000291934,NM_139172.1;TMEM238,downstream_gene_variant,,ENST00000444469,NM_001190764.1;CTD-2105E13.15,non_coding_transcript_exon_variant,,ENST00000595064,;							MODERATE	117/534	D39E	TM190_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000291934		CCDS33113.1			1	
KIAA1462	0	LGGM	GRCh37	10	30317898	30317898	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	31	14	.	.	ENST00000375377.1:c.1179T>A	p.Thr393=	p.T393=	ENST00000375377	NM_020848.2	393	acT/acA	0	1	1	UPI00001D8117	0		ENST00000375377		ENSG00000165757	29283		45			HGNC	p.T393T		KIAA1462		SNV							ENST00000375377	protein_coding			Pfam_domain:PF15351		T		T		1281/9265							YES	KIAA1462,synonymous_variant,p.=,ENST00000375377,NM_020848.2;							LOW	1179/4080		JCAD_HUMAN			Transcript			.	ENSP00000364526		CCDS41500.1			1	
REG1B	0	LGGM	GRCh37	2	79313960	79313960	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	66	14	.	.	ENST00000305089.3:c.161C>A	p.Pro54His	p.P54H	ENST00000305089	NM_006507.3	54	cCt/cAt	0	1	1	UPI00000012AB	0	getma.org/pdb.php?prot=REG1B_HUMAN&from=53&to=164&var=P54H	ENST00000305089		ENSG00000172023	9952		80	0.655		HGNC	p.P5H		REG1B		SNV							ENST00000454188	protein_coding	getma.org/?cm=var&var=hg19,2,79313960,G,T&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF31,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		P/H		T	neutral	242/767		getma.org/?cm=msa&ty=f&p=REG1B_HUMAN&rb=53&re=164&var=P54H	tolerated(0.1)	Q6ICS1_HUMAN			YES	REG1B,missense_variant,p.Pro54His,ENST00000305089,NM_006507.3;REG1B,missense_variant,p.Pro5His,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,non_coding_transcript_exon_variant,,ENST00000476554,;REG1B,downstream_gene_variant,,ENST00000469052,;							MODERATE	161/501	P54H	REG1B_HUMAN			Transcript		benign(0)	.	ENSP00000303206		CCDS1963.1			1	
ALDOA	0	LGGM	GRCh37	16	30078834	30078834	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	14	.	.	ENST00000395248.1:c.338A>G	p.Tyr113Cys	p.Y113C	ENST00000395248		113	tAc/tGc	0	1		UPI0000000C5D	0	getma.org/pdb.php?prot=ALDOA_HUMAN&from=15&to=364&var=Y59C	ENST00000338110		ENSG00000149925	414		28	3.93		HGNC	p.Y59C		ALDOA		SNV			1				ENST00000563060	protein_coding	getma.org/?cm=var&var=hg19,16,30078834,A,G&fts=all		Superfamily_domains:SSF51569,Pfam_domain:PF00274,Gene3D:3.20.20.70,hmmpanther:PTHR11627		Y/C		G	high	1263/2384		getma.org/?cm=msa&ty=f&p=ALDOA_HUMAN&rb=15&re=364&var=Y59C	deleterious(0)	H3BUH7_HUMAN,A4UCS9_HUMAN				ALDOA,missense_variant,p.Tyr59Cys,ENST00000566897,;ALDOA,missense_variant,p.Tyr113Cys,ENST00000395248,;ALDOA,missense_variant,p.Tyr59Cys,ENST00000338110,NM_000034.3;ALDOA,missense_variant,p.Tyr59Cys,ENST00000564546,;ALDOA,missense_variant,p.Tyr113Cys,ENST00000564595,NM_001243177.1;ALDOA,missense_variant,p.Tyr59Cys,ENST00000412304,NM_001127617.2;ALDOA,missense_variant,p.Tyr59Cys,ENST00000563060,NM_184043.2;ALDOA,missense_variant,p.Tyr59Cys,ENST00000569798,;ALDOA,missense_variant,p.Tyr59Cys,ENST00000395240,NM_184041.2;ALDOA,missense_variant,p.Tyr59Cys,ENST00000569545,;ALDOA,missense_variant,p.Tyr113Cys,ENST00000562679,;ALDOA,missense_variant,p.Tyr48Cys,ENST00000562168,;ALDOA,missense_variant,p.Tyr4Cys,ENST00000564688,;ALDOA,missense_variant,p.Tyr59Cys,ENST00000563987,;ALDOA,missense_variant,p.Tyr48Cys,ENST00000566846,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,upstream_gene_variant,,ENST00000565355,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566012,;ALDOA,downstream_gene_variant,,ENST00000575627,;ALDOA,downstream_gene_variant,,ENST00000562240,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000567555,;ALDOA,upstream_gene_variant,,ENST00000566130,;ALDOA,downstream_gene_variant,,ENST00000562302,;ALDOA,upstream_gene_variant,,ENST00000566146,;							MODERATE	176/1095	Y59C	ALDOA_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000336927		CCDS10668.1			1	
SLITRK5	0	LGGM	GRCh37	13	88328924	88328924	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	14	.	.	ENST00000325089.6:c.1281A>T	p.Thr427=	p.T427=	ENST00000325089	NM_015567.1	427	acA/acT	0	1	1	UPI000015F6F7	0		ENST00000325089		ENSG00000165300	20295		28			HGNC	p.T186T	rs528857665	SLITRK5		SNV				9.64E-05			ENST00000400028	protein_coding		T:0.0008	Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,Superfamily_domains:SSF52058		T		T		1500/4447					T:0	T:0	YES	SLITRK5,synonymous_variant,p.=,ENST00000325089,NM_015567.1;SLITRK5,synonymous_variant,p.=,ENST00000400028,;		T:0.0002					LOW	1281/2877		SLIK5_HUMAN		T:0	Transcript			.	ENSP00000366283	8.24E-06	CCDS9465.1		T:0	1	
CCSER2	0	LGGM	GRCh37	10	86131156	86131156	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	14	.	.	ENST00000224756.8:c.348T>A	p.Ser116Arg	p.S116R	ENST00000224756	NM_018999.2	116	agT/agA	0	1	1	UPI00005E1AE0	0	NA	ENST00000224756		ENSG00000107771	29197		34	1.87		HGNC	p.S116R		CCSER2		SNV							ENST00000224756	protein_coding	getma.org/?cm=var&var=hg19,10,86131156,T,A&fts=all		hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF2		S/R		A	low	533/7664		getma.org/?cm=msa&ty=f&p=F190B_HUMAN&rb=1&re=169&var=S116R	deleterious(0)	B4DFY4_HUMAN			YES	CCSER2,missense_variant,p.Ser116Arg,ENST00000224756,NM_018999.2;CCSER2,missense_variant,p.Ser116Arg,ENST00000372088,NM_001284240.1;CCSER2,missense_variant,p.Ser116Arg,ENST00000359979,NM_001284241.1;							MODERATE	348/2505	S116R	CCSE2_HUMAN			Transcript		possibly_damaging(0.628)	.	ENSP00000224756		CCDS31235.1			1	
CCDC40	0	LGGM	GRCh37	17	78032761	78032761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	61	14	.	.	ENST00000397545.4:c.1422A>T	p.Leu474Phe	p.L474F	ENST00000397545	NM_017950.3	474	ttA/ttT	0	1	1	UPI0000201739	0	NA	ENST00000397545		ENSG00000141519	26090		75	2.075		HGNC	p.L474F		CCDC40		SNV			1				ENST00000374877	protein_coding	getma.org/?cm=var&var=hg19,17,78032761,A,T&fts=all		hmmpanther:PTHR16275		L/F		T	medium	1449/4294		getma.org/?cm=msa&ty=f&p=CCD40_HUMAN&rb=401&re=600&var=L474F	deleterious(0.02)	I3L2X6_HUMAN,I3L292_HUMAN			YES	CCDC40,missense_variant,p.Leu474Phe,ENST00000397545,NM_017950.3;CCDC40,missense_variant,p.Leu474Phe,ENST00000374877,NM_001243342.1;CCDC40,missense_variant,p.Leu474Phe,ENST00000269318,;CCDC40,missense_variant,p.Leu13Phe,ENST00000571028,;CCDC40,intron_variant,,ENST00000374876,;CCDC40,non_coding_transcript_exon_variant,,ENST00000574799,;							MODERATE	1422/3429	L474F	CCD40_HUMAN			Transcript		possibly_damaging(0.753)	.	ENSP00000380679		CCDS42395.1			1	
KCNN2	0	LGGM	GRCh37	5	113740288	113740288	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	62	14	.	.	ENST00000512097.3:c.736G>T	p.Ala246Ser	p.A246S	ENST00000512097		246	Gcc/Tcc	0	1		UPI000013D56A	0	NA	ENST00000264773		ENSG00000080709	6291		76	1.78		HGNC	p.A246S		KCNN2		SNV							ENST00000512097	protein_coding	getma.org/?cm=var&var=hg19,5,113740288,G,T&fts=all		hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Gene3D:1.10.287.70		A/S		T	low	1193/2515		getma.org/?cm=msa&ty=f&p=KCNN2_HUMAN&rb=239&re=311&var=A246S	tolerated(0.3)					KCNN2,missense_variant,p.Ala246Ser,ENST00000512097,;KCNN2,missense_variant,p.Ala246Ser,ENST00000264773,NM_001278204.1,NM_021614.3;KCNN2,intron_variant,,ENST00000507750,;							MODERATE	736/1740	A246S	KCNN2_HUMAN			Transcript		benign(0.007)	.	ENSP00000264773		CCDS4114.1			1	
COL16A1	0	LGGM	GRCh37	1	32133785	32133785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	14	.	.	ENST00000373672.3:c.3284C>A	p.Thr1095Lys	p.T1095K	ENST00000373672	NM_001856.3	1095	aCg/aAg	0	1	1	UPI0000203DD1	0	getma.org/pdb.php?prot=COGA1_HUMAN&from=1076&to=1275&var=T1095K	ENST00000373672		ENSG00000084636	2193		32	-0.115		HGNC	p.T1095K		COL16A1		SNV							ENST00000373672	protein_coding	getma.org/?cm=var&var=hg19,1,32133785,G,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,Low_complexity_(Seg):seg		T/K		T	neutral	3801/5736		getma.org/?cm=msa&ty=f&p=COGA1_HUMAN&rb=1076&re=1275&var=T1095K					YES	COL16A1,missense_variant,p.Thr1095Lys,ENST00000373672,NM_001856.3;COL16A1,missense_variant,p.Thr1095Lys,ENST00000271069,;COL16A1,downstream_gene_variant,,ENST00000458715,;COL16A1,upstream_gene_variant,,ENST00000440437,;COL16A1,non_coding_transcript_exon_variant,,ENST00000468459,;COL16A1,non_coding_transcript_exon_variant,,ENST00000488128,;COL16A1,non_coding_transcript_exon_variant,,ENST00000479100,;COL16A1,upstream_gene_variant,,ENST00000488897,;COL16A1,upstream_gene_variant,,ENST00000470799,;COL16A1,upstream_gene_variant,,ENST00000482910,;							MODERATE	3284/4815	T1095K	COGA1_HUMAN			Transcript		unknown(0)	.	ENSP00000362776		CCDS41297.1			1	
SLC17A3	0	LGGM	GRCh37	6	25862460	25862460	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	14	15	.	.	ENST00000397060.4:c.303+1G>T		p.X101_splice	ENST00000397060	NM_001098486.1			0	1		UPI000006FCFB	0		ENST00000360657		ENSG00000124564	10931		29			HGNC	-		SLC17A3		SNV			1				ENST00000397060	protein_coding							A		-/1750				H0Y9F7_HUMAN				SLC17A3,splice_donor_variant,,ENST00000397060,NM_001098486.1;SLC17A3,splice_donor_variant,,ENST00000360657,;SLC17A3,splice_donor_variant,,ENST00000361703,NM_006632.3;SLC17A3,splice_donor_variant,,ENST00000509714,;SLC17A3,splice_donor_variant,,ENST00000506105,;SLC17A3,splice_donor_variant,,ENST00000503922,;SLC17A3,splice_donor_variant,,ENST00000308453,;SLC17A3,splice_donor_variant,,ENST00000449356,;							HIGH	303/1263		NPT4_HUMAN			Transcript			.	ENSP00000353873		CCDS4566.2			1	
OR14A16	0	LGGM	GRCh37	1	247978764	247978764	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	34	15	.	.	ENST00000357627.1:c.268A>G	p.Ile90Val	p.I90V	ENST00000357627	NM_001001966.1	90	Att/Gtt	0	1	1	UPI0000041CE2	0	getma.org/pdb.php?prot=O14AG_HUMAN&from=1&to=137&var=I90V	ENST00000357627		ENSG00000196772	15022		49	2.105		HGNC	p.I90V		OR14A16		SNV							ENST00000357627	protein_coding	getma.org/?cm=var&var=hg19,1,247978764,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		I/V		C	medium	268/930		getma.org/?cm=msa&ty=f&p=O14AG_HUMAN&rb=1&re=137&var=I90V	deleterious(0)				YES	OR14A16,missense_variant,p.Ile90Val,ENST00000357627,NM_001001966.1;							MODERATE	268/930	I90V	O14AG_HUMAN			Transcript		possibly_damaging(0.723)	.	ENSP00000350248		CCDS31097.1			1	
IL12B	0	LGGM	GRCh37	5	158753711	158753711	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	77	15	.	.	ENST00000231228.2:c.80A>T	p.Lys27Met	p.K27M	ENST00000231228	NM_002187.2	27	aAg/aTg	0	1	1	UPI00000358B7	0	getma.org/pdb.php?prot=IL12B_HUMAN&from=23&to=106&var=K27M	ENST00000231228		ENSG00000113302	5970		92	0.49		HGNC	p.K27M		IL12B		SNV			1				ENST00000231228	protein_coding	getma.org/?cm=var&var=hg19,5,158753711,T,A&fts=all		Gene3D:2.60.40.10,PIRSF_domain:PIRSF038007,PROSITE_profiles:PS50835,hmmpanther:PTHR11321		K/M		A	neutral	536/2761		getma.org/?cm=msa&ty=f&p=IL12B_HUMAN&rb=23&re=106&var=K27M	deleterious(0.01)	Q8N0X8_HUMAN,A1Z2L5_HUMAN			YES	IL12B,missense_variant,p.Lys27Met,ENST00000231228,NM_002187.2;AC008697.1,intron_variant,,ENST00000521472,;AC008697.1,upstream_gene_variant,,ENST00000515337,;							MODERATE	80/987	K27M	IL12B_HUMAN			Transcript		benign(0.317)	.	ENSP00000231228		CCDS4346.1			1	
FBN1	0	LGGM	GRCh37	15	48736799	48736799	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	48	15	.	.	ENST00000316623.5:c.5976G>A	p.Leu1992=	p.L1992=	ENST00000316623	NM_000138.4	1992	ttG/ttA	0	1	1	UPI0000163B0B	0		ENST00000316623		ENSG00000166147	3603		63			HGNC	p.L1992L		FBN1		SNV			1				ENST00000316623	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF07645,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:SSF57196		L		T		6432/11756				Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,synonymous_variant,p.=,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,non_coding_transcript_exon_variant,,ENST00000560820,;							LOW	5976/8616		FBN1_HUMAN			Transcript			.	ENSP00000325527		CCDS32232.1			1	
NCCRP1	0	LGGM	GRCh37	19	39691327	39691327	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	44	15	.	.	ENST00000339852.4:c.759C>A	p.Arg253=	p.R253=	ENST00000339852	NM_001001414.1	253	cgC/cgA	0	1	1	UPI00001C0962	0		ENST00000339852		ENSG00000188505	33739		59			HGNC	p.R253R		NCCRP1		SNV							ENST00000339852	protein_coding			Gene3D:2.60.120.260,Pfam_domain:PF04300,PROSITE_profiles:PS51114,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF1,Superfamily_domains:SSF49785		R		A		781/1978							YES	NCCRP1,synonymous_variant,p.=,ENST00000339852,NM_001001414.1;SYCN,downstream_gene_variant,,ENST00000318438,NM_001080468.2;							LOW	759/828		FBX50_HUMAN			Transcript			.	ENSP00000342137		CCDS12529.1			1	
SLC44A5	0	LGGM	GRCh37	1	75685012	75685012	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	61	15	.	.	ENST00000370855.5:c.1196G>T	p.Gly399Val	p.G399V	ENST00000370855	NM_152697.4	399	gGg/gTg	0	1	1	UPI000013E195	0	NA	ENST00000370855		ENSG00000137968	28524		76	3.14		HGNC	p.G399V		SLC44A5		SNV							ENST00000370855	protein_coding	getma.org/?cm=var&var=hg19,1,75685012,C,A&fts=all		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42		G/V		A	medium	1310/4406		getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=327&re=691&var=G399V	deleterious(0)	B7Z473_HUMAN			YES	SLC44A5,missense_variant,p.Gly399Val,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Gly399Val,ENST00000370859,NM_001130058.1;SLC44A5,missense_variant,p.Gly269Val,ENST00000535611,;							MODERATE	1196/2160	G399V	CTL5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359892		CCDS667.1			1	
FANCD2	0	LGGM	GRCh37	3	10133924	10133924	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	158	15	.	.	ENST00000287647.3:c.3837C>T	p.Ile1279=	p.I1279=	ENST00000287647	NM_033084.3	1279	atC/atT	0	1		UPI000006CD51	0		ENST00000383807		ENSG00000144554	3585		173			HGNC	p.S1248L		FANCD2		SNV			1				ENST00000383806	protein_coding			hmmpanther:PTHR32086,Pfam_domain:PF14631		I		T		3915/5102								FANCD2,missense_variant,p.Ser1248Leu,ENST00000383806,;FANCD2,synonymous_variant,p.=,ENST00000287647,NM_033084.3;FANCD2,synonymous_variant,p.=,ENST00000419585,;FANCD2,synonymous_variant,p.=,ENST00000383807,NM_001018115.1;FANCD2OS,intron_variant,,ENST00000524279,NM_173472.1;FANCD2OS,intron_variant,,ENST00000436517,;FANCD2OS,intron_variant,,ENST00000431315,;FANCD2,upstream_gene_variant,,ENST00000470028,;FANCD2,missense_variant,p.Ser748Leu,ENST00000421731,;							LOW	3837/4356		FACD2_HUMAN			Transcript			.	ENSP00000373318		CCDS33696.1			1	
COG2	0	LGGM	GRCh37	1	230807296	230807296	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	75	16	.	.	ENST00000366669.4:c.809A>T	p.Asn270Ile	p.N270I	ENST00000366669	NM_001145036.1	270	aAt/aTt	0	1	1	UPI0000127E38	0	NA	ENST00000366669		ENSG00000135775	6546		91	1.78		HGNC	p.N154I		COG2		SNV							ENST00000535166	protein_coding	getma.org/?cm=var&var=hg19,1,230807296,A,T&fts=all		hmmpanther:PTHR12961		N/I		T	low	924/2921		getma.org/?cm=msa&ty=f&p=COG2_HUMAN&rb=148&re=347&var=N270I	deleterious(0)	F5H1E5_HUMAN,B7Z2Y2_HUMAN,B1ALW7_HUMAN			YES	COG2,missense_variant,p.Asn211Ile,ENST00000534989,;COG2,missense_variant,p.Asn270Ile,ENST00000366669,NM_001145036.1,NM_007357.2;COG2,missense_variant,p.Asn270Ile,ENST00000366668,;COG2,missense_variant,p.Asn154Ile,ENST00000535166,;COG2,3_prime_UTR_variant,,ENST00000468893,;COG2,non_coding_transcript_exon_variant,,ENST00000494371,;							MODERATE	809/2217	N270I	COG2_HUMAN			Transcript		benign(0.181)	.	ENSP00000355629		CCDS1584.1			1	
TGM4	0	LGGM	GRCh37	3	44935086	44935086	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	16	.	.	ENST00000296125.4:c.448C>A	p.Pro150Thr	p.P150T	ENST00000296125	NM_003241.3	150	Cct/Act	0	1	1	UPI0000136CCD	0	getma.org/pdb.php?prot=TGM4_HUMAN&from=126&to=228&var=P150T	ENST00000296125		ENSG00000163810	11780		41	1.905		HGNC	p.P150T		TGM4		SNV							ENST00000296125	protein_coding	getma.org/?cm=var&var=hg19,3,44935086,C,A&fts=all		hmmpanther:PTHR11590:SF11,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001		P/T		A	medium	516/3388		getma.org/?cm=msa&ty=f&p=TGM4_HUMAN&rb=126&re=228&var=P150T	deleterious(0.02)	Q9UBL5_HUMAN			YES	TGM4,missense_variant,p.Pro150Thr,ENST00000296125,NM_003241.3;TGM4,3_prime_UTR_variant,,ENST00000422219,;TGM4,non_coding_transcript_exon_variant,,ENST00000495844,;TGM4,downstream_gene_variant,,ENST00000490928,;							MODERATE	448/2055	P150T	TGM4_HUMAN			Transcript		benign(0.157)	.	ENSP00000296125		CCDS2723.1			1	
NUP98	0	LGGM	GRCh37	11	3793097	3793097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	12	16	.	.	ENST00000324932.7:c.665G>T	p.Gly222Val	p.G222V	ENST00000324932	NM_139132.3	222	gGt/gTt	0	1		UPI00015DFF4D	0	NA	ENST00000359171		ENSG00000110713	8068		28	2.05		HGNC	p.G222V		NUP98		SNV							ENST00000397004	protein_coding	getma.org/?cm=var&var=hg19,11,3793097,C,A&fts=all		hmmpanther:PTHR23198:SF0,hmmpanther:PTHR23198		G/V		A	medium	1086/6770		getma.org/?cm=msa&ty=f&p=NUP98_HUMAN&rb=201&re=262&var=G222V	tolerated(0.05)	Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,missense_variant,p.Gly222Val,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,missense_variant,p.Gly222Val,ENST00000359171,;NUP98,missense_variant,p.Gly222Val,ENST00000355260,;NUP98,missense_variant,p.Gly222Val,ENST00000397004,NM_139131.3;NUP98,missense_variant,p.Gly222Val,ENST00000397007,NM_005387.5;NUP98,downstream_gene_variant,,ENST00000532475,;NUP98,upstream_gene_variant,,ENST00000397013,;							MODERATE	665/4917	G222V				Transcript		benign(0.085)	.	ENSP00000352091					1	
CNTN1	0	LGGM	GRCh37	12	41316196	41316196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	50	17	.	.	ENST00000551295.2:c.366G>A	p.Met122Ile	p.M122I	ENST00000551295	NM_001843.3	122	atG/atA	0	1		UPI0000127EBA	0	getma.org/pdb.php?prot=CNTN1_HUMAN&from=41&to=132&var=M122I	ENST00000347616		ENSG00000018236	2171		67	-0.345		HGNC	p.M122I	rs546881080	CNTN1		SNV			1				ENST00000347616	protein_coding	getma.org/?cm=var&var=hg19,12,41316196,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726		M/I		A	neutral	445/3393		getma.org/?cm=msa&ty=f&p=CNTN1_HUMAN&rb=41&re=132&var=M122I	deleterious(0.03)	F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN				CNTN1,missense_variant,p.Met122Ile,ENST00000551295,NM_001843.3;CNTN1,missense_variant,p.Met122Ile,ENST00000347616,;CNTN1,missense_variant,p.Met111Ile,ENST00000348761,NM_175038.2;CNTN1,missense_variant,p.Met122Ile,ENST00000547849,NM_001256064.1;CNTN1,missense_variant,p.Met122Ile,ENST00000547702,NM_001256063.1;CNTN1,missense_variant,p.Met122Ile,ENST00000360099,;CNTN1,downstream_gene_variant,,ENST00000552913,;CNTN1,downstream_gene_variant,,ENST00000551424,;CNTN1,downstream_gene_variant,,ENST00000548005,;CNTN1,downstream_gene_variant,,ENST00000552248,;							MODERATE	366/3057	M122I	CNTN1_HUMAN			Transcript		benign(0.003)	.	ENSP00000325660		CCDS8737.1			1	
AHCTF1	0	LGGM	GRCh37	1	247024371	247024371	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	7	17	.	.	ENST00000326225.3:c.3989A>G	p.Tyr1330Cys	p.Y1330C	ENST00000326225	NM_015446.4	1330	tAt/tGt	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		24	2.095		HGNC	p.Y1356C		AHCTF1		SNV							ENST00000366508	protein_coding	getma.org/?cm=var&var=hg19,1,247024371,T,C&fts=all		hmmpanther:PTHR21583		Y/C		C	medium	4086/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=1052&re=2264&var=Y1321C	deleterious(0.02)	C9J5C5_HUMAN			YES	AHCTF1,missense_variant,p.Tyr1356Cys,ENST00000366508,;AHCTF1,missense_variant,p.Tyr1330Cys,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Tyr1321Cys,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;							MODERATE	3989/6828	Y1321C	ELYS_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000355465		CCDS1629.2			1	
ADAMDEC1	0	LGGM	GRCh37	8	24256061	24256061	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	47	17	.	.	ENST00000256412.4:c.759T>A	p.Asn253Lys	p.N253K	ENST00000256412	NM_014479.3	253	aaT/aaA	0	1	1	UPI0000073385	0	getma.org/pdb.php?prot=ADEC1_HUMAN&from=218&to=412&var=N253K	ENST00000256412		ENSG00000134028	16299		64	2.725		HGNC	p.N253K		ADAMDEC1		SNV							ENST00000256412	protein_coding	getma.org/?cm=var&var=hg19,8,24256061,T,A&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF125,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		N/K		A	medium	979/2348		getma.org/?cm=msa&ty=f&p=ADEC1_HUMAN&rb=218&re=412&var=N253K	deleterious(0.01)	B7Z6U5_HUMAN			YES	ADAMDEC1,missense_variant,p.Asn174Lys,ENST00000538205,NM_001145271.1;ADAMDEC1,missense_variant,p.Asn253Lys,ENST00000256412,NM_014479.3;ADAMDEC1,missense_variant,p.Asn174Lys,ENST00000522298,NM_001145272.1;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;ADAMDEC1,3_prime_UTR_variant,,ENST00000520193,;							MODERATE	759/1413	N253K	ADEC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256412		CCDS6044.1			1	
SHKBP1	0	LGGM	GRCh37	19	41094648	41094648	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	17	18	.	.	ENST00000291842.5:c.1455A>T	p.Ala485=	p.A485=	ENST00000291842	NM_138392.3	485	gcA/gcT	0	1	1	UPI0000036171	0		ENST00000291842		ENSG00000160410	19214		35			HGNC	p.A460A		SHKBP1		SNV							ENST00000600733	protein_coding			hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF3		A		T		1504/2363				B3KVX8_HUMAN			YES	SHKBP1,missense_variant,p.Gln2Leu,ENST00000595726,;SHKBP1,synonymous_variant,p.=,ENST00000291842,NM_138392.3;SHKBP1,synonymous_variant,p.=,ENST00000600733,;SHKBP1,synonymous_variant,p.=,ENST00000600718,;SHKBP1,synonymous_variant,p.=,ENST00000597396,;SHKBP1,synonymous_variant,p.=,ENST00000600320,;SHKBP1,synonymous_variant,p.=,ENST00000602011,;SHKBP1,synonymous_variant,p.=,ENST00000593764,;SHKBP1,intron_variant,,ENST00000594298,;LTBP4,upstream_gene_variant,,ENST00000204005,NM_003573.2;LTBP4,upstream_gene_variant,,ENST00000545697,;SHKBP1,upstream_gene_variant,,ENST00000594862,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000597649,;LTBP4,upstream_gene_variant,,ENST00000602240,;LTBP4,upstream_gene_variant,,ENST00000600026,;SHKBP1,synonymous_variant,p.=,ENST00000596163,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000599833,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000600791,;SHKBP1,upstream_gene_variant,,ENST00000602239,;							LOW	1455/2124		SHKB1_HUMAN			Transcript			.	ENSP00000291842		CCDS12560.1			1	
PLEKHA7	0	LGGM	GRCh37	11	16838629	16838629	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	5	18	.	.	ENST00000355661.3:c.1584G>A	p.Gln528=	p.Q528=	ENST00000355661		528	caG/caA	0	1	1	UPI0000456498	0		ENST00000355661		ENSG00000166689	27049		23			HGNC	p.Q528Q		PLEKHA7		SNV							ENST00000531066	protein_coding			hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752		Q		T		1595/4980				E9PL74_HUMAN,E9PIK1_HUMAN			YES	PLEKHA7,synonymous_variant,p.=,ENST00000355661,;PLEKHA7,synonymous_variant,p.=,ENST00000448080,NM_175058.4;PLEKHA7,synonymous_variant,p.=,ENST00000531066,;PLEKHA7,synonymous_variant,p.=,ENST00000530489,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,upstream_gene_variant,,ENST00000525581,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,upstream_gene_variant,,ENST00000525049,;							LOW	1584/3366		PKHA7_HUMAN			Transcript			.	ENSP00000347883		CCDS31434.1			1	
YME1L1	0	LGGM	GRCh37	10	27411849	27411849	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	57	18	.	.	ENST00000326799.3:c.1327G>T	p.Val443Phe	p.V443F	ENST00000326799	NM_139312.2	443	Gtt/Ttt	0	1	1	UPI000013DBDD	0	getma.org/pdb.php?prot=YMEL1_HUMAN&from=375&to=506&var=V443F	ENST00000326799		ENSG00000136758	12843		75	0.515		HGNC	p.V386F		YME1L1		SNV							ENST00000376016	protein_coding	getma.org/?cm=var&var=hg19,10,27411849,C,A&fts=all		Gene3D:3.40.50.300,HAMAP:MF_01458,Pfam_domain:PF00004,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF37,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01241		V/F		A	neutral	1476/3994		getma.org/?cm=msa&ty=f&p=YMEL1_HUMAN&rb=375&re=506&var=V443F	deleterious(0)				YES	YME1L1,missense_variant,p.Val443Phe,ENST00000326799,NM_139312.2;YME1L1,missense_variant,p.Val386Phe,ENST00000376016,NM_014263.3;YME1L1,missense_variant,p.Val353Phe,ENST00000375972,NM_001253866.1;YME1L1,downstream_gene_variant,,ENST00000491542,;YME1L1,downstream_gene_variant,,ENST00000463270,;							MODERATE	1327/2322	V443F	YMEL1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000318480		CCDS7152.1			1	
ANKRD52	0	LGGM	GRCh37	12	56647081	56647081	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	70	18	.	.	ENST00000267116.7:c.1091A>C	p.Asp364Ala	p.D364A	ENST00000267116	NM_173595.3	364	gAt/gCt	0	1	1	UPI0000237861	0	getma.org/pdb.php?prot=ANR52_HUMAN&from=279&to=369&var=D364A	ENST00000267116		ENSG00000139645	26614		88	2.44		HGNC	p.D364A		ANKRD52		SNV							ENST00000267116	protein_coding	getma.org/?cm=var&var=hg19,12,56647081,T,G&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24158:SF17,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		D/A		G	medium	1213/8688		getma.org/?cm=msa&ty=f&p=ANR52_HUMAN&rb=279&re=369&var=D364A	deleterious(0.02)				YES	ANKRD52,missense_variant,p.Asp364Ala,ENST00000267116,NM_173595.3;ANKRD52,downstream_gene_variant,,ENST00000551023,;ANKRD52,downstream_gene_variant,,ENST00000548081,;							MODERATE	1091/3231	D364A	ANR52_HUMAN			Transcript		possibly_damaging(0.646)	.	ENSP00000267116		CCDS44920.1			1	
IGHV1OR21-1	0	LGGM	GRCh37	21	10862858	10862858	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	163	18	.	.	ENST00000559480.1:c.154T>A	p.Cys52Ser	p.C52S	ENST00000559480		52	Tgt/Agt	0	1	1	UPI000041AB26	0		ENST00000559480		ENSG00000169861	38040		181			HGNC	p.C52S		IGHV1OR21-1		SNV							ENST00000302092	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		C/S		A		154/363			tolerated(0.33)				YES	IGHV1OR21-1,missense_variant,p.Cys52Ser,ENST00000559480,;IGHV1OR21-1,missense_variant,p.Cys52Ser,ENST00000302092,;							MODERATE	154/363		IV1U1_HUMAN			Transcript		benign(0)	.	ENSP00000453358					1	
PXDN	0	LGGM	GRCh37	2	1667423	1667423	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	79	18	.	.	ENST00000252804.4:c.1521C>T	p.Ile507=	p.I507=	ENST00000252804	NM_012293.1	507	atC/atT	0	1	1	UPI00001C1DC2	0		ENST00000252804		ENSG00000130508	14966		97			HGNC	p.I507I		PXDN		SNV			1				ENST00000252804	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		I		A		1572/6808							YES	PXDN,synonymous_variant,p.=,ENST00000252804,NM_012293.1;PXDN,synonymous_variant,p.=,ENST00000433670,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,downstream_gene_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;							LOW	1521/4440		PXDN_HUMAN			Transcript			.	ENSP00000252804		CCDS46221.1			1	
DOCK5	0	LGGM	GRCh37	8	25178564	25178564	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	51	18	.	.	ENST00000276440.7:c.1611G>A	p.Gln537=	p.Q537=	ENST00000276440	NM_024940.6	537	caG/caA	0	1	1	UPI000022D4F3	0		ENST00000276440		ENSG00000147459	23476		69			HGNC	p.Q537Q		DOCK5		SNV							ENST00000276440	protein_coding			Pfam_domain:PF14429,PROSITE_profiles:PS51650,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68		Q		A		1655/10075							YES	DOCK5,synonymous_variant,p.=,ENST00000276440,NM_024940.6;DOCK5,synonymous_variant,p.=,ENST00000444569,;DOCK5,upstream_gene_variant,,ENST00000467709,;DOCK5,downstream_gene_variant,,ENST00000487948,;							LOW	1611/5613		DOCK5_HUMAN			Transcript			.	ENSP00000276440		CCDS6047.1			1	
BOLL	0	LGGM	GRCh37	2	198623704	198623704	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	18	.	.	ENST00000321801.7:c.589-1580T>A		*197*	ENST00000321801	NM_197970.2			0	1		UPI000006F9F3	0		ENST00000392296		ENSG00000152430	14273		36			HGNC	p.W194R		BOLL		SNV							ENST00000430004	protein_coding							T		-/2838								BOLL,missense_variant,p.Trp194Arg,ENST00000430004,NM_001284361.1;BOLL,intron_variant,,ENST00000321801,NM_197970.2;BOLL,intron_variant,,ENST00000392296,NM_033030.5;BOLL,intron_variant,,ENST00000282278,NM_001284358.1;BOLL,intron_variant,,ENST00000433157,;AC011997.1,intron_variant,,ENST00000409845,;BOLL,upstream_gene_variant,,ENST00000468827,;BOLL,intron_variant,,ENST00000434976,;							MODIFIER	-/852		BOLL_HUMAN			Transcript			.	ENSP00000376116		CCDS2325.1			1	
SEC14L5	0	LGGM	GRCh37	16	5064867	5064867	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	18	.	.	ENST00000251170.7:c.1987A>T	p.Met663Leu	p.M663L	ENST00000251170	NM_014692.1	663	Atg/Ttg	0	1	1	UPI00001C1FA3	0	NA	ENST00000251170		ENSG00000103184	29032		43	2.075		HGNC	p.M663L		SEC14L5		SNV							ENST00000251170	protein_coding	getma.org/?cm=var&var=hg19,16,5064867,A,T&fts=all		hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF39,Superfamily_domains:0041713		M/L		T	medium	2167/6459		getma.org/?cm=msa&ty=f&p=S14L5_HUMAN&rb=478&re=677&var=M663L	deleterious(0.03)	K7ERV2_HUMAN			YES	SEC14L5,missense_variant,p.Met663Leu,ENST00000251170,NM_014692.1;RP11-165E7.1,intron_variant,,ENST00000588778,;							MODERATE	1987/2091	M663L	S14L5_HUMAN			Transcript		benign(0.043)	.	ENSP00000251170		CCDS45403.1			1	
PBX1	0	LGGM	GRCh37	1	164789326	164789326	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	34	18	.	.	ENST00000420696.2:c.1015A>T	p.Asn339Tyr	p.N339Y	ENST00000420696	NM_002585.3	339	Aac/Tac	0	1	1	UPI00000213E1	0	NA	ENST00000420696		ENSG00000185630	8632		52	1.78		HGNC	p.N234Y		PBX1		SNV			1				ENST00000540246	protein_coding	getma.org/?cm=var&var=hg19,1,164789326,A,T&fts=all		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58,Low_complexity_(Seg):seg		N/Y		T	low	1203/6636		getma.org/?cm=msa&ty=f&p=PBX1_HUMAN&rb=294&re=430&var=N339Y	deleterious(0.04)	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN			YES	PBX1,missense_variant,p.Asn339Tyr,ENST00000420696,NM_002585.3,NM_001204963.1,NM_001204961.1;PBX1,missense_variant,p.Asn234Tyr,ENST00000560641,;PBX1,missense_variant,p.Asn234Tyr,ENST00000540246,;PBX1,missense_variant,p.Asn339Tyr,ENST00000540236,;PBX1,intron_variant,,ENST00000367897,;PBX1,intron_variant,,ENST00000401534,;PBX1,intron_variant,,ENST00000559240,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,non_coding_transcript_exon_variant,,ENST00000465089,;							MODERATE	1015/1293	N339Y	PBX1_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000405890		CCDS1246.1			1	
TRANK1	0	LGGM	GRCh37	3	36944647	36944647	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	27	18	.	.	ENST00000429976.2:c.143A>T	p.Tyr48Phe	p.Y48F	ENST00000429976		48	tAc/tTc	0	1	1	UPI00017BE82B	0	getma.org/pdb.php?prot=TRNK1_HUMAN&from=1&to=200&var=Y48F	ENST00000429976		ENSG00000168016	29011		45	0.835		HGNC	p.Y48F		TRANK1		SNV							ENST00000429976	protein_coding	getma.org/?cm=var&var=hg19,3,36944647,T,A&fts=all		Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,PROSITE_profiles:PS50293		Y/F		A	low	391/10481		getma.org/?cm=msa&ty=f&p=TRNK1_HUMAN&rb=1&re=200&var=Y48F	tolerated(0.13)	B7WP88_HUMAN			YES	TRANK1,missense_variant,p.Tyr48Phe,ENST00000429976,;TRANK1,5_prime_UTR_variant,,ENST00000301807,NM_014831.2;TRANK1,non_coding_transcript_exon_variant,,ENST00000463764,;TRANK1,non_coding_transcript_exon_variant,,ENST00000511973,;TRANK1,upstream_gene_variant,,ENST00000505962,;							MODERATE	143/8778	Y48F	TRNK1_HUMAN			Transcript		benign(0.186)	.	ENSP00000416168		CCDS46789.2			1	
MYCBP2	0	LGGM	GRCh37	13	77831950	77831950	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	20	19	.	.	ENST00000544440.2:c.1918T>A	p.Leu640Met	p.L640M	ENST00000544440		640	Ttg/Atg	0	1		UPI0000212757	0	getma.org/pdb.php?prot=MYCB2_HUMAN&from=547&to=644&var=L640M	ENST00000357337		ENSG00000005810	23386		39	1.795		HGNC	p.L640M		MYCBP2		SNV							ENST00000544440	protein_coding	getma.org/?cm=var&var=hg19,13,77831950,A,T&fts=all		Gene3D:2.130.10.30,hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14,Superfamily_domains:SSF50985		L/M		T	low	2011/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=547&re=644&var=L640M						MYCBP2,missense_variant,p.Leu678Met,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Leu640Met,ENST00000357337,;MYCBP2,missense_variant,p.Leu640Met,ENST00000544440,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;							MODERATE	1918/13923	L640M	MYCB2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000349892					1	
KNTC1	0	LGGM	GRCh37	12	123067274	123067274	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	50	19	.	.	ENST00000333479.7:c.3005C>T	p.Ser1002Leu	p.S1002L	ENST00000333479	NM_014708.4	1002	tCa/tTa	0	1	1	UPI0000047FD6	0	NA	ENST00000333479		ENSG00000184445	17255		69	1.445		HGNC	p.S1002L		KNTC1		SNV							ENST00000333479	protein_coding	getma.org/?cm=var&var=hg19,12,123067274,C,T&fts=all		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688		S/L		T	low	3182/6975		getma.org/?cm=msa&ty=f&p=KNTC1_HUMAN&rb=1001&re=1200&var=S1002L	deleterious(0)	J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,missense_variant,p.Ser1002Leu,ENST00000333479,NM_014708.4;KNTC1,intron_variant,,ENST00000450485,;							MODERATE	3005/6630	S1002L	KNTC1_HUMAN			Transcript		benign(0.016)	.	ENSP00000328236		CCDS45002.1			1	
DNAH14	0	LGGM	GRCh37	1	225332318	225332318	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	19	.	.	ENST00000328556.5:c.1962A>T	p.Lys654Asn	p.K654N	ENST00000328556		654	aaA/aaT	0	1		UPI0001642868	0	getma.org/pdb.php?prot=DYH14_HUMAN&from=1126&to=1193&var=K1175N	ENST00000445597		ENSG00000185842	2945		54	3.105		HGNC	p.K1175N		DNAH14		SNV							ENST00000445597	protein_coding	getma.org/?cm=var&var=hg19,1,225332318,A,T&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676		K/N		T	medium	3525/10524		getma.org/?cm=msa&ty=f&p=DYH14_HUMAN&rb=1126&re=1193&var=K1175N	deleterious(0)	C9JU64_HUMAN				DNAH14,missense_variant,p.Lys1559Asn,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Lys1559Asn,ENST00000439375,;DNAH14,missense_variant,p.Lys1175Asn,ENST00000445597,;DNAH14,missense_variant,p.Lys654Asn,ENST00000328556,;DNAH14,3_prime_UTR_variant,,ENST00000495456,;							MODERATE	3525/10524	K1175N	DYH14_HUMAN			Transcript		benign(0.001)	.	ENSP00000409472					1	
CCDC144A	0	LGGM	GRCh37	17	16593770	16593770	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	19	19	.	.	ENST00000443444.2:c.56C>T	p.Ala19Val	p.A19V	ENST00000443444		19	gCa/gTa	0	1		UPI0000F095D0	0	NA	ENST00000360524		ENSG00000170160	29072		38	0		HGNC	p.A19V		CCDC144A		SNV							ENST00000360495	protein_coding	getma.org/?cm=var&var=hg19,17,16593770,C,T&fts=all		hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245		A/V		T	neutral	132/5830		getma.org/?cm=msa&ty=f&p=C144B_HUMAN&rb=1&re=706&var=A19V	deleterious_low_confidence(0.01)					CCDC144A,missense_variant,p.Ala19Val,ENST00000443444,;CCDC144A,missense_variant,p.Ala19Val,ENST00000399273,;CCDC144A,missense_variant,p.Ala19Val,ENST00000360524,NM_014695.1;CCDC144A,missense_variant,p.Ala19Val,ENST00000456009,;CCDC144A,missense_variant,p.Ala19Val,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,missense_variant,p.Ala19Val,ENST00000448331,;CCDC144A,missense_variant,p.Ala19Val,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000399264,;							MODERATE	56/4284	A19V	C144A_HUMAN			Transcript		benign(0.005)	.	ENSP00000353717		CCDS45621.1			1	
HEPACAM2	0	LGGM	GRCh37	7	92848452	92848452	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	19	.	.	ENST00000394468.2:c.392C>T	p.Thr131Ile	p.T131I	ENST00000394468	NM_001039372.1	131	aCt/aTt	0	1	1	UPI000013DA71	0	NA	ENST00000394468		ENSG00000188175	27364		56	0.695		HGNC	p.T119I	rs745779858	HEPACAM2		SNV							ENST00000341723	protein_coding	getma.org/?cm=var&var=hg19,7,92848452,G,A&fts=all		hmmpanther:PTHR19955:SF125,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/I		A	neutral	470/2148		getma.org/?cm=msa&ty=f&p=HECA2_HUMAN&rb=31&re=142&var=T131I	tolerated(0.1)				YES	HEPACAM2,missense_variant,p.Thr131Ile,ENST00000394468,NM_001039372.1;HEPACAM2,missense_variant,p.Thr119Ile,ENST00000341723,NM_198151.1,NM_001288804.1;HEPACAM2,missense_variant,p.Thr119Ile,ENST00000440868,NM_001288810.1;HEPACAM2,missense_variant,p.Thr154Ile,ENST00000453812,;	0.000232						MODERATE	392/1389	T131I	HECA2_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000377980	1.65E-05	CCDS43616.1			1	
PRKAG2	0	LGGM	GRCh37	7	151261181	151261181	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	8	20	.	.	ENST00000287878.4:c.1567A>T	p.Arg523Ter	p.R523*	ENST00000287878	NM_016203.3	523	Aga/Tga	0	1	1	UPI00001250B5	0	NA	ENST00000287878		ENSG00000106617	9386		28	0		HGNC	p.R479X		PRKAG2		SNV			1				ENST00000392801	protein_coding	getma.org/?cm=var&var=hg19,7,151261181,T,A&fts=all		Gene3D:3.10.580.10,Pfam_domain:PF00571,PROSITE_profiles:PS51371,hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF26,SMART_domains:SM00116,Superfamily_domains:SSF54631		R/*		A	NA	2072/3305		NA		C9JUG1_HUMAN			YES	PRKAG2,stop_gained,p.Arg523Ter,ENST00000287878,NM_016203.3;PRKAG2,stop_gained,p.Arg399Ter,ENST00000492843,;PRKAG2,stop_gained,p.Arg398Ter,ENST00000433631,;PRKAG2,stop_gained,p.Arg282Ter,ENST00000418337,NM_024429.1;PRKAG2,stop_gained,p.Arg479Ter,ENST00000392801,NM_001040633.1;PRKAG2,downstream_gene_variant,,ENST00000476632,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000479461,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000485183,;PRKAG2,downstream_gene_variant,,ENST00000488258,;PRKAG2,downstream_gene_variant,,ENST00000478989,;							HIGH	1567/1710	R523*	AAKG2_HUMAN			Transcript			.	ENSP00000287878		CCDS5928.1			1	
COL12A1	0	LGGM	GRCh37	6	75875344	75875344	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	60	20	.	.	ENST00000322507.8:c.2862T>A	p.Pro954=	p.P954=	ENST00000322507	NM_004370.5	954	ccT/ccA	0	1	1	UPI000045890B	0		ENST00000322507		ENSG00000111799	2188		80			HGNC	p.P954P		COL12A1		SNV			1				ENST00000483888	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		T		3172/11723							YES	COL12A1,synonymous_variant,p.=,ENST00000322507,NM_004370.5;COL12A1,synonymous_variant,p.=,ENST00000483888,;COL12A1,synonymous_variant,p.=,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;							LOW	2862/9192		COCA1_HUMAN			Transcript			.	ENSP00000325146		CCDS43482.1			1	
OR4M1	0	LGGM	GRCh37	14	20249061	20249061	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	108	20	.	.	ENST00000315957.4:c.580C>T	p.Pro194Ser	p.P194S	ENST00000315957	NM_001005500.1	194	Cca/Tca	0	1	1	UPI0000061F0F	0	NA	ENST00000315957		ENSG00000176299	14735		128	-0.245		HGNC	p.P194S	rs749051838	OR4M1		SNV							ENST00000315957	protein_coding	getma.org/?cm=var&var=hg19,14,20249061,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF53,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		P/S		T	neutral	661/1116	1.50E-05	getma.org/?cm=msa&ty=f&p=OR4M1_HUMAN&rb=139&re=282&var=P194S	deleterious(0.02)				YES	OR4M1,missense_variant,p.Pro194Ser,ENST00000315957,NM_001005500.1;OR4N2,intron_variant,,ENST00000557414,;							MODERATE	580/942	P194S	OR4M1_HUMAN			Transcript		benign(0.04)	.	ENSP00000319654	8.24E-06	CCDS32021.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121608180	121608180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	55	20	.	.	ENST00000393386.2:c.300A>T	p.Lys100Asn	p.K100N	ENST00000393386	NM_001206838.1	100	aaA/aaT	0	1	1	UPI000020F9BB	0	getma.org/pdb.php?prot=PTPRZ_HUMAN&from=38&to=300&var=K100N	ENST00000393386		ENSG00000106278	9685		75	1.905		HGNC	p.K100N		PTPRZ1		SNV							ENST00000449182	protein_coding	getma.org/?cm=var&var=hg19,7,121608180,A,T&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		K/N		T	medium	711/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=38&re=300&var=K100N	deleterious(0.01)				YES	PTPRZ1,missense_variant,p.Lys100Asn,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Lys100Asn,ENST00000449182,NM_001206839.1;PTPRZ1,downstream_gene_variant,,ENST00000471837,;							MODERATE	300/6948	K100N	PTPRZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377047		CCDS34740.1			1	
CCDC13	0	LGGM	GRCh37	3	42781190	42781190	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	31	20	.	.	ENST00000310232.6:c.1100A>T	p.Lys367Met	p.K367M	ENST00000310232	NM_144719.3	367	aAg/aTg	0	1	1	UPI00001AEF4E	0	NA	ENST00000310232		ENSG00000244607	26358		51	2.22		HGNC	p.K367M		CCDC13		SNV							ENST00000310232	protein_coding	getma.org/?cm=var&var=hg19,3,42781190,T,A&fts=all		hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1		K/M		A	medium	1184/2943		getma.org/?cm=msa&ty=f&p=CCD13_HUMAN&rb=1&re=709&var=K367M	deleterious(0)				YES	CCDC13,missense_variant,p.Lys367Met,ENST00000310232,NM_144719.3;CCDC13-AS1,intron_variant,,ENST00000418161,;CCDC13-AS1,intron_variant,,ENST00000446950,;							MODERATE	1100/2148	K367M	CCD13_HUMAN			Transcript		possibly_damaging(0.774)	.	ENSP00000309836		CCDS2705.1			1	
C1orf106	0	LGGM	GRCh37	1	200868599	200868599	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	21	.	.	ENST00000413687.2:c.56-2A>T		p.X19_splice	ENST00000413687	NM_001142569.2			0	1		UPI000013E26E	0		ENST00000367342		ENSG00000163362	25599		46			HGNC	-		C1orf106		SNV							ENST00000532631	protein_coding							T		-/4298				E9PK29_HUMAN,C9JAT8_HUMAN				C1orf106,splice_acceptor_variant,,ENST00000367342,NM_018265.3;C1orf106,splice_acceptor_variant,,ENST00000413687,NM_001142569.2;C1orf106,splice_acceptor_variant,,ENST00000451872,;C1orf106,splice_acceptor_variant,,ENST00000532631,;C1orf106,upstream_gene_variant,,ENST00000531649,;							HIGH	311/1992		CA106_HUMAN			Transcript			.	ENSP00000356311					1	
UNC13C	0	LGGM	GRCh37	15	54614187	54614187	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	39	21	.	.	ENST00000260323.11:c.4319T>A	p.Val1440Asp	p.V1440D	ENST00000260323	NM_001080534.1	1440	gTc/gAc	0	1	1	UPI0000DD82AB	0	NA	ENST00000260323		ENSG00000137766	23149		60	2.38		HGNC	p.V1438D		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54614187,T,A&fts=all		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		V/D		A	medium	4319/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1314&re=1513&var=V1440D	deleterious_low_confidence(0)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Val1440Asp,ENST00000545554,;UNC13C,missense_variant,p.Val1438Asp,ENST00000537900,;UNC13C,missense_variant,p.Val1440Asp,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;HNRNPA1P74,upstream_gene_variant,,ENST00000560782,;							MODERATE	4319/6645	V1440D	UN13C_HUMAN			Transcript		possibly_damaging(0.741)	.	ENSP00000260323		CCDS45264.1			1	
STK33	0	LGGM	GRCh37	11	8486371	8486371	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	11	22	.	.	ENST00000447869.1:c.340-2A>T		p.X114_splice	ENST00000447869				0	1		UPI000004496E	0		ENST00000315204		ENSG00000130413	14568		33			HGNC	-		STK33		SNV							ENST00000396673	protein_coding							A		-/2707				F8WAK5_HUMAN,E9PNP9_HUMAN,C9JCS6_HUMAN,C9J8B1_HUMAN,C9J6X7_HUMAN,C9J5G1_HUMAN,C9J319_HUMAN,B4DDH2_HUMAN				STK33,splice_acceptor_variant,,ENST00000447869,;STK33,splice_acceptor_variant,,ENST00000315204,NM_030906.2;STK33,splice_acceptor_variant,,ENST00000396672,;STK33,splice_acceptor_variant,,ENST00000396673,;STK33,splice_acceptor_variant,,ENST00000358872,;STK33,splice_acceptor_variant,,ENST00000534493,;STK33,splice_acceptor_variant,,ENST00000418597,;STK33,splice_acceptor_variant,,ENST00000422559,;STK33,splice_acceptor_variant,,ENST00000457885,;STK33,intron_variant,,ENST00000524760,;STK33,intron_variant,,ENST00000526517,;STK33,non_coding_transcript_exon_variant,,ENST00000486305,;							HIGH	340/1545		STK33_HUMAN			Transcript			.	ENSP00000320754		CCDS7789.1			1	
ZP2	0	LGGM	GRCh37	16	21222716	21222716	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	94	22	.	.	ENST00000574002.1:c.63C>T	p.Ser21=	p.S21=	ENST00000574002		21	agC/agT	0	1	1	UPI000013C45C	0		ENST00000574002		ENSG00000103310	13188		116			HGNC	p.S21S		ZP2		SNV							ENST00000574002	protein_coding					S		A		546/2749							YES	ZP2,splice_region_variant,p.=,ENST00000574002,;ZP2,splice_region_variant,p.=,ENST00000219593,NM_003460.1;ZP2,splice_region_variant,p.=,ENST00000574091,;ZP2,splice_region_variant,,ENST00000576162,;ZP2,splice_region_variant,,ENST00000572752,;							LOW	63/2238		ZP2_HUMAN			Transcript			.	ENSP00000460971		CCDS10596.1			1	
GZMA	0	LGGM	GRCh37	5	54405950	54405950	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	39	22	.	.	ENST00000274306.6:c.729T>C	p.Tyr243=	p.Y243=	ENST00000274306	NM_006144.3	243	taT/taC	0	1	1	UPI000013D9FC	0		ENST00000274306		ENSG00000145649	4708		61			HGNC	p.Y243Y		GZMA		SNV							ENST00000274306	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF48,SMART_domains:SM00020,Superfamily_domains:SSF50494		Y		C		764/894							YES	GZMA,synonymous_variant,p.=,ENST00000274306,NM_006144.3;CDC20B,downstream_gene_variant,,ENST00000334206,;CDC20B,downstream_gene_variant,,ENST00000296733,NM_001170402.1,NM_152623.2;CDC20B,downstream_gene_variant,,ENST00000381375,;CDC20B,downstream_gene_variant,,ENST00000322374,NM_001145734.2;							LOW	729/789		GRAA_HUMAN			Transcript			.	ENSP00000274306		CCDS3965.1			1	
KIAA1239	0	LGGM	GRCh37	4	37446550	37446550	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	113	22	.	.	ENST00000309447.5:c.2940C>T	p.Ser980=	p.S980=	ENST00000309447	NM_001144990.1	980	agC/agT	0	1	1	UPI00006C0875	0		ENST00000309447		ENSG00000174145	29229		135			HGNC	p.S980S		KIAA1239		SNV							ENST00000309447	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF82171		S		T		3788/8325							YES	KIAA1239,synonymous_variant,p.=,ENST00000309447,NM_001144990.1;							LOW	2940/5229		K1239_HUMAN			Transcript			.	ENSP00000309501		CCDS47040.1			1	
MMP19	0	LGGM	GRCh37	12	56231698	56231698	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	69	22	.	.	ENST00000322569.4:c.989G>A	p.Trp330Ter	p.W330*	ENST00000322569	NM_002429.5	330	tGg/tAg	0	1	1	UPI0000030AE6	0	NA	ENST00000322569		ENSG00000123342	7165		91	0		HGNC	p.W307X		MMP19		SNV							ENST00000548629	protein_coding	getma.org/?cm=var&var=hg19,12,56231698,C,T&fts=all		Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,SMART_domains:SM00120,Superfamily_domains:SSF50923		W/*		T	NA	1081/2229		NA					YES	MMP19,stop_gained,p.Trp44Ter,ENST00000394182,;MMP19,stop_gained,p.Trp330Ter,ENST00000322569,NM_002429.5;MMP19,stop_gained,p.Trp307Ter,ENST00000548629,;MMP19,synonymous_variant,p.=,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,;							HIGH	989/1527	W330*	MMP19_HUMAN			Transcript			.	ENSP00000313437		CCDS8895.1			1	
KIAA0232	0	LGGM	GRCh37	4	6873319	6873319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	215	22	.	.	ENST00000307659.5:c.3820G>A	p.Asp1274Asn	p.D1274N	ENST00000307659	NM_014743.2	1274	Gat/Aat	0	1	1	UPI000013EC3F	0	NA	ENST00000307659		ENSG00000170871	28992		237	0.805		HGNC	p.D1274N		KIAA0232		SNV							ENST00000307659	protein_coding	getma.org/?cm=var&var=hg19,4,6873319,G,A&fts=all		Pfam_domain:PF15376,hmmpanther:PTHR17611		D/N		A	low	4275/7841		getma.org/?cm=msa&ty=f&p=K0232_HUMAN&rb=1102&re=1310&var=D1274N	tolerated_low_confidence(0.15)	D6REK0_HUMAN			YES	KIAA0232,missense_variant,p.Asp1274Asn,ENST00000307659,NM_014743.2;KIAA0232,missense_variant,p.Asp1274Asn,ENST00000425103,NM_001100590.1;							MODERATE	3820/4188	D1274N	K0232_HUMAN			Transcript		benign(0.008)	.	ENSP00000303928		CCDS43209.1			1	
ARHGEF7	0	LGGM	GRCh37	13	111927890	111927890	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	22	.	.	ENST00000375741.2:c.1347A>T	p.Gln449His	p.Q449H	ENST00000375741	NM_145735.2	449	caA/caT	0	1	1	UPI00002132CC	0	getma.org/pdb.php?prot=ARHG7_HUMAN&from=275&to=450&var=Q449H	ENST00000375741		ENSG00000102606	15607		59	2.48		HGNC	p.Q399H		ARHGEF7		SNV							ENST00000375739	protein_coding	getma.org/?cm=var&var=hg19,13,111927890,A,T&fts=all		Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826,PROSITE_profiles:PS50010		Q/H		T	medium	1597/5525		getma.org/?cm=msa&ty=f&p=ARHG7_HUMAN&rb=275&re=450&var=Q449H	deleterious(0.02)	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN			YES	ARHGEF7,missense_variant,p.Gln449His,ENST00000375741,NM_145735.2,NM_001113511.1;ARHGEF7,missense_variant,p.Gln399His,ENST00000375739,NM_001113512.1;ARHGEF7,missense_variant,p.Gln271His,ENST00000218789,;ARHGEF7,missense_variant,p.Gln271His,ENST00000375736,NM_003899.3;ARHGEF7,missense_variant,p.Gln271His,ENST00000375723,;ARHGEF7,missense_variant,p.Gln271His,ENST00000426073,NM_001113513.1;ARHGEF7,missense_variant,p.Gln356His,ENST00000370623,;ARHGEF7,missense_variant,p.Gln428His,ENST00000317133,;ARHGEF7,missense_variant,p.Gln346His,ENST00000375737,;ARHGEF7,missense_variant,p.Gln193His,ENST00000478679,;ARHGEF7,missense_variant,p.Gln271His,ENST00000466143,;ARHGEF7,missense_variant,p.Gln105His,ENST00000544132,;ARHGEF7,non_coding_transcript_exon_variant,,ENST00000483189,;ARHGEF7,3_prime_UTR_variant,,ENST00000469877,;							MODERATE	1347/2412	Q449H	ARHG7_HUMAN			Transcript		benign(0.047)	.	ENSP00000364893		CCDS45068.1			1	
DTX4	0	LGGM	GRCh37	11	58959677	58959677	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	103	22	.	.	ENST00000227451.3:c.1328T>C	p.Val443Ala	p.V443A	ENST00000227451	NM_015177.1	443	gTc/gCc	0	1	1	UPI00001C1F00	0	getma.org/pdb.php?prot=DTX4_HUMAN&from=407&to=470&var=V443A	ENST00000227451		ENSG00000110042	29151		125	0.44		HGNC	p.V337A		DTX4		SNV							ENST00000532982	protein_coding	getma.org/?cm=var&var=hg19,11,58959677,T,C&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF5,SMART_domains:SM00184,Superfamily_domains:SSF57850		V/A		C	neutral	1432/5642		getma.org/?cm=msa&ty=f&p=DTX4_HUMAN&rb=407&re=470&var=V443A	tolerated(0.9)				YES	DTX4,missense_variant,p.Val443Ala,ENST00000227451,NM_015177.1;DTX4,missense_variant,p.Val337Ala,ENST00000532982,;DTX4,non_coding_transcript_exon_variant,,ENST00000531902,;DTX4,upstream_gene_variant,,ENST00000527475,;							MODERATE	1328/1860	V443A	DTX4_HUMAN			Transcript		benign(0.001)	.	ENSP00000227451		CCDS44612.1			1	
CSMD3	0	LGGM	GRCh37	8	113668482	113668482	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	70	22	.	.	ENST00000297405.5:c.2905C>A	p.Gln969Lys	p.Q969K	ENST00000297405	NM_198123.1	969	Caa/Aaa	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=895&to=1000&var=Q969K	ENST00000297405		ENSG00000164796	19291		92	0.89		HGNC	p.Q929K		CSMD3		SNV							ENST00000343508	protein_coding	getma.org/?cm=var&var=hg19,8,113668482,G,T&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		Q/K		T	low	3150/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=895&re=1000&var=Q969K	deleterious(0)				YES	CSMD3,missense_variant,p.Gln969Lys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Gln929Lys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Gln969Lys,ENST00000352409,;CSMD3,missense_variant,p.Gln865Lys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Gln309Lys,ENST00000339701,;							MODERATE	2905/11124	Q969K	CSMD3_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000297405		CCDS6315.1			1	
PDGFD	0	LGGM	GRCh37	11	103870907	103870907	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	51	22	.	.	ENST00000393158.2:c.201T>A	p.Pro67=	p.P67=	ENST00000393158		67	ccT/ccA	0	1	1	UPI0000034811	0		ENST00000393158		ENSG00000170962	30620		73			HGNC	p.P61P		PDGFD		SNV							ENST00000302251	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF13,SMART_domains:SM00042,Superfamily_domains:SSF49854		P		T		381/3801							YES	PDGFD,synonymous_variant,p.=,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,synonymous_variant,p.=,ENST00000393158,;PDGFD,synonymous_variant,p.=,ENST00000529268,;							LOW	201/1113		PDGFD_HUMAN			Transcript			.	ENSP00000376865		CCDS41703.1			1	
HMGXB3	0	LGGM	GRCh37	5	149417028	149417028	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	15	23	.	.	ENST00000502717.1:c.2351A>T	p.Gln784Leu	p.Q784L	ENST00000502717	NM_014983.2	784	cAg/cTg	0	1	1	UPI00001C1E29	0	NA	ENST00000502717		ENSG00000113716	28982		38	1.7		HGNC	p.Q752L		HMGXB3		SNV							ENST00000503427	protein_coding	getma.org/?cm=var&var=hg19,5,149417028,A,T&fts=all		hmmpanther:PTHR17609,hmmpanther:PTHR17609:SF0		Q/L		T	low	2815/4974		getma.org/?cm=msa&ty=f&p=HMGX3_HUMAN&rb=472&re=1536&var=Q1030L	deleterious(0)	Q6P442_HUMAN			YES	HMGXB3,missense_variant,p.Gln752Leu,ENST00000503427,;HMGXB3,missense_variant,p.Gln784Leu,ENST00000502717,NM_014983.2;HMGXB3,intron_variant,,ENST00000514469,;HMGXB3,intron_variant,,ENST00000513318,;							MODERATE	2351/3879	Q1030L	HMGX3_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000421917		CCDS54935.1			1	
DENND4C	0	LGGM	GRCh37	9	19350854	19350854	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	23	.	.	ENST00000602925.1:c.4325T>C	p.Val1442Ala	p.V1442A	ENST00000602925	NM_017925.5	1442	gTa/gCa	0	1	1	UPI0000EE421F	0	NA	ENST00000602925		ENSG00000137145	26079		48	0		HGNC	p.V77A		DENND4C		SNV							ENST00000380424	protein_coding	getma.org/?cm=var&var=hg19,9,19350854,T,C&fts=all		hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17		V/A		C	neutral	4741/6831		getma.org/?cm=msa&ty=f&p=DEN4C_HUMAN&rb=1148&re=1229&var=V1206A	tolerated(0.71)	R4GNB2_HUMAN			YES	DENND4C,missense_variant,p.Val1206Ala,ENST00000380432,;DENND4C,missense_variant,p.Val1442Ala,ENST00000602925,NM_017925.5;DENND4C,missense_variant,p.Val1491Ala,ENST00000434457,;DENND4C,missense_variant,p.Val478Ala,ENST00000380427,;DENND4C,missense_variant,p.Val229Ala,ENST00000361024,;DENND4C,missense_variant,p.Val172Ala,ENST00000380424,;DENND4C,3_prime_UTR_variant,,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;							MODERATE	4325/5730	V1206A				Transcript		benign(0.004)	.	ENSP00000473565		CCDS6491.3			1	
DCST1	0	LGGM	GRCh37	1	155006906	155006906	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	171	23	.	.	ENST00000295542.1:c.62-5C>G		p.X21_splice	ENST00000295542	NM_152494.3			0	1	1	UPI000013E269	0		ENST00000295542		ENSG00000163357	26539		194			HGNC	p.L44L		DCST1		SNV							ENST00000525273	protein_coding							G		-/2279							YES	DCST1,splice_region_variant,,ENST00000295542,NM_152494.3;DCST1,splice_region_variant,,ENST00000368419,;DCST1,splice_region_variant,,ENST00000423025,NM_001143687.2;DCST1,splice_region_variant,,ENST00000392480,;DCST2,upstream_gene_variant,,ENST00000368424,NM_144622.2;DCST2,upstream_gene_variant,,ENST00000295536,;DCST1,splice_region_variant,,ENST00000368420,;DCST1,synonymous_variant,p.=,ENST00000525273,;DCST2,upstream_gene_variant,,ENST00000485982,;DCST2,upstream_gene_variant,,ENST00000368423,;							LOW	-/2121		DCST1_HUMAN			Transcript			.	ENSP00000295542		CCDS1083.1			1	
MME	0	LGGM	GRCh37	3	154866372	154866372	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	68	23	.	.	ENST00000460393.1:c.1531A>T	p.Ile511Leu	p.I511L	ENST00000460393	NM_007287.2	511	Ata/Tta	0	1		UPI0000033C41	0	getma.org/pdb.php?prot=NEP_HUMAN&from=484&to=542&var=I511L	ENST00000360490		ENSG00000196549	7154		91	2.115		HGNC	p.I511L		MME		SNV							ENST00000460393	protein_coding	getma.org/?cm=var&var=hg19,3,154866372,A,T&fts=all		Superfamily_domains:SSF55486,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF114		I/L		T	medium	1609/2360		getma.org/?cm=msa&ty=f&p=NEP_HUMAN&rb=484&re=542&var=I511L	tolerated(0.24)	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN				MME,missense_variant,p.Ile511Leu,ENST00000460393,NM_007287.2,NM_000902.3;MME,missense_variant,p.Ile511Leu,ENST00000462745,NM_007288.2;MME,missense_variant,p.Ile511Leu,ENST00000492661,;MME,missense_variant,p.Ile511Leu,ENST00000493237,;MME,missense_variant,p.Ile511Leu,ENST00000360490,NM_007289.2;							MODERATE	1531/2253	I511L	NEP_HUMAN			Transcript		benign(0.007)	.	ENSP00000353679		CCDS3172.1			1	
CTNNA2	0	LGGM	GRCh37	2	80874735	80874735	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	79	24	.	.	ENST00000466387.1:c.2456A>C	p.Gln819Pro	p.Q819P	ENST00000466387		819	cAg/cCg	0	1		UPI0000D9D4EC	0	NA	ENST00000402739		ENSG00000066032	2510		103	3.16		HGNC	p.Q867P		CTNNA2		SNV							ENST00000402739	protein_coding	getma.org/?cm=var&var=hg19,2,80874735,A,C&fts=all		Superfamily_domains:SSF47220,Pfam_domain:PF01044,Gene3D:1.20.120.230,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		Q/P		C	medium	2605/3684		getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=330&re=914&var=Q867P	deleterious(0)	C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,missense_variant,p.Gln819Pro,ENST00000466387,;CTNNA2,missense_variant,p.Gln819Pro,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Gln867Pro,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Gln819Pro,ENST00000541047,;CTNNA2,missense_variant,p.Gln498Pro,ENST00000343114,NM_001282600.1,NM_001282599.1;CTNNA2,missense_variant,p.Gln853Pro,ENST00000361291,;CTNNA2,missense_variant,p.Gln774Pro,ENST00000540488,;							MODERATE	2600/2862	Q867P	CTNA2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000384638		CCDS62944.1			1	
SLC28A3	0	LGGM	GRCh37	9	86894181	86894181	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	27	24	.	.	ENST00000376238.4:c.1948A>T	p.Ser650Cys	p.S650C	ENST00000376238	NM_001199633.1	650	Agc/Tgc	0	1	1	UPI000006F5A6	0	NA	ENST00000376238		ENSG00000197506	16484		51	2.33		HGNC	p.S581C		SLC28A3		SNV							ENST00000537648	protein_coding	getma.org/?cm=var&var=hg19,9,86894181,T,A&fts=all		hmmpanther:PTHR10590:SF14,hmmpanther:PTHR10590		S/C		A	medium	1998/4887		getma.org/?cm=msa&ty=f&p=S28A3_HUMAN&rb=614&re=691&var=S650C	deleterious(0)	F5GYE3_HUMAN			YES	SLC28A3,missense_variant,p.Ser650Cys,ENST00000376238,NM_001199633.1,NM_022127.2;SLC28A3,missense_variant,p.Ser581Cys,ENST00000537648,;RP11-380F14.2,intron_variant,,ENST00000419815,;							MODERATE	1948/2076	S650C	S28A3_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000365413		CCDS6670.1			1	
SYNE1	0	LGGM	GRCh37	6	152771959	152771959	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	54	24	.	.	ENST00000367255.5:c.3196A>C	p.Ser1066Arg	p.S1066R	ENST00000367255	NM_182961.3	1066	Agt/Cgt	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		78	1.355		HGNC	p.S1066R		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152771959,T,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		S/R		G	low	3798/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=884&re=1083&var=S1066R					YES	SYNE1,missense_variant,p.Ser1066Arg,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ser1066Arg,ENST00000265368,;SYNE1,missense_variant,p.Ser1073Arg,ENST00000448038,;SYNE1,missense_variant,p.Ser1073Arg,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ser1132Arg,ENST00000341594,;SYNE1,missense_variant,p.Ser1056Arg,ENST00000367248,;SYNE1,missense_variant,p.Ser1066Arg,ENST00000367253,;SYNE1,missense_variant,p.Ser1066Arg,ENST00000413186,;SYNE1,downstream_gene_variant,,ENST00000495090,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,downstream_gene_variant,,ENST00000474655,;							MODERATE	3196/26394	S1066R	SYNE1_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000356224		CCDS5236.2			1	
AGPAT3	0	LGGM	GRCh37	21	45389095	45389095	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	7	24	.	.	ENST00000398063.2:c.445G>A	p.Glu149Lys	p.E149K	ENST00000398063	NM_001037553.1	149	Gag/Aag	0	1		UPI000004616E	0	NA	ENST00000291572		ENSG00000160216	326		31	2.695		HGNC	p.E149K		AGPAT3		SNV							ENST00000398058	protein_coding	getma.org/?cm=var&var=hg19,21,45389095,G,A&fts=all		hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF9,Pfam_domain:PF01553,SMART_domains:SM00563,Superfamily_domains:0039877		E/K		A	medium	716/5546		getma.org/?cm=msa&ty=f&p=PLCC_HUMAN&rb=74&re=233&var=E149K	deleterious(0)	C9JQX8_HUMAN,C9JL26_HUMAN,C9JK35_HUMAN,C9J184_HUMAN				AGPAT3,missense_variant,p.Glu149Lys,ENST00000398063,NM_001037553.1;AGPAT3,missense_variant,p.Glu149Lys,ENST00000291572,NM_020132.4;AGPAT3,missense_variant,p.Glu149Lys,ENST00000398058,;AGPAT3,missense_variant,p.Glu149Lys,ENST00000398061,;AGPAT3,missense_variant,p.Glu149Lys,ENST00000327505,;AGPAT3,missense_variant,p.Glu149Lys,ENST00000546158,;AGPAT3,missense_variant,p.Glu149Lys,ENST00000422850,;AGPAT3,missense_variant,p.Glu149Lys,ENST00000457068,;AGPAT3,downstream_gene_variant,,ENST00000445582,;AGPAT3,downstream_gene_variant,,ENST00000448287,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000479117,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000481319,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000467358,;AGPAT3,upstream_gene_variant,,ENST00000484865,;							MODERATE	445/1131	E149K	PLCC_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000291572		CCDS13703.1			1	
NUP155	0	LGGM	GRCh37	5	37310756	37310756	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	65	25	.	.	ENST00000231498.3:c.2526C>G	p.Ile842Met	p.I842M	ENST00000231498	NM_153485.2	842	atC/atG	0	1	1	UPI0000001C7F	0	NA	ENST00000231498		ENSG00000113569	8063		90	1.74		HGNC	p.I783M		NUP155		SNV			1				ENST00000381843	protein_coding	getma.org/?cm=var&var=hg19,5,37310756,G,C&fts=all		Pfam_domain:PF03177,hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350		I/M		C	low	2730/8143		getma.org/?cm=msa&ty=f&p=NU155_HUMAN&rb=698&re=1270&var=I842M	tolerated(0.09)	B4DLT2_HUMAN,B3KMK3_HUMAN			YES	NUP155,missense_variant,p.Ile842Met,ENST00000231498,NM_153485.2;NUP155,missense_variant,p.Ile783Met,ENST00000381843,NM_004298.3;NUP155,intron_variant,,ENST00000513532,NM_001278312.1;NUP155,non_coding_transcript_exon_variant,,ENST00000502533,;							MODERATE	2526/4176	I842M	NU155_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000231498		CCDS3921.1			1	
DOCK8	0	LGGM	GRCh37	9	463523	463523	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	29	25	.	.	ENST00000453981.1:c.6075T>A	p.Gly2025=	p.G2025=	ENST00000453981		2025	ggT/ggA	0	1		UPI000034ECCE	0		ENST00000432829		ENSG00000107099	19191		54			HGNC	p.G1957G		DOCK8		SNV			1				ENST00000432829	protein_coding			PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317,Pfam_domain:PF06920,Superfamily_domains:SSF48371		G		A		6187/7452				E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				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,;RP11-165F24.3,intron_variant,,ENST00000415004,;RP11-165F24.3,intron_variant,,ENST00000589287,;RP11-165F24.3,intron_variant,,ENST00000592805,;RP11-165F24.3,intron_variant,,ENST00000591577,;RP11-165F24.3,intron_variant,,ENST00000590518,;RP11-165F24.3,intron_variant,,ENST00000588989,;RP11-165F24.3,intron_variant,,ENST00000593137,;RP11-165F24.3,intron_variant,,ENST00000588474,;RP11-165F24.3,intron_variant,,ENST00000585819,;RP11-165F24.3,intron_variant,,ENST00000589387,;RP11-165F24.3,intron_variant,,ENST00000586805,;RP11-165F24.3,intron_variant,,ENST00000608617,;RP11-165F24.3,upstream_gene_variant,,ENST00000585631,;RP11-165F24.3,upstream_gene_variant,,ENST00000590240,;DOCK8,upstream_gene_variant,,ENST00000462618,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;							LOW	5871/6096		DOCK8_HUMAN			Transcript			.	ENSP00000394888		CCDS55283.1			1	
TRAV8-6	0	LGGM	GRCh37	14	22447166	22447166	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	87	25	.	.	ENST00000390443.3:c.147A>T	p.Ser49=	p.S49=	ENST00000390443		49	tcA/tcT	0	1	1	UPI000011C712	0		ENST00000390443		ENSG00000211795	12151		112			HGNC	p.S49S		TRAV8-6		SNV							ENST00000390443	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19367,hmmpanther:PTHR19367:SF5,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		S		T		367/561							YES	TRAV8-6,synonymous_variant,p.=,ENST00000390443,;							LOW	147/341					Transcript			.	ENSP00000450505					1	
NBAS	0	LGGM	GRCh37	2	15378645	15378645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	45	26	.	.	ENST00000281513.5:c.5890C>A	p.His1964Asn	p.H1964N	ENST00000281513	NM_015909.3	1964	Cac/Aac	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		71	2.28		HGNC	p.H1964N		NBAS		SNV			1				ENST00000281513	protein_coding	getma.org/?cm=var&var=hg19,2,15378645,G,T&fts=all		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		H/N		T	medium	5916/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=1780&re=1979&var=H1964N	deleterious(0)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.His1964Asn,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.His1844Asn,ENST00000441750,;NBAS,missense_variant,p.His1012Asn,ENST00000442506,;NBAS,missense_variant,p.His56Asn,ENST00000417461,;							MODERATE	5890/7116	H1964N	NBAS_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000281513		CCDS1685.1			1	
CARD11	0	LGGM	GRCh37	7	2984011	2984011	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	24	26	.	.	ENST00000396946.4:c.519G>C	p.Leu173=	p.L173=	ENST00000396946	NM_032415.4	173	ctG/ctC	0	1	1	UPI00003FED38	0		ENST00000396946		ENSG00000198286	16393		50			HGNC	p.L173L		CARD11		SNV			1				ENST00000396946	protein_coding			hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10		L		G		923/4366				Q8TES3_HUMAN,E2QRC0_HUMAN			YES	CARD11,synonymous_variant,p.=,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,non_coding_transcript_exon_variant,,ENST00000423194,;							LOW	519/3465		CAR11_HUMAN			Transcript			.	ENSP00000380150		CCDS5336.2			1	
TRIM36	0	LGGM	GRCh37	5	114482795	114482795	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	26	.	.	ENST00000282369.3:c.595G>A	p.Val199Ile	p.V199I	ENST00000282369	NM_018700.3	199	Gtt/Att	0	1	1	UPI000013DCD9	0	getma.org/pdb.php?prot=TRI36_HUMAN&from=79&to=206&var=V199I	ENST00000282369		ENSG00000152503	16280		44	0.995		HGNC	p.V199I		TRIM36		SNV							ENST00000282369	protein_coding	getma.org/?cm=var&var=hg19,5,114482795,C,T&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF29		V/I		T	low	717/4050		getma.org/?cm=msa&ty=f&p=TRI36_HUMAN&rb=79&re=206&var=V199I	tolerated(0.49)	E9PBG3_HUMAN			YES	TRIM36,missense_variant,p.Val187Ile,ENST00000513154,;TRIM36,missense_variant,p.Val199Ile,ENST00000282369,NM_018700.3;TRIM36,missense_variant,p.Val44Ile,ENST00000514154,;TRIM36,downstream_gene_variant,,ENST00000508894,;TRIM36-IT1,downstream_gene_variant,,ENST00000503723,;TRIM36,non_coding_transcript_exon_variant,,ENST00000515104,;TRIM36,non_coding_transcript_exon_variant,,ENST00000513485,;TRIM36,non_coding_transcript_exon_variant,,ENST00000510222,;							MODERATE	595/2187	V199I	TRI36_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000282369		CCDS4115.1			1	
CLSTN2	0	LGGM	GRCh37	3	140123427	140123427	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	19	27	.	.	ENST00000458420.3:c.456T>C	p.Asp152=	p.D152=	ENST00000458420	NM_022131.2	152	gaT/gaC	0	1	1	UPI00001B0051	0		ENST00000458420		ENSG00000158258	17448		46			HGNC	p.D152D		CLSTN2		SNV							ENST00000458420	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205		D		C		646/14202				B3KUA5_HUMAN,B3KU27_HUMAN			YES	CLSTN2,synonymous_variant,p.=,ENST00000458420,NM_022131.2;AC092988.1,downstream_gene_variant,,ENST00000580582,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;							LOW	456/2868		CSTN2_HUMAN			Transcript			.	ENSP00000402460		CCDS3112.1			1	
ASB18	0	LGGM	GRCh37	2	237149924	237149924	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	61	27	.	.	ENST00000409749.3:c.327A>T	p.Ser109=	p.S109=	ENST00000409749	NM_212556.2	109	tcA/tcT	0	1	1	UPI00015D60A6	0		ENST00000409749		ENSG00000182177	19770		88			HGNC	p.S109S		ASB18		SNV							ENST00000409749	protein_coding			hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF7,Superfamily_domains:SSF48403		S		A		327/1401							YES	ASB18,splice_region_variant,p.=,ENST00000330842,;ASB18,splice_region_variant,p.=,ENST00000409749,NM_212556.2;ASB18,intron_variant,,ENST00000430053,;AC079135.1,intron_variant,,ENST00000415226,;							LOW	327/1401		ASB18_HUMAN			Transcript			.	ENSP00000386532		CCDS46548.1			1	
WDR63	0	LGGM	GRCh37	1	85550257	85550257	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	160	27	.	.	ENST00000294664.6:c.419A>G	p.Glu140Gly	p.E140G	ENST00000294664	NM_145172.3	140	gAa/gGa	0	1	1	UPI00000744F1	0	NA	ENST00000294664		ENSG00000162643	30711		187	2.36		HGNC	p.E140G		WDR63		SNV							ENST00000294664	protein_coding	getma.org/?cm=var&var=hg19,1,85550257,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442		E/G		G	medium	599/2995		getma.org/?cm=msa&ty=f&p=WDR63_HUMAN&rb=1&re=200&var=E140G	tolerated(0.08)				YES	WDR63,missense_variant,p.Glu140Gly,ENST00000294664,NM_145172.3;WDR63,missense_variant,p.Glu140Gly,ENST00000370596,;WDR63,missense_variant,p.Glu140Gly,ENST00000326813,NM_001288563.1;WDR63,downstream_gene_variant,,ENST00000528899,;WDR63,missense_variant,p.Glu140Gly,ENST00000464801,;							MODERATE	419/2676	E140G	WDR63_HUMAN			Transcript		benign(0.019)	.	ENSP00000294664		CCDS702.1			1	
AKR1D1	0	LGGM	GRCh37	7	137790131	137790131	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	50	27	.	.	ENST00000242375.3:c.535A>T	p.Ile179Phe	p.I179F	ENST00000242375	NM_005989.3	179	Atc/Ttc	0	1	1	UPI0000125764	0	getma.org/pdb.php?prot=AK1D1_HUMAN&from=20&to=304&var=I179F	ENST00000242375		ENSG00000122787	388		77	1.91		HGNC	p.I179F		AKR1D1		SNV			1				ENST00000242375	protein_coding	getma.org/?cm=var&var=hg19,7,137790131,A,T&fts=all		hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430		I/F		T	medium	577/2347		getma.org/?cm=msa&ty=f&p=AK1D1_HUMAN&rb=20&re=304&var=I179F	deleterious(0)	C4PL35_HUMAN			YES	AKR1D1,missense_variant,p.Ile179Phe,ENST00000242375,NM_005989.3;AKR1D1,missense_variant,p.Ile179Phe,ENST00000432161,NM_001190907.1;AKR1D1,intron_variant,,ENST00000411726,NM_001190906.1;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;							MODERATE	535/981	I179F	AK1D1_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000242375		CCDS5846.1			1	
GOLGA8S	0	LGGM	GRCh37	15	23606373	23606373	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	29	27	.	.	ENST00000562295.1:c.880C>A	p.Pro294Thr	p.P294T	ENST00000562295		294	Cct/Act	0	1	1	UPI00024672CC	0		ENST00000562295		ENSG00000261739	44409		56			HGNC	p.P294T		GOLGA8S		SNV							ENST00000562295	protein_coding			Pfam_domain:PF15070,hmmpanther:PTHR10881,Low_complexity_(Seg):seg		P/T		A		880/1878			deleterious(0)	H3BPF8_HUMAN			YES	GOLGA8S,missense_variant,p.Pro294Thr,ENST00000562295,;AC100756.1,upstream_gene_variant,,ENST00000459602,;RN7SL536P,upstream_gene_variant,,ENST00000491146,;GOLGA8S,non_coding_transcript_exon_variant,,ENST00000604046,;							MODERATE	880/1878					Transcript		probably_damaging(0.968)	.	ENSP00000455298					1	
CNTN3	0	LGGM	GRCh37	3	74350564	74350564	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	47	28	.	.	ENST00000263665.6:c.2080A>T	p.Arg694Ter	p.R694*	ENST00000263665	NM_020872.1	694	Aga/Tga	0	1	1	UPI00001A7974	0	NA	ENST00000263665		ENSG00000113805	2173		75	0		HGNC	p.R694X		CNTN3		SNV							ENST00000263665	protein_coding	getma.org/?cm=var&var=hg19,3,74350564,T,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,Superfamily_domains:SSF49265		R/*		A	NA	2108/4948		NA					YES	CNTN3,stop_gained,p.Arg694Ter,ENST00000263665,NM_020872.1;							HIGH	2080/3087	R694*	CNTN3_HUMAN			Transcript			.	ENSP00000263665		CCDS33790.1			1	
CACNA1E	0	LGGM	GRCh37	1	181549833	181549833	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	150	28	.	.	ENST00000367573.2:c.872A>G	p.Gln291Arg	p.Q291R	ENST00000367573	NM_001205293.1	291	cAg/cGg	0	1	1	UPI00004588C2	0	getma.org/pdb.php?prot=CAC1E_HUMAN&from=127&to=350&var=Q291R	ENST00000367573		ENSG00000198216	1392		178	0.855		HGNC	p.Q242R		CACNA1E		SNV							ENST00000358338	protein_coding	getma.org/?cm=var&var=hg19,1,181549833,A,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324		Q/R		G	low	872/7067		getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=127&re=350&var=Q291R	deleterious(0.01)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.Gln291Arg,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Gln242Arg,ENST00000357570,;CACNA1E,missense_variant,p.Gln291Arg,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Gln242Arg,ENST00000358338,;CACNA1E,missense_variant,p.Gln291Arg,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Gln291Arg,ENST00000360108,;CACNA1E,missense_variant,p.Gln291Arg,ENST00000524607,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;							MODERATE	872/6942	Q291R	CAC1E_HUMAN			Transcript		benign(0.227)	.	ENSP00000356545		CCDS55664.1			1	
B4GALNT3	0	LGGM	GRCh37	12	661259	661259	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	41	28	.	.	ENST00000266383.5:c.1138T>A	p.Tyr380Asn	p.Y380N	ENST00000266383	NM_173593.3	380	Tat/Aat	0	1	1	UPI0000366851	0	NA	ENST00000266383		ENSG00000139044	24137		69	2.135		HGNC	p.Y380N		B4GALNT3		SNV							ENST00000266383	protein_coding	getma.org/?cm=var&var=hg19,12,661259,T,A&fts=all		hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF15		Y/N		A	medium	1151/5068		getma.org/?cm=msa&ty=f&p=B4GN3_HUMAN&rb=278&re=477&var=Y380N	deleterious(0)				YES	B4GALNT3,missense_variant,p.Tyr380Asn,ENST00000266383,NM_173593.3;B4GALNT3,missense_variant,p.Tyr282Asn,ENST00000322843,;B4GALNT3,downstream_gene_variant,,ENST00000544638,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;							MODERATE	1138/2997	Y380N	B4GN3_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000266383		CCDS8504.1			1	
SETBP1	0	LGGM	GRCh37	18	42530535	42530535	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	55	28	.	.	ENST00000282030.5:c.1230T>C	p.Ser410=	p.S410=	ENST00000282030	NM_015559.2	410	tcT/tcC	0	1	1	UPI0000201C54	0		ENST00000282030		ENSG00000152217	15573		83			HGNC	p.S410S		SETBP1		SNV			1				ENST00000282030	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF322		S		C		1526/9899				K7ES17_HUMAN			YES	SETBP1,synonymous_variant,p.=,ENST00000282030,NM_015559.2;							LOW	1230/4791		SETBP_HUMAN			Transcript			.	ENSP00000282030		CCDS11923.2			1	
GLS	0	LGGM	GRCh37	2	191759903	191759903	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	38	28	.	.	ENST00000320717.3:c.412A>T	p.Ser138Cys	p.S138C	ENST00000320717	NM_014905.4	138	Agc/Tgc	0	1	1	UPI000012B7F6	0	getma.org/pdb.php?prot=GLSK_HUMAN&from=1&to=200&var=S138C	ENST00000320717		ENSG00000115419	4331		66	1.32		HGNC	p.S138C		GLS		SNV							ENST00000320717	protein_coding	getma.org/?cm=var&var=hg19,2,191759903,A,T&fts=all		hmmpanther:PTHR12544		S/C		T	low	670/4834		getma.org/?cm=msa&ty=f&p=GLSK_HUMAN&rb=1&re=200&var=S138C	deleterious(0)	Q53TX0_HUMAN,Q53S89_HUMAN,Q53RX0_HUMAN,C9JIJ6_HUMAN,B7Z509_HUMAN			YES	GLS,missense_variant,p.Ser138Cys,ENST00000320717,NM_014905.4;GLS,missense_variant,p.Ser138Cys,ENST00000338435,NM_001256310.1;GLS,non_coding_transcript_exon_variant,,ENST00000479552,;GLS,non_coding_transcript_exon_variant,,ENST00000496170,;GLS,upstream_gene_variant,,ENST00000469774,;							MODERATE	412/2010	S138C	GLSK_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000317379		CCDS2308.1			1	
PDE1C	0	LGGM	GRCh37	7	31918721	31918721	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	33	28	.	.	ENST00000396193.1:c.493T>A	p.Trp165Arg	p.W165R	ENST00000396193	NM_001191058.1	165	Tgg/Agg	0	1		UPI0000127BE9	0	NA	ENST00000321453		ENSG00000154678	8776		61	2.87		HGNC	p.W105R		PDE1C		SNV							ENST00000396191	protein_coding	getma.org/?cm=var&var=hg19,7,31918721,A,T&fts=all		Pfam_domain:PF08499,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32		W/R		T	medium	773/2898		getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=82&re=142&var=W105R	deleterious(0)	Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,missense_variant,p.Trp105Arg,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Trp165Arg,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Trp105Arg,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Trp105Arg,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Trp105Arg,ENST00000396182,NM_001191056.1;PDE1C,downstream_gene_variant,,ENST00000396189,;PDE1C,non_coding_transcript_exon_variant,,ENST00000464881,;PDE1C,non_coding_transcript_exon_variant,,ENST00000482681,;							MODERATE	313/2130	W105R	PDE1C_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000318105		CCDS55099.1			1	
RGSL1	0	LGGM	GRCh37	1	182509496	182509496	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	81	29	.	.	ENST00000294854.8:c.2609A>G	p.His870Arg	p.H870R	ENST00000294854	NM_001137669.1	870	cAc/cGc	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		110	2.35		HGNC	p.H870R		RGSL1		SNV							ENST00000294854	protein_coding	getma.org/?cm=var&var=hg19,1,182509496,A,G&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		H/R		G	medium	2629/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=756&re=955&var=H870R	deleterious(0.02)	H3BNQ0_HUMAN			YES	RGSL1,missense_variant,p.His870Arg,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.His905Arg,ENST00000542961,;RGSL1,missense_variant,p.His905Arg,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000415960,;RGSL1,non_coding_transcript_exon_variant,,ENST00000436031,;							MODERATE	2609/3231	H870R	RGSL_HUMAN			Transcript		benign(0.051)	.	ENSP00000457748		CCDS58049.1			1	
PPFIA4	0	LGGM	GRCh37	1	203032971	203032971	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	51	29	.	.	ENST00000272198.6:c.1372G>A	p.Asp458Asn	p.D458N	ENST00000272198	NM_015053.1	458	Gac/Aac	0	1		UPI0001661778	0	getma.org/pdb.php?prot=LIPA4_HUMAN&from=458&to=522&var=D458N	ENST00000447715		ENSG00000143847	9248		80	2.39		HGNC	p.D942N		PPFIA4		SNV							ENST00000447715	protein_coding	getma.org/?cm=var&var=hg19,1,203032971,G,A&fts=all		hmmpanther:PTHR12587:SF5,hmmpanther:PTHR12587,SMART_domains:SM00454,Superfamily_domains:SSF47769		D/N		A	medium	3265/6349		getma.org/?cm=msa&ty=f&p=LIPA4_HUMAN&rb=458&re=522&var=D458N	deleterious(0)	B1N949_HUMAN				PPFIA4,missense_variant,p.Asp943Asn,ENST00000367240,;PPFIA4,missense_variant,p.Asp449Asn,ENST00000295706,;PPFIA4,missense_variant,p.Asp942Asn,ENST00000447715,;PPFIA4,missense_variant,p.Asp458Asn,ENST00000272198,NM_015053.1;PPFIA4,missense_variant,p.Asp449Asn,ENST00000599966,;PPFIA4,missense_variant,p.Asp671Asn,ENST00000414050,;PPFIA4,missense_variant,p.Asp710Asn,ENST00000600426,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000486360,;PPFIA4,non_coding_transcript_exon_variant,,ENST00000594656,;PPFIA4,upstream_gene_variant,,ENST00000597023,;							MODERATE	2824/3558	D458N				Transcript		possibly_damaging(0.905)	.	ENSP00000402576					1	
PSD3	0	LGGM	GRCh37	8	18730050	18730050	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	26	30	.	.	ENST00000327040.8:c.324A>T	p.Thr108=	p.T108=	ENST00000327040	NM_015310.3	108	acA/acT	0	1		UPI0001AE6EBA	0		ENST00000440756		ENSG00000156011	19093		56			HGNC	p.T43T		PSD3		SNV							ENST00000523619	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106		T		A		427/11693				J3KQK0_HUMAN				PSD3,synonymous_variant,p.=,ENST00000440756,;PSD3,synonymous_variant,p.=,ENST00000327040,NM_015310.3;PSD3,synonymous_variant,p.=,ENST00000523619,;							LOW	324/3150					Transcript			.	ENSP00000401704					1	
NRXN1	0	LGGM	GRCh37	2	51253553	51253553	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	37	31	.	.	ENST00000404971.1:c.827A>T	p.Gln276Leu	p.Q276L	ENST00000404971	NM_001135659.1	276	cAa/cTa	0	1		UPI0000130A9D	0	NA	ENST00000406316		ENSG00000179915	8008		68	-0.345		HGNC	p.Q276L		NRXN1		SNV			1				ENST00000404971	protein_coding	getma.org/?cm=var&var=hg19,2,51253553,T,A&fts=all						A	neutral	-/7505		getma.org/?cm=msa&ty=f&p=F5H618_HUMAN&rb=201&re=400&var=Q276L		Q08AH0_HUMAN				NRXN1,missense_variant,p.Gln276Leu,ENST00000404971,NM_001135659.1;NRXN1,intron_variant,,ENST00000406316,NM_004801.4;NRXN1,intron_variant,,ENST00000401669,;NRXN1,intron_variant,,ENST00000405472,;NRXN1,intron_variant,,ENST00000405581,;NRXN1,intron_variant,,ENST00000402717,;NRXN1,intron_variant,,ENST00000406859,;NRXN1,intron_variant,,ENST00000496792,;							MODIFIER	-/4434	Q276L	NRX1A_HUMAN			Transcript			.	ENSP00000384311		CCDS54360.1			1	
LAMA2	0	LGGM	GRCh37	6	129465101	129465101	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	17	34	.	.	ENST00000421865.2:c.695T>G	p.Leu232Arg	p.L232R	ENST00000421865	NM_001079823.1	232	cTg/cGg	0	1	1	UPI00003673E0	0	getma.org/pdb.php?prot=LAMA2_HUMAN&from=39&to=285&var=L232R	ENST00000421865		ENSG00000196569	6482		51	3.785		HGNC	p.L232R		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129465101,T,G&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00136		L/R		G	high	744/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=39&re=285&var=L232R	deleterious(0)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Leu232Arg,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	695/9369	L232R	LAMA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000400365		CCDS5138.1			1	
ASTN1	0	LGGM	GRCh37	1	176863937	176863937	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	48	34	.	.	ENST00000361833.2:c.2701C>T	p.Arg901Trp	p.R901W	ENST00000361833		901	Cgg/Tgg	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		82	1.245		HGNC	p.R901W	rs777093050,COSM3740834,COSM3966060	ASTN1		SNV						0,1,1	ENST00000367657	protein_coding	getma.org/?cm=var&var=hg19,1,176863937,G,A&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8,Low_complexity_(Seg):seg,SMART_domains:SM00457		R/W		A	low	2715/7116	7.49E-05	getma.org/?cm=msa&ty=f&p=ASTN1_HUMAN&rb=801&re=1000&var=R909W	tolerated(0.17)	Q96BL7_HUMAN			YES	ASTN1,missense_variant,p.Arg909Trp,ENST00000367654,NM_004319.1;ASTN1,missense_variant,p.Arg901Trp,ENST00000361833,;ASTN1,missense_variant,p.Arg901Trp,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Arg901Trp,ENST00000424564,NM_207108.1;					0,1,1		MODERATE	2701/3885	R909W	ASTN1_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000354536	4.12E-05	CCDS1319.1			1	
UGT2A1	0	LGGM	GRCh37	4	70455335	70455335	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	65	35	.	.	ENST00000457664.2:c.1366C>T	p.His456Tyr	p.H456Y	ENST00000457664	NM_001105677.2	456	Cac/Tac	0	1	1	UPI000013DE58	0	getma.org/pdb.php?prot=UD2A1_HUMAN&from=21&to=524&var=H447Y	ENST00000503640		ENSG00000173610	12542		100	1.81		HGNC	p.H403Y		UGT2A1		SNV							ENST00000512704	protein_coding	getma.org/?cm=var&var=hg19,4,70455335,G,A&fts=all		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116,Superfamily_domains:SSF53756		H/Y		A	low	1395/2595		getma.org/?cm=msa&ty=f&p=UD2A1_HUMAN&rb=21&re=524&var=H447Y	deleterious(0.03)	D6RHF3_HUMAN			YES	UGT2A1,missense_variant,p.His447Tyr,ENST00000503640,NM_006798.3;UGT2A2,missense_variant,p.His456Tyr,ENST00000457664,NM_001105677.2;UGT2A1,missense_variant,p.His403Tyr,ENST00000512704,;UGT2A1,missense_variant,p.His613Tyr,ENST00000514019,NM_001252274.1;UGT2A1,missense_variant,p.His447Tyr,ENST00000286604,NM_001252275.1;UGT2A2,missense_variant,p.His457Tyr,ENST00000604629,;UGT2A2,missense_variant,p.His413Tyr,ENST00000604021,;UGT2A1,non_coding_transcript_exon_variant,,ENST00000502343,;RP11-401E5.2,upstream_gene_variant,,ENST00000506662,;							MODERATE	1339/1584	H447Y	UD2A1_HUMAN			Transcript		benign(0.247)	.	ENSP00000424478		CCDS3529.1			1	
SEL1L2	0	LGGM	GRCh37	20	13912358	13912358	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	49	35	.	.	ENST00000378072.5:c.174T>A	p.Ser58Arg	p.S58R	ENST00000378072	NM_001271539.1	58	agT/agA	0	1		UPI000003BCBA	0	NA	ENST00000284951		ENSG00000101251	15897		84	0		HGNC	p.S58R		SEL1L2		SNV							ENST00000284951	protein_coding	getma.org/?cm=var&var=hg19,20,13912358,A,T&fts=all		hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102		S/R		T	neutral	249/2224		getma.org/?cm=msa&ty=f&p=SE1L2_HUMAN&rb=1&re=109&var=S58R	tolerated(0.51)	C9JNX3_HUMAN				SEL1L2,missense_variant,p.Ser58Arg,ENST00000284951,;SEL1L2,missense_variant,p.Ser58Arg,ENST00000378072,NM_001271539.1;SEL1L2,5_prime_UTR_variant,,ENST00000473203,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000477435,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000495437,;SEL1L2,missense_variant,p.Ser58Arg,ENST00000423870,;							MODERATE	174/2067	S58R	SE1L2_HUMAN			Transcript		benign(0.001)	.	ENSP00000284951					1	
DDX60L	0	LGGM	GRCh37	4	169362511	169362511	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	40	35	.	.	ENST00000260184.7:c.1271G>A	p.Arg424Lys	p.R424K	ENST00000260184	NM_001012967.1	424	aGa/aAa	0	1	1	UPI0001553B03	0	NA	ENST00000260184		ENSG00000181381	26429		75	-0.345		HGNC	p.R424K		DDX60L		SNV							ENST00000260184	protein_coding	getma.org/?cm=var&var=hg19,4,169362511,C,T&fts=all		hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF56		R/K		T	neutral	1492/6754		getma.org/?cm=msa&ty=f&p=DDX6L_HUMAN&rb=1&re=712&var=R424K	tolerated(0.7)	D6RIU1_HUMAN,D6RBA2_HUMAN,D6RB62_HUMAN			YES	DDX60L,missense_variant,p.Arg424Lys,ENST00000511577,;DDX60L,missense_variant,p.Arg424Lys,ENST00000260184,NM_001012967.1;DDX60L,missense_variant,p.Arg424Lys,ENST00000505890,;DDX60L,missense_variant,p.Arg152Lys,ENST00000505863,;							MODERATE	1271/5121	R424K	DDX6L_HUMAN			Transcript		benign(0.001)	.	ENSP00000260184		CCDS47161.1			1	
WDR87	0	LGGM	GRCh37	19	38383910	38383910	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	54	35	.	.	ENST00000303868.5:c.2316T>C	p.Gly772=	p.G772=	ENST00000303868	NM_031951.3	772	ggT/ggC	0	1	1	UPI0001662BC1	0		ENST00000303868		ENSG00000171804	29934		89			HGNC	p.G811G		WDR87		SNV							ENST00000447313	protein_coding			hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		G		G		2541/8847				B4DXE9_HUMAN			YES	WDR87,synonymous_variant,p.=,ENST00000447313,;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.3;WDR87,downstream_gene_variant,,ENST00000473328,;							LOW	2316/8622		WDR87_HUMAN			Transcript			.	ENSP00000368025		CCDS46063.1			1	
ZNF683	0	LGGM	GRCh37	1	26694991	26694991	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	26	36	.	.	ENST00000374204.1:c.72C>T	p.Ser24=	p.S24=	ENST00000374204	NM_173574.2	24	tcC/tcT	0	1		UPI0000EE2F2D	0		ENST00000403843		ENSG00000176083	28495		62			HGNC	p.S24S		ZNF683		SNV							ENST00000453132	protein_coding			Low_complexity_(Seg):seg		S		A		150/1670								ZNF683,synonymous_variant,p.=,ENST00000436292,;ZNF683,synonymous_variant,p.=,ENST00000403843,;ZNF683,synonymous_variant,p.=,ENST00000374204,NM_173574.2,NM_001114759.1;ZNF683,synonymous_variant,p.=,ENST00000349618,;ZNF683,synonymous_variant,p.=,ENST00000455900,;ZNF683,synonymous_variant,p.=,ENST00000451801,;ZNF683,synonymous_variant,p.=,ENST00000416125,;ZNF683,synonymous_variant,p.=,ENST00000423508,;ZNF683,synonymous_variant,p.=,ENST00000453132,;ZNF683,synonymous_variant,p.=,ENST00000454975,;							LOW	72/1575		ZN683_HUMAN			Transcript			.	ENSP00000384782					1	
TP53	0	LGGM	GRCh37	17	7576928	7576928	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	10	37	.	.	ENST00000269305.4:c.920-2A>T		p.X307_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		47			HGNC	-	TP53_g.13990A>T,COSM131541,COSM131542,COSM3717624,COSM1646822	TP53		SNV			1			0,1,1,1,1	ENST00000359597	protein_coding							A		-/2579				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			YES	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,,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,splice_acceptor_variant,,ENST00000510385,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;					0,1,1,1,1		HIGH	920/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
DOCK3	0	LGGM	GRCh37	3	51308368	51308368	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	51	38	.	.	ENST00000266037.9:c.2478G>A	p.Gly826=	p.G826=	ENST00000266037	NM_004947.4	826	ggG/ggA	0	1	1	UPI000007412C	0		ENST00000266037		ENSG00000088538	2989		89			HGNC	p.G826G		DOCK3		SNV							ENST00000266037	protein_coding			hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF66,Superfamily_domains:SSF48371		G		A		2501/8755							YES	DOCK3,synonymous_variant,p.=,ENST00000266037,NM_004947.4;							LOW	2478/6093		DOCK3_HUMAN			Transcript			.	ENSP00000266037		CCDS46835.1			1	
DOCK3	0	LGGM	GRCh37	3	51393917	51393917	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	58	38	.	.	ENST00000266037.9:c.4496G>C	p.Arg1499Thr	p.R1499T	ENST00000266037	NM_004947.4	1499	aGg/aCg	0	1	1	UPI000007412C	0	getma.org/pdb.php?prot=DOCK3_HUMAN&from=1443&to=1628&var=R1499T	ENST00000266037		ENSG00000088538	2989		96	0.24		HGNC	p.R1499T		DOCK3		SNV							ENST00000266037	protein_coding	getma.org/?cm=var&var=hg19,3,51393917,G,C&fts=all		Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF66		R/T		C	neutral	4519/8755		getma.org/?cm=msa&ty=f&p=DOCK3_HUMAN&rb=1443&re=1628&var=R1499T	tolerated(0.09)				YES	DOCK3,missense_variant,p.Arg1499Thr,ENST00000266037,NM_004947.4;							MODERATE	4496/6093	R1499T	DOCK3_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000266037		CCDS46835.1			1	
NALCN	0	LGGM	GRCh37	13	101763507	101763507	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	119	39	.	.	ENST00000251127.6:c.2263A>G	p.Ser755Gly	p.S755G	ENST00000251127	NM_052867.2	755	Agc/Ggc	0	1	1	UPI000004EBBD	0	NA	ENST00000251127		ENSG00000102452	19082		158	0.6		HGNC	p.S755G		NALCN		SNV			1				ENST00000251127	protein_coding	getma.org/?cm=var&var=hg19,13,101763507,T,C&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176		S/G		C	neutral	2345/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=599&re=798&var=S755G	tolerated(0.27)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Ser755Gly,ENST00000251127,NM_052867.2;							MODERATE	2263/5217	S755G	NALCN_HUMAN			Transcript		benign(0.005)	.	ENSP00000251127		CCDS9498.1			1	
TBC1D9	0	LGGM	GRCh37	4	141600297	141600297	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	41	39	.	.	ENST00000442267.2:c.650T>A	p.Leu217Gln	p.L217Q	ENST00000442267	NM_015130.2	217	cTg/cAg	0	1	1	UPI00001C1E18	0	NA	ENST00000442267		ENSG00000109436	21710		80	1.625		HGNC	p.L217Q		TBC1D9		SNV							ENST00000442267	protein_coding	getma.org/?cm=var&var=hg19,4,141600297,A,T&fts=all		hmmpanther:PTHR22957:SF190,hmmpanther:PTHR22957		L/Q		T	low	725/5306		getma.org/?cm=msa&ty=f&p=TBCD9_HUMAN&rb=214&re=292&var=L217Q	deleterious(0)				YES	TBC1D9,missense_variant,p.Leu217Gln,ENST00000442267,NM_015130.2;TBC1D9,upstream_gene_variant,,ENST00000514787,;							MODERATE	650/3801	L217Q	TBCD9_HUMAN			Transcript		benign(0.377)	.	ENSP00000411197		CCDS47136.1			1	
BOD1L1	0	LGGM	GRCh37	4	13612588	13612588	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	203	40	.	.	ENST00000040738.5:c.1461G>A	p.Glu487=	p.E487=	ENST00000040738	NM_148894.2	487	gaG/gaA	0	1	1	UPI000066D9E3	0		ENST00000040738		ENSG00000038219	31792		243			HGNC	p.E487E	rs536964051	BOD1L1		SNV							ENST00000040738	protein_coding		T:0	hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		E		T		1597/10565					T:0	T:0	YES	BOD1L1,synonymous_variant,p.=,ENST00000040738,NM_148894.2;BOD1L1,downstream_gene_variant,,ENST00000482713,;		T:0.0000					LOW	1461/9156		BD1L1_HUMAN		T:0	Transcript			.	ENSP00000040738		CCDS3411.2		T:0	1	
OR2A5	0	LGGM	GRCh37	7	143748237	143748237	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	34	40	.	.	ENST00000408906.2:c.743T>A	p.Val248Glu	p.V248E	ENST00000408906	NM_012365.1	248	gTg/gAg	0	1	1	UPI0000061F52	0	NA	ENST00000408906		ENSG00000221836	8232		74	3.815		HGNC	p.V248E		OR2A5		SNV							ENST00000408906	protein_coding	getma.org/?cm=var&var=hg19,7,143748237,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/E		A	high	777/1013		getma.org/?cm=msa&ty=f&p=OR2A5_HUMAN&rb=139&re=283&var=V248E	deleterious(0)				YES	OR2A5,missense_variant,p.Val248Glu,ENST00000408906,NM_012365.1;							MODERATE	743/936	V248E	OR2A5_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000386208		CCDS43668.1			1	
GABRA6	0	LGGM	GRCh37	5	161116669	161116669	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	8	41	.	.	ENST00000274545.5:c.557A>T	p.Tyr186Phe	p.Y186F	ENST00000274545		186	tAt/tTt	0	1	1	UPI000013DA14	0	getma.org/pdb.php?prot=GBRA6_HUMAN&from=32&to=240&var=Y186F	ENST00000274545		ENSG00000145863	4080		49	0.725		HGNC	p.Y186F		GABRA6		SNV							ENST00000274545	protein_coding	getma.org/?cm=var&var=hg19,5,161116669,A,T&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01079		Y/F		T	neutral	990/2128		getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=Y186F	tolerated(0.11)	Q71UU0_HUMAN			YES	GABRA6,missense_variant,p.Tyr176Phe,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Tyr186Phe,ENST00000274545,;GABRA6,missense_variant,p.Tyr126Phe,ENST00000520000,;GABRA6,missense_variant,p.Tyr106Phe,ENST00000523691,;GABRA6,missense_variant,p.Tyr133Phe,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,;							MODERATE	557/1362	Y186F	GBRA6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000274545		CCDS4356.1			1	
ZNF195	0	LGGM	GRCh37	11	3381239	3381239	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	17	41	.	.	ENST00000399602.4:c.999C>T	p.Gly333=	p.G333=	ENST00000399602	NM_001130520.2	333	ggC/ggT	0	1	1	UPI0000D6258D	0		ENST00000399602		ENSG00000005801	12986		58			HGNC	p.G333G		ZNF195		SNV							ENST00000399602	protein_coding			Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF87,Superfamily_domains:SSF57667		G		A		1126/2369							YES	ZNF195,synonymous_variant,p.=,ENST00000354599,NM_007152.4,NM_001256825.1,NM_001242843.1;ZNF195,synonymous_variant,p.=,ENST00000429541,;ZNF195,synonymous_variant,p.=,ENST00000399602,NM_001130520.2;ZNF195,synonymous_variant,p.=,ENST00000343338,;ZNF195,synonymous_variant,p.=,ENST00000005082,NM_001130519.2;ZNF195,synonymous_variant,p.=,ENST00000526601,NM_001242841.1;ZNF195,3_prime_UTR_variant,,ENST00000438262,;ZNF195,intron_variant,,ENST00000528796,;ZNF195,downstream_gene_variant,,ENST00000528410,;ZNF195,downstream_gene_variant,,ENST00000533036,;ZNF195,downstream_gene_variant,,ENST00000534569,;ZNF195,downstream_gene_variant,,ENST00000529678,;ZNF195,downstream_gene_variant,,ENST00000427810,;ZNF195,downstream_gene_variant,,ENST00000524857,;ZNF195,downstream_gene_variant,,ENST00000528636,;ZNF195,downstream_gene_variant,,ENST00000330692,;ZNF195,downstream_gene_variant,,ENST00000528218,;ZNF195,downstream_gene_variant,,ENST00000525313,;ZNF195,downstream_gene_variant,,ENST00000526540,;ZNF195,downstream_gene_variant,,ENST00000526598,;ZNF195,downstream_gene_variant,,ENST00000530643,;ZNF195,downstream_gene_variant,,ENST00000529789,;ZNF195,downstream_gene_variant,,ENST00000529228,;							LOW	999/1890		ZN195_HUMAN			Transcript			.	ENSP00000382511		CCDS44522.1			1	
PLBD1	0	LGGM	GRCh37	12	14688716	14688716	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	32	42	.	.	ENST00000240617.5:c.721A>T	p.Ile241Phe	p.I241F	ENST00000240617	NM_024829.5	241	Atc/Ttc	0	1	1	UPI00004565DA	0	getma.org/pdb.php?prot=PLBL1_HUMAN&from=12&to=548&var=I241F	ENST00000240617		ENSG00000121316	26215		74	2.65		HGNC	p.I241F		PLBD1		SNV							ENST00000240617	protein_coding	getma.org/?cm=var&var=hg19,12,14688716,T,A&fts=all		hmmpanther:PTHR12370,Pfam_domain:PF04916		I/F		A	medium	1374/2426		getma.org/?cm=msa&ty=f&p=PLBL1_HUMAN&rb=12&re=548&var=I241F	deleterious(0)	F5H053_HUMAN			YES	PLBD1,missense_variant,p.Ile241Phe,ENST00000240617,NM_024829.5;PLBD1,downstream_gene_variant,,ENST00000540572,;RP11-502N13.2,downstream_gene_variant,,ENST00000544122,;PLBD1,3_prime_UTR_variant,,ENST00000541618,;PLBD1,non_coding_transcript_exon_variant,,ENST00000541800,;							MODERATE	721/1662	I241F	PLBL1_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000240617		CCDS31751.1			1	
AHNAK2	0	LGGM	GRCh37	14	105408025	105408025	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	25	43	.	.	ENST00000333244.5:c.13763A>T	p.Glu4588Val	p.E4588V	ENST00000333244	NM_138420.2	4588	gAg/gTg	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		68	2.045		HGNC	p.E4588V	rs754074042	AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105408025,T,A&fts=all				E/V		A	medium	13883/18254	3.01E-05	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=4401&re=4600&var=E4588V					YES	AHNAK2,missense_variant,p.Glu4588Val,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							MODERATE	13763/17388	E4588V	AHNK2_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000353114	1.65E-05	CCDS45177.1			1	
FLG	0	LGGM	GRCh37	1	152282665	152282665	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	253	44	.	.	ENST00000368799.1:c.4697C>A	p.Thr1566Asn	p.T1566N	ENST00000368799	NM_002016.1	1566	aCt/aAt	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		297	1.39		HGNC	p.T1566N		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152282665,G,T&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516		T/N		T	low	4733/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1552&re=1603&var=T1566N		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Thr1566Asn,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							MODERATE	4697/12186	T1566N	FILA_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000357789		CCDS30860.1			1	
SNAP23	0	LGGM	GRCh37	15	42807511	42807511	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	29	44	.	.	ENST00000249647.3:c.225A>T	p.Glu75Asp	p.E75D	ENST00000249647	NM_003825.3	75	gaA/gaT	0	1	1	UPI0000000A2C	0	getma.org/pdb.php?prot=SNP23_HUMAN&from=14&to=76&var=E75D	ENST00000249647		ENSG00000092531	11131		73	-1.08		HGNC	p.E75D		SNAP23		SNV							ENST00000397138	protein_coding	getma.org/?cm=var&var=hg19,15,42807511,A,T&fts=all		Gene3D:1.20.5.110,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50192,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF4,SMART_domains:SM00397,Superfamily_domains:SSF58038		E/D		T	neutral	693/2687		getma.org/?cm=msa&ty=f&p=SNP23_HUMAN&rb=14&re=76&var=E75D	tolerated(0.99)	H3BV99_HUMAN,H3BR18_HUMAN,H3BM38_HUMAN,A8K287_HUMAN			YES	SNAP23,missense_variant,p.Glu75Asp,ENST00000249647,NM_003825.3;SNAP23,missense_variant,p.Glu75Asp,ENST00000349777,NM_130798.2;SNAP23,missense_variant,p.Glu75Asp,ENST00000567094,;SNAP23,missense_variant,p.Glu75Asp,ENST00000564153,;SNAP23,missense_variant,p.Glu26Asp,ENST00000568841,;SNAP23,missense_variant,p.Glu32Asp,ENST00000566327,;SNAP23,missense_variant,p.Glu75Asp,ENST00000568859,;SNAP23,missense_variant,p.Glu75Asp,ENST00000561526,;SNAP23,missense_variant,p.Glu26Asp,ENST00000563830,;SNAP23,missense_variant,p.Glu75Asp,ENST00000397138,;SNAP23,missense_variant,p.Glu39Asp,ENST00000563873,;SNAP23,missense_variant,p.Glu75Asp,ENST00000568451,;SNAP23,missense_variant,p.Glu75Asp,ENST00000568331,;SNAP23,3_prime_UTR_variant,,ENST00000563765,;SNAP23,3_prime_UTR_variant,,ENST00000566035,;SNAP23,non_coding_transcript_exon_variant,,ENST00000568514,;SNAP23,downstream_gene_variant,,ENST00000568745,;SNAP23,downstream_gene_variant,,ENST00000568227,;SNAP23,downstream_gene_variant,,ENST00000563451,;							MODERATE	225/636	E75D	SNP23_HUMAN			Transcript		benign(0.028)	.	ENSP00000249647		CCDS10087.1			1	
TBC1D32	0	LGGM	GRCh37	6	121412154	121412154	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	36	44	.	.	ENST00000398212.2:c.3499A>C	p.Asn1167His	p.N1167H	ENST00000398212	NM_152730.4	1167	Aat/Cat	0	1	1	UPI0000E67203	0	NA	ENST00000398212		ENSG00000146350	21485		80	2.095		HGNC	p.N1208H		TBC1D32		SNV							ENST00000275159	protein_coding	getma.org/?cm=var&var=hg19,6,121412154,T,G&fts=all		hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961,Superfamily_domains:SSF47923		N/H		G	medium	3549/3824		getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=N1167H	deleterious(0)	A2A304_HUMAN			YES	TBC1D32,missense_variant,p.Asn1208His,ENST00000275159,;TBC1D32,missense_variant,p.Asn1167His,ENST00000398212,NM_152730.4;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,downstream_gene_variant,,ENST00000368464,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,non_coding_transcript_exon_variant,,ENST00000519972,;							MODERATE	3499/3774	N1167H	BROMI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381270		CCDS43501.1			1	
KRT79	0	LGGM	GRCh37	12	53227591	53227591	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	41	44	.	.	ENST00000330553.5:c.454A>T	p.Lys152Ter	p.K152*	ENST00000330553	NM_175834.2	152	Aag/Tag	0	1	1	UPI0000198204	0	NA	ENST00000330553		ENSG00000185640	28930		85	0		HGNC	p.K152X		KRT79		SNV							ENST00000330553	protein_coding	getma.org/?cm=var&var=hg19,12,53227591,T,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF138,Superfamily_domains:SSF64593		K/*		A	NA	489/2068		NA					YES	KRT79,stop_gained,p.Lys152Ter,ENST00000330553,NM_175834.2;KRT78,downstream_gene_variant,,ENST00000359499,;KRT79,upstream_gene_variant,,ENST00000546453,;RP11-153F5.3,upstream_gene_variant,,ENST00000550463,;							HIGH	454/1608	K152*	K2C79_HUMAN			Transcript			.	ENSP00000328358		CCDS8839.1			1	
ERCC6L2	0	LGGM	GRCh37	9	98775100	98775100	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	114	45	.	.	ENST00000320486.5:c.1183A>T	p.Lys395Ile	p.K395I	ENST00000320486		395	aAa/aTa	0	1	1	UPI0001610CA1	0		ENST00000320486		ENSG00000182150	26922		159			HGNC	p.K404I		ERCC6L2		SNV			1				ENST00000407474	protein_coding					K/I		T		1183/2925			deleterious(0.05)					ERCC6L2,missense_variant,p.Lys395Ile,ENST00000320486,;ERCC6L2,missense_variant,p.Lys404Ile,ENST00000407474,;							MODERATE	1184/1569					Transcript		possibly_damaging(0.679)	.	ENSP00000320939					1	
AHNAK2	0	LGGM	GRCh37	14	105414069	105414069	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	44	46	.	.	ENST00000333244.5:c.7719T>C	p.Ser2573=	p.S2573=	ENST00000333244	NM_138420.2	2573	agT/agC	0	1	1	UPI00015BB2CA	0		ENST00000333244		ENSG00000185567	20125		90			HGNC	p.S2573S		AHNAK2		SNV							ENST00000333244	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		S		G		7839/18254							YES	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							LOW	7719/17388		AHNK2_HUMAN			Transcript			.	ENSP00000353114		CCDS45177.1			1	
SPATA16	0	LGGM	GRCh37	3	172737308	172737308	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	144	47	.	.	ENST00000351008.3:c.816T>C	p.Phe272=	p.F272=	ENST00000351008	NM_031955.5	272	ttT/ttC	0	1	1	UPI000013D9BF	0		ENST00000351008		ENSG00000144962	29935		191			HGNC	p.F272F		SPATA16		SNV			1				ENST00000351008	protein_coding			hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		F		G		1000/2106							YES	SPATA16,synonymous_variant,p.=,ENST00000351008,NM_031955.5;							LOW	816/1710		SPT16_HUMAN			Transcript			.	ENSP00000341765		CCDS3221.1			1	
ATP2C2	0	LGGM	GRCh37	16	84473111	84473111	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	66	47	.	.	ENST00000262429.4:c.1190C>T	p.Ser397Leu	p.S397L	ENST00000262429	NM_014861.2	397	tCa/tTa	0	1	1	UPI0000252110	0	getma.org/pdb.php?prot=AT2C2_HUMAN&from=373&to=686&var=S397L	ENST00000262429		ENSG00000064270	29103		113	0.58		HGNC	p.S397L		ATP2C2		SNV							ENST00000262429	protein_coding	getma.org/?cm=var&var=hg19,16,84473111,C,T&fts=all		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01522,TIGRFAM_domain:TIGR01494,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660		S/L		T	neutral	1279/3376		getma.org/?cm=msa&ty=f&p=AT2C2_HUMAN&rb=373&re=686&var=S397L	tolerated(0.67)				YES	ATP2C2,missense_variant,p.Ser397Leu,ENST00000416219,NM_001286527.1;ATP2C2,missense_variant,p.Ser397Leu,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,;							MODERATE	1190/2841	S397L	AT2C2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262429		CCDS42207.1			1	
FNDC1	0	LGGM	GRCh37	6	159636061	159636061	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	18	49	.	.	ENST00000297267.9:c.545T>A	p.Leu182Gln	p.L182Q	ENST00000297267	NM_032532.2	182	cTg/cAg	0	1	1	UPI0000579B80	0	getma.org/pdb.php?prot=FNDC1_HUMAN&from=158&to=250&var=L182Q	ENST00000297267		ENSG00000164694	21184		67	-0.345		HGNC	p.L182Q		FNDC1		SNV							ENST00000340366	protein_coding	getma.org/?cm=var&var=hg19,6,159636061,T,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		L/Q		A	neutral	745/6552		getma.org/?cm=msa&ty=f&p=FNDC1_HUMAN&rb=158&re=250&var=L182Q	tolerated(0.17)				YES	FNDC1,missense_variant,p.Leu182Gln,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Leu182Gln,ENST00000340366,;FNDC1,missense_variant,p.Leu141Gln,ENST00000329629,;FNDC1,upstream_gene_variant,,ENST00000480856,;							MODERATE	545/5685	L182Q	FNDC1_HUMAN			Transcript		unknown(0)	.	ENSP00000297267		CCDS47512.1			1	
RANBP17	0	LGGM	GRCh37	5	170343585	170343585	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	17	49	.	.	ENST00000523189.1:c.951T>A	p.Pro317=	p.P317=	ENST00000523189	NM_022897.3	317	ccT/ccA	0	1	1	UPI000000107C	0		ENST00000523189		ENSG00000204764	14428		66			HGNC	p.P317P		RANBP17		SNV							ENST00000389118	protein_coding			hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF8		P		A		1115/4588				Q546R4_HUMAN,E5RHX1_HUMAN			YES	RANBP17,synonymous_variant,p.=,ENST00000523189,NM_022897.3;RANBP17,synonymous_variant,p.=,ENST00000522734,;RANBP17,upstream_gene_variant,,ENST00000522380,;RANBP17,upstream_gene_variant,,ENST00000520879,;RANBP17,synonymous_variant,p.=,ENST00000522066,;RANBP17,synonymous_variant,p.=,ENST00000519949,;RANBP17,synonymous_variant,p.=,ENST00000520864,;RANBP17,synonymous_variant,p.=,ENST00000522533,;RANBP17,synonymous_variant,p.=,ENST00000389118,;RANBP17,synonymous_variant,p.=,ENST00000519256,;							LOW	951/3267		RBP17_HUMAN			Transcript			.	ENSP00000427975		CCDS34287.1			1	
RHD	0	LGGM	GRCh37	1	25628103	25628103	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	45	50	.	.	ENST00000328664.4:c.727T>A	p.Tyr243Asn	p.Y243N	ENST00000328664	NM_016124.3	243	Tat/Aat	0	1	1	UPI0000246EA2	0	getma.org/pdb.php?prot=RHD_HUMAN&from=15&to=406&var=Y243N	ENST00000328664		ENSG00000187010	10009		95	2.835		HGNC	p.Y243N		RHD		SNV			1				ENST00000454452	protein_coding	getma.org/?cm=var&var=hg19,1,25628103,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Pfam_domain:PF00909,Gene3D:1.10.3430.10,Superfamily_domains:0044218,Prints_domain:PR00342		Y/N		A	medium	882/2930		getma.org/?cm=msa&ty=f&p=RHD_HUMAN&rb=15&re=406&var=Y243N	deleterious(0)	T2DL33_HUMAN,Q9UEC7_HUMAN,Q9UDZ3_HUMAN,Q8NFY2_HUMAN,Q6A1H1_HUMAN,Q5NDM5_HUMAN,Q49IM6_HUMAN,P78522_HUMAN,I2HA01_HUMAN,I2HA00_HUMAN,I0CKG6_HUMAN,G0TQY3_HUMAN,E7BAS5_HUMAN,D8MJ86_HUMAN,D8MJ84_HUMAN,D2CRH1_HUMAN,B4F4S7_HUMAN,B4F4S0_HUMAN,B2ZGQ0_HUMAN,A9P3T3_HUMAN,A7Y8S3_HUMAN,A0PFK1_HUMAN			YES	RHD,missense_variant,p.Tyr243Asn,ENST00000328664,NM_016124.3,NM_001282867.1;RHD,missense_variant,p.Tyr243Asn,ENST00000423810,NM_001282872.1;RHD,missense_variant,p.Tyr243Asn,ENST00000342055,NM_001282871.1;RHD,missense_variant,p.Tyr243Asn,ENST00000568195,NM_001282870.1;RHD,missense_variant,p.Tyr243Asn,ENST00000357542,NM_001282869.1;RHD,missense_variant,p.Tyr243Asn,ENST00000417538,NM_001282868.1;RHD,missense_variant,p.Tyr243Asn,ENST00000454452,NM_001127691.1;C1orf63,intron_variant,,ENST00000568996,;C1orf63,intron_variant,,ENST00000561867,;RHD,non_coding_transcript_exon_variant,,ENST00000423253,;C1orf63,downstream_gene_variant,,ENST00000568399,;C1orf63,downstream_gene_variant,,ENST00000567741,;C1orf63,downstream_gene_variant,,ENST00000562018,;RHD,non_coding_transcript_exon_variant,,ENST00000564398,;C1orf63,intron_variant,,ENST00000473314,;							MODERATE	727/1254	Y243N	RHD_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000331871		CCDS262.1			1	
GPR160	0	LGGM	GRCh37	3	169801858	169801858	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	33	51	.	.	ENST00000355897.5:c.98T>A	p.Leu33His	p.L33H	ENST00000355897	NM_014373.2	33	cTt/cAt	0	1	1	UPI0000033731	0	NA	ENST00000355897		ENSG00000173890	23693		84	1.845		HGNC	p.L33H		GPR160		SNV							ENST00000482710	protein_coding	getma.org/?cm=var&var=hg19,3,169801858,T,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15573,Gene3D:1.20.1070.10		L/H		A	low	706/2039		getma.org/?cm=msa&ty=f&p=GP160_HUMAN&rb=1&re=291&var=L33H	deleterious(0)	C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN			YES	GPR160,missense_variant,p.Leu33His,ENST00000355897,NM_014373.2;GPR160,missense_variant,p.Leu33His,ENST00000492492,;GPR160,missense_variant,p.Leu33His,ENST00000473675,;GPR160,missense_variant,p.Leu33His,ENST00000482710,;GPR160,missense_variant,p.Leu33His,ENST00000485735,;PHC3,downstream_gene_variant,,ENST00000495893,NM_024947.3;PHC3,downstream_gene_variant,,ENST00000484068,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;							MODERATE	98/1017	L33H	GP160_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000348161		CCDS3211.1			1	
SLC5A11	0	LGGM	GRCh37	16	24919318	24919318	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	35	51	.	.	ENST00000347898.3:c.1300C>A	p.Leu434Ile	p.L434I	ENST00000347898	NM_052944.3	434	Ctc/Atc	0	1	1	UPI0000036161	0	getma.org/pdb.php?prot=SC5AB_HUMAN&from=58&to=487&var=L434I	ENST00000347898		ENSG00000158865	23091		86	1.25		HGNC	p.L370I		SLC5A11		SNV							ENST00000565769	protein_coding	getma.org/?cm=var&var=hg19,16,24919318,C,A&fts=all		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF127,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix		L/I		A	low	1922/2745		getma.org/?cm=msa&ty=f&p=SC5AB_HUMAN&rb=58&re=487&var=L434I	tolerated(0.05)	H3BN85_HUMAN			YES	SLC5A11,missense_variant,p.Leu434Ile,ENST00000347898,NM_052944.3;SLC5A11,missense_variant,p.Leu399Ile,ENST00000424767,NM_001258411.1;SLC5A11,missense_variant,p.Leu399Ile,ENST00000567758,;SLC5A11,missense_variant,p.Leu370Ile,ENST00000565769,NM_001258413.1;SLC5A11,missense_variant,p.Leu364Ile,ENST00000545376,NM_001258412.1;SLC5A11,missense_variant,p.Leu364Ile,ENST00000568579,;SLC5A11,missense_variant,p.Leu370Ile,ENST00000539472,;SLC5A11,missense_variant,p.Leu278Ile,ENST00000449109,NM_001258414.1;SLC5A11,missense_variant,p.Leu278Ile,ENST00000569071,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;							MODERATE	1300/2028	L434I	SC5AB_HUMAN			Transcript		benign(0.309)	.	ENSP00000289932		CCDS10625.1			1	
FAM194B	0	LGGM	GRCh37	13	46135552	46135552	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	145	52	.	.	ENST00000298738.2:c.1359T>A	p.His453Gln	p.H453Q	ENST00000298738	NM_182542.2	453	caT/caA	0	1	1	UPI000013E513	0	NA	ENST00000298738		ENSG00000165837	26523		197	0.69		HGNC	p.H453Q		FAM194B		SNV							ENST00000298738	protein_coding	getma.org/?cm=var&var=hg19,13,46135552,A,T&fts=all		hmmpanther:PTHR23093:SF12,hmmpanther:PTHR23093		H/Q		T	neutral	1524/2421		getma.org/?cm=msa&ty=f&p=F194B_HUMAN&rb=181&re=695&var=H453Q	tolerated(0.15)				YES	FAM194B,missense_variant,p.His453Gln,ENST00000298738,NM_182542.2;FAM194B,downstream_gene_variant,,ENST00000378977,;							MODERATE	1359/2091	H453Q	F194B_HUMAN			Transcript		benign(0.1)	.	ENSP00000298738		CCDS45045.1			1	
FETUB	0	LGGM	GRCh37	3	186370142	186370142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	164	52	.	.	ENST00000265029.3:c.871C>A	p.Pro291Thr	p.P291T	ENST00000265029	NM_014375.2	291	Cca/Aca	0	1	1	UPI00000361F3	0	NA	ENST00000265029		ENSG00000090512	3658	0.000259	216	1.175		HGNC	p.P291T	rs142401278	FETUB		SNV	G:0.0005			9.63E-05			ENST00000450521	protein_coding	getma.org/?cm=var&var=hg19,3,186370142,C,A&fts=all	G:0.0008	hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF10		P/T	G:0.0008	A	low	972/1627		getma.org/?cm=msa&ty=f&p=FETUB_HUMAN&rb=247&re=382&var=P291T	tolerated(0.16)	C9JC68_HUMAN,B7Z8T3_HUMAN	G:0	G:0	YES	FETUB,missense_variant,p.Pro291Thr,ENST00000265029,NM_014375.2;FETUB,missense_variant,p.Pro143Thr,ENST00000539949,;FETUB,missense_variant,p.Pro291Thr,ENST00000450521,;FETUB,missense_variant,p.Pro226Thr,ENST00000382134,;FETUB,missense_variant,p.Pro254Thr,ENST00000382136,;FETUB,downstream_gene_variant,,ENST00000431018,;RP11-134F2.2,intron_variant,,ENST00000428501,;RP11-134F2.2,intron_variant,,ENST00000455926,;FETUB,3_prime_UTR_variant,,ENST00000435961,;FETUB,3_prime_UTR_variant,,ENST00000420570,;		G:0.0004					MODERATE	871/1149	P291T	FETUB_HUMAN		G:0.001	Transcript		benign(0.1)	.	ENSP00000265029	3.29E-05	CCDS3279.1		G:0	1	
ADAM32	0	LGGM	GRCh37	8	39089556	39089556	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	81	52	.	.	ENST00000379907.4:c.1536T>A	p.Asn512Lys	p.N512K	ENST00000379907	NM_145004.5	512	aaT/aaA	0	1	1	UPI000013F62F	0	getma.org/pdb.php?prot=ADA32_HUMAN&from=479&to=596&var=N512K	ENST00000379907		ENSG00000197140	15479		133	1.525		HGNC	p.N512K		ADAM32		SNV							ENST00000379907	protein_coding	getma.org/?cm=var&var=hg19,8,39089556,T,A&fts=all		hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608		N/K		A	low	1663/2601		getma.org/?cm=msa&ty=f&p=ADA32_HUMAN&rb=479&re=596&var=N512K	deleterious(0.03)	E5RJY7_HUMAN			YES	ADAM32,missense_variant,p.Asn512Lys,ENST00000379907,NM_145004.5;ADAM32,missense_variant,p.Asn413Lys,ENST00000437682,;ADAM32,missense_variant,p.Asn406Lys,ENST00000519315,;ADAM32,intron_variant,,ENST00000520691,;							MODERATE	1536/2364	N512K	ADA32_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000369238		CCDS47846.1			1	
SEC24B	0	LGGM	GRCh37	4	110427488	110427488	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	10	56	.	.	ENST00000265175.5:c.1493A>G	p.Tyr498Cys	p.Y498C	ENST00000265175	NM_006323.2	498	tAt/tGt	0	1	1	UPI00004F6ED7	0	NA	ENST00000265175		ENSG00000138802	10704		66	2.14		HGNC	p.Y528C		SEC24B		SNV							ENST00000504968	protein_coding	getma.org/?cm=var&var=hg19,4,110427488,A,G&fts=all		hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF7,Superfamily_domains:SSF81995		Y/C		G	medium	1548/5083		getma.org/?cm=msa&ty=f&p=SC24B_HUMAN&rb=401&re=600&var=Y498C	deleterious(0.03)	B4E2E1_HUMAN			YES	SEC24B,missense_variant,p.Tyr498Cys,ENST00000265175,NM_006323.2;SEC24B,missense_variant,p.Tyr528Cys,ENST00000504968,;SEC24B,missense_variant,p.Tyr463Cys,ENST00000399100,NM_001042734.1;							MODERATE	1493/3807	Y498C	SC24B_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000265175		CCDS47124.1			1	
PCDHA13	0	LGGM	GRCh37	5	140262170	140262170	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	78	57	.	.	ENST00000289272.2:c.317T>A	p.Leu106Gln	p.L106Q	ENST00000289272	NM_018904.2	106	cTg/cAg	0	1	1	UPI00001273D6	0	getma.org/pdb.php?prot=PCDAD_HUMAN&from=29&to=112&var=L106Q	ENST00000289272		ENSG00000239389	8667		135	3.15		HGNC	p.L106Q		PCDHA13		SNV							ENST00000409494	protein_coding	getma.org/?cm=var&var=hg19,5,140262170,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313		L/Q		A	medium	317/5260		getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=29&re=112&var=L106Q	deleterious_low_confidence(0)				YES	PCDHA13,missense_variant,p.Leu106Gln,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Leu106Gln,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;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,;							MODERATE	317/2853	L106Q	PCDAD_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000289272		CCDS4240.1			1	
CHD7	0	LGGM	GRCh37	8	61743103	61743103	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	98	59	.	.	ENST00000423902.2:c.3745C>T	p.Arg1249Trp	p.R1249W	ENST00000423902	NM_017780.3	1249	Cgg/Tgg	0	1	1	UPI0000251DA6	0	getma.org/pdb.php?prot=CHD7_HUMAN&from=971&to=1258&var=R1249W	ENST00000423902		ENSG00000171316	20626		157	3.955		HGNC	p.R1249W		CHD7		SNV			1				ENST00000307121	protein_coding	getma.org/?cm=var&var=hg19,8,61743103,C,T&fts=all		Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Superfamily_domains:SSF52540		R/W		T	high	4224/10446		getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=971&re=1258&var=R1249W		H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,missense_variant,p.Arg1249Trp,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;							MODERATE	3745/8994	R1249W	CHD7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000392028		CCDS47865.1			1	
SDK1	0	LGGM	GRCh37	7	4051839	4051839	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	96	59	.	.	ENST00000404826.2:c.2392A>T	p.Asn798Tyr	p.N798Y	ENST00000404826	NM_152744.3	798	Aac/Tac	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=769&to=857&var=N798Y	ENST00000404826		ENSG00000146555	19307		155	3.18		HGNC	p.N798Y		SDK1		SNV							ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,4051839,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265		N/Y		T	medium	2531/10397		getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=769&re=857&var=N798Y	deleterious(0)				YES	SDK1,missense_variant,p.Asn798Tyr,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Asn798Tyr,ENST00000389531,;							MODERATE	2392/6642	N798Y	SDK1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000385899		CCDS34590.1			1	
KRTAP9-4	0	LGGM	GRCh37	17	39406151	39406151	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061350	H061350N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	81	61	.	.	ENST00000334109.2:c.179C>G	p.Thr60Ser	p.T60S	ENST00000334109	NM_033191.2	60	aCc/aGc	0	1	1	UPI000013F6DA	0	NA	ENST00000334109		ENSG00000241595	18902		142	0.01		HGNC	p.T60S		KRTAP9-4		SNV							ENST00000334109	protein_coding	getma.org/?cm=var&var=hg19,17,39406151,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF10,hmmpanther:PTHR23262		T/S		G	neutral	213/966		getma.org/?cm=msa&ty=f&p=KRA94_HUMAN&rb=28&re=69&var=T60S	tolerated(0.54)				YES	KRTAP9-4,missense_variant,p.Thr60Ser,ENST00000334109,NM_033191.2;							MODERATE	179/465	T60S	KRA94_HUMAN			Transcript		unknown(0)	.	ENSP00000334922		CCDS11386.1			1	
CMYA5	0	LGGM	GRCh37	5	79034236	79034236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	69	63	.	.	ENST00000446378.2:c.9648T>A	p.Ser3216Arg	p.S3216R	ENST00000446378	NM_153610.3	3216	agT/agA	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		132	2.175		HGNC	p.S3216R		CMYA5		SNV							ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79034236,T,A&fts=all		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7		S/R		A	medium	9679/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=3201&re=3400&var=S3216R					YES	CMYA5,missense_variant,p.Ser3216Arg,ENST00000446378,NM_153610.3;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;							MODERATE	9648/12210	S3216R	CMYA5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000394770		CCDS47238.1			1	
ANKS1B	0	LGGM	GRCh37	12	100173719	100173719	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	100	64	.	.	ENST00000547776.2:c.777T>A	p.Gly259=	p.G259=	ENST00000547776	NM_152788.4	259	ggT/ggA	0	1	1	UPI00003FE521	0		ENST00000547776		ENSG00000185046	24600		164			HGNC	p.G259G		ANKS1B		SNV							ENST00000547776	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR24174,hmmpanther:PTHR24174:SF3,Pfam_domain:PF13857,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		G		T		777/3885				R4GN73_HUMAN,R4GN70_HUMAN,R4GN07_HUMAN			YES	ANKS1B,synonymous_variant,p.=,ENST00000547776,NM_152788.4;ANKS1B,synonymous_variant,p.=,ENST00000329257,;ANKS1B,intron_variant,,ENST00000547010,;ANKS1B,intron_variant,,ENST00000549866,;ANKS1B,upstream_gene_variant,,ENST00000552472,;							LOW	777/3747		ANS1B_HUMAN			Transcript			.	ENSP00000449629		CCDS55872.1			1	
ALG10	0	LGGM	GRCh37	12	34179230	34179230	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061350	H061350N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	87	71	.	.	ENST00000266483.2:c.802G>A	p.Val268Ile	p.V268I	ENST00000266483	NM_032834.3	268	Gta/Ata	0	1	1	UPI000004E870	0	NA	ENST00000266483		ENSG00000139133	23162		158	1.4		HGNC	p.V268I		ALG10		SNV							ENST00000266483	protein_coding	getma.org/?cm=var&var=hg19,12,34179230,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12989,hmmpanther:PTHR12989:SF11,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810		V/I		A	low	1121/2393		getma.org/?cm=msa&ty=f&p=AG10A_HUMAN&rb=28&re=427&var=V268I	tolerated(0.08)				YES	ALG10,missense_variant,p.Val268Ile,ENST00000266483,NM_032834.3;ALG10,intron_variant,,ENST00000538927,;AC046130.1,downstream_gene_variant,,ENST00000401300,;RP11-847H18.2,intron_variant,,ENST00000501954,;ALG10,3_prime_UTR_variant,,ENST00000541875,;ALG10,downstream_gene_variant,,ENST00000541178,;							MODERATE	802/1422	V268I	AG10A_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000266483		CCDS41769.1			1	
CPXM2	0	LGGM	GRCh37	10	125530516	125530516	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	45	90	.	.	ENST00000241305.3:c.1018A>T	p.Arg340Ter	p.R340*	ENST00000241305	NM_198148.2	340	Aga/Tga	0	1	1	UPI00001AE6BE	0	NA	ENST00000241305		ENSG00000121898	26977		135	0		HGNC	p.R340X		CPXM2		SNV							ENST00000241305	protein_coding	getma.org/?cm=var&var=hg19,10,125530516,T,A&fts=all		Superfamily_domains:SSF53187,Pfam_domain:PF00246,Gene3D:3.40.630.10,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF45		R/*		A	NA	1173/3554		NA					YES	CPXM2,stop_gained,p.Arg340Ter,ENST00000241305,NM_198148.2;CPXM2,non_coding_transcript_exon_variant,,ENST00000368854,;							HIGH	1018/2271	R340*	CPXM2_HUMAN			Transcript			.	ENSP00000241305		CCDS7637.1			1	
AMY2B	0	LGGM	GRCh37	1	104117926	104117926	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061350	H061350N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	244	107	.	.	ENST00000361355.4:c.960T>C	p.His320=	p.H320=	ENST00000361355	NM_020978.4	320	caT/caC	0	1	1	UPI0000000CB1	0		ENST00000361355		ENSG00000240038	478		351			HGNC	p.H320H	rs748205188	AMY2B		SNV							ENST00000361355	protein_coding			Gene3D:3.20.20.80,Pfam_domain:PF00128,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,SMART_domains:SM00642,Superfamily_domains:SSF51445		H		C		1576/2181	1.50E-05			C9JWK7_HUMAN,C9J2Z5_HUMAN			YES	AMY2B,synonymous_variant,p.=,ENST00000361355,NM_020978.4;AMY2B,downstream_gene_variant,,ENST00000453959,;AMY2B,downstream_gene_variant,,ENST00000435302,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,upstream_gene_variant,,ENST00000481821,;AMY2B,upstream_gene_variant,,ENST00000462971,;AMY2B,synonymous_variant,p.=,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,;							LOW	960/1536		AMY2B_HUMAN			Transcript			.	ENSP00000354610	8.24E-06	CCDS782.1			1	
CCDC175	0	LGGM	GRCh37	14	60031874	60031874	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	45	139	.	.	ENST00000537690.2:c.611T>A	p.Leu204Ter	p.L204*	ENST00000537690	NM_001164399.1	204	tTg/tAg	0	1	1	UPI000059D254	0	NA	ENST00000537690		ENSG00000151838	19847		184	0		HGNC	p.L204X		CCDC175		SNV							ENST00000537690	protein_coding	getma.org/?cm=var&var=hg19,14,60031874,A,T&fts=all				L/*		T	NA	667/2616		NA					YES	CCDC175,stop_gained,p.Leu204Ter,ENST00000537690,NM_001164399.1;CCDC175,stop_gained,p.Leu204Ter,ENST00000281581,;CCDC175,upstream_gene_variant,,ENST00000556996,;CCDC175,upstream_gene_variant,,ENST00000556936,;							HIGH	611/2382	L204*				Transcript			.	ENSP00000453940		CCDS53898.1			1	
FLG	0	LGGM	GRCh37	1	152284920	152284920	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H061350	H061350N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061350N.bam, H061350T.bam	Illumina HiSeq	125	145	.	.	ENST00000368799.1:c.2442T>G	p.Thr814=	p.T814=	ENST00000368799	NM_002016.1	814	acT/acG	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748		270			HGNC	p.T814T		FLG		SNV			1				ENST00000368799	protein_coding			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21		T		C		2478/12747				Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							LOW	2442/12186		FILA_HUMAN			Transcript			.	ENSP00000357789		CCDS30860.1			1	
PRSS45	0	LGGM	GRCh37	3	46785605	46785605	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	11	2	.	.	ENST00000442359.2:c.139G>C	p.Gly47Arg	p.G47R	ENST00000442359	NM_199183.2	47	Ggc/Cgc	0	1	1	UPI0000F3B8DC	0	getma.org/pdb.php?prot=E5RIY5_HUMAN&from=1&to=106&var=G47R	ENST00000442359		ENSG00000188086	30717		13	3.29		HGNC	p.G47R		PRSS45		SNV							ENST00000442359	protein_coding	getma.org/?cm=var&var=hg19,3,46785605,C,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF47,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		G/R		G	medium	139/687		getma.org/?cm=msa&ty=f&p=E5RIY5_HUMAN&rb=1&re=106&var=G47R	deleterious(0.01)				YES	PRSS45,missense_variant,p.Gly47Arg,ENST00000442359,NM_199183.2;PRSS50,intron_variant,,ENST00000460241,;PRSS45,missense_variant,p.Gly47Arg,ENST00000423292,;							MODERATE	139/687	G47R	PRS45_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000401932		CCDS46815.1			1	
RECQL5	0	LGGM	GRCh37	17	73622034	73622034	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	4	2	.	.				ENST00000317905	NM_004259.6			0	1	1	UPI0000133477	0		ENST00000317905		ENSG00000108469	9950		6		900	HGNC	p.I408V		RECQL5		SNV							ENST00000293201	protein_coding							G		-/3704				Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN			YES	RECQL5,downstream_gene_variant,,ENST00000317905,NM_004259.6;RECQL5,downstream_gene_variant,,ENST00000423245,;RECQL5,downstream_gene_variant,,ENST00000580707,;RECQL5,downstream_gene_variant,,ENST00000581825,;RECQL5,downstream_gene_variant,,ENST00000582548,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578382,;MYO15B,non_coding_transcript_exon_variant,,ENST00000580262,;RECQL5,downstream_gene_variant,,ENST00000443199,;MYO15B,downstream_gene_variant,,ENST00000580414,;MYO15B,downstream_gene_variant,,ENST00000578220,;MYO15B,downstream_gene_variant,,ENST00000577948,;MYO15B,downstream_gene_variant,,ENST00000583140,;MYO15B,downstream_gene_variant,,ENST00000580096,;RECQL5,downstream_gene_variant,,ENST00000578865,;MYO15B,downstream_gene_variant,,ENST00000582597,;MYO15B,downstream_gene_variant,,ENST00000577613,;MYO15B,downstream_gene_variant,,ENST00000577986,;MYO15B,downstream_gene_variant,,ENST00000579048,;RECQL5,downstream_gene_variant,,ENST00000585205,;MYO15B,downstream_gene_variant,,ENST00000577296,;RECQL5,downstream_gene_variant,,ENST00000579265,;							MODIFIER	-/2976		RECQ5_HUMAN			Transcript			.	ENSP00000317636		CCDS42380.1			1	
DENND6B	0	LGGM	GRCh37	22	50753276	50753276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	5	2	.	.	ENST00000413817.3:c.833T>C	p.Leu278Pro	p.L278P	ENST00000413817	NM_001001794.3	278	cTg/cCg	0	1	1	UPI000006D2DB	0	NA	ENST00000413817		ENSG00000205593	32690		7	1.32		HGNC	p.L278P		DENND6B		SNV							ENST00000413817	protein_coding	getma.org/?cm=var&var=hg19,22,50753276,A,G&fts=all		Pfam_domain:PF08616,hmmpanther:PTHR13677,hmmpanther:PTHR13677:SF2,Low_complexity_(Seg):seg		L/P		G	low	905/4939		getma.org/?cm=msa&ty=f&p=F116B_HUMAN&rb=248&re=358&var=L278P	deleterious(0)				YES	DENND6B,missense_variant,p.Leu278Pro,ENST00000413817,NM_001001794.3;DENND6B,missense_variant,p.Leu290Pro,ENST00000433760,;XX-C283C717.1,non_coding_transcript_exon_variant,,ENST00000453835,;DENND6B,non_coding_transcript_exon_variant,,ENST00000495607,;DENND6B,non_coding_transcript_exon_variant,,ENST00000471942,;DENND6B,downstream_gene_variant,,ENST00000460087,;							MODERATE	833/1758	L278P	DEN6B_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000391524		CCDS46732.1			1	
GRM1	0	LGGM	GRCh37	6	146755512	146755512	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	16	2	.	.	ENST00000361719.2:c.3165C>G	p.Pro1055=	p.P1055=	ENST00000361719		1055	ccC/ccG	0	1		UPI000013DCFD	0		ENST00000282753		ENSG00000152822	4593		18			HGNC	p.P1055P		GRM1		SNV			1				ENST00000361719	protein_coding					P		G		3400/6622								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,;							LOW	3165/3585		GRM1_HUMAN			Transcript			.	ENSP00000282753		CCDS5209.1			1	
HYDIN	0	LGGM	GRCh37	16	70902609	70902609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	8	3	.	.	ENST00000393567.2:c.11174G>T	p.Arg3725Leu	p.R3725L	ENST00000393567	NM_001270974.1	3725	cGg/cTg	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		11	0.345		HGNC	p.R3725L		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70902609,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		R/L		A	neutral	11325/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=R3725L		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Arg3725Leu,ENST00000393567,NM_001270974.1;AC027281.1,downstream_gene_variant,,ENST00000411384,;SNORD112,downstream_gene_variant,,ENST00000515891,;HYDIN,upstream_gene_variant,,ENST00000378856,;							MODERATE	11174/15366	R3725L	HYDIN_HUMAN			Transcript		benign(0)	.	ENSP00000377197		CCDS59269.1			1	
GHRHR	0	LGGM	GRCh37	7	31013710	31013710	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	39	3	.	.	ENST00000326139.2:c.708C>A	p.Pro236=	p.P236=	ENST00000326139	NM_000823.3	236	ccC/ccA	0	1	1	UPI0000061EE1	0		ENST00000326139		ENSG00000106128	4266		42			HGNC	p.P172P		GHRHR		SNV			1				ENST00000409904	protein_coding			Pfam_domain:PF00002,Prints_domain:PR01352,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF209,Superfamily_domains:SSF81321		P		A		754/1602				P78471_HUMAN,P78470_HUMAN			YES	GHRHR,synonymous_variant,p.=,ENST00000409904,;GHRHR,synonymous_variant,p.=,ENST00000326139,NM_000823.3;GHRHR,intron_variant,,ENST00000409316,;GHRHR,non_coding_transcript_exon_variant,,ENST00000461424,;GHRHR,upstream_gene_variant,,ENST00000463164,;GHRHR,non_coding_transcript_exon_variant,,ENST00000461390,;GHRHR,non_coding_transcript_exon_variant,,ENST00000489974,;GHRHR,intron_variant,,ENST00000396227,;GHRHR,intron_variant,,ENST00000337750,;							LOW	708/1272		GHRHR_HUMAN			Transcript			.	ENSP00000320180		CCDS5432.1			1	
MYO18B	0	LGGM	GRCh37	22	26423636	26423636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	32	3	.	.	ENST00000335473.7:c.7696C>A	p.Gln2566Lys	p.Q2566K	ENST00000335473	NM_032608.5	2566	Cag/Aag	0	1		UPI0000207402	0	NA	ENST00000536101		ENSG00000133454	18150		35	0.695		HGNC	p.Q208K		MYO18B		SNV							ENST00000540454	protein_coding	getma.org/?cm=var&var=hg19,22,26423636,C,A&fts=all				Q/K		A	neutral	7955/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=2536&re=2567&var=Q2566K	tolerated(0.63)	Q8N903_HUMAN				MYO18B,missense_variant,p.Gln2566Lys,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Gln2567Lys,ENST00000407587,;MYO18B,missense_variant,p.Gln2566Lys,ENST00000536101,;MYO18B,missense_variant,p.Gln516Lys,ENST00000543971,;MYO18B,missense_variant,p.Gln208Lys,ENST00000540454,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	7696/7704	Q2566K				Transcript		benign(0.276)	.	ENSP00000441229		CCDS54507.1			1	
PCDHB3	0	LGGM	GRCh37	5	140482511	140482511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	45	3	.	.	ENST00000231130.2:c.2278G>T	p.Gly760Trp	p.G760W	ENST00000231130	NM_018937.2	760	Ggg/Tgg	0	1	1	UPI00001273DD	0	NA	ENST00000231130		ENSG00000113205	8688		48	3.61		HGNC	p.G760W		PCDHB3		SNV							ENST00000231130	protein_coding	getma.org/?cm=var&var=hg19,5,140482511,G,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF19		G/W		T	high	2278/3173		getma.org/?cm=msa&ty=f&p=PCDB3_HUMAN&rb=664&re=796&var=G760W	deleterious_low_confidence(0)				YES	PCDHB3,missense_variant,p.Gly760Trp,ENST00000231130,NM_018937.2;AC005754.7,upstream_gene_variant,,ENST00000607216,;							MODERATE	2278/2391	G760W	PCDB3_HUMAN			Transcript		possibly_damaging(0.565)	.	ENSP00000231130		CCDS4245.1			1	
ITGAD	0	LGGM	GRCh37	16	31434752	31434752	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	43	3	.	.	ENST00000389202.2:c.2939G>T	p.Trp980Leu	p.W980L	ENST00000389202	NM_005353.2	980	tGg/tTg	0	1	1	UPI000004B27A	0	getma.org/pdb.php?prot=ITAD_HUMAN&from=614&to=1027&var=W980L	ENST00000389202		ENSG00000156886	6146		46	2.69		HGNC	p.W980L		ITGAD		SNV							ENST00000389202	protein_coding	getma.org/?cm=var&var=hg19,16,31434752,G,T&fts=all		Superfamily_domains:SSF69179,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19		W/L		T	medium	2988/3912		getma.org/?cm=msa&ty=f&p=ITAD_HUMAN&rb=614&re=1027&var=W980L	deleterious(0.02)	Q59H14_HUMAN			YES	ITGAD,missense_variant,p.Trp980Leu,ENST00000389202,NM_005353.2;COX6A2,downstream_gene_variant,,ENST00000287490,NM_005205.3;COX6A2,downstream_gene_variant,,ENST00000565462,;ITGAD,upstream_gene_variant,,ENST00000567308,;							MODERATE	2939/3486	W980L	ITAD_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000373854		CCDS32438.1			1	
GFOD1	0	LGGM	GRCh37	6	13365275	13365275	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	21	3	.	.	ENST00000379287.3:c.873G>T	p.Pro291=	p.P291=	ENST00000379287	NM_018988.3	291	ccG/ccT	0	1	1	UPI0000072450	0		ENST00000379287		ENSG00000145990	21096		24			HGNC	p.P188P		GFOD1		SNV							ENST00000379284	protein_coding			Gene3D:3.30.360.10,hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF100		P		A		1538/8751							YES	GFOD1,synonymous_variant,p.=,ENST00000379287,NM_018988.3;GFOD1,synonymous_variant,p.=,ENST00000379284,NM_001242628.1,NM_001242630.1;							LOW	873/1173		GFOD1_HUMAN			Transcript			.	ENSP00000368589		CCDS4524.1			1	
PRKCB	0	LGGM	GRCh37	16	24046849	24046849	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	19	3	.	.	ENST00000303531.7:c.510G>T	p.Arg170Ser	p.R170S	ENST00000303531	NM_002738.6	170	agG/agT	0	1		UPI000012DF67	0	getma.org/pdb.php?prot=KPCB_HUMAN&from=155&to=172&var=R170S	ENST00000321728		ENSG00000166501	9395		22	-0.15		HGNC	p.R170S		PRKCB		SNV							ENST00000321728	protein_coding	getma.org/?cm=var&var=hg19,16,24046849,G,T&fts=all		Gene3D:2.60.40.150,PIRSF_domain:PIRSF000550,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,Superfamily_domains:SSF49562		R/S		T	neutral	685/2689		getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=125&re=202&var=R170S	tolerated(0.61)	I3L1Z0_HUMAN				PRKCB,missense_variant,p.Arg170Ser,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Arg170Ser,ENST00000321728,NM_212535.2;PRKCB,intron_variant,,ENST00000498739,;PRKCB,non_coding_transcript_exon_variant,,ENST00000486868,;							MODERATE	510/2016	R170S	KPCB_HUMAN			Transcript		benign(0.005)	.	ENSP00000318315		CCDS10618.1			1	
MS4A6A	0	LGGM	GRCh37	11	59945762	59945762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	41	3	.	.	ENST00000412309.2:c.394G>T	p.Ala132Ser	p.A132S	ENST00000412309	NM_022349.3	132	Gcc/Tcc	0	1		UPI0000047616	0	NA	ENST00000530839		ENSG00000110077	13375		44	1.115		HGNC	p.A104S		MS4A6A		SNV							ENST00000323961	protein_coding	getma.org/?cm=var&var=hg19,11,59945762,C,A&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320		A/S		A	low	803/1383		getma.org/?cm=msa&ty=f&p=M4A6A_HUMAN&rb=47&re=208&var=A104S	deleterious(0)	E9PNG6_HUMAN				MS4A6A,missense_variant,p.Ala104Ser,ENST00000528851,;MS4A6A,missense_variant,p.Ala59Ser,ENST00000426738,;MS4A6A,missense_variant,p.Ala104Ser,ENST00000323961,NM_152851.2;MS4A6A,missense_variant,p.Ala104Ser,ENST00000530839,NM_152852.2;MS4A6A,missense_variant,p.Ala132Ser,ENST00000412309,NM_022349.3,NM_001247999.1;MS4A6A,missense_variant,p.Ala132Ser,ENST00000529054,;MS4A6A,missense_variant,p.Ala104Ser,ENST00000420732,;MS4A6A,missense_variant,p.Ala39Ser,ENST00000533989,;MS4A6A,intron_variant,,ENST00000533023,;MS4A6A,downstream_gene_variant,,ENST00000532169,;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,,ENST00000531914,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000525549,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000530179,;MS4A6A,downstream_gene_variant,,ENST00000526677,;MS4A6A,downstream_gene_variant,,ENST00000533660,;MS4A6A,downstream_gene_variant,,ENST00000526697,;							MODERATE	310/747	A104S	M4A6A_HUMAN			Transcript		benign(0.118)	.	ENSP00000436979		CCDS7981.1			1	
FBXL22	0	LGGM	GRCh37	15	63893593	63893593	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	9	3	.	.	ENST00000360587.2:c.452C>A	p.Pro151His	p.P151H	ENST00000360587	NM_203373.2	151	cCt/cAt	0	1	1	UPI0000408A7A	0	NA	ENST00000360587		ENSG00000197361	27537		12	1.1		HGNC	p.P145H	COSM4056113	FBXL22		SNV						1	ENST00000360587	protein_coding	getma.org/?cm=var&var=hg19,15,63893593,C,A&fts=all		hmmpanther:PTHR23125:SF11,hmmpanther:PTHR23125		P/H		A	low	492/1526		getma.org/?cm=msa&ty=f&p=FXL22_HUMAN&rb=50&re=241&var=P145H	tolerated_low_confidence(0.13)				YES	FBXL22,missense_variant,p.Pro151His,ENST00000360587,NM_203373.2;FBXL22,missense_variant,p.Pro145His,ENST00000539570,;FBXL22,3_prime_UTR_variant,,ENST00000560325,;FBXL22,downstream_gene_variant,,ENST00000534939,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000561256,;USP3-AS1,upstream_gene_variant,,ENST00000560962,;USP3-AS1,upstream_gene_variant,,ENST00000558831,;USP3-AS1,upstream_gene_variant,,ENST00000559737,;USP3-AS1,upstream_gene_variant,,ENST00000561191,;USP3-AS1,upstream_gene_variant,,ENST00000560622,;					1		MODERATE	452/744	P145H	FXL22_HUMAN			Transcript		benign(0)	.	ENSP00000353794		CCDS10187.2			1	
NOS3	0	LGGM	GRCh37	7	150696323	150696323	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	40	3	.	.	ENST00000297494.3:c.1002G>T	p.Pro334=	p.P334=	ENST00000297494	NM_000603.4	334	ccG/ccT	0	1	1	UPI000013E417	0		ENST00000297494		ENSG00000164867	7876		43			HGNC	p.P334P	rs753573625	NOS3		SNV			1				ENST00000484524	protein_coding			hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.1230.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512		P		T		1359/4388	1.54E-05			Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN			YES	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,upstream_gene_variant,,ENST00000460603,;							LOW	1002/3612		NOS3_HUMAN			Transcript			.	ENSP00000297494	8.26E-06	CCDS5912.1			1	
BRAT1	0	LGGM	GRCh37	7	2578021	2578021	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	36	3	.	.	ENST00000340611.4:c.2148G>T	p.Ala716=	p.A716=	ENST00000340611	NM_152743.3	716	gcG/gcT	0	1	1	UPI00001AEB20	0		ENST00000340611		ENSG00000106009	21701		39			HGNC	p.A716A		BRAT1		SNV			1				ENST00000340611	protein_coding			hmmpanther:PTHR21331,hmmpanther:PTHR21331:SF1		A		A		2405/2915				F8WDN5_HUMAN			YES	BRAT1,synonymous_variant,p.=,ENST00000340611,NM_152743.3;BRAT1,downstream_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,;							LOW	2148/2466		BRAT1_HUMAN			Transcript			.	ENSP00000339637		CCDS5334.1			1	
TMEM2	0	LGGM	GRCh37	9	74364976	74364976	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	37	3	.	.	ENST00000377044.4:c.314C>A	p.Ser105Ter	p.S105*	ENST00000377044	NM_013390.2	105	tCa/tAa	0	1	1	UPI0000071E8D	0	NA	ENST00000377044		ENSG00000135048	11869		40	0		HGNC	p.S105X		TMEM2		SNV							ENST00000377066	protein_coding	getma.org/?cm=var&var=hg19,9,74364976,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17		S/*		T	NA	854/6523		NA		F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN			YES	TMEM2,stop_gained,p.Ser105Ter,ENST00000377044,NM_013390.2,NM_001135820.1;TMEM2,stop_gained,p.Ser105Ter,ENST00000377066,;TMEM2,downstream_gene_variant,,ENST00000545719,;TMEM2,stop_gained,p.Ser105Ter,ENST00000542935,;TMEM2,non_coding_transcript_exon_variant,,ENST00000543165,;							HIGH	314/4152	S105*	TMEM2_HUMAN			Transcript			.	ENSP00000366243		CCDS6638.1			1	
NDUFS2	0	LGGM	GRCh37	1	161182152	161182152	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	40	3	.	.	ENST00000367993.3:c.998G>T	p.Arg333Leu	p.R333L	ENST00000367993	NM_004550.4	333	cGg/cTg	0	1	1	UPI00001308D2	0	getma.org/pdb.php?prot=NDUS2_HUMAN&from=193&to=463&var=R333L	ENST00000367993		ENSG00000158864	7708		43	3.94		HGNC	p.R333L	rs150981760	NDUFS2		SNV	A:0		1				ENST00000392179	protein_coding	getma.org/?cm=var&var=hg19,1,161182152,G,T&fts=all		Gene3D:1.10.645.10,HAMAP:MF_01358,Pfam_domain:PF00346,hmmpanther:PTHR11993,hmmpanther:PTHR11993:SF10,Superfamily_domains:SSF56762,TIGRFAM_domain:TIGR01962		R/L	A:0.0001	T	high	1446/2042	1.50E-05	getma.org/?cm=msa&ty=f&p=NDUS2_HUMAN&rb=193&re=463&var=R333L	deleterious(0)	Q9HC12_HUMAN,Q9HC11_HUMAN,B7Z9L2_HUMAN			YES	NDUFS2,missense_variant,p.Arg333Leu,ENST00000392179,NM_001166159.1;NDUFS2,missense_variant,p.Arg333Leu,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,;							MODERATE	998/1392	R333L	NDUS2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000356972	8.24E-06	CCDS1224.1			1	
FOXRED1	0	LGGM	GRCh37	11	126143301	126143301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	20	3	.	.	ENST00000263578.5:c.488C>A	p.Ala163Asp	p.A163D	ENST00000263578	NM_017547.3	163	gCt/gAt	0	1	1	UPI0000037C04	0	getma.org/pdb.php?prot=FXRD1_HUMAN&from=65&to=455&var=A163D	ENST00000263578		ENSG00000110074	26927		23	3.56		HGNC	p.A162D		FOXRED1		SNV			1				ENST00000527004	protein_coding	getma.org/?cm=var&var=hg19,11,126143301,C,A&fts=all		Superfamily_domains:SSF51905,Pfam_domain:PF01266,Gene3D:3.30.9.10,hmmpanther:PTHR13847:SF161,hmmpanther:PTHR13847		A/D		A	high	562/1970		getma.org/?cm=msa&ty=f&p=FXRD1_HUMAN&rb=65&re=455&var=A163D	deleterious(0)	B4DXM1_HUMAN,B4DQI0_HUMAN			YES	FOXRED1,missense_variant,p.Ala163Asp,ENST00000263578,NM_017547.3;FOXRED1,missense_variant,p.Ala149Asp,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,missense_variant,p.Ala162Asp,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,;							MODERATE	488/1461	A163D	FXRD1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000263578		CCDS8471.1			1	
PRKG1	0	LGGM	GRCh37	10	54032227	54032227	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	41	3	.	.	ENST00000373980.4:c.1389C>A	p.Thr463=	p.T463=	ENST00000373980	NM_006258.3	463	acC/acA	0	1		UPI000047033D	0		ENST00000373985		ENSG00000185532	9414		44			HGNC	p.T436T		PRKG1		SNV			1				ENST00000373985	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24353:SF61,hmmpanther:PTHR24353,Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000559,SMART_domains:SM00220,Superfamily_domains:SSF56112		T		A		1365/6487				Q5SQU3_HUMAN				PRKG1,synonymous_variant,p.=,ENST00000373980,NM_006258.3;PRKG1,synonymous_variant,p.=,ENST00000373985,NM_001098512.2;PRKG1,synonymous_variant,p.=,ENST00000401604,;PRKG1,synonymous_variant,p.=,ENST00000373975,;PRKG1-AS1,intron_variant,,ENST00000426785,;PRKG1-AS1,intron_variant,,ENST00000452247,;							LOW	1308/1980					Transcript			.	ENSP00000363097					1	
GEMIN5	0	LGGM	GRCh37	5	154291456	154291456	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	19	3	.	.	ENST00000285873.7:c.1998G>T	p.Val666=	p.V666=	ENST00000285873	NM_001252156.1	666	gtG/gtT	0	1	1	UPI000020D072	0		ENST00000285873		ENSG00000082516	20043		22			HGNC	p.V666V		GEMIN5		SNV							ENST00000285873	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89,SMART_domains:SM00320,Superfamily_domains:SSF50998		V		A		2074/5397				Q58EZ8_HUMAN			YES	GEMIN5,splice_region_variant,p.=,ENST00000285873,NM_001252156.1,NM_015465.4;							LOW	1998/4527		GEMI5_HUMAN			Transcript			.	ENSP00000285873		CCDS4330.1			1	
LRCH4	0	LGGM	GRCh37	7	100176330	100176330	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	13	3	.	.	ENST00000310300.6:c.678G>T	p.Leu226=	p.L226=	ENST00000310300	NM_002319.3	226	ctG/ctT	0	1	1	UPI00000714CE	0		ENST00000310300		ENSG00000077454	6691		16			HGNC	p.L226L		LRCH4		SNV							ENST00000310300	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF00560,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF451,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		A		731/2552				C9JYK0_HUMAN			YES	LRCH4,synonymous_variant,p.=,ENST00000310300,NM_002319.3;LRCH4,5_prime_UTR_variant,,ENST00000497245,;LRCH4,upstream_gene_variant,,ENST00000485554,;LRCH4,non_coding_transcript_exon_variant,,ENST00000467201,;LRCH4,non_coding_transcript_exon_variant,,ENST00000487697,;LRCH4,upstream_gene_variant,,ENST00000485071,;LRCH4,upstream_gene_variant,,ENST00000476881,;LRCH4,upstream_gene_variant,,ENST00000498539,;LRCH4,downstream_gene_variant,,ENST00000470184,;LRCH4,downstream_gene_variant,,ENST00000485583,;LRCH4,upstream_gene_variant,,ENST00000490359,;							LOW	678/2052		LRCH4_HUMAN			Transcript			.	ENSP00000309689		CCDS34706.1			1	
SLCO4C1	0	LGGM	GRCh37	5	101631622	101631622	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	15	3	.	.	ENST00000310954.6:c.345C>A	p.Ala115=	p.A115=	ENST00000310954	NM_180991.4	115	gcC/gcA	0	1	1	UPI00001C10B6	0		ENST00000310954		ENSG00000173930	23612		18			HGNC	p.A115A		SLCO4C1		SNV							ENST00000310954	protein_coding			Superfamily_domains:SSF103473,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388:SF81,hmmpanther:PTHR11388,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix		A		T		632/5334				Q63HP3_HUMAN			YES	SLCO4C1,synonymous_variant,p.=,ENST00000310954,NM_180991.4;							LOW	345/2175		SO4C1_HUMAN			Transcript			.	ENSP00000309741		CCDS34205.1			1	
HEXIM1	0	LGGM	GRCh37	17	43226680	43226680	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	41	3	.	.	ENST00000332499.2:c.123C>A	p.Pro41=	p.P41=	ENST00000332499	NM_006460.2	41	ccC/ccA	0	1	1	UPI000006E405	0		ENST00000332499		ENSG00000186834	24953		44			HGNC	p.P41P		HEXIM1		SNV							ENST00000332499	protein_coding			hmmpanther:PTHR13469,hmmpanther:PTHR13469:SF7		P		A		1997/4785							YES	HEXIM1,synonymous_variant,p.=,ENST00000332499,NM_006460.2;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;							LOW	123/1080		HEXI1_HUMAN			Transcript			.	ENSP00000328773		CCDS11495.1			1	
ZNF140	0	LGGM	GRCh37	12	133682645	133682645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	40	3	.	.	ENST00000355557.2:c.782C>A	p.Thr261Asn	p.T261N	ENST00000355557	NM_003440.2	261	aCt/aAt	0	1	1	UPI0000074687	0	getma.org/pdb.php?prot=ZN140_HUMAN&from=257&to=286&var=T261N	ENST00000355557		ENSG00000196387	12925		43	1.23		HGNC	p.T158N		ZNF140		SNV							ENST00000544426	protein_coding	getma.org/?cm=var&var=hg19,12,133682645,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF36,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/N		A	low	2065/3550		getma.org/?cm=msa&ty=f&p=ZN140_HUMAN&rb=257&re=286&var=T261N	deleterious(0.03)	Q05CP6_HUMAN,I3L0D9_HUMAN,F5H4I1_HUMAN,B4DKI0_HUMAN			YES	ZNF140,missense_variant,p.Thr261Asn,ENST00000355557,NM_003440.2;ZNF140,missense_variant,p.Thr158Asn,ENST00000544426,;ZNF140,3_prime_UTR_variant,,ENST00000440550,;ZNF140,downstream_gene_variant,,ENST00000429434,;ZNF140,downstream_gene_variant,,ENST00000356456,;ZNF140,downstream_gene_variant,,ENST00000319849,;ZNF140,downstream_gene_variant,,ENST00000412146,;ZNF140,3_prime_UTR_variant,,ENST00000536790,;ZNF140,downstream_gene_variant,,ENST00000392041,;							MODERATE	782/1374	T261N	ZN140_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000347755		CCDS9282.1			1	
PTPRT	0	LGGM	GRCh37	20	40730802	40730802	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	36	3	.	.	ENST00000373198.4:c.3733G>T	p.Gly1245Ter	p.G1245*	ENST00000373198	NM_133170.3	1245	Gga/Tga	0	1	1	UPI0000246C03	0	NA	ENST00000373187		ENSG00000196090	9682		39	0		HGNC	p.G1248X		PTPRT		SNV							ENST00000373198	protein_coding	getma.org/?cm=var&var=hg19,20,40730802,C,A&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799		G/*		A	NA	3676/12453		NA					YES	PTPRT,stop_gained,p.Gly1245Ter,ENST00000373198,NM_133170.3;PTPRT,stop_gained,p.Gly1216Ter,ENST00000373201,;PTPRT,stop_gained,p.Gly1229Ter,ENST00000373193,NM_007050.5;PTPRT,stop_gained,p.Gly1225Ter,ENST00000373190,;PTPRT,stop_gained,p.Gly1236Ter,ENST00000373184,;PTPRT,stop_gained,p.Gly1235Ter,ENST00000356100,;PTPRT,stop_gained,p.Gly1226Ter,ENST00000373187,;							HIGH	3676/4326	G1226*	PTPRT_HUMAN			Transcript			.	ENSP00000362283		CCDS42874.1			1	
NOS1	0	LGGM	GRCh37	12	117693748	117693748	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	24	3	.	.	ENST00000338101.4:c.2626C>A	p.Gln876Lys	p.Q876K	ENST00000338101		876	Cag/Aag	0	1		UPI0000130397	0	getma.org/pdb.php?prot=E9PH30_HUMAN&from=762&to=969&var=Q876K	ENST00000317775		ENSG00000089250	7872		27	0.75		HGNC	p.Q876K		NOS1		SNV			1				ENST00000338101	protein_coding	getma.org/?cm=var&var=hg19,12,117693748,G,T&fts=all						T	neutral	-/12158		getma.org/?cm=msa&ty=f&p=E9PH30_HUMAN&rb=762&re=969&var=Q876K		B3VK56_HUMAN,A0PJJ7_HUMAN				NOS1,missense_variant,p.Gln876Lys,ENST00000338101,;NOS1,intron_variant,,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,intron_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;							MODIFIER	-/4305	Q876K	NOS1_HUMAN			Transcript			.	ENSP00000320758		CCDS41842.1			1	
DCST2	0	LGGM	GRCh37	1	154998786	154998786	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	34	3	.	.	ENST00000368424.3:c.1603C>A	p.Arg535=	p.R535=	ENST00000368424	NM_144622.2	535	Cgg/Agg	0	1	1	UPI0000D959B3	0		ENST00000368424		ENSG00000163354	26562		37			HGNC	p.R535R		DCST2		SNV							ENST00000295536	protein_coding			Pfam_domain:PF07782,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF1		R		T		1662/2392				Q8N1J0_HUMAN			YES	DCST2,synonymous_variant,p.=,ENST00000368424,NM_144622.2;DCST2,synonymous_variant,p.=,ENST00000295536,;DCST2,synonymous_variant,p.=,ENST00000485982,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST2,non_coding_transcript_exon_variant,,ENST00000498036,;DCST2,intron_variant,,ENST00000467991,;							LOW	1603/2322		DCST2_HUMAN			Transcript			.	ENSP00000357409		CCDS1082.2			1	
WDR25	0	LGGM	GRCh37	14	100847364	100847364	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	15	3	.	.	ENST00000335290.6:c.103C>A	p.Gln35Lys	p.Q35K	ENST00000335290	NM_024515.4	35	Cag/Aag	0	1	1	UPI0000D4CFD0	0	NA	ENST00000335290		ENSG00000176473	21064		18	1.845		HGNC	p.Q35K		WDR25		SNV							ENST00000554998	protein_coding	getma.org/?cm=var&var=hg19,14,100847364,C,A&fts=all		hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF14		Q/K		A	low	329/2123		getma.org/?cm=msa&ty=f&p=WDR25_HUMAN&rb=1&re=200&var=Q35K	tolerated(0.11)	G3V2K8_HUMAN			YES	WDR25,missense_variant,p.Gln35Lys,ENST00000335290,NM_024515.4;WDR25,missense_variant,p.Gln35Lys,ENST00000554175,;WDR25,missense_variant,p.Gln35Lys,ENST00000402312,NM_001161476.1;WDR25,missense_variant,p.Gln35Lys,ENST00000554998,;WARS,upstream_gene_variant,,ENST00000355338,NM_173701.1;WARS,upstream_gene_variant,,ENST00000556645,;WARS,upstream_gene_variant,,ENST00000358655,NM_213645.1;WDR25,upstream_gene_variant,,ENST00000542471,;WARS,upstream_gene_variant,,ENST00000557722,;WARS,upstream_gene_variant,,ENST00000556504,;WARS,upstream_gene_variant,,ENST00000553524,;WARS,upstream_gene_variant,,ENST00000553581,;WARS,upstream_gene_variant,,ENST00000553413,;WARS,upstream_gene_variant,,ENST00000556209,;WARS,upstream_gene_variant,,ENST00000554772,;WARS,upstream_gene_variant,,ENST00000553769,;WARS,upstream_gene_variant,,ENST00000554605,;WARS,upstream_gene_variant,,ENST00000556435,;WDR25,intron_variant,,ENST00000555775,;WDR25,intron_variant,,ENST00000554492,;WARS,upstream_gene_variant,,ENST00000557239,;WDR25,missense_variant,p.Gln35Lys,ENST00000557710,;WARS,upstream_gene_variant,,ENST00000554331,;WARS,upstream_gene_variant,,ENST00000555063,;WARS,upstream_gene_variant,,ENST00000556783,;WARS,upstream_gene_variant,,ENST00000556579,;							MODERATE	103/1635	Q35K	WDR25_HUMAN			Transcript		benign(0.036)	.	ENSP00000334148		CCDS32157.1			1	
HDAC1	0	LGGM	GRCh37	1	32797346	32797346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	24	3	.	.	ENST00000373548.3:c.1158G>T	p.Glu386Asp	p.E386D	ENST00000373548	NM_004964.2	386	gaG/gaT	0	1	1	UPI0000035528	0	NA	ENST00000373548		ENSG00000116478	4852		27	1.31		HGNC	p.E386D		HDAC1		SNV							ENST00000373548	protein_coding	getma.org/?cm=var&var=hg19,1,32797346,G,T&fts=all		hmmpanther:PTHR10625:SF113,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037913		E/D		T	low	1242/2124		getma.org/?cm=msa&ty=f&p=HDAC1_HUMAN&rb=321&re=482&var=E386D	tolerated(0.39)	Q6IT96_HUMAN,F5GXM1_HUMAN			YES	HDAC1,missense_variant,p.Glu386Asp,ENST00000373548,NM_004964.2;HDAC1,missense_variant,p.Glu193Asp,ENST00000373541,;MARCKSL1,downstream_gene_variant,,ENST00000329421,NM_023009.6;HDAC1,downstream_gene_variant,,ENST00000428704,;HDAC1,non_coding_transcript_exon_variant,,ENST00000490081,;HDAC1,downstream_gene_variant,,ENST00000463172,;HDAC1,downstream_gene_variant,,ENST00000482310,;HDAC1,downstream_gene_variant,,ENST00000481281,;HDAC1,downstream_gene_variant,,ENST00000472928,;HDAC1,non_coding_transcript_exon_variant,,ENST00000476391,;HDAC1,non_coding_transcript_exon_variant,,ENST00000471488,;HDAC1,downstream_gene_variant,,ENST00000484305,;							MODERATE	1158/1449	E386D	HDAC1_HUMAN			Transcript		benign(0.003)	.	ENSP00000362649		CCDS360.1			1	
MAP2K2	0	LGGM	GRCh37	19	4117480	4117480	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	33	3	.	.	ENST00000262948.5:c.240G>T	p.Ala80=	p.A80=	ENST00000262948	NM_030662.3	80	gcG/gcT	0	1	1	UPI000012F489	0		ENST00000262948		ENSG00000126934	6842		36			HGNC	p.A80A		MAP2K2		SNV			1				ENST00000262948	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		A		A		494/1734				G5E9C7_HUMAN,B3KS97_HUMAN			YES	MAP2K2,synonymous_variant,p.=,ENST00000262948,NM_030662.3;MAP2K2,5_prime_UTR_variant,,ENST00000394867,;MAP2K2,non_coding_transcript_exon_variant,,ENST00000599345,;							LOW	240/1203		MP2K2_HUMAN			Transcript			.	ENSP00000262948		CCDS12120.1			1	
OR4D2	0	LGGM	GRCh37	17	56247398	56247398	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	35	3	.	.	ENST00000545221.1:c.382C>A	p.Arg128=	p.R128=	ENST00000545221	NM_001004707.3	128	Cgg/Agg	0	1	1	UPI0000000DB3	0		ENST00000545221		ENSG00000255713	8294		38			HGNC	p.R128R		OR4D2		SNV							ENST00000545221	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF315,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R		A		382/924							YES	OR4D2,synonymous_variant,p.=,ENST00000545221,NM_001004707.3;							LOW	382/924		OR4D2_HUMAN			Transcript			.	ENSP00000441354		CCDS32688.1			1	
DHX40	0	LGGM	GRCh37	17	57652809	57652809	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	46	3	.	.	ENST00000251241.4:c.950C>A	p.Pro317Gln	p.P317Q	ENST00000251241	NM_024612.4	317	cCg/cAg	0	1	1	UPI000006E150	0	getma.org/pdb.php?prot=DHX40_HUMAN&from=307&to=401&var=P317Q	ENST00000251241		ENSG00000108406	18018		49	3.61		HGNC	p.P317Q		DHX40		SNV							ENST00000251241	protein_coding	getma.org/?cm=var&var=hg19,17,57652809,C,A&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF98,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540		P/Q		A	high	1097/3660		getma.org/?cm=msa&ty=f&p=DHX40_HUMAN&rb=307&re=401&var=P317Q	deleterious(0.05)				YES	DHX40,missense_variant,p.Pro218Gln,ENST00000451169,;DHX40,missense_variant,p.Pro317Gln,ENST00000251241,NM_024612.4;DHX40,missense_variant,p.Pro240Gln,ENST00000425628,NM_001166301.1;DHX40,downstream_gene_variant,,ENST00000580030,;DHX40,upstream_gene_variant,,ENST00000538926,;DHX40,downstream_gene_variant,,ENST00000584385,;DHX40,downstream_gene_variant,,ENST00000580218,;DHX40,downstream_gene_variant,,ENST00000577596,;							MODERATE	950/2340	P317Q	DHX40_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251241		CCDS11617.1			1	
LAMC3	0	LGGM	GRCh37	9	133917068	133917068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	13	3	.	.	ENST00000361069.4:c.1328C>A	p.Pro443His	p.P443H	ENST00000361069	NM_006059.3	443	cCc/cAc	0	1	1	UPI000013D6D3	0	getma.org/pdb.php?prot=LAMC3_HUMAN&from=430&to=477&var=P443H	ENST00000361069		ENSG00000050555	6494		16	2.66		HGNC	p.P443H		LAMC3		SNV			1				ENST00000361069	protein_coding	getma.org/?cm=var&var=hg19,9,133917068,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00180,Superfamily_domains:SSF57196		P/H		A	medium	1461/6133		getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=430&re=477&var=P443H	deleterious(0)	Q5JTC4_HUMAN			YES	LAMC3,missense_variant,p.Pro443His,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;							MODERATE	1328/4728	P443H	LAMC3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000354360		CCDS6938.1			1	
PCYT2	0	LGGM	GRCh37	17	79864417	79864417	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	39	3	.	.	ENST00000538721.2:c.736G>T	p.Gly246Trp	p.G246W	ENST00000538721	NM_001184917.1	246	Ggg/Tgg	0	1		UPI0000131469	0	getma.org/pdb.php?prot=PCY2_HUMAN&from=217&to=334&var=G228W	ENST00000538936		ENSG00000185813	8756		42	4.325		HGNC	p.G150W		PCYT2		SNV							ENST00000331285	protein_coding	getma.org/?cm=var&var=hg19,17,79864417,C,A&fts=all		hmmpanther:PTHR10739,hmmpanther:PTHR10739:SF23,Pfam_domain:PF01467,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00125,Superfamily_domains:SSF52374		G/W		A	high	791/5147		getma.org/?cm=msa&ty=f&p=PCY2_HUMAN&rb=217&re=334&var=G228W	deleterious(0)	I3L1F9_HUMAN,I3L1C4_HUMAN,B7ZAS0_HUMAN				PCYT2,missense_variant,p.Gly228Trp,ENST00000538936,NM_001256435.1,NM_002861.3;PCYT2,missense_variant,p.Gly150Trp,ENST00000331285,;PCYT2,missense_variant,p.Gly196Trp,ENST00000570391,NM_001282204.1;PCYT2,missense_variant,p.Gly246Trp,ENST00000538721,NM_001184917.1,NM_001256434.1;PCYT2,missense_variant,p.Gly228Trp,ENST00000571105,;PCYT2,missense_variant,p.Gly150Trp,ENST00000570388,;PCYT2,missense_variant,p.Gly174Trp,ENST00000576343,NM_001256433.1;PCYT2,missense_variant,p.Gly213Trp,ENST00000573636,;PCYT2,missense_variant,p.Gly72Trp,ENST00000572995,;NPB,downstream_gene_variant,,ENST00000573081,;PCYT2,downstream_gene_variant,,ENST00000573927,;NPB,downstream_gene_variant,,ENST00000333383,NM_148896.3;PCYT2,downstream_gene_variant,,ENST00000572473,;PCYT2,downstream_gene_variant,,ENST00000572157,;PCYT2,3_prime_UTR_variant,,ENST00000573401,;PCYT2,non_coding_transcript_exon_variant,,ENST00000571581,;PCYT2,non_coding_transcript_exon_variant,,ENST00000574155,;PCYT2,upstream_gene_variant,,ENST00000572924,;PCYT2,upstream_gene_variant,,ENST00000574343,;PCYT2,upstream_gene_variant,,ENST00000571944,;							MODERATE	682/1170	G228W	PCY2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000439245		CCDS11791.1			1	
MYO5B	0	LGGM	GRCh37	18	47511089	47511089	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	32	3	.	.	ENST00000285039.7:c.945C>A	p.Leu315=	p.L315=	ENST00000285039	NM_001080467.2	315	ctC/ctA	0	1	1	UPI00001D7B21	0		ENST00000285039		ENSG00000167306	7603		35			HGNC	p.L315L		MYO5B		SNV			1				ENST00000285039	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540		L		T		1245/9505				Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN			YES	MYO5B,splice_region_variant,p.=,ENST00000285039,NM_001080467.2;							LOW	945/5547		MYO5B_HUMAN			Transcript			.	ENSP00000285039		CCDS42436.1			1	
GPRIN2	0	LGGM	GRCh37	10	46999480	46999480	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	10	3	.	.	ENST00000374314.4:c.600C>G	p.Asp200Glu	p.D200E	ENST00000374314		200	gaC/gaG	0	1	1	UPI000013ECB4	0	NA	ENST00000374314		ENSG00000204175	23730		13	0.41		HGNC	p.D200E		GPRIN2		SNV							ENST00000374314	protein_coding	getma.org/?cm=var&var=hg19,10,46999480,C,G&fts=all		hmmpanther:PTHR15718		D/E		G	neutral	1555/7718		getma.org/?cm=msa&ty=f&p=GRIN2_HUMAN&rb=111&re=456&var=D200E	tolerated(0.59)				YES	GPRIN2,missense_variant,p.Asp200Glu,ENST00000374314,;GPRIN2,missense_variant,p.Asp200Glu,ENST00000374317,NM_014696.3;							MODERATE	600/1377	D200E	GRIN2_HUMAN			Transcript		benign(0.003)	.	ENSP00000363433		CCDS31192.1			1	
KRTAP12-2	0	LGGM	GRCh37	21	46086633	46086633	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	25	3	.	.	ENST00000360770.3:c.171C>A	p.Pro57=	p.P57=	ENST00000360770	NM_181684.2	57	ccC/ccA	0	1	1	UPI00001A95BA	0		ENST00000360770		ENSG00000221864	20530		28			HGNC	p.P57P		KRTAP12-2		SNV							ENST00000360770	protein_coding			hmmpanther:PTHR23262:SF35,hmmpanther:PTHR23262,Pfam_domain:PF05287		P		T		212/739							YES	KRTAP12-2,synonymous_variant,p.=,ENST00000360770,NM_181684.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;							LOW	171/441		KR122_HUMAN			Transcript			.	ENSP00000354001		CCDS42965.1			1	
ZNF521	0	LGGM	GRCh37	18	22805702	22805702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	42	3	.	.	ENST00000361524.3:c.2180G>T	p.Cys727Phe	p.C727F	ENST00000361524	NM_015461.2	727	tGc/tTc	0	1	1	UPI000006F982	0	NA	ENST00000361524		ENSG00000198795	24605		45	3.82		HGNC	p.C507F		ZNF521		SNV							ENST00000584787	protein_coding	getma.org/?cm=var&var=hg19,18,22805702,C,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13894,Gene3D:3.30.40.10,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157		C/F		A	high	2329/4871		getma.org/?cm=msa&ty=f&p=ZN521_HUMAN&rb=702&re=765&var=C727F	deleterious(0)	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN			YES	ZNF521,missense_variant,p.Cys727Phe,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Cys507Phe,ENST00000584787,;ZNF521,missense_variant,p.Cys727Phe,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.Cys727Phe,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;							MODERATE	2180/3936	C727F	ZN521_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354794		CCDS32806.1			1	
CASP8	0	LGGM	GRCh37	2	202149917	202149917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	29	3	.	.	ENST00000358485.4:c.1358C>A	p.Pro453Gln	p.P453Q	ENST00000358485	NM_001080125.1	453	cCg/cAg	0	1		UPI000003AEFE	0	getma.org/pdb.php?prot=CASP8_HUMAN&from=234&to=476&var=P394Q	ENST00000432109		ENSG00000064012	1509		32	3.755		HGNC	p.P173Q		CASP8		SNV			1				ENST00000444430	protein_coding	getma.org/?cm=var&var=hg19,2,202149917,C,A&fts=all		PROSITE_profiles:PS50207,hmmpanther:PTHR10454:SF141,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129		P/Q		A	high	1370/1629		getma.org/?cm=msa&ty=f&p=CASP8_HUMAN&rb=234&re=476&var=P394Q	deleterious(0)	E7EVN1_HUMAN,E7ETB7_HUMAN,E7EQ01_HUMAN				CASP8,missense_variant,p.Pro453Gln,ENST00000358485,NM_001080125.1;CASP8,missense_variant,p.Pro379Gln,ENST00000323492,NM_033356.3;CASP8,missense_variant,p.Pro310Gln,ENST00000264274,;CASP8,missense_variant,p.Pro411Gln,ENST00000264275,NM_001228.4;CASP8,missense_variant,p.Pro394Gln,ENST00000432109,NM_033355.3;CASP8,missense_variant,p.Pro379Gln,ENST00000392263,NM_001080124.1;CASP8,missense_variant,p.Pro173Gln,ENST00000444430,;CASP8,3_prime_UTR_variant,,ENST00000392259,;CASP8,3_prime_UTR_variant,,ENST00000392266,;ALS2CR12,downstream_gene_variant,,ENST00000405148,NM_139163.2;ALS2CR12,downstream_gene_variant,,ENST00000392257,NM_001127391.1;ALS2CR12,downstream_gene_variant,,ENST00000286190,;ALS2CR12,downstream_gene_variant,,ENST00000439709,;CASP8,downstream_gene_variant,,ENST00000392258,NM_033358.3;ALS2CR12,downstream_gene_variant,,ENST00000415745,;CASP8,downstream_gene_variant,,ENST00000424461,;CASP8,non_coding_transcript_exon_variant,,ENST00000339403,;ALS2CR12,downstream_gene_variant,,ENST00000494171,;ALS2CR12,downstream_gene_variant,,ENST00000494223,;							MODERATE	1181/1440	P394Q	CASP8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412523		CCDS2342.1			1	
GAD1	0	LGGM	GRCh37	2	171715387	171715387	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	26	3	.	.	ENST00000358196.3:c.1595G>T	p.Arg532Leu	p.R532L	ENST00000358196	NM_000817.2	532	cGg/cTg	0	1	1	UPI000002D729	0	getma.org/pdb.php?prot=DCE1_HUMAN&from=519&to=594&var=R532L	ENST00000358196		ENSG00000128683	4092		29	1.54		HGNC	p.R532L		GAD1		SNV			1				ENST00000358196	protein_coding	getma.org/?cm=var&var=hg19,2,171715387,G,T&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF57,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		R/L		T	low	2145/3604		getma.org/?cm=msa&ty=f&p=DCE1_HUMAN&rb=519&re=594&var=R532L	tolerated(0.41)	Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN			YES	GAD1,missense_variant,p.Arg532Leu,ENST00000358196,NM_000817.2;GAD1,3_prime_UTR_variant,,ENST00000493875,;GAD1,3_prime_UTR_variant,,ENST00000414527,;GAD1,non_coding_transcript_exon_variant,,ENST00000478562,;GAD1,non_coding_transcript_exon_variant,,ENST00000488724,;							MODERATE	1595/1785	R532L	DCE1_HUMAN			Transcript		benign(0.028)	.	ENSP00000350928		CCDS2239.1			1	
TULP4	0	LGGM	GRCh37	6	158900814	158900814	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	26	3	.	.	ENST00000367097.3:c.1058G>T	p.Arg353Leu	p.R353L	ENST00000367097	NM_020245.4	353	cGg/cTg	0	1	1	UPI000013CD76	0	NA	ENST00000367097		ENSG00000130338	15530		29	1.87		HGNC	p.R353L		TULP4		SNV							ENST00000367097	protein_coding	getma.org/?cm=var&var=hg19,6,158900814,G,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2,Superfamily_domains:SSF50978		R/L		T	low	2415/11123		getma.org/?cm=msa&ty=f&p=TULP4_HUMAN&rb=310&re=373&var=R353L	deleterious(0.02)				YES	TULP4,missense_variant,p.Arg353Leu,ENST00000367097,NM_020245.4;TULP4,missense_variant,p.Arg353Leu,ENST00000367094,NM_001007466.2;							MODERATE	1058/4632	R353L	TULP4_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000356064		CCDS34561.1			1	
PACS1	0	LGGM	GRCh37	11	65978726	65978726	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	25	3	.	.	ENST00000320580.4:c.656C>A	p.Ala219Glu	p.A219E	ENST00000320580	NM_018026.3	219	gCa/gAa	0	1	1	UPI0000190973	0	NA	ENST00000320580		ENSG00000175115	30032		28	2.625		HGNC	p.A219E		PACS1		SNV			1				ENST00000320580	protein_coding	getma.org/?cm=var&var=hg19,11,65978726,C,A&fts=all		hmmpanther:PTHR13280:SF16,hmmpanther:PTHR13280		A/E		A	medium	689/4392		getma.org/?cm=msa&ty=f&p=PACS1_HUMAN&rb=80&re=279&var=A219E	deleterious(0)	Q9NTH2_HUMAN,E9PSG7_HUMAN,E9PSE1_HUMAN,E9PNZ9_HUMAN,B4DF77_HUMAN			YES	PACS1,missense_variant,p.Ala219Glu,ENST00000320580,NM_018026.3;PACS1,missense_variant,p.Ala121Glu,ENST00000527380,;PACS1,downstream_gene_variant,,ENST00000533756,;PACS1,non_coding_transcript_exon_variant,,ENST00000527224,;PACS1,upstream_gene_variant,,ENST00000531298,;							MODERATE	656/2892	A219E	PACS1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000316454		CCDS8129.1			1	
DNAH1	0	LGGM	GRCh37	3	52422484	52422484	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	11	3	.	.	ENST00000420323.2:c.9222G>T	p.Leu3074=	p.L3074=	ENST00000420323	NM_015512.4	3074	ctG/ctT	0	1	1	UPI0001AE79D6	0		ENST00000420323		ENSG00000114841	2940		14			HGNC	p.L3074L		DNAH1		SNV			1				ENST00000420323	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137		L		T		9483/13104							YES	DNAH1,synonymous_variant,p.=,ENST00000420323,NM_015512.4;DNAH1,upstream_gene_variant,,ENST00000480649,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000490713,;							LOW	9222/12798		DYH1_HUMAN			Transcript			.	ENSP00000401514		CCDS46842.1			1	
IGSF3	0	LGGM	GRCh37	1	117149164	117149164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	16	3	.	.	ENST00000369483.1:c.1232G>T	p.Trp411Leu	p.W411L	ENST00000369483	NM_001542.3	411	tGg/tTg	0	1		UPI00003FEC88	0	NA	ENST00000369486		ENSG00000143061	5950		19	0		HGNC	p.W411L		IGSF3		SNV			1				ENST00000369483	protein_coding	getma.org/?cm=var&var=hg19,1,117149164,C,A&fts=all						A	neutral	-/7254		getma.org/?cm=msa&ty=f&p=A6NJZ6_HUMAN&rb=395&re=428&var=W411L						IGSF3,missense_variant,p.Trp411Leu,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Trp411Leu,ENST00000318837,;IGSF3,intron_variant,,ENST00000369486,NM_001007237.2;							MODIFIER	-/3585	W411L	IGSF3_HUMAN			Transcript			.	ENSP00000358498		CCDS30813.1			1	
RRAS	0	LGGM	GRCh37	19	50139000	50139000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	18	3	.	.	ENST00000246792.3:c.563G>T	p.Arg188Leu	p.R188L	ENST00000246792	NM_006270.3	188	cGg/cTg	0	1	1	UPI0000001255	0	getma.org/pdb.php?prot=RRAS_HUMAN&from=31&to=192&var=R188L	ENST00000246792		ENSG00000126458	10447		21	2.49		HGNC	p.R188L		RRAS		SNV			1				ENST00000246792	protein_coding	getma.org/?cm=var&var=hg19,19,50139000,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF232,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540		R/L		A	medium	666/1044		getma.org/?cm=msa&ty=f&p=RRAS_HUMAN&rb=31&re=192&var=R188L	deleterious(0)				YES	RRAS,missense_variant,p.Arg188Leu,ENST00000246792,NM_006270.3;RRAS,downstream_gene_variant,,ENST00000601532,;							MODERATE	563/657	R188L	RRAS_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000246792		CCDS12774.1			1	
PLEC	0	LGGM	GRCh37	8	144995315	144995315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	18	3	.	.	ENST00000322810.4:c.9085G>T	p.Gly3029Trp	p.G3029W	ENST00000322810	NM_201380.2	3029	Ggg/Tgg	0	1	1	UPI0000233FCD	0	NA	ENST00000322810		ENSG00000178209	9069		21	0.895		HGNC	p.G2915W		PLEC		SNV			1				ENST00000527096	protein_coding	getma.org/?cm=var&var=hg19,8,144995315,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247		G/W		A	low	9255/15249		getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=2985&re=3153&var=G3029W		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Gly3029Trp,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Gly2892Trp,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Gly2919Trp,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Gly2870Trp,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Gly2892Trp,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Gly2896Trp,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Gly2878Trp,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Gly2860Trp,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Gly2915Trp,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;							MODERATE	9085/14055	G3029W	PLEC_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000323856		CCDS43772.1			1	
CCNF	0	LGGM	GRCh37	16	2506927	2506927	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	34	3	.	.	ENST00000397066.4:c.2267C>A	p.Pro756Gln	p.P756Q	ENST00000397066	NM_001761.2	756	cCg/cAg	0	1	1	UPI0000127595	0	NA	ENST00000397066		ENSG00000162063	1591		37	1.245		HGNC	p.P756Q		CCNF		SNV							ENST00000397066	protein_coding	getma.org/?cm=var&var=hg19,16,2506927,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	low	2355/4283		getma.org/?cm=msa&ty=f&p=CCNF_HUMAN&rb=551&re=785&var=P756Q	tolerated_low_confidence(0.24)				YES	CCNF,missense_variant,p.Pro756Gln,ENST00000397066,NM_001761.2;C16orf59,upstream_gene_variant,,ENST00000569496,;C16orf59,upstream_gene_variant,,ENST00000563531,;C16orf59,upstream_gene_variant,,ENST00000483320,;C16orf59,upstream_gene_variant,,ENST00000361837,NM_025108.2;C16orf59,upstream_gene_variant,,ENST00000567489,;C16orf59,upstream_gene_variant,,ENST00000568753,;RP11-715J22.4,non_coding_transcript_exon_variant,,ENST00000566085,;RP11-715J22.4,non_coding_transcript_exon_variant,,ENST00000565827,;RP11-715J22.3,upstream_gene_variant,,ENST00000561653,;CCNF,3_prime_UTR_variant,,ENST00000293968,;C16orf59,upstream_gene_variant,,ENST00000569994,;C16orf59,upstream_gene_variant,,ENST00000565716,;C16orf59,upstream_gene_variant,,ENST00000569664,;C16orf59,upstream_gene_variant,,ENST00000562253,;C16orf59,upstream_gene_variant,,ENST00000569665,;C16orf59,upstream_gene_variant,,ENST00000565537,;C16orf59,upstream_gene_variant,,ENST00000566580,;							MODERATE	2267/2361	P756Q	CCNF_HUMAN			Transcript		benign(0.307)	.	ENSP00000380256		CCDS10467.1			1	
ANKRD17	0	LGGM	GRCh37	4	74124037	74124037	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	27	3	.	.	ENST00000358602.4:c.349G>T	p.Glu117Ter	p.E117*	ENST00000358602	NM_032217.3	117	Gag/Tag	0	1	1	UPI00002263B0	0	NA	ENST00000358602		ENSG00000132466	23575		30	0		HGNC	p.E117X		ANKRD17		SNV							ENST00000561029	protein_coding	getma.org/?cm=var&var=hg19,4,74124037,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206		E/*		A	NA	466/10784		NA					YES	ANKRD17,stop_gained,p.Glu117Ter,ENST00000358602,NM_032217.3;ANKRD17,stop_gained,p.Glu2Ter,ENST00000558247,;ANKRD17,stop_gained,p.Glu117Ter,ENST00000330838,NM_198889.1;ANKRD17,stop_gained,p.Glu117Ter,ENST00000561029,;RP11-692D12.1,upstream_gene_variant,,ENST00000502790,;							HIGH	349/7812	E117*	ANR17_HUMAN			Transcript			.	ENSP00000351416		CCDS34004.1			1	
CHSY1	0	LGGM	GRCh37	15	101775500	101775500	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	28	3	.	.	ENST00000254190.3:c.603G>T	p.Leu201=	p.L201=	ENST00000254190	NM_014918.4	201	ctG/ctT	0	1	1	UPI000000DB6C	0		ENST00000254190		ENSG00000131873	17198		31			HGNC	p.L201L		CHSY1		SNV			1				ENST00000254190	protein_coding			hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF16,Superfamily_domains:SSF53448		L		A		1079/4550							YES	CHSY1,synonymous_variant,p.=,ENST00000254190,NM_014918.4;CHSY1,downstream_gene_variant,,ENST00000559384,;							LOW	603/2409		CHSS1_HUMAN			Transcript			.	ENSP00000254190		CCDS10390.1			1	
MYCBPAP	0	LGGM	GRCh37	17	48596376	48596376	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	24	3	.	.	ENST00000323776.5:c.823G>T	p.Gly275Trp	p.G275W	ENST00000323776	NM_032133.4	275	Ggg/Tgg	0	1	1	UPI0000E5A00B	0	NA	ENST00000323776		ENSG00000136449	19677		27	2.34		HGNC	p.G238W		MYCBPAP		SNV							ENST00000436259	protein_coding	getma.org/?cm=var&var=hg19,17,48596376,G,T&fts=all		hmmpanther:PTHR12276:SF44,hmmpanther:PTHR12276,Pfam_domain:PF14646		G/W		T	medium	985/3186		getma.org/?cm=msa&ty=f&p=MYBPP_HUMAN&rb=3&re=944&var=G238W	deleterious(0)				YES	MYCBPAP,missense_variant,p.Gly275Trp,ENST00000323776,NM_032133.4;MYCBPAP,missense_variant,p.Gly238Trp,ENST00000436259,;MYCBPAP,missense_variant,p.Gly290Trp,ENST00000452039,;MYCBPAP,downstream_gene_variant,,ENST00000576179,;MYCBPAP,upstream_gene_variant,,ENST00000488432,;MYCBPAP,upstream_gene_variant,,ENST00000468821,;MYCBPAP,missense_variant,p.Gly250Trp,ENST00000437498,;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,;MYCBPAP,downstream_gene_variant,,ENST00000458692,;MYCBPAP,upstream_gene_variant,,ENST00000459754,;							MODERATE	823/2955	G238W	MYBPP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000323184		CCDS32680.2			1	
FOXD4	0	LGGM	GRCh37	9	117945	117945	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	42	3	.	.	ENST00000382500.2:c.175C>A	p.Arg59=	p.R59=	ENST00000382500	NM_207305.4	59	Cgg/Agg	0	1	1	UPI00001AFF18	0		ENST00000382500		ENSG00000170122	3805		45			HGNC	p.R59R		FOXD4		SNV							ENST00000382500	protein_coding			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149		R		T		473/2181							YES	FOXD4,synonymous_variant,p.=,ENST00000382500,NM_207305.4;CBWD1,downstream_gene_variant,,ENST00000356521,NM_018491.3;CBWD1,downstream_gene_variant,,ENST00000377400,;CBWD1,downstream_gene_variant,,ENST00000314367,NM_001145355.1;CBWD1,downstream_gene_variant,,ENST00000382447,NM_001145356.1;RP11-143M1.4,upstream_gene_variant,,ENST00000416242,;CBWD1,downstream_gene_variant,,ENST00000475411,;CBWD1,downstream_gene_variant,,ENST00000495302,;CBWD1,downstream_gene_variant,,ENST00000475990,;CBWD1,downstream_gene_variant,,ENST00000465014,;CBWD1,downstream_gene_variant,,ENST00000487575,;CBWD1,downstream_gene_variant,,ENST00000464198,;CBWD1,downstream_gene_variant,,ENST00000462513,;							LOW	175/1320		FOXD4_HUMAN			Transcript			.	ENSP00000371940		CCDS34975.1			1	
ZNF770	0	LGGM	GRCh37	15	35274111	35274111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	32	3	.	.	ENST00000356321.4:c.1525G>T	p.Gly509Trp	p.G509W	ENST00000356321	NM_014106.3	509	Ggg/Tgg	0	1	1	UPI00001D776B	0	getma.org/pdb.php?prot=ZN770_HUMAN&from=503&to=525&var=G509W	ENST00000356321		ENSG00000198146	26061		35	3.37		HGNC	p.G509W		ZNF770		SNV							ENST00000356321	protein_coding	getma.org/?cm=var&var=hg19,15,35274111,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF208,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		A	medium	1870/5439		getma.org/?cm=msa&ty=f&p=ZN770_HUMAN&rb=483&re=545&var=G509W	deleterious(0)	H0YM59_HUMAN			YES	ZNF770,missense_variant,p.Gly509Trp,ENST00000356321,NM_014106.3;AC114546.1,downstream_gene_variant,,ENST00000391457,;ZNF770,downstream_gene_variant,,ENST00000559564,;							MODERATE	1525/2076	G509W	ZN770_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348673		CCDS10042.1			1	
OTOP2	0	LGGM	GRCh37	17	72926916	72926916	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	24	3	.	.	ENST00000331427.4:c.1186C>A	p.Gln396Lys	p.Q396K	ENST00000331427	NM_178160.2	396	Cag/Aag	0	1	1	UPI000018F613	0	NA	ENST00000331427		ENSG00000183034	19657		27	0.345		HGNC	p.Q396K		OTOP2		SNV							ENST00000331427	protein_coding	getma.org/?cm=var&var=hg19,17,72926916,C,A&fts=all		hmmpanther:PTHR21522:SF35,hmmpanther:PTHR21522,Pfam_domain:PF03189		Q/K		A	neutral	1278/2147		getma.org/?cm=msa&ty=f&p=OTOP2_HUMAN&rb=224&re=449&var=Q396K	tolerated(0.46)				YES	OTOP2,missense_variant,p.Gln396Lys,ENST00000331427,NM_178160.2;OTOP2,missense_variant,p.Gln396Lys,ENST00000580223,;OTOP3,upstream_gene_variant,,ENST00000328801,NM_001272005.1,NM_178233.2;OTOP3,upstream_gene_variant,,ENST00000580749,;OTOP2,downstream_gene_variant,,ENST00000584711,;							MODERATE	1186/1689	Q396K	OTOP2_HUMAN			Transcript		benign(0)	.	ENSP00000332528		CCDS11708.1			1	
RASA2	0	LGGM	GRCh37	3	141304869	141304869	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	33	3	.	.	ENST00000286364.3:c.1755C>A	p.Phe585Leu	p.F585L	ENST00000286364		585	ttC/ttA	0	1	1	UPI00001351F5	0	NA	ENST00000286364		ENSG00000155903	9872		36	2.395		HGNC	p.F585L		RASA2		SNV			1				ENST00000286364	protein_coding	getma.org/?cm=var&var=hg19,3,141304869,C,A&fts=all		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Gene3D:1.10.506.10,SMART_domains:SM00323,Superfamily_domains:SSF48350		F/L		A	medium	1790/5614		getma.org/?cm=msa&ty=f&p=RASA2_HUMAN&rb=551&re=604&var=F585L	deleterious(0.01)				YES	RASA2,missense_variant,p.Phe585Leu,ENST00000286364,;RASA2,missense_variant,p.Phe585Leu,ENST00000452898,NM_006506.2;RASA2,splice_region_variant,,ENST00000509118,;RASA2,splice_region_variant,,ENST00000509032,;RASA2,upstream_gene_variant,,ENST00000506365,;							MODERATE	1755/2550	F585L	RASA2_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000286364		CCDS3117.1			1	
UBXN11	0	LGGM	GRCh37	1	26611983	26611983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	2	3	.	.	ENST00000374222.1:c.824G>T	p.Arg275Leu	p.R275L	ENST00000374222		275	cGa/cTa	0	1		UPI00004700E1	0	getma.org/pdb.php?prot=UBX11_HUMAN&from=235&to=306&var=R275L	ENST00000374221		ENSG00000158062	30600		5	2.365		HGNC	p.R242L		UBXN11		SNV							ENST00000374217	protein_coding	getma.org/?cm=var&var=hg19,1,26611983,C,A&fts=all		PROSITE_profiles:PS51399,hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF4,Pfam_domain:PF08059,Superfamily_domains:SSF102848		R/L		A	medium	1038/1792		getma.org/?cm=msa&ty=f&p=UBX11_HUMAN&rb=235&re=306&var=R275L	tolerated(0.12)					UBXN11,missense_variant,p.Arg155Leu,ENST00000314675,NM_001077262.1;UBXN11,missense_variant,p.Arg275Leu,ENST00000374222,;UBXN11,missense_variant,p.Arg242Leu,ENST00000374217,NM_145345.2;UBXN11,missense_variant,p.Arg275Leu,ENST00000374221,NM_183008.2;UBXN11,missense_variant,p.Arg242Leu,ENST00000357089,;UBXN11,missense_variant,p.Arg32Leu,ENST00000374223,;UBXN11,missense_variant,p.Arg200Leu,ENST00000436301,;UBXN11,missense_variant,p.Arg237Leu,ENST00000374215,;UBXN11,missense_variant,p.Arg117Leu,ENST00000535108,;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.3;UBXN11,downstream_gene_variant,,ENST00000452980,;SH3BGRL3,downstream_gene_variant,,ENST00000319041,;UBXN11,downstream_gene_variant,,ENST00000442942,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;							MODERATE	824/1563	R275L	UBX11_HUMAN			Transcript		benign(0.44)	.	ENSP00000363338		CCDS41288.1			1	
INPPL1	0	LGGM	GRCh37	11	71948723	71948723	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	6	3	.	.	ENST00000298229.2:c.3435C>A	p.Leu1145=	p.L1145=	ENST00000298229	NM_001567.3	1145	ctC/ctA	0	1	1	UPI000013E4AF	0		ENST00000298229		ENSG00000165458	6080		9			HGNC	p.L903L		INPPL1		SNV			1				ENST00000538751	protein_coding					L		A		3639/4733				H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN			YES	INPPL1,synonymous_variant,p.=,ENST00000541756,;INPPL1,synonymous_variant,p.=,ENST00000298229,NM_001567.3;INPPL1,synonymous_variant,p.=,ENST00000538751,;INPPL1,synonymous_variant,p.=,ENST00000541752,;INPPL1,synonymous_variant,p.=,ENST00000320683,;PHOX2A,downstream_gene_variant,,ENST00000298231,NM_005169.3;PHOX2A,downstream_gene_variant,,ENST00000546310,;PHOX2A,downstream_gene_variant,,ENST00000544057,;INPPL1,intron_variant,,ENST00000535985,;INPPL1,downstream_gene_variant,,ENST00000541303,;INPPL1,downstream_gene_variant,,ENST00000545355,;INPPL1,downstream_gene_variant,,ENST00000542295,;							LOW	3435/3777		SHIP2_HUMAN			Transcript			.	ENSP00000298229		CCDS8213.1			1	
SLIT1	0	LGGM	GRCh37	10	98770816	98770816	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	15	3	.	.	ENST00000266058.4:c.3275G>A	p.Cys1092Tyr	p.C1092Y	ENST00000266058	NM_003061.2	1092	tGc/tAc	0	1	1	UPI00001F9491	0	NA	ENST00000266058		ENSG00000187122	11085		18	4.865		HGNC	p.C1092Y		SLIT1		SNV							ENST00000266058	protein_coding	getma.org/?cm=var&var=hg19,10,98770816,C,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF00008,SMART_domains:SM00181,SMART_domains:SM00274,SMART_domains:SM00179,Superfamily_domains:SSF57184		C/Y		T	high	3521/7925		getma.org/?cm=msa&ty=f&p=SLIT1_HUMAN&rb=1080&re=1117&var=C1092Y	deleterious(0)				YES	SLIT1,missense_variant,p.Cys1092Tyr,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Cys1092Tyr,ENST00000371070,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;							MODERATE	3275/4605	C1092Y	SLIT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000266058		CCDS7453.1			1	
SPTBN2	0	LGGM	GRCh37	11	66467049	66467049	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	32	3	.	.	ENST00000533211.1:c.3604G>T	p.Gly1202Trp	p.G1202W	ENST00000533211		1202	Ggg/Tgg	0	1		UPI000013EF83	0	getma.org/pdb.php?prot=SPTN2_HUMAN&from=1172&to=1276&var=G1202W	ENST00000309996		ENSG00000173898	11276		35	1.32		HGNC	p.G1202W		SPTBN2		SNV			1				ENST00000309996	protein_coding	getma.org/?cm=var&var=hg19,11,66467049,C,A&fts=all		hmmpanther:PTHR11915:SF205,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150		G/W		A	low	3676/7866		getma.org/?cm=msa&ty=f&p=SPTN2_HUMAN&rb=1172&re=1276&var=G1202W	deleterious(0.01)	E9PJZ2_HUMAN,C1KC08_HUMAN				SPTBN2,missense_variant,p.Gly1202Trp,ENST00000533211,;SPTBN2,missense_variant,p.Gly1202Trp,ENST00000529997,;SPTBN2,missense_variant,p.Gly1202Trp,ENST00000309996,NM_006946.2;SPTBN2,upstream_gene_variant,,ENST00000530665,;							MODERATE	3604/7173	G1202W	SPTN2_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000311489		CCDS8150.1			1	
FERD3L	0	LGGM	GRCh37	7	19184797	19184797	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	20	4	.	.	ENST00000275461.3:c.189A>G	p.Glu63=	p.E63=	ENST00000275461	NM_152898.2	63	gaA/gaG	0	1	1	UPI0000073BBA	0		ENST00000275461		ENSG00000146618	16660		24			HGNC	p.E63E		FERD3L		SNV							ENST00000275461	protein_coding			hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF46,Low_complexity_(Seg):seg		E		C		248/640							YES	FERD3L,synonymous_variant,p.=,ENST00000275461,NM_152898.2;AC003986.5,non_coding_transcript_exon_variant,,ENST00000452700,;							LOW	189/501		FER3L_HUMAN			Transcript			.	ENSP00000275461		CCDS5368.1			1	
CES5A	0	LGGM	GRCh37	16	55880681	55880681	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	87	4	.	.	ENST00000521992.1:c.1582G>T	p.Gly528Trp	p.G528W	ENST00000521992	NM_001190158.1	528	Ggg/Tgg	0	1		UPI000035CC44	0	getma.org/pdb.php?prot=EST5A_HUMAN&from=9&to=539&var=G499W	ENST00000290567		ENSG00000159398	26459		91	4.435		HGNC	p.G499W	rs16955812	CES5A	6.06E-05	SNV	T:0.0569						ENST00000290567	protein_coding	getma.org/?cm=var&var=hg19,16,55880681,C,A&fts=all	T:0.0651	hmmpanther:PTHR11559:SF43,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474		G/W	T:0.0003	A	high	1617/2084		getma.org/?cm=msa&ty=f&p=EST5A_HUMAN&rb=9&re=539&var=G499W	deleterious(0)	I3NI11_HUMAN,F5H0J7_HUMAN	T:0.0086	T:0		CES5A,missense_variant,p.Gly528Trp,ENST00000521992,NM_001190158.1;CES5A,missense_variant,p.Gly393Trp,ENST00000518005,;CES5A,missense_variant,p.Gly499Trp,ENST00000290567,NM_001143685.1;CES5A,missense_variant,p.Gly449Trp,ENST00000319165,NM_145024.2;CES5A,missense_variant,p.Gly469Trp,ENST00000520435,;CES5A,splice_region_variant,,ENST00000541580,;CES5A,splice_region_variant,,ENST00000521228,;CES5A,splice_region_variant,,ENST00000544479,;		T:0.0184					MODERATE	1495/1728	G499W	EST5A_HUMAN		T:0	Transcript		probably_damaging(0.999)	.	ENSP00000290567	8.24E-06	CCDS45490.1		T:0	1	
ANKEF1	0	LGGM	GRCh37	20	10030239	10030239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	73	4	.	.	ENST00000378380.3:c.1022G>T	p.Arg341Leu	p.R341L	ENST00000378380	NM_198798.1	341	cGg/cTg	0	1	1	UPI0000125B51	0	NA	ENST00000378380		ENSG00000132623	15803		77	1.5		HGNC	p.R341L		ANKEF1		SNV							ENST00000378380	protein_coding	getma.org/?cm=var&var=hg19,20,10030239,G,T&fts=all		PROSITE_profiles:PS50222,PROSITE_profiles:PS50297,hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		R/L		T	low	1351/3762		getma.org/?cm=msa&ty=f&p=ANKR5_HUMAN&rb=335&re=369&var=R341L	tolerated(0.19)				YES	ANKEF1,missense_variant,p.Arg341Leu,ENST00000378380,NM_198798.1;ANKEF1,missense_variant,p.Arg341Leu,ENST00000378392,NM_022096.4;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,non_coding_transcript_exon_variant,,ENST00000488991,;							MODERATE	1022/2331	R341L	ANKE1_HUMAN			Transcript		benign(0.068)	.	ENSP00000367631		CCDS13108.1			1	
LRGUK	0	LGGM	GRCh37	7	133812190	133812190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	66	4	.	.	ENST00000285928.2:c.70C>A	p.Arg24=	p.R24=	ENST00000285928	NM_144648.1	24	Cga/Aga	0	1	1	UPI0000072C76	0		ENST00000285928		ENSG00000155530	21964		70			HGNC	p.R24R		LRGUK		SNV							ENST00000285928	protein_coding			Low_complexity_(Seg):seg		R		A		139/3163							YES	LRGUK,synonymous_variant,p.=,ENST00000285928,NM_144648.1;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;							LOW	70/2478		LRGUK_HUMAN			Transcript			.	ENSP00000285928		CCDS5830.1			1	
NHEJ1	0	LGGM	GRCh37	2	220012390	220012390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	29	4	.	.	ENST00000356853.5:c.518C>T	p.Thr173Met	p.T173M	ENST00000356853	NM_024782.2	173	aCg/aTg	0	1	1	UPI000006D9F7	0	getma.org/pdb.php?prot=NHEJ1_HUMAN&from=11&to=173&var=T173M	ENST00000356853		ENSG00000187736	25737		33	1.355		HGNC	p.T173M	rs770861190,COSM1016569,COSM3972030,COSM3972031	NHEJ1		SNV			1			0,1,1,1	ENST00000457600	protein_coding	getma.org/?cm=var&var=hg19,2,220012390,G,A&fts=all		Gene3D:1.10.287.450,hmmpanther:PTHR32235,hmmpanther:PTHR32235:SF0		T/M		A	low	652/2094	1.50E-05	getma.org/?cm=msa&ty=f&p=NHEJ1_HUMAN&rb=11&re=173&var=T173M	deleterious(0.04)	C9JWV4_HUMAN			YES	NHEJ1,missense_variant,p.Thr173Met,ENST00000356853,NM_024782.2;NHEJ1,missense_variant,p.Thr173Met,ENST00000409720,;NHEJ1,missense_variant,p.Thr93Met,ENST00000426304,;NHEJ1,missense_variant,p.Thr173Met,ENST00000457600,;NHEJ1,missense_variant,p.Thr173Met,ENST00000418099,;SLC23A3,3_prime_UTR_variant,,ENST00000318673,;NHEJ1,3_prime_UTR_variant,,ENST00000450447,;SLC23A3,non_coding_transcript_exon_variant,,ENST00000498327,;					0,1,1,1		MODERATE	518/900	T173M	NHEJ1_HUMAN			Transcript		benign(0.049)	.	ENSP00000349313	8.24E-06	CCDS2432.1			1	
ITPR2	0	LGGM	GRCh37	12	26943103	26943103	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	23	4	.	.	ENST00000381340.3:c.150C>A	p.Pro50=	p.P50=	ENST00000381340	NM_002223.2	50	ccC/ccA	0	1	1	UPI00001FB7D2	0		ENST00000381340		ENSG00000123104	6181		27			HGNC	p.P50P		ITPR2		SNV							ENST00000242737	protein_coding			Gene3D:2.80.10.50,Pfam_domain:PF08709,hmmpanther:PTHR13715		P		T		567/10511				I1VE21_HUMAN			YES	ITPR2,synonymous_variant,p.=,ENST00000381340,NM_002223.2;ITPR2,synonymous_variant,p.=,ENST00000242737,;ITPR2,intron_variant,,ENST00000545235,;							LOW	150/8106		ITPR2_HUMAN			Transcript			.	ENSP00000370744		CCDS41764.1			1	
B3GNT5	0	LGGM	GRCh37	3	182988119	182988119	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	67	4	.	.	ENST00000326505.3:c.533G>T	p.Trp178Leu	p.W178L	ENST00000326505	NM_032047.4	178	tGg/tTg	0	1	1	UPI000003D75E	0	NA	ENST00000326505		ENSG00000176597	15684		71	3.46		HGNC	p.W178L		B3GNT5		SNV							ENST00000460419	protein_coding	getma.org/?cm=var&var=hg19,3,182988119,G,T&fts=all		hmmpanther:PTHR11214:SF21,hmmpanther:PTHR11214,Pfam_domain:PF01762		W/L		T	medium	1063/4123		getma.org/?cm=msa&ty=f&p=B3GN5_HUMAN&rb=102&re=301&var=W178L	deleterious(0)	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN			YES	B3GNT5,missense_variant,p.Trp178Leu,ENST00000326505,NM_032047.4;B3GNT5,missense_variant,p.Trp178Leu,ENST00000460419,;B3GNT5,missense_variant,p.Trp178Leu,ENST00000465010,;MCF2L2,intron_variant,,ENST00000328913,NM_015078.2;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,downstream_gene_variant,,ENST00000481531,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;							MODERATE	533/1137	W178L	B3GN5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000316173		CCDS3244.1			1	
EPHA1	0	LGGM	GRCh37	7	143088628	143088628	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	16	4	.	.	ENST00000275815.3:c.2853G>A	p.Glu951=	p.E951=	ENST00000275815	NM_005232.4	951	gaG/gaA	0	1	1	UPI000013DA82	0		ENST00000275815		ENSG00000146904	3385		20			HGNC	p.E951E		EPHA1		SNV							ENST00000275815	protein_coding			Superfamily_domains:SSF47769,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Gene3D:1.10.150.50,Pfam_domain:PF00536,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50105		E		T		2940/3363							YES	EPHA1,splice_region_variant,p.=,ENST00000275815,NM_005232.4;ZYX,downstream_gene_variant,,ENST00000322764,NM_003461.4,NM_001010972.1;ZYX,downstream_gene_variant,,ENST00000392910,;ZYX,downstream_gene_variant,,ENST00000354434,;ZYX,downstream_gene_variant,,ENST00000449423,;ZYX,downstream_gene_variant,,ENST00000446634,;EPHA1,upstream_gene_variant,,ENST00000458129,;EPHA1,splice_region_variant,,ENST00000488068,;EPHA1,downstream_gene_variant,,ENST00000494989,;EPHA1,downstream_gene_variant,,ENST00000465208,;ZYX,downstream_gene_variant,,ENST00000436448,;ZYX,downstream_gene_variant,,ENST00000497119,;							LOW	2853/2931		EPHA1_HUMAN			Transcript			.	ENSP00000275815		CCDS5884.1			1	
SPTAN1	0	LGGM	GRCh37	9	131389755	131389755	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	6	4	.	.	ENST00000372739.3:c.6667C>A	p.His2223Asn	p.H2223N	ENST00000372739	NM_001130438.2	2223	Cac/Aac	0	1		UPI000022DA2E	0	getma.org/pdb.php?prot=SPTA2_HUMAN&from=2205&to=2310&var=H2218N	ENST00000372731		ENSG00000197694	11273		10	3.115		HGNC	p.H2218N		SPTAN1		SNV			1				ENST00000372731	protein_coding	getma.org/?cm=var&var=hg19,9,131389755,C,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF250,SMART_domains:SM00150,Superfamily_domains:SSF46966		H/N		A	medium	6762/7857		getma.org/?cm=msa&ty=f&p=SPTA2_HUMAN&rb=2205&re=2310&var=H2218N	tolerated(0.22)					SPTAN1,missense_variant,p.His2223Asn,ENST00000372739,NM_001130438.2;SPTAN1,missense_variant,p.His2223Asn,ENST00000358161,;SPTAN1,missense_variant,p.His2218Asn,ENST00000372731,NM_003127.3,NM_001195532.1;SPTAN1,downstream_gene_variant,,ENST00000491712,;							MODERATE	6652/7419	H2218N	SPTN1_HUMAN			Transcript		benign(0.003)	.	ENSP00000361816		CCDS6905.1			1	
SLC27A6	0	LGGM	GRCh37	5	128301886	128301886	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	17	4	.	.	ENST00000262462.4:c.56T>A	p.Leu19Ter	p.L19*	ENST00000262462		19	tTg/tAg	0	1	1	UPI0000038E83	0	NA	ENST00000262462		ENSG00000113396	11000		21	0		HGNC	p.L19X		SLC27A6		SNV							ENST00000262462	protein_coding	getma.org/?cm=var&var=hg19,5,128301886,T,A&fts=all		hmmpanther:PTHR24096:SF98,hmmpanther:PTHR24096		L/*		A	NA	1066/3219		NA		D6RAJ2_HUMAN			YES	SLC27A6,stop_gained,p.Leu19Ter,ENST00000262462,;SLC27A6,stop_gained,p.Leu19Ter,ENST00000395266,NM_001017372.1,NM_014031.3;SLC27A6,stop_gained,p.Leu19Ter,ENST00000506176,;SLC27A6,intron_variant,,ENST00000508645,;							HIGH	56/1860	L19*	S27A6_HUMAN			Transcript			.	ENSP00000262462		CCDS4145.1			1	
LAIR1	0	LGGM	GRCh37	19	54872712	54872712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	68	4	.	.	ENST00000391742.2:c.175C>A	p.Arg59Ser	p.R59S	ENST00000391742		59	Cgc/Agc	0	1	1	UPI000011A058	0	getma.org/pdb.php?prot=LAIR1_HUMAN&from=28&to=120&var=R59S	ENST00000391742		ENSG00000167613	6477		72	1.99		HGNC	p.R59S		LAIR1		SNV							ENST00000348231	protein_coding	getma.org/?cm=var&var=hg19,19,54872712,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF12,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/S		T	medium	328/1610		getma.org/?cm=msa&ty=f&p=LAIR1_HUMAN&rb=28&re=120&var=R59S	deleterious(0)				YES	LAIR1,missense_variant,p.Arg41Ser,ENST00000391743,;LAIR1,missense_variant,p.Arg58Ser,ENST00000434277,NM_002287.3;LAIR1,missense_variant,p.Arg59Ser,ENST00000391742,;LAIR1,missense_variant,p.Arg52Ser,ENST00000313038,;LAIR1,missense_variant,p.Arg59Ser,ENST00000348231,NM_021706.2;LAIR1,missense_variant,p.Arg58Ser,ENST00000474878,;LAIR1,missense_variant,p.Arg53Ser,ENST00000438193,;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,missense_variant,p.Arg59Ser,ENST00000418556,;LAIR1,missense_variant,p.Arg59Ser,ENST00000391741,;LAIR1,3_prime_UTR_variant,,ENST00000440716,;LAIR1,3_prime_UTR_variant,,ENST00000423853,;LAIR1,3_prime_UTR_variant,,ENST00000436513,;LAIR1,3_prime_UTR_variant,,ENST00000427131,;LAIR1,3_prime_UTR_variant,,ENST00000420483,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,upstream_gene_variant,,ENST00000475389,;LAIR1,upstream_gene_variant,,ENST00000460312,;							MODERATE	175/864	R59S	LAIR1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000375622		CCDS12891.1			1	
LRFN1	0	LGGM	GRCh37	19	39799126	39799126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	7	4	.	.	ENST00000248668.4:c.1463C>A	p.Ala488Asp	p.A488D	ENST00000248668	NM_020862.1	488	gCc/gAc	0	1	1	UPI00001A5C55	0	NA	ENST00000248668		ENSG00000128011	29290		11	0		HGNC	p.A488D		LRFN1		SNV							ENST00000248668	protein_coding	getma.org/?cm=var&var=hg19,19,39799126,G,T&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373,PROSITE_profiles:PS50853		A/D		T	neutral	1463/3381		getma.org/?cm=msa&ty=f&p=LRFN1_HUMAN&rb=423&re=504&var=A488D	tolerated(0.91)				YES	LRFN1,missense_variant,p.Ala488Asp,ENST00000248668,NM_020862.1;							MODERATE	1463/2316	A488D	LRFN1_HUMAN			Transcript		benign(0.027)	.	ENSP00000248668		CCDS46071.1			1	
LRRC4	0	LGGM	GRCh37	7	127669435	127669435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	45	4	.	.	ENST00000249363.3:c.1259G>T	p.Gly420Val	p.G420V	ENST00000249363	NM_022143.4	420	gGg/gTg	0	1	1	UPI0000049DF3	0	getma.org/pdb.php?prot=LRRC4_HUMAN&from=353&to=441&var=G420V	ENST00000249363		ENSG00000128594	15586		49	4.34		HGNC	p.G420V		LRRC4		SNV							ENST00000249363	protein_coding	getma.org/?cm=var&var=hg19,7,127669435,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF9,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/V		A	high	1517/3828		getma.org/?cm=msa&ty=f&p=LRRC4_HUMAN&rb=353&re=441&var=G420V	deleterious(0)	C9JA92_HUMAN,C9J7V8_HUMAN,C9J7K7_HUMAN			YES	LRRC4,missense_variant,p.Gly420Val,ENST00000249363,NM_022143.4;SND1,intron_variant,,ENST00000354725,NM_014390.2;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000476782,;LRRC4,downstream_gene_variant,,ENST00000494115,;LRRC4,downstream_gene_variant,,ENST00000478726,;SND1,intron_variant,,ENST00000470723,;SND1,intron_variant,,ENST00000484767,;							MODERATE	1259/1962	G420V	LRRC4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000249363		CCDS5799.1			1	
KDM4C	0	LGGM	GRCh37	9	6986422	6986422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	42	4	.	.	ENST00000381309.3:c.1433C>A	p.Pro478His	p.P478H	ENST00000381309	NM_015061.3	478	cCt/cAt	0	1	1	UPI0000367602	0	NA	ENST00000381309		ENSG00000107077	17071		46	1.445		HGNC	p.P478H		KDM4C		SNV							ENST00000543771	protein_coding	getma.org/?cm=var&var=hg19,9,6986422,C,A&fts=all		hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694		P/H		A	low	1998/4655		getma.org/?cm=msa&ty=f&p=KDM4C_HUMAN&rb=294&re=493&var=P478H	deleterious(0.04)	C9J879_HUMAN			YES	KDM4C,missense_variant,p.Pro478His,ENST00000381309,NM_015061.3;KDM4C,missense_variant,p.Pro478His,ENST00000381306,NM_001146694.1;KDM4C,missense_variant,p.Pro478His,ENST00000543771,NM_001146695.1;KDM4C,missense_variant,p.Pro500His,ENST00000535193,NM_001146696.1;KDM4C,missense_variant,p.Pro165His,ENST00000428870,;KDM4C,missense_variant,p.Pro297His,ENST00000442236,;KDM4C,missense_variant,p.Pro297His,ENST00000536108,;KDM4C,non_coding_transcript_exon_variant,,ENST00000494570,;KDM4C,3_prime_UTR_variant,,ENST00000438023,;							MODERATE	1433/3171	P478H	KDM4C_HUMAN			Transcript		benign(0.01)	.	ENSP00000370710		CCDS6471.1			1	
DOCK1	0	LGGM	GRCh37	10	128904550	128904550	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	18	4	.	.	ENST00000280333.6:c.2438A>G	p.Asp813Gly	p.D813G	ENST00000280333	NM_001380.3	813	gAt/gGt	0	1	1	UPI0000246CA1	0	NA	ENST00000280333		ENSG00000150760	2987		22	2.42		HGNC	p.D813G		DOCK1		SNV							ENST00000280333	protein_coding	getma.org/?cm=var&var=hg19,10,128904550,A,G&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371		D/G		G	medium	2547/6797		getma.org/?cm=msa&ty=f&p=DOCK1_HUMAN&rb=620&re=819&var=D813G	deleterious(0.01)				YES	DOCK1,missense_variant,p.Asp813Gly,ENST00000280333,NM_001380.3;DOCK1,upstream_gene_variant,,ENST00000473861,;							MODERATE	2438/5598	D813G	DOCK1_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000280333					1	
CCDC83	0	LGGM	GRCh37	11	85630415	85630415	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	69	4	.	.	ENST00000280245.4:c.1197G>T	p.Leu399=	p.L399=	ENST00000280245	NM_173556.3	399	ctG/ctT	0	1		UPI000016181F	0		ENST00000342404		ENSG00000150676	28535		73			HGNC	p.L399L		CCDC83		SNV							ENST00000280245	protein_coding			hmmpanther:PTHR21468,hmmpanther:PTHR21468:SF1		L		T		1320/1969								CCDC83,synonymous_variant,p.=,ENST00000280245,NM_173556.3;CCDC83,synonymous_variant,p.=,ENST00000376067,;CCDC83,synonymous_variant,p.=,ENST00000342404,NM_001286159.1;CCDC83,synonymous_variant,p.=,ENST00000526729,;RP11-90K17.2,intron_variant,,ENST00000531414,;CCDC83,downstream_gene_variant,,ENST00000529676,;							LOW	1104/1242		CCD83_HUMAN			Transcript			.	ENSP00000344512		CCDS66196.1			1	
FTL	0	LGGM	GRCh37	19	49469950	49469950	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	39	4	.	.	ENST00000331825.6:c.486G>T	p.Leu162=	p.L162=	ENST00000331825	NM_000146.3	162	ctG/ctT	0	1	1	UPI0000161F61	0		ENST00000331825		ENSG00000087086	3999		43			HGNC	p.L162L		FTL		SNV			1				ENST00000331825	protein_coding			hmmpanther:PTHR11431,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240		L		T		693/878				Q6DMM8_HUMAN,O00563_HUMAN,B1Q3B3_HUMAN,B1Q387_HUMAN			YES	FTL,synonymous_variant,p.=,ENST00000331825,NM_000146.3;GYS1,downstream_gene_variant,,ENST00000323798,NM_002103.4;GYS1,downstream_gene_variant,,ENST00000263276,NM_001161587.1;GYS1,downstream_gene_variant,,ENST00000541188,;GYS1,downstream_gene_variant,,ENST00000544287,;BAX,downstream_gene_variant,,ENST00000293288,NM_004324.3;BAX,downstream_gene_variant,,ENST00000539787,;BAX,downstream_gene_variant,,ENST00000345358,NM_138764.4,NM_138761.3;BAX,downstream_gene_variant,,ENST00000391871,;GYS1,downstream_gene_variant,,ENST00000594220,;CTD-2639E6.9,downstream_gene_variant,,ENST00000599784,;CTD-2639E6.9,downstream_gene_variant,,ENST00000594305,;BAX,downstream_gene_variant,,ENST00000502487,;BAX,downstream_gene_variant,,ENST00000513545,;GYS1,downstream_gene_variant,,ENST00000472004,;GYS1,downstream_gene_variant,,ENST00000496048,;							LOW	486/528		FRIL_HUMAN			Transcript			.	ENSP00000366525		CCDS33070.1			1	
PCNT	0	LGGM	GRCh37	21	47850094	47850094	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	14	4	.	.	ENST00000359568.5:c.7861G>A	p.Glu2621Lys	p.E2621K	ENST00000359568	NM_006031.5	2621	Gaa/Aaa	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		18	1.955		HGNC	p.E2621K	rs751860192	PCNT	6.06E-05	SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47850094,G,A&fts=all		hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		E/K		A	medium	7968/10560		getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=2580&re=2779&var=E2621K					YES	PCNT,missense_variant,p.Glu2621Lys,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,upstream_gene_variant,,ENST00000482575,;							MODERATE	7861/10011	E2621K	PCNT_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000352572	8.24E-06	CCDS33592.1			1	
FBXL14	0	LGGM	GRCh37	12	1703013	1703013	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	11	4	.	.	ENST00000339235.3:c.220C>A	p.Gln74Lys	p.Q74K	ENST00000339235	NM_152441.2	74	Cag/Aag	0	1	1	UPI000006DA06	0	NA	ENST00000339235		ENSG00000171823	28624		15	2.045		HGNC	p.Q74K		FBXL14		SNV							ENST00000339235	protein_coding	getma.org/?cm=var&var=hg19,12,1703013,G,T&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF276,hmmpanther:PTHR23125		Q/K		T	medium	319/2111		getma.org/?cm=msa&ty=f&p=FXL14_HUMAN&rb=50&re=90&var=Q74K	deleterious(0.03)				YES	FBXL14,missense_variant,p.Gln74Lys,ENST00000339235,NM_152441.2;WNT5B,intron_variant,,ENST00000537031,;WNT5B,intron_variant,,ENST00000545811,;WNT5B,intron_variant,,ENST00000539198,;FBXL14,upstream_gene_variant,,ENST00000543278,;							MODERATE	220/1257	Q74K	FXL14_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000344855		CCDS8509.1			1	
DAGLB	0	LGGM	GRCh37	7	6465650	6465650	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	54	4	.	.	ENST00000297056.6:c.1025G>T	p.Arg342Met	p.R342M	ENST00000297056	NM_139179.3	342	aGg/aTg	0	1	1	UPI000006E01F	0	NA	ENST00000297056		ENSG00000164535	28923		58	2.39		HGNC	p.R215M		DAGLB		SNV							ENST00000428902	protein_coding	getma.org/?cm=var&var=hg19,7,6465650,C,A&fts=all		hmmpanther:PTHR21493:SF8,hmmpanther:PTHR21493,Superfamily_domains:SSF53474		R/M		A	medium	1195/2897		getma.org/?cm=msa&ty=f&p=DGLB_HUMAN&rb=201&re=369&var=R342M	deleterious(0.01)	E7ET49_HUMAN,B3KR38_HUMAN			YES	DAGLB,missense_variant,p.Arg342Met,ENST00000297056,NM_139179.3;DAGLB,missense_variant,p.Arg301Met,ENST00000436575,;DAGLB,missense_variant,p.Arg213Met,ENST00000425398,NM_001142936.1;DAGLB,missense_variant,p.Arg215Met,ENST00000428902,;DAGLB,missense_variant,p.Arg86Met,ENST00000421761,;DAGLB,downstream_gene_variant,,ENST00000432248,;DAGLB,missense_variant,p.Gly156Trp,ENST00000454738,;DAGLB,upstream_gene_variant,,ENST00000462934,;							MODERATE	1025/2019	R342M	DGLB_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000297056		CCDS5350.1			1	
ROBO2	0	LGGM	GRCh37	3	77530350	77530350	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	96	4	.	.	ENST00000487694.3:c.695C>A	p.Pro232Gln	p.P232Q	ENST00000487694	NM_001128929.2	232	cCa/cAa	0	1		UPI00003A9322	0	getma.org/pdb.php?prot=ROBO2_HUMAN&from=133&to=221&var=P216Q	ENST00000461745		ENSG00000185008	10250		100	0.635		HGNC	p.P216Q		ROBO2		SNV			1				ENST00000332191	protein_coding	getma.org/?cm=var&var=hg19,3,77530350,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/Q		A	neutral	1547/8946		getma.org/?cm=msa&ty=f&p=ROBO2_HUMAN&rb=133&re=221&var=P216Q	tolerated(0.08)					ROBO2,missense_variant,p.Pro216Gln,ENST00000461745,NM_002942.4;ROBO2,missense_variant,p.Pro232Gln,ENST00000487694,NM_001128929.2;ROBO2,missense_variant,p.Pro216Gln,ENST00000332191,;ROBO2,missense_variant,p.Pro232Gln,ENST00000602589,;ROBO2,missense_variant,p.Pro216Gln,ENST00000473767,;							MODERATE	647/4137	P216Q	ROBO2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000417164		CCDS43109.1			1	
ERI2	0	LGGM	GRCh37	16	20809899	20809899	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	89	4	.	.	ENST00000357967.4:c.1223G>T	p.Trp408Leu	p.W408L	ENST00000357967	NM_001142725.1	408	tGg/tTg	0	1	1	UPI0000EE8210	0	NA	ENST00000357967		ENSG00000196678	30541		93	2.135		HGNC	p.W315L	rs765664853	ERI2		SNV							ENST00000563117	protein_coding	getma.org/?cm=var&var=hg19,16,20809899,C,A&fts=all		hmmpanther:PTHR23044:SF30,hmmpanther:PTHR23044		W/L		A	medium	1266/3499	0.000114	getma.org/?cm=msa&ty=f&p=ERI2_HUMAN&rb=227&re=426&var=W408L	deleterious(0)				YES	ERI2,missense_variant,p.Trp315Leu,ENST00000564349,;ERI2,missense_variant,p.Trp408Leu,ENST00000357967,NM_001142725.1;ERI2,missense_variant,p.Trp315Leu,ENST00000563117,;ERI2,missense_variant,p.Trp143Leu,ENST00000389345,;ERI2,intron_variant,,ENST00000569729,;ERI2,intron_variant,,ENST00000300005,NM_080663.2;ACSM3,downstream_gene_variant,,ENST00000289416,NM_005622.3;ACSM3,downstream_gene_variant,,ENST00000562251,;ACSM3,downstream_gene_variant,,ENST00000450120,;ACSM3,downstream_gene_variant,,ENST00000569141,;ACSM3,downstream_gene_variant,,ENST00000567387,;ERI2,downstream_gene_variant,,ENST00000565884,;ERI2,downstream_gene_variant,,ENST00000566223,;ERI2,downstream_gene_variant,,ENST00000567562,;ERI2,downstream_gene_variant,,ENST00000562277,;ACSM3,downstream_gene_variant,,ENST00000567711,;ERI2,downstream_gene_variant,,ENST00000563537,;ERI2,3_prime_UTR_variant,,ENST00000568805,;ERI2,non_coding_transcript_exon_variant,,ENST00000562215,;ERI2,intron_variant,,ENST00000562987,;ERI2,downstream_gene_variant,,ENST00000567859,;ACSM3,downstream_gene_variant,,ENST00000567006,;							MODERATE	1223/2076	W408L	ERI2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000350651	4.06E-05	CCDS45436.1			1	
MAST2	0	LGGM	GRCh37	1	46501631	46501631	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	35	4	.	.	ENST00000361297.2:c.5290C>A	p.Leu1764Ile	p.L1764I	ENST00000361297	NM_015112.2	1764	Ctc/Atc	0	1	1	UPI0000458AEB	0	NA	ENST00000361297		ENSG00000086015	19035		39	0.345		HGNC	p.L1764I		MAST2		SNV							ENST00000361297	protein_coding	getma.org/?cm=var&var=hg19,1,46501631,C,A&fts=all				L/I		A	neutral	5573/5738		getma.org/?cm=msa&ty=f&p=MAST2_HUMAN&rb=1492&re=1796&var=L1764I	deleterious_low_confidence(0.05)	Q9NT11_HUMAN			YES	MAST2,missense_variant,p.Leu1764Ile,ENST00000361297,NM_015112.2;MAST2,missense_variant,p.Leu1574Ile,ENST00000372009,;PIK3R3,downstream_gene_variant,,ENST00000262741,NM_003629.3;PIK3R3,downstream_gene_variant,,ENST00000420542,NM_001114172.1;PIK3R3,downstream_gene_variant,,ENST00000372006,;PIK3R3,downstream_gene_variant,,ENST00000354242,;PIK3R3,downstream_gene_variant,,ENST00000340332,;MAST2,downstream_gene_variant,,ENST00000492813,;							MODERATE	5290/5397	L1764I	MAST2_HUMAN			Transcript		benign(0.03)	.	ENSP00000354671		CCDS41326.1			1	
ITPR2	0	LGGM	GRCh37	12	26834857	26834857	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	59	4	.	.	ENST00000381340.3:c.1359G>T	p.Ala453=	p.A453=	ENST00000381340	NM_002223.2	453	gcG/gcT	0	1	1	UPI00001FB7D2	0		ENST00000381340		ENSG00000123104	6181		63			HGNC	p.A453A		ITPR2		SNV							ENST00000381340	protein_coding			Superfamily_domains:0048280,Gene3D:1n4kA02,hmmpanther:PTHR13715		A		A		1776/10511				I1VE21_HUMAN			YES	ITPR2,synonymous_variant,p.=,ENST00000381340,NM_002223.2;							LOW	1359/8106		ITPR2_HUMAN			Transcript			.	ENSP00000370744		CCDS41764.1			1	
FSD2	0	LGGM	GRCh37	15	83455855	83455855	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	92	5	.	.	ENST00000334574.8:c.288C>A	p.Pro96=	p.P96=	ENST00000334574		96	ccC/ccA	0	1	1	UPI0000161097	0		ENST00000334574		ENSG00000186628	18024		97			HGNC	p.P96P		FSD2		SNV							ENST00000561368	protein_coding			hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099		P		T		470/6418				H0YLA8_HUMAN			YES	FSD2,synonymous_variant,p.=,ENST00000334574,;FSD2,synonymous_variant,p.=,ENST00000541889,NM_001007122.2,NM_001281805.1,NM_001281806.1;FSD2,synonymous_variant,p.=,ENST00000561368,;							LOW	288/2250		FSD2_HUMAN			Transcript			.	ENSP00000335651		CCDS45332.1			1	
HAPLN1	0	LGGM	GRCh37	5	82940250	82940250	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	49	5	.	.	ENST00000274341.4:c.707G>T	p.Arg236Met	p.R236M	ENST00000274341	NM_001884.3	236	aGg/aTg	0	1	1	UPI0000131BFF	0	getma.org/pdb.php?prot=HPLN1_HUMAN&from=158&to=253&var=R236M	ENST00000274341		ENSG00000145681	2380		54	3.925		HGNC	p.R236M		HAPLN1		SNV							ENST00000510978	protein_coding	getma.org/?cm=var&var=hg19,5,82940250,C,A&fts=all		PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF10,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436		R/M		A	high	1558/5607		getma.org/?cm=msa&ty=f&p=HPLN1_HUMAN&rb=158&re=253&var=R236M	deleterious(0)	D6RG04_HUMAN,D6RC59_HUMAN,D6RBX9_HUMAN,D6RBS1_HUMAN			YES	HAPLN1,missense_variant,p.Arg236Met,ENST00000274341,NM_001884.3;HAPLN1,missense_variant,p.Arg236Met,ENST00000510978,;HAPLN1,downstream_gene_variant,,ENST00000508307,;HAPLN1,downstream_gene_variant,,ENST00000504713,;HAPLN1,downstream_gene_variant,,ENST00000503117,;							MODERATE	707/1065	R236M	HPLN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274341		CCDS4061.1			1	
PAN3	0	LGGM	GRCh37	13	28830446	28830446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	89	5	.	.	ENST00000380958.3:c.1018G>T	p.Gly340Trp	p.G340W	ENST00000380958	NM_175854.7	340	Ggg/Tgg	0	1	1	UPI0001BE8112	0	NA	ENST00000380958		ENSG00000152520	29991		94	0.695		HGNC	p.G340W		PAN3		SNV							ENST00000380958	protein_coding	getma.org/?cm=var&var=hg19,13,28830446,G,T&fts=all		hmmpanther:PTHR12272		G/W		T	neutral	1170/2833		getma.org/?cm=msa&ty=f&p=PAN3_HUMAN&rb=201&re=400&var=G340W	deleterious(0)	Q6ZMN5_HUMAN			YES	PAN3,missense_variant,p.Gly140Trp,ENST00000399613,;PAN3,missense_variant,p.Gly28Trp,ENST00000282391,;PAN3,missense_variant,p.Gly340Trp,ENST00000380958,NM_175854.7;PAN3,non_coding_transcript_exon_variant,,ENST00000483842,;PAN3,non_coding_transcript_exon_variant,,ENST00000503791,;							MODERATE	1018/2664	G340W	PAN3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370345		CCDS9329.2			1	
TNP2	0	LGGM	GRCh37	16	11362911	11362911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	43	5	.	.	ENST00000312693.3:c.209G>T	p.Ser70Ile	p.S70I	ENST00000312693	NM_005425.4	70	aGc/aTc	0	1	1	UPI000013612C	0	NA	ENST00000312693		ENSG00000178279	11952		48	1.32		HGNC	p.S70I		TNP2		SNV							ENST00000312693	protein_coding	getma.org/?cm=var&var=hg19,16,11362911,C,A&fts=all		Pfam_domain:PF01254,hmmpanther:PTHR17488,Low_complexity_(Seg):seg		S/I		A	low	279/626		getma.org/?cm=msa&ty=f&p=STP2_HUMAN&rb=1&re=138&var=S70I	deleterious(0.04)	Q4VB56_HUMAN			YES	TNP2,missense_variant,p.Ser70Ile,ENST00000312693,NM_005425.4;RMI2,intron_variant,,ENST00000572173,;PRM3,downstream_gene_variant,,ENST00000327157,NM_021247.1;TNP2,non_coding_transcript_exon_variant,,ENST00000560751,;RMI2,intron_variant,,ENST00000573910,;							MODERATE	209/417	S70I	STP2_HUMAN			Transcript		possibly_damaging(0.727)	.	ENSP00000325738		CCDS45410.1			1	
HIST1H2BK	0	LGGM	GRCh37	6	27114340	27114340	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	130	5	.	.	ENST00000396891.4:c.238C>A	p.Arg80Ser	p.R80S	ENST00000396891	NM_080593.2	80	Cgc/Agc	0	1		UPI0000073CF8	0	getma.org/pdb.php?prot=H2B1K_HUMAN&from=32&to=102&var=R80S	ENST00000356950		ENSG00000197903	13954		135	2.82		HGNC	p.R80S		HIST1H2BK		SNV							ENST00000356950	protein_coding	getma.org/?cm=var&var=hg19,6,27114340,G,T&fts=all		hmmpanther:PTHR23428,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621		R/S		T	medium	238/381		getma.org/?cm=msa&ty=f&p=H2B1K_HUMAN&rb=32&re=102&var=R80S	deleterious_low_confidence(0.02)					HIST1H2BK,missense_variant,p.Arg80Ser,ENST00000396891,NM_080593.2;HIST1H2BK,missense_variant,p.Arg80Ser,ENST00000356950,;HIST1H2AH,upstream_gene_variant,,ENST00000377459,NM_080596.2;MIR3143,upstream_gene_variant,,ENST00000584253,;							MODERATE	238/381	R80S	H2B1K_HUMAN			Transcript		benign(0.263)	.	ENSP00000349430		CCDS4621.1			1	
CLDN8	0	LGGM	GRCh37	21	31588236	31588236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	22	5	.	.	ENST00000399899.1:c.8C>A	p.Thr3Asn	p.T3N	ENST00000399899	NM_199328.2	3	aCc/aAc	0	1	1	UPI00000389FD	0	NA	ENST00000399899		ENSG00000156284	2050		27	-0.06		HGNC	p.T3N		CLDN8		SNV							ENST00000286809	protein_coding	getma.org/?cm=var&var=hg19,21,31588236,G,T&fts=all		hmmpanther:PTHR12002:SF24,hmmpanther:PTHR12002		T/N		T	neutral	156/2068		getma.org/?cm=msa&ty=f&p=CLD8_HUMAN&rb=1&re=33&var=T3N	tolerated(0.31)				YES	CLDN8,missense_variant,p.Thr3Asn,ENST00000399899,NM_199328.2;CLDN8,missense_variant,p.Thr3Asn,ENST00000286809,;LINC00307,upstream_gene_variant,,ENST00000451410,;							MODERATE	8/678	T3N	CLD8_HUMAN			Transcript		benign(0.059)	.	ENSP00000382783		CCDS13587.1			1	
ZNF496	0	LGGM	GRCh37	1	247464431	247464431	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	38	5	.	.	ENST00000294753.4:c.1154T>A	p.Leu385His	p.L385H	ENST00000294753	NM_032752.1	385	cTc/cAc	0	1	1	UPI000007025B	0	NA	ENST00000294753		ENSG00000162714	23713		43	0.805		HGNC	p.L421H		ZNF496		SNV							ENST00000366498	protein_coding	getma.org/?cm=var&var=hg19,1,247464431,A,T&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF212		L/H		T	low	1619/5336		getma.org/?cm=msa&ty=f&p=ZN496_HUMAN&rb=255&re=405&var=L385H	tolerated(0.08)				YES	ZNF496,missense_variant,p.Leu385His,ENST00000294753,NM_032752.1;ZNF496,missense_variant,p.Leu310His,ENST00000461277,;ZNF496,missense_variant,p.Leu421His,ENST00000366498,;ZNF496,non_coding_transcript_exon_variant,,ENST00000462139,;							MODERATE	1154/1764	L385H	ZN496_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000294753		CCDS1631.1			1	
KRT33B	0	LGGM	GRCh37	17	39521493	39521493	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	54	5	.	.	ENST00000251646.3:c.810G>T	p.Ala270=	p.A270=	ENST00000251646	NM_002279.4	270	gcG/gcT	0	1	1	UPI000012DAFE	0		ENST00000251646		ENSG00000131738	6451		59			HGNC	p.A270A		KRT33B		SNV							ENST00000251646	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239		A		A		860/1607							YES	KRT33B,synonymous_variant,p.=,ENST00000251646,NM_002279.4;							LOW	810/1215		KT33B_HUMAN			Transcript			.	ENSP00000251646		CCDS11389.1			1	
TUB	0	LGGM	GRCh37	11	8060469	8060476	+	frameshift_variant	Frame_Shift_Del	DEL	GAGACAGG	GAGACAGG	-	novel	by Submitter	H061394	H061394N.bam	GAGACAGG	GAGACAGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	9	5	.	.	ENST00000305253.4:c.51_58del	p.Glu17AspfsTer53	p.E17Dfs*53	ENST00000305253	NM_003320.4	17	GAGACAGGg/g	0	1	1	UPI000013EA27	0		ENST00000305253		ENSG00000166402	12406		14			HGNC	p.17_19del	rs752465674	TUB		deletion			1				ENST00000305253	protein_coding					ETG/X		-		290-297/6420				Q9H4D2_HUMAN			YES	TUB,frameshift_variant,p.Glu17AspfsTer53,ENST00000305253,NM_003320.4;TUB,intron_variant,,ENST00000534099,;RP11-236J17.6,non_coding_transcript_exon_variant,,ENST00000528151,;RP11-236J17.6,intron_variant,,ENST00000526646,;							HIGH	49-56/1686		TUB_HUMAN			Transcript	2		.	ENSP00000305426		CCDS7786.1			1	
NUP43	0	LGGM	GRCh37	6	150064845	150064845	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	29	5	.	.	ENST00000340413.2:c.250G>A	p.Asp84Asn	p.D84N	ENST00000340413	NM_198887.1	84	Gac/Aac	0	1	1	UPI000013071D	0	NA	ENST00000340413		ENSG00000120253	21182		34	1.825		HGNC	p.D84N		NUP43		SNV							ENST00000340413	protein_coding	getma.org/?cm=var&var=hg19,6,150064845,C,T&fts=all		hmmpanther:PTHR22652,hmmpanther:PTHR22652:SF0,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/N		T	low	327/3874		getma.org/?cm=msa&ty=f&p=NUP43_HUMAN&rb=1&re=200&var=D84N	tolerated(0.15)	A0PJK4_HUMAN			YES	NUP43,missense_variant,p.Asp84Asn,ENST00000340413,NM_198887.1;NUP43,missense_variant,p.Asp145Asn,ENST00000367403,;NUP43,missense_variant,p.Asp84Asn,ENST00000460354,;NUP43,missense_variant,p.Asp84Asn,ENST00000367404,;NUP43,missense_variant,p.Asp91Asn,ENST00000543637,;NUP43,non_coding_transcript_exon_variant,,ENST00000463048,;NUP43,missense_variant,p.Asp84Asn,ENST00000403890,;NUP43,missense_variant,p.Asp84Asn,ENST00000367402,;							MODERATE	250/1143	D84N	NUP43_HUMAN			Transcript		benign(0.348)	.	ENSP00000342262		CCDS5218.1			1	
IFNAR2	0	LGGM	GRCh37	21	34635097	34635097	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	41	6	.	.	ENST00000342136.4:c.841-1G>A		p.X281_splice	ENST00000342136				0	1	1	UPI000012D69B	0		ENST00000342136		ENSG00000159110	5433	0.000766	47			HGNC	-	rs773890486,COSM1130550	IFNAR2	0.00268	SNV			1	0.00309		0,1	ENST00000382241	protein_coding							A		-/2899	0.00214			C9JCU0_HUMAN			YES	IFNAR2,splice_acceptor_variant,,ENST00000342136,;IFNAR2,splice_acceptor_variant,,ENST00000382241,NM_207585.1;IFNAR2,splice_acceptor_variant,,ENST00000342101,;IFNAR2,splice_acceptor_variant,,ENST00000443073,;IFNAR2,splice_acceptor_variant,,ENST00000413881,;IFNAR2,3_prime_UTR_variant,,ENST00000404220,;AP000295.9,intron_variant,,ENST00000433395,;IL10RB,upstream_gene_variant,,ENST00000290200,NM_000628.4;IFNAR2,downstream_gene_variant,,ENST00000382264,NM_000874.3,NM_207584.1;IL10RB-AS1,downstream_gene_variant,,ENST00000411998,;IFNAR2,splice_acceptor_variant,,ENST00000382238,;AP000295.9,intron_variant,,ENST00000432231,;IL10RB,upstream_gene_variant,,ENST00000422891,;IFNAR2,downstream_gene_variant,,ENST00000417007,;	0.00203				0,1		HIGH	841/1548		INAR2_HUMAN	0.00379		Transcript			common_variant	ENSP00000343957	0.00418	CCDS13621.1	0.00132		1	
ATP10A	0	LGGM	GRCh37	15	25959339	25959339	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	19	6	.	.	ENST00000356865.6:c.1826T>A	p.Phe609Tyr	p.F609Y	ENST00000356865	NM_024490.3	609	tTc/tAc	0	1	1	UPI0000124FAB	0	NA	ENST00000356865		ENSG00000206190	13542		25	2.19		HGNC	p.F609Y		ATP10A		SNV			1				ENST00000356865	protein_coding	getma.org/?cm=var&var=hg19,15,25959339,A,T&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710		F/Y		T	medium	1938/6680		getma.org/?cm=msa&ty=f&p=AT10A_HUMAN&rb=424&re=1040&var=F609Y	tolerated(0.07)				YES	ATP10A,missense_variant,p.Phe609Tyr,ENST00000356865,NM_024490.3;ATP10A,3_prime_UTR_variant,,ENST00000555815,;							MODERATE	1826/4500	F609Y	AT10A_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000349325		CCDS32178.1			1	
KCNH8	0	LGGM	GRCh37	3	19559544	19559544	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	12	6	.	.	ENST00000328405.2:c.2597A>G	p.Gln866Arg	p.Q866R	ENST00000328405	NM_144633.2	866	cAg/cGg	0	1	1	UPI0000167D12	0	NA	ENST00000328405		ENSG00000183960	18864		18	1.59		HGNC	p.Q866R		KCNH8		SNV							ENST00000328405	protein_coding	getma.org/?cm=var&var=hg19,3,19559544,A,G&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380,Coiled-coils_(Ncoils):Coil		Q/R		G	low	2863/5137		getma.org/?cm=msa&ty=f&p=KCNH8_HUMAN&rb=853&re=1105&var=Q866R	tolerated(0.18)				YES	KCNH8,missense_variant,p.Gln866Arg,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;							MODERATE	2597/3324	Q866R	KCNH8_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000328813		CCDS2632.1			1	
SLC4A9	0	LGGM	GRCh37	5	139751849	139751849	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	7	6	.	.	ENST00000230993.6:c.2765G>A	p.Arg922Gln	p.R922Q	ENST00000230993	NM_001258428.1	922	cGa/cAa	0	1		UPI000018336F	0	NA	ENST00000507527		ENSG00000113073	11035		13	2.905		HGNC	p.R835Q	rs762998447,COSM4155479,COSM4155478,COSM4155480	SLC4A9		SNV						0,1,1,1	ENST00000506545	protein_coding	getma.org/?cm=var&var=hg19,5,139751849,G,A&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF33,TIGRFAM_domain:TIGR00834		R/Q		A	medium	2787/3258	5.60E-05	getma.org/?cm=msa&ty=f&p=B3A4_HUMAN&rb=892&re=983&var=R922Q	deleterious(0.01)					SLC4A9,missense_variant,p.Arg922Gln,ENST00000230993,NM_001258428.1;SLC4A9,missense_variant,p.Arg898Gln,ENST00000506757,NM_031467.2,NM_001258426.1;SLC4A9,missense_variant,p.Arg922Gln,ENST00000507527,;SLC4A9,missense_variant,p.Arg884Gln,ENST00000432095,;SLC4A9,missense_variant,p.Arg835Gln,ENST00000506545,NM_001258427.1;CTC-329D1.2,intron_variant,,ENST00000507521,;SLC4A9,non_coding_transcript_exon_variant,,ENST00000504742,;SLC4A9,downstream_gene_variant,,ENST00000514849,;					0,1,1,1		MODERATE	2765/2952	R922Q	B3A4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000427661	2.48E-05	CCDS58973.1			1	
CATSPERG	0	LGGM	GRCh37	19	38858339	38858339	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	126	6	.	.	ENST00000409235.3:c.2853G>T	p.Val951=	p.V951=	ENST00000409235	NM_021185.4	951	gtG/gtT	0	1	1	UPI000022A813	0		ENST00000409235		ENSG00000099338	25243		132			HGNC	p.V951V		CATSPERG		SNV							ENST00000409235	protein_coding			Pfam_domain:PF15064,hmmpanther:PTHR14327		V		T		2968/3746				Q32MQ2_HUMAN			YES	CATSPERG,synonymous_variant,p.=,ENST00000409235,NM_021185.4;CATSPERG,synonymous_variant,p.=,ENST00000410018,;CATSPERG,3_prime_UTR_variant,,ENST00000215069,;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,;							LOW	2853/3480		CTSRG_HUMAN			Transcript			.	ENSP00000386962		CCDS12514.2			1	
POLR2A	0	LGGM	GRCh37	17	7406449	7406449	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	15	7	.	.	ENST00000322644.6:c.2766T>A	p.Phe922Leu	p.F922L	ENST00000322644	NM_000937.4	922	ttT/ttA	0	1	1	UPI0000140EB9	0	getma.org/pdb.php?prot=RPB1_HUMAN&from=896&to=1079&var=F922L	ENST00000322644		ENSG00000181222	9187		22	1.34		HGNC	p.F922L		POLR2A		SNV							ENST00000322644	protein_coding	getma.org/?cm=var&var=hg19,17,7406449,T,A&fts=all		Pfam_domain:PF04992,Pfam_domain:PF04998,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484		F/L		A	low	3165/6749		getma.org/?cm=msa&ty=f&p=RPB1_HUMAN&rb=896&re=1079&var=F922L					YES	POLR2A,missense_variant,p.Phe922Leu,ENST00000322644,NM_000937.4;POLR2A,downstream_gene_variant,,ENST00000572844,;POLR2A,non_coding_transcript_exon_variant,,ENST00000576718,;POLR2A,downstream_gene_variant,,ENST00000575547,;POLR2A,downstream_gene_variant,,ENST00000576952,;POLR2A,upstream_gene_variant,,ENST00000574158,;POLR2A,downstream_gene_variant,,ENST00000576114,;							MODERATE	2766/5913	F922L	RPB1_HUMAN			Transcript		benign(0.029)	.	ENSP00000314949		CCDS32548.1			1	
MED13	0	LGGM	GRCh37	17	60032913	60032913	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	64	7	.	.	ENST00000397786.2:c.5798G>A	p.Gly1933Asp	p.G1933D	ENST00000397786	NM_005121.2	1933	gGt/gAt	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474		71	1.08		HGNC	p.G1933D		MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60032913,C,T&fts=all		Pfam_domain:PF06333,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		G/D		T	low	5875/10465		getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=1640&re=2165&var=G1933D	tolerated(0.18)				YES	MED13,missense_variant,p.Gly1933Asp,ENST00000397786,NM_005121.2;MED13,non_coding_transcript_exon_variant,,ENST00000582786,;							MODERATE	5798/6525	G1933D	MED13_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380888		CCDS42366.1			1	
TCF7L1	0	LGGM	GRCh37	2	85529635	85529635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	132	7	.	.	ENST00000282111.3:c.554C>A	p.Pro185Gln	p.P185Q	ENST00000282111	NM_031283.2	185	cCg/cAg	0	1	1	UPI0000136846	0	NA	ENST00000282111		ENSG00000152284	11640		139	2.015		HGNC	p.P185Q		TCF7L1		SNV							ENST00000282111	protein_coding	getma.org/?cm=var&var=hg19,2,85529635,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25,Pfam_domain:PF08347		P/Q		A	medium	829/2968		getma.org/?cm=msa&ty=f&p=TF7L1_HUMAN&rb=1&re=250&var=P185Q	deleterious(0)	Q53T87_HUMAN,C9JPE3_HUMAN			YES	TCF7L1,missense_variant,p.Pro185Gln,ENST00000282111,NM_031283.2;TCF7L1,downstream_gene_variant,,ENST00000442813,;AC093162.1,downstream_gene_variant,,ENST00000408652,;TCF7L1,upstream_gene_variant,,ENST00000490744,;							MODERATE	554/1767	P185Q	TF7L1_HUMAN			Transcript		possibly_damaging(0.769)	.	ENSP00000282111		CCDS1971.1			1	
XKR4	0	LGGM	GRCh37	8	56015384	56015384	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	3	7	.	.	ENST00000327381.6:c.336C>T	p.Cys112=	p.C112=	ENST00000327381	NM_052898.1	112	tgC/tgT	0	1	1	UPI000016098C	0		ENST00000327381		ENSG00000206579	29394		10			HGNC	p.C112C		XKR4		SNV							ENST00000327381	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129		C		T		436/19880							YES	XKR4,synonymous_variant,p.=,ENST00000327381,NM_052898.1;							LOW	336/1953		XKR4_HUMAN			Transcript			.	ENSP00000328326		CCDS34893.1			1	
COL5A2	0	LGGM	GRCh37	2	189910614	189910614	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	21	8	.	.	ENST00000374866.3:c.3221G>T	p.Gly1074Val	p.G1074V	ENST00000374866	NM_000393.3	1074	gGg/gTg	0	1	1	UPI00006C511C	0	getma.org/pdb.php?prot=CO5A2_HUMAN&from=1053&to=1128&var=G1074V	ENST00000374866		ENSG00000204262	2210		29	4.03		HGNC	p.G1074V		COL5A2		SNV			1				ENST00000374866	protein_coding	getma.org/?cm=var&var=hg19,2,189910614,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481		G/V		A	high	3496/6949		getma.org/?cm=msa&ty=f&p=CO5A2_HUMAN&rb=1053&re=1128&var=G1074V		D3DPH5_HUMAN			YES	COL5A2,missense_variant,p.Gly1074Val,ENST00000374866,NM_000393.3;							MODERATE	3221/4500	G1074V	CO5A2_HUMAN			Transcript		unknown(0)	.	ENSP00000364000		CCDS33350.1			1	
NES	0	LGGM	GRCh37	1	156639509	156639509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	49	8	.	.	ENST00000368223.3:c.4471G>T	p.Asp1491Tyr	p.D1491Y	ENST00000368223	NM_006617.1	1491	Gac/Tac	0	1	1	UPI0000213DC0	0	NA	ENST00000368223		ENSG00000132688	7756		57	1.65		HGNC	p.D1491Y		NES		SNV							ENST00000368223	protein_coding	getma.org/?cm=var&var=hg19,1,156639509,C,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF131		D/Y		A	low	4604/5558		getma.org/?cm=msa&ty=f&p=NEST_HUMAN&rb=871&re=1620&var=D1491Y	deleterious(0)	Q2YDX4_HUMAN			YES	NES,missense_variant,p.Asp1491Tyr,ENST00000368223,NM_006617.1;							MODERATE	4471/4866	D1491Y	NEST_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000357206		CCDS1151.1			1	
ADGB	0	LGGM	GRCh37	6	147122398	147122398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	15	8	.	.	ENST00000397944.3:c.4617T>A	p.Asp1539Glu	p.D1539E	ENST00000397944	NM_024694.3	1539	gaT/gaA	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		23	0.55		HGNC	p.D1539E		ADGB		SNV							ENST00000397944	protein_coding	getma.org/?cm=var&var=hg19,6,147122398,T,A&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		D/E		A	neutral	4693/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=1401&re=1600&var=D1539E	tolerated(0.06)				YES	ADGB,missense_variant,p.Asp1539Glu,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Asp497Glu,ENST00000367490,;ADGB,3_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;ADGB,upstream_gene_variant,,ENST00000367489,;KATNBL1P6,downstream_gene_variant,,ENST00000562413,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000480328,;KATNBL1P6,downstream_gene_variant,,ENST00000453433,;							MODERATE	4617/5004	D1539E	ADGB_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000381036					1	
CTNNBIP1	0	LGGM	GRCh37	1	9932089	9932089	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	1	8	.	.	ENST00000377263.1:c.34G>T	p.Glu12Ter	p.E12*	ENST00000377263	NM_001012329.1	12	Gag/Tag	0	1		UPI0000073A39	0		ENST00000377256		ENSG00000178585	16913		9			HGNC	p.E12X		CTNNBIP1		SNV							ENST00000377258	protein_coding			hmmpanther:PTHR16505,Gene3D:1m1eB01,Pfam_domain:PF06384,Superfamily_domains:SSF81730		E/*		A		180/451								CTNNBIP1,stop_gained,p.Glu12Ter,ENST00000377263,NM_001012329.1,NM_020248.2;CTNNBIP1,stop_gained,p.Glu12Ter,ENST00000537447,;CTNNBIP1,stop_gained,p.Glu12Ter,ENST00000400904,;CTNNBIP1,stop_gained,p.Glu12Ter,ENST00000377258,;CTNNBIP1,stop_gained,p.Glu12Ter,ENST00000377256,;							HIGH	34/246		CNBP1_HUMAN			Transcript			.	ENSP00000366466		CCDS106.1			1	
CYB5R3	0	LGGM	GRCh37	22	43019815	43019815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	31	8	.	.	ENST00000361740.4:c.812C>T	p.Thr271Met	p.T271M	ENST00000361740	NM_001171660.1	271	aCg/aTg	0	1		UPI0000167B09	0	getma.org/pdb.php?prot=NB5R3_HUMAN&from=177&to=285&var=T238M	ENST00000352397		ENSG00000100243	2873	0.000259	39	2.66		HGNC	p.T271M	rs765710455	CYB5R3		SNV			1				ENST00000361740	protein_coding	getma.org/?cm=var&var=hg19,22,43019815,G,A&fts=all		Gene3D:3.40.50.80,Pfam_domain:PF00175,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF80,Superfamily_domains:SSF52343		T/M		A	medium	966/2124		getma.org/?cm=msa&ty=f&p=NB5R3_HUMAN&rb=177&re=285&var=T238M	deleterious(0)	B1AHF3_HUMAN				CYB5R3,missense_variant,p.Thr271Met,ENST00000361740,NM_001171660.1;CYB5R3,missense_variant,p.Thr215Met,ENST00000396303,NM_007326.4,NM_001171661.1;CYB5R3,missense_variant,p.Thr215Met,ENST00000407623,NM_001129819.2;CYB5R3,missense_variant,p.Thr238Met,ENST00000352397,NM_000398.6;CYB5R3,missense_variant,p.Thr215Met,ENST00000407332,;CYB5R3,missense_variant,p.Thr215Met,ENST00000402438,;CYB5R3,downstream_gene_variant,,ENST00000438270,;CYB5R3,non_coding_transcript_exon_variant,,ENST00000470741,;							MODERATE	713/906	T238M	NB5R3_HUMAN			Transcript		possibly_damaging(0.826)	.	ENSP00000338461	2.47E-05	CCDS33658.1			1	
FAHD2A	0	LGGM	GRCh37	2	96072837	96072837	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	22	8	.	.	ENST00000233379.4:c.394A>G	p.Ile132Val	p.I132V	ENST00000233379	NM_016044.2	132	Atc/Gtc	0	1	1	UPI000006D4CC	0	getma.org/pdb.php?prot=FAH2A_HUMAN&from=107&to=314&var=I132V	ENST00000233379		ENSG00000115042	24252		30	0.12		HGNC	p.I132V		FAHD2A		SNV							ENST00000233379	protein_coding	getma.org/?cm=var&var=hg19,2,96072837,A,G&fts=all		Gene3D:3.90.850.10,Pfam_domain:PF01557,hmmpanther:PTHR11820,hmmpanther:PTHR11820:SF74,Superfamily_domains:SSF56529		I/V		G	neutral	547/4757		getma.org/?cm=msa&ty=f&p=FAH2A_HUMAN&rb=107&re=314&var=I132V	tolerated(0.27)	C9JGM0_HUMAN,C9J5B6_HUMAN			YES	FAHD2A,missense_variant,p.Ile132Val,ENST00000233379,NM_016044.2;FAHD2A,missense_variant,p.Ile132Val,ENST00000447036,;FAHD2A,downstream_gene_variant,,ENST00000418606,;FAHD2A,downstream_gene_variant,,ENST00000445649,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000463940,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000470100,;							MODERATE	394/945	I132V	FAH2A_HUMAN			Transcript		benign(0.122)	.	ENSP00000233379		CCDS2014.1			1	
OR11L1	0	LGGM	GRCh37	1	248004801	248004801	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	69	8	.	.	ENST00000355784.2:c.398C>G	p.Pro133Arg	p.P133R	ENST00000355784	NM_001001959.1	133	cCc/cGc	0	1	1	UPI0000061EBC	0	getma.org/pdb.php?prot=O11L1_HUMAN&from=1&to=138&var=P133R	ENST00000355784		ENSG00000197591	14998		77	1.43		HGNC	p.P133R		OR11L1		SNV							ENST00000355784	protein_coding	getma.org/?cm=var&var=hg19,1,248004801,G,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF12,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		P/R		C	low	454/1056		getma.org/?cm=msa&ty=f&p=O11L1_HUMAN&rb=1&re=138&var=P133R	deleterious(0.04)				YES	OR11L1,missense_variant,p.Pro133Arg,ENST00000355784,NM_001001959.1;							MODERATE	398/969	P133R	O11L1_HUMAN			Transcript		benign(0.064)	.	ENSP00000348033		CCDS31098.1			1	
CBLN1	0	LGGM	GRCh37	16	49315240	49315240	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	11	8	.	.	ENST00000219197.6:c.137C>G	p.Pro46Arg	p.P46R	ENST00000219197	NM_004352.3	46	cCc/cGc	0	1	1	UPI0000127506	0	NA	ENST00000219197		ENSG00000102924	1543		19	1.845		HGNC	p.P46R		CBLN1		SNV							ENST00000219197	protein_coding	getma.org/?cm=var&var=hg19,16,49315240,G,C&fts=all		hmmpanther:PTHR22923:SF5,hmmpanther:PTHR22923		P/R		C	low	503/2435		getma.org/?cm=msa&ty=f&p=CBLN1_HUMAN&rb=1&re=62&var=P46R	tolerated(0.21)				YES	CBLN1,missense_variant,p.Pro46Arg,ENST00000219197,NM_004352.3;CBLN1,missense_variant,p.Pro46Arg,ENST00000536749,;CBLN1,missense_variant,p.Pro46Arg,ENST00000564786,;							MODERATE	137/582	P46R	CBLN1_HUMAN			Transcript		benign(0.194)	.	ENSP00000219197		CCDS10736.1			1	
C12orf50	0	LGGM	GRCh37	12	88388476	88388476	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	77	9	.	.	ENST00000298699.2:c.526C>T	p.Gln176Ter	p.Q176*	ENST00000298699	NM_152589.1	176	Caa/Taa	0	1	1	UPI0000071382	0	NA	ENST00000298699		ENSG00000165805	26665		86	0		HGNC	p.Q176X		C12orf50		SNV							ENST00000550553	protein_coding	getma.org/?cm=var&var=hg19,12,88388476,G,A&fts=all		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF1		Q/*		A	NA	707/1718		NA		F8VXH4_HUMAN			YES	C12orf50,stop_gained,p.Gln176Ter,ENST00000298699,NM_152589.1;C12orf50,stop_gained,p.Gln176Ter,ENST00000550553,;C12orf50,downstream_gene_variant,,ENST00000551163,;C12orf50,non_coding_transcript_exon_variant,,ENST00000551944,;							HIGH	526/1245	Q176*	CL050_HUMAN			Transcript			.	ENSP00000298699		CCDS9031.1			1	
HECTD1	0	LGGM	GRCh37	14	31590632	31590632	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	13	9	.	.	ENST00000399332.1:c.5195C>T	p.Pro1732Leu	p.P1732L	ENST00000399332	NM_015382.2	1732	cCa/cTa	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		22	0		HGNC	p.P1732L		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31590632,G,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75		P/L		A	neutral	5684/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=1367&re=1750&var=P1732L	tolerated_low_confidence(0.21)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Pro1732Leu,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Pro1732Leu,ENST00000553700,;HECTD1,missense_variant,p.Pro1159Leu,ENST00000553957,;HECTD1,missense_variant,p.Pro98Leu,ENST00000554882,;HECTD1,3_prime_UTR_variant,,ENST00000555915,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;HECTD1,non_coding_transcript_exon_variant,,ENST00000554027,;							MODERATE	5195/7833	P1732L	HECD1_HUMAN			Transcript		benign(0)	.	ENSP00000382269		CCDS41939.1			1	
GPR124	0	LGGM	GRCh37	8	37672445	37672445	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	7	9	.	.	ENST00000412232.2:c.298C>T	p.Arg100Cys	p.R100C	ENST00000412232	NM_032777.9	100	Cgc/Tgc	0	1	1	UPI00004AE50D	0	getma.org/pdb.php?prot=GP124_HUMAN&from=87&to=144&var=R100C	ENST00000412232	not_provided	ENSG00000020181	17849	8.64E-05	16	1.34		HGNC	p.R100C	rs267601911	GPR124	0.000303	SNV						1	ENST00000412232	protein_coding	getma.org/?cm=var&var=hg19,8,37672445,C,T&fts=all		PROSITE_profiles:PS51450,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058		R/C		T	low	311/5651	3.00E-05	getma.org/?cm=msa&ty=f&p=GP124_HUMAN&rb=87&re=144&var=R100C	deleterious(0)				YES	GPR124,missense_variant,p.Arg100Cys,ENST00000315215,;GPR124,missense_variant,p.Arg100Cys,ENST00000412232,NM_032777.9;GPR124,missense_variant,p.Arg58Cys,ENST00000428068,;							MODERATE	298/4017	R100C	GP124_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000406367	6.59E-05	CCDS6097.2			1	
KCNQ1	0	LGGM	GRCh37	11	2606455	2606455	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	11	9	.	.	ENST00000155840.5:c.1046C>T	p.Ser349Leu	p.S349L	ENST00000155840	NM_000218.2	349	tCg/tTg	0	1	1	UPI000004662D	0	NA	ENST00000155840		ENSG00000053918	6294		20	2.785		HGNC	p.S222L	COSM926058	KCNQ1		SNV			1			1	ENST00000335475	protein_coding	getma.org/?cm=var&var=hg19,11,2606455,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF109,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169		S/L		T	medium	1154/3245		getma.org/?cm=msa&ty=f&p=KCNQ1_HUMAN&rb=348&re=450&var=S349L	deleterious(0)	Q96AI9_HUMAN,A0FIK7_HUMAN			YES	KCNQ1,missense_variant,p.Ser349Leu,ENST00000155840,NM_000218.2,NM_181798.1;KCNQ1,missense_variant,p.Ser222Leu,ENST00000335475,;					1		MODERATE	1046/2031	S349L	KCNQ1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000155840		CCDS7736.1			1	
CCDC132	0	LGGM	GRCh37	7	92886744	92886744	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	48	10	.	.	ENST00000305866.5:c.390A>T	p.Gln130His	p.Q130H	ENST00000305866	NM_017667.3	130	caA/caT	0	1	1	UPI000015F998	0	NA	ENST00000305866		ENSG00000004766	25956		58	0.805		HGNC	p.Q129H		CCDC132		SNV							ENST00000458530	protein_coding	getma.org/?cm=var&var=hg19,7,92886744,A,T&fts=all		hmmpanther:PTHR13258,Pfam_domain:PF10475		Q/H		T	low	518/3613		getma.org/?cm=msa&ty=f&p=CC132_HUMAN&rb=54&re=345&var=Q130H	tolerated(0.06)	A7MD03_HUMAN			YES	CCDC132,missense_variant,p.Gln100His,ENST00000544910,NM_001257998.1;CCDC132,missense_variant,p.Gln130His,ENST00000305866,NM_017667.3;CCDC132,missense_variant,p.Gln130His,ENST00000251739,NM_024553.2;CCDC132,missense_variant,p.Gln129His,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,;							MODERATE	390/2895	Q130H	CC132_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000307666		CCDS43617.1			1	
WASF1	0	LGGM	GRCh37	6	110423300	110423300	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	28	10	.	.	ENST00000392589.1:c.1013C>A	p.Ser338Tyr	p.S338Y	ENST00000392589	NM_003931.2	338	tCc/tAc	0	1		UPI000003AC31	0	NA	ENST00000359451		ENSG00000112290	12732		38	0.695		HGNC	p.S338Y		WASF1		SNV							ENST00000392589	protein_coding	getma.org/?cm=var&var=hg19,6,110423300,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12902		S/Y		T	neutral	1705/3075		getma.org/?cm=msa&ty=f&p=WASF1_HUMAN&rb=201&re=400&var=S338Y	tolerated(0.35)	Q5SZK5_HUMAN,Q5SZK4_HUMAN,Q5SZK3_HUMAN				WASF1,missense_variant,p.Ser338Tyr,ENST00000392589,NM_003931.2;WASF1,missense_variant,p.Ser338Tyr,ENST00000392588,NM_001024934.1;WASF1,missense_variant,p.Ser338Tyr,ENST00000359451,NM_001024935.1;WASF1,missense_variant,p.Ser338Tyr,ENST00000392586,;WASF1,missense_variant,p.Ser338Tyr,ENST00000392587,NM_001024936.1;WASF1,downstream_gene_variant,,ENST00000444391,;							MODERATE	1013/1680	S338Y	WASF1_HUMAN			Transcript		unknown(0)	.	ENSP00000352425		CCDS5080.1			1	
ULK4	0	LGGM	GRCh37	3	41504742	41504742	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	48	10	.	.	ENST00000301831.4:c.3229C>A	p.Leu1077Ile	p.L1077I	ENST00000301831	NM_017886.2	1077	Ctt/Att	0	1	1	UPI0000E8267C	0	NA	ENST00000301831		ENSG00000168038	15784		58	1.59		HGNC	p.L1077I		ULK4		SNV							ENST00000301831	protein_coding	getma.org/?cm=var&var=hg19,3,41504742,G,T&fts=all		hmmpanther:PTHR22983,hmmpanther:PTHR22983:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		L/I		T	low	3692/4613		getma.org/?cm=msa&ty=f&p=ULK4_HUMAN&rb=352&re=1250&var=L1077I	tolerated(0.1)	B3KSE5_HUMAN			YES	ULK4,missense_variant,p.Leu1077Ile,ENST00000301831,NM_017886.2;							MODERATE	3229/3828	L1077I	ULK4_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000301831		CCDS43071.1			1	
CPNE4	0	LGGM	GRCh37	3	131261509	131261509	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	39	10	.	.	ENST00000512055.1:c.1431C>T	p.Phe477=	p.F477=	ENST00000512055		477	ttC/ttT	0	1		UPI0000127C14	0		ENST00000429747		ENSG00000196353	2317		49			HGNC	p.F477F		CPNE4		SNV							ENST00000429747	protein_coding			hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		F		A		1866/2564				Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN				CPNE4,synonymous_variant,p.=,ENST00000512055,;CPNE4,synonymous_variant,p.=,ENST00000429747,NM_130808.1;CPNE4,synonymous_variant,p.=,ENST00000511604,;CPNE4,synonymous_variant,p.=,ENST00000512332,;CPNE4,synonymous_variant,p.=,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,;							LOW	1431/1674		CPNE4_HUMAN			Transcript			.	ENSP00000411904		CCDS3072.1			1	
CREBBP	0	LGGM	GRCh37	16	3843610	3843610	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	21	10	.	.	ENST00000262367.5:c.993A>T	p.Ser331=	p.S331=	ENST00000262367	NM_004380.2	331	tcA/tcT	0	1	1	UPI0000000620	0		ENST00000262367		ENSG00000005339	2348		31			HGNC	p.S331S		CREBBP		SNV			1				ENST00000382070	protein_coding			hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		S		A		1803/10803				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			YES	CREBBP,synonymous_variant,p.=,ENST00000262367,NM_004380.2;CREBBP,synonymous_variant,p.=,ENST00000382070,NM_001079846.1;							LOW	993/7329		CBP_HUMAN			Transcript			.	ENSP00000262367		CCDS10509.1			1	
PIK3C2A	0	LGGM	GRCh37	11	17190627	17190627	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	22	11	.	.	ENST00000265970.7:c.662C>G	p.Thr221Ser	p.T221S	ENST00000265970	NM_002645.2	221	aCt/aGt	0	1	1	UPI000013D6B3	0	NA	ENST00000265970		ENSG00000011405	8971		33	0		HGNC	p.T221S		PIK3C2A		SNV							ENST00000265970	protein_coding	getma.org/?cm=var&var=hg19,11,17190627,G,C&fts=all		hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048		T/S		C	neutral	662/8227		getma.org/?cm=msa&ty=f&p=P3C2A_HUMAN&rb=70&re=354&var=T221S	deleterious_low_confidence(0.01)	L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN			YES	PIK3C2A,missense_variant,p.Thr221Ser,ENST00000265970,NM_002645.2;PIK3C2A,intron_variant,,ENST00000540361,;PIK3C2A,downstream_gene_variant,,ENST00000532035,;PIK3C2A,intron_variant,,ENST00000531428,;PIK3C2A,missense_variant,p.Thr221Ser,ENST00000533645,;							MODERATE	662/5061	T221S	P3C2A_HUMAN			Transcript		benign(0)	.	ENSP00000265970		CCDS7824.1			1	
CDKL2	0	LGGM	GRCh37	4	76523358	76523358	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	20	11	.	.	ENST00000429927.2:c.923C>T	p.Ala308Val	p.A308V	ENST00000429927	NM_003948.3	308	gCc/gTc	0	1	1	UPI000006D070	0	NA	ENST00000429927		ENSG00000138769	1782		31	0.975		HGNC	p.A308V		CDKL2		SNV							ENST00000429927	protein_coding	getma.org/?cm=var&var=hg19,4,76523358,G,A&fts=all		hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF160,Gene3D:1.10.510.10		A/V		A	low	1627/3383		getma.org/?cm=msa&ty=f&p=CDKL2_HUMAN&rb=288&re=487&var=A308V	tolerated(0.06)				YES	CDKL2,missense_variant,p.Ala308Val,ENST00000429927,NM_003948.3;CDKL2,missense_variant,p.Ala308Val,ENST00000307465,;CDKL2,3_prime_UTR_variant,,ENST00000506234,;CDKL2,upstream_gene_variant,,ENST00000515793,;							MODERATE	923/1482	A308V	CDKL2_HUMAN			Transcript		benign(0.008)	.	ENSP00000412365		CCDS3570.1			1	
OR6A2	0	LGGM	GRCh37	11	6816322	6816322	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	84	11	.	.	ENST00000332601.3:c.618C>A	p.Ile206=	p.I206=	ENST00000332601	NM_003696.2	206	atC/atA	0	1	1	UPI0000061E92	0		ENST00000332601		ENSG00000184933	15301		95			HGNC	p.I206I		OR6A2		SNV							ENST00000332601	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF234,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I		T		807/1373							YES	OR6A2,synonymous_variant,p.=,ENST00000332601,NM_003696.2;							LOW	618/984		OR6A2_HUMAN			Transcript			.	ENSP00000330384		CCDS7772.1			1	
TERF2	0	LGGM	GRCh37	16	69404383	69404383	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	1	11	.	.	ENST00000603068.1:c.714+3G>A		p.X238_splice	ENST00000603068				0	1		UPI0000EE5A05	0		ENST00000254942		ENSG00000132604	11729		12			HGNC	p.V239V		TERF2		SNV							ENST00000567296	protein_coding							T		-/2983								TERF2,splice_region_variant,,ENST00000254942,NM_005652.4;TERF2,splice_region_variant,,ENST00000603068,;TERF2,splice_region_variant,,ENST00000569584,;TERF2,splice_region_variant,,ENST00000566750,;TERF2,splice_region_variant,,ENST00000566257,;TERF2,synonymous_variant,p.=,ENST00000567296,;TERF2,intron_variant,,ENST00000569542,;TERF2,downstream_gene_variant,,ENST00000567841,;TERF2,splice_region_variant,,ENST00000569611,;TERF2,splice_region_variant,,ENST00000564982,;TERF2,downstream_gene_variant,,ENST00000569280,;TERF2,upstream_gene_variant,,ENST00000567130,;							LOW	-/1629		TERF2_HUMAN			Transcript			.	ENSP00000254942		CCDS10879.2			1	
IDO2	0	LGGM	GRCh37	8	39840221	39840221	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	34	11	.	.	ENST00000502986.2:c.405G>A	p.Leu135=	p.L135=	ENST00000502986	NM_194294.2	135	ttG/ttA	0	1		UPI0001502AB1	0		ENST00000389060		ENSG00000188676	27269		45			HGNC	p.L122L		IDO2		SNV							ENST00000389060	protein_coding			Pfam_domain:PF01231,Superfamily_domains:SSF140959		L		A		366/1227								IDO2,synonymous_variant,p.=,ENST00000502986,NM_194294.2;IDO2,synonymous_variant,p.=,ENST00000389060,;RP11-44K6.3,intron_variant,,ENST00000517623,;IDO2,non_coding_transcript_exon_variant,,ENST00000343295,;							LOW	366/1224		I23O2_HUMAN			Transcript			.	ENSP00000426447					1	
NEBL	0	LGGM	GRCh37	10	21158754	21158754	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	24	11	.	.	ENST00000377122.4:c.497A>T	p.Asp166Val	p.D166V	ENST00000377122	NM_006393.2	166	gAc/gTc	0	1	1	UPI000012FEE8	0	NA	ENST00000377122		ENSG00000078114	16932		35	2.135		HGNC	p.D166V		NEBL		SNV							ENST00000377119	protein_coding	getma.org/?cm=var&var=hg19,10,21158754,T,A&fts=all		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,SMART_domains:SM00227		D/V		A	medium	894/9216		getma.org/?cm=msa&ty=f&p=NEBL_HUMAN&rb=64&re=211&var=D166V	deleterious(0)	B0YJ47_HUMAN			YES	NEBL,missense_variant,p.Asp166Val,ENST00000377122,NM_006393.2;NEBL,missense_variant,p.Asp166Val,ENST00000377119,;NEBL,intron_variant,,ENST00000417816,NM_001173484.1,NM_213569.2;NEBL,intron_variant,,ENST00000377159,;							MODERATE	497/3045	D166V	NEBL_HUMAN			Transcript		benign(0.394)	.	ENSP00000366326		CCDS7134.1			1	
GRM3	0	LGGM	GRCh37	7	86415725	86415725	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	43	11	.	.	ENST00000361669.2:c.617G>A	p.Arg206His	p.R206H	ENST00000361669	NM_000840.2	206	cGc/cAc	0	1	1	UPI0000153EFC	0	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=R206H	ENST00000361669		ENSG00000198822	4595		54	1.88		HGNC	p.R78H		GRM3		SNV							ENST00000536043	protein_coding	getma.org/?cm=var&var=hg19,7,86415725,G,A&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,Superfamily_domains:SSF53822		R/H		A	low	1716/4268		getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=R206H	tolerated(0.16)	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN			YES	GRM3,missense_variant,p.Arg206His,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Arg78His,ENST00000536043,;GRM3,missense_variant,p.Arg206His,ENST00000439827,;GRM3,missense_variant,p.Arg204His,ENST00000394720,;GRM3,missense_variant,p.Arg78His,ENST00000454217,;GRM3,intron_variant,,ENST00000546348,;AC005009.2,non_coding_transcript_exon_variant,,ENST00000418031,;AC005009.2,intron_variant,,ENST00000452471,;							MODERATE	617/2640	R206H	GRM3_HUMAN			Transcript		benign(0.034)	.	ENSP00000355316		CCDS5600.1			1	
CBLB	0	LGGM	GRCh37	3	105378035	105378035	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	38	11	.	.	ENST00000264122.4:c.2728C>T	p.Pro910Ser	p.P910S	ENST00000264122	NM_170662.3	910	Ccg/Tcg	0	1	1	UPI00001AE89F	0	NA	ENST00000264122		ENSG00000114423	1542		49	0.895		HGNC	p.P888S	COSM3584850,COSM3584851	CBLB		SNV						1,1	ENST00000394027	protein_coding	getma.org/?cm=var&var=hg19,3,105378035,G,A&fts=all		hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3,Low_complexity_(Seg):seg		P/S		A	low	3050/6780		getma.org/?cm=msa&ty=f&p=CBLB_HUMAN&rb=819&re=930&var=P910S	deleterious_low_confidence(0)	C9JU85_HUMAN,B5MC15_HUMAN			YES	CBLB,missense_variant,p.Pro910Ser,ENST00000264122,NM_170662.3;CBLB,missense_variant,p.Pro249Ser,ENST00000394030,;CBLB,missense_variant,p.Pro888Ser,ENST00000394027,;CBLB,missense_variant,p.Pro125Ser,ENST00000407712,;CBLB,non_coding_transcript_exon_variant,,ENST00000476370,;					1,1		MODERATE	2728/2949	P910S	CBLB_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264122		CCDS2948.1			1	
STRN4	0	LGGM	GRCh37	19	47232004	47232004	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	26	11	.	.	ENST00000391910.3:c.910G>A	p.Glu304Lys	p.E304K	ENST00000391910		304	Gaa/Aaa	0	1		UPI000006E0E6	0	NA	ENST00000263280		ENSG00000090372	15721		37	1.39		HGNC	p.E304K		STRN4		SNV							ENST00000263280	protein_coding	getma.org/?cm=var&var=hg19,19,47232004,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF1		E/K		T	low	960/3210		getma.org/?cm=msa&ty=f&p=STRN4_HUMAN&rb=198&re=397&var=E304K	tolerated(0.7)	M0QYS2_HUMAN,M0R2A7_HUMAN,M0R0P4_HUMAN,M0QXN2_HUMAN,F5GYK2_HUMAN,B3KPF6_HUMAN				STRN4,missense_variant,p.Glu304Lys,ENST00000391910,;STRN4,missense_variant,p.Glu304Lys,ENST00000263280,NM_013403.2,NM_001039877.1;STRN4,missense_variant,p.Glu185Lys,ENST00000539396,;STRN4,upstream_gene_variant,,ENST00000594287,;STRN4,downstream_gene_variant,,ENST00000593979,;STRN4,downstream_gene_variant,,ENST00000597021,;STRN4,downstream_gene_variant,,ENST00000597063,;STRN4,downstream_gene_variant,,ENST00000596012,;CTB-174O21.2,non_coding_transcript_exon_variant,,ENST00000600716,;STRN4,non_coding_transcript_exon_variant,,ENST00000602397,;STRN4,non_coding_transcript_exon_variant,,ENST00000596016,;STRN4,upstream_gene_variant,,ENST00000594357,;STRN4,upstream_gene_variant,,ENST00000602223,;STRN4,missense_variant,p.Glu185Lys,ENST00000435164,;STRN4,missense_variant,p.Glu154Lys,ENST00000600358,;STRN4,non_coding_transcript_exon_variant,,ENST00000595357,;STRN4,non_coding_transcript_exon_variant,,ENST00000594847,;STRN4,non_coding_transcript_exon_variant,,ENST00000599231,;STRN4,upstream_gene_variant,,ENST00000594581,;STRN4,upstream_gene_variant,,ENST00000601631,;STRN4,downstream_gene_variant,,ENST00000594704,;STRN4,upstream_gene_variant,,ENST00000598074,;							MODERATE	910/2262	E304K	STRN4_HUMAN			Transcript		benign(0.152)	.	ENSP00000263280		CCDS12690.1			1	
CDC23	0	LGGM	GRCh37	5	137528291	137528291	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	28	12	.	.	ENST00000394886.2:c.1068A>T	p.Arg356Ser	p.R356S	ENST00000394886	NM_004661.3	356	agA/agT	0	1	1	UPI000020C69D	0	NA	ENST00000394886		ENSG00000094880	1724		40	4.12		HGNC	p.R356S		CDC23		SNV							ENST00000394886	protein_coding	getma.org/?cm=var&var=hg19,5,137528291,T,A&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF00515,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF10,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452		R/S		A	high	1099/3153		getma.org/?cm=msa&ty=f&p=CDC23_HUMAN&rb=331&re=364&var=R356S	deleterious(0)				YES	CDC23,missense_variant,p.Arg356Ser,ENST00000394886,NM_004661.3;KIF20A,downstream_gene_variant,,ENST00000394894,NM_005733.2;KIF20A,downstream_gene_variant,,ENST00000508792,;CDC23,non_coding_transcript_exon_variant,,ENST00000471692,;CDC23,upstream_gene_variant,,ENST00000464806,;CDC23,upstream_gene_variant,,ENST00000475021,;							MODERATE	1068/1794	R356S	CDC23_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000378350		CCDS4200.2			1	
CDH10	0	LGGM	GRCh37	5	24488112	24488112	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	57	12	.	.	ENST00000264463.4:c.2027G>A	p.Arg676Lys	p.R676K	ENST00000264463	NM_006727.3	676	aGg/aAg	0	1	1	UPI0000167B7B	0	NA	ENST00000264463		ENSG00000040731	1749		69	2.51		HGNC	p.R676K		CDH10		SNV							ENST00000264463	protein_coding	getma.org/?cm=var&var=hg19,5,24488112,C,T&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293		R/K		T	medium	2535/3438		getma.org/?cm=msa&ty=f&p=CAD10_HUMAN&rb=635&re=782&var=R676K	deleterious(0.04)				YES	CDH10,missense_variant,p.Arg676Lys,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;							MODERATE	2027/2367	R676K	CAD10_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000264463		CCDS3892.1			1	
TCF7L1	0	LGGM	GRCh37	2	85536374	85536374	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	33	12	.	.	ENST00000282111.3:c.1556C>G	p.Ser519Cys	p.S519C	ENST00000282111	NM_031283.2	519	tCt/tGt	0	1	1	UPI0000136846	0	NA	ENST00000282111		ENSG00000152284	11640		45	0.69		HGNC	p.S519C		TCF7L1		SNV							ENST00000282111	protein_coding	getma.org/?cm=var&var=hg19,2,85536374,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25		S/C		G	neutral	1831/2968		getma.org/?cm=msa&ty=f&p=TF7L1_HUMAN&rb=415&re=588&var=S519C	tolerated_low_confidence(0.09)	Q53T87_HUMAN,C9JPE3_HUMAN			YES	TCF7L1,missense_variant,p.Ser519Cys,ENST00000282111,NM_031283.2;TCF7L1,downstream_gene_variant,,ENST00000490744,;							MODERATE	1556/1767	S519C	TF7L1_HUMAN			Transcript		possibly_damaging(0.615)	.	ENSP00000282111		CCDS1971.1			1	
OR8U1	0	LGGM	GRCh37	11	56143177	56143177	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	8	12	.	.	ENST00000302270.1:c.78C>A	p.Pro26=	p.P26=	ENST00000302270	NM_001005204.1	26	ccC/ccA	0	1	1	UPI0000061EEF	0		ENST00000302270		ENSG00000172199	19611		20			HGNC	p.P26P		OR8U1		SNV							ENST00000302270	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF107,Superfamily_domains:SSF81321		P		A		78/930							YES	OR8U1,synonymous_variant,p.=,ENST00000302270,NM_001005204.1;							LOW	78/930		OR8U1_HUMAN			Transcript			.	ENSP00000304188		CCDS41647.1			1	
ZBTB26	0	LGGM	GRCh37	9	125682150	125682150	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	23	12	.	.	ENST00000373656.3:c.64A>T	p.Lys22Ter	p.K22*	ENST00000373656	NM_020924.2	22	Aaa/Taa	0	1		UPI0000126991	0	NA	ENST00000373654		ENSG00000171448	23383		35	0		HGNC	p.K22X		ZBTB26		SNV							ENST00000373656	protein_coding	getma.org/?cm=var&var=hg19,9,125682150,T,A&fts=all		hmmpanther:PTHR23228:SF125,hmmpanther:PTHR23228,Gene3D:3.30.710.10,Superfamily_domains:SSF54695		K/*		A	NA	276/2047		NA						ZBTB26,stop_gained,p.Lys22Ter,ENST00000373656,NM_020924.2;ZBTB26,stop_gained,p.Lys22Ter,ENST00000373654,;							HIGH	64/1326	K22*	ZBT26_HUMAN			Transcript			.	ENSP00000362758		CCDS6847.1			1	
OR8U1	0	LGGM	GRCh37	11	56143178	56143178	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	8	12	.	.	ENST00000302270.1:c.79C>T	p.Leu27Phe	p.L27F	ENST00000302270	NM_001005204.1	27	Ctc/Ttc	0	1	1	UPI0000061EEF	0	getma.org/pdb.php?prot=OR8U9_HUMAN&from=1&to=138&var=L27F	ENST00000302270		ENSG00000172199	19611		20	2.165		HGNC	p.L27F		OR8U1		SNV							ENST00000302270	protein_coding	getma.org/?cm=var&var=hg19,11,56143178,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF107,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/F		T	medium	79/930		getma.org/?cm=msa&ty=f&p=OR8U9_HUMAN&rb=1&re=138&var=L27F	tolerated(0.08)				YES	OR8U1,missense_variant,p.Leu27Phe,ENST00000302270,NM_001005204.1;							MODERATE	79/930	L27F	OR8U1_HUMAN			Transcript		benign(0.033)	.	ENSP00000304188		CCDS41647.1			1	
YIPF7	0	LGGM	GRCh37	4	44653570	44653570	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	19	13	.	.	ENST00000332990.5:c.71+1G>A		p.X24_splice	ENST00000332990	NM_182592.2			0	1	1	UPI00015347BF	0		ENST00000332990		ENSG00000177752	26825		32			HGNC	-		YIPF7		SNV							ENST00000332990	protein_coding							T		-/937							YES	YIPF7,splice_donor_variant,,ENST00000415895,;YIPF7,splice_donor_variant,,ENST00000332990,NM_182592.2;YIPF7,intron_variant,,ENST00000508947,;YIPF7,splice_donor_variant,,ENST00000510035,;YIPF7,splice_donor_variant,,ENST00000502794,;							HIGH	71/843		YIPF7_HUMAN			Transcript			.	ENSP00000332772		CCDS54766.1			1	
EIF4G3	0	LGGM	GRCh37	1	21177967	21177967	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	3	13	.	.	ENST00000602326.1:c.3406G>T	p.Gly1136Ter	p.G1136*	ENST00000602326	NM_001198802.1	1136	Gga/Tga	0	1		UPI0000070825	0	NA	ENST00000264211		ENSG00000075151	3298		16	0		HGNC	p.G620X		EIF4G3		SNV							ENST00000537738	protein_coding	getma.org/?cm=var&var=hg19,1,21177967,C,A&fts=all		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		G/*		A	NA	3583/5802		NA		F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,stop_gained,p.Gly1136Ter,ENST00000602326,NM_001198802.1;EIF4G3,stop_gained,p.Gly1130Ter,ENST00000400422,NM_001198801.1;EIF4G3,stop_gained,p.Gly1130Ter,ENST00000264211,NM_003760.4;EIF4G3,stop_gained,p.Gly1136Ter,ENST00000374937,;EIF4G3,stop_gained,p.Gly850Ter,ENST00000374935,;EIF4G3,stop_gained,p.Gly734Ter,ENST00000536266,;EIF4G3,stop_gained,p.Gly620Ter,ENST00000537738,;EIF4G3,upstream_gene_variant,,ENST00000435383,;							HIGH	3388/4758	G1130*	IF4G3_HUMAN			Transcript			.	ENSP00000264211		CCDS214.1			1	
UBE2I	0	LGGM	GRCh37	16	1370532	1370532	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	32	13	.	.	ENST00000568106.1:n.1831G>T		*611*	ENST00000568106				0	1		UPI00000010F8	0		ENST00000325437		ENSG00000103275	12485		45			HGNC	p.L143M		UBE2I		SNV							ENST00000402301	protein_coding							A		-/2832				H3BRD1_HUMAN,H3BQQ9_HUMAN				UBE2I,missense_variant,p.Leu143Met,ENST00000402301,;UBE2I,intron_variant,,ENST00000355803,NM_194260.2;UBE2I,intron_variant,,ENST00000397515,NM_194259.2;UBE2I,intron_variant,,ENST00000397514,NM_003345.4;UBE2I,intron_variant,,ENST00000325437,NM_194261.2;UBE2I,intron_variant,,ENST00000406620,;UBE2I,intron_variant,,ENST00000403747,;UBE2I,intron_variant,,ENST00000566587,;UBE2I,downstream_gene_variant,,ENST00000567074,;LA16c-358B7.3,non_coding_transcript_exon_variant,,ENST00000568106,;LA16c-358B7.3,intron_variant,,ENST00000567829,;UBE2I,intron_variant,,ENST00000568288,;UBE2I,downstream_gene_variant,,ENST00000568209,;UBE2I,intron_variant,,ENST00000568989,;UBE2I,downstream_gene_variant,,ENST00000566159,;UBE2I,downstream_gene_variant,,ENST00000473256,;UBE2I,downstream_gene_variant,,ENST00000564143,;UBE2I,downstream_gene_variant,,ENST00000566775,;							MODIFIER	-/477		UBC9_HUMAN			Transcript			.	ENSP00000324897		CCDS10433.1			1	
SPECC1L	0	LGGM	GRCh37	22	24709317	24709317	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	27	13	.	.	ENST00000314328.9:c.190G>A	p.Gly64Arg	p.G64R	ENST00000314328	NM_015330.4	64	Gga/Aga	0	1	1	UPI00001B64E9	0	NA	ENST00000314328		ENSG00000100014	29022		40	1.7		HGNC	p.G64R	rs548017612	SPECC1L	0.000484	SNV			1				ENST00000541492	protein_coding	getma.org/?cm=var&var=hg19,22,24709317,G,A&fts=all	A:0	Low_complexity_(Seg):seg,hmmpanther:PTHR23167:SF18,hmmpanther:PTHR23167		G/R		A	low	475/6756	7.49E-05	getma.org/?cm=msa&ty=f&p=CYTSA_HUMAN&rb=1&re=886&var=G64R	deleterious(0.04)	C9JLY8_HUMAN,C9J8U1_HUMAN	A:0	A:0	YES	SPECC1L,missense_variant,p.Gly64Arg,ENST00000314328,NM_015330.4,NM_001254733.1;SPECC1L,missense_variant,p.Gly64Arg,ENST00000437398,NM_001145468.3,NM_001254732.2;SPECC1L,missense_variant,p.Gly64Arg,ENST00000541492,;SPECC1L,missense_variant,p.Gly64Arg,ENST00000421374,;SPECC1L,missense_variant,p.Gly3Arg,ENST00000440893,;SPECC1L,non_coding_transcript_exon_variant,,ENST00000416735,;SPECC1L-ADORA2A,missense_variant,p.Gly64Arg,ENST00000358654,;		A:0.0002					MODERATE	190/3354	G64R	CYTSA_HUMAN		A:0	Transcript		benign(0.317)	common_variant	ENSP00000325785	0.000107	CCDS33619.1		A:0.001	1	
DGKD	0	LGGM	GRCh37	2	234365967	234365967	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	13	13	.	.	ENST00000264057.2:c.2573A>G	p.Glu858Gly	p.E858G	ENST00000264057	NM_152879.2	858	gAa/gGa	0	1	1	UPI000013D4AF	0	NA	ENST00000264057		ENSG00000077044	2851		26	0.57		HGNC	p.E814G		DGKD		SNV							ENST00000409813	protein_coding	getma.org/?cm=var&var=hg19,2,234365967,A,G&fts=all		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF30,Pfam_domain:PF00609,SMART_domains:SM00045,Superfamily_domains:SSF111331		E/G		G	neutral	2585/6297		getma.org/?cm=msa&ty=f&p=DGKD_HUMAN&rb=763&re=920&var=E858G	tolerated(0.06)	Q53SV4_HUMAN,Q53SE4_HUMAN			YES	DGKD,missense_variant,p.Glu858Gly,ENST00000264057,NM_152879.2;DGKD,missense_variant,p.Glu814Gly,ENST00000409813,NM_003648.2;DGKD,3_prime_UTR_variant,,ENST00000430834,;DGKD,non_coding_transcript_exon_variant,,ENST00000490764,;DGKD,upstream_gene_variant,,ENST00000471764,;							MODERATE	2573/3645	E858G	DGKD_HUMAN			Transcript		possibly_damaging(0.59)	.	ENSP00000264057		CCDS2504.1			1	
FAT4	0	LGGM	GRCh37	4	126371490	126371490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	27	13	.	.	ENST00000394329.3:c.9319A>G	p.Ile3107Val	p.I3107V	ENST00000394329	NM_024582.4	3107	Att/Gtt	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=3094&to=3185&var=I3107V	ENST00000394329		ENSG00000196159	23109	8.65E-05	40	-0.87		HGNC	p.I3107V	rs754317822	FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126371490,A,G&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		I/V		G	neutral	9332/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=3094&re=3185&var=I3107V		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Ile3107Val,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Ile1405Val,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;							MODERATE	9319/14946	I3107V	FAT4_HUMAN			Transcript		benign(0.004)	.	ENSP00000377862	8.24E-06	CCDS3732.3			1	
TIAM1	0	LGGM	GRCh37	21	32624064	32624064	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	13	13	.	.	ENST00000286827.3:c.1405C>G	p.Leu469Val	p.L469V	ENST00000286827	NM_003253.2	469	Ctg/Gtg	0	1	1	UPI000013DE6F	0	getma.org/pdb.php?prot=TIAM1_HUMAN&from=434&to=547&var=L469V	ENST00000286827		ENSG00000156299	11805		26	1.585		HGNC	p.L469V		TIAM1		SNV							ENST00000541036	protein_coding	getma.org/?cm=var&var=hg19,21,32624064,G,C&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826,PROSITE_profiles:PS50003		L/V		C	low	1877/7200		getma.org/?cm=msa&ty=f&p=TIAM1_HUMAN&rb=434&re=547&var=L469V	deleterious(0)	C9JMB5_HUMAN			YES	TIAM1,missense_variant,p.Leu469Val,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Leu469Val,ENST00000541036,;TIAM1,non_coding_transcript_exon_variant,,ENST00000469412,;							MODERATE	1405/4776	L469V	TIAM1_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000286827		CCDS13609.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37506802	37506802	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	50	13	.	.	ENST00000361713.1:c.3095A>T	p.Asn1032Ile	p.N1032I	ENST00000361713	NM_052997.2	1032	aAt/aTt	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		63	1.92		HGNC	p.N1032I		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37506802,A,T&fts=all				N/I		T	medium	3194/4405		getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=281&re=1396&var=N1088I	deleterious(0)	R4GNA2_HUMAN			YES	ANKRD30A,missense_variant,p.Asn1151Ile,ENST00000374660,;ANKRD30A,missense_variant,p.Asn1032Ile,ENST00000602533,;ANKRD30A,missense_variant,p.Asn1032Ile,ENST00000361713,NM_052997.2;							MODERATE	3095/4026	N1088I	AN30A_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000354432		CCDS7193.1			1	
ARGFX	0	LGGM	GRCh37	3	121305045	121305045	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	60	13	.	.	ENST00000334384.3:c.546G>T	p.Gln182His	p.Q182H	ENST00000334384	NM_001012659.1	182	caG/caT	0	1	1	UPI00004ED62C	0	NA	ENST00000334384		ENSG00000186103	30146		73	0.805		HGNC	p.Q182H		ARGFX		SNV							ENST00000334384	protein_coding	getma.org/?cm=var&var=hg19,3,121305045,G,T&fts=all		hmmpanther:PTHR24329:SF134,hmmpanther:PTHR24329		Q/H		T	low	556/992		getma.org/?cm=msa&ty=f&p=ARGFX_HUMAN&rb=136&re=188&var=Q182H	tolerated(0.06)				YES	ARGFX,missense_variant,p.Gln182His,ENST00000334384,NM_001012659.1;							MODERATE	546/948	Q182H	ARGFX_HUMAN			Transcript		benign(0.003)	.	ENSP00000335578		CCDS33834.1			1	
EIF4G3	0	LGGM	GRCh37	1	21177966	21177966	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	3	13	.	.	ENST00000602326.1:c.3407G>T	p.Gly1136Val	p.G1136V	ENST00000602326	NM_001198802.1	1136	gGa/gTa	0	1		UPI0000070825	0	NA	ENST00000264211		ENSG00000075151	3298		16	1.545		HGNC	p.G620V		EIF4G3		SNV							ENST00000537738	protein_coding	getma.org/?cm=var&var=hg19,1,21177966,C,A&fts=all		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		G/V		A	low	3584/5802		getma.org/?cm=msa&ty=f&p=IF4G3_HUMAN&rb=984&re=1183&var=G1130V	deleterious(0)	F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,missense_variant,p.Gly1136Val,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Gly1130Val,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Gly1130Val,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Gly1136Val,ENST00000374937,;EIF4G3,missense_variant,p.Gly850Val,ENST00000374935,;EIF4G3,missense_variant,p.Gly734Val,ENST00000536266,;EIF4G3,missense_variant,p.Gly620Val,ENST00000537738,;EIF4G3,upstream_gene_variant,,ENST00000435383,;							MODERATE	3389/4758	G1130V	IF4G3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264211		CCDS214.1			1	
WDR17	0	LGGM	GRCh37	4	177100661	177100661	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	35	14	.	.	ENST00000280190.4:c.3900T>A	p.Asp1300Glu	p.D1300E	ENST00000280190		1300	gaT/gaA	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		49	1.59		HGNC	p.D1276E		WDR17		SNV							ENST00000507824	protein_coding	getma.org/?cm=var&var=hg19,4,177100661,T,A&fts=all				D/E		A	low	4056/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=775&re=1320&var=D1300E	tolerated(0.44)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Asp1276Glu,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Asp535Glu,ENST00000443118,;WDR17,missense_variant,p.Asp1300Glu,ENST00000280190,;WDR17,missense_variant,p.Asp1261Glu,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Asp1275Glu,ENST00000507824,;WDR17,downstream_gene_variant,,ENST00000508773,;							MODERATE	3900/3969	D1300E	WDR17_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000280190		CCDS3825.1			1	
PANX2	0	LGGM	GRCh37	22	50616053	50616053	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	29	14	.	.	ENST00000395842.2:c.912C>A	p.Ile304=	p.I304=	ENST00000395842	NM_052839.3	304	atC/atA	0	1	1	UPI0000E070D3	0		ENST00000395842		ENSG00000073150	8600		43			HGNC	p.I304I		PANX2		SNV							ENST00000159647	protein_coding			PROSITE_profiles:PS51013,hmmpanther:PTHR15759,hmmpanther:PTHR15759:SF1,Transmembrane_helices:TMhelix		I		A		912/3051				Q6ICA1_HUMAN,Q495U3_HUMAN,B3KTT7_HUMAN			YES	PANX2,synonymous_variant,p.=,ENST00000395842,NM_052839.3;PANX2,synonymous_variant,p.=,ENST00000159647,NM_001160300.1;PANX2,3_prime_UTR_variant,,ENST00000402472,;							LOW	912/2034		PANX2_HUMAN			Transcript			.	ENSP00000379183		CCDS14085.2			1	
ISL1	0	LGGM	GRCh37	5	50689420	50689420	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	31	15	.	.	ENST00000230658.7:c.1026G>T	p.Met342Ile	p.M342I	ENST00000230658	NM_002202.2	342	atG/atT	0	1	1	UPI0000023E3A	0	NA	ENST00000230658		ENSG00000016082	6132		46	2.3		HGNC	p.M319I		ISL1		SNV			1				ENST00000511384	protein_coding	getma.org/?cm=var&var=hg19,5,50689420,G,T&fts=all		hmmpanther:PTHR24204		M/I		T	medium	1611/2755		getma.org/?cm=msa&ty=f&p=ISL1_HUMAN&rb=239&re=349&var=M342I	deleterious_low_confidence(0.01)				YES	ISL1,missense_variant,p.Met342Ile,ENST00000230658,NM_002202.2;ISL1,missense_variant,p.Met319Ile,ENST00000511384,;ISL1,downstream_gene_variant,,ENST00000505475,;							MODERATE	1026/1050	M342I	ISL1_HUMAN			Transcript		benign(0.184)	.	ENSP00000230658		CCDS43314.1			1	
LRPPRC	0	LGGM	GRCh37	2	44209481	44209481	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	76	15	.	.	ENST00000260665.7:c.242A>G	p.Asn81Ser	p.N81S	ENST00000260665	NM_133259.3	81	aAt/aGt	0	1	1	UPI000019B4D2	0	NA	ENST00000260665		ENSG00000138095	15714	0.000259	91	-0.83		HGNC	p.N81S	rs748138102	LRPPRC	0.000666	SNV			1	0.000198			ENST00000409659	protein_coding	getma.org/?cm=var&var=hg19,2,44209481,T,C&fts=all		hmmpanther:PTHR24015,hmmpanther:PTHR24015:SF0		N/S		C	neutral	300/6335	4.50E-05	getma.org/?cm=msa&ty=f&p=LPPRC_HUMAN&rb=1&re=197&var=N81S	tolerated(1)	E5KNY5_HUMAN			YES	LRPPRC,missense_variant,p.Asn81Ser,ENST00000260665,NM_133259.3;LRPPRC,missense_variant,p.Asn81Ser,ENST00000409946,;LRPPRC,missense_variant,p.Asn81Ser,ENST00000409659,;LRPPRC,missense_variant,p.Asn55Ser,ENST00000447246,;	0.000116						MODERATE	242/4185	N81S	LPPRC_HUMAN			Transcript		benign(0.002)	common_variant	ENSP00000260665	0.000165	CCDS33189.1			1	
PCCA	0	LGGM	GRCh37	13	100925572	100925572	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	18	15	.	.	ENST00000376285.1:c.1037A>T	p.Tyr346Phe	p.Y346F	ENST00000376285	NM_000282.3	346	tAt/tTt	0	1	1	UPI0000070089	0	getma.org/pdb.php?prot=PCCA_HUMAN&from=176&to=385&var=Y346F	ENST00000376285		ENSG00000175198	8653		33	2.09		HGNC	p.Y346F		PCCA		SNV			1				ENST00000376279	protein_coding	getma.org/?cm=var&var=hg19,13,100925572,A,T&fts=all		PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866:SF33,hmmpanther:PTHR18866,Gene3D:3.30.470.20,Pfam_domain:PF02786,Superfamily_domains:SSF56059		Y/F		T	medium	1075/2491		getma.org/?cm=msa&ty=f&p=PCCA_HUMAN&rb=176&re=385&var=Y346F	deleterious(0.04)				YES	PCCA,missense_variant,p.Tyr346Phe,ENST00000376285,NM_000282.3;PCCA,missense_variant,p.Tyr320Phe,ENST00000376286,NM_001127692.2;PCCA,missense_variant,p.Tyr346Phe,ENST00000376279,NM_001178004.1;							MODERATE	1037/2187	Y346F	PCCA_HUMAN			Transcript		possibly_damaging(0.512)	.	ENSP00000365462		CCDS9496.2			1	
CYFIP1	0	LGGM	GRCh37	15	22993085	22993085	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	22	15	.	.	ENST00000313077.7:c.2972C>T	p.Thr991Met	p.T991M	ENST00000313077	NM_014608.2	991	aCg/aTg	0	1	1	UPI0000163A89	0	getma.org/pdb.php?prot=CYFP1_HUMAN&from=385&to=1224&var=T991M	ENST00000313077		ENSG00000068793	13759		37	1.32		HGNC	p.T560M	rs771146226	CYFIP1		SNV				9.66E-05			ENST00000435939	protein_coding	getma.org/?cm=var&var=hg19,15,22993085,C,T&fts=all		hmmpanther:PTHR12195:SF2,hmmpanther:PTHR12195,Pfam_domain:PF05994,PIRSF_domain:PIRSF008153		T/M		T	low	3097/6863		getma.org/?cm=msa&ty=f&p=CYFP1_HUMAN&rb=385&re=1224&var=T991M	tolerated(0.1)	H0YLJ5_HUMAN,H0YL39_HUMAN			YES	CYFIP1,missense_variant,p.Thr991Met,ENST00000313077,NM_014608.2;CYFIP1,missense_variant,p.Thr560Met,ENST00000435939,NM_001033028.1;CYFIP1,missense_variant,p.Thr991Met,ENST00000560848,NM_001287810.1;CYFIP1,upstream_gene_variant,,ENST00000561263,;CYFIP1,non_coding_transcript_exon_variant,,ENST00000561020,;CYFIP1,upstream_gene_variant,,ENST00000557890,;							MODERATE	2972/3762	T991M	CYFP1_HUMAN			Transcript		benign(0.318)	.	ENSP00000324549	8.24E-06	CCDS10009.1			1	
SDK2	0	LGGM	GRCh37	17	71346512	71346512	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	14	15	.	.	ENST00000392650.3:c.5902A>G	p.Asn1968Asp	p.N1968D	ENST00000392650	NM_001144952.1	1968	Aac/Gac	0	1	1	UPI0000E5A088	0	NA	ENST00000392650		ENSG00000069188	19308		29	0.69		HGNC	p.N1949D		SDK2		SNV							ENST00000388726	protein_coding	getma.org/?cm=var&var=hg19,17,71346512,T,C&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37		N/D		C	neutral	5903/10723		getma.org/?cm=msa&ty=f&p=SDK2_HUMAN&rb=1913&re=2112&var=N1968D	tolerated(0.18)				YES	SDK2,missense_variant,p.Asn1968Asp,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Asn1949Asp,ENST00000388726,;SDK2,missense_variant,p.Asn1125Asp,ENST00000424778,;SDK2,splice_region_variant,,ENST00000410094,;							MODERATE	5902/6519	N1968D	SDK2_HUMAN			Transcript		benign(0.034)	.	ENSP00000376421		CCDS45769.1			1	
ING1	0	LGGM	GRCh37	13	111372094	111372094	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	20	15	.	.	ENST00000375774.3:c.1084T>A	p.Ser362Thr	p.S362T	ENST00000375774	NM_005537.4	362	Tcc/Acc	0	1	1	UPI000013DD4A	0	getma.org/pdb.php?prot=ING1_HUMAN&from=355&to=402&var=S362T	ENST00000375774		ENSG00000153487	6062		35	3.87		HGNC	p.S175T		ING1		SNV			1				ENST00000338450	protein_coding	getma.org/?cm=var&var=hg19,13,111372094,T,A&fts=all		PROSITE_profiles:PS50016,hmmpanther:PTHR10333:SF38,hmmpanther:PTHR10333,PROSITE_patterns:PS01359,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903		S/T		A	high	1546/2870		getma.org/?cm=msa&ty=f&p=ING1_HUMAN&rb=355&re=402&var=S362T	deleterious(0)				YES	ING1,missense_variant,p.Ser362Thr,ENST00000375774,NM_005537.4;ING1,missense_variant,p.Ser219Thr,ENST00000333219,NM_198219.2,NM_001267728.1;ING1,missense_variant,p.Ser175Thr,ENST00000338450,NM_198217.2;ING1,missense_variant,p.Ser150Thr,ENST00000375775,NM_198218.2;ING1,downstream_gene_variant,,ENST00000464141,;							MODERATE	1084/1269	S362T	ING1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000364929		CCDS9517.1			1	
LRRFIP2	0	LGGM	GRCh37	3	37107809	37107809	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	32	15	.	.	ENST00000421307.1:c.1472A>T	p.Glu491Val	p.E491V	ENST00000421307	NM_006309.2	491	gAg/gTg	0	1		UPI0000070DFD	0	NA	ENST00000336686		ENSG00000093167	6703		47	2.36		HGNC	p.E491V		LRRFIP2		SNV			1				ENST00000421307	protein_coding	getma.org/?cm=var&var=hg19,3,37107809,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19212:SF2,hmmpanther:PTHR19212,Pfam_domain:PF09738		E/V		A	medium	1553/3208		getma.org/?cm=msa&ty=f&p=LRRF2_HUMAN&rb=457&re=647&var=E491V	deleterious(0.03)	C9JJC9_HUMAN,C9JC17_HUMAN,C9J321_HUMAN				LRRFIP2,missense_variant,p.Glu491Val,ENST00000421307,NM_006309.2;LRRFIP2,missense_variant,p.Glu491Val,ENST00000336686,;LRRFIP2,missense_variant,p.Glu73Val,ENST00000440742,;LRRFIP2,intron_variant,,ENST00000354379,NM_017724.2;LRRFIP2,intron_variant,,ENST00000421276,NM_001134369.1;LRRFIP2,intron_variant,,ENST00000440230,;LRRFIP2,intron_variant,,ENST00000396428,NM_001282691.1;MLH1,downstream_gene_variant,,ENST00000536378,;LRRFIP2,non_coding_transcript_exon_variant,,ENST00000496479,;LRRFIP2,non_coding_transcript_exon_variant,,ENST00000487246,;LRRFIP2,upstream_gene_variant,,ENST00000460646,;							MODERATE	1472/2166	E491V	LRRF2_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000338727		CCDS2664.1			1	
XIRP1	0	LGGM	GRCh37	3	39228920	39228920	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	15	15	.	.	ENST00000340369.3:c.2017C>T	p.Arg673Cys	p.R673C	ENST00000340369	NM_194293.2	673	Cgt/Tgt	0	1	1	UPI00001BFB06	0	NA	ENST00000340369		ENSG00000168334	14301		30	1.39		HGNC	p.R673C	rs143000605	XIRP1	0.000182	SNV	T:0.0011						ENST00000396251	protein_coding	getma.org/?cm=var&var=hg19,3,39228920,G,A&fts=all		hmmpanther:PTHR22591		R/C	T:0	A	low	2246/6460	6.02E-05	getma.org/?cm=msa&ty=f&p=XIRP1_HUMAN&rb=605&re=769&var=R673C	deleterious(0.01)				YES	XIRP1,missense_variant,p.Arg673Cys,ENST00000340369,NM_194293.2;XIRP1,missense_variant,p.Arg673Cys,ENST00000396251,NM_001198621.1;XIRP1,intron_variant,,ENST00000421646,;							MODERATE	2017/5532	R673C	XIRP1_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000343140	5.77E-05	CCDS2683.1			1	
NR1D1	0	LGGM	GRCh37	17	38251763	38251763	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	8	16	.	.	ENST00000246672.3:c.1182T>C	p.Tyr394=	p.Y394=	ENST00000246672	NM_021724.4	394	taT/taC	0	1	1	UPI00001304C4	0		ENST00000246672		ENSG00000126368	7962		24			HGNC	p.Y394Y		NR1D1		SNV							ENST00000246672	protein_coding			hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF113		Y		G		1813/2772				F1D8S3_HUMAN,B4DTC7_HUMAN			YES	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;							LOW	1182/1845		NR1D1_HUMAN			Transcript			.	ENSP00000246672		CCDS11361.1			1	
NIPA2	0	LGGM	GRCh37	15	23006704	23006704	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	44	16	.	.	ENST00000337451.3:c.600C>G	p.Gly200=	p.G200=	ENST00000337451	NM_030922.6	200	ggC/ggG	0	1	1	UPI0000070013	0		ENST00000337451		ENSG00000140157	17044		60			HGNC	p.G181G		NIPA2		SNV							ENST00000359727	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12570:SF1,hmmpanther:PTHR12570,Pfam_domain:PF05653		G		C		1213/3233				H0YMQ7_HUMAN			YES	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,;							LOW	600/1083		NIPA2_HUMAN			Transcript			.	ENSP00000337618		CCDS10010.1			1	
TACC2	0	LGGM	GRCh37	10	123845099	123845099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	7	16	.	.	ENST00000369005.1:c.3084G>T	p.Trp1028Cys	p.W1028C	ENST00000369005	NM_206862.2	1028	tgG/tgT	0	1		UPI0000246F6B	0	NA	ENST00000334433		ENSG00000138162	11523		23	0.345		HGNC	p.W1028C		TACC2		SNV							ENST00000369005	protein_coding	getma.org/?cm=var&var=hg19,10,123845099,G,T&fts=all		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		W/C		T	neutral	3130/9377		getma.org/?cm=msa&ty=f&p=TACC2_HUMAN&rb=1&re=1559&var=W1028C						TACC2,missense_variant,p.Trp1028Cys,ENST00000369005,NM_206862.2;TACC2,missense_variant,p.Trp1028Cys,ENST00000334433,;TACC2,missense_variant,p.Trp1028Cys,ENST00000515273,;TACC2,missense_variant,p.Trp1028Cys,ENST00000515603,;TACC2,missense_variant,p.Trp1028Cys,ENST00000453444,;TACC2,intron_variant,,ENST00000513429,NM_206861.1;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;							MODERATE	3084/8847	W1028C	TACC2_HUMAN			Transcript		benign(0.423)	.	ENSP00000334280		CCDS7626.1			1	
AP1G1	0	LGGM	GRCh37	16	71779048	71779048	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	28	16	.	.	ENST00000393512.3:c.2007A>T	p.Thr669=	p.T669=	ENST00000393512	NM_001030007.1	669	acA/acT	0	1		UPI000013E60C	0		ENST00000299980		ENSG00000166747	555		44			HGNC	p.T669T		AP1G1		SNV							ENST00000393512	protein_coding			hmmpanther:PTHR22780,hmmpanther:PTHR22780:SF23,PIRSF_domain:PIRSF037094		T		A		2440/6959				H3BV30_HUMAN,H3BS13_HUMAN,H3BRM7_HUMAN,H3BR36_HUMAN,H3BPN9_HUMAN,H3BN75_HUMAN,H3BN71_HUMAN,B3KNW1_HUMAN				AP1G1,splice_region_variant,p.=,ENST00000299980,NM_001128.5;AP1G1,splice_region_variant,p.=,ENST00000423132,;AP1G1,splice_region_variant,p.=,ENST00000569748,;AP1G1,splice_region_variant,p.=,ENST00000433195,;AP1G1,splice_region_variant,p.=,ENST00000393512,NM_001030007.1;AP1G1,splice_region_variant,p.=,ENST00000564155,;AP1G1,downstream_gene_variant,,ENST00000562934,;AP1G1,splice_region_variant,,ENST00000565642,;AP1G1,splice_region_variant,,ENST00000565009,;AP1G1,downstream_gene_variant,,ENST00000568327,;							LOW	1998/2469		AP1G1_HUMAN			Transcript			.	ENSP00000299980		CCDS32480.1			1	
FREM2	0	LGGM	GRCh37	13	39262599	39262599	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	18	16	.	.	ENST00000280481.7:c.1118C>T	p.Thr373Ile	p.T373I	ENST00000280481	NM_207361.4	373	aCc/aTc	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		34	2.485		HGNC	p.T373I		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39262599,C,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		T/I		T	medium	1334/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=201&re=400&var=T373I	tolerated(0.05)				YES	FREM2,missense_variant,p.Thr373Ile,ENST00000280481,NM_207361.4;							MODERATE	1118/9510	T373I	FREM2_HUMAN			Transcript		benign(0.204)	.	ENSP00000280481		CCDS31960.1			1	
ANKRD53	0	LGGM	GRCh37	2	71206464	71206464	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	8	16	.	.	ENST00000360589.3:c.408C>T	p.Thr136=	p.T136=	ENST00000360589	NM_001115116.1	136	acC/acT	0	1	1	UPI000013D952	0		ENST00000360589		ENSG00000144031	25691		24			HGNC	p.T102T	COSM3770733,COSM3770732	ANKRD53		SNV						1,1	ENST00000457410	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR24160,Gene3D:1.25.40.20		T		T		442/1666							YES	ANKRD53,synonymous_variant,p.=,ENST00000272421,NM_024933.3;ANKRD53,synonymous_variant,p.=,ENST00000441349,;ANKRD53,synonymous_variant,p.=,ENST00000457410,;ANKRD53,synonymous_variant,p.=,ENST00000360589,NM_001115116.1;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,non_coding_transcript_exon_variant,,ENST00000496088,;ANKRD53,non_coding_transcript_exon_variant,,ENST00000483334,;AC007040.11,intron_variant,,ENST00000453130,;ANKRD53,upstream_gene_variant,,ENST00000460927,;					1,1		LOW	408/1593		ANR53_HUMAN			Transcript			.	ENSP00000353796		CCDS46321.1			1	
ABCA4	0	LGGM	GRCh37	1	94520852	94520852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	22	16	.	.	ENST00000370225.3:c.2402C>T	p.Ala801Val	p.A801V	ENST00000370225	NM_000350.2	801	gCa/gTa	0	1	1	UPI000012511C	0	NA	ENST00000370225		ENSG00000198691	34		38	3.455		HGNC	p.A727V		ABCA4		SNV			1				ENST00000535735	protein_coding	getma.org/?cm=var&var=hg19,1,94520852,G,A&fts=all		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257		A/V		A	medium	2489/7309		getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=514&re=856&var=A801V	deleterious(0)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN			YES	ABCA4,missense_variant,p.Ala801Val,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Ala727Val,ENST00000535735,;ABCA4,downstream_gene_variant,,ENST00000472033,;							MODERATE	2402/6822	A801V	ABCA4_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000359245		CCDS747.1			1	
PARP8	0	LGGM	GRCh37	5	50128678	50128678	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	48	16	.	.	ENST00000281631.5:c.2297A>G	p.Asn766Ser	p.N766S	ENST00000281631	NM_024615.3	766	aAt/aGt	0	1	1	UPI0000073D19	0	getma.org/pdb.php?prot=PARP8_HUMAN&from=675&to=816&var=N766S	ENST00000281631		ENSG00000151883	26124		64	1.04		HGNC	p.N477S		PARP8		SNV							ENST00000503561	protein_coding	getma.org/?cm=var&var=hg19,5,50128678,A,G&fts=all		Low_complexity_(Seg):seg,Gene3D:3.90.228.10,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3,PROSITE_profiles:PS51059		N/S		G	low	2455/7177		getma.org/?cm=msa&ty=f&p=PARP8_HUMAN&rb=675&re=816&var=N766S	tolerated(0.14)	D6RGZ9_HUMAN			YES	PARP8,missense_variant,p.Asn766Ser,ENST00000281631,NM_024615.3,NM_001178056.1;PARP8,missense_variant,p.Asn724Ser,ENST00000503750,;PARP8,missense_variant,p.Asn745Ser,ENST00000505554,;PARP8,missense_variant,p.Asn724Ser,ENST00000514067,;PARP8,missense_variant,p.Asn766Ser,ENST00000505697,NM_001178055.1;PARP8,missense_variant,p.Asn477Ser,ENST00000514342,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;							MODERATE	2297/2565	N766S	PARP8_HUMAN			Transcript		benign(0.026)	.	ENSP00000281631		CCDS3954.1			1	
CEP170	0	LGGM	GRCh37	1	243319573	243319573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	112	16	.	.	ENST00000366542.1:c.3861G>T	p.Glu1287Asp	p.E1287D	ENST00000366542	NM_014812.2	1287	gaG/gaT	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		128	0.695		HGNC	p.E1153D		CEP170		SNV							ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243319573,C,A&fts=all		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		E/D		A	neutral	3913/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=1248&re=1447&var=E1287D	tolerated(0.07)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Glu1287Asp,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Glu1189Asp,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Glu1153Asp,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Glu1251Asp,ENST00000336415,;CEP170,missense_variant,p.Glu13Asp,ENST00000481987,;CEP170,missense_variant,p.Glu13Asp,ENST00000490813,;CEP170,missense_variant,p.Glu96Asp,ENST00000413359,;CEP170,missense_variant,p.Glu13Asp,ENST00000464936,;CEP170,missense_variant,p.Glu13Asp,ENST00000492145,;							MODERATE	3861/4755	E1287D	CE170_HUMAN			Transcript		benign(0.201)	.	ENSP00000355500		CCDS44339.1			1	
OLFM3	0	LGGM	GRCh37	1	102270466	102270466	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	31	17	.	.	ENST00000370103.4:c.705G>C	p.Trp235Cys	p.W235C	ENST00000370103	NM_058170.2	235	tgG/tgC	0	1		UPI000004C626	0	NA	ENST00000338858		ENSG00000118733	17990		48	3.215		HGNC	p.W255C		OLFM3		SNV							ENST00000338858	protein_coding	getma.org/?cm=var&var=hg19,1,102270466,C,G&fts=all		PROSITE_profiles:PS51132,hmmpanther:PTHR23192:SF36,hmmpanther:PTHR23192,Pfam_domain:PF02191,SMART_domains:SM00284,Superfamily_domains:SSF50969		W/C		G	medium	765/2189		getma.org/?cm=msa&ty=f&p=NOE3_HUMAN&rb=221&re=470&var=W255C	deleterious(0)	Q6IMJ0_HUMAN				OLFM3,missense_variant,p.Trp235Cys,ENST00000370103,NM_058170.2,NM_001288823.1,NM_001288821.1;OLFM3,missense_variant,p.Trp255Cys,ENST00000338858,;OLFM3,3_prime_UTR_variant,,ENST00000536598,;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;OLFM3,non_coding_transcript_exon_variant,,ENST00000465523,;							MODERATE	765/1437	W255C	NOE3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345192					1	
SHPRH	0	LGGM	GRCh37	6	146262938	146262938	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	27	17	.	.	ENST00000367505.2:c.2311A>T	p.Thr771Ser	p.T771S	ENST00000367505		771	Acc/Tcc	0	1		UPI0000458A24	0	getma.org/pdb.php?prot=SHPRH_HUMAN&from=307&to=987&var=T771S	ENST00000275233		ENSG00000146414	19336		44	1.555		HGNC	p.T771S		SHPRH		SNV							ENST00000275233	protein_coding	getma.org/?cm=var&var=hg19,6,146262938,T,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540		T/S		A	low	2710/6649		getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=307&re=987&var=T771S	tolerated(0.08)					SHPRH,missense_variant,p.Thr771Ser,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Thr771Ser,ENST00000367505,;SHPRH,missense_variant,p.Thr771Ser,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Thr771Ser,ENST00000275233,;SHPRH,missense_variant,p.Thr660Ser,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;							MODERATE	2311/5052	T771S	SHPRH_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000275233		CCDS43513.2			1	
CLCA2	0	LGGM	GRCh37	1	86913332	86913332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	29	17	.	.	ENST00000370565.4:c.1855C>A	p.Pro619Thr	p.P619T	ENST00000370565	NM_006536.5	619	Cct/Act	0	1	1	UPI0000035838	0	NA	ENST00000370565		ENSG00000137975	2016		46	2.26		HGNC	p.P619T		CLCA2		SNV							ENST00000370565	protein_coding	getma.org/?cm=var&var=hg19,1,86913332,C,A&fts=all		Pfam_domain:PF09315,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF39,TIGRFAM_domain:TIGR00868		P/T		A	medium	2017/4025		getma.org/?cm=msa&ty=f&p=CLCA2_HUMAN&rb=494&re=674&var=P619T	deleterious(0.02)				YES	CLCA2,missense_variant,p.Pro619Thr,ENST00000370565,NM_006536.5;CLCA2,upstream_gene_variant,,ENST00000498802,;CLCA2,downstream_gene_variant,,ENST00000490884,;							MODERATE	1855/2832	P619T	CLCA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359596		CCDS708.1			1	
RPA2	0	LGGM	GRCh37	1	28241151	28241151	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	18	18	.	.	ENST00000373912.3:c.-197C>A		*66*	ENST00000373912	NM_002946.3			0	1	1	UPI000013379F	0		ENST00000373912		ENSG00000117748	10290		36			HGNC	p.N7K		RPA2		SNV							ENST00000373909	protein_coding							T		104/1752				Q5TEJ0_HUMAN,B4DUL2_HUMAN,B4DQD9_HUMAN,B4DL94_HUMAN			YES	RPA2,missense_variant,p.Asn7Lys,ENST00000373909,;RPA2,5_prime_UTR_variant,,ENST00000373912,NM_002946.3;RPA2,upstream_gene_variant,,ENST00000313433,;RPA2,upstream_gene_variant,,ENST00000444045,;							MODIFIER	-/813		RFA2_HUMAN			Transcript			.	ENSP00000363021		CCDS314.1			1	
TMX3	0	LGGM	GRCh37	18	66355001	66355001	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	53	19	.	.	ENST00000299608.2:c.639G>C	p.Glu213Asp	p.E213D	ENST00000299608	NM_019022.3	213	gaG/gaC	0	1	1	UPI000004A093	0	NA	ENST00000299608		ENSG00000166479	24718		72	2.24		HGNC	p.E213D		TMX3		SNV							ENST00000299608	protein_coding	getma.org/?cm=var&var=hg19,18,66355001,C,G&fts=all		hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF62,Pfam_domain:PF13848		E/D		G	medium	956/4927		getma.org/?cm=msa&ty=f&p=TMX3_HUMAN&rb=157&re=338&var=E213D	deleterious(0.01)				YES	TMX3,missense_variant,p.Glu213Asp,ENST00000299608,NM_019022.3;TMX3,downstream_gene_variant,,ENST00000443099,;TMX3,downstream_gene_variant,,ENST00000566887,;TMX3,splice_region_variant,,ENST00000564631,;TMX3,non_coding_transcript_exon_variant,,ENST00000578765,;TMX3,downstream_gene_variant,,ENST00000569053,;							MODERATE	639/1365	E213D	TMX3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000299608		CCDS32840.1			1	
NTM	0	LGGM	GRCh37	11	132016335	132016335	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	1	20	.	.	ENST00000425719.2:c.327C>T	p.Asp109=	p.D109=	ENST00000425719		109	gaC/gaT	0	1		UPI00001305C6	0		ENST00000374786		ENSG00000182667	17941	8.64E-05	21			HGNC	p.D109D	rs753385528,COSM4019414,COSM4019413,COSM4019416,COSM4019415	NTM		SNV						0,1,1,1,1	ENST00000425719	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19831,hmmpanther:PTHR19831:SF46,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		D		T		806/3190	1.50E-05							NTM,synonymous_variant,p.=,ENST00000374786,NM_001144058.1,NM_016522.2;NTM,synonymous_variant,p.=,ENST00000374791,NM_001048209.1;NTM,synonymous_variant,p.=,ENST00000425719,;NTM,synonymous_variant,p.=,ENST00000374784,NM_001144059.1;NTM,synonymous_variant,p.=,ENST00000539799,;NTM,synonymous_variant,p.=,ENST00000427481,;NTM,synonymous_variant,p.=,ENST00000550167,;NTM,non_coding_transcript_exon_variant,,ENST00000467255,;NTM,intron_variant,,ENST00000498764,;NTM,non_coding_transcript_exon_variant,,ENST00000479431,;	0.000116				0,1,1,1,1		LOW	327/1035		NTRI_HUMAN			Transcript			.	ENSP00000363918	2.47E-05	CCDS8491.1			1	
C7	0	LGGM	GRCh37	5	40981529	40981529	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	49	20	.	.	ENST00000313164.9:c.2386G>T	p.Glu796Ter	p.E796*	ENST00000313164	NM_000587.2	796	Gag/Tag	0	1	1	UPI000020CA08	0	NA	ENST00000313164		ENSG00000112936	1346		69	0		HGNC	p.E796X		C7		SNV			1				ENST00000313164	protein_coding	getma.org/?cm=var&var=hg19,5,40981529,G,T&fts=all		SMART_domains:SM00057		E/*		T	NA	2745/4257		NA					YES	C7,stop_gained,p.Glu796Ter,ENST00000313164,NM_000587.2;C7,downstream_gene_variant,,ENST00000494960,;C7,non_coding_transcript_exon_variant,,ENST00000464864,;C7,downstream_gene_variant,,ENST00000513922,;							HIGH	2386/2532	E796*	CO7_HUMAN			Transcript			.	ENSP00000322061		CCDS47201.1			1	
LRRC7	0	LGGM	GRCh37	1	70504787	70504787	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	13	21	.	.	ENST00000035383.5:c.3166C>T	p.Pro1056Ser	p.P1056S	ENST00000035383	NM_020794.2	1056	Ccc/Tcc	0	1	1	UPI000006F29B	0	NA	ENST00000035383		ENSG00000033122	18531		34	0.345		HGNC	p.P1056S		LRRC7		SNV							ENST00000035383	protein_coding	getma.org/?cm=var&var=hg19,1,70504787,C,T&fts=all				P/S		T	neutral	3196/5000		getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=694&re=1212&var=P1056S	tolerated(0.16)				YES	LRRC7,missense_variant,p.Pro1061Ser,ENST00000310961,;LRRC7,missense_variant,p.Pro1056Ser,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Pro340Ser,ENST00000415775,;							MODERATE	3166/4614	P1056S	LRRC7_HUMAN			Transcript		benign(0)	.	ENSP00000035383		CCDS645.1			1	
TAF1L	0	LGGM	GRCh37	9	32633217	32633217	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	93	21	.	.	ENST00000242310.4:c.2361A>G	p.Arg787=	p.R787=	ENST00000242310	NM_153809.2	787	agA/agG	0	1	1	UPI000007408A	0		ENST00000242310		ENSG00000122728	18056		114			HGNC	p.R787R	rs764369938	TAF1L		SNV							ENST00000242310	protein_coding			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047		R		C		2451/6216	1.50E-05						YES	TAF1L,synonymous_variant,p.=,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							LOW	2361/5481		TAF1L_HUMAN			Transcript			.	ENSP00000418379	8.24E-06	CCDS35003.1			1	
SMG1	0	LGGM	GRCh37	16	18841401	18841401	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	61	21	.	.	ENST00000446231.2:c.8980A>G	p.Ile2994Val	p.I2994V	ENST00000446231		2994	Att/Gtt	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		82	-0.145		HGNC	p.I2994V		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18841401,T,C&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		I/V		C	neutral	9393/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2828&re=3027&var=I2994V	tolerated(1)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Ile2994Val,ENST00000446231,;SMG1,missense_variant,p.Ile2994Val,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Ile2884Val,ENST00000565324,;							MODERATE	8980/10986	I2994V	SMG1_HUMAN			Transcript		benign(0)	.	ENSP00000402515		CCDS45430.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33581340	33581340	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	35	21	.	.	ENST00000321505.4:c.3010G>A	p.Val1004Ile	p.V1004I	ENST00000321505		1004	Gtc/Atc	0	1	1	UPI0000E59322	0	NA	ENST00000321505		ENSG00000110427	24836		56	1.79		HGNC	p.V1010I	rs755959751,COSM4165775,COSM4165774	KIAA1549L		SNV						0,1,1	ENST00000389726	protein_coding	getma.org/?cm=var&var=hg19,11,33581340,G,A&fts=all		Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		V/I		A	low	3190/11678	1.50E-05	getma.org/?cm=msa&ty=f&p=CK041_HUMAN&rb=930&re=1569&var=V1004I	deleterious(0)				YES	KIAA1549L,missense_variant,p.Val1004Ile,ENST00000321505,;KIAA1549L,missense_variant,p.Val1010Ile,ENST00000389726,NM_012194.2;KIAA1549L,missense_variant,p.Val1010Ile,ENST00000265654,;KIAA1549L,missense_variant,p.Val402Ile,ENST00000526400,;	0.000116				0,1,1		MODERATE	3010/5550	V1004I	K154L_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000315295	1.65E-05	CCDS44565.2			1	
NAP1L3	0	LGGM	GRCh37	X	92927256	92927256	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	2	21	.	.	ENST00000373079.3:c.1048C>A	p.Pro350Thr	p.P350T	ENST00000373079	NM_004538.5	350	Cct/Act	0	1	1	UPI0000167B31	0	getma.org/pdb.php?prot=NP1L3_HUMAN&from=205&to=488&var=P350T	ENST00000373079		ENSG00000186310	7639		23	1.055		HGNC	p.P350T		NAP1L3		SNV							ENST00000373079	protein_coding	getma.org/?cm=var&var=hg19,X,92927256,G,T&fts=all		Superfamily_domains:SSF143113,Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38		P/T		T	low	1312/2639		getma.org/?cm=msa&ty=f&p=NP1L3_HUMAN&rb=205&re=488&var=P350T	deleterious(0.01)				YES	NAP1L3,missense_variant,p.Pro350Thr,ENST00000373079,NM_004538.5;NAP1L3,missense_variant,p.Pro343Thr,ENST00000475430,;FAM133A,upstream_gene_variant,,ENST00000538690,NM_001171110.1;FAM133A,upstream_gene_variant,,ENST00000355813,NM_173698.2,NM_001171109.1;FAM133A,upstream_gene_variant,,ENST00000322139,NM_001171111.1;FAM133A,upstream_gene_variant,,ENST00000332647,;							MODERATE	1048/1521	P350T	NP1L3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000362171		CCDS14465.1			1	
SYNPO2	0	LGGM	GRCh37	4	119952613	119952613	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	30	22	.	.	ENST00000307142.4:c.2683G>C	p.Ala895Pro	p.A895P	ENST00000307142	NM_133477.2	895	Gcc/Ccc	0	1		UPI000015FD15	0	NA	ENST00000429713		ENSG00000172403	17732		52	1.725		HGNC	p.A895P		SYNPO2		SNV							ENST00000429713	protein_coding	getma.org/?cm=var&var=hg19,4,119952613,G,C&fts=all		hmmpanther:PTHR24217,hmmpanther:PTHR24217:SF9		A/P		C	low	2865/7242		getma.org/?cm=msa&ty=f&p=SYNP2_HUMAN&rb=886&re=1085&var=A895P	deleterious(0)	B4DLE4_HUMAN				SYNPO2,missense_variant,p.Ala895Pro,ENST00000307142,NM_133477.2,NM_001286754.1;SYNPO2,missense_variant,p.Ala895Pro,ENST00000429713,NM_001128933.1;SYNPO2,missense_variant,p.Ala847Pro,ENST00000504178,;SYNPO2,missense_variant,p.Ala895Pro,ENST00000434046,NM_001128934.2;SYNPO2,intron_variant,,ENST00000448416,;							MODERATE	2683/3282	A895P	SYNP2_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000395143		CCDS47129.1			1	
TTK	0	LGGM	GRCh37	6	80749994	80749994	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	37	22	.	.	ENST00000369798.2:c.2389C>T	p.Pro797Ser	p.P797S	ENST00000369798	NM_003318.4	797	Cca/Tca	0	1	1	UPI0000073C7B	0	getma.org/pdb.php?prot=TTK_HUMAN&from=792&to=800&var=P797S	ENST00000369798		ENSG00000112742	12401		59	1.095		HGNC	p.P796S		TTK		SNV							ENST00000509894	protein_coding	getma.org/?cm=var&var=hg19,6,80749994,C,T&fts=all		hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974		P/S		T	low	2500/3010		getma.org/?cm=msa&ty=f&p=TTK_HUMAN&rb=762&re=830&var=P797S	tolerated(0.48)	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN			YES	TTK,missense_variant,p.Pro796Ser,ENST00000509894,;TTK,missense_variant,p.Pro796Ser,ENST00000230510,;TTK,missense_variant,p.Pro797Ser,ENST00000369798,NM_003318.4,NM_001166691.1;TTK,downstream_gene_variant,,ENST00000504590,;							MODERATE	2389/2574	P797S	TTK_HUMAN			Transcript		benign(0.004)	.	ENSP00000358813		CCDS4993.1			1	
KRTAP13-1	0	LGGM	GRCh37	21	31768683	31768683	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	23	22	.	.	ENST00000355459.2:c.279G>T	p.Gln93His	p.Q93H	ENST00000355459	NM_181599.2	93	caG/caT	0	1	1	UPI00001618F7	0	NA	ENST00000355459		ENSG00000198390	18924		45	1.925		HGNC	p.Q93H		KRTAP13-1		SNV							ENST00000355459	protein_coding	getma.org/?cm=var&var=hg19,21,31768683,G,T&fts=all		hmmpanther:PTHR19051:SF17,hmmpanther:PTHR19051,Pfam_domain:PF05287		Q/H		T	medium	292/745		getma.org/?cm=msa&ty=f&p=KR131_HUMAN&rb=1&re=170&var=Q93H	tolerated(0.07)				YES	KRTAP13-1,missense_variant,p.Gln93His,ENST00000355459,NM_181599.2;							MODERATE	279/519	Q93H	KR131_HUMAN			Transcript		benign(0.044)	.	ENSP00000347635		CCDS13590.2			1	
XYLT1	0	LGGM	GRCh37	16	17353078	17353078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	41	22	.	.	ENST00000261381.6:c.680G>A	p.Ser227Asn	p.S227N	ENST00000261381	NM_022166.3	227	aGc/aAc	0	1	1	UPI000000DCCE	0	NA	ENST00000261381		ENSG00000103489	15516		63	0.755		HGNC	p.S227N		XYLT1		SNV			1				ENST00000261381	protein_coding	getma.org/?cm=var&var=hg19,16,17353078,C,T&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91		S/N		T	neutral	765/9891		getma.org/?cm=msa&ty=f&p=XYLT1_HUMAN&rb=128&re=245&var=S227N	tolerated_low_confidence(0.25)				YES	XYLT1,missense_variant,p.Ser227Asn,ENST00000261381,NM_022166.3;XYLT1,upstream_gene_variant,,ENST00000575674,;							MODERATE	680/2880	S227N	XYLT1_HUMAN			Transcript		benign(0.111)	.	ENSP00000261381		CCDS10569.1			1	
GABRG3	0	LGGM	GRCh37	15	27765196	27765196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	53	23	.	.	ENST00000333743.6:c.791G>A	p.Cys264Tyr	p.C264Y	ENST00000333743	NM_033223.4	264	tGt/tAt	0	1	1	UPI000012AFCB	0	getma.org/pdb.php?prot=GBRG3_HUMAN&from=260&to=461&var=C264Y	ENST00000333743		ENSG00000182256	4088		76	2.86		HGNC	p.C264Y		GABRG3		SNV							ENST00000333743	protein_coding	getma.org/?cm=var&var=hg19,15,27765196,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF195,hmmpanther:PTHR18945,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR00253		C/Y		A	medium	1045/2004		getma.org/?cm=msa&ty=f&p=GBRG3_HUMAN&rb=260&re=461&var=C264Y	deleterious(0)				YES	GABRG3,missense_variant,p.Cys264Tyr,ENST00000333743,NM_033223.4;GABRG3,missense_variant,p.Cys206Tyr,ENST00000554696,;GABRG3,missense_variant,p.Cys27Tyr,ENST00000451330,;RP11-100M12.3,intron_variant,,ENST00000556642,;							MODERATE	791/1404	C264Y	GBRG3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000331912		CCDS45195.1			1	
SLTM	0	LGGM	GRCh37	15	59191813	59191813	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	47	23	.	.	ENST00000380516.2:c.913G>A	p.Asp305Asn	p.D305N	ENST00000380516	NM_001013843.1	305	Gat/Aat	0	1	1	UPI0000039EA4	0	NA	ENST00000380516		ENSG00000137776	20709		70	1.995		HGNC	p.D287N		SLTM		SNV							ENST00000249736	protein_coding	getma.org/?cm=var&var=hg19,15,59191813,C,T&fts=all		hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5		D/N		T	medium	1001/4147		getma.org/?cm=msa&ty=f&p=SLTM_HUMAN&rb=57&re=381&var=D305N	tolerated(0.12)	H0YKH2_HUMAN,A8K5V8_HUMAN			YES	SLTM,missense_variant,p.Asp305Asn,ENST00000380516,NM_001013843.1,NM_024755.2;SLTM,missense_variant,p.Asp287Asn,ENST00000249736,;SLTM,missense_variant,p.Asp229Asn,ENST00000559880,;SLTM,intron_variant,,ENST00000536328,;RNF111,intron_variant,,ENST00000559757,;SLTM,upstream_gene_variant,,ENST00000432750,;SLTM,downstream_gene_variant,,ENST00000558486,;SLTM,downstream_gene_variant,,ENST00000560682,;SLTM,downstream_gene_variant,,ENST00000557950,;SLTM,non_coding_transcript_exon_variant,,ENST00000480144,;SLTM,intron_variant,,ENST00000492526,;SLTM,intron_variant,,ENST00000557924,;SLTM,intron_variant,,ENST00000558756,;SLTM,intron_variant,,ENST00000559305,;SLTM,upstream_gene_variant,,ENST00000497088,;SLTM,upstream_gene_variant,,ENST00000473359,;SLTM,downstream_gene_variant,,ENST00000560532,;							MODERATE	913/3105	D305N	SLTM_HUMAN			Transcript		unknown(0)	.	ENSP00000369887		CCDS10168.2			1	
AFTPH	0	LGGM	GRCh37	2	64778780	64778780	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	156	23	.	.	ENST00000238855.7:c.172G>C	p.Glu58Gln	p.E58Q	ENST00000238855	NM_203437.3	58	Gag/Cag	0	1	1	UPI00003E1F8E	0	NA	ENST00000238855		ENSG00000119844	25951		179	1.845		HGNC	p.E58Q		AFTPH		SNV							ENST00000238856	protein_coding	getma.org/?cm=var&var=hg19,2,64778780,G,C&fts=all		hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156		E/Q		C	low	486/4087		getma.org/?cm=msa&ty=f&p=AFTIN_HUMAN&rb=1&re=149&var=E58Q	deleterious(0.01)				YES	AFTPH,missense_variant,p.Glu58Gln,ENST00000422803,;AFTPH,missense_variant,p.Glu58Gln,ENST00000238855,NM_203437.3;AFTPH,missense_variant,p.Glu58Gln,ENST00000238856,NM_001002243.2,NM_017657.4;AFTPH,missense_variant,p.Glu58Gln,ENST00000409933,;AFTPH,upstream_gene_variant,,ENST00000409183,;AFTPH,upstream_gene_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;							MODERATE	172/2811	E58Q	AFTIN_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000238855		CCDS46303.1			1	
COL4A4	0	LGGM	GRCh37	2	227915786	227915786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	45	23	.	.	ENST00000396625.3:c.3057G>T	p.Glu1019Asp	p.E1019D	ENST00000396625	NM_000092.4	1019	gaG/gaT	0	1	1	UPI000013D987	0	NA	ENST00000396625		ENSG00000081052	2206		68	1.08		HGNC	p.E1019D		COL4A4		SNV			1				ENST00000329662	protein_coding	getma.org/?cm=var&var=hg19,2,227915786,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391,Pfam_domain:PF01391		E/D		A	low	3265/9895		getma.org/?cm=msa&ty=f&p=CO4A4_HUMAN&rb=1015&re=1080&var=E1019D					YES	COL4A4,missense_variant,p.Glu1019Asp,ENST00000396625,NM_000092.4;COL4A4,missense_variant,p.Glu1019Asp,ENST00000329662,;							MODERATE	3057/5073	E1019D	CO4A4_HUMAN			Transcript		unknown(0)	.	ENSP00000379866		CCDS42828.1			1	
TMF1	0	LGGM	GRCh37	3	69082718	69082718	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	43	23	.	.	ENST00000398559.2:c.2382G>T	p.Lys794Asn	p.K794N	ENST00000398559		794	aaG/aaT	0	1	1	UPI000013D9A7	0	NA	ENST00000398559		ENSG00000144747	11870		66	2.25		HGNC	p.K797N	COSM1048260	TMF1		SNV						1	ENST00000543976	protein_coding	getma.org/?cm=var&var=hg19,3,69082718,C,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285		K/N		A	medium	2599/6849		getma.org/?cm=msa&ty=f&p=TMF1_HUMAN&rb=616&re=815&var=K794N	deleterious(0)				YES	TMF1,missense_variant,p.Lys797Asn,ENST00000543976,NM_007114.2;TMF1,missense_variant,p.Lys794Asn,ENST00000398559,;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,,ENST00000599467,;CTD-2013N24.2,intron_variant,,ENST00000601511,;CTD-2013N24.2,intron_variant,,ENST00000596523,;CTD-2013N24.2,downstream_gene_variant,,ENST00000597366,;CTD-2013N24.2,upstream_gene_variant,,ENST00000596274,;TMF1,intron_variant,,ENST00000488010,;					1		MODERATE	2382/3282	K794N	TMF1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000381567		CCDS43105.1			1	
OR1N2	0	LGGM	GRCh37	9	125315841	125315841	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	28	23	.	.	ENST00000373688.2:c.393G>A	p.Leu131=	p.L131=	ENST00000373688	NM_001004457.1	131	ctG/ctA	0	1	1	UPI000004618C	0		ENST00000373688		ENSG00000171501	15111		51			HGNC	p.L131L		OR1N2		SNV							ENST00000373688	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF156,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		451/1103							YES	OR1N2,synonymous_variant,p.=,ENST00000373688,NM_001004457.1;							LOW	393/993		OR1N2_HUMAN			Transcript			.	ENSP00000362792		CCDS35123.1			1	
ADCYAP1R1	0	LGGM	GRCh37	7	31146137	31146137	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	21	23	.	.	ENST00000396211.2:c.1330C>A	p.Arg444=	p.R444=	ENST00000396211		444	Cga/Aga	0	1		UPI0000061EE0	0		ENST00000304166		ENSG00000078549	242		44			HGNC	p.R444R		ADCYAP1R1		SNV							ENST00000396211	protein_coding			Prints_domain:PR01156,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF81321		R		A		1535/6487				C9JVH3_HUMAN				ADCYAP1R1,synonymous_variant,p.=,ENST00000304166,NM_001199636.1,NM_001199635.1,NM_001118.4;ADCYAP1R1,synonymous_variant,p.=,ENST00000409363,NM_001199637.1;ADCYAP1R1,synonymous_variant,p.=,ENST00000409489,;ADCYAP1R1,synonymous_variant,p.=,ENST00000396211,;ADCYAP1R1,downstream_gene_variant,,ENST00000436116,;							LOW	1246/1407		PACR_HUMAN			Transcript			.	ENSP00000306620		CCDS5433.1			1	
CNTN3	0	LGGM	GRCh37	3	74334631	74334631	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	51	24	.	.	ENST00000263665.6:c.2529G>C	p.Trp843Cys	p.W843C	ENST00000263665	NM_020872.1	843	tgG/tgC	0	1	1	UPI00001A7974	0	getma.org/pdb.php?prot=CNTN3_HUMAN&from=804&to=891&var=W843C	ENST00000263665		ENSG00000113805	2173		75	2.625		HGNC	p.W843C		CNTN3		SNV							ENST00000263665	protein_coding	getma.org/?cm=var&var=hg19,3,74334631,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,SMART_domains:SM00060,Superfamily_domains:SSF49265		W/C		G	medium	2557/4948		getma.org/?cm=msa&ty=f&p=CNTN3_HUMAN&rb=804&re=891&var=W843C	deleterious(0)				YES	CNTN3,missense_variant,p.Trp843Cys,ENST00000263665,NM_020872.1;							MODERATE	2529/3087	W843C	CNTN3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263665		CCDS33790.1			1	
MICALCL	0	LGGM	GRCh37	11	12315287	12315287	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	50	25	.	.	ENST00000256186.2:c.309C>G	p.Leu103=	p.L103=	ENST00000256186	NM_032867.2	103	ctC/ctG	0	1	1	UPI0000228C2E	0		ENST00000256186		ENSG00000133808	25933		75			HGNC	p.L103L		MICALCL		SNV							ENST00000256186	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF12		L		G		600/3044				E9PRG5_HUMAN			YES	MICALCL,synonymous_variant,p.=,ENST00000256186,NM_032867.2;MICALCL,downstream_gene_variant,,ENST00000533534,;							LOW	309/2088		MICLK_HUMAN			Transcript			.	ENSP00000256186		CCDS41620.1			1	
FAM129A	0	LGGM	GRCh37	1	184764692	184764692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	54	26	.	.	ENST00000367511.3:c.2206G>A	p.Gly736Arg	p.G736R	ENST00000367511	NM_052966.3	736	Ggg/Agg	0	1	1	UPI00000375B3	0	NA	ENST00000367511		ENSG00000135842	16784		80	0		HGNC	p.G736R		FAM129A		SNV							ENST00000367511	protein_coding	getma.org/?cm=var&var=hg19,1,184764692,C,T&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF3		G/R		T	neutral	2400/6928		getma.org/?cm=msa&ty=f&p=NIBAN_HUMAN&rb=595&re=794&var=G736R	tolerated_low_confidence(0.1)				YES	FAM129A,missense_variant,p.Gly736Arg,ENST00000367511,NM_052966.3;FAM129A,intron_variant,,ENST00000417056,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;							MODERATE	2206/2787	G736R	NIBAN_HUMAN			Transcript		benign(0.004)	.	ENSP00000356481		CCDS1364.1			1	
ABRACL	0	LGGM	GRCh37	6	139363889	139363889	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	71	26	.	.	ENST00000367660.3:c.95T>G	p.Val32Gly	p.V32G	ENST00000367660	NM_021243.2	32	gTc/gGc	0	1	1	UPI000004BBBC	0		ENST00000367660		ENSG00000146386	21230		97			HGNC	p.V32G		ABRACL		SNV							ENST00000367660	protein_coding			Pfam_domain:PF14705,hmmpanther:PTHR22739		V/G		G		295/845			tolerated(0.3)				YES	ABRACL,missense_variant,p.Val32Gly,ENST00000367660,NM_021243.2;							MODERATE	95/246		ABRAL_HUMAN			Transcript		possibly_damaging(0.575)	.	ENSP00000356632		CCDS43509.1			1	
ZNF800	0	LGGM	GRCh37	7	127014479	127014479	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	58	27	.	.	ENST00000393313.1:c.911G>C	p.Arg304Thr	p.R304T	ENST00000393313		304	aGg/aCg	0	1		UPI000020FA03	0	NA	ENST00000265827		ENSG00000048405	27267		85	0.805		HGNC	p.R304T		ZNF800		SNV							ENST00000393313	protein_coding	getma.org/?cm=var&var=hg19,7,127014479,C,G&fts=all		SMART_domains:SM00355,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR21020,PROSITE_profiles:PS50157		R/T		G	low	1604/4203		getma.org/?cm=msa&ty=f&p=ZN800_HUMAN&rb=268&re=330&var=R304T	deleterious(0)	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN				ZNF800,missense_variant,p.Arg304Thr,ENST00000393313,;ZNF800,missense_variant,p.Arg304Thr,ENST00000265827,NM_176814.3;ZNF800,missense_variant,p.Arg304Thr,ENST00000393312,;ZNF800,downstream_gene_variant,,ENST00000434602,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,upstream_gene_variant,,ENST00000485577,;							MODERATE	911/1995	R304T	ZN800_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000265827		CCDS5795.1			1	
NECAB1	0	LGGM	GRCh37	8	91929746	91929746	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	44	27	.	.	ENST00000417640.2:c.384A>G	p.Glu128=	p.E128=	ENST00000417640	NM_022351.4	128	gaA/gaG	0	1	1	UPI0000070EEA	0		ENST00000417640		ENSG00000123119	20983		71			HGNC	p.E128E		NECAB1		SNV							ENST00000417640	protein_coding			hmmpanther:PTHR12178:SF11,hmmpanther:PTHR12178		E		G		721/5289							YES	NECAB1,synonymous_variant,p.=,ENST00000417640,NM_022351.4;							LOW	384/1056		NECA1_HUMAN			Transcript			.	ENSP00000387380		CCDS47889.1			1	
KIAA1551	0	LGGM	GRCh37	12	32137173	32137173	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	25	27	.	.	ENST00000312561.4:c.3284C>A	p.Ser1095Tyr	p.S1095Y	ENST00000312561	NM_018169.3	1095	tCt/tAt	0	1	1	UPI0000577B2F	0	NA	ENST00000312561		ENSG00000174718	25559		52	0.69		HGNC	p.S1095Y		KIAA1551		SNV							ENST00000312561	protein_coding	getma.org/?cm=var&var=hg19,12,32137173,C,A&fts=all		Pfam_domain:PF15395,hmmpanther:PTHR21604		S/Y		A	neutral	3698/6228		getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=654&re=1223&var=S1095Y	deleterious(0.03)	J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,missense_variant,p.Ser1095Tyr,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,;							MODERATE	3284/5244	S1095Y	K1551_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000310338		CCDS8725.2			1	
KIAA1239	0	LGGM	GRCh37	4	37448551	37448551	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	4	27	.	.	ENST00000309447.5:c.4941C>G	p.Asp1647Glu	p.D1647E	ENST00000309447	NM_001144990.1	1647	gaC/gaG	0	1	1	UPI00006C0875	0	NA	ENST00000309447		ENSG00000174145	29229		31	0.895		HGNC	p.D1647E		KIAA1239		SNV							ENST00000309447	protein_coding	getma.org/?cm=var&var=hg19,4,37448551,C,G&fts=all		hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Superfamily_domains:SSF50978		D/E		G	low	5789/8325		getma.org/?cm=msa&ty=f&p=K1239_HUMAN&rb=1576&re=1742&var=D1647E	deleterious(0)				YES	KIAA1239,missense_variant,p.Asp1647Glu,ENST00000309447,NM_001144990.1;							MODERATE	4941/5229	D1647E	K1239_HUMAN			Transcript		possibly_damaging(0.787)	.	ENSP00000309501		CCDS47040.1			1	
GPRIN3	0	LGGM	GRCh37	4	90169997	90169997	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	26	28	.	.	ENST00000609438.1:c.1265C>A	p.Ser422Ter	p.S422*	ENST00000609438	NM_198281.2	422	tCa/tAa	0	1		UPI00001C1E20	0	NA	ENST00000333209		ENSG00000185477	27733		54	0		HGNC	p.S422X	rs753373957	GPRIN3	6.06E-05	SNV							ENST00000333209	protein_coding	getma.org/?cm=var&var=hg19,4,90169997,G,T&fts=all		hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF2		S/*		T	NA	2349/6260		NA						GPRIN3,stop_gained,p.Ser422Ter,ENST00000609438,NM_198281.2;GPRIN3,stop_gained,p.Ser422Ter,ENST00000333209,;							HIGH	1265/2331	S422*	GRIN3_HUMAN			Transcript			.	ENSP00000328672	8.24E-06	CCDS34030.1			1	
COL24A1	0	LGGM	GRCh37	1	86591028	86591028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	66	28	.	.	ENST00000370571.2:c.991G>T	p.Gly331Trp	p.G331W	ENST00000370571	NM_152890.5	331	Ggg/Tgg	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		94	0.695		HGNC	p.G331W		COL24A1		SNV							ENST00000426639	protein_coding	getma.org/?cm=var&var=hg19,1,86591028,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		G/W		A	neutral	1358/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=271&re=486&var=G331W	deleterious(0.01)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Gly331Trp,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Gly331Trp,ENST00000436319,;COL24A1,downstream_gene_variant,,ENST00000496682,;COL24A1,missense_variant,p.Gly331Trp,ENST00000426639,;							MODERATE	991/5145	G331W	COOA1_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000359603		CCDS41353.1			1	
RNPEP	0	LGGM	GRCh37	1	201972410	201972411	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	by Submitter	H061394	H061394N.bam	AC	AC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	10	29	.	.	ENST00000295640.4:c.1472_1473del	p.Tyr491SerfsTer3	p.Y491Sfs*3	ENST00000295640	NM_020216.3	491	tAC/t	0	1	1	UPI00000463FA	0		ENST00000295640		ENSG00000176393	10078		39			HGNC	p.452_452del		RNPEP		deletion							ENST00000367286	protein_coding			Gene3D:1.10.390.10,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF153,Superfamily_domains:SSF55486		Y/X		-		1515-1516/2427							YES	RNPEP,frameshift_variant,p.Tyr491SerfsTer3,ENST00000295640,NM_020216.3;RNPEP,frameshift_variant,p.Tyr452SerfsTer3,ENST00000367286,;ELF3,upstream_gene_variant,,ENST00000359651,;RNPEP,downstream_gene_variant,,ENST00000447312,;RNPEP,downstream_gene_variant,,ENST00000449524,;RP11-465N4.4,intron_variant,,ENST00000419190,;RP11-465N4.4,upstream_gene_variant,,ENST00000415582,;RNPEP,non_coding_transcript_exon_variant,,ENST00000471105,;RNPEP,non_coding_transcript_exon_variant,,ENST00000478617,;RNPEP,non_coding_transcript_exon_variant,,ENST00000492849,;RNPEP,non_coding_transcript_exon_variant,,ENST00000479531,;RNPEP,non_coding_transcript_exon_variant,,ENST00000464707,;RNPEP,downstream_gene_variant,,ENST00000481780,;RNPEP,downstream_gene_variant,,ENST00000479726,;RNPEP,downstream_gene_variant,,ENST00000492587,;							HIGH	1472-1473/1953		AMPB_HUMAN			Transcript			.	ENSP00000295640		CCDS1418.1			1	
USP34	0	LGGM	GRCh37	2	61468731	61468731	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	45	29	.	.	ENST00000398571.2:c.6741A>G	p.Arg2247=	p.R2247=	ENST00000398571	NM_014709.3	2247	agA/agG	0	1	1	UPI0000410E09	0		ENST00000398571		ENSG00000115464	20066		74			HGNC	p.R2247R		USP34		SNV							ENST00000398571	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97,Superfamily_domains:SSF54001		R		C		6818/11357							YES	USP34,synonymous_variant,p.=,ENST00000398571,NM_014709.3;USP34,synonymous_variant,p.=,ENST00000411912,;USP34,synonymous_variant,p.=,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;							LOW	6741/10641		UBP34_HUMAN			Transcript			.	ENSP00000381577		CCDS42686.1			1	
RELN	0	LGGM	GRCh37	7	103141360	103141360	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	79	30	.	.	ENST00000428762.1:c.8499G>A	p.Arg2833=	p.R2833=	ENST00000428762	NM_005045.3	2833	agG/agA	0	1	1	UPI00001678BC	0		ENST00000428762		ENSG00000189056	9957		109			HGNC	p.R2833R		RELN		SNV			1				ENST00000424685	protein_coding			hmmpanther:PTHR11841		R		T		8659/11571				Q75MM8_HUMAN			YES	RELN,synonymous_variant,p.=,ENST00000424685,;RELN,synonymous_variant,p.=,ENST00000428762,NM_005045.3;RELN,synonymous_variant,p.=,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;							LOW	8499/10383		RELN_HUMAN			Transcript			.	ENSP00000392423		CCDS47680.1			1	
LRIF1	0	LGGM	GRCh37	1	111494818	111494818	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	44	30	.	.	ENST00000369763.4:c.688A>G	p.Ile230Val	p.I230V	ENST00000369763	NM_018372.3	230	Att/Gtt	0	1	1	UPI0000205296	0	NA	ENST00000369763		ENSG00000121931	30299		74	0.255		HGNC	p.I230V		LRIF1		SNV							ENST00000369763	protein_coding	getma.org/?cm=var&var=hg19,1,111494818,T,C&fts=all		hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2		I/V		C	neutral	1079/3475		getma.org/?cm=msa&ty=f&p=LRIF1_HUMAN&rb=201&re=400&var=I230V	deleterious(0.04)				YES	LRIF1,missense_variant,p.Ile230Val,ENST00000369763,NM_018372.3;LRIF1,intron_variant,,ENST00000494675,;LRIF1,intron_variant,,ENST00000485275,NM_001006945.1;RP11-96K19.2,non_coding_transcript_exon_variant,,ENST00000440689,;							MODERATE	688/2310	I230V	LRIF1_HUMAN			Transcript		benign(0.274)	.	ENSP00000358778		CCDS30800.1			1	
TPR	0	LGGM	GRCh37	1	186321155	186321155	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	172	30	.	.	ENST00000367478.4:c.2422G>A	p.Glu808Lys	p.E808K	ENST00000367478	NM_003292.2	808	Gaa/Aaa	0	1	1	UPI000046FCF4	0	NA	ENST00000367478		ENSG00000047410	12017		202	1.955		HGNC	p.E808K		TPR		SNV			1				ENST00000367478	protein_coding	getma.org/?cm=var&var=hg19,1,186321155,C,T&fts=all		hmmpanther:PTHR18898		E/K		T	medium	2719/9708		getma.org/?cm=msa&ty=f&p=TPR_HUMAN&rb=762&re=961&var=E808K		Q9UE33_HUMAN			YES	TPR,missense_variant,p.Glu808Lys,ENST00000367478,NM_003292.2;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,non_coding_transcript_exon_variant,,ENST00000491783,;TPR,non_coding_transcript_exon_variant,,ENST00000469463,;							MODERATE	2422/7092	E808K	TPR_HUMAN			Transcript		benign(0.292)	.	ENSP00000356448		CCDS41446.1			1	
SLC4A8	0	LGGM	GRCh37	12	51845949	51845949	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	93	32	.	.	ENST00000453097.2:c.319G>C	p.Glu107Gln	p.E107Q	ENST00000453097	NM_001039960.2	107	Gaa/Caa	0	1	1	UPI00005E6FB4	0	NA	ENST00000453097		ENSG00000050438	11034		125	1.15		HGNC	p.E107Q		SLC4A8		SNV							ENST00000453097	protein_coding	getma.org/?cm=var&var=hg19,12,51845949,G,C&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37		E/Q		C	low	536/4395		getma.org/?cm=msa&ty=f&p=S4A8_HUMAN&rb=1&re=144&var=E107Q	tolerated(0.08)				YES	SLC4A8,missense_variant,p.Glu107Gln,ENST00000453097,NM_001039960.2,NM_001258401.2;SLC4A8,missense_variant,p.Glu134Gln,ENST00000358657,;SLC4A8,missense_variant,p.Glu54Gln,ENST00000514353,NM_001258403.1;SLC4A8,missense_variant,p.Glu54Gln,ENST00000394856,;SLC4A8,missense_variant,p.Glu54Gln,ENST00000535225,NM_001258402.1,NM_001267615.1;SLC4A8,non_coding_transcript_exon_variant,,ENST00000548352,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000547697,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000552001,;							MODERATE	319/3282	E107Q	S4A8_HUMAN			Transcript		benign(0.358)	.	ENSP00000405812		CCDS44890.1			1	
FUBP1	0	LGGM	GRCh37	1	78430402	78430402	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	81	32	.	.	ENST00000370768.2:c.766C>T	p.Arg256Cys	p.R256C	ENST00000370768	NM_003902.3	256	Cgt/Tgt	0	1	1	UPI0000070218	0	getma.org/pdb.php?prot=FUBP1_HUMAN&from=252&to=276&var=R256C	ENST00000370768		ENSG00000162613	4004		113	2.19		HGNC	p.R277C	rs372081866	FUBP1		SNV	A:0.0002			9.62E-05			ENST00000436586	protein_coding	getma.org/?cm=var&var=hg19,1,78430402,G,A&fts=all		hmmpanther:PTHR10288:SF99,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		R/C	A:0	A	medium	848/2378		getma.org/?cm=msa&ty=f&p=FUBP1_HUMAN&rb=222&re=306&var=R256C	deleterious(0.01)				YES	FUBP1,missense_variant,p.Arg256Cys,ENST00000370767,;FUBP1,missense_variant,p.Arg256Cys,ENST00000370768,NM_003902.3;FUBP1,missense_variant,p.Arg277Cys,ENST00000436586,;FUBP1,downstream_gene_variant,,ENST00000421641,;FUBP1,upstream_gene_variant,,ENST00000470287,;FUBP1,missense_variant,p.Arg255Cys,ENST00000294623,;							MODERATE	766/1935	R256C	FUBP1_HUMAN			Transcript		benign(0.214)	.	ENSP00000359804	8.24E-06	CCDS683.1			1	
TMEM71	0	LGGM	GRCh37	8	133764087	133764087	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	21	33	.	.	ENST00000356838.3:c.258C>A	p.Gly86=	p.G86=	ENST00000356838	NM_144649.2	86	ggC/ggA	0	1	1	UPI000013E44E	0		ENST00000356838		ENSG00000165071	26572		54			HGNC	p.G86G		TMEM71		SNV							ENST00000523829	protein_coding			Pfam_domain:PF15121		G		T		401/1993				E5RH69_HUMAN,E5RGD3_HUMAN			YES	TMEM71,synonymous_variant,p.=,ENST00000356838,NM_144649.2;TMEM71,synonymous_variant,p.=,ENST00000523829,;TMEM71,synonymous_variant,p.=,ENST00000377901,NM_001145153.1;TMEM71,synonymous_variant,p.=,ENST00000519187,;TMEM71,synonymous_variant,p.=,ENST00000519304,;TMEM71,5_prime_UTR_variant,,ENST00000522334,;TMEM71,5_prime_UTR_variant,,ENST00000519016,;TMEM71,non_coding_transcript_exon_variant,,ENST00000517538,;							LOW	258/831		TMM71_HUMAN			Transcript			.	ENSP00000349296		CCDS6366.1			1	
KCNU1	0	LGGM	GRCh37	8	36698520	36698520	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	63	33	.	.	ENST00000399881.3:c.1702T>C	p.Cys568Arg	p.C568R	ENST00000399881	NM_001031836.2	568	Tgt/Cgt	0	1	1	UPI0000F079EF	0	NA	ENST00000399881		ENSG00000215262	18867		96	1.87		HGNC	p.C568R		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36698520,T,C&fts=all		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		C/R		C	low	1739/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=559&re=758&var=C568R	tolerated(0.3)				YES	KCNU1,missense_variant,p.Cys568Arg,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Cys568Arg,ENST00000522372,;							MODERATE	1702/3450	C568R	KCNU1_HUMAN			Transcript		benign(0.04)	.	ENSP00000382770		CCDS55220.1			1	
RNF20	0	LGGM	GRCh37	9	104302605	104302605	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	40	33	.	.	ENST00000389120.3:c.250G>A	p.Ala84Thr	p.A84T	ENST00000389120	NM_019592.6	84	Gcc/Acc	0	1	1	UPI00001CE3B5	0	NA	ENST00000389120		ENSG00000155827	10062		73	1.235		HGNC	p.A70T		RNF20		SNV							ENST00000488264	protein_coding	getma.org/?cm=var&var=hg19,9,104302605,G,A&fts=all		hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163,Coiled-coils_(Ncoils):Coil		A/T		A	low	340/3936		getma.org/?cm=msa&ty=f&p=BRE1A_HUMAN&rb=1&re=731&var=A84T	tolerated(0.57)	C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN			YES	RNF20,missense_variant,p.Ala84Thr,ENST00000389120,NM_019592.6;RNF20,missense_variant,p.Ala84Thr,ENST00000466817,;RNF20,missense_variant,p.Ala84Thr,ENST00000374819,;RNF20,missense_variant,p.Ala84Thr,ENST00000479306,;RNF20,downstream_gene_variant,,ENST00000481046,;							MODERATE	250/2928	A84T	BRE1A_HUMAN			Transcript		benign(0)	.	ENSP00000373772		CCDS35084.1			1	
OR6K3	0	LGGM	GRCh37	1	158687806	158687806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	201	37	.	.	ENST00000368145.1:c.100A>T	p.Ile34Phe	p.I34F	ENST00000368145	NM_001005327.2	34	Atc/Ttc	0	1		UPI000004B220	0	getma.org/pdb.php?prot=OR6K3_HUMAN&from=1&to=154&var=I50F	ENST00000368146		ENSG00000203757	15030		238	1.61		HGNC	p.I50F		OR6K3		SNV							ENST00000368146	protein_coding	getma.org/?cm=var&var=hg19,1,158687806,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF35,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/F		A	low	148/996		getma.org/?cm=msa&ty=f&p=OR6K3_HUMAN&rb=1&re=154&var=I50F	deleterious(0)					OR6K3,missense_variant,p.Ile50Phe,ENST00000368146,;OR6K3,missense_variant,p.Ile34Phe,ENST00000368145,NM_001005327.2;							MODERATE	148/996	I50F	OR6K3_HUMAN			Transcript		possibly_damaging(0.835)	.	ENSP00000357128					1	
ZNF257	0	LGGM	GRCh37	19	22270958	22270958	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	43	38	.	.	ENST00000594947.1:c.406T>C	p.Cys136Arg	p.C136R	ENST00000594947	NM_033468.2	136	Tgt/Cgt	0	1	1	UPI0000E045CA	0	NA	ENST00000594947		ENSG00000197134	13498		81	2.135		HGNC	p.C136R		ZNF257		SNV							ENST00000594947	protein_coding	getma.org/?cm=var&var=hg19,19,22270958,T,C&fts=all		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109		C/R		C	medium	550/3874		getma.org/?cm=msa&ty=f&p=ZN257_HUMAN&rb=45&re=186&var=C136R	deleterious(0.02)	M0R0N1_HUMAN			YES	ZNF257,missense_variant,p.Cys136Arg,ENST00000594947,NM_033468.2;ZNF257,missense_variant,p.Cys60Arg,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;							MODERATE	406/1692	C136R	ZN257_HUMAN			Transcript		benign(0.374)	.	ENSP00000470209		CCDS46030.1			1	
THSD7B	0	LGGM	GRCh37	2	138373888	138373888	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H061394	H061394N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	89	39	.	.	ENST00000272643.3:c.3574+2T>C		p.X1192_splice	ENST00000272643				0	1	1	UPI00015E0A18	0		ENST00000272643		ENSG00000144229	29348		128			HGNC	-		THSD7B		SNV							ENST00000409968	protein_coding							C		-/5942							YES	THSD7B,splice_donor_variant,,ENST00000409968,;THSD7B,splice_donor_variant,,ENST00000272643,;THSD7B,splice_donor_variant,,ENST00000413152,NM_001080427.1;THSD7B,intron_variant,,ENST00000543459,;							HIGH	3574/4830		THS7B_HUMAN			Transcript			.	ENSP00000272643					1	
RYR2	0	LGGM	GRCh37	1	237789002	237789002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	182	39	.	.	ENST00000366574.2:c.6064G>T	p.Asp2022Tyr	p.D2022Y	ENST00000366574	NM_001035.2	2022	Gat/Tat	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		221	2.255		HGNC	p.D2006Y		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237789002,G,T&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		D/Y		T	medium	6381/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1962&re=2120&var=D2022Y		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Asp2022Tyr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp2006Tyr,ENST00000542537,;RYR2,missense_variant,p.Asp2020Tyr,ENST00000360064,;							MODERATE	6064/14904	D2022Y	RYR2_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000355533		CCDS55691.1			1	
POPDC3	0	LGGM	GRCh37	6	105609686	105609686	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	64	40	.	.	ENST00000254765.3:c.99C>A	p.Ala33=	p.A33=	ENST00000254765	NM_022361.4	33	gcC/gcA	0	1	1	UPI000006FA58	0		ENST00000254765		ENSG00000132429	17649		104			HGNC	p.A33A		POPDC3		SNV							ENST00000254765	protein_coding			hmmpanther:PTHR12101,hmmpanther:PTHR12101:SF18,Transmembrane_helices:TMhelix		A		T		378/1345							YES	POPDC3,synonymous_variant,p.=,ENST00000254765,NM_022361.4;POPDC3,upstream_gene_variant,,ENST00000429112,;BVES-AS1,intron_variant,,ENST00000369122,;BVES-AS1,intron_variant,,ENST00000580511,;BVES-AS1,intron_variant,,ENST00000580854,;BVES-AS1,downstream_gene_variant,,ENST00000369120,;POPDC3,non_coding_transcript_exon_variant,,ENST00000474760,;POPDC3,non_coding_transcript_exon_variant,,ENST00000489134,;							LOW	99/876		POPD3_HUMAN			Transcript			.	ENSP00000254765		CCDS5052.1			1	
UBR4	0	LGGM	GRCh37	1	19446118	19446118	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	2	40	.	.	ENST00000375254.3:c.10388G>A	p.Arg3463His	p.R3463H	ENST00000375254	NM_020765.2	3463	cGt/cAt	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		42	1.73		HGNC	p.R3463H	rs747867083	UBR4	6.06E-05	SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19446118,C,T&fts=all		hmmpanther:PTHR21725,Superfamily_domains:SSF48371		R/H		T	low	10416/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=3331&re=3530&var=R3463H		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Arg3463His,ENST00000375267,;UBR4,missense_variant,p.Arg3463His,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Arg3456His,ENST00000375217,;UBR4,missense_variant,p.Arg3439His,ENST00000375226,;UBR4,downstream_gene_variant,,ENST00000417040,;UBR4,upstream_gene_variant,,ENST00000375218,;UBR4,downstream_gene_variant,,ENST00000425413,;UBR4,downstream_gene_variant,,ENST00000475973,;							MODERATE	10388/15552	R3463H	UBR4_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000364403	8.24E-06	CCDS189.1			1	
RPRD2	0	LGGM	GRCh37	1	150444533	150444533	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	279	46	.	.	ENST00000369068.4:c.3109G>A	p.Asp1037Asn	p.D1037N	ENST00000369068	NM_015203.3	1037	Gat/Aat	0	1	1	UPI00001D7CA8	0	NA	ENST00000369068		ENSG00000163125	29039		325	0.345		HGNC	p.D1037N	rs756169177	RPRD2		SNV							ENST00000369068	protein_coding	getma.org/?cm=var&var=hg19,1,150444533,G,A&fts=all		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0		D/N		A	neutral	3113/4612		getma.org/?cm=msa&ty=f&p=RPRD2_HUMAN&rb=744&re=1459&var=D1037N	deleterious_low_confidence(0)				YES	RPRD2,missense_variant,p.Asp1011Asn,ENST00000401000,;RPRD2,missense_variant,p.Asp1037Asn,ENST00000369068,NM_015203.3;RPRD2,downstream_gene_variant,,ENST00000539519,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;							MODERATE	3109/4386	D1037N	RPRD2_HUMAN	0.000151		Transcript		benign(0.285)	.	ENSP00000358064	8.26E-06	CCDS44216.1			1	
PDE1C	0	LGGM	GRCh37	7	31862791	31862791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	35	51	.	.	ENST00000396193.1:c.1658C>T	p.Pro553Leu	p.P553L	ENST00000396193	NM_001191058.1	553	cCg/cTg	0	1		UPI0000127BE9	0	NA	ENST00000321453		ENSG00000154678	8776		86	0		HGNC	p.P493L	COSM3638080,COSM3638079,COSM3638078	PDE1C		SNV						1,1,1	ENST00000396191	protein_coding	getma.org/?cm=var&var=hg19,7,31862791,G,A&fts=all		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF32		P/L		A	neutral	1938/2898		getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=461&re=520&var=P493L	tolerated(0.21)	Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,missense_variant,p.Pro493Leu,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Pro553Leu,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Pro493Leu,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Pro493Leu,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Pro493Leu,ENST00000396182,NM_001191056.1;PDE1C,upstream_gene_variant,,ENST00000479980,;					1,1,1		MODERATE	1478/2130	P493L	PDE1C_HUMAN			Transcript		benign(0.002)	.	ENSP00000318105		CCDS55099.1			1	
TRANK1	0	LGGM	GRCh37	3	36898700	36898700	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	125	53	.	.	ENST00000429976.2:c.2381G>T	p.Cys794Phe	p.C794F	ENST00000429976		794	tGc/tTc	0	1	1	UPI00017BE82B	0	NA	ENST00000429976		ENSG00000168016	29011		178	1.1		HGNC	p.C244F		TRANK1		SNV							ENST00000428977	protein_coding	getma.org/?cm=var&var=hg19,3,36898700,C,A&fts=all		hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529		C/F		A	low	2629/10481		getma.org/?cm=msa&ty=f&p=TRNK1_HUMAN&rb=601&re=800&var=C794F	deleterious(0)	B7WP88_HUMAN			YES	TRANK1,missense_variant,p.Cys244Phe,ENST00000301807,NM_014831.2;TRANK1,missense_variant,p.Cys794Phe,ENST00000429976,;TRANK1,missense_variant,p.Cys244Phe,ENST00000428977,;TRANK1,downstream_gene_variant,,ENST00000513141,;							MODERATE	2381/8778	C794F	TRNK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000416168		CCDS46789.2			1	
RGSL1	0	LGGM	GRCh37	1	182501822	182501822	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	139	56	.	.	ENST00000294854.8:c.2390G>A	p.Ser797Asn	p.S797N	ENST00000294854	NM_001137669.1	797	aGc/aAc	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		195	1.905		HGNC	p.S797N		RGSL1		SNV							ENST00000294854	protein_coding	getma.org/?cm=var&var=hg19,1,182501822,G,A&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		S/N		A	medium	2410/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=756&re=955&var=S797N	tolerated(0.72)	H3BNQ0_HUMAN			YES	RGSL1,missense_variant,p.Ser797Asn,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.Ser832Asn,ENST00000542961,;RGSL1,non_coding_transcript_exon_variant,,ENST00000456971,;RGSL1,missense_variant,p.Ser832Asn,ENST00000443996,;RGSL1,3_prime_UTR_variant,,ENST00000415960,;RGSL1,non_coding_transcript_exon_variant,,ENST00000436031,;							MODERATE	2390/3231	S797N	RGSL_HUMAN			Transcript		benign(0.015)	.	ENSP00000457748		CCDS58049.1			1	
SLC25A13	0	LGGM	GRCh37	7	95751055	95751055	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	58	66	.	.	ENST00000416240.2:c.1756C>T	p.Arg586Cys	p.R586C	ENST00000416240	NM_014251.2	586	Cgt/Tgt	0	1		UPI0000127BC3	0	getma.org/pdb.php?prot=CMC2_HUMAN&from=516&to=611&var=R585C	ENST00000265631		ENSG00000004864	10983		124	2.055		HGNC	p.R585C	rs370997026,COSM1093383	SLC25A13		SNV	A:0.0002		1	9.68E-05		0,1	ENST00000265631	protein_coding	getma.org/?cm=var&var=hg19,7,95751055,G,A&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265		R/C	A:0	A	medium	1890/3136		getma.org/?cm=msa&ty=f&p=CMC2_HUMAN&rb=516&re=611&var=R585C	deleterious(0.05)	Q75KX8_HUMAN				SLC25A13,missense_variant,p.Arg586Cys,ENST00000416240,NM_014251.2,NM_001160210.1;SLC25A13,missense_variant,p.Arg585Cys,ENST00000265631,;SLC25A13,missense_variant,p.Arg477Cys,ENST00000542654,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000494085,;					0,1		MODERATE	1753/2028	R585C	CMC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265631	8.24E-06	CCDS5645.1			1	
PLA2G1B	0	LGGM	GRCh37	12	120760073	120760073	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061394	H061394N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	74	66	.	.	ENST00000308366.4:c.370G>A	p.Ala124Thr	p.A124T	ENST00000308366	NM_000928.2	124	Gct/Act	0	1	1	UPI0000048FD9	0	getma.org/pdb.php?prot=PA21B_HUMAN&from=23&to=146&var=A124T	ENST00000308366		ENSG00000170890	9030		140	3.31		HGNC	p.A124T	rs369316608	PLA2G1B		SNV	T:0.0002			9.61E-05			ENST00000308366	protein_coding	getma.org/?cm=var&var=hg19,12,120760073,C,T&fts=all		Gene3D:1.20.90.10,Pfam_domain:PF00068,Prints_domain:PR00389,PROSITE_patterns:PS00119,hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF4,SMART_domains:SM00085,Superfamily_domains:SSF48619		A/T	T:0	T	medium	406/565		getma.org/?cm=msa&ty=f&p=PA21B_HUMAN&rb=23&re=146&var=A124T	deleterious(0)	F8W062_HUMAN			YES	PLA2G1B,missense_variant,p.Ala124Thr,ENST00000308366,NM_000928.2;PLA2G1B,missense_variant,p.Ala95Thr,ENST00000549767,;PLA2G1B,3_prime_UTR_variant,,ENST00000423423,;							MODERATE	370/447	A124T	PA21B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000312286	8.24E-06	CCDS9195.1			1	
SPHKAP	0	LGGM	GRCh37	2	228884681	228884681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061394	H061394N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	39	73	.	.	ENST00000392056.3:c.889C>A	p.Gln297Lys	p.Q297K	ENST00000392056	NM_001142644.1	297	Cag/Aag	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		112	1.59		HGNC	p.Q297K	COSM720338,COSM720337	SPHKAP		SNV						1,1	ENST00000392056	protein_coding	getma.org/?cm=var&var=hg19,2,228884681,G,T&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		Q/K		T	low	936/6917		getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=201&re=400&var=Q297K	tolerated(0.23)				YES	SPHKAP,missense_variant,p.Gln297Lys,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Gln297Lys,ENST00000344657,NM_030623.3;					1,1		MODERATE	889/5103	Q297K	SPKAP_HUMAN			Transcript		benign(0.002)	.	ENSP00000375909		CCDS46537.1			1	
PZP	0	LGGM	GRCh37	12	9353506	9353506	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061394	H061394N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061394N.bam, H061394T.bam	Illumina HiSeq	62	81	.	.	ENST00000261336.2:c.652T>G	p.Phe218Val	p.F218V	ENST00000261336	NM_002864.2	218	Ttc/Gtc	0	1	1	UPI000013D168	0	getma.org/pdb.php?prot=PZP_HUMAN&from=127&to=220&var=F218V	ENST00000261336		ENSG00000126838	9750		143	4.03		HGNC	p.F218V		PZP		SNV							ENST00000261336	protein_coding	getma.org/?cm=var&var=hg19,12,9353506,A,C&fts=all		Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87		F/V		C	high	681/4610		getma.org/?cm=msa&ty=f&p=PZP_HUMAN&rb=127&re=220&var=F218V	deleterious(0.01)				YES	PZP,missense_variant,p.Phe218Val,ENST00000261336,NM_002864.2;PZP,missense_variant,p.Phe87Val,ENST00000381997,;PZP,3_prime_UTR_variant,,ENST00000535230,;							MODERATE	652/4449	F218V	PZP_HUMAN			Transcript		possibly_damaging(0.527)	.	ENSP00000261336		CCDS8600.1			1	
CLECL1P	0	LGGM	GRCh37	12	9875371	9875371	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	32	3	.	.	ENST00000327839.3:c.355G>T	p.Ala119Ser	p.A119S	ENST00000327839	NM_172004.3	119	Gcc/Tcc	0	1	1	UPI00000740B2	0	getma.org/pdb.php?prot=CLCL1_HUMAN&from=116&to=167&var=A119S	ENST00000327839		ENSG00000184293	24462		35	-1.1		HGNC	p.A119S		CLECL1		SNV							ENST00000327839	protein_coding	getma.org/?cm=var&var=hg19,12,9875371,C,A&fts=all		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF132,Gene3D:3.10.100.10,Superfamily_domains:SSF56436		A/S		A	neutral	390/670		getma.org/?cm=msa&ty=f&p=CLCL1_HUMAN&rb=116&re=167&var=A119S	tolerated(1)				YES	CLECL1,missense_variant,p.Ala119Ser,ENST00000327839,NM_172004.3;CLECL1,missense_variant,p.Ala71Ser,ENST00000542530,;CLECL1,upstream_gene_variant,,ENST00000540988,NM_001253750.1;							MODERATE	355/504	A119S	CLCL1_HUMAN			Transcript		benign(0.023)	.	ENSP00000331766		CCDS8603.1			1	
PIGT	0	LGGM	GRCh37	20	44054238	44054238	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	24	3	.	.	ENST00000279036.6:c.1509C>G	p.Asn503Lys	p.N503K	ENST00000279036	NM_015937.5	503	aaC/aaG	0	1	1	UPI000003B0D0	0	NA	ENST00000279036		ENSG00000124155	14938		27	0.75		HGNC	p.N348K		PIGT		SNV			1				ENST00000535404	protein_coding	getma.org/?cm=var&var=hg19,20,44054238,C,G&fts=all		Pfam_domain:PF04113,hmmpanther:PTHR12959,hmmpanther:PTHR12959:SF11		N/K		G	neutral	1589/2235		getma.org/?cm=msa&ty=f&p=PIGT_HUMAN&rb=248&re=572&var=N503K	tolerated(0.13)	B7Z1N3_HUMAN			YES	PIGT,missense_variant,p.Asn503Lys,ENST00000279036,NM_015937.5;PIGT,missense_variant,p.Asn447Lys,ENST00000543458,NM_001184728.2;PIGT,missense_variant,p.Asn436Lys,ENST00000372689,NM_001184729.2;PIGT,missense_variant,p.Asn401Lys,ENST00000279035,NM_001184730.2;PIGT,missense_variant,p.Asn348Lys,ENST00000535404,;PIGT,missense_variant,p.Asn309Lys,ENST00000341555,;PIGT,missense_variant,p.Asn241Lys,ENST00000545755,;PIGT,3_prime_UTR_variant,,ENST00000455050,;							MODERATE	1509/1737	N503K	PIGT_HUMAN			Transcript		benign(0.065)	.	ENSP00000279036		CCDS13353.1			1	
GRM4	0	LGGM	GRCh37	6	34100963	34100963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	20	3	.	.	ENST00000538487.2:c.311G>A	p.Arg104His	p.R104H	ENST00000538487	NM_000841.2	104	cGc/cAc	0	1	1	UPI000004A7DE	0	getma.org/pdb.php?prot=GRM4_HUMAN&from=77&to=482&var=R104H	ENST00000538487		ENSG00000124493	4596		23	0.895		HGNC	p.R104H	COSM1078217,COSM1078218	GRM4		SNV						1,1	ENST00000374181	protein_coding	getma.org/?cm=var&var=hg19,6,34100963,C,T&fts=all		hmmpanther:PTHR24060:SF23,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248		R/H		T	low	755/4153		getma.org/?cm=msa&ty=f&p=GRM4_HUMAN&rb=77&re=482&var=R104H	tolerated(0.81)	A8K0J8_HUMAN,A1L4F9_HUMAN			YES	GRM4,missense_variant,p.Arg104His,ENST00000538487,NM_000841.2,NM_001256811.1;GRM4,missense_variant,p.Arg104His,ENST00000374181,;GRM4,intron_variant,,ENST00000374177,NM_001256809.1;GRM4,missense_variant,p.Arg104His,ENST00000609278,NM_001282847.1;GRM4,non_coding_transcript_exon_variant,,ENST00000607916,;GRM4,upstream_gene_variant,,ENST00000609973,;					1,1		MODERATE	311/2739	R104H	GRM4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000440556		CCDS4787.1			1	
C1orf53	0	LGGM	GRCh37	1	197871973	197871973	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	3	3	.	.	ENST00000367393.3:c.194G>T	p.Arg65Met	p.R65M	ENST00000367393	NM_001024594.2	65	aGg/aTg	0	1	1	UPI00001AFA8A	0	NA	ENST00000367393		ENSG00000203724	30003		6	1.39		HGNC	p.R65M		C1orf53		SNV							ENST00000367393	protein_coding	getma.org/?cm=var&var=hg19,1,197871973,G,T&fts=all		hmmpanther:PTHR21037		R/M		T	low	197/588		getma.org/?cm=msa&ty=f&p=CA053_HUMAN&rb=1&re=144&var=R65M	deleterious(0.05)				YES	C1orf53,missense_variant,p.Arg65Met,ENST00000367393,NM_001024594.2;C1orf53,missense_variant,p.Arg23Met,ENST00000436652,;C1orf53,upstream_gene_variant,,ENST00000542800,;							MODERATE	194/438	R65M	CA053_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000356363		CCDS44290.1			1	
PKD1	0	LGGM	GRCh37	16	2140579	2140579	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	8	4	.	.	ENST00000262304.4:c.12151T>A	p.Cys4051Ser	p.C4051S	ENST00000262304	NM_001009944.2	4051	Tgt/Agt	0	1	1	UPI00001B0454	0	NA	ENST00000262304		ENSG00000008710	9008		12	1.355		HGNC	p.C4050S		PKD1		SNV			1				ENST00000423118	protein_coding	getma.org/?cm=var&var=hg19,16,2140579,A,T&fts=all		hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Pfam_domain:PF08016		C/S		T	low	12360/14138		getma.org/?cm=msa&ty=f&p=PKD1_HUMAN&rb=3711&re=4113&var=C4051S		O75276_HUMAN			YES	PKD1,missense_variant,p.Cys4051Ser,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Cys4050Ser,ENST00000423118,NM_000296.3;TSC2,downstream_gene_variant,,ENST00000219476,NM_000548.3;TSC2,downstream_gene_variant,,ENST00000350773,NM_001114382.1;TSC2,downstream_gene_variant,,ENST00000353929,;TSC2,downstream_gene_variant,,ENST00000568454,;TSC2,downstream_gene_variant,,ENST00000401874,NM_001077183.1;TSC2,downstream_gene_variant,,ENST00000439673,;TSC2,downstream_gene_variant,,ENST00000382538,;TSC2,downstream_gene_variant,,ENST00000569110,;MIR1225,upstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.3,downstream_gene_variant,,ENST00000565937,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;PKD1,non_coding_transcript_exon_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000487932,;TSC2,downstream_gene_variant,,ENST00000439117,;TSC2,downstream_gene_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000569930,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000472659,;PKD1,downstream_gene_variant,,ENST00000562425,;PKD1,downstream_gene_variant,,ENST00000567355,;PKD1,downstream_gene_variant,,ENST00000564313,;PKD1,downstream_gene_variant,,ENST00000568796,;							MODERATE	12151/12912	C4051S	PKD1_HUMAN			Transcript		benign(0.06)	.	ENSP00000262304		CCDS32369.1			1	
HTR1B	0	LGGM	GRCh37	6	78172773	78172773	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	38	4	.	.	ENST00000369947.2:c.348A>T	p.Thr116=	p.T116=	ENST00000369947	NM_000863.1	116	acA/acT	0	1	1	UPI00000007CB	0		ENST00000369947		ENSG00000135312	5287		42			HGNC	p.T116T		HTR1B		SNV							ENST00000369947	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF16,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		T		A		718/1543							YES	HTR1B,synonymous_variant,p.=,ENST00000369947,NM_000863.1;							LOW	348/1173		5HT1B_HUMAN			Transcript			.	ENSP00000358963		CCDS4986.1			1	
APBA2	0	LGGM	GRCh37	15	29397661	29397661	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	10	4	.	.	ENST00000558402.1:c.1604C>T	p.Pro535Leu	p.P535L	ENST00000558402		535	cCc/cTc	0	1		UPI0000046798	0	getma.org/pdb.php?prot=APBA2_HUMAN&from=368&to=555&var=P535L	ENST00000558259		ENSG00000034053	579		14	2.095		HGNC	p.P523L		APBA2		SNV							ENST00000558330	protein_coding	getma.org/?cm=var&var=hg19,15,29397661,C,T&fts=all		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,PROSITE_profiles:PS01179		P/L		T	medium	1811/3635		getma.org/?cm=msa&ty=f&p=APBA2_HUMAN&rb=368&re=555&var=P535L	deleterious(0)	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN				APBA2,missense_variant,p.Pro535Leu,ENST00000558402,;APBA2,missense_variant,p.Pro535Leu,ENST00000558259,NM_005503.3;APBA2,missense_variant,p.Pro523Leu,ENST00000411764,NM_001130414.1;APBA2,missense_variant,p.Pro523Leu,ENST00000558330,;APBA2,missense_variant,p.Pro535Leu,ENST00000561069,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,downstream_gene_variant,,ENST00000382938,;							MODERATE	1604/2250	P535L	APBA2_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000454171		CCDS10022.1			1	
HHAT	0	LGGM	GRCh37	1	210573823	210573823	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	12	5	.	.	ENST00000545154.1:c.288G>T	p.Trp96Cys	p.W96C	ENST00000545154	NM_001170587.1	96	tgG/tgT	0	1		UPI000004A086	0	NA	ENST00000261458		ENSG00000054392	18270		17	2.045		HGNC	p.W95C		HHAT		SNV			1				ENST00000367010	protein_coding	getma.org/?cm=var&var=hg19,1,210573823,G,T&fts=all		hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20		W/C		T	medium	480/3594		getma.org/?cm=msa&ty=f&p=HHAT_HUMAN&rb=1&re=124&var=W95C	tolerated(0.21)	F5H2Y1_HUMAN,B1AK61_HUMAN				HHAT,missense_variant,p.Trp95Cys,ENST00000367010,NM_001170580.1;HHAT,missense_variant,p.Trp95Cys,ENST00000261458,NM_018194.4;HHAT,missense_variant,p.Trp95Cys,ENST00000413764,NM_001122834.2;HHAT,missense_variant,p.Trp96Cys,ENST00000545154,NM_001170587.1;HHAT,missense_variant,p.Trp95Cys,ENST00000391905,;HHAT,missense_variant,p.Trp50Cys,ENST00000308852,;HHAT,missense_variant,p.Trp32Cys,ENST00000545781,;HHAT,intron_variant,,ENST00000537898,NM_001170588.1;HHAT,intron_variant,,ENST00000541565,NM_001170564.1;HHAT,intron_variant,,ENST00000426968,;							MODERATE	285/1482	W95C	HHAT_HUMAN			Transcript		benign(0.019)	.	ENSP00000261458		CCDS1495.1			1	
POU6F2	0	LGGM	GRCh37	7	39500265	39500265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	25	6	.	.	ENST00000403058.1:c.1522G>T	p.Ala508Ser	p.A508S	ENST00000403058	NM_001166018.1	508	Gct/Tct	0	1	1	UPI0000480E81	0	getma.org/pdb.php?prot=PO6F2_HUMAN&from=476&to=529&var=A508S	ENST00000403058		ENSG00000106536	21694		31	2		HGNC	p.A508S	rs770259853,COSM485314	POU6F2		SNV			1	0.000142		0,1	ENST00000518318	protein_coding	getma.org/?cm=var&var=hg19,7,39500265,G,T&fts=all		PROSITE_profiles:PS51179,hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636,Pfam_domain:PF00157,Gene3D:1.10.260.40,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028		A/S		T	medium	1676/2335	0.000221	getma.org/?cm=msa&ty=f&p=PO6F2_HUMAN&rb=476&re=529&var=A508S	deleterious(0.01)	H0YL15_HUMAN			YES	POU6F2,missense_variant,p.Ala508Ser,ENST00000518318,;POU6F2,missense_variant,p.Ala453Ser,ENST00000559001,;POU6F2,missense_variant,p.Ala508Ser,ENST00000403058,NM_001166018.1,NM_007252.3;POU6F2,upstream_gene_variant,,ENST00000426456,;POU6F2,3_prime_UTR_variant,,ENST00000416452,;	0.00132				0,1		MODERATE	1522/2076	A508S	PO6F2_HUMAN	0.00048		Transcript		unknown(0)	common_variant	ENSP00000384004	0.000313	CCDS34620.2			1	
TOR1AIP1	0	LGGM	GRCh37	1	179883145	179883145	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	48	6	.	.	ENST00000606911.2:c.920T>C	p.Leu307Pro	p.L307P	ENST00000606911		307	cTg/cCg	0	1	1	UPI0000203C95	0	NA	ENST00000606911		ENSG00000143337	29456		54	0		HGNC	p.L308P		TOR1AIP1		SNV			1				ENST00000528443	protein_coding	getma.org/?cm=var&var=hg19,1,179883145,T,C&fts=all		Pfam_domain:PF05609,hmmpanther:PTHR18843,hmmpanther:PTHR18843:SF3		L/P		C	neutral	1111/8704		getma.org/?cm=msa&ty=f&p=TOIP1_HUMAN&rb=122&re=583&var=L307P	deleterious(0.02)				YES	TOR1AIP1,missense_variant,p.Leu307Pro,ENST00000606911,;TOR1AIP1,missense_variant,p.Leu308Pro,ENST00000528443,NM_001267578.1,NM_015602.3;TOR1AIP1,missense_variant,p.Leu186Pro,ENST00000435319,;TOR1AIP1,missense_variant,p.Leu323Pro,ENST00000271583,;TOR1AIP1,missense_variant,p.Leu184Pro,ENST00000527391,;TOR1AIP1,intron_variant,,ENST00000447964,;TOR1AIP1,downstream_gene_variant,,ENST00000531630,;TOR1AIP1,non_coding_transcript_exon_variant,,ENST00000474875,;							MODERATE	920/1752	L307P				Transcript		benign(0.002)	.	ENSP00000476687		CCDS1335.1			1	
DLGAP5	0	LGGM	GRCh37	14	55655806	55655806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	17	6	.	.	ENST00000247191.2:c.92A>G	p.Gln31Arg	p.Q31R	ENST00000247191	NM_014750.4	31	cAg/cGg	0	1	1	UPI000013CC13	0	NA	ENST00000247191		ENSG00000126787	16864		23	2.32		HGNC	p.Q31R		DLGAP5		SNV							ENST00000395425	protein_coding	getma.org/?cm=var&var=hg19,14,55655806,T,C&fts=all		Coiled-coils_(Ncoils):Coil		Q/R		C	medium	309/2973		getma.org/?cm=msa&ty=f&p=DLGP5_HUMAN&rb=1&re=200&var=Q31R	deleterious(0.01)	G3V543_HUMAN,G3V4E5_HUMAN			YES	DLGAP5,missense_variant,p.Gln31Arg,ENST00000247191,NM_014750.4;DLGAP5,missense_variant,p.Gln31Arg,ENST00000395425,NM_001146015.1;DLGAP5,missense_variant,p.Gln31Arg,ENST00000557645,;DLGAP5,missense_variant,p.Gln31Arg,ENST00000554067,;							MODERATE	92/2541	Q31R	DLGP5_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000247191		CCDS9723.1			1	
ZNF354B	0	LGGM	GRCh37	5	178310441	178310441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	19	7	.	.	ENST00000322434.3:c.988C>T	p.Pro330Ser	p.P330S	ENST00000322434	NM_058230.2	330	Cca/Tca	0	1	1	UPI0000071A24	0	NA	ENST00000322434		ENSG00000178338	17197		26	-1.04		HGNC	p.P330S		ZNF354B		SNV							ENST00000322434	protein_coding	getma.org/?cm=var&var=hg19,5,178310441,C,T&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87,Superfamily_domains:SSF57667		P/S		T	neutral	1214/2802		getma.org/?cm=msa&ty=f&p=Z354B_HUMAN&rb=321&re=367&var=P330S	deleterious(0.01)	E5RH89_HUMAN			YES	ZNF354B,missense_variant,p.Pro330Ser,ENST00000322434,NM_058230.2;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;							MODERATE	988/1839	P330S	Z354B_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000327143		CCDS4439.1			1	
WDR13	0	LGGM	GRCh37	X	48457987	48457987	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	20	7	.	.	ENST00000218056.5:c.405C>T	p.Ser135=	p.S135=	ENST00000218056	NM_001166426.1	135	agC/agT	0	1	1	UPI00001AE60C	0		ENST00000218056		ENSG00000101940	14352		27			HGNC	p.S135S	COSM4109768,COSM4109769	WDR13		SNV						1,1	ENST00000218056	protein_coding			hmmpanther:PTHR22838,hmmpanther:PTHR22838:SF1		S		T		910/2124							YES	WDR13,synonymous_variant,p.=,ENST00000218056,NM_001166426.1,NM_017883.4;WDR13,synonymous_variant,p.=,ENST00000376729,;WDR13,splice_region_variant,,ENST00000492715,;WDR13,splice_region_variant,,ENST00000466962,;WDR13,non_coding_transcript_exon_variant,,ENST00000479279,;WDR13,non_coding_transcript_exon_variant,,ENST00000471334,;WDR13,non_coding_transcript_exon_variant,,ENST00000486125,;WDR13,non_coding_transcript_exon_variant,,ENST00000497756,;WDR13,non_coding_transcript_exon_variant,,ENST00000498631,;WDR13,non_coding_transcript_exon_variant,,ENST00000495575,;WDR13,upstream_gene_variant,,ENST00000482760,;WDR13,upstream_gene_variant,,ENST00000492873,;WDR13,downstream_gene_variant,,ENST00000470124,;WDR13,downstream_gene_variant,,ENST00000472440,;					1,1		LOW	405/1458		WDR13_HUMAN			Transcript			.	ENSP00000218056		CCDS14302.1			1	
SCRN2	0	LGGM	GRCh37	17	45918039	45918039	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	15	7	.	.	ENST00000290216.9:c.171C>A	p.Leu57=	p.L57=	ENST00000290216	NM_001145023.1	57	ctC/ctA	0	1	1	UPI000013DFCB	0		ENST00000290216		ENSG00000141295	30381		22			HGNC	p.L57L		SCRN2		SNV							ENST00000290216	protein_coding			hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF16		L		T		297/1548				J3QR84_HUMAN			YES	SCRN2,synonymous_variant,p.=,ENST00000407215,;SCRN2,synonymous_variant,p.=,ENST00000584123,;SCRN2,synonymous_variant,p.=,ENST00000290216,NM_001145023.1,NM_138355.3;SCRN2,synonymous_variant,p.=,ENST00000578323,;SP6,downstream_gene_variant,,ENST00000536300,NM_001258248.1;SP6,downstream_gene_variant,,ENST00000342234,NM_199262.2;LRRC46,downstream_gene_variant,,ENST00000269025,NM_033413.3;SCRN2,upstream_gene_variant,,ENST00000584567,;SCRN2,synonymous_variant,p.=,ENST00000582459,;SCRN2,synonymous_variant,p.=,ENST00000581645,;SCRN2,synonymous_variant,p.=,ENST00000579856,;SCRN2,synonymous_variant,p.=,ENST00000583090,;SCRN2,non_coding_transcript_exon_variant,,ENST00000581546,;SCRN2,non_coding_transcript_exon_variant,,ENST00000578840,;SCRN2,non_coding_transcript_exon_variant,,ENST00000580428,;LRRC46,downstream_gene_variant,,ENST00000584580,;LRRC46,downstream_gene_variant,,ENST00000579971,;LRRC46,downstream_gene_variant,,ENST00000579742,;SCRN2,upstream_gene_variant,,ENST00000582656,;							LOW	171/1278		SCRN2_HUMAN			Transcript			.	ENSP00000290216		CCDS11519.1			1	
NDST4	0	LGGM	GRCh37	4	115998097	115998097	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	4	7	.	.	ENST00000264363.2:c.96T>C	p.Phe32=	p.F32=	ENST00000264363	NM_022569.1	32	ttT/ttC	0	1	1	UPI000006CED7	0		ENST00000264363		ENSG00000138653	20779		11			HGNC	p.F32F		NDST4		SNV							ENST00000264363	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF12062		F		G		775/3351							YES	NDST4,synonymous_variant,p.=,ENST00000264363,NM_022569.1;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;							LOW	96/2619		NDST4_HUMAN			Transcript			.	ENSP00000264363		CCDS3706.1			1	
SLC16A14	0	LGGM	GRCh37	2	230911407	230911407	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	13	7	.	.	ENST00000295190.4:c.435G>A	p.Ala145=	p.A145=	ENST00000295190	NM_152527.4	145	gcG/gcA	0	1	1	UPI000004EE99	0		ENST00000295190		ENSG00000163053	26417		20			HGNC	p.A145A		SLC16A14		SNV							ENST00000295190	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF121,hmmpanther:PTHR11360,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		A		T		894/4390				C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN			YES	SLC16A14,synonymous_variant,p.=,ENST00000295190,NM_152527.4;SLC16A14,synonymous_variant,p.=,ENST00000457406,;SLC16A14,synonymous_variant,p.=,ENST00000412034,;							LOW	435/1533		MOT14_HUMAN			Transcript			.	ENSP00000295190		CCDS2473.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	42	9	.	.	ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37C	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		51	2.485		HGNC	p.S37C	rs121913403,COSM5679	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266113,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	390/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	110/2346	S37C	CTNB1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000344456		CCDS2694.1			1	
TYROBP	0	LGGM	GRCh37	19	36398364	36398364	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	19	8	.	.	ENST00000262629.4:c.213G>A	p.Gly71=	p.G71=	ENST00000262629	NM_198125.2	71	ggG/ggA	0	1	1	UPI000013787B	0		ENST00000262629		ENSG00000011600	12449		27			HGNC	p.G71G		TYROBP		SNV			1				ENST00000589517	protein_coding			hmmpanther:PTHR17554		G		T		280/568							YES	TYROBP,synonymous_variant,p.=,ENST00000585901,;TYROBP,synonymous_variant,p.=,ENST00000262629,NM_198125.2,NM_003332.3;TYROBP,synonymous_variant,p.=,ENST00000424586,NM_001173515.1,NM_001173514.1;TYROBP,synonymous_variant,p.=,ENST00000544690,;TYROBP,synonymous_variant,p.=,ENST00000589517,;HCST,downstream_gene_variant,,ENST00000246551,;HCST,downstream_gene_variant,,ENST00000437550,NM_014266.3,NM_001007469.1;TYROBP,3_prime_UTR_variant,,ENST00000587837,;TYROBP,3_prime_UTR_variant,,ENST00000586946,;TYROBP,non_coding_transcript_exon_variant,,ENST00000588439,;TYROBP,non_coding_transcript_exon_variant,,ENST00000585626,;							LOW	213/342		TYOBP_HUMAN			Transcript			.	ENSP00000262629		CCDS12482.1			1	
NME5	0	LGGM	GRCh37	5	137464988	137464988	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	30	8	.	.	ENST00000265191.2:c.299A>C	p.Asn100Thr	p.N100T	ENST00000265191	NM_003551.2	100	aAt/aCt	0	1	1	UPI000000129C	0	getma.org/pdb.php?prot=NDK5_HUMAN&from=13&to=147&var=N100T	ENST00000265191		ENSG00000112981	7853		38	-4.285		HGNC	p.N100T		NME5		SNV							ENST00000265191	protein_coding	getma.org/?cm=var&var=hg19,5,137464988,T,G&fts=all		hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF52,Gene3D:3.30.70.141,Pfam_domain:PF00334,PIRSF_domain:PIRSF036504,SMART_domains:SM00562,Superfamily_domains:SSF54919		N/T		G	neutral	349/1193		getma.org/?cm=msa&ty=f&p=NDK5_HUMAN&rb=13&re=147&var=N100T	tolerated(1)				YES	NME5,missense_variant,p.Asn100Thr,ENST00000265191,NM_003551.2;NME5,non_coding_transcript_exon_variant,,ENST00000508252,;NME5,upstream_gene_variant,,ENST00000506657,;NME5,downstream_gene_variant,,ENST00000511353,;							MODERATE	299/639	N100T	NDK5_HUMAN			Transcript		benign(0)	.	ENSP00000265191		CCDS4197.1			1	
SSTR4	0	LGGM	GRCh37	20	23017281	23017281	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	15	8	.	.	ENST00000255008.3:c.1161C>A	p.Thr387=	p.T387=	ENST00000255008	NM_001052.2	387	acC/acA	0	1	1	UPI000013CE7A	0		ENST00000255008		ENSG00000132671	11333		23			HGNC	p.T387T		SSTR4		SNV							ENST00000255008	protein_coding					T		A		1225/1258							YES	SSTR4,synonymous_variant,p.=,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;							LOW	1161/1167		SSR4_HUMAN			Transcript			.	ENSP00000255008		CCDS42856.1			1	
CFHR5	0	LGGM	GRCh37	1	196977781	196977781	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	67	8	.	.	ENST00000256785.4:c.1678G>A	p.Glu560Lys	p.E560K	ENST00000256785		560	Gaa/Aaa	0	1	1	UPI0000043814	0	getma.org/pdb.php?prot=FHR5_HUMAN&from=507&to=569&var=E560K	ENST00000256785		ENSG00000134389	24668	8.65E-05	75	2.095		HGNC	p.E560K	rs779087611	CFHR5		SNV			1	9.62E-05			ENST00000256785	protein_coding	getma.org/?cm=var&var=hg19,1,196977781,G,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,SMART_domains:SM00032,Superfamily_domains:SSF57535		E/K		A	medium	1787/2810		getma.org/?cm=msa&ty=f&p=FHR5_HUMAN&rb=507&re=569&var=E560K	deleterious(0.02)				YES	CFHR5,missense_variant,p.Glu584Lys,ENST00000367414,NM_030787.3;CFHR5,missense_variant,p.Glu560Lys,ENST00000256785,;							MODERATE	1678/1710	E560K	FHR5_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000256785	1.65E-05	CCDS1387.1			1	
PGBD5	0	LGGM	GRCh37	1	230492721	230492721	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	15	9	.	.	ENST00000525115.1:c.471G>A	p.Thr157=	p.T157=	ENST00000525115		157	acG/acA	0	1	1	UPI0001D34147	0		ENST00000525115		ENSG00000177614	19405		24			HGNC	p.T256T	rs753899757	PGBD5		SNV							ENST00000321327	protein_coding			Pfam_domain:PF13843		T		T		495/1569	3.00E-05						YES	PGBD5,synonymous_variant,p.=,ENST00000321327,;PGBD5,synonymous_variant,p.=,ENST00000391860,NM_001258311.1;PGBD5,synonymous_variant,p.=,ENST00000525115,;							LOW	471/1368		PGBD5_HUMAN			Transcript			.	ENSP00000431404	1.65E-05				1	
TP73	0	LGGM	GRCh37	1	3643728	3643728	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	5	9	.	.	ENST00000378295.4:c.782G>A	p.Ser261Asn	p.S261N	ENST00000378295	NM_005427.3	261	aGc/aAc	0	1	1	UPI000002E988	0	getma.org/pdb.php?prot=P73_HUMAN&from=113&to=309&var=S261N	ENST00000378295		ENSG00000078900	12003		14	3.16		HGNC	p.S212N		TP73		SNV							ENST00000378285	protein_coding	getma.org/?cm=var&var=hg19,1,3643728,G,A&fts=all		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF21,PROSITE_patterns:PS00348,Pfam_domain:PF00870,Gene3D:2.60.40.720,Superfamily_domains:SSF49417,Prints_domain:PR00386		S/N		A	medium	937/5188		getma.org/?cm=msa&ty=f&p=P73_HUMAN&rb=113&re=309&var=S261N	deleterious(0)	B7Z3B4_HUMAN			YES	TP73,missense_variant,p.Ser261Asn,ENST00000378295,NM_005427.3,NM_001204185.1;TP73,missense_variant,p.Ser212Asn,ENST00000378288,NM_001126240.2;TP73,missense_variant,p.Ser261Asn,ENST00000604074,NM_001204186.1,NM_001204189.1;TP73,missense_variant,p.Ser261Asn,ENST00000357733,NM_001204187.1;TP73,missense_variant,p.Ser261Asn,ENST00000346387,NM_001204188.1;TP73,missense_variant,p.Ser261Asn,ENST00000354437,NM_001204184.1;TP73,missense_variant,p.Ser212Asn,ENST00000378285,NM_001126241.2;TP73,missense_variant,p.Ser212Asn,ENST00000378280,NM_001204190.1,NM_001204191.1,NM_001126242.2;TP73,missense_variant,p.Ser190Asn,ENST00000378290,NM_001204192.1;TP73,missense_variant,p.Ser261Asn,ENST00000603362,;TP73,missense_variant,p.Ser261Asn,ENST00000604479,;TP73,non_coding_transcript_exon_variant,,ENST00000603364,;TP73,upstream_gene_variant,,ENST00000604566,;							MODERATE	782/1911	S261N	P73_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000367545		CCDS49.1			1	
CLDN16	0	LGGM	GRCh37	3	190105987	190105987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	11	10	.	.	ENST00000264734.2:c.79G>T	p.Val27Leu	p.V27L	ENST00000264734	NM_006580.3	27	Gtg/Ttg	0	1	1	UPI0000127AB8	0	NA	ENST00000264734		ENSG00000113946	2037		21	0.345		HGNC	p.V27L		CLDN16		SNV			1				ENST00000456423	protein_coding	getma.org/?cm=var&var=hg19,3,190105987,G,T&fts=all				V/L		T	neutral	327/3273		getma.org/?cm=msa&ty=f&p=CLD16_HUMAN&rb=1&re=30&var=V27L	tolerated_low_confidence(0.09)				YES	CLDN16,missense_variant,p.Val27Leu,ENST00000264734,NM_006580.3;CLDN16,missense_variant,p.Val27Leu,ENST00000456423,;CLDN16,intron_variant,,ENST00000468220,;							MODERATE	79/918	V27L	CLD16_HUMAN			Transcript		benign(0.148)	.	ENSP00000264734		CCDS3296.1			1	
KRT32	0	LGGM	GRCh37	17	39620642	39620642	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	12	11	.	.	ENST00000225899.3:c.762C>T	p.Asp254=	p.D254=	ENST00000225899	NM_002278.3	254	gaC/gaT	0	1	1	UPI000013C883	0		ENST00000225899		ENSG00000108759	6449		23			HGNC	p.D254D	rs762739064	KRT32	0.00021	SNV							ENST00000225899	protein_coding			hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01248		D		A		866/1750	3.07E-05						YES	KRT32,synonymous_variant,p.=,ENST00000225899,NM_002278.3;RNU2-32P,upstream_gene_variant,,ENST00000411193,;							LOW	762/1347		K1H2_HUMAN			Transcript			.	ENSP00000225899	4.94E-05	CCDS11393.1	0.00116		1	
ARL14EP	0	LGGM	GRCh37	11	30352502	30352502	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	11	11	.	.	ENST00000282032.3:c.7G>T	p.Asp3Tyr	p.D3Y	ENST00000282032	NM_152316.1	3	Gat/Tat	0	1	1	UPI000000DC5B	0	NA	ENST00000282032		ENSG00000152219	26798		22	1.245		HGNC	p.D3Y	COSM352363	ARL14EP		SNV						1	ENST00000530909	protein_coding	getma.org/?cm=var&var=hg19,11,30352502,G,T&fts=all		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF72		D/Y		T	low	222/2430		getma.org/?cm=msa&ty=f&p=AR7EP_HUMAN&rb=1&re=200&var=D3Y	deleterious_low_confidence(0.01)	E9PRK7_HUMAN			YES	ARL14EP,missense_variant,p.Asp3Tyr,ENST00000530909,;ARL14EP,missense_variant,p.Asp3Tyr,ENST00000282032,NM_152316.1;ARL14EP,upstream_gene_variant,,ENST00000533457,;ARL14EP,non_coding_transcript_exon_variant,,ENST00000532047,;					1		MODERATE	7/783	D3Y	AL14E_HUMAN			Transcript		possibly_damaging(0.463)	.	ENSP00000282032		CCDS7869.1			1	
DOCK7	0	LGGM	GRCh37	1	62971468	62971468	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	32	12	.	.	ENST00000340370.5:c.4403C>G	p.Ser1468Cys	p.S1468C	ENST00000340370	NM_033407.3	1468	tCc/tGc	0	1	1	UPI000044FEA9	0	NA	ENST00000340370		ENSG00000116641	19190		44	0.14		HGNC	p.S1490C		DOCK7		SNV			1				ENST00000251157	protein_coding	getma.org/?cm=var&var=hg19,1,62971468,G,C&fts=all		hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317		S/C		C	neutral	4421/6864		getma.org/?cm=msa&ty=f&p=DOCK7_HUMAN&rb=1338&re=1537&var=S1499C	tolerated(1)				YES	DOCK7,missense_variant,p.Ser1490Cys,ENST00000251157,NM_001272001.1,NM_001271999.1;DOCK7,missense_variant,p.Ser1468Cys,ENST00000340370,NM_033407.3,NM_001272000.1;DOCK7,missense_variant,p.Ser662Cys,ENST00000454575,;							MODERATE	4403/6330	S1499C	DOCK7_HUMAN			Transcript		benign(0.003)	.	ENSP00000340742		CCDS30734.1			1	
KRT27	0	LGGM	GRCh37	17	38936092	38936092	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	16	12	.	.	ENST00000301656.3:c.706G>A	p.Ala236Thr	p.A236T	ENST00000301656	NM_181537.3	236	Gcg/Acg	0	1	1	UPI0000200C91	0	NA	ENST00000301656		ENSG00000171446	30841		28	-0.05		HGNC	p.A236T	rs370988198,COSM1242447	KRT27		SNV	T:0					0,1	ENST00000301656	protein_coding	getma.org/?cm=var&var=hg19,17,38936092,C,T&fts=all		hmmpanther:PTHR23239:SF120,hmmpanther:PTHR23239,Pfam_domain:PF00038		A/T	T:0.0001	T	neutral	747/1612	3.02E-05	getma.org/?cm=msa&ty=f&p=K1C27_HUMAN&rb=83&re=398&var=A236T	tolerated(0.27)				YES	KRT27,missense_variant,p.Ala236Thr,ENST00000301656,NM_181537.3;KRT27,upstream_gene_variant,,ENST00000540723,;					0,1		MODERATE	706/1380	A236T	K1C27_HUMAN			Transcript		benign(0.081)	.	ENSP00000301656	1.65E-05	CCDS11375.1			1	
IARS2	0	LGGM	GRCh37	1	220318987	220318987	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	21	12	.	.	ENST00000302637.5:c.2888A>G	p.Asn963Ser	p.N963S	ENST00000302637	NM_018060.3	963	aAc/aGc	0	1		UPI00001D69E8	0	NA	ENST00000366922		ENSG00000067704	29685		33	0.55		HGNC	p.N963S	rs749589295	IARS2		SNV							ENST00000302637	protein_coding	getma.org/?cm=var&var=hg19,1,220318987,A,G&fts=all		Superfamily_domains:SSF47323,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF9,HAMAP:MF_02002		N/S		G	neutral	3003/3557		getma.org/?cm=msa&ty=f&p=SYIM_HUMAN&rb=924&re=983&var=N963S	tolerated(0.08)	F6SBX2_HUMAN				IARS2,missense_variant,p.Asn891Ser,ENST00000366922,;IARS2,missense_variant,p.Asn963Ser,ENST00000302637,NM_018060.3;RAB3GAP2,downstream_gene_variant,,ENST00000358951,NM_012414.3;IARS2,downstream_gene_variant,,ENST00000467924,;RPS15AP12,upstream_gene_variant,,ENST00000419498,;							MODERATE	2672/2823	N963S				Transcript		benign(0.099)	.	ENSP00000355889					1	
RNF123	0	LGGM	GRCh37	3	49753259	49753259	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	9	13	.	.	ENST00000327697.6:c.3155A>T	p.Gln1052Leu	p.Q1052L	ENST00000327697	NM_022064.3	1052	cAg/cTg	0	1	1	UPI00001D6A07	0	NA	ENST00000327697		ENSG00000164068	21148		22	2.165		HGNC	p.Q164L		RNF123		SNV							ENST00000433785	protein_coding	getma.org/?cm=var&var=hg19,3,49753259,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13363,hmmpanther:PTHR13363:SF1		Q/L		T	medium	3299/4311		getma.org/?cm=msa&ty=f&p=RN123_HUMAN&rb=1030&re=1229&var=Q1052L	deleterious(0)	C9JN91_HUMAN			YES	RNF123,missense_variant,p.Gln1052Leu,ENST00000327697,NM_022064.3;RNF123,missense_variant,p.Gln164Leu,ENST00000433785,;GMPPB,downstream_gene_variant,,ENST00000480687,;AMIGO3,downstream_gene_variant,,ENST00000535833,;GMPPB,downstream_gene_variant,,ENST00000308375,;AMIGO3,downstream_gene_variant,,ENST00000320431,NM_198722.2;RNF123,downstream_gene_variant,,ENST00000432042,;RNF123,upstream_gene_variant,,ENST00000497099,;RNF123,3_prime_UTR_variant,,ENST00000457726,;RNF123,3_prime_UTR_variant,,ENST00000444689,;RNF123,non_coding_transcript_exon_variant,,ENST00000487805,;RNF123,non_coding_transcript_exon_variant,,ENST00000486102,;RNF123,non_coding_transcript_exon_variant,,ENST00000469978,;RNF123,upstream_gene_variant,,ENST00000498376,;							MODERATE	3155/3945	Q1052L	RN123_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000328287		CCDS33758.1			1	
LAMA1	0	LGGM	GRCh37	18	6980558	6980558	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	12	13	.	.	ENST00000389658.3:c.5969C>A	p.Thr1990Asn	p.T1990N	ENST00000389658	NM_005559.3	1990	aCc/aAc	0	1	1	UPI00001C1FF9	0	NA	ENST00000389658		ENSG00000101680	6481		25	1.39		HGNC	p.T1990N		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,6980558,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38		T/N		T	low	6063/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=1832&re=2010&var=T1990N	deleterious(0)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Thr1990Asn,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;							MODERATE	5969/9228	T1990N	LAMA1_HUMAN			Transcript		benign(0.018)	.	ENSP00000374309		CCDS32787.1			1	
LIMK2	0	LGGM	GRCh37	22	31674368	31674368	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	58	14	.	.				ENST00000215912	NM_052880.4			0	1		UPI00000534BD	0	NA	ENST00000331728		ENSG00000182541	6614		72	1.87		HGNC	p.E374K		LIMK2		SNV							ENST00000444929	protein_coding	getma.org/?cm=var&var=hg19,22,31674368,G,A&fts=all				E/K		A	low	1972/3670		getma.org/?cm=msa&ty=f&p=LIMK2_HUMAN&rb=602&re=638&var=E620K	deleterious(0.02)	B4DYR0_HUMAN,B4DR56_HUMAN				LIMK2,missense_variant,p.Glu620Lys,ENST00000331728,NM_005569.3;LIMK2,missense_variant,p.Glu599Lys,ENST00000333611,NM_016733.2;LIMK2,missense_variant,p.Glu374Lys,ENST00000444929,;LIMK2,downstream_gene_variant,,ENST00000340552,NM_001031801.1;LIMK2,downstream_gene_variant,,ENST00000406516,;PIK3IP1,downstream_gene_variant,,ENST00000215912,NM_052880.4;PIK3IP1,downstream_gene_variant,,ENST00000441972,NM_001135911.1;PIK3IP1,downstream_gene_variant,,ENST00000487265,;LIMK2,non_coding_transcript_exon_variant,,ENST00000467301,;PIK3IP1,downstream_gene_variant,,ENST00000480654,;PIK3IP1,downstream_gene_variant,,ENST00000493034,;LIMK2,downstream_gene_variant,,ENST00000482270,;							MODERATE	1858/1917	E620K	LIMK2_HUMAN			Transcript		benign(0.175)	.	ENSP00000332687		CCDS13891.1			1	
EPS8	0	LGGM	GRCh37	12	15811084	15811084	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	26	14	.	.	ENST00000281172.5:c.1030A>G	p.Lys344Glu	p.K344E	ENST00000281172	NM_004447.5	344	Aaa/Gaa	0	1	1	UPI000012A0BC	0	NA	ENST00000281172		ENSG00000151491	3420		40	2.23		HGNC	p.K84E		EPS8		SNV			1				ENST00000540613	protein_coding	getma.org/?cm=var&var=hg19,12,15811084,T,C&fts=all		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21		K/E		C	medium	1467/4061		getma.org/?cm=msa&ty=f&p=EPS8_HUMAN&rb=195&re=394&var=K344E	deleterious(0)	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN			YES	EPS8,missense_variant,p.Lys344Glu,ENST00000281172,NM_004447.5;EPS8,missense_variant,p.Lys344Glu,ENST00000543523,;EPS8,missense_variant,p.Lys344Glu,ENST00000543612,;EPS8,missense_variant,p.Lys84Glu,ENST00000540613,;EPS8,missense_variant,p.Lys84Glu,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,3_prime_UTR_variant,,ENST00000546261,;EPS8,non_coding_transcript_exon_variant,,ENST00000535734,;EPS8,upstream_gene_variant,,ENST00000541465,;							MODERATE	1030/2469	K344E	EPS8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000281172		CCDS31753.1			1	
TCP11	0	LGGM	GRCh37	6	35088091	35088091	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	67	15	.	.	ENST00000311875.5:c.999G>T	p.Leu333=	p.L333=	ENST00000311875		333	ctG/ctT	0	1		UPI00000713D0	0		ENST00000512012		ENSG00000124678	11658		82			HGNC	p.L258L		TCP11		SNV							ENST00000244645	protein_coding			Pfam_domain:PF05794,hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF16		L		A		1117/1669				D6RGY5_HUMAN,D6RGC0_HUMAN,D6RG02_HUMAN,D6R9R9_HUMAN				TCP11,synonymous_variant,p.=,ENST00000311875,;TCP11,synonymous_variant,p.=,ENST00000244645,NM_018679.5,NM_001261821.1,NM_001261820.1;TCP11,synonymous_variant,p.=,ENST00000373979,;TCP11,synonymous_variant,p.=,ENST00000444780,NM_001093728.2,NM_001261817.1;TCP11,synonymous_variant,p.=,ENST00000412155,NM_001261819.1;TCP11,synonymous_variant,p.=,ENST00000373974,NM_001261818.1;TCP11,synonymous_variant,p.=,ENST00000512012,;TCP11,synonymous_variant,p.=,ENST00000418521,;TCP11,synonymous_variant,p.=,ENST00000502480,;TCP11,synonymous_variant,p.=,ENST00000486638,;TCP11,downstream_gene_variant,,ENST00000507706,;TCP11,downstream_gene_variant,,ENST00000492680,;TCP11,downstream_gene_variant,,ENST00000505400,;TCP11,3_prime_UTR_variant,,ENST00000504758,;TCP11,3_prime_UTR_variant,,ENST00000505911,;TCP11,3_prime_UTR_variant,,ENST00000455706,;TCP11,3_prime_UTR_variant,,ENST00000427376,;TCP11,downstream_gene_variant,,ENST00000469514,;TCP11,downstream_gene_variant,,ENST00000479418,;TCP11,downstream_gene_variant,,ENST00000509988,;TCP11,downstream_gene_variant,,ENST00000505335,;							LOW	960/1512		TCP11_HUMAN			Transcript			.	ENSP00000425995					1	
ATP13A5	0	LGGM	GRCh37	3	192997166	192997166	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	34	17	.	.	ENST00000342358.4:c.3304C>T	p.Arg1102Cys	p.R1102C	ENST00000342358	NM_198505.2	1102	Cgt/Tgt	0	1	1	UPI000050EC1D	0	NA	ENST00000342358		ENSG00000187527	31789	8.65E-05	51	1.735		HGNC	p.R1102C	rs762477750,COSM1537438	ATP13A5		SNV						0,1	ENST00000342358	protein_coding	getma.org/?cm=var&var=hg19,3,192997166,G,A&fts=all		Superfamily_domains:0049473,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093		R/C		A	low	3422/4027	6.00E-05	getma.org/?cm=msa&ty=f&p=AT135_HUMAN&rb=1076&re=1124&var=R1102C	deleterious(0.02)				YES	ATP13A5,missense_variant,p.Arg1102Cys,ENST00000342358,NM_198505.2;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;HRASLS,downstream_gene_variant,,ENST00000416012,;					0,1		MODERATE	3304/3657	R1102C	AT135_HUMAN			Transcript		benign(0.208)	.	ENSP00000341942	4.12E-05	CCDS33914.1			1	
LRP1B	0	LGGM	GRCh37	2	141571300	141571300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	46	18	.	.	ENST00000389484.3:c.5285T>C	p.Leu1762Pro	p.L1762P	ENST00000389484	NM_018557.2	1762	cTg/cCg	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=1659&to=1858&var=L1762P	ENST00000389484		ENSG00000168702	6693		64	2.41		HGNC	p.L1762P		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141571300,A,G&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		L/P		G	medium	6257/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=1659&re=1858&var=L1762P		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			YES	LRP1B,missense_variant,p.Leu1762Pro,ENST00000389484,NM_018557.2;							MODERATE	5285/13800	L1762P	LRP1B_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000374135		CCDS2182.1			1	
CACUL1	0	LGGM	GRCh37	10	120488819	120488830	+	inframe_deletion	In_Frame_Del	DEL	TGAGACTCTCTC	TGAGACTCTCTC	-	novel	by Submitter	H061464	H061464N.bam	TGAGACTCTCTC	TGAGACTCTCTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	10	19	.	.	ENST00000369151.3:c.574_585del	p.Glu192_Ser195del	p.E192_S195del	ENST00000369151	NM_153810.4	192	GAGAGAGTCTCA/-	0	1	1	UPI000000DCD0	0		ENST00000369151		ENSG00000151893	23727		29			HGNC	p.192_195del		CACUL1		deletion							ENST00000369151	protein_coding			hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF67,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF74788		ERVS/-		-		1058-1069/6733							YES	CACUL1,inframe_deletion,p.Glu192_Ser195del,ENST00000369151,NM_153810.4;CACUL1,inframe_deletion,p.Glu192_Ser195del,ENST00000340214,;CACUL1,upstream_gene_variant,,ENST00000544392,;CACUL1,inframe_deletion,p.Glu192_Ser195del,ENST00000493518,;CACUL1,non_coding_transcript_exon_variant,,ENST00000477583,;							MODERATE	574-585/1110		CACL1_HUMAN			Transcript			.	ENSP00000358147		CCDS41570.1			1	
ZDHHC20	0	LGGM	GRCh37	13	21957130	21957130	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	45	19	.	.	ENST00000382466.3:c.873T>C	p.Ser291=	p.S291=	ENST00000382466	NM_153251.3	291	agT/agC	0	1		UPI000045881B	0		ENST00000400590		ENSG00000180776	20749		64			HGNC	p.S291S		ZDHHC20		SNV							ENST00000400590	protein_coding			hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF14		S		G		1072/1869								ZDHHC20,synonymous_variant,p.=,ENST00000400590,;ZDHHC20,synonymous_variant,p.=,ENST00000320220,;ZDHHC20,synonymous_variant,p.=,ENST00000382466,NM_153251.3;ZDHHC20,synonymous_variant,p.=,ENST00000542645,NM_001286638.1;ZDHHC20,synonymous_variant,p.=,ENST00000415724,;ZDHHC20,non_coding_transcript_exon_variant,,ENST00000494731,;ZDHHC20,non_coding_transcript_exon_variant,,ENST00000477811,;ZDHHC20,non_coding_transcript_exon_variant,,ENST00000464055,;ZDHHC20,upstream_gene_variant,,ENST00000484277,;							LOW	873/1098		ZDH20_HUMAN			Transcript			.	ENSP00000383433					1	
RPP40	0	LGGM	GRCh37	6	4995507	4995507	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	19	19	.	.	ENST00000380051.2:c.897C>T	p.His299=	p.H299=	ENST00000380051	NM_006638.2	299	caC/caT	0	1	1	UPI000020E473	0		ENST00000380051		ENSG00000124787	20992		38			HGNC	p.H276H	rs559922527	RPP40		SNV				9.85E-05			ENST00000319533	protein_coding		A:0.0008	Pfam_domain:PF08584,hmmpanther:PTHR15396,hmmpanther:PTHR15396:SF1		H		A		942/1483					A:0	A:0	YES	RPP40,synonymous_variant,p.=,ENST00000380051,NM_006638.2;RPP40,synonymous_variant,p.=,ENST00000319533,NM_001286132.1;RPP40,synonymous_variant,p.=,ENST00000464646,;RPP40,downstream_gene_variant,,ENST00000468105,;RPP40,downstream_gene_variant,,ENST00000479782,;		A:0.0002					LOW	897/1092		RPP40_HUMAN		A:0	Transcript			.	ENSP00000369391	8.24E-06	CCDS34333.1		A:0	1	
NCOA3	0	LGGM	GRCh37	20	46264300	46264300	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	14	20	.	.	ENST00000371998.3:c.1347A>T	p.Gln449His	p.Q449H	ENST00000371998		449	caA/caT	0	1	1	UPI000012FE45	0	NA	ENST00000371998		ENSG00000124151	7670		34	2.36		HGNC	p.Q459H		NCOA3		SNV							ENST00000371997	protein_coding	getma.org/?cm=var&var=hg19,20,46264300,A,T&fts=all		PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF3		Q/H		T	medium	1538/4668		getma.org/?cm=msa&ty=f&p=NCOA3_HUMAN&rb=411&re=610&var=Q449H	deleterious(0.03)	Q569F6_HUMAN,B4DYT5_HUMAN			YES	NCOA3,missense_variant,p.Gln449His,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,missense_variant,p.Gln459His,ENST00000341724,;NCOA3,missense_variant,p.Gln459His,ENST00000371997,;NCOA3,missense_variant,p.Gln449His,ENST00000371998,;RP5-1049G16.4,upstream_gene_variant,,ENST00000448675,;							MODERATE	1347/4275	Q449H	NCOA3_HUMAN			Transcript		benign(0.068)	.	ENSP00000361066		CCDS13407.1			1	
LRP1B	0	LGGM	GRCh37	2	141819801	141819801	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	26	20	.	.	ENST00000389484.3:c.1055A>G	p.Glu352Gly	p.E352G	ENST00000389484	NM_018557.2	352	gAg/gGg	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=336&to=381&var=E352G	ENST00000389484		ENSG00000168702	6693		46	2.295		HGNC	p.E352G	COSM570078	LRP1B		SNV						1	ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141819801,T,C&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		E/G		C	medium	2027/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=336&re=381&var=E352G		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			YES	LRP1B,missense_variant,p.Glu352Gly,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;					1		MODERATE	1055/13800	E352G	LRP1B_HUMAN			Transcript		benign(0.403)	.	ENSP00000374135		CCDS2182.1			1	
TRPM6	0	LGGM	GRCh37	9	77397700	77397700	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	32	20	.	.	ENST00000360774.1:c.2989G>A	p.Ala997Thr	p.A997T	ENST00000360774	NM_017662.4	997	Gcc/Acc	0	1	1	UPI000006E041	0	NA	ENST00000360774		ENSG00000119121	17995		52	2.855		HGNC	p.A997T		TRPM6		SNV			1				ENST00000376864	protein_coding	getma.org/?cm=var&var=hg19,9,77397700,C,T&fts=all		hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800		A/T		T	medium	3227/8425		getma.org/?cm=msa&ty=f&p=TRPM6_HUMAN&rb=873&re=1069&var=A997T	deleterious(0)				YES	TRPM6,missense_variant,p.Ala997Thr,ENST00000451710,;TRPM6,missense_variant,p.Ala997Thr,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Ala992Thr,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Ala992Thr,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Ala997Thr,ENST00000376864,;TRPM6,intron_variant,,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;							MODERATE	2989/6069	A997T	TRPM6_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000354006		CCDS6647.1			1	
SEMA4C	0	LGGM	GRCh37	2	97530118	97530118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	27	21	.	.	ENST00000305476.5:c.964G>T	p.Gly322Cys	p.G322C	ENST00000305476	NM_017789.4	322	Ggt/Tgt	0	1	1	UPI00001A7981	0	getma.org/pdb.php?prot=SEM4C_HUMAN&from=53&to=481&var=G322C	ENST00000305476		ENSG00000168758	10731		48	2.135		HGNC	p.G322C		SEMA4C		SNV							ENST00000305476	protein_coding	getma.org/?cm=var&var=hg19,2,97530118,C,A&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF16,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		G/C		A	medium	1097/3545		getma.org/?cm=msa&ty=f&p=SEM4C_HUMAN&rb=53&re=481&var=G322C	deleterious(0.01)	Q8NBN9_HUMAN,Q6P5A5_HUMAN,Q53RE7_HUMAN,C9JV89_HUMAN,C9J4M7_HUMAN			YES	SEMA4C,missense_variant,p.Gly322Cys,ENST00000305476,NM_017789.4;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;SEMA4C,splice_region_variant,,ENST00000482925,;SEMA4C,upstream_gene_variant,,ENST00000467747,;SEMA4C,upstream_gene_variant,,ENST00000474420,;							MODERATE	964/2502	G322C	SEM4C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306844		CCDS2029.1			1	
ELF1	0	LGGM	GRCh37	13	41533046	41533046	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	35	21	.	.	ENST00000239882.3:c.179T>G	p.Met60Arg	p.M60R	ENST00000239882	NM_172373.3	60	aTg/aGg	0	1	1	UPI000007071F	0	NA	ENST00000239882		ENSG00000120690	3316		56	1.7		HGNC	p.M60R		ELF1		SNV							ENST00000442101	protein_coding	getma.org/?cm=var&var=hg19,13,41533046,A,C&fts=all		hmmpanther:PTHR11849:SF156,hmmpanther:PTHR11849,Pfam_domain:PF12310		M/R		C	low	494/3566		getma.org/?cm=msa&ty=f&p=ELF1_HUMAN&rb=1&re=111&var=M60R	deleterious(0)	Q6MZZ4_HUMAN,Q5T9E7_HUMAN,B3KTE9_HUMAN			YES	ELF1,missense_variant,p.Met60Arg,ENST00000239882,NM_172373.3;ELF1,missense_variant,p.Met60Arg,ENST00000442101,NM_001145353.1;ELF1,non_coding_transcript_exon_variant,,ENST00000498824,;							MODERATE	179/1860	M60R	ELF1_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000239882		CCDS9374.1			1	
TOP2B	0	LGGM	GRCh37	3	25668155	25668155	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	34	22	.	.	ENST00000435706.2:c.2105A>G	p.Tyr702Cys	p.Y702C	ENST00000435706	NM_001068.3	702	tAt/tGt	0	1		UPI000013719A	0	getma.org/pdb.php?prot=TOP2B_HUMAN&from=595&to=733&var=Y707C	ENST00000264331		ENSG00000077097	11990		56	2.845		HGNC	p.Y702C		TOP2B		SNV							ENST00000424225	protein_coding	getma.org/?cm=var&var=hg19,3,25668155,T,C&fts=all		hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,Superfamily_domains:SSF56719		Y/C		C	medium	2120/5189		getma.org/?cm=msa&ty=f&p=TOP2B_HUMAN&rb=595&re=733&var=Y707C	deleterious(0)	Q8WTY5_HUMAN,Q6LC06_HUMAN,Q6LBI8_HUMAN,B4DLV2_HUMAN				TOP2B,missense_variant,p.Tyr702Cys,ENST00000435706,NM_001068.3;TOP2B,missense_variant,p.Tyr707Cys,ENST00000264331,;TOP2B,missense_variant,p.Tyr702Cys,ENST00000424225,;TOP2B,downstream_gene_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;							MODERATE	2120/4881	Y707C	TOP2B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264331					1	
IFI44	0	LGGM	GRCh37	1	79116236	79116236	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	47	23	.	.	ENST00000370747.4:c.356G>A	p.Arg119Lys	p.R119K	ENST00000370747	NM_006417.4	119	aGa/aAa	0	1	1	UPI000013D0E5	0	NA	ENST00000370747		ENSG00000137965	16938		70	0.345		HGNC	p.R119K		IFI44		SNV							ENST00000370747	protein_coding	getma.org/?cm=var&var=hg19,1,79116236,G,A&fts=all		hmmpanther:PTHR14241:SF3,hmmpanther:PTHR14241,Pfam_domain:PF07534		R/K		A	neutral	441/1687		getma.org/?cm=msa&ty=f&p=IFI44_HUMAN&rb=26&re=152&var=R119K	tolerated(0.97)	C9JUM8_HUMAN			YES	IFI44,missense_variant,p.Arg119Lys,ENST00000370747,NM_006417.4;IFI44,5_prime_UTR_variant,,ENST00000438486,;IFI44,intron_variant,,ENST00000545124,;IFI44L,downstream_gene_variant,,ENST00000370751,NM_006820.2;IFI44,non_coding_transcript_exon_variant,,ENST00000467790,;IFI44,intron_variant,,ENST00000495254,;IFI44,intron_variant,,ENST00000472152,;IFI44,intron_variant,,ENST00000470323,;							MODERATE	356/1335	R119K	IFI44_HUMAN			Transcript		benign(0.009)	.	ENSP00000359783		CCDS688.1			1	
ATP13A4	0	LGGM	GRCh37	3	193175215	193175215	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061464	H061464N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	55	23	.	.	ENST00000342695.4:c.1714G>T	p.Val572Leu	p.V572L	ENST00000342695	NM_032279.2	572	Gtg/Ttg	0	1	1	UPI0000520D50	0	getma.org/pdb.php?prot=AT134_HUMAN&from=483&to=857&var=V572L	ENST00000342695		ENSG00000127249	25422		78	-0.575		HGNC	p.V572L		ATP13A4		SNV							ENST00000342695	protein_coding	getma.org/?cm=var&var=hg19,3,193175215,C,A&fts=all		hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF81660		V/L		A	neutral	2037/4208		getma.org/?cm=msa&ty=f&p=AT134_HUMAN&rb=483&re=857&var=V572L	tolerated(0.32)				YES	ATP13A4,missense_variant,p.Val572Leu,ENST00000342695,NM_032279.2;ATP13A4,missense_variant,p.Val553Leu,ENST00000392443,;ATP13A4,downstream_gene_variant,,ENST00000295548,;ATP13A4,missense_variant,p.Val212Leu,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;							MODERATE	1714/3591	V572L	AT134_HUMAN			Transcript		benign(0.007)	.	ENSP00000339182		CCDS3304.2			1	
ATAD1	0	LGGM	GRCh37	10	89516626	89516626	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	11	24	.	.	ENST00000308448.7:c.885A>C	p.Ser295=	p.S295=	ENST00000308448	NM_032810.2	295	tcA/tcC	0	1	1	UPI000000B2DE	0		ENST00000308448		ENSG00000138138	25903		35			HGNC	p.S295S		ATAD1		SNV							ENST00000308448	protein_coding			Superfamily_domains:SSF52540,Gene3D:1.10.8.60,hmmpanther:PTHR23074:SF73,hmmpanther:PTHR23074		S		G		1264/4640							YES	ATAD1,synonymous_variant,p.=,ENST00000308448,NM_032810.2;ATAD1,synonymous_variant,p.=,ENST00000328142,;ATAD1,synonymous_variant,p.=,ENST00000400215,;ATAD1,downstream_gene_variant,,ENST00000541004,;							LOW	885/1086		ATAD1_HUMAN			Transcript			.	ENSP00000339017		CCDS7386.1			1	
ERBB4	0	LGGM	GRCh37	2	212576856	212576856	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	30	26	.	.	ENST00000342788.4:c.1043T>C	p.Val348Ala	p.V348A	ENST00000342788	NM_005235.2	348	gTg/gCg	0	1	1	UPI00000499DF	0	getma.org/pdb.php?prot=ERBB4_HUMAN&from=336&to=357&var=V348A	ENST00000342788		ENSG00000178568	3432		56	3.185		HGNC	p.V348A		ERBB4		SNV			1				ENST00000342788	protein_coding	getma.org/?cm=var&var=hg19,2,212576856,A,G&fts=all		Gene3D:3.80.20.20,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,Superfamily_domains:SSF52058		V/A		G	medium	1354/12132		getma.org/?cm=msa&ty=f&p=ERBB4_HUMAN&rb=306&re=387&var=V348A	deleterious(0)	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,missense_variant,p.Val348Ala,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Val348Ala,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Val348Ala,ENST00000402597,;ERBB4,missense_variant,p.Val348Ala,ENST00000260943,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;							MODERATE	1043/3927	V348A	ERBB4_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000342235		CCDS2394.1			1	
TP53	0	LGGM	GRCh37	17	7579498	7579498	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	10	27	.	.	ENST00000269305.4:c.189del	p.Arg65GlufsTer58	p.R65Efs*58	ENST00000269305	NM_001126112.2	63	gcT/gc	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		37			HGNC	p.A63fs		TP53		deletion			1				ENST00000508793	protein_coding			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Low_complexity_(Seg):seg		A/X		-		379/2579				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			YES	TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000445888,;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000359597,;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000413465,;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000508793,;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000604348,;TP53,frameshift_variant,p.Arg65GlufsTer58,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;							HIGH	189/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
SUZ12	0	LGGM	GRCh37	17	30325876	30325876	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	50	28	.	.	ENST00000322652.5:c.2074G>T	p.Glu692Ter	p.E692*	ENST00000322652	NM_015355.2	692	Gaa/Taa	0	1	1	UPI000006F727	0	NA	ENST00000322652		ENSG00000178691	17101		78	0		HGNC	p.E669X		SUZ12		SNV			1				ENST00000580398	protein_coding	getma.org/?cm=var&var=hg19,17,30325876,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22597		E/*		T	NA	2303/4491		NA					YES	SUZ12,stop_gained,p.Glu692Ter,ENST00000322652,NM_015355.2;SUZ12,stop_gained,p.Glu669Ter,ENST00000580398,;RP11-640N20.1,downstream_gene_variant,,ENST00000583346,;SUZ12,non_coding_transcript_exon_variant,,ENST00000578106,;RP11-640N20.1,downstream_gene_variant,,ENST00000582184,;							HIGH	2074/2220	E692*	SUZ12_HUMAN			Transcript			.	ENSP00000316578		CCDS11270.1			1	
SEMA3D	0	LGGM	GRCh37	7	84727130	84727130	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	88	32	.	.	ENST00000284136.6:c.303T>A	p.Asn101Lys	p.N101K	ENST00000284136	NM_152754.2	101	aaT/aaA	0	1	1	UPI0000135A66	0	getma.org/pdb.php?prot=SEM3D_HUMAN&from=70&to=515&var=N101K	ENST00000284136		ENSG00000153993	10726		120	0.46		HGNC	p.N101K		SEMA3D		SNV			1				ENST00000284136	protein_coding	getma.org/?cm=var&var=hg19,7,84727130,A,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36,SMART_domains:SM00630,Superfamily_domains:SSF101912		N/K		T	neutral	347/6265		getma.org/?cm=msa&ty=f&p=SEM3D_HUMAN&rb=70&re=515&var=N101K	tolerated(0.29)				YES	SEMA3D,missense_variant,p.Asn101Lys,ENST00000284136,NM_152754.2;SEMA3D,missense_variant,p.Asn101Lys,ENST00000444867,;							MODERATE	303/2334	N101K	SEM3D_HUMAN			Transcript		benign(0.174)	.	ENSP00000284136		CCDS34676.1			1	
LPHN2	0	LGGM	GRCh37	1	82409386	82409386	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	24	39	.	.	ENST00000319517.6:c.1131T>G	p.Leu377=	p.L377=	ENST00000319517	NM_012302.2	377	ctT/ctG	0	1		UPI0000458983	0		ENST00000370717		ENSG00000117114	18582		63			HGNC	p.L377L		LPHN2		SNV							ENST00000370717	protein_coding			PROSITE_profiles:PS51132,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF02191,SMART_domains:SM00284		L		G		1347/5918				Q9UJ49_HUMAN				LPHN2,synonymous_variant,p.=,ENST00000370728,;LPHN2,synonymous_variant,p.=,ENST00000370730,;LPHN2,synonymous_variant,p.=,ENST00000370717,;LPHN2,synonymous_variant,p.=,ENST00000394879,;LPHN2,synonymous_variant,p.=,ENST00000271029,;LPHN2,synonymous_variant,p.=,ENST00000335786,;LPHN2,synonymous_variant,p.=,ENST00000370715,;LPHN2,synonymous_variant,p.=,ENST00000319517,NM_012302.2;LPHN2,synonymous_variant,p.=,ENST00000370713,;LPHN2,synonymous_variant,p.=,ENST00000370725,;LPHN2,synonymous_variant,p.=,ENST00000370723,;LPHN2,synonymous_variant,p.=,ENST00000370727,;LPHN2,synonymous_variant,p.=,ENST00000370721,;LPHN2,synonymous_variant,p.=,ENST00000359929,;LPHN2,synonymous_variant,p.=,ENST00000449420,;LPHN2,intron_variant,,ENST00000469377,;							LOW	1131/4425		LPHN2_HUMAN			Transcript			.	ENSP00000359752					1	
OR4K5	0	LGGM	GRCh37	14	20389537	20389537	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	75	40	.	.	ENST00000315915.4:c.772T>C	p.Tyr258His	p.Y258H	ENST00000315915	NM_001005483.1	258	Tat/Cat	0	1	1	UPI0000061E9E	0	NA	ENST00000315915		ENSG00000176281	14745		115	3.195		HGNC	p.Y258H		OR4K5		SNV							ENST00000315915	protein_coding	getma.org/?cm=var&var=hg19,14,20389537,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/H		C	medium	797/1078		getma.org/?cm=msa&ty=f&p=OR4K5_HUMAN&rb=139&re=280&var=Y258H	deleterious(0)				YES	OR4K5,missense_variant,p.Tyr258His,ENST00000315915,NM_001005483.1;							MODERATE	772/972	Y258H	OR4K5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000319511		CCDS32024.1			1	
DOCK3	0	LGGM	GRCh37	3	51126687	51126687	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061464	H061464N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	75	46	.	.	ENST00000266037.9:c.563G>A	p.Arg188Gln	p.R188Q	ENST00000266037	NM_004947.4	188	cGg/cAg	0	1	1	UPI000007412C	0	NA	ENST00000266037		ENSG00000088538	2989		121	2.24		HGNC	p.R188Q	rs377200419,COSM1424214,COSM1424213	DOCK3		SNV	A:0.0003			0.000143		0,1,1	ENST00000266037	protein_coding	getma.org/?cm=var&var=hg19,3,51126687,G,A&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF66,Low_complexity_(Seg):seg		R/Q	A:0	A	medium	586/8755	7.66E-05	getma.org/?cm=msa&ty=f&p=DOCK3_HUMAN&rb=64&re=263&var=R188Q	tolerated(0.18)				YES	DOCK3,missense_variant,p.Arg188Gln,ENST00000266037,NM_004947.4;					0,1,1		MODERATE	563/6093	R188Q	DOCK3_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000266037	3.31E-05	CCDS46835.1			1	
CXXC4	0	LGGM	GRCh37	4	105393481	105393481	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	by Submitter	H061464	H061464N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	21	59	.	.	ENST00000394767.2:c.1102T>C	p.Ter368GlnextTer13	p.*368Qext*13	ENST00000394767	NM_025212.2	368	Taa/Caa	0	1		UPI000002538A	0		ENST00000426831		ENSG00000168772	24593		80			HGNC	p.X199Q		CXXC4		SNV							ENST00000426831	protein_coding					*/Q		G		610/746								CXXC4,stop_lost,p.Ter368GlnextTer13,ENST00000394767,NM_025212.2;CXXC4,stop_lost,p.Ter199GlnextTer13,ENST00000426831,;CXXC4,non_coding_transcript_exon_variant,,ENST00000466963,;CXXC4,non_coding_transcript_exon_variant,,ENST00000515509,;							HIGH	595/597		CXXC4_HUMAN			Transcript			.	ENSP00000412267					1	
TNIK	0	LGGM	GRCh37	3	170912361	170912361	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	122	82	.	.	ENST00000436636.2:c.370A>G	p.Thr124Ala	p.T124A	ENST00000436636	NM_015028.2	124	Acg/Gcg	0	1	1	UPI000003ABDF	0	getma.org/pdb.php?prot=TNIK_HUMAN&from=25&to=289&var=T124A	ENST00000436636		ENSG00000154310	30765		204	1.15		HGNC	p.T124A		TNIK		SNV							ENST00000460047	protein_coding	getma.org/?cm=var&var=hg19,3,170912361,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		T/A		C	low	715/6970		getma.org/?cm=msa&ty=f&p=TNIK_HUMAN&rb=25&re=289&var=T124A	tolerated(0.34)				YES	TNIK,missense_variant,p.Thr124Ala,ENST00000436636,NM_015028.2;TNIK,missense_variant,p.Thr124Ala,ENST00000369326,NM_001161560.1,NM_001161566.1,NM_001161562.1,NM_001161561.1;TNIK,missense_variant,p.Thr124Ala,ENST00000538048,NM_001161564.1,NM_001161563.1;TNIK,missense_variant,p.Thr124Ala,ENST00000341852,NM_001161565.1;TNIK,missense_variant,p.Thr124Ala,ENST00000284483,;TNIK,missense_variant,p.Thr124Ala,ENST00000357327,;TNIK,missense_variant,p.Thr124Ala,ENST00000470834,;TNIK,missense_variant,p.Thr124Ala,ENST00000488470,;TNIK,missense_variant,p.Thr124Ala,ENST00000460047,;TNIK,missense_variant,p.Thr124Ala,ENST00000475336,;TNIK,missense_variant,p.Thr98Ala,ENST00000468757,;							MODERATE	370/4083	T124A	TNIK_HUMAN			Transcript		unknown(0)	.	ENSP00000399511		CCDS46956.1			1	
PCLO	0	LGGM	GRCh37	7	82595618	82595618	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	122	96	.	.	ENST00000333891.9:c.3486A>G	p.Gln1162=	p.Q1162=	ENST00000333891	NM_033026.5	1162	caA/caG	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		218			HGNC	p.Q1162Q		PCLO		SNV			1				ENST00000333891	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		Q		C		3824/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,downstream_gene_variant,,ENST00000461143,;							LOW	3486/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
SMG1	0	LGGM	GRCh37	16	18823180	18823180	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061464	H061464N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061464N.bam, H061464T.bam	Illumina HiSeq	133	111	.	.	ENST00000446231.2:c.10811A>G	p.Glu3604Gly	p.E3604G	ENST00000446231		3604	gAg/gGg	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		244	1.795		HGNC	p.E3604G		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18823180,T,C&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		E/G		C	low	11224/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=3428&re=3627&var=E3604G	deleterious(0.01)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Glu3604Gly,ENST00000446231,;SMG1,missense_variant,p.Glu3605Gly,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Glu3494Gly,ENST00000565324,;RP11-1035H13.2,intron_variant,,ENST00000569096,;SMG1,downstream_gene_variant,,ENST00000561940,;							MODERATE	10811/10986	E3604G	SMG1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000402515		CCDS45430.1			1	
DNAJB11	0	LGGM	GRCh37	3	186300515	186300515	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	6	2	.	.	ENST00000439351.1:c.693C>T	p.His231=	p.H231=	ENST00000439351		231	caC/caT	0	1		UPI0000001BF7	0		ENST00000265028		ENSG00000090520	14889		8			HGNC	p.H231H		DNAJB11		SNV							ENST00000439351	protein_coding			Superfamily_domains:SSF49493,Gene3D:2.60.260.20,hmmpanther:PTHR24077:SF210,hmmpanther:PTHR24077		H		T		913/1688				B3KW63_HUMAN				DNAJB11,synonymous_variant,p.=,ENST00000439351,;DNAJB11,synonymous_variant,p.=,ENST00000265028,NM_016306.4;DNAJB11,synonymous_variant,p.=,ENST00000418776,;DNAJB11,non_coding_transcript_exon_variant,,ENST00000495390,;DNAJB11,downstream_gene_variant,,ENST00000464877,;							LOW	693/1077		DJB11_HUMAN			Transcript			.	ENSP00000265028		CCDS3277.1			1	
NCOR1	0	LGGM	GRCh37	17	15974980	15974980	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	42	3	.	.	ENST00000268712.3:c.3896-1G>T		p.X1299_splice	ENST00000268712	NM_006311.3			0	1	1	UPI000013D7D5	0		ENST00000268712		ENSG00000141027	7672		45			HGNC	-		NCOR1		SNV							ENST00000268712	protein_coding							A		-/10720				Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN			YES	NCOR1,splice_acceptor_variant,,ENST00000268712,NM_006311.3;NCOR1,splice_acceptor_variant,,ENST00000395851,NM_001190440.1;NCOR1,intron_variant,,ENST00000395857,;NCOR1,intron_variant,,ENST00000395849,;NCOR1,splice_acceptor_variant,,ENST00000458113,;NCOR1,upstream_gene_variant,,ENST00000470782,;							HIGH	3896/7323		NCOR1_HUMAN			Transcript			.	ENSP00000268712		CCDS11175.1			1	
ZNG1A	0	LGGM	GRCh37	9	164037	164037	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	36	3	.	.	ENST00000356521.4:c.431G>C	p.Gly144Ala	p.G144A	ENST00000356521	NM_018491.3	144	gGt/gCt	0	1	1	UPI000006EFDF	0	getma.org/pdb.php?prot=CBWD1_HUMAN&from=43&to=231&var=G144A	ENST00000356521		ENSG00000172785	17134		39	1		HGNC	p.G144A		CBWD1		SNV							ENST00000356521	protein_coding	getma.org/?cm=var&var=hg19,9,164037,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF02492,hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF38,Superfamily_domains:SSF52540		G/A		G	low	520/1703		getma.org/?cm=msa&ty=f&p=CBWD1_HUMAN&rb=43&re=231&var=G144A	deleterious(0.01)				YES	CBWD1,missense_variant,p.Gly144Ala,ENST00000377447,;CBWD1,missense_variant,p.Gly144Ala,ENST00000356521,NM_018491.3;CBWD1,missense_variant,p.Gly144Ala,ENST00000377400,;CBWD1,missense_variant,p.Gly108Ala,ENST00000314367,NM_001145355.1;CBWD1,missense_variant,p.Gly144Ala,ENST00000382447,NM_001145356.1;CBWD1,missense_variant,p.Gly108Ala,ENST00000431099,;CBWD1,splice_region_variant,,ENST00000495302,;CBWD1,splice_region_variant,,ENST00000465014,;CBWD1,splice_region_variant,,ENST00000487575,;CBWD1,splice_region_variant,,ENST00000498044,;CBWD1,upstream_gene_variant,,ENST00000489272,;							MODERATE	431/1188	G144A	CBWD1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000348915		CCDS6438.1			1	
ITGA5	0	LGGM	GRCh37	12	54805741	54805741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	13	3	.	.	ENST00000293379.4:c.226G>T	p.Val76Leu	p.V76L	ENST00000293379	NM_002205.2	76	Gtg/Ttg	0	1	1	UPI000012D9F3	0	getma.org/pdb.php?prot=ITA5_HUMAN&from=1&to=200&var=V76L	ENST00000293379		ENSG00000161638	6141		16	-0.045		HGNC	p.V76L		ITGA5		SNV							ENST00000293379	protein_coding	getma.org/?cm=var&var=hg19,12,54805741,C,A&fts=all		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF3,SMART_domains:SM00191,Superfamily_domains:SSF69318		V/L		A	neutral	488/4444		getma.org/?cm=msa&ty=f&p=ITA5_HUMAN&rb=1&re=200&var=V76L	tolerated(0.31)				YES	ITGA5,missense_variant,p.Val76Leu,ENST00000293379,NM_002205.2;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;ITGA5,non_coding_transcript_exon_variant,,ENST00000547744,;ITGA5,missense_variant,p.Val53Leu,ENST00000553071,;ITGA5,intron_variant,,ENST00000435631,;							MODERATE	226/3150	V76L	ITA5_HUMAN			Transcript		benign(0.004)	.	ENSP00000293379		CCDS8880.1			1	
ANO10	0	LGGM	GRCh37	3	43618550	43618550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	38	3	.	.	ENST00000292246.3:c.796G>A	p.Ala266Thr	p.A266T	ENST00000292246	NM_018075.3	266	Gcc/Acc	0	1	1	UPI000020A59A	0	NA	ENST00000292246		ENSG00000160746	25519		41	2.91		HGNC	p.A266T		ANO10		SNV			1				ENST00000292246	protein_coding	getma.org/?cm=var&var=hg19,3,43618550,C,T&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF18		A/T		T	medium	967/3212		getma.org/?cm=msa&ty=f&p=ANO10_HUMAN&rb=200&re=629&var=A266T	deleterious(0.01)	C9JQC9_HUMAN,C9JPY2_HUMAN,C9JJS5_HUMAN,C9JA49_HUMAN,C9IZD0_HUMAN,C9IYD3_HUMAN			YES	ANO10,missense_variant,p.Ala266Thr,ENST00000292246,NM_018075.3;ANO10,missense_variant,p.Ala266Thr,ENST00000414522,NM_001204831.1;ANO10,missense_variant,p.Ala200Thr,ENST00000396091,NM_001204832.1;ANO10,missense_variant,p.Ala155Thr,ENST00000451430,NM_001204833.1;ANO10,missense_variant,p.Ala155Thr,ENST00000428472,;ANO10,intron_variant,,ENST00000350459,NM_001204834.1;ANO10,intron_variant,,ENST00000427171,;							MODERATE	796/1983	A266T	ANO10_HUMAN			Transcript		possibly_damaging(0.513)	.	ENSP00000292246		CCDS2710.2			1	
ARHGEF10	0	LGGM	GRCh37	8	1842578	1842578	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	22	3	.	.	ENST00000349830.3:c.1280C>A	p.Ser427Tyr	p.S427Y	ENST00000349830	NM_014629.2	427	tCt/tAt	0	1		UPI0000D89824	0	getma.org/pdb.php?prot=ARHGA_HUMAN&from=425&to=607&var=S452Y	ENST00000398564		ENSG00000104728	14103		25	1.665		HGNC	p.S100Y		ARHGEF10		SNV			1				ENST00000522435	protein_coding	getma.org/?cm=var&var=hg19,8,1842578,C,A&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,SMART_domains:SM00325,Superfamily_domains:SSF48065		S/Y		A	low	1355/5480		getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=425&re=607&var=S452Y	tolerated(0.3)					ARHGEF10,missense_variant,p.Ser452Tyr,ENST00000518288,;ARHGEF10,missense_variant,p.Ser427Tyr,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Ser452Tyr,ENST00000398564,;ARHGEF10,missense_variant,p.Ser389Tyr,ENST00000520359,;ARHGEF10,missense_variant,p.Ser452Tyr,ENST00000262112,;ARHGEF10,missense_variant,p.Ser100Tyr,ENST00000522435,;ARHGEF10,missense_variant,p.Ser413Tyr,ENST00000398560,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;							MODERATE	1355/4110	S452Y	ARHGA_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000381571					1	
GBF1	0	LGGM	GRCh37	10	104141919	104141919	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	33	3	.	.	ENST00000369983.3:c.5406C>A	p.Pro1802=	p.P1802=	ENST00000369983	NM_004193.2	1802	ccC/ccA	0	1	1	UPI000012B228	0		ENST00000369983		ENSG00000107862	4181		36			HGNC	p.P1802P		GBF1		SNV							ENST00000369983	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138,Low_complexity_(Seg):seg		P		A		5666/6403				Q149P0_HUMAN			YES	GBF1,synonymous_variant,p.=,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;							LOW	5406/5580		GBF1_HUMAN			Transcript			.	ENSP00000359000		CCDS7533.1			1	
EPS15	0	LGGM	GRCh37	1	51913722	51913722	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	46	3	.	.	ENST00000371733.3:c.647A>G	p.Lys216Arg	p.K216R	ENST00000371733	NM_001981.2	216	aAa/aGa	0	1	1	UPI0000161B29	0	getma.org/pdb.php?prot=EPS15_HUMAN&from=128&to=216&var=K216R	ENST00000371733		ENSG00000085832	3419		49	1.49		HGNC	p.K216R		EPS15		SNV							ENST00000371733	protein_coding	getma.org/?cm=var&var=hg19,1,51913722,T,C&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF12763,PROSITE_profiles:PS50031,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF54		K/R		C	low	744/5225		getma.org/?cm=msa&ty=f&p=EPS15_HUMAN&rb=128&re=216&var=K216R	deleterious(0.05)				YES	EPS15,missense_variant,p.Lys216Arg,ENST00000371733,NM_001981.2;EPS15,missense_variant,p.Lys216Arg,ENST00000371730,;							MODERATE	647/2691	K216R	EPS15_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000360798		CCDS557.1			1	
FCN1	0	LGGM	GRCh37	9	137808194	137808194	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	47	3	.	.	ENST00000371806.3:c.217G>T	p.Gly73Ter	p.G73*	ENST00000371806	NM_002003.3	73	Gga/Tga	0	1	1	UPI000012A5A7	0	NA	ENST00000371806		ENSG00000085265	3623		50	0		HGNC	p.G73X		FCN1		SNV							ENST00000371806	protein_coding	getma.org/?cm=var&var=hg19,9,137808194,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF165		G/*		A	NA	309/1286		NA		Q92531_HUMAN			YES	FCN1,stop_gained,p.Gly73Ter,ENST00000371806,NM_002003.3;							HIGH	217/981	G73*	FCN1_HUMAN			Transcript			.	ENSP00000360871		CCDS6985.1			1	
ANKRD44	0	LGGM	GRCh37	2	197865153	197865153	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	36	3	.	.	ENST00000282272.8:c.2485G>T	p.Asp829Tyr	p.D829Y	ENST00000282272	NM_001195144.1	829	Gac/Tac	0	1		UPI0001AE772B	0	getma.org/pdb.php?prot=ANR44_HUMAN&from=808&to=903&var=D837Y	ENST00000282272		ENSG00000065413	25259		39	0.295		HGNC	p.D812Y		ANKRD44		SNV							ENST00000450567	protein_coding	getma.org/?cm=var&var=hg19,2,197865153,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,Superfamily_domains:SSF48403		D/Y		A	neutral	2485/2958		getma.org/?cm=msa&ty=f&p=ANR44_HUMAN&rb=808&re=903&var=D837Y	deleterious(0.03)	Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,missense_variant,p.Asp812Tyr,ENST00000328737,;ANKRD44,missense_variant,p.Asp812Tyr,ENST00000450567,;ANKRD44,missense_variant,p.Asp812Tyr,ENST00000337207,;ANKRD44,missense_variant,p.Asp829Tyr,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Asp652Tyr,ENST00000424317,;ANKRD44,missense_variant,p.Asp26Tyr,ENST00000448801,;ANKRD44,upstream_gene_variant,,ENST00000493808,;							MODERATE	2485/2958	D837Y				Transcript		benign(0.257)	.	ENSP00000282272					1	
RFC2	0	LGGM	GRCh37	7	73663432	73663432	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	49	4	.	.	ENST00000055077.3:c.242G>A	p.Gly81Asp	p.G81D	ENST00000055077	NM_001278792.1	81	gGc/gAc	0	1	1	UPI000012516A	0	getma.org/pdb.php?prot=RFC2_HUMAN&from=72&to=193&var=G81D	ENST00000055077		ENSG00000049541	9970		53	4.325		HGNC	p.G81D		RFC2		SNV			1				ENST00000055077	protein_coding	getma.org/?cm=var&var=hg19,7,73663432,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR11669,hmmpanther:PTHR11669:SF5,SMART_domains:SM00382,Superfamily_domains:SSF52540		G/D		T	high	303/1695		getma.org/?cm=msa&ty=f&p=RFC2_HUMAN&rb=72&re=193&var=G81D	deleterious(0.05)	F8WDC9_HUMAN			YES	RFC2,missense_variant,p.Gly81Asp,ENST00000055077,NM_001278792.1,NM_181471.2,NM_001278791.1;RFC2,missense_variant,p.Gly81Asp,ENST00000352131,NM_002914.4,NM_001278793.1;RFC2,missense_variant,p.Ala56Thr,ENST00000473493,;RFC2,3_prime_UTR_variant,,ENST00000479105,;RFC2,3_prime_UTR_variant,,ENST00000470266,;RFC2,3_prime_UTR_variant,,ENST00000463194,;RFC2,3_prime_UTR_variant,,ENST00000493156,;RFC2,3_prime_UTR_variant,,ENST00000491206,;RFC2,intron_variant,,ENST00000480432,;RFC2,intron_variant,,ENST00000494019,;							MODERATE	242/1065	G81D	RFC2_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000055077		CCDS5568.1			1	
KIAA1671	0	LGGM	GRCh37	22	25586729	25586729	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	25	4	.	.	ENST00000358431.3:c.5403T>G	p.Leu1801=	p.L1801=	ENST00000358431	NM_001145206.1	1801	ctT/ctG	0	1	1	UPI00002073DC	0		ENST00000358431		ENSG00000197077	29345		29			HGNC	p.L308L		KIAA1671		SNV							ENST00000401395	protein_coding			hmmpanther:PTHR22042:SF3,hmmpanther:PTHR22042		L		G		5429/10490							YES	KIAA1671,synonymous_variant,p.=,ENST00000358431,NM_001145206.1;KIAA1671,synonymous_variant,p.=,ENST00000406486,;KIAA1671,synonymous_variant,p.=,ENST00000401395,;KIAA1671,downstream_gene_variant,,ENST00000494730,;							LOW	5403/5421		K1671_HUMAN			Transcript			.	ENSP00000351207		CCDS46676.1			1	
DNAH12	0	LGGM	GRCh37	3	57509575	57509575	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	69	4	.	.	ENST00000311202.6:c.207G>T	p.Leu69=	p.L69=	ENST00000311202	NM_198564.3	69	ctG/ctT	0	1		UPI00017AA3A8	0		ENST00000351747		ENSG00000174844	2943		73			HGNC	p.L69L		DNAH12		SNV							ENST00000495027	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF250		L		A		388/9542				O15436_HUMAN				DNAH12,synonymous_variant,p.=,ENST00000351747,NM_178504.4;DNAH12,synonymous_variant,p.=,ENST00000495027,;DNAH12,synonymous_variant,p.=,ENST00000389536,;DNAH12,synonymous_variant,p.=,ENST00000311202,NM_198564.3;RNF7P1,upstream_gene_variant,,ENST00000478598,;							LOW	207/9279		DYH12_HUMAN			Transcript			.	ENSP00000295937					1	
NTNG1	0	LGGM	GRCh37	1	107691414	107691414	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	78	4	.	.	ENST00000370068.1:c.199C>T	p.Pro67Ser	p.P67S	ENST00000370068		67	Cct/Tct	0	1	1	UPI0000458A3E	0	getma.org/pdb.php?prot=NTNG1_HUMAN&from=50&to=295&var=P67S	ENST00000370068		ENSG00000162631	23319		82	1.905		HGNC	p.P67S		NTNG1		SNV			1				ENST00000370073	protein_coding	getma.org/?cm=var&var=hg19,1,107691414,C,T&fts=all		PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00136		P/S		T	medium	1045/4034		getma.org/?cm=msa&ty=f&p=NTNG1_HUMAN&rb=50&re=295&var=P67S	deleterious(0)	Q5IEC8_HUMAN			YES	NTNG1,missense_variant,p.Pro67Ser,ENST00000370067,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370068,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Pro67Ser,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Pro67Ser,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Pro67Ser,ENST00000542803,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370061,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370072,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370070,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370065,;NTNG1,missense_variant,p.Pro67Ser,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000462149,;NTNG1,downstream_gene_variant,,ENST00000370076,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;							MODERATE	199/1620	P67S	NTNG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359085		CCDS44180.1			1	
LRRTM4	0	LGGM	GRCh37	2	77746233	77746233	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	87	4	.	.	ENST00000409093.1:c.762C>T	p.Ser254=	p.S254=	ENST00000409093		254	tcC/tcT	0	1	1	UPI0000047808	0		ENST00000409093		ENSG00000176204	19411		91			HGNC	p.S255S		LRRTM4		SNV							ENST00000409282	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF1,SMART_domains:SM00369,Superfamily_domains:SSF52058		S		A		1099/2247				C9JM64_HUMAN			YES	LRRTM4,synonymous_variant,p.=,ENST00000409088,NM_024993.4,NM_001282928.1;LRRTM4,synonymous_variant,p.=,ENST00000409911,NM_001282924.1,NM_001134745.1;LRRTM4,synonymous_variant,p.=,ENST00000409282,;LRRTM4,synonymous_variant,p.=,ENST00000409093,;LRRTM4,synonymous_variant,p.=,ENST00000409884,;LRRTM4,downstream_gene_variant,,ENST00000456154,;							LOW	762/1773		LRRT4_HUMAN			Transcript			.	ENSP00000386357		CCDS46346.1			1	
COL27A1	0	LGGM	GRCh37	9	116999272	116999272	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	8	5	.	.	ENST00000356083.3:c.2631G>T	p.Gly877=	p.G877=	ENST00000356083	NM_032888.2	877	ggG/ggT	0	1	1	UPI0000062271	0		ENST00000356083		ENSG00000196739	22986		13			HGNC	p.G877G		COL27A1		SNV							ENST00000356083	protein_coding			Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362		G		T		3022/7790							YES	COL27A1,synonymous_variant,p.=,ENST00000356083,NM_032888.2;COL27A1,3_prime_UTR_variant,,ENST00000494090,;COL27A1,upstream_gene_variant,,ENST00000485397,;							LOW	2631/5583		CORA1_HUMAN			Transcript			.	ENSP00000348385		CCDS6802.1			1	
LRRC16B	0	LGGM	GRCh37	14	24522988	24522988	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	19	5	.	.	ENST00000342740.5:c.111C>T	p.Pro37=	p.P37=	ENST00000342740	NM_138360.3	37	ccC/ccT	0	1	1	UPI0000DBEF11	0		ENST00000342740		ENSG00000186648	20272		24			HGNC	p.P37P		LRRC16B		SNV							ENST00000342740	protein_coding			hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF32		P		T		265/4597							YES	LRRC16B,synonymous_variant,p.=,ENST00000342740,NM_138360.3;LRRC16B,5_prime_UTR_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,;							LOW	111/4119		LR16B_HUMAN			Transcript			.	ENSP00000340467		CCDS32054.1			1	
FAM188B2	0	LGGM	GRCh37	3	150608121	150608121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	5	6	.	.	ENST00000397891.3:c.427G>A	p.Asp143Asn	p.D143N	ENST00000397891		143	Gat/Aat	0	1	1	UPI00015E0933	0		ENST00000397891		ENSG00000214237	35475		11			HGNC	p.D143N	rs770827931	FAM188B2		SNV							ENST00000397891	protein_coding			Pfam_domain:PF13898,hmmpanther:PTHR12473,hmmpanther:PTHR12473:SF7		D/N		T		427/1071	0.000485		deleterious(0.03)	H3BNN4_HUMAN,H3BMX4_HUMAN			YES	FAM188B2,missense_variant,p.Asp143Asn,ENST00000397891,;FAM188B2,missense_variant,p.Asp59Asn,ENST00000465419,;CLRN1-AS1,intron_variant,,ENST00000476886,;RP11-166N6.2,upstream_gene_variant,,ENST00000469268,;RP11-166N6.3,3_prime_UTR_variant,,ENST00000569170,;RP11-166N6.3,3_prime_UTR_variant,,ENST00000562308,;RP11-166N6.3,downstream_gene_variant,,ENST00000565169,;							MODERATE	427/1071		F1882_HUMAN			Transcript		probably_damaging(0.976)	common_variant	ENSP00000454591	5.64E-05				1	
INTS1	0	LGGM	GRCh37	7	1539555	1539555	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	9	6	.	.	ENST00000404767.3:c.649G>C	p.Glu217Gln	p.E217Q	ENST00000404767	NM_001080453.2	217	Gag/Cag	0	1	1	UPI0000D7211C	0	NA	ENST00000404767		ENSG00000164880	24555		15	0.295		HGNC	p.E345Q		INTS1		SNV							ENST00000389470	protein_coding	getma.org/?cm=var&var=hg19,7,1539555,C,G&fts=all		hmmpanther:PTHR21224:SF1,hmmpanther:PTHR21224		E/Q		G	neutral	735/6959		getma.org/?cm=msa&ty=f&p=INT1_HUMAN&rb=201&re=349&var=E217Q	tolerated(0.42)				YES	INTS1,missense_variant,p.Glu345Gln,ENST00000389470,;INTS1,missense_variant,p.Glu217Gln,ENST00000404767,NM_001080453.2;INTS1,non_coding_transcript_exon_variant,,ENST00000493531,;INTS1,upstream_gene_variant,,ENST00000496988,;							MODERATE	649/6573	E217Q	INT1_HUMAN			Transcript		benign(0.01)	.	ENSP00000385722		CCDS47526.1			1	
PILRA	0	LGGM	GRCh37	7	99971708	99971708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	24	6	.	.	ENST00000198536.2:c.106A>G	p.Thr36Ala	p.T36A	ENST00000198536	NM_013439.2	36	Act/Gct	0	1	1	UPI000013C61C	0	getma.org/pdb.php?prot=PILRA_HUMAN&from=33&to=149&var=T36A	ENST00000198536		ENSG00000085514	20396		30	0.69		HGNC	p.T36A		PILRA		SNV							ENST00000394000	protein_coding	getma.org/?cm=var&var=hg19,7,99971708,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR15549,hmmpanther:PTHR15549:SF1,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726		T/A		G	neutral	318/1313		getma.org/?cm=msa&ty=f&p=PILRA_HUMAN&rb=33&re=149&var=T36A	tolerated(0.33)				YES	PILRA,missense_variant,p.Thr36Ala,ENST00000198536,NM_013439.2;PILRA,missense_variant,p.Thr36Ala,ENST00000453419,NM_178272.1;PILRA,missense_variant,p.Thr36Ala,ENST00000350573,;PILRA,missense_variant,p.Thr36Ala,ENST00000394000,NM_178273.1;PILRA,missense_variant,p.Thr36Ala,ENST00000432297,;PILRA,non_coding_transcript_exon_variant,,ENST00000474013,;PILRA,non_coding_transcript_exon_variant,,ENST00000484934,;							MODERATE	106/912	T36A	PILRA_HUMAN			Transcript		possibly_damaging(0.523)	.	ENSP00000198536		CCDS5691.1			1	
ATP2B4	0	LGGM	GRCh37	1	203668799	203668799	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	104	7	.	.	ENST00000357681.5:c.603C>G	p.Leu201=	p.L201=	ENST00000357681	NM_001684.4	201	ctC/ctG	0	1	1	UPI000002A464	0		ENST00000357681		ENSG00000058668	817		111			HGNC	p.L201L		ATP2B4		SNV							ENST00000357681	protein_coding			hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01494,Superfamily_domains:0049471		L		G		1726/8968				A1X4Q2_HUMAN			YES	ATP2B4,synonymous_variant,p.=,ENST00000357681,NM_001684.4;ATP2B4,synonymous_variant,p.=,ENST00000367218,NM_001001396.2;ATP2B4,synonymous_variant,p.=,ENST00000367219,;ATP2B4,synonymous_variant,p.=,ENST00000391954,;ATP2B4,synonymous_variant,p.=,ENST00000341360,;							LOW	603/3618		AT2B4_HUMAN			Transcript			.	ENSP00000350310		CCDS1440.1			1	
SYCP2	0	LGGM	GRCh37	20	58440666	58440666	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	51	7	.	.	ENST00000357552.3:c.4420T>C	p.Cys1474Arg	p.C1474R	ENST00000357552		1474	Tgt/Cgt	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		58	0.345		HGNC	p.C1474R		SYCP2		SNV							ENST00000357552	protein_coding	getma.org/?cm=var&var=hg19,20,58440666,A,G&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		C/R		G	neutral	4646/5567		getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=401&re=1529&var=C1474R	tolerated(0.1)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Cys1474Arg,ENST00000357552,;SYCP2,missense_variant,p.Cys1474Arg,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Cys160Arg,ENST00000412613,;							MODERATE	4420/4593	C1474R	SYCP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000350162		CCDS13482.1			1	
HEG1	0	LGGM	GRCh37	3	124732136	124732136	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	175	7	.	.	ENST00000311127.4:c.2287A>G	p.Met763Val	p.M763V	ENST00000311127	NM_020733.1	763	Atg/Gtg	0	1	1	UPI00006C069B	0	NA	ENST00000311127		ENSG00000173706	29227		182	0.69		HGNC	p.M763V		HEG1		SNV							ENST00000311127	protein_coding	getma.org/?cm=var&var=hg19,3,124732136,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24037:SF2,hmmpanther:PTHR24037		M/V		C	neutral	2355/9156		getma.org/?cm=msa&ty=f&p=HEG1_HUMAN&rb=211&re=971&var=M763V	tolerated(0.82)				YES	HEG1,missense_variant,p.Met763Val,ENST00000311127,NM_020733.1;HEG1,downstream_gene_variant,,ENST00000477536,;HEG1,upstream_gene_variant,,ENST00000488654,;							MODERATE	2287/4146	M763V	HEG1_HUMAN			Transcript		benign(0.002)	.	ENSP00000311502		CCDS46898.1			1	
SLIT1	0	LGGM	GRCh37	10	98781044	98781044	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	10	7	.	.	ENST00000266058.4:c.2709G>T	p.Leu903=	p.L903=	ENST00000266058	NM_003061.2	903	ctG/ctT	0	1	1	UPI00001F9491	0		ENST00000266058		ENSG00000187122	11085		17			HGNC	p.L903L		SLIT1		SNV							ENST00000371070	protein_coding			hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,Gene3D:2gy5A03,Pfam_domain:PF01463,SMART_domains:SM00082		L		A		2955/7925							YES	SLIT1,synonymous_variant,p.=,ENST00000266058,NM_003061.2;SLIT1,synonymous_variant,p.=,ENST00000371070,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;							LOW	2709/4605		SLIT1_HUMAN			Transcript			.	ENSP00000266058		CCDS7453.1			1	
FBXO33	0	LGGM	GRCh37	14	39870392	39870392	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	39	7	.	.	ENST00000298097.7:c.1384C>G	p.Leu462Val	p.L462V	ENST00000298097	NM_203301.3	462	Ctg/Gtg	0	1	1	UPI00001605E2	0	NA	ENST00000298097		ENSG00000165355	19833		46	1.845		HGNC	p.L462V		FBXO33		SNV							ENST00000298097	protein_coding	getma.org/?cm=var&var=hg19,14,39870392,G,C&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR20933		L/V		C	low	1722/3853		getma.org/?cm=msa&ty=f&p=FBX33_HUMAN&rb=315&re=514&var=L462V	deleterious(0)	B4DFK5_HUMAN			YES	FBXO33,missense_variant,p.Leu462Val,ENST00000298097,NM_203301.3;FBXO33,intron_variant,,ENST00000554190,;							MODERATE	1384/1668	L462V	FBX33_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000298097		CCDS9677.1			1	
TAAR6	0	LGGM	GRCh37	6	132892137	132892137	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	35	8	.	.	ENST00000275198.1:c.677G>T	p.Arg226Leu	p.R226L	ENST00000275198	NM_175067.1	226	cGa/cTa	0	1	1	UPI000000D881	0	getma.org/pdb.php?prot=TAAR6_HUMAN&from=49&to=311&var=R226L	ENST00000275198		ENSG00000146383	20978		43	1.585		HGNC	p.R226L		TAAR6		SNV							ENST00000275198	protein_coding	getma.org/?cm=var&var=hg19,6,132892137,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF78,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R/L		T	low	677/1038		getma.org/?cm=msa&ty=f&p=TAAR6_HUMAN&rb=49&re=311&var=R226L	tolerated(0.06)				YES	TAAR6,missense_variant,p.Arg226Leu,ENST00000275198,NM_175067.1;							MODERATE	677/1038	R226L	TAAR6_HUMAN			Transcript		benign(0.009)	.	ENSP00000275198		CCDS5155.1			1	
GUCY1A3	0	LGGM	GRCh37	4	156632247	156632247	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	32	8	.	.	ENST00000296518.7:c.930C>G	p.Asn310Lys	p.N310K	ENST00000296518		310	aaC/aaG	0	1	1	UPI0000033343	0	getma.org/pdb.php?prot=GCYA3_HUMAN&from=270&to=466&var=N310K	ENST00000296518		ENSG00000164116	4685		40	-0.28		HGNC	p.N310K		GUCY1A3		SNV			1				ENST00000511108	protein_coding	getma.org/?cm=var&var=hg19,4,156632247,C,G&fts=all		hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920,Pfam_domain:PF07701		N/K		G	neutral	1139/4400		getma.org/?cm=msa&ty=f&p=GCYA3_HUMAN&rb=270&re=466&var=N310K	tolerated(0.67)	Q9NNW8_HUMAN,J3KPQ8_HUMAN			YES	GUCY1A3,missense_variant,p.Asn310Lys,ENST00000296518,;GUCY1A3,missense_variant,p.Asn52Lys,ENST00000393832,NM_001130685.2;GUCY1A3,missense_variant,p.Asn310Lys,ENST00000511108,NM_000856.5;GUCY1A3,missense_variant,p.Asn310Lys,ENST00000506455,NM_001130682.2;GUCY1A3,missense_variant,p.Asn310Lys,ENST00000513574,NM_001130684.2;GUCY1A3,missense_variant,p.Asn310Lys,ENST00000455639,NM_001130683.3,NM_001256449.1;GUCY1A3,missense_variant,p.Asn310Lys,ENST00000511507,NM_001130687.2;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,;							MODERATE	930/2073	N310K	GCYA3_HUMAN			Transcript		benign(0.063)	.	ENSP00000296518		CCDS34085.1			1	
KIAA0319L	0	LGGM	GRCh37	1	35916106	35916106	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	33	8	.	.	ENST00000325722.3:c.2067A>T	p.Ile689=	p.I689=	ENST00000325722	NM_024874.4	689	atA/atT	0	1	1	UPI000003F081	0		ENST00000325722		ENSG00000142687	30071		41			HGNC	p.I689I		KIAA0319L		SNV			1				ENST00000325722	protein_coding			Pfam_domain:PF02010,hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083		I		A		2302/4789				E7EN73_HUMAN,C9JVB2_HUMAN,C9JQ56_HUMAN,C9J519_HUMAN,B1AN15_HUMAN			YES	KIAA0319L,synonymous_variant,p.=,ENST00000325722,NM_024874.4;KIAA0319L,synonymous_variant,p.=,ENST00000426982,;KIAA0319L,synonymous_variant,p.=,ENST00000373266,;KIAA0319L,downstream_gene_variant,,ENST00000440579,;KIAA0319L,non_coding_transcript_exon_variant,,ENST00000485551,;KIAA0319L,non_coding_transcript_exon_variant,,ENST00000492544,;KIAA0319L,upstream_gene_variant,,ENST00000473844,;KIAA0319L,downstream_gene_variant,,ENST00000467109,;KIAA0319L,upstream_gene_variant,,ENST00000474856,;							LOW	2067/3150		K319L_HUMAN			Transcript			.	ENSP00000318406		CCDS390.1			1	
STXBP4	0	LGGM	GRCh37	17	53077193	53077193	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	23	9	.	.	ENST00000376352.2:c.488C>G	p.Ser163Cys	p.S163C	ENST00000376352	NM_178509.5	163	tCt/tGt	0	1	1	UPI000050D3EE	0	NA	ENST00000376352		ENSG00000166263	19694		32	1.04		HGNC	p.S163C		STXBP4		SNV							ENST00000376352	protein_coding	getma.org/?cm=var&var=hg19,17,53077193,C,G&fts=all		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16		S/C		G	low	695/6243		getma.org/?cm=msa&ty=f&p=STXB4_HUMAN&rb=100&re=299&var=S163C	deleterious(0.02)				YES	STXBP4,missense_variant,p.Ser163Cys,ENST00000376352,NM_178509.5;STXBP4,missense_variant,p.Ser163Cys,ENST00000434978,;STXBP4,missense_variant,p.Ser163Cys,ENST00000405898,;STXBP4,missense_variant,p.Ser88Cys,ENST00000398391,;STXBP4,missense_variant,p.Ser88Cys,ENST00000299341,;STXBP4,missense_variant,p.Ser6Cys,ENST00000463234,;							MODERATE	488/1662	S163C	STXB4_HUMAN			Transcript		benign(0.325)	.	ENSP00000365530		CCDS11584.2			1	
MCAM	0	LGGM	GRCh37	11	119185282	119185282	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	18	9	.	.	ENST00000264036.4:c.476C>T	p.Ala159Val	p.A159V	ENST00000264036	NM_006500.2	159	gCt/gTt	0	1	1	UPI000013D4A8	0	getma.org/pdb.php?prot=MUC18_HUMAN&from=139&to=234&var=A159V	ENST00000264036		ENSG00000076706	6934		27	2.395		HGNC	p.A159V		MCAM		SNV							ENST00000264036	protein_coding	getma.org/?cm=var&var=hg19,11,119185282,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF18,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/V		A	medium	491/3311		getma.org/?cm=msa&ty=f&p=MUC18_HUMAN&rb=139&re=234&var=A159V	deleterious(0)				YES	MCAM,missense_variant,p.Ala159Val,ENST00000264036,NM_006500.2;MCAM,upstream_gene_variant,,ENST00000392814,;MCAM,non_coding_transcript_exon_variant,,ENST00000529295,;MCAM,non_coding_transcript_exon_variant,,ENST00000529257,;MCAM,non_coding_transcript_exon_variant,,ENST00000530706,;MCAM,downstream_gene_variant,,ENST00000530144,;MCAM,upstream_gene_variant,,ENST00000528976,;MCAM,downstream_gene_variant,,ENST00000526992,;MCAM,downstream_gene_variant,,ENST00000534522,;MCAM,downstream_gene_variant,,ENST00000525555,;MCAM,downstream_gene_variant,,ENST00000529686,;MCAM,downstream_gene_variant,,ENST00000528502,;MCAM,upstream_gene_variant,,ENST00000524940,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,non_coding_transcript_exon_variant,,ENST00000528533,;MCAM,downstream_gene_variant,,ENST00000530937,;MCAM,downstream_gene_variant,,ENST00000530006,;MCAM,downstream_gene_variant,,ENST00000526190,;							MODERATE	476/1941	A159V	MUC18_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000264036		CCDS31690.1			1	
TRMT13	0	LGGM	GRCh37	1	100605237	100605237	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	28	9	.	.	ENST00000370141.2:c.294A>C	p.Leu98Phe	p.L98F	ENST00000370141	NM_019083.2	98	ttA/ttC	0	1	1	UPI000013CAE6	0	NA	ENST00000370141		ENSG00000122435	25502		37	1.39		HGNC	p.L98F		TRMT13		SNV							ENST00000370141	protein_coding	getma.org/?cm=var&var=hg19,1,100605237,A,C&fts=all		hmmpanther:PTHR12998,hmmpanther:PTHR12998:SF0		L/F		C	low	300/3129		getma.org/?cm=msa&ty=f&p=TRM13_HUMAN&rb=82&re=164&var=L98F	tolerated(0.48)				YES	TRMT13,missense_variant,p.Leu98Phe,ENST00000370141,NM_019083.2;TRMT13,missense_variant,p.Leu67Phe,ENST00000370139,;TRMT13,missense_variant,p.Leu98Phe,ENST00000370143,;TRMT13,upstream_gene_variant,,ENST00000493651,;TRMT13,missense_variant,p.Leu98Phe,ENST00000482437,;							MODERATE	294/1446	L98F	TRM13_HUMAN			Transcript		benign(0.014)	.	ENSP00000359160		CCDS765.1			1	
MCF2L	0	LGGM	GRCh37	13	113718650	113718650	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	75	9	.	.	ENST00000535094.2:c.522C>T	p.His174=	p.H174=	ENST00000535094	NM_001112732.2	174	caC/caT	0	1		UPI0000458952	0		ENST00000375608		ENSG00000126217	14576	8.66E-05	84			HGNC	p.H174H	rs764301327,COSM201384,COSM201385	MCF2L	6.06E-05	SNV						0,1,1	ENST00000535094	protein_coding			PROSITE_profiles:PS50191,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087		H		T		670/3648	3.03E-05			B7ZBR9_HUMAN				MCF2L,synonymous_variant,p.=,ENST00000397030,;MCF2L,synonymous_variant,p.=,ENST00000375601,;MCF2L,synonymous_variant,p.=,ENST00000375604,;MCF2L,synonymous_variant,p.=,ENST00000535094,NM_001112732.2;MCF2L,synonymous_variant,p.=,ENST00000375608,;MCF2L,synonymous_variant,p.=,ENST00000423482,NM_024979.4;MCF2L,synonymous_variant,p.=,ENST00000434480,;MCF2L,synonymous_variant,p.=,ENST00000421756,;MCF2L,synonymous_variant,p.=,ENST00000442652,;MCF2L,synonymous_variant,p.=,ENST00000375597,;MCF2L,synonymous_variant,p.=,ENST00000423251,;MCF2L,downstream_gene_variant,,ENST00000409954,;MCF2L,upstream_gene_variant,,ENST00000475524,;MCF2L,non_coding_transcript_exon_variant,,ENST00000464800,;					0,1,1		LOW	612/3414		MCF2L_HUMAN			Transcript			.	ENSP00000364758	3.30E-05				1	
RB1	0	LGGM	GRCh37	13	48921968	48921968	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	21	9	.	.	ENST00000267163.4:c.508G>T	p.Glu170Ter	p.E170*	ENST00000267163	NM_000321.2	170	Gaa/Taa	0	1	1	UPI0000001C79	0	NA	ENST00000267163	pathogenic	ENSG00000139687	9884		30	0		HGNC	p.E170*	rs587778826	RB1		SNV			1			1	ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48921968,G,T&fts=all		hmmpanther:PTHR13742,Pfam_domain:PF11934		E/*		T	NA	646/4840		NA		Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,stop_gained,p.Glu170Ter,ENST00000267163,NM_000321.2;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;							HIGH	508/2787	E170*	RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
URB2	0	LGGM	GRCh37	1	229770724	229770724	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	23	10	.	.	ENST00000258243.2:c.364G>A	p.Val122Ile	p.V122I	ENST00000258243	NM_014777.2	122	Gtc/Atc	0	1	1	UPI000013CFBD	0	NA	ENST00000258243		ENSG00000135763	28967		33	1.445		HGNC	p.V122I		URB2		SNV							ENST00000258243	protein_coding	getma.org/?cm=var&var=hg19,1,229770724,G,A&fts=all		hmmpanther:PTHR15682		V/I		A	low	500/5613		getma.org/?cm=msa&ty=f&p=URB2_HUMAN&rb=120&re=298&var=V122I	tolerated(0.22)	Q5VYD0_HUMAN			YES	URB2,missense_variant,p.Val122Ile,ENST00000258243,NM_014777.2;							MODERATE	364/4575	V122I	URB2_HUMAN			Transcript		benign(0.019)	.	ENSP00000258243		CCDS31052.1			1	
CEP192	0	LGGM	GRCh37	18	13056114	13056114	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	26	11	.	.	ENST00000506447.1:c.3525G>T	p.Leu1175=	p.L1175=	ENST00000506447	NM_032142.3	1175	ctG/ctT	0	1	1	UPI0001B09235	0		ENST00000506447		ENSG00000101639	25515		37			HGNC	p.L1175L		CEP192		SNV							ENST00000506447	protein_coding			hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		L		T		3605/7960				E9PF99_HUMAN			YES	CEP192,synonymous_variant,p.=,ENST00000506447,NM_032142.3;CEP192,synonymous_variant,p.=,ENST00000325971,;CEP192,synonymous_variant,p.=,ENST00000430049,;CEP192,synonymous_variant,p.=,ENST00000511820,;CEP192,synonymous_variant,p.=,ENST00000589596,;CEP192,synonymous_variant,p.=,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,upstream_gene_variant,,ENST00000589993,;CEP192,upstream_gene_variant,,ENST00000585938,;							LOW	3525/7614					Transcript			.	ENSP00000427550		CCDS32792.2			1	
TRIM49	0	LGGM	GRCh37	11	89537535	89537535	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	33	11	.	.	ENST00000329758.1:c.103T>A	p.Cys35Ser	p.C35S	ENST00000329758	NM_020358.2	35	Tgc/Agc	0	1	1	UPI000013431B	0	getma.org/pdb.php?prot=TRI49_HUMAN&from=11&to=57&var=C35S	ENST00000329758		ENSG00000168930	13431		44	4.17		HGNC	p.C35S		TRIM49		SNV							ENST00000532501	protein_coding	getma.org/?cm=var&var=hg19,11,89537535,A,T&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Pfam_domain:PF15227,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850		C/S		T	high	432/2163		getma.org/?cm=msa&ty=f&p=TRI49_HUMAN&rb=11&re=57&var=C35S	deleterious(0)	I1YAQ5_HUMAN			YES	TRIM49,missense_variant,p.Cys35Ser,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Cys35Ser,ENST00000532501,;							MODERATE	103/1359	C35S	TRI49_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000327604		CCDS8287.1			1	
ZNF710	0	LGGM	GRCh37	15	90623002	90623002	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	24	11	.	.	ENST00000268154.4:c.1936G>A	p.Glu646Lys	p.E646K	ENST00000268154	NM_198526.2	646	Gag/Aag	0	1	1	UPI000013D7A4	0	NA	ENST00000268154		ENSG00000140548	25352	8.65E-05	35	0.345		HGNC	p.E646K	rs748861157	ZNF710		SNV							ENST00000268154	protein_coding	getma.org/?cm=var&var=hg19,15,90623002,G,A&fts=all		hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF43		E/K		A	neutral	2187/4617		getma.org/?cm=msa&ty=f&p=ZN710_HUMAN&rb=599&re=664&var=E646K	deleterious_low_confidence(0.02)	H0YKZ0_HUMAN			YES	ZNF710,missense_variant,p.Glu646Lys,ENST00000268154,NM_198526.2;IDH2,downstream_gene_variant,,ENST00000330062,NM_002168.2;IDH2,downstream_gene_variant,,ENST00000540499,;IDH2,downstream_gene_variant,,ENST00000539790,;IDH2,downstream_gene_variant,,ENST00000559482,;RP11-617F23.1,intron_variant,,ENST00000558334,;ZNF710,upstream_gene_variant,,ENST00000560908,;IDH2,downstream_gene_variant,,ENST00000560061,;							MODERATE	1936/1995	E646K	ZN710_HUMAN			Transcript		benign(0.007)	.	ENSP00000268154	8.24E-06	CCDS10358.1			1	
OR4K13	0	LGGM	GRCh37	14	20502304	20502304	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	31	11	.	.	ENST00000315693.2:c.614T>A	p.Leu205His	p.L205H	ENST00000315693	NM_001004714.1	205	cTc/cAc	0	1	1	UPI0000041CEB	0	NA	ENST00000315693		ENSG00000176253	15351		42	3.41		HGNC	p.L205H		OR4K13		SNV							ENST00000315693	protein_coding	getma.org/?cm=var&var=hg19,14,20502304,A,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		L/H		T	medium	616/917		getma.org/?cm=msa&ty=f&p=OR4KD_HUMAN&rb=139&re=280&var=L205H	deleterious(0)				YES	OR4K13,missense_variant,p.Leu205His,ENST00000315693,NM_001004714.1;AL359218.1,downstream_gene_variant,,ENST00000580563,;							MODERATE	614/915	L205H	OR4KD_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000319322		CCDS32028.1			1	
SLC9C1	0	LGGM	GRCh37	3	111996618	111996618	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	57	12	.	.	ENST00000305815.5:c.408T>C	p.Pro136=	p.P136=	ENST00000305815	NM_183061.1	136	ccT/ccC	0	1	1	UPI00002372C5	0		ENST00000305815		ENSG00000172139	31401		69			HGNC	p.P63P		SLC9C1		SNV							ENST00000486574	protein_coding			Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87		P		G		661/4172				C9J3M6_HUMAN			YES	SLC9C1,synonymous_variant,p.=,ENST00000305815,NM_183061.1;SLC9C1,synonymous_variant,p.=,ENST00000487372,;SLC9C1,synonymous_variant,p.=,ENST00000486574,;SLC9C1,downstream_gene_variant,,ENST00000467397,;SLC9C1,synonymous_variant,p.=,ENST00000471295,;							LOW	408/3534		SL9C1_HUMAN			Transcript			.	ENSP00000306627		CCDS33817.1			1	
KALRN	0	LGGM	GRCh37	3	124157792	124157792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	8	12	.	.	ENST00000240874.3:c.3100G>T	p.Gly1034Cys	p.G1034C	ENST00000240874	NM_003947.4	1034	Ggt/Tgt	0	1	1	UPI000012C095	0	NA	ENST00000240874		ENSG00000160145	4814		20	1.995		HGNC	p.G1025C		KALRN		SNV			1				ENST00000460856	protein_coding	getma.org/?cm=var&var=hg19,3,124157792,G,T&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49		G/C		T	medium	3257/6537		getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=1004&re=1129&var=G1034C	deleterious(0)				YES	KALRN,missense_variant,p.Gly1034Cys,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Gly1003Cys,ENST00000354186,;KALRN,missense_variant,p.Gly1034Cys,ENST00000240874,NM_003947.4;KALRN,missense_variant,p.Gly1025Cys,ENST00000460856,;KALRN,non_coding_transcript_exon_variant,,ENST00000393501,;							MODERATE	3100/4992	G1034C	KALRN_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000240874		CCDS3027.1			1	
ZC3H18	0	LGGM	GRCh37	16	88694373	88694373	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	34	12	.	.	ENST00000301011.5:c.2315G>A	p.Arg772Lys	p.R772K	ENST00000301011	NM_144604.3	772	aGg/aAg	0	1	1	UPI00001FF676	0	NA	ENST00000301011		ENSG00000158545	25091		46	1.7		HGNC	p.R15K		ZC3H18		SNV							ENST00000565583	protein_coding	getma.org/?cm=var&var=hg19,16,88694373,G,A&fts=all		hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10		R/K		A	low	2515/3729		getma.org/?cm=msa&ty=f&p=ZCH18_HUMAN&rb=1&re=951&var=R772K	deleterious_low_confidence(0.02)	H3BRH3_HUMAN,B3KRL4_HUMAN			YES	ZC3H18,missense_variant,p.Arg772Lys,ENST00000301011,NM_144604.3;ZC3H18,missense_variant,p.Arg796Lys,ENST00000452588,;ZC3H18,missense_variant,p.Arg15Lys,ENST00000565583,;ZC3H18,intron_variant,,ENST00000564341,;ZC3H18,downstream_gene_variant,,ENST00000567085,;ZC3H18,non_coding_transcript_exon_variant,,ENST00000566496,;ZC3H18,downstream_gene_variant,,ENST00000564161,;ZC3H18,upstream_gene_variant,,ENST00000566317,;ZC3H18,upstream_gene_variant,,ENST00000566660,;ZC3H18,downstream_gene_variant,,ENST00000563382,;							MODERATE	2315/2862	R772K	ZCH18_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000301011		CCDS10967.1			1	
STAB2	0	LGGM	GRCh37	12	104049239	104049239	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	52	12	.	.	ENST00000388887.2:c.1614C>T	p.Thr538=	p.T538=	ENST00000388887	NM_017564.9	538	acC/acT	0	1	1	UPI00001ADDF4	0		ENST00000388887		ENSG00000136011	18629		64			HGNC	p.T538T		STAB2		SNV							ENST00000388887	protein_coding			PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Pfam_domain:PF02469,Gene3D:2.30.180.10,Superfamily_domains:SSF82153		T		T		1818/8251				H0YIF3_HUMAN			YES	STAB2,synonymous_variant,p.=,ENST00000388887,NM_017564.9;RP11-341G23.2,intron_variant,,ENST00000551905,;							LOW	1614/7656		STAB2_HUMAN			Transcript			.	ENSP00000373539		CCDS31888.1			1	
RPS9	0	LGGM	GRCh37	19	54710357	54710357	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	29	14	.	.	ENST00000302907.4:c.407+27C>T		*136*	ENST00000302907	NM_001013.3			0	1	1	UPI00000040B2	0		ENST00000302907		ENSG00000170889	10442		43			HGNC	p.S145F		RPS9		SNV							ENST00000441429	protein_coding							T		-/829							YES	RPS9,missense_variant,p.Ser145Phe,ENST00000441429,;RPS9,intron_variant,,ENST00000402367,;RPS9,intron_variant,,ENST00000302907,NM_001013.3;RPS9,intron_variant,,ENST00000391752,;RPS9,intron_variant,,ENST00000391753,;RPS9,intron_variant,,ENST00000391751,;RPS9,non_coding_transcript_exon_variant,,ENST00000495002,;RPS9,non_coding_transcript_exon_variant,,ENST00000484121,;RPS9,intron_variant,,ENST00000448962,;RPS9,intron_variant,,ENST00000445961,;RPS9,intron_variant,,ENST00000436445,;RPS9,downstream_gene_variant,,ENST00000460761,;AC012314.19,downstream_gene_variant,,ENST00000413723,;							MODIFIER	-/585		RS9_HUMAN			Transcript			.	ENSP00000302896		CCDS12884.1			1	
FAM135B	0	LGGM	GRCh37	8	139164047	139164047	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	55	15	.	.	ENST00000395297.1:c.2671C>G	p.Pro891Ala	p.P891A	ENST00000395297	NM_015912.3	891	Ccc/Gcc	0	1	1	UPI000057A0DB	0	NA	ENST00000395297		ENSG00000147724	28029		70	0.975		HGNC	p.P891A		FAM135B		SNV							ENST00000276737	protein_coding	getma.org/?cm=var&var=hg19,8,139164047,G,C&fts=all		hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3		P/A		C	low	2842/6962		getma.org/?cm=msa&ty=f&p=F135B_HUMAN&rb=770&re=969&var=P891A	tolerated_low_confidence(0.1)	J3QSR3_HUMAN			YES	FAM135B,missense_variant,p.Pro891Ala,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Pro891Ala,ENST00000276737,;FAM135B,missense_variant,p.Pro201Ala,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;							MODERATE	2671/4221	P891A	F135B_HUMAN			Transcript		benign(0.004)	.	ENSP00000378710		CCDS6375.2			1	
KIAA0020	0	LGGM	GRCh37	9	2812258	2812258	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	64	15	.	.	ENST00000397885.2:c.1374C>A	p.Ile458=	p.I458=	ENST00000397885	NM_014878.4	458	atC/atA	0	1	1	UPI000013D67E	0		ENST00000397885		ENSG00000080608	29676		79			HGNC	p.I458I		KIAA0020		SNV							ENST00000397885	protein_coding			Superfamily_domains:SSF48371,SMART_domains:SM00025,Gene3D:1.25.10.10,Pfam_domain:PF08144,hmmpanther:PTHR13389,PROSITE_profiles:PS50302,PROSITE_profiles:PS50303		I		T		1581/2321				S4R3K8_HUMAN			YES	KIAA0020,synonymous_variant,p.=,ENST00000397885,NM_014878.4;KIAA0020,upstream_gene_variant,,ENST00000382032,;KIAA0020,upstream_gene_variant,,ENST00000490444,;							LOW	1374/1947		K0020_HUMAN			Transcript			.	ENSP00000380982		CCDS6448.2			1	
DNM1	0	LGGM	GRCh37	9	130984803	130984803	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	17	16	.	.	ENST00000372923.3:c.1056C>A	p.Asp352Glu	p.D352E	ENST00000372923	NM_004408.2	352	gaC/gaA	0	1	1	UPI000013CA31	0	getma.org/pdb.php?prot=DYN1_HUMAN&from=216&to=511&var=D352E	ENST00000372923		ENSG00000106976	2972		33	0.745		HGNC	p.D352E		DNM1		SNV			1				ENST00000486160	protein_coding	getma.org/?cm=var&var=hg19,9,130984803,C,A&fts=all		Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32		D/E		A	neutral	1148/3221		getma.org/?cm=msa&ty=f&p=DYN1_HUMAN&rb=216&re=511&var=D352E	tolerated(0.14)				YES	DNM1,missense_variant,p.Asp352Glu,ENST00000341179,NM_001005336.1;DNM1,missense_variant,p.Asp352Glu,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,missense_variant,p.Asp352Glu,ENST00000393594,NM_001288737.1;DNM1,missense_variant,p.Asp352Glu,ENST00000486160,;DNM1,missense_variant,p.Asp352Glu,ENST00000475805,NM_001288738.1;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;DNM1,upstream_gene_variant,,ENST00000482638,;							MODERATE	1056/2595	D352E	DYN1_HUMAN			Transcript		benign(0.134)	.	ENSP00000362014		CCDS6895.1			1	
C18orf8	0	LGGM	GRCh37	18	21098936	21098936	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	25	16	.	.	ENST00000269221.3:c.736C>T	p.Leu246=	p.L246=	ENST00000269221	NM_013326.4	246	Cta/Tta	0	1	1	UPI000013D80D	0		ENST00000269221		ENSG00000141452	24326		41			HGNC	p.L246L		C18orf8		SNV							ENST00000269221	protein_coding			hmmpanther:PTHR12897		L		T		846/2162							YES	C18orf8,synonymous_variant,p.=,ENST00000269221,NM_013326.4;C18orf8,synonymous_variant,p.=,ENST00000590868,NM_001276342.1;NPC1,intron_variant,,ENST00000591107,;NPC1,downstream_gene_variant,,ENST00000590723,;C18orf8,synonymous_variant,p.=,ENST00000590870,;C18orf8,3_prime_UTR_variant,,ENST00000589215,;C18orf8,3_prime_UTR_variant,,ENST00000589860,;C18orf8,downstream_gene_variant,,ENST00000587690,;							LOW	736/1974		MIC1_HUMAN			Transcript			.	ENSP00000269221		CCDS32803.1			1	
NALCN	0	LGGM	GRCh37	13	101721150	101721150	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	46	19	.	.	ENST00000251127.6:c.4227A>G	p.Glu1409=	p.E1409=	ENST00000251127	NM_052867.2	1409	gaA/gaG	0	1	1	UPI000004EBBD	0		ENST00000251127		ENSG00000102452	19082		65			HGNC	p.E1409E		NALCN		SNV			1				ENST00000251127	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324		E		C		4309/6816				B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;							LOW	4227/5217		NALCN_HUMAN			Transcript			.	ENSP00000251127		CCDS9498.1			1	
CHP1	0	LGGM	GRCh37	15	41562809	41562809	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	31	20	.	.	ENST00000334660.5:c.404T>A	p.Leu135Gln	p.L135Q	ENST00000334660	NM_007236.4	135	cTg/cAg	0	1	1	UPI000013D461	0	getma.org/pdb.php?prot=CHP1_HUMAN&from=114&to=142&var=L135Q	ENST00000334660		ENSG00000187446	17433		51	4.05		HGNC	p.L135Q		CHP1		SNV							ENST00000560397	protein_coding	getma.org/?cm=var&var=hg19,15,41562809,T,A&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF17,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473		L/Q		A	high	644/3284		getma.org/?cm=msa&ty=f&p=CHP1_HUMAN&rb=94&re=162&var=L135Q	deleterious(0)				YES	CHP1,missense_variant,p.Leu135Gln,ENST00000334660,NM_007236.4;CHP1,missense_variant,p.Leu135Gln,ENST00000560397,;CHP1,missense_variant,p.Leu89Gln,ENST00000560965,;CHP1,non_coding_transcript_exon_variant,,ENST00000558351,;CHP1,non_coding_transcript_exon_variant,,ENST00000560633,;CHP1,3_prime_UTR_variant,,ENST00000560411,;CHP1,3_prime_UTR_variant,,ENST00000560784,;CHP1,intron_variant,,ENST00000392151,;							MODERATE	404/588	L135Q	CHP1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000335632		CCDS10073.1			1	
RNF213	0	LGGM	GRCh37	17	78280222	78280222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	45	20	.	.	ENST00000582970.1:c.2381G>T	p.Gly794Val	p.G794V	ENST00000582970	NM_001256071.1	794	gGg/gTg	0	1	1	UPI0001D3BDB1	0	NA	ENST00000582970		ENSG00000173821	14539		65	2.075		HGNC	p.G794V		RNF213		SNV			1				ENST00000456466	protein_coding	getma.org/?cm=var&var=hg19,17,78280222,G,T&fts=all		hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		G/V		T	medium	2524/21055		getma.org/?cm=msa&ty=f&p=RN213_HUMAN&rb=1&re=1691&var=G794V		H3BLU6_HUMAN			YES	RNF213,missense_variant,p.Gly794Val,ENST00000582970,NM_001256071.1;RNF213,missense_variant,p.Gly843Val,ENST00000508628,;RNF213,missense_variant,p.Gly794Val,ENST00000319921,NM_020954.3;RNF213,missense_variant,p.Gly794Val,ENST00000456466,;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,;							MODERATE	2381/15624	G794V	RN213_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000464087		CCDS58606.1			1	
PCDHB2	0	LGGM	GRCh37	5	140476401	140476401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	91	21	.	.	ENST00000194155.4:c.2027C>T	p.Pro676Leu	p.P676L	ENST00000194155	NM_018936.2	676	cCg/cTg	0	1	1	UPI00001273DC	0	NA	ENST00000194155		ENSG00000112852	8687		112	2.995		HGNC	p.P676L	rs13176756	PCDHB2		SNV							ENST00000194155	protein_coding	getma.org/?cm=var&var=hg19,5,140476401,C,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,Low_complexity_(Seg):seg		P/L		T	medium	2175/2736	1.57E-05	getma.org/?cm=msa&ty=f&p=PCDB2_HUMAN&rb=666&re=798&var=P676L	deleterious_low_confidence(0.01)				YES	PCDHB2,missense_variant,p.Pro676Leu,ENST00000194155,NM_018936.2;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.2;AC005754.7,downstream_gene_variant,,ENST00000607216,;							MODERATE	2027/2397	P676L	PCDB2_HUMAN			Transcript		benign(0.117)	.	ENSP00000194155	8.26E-06	CCDS4244.1			1	
BAZ2B	0	LGGM	GRCh37	2	160295201	160295201	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	62	22	.	.	ENST00000392783.2:c.906A>G	p.Leu302=	p.L302=	ENST00000392783	NM_013450.2	302	ctA/ctG	0	1	1	UPI0000D74C4A	0		ENST00000392783		ENSG00000123636	963		84			HGNC	p.L300L	rs748200552	BAZ2B	0.00031	SNV							ENST00000343439	protein_coding			hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144		L		C		1402/8289				Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,synonymous_variant,p.=,ENST00000392783,NM_013450.2;BAZ2B,synonymous_variant,p.=,ENST00000392782,;BAZ2B,synonymous_variant,p.=,ENST00000355831,;BAZ2B,synonymous_variant,p.=,ENST00000343439,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000482503,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000467184,;BAZ2B,upstream_gene_variant,,ENST00000472953,;							LOW	906/6507		BAZ2B_HUMAN			Transcript			.	ENSP00000376534	4.14E-05	CCDS2209.2			1	
CUL4A	0	LGGM	GRCh37	13	113909407	113909407	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	46	22	.	.	ENST00000375440.4:c.1999A>G	p.Ile667Val	p.I667V	ENST00000375440	NM_001008895.2	667	Ata/Gta	0	1	1	UPI000021C449	0	getma.org/pdb.php?prot=CUL4A_HUMAN&from=662&to=687&var=I667V	ENST00000375440		ENSG00000139842	2554		68	1.325		HGNC	p.I667V		CUL4A		SNV							ENST00000375440	protein_coding	getma.org/?cm=var&var=hg19,13,113909407,A,G&fts=all		hmmpanther:PTHR11932:SF68,hmmpanther:PTHR11932,Gene3D:1.10.10.10,Superfamily_domains:SSF75632		I/V		G	low	2083/2364		getma.org/?cm=msa&ty=f&p=CUL4A_HUMAN&rb=632&re=717&var=I667V	deleterious(0.04)	B4DKT2_HUMAN			YES	CUL4A,missense_variant,p.Ile567Val,ENST00000451881,NM_003589.2,NM_001278514.1;CUL4A,missense_variant,p.Ile567Val,ENST00000326335,;CUL4A,missense_variant,p.Ile567Val,ENST00000375441,NM_001278513.1;CUL4A,missense_variant,p.Ile667Val,ENST00000375440,NM_001008895.2;CUL4A,non_coding_transcript_exon_variant,,ENST00000472083,;CUL4A,downstream_gene_variant,,ENST00000470067,;							MODERATE	1999/2280	I667V	CUL4A_HUMAN			Transcript		benign(0.227)	.	ENSP00000364589		CCDS41908.1			1	
SUPT6H	0	LGGM	GRCh37	17	27023939	27023939	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	42	25	.	.	ENST00000314616.6:c.4048A>G	p.Met1350Val	p.M1350V	ENST00000314616	NM_003170.3	1350	Atg/Gtg	0	1	1	UPI000015FFA7	0	getma.org/pdb.php?prot=SPT6H_HUMAN&from=1334&to=1415&var=M1350V	ENST00000314616		ENSG00000109111	11470		67	2.16		HGNC	p.M1350V		SUPT6H		SNV							ENST00000314616	protein_coding	getma.org/?cm=var&var=hg19,17,27023939,A,G&fts=all		Superfamily_domains:SSF55550,SMART_domains:SM00252,PIRSF_domain:PIRSF036947,Gene3D:3.30.505.10,Pfam_domain:PF14633,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145,PROSITE_profiles:PS50001		M/V		G	medium	4331/6518		getma.org/?cm=msa&ty=f&p=SPT6H_HUMAN&rb=1334&re=1415&var=M1350V	tolerated(0.06)	J3QS64_HUMAN			YES	SUPT6H,missense_variant,p.Met1350Val,ENST00000314616,NM_003170.3;SUPT6H,missense_variant,p.Met1350Val,ENST00000347486,;SUPT6H,upstream_gene_variant,,ENST00000581510,;SUPT6H,upstream_gene_variant,,ENST00000583340,;SUPT6H,downstream_gene_variant,,ENST00000580471,;							MODERATE	4048/5181	M1350V	SPT6H_HUMAN			Transcript		benign(0.196)	.	ENSP00000319104		CCDS32596.1			1	
C1orf162	0	LGGM	GRCh37	1	112020383	112020383	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	48	26	.	.	ENST00000343534.5:c.313G>T	p.Asp105Tyr	p.D105Y	ENST00000343534	NM_174896.2	105	Gat/Tat	0	1	1	UPI0000072E7B	0	NA	ENST00000343534		ENSG00000143110	28344		74	0.805		HGNC	p.D80Y		C1orf162		SNV							ENST00000369718	protein_coding	getma.org/?cm=var&var=hg19,1,112020383,G,T&fts=all				D/Y		T	low	563/1107		getma.org/?cm=msa&ty=f&p=CA162_HUMAN&rb=1&re=154&var=D105Y	deleterious(0)				YES	C1orf162,missense_variant,p.Asp105Tyr,ENST00000343534,NM_174896.2;C1orf162,missense_variant,p.Asp80Tyr,ENST00000369718,;C1orf162,intron_variant,,ENST00000464591,;							MODERATE	313/468	D105Y	CA162_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000344218		CCDS837.1			1	
ACTRT3	0	LGGM	GRCh37	3	169485557	169485557	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H061840	H061840N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	62	27	.	.	ENST00000330368.2:c.782C>T	p.Pro261Leu	p.P261L	ENST00000330368	NM_032487.4	261	cCg/cTg	0	1	1	UPI000004EE04	0	getma.org/pdb.php?prot=ARPM1_HUMAN&from=4&to=372&var=P261L	ENST00000330368		ENSG00000184378	24022		89	3.315		HGNC	p.P261L	rs369171417	ACTRT3		SNV	A:0.0002			9.64E-05			ENST00000330368	protein_coding	getma.org/?cm=var&var=hg19,3,169485557,G,A&fts=all		hmmpanther:PTHR11937:SF159,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		P/L	A:0	A	medium	1157/2005		getma.org/?cm=msa&ty=f&p=ARPM1_HUMAN&rb=4&re=372&var=P261L	deleterious(0.01)				YES	ACTRT3,missense_variant,p.Pro261Leu,ENST00000330368,NM_032487.4;TERC,upstream_gene_variant,,ENST00000602385,;RP11-816J6.3,upstream_gene_variant,,ENST00000602879,;TERC,upstream_gene_variant,,ENST00000363312,;							MODERATE	782/1119	P261L	ACTT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333037	8.24E-06	CCDS3206.1			1	
RPL5	0	LGGM	GRCh37	1	93306109	93306119	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	TGGAGGAGATG	TGGAGGAGATG	-	novel	by Submitter	H061840	H061840N.bam	TGGAGGAGATG	TGGAGGAGATG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	58	28	.	.	ENST00000370321.3:c.708_718del	p.Met236IlefsTer2	p.M236Ifs*2	ENST00000370321	NM_000969.3	236	aTGGAGGAGATG/a	0	1	1	UPI00000702C9	0		ENST00000370321		ENSG00000122406	10360		86			HGNC	p.236_239del		RPL5		deletion			1				ENST00000370321	protein_coding			Gene3D:3.30.420.100,HAMAP:MF_01337_A,Pfam_domain:PF14204,hmmpanther:PTHR23410,Superfamily_domains:SSF53137		MEEM/X		-		797-807/1043				R4GNJ2_HUMAN,Q5T7N0_HUMAN,Q8WYP1_HUMAN,B3KTM6_HUMAN,A2RUM7_HUMAN			YES	RPL5,frameshift_variant,p.Met236IlefsTer2,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,downstream_gene_variant,,ENST00000515986,;RPL5,splice_region_variant,,ENST00000497519,;RPL5,downstream_gene_variant,,ENST00000461952,;RPL5,downstream_gene_variant,,ENST00000470843,;							HIGH	707-717/894		RL5_HUMAN			Transcript	1		.	ENSP00000359345		CCDS741.1			1	
VPRBP	0	LGGM	GRCh37	3	51458098	51458098	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	86	34	.	.	ENST00000423656.1:c.1039A>G	p.Ser347Gly	p.S347G	ENST00000423656		347	Agt/Ggt	0	1	1	UPI000020AC56	0	NA	ENST00000423656		ENSG00000145041	30911		120	1.465		HGNC	p.S347G		VPRBP		SNV							ENST00000423656	protein_coding	getma.org/?cm=var&var=hg19,3,51458098,T,C&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4		S/G		C	low	1039/4529		getma.org/?cm=msa&ty=f&p=VPRBP_HUMAN&rb=601&re=800&var=S776G	tolerated(0.23)	H0Y4P3_HUMAN			YES	VPRBP,missense_variant,p.Ser347Gly,ENST00000423656,;VPRBP,missense_variant,p.Ser327Gly,ENST00000335891,;							MODERATE	1039/3237	S776G				Transcript		benign(0.346)	.	ENSP00000393183					1	
WWP1	0	LGGM	GRCh37	8	87410647	87410647	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	79	38	.	.	ENST00000517970.1:c.411T>C	p.Val137=	p.V137=	ENST00000517970	NM_007013.3	137	gtT/gtC	0	1		UPI0000035537	0		ENST00000265428		ENSG00000123124	17004		117			HGNC	p.V137V	rs759822447	WWP1	6.06E-05	SNV							ENST00000265428	protein_coding			hmmpanther:PTHR11254:SF299,hmmpanther:PTHR11254,Gene3D:2.60.40.150,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF49562		V		C		421/3362				H0YBS9_HUMAN				WWP1,synonymous_variant,p.=,ENST00000517970,NM_007013.3;WWP1,synonymous_variant,p.=,ENST00000265428,;WWP1,intron_variant,,ENST00000341922,;WWP1,intron_variant,,ENST00000349423,;WWP1,non_coding_transcript_exon_variant,,ENST00000518683,;							LOW	411/2769		WWP1_HUMAN			Transcript			.	ENSP00000265428	8.24E-06	CCDS6242.1			1	
EFHB	0	LGGM	GRCh37	3	19975033	19975033	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	102	40	.	.	ENST00000295824.9:c.478A>C	p.Lys160Gln	p.K160Q	ENST00000295824	NM_144715.3	160	Aag/Cag	0	1	1	UPI0000209A4C	0	NA	ENST00000295824		ENSG00000163576	26330		142	0.125		HGNC	p.K160Q		EFHB		SNV							ENST00000389256	protein_coding	getma.org/?cm=var&var=hg19,3,19975033,T,G&fts=all		hmmpanther:PTHR12086:SF10,hmmpanther:PTHR12086		K/Q		G	neutral	640/2823		getma.org/?cm=msa&ty=f&p=EFHB_HUMAN&rb=1&re=200&var=K160Q	tolerated_low_confidence(0.15)				YES	EFHB,missense_variant,p.Lys160Gln,ENST00000295824,NM_144715.3;EFHB,missense_variant,p.Lys160Gln,ENST00000389256,;EFHB,intron_variant,,ENST00000344838,;EFHB,upstream_gene_variant,,ENST00000440022,;EFHB,non_coding_transcript_exon_variant,,ENST00000498089,;							MODERATE	478/2502	K160Q	EFHB_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000295824		CCDS33715.2			1	
DDHD1	0	LGGM	GRCh37	14	53529830	53529830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H061840	H061840N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	88	42	.	.	ENST00000323669.5:c.1597A>G	p.Ile533Val	p.I533V	ENST00000323669	NM_001160148.1	533	Ata/Gta	0	1	1	UPI00001D7B55	0	NA	ENST00000323669		ENSG00000100523	19714		130	1.62		HGNC	p.I540V	rs770043699	DDHD1		SNV			1	9.61E-05			ENST00000395606	protein_coding	getma.org/?cm=var&var=hg19,14,53529830,T,C&fts=all		hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF4		I/V		C	low	1597/5503		getma.org/?cm=msa&ty=f&p=DDHD1_HUMAN&rb=401&re=600&var=I533V	tolerated(0.17)	G3V2P6_HUMAN			YES	DDHD1,missense_variant,p.Ile533Val,ENST00000357758,NM_030637.2;DDHD1,missense_variant,p.Ile540Val,ENST00000395606,NM_001160147.1;DDHD1,missense_variant,p.Ile533Val,ENST00000323669,NM_001160148.1;DDHD1,non_coding_transcript_exon_variant,,ENST00000556027,;DDHD1,upstream_gene_variant,,ENST00000555400,;							MODERATE	1597/2703	I533V	DDHD1_HUMAN			Transcript		possibly_damaging(0.464)	.	ENSP00000327104	8.24E-06	CCDS53895.1			1	
ASXL2	0	LGGM	GRCh37	2	26022338	26022338	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H061840	H061840N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	77	57	.	.	ENST00000435504.4:c.319G>T	p.Asp107Tyr	p.D107Y	ENST00000435504		107	Gat/Tat	0	1	1	UPI00001DFBE8	0	NA	ENST00000435504		ENSG00000143970	23805		134	1.59		HGNC	p.D107Y		ASXL2		SNV							ENST00000435504	protein_coding	getma.org/?cm=var&var=hg19,2,26022338,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578		D/Y		A	low	613/12878		getma.org/?cm=msa&ty=f&p=ASXL2_HUMAN&rb=1&re=200&var=D107Y	deleterious(0)				YES	ASXL2,missense_variant,p.Asp107Tyr,ENST00000435504,;ASXL2,missense_variant,p.Asp79Tyr,ENST00000336112,NM_018263.4;ASXL2,5_prime_UTR_variant,,ENST00000272341,;ASXL2,non_coding_transcript_exon_variant,,ENST00000497092,;							MODERATE	319/4308	D107Y	ASXL2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000391447					1	
MUC16	0	LGGM	GRCh37	19	9070928	9070928	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	34	57	.	.	ENST00000397910.4:c.16518T>C	p.Thr5506=	p.T5506=	ENST00000397910	NM_024690.2	5506	acT/acC	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		91			HGNC	p.T5506T		MUC16		SNV							ENST00000397910	protein_coding					T		G		16722/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	16518/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33572600	33572600	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H061840	H061840N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H061840N.bam, H061840T.bam	Illumina HiSeq	59	62	.	.	ENST00000321505.4:c.2625A>G	p.Glu875=	p.E875=	ENST00000321505		875	gaA/gaG	0	1	1	UPI0000E59322	0		ENST00000321505		ENSG00000110427	24836		121			HGNC	p.E881E		KIAA1549L		SNV							ENST00000389726	protein_coding			hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		E		G		2805/11678							YES	KIAA1549L,synonymous_variant,p.=,ENST00000321505,;KIAA1549L,synonymous_variant,p.=,ENST00000389726,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000265654,;KIAA1549L,synonymous_variant,p.=,ENST00000526400,;							LOW	2625/5550		K154L_HUMAN			Transcript			.	ENSP00000315295		CCDS44565.2			1	
POLR3E	0	LGGM	GRCh37	16	22337175	22337175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	2	2	.	.	ENST00000299853.5:c.1442G>T	p.Arg481Leu	p.R481L	ENST00000299853	NM_001258033.1	481	cGg/cTg	0	1	1	UPI000006D8F8	0	NA	ENST00000299853		ENSG00000058600	30347		4	1.79		HGNC	p.R445L		POLR3E		SNV							ENST00000418581	protein_coding	getma.org/?cm=var&var=hg19,16,22337175,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12069,Low_complexity_(Seg):seg		R/L		T	low	1609/3697		getma.org/?cm=msa&ty=f&p=RPC5_HUMAN&rb=435&re=634&var=R481L	tolerated(0.26)	H3BSI5_HUMAN,H3BRY1_HUMAN,H3BNJ0_HUMAN			YES	POLR3E,missense_variant,p.Arg481Leu,ENST00000299853,NM_001258033.1,NM_001258035.1,NM_018119.3;POLR3E,missense_variant,p.Arg445Leu,ENST00000418581,NM_001258034.1;POLR3E,missense_variant,p.Arg481Leu,ENST00000359210,NM_001258036.1;POLR3E,missense_variant,p.Arg481Leu,ENST00000564209,;POLR3E,downstream_gene_variant,,ENST00000569757,;POLR3E,3_prime_UTR_variant,,ENST00000564750,;POLR3E,non_coding_transcript_exon_variant,,ENST00000564061,;POLR3E,downstream_gene_variant,,ENST00000569787,;POLR3E,upstream_gene_variant,,ENST00000563282,;							MODERATE	1442/2127	R481L	RPC5_HUMAN			Transcript		benign(0.031)	.	ENSP00000299853		CCDS10605.1			1	
BCAR1	0	LGGM	GRCh37	16	75263514	75263514	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	5	2	.	.	ENST00000418647.3:c.2646G>T	p.Gln882His	p.Q882H	ENST00000418647	NM_001170714.1	882	caG/caT	0	1		UPI00001FFC1B	0	getma.org/pdb.php?prot=BCAR1_HUMAN&from=648&to=865&var=Q836H	ENST00000162330		ENSG00000050820	971		7	0.98		HGNC	p.Q688H		BCAR1		SNV							ENST00000535626	protein_coding	getma.org/?cm=var&var=hg19,16,75263514,C,A&fts=all		Pfam_domain:PF12026,hmmpanther:PTHR10654,hmmpanther:PTHR10654:SF5		Q/H		A	low	2635/3221		getma.org/?cm=msa&ty=f&p=BCAR1_HUMAN&rb=648&re=865&var=Q836H	tolerated(1)	Q8NC57_HUMAN,H3BVF0_HUMAN,H3BU42_HUMAN,H3BTL5_HUMAN,H3BTB0_HUMAN,H3BSY4_HUMAN,H3BSB2_HUMAN,H3BQJ7_HUMAN,F5H855_HUMAN				BCAR1,missense_variant,p.Gln807His,ENST00000546196,;BCAR1,missense_variant,p.Gln882His,ENST00000418647,NM_001170714.1;BCAR1,missense_variant,p.Gln836His,ENST00000162330,NM_001170717.1,NM_014567.3;BCAR1,missense_variant,p.Gln854His,ENST00000393422,NM_001170715.1;BCAR1,missense_variant,p.Gln836His,ENST00000538440,NM_001170718.1;BCAR1,missense_variant,p.Gln688His,ENST00000535626,NM_001170720.1;BCAR1,missense_variant,p.Gln834His,ENST00000542031,NM_001170719.1;BCAR1,missense_variant,p.Gln854His,ENST00000420641,NM_001170716.1;BCAR1,missense_variant,p.Gln854His,ENST00000393420,;CTRB1,downstream_gene_variant,,ENST00000361017,NM_001906.4;BCAR1,non_coding_transcript_exon_variant,,ENST00000566982,;RP11-331F4.4,downstream_gene_variant,,ENST00000489723,;BCAR1,3_prime_UTR_variant,,ENST00000562556,;BCAR1,non_coding_transcript_exon_variant,,ENST00000563038,;RP11-331F4.4,downstream_gene_variant,,ENST00000498687,;RP11-331F4.4,downstream_gene_variant,,ENST00000467381,;RP11-331F4.4,downstream_gene_variant,,ENST00000463353,;							MODERATE	2508/2613	Q836H	BCAR1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000162330		CCDS10915.1			1	
GRM5	0	LGGM	GRCh37	11	88242023	88242023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	4	2	.	.	ENST00000418177.2:c.3376G>T	p.Gly1126Cys	p.G1126C	ENST00000418177		1126	Ggc/Tgc	0	1		UPI000012F081	0	NA	ENST00000305447		ENSG00000168959	4597		6	0.55		HGNC	p.G1126C		GRM5		SNV							ENST00000418177	protein_coding	getma.org/?cm=var&var=hg19,11,88242023,C,A&fts=all		Low_complexity_(Seg):seg		G/C		A	neutral	3526/4571		getma.org/?cm=msa&ty=f&p=GRM5_HUMAN&rb=1026&re=1161&var=G1126C	deleterious_low_confidence(0.05)					GRM5,missense_variant,p.Gly1126Cys,ENST00000418177,;GRM5,missense_variant,p.Gly1094Cys,ENST00000455756,NM_000842.3;GRM5,missense_variant,p.Gly1126Cys,ENST00000305447,NM_001143831.2;GRM5,missense_variant,p.Gly1094Cys,ENST00000305432,;GRM5,intron_variant,,ENST00000393297,;GRM5-AS1,non_coding_transcript_exon_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;							MODERATE	3376/3639	G1126C	GRM5_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000306138		CCDS44694.1			1	
MAGEB2	0	LGGM	GRCh37	X	30237270	30237270	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	16	2	.	.	ENST00000378988.4:c.573C>G	p.Ser191=	p.S191=	ENST00000378988	NM_002364.4	191	tcC/tcG	0	1	1	UPI000013C683	0		ENST00000378988		ENSG00000099399	6809		18			HGNC	p.S191S		MAGEB2		SNV							ENST00000378988	protein_coding			Pfam_domain:PF01454,hmmpanther:PTHR11736:SF22,hmmpanther:PTHR11736,PROSITE_profiles:PS50838		S		G		674/1610							YES	MAGEB2,synonymous_variant,p.=,ENST00000378988,NM_002364.4;							LOW	573/960		MAGB2_HUMAN			Transcript			.	ENSP00000368273		CCDS14219.1			1	
PDLIM7	0	LGGM	GRCh37	5	176916832	176916832	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	0	2	.	.	ENST00000355841.2:c.574C>A	p.Gln192Lys	p.Q192K	ENST00000355841	NM_005451.4	192	Cag/Aag	0	1	1	UPI0000073DEF	0	NA	ENST00000355841		ENSG00000196923	22958		2	1.5		HGNC	p.Q192K		PDLIM7		SNV							ENST00000355841	protein_coding	getma.org/?cm=var&var=hg19,5,176916832,G,T&fts=all		hmmpanther:PTHR24214		Q/K		T	low	641/1689		getma.org/?cm=msa&ty=f&p=PDLI7_HUMAN&rb=83&re=281&var=Q192K	tolerated(0.47)	D6RF83_HUMAN,D6RAN1_HUMAN			YES	PDLIM7,missense_variant,p.Gln192Lys,ENST00000355841,NM_005451.4;PDLIM7,missense_variant,p.Gln158Lys,ENST00000359895,NM_203352.2;PDLIM7,missense_variant,p.Gln281Lys,ENST00000505074,;PDLIM7,intron_variant,,ENST00000356618,;PDLIM7,intron_variant,,ENST00000393551,;PDLIM7,downstream_gene_variant,,ENST00000355572,NM_213636.2;PDLIM7,downstream_gene_variant,,ENST00000506161,;PDLIM7,downstream_gene_variant,,ENST00000393546,;PDLIM7,downstream_gene_variant,,ENST00000506537,;PDLIM7,upstream_gene_variant,,ENST00000505746,;PDLIM7,splice_region_variant,,ENST00000493815,;PDLIM7,3_prime_UTR_variant,,ENST00000486828,;PDLIM7,downstream_gene_variant,,ENST00000463411,;PDLIM7,downstream_gene_variant,,ENST00000503346,;PDLIM7,downstream_gene_variant,,ENST00000504318,;PDLIM7,downstream_gene_variant,,ENST00000503827,;							MODERATE	574/1374	Q192K	PDLI7_HUMAN			Transcript		benign(0.005)	.	ENSP00000348099		CCDS4422.1			1	
FBLN2	0	LGGM	GRCh37	3	13660403	13660403	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	14	3	.	.	ENST00000404922.3:c.1940-1G>T		p.X647_splice	ENST00000404922	NM_001004019.1			0	1		UPI000042B0C2	0		ENST00000295760		ENSG00000163520	3601		17			HGNC	-		FBLN2		SNV							ENST00000535798	protein_coding							T		-/4127				C9JQS6_HUMAN				FBLN2,splice_acceptor_variant,,ENST00000404922,NM_001004019.1;FBLN2,splice_acceptor_variant,,ENST00000492059,NM_001165035.1;FBLN2,splice_acceptor_variant,,ENST00000295760,NM_001998.2;FBLN2,splice_acceptor_variant,,ENST00000535798,;FBLN2,splice_acceptor_variant,,ENST00000477845,;							HIGH	1940/3555		FBLN2_HUMAN			Transcript			.	ENSP00000295760		CCDS46762.1			1	
ZFYVE28	0	LGGM	GRCh37	4	2275810	2275810	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	26	3	.	.	ENST00000290974.2:c.2185C>A	p.Arg729Ser	p.R729S	ENST00000290974	NM_020972.2	729	Cgc/Agc	0	1	1	UPI00001C1E08	0	NA	ENST00000290974		ENSG00000159733	29334		29	1.965		HGNC	p.R699S		ZFYVE28		SNV							ENST00000511071	protein_coding	getma.org/?cm=var&var=hg19,4,2275810,G,T&fts=all		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF140		R/S		T	medium	2525/4131		getma.org/?cm=msa&ty=f&p=LST2_HUMAN&rb=707&re=811&var=R729S	deleterious(0.01)	Q49AA1_HUMAN,D6RID3_HUMAN			YES	ZFYVE28,missense_variant,p.Arg729Ser,ENST00000290974,NM_020972.2;ZFYVE28,missense_variant,p.Arg34Ser,ENST00000508471,;ZFYVE28,missense_variant,p.Arg699Ser,ENST00000511071,NM_001172656.1;ZFYVE28,missense_variant,p.Arg659Ser,ENST00000515312,NM_001172659.1;ZFYVE28,upstream_gene_variant,,ENST00000514248,;							MODERATE	2185/2664	R729S	LST2_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000290974		CCDS33942.1			1	
FAM203A	0	LGGM	GRCh37	8	145193675	145193675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	9	3	.	.	ENST00000347708.4:c.752C>A	p.Pro251His	p.P251H	ENST00000347708	NM_016458.2	251	cCc/cAc	0	1	1	UPI0000073A95	0	NA	ENST00000347708		ENSG00000235173	24161	0.000186	12	3.155		HGNC	p.P251H	rs556816512	FAM203A		SNV							ENST00000347708	protein_coding	getma.org/?cm=var&var=hg19,8,145193675,C,A&fts=all	T:0	Gene3D:1.25.10.10,Pfam_domain:PF04063,hmmpanther:PTHR13387,Superfamily_domains:SSF48371		P/H		A	medium	819/2531		getma.org/?cm=msa&ty=f&p=F203A_HUMAN&rb=110&re=288&var=P251H	deleterious(0)	E9PPP0_HUMAN,B3KUY6_HUMAN	T:0	T:0.001	YES	FAM203A,missense_variant,p.Pro251His,ENST00000347708,NM_016458.2;FAM203A,non_coding_transcript_exon_variant,,ENST00000530074,;FAM203A,3_prime_UTR_variant,,ENST00000533266,;FAM203A,non_coding_transcript_exon_variant,,ENST00000534255,;FAM203A,non_coding_transcript_exon_variant,,ENST00000525101,;FAM203A,non_coding_transcript_exon_variant,,ENST00000530409,;TSSK5P1,downstream_gene_variant,,ENST00000423978,;		T:0.0002					MODERATE	752/1173	P251H	F203A_HUMAN		T:0	Transcript		probably_damaging(1)	.	ENSP00000321320	1.66E-05	CCDS6417.1		T:0	1	
TRAV20	0	LGGM	GRCh37	14	22509124	22509124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	29	3	.	.	ENST00000390448.3:c.62G>T	p.Gly21Val	p.G21V	ENST00000390448		21	gGa/gTa	0	1	1	UPI000011D123	0		ENST00000390448		ENSG00000211800	12117		32			HGNC	p.G21V		TRAV20		SNV							ENST00000390448	TR_V_gene			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19433:SF56,hmmpanther:PTHR19433		G/V		T		131/406			deleterious(0.01)				YES	TRAV20,missense_variant,p.Gly21Val,ENST00000390448,;							MODERATE	62/337					Transcript		possibly_damaging(0.687)	.	ENSP00000452067					1	
SLC8A2	0	LGGM	GRCh37	19	47969466	47969466	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	18	3	.	.	ENST00000236877.6:c.195G>T	p.Leu65=	p.L65=	ENST00000236877	NM_015063.2	65	ctG/ctT	0	1	1	UPI000012FC49	0		ENST00000236877		ENSG00000118160	11069		21			HGNC	p.L65L		SLC8A2		SNV							ENST00000236877	protein_coding			hmmpanther:PTHR11878,TIGRFAM_domain:TIGR00845		L		A		591/5234				M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN			YES	SLC8A2,synonymous_variant,p.=,ENST00000236877,NM_015063.2;SLC8A2,intron_variant,,ENST00000542837,;SLC8A2,intron_variant,,ENST00000539381,;SLC8A2,intron_variant,,ENST00000594353,;SLC8A2,intron_variant,,ENST00000597014,;							LOW	195/2766		NAC2_HUMAN			Transcript			.	ENSP00000236877		CCDS33065.1			1	
YOD1	0	LGGM	GRCh37	1	207224135	207224135	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	41	3	.	.	ENST00000315927.4:c.241G>T	p.Gly81Trp	p.G81W	ENST00000315927	NM_018566.3	81	Ggg/Tgg	0	1	1	UPI0000458A05	0	getma.org/pdb.php?prot=OTU1_HUMAN&from=1&to=154&var=G81W	ENST00000315927		ENSG00000180667	25035		44	2.195		HGNC	p.G37W		YOD1		SNV							ENST00000391927	protein_coding	getma.org/?cm=var&var=hg19,1,207224135,C,A&fts=all		Gene3D:3.10.20.90,hmmpanther:PTHR13312,hmmpanther:PTHR13312:SF0,Superfamily_domains:SSF54236		G/W		A	medium	288/6265		getma.org/?cm=msa&ty=f&p=OTU1_HUMAN&rb=1&re=154&var=G81W	deleterious(0)				YES	YOD1,missense_variant,p.Gly37Trp,ENST00000367084,NM_001276320.1;YOD1,missense_variant,p.Gly81Trp,ENST00000315927,NM_018566.3;YOD1,missense_variant,p.Gly37Trp,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,;							MODERATE	241/1047	G81W	OTU1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000326813		CCDS31002.1			1	
RIC8A	0	LGGM	GRCh37	11	209586	209586	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	38	3	.	.	ENST00000325207.5:c.312C>A	p.Ser104=	p.S104=	ENST00000325207	NM_021932.4	104	tcC/tcA	0	1		UPI000006DE38	0		ENST00000526104		ENSG00000177963	29550		41			HGNC	p.S104S		RIC8A		SNV							ENST00000526104	protein_coding			hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF4,Pfam_domain:PF10165,Superfamily_domains:SSF48371		S		A		1656/3703				E9PMP0_HUMAN				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.=,ENST00000530889,;RIC8A,synonymous_variant,p.=,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,;							LOW	312/1596		RIC8A_HUMAN			Transcript			.	ENSP00000432008		CCDS65982.1			1	
RPA1	0	LGGM	GRCh37	17	1792039	1792039	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	36	3	.	.	ENST00000254719.5:c.1445C>A	p.Pro482Gln	p.P482Q	ENST00000254719	NM_002945.3	482	cCg/cAg	0	1	1	UPI000013379A	0	getma.org/pdb.php?prot=RFA1_HUMAN&from=461&to=606&var=P482Q	ENST00000254719		ENSG00000132383	10289		39	3.095		HGNC	p.P482Q		RPA1		SNV							ENST00000254719	protein_coding	getma.org/?cm=var&var=hg19,17,1792039,C,A&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF08646,hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF0,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00617		P/Q		A	medium	1555/4340		getma.org/?cm=msa&ty=f&p=RFA1_HUMAN&rb=461&re=606&var=P482Q	deleterious(0)	I3L524_HUMAN,I3L2M5_HUMAN			YES	RPA1,missense_variant,p.Pro482Gln,ENST00000254719,NM_002945.3;RPA1,intron_variant,,ENST00000574049,;RPA1,upstream_gene_variant,,ENST00000573994,;							MODERATE	1445/1851	P482Q	RFA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000254719		CCDS11014.1			1	
ALPK3	0	LGGM	GRCh37	15	85383050	85383050	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	25	3	.	.	ENST00000258888.5:c.1146C>A	p.Arg382=	p.R382=	ENST00000258888	NM_020778.4	382	cgC/cgA	0	1	1	UPI000013D013	0		ENST00000258888		ENSG00000136383	17574		28			HGNC	p.R382R		ALPK3		SNV							ENST00000258888	protein_coding			hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21		R		A		1313/10917							YES	ALPK3,synonymous_variant,p.=,ENST00000258888,NM_020778.4;							LOW	1146/5724		ALPK3_HUMAN			Transcript			.	ENSP00000258888		CCDS10333.1			1	
FAM120B	0	LGGM	GRCh37	6	170632304	170632304	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	28	3	.	.	ENST00000476287.1:c.1872C>A	p.Pro624=	p.P624=	ENST00000476287	NM_032448.1	624	ccC/ccA	0	1	1	UPI000006DC13	0		ENST00000476287		ENSG00000112584	21109		31			HGNC	p.P636P		FAM120B		SNV							ENST00000540480	protein_coding			hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7		P		A		1980/5155				B4DL34_HUMAN			YES	FAM120B,synonymous_variant,p.=,ENST00000476287,NM_032448.1,NM_001286380.1,NM_001286379.1;FAM120B,synonymous_variant,p.=,ENST00000540480,;FAM120B,synonymous_variant,p.=,ENST00000537664,;FAM120B,intron_variant,,ENST00000252510,NM_001286381.1;							LOW	1872/2733		F120B_HUMAN			Transcript			.	ENSP00000417970		CCDS5314.1			1	
SLC13A2	0	LGGM	GRCh37	17	26817446	26817446	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	37	3	.	.	ENST00000444914.3:c.353C>A	p.Pro118Gln	p.P118Q	ENST00000444914	NM_001145975.1	118	cCg/cAg	0	1		UPI000013542C	0	NA	ENST00000314669		ENSG00000007216	10917		40	0		HGNC	p.P118Q		SLC13A2		SNV							ENST00000444914	protein_coding	getma.org/?cm=var&var=hg19,17,26817446,C,A&fts=all						A	neutral	-/2711		getma.org/?cm=msa&ty=f&p=B4DPL1_HUMAN&rb=1&re=570&var=P74Q						SLC13A2,missense_variant,p.Pro118Gln,ENST00000444914,NM_001145975.1;SLC13A2,intron_variant,,ENST00000314669,NM_003984.3;SLC13A2,intron_variant,,ENST00000537681,;SLC13A2,intron_variant,,ENST00000545060,;SLC13A2,intron_variant,,ENST00000459818,;SLC13A2,intron_variant,,ENST00000579281,;SLC13A2,intron_variant,,ENST00000577903,;RP11-192H23.4,intron_variant,,ENST00000481916,;SLC13A2,intron_variant,,ENST00000541739,;							MODIFIER	-/1779	P74Q	S13A2_HUMAN			Transcript			.	ENSP00000316202		CCDS11231.1			1	
CYP4F3	0	LGGM	GRCh37	19	15752389	15752389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	41	3	.	.	ENST00000221307.8:c.164C>A	p.Pro55Gln	p.P55Q	ENST00000221307	NM_000896.2	55	cCg/cAg	0	1	1	UPI0000052BE3	0	NA	ENST00000221307		ENSG00000186529	2646		44	3.145		HGNC	p.P55Q		CYP4F3		SNV							ENST00000591058	protein_coding	getma.org/?cm=var&var=hg19,19,15752389,C,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF46,Superfamily_domains:SSF48264		P/Q		A	medium	211/5050		getma.org/?cm=msa&ty=f&p=CP4F3_HUMAN&rb=52&re=515&var=P55Q	deleterious(0.02)	B7Z5A8_HUMAN			YES	CYP4F3,missense_variant,p.Pro55Gln,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Pro55Gln,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Pro55Gln,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Pro55Gln,ENST00000585846,;CYP4F3,missense_variant,p.Pro55Gln,ENST00000587360,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,upstream_gene_variant,,ENST00000609670,;							MODERATE	164/1563	P55Q	CP4F3_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000221307		CCDS12332.1			1	
NBEA	0	LGGM	GRCh37	13	35517131	35517131	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	33	3	.	.	ENST00000400445.3:c.174G>T	p.Ala58=	p.A58=	ENST00000400445	NM_015678.4	58	gcG/gcT	0	1	1	UPI00004FF92F	0		ENST00000400445		ENSG00000172915	7648		36			HGNC	p.A58A		NBEA		SNV							ENST00000379939	protein_coding			hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743		A		T		708/11119							YES	NBEA,synonymous_variant,p.=,ENST00000540320,;NBEA,synonymous_variant,p.=,ENST00000400445,NM_015678.4;NBEA,synonymous_variant,p.=,ENST00000310336,;NBEA,synonymous_variant,p.=,ENST00000379939,;							LOW	174/8841		NBEA_HUMAN			Transcript			.	ENSP00000383295		CCDS45026.1			1	
EHD2	0	LGGM	GRCh37	19	48220142	48220142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	26	3	.	.	ENST00000263277.3:c.273G>T	p.Glu91Asp	p.E91D	ENST00000263277	NM_014601.3	91	gaG/gaT	0	1	1	UPI0000071B66	0	getma.org/pdb.php?prot=EHD2_HUMAN&from=61&to=221&var=E91D	ENST00000263277		ENSG00000024422	3243		29	2.3		HGNC	p.E91D		EHD2		SNV							ENST00000263277	protein_coding	getma.org/?cm=var&var=hg19,19,48220142,G,T&fts=all		PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216,Gene3D:3.40.50.300,Pfam_domain:PF00350,Superfamily_domains:SSF52540		E/D		T	medium	524/3585		getma.org/?cm=msa&ty=f&p=EHD2_HUMAN&rb=61&re=221&var=E91D	deleterious(0)	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN			YES	EHD2,missense_variant,p.Glu91Asp,ENST00000263277,NM_014601.3;EHD2,intron_variant,,ENST00000538399,;CTD-2571L23.8,intron_variant,,ENST00000599924,;							MODERATE	273/1632	E91D	EHD2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000263277		CCDS12704.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121691980	121691980	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	20	3	.	.	ENST00000393386.2:c.6239C>A	p.Ala2080Asp	p.A2080D	ENST00000393386	NM_001206838.1	2080	gCc/gAc	0	1	1	UPI000020F9BB	0	getma.org/pdb.php?prot=PTPRZ_HUMAN&from=2048&to=2281&var=A2080D	ENST00000393386		ENSG00000106278	9685		23	4.4		HGNC	p.A1213D		PTPRZ1		SNV							ENST00000449182	protein_coding	getma.org/?cm=var&var=hg19,7,121691980,C,A&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		A/D		A	high	6650/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=2048&re=2281&var=A2080D	deleterious(0)				YES	PTPRZ1,missense_variant,p.Ala2080Asp,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Ala1213Asp,ENST00000449182,NM_001206839.1;							MODERATE	6239/6948	A2080D	PTPRZ_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000377047		CCDS34740.1			1	
MDN1	0	LGGM	GRCh37	6	90489982	90489982	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	25	3	.	.	ENST00000369393.3:c.1674C>A	p.Ala558=	p.A558=	ENST00000369393		558	gcC/gcA	0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		28			HGNC	p.A558A		MDN1		SNV							ENST00000428876	protein_coding			PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		A		T		1790/18413				M0QXR3_HUMAN			YES	MDN1,synonymous_variant,p.=,ENST00000369393,;MDN1,synonymous_variant,p.=,ENST00000428876,NM_014611.1;MDN1,synonymous_variant,p.=,ENST00000439638,;							LOW	1674/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
KLHL6	0	LGGM	GRCh37	3	183245633	183245633	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	22	3	.	.	ENST00000341319.3:c.459G>T	p.Gln153His	p.Q153H	ENST00000341319	NM_130446.2	153	caG/caT	0	1	1	UPI0000169CB9	0	getma.org/pdb.php?prot=KLHL6_HUMAN&from=62&to=169&var=Q153H	ENST00000341319		ENSG00000172578	18653		25	3.015		HGNC	p.Q153H		KLHL6		SNV							ENST00000341319	protein_coding	getma.org/?cm=var&var=hg19,3,183245633,C,A&fts=all		hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695		Q/H		A	medium	495/6298		getma.org/?cm=msa&ty=f&p=KLHL6_HUMAN&rb=62&re=169&var=Q153H	deleterious(0.04)				YES	KLHL6,missense_variant,p.Gln153His,ENST00000341319,NM_130446.2;KLHL6,splice_region_variant,,ENST00000487643,;KLHL6,missense_variant,p.Gln142His,ENST00000468734,;KLHL6,splice_region_variant,,ENST00000489245,;							MODERATE	459/1866	Q153H	KLHL6_HUMAN			Transcript		possibly_damaging(0.882)	.	ENSP00000341342		CCDS3245.2			1	
DNMT3L	0	LGGM	GRCh37	21	45674549	45674549	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	40	3	.	.	ENST00000270172.3:c.644C>A	p.Pro215Gln	p.P215Q	ENST00000270172	NM_013369.3	215	cCg/cAg	0	1	1	UPI00001294C2	0	getma.org/pdb.php?prot=DNM3L_HUMAN&from=201&to=386&var=P215Q	ENST00000270172		ENSG00000142182	2980		43	0.55		HGNC	p.P215Q		DNMT3L		SNV							ENST00000270172	protein_coding	getma.org/?cm=var&var=hg19,21,45674549,G,T&fts=all		hmmpanther:PTHR23068:SF5,hmmpanther:PTHR23068		P/Q		T	neutral	1128/1706		getma.org/?cm=msa&ty=f&p=DNM3L_HUMAN&rb=201&re=386&var=P215Q	tolerated(0.2)				YES	DNMT3L,missense_variant,p.Pro215Gln,ENST00000270172,NM_013369.3;DNMT3L,missense_variant,p.Pro215Gln,ENST00000418993,NM_175867.2;DNMT3L,missense_variant,p.Pro200Gln,ENST00000431166,;DNMT3L,upstream_gene_variant,,ENST00000436357,;AP001059.5,downstream_gene_variant,,ENST00000442785,;							MODERATE	644/1164	P215Q	DNM3L_HUMAN			Transcript		benign(0.013)	.	ENSP00000270172		CCDS13705.1			1	
KCNAB3	0	LGGM	GRCh37	17	7826819	7826819	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	11	3	.	.	ENST00000303790.2:c.1092G>T	p.Gly364=	p.G364=	ENST00000303790	NM_004732.3	364	ggG/ggT	0	1	1	UPI000013E8ED	0		ENST00000303790		ENSG00000170049	6230		14			HGNC	p.G364G		KCNAB3		SNV							ENST00000303790	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11732:SF137,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,TIGRFAM_domain:TIGR01293,Superfamily_domains:SSF51430,Prints_domain:PR01580		G		A		1092/2458							YES	KCNAB3,synonymous_variant,p.=,ENST00000303790,NM_004732.3;KCNAB3,3_prime_UTR_variant,,ENST00000570587,;KCNAB3,non_coding_transcript_exon_variant,,ENST00000572275,;KCNAB3,non_coding_transcript_exon_variant,,ENST00000576981,;KCNAB3,downstream_gene_variant,,ENST00000570852,;KCNAB3,downstream_gene_variant,,ENST00000574006,;RP11-1099M24.7,downstream_gene_variant,,ENST00000573621,;							LOW	1092/1215		KCAB3_HUMAN			Transcript			.	ENSP00000302719		CCDS11124.1			1	
MEI1	0	LGGM	GRCh37	22	42125742	42125742	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	35	3	.	.	ENST00000401548.3:c.938C>A	p.Pro313Gln	p.P313Q	ENST00000401548	NM_152513.3	313	cCa/cAa	0	1	1	UPI00006E232C	0	NA	ENST00000401548		ENSG00000167077	28613		38	1.845		HGNC	p.P53Q		MEI1		SNV							ENST00000540833	protein_coding	getma.org/?cm=var&var=hg19,22,42125742,C,A&fts=all		hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10,Superfamily_domains:SSF48371		P/Q		A	low	978/4020		getma.org/?cm=msa&ty=f&p=MEI1_HUMAN&rb=20&re=1271&var=P313Q	deleterious(0.04)				YES	MEI1,missense_variant,p.Pro313Gln,ENST00000401548,NM_152513.3;MEI1,missense_variant,p.Pro53Gln,ENST00000540833,;MEI1,5_prime_UTR_variant,,ENST00000400107,;MEI1,5_prime_UTR_variant,,ENST00000300398,;							MODERATE	938/3825	P313Q	MEI1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000384115		CCDS46718.1			1	
DMWD	0	LGGM	GRCh37	19	46294223	46294223	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	42	3	.	.	ENST00000270223.6:c.564G>T	p.Ala188=	p.A188=	ENST00000270223	NM_004943.1	188	gcG/gcT	0	1	1	UPI000040C0B4	0		ENST00000270223		ENSG00000185800	2936		45			HGNC	p.A188A	rs377687395	DMWD		SNV	A:0.0002			9.62E-05			ENST00000270223	protein_coding			Gene3D:2.130.10.10,hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF15,Superfamily_domains:SSF50978		A	A:0	A		610/3305							YES	DMWD,synonymous_variant,p.=,ENST00000270223,NM_004943.1;DMWD,synonymous_variant,p.=,ENST00000377735,;DMWD,synonymous_variant,p.=,ENST00000598237,;DMWD,synonymous_variant,p.=,ENST00000597053,;RSPH6A,downstream_gene_variant,,ENST00000221538,NM_030785.3;RSPH6A,downstream_gene_variant,,ENST00000597055,;RSPH6A,downstream_gene_variant,,ENST00000600188,;DMWD,non_coding_transcript_exon_variant,,ENST00000601370,;DMWD,upstream_gene_variant,,ENST00000602469,;AC011530.4,upstream_gene_variant,,ENST00000593999,;							LOW	564/2025		DMWD_HUMAN			Transcript			.	ENSP00000270223	8.24E-06	CCDS33054.1			1	
RNF10	0	LGGM	GRCh37	12	121001696	121001696	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	31	3	.	.	ENST00000325954.4:c.1615G>T	p.Glu539Ter	p.E539*	ENST00000325954	NM_014868.4	539	Gag/Tag	0	1	1	UPI000006D77E	0	NA	ENST00000325954		ENSG00000022840	10055		34	0		HGNC	p.E544X		RNF10		SNV							ENST00000413266	protein_coding	getma.org/?cm=var&var=hg19,12,121001696,G,T&fts=all		hmmpanther:PTHR12983		E/*		T	NA	2076/3825		NA		F5H3A4_HUMAN			YES	RNF10,stop_gained,p.Glu539Ter,ENST00000325954,NM_014868.4;RNF10,stop_gained,p.Glu544Ter,ENST00000413266,;RNF10,stop_gained,p.Glu83Ter,ENST00000540046,;RNF10,5_prime_UTR_variant,,ENST00000546262,;RNF10,upstream_gene_variant,,ENST00000538254,;RNF10,downstream_gene_variant,,ENST00000542438,;RNF10,downstream_gene_variant,,ENST00000542207,;RNF10,downstream_gene_variant,,ENST00000537740,;RNF10,upstream_gene_variant,,ENST00000535470,;RNF10,downstream_gene_variant,,ENST00000543675,;RNF10,upstream_gene_variant,,ENST00000543757,;RNF10,stop_gained,p.Glu75Ter,ENST00000545419,;RNF10,non_coding_transcript_exon_variant,,ENST00000544124,;RNF10,non_coding_transcript_exon_variant,,ENST00000535395,;RNF10,upstream_gene_variant,,ENST00000366112,;RNF10,downstream_gene_variant,,ENST00000537376,;							HIGH	1615/2436	E539*	RNF10_HUMAN			Transcript			.	ENSP00000322242		CCDS9201.1			1	
DIS3L2	0	LGGM	GRCh37	2	232894775	232894775	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	42	3	.	.	ENST00000325385.7:c.351C>A	p.Pro117=	p.P117=	ENST00000325385	NM_152383.4	117	ccC/ccA	0	1	1	UPI000004BF03	0		ENST00000325385		ENSG00000144535	28648		45			HGNC	p.P117P		DIS3L2		SNV			1				ENST00000441279	protein_coding			HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249		P		A		627/3501				H7C440_HUMAN,C9JGP4_HUMAN			YES	DIS3L2,synonymous_variant,p.=,ENST00000325385,NM_152383.4;DIS3L2,synonymous_variant,p.=,ENST00000273009,NM_001257281.1;DIS3L2,synonymous_variant,p.=,ENST00000409307,;DIS3L2,synonymous_variant,p.=,ENST00000409401,NM_001257282.1;DIS3L2,synonymous_variant,p.=,ENST00000360410,;DIS3L2,synonymous_variant,p.=,ENST00000441279,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000470087,;DIS3L2,synonymous_variant,p.=,ENST00000433430,;DIS3L2,synonymous_variant,p.=,ENST00000390005,;DIS3L2,synonymous_variant,p.=,ENST00000445090,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000464554,;							LOW	351/2658		DI3L2_HUMAN			Transcript			.	ENSP00000315569		CCDS42834.1			1	
FAM134A	0	LGGM	GRCh37	2	220044833	220044833	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	37	3	.	.	ENST00000430297.2:c.421G>T	p.Glu141Ter	p.E141*	ENST00000430297	NM_024293.4	141	Gag/Tag	0	1	1	UPI000013D996	0	NA	ENST00000430297		ENSG00000144567	28450		40	0		HGNC	p.E141X	COSM1405575	FAM134A		SNV						1	ENST00000430297	protein_coding	getma.org/?cm=var&var=hg19,2,220044833,G,T&fts=all		Pfam_domain:PF02453		E/*		T	NA	557/4618		NA		C9JIF3_HUMAN,C9J3K5_HUMAN			YES	FAM134A,stop_gained,p.Glu141Ter,ENST00000430297,NM_024293.4;FAM134A,splice_region_variant,,ENST00000458520,;FAM134A,splice_region_variant,,ENST00000430747,;FAM134A,splice_region_variant,,ENST00000443757,;FAM134A,intron_variant,,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,splice_region_variant,,ENST00000452293,;FAM134A,non_coding_transcript_exon_variant,,ENST00000465672,;FAM134A,intron_variant,,ENST00000273048,;FAM134A,upstream_gene_variant,,ENST00000481925,;					1		HIGH	421/1632	E141*	F134A_HUMAN			Transcript			.	ENSP00000395249		CCDS2434.1			1	
KIF5A	0	LGGM	GRCh37	12	57965988	57965988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	12	3	.	.	ENST00000455537.2:c.1507C>A	p.Gln503Lys	p.Q503K	ENST00000455537	NM_004984.2	503	Cag/Aag	0	1	1	UPI000013DE4C	0	NA	ENST00000455537		ENSG00000155980	6323		15	2.015		HGNC	p.Q414K		KIF5A		SNV			1				ENST00000286452	protein_coding	getma.org/?cm=var&var=hg19,12,57965988,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317		Q/K		A	medium	1781/5824		getma.org/?cm=msa&ty=f&p=KIF5A_HUMAN&rb=391&re=539&var=Q503K	tolerated(0.08)				YES	KIF5A,missense_variant,p.Gln503Lys,ENST00000455537,NM_004984.2;KIF5A,missense_variant,p.Gln414Lys,ENST00000286452,;							MODERATE	1507/3099	Q503K	KIF5A_HUMAN			Transcript		benign(0.084)	.	ENSP00000408979		CCDS8945.1			1	
FCGBP	0	LGGM	GRCh37	19	40421140	40421140	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	13	3	.	.	ENST00000221347.6:c.2781C>A	p.Ala927=	p.A927=	ENST00000221347	NM_003890.2	927	gcC/gcA	0	1	1	UPI00001B0455	0		ENST00000221347		ENSG00000090920	13572		16			HGNC	p.A927A		FCGBP		SNV							ENST00000221347	protein_coding			PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216		A		T		2789/16390							YES	FCGBP,synonymous_variant,p.=,ENST00000221347,NM_003890.2;							LOW	2781/16218		FCGBP_HUMAN			Transcript			.	ENSP00000221347		CCDS12546.1			1	
MDN1	0	LGGM	GRCh37	6	90420451	90420451	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	27	3	.	.	ENST00000369393.3:c.7714C>A	p.Leu2572Ile	p.L2572I	ENST00000369393		2572	Ctc/Atc	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		30	0.46		HGNC	p.L2572I		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90420451,G,T&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		L/I		T	neutral	7830/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=2473&re=2672&var=L2572I		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Leu2572Ile,ENST00000369393,;MDN1,missense_variant,p.Leu2572Ile,ENST00000428876,NM_014611.1;							MODERATE	7714/16791	L2572I	MDN1_HUMAN			Transcript		benign(0.149)	.	ENSP00000358400		CCDS5024.1			1	
UGT2A1	0	LGGM	GRCh37	4	70513321	70513321	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	32	3	.	.	ENST00000503640.1:c.42C>A	p.Leu14=	p.L14=	ENST00000503640	NM_006798.3	14	ctC/ctA	0	1	1	UPI000013DE58	0		ENST00000503640		ENSG00000173610	12542		35			HGNC	p.L14L		UGT2A1		SNV							ENST00000512704	protein_coding			hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116,Cleavage_site_(Signalp):SignalP-noTM		L		T		98/2595				D6RHF3_HUMAN			YES	UGT2A1,synonymous_variant,p.=,ENST00000503640,NM_006798.3;UGT2A1,synonymous_variant,p.=,ENST00000512704,;UGT2A1,synonymous_variant,p.=,ENST00000514019,NM_001252274.1;UGT2A1,synonymous_variant,p.=,ENST00000286604,NM_001252275.1;UGT2A1,synonymous_variant,p.=,ENST00000505512,;							LOW	42/1584		UD2A1_HUMAN			Transcript			.	ENSP00000424478		CCDS3529.1			1	
SBF1	0	LGGM	GRCh37	22	50906031	50906031	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	14	3	.	.	ENST00000380817.3:c.368C>A	p.Pro123Gln	p.P123Q	ENST00000380817	NM_002972.2	123	cCa/cAa	0	1	1	UPI00001D69ED	0	NA	ENST00000380817		ENSG00000100241	10542		17	0		HGNC	p.P123Q		SBF1		SNV			1				ENST00000380817	protein_coding	getma.org/?cm=var&var=hg19,22,50906031,G,T&fts=all		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43		P/Q		T	neutral	552/8008		getma.org/?cm=msa&ty=f&p=MTMR5_HUMAN&rb=87&re=127&var=P123Q	tolerated(0.64)	Q86TK5_HUMAN			YES	SBF1,missense_variant,p.Pro123Gln,ENST00000380817,NM_002972.2;SBF1,missense_variant,p.Pro124Gln,ENST00000348911,;SBF1,missense_variant,p.Pro123Gln,ENST00000390679,;SBF1,non_coding_transcript_exon_variant,,ENST00000399627,;SBF1,upstream_gene_variant,,ENST00000477234,;							MODERATE	368/5682	P123Q	MTMR5_HUMAN			Transcript		benign(0.001)	.	ENSP00000370196		CCDS14091.2			1	
UBASH3B	0	LGGM	GRCh37	11	122650278	122650278	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	43	3	.	.	ENST00000284273.5:c.476C>A	p.Ser159Ter	p.S159*	ENST00000284273	NM_032873.4	159	tCg/tAg	0	1	1	UPI0000047471	0	NA	ENST00000284273		ENSG00000154127	29884		46	0		HGNC	p.S159X		UBASH3B		SNV							ENST00000284273	protein_coding	getma.org/?cm=var&var=hg19,11,122650278,C,A&fts=all		Gene3D:3.90.1140.10,hmmpanther:PTHR16469,hmmpanther:PTHR16469:SF24		S/*		A	NA	851/6912		NA					YES	UBASH3B,stop_gained,p.Ser159Ter,ENST00000284273,NM_032873.4;UBASH3B,non_coding_transcript_exon_variant,,ENST00000526386,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000533451,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000530917,;UBASH3B,non_coding_transcript_exon_variant,,ENST00000529998,;UBASH3B,upstream_gene_variant,,ENST00000526493,;							HIGH	476/1950	S159*	UBS3B_HUMAN			Transcript			.	ENSP00000284273		CCDS31694.1			1	
UMODL1	0	LGGM	GRCh37	21	43531594	43531594	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	27	3	.	.	ENST00000408989.2:c.2262C>A	p.Gly754=	p.G754=	ENST00000408989	NM_173568.3	754	ggC/ggA	0	1		UPI00006C2192	0		ENST00000408910		ENSG00000177398	12560		30			HGNC	p.G682G		UMODL1		SNV							ENST00000400427	protein_coding							A		-/4878				Q6L9N9_HUMAN				UMODL1,synonymous_variant,p.=,ENST00000400427,NM_001199527.1;UMODL1,synonymous_variant,p.=,ENST00000408989,NM_173568.3;UMODL1,intron_variant,,ENST00000400424,NM_001199528.2;UMODL1,intron_variant,,ENST00000408910,NM_001004416.2;C21orf128,upstream_gene_variant,,ENST00000329015,;UMODL1,non_coding_transcript_exon_variant,,ENST00000475047,;							MODIFIER	-/3957		UROL1_HUMAN			Transcript			.	ENSP00000386147		CCDS42936.1			1	
SDK2	0	LGGM	GRCh37	17	71383980	71383980	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	16	3	.	.	ENST00000392650.3:c.4389G>T	p.Val1463=	p.V1463=	ENST00000392650	NM_001144952.1	1463	gtG/gtT	0	1	1	UPI0000E5A088	0		ENST00000392650		ENSG00000069188	19308		19			HGNC	p.V1463V		SDK2		SNV							ENST00000388726	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		V		A		4390/10723							YES	SDK2,synonymous_variant,p.=,ENST00000392650,NM_001144952.1;SDK2,synonymous_variant,p.=,ENST00000388726,;SDK2,synonymous_variant,p.=,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;							LOW	4389/6519		SDK2_HUMAN			Transcript			.	ENSP00000376421		CCDS45769.1			1	
ABCC6	0	LGGM	GRCh37	16	16295975	16295975	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	31	3	.	.	ENST00000205557.7:c.1059C>A	p.Ala353=	p.A353=	ENST00000205557	NM_001171.5	353	gcC/gcA	0	1	1	UPI00001AE5CA	0		ENST00000205557		ENSG00000091262	57		34			HGNC	p.A353A		ABCC6		SNV			1				ENST00000456970	protein_coding			Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR00957,Transmembrane_helices:TMhelix		A		T		1089/5747							YES	ABCC6,synonymous_variant,p.=,ENST00000205557,NM_001171.5;ABCC6,non_coding_transcript_exon_variant,,ENST00000574094,;ABCC6,synonymous_variant,p.=,ENST00000456970,;ABCC6,3_prime_UTR_variant,,ENST00000577103,;							LOW	1059/4512		MRP6_HUMAN			Transcript			.	ENSP00000205557		CCDS10568.1			1	
FBN2	0	LGGM	GRCh37	5	127673704	127673704	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	3	.	.	ENST00000508053.1:c.3583C>A	p.Arg1195Ser	p.R1195S	ENST00000508053		1195	Cgt/Agt	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=1158&to=1198&var=R1195S	ENST00000262464		ENSG00000138829	3604		22	0.525		HGNC	p.R1195S		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127673704,G,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		R/S		T	neutral	4022/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=1158&re=1198&var=R1195S	tolerated(0.13)					FBN2,missense_variant,p.Arg1195Ser,ENST00000508053,;FBN2,missense_variant,p.Arg1195Ser,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Arg1162Ser,ENST00000508989,;FBN2,missense_variant,p.Arg45Ser,ENST00000507835,;							MODERATE	3583/8739	R1195S	FBN2_HUMAN			Transcript		benign(0.174)	.	ENSP00000262464		CCDS34222.1			1	
MMS22L	0	LGGM	GRCh37	6	97634450	97634450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	31	3	.	.	ENST00000275053.4:c.2156G>T	p.Arg719Ile	p.R719I	ENST00000275053	NM_198468.2	719	aGa/aTa	0	1	1	UPI00003673C9	0	NA	ENST00000275053		ENSG00000146263	21475		34	1.355		HGNC	p.R719I		MMS22L		SNV							ENST00000275053	protein_coding	getma.org/?cm=var&var=hg19,6,97634450,C,A&fts=all		Pfam_domain:PF14910		R/I		A	low	2422/8643		getma.org/?cm=msa&ty=f&p=MMS22_HUMAN&rb=77&re=1238&var=R719I	deleterious(0.02)	H9KVD8_HUMAN			YES	MMS22L,missense_variant,p.Arg719Ile,ENST00000275053,NM_198468.2;MMS22L,missense_variant,p.Arg679Ile,ENST00000369251,;							MODERATE	2156/3732	R719I	MMS22_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000275053		CCDS5039.1			1	
COPG1	0	LGGM	GRCh37	3	128982803	128982803	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	30	3	.	.	ENST00000314797.6:c.1185C>A	p.Ala395=	p.A395=	ENST00000314797	NM_016128.3	395	gcC/gcA	0	1	1	UPI000000095F	0		ENST00000314797		ENSG00000181789	2236		33			HGNC	p.A395A		COPG1		SNV							ENST00000314797	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3,Superfamily_domains:SSF48371		A		A		1289/3076				Q8WUI6_HUMAN			YES	COPG1,synonymous_variant,p.=,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,;							LOW	1185/2625		COPG1_HUMAN			Transcript			.	ENSP00000325002		CCDS33851.1			1	
MADD	0	LGGM	GRCh37	11	47296403	47296403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	24	3	.	.	ENST00000311027.5:c.352G>T	p.Gly118Trp	p.G118W	ENST00000311027	NM_003682.3	118	Ggg/Tgg	0	1	1	UPI000013E874	0	NA	ENST00000311027		ENSG00000110514	6766		27	0.695		HGNC	p.G118W		MADD		SNV							ENST00000395344	protein_coding	getma.org/?cm=var&var=hg19,11,47296403,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008		G/W		T	neutral	517/5990		getma.org/?cm=msa&ty=f&p=MADD_HUMAN&rb=99&re=171&var=G118W	deleterious(0.05)	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN			YES	MADD,missense_variant,p.Gly118Trp,ENST00000342922,NM_130470.2;MADD,missense_variant,p.Gly118Trp,ENST00000311027,NM_003682.3;MADD,missense_variant,p.Gly118Trp,ENST00000395336,NM_130475.2;MADD,missense_variant,p.Gly118Trp,ENST00000349238,NM_130473.2;MADD,missense_variant,p.Gly118Trp,ENST00000402192,NM_001135943.1,NM_130476.2;MADD,missense_variant,p.Gly118Trp,ENST00000407859,NM_130471.2;MADD,missense_variant,p.Gly118Trp,ENST00000402799,NM_001135944.1,NM_130472.2;MADD,missense_variant,p.Gly118Trp,ENST00000406482,NM_130474.2;MADD,missense_variant,p.Gly118Trp,ENST00000395344,;MADD,missense_variant,p.Gly118Trp,ENST00000444117,;MADD,missense_variant,p.Gly118Trp,ENST00000422579,;MADD,intron_variant,,ENST00000428807,;MADD,downstream_gene_variant,,ENST00000453571,;RP11-17G12.3,upstream_gene_variant,,ENST00000545474,;RP11-17G12.3,upstream_gene_variant,,ENST00000543925,;MADD,non_coding_transcript_exon_variant,,ENST00000526603,;MADD,non_coding_transcript_exon_variant,,ENST00000534808,;MADD,upstream_gene_variant,,ENST00000489415,;							MODERATE	352/4944	G118W	MADD_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000310933		CCDS7930.1			1	
ILDR1	0	LGGM	GRCh37	3	121713043	121713043	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	21	3	.	.	ENST00000344209.5:c.764C>A	p.Pro255Gln	p.P255Q	ENST00000344209	NM_001199799.1	255	cCg/cAg	0	1	1	UPI00003FF1E2	0	NA	ENST00000344209		ENSG00000145103	28741		24	2.215		HGNC	p.P166Q		ILDR1		SNV			1				ENST00000393631	protein_coding	getma.org/?cm=var&var=hg19,3,121713043,G,T&fts=all		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3		P/Q		T	medium	891/2226		getma.org/?cm=msa&ty=f&p=ILDR1_HUMAN&rb=216&re=415&var=P255Q	deleterious(0.01)				YES	ILDR1,missense_variant,p.Pro255Gln,ENST00000344209,NM_001199799.1;ILDR1,missense_variant,p.Pro166Gln,ENST00000393631,NM_001199800.1;ILDR1,intron_variant,,ENST00000273691,NM_175924.3;ILDR1,intron_variant,,ENST00000462014,;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;							MODERATE	764/1641	P255Q	ILDR1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345667		CCDS56271.1			1	
EPHA4	0	LGGM	GRCh37	2	222321461	222321461	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	25	3	.	.	ENST00000281821.2:c.1475G>T	p.Arg492Leu	p.R492L	ENST00000281821	NM_004438.3	492	cGg/cTg	0	1	1	UPI000012A077	0	getma.org/pdb.php?prot=EPHA4_HUMAN&from=442&to=525&var=R492L	ENST00000281821		ENSG00000116106	3388		28	1.56		HGNC	p.R441L		EPHA4		SNV							ENST00000392071	protein_coding	getma.org/?cm=var&var=hg19,2,222321461,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF25,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/L		A	low	1517/6346		getma.org/?cm=msa&ty=f&p=EPHA4_HUMAN&rb=442&re=525&var=R492L	deleterious(0.02)	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN			YES	EPHA4,missense_variant,p.Arg492Leu,ENST00000281821,NM_004438.3;EPHA4,missense_variant,p.Arg492Leu,ENST00000409854,;EPHA4,missense_variant,p.Arg492Leu,ENST00000409938,;EPHA4,missense_variant,p.Arg441Leu,ENST00000392071,;EPHA4,downstream_gene_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000441679,;							MODERATE	1475/2961	R492L	EPHA4_HUMAN			Transcript		benign(0.046)	.	ENSP00000281821		CCDS2447.1			1	
ERBB2IP	0	LGGM	GRCh37	5	65350484	65350484	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	44	3	.	.	ENST00000506030.1:c.3338C>A	p.Ala1113Glu	p.A1113E	ENST00000506030		1113	gCg/gAg	0	1		UPI000013C941	0	NA	ENST00000284037		ENSG00000112851	15842		47	0.345		HGNC	p.A1113E		ERBB2IP		SNV							ENST00000506030	protein_coding	getma.org/?cm=var&var=hg19,5,65350484,C,A&fts=all				A/E		A	neutral	3727/8647		getma.org/?cm=msa&ty=f&p=LAP2_HUMAN&rb=503&re=1191&var=A1113E	tolerated(0.06)					ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000284037,NM_001253697.1;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000380939,;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000380936,;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000380935,NM_001006600.2;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000380943,NM_001253699.1,NM_001253701.1,NM_018695.3;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000380938,NM_001253698.1;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000506030,;ERBB2IP,missense_variant,p.Ala1113Glu,ENST00000508515,;ERBB2IP,missense_variant,p.Ala1109Glu,ENST00000511297,;ERBB2IP,missense_variant,p.Ala9Glu,ENST00000511671,;ERBB2IP,intron_variant,,ENST00000416865,;ERBB2IP,upstream_gene_variant,,ENST00000503913,;							MODERATE	3338/4239	A1113E	LAP2_HUMAN			Transcript		benign(0.132)	.	ENSP00000284037		CCDS58953.1			1	
DCHS2	0	LGGM	GRCh37	4	155226016	155226016	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	3	.	.	ENST00000357232.4:c.4045G>T	p.Gly1349Trp	p.G1349W	ENST00000357232	NM_017639.3	1349	Ggg/Tgg	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=1274&to=1365&var=G1349W	ENST00000357232		ENSG00000197410	23111		22	2.795		HGNC	p.G1349W	rs754988654	DCHS2	7.73E-05	SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155226016,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/W		A	medium	4045/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1274&re=1365&var=G1349W	deleterious(0)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Gly1349Trp,ENST00000357232,NM_017639.3;							MODERATE	4045/8751	G1349W	PCD23_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000349768	1.65E-05	CCDS3785.1			1	
EPO	0	LGGM	GRCh37	7	100319587	100319587	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	38	3	.	.	ENST00000252723.2:c.162G>T	p.Thr54=	p.T54=	ENST00000252723	NM_000799.2	54	acG/acT	0	1	1	UPI0000033477	0		ENST00000252723		ENSG00000130427	3415		41			HGNC	p.T54T		EPO		SNV			1				ENST00000252723	protein_coding			hmmpanther:PTHR10370,PROSITE_patterns:PS00817,Pfam_domain:PF00758,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF001951,Superfamily_domains:SSF47266,Prints_domain:PR00272		T		T		343/1330				U3MHQ9_HUMAN,G9JKG7_HUMAN,B7ZKK5_HUMAN			YES	EPO,splice_region_variant,p.=,ENST00000252723,NM_000799.2;							LOW	162/582		EPO_HUMAN			Transcript			.	ENSP00000252723		CCDS5705.1			1	
ZNF628	0	LGGM	GRCh37	19	55994181	55994181	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	29	3	.	.	ENST00000598519.1:c.1621G>T	p.Gly541Trp	p.G541W	ENST00000598519	NM_033113.2	541	Ggg/Tgg	0	1	1	UPI00026B9C6E	0	getma.org/pdb.php?prot=ZN628_HUMAN&from=520&to=545&var=G537W	ENST00000598519		ENSG00000197483	28054		32	1.6		HGNC	p.G541W		ZNF628		SNV							ENST00000598519	protein_coding	getma.org/?cm=var&var=hg19,19,55994181,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF237,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	low	2174/3847		getma.org/?cm=msa&ty=f&p=ZN628_HUMAN&rb=500&re=565&var=G537W	deleterious(0.01)	K7EL41_HUMAN			YES	ZNF628,missense_variant,p.Gly537Trp,ENST00000391718,;ZNF628,missense_variant,p.Gly541Trp,ENST00000598519,NM_033113.2;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000592719,;							MODERATE	1621/3180	G537W	ZN628_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000469591		CCDS33116.3			1	
AMER1	0	LGGM	GRCh37	X	63410690	63410690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	3	.	.	ENST00000330258.3:c.2477C>A	p.Pro826His	p.P826H	ENST00000330258	NM_152424.3	826	cCt/cAt	0	1	1	UPI0000EDA0FC	0	NA	ENST00000330258		ENSG00000184675	26837		22	0		HGNC	p.P826H		AMER1		SNV			1				ENST00000330258	protein_coding	getma.org/?cm=var&var=hg19,X,63410690,G,T&fts=all		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0		P/H		T	neutral	2750/8443		getma.org/?cm=msa&ty=f&p=AMER1_HUMAN&rb=705&re=904&var=P826H	deleterious(0.02)				YES	AMER1,missense_variant,p.Pro826His,ENST00000330258,NM_152424.3;AMER1,intron_variant,,ENST00000374869,;AMER1,intron_variant,,ENST00000403336,;							MODERATE	2477/3408	P826H	AMER1_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000329117		CCDS14377.2			1	
CTD-2127H9.1	0	LGGM	GRCh37	5	38820737	38820737	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	38	3	.	.	ENST00000513480.1:n.102-24166G>T		*34*	ENST00000513480				0	1	1		0		ENST00000513480		ENSG00000249740			41			Clone_based_vega_gene	p.D224Y		CTD-2127H9.1		SNV							ENST00000381778	lincRNA							A		-/583								CTD-2127H9.1,intron_variant,,ENST00000513480,;							MODIFIER						Transcript			.						1	
TMEM151B	0	LGGM	GRCh37	6	44240912	44240912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	25	3	.	.	ENST00000451188.2:c.245G>T	p.Cys82Phe	p.C82F	ENST00000451188	NM_001137560.1	82	tGc/tTc	0	1	1	UPI00006C0A4E	0	NA	ENST00000451188		ENSG00000178233	21315		28	2.62		HGNC	p.C82F		TMEM151B		SNV							ENST00000451188	protein_coding	getma.org/?cm=var&var=hg19,6,44240912,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF4,Pfam_domain:PF14857		C/F		T	medium	522/4895		getma.org/?cm=msa&ty=f&p=T151B_HUMAN&rb=1&re=564&var=C82F	deleterious(0)				YES	TMEM151B,missense_variant,p.Cys82Phe,ENST00000451188,NM_001137560.1;TMEM151B,missense_variant,p.Cys82Phe,ENST00000438774,;RP11-444E17.6,upstream_gene_variant,,ENST00000505802,;							MODERATE	245/1701	C82F	T151B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000393161		CCDS47437.1			1	
GREB1	0	LGGM	GRCh37	2	11706620	11706620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	41	3	.	.	ENST00000381486.2:c.292G>T	p.Gly98Trp	p.G98W	ENST00000381486	NM_014668.3	98	Ggg/Tgg	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		44	2.25		HGNC	p.G98W		GREB1		SNV							ENST00000263834	protein_coding	getma.org/?cm=var&var=hg19,2,11706620,G,T&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		G/W		T	medium	554/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=G98W	deleterious(0)					GREB1,missense_variant,p.Gly98Trp,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Gly98Trp,ENST00000234142,;GREB1,missense_variant,p.Gly98Trp,ENST00000263834,NM_148903.2;GREB1,missense_variant,p.Gly98Trp,ENST00000381483,NM_033090.2;GREB1,5_prime_UTR_variant,,ENST00000389825,;RNA5SP85,upstream_gene_variant,,ENST00000365378,;GREB1,downstream_gene_variant,,ENST00000470980,;							MODERATE	292/5850	G98W	GREB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000234142		CCDS42655.1			1	
FAM185A	0	LGGM	GRCh37	7	102389826	102389826	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	3	3	.	.	ENST00000413034.2:c.172G>A	p.Gly58Ser	p.G58S	ENST00000413034	NM_001145268.1	58	Ggc/Agc	0	1	1	UPI0001AE70BB	0	NA	ENST00000413034		ENSG00000222011	22412		6	1.67		HGNC	p.G58S		FAM185A		SNV							ENST00000420217	protein_coding	getma.org/?cm=var&var=hg19,7,102389826,G,A&fts=all				G/S		A	low	172/1179		getma.org/?cm=msa&ty=f&p=F185A_HUMAN&rb=1&re=200&var=G58S	tolerated(0.09)	F8WFC0_HUMAN,C9JFL0_HUMAN			YES	FAM185A,missense_variant,p.Gly58Ser,ENST00000409231,NM_001145269.1;FAM185A,missense_variant,p.Gly58Ser,ENST00000413034,NM_001145268.1;FAM185A,missense_variant,p.Gly58Ser,ENST00000418198,;FAM185A,non_coding_transcript_exon_variant,,ENST00000481697,;FAM185A,intron_variant,,ENST00000487807,;FAM185A,upstream_gene_variant,,ENST00000496790,;FAM185A,missense_variant,p.Gly58Ser,ENST00000442873,;FAM185A,missense_variant,p.Gly58Ser,ENST00000420217,;							MODERATE	172/1179	G58S	F185A_HUMAN			Transcript		benign(0.424)	.	ENSP00000395340		CCDS47676.1			1	
VIL1	0	LGGM	GRCh37	2	219294161	219294161	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	10	3	.	.	ENST00000248444.5:c.721C>T	p.Pro241Ser	p.P241S	ENST00000248444	NM_007127.2	241	Ccc/Tcc	0	1	1	UPI000013CC45	0	NA	ENST00000248444		ENSG00000127831	12690		13	1.31		HGNC	p.P241S		VIL1		SNV							ENST00000440053	protein_coding	getma.org/?cm=var&var=hg19,2,219294161,C,T&fts=all		hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35		P/S		T	low	809/6531		getma.org/?cm=msa&ty=f&p=VILI_HUMAN&rb=221&re=265&var=P241S	tolerated(0.13)	Q53S11_HUMAN,B4DV78_HUMAN			YES	VIL1,missense_variant,p.Pro241Ser,ENST00000248444,NM_007127.2;VIL1,missense_variant,p.Pro241Ser,ENST00000440053,;VIL1,intron_variant,,ENST00000392114,;VIL1,upstream_gene_variant,,ENST00000419986,;VIL1,downstream_gene_variant,,ENST00000454069,;							MODERATE	721/2484	P241S	VILI_HUMAN			Transcript		benign(0.076)	.	ENSP00000248444		CCDS2417.1			1	
STIL	0	LGGM	GRCh37	1	47717557	47717557	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	40	3	.	.	ENST00000371877.3:c.3118G>T	p.Gly1040Ter	p.G1040*	ENST00000371877		1040	Gga/Tga	0	1		UPI0000470133	0	NA	ENST00000360380		ENSG00000123473	10879		43	0		HGNC	p.G1039X		STIL		SNV			1				ENST00000337817	protein_coding	getma.org/?cm=var&var=hg19,1,47717557,C,A&fts=all		hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128		G/*		A	NA	3479/5225		NA		Q5T0D0_HUMAN				STIL,stop_gained,p.Gly1039Ter,ENST00000360380,NM_001282936.1;STIL,stop_gained,p.Gly1039Ter,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,stop_gained,p.Gly1040Ter,ENST00000371877,;STIL,stop_gained,p.Gly1039Ter,ENST00000243182,;STIL,stop_gained,p.Gly1022Ter,ENST00000396221,NM_001282937.1;							HIGH	3115/3864	G1039*	STIL_HUMAN			Transcript			.	ENSP00000353544		CCDS548.1			1	
PAPPA	0	LGGM	GRCh37	9	119093599	119093599	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	27	3	.	.	ENST00000328252.3:c.3224C>A	p.Pro1075Gln	p.P1075Q	ENST00000328252	NM_002581.3	1075	cCa/cAa	0	1	1	UPI00001E0589	0	NA	ENST00000328252		ENSG00000182752	8602		30	-1.1		HGNC	p.P113Q		PAPPA		SNV							ENST00000534838	protein_coding	getma.org/?cm=var&var=hg19,9,119093599,C,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347		P/Q		A	neutral	3593/10959		getma.org/?cm=msa&ty=f&p=PAPP1_HUMAN&rb=1061&re=1260&var=P1075Q	tolerated(0.54)	Q5QFB7_HUMAN,F5GZ19_HUMAN			YES	PAPPA,missense_variant,p.Pro1075Gln,ENST00000328252,NM_002581.3;PAPPA,missense_variant,p.Pro113Gln,ENST00000534838,;PAPPA,upstream_gene_variant,,ENST00000460463,;							MODERATE	3224/4884	P1075Q	PAPP1_HUMAN			Transcript		benign(0.029)	.	ENSP00000330658		CCDS6813.1			1	
CLN6	0	LGGM	GRCh37	15	68504022	68504022	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	38	3	.	.	ENST00000249806.5:c.477G>T	p.Pro159=	p.P159=	ENST00000249806	NM_017882.2	159	ccG/ccT	0	1	1	UPI000006D91F	0		ENST00000249806		ENSG00000128973	2077		41			HGNC	p.P191P		CLN6		SNV			1				ENST00000538696	protein_coding			hmmpanther:PTHR16244,Pfam_domain:PF15156		P		A		635/2242							YES	CLN6,synonymous_variant,p.=,ENST00000249806,NM_017882.2;CLN6,synonymous_variant,p.=,ENST00000538696,;CLN6,synonymous_variant,p.=,ENST00000564752,;CLN6,intron_variant,,ENST00000565471,;CLN6,intron_variant,,ENST00000566347,;CLN6,intron_variant,,ENST00000418702,;RP11-315D16.2,intron_variant,,ENST00000562767,;CLN6,non_coding_transcript_exon_variant,,ENST00000563917,;CLN6,intron_variant,,ENST00000567060,;CLN6,downstream_gene_variant,,ENST00000564846,;							LOW	477/936		CLN6_HUMAN			Transcript			.	ENSP00000249806		CCDS10227.1			1	
GPNMB	0	LGGM	GRCh37	7	23309786	23309786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	28	3	.	.	ENST00000381990.2:c.1457C>A	p.Pro486His	p.P486H	ENST00000381990	NM_002510.2	486	cCt/cAt	0	1	1	UPI000007158E	0	NA	ENST00000381990		ENSG00000136235	4462		31	2.395		HGNC	p.P474H		GPNMB		SNV							ENST00000258733	protein_coding	getma.org/?cm=var&var=hg19,7,23309786,C,A&fts=all		hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF11		P/H		A	medium	1618/2763		getma.org/?cm=msa&ty=f&p=GPNMB_HUMAN&rb=322&re=521&var=P486H	deleterious(0.01)				YES	GPNMB,missense_variant,p.Pro474His,ENST00000258733,;GPNMB,missense_variant,p.Pro486His,ENST00000381990,NM_002510.2,NM_001005340.1;GPNMB,missense_variant,p.Pro428His,ENST00000453162,;GPNMB,missense_variant,p.Pro375His,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,;							MODERATE	1457/1719	P486H	GPNMB_HUMAN			Transcript		possibly_damaging(0.608)	.	ENSP00000371420		CCDS34610.1			1	
RBM6	0	LGGM	GRCh37	3	50103691	50103691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	24	3	.	.	ENST00000266022.4:c.2699C>A	p.Pro900Gln	p.P900Q	ENST00000266022	NM_005777.2	900	cCa/cAa	0	1	1	UPI000013D6C0	0	NA	ENST00000266022		ENSG00000004534	9903		27	1.87		HGNC	p.P900Q	rs770703037	RBM6		SNV				9.83E-05			ENST00000266022	protein_coding	getma.org/?cm=var&var=hg19,3,50103691,C,A&fts=all		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF22,Low_complexity_(Seg):seg		P/Q		A	low	2958/3748		getma.org/?cm=msa&ty=f&p=RBM6_HUMAN&rb=735&re=934&var=P900Q	deleterious(0.02)	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN			YES	RBM6,missense_variant,p.Pro768Gln,ENST00000443081,;RBM6,missense_variant,p.Pro900Gln,ENST00000266022,NM_005777.2;RBM6,missense_variant,p.Pro378Gln,ENST00000422955,;RBM6,missense_variant,p.Pro378Gln,ENST00000442092,NM_001167582.1;RBM6,missense_variant,p.Pro242Gln,ENST00000539992,;RBM6,upstream_gene_variant,,ENST00000421682,;RBM6,downstream_gene_variant,,ENST00000438912,;RBM6,non_coding_transcript_exon_variant,,ENST00000441115,;RBM6,3_prime_UTR_variant,,ENST00000454079,;RBM6,3_prime_UTR_variant,,ENST00000434592,;RBM6,3_prime_UTR_variant,,ENST00000419610,;							MODERATE	2699/3372	P900Q	RBM6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000266022	8.24E-06	CCDS2809.1			1	
ACP2	0	LGGM	GRCh37	11	47264841	47264841	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	9	3	.	.	ENST00000256997.3:c.804G>T	p.Leu268=	p.L268=	ENST00000256997	NM_001610.2	268	ctG/ctT	0	1	1	UPI0000131FE1	0		ENST00000256997		ENSG00000134575	123		12			HGNC	p.L235L		ACP2		SNV			1				ENST00000529663	protein_coding			hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF108,Gene3D:3.40.50.1240,Pfam_domain:PF00328,Superfamily_domains:SSF53254		L		A		921/2203				F5GWV7_HUMAN			YES	ACP2,synonymous_variant,p.=,ENST00000256997,NM_001610.2;ACP2,synonymous_variant,p.=,ENST00000529444,;ACP2,synonymous_variant,p.=,ENST00000527256,;ACP2,synonymous_variant,p.=,ENST00000537863,;ACP2,synonymous_variant,p.=,ENST00000533929,;ACP2,synonymous_variant,p.=,ENST00000529663,;DDB2,downstream_gene_variant,,ENST00000256996,NM_000107.2;DDB2,downstream_gene_variant,,ENST00000378601,;DDB2,downstream_gene_variant,,ENST00000378603,;DDB2,downstream_gene_variant,,ENST00000378600,;ACP2,downstream_gene_variant,,ENST00000530453,;ACP2,downstream_gene_variant,,ENST00000444355,NM_001131064.1;ACP2,downstream_gene_variant,,ENST00000529788,;ACP2,non_coding_transcript_exon_variant,,ENST00000525230,;ACP2,non_coding_transcript_exon_variant,,ENST00000524769,;ACP2,intron_variant,,ENST00000534752,;ACP2,3_prime_UTR_variant,,ENST00000531004,;ACP2,3_prime_UTR_variant,,ENST00000531547,;ACP2,non_coding_transcript_exon_variant,,ENST00000534448,;							LOW	804/1272		PPAL_HUMAN			Transcript			.	ENSP00000256997		CCDS7928.1			1	
SBF1	0	LGGM	GRCh37	22	50902844	50902844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	23	3	.	.	ENST00000380817.3:c.1663C>A	p.Leu555Met	p.L555M	ENST00000380817	NM_002972.2	555	Ctg/Atg	0	1	1	UPI00001D69ED	0	NA	ENST00000380817		ENSG00000100241	10542		26	0.345		HGNC	p.L555M		SBF1		SNV			1				ENST00000380817	protein_coding	getma.org/?cm=var&var=hg19,22,50902844,G,T&fts=all		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF12335		L/M		T	neutral	1847/8008		getma.org/?cm=msa&ty=f&p=MTMR5_HUMAN&rb=540&re=764&var=L555M	tolerated(0.09)	Q86TK5_HUMAN			YES	SBF1,missense_variant,p.Leu555Met,ENST00000380817,NM_002972.2;SBF1,missense_variant,p.Leu556Met,ENST00000348911,;SBF1,missense_variant,p.Leu555Met,ENST00000390679,;SBF1,downstream_gene_variant,,ENST00000477234,;SBF1,downstream_gene_variant,,ENST00000399627,;							MODERATE	1663/5682	L555M	MTMR5_HUMAN			Transcript		benign(0.011)	.	ENSP00000370196		CCDS14091.2			1	
DAGLA	0	LGGM	GRCh37	11	61487659	61487659	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	3	.	.	ENST00000257215.5:c.32G>T	p.Trp11Leu	p.W11L	ENST00000257215	NM_006133.2	11	tGg/tTg	0	1	1	UPI00001678B3	0	NA	ENST00000257215		ENSG00000134780	1165		22	2.35		HGNC	p.W11L		DAGLA		SNV			1				ENST00000540717	protein_coding	getma.org/?cm=var&var=hg19,11,61487659,G,T&fts=all		hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87		W/L		T	medium	148/5757		getma.org/?cm=msa&ty=f&p=DGLA_HUMAN&rb=1&re=79&var=W11L	deleterious(0)				YES	DAGLA,missense_variant,p.Trp11Leu,ENST00000257215,NM_006133.2;DAGLA,missense_variant,p.Trp11Leu,ENST00000540717,;							MODERATE	32/3129	W11L	DGLA_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000257215		CCDS31578.1			1	
POLE	0	LGGM	GRCh37	12	133201357	133201357	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	21	3	.	.	ENST00000320574.5:c.6787C>A	p.Gln2263Lys	p.Q2263K	ENST00000320574	NM_006231.2	2263	Cag/Aag	0	1	1	UPI00001FBF97	0	NA	ENST00000320574		ENSG00000177084	9177		24	-0.675		HGNC	p.Q2274K		POLE		SNV			1				ENST00000455752	protein_coding	getma.org/?cm=var&var=hg19,12,133201357,G,T&fts=all		hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0		Q/K		T	neutral	6831/7840		getma.org/?cm=msa&ty=f&p=DPOE1_HUMAN&rb=2126&re=2286&var=Q2263K	tolerated(0.93)	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN			YES	POLE,missense_variant,p.Gln2263Lys,ENST00000320574,NM_006231.2;POLE,missense_variant,p.Gln2236Lys,ENST00000535270,;P2RX2,downstream_gene_variant,,ENST00000389110,NM_170682.2,NM_170683.2,NM_174873.1;P2RX2,downstream_gene_variant,,ENST00000343948,NM_001282165.1;P2RX2,downstream_gene_variant,,ENST00000350048,NM_016318.2;P2RX2,downstream_gene_variant,,ENST00000348800,;P2RX2,downstream_gene_variant,,ENST00000352418,NM_012226.3;P2RX2,downstream_gene_variant,,ENST00000351222,NM_174872.1;P2RX2,downstream_gene_variant,,ENST00000449132,NM_001282164.1;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,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000544692,;POLE,non_coding_transcript_exon_variant,,ENST00000541627,;POLE,non_coding_transcript_exon_variant,,ENST00000534922,;POLE,downstream_gene_variant,,ENST00000543516,;							MODERATE	6787/6861	Q2263K	DPOE1_HUMAN			Transcript		benign(0.001)	.	ENSP00000322570		CCDS9278.1			1	
CLPB	0	LGGM	GRCh37	11	72004527	72004527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	22	3	.	.	ENST00000294053.3:c.2008C>A	p.Gln670Lys	p.Q670K	ENST00000294053	NM_001258394.1	670	Cag/Aag	0	1	1	UPI00001359D5	0	NA	ENST00000294053		ENSG00000162129	30664		25	0.69		HGNC	p.Q278K		CLPB		SNV			1				ENST00000538021	protein_coding	getma.org/?cm=var&var=hg19,11,72004527,G,T&fts=all		hmmpanther:PTHR11638		Q/K		T	neutral	2182/3240		getma.org/?cm=msa&ty=f&p=CLPB_HUMAN&rb=622&re=700&var=Q670K	tolerated(0.39)	F5H392_HUMAN			YES	CLPB,missense_variant,p.Gln670Lys,ENST00000294053,NM_001258394.1,NM_030813.4;CLPB,missense_variant,p.Gln640Lys,ENST00000538039,NM_001258392.1;CLPB,missense_variant,p.Gln625Lys,ENST00000437826,;CLPB,missense_variant,p.Gln675Lys,ENST00000535990,;CLPB,missense_variant,p.Gln469Lys,ENST00000543042,;CLPB,missense_variant,p.Gln611Lys,ENST00000340729,NM_001258393.1;CLPB,missense_variant,p.Gln278Lys,ENST00000538021,;CLPB,downstream_gene_variant,,ENST00000544382,;CLPB,3_prime_UTR_variant,,ENST00000535477,;							MODERATE	2008/2124	Q670K	CLPB_HUMAN			Transcript		benign(0.001)	.	ENSP00000294053		CCDS8215.1			1	
KCNC3	0	LGGM	GRCh37	19	50827163	50827163	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	21	3	.	.	ENST00000477616.1:c.1047C>A	p.Thr349=	p.T349=	ENST00000477616	NM_004977.2	349	acC/acA	0	1	1	UPI000013EA5D	0		ENST00000477616		ENSG00000131398	6235		24			HGNC	p.T349T		KCNC3		SNV			1				ENST00000376959	protein_coding			hmmpanther:PTHR11537:SF123,hmmpanther:PTHR11537,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		T		T		1342/3176							YES	KCNC3,synonymous_variant,p.=,ENST00000376959,;KCNC3,synonymous_variant,p.=,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000391818,;KCNC3,intron_variant,,ENST00000474951,;							LOW	1047/2274		KCNC3_HUMAN			Transcript			.	ENSP00000434241		CCDS12793.1			1	
SYNJ2	0	LGGM	GRCh37	6	158507931	158507931	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	3	.	.	ENST00000355585.4:c.3253G>T	p.Gly1085Trp	p.G1085W	ENST00000355585	NM_001178088.1	1085	Ggg/Tgg	0	1	1	UPI000006E2F8	0	NA	ENST00000355585		ENSG00000078269	11504		22	0.975		HGNC	p.G1085W		SYNJ2		SNV							ENST00000367121	protein_coding	getma.org/?cm=var&var=hg19,6,158507931,G,T&fts=all		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98		G/W		T	low	3328/7378		getma.org/?cm=msa&ty=f&p=SYNJ2_HUMAN&rb=1009&re=1208&var=G1085W	deleterious_low_confidence(0)	B4DLC4_HUMAN			YES	SYNJ2,missense_variant,p.Gly1085Trp,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,missense_variant,p.Gly170Trp,ENST00000367112,;SYNJ2,missense_variant,p.Gly1085Trp,ENST00000367121,;SYNJ2,intron_variant,,ENST00000367122,;							MODERATE	3253/4491	G1085W	SYNJ2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000347792		CCDS5254.1			1	
SYNE1	0	LGGM	GRCh37	6	152651767	152651767	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	24	3	.	.	ENST00000367255.5:c.14053C>A	p.Gln4685Lys	p.Q4685K	ENST00000367255	NM_182961.3	4685	Cag/Aag	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		27	0.235		HGNC	p.Q4685K		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152651767,G,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150		Q/K		T	neutral	14655/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=4520&re=4719&var=Q4685K					YES	SYNE1,missense_variant,p.Gln4685Lys,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Gln4685Lys,ENST00000265368,;SYNE1,missense_variant,p.Gln4614Lys,ENST00000448038,;SYNE1,missense_variant,p.Gln4614Lys,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Gln4432Lys,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;							MODERATE	14053/26394	Q4685K	SYNE1_HUMAN			Transcript		benign(0.003)	.	ENSP00000356224		CCDS5236.2			1	
GPR179	0	LGGM	GRCh37	17	36486846	36486846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	17	3	.	.	ENST00000342292.4:c.2606G>T	p.Arg869Leu	p.R869L	ENST00000342292	NM_001004334.2	869	cGg/cTg	0	1	1	UPI000041A9C2	0	NA	ENST00000342292		ENSG00000188888	31371		20	0.805		HGNC	p.R869L		GPR179		SNV			1				ENST00000342292	protein_coding	getma.org/?cm=var&var=hg19,17,36486846,C,A&fts=all		hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7,Low_complexity_(Seg):seg		R/L		A	low	2627/7980		getma.org/?cm=msa&ty=f&p=GP179_HUMAN&rb=835&re=883&var=R869L	deleterious(0)				YES	GPR179,missense_variant,p.Arg869Leu,ENST00000342292,NM_001004334.2;GPR179,upstream_gene_variant,,ENST00000584976,;							MODERATE	2606/7104	R869L	GP179_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000345060		CCDS42308.1			1	
PIGF	0	LGGM	GRCh37	2	46808684	46808684	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	29	3	.	.	ENST00000281382.6:c.593C>A	p.Ala198Asp	p.A198D	ENST00000281382	NM_002643.3	198	gCt/gAt	0	1	1	UPI0000030AE2	0	NA	ENST00000281382		ENSG00000151665	8962		32	2.045		HGNC	p.A198D		PIGF		SNV							ENST00000281382	protein_coding	getma.org/?cm=var&var=hg19,2,46808684,G,T&fts=all		Pfam_domain:PF06699,hmmpanther:PTHR15095,Transmembrane_helices:TMhelix		A/D		T	medium	764/1372		getma.org/?cm=msa&ty=f&p=PIGF_HUMAN&rb=12&re=206&var=A198D	tolerated(0.08)	Q6IB04_HUMAN,E5RIN5_HUMAN			YES	PIGF,missense_variant,p.Ala198Asp,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,;							MODERATE	593/660	A198D	PIGF_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000281382		CCDS1827.1			1	
DEPDC5	0	LGGM	GRCh37	22	32239781	32239781	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	42	3	.	.	ENST00000382112.3:c.2757C>A	p.Ala919=	p.A919=	ENST00000382112	NM_001136029.2	919	gcC/gcA	0	1		UPI00004708D4	0		ENST00000400246		ENSG00000100150	18423		45			HGNC	p.A850A		DEPDC5		SNV			1				ENST00000382105	protein_coding			hmmpanther:PTHR13179		A		A		2926/5410				C9JGS4_HUMAN				DEPDC5,synonymous_variant,p.=,ENST00000400246,;DEPDC5,synonymous_variant,p.=,ENST00000266091,;DEPDC5,synonymous_variant,p.=,ENST00000400249,NM_014662.3;DEPDC5,synonymous_variant,p.=,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,synonymous_variant,p.=,ENST00000400248,;DEPDC5,synonymous_variant,p.=,ENST00000382111,;DEPDC5,synonymous_variant,p.=,ENST00000382105,;DEPDC5,synonymous_variant,p.=,ENST00000535622,NM_001242897.1;DEPDC5,synonymous_variant,p.=,ENST00000433147,;DEPDC5,upstream_gene_variant,,ENST00000494060,;DEPDC5,synonymous_variant,p.=,ENST00000448753,;DEPDC5,downstream_gene_variant,,ENST00000490731,;DEPDC5,downstream_gene_variant,,ENST00000471914,;							LOW	2784/4659		DEPD5_HUMAN			Transcript			.	ENSP00000383105					1	
ZNF618	0	LGGM	GRCh37	9	116811658	116811658	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	24	3	.	.	ENST00000288466.7:c.1797C>A	p.Pro599=	p.P599=	ENST00000288466	NM_133374.2	599	ccC/ccA	0	1		UPI000046FD4E	0		ENST00000374126		ENSG00000157657	29416		27			HGNC	p.P692P		ZNF618		SNV							ENST00000374126	protein_coding			Superfamily_domains:SSF53098,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12		P		A		2175/3018								ZNF618,synonymous_variant,p.=,ENST00000288466,NM_133374.2;ZNF618,synonymous_variant,p.=,ENST00000374126,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;							LOW	2076/2865		ZN618_HUMAN			Transcript			.	ENSP00000363241					1	
C11orf82	0	LGGM	GRCh37	11	82643894	82643894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	38	3	.	.	ENST00000533655.1:c.1514C>A	p.Pro505His	p.P505H	ENST00000533655	NM_145018.3	505	cCt/cAt	0	1		UPI00017A75E5	0	NA	ENST00000329143		ENSG00000165490	26351		41	1.87		HGNC	p.P204H		C11orf82		SNV							ENST00000329143	protein_coding	getma.org/?cm=var&var=hg19,11,82643894,C,A&fts=all				P/H		A	low	1284/3087		getma.org/?cm=msa&ty=f&p=NOXIN_HUMAN&rb=131&re=996&var=P505H		B4DMA1_HUMAN				C11orf82,missense_variant,p.Pro505His,ENST00000533655,NM_145018.3;C11orf82,missense_variant,p.Pro505His,ENST00000430323,;C11orf82,missense_variant,p.Pro204His,ENST00000329143,;C11orf82,3_prime_UTR_variant,,ENST00000528759,;C11orf82,intron_variant,,ENST00000525361,;PRCP,intron_variant,,ENST00000534396,;C11orf82,downstream_gene_variant,,ENST00000525388,;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,;							MODERATE	611/2094	P505H				Transcript		probably_damaging(0.935)	.	ENSP00000329930					1	
TFB1M	0	LGGM	GRCh37	6	155606359	155606359	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	23	3	.	.	ENST00000367166.4:c.599C>A	p.Ala200Asp	p.A200D	ENST00000367166	NM_016020.3	200	gCt/gAt	0	1	1	UPI000003B01A	0	getma.org/pdb.php?prot=TFB1M_HUMAN&from=26&to=309&var=A200D	ENST00000367166		ENSG00000029639	17037		26	2.94		HGNC	p.A200D		TFB1M		SNV			1				ENST00000367166	protein_coding	getma.org/?cm=var&var=hg19,6,155606359,G,T&fts=all		HAMAP:MF_00607,PROSITE_profiles:PS51689,hmmpanther:PTHR11727,hmmpanther:PTHR11727:SF10,Gene3D:3.40.50.150,Pfam_domain:PF00398,SMART_domains:SM00650,Superfamily_domains:SSF53335		A/D		T	medium	655/1424		getma.org/?cm=msa&ty=f&p=TFB1M_HUMAN&rb=26&re=309&var=A200D	deleterious(0.01)	E5KTM5_HUMAN			YES	TFB1M,missense_variant,p.Ala200Asp,ENST00000367166,NM_016020.3;TFB1M,non_coding_transcript_exon_variant,,ENST00000468889,;TFB1M,non_coding_transcript_exon_variant,,ENST00000489874,;TFB1M,intron_variant,,ENST00000470239,;TFB1M,upstream_gene_variant,,ENST00000495806,;							MODERATE	599/1041	A200D	TFB1M_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000356134		CCDS5248.1			1	
IQCD	0	LGGM	GRCh37	12	113633648	113633648	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	40	3	.	.	ENST00000299732.2:c.776C>A	p.Ser259Ter	p.S259*	ENST00000299732	NM_138451.1	259	tCg/tAg	0	1		UPI0000EE27FD	0		ENST00000416617		ENSG00000166578	25168		43			HGNC	p.S361X		IQCD		SNV							ENST00000416617	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31598		S/*		T		1273/1673								IQCD,stop_gained,p.Ser361Ter,ENST00000416617,;IQCD,stop_gained,p.Ser259Ter,ENST00000299732,NM_138451.1;RITA1,downstream_gene_variant,,ENST00000548278,NM_032848.1;RITA1,downstream_gene_variant,,ENST00000549621,;RITA1,downstream_gene_variant,,ENST00000552495,NM_001286215.1;IQCD,downstream_gene_variant,,ENST00000546692,;RP11-545P7.4,upstream_gene_variant,,ENST00000552525,;							HIGH	1082/1350		IQCD_HUMAN			Transcript			.	ENSP00000400669					1	
SLC32A1	0	LGGM	GRCh37	20	37356319	37356319	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	10	3	.	.	ENST00000217420.1:c.615G>T	p.Val205=	p.V205=	ENST00000217420	NM_080552.2	205	gtG/gtT	0	1	1	UPI0000043423	0		ENST00000217420		ENSG00000101438	11018		13			HGNC	p.V205V		SLC32A1		SNV							ENST00000217420	protein_coding			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221		V		T		878/2574							YES	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;							LOW	615/1578		VIAAT_HUMAN			Transcript			.	ENSP00000217420		CCDS13307.1			1	
NBEAL2	0	LGGM	GRCh37	3	47043214	47043214	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	30	3	.	.	ENST00000450053.3:c.4680G>T	p.Leu1560=	p.L1560=	ENST00000450053	NM_015175.2	1560	ctG/ctT	0	1	1	UPI000022C020	0		ENST00000450053		ENSG00000160796	31928		33			HGNC	p.L1560L		NBEAL2		SNV			1				ENST00000450053	protein_coding			hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743		L		T		4859/8827				B4DVX0_HUMAN,B4DDY6_HUMAN			YES	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,,ENST00000423436,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000441027,;							LOW	4680/8265		NBEL2_HUMAN			Transcript			.	ENSP00000415034		CCDS46817.1			1	
CEP170B	0	LGGM	GRCh37	14	105349480	105349480	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	9	3	.	.	ENST00000414716.3:c.686C>A	p.Pro229His	p.P229H	ENST00000414716	NM_001112726.2	229	cCc/cAc	0	1	1	UPI00001FDCF7	0	NA	ENST00000414716		ENSG00000099814	20362		12	2.585		HGNC	p.P159H		CEP170B		SNV							ENST00000418279	protein_coding	getma.org/?cm=var&var=hg19,14,105349480,C,A&fts=all		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18		P/H		A	medium	914/6705		getma.org/?cm=msa&ty=f&p=K0284_HUMAN&rb=91&re=290&var=P229H	deleterious(0)	E9PFC1_HUMAN			YES	CEP170B,missense_variant,p.Pro230His,ENST00000453495,;CEP170B,missense_variant,p.Pro229His,ENST00000414716,NM_001112726.2;CEP170B,missense_variant,p.Pro159His,ENST00000556508,NM_015005.2;CEP170B,missense_variant,p.Pro159His,ENST00000418279,;							MODERATE	686/4665	P229H	C170B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000404151		CCDS45175.1			1	
CRYGN	0	LGGM	GRCh37	7	151133276	151133276	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	21	3	.	.	ENST00000337323.2:c.406G>T	p.Gly136Trp	p.G136W	ENST00000337323	NM_144727.1	136	Ggg/Tgg	0	1	1	UPI000006F59A	0	NA	ENST00000337323		ENSG00000127377	20458		24	2.56		HGNC	p.G136W		CRYGN		SNV							ENST00000337323	protein_coding	getma.org/?cm=var&var=hg19,7,151133276,C,A&fts=all		Superfamily_domains:SSF49695,Pfam_domain:PF00030,Gene3D:2.60.20.10,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF22,PROSITE_profiles:PS50915		G/W		A	medium	533/754		getma.org/?cm=msa&ty=f&p=CRGN_HUMAN&rb=96&re=155&var=G136W	deleterious(0)				YES	CRYGN,missense_variant,p.Gly136Trp,ENST00000337323,NM_144727.1;CRYGN,intron_variant,,ENST00000491928,;MIR3907,upstream_gene_variant,,ENST00000579424,;RP4-555L14.4,intron_variant,,ENST00000465549,;CRYGN,non_coding_transcript_exon_variant,,ENST00000476631,;CRYGN,non_coding_transcript_exon_variant,,ENST00000462809,;CRYGN,non_coding_transcript_exon_variant,,ENST00000478106,;							MODERATE	406/549	G136W	CRGN_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000338613		CCDS5926.1			1	
GPI	0	LGGM	GRCh37	19	34857716	34857716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	23	3	.	.	ENST00000415930.3:c.359G>T	p.Arg120Leu	p.R120L	ENST00000415930	NM_001184722.1	120	cGg/cTg	0	1		UPI0000111E50	0	getma.org/pdb.php?prot=G6PI_HUMAN&from=54&to=546&var=R81L	ENST00000356487		ENSG00000105220	4458		26	2.825		HGNC	p.R81L		GPI		SNV			1				ENST00000589399	protein_coding	getma.org/?cm=var&var=hg19,19,34857716,G,T&fts=all		PROSITE_profiles:PS51463,HAMAP:MF_00473,hmmpanther:PTHR11469:SF4,hmmpanther:PTHR11469,Gene3D:3.40.50.10490,Pfam_domain:PF00342,Superfamily_domains:SSF53697		R/L		T	medium	483/2210		getma.org/?cm=msa&ty=f&p=G6PI_HUMAN&rb=54&re=546&var=R81L	tolerated_low_confidence(0.16)	K7EP41_HUMAN				GPI,missense_variant,p.Arg120Leu,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Arg81Leu,ENST00000356487,NM_000175.3;GPI,missense_variant,p.Arg96Leu,ENST00000588991,;GPI,missense_variant,p.Arg81Leu,ENST00000586425,;GPI,missense_variant,p.Arg120Leu,ENST00000587384,;GPI,missense_variant,p.Arg120Leu,ENST00000592277,;GPI,missense_variant,p.Arg81Leu,ENST00000589640,;GPI,missense_variant,p.Arg81Leu,ENST00000589399,;GPI,missense_variant,p.Arg81Leu,ENST00000591204,;GPI,missense_variant,p.Arg81Leu,ENST00000590375,;GPI,downstream_gene_variant,,ENST00000587521,;GPI,3_prime_UTR_variant,,ENST00000592144,;GPI,non_coding_transcript_exon_variant,,ENST00000589504,;							MODERATE	242/1677	R81L	G6PI_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000348877		CCDS12437.1			1	
SMAD9	0	LGGM	GRCh37	13	37453642	37453642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	28	3	.	.	ENST00000379826.4:c.185C>A	p.Pro62Gln	p.P62Q	ENST00000379826	NM_001127217.2	62	cCg/cAg	0	1	1	UPI0000135A85	0	getma.org/pdb.php?prot=SMAD9_HUMAN&from=34&to=135&var=P62Q	ENST00000379826		ENSG00000120693	6774		31	1.17		HGNC	p.P62Q		SMAD9		SNV			1				ENST00000379826	protein_coding	getma.org/?cm=var&var=hg19,13,37453642,G,T&fts=all		Superfamily_domains:0040928,SMART_domains:SM00523,Pfam_domain:PF03165,Gene3D:1ozjA00,hmmpanther:PTHR13703:SF37,hmmpanther:PTHR13703,PROSITE_profiles:PS51075		P/Q		T	low	528/5592		getma.org/?cm=msa&ty=f&p=SMAD9_HUMAN&rb=34&re=135&var=P62Q	tolerated(0.85)				YES	SMAD9,missense_variant,p.Pro62Gln,ENST00000379826,NM_001127217.2;SMAD9,missense_variant,p.Pro62Gln,ENST00000350148,NM_005905.5;SMAD9,missense_variant,p.Pro62Gln,ENST00000399275,;SMAD9,non_coding_transcript_exon_variant,,ENST00000483941,;							MODERATE	185/1404	P62Q	SMAD9_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000369154		CCDS45032.1			1	
VPS13D	0	LGGM	GRCh37	1	12336562	12336562	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	41	3	.	.	ENST00000358136.3:c.2917C>A	p.Arg973=	p.R973=	ENST00000358136	NM_015378.2	973	Cgg/Agg	0	1	1	UPI0000451CA9	0		ENST00000358136		ENSG00000048707	23595		44			HGNC	p.R973R		VPS13D		SNV							ENST00000356315	protein_coding			hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166		R		A		3047/16318				M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,synonymous_variant,p.=,ENST00000358136,NM_015378.2;VPS13D,synonymous_variant,p.=,ENST00000356315,NM_018156.2;VPS13D,upstream_gene_variant,,ENST00000011700,;							LOW	2917/13167					Transcript			.	ENSP00000350854		CCDS30588.1			1	
PEG3	0	LGGM	GRCh37	19	57333123	57333123	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	64	4	.	.	ENST00000326441.9:c.566-1G>T		p.X189_splice	ENST00000326441	NM_006210.2			0	1	1	UPI000006D36D	0		ENST00000326441		ENSG00000198300	8826		68			HGNC	-		PEG3		SNV							ENST00000423103	protein_coding							A		-/8723				M0QXG1_HUMAN			YES	PEG3,splice_acceptor_variant,,ENST00000326441,NM_006210.2;PEG3,splice_acceptor_variant,,ENST00000423103,NM_001146184.1;PEG3,splice_acceptor_variant,,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,splice_acceptor_variant,,ENST00000599534,NM_001146186.1;PEG3,splice_acceptor_variant,,ENST00000599577,;PEG3,splice_acceptor_variant,,ENST00000593695,;ZIM2,splice_acceptor_variant,,ENST00000391708,NM_001146327.1,NM_001146326.1;ZIM2,splice_acceptor_variant,,ENST00000599935,;ZIM2,splice_acceptor_variant,,ENST00000221722,NM_015363.4;ZIM2,splice_acceptor_variant,,ENST00000593711,;ZIM2,splice_acceptor_variant,,ENST00000601070,;PEG3,splice_acceptor_variant,,ENST00000600833,;ZIM2,downstream_gene_variant,,ENST00000593931,;PEG3,downstream_gene_variant,,ENST00000594389,;PEG3,downstream_gene_variant,,ENST00000594706,;PEG3,downstream_gene_variant,,ENST00000596261,;ZIM2,splice_acceptor_variant,,ENST00000595671,;ZIM2,splice_acceptor_variant,,ENST00000597281,;							HIGH	566/4767		PEG3_HUMAN			Transcript			.	ENSP00000326581		CCDS12948.1			1	
OR2AK2	0	LGGM	GRCh37	1	248129487	248129487	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	46	4	.	.	ENST00000366480.3:c.854G>T	p.Arg285Leu	p.R285L	ENST00000366480	NM_001004491.1	285	cGg/cTg	0	1	1	UPI00003B2873	0	NA	ENST00000366480		ENSG00000187080	19569		50	-0.35		HGNC	p.R285L		OR2AK2		SNV							ENST00000366480	protein_coding	getma.org/?cm=var&var=hg19,1,248129487,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF1,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		R/L		T	neutral	953/1107		getma.org/?cm=msa&ty=f&p=O2AK2_HUMAN&rb=154&re=298&var=R285L	deleterious(0.02)				YES	OR2AK2,missense_variant,p.Arg285Leu,ENST00000366480,NM_001004491.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	854/1008	R285L	O2AK2_HUMAN			Transcript		benign(0.095)	.	ENSP00000355436		CCDS31102.1			1	
MTMR14	0	LGGM	GRCh37	3	9730734	9730734	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	16	4	.	.	ENST00000296003.4:c.1401G>T	p.Leu467=	p.L467=	ENST00000296003	NM_001077525.2	467	ctG/ctT	0	1	1	UPI000007423D	0		ENST00000296003		ENSG00000163719	26190		20			HGNC	p.L467L		MTMR14		SNV			1				ENST00000351233	protein_coding			hmmpanther:PTHR13524		L		T		1523/2494							YES	MTMR14,synonymous_variant,p.=,ENST00000296003,NM_001077525.2;MTMR14,synonymous_variant,p.=,ENST00000353332,NM_001077526.2;MTMR14,synonymous_variant,p.=,ENST00000351233,NM_022485.4;MTMR14,synonymous_variant,p.=,ENST00000420925,;MTMR14,downstream_gene_variant,,ENST00000431250,;MTMR14,3_prime_UTR_variant,,ENST00000414996,;MTMR14,3_prime_UTR_variant,,ENST00000447144,;							LOW	1401/1953		MTMRE_HUMAN			Transcript			.	ENSP00000296003		CCDS43043.1			1	
TTC14	0	LGGM	GRCh37	3	180320803	180320803	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	59	4	.	.	ENST00000296015.4:c.286G>C	p.Asp96His	p.D96H	ENST00000296015	NM_133462.3	96	Gat/Cat	0	1	1	UPI00000720AE	0	NA	ENST00000296015		ENSG00000163728	24697		63	1.245		HGNC	p.D96H		TTC14		SNV							ENST00000491380	protein_coding	getma.org/?cm=var&var=hg19,3,180320803,G,C&fts=all		hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184		D/H		C	low	418/2881		getma.org/?cm=msa&ty=f&p=TTC14_HUMAN&rb=1&re=200&var=D96H	deleterious(0.04)	C9JBA2_HUMAN,C9J974_HUMAN			YES	TTC14,missense_variant,p.Asp96His,ENST00000412756,NM_001042601.2;TTC14,missense_variant,p.Asp96His,ENST00000296015,NM_133462.3;TTC14,missense_variant,p.Asp96His,ENST00000382584,NM_001288582.1;TTC14,missense_variant,p.Asp96His,ENST00000491380,;TTC14,splice_region_variant,,ENST00000492617,;TTC14,splice_region_variant,,ENST00000495660,;CCDC39,intron_variant,,ENST00000473854,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,missense_variant,p.Asp96His,ENST00000465065,;TTC14,missense_variant,p.Asp96His,ENST00000470669,;TTC14,missense_variant,p.Asp96His,ENST00000462895,;							MODERATE	286/2313	D96H	TTC14_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000296015		CCDS3237.1			1	
ACIN1	0	LGGM	GRCh37	14	23549817	23549817	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	77	4	.	.	ENST00000262710.1:c.901C>A	p.Leu301Met	p.L301M	ENST00000262710	NM_001164814.1	301	Ctg/Atg	0	1	1	UPI000013D308	0	NA	ENST00000262710		ENSG00000100813	17066		81	0.69		HGNC	p.L301M		ACIN1		SNV							ENST00000262710	protein_coding	getma.org/?cm=var&var=hg19,14,23549817,G,T&fts=all		hmmpanther:PTHR14127		L/M		T	neutral	1229/4935		getma.org/?cm=msa&ty=f&p=ACINU_HUMAN&rb=107&re=306&var=L301M		S4R3H4_HUMAN			YES	ACIN1,missense_variant,p.Leu301Met,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,missense_variant,p.Leu261Met,ENST00000457657,NM_001164815.1;ACIN1,missense_variant,p.Leu243Met,ENST00000605057,;ACIN1,missense_variant,p.Leu301Met,ENST00000555053,;ACIN1,upstream_gene_variant,,ENST00000555352,;ACIN1,upstream_gene_variant,,ENST00000554708,;							MODERATE	901/4026	L301M	ACINU_HUMAN			Transcript		benign(0.03)	.	ENSP00000262710		CCDS9587.1			1	
KRT6B	0	LGGM	GRCh37	12	52845721	52845721	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	29	4	.	.	ENST00000252252.3:c.142G>T	p.Gly48Cys	p.G48C	ENST00000252252	NM_005555.3	48	Ggt/Tgt	0	1	1	UPI000013CD50	0	NA	ENST00000252252		ENSG00000185479	6444		33	2.175		HGNC	p.G48C		KRT6B		SNV			1				ENST00000252252	protein_coding	getma.org/?cm=var&var=hg19,12,52845721,C,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Low_complexity_(Seg):seg		G/C		A	medium	190/2282		getma.org/?cm=msa&ty=f&p=K2C6B_HUMAN&rb=1&re=161&var=G48C	deleterious(0)				YES	KRT6B,missense_variant,p.Gly48Cys,ENST00000252252,NM_005555.3;							MODERATE	142/1695	G48C	K2C6B_HUMAN			Transcript		unknown(0)	.	ENSP00000252252		CCDS8828.1			1	
TNP2	0	LGGM	GRCh37	16	11363110	11363110	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	14	4	.	.	ENST00000312693.3:c.10C>A	p.Gln4Lys	p.Q4K	ENST00000312693	NM_005425.4	4	Cag/Aag	0	1	1	UPI000013612C	0	NA	ENST00000312693		ENSG00000178279	11952		18	-1.625		HGNC	p.Q4K		TNP2		SNV							ENST00000312693	protein_coding	getma.org/?cm=var&var=hg19,16,11363110,G,T&fts=all		Pfam_domain:PF01254,hmmpanther:PTHR17488		Q/K		T	neutral	80/626		getma.org/?cm=msa&ty=f&p=STP2_HUMAN&rb=1&re=138&var=Q4K	tolerated(1)	Q4VB56_HUMAN			YES	TNP2,missense_variant,p.Gln4Lys,ENST00000312693,NM_005425.4;RMI2,intron_variant,,ENST00000572173,;PRM3,downstream_gene_variant,,ENST00000327157,NM_021247.1;SNORA48,downstream_gene_variant,,ENST00000390926,;TNP2,non_coding_transcript_exon_variant,,ENST00000560751,;RMI2,intron_variant,,ENST00000573910,;							MODERATE	10/417	Q4K	STP2_HUMAN			Transcript		benign(0)	.	ENSP00000325738		CCDS45410.1			1	
C11orf35	0	LGGM	GRCh37	11	558241	558241	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	32	4	.	.	ENST00000329451.3:c.319C>A	p.His107Asn	p.H107N	ENST00000329451	NM_173573.2	107	Cac/Aac	0	1	1	UPI0000456441	0	NA	ENST00000329451		ENSG00000185522	28561		36	0.345		HGNC	p.H107N		C11orf35		SNV							ENST00000329451	protein_coding	getma.org/?cm=var&var=hg19,11,558241,G,T&fts=all		hmmpanther:PTHR19956,hmmpanther:PTHR19956:SF5		H/N		T	neutral	382/2084		getma.org/?cm=msa&ty=f&p=CK035_HUMAN&rb=72&re=138&var=H107N	tolerated(0.32)				YES	C11orf35,missense_variant,p.His107Asn,ENST00000329451,NM_173573.2;C11orf35,missense_variant,p.His114Asn,ENST00000441853,;C11orf35,missense_variant,p.His117Asn,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,;RASSF7,upstream_gene_variant,,ENST00000414138,;C11orf35,upstream_gene_variant,,ENST00000469990,;RASSF7,upstream_gene_variant,,ENST00000531112,;C11orf35,downstream_gene_variant,,ENST00000492515,;							MODERATE	319/1905	H107N	CK035_HUMAN			Transcript		benign(0.015)	.	ENSP00000331167		CCDS7701.1			1	
PPP1R3D	0	LGGM	GRCh37	20	58514152	58514152	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	12	4	.	.	ENST00000370996.3:c.835T>C	p.Cys279Arg	p.C279R	ENST00000370996	NM_006242.3	279	Tgt/Cgt	0	1	1	UPI0000131FC4	0	NA	ENST00000370996		ENSG00000132825	9294	8.80E-05	16	1.215		HGNC	p.C279R	rs769161377	PPP1R3D		SNV							ENST00000370996	protein_coding	getma.org/?cm=var&var=hg19,20,58514152,A,G&fts=all		PIRSF_domain:PIRSF038207,hmmpanther:PTHR12307:SF11,hmmpanther:PTHR12307		C/R		G	low	1201/3459		getma.org/?cm=msa&ty=f&p=PPR3D_HUMAN&rb=249&re=299&var=C279R	deleterious(0)				YES	PPP1R3D,missense_variant,p.Cys279Arg,ENST00000370996,NM_006242.3;FAM217B,intron_variant,,ENST00000358293,NM_001190826.1;FAM217B,upstream_gene_variant,,ENST00000360816,NM_001190827.1,NM_022106.2;FAM217B,upstream_gene_variant,,ENST00000421092,;FAM217B,upstream_gene_variant,,ENST00000469084,;							MODERATE	835/900	C279R	PPR3D_HUMAN			Transcript		benign(0.075)	.	ENSP00000360035	8.24E-06	CCDS13483.1			1	
PDGFRA	0	LGGM	GRCh37	4	55139774	55139774	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	47	4	.	.	ENST00000257290.5:c.1435C>A	p.Arg479=	p.R479=	ENST00000257290	NM_006206.4	479	Cga/Aga	0	1	1	UPI0000131793	0		ENST00000257290		ENSG00000134853	8803		51			HGNC	p.R479R		PDGFRA		SNV			1				ENST00000509490	protein_coding			hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615		R		A		1766/6576				D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN			YES	PDGFRA,synonymous_variant,p.=,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,synonymous_variant,p.=,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000507536,;PDGFRA,upstream_gene_variant,,ENST00000461294,;							LOW	1435/3270		PGFRA_HUMAN			Transcript			.	ENSP00000257290		CCDS3495.1			1	
NID1	0	LGGM	GRCh37	1	236201530	236201530	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	74	4	.	.	ENST00000264187.6:c.1159C>A	p.Arg387Ser	p.R387S	ENST00000264187	NM_002508.2	387	Cgc/Agc	0	1	1	UPI000013D4D9	0	NA	ENST00000264187		ENSG00000116962	7821		78	1.975		HGNC	p.R387S	COSM1501706	NID1		SNV						1	ENST00000264187	protein_coding	getma.org/?cm=var&var=hg19,1,236201530,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,SMART_domains:SM00179,Superfamily_domains:SSF57184		R/S		T	medium	1242/5864		getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=386&re=426&var=R387S	tolerated(0.09)				YES	NID1,missense_variant,p.Arg387Ser,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Arg387Ser,ENST00000366595,;					1		MODERATE	1159/3744	R387S	NID1_HUMAN			Transcript		benign(0.012)	.	ENSP00000264187		CCDS1608.1			1	
OR4Q3	0	LGGM	GRCh37	14	20216319	20216319	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	57	4	.	.	ENST00000331723.1:c.733C>A	p.Leu245Met	p.L245M	ENST00000331723	NM_172194.1	245	Ctg/Atg	0	1	1	UPI0000061EF0	0	NA	ENST00000331723		ENSG00000182652	15426		61	2.235		HGNC	p.L245M	COSM322331	OR4Q3		SNV						1	ENST00000331723	protein_coding	getma.org/?cm=var&var=hg19,14,20216319,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		L/M		A	medium	733/942		getma.org/?cm=msa&ty=f&p=OR4Q3_HUMAN&rb=140&re=281&var=L245M	deleterious(0.02)				YES	OR4Q3,missense_variant,p.Leu245Met,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;					1		MODERATE	733/942	L245M	OR4Q3_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000330049		CCDS32020.1			1	
TANGO6	0	LGGM	GRCh37	16	68901019	68901019	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	51	4	.	.	ENST00000261778.1:c.890C>A	p.Ala297Asp	p.A297D	ENST00000261778	NM_024562.1	297	gCc/gAc	0	1	1	UPI00001FF4A8	0	NA	ENST00000261778		ENSG00000103047	25749		55	2.34		HGNC	p.A297D		TANGO6		SNV							ENST00000261778	protein_coding	getma.org/?cm=var&var=hg19,16,68901019,C,A&fts=all		hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1		A/D		A	medium	902/4816		getma.org/?cm=msa&ty=f&p=TMCO7_HUMAN&rb=201&re=400&var=A297D	deleterious(0)	B3KTB6_HUMAN			YES	TANGO6,missense_variant,p.Ala297Asp,ENST00000261778,NM_024562.1;TANGO6,non_coding_transcript_exon_variant,,ENST00000564180,;TANGO6,downstream_gene_variant,,ENST00000561566,;							MODERATE	890/3285	A297D	TNG6_HUMAN			Transcript		benign(0.342)	.	ENSP00000261778		CCDS45516.1			1	
ZNF618	0	LGGM	GRCh37	9	116764936	116764936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	42	4	.	.	ENST00000288466.7:c.448C>A	p.Gln150Lys	p.Q150K	ENST00000288466	NM_133374.2	150	Caa/Aaa	0	1		UPI000046FD4E	0	getma.org/pdb.php?prot=B5MDS3_HUMAN&from=139&to=155&var=Q150K	ENST00000374126		ENSG00000157657	29416		46	0.895		HGNC	p.Q182K		ZNF618		SNV							ENST00000374126	protein_coding	getma.org/?cm=var&var=hg19,9,116764936,C,A&fts=all		Superfamily_domains:SSF57667,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12		Q/K		A	low	643/3018		getma.org/?cm=msa&ty=f&p=B5MDS3_HUMAN&rb=109&re=185&var=Q150K	tolerated_low_confidence(0.14)					ZNF618,missense_variant,p.Gln150Lys,ENST00000288466,NM_133374.2;ZNF618,missense_variant,p.Gln182Lys,ENST00000374126,;ZNF618,missense_variant,p.Gln150Lys,ENST00000374124,;ZNF618,missense_variant,p.Gln150Lys,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;							MODERATE	544/2865	Q150K	ZN618_HUMAN			Transcript		benign(0.103)	.	ENSP00000363241					1	
CCDC68	0	LGGM	GRCh37	18	52586534	52586534	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	37	4	.	.	ENST00000591504.1:c.757C>A	p.Gln253Lys	p.Q253K	ENST00000591504	NM_025214.2	253	Caa/Aaa	0	1		UPI00000435F1	0	NA	ENST00000337363		ENSG00000166510	24350		41	2.36		HGNC	p.Q253K		CCDC68		SNV							ENST00000591504	protein_coding	getma.org/?cm=var&var=hg19,18,52586534,G,T&fts=all		hmmpanther:PTHR23171:SF3,hmmpanther:PTHR23171		Q/K		T	medium	929/1457		getma.org/?cm=msa&ty=f&p=CCD68_HUMAN&rb=140&re=300&var=Q253K	deleterious(0.01)					CCDC68,missense_variant,p.Gln253Lys,ENST00000591504,NM_025214.2;CCDC68,missense_variant,p.Gln253Lys,ENST00000432185,;CCDC68,missense_variant,p.Gln253Lys,ENST00000337363,NM_001143829.1;CCDC68,missense_variant,p.Gln121Lys,ENST00000592040,;							MODERATE	757/1008	Q253K	CCD68_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337209		CCDS11959.1			1	
DUOX1	0	LGGM	GRCh37	15	45433153	45433153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	52	4	.	.	ENST00000321429.4:c.1450G>T	p.Gly484Trp	p.G484W	ENST00000321429	NM_017434.3	484	Ggg/Tgg	0	1	1	UPI000006E50E	0	getma.org/pdb.php?prot=DUOX1_HUMAN&from=29&to=557&var=G484W	ENST00000321429		ENSG00000137857	3062		56	3.72		HGNC	p.W426L		DUOX1		SNV							ENST00000561220	protein_coding	getma.org/?cm=var&var=hg19,15,45433153,G,T&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		G/W		T	high	1857/5738		getma.org/?cm=msa&ty=f&p=DUOX1_HUMAN&rb=29&re=557&var=G484W	deleterious(0)	H0YNR5_HUMAN			YES	DUOX1,missense_variant,p.Gly484Trp,ENST00000321429,NM_017434.3;DUOX1,missense_variant,p.Gly484Trp,ENST00000389037,NM_175940.1;DUOX1,missense_variant,p.Gly130Trp,ENST00000561166,;DUOX1,missense_variant,p.Trp426Leu,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000558991,;							MODERATE	1450/4656	G484W	DUOX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000317997		CCDS32221.1			1	
TPST2	0	LGGM	GRCh37	22	26937501	26937501	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	6	4	.	.	ENST00000338754.4:c.96G>C	p.Arg32=	p.R32=	ENST00000338754	NM_003595.3	32	cgG/cgC	0	1	1	UPI0000000C23	0		ENST00000338754		ENSG00000128294	12021		10			HGNC	p.R32R		TPST2		SNV							ENST00000440953	protein_coding			hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF5		R		G		367/2188				B7Z976_HUMAN,B1AHK0_HUMAN,B1AHJ9_HUMAN,B1AHJ8_HUMAN,B1AHJ7_HUMAN,B1AHJ6_HUMAN			YES	TPST2,synonymous_variant,p.=,ENST00000338754,NM_003595.3;TPST2,synonymous_variant,p.=,ENST00000403880,;TPST2,synonymous_variant,p.=,ENST00000398110,NM_001008566.1;TPST2,synonymous_variant,p.=,ENST00000442495,;TPST2,synonymous_variant,p.=,ENST00000454778,;TPST2,synonymous_variant,p.=,ENST00000440953,;TPST2,synonymous_variant,p.=,ENST00000450022,;TPST2,synonymous_variant,p.=,ENST00000453117,;TPST2,upstream_gene_variant,,ENST00000445720,;							LOW	96/1134		TPST2_HUMAN			Transcript			.	ENSP00000339813		CCDS13839.1			1	
GPD1L	0	LGGM	GRCh37	3	32180189	32180189	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	73	4	.	.	ENST00000282541.5:c.336C>A	p.Pro112=	p.P112=	ENST00000282541	NM_015141.3	112	ccC/ccA	0	1	1	UPI000006E26D	0		ENST00000282541		ENSG00000152642	28956		77			HGNC	p.P53Q		GPD1L		SNV			1				ENST00000428684	protein_coding			hmmpanther:PTHR11728,hmmpanther:PTHR11728:SF7,Gene3D:3.40.50.720,Pfam_domain:PF01210,TIGRFAM_domain:TIGR03376,PIRSF_domain:PIRSF000114,Superfamily_domains:SSF51735		P		A		537/4060				C9K0P5_HUMAN,C9JFA7_HUMAN,B3KWN2_HUMAN			YES	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.Pro53Gln,ENST00000428684,;							LOW	336/1056		GPD1L_HUMAN			Transcript			.	ENSP00000282541		CCDS33729.1			1	
SMG5	0	LGGM	GRCh37	1	156228930	156228930	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	33	4	.	.	ENST00000361813.5:c.2308C>A	p.Arg770Ser	p.R770S	ENST00000361813	NM_015327.2	770	Cgc/Agc	0	1	1	UPI0000050C24	0	NA	ENST00000361813		ENSG00000198952	24644		37	1.795		HGNC	p.R770S		SMG5		SNV							ENST00000361813	protein_coding	getma.org/?cm=var&var=hg19,1,156228930,G,T&fts=all		hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1,Superfamily_domains:SSF48452		R/S		T	low	2453/4559		getma.org/?cm=msa&ty=f&p=SMG5_HUMAN&rb=745&re=856&var=R770S	deleterious(0)				YES	SMG5,missense_variant,p.Arg770Ser,ENST00000361813,NM_015327.2;SMG5,intron_variant,,ENST00000368267,;							MODERATE	2308/3051	R770S	SMG5_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000355261		CCDS1137.1			1	
AIRE	0	LGGM	GRCh37	21	45709661	45709661	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	32	4	.	.	ENST00000291582.5:c.774C>A	p.Ala258=	p.A258=	ENST00000291582	NM_000383.3	258	gcC/gcA	0	1	1	UPI0000030FA6	0		ENST00000291582		ENSG00000160224	360		36			HGNC	p.A258A		AIRE		SNV			1				ENST00000291582	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50864,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF15,SMART_domains:SM00258		A		A		901/2257							YES	AIRE,synonymous_variant,p.=,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,;							LOW	774/1638		AIRE_HUMAN			Transcript			.	ENSP00000291582		CCDS13706.1			1	
POF1B	0	LGGM	GRCh37	X	84569505	84569505	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	21	4	.	.	ENST00000262753.4:c.890A>T	p.Asp297Val	p.D297V	ENST00000262753	NM_024921.3	297	gAc/gTc	0	1	1	UPI0000212116	0	NA	ENST00000262753		ENSG00000124429	13711		25	1.67		HGNC	p.D297V		POF1B		SNV			1				ENST00000373145	protein_coding	getma.org/?cm=var&var=hg19,X,84569505,T,A&fts=all		hmmpanther:PTHR22546		D/V		A	low	1036/3941		getma.org/?cm=msa&ty=f&p=POF1B_HUMAN&rb=1&re=586&var=D297V	deleterious(0)				YES	POF1B,missense_variant,p.Asp297Val,ENST00000262753,NM_024921.3;POF1B,missense_variant,p.Asp297Val,ENST00000373145,;							MODERATE	890/1770	D297V	POF1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262753		CCDS14452.1			1	
GJD2	0	LGGM	GRCh37	15	35045409	35045409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	42	4	.	.	ENST00000290374.4:c.236G>T	p.Trp79Leu	p.W79L	ENST00000290374	NM_020660.2	79	tGg/tTg	0	1	1	UPI00001287E3	0	getma.org/pdb.php?prot=CXD2_HUMAN&from=3&to=110&var=W79L	ENST00000290374		ENSG00000159248	19154		46	3.295		HGNC	p.W79L		GJD2		SNV							ENST00000290374	protein_coding	getma.org/?cm=var&var=hg19,15,35045409,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF00029,Prints_domain:PR00206		W/L		A	medium	713/2889		getma.org/?cm=msa&ty=f&p=CXD2_HUMAN&rb=3&re=110&var=W79L	deleterious(0)				YES	GJD2,missense_variant,p.Trp79Leu,ENST00000290374,NM_020660.2;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;							MODERATE	236/966	W79L	CXD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000290374		CCDS10040.1			1	
KAT6B	0	LGGM	GRCh37	10	76784935	76784935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	81	4	.	.	ENST00000287239.4:c.3592G>T	p.Gly1198Trp	p.G1198W	ENST00000287239	NM_001256468.1	1198	Ggg/Tgg	0	1	1	UPI000013DEA0	0	NA	ENST00000287239		ENSG00000156650	17582		85	1.445		HGNC	p.G906W		KAT6B		SNV			1				ENST00000372724	protein_coding	getma.org/?cm=var&var=hg19,10,76784935,G,T&fts=all		hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615		G/W		T	low	4081/8287		getma.org/?cm=msa&ty=f&p=KAT6B_HUMAN&rb=1001&re=1200&var=G1198W					YES	KAT6B,missense_variant,p.Gly1198Trp,ENST00000287239,NM_001256468.1,NM_012330.3;KAT6B,missense_variant,p.Gly1015Trp,ENST00000372711,;KAT6B,missense_variant,p.Gly906Trp,ENST00000372724,NM_001256469.1;KAT6B,missense_variant,p.Gly906Trp,ENST00000372725,;KAT6B,missense_variant,p.Gly906Trp,ENST00000372714,;RP11-77G23.5,upstream_gene_variant,,ENST00000436608,;RP11-77G23.2,upstream_gene_variant,,ENST00000413431,;KAT6B,non_coding_transcript_exon_variant,,ENST00000490365,;							MODERATE	3592/6222	G1198W	KAT6B_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000287239		CCDS7345.1			1	
IGSF21	0	LGGM	GRCh37	1	18692054	18692054	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	30	4	.	.	ENST00000251296.1:c.878C>A	p.Pro293Gln	p.P293Q	ENST00000251296	NM_032880.4	293	cCg/cAg	0	1	1	UPI000006FCF2	0	NA	ENST00000251296		ENSG00000117154	28246		34	0.805		HGNC	p.P293Q		IGSF21		SNV							ENST00000251296	protein_coding	getma.org/?cm=var&var=hg19,1,18692054,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF442		P/Q		A	low	1261/1943		getma.org/?cm=msa&ty=f&p=IGS21_HUMAN&rb=240&re=342&var=P293Q	deleterious(0.02)				YES	IGSF21,missense_variant,p.Pro293Gln,ENST00000251296,NM_032880.4;IGSF21,missense_variant,p.Pro246Gln,ENST00000412684,;IGSF21,non_coding_transcript_exon_variant,,ENST00000497331,;							MODERATE	878/1404	P293Q	IGS21_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000251296		CCDS184.1			1	
PUS7	0	LGGM	GRCh37	7	105108905	105108905	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	46	4	.	.	ENST00000356362.2:c.1404C>A	p.Pro468=	p.P468=	ENST00000356362	NM_019042.3	468	ccC/ccA	0	1	1	UPI00001D483E	0		ENST00000356362		ENSG00000091127	26033		50			HGNC	p.P444Q		PUS7		SNV							ENST00000481939	protein_coding			Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,PROSITE_profiles:PS50984,hmmpanther:PTHR13326,Superfamily_domains:SSF55120,TIGRFAM_domain:TIGR00094		P		T		1619/3480				A3R6R7_HUMAN			YES	PUS7,synonymous_variant,p.=,ENST00000356362,NM_019042.3;PUS7,synonymous_variant,p.=,ENST00000469408,;PUS7,missense_variant,p.Pro444Gln,ENST00000481939,;PUS7,downstream_gene_variant,,ENST00000478208,;							LOW	1404/1986		PUS7_HUMAN			Transcript			.	ENSP00000348722		CCDS34725.1			1	
GRID2IP	0	LGGM	GRCh37	7	6542701	6542701	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	12	4	.	.	ENST00000457091.2:c.3001G>T	p.Glu1001Ter	p.E1001*	ENST00000457091	NM_001145118.1	1001	Gaa/Taa	0	1	1	UPI0001722D0B	0	NA	ENST00000457091		ENSG00000215045	18464		16	0		HGNC	p.E817X		GRID2IP		SNV							ENST00000435185	protein_coding	getma.org/?cm=var&var=hg19,7,6542701,C,A&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF15,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		E/*		A	NA	3001/3636		NA					YES	GRID2IP,stop_gained,p.Glu1001Ter,ENST00000457091,NM_001145118.1;GRID2IP,stop_gained,p.Glu810Ter,ENST00000452113,;GRID2IP,stop_gained,p.Glu817Ter,ENST00000435185,;							HIGH	3001/3636	E1001*	GRD2I_HUMAN			Transcript			.	ENSP00000397351		CCDS47537.1			1	
ZNF33B	0	LGGM	GRCh37	10	43088911	43088911	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	82	4	.	.	ENST00000359467.3:c.1487C>A	p.Pro496His	p.P496H	ENST00000359467	NM_006955.1	496	cCt/cAt	0	1	1	UPI000007257B	0	getma.org/pdb.php?prot=ZN33B_HUMAN&from=483&to=508&var=P496H	ENST00000359467		ENSG00000196693	13097		86	2.985		HGNC	p.P496H		ZNF33B		SNV							ENST00000359467	protein_coding	getma.org/?cm=var&var=hg19,10,43088911,G,T&fts=all		Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,PROSITE_profiles:PS50157		P/H		T	medium	1602/5958		getma.org/?cm=msa&ty=f&p=ZN33B_HUMAN&rb=463&re=528&var=P496H	deleterious(0)				YES	ZNF33B,missense_variant,p.Pro496His,ENST00000359467,NM_006955.1;ZNF33B,intron_variant,,ENST00000486187,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;							MODERATE	1487/2337	P496H	ZN33B_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000352444		CCDS7198.1			1	
PLA2R1	0	LGGM	GRCh37	2	160869882	160869882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	53	4	.	.	ENST00000283243.7:c.1556G>T	p.Trp519Leu	p.W519L	ENST00000283243	NM_001195641.1	519	tGg/tTg	0	1	1	UPI00001AEA9D	0	NA	ENST00000283243		ENSG00000153246	9042		57	2.74		HGNC	p.W519L		PLA2R1		SNV							ENST00000283243	protein_coding	getma.org/?cm=var&var=hg19,2,160869882,C,A&fts=all		hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		W/L		A	medium	1763/8526		getma.org/?cm=msa&ty=f&p=PLA2R_HUMAN&rb=504&re=538&var=W519L	deleterious(0)				YES	PLA2R1,missense_variant,p.Trp519Leu,ENST00000283243,NM_001195641.1,NM_007366.4;PLA2R1,missense_variant,p.Trp519Leu,ENST00000392771,NM_001007267.2;							MODERATE	1556/4392	W519L	PLA2R_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000283243		CCDS33309.1			1	
METTL16	0	LGGM	GRCh37	17	2376899	2376899	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	42	4	.	.	ENST00000263092.6:c.388C>A	p.Leu130Ile	p.L130I	ENST00000263092	NM_024086.3	130	Ctc/Atc	0	1	1	UPI0000200607	0	getma.org/pdb.php?prot=MET16_HUMAN&from=1&to=291&var=L130I	ENST00000263092		ENSG00000127804	28484		46	0.13		HGNC	p.L130I		METTL16		SNV							ENST00000576155	protein_coding	getma.org/?cm=var&var=hg19,17,2376899,G,T&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF05971,PIRSF_domain:PIRSF037350,hmmpanther:PTHR13393,hmmpanther:PTHR13393:SF0,Superfamily_domains:SSF53335		L/I		T	neutral	516/5711		getma.org/?cm=msa&ty=f&p=MET16_HUMAN&rb=1&re=291&var=L130I	tolerated(0.13)	B7Z3X7_HUMAN			YES	METTL16,missense_variant,p.Leu130Ile,ENST00000263092,NM_024086.3;METTL16,intron_variant,,ENST00000538844,;METTL16,intron_variant,,ENST00000576976,;METTL16,non_coding_transcript_exon_variant,,ENST00000571669,;METTL16,missense_variant,p.Leu130Ile,ENST00000574752,;METTL16,3_prime_UTR_variant,,ENST00000571298,;METTL16,intron_variant,,ENST00000576556,;METTL16,downstream_gene_variant,,ENST00000577148,;							MODERATE	388/1689	L130I	MET16_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000263092		CCDS42232.1			1	
ARHGAP35	0	LGGM	GRCh37	19	47425422	47425422	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	76	4	.	.	ENST00000404338.3:c.3490C>A	p.Arg1164=	p.R1164=	ENST00000404338	NM_004491.4	1164	Cgg/Agg	0	1	1	UPI0000163F71	0		ENST00000404338		ENSG00000160007	4591		80			HGNC	p.R1164R		ARHGAP35		SNV							ENST00000404338	protein_coding			hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26		R		A		3490/8889							YES	ARHGAP35,synonymous_variant,p.=,ENST00000404338,NM_004491.4;							LOW	3490/4500		RHG35_HUMAN			Transcript			.	ENSP00000385720		CCDS46127.1			1	
POLN	0	LGGM	GRCh37	4	2172425	2172425	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	70	4	.	.	ENST00000511885.2:c.1535C>A	p.Pro512Gln	p.P512Q	ENST00000511885		512	cCg/cAg	0	1		UPI0000246FC3	0	getma.org/pdb.php?prot=DPOLN_HUMAN&from=445&to=855&var=P512Q	ENST00000382865		ENSG00000130997	18870		74	1.875		HGNC	p.P512Q		POLN		SNV							ENST00000382865	protein_coding	getma.org/?cm=var&var=hg19,4,2172425,G,T&fts=all		hmmpanther:PTHR10133:SF27,hmmpanther:PTHR10133,Gene3D:1.20.1060.10,Pfam_domain:PF00476,Superfamily_domains:SSF56672		P/Q		T	low	1535/2899		getma.org/?cm=msa&ty=f&p=DPOLN_HUMAN&rb=445&re=855&var=P512Q	tolerated(0.49)					POLN,missense_variant,p.Pro512Gln,ENST00000511885,;POLN,missense_variant,p.Pro512Gln,ENST00000382865,NM_181808.2;POLN,missense_variant,p.Pro146Gln,ENST00000511098,;POLN,non_coding_transcript_exon_variant,,ENST00000515357,;POLN,non_coding_transcript_exon_variant,,ENST00000514858,;							MODERATE	1535/2703	P512Q	DPOLN_HUMAN			Transcript		benign(0.171)	.	ENSP00000372316		CCDS3360.1			1	
CLCNKA	0	LGGM	GRCh37	1	16355698	16355698	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	23	4	.	.	ENST00000331433.4:c.1131C>A	p.Pro377=	p.P377=	ENST00000331433		377	ccC/ccA	0	1	1	UPI0000127993	0		ENST00000331433		ENSG00000186510	2026		27			HGNC	p.P334P	rs765916992	CLCNKA		SNV			1				ENST00000439316	protein_coding			Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78		P		A		1150/2475	4.54E-05						YES	CLCNKA,synonymous_variant,p.=,ENST00000375692,;CLCNKA,synonymous_variant,p.=,ENST00000420078,NM_004070.3,NM_001042704.1,NM_001257139.1;CLCNKA,synonymous_variant,p.=,ENST00000331433,;CLCNKA,synonymous_variant,p.=,ENST00000439316,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;							LOW	1131/2064		CLCKA_HUMAN			Transcript			.	ENSP00000332771	2.47E-05	CCDS167.1			1	
POLR3D	0	LGGM	GRCh37	8	22106745	22106745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	16	4	.	.	ENST00000397802.4:c.844C>A	p.Gln282Lys	p.Q282K	ENST00000397802		282	Cag/Aag	0	1		UPI000006CE69	0	NA	ENST00000306433		ENSG00000168495	1080		20	1.59		HGNC	p.Q282K		POLR3D		SNV							ENST00000306433	protein_coding	getma.org/?cm=var&var=hg19,8,22106745,C,A&fts=all		Pfam_domain:PF05132,hmmpanther:PTHR13408,hmmpanther:PTHR13408:SF2		Q/K		A	low	929/1931		getma.org/?cm=msa&ty=f&p=RPC4_HUMAN&rb=262&re=389&var=Q282K	tolerated(0.53)	E5RHT4_HUMAN,D3DSR2_HUMAN				POLR3D,missense_variant,p.Gln282Lys,ENST00000397802,;POLR3D,missense_variant,p.Gln282Lys,ENST00000306433,NM_001722.2;POLR3D,downstream_gene_variant,,ENST00000519237,;MIR320A,upstream_gene_variant,,ENST00000385302,;POLR3D,non_coding_transcript_exon_variant,,ENST00000517789,;POLR3D,intron_variant,,ENST00000518039,;							MODERATE	844/1197	Q282K	RPC4_HUMAN			Transcript		benign(0.034)	.	ENSP00000303088		CCDS34858.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H062024	H062024N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	11	4	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	15			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
ILK	0	LGGM	GRCh37	11	6630002	6630002	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	50	5	.	.	ENST00000396751.2:c.430C>A	p.Leu144Met	p.L144M	ENST00000396751	NM_001014795.2	144	Ctg/Atg	0	1		UPI0000000DC2	0	getma.org/pdb.php?prot=ILK_HUMAN&from=131&to=192&var=L144M	ENST00000299421		ENSG00000166333	6040		55	1.085		HGNC	p.L144M		ILK		SNV							ENST00000527327	protein_coding	getma.org/?cm=var&var=hg19,11,6630002,C,A&fts=all		PIRSF_domain:PIRSF000654,Gene3D:1.25.40.20,hmmpanther:PTHR23257:SF30,hmmpanther:PTHR23257		L/M		A	low	614/1802		getma.org/?cm=msa&ty=f&p=ILK_HUMAN&rb=131&re=192&var=L144M	tolerated(0.22)	B7Z1I0_HUMAN				ILK,missense_variant,p.Leu144Met,ENST00000396751,NM_001014795.2;ILK,missense_variant,p.Leu144Met,ENST00000299421,NM_004517.3,NM_001014794.2;ILK,missense_variant,p.Leu144Met,ENST00000420936,;ILK,missense_variant,p.Leu10Met,ENST00000537806,NM_001278442.1;ILK,intron_variant,,ENST00000528995,NM_001278441.1;TPP1,downstream_gene_variant,,ENST00000533371,;TPP1,downstream_gene_variant,,ENST00000299427,NM_000391.3;TAF10,downstream_gene_variant,,ENST00000299424,NM_006284.3;RP11-732A19.2,intron_variant,,ENST00000527398,;RP11-732A19.8,upstream_gene_variant,,ENST00000527191,;ILK,non_coding_transcript_exon_variant,,ENST00000528784,;ILK,non_coding_transcript_exon_variant,,ENST00000534706,;ILK,intron_variant,,ENST00000526318,;ILK,upstream_gene_variant,,ENST00000526711,;ILK,downstream_gene_variant,,ENST00000534565,;ILK,downstream_gene_variant,,ENST00000524735,;ILK,upstream_gene_variant,,ENST00000530016,;TAF10,downstream_gene_variant,,ENST00000531760,;TAF10,downstream_gene_variant,,ENST00000527248,;ILK,missense_variant,p.Leu144Met,ENST00000527327,;ILK,missense_variant,p.Leu144Met,ENST00000527394,;ILK,3_prime_UTR_variant,,ENST00000532063,;ILK,3_prime_UTR_variant,,ENST00000527121,;ILK,3_prime_UTR_variant,,ENST00000526114,;TAF10,non_coding_transcript_exon_variant,,ENST00000526743,;TAF10,downstream_gene_variant,,ENST00000532344,;							MODERATE	430/1359	L144M	ILK_HUMAN			Transcript		benign(0.224)	.	ENSP00000299421		CCDS7768.1			1	
MMRN1	0	LGGM	GRCh37	4	90816241	90816241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	68	5	.	.	ENST00000394980.1:c.119C>A	p.Pro40His	p.P40H	ENST00000394980		40	cCt/cAt	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		73	0.345		HGNC	p.P40H	rs751349322	MMRN1	6.06E-05	SNV							ENST00000264790	protein_coding	getma.org/?cm=var&var=hg19,4,90816241,C,A&fts=all				P/H		A	neutral	190/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=1&re=199&var=P40H	deleterious_low_confidence(0)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Pro40His,ENST00000394980,;MMRN1,missense_variant,p.Pro40His,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Pro40His,ENST00000394981,;							MODERATE	119/3687	P40H	MMRN1_HUMAN			Transcript		benign(0.109)	.	ENSP00000264790	8.24E-06	CCDS3635.1			1	
GLDN	0	LGGM	GRCh37	15	51696898	51696898	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	133	5	.	.	ENST00000335449.6:c.1603G>C	p.Gly535Arg	p.G535R	ENST00000335449	NM_181789.2	535	Ggc/Cgc	0	1	1	UPI000015FAA3	0	NA	ENST00000335449		ENSG00000186417	29514		138	2.63		HGNC	p.G535R		GLDN		SNV							ENST00000335449	protein_coding	getma.org/?cm=var&var=hg19,15,51696898,G,C&fts=all		PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF5,Pfam_domain:PF02191,SMART_domains:SM00284		G/R		C	medium	1659/4971		getma.org/?cm=msa&ty=f&p=GLDN_HUMAN&rb=303&re=546&var=G535R	deleterious(0)				YES	GLDN,missense_variant,p.Gly535Arg,ENST00000335449,NM_181789.2;GLDN,missense_variant,p.Gly411Arg,ENST00000396399,;GLDN,downstream_gene_variant,,ENST00000558426,;							MODERATE	1603/1656	G535R	GLDN_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000335196		CCDS10140.2			1	
MYO9B	0	LGGM	GRCh37	19	17213002	17213002	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	98	5	.	.	ENST00000595618.1:c.475G>T	p.Glu159Ter	p.E159*	ENST00000595618	NM_001130065.1	159	Gag/Tag	0	1		UPI0002A47676	0	NA	ENST00000594824		ENSG00000099331	7609		103	0		HGNC	p.E159X		MYO9B		SNV			1				ENST00000595618	protein_coding	getma.org/?cm=var&var=hg19,19,17213002,G,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00242,Superfamily_domains:SSF52540		E/*		T	NA	622/7595		NA		M0R0P8_HUMAN				MYO9B,stop_gained,p.Glu159Ter,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,stop_gained,p.Glu159Ter,ENST00000594824,;MYO9B,stop_gained,p.Glu159Ter,ENST00000397274,;MYO9B,stop_gained,p.Glu159Ter,ENST00000595641,;CTD-2528A14.5,upstream_gene_variant,,ENST00000597045,;MYO9B,non_coding_transcript_exon_variant,,ENST00000593411,;							HIGH	475/6474	E159*				Transcript			.	ENSP00000471367					1	
MXRA5	0	LGGM	GRCh37	X	3241889	3241889	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	8	5	.	.	ENST00000217939.6:c.1837C>T	p.Leu613Phe	p.L613F	ENST00000217939	NM_015419.3	613	Ctt/Ttt	0	1	1	UPI000013C73B	0	getma.org/pdb.php?prot=MXRA5_HUMAN&from=580&to=668&var=L613F	ENST00000217939		ENSG00000101825	7539		13	1.86		HGNC	p.L613F	COSM3561200,COSM3561201	MXRA5		SNV						1,1	ENST00000381114	protein_coding	getma.org/?cm=var&var=hg19,X,3241889,G,A&fts=all		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		L/F		A	low	1992/9793		getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=580&re=668&var=L613F	deleterious(0.03)				YES	MXRA5,missense_variant,p.Leu613Phe,ENST00000217939,NM_015419.3;					1,1		MODERATE	1837/8487	L613F	MXRA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000217939		CCDS14124.1			1	
PTPDC1	0	LGGM	GRCh37	9	96860056	96860056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	70	5	.	.	ENST00000288976.3:c.1202C>A	p.Pro401His	p.P401H	ENST00000288976	NM_001253829.1	401	cCc/cAc	0	1		UPI000019097B	0	NA	ENST00000375360		ENSG00000158079	30184		75	2.24		HGNC	p.P349H		PTPDC1		SNV							ENST00000375360	protein_coding	getma.org/?cm=var&var=hg19,9,96860056,C,A&fts=all		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF25		P/H		A	medium	1386/4517		getma.org/?cm=msa&ty=f&p=PTPC1_HUMAN&rb=244&re=443&var=P349H	tolerated(0.07)					PTPDC1,missense_variant,p.Pro349His,ENST00000375360,NM_001253830.1,NM_177995.2;PTPDC1,missense_variant,p.Pro401His,ENST00000288976,NM_001253829.1,NM_152422.4;PTPDC1,upstream_gene_variant,,ENST00000467049,;							MODERATE	1046/2265	P349H	PTPC1_HUMAN			Transcript		possibly_damaging(0.687)	.	ENSP00000364509		CCDS6707.1			1	
NSUN7	0	LGGM	GRCh37	4	40778165	40778165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	82	5	.	.	ENST00000381782.2:c.925C>A	p.His309Asn	p.H309N	ENST00000381782	NM_024677.4	309	Cac/Aac	0	1	1	UPI000066D9E8	0	NA	ENST00000381782		ENSG00000179299	25857		87	2.045		HGNC	p.H309N		NSUN7		SNV							ENST00000381782	protein_coding	getma.org/?cm=var&var=hg19,4,40778165,C,A&fts=all		PROSITE_profiles:PS51686,hmmpanther:PTHR14663:SF2,hmmpanther:PTHR14663,Superfamily_domains:SSF53335		H/N		A	medium	1420/3698		getma.org/?cm=msa&ty=f&p=NSUN7_HUMAN&rb=201&re=309&var=H309N	deleterious(0.01)	B4E1Z6_HUMAN			YES	NSUN7,missense_variant,p.His309Asn,ENST00000381782,NM_024677.4;NSUN7,missense_variant,p.His309Asn,ENST00000316607,;NSUN7,non_coding_transcript_exon_variant,,ENST00000463952,;NSUN7,non_coding_transcript_exon_variant,,ENST00000423784,;NSUN7,non_coding_transcript_exon_variant,,ENST00000469033,;NSUN7,downstream_gene_variant,,ENST00000473399,;							MODERATE	925/2157	H309N	NSUN7_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000371201		CCDS3461.2			1	
OSBPL2	0	LGGM	GRCh37	20	60856172	60856172	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	94	5	.	.	ENST00000313733.3:c.733G>T	p.Gly245Trp	p.G245W	ENST00000313733	NM_144498.2	245	Ggg/Tgg	0	1	1	UPI0000130E96	0	getma.org/pdb.php?prot=OSBL2_HUMAN&from=75&to=471&var=G245W	ENST00000313733		ENSG00000130703	15761		99	4.345		HGNC	p.G233W		OSBPL2		SNV			1				ENST00000358053	protein_coding	getma.org/?cm=var&var=hg19,20,60856172,G,T&fts=all		hmmpanther:PTHR10972:SF54,hmmpanther:PTHR10972,Pfam_domain:PF01237,Superfamily_domains:0051579		G/W		T	high	935/3970		getma.org/?cm=msa&ty=f&p=OSBL2_HUMAN&rb=75&re=471&var=G245W	deleterious(0)	H0Y7X4_HUMAN			YES	OSBPL2,missense_variant,p.Gly245Trp,ENST00000313733,NM_144498.2;OSBPL2,missense_variant,p.Gly233Trp,ENST00000358053,NM_014835.3;OSBPL2,missense_variant,p.Gly153Trp,ENST00000439951,NM_001278649.1;OSBPL2,downstream_gene_variant,,ENST00000448156,;							MODERATE	733/1443	G245W	OSBL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000316649		CCDS13495.1			1	
ZKSCAN1	0	LGGM	GRCh37	7	99631527	99631527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	89	5	.	.	ENST00000324306.6:c.1399G>T	p.Gly467Trp	p.G467W	ENST00000324306	NM_003439.1	467	Ggg/Tgg	0	1	1	UPI00000726DD	0	getma.org/pdb.php?prot=ZKSC1_HUMAN&from=447&to=472&var=G467W	ENST00000324306		ENSG00000106261	13101		94	2.975		HGNC	p.G467W		ZKSCAN1		SNV							ENST00000324306	protein_coding	getma.org/?cm=var&var=hg19,7,99631527,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF63,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	medium	1633/9418		getma.org/?cm=msa&ty=f&p=ZKSC1_HUMAN&rb=427&re=492&var=G467W	deleterious(0)	E9PC66_HUMAN,C9JRM9_HUMAN,B3KRF7_HUMAN			YES	ZKSCAN1,missense_variant,p.Gly467Trp,ENST00000324306,NM_003439.1,NM_001287055.1;ZKSCAN1,missense_variant,p.Gly254Trp,ENST00000535170,;ZKSCAN1,missense_variant,p.Gly431Trp,ENST00000426572,NM_001287054.1;							MODERATE	1399/1692	G467W	ZKSC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000323148		CCDS34698.1			1	
ZNF17	0	LGGM	GRCh37	19	57932370	57932370	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	103	5	.	.	ENST00000601808.1:c.1510G>T	p.Gly504Trp	p.G504W	ENST00000601808	NM_006959.2	504	Ggg/Tgg	0	1	1	UPI00001D8198	0	getma.org/pdb.php?prot=ZNF17_HUMAN&from=484&to=509&var=G504W	ENST00000601808		ENSG00000186272	12958		108	3.555		HGNC	p.G506W		ZNF17		SNV							ENST00000307658	protein_coding	getma.org/?cm=var&var=hg19,19,57932370,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	high	1723/2524		getma.org/?cm=msa&ty=f&p=ZNF17_HUMAN&rb=464&re=529&var=G504W	deleterious(0)				YES	ZNF17,missense_variant,p.Gly506Trp,ENST00000307658,;ZNF17,missense_variant,p.Gly504Trp,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,;							MODERATE	1510/1989	G504W	ZNF17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000471905		CCDS42636.1			1	
AXIN1	0	LGGM	GRCh37	16	339485	339485	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	15	8	.	.	ENST00000262320.3:c.2417C>T	p.Thr806Ile	p.T806I	ENST00000262320	NM_003502.3	806	aCc/aTc	0	1	1	UPI000012669E	0	getma.org/pdb.php?prot=AXIN1_HUMAN&from=780&to=862&var=T806I	ENST00000262320		ENSG00000103126	903		23	3.155		HGNC	p.T770I		AXIN1		SNV			1				ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,339485,G,A&fts=all		PROSITE_profiles:PS50841,Pfam_domain:PF00778,SMART_domains:SM00021,Superfamily_domains:SSF54236		T/I		A	medium	2789/3643		getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=780&re=862&var=T806I	deleterious(0)				YES	AXIN1,missense_variant,p.Thr806Ile,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Thr770Ile,ENST00000354866,NM_181050.2;AXIN1,missense_variant,p.Thr58Ile,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,;							MODERATE	2417/2589	T806I	AXIN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262320		CCDS10405.1			1	
CKAP2L	0	LGGM	GRCh37	2	113504153	113504153	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	73	6	.	.	ENST00000302450.6:c.1603-1G>T		p.X535_splice	ENST00000302450	NM_152515.3			0	1	1	UPI0000207D64	0		ENST00000302450		ENSG00000169607	26877		79			HGNC	-		CKAP2L		SNV			1				ENST00000541405	protein_coding							A		-/4533				F5H0M5_HUMAN			YES	CKAP2L,splice_acceptor_variant,,ENST00000541405,;CKAP2L,splice_acceptor_variant,,ENST00000302450,NM_152515.3;NT5DC4,downstream_gene_variant,,ENST00000327581,;CKAP2L,splice_acceptor_variant,,ENST00000435431,;CKAP2L,splice_acceptor_variant,,ENST00000474331,;							HIGH	1603/2238		CKP2L_HUMAN			Transcript			.	ENSP00000305204		CCDS2100.1			1	
STXBP1	0	LGGM	GRCh37	9	130435499	130435499	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	48	6	.	.	ENST00000373302.3:c.1069C>T	p.His357Tyr	p.H357Y	ENST00000373302	NM_003165.3	357	Cat/Tat	0	1		UPI0000000ED9	0	getma.org/pdb.php?prot=STXB1_HUMAN&from=28&to=582&var=H357Y	ENST00000373299		ENSG00000136854	11444		54	1.645		HGNC	p.H357Y		STXBP1		SNV			1				ENST00000373299	protein_coding	getma.org/?cm=var&var=hg19,9,130435499,C,T&fts=all		hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Gene3D:3.90.830.10,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815		H/Y		T	low	1184/3759		getma.org/?cm=msa&ty=f&p=STXB1_HUMAN&rb=28&re=582&var=H357Y	tolerated(0.34)	Q68CM6_HUMAN,Q59GC9_HUMAN				STXBP1,missense_variant,p.His357Tyr,ENST00000373302,NM_003165.3;STXBP1,missense_variant,p.His357Tyr,ENST00000373299,NM_001032221.3;STXBP1,non_coding_transcript_exon_variant,,ENST00000481942,;							MODERATE	1069/1785	H357Y	STXB1_HUMAN			Transcript		possibly_damaging(0.451)	.	ENSP00000362396		CCDS35146.1			1	
MKL1	0	LGGM	GRCh37	22	40859257	40859257	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	174	6	.	.	ENST00000355630.3:c.-26G>T		*9*	ENST00000355630	NM_020831.3			0	1	1	UPI000007311D	0		ENST00000355630		ENSG00000196588	14334		180			HGNC	p.R19L		MKL1		SNV			1				ENST00000422851	protein_coding							A		566/4496				Q29R68_HUMAN			YES	MKL1,missense_variant,p.Arg19Leu,ENST00000422851,;MKL1,5_prime_UTR_variant,,ENST00000396617,NM_001282662.1;MKL1,5_prime_UTR_variant,,ENST00000355630,NM_020831.3;MKL1,5_prime_UTR_variant,,ENST00000402042,NM_001282661.1;MKL1,5_prime_UTR_variant,,ENST00000407029,NM_001282660.1;MKL1,5_prime_UTR_variant,,ENST00000402630,;MKL1,non_coding_transcript_exon_variant,,ENST00000463769,;							MODIFIER	-/2796		MKL1_HUMAN			Transcript			.	ENSP00000347847		CCDS14003.1			1	
BMP4	0	LGGM	GRCh37	14	54418691	54418691	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	35	6	.	.	ENST00000245451.4:c.250C>A	p.Arg84=	p.R84=	ENST00000245451	NM_001202.3	84	Cgg/Agg	0	1	1	UPI000000CC31	0		ENST00000245451		ENSG00000125378	1071		41			HGNC	p.R84R		BMP4		SNV			1				ENST00000417573	protein_coding			Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF49		R		T		644/1917				U3MVU6_HUMAN,Q53XC5_HUMAN,H0YM53_HUMAN,H0YLW3_HUMAN			YES	BMP4,synonymous_variant,p.=,ENST00000245451,NM_001202.3;BMP4,synonymous_variant,p.=,ENST00000417573,NM_130851.2;BMP4,synonymous_variant,p.=,ENST00000559087,NM_130850.2;BMP4,synonymous_variant,p.=,ENST00000558984,;BMP4,synonymous_variant,p.=,ENST00000559501,;BMP4,synonymous_variant,p.=,ENST00000559642,;BMP4,synonymous_variant,p.=,ENST00000558961,;BMP4,upstream_gene_variant,,ENST00000609748,;MIR5580,upstream_gene_variant,,ENST00000580850,;BMP4,downstream_gene_variant,,ENST00000558489,;							LOW	250/1227		BMP4_HUMAN			Transcript			.	ENSP00000245451		CCDS9715.1			1	
OR2T27	0	LGGM	GRCh37	1	248813998	248813998	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	55	6	.	.	ENST00000344889.3:c.188T>A	p.Leu63His	p.L63H	ENST00000344889	NM_001001824.1	63	cTc/cAc	0	1	1	UPI000004F239	0	getma.org/pdb.php?prot=OR2T7_HUMAN&from=1&to=129&var=L54H	ENST00000344889		ENSG00000187701	31252		61	4.59		HGNC	p.L63H		OR2T27		SNV							ENST00000344889	protein_coding	getma.org/?cm=var&var=hg19,1,248813998,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/H		T	high	188/954		getma.org/?cm=msa&ty=f&p=OR2T7_HUMAN&rb=1&re=129&var=L54H	deleterious(0)				YES	OR2T27,missense_variant,p.Leu63His,ENST00000344889,NM_001001824.1;							MODERATE	188/954	L54H	O2T27_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000342008		CCDS31124.1			1	
GREB1	0	LGGM	GRCh37	2	11773066	11773066	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	24	7	.	.	ENST00000381486.2:c.4868A>T	p.Glu1623Val	p.E1623V	ENST00000381486	NM_014668.3	1623	gAg/gTg	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		31	2.22		HGNC	p.E621V		GREB1		SNV							ENST00000396123	protein_coding	getma.org/?cm=var&var=hg19,2,11773066,A,T&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13,Low_complexity_(Seg):seg		E/V		T	medium	5130/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=E1623V	deleterious(0)					GREB1,missense_variant,p.Glu1623Val,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Glu1623Val,ENST00000234142,;GREB1,missense_variant,p.Glu621Val,ENST00000396123,;							MODERATE	4868/5850	E1623V	GREB1_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000234142		CCDS42655.1			1	
MFGE8	0	LGGM	GRCh37	15	89449986	89449986	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	22	8	.	.	ENST00000268150.8:c.411G>C	p.Trp137Cys	p.W137C	ENST00000268150	NM_005928.2	137	tgG/tgC	0	1	1	UPI000013D7A3	0	getma.org/pdb.php?prot=MFGM_HUMAN&from=85&to=222&var=W137C	ENST00000268150		ENSG00000140545	7036		30	1.445		HGNC	p.W137C		MFGE8		SNV							ENST00000558029	protein_coding	getma.org/?cm=var&var=hg19,15,89449986,C,G&fts=all		Gene3D:2.60.120.260,Pfam_domain:PF00754,PROSITE_patterns:PS01285,PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF303,SMART_domains:SM00231,Superfamily_domains:SSF49785		W/C		G	low	503/1937		getma.org/?cm=msa&ty=f&p=MFGM_HUMAN&rb=85&re=222&var=W137C	deleterious(0.02)				YES	MFGE8,missense_variant,p.Trp129Cys,ENST00000539437,;MFGE8,missense_variant,p.Trp137Cys,ENST00000268150,NM_005928.2;MFGE8,missense_variant,p.Trp137Cys,ENST00000268151,NM_001114614.1;MFGE8,missense_variant,p.Trp137Cys,ENST00000566497,;MFGE8,missense_variant,p.Trp93Cys,ENST00000542878,;MFGE8,missense_variant,p.Trp137Cys,ENST00000558029,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559997,;MFGE8,upstream_gene_variant,,ENST00000560553,;MFGE8,3_prime_UTR_variant,,ENST00000558018,;MFGE8,non_coding_transcript_exon_variant,,ENST00000558352,;MFGE8,non_coding_transcript_exon_variant,,ENST00000559770,;MFGE8,upstream_gene_variant,,ENST00000560937,;MFGE8,upstream_gene_variant,,ENST00000559259,;MFGE8,downstream_gene_variant,,ENST00000558773,;MFGE8,downstream_gene_variant,,ENST00000557944,;MFGE8,downstream_gene_variant,,ENST00000559143,;							MODERATE	411/1164	W137C	MFGM_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000268150		CCDS10347.1			1	
SHROOM3	0	LGGM	GRCh37	4	77660275	77660275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	26	8	.	.	ENST00000296043.6:c.949G>T	p.Val317Phe	p.V317F	ENST00000296043	NM_020859.3	317	Gtc/Ttc	0	1	1	UPI0000E5AC1C	0	NA	ENST00000296043		ENSG00000138771	30422		34	2.075		HGNC	p.V317F		SHROOM3		SNV			1				ENST00000296043	protein_coding	getma.org/?cm=var&var=hg19,4,77660275,G,T&fts=all		hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012		V/F		T	medium	1902/11020		getma.org/?cm=msa&ty=f&p=SHRM3_HUMAN&rb=122&re=865&var=V317F	deleterious(0)				YES	SHROOM3,missense_variant,p.Val317Phe,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,;							MODERATE	949/5991	V317F	SHRM3_HUMAN			Transcript		possibly_damaging(0.66)	.	ENSP00000296043		CCDS3579.2			1	
MLIP	0	LGGM	GRCh37	6	54034338	54034338	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	64	8	.	.	ENST00000274897.5:c.907C>A	p.Leu303Ile	p.L303I	ENST00000274897	NM_138569.2	303	Ctt/Att	0	1	1	UPI000013DA33	0	NA	ENST00000274897		ENSG00000146147	21355		72	1.59		HGNC	p.L827I		MLIP		SNV							ENST00000514921	protein_coding	getma.org/?cm=var&var=hg19,6,54034338,C,A&fts=all		Pfam_domain:PF15274,hmmpanther:PTHR31514,hmmpanther:PTHR31514:SF1		L/I		A	low	1020/1815		getma.org/?cm=msa&ty=f&p=MLIP_HUMAN&rb=201&re=400&var=L303I	deleterious(0.02)				YES	MLIP,missense_variant,p.Leu827Ile,ENST00000514921,NM_001281746.1;MLIP,missense_variant,p.Leu838Ile,ENST00000502396,NM_001281747.1;MLIP,missense_variant,p.Leu303Ile,ENST00000274897,NM_138569.2;MLIP,missense_variant,p.Leu199Ile,ENST00000370877,;MLIP,missense_variant,p.Leu147Ile,ENST00000370876,;MLIP,missense_variant,p.Leu203Ile,ENST00000358276,;MLIP,missense_variant,p.Leu157Ile,ENST00000509997,;MLIP,missense_variant,p.Leu232Ile,ENST00000514433,;MLIP,missense_variant,p.Leu137Ile,ENST00000447836,;MLIP,non_coding_transcript_exon_variant,,ENST00000511744,;							MODERATE	907/1377	L303I	MLIP_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000274897		CCDS4954.1			1	
TBCE	0	LGGM	GRCh37	1	235577898	235577898	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	81	9	.	.	ENST00000366601.3:c.336G>T	p.Glu112Asp	p.E112D	ENST00000366601		112	gaG/gaT	0	1	1	UPI000006F791	0	getma.org/pdb.php?prot=TBCE_HUMAN&from=77&to=276&var=E112D	ENST00000366601		ENSG00000116957	11582		90	2.61		HGNC	p.E112D		TBCE		SNV			1				ENST00000366601	protein_coding	getma.org/?cm=var&var=hg19,1,235577898,G,T&fts=all		hmmpanther:PTHR15140,hmmpanther:PTHR15140:SF6,Superfamily_domains:SSF52047,Superfamily_domains:SSF74924		E/D		T	medium	512/1966		getma.org/?cm=msa&ty=f&p=TBCE_HUMAN&rb=77&re=276&var=E112D	deleterious(0.04)				YES	TBCE,missense_variant,p.Glu112Asp,ENST00000543662,NM_001287801.1;TBCE,missense_variant,p.Glu112Asp,ENST00000366601,;TBCE,missense_variant,p.Glu112Asp,ENST00000406207,NM_001079515.1,NM_003193.3;TBCE-AS1,downstream_gene_variant,,ENST00000430613,;TBCE,non_coding_transcript_exon_variant,,ENST00000472011,;TBCE,non_coding_transcript_exon_variant,,ENST00000482230,;TBCE,upstream_gene_variant,,ENST00000461651,;							MODERATE	336/1584	E112D	TBCE_HUMAN			Transcript		benign(0.191)	.	ENSP00000355560		CCDS1605.1			1	
AQR	0	LGGM	GRCh37	15	35189142	35189142	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	20	9	.	.	ENST00000156471.5:c.2416C>G	p.Gln806Glu	p.Q806E	ENST00000156471	NM_014691.2	806	Cag/Gag	0	1	1	UPI00001C1F85	0	getma.org/pdb.php?prot=AQR_HUMAN&from=801&to=1107&var=Q806E	ENST00000156471		ENSG00000021776	29513		29	4.365		HGNC	p.Q806E		AQR		SNV							ENST00000156471	protein_coding	getma.org/?cm=var&var=hg19,15,35189142,G,C&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,Pfam_domain:PF13086,Gene3D:3.40.50.300,PIRSF_domain:PIRSF038901,Superfamily_domains:SSF52540		Q/E		C	high	2642/5945		getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=801&re=1107&var=Q806E	deleterious(0.01)				YES	AQR,missense_variant,p.Gln806Glu,ENST00000156471,NM_014691.2;AQR,3_prime_UTR_variant,,ENST00000543879,;							MODERATE	2416/4458	Q806E	AQR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000156471		CCDS42013.1			1	
HOXB8	0	LGGM	GRCh37	17	46690835	46690835	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	20	10	.	.	ENST00000239144.4:c.461G>A	p.Ser154Asn	p.S154N	ENST00000239144	NM_024016.3	154	aGc/aAc	0	1	1	UPI000012CF63	0	getma.org/pdb.php?prot=HXB8_HUMAN&from=147&to=203&var=S154N	ENST00000239144		ENSG00000120068	5119		30	1.36		HGNC	p.S153N		HOXB8		SNV							ENST00000576562	protein_coding	getma.org/?cm=var&var=hg19,17,46690835,C,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF46,SMART_domains:SM00389,Superfamily_domains:SSF46689		S/N		T	low	696/1823		getma.org/?cm=msa&ty=f&p=HXB8_HUMAN&rb=147&re=203&var=S154N	deleterious(0)	I3L221_HUMAN			YES	HOXB8,missense_variant,p.Ser154Asn,ENST00000239144,NM_024016.3;HOXB8,missense_variant,p.Ser153Asn,ENST00000576562,;HOXB8,missense_variant,p.Ser3Asn,ENST00000498634,;HOXB7,upstream_gene_variant,,ENST00000239165,NM_004502.3;HOXB8,downstream_gene_variant,,ENST00000468443,;HOXB7,intron_variant,,ENST00000567101,;							MODERATE	461/732	S154N	HXB8_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000239144		CCDS11533.1			1	
DICER1	0	LGGM	GRCh37	14	95557423	95557423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	94	10	.	.	ENST00000343455.3:c.5551C>T	p.Arg1851Cys	p.R1851C	ENST00000343455	NM_177438.2	1851	Cgt/Tgt	0	1		UPI0000168662	0		ENST00000343455		ENSG00000100697	17098		104			HGNC	p.R749C	COSM699755	DICER1		SNV			1			1	ENST00000556045	protein_coding			PROSITE_profiles:PS50137,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3,SMART_domains:SM00358,Superfamily_domains:SSF54768		R/C		A		5789/10277			deleterious(0)	Q5D0K5_HUMAN,B3KMJ0_HUMAN				DICER1,missense_variant,p.Arg1851Cys,ENST00000526495,;DICER1,missense_variant,p.Arg1851Cys,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Arg1851Cys,ENST00000393063,NM_030621.3;DICER1,missense_variant,p.Arg1851Cys,ENST00000527414,NM_001271282.1;DICER1,missense_variant,p.Arg749Cys,ENST00000556045,;DICER1,synonymous_variant,p.=,ENST00000541352,NM_001195573.1;DICER1,downstream_gene_variant,,ENST00000532939,;DICER1,non_coding_transcript_exon_variant,,ENST00000527416,;DICER1,non_coding_transcript_exon_variant,,ENST00000527554,;					1		MODERATE	5551/5769		DICER_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000343745		CCDS9931.1			1	
AAK1	0	LGGM	GRCh37	2	69741877	69741877	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	11	.	.	ENST00000409085.4:c.1502A>C	p.Gln501Pro	p.Q501P	ENST00000409085	NM_014911.3	501	cAg/cCg	0	1	1	UPI0001881663	0	NA	ENST00000409085		ENSG00000115977	19679		30	0.695		HGNC	p.Q501P		AAK1		SNV							ENST00000409068	protein_coding	getma.org/?cm=var&var=hg19,2,69741877,T,G&fts=all		hmmpanther:PTHR22967,hmmpanther:PTHR22967:SF9,Low_complexity_(Seg):seg		Q/P		G	neutral	1879/11345		getma.org/?cm=msa&ty=f&p=AAK1_HUMAN&rb=361&re=959&var=Q501P	tolerated(0.26)				YES	AAK1,missense_variant,p.Gln501Pro,ENST00000409085,NM_014911.3;AAK1,missense_variant,p.Gln501Pro,ENST00000406297,;AAK1,missense_variant,p.Gln501Pro,ENST00000409068,;RN7SL604P,upstream_gene_variant,,ENST00000492589,;							MODERATE	1502/2886	Q501P	AAK1_HUMAN			Transcript		unknown(0)	.	ENSP00000386456		CCDS1893.2			1	
ITIH6	0	LGGM	GRCh37	X	54783825	54783825	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	12	11	.	.	ENST00000218436.6:c.2682G>T	p.Arg894Ser	p.R894S	ENST00000218436	NM_198510.2	894	agG/agT	0	1	1	UPI00000540C8	0	NA	ENST00000218436		ENSG00000102313	28907		23	0.55		HGNC	p.R894S		ITIH6		SNV							ENST00000218436	protein_coding	getma.org/?cm=var&var=hg19,X,54783825,C,A&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10,Low_complexity_(Seg):seg		R/S		A	neutral	2712/4968		getma.org/?cm=msa&ty=f&p=ITIH6_HUMAN&rb=801&re=1000&var=R894S	tolerated(0.2)				YES	ITIH6,missense_variant,p.Arg894Ser,ENST00000218436,NM_198510.2;							MODERATE	2682/3942	R894S	ITIH6_HUMAN			Transcript		benign(0.073)	.	ENSP00000218436		CCDS14361.1			1	
EBF2	0	LGGM	GRCh37	8	25747367	25747367	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	19	11	.	.	ENST00000520164.1:c.652G>A	p.Val218Met	p.V218M	ENST00000520164	NM_022659.3	218	Gtg/Atg	0	1	1	UPI0000DD7EC9	0	getma.org/pdb.php?prot=COE2_HUMAN&from=201&to=252&var=V218M	ENST00000520164		ENSG00000221818	19090		30	2.425		HGNC	p.V218M		EBF2		SNV							ENST00000520164	protein_coding	getma.org/?cm=var&var=hg19,8,25747367,C,T&fts=all		hmmpanther:PTHR10747		V/M		T	medium	1190/5145		getma.org/?cm=msa&ty=f&p=COE2_HUMAN&rb=201&re=252&var=V218M	deleterious(0.01)	B7Z934_HUMAN,B2RNT0_HUMAN			YES	EBF2,missense_variant,p.Val218Met,ENST00000520164,NM_022659.3;EBF2,missense_variant,p.Val70Met,ENST00000408929,;EBF2,upstream_gene_variant,,ENST00000535548,;							MODERATE	652/1728	V218M	COE2_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000430241		CCDS43726.1			1	
LRBA	0	LGGM	GRCh37	4	151821338	151821338	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	53	12	.	.	ENST00000357115.3:c.1787C>T	p.Thr596Met	p.T596M	ENST00000357115	NM_006726.4	596	aCg/aTg	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		65	2.215		HGNC	p.T596M	rs779175495	LRBA	0.000122	SNV			1				ENST00000357115	protein_coding	getma.org/?cm=var&var=hg19,4,151821338,G,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64		T/M		A	medium	2031/9899	6.02E-05	getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=578&re=777&var=T596M	deleterious(0)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Thr596Met,ENST00000535741,;LRBA,missense_variant,p.Thr596Met,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Thr596Met,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Thr596Met,ENST00000507224,;							MODERATE	1787/8592	T596M	LRBA_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000349629	4.94E-05	CCDS3773.1			1	
KIF20B	0	LGGM	GRCh37	10	91520299	91520299	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	52	12	.	.	ENST00000260753.4:c.4577A>G	p.Asp1526Gly	p.D1526G	ENST00000260753	NM_016195.2	1526	gAt/gGt	0	1		UPI000013D104	0	NA	ENST00000371728		ENSG00000138182	7212		64	1.78		HGNC	p.D1596G	rs767407693	KIF20B		SNV							ENST00000416354	protein_coding	getma.org/?cm=var&var=hg19,10,91520299,A,G&fts=all		hmmpanther:PTHR23165		D/G		G	low	4762/6419	1.51E-05	getma.org/?cm=msa&ty=f&p=KI20B_HUMAN&rb=1460&re=1659&var=D1566G	tolerated(0.06)					KIF20B,missense_variant,p.Asp1596Gly,ENST00000416354,;KIF20B,missense_variant,p.Asp1566Gly,ENST00000371728,NM_001284259.1;KIF20B,missense_variant,p.Asp1526Gly,ENST00000260753,NM_016195.2;KIF20B,missense_variant,p.Asp1566Gly,ENST00000394289,;KIF20B,non_coding_transcript_exon_variant,,ENST00000478929,;							MODERATE	4697/5463	D1566G	KI20B_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000360793	8.24E-06	CCDS60590.1			1	
ALDOB	0	LGGM	GRCh37	9	104193114	104193114	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	13	12	.	.	ENST00000374855.4:c.56T>C	p.Ile19Thr	p.I19T	ENST00000374855	NM_000035.3	19	aTt/aCt	0	1	1	UPI000016A4A9	0	getma.org/pdb.php?prot=ALDOB_HUMAN&from=15&to=364&var=I19T	ENST00000374855		ENSG00000136872	417		25	0.635		HGNC	p.I19T		ALDOB		SNV			1				ENST00000374855	protein_coding	getma.org/?cm=var&var=hg19,9,104193114,A,G&fts=all		Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2		I/T		G	neutral	181/2451		getma.org/?cm=msa&ty=f&p=ALDOB_HUMAN&rb=15&re=364&var=I19T	tolerated(0.51)				YES	ALDOB,missense_variant,p.Ile19Thr,ENST00000374855,NM_000035.3;ALDOB,upstream_gene_variant,,ENST00000468981,;							MODERATE	56/1095	I19T	ALDOB_HUMAN			Transcript		benign(0.022)	.	ENSP00000363988		CCDS6756.1			1	
GLI3	0	LGGM	GRCh37	7	42064909	42064909	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	40	13	.	.	ENST00000395925.3:c.1310T>C	p.Ile437Thr	p.I437T	ENST00000395925	NM_000168.5	437	aTc/aCc	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		53	1.1		HGNC	p.I437T	rs374213542	GLI3		SNV	G:0.0005		1	0.000288			ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42064909,A,G&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		I/T	G:0	G	low	1395/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=120&re=469&var=I437T	tolerated(0.11)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Ile437Thr,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							MODERATE	1310/4743	I437T	GLI3_HUMAN			Transcript		benign(0.033)	.	ENSP00000379258	2.47E-05	CCDS5465.1			1	
KCNJ2	0	LGGM	GRCh37	17	68171888	68171888	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	39	13	.	.	ENST00000243457.3:c.708T>C	p.Ile236=	p.I236=	ENST00000243457	NM_000891.2	236	atT/atC	0	1	1	UPI000004F21A	0		ENST00000243457		ENSG00000123700	6263		52			HGNC	p.I236I		KCNJ2		SNV			1				ENST00000243457	protein_coding			hmmpanther:PTHR11767:SF43,hmmpanther:PTHR11767,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296		I		C		1091/5392							YES	KCNJ2,synonymous_variant,p.=,ENST00000243457,NM_000891.2;KCNJ2,synonymous_variant,p.=,ENST00000535240,;							LOW	708/1284		IRK2_HUMAN			Transcript			.	ENSP00000243457		CCDS11688.1			1	
NETO1	0	LGGM	GRCh37	18	70417737	70417737	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	25	13	.	.	ENST00000327305.6:c.1101G>A	p.Gln367=	p.Q367=	ENST00000327305	NM_138966.3	367	caG/caA	0	1	1	UPI000013E59E	0		ENST00000327305		ENSG00000166342	13823		38			HGNC	p.Q367Q		NETO1		SNV							ENST00000583169	protein_coding			hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127		Q		T		1759/3058							YES	NETO1,synonymous_variant,p.=,ENST00000327305,NM_138966.3;NETO1,synonymous_variant,p.=,ENST00000583169,NM_001201465.1;NETO1,synonymous_variant,p.=,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;							LOW	1101/1602		NETO1_HUMAN			Transcript			.	ENSP00000313088		CCDS12000.1			1	
MED12	0	LGGM	GRCh37	X	70347860	70347860	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	33	14	.	.	ENST00000374080.3:c.3099C>A	p.Thr1033=	p.T1033=	ENST00000374080		1033	acC/acA	0	1	1	UPI00004257E2	0		ENST00000374080		ENSG00000184634	11957		47			HGNC	p.T1001T		MED12		SNV			1				ENST00000430072	protein_coding			hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF4		T		A		3131/6795				Q7Z2F4_HUMAN,Q7Z2F1_HUMAN,Q7Z2E0_HUMAN			YES	MED12,synonymous_variant,p.=,ENST00000333646,NM_005120.2;MED12,synonymous_variant,p.=,ENST00000374102,;MED12,synonymous_variant,p.=,ENST00000374080,;MED12,downstream_gene_variant,,ENST00000462984,;MED12,downstream_gene_variant,,ENST00000471663,;MED12,upstream_gene_variant,,ENST00000489199,;MED12,upstream_gene_variant,,ENST00000460771,;							LOW	3099/6534		MED12_HUMAN			Transcript			.	ENSP00000363193		CCDS43970.1			1	
GRIA4	0	LGGM	GRCh37	11	105623866	105623866	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	37	14	.	.	ENST00000282499.5:c.407C>G	p.Pro136Arg	p.P136R	ENST00000282499	NM_000829.3	136	cCt/cGt	0	1	1	UPI000013DCE6	0	getma.org/pdb.php?prot=GRIA4_HUMAN&from=39&to=380&var=P136R	ENST00000282499		ENSG00000152578	4574		51	2.485		HGNC	p.P136R		GRIA4		SNV							ENST00000282499	protein_coding	getma.org/?cm=var&var=hg19,11,105623866,C,G&fts=all		hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		P/R		G	medium	853/5508		getma.org/?cm=msa&ty=f&p=GRIA4_HUMAN&rb=39&re=380&var=P136R	deleterious(0)	E9PJZ5_HUMAN			YES	GRIA4,missense_variant,p.Pro136Arg,ENST00000393127,NM_001077243.2;GRIA4,missense_variant,p.Pro136Arg,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Pro136Arg,ENST00000530497,;GRIA4,missense_variant,p.Pro136Arg,ENST00000393125,NM_001077244.1;GRIA4,missense_variant,p.Pro136Arg,ENST00000525187,;GRIA4,missense_variant,p.Pro136Arg,ENST00000428631,NM_001112812.1;GRIA4,missense_variant,p.Pro136Arg,ENST00000531011,;GRIA4,non_coding_transcript_exon_variant,,ENST00000525032,;							MODERATE	407/2709	P136R	GRIA4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000282499		CCDS8333.1			1	
FAM133A	0	LGGM	GRCh37	X	92964808	92964808	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	25	14	.	.	ENST00000538690.1:c.390G>C	p.Arg130Ser	p.R130S	ENST00000538690	NM_001171110.1	130	agG/agC	0	1		UPI000006FB0A	0	NA	ENST00000322139		ENSG00000179083	26748		39	0.895		HGNC	p.R130S		FAM133A		SNV							ENST00000538690	protein_coding	getma.org/?cm=var&var=hg19,X,92964808,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31911,hmmpanther:PTHR31911:SF4		R/S		C	low	827/3292		getma.org/?cm=msa&ty=f&p=F133A_HUMAN&rb=1&re=200&var=R130S	tolerated_low_confidence(0.07)					FAM133A,missense_variant,p.Arg130Ser,ENST00000538690,NM_001171110.1;FAM133A,missense_variant,p.Arg130Ser,ENST00000355813,NM_173698.2,NM_001171109.1;FAM133A,missense_variant,p.Arg130Ser,ENST00000322139,NM_001171111.1;FAM133A,missense_variant,p.Arg130Ser,ENST00000332647,;							MODERATE	390/747	R130S	F133A_HUMAN			Transcript		unknown(0)	.	ENSP00000318974		CCDS14466.1			1	
RSPH4A	0	LGGM	GRCh37	6	116949131	116949131	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	24	14	.	.	ENST00000229554.5:c.1261G>T	p.Glu421Ter	p.E421*	ENST00000229554	NM_001010892.2	421	Gaa/Taa	0	1	1	UPI00001D80C4	0	NA	ENST00000229554		ENSG00000111834	21558		38	0		HGNC	p.E421X	rs751963395	RSPH4A		SNV			1				ENST00000229554	protein_coding	getma.org/?cm=var&var=hg19,6,116949131,G,T&fts=all		hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF3,Pfam_domain:PF04712		E/*		T	NA	1398/2825	1.50E-05	NA					YES	RSPH4A,stop_gained,p.Glu421Ter,ENST00000229554,NM_001010892.2;RSPH4A,stop_gained,p.Glu421Ter,ENST00000368581,NM_001161664.1;RSPH4A,intron_variant,,ENST00000368580,;							HIGH	1261/2151	E421*	RSH4A_HUMAN			Transcript			.	ENSP00000229554	8.24E-06	CCDS34521.1			1	
CACYBP	0	LGGM	GRCh37	1	174979144	174979144	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	117	16	.	.	ENST00000367679.2:c.616A>T	p.Met206Leu	p.M206L	ENST00000367679	NM_014412.2	206	Atg/Ttg	0	1	1	UPI0000032D9C	0	getma.org/pdb.php?prot=CYBP_HUMAN&from=160&to=222&var=M206L	ENST00000367679		ENSG00000116161	30423		133	3.185		HGNC	p.M206L		CACYBP		SNV							ENST00000367679	protein_coding	getma.org/?cm=var&var=hg19,1,174979144,A,T&fts=all		Pfam_domain:PF05002,PROSITE_profiles:PS51048,hmmpanther:PTHR13164		M/L		T	medium	1064/2766		getma.org/?cm=msa&ty=f&p=CYBP_HUMAN&rb=160&re=222&var=M206L	deleterious(0.01)	B2ZWH1_HUMAN			YES	CACYBP,missense_variant,p.Met163Leu,ENST00000367681,NM_001007214.1;CACYBP,missense_variant,p.Met206Leu,ENST00000367679,NM_014412.2;CACYBP,missense_variant,p.Met163Leu,ENST00000405362,;MRPS14,downstream_gene_variant,,ENST00000476371,NM_022100.2;CACYBP,downstream_gene_variant,,ENST00000406752,;MRPS14,downstream_gene_variant,,ENST00000498253,;MRPS14,downstream_gene_variant,,ENST00000367677,;CACYBP,downstream_gene_variant,,ENST00000469173,;CACYBP,downstream_gene_variant,,ENST00000473925,;CACYBP,downstream_gene_variant,,ENST00000483307,;							MODERATE	616/687	M206L	CYBP_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000356652		CCDS1315.1			1	
SAMD7	0	LGGM	GRCh37	3	169644918	169644918	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	20	16	.	.	ENST00000428432.2:c.868T>A	p.Cys290Ser	p.C290S	ENST00000428432	NM_182610.2	290	Tgt/Agt	0	1		UPI00001A9D13	0	NA	ENST00000335556		ENSG00000187033	25394		36	0.55		HGNC	p.C290S		SAMD7		SNV							ENST00000335556	protein_coding	getma.org/?cm=var&var=hg19,3,169644918,T,A&fts=all		hmmpanther:PTHR12247:SF17,hmmpanther:PTHR12247		C/S		A	neutral	1234/2376		getma.org/?cm=msa&ty=f&p=SAMD7_HUMAN&rb=289&re=324&var=C290S	tolerated(0.27)					SAMD7,missense_variant,p.Cys290Ser,ENST00000428432,NM_182610.2;SAMD7,missense_variant,p.Cys290Ser,ENST00000335556,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;RP11-379K17.2,upstream_gene_variant,,ENST00000493762,;							MODERATE	868/1341	C290S	SAMD7_HUMAN			Transcript		benign(0.272)	.	ENSP00000334668		CCDS3209.1			1	
CSF1R	0	LGGM	GRCh37	5	149449615	149449615	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	16	17	.	.	ENST00000286301.3:c.1331C>T	p.Ala444Val	p.A444V	ENST00000286301	NM_005211.3	444	gCc/gTc	0	1	1	UPI000004984A	0	getma.org/pdb.php?prot=CSF1R_HUMAN&from=399&to=489&var=A444V	ENST00000286301		ENSG00000182578	2433		33	1.7		HGNC	p.A444V		CSF1R		SNV			1				ENST00000286301	protein_coding	getma.org/?cm=var&var=hg19,5,149449615,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Pfam_domain:PF13927,Gene3D:2.60.40.10,SMART_domains:SM00409,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,SMART_domains:SM00408,Superfamily_domains:SSF48726		A/V		A	low	1623/3989		getma.org/?cm=msa&ty=f&p=CSF1R_HUMAN&rb=399&re=489&var=A444V	tolerated(0.61)	Q6LEI2_HUMAN,D6RGW1_HUMAN			YES	CSF1R,missense_variant,p.Ala444Val,ENST00000286301,NM_005211.3,NM_001288705.1;CSF1R,downstream_gene_variant,,ENST00000543093,;CSF1R,upstream_gene_variant,,ENST00000515239,;CSF1R,missense_variant,p.Ala444Val,ENST00000504875,;CSF1R,upstream_gene_variant,,ENST00000513609,;							MODERATE	1331/2919	A444V	CSF1R_HUMAN			Transcript		benign(0.098)	.	ENSP00000286301		CCDS4302.1			1	
PCDHA8	0	LGGM	GRCh37	5	140222592	140222592	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	33	18	.	.	ENST00000531613.1:c.1686G>A	p.Ala562=	p.A562=	ENST00000531613	NM_018911.2	562	gcG/gcA	0	1	1	UPI00001273D0	0		ENST00000531613		ENSG00000204962	8674		51			HGNC	p.A562A		PCDHA8		SNV							ENST00000531613	protein_coding			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		A		A		1686/5260							YES	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;							LOW	1686/2853		PCDA8_HUMAN			Transcript			.	ENSP00000434655		CCDS54919.1			1	
CHIA	0	LGGM	GRCh37	1	111854826	111854826	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	13	18	.	.	ENST00000369740.1:c.70C>T	p.Leu24=	p.L24=	ENST00000369740	NM_001258001.1	24	Ctg/Ttg	0	1		UPI00000727DC	0		ENST00000343320		ENSG00000134216	17432		31			HGNC	p.L24L		CHIA		SNV							ENST00000343320	protein_coding			Gene3D:3.20.20.80,Pfam_domain:PF00704,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF37,SMART_domains:SM00636,Superfamily_domains:SSF51445		L		T		164/1622				E9PLJ2_HUMAN				CHIA,synonymous_variant,p.=,ENST00000369740,NM_001258001.1,NM_201653.3;CHIA,synonymous_variant,p.=,ENST00000343320,;CHIA,intron_variant,,ENST00000451398,NM_001258004.1;CHIA,intron_variant,,ENST00000422815,NM_021797.3,NM_001258003.1;CHIA,intron_variant,,ENST00000430615,;CHIA,intron_variant,,ENST00000353665,NM_001258005.1;CHIA,intron_variant,,ENST00000483391,NM_001258002.1,NM_001040623.2;CHIA,intron_variant,,ENST00000489524,;CHIA,intron_variant,,ENST00000477918,;CHIA,intron_variant,,ENST00000352594,;							LOW	70/1431		CHIA_HUMAN			Transcript			.	ENSP00000341828		CCDS41368.1			1	
APC	0	LGGM	GRCh37	5	112173801	112173801	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	58	18	.	.	ENST00000257430.4:c.2510C>T	p.Ser837Leu	p.S837L	ENST00000257430	NM_000038.5	837	tCa/tTa	0	1		UPI000013CF60	0	NA	ENST00000257430		ENSG00000134982	583		76	1.245		HGNC	p.S819L		APC		SNV			1				ENST00000507379	protein_coding	getma.org/?cm=var&var=hg19,5,112173801,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11		S/L		T	low	2566/10701		getma.org/?cm=msa&ty=f&p=APC_HUMAN&rb=732&re=931&var=S837L		Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN				APC,missense_variant,p.Ser837Leu,ENST00000457016,;APC,missense_variant,p.Ser837Leu,ENST00000257430,NM_000038.5;APC,missense_variant,p.Ser837Leu,ENST00000508376,NM_001127510.2;APC,missense_variant,p.Ser837Leu,ENST00000512211,;APC,missense_variant,p.Ser819Leu,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,;							MODERATE	2510/8532	S837L	APC_HUMAN			Transcript		benign(0.007)	.	ENSP00000257430		CCDS4107.1			1	
KCNJ16	0	LGGM	GRCh37	17	68128316	68128316	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	90	19	.	.	ENST00000392670.1:c.88A>G	p.Arg30Gly	p.R30G	ENST00000392670		30	Aga/Gga	0	1		UPI000012D8B3	0	NA	ENST00000283936		ENSG00000153822	6262		109	0.695		HGNC	p.R65G		KCNJ16		SNV							ENST00000585558	protein_coding	getma.org/?cm=var&var=hg19,17,68128316,A,G&fts=all		Prints_domain:PR01678,PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF24		R/G		G	neutral	574/4002		getma.org/?cm=msa&ty=f&p=IRK16_HUMAN&rb=1&re=36&var=R30G	tolerated(0.08)	K7ELL5_HUMAN,K7EKJ4_HUMAN				KCNJ16,missense_variant,p.Arg65Gly,ENST00000585558,;KCNJ16,missense_variant,p.Arg30Gly,ENST00000392670,;KCNJ16,missense_variant,p.Arg30Gly,ENST00000283936,NM_018658.2;KCNJ16,missense_variant,p.Arg30Gly,ENST00000392671,NM_170741.2;KCNJ16,missense_variant,p.Arg30Gly,ENST00000589377,NM_001270422.1;KCNJ16,missense_variant,p.Arg69Gly,ENST00000586462,;KCNJ16,missense_variant,p.Arg30Gly,ENST00000587698,;KCNJ16,missense_variant,p.Arg30Gly,ENST00000587892,;KCNJ16,missense_variant,p.Arg30Gly,ENST00000591891,;AC002539.1,upstream_gene_variant,,ENST00000435112,;							MODERATE	88/1257	R30G	IRK16_HUMAN			Transcript		benign(0.054)	.	ENSP00000283936		CCDS11687.1			1	
SACS	0	LGGM	GRCh37	13	23914602	23914602	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	68	20	.	.	ENST00000382298.3:c.3413A>G	p.Asn1138Ser	p.N1138S	ENST00000382298	NM_014363.5	1138	aAt/aGt	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		88	1.935		HGNC	p.N388S		SACS		SNV			1				ENST00000402364	protein_coding	getma.org/?cm=var&var=hg19,13,23914602,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		N/S		C	medium	3687/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=1082&re=1281&var=N1138S						SACS,missense_variant,p.Asn1138Ser,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Asn1138Ser,ENST00000382292,;SACS,missense_variant,p.Asn388Ser,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							MODERATE	3413/13740	N1138S	SACS_HUMAN			Transcript		benign(0.026)	.	ENSP00000371729		CCDS9300.2			1	
SORL1	0	LGGM	GRCh37	11	121414431	121414431	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	55	21	.	.	ENST00000260197.7:c.1860C>G	p.Ala620=	p.A620=	ENST00000260197	NM_003105.5	620	gcC/gcG	0	1	1	UPI000013D0B1	0		ENST00000260197		ENSG00000137642	11185		76			HGNC	p.A620A		SORL1		SNV			1				ENST00000260197	protein_coding			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602,Superfamily_domains:SSF110296		A		G		1989/10904				E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,synonymous_variant,p.=,ENST00000260197,NM_003105.5;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;							LOW	1860/6645		SORL_HUMAN			Transcript			.	ENSP00000260197		CCDS8436.1			1	
ATP8B4	0	LGGM	GRCh37	15	50158627	50158627	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	45	24	.	.	ENST00000284509.6:c.3082A>G	p.Ser1028Gly	p.S1028G	ENST00000284509	NM_024837.3	1028	Agc/Ggc	0	1	1	UPI0000055904	0	NA	ENST00000284509		ENSG00000104043	13536		69	3.105		HGNC	p.S1028G		ATP8B4		SNV							ENST00000559829	protein_coding	getma.org/?cm=var&var=hg19,15,50158627,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		S/G		C	medium	3224/5677		getma.org/?cm=msa&ty=f&p=AT8B4_HUMAN&rb=1025&re=1192&var=S1028G	deleterious(0)	H0YMB5_HUMAN			YES	ATP8B4,missense_variant,p.Ser1028Gly,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Ser1028Gly,ENST00000559829,;ATP8B4,missense_variant,p.Ser119Gly,ENST00000558498,;ATP8B4,missense_variant,p.Ser331Gly,ENST00000560479,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;ATP8B4,3_prime_UTR_variant,,ENST00000557955,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558203,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000560354,;							MODERATE	3082/3579	S1028G	AT8B4_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000284509		CCDS32238.1			1	
FRY	0	LGGM	GRCh37	13	32849030	32849030	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	39	28	.	.	ENST00000380250.3:c.8188G>T	p.Gly2730Ter	p.G2730*	ENST00000380250	NM_023037.2	2730	Gga/Tga	0	1		UPI000206542B	0	NA	ENST00000542859		ENSG00000073910	20367		67	0		HGNC	p.G100X		FRY		SNV							ENST00000542859	protein_coding	getma.org/?cm=var&var=hg19,13,32849030,G,T&fts=all		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29		G/*		T	NA	481/1517		NA		F5H4D2_HUMAN				FRY,stop_gained,p.Gly2730Ter,ENST00000380250,NM_023037.2;FRY,stop_gained,p.Gly100Ter,ENST00000542859,;FRY,3_prime_UTR_variant,,ENST00000477712,;FRY,intron_variant,,ENST00000602645,;							HIGH	298/1152	G2730*				Transcript			.	ENSP00000445043					1	
EIF4A3	0	LGGM	GRCh37	17	78109820	78109820	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	115	28	.	.	ENST00000269349.3:c.1202A>T	p.Asp401Val	p.D401V	ENST00000269349	NM_014740.3	401	gAt/gTt	0	1	1	UPI000012D374	0	getma.org/pdb.php?prot=IF4A3_HUMAN&from=250&to=411&var=D401V	ENST00000269349		ENSG00000141543	18683		143	0.64		HGNC	p.D401V		EIF4A3		SNV			1				ENST00000269349	protein_coding	getma.org/?cm=var&var=hg19,17,78109820,T,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF57		D/V		A	neutral	1424/1734		getma.org/?cm=msa&ty=f&p=IF4A3_HUMAN&rb=250&re=411&var=D401V	tolerated(0.05)				YES	EIF4A3,missense_variant,p.Asp401Val,ENST00000269349,NM_014740.3;EIF4A3,downstream_gene_variant,,ENST00000576547,;EIF4A3,non_coding_transcript_exon_variant,,ENST00000575978,;EIF4A3,non_coding_transcript_exon_variant,,ENST00000576573,;EIF4A3,non_coding_transcript_exon_variant,,ENST00000570625,;EIF4A3,downstream_gene_variant,,ENST00000575668,;EIF4A3,downstream_gene_variant,,ENST00000570837,;							MODERATE	1202/1236	D401V	IF4A3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269349		CCDS11767.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20187610	20187610	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	78	30	.	.	ENST00000379565.3:c.1354-1G>A		p.X452_splice	ENST00000379565	NM_004586.2			0	1	1	UPI000012DB2E	0		ENST00000379565		ENSG00000177189	10432		108			HGNC	-		RPS6KA3		SNV			1				ENST00000379565	protein_coding							T		-/7918				Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,splice_acceptor_variant,,ENST00000379565,NM_004586.2;RPS6KA3,splice_acceptor_variant,,ENST00000544447,;RPS6KA3,splice_acceptor_variant,,ENST00000540702,;RPS6KA3,splice_acceptor_variant,,ENST00000379548,;RPS6KA3,splice_acceptor_variant,,ENST00000479809,;							HIGH	1354/2223		KS6A3_HUMAN			Transcript			.	ENSP00000368884		CCDS14197.1			1	
RNF168	0	LGGM	GRCh37	3	196199126	196199126	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	88	31	.	.	ENST00000318037.3:c.1280A>G	p.Gln427Arg	p.Q427R	ENST00000318037	NM_152617.3	427	cAa/cGa	0	1	1	UPI00000741D1	0	NA	ENST00000318037		ENSG00000163961	26661		119	1.95		HGNC	p.Q427R		RNF168		SNV			1				ENST00000318037	protein_coding	getma.org/?cm=var&var=hg19,3,196199126,T,C&fts=all		hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF1		Q/R		C	medium	1875/5347		getma.org/?cm=msa&ty=f&p=RN168_HUMAN&rb=101&re=570&var=Q427R	tolerated(0.33)				YES	RNF168,missense_variant,p.Gln427Arg,ENST00000318037,NM_152617.3;CTD-2002J20.1,upstream_gene_variant,,ENST00000610042,;RNF168,3_prime_UTR_variant,,ENST00000437070,;							MODERATE	1280/1716	Q427R	RN168_HUMAN			Transcript		possibly_damaging(0.542)	.	ENSP00000320898		CCDS3317.1			1	
MAGEB6	0	LGGM	GRCh37	X	26212982	26212982	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	41	35	.	.	ENST00000379034.1:c.1019A>T	p.Lys340Met	p.K340M	ENST00000379034	NM_173523.2	340	aAg/aTg	0	1	1	UPI00001413F4	0	getma.org/pdb.php?prot=MAGB6_HUMAN&from=202&to=372&var=K340M	ENST00000379034		ENSG00000176746	23796		76	3.42		HGNC	p.K340M		MAGEB6		SNV							ENST00000379034	protein_coding	getma.org/?cm=var&var=hg19,X,26212982,A,T&fts=all		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67		K/M		T	medium	1168/1949		getma.org/?cm=msa&ty=f&p=MAGB6_HUMAN&rb=202&re=372&var=K340M	deleterious(0)				YES	MAGEB6,missense_variant,p.Lys340Met,ENST00000379034,NM_173523.2;							MODERATE	1019/1224	K340M	MAGB6_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000368320		CCDS14217.1			1	
ITGB1	0	LGGM	GRCh37	10	33218784	33218784	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	140	46	.	.	ENST00000396033.2:c.342C>G	p.Ile114Met	p.I114M	ENST00000396033	NM_133376.2	114	atC/atG	0	1		UPI0000070EEB	0	getma.org/pdb.php?prot=ITB1_HUMAN&from=34&to=464&var=I114M	ENST00000302278		ENSG00000150093	6153		186	2.255		HGNC	p.I114M		ITGB1		SNV							ENST00000302278	protein_coding	getma.org/?cm=var&var=hg19,10,33218784,G,C&fts=all		Pfam_domain:PF00362,PIRSF_domain:PIRSF002512,Prints_domain:PR01186,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF28,SMART_domains:SM00187		I/M		C	medium	407/3640		getma.org/?cm=msa&ty=f&p=ITB1_HUMAN&rb=34&re=464&var=I114M	deleterious(0.01)	Q5T3E6_HUMAN,Q5T3E5_HUMAN,Q5T3E4_HUMAN,E9PQJ2_HUMAN,E9PLR6_HUMAN,E7ERX5_HUMAN,E7EQW5_HUMAN,C9JPK5_HUMAN,C9JJP8_HUMAN				ITGB1,missense_variant,p.Ile114Met,ENST00000396033,NM_133376.2;ITGB1,missense_variant,p.Ile114Met,ENST00000374956,;ITGB1,missense_variant,p.Ile114Met,ENST00000423113,NM_033668.2;ITGB1,missense_variant,p.Ile114Met,ENST00000302278,NM_002211.3;ITGB1,missense_variant,p.Ile57Met,ENST00000474568,;ITGB1,missense_variant,p.Ile114Met,ENST00000480226,;ITGB1,missense_variant,p.Ile114Met,ENST00000534049,;ITGB1,missense_variant,p.Ile114Met,ENST00000475184,;ITGB1,missense_variant,p.Ile117Met,ENST00000488494,;ITGB1,missense_variant,p.Ile114Met,ENST00000437302,;ITGB1,downstream_gene_variant,,ENST00000472147,;ITGB1,downstream_gene_variant,,ENST00000417122,;ITGB1,downstream_gene_variant,,ENST00000528877,;ITGB1,downstream_gene_variant,,ENST00000414670,;ITGB1,downstream_gene_variant,,ENST00000493758,;ITGB1,non_coding_transcript_exon_variant,,ENST00000484088,;ITGB1,downstream_gene_variant,,ENST00000464001,;							MODERATE	342/2397	I114M	ITB1_HUMAN			Transcript		possibly_damaging(0.698)	.	ENSP00000303351		CCDS7174.1			1	
BLTP1	0	LGGM	GRCh37	4	123128275	123128275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062024	H062024N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	121	48	.	.	ENST00000264501.4:c.1509A>T	p.Gln503His	p.Q503H	ENST00000264501		503	caA/caT	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		169	1.245		HGNC	p.Q503H		KIAA1109		SNV							ENST00000264501	protein_coding	getma.org/?cm=var&var=hg19,4,123128275,A,T&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		Q/H		T	low	1882/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1&re=1180&var=Q503H		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Gln503His,ENST00000264501,;KIAA1109,missense_variant,p.Gln503His,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Gln503His,ENST00000455637,;KIAA1109,missense_variant,p.Gln336His,ENST00000424425,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;KIAA1109,upstream_gene_variant,,ENST00000482114,;							MODERATE	1509/15018	Q503H	K1109_HUMAN			Transcript		benign(0.004)	.	ENSP00000264501		CCDS43267.1			1	
OVCH2	0	LGGM	GRCh37	11	7723834	7723834	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	58	53	.	.	ENST00000454689.1:c.333C>T	p.Asp111=	p.D111=	ENST00000454689	NM_198185.3	111	gaC/gaT	0	1	1	UPI00015294E3	0		ENST00000454689		ENSG00000183378	29970		111			HGNC	p.D111D		OVCH2		SNV							ENST00000454689	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24251:SF16,hmmpanther:PTHR24251,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		D		A		333/1695							YES	OVCH2,synonymous_variant,p.=,ENST00000454689,NM_198185.3;RP11-35J10.5,downstream_gene_variant,,ENST00000527565,;RP11-35J10.4,upstream_gene_variant,,ENST00000527443,;OVCH2,synonymous_variant,p.=,ENST00000534193,;							LOW	333/1695		OVCH2_HUMAN			Transcript			.	ENSP00000407158					1	
COX6C	0	LGGM	GRCh37	8	100904163	100904163	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	279	53	.	.	ENST00000520468.2:c.87A>T	p.Leu29=	p.L29=	ENST00000520468	NM_004374.3	29	ctA/ctT	0	1		UPI0000049C8E	0		ENST00000297564		ENSG00000164919	2285		332			HGNC	p.L29L		COX6C		SNV							ENST00000518171	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12916,Gene3D:1v54I00,Pfam_domain:PF02937,Superfamily_domains:0041784		L		A		159/433								COX6C,synonymous_variant,p.=,ENST00000520468,NM_004374.3;COX6C,synonymous_variant,p.=,ENST00000523016,;COX6C,synonymous_variant,p.=,ENST00000518171,;COX6C,synonymous_variant,p.=,ENST00000522940,;COX6C,synonymous_variant,p.=,ENST00000520271,;COX6C,synonymous_variant,p.=,ENST00000524245,;COX6C,synonymous_variant,p.=,ENST00000297564,;COX6C,synonymous_variant,p.=,ENST00000517682,;COX6C,synonymous_variant,p.=,ENST00000520517,;COX6C,synonymous_variant,p.=,ENST00000522934,;							LOW	87/228		COX6C_HUMAN			Transcript			.	ENSP00000297564		CCDS6284.1			1	
EHBP1	0	LGGM	GRCh37	2	63101542	63101542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062024	H062024N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	117	55	.	.	ENST00000263991.5:c.1165C>A	p.Gln389Lys	p.Q389K	ENST00000263991	NM_015252.3	389	Caa/Aaa	0	1	1	UPI000013D49A	0	NA	ENST00000263991		ENSG00000115504	29144		172	0.755		HGNC	p.Q389K		EHBP1		SNV			1				ENST00000263991	protein_coding	getma.org/?cm=var&var=hg19,2,63101542,C,A&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124		Q/K		A	neutral	1647/5165		getma.org/?cm=msa&ty=f&p=EHBP1_HUMAN&rb=191&re=429&var=Q389K	tolerated(0.7)	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN			YES	EHBP1,missense_variant,p.Gln389Lys,ENST00000263991,NM_015252.3;EHBP1,missense_variant,p.Gln354Lys,ENST00000431489,NM_001142616.1;EHBP1,missense_variant,p.Gln354Lys,ENST00000354487,NM_001142614.1;EHBP1,missense_variant,p.Gln354Lys,ENST00000405015,NM_001142615.2;EHBP1,missense_variant,p.Gln354Lys,ENST00000405289,;EHBP1,non_coding_transcript_exon_variant,,ENST00000462441,;							MODERATE	1165/3696	Q389K	EHBP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000263991		CCDS1872.1			1	
CSMD3	0	LGGM	GRCh37	8	113392610	113392610	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062024	H062024N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	76	90	.	.	ENST00000297405.5:c.6107C>T	p.Ser2036Phe	p.S2036F	ENST00000297405	NM_198123.1	2036	tCt/tTt	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=1939&to=2044&var=S2036F	ENST00000297405		ENSG00000164796	19291		166	2.68		HGNC	p.S1996F		CSMD3		SNV							ENST00000343508	protein_coding	getma.org/?cm=var&var=hg19,8,113392610,G,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00042,Superfamily_domains:SSF49854		S/F		A	medium	6352/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=1939&re=2044&var=S2036F	deleterious(0)				YES	CSMD3,missense_variant,p.Ser2036Phe,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser1996Phe,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser1966Phe,ENST00000352409,;CSMD3,missense_variant,p.Ser1932Phe,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser1306Phe,ENST00000339701,;							MODERATE	6107/11124	S2036F	CSMD3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000297405		CCDS6315.1			1	
NAMPTL	0	LGGM	GRCh37	10	36812421	36812421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062024	H062024N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062024N.bam, H062024T.bam	Illumina HiSeq	153	115	.	.	ENST00000440465.1:c.742A>G	p.Thr248Ala	p.T248A	ENST00000440465		248	Aca/Gca	0	1	1	UPI00004701B5	0		ENST00000440465		ENSG00000229644	17633		268			HGNC	p.T248A		NAMPTL		SNV							ENST00000440465	protein_coding			hmmpanther:PTHR11098:SF2,hmmpanther:PTHR11098,Pfam_domain:PF04095,Gene3D:3.20.140.10,PIRSF_domain:PIRSF005943,Superfamily_domains:SSF51690		T/A		C		742/2514			tolerated(0.59)	Q658Z1_HUMAN,Q5SYT8_HUMAN,F5H246_HUMAN			YES	NAMPTL,missense_variant,p.Thr248Ala,ENST00000440465,;NAMPTL,upstream_gene_variant,,ENST00000543053,;							MODERATE	742/1419					Transcript		benign(0.002)	.	ENSP00000407952					1	
SYNPR	0	LGGM	GRCh37	3	63542296	63542296	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	42	3	.	.	ENST00000478300.1:c.287C>A	p.Ser96Ter	p.S96*	ENST00000478300	NM_001130003.1	96	tCg/tAg	0	1		UPI0000073C62	0	NA	ENST00000295894		ENSG00000163630	16507		45	0		HGNC	p.S87X	COSM1538350	SYNPR		SNV						1	ENST00000460711	protein_coding	getma.org/?cm=var&var=hg19,3,63542296,C,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF01284,hmmpanther:PTHR10306:SF16,hmmpanther:PTHR10306,PROSITE_profiles:PS51225		S/*		A	NA	596/2607		NA		B7Z9J3_HUMAN				SYNPR,stop_gained,p.Ser96Ter,ENST00000478300,NM_001130003.1;SYNPR,stop_gained,p.Ser76Ter,ENST00000295894,NM_144642.4;SYNPR,stop_gained,p.Ser76Ter,ENST00000479198,;SYNPR,stop_gained,p.Ser87Ter,ENST00000460711,;SYNPR,stop_gained,p.Ser76Ter,ENST00000465156,;SYNPR,non_coding_transcript_exon_variant,,ENST00000478744,;SYNPR,non_coding_transcript_exon_variant,,ENST00000493532,;SYNPR,non_coding_transcript_exon_variant,,ENST00000478456,;SYNPR,non_coding_transcript_exon_variant,,ENST00000496889,;SYNPR,non_coding_transcript_exon_variant,,ENST00000460142,;SYNPR,non_coding_transcript_exon_variant,,ENST00000467934,;SYNPR,3_prime_UTR_variant,,ENST00000450542,;SYNPR,3_prime_UTR_variant,,ENST00000472899,;SYNPR,intron_variant,,ENST00000468110,;SYNPR,intron_variant,,ENST00000498449,;					1		HIGH	227/798	S76*	SYNPR_HUMAN			Transcript			.	ENSP00000295894		CCDS46860.1			1	
NAT10	0	LGGM	GRCh37	11	34158222	34158222	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	42	3	.	.	ENST00000257829.3:c.2062C>A	p.Arg688=	p.R688=	ENST00000257829	NM_024662.2	688	Cgg/Agg	0	1	1	UPI000013CF8E	0		ENST00000257829		ENSG00000135372	29830		45			HGNC	p.R688R		NAT10		SNV							ENST00000257829	protein_coding			Pfam_domain:PF13718,PROSITE_profiles:PS51186,hmmpanther:PTHR10925		R		A		2268/4002				E9PJN6_HUMAN,E7ESU4_HUMAN			YES	NAT10,synonymous_variant,p.=,ENST00000257829,NM_024662.2;NAT10,synonymous_variant,p.=,ENST00000531159,NM_001144030.1;NAT10,intron_variant,,ENST00000527971,;NAT10,upstream_gene_variant,,ENST00000530017,;							LOW	2062/3078		NAT10_HUMAN			Transcript			.	ENSP00000257829		CCDS7889.1			1	
RPTOR	0	LGGM	GRCh37	17	78704418	78704418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	26	3	.	.	ENST00000306801.3:c.566C>A	p.Pro189Gln	p.P189Q	ENST00000306801	NM_020761.2	189	cCg/cAg	0	1	1	UPI000007000F	0	NA	ENST00000306801		ENSG00000141564	30287		29	3.515		HGNC	p.P189Q		RPTOR		SNV							ENST00000544334	protein_coding	getma.org/?cm=var&var=hg19,17,78704418,C,A&fts=all		Pfam_domain:PF14538,Prints_domain:PR01547,hmmpanther:PTHR12848		P/Q		A	high	928/6408		getma.org/?cm=msa&ty=f&p=RPTOR_HUMAN&rb=1&re=200&var=P189Q	deleterious(0)	Q6DKI0_HUMAN			YES	RPTOR,missense_variant,p.Pro189Gln,ENST00000306801,NM_020761.2;RPTOR,missense_variant,p.Pro189Gln,ENST00000544334,NM_001163034.1;RPTOR,missense_variant,p.Pro4Gln,ENST00000537330,;RPTOR,missense_variant,p.Pro189Gln,ENST00000570891,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;RPTOR,non_coding_transcript_exon_variant,,ENST00000572733,;RPTOR,3_prime_UTR_variant,,ENST00000574767,;							MODERATE	566/4008	P189Q	RPTOR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000307272		CCDS11773.1			1	
TMEM154	0	LGGM	GRCh37	4	153562129	153562129	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	22	3	.	.	ENST00000304385.3:c.487G>T	p.Glu163Ter	p.E163*	ENST00000304385	NM_152680.2	163	Gaa/Taa	0	1	1	UPI000006FAE5	0	NA	ENST00000304385		ENSG00000170006	26489		25	0		HGNC	p.E163X		TMEM154		SNV							ENST00000304385	protein_coding	getma.org/?cm=var&var=hg19,4,153562129,C,A&fts=all		Pfam_domain:PF15102		E/*		A	NA	719/10698		NA					YES	TMEM154,stop_gained,p.Glu163Ter,ENST00000304385,NM_152680.2;TMEM154,non_coding_transcript_exon_variant,,ENST00000510252,;							HIGH	487/552	E163*	TM154_HUMAN			Transcript			.	ENSP00000302144		CCDS3779.1			1	
OBSCN	0	LGGM	GRCh37	1	228494675	228494675	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	3	3	.	.	ENST00000570156.2:c.14871C>T	p.Cys4957=	p.C4957=	ENST00000570156	NM_001271223.2	4957	tgC/tgT	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719	0.00105	6			HGNC	p.C4712C	rs374501640	OBSCN	0.000103	SNV	T:0.0009			0.00185			ENST00000570156	protein_coding		T:0.0008	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		C	T:0.0001	T		12044/24030	7.55E-05				T:0	T:0		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,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,;		T:0.0002					LOW	12000/23907		OBSCN_HUMAN		T:0	Transcript			common_variant	ENSP00000409493	0.000124	CCDS58065.1		T:0	1	
GBF1	0	LGGM	GRCh37	10	104136132	104136132	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	41	3	.	.	ENST00000369983.3:c.3987G>T	p.Pro1329=	p.P1329=	ENST00000369983	NM_004193.2	1329	ccG/ccT	0	1	1	UPI000012B228	0		ENST00000369983		ENSG00000107862	4181		44			HGNC	p.P1329P		GBF1		SNV							ENST00000369983	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138		P		T		4247/6403				Q149P0_HUMAN			YES	GBF1,synonymous_variant,p.=,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;							LOW	3987/5580		GBF1_HUMAN			Transcript			.	ENSP00000359000		CCDS7533.1			1	
PLA2G2D	0	LGGM	GRCh37	1	20442101	20442101	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	14	3	.	.	ENST00000375105.3:c.191G>T	p.Cys64Phe	p.C64F	ENST00000375105	NM_012400.3	64	tGc/tTc	0	1	1	UPI0000131132	0	getma.org/pdb.php?prot=PA2GD_HUMAN&from=21&to=140&var=C64F	ENST00000375105		ENSG00000117215	9033		17	4.04		HGNC	p.C64F		PLA2G2D		SNV							ENST00000375105	protein_coding	getma.org/?cm=var&var=hg19,1,20442101,C,A&fts=all		Gene3D:1.20.90.10,Pfam_domain:PF00068,Prints_domain:PR00389,PROSITE_patterns:PS00118,hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF12,SMART_domains:SM00085,Superfamily_domains:SSF48619		C/F		A	high	250/2672		getma.org/?cm=msa&ty=f&p=PA2GD_HUMAN&rb=21&re=140&var=C64F	deleterious(0)				YES	PLA2G2D,missense_variant,p.Cys64Phe,ENST00000375105,NM_012400.3;							MODERATE	191/438	C64F	PA2GD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364246		CCDS203.1			1	
SIPA1L3	0	LGGM	GRCh37	19	38631984	38631984	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	27	3	.	.	ENST00000222345.6:c.3304A>T	p.Thr1102Ser	p.T1102S	ENST00000222345	NM_015073.1	1102	Acc/Tcc	0	1	1	UPI00001D8160	0	NA	ENST00000222345		ENSG00000105738	23801		30	0		HGNC	p.T1102S		SIPA1L3		SNV							ENST00000222345	protein_coding	getma.org/?cm=var&var=hg19,19,38631984,A,T&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15		T/S		T	neutral	3813/7987		getma.org/?cm=msa&ty=f&p=SI1L3_HUMAN&rb=1029&re=1228&var=T1102S	tolerated(0.49)	Q8IUV1_HUMAN			YES	SIPA1L3,missense_variant,p.Thr1102Ser,ENST00000222345,NM_015073.1;							MODERATE	3304/5346	T1102S	SI1L3_HUMAN			Transcript		benign(0.001)	.	ENSP00000222345		CCDS33007.1			1	
HECTD1	0	LGGM	GRCh37	14	31619205	31619205	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	17	3	.	.	ENST00000399332.1:c.2155G>T	p.Glu719Ter	p.E719*	ENST00000399332	NM_015382.2	719	Gaa/Taa	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		20	0		HGNC	p.E719X		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31619205,C,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,Low_complexity_(Seg):seg		E/*		A	NA	2644/9134		NA		G3V4V5_HUMAN			YES	HECTD1,stop_gained,p.Glu719Ter,ENST00000399332,NM_015382.2;HECTD1,stop_gained,p.Glu719Ter,ENST00000553700,;HECTD1,stop_gained,p.Glu193Ter,ENST00000553957,;HECTD1,stop_gained,p.Glu719Ter,ENST00000556224,;							HIGH	2155/7833	E719*	HECD1_HUMAN			Transcript			.	ENSP00000382269		CCDS41939.1			1	
FZD3	0	LGGM	GRCh37	8	28378279	28378279	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	39	3	.	.	ENST00000240093.3:c.314G>T	p.Arg105Leu	p.R105L	ENST00000240093	NM_017412.3	105	cGg/cTg	0	1	1	UPI000003156A	0	getma.org/pdb.php?prot=FZD3_HUMAN&from=28&to=138&var=R105L	ENST00000240093		ENSG00000104290	4041		42	2.13		HGNC	p.R105L		FZD3		SNV							ENST00000537916	protein_coding	getma.org/?cm=var&var=hg19,8,28378279,G,T&fts=all		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,SMART_domains:SM00063,Superfamily_domains:SSF63501		R/L		T	medium	792/13726		getma.org/?cm=msa&ty=f&p=FZD3_HUMAN&rb=28&re=138&var=R105L	deleterious(0.01)	E5RGI9_HUMAN			YES	FZD3,missense_variant,p.Arg105Leu,ENST00000240093,NM_017412.3;FZD3,missense_variant,p.Arg105Leu,ENST00000537916,NM_145866.1;							MODERATE	314/2001	R105L	FZD3_HUMAN			Transcript		possibly_damaging(0.592)	.	ENSP00000240093		CCDS6069.1			1	
VEZF1	0	LGGM	GRCh37	17	56058110	56058110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	35	3	.	.	ENST00000581208.1:c.830G>T	p.Arg277Leu	p.R277L	ENST00000581208	NM_007146.2	277	cGg/cTg	0	1	1	UPI000013D01B	0	getma.org/pdb.php?prot=VEZF1_HUMAN&from=261&to=283&var=R277L	ENST00000581208		ENSG00000136451	12949		38	0.6		HGNC	p.R277L		VEZF1		SNV							ENST00000581208	protein_coding	getma.org/?cm=var&var=hg19,17,56058110,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF319,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13894,SMART_domains:SM00355		R/L		A	neutral	871/2321		getma.org/?cm=msa&ty=f&p=VEZF1_HUMAN&rb=241&re=303&var=R277L	deleterious(0.02)				YES	VEZF1,missense_variant,p.Arg96Leu,ENST00000258963,;VEZF1,missense_variant,p.Arg268Leu,ENST00000584396,;VEZF1,missense_variant,p.Arg277Leu,ENST00000581208,NM_007146.2;VEZF1,downstream_gene_variant,,ENST00000583932,;							MODERATE	830/1566	R277L	VEZF1_HUMAN			Transcript		benign(0.154)	.	ENSP00000462337		CCDS32687.1			1	
ANKRD34A	0	LGGM	GRCh37	1	145474495	145474495	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	3	3	.	.	ENST00000323397.4:c.1167G>A	p.Gly389=	p.G389=	ENST00000323397	NM_001039888.3	389	ggG/ggA	0	1	1	UPI00001410C4	0		ENST00000323397		ENSG00000181039	27639		6			HGNC	p.G389G		ANKRD34A		SNV							ENST00000323397	protein_coding			hmmpanther:PTHR24156,hmmpanther:PTHR24156:SF4		G		A		2460/3611							YES	ANKRD34A,synonymous_variant,p.=,ENST00000323397,NM_001039888.3;LIX1L,upstream_gene_variant,,ENST00000369308,NM_153713.2;POLR3GL,upstream_gene_variant,,ENST00000369314,NM_032305.1;POLR3GL,upstream_gene_variant,,ENST00000369313,;RP11-315I20.1,downstream_gene_variant,,ENST00000600340,;POLR3GL,upstream_gene_variant,,ENST00000446572,;POLR3GL,upstream_gene_variant,,ENST00000471706,;							LOW	1167/1491		AN34A_HUMAN			Transcript			.	ENSP00000314103		CCDS30829.1			1	
RAB4B	0	LGGM	GRCh37	19	41292583	41292583	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	17	3	.	.	ENST00000594136.1:c.444G>T	p.Leu148=	p.L148=	ENST00000594136		148	ctG/ctT	0	1		UPI000000125C	0		ENST00000357052		ENSG00000167578	9782		20			HGNC	p.G97X		RAB4B		SNV							ENST00000378307	protein_coding			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,Prints_domain:PR00449		L		T		554/1140								RAB4B,synonymous_variant,p.=,ENST00000594800,;RAB4B,synonymous_variant,p.=,ENST00000357052,NM_016154.4;RAB4B,synonymous_variant,p.=,ENST00000595728,;RAB4B,synonymous_variant,p.=,ENST00000602173,;RAB4B,non_coding_transcript_exon_variant,,ENST00000602069,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000601949,;RAB4B,stop_gained,p.Gly97Ter,ENST00000378307,;RAB4B-EGLN2,synonymous_variant,p.=,ENST00000594136,;MIA-RAB4B,3_prime_UTR_variant,,ENST00000600729,;RAB4B,non_coding_transcript_exon_variant,,ENST00000597476,;RAB4B,non_coding_transcript_exon_variant,,ENST00000598430,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000596216,;RAB4B,downstream_gene_variant,,ENST00000600078,;							LOW	444/642		RAB4B_HUMAN			Transcript			.	ENSP00000349560		CCDS33030.1			1	
NOD1	0	LGGM	GRCh37	7	30491380	30491380	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	35	3	.	.	ENST00000222823.4:c.1653G>T	p.Ala551=	p.A551=	ENST00000222823	NM_006092.2	551	gcG/gcT	0	1	1	UPI00000375EE	0		ENST00000222823		ENSG00000106100	16390		38			HGNC	p.A551A	COSM3028190	NOD1		SNV						1	ENST00000434755	protein_coding			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF18		A		A		2179/4499				Q7Z2K1_HUMAN,C9J8X8_HUMAN			YES	NOD1,synonymous_variant,p.=,ENST00000222823,NM_006092.2;NOD1,downstream_gene_variant,,ENST00000423334,;NOD1,downstream_gene_variant,,ENST00000411552,;NOD1,downstream_gene_variant,,ENST00000419799,;NOD1,downstream_gene_variant,,ENST00000413433,;NOD1,synonymous_variant,p.=,ENST00000434755,;NOD1,upstream_gene_variant,,ENST00000489614,;					1		LOW	1653/2862		NOD1_HUMAN			Transcript			.	ENSP00000222823		CCDS5427.1			1	
PMS2	0	LGGM	GRCh37	7	6017285	6017285	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	30	3	.	.	ENST00000265849.7:c.2379C>T	p.Ser793=	p.S793=	ENST00000265849	NM_000535.5	793	agC/agT	0	1	1	UPI000013D696	0		ENST00000265849		ENSG00000122512	9122		33			HGNC	p.S746S		PMS2		SNV			1				ENST00000382322	protein_coding			Superfamily_domains:0050888,SMART_domains:SM00853,Pfam_domain:PF08676,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9		S		A		2485/2855							YES	PMS2,synonymous_variant,p.=,ENST00000265849,NM_000535.5;PMS2,synonymous_variant,p.=,ENST00000441476,;PMS2,synonymous_variant,p.=,ENST00000382321,;PMS2,downstream_gene_variant,,ENST00000406569,;							LOW	2379/2589		PMS2_HUMAN			Transcript			.	ENSP00000265849		CCDS5343.1			1	
ZAN	0	LGGM	GRCh37	7	100392853	100392853	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	17	3	.	.	ENST00000546292.1:c.7885G>T	p.Gly2629Trp	p.G2629W	ENST00000546292	NM_173059.1	2629	Ggg/Tgg	0	1	1	UPI00004575C6	0		ENST00000546292		ENSG00000146839	12857		20			HGNC	p.G1092W	rs369009637	ZAN		SNV	T:0.0003			0.000128			ENST00000546213	protein_coding			Superfamily_domains:SSF57196,SMART_domains:SM00181,Pfam_domain:PF00008,Gene3D:2.10.25.10,PROSITE_profiles:PS50026		G/W	T:0	T		8033/8375	0.00012			F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Gly2629Trp,ENST00000546292,NM_173059.1;ZAN,missense_variant,p.Gly1092Trp,ENST00000546213,;ZAN,3_prime_UTR_variant,,ENST00000542585,NM_003386.1;ZAN,3_prime_UTR_variant,,ENST00000538115,;ZAN,synonymous_variant,p.=,ENST00000349350,;ZAN,synonymous_variant,p.=,ENST00000348028,;ZAN,3_prime_UTR_variant,,ENST00000427578,;ZAN,3_prime_UTR_variant,,ENST00000449052,;ZAN,3_prime_UTR_variant,,ENST00000443370,;ZAN,3_prime_UTR_variant,,ENST00000421100,;							MODERATE	7885/8163					Transcript		unknown(0)	.	ENSP00000445943	6.62E-05				1	
THEMIS2	0	LGGM	GRCh37	1	28209209	28209209	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	20	3	.	.	ENST00000373921.3:c.1374G>T	p.Val458=	p.V458=	ENST00000373921	NM_001105556.1	458	gtG/gtT	0	1	1	UPI00001A796C	0		ENST00000373921		ENSG00000130775	16839		23			HGNC	p.V329V		THEMIS2		SNV							ENST00000328928	protein_coding			hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF2,Pfam_domain:PF12736		V		T		1378/2687							YES	THEMIS2,synonymous_variant,p.=,ENST00000373921,NM_001105556.1;THEMIS2,synonymous_variant,p.=,ENST00000328928,NM_001286113.1;THEMIS2,synonymous_variant,p.=,ENST00000456990,;THEMIS2,intron_variant,,ENST00000373925,NM_004848.2;THEMIS2,intron_variant,,ENST00000373927,NM_001039477.1;THEMIS2,downstream_gene_variant,,ENST00000442118,;THEMIS2,downstream_gene_variant,,ENST00000427466,;THEMIS2,non_coding_transcript_exon_variant,,ENST00000467258,;THEMIS2,non_coding_transcript_exon_variant,,ENST00000482828,;THEMIS2,upstream_gene_variant,,ENST00000492877,;THEMIS2,downstream_gene_variant,,ENST00000466068,;							LOW	1374/1932		THMS2_HUMAN			Transcript			.	ENSP00000363031		CCDS41290.1			1	
KY	0	LGGM	GRCh37	3	134339614	134339614	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	18	3	.	.	ENST00000423778.2:c.569G>T	p.Trp190Leu	p.W190L	ENST00000423778	NM_178554.4	190	tGg/tTg	0	1	1	UPI0000EE2109	0	NA	ENST00000423778		ENSG00000174611	26576		21	1.305		HGNC	p.W190L		KY		SNV							ENST00000503669	protein_coding	getma.org/?cm=var&var=hg19,3,134339614,C,A&fts=all		hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31,Pfam_domain:PF01841,Superfamily_domains:SSF54001		W/L		A	low	631/2345		getma.org/?cm=msa&ty=f&p=KY_HUMAN&rb=169&re=283&var=W190L	deleterious(0)				YES	KY,missense_variant,p.Trp169Leu,ENST00000508956,;KY,missense_variant,p.Trp190Leu,ENST00000423778,NM_178554.4;KY,missense_variant,p.Trp190Leu,ENST00000503669,;EPHB1,intron_variant,,ENST00000460895,;KY,non_coding_transcript_exon_variant,,ENST00000508041,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;							MODERATE	569/1986	W190L	KY_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000397598		CCDS46920.1			1	
ATP9B	0	LGGM	GRCh37	18	77105521	77105521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	26	3	.	.	ENST00000426216.2:c.2566C>A	p.Arg856Ser	p.R856S	ENST00000426216	NM_198531.3	856	Cgc/Agc	0	1	1	UPI00002371AF	0	getma.org/pdb.php?prot=ATP9B_HUMAN&from=464&to=886&var=R856S	ENST00000426216		ENSG00000166377	13541		29	-0.135		HGNC	p.R856S		ATP9B		SNV							ENST00000426216	protein_coding	getma.org/?cm=var&var=hg19,18,77105521,C,A&fts=all		hmmpanther:PTHR24092:SF50,hmmpanther:PTHR24092,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784		R/S		A	neutral	2583/4361		getma.org/?cm=msa&ty=f&p=ATP9B_HUMAN&rb=464&re=886&var=R856S	tolerated(0.06)				YES	ATP9B,missense_variant,p.Arg856Ser,ENST00000426216,NM_198531.3;ATP9B,missense_variant,p.Arg856Ser,ENST00000307671,;ATP9B,missense_variant,p.Arg177Ser,ENST00000543761,;RP11-800A18.4,upstream_gene_variant,,ENST00000592906,;ATP9B,missense_variant,p.Arg41Ser,ENST00000590477,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;ATP9B,non_coding_transcript_exon_variant,,ENST00000586774,;ATP9B,upstream_gene_variant,,ENST00000588921,;ATP9B,upstream_gene_variant,,ENST00000589951,;ATP9B,downstream_gene_variant,,ENST00000588895,;							MODERATE	2566/3444	R856S	ATP9B_HUMAN			Transcript		benign(0.008)	.	ENSP00000398076		CCDS12014.1			1	
C15orf52	0	LGGM	GRCh37	15	40631097	40631097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	45	3	.	.	ENST00000559313.1:c.371G>T	p.Arg124Leu	p.R124L	ENST00000559313	NM_207380.2	124	cGg/cTg	0	1	1	UPI00001C0AEA	0	NA	ENST00000559313		ENSG00000188549	33488		48	2.125		HGNC	p.R124L		C15orf52		SNV							ENST00000559313	protein_coding	getma.org/?cm=var&var=hg19,15,40631097,C,A&fts=all		hmmpanther:PTHR15635,hmmpanther:PTHR15635:SF10		R/L		A	medium	387/3022		getma.org/?cm=msa&ty=f&p=CO052_HUMAN&rb=61&re=367&var=R124L	deleterious(0)	H0YM82_HUMAN,H0YK65_HUMAN			YES	C15orf52,missense_variant,p.Arg124Leu,ENST00000559313,NM_207380.2;C15orf52,missense_variant,p.Arg68Leu,ENST00000560922,;C15orf52,upstream_gene_variant,,ENST00000397536,;C15orf52,upstream_gene_variant,,ENST00000558858,;C15orf52,downstream_gene_variant,,ENST00000557973,;C15orf52,non_coding_transcript_exon_variant,,ENST00000382688,;C15orf52,non_coding_transcript_exon_variant,,ENST00000558912,;							MODERATE	371/1605	R124L	CO052_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000453969		CCDS10055.2			1	
GMPPA	0	LGGM	GRCh37	2	220370083	220370083	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	19	3	.	.	ENST00000358215.3:c.754G>T	p.Gly252Cys	p.G252C	ENST00000358215	NM_205847.2	252	Ggt/Tgt	0	1		UPI000006D41C	0	NA	ENST00000313597		ENSG00000144591	22923		22	2.9		HGNC	p.G252C		GMPPA		SNV			1				ENST00000373917	protein_coding	getma.org/?cm=var&var=hg19,2,220370083,G,T&fts=all		Gene3D:3.90.550.10,hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF85,Superfamily_domains:SSF53448		G/C		T	medium	846/1544		getma.org/?cm=msa&ty=f&p=GMPPA_HUMAN&rb=210&re=285&var=G252C	deleterious(0)	C9JAH0_HUMAN,C9J255_HUMAN				GMPPA,missense_variant,p.Gly252Cys,ENST00000358215,NM_205847.2;GMPPA,missense_variant,p.Gly252Cys,ENST00000373917,;GMPPA,missense_variant,p.Gly252Cys,ENST00000313597,NM_013335.3;GMPPA,missense_variant,p.Gly252Cys,ENST00000341142,;GMPPA,missense_variant,p.Gly252Cys,ENST00000373908,;GMPPA,missense_variant,p.Gly217Cys,ENST00000435316,;GMPPA,downstream_gene_variant,,ENST00000455657,;AC053503.11,intron_variant,,ENST00000429882,;GMPPA,missense_variant,p.Gly252Cys,ENST00000443704,;GMPPA,non_coding_transcript_exon_variant,,ENST00000481170,;GMPPA,downstream_gene_variant,,ENST00000480506,;GMPPA,upstream_gene_variant,,ENST00000480034,;GMPPA,upstream_gene_variant,,ENST00000496536,;							MODERATE	754/1263	G252C	GMPPA_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000315925		CCDS2441.1			1	
OBSCN	0	LGGM	GRCh37	1	228559520	228559520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	30	3	.	.	ENST00000570156.2:c.23912C>A	p.Pro7971Gln	p.P7971Q	ENST00000570156	NM_001271223.2	7971	cCa/cAa	0	1		UPI0001838884	0	NA	ENST00000422127		ENSG00000154358	15719		33	0.345		HGNC	p.P7726Q		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228559520,C,A&fts=all		hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897		P/Q		A	neutral	21085/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=6922&re=7121&var=P7014Q						OBSCN,missense_variant,p.Pro7971Gln,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Pro4648Gln,ENST00000366707,;OBSCN,missense_variant,p.Pro7014Gln,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Pro1631Gln,ENST00000441106,;							MODERATE	21041/23907	P7014Q	OBSCN_HUMAN			Transcript		benign(0.073)	.	ENSP00000409493		CCDS58065.1			1	
PCDHB10	0	LGGM	GRCh37	5	140574111	140574111	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	20	3	.	.	ENST00000239446.4:c.1986G>T	p.Leu662=	p.L662=	ENST00000239446	NM_018930.3	662	ctG/ctT	0	1	1	UPI0000048F2E	0		ENST00000239446		ENSG00000120324	8681		23			HGNC	p.L662L		PCDHB10		SNV							ENST00000239446	protein_coding			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		T		2170/3274				O95883_HUMAN			YES	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							LOW	1986/2403		PCDBA_HUMAN			Transcript			.	ENSP00000239446		CCDS4252.1			1	
COL7A1	0	LGGM	GRCh37	3	48605170	48605170	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	46	3	.	.	ENST00000328333.8:c.7956C>A	p.Pro2652=	p.P2652=	ENST00000328333	NM_000094.3	2652	ccC/ccA	0	1	1	UPI0000126D20	0		ENST00000328333		ENSG00000114270	2214		49			HGNC	p.P2652P		COL7A1		SNV			1				ENST00000328333	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023		P		T		8064/9276							YES	COL7A1,synonymous_variant,p.=,ENST00000328333,NM_000094.3;COL7A1,synonymous_variant,p.=,ENST00000454817,;UCN2,upstream_gene_variant,,ENST00000273610,NM_033199.3;COL7A1,downstream_gene_variant,,ENST00000422991,;COL7A1,upstream_gene_variant,,ENST00000470076,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,non_coding_transcript_exon_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000466591,;COL7A1,upstream_gene_variant,,ENST00000474432,;COL7A1,downstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000465238,;COL7A1,downstream_gene_variant,,ENST00000462475,;							LOW	7956/8835		CO7A1_HUMAN			Transcript			.	ENSP00000332371		CCDS2773.1			1	
ANO9	0	LGGM	GRCh37	11	428192	428192	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	18	3	.	.	ENST00000332826.6:c.1230C>A	p.Pro410=	p.P410=	ENST00000332826	NM_001012302.2	410	ccC/ccA	0	1	1	UPI00001D782B	0		ENST00000332826		ENSG00000185101	20679		21			HGNC	p.P410P		ANO9		SNV							ENST00000332826	protein_coding			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF27		P		T		1315/2542							YES	ANO9,synonymous_variant,p.=,ENST00000332826,NM_001012302.2;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,;ANO9,downstream_gene_variant,,ENST00000525857,;							LOW	1230/2349		ANO9_HUMAN			Transcript			.	ENSP00000332788		CCDS31326.1			1	
TOP3A	0	LGGM	GRCh37	17	18193962	18193962	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	16	3	.	.	ENST00000321105.5:c.1506C>A	p.Pro502=	p.P502=	ENST00000321105	NM_004618.3	502	ccC/ccA	0	1	1	UPI00001371A0	0		ENST00000321105		ENSG00000177302	11992		19			HGNC	p.P477P		TOP3A		SNV							ENST00000580095	protein_coding			hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Gene3D:2.70.20.10,Pfam_domain:PF01131,SMART_domains:SM00437,Superfamily_domains:SSF56712		P		T		1721/4056				B4DSJ0_HUMAN,A8K398_HUMAN			YES	TOP3A,synonymous_variant,p.=,ENST00000321105,NM_004618.3;TOP3A,synonymous_variant,p.=,ENST00000542570,;TOP3A,synonymous_variant,p.=,ENST00000580095,;TOP3A,synonymous_variant,p.=,ENST00000540524,;TOP3A,synonymous_variant,p.=,ENST00000582122,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,3_prime_UTR_variant,,ENST00000581536,;TOP3A,non_coding_transcript_exon_variant,,ENST00000583804,;TOP3A,intron_variant,,ENST00000469739,;							LOW	1506/3006		TOP3A_HUMAN			Transcript			.	ENSP00000321636		CCDS11194.1			1	
GPLD1	0	LGGM	GRCh37	6	24429295	24429295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	35	3	.	.	ENST00000230036.1:c.2488G>T	p.Gly830Trp	p.G830W	ENST00000230036	NM_001503.3	830	Ggg/Tgg	0	1	1	UPI000013C91C	0	NA	ENST00000230036		ENSG00000112293	4459		38	2.38		HGNC	p.G830W		GPLD1		SNV							ENST00000230036	protein_coding	getma.org/?cm=var&var=hg19,6,24429295,C,A&fts=all		PROSITE_profiles:PS51470,hmmpanther:PTHR23221:SF7,hmmpanther:PTHR23221		G/W		A	medium	2599/3489		getma.org/?cm=msa&ty=f&p=PHLD_HUMAN&rb=751&re=840&var=G830W	deleterious(0)				YES	GPLD1,missense_variant,p.Gly830Trp,ENST00000230036,NM_001503.3;MRS2,downstream_gene_variant,,ENST00000378386,NM_020662.2;MRS2,downstream_gene_variant,,ENST00000274747,;GPLD1,non_coding_transcript_exon_variant,,ENST00000492917,;							MODERATE	2488/2523	G830W	PHLD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000230036		CCDS4553.1			1	
DUOX1	0	LGGM	GRCh37	15	45444704	45444704	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	23	3	.	.	ENST00000321429.4:c.3414C>A	p.Ile1138=	p.I1138=	ENST00000321429	NM_017434.3	1138	atC/atA	0	1	1	UPI000006E50E	0		ENST00000321429		ENSG00000137857	3062		26			HGNC	p.I1138I		DUOX1		SNV							ENST00000389037	protein_coding			hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Pfam_domain:PF01794		I		A		3821/5738				H0YNR5_HUMAN			YES	DUOX1,synonymous_variant,p.=,ENST00000321429,NM_017434.3;DUOX1,synonymous_variant,p.=,ENST00000389037,NM_175940.1;DUOX1,synonymous_variant,p.=,ENST00000561166,;CTD-2651B20.1,downstream_gene_variant,,ENST00000558039,;DUOX1,non_coding_transcript_exon_variant,,ENST00000559221,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000557893,;DUOX1,non_coding_transcript_exon_variant,,ENST00000559716,;DUOX1,downstream_gene_variant,,ENST00000558446,;DUOX1,downstream_gene_variant,,ENST00000559219,;DUOX1,upstream_gene_variant,,ENST00000558744,;							LOW	3414/4656		DUOX1_HUMAN			Transcript			.	ENSP00000317997		CCDS32221.1			1	
ENTREP2	0	LGGM	GRCh37	15	29428636	29428636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	21	3	.	.	ENST00000261275.4:c.860G>T	p.Gly287Val	p.G287V	ENST00000261275	NM_015307.1	287	gGc/gTc	0	1	1	UPI0001641C10	0	NA	ENST00000261275		ENSG00000104059	29075		24	1.59		HGNC	p.G287V		FAM189A1		SNV							ENST00000261275	protein_coding	getma.org/?cm=var&var=hg19,15,29428636,C,A&fts=all		hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6		G/V		A	low	860/4705		getma.org/?cm=msa&ty=f&p=F1891_HUMAN&rb=200&re=399&var=G287V	tolerated(0.05)	H0YKM1_HUMAN			YES	FAM189A1,missense_variant,p.Gly287Val,ENST00000261275,NM_015307.1;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;							MODERATE	860/1620	G287V	F1891_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000261275		CCDS45198.1			1	
ELOVL5	0	LGGM	GRCh37	6	53135489	53135489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	33	3	.	.	ENST00000541407.1:c.739G>T	p.Gly247Trp	p.G247W	ENST00000541407		247	Ggg/Tgg	0	1		UPI0000051C67	0		ENST00000304434		ENSG00000012660	21308		36			HGNC	p.G220W		ELOVL5		SNV			1				ENST00000542638	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF18,Pfam_domain:PF01151		G/W		A		857/2827			deleterious(0)					ELOVL5,missense_variant,p.Gly220Trp,ENST00000542638,;ELOVL5,missense_variant,p.Gly210Trp,ENST00000370918,NM_001242830.1,NM_021814.4,NM_001242828.1;ELOVL5,missense_variant,p.Gly220Trp,ENST00000304434,;ELOVL5,missense_variant,p.Gly247Trp,ENST00000541407,;ELOVL5,downstream_gene_variant,,ENST00000485336,;							MODERATE	658/900		ELOV5_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000306640		CCDS4951.1			1	
FAM129C	0	LGGM	GRCh37	19	17644408	17644408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	47	3	.	.	ENST00000335393.4:c.418G>T	p.Gly140Trp	p.G140W	ENST00000335393	NM_173544.4	140	Ggg/Tgg	0	1	1	UPI0000246FFF	0	NA	ENST00000335393		ENSG00000167483	24130		50	2.3		HGNC	p.G140W	COSM1251742,COSM1251743	FAM129C		SNV						1,1	ENST00000332386	protein_coding	getma.org/?cm=var&var=hg19,19,17644408,G,T&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		G/W		T	medium	556/2508		getma.org/?cm=msa&ty=f&p=NIBL2_HUMAN&rb=1&re=619&var=G140W	deleterious(0)	M0R0E0_HUMAN,B4DNU3_HUMAN			YES	FAM129C,missense_variant,p.Gly140Trp,ENST00000335393,NM_173544.4;FAM129C,missense_variant,p.Gly140Trp,ENST00000595684,;FAM129C,missense_variant,p.Gly140Trp,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Gly109Trp,ENST00000601861,;FAM129C,missense_variant,p.Gly140Trp,ENST00000352727,;FAM129C,missense_variant,p.Gly109Trp,ENST00000599164,;FAM129C,missense_variant,p.Gly140Trp,ENST00000300971,;FAM129C,missense_variant,p.Gly109Trp,ENST00000599124,;FAM129C,missense_variant,p.Gly86Trp,ENST00000600871,;FAM129C,5_prime_UTR_variant,,ENST00000449408,;FAM129C,non_coding_transcript_exon_variant,,ENST00000597887,;FAM129C,missense_variant,p.Gly109Trp,ENST00000600519,;FAM129C,non_coding_transcript_exon_variant,,ENST00000599819,;					1,1		MODERATE	418/2094	G140W	NIBL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335040		CCDS12362.1			1	
SH3KBP1	0	LGGM	GRCh37	X	19663587	19663587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	46	3	.	.	ENST00000397821.3:c.733G>T	p.Gly245Trp	p.G245W	ENST00000397821	NM_031892.2	245	Ggg/Tgg	0	1	1	UPI000006CC82	0	NA	ENST00000397821		ENSG00000147010	13867		49	1.78		HGNC	p.G245W		SH3KBP1		SNV							ENST00000397821	protein_coding	getma.org/?cm=var&var=hg19,X,19663587,C,A&fts=all		hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF6		G/W		A	low	1024/4731		getma.org/?cm=msa&ty=f&p=SH3K1_HUMAN&rb=156&re=270&var=G245W	deleterious(0.01)	Q5JPT6_HUMAN,B7Z6E8_HUMAN			YES	SH3KBP1,missense_variant,p.Gly245Trp,ENST00000397821,NM_031892.2;SH3KBP1,missense_variant,p.Gly7Trp,ENST00000379716,NM_001184960.1;SH3KBP1,missense_variant,p.Gly208Trp,ENST00000379698,NM_001024666.2;SH3KBP1,missense_variant,p.Gly289Trp,ENST00000379697,;SH3KBP1,missense_variant,p.Gly225Trp,ENST00000379726,;SH3KBP1,missense_variant,p.Gly192Trp,ENST00000432234,;SH3KBP1,5_prime_UTR_variant,,ENST00000541422,;SH3KBP1,non_coding_transcript_exon_variant,,ENST00000477102,;SH3KBP1,intron_variant,,ENST00000494961,;							MODERATE	733/1998	G245W	SH3K1_HUMAN			Transcript		benign(0.241)	.	ENSP00000380921		CCDS14193.1			1	
C17orf62	0	LGGM	GRCh37	17	80401681	80401681	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	26	3	.	.	ENST00000437807.2:c.*199C>A		*67*	ENST00000437807	NM_001193653.1			0	1		UPI000006FDD3	0		ENST00000306645		ENSG00000178927	28672		29			HGNC	p.P154Q		C17orf62		SNV							ENST00000583617	protein_coding							T		931/2093				J3QRZ2_HUMAN,J3QLB7_HUMAN,J3QKS6_HUMAN,H0Y2X1_HUMAN				C17orf62,missense_variant,p.Pro154Gln,ENST00000583617,;C17orf62,synonymous_variant,p.=,ENST00000336995,;C17orf62,3_prime_UTR_variant,,ENST00000437807,NM_001193653.1,NM_001193657.1;C17orf62,3_prime_UTR_variant,,ENST00000306645,NM_001033046.3,NM_001100407.2,NM_001193654.1;C17orf62,3_prime_UTR_variant,,ENST00000434650,NM_001100408.2;C17orf62,3_prime_UTR_variant,,ENST00000342572,;C17orf62,3_prime_UTR_variant,,ENST00000577436,;C17orf62,intron_variant,,ENST00000582438,;C17orf62,intron_variant,,ENST00000579751,;HEXDC,downstream_gene_variant,,ENST00000337014,NM_173620.2;HEXDC,downstream_gene_variant,,ENST00000577944,;HEXDC,downstream_gene_variant,,ENST00000327949,;C17orf62,downstream_gene_variant,,ENST00000585064,;C17orf62,downstream_gene_variant,,ENST00000577732,NM_001193655.1;HEXDC,downstream_gene_variant,,ENST00000578130,;C17orf62,downstream_gene_variant,,ENST00000578919,;C17orf62,downstream_gene_variant,,ENST00000585080,;C17orf62,downstream_gene_variant,,ENST00000577696,;C17orf62,downstream_gene_variant,,ENST00000577471,;C17orf62,downstream_gene_variant,,ENST00000578913,;C17orf62,downstream_gene_variant,,ENST00000577834,;C17orf62,downstream_gene_variant,,ENST00000582545,;C17orf62,downstream_gene_variant,,ENST00000583359,;C17orf62,downstream_gene_variant,,ENST00000581196,;C17orf62,downstream_gene_variant,,ENST00000584503,;C17orf62,downstream_gene_variant,,ENST00000580560,;C17orf62,downstream_gene_variant,,ENST00000584891,;C17orf62,3_prime_UTR_variant,,ENST00000584024,;C17orf62,3_prime_UTR_variant,,ENST00000582725,;C17orf62,non_coding_transcript_exon_variant,,ENST00000585044,;C17orf62,non_coding_transcript_exon_variant,,ENST00000578895,;C17orf62,non_coding_transcript_exon_variant,,ENST00000536759,;HEXDC,downstream_gene_variant,,ENST00000582429,;HEXDC,downstream_gene_variant,,ENST00000585077,;C17orf62,downstream_gene_variant,,ENST00000578941,;HEXDC,downstream_gene_variant,,ENST00000582131,;HEXDC,downstream_gene_variant,,ENST00000578616,;HEXDC,downstream_gene_variant,,ENST00000583354,;C17orf62,downstream_gene_variant,,ENST00000577888,;C17orf62,downstream_gene_variant,,ENST00000582395,;C17orf62,downstream_gene_variant,,ENST00000582608,;C17orf62,downstream_gene_variant,,ENST00000578064,;C17orf62,downstream_gene_variant,,ENST00000577707,;C17orf62,downstream_gene_variant,,ENST00000584408,;C17orf62,downstream_gene_variant,,ENST00000579444,;							MODIFIER	-/564		CQ062_HUMAN			Transcript			.	ENSP00000307765		CCDS32776.1			1	
NBEAL1	0	LGGM	GRCh37	2	204002908	204002908	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	94	4	.	.	ENST00000449802.1:c.4502G>T	p.Trp1501Leu	p.W1501L	ENST00000449802	NM_001114132.1	1501	tGg/tTg	0	1	1	UPI000194EC27	0	NA	ENST00000449802		ENSG00000144426	20681		98	1.995		HGNC	p.W1501L		NBEAL1		SNV							ENST00000449802	protein_coding	getma.org/?cm=var&var=hg19,2,204002908,G,T&fts=all		hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743		W/L		T	medium	4835/10938		getma.org/?cm=msa&ty=f&p=NBEL1_HUMAN&rb=1402&re=1601&var=W1501L	tolerated(0.09)				YES	NBEAL1,missense_variant,p.Trp1501Leu,ENST00000449802,NM_001114132.1;							MODERATE	4502/8085	W1501L	NBEL1_HUMAN			Transcript		benign(0.26)	.	ENSP00000399903		CCDS46495.1			1	
RAET1E	0	LGGM	GRCh37	6	150211962	150211962	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	21	4	.	.	ENST00000357183.4:c.76A>T	p.Ile26Phe	p.I26F	ENST00000357183	NM_139165.2	26	Atc/Ttc	0	1	1	UPI0000071E77	0	NA	ENST00000357183		ENSG00000164520	16793		25	0.69		HGNC	p.I26F		RAET1E		SNV							ENST00000529948	protein_coding	getma.org/?cm=var&var=hg19,6,150211962,T,A&fts=all		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF64,Transmembrane_helices:TMhelix		I/F		A	neutral	209/958		getma.org/?cm=msa&ty=f&p=N2DL4_HUMAN&rb=1&re=58&var=I26F	tolerated(0.17)	I2GUA6_HUMAN,E9PKJ6_HUMAN			YES	RAET1E,missense_variant,p.Ile26Phe,ENST00000532335,NM_001243328.1;RAET1E,missense_variant,p.Ile26Phe,ENST00000357183,NM_139165.2;RAET1E,missense_variant,p.Ile26Phe,ENST00000529948,NM_001243327.1;RAET1E,missense_variant,p.Ile26Phe,ENST00000367363,NM_001243325.1;RAET1E,missense_variant,p.Ile26Phe,ENST00000531073,;RP11-244K5.8,intron_variant,,ENST00000606915,;RAET1E-AS1,intron_variant,,ENST00000446954,;RAET1E-AS1,intron_variant,,ENST00000605899,;RAET1E,downstream_gene_variant,,ENST00000524905,;RAET1E,missense_variant,p.Ile26Phe,ENST00000392270,;							MODERATE	76/792	I26F	N2DL4_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000349709		CCDS5221.1			1	
ADAMTS12	0	LGGM	GRCh37	5	33535092	33535092	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	44	4	.	.	ENST00000504830.1:c.4452C>T	p.Ser1484=	p.S1484=	ENST00000504830	NM_030955.2	1484	tcC/tcT	0	1	1	UPI000013DC51	0		ENST00000504830		ENSG00000151388	14605		48			HGNC	p.S1484S		ADAMTS12		SNV							ENST00000504830	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		S		A		4788/8774							YES	ADAMTS12,synonymous_variant,p.=,ENST00000504830,NM_030955.2;ADAMTS12,synonymous_variant,p.=,ENST00000352040,;							LOW	4452/4785		ATS12_HUMAN			Transcript			.	ENSP00000422554		CCDS34140.1			1	
GTF3C1	0	LGGM	GRCh37	16	27512582	27512582	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	31	4	.	.	ENST00000356183.4:c.1991G>C	p.Arg664Pro	p.R664P	ENST00000356183	NM_001520.3	664	cGg/cCg	0	1	1	UPI00001FF123	0	NA	ENST00000356183		ENSG00000077235	4664		35	1.87		HGNC	p.R664P		GTF3C1		SNV							ENST00000356183	protein_coding	getma.org/?cm=var&var=hg19,16,27512582,C,G&fts=all		hmmpanther:PTHR15180		R/P		G	low	2007/7018		getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=602&re=2107&var=R664P	deleterious(0.01)	Q7Z7H4_HUMAN,I3L1Z3_HUMAN			YES	GTF3C1,missense_variant,p.Arg664Pro,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Arg664Pro,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;							MODERATE	1991/6330	R664P	TF3C1_HUMAN			Transcript		possibly_damaging(0.604)	.	ENSP00000348510		CCDS32414.1			1	
EYS	0	LGGM	GRCh37	6	65612097	65612097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	59	4	.	.	ENST00000503581.1:c.2755G>T	p.Gly919Trp	p.G919W	ENST00000503581	NM_001142800.1	919	Ggg/Tgg	0	1		UPI0001AE72B3	0	getma.org/pdb.php?prot=EYS_HUMAN&from=890&to=926&var=G919W	ENST00000370616		ENSG00000188107	21555		63	4.25		HGNC	p.G919W		EYS		SNV			1				ENST00000370621	protein_coding	getma.org/?cm=var&var=hg19,6,65612097,C,A&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65,PROSITE_profiles:PS50026		G/W		A	high	2755/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=890&re=926&var=G919W	deleterious(0)					EYS,missense_variant,p.Gly919Trp,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Gly919Trp,ENST00000370621,;EYS,missense_variant,p.Gly919Trp,ENST00000370616,;							MODERATE	2755/9498	G919W	EYS_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000359650					1	
MBD6	0	LGGM	GRCh37	12	57921358	57921358	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	89	4	.	.	ENST00000355673.3:c.2151G>T	p.Pro717=	p.P717=	ENST00000355673	NM_052897.3	717	ccG/ccT	0	1	1	UPI000012ED13	0		ENST00000355673		ENSG00000166987	20445		93			HGNC	p.P717P		MBD6		SNV							ENST00000431731	protein_coding			hmmpanther:PTHR16112		P		T		2507/4282				F8VZD7_HUMAN,F8VVK7_HUMAN,F8VU14_HUMAN,F8VPC4_HUMAN,F8VNX1_HUMAN			YES	MBD6,synonymous_variant,p.=,ENST00000355673,NM_052897.3;MBD6,synonymous_variant,p.=,ENST00000431731,;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,,ENST00000546758,;MBD6,downstream_gene_variant,,ENST00000546632,;MBD6,downstream_gene_variant,,ENST00000546805,;MBD6,upstream_gene_variant,,ENST00000552163,;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,;MBD6,downstream_gene_variant,,ENST00000549231,;MBD6,synonymous_variant,p.=,ENST00000547545,;MBD6,non_coding_transcript_exon_variant,,ENST00000548550,;DCTN2,downstream_gene_variant,,ENST00000550201,;DCTN2,downstream_gene_variant,,ENST00000549394,;DCTN2,downstream_gene_variant,,ENST00000550988,;MBD6,downstream_gene_variant,,ENST00000549042,;MBD6,upstream_gene_variant,,ENST00000547844,;							LOW	2151/3012		MBD6_HUMAN			Transcript			.	ENSP00000347896		CCDS8944.1			1	
SGK3	0	LGGM	GRCh37	8	67706028	67706028	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	41	4	.	.	ENST00000396596.1:c.57C>A	p.Pro19=	p.P19=	ENST00000396596	NM_013257.4	19	ccC/ccA	0	1		UPI000013591F	0		ENST00000345714		ENSG00000104205	10812		45			HGNC	p.P19P		SGK3		SNV							ENST00000520976	protein_coding			PROSITE_profiles:PS50195,hmmpanther:PTHR24356:SF121,hmmpanther:PTHR24356,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268		P		A		180/4055				Q6FHV7_HUMAN,E5RK28_HUMAN,E5RJV7_HUMAN,E5RHR8_HUMAN				SGK3,synonymous_variant,p.=,ENST00000396596,NM_013257.4;SGK3,synonymous_variant,p.=,ENST00000345714,;SGK3,synonymous_variant,p.=,ENST00000521198,NM_001033578.2;SGK3,synonymous_variant,p.=,ENST00000522398,;C8orf44-SGK3,synonymous_variant,p.=,ENST00000519289,NM_001204173.1;SGK3,synonymous_variant,p.=,ENST00000520976,NM_170709.2;SGK3,synonymous_variant,p.=,ENST00000522629,;SGK3,synonymous_variant,p.=,ENST00000518388,;SGK3,intron_variant,,ENST00000521960,;C8orf44-SGK3,non_coding_transcript_exon_variant,,ENST00000520044,;SGK3,non_coding_transcript_exon_variant,,ENST00000523401,;							LOW	57/1491		SGK3_HUMAN			Transcript			.	ENSP00000331816		CCDS6195.1			1	
ZNF774	0	LGGM	GRCh37	15	90904028	90904028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	59	4	.	.	ENST00000354377.3:c.965C>A	p.Pro322Gln	p.P322Q	ENST00000354377	NM_001004309.2	322	cCg/cAg	0	1	1	UPI00001A73D8	0	getma.org/pdb.php?prot=ZN774_HUMAN&from=305&to=329&var=P322Q	ENST00000354377		ENSG00000196391	33108		63	1.075		HGNC	p.P322Q		ZNF774		SNV							ENST00000354377	protein_coding	getma.org/?cm=var&var=hg19,15,90904028,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF66,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		P/Q		A	low	1151/3202		getma.org/?cm=msa&ty=f&p=ZN774_HUMAN&rb=285&re=349&var=P322Q	tolerated(0.34)	H0YNW6_HUMAN			YES	ZNF774,missense_variant,p.Pro322Gln,ENST00000354377,NM_001004309.2;ZNF774,intron_variant,,ENST00000379090,;ZNF774,downstream_gene_variant,,ENST00000558586,;ZNF774,downstream_gene_variant,,ENST00000558115,;ZNF774,downstream_gene_variant,,ENST00000560038,;							MODERATE	965/1452	P322Q	ZN774_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000346348		CCDS32330.1			1	
SLC3A2	0	LGGM	GRCh37	11	62652661	62652661	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	62	4	.	.	ENST00000377891.2:c.1137G>T	p.Ala379=	p.A379=	ENST00000377891	NM_001012662.2	379	gcG/gcT	0	1		UPI000013E757	0		ENST00000377890		ENSG00000168003	11026		66			HGNC	p.A378A		SLC3A2		SNV							ENST00000377890	protein_coding			hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF12,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445		A		T		1302/2161				F5H867_HUMAN,F5H056_HUMAN,F5GZI0_HUMAN,B4E2Z3_HUMAN				SLC3A2,synonymous_variant,p.=,ENST00000377892,;SLC3A2,synonymous_variant,p.=,ENST00000377891,NM_001012662.2;SLC3A2,synonymous_variant,p.=,ENST00000377890,NM_002394.5;SLC3A2,synonymous_variant,p.=,ENST00000535296,;SLC3A2,synonymous_variant,p.=,ENST00000377889,NM_001012664.2;SLC3A2,synonymous_variant,p.=,ENST00000338663,NM_001013251.2;SLC3A2,synonymous_variant,p.=,ENST00000539507,;SLC3A2,5_prime_UTR_variant,,ENST00000536981,;SLC3A2,5_prime_UTR_variant,,ENST00000539891,;SLC3A2,downstream_gene_variant,,ENST00000538084,;SLC3A2,downstream_gene_variant,,ENST00000544377,;SLC3A2,downstream_gene_variant,,ENST00000539458,;SLC3A2,downstream_gene_variant,,ENST00000541372,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000538682,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000457660,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000537508,;SLC3A2,downstream_gene_variant,,ENST00000537839,;SLC3A2,downstream_gene_variant,,ENST00000546253,;SLC3A2,3_prime_UTR_variant,,ENST00000541425,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000542922,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000535768,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000546312,;SLC3A2,upstream_gene_variant,,ENST00000542793,;SLC3A2,downstream_gene_variant,,ENST00000541649,;							LOW	1134/1893		4F2_HUMAN			Transcript			.	ENSP00000367122		CCDS8039.2			1	
ZNF383	0	LGGM	GRCh37	19	37734000	37734000	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	53	4	.	.	ENST00000589413.1:c.862G>T	p.Gly288Trp	p.G288W	ENST00000589413		288	Ggg/Tgg	0	1		UPI00000717CC	0	getma.org/pdb.php?prot=ZN383_HUMAN&from=268&to=293&var=G288W	ENST00000352998		ENSG00000188283	18609		57	3.81		HGNC	p.G288W		ZNF383		SNV							ENST00000589413	protein_coding	getma.org/?cm=var&var=hg19,19,37734000,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF172,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	high	1120/1948		getma.org/?cm=msa&ty=f&p=ZN383_HUMAN&rb=248&re=313&var=G288W	deleterious(0)	K7EJN0_HUMAN,B3KRK0_HUMAN				ZNF383,missense_variant,p.Gly288Trp,ENST00000589413,;ZNF383,missense_variant,p.Gly288Trp,ENST00000352998,NM_152604.1;ZNF383,missense_variant,p.Gly288Trp,ENST00000590503,;ZNF383,downstream_gene_variant,,ENST00000588371,;ZNF383,non_coding_transcript_exon_variant,,ENST00000586068,;ZNF383,downstream_gene_variant,,ENST00000588250,;							MODERATE	862/1428	G288W	ZN383_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000340132		CCDS12501.1			1	
NFATC1	0	LGGM	GRCh37	18	77211803	77211803	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	14	4	.	.	ENST00000329101.4:c.1851G>T	p.Val617=	p.V617=	ENST00000329101	NM_172387.2	617	gtG/gtT	0	1		UPI000012FFB5	0		ENST00000427363		ENSG00000131196	7775		18			HGNC	p.W602L	rs776946080	NFATC1		SNV							ENST00000587635	protein_coding			hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296,Prints_domain:PR01789		V		T		1890/2832	1.53E-05			F5H4S8_HUMAN				NFATC1,missense_variant,p.Trp602Leu,ENST00000587635,;NFATC1,synonymous_variant,p.=,ENST00000253506,NM_006162.4,NM_001278670.1,NM_001278669.1;NFATC1,synonymous_variant,p.=,ENST00000329101,NM_172387.2;NFATC1,synonymous_variant,p.=,ENST00000318065,NM_001278672.1,NM_172389.2;NFATC1,synonymous_variant,p.=,ENST00000397790,NM_172388.2;NFATC1,synonymous_variant,p.=,ENST00000427363,;NFATC1,synonymous_variant,p.=,ENST00000591814,NM_172390.2;NFATC1,synonymous_variant,p.=,ENST00000592223,NM_001278675.1;NFATC1,synonymous_variant,p.=,ENST00000542384,;NFATC1,synonymous_variant,p.=,ENST00000586434,;NFATC1,synonymous_variant,p.=,ENST00000545796,NM_001278673.1;NFATC1,downstream_gene_variant,,ENST00000590224,;NFATC1,3_prime_UTR_variant,,ENST00000590313,;NFATC1,non_coding_transcript_exon_variant,,ENST00000591089,;NFATC1,downstream_gene_variant,,ENST00000591065,;							LOW	1890/2832		NFAC1_HUMAN			Transcript			.	ENSP00000389377	8.24E-06	CCDS62467.1			1	
EPHA4	0	LGGM	GRCh37	2	222365846	222365846	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	51	5	.	.	ENST00000281821.2:c.870T>C	p.Cys290=	p.C290=	ENST00000281821	NM_004438.3	290	tgT/tgC	0	1	1	UPI000012A077	0		ENST00000281821		ENSG00000116106	3388		56			HGNC	p.C239C		EPHA4		SNV							ENST00000392071	protein_coding			PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF25		C		G		912/6346				Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN			YES	EPHA4,synonymous_variant,p.=,ENST00000281821,NM_004438.3;EPHA4,synonymous_variant,p.=,ENST00000409854,;EPHA4,synonymous_variant,p.=,ENST00000409938,;EPHA4,synonymous_variant,p.=,ENST00000392071,;EPHA4,synonymous_variant,p.=,ENST00000441679,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;							LOW	870/2961		EPHA4_HUMAN			Transcript			.	ENSP00000281821		CCDS2447.1			1	
STIL	0	LGGM	GRCh37	1	47746102	47746102	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	88	5	.	.	ENST00000371877.3:c.2028C>A	p.Pro676=	p.P676=	ENST00000371877		676	ccC/ccA	0	1		UPI0000470133	0		ENST00000360380		ENSG00000123473	10879		93			HGNC	p.P676P		STIL		SNV			1				ENST00000371877	protein_coding			hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128		P		T		2392/5225				Q5T0D0_HUMAN				STIL,synonymous_variant,p.=,ENST00000360380,NM_001282936.1;STIL,synonymous_variant,p.=,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,synonymous_variant,p.=,ENST00000371877,;STIL,synonymous_variant,p.=,ENST00000243182,;STIL,synonymous_variant,p.=,ENST00000396221,NM_001282937.1;STIL,synonymous_variant,p.=,ENST00000447475,;STIL,intron_variant,,ENST00000436811,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;							LOW	2028/3864		STIL_HUMAN			Transcript			.	ENSP00000353544		CCDS548.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	14	20	.	.	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	1	1	UPI000012862F	0	NA	ENST00000349496	pathogenic	ENSG00000168036	2514		34	2.01		HGNC	p.S45F	rs121913409,COSM5667	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266137,C,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/F		T	medium	414/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S45F	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	134/2346	S45F	CTNB1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000344456		CCDS2694.1			1	
KLRG2	0	LGGM	GRCh37	7	139164900	139164900	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	14	6	.	.	ENST00000340940.4:c.851C>G	p.Ser284Ter	p.S284*	ENST00000340940	NM_198508.2	284	tCa/tGa	0	1	1	UPI00001C0C37	0	NA	ENST00000340940		ENSG00000188883	24778		20	0		HGNC	p.S284X		KLRG2		SNV							ENST00000340940	protein_coding	getma.org/?cm=var&var=hg19,7,139164900,G,C&fts=all		hmmpanther:PTHR22800:SF133,hmmpanther:PTHR22800,Gene3D:3.10.100.10,Superfamily_domains:SSF56436		S/*		C	NA	921/2197		NA					YES	KLRG2,stop_gained,p.Ser284Ter,ENST00000340940,NM_198508.2;KLRG2,intron_variant,,ENST00000393039,;							HIGH	851/1230	S284*	KLRG2_HUMAN			Transcript			.	ENSP00000339356		CCDS5854.1			1	
COBL	0	LGGM	GRCh37	7	51251881	51251881	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	13	6	.	.	ENST00000265136.7:c.701C>A	p.Ser234Ter	p.S234*	ENST00000265136	NM_015198.3	234	tCa/tAa	0	1	1	UPI00001A9480	0	NA	ENST00000265136		ENSG00000106078	22199		19	0		HGNC	p.S234X		COBL		SNV							ENST00000395540	protein_coding	getma.org/?cm=var&var=hg19,7,51251881,G,T&fts=all		Pfam_domain:PF09469,hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1		S/*		T	NA	867/5291		NA		C9J9X1_HUMAN			YES	COBL,stop_gained,p.Ser234Ter,ENST00000395542,;COBL,stop_gained,p.Ser234Ter,ENST00000265136,NM_015198.3;COBL,stop_gained,p.Ser37Ter,ENST00000431948,;COBL,stop_gained,p.Ser101Ter,ENST00000445054,;COBL,stop_gained,p.Ser234Ter,ENST00000441453,NM_001287438.1;COBL,stop_gained,p.Ser234Ter,ENST00000395540,;COBL,stop_gained,p.Ser153Ter,ENST00000452534,;							HIGH	701/3786	S234*	COBL_HUMAN			Transcript			.	ENSP00000265136		CCDS34637.1			1	
PRKCH	0	LGGM	GRCh37	14	61923921	61923921	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	15	6	.	.	ENST00000332981.5:c.988C>T	p.Arg330Ter	p.R330*	ENST00000332981	NM_006255.3	330	Cga/Tga	0	1	1	UPI0000073BBF	0	NA	ENST00000332981		ENSG00000027075	9403		21	0		HGNC	p.R330X		PRKCH		SNV			1				ENST00000332981	protein_coding	getma.org/?cm=var&var=hg19,14,61923921,C,T&fts=all		PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501107,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF51		R/*		T	NA	1373/3582		NA		G3V5U5_HUMAN,G3V5F8_HUMAN,G3V520_HUMAN,G3V4X4_HUMAN,G3V4Q9_HUMAN,G3V4Q6_HUMAN,G3V4L3_HUMAN,G3V4H0_HUMAN,G3V3E7_HUMAN,G3V304_HUMAN,B4DV01_HUMAN,B4DJN5_HUMAN			YES	PRKCH,stop_gained,p.Arg330Ter,ENST00000332981,NM_006255.3;PRKCH,stop_gained,p.Arg169Ter,ENST00000555082,;PRKCH,stop_gained,p.Arg169Ter,ENST00000557585,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,downstream_gene_variant,,ENST00000553726,;PRKCH,downstream_gene_variant,,ENST00000556778,;PRKCH,non_coding_transcript_exon_variant,,ENST00000553889,;PRKCH,non_coding_transcript_exon_variant,,ENST00000557559,;PRKCH,upstream_gene_variant,,ENST00000555604,;							HIGH	988/2052	R330*	KPCL_HUMAN			Transcript			.	ENSP00000329127		CCDS9752.1			1	
MT2A	0	LGGM	GRCh37	16	56642577	56642577	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	21	7	.	.	ENST00000245185.5:c.10A>T	p.Asn4Tyr	p.N4Y	ENST00000245185	NM_005953.3	4	Aac/Tac	0	1	1	UPI000012F71A	0		ENST00000245185		ENSG00000125148	7406		28			HGNC	p.N4Y		MT2A		SNV							ENST00000561491	protein_coding			Gene3D:4mt2A00,Pfam_domain:PF00131,hmmpanther:PTHR23299,Superfamily_domains:SSF57868		N/Y		T		467/786			deleterious(0)				YES	MT2A,missense_variant,p.Asn4Tyr,ENST00000245185,NM_005953.3;MT2A,missense_variant,p.Asn4Tyr,ENST00000561491,;RP11-249C24.10,downstream_gene_variant,,ENST00000569778,;MT2A,non_coding_transcript_exon_variant,,ENST00000563985,;MT2A,upstream_gene_variant,,ENST00000567300,;MT2A,non_coding_transcript_exon_variant,,ENST00000562017,;							MODERATE	10/186		MT2_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000245185		CCDS10763.1			1	
IGSF22	0	LGGM	GRCh37	11	18741806	18741806	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	52	7	.	.	ENST00000513874.1:c.405T>C	p.Ser135=	p.S135=	ENST00000513874	NM_173588.3	135	tcT/tcC	0	1		UPI0000DBEF33	0		ENST00000319338		ENSG00000179057	26750		59			HGNC	p.S135S		IGSF22		SNV							ENST00000319338	nonsense_mediated_decay			PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF53,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		S		G		595/3935								IGSF22,synonymous_variant,p.=,ENST00000513874,NM_173588.3;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,downstream_gene_variant,,ENST00000412229,;IGSF22,synonymous_variant,p.=,ENST00000319338,;IGSF22,non_coding_transcript_exon_variant,,ENST00000504981,;							LOW	405/2712		IGS22_HUMAN			Transcript			.	ENSP00000322422					1	
ARMC9	0	LGGM	GRCh37	2	232160925	232160925	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	42	7	.	.	ENST00000349938.4:c.1732G>A	p.Gly578Ser	p.G578S	ENST00000349938	NM_025139.4	578	Ggt/Agt	0	1	1	UPI00001AE7AC	0	NA	ENST00000349938		ENSG00000135931	20730		49	0		HGNC	p.G578S		ARMC9		SNV							ENST00000349938	protein_coding	getma.org/?cm=var&var=hg19,2,232160925,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14881,Gene3D:1.25.10.10		G/S		A	neutral	1926/2300		getma.org/?cm=msa&ty=f&p=ARMC9_HUMAN&rb=574&re=659&var=G578S	tolerated(0.78)	C9JW07_HUMAN			YES	ARMC9,missense_variant,p.Gly578Ser,ENST00000349938,NM_025139.4,NM_001271466.1;ARMC9,non_coding_transcript_exon_variant,,ENST00000483477,;ARMC9,3_prime_UTR_variant,,ENST00000428662,;ARMC9,non_coding_transcript_exon_variant,,ENST00000486787,;ARMC9,downstream_gene_variant,,ENST00000481520,;							MODERATE	1732/1998	G578S	ARMC9_HUMAN			Transcript		benign(0.01)	.	ENSP00000258417		CCDS2484.1			1	
GALNT13	0	LGGM	GRCh37	2	154997001	154997001	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	58	7	.	.	ENST00000392825.3:c.294A>G	p.Pro98=	p.P98=	ENST00000392825	NM_052917.2	98	ccA/ccG	0	1	1	UPI0000051E22	0		ENST00000392825		ENSG00000144278	23242		65			HGNC	p.P98P		GALNT13		SNV							ENST00000409237	protein_coding			Superfamily_domains:SSF53448,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21		P		G		861/5536				Q68VI8_HUMAN			YES	GALNT13,synonymous_variant,p.=,ENST00000392825,NM_052917.2;GALNT13,synonymous_variant,p.=,ENST00000409237,;GALNT13,synonymous_variant,p.=,ENST00000431076,;							LOW	294/1671		GLT13_HUMAN			Transcript			.	ENSP00000376570		CCDS2199.1			1	
RYR2	0	LGGM	GRCh37	1	237811784	237811784	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	84	8	.	.	ENST00000366574.2:c.7383C>A	p.Cys2461Ter	p.C2461*	ENST00000366574	NM_001035.2	2461	tgC/tgA	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		92	0		HGNC	p.C2445X		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237811784,C,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		C/*		A	NA	7700/16562		NA		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,stop_gained,p.Cys2461Ter,ENST00000366574,NM_001035.2;RYR2,stop_gained,p.Cys2445Ter,ENST00000542537,;RYR2,stop_gained,p.Cys2459Ter,ENST00000360064,;							HIGH	7383/14904	C2461*	RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
HIBCH	0	LGGM	GRCh37	2	191117012	191117012	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	49	8	.	.	ENST00000359678.5:c.539G>A	p.Gly180Glu	p.G180E	ENST00000359678	NM_198047.2	180	gGa/gAa	0	1	1	UPI000013F16E	0	getma.org/pdb.php?prot=HIBCH_HUMAN&from=1&to=200&var=G180E	ENST00000359678		ENSG00000198130	4908		57	3.565		HGNC	p.G180E		HIBCH		SNV			1				ENST00000392332	protein_coding	getma.org/?cm=var&var=hg19,2,191117012,C,T&fts=all		hmmpanther:PTHR11941:SF53,hmmpanther:PTHR11941,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		G/E		T	high	834/1939		getma.org/?cm=msa&ty=f&p=HIBCH_HUMAN&rb=1&re=200&var=G180E	deleterious(0)	B9A058_HUMAN			YES	HIBCH,missense_variant,p.Gly180Glu,ENST00000392332,;HIBCH,missense_variant,p.Gly180Glu,ENST00000359678,NM_198047.2,NM_014362.3;HIBCH,missense_variant,p.Gly234Glu,ENST00000409934,;HIBCH,upstream_gene_variant,,ENST00000410045,;HIBCH,upstream_gene_variant,,ENST00000409820,;HIBCH,non_coding_transcript_exon_variant,,ENST00000485992,;HIBCH,non_coding_transcript_exon_variant,,ENST00000489269,;HIBCH,missense_variant,p.Glu53Lys,ENST00000392333,;HIBCH,missense_variant,p.Gly4Glu,ENST00000414928,;							MODERATE	539/1161	G180E	HIBCH_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000352706		CCDS2304.1			1	
ACSM2B	0	LGGM	GRCh37	16	20554303	20554303	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	24	8	.	.	ENST00000329697.6:c.1442C>T	p.Ala481Val	p.A481V	ENST00000329697	NM_001105069.1	481	gCa/gTa	0	1	1	UPI00001AFAA7	0	getma.org/pdb.php?prot=ACS2B_HUMAN&from=82&to=493&var=A481V	ENST00000329697		ENSG00000066813	30931		32	0.805		HGNC	p.A481V		ACSM2B		SNV							ENST00000329697	protein_coding	getma.org/?cm=var&var=hg19,16,20554303,G,A&fts=all		Superfamily_domains:SSF56801,Pfam_domain:PF13193,Gene3D:3.30.300.30,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095		A/V		A	low	1611/2935		getma.org/?cm=msa&ty=f&p=ACS2B_HUMAN&rb=82&re=493&var=A481V	deleterious(0.02)	H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN			YES	ACSM2B,missense_variant,p.Ala481Val,ENST00000329697,NM_001105069.1;ACSM2B,missense_variant,p.Ala481Val,ENST00000565232,;ACSM2B,missense_variant,p.Ala481Val,ENST00000567001,NM_182617.3;ACSM2B,missense_variant,p.Ala402Val,ENST00000565322,;ACSM2B,intron_variant,,ENST00000568098,;ACSM2B,downstream_gene_variant,,ENST00000567288,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569131,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,upstream_gene_variant,,ENST00000564849,;							MODERATE	1442/1734	A481V	ACS2B_HUMAN			Transcript		benign(0.227)	.	ENSP00000327453		CCDS10586.1			1	
ANKRD35	0	LGGM	GRCh37	1	145561600	145561600	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	64	9	.	.	ENST00000355594.4:c.1288A>T	p.Ser430Cys	p.S430C	ENST00000355594	NM_144698.4	430	Agc/Tgc	0	1	1	UPI000013E1CE	0	NA	ENST00000355594		ENSG00000198483	26323		73	2.015		HGNC	p.S430C		ANKRD35		SNV							ENST00000355594	protein_coding	getma.org/?cm=var&var=hg19,1,145561600,A,T&fts=all		hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF14,Low_complexity_(Seg):seg		S/C		T	medium	1375/3342		getma.org/?cm=msa&ty=f&p=ANR35_HUMAN&rb=280&re=999&var=S430C	deleterious(0)				YES	ANKRD35,missense_variant,p.Ser430Cys,ENST00000355594,NM_144698.4;ANKRD35,downstream_gene_variant,,ENST00000544626,;							MODERATE	1288/3006	S430C	ANR35_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000347802		CCDS919.1			1	
FCGBP	0	LGGM	GRCh37	19	40368341	40368341	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	150	9	.	.	ENST00000221347.6:c.13007G>A	p.Gly4336Glu	p.G4336E	ENST00000221347	NM_003890.2	4336	gGg/gAg	0	1	1	UPI00001B0455	0	NA	ENST00000221347		ENSG00000090920	13572		159	2.88		HGNC	p.G4336E		FCGBP		SNV							ENST00000221347	protein_coding	getma.org/?cm=var&var=hg19,19,40368341,C,T&fts=all		hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832		G/E		T	medium	13015/16390		getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=4273&re=4349&var=G4336E					YES	FCGBP,missense_variant,p.Gly4336Glu,ENST00000221347,NM_003890.2;							MODERATE	13007/16218	G4336E	FCGBP_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000221347		CCDS12546.1			1	
ZFYVE21	0	LGGM	GRCh37	14	104198984	104198984	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	15	9	.	.	ENST00000216602.6:c.608T>C	p.Phe203Ser	p.F203S	ENST00000216602	NM_001198953.1	203	tTc/tCc	0	1		UPI000003B00F	0	getma.org/pdb.php?prot=ZFY21_HUMAN&from=105&to=234&var=F185S	ENST00000311141		ENSG00000100711	20760		24	-0.41		HGNC	p.F203S		ZFYVE21		SNV							ENST00000216602	protein_coding	getma.org/?cm=var&var=hg19,14,104198984,T,C&fts=all		hmmpanther:PTHR22835		F/S		C	neutral	588/1383		getma.org/?cm=msa&ty=f&p=ZFY21_HUMAN&rb=105&re=234&var=F185S	tolerated(0.76)					ZFYVE21,missense_variant,p.Phe203Ser,ENST00000216602,NM_001198953.1;ZFYVE21,missense_variant,p.Phe185Ser,ENST00000311141,NM_024071.3;PPP1R13B,downstream_gene_variant,,ENST00000202556,NM_015316.2;PPP1R13B,downstream_gene_variant,,ENST00000423488,;ZFYVE21,downstream_gene_variant,,ENST00000555163,;PPP1R13B,downstream_gene_variant,,ENST00000555391,;ZFYVE21,non_coding_transcript_exon_variant,,ENST00000555501,;ZFYVE21,non_coding_transcript_exon_variant,,ENST00000554757,;PPP1R13B,downstream_gene_variant,,ENST00000557082,;PPP1R13B,downstream_gene_variant,,ENST00000556597,;PPP1R13B,downstream_gene_variant,,ENST00000555825,;ZFYVE21,downstream_gene_variant,,ENST00000553724,;PPP1R13B,downstream_gene_variant,,ENST00000556334,;PPP1R13B,downstream_gene_variant,,ENST00000557587,;ZFYVE21,downstream_gene_variant,,ENST00000553512,;ZFYVE21,downstream_gene_variant,,ENST00000554255,;ZFYVE21,downstream_gene_variant,,ENST00000554630,;ZFYVE21,downstream_gene_variant,,ENST00000602552,;ZFYVE21,downstream_gene_variant,,ENST00000556795,;ZFYVE21,downstream_gene_variant,,ENST00000556610,;							MODERATE	554/705	F185S	ZFY21_HUMAN			Transcript		benign(0)	.	ENSP00000310543		CCDS9985.1			1	
GATA2	0	LGGM	GRCh37	3	128204850	128204850	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	9	10	.	.	ENST00000341105.2:c.591C>T	p.Ser197=	p.S197=	ENST00000341105	NM_032638.4	197	tcC/tcT	0	1	1	UPI00000730CD	0		ENST00000341105		ENSG00000179348	4171		19			HGNC	p.S197S		GATA2		SNV			1				ENST00000487848	protein_coding			PIRSF_domain:PIRSF003027,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF149,Low_complexity_(Seg):seg		S		A		923/3367				C9J965_HUMAN			YES	GATA2,synonymous_variant,p.=,ENST00000341105,NM_032638.4;GATA2,synonymous_variant,p.=,ENST00000430265,NM_001145662.1;GATA2,synonymous_variant,p.=,ENST00000487848,NM_001145661.1;GATA2,downstream_gene_variant,,ENST00000492608,;GATA2,downstream_gene_variant,,ENST00000498200,;RP11-475N22.4,upstream_gene_variant,,ENST00000468377,;RP11-475N22.4,upstream_gene_variant,,ENST00000464242,;RP11-475N22.4,upstream_gene_variant,,ENST00000473958,;GATA2,upstream_gene_variant,,ENST00000489987,;							LOW	591/1443		GATA2_HUMAN			Transcript			.	ENSP00000345681		CCDS3049.1			1	
OR51B2	0	LGGM	GRCh37	11	5345231	5345231	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	45	10	.	.	ENST00000328813.2:c.297T>A	p.Ala99=	p.A99=	ENST00000328813	NM_033180.4	99	gcT/gcA	0	1	1	UPI0000456470	0		ENST00000328813		ENSG00000184881	14703		55			HGNC	p.A99A		OR51B2		SNV							ENST00000328813	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF76,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		A		T		352/1042							YES	OR51B2,synonymous_variant,p.=,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,;							LOW	297/939		O51B2_HUMAN			Transcript			.	ENSP00000327540		CCDS31377.1			1	
ABCC6	0	LGGM	GRCh37	16	16271420	16271420	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	20	11	.	.	ENST00000205557.7:c.2479G>T	p.Ala827Ser	p.A827S	ENST00000205557	NM_001171.5	827	Gca/Tca	0	1	1	UPI00001AE5CA	0	getma.org/pdb.php?prot=MRP6_HUMAN&from=629&to=853&var=A827S	ENST00000205557		ENSG00000091262	57		31	-0.38		HGNC	p.A827S		ABCC6		SNV			1				ENST00000205557	protein_coding	getma.org/?cm=var&var=hg19,16,16271420,C,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00957		A/S		A	neutral	2509/5747		getma.org/?cm=msa&ty=f&p=MRP6_HUMAN&rb=629&re=853&var=A827S	tolerated(0.78)				YES	ABCC6,missense_variant,p.Ala827Ser,ENST00000205557,NM_001171.5;ABCC6,downstream_gene_variant,,ENST00000574094,;ABCC6,intron_variant,,ENST00000456970,;ABCC6,upstream_gene_variant,,ENST00000576683,;							MODERATE	2479/4512	A827S	MRP6_HUMAN			Transcript		benign(0.003)	.	ENSP00000205557		CCDS10568.1			1	
EPHB2	0	LGGM	GRCh37	1	23111273	23111273	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	4	11	.	.	ENST00000374632.3:c.515G>A	p.Ser172Asn	p.S172N	ENST00000374632		172	aGc/aAc	0	1		UPI0000033EC3	0	getma.org/pdb.php?prot=EPHB2_HUMAN&from=20&to=197&var=S172N	ENST00000400191		ENSG00000133216	3393		15	-1.01		HGNC	p.S172N		EPHB2		SNV			1				ENST00000400191	protein_coding	getma.org/?cm=var&var=hg19,1,23111273,G,A&fts=all		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,SMART_domains:SM00615,Superfamily_domains:SSF49785		S/N		A	neutral	533/4641		getma.org/?cm=msa&ty=f&p=EPHB2_HUMAN&rb=20&re=197&var=S172N	tolerated(0.51)					EPHB2,missense_variant,p.Ser172Asn,ENST00000400191,NM_004442.6,NM_017449.3;EPHB2,missense_variant,p.Ser166Asn,ENST00000374627,;EPHB2,missense_variant,p.Ser172Asn,ENST00000374632,;EPHB2,missense_variant,p.Ser172Asn,ENST00000374630,;EPHB2,missense_variant,p.Ser172Asn,ENST00000544305,;							MODERATE	515/3168	S172N	EPHB2_HUMAN			Transcript		benign(0.004)	.	ENSP00000383053					1	
ONECUT2	0	LGGM	GRCh37	18	55103693	55103693	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	5	11	.	.	ENST00000491143.2:c.745T>G	p.Tyr249Asp	p.Y249D	ENST00000491143	NM_004852.2	249	Tac/Gac	0	1	1	UPI0000201DC1	0	NA	ENST00000491143		ENSG00000119547	8139		16	2.365		HGNC	p.Y230D		ONECUT2		SNV							ENST00000491143	protein_coding	getma.org/?cm=var&var=hg19,18,55103693,T,G&fts=all		hmmpanther:PTHR14057:SF10,hmmpanther:PTHR14057		Y/D		G	medium	777/16121		getma.org/?cm=msa&ty=f&p=ONEC2_HUMAN&rb=99&re=307&var=Y249D	deleterious(0.04)				YES	ONECUT2,missense_variant,p.Tyr249Asp,ENST00000491143,NM_004852.2;AC090340.1,downstream_gene_variant,,ENST00000581316,;							MODERATE	745/1515	Y249D	ONEC2_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000419185		CCDS42440.1			1	
SAMD9L	0	LGGM	GRCh37	7	92761421	92761421	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	71	12	.	.	ENST00000318238.4:c.3864A>T	p.Ala1288=	p.A1288=	ENST00000318238	NM_152703.2	1288	gcA/gcT	0	1	1	UPI000020F567	0		ENST00000318238		ENSG00000177409	1349		83			HGNC	p.A1288A		SAMD9L		SNV							ENST00000437805	protein_coding			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		A		A		5081/7134				B4E3M1_HUMAN			YES	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,;							LOW	3864/4755		SAM9L_HUMAN			Transcript			.	ENSP00000326247		CCDS34681.1			1	
ERBB4	0	LGGM	GRCh37	2	212285231	212285231	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	34	13	.	.	ENST00000342788.4:c.3070G>T	p.Val1024Phe	p.V1024F	ENST00000342788	NM_005235.2	1024	Gtc/Ttc	0	1	1	UPI00000499DF	0	getma.org/pdb.php?prot=ERBB4_HUMAN&from=975&to=1024&var=V1024F	ENST00000342788		ENSG00000178568	3432		47	1.655		HGNC	p.V1024F		ERBB4		SNV			1				ENST00000342788	protein_coding	getma.org/?cm=var&var=hg19,2,212285231,C,A&fts=all		PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90		V/F		A	low	3381/12132		getma.org/?cm=msa&ty=f&p=ERBB4_HUMAN&rb=975&re=1024&var=V1024F	deleterious(0)	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,missense_variant,p.Val1024Phe,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Val1024Phe,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Val1014Phe,ENST00000402597,;							MODERATE	3070/3927	V1024F	ERBB4_HUMAN			Transcript		benign(0.103)	.	ENSP00000342235		CCDS2394.1			1	
HELQ	0	LGGM	GRCh37	4	84361126	84361126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	52	13	.	.	ENST00000295488.3:c.1698C>A	p.His566Gln	p.H566Q	ENST00000295488	NM_133636.2	566	caC/caA	0	1	1	UPI000013E25F	0	NA	ENST00000295488		ENSG00000163312	18536		65	2.455		HGNC	p.H566Q		HELQ		SNV							ENST00000295488	protein_coding	getma.org/?cm=var&var=hg19,4,84361126,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF57,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		H/Q		T	medium	1861/3579		getma.org/?cm=msa&ty=f&p=HELQ_HUMAN&rb=566&re=758&var=H566Q	deleterious(0.03)				YES	HELQ,missense_variant,p.His566Gln,ENST00000295488,NM_133636.2;HELQ,missense_variant,p.His499Gln,ENST00000510985,;HELQ,3_prime_UTR_variant,,ENST00000508591,;							MODERATE	1698/3306	H566Q	HELQ_HUMAN			Transcript		benign(0.045)	.	ENSP00000295488		CCDS3603.1			1	
CD44	0	LGGM	GRCh37	11	35226182	35226182	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	31	13	.	.	ENST00000428726.2:c.1277C>T	p.Thr426Ile	p.T426I	ENST00000428726	NM_000610.3	426	aCa/aTa	0	1	1	UPI000013D3FE	0	NA	ENST00000428726		ENSG00000026508	1681		44	1.32		HGNC	p.T138I		CD44		SNV			1				ENST00000531110	protein_coding	getma.org/?cm=var&var=hg19,11,35226182,C,T&fts=all		hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6,Low_complexity_(Seg):seg		T/I		T	low	1400/3046		getma.org/?cm=msa&ty=f&p=CD44_HUMAN&rb=320&re=519&var=T426I	deleterious(0.02)	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN			YES	CD44,missense_variant,p.Thr426Ile,ENST00000428726,NM_000610.3;CD44,missense_variant,p.Thr427Ile,ENST00000433354,;CD44,missense_variant,p.Thr383Ile,ENST00000415148,NM_001001389.1;CD44,missense_variant,p.Thr426Ile,ENST00000437706,;CD44,missense_variant,p.Thr138Ile,ENST00000531110,;CD44,missense_variant,p.Thr78Ile,ENST00000528672,;CD44,missense_variant,p.Thr80Ile,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,;							MODERATE	1277/2229	T426I	CD44_HUMAN			Transcript		benign(0.117)	.	ENSP00000398632		CCDS7897.1			1	
HMCN1	0	LGGM	GRCh37	1	186084390	186084390	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	113	14	.	.	ENST00000271588.4:c.11405T>C	p.Val3802Ala	p.V3802A	ENST00000271588	NM_031935.2	3802	gTt/gCt	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3801&to=3803&var=V3802A	ENST00000271588		ENSG00000143341	19194		127	1.705		HGNC	p.V3802A		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186084390,T,C&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		V/A		C	low	11634/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3771&re=3833&var=V3802A					YES	HMCN1,missense_variant,p.Val3802Ala,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Val3802Ala,ENST00000367492,;							MODERATE	11405/16908	V3802A	HMCN1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000271588		CCDS30956.1			1	
DCHS2	0	LGGM	GRCh37	4	155219155	155219155	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	24	15	.	.	ENST00000357232.4:c.4946T>C	p.Phe1649Ser	p.F1649S	ENST00000357232	NM_017639.3	1649	tTc/tCc	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=1584&to=1685&var=F1649S	ENST00000357232		ENSG00000197410	23111		39	0.82		HGNC	p.F1649S		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155219155,A,G&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		F/S		G	low	4946/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1584&re=1685&var=F1649S	tolerated(0.26)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Phe1649Ser,ENST00000357232,NM_017639.3;							MODERATE	4946/8751	F1649S	PCD23_HUMAN			Transcript		benign(0.338)	.	ENSP00000349768		CCDS3785.1			1	
RYR3	0	LGGM	GRCh37	15	33999145	33999145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	63	15	.	.	ENST00000389232.4:c.6509G>T	p.Gly2170Val	p.G2170V	ENST00000389232	NM_001036.3	2170	gGc/gTc	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		78	2.31		HGNC	p.G2170V		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33999145,G,T&fts=all		Pfam_domain:PF01365,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		G/V		T	medium	6579/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2019&re=2229&var=G2170V					YES	RYR3,missense_variant,p.Gly2170Val,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Gly2170Val,ENST00000415757,NM_001243996.1;							MODERATE	6509/14613	G2170V	RYR3_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000373884		CCDS45210.1			1	
POLQ	0	LGGM	GRCh37	3	121202296	121202296	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	93	16	.	.	ENST00000264233.5:c.5907G>A	p.Gln1969=	p.Q1969=	ENST00000264233	NM_199420.3	1969	caG/caA	0	1	1	UPI0000D61B5F	0		ENST00000264233		ENSG00000051341	9186		109			HGNC	p.Q1969Q		POLQ		SNV							ENST00000264233	protein_coding			Gene3D:3.30.420.10,Superfamily_domains:SSF53098		Q		T		6036/8775							YES	POLQ,synonymous_variant,p.=,ENST00000264233,NM_199420.3;POLQ,upstream_gene_variant,,ENST00000474243,;							LOW	5907/7773		DPOLQ_HUMAN			Transcript			.	ENSP00000264233		CCDS33833.1			1	
CLU	0	LGGM	GRCh37	8	27456061	27456061	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	33	16	.	.	ENST00000316403.10:c.1256T>A	p.Val419Asp	p.V419D	ENST00000316403		419	gTc/gAc	0	1	1	UPI0000127BA6	0	NA	ENST00000316403		ENSG00000120885	2095		49	2.045		HGNC	p.V430D		CLU		SNV							ENST00000546343	protein_coding	getma.org/?cm=var&var=hg19,8,27456061,A,T&fts=all		PIRSF_domain:PIRSF002368,SMART_domains:SM00035,Pfam_domain:PF01093,hmmpanther:PTHR10970:SF1,hmmpanther:PTHR10970		V/D		T	medium	1662/3080		getma.org/?cm=msa&ty=f&p=CLUS_HUMAN&rb=29&re=449&var=V419D	deleterious(0)	Q8IWM0_HUMAN,Q8IWL5_HUMAN,Q6LDQ3_HUMAN,E7ERK6_HUMAN,E5RJZ5_HUMAN,E5RJD6_HUMAN,E5RH61_HUMAN,E5RGB0_HUMAN,E5RG36_HUMAN,B4DW11_HUMAN			YES	CLU,missense_variant,p.Val419Asp,ENST00000316403,;CLU,missense_variant,p.Val471Asp,ENST00000560366,NM_001831.3;CLU,missense_variant,p.Val430Asp,ENST00000546343,;CLU,missense_variant,p.Val419Asp,ENST00000523500,;CLU,missense_variant,p.Val419Asp,ENST00000405140,;CLU,missense_variant,p.Val282Asp,ENST00000522098,;CLU,missense_variant,p.Val110Asp,ENST00000521770,;CLU,non_coding_transcript_exon_variant,,ENST00000522299,;							MODERATE	1256/1350	V419D	CLUS_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000315130		CCDS47832.1			1	
ZNF648	0	LGGM	GRCh37	1	182027120	182027120	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	61	16	.	.	ENST00000339948.3:c.26G>A	p.Arg9Lys	p.R9K	ENST00000339948	NM_001009992.1	9	aGg/aAg	0	1	1	UPI0000161414	0	NA	ENST00000339948		ENSG00000179930	18190		77	0.975		HGNC	p.R9K		ZNF648		SNV							ENST00000339948	protein_coding	getma.org/?cm=var&var=hg19,1,182027120,C,T&fts=all		hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF1		R/K		T	low	234/3649		getma.org/?cm=msa&ty=f&p=ZN648_HUMAN&rb=1&re=41&var=R9K	tolerated_low_confidence(0.06)				YES	ZNF648,missense_variant,p.Arg9Lys,ENST00000339948,NM_001009992.1;RP11-538D16.2,downstream_gene_variant,,ENST00000411509,;							MODERATE	26/1707	R9K	ZN648_HUMAN			Transcript		benign(0.192)	.	ENSP00000344129		CCDS30952.1			1	
MACC1	0	LGGM	GRCh37	7	20180753	20180753	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	29	16	.	.	ENST00000400331.5:c.2375T>C	p.Leu792Pro	p.L792P	ENST00000400331	NM_182762.3	792	cTg/cCg	0	1		UPI00001B2F47	0	NA	ENST00000332878		ENSG00000183742	30215		45	2.57		HGNC	p.L792P		MACC1		SNV							ENST00000332878	protein_coding	getma.org/?cm=var&var=hg19,7,20180753,A,G&fts=all		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1		L/P		G	medium	2489/2994		getma.org/?cm=msa&ty=f&p=MACC1_HUMAN&rb=618&re=817&var=L792P	deleterious(0)					MACC1,missense_variant,p.Leu792Pro,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Leu792Pro,ENST00000332878,;MACC1,missense_variant,p.Leu792Pro,ENST00000589011,;MACC1-AS1,upstream_gene_variant,,ENST00000439285,;AC005062.2,upstream_gene_variant,,ENST00000437191,;AC005062.2,upstream_gene_variant,,ENST00000435968,;AC005062.2,upstream_gene_variant,,ENST00000428100,;							MODERATE	2375/2559	L792P	MACC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000328410		CCDS5369.1			1	
C5orf28	0	LGGM	GRCh37	5	43446492	43446492	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	59	17	.	.	ENST00000500337.2:c.480G>A	p.Gly160=	p.G160=	ENST00000500337		160	ggG/ggA	0	1		UPI000006FA64	0		ENST00000397080		ENSG00000151881	26139		76			HGNC	p.G160G		C5orf28		SNV							ENST00000397080	protein_coding			hmmpanther:PTHR13628,hmmpanther:PTHR13628:SF1		G		T		618/2338				Q6GMT5_HUMAN,D6RAV6_HUMAN				C5orf28,synonymous_variant,p.=,ENST00000500337,;C5orf28,synonymous_variant,p.=,ENST00000397080,NM_022483.4;C5orf28,synonymous_variant,p.=,ENST00000537319,;C5orf28,synonymous_variant,p.=,ENST00000512085,;C5orf28,synonymous_variant,p.=,ENST00000506860,;C5orf28,synonymous_variant,p.=,ENST00000510130,;C5orf28,non_coding_transcript_exon_variant,,ENST00000511525,;							LOW	480/648		CE028_HUMAN			Transcript			.	ENSP00000380270		CCDS3945.1			1	
DNAJC13	0	LGGM	GRCh37	3	132207835	132207835	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	54	18	.	.	ENST00000260818.6:c.3438A>C	p.Thr1146=	p.T1146=	ENST00000260818	NM_015268.3	1146	acA/acC	0	1	1	UPI000022C1FD	0		ENST00000260818		ENSG00000138246	30343		72			HGNC	p.T1146T		DNAJC13		SNV			1				ENST00000260818	protein_coding			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF25		T		C		3686/7730							YES	DNAJC13,synonymous_variant,p.=,ENST00000260818,NM_015268.3;DNAJC13,downstream_gene_variant,,ENST00000506813,;							LOW	3438/6732		DJC13_HUMAN			Transcript			.	ENSP00000260818		CCDS33857.1			1	
SCNN1A	0	LGGM	GRCh37	12	6483622	6483622	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	14	18	.	.	ENST00000360168.3:c.505T>G	p.Phe169Val	p.F169V	ENST00000360168	NM_001159576.1	169	Ttc/Gtc	0	1		UPI0000000DC4	0	NA	ENST00000228916		ENSG00000111319	10599		32	2.545		HGNC	p.F133V		SCNN1A		SNV			1				ENST00000543768	protein_coding	getma.org/?cm=var&var=hg19,12,6483622,A,C&fts=all		hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859		F/V		C	medium	427/3135		getma.org/?cm=msa&ty=f&p=SCNNA_HUMAN&rb=62&re=573&var=F110V	deleterious(0)	F5GXE6_HUMAN				SCNN1A,missense_variant,p.Phe110Val,ENST00000358945,;SCNN1A,missense_variant,p.Phe169Val,ENST00000360168,NM_001159576.1;SCNN1A,missense_variant,p.Phe110Val,ENST00000228916,NM_001038.5;SCNN1A,missense_variant,p.Phe133Val,ENST00000543768,NM_001159575.1;SCNN1A,missense_variant,p.Phe110Val,ENST00000396966,;SCNN1A,missense_variant,p.Phe131Val,ENST00000536788,;LTBR,upstream_gene_variant,,ENST00000539925,NM_001270987.1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542260,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000544882,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000536176,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000543585,;SCNN1A,intron_variant,,ENST00000538979,;LTBR,upstream_gene_variant,,ENST00000546296,;SCNN1A,downstream_gene_variant,,ENST00000536411,;SCNN1A,downstream_gene_variant,,ENST00000545605,;SCNN1A,downstream_gene_variant,,ENST00000538957,;SCNN1A,downstream_gene_variant,,ENST00000542436,;LTBR,upstream_gene_variant,,ENST00000542830,;SCNN1A,missense_variant,p.Phe110Val,ENST00000338748,;							MODERATE	328/2010	F110V	SCNNA_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000228916		CCDS8543.1			1	
C2orf44	0	LGGM	GRCh37	2	24261710	24261710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	22	19	.	.	ENST00000295148.4:c.655A>G	p.Ile219Val	p.I219V	ENST00000295148	NM_025203.2	219	Ata/Gta	0	1	1	UPI0000070788	0	NA	ENST00000295148		ENSG00000163026	26157		41	-0.14		HGNC	p.I219V		C2orf44		SNV							ENST00000406895	protein_coding	getma.org/?cm=var&var=hg19,2,24261710,T,C&fts=all		hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF2,Pfam_domain:PF15390,Superfamily_domains:0047732		I/V		C	neutral	713/3817		getma.org/?cm=msa&ty=f&p=CB044_HUMAN&rb=1&re=443&var=I219V	tolerated(1)	C9JYC1_HUMAN			YES	C2orf44,missense_variant,p.Ile219Val,ENST00000295148,NM_025203.2;C2orf44,missense_variant,p.Ile219Val,ENST00000406895,NM_001142319.1;C2orf44,downstream_gene_variant,,ENST00000443232,;MFSD2B,intron_variant,,ENST00000453731,;							MODERATE	655/2166	I219V	CB044_HUMAN			Transcript		benign(0.01)	.	ENSP00000295148		CCDS1705.1			1	
ZNF69	0	LGGM	GRCh37	19	12016699	12016699	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	84	19	.	.	ENST00000340180.5:c.448+997A>C		*150*	ENST00000340180	NM_021915.2			0	1		UPI0000EE6040	0		ENST00000429654		ENSG00000198429	13138		103			HGNC	p.H496P		ZNF69		SNV							ENST00000429654	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF35,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/P		C		1627/2010			deleterious(0.01)					ZNF69,missense_variant,p.His496Pro,ENST00000429654,;ZNF69,intron_variant,,ENST00000340180,NM_021915.2;ZNF69,downstream_gene_variant,,ENST00000445911,;							MODERATE	1487/1701		ZNF69_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000402985					1	
SIGLEC8	0	LGGM	GRCh37	19	51961443	51961443	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	58	20	.	.	ENST00000321424.3:c.199T>G	p.Phe67Val	p.F67V	ENST00000321424	NM_014442.2	67	Ttc/Gtc	0	1	1	UPI000013598B	0	getma.org/pdb.php?prot=SIGL8_HUMAN&from=27&to=152&var=F67V	ENST00000321424		ENSG00000105366	10877		78	3.42		HGNC	p.F67V		SIGLEC8		SNV							ENST00000340550	protein_coding	getma.org/?cm=var&var=hg19,19,51961443,A,C&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		F/V		C	medium	266/2949		getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=27&re=152&var=F67V	deleterious(0)				YES	SIGLEC8,missense_variant,p.Phe67Val,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Phe67Val,ENST00000430817,;SIGLEC8,missense_variant,p.Phe67Val,ENST00000340550,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;							MODERATE	199/1500	F67V	SIGL8_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000321077		CCDS33086.1			1	
C1QTNF1	0	LGGM	GRCh37	17	77043808	77043808	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	30	20	.	.	ENST00000339142.2:c.484T>A	p.Tyr162Asn	p.Y162N	ENST00000339142	NM_198593.3	162	Tac/Aac	0	1	1	UPI0000035539	0	getma.org/pdb.php?prot=C1QT1_HUMAN&from=147&to=275&var=Y162N	ENST00000339142		ENSG00000173918	14324		50	1.045		HGNC	p.Y162N		C1QTNF1		SNV							ENST00000581774	protein_coding	getma.org/?cm=var&var=hg19,17,77043808,T,A&fts=all		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		Y/N		A	low	1039/3100		getma.org/?cm=msa&ty=f&p=C1QT1_HUMAN&rb=147&re=275&var=Y162N	deleterious(0.01)				YES	C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000339142,NM_198593.3;C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000392445,NM_153372.1;C1QTNF1,missense_variant,p.Tyr80Asn,ENST00000311661,NM_198594.2;C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000579760,NM_030968.3;C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000580474,;C1QTNF1,missense_variant,p.Tyr172Asn,ENST00000354124,;C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000580454,;C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000581774,;C1QTNF1,missense_variant,p.Tyr80Asn,ENST00000578229,;C1QTNF1,missense_variant,p.Tyr162Asn,ENST00000583904,;C1QTNF1,non_coding_transcript_exon_variant,,ENST00000582625,;							MODERATE	484/846	Y162N	C1QT1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000340864		CCDS11761.1			1	
ANTXRL	0	LGGM	GRCh37	10	47700912	47700912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	18	21	.	.	ENST00000447511.2:c.1488C>A	p.His496Gln	p.H496Q	ENST00000447511	NM_001278688.1	496	caC/caA	0	1	1	UPI00015B6A6A	0		ENST00000447511		ENSG00000198250	27277		39			HGNC	p.H496Q		ANTXRL		SNV							ENST00000537271	protein_coding			hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF10		H/Q		A		1753/2284			tolerated(0.3)	H3BVE1_HUMAN,H3BPS2_HUMAN			YES	ANTXRL,missense_variant,p.His496Gln,ENST00000447511,NM_001278688.1;ANTXRL,missense_variant,p.His496Gln,ENST00000537271,;ANTXRL,3_prime_UTR_variant,,ENST00000424375,;							MODERATE	1488/1896					Transcript		possibly_damaging(0.61)	.	ENSP00000455449		CCDS60524.1			1	
ZNF781	0	LGGM	GRCh37	19	38160358	38160358	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	34	21	.	.	ENST00000358582.4:c.692T>G	p.Val231Gly	p.V231G	ENST00000358582	NM_152605.3	231	gTa/gGa	0	1	1	UPI0000351D6C	0	NA	ENST00000358582		ENSG00000196381	26745		55	3.65		HGNC	p.V231G		ZNF781		SNV							ENST00000358582	protein_coding	getma.org/?cm=var&var=hg19,19,38160358,A,C&fts=all		hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF13		V/G		C	high	1441/3147		getma.org/?cm=msa&ty=f&p=ZN781_HUMAN&rb=191&re=266&var=V231G	deleterious(0.01)				YES	ZNF781,missense_variant,p.Val231Gly,ENST00000358582,NM_152605.3;ZNF781,missense_variant,p.Val231Gly,ENST00000590008,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000586732,;ZFP30,intron_variant,,ENST00000589676,;ZNF781,downstream_gene_variant,,ENST00000593040,;							MODERATE	692/984	V231G	ZN781_HUMAN			Transcript		benign(0.307)	.	ENSP00000351391		CCDS12507.1			1	
SRSF5	0	LGGM	GRCh37	14	70238017	70238017	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	53	25	.	.	ENST00000553521.1:c.658A>C	p.Arg220=	p.R220=	ENST00000553521		220	Agg/Cgg	0	1		UPI00001358C0	0		ENST00000394366		ENSG00000100650	10787		78			HGNC	p.R220R	rs375993522	SRSF5		SNV	C:0						ENST00000557154	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10548:SF81,hmmpanther:PTHR10548		R	C:0.0001	C		965/1638				Q86U32_HUMAN,G3V5K8_HUMAN				SRSF5,synonymous_variant,p.=,ENST00000553521,;SRSF5,synonymous_variant,p.=,ENST00000394366,NM_001039465.1;SRSF5,synonymous_variant,p.=,ENST00000557154,NM_006925.3;SRSF5,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000556587,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556647,;SRSF5,3_prime_UTR_variant,,ENST00000555547,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554465,;SRSF5,non_coding_transcript_exon_variant,,ENST00000556184,;SRSF5,non_coding_transcript_exon_variant,,ENST00000554929,;SRSF5,downstream_gene_variant,,ENST00000557460,;SRSF5,downstream_gene_variant,,ENST00000557435,;SRSF5,downstream_gene_variant,,ENST00000556436,;SRSF5,downstream_gene_variant,,ENST00000555412,;SRSF5,downstream_gene_variant,,ENST00000556330,;							LOW	658/819		SRSF5_HUMAN			Transcript			.	ENSP00000377892		CCDS32109.1			1	
IGLV3-32	0	LGGM	GRCh37	22	22937445	22937445	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	31	26	.	.	ENST00000390303.2:c.263C>T	p.Thr88Ile	p.T88I	ENST00000390303		88	aCc/aTc	0	1	1	UPI000173A2E5	0		ENST00000390303		ENSG00000211657	5914		57			HGNC	p.T88I		IGLV3-32		SNV							ENST00000390303	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		T/I		T		302/358			deleterious(0)				YES	IGLV3-32,missense_variant,p.Thr88Ile,ENST00000390303,;							MODERATE	263/319					Transcript		benign(0.063)	.	ENSP00000374838					1	
CCNL2	0	LGGM	GRCh37	1	1333672	1333672	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	15	27	.	.	ENST00000400809.3:c.414A>G	p.Pro138=	p.P138=	ENST00000400809	NM_030937.4	138	ccA/ccG	0	1	1	UPI00000713F5	0		ENST00000400809		ENSG00000221978	20570		42			HGNC	p.K5E		CCNL2		SNV							ENST00000482621	protein_coding			Superfamily_domains:SSF47954,SMART_domains:SM00385,PIRSF_domain:PIRSF036580,Pfam_domain:PF00134,Gene3D:1.10.472.10,hmmpanther:PTHR10026:SF45,hmmpanther:PTHR10026		P		C		420/2305				J3QSH2_HUMAN,B4DE38_HUMAN			YES	CCNL2,synonymous_variant,p.=,ENST00000400809,NM_030937.4;CCNL2,synonymous_variant,p.=,ENST00000408918,NM_001039577.3;CCNL2,synonymous_variant,p.=,ENST00000497013,;CCNL2,5_prime_UTR_variant,,ENST00000408952,;RP4-758J18.2,upstream_gene_variant,,ENST00000444362,;RP4-758J18.2,upstream_gene_variant,,ENST00000448629,;MRPL20,downstream_gene_variant,,ENST00000344843,NM_017971.3;MRPL20,downstream_gene_variant,,ENST00000492508,;RP4-758J18.2,upstream_gene_variant,,ENST00000576232,;RP4-758J18.2,upstream_gene_variant,,ENST00000570344,;CCNL2,non_coding_transcript_exon_variant,,ENST00000471930,;RP4-758J18.2,upstream_gene_variant,,ENST00000453521,;MRPL20,downstream_gene_variant,,ENST00000493287,;CCNL2,missense_variant,p.Lys149Glu,ENST00000425598,;CCNL2,synonymous_variant,p.=,ENST00000481223,;CCNL2,synonymous_variant,p.=,ENST00000482621,;CCNL2,synonymous_variant,p.=,ENST00000488340,;CCNL2,non_coding_transcript_exon_variant,,ENST00000496007,;RP4-758J18.2,upstream_gene_variant,,ENST00000572242,;RP4-758J18.2,upstream_gene_variant,,ENST00000418833,;RP4-758J18.2,upstream_gene_variant,,ENST00000447725,;MRPL20,downstream_gene_variant,,ENST00000487659,;CCNL2,upstream_gene_variant,,ENST00000473872,;CCNL2,upstream_gene_variant,,ENST00000463895,;							LOW	414/1563		CCNL2_HUMAN			Transcript			.	ENSP00000383611		CCDS30557.1			1	
ACTA1	0	LGGM	GRCh37	1	229568519	229568519	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	100	29	.	.	ENST00000366684.3:c.238A>C	p.Asn80His	p.N80H	ENST00000366684	NM_001100.3	80	Aac/Cac	0	1	1	UPI0000000860	0	getma.org/pdb.php?prot=ACTS_HUMAN&from=4&to=377&var=N80H	ENST00000366684		ENSG00000143632	129		129	4.135		HGNC	p.K80Q		ACTA1		SNV			1				ENST00000366682	protein_coding	getma.org/?cm=var&var=hg19,1,229568519,T,G&fts=all		hmmpanther:PTHR11937:SF165,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190		N/H		G	high	341/1491		getma.org/?cm=msa&ty=f&p=ACTS_HUMAN&rb=4&re=377&var=N80H	deleterious_low_confidence(0)				YES	ACTA1,missense_variant,p.Asn80His,ENST00000366684,NM_001100.3;ACTA1,missense_variant,p.Asn80His,ENST00000366683,;							MODERATE	238/1134	N80H	ACTS_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000355645		CCDS1578.1			1	
METTL2A	0	LGGM	GRCh37	17	60522211	60522211	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H062262	H062262N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	47	29	.	.	ENST00000311506.5:c.823A>G	p.Ile275Val	p.I275V	ENST00000311506	NM_181725.3	275	Atc/Gtc	0	1	1	UPI0000201189	0	NA	ENST00000311506		ENSG00000087995	25755		76	-0.35		HGNC	p.I275V	rs770767774	METTL2A		SNV							ENST00000311506	protein_coding	getma.org/?cm=var&var=hg19,17,60522211,A,G&fts=all		hmmpanther:PTHR22809,hmmpanther:PTHR22809:SF4,Pfam_domain:PF13489,Gene3D:3.40.50.150,PIRSF_domain:PIRSF037755,Superfamily_domains:SSF53335		I/V		G	neutral	859/2537	1.50E-05	getma.org/?cm=msa&ty=f&p=MET2A_HUMAN&rb=201&re=378&var=I275V	tolerated(1)	B3KM33_HUMAN			YES	METTL2A,missense_variant,p.Ile275Val,ENST00000311506,NM_181725.3;METTL2A,non_coding_transcript_exon_variant,,ENST00000333483,;METTL2A,downstream_gene_variant,,ENST00000582027,;							MODERATE	823/1137	I275V	MET2A_HUMAN			Transcript		benign(0.006)	.	ENSP00000309610	8.24E-06	CCDS45752.1			1	
TRHR	0	LGGM	GRCh37	8	110131457	110131457	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	189	29	.	.	ENST00000518632.1:c.970T>C	p.Ser324Pro	p.S324P	ENST00000518632		324	Tcc/Ccc	0	1		UPI0000050437	0	NA	ENST00000311762		ENSG00000174417	12299		218	2.415		HGNC	p.S324P		TRHR		SNV			1				ENST00000311762	protein_coding	getma.org/?cm=var&var=hg19,8,110131457,T,C&fts=all		hmmpanther:PTHR24243:SF115,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01846,Prints_domain:PR00237		S/P		C	medium	1059/1415		getma.org/?cm=msa&ty=f&p=TRFR_HUMAN&rb=321&re=398&var=S324P	deleterious(0)					TRHR,missense_variant,p.Ser324Pro,ENST00000518632,;TRHR,missense_variant,p.Ser324Pro,ENST00000311762,NM_003301.5;							MODERATE	970/1197	S324P	TRFR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000309818		CCDS6311.1			1	
RHCE	0	LGGM	GRCh37	1	25717318	25717318	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	49	29	.	.	ENST00000294413.7:c.723C>T	p.Thr241=	p.T241=	ENST00000294413	NM_020485.4	241	acC/acT	0	1	1	UPI00001D9627	0		ENST00000294413		ENSG00000188672	10008		78			HGNC	p.T241T		RHCE		SNV			1				ENST00000413854	protein_coding			Prints_domain:PR00342,Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix		T		A		782/1591				Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN			YES	RHCE,synonymous_variant,p.=,ENST00000349320,;RHCE,synonymous_variant,p.=,ENST00000294413,NM_020485.4;RHCE,synonymous_variant,p.=,ENST00000243186,;RHCE,synonymous_variant,p.=,ENST00000374352,;RHCE,synonymous_variant,p.=,ENST00000413854,;RHCE,synonymous_variant,p.=,ENST00000425135,;RHCE,synonymous_variant,p.=,ENST00000349438,NM_138618.3;RHCE,intron_variant,,ENST00000455194,;RHCE,intron_variant,,ENST00000340849,NM_138617.3;RHCE,intron_variant,,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000527747,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;RHCE,intron_variant,,ENST00000533771,;							LOW	723/1254		RHCE_HUMAN			Transcript			.	ENSP00000294413		CCDS30635.1			1	
MYLK3	0	LGGM	GRCh37	16	46746614	46746614	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H062262	H062262N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	29	34	.	.	ENST00000394809.4:c.2060A>G	p.Glu687Gly	p.E687G	ENST00000394809	NM_182493.2	687	gAg/gGg	0	1	1	UPI000059D380	0	getma.org/pdb.php?prot=MYLK3_HUMAN&from=515&to=770&var=E687G	ENST00000394809		ENSG00000140795	29826		63	1.155		HGNC	p.E687G		MYLK3		SNV							ENST00000394809	protein_coding	getma.org/?cm=var&var=hg19,16,46746614,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF45,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/G		C	low	2176/3301		getma.org/?cm=msa&ty=f&p=MYLK3_HUMAN&rb=515&re=770&var=E687G	deleterious(0)				YES	MYLK3,missense_variant,p.Glu687Gly,ENST00000394809,NM_182493.2;MYLK3,missense_variant,p.Glu346Gly,ENST00000536476,;MYLK3,upstream_gene_variant,,ENST00000562104,;MYLK3,upstream_gene_variant,,ENST00000565182,;							MODERATE	2060/2460	E687G	MYLK3_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000378288		CCDS10723.2			1	
CDC73	0	LGGM	GRCh37	1	193205401	193205401	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	117	36	.	.	ENST00000367435.3:c.1332C>T	p.Ala444=	p.A444=	ENST00000367435	NM_024529.4	444	gcC/gcT	0	1	1	UPI0000021592	0		ENST00000367435		ENSG00000134371	16783		153			HGNC	p.A444A		CDC73		SNV			1				ENST00000367435	protein_coding			Pfam_domain:PF05179,hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8		A		T		1516/4969							YES	CDC73,synonymous_variant,p.=,ENST00000367435,NM_024529.4;CDC73,intron_variant,,ENST00000477868,;							LOW	1332/1596		CDC73_HUMAN			Transcript			.	ENSP00000356405		CCDS1382.1			1	
ANKHD1	0	LGGM	GRCh37	5	139917675	139917675	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	104	36	.	.	ENST00000297183.6:c.7233C>T	p.Gly2411=	p.G2411=	ENST00000297183	NM_020690.5	2411	ggC/ggT	0	1		UPI0000074447	0		ENST00000360839		ENSG00000131503	24714		140			HGNC	p.G950G		ANKHD1		SNV							ENST00000433049	protein_coding			hmmpanther:PTHR23206		G		T		7387/8221								ANKHD1,synonymous_variant,p.=,ENST00000297183,NM_020690.5;ANKHD1-EIF4EBP3,synonymous_variant,p.=,ENST00000532219,;ANKHD1,synonymous_variant,p.=,ENST00000360839,NM_017747.2;ANKHD1,synonymous_variant,p.=,ENST00000431508,;ANKHD1,synonymous_variant,p.=,ENST00000433049,;ANKHD1,synonymous_variant,p.=,ENST00000435794,;ANKHD1,synonymous_variant,p.=,ENST00000544120,;ANKHD1,synonymous_variant,p.=,ENST00000432301,;ANKHD1-EIF4EBP3,synonymous_variant,p.=,ENST00000437495,;ANKHD1,synonymous_variant,p.=,ENST00000421706,;SRA1,intron_variant,,ENST00000602657,;ANKHD1-EIF4EBP3,non_coding_transcript_exon_variant,,ENST00000474060,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000495578,;ANKHD1,downstream_gene_variant,,ENST00000475148,;							LOW	7233/7629		ANKH1_HUMAN			Transcript			.	ENSP00000354085		CCDS4225.1			1	
YWHAG	0	LGGM	GRCh37	7	75959203	75959203	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	52	36	.	.	ENST00000307630.3:c.435G>A	p.Thr145=	p.T145=	ENST00000307630	NM_012479.3	145	acG/acA	0	1	1	UPI000000106B	0		ENST00000307630		ENSG00000170027	12852		88			HGNC	p.T145T		YWHAG		SNV							ENST00000307630	protein_coding			hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF2,Gene3D:3iquA00,Pfam_domain:PF00244,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Superfamily_domains:SSF48445		T		T		658/3745				B4DHC4_HUMAN			YES	YWHAG,synonymous_variant,p.=,ENST00000307630,NM_012479.3;							LOW	435/744		1433G_HUMAN			Transcript			.	ENSP00000306330		CCDS5584.1			1	
POTEG	0	LGGM	GRCh37	14	19553710	19553710	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	94	37	.	.	ENST00000409832.3:c.294G>T	p.Met98Ile	p.M98I	ENST00000409832	NM_001005356.2	98	atG/atT	0	1		UPI00015DFD28	0	NA	ENST00000547889		ENSG00000222036	33896		131	1.795		HGNC	p.M98I		POTEG		SNV							ENST00000552966	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,14,19553710,G,T&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		M/I		T	low	346/1975		getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=40&re=142&var=M98I	deleterious_low_confidence(0.01)					POTEG,missense_variant,p.Met98Ile,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Met98Ile,ENST00000552966,;POTEG,missense_variant,p.Met98Ile,ENST00000547889,;							MODERATE	294/1461	M98I	POTEG_HUMAN			Transcript		benign(0.01)	.	ENSP00000448062					1	
RASA1	0	LGGM	GRCh37	5	86628418	86628418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	21	38	.	.	ENST00000274376.6:c.787C>T	p.Leu263Phe	p.L263F	ENST00000274376	NM_002890.2	263	Ctt/Ttt	0	1	1	UPI00001351F3	0	getma.org/pdb.php?prot=RASA1_HUMAN&from=181&to=272&var=L263F	ENST00000274376		ENSG00000145715	9871		59	3.165		HGNC	p.L97F		RASA1		SNV			1				ENST00000506290	protein_coding	getma.org/?cm=var&var=hg19,5,86628418,C,T&fts=all		Gene3D:3.30.505.10,PROSITE_profiles:PS50001,hmmpanther:PTHR10194,Superfamily_domains:SSF55550		L/F		T	medium	1351/3752		getma.org/?cm=msa&ty=f&p=RASA1_HUMAN&rb=181&re=272&var=L263F	deleterious(0.04)	B4DTL8_HUMAN			YES	RASA1,missense_variant,p.Leu86Phe,ENST00000456692,NM_022650.2;RASA1,missense_variant,p.Leu263Phe,ENST00000274376,NM_002890.2;RASA1,missense_variant,p.Leu96Phe,ENST00000512763,;RASA1,missense_variant,p.Leu97Phe,ENST00000506290,;RASA1,missense_variant,p.Leu263Phe,ENST00000515800,;							MODERATE	787/3144	L263F	RASA1_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000274376		CCDS34200.1			1	
PCDHAC1	0	LGGM	GRCh37	5	140308506	140308506	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H062262	H062262N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	121	38	.	.	ENST00000253807.2:c.2029C>A	p.Leu677Ile	p.L677I	ENST00000253807	NM_018898.3	677	Ctt/Att	0	1	1	UPI000013CDF7	0	NA	ENST00000253807		ENSG00000248383	8676		159	1.32		HGNC	p.L677I	rs782289381	PCDHAC1		SNV							ENST00000409700	protein_coding	getma.org/?cm=var&var=hg19,5,140308506,C,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112		L/I		A	low	2029/5299	1.51E-05	getma.org/?cm=msa&ty=f&p=PCDC1_HUMAN&rb=658&re=811&var=L677I	tolerated(0.17)				YES	PCDHAC1,missense_variant,p.Leu677Ile,ENST00000253807,NM_018898.3;PCDHAC1,missense_variant,p.Leu677Ile,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;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;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;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,;							MODERATE	2029/2892	L677I	PCDC1_HUMAN			Transcript		benign(0.228)	.	ENSP00000253807	8.24E-06	CCDS4241.1			1	
TRPS1	0	LGGM	GRCh37	8	116430588	116430588	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	92	43	.	.	ENST00000395715.3:c.2793C>T	p.Asn931=	p.N931=	ENST00000395715	NM_014112.2	931	aaC/aaT	0	1		UPI0000137646	0		ENST00000220888		ENSG00000104447	12340		135			HGNC	p.N931N	rs376942817	TRPS1		SNV	A:0.0003		1	0.000306			ENST00000395715	protein_coding		A:0.0008	PROSITE_profiles:PS50114,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,PROSITE_patterns:PS00344,Gene3D:3.30.50.10,Pfam_domain:PF00320,SMART_domains:SM00401,Superfamily_domains:SSF57716,Prints_domain:PR00619		N	A:0	A		2914/5480					A:0	A:0		TRPS1,synonymous_variant,p.=,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,synonymous_variant,p.=,ENST00000220888,;TRPS1,synonymous_variant,p.=,ENST00000520276,NM_001282902.1;TRPS1,synonymous_variant,p.=,ENST00000519076,;TRPS1,synonymous_variant,p.=,ENST00000518018,;		A:0.0002					LOW	2754/3846		TRPS1_HUMAN		A:0	Transcript			.	ENSP00000220888	2.48E-05			A:0	1	
HMCN1	0	LGGM	GRCh37	1	186056735	186056735	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	69	69	.	.	ENST00000271588.4:c.9321G>T	p.Glu3107Asp	p.E3107D	ENST00000271588	NM_031935.2	3107	gaG/gaT	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3062&to=3147&var=E3107D	ENST00000271588		ENSG00000143341	19194		138	0.62		HGNC	p.E3107D		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186056735,G,T&fts=all		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		E/D		T	neutral	9550/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3062&re=3147&var=E3107D					YES	HMCN1,missense_variant,p.Glu3107Asp,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Glu3107Asp,ENST00000367492,;							MODERATE	9321/16908	E3107D	HMCN1_HUMAN			Transcript		benign(0.014)	.	ENSP00000271588		CCDS30956.1			1	
OR6C4	0	LGGM	GRCh37	12	55945195	55945195	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H062262	H062262N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	138	80	.	.	ENST00000394256.2:c.185G>A	p.Arg62Gln	p.R62Q	ENST00000394256	NM_001005494.1	62	cGg/cAg	0	1	1	UPI000004A282	0	getma.org/pdb.php?prot=OR6C4_HUMAN&from=1&to=136&var=R62Q	ENST00000394256		ENSG00000179626	19632		218	0.87		HGNC	p.R62Q	rs762612300	OR6C4		SNV							ENST00000394256	protein_coding	getma.org/?cm=var&var=hg19,12,55945195,G,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		R/Q		A	low	213/1046		getma.org/?cm=msa&ty=f&p=OR6C4_HUMAN&rb=1&re=136&var=R62Q	tolerated_low_confidence(0.12)				YES	OR6C4,missense_variant,p.Arg62Gln,ENST00000394256,NM_001005494.1;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;	0.000116						MODERATE	185/930	R62Q	OR6C4_HUMAN			Transcript		benign(0.002)	.	ENSP00000377799	8.24E-06	CCDS31827.1			1	
PSIP1	0	LGGM	GRCh37	9	15486056	15486057	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	by Submitter	H062262	H062262N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H062262N.bam, H062262T.bam	Illumina HiSeq	17	81	.	.	ENST00000380733.4:c.403_404insT	p.Lys135IlefsTer4	p.K135Ifs*4	ENST00000380733		135	aaa/aTaa	0	1	1	UPI0000073FC4	0		ENST00000380733		ENSG00000164985	9527		98			HGNC	p.K135fs		PSIP1		insertion							ENST00000380733	protein_coding			hmmpanther:PTHR12550		K/IX		A		747-748/3391				Q8N4N4_HUMAN			YES	PSIP1,frameshift_variant,p.Lys135IlefsTer4,ENST00000380733,;PSIP1,frameshift_variant,p.Lys135IlefsTer4,ENST00000380738,NM_001128217.1,NM_033222.3;PSIP1,frameshift_variant,p.Lys135IlefsTer4,ENST00000380715,;PSIP1,frameshift_variant,p.Lys135IlefsTer4,ENST00000380716,;PSIP1,frameshift_variant,p.Lys135IlefsTer4,ENST00000397519,NM_021144.3;PSIP1,non_coding_transcript_exon_variant,,ENST00000487363,;PSIP1,downstream_gene_variant,,ENST00000463712,;							HIGH	403-404/1593		PSIP1_HUMAN			Transcript			.	ENSP00000370109		CCDS6479.1			1	
RAB26	0	LGGM	GRCh37	16	2201887	2201887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	13	2	.	.	ENST00000210187.6:c.446A>G	p.Lys149Arg	p.K149R	ENST00000210187	NM_014353.4	149	aAg/aGg	0	1	1	UPI00003584E3	0	getma.org/pdb.php?prot=RAB26_HUMAN&from=65&to=227&var=K149R	ENST00000210187		ENSG00000167964	14259		15	-0.29		HGNC	p.K149R		RAB26		SNV							ENST00000210187	protein_coding	getma.org/?cm=var&var=hg19,16,2201887,A,G&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF441,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00174,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00175,Superfamily_domains:SSF52540		K/R		G	neutral	606/1675		getma.org/?cm=msa&ty=f&p=RAB26_HUMAN&rb=65&re=227&var=K149R	tolerated(0.18)	B2RAA6_HUMAN			YES	RAB26,missense_variant,p.Lys149Arg,ENST00000210187,NM_014353.4;RAB26,missense_variant,p.Lys83Arg,ENST00000541451,;TRAF7,upstream_gene_variant,,ENST00000326181,NM_032271.2;RAB26,upstream_gene_variant,,ENST00000566724,;RP11-304L19.5,downstream_gene_variant,,ENST00000563192,;SNORD60,downstream_gene_variant,,ENST00000383903,NR_002736.1;RAB26,3_prime_UTR_variant,,ENST00000565592,;RAB26,non_coding_transcript_exon_variant,,ENST00000564426,;RAB26,non_coding_transcript_exon_variant,,ENST00000562735,;RAB26,non_coding_transcript_exon_variant,,ENST00000561600,;RAB26,non_coding_transcript_exon_variant,,ENST00000567145,;TRAF7,upstream_gene_variant,,ENST00000564067,;TRAF7,upstream_gene_variant,,ENST00000565383,;TRAF7,upstream_gene_variant,,ENST00000567653,;TRAF7,upstream_gene_variant,,ENST00000569686,;							MODERATE	446/771	K149R	RAB26_HUMAN			Transcript		benign(0.01)	.	ENSP00000210187		CCDS10460.1			1	
PTCH1	0	LGGM	GRCh37	9	98220389	98220389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	13	2	.	.	ENST00000331920.6:c.3074G>T	p.Arg1025Leu	p.R1025L	ENST00000331920	NM_000264.3	1025	cGc/cTc	0	1	1	UPI00001AFF9C	0	NA	ENST00000331920		ENSG00000185920	9585		15	2		HGNC	p.R874L		PTCH1		SNV			1				ENST00000418258	protein_coding	getma.org/?cm=var&var=hg19,9,98220389,C,A&fts=all		Superfamily_domains:SSF82866,Pfam_domain:PF02460,TIGRFAM_domain:TIGR00918,Gene3D:2j8sB01,hmmpanther:PTHR10796:SF61,hmmpanther:PTHR10796		R/L		A	medium	3374/8057		getma.org/?cm=msa&ty=f&p=PTC1_HUMAN&rb=362&re=1180&var=R1025L	deleterious(0)	Q6TKQ0_HUMAN,F8VXL8_HUMAN,F8VQS6_HUMAN			YES	PTCH1,missense_variant,p.Arg959Leu,ENST00000430669,;PTCH1,missense_variant,p.Arg1025Leu,ENST00000331920,NM_000264.3;PTCH1,missense_variant,p.Arg959Leu,ENST00000437951,NM_001083603.1,NM_001083602.1;PTCH1,missense_variant,p.Arg874Leu,ENST00000418258,NM_001083607.1;PTCH1,missense_variant,p.Arg874Leu,ENST00000421141,NM_001083604.1,NM_001083605.1;PTCH1,missense_variant,p.Arg874Leu,ENST00000429896,NM_001083606.1;PTCH1,missense_variant,p.Arg1024Leu,ENST00000375274,;PTCH1,non_coding_transcript_exon_variant,,ENST00000547615,;PTCH1,3_prime_UTR_variant,,ENST00000375290,;							MODERATE	3074/4344	R1025L	PTC1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000332353		CCDS6714.1			1	
CDC23	0	LGGM	GRCh37	5	137524808	137524808	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	36	3	.	.	ENST00000394886.2:c.1653G>A	p.Arg551=	p.R551=	ENST00000394886	NM_004661.3	551	cgG/cgA	0	1	1	UPI000020C69D	0		ENST00000394886		ENSG00000094880	1724		39			HGNC	p.R551R		CDC23		SNV							ENST00000394886	protein_coding			hmmpanther:PTHR12558,hmmpanther:PTHR12558:SF10		R		T		1684/3153							YES	CDC23,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000475021,;CDC23,downstream_gene_variant,,ENST00000471692,;KIF20A,downstream_gene_variant,,ENST00000502338,;							LOW	1653/1794		CDC23_HUMAN			Transcript			.	ENSP00000378350		CCDS4200.2			1	
PARP8	0	LGGM	GRCh37	5	50137811	50137811	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	44	3	.	.	ENST00000281631.5:c.2474G>A	p.Gly825Asp	p.G825D	ENST00000281631	NM_024615.3	825	gGc/gAc	0	1	1	UPI0000073D19	0	NA	ENST00000281631		ENSG00000151883	26124		47	2.095		HGNC	p.G783D	COSM3855457	PARP8		SNV						1	ENST00000503750	protein_coding	getma.org/?cm=var&var=hg19,5,50137811,G,A&fts=all		Superfamily_domains:SSF56399,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3,PROSITE_profiles:PS51059		G/D		A	medium	2632/7177		getma.org/?cm=msa&ty=f&p=PARP8_HUMAN&rb=617&re=844&var=G825D	deleterious(0.03)	D6RGZ9_HUMAN			YES	PARP8,missense_variant,p.Gly825Asp,ENST00000281631,NM_024615.3,NM_001178056.1;PARP8,missense_variant,p.Gly783Asp,ENST00000503750,;PARP8,missense_variant,p.Gly804Asp,ENST00000505554,;PARP8,missense_variant,p.Gly783Asp,ENST00000514067,;PARP8,missense_variant,p.Gly825Asp,ENST00000505697,NM_001178055.1;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;					1		MODERATE	2474/2565	G825D	PARP8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000281631		CCDS3954.1			1	
SOX17	0	LGGM	GRCh37	8	55370795	55370795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	0	3	.	.	ENST00000297316.4:c.97G>A	p.Ala33Thr	p.A33T	ENST00000297316	NM_022454.3	33	Gcc/Acc	0	1	1	UPI00001362B7	0	NA	ENST00000297316		ENSG00000164736	18122		3	0.99		HGNC	p.A33T		SOX17		SNV			1				ENST00000297316	protein_coding	getma.org/?cm=var&var=hg19,8,55370795,G,A&fts=all		hmmpanther:PTHR10270:SF216,hmmpanther:PTHR10270		A/T		A	low	301/2342		getma.org/?cm=msa&ty=f&p=SOX17_HUMAN&rb=1&re=67&var=A33T	tolerated(0.17)	Q2T9L5_HUMAN,Q2NKK5_HUMAN			YES	SOX17,missense_variant,p.Ala33Thr,ENST00000297316,NM_022454.3;							MODERATE	97/1245	A33T	SOX17_HUMAN			Transcript		benign(0.004)	.	ENSP00000297316		CCDS6159.1			1	
HNF4A	0	LGGM	GRCh37	20	43034764	43034764	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	45	3	.	.	ENST00000316099.4:c.182C>T	p.Ala61Val	p.A61V	ENST00000316099	NM_001258355.1	61	gCc/gTc	0	1	1	UPI000016A0BA	0	getma.org/pdb.php?prot=HNF4A_HUMAN&from=58&to=127&var=A61V	ENST00000316099		ENSG00000101076	5024		48	0.57		HGNC	p.A39V		HNF4A		SNV			1				ENST00000316673	protein_coding	getma.org/?cm=var&var=hg19,20,43034764,C,T&fts=all		Gene3D:3.30.50.10,Pfam_domain:PF00105,Prints_domain:PR00047,PROSITE_patterns:PS00031,PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,SMART_domains:SM00399,Superfamily_domains:SSF57716		A/V		T	neutral	271/4694		getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=58&re=127&var=A61V	deleterious(0.03)	F1D8T1_HUMAN			YES	HNF4A,missense_variant,p.Ala61Val,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.Ala61Val,ENST00000415691,;HNF4A,missense_variant,p.Ala61Val,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Ala39Val,ENST00000316673,;HNF4A,missense_variant,p.Ala39Val,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,missense_variant,p.Ala39Val,ENST00000609795,NM_001030004.2;HNF4A,missense_variant,p.Ala36Val,ENST00000609262,;MIR3646,upstream_gene_variant,,ENST00000578301,;HNF4A,synonymous_variant,p.=,ENST00000372920,;							MODERATE	182/1425	A61V	HNF4A_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000312987		CCDS13330.1			1	
SLC12A1	0	LGGM	GRCh37	15	48500239	48500239	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	89	4	.	.	ENST00000396577.3:c.323C>T	p.Ala108Val	p.A108V	ENST00000396577	NM_001184832.1	108	gCc/gTc	0	1		UPI0000229BFB	0	NA	ENST00000380993		ENSG00000074803	10910		93	1.325		HGNC	p.A108V		SLC12A1		SNV			1				ENST00000396577	protein_coding	getma.org/?cm=var&var=hg19,15,48500239,C,T&fts=all		hmmpanther:PTHR11827:SF45,hmmpanther:PTHR11827,Pfam_domain:PF08403,TIGRFAM_domain:TIGR00930		A/V		T	low	539/4707		getma.org/?cm=msa&ty=f&p=S12A1_HUMAN&rb=89&re=161&var=A108V	tolerated(0.34)	O76029_HUMAN,H0YLJ2_HUMAN				SLC12A1,missense_variant,p.Ala108Val,ENST00000396577,NM_001184832.1;SLC12A1,missense_variant,p.Ala108Val,ENST00000380993,NM_000338.2;SLC12A1,missense_variant,p.Ala108Val,ENST00000558405,;SLC12A1,missense_variant,p.Ala108Val,ENST00000330289,;SLC12A1,missense_variant,p.Ala108Val,ENST00000561031,;SLC12A1,intron_variant,,ENST00000559641,;CTXN2,downstream_gene_variant,,ENST00000417307,NM_001145668.1;SLC12A1,intron_variant,,ENST00000561127,;							MODERATE	323/3300	A108V	S12A1_HUMAN			Transcript		benign(0.248)	.	ENSP00000370381		CCDS10129.2			1	
AGBL2	0	LGGM	GRCh37	11	47713672	47713672	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	48	4	.	.	ENST00000525123.1:c.831G>A	p.Leu277=	p.L277=	ENST00000525123	NM_024783.3	277	ctG/ctA	0	1	1	UPI00001A95E3	0		ENST00000525123		ENSG00000165923	26296		52			HGNC	p.L239L		AGBL2		SNV							ENST00000528244	protein_coding			hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF7		L		T		1117/3577				E9PJH3_HUMAN,E9PI49_HUMAN			YES	AGBL2,synonymous_variant,p.=,ENST00000525123,NM_024783.3;AGBL2,synonymous_variant,p.=,ENST00000357610,;AGBL2,synonymous_variant,p.=,ENST00000298861,;AGBL2,synonymous_variant,p.=,ENST00000528244,;AGBL2,synonymous_variant,p.=,ENST00000532595,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,downstream_gene_variant,,ENST00000526331,;AGBL2,upstream_gene_variant,,ENST00000528609,;							LOW	831/2709		CBPC2_HUMAN			Transcript			.	ENSP00000435582		CCDS7944.1			1	
PIP5K1C	0	LGGM	GRCh37	19	3643278	3643278	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	13	4	.	.	ENST00000335312.3:c.1612C>T	p.Arg538Trp	p.R538W	ENST00000335312	NM_012398.2	538	Cgg/Tgg	0	1	1	UPI000019C574	0	NA	ENST00000335312		ENSG00000186111	8996		17	1.735		HGNC	p.R538W	rs774067623	PIP5K1C		SNV			1				ENST00000537021	protein_coding	getma.org/?cm=var&var=hg19,19,3643278,G,A&fts=all				R/W		A	low	1701/5080	1.51E-05	getma.org/?cm=msa&ty=f&p=PI51C_HUMAN&rb=444&re=643&var=R538W	deleterious_low_confidence(0)	Q7LE22_HUMAN			YES	PIP5K1C,missense_variant,p.Arg538Trp,ENST00000335312,NM_012398.2,NM_001195733.1;PIP5K1C,missense_variant,p.Arg538Trp,ENST00000537021,;PIP5K1C,missense_variant,p.Arg538Trp,ENST00000589578,;PIP5K1C,missense_variant,p.Arg538Trp,ENST00000539785,;PIP5K1C,downstream_gene_variant,,ENST00000592530,;							MODERATE	1612/2007	R538W	PI51C_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000335333	8.24E-06	CCDS32872.1			1	
VWF	0	LGGM	GRCh37	12	6061656	6061656	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	11	4	.	.	ENST00000261405.5:c.8016T>A	p.Asp2672Glu	p.D2672E	ENST00000261405	NM_000552.3	2672	gaT/gaA	0	1	1	UPI00001AE7EE	0	NA	ENST00000261405		ENSG00000110799	12726		15	1.965		HGNC	p.D2672E		VWF		SNV			1				ENST00000261405	protein_coding	getma.org/?cm=var&var=hg19,12,6061656,A,T&fts=all		PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259		D/E		T	medium	8271/8838		getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=2645&re=2813&var=D2672E	deleterious(0.01)	H2DLA2_HUMAN			YES	VWF,missense_variant,p.Asp2672Glu,ENST00000261405,NM_000552.3;							MODERATE	8016/8442	D2672E	VWF_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000261405		CCDS8539.1			1	
CHAF1A	0	LGGM	GRCh37	19	4409440	4409440	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	7	5	.	.	ENST00000301280.5:c.644G>C	p.Arg215Thr	p.R215T	ENST00000301280	NM_005483.2	215	aGa/aCa	0	1	1	UPI00002030F8	0	NA	ENST00000301280		ENSG00000167670	1910		12	1.61		HGNC	p.R215T		CHAF1A		SNV							ENST00000301280	protein_coding	getma.org/?cm=var&var=hg19,19,4409440,G,C&fts=all		Pfam_domain:PF15557,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0		R/T		C	low	745/3339		getma.org/?cm=msa&ty=f&p=CAF1A_HUMAN&rb=1&re=225&var=R215T	tolerated_low_confidence(0.3)				YES	CHAF1A,missense_variant,p.Arg215Thr,ENST00000301280,NM_005483.2;CHAF1A,upstream_gene_variant,,ENST00000587739,;CHAF1A,downstream_gene_variant,,ENST00000585854,;CHAF1A,downstream_gene_variant,,ENST00000587580,;							MODERATE	644/2871	R215T	CAF1A_HUMAN			Transcript		unknown(0)	.	ENSP00000301280		CCDS32875.1			1	
FDPS	0	LGGM	GRCh37	1	155282091	155282091	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	49	5	.	.	ENST00000356657.6:c.385A>T	p.Thr129Ser	p.T129S	ENST00000356657	NM_001135821.1	129	Acg/Tcg	0	1	1	UPI000006E4F7	0	getma.org/pdb.php?prot=FPPS_HUMAN&from=110&to=382&var=T129S	ENST00000356657		ENSG00000160752	3631		54	0.555		HGNC	p.T129S		FDPS		SNV							ENST00000356657	protein_coding	getma.org/?cm=var&var=hg19,1,155282091,A,T&fts=all		Gene3D:1.10.600.10,Pfam_domain:PF00348,hmmpanther:PTHR11525,hmmpanther:PTHR11525:SF0,Superfamily_domains:SSF48576		T/S		T	neutral	547/1478		getma.org/?cm=msa&ty=f&p=FPPS_HUMAN&rb=110&re=382&var=T129S	tolerated(1)				YES	FDPS,missense_variant,p.Thr129Ser,ENST00000356657,NM_001135821.1;FDPS,missense_variant,p.Thr129Ser,ENST00000368356,NM_002004.3;FDPS,missense_variant,p.Thr63Ser,ENST00000447866,NM_001242825.1,NM_001135822.1,NM_001242824.1;RUSC1-AS1,downstream_gene_variant,,ENST00000446880,;FDPS,non_coding_transcript_exon_variant,,ENST00000487002,;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,,ENST00000465559,;FDPS,non_coding_transcript_exon_variant,,ENST00000471117,;							MODERATE	385/1260	T129S	FPPS_HUMAN			Transcript		benign(0.076)	.	ENSP00000349078		CCDS1110.1			1	
GOLGA3	0	LGGM	GRCh37	12	133393292	133393292	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	17	6	.	.	ENST00000204726.3:c.240G>A	p.Ser80=	p.S80=	ENST00000204726	NM_005895.3	80	tcG/tcA	0	1	1	UPI0000190979	0		ENST00000204726		ENSG00000090615	4426		23			HGNC	p.S80S	rs780020962,COSM2002219,COSM2002221,COSM2002220	GOLGA3		SNV						0,1,1,1	ENST00000537452	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902		S		T		799/9252	1.50E-05						YES	GOLGA3,synonymous_variant,p.=,ENST00000204726,NM_005895.3;GOLGA3,synonymous_variant,p.=,ENST00000450791,;GOLGA3,synonymous_variant,p.=,ENST00000456883,;GOLGA3,synonymous_variant,p.=,ENST00000545875,NM_001172557.1;GOLGA3,synonymous_variant,p.=,ENST00000537452,;					0,1,1,1		LOW	240/4497		GOGA3_HUMAN			Transcript			.	ENSP00000204726	8.24E-06	CCDS9281.1			1	
SUFU	0	LGGM	GRCh37	10	104357047	104357047	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	11	6	.	.	ENST00000369902.3:c.907A>C	p.Lys303Gln	p.K303Q	ENST00000369902	NM_016169.3	303	Aaa/Caa	0	1	1	UPI0000073C79	0	NA	ENST00000369902		ENSG00000107882	16466		17	1.04		HGNC	p.K303Q		SUFU		SNV			1				ENST00000423559	protein_coding	getma.org/?cm=var&var=hg19,10,104357047,A,C&fts=all		Pfam_domain:PF12470,PIRSF_domain:PIRSF011844,hmmpanther:PTHR10928,hmmpanther:PTHR10928:SF2		K/Q		C	low	1073/5001		getma.org/?cm=msa&ty=f&p=SUFU_HUMAN&rb=252&re=473&var=K303Q	tolerated(0.41)				YES	SUFU,missense_variant,p.Lys303Gln,ENST00000369902,NM_016169.3;SUFU,missense_variant,p.Lys303Gln,ENST00000423559,;SUFU,missense_variant,p.Lys303Gln,ENST00000369899,NM_001178133.1;SUFU,non_coding_transcript_exon_variant,,ENST00000471000,;							MODERATE	907/1455	K303Q	SUFU_HUMAN			Transcript		benign(0.036)	.	ENSP00000358918		CCDS7537.1			1	
CLCA1	0	LGGM	GRCh37	1	86959278	86959278	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	19	6	.	.	ENST00000234701.3:c.1676C>T	p.Ala559Val	p.A559V	ENST00000234701		559	gCt/gTt	0	1	1	UPI00001AE689	0	NA	ENST00000234701		ENSG00000016490	2015		25	3.095		HGNC	p.A559V		CLCA1		SNV							ENST00000234701	protein_coding	getma.org/?cm=var&var=hg19,1,86959278,C,T&fts=all		hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868		A/V		T	medium	2027/3310		getma.org/?cm=msa&ty=f&p=CLCA1_HUMAN&rb=486&re=660&var=A559V	deleterious(0)				YES	CLCA1,missense_variant,p.Ala559Val,ENST00000234701,;CLCA1,missense_variant,p.Ala559Val,ENST00000394711,NM_001285.3;							MODERATE	1676/2745	A559V	CLCA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000234701		CCDS709.1			1	
SPAG17	0	LGGM	GRCh37	1	118514671	118514671	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	5	7	.	.	ENST00000336338.5:c.6142-1G>T		p.X2048_splice	ENST00000336338	NM_206996.2			0	1	1	UPI00001601FD	0		ENST00000336338		ENSG00000155761	26620		12			HGNC	-		SPAG17		SNV							ENST00000336338	protein_coding							A		-/6924				A7LBF9_HUMAN			YES	SPAG17,splice_acceptor_variant,,ENST00000336338,NM_206996.2;SPAG17,splice_acceptor_variant,,ENST00000437255,;SPAG17,splice_acceptor_variant,,ENST00000492438,;SPAG17,upstream_gene_variant,,ENST00000469128,;SPAG17,downstream_gene_variant,,ENST00000483383,;							HIGH	6142/6672		SPG17_HUMAN			Transcript			.	ENSP00000337804		CCDS899.1			1	
CCT5	0	LGGM	GRCh37	5	10263420	10263420	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	9	7	.	.	ENST00000280326.4:c.1492A>T	p.Thr498Ser	p.T498S	ENST00000280326	NM_012073.3	498	Aca/Tca	0	1	1	UPI0000001C34	0	getma.org/pdb.php?prot=TCPE_HUMAN&from=44&to=537&var=T498S	ENST00000280326		ENSG00000150753	1618		16	1.565		HGNC	p.T477S		CCT5		SNV			1				ENST00000503026	protein_coding	getma.org/?cm=var&var=hg19,5,10263420,A,T&fts=all		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02343		T/S		T	low	1912/3675		getma.org/?cm=msa&ty=f&p=TCPE_HUMAN&rb=44&re=537&var=T498S	tolerated(0.3)	Q9HB74_HUMAN,Q9BU08_HUMAN,Q96GI1_HUMAN,B7ZAR1_HUMAN			YES	CCT5,missense_variant,p.Thr498Ser,ENST00000280326,NM_012073.3;CCT5,missense_variant,p.Thr460Ser,ENST00000515676,;CCT5,missense_variant,p.Thr405Ser,ENST00000506600,;CCT5,missense_variant,p.Thr477Ser,ENST00000503026,;CCT5,missense_variant,p.Thr443Ser,ENST00000515390,;CTD-2256P15.4,downstream_gene_variant,,ENST00000606194,;CCT5,non_coding_transcript_exon_variant,,ENST00000511995,;CCT5,downstream_gene_variant,,ENST00000423695,;CCT5,downstream_gene_variant,,ENST00000503454,;CCT5,downstream_gene_variant,,ENST00000512975,;CCT5,downstream_gene_variant,,ENST00000514674,;CCT5,downstream_gene_variant,,ENST00000509846,;							MODERATE	1492/1626	T498S	TCPE_HUMAN			Transcript		benign(0.074)	.	ENSP00000280326		CCDS3877.1			1	
ARHGEF17	0	LGGM	GRCh37	11	73068294	73068294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	7	8	.	.	ENST00000263674.3:c.4009G>A	p.Ala1337Thr	p.A1337T	ENST00000263674	NM_014786.3	1337	Gca/Aca	0	1	1	UPI000004980B	0	NA	ENST00000263674		ENSG00000110237	21726		15	1.61		HGNC	p.A1337T		ARHGEF17		SNV							ENST00000263674	protein_coding	getma.org/?cm=var&var=hg19,11,73068294,G,A&fts=all		hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Gene3D:2.30.29.30,Superfamily_domains:SSF50729		A/T		A	low	4359/7853		getma.org/?cm=msa&ty=f&p=ARHGH_HUMAN&rb=1298&re=1738&var=A1337T	deleterious(0.02)				YES	ARHGEF17,missense_variant,p.Ala1337Thr,ENST00000263674,NM_014786.3;AP002761.1,downstream_gene_variant,,ENST00000582555,;ARHGEF17,downstream_gene_variant,,ENST00000536170,;ARHGEF17,downstream_gene_variant,,ENST00000537198,;							MODERATE	4009/6192	A1337T	ARHGH_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000263674		CCDS8221.1			1	
PXDN	0	LGGM	GRCh37	2	1653317	1653317	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	21	8	.	.	ENST00000252804.4:c.2235C>T	p.Asp745=	p.D745=	ENST00000252804	NM_012293.1	745	gaC/gaT	0	1	1	UPI00001C1DC2	0		ENST00000252804		ENSG00000130508	14966	8.64E-05	29			HGNC	p.D745D	rs553601622	PXDN		SNV			1	0.000102			ENST00000252804	protein_coding		A:0.0008	PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		D		A		2286/6808	1.50E-05				A:0	A:0	YES	PXDN,synonymous_variant,p.=,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;		A:0.0002					LOW	2235/4440		PXDN_HUMAN		A:0	Transcript			.	ENSP00000252804	2.48E-05	CCDS46221.1		A:0	1	
EPB41L3	0	LGGM	GRCh37	18	5423540	5423540	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H070487	H070487N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	7	9	.	.	ENST00000341928.2:c.1176del	p.Glu393LysfsTer8	p.E393Kfs*8	ENST00000341928	NM_012307.3	392	ccA/cc	0	1	1	UPI0000129AFA	0		ENST00000341928		ENSG00000082397	3380		16			HGNC	p.P49fs		EPB41L3		deletion							ENST00000584670	protein_coding			hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729		P/X		-		1517/4706				J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN			YES	EPB41L3,frameshift_variant,p.Glu393LysfsTer8,ENST00000341928,NM_012307.3;EPB41L3,frameshift_variant,p.Glu393LysfsTer8,ENST00000342933,;EPB41L3,frameshift_variant,p.Glu393LysfsTer8,ENST00000540638,NM_001281534.1;EPB41L3,frameshift_variant,p.Glu393LysfsTer8,ENST00000544123,NM_001281533.1;EPB41L3,frameshift_variant,p.Glu393LysfsTer8,ENST00000400111,;EPB41L3,frameshift_variant,p.Glu50LysfsTer8,ENST00000584670,;EPB41L3,upstream_gene_variant,,ENST00000542146,;EPB41L3,upstream_gene_variant,,ENST00000427684,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581661,;EPB41L3,upstream_gene_variant,,ENST00000578524,;EPB41L3,upstream_gene_variant,,ENST00000579271,;EPB41L3,upstream_gene_variant,,ENST00000581387,;EPB41L3,upstream_gene_variant,,ENST00000580647,;EPB41L3,upstream_gene_variant,,ENST00000580316,;EPB41L3,upstream_gene_variant,,ENST00000578395,;EPB41L3,upstream_gene_variant,,ENST00000581292,;EPB41L3,upstream_gene_variant,,ENST00000578196,;							HIGH	1176/3264		E41L3_HUMAN			Transcript			.	ENSP00000343158		CCDS11838.1			1	
TMEM202	0	LGGM	GRCh37	15	72700169	72700169	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	14	9	.	.	ENST00000341689.3:c.757A>T	p.Arg253Trp	p.R253W	ENST00000341689	NM_001080462.1	253	Agg/Tgg	0	1	1	UPI000049DDE8	0	NA	ENST00000341689		ENSG00000187806	33733		23	1.5		HGNC	p.R253W		TMEM202		SNV							ENST00000341689	protein_coding	getma.org/?cm=var&var=hg19,15,72700169,A,T&fts=all		hmmpanther:PTHR10671:SF31,hmmpanther:PTHR10671		R/W		T	low	811/1012		getma.org/?cm=msa&ty=f&p=TM202_HUMAN&rb=211&re=273&var=R253W	deleterious(0.02)				YES	TMEM202,missense_variant,p.Arg253Trp,ENST00000341689,NM_001080462.1;TMEM202,3_prime_UTR_variant,,ENST00000567679,;RP11-1007O24.3,non_coding_transcript_exon_variant,,ENST00000562573,;TMEM202,3_prime_UTR_variant,,ENST00000568167,;							MODERATE	757/822	R253W	TM202_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000340212		CCDS32287.1			1	
OR51F2	0	LGGM	GRCh37	11	4843563	4843563	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	27	10	.	.	ENST00000322110.5:c.948C>T	p.Ala316=	p.A316=	ENST00000322110	NM_001004753.1	316	gcC/gcT	0	1	1	UPI000004B219	0		ENST00000322110		ENSG00000176925	15197		37			HGNC	p.A316A	COSM1561385	OR51F2		SNV						1	ENST00000322110	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF87,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		A		T		1013/1136							YES	OR51F2,synonymous_variant,p.=,ENST00000322110,NM_001004753.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;					1		LOW	948/1029		O51F2_HUMAN			Transcript			.	ENSP00000323952		CCDS31361.1			1	
SCN3A	0	LGGM	GRCh37	2	165997509	165997509	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	14	11	.	.	ENST00000283254.7:c.1672-1G>A		p.X558_splice	ENST00000283254	NM_001081676.1			0	1		UPI00001279CC	0		ENST00000360093		ENSG00000153253	10590		25			HGNC	-		SCN3A		SNV							ENST00000360093	protein_coding							T		-/9123				Q9GZM4_HUMAN,F5H4V8_HUMAN,C9JBM7_HUMAN				SCN3A,splice_acceptor_variant,,ENST00000360093,NM_001081677.1;SCN3A,splice_acceptor_variant,,ENST00000283254,NM_001081676.1,NM_006922.3;SCN3A,splice_acceptor_variant,,ENST00000409101,;SCN3A,splice_acceptor_variant,,ENST00000440431,;							HIGH	1672/6003		SCN3A_HUMAN			Transcript			.	ENSP00000353206					1	
LUC7L	0	LGGM	GRCh37	16	249214	249214	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	14	11	.	.	ENST00000293872.8:c.534T>A	p.Pro178=	p.P178=	ENST00000293872	NM_201412.1	178	ccT/ccA	0	1	1	UPI00000467F8	0		ENST00000293872		ENSG00000007392	6723		25			HGNC	p.P178P		LUC7L		SNV							ENST00000397783	protein_coding			hmmpanther:PTHR12375:SF31,hmmpanther:PTHR12375,Pfam_domain:PF03194		P		T		645/1456				Q1W6G4_HUMAN,B8ZZ12_HUMAN,B8ZZ10_HUMAN,B8ZZ09_HUMAN,A8MYV2_HUMAN,D3DU41_HUMAN			YES	LUC7L,synonymous_variant,p.=,ENST00000337351,NM_018032.3;LUC7L,synonymous_variant,p.=,ENST00000397783,;LUC7L,synonymous_variant,p.=,ENST00000293872,NM_201412.1;LUC7L,synonymous_variant,p.=,ENST00000397780,;LUC7L,synonymous_variant,p.=,ENST00000430864,;LUC7L,intron_variant,,ENST00000429378,;LUC7L,3_prime_UTR_variant,,ENST00000426094,;LUC7L,3_prime_UTR_variant,,ENST00000419516,;LUC7L,3_prime_UTR_variant,,ENST00000418978,;LUC7L,non_coding_transcript_exon_variant,,ENST00000490762,;LUC7L,non_coding_transcript_exon_variant,,ENST00000464711,;LUC7L,non_coding_transcript_exon_variant,,ENST00000495349,;							LOW	534/1116		LUC7L_HUMAN			Transcript			.	ENSP00000293872		CCDS32348.1			1	
MYO1F	0	LGGM	GRCh37	19	8616668	8616668	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	10	12	.	.	ENST00000338257.8:c.727C>A	p.Gln243Lys	p.Q243K	ENST00000338257	NM_012335.3	243	Cag/Aag	0	1	1	UPI00001678F0	0	getma.org/pdb.php?prot=MYO1F_HUMAN&from=19&to=677&var=Q243K	ENST00000338257		ENSG00000142347	7600		22	-1.97		HGNC	p.Q243K		MYO1F		SNV							ENST00000338257	protein_coding	getma.org/?cm=var&var=hg19,19,8616668,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,PROSITE_profiles:PS51456		Q/K		T	neutral	995/4303		getma.org/?cm=msa&ty=f&p=MYO1F_HUMAN&rb=19&re=677&var=Q243K	tolerated(1)	Q14779_HUMAN,M0QXU2_HUMAN			YES	MYO1F,missense_variant,p.Gln243Lys,ENST00000338257,NM_012335.3;MYO1F,downstream_gene_variant,,ENST00000596675,;AC092316.2,downstream_gene_variant,,ENST00000581156,;AC092316.1,downstream_gene_variant,,ENST00000598703,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594977,;MYO1F,non_coding_transcript_exon_variant,,ENST00000595325,;MYO1F,non_coding_transcript_exon_variant,,ENST00000598529,;MYO1F,downstream_gene_variant,,ENST00000594774,;MYO1F,upstream_gene_variant,,ENST00000595191,;MYO1F,upstream_gene_variant,,ENST00000602136,;MYO1F,downstream_gene_variant,,ENST00000598321,;MYO1F,downstream_gene_variant,,ENST00000596645,;MYO1F,upstream_gene_variant,,ENST00000600825,;MYO1F,downstream_gene_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000596937,;							MODERATE	727/3297	Q243K	MYO1F_HUMAN			Transcript		benign(0)	.	ENSP00000344871		CCDS42494.1			1	
NMUR2	0	LGGM	GRCh37	5	151775085	151775085	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	31	12	.	.	ENST00000255262.3:c.872T>A	p.Phe291Tyr	p.F291Y	ENST00000255262	NM_020167.4	291	tTc/tAc	0	1	1	UPI000013CE9D	0	getma.org/pdb.php?prot=NMUR2_HUMAN&from=62&to=327&var=F291Y	ENST00000255262		ENSG00000132911	16454		43	1.3		HGNC	p.F291Y		NMUR2		SNV							ENST00000255262	protein_coding	getma.org/?cm=var&var=hg19,5,151775085,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01565,Prints_domain:PR01567,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Superfamily_domains:SSF81321		F/Y		T	low	1038/2073		getma.org/?cm=msa&ty=f&p=NMUR2_HUMAN&rb=62&re=327&var=F291Y	deleterious(0.03)				YES	NMUR2,missense_variant,p.Phe291Tyr,ENST00000255262,NM_020167.4;NMUR2,non_coding_transcript_exon_variant,,ENST00000518933,;							MODERATE	872/1248	F291Y	NMUR2_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000255262		CCDS4321.1			1	
BHMT2	0	LGGM	GRCh37	5	78375242	78375242	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	28	13	.	.	ENST00000255192.3:c.217A>T	p.Thr73Ser	p.T73S	ENST00000255192	NM_017614.4	73	Act/Tct	0	1	1	UPI00000701B9	0	getma.org/pdb.php?prot=BHMT2_HUMAN&from=20&to=307&var=T73S	ENST00000255192		ENSG00000132840	1048		41	2.745		HGNC	p.T13S		BHMT2		SNV							ENST00000518666	protein_coding	getma.org/?cm=var&var=hg19,5,78375242,A,T&fts=all		Gene3D:3.20.20.330,Pfam_domain:PF02574,PIRSF_domain:PIRSF037505,PROSITE_profiles:PS50970,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF94,Superfamily_domains:SSF82282		T/S		T	medium	283/2050		getma.org/?cm=msa&ty=f&p=BHMT2_HUMAN&rb=20&re=307&var=T73S	deleterious(0.04)	E5RH96_HUMAN			YES	BHMT2,missense_variant,p.Thr73Ser,ENST00000255192,NM_017614.4;BHMT2,missense_variant,p.Thr73Ser,ENST00000521567,NM_001178005.1;BHMT2,missense_variant,p.Thr13Ser,ENST00000518666,;DMGDH,intron_variant,,ENST00000520388,;BHMT2,missense_variant,p.Asp52Val,ENST00000519743,;BHMT2,non_coding_transcript_exon_variant,,ENST00000518758,;BHMT2,downstream_gene_variant,,ENST00000523472,;BHMT2,upstream_gene_variant,,ENST00000523046,;							MODERATE	217/1092	T73S	BHMT2_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000255192		CCDS4045.1			1	
KIF16B	0	LGGM	GRCh37	20	16486445	16486445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	5	15	.	.	ENST00000408042.1:c.922G>T	p.Val308Leu	p.V308L	ENST00000408042	NM_001199866.1	308	Gtg/Ttg	0	1		UPI0000206A5A	0	getma.org/pdb.php?prot=KI16B_HUMAN&from=9&to=358&var=V308L	ENST00000354981		ENSG00000089177	15869		20	3.76		HGNC	p.V308L		KIF16B		SNV							ENST00000355755	protein_coding	getma.org/?cm=var&var=hg19,20,16486445,C,A&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF400,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380		V/L		A	high	1080/5261		getma.org/?cm=msa&ty=f&p=KI16B_HUMAN&rb=9&re=358&var=V308L	deleterious(0)					KIF16B,missense_variant,p.Val308Leu,ENST00000354981,NM_024704.4,NM_001199865.1;KIF16B,missense_variant,p.Val308Leu,ENST00000355755,;KIF16B,missense_variant,p.Val308Leu,ENST00000408042,NM_001199866.1;KIF16B,5_prime_UTR_variant,,ENST00000378003,;							MODERATE	922/3954	V308L	KI16B_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000347076		CCDS13122.1			1	
SPC25	0	LGGM	GRCh37	2	169745770	169745770	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H070487	H070487N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	14	16	.	.	ENST00000282074.2:c.165A>G	p.Glu55=	p.E55=	ENST00000282074	NM_020675.3	55	gaA/gaG	0	1	1	UPI000006D2C9	0		ENST00000282074		ENSG00000152253	24031		30			HGNC	p.E55E		SPC25		SNV							ENST00000282074	protein_coding			hmmpanther:PTHR14281		E		C		307/1354				C9JW94_HUMAN			YES	SPC25,synonymous_variant,p.=,ENST00000282074,NM_020675.3;SPC25,synonymous_variant,p.=,ENST00000451987,;SPC25,non_coding_transcript_exon_variant,,ENST00000472216,;SPC25,non_coding_transcript_exon_variant,,ENST00000479309,;							LOW	165/675		SPC25_HUMAN			Transcript			.	ENSP00000282074		CCDS2229.1			1	
OR51E1	0	LGGM	GRCh37	11	4673857	4673857	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H070487	H070487N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	21	16	.	.	ENST00000396952.5:c.101T>C	p.Leu34Ser	p.L34S	ENST00000396952	NM_152430.3	34	tTg/tCg	0	1	1	UPI000003ACE2	0	NA	ENST00000396952		ENSG00000180785	15194		37	2.485		HGNC	p.L34S		OR51E1		SNV							ENST00000530215	protein_coding	getma.org/?cm=var&var=hg19,11,4673857,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF34,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/S		C	medium	751/3612		getma.org/?cm=msa&ty=f&p=O51E1_HUMAN&rb=1&re=42&var=L33S	deleterious(0)				YES	OR51E1,missense_variant,p.Leu34Ser,ENST00000396952,NM_152430.3;OR51E1,missense_variant,p.Leu34Ser,ENST00000530215,;							MODERATE	101/957	L33S	O51E1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380155		CCDS31358.2			1	
WAPAL	0	LGGM	GRCh37	10	88197715	88197715	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	29	16	.	.	ENST00000298767.5:c.3469G>A	p.Glu1157Lys	p.E1157K	ENST00000298767	NM_015045.2	1157	Gag/Aag	0	1	1	UPI00001AE41A	0	NA	ENST00000298767		ENSG00000062650	23293		45	1.795		HGNC	p.E1242K		WAPAL		SNV							ENST00000342368	protein_coding	getma.org/?cm=var&var=hg19,10,88197715,C,T&fts=all		PROSITE_profiles:PS51271,hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100		E/K		T	low	3942/6333		getma.org/?cm=msa&ty=f&p=WAPL_HUMAN&rb=626&re=1169&var=E1157K	tolerated(0.06)	B3Y1W2_HUMAN,B2RTX8_HUMAN			YES	WAPAL,missense_variant,p.Glu1157Lys,ENST00000298767,NM_015045.2;WAPAL,missense_variant,p.Glu369Lys,ENST00000263070,;WAPAL,missense_variant,p.Glu369Lys,ENST00000372075,;WAPAL,non_coding_transcript_exon_variant,,ENST00000484070,;							MODERATE	3469/3573	E1157K	WAPL_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000298767		CCDS7375.1			1	
ZNF714	0	LGGM	GRCh37	19	21300752	21300752	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	29	17	.	.	ENST00000596143.1:c.1282G>C	p.Glu428Gln	p.E428Q	ENST00000596143	NM_182515.3	428	Gaa/Caa	0	1	1	UPI000059D6C5	0	getma.org/pdb.php?prot=ZN714_HUMAN&from=411&to=436&var=E429Q	ENST00000596143		ENSG00000160352	27124		46	-0.73		HGNC	p.E428Q	COSM1524258,COSM1524259	ZNF714		SNV						1,1	ENST00000600435	protein_coding	getma.org/?cm=var&var=hg19,19,21300752,G,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF104,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/Q		C	neutral	1607/6809		getma.org/?cm=msa&ty=f&p=ZN714_HUMAN&rb=391&re=456&var=E429Q	deleterious(0.02)	M0R2G4_HUMAN,M0QYV9_HUMAN			YES	ZNF714,missense_variant,p.Glu428Gln,ENST00000596143,NM_182515.3;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000597086,;ZNF714,downstream_gene_variant,,ENST00000596367,;ZNF714,downstream_gene_variant,,ENST00000597424,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.Glu428Gln,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;					1,1		MODERATE	1282/1665	E429Q	ZN714_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000472368		CCDS54239.1			1	
NEO1	0	LGGM	GRCh37	15	73528723	73528723	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	36	18	.	.	ENST00000339362.5:c.1327C>T	p.Arg443Trp	p.R443W	ENST00000339362		443	Cgg/Tgg	0	1		UPI000013D221	0	getma.org/pdb.php?prot=NEO1_HUMAN&from=440&to=525&var=R443W	ENST00000261908		ENSG00000067141	7754		54	3.43		HGNC	p.R443W	rs774025786	NEO1		SNV							ENST00000558964	protein_coding	getma.org/?cm=var&var=hg19,15,73528723,C,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/W		T	medium	1519/7088	1.50E-05	getma.org/?cm=msa&ty=f&p=NEO1_HUMAN&rb=440&re=525&var=R443W	deleterious(0)					NEO1,missense_variant,p.Arg443Trp,ENST00000339362,;NEO1,missense_variant,p.Arg443Trp,ENST00000261908,NM_002499.3,NM_001172624.1,NM_001172623.1;NEO1,missense_variant,p.Arg139Trp,ENST00000560328,;NEO1,missense_variant,p.Arg443Trp,ENST00000558964,;NEO1,missense_variant,p.Arg443Trp,ENST00000560262,;NEO1,non_coding_transcript_exon_variant,,ENST00000560352,;NEO1,non_coding_transcript_exon_variant,,ENST00000560407,;							MODERATE	1327/4386	R443W	NEO1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261908	8.24E-06	CCDS10247.1			1	
POTEH	0	LGGM	GRCh37	22	16287728	16287728	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	179	18	.	.	ENST00000343518.6:c.158C>A	p.Ala53Asp	p.A53D	ENST00000343518	NM_001136213.1	53	gCt/gAt	0	1	1	UPI0000E5A425	0	NA	ENST00000343518		ENSG00000198062	133		197	0.695		HGNC	p.A53D		POTEH		SNV							ENST00000343518	protein_coding	getma.org/?cm=var&var=hg19,22,16287728,G,T&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		A/D		T	neutral	210/1928		getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=40&re=179&var=A53D	deleterious_low_confidence(0)				YES	POTEH,missense_variant,p.Ala53Asp,ENST00000343518,NM_001136213.1;POTEH,upstream_gene_variant,,ENST00000452800,;							MODERATE	158/1638	A53D	POTEH_HUMAN			Transcript		unknown(0)	.	ENSP00000340610		CCDS46658.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147183112	147183112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	20	19	.	.	ENST00000361727.3:c.1756A>G	p.Ser586Gly	p.S586G	ENST00000361727	NM_014141.5	586	Agt/Ggt	0	1	1	UPI00001285FA	0	NA	ENST00000361727		ENSG00000174469	13830	8.64E-05	39	0.97		HGNC	p.S586G	rs765801400	CNTNAP2		SNV			1	0.000192			ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,147183112,A,G&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF00008,SMART_domains:SM00181,Superfamily_domains:SSF56496,Superfamily_domains:SSF57196		S/G		G	low	2272/9894	4.50E-05	getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=558&re=589&var=S586G	deleterious(0.02)	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			YES	CNTNAP2,missense_variant,p.Ser586Gly,ENST00000361727,NM_014141.5;	0.000116						MODERATE	1756/3996	S586G	CNTP2_HUMAN	0.000305		Transcript		benign(0.035)	.	ENSP00000354778	9.88E-05	CCDS5889.1	0.0011		1	
TRPC6	0	LGGM	GRCh37	11	101375438	101375438	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	24	19	.	.	ENST00000344327.3:c.262T>C	p.Phe88Leu	p.F88L	ENST00000344327	NM_004621.5	88	Ttt/Ctt	0	1	1	UPI00001374BA	0	NA	ENST00000344327		ENSG00000137672	12338		43	1.495		HGNC	p.F88L		TRPC6		SNV			1				ENST00000344327	protein_coding	getma.org/?cm=var&var=hg19,11,101375438,A,G&fts=all		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7,TIGRFAM_domain:TIGR00870		F/L		G	low	687/4612		getma.org/?cm=msa&ty=f&p=TRPC6_HUMAN&rb=1&re=101&var=F88L	deleterious(0.02)	B3KNL3_HUMAN			YES	TRPC6,missense_variant,p.Phe88Leu,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Phe88Leu,ENST00000532133,;TRPC6,missense_variant,p.Phe88Leu,ENST00000360497,;TRPC6,missense_variant,p.Phe88Leu,ENST00000348423,;TRPC6,non_coding_transcript_exon_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;							MODERATE	262/2796	F88L	TRPC6_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000340913		CCDS8311.1			1	
ABI3BP	0	LGGM	GRCh37	3	100489665	100489665	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	30	21	.	.	ENST00000284322.5:c.2530C>G	p.Leu844Val	p.L844V	ENST00000284322	NM_015429.3	844	Ctc/Gtc	0	1	1	UPI000011C136	0	getma.org/pdb.php?prot=TARSH_HUMAN&from=839&to=923&var=L844V	ENST00000284322		ENSG00000154175	17265		51	1.495		HGNC	p.L798V		ABI3BP		SNV							ENST00000383691	protein_coding	getma.org/?cm=var&var=hg19,3,100489665,G,C&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR23197,PROSITE_profiles:PS50853		L/V		C	low	2640/4498		getma.org/?cm=msa&ty=f&p=TARSH_HUMAN&rb=839&re=923&var=L844V	deleterious(0)				YES	ABI3BP,missense_variant,p.Leu1546Val,ENST00000471714,;ABI3BP,missense_variant,p.Leu844Val,ENST00000284322,NM_015429.3;ABI3BP,missense_variant,p.Leu798Val,ENST00000383691,;ABI3BP,missense_variant,p.Leu900Val,ENST00000495591,;ABI3BP,downstream_gene_variant,,ENST00000486770,;ABI3BP,downstream_gene_variant,,ENST00000497395,;ABI3BP,downstream_gene_variant,,ENST00000469764,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,upstream_gene_variant,,ENST00000497021,;							MODERATE	2530/3228	L844V	TARSH_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000284322		CCDS46880.1			1	
CXorf30	0	LGGM	GRCh37	X	36371745	36371745	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	21	22	.	.	ENST00000378657.4:c.1138G>T	p.Val380Phe	p.V380F	ENST00000378657	NM_001098843.4	380	Gtt/Ttt	0	1	1	UPI0001642840	0	NA	ENST00000378657		ENSG00000205081	27298		43	-0.46		HGNC	p.V665F		CXorf30		SNV							ENST00000378653	protein_coding	getma.org/?cm=var&var=hg19,X,36371745,G,T&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF7		V/F		T	neutral	1786/2860		getma.org/?cm=msa&ty=f&p=CX030_HUMAN&rb=1&re=631&var=V380F	tolerated(1)				YES	CXorf30,missense_variant,p.Val380Phe,ENST00000378657,NM_001098843.4;CXorf30,missense_variant,p.Val665Phe,ENST00000378653,;							MODERATE	1138/1902	V380F	CX030_HUMAN			Transcript		benign(0.001)	.	ENSP00000367926		CCDS55396.1			1	
CD86	0	LGGM	GRCh37	3	121828147	121828147	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	27	23	.	.	ENST00000330540.2:c.739C>A	p.Pro247Thr	p.P247T	ENST00000330540	NM_175862.4	247	Cct/Act	0	1	1	UPI00001AFC7C	0	NA	ENST00000330540		ENSG00000114013	1705		50	1.1		HGNC	p.P165T		CD86		SNV							ENST00000469710	protein_coding	getma.org/?cm=var&var=hg19,3,121828147,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF203		P/T		A	low	855/2708		getma.org/?cm=msa&ty=f&p=CD86_HUMAN&rb=237&re=329&var=P247T	tolerated(0.44)	C9JXS1_HUMAN			YES	CD86,missense_variant,p.Pro247Thr,ENST00000330540,NM_175862.4;CD86,missense_variant,p.Pro34Thr,ENST00000264468,;CD86,missense_variant,p.Pro165Thr,ENST00000469710,NM_001206925.1;CD86,missense_variant,p.Pro135Thr,ENST00000493101,NM_001206924.1;CD86,missense_variant,p.Pro241Thr,ENST00000393627,NM_006889.4;CD86,intron_variant,,ENST00000478741,;CD86,downstream_gene_variant,,ENST00000482356,;							MODERATE	739/990	P247T	CD86_HUMAN			Transcript		benign(0.002)	.	ENSP00000332049		CCDS3009.1			1	
PMS1	0	LGGM	GRCh37	2	190670447	190670447	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	47	23	.	.	ENST00000441310.2:c.385A>T	p.Ile129Leu	p.I129L	ENST00000441310	NM_000534.4	129	Ata/Tta	0	1	1	UPI00000405F5	0	getma.org/pdb.php?prot=PMS1_HUMAN&from=16&to=148&var=I129L	ENST00000441310		ENSG00000064933	9121		70	1.125		HGNC	p.I129L		PMS1		SNV			1				ENST00000409985	protein_coding	getma.org/?cm=var&var=hg19,2,190670447,A,T&fts=all		hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38,Gene3D:3.30.565.10,TIGRFAM_domain:TIGR00585,Superfamily_domains:SSF55874		I/L		T	low	618/3225		getma.org/?cm=msa&ty=f&p=PMS1_HUMAN&rb=16&re=148&var=I129L	deleterious(0.01)	Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN			YES	PMS1,missense_variant,p.Ile129Leu,ENST00000441310,NM_000534.4;PMS1,missense_variant,p.Ile129Leu,ENST00000409823,NM_001128143.1;PMS1,missense_variant,p.Ile129Leu,ENST00000447232,NM_001128144.1;PMS1,missense_variant,p.Ile68Leu,ENST00000424307,;PMS1,missense_variant,p.Ile129Leu,ENST00000409985,;PMS1,missense_variant,p.Ile129Leu,ENST00000374826,;PMS1,missense_variant,p.Ile129Leu,ENST00000424766,;PMS1,intron_variant,,ENST00000418224,;PMS1,intron_variant,,ENST00000432292,;PMS1,non_coding_transcript_exon_variant,,ENST00000421722,;PMS1,non_coding_transcript_exon_variant,,ENST00000424059,;PMS1,missense_variant,p.Ile129Leu,ENST00000450931,;PMS1,intron_variant,,ENST00000342075,;PMS1,intron_variant,,ENST00000447734,;							MODERATE	385/2799	I129L	PMS1_HUMAN			Transcript		possibly_damaging(0.512)	.	ENSP00000406490		CCDS2302.1			1	
C12orf54	0	LGGM	GRCh37	12	48888662	48888662	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	58	24	.	.	ENST00000314014.2:c.324C>T	p.Gly108=	p.G108=	ENST00000314014	NM_152319.3	108	ggC/ggT	0	1	1	UPI000007267F	0		ENST00000314014		ENSG00000177627	28553		82			HGNC	p.G52G	rs764608315	C12orf54		SNV							ENST00000549398	protein_coding					G		T		455/887	3.00E-05			H0YIT5_HUMAN			YES	C12orf54,synonymous_variant,p.=,ENST00000314014,NM_152319.3;C12orf54,synonymous_variant,p.=,ENST00000548364,;RP11-722P11.4,intron_variant,,ENST00000551847,;C12orf54,synonymous_variant,p.=,ENST00000549398,;C12orf54,3_prime_UTR_variant,,ENST00000380491,;C12orf54,non_coding_transcript_exon_variant,,ENST00000551266,;							LOW	324/384		CL054_HUMAN			Transcript			.	ENSP00000316898	1.65E-05	CCDS8764.1			1	
COASY	0	LGGM	GRCh37	17	40715103	40715103	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070487	H070487N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	58	27	.	.	ENST00000590958.1:c.550G>T	p.Asp184Tyr	p.D184Y	ENST00000590958		184	Gat/Tat	0	1		UPI000006F293	0	NA	ENST00000393818		ENSG00000068120	29932		85	0.695		HGNC	p.D155Y		COASY		SNV			1				ENST00000420359	protein_coding	getma.org/?cm=var&var=hg19,17,40715103,G,T&fts=all				D/Y		T	neutral	919/2458		getma.org/?cm=msa&ty=f&p=COASY_HUMAN&rb=1&re=194&var=D155Y	deleterious(0.01)	K7ES73_HUMAN,K7EQ60_HUMAN,K7EP09_HUMAN,K7EN91_HUMAN				COASY,missense_variant,p.Asp155Tyr,ENST00000393818,NM_025233.6;COASY,missense_variant,p.Asp155Tyr,ENST00000420359,NM_001042529.2,NM_001042532.3;COASY,missense_variant,p.Asp155Tyr,ENST00000421097,;COASY,missense_variant,p.Asp184Tyr,ENST00000590958,;COASY,missense_variant,p.Asp155Tyr,ENST00000586771,;COASY,missense_variant,p.Asp77Tyr,ENST00000587157,;COASY,5_prime_UTR_variant,,ENST00000449624,;COASY,5_prime_UTR_variant,,ENST00000591779,;MLX,upstream_gene_variant,,ENST00000246912,NM_170607.2;MLX,upstream_gene_variant,,ENST00000435881,NM_198204.1;MLX,upstream_gene_variant,,ENST00000346833,NM_198205.1;MLX,upstream_gene_variant,,ENST00000591024,;COASY,downstream_gene_variant,,ENST00000585811,;COASY,downstream_gene_variant,,ENST00000585909,;COASY,downstream_gene_variant,,ENST00000587858,;COASY,downstream_gene_variant,,ENST00000587214,;RP11-400F19.8,downstream_gene_variant,,ENST00000585572,;COASY,downstream_gene_variant,,ENST00000588757,;MLX,upstream_gene_variant,,ENST00000590050,;MLX,upstream_gene_variant,,ENST00000588320,;COASY,upstream_gene_variant,,ENST00000591753,;MLX,upstream_gene_variant,,ENST00000585403,;MLX,upstream_gene_variant,,ENST00000586393,;COASY,upstream_gene_variant,,ENST00000591583,;MLX,upstream_gene_variant,,ENST00000590084,;MLX,upstream_gene_variant,,ENST00000592717,;MLX,upstream_gene_variant,,ENST00000591195,;COASY,upstream_gene_variant,,ENST00000588353,;							MODERATE	463/1695	D155Y	COASY_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000377406		CCDS11429.1			1	
ZNF573	0	LGGM	GRCh37	19	38229965	38229965	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	50	28	.	.	ENST00000590414.2:c.1426G>C	p.Gly476Arg	p.G476R	ENST00000590414		476	Ggg/Cgg	0	1		UPI0000F534BA	0	getma.org/pdb.php?prot=ZN573_HUMAN&from=436&to=461&var=G456R	ENST00000536220		ENSG00000189144	26420		78	2.685		HGNC	p.G418R		ZNF573		SNV							ENST00000339503	protein_coding	getma.org/?cm=var&var=hg19,19,38229965,C,G&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF159,hmmpanther:PTHR24377,PROSITE_profiles:PS50157		G/R		G	medium	1686/2448		getma.org/?cm=msa&ty=f&p=ZN573_HUMAN&rb=416&re=481&var=G456R	deleterious(0.02)					ZNF573,missense_variant,p.Gly418Arg,ENST00000339503,NM_152360.3;ZNF573,missense_variant,p.Gly388Arg,ENST00000536220,NM_001172689.1,NM_001172691.1,NM_001172690.1;ZNF573,missense_variant,p.Gly389Arg,ENST00000392138,;ZNF573,missense_variant,p.Gly476Arg,ENST00000590414,;ZNF573,missense_variant,p.Gly388Arg,ENST00000357309,NM_001172692.1;ZNF573,downstream_gene_variant,,ENST00000378445,;ZNF573,downstream_gene_variant,,ENST00000585724,;ZNF573,intron_variant,,ENST00000590674,;ZNF573,3_prime_UTR_variant,,ENST00000589632,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,downstream_gene_variant,,ENST00000489148,;ZNF573,downstream_gene_variant,,ENST00000591516,;							MODERATE	1162/1734	G456R	ZN573_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000440464		CCDS54260.1			1	
MICAL2	0	LGGM	GRCh37	11	12229590	12229590	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	26	33	.	.	ENST00000256194.4:c.493A>T	p.Ile165Phe	p.I165F	ENST00000256194	NM_014632.2	165	Atc/Ttc	0	1	1	UPI000000DA92	0	getma.org/pdb.php?prot=MICA2_HUMAN&from=144&to=343&var=I165F	ENST00000256194		ENSG00000133816	24693		59	2.28		HGNC	p.I165F		MICAL2		SNV							ENST00000342902	protein_coding	getma.org/?cm=var&var=hg19,11,12229590,A,T&fts=all		Gene3D:3.50.50.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239,Superfamily_domains:SSF51905		I/F		T	medium	781/3906		getma.org/?cm=msa&ty=f&p=MICA2_HUMAN&rb=144&re=343&var=I165F	deleterious(0)	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN			YES	MICAL2,missense_variant,p.Ile165Phe,ENST00000256194,NM_014632.2,NM_001282663.1;MICAL2,missense_variant,p.Ile165Phe,ENST00000537344,NM_001282665.1;MICAL2,missense_variant,p.Ile165Phe,ENST00000342902,NM_001282664.1;MICAL2,missense_variant,p.Ile165Phe,ENST00000527546,NM_001282665.1;MICAL2,missense_variant,p.Ile165Phe,ENST00000379612,NM_001282666.1;MICAL2,downstream_gene_variant,,ENST00000533389,;MICAL2,downstream_gene_variant,,ENST00000532179,;MICAL2,downstream_gene_variant,,ENST00000524685,;MICAL2,downstream_gene_variant,,ENST00000525119,;MICAL2,non_coding_transcript_exon_variant,,ENST00000527195,;MICAL2,non_coding_transcript_exon_variant,,ENST00000530691,;MICAL2,non_coding_transcript_exon_variant,,ENST00000528931,;MICAL2,non_coding_transcript_exon_variant,,ENST00000531732,;							MODERATE	493/3375	I165F	MICA2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000256194		CCDS7809.1			1	
IARS2	0	LGGM	GRCh37	1	220307832	220307832	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	22	33	.	.	ENST00000302637.5:c.1926A>T	p.Ala642=	p.A642=	ENST00000302637	NM_018060.3	642	gcA/gcT	0	1		UPI00001D69E8	0		ENST00000366922		ENSG00000067704	29685		55			HGNC	p.A642A		IARS2		SNV							ENST00000302637	protein_coding			Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00392,Pfam_domain:PF00133,Gene3D:3.40.50.620,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF9,HAMAP:MF_02002		A		T		2041/3557				F6SBX2_HUMAN				IARS2,synonymous_variant,p.=,ENST00000366922,;IARS2,synonymous_variant,p.=,ENST00000302637,NM_018060.3;snoU13,upstream_gene_variant,,ENST00000459443,;IARS2,non_coding_transcript_exon_variant,,ENST00000490891,;IARS2,upstream_gene_variant,,ENST00000488777,;							LOW	1710/2823					Transcript			.	ENSP00000355889					1	
LACTB2	0	LGGM	GRCh37	8	71556312	71556312	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H070487	H070487N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	49	37	.	.	ENST00000276590.4:c.580A>G	p.Ile194Val	p.I194V	ENST00000276590	NM_016027.2	194	Att/Gtt	0	1	1	UPI00000382DA	0	getma.org/pdb.php?prot=LACB2_HUMAN&from=26&to=199&var=I194V	ENST00000276590		ENSG00000147592	18512		86	-0.015		HGNC	p.I194V		LACTB2		SNV							ENST00000276590	protein_coding	getma.org/?cm=var&var=hg19,8,71556312,T,C&fts=all		hmmpanther:PTHR23131:SF0,hmmpanther:PTHR23131,Gene3D:3.60.15.10,Pfam_domain:PF00753,SMART_domains:SM00849,Superfamily_domains:SSF56281		I/V		C	neutral	617/1508		getma.org/?cm=msa&ty=f&p=LACB2_HUMAN&rb=26&re=199&var=I194V	tolerated(0.93)				YES	LACTB2,missense_variant,p.Ile194Val,ENST00000276590,NM_016027.2;LACTB2,missense_variant,p.Ile194Val,ENST00000522447,;RP11-382J12.1,intron_variant,,ENST00000499227,;LACTB2,non_coding_transcript_exon_variant,,ENST00000517601,;RP11-382J12.1,intron_variant,,ENST00000518553,;RP11-382J12.1,intron_variant,,ENST00000519167,;RP11-382J12.1,intron_variant,,ENST00000518152,;LACTB2,non_coding_transcript_exon_variant,,ENST00000522558,;							MODERATE	580/867	I194V	LACB2_HUMAN			Transcript		benign(0.002)	.	ENSP00000276590		CCDS6208.1			1	
OR5T1	0	LGGM	GRCh37	11	56043670	56043670	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	49	38	.	.	ENST00000313033.2:c.556A>G	p.Ile186Val	p.I186V	ENST00000313033	NM_001004745.1	186	Att/Gtt	0	1	1	UPI000004B22E	0	NA	ENST00000313033		ENSG00000181698	14821		87	1.55		HGNC	p.I186V		OR5T1		SNV							ENST00000313033	protein_coding	getma.org/?cm=var&var=hg19,11,56043670,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF33,Superfamily_domains:SSF81321		I/V		G	low	642/1118		getma.org/?cm=msa&ty=f&p=OR5T1_HUMAN&rb=151&re=295&var=I186V	tolerated(0.08)				YES	OR5T1,missense_variant,p.Ile186Val,ENST00000313033,NM_001004745.1;							MODERATE	556/981	I186V	OR5T1_HUMAN			Transcript		benign(0.433)	.	ENSP00000323612		CCDS31525.1			1	
SREK1	0	LGGM	GRCh37	5	65460647	65460647	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	62	43	.	.	ENST00000334121.6:c.923C>T	p.Ser308Phe	p.S308F	ENST00000334121	NM_001270492.1	308	tCt/tTt	0	1		UPI000007375A	0	NA	ENST00000380918		ENSG00000153914	17882		105	1.87		HGNC	p.S308F		SREK1		SNV							ENST00000334121	protein_coding	getma.org/?cm=var&var=hg19,5,65460647,C,T&fts=all		hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF7,Low_complexity_(Seg):seg		S/F		T	low	1235/2433		getma.org/?cm=msa&ty=f&p=SREK1_HUMAN&rb=185&re=395&var=S192F	deleterious(0)	Q69YM5_HUMAN,E5RJ76_HUMAN				SREK1,missense_variant,p.Ser308Phe,ENST00000334121,NM_001270492.1,NM_001077199.2;SREK1,missense_variant,p.Ser192Phe,ENST00000380918,NM_139168.3;SREK1,downstream_gene_variant,,ENST00000521691,;SREK1,non_coding_transcript_exon_variant,,ENST00000284041,;SREK1,3_prime_UTR_variant,,ENST00000520953,;SREK1,3_prime_UTR_variant,,ENST00000522912,;SREK1,3_prime_UTR_variant,,ENST00000523655,;SREK1,non_coding_transcript_exon_variant,,ENST00000519259,;SREK1,non_coding_transcript_exon_variant,,ENST00000524111,;SREK1,non_coding_transcript_exon_variant,,ENST00000520580,;SREK1,downstream_gene_variant,,ENST00000518110,;							MODERATE	575/1527	S192F	SREK1_HUMAN			Transcript		unknown(0)	.	ENSP00000370305		CCDS3991.1			1	
TTN	0	LGGM	GRCh37	2	179416560	179416560	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	80	52	.	.	ENST00000589042.1:c.91067T>G	p.Val30356Gly	p.V30356G	ENST00000589042	NM_001267550.1	30356	gTt/gGt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=28685&to=28770&var=V28715G	ENST00000591111		ENSG00000155657	12403		132	3.36		HGNC	p.V21416G		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179416560,A,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		V/G		C	medium	86369/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=28685&re=28770&var=V28715G		C9JQJ2_HUMAN				TTN,missense_variant,p.Val30356Gly,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val28715Gly,ENST00000591111,;TTN,missense_variant,p.Val27788Gly,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val21483Gly,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Val21416Gly,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val21291Gly,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,;							MODERATE	86144/103053	V28715G	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GRIK4	0	LGGM	GRCh37	11	120690548	120690548	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070487	H070487N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	99	65	.	.	ENST00000527524.2:c.430A>G	p.Thr144Ala	p.T144A	ENST00000527524	NM_001282470.1	144	Act/Gct	0	1		UPI000013DB8D	0	getma.org/pdb.php?prot=GRIK4_HUMAN&from=41&to=382&var=T144A	ENST00000438375		ENSG00000149403	4582		164	1.78		HGNC	p.T144A		GRIK4		SNV							ENST00000527524	protein_coding	getma.org/?cm=var&var=hg19,11,120690548,A,G&fts=all		Superfamily_domains:SSF53822,Pfam_domain:PF01094,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966		T/A		G	low	772/4214		getma.org/?cm=msa&ty=f&p=GRIK4_HUMAN&rb=41&re=382&var=T144A	tolerated(0.7)					GRIK4,missense_variant,p.Thr144Ala,ENST00000527524,NM_001282470.1;GRIK4,missense_variant,p.Thr144Ala,ENST00000438375,NM_014619.2;GRIK4,downstream_gene_variant,,ENST00000526536,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;							MODERATE	430/2871	T144A	GRIK4_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000404063		CCDS8433.1			1	
CEP95	0	LGGM	GRCh37	17	62504788	62504788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070487	H070487N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070487N.bam, H070487T.bam	Illumina HiSeq	73	86	.	.	ENST00000556440.2:c.98C>A	p.Ala33Asp	p.A33D	ENST00000556440	NM_138363.1	33	gCt/gAt	0	1	1	UPI000006F4B3	0	NA	ENST00000556440		ENSG00000258890	25141		159	2.28		HGNC	p.A33D		CEP95		SNV							ENST00000581056	protein_coding	getma.org/?cm=var&var=hg19,17,62504788,C,A&fts=all		Gene3D:1.10.418.10,hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545		A/D		A	medium	608/3139		getma.org/?cm=msa&ty=f&p=CEP95_HUMAN&rb=1&re=200&var=A33D	deleterious(0)	K7ENV0_HUMAN,B4DMD2_HUMAN			YES	CEP95,missense_variant,p.Ala33Asp,ENST00000556440,NM_138363.1;CEP95,missense_variant,p.Ala33Asp,ENST00000581056,;CEP95,5_prime_UTR_variant,,ENST00000553412,;CEP95,intron_variant,,ENST00000580188,;DDX5,upstream_gene_variant,,ENST00000225792,NM_004396.3;DDX5,upstream_gene_variant,,ENST00000450599,;DDX5,upstream_gene_variant,,ENST00000578804,;DDX5,upstream_gene_variant,,ENST00000585111,;DDX5,upstream_gene_variant,,ENST00000577922,;DDX5,upstream_gene_variant,,ENST00000577787,;DDX5,upstream_gene_variant,,ENST00000584279,;DDX5,upstream_gene_variant,,ENST00000578190,;DDX5,upstream_gene_variant,,ENST00000581697,;DDX5,upstream_gene_variant,,ENST00000581806,;DDX5,upstream_gene_variant,,ENST00000585060,;DDX5,upstream_gene_variant,,ENST00000583212,;DDX5,upstream_gene_variant,,ENST00000579091,;CEP95,upstream_gene_variant,,ENST00000582724,;DDX5,upstream_gene_variant,,ENST00000583239,;DDX5,upstream_gene_variant,,ENST00000583699,;DDX5,upstream_gene_variant,,ENST00000584500,;CEP95,missense_variant,p.Ala33Asp,ENST00000553956,;CEP95,missense_variant,p.Ala33Asp,ENST00000579860,;DDX5,upstream_gene_variant,,ENST00000581230,;DDX5,upstream_gene_variant,,ENST00000540698,;DDX5,upstream_gene_variant,,ENST00000581693,;DDX5,upstream_gene_variant,,ENST00000584549,;DDX5,upstream_gene_variant,,ENST00000583894,;DDX5,upstream_gene_variant,,ENST00000585223,;DDX5,upstream_gene_variant,,ENST00000582326,;DDX5,upstream_gene_variant,,ENST00000578400,;DDX5,upstream_gene_variant,,ENST00000583562,;							MODERATE	98/2466	A33D	CEP95_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000450461		CCDS45763.1			1	
PEPD	0	LGGM	GRCh37	19	34003522	34003522	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	7	2	.	.	ENST00000244137.7:c.178G>A	p.Asp60Asn	p.D60N	ENST00000244137	NM_000285.3	60	Gac/Aac	0	1	1	UPI000006F8BF	0	getma.org/pdb.php?prot=PEPD_HUMAN&from=18&to=155&var=D60N	ENST00000244137		ENSG00000124299	8840		9	3.775		HGNC	p.D60N	rs781520198	PEPD	0.000121	SNV			1				ENST00000397032	protein_coding	getma.org/?cm=var&var=hg19,19,34003522,C,T&fts=all		Gene3D:3.40.350.10,Pfam_domain:PF05195,hmmpanther:PTHR10804,hmmpanther:PTHR10804:SF17,SMART_domains:SM01011,Superfamily_domains:SSF53092		D/N		T	high	212/1910		getma.org/?cm=msa&ty=f&p=PEPD_HUMAN&rb=18&re=155&var=D60N	deleterious(0)	K7EQ51_HUMAN			YES	PEPD,missense_variant,p.Asp60Asn,ENST00000244137,NM_000285.3;PEPD,missense_variant,p.Asp60Asn,ENST00000397032,NM_001166056.1;PEPD,missense_variant,p.Asp60Asn,ENST00000436370,NM_001166057.1;PEPD,upstream_gene_variant,,ENST00000593163,;PEPD,upstream_gene_variant,,ENST00000590408,;	0.000117						MODERATE	178/1482	D60N	PEPD_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000244137	2.48E-05	CCDS42544.1			1	
RGPD2	0	LGGM	GRCh37	2	88125190	88125190	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	12	2	.	.	ENST00000398146.3:c.59C>A	p.Pro20Gln	p.P20Q	ENST00000398146		20	cCg/cAg	0	1	1	UPI00006C0449	0	NA	ENST00000398146		ENSG00000185304	32415		14	1.355		HGNC	p.P20Q		RGPD2		SNV							ENST00000398146	protein_coding	getma.org/?cm=var&var=hg19,2,88125190,G,T&fts=all		hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86		P/Q		T	low	282/6931		getma.org/?cm=msa&ty=f&p=RGPD2_HUMAN&rb=1&re=200&var=P20Q	deleterious(0.01)	Q9NYL8_HUMAN,I1Z9D1_HUMAN,B4DTT2_HUMAN			YES	RGPD2,missense_variant,p.Pro20Gln,ENST00000398146,;RGPD2,5_prime_UTR_variant,,ENST00000327544,NM_001078170.2;RGPD2,intron_variant,,ENST00000420840,;MTATP8P2,downstream_gene_variant,,ENST00000435212,;							MODERATE	59/5271	P20Q	RGPD2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000381214		CCDS42710.2			1	
PHKA1	0	LGGM	GRCh37	X	71802335	71802335	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	19	2	.	.	ENST00000373542.4:c.3411G>C	p.Leu1137=	p.L1137=	ENST00000373542	NM_002637.3	1137	ctG/ctC	0	1	1	UPI000013D340	0		ENST00000373542		ENSG00000067177	8925		21			HGNC	p.L1137L		PHKA1		SNV			1				ENST00000373542	protein_coding			hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF4		L		G		3571/6020							YES	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,;							LOW	3411/3672		KPB1_HUMAN			Transcript			.	ENSP00000362643		CCDS14421.1			1	
MAT2A	0	LGGM	GRCh37	2	85766416	85766417	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H070599	H070599N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	4	2	.	.	ENST00000306434.3:c.6_7insT	p.Gly3TrpfsTer30	p.G3Wfs*30	ENST00000306434	NM_005911.5	2	-/T	0	1	1	UPI0000000C32	0		ENST00000306434		ENSG00000168906	6904		6			HGNC	p.N2fs		MAT2A		insertion							ENST00000306434	protein_coding			hmmpanther:PTHR11964		-/X		T		129-130/2819				B4DN45_HUMAN,B4DEX8_HUMAN			YES	MAT2A,frameshift_variant,p.Gly3TrpfsTer30,ENST00000306434,NM_005911.5;MAT2A,upstream_gene_variant,,ENST00000409017,;MAT2A,upstream_gene_variant,,ENST00000490878,;MAT2A,non_coding_transcript_exon_variant,,ENST00000469221,;MAT2A,non_coding_transcript_exon_variant,,ENST00000465151,;MAT2A,upstream_gene_variant,,ENST00000481412,;							HIGH	6-7/1188		METK2_HUMAN			Transcript			.	ENSP00000303147		CCDS1977.1			1	
MALRD1	0	LGGM	GRCh37	10	19820154	19820154	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	11	2	.	.	ENST00000377266.3:c.3489A>T	p.Ser1163=	p.S1163=	ENST00000377266		1163	tcA/tcT	0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		13			HGNC	p.S1150S		MALRD1		SNV							ENST00000454679	protein_coding			Pfam_domain:PF00629,Prints_domain:PR00020,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,SMART_domains:SM00137,Superfamily_domains:SSF49899		S		T		3450/4661								MALRD1,synonymous_variant,p.=,ENST00000454679,;MALRD1,synonymous_variant,p.=,ENST00000377266,;MALRD1,synonymous_variant,p.=,ENST00000377265,;MALRD1,5_prime_UTR_variant,,ENST00000455457,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;							LOW	3450/4422		CJ112_HUMAN			Transcript			.	ENSP00000412763					1	
OSM	0	LGGM	GRCh37	22	30660240	30660240	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	14	2	.	.	ENST00000215781.2:c.391G>T	p.Glu131Ter	p.E131*	ENST00000215781	NM_020530.4	131	Gag/Tag	0	1	1	UPI0000130D33	0	NA	ENST00000215781		ENSG00000099985	8506		16	0		HGNC	p.E131X		OSM		SNV							ENST00000215781	protein_coding	getma.org/?cm=var&var=hg19,22,30660240,C,A&fts=all		hmmpanther:PTHR14261,Pfam_domain:PF01291,Gene3D:1.20.1250.10,SMART_domains:SM00080,Superfamily_domains:SSF47266		E/*		A	NA	432/1854		NA		B5MCX1_HUMAN,B5BUQ7_HUMAN			YES	OSM,stop_gained,p.Glu131Ter,ENST00000215781,NM_020530.4;OSM,stop_gained,p.Glu110Ter,ENST00000403389,;OSM,3_prime_UTR_variant,,ENST00000403463,;							HIGH	391/759	E131*	ONCM_HUMAN			Transcript			.	ENSP00000215781		CCDS13873.1			1	
HYDIN	0	LGGM	GRCh37	16	70908288	70908288	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	34	3	.	.	ENST00000393567.2:c.10868C>T	p.Ala3623Val	p.A3623V	ENST00000393567	NM_001270974.1	3623	gCc/gTc	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368	8.90E-05	37	0.92		HGNC	p.A3623V	rs775277062	HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70908288,G,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		A/V		A	low	11019/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=A3623V		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Ala3623Val,ENST00000393567,NM_001270974.1;AC027281.1,upstream_gene_variant,,ENST00000411384,;							MODERATE	10868/15366	A3623V	HYDIN_HUMAN			Transcript		benign(0.001)	.	ENSP00000377197	8.28E-06	CCDS59269.1			1	
ZNF418	0	LGGM	GRCh37	19	58437901	58437901	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	46	3	.	.	ENST00000396147.1:c.1648A>T	p.Ser550Cys	p.S550C	ENST00000396147	NM_133460.1	550	Agc/Tgc	0	1	1	UPI000013B4C8	0	NA	ENST00000396147		ENSG00000196724	20647		49	1.8		HGNC	p.S465C		ZNF418		SNV							ENST00000599852	protein_coding	getma.org/?cm=var&var=hg19,19,58437901,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF192,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/C		A	low	1940/3694		getma.org/?cm=msa&ty=f&p=ZN418_HUMAN&rb=520&re=581&var=S550C	tolerated(0.08)	M0QX82_HUMAN			YES	ZNF418,missense_variant,p.Ser550Cys,ENST00000396147,NM_133460.1;ZNF418,missense_variant,p.Ser571Cys,ENST00000425570,;ZNF418,missense_variant,p.Ser550Cys,ENST00000595830,;ZNF418,missense_variant,p.Ser465Cys,ENST00000599852,;ZNF418,intron_variant,,ENST00000600989,;ZNF418,downstream_gene_variant,,ENST00000595569,;ZNF418,downstream_gene_variant,,ENST00000593296,;ZNF418,downstream_gene_variant,,ENST00000601593,;ZNF418,intron_variant,,ENST00000598213,;ZNF418,upstream_gene_variant,,ENST00000599086,;							MODERATE	1648/2031	S550C	ZN418_HUMAN			Transcript		benign(0.16)	.	ENSP00000379451		CCDS42642.1			1	
IL17RD	0	LGGM	GRCh37	3	57137151	57137151	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	50	3	.	.	ENST00000296318.7:c.836C>G	p.Thr279Arg	p.T279R	ENST00000296318	NM_017563.3	279	aCa/aGa	0	1	1	UPI0000047CC3	0	NA	ENST00000296318		ENSG00000144730	17616		53	1.04		HGNC	p.T135R		IL17RD		SNV			1				ENST00000320057	protein_coding	getma.org/?cm=var&var=hg19,3,57137151,G,C&fts=all		hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8		T/R		C	low	925/8720		getma.org/?cm=msa&ty=f&p=I17RD_HUMAN&rb=201&re=355&var=T279R	deleterious(0)	C9J6R0_HUMAN			YES	IL17RD,missense_variant,p.Thr279Arg,ENST00000296318,NM_017563.3;IL17RD,missense_variant,p.Thr135Arg,ENST00000320057,;IL17RD,missense_variant,p.Thr255Arg,ENST00000427856,;IL17RD,missense_variant,p.Thr135Arg,ENST00000463523,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;							MODERATE	836/2220	T279R	I17RD_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000296318		CCDS2880.2			1	
ANKRD11	0	LGGM	GRCh37	16	89347390	89347390	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	18	3	.	.	ENST00000301030.4:c.5560G>T	p.Asp1854Tyr	p.D1854Y	ENST00000301030	NM_001256183.1	1854	Gac/Tac	0	1	1	UPI00004569E1	0	NA	ENST00000301030		ENSG00000167522	21316		21	0.895		HGNC	p.D1854Y		ANKRD11		SNV			1				ENST00000301030	protein_coding	getma.org/?cm=var&var=hg19,16,89347390,C,A&fts=all		hmmpanther:PTHR24145		D/Y		A	low	6021/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=1808&re=2007&var=D1854Y					YES	ANKRD11,missense_variant,p.Asp1854Tyr,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Asp1854Tyr,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							MODERATE	5560/7992	D1854Y	ANR11_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000301030		CCDS32513.1			1	
PMPCB	0	LGGM	GRCh37	7	102950799	102950799	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	24	3	.	.	ENST00000249269.4:c.1031G>A	p.Gly344Asp	p.G344D	ENST00000249269	NM_004279.2	344	gGc/gAc	0	1	1	UPI00000712F7	0	getma.org/pdb.php?prot=MPPB_HUMAN&from=220&to=404&var=G344D	ENST00000249269		ENSG00000105819	9119		27	0.46		HGNC	p.G344D		PMPCB		SNV							ENST00000249269	protein_coding	getma.org/?cm=var&var=hg19,7,102950799,G,A&fts=all		Gene3D:3.30.830.10,Pfam_domain:PF05193,hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF103,Superfamily_domains:SSF63411		G/D		A	neutral	1069/2472		getma.org/?cm=msa&ty=f&p=MPPB_HUMAN&rb=220&re=404&var=G344D	tolerated(0.27)				YES	PMPCB,missense_variant,p.Gly344Asp,ENST00000249269,NM_004279.2;PMPCB,missense_variant,p.Gly239Asp,ENST00000420236,;PMPCB,missense_variant,p.Gly344Asp,ENST00000428154,;DNAJC2,downstream_gene_variant,,ENST00000379263,NM_014377.1;DNAJC2,downstream_gene_variant,,ENST00000249270,NM_001129887.1;PMPCB,3_prime_UTR_variant,,ENST00000444457,;PMPCB,3_prime_UTR_variant,,ENST00000453466,;PMPCB,3_prime_UTR_variant,,ENST00000443722,;PMPCB,3_prime_UTR_variant,,ENST00000456433,;DNAJC2,downstream_gene_variant,,ENST00000492497,;DNAJC2,downstream_gene_variant,,ENST00000475065,;DNAJC2,downstream_gene_variant,,ENST00000464253,;PMPCB,upstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;							MODERATE	1031/1470	G344D	MPPB_HUMAN			Transcript		benign(0.002)	.	ENSP00000249269		CCDS5730.1			1	
LGALS7B	0	LGGM	GRCh37	19	39281466	39281466	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	8	3	.	.	ENST00000314980.4:c.233G>T	p.Gly78Val	p.G78V	ENST00000314980	NM_001042507.3	78	gGc/gTc	0	1	1	UPI000000D9FF	0		ENST00000314980		ENSG00000178934	34447		11			HGNC	p.G78V		LGALS7B		SNV							ENST00000314980	protein_coding			Superfamily_domains:SSF49899,SMART_domains:SM00276,SMART_domains:SM00908,Pfam_domain:PF00337,Gene3D:2.60.120.200,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF82,PROSITE_profiles:PS51304		G/V		T		249/483			deleterious(0)				YES	LGALS7B,missense_variant,p.Gly78Val,ENST00000314980,NM_001042507.3;LGALS7B,non_coding_transcript_exon_variant,,ENST00000600304,;							MODERATE	233/411		LEG7_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000313571		CCDS42565.1			1	
LRRTM1	0	LGGM	GRCh37	2	80530112	80530112	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	16	3	.	.	ENST00000295057.3:c.833C>T	p.Thr278Ile	p.T278I	ENST00000295057	NM_178839.4	278	aCc/aTc	0	1	1	UPI000013E1FE	0	getma.org/pdb.php?prot=LRRT1_HUMAN&from=256&to=315&var=T278I	ENST00000295057		ENSG00000162951	19408		19	1.255		HGNC	p.T278I		LRRTM1		SNV							ENST00000295057	protein_coding	getma.org/?cm=var&var=hg19,2,80530112,G,A&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		T/I		A	low	1490/2599		getma.org/?cm=msa&ty=f&p=LRRT1_HUMAN&rb=256&re=315&var=T278I	tolerated(0.09)	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN			YES	LRRTM1,missense_variant,p.Thr278Ile,ENST00000295057,NM_178839.4;LRRTM1,missense_variant,p.Thr278Ile,ENST00000409148,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.1;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000540488,;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Thr278Ile,ENST00000433224,;LRRTM1,missense_variant,p.Thr278Ile,ENST00000417012,;							MODERATE	833/1569	T278I	LRRT1_HUMAN			Transcript		benign(0.172)	.	ENSP00000295057		CCDS1966.1			1	
ZNF229	0	LGGM	GRCh37	19	44934077	44934077	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	19	4	.	.	ENST00000588931.1:c.879T>C	p.Cys293=	p.C293=	ENST00000588931	NM_014518.2	293	tgT/tgC	0	1	1	UPI00001D8174	0		ENST00000588931		ENSG00000167383	13022		23			HGNC	p.C293C		ZNF229		SNV							ENST00000588931	protein_coding			hmmpanther:PTHR24377,Superfamily_domains:SSF57667		C		G		1313/4510							YES	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,;							LOW	879/2478		ZN229_HUMAN			Transcript			.	ENSP00000466519		CCDS42574.1			1	
SDF4	0	LGGM	GRCh37	1	1158730	1158730	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	38	4	.	.	ENST00000360001.6:c.471G>T	p.Val157=	p.V157=	ENST00000360001		157	gtG/gtT	0	1	1	UPI0000127156	0		ENST00000360001		ENSG00000078808	24188		42			HGNC	p.V157V		SDF4		SNV							ENST00000465727	protein_coding			Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF39,SMART_domains:SM00054,Superfamily_domains:SSF47473		V		A		734/1956							YES	SDF4,synonymous_variant,p.=,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,synonymous_variant,p.=,ENST00000360001,;SDF4,synonymous_variant,p.=,ENST00000545427,;SDF4,synonymous_variant,p.=,ENST00000403997,;SDF4,downstream_gene_variant,,ENST00000459994,;SDF4,synonymous_variant,p.=,ENST00000465727,;SDF4,upstream_gene_variant,,ENST00000494748,;SDF4,upstream_gene_variant,,ENST00000478938,;							LOW	471/1089		CAB45_HUMAN			Transcript			.	ENSP00000353094		CCDS30553.1			1	
PPM1D	0	LGGM	GRCh37	17	58740586	58740586	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	70	4	.	.	ENST00000305921.3:c.1491C>G	p.Gly497=	p.G497=	ENST00000305921	NM_003620.3	497	ggC/ggG	0	1	1	UPI0000130FE8	0		ENST00000305921		ENSG00000170836	9277		74			HGNC	p.G497G		PPM1D		SNV							ENST00000305921	protein_coding					G		G		1723/2986							YES	PPM1D,synonymous_variant,p.=,ENST00000305921,NM_003620.3;RNU6-623P,upstream_gene_variant,,ENST00000363143,;PPM1D,3_prime_UTR_variant,,ENST00000392995,;							LOW	1491/1818		PPM1D_HUMAN			Transcript			.	ENSP00000306682		CCDS11625.1			1	
KIAA0368	0	LGGM	GRCh37	9	114182363	114182363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	90	4	.	.	ENST00000259335.4:c.2027C>T	p.Ala676Val	p.A676V	ENST00000259335	NM_001080398.1	676	gCc/gTc	0	1		UPI0002B83222	0	NA	ENST00000338205		ENSG00000136813	29020		94	2.125		HGNC	p.A676V		KIAA0368		SNV							ENST00000259335	protein_coding	getma.org/?cm=var&var=hg19,9,114182363,G,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF13001,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Superfamily_domains:SSF48371		A/V		A	medium	1713/7078		getma.org/?cm=msa&ty=f&p=ECM29_HUMAN&rb=16&re=522&var=A504V	tolerated(0.08)					KIAA0368,missense_variant,p.Ala676Val,ENST00000259335,NM_001080398.1;KIAA0368,missense_variant,p.Ala498Val,ENST00000338205,;KIAA0368,missense_variant,p.Ala504Val,ENST00000602447,;							MODERATE	1493/5520	A504V	ECM29_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000339889					1	
B3GNT4	0	LGGM	GRCh37	12	122690955	122690955	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	42	4	.	.	ENST00000324189.4:c.157G>A	p.Ala53Thr	p.A53T	ENST00000324189	NM_030765.2	53	Gcc/Acc	0	1	1	UPI0000051E30	0	NA	ENST00000324189		ENSG00000176383	15683		46	0.755		HGNC	p.A28T	COSM1127526	B3GNT4		SNV						1	ENST00000546192	protein_coding	getma.org/?cm=var&var=hg19,12,122690955,G,A&fts=all		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF27		A/T		A	neutral	513/1642		getma.org/?cm=msa&ty=f&p=B3GN4_HUMAN&rb=1&re=131&var=A53T	tolerated(0.34)				YES	B3GNT4,missense_variant,p.Ala28Thr,ENST00000535274,;B3GNT4,missense_variant,p.Ala28Thr,ENST00000546192,;B3GNT4,missense_variant,p.Ala53Thr,ENST00000324189,NM_030765.2;DIABLO,downstream_gene_variant,,ENST00000464942,NM_001278304.1;DIABLO,downstream_gene_variant,,ENST00000443649,NM_019887.5;DIABLO,downstream_gene_variant,,ENST00000413918,;LRRC43,downstream_gene_variant,,ENST00000339777,NM_152759.4;LRRC43,downstream_gene_variant,,ENST00000425921,NM_001098519.1;DIABLO,downstream_gene_variant,,ENST00000353548,NM_001278342.1;DIABLO,downstream_gene_variant,,ENST00000267169,NM_138930.3;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000541273,;B3GNT4,intron_variant,,ENST00000545141,;B3GNT4,intron_variant,,ENST00000537991,;B3GNT4,intron_variant,,ENST00000538257,;LRRC43,downstream_gene_variant,,ENST00000537733,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;DIABLO,downstream_gene_variant,,ENST00000342392,;					1		MODERATE	157/1137	A53T	B3GN4_HUMAN			Transcript		benign(0.004)	.	ENSP00000319636		CCDS9227.1			1	
CD101	0	LGGM	GRCh37	1	117560918	117560918	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	43	4	.	.	ENST00000256652.4:c.1753A>T	p.Ser585Cys	p.S585C	ENST00000256652	NM_004258.5	585	Agc/Tgc	0	1	1	UPI000013CF1F	0	NA	ENST00000256652		ENSG00000134256	5949		47	0.895		HGNC	p.S585C		CD101		SNV							ENST00000369470	protein_coding	getma.org/?cm=var&var=hg19,1,117560918,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF20,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/C		T	low	1811/3547		getma.org/?cm=msa&ty=f&p=IGSF2_HUMAN&rb=542&re=669&var=S585C	deleterious(0.03)				YES	CD101,missense_variant,p.Ser585Cys,ENST00000256652,NM_004258.5,NM_001256106.2,NM_001256109.2,NM_001256111.2;CD101,missense_variant,p.Ser585Cys,ENST00000369470,;							MODERATE	1753/3066	S585C	IGSF2_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000256652		CCDS891.1			1	
PNPLA7	0	LGGM	GRCh37	9	140414497	140414497	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	71	5	.	.	ENST00000406427.1:c.958-2A>G		p.X320_splice	ENST00000406427	NM_001098537.1			0	1		UPI000022D7A4	0		ENST00000277531		ENSG00000130653	24768		76			HGNC	-		PNPLA7		SNV							ENST00000371446	protein_coding							C		-/4581								PNPLA7,splice_acceptor_variant,,ENST00000406427,NM_001098537.1;PNPLA7,splice_acceptor_variant,,ENST00000277531,NM_152286.3;PNPLA7,splice_acceptor_variant,,ENST00000434090,;PNPLA7,upstream_gene_variant,,ENST00000371457,;PNPLA7,downstream_gene_variant,,ENST00000491019,;							HIGH	883/3954		PLPL7_HUMAN			Transcript			.	ENSP00000277531		CCDS7045.1			1	
ACTR5	0	LGGM	GRCh37	20	37383611	37383611	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	17	5	.	.	ENST00000243903.4:c.787T>G	p.Trp263Gly	p.W263G	ENST00000243903	NM_024855.3	263	Tgg/Ggg	0	1	1	UPI000006F9EF	0	getma.org/pdb.php?prot=ARP5_HUMAN&from=30&to=570&var=W263G	ENST00000243903		ENSG00000101442	14671		22	2.055		HGNC	p.W263G		ACTR5		SNV							ENST00000243903	protein_coding	getma.org/?cm=var&var=hg19,20,37383611,T,G&fts=all		hmmpanther:PTHR11937:SF16,hmmpanther:PTHR11937,Gene3D:3.90.640.10,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067		W/G		G	medium	824/2236		getma.org/?cm=msa&ty=f&p=ARP5_HUMAN&rb=30&re=570&var=W263G	deleterious(0)				YES	ACTR5,missense_variant,p.Trp263Gly,ENST00000243903,NM_024855.3;							MODERATE	787/1824	W263G	ARP5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000243903		CCDS13308.1			1	
CCDC180	0	LGGM	GRCh37	9	100092459	100092459	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	49	5	.	.	ENST00000375202.2:c.1944C>T	p.Phe648=	p.F648=	ENST00000375202		648	ttC/ttT	0	1	1	UPI00016277C6	0		ENST00000375202		ENSG00000197816	29303		54			HGNC	p.F648F		CCDC180		SNV							ENST00000529487	protein_coding			hmmpanther:PTHR21444,hmmpanther:PTHR21444:SF14		F		T		3296/6851				B7ZMG3_HUMAN			YES	CCDC180,synonymous_variant,p.=,ENST00000375202,;CCDC180,synonymous_variant,p.=,ENST00000357054,;CCDC180,synonymous_variant,p.=,ENST00000529487,NM_020893.2;CCDC180,synonymous_variant,p.=,ENST00000411667,;CCDC180,3_prime_UTR_variant,,ENST00000395220,;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,non_coding_transcript_exon_variant,,ENST00000532526,;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,;CCDC180,upstream_gene_variant,,ENST00000528678,;CCDC180,upstream_gene_variant,,ENST00000530011,;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,;							LOW	1944/5106		CC180_HUMAN			Transcript			.	ENSP00000364348		CCDS35077.2			1	
POLG	0	LGGM	GRCh37	15	89861844	89861844	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	16	5	.	.	ENST00000268124.5:c.3410T>A	p.Val1137Asp	p.V1137D	ENST00000268124	NM_001126131.1	1137	gTt/gAt	0	1	1	UPI000000D9E8	0	getma.org/pdb.php?prot=DPOG1_HUMAN&from=730&to=1182&var=V1137D	ENST00000268124		ENSG00000140521	9179		21	2.725		HGNC	p.V1137D		POLG		SNV			1				ENST00000268124	protein_coding	getma.org/?cm=var&var=hg19,15,89861844,A,T&fts=all		Gene3D:3.30.70.370,Pfam_domain:PF00476,PIRSF_domain:PIRSF000797,hmmpanther:PTHR10267,hmmpanther:PTHR10267:SF0,SMART_domains:SM00482,Superfamily_domains:SSF56672		V/D		T	medium	3744/4502		getma.org/?cm=msa&ty=f&p=DPOG1_HUMAN&rb=730&re=1182&var=V1137D	deleterious(0)	E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN			YES	POLG,missense_variant,p.Val1137Asp,ENST00000268124,NM_001126131.1,NM_002693.2;POLG,missense_variant,p.Val1137Asp,ENST00000442287,;FANCI,downstream_gene_variant,,ENST00000310775,NM_001113378.1;FANCI,downstream_gene_variant,,ENST00000300027,NM_018193.2;FANCI,downstream_gene_variant,,ENST00000561894,;POLG,downstream_gene_variant,,ENST00000526314,;FANCI,downstream_gene_variant,,ENST00000566615,;FANCI,downstream_gene_variant,,ENST00000565522,;POLG,missense_variant,p.Val165Asp,ENST00000530292,;FANCI,downstream_gene_variant,,ENST00000566895,;FANCI,downstream_gene_variant,,ENST00000447611,;POLG,upstream_gene_variant,,ENST00000526671,;POLG,downstream_gene_variant,,ENST00000532584,;POLG,downstream_gene_variant,,ENST00000533857,;POLG,downstream_gene_variant,,ENST00000526573,;POLG,downstream_gene_variant,,ENST00000528881,;POLG,downstream_gene_variant,,ENST00000526398,;POLG,downstream_gene_variant,,ENST00000530715,;							MODERATE	3410/3720	V1137D	DPOG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000268124		CCDS10350.1			1	
TIAM1	0	LGGM	GRCh37	21	32503230	32503230	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	19	6	.	.	ENST00000286827.3:c.3920G>T	p.Gly1307Val	p.G1307V	ENST00000286827	NM_003253.2	1307	gGt/gTt	0	1	1	UPI000013DE6F	0	getma.org/pdb.php?prot=TIAM1_HUMAN&from=1261&to=1397&var=G1307V	ENST00000286827		ENSG00000156299	11805		25	1.1		HGNC	p.G1247V		TIAM1		SNV							ENST00000541036	protein_coding	getma.org/?cm=var&var=hg19,21,32503230,C,A&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826		G/V		A	low	4392/7200		getma.org/?cm=msa&ty=f&p=TIAM1_HUMAN&rb=1261&re=1397&var=G1307V	tolerated(0.49)	C9JMB5_HUMAN			YES	TIAM1,missense_variant,p.Gly1307Val,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Gly1247Val,ENST00000541036,;TIAM1,upstream_gene_variant,,ENST00000423206,;TIAM1,upstream_gene_variant,,ENST00000491927,;							MODERATE	3920/4776	G1307V	TIAM1_HUMAN			Transcript		benign(0.011)	.	ENSP00000286827		CCDS13609.1			1	
MTA1	0	LGGM	GRCh37	14	105916508	105916508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	28	6	.	.	ENST00000331320.7:c.355G>A	p.Ala119Thr	p.A119T	ENST00000331320	NM_004689.3	119	Gcc/Acc	0	1	1	UPI00003669FD	0	NA	ENST00000331320		ENSG00000182979	7410		34	2.535		HGNC	p.A119T	COSM552244	MTA1		SNV						1	ENST00000331320	protein_coding	getma.org/?cm=var&var=hg19,14,105916508,G,A&fts=all		Pfam_domain:PF01426,PROSITE_profiles:PS51038,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF5,SMART_domains:SM00439		A/T		A	medium	569/2876		getma.org/?cm=msa&ty=f&p=MTA1_HUMAN&rb=4&re=164&var=A119T	deleterious(0)	Q86TR6_HUMAN,F8VSM3_HUMAN,F8VPC5_HUMAN			YES	MTA1,missense_variant,p.Ala119Thr,ENST00000331320,NM_004689.3,NM_001203258.1;MTA1,missense_variant,p.Ala119Thr,ENST00000406191,;MTA1,missense_variant,p.Ala102Thr,ENST00000405646,;MTA1,missense_variant,p.Ala33Thr,ENST00000498644,;MTA1,missense_variant,p.Ala119Thr,ENST00000438610,;MTA1,3_prime_UTR_variant,,ENST00000424723,;MTA1,3_prime_UTR_variant,,ENST00000551236,;MTA1,non_coding_transcript_exon_variant,,ENST00000481012,;MTA1,non_coding_transcript_exon_variant,,ENST00000494026,;TEX22,downstream_gene_variant,,ENST00000548638,;					1		MODERATE	355/2148	A119T	MTA1_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000333633		CCDS32169.1			1	
SLC26A5	0	LGGM	GRCh37	7	103050884	103050884	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	17	7	.	.	ENST00000306312.3:c.683A>T	p.Tyr228Phe	p.Y228F	ENST00000306312	NM_198999.2	228	tAt/tTt	0	1	1	UPI0000132195	0	NA	ENST00000306312		ENSG00000170615	9359		24	1.48		HGNC	p.Y228F		SLC26A5		SNV			1				ENST00000306312	protein_coding	getma.org/?cm=var&var=hg19,7,103050884,T,A&fts=all		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix		Y/F		A	low	945/2689		getma.org/?cm=msa&ty=f&p=S26A5_HUMAN&rb=193&re=471&var=Y228F	deleterious(0.01)	Q496J1_HUMAN			YES	SLC26A5,missense_variant,p.Tyr228Phe,ENST00000306312,NM_198999.2;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000432958,NM_001167962.1;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000393730,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000339444,NM_206883.2;SLC26A5,missense_variant,p.Tyr191Phe,ENST00000393729,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000393727,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000393723,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000393735,NM_206884.2;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000356767,NM_206885.2;SLC26A5,5_prime_UTR_variant,,ENST00000354356,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000423416,;SLC26A5,missense_variant,p.Tyr191Phe,ENST00000456463,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000445809,;SLC26A5,missense_variant,p.Tyr228Phe,ENST00000454864,;SLC26A5,non_coding_transcript_exon_variant,,ENST00000487407,;							MODERATE	683/2235	Y228F	S26A5_HUMAN			Transcript		benign(0.174)	.	ENSP00000304783		CCDS5733.1			1	
LIMK1	0	LGGM	GRCh37	7	73535288	73535288	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	80	7	.	.	ENST00000336180.2:c.1690C>T	p.Arg564Ter	p.R564*	ENST00000336180	NM_002314.3	564	Cga/Tga	0	1	1	UPI000013D678	0	NA	ENST00000336180		ENSG00000106683	6613		87	0		HGNC	p.R530X		LIMK1		SNV			1				ENST00000538333	protein_coding	getma.org/?cm=var&var=hg19,7,73535288,C,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379,Superfamily_domains:SSF56112		R/*		T	NA	1741/3219		NA		Q75MU4_HUMAN			YES	LIMK1,stop_gained,p.Arg594Ter,ENST00000418310,;LIMK1,stop_gained,p.Arg564Ter,ENST00000336180,NM_002314.3;LIMK1,stop_gained,p.Arg530Ter,ENST00000538333,NM_001204426.1;LIMK1,3_prime_UTR_variant,,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000476792,;							HIGH	1690/1944	R564*	LIMK1_HUMAN			Transcript			.	ENSP00000336740		CCDS5563.1			1	
SPTBN5	0	LGGM	GRCh37	15	42168330	42168330	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	19	7	.	.	ENST00000320955.6:c.4104C>T	p.His1368=	p.H1368=	ENST00000320955	NM_016642.3	1368	caC/caT	0	1	1	UPI0000E59BE4	0		ENST00000320955		ENSG00000137877	15680		26			HGNC	p.H1368H	rs373120448	SPTBN5		SNV	A:0						ENST00000320955	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		H	A:0.0001	A		4332/11722	1.52E-05						YES	SPTBN5,synonymous_variant,p.=,ENST00000320955,NM_016642.3;	0.000116						LOW	4104/11025		SPTN5_HUMAN			Transcript			.	ENSP00000317790	1.65E-05	CCDS61599.1			1	
FREY1	0	LGGM	GRCh37	11	45928231	45928231	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	29	7	.	.	ENST00000449465.1:c.186C>T	p.Ile62=	p.I62=	ENST00000449465	NM_001080446.2	62	atC/atT	0	1	1	UPI000015FFBA	0		ENST00000449465		ENSG00000234776	37213		36			HGNC	p.I62I		C11orf94		SNV							ENST00000449465	protein_coding					I		A		223/369							YES	C11orf94,synonymous_variant,p.=,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,;							LOW	186/297		CK094_HUMAN			Transcript			.	ENSP00000401498		CCDS44577.1			1	
GRM2	0	LGGM	GRCh37	3	51749783	51749783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	20	8	.	.	ENST00000395052.3:c.1994G>A	p.Arg665Gln	p.R665Q	ENST00000395052	NM_000839.3	665	cGg/cAg	0	1	1	UPI000013E346	0	NA	ENST00000395052		ENSG00000164082	4594		28	1.525		HGNC	p.R665Q	rs768679400	GRM2		SNV							ENST00000395052	protein_coding	getma.org/?cm=var&var=hg19,3,51749783,G,A&fts=all		PROSITE_profiles:PS50259,hmmpanther:PTHR24060,Pfam_domain:PF00003		R/Q		A	low	2228/3151	1.50E-05	getma.org/?cm=msa&ty=f&p=GRM2_HUMAN&rb=577&re=817&var=R665Q	deleterious(0.02)	C9JD41_HUMAN			YES	GRM2,missense_variant,p.Arg665Gln,ENST00000395052,NM_000839.3;GRM2,intron_variant,,ENST00000442933,;GRM2,non_coding_transcript_exon_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000496661,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,3_prime_UTR_variant,,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;							MODERATE	1994/2619	R665Q	GRM2_HUMAN			Transcript		benign(0.064)	.	ENSP00000378492	8.24E-06	CCDS2834.1			1	
ZNF679	0	LGGM	GRCh37	7	63726627	63726627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	38	8	.	.	ENST00000421025.1:c.616C>A	p.His206Asn	p.H206N	ENST00000421025	NM_153363.2	206	Cat/Aat	0	1		UPI000045756A	0	getma.org/pdb.php?prot=ZN679_HUMAN&from=199&to=223&var=H206N	ENST00000255746		ENSG00000197123	28650		46	3.195		HGNC	p.H206N		ZNF679		SNV							ENST00000255746	protein_coding	getma.org/?cm=var&var=hg19,7,63726627,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		H/N		A	medium	616/1289		getma.org/?cm=msa&ty=f&p=ZN679_HUMAN&rb=179&re=243&var=H206N	deleterious(0.03)					ZNF679,missense_variant,p.His206Asn,ENST00000421025,NM_153363.2,NM_001159524.1;ZNF679,missense_variant,p.His206Asn,ENST00000255746,NM_001159524.1;							MODERATE	616/1236	H206N	ZN679_HUMAN			Transcript		benign(0.227)	.	ENSP00000255746		CCDS47592.1			1	
OR4A47	0	LGGM	GRCh37	11	48510525	48510525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	41	8	.	.	ENST00000446524.1:c.181C>T	p.Leu61Phe	p.L61F	ENST00000446524	NM_001005512.2	61	Ctt/Ttt	0	1	1	UPI00001971E5	0	getma.org/pdb.php?prot=OR4A4_HUMAN&from=1&to=136&var=L61F	ENST00000446524		ENSG00000237388	31266		49	4.09		HGNC	p.L61F		OR4A47		SNV							ENST00000446524	protein_coding	getma.org/?cm=var&var=hg19,11,48510525,C,T&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		L/F		T	high	257/1064		getma.org/?cm=msa&ty=f&p=OR4A4_HUMAN&rb=1&re=136&var=L61F	deleterious_low_confidence(0)				YES	OR4A47,missense_variant,p.Leu61Phe,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;							MODERATE	181/930	L61F	O4A47_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000412752		CCDS31490.1			1	
MLLT1	0	LGGM	GRCh37	19	6270730	6270730	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	12	8	.	.	ENST00000252674.7:c.53A>T	p.Gln18Leu	p.Q18L	ENST00000252674	NM_005934.3	18	cAa/cTa	0	1	1	UPI000006F7B3	0	NA	ENST00000252674		ENSG00000130382	7134		20	1.59		HGNC	p.Q18L		MLLT1		SNV							ENST00000252674	protein_coding	getma.org/?cm=var&var=hg19,19,6270730,T,A&fts=all		PROSITE_profiles:PS51037,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF14		Q/L		A	low	217/1931		getma.org/?cm=msa&ty=f&p=ENL_HUMAN&rb=8&re=112&var=Q18L	deleterious(0.04)				YES	MLLT1,missense_variant,p.Gln18Leu,ENST00000252674,NM_005934.3;							MODERATE	53/1680	Q18L	ENL_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000252674		CCDS12160.1			1	
ANXA3	0	LGGM	GRCh37	4	79503439	79503439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	10	9	.	.	ENST00000264908.6:c.307A>G	p.Met103Val	p.M103V	ENST00000264908	NM_005139.2	103	Atg/Gtg	0	1	1	UPI0000110519	0	getma.org/pdb.php?prot=ANXA3_HUMAN&from=94&to=159&var=M103V	ENST00000264908		ENSG00000138772	541		19	2.285		HGNC	p.M103V	rs771235931	ANXA3	6.11E-05	SNV							ENST00000264908	protein_coding	getma.org/?cm=var&var=hg19,4,79503439,A,G&fts=all		hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,Gene3D:1.10.220.10,Pfam_domain:PF00191,Superfamily_domains:SSF47874,Prints_domain:PR00196		M/V		G	medium	686/1657		getma.org/?cm=msa&ty=f&p=ANXA3_HUMAN&rb=94&re=159&var=M103V	tolerated(0.12)	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN			YES	ANXA3,missense_variant,p.Met103Val,ENST00000264908,NM_005139.2;ANXA3,missense_variant,p.Met64Val,ENST00000503570,;ANXA3,missense_variant,p.Met64Val,ENST00000512884,;ANXA3,missense_variant,p.Met103Val,ENST00000514171,;ANXA3,missense_variant,p.Met103Val,ENST00000508214,;ANXA3,missense_variant,p.Met103Val,ENST00000512373,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;							MODERATE	307/972	M103V	ANXA3_HUMAN			Transcript		benign(0.376)	.	ENSP00000264908	8.24E-06	CCDS3584.1			1	
EFCAB8	0	LGGM	GRCh37	20	31473329	31473329	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	12	9	.	.	ENST00000400522.4:c.450G>T	p.Val150=	p.V150=	ENST00000400522		150	gtG/gtT	0	1	1	UPI0002466C6B	0		ENST00000400522		ENSG00000215529	34532		21			HGNC	p.V150V		EFCAB8		SNV							ENST00000400522	protein_coding					V		T		544/1281							YES	EFCAB8,synonymous_variant,p.=,ENST00000400522,;							LOW	450/1187		EFCB8_HUMAN			Transcript			.	ENSP00000383366					1	
KMT2D	0	LGGM	GRCh37	12	49427611	49427611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	20	9	.	.	ENST00000301067.7:c.10877G>T	p.Arg3626Leu	p.R3626L	ENST00000301067	NM_003482.3	3626	cGg/cTg	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		29	0.345		HGNC	p.R3626L		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49427611,C,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324		R/L		A	neutral	10877/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=3571&re=4539&var=R3626L		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Arg3626Leu,ENST00000301067,NM_003482.3;KMT2D,downstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000549799,;KMT2D,upstream_gene_variant,,ENST00000552391,;							MODERATE	10877/16614	R3626L	KMT2D_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000301067		CCDS44873.1			1	
FAM161A	0	LGGM	GRCh37	2	62053645	62053645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	7	10	.	.	ENST00000404929.1:c.2096A>G	p.Lys699Arg	p.K699R	ENST00000404929	NM_001201543.1	699	aAa/aGa	0	1		UPI0000160B77	0	NA	ENST00000405894		ENSG00000170264	25808		17	0.695		HGNC	p.K699R		FAM161A		SNV			1				ENST00000404929	protein_coding	getma.org/?cm=var&var=hg19,2,62053645,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21501,hmmpanther:PTHR21501:SF3		K/R		C	neutral	2030/3684		getma.org/?cm=msa&ty=f&p=F161A_HUMAN&rb=579&re=660&var=K643R	deleterious(0.04)					FAM161A,missense_variant,p.Lys699Arg,ENST00000404929,NM_001201543.1;FAM161A,missense_variant,p.Lys643Arg,ENST00000405894,NM_032180.2;FAM161A,3_prime_UTR_variant,,ENST00000418113,;FAM161A,3_prime_UTR_variant,,ENST00000456262,;FAM161A,downstream_gene_variant,,ENST00000478494,;							MODERATE	1928/1983	K643R	F161A_HUMAN			Transcript		unknown(0)	.	ENSP00000385893		CCDS42687.2			1	
DMRT3	0	LGGM	GRCh37	9	990426	990426	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	18	10	.	.	ENST00000190165.2:c.840C>G	p.Ser280Arg	p.S280R	ENST00000190165	NM_021240.3	280	agC/agG	0	1	1	UPI0000073634	0	NA	ENST00000190165		ENSG00000064218	13909		28	-0.28		HGNC	p.S280R		DMRT3		SNV							ENST00000190165	protein_coding	getma.org/?cm=var&var=hg19,9,990426,C,G&fts=all		hmmpanther:PTHR12322:SF62,hmmpanther:PTHR12322,Pfam_domain:PF03474,Superfamily_domains:SSF46934		S/R		G	neutral	878/2183		getma.org/?cm=msa&ty=f&p=DMRT3_HUMAN&rb=248&re=286&var=S280R	tolerated(0.49)	Q9NRR0_HUMAN			YES	DMRT3,missense_variant,p.Ser280Arg,ENST00000190165,NM_021240.3;DMRT3,downstream_gene_variant,,ENST00000417254,;							MODERATE	840/1419	S280R	DMRT3_HUMAN			Transcript		benign(0.317)	.	ENSP00000190165		CCDS6443.1			1	
AUTS2	0	LGGM	GRCh37	7	70252228	70252228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	14	10	.	.	ENST00000342771.4:c.2342C>A	p.Pro781His	p.P781H	ENST00000342771	NM_015570.2	781	cCc/cAc	0	1	1	UPI0000126665	0	NA	ENST00000342771		ENSG00000158321	14262		24	1.865		HGNC	p.P781H		AUTS2		SNV			1				ENST00000342771	protein_coding	getma.org/?cm=var&var=hg19,7,70252228,C,A&fts=all		Pfam_domain:PF15336,hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5		P/H		A	low	2663/6173		getma.org/?cm=msa&ty=f&p=AUTS2_HUMAN&rb=1&re=1257&var=P781H	deleterious(0.02)	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN			YES	AUTS2,missense_variant,p.Pro781His,ENST00000342771,NM_015570.2;AUTS2,missense_variant,p.Pro757His,ENST00000406775,NM_001127231.1;AUTS2,missense_variant,p.Pro61His,ENST00000418686,;AUTS2,intron_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000439256,;							MODERATE	2342/3780	P781H	AUTS2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000344087		CCDS5539.1			1	
STIL	0	LGGM	GRCh37	1	47755207	47755207	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	42	10	.	.	ENST00000371877.3:c.923A>G	p.His308Arg	p.H308R	ENST00000371877		308	cAt/cGt	0	1		UPI0000470133	0	NA	ENST00000360380		ENSG00000123473	10879		52	2.085		HGNC	p.H308R	rs753511515	STIL		SNV			1				ENST00000396221	protein_coding	getma.org/?cm=var&var=hg19,1,47755207,T,C&fts=all		hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128,Pfam_domain:PF15253		H/R		C	medium	1287/5225	1.50E-05	getma.org/?cm=msa&ty=f&p=STIL_HUMAN&rb=12&re=433&var=H308R	tolerated(0.05)	Q5T0D0_HUMAN				STIL,missense_variant,p.His308Arg,ENST00000360380,NM_001282936.1;STIL,missense_variant,p.His308Arg,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,missense_variant,p.His308Arg,ENST00000371877,;STIL,missense_variant,p.His308Arg,ENST00000243182,;STIL,missense_variant,p.His308Arg,ENST00000396221,NM_001282937.1;STIL,missense_variant,p.His261Arg,ENST00000447475,;							MODERATE	923/3864	H308R	STIL_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000353544	8.24E-06	CCDS548.1			1	
MUC4	0	LGGM	GRCh37	3	195506766	195506766	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	58	11	.	.	ENST00000463781.3:c.11685C>T	p.Ser3895=	p.S3895=	ENST00000463781	NM_018406.6	3895	tcC/tcT	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		69			HGNC	p.S3895S		MUC4		SNV							ENST00000463781	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		S		A		12145/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	11685/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
TRPS1	0	LGGM	GRCh37	8	116617192	116617192	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	38	11	.	.	ENST00000395715.3:c.1004A>C	p.Lys335Thr	p.K335T	ENST00000395715	NM_014112.2	335	aAa/aCa	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		49	0.695		HGNC	p.K322T		TRPS1		SNV			1				ENST00000519674	protein_coding	getma.org/?cm=var&var=hg19,8,116617192,T,G&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6		K/T		G	neutral	1125/5480		getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=207&re=406&var=K322T	deleterious_low_confidence(0)					TRPS1,missense_variant,p.Lys335Thr,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Lys322Thr,ENST00000220888,;TRPS1,missense_variant,p.Lys326Thr,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Lys276Thr,ENST00000519076,;TRPS1,missense_variant,p.Lys322Thr,ENST00000519674,;TRPS1,missense_variant,p.Lys326Thr,ENST00000517323,;							MODERATE	965/3846	K322T	TRPS1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000220888					1	
TP53	0	LGGM	GRCh37	17	7578212	7578212	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	9	11	.	.	ENST00000269305.4:c.637C>T	p.Arg213Ter	p.R213*	ENST00000269305	NM_001126112.2	213	Cga/Tga	0	1	1	UPI000002ED67	0	NA	ENST00000269305	pathogenic	ENSG00000141510	11998		20	0		HGNC	p.R213X	rs397516436,TP53_g.12706C>T,COSM10654,COSM99618,COSM99615,COSM99616,COSM3378350,COSM1638393,COSM99617	TP53		SNV			1			1,0,1,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7578212,G,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/*		A	NA	827/2579		NA		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			YES	TP53,stop_gained,p.Arg213Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg213Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg213Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg213Ter,ENST00000445888,;TP53,stop_gained,p.Arg213Ter,ENST00000359597,;TP53,stop_gained,p.Arg213Ter,ENST00000413465,;TP53,stop_gained,p.Arg81Ter,ENST00000509690,;TP53,stop_gained,p.Arg120Ter,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,;					0,0,1,1,1,1,1,1,1		HIGH	637/1182	R213*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
ITCH	0	LGGM	GRCh37	20	33067498	33067498	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	29	11	.	.	ENST00000262650.6:c.1845A>C	p.Ala615=	p.A615=	ENST00000262650		615	gcA/gcC	0	1	1	UPI00000731C2	0		ENST00000262650		ENSG00000078747	13890		40			HGNC	p.A615A		ITCH		SNV			1				ENST00000262650	protein_coding			Pfam_domain:PF00632,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66,SMART_domains:SM00119,Superfamily_domains:SSF56204		A		C		1981/3089							YES	ITCH,synonymous_variant,p.=,ENST00000374864,NM_001257137.1,NM_031483.5,NM_001257138.1;ITCH,synonymous_variant,p.=,ENST00000262650,;ITCH,synonymous_variant,p.=,ENST00000535650,;ITCH,splice_acceptor_variant,,ENST00000461661,;ITCH,non_coding_transcript_exon_variant,,ENST00000483727,;FDX1P1,upstream_gene_variant,,ENST00000449115,;							LOW	1845/2712		ITCH_HUMAN			Transcript			.	ENSP00000262650		CCDS58768.1			1	
DDHD2	0	LGGM	GRCh37	8	38110319	38110319	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	24	12	.	.	ENST00000397166.2:c.1697A>C	p.Lys566Thr	p.K566T	ENST00000397166	NM_015214.2	566	aAa/aCa	0	1	1	UPI0000160E07	0	NA	ENST00000397166		ENSG00000085788	29106		36	2.095		HGNC	p.K566T		DDHD2		SNV			1				ENST00000397166	protein_coding	getma.org/?cm=var&var=hg19,8,38110319,A,C&fts=all		Pfam_domain:PF02862,hmmpanther:PTHR15457:SF7,hmmpanther:PTHR15457,PROSITE_profiles:PS51043		K/T		C	medium	2222/4921		getma.org/?cm=msa&ty=f&p=DDHD2_HUMAN&rb=495&re=700&var=K566T	deleterious(0)	H0YE64_HUMAN,E9PQY9_HUMAN,E9PPH8_HUMAN,E9PP45_HUMAN,E9PK57_HUMAN,B3KXB5_HUMAN			YES	DDHD2,missense_variant,p.Lys566Thr,ENST00000397166,NM_015214.2;DDHD2,missense_variant,p.Lys566Thr,ENST00000520272,NM_001164232.1;DDHD2,missense_variant,p.Lys185Thr,ENST00000517385,;DDHD2,missense_variant,p.Lys17Thr,ENST00000529845,;DDHD2,missense_variant,p.Lys68Thr,ENST00000526144,;DDHD2,upstream_gene_variant,,ENST00000528613,;DDHD2,downstream_gene_variant,,ENST00000532106,;DDHD2,downstream_gene_variant,,ENST00000528888,;DDHD2,non_coding_transcript_exon_variant,,ENST00000520176,;DDHD2,non_coding_transcript_exon_variant,,ENST00000528504,;DDHD2,non_coding_transcript_exon_variant,,ENST00000524545,;DDHD2,downstream_gene_variant,,ENST00000527415,;DDHD2,downstream_gene_variant,,ENST00000528148,;							MODERATE	1697/2136	K566T	DDHD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380352		CCDS34883.1			1	
TRPS1	0	LGGM	GRCh37	8	116617174	116617174	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	47	13	.	.	ENST00000395715.3:c.1022G>A	p.Gly341Glu	p.G341E	ENST00000395715	NM_014112.2	341	gGg/gAg	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		60	0.695		HGNC	p.G328E	COSM748544,COSM748543	TRPS1		SNV			1			1,1	ENST00000519674	protein_coding	getma.org/?cm=var&var=hg19,8,116617174,C,T&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6		G/E		T	neutral	1143/5480		getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=207&re=406&var=G328E	deleterious_low_confidence(0)					TRPS1,missense_variant,p.Gly341Glu,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Gly328Glu,ENST00000220888,;TRPS1,missense_variant,p.Gly332Glu,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Gly282Glu,ENST00000519076,;TRPS1,missense_variant,p.Gly328Glu,ENST00000519674,;TRPS1,missense_variant,p.Gly332Glu,ENST00000517323,;					1,1		MODERATE	983/3846	G328E	TRPS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000220888					1	
MEGF11	0	LGGM	GRCh37	15	66416238	66416238	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	27	13	.	.	ENST00000409699.2:c.199C>T	p.Arg67Trp	p.R67W	ENST00000409699		67	Cgg/Tgg	0	1	1	UPI00001FE6DA	0	NA	ENST00000409699		ENSG00000157890	29635		40	1.61		HGNC	p.R67W	COSM701449,COSM3981620,COSM701448	MEGF11		SNV						1,1,1	ENST00000409699	protein_coding	getma.org/?cm=var&var=hg19,15,66416238,G,A&fts=all		PROSITE_profiles:PS51041,hmmpanther:PTHR24035:SF10,hmmpanther:PTHR24035		R/W		A	low	372/6163		getma.org/?cm=msa&ty=f&p=MEG11_HUMAN&rb=24&re=101&var=R67W	deleterious(0)	C9JYE7_HUMAN			YES	MEGF11,missense_variant,p.Arg67Trp,ENST00000409699,;MEGF11,missense_variant,p.Arg67Trp,ENST00000360698,;MEGF11,missense_variant,p.Arg67Trp,ENST00000422354,NM_032445.2;MEGF11,splice_region_variant,p.=,ENST00000395625,;MEGF11,splice_region_variant,p.=,ENST00000288745,;MEGF11,splice_region_variant,,ENST00000395614,;					1,1,1		MODERATE	199/3135	R67W	MEG11_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000386908		CCDS10213.2			1	
C6	0	LGGM	GRCh37	5	41181565	41181565	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	26	13	.	.	ENST00000263413.3:c.823G>A	p.Gly275Arg	p.G275R	ENST00000263413	NM_001115131.2	275	Ggg/Agg	0	1	1	UPI000013D401	0	getma.org/pdb.php?prot=CO6_HUMAN&from=176&to=522&var=G275R	ENST00000263413		ENSG00000039537	1339	0.000868	39	0.41		HGNC	p.G275R	rs140129534	C6		SNV	G:0.0014		1				ENST00000337836	protein_coding	getma.org/?cm=var&var=hg19,5,41181565,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23,PROSITE_profiles:PS51412		G/R	G:0.0003	T	neutral	1088/3661		getma.org/?cm=msa&ty=f&p=CO6_HUMAN&rb=176&re=522&var=G275R	tolerated(0.57)	C9JX36_HUMAN,C9JC72_HUMAN			YES	C6,missense_variant,p.Gly275Arg,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Gly275Arg,ENST00000337836,NM_000065.3;C6,non_coding_transcript_exon_variant,,ENST00000475349,;		G:0.0004					MODERATE	823/2805	G275R	CO6_HUMAN			Transcript		benign(0.002)	common_variant	ENSP00000263413	8.24E-05	CCDS3936.1			1	
TNR	0	LGGM	GRCh37	1	175372721	175372721	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	68	13	.	.	ENST00000367674.2:c.531C>T	p.Gly177=	p.G177=	ENST00000367674		177	ggC/ggT	0	1		UPI000013D41C	0		ENST00000263525		ENSG00000116147	11953		81			HGNC	p.G177G	COSM4025348	TNR		SNV						1	ENST00000367674	protein_coding			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF39		G		A		1086/5190				A1L306_HUMAN				TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;					1		LOW	531/4077		TENR_HUMAN			Transcript			.	ENSP00000263525		CCDS1318.1			1	
TCHHL1	0	LGGM	GRCh37	1	152058949	152058949	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	92	14	.	.	ENST00000368806.1:c.1209A>T	p.Ala403=	p.A403=	ENST00000368806	NM_001008536.1	403	gcA/gcT	0	1	1	UPI0000496834	0		ENST00000368806		ENSG00000182898	31796		106			HGNC	p.A403A		TCHHL1		SNV							ENST00000368806	protein_coding			hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53		A		A		1274/3603							YES	TCHHL1,synonymous_variant,p.=,ENST00000368806,NM_001008536.1;							LOW	1209/2715		TCHL1_HUMAN			Transcript			.	ENSP00000357796		CCDS30857.1			1	
PLEKHH2	0	LGGM	GRCh37	2	43980762	43980762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	27	14	.	.	ENST00000282406.4:c.3658T>C	p.Tyr1220His	p.Y1220H	ENST00000282406	NM_172069.3	1220	Tat/Cat	0	1	1	UPI000016021B	0	getma.org/pdb.php?prot=PKHH2_HUMAN&from=1121&to=1451&var=Y1220H	ENST00000282406		ENSG00000152527	30506		41	2.465		HGNC	p.Y1220H		PLEKHH2		SNV							ENST00000282406	protein_coding	getma.org/?cm=var&var=hg19,2,43980762,T,C&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,SMART_domains:SM00295,Superfamily_domains:SSF47031		Y/H		C	medium	3768/6981		getma.org/?cm=msa&ty=f&p=PKHH2_HUMAN&rb=1121&re=1451&var=Y1220H	deleterious(0.03)				YES	PLEKHH2,missense_variant,p.Tyr1220His,ENST00000282406,NM_172069.3;PLEKHH2,missense_variant,p.Tyr24His,ENST00000490038,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;							MODERATE	3658/4482	Y1220H	PKHH2_HUMAN			Transcript		benign(0.091)	.	ENSP00000282406		CCDS1812.1			1	
CRYZL1	0	LGGM	GRCh37	21	34969593	34969593	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	24	15	.	.	ENST00000381554.3:c.791A>T	p.Asn264Ile	p.N264I	ENST00000381554	NM_145858.2	264	aAc/aTc	0	1	1	UPI0000038C61	0	NA	ENST00000381554		ENSG00000205758	2420		39	2.075		HGNC	p.N288I		CRYZL1		SNV							ENST00000361534	protein_coding	getma.org/?cm=var&var=hg19,21,34969593,T,A&fts=all		hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF10,SMART_domains:SM00829		N/I		A	medium	877/1617		getma.org/?cm=msa&ty=f&p=QORL1_HUMAN&rb=229&re=349&var=N264I	deleterious(0)	C9K0F7_HUMAN,C9JQD0_HUMAN,C9JAL0_HUMAN			YES	CRYZL1,missense_variant,p.Asn288Ile,ENST00000361534,;CRYZL1,missense_variant,p.Asn249Ile,ENST00000290244,;CRYZL1,missense_variant,p.Asn264Ile,ENST00000381554,NM_145858.2;CRYZL1,missense_variant,p.Asn264Ile,ENST00000381540,;CRYZL1,missense_variant,p.Asn208Ile,ENST00000440526,;CRYZL1,missense_variant,p.Asn40Ile,ENST00000441940,;CRYZL1,intron_variant,,ENST00000445393,;AP000304.12,intron_variant,,ENST00000429238,;CRYZL1,intron_variant,,ENST00000414079,;CRYZL1,downstream_gene_variant,,ENST00000426935,;CRYZL1,downstream_gene_variant,,ENST00000431177,;CRYZL1,non_coding_transcript_exon_variant,,ENST00000480893,;CRYZL1,intron_variant,,ENST00000479964,;CRYZL1,3_prime_UTR_variant,,ENST00000420072,;CRYZL1,3_prime_UTR_variant,,ENST00000429827,;CRYZL1,3_prime_UTR_variant,,ENST00000452420,;CRYZL1,3_prime_UTR_variant,,ENST00000437996,;							MODERATE	791/1050	N264I	QORL1_HUMAN			Transcript		possibly_damaging(0.628)	.	ENSP00000370966		CCDS13633.2			1	
OR4C15	0	LGGM	GRCh37	11	55322607	55322607	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	59	15	.	.	ENST00000314644.2:c.825G>C	p.Leu275Phe	p.L275F	ENST00000314644	NM_001001920.1	275	ttG/ttC	0	1	1	UPI00003B288E	0	NA	ENST00000314644		ENSG00000181939	15171		74	1.94		HGNC	p.L275F		OR4C15		SNV							ENST00000314644	protein_coding	getma.org/?cm=var&var=hg19,11,55322607,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321		L/F		C	medium	825/1113		getma.org/?cm=msa&ty=f&p=OR4CF_HUMAN&rb=138&re=279&var=L221F	deleterious_low_confidence(0.03)				YES	OR4C15,missense_variant,p.Leu275Phe,ENST00000314644,NM_001001920.1;							MODERATE	825/1113	L221F	OR4CF_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000324958		CCDS31501.1			1	
LATS2	0	LGGM	GRCh37	13	21549134	21549134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	48	16	.	.	ENST00000382592.4:c.3142G>A	p.Asp1048Asn	p.D1048N	ENST00000382592	NM_014572.2	1048	Gac/Aac	0	1	1	UPI000013DBF5	0	NA	ENST00000382592		ENSG00000150457	6515		64	2.02		HGNC	p.D1048N		LATS2		SNV							ENST00000542899	protein_coding	getma.org/?cm=var&var=hg19,13,21549134,C,T&fts=all		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149,PROSITE_profiles:PS51285		D/N		T	medium	3548/5511		getma.org/?cm=msa&ty=f&p=LATS2_HUMAN&rb=974&re=1052&var=D1048N	deleterious(0.02)				YES	LATS2,missense_variant,p.Asp1048Asn,ENST00000382592,NM_014572.2;LATS2,missense_variant,p.Asp1048Asn,ENST00000542899,;							MODERATE	3142/3267	D1048N	LATS2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000372035		CCDS9294.1			1	
SEMA3D	0	LGGM	GRCh37	7	84666203	84666203	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	35	17	.	.	ENST00000284136.6:c.1191+2T>C		p.X397_splice	ENST00000284136	NM_152754.2			0	1	1	UPI0000135A66	0		ENST00000284136		ENSG00000153993	10726		52			HGNC	-		SEMA3D		SNV			1				ENST00000284136	protein_coding							G		-/6265							YES	SEMA3D,splice_donor_variant,,ENST00000284136,NM_152754.2;SEMA3D,splice_donor_variant,,ENST00000484038,;SEMA3D,downstream_gene_variant,,ENST00000463315,;							HIGH	1191/2334		SEM3D_HUMAN			Transcript			.	ENSP00000284136		CCDS34676.1			1	
EIF2AK2	0	LGGM	GRCh37	2	37366790	37366790	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	64	17	.	.	ENST00000233057.4:c.500C>A	p.Ser167Ter	p.S167*	ENST00000233057	NM_001135651.2	167	tCa/tAa	0	1	1	UPI000000D925	0	NA	ENST00000233057		ENSG00000055332	9437		81	0		HGNC	p.S167X		EIF2AK2		SNV							ENST00000395127	protein_coding	getma.org/?cm=var&var=hg19,2,37366790,G,T&fts=all		PROSITE_profiles:PS50137,hmmpanther:PTHR11042:SF77,hmmpanther:PTHR11042,Gene3D:3.30.160.20,Superfamily_domains:SSF54768		S/*		T	NA	823/10042		NA		F8WBH4_HUMAN,C9JZT2_HUMAN,B7ZKK7_HUMAN			YES	EIF2AK2,stop_gained,p.Ser167Ter,ENST00000233057,NM_001135651.2;EIF2AK2,stop_gained,p.Ser167Ter,ENST00000395127,NM_002759.3;EIF2AK2,stop_gained,p.Ser167Ter,ENST00000405334,NM_001135652.2;EIF2AK2,downstream_gene_variant,,ENST00000411537,;EIF2AK2,downstream_gene_variant,,ENST00000390013,;EIF2AK2,non_coding_transcript_exon_variant,,ENST00000496059,;							HIGH	500/1656	S167*	E2AK2_HUMAN			Transcript			.	ENSP00000233057		CCDS1786.1			1	
CCDC59	0	LGGM	GRCh37	12	82750955	82750955	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	31	17	.	.	ENST00000256151.7:c.248C>G	p.Ser83Cys	p.S83C	ENST00000256151	NM_014167.4	83	tCt/tGt	0	1	1	UPI0000034DFE	0	NA	ENST00000256151		ENSG00000133773	25005		48	1.2		HGNC	p.S83C		CCDC59		SNV							ENST00000256151	protein_coding	getma.org/?cm=var&var=hg19,12,82750955,G,C&fts=all		Prints_domain:PR01854,hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657		S/C		C	low	660/1983		getma.org/?cm=msa&ty=f&p=TAP26_HUMAN&rb=1&re=135&var=S83C	deleterious(0.03)				YES	CCDC59,missense_variant,p.Ser83Cys,ENST00000256151,NM_014167.4;CCDC59,missense_variant,p.Ser83Cys,ENST00000552377,;METTL25,upstream_gene_variant,,ENST00000248306,NM_032230.2;METTL25,upstream_gene_variant,,ENST00000548200,;METTL25,upstream_gene_variant,,ENST00000550058,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552412,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;METTL25,upstream_gene_variant,,ENST00000547985,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,non_coding_transcript_exon_variant,,ENST00000547758,;CCDC59,upstream_gene_variant,,ENST00000550589,;							MODERATE	248/726	S83C	TAP26_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000256151		CCDS9023.1			1	
PPFIBP1	0	LGGM	GRCh37	12	27787886	27787886	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	44	18	.	.	ENST00000318304.8:c.108A>G	p.Gln36=	p.Q36=	ENST00000318304	NM_177444.2	36	caA/caG	0	1	1	UPI00004565E6	0		ENST00000318304		ENSG00000110841	9249	8.65E-05	62			HGNC	p.Q36Q	rs373361507	PPFIBP1		SNV	G:0.0005			0.000384			ENST00000535575	protein_coding			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16		Q	G:0	G		391/6001				F5H6Q7_HUMAN			YES	PPFIBP1,synonymous_variant,p.=,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,synonymous_variant,p.=,ENST00000228425,NM_003622.3;PPFIBP1,synonymous_variant,p.=,ENST00000542629,;PPFIBP1,synonymous_variant,p.=,ENST00000545334,;PPFIBP1,synonymous_variant,p.=,ENST00000535047,;PPFIBP1,synonymous_variant,p.=,ENST00000542187,;PPFIBP1,synonymous_variant,p.=,ENST00000535575,;PPFIBP1,intron_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,intron_variant,,ENST00000540114,;PPFIBP1,intron_variant,,ENST00000538433,;PPFIBP1,synonymous_variant,p.=,ENST00000545381,;							LOW	108/3036		LIPB1_HUMAN			Transcript			.	ENSP00000314724	4.12E-05	CCDS55812.1			1	
AC026703.1	0	LGGM	GRCh37	5	32789680	32789680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	35	19	.	.	ENST00000326958.1:c.173C>A	p.Ser58Tyr	p.S58Y	ENST00000326958		58	tCt/tAt	0	1	1	UPI0000073BD2	0		ENST00000326958		ENSG00000181495			54			Clone_based_ensembl_gene	p.S58Y		AC026703.1		SNV							ENST00000326958	protein_coding					S/Y		A		736/2875							YES	AC026703.1,missense_variant,p.Ser58Tyr,ENST00000326958,;NPR3,3_prime_UTR_variant,,ENST00000265074,NM_001204375.1,NM_000908.3;NPR3,downstream_gene_variant,,ENST00000434067,;NPR3,downstream_gene_variant,,ENST00000415167,;NPR3,downstream_gene_variant,,ENST00000415685,NM_001204376.1;							MODERATE	173/366					Transcript		possibly_damaging(0.781)	.	ENSP00000318340					1	
NGLY1	0	LGGM	GRCh37	3	25805624	25805624	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	40	20	.	.	ENST00000280700.5:c.425C>T	p.Pro142Leu	p.P142L	ENST00000280700	NM_018297.3	142	cCc/cTc	0	1	1	UPI0000001239	0	NA	ENST00000280700		ENSG00000151092	17646		60	1.39		HGNC	p.P142L	rs370585628	NGLY1		SNV	A:0		1				ENST00000396649	protein_coding	getma.org/?cm=var&var=hg19,3,25805624,G,A&fts=all		hmmpanther:PTHR12143,hmmpanther:PTHR12143:SF19		P/L	A:0.0001	A	low	586/2473	1.50E-05	getma.org/?cm=msa&ty=f&p=NGLY1_HUMAN&rb=106&re=257&var=P142L	tolerated(0.05)	C9JU75_HUMAN			YES	NGLY1,missense_variant,p.Pro142Leu,ENST00000428257,NM_001145293.1;NGLY1,missense_variant,p.Pro142Leu,ENST00000280700,NM_018297.3;NGLY1,missense_variant,p.Pro139Leu,ENST00000308710,;NGLY1,missense_variant,p.Pro100Leu,ENST00000417874,NM_001145294.1;NGLY1,missense_variant,p.Pro142Leu,ENST00000396649,NM_001145295.1;NGLY1,missense_variant,p.Pro65Leu,ENST00000422724,;NGLY1,missense_variant,p.Pro65Leu,ENST00000427041,;AC092798.1,downstream_gene_variant,,ENST00000577400,;NGLY1,non_coding_transcript_exon_variant,,ENST00000461491,;NGLY1,missense_variant,p.Pro134Leu,ENST00000280699,;NGLY1,non_coding_transcript_exon_variant,,ENST00000493324,;							MODERATE	425/1965	P142L	NGLY1_HUMAN			Transcript		benign(0.019)	.	ENSP00000280700	8.24E-06	CCDS33719.1			1	
NGLY1	0	LGGM	GRCh37	3	25805625	25805625	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	39	21	.	.	ENST00000280700.5:c.424C>A	p.Pro142Thr	p.P142T	ENST00000280700	NM_018297.3	142	Ccc/Acc	0	1	1	UPI0000001239	0	NA	ENST00000280700		ENSG00000151092	17646		60	1.735		HGNC	p.P142T		NGLY1		SNV			1				ENST00000396649	protein_coding	getma.org/?cm=var&var=hg19,3,25805625,G,T&fts=all		hmmpanther:PTHR12143,hmmpanther:PTHR12143:SF19		P/T		T	low	585/2473		getma.org/?cm=msa&ty=f&p=NGLY1_HUMAN&rb=106&re=257&var=P142T	tolerated(0.09)	C9JU75_HUMAN			YES	NGLY1,missense_variant,p.Pro142Thr,ENST00000428257,NM_001145293.1;NGLY1,missense_variant,p.Pro142Thr,ENST00000280700,NM_018297.3;NGLY1,missense_variant,p.Pro139Thr,ENST00000308710,;NGLY1,missense_variant,p.Pro100Thr,ENST00000417874,NM_001145294.1;NGLY1,missense_variant,p.Pro142Thr,ENST00000396649,NM_001145295.1;NGLY1,missense_variant,p.Pro65Thr,ENST00000422724,;NGLY1,missense_variant,p.Pro65Thr,ENST00000427041,;AC092798.1,downstream_gene_variant,,ENST00000577400,;NGLY1,non_coding_transcript_exon_variant,,ENST00000461491,;NGLY1,missense_variant,p.Pro134Thr,ENST00000280699,;NGLY1,non_coding_transcript_exon_variant,,ENST00000493324,;							MODERATE	424/1965	P142T	NGLY1_HUMAN			Transcript		benign(0.014)	.	ENSP00000280700		CCDS33719.1			1	
BRPF3	0	LGGM	GRCh37	6	36178176	36178176	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	37	22	.	.	ENST00000357641.6:c.2050G>T	p.Asp684Tyr	p.D684Y	ENST00000357641	NM_015695.2	684	Gac/Tac	0	1	1	UPI00001C1E4C	0	getma.org/pdb.php?prot=BRPF3_HUMAN&from=682&to=700&var=D684Y	ENST00000357641		ENSG00000096070	14256		59	3.02		HGNC	p.D684Y		BRPF3		SNV							ENST00000543502	protein_coding	getma.org/?cm=var&var=hg19,6,36178176,G,T&fts=all		Gene3D:1.20.920.10,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF19,SMART_domains:SM00297,Superfamily_domains:SSF47370		D/Y		T	medium	2303/6052		getma.org/?cm=msa&ty=f&p=BRPF3_HUMAN&rb=652&re=730&var=D684Y	deleterious(0)	A8WI62_HUMAN,A8WI61_HUMAN			YES	BRPF3,missense_variant,p.Asp684Tyr,ENST00000357641,NM_015695.2;BRPF3,missense_variant,p.Asp684Tyr,ENST00000543502,;BRPF3,missense_variant,p.Asp684Tyr,ENST00000339717,;BRPF3,missense_variant,p.Asp684Tyr,ENST00000443324,;BRPF3,missense_variant,p.Asp684Tyr,ENST00000534694,;BRPF3,missense_variant,p.Asp684Tyr,ENST00000534400,;BRPF3,downstream_gene_variant,,ENST00000527657,;BRPF3,missense_variant,p.Asp684Tyr,ENST00000449261,;BRPF3,3_prime_UTR_variant,,ENST00000441123,;BRPF3,3_prime_UTR_variant,,ENST00000532330,;BRPF3,upstream_gene_variant,,ENST00000441730,;BRPF3,upstream_gene_variant,,ENST00000532538,;							MODERATE	2050/3618	D684Y	BRPF3_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000350267		CCDS34437.1			1	
FEZ2	0	LGGM	GRCh37	2	36787990	36787990	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	106	24	.	.	ENST00000379245.4:c.922A>G	p.Ile308Val	p.I308V	ENST00000379245	NM_001042548.1	308	Atc/Gtc	0	1		UPI00002317C8	0		ENST00000405912		ENSG00000171055	3660		130			HGNC	p.I308V		FEZ2		SNV							ENST00000379245	protein_coding							C		-/1931				Q7Z674_HUMAN,Q6P2J5_HUMAN,F8WB37_HUMAN,F8W6C0_HUMAN				FEZ2,missense_variant,p.Ile308Val,ENST00000379245,NM_001042548.1;FEZ2,intron_variant,,ENST00000405912,NM_005102.2;FEZ2,intron_variant,,ENST00000305852,;FEZ2,intron_variant,,ENST00000441005,;FEZ2,intron_variant,,ENST00000357996,;FEZ2,non_coding_transcript_exon_variant,,ENST00000487919,;FEZ2,intron_variant,,ENST00000487282,;FEZ2,intron_variant,,ENST00000464964,;FEZ2,intron_variant,,ENST00000413938,;FEZ2,intron_variant,,ENST00000451623,;FEZ2,intron_variant,,ENST00000414288,;FEZ2,upstream_gene_variant,,ENST00000475815,;FEZ2,upstream_gene_variant,,ENST00000432869,;FEZ2,upstream_gene_variant,,ENST00000484205,;							MODIFIER	-/1062		FEZ2_HUMAN			Transcript			.	ENSP00000385112		CCDS46257.1			1	
CYP11B2	0	LGGM	GRCh37	8	143999228	143999228	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	61	24	.	.	ENST00000323110.2:c.29G>A	p.Cys10Tyr	p.C10Y	ENST00000323110	NM_000498.3	10	tGc/tAc	0	1	1	UPI00001282CF	0	NA	ENST00000323110		ENSG00000179142	2592		85	0.69		HGNC	p.C10Y		CYP11B2		SNV			1				ENST00000323110	protein_coding	getma.org/?cm=var&var=hg19,8,143999228,C,T&fts=all		hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279		C/Y		T	neutral	32/2936		getma.org/?cm=msa&ty=f&p=C11B2_HUMAN&rb=1&re=41&var=C10Y	deleterious(0.03)	Q14098_HUMAN			YES	CYP11B2,missense_variant,p.Cys10Tyr,ENST00000323110,NM_000498.3;GML,downstream_gene_variant,,ENST00000522728,;							MODERATE	29/1512	C10Y	C11B2_HUMAN			Transcript		benign(0.028)	.	ENSP00000325822		CCDS6393.1			1	
VSIG2	0	LGGM	GRCh37	11	124618339	124618339	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	18	24	.	.	ENST00000326621.5:c.798C>T	p.Phe266=	p.F266=	ENST00000326621	NM_014312.3	266	ttC/ttT	0	1	1	UPI0000035BBB	0		ENST00000326621		ENSG00000019102	17149		42			HGNC	p.F266F		VSIG2		SNV							ENST00000403470	protein_coding			hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF78		F		A		899/1148							YES	VSIG2,synonymous_variant,p.=,ENST00000403470,;VSIG2,synonymous_variant,p.=,ENST00000326621,NM_014312.3;ESAM,downstream_gene_variant,,ENST00000278927,NM_138961.2;NRGN,downstream_gene_variant,,ENST00000284292,NM_001126181.1,NM_006176.2;NRGN,downstream_gene_variant,,ENST00000412681,;ESAM,downstream_gene_variant,,ENST00000442070,;ESAM,downstream_gene_variant,,ENST00000444566,;RP11-677M14.2,upstream_gene_variant,,ENST00000531241,;ESAM,downstream_gene_variant,,ENST00000464067,;ESAM,downstream_gene_variant,,ENST00000485116,;ESAM,downstream_gene_variant,,ENST00000417453,;							LOW	798/984		VSIG2_HUMAN			Transcript			.	ENSP00000318684		CCDS8452.1			1	
GPR98	0	LGGM	GRCh37	5	90106901	90106901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	79	26	.	.	ENST00000405460.2:c.15824C>A	p.Pro5275His	p.P5275H	ENST00000405460	NM_032119.3	5275	cCc/cAc	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		105	1.905		HGNC	p.P5275H		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90106901,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		P/H		A	medium	15920/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=5096&re=5279&var=P5275H					YES	GPR98,missense_variant,p.Pro5275His,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Pro936His,ENST00000425867,;GPR98,downstream_gene_variant,,ENST00000513828,;							MODERATE	15824/18921	P5275H	GPR98_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000384582		CCDS47246.1			1	
NOD2	0	LGGM	GRCh37	16	50741810	50741810	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	50	28	.	.	ENST00000300589.2:c.585G>T	p.Leu195Phe	p.L195F	ENST00000300589	NM_022162.1	195	ttG/ttT	0	1	1	UPI000005027A	0	NA	ENST00000300589		ENSG00000167207	5331		78	1.61		HGNC	p.L195F		NOD2		SNV			1				ENST00000300589	protein_coding	getma.org/?cm=var&var=hg19,16,50741810,G,T&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF00619,PROSITE_profiles:PS50209,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,Superfamily_domains:SSF47986		L/F		T	low	690/4486		getma.org/?cm=msa&ty=f&p=NOD2_HUMAN&rb=131&re=216&var=L195F	deleterious(0.01)	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			YES	NOD2,missense_variant,p.Leu195Phe,ENST00000300589,NM_022162.1;NOD2,upstream_gene_variant,,ENST00000534057,;RP11-327F22.6,upstream_gene_variant,,ENST00000602304,;NOD2,non_coding_transcript_exon_variant,,ENST00000526417,;NOD2,intron_variant,,ENST00000532206,;NOD2,3_prime_UTR_variant,,ENST00000527070,;NOD2,upstream_gene_variant,,ENST00000534067,;NOD2,upstream_gene_variant,,ENST00000529633,;NOD2,upstream_gene_variant,,ENST00000524712,;NOD2,upstream_gene_variant,,ENST00000527052,;							MODERATE	585/3123	L195F	NOD2_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000300589		CCDS10746.1			1	
OR2A5	0	LGGM	GRCh37	7	143747686	143747686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	42	28	.	.	ENST00000408906.2:c.192C>A	p.His64Gln	p.H64Q	ENST00000408906	NM_012365.1	64	caC/caA	0	1	1	UPI0000061F52	0	getma.org/pdb.php?prot=OR2A5_HUMAN&from=1&to=138&var=H64Q	ENST00000408906		ENSG00000221836	8232		70	0.995		HGNC	p.H64Q		OR2A5		SNV							ENST00000408906	protein_coding	getma.org/?cm=var&var=hg19,7,143747686,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF232,Superfamily_domains:SSF81321		H/Q		A	low	226/1013		getma.org/?cm=msa&ty=f&p=OR2A5_HUMAN&rb=1&re=138&var=H64Q	deleterious(0.03)				YES	OR2A5,missense_variant,p.His64Gln,ENST00000408906,NM_012365.1;							MODERATE	192/936	H64Q	OR2A5_HUMAN			Transcript		benign(0.011)	.	ENSP00000386208		CCDS43668.1			1	
DNAH11	0	LGGM	GRCh37	7	21765513	21765513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	147	30	.	.	ENST00000328843.6:c.7372G>T	p.Asp2458Tyr	p.D2458Y	ENST00000328843		2458	Gat/Tat	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		177			HGNC	p.D2458Y		DNAH11		SNV			1				ENST00000328843	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		D/Y		T		7382/14167			deleterious(0)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Asp2458Tyr,ENST00000328843,;DNAH11,missense_variant,p.Asp2451Tyr,ENST00000409508,NM_001277115.1;							MODERATE	7351/13551					Transcript		probably_damaging(1)	.	ENSP00000475939		CCDS64602.1			1	
MUC4	0	LGGM	GRCh37	3	195513108	195513108	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	167	30	.	.	ENST00000463781.3:c.5343C>A	p.Gly1781=	p.G1781=	ENST00000463781	NM_018406.6	1781	ggC/ggA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		197			HGNC	p.G1781G	rs534762971	MUC4		SNV							ENST00000463781	protein_coding		T:0	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		G		T		5803/17110				O75456_HUMAN,E9PDY6_HUMAN	T:0	T:0	YES	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,;		T:0.0002					LOW	5343/16239				T:0	Transcript			.	ENSP00000417498		CCDS54700.1		T:0.001	1	
FREM2	0	LGGM	GRCh37	13	39264636	39264636	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	34	30	.	.	ENST00000280481.7:c.3155G>T	p.Gly1052Val	p.G1052V	ENST00000280481	NM_207361.4	1052	gGa/gTa	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		64	2.825		HGNC	p.G1052V		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39264636,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		G/V		T	medium	3371/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=1001&re=1200&var=G1052V	deleterious(0.04)				YES	FREM2,missense_variant,p.Gly1052Val,ENST00000280481,NM_207361.4;							MODERATE	3155/9510	G1052V	FREM2_HUMAN			Transcript		benign(0.003)	.	ENSP00000280481		CCDS31960.1			1	
TCF7L2	0	LGGM	GRCh37	10	114912151	114912165	+	inframe_deletion	In_Frame_Del	DEL	ACAGCTTCATATGCA	ACAGCTTCATATGCA	-	novel	by Submitter	H070599	H070599N.bam	ACAGCTTCATATGCA	ACAGCTTCATATGCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	55	31	.	.	ENST00000543371.1:c.1223_1237del	p.Gln408_Gln412del	p.Q408_Q412del	ENST00000543371	NM_001198531.1	407	cgACAGCTTCATATGCAa/cga	0	1		UPI0000136848	0		ENST00000355995		ENSG00000148737	11641		86			HGNC	p.384_389del		TCF7L2		deletion			1				ENST00000369397	protein_coding			PROSITE_profiles:PS50118,hmmpanther:PTHR10373:SF32,hmmpanther:PTHR10373,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095		RQLHMQ/R		-		1728-1742/4073				E2GH25_HUMAN				TCF7L2,inframe_deletion,p.Gln408_Gln412del,ENST00000355995,;TCF7L2,inframe_deletion,p.Gln408_Gln412del,ENST00000545257,;TCF7L2,inframe_deletion,p.Gln408_Gln412del,ENST00000536810,NM_001146285.1;TCF7L2,inframe_deletion,p.Gln408_Gln412del,ENST00000543371,NM_001198531.1,NM_001198526.1,NM_001146274.1;TCF7L2,inframe_deletion,p.Gln432_Gln436del,ENST00000355717,NM_001146286.1,NM_001198530.1,NM_001146283.1;TCF7L2,inframe_deletion,p.Gln408_Gln412del,ENST00000538897,NM_001146284.1,NM_001198529.1;TCF7L2,inframe_deletion,p.Gln385_Gln389del,ENST00000369397,NM_030756.4,NM_001198528.1,NM_001198527.1,NM_001198525.1;TCF7L2,inframe_deletion,p.Gln408_Gln412del,ENST00000534894,;TCF7L2,inframe_deletion,p.Gln124_Gln128del,ENST00000542695,;TCF7L2,inframe_deletion,p.Gln385_Gln389del,ENST00000352065,;TCF7L2,inframe_deletion,p.Gln51_Gln55del,ENST00000369386,;TCF7L2,inframe_deletion,p.Gln119_Gln123del,ENST00000369389,;TCF7L2,inframe_deletion,p.Gln125_Gln129del,ENST00000277945,;TCF7L2,non_coding_transcript_exon_variant,,ENST00000466338,;TCF7L2,upstream_gene_variant,,ENST00000480888,;TCF7L2,inframe_deletion,p.Gln39_Gln43del,ENST00000470254,;							MODERATE	1221-1235/1860		TF7L2_HUMAN			Transcript	2		.	ENSP00000348274					1	
RYR2	0	LGGM	GRCh37	1	237755092	237755092	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	160	33	.	.	ENST00000366574.2:c.4214T>A	p.Leu1405His	p.L1405H	ENST00000366574	NM_001035.2	1405	cTc/cAc	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		193	2.32		HGNC	p.L1405H		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237755092,T,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		L/H		A	medium	4531/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1337&re=1562&var=L1405H		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Leu1405His,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu1389His,ENST00000542537,;RYR2,missense_variant,p.Leu1403His,ENST00000360064,;							MODERATE	4214/14904	L1405H	RYR2_HUMAN			Transcript		benign(0.315)	.	ENSP00000355533		CCDS55691.1			1	
WDR63	0	LGGM	GRCh37	1	85592340	85592340	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	21	33	.	.	ENST00000294664.6:c.2259C>A	p.Ala753=	p.A753=	ENST00000294664	NM_145172.3	753	gcC/gcA	0	1	1	UPI00000744F1	0		ENST00000294664		ENSG00000162643	30711		54			HGNC	p.A753A		WDR63		SNV							ENST00000294664	protein_coding			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442		A		A		2439/2995							YES	WDR63,synonymous_variant,p.=,ENST00000294664,NM_145172.3;WDR63,synonymous_variant,p.=,ENST00000370596,;WDR63,synonymous_variant,p.=,ENST00000326813,NM_001288563.1;WDR63,synonymous_variant,p.=,ENST00000484007,;WDR63,3_prime_UTR_variant,,ENST00000464801,;							LOW	2259/2676		WDR63_HUMAN			Transcript			.	ENSP00000294664		CCDS702.1			1	
ZNF729	0	LGGM	GRCh37	19	22497879	22497879	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	42	34	.	.	ENST00000601693.1:c.1660A>C	p.Lys554Gln	p.K554Q	ENST00000601693		554	Aag/Cag	0	1	1	UPI000042600C	0	getma.org/pdb.php?prot=ZN729_HUMAN&from=530&to=555&var=K554Q	ENST00000601693		ENSG00000196350	32464		76	1.4		HGNC	p.K554Q		ZNF729		SNV							ENST00000357491	protein_coding	getma.org/?cm=var&var=hg19,19,22497879,A,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/Q		C	low	1778/3877		getma.org/?cm=msa&ty=f&p=ZN729_HUMAN&rb=510&re=575&var=K554Q	tolerated(0.6)	M0QY45_HUMAN			YES	ZNF729,missense_variant,p.Lys554Gln,ENST00000601693,;ZNF729,missense_variant,p.Lys554Gln,ENST00000357491,NM_001242680.1;							MODERATE	1660/3759	K554Q				Transcript		benign(0.042)	.	ENSP00000469582		CCDS59368.1			1	
OR56A1	0	LGGM	GRCh37	11	6048549	6048549	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	23	35	.	.	ENST00000316650.5:c.386G>A	p.Arg129His	p.R129H	ENST00000316650	NM_001001917.2	129	cGt/cAt	0	1	1	UPI000013FE4B	0	getma.org/pdb.php?prot=O56A1_HUMAN&from=1&to=146&var=R129H	ENST00000316650		ENSG00000180934	14781	0.000605	58	3.285		HGNC	p.R129H	rs779071207,COSM3368450	OR56A1	6.06E-05	SNV						0,1	ENST00000316650	protein_coding	getma.org/?cm=var&var=hg19,11,6048549,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF62,Superfamily_domains:SSF81321		R/H		T	medium	423/1071	0.00012	getma.org/?cm=msa&ty=f&p=O56A1_HUMAN&rb=1&re=146&var=R129H	deleterious(0.02)				YES	OR56A1,missense_variant,p.Arg129His,ENST00000316650,NM_001001917.2;					0,1		MODERATE	386/957	R129H	O56A1_HUMAN			Transcript		benign(0.002)	common_variant	ENSP00000321246	0.000132	CCDS31405.1			1	
OR52J3	0	LGGM	GRCh37	11	5068346	5068346	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	31	35	.	.	ENST00000380370.1:c.591T>C	p.Asn197=	p.N197=	ENST00000380370	NM_001001916.2	197	aaT/aaC	0	1	1	UPI0000046AE0	0		ENST00000380370		ENSG00000205495	14799		66			HGNC	p.N197N		OR52J3		SNV							ENST00000380370	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF9,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		N		C		591/936							YES	OR52J3,synonymous_variant,p.=,ENST00000380370,NM_001001916.2;							LOW	591/936		O52J3_HUMAN			Transcript			.	ENSP00000369728		CCDS31370.1			1	
SLC35A3	0	LGGM	GRCh37	1	100464973	100464973	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H070599	H070599N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	17	44	.	.	ENST00000370155.3:c.342+2T>C		p.X114_splice	ENST00000370155	NM_012243.2			0	1	1	UPI0000137AF2	0		ENST00000370155		ENSG00000117620	11023		61			HGNC	-		SLC35A3		SNV			1				ENST00000465289	protein_coding							C		-/2347				E9PPQ9_HUMAN,C9JW63_HUMAN			YES	SLC35A3,splice_donor_variant,,ENST00000465289,NM_001271684.1;SLC35A3,splice_donor_variant,,ENST00000370155,NM_012243.2;SLC35A3,splice_donor_variant,,ENST00000370153,NM_001271685.1;SLC35A3,splice_donor_variant,,ENST00000427993,;SLC35A3,splice_donor_variant,,ENST00000422078,;SLC35A3,downstream_gene_variant,,ENST00000532693,;RNU6-1318P,downstream_gene_variant,,ENST00000365389,;SLC35A3,splice_donor_variant,,ENST00000370156,;SLC35A3,splice_donor_variant,,ENST00000533028,;							HIGH	342/978		S35A3_HUMAN			Transcript			.	ENSP00000359174		CCDS762.1			1	
NCBP1	0	LGGM	GRCh37	9	100431948	100431948	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	100	50	.	.	ENST00000375147.3:c.2219A>G	p.Tyr740Cys	p.Y740C	ENST00000375147	NM_002486.4	740	tAt/tGt	0	1	1	UPI0000112754	0	getma.org/pdb.php?prot=NCBP1_HUMAN&from=485&to=754&var=Y740C	ENST00000375147		ENSG00000136937	7658		150	1.765		HGNC	p.Y93C		NCBP1		SNV							ENST00000375130	protein_coding	getma.org/?cm=var&var=hg19,9,100431948,A,G&fts=all		Gene3D:1.25.40.180,Pfam_domain:PF09090,hmmpanther:PTHR12412,Superfamily_domains:SSF48371		Y/C		G	low	2475/5178		getma.org/?cm=msa&ty=f&p=NCBP1_HUMAN&rb=485&re=754&var=Y740C	deleterious(0)				YES	NCBP1,missense_variant,p.Tyr740Cys,ENST00000375147,NM_002486.4;NCBP1,missense_variant,p.Tyr107Cys,ENST00000375130,;NCBP1,upstream_gene_variant,,ENST00000491445,;							MODERATE	2219/2373	Y740C	NCBP1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000364289		CCDS6728.1			1	
S100A10	0	LGGM	GRCh37	1	151958616	151958616	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	49	51	.	.	ENST00000368811.3:c.91C>A	p.Leu31Met	p.L31M	ENST00000368811	NM_002966.2	31	Ctg/Atg	0	1		UPI0000005BAB	0		ENST00000368809		ENSG00000197747	10487		100			HGNC	p.L31M		S100A10		SNV							ENST00000368809	protein_coding			Gene3D:1.10.238.10,Pfam_domain:PF01023,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF56,Superfamily_domains:SSF47473		L/M		T		168/616			deleterious(0)	D3DV26_HUMAN				S100A10,missense_variant,p.Leu31Met,ENST00000368811,NM_002966.2;S100A10,missense_variant,p.Leu31Met,ENST00000368809,;S100A10,non_coding_transcript_exon_variant,,ENST00000478574,;S100A10,non_coding_transcript_exon_variant,,ENST00000478348,;							MODERATE	91/294		S10AA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357799		CCDS1008.1			1	
OR51A7	0	LGGM	GRCh37	11	4929307	4929307	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	38	51	.	.	ENST00000359350.4:c.708C>T	p.Ala236=	p.A236=	ENST00000359350	NM_001004749.1	236	gcC/gcT	0	1	1	UPI0000041C23	0		ENST00000359350		ENSG00000176895	15188		89			HGNC	p.A236A		OR51A7		SNV							ENST00000359350	protein_coding			Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF114,hmmpanther:PTHR26450,PROSITE_profiles:PS50262		A		T		708/939							YES	OR51A7,synonymous_variant,p.=,ENST00000359350,NM_001004749.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							LOW	708/939		O51A7_HUMAN			Transcript			.	ENSP00000352305		CCDS31364.1			1	
OR5M3	0	LGGM	GRCh37	11	56237402	56237402	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H070599	H070599N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	45	55	.	.	ENST00000312240.2:c.572T>G	p.Phe191Cys	p.F191C	ENST00000312240	NM_001004742.2	191	tTt/tGt	0	1	1	UPI0000041BAA	0	NA	ENST00000312240		ENSG00000174937	14806		100	1.855		HGNC	p.F191C		OR5M3		SNV							ENST00000312240	protein_coding	getma.org/?cm=var&var=hg19,11,56237402,A,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF17,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		F/C		C	low	613/1051		getma.org/?cm=msa&ty=f&p=OR5M3_HUMAN&rb=137&re=281&var=F191C	deleterious(0.01)				YES	OR5M3,missense_variant,p.Phe191Cys,ENST00000312240,NM_001004742.2;							MODERATE	572/924	F191C	OR5M3_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000312208		CCDS31532.1			1	
KRTAP5-6	0	LGGM	GRCh37	11	1718512	1718532	+	inframe_deletion	In_Frame_Del	DEL	GGCTGTGGGGGCTGTGGCTCT	GGCTGTGGGGGCTGTGGCTCT	-	novel	by Submitter	H070599	H070599N.bam	GGCTGTGGGGGCTGTGGCTCT	GGCTGTGGGGGCTGTGGCTCT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	90	55	.	.	ENST00000382160.1:c.54_74delCTCTGGCTGTGGGGGCTGTGG	p.Gly20_Ser26del	p.G20_S26del	ENST00000382160	NM_001012416.1	13	GGCTGTGGGGGCTGTGGCTCT/-	0	1	1	UPI0000376060	0		ENST00000382160		ENSG00000205864	23600		145			HGNC	p.13_19del	rs747687981,COSM1475301	KRTAP5-6		deletion	-:0.0934					0,1	ENST00000382160	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262		GCGGCGS/-	-:0.0328	-		88-108/561							YES	KRTAP5-6,inframe_deletion,p.Gly20_Ser26del,ENST00000382160,NM_001012416.1;					0,1		MODERATE	37-57/390		KRA56_HUMAN			Transcript	17		.	ENSP00000371595		CCDS31332.1			1	
RSF1	0	LGGM	GRCh37	11	77411849	77411849	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H070599	H070599N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	54	55	.	.	ENST00000308488.6:c.2425G>A	p.Glu809Lys	p.E809K	ENST00000308488		809	Gaa/Aaa	0	1	1	UPI00001FB001	0	NA	ENST00000308488		ENSG00000048649	18118		109	0.695		HGNC	p.E809K		RSF1		SNV							ENST00000308488	protein_coding	getma.org/?cm=var&var=hg19,11,77411849,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2		E/K		T	neutral	2728/11550		getma.org/?cm=msa&ty=f&p=RSF1_HUMAN&rb=570&re=883&var=E809K	tolerated(0.09)	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN			YES	RSF1,missense_variant,p.Glu809Lys,ENST00000308488,;RSF1,missense_variant,p.Glu557Lys,ENST00000480887,;RSF1,missense_variant,p.Glu778Lys,ENST00000360355,NM_016578.3;RSF1,missense_variant,p.Glu610Lys,ENST00000526324,;RSF1,missense_variant,p.Glu66Lys,ENST00000532556,;RSF1,downstream_gene_variant,,ENST00000528095,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,upstream_gene_variant,,ENST00000531768,;							MODERATE	2425/4326	E809K	RSF1_HUMAN			Transcript		benign(0.11)	.	ENSP00000311513		CCDS8253.1			1	
AHNAK2	0	LGGM	GRCh37	14	105419471	105419471	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H070599	H070599N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H070599N.bam, H070599T.bam	Illumina HiSeq	130	83	.	.	ENST00000333244.5:c.2317C>T	p.Leu773Phe	p.L773F	ENST00000333244	NM_138420.2	773	Ctc/Ttc	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		213	2.44		HGNC	p.L773F		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105419471,G,A&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37,Low_complexity_(Seg):seg		L/F		A	medium	2437/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=601&re=800&var=L773F					YES	AHNAK2,missense_variant,p.Leu773Phe,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	2317/17388	L773F	AHNK2_HUMAN			Transcript		benign(0.437)	.	ENSP00000353114		CCDS45177.1			1	
PLK4	0	LGGM	GRCh37	4	128802994	128802994	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	14	2	.	.	ENST00000270861.5:c.39A>G	p.Lys13=	p.K13=	ENST00000270861	NM_014264.4	13	aaA/aaG	0	1	1	UPI000007426E	0		ENST00000270861		ENSG00000142731	11397		16			HGNC	p.K13K		PLK4		SNV			1				ENST00000513090	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24345,hmmpanther:PTHR24345:SF50,Superfamily_domains:SSF56112		K		G		313/3841							YES	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;PLK4,5_prime_UTR_variant,,ENST00000514379,NM_001190801.1;PLK4,non_coding_transcript_exon_variant,,ENST00000511942,;PLK4,non_coding_transcript_exon_variant,,ENST00000503914,;							LOW	39/2913		PLK4_HUMAN			Transcript			.	ENSP00000270861		CCDS3735.1			1	
SLC24A4	0	LGGM	GRCh37	14	92790294	92790294	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	3	2	.	.	ENST00000532405.1:c.120C>A	p.Phe40Leu	p.F40L	ENST00000532405		40	ttC/ttA	0	1	1	UPI000044C5DE	0	NA	ENST00000532405		ENSG00000140090	10978		5	-0.695		HGNC	p.F23L		SLC24A4		SNV			1				ENST00000351924	protein_coding	getma.org/?cm=var&var=hg19,14,92790294,C,A&fts=all		hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF21,Transmembrane_helices:TMhelix		F/L		A	neutral	346/4718		getma.org/?cm=msa&ty=f&p=NCKX4_HUMAN&rb=1&re=95&var=F40L	tolerated_low_confidence(1)	G3V505_HUMAN,B4DHR5_HUMAN			YES	SLC24A4,missense_variant,p.Phe40Leu,ENST00000532405,;SLC24A4,missense_variant,p.Phe40Leu,ENST00000531433,NM_153647.3;SLC24A4,missense_variant,p.Phe23Leu,ENST00000298877,NM_153646.3;SLC24A4,missense_variant,p.Phe23Leu,ENST00000351924,;SLC24A4,intron_variant,,ENST00000393265,NM_153648.3;							MODERATE	120/1869	F40L	NCKX4_HUMAN			Transcript		benign(0)	.	ENSP00000431840		CCDS9903.2			1	
VAV2	0	LGGM	GRCh37	9	136640093	136640093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	12	2	.	.	ENST00000371850.3:c.2099G>T	p.Arg700Leu	p.R700L	ENST00000371850	NM_001134398.1	700	cGg/cTg	0	1	1	UPI000013E06E	0	getma.org/pdb.php?prot=VAV2_HUMAN&from=673&to=747&var=R700L	ENST00000371850		ENSG00000160293	12658		14	2.98		HGNC	p.R690L		VAV2		SNV							ENST00000371851	protein_coding	getma.org/?cm=var&var=hg19,9,136640093,C,A&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401		R/L		A	medium	2131/4837		getma.org/?cm=msa&ty=f&p=VAV2_HUMAN&rb=673&re=747&var=R700L	deleterious(0)				YES	VAV2,missense_variant,p.Arg690Leu,ENST00000371851,;VAV2,missense_variant,p.Arg700Leu,ENST00000371850,NM_001134398.1;VAV2,missense_variant,p.Arg690Leu,ENST00000406606,NM_003371.3;							MODERATE	2099/2637	R700L	VAV2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000360916		CCDS48053.1			1	
LGALS3	0	LGGM	GRCh37	14	55607070	55607070	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	6	2	.	.	ENST00000254301.9:c.420C>A	p.Pro140=	p.P140=	ENST00000254301	NM_002306.3	140	ccC/ccA	0	1	1	UPI000004E613	0		ENST00000254301		ENSG00000131981	6563		8			HGNC	p.P140P		LGALS3		SNV							ENST00000254301	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899		P		A		681/1146				Q8IXB9_HUMAN,Q86TY5_HUMAN,G3V407_HUMAN			YES	LGALS3,synonymous_variant,p.=,ENST00000254301,NM_002306.3;LGALS3,synonymous_variant,p.=,ENST00000554715,;LGALS3,downstream_gene_variant,,ENST00000553493,;LGALS3,non_coding_transcript_exon_variant,,ENST00000553755,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556322,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556263,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556438,;							LOW	420/753		LEG3_HUMAN			Transcript			.	ENSP00000254301		CCDS41956.1			1	
TMEM38B	0	LGGM	GRCh37	9	108457044	108457044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	9	2	.	.	ENST00000374692.3:c.103C>A	p.Arg35Ser	p.R35S	ENST00000374692	NM_018112.2	35	Cgt/Agt	0	1	1	UPI0000034FF4	0	NA	ENST00000374692		ENSG00000095209	25535		11	0.345		HGNC	p.R35S	rs755869554	TMEM38B		SNV			1				ENST00000374692	protein_coding	getma.org/?cm=var&var=hg19,9,108457044,C,A&fts=all		hmmpanther:PTHR12454,hmmpanther:PTHR12454:SF5,Pfam_domain:PF05197		R/S		A	neutral	220/3525		getma.org/?cm=msa&ty=f&p=TM38B_HUMAN&rb=33&re=229&var=R35S	tolerated(0.5)				YES	TMEM38B,missense_variant,p.Arg35Ser,ENST00000374692,NM_018112.2;TMEM38B,5_prime_UTR_variant,,ENST00000434214,;	0.000233						MODERATE	103/876	R35S	TM38B_HUMAN			Transcript		benign(0.002)	.	ENSP00000363824	1.65E-05	CCDS6768.1			1	
NF1	0	LGGM	GRCh37	17	29509586	29509586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	27	3	.	.	ENST00000358273.4:c.791C>A	p.Ala264Glu	p.A264E	ENST00000358273	NM_001042492.2	264	gCa/gAa	0	1	1	UPI000012FFAE	0	NA	ENST00000358273		ENSG00000196712	7765		30	2.28		HGNC	p.A298E		NF1		SNV			1				ENST00000579081	protein_coding	getma.org/?cm=var&var=hg19,17,29509586,C,A&fts=all		hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		A/E		A	medium	1174/12425		getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=201&re=400&var=A264E	deleterious(0)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	NF1,missense_variant,p.Ala264Glu,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Ala264Glu,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Ala264Glu,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Ala298Glu,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;NF1,non_coding_transcript_exon_variant,,ENST00000490416,;							MODERATE	791/8520	A264E	NF1_HUMAN			Transcript		benign(0.197)	.	ENSP00000351015		CCDS42292.1			1	
REXO1	0	LGGM	GRCh37	19	1827950	1827950	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	4	3	.	.	ENST00000170168.4:c.838G>T	p.Gly280Cys	p.G280C	ENST00000170168	NM_020695.3	280	Ggc/Tgc	0	1	1	UPI0000202F63	0	NA	ENST00000170168		ENSG00000079313	24616		7	1.95		HGNC	p.G280C		REXO1		SNV							ENST00000170168	protein_coding	getma.org/?cm=var&var=hg19,19,1827950,C,A&fts=all				G/C		A	medium	933/4578		getma.org/?cm=msa&ty=f&p=REXO1_HUMAN&rb=201&re=400&var=G280C	deleterious(0.01)				YES	REXO1,missense_variant,p.Gly280Cys,ENST00000170168,NM_020695.3;CTB-31O20.4,downstream_gene_variant,,ENST00000593201,;CTB-31O20.4,downstream_gene_variant,,ENST00000587741,;CTB-31O20.4,downstream_gene_variant,,ENST00000590531,;REXO1,non_coding_transcript_exon_variant,,ENST00000587524,;CTB-31O20.4,downstream_gene_variant,,ENST00000590823,;							MODERATE	838/3666	G280C	REXO1_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000170168		CCDS32866.1			1	
FKBP15	0	LGGM	GRCh37	9	115933926	115933926	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	41	3	.	.	ENST00000238256.3:c.2593G>T	p.Glu865Ter	p.E865*	ENST00000238256	NM_015258.1	865	Gaa/Taa	0	1	1	UPI000022D996	0	NA	ENST00000238256		ENSG00000119321	23397		44	0		HGNC	p.E865X		FKBP15		SNV							ENST00000238256	protein_coding	getma.org/?cm=var&var=hg19,9,115933926,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF178		E/*		A	NA	2711/4336		NA		B4DZS8_HUMAN			YES	FKBP15,stop_gained,p.Glu890Ter,ENST00000446284,;FKBP15,stop_gained,p.Glu865Ter,ENST00000238256,NM_015258.1;							HIGH	2593/3660	E865*	FKB15_HUMAN			Transcript			.	ENSP00000238256		CCDS48007.1			1	
C1QTNF9	0	LGGM	GRCh37	13	24895524	24895524	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	47	3	.	.	ENST00000382071.2:c.620G>T	p.Gly207Val	p.G207V	ENST00000382071		207	gGg/gTg	0	1		UPI000004F06F	0	getma.org/pdb.php?prot=C1T9A_HUMAN&from=203&to=329&var=G207V	ENST00000332018		ENSG00000240654	28732		50	1.895		HGNC	p.P15T		C1QTNF9		SNV							ENST00000422229	protein_coding	getma.org/?cm=var&var=hg19,13,24895524,G,T&fts=all		Superfamily_domains:SSF49842,SMART_domains:SM00110,Pfam_domain:PF00386,Gene3D:2.60.120.40,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF73,PROSITE_profiles:PS50871		G/V		T	low	681/1830		getma.org/?cm=msa&ty=f&p=C1T9A_HUMAN&rb=203&re=329&var=G207V	deleterious(0)					C1QTNF9,missense_variant,p.Gly207Val,ENST00000382071,;C1QTNF9,missense_variant,p.Gly207Val,ENST00000332018,NM_178540.3;AL359736.1,missense_variant,p.Pro15Thr,ENST00000422229,;C1QTNF9-AS1,intron_variant,,ENST00000449656,;RP11-307N16.6,downstream_gene_variant,,ENST00000382141,;							MODERATE	620/1002	G207V	C1T9A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333737		CCDS9306.1			1	
KRTAP5-4	0	LGGM	GRCh37	11	1643066	1643066	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	41	3	.	.	ENST00000399682.1:c.258T>C	p.Gly86=	p.G86=	ENST00000399682	NM_001012709.1	86	ggT/ggC	0	1	1	UPI0000E592E4	0		ENST00000399682		ENSG00000241598	23599	8.72E-05	44			HGNC	p.G86G	rs773717186,COSM925406	KRTAP5-4	0.000442	SNV				0.000221		0,1	ENST00000399682	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262		G		G		303/1181	0.000172			A8MUN0_HUMAN			YES	KRTAP5-4,synonymous_variant,p.=,ENST00000399682,NM_001012709.1;	0.000118				0,1		LOW	258/687			0.000155		Transcript			common_variant	ENSP00000382590	0.00029				1	
PRR23B	0	LGGM	GRCh37	3	138739257	138739257	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	8	3	.	.	ENST00000329447.5:c.247G>A	p.Ala83Thr	p.A83T	ENST00000329447	NM_001013650.2	83	Gca/Aca	0	1	1	UPI00001C0F1A	0	NA	ENST00000329447		ENSG00000184814	33764		11	1.7		HGNC	p.A83T		PRR23B		SNV							ENST00000329447	protein_coding	getma.org/?cm=var&var=hg19,3,138739257,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF2,Pfam_domain:PF10630		A/T		T	low	512/1896		getma.org/?cm=msa&ty=f&p=PR23B_HUMAN&rb=1&re=262&var=A83T	deleterious(0.03)				YES	PRR23B,missense_variant,p.Ala83Thr,ENST00000329447,NM_001013650.2;MRPS22,intron_variant,,ENST00000495075,;							MODERATE	247/798	A83T	PR23B_HUMAN			Transcript		benign(0.37)	.	ENSP00000328768		CCDS33868.1			1	
SYCN	0	LGGM	GRCh37	19	39694662	39694662	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	4	4	.	.	ENST00000318438.6:c.233C>T	p.Ser78Phe	p.S78F	ENST00000318438	NM_001080468.2	78	tCc/tTc	0	1	1	UPI000022A840	0	NA	ENST00000318438		ENSG00000179751	18442		8	2.095		HGNC	p.S78F		SYCN		SNV							ENST00000318438	protein_coding	getma.org/?cm=var&var=hg19,19,39694662,G,A&fts=all		Gene3D:2.60.20.10,Pfam_domain:PF15138,hmmpanther:PTHR17503,hmmpanther:PTHR17503:SF0		S/F		A	medium	245/573		getma.org/?cm=msa&ty=f&p=SYCN_HUMAN&rb=1&re=132&var=S78F	deleterious(0)				YES	SYCN,missense_variant,p.Ser78Phe,ENST00000318438,NM_001080468.2;NCCRP1,downstream_gene_variant,,ENST00000339852,NM_001001414.1;							MODERATE	233/405	S78F	SYCN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000325564		CCDS46070.1			1	
AIM1L	0	LGGM	GRCh37	1	26658025	26658025	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	36	4	.	.	ENST00000527815.1:c.1647C>T	p.Gly549=	p.G549=	ENST00000527815	NM_001039775.3	549	ggC/ggT	0	1		UPI000006F870	0		ENST00000308182		ENSG00000176092	17295		40			HGNC	p.G549G		AIM1L		SNV							ENST00000527815	protein_coding			PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695		G		A		1564/2390								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,;							LOW	1134/1851		AIM1L_HUMAN			Transcript			.	ENSP00000310435					1	
C5orf30	0	LGGM	GRCh37	5	102611885	102611885	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	46	4	.	.	ENST00000319933.2:c.265C>T	p.Pro89Ser	p.P89S	ENST00000319933	NM_033211.2	89	Cca/Tca	0	1	1	UPI0000070E95	0	NA	ENST00000319933		ENSG00000181751	25052		50	0.805		HGNC	p.P89S	rs370976904	C5orf30		SNV	T:0						ENST00000319933	protein_coding	getma.org/?cm=var&var=hg19,5,102611885,C,T&fts=all		hmmpanther:PTHR31224:SF2,hmmpanther:PTHR31224,Pfam_domain:PF15435		P/S	T:0.0001	T	low	573/3049	0.000105	getma.org/?cm=msa&ty=f&p=CE030_HUMAN&rb=19&re=204&var=P89S	tolerated_low_confidence(0.13)				YES	C5orf30,missense_variant,p.Pro89Ser,ENST00000319933,NM_033211.2;C5orf30,missense_variant,p.Pro89Ser,ENST00000510890,;C5orf30,missense_variant,p.Pro89Ser,ENST00000515669,;							MODERATE	265/621	P89S	CE030_HUMAN			Transcript		benign(0.201)	.	ENSP00000326110	5.77E-05	CCDS4095.1			1	
BRINP2	0	LGGM	GRCh37	1	177199051	177199051	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	25	5	.	.	ENST00000361539.4:c.39G>T	p.Arg13=	p.R13=	ENST00000361539	NM_021165.2	13	cgG/cgT	0	1	1	UPI000006DF55	0		ENST00000361539		ENSG00000198797	13746		30			HGNC	p.R13R		BRINP2		SNV							ENST00000361539	protein_coding			hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5,Cleavage_site_(Signalp):SignalP-TM		R		T		351/3558							YES	BRINP2,synonymous_variant,p.=,ENST00000361539,NM_021165.2;							LOW	39/2352		BRNP2_HUMAN			Transcript			.	ENSP00000354481		CCDS1320.1			1	
OTOP1	0	LGGM	GRCh37	4	4199809	4199809	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	9	5	.	.	ENST00000296358.4:c.752A>T	p.Gln251Leu	p.Q251L	ENST00000296358	NM_177998.1	251	cAg/cTg	0	1	1	UPI0000186945	0	NA	ENST00000296358		ENSG00000163982	19656		14	1.245		HGNC	p.Q251L		OTOP1		SNV							ENST00000296358	protein_coding	getma.org/?cm=var&var=hg19,4,4199809,T,A&fts=all		hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19		Q/L		A	low	777/1864		getma.org/?cm=msa&ty=f&p=OTOP1_HUMAN&rb=242&re=461&var=Q251L	tolerated(0.26)				YES	OTOP1,missense_variant,p.Gln251Leu,ENST00000296358,NM_177998.1;							MODERATE	752/1839	Q251L	OTOP1_HUMAN			Transcript		benign(0.056)	.	ENSP00000296358		CCDS3372.1			1	
ZNF99	0	LGGM	GRCh37	19	22942177	22942177	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	20	5	.	.	ENST00000596209.1:c.534T>C	p.Cys178=	p.C178=	ENST00000596209	NM_001080409.2	178	tgT/tgC	0	1	1	UPI0000426011	0		ENST00000596209		ENSG00000213973	13175		25			HGNC	p.C178C		ZNF99		SNV							ENST00000596209	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF00096,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157,Low_complexity_(Seg):seg		C		G		625/2686				M0R335_HUMAN			YES	ZNF99,synonymous_variant,p.=,ENST00000596209,NM_001080409.2;ZNF99,intron_variant,,ENST00000397104,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							LOW	534/2595					Transcript			.	ENSP00000472969		CCDS59369.1			1	
FMO6P	0	LGGM	GRCh37	1	171130438	171130438	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	74	6	.	.	ENST00000236166.3:c.*235T>A		*79*	ENST00000236166				0	1	1	UPI00033351F0	0		ENST00000236166		ENSG00000117507	24024		80			HGNC	p.V508D		FMO6P		SNV							ENST00000236166	protein_coding							A		1602/1699							YES	FMO6P,3_prime_UTR_variant,,ENST00000236166,;FMO6P,3_prime_UTR_variant,,ENST00000367754,;							MODIFIER	-/1257		FMO6_HUMAN			Transcript			.	ENSP00000236166					1	
DISC1	0	LGGM	GRCh37	1	231830069	231830069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	64	6	.	.	ENST00000366633.3:c.565C>A	p.Pro189Thr	p.P189T	ENST00000366633	NM_001164539.1	189	Cct/Act	0	1		UPI0000458AE0	0	NA	ENST00000439617		ENSG00000162946	2888		70	0.55		HGNC	p.P189T		DISC1		SNV			1				ENST00000439617	protein_coding	getma.org/?cm=var&var=hg19,1,231830069,C,A&fts=all		hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF2,Low_complexity_(Seg):seg		P/T		A	neutral	618/7059		getma.org/?cm=msa&ty=f&p=DISC1_HUMAN&rb=1&re=200&var=P189T	tolerated(0.39)	C4P0C8_HUMAN,B1AM64_HUMAN				DISC1,missense_variant,p.Pro189Thr,ENST00000439617,NM_001164540.1,NM_018662.2,NM_001164537.1;DISC1,missense_variant,p.Pro189Thr,ENST00000535983,NM_001164538.1,NM_001164541.1;DISC1,missense_variant,p.Pro189Thr,ENST00000602281,NM_001164542.1,NM_001164544.1;DISC1,missense_variant,p.Pro189Thr,ENST00000366633,NM_001164539.1;DISC1,missense_variant,p.Pro189Thr,ENST00000539444,NM_001164548.1,NM_001164545.1;DISC1,missense_variant,p.Pro189Thr,ENST00000317586,NM_001012958.1;DISC1,missense_variant,p.Pro189Thr,ENST00000537876,NM_001164547.1,NM_001164546.1;DISC1,missense_variant,p.Pro189Thr,ENST00000366636,NM_001012959.1;DISC1,5_prime_UTR_variant,,ENST00000366637,NM_001012957.1;DISC1,intron_variant,,ENST00000602873,NM_001164556.1;DISC1,downstream_gene_variant,,ENST00000602600,;DISC1,missense_variant,p.Pro189Thr,ENST00000535944,;DISC1,missense_variant,p.Pro189Thr,ENST00000295051,;DISC1,missense_variant,p.Pro189Thr,ENST00000602822,;DISC1,missense_variant,p.Pro189Thr,ENST00000602713,;DISC1,missense_variant,p.Pro189Thr,ENST00000602700,;DISC1,missense_variant,p.Pro189Thr,ENST00000366632,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602962,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602567,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602634,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602956,;TSNAX-DISC1,3_prime_UTR_variant,,ENST00000602885,;DISC1,3_prime_UTR_variant,,ENST00000422590,;DISC1,non_coding_transcript_exon_variant,,ENST00000468399,;							MODERATE	565/2565	P189T				Transcript		benign(0.142)	.	ENSP00000403888					1	
C1orf68	0	LGGM	GRCh37	1	152692285	152692285	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	219	7	.	.	ENST00000368775.2:c.288G>A	p.Gln96=	p.Q96=	ENST00000368775	NM_001024679.2	96	caG/caA	0	1	1	UPI00001C1D9F	0		ENST00000368775		ENSG00000198854	29468		226			HGNC	p.Q96Q		C1orf68		SNV							ENST00000362017	protein_coding			hmmpanther:PTHR23263:SF4,hmmpanther:PTHR23263,Prints_domain:PR00021		Q		A		288/908							YES	C1orf68,synonymous_variant,p.=,ENST00000368775,NM_001024679.2;							LOW	288/753		XP32_HUMAN			Transcript			.	ENSP00000357764		CCDS44226.1			1	
FMN1	0	LGGM	GRCh37	15	33191048	33191048	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	71	7	.	.	ENST00000334528.9:c.3032G>A	p.Arg1011His	p.R1011H	ENST00000334528	NM_001103184.3	1011	cGt/cAt	0	1		UPI0001AE68B4	0	getma.org/pdb.php?prot=FMN1_HUMAN&from=972&to=1363&var=R1234H	ENST00000559047		ENSG00000248905	3768		78	1.405		HGNC	p.R1136H	rs374634863	FMN1	6.10E-05	SNV	T:0.0003						ENST00000561249	protein_coding	getma.org/?cm=var&var=hg19,15,33191048,C,T&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		R/H	T:0	T	low	3701/4260	4.50E-05	getma.org/?cm=msa&ty=f&p=FMN1_HUMAN&rb=972&re=1363&var=R1234H						FMN1,missense_variant,p.Arg1011His,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Arg1234His,ENST00000559047,NM_001277313.1;FMN1,missense_variant,p.Arg1136His,ENST00000561249,;FMN1,downstream_gene_variant,,ENST00000560317,;FMN1,downstream_gene_variant,,ENST00000558711,;snoU13,downstream_gene_variant,,ENST00000459314,;	0.000116						MODERATE	3701/4260	R1234H	FMN1_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000454047	4.14E-05	CCDS61581.1			1	
NEURL4	0	LGGM	GRCh37	17	7219574	7219574	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	5	7	.	.	ENST00000399464.2:c.4557C>T	p.Ser1519=	p.S1519=	ENST00000399464	NM_032442.2	1519	tcC/tcT	0	1	1	UPI000020081C	0		ENST00000399464		ENSG00000215041	34410		12			HGNC	p.S1519S	rs765015821	NEURL4		SNV							ENST00000399464	protein_coding			hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF2		S		A		4573/5200							YES	NEURL4,synonymous_variant,p.=,ENST00000399464,NM_032442.2;NEURL4,synonymous_variant,p.=,ENST00000315614,NM_001005408.1;NEURL4,synonymous_variant,p.=,ENST00000570460,;NEURL4,downstream_gene_variant,,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,;EIF5A,downstream_gene_variant,,ENST00000573542,;GPS2,upstream_gene_variant,,ENST00000577040,;EIF5A,downstream_gene_variant,,ENST00000572815,;EIF5A,downstream_gene_variant,,ENST00000573714,;GPS2,upstream_gene_variant,,ENST00000573684,;GPS2,upstream_gene_variant,,ENST00000574458,;NEURL4,downstream_gene_variant,,ENST00000574120,;NEURL4,3_prime_UTR_variant,,ENST00000573186,;NEURL4,non_coding_transcript_exon_variant,,ENST00000572680,;RP11-542C16.2,intron_variant,,ENST00000575474,;RP11-542C16.2,intron_variant,,ENST00000315601,;GPS2,upstream_gene_variant,,ENST00000571697,;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,;NEURL4,downstream_gene_variant,,ENST00000576794,;GPS2,upstream_gene_variant,,ENST00000573059,;GPS2,upstream_gene_variant,,ENST00000573807,;NEURL4,downstream_gene_variant,,ENST00000572029,;GPS2,upstream_gene_variant,,ENST00000571695,;GPS2,upstream_gene_variant,,ENST00000574201,;							LOW	4557/4689		NEUL4_HUMAN			Transcript			.	ENSP00000382390		CCDS42251.1			1	
TMEM165	0	LGGM	GRCh37	4	56290782	56290782	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	21	7	.	.	ENST00000381334.5:c.870G>C	p.Met290Ile	p.M290I	ENST00000381334	NM_018475.4	290	atG/atC	0	1	1	UPI0000035F63	0	NA	ENST00000381334		ENSG00000134851	30760		28	0.775		HGNC	p.M95I		TMEM165		SNV			1				ENST00000506198	protein_coding	getma.org/?cm=var&var=hg19,4,56290782,G,C&fts=all		Pfam_domain:PF01169,hmmpanther:PTHR12608		M/I		C	neutral	1103/1928		getma.org/?cm=msa&ty=f&p=TM165_HUMAN&rb=237&re=312&var=M290I	tolerated(0.19)				YES	TMEM165,missense_variant,p.Met290Ile,ENST00000381334,NM_018475.4;TMEM165,missense_variant,p.Met227Ile,ENST00000542052,;TMEM165,missense_variant,p.Met127Ile,ENST00000608091,;TMEM165,missense_variant,p.Met95Ile,ENST00000506198,;CLOCK,downstream_gene_variant,,ENST00000309964,NM_004898.3;TMEM165,non_coding_transcript_exon_variant,,ENST00000514904,;TMEM165,non_coding_transcript_exon_variant,,ENST00000508561,;TMEM165,3_prime_UTR_variant,,ENST00000508404,;TMEM165,3_prime_UTR_variant,,ENST00000506103,;TMEM165,non_coding_transcript_exon_variant,,ENST00000515591,;TMEM165,non_coding_transcript_exon_variant,,ENST00000509575,;							MODERATE	870/975	M290I	TM165_HUMAN			Transcript		benign(0.086)	.	ENSP00000370736		CCDS3499.1			1	
SURF6	0	LGGM	GRCh37	9	136199124	136199124	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	6	7	.	.	ENST00000372022.4:c.667A>G	p.Arg223Gly	p.R223G	ENST00000372022	NM_006753.5	223	Agg/Ggg	0	1	1	UPI000013623E	0	NA	ENST00000372022		ENSG00000148296	11478		13	0.695		HGNC	p.R223G		SURF6		SNV							ENST00000372022	protein_coding	getma.org/?cm=var&var=hg19,9,136199124,T,C&fts=all		hmmpanther:PTHR14369:SF0,hmmpanther:PTHR14369,Pfam_domain:PF04935		R/G		C	neutral	933/2505		getma.org/?cm=msa&ty=f&p=SURF6_HUMAN&rb=135&re=351&var=R223G	tolerated(0.2)				YES	SURF6,missense_variant,p.Arg223Gly,ENST00000372022,NM_006753.5,NM_001278942.1;SURF6,non_coding_transcript_exon_variant,,ENST00000468290,;							MODERATE	667/1086	R223G	SURF6_HUMAN			Transcript		benign(0.154)	.	ENSP00000361092		CCDS6962.1			1	
IFT88	0	LGGM	GRCh37	13	21217734	21217734	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	26	7	.	.	ENST00000319980.6:c.1850A>G	p.Tyr617Cys	p.Y617C	ENST00000319980	NM_175605.3	617	tAt/tGt	0	1	1	UPI0000160108	0	NA	ENST00000319980		ENSG00000032742	20606		33	1.56		HGNC	p.Y608C		IFT88		SNV							ENST00000351808	protein_coding	getma.org/?cm=var&var=hg19,13,21217734,A,G&fts=all		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23083:SF6,hmmpanther:PTHR23083,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,SMART_domains:SM00671,Superfamily_domains:SSF48452		Y/C		G	low	2177/3018		getma.org/?cm=msa&ty=f&p=IFT88_HUMAN&rb=595&re=628&var=Y617C	tolerated(0.1)	F6SRW8_HUMAN			YES	IFT88,missense_variant,p.Tyr617Cys,ENST00000382778,;IFT88,missense_variant,p.Tyr617Cys,ENST00000319980,NM_175605.3;IFT88,missense_variant,p.Tyr608Cys,ENST00000351808,NM_006531.3;IFT88,missense_variant,p.Tyr589Cys,ENST00000537103,;IFT88,intron_variant,,ENST00000482172,;IFT88,downstream_gene_variant,,ENST00000460931,;							MODERATE	1850/2502	Y617C	IFT88_HUMAN			Transcript		benign(0.027)	.	ENSP00000323580		CCDS31944.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	27	15	.	.	ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32Y	ENST00000349496	pathogenic	ENSG00000168036	2514		42	2.46		HGNC	p.D32Y	rs28931588,COSM5661	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/Y		T	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32Y	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Tyr,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32Y	CTNB1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000344456		CCDS2694.1			1	19635198
RGPD4	0	LGGM	GRCh37	2	108496564	108496564	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	250	8	.	.	ENST00000408999.3:c.5064+1G>A		p.X1688_splice	ENST00000408999	NM_182588.2			0	1	1	UPI0000418FF7	0		ENST00000408999		ENSG00000196862	32417	0.000691	258			HGNC	-	rs543163445	RGPD4		SNV							ENST00000354986	protein_coding		A:0					A		-/5464	1.50E-05			I1Z9D1_HUMAN	A:0.0014	A:0	YES	RGPD4,splice_donor_variant,,ENST00000408999,NM_182588.2;RGPD4,splice_donor_variant,,ENST00000354986,;		A:0.0002					HIGH	5064/5277		RGPD4_HUMAN		A:0	Transcript			common_variant	ENSP00000386810	8.24E-05	CCDS46381.1	0.0011	A:0	1	
IRX2	0	LGGM	GRCh37	5	2749514	2749514	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	9	8	.	.	ENST00000382611.6:c.637A>T	p.Thr213Ser	p.T213S	ENST00000382611	NM_001134222.1	213	Acc/Tcc	0	1		UPI00001B6456	0	NA	ENST00000302057		ENSG00000170561	14359		17	1.845		HGNC	p.T213S		IRX2		SNV							ENST00000302057	protein_coding	getma.org/?cm=var&var=hg19,5,2749514,T,A&fts=all		hmmpanther:PTHR11211,hmmpanther:PTHR11211:SF15		T/S		A	low	879/2456		getma.org/?cm=msa&ty=f&p=IRX2_HUMAN&rb=172&re=371&var=T213S	tolerated(0.29)					IRX2,missense_variant,p.Thr213Ser,ENST00000382611,NM_001134222.1;IRX2,missense_variant,p.Thr213Ser,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,;							MODERATE	637/1416	T213S	IRX2_HUMAN			Transcript		benign(0.192)	.	ENSP00000307006		CCDS3868.1			1	
ZNF496	0	LGGM	GRCh37	1	247463836	247463836	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	16	8	.	.	ENST00000294753.4:c.1749T>A	p.Ala583=	p.A583=	ENST00000294753	NM_032752.1	583	gcT/gcA	0	1	1	UPI000007025B	0		ENST00000294753		ENSG00000162714	23713		24			HGNC	p.A619A		ZNF496		SNV							ENST00000366498	protein_coding					A		T		2214/5336							YES	ZNF496,synonymous_variant,p.=,ENST00000294753,NM_032752.1;ZNF496,synonymous_variant,p.=,ENST00000461277,;ZNF496,synonymous_variant,p.=,ENST00000366498,;ZNF496,non_coding_transcript_exon_variant,,ENST00000462139,;							LOW	1749/1764		ZN496_HUMAN			Transcript			.	ENSP00000294753		CCDS1631.1			1	
COL21A1	0	LGGM	GRCh37	6	55922557	55922557	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	52	8	.	.	ENST00000244728.5:c.2772T>A	p.Pro924=	p.P924=	ENST00000244728	NM_030820.3	924	ccT/ccA	0	1	1	UPI0000071DFE	0		ENST00000244728		ENSG00000124749	17025		60			HGNC	p.P290P		COL21A1		SNV							ENST00000370808	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg		P		T		3170/4339				A6PVD9_HUMAN			YES	COL21A1,synonymous_variant,p.=,ENST00000244728,NM_030820.3;COL21A1,synonymous_variant,p.=,ENST00000535941,;COL21A1,synonymous_variant,p.=,ENST00000370819,;COL21A1,synonymous_variant,p.=,ENST00000370808,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,downstream_gene_variant,,ENST00000467216,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000482933,;							LOW	2772/2874		COLA1_HUMAN			Transcript			.	ENSP00000244728		CCDS55025.1			1	
MFI2	0	LGGM	GRCh37	3	196753575	196753575	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	30	9	.	.	ENST00000296350.5:c.260A>T	p.Lys87Met	p.K87M	ENST00000296350	NM_005929.5	87	aAg/aTg	0	1	1	UPI000013E329	0	getma.org/pdb.php?prot=TRFM_HUMAN&from=23&to=357&var=K87M	ENST00000296350		ENSG00000163975	7037		39	2.23		HGNC	p.K87M		MFI2		SNV							ENST00000439320	protein_coding	getma.org/?cm=var&var=hg19,3,196753575,T,A&fts=all		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		K/M		A	medium	374/3963		getma.org/?cm=msa&ty=f&p=TRFM_HUMAN&rb=23&re=357&var=K87M	deleterious(0.04)				YES	MFI2,missense_variant,p.Lys87Met,ENST00000296350,NM_005929.5;MFI2,missense_variant,p.Lys87Met,ENST00000296351,NM_033316.3;MFI2,missense_variant,p.Lys87Met,ENST00000439320,;MFI2,non_coding_transcript_exon_variant,,ENST00000473501,;MFI2,non_coding_transcript_exon_variant,,ENST00000491399,;MFI2,upstream_gene_variant,,ENST00000489445,;							MODERATE	260/2217	K87M	TRFM_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000296350		CCDS3325.1			1	
COL24A1	0	LGGM	GRCh37	1	86591228	86591228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	37	9	.	.	ENST00000370571.2:c.791T>C	p.Ile264Thr	p.I264T	ENST00000370571	NM_152890.5	264	aTa/aCa	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		46	0.55		HGNC	p.I264T		COL24A1		SNV							ENST00000370571	protein_coding	getma.org/?cm=var&var=hg19,1,86591228,A,G&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		I/T		G	neutral	1158/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=225&re=270&var=I264T	tolerated(0.75)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Ile264Thr,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Ile264Thr,ENST00000436319,;COL24A1,downstream_gene_variant,,ENST00000496682,;COL24A1,missense_variant,p.Ile264Thr,ENST00000426639,;							MODERATE	791/5145	I264T	COOA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000359603		CCDS41353.1			1	
CNKSR3	0	LGGM	GRCh37	6	154762509	154762509	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	19	10	.	.	ENST00000607772.1:c.424C>G	p.Pro142Ala	p.P142A	ENST00000607772	NM_173515.2	142	Ccg/Gcg	0	1	1	UPI000020D0EA	0	NA	ENST00000607772		ENSG00000153721	23034		29	2.135		HGNC	p.P62A		CNKSR3		SNV							ENST00000479339	protein_coding	getma.org/?cm=var&var=hg19,6,154762509,G,C&fts=all		PROSITE_profiles:PS51290,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19,Pfam_domain:PF10534		P/A		C	medium	969/21063		getma.org/?cm=msa&ty=f&p=CNKR3_HUMAN&rb=80&re=174&var=P142A	deleterious(0.01)	C9JN62_HUMAN,C9IZX4_HUMAN			YES	CNKSR3,missense_variant,p.Pro142Ala,ENST00000607772,NM_173515.2;CNKSR3,missense_variant,p.Pro62Ala,ENST00000479339,;							MODERATE	424/1668	P142A	CNKR3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000475915		CCDS5246.1			1	
KRT80	0	LGGM	GRCh37	12	52567421	52567421	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	27	10	.	.	ENST00000394815.2:c.794G>A	p.Arg265His	p.R265H	ENST00000394815	NM_182507.2	265	cGc/cAc	0	1	1	UPI0000160118	0	NA	ENST00000394815		ENSG00000167767	27056		37	1.945		HGNC	p.R265H		KRT80		SNV							ENST00000313234	protein_coding	getma.org/?cm=var&var=hg19,12,52567421,C,T&fts=all		hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239,Pfam_domain:PF00038		R/H		T	medium	892/3859		getma.org/?cm=msa&ty=f&p=K2C80_HUMAN&rb=82&re=393&var=R265H	deleterious(0.02)				YES	KRT80,missense_variant,p.Arg265His,ENST00000313234,NM_001081492.1;KRT80,missense_variant,p.Arg265His,ENST00000394815,NM_182507.2;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;							MODERATE	794/1359	R265H	K2C80_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000378292		CCDS8821.2			1	
ANTXR1	0	LGGM	GRCh37	2	69420475	69420475	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	46	11	.	.	ENST00000303714.4:c.1362C>G	p.Leu454=	p.L454=	ENST00000303714	NM_032208.2	454	ctC/ctG	0	1	1	UPI0000049806	0		ENST00000303714		ENSG00000169604	21014		57			HGNC	p.L454L		ANTXR1		SNV			1				ENST00000303714	protein_coding			hmmpanther:PTHR16059:SF11,hmmpanther:PTHR16059,Pfam_domain:PF05586,PIRSF_domain:PIRSF038023		L		G		1684/5859							YES	ANTXR1,synonymous_variant,p.=,ENST00000303714,NM_032208.2;							LOW	1362/1695		ANTR1_HUMAN			Transcript			.	ENSP00000301945		CCDS1892.1			1	
H1F0	0	LGGM	GRCh37	22	38202094	38202094	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	50	11	.	.	ENST00000340857.2:c.543C>T	p.Pro181=	p.P181=	ENST00000340857	NM_005318.3	181	ccC/ccT	0	1	1	UPI0000161F7B	0		ENST00000340857		ENSG00000189060	4714		61			HGNC	p.P181P		H1F0		SNV							ENST00000340857	protein_coding			Low_complexity_(Seg):seg,Prints_domain:PR00624,hmmpanther:PTHR11467:SF10,hmmpanther:PTHR11467		P		T		981/2329							YES	H1F0,synonymous_variant,p.=,ENST00000340857,NM_005318.3;GCAT,upstream_gene_variant,,ENST00000323205,NM_001171690.1;GCAT,upstream_gene_variant,,ENST00000248924,NM_014291.3;GCAT,upstream_gene_variant,,ENST00000451984,;GCAT,upstream_gene_variant,,ENST00000445195,;GCAT,upstream_gene_variant,,ENST00000415371,;GCAT,upstream_gene_variant,,ENST00000426858,;GCAT,upstream_gene_variant,,ENST00000478203,;							LOW	543/585		H10_HUMAN			Transcript			.	ENSP00000344504		CCDS13956.1			1	
IMPG2	0	LGGM	GRCh37	3	100963623	100963623	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	32	11	.	.	ENST00000193391.7:c.1552A>T	p.Asn518Tyr	p.N518Y	ENST00000193391	NM_016247.3	518	Aat/Tat	0	1	1	UPI000013C605	0	NA	ENST00000193391		ENSG00000081148	18362		43	0.55		HGNC	p.N518Y		IMPG2		SNV			1				ENST00000193391	protein_coding	getma.org/?cm=var&var=hg19,3,100963623,T,A&fts=all		hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199		N/Y		A	neutral	1740/8337		getma.org/?cm=msa&ty=f&p=IMPG2_HUMAN&rb=366&re=893&var=N518Y	tolerated(0.06)	F1T0J3_HUMAN			YES	IMPG2,missense_variant,p.Asn518Tyr,ENST00000193391,NM_016247.3;							MODERATE	1552/3726	N518Y	IMPG2_HUMAN			Transcript		benign(0.081)	.	ENSP00000193391		CCDS2940.1			1	
COL28A1	0	LGGM	GRCh37	7	7400135	7400135	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	12	11	.	.	ENST00000399429.3:c.3091G>A	p.Glu1031Lys	p.E1031K	ENST00000399429	NM_001037763.2	1031	Gaa/Aaa	0	1	1	UPI000155D64E	0	NA	ENST00000399429		ENSG00000215018	22442		23	0		HGNC	p.E1031K		COL28A1		SNV							ENST00000399429	protein_coding	getma.org/?cm=var&var=hg19,7,7400135,C,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375		E/K		T	neutral	3232/4277		getma.org/?cm=msa&ty=f&p=COSA1_HUMAN&rb=989&re=1047&var=E1031K	tolerated(0.81)	H7C3P2_HUMAN,H7BZU0_HUMAN			YES	COL28A1,missense_variant,p.Glu1031Lys,ENST00000399429,NM_001037763.2;COL28A1,upstream_gene_variant,,ENST00000453441,;COL28A1,missense_variant,p.Glu48Lys,ENST00000430711,;							MODERATE	3091/3378	E1031K	COSA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000382356		CCDS43553.1			1	
MANF	0	LGGM	GRCh37	3	51426468	51426468	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	58	11	.	.	ENST00000528157.1:c.497A>T	p.Glu166Val	p.E166V	ENST00000528157	NM_006010.4	166	gAa/gTa	0	1	1	UPI0000169E96	0	getma.org/pdb.php?prot=MANF_HUMAN&from=29&to=182&var=E166V	ENST00000528157		ENSG00000145050	15461		69	2.485		HGNC	p.E166V		MANF		SNV			1				ENST00000528157	protein_coding	getma.org/?cm=var&var=hg19,3,51426468,A,T&fts=all		Pfam_domain:PF10208,hmmpanther:PTHR12990,hmmpanther:PTHR12990:SF7,Superfamily_domains:SSF68906		E/V		T	medium	793/1153		getma.org/?cm=msa&ty=f&p=MANF_HUMAN&rb=29&re=182&var=E166V	deleterious(0.02)	A8K878_HUMAN			YES	MANF,missense_variant,p.Glu166Val,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,;							MODERATE	497/549	E166V	MANF_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000432799		CCDS46836.2			1	
TF	0	LGGM	GRCh37	3	133494275	133494275	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	28	12	.	.	ENST00000402696.3:c.1688-2A>T		p.X563_splice	ENST00000402696	NM_001063.3			0	1	1	UPI000013D5A6	0		ENST00000402696		ENSG00000091513	11740		40			HGNC	-		TF		SNV			1				ENST00000402696	protein_coding							T		-/2968				J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,splice_acceptor_variant,,ENST00000402696,NM_001063.3;TF,splice_acceptor_variant,,ENST00000264998,;TF,splice_acceptor_variant,,ENST00000461695,;TF,non_coding_transcript_exon_variant,,ENST00000467842,;TF,downstream_gene_variant,,ENST00000462495,;							HIGH	1688/2097		TRFE_HUMAN			Transcript			.	ENSP00000385834		CCDS3080.1			1	
TAS2R20	0	LGGM	GRCh37	12	11149758	11149758	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	42	12	.	.	ENST00000538986.1:c.717C>T	p.Ala239=	p.A239=	ENST00000538986	NM_176889.2	239	gcC/gcT	0	1	1	UPI000000D822	0		ENST00000538986		ENSG00000255837	19109		54			HGNC	p.A239A		TAS2R20		SNV							ENST00000538986	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF35,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		A		717/1381				Q50KF4_HUMAN			YES	TAS2R20,synonymous_variant,p.=,ENST00000538986,NM_176889.2;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRR4,intron_variant,,ENST00000541977,;							LOW	717/930		T2R20_HUMAN			Transcript			.	ENSP00000441624		CCDS8639.1			1	
CRB1	0	LGGM	GRCh37	1	197403992	197403992	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	82	13	.	.	ENST00000367400.3:c.2999A>T	p.Asn1000Ile	p.N1000I	ENST00000367400	NM_201253.2	1000	aAt/aTt	0	1	1	UPI0000073345	0	getma.org/pdb.php?prot=CRUM1_HUMAN&from=980&to=1105&var=N1000I	ENST00000367400		ENSG00000134376	2343		95	0.345		HGNC	p.N1000I		CRB1		SNV			1				ENST00000484075	protein_coding	getma.org/?cm=var&var=hg19,1,197403992,A,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24049,SMART_domains:SM00282,Superfamily_domains:SSF49899		N/I		T	neutral	3134/4932		getma.org/?cm=msa&ty=f&p=CRUM1_HUMAN&rb=980&re=1105&var=N1000I	tolerated(0.15)	B7Z824_HUMAN			YES	CRB1,missense_variant,p.Asn381Ile,ENST00000367397,;CRB1,missense_variant,p.Asn1000Ile,ENST00000367400,NM_201253.2;CRB1,missense_variant,p.Asn976Ile,ENST00000535699,NM_001257965.1;CRB1,missense_variant,p.Asn888Ile,ENST00000367399,NM_001193640.1;CRB1,missense_variant,p.Asn481Ile,ENST00000544212,;CRB1,intron_variant,,ENST00000538660,NM_001257966.1;RP11-75C23.1,downstream_gene_variant,,ENST00000422250,;CRB1,missense_variant,p.Asn1000Ile,ENST00000484075,;							MODERATE	2999/4221	N1000I	CRUM1_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000356370		CCDS1390.1			1	
ZNF660	0	LGGM	GRCh37	3	44636094	44636094	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	35	13	.	.	ENST00000322734.2:c.409A>T	p.Lys137Ter	p.K137*	ENST00000322734	NM_173658.2	137	Aaa/Taa	0	1	1	UPI0000140EF2	0	NA	ENST00000322734		ENSG00000144792	26720		48	0		HGNC	p.K137X		ZNF660		SNV							ENST00000322734	protein_coding	getma.org/?cm=var&var=hg19,3,44636094,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF203,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/*		T	NA	742/5834		NA		C9J3N9_HUMAN,C9J3D4_HUMAN			YES	ZNF660,stop_gained,p.Lys137Ter,ENST00000322734,NM_173658.2;ZNF197,intron_variant,,ENST00000412641,;ZNF660,downstream_gene_variant,,ENST00000441021,;RP11-944L7.5,downstream_gene_variant,,ENST00000419137,;ZNF660,downstream_gene_variant,,ENST00000416644,;RP11-944L7.4,intron_variant,,ENST00000457331,;							HIGH	409/996	K137*	ZN660_HUMAN			Transcript			.	ENSP00000324605		CCDS2716.1			1	
PCDH1	0	LGGM	GRCh37	5	141243518	141243518	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	14	13	.	.	ENST00000287008.3:c.2378A>G	p.Lys793Arg	p.K793R	ENST00000287008	NM_032420.3	793	aAg/aGg	0	1		UPI0000074735	0	getma.org/pdb.php?prot=PCDH1_HUMAN&from=727&to=813&var=K793R	ENST00000394536		ENSG00000156453	8655		27	-0.175		HGNC	p.K793R		PCDH1		SNV							ENST00000287008	protein_coding	getma.org/?cm=var&var=hg19,5,141243518,T,C&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		K/R		C	neutral	2518/3819		getma.org/?cm=msa&ty=f&p=PCDH1_HUMAN&rb=727&re=813&var=K793R	tolerated(0.5)	F5H3L5_HUMAN,D6RBG2_HUMAN				PCDH1,missense_variant,p.Lys793Arg,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Lys793Arg,ENST00000394536,NM_002587.4,NM_001278615.1;PCDH1,missense_variant,p.Lys781Arg,ENST00000456271,;PCDH1,missense_variant,p.Lys771Arg,ENST00000536585,NM_001278613.1;PCDH1,missense_variant,p.Lys804Arg,ENST00000357517,;PCDH1,intron_variant,,ENST00000503492,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,downstream_gene_variant,,ENST00000505937,;							MODERATE	2378/3183	K793R	PCDH1_HUMAN			Transcript		benign(0.02)	.	ENSP00000378043		CCDS43375.1			1	
ZNF540	0	LGGM	GRCh37	19	38103533	38103533	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	22	13	.	.	ENST00000592533.1:c.1352G>A	p.Arg451His	p.R451H	ENST00000592533	NM_152606.4	451	cGt/cAt	0	1		UPI00000732BB	0	getma.org/pdb.php?prot=ZN540_HUMAN&from=449&to=452&var=R451H	ENST00000316433		ENSG00000171817	25331		35	1.45		HGNC	p.R451H	rs749623515	ZNF540	6.06E-05	SNV							ENST00000343599	protein_coding	getma.org/?cm=var&var=hg19,19,38103533,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF138,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/H		A	low	1634/3099	4.50E-05	getma.org/?cm=msa&ty=f&p=ZN540_HUMAN&rb=419&re=482&var=R451H	tolerated(0.64)	K7EK80_HUMAN				ZNF540,missense_variant,p.Arg451His,ENST00000592533,NM_152606.4;ZNF540,missense_variant,p.Arg451His,ENST00000316433,NM_001172225.2;ZNF540,missense_variant,p.Arg451His,ENST00000343599,;ZNF540,missense_variant,p.Arg419His,ENST00000589117,NM_001172226.2;ZNF540,missense_variant,p.Arg451His,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,;							MODERATE	1352/1983	R451H	ZN540_HUMAN			Transcript		benign(0.008)	.	ENSP00000324598	3.29E-05	CCDS12506.1			1	
MYO15A	0	LGGM	GRCh37	17	18043958	18043958	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	43	13	.	.	ENST00000205890.5:c.5339A>T	p.Asp1780Val	p.D1780V	ENST00000205890	NM_016239.3	1780	gAt/gTt	0	1	1	UPI0000E59E6E	0	getma.org/pdb.php?prot=MYO15_HUMAN&from=1224&to=1887&var=D1780V	ENST00000205890		ENSG00000091536	7594		56	1.24		HGNC	p.D1780V		MYO15A		SNV			1				ENST00000205890	protein_coding	getma.org/?cm=var&var=hg19,17,18043958,A,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF351,SMART_domains:SM00242,Superfamily_domains:SSF52540		D/V		T	low	5677/11863		getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=1224&re=1887&var=D1780V		K7EQV1_HUMAN,G3V4G3_HUMAN			YES	MYO15A,missense_variant,p.Asp1780Val,ENST00000205890,NM_016239.3;MYO15A,non_coding_transcript_exon_variant,,ENST00000412324,;							MODERATE	5339/10593	D1780V	MYO15_HUMAN			Transcript		unknown(0)	.	ENSP00000205890		CCDS42271.1			1	
ASTE1	0	LGGM	GRCh37	3	130737386	130737386	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	39	13	.	.	ENST00000264992.3:c.1477C>T	p.Leu493=	p.L493=	ENST00000264992	NM_014065.2	493	Cta/Tta	0	1	1	UPI00001B6B0B	0		ENST00000264992		ENSG00000034533	25021		52			HGNC	p.L493L		ASTE1		SNV							ENST00000264992	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15665		L		A		1919/2664				D6RJF1_HUMAN,D6R9W5_HUMAN			YES	ASTE1,synonymous_variant,p.=,ENST00000264992,NM_014065.2;ASTE1,synonymous_variant,p.=,ENST00000514044,;ASTE1,synonymous_variant,p.=,ENST00000505290,;ATP2C1,downstream_gene_variant,,ENST00000507488,NM_001199180.1;ATP2C1,downstream_gene_variant,,ENST00000504381,NM_001199182.1;ATP2C1,downstream_gene_variant,,ENST00000328560,NM_001199185.1,NM_001001485.2;ATP2C1,downstream_gene_variant,,ENST00000393221,;ATP2C1,downstream_gene_variant,,ENST00000513801,NM_001199183.1;ATP2C1,downstream_gene_variant,,ENST00000359644,NM_001001486.1;ATP2C1,downstream_gene_variant,,ENST00000422190,NM_001001487.1;ATP2C1,downstream_gene_variant,,ENST00000533801,;ATP2C1,downstream_gene_variant,,ENST00000504612,;ASTE1,synonymous_variant,p.=,ENST00000507978,;ASTE1,3_prime_UTR_variant,,ENST00000504964,;							LOW	1477/2040		ASTE1_HUMAN			Transcript			.	ENSP00000264992		CCDS3068.1			1	
PLEKHH2	0	LGGM	GRCh37	2	43931190	43931190	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	31	13	.	.	ENST00000282406.4:c.1721A>T	p.Asn574Ile	p.N574I	ENST00000282406	NM_172069.3	574	aAt/aTt	0	1	1	UPI000016021B	0	NA	ENST00000282406		ENSG00000152527	30506		44	0.895		HGNC	p.N574I		PLEKHH2		SNV							ENST00000282406	protein_coding	getma.org/?cm=var&var=hg19,2,43931190,A,T&fts=all		hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3		N/I		T	low	1831/6981		getma.org/?cm=msa&ty=f&p=PKHH2_HUMAN&rb=1&re=700&var=N574I	tolerated(0.16)				YES	PLEKHH2,missense_variant,p.Asn574Ile,ENST00000282406,NM_172069.3;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;							MODERATE	1721/4482	N574I	PKHH2_HUMAN			Transcript		benign(0)	.	ENSP00000282406		CCDS1812.1			1	
ZNF660	0	LGGM	GRCh37	3	44636093	44636093	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	34	14	.	.	ENST00000322734.2:c.408T>G	p.Cys136Trp	p.C136W	ENST00000322734	NM_173658.2	136	tgT/tgG	0	1	1	UPI0000140EF2	0	getma.org/pdb.php?prot=ZN660_HUMAN&from=120&to=145&var=C136W	ENST00000322734		ENSG00000144792	26720		48	4.185		HGNC	p.C136W		ZNF660		SNV							ENST00000322734	protein_coding	getma.org/?cm=var&var=hg19,3,44636093,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF203,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/W		G	high	741/5834		getma.org/?cm=msa&ty=f&p=ZN660_HUMAN&rb=100&re=165&var=C136W	deleterious(0)	C9J3N9_HUMAN,C9J3D4_HUMAN			YES	ZNF660,missense_variant,p.Cys136Trp,ENST00000322734,NM_173658.2;ZNF197,intron_variant,,ENST00000412641,;ZNF660,downstream_gene_variant,,ENST00000441021,;RP11-944L7.5,downstream_gene_variant,,ENST00000419137,;ZNF660,downstream_gene_variant,,ENST00000416644,;RP11-944L7.4,intron_variant,,ENST00000457331,;							MODERATE	408/996	C136W	ZN660_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000324605		CCDS2716.1			1	
TIAM1	0	LGGM	GRCh37	21	32575328	32575328	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	53	14	.	.	ENST00000286827.3:c.2389A>T	p.Thr797Ser	p.T797S	ENST00000286827	NM_003253.2	797	Aca/Tca	0	1	1	UPI000013DE6F	0	NA	ENST00000286827		ENSG00000156299	11805		67	0.345		HGNC	p.T797S		TIAM1		SNV							ENST00000286827	protein_coding	getma.org/?cm=var&var=hg19,21,32575328,T,A&fts=all		SMART_domains:SM00455,Pfam_domain:PF02196,hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826,PROSITE_profiles:PS50898		T/S		A	neutral	2861/7200		getma.org/?cm=msa&ty=f&p=TIAM1_HUMAN&rb=765&re=832&var=T797S	tolerated(0.26)	C9JMB5_HUMAN			YES	TIAM1,missense_variant,p.Thr797Ser,ENST00000286827,NM_003253.2;TIAM1,intron_variant,,ENST00000541036,;							MODERATE	2389/4776	T797S	TIAM1_HUMAN			Transcript		benign(0.005)	.	ENSP00000286827		CCDS13609.1			1	
PGAP1	0	LGGM	GRCh37	2	197710626	197710626	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	56	14	.	.	ENST00000354764.4:c.2266T>C	p.Tyr756His	p.Y756H	ENST00000354764	NM_024989.3	756	Tat/Cat	0	1	1	UPI000035154F	0	NA	ENST00000354764		ENSG00000197121	25712		70	0.695		HGNC	p.Y28H		PGAP1		SNV			1				ENST00000422444	protein_coding	getma.org/?cm=var&var=hg19,2,197710626,A,G&fts=all		hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF15		Y/H		G	neutral	2381/11114		getma.org/?cm=msa&ty=f&p=PGAP1_HUMAN&rb=703&re=902&var=Y756H	deleterious(0.02)				YES	PGAP1,missense_variant,p.Tyr756His,ENST00000354764,NM_024989.3;PGAP1,missense_variant,p.Tyr28His,ENST00000422444,;PGAP1,downstream_gene_variant,,ENST00000409475,;PGAP1,upstream_gene_variant,,ENST00000459896,;PGAP1,3_prime_UTR_variant,,ENST00000423035,;PGAP1,non_coding_transcript_exon_variant,,ENST00000470179,;							MODERATE	2266/2769	Y756H	PGAP1_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000346809		CCDS2318.1			1	
SECISBP2L	0	LGGM	GRCh37	15	49304062	49304062	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	36	15	.	.	ENST00000559471.1:c.1732-2A>G		p.X578_splice	ENST00000559471	NM_001193489.1			0	1	1	UPI00001C1F8B	0		ENST00000559471		ENSG00000138593	28997		51			HGNC	-		SECISBP2L		SNV							ENST00000559471	protein_coding							C		-/7176				J3KPI1_HUMAN			YES	SECISBP2L,splice_acceptor_variant,,ENST00000559471,NM_001193489.1;SECISBP2L,splice_acceptor_variant,,ENST00000261847,NM_014701.3;SECISBP2L,splice_acceptor_variant,,ENST00000380927,;SECISBP2L,splice_acceptor_variant,,ENST00000559198,;SECISBP2L,downstream_gene_variant,,ENST00000561203,;							HIGH	1732/3306		SBP2L_HUMAN			Transcript			.	ENSP00000453854		CCDS53942.1			1	
COPG1	0	LGGM	GRCh37	3	128985937	128985937	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	30	15	.	.	ENST00000314797.6:c.1539G>T	p.Leu513=	p.L513=	ENST00000314797	NM_016128.3	513	ctG/ctT	0	1	1	UPI000000095F	0		ENST00000314797		ENSG00000181789	2236		45			HGNC	p.L513L		COPG1		SNV							ENST00000314797	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037093,hmmpanther:PTHR10261,hmmpanther:PTHR10261:SF3,Superfamily_domains:SSF48371		L		T		1643/3076				Q8WUI6_HUMAN			YES	COPG1,synonymous_variant,p.=,ENST00000314797,NM_016128.3;COPG1,intron_variant,,ENST00000509889,;COPG1,non_coding_transcript_exon_variant,,ENST00000515725,;COPG1,non_coding_transcript_exon_variant,,ENST00000513410,;COPG1,downstream_gene_variant,,ENST00000504547,;							LOW	1539/2625		COPG1_HUMAN			Transcript			.	ENSP00000325002		CCDS33851.1			1	
FLRT2	0	LGGM	GRCh37	14	86089165	86089165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	24	15	.	.	ENST00000330753.4:c.1307C>A	p.Ser436Tyr	p.S436Y	ENST00000330753	NM_013231.4	436	tCc/tAc	0	1	1	UPI0000049E10	0	NA	ENST00000330753		ENSG00000185070	3761		39	0.805		HGNC	p.S436Y		FLRT2		SNV							ENST00000554746	protein_coding	getma.org/?cm=var&var=hg19,14,86089165,C,A&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23,PROSITE_profiles:PS50853		S/Y		A	low	2074/7943		getma.org/?cm=msa&ty=f&p=FLRT2_HUMAN&rb=423&re=497&var=S436Y	deleterious(0.01)	B4DM15_HUMAN			YES	FLRT2,missense_variant,p.Ser436Tyr,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Ser436Tyr,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;							MODERATE	1307/1983	S436Y	FLRT2_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000332879		CCDS9877.1			1	
FAM73A	0	LGGM	GRCh37	1	78279459	78279459	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	49	15	.	.	ENST00000370791.3:c.678A>G	p.Gln226=	p.Q226=	ENST00000370791	NM_001270384.1	226	caA/caG	0	1	1	UPI00000722C6	0		ENST00000370791		ENSG00000180488	24741		64			HGNC	p.Q188Q		FAM73A		SNV							ENST00000443751	protein_coding			Pfam_domain:PF10265,hmmpanther:PTHR21508,hmmpanther:PTHR21508:SF3		Q		G		710/5288				R4GMP2_HUMAN,B7ZLZ8_HUMAN			YES	FAM73A,synonymous_variant,p.=,ENST00000370791,NM_001270384.1,NM_198549.3;FAM73A,synonymous_variant,p.=,ENST00000443751,;FAM73A,non_coding_transcript_exon_variant,,ENST00000476203,;RP11-181C21.4,upstream_gene_variant,,ENST00000406534,;RP11-181C21.4,upstream_gene_variant,,ENST00000427577,;							LOW	678/1899		FA73A_HUMAN			Transcript			.	ENSP00000359827		CCDS681.1			1	
KCNC2	0	LGGM	GRCh37	12	75436986	75436986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	29	16	.	.	ENST00000549446.1:c.1816G>T	p.Gly606Cys	p.G606C	ENST00000549446	NM_001260497.1	606	Ggc/Tgc	0	1	1	UPI000004DB9B	0	NA	ENST00000549446		ENSG00000166006	6234		45	1.24		HGNC	p.G606C		KCNC2		SNV							ENST00000549446	protein_coding	getma.org/?cm=var&var=hg19,12,75436986,C,A&fts=all				G/C		A	low	2497/5625		getma.org/?cm=msa&ty=f&p=KCNC2_HUMAN&rb=473&re=638&var=G606C	deleterious_low_confidence(0)				YES	KCNC2,missense_variant,p.Gly606Cys,ENST00000549446,NM_001260497.1,NM_139137.3;KCNC2,missense_variant,p.Gly551Cys,ENST00000540018,;KCNC2,intron_variant,,ENST00000298972,NM_139136.3;KCNC2,intron_variant,,ENST00000341669,NM_001260498.1;KCNC2,intron_variant,,ENST00000350228,NM_001260499.1,NM_153748.2;KCNC2,intron_variant,,ENST00000548513,;KCNC2,intron_variant,,ENST00000550433,;KCNC2,downstream_gene_variant,,ENST00000393288,;RP11-81K13.1,non_coding_transcript_exon_variant,,ENST00000547040,;RP11-81K13.1,intron_variant,,ENST00000550049,;RP11-81K13.1,downstream_gene_variant,,ENST00000549762,;							MODERATE	1816/1917	G606C	KCNC2_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000449253		CCDS9007.1			1	
ALDOA	0	LGGM	GRCh37	16	30081297	30081297	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	12	16	.	.	ENST00000395248.1:c.1108G>C	p.Gly370Arg	p.G370R	ENST00000395248		370	Ggg/Cgg	0	1		UPI0000000C5D	0	getma.org/pdb.php?prot=ALDOA_HUMAN&from=15&to=364&var=G316R	ENST00000338110		ENSG00000149925	414		28	2.67		HGNC	p.G316R		ALDOA		SNV			1				ENST00000563060	protein_coding	getma.org/?cm=var&var=hg19,16,30081297,G,C&fts=all		Superfamily_domains:SSF51569,Pfam_domain:PF00274,Gene3D:3.20.20.70,hmmpanther:PTHR11627		G/R		C	medium	2033/2384		getma.org/?cm=msa&ty=f&p=ALDOA_HUMAN&rb=15&re=364&var=G316R	deleterious(0.04)	H3BUH7_HUMAN,A4UCS9_HUMAN				ALDOA,missense_variant,p.Gly316Arg,ENST00000566897,;ALDOA,missense_variant,p.Gly370Arg,ENST00000395248,;ALDOA,missense_variant,p.Gly316Arg,ENST00000338110,NM_000034.3;ALDOA,missense_variant,p.Gly316Arg,ENST00000564546,;ALDOA,missense_variant,p.Gly370Arg,ENST00000564595,NM_001243177.1;ALDOA,missense_variant,p.Gly316Arg,ENST00000412304,NM_001127617.2;ALDOA,missense_variant,p.Gly316Arg,ENST00000563060,NM_184043.2;ALDOA,missense_variant,p.Gly316Arg,ENST00000569798,;ALDOA,missense_variant,p.Gly320Arg,ENST00000395240,NM_184041.2;ALDOA,missense_variant,p.Gly316Arg,ENST00000569545,;ALDOA,missense_variant,p.Gly82Arg,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,downstream_gene_variant,,ENST00000562679,;ALDOA,downstream_gene_variant,,ENST00000562168,;ALDOA,downstream_gene_variant,,ENST00000564688,;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,,ENST00000566146,;							MODERATE	946/1095	G316R	ALDOA_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000336927		CCDS10668.1			1	
DNAH8	0	LGGM	GRCh37	6	38705597	38705597	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	52	17	.	.	ENST00000359357.3:c.314G>A	p.Ser105Asn	p.S105N	ENST00000359357		105	aGt/aAt	0	1	1	UPI00003677EB	0	NA	ENST00000359357		ENSG00000124721	2952		69	1.32		HGNC	p.S105N		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38705597,G,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		S/N		A	low	568/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1&re=134&var=S105N					YES	DNAH8,missense_variant,p.Ser310Asn,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ser105Asn,ENST00000359357,;DNAH8,missense_variant,p.Ser105Asn,ENST00000441566,;DNAH8,missense_variant,p.Ser322Asn,ENST00000449981,;DNAH8,downstream_gene_variant,,ENST00000373278,;							MODERATE	314/13473	S105N	DYH8_HUMAN			Transcript		benign(0.003)	.	ENSP00000352312					1	
C1QTNF1-AS1	0	LGGM	GRCh37	17	77015666	77015666	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	54	17	.	.	ENST00000581579.1:c.173A>G	p.Glu58Gly	p.E58G	ENST00000581579		58	gAg/gGg	0	1	1	UPI0000200414	0		ENST00000581579		ENSG00000265096	44351		71			HGNC	p.E58G		C1QTNF1-AS1		SNV							ENST00000581579	protein_coding					E/G		C		490/865				J3KS61_HUMAN			YES	C1QTNF1-AS1,missense_variant,p.Glu58Gly,ENST00000581579,;C1QTNF1,upstream_gene_variant,,ENST00000339142,NM_198593.3;C1QTNF1,upstream_gene_variant,,ENST00000311661,NM_198594.2;C1QTNF1,upstream_gene_variant,,ENST00000579760,NM_030968.3;C1QTNF1,upstream_gene_variant,,ENST00000580454,;C1QTNF1,upstream_gene_variant,,ENST00000578229,;C1QTNF1-AS1,downstream_gene_variant,,ENST00000577521,;C1QTNF1,upstream_gene_variant,,ENST00000582295,;							MODERATE	173/219		YQ045_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000464523					1	
ALB	0	LGGM	GRCh37	4	74283829	74283829	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	21	18	.	.	ENST00000295897.4:c.1453T>C	p.Cys485Arg	p.C485R	ENST00000295897	NM_000477.5	485	Tgt/Cgt	0	1	1	UPI000002C1AC	0	getma.org/pdb.php?prot=ALBU_HUMAN&from=412&to=592&var=C485R	ENST00000295897		ENSG00000163631	399		39	3.245		HGNC	p.C485R		ALB		SNV			1				ENST00000295897	protein_coding	getma.org/?cm=var&var=hg19,4,74283829,T,C&fts=all		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		C/R		C	medium	1542/2263		getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=412&re=592&var=C485R	deleterious(0)				YES	ALB,missense_variant,p.Cys485Arg,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Cys485Arg,ENST00000509063,;ALB,missense_variant,p.Cys335Arg,ENST00000503124,;ALB,missense_variant,p.Cys370Arg,ENST00000401494,;ALB,missense_variant,p.Cys330Arg,ENST00000511370,;ALB,missense_variant,p.Cys293Arg,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,;							MODERATE	1453/1830	C485R	ALBU_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295897		CCDS3555.1			1	
DNM1	0	LGGM	GRCh37	9	130986552	130986552	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	19	18	.	.	ENST00000372923.3:c.1219A>G	p.Met407Val	p.M407V	ENST00000372923	NM_004408.2	407	Atg/Gtg	0	1	1	UPI000013CA31	0	getma.org/pdb.php?prot=DYN1_HUMAN&from=216&to=511&var=M407V	ENST00000372923		ENSG00000106976	2972		37	1.21		HGNC	p.M407V	rs553162657	DNM1	6.11E-05	SNV			1				ENST00000372923	protein_coding	getma.org/?cm=var&var=hg19,9,130986552,A,G&fts=all	G:0	Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32		M/V		G	low	1311/3221		getma.org/?cm=msa&ty=f&p=DYN1_HUMAN&rb=216&re=511&var=M407V	tolerated(0.19)		G:0	G:0	YES	DNM1,missense_variant,p.Met407Val,ENST00000341179,NM_001005336.1;DNM1,missense_variant,p.Met407Val,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,intron_variant,,ENST00000393594,NM_001288737.1;DNM1,intron_variant,,ENST00000486160,;DNM1,intron_variant,,ENST00000475805,NM_001288738.1;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;DNM1,intron_variant,,ENST00000482638,;		G:0.0002					MODERATE	1219/2595	M407V	DYN1_HUMAN		G:0	Transcript		benign(0.03)	.	ENSP00000362014	8.24E-06	CCDS6895.1		G:0.001	1	
CACNB2	0	LGGM	GRCh37	10	18828392	18828392	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	20	18	.	.	ENST00000324631.7:c.1722T>C	p.Tyr574=	p.Y574=	ENST00000324631	NM_201593.2	574	taT/taC	0	1	1	UPI00001AEA80	0		ENST00000324631		ENSG00000165995	1402		38			HGNC	p.Y546Y		CACNB2		SNV			1				ENST00000282343	protein_coding			hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF9		Y		C		1782/3446							YES	CACNB2,synonymous_variant,p.=,ENST00000396576,NM_000724.3;CACNB2,synonymous_variant,p.=,ENST00000282343,NM_201571.3,NM_001167945.1;CACNB2,synonymous_variant,p.=,ENST00000377315,NM_201570.2;CACNB2,synonymous_variant,p.=,ENST00000324631,NM_201593.2,NM_201596.2;CACNB2,synonymous_variant,p.=,ENST00000377329,NM_201590.2;CACNB2,synonymous_variant,p.=,ENST00000377319,;CACNB2,synonymous_variant,p.=,ENST00000352115,NM_201597.2;CACNB2,synonymous_variant,p.=,ENST00000377331,NM_201572.3;CACNB2,synonymous_variant,p.=,ENST00000377328,;RP11-499P20.2,intron_variant,,ENST00000425669,;RP11-499P20.2,downstream_gene_variant,,ENST00000436485,;							LOW	1722/1983		CACB2_HUMAN			Transcript			.	ENSP00000320025		CCDS7125.1			1	
RAG1	0	LGGM	GRCh37	11	36597308	36597308	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	26	18	.	.	ENST00000299440.5:c.2454G>T	p.Val818=	p.V818=	ENST00000299440	NM_000448.2	818	gtG/gtT	0	1	1	UPI000013E5A0	0		ENST00000299440		ENSG00000166349	9831		44			HGNC	p.V818V		RAG1		SNV			1				ENST00000534663	protein_coding			Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0		V		T		2566/6564							YES	RAG1,synonymous_variant,p.=,ENST00000299440,NM_000448.2;RAG2,non_coding_transcript_exon_variant,,ENST00000524423,;RAG1,synonymous_variant,p.=,ENST00000534663,;							LOW	2454/3132		RAG1_HUMAN			Transcript			.	ENSP00000299440		CCDS7902.1			1	
SETD2	0	LGGM	GRCh37	3	47165176	47165176	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	39	21	.	.	ENST00000409792.3:c.950T>G	p.Ile317Ser	p.I317S	ENST00000409792	NM_014159.6	317	aTc/aGc	0	1	1	UPI00017E10FB	0	NA	ENST00000409792		ENSG00000181555	18420		60	0		HGNC	p.I273S		SETD2		SNV			1				ENST00000412450	protein_coding	getma.org/?cm=var&var=hg19,3,47165176,A,C&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294		I/S		C	neutral	993/8142		getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=25&re=1253&var=I317S	deleterious_low_confidence(0.04)	C9JG86_HUMAN			YES	SETD2,missense_variant,p.Ile317Ser,ENST00000409792,NM_014159.6;SETD2,missense_variant,p.Ile273Ser,ENST00000412450,;SETD2,missense_variant,p.Ile189Ser,ENST00000330022,;SETD2,missense_variant,p.Ile35Ser,ENST00000431180,;SETD2,upstream_gene_variant,,ENST00000445387,;							MODERATE	950/7695	I317S	SETD2_HUMAN			Transcript		benign(0)	.	ENSP00000386759		CCDS2749.2			1	
ZNF732	0	LGGM	GRCh37	4	265180	265180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	46	21	.	.	ENST00000419098.1:c.1466T>A	p.Leu489Gln	p.L489Q	ENST00000419098	NM_001137608.1	489	cTg/cAg	0	1	1	UPI00017A8291	0	getma.org/pdb.php?prot=ZN732_HUMAN&from=488&to=513&var=L489Q	ENST00000419098		ENSG00000186777	37138		67	3.9		HGNC	p.L489Q		ZNF732		SNV							ENST00000419098	protein_coding	getma.org/?cm=var&var=hg19,4,265180,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF81,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/Q		T	high	1477/2193		getma.org/?cm=msa&ty=f&p=ZN732_HUMAN&rb=468&re=533&var=L489Q	deleterious(0)				YES	ZNF732,missense_variant,p.Leu489Gln,ENST00000419098,NM_001137608.1;RP11-478C6.6,upstream_gene_variant,,ENST00000511111,;RP11-478C6.5,upstream_gene_variant,,ENST00000507882,;							MODERATE	1466/1758	L489Q	ZN732_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000415774		CCDS46990.1			1	
LHCGR	0	LGGM	GRCh37	2	48948905	48948905	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	18	21	.	.	ENST00000294954.7:c.536+1690T>A		*179*	ENST00000294954	NM_000233.3			0	1	1	UPI000013E1E1	0		ENST00000294954		ENSG00000138039	6585		39			HGNC	p.C150S		LHCGR		SNV			1				ENST00000428232	protein_coding							T		-/3044				Q53S49_HUMAN,Q4ZFZ4_HUMAN			YES	LHCGR,missense_variant,p.Cys150Ser,ENST00000428232,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;LHCGR,intron_variant,,ENST00000294954,NM_000233.3;LHCGR,intron_variant,,ENST00000344775,;LHCGR,intron_variant,,ENST00000405626,;LHCGR,intron_variant,,ENST00000403273,;LHCGR,intron_variant,,ENST00000401907,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,intron_variant,,ENST00000477576,;LHCGR,intron_variant,,ENST00000602369,;							MODIFIER	-/2100		LSHR_HUMAN			Transcript			.	ENSP00000294954		CCDS1842.1			1	
CD96	0	LGGM	GRCh37	3	111263917	111263917	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	64	22	.	.	ENST00000283285.5:c.86C>T	p.Thr29Ile	p.T29I	ENST00000283285	NM_198196.2	29	aCa/aTa	0	1	1	UPI000013DD36	0	NA	ENST00000283285		ENSG00000153283	16892		86	0.345		HGNC	p.T29I		CD96		SNV			1				ENST00000488054	protein_coding	getma.org/?cm=var&var=hg19,3,111263917,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR15317,hmmpanther:PTHR15317:SF0,Superfamily_domains:SSF48726		T/I		T	neutral	217/4324		getma.org/?cm=msa&ty=f&p=TACT_HUMAN&rb=25&re=136&var=T29I	deleterious(0.03)	U3KPT0_HUMAN			YES	CD96,missense_variant,p.Thr29Ile,ENST00000352690,NM_005816.4;CD96,missense_variant,p.Thr29Ile,ENST00000283285,NM_198196.2;CD96,missense_variant,p.Thr29Ile,ENST00000438817,;CD96,downstream_gene_variant,,ENST00000460744,;CD96,missense_variant,p.Thr29Ile,ENST00000494798,;CD96,missense_variant,p.Thr29Ile,ENST00000488054,;							MODERATE	86/1758	T29I	TACT_HUMAN			Transcript		benign(0.412)	.	ENSP00000283285		CCDS2959.1			1	
ZNF830	0	LGGM	GRCh37	17	33289270	33289270	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	32	22	.	.	ENST00000361952.3:c.685G>A	p.Ala229Thr	p.A229T	ENST00000361952	NM_052857.3	229	Gca/Aca	0	1	1	UPI0000456A79	0	NA	ENST00000361952		ENSG00000198783	28291		54	1.59		HGNC	p.A229T	rs376507272	ZNF830		SNV	A:0.0002			0.000397			ENST00000361952	protein_coding	getma.org/?cm=var&var=hg19,17,33289270,G,A&fts=all		hmmpanther:PTHR13278		A/T	A:0	A	low	722/1657		getma.org/?cm=msa&ty=f&p=ZN830_HUMAN&rb=201&re=230&var=A229T	tolerated(0.06)	J3QQQ3_HUMAN			YES	ZNF830,missense_variant,p.Ala229Thr,ENST00000361952,NM_052857.3;CCT6B,intron_variant,,ENST00000585073,;CCT6B,upstream_gene_variant,,ENST00000314144,NM_006584.3;CCT6B,upstream_gene_variant,,ENST00000421975,NM_001193529.1;CCT6B,upstream_gene_variant,,ENST00000436961,NM_001193530.1;ZNF830,upstream_gene_variant,,ENST00000578339,;							MODERATE	685/1119	A229T	ZN830_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000354518	3.29E-05	CCDS32618.1			1	
THBS4	0	LGGM	GRCh37	5	79335971	79335971	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	22	23	.	.	ENST00000350881.2:c.160G>T	p.Ala54Ser	p.A54S	ENST00000350881	NM_003248.4	54	Gcc/Tcc	0	1	1	UPI000013D591	0	NA	ENST00000350881		ENSG00000113296	11788		45	-0.69		HGNC	p.A54S		THBS4		SNV							ENST00000350881	protein_coding	getma.org/?cm=var&var=hg19,5,79335971,G,T&fts=all		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF4,SMART_domains:SM00210,Superfamily_domains:SSF49899		A/S		T	neutral	350/3222		getma.org/?cm=msa&ty=f&p=TSP4_HUMAN&rb=27&re=192&var=A54S	tolerated(0.42)	E7ES19_HUMAN			YES	THBS4,missense_variant,p.Ala54Ser,ENST00000350881,NM_003248.4;THBS4,5_prime_UTR_variant,,ENST00000511733,;THBS4,non_coding_transcript_exon_variant,,ENST00000513310,;THBS4,non_coding_transcript_exon_variant,,ENST00000510218,;							MODERATE	160/2886	A54S	TSP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000339730		CCDS4049.1			1	
PRKAA1	0	LGGM	GRCh37	5	40769006	40769006	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	46	24	.	.	ENST00000354209.3:c.641+512A>G		*214*	ENST00000354209				0	1		UPI000020C9F6	0		ENST00000397128		ENSG00000132356	9376		70			HGNC	p.Q201Q	rs768039618	PRKAA1		SNV							ENST00000296800	protein_coding							C		-/5088	1.64E-05							PRKAA1,synonymous_variant,p.=,ENST00000296800,;PRKAA1,intron_variant,,ENST00000397128,NM_006251.5,NM_206907.3;PRKAA1,intron_variant,,ENST00000354209,;PRKAA1,intron_variant,,ENST00000506652,;PRKAA1,intron_variant,,ENST00000505783,;PRKAA1,intron_variant,,ENST00000509874,;PRKAA1,upstream_gene_variant,,ENST00000513152,;							MODIFIER	-/1680		AAPK1_HUMAN			Transcript			.	ENSP00000380317	8.79E-06	CCDS3932.2			1	
GMPR2	0	LGGM	GRCh37	14	24705270	24705270	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	41	25	.	.	ENST00000420554.2:c.443T>A	p.Val148Glu	p.V148E	ENST00000420554	NM_016576.3	148	gTg/gAg	0	1		UPI000000CC1C	0	getma.org/pdb.php?prot=GMPR2_HUMAN&from=8&to=346&var=V130E	ENST00000355299		ENSG00000100938	4377		66	3.955		HGNC	p.V126E		GMPR2		SNV							ENST00000559409	protein_coding	getma.org/?cm=var&var=hg19,14,24705270,T,A&fts=all		hmmpanther:PTHR11911:SF81,hmmpanther:PTHR11911,TIGRFAM_domain:TIGR01305,Pfam_domain:PF00478,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000235,Superfamily_domains:SSF51412		V/E		A	high	850/1972		getma.org/?cm=msa&ty=f&p=GMPR2_HUMAN&rb=8&re=346&var=V130E	deleterious(0)	Q86SZ5_HUMAN,H0YNS9_HUMAN,H0YL68_HUMAN				GMPR2,missense_variant,p.Val148Glu,ENST00000557854,NM_001283022.1;GMPR2,missense_variant,p.Val130Glu,ENST00000348719,;GMPR2,missense_variant,p.Val130Glu,ENST00000355299,NM_001002000.1;GMPR2,missense_variant,p.Val130Glu,ENST00000559836,NM_001002001.1;GMPR2,missense_variant,p.Val148Glu,ENST00000420554,NM_016576.3;GMPR2,missense_variant,p.Val130Glu,ENST00000399440,NM_001002002.1;GMPR2,missense_variant,p.Val102Glu,ENST00000456667,NM_001283023.1;GMPR2,missense_variant,p.Val173Glu,ENST00000561035,;GMPR2,missense_variant,p.Val126Glu,ENST00000559409,;GMPR2,5_prime_UTR_variant,,ENST00000558865,;GMPR2,intron_variant,,ENST00000559104,;GMPR2,intron_variant,,ENST00000559910,;GMPR2,intron_variant,,ENST00000560139,;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,upstream_gene_variant,,ENST00000558483,;NEDD8,upstream_gene_variant,,ENST00000250495,NM_006156.2;GMPR2,upstream_gene_variant,,ENST00000558748,;NEDD8,upstream_gene_variant,,ENST00000524927,;TINF2,downstream_gene_variant,,ENST00000560019,;NEDD8-MDP1,upstream_gene_variant,,ENST00000534348,NM_001199823.1;GMPR2,upstream_gene_variant,,ENST00000559479,;GMPR2,upstream_gene_variant,,ENST00000558788,;GMPR2,upstream_gene_variant,,ENST00000559943,;GMPR2,downstream_gene_variant,,ENST00000558279,;GMPR2,upstream_gene_variant,,ENST00000558932,;NEDD8,upstream_gene_variant,,ENST00000533242,;NEDD8,upstream_gene_variant,,ENST00000527046,;GMPR2,upstream_gene_variant,,ENST00000560517,;NEDD8-MDP1,upstream_gene_variant,,ENST00000604306,;NEDD8,upstream_gene_variant,,ENST00000531430,;GMPR2,downstream_gene_variant,,ENST00000558701,;NEDD8,upstream_gene_variant,,ENST00000526430,;GMPR2,3_prime_UTR_variant,,ENST00000561038,NM_001283021.1;GMPR2,3_prime_UTR_variant,,ENST00000559287,;GMPR2,3_prime_UTR_variant,,ENST00000561130,;GMPR2,3_prime_UTR_variant,,ENST00000559102,;GMPR2,non_coding_transcript_exon_variant,,ENST00000559606,;GMPR2,downstream_gene_variant,,ENST00000558760,;NEDD8-MDP1,upstream_gene_variant,,ENST00000605847,;TINF2,downstream_gene_variant,,ENST00000559549,;NEDD8,upstream_gene_variant,,ENST00000396828,;TINF2,downstream_gene_variant,,ENST00000557915,;NEDD8-MDP1,upstream_gene_variant,,ENST00000530579,;GMPR2,upstream_gene_variant,,ENST00000558007,;TINF2,downstream_gene_variant,,ENST00000558703,;GMPR2,downstream_gene_variant,,ENST00000559801,;							MODERATE	389/1047	V130E	GMPR2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000347449		CCDS41935.1			1	
GIN1	0	LGGM	GRCh37	5	102444341	102444341	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	43	25	.	.	ENST00000399004.2:c.71A>G	p.Tyr24Cys	p.Y24C	ENST00000399004	NM_017676.2	24	tAt/tGt	0	1	1	UPI000020C3A9	0	NA	ENST00000399004		ENSG00000145723	25959		68	0		HGNC	p.Y24C		GIN1		SNV							ENST00000508629	protein_coding	getma.org/?cm=var&var=hg19,5,102444341,T,C&fts=all				Y/C		C	neutral	166/3229		getma.org/?cm=msa&ty=f&p=GIN1_HUMAN&rb=1&re=77&var=Y24C	deleterious(0)				YES	GIN1,missense_variant,p.Tyr24Cys,ENST00000399004,NM_017676.2;GIN1,missense_variant,p.Tyr24Cys,ENST00000508629,;GIN1,upstream_gene_variant,,ENST00000511400,;GIN1,missense_variant,p.Tyr24Cys,ENST00000512248,;GIN1,missense_variant,p.Tyr24Cys,ENST00000513747,;GIN1,non_coding_transcript_exon_variant,,ENST00000513603,;							MODERATE	71/1569	Y24C	GIN1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000381970		CCDS43349.1			1	
FMN2	0	LGGM	GRCh37	1	240370914	240370946	+	inframe_deletion	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	novel	by Submitter	H071380	H071380N.bam	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	62	44	.	.	ENST00000319653.9:c.2822_2854delGAATACCTCCTCCGCCCCCTCTACCCGGAGCGG	p.Gly941_Ala951del	p.G941_A951del	ENST00000319653	NM_020066.4	934	ctGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCg/ctg	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		106			HGNC	p.934_945del	rs562038978,COSM1340565	FMN2		deletion	-:0.3357		1			0,1	ENST00000319653	protein_coding			Pfam_domain:PF06346,Prints_domain:PR01217,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,Low_complexity_(Seg):seg,SMART_domains:SM00498		LPPLPGAGIPPP/L	-:0.2564	-		3032-3064/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,inframe_deletion,p.Gly941_Ala951del,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;					0,1		MODERATE	2802-2834/5169		FMN2_HUMAN			Transcript	20		.	ENSP00000318884		CCDS31069.2			1	
ST8SIA6	0	LGGM	GRCh37	10	17373453	17373453	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	46	26	.	.	ENST00000377602.4:c.476A>T	p.Lys159Ile	p.K159I	ENST00000377602	NM_001004470.1	159	aAa/aTa	0	1	1	UPI0000359594	0	NA	ENST00000377602		ENSG00000148488	23317		72	2.38		HGNC	p.K159I		ST8SIA6		SNV							ENST00000377602	protein_coding	getma.org/?cm=var&var=hg19,10,17373453,T,A&fts=all		Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF29		K/I		A	medium	551/2276		getma.org/?cm=msa&ty=f&p=SIA8F_HUMAN&rb=134&re=394&var=K159I	deleterious(0)				YES	ST8SIA6,missense_variant,p.Lys159Ile,ENST00000377602,NM_001004470.1;ST8SIA6,upstream_gene_variant,,ENST00000440449,;							MODERATE	476/1197	K159I	SIA8F_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000366827		CCDS31158.1			1	
CACNA2D4	0	LGGM	GRCh37	12	2016730	2016730	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	49	26	.	.	ENST00000382722.5:c.657T>C	p.Asp219=	p.D219=	ENST00000382722	NM_172364.4	219	gaT/gaC	0	1	1	UPI0000E593D9	0		ENST00000382722		ENSG00000151062	20202		75			HGNC	p.D219D		CACNA2D4		SNV			1				ENST00000587995	protein_coding			Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26		D		G		1020/5475							YES	CACNA2D4,synonymous_variant,p.=,ENST00000382722,NM_172364.4;CACNA2D4,synonymous_variant,p.=,ENST00000587995,;CACNA2D4,synonymous_variant,p.=,ENST00000586184,;CACNA2D4,synonymous_variant,p.=,ENST00000588077,;CACNA2D4,synonymous_variant,p.=,ENST00000585708,;CACNA2D4,synonymous_variant,p.=,ENST00000585732,;CACNA2D4,synonymous_variant,p.=,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;							LOW	657/3414		CA2D4_HUMAN			Transcript			.	ENSP00000372169		CCDS44785.1			1	
KIAA1244	0	LGGM	GRCh37	6	138629892	138629892	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	37	27	.	.	ENST00000251691.4:c.3990A>T	p.Pro1330=	p.P1330=	ENST00000251691	NM_020340.4	1330	ccA/ccT	0	1	1	UPI000150AF4A	0		ENST00000251691		ENSG00000112379	21213		64			HGNC	p.P1330P		KIAA1244		SNV							ENST00000251691	protein_coding			hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		P		T		4156/14877				C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,synonymous_variant,p.=,ENST00000251691,NM_020340.4;							LOW	3990/6534		BIG3_HUMAN			Transcript			.	ENSP00000251691		CCDS5189.2			1	
SUPT3H	0	LGGM	GRCh37	6	45333025	45333025	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	31	28	.	.	ENST00000371460.1:c.-139C>T		*47*	ENST00000371460	NM_181356.2			0	1	1	UPI000018CE7C	0	NA	ENST00000371460		ENSG00000196284	11466		59	0		HGNC	p.A5V		SUPT3H		SNV							ENST00000306867	protein_coding	getma.org/?cm=var&var=hg19,6,45333025,G,A&fts=all						A	neutral	180/2389		getma.org/?cm=msa&ty=f&p=SUPT3_HUMAN&rb=1&re=105&var=A87V		B4E1H0_HUMAN			YES	SUPT3H,missense_variant,p.Ala5Val,ENST00000371459,NM_003599.3,NM_001261823.1;SUPT3H,missense_variant,p.Ala5Val,ENST00000306867,;SUPT3H,5_prime_UTR_variant,,ENST00000371460,NM_181356.2;RUNX2,intron_variant,,ENST00000371438,NM_001024630.3;RUNX2,intron_variant,,ENST00000576263,;RUNX2,intron_variant,,ENST00000465038,;RUNX2,intron_variant,,ENST00000352853,;RUNX2,intron_variant,,ENST00000541979,NM_001015051.3;RUNX2,intron_variant,,ENST00000371436,;SUPT3H,non_coding_transcript_exon_variant,,ENST00000459689,;RUNX2,intron_variant,,ENST00000483243,;RUNX2,intron_variant,,ENST00000473041,;SUPT3H,missense_variant,p.Ala5Val,ENST00000475057,;RUNX2,intron_variant,,ENST00000483377,;							MODIFIER	-/987	A87V	SUPT3_HUMAN			Transcript			.	ENSP00000360515		CCDS34466.1			1	
PAICS	0	LGGM	GRCh37	4	57318042	57318042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	57	29	.	.	ENST00000399688.3:c.797T>C	p.Leu266Pro	p.L266P	ENST00000399688	NM_001079525.1	266	cTt/cCt	0	1		UPI0000132A76	0	getma.org/pdb.php?prot=PUR6_HUMAN&from=254&to=265&var=L259P	ENST00000264221		ENSG00000128050	8587		86	2.19		HGNC	p.L259P	rs771504681	PAICS	0.000125	SNV							ENST00000505164	protein_coding	getma.org/?cm=var&var=hg19,4,57318042,T,C&fts=all		hmmpanther:PTHR11609,hmmpanther:PTHR11609:SF3		L/P		C	medium	1007/3339		getma.org/?cm=msa&ty=f&p=PUR6_HUMAN&rb=224&re=295&var=L259P		E9PBS1_HUMAN,D6RF62_HUMAN,B4DGX3_HUMAN				PAICS,missense_variant,p.Leu167Pro,ENST00000514888,;PAICS,missense_variant,p.Leu259Pro,ENST00000264221,NM_006452.3;PAICS,missense_variant,p.Leu266Pro,ENST00000399688,NM_001079525.1;PAICS,missense_variant,p.Leu259Pro,ENST00000512576,NM_001079524.1;PAICS,missense_variant,p.Leu259Pro,ENST00000505164,;PAICS,downstream_gene_variant,,ENST00000508554,;							MODERATE	776/1278	L259P	PUR6_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000264221	8.28E-06	CCDS47061.1			1	
SRRT	0	LGGM	GRCh37	7	100484688	100484688	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	58	30	.	.	ENST00000347433.4:c.1842T>G	p.Leu614=	p.L614=	ENST00000347433		614	ctT/ctG	0	1	1	UPI0000126098	0		ENST00000347433		ENSG00000087087	24101		88			HGNC	p.L244L		SRRT		SNV							ENST00000448764	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0		L		G		2000/2904							YES	SRRT,synonymous_variant,p.=,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,synonymous_variant,p.=,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,synonymous_variant,p.=,ENST00000347433,;SRRT,synonymous_variant,p.=,ENST00000432932,;SRRT,synonymous_variant,p.=,ENST00000448764,;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.3;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000426415,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,non_coding_transcript_exon_variant,,ENST00000487311,;SRRT,non_coding_transcript_exon_variant,,ENST00000469602,;ACHE,downstream_gene_variant,,ENST00000454485,;ACHE,downstream_gene_variant,,ENST00000442452,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000466432,;							LOW	1842/2631		SRRT_HUMAN			Transcript			.	ENSP00000314491		CCDS34709.1			1	
C3orf67	0	LGGM	GRCh37	3	58852332	58852332	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	45	30	.	.	ENST00000295966.7:c.843G>C	p.Leu281Phe	p.L281F	ENST00000295966	NM_198463.2	281	ttG/ttC	0	1		UPI0000EE2BB5	0	NA	ENST00000482387		ENSG00000163689	24763		75	1.735		HGNC	p.L281F		C3orf67		SNV							ENST00000482387	protein_coding	getma.org/?cm=var&var=hg19,3,58852332,C,G&fts=all		hmmpanther:PTHR12458,hmmpanther:PTHR12458:SF7		L/F		G	low	940/2617		getma.org/?cm=msa&ty=f&p=CC067_HUMAN&rb=1&re=687&var=L281F	tolerated(0.17)	H7C5H9_HUMAN				C3orf67,missense_variant,p.Leu188Phe,ENST00000472469,;C3orf67,missense_variant,p.Leu281Phe,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Leu281Phe,ENST00000482387,;RP11-147N17.1,non_coding_transcript_exon_variant,,ENST00000463703,;RP11-147N17.1,intron_variant,,ENST00000482372,;RP11-147N17.1,intron_variant,,ENST00000493123,;RP11-147N17.1,intron_variant,,ENST00000492031,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;							MODERATE	843/2070	L281F	CC067_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000417122					1	
RSU1	0	LGGM	GRCh37	10	16794608	16794608	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	137	31	.	.	ENST00000377921.3:c.528C>T	p.Ile176=	p.I176=	ENST00000377921		176	atC/atT	0	1		UPI0000000C72	0		ENST00000345264		ENSG00000148484	10464		168			HGNC	p.I176I		RSU1		SNV							ENST00000377921	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF12799,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,SMART_domains:SM00369,Superfamily_domains:SSF52058		I		A		745/3834								RSU1,synonymous_variant,p.=,ENST00000377921,;RSU1,synonymous_variant,p.=,ENST00000345264,NM_012425.3;RSU1,synonymous_variant,p.=,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,;							LOW	528/834		RSU1_HUMAN			Transcript			.	ENSP00000339521		CCDS7112.1			1	
ZFHX4	0	LGGM	GRCh37	8	77768220	77768220	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	77	34	.	.	ENST00000521891.2:c.9063C>G	p.Ser3021=	p.S3021=	ENST00000521891	NM_024721.4	3021	tcC/tcG	0	1	1	UPI0000424CC7	0		ENST00000521891		ENSG00000091656	30939		111			HGNC	p.S3021S		ZFHX4		SNV							ENST00000521891	protein_coding			PROSITE_patterns:PS00028,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355,SMART_domains:SM00451,Superfamily_domains:SSF57667		S		G		9511/14019				Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,synonymous_variant,p.=,ENST00000521891,NM_024721.4;ZFHX4,synonymous_variant,p.=,ENST00000455469,;ZFHX4,synonymous_variant,p.=,ENST00000518282,;ZFHX4,synonymous_variant,p.=,ENST00000050961,;							LOW	9063/10851					Transcript			.	ENSP00000430497		CCDS47878.2			1	
PIAS1	0	LGGM	GRCh37	15	68479938	68479938	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	135	36	.	.	ENST00000249636.6:c.1721T>A	p.Leu574His	p.L574H	ENST00000249636	NM_016166.1	574	cTc/cAc	0	1	1	UPI0000131A8C	0	NA	ENST00000249636		ENSG00000033800	2752		171	1.61		HGNC	p.L576H		PIAS1		SNV							ENST00000545237	protein_coding	getma.org/?cm=var&var=hg19,15,68479938,T,A&fts=all		hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF11		L/H		A	low	1869/2333		getma.org/?cm=msa&ty=f&p=PIAS1_HUMAN&rb=381&re=580&var=L574H	deleterious_low_confidence(0.03)	Q1XBU8_HUMAN			YES	PIAS1,missense_variant,p.Leu576His,ENST00000545237,;PIAS1,missense_variant,p.Leu574His,ENST00000249636,NM_016166.1;CALML4,downstream_gene_variant,,ENST00000395465,;CALML4,downstream_gene_variant,,ENST00000448060,NM_001031733.2;PIAS1,3_prime_UTR_variant,,ENST00000563996,;CALML4,downstream_gene_variant,,ENST00000478113,NM_001286695.1;							MODERATE	1721/1956	L574H	PIAS1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000249636		CCDS45290.1			1	
ROR1	0	LGGM	GRCh37	1	64643380	64643380	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	108	36	.	.	ENST00000371079.1:c.1656T>C	p.Phe552=	p.F552=	ENST00000371079	NM_005012.3	552	ttT/ttC	0	1	1	UPI00001AF82C	0		ENST00000371079		ENSG00000185483	10256		144			HGNC	p.F3F	rs767954102	ROR1	6.06E-05	SNV							ENST00000545203	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000624,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Superfamily_domains:SSF56112		F		C		2031/5832							YES	ROR1,synonymous_variant,p.=,ENST00000371079,NM_005012.3;ROR1,synonymous_variant,p.=,ENST00000545203,;							LOW	1656/2814		ROR1_HUMAN			Transcript			.	ENSP00000360120	8.24E-06	CCDS626.1			1	
DST	0	LGGM	GRCh37	6	56328539	56328539	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	125	37	.	.	ENST00000244364.6:c.14842C>T	p.Leu4948=	p.L4948=	ENST00000244364	NM_015548.4	4948	Ctg/Ttg	0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		162			HGNC	p.L4948L		DST		SNV			1				ENST00000244364	protein_coding			Gene3D:1v5rA00		L		A		15050/16742				Q86T18_HUMAN			YES	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,synonymous_variant,p.=,ENST00000523292,;DST,3_prime_UTR_variant,,ENST00000312431,;DST,non_coding_transcript_exon_variant,,ENST00000523597,;DST,non_coding_transcript_exon_variant,,ENST00000482156,;DST,non_coding_transcript_exon_variant,,ENST00000466429,;DST,upstream_gene_variant,,ENST00000518464,;DST,downstream_gene_variant,,ENST00000524216,;							LOW	14842/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
ADAM18	0	LGGM	GRCh37	8	39564388	39564388	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	68	37	.	.	ENST00000265707.5:c.1982G>A	p.Gly661Glu	p.G661E	ENST00000265707	NM_014237.2	661	gGg/gAg	0	1	1	UPI00001254D7	0	NA	ENST00000265707		ENSG00000168619	196		105	3.165		HGNC	p.G637E	rs774247682	ADAM18		SNV				9.92E-05			ENST00000379866	protein_coding	getma.org/?cm=var&var=hg19,8,39564388,G,A&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28		G/E		A	medium	2027/2388	1.51E-05	getma.org/?cm=msa&ty=f&p=ADA18_HUMAN&rb=598&re=739&var=G661E	deleterious(0)	Q0VAI3_HUMAN,E5RK96_HUMAN			YES	ADAM18,missense_variant,p.Gly661Glu,ENST00000265707,NM_014237.2;ADAM18,missense_variant,p.Gly637Glu,ENST00000379866,;ADAM18,missense_variant,p.Gly75Glu,ENST00000541111,;ADAM18,non_coding_transcript_exon_variant,,ENST00000523755,;ADAM18,3_prime_UTR_variant,,ENST00000520087,;ADAM18,non_coding_transcript_exon_variant,,ENST00000524117,;							MODERATE	1982/2220	G661E	ADA18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265707	1.65E-05	CCDS6113.1			1	
STON2	0	LGGM	GRCh37	14	81743489	81743489	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	66	38	.	.	ENST00000555447.1:c.2166G>A	p.Gln722=	p.Q722=	ENST00000555447	NM_001256430.1	722	caG/caA	0	1		UPI000007259C	0		ENST00000267540		ENSG00000140022	30652		104			HGNC	p.Q722Q	rs759246123	STON2		SNV							ENST00000267540	protein_coding			PROSITE_profiles:PS51072,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF19,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF037099,Superfamily_domains:0038852		Q		T		2367/2977	1.50E-05			G3V322_HUMAN				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,;							LOW	2166/2718		STON2_HUMAN			Transcript			.	ENSP00000267540	8.24E-06	CCDS9875.1			1	
TBX19	0	LGGM	GRCh37	1	168250427	168250427	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	41	41	.	.	ENST00000367821.3:c.99A>C	p.Lys33Asn	p.K33N	ENST00000367821	NM_005149.2	33	aaA/aaC	0	1	1	UPI000003176C	0	NA	ENST00000367821		ENSG00000143178	11596		82	2.56		HGNC	p.K33N		TBX19		SNV			1				ENST00000367821	protein_coding	getma.org/?cm=var&var=hg19,1,168250427,A,C&fts=all		Prints_domain:PR00938,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF16		K/N		C	medium	150/2822		getma.org/?cm=msa&ty=f&p=TBX19_HUMAN&rb=1&re=41&var=K33N	deleterious(0)				YES	TBX19,missense_variant,p.Lys33Asn,ENST00000367821,NM_005149.2;							MODERATE	99/1347	K33N	TBX19_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000356795		CCDS1272.1			1	
PCM1	0	LGGM	GRCh37	8	17796277	17796277	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071380	H071380N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	112	42	.	.	ENST00000325083.8:c.371G>T	p.Arg124Ile	p.R124I	ENST00000325083	NM_006197.3	124	aGa/aTa	0	1	1	UPI0000210A25	0	NA	ENST00000325083		ENSG00000078674	8727		154	0.895		HGNC	p.R124I		PCM1		SNV			1				ENST00000523055	protein_coding	getma.org/?cm=var&var=hg19,8,17796277,G,T&fts=all		hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12		R/I		T	low	810/6820		getma.org/?cm=msa&ty=f&p=PCM1_HUMAN&rb=1&re=200&var=R124I	deleterious(0)	E5RGQ4_HUMAN			YES	PCM1,missense_variant,p.Arg124Ile,ENST00000325083,NM_006197.3;PCM1,missense_variant,p.Arg124Ile,ENST00000519253,;PCM1,missense_variant,p.Arg124Ile,ENST00000524226,;PCM1,missense_variant,p.Arg124Ile,ENST00000517730,;PCM1,missense_variant,p.Arg124Ile,ENST00000518537,;PCM1,missense_variant,p.Arg124Ile,ENST00000523055,;PCM1,intron_variant,,ENST00000518930,;PCM1,intron_variant,,ENST00000518985,;PCM1,downstream_gene_variant,,ENST00000518936,;							MODERATE	371/6075	R124I	PCM1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000327077		CCDS47812.1			1	
NXPH1	0	LGGM	GRCh37	7	8790989	8790989	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	93	44	.	.	ENST00000405863.1:c.406T>C	p.Leu136=	p.L136=	ENST00000405863	NM_152745.2	136	Ttg/Ctg	0	1	1	UPI000000DC02	0		ENST00000405863		ENSG00000122584	20693		137			HGNC	p.L136L		NXPH1		SNV							ENST00000438764	protein_coding			hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,Pfam_domain:PF06312,PIRSF_domain:PIRSF038019		L		C		1317/2921				Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN			YES	NXPH1,synonymous_variant,p.=,ENST00000405863,NM_152745.2;NXPH1,synonymous_variant,p.=,ENST00000602349,;NXPH1,synonymous_variant,p.=,ENST00000429542,;NXPH1,synonymous_variant,p.=,ENST00000438764,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;							LOW	406/816		NXPH1_HUMAN			Transcript			.	ENSP00000384551		CCDS47540.1			1	
GPR158	0	LGGM	GRCh37	10	25887598	25887598	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	45	47	.	.	ENST00000376351.3:c.3043A>T	p.Thr1015Ser	p.T1015S	ENST00000376351	NM_020752.2	1015	Acc/Tcc	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		92	1.355		HGNC	p.T1015S		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25887598,A,T&fts=all		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546		T/S		T	low	3402/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=870&re=1069&var=T1015S	tolerated(0.72)				YES	GPR158,missense_variant,p.Thr1015Ser,ENST00000376351,NM_020752.2;GPR158,non_coding_transcript_exon_variant,,ENST00000490549,;							MODERATE	3043/3648	T1015S	GP158_HUMAN			Transcript		benign(0.008)	.	ENSP00000365529		CCDS31166.1			1	
TXNRD1	0	LGGM	GRCh37	12	104714928	104714928	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	112	51	.	.	ENST00000525566.1:c.1049A>G	p.Tyr350Cys	p.Y350C	ENST00000525566	NM_001093771.2	350	tAt/tGt	0	1	1	UPI00015294EE	0	getma.org/pdb.php?prot=TRXR1_HUMAN&from=342&to=422&var=Y350C	ENST00000525566		ENSG00000198431	12437		163	4.67		HGNC	p.Y250C		TXNRD1		SNV							ENST00000542918	protein_coding	getma.org/?cm=var&var=hg19,12,104714928,A,G&fts=all		Prints_domain:PR00411,Prints_domain:PR00368,Superfamily_domains:SSF51905,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01438,Pfam_domain:PF00070,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129		Y/C		G	high	1073/3836		getma.org/?cm=msa&ty=f&p=TRXR1_HUMAN&rb=342&re=422&var=Y350C	deleterious(0)	F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN			YES	TXNRD1,missense_variant,p.Tyr252Cys,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,missense_variant,p.Tyr200Cys,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,missense_variant,p.Tyr252Cys,ENST00000388854,;TXNRD1,missense_variant,p.Tyr299Cys,ENST00000378070,;TXNRD1,missense_variant,p.Tyr350Cys,ENST00000525566,NM_001093771.2;TXNRD1,missense_variant,p.Tyr350Cys,ENST00000429002,;TXNRD1,missense_variant,p.Tyr244Cys,ENST00000526390,;TXNRD1,missense_variant,p.Tyr200Cys,ENST00000354940,NM_182742.2;TXNRD1,missense_variant,p.Tyr315Cys,ENST00000427956,;TXNRD1,missense_variant,p.Tyr244Cys,ENST00000397736,;TXNRD1,missense_variant,p.Tyr162Cys,ENST00000540716,;TXNRD1,missense_variant,p.Tyr162Cys,ENST00000529546,;TXNRD1,missense_variant,p.Tyr200Cys,ENST00000524698,;TXNRD1,missense_variant,p.Tyr250Cys,ENST00000542918,;TXNRD1,missense_variant,p.Tyr269Cys,ENST00000526950,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,downstream_gene_variant,,ENST00000527335,;TXNRD1,downstream_gene_variant,,ENST00000526580,;TXNRD1,missense_variant,p.Tyr200Cys,ENST00000527688,;							MODERATE	1049/1950	Y350C	TRXR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000434516		CCDS53820.1			1	
KLF6	0	LGGM	GRCh37	10	3824156	3824156	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	76	57	.	.	ENST00000497571.1:c.353A>G	p.Glu118Gly	p.E118G	ENST00000497571	NM_001300.5	118	gAa/gGa	0	1	1	UPI00000015BD	0	NA	ENST00000497571		ENSG00000067082	2235		133	2.35		HGNC	p.E118G		KLF6		SNV			1				ENST00000542957	protein_coding	getma.org/?cm=var&var=hg19,10,3824156,T,C&fts=all		hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF139,Low_complexity_(Seg):seg		E/G		C	medium	614/4656		getma.org/?cm=msa&ty=f&p=KLF6_HUMAN&rb=1&re=179&var=E118G	tolerated(0.08)	Q7Z3W8_HUMAN			YES	KLF6,missense_variant,p.Glu118Gly,ENST00000497571,NM_001300.5,NM_001160124.1;KLF6,missense_variant,p.Glu118Gly,ENST00000542957,NM_001160125.1;KLF6,missense_variant,p.Glu118Gly,ENST00000469435,;KLF6,non_coding_transcript_exon_variant,,ENST00000173785,;KLF6,non_coding_transcript_exon_variant,,ENST00000380946,;KLF6,upstream_gene_variant,,ENST00000461124,;KLF6,upstream_gene_variant,,ENST00000492125,;							MODERATE	353/852	E118G	KLF6_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000419923		CCDS7060.1			1	
OR2G3	0	LGGM	GRCh37	1	247768979	247768979	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H071380	H071380N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	52	65	.	.	ENST00000320002.2:c.92del	p.Val31AlafsTer7	p.V31Afs*7	ENST00000320002	NM_001001914.1	31	gTc/gc	0	1	1	UPI0000041CD9	0		ENST00000320002		ENSG00000177476	15008		117			HGNC	p.V31fs		OR2G3		deletion							ENST00000320002	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		V/X		-		124/983							YES	OR2G3,frameshift_variant,p.Val31AlafsTer7,ENST00000320002,NM_001001914.1;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;							HIGH	92/930		OR2G3_HUMAN			Transcript			.	ENSP00000326301		CCDS31093.1			1	
HP	0	LGGM	GRCh37	16	72094321	72094321	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071380	H071380N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	40	79	.	.	ENST00000355906.5:c.753A>C	p.Lys251Asn	p.K251N	ENST00000355906	NM_005143.3	251	aaA/aaC	0	1	1	UPI000012CB71	0	getma.org/pdb.php?prot=HPT_HUMAN&from=162&to=399&var=K251N	ENST00000355906		ENSG00000257017	5141		119	2.895		HGNC	p.K192N		HP		SNV			1				ENST00000570083	protein_coding	getma.org/?cm=var&var=hg19,16,72094321,A,C&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF25,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722		K/N		C	medium	811/1443		getma.org/?cm=msa&ty=f&p=HPT_HUMAN&rb=162&re=399&var=K251N	deleterious(0)	Q6PEJ8_HUMAN			YES	HP,missense_variant,p.Lys287Asn,ENST00000357763,;HP,missense_variant,p.Lys251Asn,ENST00000355906,NM_005143.3;HP,missense_variant,p.Lys192Asn,ENST00000570083,;HP,missense_variant,p.Lys192Asn,ENST00000398131,NM_001126102.1;HP,missense_variant,p.Lys249Asn,ENST00000567185,;HP,missense_variant,p.Lys210Asn,ENST00000567612,;HP,missense_variant,p.Lys192Asn,ENST00000565574,;HP,missense_variant,p.Lys152Asn,ENST00000564499,;HPR,intron_variant,,ENST00000356967,;HP,intron_variant,,ENST00000562526,;TXNL4B,intron_variant,,ENST00000562153,;HPR,upstream_gene_variant,,ENST00000540303,NM_020995.3;HP,downstream_gene_variant,,ENST00000576168,;HPR,upstream_gene_variant,,ENST00000561690,;HP,downstream_gene_variant,,ENST00000569639,;HP,downstream_gene_variant,,ENST00000568417,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,downstream_gene_variant,,ENST00000565807,;HP,downstream_gene_variant,,ENST00000561927,;HPR,upstream_gene_variant,,ENST00000566168,;HP,downstream_gene_variant,,ENST00000562488,;							MODERATE	753/1221	K251N	HPT_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000348170		CCDS45524.1			1	
TAF2	0	LGGM	GRCh37	8	120744290	120744290	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071380	H071380N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071380N.bam, H071380T.bam	Illumina HiSeq	128	126	.	.	ENST00000378164.2:c.3474G>A	p.Lys1158=	p.K1158=	ENST00000378164	NM_003184.3	1158	aaG/aaA	0	1	1	UPI0000210507	0		ENST00000378164		ENSG00000064313	11536		254			HGNC	p.K1158K		TAF2		SNV			1				ENST00000378164	protein_coding			hmmpanther:PTHR15137,Low_complexity_(Seg):seg		K		T		3773/5048							YES	TAF2,synonymous_variant,p.=,ENST00000378164,NM_003184.3;TAF2,synonymous_variant,p.=,ENST00000529653,;TAF2,downstream_gene_variant,,ENST00000526969,;							LOW	3474/3600		TAF2_HUMAN			Transcript			.	ENSP00000367406		CCDS34937.1			1	
AXDND1	0	LGGM	GRCh37	1	179348560	179348560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	37	3	.	.	ENST00000367618.3:c.524C>T	p.Pro175Leu	p.P175L	ENST00000367618	NM_144696.5	175	cCt/cTt	0	1	1	UPI000022AC91	0	NA	ENST00000367618		ENSG00000162779	26564		40	2.005		HGNC	p.P133L		AXDND1		SNV							ENST00000509175	protein_coding	getma.org/?cm=var&var=hg19,1,179348560,C,T&fts=all		hmmpanther:PTHR23052		P/L		T	medium	911/3642		getma.org/?cm=msa&ty=f&p=AXDN1_HUMAN&rb=1&re=198&var=P175L	deleterious(0)	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN			YES	AXDND1,missense_variant,p.Pro175Leu,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Pro109Leu,ENST00000434088,;AXDND1,missense_variant,p.Pro175Leu,ENST00000457238,;AXDND1,missense_variant,p.Pro133Leu,ENST00000509175,;AXDND1,downstream_gene_variant,,ENST00000511889,;AXDND1,non_coding_transcript_exon_variant,,ENST00000461179,;AXDND1,non_coding_transcript_exon_variant,,ENST00000510593,;AXDND1,missense_variant,p.Pro175Leu,ENST00000511157,;							MODERATE	524/3039	P175L	AXDN1_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000356590		CCDS30948.1			1	
BRD8	0	LGGM	GRCh37	5	137502273	137502273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	6	3	.	.	ENST00000254900.5:c.931A>G	p.Met311Val	p.M311V	ENST00000254900	NM_139199.1	311	Atg/Gtg	0	1	1	UPI0000246C01	0	NA	ENST00000254900		ENSG00000112983	19874		9	0.695		HGNC	p.M340V		BRD8		SNV							ENST00000454473	protein_coding	getma.org/?cm=var&var=hg19,5,137502273,T,C&fts=all		hmmpanther:PTHR15398,hmmpanther:PTHR15398:SF1		M/V		C	neutral	1303/4388		getma.org/?cm=msa&ty=f&p=BRD8_HUMAN&rb=46&re=700&var=M311V	tolerated(0.25)	F8WDX5_HUMAN,F8WBH2_HUMAN			YES	BRD8,missense_variant,p.Met311Val,ENST00000254900,NM_139199.1;BRD8,missense_variant,p.Met384Val,ENST00000230901,NM_006696.3;BRD8,missense_variant,p.Met340Val,ENST00000454473,;BRD8,missense_variant,p.Met311Val,ENST00000402931,;BRD8,missense_variant,p.Met270Val,ENST00000455658,;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,;							MODERATE	931/3708	M311V	BRD8_HUMAN			Transcript		possibly_damaging(0.488)	.	ENSP00000254900		CCDS4198.1			1	
PDS5A	0	LGGM	GRCh37	4	39839723	39839723	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	35	3	.	.	ENST00000303538.8:c.3763G>T	p.Glu1255Ter	p.E1255*	ENST00000303538	NM_001100399.1	1255	Gag/Tag	0	1	1	UPI00006C6A7E	0	NA	ENST00000303538		ENSG00000121892	29088		38	0		HGNC	p.E1255X		PDS5A		SNV							ENST00000303538	protein_coding	getma.org/?cm=var&var=hg19,4,39839723,C,A&fts=all		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2		E/*		A	NA	4303/7176		NA		Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN			YES	PDS5A,stop_gained,p.Glu1255Ter,ENST00000303538,NM_001100399.1;PDS5A,non_coding_transcript_exon_variant,,ENST00000507766,;							HIGH	3763/4014	E1255*	PDS5A_HUMAN			Transcript			.	ENSP00000303427		CCDS47045.1			1	
TEP1	0	LGGM	GRCh37	14	20841557	20841557	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	29	3	.	.	ENST00000262715.5:c.6686G>A	p.Cys2229Tyr	p.C2229Y	ENST00000262715	NM_007110.4	2229	tGc/tAc	0	1	1	UPI000013D30B	0	NA	ENST00000262715		ENSG00000129566	11726		32	0.12		HGNC	p.C567Y		TEP1		SNV							ENST00000545983	protein_coding	getma.org/?cm=var&var=hg19,14,20841557,C,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294		C/Y		T	neutral	6727/10695		getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=2228&re=2266&var=C2229Y	tolerated(1)	G3V591_HUMAN			YES	TEP1,missense_variant,p.Cys2229Tyr,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Cys2121Tyr,ENST00000556935,;TEP1,missense_variant,p.Cys567Tyr,ENST00000545983,;TEP1,upstream_gene_variant,,ENST00000553984,;TEP1,missense_variant,p.Cys1572Tyr,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000553365,;TEP1,downstream_gene_variant,,ENST00000556488,;TEP1,downstream_gene_variant,,ENST00000471684,;							MODERATE	6686/7884	C2229Y	TEP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000262715		CCDS9548.1			1	
KIAA1551	0	LGGM	GRCh37	12	32137784	32137784	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	28	3	.	.	ENST00000312561.4:c.3895T>G	p.Phe1299Val	p.F1299V	ENST00000312561	NM_018169.3	1299	Ttt/Gtt	0	1	1	UPI0000577B2F	0	NA	ENST00000312561		ENSG00000174718	25559		31	0.895		HGNC	p.F1299V		KIAA1551		SNV							ENST00000312561	protein_coding	getma.org/?cm=var&var=hg19,12,32137784,T,G&fts=all		Pfam_domain:PF15395,hmmpanther:PTHR21604		F/V		G	low	4309/6228		getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=1224&re=1373&var=F1299V	deleterious(0.03)	J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,missense_variant,p.Phe1299Val,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,;							MODERATE	3895/5244	F1299V	K1551_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000310338		CCDS8725.2			1	
COL11A1	0	LGGM	GRCh37	1	103343610	103343610	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	40	4	.	.	ENST00000370096.3:c.5386G>T	p.Gly1796Ter	p.G1796*	ENST00000370096	NM_001854.3	1796	Gga/Tga	0	1	1	UPI00002053EF	0	NA	ENST00000370096		ENSG00000060718	2186		44	0		HGNC	p.G1796X		COL11A1		SNV			1				ENST00000370096	protein_coding	getma.org/?cm=var&var=hg19,1,103343610,C,A&fts=all		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,SMART_domains:SM00038		G/*		A	NA	5699/7286		NA		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,stop_gained,p.Gly1808Ter,ENST00000358392,NM_080629.2;COL11A1,stop_gained,p.Gly1796Ter,ENST00000370096,NM_001854.3;COL11A1,stop_gained,p.Gly1757Ter,ENST00000353414,NM_001190709.1;COL11A1,stop_gained,p.Gly1680Ter,ENST00000512756,NM_080630.3;COL11A1,non_coding_transcript_exon_variant,,ENST00000470170,;							HIGH	5386/5421	G1796*	COBA1_HUMAN			Transcript			.	ENSP00000359114		CCDS778.1			1	
TET3	0	LGGM	GRCh37	2	74329145	74329145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	11	4	.	.	ENST00000409262.3:c.4825C>T	p.Arg1609Cys	p.R1609C	ENST00000409262	NM_144993.1	1609	Cgc/Tgc	0	1	1	UPI0000DD79F5	0	NA	ENST00000409262		ENSG00000187605	28313		15	1.79		HGNC	p.R1609C	rs747079275	TET3		SNV							ENST00000409262	protein_coding	getma.org/?cm=var&var=hg19,2,74329145,C,T&fts=all		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF4		R/C		T	low	4825/10983	2.06E-05	getma.org/?cm=msa&ty=f&p=TET3_HUMAN&rb=1563&re=1660&var=R1609C	deleterious(0.01)	K9JJH7_HUMAN			YES	TET3,missense_variant,p.Arg1609Cys,ENST00000409262,NM_144993.1,NM_001287491.1;							MODERATE	4825/4983	R1609C	TET3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386869	8.28E-06	CCDS46339.1			1	
C21orf67	0	LGGM	GRCh37	21	46354263	46354263	+	downstream_gene_variant	3'Flank	SNP	T	T	A	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	49	4	.	.				ENST00000330551				0	1	1	UPI00001286B6	0		ENST00000330551		ENSG00000183250	15707		53		377	HGNC	p.T175S		C21orf67		SNV							ENST00000397841	protein_coding							A		-/1033							YES	C21orf67,missense_variant,p.Thr175Ser,ENST00000397841,;C21orf67,downstream_gene_variant,,ENST00000330551,;C21orf67,downstream_gene_variant,,ENST00000380070,;ITGB2,upstream_gene_variant,,ENST00000521995,;ITGB2-AS1,downstream_gene_variant,,ENST00000441379,;LL21NC02-1C16.2,upstream_gene_variant,,ENST00000609953,;LL21NC02-1C16.1,upstream_gene_variant,,ENST00000609461,;							MODIFIER	-/615		CU067_HUMAN			Transcript			.	ENSP00000331610					1	
GREB1	0	LGGM	GRCh37	2	11778860	11778860	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	40	4	.	.	ENST00000381486.2:c.5611T>G	p.Phe1871Val	p.F1871V	ENST00000381486	NM_014668.3	1871	Ttc/Gtc	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		44	2.22		HGNC	p.F869V		GREB1		SNV							ENST00000396123	protein_coding	getma.org/?cm=var&var=hg19,2,11778860,T,G&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13,Low_complexity_(Seg):seg		F/V		G	medium	5873/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=F1871V	deleterious(0)					GREB1,missense_variant,p.Phe1871Val,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Phe1871Val,ENST00000234142,;GREB1,missense_variant,p.Phe869Val,ENST00000396123,;							MODERATE	5611/5850	F1871V	GREB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000234142		CCDS42655.1			1	
KIAA0319	0	LGGM	GRCh37	6	24559294	24559294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	20	4	.	.	ENST00000378214.3:c.2681C>T	p.Ser894Leu	p.S894L	ENST00000378214	NM_014809.3	894	tCa/tTa	0	1	1	UPI000020D61A	0	NA	ENST00000378214		ENSG00000137261	21580		24	-0.485		HGNC	p.S894L		KIAA0319		SNV			1				ENST00000543707	protein_coding	getma.org/?cm=var&var=hg19,6,24559294,G,A&fts=all		hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194		S/L		A	neutral	3206/6802		getma.org/?cm=msa&ty=f&p=K0319_HUMAN&rb=816&re=1015&var=S894L	tolerated(0.51)				YES	KIAA0319,missense_variant,p.Ser885Leu,ENST00000535378,NM_001168374.1;KIAA0319,missense_variant,p.Ser894Leu,ENST00000378214,NM_014809.3,NM_001168375.1;KIAA0319,missense_variant,p.Ser894Leu,ENST00000537886,NM_001168377.1;KIAA0319,missense_variant,p.Ser849Leu,ENST00000430948,NM_001168376.1;KIAA0319,missense_variant,p.Ser894Leu,ENST00000543707,;							MODERATE	2681/3219	S894L	K0319_HUMAN			Transcript		benign(0.008)	.	ENSP00000367459		CCDS34348.1			1	
ERCC3	0	LGGM	GRCh37	2	128036765	128036765	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	11	4	.	.	ENST00000285398.2:c.1714G>T	p.Ala572Ser	p.A572S	ENST00000285398	NM_000122.1	572	Gcc/Tcc	0	1	1	UPI000013900E	0	getma.org/pdb.php?prot=ERCC3_HUMAN&from=542&to=702&var=A572S	ENST00000285398		ENSG00000163161	3435		15	2.225		HGNC	p.A572S		ERCC3		SNV			1				ENST00000285398	protein_coding	getma.org/?cm=var&var=hg19,2,128036765,C,A&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR11274:SF0,hmmpanther:PTHR11274,TIGRFAM_domain:TIGR00603,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540,Prints_domain:PR00851		A/S		A	medium	1809/2750		getma.org/?cm=msa&ty=f&p=ERCC3_HUMAN&rb=542&re=702&var=A572S	deleterious(0.02)	G3V1S1_HUMAN			YES	ERCC3,missense_variant,p.Ala508Ser,ENST00000493187,;ERCC3,missense_variant,p.Ala572Ser,ENST00000285398,NM_000122.1;ERCC3,3_prime_UTR_variant,,ENST00000445889,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;							MODERATE	1714/2349	A572S	ERCC3_HUMAN			Transcript		possibly_damaging(0.448)	.	ENSP00000285398		CCDS2144.1			1	
ZFP36L1	0	LGGM	GRCh37	14	69262584	69262584	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	11	5	.	.				ENST00000439696	NM_004926.3			0	1		UPI0000136FBC	0		ENST00000336440		ENSG00000185650	1107		16		1131	HGNC	p.R143L		ZFP36L1		SNV							ENST00000408913	protein_coding							A		-/3026				G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN				ZFP36L1,missense_variant,p.Arg143Leu,ENST00000408913,;ZFP36L1,intron_variant,,ENST00000557086,;ZFP36L1,intron_variant,,ENST00000553375,;ZFP36L1,intron_variant,,ENST00000557022,;ZFP36L1,upstream_gene_variant,,ENST00000439696,NM_004926.3,NM_001244701.1;ZFP36L1,upstream_gene_variant,,ENST00000555997,;ZFP36L1,upstream_gene_variant,,ENST00000336440,;							MODIFIER	-/1017		TISB_HUMAN			Transcript			.	ENSP00000337386		CCDS9791.1			1	
PRR12	0	LGGM	GRCh37	19	50119063	50119063	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	57	5	.	.	ENST00000418929.2:c.5084A>C	p.Lys1695Thr	p.K1695T	ENST00000418929	NM_020719.1	1695	aAg/aCg	0	1	1	UPI0001596889	0	NA	ENST00000418929		ENSG00000126464	29217		62	1.5		HGNC	p.K1695T		PRR12		SNV							ENST00000418929	protein_coding	getma.org/?cm=var&var=hg19,19,50119063,A,C&fts=all		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1,Low_complexity_(Seg):seg		K/T		C	low	5096/6955		getma.org/?cm=msa&ty=f&p=PRR12_HUMAN&rb=801&re=994&var=K874T					YES	PRR12,missense_variant,p.Lys1695Thr,ENST00000418929,NM_020719.1;PRR12,upstream_gene_variant,,ENST00000593853,;							MODERATE	5084/6111	K874T	PRR12_HUMAN			Transcript		unknown(0)	.	ENSP00000394510		CCDS46143.1			1	
FABP4	0	LGGM	GRCh37	8	82395362	82395362	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	15	5	.	.	ENST00000256104.4:c.41G>A	p.Ser14Asn	p.S14N	ENST00000256104	NM_001442.2	14	aGt/aAt	0	1	1	UPI000013CEEC	0	getma.org/pdb.php?prot=FABP4_HUMAN&from=6&to=132&var=S14N	ENST00000256104		ENSG00000170323	3559		20	2.1		HGNC	p.S14N		FABP4		SNV							ENST00000522659	protein_coding	getma.org/?cm=var&var=hg19,8,82395362,C,T&fts=all		Prints_domain:PR00178,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,PROSITE_patterns:PS00214,hmmpanther:PTHR11955:SF71,hmmpanther:PTHR11955		S/N		T	medium	137/941		getma.org/?cm=msa&ty=f&p=FABP4_HUMAN&rb=6&re=132&var=S14N	deleterious(0.01)	E7DVW4_HUMAN			YES	FABP4,missense_variant,p.Ser14Asn,ENST00000256104,NM_001442.2;RP11-157I4.4,intron_variant,,ENST00000524085,;FABP4,non_coding_transcript_exon_variant,,ENST00000518669,;FABP4,missense_variant,p.Ser14Asn,ENST00000522659,;FABP4,upstream_gene_variant,,ENST00000521734,;							MODERATE	41/399	S14N	FABP4_HUMAN			Transcript		possibly_damaging(0.615)	.	ENSP00000256104		CCDS6230.1			1	
RET	0	LGGM	GRCh37	10	43595990	43595990	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	23	6	.	.	ENST00000355710.3:c.157G>A	p.Val53Ile	p.V53I	ENST00000355710	NM_020975.4	53	Gtc/Atc	0	1	1	UPI00001336E1	0	getma.org/pdb.php?prot=RET_HUMAN&from=1&to=171&var=V53I	ENST00000355710		ENSG00000165731	9967		29	1.495		HGNC	p.V53I	rs547308774	RET		SNV			1	9.74E-05			ENST00000340058	protein_coding	getma.org/?cm=var&var=hg19,10,43595990,G,A&fts=all	A:0.0008	PIRSF_domain:PIRSF000631		V/I		A	low	389/5659		getma.org/?cm=msa&ty=f&p=RET_HUMAN&rb=1&re=171&var=V53I	tolerated_low_confidence(0.25)	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	A:0	A:0	YES	RET,missense_variant,p.Val53Ile,ENST00000355710,NM_020975.4;RET,missense_variant,p.Val53Ile,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000498820,;RET,upstream_gene_variant,,ENST00000479913,;		A:0.0002					MODERATE	157/3345	V53I	RET_HUMAN		A:0	Transcript		benign(0.004)	.	ENSP00000347942	8.24E-06	CCDS7200.1		A:0	1	
GOLGA8K	0	LGGM	GRCh37	15	32689439	32689439	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	14	6	.	.	ENST00000512626.2:c.751C>A	p.Arg251=	p.R251=	ENST00000512626	NM_001282493.1	251	Cgg/Agg	0	1	1	UPI0001A5E7CC	0		ENST00000512626		ENSG00000249931	38652		20			HGNC	p.R251R		GOLGA8K		SNV							ENST00000512626	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15070,hmmpanther:PTHR10881		R		T		752/1894							YES	GOLGA8K,synonymous_variant,p.=,ENST00000512626,NM_001282493.1;AC139426.2,downstream_gene_variant,,ENST00000435655,;AC139426.1,upstream_gene_variant,,ENST00000408517,;RN7SL185P,upstream_gene_variant,,ENST00000492212,;RP13-395E19.3,downstream_gene_variant,,ENST00000562108,;							LOW	751/1893		GOG8K_HUMAN			Transcript			.	ENSP00000426691		CCDS61577.1			1	
ABCC6	0	LGGM	GRCh37	16	16259751	16259751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	8	6	.	.	ENST00000205557.7:c.3035G>T	p.Gly1012Val	p.G1012V	ENST00000205557	NM_001171.5	1012	gGt/gTt	0	1	1	UPI00001AE5CA	0	NA	ENST00000205557		ENSG00000091262	57		14	2.685		HGNC	p.G1012V		ABCC6		SNV			1				ENST00000205557	protein_coding	getma.org/?cm=var&var=hg19,16,16259751,C,A&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR00957,Transmembrane_helices:TMhelix		G/V		A	medium	3065/5747		getma.org/?cm=msa&ty=f&p=MRP6_HUMAN&rb=946&re=1219&var=G1012V	deleterious(0)				YES	ABCC6,missense_variant,p.Gly1012Val,ENST00000205557,NM_001171.5;ABCC6,3_prime_UTR_variant,,ENST00000456970,;							MODERATE	3035/4512	G1012V	MRP6_HUMAN			Transcript		possibly_damaging(0.517)	.	ENSP00000205557		CCDS10568.1			1	
TMEM173	0	LGGM	GRCh37	5	138857049	138857049	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	31	7	.	.	ENST00000330794.4:c.811A>G	p.Met271Val	p.M271V	ENST00000330794	NM_198282.2	271	Atg/Gtg	0	1	1	UPI000000DC5E	0	getma.org/pdb.php?prot=TM173_HUMAN&from=1&to=375&var=M271V	ENST00000330794		ENSG00000184584	27962		38	2.36		HGNC	p.M271V		TMEM173		SNV							ENST00000330794	protein_coding	getma.org/?cm=var&var=hg19,5,138857049,T,C&fts=all		Pfam_domain:PF15009		M/V		C	medium	1145/1771		getma.org/?cm=msa&ty=f&p=TM173_HUMAN&rb=1&re=375&var=M271V	deleterious(0)	J3QTB1_HUMAN			YES	TMEM173,missense_variant,p.Met271Val,ENST00000330794,NM_198282.2;TMEM173,downstream_gene_variant,,ENST00000510817,;AC138517.1,downstream_gene_variant,,ENST00000593907,;TMEM173,non_coding_transcript_exon_variant,,ENST00000511886,;TMEM173,intron_variant,,ENST00000512606,;TMEM173,downstream_gene_variant,,ENST00000511850,;TMEM173,downstream_gene_variant,,ENST00000515507,;TMEM173,downstream_gene_variant,,ENST00000514542,;TMEM173,non_coding_transcript_exon_variant,,ENST00000507297,;TMEM173,non_coding_transcript_exon_variant,,ENST00000503287,;TMEM173,intron_variant,,ENST00000509573,;TMEM173,downstream_gene_variant,,ENST00000514119,;TMEM173,downstream_gene_variant,,ENST00000514348,;TMEM173,downstream_gene_variant,,ENST00000503838,;TMEM173,downstream_gene_variant,,ENST00000502825,;TMEM173,downstream_gene_variant,,ENST00000502362,;							MODERATE	811/1140	M271V	STING_HUMAN			Transcript		possibly_damaging(0.671)	.	ENSP00000331288		CCDS4215.1			1	
MED6	0	LGGM	GRCh37	14	71063416	71063416	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	16	7	.	.	ENST00000256379.5:c.186G>A	p.Gln62=	p.Q62=	ENST00000256379	NM_005466.2	62	caG/caA	0	1	1	UPI000012EEAD	0		ENST00000256379		ENSG00000133997	19970		23			HGNC	p.Q62Q		MED6		SNV							ENST00000256379	protein_coding			hmmpanther:PTHR13104,Pfam_domain:PF04934,PIRSF_domain:PIRSF023869		Q		T		216/1995							YES	MED6,synonymous_variant,p.=,ENST00000256379,NM_005466.2;MED6,synonymous_variant,p.=,ENST00000430055,NM_001284209.1;MED6,synonymous_variant,p.=,ENST00000554963,;MED6,synonymous_variant,p.=,ENST00000440435,NM_001284210.1;CTD-2540L5.5,non_coding_transcript_exon_variant,,ENST00000553982,;MED6,splice_acceptor_variant,,ENST00000556044,;MED6,non_coding_transcript_exon_variant,,ENST00000554870,;MED6,non_coding_transcript_exon_variant,,ENST00000556495,;MED6,non_coding_transcript_exon_variant,,ENST00000553523,;MED6,non_coding_transcript_exon_variant,,ENST00000556423,;MED6,non_coding_transcript_exon_variant,,ENST00000553611,;MED6,upstream_gene_variant,,ENST00000555296,;KRT18P7,downstream_gene_variant,,ENST00000557241,;							LOW	186/741		MED6_HUMAN			Transcript			.	ENSP00000256379		CCDS9805.1			1	
TRPS1	0	LGGM	GRCh37	8	116426628	116426628	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	23	7	.	.	ENST00000395715.3:c.3508G>T	p.Gly1170Ter	p.G1170*	ENST00000395715	NM_014112.2	1170	Gga/Tga	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		30	0		HGNC	p.G1170X		TRPS1		SNV			1				ENST00000395715	protein_coding	getma.org/?cm=var&var=hg19,8,116426628,C,A&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6		G/*		A	NA	3629/5480		NA						TRPS1,stop_gained,p.Gly1170Ter,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,stop_gained,p.Gly1157Ter,ENST00000220888,;TRPS1,stop_gained,p.Gly1161Ter,ENST00000520276,NM_001282902.1;TRPS1,stop_gained,p.Gly911Ter,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000518018,;							HIGH	3469/3846	G1157*	TRPS1_HUMAN			Transcript			.	ENSP00000220888					1	
ZNF28	0	LGGM	GRCh37	19	53303249	53303249	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	189	7	.	.	ENST00000457749.2:c.1849C>A	p.Arg617Ser	p.R617S	ENST00000457749	NM_006969.3	617	Cgt/Agt	0	1	1	UPI00001D8190	0	getma.org/pdb.php?prot=ZNF28_HUMAN&from=593&to=618&var=R617S	ENST00000457749		ENSG00000198538	13073		196	-0.24		HGNC	p.R564S		ZNF28		SNV							ENST00000360272	protein_coding	getma.org/?cm=var&var=hg19,19,53303249,G,T&fts=all		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		R/S		T	neutral	1969/4556		getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=573&re=638&var=R617S	tolerated(1)	C9K0H3_HUMAN			YES	ZNF28,missense_variant,p.Arg564Ser,ENST00000438150,;ZNF28,missense_variant,p.Arg617Ser,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Arg564Ser,ENST00000360272,;ZNF28,missense_variant,p.Arg564Ser,ENST00000414252,;ZNF28,downstream_gene_variant,,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;							MODERATE	1849/2157	R617S	ZNF28_HUMAN			Transcript		benign(0.013)	.	ENSP00000397693		CCDS33093.2			1	
KDM1A	0	LGGM	GRCh37	1	23376981	23376981	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	43	7	.	.	ENST00000400181.4:c.679C>T	p.Gln227Ter	p.Q227*	ENST00000400181	NM_001009999.2	227	Cag/Tag	0	1		UPI000020466D	0	NA	ENST00000356634		ENSG00000004487	29079		50	0		HGNC	p.Q227X		KDM1A		SNV							ENST00000542151	protein_coding	getma.org/?cm=var&var=hg19,1,23376981,C,T&fts=all		PROSITE_profiles:PS50934,hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF245,Pfam_domain:PF04433,Gene3D:1.10.10.10,PIRSF_domain:PIRSF038051,Superfamily_domains:SSF46689		Q/*		T	NA	768/3033		NA						KDM1A,stop_gained,p.Gln227Ter,ENST00000400181,NM_001009999.2;KDM1A,stop_gained,p.Gln227Ter,ENST00000542151,;KDM1A,stop_gained,p.Gln207Ter,ENST00000356634,NM_015013.3;RP1-184J9.2,intron_variant,,ENST00000427154,;KDM1A,non_coding_transcript_exon_variant,,ENST00000481879,;							HIGH	619/2559	Q207*	KDM1A_HUMAN			Transcript			.	ENSP00000349049		CCDS30627.1			1	
TWF1	0	LGGM	GRCh37	12	44194329	44194329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	59	7	.	.	ENST00000548315.1:c.287G>A	p.Arg96His	p.R96H	ENST00000548315		96	cGt/cAt	0	1		UPI000000DA18	0	getma.org/pdb.php?prot=TWF1_HUMAN&from=9&to=138&var=R96H	ENST00000395510		ENSG00000151239	9620		66	3.785		HGNC	p.R130H		TWF1		SNV							ENST00000325127	protein_coding	getma.org/?cm=var&var=hg19,12,44194329,C,T&fts=all		PROSITE_profiles:PS51263,hmmpanther:PTHR13759,hmmpanther:PTHR13759:SF3,Gene3D:3.40.20.10,Pfam_domain:PF00241,SMART_domains:SM00102,Superfamily_domains:SSF55753		R/H		T	high	417/3045		getma.org/?cm=msa&ty=f&p=TWF1_HUMAN&rb=9&re=138&var=R96H	deleterious(0)					TWF1,missense_variant,p.Arg96His,ENST00000395510,NM_001242397.1,NM_002822.4;TWF1,missense_variant,p.Arg130His,ENST00000325127,;TWF1,missense_variant,p.Arg96His,ENST00000548315,;TWF1,missense_variant,p.Arg134His,ENST00000546662,;TWF1,missense_variant,p.Arg70His,ENST00000548403,;TWF1,5_prime_UTR_variant,,ENST00000552521,;TWF1,5_prime_UTR_variant,,ENST00000546506,;TWF1,downstream_gene_variant,,ENST00000547564,;TWF1,3_prime_UTR_variant,,ENST00000547459,;TWF1,3_prime_UTR_variant,,ENST00000550371,;TWF1,upstream_gene_variant,,ENST00000551789,;TWF1,downstream_gene_variant,,ENST00000547961,;							MODERATE	287/1053	R96H	TWF1_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000378886		CCDS31780.2			1	
TENM4	0	LGGM	GRCh37	11	78369403	78369403	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	26	8	.	.	ENST00000278550.7:c.8010C>G	p.Tyr2670Ter	p.Y2670*	ENST00000278550	NM_001098816.2	2670	taC/taG	0	1	1	UPI0000DD8112	0	NA	ENST00000278550		ENSG00000149256	29945		34	0		HGNC	p.Y2670X		TENM4		SNV							ENST00000278550	protein_coding	getma.org/?cm=var&var=hg19,11,78369403,G,C&fts=all		hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		Y/*		C	NA	8473/14000		NA		G3CAT1_HUMAN			YES	TENM4,stop_gained,p.Tyr2670Ter,ENST00000278550,NM_001098816.2;TENM4,intron_variant,,ENST00000530738,;							HIGH	8010/8310	Y2670*	TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
FLYWCH2	0	LGGM	GRCh37	16	2946477	2946477	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	17	8	.	.	ENST00000396958.3:c.27G>C	p.Gln9His	p.Q9H	ENST00000396958	NM_138439.2	9	caG/caC	0	1		UPI000006F797	0	NA	ENST00000293981		ENSG00000162076	25178		25	1.04		HGNC	p.Q9H		FLYWCH2		SNV							ENST00000396958	protein_coding	getma.org/?cm=var&var=hg19,16,2946477,G,C&fts=all		Pfam_domain:PF15423,hmmpanther:PTHR31665		Q/H		C	low	286/915		getma.org/?cm=msa&ty=f&p=FWCH2_HUMAN&rb=1&re=114&var=Q9H	deleterious(0)	I3L4I0_HUMAN				FLYWCH2,missense_variant,p.Gln9His,ENST00000396958,NM_138439.2,NM_001142500.1;FLYWCH2,missense_variant,p.Gln9His,ENST00000293981,NM_001142499.1;FLYWCH2,missense_variant,p.Gln9His,ENST00000572006,;FLYWCH2,missense_variant,p.Gln9His,ENST00000573965,;FLYWCH2,upstream_gene_variant,,ENST00000572786,;							MODERATE	27/423	Q9H	FWCH2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000293981		CCDS10482.1			1	
KNTC1	0	LGGM	GRCh37	12	123071287	123071287	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	27	8	.	.	ENST00000333479.7:c.3713A>G	p.Tyr1238Cys	p.Y1238C	ENST00000333479	NM_014708.4	1238	tAc/tGc	0	1	1	UPI0000047FD6	0	NA	ENST00000333479		ENSG00000184445	17255		35	1.87		HGNC	p.Y1238C		KNTC1		SNV							ENST00000333479	protein_coding	getma.org/?cm=var&var=hg19,12,123071287,A,G&fts=all		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688		Y/C		G	low	3890/6975		getma.org/?cm=msa&ty=f&p=KNTC1_HUMAN&rb=1201&re=1400&var=Y1238C	tolerated(0.14)	J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,missense_variant,p.Tyr1238Cys,ENST00000333479,NM_014708.4;KNTC1,intron_variant,,ENST00000450485,;							MODERATE	3713/6630	Y1238C	KNTC1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000328236		CCDS45002.1			1	
PCDHB2	0	LGGM	GRCh37	5	140475525	140475525	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	22	8	.	.	ENST00000194155.4:c.1151T>C	p.Val384Ala	p.V384A	ENST00000194155	NM_018936.2	384	gTg/gCg	0	1	1	UPI00001273DC	0	getma.org/pdb.php?prot=PCDB2_HUMAN&from=356&to=444&var=V384A	ENST00000194155		ENSG00000112852	8687		30	1.805		HGNC	p.V384A		PCDHB2		SNV							ENST00000194155	protein_coding	getma.org/?cm=var&var=hg19,5,140475525,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/A		C	low	1299/2736		getma.org/?cm=msa&ty=f&p=PCDB2_HUMAN&rb=356&re=444&var=V384A	deleterious_low_confidence(0.04)				YES	PCDHB2,missense_variant,p.Val384Ala,ENST00000194155,NM_018936.2;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.2;AC005754.7,downstream_gene_variant,,ENST00000607216,;							MODERATE	1151/2397	V384A	PCDB2_HUMAN			Transcript		benign(0.046)	.	ENSP00000194155		CCDS4244.1			1	
GLB1L2	0	LGGM	GRCh37	11	134238630	134238630	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	27	8	.	.	ENST00000535456.2:c.982G>A	p.Gly328Arg	p.G328R	ENST00000535456	NM_138342.3	328	Gga/Aga	0	1		UPI0000074534	0	getma.org/pdb.php?prot=GLBL2_HUMAN&from=53&to=368&var=G328R	ENST00000339772		ENSG00000149328	25129		35	4.41		HGNC	p.G328R		GLB1L2		SNV							ENST00000535456	protein_coding	getma.org/?cm=var&var=hg19,11,134238630,G,A&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF01301,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF53,Superfamily_domains:SSF51445		G/R		A	high	1170/3152		getma.org/?cm=msa&ty=f&p=GLBL2_HUMAN&rb=53&re=368&var=G328R	deleterious(0)	Q8NCG3_HUMAN				GLB1L2,missense_variant,p.Gly328Arg,ENST00000535456,NM_138342.3;GLB1L2,missense_variant,p.Gly328Arg,ENST00000389881,;GLB1L2,missense_variant,p.Gly328Arg,ENST00000339772,;GLB1L2,missense_variant,p.Gly267Arg,ENST00000525089,;GLB1L2,missense_variant,p.Gly156Arg,ENST00000533324,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000533355,;GLB1L2,downstream_gene_variant,,ENST00000531081,;							MODERATE	982/1911	G328R	GLBL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000344659		CCDS31724.1			1	
PPP2R4	0	LGGM	GRCh37	9	131904791	131904791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	29	8	.	.	ENST00000393370.2:c.854C>A	p.Ser285Tyr	p.S285Y	ENST00000393370	NM_178000.2	285	tCc/tAc	0	1		UPI000013D6D5	0	getma.org/pdb.php?prot=PTPA_HUMAN&from=25&to=358&var=S320Y	ENST00000337738		ENSG00000119383	9308		37	2.52		HGNC	p.S250Y		PPP2R4		SNV							ENST00000417728	protein_coding	getma.org/?cm=var&var=hg19,9,131904791,C,A&fts=all		hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984		S/Y		A	medium	1226/2824		getma.org/?cm=msa&ty=f&p=PTPA_HUMAN&rb=25&re=358&var=S320Y	deleterious(0)	Q5T949_HUMAN,Q5T948_HUMAN,C9IZ76_HUMAN,B7ZBQ0_HUMAN				PPP2R4,missense_variant,p.Ser320Tyr,ENST00000337738,NM_178001.2;PPP2R4,missense_variant,p.Ser285Tyr,ENST00000393370,NM_178000.2;PPP2R4,missense_variant,p.Ser291Tyr,ENST00000348141,;PPP2R4,missense_variant,p.Ser285Tyr,ENST00000358994,NM_021131.4;PPP2R4,missense_variant,p.Ser256Tyr,ENST00000357197,NM_001271832.1;PPP2R4,missense_variant,p.Ser243Tyr,ENST00000355007,NM_178003.2;PPP2R4,missense_variant,p.Ser66Tyr,ENST00000347048,;PPP2R4,missense_variant,p.Ser320Tyr,ENST00000452489,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000524946,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000414510,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000423100,;PPP2R4,missense_variant,p.Ser250Tyr,ENST00000417728,NM_001193397.1;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000419582,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000434095,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000432651,;PPP2R4,missense_variant,p.Ser90Tyr,ENST00000411917,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000435132,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000432124,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000436883,;PPP2R4,missense_variant,p.Ser23Tyr,ENST00000435305,;PPP2R4,downstream_gene_variant,,ENST00000455240,;							MODERATE	959/1077	S320Y	PTPA_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000337448					1	
PRKCE	0	LGGM	GRCh37	2	46234723	46234723	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	25	9	.	.	ENST00000306156.3:c.1186C>A	p.Arg396=	p.R396=	ENST00000306156	NM_005400.2	396	Cgg/Agg	0	1	1	UPI000012DF6B	0		ENST00000306156		ENSG00000171132	9401		34			HGNC	p.R396R		PRKCE		SNV							ENST00000306156	protein_coding			PIRSF_domain:PIRSF501106,PIRSF_domain:PIRSF000551,hmmpanther:PTHR24357:SF52,hmmpanther:PTHR24357		R		A		1513/5650				Q53RT0_HUMAN,L7RTI5_HUMAN,C9JR22_HUMAN			YES	PRKCE,synonymous_variant,p.=,ENST00000306156,NM_005400.2;PRKCE,synonymous_variant,p.=,ENST00000394874,;AC017078.1,upstream_gene_variant,,ENST00000416146,;							LOW	1186/2214		KPCE_HUMAN			Transcript			.	ENSP00000306124		CCDS1824.1			1	
GYS1	0	LGGM	GRCh37	19	49477536	49477536	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	2	9	.	.	ENST00000323798.3:c.1483G>C	p.Glu495Gln	p.E495Q	ENST00000323798	NM_002103.4	495	Gag/Cag	0	1	1	UPI0000000C44	0	getma.org/pdb.php?prot=GYS1_HUMAN&from=31&to=663&var=E495Q	ENST00000323798		ENSG00000104812	4706		11	1.805		HGNC	p.E128Q		GYS1		SNV			1				ENST00000544287	protein_coding	getma.org/?cm=var&var=hg19,19,49477536,C,G&fts=all		hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF2,Pfam_domain:PF05693,Superfamily_domains:SSF53756		E/Q		G	low	1680/3574		getma.org/?cm=msa&ty=f&p=GYS1_HUMAN&rb=31&re=663&var=E495Q	tolerated(0.21)	F5H1N8_HUMAN			YES	GYS1,missense_variant,p.Glu495Gln,ENST00000323798,NM_002103.4;GYS1,missense_variant,p.Glu431Gln,ENST00000263276,NM_001161587.1;GYS1,missense_variant,p.Glu415Gln,ENST00000541188,;GYS1,missense_variant,p.Glu128Gln,ENST00000544287,;GYS1,downstream_gene_variant,,ENST00000540532,;GYS1,upstream_gene_variant,,ENST00000594220,;GYS1,non_coding_transcript_exon_variant,,ENST00000472004,;GYS1,non_coding_transcript_exon_variant,,ENST00000496048,;							MODERATE	1483/2214	E495Q	GYS1_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000317904		CCDS12747.1			1	
SLC15A4	0	LGGM	GRCh37	12	129278838	129278838	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	55	9	.	.	ENST00000266771.5:c.1637C>T	p.Thr546Ile	p.T546I	ENST00000266771	NM_145648.3	546	aCc/aTc	0	1	1	UPI000006F120	0	NA	ENST00000266771		ENSG00000139370	23090		64	2.395		HGNC	p.T63I		SLC15A4		SNV							ENST00000545031	protein_coding	getma.org/?cm=var&var=hg19,12,129278838,G,A&fts=all		hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF80,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		T/I		A	medium	1677/2776		getma.org/?cm=msa&ty=f&p=S15A4_HUMAN&rb=497&re=577&var=T546I	deleterious(0)	F5GZQ7_HUMAN,B6ZDF2_HUMAN			YES	SLC15A4,missense_variant,p.Thr546Ile,ENST00000266771,NM_145648.3;SLC15A4,missense_variant,p.Thr209Ile,ENST00000544112,;SLC15A4,missense_variant,p.Thr63Ile,ENST00000545031,;SLC15A4,3_prime_UTR_variant,,ENST00000376744,;							MODERATE	1637/1734	T546I	S15A4_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000266771		CCDS9264.1			1	
NBEA	0	LGGM	GRCh37	13	35770356	35770356	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	176	9	.	.	ENST00000400445.3:c.5283C>T	p.Gly1761=	p.G1761=	ENST00000400445	NM_015678.4	1761	ggC/ggT	0	1	1	UPI00004FF92F	0		ENST00000400445		ENSG00000172915	7648		185			HGNC	p.G1761G		NBEA		SNV							ENST00000540320	protein_coding			hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743		G		T		5817/11119							YES	NBEA,synonymous_variant,p.=,ENST00000400445,NM_015678.4;NBEA,synonymous_variant,p.=,ENST00000540320,;NBEA,synonymous_variant,p.=,ENST00000310336,;NBEA,synonymous_variant,p.=,ENST00000379939,;							LOW	5283/8841		NBEA_HUMAN			Transcript			.	ENSP00000383295		CCDS45026.1			1	
IGSF8	0	LGGM	GRCh37	1	160062723	160062723	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	25	9	.	.	ENST00000368086.1:c.1303C>T	p.Arg435Trp	p.R435W	ENST00000368086		435	Cgg/Tgg	0	1		UPI0000073CBA	0	NA	ENST00000314485		ENSG00000162729	17813		34	1.245		HGNC	p.R435W	rs763458807,COSM898147	IGSF8		SNV						0,1	ENST00000368086	protein_coding	getma.org/?cm=var&var=hg19,1,160062723,G,A&fts=all		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,SMART_domains:SM00409		R/W		A	low	1520/2343	6.16E-05	getma.org/?cm=msa&ty=f&p=IGSF8_HUMAN&rb=431&re=560&var=R435W	deleterious(0)	C9J8Z4_HUMAN				IGSF8,missense_variant,p.Arg435Trp,ENST00000368086,;IGSF8,missense_variant,p.Arg435Trp,ENST00000314485,NM_052868.4,NM_001206665.2;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,downstream_gene_variant,,ENST00000448417,;IGSF8,downstream_gene_variant,,ENST00000460351,;					0,1		MODERATE	1303/1842	R435W	IGSF8_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000316664	4.12E-05	CCDS1195.1			1	
CRYBA4	0	LGGM	GRCh37	22	27021551	27021551	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	39	10	.	.	ENST00000354760.3:c.265G>A	p.Glu89Lys	p.E89K	ENST00000354760	NM_001886.2	89	Gag/Aag	0	1	1	UPI0000167B21	0	getma.org/pdb.php?prot=CRBA4_HUMAN&from=13&to=97&var=E89K	ENST00000354760		ENSG00000196431	2396		49	2.67		HGNC	p.E89K	rs369225228	CRYBA4		SNV	T:0		1				ENST00000354760	protein_coding	getma.org/?cm=var&var=hg19,22,27021551,G,A&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF19,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695		E/K	T:0.0001	A	medium	300/811	3.02E-05	getma.org/?cm=msa&ty=f&p=CRBA4_HUMAN&rb=13&re=97&var=E89K	deleterious(0.01)				YES	CRYBA4,missense_variant,p.Glu89Lys,ENST00000354760,NM_001886.2;CRYBA4,non_coding_transcript_exon_variant,,ENST00000466315,;							MODERATE	265/591	E89K	CRBA4_HUMAN			Transcript		benign(0.006)	.	ENSP00000346805	1.65E-05	CCDS13841.1			1	
SCN4A	0	LGGM	GRCh37	17	62050165	62050165	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	23	10	.	.	ENST00000435607.1:c.37G>A	p.Gly13Ser	p.G13S	ENST00000435607	NM_000334.4	13	Ggc/Agc	0	1	1	UPI0000201254	0	NA	ENST00000435607		ENSG00000007314	10591		33	3.13		HGNC	p.G13S		SCN4A		SNV			1				ENST00000435607	protein_coding	getma.org/?cm=var&var=hg19,17,62050165,C,T&fts=all		Prints_domain:PR01665		G/S		T	medium	114/7805		getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1&re=158&var=G13S	deleterious_low_confidence(0.02)	Q9H3L9_HUMAN			YES	SCN4A,missense_variant,p.Gly13Ser,ENST00000435607,NM_000334.4;SCN4A,missense_variant,p.Gly13Ser,ENST00000578147,;CTC-264K15.6,downstream_gene_variant,,ENST00000577329,;							MODERATE	37/5511	G13S	SCN4A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000396320		CCDS45761.1			1	
GPAT2	0	LGGM	GRCh37	2	96689146	96689146	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	30	10	.	.	ENST00000434632.1:c.1939T>C	p.Leu647=	p.L647=	ENST00000434632		647	Ttg/Ctg	0	1		UPI0000E5E123	0		ENST00000359548		ENSG00000186281	27168		40			HGNC	p.L576L	rs772422118,COSM1483375	GPAT2	6.06E-05	SNV						0,1	ENST00000453542	protein_coding			hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF7		L		G		2099/2761				C9JYV5_HUMAN				GPAT2,synonymous_variant,p.=,ENST00000434632,;GPAT2,synonymous_variant,p.=,ENST00000359548,NM_207328.2;GPAT2,synonymous_variant,p.=,ENST00000453542,;GPAT2,intron_variant,,ENST00000377137,;FAHD2CP,downstream_gene_variant,,ENST00000607780,;FAHD2CP,downstream_gene_variant,,ENST00000467292,;FAHD2CP,downstream_gene_variant,,ENST00000443258,;FAHD2CP,downstream_gene_variant,,ENST00000483000,;GPAT2,non_coding_transcript_exon_variant,,ENST00000482704,;GPAT2,non_coding_transcript_exon_variant,,ENST00000471757,;GPAT2,non_coding_transcript_exon_variant,,ENST00000486463,;GPAT2,non_coding_transcript_exon_variant,,ENST00000484440,;FAHD2CP,downstream_gene_variant,,ENST00000427863,;					0,1		LOW	1939/2388		GPAT2_HUMAN			Transcript			.	ENSP00000352547	8.27E-06	CCDS42714.1			1	
EIF5	0	LGGM	GRCh37	14	103803490	103803490	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	17	10	.	.	ENST00000216554.3:c.365G>C	p.Cys122Ser	p.C122S	ENST00000216554	NM_001969.4	122	tGt/tCt	0	1	1	UPI000012D3A5	0	getma.org/pdb.php?prot=IF5_HUMAN&from=1&to=130&var=C122S	ENST00000216554		ENSG00000100664	3299		27	3.88		HGNC	p.C122S		EIF5		SNV							ENST00000558316	protein_coding	getma.org/?cm=var&var=hg19,14,103803490,G,C&fts=all		Pfam_domain:PF01873,hmmpanther:PTHR23001,SMART_domains:SM00653,Superfamily_domains:SSF75689		C/S		C	high	1041/5945		getma.org/?cm=msa&ty=f&p=IF5_HUMAN&rb=1&re=130&var=C122S	deleterious(0)	H0YN40_HUMAN,H0YMJ8_HUMAN,H0YM54_HUMAN,H0YLZ1_HUMAN,H0YK29_HUMAN,H0YK11_HUMAN			YES	EIF5,missense_variant,p.Cys122Ser,ENST00000216554,NM_001969.4;EIF5,missense_variant,p.Cys122Ser,ENST00000558506,;EIF5,missense_variant,p.Cys122Ser,ENST00000392715,NM_183004.4;EIF5,missense_variant,p.Cys122Ser,ENST00000558265,;EIF5,missense_variant,p.Cys122Ser,ENST00000558316,;EIF5,downstream_gene_variant,,ENST00000560763,;EIF5,downstream_gene_variant,,ENST00000559532,;EIF5,downstream_gene_variant,,ENST00000559130,;EIF5,downstream_gene_variant,,ENST00000560338,;EIF5,downstream_gene_variant,,ENST00000561325,;SNORA28,upstream_gene_variant,,ENST00000606769,NR_002964.1;RP11-45P15.4,upstream_gene_variant,,ENST00000563989,;EIF5,non_coding_transcript_exon_variant,,ENST00000560200,;EIF5,downstream_gene_variant,,ENST00000560877,;EIF5,upstream_gene_variant,,ENST00000561406,;EIF5,non_coding_transcript_exon_variant,,ENST00000561439,;EIF5,non_coding_transcript_exon_variant,,ENST00000559923,;EIF5,non_coding_transcript_exon_variant,,ENST00000561023,;EIF5,upstream_gene_variant,,ENST00000561380,;EIF5,downstream_gene_variant,,ENST00000558551,;EIF5,downstream_gene_variant,,ENST00000559249,;EIF5,upstream_gene_variant,,ENST00000558800,;EIF5,upstream_gene_variant,,ENST00000559011,;							MODERATE	365/1296	C122S	IF5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216554		CCDS9980.1			1	
SRRM1	0	LGGM	GRCh37	1	24987843	24987843	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	28	10	.	.	ENST00000323848.9:c.1439A>C	p.Gln480Pro	p.Q480P	ENST00000323848	NM_005839.3	480	cAg/cCg	0	1	1	UPI000013EBEB	0	NA	ENST00000323848		ENSG00000133226	16638		38	1.555		HGNC	p.Q480P		SRRM1		SNV							ENST00000323848	protein_coding	getma.org/?cm=var&var=hg19,1,24987843,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23148		Q/P		C	low	1754/4011		getma.org/?cm=msa&ty=f&p=SRRM1_HUMAN&rb=319&re=518&var=Q480P		M0QXG5_HUMAN			YES	SRRM1,missense_variant,p.Gln480Pro,ENST00000323848,NM_005839.3;SRRM1,missense_variant,p.Gln478Pro,ENST00000447431,;SRRM1,missense_variant,p.Gln475Pro,ENST00000374389,;SRRM1,missense_variant,p.Gln439Pro,ENST00000596378,;SRRM1,3_prime_UTR_variant,,ENST00000537199,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,non_coding_transcript_exon_variant,,ENST00000496882,;SRRM1,non_coding_transcript_exon_variant,,ENST00000485541,;SRRM1,non_coding_transcript_exon_variant,,ENST00000461768,;SRRM1,downstream_gene_variant,,ENST00000488317,;							MODERATE	1439/2715	Q480P	SRRM1_HUMAN			Transcript		unknown(0)	.	ENSP00000326261		CCDS255.1			1	
ARHGDIB	0	LGGM	GRCh37	12	15102787	15102787	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	21	10	.	.	ENST00000228945.4:c.214C>T	p.Leu72Phe	p.L72F	ENST00000228945	NM_001175.4	72	Ctc/Ttc	0	1	1	UPI0000030441	0	getma.org/pdb.php?prot=GDIR2_HUMAN&from=1&to=198&var=L72F	ENST00000228945		ENSG00000111348	679		31	1.73		HGNC	p.L72F		ARHGDIB		SNV							ENST00000542276	protein_coding	getma.org/?cm=var&var=hg19,12,15102787,G,A&fts=all		Gene3D:2.70.50.30,Pfam_domain:PF02115,Prints_domain:PR00492,hmmpanther:PTHR10980,hmmpanther:PTHR10980:SF15,Superfamily_domains:SSF81296		L/F		A	low	359/1256		getma.org/?cm=msa&ty=f&p=GDIR2_HUMAN&rb=1&re=198&var=L72F	deleterious(0.01)	F5H6Q0_HUMAN,F5H3P3_HUMAN,F5H2R5_HUMAN			YES	ARHGDIB,missense_variant,p.Leu72Phe,ENST00000228945,NM_001175.4;ARHGDIB,missense_variant,p.Leu67Phe,ENST00000536592,;ARHGDIB,missense_variant,p.Leu72Phe,ENST00000541644,;ARHGDIB,missense_variant,p.Leu72Phe,ENST00000541546,;ARHGDIB,missense_variant,p.Leu72Phe,ENST00000545895,;ARHGDIB,missense_variant,p.Leu72Phe,ENST00000541380,;ARHGDIB,missense_variant,p.Leu72Phe,ENST00000542276,;ARHGDIB,upstream_gene_variant,,ENST00000539131,;ARHGDIB,non_coding_transcript_exon_variant,,ENST00000535676,;							MODERATE	214/606	L72F	GDIR2_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000228945		CCDS8671.1			1	
SERINC3	0	LGGM	GRCh37	20	43139994	43139994	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	24	11	.	.	ENST00000342374.4:c.411A>C	p.Lys137Asn	p.K137N	ENST00000342374	NM_006811.2	137	aaA/aaC	0	1		UPI0000136B4D	0	NA	ENST00000255175		ENSG00000132824	11699		35	3.925		HGNC	p.K82N		SERINC3		SNV							ENST00000541235	protein_coding	getma.org/?cm=var&var=hg19,20,43139994,T,G&fts=all		Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF13,Transmembrane_helices:TMhelix		K/N		G	high	545/1726		getma.org/?cm=msa&ty=f&p=SERC3_HUMAN&rb=15&re=472&var=K137N	deleterious(0)	Q5H936_HUMAN,B4DUE9_HUMAN				SERINC3,missense_variant,p.Lys137Asn,ENST00000342374,NM_006811.2;SERINC3,missense_variant,p.Lys137Asn,ENST00000255175,NM_198941.1;SERINC3,missense_variant,p.Lys82Asn,ENST00000541235,;SERINC3,downstream_gene_variant,,ENST00000468234,;							MODERATE	411/1422	K137N	SERC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000255175		CCDS13333.1			1	
ANKRD32	0	LGGM	GRCh37	5	94027343	94027343	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	25	11	.	.	ENST00000265140.5:c.2494A>G	p.Ile832Val	p.I832V	ENST00000265140	NM_032290.3	832	Ata/Gta	0	1	1	UPI000066D9F9	0	getma.org/pdb.php?prot=ANR32_HUMAN&from=783&to=871&var=I832V	ENST00000265140		ENSG00000133302	25408		36	1.15		HGNC	p.I832V	rs774546491	ANKRD32	6.08E-05	SNV							ENST00000265140	protein_coding	getma.org/?cm=var&var=hg19,5,94027343,A,G&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		I/V		G	low	2913/5905		getma.org/?cm=msa&ty=f&p=ANR32_HUMAN&rb=783&re=871&var=I832V	tolerated(0.15)	I6L9F1_HUMAN,D6RED9_HUMAN			YES	ANKRD32,missense_variant,p.Ile832Val,ENST00000265140,NM_032290.3;ANKRD32,upstream_gene_variant,,ENST00000493934,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000450932,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000475916,;							MODERATE	2494/3177	I832V	ANR32_HUMAN			Transcript		benign(0.052)	.	ENSP00000265140	8.24E-06	CCDS4071.2			1	
UNC79	0	LGGM	GRCh37	14	94079189	94079189	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	57	11	.	.	ENST00000256339.4:c.3270A>T	p.Pro1090=	p.P1090=	ENST00000256339	NM_020818.3	1090	ccA/ccT	0	1		UPI00021CF3DC	0		ENST00000393151		ENSG00000133958	19966		68			HGNC	p.P1090P		UNC79		SNV							ENST00000256339	protein_coding			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		P		T		3801/7908								UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;							LOW	3801/7908		UNC79_HUMAN			Transcript			.	ENSP00000376858					1	
ZBBX	0	LGGM	GRCh37	3	167051619	167051619	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	42	11	.	.	ENST00000455345.2:c.683C>T	p.Ser228Phe	p.S228F	ENST00000455345		228	tCt/tTt	0	1		UPI000020A743	0	NA	ENST00000392766		ENSG00000169064	26245		53	1.445		HGNC	p.S228F		ZBBX		SNV							ENST00000307529	protein_coding	getma.org/?cm=var&var=hg19,3,167051619,G,A&fts=all				S/F		A	low	1024/3250		getma.org/?cm=msa&ty=f&p=ZBBX_HUMAN&rb=176&re=330&var=S228F	deleterious(0)	F2Z370_HUMAN,C9JVV2_HUMAN				ZBBX,missense_variant,p.Ser228Phe,ENST00000392766,NM_001199201.1,NM_024687.3;ZBBX,missense_variant,p.Ser228Phe,ENST00000455345,;ZBBX,missense_variant,p.Ser228Phe,ENST00000307529,;ZBBX,missense_variant,p.Ser228Phe,ENST00000392767,;ZBBX,missense_variant,p.Ser199Phe,ENST00000392764,NM_001199202.1;ZBBX,intron_variant,,ENST00000469220,;							MODERATE	683/2403	S228F	ZBBX_HUMAN			Transcript		benign(0.217)	.	ENSP00000376519		CCDS3199.2			1	
MATN4	0	LGGM	GRCh37	20	43932907	43932907	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	20	11	.	.	ENST00000537548.1:c.604A>C	p.Ile202Leu	p.I202L	ENST00000537548	NM_003833.4	202	Atc/Ctc	0	1		UPI00004708AD	0	getma.org/pdb.php?prot=MATN4_HUMAN&from=34&to=213&var=I202L	ENST00000372754		ENSG00000124159	6910		31	0.65		HGNC	p.I202L		MATN4		SNV							ENST00000353917	protein_coding	getma.org/?cm=var&var=hg19,20,43932907,T,G&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF16,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		I/L		G	neutral	613/2200		getma.org/?cm=msa&ty=f&p=MATN4_HUMAN&rb=34&re=213&var=I202L						MATN4,missense_variant,p.Ile202Leu,ENST00000537548,NM_003833.4;MATN4,missense_variant,p.Ile202Leu,ENST00000342716,;MATN4,missense_variant,p.Ile202Leu,ENST00000372754,;MATN4,missense_variant,p.Ile202Leu,ENST00000360607,NM_030590.3;MATN4,missense_variant,p.Ile202Leu,ENST00000372756,;MATN4,missense_variant,p.Ile202Leu,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,;							MODERATE	604/1869	I202L	MATN4_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000361840					1	
CUBN	0	LGGM	GRCh37	10	16957993	16957993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	61	12	.	.	ENST00000377833.4:c.7037T>C	p.Val2346Ala	p.V2346A	ENST00000377833	NM_001081.3	2346	gTt/gCt	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=2336&to=2445&var=V2346A	ENST00000377833		ENSG00000107611	2548		73	2.265		HGNC	p.V2346A		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,16957993,A,G&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		V/A		G	medium	7103/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=2336&re=2445&var=V2346A	tolerated(0.07)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Val2346Ala,ENST00000377833,NM_001081.3;							MODERATE	7037/10872	V2346A	CUBN_HUMAN			Transcript		possibly_damaging(0.648)	.	ENSP00000367064		CCDS7113.1			1	
HEATR5B	0	LGGM	GRCh37	2	37299405	37299405	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	27	12	.	.	ENST00000233099.5:c.617A>G	p.Asn206Ser	p.N206S	ENST00000233099	NM_019024.1	206	aAt/aGt	0	1	1	UPI0000160DCD	0	NA	ENST00000233099		ENSG00000008869	29273		39	1.21		HGNC	p.N206S		HEATR5B		SNV							ENST00000354531	protein_coding	getma.org/?cm=var&var=hg19,2,37299405,T,C&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371		N/S		C	low	713/6905		getma.org/?cm=msa&ty=f&p=HTR5B_HUMAN&rb=201&re=400&var=N206S	tolerated(0.32)				YES	HEATR5B,missense_variant,p.Asn206Ser,ENST00000233099,NM_019024.1;HEATR5B,missense_variant,p.Asn206Ser,ENST00000354531,;HEATR5B,non_coding_transcript_exon_variant,,ENST00000478810,;							MODERATE	617/6216	N206S	HTR5B_HUMAN			Transcript		benign(0.005)	.	ENSP00000233099		CCDS33181.1			1	
PMS2	0	LGGM	GRCh37	7	6017329	6017329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	56	12	.	.	ENST00000265849.7:c.2335G>A	p.Gly779Arg	p.G779R	ENST00000265849	NM_000535.5	779	Gga/Aga	0	1	1	UPI000013D696	0	NA	ENST00000265849	uncertain_significance	ENSG00000122512	9122		68	3.585		HGNC	p.G732R	rs587780053	PMS2		SNV			1			1	ENST00000382322	protein_coding	getma.org/?cm=var&var=hg19,7,6017329,C,T&fts=all		Superfamily_domains:0050888,SMART_domains:SM00853,Pfam_domain:PF08676,hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9		G/R		T	high	2441/2855	1.51E-05	getma.org/?cm=msa&ty=f&p=PMS2_HUMAN&rb=675&re=822&var=G779R	deleterious(0)				YES	PMS2,missense_variant,p.Gly779Arg,ENST00000265849,NM_000535.5;PMS2,missense_variant,p.Gly673Arg,ENST00000441476,;PMS2,missense_variant,p.Gly378Arg,ENST00000382321,;PMS2,synonymous_variant,p.=,ENST00000406569,;							MODERATE	2335/2589	G779R	PMS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265849	8.26E-06	CCDS5343.1			1	
CAND2	0	LGGM	GRCh37	3	12867116	12867116	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	10	12	.	.	ENST00000456430.2:c.3188T>C	p.Ile1063Thr	p.I1063T	ENST00000456430	NM_001162499.1	1063	aTc/aCc	0	1	1	UPI00005795FA	0	getma.org/pdb.php?prot=CAND2_HUMAN&from=1044&to=1210&var=I1063T	ENST00000456430		ENSG00000144712	30689		22	2.82		HGNC	p.I1063T		CAND2		SNV							ENST00000456430	protein_coding	getma.org/?cm=var&var=hg19,3,12867116,T,C&fts=all		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Pfam_domain:PF08623,Superfamily_domains:SSF48371		I/T		C	medium	3229/4573		getma.org/?cm=msa&ty=f&p=CAND2_HUMAN&rb=1044&re=1210&var=I1063T	deleterious(0.03)				YES	CAND2,missense_variant,p.Ile1063Thr,ENST00000456430,NM_001162499.1;CAND2,missense_variant,p.Ile946Thr,ENST00000295989,NM_012298.2;CAND2,upstream_gene_variant,,ENST00000454887,;							MODERATE	3188/3711	I1063T	CAND2_HUMAN			Transcript		benign(0.201)	.	ENSP00000387641		CCDS54554.1			1	
PCDHGA2	0	LGGM	GRCh37	5	140719883	140719883	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	42	12	.	.	ENST00000394576.2:c.1345G>A	p.Ala449Thr	p.A449T	ENST00000394576	NM_018915.2	449	Gca/Aca	0	1	1	UPI0000072E67	0	getma.org/pdb.php?prot=PCDG2_HUMAN&from=348&to=452&var=A449T	ENST00000394576		ENSG00000081853	8700		54	1.72		HGNC	p.A449T	rs770680401	PCDHGA2	6.06E-05	SNV							ENST00000394576	protein_coding	getma.org/?cm=var&var=hg19,5,140719883,G,A&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/T		A	low	1345/4605		getma.org/?cm=msa&ty=f&p=PCDG2_HUMAN&rb=348&re=452&var=A449T	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA2,missense_variant,p.Ala449Thr,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,;							MODERATE	1345/2799	A449T	PCDG2_HUMAN			Transcript		benign(0.302)	.	ENSP00000378077	8.24E-06	CCDS47289.1			1	
OR51M1	0	LGGM	GRCh37	11	5411592	5411592	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	27	13	.	.	ENST00000328611.3:c.964A>G	p.Lys322Glu	p.K322E	ENST00000328611	NM_001004756.2	322	Aaa/Gaa	0	1	1	UPI000066D8EB	0	NA	ENST00000328611		ENSG00000184698	14847		40	1.28		HGNC	p.K322E		OR51M1		SNV							ENST00000328611	protein_coding	getma.org/?cm=var&var=hg19,11,5411592,A,G&fts=all		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF44,Superfamily_domains:SSF81321		K/E		G	low	986/1058		getma.org/?cm=msa&ty=f&p=O51M1_HUMAN&rb=257&re=315&var=K311E	tolerated(0.07)				YES	OR51M1,missense_variant,p.Lys322Glu,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,;							MODERATE	964/981	K311E	O51M1_HUMAN			Transcript		benign(0.002)	.	ENSP00000333196		CCDS53596.1			1	
SYNDIG1	0	LGGM	GRCh37	20	24524182	24524182	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	46	13	.	.	ENST00000376862.3:c.449T>C	p.Val150Ala	p.V150A	ENST00000376862	NM_024893.2	150	gTg/gCg	0	1	1	UPI00001285DC	0	NA	ENST00000376862		ENSG00000101463	15885		59	2.25		HGNC	p.V150A		SYNDIG1		SNV							ENST00000376862	protein_coding	getma.org/?cm=var&var=hg19,20,24524182,T,C&fts=all		hmmpanther:PTHR14768,hmmpanther:PTHR14768:SF3		V/A		C	medium	1082/2522		getma.org/?cm=msa&ty=f&p=SYNG1_HUMAN&rb=1&re=200&var=V150A	deleterious(0.01)				YES	SYNDIG1,missense_variant,p.Val150Ala,ENST00000376862,NM_024893.2;							MODERATE	449/777	V150A	SYNG1_HUMAN			Transcript		benign(0.156)	.	ENSP00000366058		CCDS13164.1			1	
OR4E2	0	LGGM	GRCh37	14	22133827	22133827	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	41	14	.	.	ENST00000408935.1:c.531C>T	p.Tyr177=	p.Y177=	ENST00000408935	NM_001001912.1	177	taC/taT	0	1	1	UPI0000041D88	0		ENST00000408935		ENSG00000221977	8297		55			HGNC	p.Y177Y		OR4E2		SNV							ENST00000408935	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF160,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		Y		T		531/942							YES	OR4E2,synonymous_variant,p.=,ENST00000408935,NM_001001912.1;OR4E1,downstream_gene_variant,,ENST00000413808,;OR4E1,downstream_gene_variant,,ENST00000303519,;							LOW	531/942		OR4E2_HUMAN			Transcript			.	ENSP00000386195		CCDS41916.1			1	
ZNF658	0	LGGM	GRCh37	9	40774181	40774181	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	249	14	.	.	ENST00000602553.1:c.1094A>C	p.Lys365Thr	p.K365T	ENST00000602553		365	aAa/aCa	0	1	1	UPI000046D388	0	getma.org/pdb.php?prot=Z658B_HUMAN&from=1&to=199&var=K121T	ENST00000602553		ENSG00000196409	25226		263	1.485		HGNC	p.K363T		ZNF658		SNV							ENST00000441795	protein_coding	getma.org/?cm=var&var=hg19,9,40774181,T,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,Superfamily_domains:SSF57667		K/T		G	low	1389/4155		getma.org/?cm=msa&ty=f&p=Z658B_HUMAN&rb=1&re=199&var=K121T	deleterious(0.03)	B3KNB1_HUMAN			YES	ZNF658,missense_variant,p.Lys365Thr,ENST00000602553,;ZNF658,missense_variant,p.Lys365Thr,ENST00000377626,NM_033160.5;ZNF658,missense_variant,p.Lys363Thr,ENST00000441795,;ZNF658,missense_variant,p.Lys365Thr,ENST00000479710,;							MODERATE	1094/3180	K121T	ZN658_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000473484		CCDS35023.1			1	
UGT1A9	0	LGGM	GRCh37	2	234581176	234581176	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	170	15	.	.	ENST00000354728.4:c.596A>C	p.Asp199Ala	p.D199A	ENST00000354728		199	gAt/gCt	0	1	1	UPI0000044213	0	NA	ENST00000354728		ENSG00000241119	12541		185	3.435		HGNC	p.D199A		UGT1A9		SNV							ENST00000354728	protein_coding	getma.org/?cm=var&var=hg19,2,234581176,A,C&fts=all		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756		D/A		C	medium	678/2416		getma.org/?cm=msa&ty=f&p=UD19_HUMAN&rb=26&re=521&var=D199A	deleterious(0)	Q5DSZ5_HUMAN,Q53E75_HUMAN,A9UKF4_HUMAN			YES	UGT1A9,missense_variant,p.Asp199Ala,ENST00000354728,;UGT1A8,missense_variant,p.Asp199Ala,ENST00000609637,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A10,intron_variant,,ENST00000373445,;							MODERATE	596/1593	D199A	UD19_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000346768		CCDS2505.1			1	
NUP188	0	LGGM	GRCh37	9	131750394	131750394	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	52	15	.	.	ENST00000372577.2:c.2462C>T	p.Thr821Ile	p.T821I	ENST00000372577	NM_015354.2	821	aCc/aTc	0	1	1	UPI000041A60F	0	NA	ENST00000372577		ENSG00000095319	17859		67	0.805		HGNC	p.T821I		NUP188		SNV							ENST00000372577	protein_coding	getma.org/?cm=var&var=hg19,9,131750394,C,T&fts=all		hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Pfam_domain:PF10487		T/I		T	low	2483/5689		getma.org/?cm=msa&ty=f&p=NU188_HUMAN&rb=27&re=944&var=T821I	tolerated(0.59)				YES	NUP188,missense_variant,p.Thr821Ile,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,;							MODERATE	2462/5250	T821I	NU188_HUMAN			Transcript		benign(0.151)	.	ENSP00000361658		CCDS35156.1			1	
L2HGDH	0	LGGM	GRCh37	14	50750673	50750673	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	30	15	.	.	ENST00000267436.4:c.619C>T	p.Gln207Ter	p.Q207*	ENST00000267436		207	Caa/Taa	0	1	1	UPI0000048F63	0	NA	ENST00000267436		ENSG00000087299	20499		45	0		HGNC	p.Q207X		L2HGDH		SNV			1				ENST00000267436	protein_coding	getma.org/?cm=var&var=hg19,14,50750673,G,A&fts=all		hmmpanther:PTHR13847:SF171,hmmpanther:PTHR13847,Pfam_domain:PF01266,Gene3D:3.50.50.60,Superfamily_domains:SSF51905		Q/*		A	NA	1017/3446		NA					YES	L2HGDH,stop_gained,p.Gln207Ter,ENST00000267436,;L2HGDH,stop_gained,p.Gln207Ter,ENST00000421284,NM_024884.2;L2HGDH,stop_gained,p.Gln207Ter,ENST00000261699,;L2HGDH,stop_gained,p.Gln207Ter,ENST00000555423,;L2HGDH,3_prime_UTR_variant,,ENST00000555610,;							HIGH	619/1392	Q207*	L2HDH_HUMAN			Transcript			.	ENSP00000267436		CCDS9698.1			1	
ABCA13	0	LGGM	GRCh37	7	48313641	48313641	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	144	15	.	.	ENST00000435803.1:c.4378A>G	p.Asn1460Asp	p.N1460D	ENST00000435803	NM_152701.3	1460	Aat/Gat	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		159	1.59		HGNC	p.N1460D		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48313641,A,G&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		N/D		G	low	4402/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=1401&re=1600&var=N1460D					YES	ABCA13,missense_variant,p.Asn1460Asp,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							MODERATE	4378/15177	N1460D	ABCAD_HUMAN			Transcript		benign(0.012)	.	ENSP00000411096		CCDS47584.1			1	
HOXA7	0	LGGM	GRCh37	7	27195934	27195934	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	13	16	.	.	ENST00000242159.3:c.231C>A	p.Tyr77Ter	p.Y77*	ENST00000242159	NM_006896.3	77	taC/taA	0	1	1	UPI000013CAF3	0	NA	ENST00000242159		ENSG00000122592	5108		29	0		HGNC	p.Y77X		HOXA7		SNV							ENST00000242159	protein_coding	getma.org/?cm=var&var=hg19,7,27195934,G,T&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF163		Y/*		T	NA	365/2020		NA		E5RHM9_HUMAN			YES	HOXA7,stop_gained,p.Tyr77Ter,ENST00000242159,NM_006896.3;HOXA7,downstream_gene_variant,,ENST00000519842,;RP1-170O19.21,upstream_gene_variant,,ENST00000602610,;HOXA-AS3,downstream_gene_variant,,ENST00000518947,;HOXA-AS3,downstream_gene_variant,,ENST00000524304,;HOXA-AS3,downstream_gene_variant,,ENST00000521197,;HOXA-AS3,downstream_gene_variant,,ENST00000521231,;HOXA-AS3,downstream_gene_variant,,ENST00000518848,;RP1-170O19.22,upstream_gene_variant,,ENST00000467897,;HOXA3,upstream_gene_variant,,ENST00000518451,;HOXA7,upstream_gene_variant,,ENST00000523796,;RP1-170O19.23,upstream_gene_variant,,ENST00000498652,;							HIGH	231/693	Y77*	HXA7_HUMAN			Transcript			.	ENSP00000242159		CCDS5408.1			1	
POTEH	0	LGGM	GRCh37	22	16267075	16267075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	56	16	.	.	ENST00000343518.6:c.1374G>T	p.Lys458Asn	p.K458N	ENST00000343518	NM_001136213.1	458	aaG/aaT	0	1	1	UPI0000E5A425	0	NA	ENST00000343518		ENSG00000198062	133		72	1.04		HGNC	p.K458N		POTEH		SNV							ENST00000343518	protein_coding	getma.org/?cm=var&var=hg19,22,16267075,C,A&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		K/N		A	low	1426/1928		getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=452&re=504&var=K458N	deleterious(0)				YES	POTEH,missense_variant,p.Lys458Asn,ENST00000343518,NM_001136213.1;POTEH,3_prime_UTR_variant,,ENST00000452800,;							MODERATE	1374/1638	K458N	POTEH_HUMAN			Transcript		possibly_damaging(0.662)	.	ENSP00000340610		CCDS46658.1			1	
ANKRD11	0	LGGM	GRCh37	16	89352515	89352515	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	30	16	.	.	ENST00000301030.4:c.824A>C	p.Asn275Thr	p.N275T	ENST00000301030	NM_001256183.1	275	aAc/aCc	0	1	1	UPI00004569E1	0	getma.org/pdb.php?prot=ANR11_HUMAN&from=208&to=293&var=N275T	ENST00000301030		ENSG00000167522	21316		46	0.87		HGNC	p.N275T		ANKRD11		SNV			1				ENST00000301030	protein_coding	getma.org/?cm=var&var=hg19,16,89352515,T,G&fts=all		hmmpanther:PTHR24145,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		N/T		G	low	1285/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=208&re=293&var=N275T					YES	ANKRD11,missense_variant,p.Asn275Thr,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Asn275Thr,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000564553,;							MODERATE	824/7992	N275T	ANR11_HUMAN			Transcript		benign(0.038)	.	ENSP00000301030		CCDS32513.1			1	
NOTCH2	0	LGGM	GRCh37	1	120468013	120468013	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	56	16	.	.	ENST00000256646.2:c.4426A>G	p.Ile1476Val	p.I1476V	ENST00000256646	NM_024408.3	1476	Atc/Gtc	0	1	1	UPI000013CF1D	0	getma.org/pdb.php?prot=NOTC2_HUMAN&from=1461&to=1497&var=I1476V	ENST00000256646		ENSG00000134250	7882		72	1.39		HGNC	p.I1476V		NOTCH2		SNV			1				ENST00000256646	protein_coding	getma.org/?cm=var&var=hg19,1,120468013,T,C&fts=all		Pfam_domain:PF00066,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50258,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4,SMART_domains:SM00004		I/V		C	low	4646/11389		getma.org/?cm=msa&ty=f&p=NOTC2_HUMAN&rb=1461&re=1497&var=I1476V	deleterious(0.02)	Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,missense_variant,p.Ile1476Val,ENST00000256646,NM_024408.3;NOTCH2,upstream_gene_variant,,ENST00000493703,;							MODERATE	4426/7416	I1476V	NOTC2_HUMAN			Transcript		benign(0.171)	.	ENSP00000256646		CCDS908.1			1	
RAPGEF5	0	LGGM	GRCh37	7	22184783	22184783	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	91	17	.	.	ENST00000344041.6:c.1606C>G	p.Leu536Val	p.L536V	ENST00000344041	NM_012294.3	536	Ctc/Gtc	0	1		UPI0000072E3E	0	getma.org/pdb.php?prot=RPGF5_HUMAN&from=342&to=526&var=L386V	ENST00000401957		ENSG00000136237	16862		108	1.95		HGNC	p.L536V		RAPGEF5		SNV							ENST00000344041	protein_coding	getma.org/?cm=var&var=hg19,7,22184783,G,C&fts=all		Superfamily_domains:0041591,Gene3D:2ii0A02,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF26,SMART_domains:SM00147		L/V		C	medium	1404/6159		getma.org/?cm=msa&ty=f&p=RPGF5_HUMAN&rb=342&re=526&var=L386V	deleterious(0)	C9JBS6_HUMAN				RAPGEF5,missense_variant,p.Leu536Val,ENST00000344041,NM_012294.3;RAPGEF5,missense_variant,p.Leu386Val,ENST00000401957,;RAPGEF5,non_coding_transcript_exon_variant,,ENST00000468825,;							MODERATE	1156/1743	L386V	RPGF5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000384044					1	
CHRDL2	0	LGGM	GRCh37	11	74429895	74429895	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	46	20	.	.	ENST00000263671.5:c.83-18C>T		*28*	ENST00000263671	NM_015424.4			0	1		UPI0000039F09	0		ENST00000376332		ENSG00000054938	24168		66			HGNC	p.A2V	rs759069350	CHRDL2		SNV							ENST00000376324	protein_coding							A		-/1867								CHRDL2,intron_variant,,ENST00000376332,NM_001278473.1;CHRDL2,intron_variant,,ENST00000263671,NM_015424.4;CHRDL2,intron_variant,,ENST00000528789,;MIR4696,downstream_gene_variant,,ENST00000581431,;SNORD43,upstream_gene_variant,,ENST00000390975,;CHRDL2,intron_variant,,ENST00000534159,;CHRDL2,missense_variant,p.Ala2Val,ENST00000376324,;CHRDL2,missense_variant,p.Ala2Val,ENST00000534276,;CHRDL2,missense_variant,p.Ala2Val,ENST00000528471,;	0.000275						MODIFIER	-/1290		CRDL2_HUMAN			Transcript			.	ENSP00000365510	1.65E-05	CCDS60893.1			1	
PRUNE2	0	LGGM	GRCh37	9	79253204	79253204	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	77	20	.	.	ENST00000376718.3:c.8729G>T	p.Gly2910Val	p.G2910V	ENST00000376718	NM_015225.2	2910	gGa/gTa	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		97	3.13		HGNC	p.G2910V		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79253204,C,A&fts=all		PROSITE_profiles:PS50191,hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF12496,SMART_domains:SM00516		G/V		A	medium	8853/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=2797&re=2915&var=G2910V	deleterious(0)				YES	PRUNE2,missense_variant,p.Gly2552Val,ENST00000428286,;PRUNE2,missense_variant,p.Gly2910Val,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Gly2235Val,ENST00000426088,;PRUNE2,missense_variant,p.Gly175Val,ENST00000376717,;PRUNE2,missense_variant,p.Gly159Val,ENST00000443509,;PRUNE2,missense_variant,p.Gly175Val,ENST00000223609,;PRUNE2,missense_variant,p.Gly83Val,ENST00000424866,;PRUNE2,splice_region_variant,,ENST00000466266,;PRUNE2,downstream_gene_variant,,ENST00000494975,;							MODERATE	8729/9267	G2910V	PRUN2_HUMAN			Transcript		possibly_damaging(0.712)	.	ENSP00000365908		CCDS47982.1			1	
ANKRD13A	0	LGGM	GRCh37	12	110465558	110465558	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	75	20	.	.	ENST00000261739.4:c.932T>C	p.Phe311Ser	p.F311S	ENST00000261739	NM_033121.1	311	tTt/tCt	0	1	1	UPI000004472C	0	NA	ENST00000261739		ENSG00000076513	21268		95	1.01		HGNC	p.F82S		ANKRD13A		SNV							ENST00000546476	protein_coding	getma.org/?cm=var&var=hg19,12,110465558,T,C&fts=all		hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4,Pfam_domain:PF11904		F/S		C	low	1098/4148		getma.org/?cm=msa&ty=f&p=AN13A_HUMAN&rb=156&re=471&var=F311S	tolerated(0.42)	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN			YES	ANKRD13A,missense_variant,p.Phe311Ser,ENST00000261739,NM_033121.1;ANKRD13A,missense_variant,p.Phe164Ser,ENST00000547639,;C12orf76,downstream_gene_variant,,ENST00000546651,;ANKRD13A,upstream_gene_variant,,ENST00000547419,;ANKRD13A,upstream_gene_variant,,ENST00000551491,;ANKRD13A,3_prime_UTR_variant,,ENST00000553025,;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000546476,;ANKRD13A,upstream_gene_variant,,ENST00000553251,;ANKRD13A,upstream_gene_variant,,ENST00000549826,;							MODERATE	932/1773	F311S	AN13A_HUMAN			Transcript		possibly_damaging(0.505)	.	ENSP00000261739		CCDS9140.1			1	
ZNF804B	0	LGGM	GRCh37	7	88965877	88965877	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	33	20	.	.	ENST00000333190.4:c.3581C>A	p.Thr1194Asn	p.T1194N	ENST00000333190	NM_181646.2	1194	aCc/aAc	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		53	0.345		HGNC	p.T1194N		ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88965877,C,A&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		T/N		A	neutral	4190/4659		getma.org/?cm=msa&ty=f&p=Z804B_HUMAN&rb=1130&re=1347&var=T1194N	deleterious(0)				YES	ZNF804B,missense_variant,p.Thr1194Asn,ENST00000333190,NM_181646.2;							MODERATE	3581/4050	T1194N	Z804B_HUMAN			Transcript		possibly_damaging(0.451)	.	ENSP00000329638		CCDS5613.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121652709	121652709	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	113	21	.	.	ENST00000393386.2:c.3609C>T	p.Pro1203=	p.P1203=	ENST00000393386	NM_001206838.1	1203	ccC/ccT	0	1	1	UPI000020F9BB	0		ENST00000393386		ENSG00000106278	9685		134			HGNC	p.P1203P		PTPRZ1		SNV							ENST00000393386	protein_coding			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214		P		T		4020/8175							YES	PTPRZ1,synonymous_variant,p.=,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,intron_variant,,ENST00000483028,;							LOW	3609/6948		PTPRZ_HUMAN			Transcript			.	ENSP00000377047		CCDS34740.1			1	
NR3C2	0	LGGM	GRCh37	4	149356606	149356606	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	40	21	.	.	ENST00000358102.3:c.1407A>G	p.Leu469=	p.L469=	ENST00000358102	NM_001166104.1	469	ctA/ctG	0	1		UPI000013DC6D	0		ENST00000344721		ENSG00000151623	7979		61			HGNC	p.L469L	rs748690164	NR3C2		SNV			1	9.62E-05			ENST00000344721	protein_coding			hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF22		L		C		1582/5712				Q4W5E8_HUMAN,B0ZBF6_HUMAN				NR3C2,synonymous_variant,p.=,ENST00000355292,;NR3C2,synonymous_variant,p.=,ENST00000358102,NM_001166104.1,NM_000901.4;NR3C2,synonymous_variant,p.=,ENST00000344721,;NR3C2,synonymous_variant,p.=,ENST00000512865,;NR3C2,synonymous_variant,p.=,ENST00000511528,;NR3C2,synonymous_variant,p.=,ENST00000342437,;							LOW	1407/2955					Transcript			.	ENSP00000341390	8.24E-06	CCDS3772.1			1	
RANBP3L	0	LGGM	GRCh37	5	36301472	36301472	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	32	22	.	.	ENST00000502994.1:c.47T>C	p.Leu16Ser	p.L16S	ENST00000502994	NM_001161429.1	16	tTg/tCg	0	1		UPI000020C984	0	NA	ENST00000296604		ENSG00000164188	26353		54	0.205		HGNC	p.L16S		RANBP3L		SNV							ENST00000505865	protein_coding	getma.org/?cm=var&var=hg19,5,36301472,A,G&fts=all		hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF88		L/S		G	neutral	533/3104		getma.org/?cm=msa&ty=f&p=RNB3L_HUMAN&rb=1&re=32&var=L16S	tolerated_low_confidence(0.32)	D6RCM9_HUMAN				RANBP3L,missense_variant,p.Leu16Ser,ENST00000296604,NM_145000.3;RANBP3L,missense_variant,p.Leu16Ser,ENST00000502994,NM_001161429.1;RANBP3L,missense_variant,p.Leu16Ser,ENST00000515759,;RANBP3L,missense_variant,p.Leu16Ser,ENST00000505865,;							MODERATE	47/1398	L16S	RNB3L_HUMAN			Transcript		benign(0.007)	.	ENSP00000296604		CCDS3918.1			1	
TFB1M	0	LGGM	GRCh37	6	155579136	155579136	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	80	23	.	.	ENST00000367166.4:c.875C>A	p.Pro292His	p.P292H	ENST00000367166	NM_016020.3	292	cCc/cAc	0	1	1	UPI000003B01A	0	getma.org/pdb.php?prot=TFB1M_HUMAN&from=26&to=309&var=P292H	ENST00000367166		ENSG00000029639	17037		103	3.175		HGNC	p.P292H		TFB1M		SNV			1				ENST00000367166	protein_coding	getma.org/?cm=var&var=hg19,6,155579136,G,T&fts=all		HAMAP:MF_00607,PROSITE_profiles:PS51689,hmmpanther:PTHR11727,hmmpanther:PTHR11727:SF10,Gene3D:1.10.8.100,Superfamily_domains:SSF53335		P/H		T	medium	931/1424		getma.org/?cm=msa&ty=f&p=TFB1M_HUMAN&rb=26&re=309&var=P292H	deleterious(0)	E5KTM5_HUMAN			YES	TFB1M,missense_variant,p.Pro292His,ENST00000367166,NM_016020.3;TIAM2,downstream_gene_variant,,ENST00000461783,;TIAM2,downstream_gene_variant,,ENST00000456144,;TIAM2,downstream_gene_variant,,ENST00000367174,;TIAM2,downstream_gene_variant,,ENST00000318981,NM_012454.3;TIAM2,downstream_gene_variant,,ENST00000360366,;TIAM2,downstream_gene_variant,,ENST00000529824,;TIAM2,downstream_gene_variant,,ENST00000528391,;TIAM2,downstream_gene_variant,,ENST00000456877,;TIAM2,downstream_gene_variant,,ENST00000275246,NM_001010927.2;RP11-477D19.2,upstream_gene_variant,,ENST00000435295,;TFB1M,non_coding_transcript_exon_variant,,ENST00000495806,;TFB1M,intron_variant,,ENST00000468889,;TFB1M,intron_variant,,ENST00000470239,;TFB1M,downstream_gene_variant,,ENST00000489874,;TIAM2,downstream_gene_variant,,ENST00000537845,;							MODERATE	875/1041	P292H	TFB1M_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356134		CCDS5248.1			1	
NUP133	0	LGGM	GRCh37	1	229580657	229580674	+	splice_donor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	TTACCATCTTTTAAAAGT	TTACCATCTTTTAAAAGT	-	novel	by Submitter	H071591	H071591N.bam	TTACCATCTTTTAAAAGT	TTACCATCTTTTAAAAGT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	68	24	.	.	ENST00000261396.3:c.3321_3334+4del		p.X1107_splice	ENST00000261396	NM_018230.2	1107		0	1	1	UPI000013D17A	0		ENST00000261396		ENSG00000069248	18016		92			HGNC	p.1091_1096del		NUP133		deletion							ENST00000537506	protein_coding							-		3413-?/4169							YES	NUP133,splice_donor_variant,,ENST00000261396,NM_018230.2;NUP133,splice_donor_variant,,ENST00000537506,;RP5-1068B5.3,upstream_gene_variant,,ENST00000434311,;NUP133,splice_donor_variant,,ENST00000490352,;NUP133,downstream_gene_variant,,ENST00000485119,;							HIGH	3321-?/3471		NU133_HUMAN			Transcript			.	ENSP00000261396		CCDS1579.1			1	
ZNF804B	0	LGGM	GRCh37	7	88965884	88965884	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	33	24	.	.	ENST00000333190.4:c.3588G>A	p.Gln1196=	p.Q1196=	ENST00000333190	NM_181646.2	1196	caG/caA	0	1	1	UPI00001A92D2	0		ENST00000333190		ENSG00000182348	21958		57			HGNC	p.Q1196Q		ZNF804B		SNV							ENST00000333190	protein_coding			hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		Q		A		4197/4659							YES	ZNF804B,synonymous_variant,p.=,ENST00000333190,NM_181646.2;							LOW	3588/4050		Z804B_HUMAN			Transcript			.	ENSP00000329638		CCDS5613.1			1	
BBS9	0	LGGM	GRCh37	7	33644515	33644515	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	144	24	.	.	ENST00000242067.6:c.2560A>G	p.Arg854Gly	p.R854G	ENST00000242067	NM_198428.2	854	Aga/Gga	0	1	1	UPI000020ED57	0	NA	ENST00000242067		ENSG00000122507	30000		168	0.69		HGNC	p.R819G		BBS9		SNV			1				ENST00000396127	protein_coding	getma.org/?cm=var&var=hg19,7,33644515,A,G&fts=all		hmmpanther:PTHR20991,hmmpanther:PTHR20991:SF0		R/G		G	neutral	3081/4027		getma.org/?cm=msa&ty=f&p=PTHB1_HUMAN&rb=111&re=885&var=R854G	tolerated_low_confidence(0.06)	C9JRR5_HUMAN,C9JJ08_HUMAN			YES	BBS9,missense_variant,p.Arg854Gly,ENST00000242067,NM_198428.2;BBS9,missense_variant,p.Arg849Gly,ENST00000355070,NM_001033605.1;BBS9,missense_variant,p.Arg819Gly,ENST00000396127,NM_001033604.1;BBS9,missense_variant,p.Arg819Gly,ENST00000354265,;BBS9,missense_variant,p.Arg814Gly,ENST00000350941,NM_014451.3;BBS9,missense_variant,p.Arg421Gly,ENST00000434373,;BBS9,non_coding_transcript_exon_variant,,ENST00000489708,;BBS9,3_prime_UTR_variant,,ENST00000433714,;BBS9,non_coding_transcript_exon_variant,,ENST00000498189,;							MODERATE	2560/2664	R854G	PTHB1_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000242067		CCDS43566.1			1	
CPVL	0	LGGM	GRCh37	7	29070257	29070257	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	173	24	.	.	ENST00000409850.1:c.1256G>A	p.Trp419Ter	p.W419*	ENST00000409850		419	tGg/tAg	0	1		UPI0000048F1B	0	NA	ENST00000265394		ENSG00000106066	14399		197	0		HGNC	p.W84X		CPVL		SNV							ENST00000455893	protein_coding	getma.org/?cm=var&var=hg19,7,29070257,C,T&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00450,hmmpanther:PTHR11802,Superfamily_domains:SSF53474		W/*		T	NA	1375/2091		NA		Q75MM4_HUMAN,O75225_HUMAN,C9JZ94_HUMAN,C9JVI2_HUMAN,C9JLV0_HUMAN,C9JI22_HUMAN,C9J6L4_HUMAN				CPVL,stop_gained,p.Trp419Ter,ENST00000409850,;CPVL,stop_gained,p.Trp419Ter,ENST00000265394,NM_031311.3;CPVL,stop_gained,p.Trp419Ter,ENST00000396276,NM_019029.2;CPVL,stop_gained,p.Trp123Ter,ENST00000432534,;CPVL,stop_gained,p.Trp84Ter,ENST00000455893,;							HIGH	1256/1431	W419*	CPVL_HUMAN			Transcript			.	ENSP00000265394		CCDS5419.1			1	
ZNF259	0	LGGM	GRCh37	11	116649776	116649776	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	24	25	.	.	ENST00000227322.3:c.1246-1G>T		p.X416_splice	ENST00000227322	NM_003904.3			0	1	1	UPI000013C471	0		ENST00000227322		ENSG00000109917	13051		49			HGNC	-		ZNF259		SNV							ENST00000227322	protein_coding							A		-/2645				B4DVT8_HUMAN			YES	ZNF259,splice_acceptor_variant,,ENST00000227322,NM_003904.3;ZNF259,splice_acceptor_variant,,ENST00000444935,;ZNF259,splice_acceptor_variant,,ENST00000429220,;AP006216.11,upstream_gene_variant,,ENST00000366405,;AP006216.10,downstream_gene_variant,,ENST00000439104,;ZNF259,downstream_gene_variant,,ENST00000449430,;							HIGH	1246/1380		ZPR1_HUMAN			Transcript			.	ENSP00000227322		CCDS8375.1			1	
DOPEY1	0	LGGM	GRCh37	6	83842005	83842005	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	61	25	.	.	ENST00000349129.2:c.2727C>T	p.Ile909=	p.I909=	ENST00000349129	NM_015018.3	909	atC/atT	0	1	1	UPI00001C1574	0		ENST00000349129		ENSG00000083097	21194		86			HGNC	p.I909I		DOPEY1		SNV							ENST00000349129	protein_coding			hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		I		T		2987/8210							YES	DOPEY1,synonymous_variant,p.=,ENST00000349129,NM_015018.3;DOPEY1,synonymous_variant,p.=,ENST00000369739,NM_001199942.1;DOPEY1,synonymous_variant,p.=,ENST00000237163,;DOPEY1,downstream_gene_variant,,ENST00000604380,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000493541,;							LOW	2727/7398		DOP1_HUMAN			Transcript			.	ENSP00000195654		CCDS4996.1			1	
NLRP11	0	LGGM	GRCh37	19	56321551	56321551	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	6	25	.	.	ENST00000443188.1:c.425A>G	p.Tyr142Cys	p.Y142C	ENST00000443188	NM_145007.3	142	tAt/tGt	0	1		UPI000013ED9D	0	NA	ENST00000589093		ENSG00000179873	22945		31	0		HGNC	p.Y142C		NLRP11		SNV							ENST00000593244	protein_coding	getma.org/?cm=var&var=hg19,19,56321551,T,C&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62		Y/C		C	neutral	519/3417		getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=88&re=146&var=Y142C	tolerated(0.16)	K7ESF9_HUMAN				NLRP11,missense_variant,p.Tyr142Cys,ENST00000443188,NM_145007.3;NLRP11,missense_variant,p.Tyr142Cys,ENST00000360133,;NLRP11,missense_variant,p.Tyr142Cys,ENST00000589093,;NLRP11,missense_variant,p.Tyr142Cys,ENST00000589824,;NLRP11,missense_variant,p.Tyr43Cys,ENST00000592953,;NLRP11,downstream_gene_variant,,ENST00000593208,;NLRP11,missense_variant,p.Tyr43Cys,ENST00000590409,;NLRP11,missense_variant,p.Tyr142Cys,ENST00000593244,;							MODERATE	425/3102	Y142C	NAL11_HUMAN			Transcript		possibly_damaging(0.712)	.	ENSP00000466285		CCDS12935.1			1	
KRT8P11	0	LGGM	GRCh37	9	102067859	102067859	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	73	25	.	.	ENST00000539942.1:n.466T>C		*156*	ENST00000539942				0	1	1		0		ENST00000539942		ENSG00000255815	31058		98			HGNC	p.L156L		KRT8P11		SNV							ENST00000409686	processed_pseudogene							C		466/1500							YES	KRT8P11,non_coding_transcript_exon_variant,,ENST00000539942,;KRT8P11,non_coding_transcript_exon_variant,,ENST00000409686,;							MODIFIER						Transcript			.						1	
OR6N1	0	LGGM	GRCh37	1	158735625	158735625	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	62	26	.	.	ENST00000335094.2:c.848C>A	p.Pro283His	p.P283H	ENST00000335094	NM_001005185.1	283	cCc/cAc	0	1	1	UPI000003FE15	0	NA	ENST00000335094		ENSG00000197403	15034		88	4.09		HGNC	p.P283H		OR6N1		SNV							ENST00000335094	protein_coding	getma.org/?cm=var&var=hg19,1,158735625,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/H		T	high	868/1027		getma.org/?cm=msa&ty=f&p=OR6N1_HUMAN&rb=139&re=283&var=P283H	deleterious(0)				YES	OR6N1,missense_variant,p.Pro283His,ENST00000335094,NM_001005185.1;							MODERATE	848/939	P283H	OR6N1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335535		CCDS30905.1			1	
SPHKAP	0	LGGM	GRCh37	2	228882922	228882922	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	49	27	.	.	ENST00000392056.3:c.2648C>A	p.Thr883Asn	p.T883N	ENST00000392056	NM_001142644.1	883	aCc/aAc	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		76	1.155		HGNC	p.T883N		SPHKAP		SNV							ENST00000344657	protein_coding	getma.org/?cm=var&var=hg19,2,228882922,G,T&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		T/N		T	low	2695/6917		getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=801&re=1000&var=T883N	tolerated(0.52)				YES	SPHKAP,missense_variant,p.Thr883Asn,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Thr883Asn,ENST00000344657,NM_030623.3;							MODERATE	2648/5103	T883N	SPKAP_HUMAN			Transcript		benign(0.009)	.	ENSP00000375909		CCDS46537.1			1	
FAM13C	0	LGGM	GRCh37	10	61043236	61043236	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	68	27	.	.	ENST00000373868.2:c.508-29A>T		*170*	ENST00000373868	NM_198215.3			0	1	1	UPI00001AEA18	0		ENST00000373868		ENSG00000148541	19371		95			HGNC	p.D181V		FAM13C		SNV							ENST00000277705	protein_coding							A		-/3327				D6RIX4_HUMAN			YES	FAM13C,missense_variant,p.Asp181Val,ENST00000277705,;FAM13C,missense_variant,p.Asp181Val,ENST00000442566,;FAM13C,intron_variant,,ENST00000373867,NM_001166698.1;FAM13C,intron_variant,,ENST00000373868,NM_198215.3;FAM13C,intron_variant,,ENST00000419214,NM_001001971.2;FAM13C,intron_variant,,ENST00000468840,NM_001143773.1;FAM13C,intron_variant,,ENST00000435852,;FAM13C,intron_variant,,ENST00000422313,;RP11-443O13.3,downstream_gene_variant,,ENST00000433249,;FAM13C,intron_variant,,ENST00000477101,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;FAM13C,intron_variant,,ENST00000513059,;							MODIFIER	-/1758		FA13C_HUMAN			Transcript			.	ENSP00000362975		CCDS7255.1			1	
TEX37	0	LGGM	GRCh37	2	88825183	88825183	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	70	28	.	.	ENST00000303254.3:c.21G>A	p.Pro7=	p.P7=	ENST00000303254	NM_152670.2	7	ccG/ccA	0	1	1	UPI0000072E9C	0		ENST00000303254		ENSG00000172073	26341		98			HGNC	p.P7P	rs750348762	TEX37		SNV							ENST00000303254	protein_coding			Pfam_domain:PF15217		P		A		163/795	1.50E-05						YES	TEX37,synonymous_variant,p.=,ENST00000303254,NM_152670.2;	0.000116						LOW	21/543		TEX37_HUMAN			Transcript			.	ENSP00000307142	1.65E-05	CCDS2003.1			1	
NDNF	0	LGGM	GRCh37	4	121957762	121957762	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	76	28	.	.	ENST00000379692.4:c.1364C>T	p.Ala455Val	p.A455V	ENST00000379692	NM_024574.3	455	gCc/gTc	0	1	1	UPI00001D6985	0	NA	ENST00000379692		ENSG00000173376	26256		104	0.415		HGNC	p.A455V	rs762583822	NDNF	6.06E-05	SNV							ENST00000379692	protein_coding	getma.org/?cm=var&var=hg19,4,121957762,G,A&fts=all		hmmpanther:PTHR14619,hmmpanther:PTHR14619:SF1,Pfam_domain:PF10179,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/V		A	neutral	1891/2885		getma.org/?cm=msa&ty=f&p=NDNF_HUMAN&rb=445&re=564&var=A455V	tolerated(0.35)	D6RF18_HUMAN,D6R972_HUMAN			YES	NDNF,missense_variant,p.Ala455Val,ENST00000379692,NM_024574.3;NDNF,downstream_gene_variant,,ENST00000515757,;NDNF,downstream_gene_variant,,ENST00000511408,;NDNF,downstream_gene_variant,,ENST00000506900,;							MODERATE	1364/1707	A455V	NDNF_HUMAN			Transcript		benign(0.013)	.	ENSP00000369014	8.24E-06	CCDS3717.2			1	
KRT16	0	LGGM	GRCh37	17	39767403	39767403	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	38	29	.	.	ENST00000301653.4:c.851G>C	p.Arg284Pro	p.R284P	ENST00000301653	NM_005557.3	284	cGc/cCc	0	1	1	UPI0000001C7B	0	getma.org/pdb.php?prot=K1C16_HUMAN&from=116&to=427&var=R284P	ENST00000301653		ENSG00000186832	6423		67	2.98		HGNC	p.R284P		KRT16		SNV			1				ENST00000301653	protein_coding	getma.org/?cm=var&var=hg19,17,39767403,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF105,Pfam_domain:PF00038,Prints_domain:PR01248		R/P		G	medium	916/1644		getma.org/?cm=msa&ty=f&p=K1C16_HUMAN&rb=116&re=427&var=R284P	deleterious(0)	K7ENW6_HUMAN,K7ENV3_HUMAN			YES	KRT16,missense_variant,p.Arg284Pro,ENST00000301653,NM_005557.3;KRT16,missense_variant,p.Arg46Pro,ENST00000593067,;KRT16,downstream_gene_variant,,ENST00000590990,;KRT16,downstream_gene_variant,,ENST00000588319,;							MODERATE	851/1422	R284P	K1C16_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000301653		CCDS11401.1			1	
PCDH15	0	LGGM	GRCh37	10	55996635	55996635	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	48	30	.	.	ENST00000361849.3:c.933G>C	p.Arg311=	p.R311=	ENST00000361849	NM_001142768.1	311	cgG/cgC	0	1		UPI000014083E	0		ENST00000320301		ENSG00000150275	14674		78			HGNC	p.R311R		PCDH15		SNV			1				ENST00000437009	protein_coding			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313		R		G		1328/6845				A2A3D9_HUMAN				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.=,ENST00000373955,;PCDH15,synonymous_variant,p.=,ENST00000373957,;PCDH15,synonymous_variant,p.=,ENST00000395446,;PCDH15,synonymous_variant,p.=,ENST00000395440,;PCDH15,synonymous_variant,p.=,ENST00000395442,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,synonymous_variant,p.=,ENST00000448885,;PCDH15,intron_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;							LOW	933/5868		PCD15_HUMAN			Transcript			.	ENSP00000322604		CCDS7248.1			1	
STARD9	0	LGGM	GRCh37	15	42978649	42978649	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	91	34	.	.	ENST00000290607.7:c.4873A>G	p.Lys1625Glu	p.K1625E	ENST00000290607	NM_020759.2	1625	Aag/Gag	0	1	1	UPI0001BE8155	0	NA	ENST00000290607		ENSG00000159433	19162		125	1.445		HGNC	p.K1625E		STARD9		SNV							ENST00000290607	protein_coding	getma.org/?cm=var&var=hg19,15,42978649,A,G&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF323		K/E		G	low	4930/15567		getma.org/?cm=msa&ty=f&p=STAR9_HUMAN&rb=762&re=3238&var=K1625E		B4DMS6_HUMAN			YES	STARD9,missense_variant,p.Lys1625Glu,ENST00000290607,NM_020759.2;STARD9,downstream_gene_variant,,ENST00000569419,;STARD9,upstream_gene_variant,,ENST00000562619,;STARD9,downstream_gene_variant,,ENST00000562139,;							MODERATE	4873/14103	K1625E	STAR9_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000290607		CCDS53935.1			1	
SPTA1	0	LGGM	GRCh37	1	158644348	158644348	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	115	34	.	.	ENST00000368147.4:c.1230C>T	p.Asp410=	p.D410=	ENST00000368147	NM_003126.2	410	gaC/gaT	0	1	1	UPI0000458906	0		ENST00000368147		ENSG00000163554	11272		149			HGNC	p.D410D	rs375614146	SPTA1		SNV	A:0		1				ENST00000368147	protein_coding			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966		D	A:0.0001	A		1411/7999	1.50E-05			O60686_HUMAN			YES	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000467387,;							LOW	1230/7260		SPTA1_HUMAN			Transcript			.	ENSP00000357129	8.27E-06	CCDS41423.1			1	
CEP290	0	LGGM	GRCh37	12	88530539	88530539	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	75	36	.	.	ENST00000552810.1:c.322C>T	p.Arg108Ter	p.R108*	ENST00000552810	NM_025114.3	108	Cga/Tga	0	1	1	UPI0000D60D15	0	NA	ENST00000552810		ENSG00000198707	29021		111	0		HGNC	p.R108X		CEP290		SNV			1				ENST00000548323	protein_coding	getma.org/?cm=var&var=hg19,12,88530539,G,A&fts=all		hmmpanther:PTHR18879		R/*		A	NA	666/7948		NA					YES	CEP290,stop_gained,p.Arg108Ter,ENST00000552810,NM_025114.3;CEP290,stop_gained,p.Arg108Ter,ENST00000309041,;CEP290,stop_gained,p.Arg61Ter,ENST00000552770,;CEP290,stop_gained,p.Arg108Ter,ENST00000550962,;CEP290,stop_gained,p.Arg74Ter,ENST00000547926,;							HIGH	322/7440	R108*	CE290_HUMAN			Transcript			.	ENSP00000448012		CCDS55858.1			1	
CCDC129	0	LGGM	GRCh37	7	31617535	31617535	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	128	38	.	.	ENST00000451887.2:c.735G>T	p.Leu245=	p.L245=	ENST00000451887	NM_001257968.1	245	ctG/ctT	0	1		UPI00015A2549	0		ENST00000407970		ENSG00000180347	27363		166			HGNC	p.L245L		CCDC129		SNV							ENST00000451887	protein_coding			Pfam_domain:PF14722,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12		L		T		695/3269				E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN				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;CCDC129,downstream_gene_variant,,ENST00000454513,;CCDC129,downstream_gene_variant,,ENST00000409717,;CCDC129,downstream_gene_variant,,ENST00000456011,;CCDC129,downstream_gene_variant,,ENST00000482748,;							LOW	657/3135		CC129_HUMAN			Transcript			.	ENSP00000384416		CCDS5435.2			1	
C1orf173	0	LGGM	GRCh37	1	75038637	75038637	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	87	38	.	.	ENST00000326665.5:c.2757A>T	p.Val919=	p.V919=	ENST00000326665	NM_001002912.4	919	gtA/gtT	0	1	1	UPI0000237200	0		ENST00000326665		ENSG00000178965	25346		125			HGNC	p.V919V		C1orf173		SNV							ENST00000326665	protein_coding			hmmpanther:PTHR23034,Low_complexity_(Seg):seg		V		A		2976/7159							YES	C1orf173,synonymous_variant,p.=,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;							LOW	2757/4593		CA173_HUMAN			Transcript			.	ENSP00000322609		CCDS30755.1			1	
PCDH17	0	LGGM	GRCh37	13	58299178	58299178	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	47	45	.	.	ENST00000377918.3:c.3230A>G	p.Gln1077Arg	p.Q1077R	ENST00000377918	NM_001040429.2	1077	cAa/cGa	0	1	1	UPI00001FCE5B	0	NA	ENST00000377918		ENSG00000118946	14267		92	1.355		HGNC	p.Q1077R		PCDH17		SNV							ENST00000377918	protein_coding	getma.org/?cm=var&var=hg19,13,58299178,A,G&fts=all				Q/R		G	low	3256/7523		getma.org/?cm=msa&ty=f&p=PCD17_HUMAN&rb=751&re=1157&var=Q1077R	tolerated_low_confidence(0.08)				YES	PCDH17,missense_variant,p.Gln1077Arg,ENST00000377918,NM_001040429.2;PCDH17,3_prime_UTR_variant,,ENST00000484979,;							MODERATE	3230/3480	Q1077R	PCD17_HUMAN			Transcript		benign(0.169)	.	ENSP00000367151		CCDS31986.1			1	
MYH11	0	LGGM	GRCh37	16	15818605	15818605	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071591	H071591N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	66	46	.	.	ENST00000396324.3:c.4036C>T	p.Arg1346Cys	p.R1346C	ENST00000396324	NM_001040114.1	1346	Cgc/Tgc	0	1		UPI000012FB86	0	NA	ENST00000300036		ENSG00000133392	7569		112	3.025		HGNC	p.R1346C	rs754951425	MYH11	6.06E-05	SNV			1				ENST00000396324	protein_coding	getma.org/?cm=var&var=hg19,16,15818605,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,Superfamily_domains:SSF90257		R/C		A	medium	4125/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1073&re=1930&var=R1339C		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Arg1346Cys,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Arg1346Cys,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Arg1339Cys,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Arg1339Cys,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,;							MODERATE	4015/5919	R1339C	MYH11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000300036	8.24E-06	CCDS10565.1			1	
CASP12	0	LGGM	GRCh37	11	104768139	104768139	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	70	50	.	.	ENST00000422698.2:c.64T>G	p.Phe22Val	p.F22V	ENST00000422698	NM_001191016.1	22	Ttt/Gtt	0	1	1	UPI000040532B	0	NA	ENST00000422698		ENSG00000204403	19004		120	-0.345		HGNC	p.F22V		CASP12		SNV							ENST00000422698	protein_coding	getma.org/?cm=var&var=hg19,11,104768139,A,C&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF00619,PIRSF_domain:PIRSF038001,PROSITE_profiles:PS50209,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF134,Superfamily_domains:SSF47986		F/V		C	neutral	83/1451		getma.org/?cm=msa&ty=f&p=CASPC_HUMAN&rb=7&re=91&var=F22V	tolerated(0.71)				YES	CASP12,missense_variant,p.Phe22Val,ENST00000422698,NM_001191016.1;CASP12,missense_variant,p.Phe22Val,ENST00000375726,;CASP12,missense_variant,p.Phe22Val,ENST00000446862,;CASP12,missense_variant,p.Phe22Val,ENST00000441710,;CASP12,missense_variant,p.Phe22Val,ENST00000448103,;CASP12,missense_variant,p.Phe22Val,ENST00000494737,;CASP12,intron_variant,,ENST00000447913,;CASP12,intron_variant,,ENST00000508062,;CASP12,intron_variant,,ENST00000433738,;RP11-693N9.2,downstream_gene_variant,,ENST00000532510,;RP11-693N9.2,downstream_gene_variant,,ENST00000531091,;RP11-693N9.2,downstream_gene_variant,,ENST00000527637,;RP11-693N9.2,downstream_gene_variant,,ENST00000528437,;RP11-693N9.2,downstream_gene_variant,,ENST00000534659,;CASP12,missense_variant,p.Phe22Val,ENST00000417998,;CASP12,missense_variant,p.Phe22Val,ENST00000458137,;							MODERATE	64/1026	F22V	CASPC_HUMAN			Transcript		benign(0.001)	.	ENSP00000427128		CCDS55785.1			1	
PCLO	0	LGGM	GRCh37	7	82583121	82583121	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071591	H071591N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	69	58	.	.	ENST00000333891.9:c.7148T>A	p.Val2383Asp	p.V2383D	ENST00000333891	NM_033026.5	2383	gTt/gAt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		127	0.895		HGNC	p.V2383D		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82583121,A,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		V/D		T	low	7486/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=V2314D					YES	PCLO,missense_variant,p.Val2383Asp,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Val2383Asp,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	7148/15429	V2314D	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
ZNF607	0	LGGM	GRCh37	19	38190567	38190567	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H071591	H071591N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	43	60	.	.	ENST00000355202.4:c.465A>T	p.Thr155=	p.T155=	ENST00000355202	NM_032689.4	155	acA/acT	0	1	1	UPI000040BC07	0		ENST00000355202		ENSG00000198182	28192		103			HGNC	p.T155T		ZNF607		SNV							ENST00000355202	protein_coding			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF249,Superfamily_domains:SSF57667		T		A		1061/4364				Q59G67_HUMAN,K7EN48_HUMAN			YES	ZNF607,synonymous_variant,p.=,ENST00000355202,NM_032689.4;ZNF607,synonymous_variant,p.=,ENST00000395835,NM_001172677.1;ZNF607,synonymous_variant,p.=,ENST00000590670,;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,3_prime_UTR_variant,,ENST00000586559,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;							LOW	465/2091		ZN607_HUMAN			Transcript			.	ENSP00000347338		CCDS33006.1			1	
TTN	0	LGGM	GRCh37	2	179422500	179422500	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071591	H071591N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071591N.bam, H071591T.bam	Illumina HiSeq	244	96	.	.	ENST00000589042.1:c.87581G>A	p.Arg29194Lys	p.R29194K	ENST00000589042	NM_001267550.1	29194	aGa/aAa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=27498&to=27582&var=R27553K	ENST00000591111		ENSG00000155657	12403		340	1.75		HGNC	p.R20254K		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179422500,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/K		T	low	82883/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=27498&re=27582&var=R27553K		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg29194Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg27553Lys,ENST00000591111,;TTN,missense_variant,p.Arg26626Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg20321Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg20254Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg20129Lys,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,;							MODERATE	82658/103053	R27553K	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
C16orf54	0	LGGM	GRCh37	16	29755660	29755660	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	6	2	.	.	ENST00000329410.3:c.613G>T	p.Val205Phe	p.V205F	ENST00000329410	NM_175900.3	205	Gtc/Ttc	0	1	1	UPI0000141B48	0	NA	ENST00000329410		ENSG00000185905	26649		8	0.895		HGNC	p.V205F		C16orf54		SNV							ENST00000329410	protein_coding	getma.org/?cm=var&var=hg19,16,29755660,C,A&fts=all				V/F		A	low	709/2585		getma.org/?cm=msa&ty=f&p=CP054_HUMAN&rb=171&re=224&var=V205F	deleterious_low_confidence(0)				YES	C16orf54,missense_variant,p.Val205Phe,ENST00000329410,NM_175900.3;AC009133.17,upstream_gene_variant,,ENST00000565600,;							MODERATE	613/675	V205F	CP054_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000327506		CCDS10652.1			1	
ABCB8	0	LGGM	GRCh37	7	150741163	150741163	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	13	2	.	.	ENST00000358849.4:c.1871C>A	p.Ala624Glu	p.A624E	ENST00000358849	NM_007188.3	624	gCg/gAg	0	1		UPI000013E41A	0	getma.org/pdb.php?prot=ABCB8_HUMAN&from=472&to=709&var=A641E	ENST00000297504		ENSG00000197150	49		15	2.88		HGNC	p.A641E		ABCB8		SNV							ENST00000297504	protein_coding	getma.org/?cm=var&var=hg19,7,150741163,C,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF167,SMART_domains:SM00382,Superfamily_domains:SSF52540		A/E		A	medium	1988/2487		getma.org/?cm=msa&ty=f&p=ABCB8_HUMAN&rb=472&re=709&var=A641E	deleterious(0)	B3KSN3_HUMAN,B3KND2_HUMAN				ABCB8,missense_variant,p.Ala624Glu,ENST00000358849,NM_007188.3;ABCB8,missense_variant,p.Ala641Glu,ENST00000297504,NM_001282291.1;ABCB8,missense_variant,p.Ala624Glu,ENST00000498578,NM_001282292.1;ABCB8,missense_variant,p.Ala536Glu,ENST00000542328,NM_001282293.1;ABCB8,3_prime_UTR_variant,,ENST00000356058,;ASIC3,upstream_gene_variant,,ENST00000357922,NM_020322.3;ASIC3,upstream_gene_variant,,ENST00000349064,NM_004769.3,NM_020321.3;ASIC3,upstream_gene_variant,,ENST00000297512,;ABCB8,3_prime_UTR_variant,,ENST00000466514,;ABCB8,3_prime_UTR_variant,,ENST00000482309,;ABCB8,non_coding_transcript_exon_variant,,ENST00000482899,;ASIC3,upstream_gene_variant,,ENST00000377904,;ABCB8,downstream_gene_variant,,ENST00000470645,;ASIC3,upstream_gene_variant,,ENST00000468325,;							MODERATE	1922/2208	A641E	ABCB8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000297504		CCDS64799.1			1	
DUS3L	0	LGGM	GRCh37	19	5788059	5788059	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	9	2	.	.	ENST00000309061.7:c.1071G>T	p.Gln357His	p.Q357H	ENST00000309061	NM_020175.2	357	caG/caT	0	1	1	UPI0000140953	0	getma.org/pdb.php?prot=DUS3L_HUMAN&from=308&to=580&var=Q357H	ENST00000309061		ENSG00000141994	26920		11	0.295		HGNC	p.Q357H		DUS3L		SNV							ENST00000309061	protein_coding	getma.org/?cm=var&var=hg19,19,5788059,C,A&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF01207,hmmpanther:PTHR11082,hmmpanther:PTHR11082:SF8,Superfamily_domains:SSF51395		Q/H		A	neutral	1168/2113		getma.org/?cm=msa&ty=f&p=DUS3L_HUMAN&rb=308&re=580&var=Q357H	tolerated(0.55)	D6W636_HUMAN			YES	DUS3L,missense_variant,p.Gln357His,ENST00000309061,NM_020175.2;DUS3L,missense_variant,p.Gln115His,ENST00000320699,NM_001161619.1;PRR22,upstream_gene_variant,,ENST00000390672,;PRR22,upstream_gene_variant,,ENST00000419421,NM_001134316.1;DUS3L,upstream_gene_variant,,ENST00000590343,;DUS3L,downstream_gene_variant,,ENST00000592491,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,downstream_gene_variant,,ENST00000590681,;DUS3L,missense_variant,p.Gln43His,ENST00000591560,;DUS3L,3_prime_UTR_variant,,ENST00000590110,;DUS3L,non_coding_transcript_exon_variant,,ENST00000589085,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590087,;DUS3L,non_coding_transcript_exon_variant,,ENST00000593229,;DUS3L,downstream_gene_variant,,ENST00000585587,;DUS3L,upstream_gene_variant,,ENST00000592468,;DUS3L,upstream_gene_variant,,ENST00000592673,;DUS3L,downstream_gene_variant,,ENST00000589854,;DUS3L,upstream_gene_variant,,ENST00000589841,;							MODERATE	1071/1953	Q357H	DUS3L_HUMAN			Transcript		benign(0.002)	.	ENSP00000311977		CCDS32880.1			1	
TTLL10	0	LGGM	GRCh37	1	1115448	1115448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	2	2	.	.	ENST00000379290.1:c.234G>T	p.Gln78His	p.Q78H	ENST00000379290		78	caG/caT	0	1		UPI0000205ADB	0	NA	ENST00000379289		ENSG00000162571	26693		4	1.24		HGNC	p.Q78H		TTLL10		SNV							ENST00000379289	protein_coding	getma.org/?cm=var&var=hg19,1,1115448,G,T&fts=all		hmmpanther:PTHR12241:SF72,hmmpanther:PTHR12241		Q/H		T	low	385/2259		getma.org/?cm=msa&ty=f&p=TTL10_HUMAN&rb=1&re=149&var=Q78H	tolerated_low_confidence(0.13)					TTLL10,missense_variant,p.Gln78His,ENST00000379290,;TTLL10,missense_variant,p.Gln78His,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Gln5His,ENST00000379288,NM_153254.2;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,upstream_gene_variant,,ENST00000460998,;TTLL10,upstream_gene_variant,,ENST00000486379,;TTLL10,upstream_gene_variant,,ENST00000514695,;							MODERATE	234/2022	Q78H	TTL10_HUMAN			Transcript		possibly_damaging(0.567)	.	ENSP00000368591		CCDS44036.1			1	
CAPS	0	LGGM	GRCh37	19	5914098	5914098	+	intron_variant,NMD_transcript_variant	Intron	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	4	2	.	.	ENST00000588891.1:c.192-134G>T		*64*	ENST00000588891				0	1	1	UPI00001270F7	0		ENST00000222125		ENSG00000105519	1487		6		149	HGNC	p.R5M		CAPS		SNV							ENST00000588776	protein_coding							T		-/1221				Q96ET4_HUMAN,K7ES72_HUMAN			YES	CAPS,missense_variant,p.Arg5Met,ENST00000588776,;RANBP3,downstream_gene_variant,,ENST00000340578,NM_007322.2,NM_003624.2,NM_007320.2;RANBP3,downstream_gene_variant,,ENST00000439268,;VMAC,downstream_gene_variant,,ENST00000339485,NM_001017921.3;RANBP3,downstream_gene_variant,,ENST00000591092,;RANBP3,downstream_gene_variant,,ENST00000034275,;RANBP3,downstream_gene_variant,,ENST00000541471,;CAPS,upstream_gene_variant,,ENST00000222125,NM_004058.3;CAPS,upstream_gene_variant,,ENST00000452990,NM_080590.2;RANBP3,downstream_gene_variant,,ENST00000587479,;CAPS,upstream_gene_variant,,ENST00000588865,;AC104532.4,upstream_gene_variant,,ENST00000591109,;AC104532.2,intron_variant,,ENST00000588891,;RANBP3,downstream_gene_variant,,ENST00000586344,;RANBP3,downstream_gene_variant,,ENST00000592771,;CAPS,upstream_gene_variant,,ENST00000585541,;RANBP3,downstream_gene_variant,,ENST00000592197,;CAPS,upstream_gene_variant,,ENST00000590428,;							MODIFIER	-/570		CAYP1_HUMAN			Transcript			.	ENSP00000222125		CCDS12156.1			1	
ATP2B2	0	LGGM	GRCh37	3	10413495	10413495	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	5	2	.	.	ENST00000360273.2:c.1657C>A	p.Leu553Met	p.L553M	ENST00000360273	NM_001001331.2	553	Ctg/Atg	0	1		UPI00001261EF	0	getma.org/pdb.php?prot=AT2B2_HUMAN&from=493&to=832&var=L553M	ENST00000352432		ENSG00000157087	815		7	1.135		HGNC	p.L508M		ATP2B2		SNV							ENST00000460129	protein_coding	getma.org/?cm=var&var=hg19,3,10413495,G,T&fts=all		Gene3D:3.40.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01517		L/M		T	low	1727/8593		getma.org/?cm=msa&ty=f&p=AT2B2_HUMAN&rb=493&re=832&var=L553M	tolerated(0.26)	Q4J699_HUMAN,Q4J696_HUMAN				ATP2B2,missense_variant,p.Leu508Met,ENST00000397077,;ATP2B2,missense_variant,p.Leu553Met,ENST00000360273,NM_001001331.2;ATP2B2,missense_variant,p.Leu539Met,ENST00000343816,;ATP2B2,missense_variant,p.Leu508Met,ENST00000383800,NM_001683.3;ATP2B2,missense_variant,p.Leu553Met,ENST00000352432,;ATP2B2,missense_variant,p.Leu409Met,ENST00000452124,;ATP2B2,missense_variant,p.Leu508Met,ENST00000460129,;							MODERATE	1657/3732	L553M	AT2B2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000324172		CCDS33701.1			1	
AP5Z1	0	LGGM	GRCh37	7	4827291	4827291	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	2	2	.	.	ENST00000348624.4:c.1338C>A	p.Leu446=	p.L446=	ENST00000348624	NM_014855.2	446	ctC/ctA	0	1	1	UPI00003E5903	0		ENST00000348624		ENSG00000242802	22197		4			HGNC	p.L446L		AP5Z1		SNV			1				ENST00000348624	protein_coding			hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Pfam_domain:PF14764		L		A		1432/2901				A4D1Z4_HUMAN			YES	AP5Z1,synonymous_variant,p.=,ENST00000348624,NM_014855.2;AP5Z1,synonymous_variant,p.=,ENST00000401897,;MIR4656,downstream_gene_variant,,ENST00000579503,;AP5Z1,upstream_gene_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477454,;AP5Z1,upstream_gene_variant,,ENST00000469614,;AP5Z1,downstream_gene_variant,,ENST00000491375,;							LOW	1338/2424		AP5Z1_HUMAN			Transcript			.	ENSP00000297562		CCDS47528.1			1	
ZZEF1	0	LGGM	GRCh37	17	3979985	3979985	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	13	2	.	.	ENST00000381638.2:c.3180C>G	p.Val1060=	p.V1060=	ENST00000381638	NM_015113.3	1060	gtC/gtG	0	1	1	UPI00004569F7	0		ENST00000381638		ENSG00000074755	29027		15			HGNC	p.V1060V		ZZEF1		SNV							ENST00000381638	protein_coding			hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3		V		C		3305/11456							YES	ZZEF1,synonymous_variant,p.=,ENST00000381638,NM_015113.3;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;ZZEF1,upstream_gene_variant,,ENST00000572699,;ZZEF1,upstream_gene_variant,,ENST00000570365,;							LOW	3180/8886		ZZEF1_HUMAN			Transcript			.	ENSP00000371051		CCDS11043.1			1	
TMEM43	0	LGGM	GRCh37	3	14173173	14173173	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	4	2	.	.	ENST00000306077.4:c.391del	p.Arg131GlyfsTer9	p.R131Gfs*9	ENST00000306077	NM_024334.2	131	Agg/gg	0	1	1	UPI0000048F42	0		ENST00000306077		ENSG00000170876	28472		6			HGNC	p.R131fs		TMEM43		deletion			1				ENST00000306077	protein_coding			Pfam_domain:PF07787,hmmpanther:PTHR13416:SF0,hmmpanther:PTHR13416		R/X		-		645/3341							YES	TMEM43,frameshift_variant,p.Arg131GlyfsTer9,ENST00000306077,NM_024334.2;TMEM43,splice_region_variant,,ENST00000432444,;RP11-434D12.1,upstream_gene_variant,,ENST00000608606,;							HIGH	391/1203		TMM43_HUMAN			Transcript			.	ENSP00000303992		CCDS2618.1			1	
CACNG4	0	LGGM	GRCh37	17	64961158	64961158	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	4	2	.	.	ENST00000262138.3:c.131C>A	p.Thr44Asn	p.T44N	ENST00000262138	NM_014405.3	44	aCc/aAc	0	1	1	UPI0000001649	0	NA	ENST00000262138		ENSG00000075461	1408		6	1.2		HGNC	p.T44N		CACNG4		SNV							ENST00000262138	protein_coding	getma.org/?cm=var&var=hg19,17,64961158,C,A&fts=all		hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7,Pfam_domain:PF00822,Prints_domain:PR01603		T/N		A	low	133/3380		getma.org/?cm=msa&ty=f&p=CCG4_HUMAN&rb=6&re=202&var=T44N	deleterious(0.02)				YES	CACNG4,missense_variant,p.Thr44Asn,ENST00000262138,NM_014405.3;							MODERATE	131/984	T44N	CCG4_HUMAN			Transcript		possibly_damaging(0.616)	.	ENSP00000262138		CCDS11667.1			1	
DOCK8	0	LGGM	GRCh37	9	377195	377195	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	5	2	.	.	ENST00000453981.1:c.2424C>A	p.Val808=	p.V808=	ENST00000453981		808	gtC/gtA	0	1		UPI000034ECCE	0		ENST00000432829		ENSG00000107099	19191		7			HGNC	p.V740V		DOCK8		SNV			1				ENST00000469391	protein_coding			hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317		V		A		2536/7452				E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				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,synonymous_variant,p.=,ENST00000382331,;DOCK8,3_prime_UTR_variant,,ENST00000483757,;DOCK8,non_coding_transcript_exon_variant,,ENST00000495184,;							LOW	2220/6096		DOCK8_HUMAN			Transcript			.	ENSP00000394888		CCDS55283.1			1	
PLEC	0	LGGM	GRCh37	8	144999488	144999488	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	0	2	.	.	ENST00000322810.4:c.5020G>A	p.Ala1674Thr	p.A1674T	ENST00000322810	NM_201380.2	1674	Gcc/Acc	0	1	1	UPI0000233FCD	0	NA	ENST00000322810		ENSG00000178209	9069		2	1.1		HGNC	p.A1560T		PLEC		SNV			1				ENST00000527096	protein_coding	getma.org/?cm=var&var=hg19,8,144999488,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,Low_complexity_(Seg):seg		A/T		T	low	5190/15249		getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=1601&re=1800&var=A1674T		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Ala1674Thr,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Ala1537Thr,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Ala1564Thr,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Ala1515Thr,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Ala1537Thr,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Ala1541Thr,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Ala1523Thr,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Ala1505Thr,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Ala1560Thr,ENST00000527096,;PLEC,intron_variant,,ENST00000527303,;							MODERATE	5020/14055	A1674T	PLEC_HUMAN			Transcript		unknown(0)	.	ENSP00000323856		CCDS43772.1			1	
SEC14L5	0	LGGM	GRCh37	16	5046950	5046950	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	38	3	.	.	ENST00000251170.7:c.875G>A	p.Arg292His	p.R292H	ENST00000251170	NM_014692.1	292	cGc/cAc	0	1	1	UPI00001C1FA3	0	getma.org/pdb.php?prot=S14L5_HUMAN&from=289&to=307&var=R292H	ENST00000251170		ENSG00000103184	29032		41	3.98		HGNC	p.R292H	rs764384236,COSM1478913	SEC14L5	0.000251	SNV						0,1	ENST00000251170	protein_coding	getma.org/?cm=var&var=hg19,16,5046950,G,A&fts=all		hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF39,Gene3D:3.40.525.10,Superfamily_domains:SSF46938		R/H		A	high	1055/6459	1.55E-05	getma.org/?cm=msa&ty=f&p=S14L5_HUMAN&rb=259&re=337&var=R292H	deleterious(0)	K7ERV2_HUMAN			YES	SEC14L5,missense_variant,p.Arg292His,ENST00000251170,NM_014692.1;					0,1		MODERATE	875/2091	R292H	S14L5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251170	4.14E-05	CCDS45403.1			1	
OBSL1	0	LGGM	GRCh37	2	220419223	220419223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	8	3	.	.	ENST00000404537.1:c.4849C>A	p.Arg1617Ser	p.R1617S	ENST00000404537	NM_015311.2	1617	Cgc/Agc	0	1	1	UPI0000E07EA0	0	getma.org/pdb.php?prot=OBSL1_HUMAN&from=1530&to=1628&var=R1617S	ENST00000404537		ENSG00000124006	29092		11	1.175		HGNC	p.R1617S		OBSL1		SNV			1				ENST00000404537	protein_coding	getma.org/?cm=var&var=hg19,2,220419223,G,T&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/S		T	low	4906/5841		getma.org/?cm=msa&ty=f&p=OBSL1_HUMAN&rb=1530&re=1628&var=R1617S	tolerated(0.1)				YES	OBSL1,missense_variant,p.Arg1617Ser,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Arg1525Ser,ENST00000373876,;OBSL1,3_prime_UTR_variant,,ENST00000265318,;OBSL1,downstream_gene_variant,,ENST00000603926,NM_001173431.1;TMEM198,downstream_gene_variant,,ENST00000344458,;TMEM198,downstream_gene_variant,,ENST00000373883,NM_001005209.1;OBSL1,downstream_gene_variant,,ENST00000265317,;OBSL1,downstream_gene_variant,,ENST00000604031,;OBSL1,downstream_gene_variant,,ENST00000456147,;RP11-256I23.2,upstream_gene_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000596474,;OBSL1,intron_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000489804,;OBSL1,upstream_gene_variant,,ENST00000462534,;OBSL1,downstream_gene_variant,,ENST00000472388,;							MODERATE	4849/5691	R1617S	OBSL1_HUMAN			Transcript		possibly_damaging(0.669)	.	ENSP00000385636		CCDS46520.1			1	
AHRR	0	LGGM	GRCh37	5	344044	344044	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	22	3	.	.	ENST00000316418.5:c.39C>A	p.Tyr13Ter	p.Y13*	ENST00000316418	NM_020731.4	13	taC/taA	0	1		UPI0001D3B0D7	0	NA	ENST00000505113		ENSG00000063438	346		25	0		HGNC	p.Y9X	rs746874086	AHRR		SNV							ENST00000504625	protein_coding	getma.org/?cm=var&var=hg19,5,344044,C,A&fts=all		hmmpanther:PTHR10649,hmmpanther:PTHR10649:SF3		Y/*		A	NA	83/2173	1.66E-05	NA		E5RGQ2_HUMAN,E5RFG4_HUMAN,D6RF73_HUMAN				AHRR,stop_gained,p.Tyr13Ter,ENST00000316418,NM_020731.4;AHRR,stop_gained,p.Tyr13Ter,ENST00000505113,NM_001242412.1;AHRR,stop_gained,p.Tyr9Ter,ENST00000510400,;AHRR,stop_gained,p.Tyr9Ter,ENST00000515206,;AHRR,stop_gained,p.Tyr9Ter,ENST00000504625,;AHRR,5_prime_UTR_variant,,ENST00000512529,;AHRR,5_prime_UTR_variant,,ENST00000514523,;PDCD6,3_prime_UTR_variant,,ENST00000506909,;							HIGH	39/2106	Y13*	AHRR_HUMAN			Transcript			.	ENSP00000424601	8.32E-06	CCDS56355.1			1	
KRTAP4-5	0	LGGM	GRCh37	17	39305881	39305881	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	31	3	.	.	ENST00000343246.4:c.139C>A	p.Gln47Lys	p.Q47K	ENST00000343246	NM_033188.3	47	Cag/Aag	0	1	1	UPI0000456AA3	0	NA	ENST00000343246		ENSG00000198271	18899		34	2.85		HGNC	p.Q47K		KRTAP4-5		SNV							ENST00000343246	protein_coding	getma.org/?cm=var&var=hg19,17,39305881,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF12,hmmpanther:PTHR23262		Q/K		T	medium	174/877		getma.org/?cm=msa&ty=f&p=KRA45_HUMAN&rb=35&re=79&var=Q47K					YES	KRTAP4-5,missense_variant,p.Gln47Lys,ENST00000343246,NM_033188.3;							MODERATE	139/546	Q47K	KRA45_HUMAN			Transcript		unknown(0)	.	ENSP00000340546		CCDS32650.1			1	
TBR1	0	LGGM	GRCh37	2	162273463	162273463	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	30	3	.	.	ENST00000389554.3:c.542G>A	p.Gly181Asp	p.G181D	ENST00000389554	NM_006593.2	181	gGc/gAc	0	1	1	UPI0000136A99	0	NA	ENST00000389554		ENSG00000136535	11590		33	0.695		HGNC	p.G181D		TBR1		SNV			1				ENST00000389554	protein_coding	getma.org/?cm=var&var=hg19,2,162273463,G,A&fts=all		hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267		G/D		A	neutral	859/4009		getma.org/?cm=msa&ty=f&p=TBR1_HUMAN&rb=150&re=234&var=G181D	tolerated(0.09)	Q56A81_HUMAN,B0AZS4_HUMAN			YES	TBR1,missense_variant,p.Gly181Asp,ENST00000389554,NM_006593.2;TBR1,upstream_gene_variant,,ENST00000410035,;TBR1,upstream_gene_variant,,ENST00000411412,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;							MODERATE	542/2049	G181D	TBR1_HUMAN			Transcript		benign(0.199)	.	ENSP00000374205		CCDS33310.1			1	
TRIP12	0	LGGM	GRCh37	2	230678687	230678687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	42	3	.	.	ENST00000283943.5:c.1741G>T	p.Ala581Ser	p.A581S	ENST00000283943	NM_004238.1	581	Gca/Tca	0	1	1	UPI000013739D	0	NA	ENST00000283943		ENSG00000153827	12306		45	2.215		HGNC	p.A629S		TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230678687,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		A/S		A	medium	1920/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=385&re=584&var=A581S	deleterious(0.02)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Ala581Ser,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Ala629Ser,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Ala284Ser,ENST00000389045,NM_001284216.1;TRIP12,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;TRIP12,non_coding_transcript_exon_variant,,ENST00000477441,;							MODERATE	1741/5979	A581S	TRIPC_HUMAN			Transcript		benign(0.012)	.	ENSP00000283943		CCDS33391.1			1	
MOB3C	0	LGGM	GRCh37	1	47078986	47078986	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	39	3	.	.	ENST00000271139.8:c.164T>A	p.Leu55Gln	p.L55Q	ENST00000271139	NM_145279.4	55	cTg/cAg	0	1		UPI000013D8C3	0	NA	ENST00000319928		ENSG00000142961	29800		42	2.485		HGNC	p.L3Q		MOB3C		SNV							ENST00000319928	protein_coding	getma.org/?cm=var&var=hg19,1,47078986,A,T&fts=all		hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF12		L/Q		T	medium	239/2822		getma.org/?cm=msa&ty=f&p=MOB3C_HUMAN&rb=1&re=200&var=L3Q	tolerated(0.08)					MOB3C,missense_variant,p.Leu26Gln,ENST00000371940,;MOB3C,missense_variant,p.Leu3Gln,ENST00000319928,NM_201403.2;MOB3C,missense_variant,p.Leu55Gln,ENST00000271139,NM_145279.4;MKNK1,intron_variant,,ENST00000545730,;MKNK1,intron_variant,,ENST00000531769,;MOB3C,non_coding_transcript_exon_variant,,ENST00000477318,;							MODERATE	8/651	L3Q	MOB3C_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000315113		CCDS540.1			1	
RCBTB1	0	LGGM	GRCh37	13	50115129	50115129	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	10	3	.	.	ENST00000378302.2:c.1338G>C	p.Leu446Phe	p.L446F	ENST00000378302	NM_018191.3	446	ttG/ttC	0	1		UPI000007181F	0	getma.org/pdb.php?prot=RCBT1_HUMAN&from=360&to=467&var=L446F	ENST00000258646		ENSG00000136144	18243		13	3.37		HGNC	p.L446F		RCBTB1		SNV							ENST00000258646	protein_coding	getma.org/?cm=var&var=hg19,13,50115129,C,G&fts=all		hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF133,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		L/F		G	medium	1382/3816		getma.org/?cm=msa&ty=f&p=RCBT1_HUMAN&rb=360&re=467&var=L446F	deleterious(0.01)	Q9NVI3_HUMAN,B3KR20_HUMAN				RCBTB1,missense_variant,p.Leu446Phe,ENST00000378302,NM_018191.3;RCBTB1,missense_variant,p.Leu446Phe,ENST00000258646,;RCBTB1,upstream_gene_variant,,ENST00000471984,;							MODERATE	1338/1596	L446F	RCBT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258646		CCDS9418.1			1	
BNC2	0	LGGM	GRCh37	9	16419472	16419472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	26	3	.	.	ENST00000380672.4:c.2815G>T	p.Ala939Ser	p.A939S	ENST00000380672	NM_017637.5	939	Gca/Tca	0	1	1	UPI000035E7B0	0	NA	ENST00000380672		ENSG00000173068	30988		29	0.69		HGNC	p.A844S		BNC2		SNV							ENST00000545497	protein_coding	getma.org/?cm=var&var=hg19,9,16419472,C,A&fts=all		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF2		A/S		A	neutral	2873/12844		getma.org/?cm=msa&ty=f&p=BNC2_HUMAN&rb=857&re=1035&var=A939S	tolerated(0.57)	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN			YES	BNC2,missense_variant,p.Ala939Ser,ENST00000380672,NM_017637.5;BNC2,missense_variant,p.Ala872Ser,ENST00000380667,;BNC2,missense_variant,p.Ala844Ser,ENST00000545497,;BNC2,3_prime_UTR_variant,,ENST00000418777,;BNC2,3_prime_UTR_variant,,ENST00000411752,;BNC2,3_prime_UTR_variant,,ENST00000484726,;							MODERATE	2815/3300	A939S	BNC2_HUMAN			Transcript		benign(0.048)	.	ENSP00000370047		CCDS6482.2			1	
PIWIL1	0	LGGM	GRCh37	12	130851731	130851731	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	42	3	.	.	ENST00000245255.3:c.2249C>A	p.Ala750Asp	p.A750D	ENST00000245255	NM_004764.4	750	gCt/gAt	0	1	1	UPI000007059F	0	getma.org/pdb.php?prot=PIWL1_HUMAN&from=555&to=847&var=A750D	ENST00000245255		ENSG00000125207	9007		45	1.67		HGNC	p.A750D		PIWIL1		SNV							ENST00000245255	protein_coding	getma.org/?cm=var&var=hg19,12,130851731,C,A&fts=all		Superfamily_domains:SSF53098,SMART_domains:SM00950,Pfam_domain:PF02171,Gene3D:3.30.420.10,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31,PROSITE_profiles:PS50822		A/D		A	low	2521/3897		getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=555&re=847&var=A750D	deleterious(0.02)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN			YES	PIWIL1,missense_variant,p.Ala750Asp,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,non_coding_transcript_exon_variant,,ENST00000541480,;							MODERATE	2249/2586	A750D	PIWL1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000245255		CCDS9268.1			1	
CHD9	0	LGGM	GRCh37	16	53341750	53341750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	43	3	.	.	ENST00000566029.1:c.6938C>A	p.Pro2313His	p.P2313H	ENST00000566029		2313	cCc/cAc	0	1		UPI0000E02AC8	0	NA	ENST00000398510		ENSG00000177200	25701		46	1.5		HGNC	p.P2313H		CHD9		SNV							ENST00000566029	protein_coding	getma.org/?cm=var&var=hg19,16,53341750,C,A&fts=all				P/H		A	low	7025/11337		getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=2297&re=2479&var=P2313H		H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,missense_variant,p.Pro2313His,ENST00000566029,;CHD9,missense_variant,p.Pro2313His,ENST00000564845,;CHD9,missense_variant,p.Pro2314His,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Pro2313His,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;							MODERATE	6938/8694	P2313H	CHD9_HUMAN			Transcript		unknown(0)	.	ENSP00000381522					1	
ITIH4	0	LGGM	GRCh37	3	52857739	52857739	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	15	3	.	.	ENST00000266041.4:c.1372G>A	p.Ala458Thr	p.A458T	ENST00000266041	NM_002218.4	458	Gcc/Acc	0	1	1	UPI000013D6C3	0	NA	ENST00000266041		ENSG00000055955	6169		18	3.055		HGNC	p.A458T		ITIH4		SNV							ENST00000266041	protein_coding	getma.org/?cm=var&var=hg19,3,52857739,C,T&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98,Superfamily_domains:SSF53300		A/T		T	medium	1469/3336		getma.org/?cm=msa&ty=f&p=ITIH4_HUMAN&rb=458&re=657&var=A458T	deleterious(0)				YES	ITIH4,missense_variant,p.Ala458Thr,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.Ala458Thr,ENST00000346281,NM_001166449.1;ITIH4,missense_variant,p.Ala458Thr,ENST00000485816,;ITIH4,missense_variant,p.Ala458Thr,ENST00000406595,;ITIH4,missense_variant,p.Ala316Thr,ENST00000441637,;ITIH4,missense_variant,p.Ala370Thr,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,non_coding_transcript_exon_variant,,ENST00000485894,;ITIH4,upstream_gene_variant,,ENST00000461966,;ITIH4,upstream_gene_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000483372,;							MODERATE	1372/2793	A458T	ITIH4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266041		CCDS2865.1			1	
XRCC4	0	LGGM	GRCh37	5	82499424	82499424	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	40	3	.	.	ENST00000511817.1:c.536G>T	p.Arg179Leu	p.R179L	ENST00000511817		179	cGg/cTg	0	1		UPI000006DF4E	0	getma.org/pdb.php?prot=XRCC4_HUMAN&from=1&to=334&var=R179L	ENST00000338635		ENSG00000152422	12831		43	2.33		HGNC	p.R179L		XRCC4		SNV			1				ENST00000338635	protein_coding	getma.org/?cm=var&var=hg19,5,82499424,G,T&fts=all		Pfam_domain:PF06632,Superfamily_domains:SSF58022		R/L		T	medium	635/1579		getma.org/?cm=msa&ty=f&p=XRCC4_HUMAN&rb=1&re=334&var=R179L	deleterious(0)					XRCC4,missense_variant,p.Arg179Leu,ENST00000282268,NM_003401.3,NM_022406.2,NM_022550.2;XRCC4,missense_variant,p.Arg179Leu,ENST00000511817,;XRCC4,missense_variant,p.Arg179Leu,ENST00000338635,;XRCC4,missense_variant,p.Arg179Leu,ENST00000396027,;XRCC4,non_coding_transcript_exon_variant,,ENST00000509268,;XRCC4,non_coding_transcript_exon_variant,,ENST00000542685,;CTD-2110K23.1,downstream_gene_variant,,ENST00000468914,;							MODERATE	536/1011	R179L	XRCC4_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000342011		CCDS4059.1			1	
OTX1	0	LGGM	GRCh37	2	63281176	63281176	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	9	4	.	.	ENST00000282549.2:c.98-6C>A		p.X33_splice	ENST00000282549	NM_014562.3			0	1	1	UPI0000130F36	0		ENST00000282549		ENSG00000115507	8521		13			HGNC	p.P69P		OTX1		SNV							ENST00000405984	protein_coding							A		-/2861				Q9P2R2_HUMAN,B4DM62_HUMAN			YES	OTX1,splice_region_variant,,ENST00000282549,NM_014562.3;OTX1,splice_region_variant,,ENST00000366671,NM_001199770.1;OTX1,synonymous_variant,p.=,ENST00000405984,;OTX1,downstream_gene_variant,,ENST00000484066,;OTX1,downstream_gene_variant,,ENST00000477348,;OTX1,downstream_gene_variant,,ENST00000476383,;							LOW	-/1065		OTX1_HUMAN			Transcript			.	ENSP00000282549		CCDS1873.1			1	
MPPED1	0	LGGM	GRCh37	22	43870698	43870698	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	81	4	.	.	ENST00000417669.2:c.489C>A	p.Ile163=	p.I163=	ENST00000417669		163	atC/atA	0	1	1	UPI000006DF41	0		ENST00000417669		ENSG00000186732	1306		85			HGNC	p.I163I		MPPED1		SNV							ENST00000542779	protein_coding			Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Superfamily_domains:SSF56300		I		A		933/3657				Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN			YES	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.=,ENST00000439548,;MPPED1,synonymous_variant,p.=,ENST00000414469,;							LOW	489/981		MPPD1_HUMAN			Transcript			.	ENSP00000388137		CCDS46723.1			1	
PCM1	0	LGGM	GRCh37	8	17867065	17867065	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	82	4	.	.	ENST00000325083.8:c.4972G>A	p.Ala1658Thr	p.A1658T	ENST00000325083	NM_006197.3	1658	Gca/Aca	0	1	1	UPI0000210A25	0	NA	ENST00000325083		ENSG00000078674	8727		86	1.155		HGNC	p.A357T		PCM1		SNV			1				ENST00000327578	protein_coding	getma.org/?cm=var&var=hg19,8,17867065,G,A&fts=all		hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12		A/T		A	low	5411/6820		getma.org/?cm=msa&ty=f&p=PCM1_HUMAN&rb=1162&re=2021&var=A1658T	tolerated(0.23)	E5RGQ4_HUMAN			YES	PCM1,missense_variant,p.Ala1658Thr,ENST00000325083,NM_006197.3;PCM1,missense_variant,p.Ala1650Thr,ENST00000519253,;PCM1,missense_variant,p.Ala1604Thr,ENST00000524226,;PCM1,missense_variant,p.Ala357Thr,ENST00000327578,;PCM1,missense_variant,p.Ala398Thr,ENST00000522275,;PCM1,upstream_gene_variant,,ENST00000524203,;PCM1,non_coding_transcript_exon_variant,,ENST00000521338,;PCM1,upstream_gene_variant,,ENST00000519802,;PCM1,upstream_gene_variant,,ENST00000518877,;							MODERATE	4972/6075	A1658T	PCM1_HUMAN			Transcript		benign(0.008)	.	ENSP00000327077		CCDS47812.1			1	
PRKDC	0	LGGM	GRCh37	8	48869786	48869786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	69	4	.	.	ENST00000314191.2:c.269G>T	p.Cys90Phe	p.C90F	ENST00000314191	NM_006904.6	90	tGt/tTt	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		73			HGNC	p.C90F		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371		C/F		A		326/13506				F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Cys90Phe,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Cys90Phe,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,;							MODERATE	269/12384		PRKDC_HUMAN			Transcript		benign(0.008)	.	ENSP00000313420					1	
CECR5	0	LGGM	GRCh37	22	17619520	17619520	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	82	5	.	.	ENST00000336737.4:c.855C>A	p.Tyr285Ter	p.Y285*	ENST00000336737	NM_033070.2	285	taC/taA	0	1	1	UPI000000D9E5	0	NA	ENST00000336737		ENSG00000069998	1843		87	0		HGNC	p.Y285X	rs751919499	CECR5	6.06E-05	SNV							ENST00000336737	protein_coding	getma.org/?cm=var&var=hg19,22,17619520,G,T&fts=all		hmmpanther:PTHR14269:SF10,hmmpanther:PTHR14269,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01456,TIGRFAM_domain:TIGR01460,Superfamily_domains:SSF56784		Y/*		T	NA	881/1799		NA					YES	CECR5,stop_gained,p.Tyr285Ter,ENST00000336737,NM_033070.2;CECR5,stop_gained,p.Tyr255Ter,ENST00000155674,NM_017829.5;CECR5,intron_variant,,ENST00000399852,;CECR5,non_coding_transcript_exon_variant,,ENST00000477157,;CECR5,non_coding_transcript_exon_variant,,ENST00000486462,;							HIGH	855/1272	Y285*	CECR5_HUMAN			Transcript			.	ENSP00000337358	8.24E-06	CCDS33595.1			1	
NFYC	0	LGGM	GRCh37	1	41228659	41228659	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	12	5	.	.	ENST00000425457.2:c.661C>G	p.Gln221Glu	p.Q221E	ENST00000425457	NM_001142588.1	221	Cag/Gag	0	1		UPI000012717E	0	NA	ENST00000308733		ENSG00000066136	7806		17	2.005		HGNC	p.Q221E		NFYC		SNV							ENST00000425457	protein_coding	getma.org/?cm=var&var=hg19,1,41228659,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8		Q/E		G	medium	667/2158		getma.org/?cm=msa&ty=f&p=NFYC_HUMAN&rb=106&re=305&var=Q221E	deleterious_low_confidence(0)	Q8TCN9_HUMAN,Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN				NFYC,missense_variant,p.Gln221Glu,ENST00000372652,;NFYC,missense_variant,p.Gln221Glu,ENST00000308733,;NFYC,missense_variant,p.Gln221Glu,ENST00000447388,NM_014223.4,NM_001142587.1;NFYC,missense_variant,p.Gln221Glu,ENST00000456393,;NFYC,missense_variant,p.Gln221Glu,ENST00000440226,;NFYC,missense_variant,p.Gln221Glu,ENST00000425457,NM_001142588.1;NFYC,missense_variant,p.Gln221Glu,ENST00000372654,;NFYC,missense_variant,p.Gln183Glu,ENST00000427410,NM_001142589.1;NFYC,missense_variant,p.Gln221Glu,ENST00000372651,;NFYC,missense_variant,p.Gln221Glu,ENST00000372669,;NFYC,missense_variant,p.Gln104Glu,ENST00000414185,;NFYC,splice_region_variant,,ENST00000372653,NM_001142590.1;NFYC,downstream_gene_variant,,ENST00000416859,;NFYC,downstream_gene_variant,,ENST00000525290,;NFYC,upstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000424419,;NFYC,non_coding_transcript_exon_variant,,ENST00000525349,;NFYC,downstream_gene_variant,,ENST00000467203,;							MODERATE	661/1377	Q221E	NFYC_HUMAN			Transcript		possibly_damaging(0.814)	.	ENSP00000312617					1	
TAOK2	0	LGGM	GRCh37	16	29998603	29998603	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	7	7	.	.	ENST00000308893.4:c.3010C>G	p.Leu1004Val	p.L1004V	ENST00000308893	NM_016151.3	1004	Ctg/Gtg	0	1	1	UPI000013EDDA	0	NA	ENST00000308893		ENSG00000149930	16835		14	0.55		HGNC	p.L891V		TAOK2		SNV							ENST00000543033	protein_coding	getma.org/?cm=var&var=hg19,16,29998603,C,G&fts=all		Transmembrane_helices:TMhelix		L/V		G	neutral	4053/5169		getma.org/?cm=msa&ty=f&p=TAOK2_HUMAN&rb=748&re=1233&var=L1004V	tolerated_low_confidence(0.19)				YES	TAOK2,missense_variant,p.Leu1004Val,ENST00000308893,NM_016151.3,NM_001252043.1;TAOK2,missense_variant,p.Leu831Val,ENST00000416441,;TAOK2,missense_variant,p.Leu891Val,ENST00000543033,;TAOK2,intron_variant,,ENST00000279394,NM_004783.3;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,;							MODERATE	3010/3708	L1004V	TAOK2_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000310094		CCDS10663.1			1	
TP53	0	LGGM	GRCh37	17	7577580	7577580	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071859	H071859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	3	7	.	.	ENST00000269305.4:c.701A>G	p.Tyr234Cys	p.Y234C	ENST00000269305	NM_001126112.2	234	tAc/tGc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y234C	ENST00000269305	pathogenic	ENSG00000141510	11998		10	2.93		HGNC	p.Y234C	rs587780073,TP53_g.13338A>G,COSM10725,COSM165073,COSM165072,COSM3388193,COSM1646849,COSM165074	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7577580,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/C		C	medium	891/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y234C	deleterious(0)	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			YES	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,;					0,0,1,1,1,1,1,1		MODERATE	701/1182	Y234C	P53_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000269305		CCDS11118.1			1	
TRERF1	0	LGGM	GRCh37	6	42227273	42227273	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	16	7	.	.	ENST00000372922.4:c.2073C>T	p.Arg691=	p.R691=	ENST00000372922	NM_033502.2	691	cgC/cgT	0	1	1	UPI0000052952	0		ENST00000372922		ENSG00000124496	18273		23			HGNC	p.R608R		TRERF1		SNV							ENST00000340840	protein_coding			hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089		R		A		2636/7286							YES	TRERF1,synonymous_variant,p.=,ENST00000541110,;TRERF1,synonymous_variant,p.=,ENST00000372917,;TRERF1,synonymous_variant,p.=,ENST00000372922,NM_033502.2;TRERF1,synonymous_variant,p.=,ENST00000340840,;TRERF1,synonymous_variant,p.=,ENST00000354325,;							LOW	2073/3603		TREF1_HUMAN			Transcript			.	ENSP00000362013		CCDS4867.1			1	
MYO15A	0	LGGM	GRCh37	17	18049245	18049245	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	0	8	.	.	ENST00000205890.5:c.6333C>A	p.Asn2111Lys	p.N2111K	ENST00000205890	NM_016239.3	2111	aaC/aaA	0	1	1	UPI0000E59E6E	0	getma.org/pdb.php?prot=MYO15_HUMAN&from=2105&to=2217&var=N2111K	ENST00000205890		ENSG00000091536	7594		8	1.965		HGNC	p.N2111K		MYO15A		SNV			1				ENST00000205890	protein_coding	getma.org/?cm=var&var=hg19,17,18049245,C,A&fts=all		Pfam_domain:PF00784,PROSITE_profiles:PS51016,SMART_domains:SM00139		N/K		A	medium	6671/11863		getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=2105&re=2217&var=N2111K		K7EQV1_HUMAN,G3V4G3_HUMAN			YES	MYO15A,missense_variant,p.Asn2111Lys,ENST00000205890,NM_016239.3;snoU13,upstream_gene_variant,,ENST00000459354,;MYO15A,downstream_gene_variant,,ENST00000412324,;MYO15A,upstream_gene_variant,,ENST00000578999,;							MODERATE	6333/10593	N2111K	MYO15_HUMAN			Transcript		unknown(0)	.	ENSP00000205890		CCDS42271.1			1	
MYO6	0	LGGM	GRCh37	6	76572427	76572427	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	28	9	.	.	ENST00000369977.3:c.1661A>G	p.His554Arg	p.H554R	ENST00000369977	NM_004999.3	554	cAt/cGt	0	1	1	UPI00000727CF	0	getma.org/pdb.php?prot=MYO6_HUMAN&from=59&to=759&var=H554R	ENST00000369977		ENSG00000196586	7605		37	3.23		HGNC	p.H554R		MYO6		SNV			1				ENST00000369981	protein_coding	getma.org/?cm=var&var=hg19,6,76572427,A,G&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF346,SMART_domains:SM00242,Superfamily_domains:SSF52540		H/R		G	medium	1800/5597		getma.org/?cm=msa&ty=f&p=MYO6_HUMAN&rb=59&re=759&var=H554R	deleterious(0)	Q14784_HUMAN			YES	MYO6,missense_variant,p.His554Arg,ENST00000369981,;MYO6,missense_variant,p.His554Arg,ENST00000369985,;MYO6,missense_variant,p.His554Arg,ENST00000369977,NM_004999.3;MYO6,missense_variant,p.His554Arg,ENST00000369975,;snoU13,upstream_gene_variant,,ENST00000459013,;RNA5SP209,downstream_gene_variant,,ENST00000411237,;MYO6,upstream_gene_variant,,ENST00000462633,;							MODERATE	1661/3858	H554R	MYO6_HUMAN			Transcript		unknown(0)	.	ENSP00000358994		CCDS34487.1			1	
RB1	0	LGGM	GRCh37	13	48954220	48954220	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	3	9	.	.	ENST00000267163.4:c.1421G>A	p.Ser474Asn	p.S474N	ENST00000267163	NM_000321.2	474	aGc/aAc	0	1	1	UPI0000001C79	0	getma.org/pdb.php?prot=RB_HUMAN&from=373&to=573&var=S474N	ENST00000267163		ENSG00000139687	9884		12	2.355		HGNC	p.S474N	COSM1050	RB1		SNV			1			1	ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48954220,G,A&fts=all		hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954		S/N		A	medium	1559/4840		getma.org/?cm=msa&ty=f&p=RB_HUMAN&rb=373&re=573&var=S474N	deleterious(0)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,missense_variant,p.Ser474Asn,ENST00000267163,NM_000321.2;					1		MODERATE	1421/2787	S474N	RB_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000267163		CCDS31973.1			1	
MAP3K12	0	LGGM	GRCh37	12	53880258	53880258	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	7	10	.	.	ENST00000547035.1:c.594G>A	p.Leu198=	p.L198=	ENST00000547035		198	ttG/ttA	0	1		UPI00000730A5	0		ENST00000267079		ENSG00000139625	6851		17			HGNC	p.L198L		MAP3K12		SNV							ENST00000547035	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF397,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00220,PIRSF_domain:PIRSF500741,PIRSF_domain:PIRSF038165,Superfamily_domains:SSF56112		L		T		721/3492				H3BMF0_HUMAN				MAP3K12,synonymous_variant,p.=,ENST00000267079,NM_006301.3,NM_001193511.1;MAP3K12,synonymous_variant,p.=,ENST00000547035,;MAP3K12,synonymous_variant,p.=,ENST00000547488,;MAP3K12,downstream_gene_variant,,ENST00000548565,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547151,;MAP3K12,synonymous_variant,p.=,ENST00000552365,;MAP3K12,non_coding_transcript_exon_variant,,ENST00000547020,;MAP3K12,upstream_gene_variant,,ENST00000551511,;MAP3K12,downstream_gene_variant,,ENST00000551895,;MAP3K12,upstream_gene_variant,,ENST00000548690,;MAP3K12,downstream_gene_variant,,ENST00000547803,;							LOW	495/2580		M3K12_HUMAN			Transcript			.	ENSP00000267079		CCDS8860.1			1	
NSUN5	0	LGGM	GRCh37	7	72717652	72717652	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071859	H071859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	15	11	.	.	ENST00000310326.8:c.1231A>T	p.Thr411Ser	p.T411S	ENST00000310326		411	Acc/Tcc	0	1		UPI0000071AE4	0	getma.org/pdb.php?prot=NSUN5_HUMAN&from=164&to=423&var=T411S	ENST00000252594		ENSG00000130305	16385		26	0.815		HGNC	p.T411S		NSUN5		SNV							ENST00000310326	protein_coding	getma.org/?cm=var&var=hg19,7,72717652,T,A&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF01189,Prints_domain:PR02008,PROSITE_profiles:PS51686,hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4,Superfamily_domains:SSF53335		T/S		A	low	1247/1672		getma.org/?cm=msa&ty=f&p=NSUN5_HUMAN&rb=164&re=423&var=T411S	tolerated(0.53)					NSUN5,missense_variant,p.Thr373Ser,ENST00000428206,NM_001168348.2;NSUN5,missense_variant,p.Thr411Ser,ENST00000252594,;NSUN5,missense_variant,p.Thr411Ser,ENST00000438747,NM_001168347.2,NM_148956.3,NM_018044.4;NSUN5,missense_variant,p.Thr411Ser,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,;							MODERATE	1231/1290	T411S	NSUN5_HUMAN			Transcript		benign(0.002)	.	ENSP00000252594		CCDS5547.1			1	
MDN1	0	LGGM	GRCh37	6	90384108	90384108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	12	12	.	.	ENST00000369393.3:c.12962G>A	p.Gly4321Asp	p.G4321D	ENST00000369393		4321	gGc/gAc	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		24	0.895		HGNC	p.G4321D		MDN1		SNV							ENST00000369393	protein_coding	getma.org/?cm=var&var=hg19,6,90384108,C,T&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		G/D		T	low	13078/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=3215&re=4787&var=G4321D		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Gly4321Asp,ENST00000369393,;MDN1,missense_variant,p.Gly4321Asp,ENST00000428876,NM_014611.1;RP1-122O8.7,intron_variant,,ENST00000438877,;MDN1,upstream_gene_variant,,ENST00000468568,;							MODERATE	12962/16791	G4321D	MDN1_HUMAN			Transcript		benign(0.001)	.	ENSP00000358400		CCDS5024.1			1	
CHEK2	0	LGGM	GRCh37	22	29121107	29121107	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	80	12	.	.	ENST00000328354.6:c.450G>A	p.Val150=	p.V150=	ENST00000328354	NM_007194.3	150	gtG/gtA	0	1		UPI00000316FF	0		ENST00000328354		ENSG00000183765	16627		92			HGNC	p.V150V	rs771386331	CHEK2		SNV			1				ENST00000404276	protein_coding			PROSITE_profiles:PS50006,hmmpanther:PTHR24344:SF21,hmmpanther:PTHR24344,Pfam_domain:PF00498,Gene3D:2.60.200.20,SMART_domains:SM00240,Superfamily_domains:SSF49879		V		T		532/1867	1.50E-05			B7ZBF2_HUMAN				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.=,ENST00000402731,;CHEK2,synonymous_variant,p.=,ENST00000439200,;CHEK2,synonymous_variant,p.=,ENST00000398017,;CHEK2,5_prime_UTR_variant,,ENST00000544772,NM_001257387.1;CHEK2,5_prime_UTR_variant,,ENST00000425190,;CHEK2,intron_variant,,ENST00000382578,;CHEK2,intron_variant,,ENST00000403642,;CHEK2,intron_variant,,ENST00000447421,;CHEK2,intron_variant,,ENST00000382565,;CHEK2,synonymous_variant,p.=,ENST00000416671,;CHEK2,synonymous_variant,p.=,ENST00000433728,;CHEK2,synonymous_variant,p.=,ENST00000417588,;CHEK2,synonymous_variant,p.=,ENST00000439346,;CHEK2,3_prime_UTR_variant,,ENST00000454252,;CHEK2,intron_variant,,ENST00000448511,;CHEK2,intron_variant,,ENST00000433028,;							LOW	450/1632		CHK2_HUMAN			Transcript			.	ENSP00000329178	8.24E-06	CCDS13843.1			1	
HS3ST3B1	0	LGGM	GRCh37	17	14248427	14248427	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	5	12	.	.	ENST00000360954.2:c.637C>T	p.Arg213Cys	p.R213C	ENST00000360954	NM_006041.1	213	Cgc/Tgc	0	1	1	UPI0000038167	0	getma.org/pdb.php?prot=HS3SB_HUMAN&from=137&to=385&var=R213C	ENST00000360954		ENSG00000125430	5198		17	4.19		HGNC	p.R213C		HS3ST3B1		SNV							ENST00000466596	protein_coding	getma.org/?cm=var&var=hg19,17,14248427,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF9,Superfamily_domains:SSF52540		R/C		T	high	1073/5367		getma.org/?cm=msa&ty=f&p=HS3SB_HUMAN&rb=137&re=385&var=R213C	deleterious(0.01)				YES	HS3ST3B1,missense_variant,p.Arg213Cys,ENST00000360954,NM_006041.1;HS3ST3B1,missense_variant,p.Arg213Cys,ENST00000466596,;							MODERATE	637/1173	R213C	HS3SB_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000354213		CCDS11167.1			1	
MUC4	0	LGGM	GRCh37	3	195515586	195515586	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	5	13	.	.	ENST00000463781.3:c.2865C>A	p.His955Gln	p.H955Q	ENST00000463781	NM_018406.6	955	caC/caA	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		18	0.345		HGNC	p.H955Q		MUC4		SNV							ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195515586,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		H/Q		T	neutral	3325/17110		getma.org/?cm=msa&ty=f&p=MUC4_HUMAN&rb=1&re=1061&var=H960Q		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.His955Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.His955Gln,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.His955Gln,ENST00000478156,;MUC4,missense_variant,p.His955Gln,ENST00000466475,;MUC4,missense_variant,p.His955Gln,ENST00000477756,;MUC4,missense_variant,p.His955Gln,ENST00000477086,;MUC4,missense_variant,p.His955Gln,ENST00000480843,;MUC4,missense_variant,p.His955Gln,ENST00000462323,;MUC4,missense_variant,p.His955Gln,ENST00000470451,;MUC4,missense_variant,p.His955Gln,ENST00000479406,;							MODERATE	2865/16239	H960Q				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
SCYL1	0	LGGM	GRCh37	11	65298220	65298220	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	36	13	.	.	ENST00000270176.5:c.970G>A	p.Gly324Ser	p.G324S	ENST00000270176	NM_020680.3	324	Ggc/Agc	0	1	1	UPI0000035B94	0	NA	ENST00000270176		ENSG00000142186	14372		49	2.255		HGNC	p.G324S		SCYL1		SNV							ENST00000420247	protein_coding	getma.org/?cm=var&var=hg19,11,65298220,G,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984		G/S		A	medium	1047/2642		getma.org/?cm=msa&ty=f&p=NTKL_HUMAN&rb=250&re=449&var=G324S	deleterious(0.03)	E9PPN3_HUMAN			YES	SCYL1,missense_variant,p.Gly324Ser,ENST00000524944,;SCYL1,missense_variant,p.Gly324Ser,ENST00000270176,NM_020680.3;SCYL1,missense_variant,p.Gly181Ser,ENST00000527009,;SCYL1,missense_variant,p.Gly324Ser,ENST00000525364,;SCYL1,missense_variant,p.Gly324Ser,ENST00000420247,NM_001048218.1;SCYL1,missense_variant,p.Gly324Ser,ENST00000533862,;SCYL1,missense_variant,p.Gly324Ser,ENST00000279270,;SCYL1,upstream_gene_variant,,ENST00000526454,;SCYL1,upstream_gene_variant,,ENST00000531601,;SCYL1,upstream_gene_variant,,ENST00000524897,;SCYL1,upstream_gene_variant,,ENST00000529178,;SCYL1,upstream_gene_variant,,ENST00000529981,;							MODERATE	970/2427	G324S	NTKL_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000270176		CCDS41672.1			1	
SNRNP200	0	LGGM	GRCh37	2	96971134	96971134	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	47	15	.	.	ENST00000323853.5:c.42G>A	p.Lys14=	p.K14=	ENST00000323853	NM_014014.4	14	aaG/aaA	0	1	1	UPI0000207C53	0		ENST00000323853		ENSG00000144028	30859		62			HGNC	p.K14K		SNRNP200		SNV			1				ENST00000349783	protein_coding					K		T		120/7165				Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN			YES	SNRNP200,synonymous_variant,p.=,ENST00000323853,NM_014014.4;SNRNP200,synonymous_variant,p.=,ENST00000349783,;AC021188.4,downstream_gene_variant,,ENST00000421534,;							LOW	42/6411		U520_HUMAN			Transcript			.	ENSP00000317123		CCDS2020.1			1	
USP24	0	LGGM	GRCh37	1	55604377	55604377	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	28	15	.	.	ENST00000294383.6:c.2832T>G	p.Val944=	p.V944=	ENST00000294383	NM_015306.2	944	gtT/gtG	0	1	1	UPI000059CFDE	0		ENST00000294383		ENSG00000162402	12623		43			HGNC	p.V944V		USP24		SNV							ENST00000294383	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		V		C		2832/10549							YES	USP24,synonymous_variant,p.=,ENST00000294383,NM_015306.2;USP24,synonymous_variant,p.=,ENST00000407756,;							LOW	2832/7863		UBP24_HUMAN			Transcript			.	ENSP00000294383		CCDS44154.2			1	
CBL	0	LGGM	GRCh37	11	119169221	119169221	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	17	15	.	.	ENST00000264033.4:c.2405G>A	p.Trp802Ter	p.W802*	ENST00000264033	NM_005188.3	802	tGg/tAg	0	1	1	UPI000013D4A7	0	NA	ENST00000264033		ENSG00000110395	1541		32	0		HGNC	p.W802X	COSM1351852	CBL		SNV			1			1	ENST00000264033	protein_coding	getma.org/?cm=var&var=hg19,11,119169221,G,A&fts=all		hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5		W/*		A	NA	2781/11465		NA					YES	CBL,stop_gained,p.Trp802Ter,ENST00000264033,NM_005188.3;					1		HIGH	2405/2721	W802*	CBL_HUMAN			Transcript			.	ENSP00000264033		CCDS8418.1			1	
PRPF38A	0	LGGM	GRCh37	1	52874269	52874269	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	19	16	.	.	ENST00000257181.9:c.319A>G	p.Met107Val	p.M107V	ENST00000257181	NM_032864.3	107	Atg/Gtg	0	1	1	UPI000006D9C2	0	NA	ENST00000257181		ENSG00000134748	25930		35	1.235		HGNC	p.M107V		PRPF38A		SNV							ENST00000257181	protein_coding	getma.org/?cm=var&var=hg19,1,52874269,A,G&fts=all		hmmpanther:PTHR23142,Pfam_domain:PF03371		M/V		G	low	505/5274		getma.org/?cm=msa&ty=f&p=PR38A_HUMAN&rb=6&re=177&var=M107V	tolerated(0.09)				YES	PRPF38A,missense_variant,p.Met107Val,ENST00000257181,NM_032864.3;ZCCHC11,intron_variant,,ENST00000528457,;ORC1,upstream_gene_variant,,ENST00000371568,NM_001190818.1,NM_001190819.1,NM_004153.3;ORC1,upstream_gene_variant,,ENST00000371566,;snoU13,upstream_gene_variant,,ENST00000458879,;PRPF38A,non_coding_transcript_exon_variant,,ENST00000487160,;PRPF38A,intron_variant,,ENST00000474048,;ZCCHC11,intron_variant,,ENST00000527941,;							MODERATE	319/939	M107V	PR38A_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000257181		CCDS567.1			1	
NBPF10	0	LGGM	GRCh37	1	145304472	145304472	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	277	17	.	.	ENST00000342960.5:c.1405G>T	p.Glu469Ter	p.E469*	ENST00000342960	NM_001039703.5	469	Gaa/Taa	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		294	0		HGNC	p.E394X		NBPF10		SNV							ENST00000448873	protein_coding	getma.org/?cm=var&var=hg19,1,145304472,G,T&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		E/*		T	NA	1440/10697		NA		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,stop_gained,p.Glu469Ter,ENST00000342960,NM_001039703.5;NBPF10,stop_gained,p.Glu198Ter,ENST00000369339,;NBPF10,stop_gained,p.Glu198Ter,ENST00000369338,;NBPF10,stop_gained,p.Glu135Ter,ENST00000605176,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,stop_gained,p.Glu469Ter,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;							HIGH	1405/10662	E211*				Transcript			.	ENSP00000345684					1	
KRT2	0	LGGM	GRCh37	12	53038930	53038930	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	116	17	.	.	ENST00000309680.3:c.1793C>A	p.Ser598Tyr	p.S598Y	ENST00000309680	NM_000423.2	598	tCt/tAt	0	1	1	UPI0000367804	0	NA	ENST00000309680		ENSG00000172867	6439		133	0		HGNC	p.S598Y		KRT2		SNV			1				ENST00000309680	protein_coding	getma.org/?cm=var&var=hg19,12,53038930,G,T&fts=all		hmmpanther:PTHR23239:SF134,hmmpanther:PTHR23239,Low_complexity_(Seg):seg		S/Y		T	neutral	1815/2403		getma.org/?cm=msa&ty=f&p=K22E_HUMAN&rb=491&re=639&var=S598Y	deleterious_low_confidence(0)				YES	KRT2,missense_variant,p.Ser598Tyr,ENST00000309680,NM_000423.2;KRT2,downstream_gene_variant,,ENST00000547106,;							MODERATE	1793/1920	S598Y	K22E_HUMAN			Transcript		unknown(0)	.	ENSP00000310861		CCDS8835.1			1	
ZNF407	0	LGGM	GRCh37	18	72632541	72632541	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	41	19	.	.	ENST00000299687.5:c.5321A>G	p.Asn1774Ser	p.N1774S	ENST00000299687	NM_017757.2	1774	aAc/aGc	0	1	1	UPI0000F58ED1	0	NA	ENST00000299687		ENSG00000215421	19904		60	1.01		HGNC	p.N1774S	COSM1233993	ZNF407		SNV						1	ENST00000577538	protein_coding	getma.org/?cm=var&var=hg19,18,72632541,A,G&fts=all		hmmpanther:PTHR24402:SF5,hmmpanther:PTHR24402,Pfam_domain:PF13909,SMART_domains:SM00355		N/S		G	low	5321/7948		getma.org/?cm=msa&ty=f&p=ZN407_HUMAN&rb=1753&re=1817&var=N1774S	deleterious(0.01)				YES	ZNF407,missense_variant,p.Asn1774Ser,ENST00000299687,NM_017757.2;ZNF407,missense_variant,p.Asn1774Ser,ENST00000577538,NM_001146189.1;					1		MODERATE	5321/6747	N1774S	ZN407_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000299687		CCDS45885.1			1	
HSD17B4	0	LGGM	GRCh37	5	118866975	118866975	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	9	20	.	.	ENST00000504811.1:c.1944G>A	p.Gln648=	p.Q648=	ENST00000504811	NM_001199291.1	648	caG/caA	0	1		UPI0000000C4F	0		ENST00000256216		ENSG00000133835	5213		29			HGNC	p.Q486Q		HSD17B4		SNV			1				ENST00000513628	protein_coding			Gene3D:3.30.1050.10,Superfamily_domains:SSF55718		Q		A		2002/2683				Q9UBA4_HUMAN,E7ET17_HUMAN				HSD17B4,synonymous_variant,p.=,ENST00000504811,NM_001199291.1;HSD17B4,synonymous_variant,p.=,ENST00000256216,NM_000414.3;HSD17B4,synonymous_variant,p.=,ENST00000510025,;HSD17B4,synonymous_variant,p.=,ENST00000414835,;HSD17B4,synonymous_variant,p.=,ENST00000515320,NM_001199292.1;HSD17B4,synonymous_variant,p.=,ENST00000509514,;HSD17B4,synonymous_variant,p.=,ENST00000513628,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000522415,;HSD17B4,intron_variant,,ENST00000509951,;HSD17B4,3_prime_UTR_variant,,ENST00000442060,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000515235,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000509606,;HSD17B4,upstream_gene_variant,,ENST00000503310,;HSD17B4,downstream_gene_variant,,ENST00000507353,;							LOW	1869/2211		DHB4_HUMAN			Transcript			.	ENSP00000256216		CCDS4126.1			1	
HTR2B	0	LGGM	GRCh37	2	231973567	231973567	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	31	21	.	.	ENST00000258400.3:c.1110T>C	p.Tyr370=	p.Y370=	ENST00000258400	NM_000867.4	370	taT/taC	0	1	1	UPI0000001C05	0		ENST00000258400		ENSG00000135914	5294		52			HGNC	p.Y370Y	rs781406222	HTR2B	0.000121	SNV							ENST00000258400	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF31,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		Y		G		1623/2246				B3VRD5_HUMAN,B3VRD0_HUMAN,B3VRC5_HUMAN			YES	HTR2B,synonymous_variant,p.=,ENST00000258400,NM_000867.4;PSMD1,intron_variant,,ENST00000308696,NM_002807.3;PSMD1,intron_variant,,ENST00000373635,NM_001191037.1;PSMD1,intron_variant,,ENST00000409643,;PSMD1,intron_variant,,ENST00000447633,;PSMD1,non_coding_transcript_exon_variant,,ENST00000488354,;PSMD1,intron_variant,,ENST00000431051,;							LOW	1110/1446		5HT2B_HUMAN			Transcript			.	ENSP00000258400	1.65E-05	CCDS2483.1			1	
SEC61A2	0	LGGM	GRCh37	10	12199981	12199981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	20	23	.	.	ENST00000298428.9:c.852C>A	p.Phe284Leu	p.F284L	ENST00000298428	NM_018144.3	284	ttC/ttA	0	1	1	UPI0000000B0A	0	getma.org/pdb.php?prot=S61A2_HUMAN&from=75&to=459&var=F284L	ENST00000298428		ENSG00000065665	17702		43	1.315		HGNC	p.F32L		SEC61A2		SNV							ENST00000426560	protein_coding	getma.org/?cm=var&var=hg19,10,12199981,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10906,Pfam_domain:PF00344,Gene3D:1.10.3370.10,TIGRFAM_domain:TIGR00967,PIRSF_domain:PIRSF004557,Superfamily_domains:0043235		F/L		A	low	941/1893		getma.org/?cm=msa&ty=f&p=S61A2_HUMAN&rb=75&re=459&var=F284L	tolerated(0.2)	Q9NVQ7_HUMAN			YES	SEC61A2,missense_variant,p.Phe262Leu,ENST00000379033,NM_001142628.1;SEC61A2,missense_variant,p.Phe284Leu,ENST00000304267,NM_001142627.1;SEC61A2,missense_variant,p.Phe284Leu,ENST00000298428,NM_018144.3;SEC61A2,missense_variant,p.Phe125Leu,ENST00000418772,;SEC61A2,intron_variant,,ENST00000379020,;SEC61A2,intron_variant,,ENST00000419021,;SEC61A2,downstream_gene_variant,,ENST00000379051,;SEC61A2,downstream_gene_variant,,ENST00000441368,;SEC61A2,downstream_gene_variant,,ENST00000379017,;SEC61A2,non_coding_transcript_exon_variant,,ENST00000495368,;SEC61A2,non_coding_transcript_exon_variant,,ENST00000466451,;SEC61A2,missense_variant,p.Phe284Leu,ENST00000475268,;SEC61A2,3_prime_UTR_variant,,ENST00000472221,;							MODERATE	852/1431	F284L	S61A2_HUMAN			Transcript		benign(0.09)	.	ENSP00000298428		CCDS7088.1			1	
CCZ1	0	LGGM	GRCh37	7	5949706	5949706	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071859	H071859N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	6	28	.	.	ENST00000325974.6:c.739T>C	p.Tyr247His	p.Y247H	ENST00000325974	NM_015622.5	247	Tac/Cac	0	1	1	UPI000006CEFF	0	NA	ENST00000325974		ENSG00000122674	21691		34	2.165		HGNC	p.Y104H		CCZ1		SNV							ENST00000537980	protein_coding	getma.org/?cm=var&var=hg19,7,5949706,T,C&fts=all		Pfam_domain:PF08217,hmmpanther:PTHR13056		Y/H		C	medium	805/1802		getma.org/?cm=msa&ty=f&p=CCZ1B_HUMAN&rb=201&re=400&var=Y247H	deleterious(0)	Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1,missense_variant,p.Tyr247His,ENST00000325974,NM_015622.5;CCZ1,missense_variant,p.Tyr104His,ENST00000537980,;CCZ1,non_coding_transcript_exon_variant,,ENST00000483394,;							MODERATE	739/1449	Y247H	CCZ1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000325681		CCDS34597.1			1	
FLG	0	LGGM	GRCh37	1	152278920	152278920	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	179	30	.	.	ENST00000368799.1:c.8442C>A	p.Ser2814=	p.S2814=	ENST00000368799	NM_002016.1	2814	tcC/tcA	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748		209			HGNC	p.S2814S	rs767904493	FLG	0.00266	SNV			1				ENST00000368799	protein_coding			Low_complexity_(Seg):seg		S		T		8478/12747				Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							LOW	8442/12186		FILA_HUMAN			Transcript			common_variant	ENSP00000357789	0.000363	CCDS30860.1			1	
GALNT3	0	LGGM	GRCh37	2	166606305	166606305	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	73	31	.	.	ENST00000392701.3:c.1726T>G	p.Tyr576Asp	p.Y576D	ENST00000392701	NM_004482.3	576	Tac/Gac	0	1	1	UPI000013C989	0	getma.org/pdb.php?prot=GALT3_HUMAN&from=505&to=627&var=Y576D	ENST00000392701		ENSG00000115339	4125		104	1.905		HGNC	p.Y314D		GALNT3		SNV			1				ENST00000409882	protein_coding	getma.org/?cm=var&var=hg19,2,166606305,A,C&fts=all		PROSITE_profiles:PS50231,hmmpanther:PTHR11675:SF33,hmmpanther:PTHR11675,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370		Y/D		C	medium	2502/3868		getma.org/?cm=msa&ty=f&p=GALT3_HUMAN&rb=505&re=627&var=Y576D	tolerated(0.19)	C9JXX2_HUMAN,C9JW45_HUMAN,C9J388_HUMAN,C9J2C3_HUMAN			YES	GALNT3,missense_variant,p.Tyr576Asp,ENST00000392701,NM_004482.3;GALNT3,missense_variant,p.Tyr314Asp,ENST00000409882,;							MODERATE	1726/1902	Y576D	GALT3_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000376465		CCDS2226.1			1	
HERC6	0	LGGM	GRCh37	4	89345051	89345051	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071859	H071859N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	9	32	.	.	ENST00000264346.7:c.1753A>T	p.Asn585Tyr	p.N585Y	ENST00000264346	NM_017912.3	585	Aac/Tac	0	1	1	UPI00004C7A84	0	NA	ENST00000264346		ENSG00000138642	26072		41	0.84		HGNC	p.N585Y		HERC6		SNV							ENST00000380265	protein_coding	getma.org/?cm=var&var=hg19,4,89345051,A,T&fts=all		hmmpanther:PTHR11254:SF297,hmmpanther:PTHR11254		N/Y		T	low	1812/3779		getma.org/?cm=msa&ty=f&p=HERC6_HUMAN&rb=503&re=702&var=N585Y	tolerated(1)	B3KUG6_HUMAN			YES	HERC6,missense_variant,p.Asn585Tyr,ENST00000380265,NM_001165136.1;HERC6,missense_variant,p.Asn585Tyr,ENST00000264346,NM_017912.3;							MODERATE	1753/3069	N585Y	HERC6_HUMAN			Transcript		benign(0.017)	.	ENSP00000264346		CCDS47098.1			1	
MPHOSPH8	0	LGGM	GRCh37	13	20235861	20235861	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071859	H071859N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	140	43	.	.	ENST00000361479.5:c.1815G>A	p.Val605=	p.V605=	ENST00000361479	NM_017520.3	605	gtG/gtA	0	1	1	UPI0000051C18	0		ENST00000361479		ENSG00000196199	29810		183			HGNC	p.V605V		MPHOSPH8		SNV							ENST00000414242	protein_coding			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24188:SF6,hmmpanther:PTHR24188,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		V		A		1883/4235							YES	MPHOSPH8,synonymous_variant,p.=,ENST00000361479,NM_017520.3;MPHOSPH8,synonymous_variant,p.=,ENST00000414242,;MPHOSPH8,downstream_gene_variant,,ENST00000467481,;							LOW	1815/2583		MPP8_HUMAN			Transcript			.	ENSP00000355388		CCDS9287.1			1	
ITPR1	0	LGGM	GRCh37	3	4735212	4735212	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071859	H071859N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071859N.bam, H071859T.bam	Illumina HiSeq	17	82	.	.	ENST00000302640.8:c.4023C>T	p.Asn1341=	p.N1341=	ENST00000302640	NM_001168272.1	1341	aaC/aaT	0	1		UPI00015E0852	0		ENST00000354582		ENSG00000150995	6180	8.64E-05	99			HGNC	p.N1341N	rs542486327	ITPR1	0.000182	SNV			1	0.000102			ENST00000443694	protein_coding		T:0	Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52		N		T		4418/10197	5.99E-05			E7EVP7_HUMAN	T:0.0014	T:0		ITPR1,synonymous_variant,p.=,ENST00000354582,;ITPR1,synonymous_variant,p.=,ENST00000302640,NM_001168272.1;ITPR1,synonymous_variant,p.=,ENST00000423119,NM_001099952.2;ITPR1,synonymous_variant,p.=,ENST00000357086,;ITPR1,synonymous_variant,p.=,ENST00000456211,NM_002222.5;ITPR1,synonymous_variant,p.=,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;		T:0.0004					LOW	4068/8232				T:0.001	Transcript			.	ENSP00000346595	7.44E-05			T:0	1	
MAPK8IP3	0	LGGM	GRCh37	16	1810534	1810534	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	20	3	.	.	ENST00000250894.4:c.1454+1G>T		p.X485_splice	ENST00000250894	NM_015133.3			0	1	1	UPI000034ECA7	0		ENST00000250894		ENSG00000138834	6884		23			HGNC	-		MAPK8IP3		SNV							ENST00000250894	protein_coding							T		-/5661							YES	MAPK8IP3,splice_donor_variant,,ENST00000250894,NM_015133.3;MAPK8IP3,splice_donor_variant,,ENST00000356010,NM_001040439.1;MAPK8IP3,splice_donor_variant,,ENST00000566589,;MAPK8IP3,downstream_gene_variant,,ENST00000567849,;MAPK8IP3,upstream_gene_variant,,ENST00000561949,;MAPK8IP3,upstream_gene_variant,,ENST00000570131,;							HIGH	1454/4011		JIP3_HUMAN			Transcript			.	ENSP00000250894		CCDS10442.2			1	
TIAM1	0	LGGM	GRCh37	21	32624099	32624099	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	38	3	.	.	ENST00000286827.3:c.1370C>T	p.Ala457Val	p.A457V	ENST00000286827	NM_003253.2	457	gCc/gTc	0	1	1	UPI000013DE6F	0	getma.org/pdb.php?prot=TIAM1_HUMAN&from=434&to=547&var=A457V	ENST00000286827		ENSG00000156299	11805		41	0		HGNC	p.A457V		TIAM1		SNV							ENST00000541036	protein_coding	getma.org/?cm=var&var=hg19,21,32624099,G,A&fts=all		SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826,PROSITE_profiles:PS50003		A/V		A	neutral	1842/7200		getma.org/?cm=msa&ty=f&p=TIAM1_HUMAN&rb=434&re=547&var=A457V	tolerated(0.8)	C9JMB5_HUMAN			YES	TIAM1,missense_variant,p.Ala457Val,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Ala457Val,ENST00000541036,;TIAM1,non_coding_transcript_exon_variant,,ENST00000469412,;							MODERATE	1370/4776	A457V	TIAM1_HUMAN			Transcript		benign(0.094)	.	ENSP00000286827		CCDS13609.1			1	
ZNF608	0	LGGM	GRCh37	5	124079989	124079989	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	34	3	.	.	ENST00000306315.5:c.694G>T	p.Gly232Trp	p.G232W	ENST00000306315	NM_020747.2	232	Ggg/Tgg	0	1	1	UPI000013EB23	0	NA	ENST00000306315		ENSG00000168916	29238		37	0.55		HGNC	p.G232W		ZNF608		SNV							ENST00000509799	protein_coding	getma.org/?cm=var&var=hg19,5,124079989,C,A&fts=all		hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4		G/W		A	neutral	1130/5958		getma.org/?cm=msa&ty=f&p=ZN608_HUMAN&rb=225&re=301&var=G232W	deleterious(0.04)	Q9UFL4_HUMAN,B3KPE6_HUMAN			YES	ZNF608,missense_variant,p.Gly232Trp,ENST00000306315,NM_020747.2;ZNF608,missense_variant,p.Gly232Trp,ENST00000513986,;ZNF608,missense_variant,p.Gly232Trp,ENST00000509799,;ZNF608,intron_variant,,ENST00000504926,;ZNF608,non_coding_transcript_exon_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000512940,;ZNF608,missense_variant,p.Gly232Trp,ENST00000505686,;							MODERATE	694/4539	G232W	ZN608_HUMAN			Transcript		possibly_damaging(0.544)	.	ENSP00000307746		CCDS34219.1			1	
PRAMEF20	0	LGGM	GRCh37	1	13743082	13743082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	35	3	.	.	ENST00000316412.5:c.271C>A	p.His91Asn	p.H91N	ENST00000316412	NM_001099852.1	91	Cac/Aac	0	1	1	UPI0000237232	0	NA	ENST00000316412		ENSG00000204478	25224		38	0.345		HGNC	p.H91N		PRAMEF20		SNV							ENST00000316412	protein_coding	getma.org/?cm=var&var=hg19,1,13743082,C,A&fts=all		PIRSF_domain:PIRSF038286,hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF21		H/N		A	neutral	370/1597		getma.org/?cm=msa&ty=f&p=PRA20_HUMAN&rb=1&re=200&var=H91N	deleterious(0)				YES	PRAMEF20,missense_variant,p.His91Asn,ENST00000316412,NM_001099852.1;PRAMEF20,missense_variant,p.His91Asn,ENST00000602960,;							MODERATE	271/1428	H91N	PRA20_HUMAN			Transcript		benign(0.047)	.	ENSP00000346275		CCDS41265.1			1	
CRTAP	0	LGGM	GRCh37	3	33171549	33171549	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	44	3	.	.	ENST00000320954.6:c.912C>A	p.Ala304=	p.A304=	ENST00000320954	NM_006371.4	304	gcC/gcA	0	1	1	UPI000012700A	0		ENST00000320954		ENSG00000170275	2379		47			HGNC	p.A304A		CRTAP		SNV			1				ENST00000320954	protein_coding			hmmpanther:PTHR13986,hmmpanther:PTHR13986:SF3		A		A		1011/6630				Q8NB01_HUMAN,B4DPA3_HUMAN			YES	CRTAP,synonymous_variant,p.=,ENST00000320954,NM_006371.4;CRTAP,intron_variant,,ENST00000449224,;CRTAP,non_coding_transcript_exon_variant,,ENST00000485310,;							LOW	912/1206		CRTAP_HUMAN			Transcript			.	ENSP00000323696		CCDS2657.1			1	
ESPL1	0	LGGM	GRCh37	12	53680023	53680023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	44	3	.	.	ENST00000257934.4:c.3503C>A	p.Ala1168Glu	p.A1168E	ENST00000257934	NM_012291.4	1168	gCa/gAa	0	1	1	UPI00003668C3	0	NA	ENST00000257934		ENSG00000135476	16856		47	2.28		HGNC	p.A1168E		ESPL1		SNV							ENST00000552462	protein_coding	getma.org/?cm=var&var=hg19,12,53680023,C,A&fts=all		hmmpanther:PTHR12792		A/E		A	medium	3594/6623		getma.org/?cm=msa&ty=f&p=ESPL1_HUMAN&rb=1&re=1299&var=A1168E	deleterious(0)	H3BRX7_HUMAN			YES	ESPL1,missense_variant,p.Ala1168Glu,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Ala1168Glu,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,intron_variant,,ENST00000553016,;ESPL1,intron_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000549154,;ESPL1,upstream_gene_variant,,ENST00000552600,;							MODERATE	3503/6363	A1168E	ESPL1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000257934		CCDS8852.1			1	
CPSF3L	0	LGGM	GRCh37	1	1248063	1248063	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	16	3	.	.	ENST00000540437.1:c.1330C>T	p.Pro444Ser	p.P444S	ENST00000540437	NM_001256456.1	444	Ccg/Tcg	0	1		UPI00000467EC	0	NA	ENST00000435064		ENSG00000127054	26052		19	2.455		HGNC	p.P409S	COSM3399621	CPSF3L		SNV						1	ENST00000545578	protein_coding	getma.org/?cm=var&var=hg19,1,1248063,G,A&fts=all		hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF11,Superfamily_domains:SSF56281		P/S		A	medium	1395/2148		getma.org/?cm=msa&ty=f&p=INT11_HUMAN&rb=419&re=600&var=P438S	deleterious(0)	J3QRY6_HUMAN,E9PNH9_HUMAN				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,;					1		MODERATE	1312/1803	P438S	INT11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000413493		CCDS21.1			1	
SLC12A4	0	LGGM	GRCh37	16	67979667	67979667	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	13	3	.	.	ENST00000422611.2:c.2853A>C	p.Glu951Asp	p.E951D	ENST00000422611	NM_001145962.1	951	gaA/gaC	0	1		UPI0000135421	0	NA	ENST00000316341		ENSG00000124067	10913		16	2.695		HGNC	p.E901D		SLC12A4		SNV							ENST00000572037	protein_coding	getma.org/?cm=var&var=hg19,16,67979667,T,G&fts=all		TIGRFAM_domain:TIGR00930,hmmpanther:PTHR11827:SF46,hmmpanther:PTHR11827		E/D		G	medium	2988/3911		getma.org/?cm=msa&ty=f&p=S12A4_HUMAN&rb=897&re=952&var=E949D	tolerated(0.15)	J3QRE2_HUMAN				SLC12A4,missense_variant,p.Glu951Asp,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Glu949Asp,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,missense_variant,p.Glu949Asp,ENST00000576616,;SLC12A4,missense_variant,p.Glu918Asp,ENST00000541864,NM_001145964.1;SLC12A4,missense_variant,p.Glu901Asp,ENST00000572037,;SLC12A4,missense_variant,p.Glu943Asp,ENST00000537830,NM_001145963.1;SLC12A4,splice_region_variant,,ENST00000338335,;LCAT,upstream_gene_variant,,ENST00000264005,NM_000229.1;LCAT,upstream_gene_variant,,ENST00000570980,;LCAT,upstream_gene_variant,,ENST00000576450,;LCAT,upstream_gene_variant,,ENST00000570369,;LCAT,upstream_gene_variant,,ENST00000570396,;CTC-479C5.17,upstream_gene_variant,,ENST00000590594,;SLC12A4,splice_region_variant,,ENST00000570802,;SLC12A4,splice_region_variant,,ENST00000575857,;SLC12A4,downstream_gene_variant,,ENST00000573023,;LCAT,upstream_gene_variant,,ENST00000573538,;SLC12A4,downstream_gene_variant,,ENST00000574665,;LCAT,upstream_gene_variant,,ENST00000575467,;SLC12A4,downstream_gene_variant,,ENST00000573702,;LCAT,upstream_gene_variant,,ENST00000575277,;SLC12A4,downstream_gene_variant,,ENST00000572476,;LCAT,upstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000572766,;SLC12A4,downstream_gene_variant,,ENST00000576513,;SLC12A4,upstream_gene_variant,,ENST00000570616,;							MODERATE	2847/3258	E949D	S12A4_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000318557		CCDS10855.1			1	
FBN3	0	LGGM	GRCh37	19	8200934	8200934	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	4	4	.	.	ENST00000600128.1:c.1502A>T	p.His501Leu	p.H501L	ENST00000600128		501	cAc/cTc	0	1		UPI000013D88F	0	getma.org/pdb.php?prot=FBN3_HUMAN&from=489&to=529&var=H501L	ENST00000270509		ENSG00000142449	18794		8	0.345		HGNC	p.H501L		FBN3		SNV							ENST00000600128	protein_coding	getma.org/?cm=var&var=hg19,19,8200934,T,A&fts=all		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		H/L		A	neutral	1788/9232		getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=489&re=529&var=H501L	tolerated(0.63)					FBN3,missense_variant,p.His501Leu,ENST00000600128,;FBN3,missense_variant,p.His501Leu,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.His501Leu,ENST00000601739,;							MODERATE	1502/8430	H501L	FBN3_HUMAN			Transcript		benign(0.232)	.	ENSP00000270509		CCDS12196.1			1	
TTC29	0	LGGM	GRCh37	4	147724711	147724711	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	40	4	.	.	ENST00000325106.4:c.1228C>T	p.Leu410Phe	p.L410F	ENST00000325106	NM_031956.2	410	Ctt/Ttt	0	1	1	UPI00001AE7CF	0	NA	ENST00000325106		ENSG00000137473	29936		44	1.5		HGNC	p.L436F		TTC29		SNV							ENST00000398886	protein_coding	getma.org/?cm=var&var=hg19,4,147724711,G,A&fts=all		hmmpanther:PTHR10098		L/F		A	low	1455/1785		getma.org/?cm=msa&ty=f&p=TTC29_HUMAN&rb=385&re=475&var=L410F	deleterious(0.03)	D6RJF6_HUMAN			YES	TTC29,missense_variant,p.Leu436Phe,ENST00000513335,;TTC29,missense_variant,p.Leu410Phe,ENST00000325106,NM_031956.2;TTC29,missense_variant,p.Leu410Phe,ENST00000504425,;TTC29,missense_variant,p.Leu436Phe,ENST00000398886,;TTC29,non_coding_transcript_exon_variant,,ENST00000506019,;TTC29,3_prime_UTR_variant,,ENST00000508306,;							MODERATE	1228/1428	L410F	TTC29_HUMAN			Transcript		benign(0.275)	.	ENSP00000316740		CCDS47141.1			1	
LARP4	0	LGGM	GRCh37	12	50867262	50867262	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	43	4	.	.	ENST00000398473.2:c.1610C>T	p.Ala537Val	p.A537V	ENST00000398473	NM_199188.2	537	gCc/gTc	0	1	1	UPI00002293C3	0	NA	ENST00000398473		ENSG00000161813	24320		47	1.04		HGNC	p.A536V		LARP4		SNV							ENST00000518444	protein_coding	getma.org/?cm=var&var=hg19,12,50867262,C,T&fts=all		hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792		A/V		T	low	1722/6427		getma.org/?cm=msa&ty=f&p=LARP4_HUMAN&rb=381&re=580&var=A537V	tolerated(0.69)	Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN			YES	LARP4,missense_variant,p.Ala537Val,ENST00000398473,NM_199188.2,NM_052879.4;LARP4,missense_variant,p.Ala466Val,ENST00000293618,NM_001170808.1,NM_001170803.1;LARP4,missense_variant,p.Ala543Val,ENST00000429001,;LARP4,missense_variant,p.Ala466Val,ENST00000347328,NM_199190.2;LARP4,missense_variant,p.Ala536Val,ENST00000518444,;LARP4,missense_variant,p.Ala324Val,ENST00000520064,;							MODERATE	1610/2175	A537V	LARP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000381490		CCDS41782.1			1	
FOSL2	0	LGGM	GRCh37	2	28634786	28634786	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	4	4	.	.	ENST00000264716.4:c.463-11T>C		*155*	ENST00000264716	NM_005253.3			0	1	1	UPI000004F8AB	0		ENST00000264716		ENSG00000075426	3798		8			HGNC	p.F143S		FOSL2		SNV							ENST00000379619	protein_coding							C		-/6708				C9JCN8_HUMAN			YES	FOSL2,missense_variant,p.Phe143Ser,ENST00000379619,;FOSL2,intron_variant,,ENST00000264716,NM_005253.3;FOSL2,intron_variant,,ENST00000545753,;FOSL2,intron_variant,,ENST00000436647,;FOSL2,downstream_gene_variant,,ENST00000460736,;							MODIFIER	-/981		FOSL2_HUMAN			Transcript			.	ENSP00000264716		CCDS1766.1			1	
INVS	0	LGGM	GRCh37	9	103062915	103062915	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	6	4	.	.	ENST00000262457.2:c.3157C>T	p.Leu1053=	p.L1053=	ENST00000262457	NM_014425.3	1053	Ctg/Ttg	0	1	1	UPI000013D2BB	0		ENST00000262457		ENSG00000119509	17870		10			HGNC	p.L883L		INVS		SNV			1				ENST00000262456	protein_coding			hmmpanther:PTHR24178		L		T		3342/3709							YES	INVS,synonymous_variant,p.=,ENST00000262457,NM_014425.3;INVS,synonymous_variant,p.=,ENST00000262456,NM_183245.2;INVS,downstream_gene_variant,,ENST00000541287,;TEX10,downstream_gene_variant,,ENST00000374902,NM_017746.3;TEX10,downstream_gene_variant,,ENST00000535814,NM_001161584.1;TEX10,downstream_gene_variant,,ENST00000477648,;							LOW	3157/3198		INVS_HUMAN			Transcript			.	ENSP00000262457		CCDS6746.1			1	
MEIOB	0	LGGM	GRCh37	16	1894915	1894915	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	47	4	.	.	ENST00000412554.2:c.828A>T	p.Glu276Asp	p.E276D	ENST00000412554	NM_001163560.2	276	gaA/gaT	0	1		UPI000059D2EB	0	NA	ENST00000397344		ENSG00000162039	28569		51	1.78		HGNC	p.E276D		MEIOB		SNV							ENST00000397344	protein_coding	getma.org/?cm=var&var=hg19,16,1894915,T,A&fts=all		Gene3D:2.40.50.140,hmmpanther:PTHR21166,hmmpanther:PTHR21166:SF2		E/D		A	low	1023/1792		getma.org/?cm=msa&ty=f&p=CP073_HUMAN&rb=1&re=440&var=E276D	tolerated(0.07)	H3BSU6_HUMAN				MEIOB,missense_variant,p.Glu276Asp,ENST00000412554,NM_001163560.2;MEIOB,missense_variant,p.Glu69Asp,ENST00000470044,;MEIOB,missense_variant,p.Glu276Asp,ENST00000452149,;MEIOB,missense_variant,p.Glu276Asp,ENST00000397344,NM_152764.2;MEIOB,missense_variant,p.Glu276Asp,ENST00000325962,;FAHD1,downstream_gene_variant,,ENST00000382666,NM_001018104.2;FAHD1,downstream_gene_variant,,ENST00000382668,NM_001142398.1;MEIOB,downstream_gene_variant,,ENST00000496541,;LA16c-429E7.1,upstream_gene_variant,,ENST00000570247,;MEIOB,upstream_gene_variant,,ENST00000490154,;							MODERATE	828/1329	E276D	MEIOB_HUMAN			Transcript		benign(0.012)	.	ENSP00000380504		CCDS10449.2			1	
CD46	0	LGGM	GRCh37	1	207930444	207930444	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	79	5	.	.	ENST00000322875.4:c.183T>A	p.Asp61Glu	p.D61E	ENST00000322875	NM_172359.2	61	gaT/gaA	0	1		UPI0000160DF2	0	getma.org/pdb.php?prot=MCP_HUMAN&from=35&to=94&var=D61E	ENST00000358170		ENSG00000117335	6953		84	-1.265		HGNC	p.D61E		CD46		SNV			1				ENST00000441839	protein_coding	getma.org/?cm=var&var=hg19,1,207930444,T,A&fts=all		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		D/E		A	neutral	339/3371		getma.org/?cm=msa&ty=f&p=MCP_HUMAN&rb=35&re=94&var=D61E	tolerated(1)	Q06C42_HUMAN				CD46,missense_variant,p.Asp61Glu,ENST00000358170,NM_002389.4;CD46,missense_variant,p.Asp61Glu,ENST00000367042,NM_172351.2;CD46,missense_variant,p.Asp61Glu,ENST00000367041,NM_172352.2;CD46,missense_variant,p.Asp61Glu,ENST00000322875,NM_172359.2;CD46,missense_variant,p.Asp61Glu,ENST00000361067,;CD46,missense_variant,p.Asp61Glu,ENST00000354848,NM_153826.3;CD46,missense_variant,p.Asp61Glu,ENST00000357714,NM_172353.2;CD46,missense_variant,p.Asp61Glu,ENST00000441839,;CD46,missense_variant,p.Asp61Glu,ENST00000322918,NM_172350.2;CD46,missense_variant,p.Asp61Glu,ENST00000360212,NM_172361.2;CD46,missense_variant,p.Asp61Glu,ENST00000480003,;CD46,intron_variant,,ENST00000367047,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,non_coding_transcript_exon_variant,,ENST00000493796,;CD46,upstream_gene_variant,,ENST00000464082,;							MODERATE	183/1179	D61E	MCP_HUMAN			Transcript		benign(0.002)	.	ENSP00000350893		CCDS1485.1			1	
TRIM65	0	LGGM	GRCh37	17	73888925	73888925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	9	5	.	.	ENST00000269383.3:c.421C>A	p.Leu141Met	p.L141M	ENST00000269383	NM_173547.3	141	Ctg/Atg	0	1	1	UPI000015FC8E	0	NA	ENST00000269383		ENSG00000141569	27316		14	2.945		HGNC	p.L141M		TRIM65		SNV							ENST00000269383	protein_coding	getma.org/?cm=var&var=hg19,17,73888925,G,T&fts=all		hmmpanther:PTHR24103:SF321,hmmpanther:PTHR24103,Superfamily_domains:SSF57845		L/M		T	medium	487/3439		getma.org/?cm=msa&ty=f&p=TRI65_HUMAN&rb=101&re=176&var=L141M	deleterious(0.02)				YES	TRIM65,missense_variant,p.Leu141Met,ENST00000269383,NM_173547.3,NM_001256124.1;TRIM65,missense_variant,p.Leu133Met,ENST00000540128,;TRIM65,missense_variant,p.Leu15Met,ENST00000543309,;TRIM65,upstream_gene_variant,,ENST00000591668,;TRIM65,upstream_gene_variant,,ENST00000592642,;RP11-552F3.10,upstream_gene_variant,,ENST00000587267,;TRIM65,non_coding_transcript_exon_variant,,ENST00000540812,;							MODERATE	421/1554	L141M	TRI65_HUMAN			Transcript		possibly_damaging(0.753)	.	ENSP00000269383		CCDS11732.1			1	
OBSL1	0	LGGM	GRCh37	2	220422992	220422992	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	12	5	.	.	ENST00000404537.1:c.3416C>T	p.Thr1139Ile	p.T1139I	ENST00000404537	NM_015311.2	1139	aCc/aTc	0	1	1	UPI0000E07EA0	0	getma.org/pdb.php?prot=OBSL1_HUMAN&from=1088&to=1161&var=T1139I	ENST00000404537		ENSG00000124006	29092		17	0.22		HGNC	p.T130I		OBSL1		SNV			1				ENST00000265317	protein_coding	getma.org/?cm=var&var=hg19,2,220422992,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/I		A	neutral	3473/5841		getma.org/?cm=msa&ty=f&p=OBSL1_HUMAN&rb=1088&re=1161&var=T1139I	tolerated(0.53)				YES	OBSL1,missense_variant,p.Thr1139Ile,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Thr1139Ile,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Thr1139Ile,ENST00000373876,;OBSL1,missense_variant,p.Thr130Ile,ENST00000265317,;OBSL1,missense_variant,p.Thr133Ile,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,;							MODERATE	3416/5691	T1139I	OBSL1_HUMAN			Transcript		benign(0.013)	.	ENSP00000385636		CCDS46520.1			1	
TRIM65	0	LGGM	GRCh37	17	73888915	73888915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	9	5	.	.	ENST00000269383.3:c.431G>T	p.Ser144Ile	p.S144I	ENST00000269383	NM_173547.3	144	aGc/aTc	0	1	1	UPI000015FC8E	0	NA	ENST00000269383		ENSG00000141569	27316		14	0.805		HGNC	p.S144I		TRIM65		SNV							ENST00000269383	protein_coding	getma.org/?cm=var&var=hg19,17,73888915,C,A&fts=all		hmmpanther:PTHR24103:SF321,hmmpanther:PTHR24103,Superfamily_domains:SSF57845		S/I		A	low	497/3439		getma.org/?cm=msa&ty=f&p=TRI65_HUMAN&rb=101&re=176&var=S144I	tolerated(0.19)				YES	TRIM65,missense_variant,p.Ser144Ile,ENST00000269383,NM_173547.3,NM_001256124.1;TRIM65,missense_variant,p.Ser136Ile,ENST00000540128,;TRIM65,missense_variant,p.Ser18Ile,ENST00000543309,;TRIM65,upstream_gene_variant,,ENST00000591668,;TRIM65,upstream_gene_variant,,ENST00000592642,;RP11-552F3.10,upstream_gene_variant,,ENST00000587267,;TRIM65,non_coding_transcript_exon_variant,,ENST00000540812,;							MODERATE	431/1554	S144I	TRI65_HUMAN			Transcript		benign(0.052)	.	ENSP00000269383		CCDS11732.1			1	
TMEM8C	0	LGGM	GRCh37	9	136379901	136379901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	5	5	.	.	ENST00000339996.3:c.523G>T	p.Asp175Tyr	p.D175Y	ENST00000339996	NM_001080483.2	175	Gac/Tac	0	1	1	UPI00003676C5	0	NA	ENST00000339996		ENSG00000187616	33778		10	1.79		HGNC	p.D175Y		TMEM8C		SNV							ENST00000339996	protein_coding	getma.org/?cm=var&var=hg19,9,136379901,C,A&fts=all		Pfam_domain:PF12036,hmmpanther:PTHR14319:SF5,hmmpanther:PTHR14319		D/Y		A	low	625/818		getma.org/?cm=msa&ty=f&p=TMM8C_HUMAN&rb=1&re=185&var=D175Y	deleterious(0)				YES	TMEM8C,missense_variant,p.Asp175Tyr,ENST00000339996,NM_001080483.2;TMEM8C,downstream_gene_variant,,ENST00000413714,;							MODERATE	523/666	D175Y	TMM8C_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000419712		CCDS35170.1			1	
ZNF613	0	LGGM	GRCh37	19	52439487	52439487	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	32	6	.	.	ENST00000293471.6:c.14A>G	p.Gln5Arg	p.Q5R	ENST00000293471	NM_001031721.3	5	cAg/cGg	0	1	1	UPI0000202AD1	0	NA	ENST00000293471		ENSG00000176024	25827		38	2.005		HGNC	p.Q5R		ZNF613		SNV							ENST00000293471	protein_coding	getma.org/?cm=var&var=hg19,19,52439487,A,G&fts=all		Superfamily_domains:0044637		Q/R		G	medium	693/2710		getma.org/?cm=msa&ty=f&p=ZN613_HUMAN&rb=1&re=37&var=Q5R	deleterious(0.04)	M0R2C1_HUMAN,M0QX19_HUMAN			YES	ZNF613,missense_variant,p.Gln5Arg,ENST00000293471,NM_001031721.3;ZNF613,missense_variant,p.Gln5Arg,ENST00000600853,;ZNF613,intron_variant,,ENST00000391794,NM_024840.3;ZNF613,intron_variant,,ENST00000599683,;ZNF613,intron_variant,,ENST00000593379,;ZNF613,downstream_gene_variant,,ENST00000593395,;							MODERATE	14/1854	Q5R	ZN613_HUMAN			Transcript		benign(0.018)	.	ENSP00000293471		CCDS33089.1			1	
GIT1	0	LGGM	GRCh37	17	27908955	27908955	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	15	6	.	.	ENST00000394869.3:c.613G>A	p.Asp205Asn	p.D205N	ENST00000394869	NM_001085454.1	205	Gac/Aac	0	1		UPI000013C867	0	getma.org/pdb.php?prot=GIT1_HUMAN&from=137&to=229&var=D205N	ENST00000225394		ENSG00000108262	4272		21	1.375		HGNC	p.D205N		GIT1		SNV							ENST00000394869	protein_coding	getma.org/?cm=var&var=hg19,17,27908955,C,T&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF193,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		D/N		T	low	862/3768		getma.org/?cm=msa&ty=f&p=GIT1_HUMAN&rb=137&re=229&var=D205N	deleterious(0.04)	K7EIX6_HUMAN,B4DS81_HUMAN				GIT1,missense_variant,p.Asp205Asn,ENST00000225394,NM_014030.3;GIT1,missense_variant,p.Asp205Asn,ENST00000394869,NM_001085454.1;GIT1,missense_variant,p.Asp205Asn,ENST00000581348,;GIT1,missense_variant,p.Asp205Asn,ENST00000579937,;GIT1,upstream_gene_variant,,ENST00000585148,;GIT1,downstream_gene_variant,,ENST00000335356,;GIT1,downstream_gene_variant,,ENST00000577466,;GIT1,downstream_gene_variant,,ENST00000583413,;RP11-68I3.2,intron_variant,,ENST00000581474,;GIT1,non_coding_transcript_exon_variant,,ENST00000579536,;GIT1,upstream_gene_variant,,ENST00000473217,;GIT1,upstream_gene_variant,,ENST00000491377,;GIT1,upstream_gene_variant,,ENST00000581925,;GIT1,upstream_gene_variant,,ENST00000586574,;							MODERATE	613/2286	D205N	GIT1_HUMAN			Transcript		possibly_damaging(0.6)	.	ENSP00000225394		CCDS11250.1			1	
PAPPA2	0	LGGM	GRCh37	1	176668390	176668390	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	129	7	.	.	ENST00000367662.3:c.2901C>A	p.Thr967=	p.T967=	ENST00000367662	NM_020318.2	967	acC/acA	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		136			HGNC	p.T967T		PAPPA2		SNV							ENST00000367662	protein_coding			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349		T		A		4065/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;							LOW	2901/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
TP53	0	LGGM	GRCh37	17	7577095	7577095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	7	8	.	.	ENST00000269305.4:c.843C>A	p.Asp281Glu	p.D281E	ENST00000269305	NM_001126112.2	281	gaC/gaA	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=D281E	ENST00000269305		ENSG00000141510	11998		15	3.33		HGNC	p.D281E	TP53_g.13823C>A,COSM43906,COSM562342,COSM3378340,COSM1649343	TP53		SNV			1			0,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7577095,G,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		D/E		T	medium	1033/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=D281E	deleterious(0.01)	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			YES	TP53,missense_variant,p.Asp281Glu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Asp281Glu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Asp281Glu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Asp281Glu,ENST00000445888,;TP53,missense_variant,p.Asp281Glu,ENST00000359597,;TP53,missense_variant,p.Asp149Glu,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,;					0,1,1,1,1		MODERATE	843/1182	D281E	P53_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000269305		CCDS11118.1			1	
SRGAP2	0	LGGM	GRCh37	1	206628365	206628365	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	120	8	.	.	ENST00000295713.5:c.2242C>A	p.Ile748=	p.I748=	ENST00000295713		748	atC/atA	0	1	1	UPI000059D0A5	0		ENST00000295713		ENSG00000163486	19751	8.64E-05	128			HGNC	p.I694I	rs538859549	SRGAP2		SNV							ENST00000414007	protein_coding		A:0	hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166		I		A		2242/5967	1.50E-05			Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN	A:0	A:0	YES	SRGAP2,synonymous_variant,p.=,ENST00000295713,;SRGAP2,synonymous_variant,p.=,ENST00000414007,;SRGAP2,synonymous_variant,p.=,ENST00000439126,;SRGAP2,synonymous_variant,p.=,ENST00000419187,;SRGAP2,synonymous_variant,p.=,ENST00000426388,;SRGAP2,non_coding_transcript_exon_variant,,ENST00000471256,;SRGAP2,downstream_gene_variant,,ENST00000488049,;		A:0.0002					LOW	2244/2958				A:0.001	Transcript			.	ENSP00000295713	1.65E-05			A:0	1	
DNAH9	0	LGGM	GRCh37	17	11572876	11572876	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	46	9	.	.	ENST00000262442.4:c.3118A>T	p.Ile1040Phe	p.I1040F	ENST00000262442	NM_001372.3	1040	Att/Ttt	0	1	1	UPI0000141BA2	0	NA	ENST00000262442		ENSG00000007174	2953		55	1.995		HGNC	p.I1040F		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11572876,A,T&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676		I/F		T	medium	3186/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=992&re=1191&var=I1040F		Q92865_HUMAN			YES	DNAH9,missense_variant,p.Ile1040Phe,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Ile1040Phe,ENST00000454412,;							MODERATE	3118/13461	I1040F	DYH9_HUMAN			Transcript		benign(0.017)	.	ENSP00000262442		CCDS11160.1			1	
SIGLEC5	0	LGGM	GRCh37	19	52131262	52131262	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	13	9	.	.	ENST00000429354.3:c.822C>A	p.Asn274Lys	p.N274K	ENST00000429354		274	aaC/aaA	0	1		UPI000011B40C	0	getma.org/pdb.php?prot=SIGL5_HUMAN&from=249&to=331&var=N274K	ENST00000534261		ENSG00000105501	10874		22	3.215		HGNC	p.N274K		SIGLEC5		SNV							ENST00000570106	protein_coding	getma.org/?cm=var&var=hg19,19,52131262,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		N/K		T	medium	1222/2356		getma.org/?cm=msa&ty=f&p=SIGL5_HUMAN&rb=249&re=331&var=N274K	deleterious(0.01)					SIGLEC5,missense_variant,p.Asn274Lys,ENST00000222107,;SIGLEC5,missense_variant,p.Asn274Lys,ENST00000570106,NM_003830.3;SIGLEC5,missense_variant,p.Asn274Lys,ENST00000534261,;SIGLEC5,missense_variant,p.Asn274Lys,ENST00000429354,;SIGLEC5,missense_variant,p.Asn274Lys,ENST00000599649,;							MODERATE	822/1656	N274K	SIGL5_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000473238		CCDS33088.1			1	
EML2	0	LGGM	GRCh37	19	46119728	46119728	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	12	10	.	.	ENST00000587152.1:c.2103C>T	p.Gly701=	p.G701=	ENST00000587152	NM_001193268.1	701	ggC/ggT	0	1		UPI0000129EA3	0		ENST00000245925		ENSG00000125746	18035		22			HGNC	p.G500G		EML2		SNV							ENST00000245925	protein_coding			PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998		G		A		1551/2264				K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN				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,intron_variant,,ENST00000587484,;EML2,downstream_gene_variant,,ENST00000588496,;EML2,downstream_gene_variant,,ENST00000590575,;EML2,downstream_gene_variant,,ENST00000588272,;EML2,synonymous_variant,p.=,ENST00000586405,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,intron_variant,,ENST00000588308,;EML2,downstream_gene_variant,,ENST00000399594,;EML2,downstream_gene_variant,,ENST00000588000,;EML2,downstream_gene_variant,,ENST00000588610,;EML2,upstream_gene_variant,,ENST00000592433,;EML2,downstream_gene_variant,,ENST00000592482,;EML2,downstream_gene_variant,,ENST00000590819,;							LOW	1500/1950		EMAL2_HUMAN			Transcript			.	ENSP00000245925		CCDS12670.1			1	
PAPPA2	0	LGGM	GRCh37	1	176668397	176668397	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	138	10	.	.	ENST00000367662.3:c.2908G>A	p.Val970Ile	p.V970I	ENST00000367662	NM_020318.2	970	Gtc/Atc	0	1	1	UPI000004A835	0	NA	ENST00000367662		ENSG00000116183	14615		148	0.46		HGNC	p.V970I	rs757371595	PAPPA2		SNV							ENST00000367662	protein_coding	getma.org/?cm=var&var=hg19,1,176668397,G,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349		V/I		A	neutral	4072/9685	1.50E-05	getma.org/?cm=msa&ty=f&p=PAPP2_HUMAN&rb=832&re=1031&var=V970I	tolerated(0.19)				YES	PAPPA2,missense_variant,p.Val970Ile,ENST00000367662,NM_020318.2;							MODERATE	2908/5376	V970I	PAPP2_HUMAN			Transcript		benign(0.008)	.	ENSP00000356634	8.27E-06	CCDS41438.1			1	
SCNN1B	0	LGGM	GRCh37	16	23382620	23382620	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	2	10	.	.	ENST00000343070.2:c.881G>A	p.Gly294Asp	p.G294D	ENST00000343070	NM_000336.2	294	gGc/gAc	0	1	1	UPI0000135616	0	getma.org/pdb.php?prot=SCNNB_HUMAN&from=29&to=544&var=G294D	ENST00000343070		ENSG00000168447	10600		12	3.2		HGNC	p.G294D		SCNN1B		SNV			1				ENST00000343070	protein_coding	getma.org/?cm=var&var=hg19,16,23382620,G,A&fts=all		Gene3D:2qtsA02,Pfam_domain:PF00858,Prints_domain:PR01078,hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF18,TIGRFAM_domain:TIGR00859		G/D		A	medium	1057/2597		getma.org/?cm=msa&ty=f&p=SCNNB_HUMAN&rb=29&re=544&var=G294D	deleterious(0)	B2R812_HUMAN			YES	SCNN1B,missense_variant,p.Gly294Asp,ENST00000343070,NM_000336.2;SCNN1B,missense_variant,p.Gly339Asp,ENST00000307331,;SCNN1B,missense_variant,p.Gly267Asp,ENST00000568923,;SCNN1B,missense_variant,p.Gly294Asp,ENST00000568085,;SCNN1B,splice_region_variant,p.=,ENST00000564275,;SCNN1B,splice_region_variant,,ENST00000566441,;							MODERATE	881/1923	G294D	SCNNB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345751		CCDS10609.1			1	
SEC31A	0	LGGM	GRCh37	4	83785726	83785726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	2	10	.	.	ENST00000395310.2:c.1223A>G	p.Glu408Gly	p.E408G	ENST00000395310	NM_001077207.2	408	gAg/gGg	0	1		UPI000003E7E1	0	NA	ENST00000355196		ENSG00000138674	17052		12	0.405		HGNC	p.E408G		SEC31A		SNV							ENST00000508502	protein_coding	getma.org/?cm=var&var=hg19,4,83785726,T,C&fts=all		hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923		E/G		C	neutral	1601/4104		getma.org/?cm=msa&ty=f&p=SC31A_HUMAN&rb=335&re=534&var=E408G	tolerated(0.31)	U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN				SEC31A,missense_variant,p.Glu408Gly,ENST00000432794,;SEC31A,missense_variant,p.Glu408Gly,ENST00000395310,NM_001077207.2,NM_014933.3,NM_001077208.2;SEC31A,missense_variant,p.Glu408Gly,ENST00000448323,;SEC31A,missense_variant,p.Glu408Gly,ENST00000505472,;SEC31A,missense_variant,p.Glu408Gly,ENST00000326950,NM_016211.3;SEC31A,missense_variant,p.Glu408Gly,ENST00000355196,;SEC31A,missense_variant,p.Glu403Gly,ENST00000443462,NM_001191049.1;SEC31A,missense_variant,p.Glu408Gly,ENST00000348405,;SEC31A,missense_variant,p.Glu408Gly,ENST00000311785,NM_001077206.2;SEC31A,missense_variant,p.Glu408Gly,ENST00000509142,;SEC31A,missense_variant,p.Glu408Gly,ENST00000508502,;SEC31A,missense_variant,p.Glu408Gly,ENST00000513858,;SEC31A,missense_variant,p.Glu408Gly,ENST00000500777,;SEC31A,missense_variant,p.Glu408Gly,ENST00000505984,;SEC31A,missense_variant,p.Glu180Gly,ENST00000264405,;SEC31A,missense_variant,p.Glu408Gly,ENST00000508479,;SEC31A,missense_variant,p.Glu51Gly,ENST00000507828,;SEC31A,missense_variant,p.Glu9Gly,ENST00000510167,;SEC31A,upstream_gene_variant,,ENST00000512664,;SEC31A,non_coding_transcript_exon_variant,,ENST00000436790,;SEC31A,upstream_gene_variant,,ENST00000512732,;							MODERATE	1223/3663	E408G	SC31A_HUMAN			Transcript		benign(0)	.	ENSP00000347329		CCDS3596.1			1	
ESRP1	0	LGGM	GRCh37	8	95653666	95653666	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	84	10	.	.	ENST00000433389.2:c.120G>C	p.Leu40=	p.L40=	ENST00000433389	NM_001034915.2	40	ctG/ctC	0	1	1	UPI0000210327	0		ENST00000433389		ENSG00000104413	25966		94			HGNC	p.L40L		ESRP1		SNV							ENST00000454170	protein_coding			Gene3D:3.30.420.10,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Superfamily_domains:SSF53098		L		C		310/3770				E5RI26_HUMAN,E5RGE9_HUMAN			YES	ESRP1,synonymous_variant,p.=,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,synonymous_variant,p.=,ENST00000358397,;ESRP1,synonymous_variant,p.=,ENST00000423620,NM_001122826.1;ESRP1,synonymous_variant,p.=,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,upstream_gene_variant,,ENST00000519505,;ESRP1,upstream_gene_variant,,ENST00000517610,;ESRP1,upstream_gene_variant,,ENST00000520385,;ESRP1,upstream_gene_variant,,ENST00000522756,;RP11-22C11.2,upstream_gene_variant,,ENST00000562760,;ESRP1,upstream_gene_variant,,ENST00000522920,;							LOW	120/2046		ESRP1_HUMAN			Transcript			.	ENSP00000405738		CCDS47897.1			1	
STXBP5L	0	LGGM	GRCh37	3	120871358	120871358	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	31	11	.	.	ENST00000273666.6:c.704T>C	p.Phe235Ser	p.F235S	ENST00000273666	NM_014980.2	235	tTc/tCc	0	1	1	UPI00001C1DEA	0	NA	ENST00000273666		ENSG00000145087	30757		42	0.345		HGNC	p.F235S		STXBP5L		SNV							ENST00000273666	protein_coding	getma.org/?cm=var&var=hg19,3,120871358,T,C&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		F/S		C	neutral	975/9496		getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=201&re=249&var=F235S	deleterious(0)	C9JUZ7_HUMAN			YES	STXBP5L,missense_variant,p.Phe235Ser,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Phe235Ser,ENST00000471454,;STXBP5L,missense_variant,p.Phe235Ser,ENST00000471262,;STXBP5L,missense_variant,p.Phe235Ser,ENST00000492541,;STXBP5L,missense_variant,p.Phe235Ser,ENST00000472879,;STXBP5L,missense_variant,p.Phe235Ser,ENST00000497029,;STXBP5L,3_prime_UTR_variant,,ENST00000461772,;							MODERATE	704/3561	F235S	STB5L_HUMAN			Transcript		benign(0.028)	.	ENSP00000273666		CCDS43137.1			1	
PHC3	0	LGGM	GRCh37	3	169890383	169890383	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	104	11	.	.	ENST00000495893.2:c.298T>G	p.Leu100Val	p.L100V	ENST00000495893	NM_024947.3	100	Tta/Gta	0	1		UPI000006D99D	0	NA	ENST00000494943		ENSG00000173889	15682		115	2.24		HGNC	p.L100V		PHC3		SNV							ENST00000465896	protein_coding	getma.org/?cm=var&var=hg19,3,169890383,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12247:SF20,hmmpanther:PTHR12247		L/V		C	medium	331/5030		getma.org/?cm=msa&ty=f&p=PHC3_HUMAN&rb=1&re=701&var=L88V	deleterious(0.02)					PHC3,missense_variant,p.Leu100Val,ENST00000495893,NM_024947.3;PHC3,missense_variant,p.Leu88Val,ENST00000494943,;PHC3,missense_variant,p.Leu100Val,ENST00000467570,;PHC3,missense_variant,p.Leu84Val,ENST00000474275,;PHC3,missense_variant,p.Leu100Val,ENST00000497658,;PHC3,missense_variant,p.Leu96Val,ENST00000481639,;PHC3,missense_variant,p.Leu100Val,ENST00000475729,;PHC3,missense_variant,p.Leu100Val,ENST00000484931,;PHC3,missense_variant,p.Leu100Val,ENST00000466189,;PHC3,missense_variant,p.Leu100Val,ENST00000465896,;PHC3,missense_variant,p.Leu100Val,ENST00000479467,;PHC3,3_prime_UTR_variant,,ENST00000472330,;PHC3,non_coding_transcript_exon_variant,,ENST00000491258,;PHC3,non_coding_transcript_exon_variant,,ENST00000490723,;							MODERATE	262/2952	L88V	PHC3_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000420271					1	
OR10G2	0	LGGM	GRCh37	14	22102961	22102961	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	17	12	.	.	ENST00000542433.1:c.38T>G	p.Val13Gly	p.V13G	ENST00000542433	NM_001005466.1	13	gTg/gGg	0	1	1	UPI0000041E5C	0	NA	ENST00000542433		ENSG00000255582	8170		29	2.12		HGNC	p.V13G		OR10G2		SNV							ENST00000542433	protein_coding	getma.org/?cm=var&var=hg19,14,22102961,A,C&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453		V/G		C	medium	136/1105		getma.org/?cm=msa&ty=f&p=O10G2_HUMAN&rb=1&re=143&var=V13G	deleterious(0)				YES	OR10G2,missense_variant,p.Val13Gly,ENST00000542433,NM_001005466.1;							MODERATE	38/933	V13G	O10G2_HUMAN			Transcript		possibly_damaging(0.635)	.	ENSP00000445383		CCDS32047.1			1	
APOB	0	LGGM	GRCh37	2	21236271	21236271	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	32	12	.	.	ENST00000233242.1:c.3977T>G	p.Val1326Gly	p.V1326G	ENST00000233242	NM_000384.2	1326	gTg/gGg	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		44	0.55		HGNC	p.V1326G		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21236271,A,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		V/G		C	neutral	4105/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=1273&re=1472&var=V1326G		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Val1326Gly,ENST00000233242,NM_000384.2;							MODERATE	3977/13692	V1326G	APOB_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000233242		CCDS1703.1			1	
SCN7A	0	LGGM	GRCh37	2	167266330	167266330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	39	12	.	.	ENST00000409855.1:c.3827G>T	p.Ser1276Ile	p.S1276I	ENST00000409855	NM_002976.3	1276	aGt/aTt	0	1	1	UPI0000209019	0	NA	ENST00000409855		ENSG00000136546	10594		51	3.2		HGNC	p.S1276I		SCN7A		SNV							ENST00000409855	protein_coding	getma.org/?cm=var&var=hg19,2,167266330,C,A&fts=all		Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324		S/I		A	medium	3954/7183		getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1193&re=1284&var=S1276I	deleterious(0)	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN			YES	SCN7A,missense_variant,p.Ser1276Ile,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;							MODERATE	3827/5049	S1276I	SCN7A_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000386796		CCDS46442.1			1	
ANKS3	0	LGGM	GRCh37	16	4777139	4777139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	15	12	.	.	ENST00000304283.4:c.210G>T	p.Trp70Cys	p.W70C	ENST00000304283	NM_133450.3	70	tgG/tgT	0	1	1	UPI00001C08FE	0	getma.org/pdb.php?prot=ANKS3_HUMAN&from=22&to=99&var=W70C	ENST00000304283		ENSG00000168096	29422		27	2.35		HGNC	p.W70C		ANKS3		SNV							ENST00000592190	protein_coding	getma.org/?cm=var&var=hg19,16,4777139,C,A&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24184:SF6,hmmpanther:PTHR24184,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		W/C		A	medium	505/2662		getma.org/?cm=msa&ty=f&p=ANKS3_HUMAN&rb=22&re=99&var=W70C	deleterious(0)	K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN			YES	ANKS3,missense_variant,p.Trp70Cys,ENST00000304283,NM_133450.3;ANKS3,missense_variant,p.Trp70Cys,ENST00000590147,;ANKS3,missense_variant,p.Trp70Cys,ENST00000592190,;ANKS3,5_prime_UTR_variant,,ENST00000585773,;ANKS3,5_prime_UTR_variant,,ENST00000592698,;ANKS3,intron_variant,,ENST00000446014,NM_001242929.1;ANKS3,intron_variant,,ENST00000450067,;ANKS3,intron_variant,,ENST00000592421,;ANKS3,intron_variant,,ENST00000586605,;ANKS3,intron_variant,,ENST00000586166,;ANKS3,intron_variant,,ENST00000592711,;ANKS3,intron_variant,,ENST00000589065,;RP11-127I20.7,downstream_gene_variant,,ENST00000588099,;ANKS3,missense_variant,p.Trp70Cys,ENST00000590193,;ANKS3,missense_variant,p.Trp70Cys,ENST00000587005,;ANKS3,non_coding_transcript_exon_variant,,ENST00000591653,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590803,;ANKS3,intron_variant,,ENST00000592077,;ANKS3,intron_variant,,ENST00000590730,;ANKS3,intron_variant,,ENST00000592068,;ANKS3,intron_variant,,ENST00000586159,;ANKS3,intron_variant,,ENST00000593120,;ANKS3,intron_variant,,ENST00000591281,;ANKS3,downstream_gene_variant,,ENST00000590689,;ANKS3,upstream_gene_variant,,ENST00000586632,;							MODERATE	210/1971	W70C	ANKS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304586		CCDS10520.1			1	
C2orf44	0	LGGM	GRCh37	2	24260927	24260927	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	26	12	.	.	ENST00000295148.4:c.1438C>T	p.Leu480=	p.L480=	ENST00000295148	NM_025203.2	480	Ctg/Ttg	0	1	1	UPI0000070788	0		ENST00000295148		ENSG00000163026	26157		38			HGNC	p.L480L		C2orf44		SNV							ENST00000406895	protein_coding			hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF2,Pfam_domain:PF15390		L		A		1496/3817				C9JYC1_HUMAN			YES	C2orf44,synonymous_variant,p.=,ENST00000295148,NM_025203.2;C2orf44,synonymous_variant,p.=,ENST00000406895,NM_001142319.1;C2orf44,downstream_gene_variant,,ENST00000443232,;MFSD2B,intron_variant,,ENST00000453731,;							LOW	1438/2166		CB044_HUMAN			Transcript			.	ENSP00000295148		CCDS1705.1			1	
TTN	0	LGGM	GRCh37	2	179654722	179654722	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	27	13	.	.	ENST00000589042.1:c.1921C>T	p.Gln641Ter	p.Q641*	ENST00000589042	NM_001267550.1	641	Caa/Taa	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		40	0		HGNC	p.Q595X		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179654722,G,A&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		Q/*		A	NA	2146/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Gln641Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Gln641Ter,ENST00000591111,;TTN,stop_gained,p.Gln641Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Gln595Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Gln595Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Gln595Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Gln641Ter,ENST00000360870,NM_133379.4;TTN,intron_variant,,ENST00000436599,;							HIGH	1921/103053	Q641*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
AHRR	0	LGGM	GRCh37	5	354012	354012	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	17	13	.	.	ENST00000316418.5:c.242A>G	p.Lys81Arg	p.K81R	ENST00000316418	NM_020731.4	81	aAg/aGg	0	1		UPI0001D3B0D7	0	NA	ENST00000505113		ENSG00000063438	346		30	1.345		HGNC	p.K77R		AHRR		SNV							ENST00000504625	protein_coding	getma.org/?cm=var&var=hg19,5,354012,A,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50888,hmmpanther:PTHR10649,hmmpanther:PTHR10649:SF3,SMART_domains:SM00353		K/R		G	low	286/2173		getma.org/?cm=msa&ty=f&p=AHRR_HUMAN&rb=17&re=82&var=K81R	deleterious(0.03)	E5RGQ2_HUMAN,E5RFG4_HUMAN,D6RF73_HUMAN				AHRR,missense_variant,p.Lys81Arg,ENST00000316418,NM_020731.4;AHRR,missense_variant,p.Lys81Arg,ENST00000505113,NM_001242412.1;AHRR,missense_variant,p.Lys77Arg,ENST00000510400,;AHRR,missense_variant,p.Lys77Arg,ENST00000515206,;AHRR,missense_variant,p.Lys77Arg,ENST00000504625,;AHRR,5_prime_UTR_variant,,ENST00000514523,;AHRR,intron_variant,,ENST00000512529,;PDCD6,downstream_gene_variant,,ENST00000506909,;							MODERATE	242/2106	K81R	AHRR_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000424601		CCDS56355.1			1	
TAS1R2	0	LGGM	GRCh37	1	19166911	19166911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	13	13	.	.	ENST00000375371.3:c.1702G>T	p.Ala568Ser	p.A568S	ENST00000375371	NM_152232.2	568	Gct/Tct	0	1	1	UPI0000456168	0	NA	ENST00000375371		ENSG00000179002	14905		26	0		HGNC	p.A568S		TAS1R2		SNV							ENST00000375371	protein_coding	getma.org/?cm=var&var=hg19,1,19166911,C,A&fts=all		PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Transmembrane_helices:TMhelix		A/S		A	neutral	1724/2542		getma.org/?cm=msa&ty=f&p=TS1R2_HUMAN&rb=545&re=574&var=A568S	deleterious(0.05)				YES	TAS1R2,missense_variant,p.Ala568Ser,ENST00000375371,NM_152232.2;							MODERATE	1702/2520	A568S	TS1R2_HUMAN			Transcript		benign(0.058)	.	ENSP00000364520		CCDS187.1			1	
XIRP2	0	LGGM	GRCh37	2	168099646	168099646	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	19	13	.	.	ENST00000409195.1:c.1744G>A	p.Glu582Lys	p.E582K	ENST00000409195	NM_152381.5	582	Gag/Aag	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		32	2.125		HGNC	p.E360K		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168099646,G,A&fts=all		Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		E/K		A	medium	1833/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=377&re=432&var=E407K		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Glu582Lys,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Glu582Lys,ENST00000295237,;XIRP2,missense_variant,p.Glu360Lys,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;							MODERATE	1744/10650	E407K				Transcript		probably_damaging(0.999)	.	ENSP00000386840		CCDS42769.1			1	
COL5A3	0	LGGM	GRCh37	19	10114763	10114763	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	4	13	.	.	ENST00000264828.3:c.653A>T	p.Glu218Val	p.E218V	ENST00000264828	NM_015719.3	218	gAg/gTg	0	1	1	UPI00002032A3	0	NA	ENST00000264828		ENSG00000080573	14864		17	1.75		HGNC	p.E218V		COL5A3		SNV							ENST00000264828	protein_coding	getma.org/?cm=var&var=hg19,19,10114763,T,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400,Superfamily_domains:SSF49899		E/V		A	low	739/6174		getma.org/?cm=msa&ty=f&p=CO5A3_HUMAN&rb=201&re=369&var=E218V					YES	COL5A3,missense_variant,p.Glu218Val,ENST00000264828,NM_015719.3;							MODERATE	653/5238	E218V	CO5A3_HUMAN			Transcript		unknown(0)	.	ENSP00000264828		CCDS12222.1			1	
SLC5A9	0	LGGM	GRCh37	1	48705100	48705100	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	25	14	.	.	ENST00000236495.5:c.1643C>T	p.Ala548Val	p.A548V	ENST00000236495	NM_001135181.1	548	gCa/gTa	0	1		UPI0000418E63	0	NA	ENST00000438567		ENSG00000117834	22146		39	2.08		HGNC	p.A523V		SLC5A9		SNV							ENST00000438567	protein_coding	getma.org/?cm=var&var=hg19,1,48705100,C,T&fts=all		hmmpanther:PTHR11819:SF96,hmmpanther:PTHR11819		A/V		T	medium	1620/3195		getma.org/?cm=msa&ty=f&p=SC5A9_HUMAN&rb=497&re=681&var=A523V	tolerated(0.07)					SLC5A9,missense_variant,p.Ala548Val,ENST00000236495,NM_001135181.1;SLC5A9,missense_variant,p.Ala523Val,ENST00000438567,NM_001011547.2;SLC5A9,missense_variant,p.Ala544Val,ENST00000533824,;SLC5A9,downstream_gene_variant,,ENST00000420136,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000525901,;SLC5A9,upstream_gene_variant,,ENST00000471020,;SLC5A9,missense_variant,p.Ala15Val,ENST00000532322,;SLC5A9,3_prime_UTR_variant,,ENST00000425816,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;SLC5A9,downstream_gene_variant,,ENST00000441260,;							MODERATE	1568/2046	A523V	SC5A9_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000401730		CCDS30709.2			1	
TAF7L	0	LGGM	GRCh37	X	100548032	100548032	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	66	14	.	.	ENST00000372907.3:c.2T>C	p.Met1?	p.M1?	ENST00000372907	NM_024885.3	1	aTg/aCg	0	1	1	UPI0000212176	0	NA	ENST00000372907		ENSG00000102387	11548		80	0		HGNC	p.M1T		TAF7L		SNV							ENST00000372907	protein_coding	getma.org/?cm=var&var=hg19,X,100548032,A,G&fts=all		hmmpanther:PTHR12228,hmmpanther:PTHR12228:SF1		M/T		G	NA	14/2341		http://getma.org/?cm=msa&ty=f&p=TAF7L_HUMAN&rb=1&re=97&var=M1T	deleterious(0)				YES	TAF7L,start_lost,p.Met1?,ENST00000372907,NM_024885.3;TAF7L,5_prime_UTR_variant,,ENST00000372905,;TAF7L,upstream_gene_variant,,ENST00000356784,NM_001168474.1;Y_RNA,upstream_gene_variant,,ENST00000410271,;							HIGH	2/1389	M1T	TAF7L_HUMAN			Transcript		benign(0.343)	.	ENSP00000361998		CCDS35347.1			1	
SPATA18	0	LGGM	GRCh37	4	52938137	52938137	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	31	14	.	.	ENST00000295213.4:c.573G>A	p.Arg191=	p.R191=	ENST00000295213	NM_145263.2	191	agG/agA	0	1	1	UPI000006FB0D	0		ENST00000295213		ENSG00000163071	29579		45			HGNC	p.R191R	rs774002045	SPATA18	6.07E-05	SNV							ENST00000505320	protein_coding			hmmpanther:PTHR21771,hmmpanther:PTHR21771:SF0		R		A		947/4396							YES	SPATA18,synonymous_variant,p.=,ENST00000295213,NM_145263.2;SPATA18,synonymous_variant,p.=,ENST00000419395,;SPATA18,non_coding_transcript_exon_variant,,ENST00000506829,;SPATA18,intron_variant,,ENST00000514670,;SPATA18,synonymous_variant,p.=,ENST00000505320,;SPATA18,3_prime_UTR_variant,,ENST00000505038,;SPATA18,3_prime_UTR_variant,,ENST00000508915,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;							LOW	573/1617		MIEAP_HUMAN			Transcript			.	ENSP00000295213	8.24E-06	CCDS3489.1			1	
DPP6	0	LGGM	GRCh37	7	154379696	154379696	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	61	14	.	.	ENST00000377770.3:c.628-49835T>C		*210*	ENST00000377770				0	1	1	UPI00001AE746	0		ENST00000377770		ENSG00000130226	3010		75			HGNC	p.S322P		DPP6		SNV			1				ENST00000406326	protein_coding							C		-/3710				Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,missense_variant,p.Ser322Pro,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,intron_variant,,ENST00000332007,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000427557,;DPP6,downstream_gene_variant,,ENST00000496611,;							MODIFIER	-/2598		DPP6_HUMAN			Transcript			.	ENSP00000367001					1	
CD1A	0	LGGM	GRCh37	1	158225870	158225870	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	50	15	.	.	ENST00000289429.5:c.402T>C	p.Ala134=	p.A134=	ENST00000289429	NM_001763.2	134	gcT/gcC	0	1	1	UPI0000161A54	0		ENST00000289429		ENSG00000158477	1634		65			HGNC	p.A134A		CD1A		SNV							ENST00000289429	protein_coding			Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,Superfamily_domains:SSF54452		A		C		935/2096							YES	CD1A,synonymous_variant,p.=,ENST00000289429,NM_001763.2;							LOW	402/984		CD1A_HUMAN			Transcript			.	ENSP00000289429		CCDS1174.1			1	
CELA2B	0	LGGM	GRCh37	1	15813886	15813886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	31	15	.	.	ENST00000375910.3:c.746C>A	p.Pro249His	p.P249H	ENST00000375910	NM_015849.2	249	cCc/cAc	0	1	1	UPI00000724AA	0	getma.org/pdb.php?prot=CEL2B_HUMAN&from=29&to=262&var=P249H	ENST00000375910		ENSG00000215704	29995		46	3.83		HGNC	p.P249H		CELA2B		SNV							ENST00000375910	protein_coding	getma.org/?cm=var&var=hg19,1,15813886,C,A&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494		P/H		A	high	771/923		getma.org/?cm=msa&ty=f&p=CEL2B_HUMAN&rb=29&re=262&var=P249H	deleterious(0)				YES	CELA2B,missense_variant,p.Pro249His,ENST00000375910,NM_015849.2;CASP9,downstream_gene_variant,,ENST00000546424,NM_001229.4;CASP9,downstream_gene_variant,,ENST00000333868,;CASP9,downstream_gene_variant,,ENST00000348549,NM_001278054.1;CELA2B,non_coding_transcript_exon_variant,,ENST00000488764,;CELA2B,downstream_gene_variant,,ENST00000494280,;CASP9,downstream_gene_variant,,ENST00000400777,;							MODERATE	746/810	P249H	CEL2B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000365075		CCDS30605.1			1	
MPEG1	0	LGGM	GRCh37	11	58978404	58978404	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	49	15	.	.	ENST00000361050.3:c.1935C>A	p.Ile645=	p.I645=	ENST00000361050	NM_001039396.1	645	atC/atA	0	1	1	UPI0000049D9F	0		ENST00000361050		ENSG00000197629	29619		64			HGNC	p.I645I		MPEG1		SNV							ENST00000361050	protein_coding			hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3		I		T		2021/4442							YES	MPEG1,synonymous_variant,p.=,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;							LOW	1935/2151		MPEG1_HUMAN			Transcript			.	ENSP00000354335		CCDS41650.1			1	
SPTA1	0	LGGM	GRCh37	1	158582650	158582650	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	32	15	.	.	ENST00000368147.4:c.7091T>G	p.Leu2364Arg	p.L2364R	ENST00000368147	NM_003126.2	2364	cTg/cGg	0	1	1	UPI0000458906	0	getma.org/pdb.php?prot=SPTA1_HUMAN&from=2350&to=2418&var=L2364R	ENST00000368147		ENSG00000163554	11272		47	1.725		HGNC	p.L2364R		SPTA1		SNV			1				ENST00000368148	protein_coding	getma.org/?cm=var&var=hg19,1,158582650,A,C&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF08726,PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,Superfamily_domains:SSF47473		L/R		C	low	7272/7999		getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=2350&re=2418&var=L2364R	deleterious(0)	O60686_HUMAN			YES	SPTA1,missense_variant,p.Leu2364Arg,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000485680,;SPTA1,non_coding_transcript_exon_variant,,ENST00000481212,;SPTA1,non_coding_transcript_exon_variant,,ENST00000498708,;SPTA1,downstream_gene_variant,,ENST00000492934,;							MODERATE	7091/7260	L2364R	SPTA1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000357129		CCDS41423.1			1	
RBMS1	0	LGGM	GRCh37	2	161141351	161141351	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	20	16	.	.	ENST00000348849.3:c.835A>G	p.Thr279Ala	p.T279A	ENST00000348849	NM_002897.4	279	Aca/Gca	0	1	1	UPI00000713D4	0	NA	ENST00000348849		ENSG00000153250	9907		36	0.975		HGNC	p.T279A		RBMS1		SNV							ENST00000348849	protein_coding	getma.org/?cm=var&var=hg19,2,161141351,T,C&fts=all		hmmpanther:PTHR24011:SF211,hmmpanther:PTHR24011		T/A		C	low	1266/4273		getma.org/?cm=msa&ty=f&p=RBMS1_HUMAN&rb=210&re=406&var=T279A	tolerated(0.75)	Q9UEK5_HUMAN,E7EPF2_HUMAN			YES	RBMS1,missense_variant,p.Thr279Ala,ENST00000348849,NM_002897.4,NM_016836.3;RBMS1,missense_variant,p.Thr243Ala,ENST00000409972,;RBMS1,missense_variant,p.Thr276Ala,ENST00000392753,;RBMS1,missense_variant,p.Thr243Ala,ENST00000409075,;RBMS1,missense_variant,p.Thr243Ala,ENST00000409289,;RBMS1,non_coding_transcript_exon_variant,,ENST00000474820,;RBMS1,non_coding_transcript_exon_variant,,ENST00000490637,;RBMS1,non_coding_transcript_exon_variant,,ENST00000491781,;RBMS1,upstream_gene_variant,,ENST00000477965,;							MODERATE	835/1221	T279A	RBMS1_HUMAN			Transcript		benign(0)	.	ENSP00000294904		CCDS2213.1			1	
OR2L13	0	LGGM	GRCh37	1	248263372	248263372	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	51	16	.	.	ENST00000366478.2:c.695G>C	p.Gly232Ala	p.G232A	ENST00000366478	NM_175911.2	232	gGg/gCg	0	1		UPI0000043517	0	NA	ENST00000358120		ENSG00000196071	19578		67	2.485		HGNC	p.G232A		OR2L13		SNV							ENST00000358120	protein_coding	getma.org/?cm=var&var=hg19,1,248263372,G,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF102,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		G/A		C	medium	840/1692		getma.org/?cm=msa&ty=f&p=OR2LD_HUMAN&rb=138&re=282&var=G232A	tolerated(0.28)					OR2L13,missense_variant,p.Gly232Ala,ENST00000366478,NM_175911.2;OR2L13,missense_variant,p.Gly232Ala,ENST00000358120,;							MODERATE	695/939	G232A	OR2LD_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000350836		CCDS1637.1			1	
PCDHB1	0	LGGM	GRCh37	5	140432341	140432341	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	39	16	.	.	ENST00000306549.3:c.1286C>G	p.Pro429Arg	p.P429R	ENST00000306549	NM_013340.2	429	cCa/cGa	0	1	1	UPI000013EB56	0	NA	ENST00000306549		ENSG00000171815	8680		55	0.29		HGNC	p.P429R		PCDHB1		SNV							ENST00000306549	protein_coding	getma.org/?cm=var&var=hg19,5,140432341,C,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/R		G	neutral	1363/2534		getma.org/?cm=msa&ty=f&p=PCDB1_HUMAN&rb=353&re=443&var=P429R	deleterious(0)				YES	PCDHB1,missense_variant,p.Pro429Arg,ENST00000306549,NM_013340.2;							MODERATE	1286/2457	P429R	PCDB1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000307234		CCDS4243.1			1	
FFAR2	0	LGGM	GRCh37	19	35941417	35941417	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	15	19	.	.	ENST00000599180.2:c.801T>C	p.Ser267=	p.S267=	ENST00000599180		267	agT/agC	0	1		UPI0000050459	0		ENST00000246549		ENSG00000126262	4501		34			HGNC	p.S267S		FFAR2		SNV							ENST00000246549	protein_coding			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		S		C		801/2051				C6KYL4_HUMAN				FFAR2,synonymous_variant,p.=,ENST00000599180,;FFAR2,synonymous_variant,p.=,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;							LOW	801/993		FFAR2_HUMAN			Transcript			.	ENSP00000246549		CCDS12461.1			1	
TBC1D8	0	LGGM	GRCh37	2	101655076	101655076	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	48	21	.	.	ENST00000376840.4:c.1077G>A	p.Pro359=	p.P359=	ENST00000376840		359	ccG/ccA	0	1	1	UPI00015ADD19	0		ENST00000376840		ENSG00000204634	17791	8.64E-05	69			HGNC	p.P359P	rs372394865,COSM1398428,COSM1398427	TBC1D8		SNV	T:0					0,1,1	ENST00000376840	protein_coding			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218		P	T:0.0001	T		1077/3627	1.50E-05						YES	TBC1D8,synonymous_variant,p.=,ENST00000409318,NM_001102426.1;TBC1D8,synonymous_variant,p.=,ENST00000376840,;					0,1,1		LOW	1077/3423		TBCD8_HUMAN			Transcript			.	ENSP00000366036	1.65E-05	CCDS46375.1			1	
WDFY4	0	LGGM	GRCh37	10	50019593	50019593	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	23	21	.	.	ENST00000325239.5:c.5054A>G	p.Lys1685Arg	p.K1685R	ENST00000325239	NM_020945.1	1685	aAg/aGg	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		44	2.125		HGNC	p.K1685R		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,50019593,A,G&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		K/R		G	medium	5081/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=1601&re=1800&var=K1685R	tolerated(0.34)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Lys1685Arg,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Lys232Arg,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;							MODERATE	5054/9555	K1685R	WDFY4_HUMAN			Transcript		benign(0.033)	.	ENSP00000320563		CCDS44385.1			1	
GTF2F2	0	LGGM	GRCh37	13	45827100	45827100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	9	22	.	.	ENST00000340473.6:c.481T>C	p.Tyr161His	p.Y161H	ENST00000340473	NM_004128.2	161	Tac/Cac	0	1	1	UPI0000000C36	0	NA	ENST00000340473		ENSG00000188342	4653		31	0.445		HGNC	p.Y161H		GTF2F2		SNV							ENST00000340473	protein_coding	getma.org/?cm=var&var=hg19,13,45827100,T,C&fts=all		hmmpanther:PTHR10445,hmmpanther:PTHR10445:SF0,Pfam_domain:PF02270,PIRSF_domain:PIRSF015849		Y/H		C	neutral	622/1432		getma.org/?cm=msa&ty=f&p=T2FB_HUMAN&rb=98&re=241&var=Y161H	tolerated(0.64)				YES	GTF2F2,missense_variant,p.Tyr161His,ENST00000340473,NM_004128.2;GTF2F2,non_coding_transcript_exon_variant,,ENST00000494087,;GTF2F2,non_coding_transcript_exon_variant,,ENST00000461904,;							MODERATE	481/750	Y161H	T2FB_HUMAN			Transcript		benign(0.004)	.	ENSP00000340823		CCDS9395.1			1	
UGGT1	0	LGGM	GRCh37	2	128918830	128918830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	43	22	.	.	ENST00000259253.6:c.2813T>C	p.Val938Ala	p.V938A	ENST00000259253	NM_020120.3	938	gTa/gCa	0	1	1	UPI00000707D8	0	NA	ENST00000259253		ENSG00000136731	15663		65	1.67		HGNC	p.V938A		UGGT1		SNV							ENST00000259253	protein_coding	getma.org/?cm=var&var=hg19,2,128918830,T,C&fts=all		hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3		V/A		C	low	2860/10650		getma.org/?cm=msa&ty=f&p=UGGG1_HUMAN&rb=801&re=943&var=V938A	tolerated(0.45)				YES	UGGT1,missense_variant,p.Val914Ala,ENST00000375990,;UGGT1,missense_variant,p.Val938Ala,ENST00000259253,NM_020120.3;UGGT1,3_prime_UTR_variant,,ENST00000376723,;UGGT1,3_prime_UTR_variant,,ENST00000438277,;UGGT1,downstream_gene_variant,,ENST00000488439,;							MODERATE	2813/4668	V938A	UGGG1_HUMAN			Transcript		benign(0.002)	.	ENSP00000259253		CCDS2154.1			1	
ING5	0	LGGM	GRCh37	2	242662673	242662673	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	51	23	.	.	ENST00000313552.6:c.667C>T	p.Pro223Ser	p.P223S	ENST00000313552	NM_032329.4	223	Ccc/Tcc	0	1	1	UPI00000702CD	0	getma.org/pdb.php?prot=ING5_HUMAN&from=188&to=235&var=P223S	ENST00000313552		ENSG00000168395	19421		74	3.555		HGNC	p.P223S		ING5		SNV							ENST00000313552	protein_coding	getma.org/?cm=var&var=hg19,2,242662673,C,T&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00628,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,hmmpanther:PTHR10333,hmmpanther:PTHR10333:SF41,SMART_domains:SM00249,Superfamily_domains:SSF57903		P/S		T	high	693/5196		getma.org/?cm=msa&ty=f&p=ING5_HUMAN&rb=188&re=235&var=P223S	deleterious(0)				YES	ING5,missense_variant,p.Pro223Ser,ENST00000313552,NM_032329.4;ING5,missense_variant,p.Pro223Ser,ENST00000406941,;AC114730.11,downstream_gene_variant,,ENST00000435195,;ING5,non_coding_transcript_exon_variant,,ENST00000493578,;ING5,downstream_gene_variant,,ENST00000482774,;ING5,upstream_gene_variant,,ENST00000474238,;ING5,upstream_gene_variant,,ENST00000486061,;ING5,downstream_gene_variant,,ENST00000489509,;ING5,downstream_gene_variant,,ENST00000445620,;							MODERATE	667/723	P223S	ING5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322142		CCDS33425.1			1	
OR8B12	0	LGGM	GRCh37	11	124413425	124413425	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	29	23	.	.	ENST00000306842.2:c.126G>A	p.Leu42=	p.L42=	ENST00000306842	NM_001005195.1	42	ctG/ctA	0	1	1	UPI0000041E25	0		ENST00000306842		ENSG00000170953	15307		52			HGNC	p.L42L		OR8B12		SNV							ENST00000306842	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF267,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L		T		151/998							YES	OR8B12,synonymous_variant,p.=,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;							LOW	126/933		OR8BC_HUMAN			Transcript			.	ENSP00000307159		CCDS31711.1			1	
TAS2R16	0	LGGM	GRCh37	7	122635009	122635009	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	43	23	.	.	ENST00000249284.2:c.680G>T	p.Arg227Met	p.R227M	ENST00000249284	NM_016945.2	227	aGg/aTg	0	1	1	UPI0000038B18	0	NA	ENST00000249284		ENSG00000128519	14921		66	2.08		HGNC	p.R227M		TAS2R16		SNV			1				ENST00000249284	protein_coding	getma.org/?cm=var&var=hg19,7,122635009,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321		R/M		A	medium	746/996		getma.org/?cm=msa&ty=f&p=T2R16_HUMAN&rb=1&re=289&var=R227M	deleterious(0)	Q50KN6_HUMAN			YES	TAS2R16,missense_variant,p.Arg227Met,ENST00000249284,NM_016945.2;							MODERATE	680/876	R227M	T2R16_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000249284		CCDS5785.1			1	
KIAA1731	0	LGGM	GRCh37	11	93417173	93417173	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	46	24	.	.	ENST00000325212.6:c.993G>T	p.Leu331Phe	p.L331F	ENST00000325212		331	ttG/ttT	0	1	1	UPI0000251F0E	0	NA	ENST00000325212		ENSG00000166004	29366		70	1.995		HGNC	p.L331F		KIAA1731		SNV							ENST00000411936	protein_coding	getma.org/?cm=var&var=hg19,11,93417173,G,T&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22		L/F		T	medium	1155/8055		getma.org/?cm=msa&ty=f&p=K1731_HUMAN&rb=201&re=371&var=L331F	deleterious(0.02)	E9PM20_HUMAN			YES	KIAA1731,missense_variant,p.Leu331Phe,ENST00000325212,;KIAA1731,missense_variant,p.Leu331Phe,ENST00000411936,NM_033395.1;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;							MODERATE	993/7806	L331F	K1731_HUMAN			Transcript		benign(0.112)	.	ENSP00000316681		CCDS44708.1			1	
MYT1L	0	LGGM	GRCh37	2	1805543	1805543	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071899	H071899N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	80	26	.	.	ENST00000428368.2:c.3195G>T	p.Gln1065His	p.Q1065H	ENST00000428368		1065	caG/caT	0	1		UPI0000140B19	0	NA	ENST00000399161		ENSG00000186487	7623		106	1.2		HGNC	p.Q63H		MYT1L		SNV							ENST00000407844	protein_coding	getma.org/?cm=var&var=hg19,2,1805543,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816		Q/H		A	low	3949/7063		getma.org/?cm=msa&ty=f&p=MYT1L_HUMAN&rb=1035&re=1186&var=Q1067H	tolerated(0.34)					MYT1L,missense_variant,p.Gln1067His,ENST00000399161,NM_015025.2;MYT1L,missense_variant,p.Gln1065His,ENST00000428368,;MYT1L,missense_variant,p.Gln63His,ENST00000407844,;MYT1L,missense_variant,p.Gln121His,ENST00000399157,;							MODERATE	3201/3561	Q1067H	MYT1L_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000382114					1	
CYP3A4	0	LGGM	GRCh37	7	99358504	99358504	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	57	31	.	.	ENST00000336411.2:c.1354A>T	p.Met452Leu	p.M452L	ENST00000336411	NM_001202855.2	452	Atg/Ttg	0	1	1	UPI000013E0B7	0	getma.org/pdb.php?prot=CP3A4_HUMAN&from=38&to=493&var=M452L	ENST00000336411		ENSG00000160868	2637		88	0.765		HGNC	p.M302L	rs767370767	CYP3A4	6.06E-05	SNV			1				ENST00000354593	protein_coding	getma.org/?cm=var&var=hg19,7,99358504,T,A&fts=all		hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00385		M/L		A	neutral	1538/2153		getma.org/?cm=msa&ty=f&p=CP3A4_HUMAN&rb=38&re=493&var=M452L	tolerated(0.2)	Q9BZM0_HUMAN,Q7Z448_HUMAN,Q6GRK0_HUMAN,B4DPQ5_HUMAN			YES	CYP3A4,missense_variant,p.Met302Leu,ENST00000354593,;CYP3A4,missense_variant,p.Met452Leu,ENST00000336411,NM_001202855.2,NM_017460.5;							MODERATE	1354/1512	M452L	CP3A4_HUMAN			Transcript		benign(0.06)	.	ENSP00000337915	8.24E-06	CCDS5674.1			1	
ASXL2	0	LGGM	GRCh37	2	25966435	25966435	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	95	36	.	.	ENST00000435504.4:c.2771C>T	p.Ser924Phe	p.S924F	ENST00000435504		924	tCt/tTt	0	1	1	UPI00001DFBE8	0	NA	ENST00000435504		ENSG00000143970	23805		131	1.32		HGNC	p.S924F		ASXL2		SNV							ENST00000435504	protein_coding	getma.org/?cm=var&var=hg19,2,25966435,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578		S/F		A	low	3065/12878		getma.org/?cm=msa&ty=f&p=ASXL2_HUMAN&rb=788&re=987&var=S924F	tolerated(0.08)				YES	ASXL2,missense_variant,p.Ser924Phe,ENST00000435504,;ASXL2,missense_variant,p.Ser896Phe,ENST00000336112,NM_018263.4;ASXL2,intron_variant,,ENST00000272341,;ASXL2,intron_variant,,ENST00000404843,;							MODERATE	2771/4308	S924F	ASXL2_HUMAN			Transcript		benign(0.029)	.	ENSP00000391447					1	
OR4A15	0	LGGM	GRCh37	11	55135713	55135713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	86	37	.	.	ENST00000314706.3:c.354G>T	p.Lys118Asn	p.K118N	ENST00000314706	NM_001005275.1	118	aaG/aaT	0	1	1	UPI000004618F	0	getma.org/pdb.php?prot=O4A15_HUMAN&from=1&to=166&var=K118N	ENST00000314706		ENSG00000181958	15152		123	1.845		HGNC	p.K118N	rs373928337	OR4A15		SNV	A:0.0002						ENST00000314706	protein_coding	getma.org/?cm=var&var=hg19,11,55135713,G,T&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Superfamily_domains:SSF81321		K/N	A:0	T	low	354/1035	1.50E-05	getma.org/?cm=msa&ty=f&p=O4A15_HUMAN&rb=1&re=166&var=K118N	tolerated_low_confidence(0.12)				YES	OR4A15,missense_variant,p.Lys118Asn,ENST00000314706,NM_001005275.1;							MODERATE	354/1035	K118N	O4A15_HUMAN			Transcript		benign(0.086)	.	ENSP00000325065	8.24E-06	CCDS31500.1			1	
ZFHX4	0	LGGM	GRCh37	8	77761751	77761751	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	53	43	.	.	ENST00000521891.2:c.3649T>C	p.Tyr1217His	p.Y1217H	ENST00000521891	NM_024721.4	1217	Tat/Cat	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		96	1.5		HGNC	p.Y1191H		ZFHX4		SNV							ENST00000518282	protein_coding	getma.org/?cm=var&var=hg19,8,77761751,T,C&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00355		Y/H		C	low	4097/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=1152&re=1215&var=Y1172H		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Tyr1217His,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Tyr1172His,ENST00000455469,;ZFHX4,missense_variant,p.Tyr1191His,ENST00000518282,;ZFHX4,missense_variant,p.Tyr1172His,ENST00000050961,;ZFHX4,3_prime_UTR_variant,,ENST00000523625,;ZFHX4,upstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;							MODERATE	3649/10851	Y1172H				Transcript		possibly_damaging(0.607)	.	ENSP00000430497		CCDS47878.2			1	
PSG8	0	LGGM	GRCh37	19	43262407	43262407	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	126	53	.	.	ENST00000306511.4:c.456C>T	p.Ser152=	p.S152=	ENST00000306511	NM_182707.2	152	tcC/tcT	0	1	1	UPI0000071471	0		ENST00000306511		ENSG00000124467	9525		179			HGNC	p.S30S	COSM3534938,COSM3534939	PSG8		SNV						1,1	ENST00000406636	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,Superfamily_domains:SSF48726		S		A		554/1441							YES	PSG8,synonymous_variant,p.=,ENST00000404209,NM_001130167.1;PSG8,synonymous_variant,p.=,ENST00000406636,NM_001130168.1;PSG8,synonymous_variant,p.=,ENST00000306511,NM_182707.2;PSG8,intron_variant,,ENST00000401467,;PSG8,non_coding_transcript_exon_variant,,ENST00000600709,;PSG8,non_coding_transcript_exon_variant,,ENST00000469260,;PSG8,3_prime_UTR_variant,,ENST00000478387,;PSG8,upstream_gene_variant,,ENST00000466163,;					1,1		LOW	456/1281		PSG8_HUMAN			Transcript			.	ENSP00000305005		CCDS33037.1			1	
LMTK3	0	LGGM	GRCh37	19	49001383	49001383	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071899	H071899N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	69	56	.	.	ENST00000270238.3:c.3030C>T	p.Ser1010=	p.S1010=	ENST00000270238	NM_001080434.1	1010	tcC/tcT	0	1		UPI000013D87D	0		ENST00000600059		ENSG00000142235	19295		125			HGNC	p.S981S		LMTK3		SNV							ENST00000600059	protein_coding			hmmpanther:PTHR24417,hmmpanther:PTHR24417:SF1		S		A		3171/5113								LMTK3,synonymous_variant,p.=,ENST00000600059,;LMTK3,synonymous_variant,p.=,ENST00000270238,NM_001080434.1;							LOW	2943/4383		LMTK3_HUMAN			Transcript			.	ENSP00000472020					1	
PSG11	0	LGGM	GRCh37	19	43520078	43520078	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H071899	H071899N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	99	67	.	.	ENST00000401740.1:c.710-556T>G		*237*	ENST00000401740				0	1		UPI000004EE8C	0		ENST00000320078		ENSG00000243130	9516		166			HGNC	p.C184G	rs552401099	PSG11	0.000243	SNV				0.00164			ENST00000598133	protein_coding		C:0.0015					C		-/1575	0.000195				C:0.0014	C:0.001		PSG11,missense_variant,p.Cys184Gly,ENST00000598133,;PSG11,intron_variant,,ENST00000401740,;PSG11,intron_variant,,ENST00000320078,NM_002785.2;PSG11,intron_variant,,ENST00000403486,NM_203287.1,NM_001113410.1;PSG11,intron_variant,,ENST00000306322,;PSG11,downstream_gene_variant,,ENST00000595312,;PSG11,upstream_gene_variant,,ENST00000599976,;PSG11,3_prime_UTR_variant,,ENST00000593983,;PSG11,non_coding_transcript_exon_variant,,ENST00000595138,;PSG11,intron_variant,,ENST00000594655,;PSG11,downstream_gene_variant,,ENST00000597093,;PSG11,downstream_gene_variant,,ENST00000488205,;	0.000463	C:0.0008					MODIFIER	-/1008		PSG11_HUMAN		C:0	Transcript			common_variant	ENSP00000319140	0.000313	CCDS12614.2		C:0	1	
SLC4A9	0	LGGM	GRCh37	5	139742509	139742509	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071899	H071899N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071899N.bam, H071899T.bam	Illumina HiSeq	46	116	.	.	ENST00000230993.6:c.892T>A	p.Ser298Thr	p.S298T	ENST00000230993	NM_001258428.1	298	Tca/Aca	0	1		UPI000018336F	0	getma.org/pdb.php?prot=B3A4_HUMAN&from=193&to=330&var=S298T	ENST00000507527		ENSG00000113073	11035		162	0.145		HGNC	p.S274T		SLC4A9		SNV							ENST00000506545	protein_coding	getma.org/?cm=var&var=hg19,5,139742509,T,A&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF33,TIGRFAM_domain:TIGR00834,Pfam_domain:PF07565,Gene3D:1hynR00,Superfamily_domains:SSF55804		S/T		A	neutral	914/3258		getma.org/?cm=msa&ty=f&p=B3A4_HUMAN&rb=193&re=330&var=S298T	deleterious(0.04)					SLC4A9,missense_variant,p.Ser298Thr,ENST00000230993,NM_001258428.1;SLC4A9,missense_variant,p.Ser274Thr,ENST00000506757,NM_031467.2,NM_001258426.1;SLC4A9,missense_variant,p.Ser298Thr,ENST00000507527,;SLC4A9,missense_variant,p.Ser274Thr,ENST00000432095,;SLC4A9,missense_variant,p.Ser274Thr,ENST00000506545,NM_001258427.1;SLC4A9,upstream_gene_variant,,ENST00000514849,;							MODERATE	892/2952	S298T	B3A4_HUMAN			Transcript		benign(0.02)	.	ENSP00000427661		CCDS58973.1			1	
BTF3	0	LGGM	GRCh37	5	72798428	72798428	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	44	3	.	.	ENST00000380591.3:c.315+2C>A		p.X105_splice	ENST00000380591	NM_001037637.1			0	1	1	UPI0000049C1C	0		ENST00000380591		ENSG00000145741	1125		47			HGNC	-		BTF3		SNV							ENST00000335895	protein_coding							A		-/1237							YES	BTF3,splice_donor_variant,,ENST00000380591,NM_001037637.1;BTF3,splice_donor_variant,,ENST00000335895,NM_001207.4;BTF3,splice_donor_variant,,ENST00000509708,;BTF3,intron_variant,,ENST00000507081,;RP11-79P5.9,upstream_gene_variant,,ENST00000607001,;BTF3,splice_donor_variant,,ENST00000514505,;BTF3,splice_donor_variant,,ENST00000508901,;BTF3,non_coding_transcript_exon_variant,,ENST00000514360,;BTF3,non_coding_transcript_exon_variant,,ENST00000510787,;BTF3,downstream_gene_variant,,ENST00000512257,;							HIGH	315/621		BTF3_HUMAN			Transcript			.	ENSP00000369965		CCDS34185.1			1	
SART1	0	LGGM	GRCh37	11	65729268	65729268	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	7	3	.	.	ENST00000312397.5:c.17A>G	p.Lys6Arg	p.K6R	ENST00000312397	NM_005146.4	6	aAg/aGg	0	1	1	UPI00000732D5	0	NA	ENST00000312397		ENSG00000175467	10538		10	0		HGNC	p.K6R		SART1		SNV							ENST00000530251	protein_coding	getma.org/?cm=var&var=hg19,11,65729268,A,G&fts=all				K/R		G	neutral	109/3293		getma.org/?cm=msa&ty=f&p=SNUT1_HUMAN&rb=1&re=115&var=K6R	deleterious_low_confidence(0)				YES	SART1,missense_variant,p.Lys6Arg,ENST00000312397,NM_005146.4;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;TSGA10IP,downstream_gene_variant,,ENST00000532620,;TSGA10IP,downstream_gene_variant,,ENST00000533763,;TSGA10IP,downstream_gene_variant,,ENST00000534740,;SART1,missense_variant,p.Lys6Arg,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,non_coding_transcript_exon_variant,,ENST00000532333,;TSGA10IP,downstream_gene_variant,,ENST00000608857,NM_152762.2;							MODERATE	17/2403	K6R	SNUT1_HUMAN			Transcript		benign(0.292)	.	ENSP00000310448		CCDS31611.1			1	
HYDIN	0	LGGM	GRCh37	16	70913555	70913555	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	19	3	.	.	ENST00000393567.2:c.10320G>T	p.Met3440Ile	p.M3440I	ENST00000393567	NM_001270974.1	3440	atG/atT	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		22	1.485		HGNC	p.M3439I		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,70913555,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		M/I		A	low	10471/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=M3440I		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Met3440Ile,ENST00000393567,NM_001270974.1;							MODERATE	10320/15366	M3440I	HYDIN_HUMAN			Transcript		benign(0.216)	.	ENSP00000377197		CCDS59269.1			1	
RP11-683L23.1	0	LGGM	GRCh37	18	49075	49075	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	52	4	.	.	ENST00000308911.6:c.167-25G>A		*56*	ENST00000308911				0	1	1	UPI000049DE76	0		ENST00000308911		ENSG00000173213		0.00185	56			Clone_based_vega_gene	p.S48S	rs569602337	RP11-683L23.1	6.16E-05	SNV				0.000367			ENST00000573909	protein_coding		T:0					T		-/1335	0.000414				T:0.0014	T:0	YES	RP11-683L23.1,synonymous_variant,p.=,ENST00000573909,;RP11-683L23.1,intron_variant,,ENST00000308911,;RP11-683L23.1,upstream_gene_variant,,ENST00000594555,;RP11-683L23.1,downstream_gene_variant,,ENST00000575325,;RP11-683L23.1,downstream_gene_variant,,ENST00000572530,;RP11-683L23.2,downstream_gene_variant,,ENST00000575066,;		T:0.0002					MODIFIER	-/1335		TBB8L_HUMAN		T:0	Transcript			common_variant	ENSP00000309431	0.000424			T:0	1	
HTR1A	0	LGGM	GRCh37	5	63256897	63256897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	81	4	.	.	ENST00000323865.3:c.650G>A	p.Arg217His	p.R217H	ENST00000323865	NM_000524.3	217	cGc/cAc	0	1	1	UPI0000124F1A	0	getma.org/pdb.php?prot=5HT1A_HUMAN&from=53&to=400&var=R217H	ENST00000323865		ENSG00000178394	5286		85	2.55		HGNC	p.R217H	COSM1486892	HTR1A		SNV			1			1	ENST00000323865	protein_coding	getma.org/?cm=var&var=hg19,5,63256897,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		R/H		T	medium	884/1598		getma.org/?cm=msa&ty=f&p=5HT1A_HUMAN&rb=53&re=400&var=R217H	deleterious(0)	Q5ZGX3_HUMAN,D6RA34_HUMAN			YES	HTR1A,missense_variant,p.Arg217His,ENST00000323865,NM_000524.3;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;					1		MODERATE	650/1269	R217H	5HT1A_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000316244		CCDS34168.1			1	
AXIN1	0	LGGM	GRCh37	16	354422	354422	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	10	4	.	.	ENST00000262320.3:c.1136A>G	p.Lys379Arg	p.K379R	ENST00000262320	NM_003502.3	379	aAg/aGg	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		14	2.05		HGNC	p.K379R		AXIN1		SNV			1				ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,354422,T,C&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11		K/R		C	medium	1508/3643		getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=211&re=410&var=K379R	tolerated(0.05)				YES	AXIN1,missense_variant,p.Lys379Arg,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Lys379Arg,ENST00000354866,NM_181050.2;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;							MODERATE	1136/2589	K379R	AXIN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262320		CCDS10405.1			1	
KSR1	0	LGGM	GRCh37	17	25924305	25924305	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	15	4	.	.	ENST00000398988.3:c.900G>A	p.Pro300=	p.P300=	ENST00000398988	NM_014238.1	300	ccG/ccA	0	1	1	UPI00005B2F0C	0		ENST00000398988		ENSG00000141068	6465		19			HGNC	p.P172P	rs774836293	KSR1		SNV							ENST00000398982	protein_coding			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413		P		A		1345/7234	0.0001			J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN			YES	KSR1,synonymous_variant,p.=,ENST00000398988,NM_014238.1;KSR1,synonymous_variant,p.=,ENST00000319524,;KSR1,synonymous_variant,p.=,ENST00000268763,;KSR1,synonymous_variant,p.=,ENST00000509603,;KSR1,synonymous_variant,p.=,ENST00000398982,;KSR1,non_coding_transcript_exon_variant,,ENST00000581975,;KSR1,non_coding_transcript_exon_variant,,ENST00000579961,;KSR1,downstream_gene_variant,,ENST00000577823,;KSR1,upstream_gene_variant,,ENST00000583525,;							LOW	900/2289					Transcript			.	ENSP00000381958	2.48E-05	CCDS58532.1			1	
RYR1	0	LGGM	GRCh37	19	39076801	39076801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	64	4	.	.	ENST00000359596.3:c.14939C>A	p.Thr4980Lys	p.T4980K	ENST00000359596		4980	aCg/aAg	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		68	2.685		HGNC	p.T4975K		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,39076801,C,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		T/K		A	medium	14939/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=4938&re=5038&var=T4980K		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Thr4975Lys,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Thr4975Lys,ENST00000360985,;RYR1,missense_variant,p.Thr4980Lys,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,;							MODERATE	14939/15117	T4980K	RYR1_HUMAN			Transcript		unknown(0)	.	ENSP00000352608		CCDS33011.1			1	
AXIN1	0	LGGM	GRCh37	16	354420	354420	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	10	4	.	.	ENST00000262320.3:c.1138G>T	p.Glu380Ter	p.E380*	ENST00000262320	NM_003502.3	380	Gag/Tag	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		14	0		HGNC	p.E380X		AXIN1		SNV			1				ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,354420,C,A&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11		E/*		A	NA	1510/3643		NA					YES	AXIN1,stop_gained,p.Glu380Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Glu380Ter,ENST00000354866,NM_181050.2;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;							HIGH	1138/2589	E380*	AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
ANKRD52	0	LGGM	GRCh37	12	56642556	56642556	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	13	5	.	.	ENST00000267116.7:c.1691A>G	p.Gln564Arg	p.Q564R	ENST00000267116	NM_173595.3	564	cAg/cGg	0	1	1	UPI0000237861	0	getma.org/pdb.php?prot=ANR52_HUMAN&from=504&to=579&var=Q564R	ENST00000267116		ENSG00000139645	26614		18	0.87		HGNC	p.Q564R		ANKRD52		SNV							ENST00000267116	protein_coding	getma.org/?cm=var&var=hg19,12,56642556,T,C&fts=all		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		Q/R		C	low	1813/8688		getma.org/?cm=msa&ty=f&p=ANR52_HUMAN&rb=504&re=579&var=Q564R	tolerated(0.85)				YES	ANKRD52,missense_variant,p.Gln564Arg,ENST00000267116,NM_173595.3;ANKRD52,upstream_gene_variant,,ENST00000548241,;							MODERATE	1691/3231	Q564R	ANR52_HUMAN			Transcript		benign(0.112)	.	ENSP00000267116		CCDS44920.1			1	
EP400	0	LGGM	GRCh37	12	132475980	132475980	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	69	6	.	.	ENST00000389561.2:c.2658C>T	p.Asp886=	p.D886=	ENST00000389561	NM_015409.4	886	gaC/gaT	0	1	1	UPI00004566BC	0		ENST00000389561		ENSG00000183495	11958		75			HGNC	p.D886D	rs528177371	EP400	0.000182	SNV							ENST00000541296	protein_coding			hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		D		T		2767/12268	1.50E-05						YES	EP400,synonymous_variant,p.=,ENST00000333577,;EP400,synonymous_variant,p.=,ENST00000389561,NM_015409.4;EP400,synonymous_variant,p.=,ENST00000389562,;EP400,synonymous_variant,p.=,ENST00000332482,;EP400,synonymous_variant,p.=,ENST00000330386,;							LOW	2658/9372		EP400_HUMAN			Transcript			.	ENSP00000374212	3.29E-05	CCDS31929.2			1	
MPO	0	LGGM	GRCh37	17	56356984	56356984	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	9	7	.	.	ENST00000225275.3:c.448A>G	p.Asn150Asp	p.N150D	ENST00000225275	NM_000250.1	150	Aat/Gat	0	1	1	UPI0000131634	0	NA	ENST00000225275		ENSG00000005381	7218		16	1.21		HGNC	p.N150D		MPO		SNV			1				ENST00000225275	protein_coding	getma.org/?cm=var&var=hg19,17,56356984,T,C&fts=all		hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10		N/D		C	low	625/3215		getma.org/?cm=msa&ty=f&p=PERM_HUMAN&rb=1&re=172&var=N150D	tolerated(0.55)				YES	MPO,missense_variant,p.Asn150Asp,ENST00000340482,;MPO,missense_variant,p.Asn150Asp,ENST00000225275,NM_000250.1;MPO,upstream_gene_variant,,ENST00000578493,;MPO,downstream_gene_variant,,ENST00000580005,;MPO,upstream_gene_variant,,ENST00000581022,;							MODERATE	448/2238	N150D	PERM_HUMAN			Transcript		benign(0.001)	.	ENSP00000225275		CCDS11604.1			1	
HELT	0	LGGM	GRCh37	4	185941667	185941667	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	16	8	.	.	ENST00000338875.4:c.725C>T	p.Ala242Val	p.A242V	ENST00000338875	NM_001029887.1	242	gCt/gTt	0	1		UPI000189A80D	0	NA	ENST00000515777		ENSG00000187821	33783		24	0.695		HGNC	p.A157V		HELT		SNV							ENST00000515777	protein_coding	getma.org/?cm=var&var=hg19,4,185941667,C,T&fts=all		hmmpanther:PTHR10985:SF8,hmmpanther:PTHR10985		A/V		T	neutral	558/841		getma.org/?cm=msa&ty=f&p=HELT_HUMAN&rb=214&re=327&var=A242V	tolerated(0.27)	B7ZMI7_HUMAN				HELT,missense_variant,p.Ala242Val,ENST00000338875,NM_001029887.1;HELT,missense_variant,p.Ala156Val,ENST00000505610,;HELT,missense_variant,p.Ala157Val,ENST00000515777,;HELT,non_coding_transcript_exon_variant,,ENST00000513599,;							MODERATE	470/729	A242V				Transcript		benign(0.008)	.	ENSP00000426033					1	
EBP	0	LGGM	GRCh37	X	48386707	48386707	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	3	8	.	.	ENST00000495186.1:c.555del	p.Trp186GlyfsTer7	p.W186Gfs*7	ENST00000495186	NM_006579.2	185	ttC/tt	0	1	1	UPI000000DB82	0		ENST00000495186		ENSG00000147155	3133		11			HGNC	p.F185fs		EBP		deletion			1				ENST00000495186	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR14207:SF0,hmmpanther:PTHR14207,Pfam_domain:PF05241		F/X		-		1378/1775				C9JJ78_HUMAN,C9J719_HUMAN			YES	EBP,frameshift_variant,p.Trp186GlyfsTer7,ENST00000495186,NM_006579.2;EBP,downstream_gene_variant,,ENST00000446158,;EBP,downstream_gene_variant,,ENST00000414061,;EBP,non_coding_transcript_exon_variant,,ENST00000276096,;EBP,non_coding_transcript_exon_variant,,ENST00000498425,;EBP,downstream_gene_variant,,ENST00000466461,;							HIGH	555/693		EBP_HUMAN			Transcript			.	ENSP00000417052		CCDS14300.1			1	
KCNJ12	0	LGGM	GRCh37	17	21318708	21318708	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	19	8	.	.	ENST00000583088.1:c.54C>T	p.Asp18=	p.D18=	ENST00000583088	NM_021012.4	18	gaC/gaT	0	1		UPI00000725C7	0		ENST00000331718		ENSG00000184185	6258		27			HGNC	p.D18D	rs781815544	KCNJ12	0.000182	SNV							ENST00000331718	protein_coding			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF08466		D		T		424/2198								KCNJ12,synonymous_variant,p.=,ENST00000583088,NM_021012.4;KCNJ12,synonymous_variant,p.=,ENST00000331718,NM_001194958.2;	0.000116						LOW	54/1302		IRK12_HUMAN			Transcript			.	ENSP00000328150	3.29E-05	CCDS11219.1			1	
THAP5	0	LGGM	GRCh37	7	108204788	108204788	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	159	9	.	.	ENST00000415914.3:c.1035A>G	p.Ile345Met	p.I345M	ENST00000415914	NM_001130475.1	345	atA/atG	0	1	1	UPI00003E4106	0	NA	ENST00000415914		ENSG00000177683	23188		168	0.895		HGNC	p.I345M		THAP5		SNV							ENST00000415914	protein_coding	getma.org/?cm=var&var=hg19,7,108204788,T,C&fts=all		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF64		I/M		C	low	1189/3306		getma.org/?cm=msa&ty=f&p=THAP5_HUMAN&rb=314&re=393&var=I345M	deleterious(0)				YES	THAP5,missense_variant,p.Ile345Met,ENST00000415914,NM_001130475.1;THAP5,missense_variant,p.Ile303Met,ENST00000313516,NM_182529.3;THAP5,downstream_gene_variant,,ENST00000438865,;PNPLA8,intron_variant,,ENST00000489738,;THAP5,intron_variant,,ENST00000468884,;THAP5,downstream_gene_variant,,ENST00000493722,;THAP5,downstream_gene_variant,,ENST00000412935,;THAP5,downstream_gene_variant,,ENST00000446771,;THAP5,downstream_gene_variant,,ENST00000484452,;							MODERATE	1035/1188	I345M	THAP5_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000400500		CCDS47687.1			1	
DSCAM	0	LGGM	GRCh37	21	42064872	42064872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	47	9	.	.	ENST00000400454.1:c.372G>T	p.Glu124Asp	p.E124D	ENST00000400454	NM_001271534.1	124	gaG/gaT	0	1	1	UPI00000422DF	0	getma.org/pdb.php?prot=DSCAM_HUMAN&from=121&to=217&var=E124D	ENST00000400454		ENSG00000171587	3039		56	1.5		HGNC	p.E124D		DSCAM		SNV							ENST00000400454	protein_coding	getma.org/?cm=var&var=hg19,21,42064872,C,A&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16		E/D		A	low	850/8552		getma.org/?cm=msa&ty=f&p=DSCAM_HUMAN&rb=121&re=217&var=E124D	tolerated(0.08)				YES	DSCAM,missense_variant,p.Glu124Asp,ENST00000400454,NM_001271534.1,NM_001389.3;							MODERATE	372/6039	E124D	DSCAM_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383303		CCDS42929.1			1	
HIST1H4H	0	LGGM	GRCh37	6	26285438	26285438	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	30	9	.	.	ENST00000289352.1:c.290C>G	p.Thr97Ser	p.T97S	ENST00000289352		97	aCt/aGt	0	1	1	UPI000000003C	0		ENST00000289352		ENSG00000158406	4788		39			HGNC	p.T97S		HIST1H4H		SNV							ENST00000289352	protein_coding			Prints_domain:PR00623,Superfamily_domains:SSF47113,Gene3D:1.10.20.10,hmmpanther:PTHR10484		T/S		C		325/1034			deleterious(0.03)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4H,missense_variant,p.Thr97Ser,ENST00000289352,;HIST1H4H,missense_variant,p.Thr97Ser,ENST00000377727,NM_003543.3;							MODERATE	290/312		H4_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000289352		CCDS4604.1			1	
ABTB3	0	LGGM	GRCh37	12	108008861	108008861	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	17	10	.	.	ENST00000280758.5:c.1923T>G	p.Tyr641Ter	p.Y641*	ENST00000280758	NM_001018072.1	641	taT/taG	0	1	1	UPI000051901E	0	NA	ENST00000280758		ENSG00000151136	23844		27	0		HGNC	p.Y178X		BTBD11		SNV							ENST00000357167	protein_coding	getma.org/?cm=var&var=hg19,12,108008861,T,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,Superfamily_domains:SSF48403		Y/*		G	NA	2451/5767		NA		B3KY13_HUMAN,B3KXB0_HUMAN			YES	BTBD11,stop_gained,p.Tyr641Ter,ENST00000280758,NM_001018072.1;BTBD11,stop_gained,p.Tyr641Ter,ENST00000490090,;BTBD11,stop_gained,p.Tyr178Ter,ENST00000357167,NM_001017523.1;BTBD11,stop_gained,p.Tyr641Ter,ENST00000420571,;BTBD11,downstream_gene_variant,,ENST00000415943,;BTBD11,downstream_gene_variant,,ENST00000550706,;RP11-128P10.1,intron_variant,,ENST00000548473,;							HIGH	1923/3315	Y641*	BTBDB_HUMAN			Transcript			.	ENSP00000280758		CCDS31893.1			1	
MYH1	0	LGGM	GRCh37	17	10404606	10404606	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	63	10	.	.	ENST00000226207.5:c.3559C>G	p.Leu1187Val	p.L1187V	ENST00000226207	NM_005963.3	1187	Cta/Gta	0	1	1	UPI000013C891	0	NA	ENST00000226207		ENSG00000109061	7567		73	3.14		HGNC	p.L1187V		MYH1		SNV							ENST00000226207	protein_coding	getma.org/?cm=var&var=hg19,17,10404606,G,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264		L/V		C	medium	3654/6024		getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=1072&re=1930&var=L1187V	deleterious(0)				YES	MYH1,missense_variant,p.Leu1187Val,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	3559/5820	L1187V	MYH1_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000226207		CCDS11155.1			1	
GALNT14	0	LGGM	GRCh37	2	31147650	31147650	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	21	11	.	.	ENST00000324589.5:c.1206C>A	p.Cys402Ter	p.C402*	ENST00000324589	NM_001253826.1	402	tgC/tgA	0	1		UPI000000D723	0	NA	ENST00000349752		ENSG00000158089	22946		32	0		HGNC	p.C362X		GALNT14		SNV							ENST00000420311	protein_coding	getma.org/?cm=var&var=hg19,2,31147650,G,T&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448		C/*		T	NA	1831/2733		NA						GALNT14,stop_gained,p.Cys397Ter,ENST00000349752,NM_024572.3;GALNT14,stop_gained,p.Cys377Ter,ENST00000406653,NM_001253827.1;GALNT14,stop_gained,p.Cys402Ter,ENST00000324589,NM_001253826.1;GALNT14,stop_gained,p.Cys364Ter,ENST00000356174,;GALNT14,stop_gained,p.Cys362Ter,ENST00000420311,;GALNT14,stop_gained,p.Cys364Ter,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000475320,;GALNT14,intron_variant,,ENST00000486564,;GALNT14,downstream_gene_variant,,ENST00000455477,;							HIGH	1191/1659	C397*	GLT14_HUMAN			Transcript			.	ENSP00000288988		CCDS1773.2			1	
IL16	0	LGGM	GRCh37	15	81558126	81558126	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	24	11	.	.	ENST00000302987.4:c.548C>A	p.Pro183Gln	p.P183Q	ENST00000302987		183	cCa/cAa	0	1	1	UPI0000229CE7	0	NA	ENST00000302987		ENSG00000172349	5980		35	0.55		HGNC	p.P183Q		IL16		SNV							ENST00000394660	protein_coding	getma.org/?cm=var&var=hg19,15,81558126,C,A&fts=all		hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2		P/Q		A	neutral	548/3999		getma.org/?cm=msa&ty=f&p=IL16_HUMAN&rb=180&re=215&var=P183Q	deleterious(0.05)	H0YLL1_HUMAN			YES	IL16,missense_variant,p.Pro183Gln,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,missense_variant,p.Pro183Gln,ENST00000302987,;IL16,missense_variant,p.Pro183Gln,ENST00000559388,;IL16,missense_variant,p.Pro183Gln,ENST00000559383,;IL16,missense_variant,p.Pro183Gln,ENST00000360547,;IL16,missense_variant,p.Pro183Gln,ENST00000560241,;							MODERATE	548/3999	P183Q	IL16_HUMAN			Transcript		benign(0.018)	.	ENSP00000302935		CCDS42069.1			1	
UMODL1	0	LGGM	GRCh37	21	43519287	43519287	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	18	11	.	.	ENST00000408989.2:c.1183A>C	p.Thr395Pro	p.T395P	ENST00000408989	NM_173568.3	395	Acc/Ccc	0	1		UPI00006C2192	0	NA	ENST00000408910		ENSG00000177398	12560		29	2.19		HGNC	p.T395P		UMODL1		SNV							ENST00000408989	protein_coding	getma.org/?cm=var&var=hg19,21,43519287,A,C&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,Superfamily_domains:SSF49265		T/P		C	medium	1183/4878		getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=395&re=501&var=T395P	deleterious(0)	Q6L9N9_HUMAN				UMODL1,missense_variant,p.Thr323Pro,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Thr323Pro,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Thr395Pro,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Thr395Pro,ENST00000408910,NM_001004416.2;C21orf128,downstream_gene_variant,,ENST00000329015,;UMODL1,missense_variant,p.Thr231Pro,ENST00000400421,;UMODL1,3_prime_UTR_variant,,ENST00000491559,;UMODL1,3_prime_UTR_variant,,ENST00000466434,;UMODL1,3_prime_UTR_variant,,ENST00000468982,;UMODL1,3_prime_UTR_variant,,ENST00000485357,;UMODL1,3_prime_UTR_variant,,ENST00000497243,;							MODERATE	1183/3957	T395P	UROL1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000386147		CCDS42936.1			1	
MFHAS1	0	LGGM	GRCh37	8	8748104	8748104	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	62	11	.	.	ENST00000276282.6:c.2465A>G	p.Glu822Gly	p.E822G	ENST00000276282	NM_004225.2	822	gAg/gGg	0	1	1	UPI000013DAB6	0	NA	ENST00000276282		ENSG00000147324	16982		73	1.61		HGNC	p.E822G		MFHAS1		SNV							ENST00000276282	protein_coding	getma.org/?cm=var&var=hg19,8,8748104,T,C&fts=all		Low_complexity_(Seg):seg		E/G		C	low	3052/6414		getma.org/?cm=msa&ty=f&p=MFHA1_HUMAN&rb=421&re=1050&var=E822G	deleterious(0.01)				YES	MFHAS1,missense_variant,p.Glu822Gly,ENST00000276282,NM_004225.2;							MODERATE	2465/3159	E822G	MFHA1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000276282		CCDS34844.1			1	
PTPRN2	0	LGGM	GRCh37	7	157341641	157341641	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	36	12	.	.	ENST00000389418.4:c.2975A>G	p.Lys992Arg	p.K992R	ENST00000389418	NM_002847.3	992	aAg/aGg	0	1	1	UPI000002E7C7	0	getma.org/pdb.php?prot=PTPR2_HUMAN&from=770&to=1004&var=K992R	ENST00000389418		ENSG00000155093	9677		48	1.825		HGNC	p.K975R		PTPRN2		SNV							ENST00000389416	protein_coding	getma.org/?cm=var&var=hg19,7,157341641,T,C&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		K/R		C	low	2985/4706		getma.org/?cm=msa&ty=f&p=PTPR2_HUMAN&rb=770&re=1004&var=K992R	deleterious(0)	Q9NSR5_HUMAN			YES	PTPRN2,missense_variant,p.Lys963Arg,ENST00000389413,NM_130843.2;PTPRN2,missense_variant,p.Lys954Arg,ENST00000409483,;PTPRN2,missense_variant,p.Lys992Arg,ENST00000389418,NM_002847.3;PTPRN2,missense_variant,p.Lys975Arg,ENST00000389416,NM_130842.2;PTPRN2,missense_variant,p.Lys1015Arg,ENST00000404321,;							MODERATE	2975/3048	K992R	PTPR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374069		CCDS5947.1			1	
C6ORF165	0	LGGM	GRCh37	6	88123541	88123541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	47	12	.	.	ENST00000369562.4:c.206G>A	p.Arg69Gln	p.R69Q	ENST00000369562	NM_001031743.2	69	cGg/cAg	0	1	1	UPI00001A3AA5	0	NA	ENST00000369562		ENSG00000272514			59	2.225		Uniprot_gn	p.R69Q		C6ORF165		SNV							ENST00000507897	protein_coding	getma.org/?cm=var&var=hg19,6,88123541,G,A&fts=all		hmmpanther:PTHR21442,hmmpanther:PTHR21442:SF0		R/Q		A	medium	318/2196		getma.org/?cm=msa&ty=f&p=CF165_HUMAN&rb=1&re=200&var=R69Q	deleterious(0.03)	Q8N771_HUMAN,H0UI21_HUMAN,D6RBZ4_HUMAN			YES	C6ORF165,missense_variant,p.Arg69Gln,ENST00000369562,NM_001031743.2;C6ORF165,missense_variant,p.Arg69Gln,ENST00000480123,;C6orf165,missense_variant,p.Arg69Gln,ENST00000507897,;C6ORF165,missense_variant,p.Arg69Gln,ENST00000489338,;C6ORF165,non_coding_transcript_exon_variant,,ENST00000296885,;							MODERATE	206/1869	R69Q				Transcript		benign(0.284)	.	ENSP00000358575		CCDS34498.1			1	
CCM2	0	LGGM	GRCh37	7	45113094	45113094	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	17	12	.	.	ENST00000381112.3:c.902C>G	p.Ser301Ter	p.S301*	ENST00000381112	NM_001029835.2	301	tCa/tGa	0	1		UPI000006CE51	0	NA	ENST00000258781		ENSG00000136280	21708		29	0		HGNC	p.S301X		CCM2		SNV			1				ENST00000381112	protein_coding	getma.org/?cm=var&var=hg19,7,45113094,C,G&fts=all		hmmpanther:PTHR21642,hmmpanther:PTHR21642:SF4		S/*		G	NA	988/1894		NA						CCM2,stop_gained,p.Ser274Ter,ENST00000475551,;CCM2,stop_gained,p.Ser301Ter,ENST00000381112,NM_001029835.2;CCM2,stop_gained,p.Ser280Ter,ENST00000258781,NM_031443.3;CCM2,stop_gained,p.Ser222Ter,ENST00000541586,NM_001167934.1;CCM2,stop_gained,p.Ser189Ter,ENST00000544363,NM_001167935.1;CCM2,stop_gained,p.Ser183Ter,ENST00000474617,;CCM2,downstream_gene_variant,,ENST00000480382,;CCM2,non_coding_transcript_exon_variant,,ENST00000461377,;CCM2,non_coding_transcript_exon_variant,,ENST00000478582,;CCM2,downstream_gene_variant,,ENST00000482714,;CCM2,downstream_gene_variant,,ENST00000472223,;CCM2,missense_variant,p.His261Asp,ENST00000488727,;CCM2,non_coding_transcript_exon_variant,,ENST00000481194,;CCM2,non_coding_transcript_exon_variant,,ENST00000477605,;CCM2,non_coding_transcript_exon_variant,,ENST00000470837,;CCM2,downstream_gene_variant,,ENST00000480658,;CCM2,downstream_gene_variant,,ENST00000492883,;							HIGH	839/1335	S280*	CCM2_HUMAN			Transcript			.	ENSP00000258781		CCDS5500.1			1	
TNFAIP3	0	LGGM	GRCh37	6	138197263	138197263	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	46	12	.	.	ENST00000237289.4:c.765T>A	p.His255Gln	p.H255Q	ENST00000237289	NM_001270507.1	255	caT/caA	0	1	1	UPI000000D92D	0	getma.org/pdb.php?prot=TNAP3_HUMAN&from=98&to=257&var=H255Q	ENST00000237289		ENSG00000118503	11896		58	-1.735		HGNC	p.H255Q		TNFAIP3		SNV							ENST00000237289	protein_coding	getma.org/?cm=var&var=hg19,6,138197263,T,A&fts=all		Pfam_domain:PF02338,hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF3,PROSITE_profiles:PS50802		H/Q		A	neutral	831/4432		getma.org/?cm=msa&ty=f&p=TNAP3_HUMAN&rb=98&re=257&var=H255Q	tolerated(1)	Q5VXR0_HUMAN,Q5VXQ9_HUMAN,Q5VXQ8_HUMAN,Q5PY18_HUMAN,D3TTZ5_HUMAN,D3TTZ0_HUMAN,D3TTY6_HUMAN			YES	TNFAIP3,missense_variant,p.His255Gln,ENST00000237289,NM_001270507.1,NM_001270508.1,NM_006290.3;TNFAIP3,downstream_gene_variant,,ENST00000420009,;TNFAIP3,downstream_gene_variant,,ENST00000433680,;TNFAIP3,downstream_gene_variant,,ENST00000421450,;TNFAIP3,non_coding_transcript_exon_variant,,ENST00000485192,;							MODERATE	765/2373	H255Q	TNAP3_HUMAN			Transcript		benign(0)	.	ENSP00000237289		CCDS5187.1			1	
TNFAIP3	0	LGGM	GRCh37	6	138197264	138197264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	46	12	.	.	ENST00000237289.4:c.766C>A	p.His256Asn	p.H256N	ENST00000237289	NM_001270507.1	256	Cat/Aat	0	1	1	UPI000000D92D	0	getma.org/pdb.php?prot=TNAP3_HUMAN&from=98&to=257&var=H256N	ENST00000237289		ENSG00000118503	11896		58	2.175		HGNC	p.H256N		TNFAIP3		SNV							ENST00000237289	protein_coding	getma.org/?cm=var&var=hg19,6,138197264,C,A&fts=all		Pfam_domain:PF02338,hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF3,PROSITE_profiles:PS50802		H/N		A	medium	832/4432		getma.org/?cm=msa&ty=f&p=TNAP3_HUMAN&rb=98&re=257&var=H256N	tolerated(0.05)	Q5VXR0_HUMAN,Q5VXQ9_HUMAN,Q5VXQ8_HUMAN,Q5PY18_HUMAN,D3TTZ5_HUMAN,D3TTZ0_HUMAN,D3TTY6_HUMAN			YES	TNFAIP3,missense_variant,p.His256Asn,ENST00000237289,NM_001270507.1,NM_001270508.1,NM_006290.3;TNFAIP3,downstream_gene_variant,,ENST00000420009,;TNFAIP3,downstream_gene_variant,,ENST00000433680,;TNFAIP3,downstream_gene_variant,,ENST00000421450,;TNFAIP3,non_coding_transcript_exon_variant,,ENST00000485192,;							MODERATE	766/2373	H256N	TNAP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000237289		CCDS5187.1			1	
APPL2	0	LGGM	GRCh37	12	105589092	105589092	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	22	13	.	.	ENST00000551662.1:c.1206A>C	p.Gln402His	p.Q402H	ENST00000551662		402	caA/caC	0	1		UPI000006D221	0	NA	ENST00000258530		ENSG00000136044	18242		35	1.59		HGNC	p.Q402H		APPL2		SNV							ENST00000551662	protein_coding	getma.org/?cm=var&var=hg19,12,105589092,T,G&fts=all		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF207		Q/H		G	low	1414/3239		getma.org/?cm=msa&ty=f&p=DP13B_HUMAN&rb=376&re=493&var=Q396H	deleterious(0.02)	F8W124_HUMAN				APPL2,missense_variant,p.Gln396His,ENST00000258530,NM_001251904.1,NM_018171.3;APPL2,missense_variant,p.Gln353His,ENST00000539978,NM_001251905.1;APPL2,missense_variant,p.Gln402His,ENST00000551662,;APPL2,downstream_gene_variant,,ENST00000549573,;APPL2,upstream_gene_variant,,ENST00000552945,;APPL2,3_prime_UTR_variant,,ENST00000547439,;APPL2,non_coding_transcript_exon_variant,,ENST00000547809,;APPL2,downstream_gene_variant,,ENST00000549974,;							MODERATE	1188/1995	Q396H	DP13B_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000258530		CCDS9101.1			1	
SASH1	0	LGGM	GRCh37	6	148852788	148852788	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	34	13	.	.	ENST00000367467.3:c.1555A>G	p.Ser519Gly	p.S519G	ENST00000367467	NM_015278.3	519	Agc/Ggc	0	1	1	UPI00003519AE	0	NA	ENST00000367467		ENSG00000111961	19182		47	2.56		HGNC	p.S519G		SASH1		SNV							ENST00000367467	protein_coding	getma.org/?cm=var&var=hg19,6,148852788,A,G&fts=all		Pfam_domain:PF12485,hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF3,Low_complexity_(Seg):seg		S/G		G	medium	2030/7711		getma.org/?cm=msa&ty=f&p=SASH1_HUMAN&rb=399&re=555&var=S519G	tolerated(0.07)				YES	SASH1,missense_variant,p.Ser519Gly,ENST00000367467,NM_015278.3;							MODERATE	1555/3744	S519G	SASH1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000356437		CCDS5212.1			1	
FBXO5	0	LGGM	GRCh37	6	153293585	153293585	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	37	13	.	.	ENST00000229758.3:c.914A>G	p.Asn305Ser	p.N305S	ENST00000229758	NM_012177.3	305	aAc/aGc	0	1	1	UPI000012A585	0	NA	ENST00000229758		ENSG00000112029	13584		50	0.55		HGNC	p.N259S		FBXO5		SNV							ENST00000367241	protein_coding	getma.org/?cm=var&var=hg19,6,153293585,T,C&fts=all		hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF8,Gene3D:1.20.1280.50		N/S		C	neutral	973/2037		getma.org/?cm=msa&ty=f&p=FBX5_HUMAN&rb=294&re=447&var=N305S	tolerated(0.53)				YES	FBXO5,missense_variant,p.Asn259Ser,ENST00000367241,NM_001142522.1;FBXO5,missense_variant,p.Asn305Ser,ENST00000229758,NM_012177.3;FBXO5,non_coding_transcript_exon_variant,,ENST00000477822,;							MODERATE	914/1344	N305S	FBX5_HUMAN			Transcript		benign(0.005)	.	ENSP00000229758		CCDS5242.1			1	
PELI3	0	LGGM	GRCh37	11	66243110	66243110	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	37	13	.	.	ENST00000320740.7:c.882C>T	p.Ile294=	p.I294=	ENST00000320740	NM_145065.2	294	atC/atT	0	1	1	UPI00000707EF	0		ENST00000320740		ENSG00000174516	30010		50			HGNC	p.I270I		PELI3		SNV							ENST00000349459	protein_coding			hmmpanther:PTHR12098,hmmpanther:PTHR12098:SF6,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886		I		T		1042/2740				H0YEM6_HUMAN,E9PQX6_HUMAN,E9PI91_HUMAN			YES	PELI3,synonymous_variant,p.=,ENST00000349459,NM_001098510.1;PELI3,synonymous_variant,p.=,ENST00000320740,NM_145065.2,NM_001243136.1;PELI3,synonymous_variant,p.=,ENST00000526296,;PELI3,3_prime_UTR_variant,,ENST00000528752,;DPP3,upstream_gene_variant,,ENST00000532677,NM_130443.3,NM_005700.4,NM_001256670.1;DPP3,upstream_gene_variant,,ENST00000531863,;DPP3,upstream_gene_variant,,ENST00000360510,;DPP3,upstream_gene_variant,,ENST00000453114,;DPP3,upstream_gene_variant,,ENST00000541961,;DPP3,upstream_gene_variant,,ENST00000530165,;PELI3,downstream_gene_variant,,ENST00000524466,;DPP3,upstream_gene_variant,,ENST00000533725,;DPP3,upstream_gene_variant,,ENST00000532019,;DPP3,upstream_gene_variant,,ENST00000526515,;PELI3,downstream_gene_variant,,ENST00000527230,;CTD-3074O7.5,intron_variant,,ENST00000527092,;CTD-3074O7.5,intron_variant,,ENST00000533502,;CTD-3074O7.5,downstream_gene_variant,,ENST00000527274,;CTD-3074O7.5,downstream_gene_variant,,ENST00000525142,;CTD-3074O7.5,upstream_gene_variant,,ENST00000602951,;PELI3,intron_variant,,ENST00000531856,;DPP3,upstream_gene_variant,,ENST00000531272,;DPP3,upstream_gene_variant,,ENST00000544603,;PELI3,3_prime_UTR_variant,,ENST00000532970,;							LOW	882/1410		PELI3_HUMAN			Transcript			.	ENSP00000322532		CCDS31615.1			1	
MAGEL2	0	LGGM	GRCh37	15	23890493	23890493	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	32	13	.	.	ENST00000532292.1:c.588C>T	p.Ala196=	p.A196=	ENST00000532292	NM_019066.4	196	gcC/gcT	0	1	1	UPI00005A89F6	0		ENST00000532292		ENSG00000254585	6814		45			HGNC	p.A196A		MAGEL2		SNV			1				ENST00000532292	protein_coding			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66		A		A		683/2485				Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN			YES	MAGEL2,synonymous_variant,p.=,ENST00000532292,NM_019066.4;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;							LOW	588/1941					Transcript			.	ENSP00000433433					1	
MICU3	0	LGGM	GRCh37	8	16961992	16961992	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	56	14	.	.	ENST00000318063.5:c.1077T>C	p.Asp359=	p.D359=	ENST00000318063	NM_181723.2	359	gaT/gaC	0	1	1	UPI000000DAE7	0		ENST00000318063		ENSG00000155970	27820		70			HGNC	p.D359D		MICU3		SNV							ENST00000318063	protein_coding			hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF10,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Superfamily_domains:SSF47473		D		C		1119/3992							YES	MICU3,synonymous_variant,p.=,ENST00000318063,NM_181723.2;MICU3,synonymous_variant,p.=,ENST00000519044,;MICU3,non_coding_transcript_exon_variant,,ENST00000519866,;							LOW	1077/1593		MICU3_HUMAN			Transcript			.	ENSP00000321455		CCDS5999.1			1	
PCDHGB1	0	LGGM	GRCh37	5	140730011	140730011	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	24	14	.	.	ENST00000523390.1:c.184C>T	p.Arg62Ter	p.R62*	ENST00000523390	NM_018922.2	62	Cga/Tga	0	1	1	UPI0000073588	0	NA	ENST00000523390		ENSG00000254221	8708		38	0		HGNC	p.R62X		PCDHGB1		SNV							ENST00000523390	protein_coding	getma.org/?cm=var&var=hg19,5,140730011,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/*		T	NA	184/4590		NA		Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB1,stop_gained,p.Arg62Ter,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;							HIGH	184/2784	R62*	PCDGD_HUMAN			Transcript			.	ENSP00000429273		CCDS54923.1			1	
PIK3CD	0	LGGM	GRCh37	1	9781629	9781629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	27	15	.	.	ENST00000377346.4:c.1939C>A	p.Leu647Ile	p.L647I	ENST00000377346	NM_005026.3	647	Ctt/Att	0	1	1	UPI000013E807	0	getma.org/pdb.php?prot=PK3CD_HUMAN&from=499&to=684&var=L647I	ENST00000377346		ENSG00000171608	8977		42	2.935		HGNC	p.L647I		PIK3CD		SNV			1				ENST00000377346	protein_coding	getma.org/?cm=var&var=hg19,1,9781629,C,A&fts=all		PROSITE_profiles:PS51545,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:1.25.40.70,SMART_domains:SM00145,Superfamily_domains:SSF48371		L/I		A	medium	2134/5203		getma.org/?cm=msa&ty=f&p=PK3CD_HUMAN&rb=499&re=684&var=L647I	deleterious(0.01)	B7ZM44_HUMAN			YES	PIK3CD,missense_variant,p.Leu671Ile,ENST00000536656,;PIK3CD,missense_variant,p.Leu647Ile,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Leu671Ile,ENST00000361110,;PIK3CD,missense_variant,p.Leu314Ile,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;							MODERATE	1939/3135	L647I	PK3CD_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366563		CCDS104.1			1	
TPTE	0	LGGM	GRCh37	21	10906980	10906980	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	148	15	.	.	ENST00000361285.4:c.1581T>G	p.Tyr527Ter	p.Y527*	ENST00000361285	NM_199261.2	527	taT/taG	0	1	1	UPI000016A18A	0	NA	ENST00000361285		ENSG00000166157	12023		163	0		HGNC	p.Y509X		TPTE		SNV							ENST00000298232	protein_coding	getma.org/?cm=var&var=hg19,21,10906980,A,C&fts=all		Gene3D:1d5rA02,Pfam_domain:PF10409,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,Superfamily_domains:SSF49562		Y/*		C	NA	1911/2150		NA					YES	TPTE,stop_gained,p.Tyr509Ter,ENST00000298232,NM_199259.2;TPTE,stop_gained,p.Tyr527Ter,ENST00000361285,NM_199261.2;TPTE,stop_gained,p.Tyr489Ter,ENST00000342420,NM_199260.2;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;							HIGH	1581/1656	Y527*	TPTE_HUMAN			Transcript			.	ENSP00000355208		CCDS13560.2			1	
PLEKHA7	0	LGGM	GRCh37	11	16892714	16892714	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	45	15	.	.	ENST00000355661.3:c.237C>T	p.Thr79=	p.T79=	ENST00000355661		79	acC/acT	0	1	1	UPI0000456498	0		ENST00000355661		ENSG00000166689	27049		60			HGNC	p.T79T		PLEKHA7		SNV							ENST00000531066	protein_coding			Superfamily_domains:SSF51045,SMART_domains:SM00456,Gene3D:2.20.70.10,hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752,PROSITE_profiles:PS50020		T		A		248/4980				E9PL74_HUMAN,E9PIK1_HUMAN			YES	PLEKHA7,synonymous_variant,p.=,ENST00000355661,;PLEKHA7,synonymous_variant,p.=,ENST00000448080,NM_175058.4;PLEKHA7,synonymous_variant,p.=,ENST00000531066,;PLEKHA7,5_prime_UTR_variant,,ENST00000528376,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000528637,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000529213,;							LOW	237/3366		PKHA7_HUMAN			Transcript			.	ENSP00000347883		CCDS31434.1			1	
EPPK1	0	LGGM	GRCh37	8	144942455	144942455	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	39	15	.	.	ENST00000525985.1:c.4967A>G	p.Tyr1656Cys	p.Y1656C	ENST00000525985	NM_031308.2	1656	tAt/tGt	0	1	1	UPI00006C0DF1	0	getma.org/pdb.php?prot=EPIPL_HUMAN&from=1647&to=1677&var=Y1656C	ENST00000525985		ENSG00000227184	15577		54	2.28		HGNC	p.Y1656C	rs782333111	EPPK1	6.06E-05	SNV							ENST00000525985	protein_coding	getma.org/?cm=var&var=hg19,8,144942455,T,C&fts=all		Gene3D:3.90.1290.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399		Y/C		C	medium	5039/7997		getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=1647&re=1677&var=Y1656C		E9PPU0_HUMAN			YES	EPPK1,missense_variant,p.Tyr1656Cys,ENST00000525985,NM_031308.2;							MODERATE	4967/7263	Y1656C				Transcript		probably_damaging(0.95)	.	ENSP00000436337	8.28E-06				1	
COL5A1	0	LGGM	GRCh37	9	137653779	137653779	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	31	15	.	.	ENST00000371817.3:c.1944T>C	p.Pro648=	p.P648=	ENST00000371817	NM_001278074.1	648	ccT/ccC	0	1	1	UPI0000210EE3	0		ENST00000371817		ENSG00000130635	2209		46			HGNC	p.P648P	rs755661291	COL5A1		SNV			1				ENST00000371817	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023		P		C		2358/8468	1.51E-05			Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN			YES	COL5A1,synonymous_variant,p.=,ENST00000371817,NM_001278074.1,NM_000093.4;							LOW	1944/5517		CO5A1_HUMAN			Transcript			.	ENSP00000360882	8.24E-06	CCDS6982.1			1	
NAV3	0	LGGM	GRCh37	12	78515920	78515920	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	43	16	.	.	ENST00000536525.2:c.3950A>T	p.Asp1317Val	p.D1317V	ENST00000536525	NM_014903.4	1317	gAc/gTc	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		59	1.525		HGNC	p.D1317V		NAV3		SNV							ENST00000536525	protein_coding	getma.org/?cm=var&var=hg19,12,78515920,A,T&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		D/V		T	low	4123/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=670&re=1929&var=D1317V	deleterious(0)	F8VZV4_HUMAN				NAV3,missense_variant,p.Asp1317Val,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Asp1317Val,ENST00000228327,;NAV3,missense_variant,p.Asp1317Val,ENST00000536525,NM_014903.4;NAV3,intron_variant,,ENST00000266692,;NAV3,intron_variant,,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;							MODERATE	3950/7158	D1317V	NAV3_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000381007		CCDS66432.1			1	
MYOM2	0	LGGM	GRCh37	8	2092883	2092883	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	25	17	.	.	ENST00000262113.4:c.4376C>G	p.Ser1459Cys	p.S1459C	ENST00000262113	NM_003970.2	1459	tCt/tGt	0	1	1	UPI000013D260	0	NA	ENST00000262113		ENSG00000036448	7614		42	0		HGNC	p.S884C		MYOM2		SNV							ENST00000523438	protein_coding	getma.org/?cm=var&var=hg19,8,2092883,C,G&fts=all				S/C		G	neutral	4517/5014		getma.org/?cm=msa&ty=f&p=MYOM2_HUMAN&rb=1436&re=1465&var=S1459C	deleterious_low_confidence(0)	E7EWH9_HUMAN			YES	MYOM2,missense_variant,p.Ser1459Cys,ENST00000262113,NM_003970.2;MYOM2,missense_variant,p.Ser884Cys,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,;							MODERATE	4376/4398	S1459C	MYOM2_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000262113		CCDS5957.1			1	
CAPN5	0	LGGM	GRCh37	11	76834821	76834821	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	50	17	.	.	ENST00000278559.3:c.1828C>T	p.Leu610Phe	p.L610F	ENST00000278559	NM_004055.4	610	Ctc/Ttc	0	1	1	UPI0000126E9F	0	NA	ENST00000278559		ENSG00000149260	1482		67	2.645		HGNC	p.L650F		CAPN5		SNV			1				ENST00000456580	protein_coding	getma.org/?cm=var&var=hg19,11,76834821,C,T&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150		L/F		T	medium	2017/4397		getma.org/?cm=msa&ty=f&p=CAN5_HUMAN&rb=518&re=619&var=L610F	deleterious(0.03)	E9PS73_HUMAN			YES	CAPN5,missense_variant,p.Leu610Phe,ENST00000278559,NM_004055.4;CAPN5,missense_variant,p.Leu650Phe,ENST00000456580,;CAPN5,missense_variant,p.Leu610Phe,ENST00000529629,;CAPN5,3_prime_UTR_variant,,ENST00000531028,;MYO7A,upstream_gene_variant,,ENST00000409709,NM_000260.3;MYO7A,upstream_gene_variant,,ENST00000458637,NM_001127180.1;MYO7A,upstream_gene_variant,,ENST00000409619,;MYO7A,upstream_gene_variant,,ENST00000409893,NM_001127179.2;CAPN5,non_coding_transcript_exon_variant,,ENST00000527129,;							MODERATE	1828/1923	L610F	CAN5_HUMAN			Transcript		benign(0.03)	.	ENSP00000278559		CCDS8248.1			1	
KNG1	0	LGGM	GRCh37	3	186450317	186450317	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	43	17	.	.	ENST00000265023.4:c.784A>G	p.Lys262Glu	p.K262E	ENST00000265023	NM_001102416.2	262	Aag/Gag	0	1	1	UPI000013D5AC	0	NA	ENST00000265023		ENSG00000113889	6383		60	1.32		HGNC	p.K262E		KNG1		SNV			1				ENST00000265023	protein_coding	getma.org/?cm=var&var=hg19,3,186450317,A,G&fts=all		Gene3D:3.10.450.10,hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9		K/E		G	low	996/3435		getma.org/?cm=msa&ty=f&p=KNG1_HUMAN&rb=259&re=380&var=K262E	tolerated(0.28)				YES	KNG1,missense_variant,p.Lys262Glu,ENST00000265023,NM_001102416.2;KNG1,missense_variant,p.Lys262Glu,ENST00000287611,NM_000893.3;KNG1,missense_variant,p.Lys226Glu,ENST00000447445,NM_001166451.1;RP11-573D15.8,intron_variant,,ENST00000599314,;RP11-573D15.8,downstream_gene_variant,,ENST00000354642,;							MODERATE	784/1935	K262E	KNG1_HUMAN			Transcript		benign(0.009)	.	ENSP00000265023		CCDS43183.1			1	
UTS2	0	LGGM	GRCh37	1	7910966	7910966	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	40	18	.	.	ENST00000054668.5:c.165G>A	p.Ala55=	p.A55=	ENST00000054668	NM_021995.2	55	gcG/gcA	0	1		UPI0000137D55	0		ENST00000361696		ENSG00000049247	12636	0.000346	58			HGNC	p.A40A	rs759501467,COSM2156708,COSM2156709,COSM2156710	UTS2		SNV						0,1,1,1	ENST00000361696	protein_coding			hmmpanther:PTHR14447,hmmpanther:PTHR14447:SF0		A		T		152/551	1.50E-05							UTS2,synonymous_variant,p.=,ENST00000377516,;UTS2,synonymous_variant,p.=,ENST00000361696,NM_006786.3;UTS2,synonymous_variant,p.=,ENST00000054668,NM_021995.2;	0.000116				0,1,1,1		LOW	120/375		UTS2_HUMAN			Transcript			.	ENSP00000355163	4.94E-05	CCDS91.1			1	
ATP6AP2	0	LGGM	GRCh37	X	40458860	40458860	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	15	19	.	.	ENST00000378438.4:c.605A>G	p.His202Arg	p.H202R	ENST00000378438	NM_005765.2	202	cAt/cGt	0	1	1	UPI000006EC3F	0	NA	ENST00000378438		ENSG00000182220	18305		34	1.995		HGNC	p.H202R		ATP6AP2		SNV			1				ENST00000378438	protein_coding	getma.org/?cm=var&var=hg19,X,40458860,A,G&fts=all		hmmpanther:PTHR13351		H/R		G	medium	763/2093		getma.org/?cm=msa&ty=f&p=RENR_HUMAN&rb=201&re=252&var=H202R	tolerated(0.06)	B7Z413_HUMAN			YES	ATP6AP2,missense_variant,p.His202Arg,ENST00000378438,NM_005765.2;ATP6AP2,missense_variant,p.His170Arg,ENST00000535539,;ATP6AP2,missense_variant,p.His126Arg,ENST00000544975,;ATP6AP2,missense_variant,p.His124Arg,ENST00000535777,;ATP6AP2,missense_variant,p.His177Arg,ENST00000447485,;ATP6AP2,missense_variant,p.His143Arg,ENST00000423649,;ATP6AP2,missense_variant,p.His202Arg,ENST00000436783,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000486558,;ATP6AP2,downstream_gene_variant,,ENST00000479120,;							MODERATE	605/1053	H202R	RENR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000367697		CCDS14252.1			1	
ACSM5	0	LGGM	GRCh37	16	20435337	20435337	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	24	19	.	.	ENST00000331849.4:c.867A>G	p.Gly289=	p.G289=	ENST00000331849	NM_017888.2	289	ggA/ggG	0	1	1	UPI00001FEFB3	0		ENST00000331849		ENSG00000183549	26060		43			HGNC	p.G76G		ACSM5		SNV							ENST00000573920	protein_coding			Superfamily_domains:SSF56801,Pfam_domain:PF00501,Gene3D:3.40.50.980,hmmpanther:PTHR24095:SF105,hmmpanther:PTHR24095		G		G		1014/2796							YES	ACSM5,synonymous_variant,p.=,ENST00000331849,NM_017888.2;ACSM5,downstream_gene_variant,,ENST00000575584,;ACSM5,synonymous_variant,p.=,ENST00000573920,;ACSM5,non_coding_transcript_exon_variant,,ENST00000570305,;ACSM5,intron_variant,,ENST00000574748,;							LOW	867/1740		ACSM5_HUMAN			Transcript			.	ENSP00000327916		CCDS10585.1			1	
ZNF788	0	LGGM	GRCh37	19	12223570	12223570	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	45	19	.	.	ENST00000339302.4:c.1208A>T	p.Asn403Ile	p.N403I	ENST00000339302		403	aAt/aTt	0	1	1	UPI000041AACA	0		ENST00000339302		ENSG00000188474	33112		64			Uniprot_gn	p.N22I		ZNF788		SNV							ENST00000397759	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF13,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/I		T		1845/3766			deleterious(0.05)				YES	ZNF788,missense_variant,p.Asn403Ile,ENST00000339302,;ZNF788,missense_variant,p.Asn22Ile,ENST00000397759,;ZNF788,3_prime_UTR_variant,,ENST00000430298,;ZNF20,intron_variant,,ENST00000600335,;ZNF788,downstream_gene_variant,,ENST00000596883,;ZNF788,intron_variant,,ENST00000601686,;							MODERATE	1208/1848		ZN788_HUMAN			Transcript		benign(0.08)	.	ENSP00000342021					1	
NEDD1	0	LGGM	GRCh37	12	97328842	97328842	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	136	19	.	.	ENST00000557644.1:c.599A>G	p.Asn200Ser	p.N200S	ENST00000557644	NM_001135175.1	200	aAt/aGt	0	1		UPI000004F17B	0	getma.org/pdb.php?prot=NEDD1_HUMAN&from=148&to=321&var=N193S	ENST00000266742		ENSG00000139350	7723		155	1.58		HGNC	p.N193S	rs775949319	NEDD1		SNV							ENST00000429527	protein_coding	getma.org/?cm=var&var=hg19,12,97328842,A,G&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		N/S		G	low	917/3620	1.50E-05	getma.org/?cm=msa&ty=f&p=NEDD1_HUMAN&rb=148&re=321&var=N193S	deleterious(0.04)	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V2M9_HUMAN				NEDD1,missense_variant,p.Asn193Ser,ENST00000266742,NM_152905.3;NEDD1,missense_variant,p.Asn193Ser,ENST00000429527,NM_001135176.1;NEDD1,missense_variant,p.Asn104Ser,ENST00000457368,;NEDD1,missense_variant,p.Asn104Ser,ENST00000411739,NM_001135177.1;NEDD1,missense_variant,p.Asn200Ser,ENST00000557644,NM_001135175.1;NEDD1,missense_variant,p.Asn104Ser,ENST00000553609,;NEDD1,downstream_gene_variant,,ENST00000557478,;NEDD1,non_coding_transcript_exon_variant,,ENST00000555114,;NEDD1,non_coding_transcript_exon_variant,,ENST00000557454,;NEDD1,intron_variant,,ENST00000555806,;							MODERATE	578/1983	N193S	NEDD1_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000266742	1.65E-05	CCDS9063.1	0.0011		1	
TP53	0	LGGM	GRCh37	17	7578394	7578394	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	9	19	.	.	ENST00000269305.4:c.536A>T	p.His179Leu	p.H179L	ENST00000269305	NM_001126112.2	179	cAt/cTt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H179L	ENST00000269305		ENSG00000141510	11998		28	3.315		HGNC	p.H179L	TP53_g.12524A>T,COSM43635,COSM129844,COSM129845,COSM129847,COSM3980298,COSM1731642,COSM129846	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578394,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		H/L		A	medium	726/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H179L	tolerated(0.12)	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			YES	TP53,missense_variant,p.His179Leu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His179Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His179Leu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His179Leu,ENST00000445888,;TP53,missense_variant,p.His179Leu,ENST00000359597,;TP53,missense_variant,p.His179Leu,ENST00000413465,;TP53,missense_variant,p.His47Leu,ENST00000509690,;TP53,missense_variant,p.His86Leu,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,;					0,1,1,1,1,1,1,1		MODERATE	536/1182	H179L	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
POU5F1B	0	LGGM	GRCh37	8	128428446	128428446	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	55	20	.	.	ENST00000465342.2:c.335C>T	p.Pro112Leu	p.P112L	ENST00000465342		112	cCg/cTg	0	1	1	UPI000013F18B	0	NA	ENST00000465342		ENSG00000212993	9223		75	1.155		HGNC	p.P112L		POU5F1B		SNV							ENST00000465342	protein_coding	getma.org/?cm=var&var=hg19,8,128428446,C,T&fts=all		hmmpanther:PTHR11636:SF15,hmmpanther:PTHR11636		P/L		T	low	1492/5357		getma.org/?cm=msa&ty=f&p=P5F1B_HUMAN&rb=103&re=137&var=P112L	tolerated(0.17)	D5K9T1_HUMAN			YES	POU5F1B,missense_variant,p.Pro112Leu,ENST00000465342,;POU5F1B,missense_variant,p.Pro112Leu,ENST00000391675,NM_001159542.1;CASC8,intron_variant,,ENST00000502082,;CASC8,intron_variant,,ENST00000501396,;CASC8,intron_variant,,ENST00000523825,;							MODERATE	335/1080	P112L	P5F1B_HUMAN			Transcript		benign(0.056)	.	ENSP00000419298		CCDS55274.1			1	
PRMT5	0	LGGM	GRCh37	14	23397379	23397379	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	52	20	.	.	ENST00000324366.8:c.271C>T	p.Arg91Cys	p.R91C	ENST00000324366	NM_006109.3	91	Cgt/Tgt	0	1	1	UPI000006F09F	0	getma.org/pdb.php?prot=ANM5_HUMAN&from=1&to=180&var=R91C	ENST00000324366		ENSG00000100462	10894		72	0		HGNC	p.R101C	rs765221574	PRMT5		SNV							ENST00000421938	protein_coding	getma.org/?cm=var&var=hg19,14,23397379,G,A&fts=all		PIRSF_domain:PIRSF015894,hmmpanther:PTHR10738		R/C		A	neutral	495/2531	1.50E-05	getma.org/?cm=msa&ty=f&p=ANM5_HUMAN&rb=1&re=180&var=R91C	deleterious(0)	G3V5T6_HUMAN,G3V5L5_HUMAN,B4DV00_HUMAN			YES	PRMT5,missense_variant,p.Arg91Cys,ENST00000324366,NM_006109.3;PRMT5,missense_variant,p.Arg74Cys,ENST00000397441,NM_001039619.1;PRMT5,missense_variant,p.Arg74Cys,ENST00000397440,NM_001282956.1;PRMT5,missense_variant,p.Arg91Cys,ENST00000553550,;PRMT5,missense_variant,p.Arg49Cys,ENST00000554910,;PRMT5,missense_variant,p.Arg53Cys,ENST00000556616,;PRMT5,missense_variant,p.Arg101Cys,ENST00000421938,;PRMT5,missense_variant,p.Arg91Cys,ENST00000554867,;PRMT5,5_prime_UTR_variant,,ENST00000538452,;PRMT5,intron_variant,,ENST00000216350,NM_001282953.1;PRMT5,intron_variant,,ENST00000553897,NM_001282955.1;PRMT5,upstream_gene_variant,,ENST00000555530,;PRMT5,upstream_gene_variant,,ENST00000555454,;PRMT5,upstream_gene_variant,,ENST00000556043,;PRMT5,upstream_gene_variant,,ENST00000553502,;PRMT5-AS1,downstream_gene_variant,,ENST00000424245,;PRMT5-AS1,downstream_gene_variant,,ENST00000609885,;PRMT5-AS1,downstream_gene_variant,,ENST00000599580,;PRMT5-AS1,downstream_gene_variant,,ENST00000457443,;PRMT5-AS1,downstream_gene_variant,,ENST00000587245,;PRMT5-AS1,downstream_gene_variant,,ENST00000590290,;PRMT5-AS1,downstream_gene_variant,,ENST00000595662,;RP11-298I3.1,upstream_gene_variant,,ENST00000548322,;RP11-298I3.1,upstream_gene_variant,,ENST00000548819,;PRMT5,non_coding_transcript_exon_variant,,ENST00000553641,;PRMT5,non_coding_transcript_exon_variant,,ENST00000554716,;PRMT5,downstream_gene_variant,,ENST00000556426,;PRMT5,missense_variant,p.Ser34Leu,ENST00000553915,;PRMT5,missense_variant,p.Ser51Leu,ENST00000557415,;PRMT5,non_coding_transcript_exon_variant,,ENST00000556032,;PRMT5,non_coding_transcript_exon_variant,,ENST00000557015,;PRMT5,intron_variant,,ENST00000553787,;PRMT5,upstream_gene_variant,,ENST00000553417,;							MODERATE	271/1914	R91C	ANM5_HUMAN			Transcript		benign(0.003)	.	ENSP00000319169	8.24E-06	CCDS9579.1			1	
ARF4	0	LGGM	GRCh37	3	57561306	57561306	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	51	21	.	.	ENST00000303436.6:c.425A>C	p.Lys142Thr	p.K142T	ENST00000303436	NM_001660.3	142	aAa/aCa	0	1	1	UPI000013E89E	0	getma.org/pdb.php?prot=ARF4_HUMAN&from=5&to=177&var=K142T	ENST00000303436		ENSG00000168374	655		72	2.22		HGNC	p.K142T		ARF4		SNV							ENST00000303436	protein_coding	getma.org/?cm=var&var=hg19,3,57561306,T,G&fts=all		PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF110,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178,SMART_domains:SM00175,Superfamily_domains:SSF52540		K/T		G	medium	693/1660		getma.org/?cm=msa&ty=f&p=ARF4_HUMAN&rb=5&re=177&var=K142T	tolerated_low_confidence(0.05)	U3KQF2_HUMAN,C9JPM4_HUMAN,C9J6P1_HUMAN			YES	ARF4,missense_variant,p.Lys142Thr,ENST00000303436,NM_001660.3;ARF4,missense_variant,p.Lys115Thr,ENST00000496292,;ARF4,missense_variant,p.Lys33Thr,ENST00000489843,;ARF4,downstream_gene_variant,,ENST00000463880,;ARF4,non_coding_transcript_exon_variant,,ENST00000483848,;ARF4,3_prime_UTR_variant,,ENST00000486310,;							MODERATE	425/543	K142T	ARF4_HUMAN			Transcript		possibly_damaging(0.52)	.	ENSP00000306010		CCDS2884.1			1	
SZT2	0	LGGM	GRCh37	1	43892996	43892996	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	49	22	.	.	ENST00000562955.1:c.3307G>T	p.Glu1103Ter	p.E1103*	ENST00000562955	NM_015284.3	1103	Gag/Tag	0	1	1	UPI0001E24F46	0	NA	ENST00000562955		ENSG00000198198	29040		71	0		HGNC	p.E261X		SZT2		SNV			1				ENST00000372442	protein_coding	getma.org/?cm=var&var=hg19,1,43892996,G,T&fts=all		hmmpanther:PTHR14918		E/*		T	NA	3307/12281		NA					YES	SZT2,stop_gained,p.Glu1103Ter,ENST00000562955,NM_015284.3;SZT2,stop_gained,p.Glu261Ter,ENST00000372442,;SZT2,non_coding_transcript_exon_variant,,ENST00000470139,;SZT2,upstream_gene_variant,,ENST00000478140,;							HIGH	3307/10128	E1160*	SZT2_HUMAN			Transcript			.	ENSP00000457168		CCDS30694.2			1	
ARID1A	0	LGGM	GRCh37	1	27100917	27100917	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	33	23	.	.	ENST00000324856.7:c.4199C>G	p.Pro1400Arg	p.P1400R	ENST00000324856	NM_006015.4	1400	cCt/cGt	0	1	1	UPI0000167B91	0	NA	ENST00000324856		ENSG00000117713	11110		56	1.15		HGNC	p.P1017R		ARID1A		SNV			1				ENST00000374152	protein_coding	getma.org/?cm=var&var=hg19,1,27100917,C,G&fts=all		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Low_complexity_(Seg):seg		P/R		G	low	4570/8577		getma.org/?cm=msa&ty=f&p=ARI1A_HUMAN&rb=1305&re=1504&var=P1400R		Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,missense_variant,p.Pro1400Arg,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Pro1017Arg,ENST00000374152,;ARID1A,missense_variant,p.Pro297Arg,ENST00000430799,;ARID1A,intron_variant,,ENST00000457599,NM_139135.2;ARID1A,intron_variant,,ENST00000540690,;ARID1A,intron_variant,,ENST00000466382,;ARID1A,upstream_gene_variant,,ENST00000532781,;							MODERATE	4199/6858	P1400R	ARI1A_HUMAN			Transcript		unknown(0)	.	ENSP00000320485		CCDS285.1			1	
LEKR1	0	LGGM	GRCh37	3	156742587	156742587	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	61	23	.	.	ENST00000356539.4:c.1242G>A	p.Leu414=	p.L414=	ENST00000356539	NM_001004316.2	414	ttG/ttA	0	1	1	UPI0000425F3D	0		ENST00000470811		ENSG00000197980	33765		84			HGNC	p.L110L		LEKR1		SNV							ENST00000470811	protein_coding					L		A		1665/2881								LEKR1,synonymous_variant,p.=,ENST00000470811,;LEKR1,synonymous_variant,p.=,ENST00000356539,NM_001004316.2;							LOW	330/1167		LEKR1_HUMAN			Transcript			.	ENSP00000418214					1	
TTC17	0	LGGM	GRCh37	11	43429012	43429012	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	47	24	.	.	ENST00000039989.4:c.1949C>A	p.Pro650Gln	p.P650Q	ENST00000039989	NM_018259.5	650	cCa/cAa	0	1	1	UPI000006E6C7	0	NA	ENST00000039989		ENSG00000052841	25596		71	2.31		HGNC	p.P650Q		TTC17		SNV							ENST00000039989	protein_coding	getma.org/?cm=var&var=hg19,11,43429012,C,A&fts=all		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR16091,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		P/Q		A	medium	1963/4469		getma.org/?cm=msa&ty=f&p=TTC17_HUMAN&rb=529&re=651&var=P650Q	deleterious(0.05)				YES	TTC17,missense_variant,p.Pro650Gln,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Pro650Gln,ENST00000299240,;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;TTC17,downstream_gene_variant,,ENST00000530483,;							MODERATE	1949/3426	P650Q	TTC17_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000039989		CCDS31466.1			1	
ZNF184	0	LGGM	GRCh37	6	27419952	27419952	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	47	24	.	.	ENST00000211936.6:c.1386T>G	p.Ala462=	p.A462=	ENST00000211936	NM_007149.2	462	gcT/gcG	0	1	1	UPI000013C311	0		ENST00000211936		ENSG00000096654	12975		71			HGNC	p.A462A		ZNF184		SNV							ENST00000377419	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF108,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A		C		1671/3101							YES	ZNF184,synonymous_variant,p.=,ENST00000211936,NM_007149.2;ZNF184,synonymous_variant,p.=,ENST00000377419,;							LOW	1386/2256		ZN184_HUMAN			Transcript			.	ENSP00000211936		CCDS4624.1			1	
SEC14L2	0	LGGM	GRCh37	22	30805435	30805435	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	42	24	.	.	ENST00000312932.9:c.540A>C	p.Glu180Asp	p.E180D	ENST00000312932	NM_012429.3	180	gaA/gaC	0	1	1	UPI0000135433	0	getma.org/pdb.php?prot=S14L2_HUMAN&from=78&to=244&var=E180D	ENST00000312932		ENSG00000100003	10699		66	-0.735		HGNC	p.E97D		SEC14L2		SNV							ENST00000402592	protein_coding	getma.org/?cm=var&var=hg19,22,30805435,A,C&fts=all		PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF64,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087		E/D		C	neutral	800/4381		getma.org/?cm=msa&ty=f&p=S14L2_HUMAN&rb=78&re=244&var=E180D	tolerated(0.56)	C9JZI9_HUMAN,B7Z3Z8_HUMAN			YES	SEC14L2,missense_variant,p.Glu180Asp,ENST00000312932,NM_012429.3;SEC14L2,missense_variant,p.Glu106Asp,ENST00000403484,;SEC14L2,missense_variant,p.Glu180Asp,ENST00000405717,NM_033382.2;RP4-539M6.19,missense_variant,p.Glu14Asp,ENST00000439838,;SEC14L2,missense_variant,p.Glu97Asp,ENST00000402592,NM_001204204.1;SEC14L2,missense_variant,p.Glu126Asp,ENST00000428195,;RP4-539M6.19,missense_variant,p.Glu14Asp,ENST00000439023,;RNF215,intron_variant,,ENST00000431544,;SEC14L2,downstream_gene_variant,,ENST00000429917,;SEC14L2,downstream_gene_variant,,ENST00000415072,;SEC14L2,downstream_gene_variant,,ENST00000459728,;SEC14L2,downstream_gene_variant,,ENST00000416523,;RP4-539M6.19,missense_variant,p.Glu17Asp,ENST00000454552,;SEC14L2,3_prime_UTR_variant,,ENST00000452649,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000467218,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000478762,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000464335,;SEC14L2,non_coding_transcript_exon_variant,,ENST00000483116,;SEC14L2,downstream_gene_variant,,ENST00000437022,;							MODERATE	540/1212	E180D	S14L2_HUMAN			Transcript		benign(0.007)	.	ENSP00000316203		CCDS13876.1			1	
DIS3L2	0	LGGM	GRCh37	2	233128025	233128025	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	53	25	.	.	ENST00000325385.7:c.1534G>T	p.Glu512Ter	p.E512*	ENST00000325385	NM_152383.4	512	Gag/Tag	0	1	1	UPI000004BF03	0	NA	ENST00000325385		ENSG00000144535	28648		78	0		HGNC	p.E512X		DIS3L2		SNV			1				ENST00000273009	protein_coding	getma.org/?cm=var&var=hg19,2,233128025,G,T&fts=all		HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Pfam_domain:PF00773,SMART_domains:SM00955,Superfamily_domains:SSF50249		E/*		T	NA	1810/3501		NA		H7C440_HUMAN,C9JGP4_HUMAN			YES	DIS3L2,stop_gained,p.Glu512Ter,ENST00000325385,NM_152383.4;DIS3L2,stop_gained,p.Glu512Ter,ENST00000273009,NM_001257281.1;DIS3L2,stop_gained,p.Glu512Ter,ENST00000409307,;DIS3L2,stop_gained,p.Glu147Ter,ENST00000424049,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000498319,;DIS3L2,stop_gained,p.Glu512Ter,ENST00000390005,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;DIS3L2,3_prime_UTR_variant,,ENST00000445090,;							HIGH	1534/2658	E512*	DI3L2_HUMAN			Transcript			.	ENSP00000315569		CCDS42834.1			1	
ZNF644	0	LGGM	GRCh37	1	91406646	91406646	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	74	26	.	.	ENST00000370440.1:c.265G>A	p.Gly89Arg	p.G89R	ENST00000370440		89	Gga/Aga	0	1		UPI000004A010	0	NA	ENST00000337393		ENSG00000122482	29222		100	0.55		HGNC	p.G89R		ZNF644		SNV			1				ENST00000370440	protein_coding	getma.org/?cm=var&var=hg19,1,91406646,C,T&fts=all		hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402		G/R		T	neutral	506/5683		getma.org/?cm=msa&ty=f&p=ZN644_HUMAN&rb=1&re=395&var=G89R	tolerated(0.07)	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN				ZNF644,missense_variant,p.Gly89Arg,ENST00000370440,;ZNF644,missense_variant,p.Gly89Arg,ENST00000337393,NM_201269.2;ZNF644,intron_variant,,ENST00000347275,NM_016620.3;ZNF644,intron_variant,,ENST00000361321,NM_032186.4;ZNF644,non_coding_transcript_exon_variant,,ENST00000498303,;ZNF644,intron_variant,,ENST00000467231,;							MODERATE	265/3984	G89R	ZN644_HUMAN			Transcript		benign(0.38)	.	ENSP00000337008		CCDS731.1			1	
DHX32	0	LGGM	GRCh37	10	127548390	127548390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	53	26	.	.	ENST00000284690.3:c.631C>A	p.Leu211Met	p.L211M	ENST00000284690	NM_018180.2	211	Ctg/Atg	0	1	1	UPI00000467F4	0	getma.org/pdb.php?prot=DHX32_HUMAN&from=72&to=238&var=L211M	ENST00000284690		ENSG00000089876	16717		79	3.21		HGNC	p.L211M		DHX32		SNV							ENST00000284688	protein_coding	getma.org/?cm=var&var=hg19,10,127548390,G,T&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		L/M		T	medium	1122/3070		getma.org/?cm=msa&ty=f&p=DHX32_HUMAN&rb=72&re=238&var=L211M	deleterious(0.02)				YES	DHX32,missense_variant,p.Leu211Met,ENST00000284690,NM_018180.2;DHX32,missense_variant,p.Leu211Met,ENST00000284688,;DHX32,upstream_gene_variant,,ENST00000368721,;							MODERATE	631/2232	L211M	DHX32_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000284690		CCDS7652.1			1	
BIRC6	0	LGGM	GRCh37	2	32666523	32666523	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	72	28	.	.	ENST00000421745.2:c.3937A>G	p.Lys1313Glu	p.K1313E	ENST00000421745	NM_016252.3	1313	Aag/Gag	0	1	1	UPI0001611442	0	NA	ENST00000421745		ENSG00000115760	13516		100	1.39		HGNC	p.K1313E		BIRC6		SNV							ENST00000421745	protein_coding	getma.org/?cm=var&var=hg19,2,32666523,A,G&fts=all		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93		K/E		G	low	4071/15703		getma.org/?cm=msa&ty=f&p=BIRC6_HUMAN&rb=868&re=2325&var=K1313E					YES	BIRC6,missense_variant,p.Lys1313Glu,ENST00000421745,NM_016252.3;BIRC6,downstream_gene_variant,,ENST00000444173,;BIRC6,intron_variant,,ENST00000431454,;BIRC6,upstream_gene_variant,,ENST00000483194,;							MODERATE	3937/14574	K1313E	BIRC6_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000393596		CCDS33175.2			1	
TIPARP	0	LGGM	GRCh37	3	156395663	156395663	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	78	28	.	.	ENST00000461166.1:c.177A>G	p.Ile59Met	p.I59M	ENST00000461166	NM_001184717.1	59	atA/atG	0	1		UPI000004FA31	0	NA	ENST00000295924		ENSG00000163659	23696		106	0.895		HGNC	p.I59M		TIPARP		SNV							ENST00000461166	protein_coding	getma.org/?cm=var&var=hg19,3,156395663,A,G&fts=all		hmmpanther:PTHR14453:SF13,hmmpanther:PTHR14453		I/M		G	low	673/4109		getma.org/?cm=msa&ty=f&p=PARPT_HUMAN&rb=1&re=227&var=I59M	deleterious_low_confidence(0.01)	G5E9W1_HUMAN,C9JXM5_HUMAN				TIPARP,missense_variant,p.Ile59Met,ENST00000461166,NM_001184717.1;TIPARP,missense_variant,p.Ile59Met,ENST00000295924,NM_015508.4;TIPARP,missense_variant,p.Ile59Met,ENST00000542783,NM_001184718.1;TIPARP,missense_variant,p.Ile59Met,ENST00000486483,;TIPARP,missense_variant,p.Ile59Met,ENST00000481853,;TIPARP,missense_variant,p.Ile59Met,ENST00000473702,;TIPARP,upstream_gene_variant,,ENST00000495891,;TIPARP-AS1,upstream_gene_variant,,ENST00000478005,;TIPARP-AS1,upstream_gene_variant,,ENST00000492937,;							MODERATE	177/1974	I59M	PARPT_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000295924		CCDS3177.1			1	
BLTP1	0	LGGM	GRCh37	4	123140551	123140551	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	92	28	.	.	ENST00000264501.4:c.2304T>C	p.Ser768=	p.S768=	ENST00000264501		768	agT/agC	0	1	1	UPI0000DD87B4	0		ENST00000264501		ENSG00000138688	26953		120			HGNC	p.S768S		KIAA1109		SNV							ENST00000455637	protein_coding			hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1,Low_complexity_(Seg):seg		S		C		2677/15896				B3KN93_HUMAN			YES	KIAA1109,synonymous_variant,p.=,ENST00000264501,;KIAA1109,synonymous_variant,p.=,ENST00000388738,NM_015312.3;KIAA1109,synonymous_variant,p.=,ENST00000455637,;KIAA1109,synonymous_variant,p.=,ENST00000424425,;KIAA1109,upstream_gene_variant,,ENST00000449251,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000482114,;							LOW	2304/15018		K1109_HUMAN			Transcript			.	ENSP00000264501		CCDS43267.1			1	
PFKFB4	0	LGGM	GRCh37	3	48573737	48573737	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	51	30	.	.	ENST00000232375.3:c.792C>T	p.Leu264=	p.L264=	ENST00000232375	NM_004567.2	264	ctC/ctT	0	1	1	UPI0000000DCB	0		ENST00000232375		ENSG00000114268	8875		81			HGNC	p.L253L		PFKFB4		SNV							ENST00000536104	protein_coding			hmmpanther:PTHR10606:SF14,hmmpanther:PTHR10606,Pfam_domain:PF00300,Gene3D:3.40.50.1240,PIRSF_domain:PIRSF000709,SMART_domains:SM00855,Superfamily_domains:SSF53254,Prints_domain:PR00991		L		A		905/3586				Q64EX5_HUMAN,Q5XLC3_HUMAN,C9JX77_HUMAN			YES	PFKFB4,synonymous_variant,p.=,ENST00000232375,NM_004567.2;PFKFB4,synonymous_variant,p.=,ENST00000541519,;PFKFB4,synonymous_variant,p.=,ENST00000536104,;PFKFB4,synonymous_variant,p.=,ENST00000416568,;PFKFB4,synonymous_variant,p.=,ENST00000383734,;PFKFB4,synonymous_variant,p.=,ENST00000452531,;PFKFB4,3_prime_UTR_variant,,ENST00000545984,;PFKFB4,downstream_gene_variant,,ENST00000412035,;PFKFB4,non_coding_transcript_exon_variant,,ENST00000490115,;PFKFB4,downstream_gene_variant,,ENST00000496767,;PFKFB4,downstream_gene_variant,,ENST00000468162,;PFKFB4,3_prime_UTR_variant,,ENST00000417753,;PFKFB4,3_prime_UTR_variant,,ENST00000445633,;PFKFB4,downstream_gene_variant,,ENST00000471890,;							LOW	792/1410		F264_HUMAN			Transcript			.	ENSP00000232375		CCDS2771.1			1	
UBE2D2	0	LGGM	GRCh37	5	138994546	138994546	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	49	30	.	.	ENST00000398733.3:c.299C>T	p.Ser100Leu	p.S100L	ENST00000398733	NM_003339.2	100	tCa/tTa	0	1	1	UPI0000006BD0	0	getma.org/pdb.php?prot=UB2D2_HUMAN&from=5&to=142&var=S100L	ENST00000398733		ENSG00000131508	12475		79	1.84		HGNC	p.S100L		UBE2D2		SNV							ENST00000398734	protein_coding	getma.org/?cm=var&var=hg19,5,138994546,C,T&fts=all		PROSITE_profiles:PS50127,hmmpanther:PTHR24068:SF48,hmmpanther:PTHR24068,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495		S/L		T	low	925/2702		getma.org/?cm=msa&ty=f&p=UB2D2_HUMAN&rb=5&re=142&var=S100L	deleterious_low_confidence(0.02)	D6RFM0_HUMAN,D6RAW0_HUMAN			YES	UBE2D2,missense_variant,p.Ser71Leu,ENST00000253815,NM_181838.1;UBE2D2,missense_variant,p.Ser100Leu,ENST00000398733,NM_003339.2;UBE2D2,missense_variant,p.Ser71Leu,ENST00000505007,;UBE2D2,missense_variant,p.Ser71Leu,ENST00000505548,;UBE2D2,missense_variant,p.Ser71Leu,ENST00000511725,;UBE2D2,missense_variant,p.Ser100Leu,ENST00000398734,;UBE2D2,non_coding_transcript_exon_variant,,ENST00000511691,;UBE2D2,downstream_gene_variant,,ENST00000510470,;							MODERATE	299/444	S100L	UB2D2_HUMAN			Transcript		benign(0.141)	.	ENSP00000381717		CCDS43369.1			1	
LGALS2	0	LGGM	GRCh37	22	37966720	37966720	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	68	31	.	.	ENST00000215886.4:c.112G>C	p.Gly38Arg	p.G38R	ENST00000215886	NM_006498.2	38	Ggg/Cgg	0	1	1	UPI00000012CF	0	getma.org/pdb.php?prot=LEG2_HUMAN&from=3&to=130&var=G38R	ENST00000215886		ENSG00000100079	6562		99	2.495		HGNC	p.G38R		LGALS2		SNV							ENST00000215886	protein_coding	getma.org/?cm=var&var=hg19,22,37966720,C,G&fts=all		PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF97,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899		G/R		G	medium	287/589		getma.org/?cm=msa&ty=f&p=LEG2_HUMAN&rb=3&re=130&var=G38R	tolerated(0.06)	Q6PIT8_HUMAN,B0QYC9_HUMAN			YES	LGALS2,missense_variant,p.Gly38Arg,ENST00000215886,NM_006498.2;CDC42EP1,downstream_gene_variant,,ENST00000249014,NM_152243.2;CDC42EP1,downstream_gene_variant,,ENST00000430687,;CDC42EP1,downstream_gene_variant,,ENST00000415670,;CDC42EP1,downstream_gene_variant,,ENST00000434728,;LGALS2,downstream_gene_variant,,ENST00000416480,;							MODERATE	112/399	G38R	LEG2_HUMAN			Transcript		benign(0.197)	.	ENSP00000215886		CCDS13950.1			1	
PZP	0	LGGM	GRCh37	12	9309880	9309880	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	53	31	.	.	ENST00000261336.2:c.3441G>T	p.Gly1147=	p.G1147=	ENST00000261336	NM_002864.2	1147	ggG/ggT	0	1	1	UPI000013D168	0		ENST00000261336		ENSG00000126838	9750		84			HGNC	p.G933G		PZP		SNV							ENST00000381997	protein_coding			Gene3D:1.50.10.20,Pfam_domain:PF07678,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87,Superfamily_domains:SSF48239		G		A		3470/4610							YES	PZP,synonymous_variant,p.=,ENST00000261336,NM_002864.2;PZP,synonymous_variant,p.=,ENST00000381997,;PZP,downstream_gene_variant,,ENST00000539983,;PZP,downstream_gene_variant,,ENST00000546197,;PZP,3_prime_UTR_variant,,ENST00000535230,;TPT1P12,upstream_gene_variant,,ENST00000448968,;							LOW	3441/4449		PZP_HUMAN			Transcript			.	ENSP00000261336		CCDS8600.1			1	
ZNF341	0	LGGM	GRCh37	20	32369179	32369179	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	64	33	.	.	ENST00000342427.2:c.1684C>G	p.Pro562Ala	p.P562A	ENST00000342427	NM_032819.3	562	Cca/Gca	0	1		UPI0000470A07	0	NA	ENST00000375200		ENSG00000131061	15992		97	0.915		HGNC	p.P569A		ZNF341		SNV							ENST00000375200	protein_coding	getma.org/?cm=var&var=hg19,20,32369179,C,G&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,SMART_domains:SM00355,Superfamily_domains:SSF57667		P/A		G	low	2070/3682		getma.org/?cm=msa&ty=f&p=ZN341_HUMAN&rb=546&re=609&var=P569A	deleterious(0.01)					ZNF341,missense_variant,p.Pro569Ala,ENST00000375200,NM_001282933.1;ZNF341,missense_variant,p.Pro562Ala,ENST00000342427,NM_032819.3;ZNF341,3_prime_UTR_variant,,ENST00000497876,NM_001282935.1;ZNF341,intron_variant,,ENST00000483118,;							MODERATE	1705/2565	P569A	ZN341_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000364346					1	
SUPT5H	0	LGGM	GRCh37	19	39948323	39948323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	25	34	.	.	ENST00000599117.1:c.250G>A	p.Asp84Asn	p.D84N	ENST00000599117		84	Gat/Aat	0	1		UPI000006D81A	0	NA	ENST00000432763		ENSG00000196235	11469		59	1.75		HGNC	p.D84N		SUPT5H		SNV							ENST00000598725	protein_coding	getma.org/?cm=var&var=hg19,19,39948323,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11125,Pfam_domain:PF11942,PIRSF_domain:PIRSF036945		D/N		A	low	429/3710		getma.org/?cm=msa&ty=f&p=SPT5H_HUMAN&rb=75&re=172&var=D84N	deleterious(0.01)	M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN				SUPT5H,missense_variant,p.Asp84Asn,ENST00000599117,;SUPT5H,missense_variant,p.Asp84Asn,ENST00000359191,;SUPT5H,missense_variant,p.Asp84Asn,ENST00000598725,NM_003169.3;SUPT5H,missense_variant,p.Asp84Asn,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,missense_variant,p.Asp84Asn,ENST00000402194,NM_001130825.1;SUPT5H,missense_variant,p.Asp84Asn,ENST00000601515,;SUPT5H,missense_variant,p.Asp84Asn,ENST00000594729,;SUPT5H,downstream_gene_variant,,ENST00000594990,;SUPT5H,upstream_gene_variant,,ENST00000593727,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000595368,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000598459,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000601978,;SUPT5H,upstream_gene_variant,,ENST00000599907,;SUPT5H,upstream_gene_variant,,ENST00000598786,;							MODERATE	250/3264	D84N	SPT5H_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000404029		CCDS12536.1			1	
SAMD9	0	LGGM	GRCh37	7	92732090	92732090	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	70	35	.	.	ENST00000379958.2:c.3321A>G	p.Lys1107=	p.K1107=	ENST00000379958	NM_017654.3	1107	aaA/aaG	0	1	1	UPI0000038BC6	0		ENST00000379958		ENSG00000205413	1348		105			HGNC	p.K1107K		SAMD9		SNV			1				ENST00000379958	protein_coding			hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155		K		C		3591/6852				C9JKF1_HUMAN			YES	SAMD9,synonymous_variant,p.=,ENST00000379958,NM_017654.3,NM_001193307.1;SAMD9,synonymous_variant,p.=,ENST00000446617,;							LOW	3321/4770		SAMD9_HUMAN			Transcript			.	ENSP00000369292		CCDS34680.1			1	
LEPREL1	0	LGGM	GRCh37	3	189704577	189704577	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	85	37	.	.	ENST00000319332.5:c.1188G>A	p.Pro396=	p.P396=	ENST00000319332	NM_018192.3	396	ccG/ccA	0	1	1	UPI000007460B	0		ENST00000319332		ENSG00000090530	19317		122			HGNC	p.P215P	rs749183285	LEPREL1		SNV			1				ENST00000427335	protein_coding			hmmpanther:PTHR14049,hmmpanther:PTHR14049:SF1		P		T		1386/3509	1.50E-05			D3DNV8_HUMAN,C9JSL4_HUMAN,C9J313_HUMAN			YES	LEPREL1,splice_region_variant,p.=,ENST00000319332,NM_018192.3;LEPREL1,splice_region_variant,p.=,ENST00000427335,NM_001134418.1;LEPREL1,downstream_gene_variant,,ENST00000426003,;LEPREL1,downstream_gene_variant,,ENST00000444866,;LEPREL1,splice_region_variant,,ENST00000470925,;LEPREL1,upstream_gene_variant,,ENST00000475095,;	0.000116						LOW	1188/2127		P3H2_HUMAN			Transcript			.	ENSP00000316881	1.65E-05	CCDS3294.1			1	
MANSC4	0	LGGM	GRCh37	12	27916222	27916222	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	97	37	.	.	ENST00000381273.3:c.472G>C	p.Asp158His	p.D158H	ENST00000381273	NM_001146221.1	158	Gat/Cat	0	1	1	UPI00019912E6	0	NA	ENST00000381273		ENSG00000205693	40023		134	0.805		HGNC	p.D158H		MANSC4		SNV							ENST00000381273	protein_coding	getma.org/?cm=var&var=hg19,12,27916222,C,G&fts=all		hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF10		D/H		G	low	472/1023		getma.org/?cm=msa&ty=f&p=MANS4_HUMAN&rb=1&re=200&var=D158H	deleterious(0.02)				YES	MANSC4,missense_variant,p.Asp158His,ENST00000381273,NM_001146221.1;							MODERATE	472/1023	D158H	MANS4_HUMAN			Transcript		possibly_damaging(0.79)	.	ENSP00000370673		CCDS53770.1			1	
TBX18	0	LGGM	GRCh37	6	85446762	85446762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	58	39	.	.	ENST00000369663.5:c.1465A>G	p.Ile489Val	p.I489V	ENST00000369663	NM_001080508.2	489	Att/Gtt	0	1	1	UPI00001A3A8A	0	NA	ENST00000369663		ENSG00000112837	11595		97	0.695		HGNC	p.I489V		TBX18		SNV							ENST00000369663	protein_coding	getma.org/?cm=var&var=hg19,6,85446762,T,C&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF20		I/V		C	neutral	1803/6245		getma.org/?cm=msa&ty=f&p=TBX18_HUMAN&rb=332&re=531&var=I489V	tolerated(0.47)	U3KQQ9_HUMAN,U3KQ31_HUMAN			YES	TBX18,missense_variant,p.Ile489Val,ENST00000369663,NM_001080508.2;TBX18,intron_variant,,ENST00000606784,;TBX18,downstream_gene_variant,,ENST00000606521,;TBX18,downstream_gene_variant,,ENST00000607343,;							MODERATE	1465/1824	I489V	TBX18_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000358677		CCDS34495.1			1	
USO1	0	LGGM	GRCh37	4	76711928	76711928	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	78	41	.	.	ENST00000538159.1:c.1224A>G	p.Thr408=	p.T408=	ENST00000538159		408	acA/acG	0	1		UPI00015E07C9	0		ENST00000514213		ENSG00000138768	30904		119			HGNC	p.T408T		USO1		SNV							ENST00000538159	protein_coding			Pfam_domain:PF04869,hmmpanther:PTHR10013		T		G		1173/2844				S4R3X6_HUMAN,F5H4X1_HUMAN				USO1,synonymous_variant,p.=,ENST00000264904,NM_003715.2;USO1,synonymous_variant,p.=,ENST00000538159,;USO1,synonymous_variant,p.=,ENST00000441296,;USO1,synonymous_variant,p.=,ENST00000514213,;							LOW	1173/2844					Transcript			.	ENSP00000444850					1	
DRD3	0	LGGM	GRCh37	3	113858494	113858494	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	101	43	.	.	ENST00000383673.2:c.576T>A	p.Ser192=	p.S192=	ENST00000383673	NM_000796.3	192	tcT/tcA	0	1		UPI000013E2C2	0		ENST00000460779		ENSG00000151577	3024		144			HGNC	p.S192S		DRD3		SNV			1				ENST00000295881	protein_coding			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		S		T		866/1557								DRD3,synonymous_variant,p.=,ENST00000383673,NM_000796.3;DRD3,synonymous_variant,p.=,ENST00000460779,NM_001282563.1;DRD3,synonymous_variant,p.=,ENST00000467632,;DRD3,synonymous_variant,p.=,ENST00000295881,NM_033663.3;							LOW	576/1203		DRD3_HUMAN			Transcript			.	ENSP00000419402		CCDS2978.1			1	
CDH13	0	LGGM	GRCh37	16	83704420	83704420	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	52	46	.	.	ENST00000268613.10:c.1268C>T	p.Ala423Val	p.A423V	ENST00000268613		423	gCt/gTt	0	1	1	UPI00020E71A6	0	getma.org/pdb.php?prot=CAD13_HUMAN&from=368&to=469&var=A376V	ENST00000268613		ENSG00000140945	1753		98	1.165		HGNC	p.A337V		CDH13		SNV							ENST00000428848	protein_coding	getma.org/?cm=var&var=hg19,16,83704420,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF80,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313		A/V		T	low	1361/2722		getma.org/?cm=msa&ty=f&p=CAD13_HUMAN&rb=368&re=469&var=A376V	tolerated(0.28)				YES	CDH13,missense_variant,p.Ala376Val,ENST00000566620,NM_001257.4,NM_001220490.1,NM_001220489.1,NM_001220488.1;CDH13,missense_variant,p.Ala423Val,ENST00000268613,;CDH13,missense_variant,p.Ala337Val,ENST00000428848,;CDH13,non_coding_transcript_exon_variant,,ENST00000562307,;CDH13,3_prime_UTR_variant,,ENST00000539548,;							MODERATE	1268/2283	A376V	CAD13_HUMAN			Transcript		benign(0.004)	.	ENSP00000268613		CCDS58485.1			1	
SF3B1	0	LGGM	GRCh37	2	198285799	198285799	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	98	47	.	.	ENST00000335508.6:c.254A>G	p.His85Arg	p.H85R	ENST00000335508	NM_012433.2	85	cAt/cGt	0	1	1	UPI000013D493	0	NA	ENST00000335508		ENSG00000115524	10768		145	1.04		HGNC	p.H85R		SF3B1		SNV			1				ENST00000335508	protein_coding	getma.org/?cm=var&var=hg19,2,198285799,T,C&fts=all		hmmpanther:PTHR12097		H/R		C	low	346/6526		getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=1&re=200&var=H85R	tolerated(0.06)	Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,missense_variant,p.His85Arg,ENST00000335508,NM_012433.2;SF3B1,missense_variant,p.His85Arg,ENST00000487698,;SF3B1,missense_variant,p.His85Arg,ENST00000414963,NM_001005526.1;SF3B1,missense_variant,p.His85Arg,ENST00000409915,;SF3B1,3_prime_UTR_variant,,ENST00000414174,;SF3B1,upstream_gene_variant,,ENST00000470268,;SF3B1,upstream_gene_variant,,ENST00000482158,;							MODERATE	254/3915	H85R	SF3B1_HUMAN			Transcript		benign(0.021)	.	ENSP00000335321		CCDS33356.1			1	
NEU3	0	LGGM	GRCh37	11	74705741	74705741	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	109	55	.	.	ENST00000294064.4:c.282G>A	p.Gly94=	p.G94=	ENST00000294064	NM_006656.5	94	ggG/ggA	0	1	1	UPI000015F481	0		ENST00000294064		ENSG00000162139	7760		164			HGNC	p.G61G		NEU3		SNV							ENST00000544263	protein_coding			Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF7,Superfamily_domains:SSF50939		G		A		1209/3519				B4E0V4_HUMAN,A8K327_HUMAN			YES	NEU3,synonymous_variant,p.=,ENST00000294064,NM_006656.5;NEU3,synonymous_variant,p.=,ENST00000531509,;NEU3,synonymous_variant,p.=,ENST00000544263,;NEU3,synonymous_variant,p.=,ENST00000534628,;NEU3,synonymous_variant,p.=,ENST00000531619,;NEU3,intron_variant,,ENST00000532963,;NEU3,intron_variant,,ENST00000545272,;NEU3,intron_variant,,ENST00000529024,;NEU3,downstream_gene_variant,,ENST00000526068,;							LOW	282/1386					Transcript			.	ENSP00000294064		CCDS44682.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20185867	20185867	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H071904	H071904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	38	64	.	.	ENST00000379565.3:c.1444-2A>T		p.X482_splice	ENST00000379565	NM_004586.2			0	1	1	UPI000012DB2E	0		ENST00000379565		ENSG00000177189	10432		102			HGNC	-		RPS6KA3		SNV			1				ENST00000379565	protein_coding							A		-/7918				Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,splice_acceptor_variant,,ENST00000379565,NM_004586.2;RPS6KA3,splice_acceptor_variant,,ENST00000544447,;RPS6KA3,splice_acceptor_variant,,ENST00000540702,;RPS6KA3,splice_acceptor_variant,,ENST00000379548,;RPS6KA3,splice_acceptor_variant,,ENST00000479809,;							HIGH	1444/2223		KS6A3_HUMAN			Transcript			.	ENSP00000368884		CCDS14197.1			1	
ZNF638	0	LGGM	GRCh37	2	71631036	71631036	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071904	H071904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	115	66	.	.	ENST00000409544.1:c.2866A>G	p.Met956Val	p.M956V	ENST00000409544	NM_001252612.1	956	Atg/Gtg	0	1		UPI000013D51B	0	getma.org/pdb.php?prot=ZN638_HUMAN&from=905&to=979&var=M956V	ENST00000264447		ENSG00000075292	17894		181	2.025		HGNC	p.M956V		ZNF638		SNV							ENST00000264447	protein_coding	getma.org/?cm=var&var=hg19,2,71631036,A,G&fts=all		hmmpanther:PTHR15592,hmmpanther:PTHR15592:SF1,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		M/V		G	medium	3180/6505		getma.org/?cm=msa&ty=f&p=ZN638_HUMAN&rb=905&re=979&var=M956V	deleterious(0.04)	Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN				ZNF638,missense_variant,p.Met956Val,ENST00000409544,NM_001252612.1;ZNF638,missense_variant,p.Met956Val,ENST00000264447,NM_001014972.2,NM_014497.4,NM_001252613.1;ZNF638,missense_variant,p.Met956Val,ENST00000355812,;ZNF638,upstream_gene_variant,,ENST00000409407,;ZNF638,non_coding_transcript_exon_variant,,ENST00000487638,;ZNF638,non_coding_transcript_exon_variant,,ENST00000494241,;							MODERATE	2866/5937	M956V	ZN638_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000264447		CCDS1917.1			1	
ZCCHC2	0	LGGM	GRCh37	18	60241937	60241937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071904	H071904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	142	71	.	.	ENST00000269499.5:c.2623G>T	p.Val875Leu	p.V875L	ENST00000269499	NM_017742.4	875	Gtg/Ttg	0	1	1	UPI00016D385A	0	NA	ENST00000269499		ENSG00000141664	22916		213	0.895		HGNC	p.V875L	rs759593914	ZCCHC2	6.06E-05	SNV							ENST00000269499	protein_coding	getma.org/?cm=var&var=hg19,18,60241937,G,T&fts=all		hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13		V/L		T	low	3041/5959		getma.org/?cm=msa&ty=f&p=ZCHC2_HUMAN&rb=801&re=1000&var=V875L	deleterious_low_confidence(0.04)	K7ERQ9_HUMAN,B2RPG6_HUMAN			YES	ZCCHC2,missense_variant,p.Val875Leu,ENST00000269499,NM_017742.4;ZCCHC2,missense_variant,p.Val554Leu,ENST00000586834,;ZCCHC2,intron_variant,,ENST00000587612,;ZCCHC2,missense_variant,p.Val795Leu,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;ZCCHC2,upstream_gene_variant,,ENST00000591145,;							MODERATE	2623/3537	V875L	ZCHC2_HUMAN			Transcript		benign(0.016)	.	ENSP00000269499	8.26E-06	CCDS45880.1			1	
NBPF10	0	LGGM	GRCh37	1	145299876	145299876	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071904	H071904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071904N.bam, H071904T.bam	Illumina HiSeq	477	94	.	.	ENST00000342960.5:c.925C>T	p.Leu309Phe	p.L309F	ENST00000342960	NM_001039703.5	309	Ctc/Ttc	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		571	2.07		HGNC	p.L38F		NBPF10		SNV							ENST00000369338	protein_coding	getma.org/?cm=var&var=hg19,1,145299876,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		L/F		T	medium	960/10697		getma.org/?cm=msa&ty=f&p=H7BY67_HUMAN&rb=1&re=200&var=L51F		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Leu309Phe,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Leu38Phe,ENST00000369338,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369339,;NBPF10,upstream_gene_variant,,ENST00000605176,;NBPF10,missense_variant,p.Leu309Phe,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;							MODERATE	925/10662	L51F				Transcript		possibly_damaging(0.863)	.	ENSP00000345684					1	
MLLT10	0	LGGM	GRCh37	10	22022457	22022457	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	8	2	.	.	ENST00000307729.7:c.2432G>A	p.Ser811Asn	p.S811N	ENST00000307729		811	aGc/aAc	0	1	1	UPI00001F8FF7	0	NA	ENST00000307729		ENSG00000078403	16063		10	0.55		HGNC	p.S827N		MLLT10		SNV			1				ENST00000377072	protein_coding	getma.org/?cm=var&var=hg19,10,22022457,G,A&fts=all		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF86		S/N		A	neutral	2610/5032		getma.org/?cm=msa&ty=f&p=AF10_HUMAN&rb=199&re=999&var=S827N	tolerated(0.19)	Q71UR7_HUMAN,B4DVS6_HUMAN			YES	MLLT10,missense_variant,p.Ser827Asn,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Ser811Asn,ENST00000446906,;MLLT10,missense_variant,p.Ser811Asn,ENST00000307729,;MLLT10,missense_variant,p.Ser811Asn,ENST00000377059,NM_001195626.1;MLLT10,downstream_gene_variant,,ENST00000438473,;							MODERATE	2432/3207	S827N	AF10_HUMAN			Transcript		benign(0.006)	.	ENSP00000307411		CCDS55708.1			1	
PTPRF	0	LGGM	GRCh37	1	44085456	44085456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	9	2	.	.	ENST00000359947.4:c.5038C>A	p.Arg1680Ser	p.R1680S	ENST00000359947	NM_002840.3	1680	Cgt/Agt	0	1	1	UPI0000470154	0	getma.org/pdb.php?prot=PTPRF_HUMAN&from=1664&to=1897&var=R1680S	ENST00000359947		ENSG00000142949	9670		11	4.52		HGNC	p.R1680S		PTPRF		SNV			1				ENST00000359947	protein_coding	getma.org/?cm=var&var=hg19,1,44085456,C,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF203,SMART_domains:SM00194,Superfamily_domains:SSF52799		R/S		A	high	5378/7727		getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=1664&re=1897&var=R1680S	deleterious(0)	G1UI20_HUMAN			YES	PTPRF,missense_variant,p.Arg1680Ser,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Arg1680Ser,ENST00000372414,;PTPRF,missense_variant,p.Arg1671Ser,ENST00000372413,;PTPRF,missense_variant,p.Arg1671Ser,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Arg1326Ser,ENST00000429895,;PTPRF,missense_variant,p.Arg1039Ser,ENST00000422171,;PTPRF,missense_variant,p.Arg1105Ser,ENST00000414879,;PTPRF,missense_variant,p.Arg752Ser,ENST00000372407,;PTPRF,missense_variant,p.Arg1064Ser,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,non_coding_transcript_exon_variant,,ENST00000477970,;							MODERATE	5038/5724	R1680S	PTPRF_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353030		CCDS489.2			1	
CYLC1	0	LGGM	GRCh37	X	83129212	83129212	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	10	2	.	.	ENST00000329312.4:c.1496C>G	p.Ser499Ter	p.S499*	ENST00000329312	NM_021118.2	499	tCa/tGa	0	1	1	UPI0000251E1D	0	NA	ENST00000329312		ENSG00000183035	2582		12	0		HGNC	p.S499X		CYLC1		SNV							ENST00000329312	protein_coding	getma.org/?cm=var&var=hg19,X,83129212,C,G&fts=all		hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1,Low_complexity_(Seg):seg		S/*		G	NA	1533/2106		NA					YES	CYLC1,stop_gained,p.Ser499Ter,ENST00000329312,NM_021118.2;							HIGH	1496/1956	S499*	CYLC1_HUMAN			Transcript			.	ENSP00000331556		CCDS35341.1			1	
NDUFAF7	0	LGGM	GRCh37	2	37458897	37458897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	6	2	.	.	ENST00000002125.4:c.49C>A	p.Arg17Ser	p.R17S	ENST00000002125	NM_144736.4	17	Cgc/Agc	0	1	1	UPI000004A041	0	NA	ENST00000002125		ENSG00000003509	28816		8	0.805		HGNC	p.R17S		NDUFAF7		SNV							ENST00000002125	protein_coding	getma.org/?cm=var&var=hg19,2,37458897,C,A&fts=all		hmmpanther:PTHR12049,hmmpanther:PTHR12049:SF5		R/S		A	low	89/2176		getma.org/?cm=msa&ty=f&p=MIDA_HUMAN&rb=1&re=99&var=R17S	tolerated_low_confidence(0.34)	C9JS27_HUMAN,C9JP36_HUMAN,C9JEL7_HUMAN,C9J236_HUMAN			YES	NDUFAF7,missense_variant,p.Arg17Ser,ENST00000002125,NM_144736.4;NDUFAF7,missense_variant,p.Arg17Ser,ENST00000336237,NM_001083946.1;NDUFAF7,5_prime_UTR_variant,,ENST00000431821,;CEBPZ,upstream_gene_variant,,ENST00000234170,NM_005760.2;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;CEBPZ,upstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,missense_variant,p.Arg17Ser,ENST00000455230,;NDUFAF7,non_coding_transcript_exon_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;							MODERATE	49/1326	R17S	NDUF7_HUMAN			Transcript		benign(0.039)	.	ENSP00000002125		CCDS1788.1			1	
CPNE7	0	LGGM	GRCh37	16	89651220	89651220	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	10	2	.	.	ENST00000268720.5:c.771C>A	p.Tyr257Ter	p.Y257*	ENST00000268720	NM_014427.4	257	taC/taA	0	1	1	UPI0000127C17	0	NA	ENST00000268720		ENSG00000178773	2320		12	0		HGNC	p.Y182X		CPNE7		SNV							ENST00000319518	protein_coding	getma.org/?cm=var&var=hg19,16,89651220,C,A&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF6,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		Y/*		A	NA	901/2657		NA					YES	CPNE7,stop_gained,p.Tyr257Ter,ENST00000268720,NM_014427.4;CPNE7,stop_gained,p.Tyr182Ter,ENST00000319518,NM_153636.2;CPNE7,upstream_gene_variant,,ENST00000529800,;CPNE7,upstream_gene_variant,,ENST00000568977,;CPNE7,downstream_gene_variant,,ENST00000525982,;CPNE7,upstream_gene_variant,,ENST00000532500,;							HIGH	771/1902	Y257*	CPNE7_HUMAN			Transcript			.	ENSP00000268720		CCDS10980.1			1	
C9orf16	0	LGGM	GRCh37	9	130925805	130925805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	7	2	.	.	ENST00000372994.1:c.163C>A	p.Arg55Ser	p.R55S	ENST00000372994	NM_024112.3	55	Cgc/Agc	0	1	1	UPI0000127982	0		ENST00000372994		ENSG00000171159	17823		9			HGNC	p.R55S		C9orf16		SNV							ENST00000372994	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03670		R/S		A		311/713			tolerated(0.07)				YES	C9orf16,missense_variant,p.Arg55Ser,ENST00000372994,NM_024112.3;CIZ1,downstream_gene_variant,,ENST00000538431,NM_001257975.1;CIZ1,downstream_gene_variant,,ENST00000393608,NM_012127.2;CIZ1,downstream_gene_variant,,ENST00000372938,NM_001131016.1;CIZ1,downstream_gene_variant,,ENST00000357558,NM_001131017.1;CIZ1,downstream_gene_variant,,ENST00000325721,;CIZ1,downstream_gene_variant,,ENST00000372948,NM_001131015.1;CIZ1,downstream_gene_variant,,ENST00000541172,NM_001257976.1;CIZ1,downstream_gene_variant,,ENST00000277465,;CIZ1,downstream_gene_variant,,ENST00000372954,NM_001131018.1;CIZ1,downstream_gene_variant,,ENST00000415526,;C9orf16,non_coding_transcript_exon_variant,,ENST00000492588,;C9orf16,non_coding_transcript_exon_variant,,ENST00000489240,;C9orf16,non_coding_transcript_exon_variant,,ENST00000486420,;CIZ1,downstream_gene_variant,,ENST00000476727,;CIZ1,downstream_gene_variant,,ENST00000471839,;CIZ1,downstream_gene_variant,,ENST00000485862,;CIZ1,downstream_gene_variant,,ENST00000471773,;CIZ1,downstream_gene_variant,,ENST00000461765,;CIZ1,downstream_gene_variant,,ENST00000485001,;CIZ1,downstream_gene_variant,,ENST00000491487,;							MODERATE	163/252		CI016_HUMAN			Transcript		benign(0.369)	.	ENSP00000362085		CCDS6893.1			1	
BIRC7	0	LGGM	GRCh37	20	61870832	61870832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	13	2	.	.	ENST00000217169.3:c.772C>A	p.Arg258Ser	p.R258S	ENST00000217169	NM_139317.2	258	Cgc/Agc	0	1	1	UPI00001269A6	0	getma.org/pdb.php?prot=BIRC7_HUMAN&from=248&to=292&var=R258S	ENST00000217169		ENSG00000101197	13702		15	0.94		HGNC	p.R258S		BIRC7		SNV							ENST00000217169	protein_coding	getma.org/?cm=var&var=hg19,20,61870832,C,A&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR10044,Gene3D:3.30.40.10,Pfam_domain:PF13920,SMART_domains:SM00184,Superfamily_domains:SSF57924		R/S		A	low	986/1368		getma.org/?cm=msa&ty=f&p=BIRC7_HUMAN&rb=248&re=292&var=R258S	deleterious(0)				YES	BIRC7,missense_variant,p.Arg258Ser,ENST00000217169,NM_139317.2;BIRC7,missense_variant,p.Arg240Ser,ENST00000342412,NM_022161.3;BIRC7,missense_variant,p.Arg153Ser,ENST00000395306,;NKAIN4,downstream_gene_variant,,ENST00000370316,NM_152864.3;NKAIN4,downstream_gene_variant,,ENST00000370313,;NKAIN4,downstream_gene_variant,,ENST00000370307,;NKAIN4,downstream_gene_variant,,ENST00000370317,;MIR3196,downstream_gene_variant,,ENST00000579556,;NKAIN4,downstream_gene_variant,,ENST00000466885,;NKAIN4,downstream_gene_variant,,ENST00000470246,;NKAIN4,downstream_gene_variant,,ENST00000486495,;NKAIN4,downstream_gene_variant,,ENST00000461738,;							MODERATE	772/897	R258S	BIRC7_HUMAN			Transcript		benign(0.229)	.	ENSP00000217169		CCDS13513.1			1	
EDA	0	LGGM	GRCh37	X	69176918	69176918	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	14	2	.	.	ENST00000374552.4:c.438C>A	p.Tyr146Ter	p.Y146*	ENST00000374552	NM_001399.4	146	taC/taA	0	1	1	UPI0000052244	0	NA	ENST00000374552		ENSG00000158813	3157		16	0		HGNC	p.Y146X		EDA		SNV			1				ENST00000374553	protein_coding	getma.org/?cm=var&var=hg19,X,69176918,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF62		Y/*		A	NA	680/5278		NA		D6RA95_HUMAN			YES	EDA,stop_gained,p.Tyr146Ter,ENST00000374552,NM_001399.4;EDA,stop_gained,p.Tyr146Ter,ENST00000374553,NM_001005609.1,NM_001005612.2;EDA,stop_gained,p.Tyr146Ter,ENST00000524573,;EDA,stop_gained,p.Tyr14Ter,ENST00000503592,;EDA,non_coding_transcript_exon_variant,,ENST00000502251,;EDA,non_coding_transcript_exon_variant,,ENST00000533317,;EDA,non_coding_transcript_exon_variant,,ENST00000374548,;							HIGH	438/1176	Y146*	EDA_HUMAN			Transcript			.	ENSP00000363680		CCDS14394.1			1	
UROC1	0	LGGM	GRCh37	3	126224688	126224688	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	11	3	.	.	ENST00000383579.3:c.670-1G>T		p.X224_splice	ENST00000383579	NM_001165974.1			0	1		UPI000012CEC2	0		ENST00000290868		ENSG00000159650	26444		14			HGNC	-		UROC1		SNV			1				ENST00000290868	protein_coding							A		-/3149								UROC1,splice_acceptor_variant,,ENST00000290868,NM_144639.2;UROC1,splice_acceptor_variant,,ENST00000383579,NM_001165974.1;							HIGH	670/2031		HUTU_HUMAN			Transcript			.	ENSP00000290868		CCDS3038.1			1	
ZNF215	0	LGGM	GRCh37	11	6977355	6977355	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	30	3	.	.	ENST00000278319.5:c.1147C>A	p.Gln383Lys	p.Q383K	ENST00000278319	NM_013250.2	383	Caa/Aaa	0	1	1	UPI000013DB6D	0	getma.org/pdb.php?prot=ZN215_HUMAN&from=367&to=388&var=Q383K	ENST00000278319		ENSG00000149054	13007		33	0.72		HGNC	p.Q383K		ZNF215		SNV							ENST00000278319	protein_coding	getma.org/?cm=var&var=hg19,11,6977355,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/K		A	neutral	1735/3448		getma.org/?cm=msa&ty=f&p=ZN215_HUMAN&rb=347&re=408&var=Q383K	deleterious(0.01)				YES	ZNF215,missense_variant,p.Gln383Lys,ENST00000278319,NM_013250.2;ZNF215,missense_variant,p.Gln383Lys,ENST00000414517,;ZNF215,intron_variant,,ENST00000529903,;ZNF215,intron_variant,,ENST00000532533,;ZNF215,downstream_gene_variant,,ENST00000527171,;ZNF215,downstream_gene_variant,,ENST00000529755,;							MODERATE	1147/1554	Q383K	ZN215_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000278319		CCDS7775.1			1	
RFC3	0	LGGM	GRCh37	13	34405447	34405447	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	23	3	.	.	ENST00000380071.3:c.765G>T	p.Leu255=	p.L255=	ENST00000380071	NM_002915.3	255	ctG/ctT	0	1	1	UPI0000125168	0		ENST00000380071		ENSG00000133119	9971		26			HGNC	p.L255L		RFC3		SNV							ENST00000434425	protein_coding			hmmpanther:PTHR11669,hmmpanther:PTHR11669:SF1,Pfam_domain:PF08542,Gene3D:1.20.272.10,Superfamily_domains:SSF48019		L		T		895/2402							YES	RFC3,synonymous_variant,p.=,ENST00000380071,NM_002915.3;RFC3,synonymous_variant,p.=,ENST00000434425,NM_181558.2;RNU5A-4P,upstream_gene_variant,,ENST00000516588,;							LOW	765/1071		RFC3_HUMAN			Transcript			.	ENSP00000369411		CCDS9352.1			1	
RBM5	0	LGGM	GRCh37	3	50153369	50153369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	34	3	.	.	ENST00000347869.3:c.2050C>A	p.Leu684Met	p.L684M	ENST00000347869	NM_005778.3	684	Ctg/Atg	0	1	1	UPI000013337C	0	NA	ENST00000347869		ENSG00000003756	9902		37	0.54		HGNC	p.L684M	rs767904124	RBM5	6.06E-05	SNV							ENST00000347869	protein_coding	getma.org/?cm=var&var=hg19,3,50153369,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21,Low_complexity_(Seg):seg		L/M		A	neutral	2225/3188		getma.org/?cm=msa&ty=f&p=RBM5_HUMAN&rb=509&re=708&var=L684M	tolerated(0.45)	C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN			YES	RBM5,missense_variant,p.Leu684Met,ENST00000347869,NM_005778.3;RP11-493K19.3,downstream_gene_variant,,ENST00000437204,;RP11-493K19.3,downstream_gene_variant,,ENST00000425674,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000479275,;RBM5,non_coding_transcript_exon_variant,,ENST00000475128,;RBM5,non_coding_transcript_exon_variant,,ENST00000464988,;RBM5,non_coding_transcript_exon_variant,,ENST00000475590,;RBM5,non_coding_transcript_exon_variant,,ENST00000492430,;RBM5,downstream_gene_variant,,ENST00000493993,;RBM5,upstream_gene_variant,,ENST00000461242,;							MODERATE	2050/2448	L684M	RBM5_HUMAN			Transcript		benign(0.015)	.	ENSP00000343054	8.24E-06	CCDS2810.1			1	
CDT1	0	LGGM	GRCh37	16	88871973	88871973	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	20	3	.	.	ENST00000301019.4:c.614G>A	p.Gly205Asp	p.G205D	ENST00000301019	NM_030928.3	205	gGc/gAc	0	1	1	UPI00001FF6B1	0	getma.org/pdb.php?prot=CDT1_HUMAN&from=186&to=350&var=G205D	ENST00000301019		ENSG00000167513	24576		23	2.08		HGNC	p.G205D	rs753832416	CDT1		SNV			1				ENST00000301019	protein_coding	getma.org/?cm=var&var=hg19,16,88871973,G,A&fts=all		Pfam_domain:PF08839,SMART_domains:SM01075,Superfamily_domains:SSF46785		G/D		A	medium	1233/3240	1.54E-05	getma.org/?cm=msa&ty=f&p=CDT1_HUMAN&rb=186&re=350&var=G205D	deleterious(0)				YES	CDT1,missense_variant,p.Gly205Asp,ENST00000301019,NM_030928.3;APRT,downstream_gene_variant,,ENST00000378364,NM_000485.2;APRT,downstream_gene_variant,,ENST00000569616,;APRT,downstream_gene_variant,,ENST00000563655,;APRT,downstream_gene_variant,,ENST00000426324,NM_001030018.1;CDT1,upstream_gene_variant,,ENST00000569140,;APRT,downstream_gene_variant,,ENST00000567713,;CDT1,non_coding_transcript_exon_variant,,ENST00000562747,;APRT,downstream_gene_variant,,ENST00000567391,;APRT,downstream_gene_variant,,ENST00000568319,;APRT,downstream_gene_variant,,ENST00000562464,;APRT,downstream_gene_variant,,ENST00000568575,;APRT,downstream_gene_variant,,ENST00000567057,;							MODERATE	614/1641	G205D	CDT1_HUMAN			Transcript		possibly_damaging(0.769)	.	ENSP00000301019	8.24E-06	CCDS32510.1			1	
NARS2	0	LGGM	GRCh37	11	78180338	78180338	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	23	3	.	.	ENST00000281038.5:c.981G>T	p.Val327=	p.V327=	ENST00000281038	NM_001243251.1	327	gtG/gtT	0	1	1	UPI000036680B	0		ENST00000281038		ENSG00000137513	26274		26			HGNC	p.V100V		NARS2		SNV							ENST00000528850	protein_coding			HAMAP:MF_00534,PROSITE_profiles:PS50862,hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF6,Gene3D:3.30.930.10,Pfam_domain:PF00152,TIGRFAM_domain:TIGR00457,Superfamily_domains:SSF55681		V		A		1357/2519				G3V178_HUMAN			YES	NARS2,synonymous_variant,p.=,ENST00000281038,NM_001243251.1,NM_024678.5;NARS2,synonymous_variant,p.=,ENST00000528850,;NARS2,intron_variant,,ENST00000529880,;NARS2,3_prime_UTR_variant,,ENST00000525345,;							LOW	981/1434		SYNM_HUMAN			Transcript			.	ENSP00000281038		CCDS8261.1			1	
COBLL1	0	LGGM	GRCh37	2	165586604	165586604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	39	3	.	.	ENST00000342193.4:c.252G>T	p.Leu84Phe	p.L84F	ENST00000342193	NM_014900.4	84	ttG/ttT	0	1		UPI0000E82591	0	NA	ENST00000392717		ENSG00000082438	23571		42	2.625		HGNC	p.L129F	COSM1201737	COBLL1		SNV						1	ENST00000445474	protein_coding	getma.org/?cm=var&var=hg19,2,165586604,C,A&fts=all		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2		L/F		A	medium	371/4749		getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=53&re=406&var=L122F	deleterious(0)	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN				COBLL1,missense_variant,p.Leu84Phe,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Leu84Phe,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Leu122Phe,ENST00000392717,;COBLL1,missense_variant,p.Leu122Phe,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Leu137Phe,ENST00000194871,NM_001278458.1;COBLL1,missense_variant,p.Leu87Phe,ENST00000452626,;COBLL1,missense_variant,p.Leu59Phe,ENST00000456693,;COBLL1,missense_variant,p.Leu106Phe,ENST00000444537,;COBLL1,missense_variant,p.Leu129Phe,ENST00000445474,;COBLL1,missense_variant,p.Leu84Phe,ENST00000414843,;COBLL1,missense_variant,p.Leu91Phe,ENST00000439313,;COBLL1,missense_variant,p.Leu84Phe,ENST00000448708,;COBLL1,intron_variant,,ENST00000491126,;COBLL1,intron_variant,,ENST00000434366,;COBLL1,missense_variant,p.Leu84Phe,ENST00000456171,;					1		MODERATE	366/3615	L122F	COBL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376478					1	
KBTBD3	0	LGGM	GRCh37	11	105923747	105923747	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	26	3	.	.	ENST00000526793.1:c.1669G>T	p.Gly557Cys	p.G557C	ENST00000526793	NM_152433.3	557	Ggt/Tgt	0	1	1	UPI00001BDB79	0	NA	ENST00000526793		ENSG00000182359	22934		29	2.09		HGNC	p.G478C		KBTBD3		SNV							ENST00000534815	protein_coding	getma.org/?cm=var&var=hg19,11,105923747,C,A&fts=all		Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Pfam_domain:PF01344,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF5		G/C		A	medium	1829/3751		getma.org/?cm=msa&ty=f&p=KBTB3_HUMAN&rb=536&re=582&var=G553C	deleterious(0)	G3V161_HUMAN,E9PKJ3_HUMAN			YES	KBTBD3,missense_variant,p.Gly557Cys,ENST00000526793,NM_152433.3;KBTBD3,missense_variant,p.Gly478Cys,ENST00000534815,;KBTBD3,missense_variant,p.Gly557Cys,ENST00000531837,NM_198439.2;KBTBD3,downstream_gene_variant,,ENST00000531482,;KBTBD3,downstream_gene_variant,,ENST00000532662,;							MODERATE	1669/1839	G553C	KBTB3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000436262		CCDS8334.1			1	
GPT2	0	LGGM	GRCh37	16	46934652	46934652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	40	3	.	.	ENST00000340124.4:c.392C>A	p.Ala131Asp	p.A131D	ENST00000340124	NM_133443.2	131	gCt/gAt	0	1	1	UPI000004DBE2	0	getma.org/pdb.php?prot=ALAT2_HUMAN&from=110&to=511&var=A131D	ENST00000340124		ENSG00000166123	18062		43	3.62		HGNC	p.A131D		GPT2		SNV							ENST00000340124	protein_coding	getma.org/?cm=var&var=hg19,16,46934652,C,A&fts=all		hmmpanther:PTHR11751:SF311,hmmpanther:PTHR11751,Gene3D:3.40.640.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383		A/D		A	high	504/3984		getma.org/?cm=msa&ty=f&p=ALAT2_HUMAN&rb=110&re=511&var=A131D	deleterious(0)	B3KR40_HUMAN			YES	GPT2,missense_variant,p.Ala31Asp,ENST00000440783,NM_001142466.1;GPT2,missense_variant,p.Ala131Asp,ENST00000340124,NM_133443.2;GPT2,missense_variant,p.Ala53Asp,ENST00000562132,;							MODERATE	392/1572	A131D	ALAT2_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000345282		CCDS10725.1			1	
LRP2	0	LGGM	GRCh37	2	170092552	170092552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	12	3	.	.	ENST00000263816.3:c.4718G>T	p.Trp1573Leu	p.W1573L	ENST00000263816	NM_004525.2	1573	tGg/tTg	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=1566&to=1607&var=W1573L	ENST00000263816		ENSG00000081479	6694		15	3.19		HGNC	p.W1573L		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170092552,C,A&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825		W/L		A	medium	5004/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=1566&re=1607&var=W1573L		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Trp1573Leu,ENST00000263816,NM_004525.2;LRP2,downstream_gene_variant,,ENST00000443831,;							MODERATE	4718/13968	W1573L	LRP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263816		CCDS2232.1			1	
CSN2	0	LGGM	GRCh37	4	70826666	70826666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	26	3	.	.	ENST00000353151.3:c.48G>T	p.Arg16Ser	p.R16S	ENST00000353151	NM_001891.2	16	agG/agT	0	1	1	UPI0000126FDB	0	NA	ENST00000353151		ENSG00000135222	2447		29	2.16		HGNC	p.R16S		CSN2		SNV							ENST00000353151	protein_coding	getma.org/?cm=var&var=hg19,4,70826666,C,A&fts=all		PIRSF_domain:PIRSF002372,hmmpanther:PTHR11500,hmmpanther:PTHR11500:SF0		R/S		A	medium	60/1066		getma.org/?cm=msa&ty=f&p=CASB_HUMAN&rb=1&re=128&var=R16S	tolerated(0.37)				YES	CSN2,missense_variant,p.Arg16Ser,ENST00000353151,NM_001891.2;							MODERATE	48/681	R16S	CASB_HUMAN			Transcript		unknown(0)	.	ENSP00000341030		CCDS3532.1			1	
NHS	0	LGGM	GRCh37	X	17745532	17745532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	46	3	.	.	ENST00000380060.3:c.3243C>A	p.Phe1081Leu	p.F1081L	ENST00000380060	NM_198270.2	1081	ttC/ttA	0	1	1	UPI00001DFBF3	0	NA	ENST00000380060		ENSG00000188158	7820		49	0.55		HGNC	p.F1081L		NHS		SNV			1				ENST00000380060	protein_coding	getma.org/?cm=var&var=hg19,X,17745532,C,A&fts=all		hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039		F/L		A	neutral	3581/8761		getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=F1081L	tolerated(0.31)				YES	NHS,missense_variant,p.Phe1081Leu,ENST00000380060,NM_198270.2;NHS,missense_variant,p.Phe925Leu,ENST00000398097,NM_001136024.2;NHS,downstream_gene_variant,,ENST00000485305,;							MODERATE	3243/4893	F1081L	NHS_HUMAN			Transcript		benign(0.005)	.	ENSP00000369400		CCDS14181.1			1	
GTF2IRD2	0	LGGM	GRCh37	7	74211485	74211485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	26	3	.	.	ENST00000405086.2:c.2366C>A	p.Ala789Glu	p.A789E	ENST00000405086	NM_173537.3	789	gCa/gAa	0	1		UPI000013E7A9	0	NA	ENST00000451013		ENSG00000196275	30775		29	0.6		HGNC	p.A789E		GTF2IRD2		SNV							ENST00000405086	protein_coding	getma.org/?cm=var&var=hg19,7,74211485,G,T&fts=all		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF35,Superfamily_domains:SSF53098		A/E		T	neutral	1247/2242		getma.org/?cm=msa&ty=f&p=GTD2A_HUMAN&rb=608&re=807&var=A789E	tolerated(0.15)					GTF2IRD2,missense_variant,p.Ala789Glu,ENST00000405086,NM_173537.3;GTF2IRD2,missense_variant,p.Ala336Glu,ENST00000451013,;GTF2IRD2,downstream_gene_variant,,ENST00000361071,;GTF2IRD2,downstream_gene_variant,,ENST00000453619,;STAG3L2,intron_variant,,ENST00000380775,;							MODERATE	1007/1491	A789E	GTD2A_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000406723					1	
RECQL5	0	LGGM	GRCh37	17	73662531	73662531	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	42	3	.	.	ENST00000317905.5:c.107G>T	p.Ser36Ile	p.S36I	ENST00000317905	NM_004259.6	36	aGt/aTt	0	1	1	UPI0000133477	0	getma.org/pdb.php?prot=RECQ5_HUMAN&from=31&to=203&var=S36I	ENST00000317905		ENSG00000108469	9950		45	0.805		HGNC	p.S36I		RECQL5		SNV							ENST00000420326	protein_coding	getma.org/?cm=var&var=hg19,17,73662531,C,A&fts=all		hmmpanther:PTHR13710:SF81,hmmpanther:PTHR13710,TIGRFAM_domain:TIGR00614,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487		S/I		A	low	267/3704		getma.org/?cm=msa&ty=f&p=RECQ5_HUMAN&rb=31&re=203&var=S36I	deleterious(0.04)	Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN			YES	RECQL5,missense_variant,p.Ser36Ile,ENST00000420326,NM_001003715.3,NM_001003716.3;RECQL5,missense_variant,p.Ser36Ile,ENST00000317905,NM_004259.6;RECQL5,missense_variant,p.Ser36Ile,ENST00000423245,;RECQL5,missense_variant,p.Ser36Ile,ENST00000578201,;RECQL5,missense_variant,p.Ser36Ile,ENST00000584999,;RECQL5,missense_variant,p.Ser36Ile,ENST00000340830,;SAP30BP,upstream_gene_variant,,ENST00000584667,NM_013260.6;SAP30BP,upstream_gene_variant,,ENST00000355423,;SAP30BP,upstream_gene_variant,,ENST00000583536,;RECQL5,upstream_gene_variant,,ENST00000580078,;SAP30BP,upstream_gene_variant,,ENST00000578909,;SAP30BP,upstream_gene_variant,,ENST00000579864,;SAP30BP,upstream_gene_variant,,ENST00000578354,;SAP30BP,upstream_gene_variant,,ENST00000582022,;SAP30BP,upstream_gene_variant,,ENST00000580322,;SAP30BP,upstream_gene_variant,,ENST00000293208,;SAP30BP,upstream_gene_variant,,ENST00000577292,;SAP30BP,upstream_gene_variant,,ENST00000542343,;SAP30BP,upstream_gene_variant,,ENST00000578288,;SAP30BP,upstream_gene_variant,,ENST00000580484,;SAP30BP,upstream_gene_variant,,ENST00000584861,;SAP30BP,upstream_gene_variant,,ENST00000579877,;SAP30BP,upstream_gene_variant,,ENST00000583170,;SAP30BP,upstream_gene_variant,,ENST00000583737,;							MODERATE	107/2976	S36I	RECQ5_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000317636		CCDS42380.1			1	
EFCAB6	0	LGGM	GRCh37	22	44178147	44178147	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	41	3	.	.	ENST00000262726.7:c.52C>T	p.Arg18Ter	p.R18*	ENST00000262726	NM_022785.3	18	Cga/Tga	0	1	1	UPI0000225CD7	0	NA	ENST00000262726		ENSG00000186976	24204		44	0		HGNC	p.R18X	rs377471989	EFCAB6	6.06E-05	SNV	A:0						ENST00000262726	protein_coding	getma.org/?cm=var&var=hg19,22,44178147,G,A&fts=all				R/*	A:0.0001	A	NA	306/4869	1.50E-05	NA					YES	EFCAB6,stop_gained,p.Arg18Ter,ENST00000262726,NM_022785.3;EFCAB6,5_prime_UTR_variant,,ENST00000356087,;EFCAB6,5_prime_UTR_variant,,ENST00000358439,;EFCAB6,intron_variant,,ENST00000396231,NM_198856.2;EFCAB6,non_coding_transcript_exon_variant,,ENST00000485142,;EFCAB6,intron_variant,,ENST00000476600,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;	0.000231						HIGH	52/4506	R18*	EFCB6_HUMAN			Transcript			.	ENSP00000262726	3.29E-05	CCDS14049.1			1	
DNAH5	0	LGGM	GRCh37	5	13692229	13692229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	31	3	.	.	ENST00000265104.4:c.13739G>T	p.Arg4580Leu	p.R4580L	ENST00000265104	NM_001369.2	4580	cGg/cTg	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=3927&to=4622&var=R4580L	ENST00000265104		ENSG00000039139	2950		34	1.74		HGNC	p.R4580L		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13692229,C,A&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		R/L		A	low	13844/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3927&re=4622&var=R4580L		O95496_HUMAN			YES	DNAH5,missense_variant,p.Arg4580Leu,ENST00000265104,NM_001369.2;							MODERATE	13739/13875	R4580L	DYH5_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000265104		CCDS3882.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67314298	67314298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	19	3	.	.	ENST00000360461.5:c.351G>T	p.Gln117His	p.Q117H	ENST00000360461	NM_001129727.1	117	caG/caT	0	1	1	UPI000013C774	0	NA	ENST00000360461		ENSG00000196155	24501		22	1.935		HGNC	p.Q117H		PLEKHG4		SNV			1				ENST00000360461	protein_coding	getma.org/?cm=var&var=hg19,16,67314298,G,T&fts=all				Q/H		T	medium	2886/6782		getma.org/?cm=msa&ty=f&p=PKHG4_HUMAN&rb=1&re=200&var=Q117H	tolerated(0.07)	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,missense_variant,p.Gln117His,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,missense_variant,p.Gln117His,ENST00000379344,NM_001129729.1;PLEKHG4,missense_variant,p.Gln117His,ENST00000450733,NM_001129731.1;PLEKHG4,missense_variant,p.Gln117His,ENST00000427155,NM_001129728.1;PLEKHG4,intron_variant,,ENST00000562744,;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,missense_variant,p.Gln117His,ENST00000563969,;PLEKHG4,missense_variant,p.Gln117His,ENST00000393966,;							MODERATE	351/3576	Q117H	PKHG4_HUMAN			Transcript		benign(0.01)	.	ENSP00000353646		CCDS32466.1			1	
LHX1	0	LGGM	GRCh37	17	35297734	35297734	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	21	3	.	.	ENST00000254457.5:c.318C>A	p.Ile106=	p.I106=	ENST00000254457	NM_005568.3	106	atC/atA	0	1	1	UPI000013CE37	0		ENST00000254457		ENSG00000132130	6593		24			HGNC	p.I106I		LHX1		SNV							ENST00000254457	protein_coding			PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132		I		A		1729/4121				Q58F18_HUMAN			YES	LHX1,synonymous_variant,p.=,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,;							LOW	318/1221		LHX1_HUMAN			Transcript			.	ENSP00000254457		CCDS11316.1			1	
ISM2	0	LGGM	GRCh37	14	77950723	77950723	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	26	3	.	.	ENST00000342219.4:c.570G>C	p.Leu190=	p.L190=	ENST00000342219	NM_199296.2	190	ctG/ctC	0	1	1	UPI000019950C	0		ENST00000342219		ENSG00000100593	23176		29			HGNC	p.L190L		ISM2		SNV							ENST00000493585	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10239:SF24,hmmpanther:PTHR10239		L		G		627/2971				G3XAI3_HUMAN			YES	ISM2,synonymous_variant,p.=,ENST00000393684,;ISM2,synonymous_variant,p.=,ENST00000342219,NM_199296.2;ISM2,synonymous_variant,p.=,ENST00000429906,;ISM2,synonymous_variant,p.=,ENST00000493585,NM_182509.3;ISM2,intron_variant,,ENST00000412904,;ISM2,intron_variant,,ENST00000554801,;ISM2,3_prime_UTR_variant,,ENST00000216481,;ISM2,3_prime_UTR_variant,,ENST00000471734,;ISM2,non_coding_transcript_exon_variant,,ENST00000472744,;ISM2,upstream_gene_variant,,ENST00000487738,;ISM2,downstream_gene_variant,,ENST00000480979,;							LOW	570/1716		ISM2_HUMAN			Transcript			.	ENSP00000341490		CCDS9864.1			1	
EPG5	0	LGGM	GRCh37	18	43435552	43435552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	42	3	.	.	ENST00000282041.5:c.7543C>A	p.Pro2515Thr	p.P2515T	ENST00000282041	NM_020964.2	2515	Ccc/Acc	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		45	1.245		HGNC	p.P2515T		EPG5		SNV			1				ENST00000282041	protein_coding	getma.org/?cm=var&var=hg19,18,43435552,G,T&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		P/T		T	low	7578/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=P2515T	tolerated(0.33)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Pro2515Thr,ENST00000282041,NM_020964.2;EPG5,missense_variant,p.Pro441Thr,ENST00000590854,;EPG5,non_coding_transcript_exon_variant,,ENST00000587262,;EPG5,downstream_gene_variant,,ENST00000585906,;EPG5,downstream_gene_variant,,ENST00000587884,;EPG5,downstream_gene_variant,,ENST00000592272,;EPG5,downstream_gene_variant,,ENST00000590884,;							MODERATE	7543/7740	P2515T	EPG5_HUMAN			Transcript		benign(0.037)	.	ENSP00000282041		CCDS11926.2			1	
SENP6	0	LGGM	GRCh37	6	76376519	76376519	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	42	3	.	.	ENST00000447266.2:c.1086C>A	p.Ser362=	p.S362=	ENST00000447266	NM_015571.2	362	tcC/tcA	0	1	1	UPI0000141B65	0		ENST00000447266		ENSG00000112701	20944		45			HGNC	p.S355S		SENP6		SNV							ENST00000327284	protein_coding			hmmpanther:PTHR12438,hmmpanther:PTHR12438:SF14,Low_complexity_(Seg):seg		S		A		1564/6501				H0Y4F4_HUMAN			YES	SENP6,synonymous_variant,p.=,ENST00000370014,NM_001100409.1;SENP6,synonymous_variant,p.=,ENST00000447266,NM_015571.2;SENP6,synonymous_variant,p.=,ENST00000370010,;SENP6,synonymous_variant,p.=,ENST00000327284,;SENP6,synonymous_variant,p.=,ENST00000424947,;SENP6,upstream_gene_variant,,ENST00000541192,;SENP6,downstream_gene_variant,,ENST00000483859,;SENP6,downstream_gene_variant,,ENST00000436928,;SENP6,upstream_gene_variant,,ENST00000503501,;SENP6,downstream_gene_variant,,ENST00000485497,;							LOW	1086/3339		SENP6_HUMAN			Transcript			.	ENSP00000402527		CCDS47454.1			1	
LLGL1	0	LGGM	GRCh37	17	18144992	18144992	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	16	3	.	.	ENST00000316843.4:c.2730C>A	p.Ser910Arg	p.S910R	ENST00000316843	NM_004140.3	910	agC/agA	0	1	1	UPI000049DE38	0	NA	ENST00000316843		ENSG00000131899	6628		19	1.255		HGNC	p.S910R	rs752194023	LLGL1		SNV							ENST00000316843	protein_coding	getma.org/?cm=var&var=hg19,17,18144992,C,A&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF21		S/R		A	low	2826/4260	1.51E-05	getma.org/?cm=msa&ty=f&p=L2GL1_HUMAN&rb=781&re=980&var=S910R	deleterious(0)	A0PJG1_HUMAN			YES	LLGL1,missense_variant,p.Ser910Arg,ENST00000316843,NM_004140.3;FLII,downstream_gene_variant,,ENST00000327031,NM_002018.3;FLII,downstream_gene_variant,,ENST00000545457,NM_001256265.1;FLII,downstream_gene_variant,,ENST00000379450,;FLII,downstream_gene_variant,,ENST00000579294,NM_001256264.1;FLII,downstream_gene_variant,,ENST00000578558,;FLII,downstream_gene_variant,,ENST00000577398,;FLII,downstream_gene_variant,,ENST00000577485,;LLGL1,non_coding_transcript_exon_variant,,ENST00000479155,;FLII,downstream_gene_variant,,ENST00000578101,;FLII,downstream_gene_variant,,ENST00000465046,;FLII,downstream_gene_variant,,ENST00000459958,;FLII,downstream_gene_variant,,ENST00000580453,;FLII,downstream_gene_variant,,ENST00000487693,;FLII,downstream_gene_variant,,ENST00000493600,;FLII,downstream_gene_variant,,ENST00000581858,;FLII,downstream_gene_variant,,ENST00000474265,;FLII,downstream_gene_variant,,ENST00000487369,;FLII,downstream_gene_variant,,ENST00000580966,;FLII,downstream_gene_variant,,ENST00000493401,;							MODERATE	2730/3195	S910R	L2GL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000321537	8.24E-06	CCDS32586.1			1	
ZNF429	0	LGGM	GRCh37	19	21720160	21720160	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	31	3	.	.	ENST00000358491.4:c.1305C>A	p.Thr435=	p.T435=	ENST00000358491	NM_001001415.2	435	acC/acA	0	1	1	UPI000022ABC2	0		ENST00000358491		ENSG00000197013	20817		34			HGNC	p.T435T		ZNF429		SNV							ENST00000358491	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF239,SMART_domains:SM00355,Superfamily_domains:SSF57667		T		A		1513/2233							YES	ZNF429,synonymous_variant,p.=,ENST00000358491,NM_001001415.2;ZNF429,intron_variant,,ENST00000597078,;ZNF429,upstream_gene_variant,,ENST00000594385,;ZNF429,downstream_gene_variant,,ENST00000594022,;							LOW	1305/2025		ZN429_HUMAN			Transcript			.	ENSP00000351280		CCDS42537.1			1	
MET	0	LGGM	GRCh37	7	116423439	116423439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	21	3	.	.	ENST00000397752.3:c.3714C>A	p.His1238Gln	p.H1238Q	ENST00000397752	NM_000245.2	1238	caC/caA	0	1		UPI000020F975	0	getma.org/pdb.php?prot=MET_HUMAN&from=1078&to=1337&var=H1238Q	ENST00000397752		ENSG00000105976	7029		24	-0.315		HGNC	p.H108Q		MET		SNV			1				ENST00000539704	protein_coding	getma.org/?cm=var&var=hg19,7,116423439,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF261,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000617,SMART_domains:SM00219,Superfamily_domains:SSF56112		H/Q		A	neutral	3914/6635		getma.org/?cm=msa&ty=f&p=MET_HUMAN&rb=1078&re=1337&var=H1238Q	tolerated(0.08)	Q9UEJ3_HUMAN,B4DPY6_HUMAN,B4DLF5_HUMAN				MET,missense_variant,p.His1238Gln,ENST00000397752,NM_000245.2,NM_001127500.1;MET,missense_variant,p.His1256Gln,ENST00000318493,;MET,missense_variant,p.His108Gln,ENST00000539704,;							MODERATE	3714/4173	H1238Q	MET_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000380860		CCDS43636.1			1	
FARP1	0	LGGM	GRCh37	13	99090052	99090052	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	25	3	.	.	ENST00000319562.6:c.2275-1006C>A		*759*	ENST00000319562	NM_005766.2			0	1	1	UPI000007052C	0		ENST00000319562		ENSG00000152767	3591		28			HGNC	p.H769Q		FARP1		SNV							ENST00000376586	protein_coding							A		-/4855				M0QYB0_HUMAN			YES	FARP1,missense_variant,p.His769Gln,ENST00000376586,;FARP1,missense_variant,p.His769Gln,ENST00000595437,NM_001286839.1;FARP1,intron_variant,,ENST00000319562,NM_005766.2;FARP1,intron_variant,,ENST00000596256,;FARP1,downstream_gene_variant,,ENST00000423063,;FARP1-AS1,upstream_gene_variant,,ENST00000432229,;FARP1,downstream_gene_variant,,ENST00000597777,;							MODIFIER	-/3138		FARP1_HUMAN			Transcript			.	ENSP00000322926		CCDS9487.1			1	
CDH8	0	LGGM	GRCh37	16	61851447	61851447	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	27	3	.	.	ENST00000577390.1:c.1213G>T	p.Ala405Ser	p.A405S	ENST00000577390	NM_001796.4	405	Gct/Tct	0	1	1	UPI0000126D9F	0	getma.org/pdb.php?prot=CADH8_HUMAN&from=396&to=487&var=A405S	ENST00000577390		ENSG00000150394	1767		30	1.645		HGNC	p.A405S		CDH8		SNV							ENST00000577390	protein_coding	getma.org/?cm=var&var=hg19,16,61851447,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,Superfamily_domains:SSF49313		A/S		A	low	2168/9721		getma.org/?cm=msa&ty=f&p=CADH8_HUMAN&rb=396&re=487&var=A405S	tolerated(0.15)	J3KTG8_HUMAN,J3KT81_HUMAN			YES	CDH8,missense_variant,p.Ala405Ser,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Ala405Ser,ENST00000577730,;CDH8,missense_variant,p.Ala405Ser,ENST00000584337,;CDH8,missense_variant,p.Ala405Ser,ENST00000299345,;CDH8,missense_variant,p.Ala405Ser,ENST00000583382,;CDH8,missense_variant,p.Ala405Ser,ENST00000585315,;CDH8,non_coding_transcript_exon_variant,,ENST00000582242,;							MODERATE	1213/2400	A405S	CADH8_HUMAN			Transcript		possibly_damaging(0.519)	.	ENSP00000462701		CCDS10802.1			1	
MEGF8	0	LGGM	GRCh37	19	42872687	42872687	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	5	4	.	.	ENST00000334370.4:c.6153C>T	p.Ser2051=	p.S2051=	ENST00000334370	NM_001410.2	2051	tcC/tcT	0	1		UPI00005788D1	0		ENST00000251268		ENSG00000105429	3233		9			HGNC	p.S2051S		MEGF8		SNV			1				ENST00000334370	protein_coding			hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF241,SMART_domains:SM00423		S		T		6354/9549								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,;							LOW	6354/8538		MEGF8_HUMAN			Transcript			.	ENSP00000251268		CCDS62693.1			1	
TAS2R1	0	LGGM	GRCh37	5	9630133	9630133	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	24	4	.	.	ENST00000382492.2:c.12T>C	p.Ser4=	p.S4=	ENST00000382492	NM_019599.2	4	tcT/tcC	0	1	1	UPI0000038B09	0		ENST00000382492		ENSG00000169777	14909		28			HGNC	p.S4S		TAS2R1		SNV							ENST00000382492	protein_coding			Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF36		S		G		331/1355				U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN			YES	TAS2R1,synonymous_variant,p.=,ENST00000382492,NM_019599.2;TAS2R1,intron_variant,,ENST00000514078,;TAS2R1,intron_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;							LOW	12/900		TA2R1_HUMAN			Transcript			.	ENSP00000371932		CCDS3876.1			1	
CSMD3	0	LGGM	GRCh37	8	113293485	113293485	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	93	4	.	.	ENST00000297405.5:c.9426G>T	p.Met3142Ile	p.M3142I	ENST00000297405	NM_198123.1	3142	atG/atT	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=3114&to=3168&var=M3142I	ENST00000297405		ENSG00000164796	19291		97	0.44		HGNC	p.M3142I		CSMD3		SNV							ENST00000297405	protein_coding	getma.org/?cm=var&var=hg19,8,113293485,C,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535		M/I		A	neutral	9671/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=3114&re=3168&var=M3142I	tolerated(0.45)				YES	CSMD3,missense_variant,p.Met3142Ile,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Met3102Ile,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Met3072Ile,ENST00000352409,;CSMD3,missense_variant,p.Met2973Ile,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Met2412Ile,ENST00000339701,;							MODERATE	9426/11124	M3142I	CSMD3_HUMAN			Transcript		benign(0.1)	.	ENSP00000297405		CCDS6315.1			1	
KIAA1586	0	LGGM	GRCh37	6	56918588	56918588	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	28	4	.	.	ENST00000370733.4:c.1291A>T	p.Ile431Leu	p.I431L	ENST00000370733	NM_020931.2	431	Ata/Tta	0	1	1	UPI0000074573	0	NA	ENST00000370733		ENSG00000168116	21360		32	0		HGNC	p.I404L		KIAA1586		SNV							ENST00000545356	protein_coding	getma.org/?cm=var&var=hg19,6,56918588,A,T&fts=all		hmmpanther:PTHR11389:SF461,hmmpanther:PTHR11389,Superfamily_domains:SSF53098		I/L		T	neutral	1498/2933		getma.org/?cm=msa&ty=f&p=K1586_HUMAN&rb=401&re=600&var=I431L	tolerated(0.15)				YES	KIAA1586,missense_variant,p.Ile431Leu,ENST00000370733,NM_020931.2,NM_001286275.1,NM_001286276.1;KIAA1586,missense_variant,p.Ile404Leu,ENST00000545356,NM_001286274.1;KIAA1586,downstream_gene_variant,,ENST00000488682,;							MODERATE	1291/2364	I431L	K1586_HUMAN			Transcript		benign(0.005)	.	ENSP00000359768		CCDS34480.1			1	
DEPDC5	0	LGGM	GRCh37	22	32234741	32234741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	63	4	.	.	ENST00000382112.3:c.2398C>A	p.Gln800Lys	p.Q800K	ENST00000382112	NM_001136029.2	800	Cag/Aag	0	1		UPI00004708D4	0	NA	ENST00000400246		ENSG00000100150	18423		67	2.505		HGNC	p.Q731K		DEPDC5		SNV			1				ENST00000535622	protein_coding	getma.org/?cm=var&var=hg19,22,32234741,C,A&fts=all		hmmpanther:PTHR13179		Q/K		A	medium	2567/5410		getma.org/?cm=msa&ty=f&p=DEPD5_HUMAN&rb=783&re=982&var=Q800K	deleterious(0)	C9JGS4_HUMAN				DEPDC5,missense_variant,p.Gln809Lys,ENST00000400246,;DEPDC5,missense_variant,p.Gln809Lys,ENST00000266091,;DEPDC5,missense_variant,p.Gln800Lys,ENST00000400249,NM_014662.3;DEPDC5,missense_variant,p.Gln800Lys,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,missense_variant,p.Gln800Lys,ENST00000400248,;DEPDC5,missense_variant,p.Gln809Lys,ENST00000382111,;DEPDC5,missense_variant,p.Gln731Lys,ENST00000382105,;DEPDC5,missense_variant,p.Gln731Lys,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Gln207Lys,ENST00000433147,;DEPDC5,downstream_gene_variant,,ENST00000536766,;RNU6-201P,downstream_gene_variant,,ENST00000517100,;DEPDC5,downstream_gene_variant,,ENST00000462414,;DEPDC5,missense_variant,p.Gln161Lys,ENST00000448753,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000490731,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000471914,;DEPDC5,downstream_gene_variant,,ENST00000494065,;							MODERATE	2425/4659	Q800K	DEPD5_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000383105					1	
PRKCB	0	LGGM	GRCh37	16	24202480	24202480	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	64	4	.	.	ENST00000303531.7:c.1792G>T	p.Ala598Ser	p.A598S	ENST00000303531	NM_002738.6	598	Gca/Tca	0	1		UPI000012DF67	0	getma.org/pdb.php?prot=KPCB_HUMAN&from=342&to=600&var=A598S	ENST00000321728		ENSG00000166501	9395		68	0.01		HGNC	p.A598S		PRKCB		SNV							ENST00000321728	protein_coding	getma.org/?cm=var&var=hg19,16,24202480,G,T&fts=all		Gene3D:1.10.510.10,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS50011,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/S		T	neutral	1967/2689		getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=342&re=600&var=A598S	tolerated(0.26)	I3L1Z0_HUMAN				PRKCB,missense_variant,p.Ala598Ser,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Ala598Ser,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Ala37Ser,ENST00000466124,;							MODERATE	1792/2016	A598S	KPCB_HUMAN			Transcript		benign(0.029)	.	ENSP00000318315		CCDS10618.1			1	
CCT8L2	0	LGGM	GRCh37	22	17072560	17072560	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	63	5	.	.	ENST00000359963.3:c.881T>G	p.Val294Gly	p.V294G	ENST00000359963	NM_014406.4	294	gTg/gGg	0	1	1	UPI000006CF87	0	getma.org/pdb.php?prot=TCPQL_HUMAN&from=43&to=525&var=V294G	ENST00000359963		ENSG00000198445	15553		68	2.57		HGNC	p.V294G	rs765565325	CCT8L2		SNV							ENST00000359963	protein_coding	getma.org/?cm=var&var=hg19,22,17072560,A,C&fts=all		Superfamily_domains:SSF52029,Pfam_domain:PF00118,Gene3D:3.50.7.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353		V/G		C	medium	1141/2034	3.00E-05	getma.org/?cm=msa&ty=f&p=TCPQL_HUMAN&rb=43&re=525&var=V294G	deleterious(0)				YES	CCT8L2,missense_variant,p.Val294Gly,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;							MODERATE	881/1674	V294G	TCPQM_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353048	1.65E-05	CCDS13738.1			1	
HMCN1	0	LGGM	GRCh37	1	186076082	186076082	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	58	5	.	.	ENST00000271588.4:c.10837C>T	p.Leu3613=	p.L3613=	ENST00000271588	NM_031935.2	3613	Cta/Tta	0	1	1	UPI0000458C0E	0		ENST00000271588		ENSG00000143341	19194		63			HGNC	p.L3613L		HMCN1		SNV			1				ENST00000367492	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726		L		T		11066/18208							YES	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;							LOW	10837/16908		HMCN1_HUMAN			Transcript			.	ENSP00000271588		CCDS30956.1			1	
OC90	0	LGGM	GRCh37	8	133036837	133036837	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	16	5	.	.	ENST00000254627.3:c.1325C>G	p.Ser442Cys	p.S442C	ENST00000254627	NM_001080399.2	442	tCt/tGt	0	1	1	UPI000192B908	0	NA	ENST00000254627		ENSG00000253117	8100		21	1.75		HGNC	p.S442C		OC90		SNV							ENST00000254627	protein_coding	getma.org/?cm=var&var=hg19,8,133036837,G,C&fts=all		hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF1,Low_complexity_(Seg):seg		S/C		C	low	1412/1782		getma.org/?cm=msa&ty=f&p=OC90_HUMAN&rb=435&re=493&var=S458C	deleterious(0)				YES	OC90,missense_variant,p.Ser654Cys,ENST00000262283,;OC90,missense_variant,p.Ser458Cys,ENST00000443356,;OC90,missense_variant,p.Ser442Cys,ENST00000254627,NM_001080399.2;OC90,missense_variant,p.Ser442Cys,ENST00000603859,;							MODERATE	1325/1434	S458C	OC90_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254627		CCDS47919.1			1	
CRYBA2	0	LGGM	GRCh37	2	219855110	219855110	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071941	H071941N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	14	5	.	.	ENST00000295728.2:c.458A>G	p.Tyr153Cys	p.Y153C	ENST00000295728	NM_057093.1	153	tAc/tGc	0	1	1	UPI0000000C76	0	getma.org/pdb.php?prot=CRBA2_HUMAN&from=107&to=195&var=Y153C	ENST00000295728		ENSG00000163499	2395		19	3.75		HGNC	p.Y153C		CRYBA2		SNV			1				ENST00000295728	protein_coding	getma.org/?cm=var&var=hg19,2,219855110,T,C&fts=all		Gene3D:2.60.20.10,Pfam_domain:PF00030,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF7,SMART_domains:SM00247,Superfamily_domains:SSF49695		Y/C		C	high	695/893		getma.org/?cm=msa&ty=f&p=CRBA2_HUMAN&rb=107&re=195&var=Y153C	deleterious(0.02)	C9JDH2_HUMAN			YES	CRYBA2,missense_variant,p.Tyr153Cys,ENST00000295728,NM_057093.1;CRYBA2,missense_variant,p.Tyr153Cys,ENST00000392096,NM_057094.1;FEV,upstream_gene_variant,,ENST00000295727,NM_017521.2;CRYBA2,downstream_gene_variant,,ENST00000453769,;CRYBA2,non_coding_transcript_exon_variant,,ENST00000487181,;CRYBA2,non_coding_transcript_exon_variant,,ENST00000496566,;CRYBA2,downstream_gene_variant,,ENST00000490678,;							MODERATE	458/594	Y153C	CRBA2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000295728		CCDS2429.1			1	
TRAV41	0	LGGM	GRCh37	14	22789006	22789006	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	10	5	.	.	ENST00000390468.1:c.219A>C	p.Ser73=	p.S73=	ENST00000390468		73	tcA/tcC	0	1	1	UPI000011D135	0		ENST00000390468		ENSG00000211820	12142		15			HGNC	p.S73S		TRAV41		SNV							ENST00000390468	TR_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19339,hmmpanther:PTHR19339:SF1,SMART_domains:SM00406,Superfamily_domains:SSF48726		S		C		219/336							YES	TRAV41,synonymous_variant,p.=,ENST00000390468,;							LOW	219/336					Transcript			.	ENSP00000451177					1	
NCOA2	0	LGGM	GRCh37	8	71041148	71041148	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	40	6	.	.	ENST00000452400.2:c.3392C>T	p.Pro1131Leu	p.P1131L	ENST00000452400	NM_006540.2	1131	cCc/cTc	0	1	1	UPI000012FE42	0	NA	ENST00000452400		ENSG00000140396	7669		46	1.78		HGNC	p.P219L		NCOA2		SNV							ENST00000267974	protein_coding	getma.org/?cm=var&var=hg19,8,71041148,G,A&fts=all		PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF2		P/L		A	low	3574/8447		getma.org/?cm=msa&ty=f&p=NCOA2_HUMAN&rb=1118&re=1280&var=P1131L	tolerated(0.06)				YES	NCOA2,missense_variant,p.Pro1131Leu,ENST00000452400,NM_006540.2;NCOA2,missense_variant,p.Pro257Leu,ENST00000518363,;NCOA2,missense_variant,p.Pro219Leu,ENST00000267974,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,upstream_gene_variant,,ENST00000521239,;							MODERATE	3392/4395	P1131L	NCOA2_HUMAN			Transcript		benign(0.017)	.	ENSP00000399968		CCDS47872.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110376851	110376851	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	48	6	.	.	ENST00000378402.5:c.149C>G	p.Thr50Ser	p.T50S	ENST00000378402	NM_177531.4	50	aCt/aGt	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		54	2.34		HGNC	p.T50S		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110376851,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296		T/S		G	medium	253/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=31&re=137&var=T50S	deleterious(0)				YES	PKHD1L1,missense_variant,p.Thr50Ser,ENST00000378402,NM_177531.4;							MODERATE	149/12732	T50S	PKHL1_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000367655		CCDS47911.1			1	
KIFC2	0	LGGM	GRCh37	8	145694203	145694203	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	24	6	.	.	ENST00000301332.2:c.1099G>A	p.Glu367Lys	p.E367K	ENST00000301332	NM_145754.2	367	Gag/Aag	0	1	1	UPI000006D3B2	0	NA	ENST00000301332		ENSG00000167702	29530		30	0.975		HGNC	p.E367K		KIFC2		SNV							ENST00000301332	protein_coding	getma.org/?cm=var&var=hg19,8,145694203,G,A&fts=all				E/K		A	low	1476/3646		getma.org/?cm=msa&ty=f&p=KIFC2_HUMAN&rb=320&re=421&var=E367K	deleterious(0.03)				YES	KIFC2,missense_variant,p.Glu367Lys,ENST00000301332,NM_145754.2;KIFC2,missense_variant,p.Glu115Lys,ENST00000301331,;FOXH1,downstream_gene_variant,,ENST00000377317,NM_003923.2;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000533764,;CYHR1,upstream_gene_variant,,ENST00000530637,;CTD-2517M22.16,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,non_coding_transcript_exon_variant,,ENST00000529864,;KIFC2,upstream_gene_variant,,ENST00000531425,;KIFC2,downstream_gene_variant,,ENST00000533114,;KIFC2,downstream_gene_variant,,ENST00000529644,;CYHR1,upstream_gene_variant,,ENST00000524623,;							MODERATE	1099/2517	E367K	KIFC2_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000301332		CCDS6427.1			1	
MINK1	0	LGGM	GRCh37	17	4795800	4795800	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	6	7	.	.	ENST00000355280.6:c.2191G>A	p.Ala731Thr	p.A731T	ENST00000355280	NM_001024937.3	731	Gcc/Acc	0	1	1	UPI00001678BB	0	NA	ENST00000355280		ENSG00000141503	17565		13	0		HGNC	p.A731T	rs376943724	MINK1		SNV	A:0.0003			0.001			ENST00000355280	protein_coding	getma.org/?cm=var&var=hg19,17,4795800,G,A&fts=all	A:0.0008	Low_complexity_(Seg):seg,hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361		A/T	A:0	A	neutral	2387/4961		getma.org/?cm=msa&ty=f&p=MINK1_HUMAN&rb=321&re=1022&var=A731T	tolerated(0.59)	Q9HBM9_HUMAN,Q8NG69_HUMAN	A:0	A:0	YES	MINK1,missense_variant,p.Ala731Thr,ENST00000355280,NM_001024937.3,NM_015716.4,NM_153827.4;MINK1,missense_variant,p.Ala711Thr,ENST00000453408,;MINK1,intron_variant,,ENST00000347992,NM_170663.4;MINK1,upstream_gene_variant,,ENST00000576037,;MINK1,non_coding_transcript_exon_variant,,ENST00000572629,;MINK1,intron_variant,,ENST00000572330,;MINK1,intron_variant,,ENST00000574453,;MINK1,intron_variant,,ENST00000571207,;MINK1,upstream_gene_variant,,ENST00000574871,;MINK1,upstream_gene_variant,,ENST00000575511,;MINK1,upstream_gene_variant,,ENST00000572304,;MINK1,upstream_gene_variant,,ENST00000571526,;		A:0.0002					MODERATE	2191/3999	A731T	MINK1_HUMAN		A:0	Transcript		benign(0)	common_variant	ENSP00000347427	5.92E-05	CCDS45588.1		A:0	1	
PDZD9	0	LGGM	GRCh37	16	22000063	22000063	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	21	7	.	.	ENST00000537222.2:c.81T>C	p.Leu27=	p.L27=	ENST00000537222	NM_173806.3	27	ctT/ctC	0	1		UPI0000EADF1E	0		ENST00000424898		ENSG00000155714	28740		28			HGNC	p.L27L		PDZD9		SNV							ENST00000537222	protein_coding			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR22698,SMART_domains:SM00228,Superfamily_domains:SSF50156		L		G		324/1260								PDZD9,synonymous_variant,p.=,ENST00000286143,;PDZD9,synonymous_variant,p.=,ENST00000424898,;PDZD9,synonymous_variant,p.=,ENST00000537222,NM_173806.3;PDZD9,3_prime_UTR_variant,,ENST00000523914,;							LOW	261/795		PDZD9_HUMAN			Transcript			.	ENSP00000400514					1	
TM2D3	0	LGGM	GRCh37	15	102186992	102186992	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	18	9	.	.	ENST00000333202.3:c.438G>T	p.Thr146=	p.T146=	ENST00000333202	NM_078474.2	146	acG/acT	0	1	1	UPI00001B02BE	0		ENST00000333202		ENSG00000184277	24128		27			HGNC	p.T120T		TM2D3		SNV							ENST00000428002	protein_coding			hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF2		T		A		444/1381				B3KT51_HUMAN			YES	TM2D3,synonymous_variant,p.=,ENST00000561373,;TM2D3,synonymous_variant,p.=,ENST00000333202,NM_078474.2;TM2D3,synonymous_variant,p.=,ENST00000559107,;TM2D3,synonymous_variant,p.=,ENST00000347970,NM_025141.3;TM2D3,synonymous_variant,p.=,ENST00000428002,;TM2D3,synonymous_variant,p.=,ENST00000558129,;RNU6-807P,downstream_gene_variant,,ENST00000516805,;TM2D3,downstream_gene_variant,,ENST00000560212,;TM2D3,3_prime_UTR_variant,,ENST00000560013,;TM2D3,3_prime_UTR_variant,,ENST00000558677,;TM2D3,non_coding_transcript_exon_variant,,ENST00000559024,;TM2D3,non_coding_transcript_exon_variant,,ENST00000560910,;TM2D3,upstream_gene_variant,,ENST00000559891,;TM2D3,downstream_gene_variant,,ENST00000561356,;							LOW	438/744		TM2D3_HUMAN			Transcript			.	ENSP00000330433		CCDS10393.1			1	
PPIAL4G	0	LGGM	GRCh37	1	143767559	143767559	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	213	9	.	.	ENST00000419275.1:c.290T>G	p.Ile97Ser	p.I97S	ENST00000419275	NM_001123068.1	97	aTc/aGc	0	1	1	UPI0000197DBC	0	getma.org/pdb.php?prot=PAL4G_HUMAN&from=7&to=163&var=I97S	ENST00000419275		ENSG00000236334	33996		222	1.645		HGNC	p.I97S		PPIAL4G		SNV							ENST00000419275	protein_coding	getma.org/?cm=var&var=hg19,1,143767559,A,C&fts=all		Gene3D:2.40.100.10,Pfam_domain:PF00160,PIRSF_domain:PIRSF001467,Prints_domain:PR00153,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF237,Superfamily_domains:SSF50891		I/S		C	low	323/738		getma.org/?cm=msa&ty=f&p=PAL4G_HUMAN&rb=7&re=163&var=I97S	deleterious_low_confidence(0)				YES	PPIAL4G,missense_variant,p.Ile97Ser,ENST00000419275,NM_001123068.1;							MODERATE	290/495	I97S	PAL4G_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000393845		CCDS41375.1			1	
KCNA2	0	LGGM	GRCh37	1	111147317	111147317	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	14	10	.	.	ENST00000485317.1:c.88G>A	p.Glu30Lys	p.E30K	ENST00000485317		30	Gag/Aag	0	1		UPI00001279A1	0	NA	ENST00000316361		ENSG00000177301	6220		24	1.905		HGNC	p.E30K		KCNA2		SNV			1				ENST00000440270	protein_coding	getma.org/?cm=var&var=hg19,1,111147317,C,T&fts=all		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23		E/K		T	medium	709/2150		getma.org/?cm=msa&ty=f&p=KCNA2_HUMAN&rb=1&re=34&var=E30K	tolerated(0.09)					KCNA2,missense_variant,p.Glu30Lys,ENST00000485317,;KCNA2,missense_variant,p.Glu30Lys,ENST00000316361,NM_004974.3;KCNA2,missense_variant,p.Glu30Lys,ENST00000440270,;KCNA2,missense_variant,p.Glu30Lys,ENST00000369770,NM_001204269.1;KCNA2,intron_variant,,ENST00000525120,;							MODERATE	88/1500	E30K	KCNA2_HUMAN			Transcript		benign(0.065)	.	ENSP00000314520		CCDS827.1			1	
CBLL1	0	LGGM	GRCh37	7	107399110	107399110	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	24	10	.	.	ENST00000440859.3:c.963A>G	p.Glu321=	p.E321=	ENST00000440859	NM_024814.2	321	gaA/gaG	0	1	1	UPI000006E5AC	0		ENST00000440859		ENSG00000105879	21225		34			HGNC	p.E320E		CBLL1		SNV							ENST00000222597	protein_coding			hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF2		E		G		1430/4432				C9J2P9_HUMAN,B4DDV7_HUMAN			YES	CBLL1,synonymous_variant,p.=,ENST00000440859,NM_024814.2;CBLL1,synonymous_variant,p.=,ENST00000222597,NM_001284291.1;CBLL1,synonymous_variant,p.=,ENST00000420796,;CBLL1,downstream_gene_variant,,ENST00000415884,;CBLL1,downstream_gene_variant,,ENST00000493361,;CBLL1,downstream_gene_variant,,ENST00000432748,;CBLL1,downstream_gene_variant,,ENST00000487517,;							LOW	963/1476		HAKAI_HUMAN			Transcript			.	ENSP00000401277		CCDS5747.1			1	
EFCAB7	0	LGGM	GRCh37	1	64034128	64034128	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	9	10	.	.	ENST00000371088.4:c.1645G>A	p.Glu549Lys	p.E549K	ENST00000371088	NM_032437.2	549	Gaa/Aaa	0	1	1	UPI000006EAB2	0	NA	ENST00000371088		ENSG00000203965	29379		19	1.78		HGNC	p.E549K		EFCAB7		SNV							ENST00000371088	protein_coding	getma.org/?cm=var&var=hg19,1,64034128,G,A&fts=all		hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF138		E/K		A	low	1891/2313		getma.org/?cm=msa&ty=f&p=EFCB7_HUMAN&rb=432&re=629&var=E549K	tolerated(0.19)				YES	EFCAB7,missense_variant,p.Glu549Lys,ENST00000371088,NM_032437.2;EFCAB7,non_coding_transcript_exon_variant,,ENST00000461039,;EFCAB7,non_coding_transcript_exon_variant,,ENST00000460678,;ITGB3BP,intron_variant,,ENST00000478138,;							MODERATE	1645/1890	E549K	EFCB7_HUMAN			Transcript		benign(0.034)	.	ENSP00000360129		CCDS30737.1			1	
DDN	0	LGGM	GRCh37	12	49391305	49391305	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	16	10	.	.	ENST00000421952.2:c.1354G>A	p.Val452Ile	p.V452I	ENST00000421952	NM_015086.1	452	Gtc/Atc	0	1	1	UPI000019821C	0	NA	ENST00000421952		ENSG00000181418	24458	8.68E-05	26	0.55		HGNC	p.V452I	rs771843519	DDN		SNV							ENST00000421952	protein_coding	getma.org/?cm=var&var=hg19,12,49391305,C,T&fts=all		Pfam_domain:PF15498,hmmpanther:PTHR16757		V/I		T	neutral	1376/3749		getma.org/?cm=msa&ty=f&p=DEND_HUMAN&rb=450&re=709&var=V452I	tolerated_low_confidence(0.34)				YES	DDN,missense_variant,p.Val452Ile,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,;							MODERATE	1354/2136	V452I	DEND_HUMAN			Transcript		benign(0.012)	.	ENSP00000390590	8.24E-06	CCDS31791.2			1	
ABLIM1	0	LGGM	GRCh37	10	116232763	116232763	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	51	10	.	.	ENST00000277895.5:c.1248C>T	p.Asp416=	p.D416=	ENST00000277895	NM_002313.5	416	gaC/gaT	0	1	1	UPI0000418D06	0		ENST00000277895		ENSG00000099204	78		61			HGNC	p.D356D		ABLIM1		SNV							ENST00000533213	protein_coding			hmmpanther:PTHR24213:SF18,hmmpanther:PTHR24213		D		A		1346/2657							YES	ABLIM1,synonymous_variant,p.=,ENST00000533213,;ABLIM1,synonymous_variant,p.=,ENST00000369252,NM_001003408.1,NM_001003407.1;ABLIM1,synonymous_variant,p.=,ENST00000392952,NM_006720.3;ABLIM1,synonymous_variant,p.=,ENST00000369266,;ABLIM1,synonymous_variant,p.=,ENST00000277895,NM_002313.5;ABLIM1,synonymous_variant,p.=,ENST00000369253,;ABLIM1,synonymous_variant,p.=,ENST00000428430,;ABLIM1,synonymous_variant,p.=,ENST00000440467,;ABLIM1,synonymous_variant,p.=,ENST00000392955,;ABLIM1,synonymous_variant,p.=,ENST00000369256,;ABLIM1,upstream_gene_variant,,ENST00000466400,;							LOW	1248/2337		ABLM1_HUMAN			Transcript			.	ENSP00000277895		CCDS7590.1			1	
HPS5	0	LGGM	GRCh37	11	18308229	18308229	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	35	10	.	.	ENST00000349215.3:c.2746C>G	p.Pro916Ala	p.P916A	ENST00000349215	NM_181507.1	916	Cca/Gca	0	1	1	UPI000000D7E9	0	NA	ENST00000349215		ENSG00000110756	17022		45	2.005		HGNC	p.P23A		HPS5		SNV			1				ENST00000537258	protein_coding	getma.org/?cm=var&var=hg19,11,18308229,G,C&fts=all		hmmpanther:PTHR23287:SF15,hmmpanther:PTHR23287,PIRSF_domain:PIRSF037475		P/A		C	medium	3024/4491		getma.org/?cm=msa&ty=f&p=HPS5_HUMAN&rb=773&re=972&var=P916A	deleterious(0.02)	F5GWM5_HUMAN			YES	HPS5,missense_variant,p.Pro802Ala,ENST00000396253,NM_007216.3;HPS5,missense_variant,p.Pro916Ala,ENST00000349215,NM_181507.1;HPS5,missense_variant,p.Pro802Ala,ENST00000438420,NM_181508.1;HPS5,missense_variant,p.Pro23Ala,ENST00000537258,;HPS5,missense_variant,p.Pro102Ala,ENST00000544218,;HPS5,non_coding_transcript_exon_variant,,ENST00000352460,;HPS5,downstream_gene_variant,,ENST00000543728,;HPS5,non_coding_transcript_exon_variant,,ENST00000545561,;							MODERATE	2746/3390	P916A	HPS5_HUMAN			Transcript		possibly_damaging(0.749)	.	ENSP00000265967		CCDS7836.1			1	
MMP14	0	LGGM	GRCh37	14	23315089	23315089	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	19	11	.	.	ENST00000311852.6:c.1590C>T	p.Asp530=	p.D530=	ENST00000311852	NM_004995.3	530	gaC/gaT	0	1	1	UPI0000048136	0		ENST00000311852		ENSG00000157227	7160		30			HGNC	p.D530D	rs767065741,COSM954537	MMP14	0.000124	SNV			1	0.000102		0,1	ENST00000311852	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF11857		D		T		1851/3732							YES	MMP14,synonymous_variant,p.=,ENST00000311852,NM_004995.3;MMP14,downstream_gene_variant,,ENST00000548761,;MMP14,intron_variant,,ENST00000548162,;MMP14,downstream_gene_variant,,ENST00000547596,;MMP14,downstream_gene_variant,,ENST00000547074,;					0,1		LOW	1590/1749		MMP14_HUMAN			Transcript			.	ENSP00000308208	2.47E-05	CCDS9577.1			1	
KDM5A	0	LGGM	GRCh37	12	459827	459827	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	10	12	.	.	ENST00000399788.2:c.1268C>T	p.Pro423Leu	p.P423L	ENST00000399788	NM_001042603.1	423	cCg/cTg	0	1	1	UPI0000DB2E73	0	NA	ENST00000399788		ENSG00000073614	9886	8.64E-05	22	3.295		HGNC	p.P423L	rs772550693,COSM939484,COSM939483	KDM5A		SNV						0,1,1	ENST00000399788	protein_coding	getma.org/?cm=var&var=hg19,12,459827,G,A&fts=all		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17		P/L		A	medium	1631/10763	1.50E-05	getma.org/?cm=msa&ty=f&p=KDM5A_HUMAN&rb=344&re=469&var=P423L	deleterious(0)				YES	KDM5A,missense_variant,p.Pro423Leu,ENST00000399788,NM_001042603.1;KDM5A,missense_variant,p.Pro423Leu,ENST00000382815,;KDM5A,intron_variant,,ENST00000544760,;	0.000116				0,1,1		MODERATE	1268/5073	P423L	KDM5A_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000382688	2.48E-05	CCDS41736.1			1	
PRPF4	0	LGGM	GRCh37	9	116038889	116038889	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	82	13	.	.	ENST00000374198.4:c.92A>G	p.Tyr31Cys	p.Y31C	ENST00000374198	NM_001244926.1	31	tAt/tGt	0	1	1	UPI0000132340	0	NA	ENST00000374198		ENSG00000136875	17349		95	0.895		HGNC	p.Y31C		PRPF4		SNV			1				ENST00000374198	protein_coding	getma.org/?cm=var&var=hg19,9,116038889,A,G&fts=all		hmmpanther:PTHR19846		Y/C		G	low	194/2787		getma.org/?cm=msa&ty=f&p=PRP4_HUMAN&rb=1&re=107&var=Y31C	tolerated(0.06)				YES	PRPF4,missense_variant,p.Tyr30Cys,ENST00000374199,;PRPF4,missense_variant,p.Tyr31Cys,ENST00000374198,NM_001244926.1,NM_004697.4;CDC26,upstream_gene_variant,,ENST00000374206,NM_139286.3;CDC26,upstream_gene_variant,,ENST00000490408,;PRPF4,upstream_gene_variant,,ENST00000488937,;							MODERATE	92/1569	Y31C	PRP4_HUMAN			Transcript		benign(0.412)	.	ENSP00000363313		CCDS6791.1			1	
ATP9B	0	LGGM	GRCh37	18	76886328	76886328	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	45	14	.	.	ENST00000426216.2:c.620G>A	p.Arg207His	p.R207H	ENST00000426216	NM_198531.3	207	cGt/cAt	0	1	1	UPI00002371AF	0	NA	ENST00000426216		ENSG00000166377	13541		59	3.735		HGNC	p.R207H	rs773068417	ATP9B		SNV				9.61E-05			ENST00000586366	protein_coding	getma.org/?cm=var&var=hg19,18,76886328,G,A&fts=all		hmmpanther:PTHR24092:SF50,hmmpanther:PTHR24092,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		R/H		A	high	637/4361	1.50E-05	getma.org/?cm=msa&ty=f&p=ATP9B_HUMAN&rb=185&re=449&var=R207H	deleterious(0.01)				YES	ATP9B,missense_variant,p.Arg207His,ENST00000426216,NM_198531.3;ATP9B,missense_variant,p.Arg207His,ENST00000307671,;ATP9B,missense_variant,p.Arg149His,ENST00000586672,;ATP9B,non_coding_transcript_exon_variant,,ENST00000591464,;ATP9B,missense_variant,p.Arg207His,ENST00000586366,;ATP9B,non_coding_transcript_exon_variant,,ENST00000490210,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590271,;ATP9B,non_coding_transcript_exon_variant,,ENST00000590608,;							MODERATE	620/3444	R207H	ATP9B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000398076	1.65E-05	CCDS12014.1			1	
GOLT1A	0	LGGM	GRCh37	1	204167595	204167595	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	58	14	.	.	ENST00000308302.3:c.390G>C	p.Ser130=	p.S130=	ENST00000308302	NM_198447.1	130	tcG/tcC	0	1	1	UPI000005287E	0		ENST00000308302		ENSG00000174567	24766		72			HGNC	p.S130S		GOLT1A		SNV							ENST00000308302	protein_coding			hmmpanther:PTHR21493:SF86,hmmpanther:PTHR21493		S		G		576/883							YES	GOLT1A,synonymous_variant,p.=,ENST00000308302,NM_198447.1;KISS1,upstream_gene_variant,,ENST00000367194,NM_002256.3;GOLT1A,downstream_gene_variant,,ENST00000475517,;							LOW	390/399		GOT1A_HUMAN			Transcript			.	ENSP00000308535		CCDS1443.1			1	
ZC2HC1A	0	LGGM	GRCh37	8	79601609	79601609	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	91	15	.	.	ENST00000263849.4:c.504+1G>T		p.X168_splice	ENST00000263849	NM_016010.2			0	1	1	UPI000013D475	0		ENST00000263849		ENSG00000104427	24277		106			HGNC	-		ZC2HC1A		SNV							ENST00000263849	protein_coding							T		-/3352							YES	ZC2HC1A,splice_donor_variant,,ENST00000263849,NM_016010.2;ZC2HC1A,splice_donor_variant,,ENST00000521176,;IL7,intron_variant,,ENST00000523959,;							HIGH	504/978		ZC21A_HUMAN			Transcript			.	ENSP00000263849		CCDS6223.1			1	
GPRASP1	0	LGGM	GRCh37	X	101911726	101911726	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	17	15	.	.	ENST00000537097.1:c.2885A>G	p.Glu962Gly	p.E962G	ENST00000537097	NM_001184727.1	962	gAa/gGa	0	1		UPI0000073B80	0	NA	ENST00000361600		ENSG00000198932	24834		32	0.895		HGNC	p.E962G		GPRASP1		SNV							ENST00000444152	protein_coding	getma.org/?cm=var&var=hg19,X,101911726,A,G&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF22		E/G		G	low	3686/5971		getma.org/?cm=msa&ty=f&p=GASP1_HUMAN&rb=931&re=1119&var=E962G	tolerated(0.22)					GPRASP1,missense_variant,p.Glu962Gly,ENST00000537097,NM_001184727.1;GPRASP1,missense_variant,p.Glu962Gly,ENST00000361600,NM_014710.4;GPRASP1,missense_variant,p.Glu962Gly,ENST00000415986,NM_001099410.1;GPRASP1,missense_variant,p.Glu962Gly,ENST00000444152,NM_001099411.1;RP4-769N13.7,intron_variant,,ENST00000602441,;RP4-769N13.6,intron_variant,,ENST00000486740,;RP4-769N13.6,intron_variant,,ENST00000602366,;RP4-769N13.6,intron_variant,,ENST00000602463,;GPRASP1,downstream_gene_variant,,ENST00000466098,;							MODERATE	2885/4188	E962G	GASP1_HUMAN			Transcript		benign(0.027)	.	ENSP00000355146		CCDS35352.1			1	
PTK2	0	LGGM	GRCh37	8	141771291	141771291	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	234	16	.	.	ENST00000340930.3:c.1305T>C	p.Asp435=	p.D435=	ENST00000340930	NM_001199649.1	435	gaT/gaC	0	1		UPI000012A4FB	0		ENST00000521059		ENSG00000169398	9611		250			HGNC	p.D107D		PTK2		SNV							ENST00000523539	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112		D		G		1487/4405				E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN,B4DWJ1_HUMAN				PTK2,synonymous_variant,p.=,ENST00000522684,NM_153831.3;PTK2,synonymous_variant,p.=,ENST00000517887,;PTK2,synonymous_variant,p.=,ENST00000395218,;PTK2,synonymous_variant,p.=,ENST00000519419,;PTK2,synonymous_variant,p.=,ENST00000340930,NM_001199649.1;PTK2,synonymous_variant,p.=,ENST00000521059,NM_005607.4;PTK2,synonymous_variant,p.=,ENST00000519654,;PTK2,synonymous_variant,p.=,ENST00000535192,;PTK2,synonymous_variant,p.=,ENST00000519465,;PTK2,synonymous_variant,p.=,ENST00000538769,;PTK2,synonymous_variant,p.=,ENST00000523539,;PTK2,synonymous_variant,p.=,ENST00000521986,;PTK2,synonymous_variant,p.=,ENST00000519024,;PTK2,synonymous_variant,p.=,ENST00000520151,;PTK2,non_coding_transcript_exon_variant,,ENST00000523746,;PTK2,non_coding_transcript_exon_variant,,ENST00000523474,;PTK2,non_coding_transcript_exon_variant,,ENST00000519361,;PTK2,non_coding_transcript_exon_variant,,ENST00000521172,;PTK2,non_coding_transcript_exon_variant,,ENST00000520843,;PTK2,synonymous_variant,p.=,ENST00000524202,;PTK2,synonymous_variant,p.=,ENST00000521029,;PTK2,synonymous_variant,p.=,ENST00000521981,;PTK2,synonymous_variant,p.=,ENST00000523670,;PTK2,3_prime_UTR_variant,,ENST00000519993,;PTK2,non_coding_transcript_exon_variant,,ENST00000519899,;PTK2,intron_variant,,ENST00000521250,;							LOW	1305/3159		FAK1_HUMAN			Transcript			.	ENSP00000429474		CCDS6381.1			1	
PRPF39	0	LGGM	GRCh37	14	45577704	45577704	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	70	17	.	.	ENST00000355765.6:c.990A>C	p.Lys330Asn	p.K330N	ENST00000355765	NM_017922.3	330	aaA/aaC	0	1	1	UPI00015BB2D5	0	NA	ENST00000355765		ENSG00000185246	20314		87	2.27		HGNC	p.K330N		PRPF39		SNV							ENST00000355765	protein_coding	getma.org/?cm=var&var=hg19,14,45577704,A,C&fts=all		hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204,Superfamily_domains:SSF48452		K/N		C	medium	1160/2868		getma.org/?cm=msa&ty=f&p=PRP39_HUMAN&rb=201&re=400&var=K330N	deleterious(0)				YES	PRPF39,missense_variant,p.Lys330Asn,ENST00000355765,NM_017922.3;SNORD127,upstream_gene_variant,,ENST00000458892,NR_003691.1;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000557477,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;PRPF39,upstream_gene_variant,,ENST00000554785,;PRPF39,upstream_gene_variant,,ENST00000556718,;							MODERATE	990/2010	K330N	PRP39_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000348010		CCDS9682.2			1	
IGSF22	0	LGGM	GRCh37	11	18740267	18740267	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	57	17	.	.	ENST00000513874.1:c.705G>T	p.Arg235=	p.R235=	ENST00000513874	NM_173588.3	235	cgG/cgT	0	1		UPI0000DBEF33	0		ENST00000319338		ENSG00000179057	26750		74			HGNC	p.R235R		IGSF22		SNV							ENST00000319338	nonsense_mediated_decay			PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF53,Gene3D:2.60.40.10		R		A		895/3935								IGSF22,synonymous_variant,p.=,ENST00000513874,NM_173588.3;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,downstream_gene_variant,,ENST00000412229,;IGSF22,synonymous_variant,p.=,ENST00000319338,;IGSF22,non_coding_transcript_exon_variant,,ENST00000504981,;							LOW	705/2712		IGS22_HUMAN			Transcript			.	ENSP00000322422					1	
FAM129B	0	LGGM	GRCh37	9	130279277	130279277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071941	H071941N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	59	18	.	.	ENST00000373312.3:c.832A>G	p.Met278Val	p.M278V	ENST00000373312	NM_022833.2	278	Atg/Gtg	0	1	1	UPI00001592F0	0	NA	ENST00000373312		ENSG00000136830	25282		77	1.7		HGNC	p.M278V		FAM129B		SNV							ENST00000373312	protein_coding	getma.org/?cm=var&var=hg19,9,130279277,T,C&fts=all		hmmpanther:PTHR14392:SF2,hmmpanther:PTHR14392		M/V		C	low	1046/3957		getma.org/?cm=msa&ty=f&p=NIBL1_HUMAN&rb=6&re=731&var=M278V	deleterious(0.03)	Q9H6L6_HUMAN			YES	FAM129B,missense_variant,p.Met278Val,ENST00000373312,NM_022833.2;FAM129B,missense_variant,p.Met265Val,ENST00000373314,NM_001035534.1;FAM129B,intron_variant,,ENST00000468379,;FAM129B,intron_variant,,ENST00000484348,;FAM129B,intron_variant,,ENST00000478917,;FAM129B,upstream_gene_variant,,ENST00000465154,;							MODERATE	832/2241	M278V	NIBL1_HUMAN			Transcript		benign(0.03)	.	ENSP00000362409		CCDS35145.1			1	
PRPF39	0	LGGM	GRCh37	14	45577691	45577691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	69	19	.	.	ENST00000355765.6:c.977A>G	p.His326Arg	p.H326R	ENST00000355765	NM_017922.3	326	cAt/cGt	0	1	1	UPI00015BB2D5	0	NA	ENST00000355765		ENSG00000185246	20314		88	0.805		HGNC	p.H326R		PRPF39		SNV							ENST00000355765	protein_coding	getma.org/?cm=var&var=hg19,14,45577691,A,G&fts=all		hmmpanther:PTHR17204:SF21,hmmpanther:PTHR17204,Superfamily_domains:SSF48452		H/R		G	low	1147/2868		getma.org/?cm=msa&ty=f&p=PRP39_HUMAN&rb=201&re=400&var=H326R	tolerated(0.43)				YES	PRPF39,missense_variant,p.His326Arg,ENST00000355765,NM_017922.3;SNORD127,upstream_gene_variant,,ENST00000458892,NR_003691.1;PRPF39,3_prime_UTR_variant,,ENST00000554081,;PRPF39,3_prime_UTR_variant,,ENST00000424478,;PRPF39,3_prime_UTR_variant,,ENST00000554439,;PRPF39,3_prime_UTR_variant,,ENST00000554429,;PRPF39,3_prime_UTR_variant,,ENST00000557477,;PRPF39,non_coding_transcript_exon_variant,,ENST00000477626,;PRPF39,upstream_gene_variant,,ENST00000554785,;PRPF39,upstream_gene_variant,,ENST00000556718,;							MODERATE	977/2010	H326R	PRP39_HUMAN			Transcript		benign(0.07)	.	ENSP00000348010		CCDS9682.2			1	
NFIC	0	LGGM	GRCh37	19	3452573	3452573	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H071941	H071941N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	65	21	.	.	ENST00000443272.2:c.1178C>T	p.Ala393Val	p.A393V	ENST00000443272	NM_001245002.1	393	gCc/gTc	0	1	1	UPI000012FFC8	0	NA	ENST00000443272		ENSG00000141905	7786		86	2.005		HGNC	p.A393V	COSM1392371	NFIC		SNV						1	ENST00000341919	protein_coding	getma.org/?cm=var&var=hg19,19,3452573,C,T&fts=all		hmmpanther:PTHR11492,Pfam_domain:PF00859		A/V		T	medium	1229/1716		getma.org/?cm=msa&ty=f&p=NFIC_HUMAN&rb=217&re=508&var=A393V	deleterious(0.04)				YES	NFIC,missense_variant,p.Ala384Val,ENST00000589123,NM_205843.2,NM_001245005.1;NFIC,missense_variant,p.Ala360Val,ENST00000346156,;NFIC,missense_variant,p.Ala384Val,ENST00000395111,;NFIC,missense_variant,p.Ala393Val,ENST00000443272,NM_001245002.1;NFIC,missense_variant,p.Ala393Val,ENST00000341919,NM_005597.3;NFIC,missense_variant,p.Ala393Val,ENST00000590282,NM_001245004.1;NFIC,missense_variant,p.Ala360Val,ENST00000586919,;NFIC,upstream_gene_variant,,ENST00000589164,;NFIC,non_coding_transcript_exon_variant,,ENST00000589537,;NFIC,upstream_gene_variant,,ENST00000589969,;					1		MODERATE	1178/1527	A393V	NFIC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000396843		CCDS59330.1			1	
UBR5	0	LGGM	GRCh37	8	103317429	103317429	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H071941	H071941N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	146	22	.	.	ENST00000520539.1:c.2711A>G	p.Asn904Ser	p.N904S	ENST00000520539	NM_015902.5	904	aAt/aGt	0	1	1	UPI0000129BCB	0	NA	ENST00000520539		ENSG00000104517	16806		168	-0.55		HGNC	p.N904S		UBR5		SNV							ENST00000220959	protein_coding	getma.org/?cm=var&var=hg19,8,103317429,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77		N/S		C	neutral	3318/10297		getma.org/?cm=msa&ty=f&p=UBR5_HUMAN&rb=831&re=1030&var=N904S	tolerated(0.22)	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN			YES	UBR5,missense_variant,p.Asn904Ser,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Asn904Ser,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Asn898Ser,ENST00000521922,;UBR5,missense_variant,p.Asn20Ser,ENST00000519365,;UBR5,upstream_gene_variant,,ENST00000520898,;							MODERATE	2711/8400	N904S	UBR5_HUMAN			Transcript		benign(0.01)	.	ENSP00000429084		CCDS34933.1			1	
GPR98	0	LGGM	GRCh37	5	89943444	89943444	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H071941	H071941N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	143	28	.	.	ENST00000405460.2:c.3152A>T	p.Asp1051Val	p.D1051V	ENST00000405460	NM_032119.3	1051	gAt/gTt	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=993&to=1093&var=D1051V	ENST00000405460		ENSG00000164199	17416		171	3.465		HGNC	p.D1051V		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89943444,A,T&fts=all		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072		D/V		T	medium	3248/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=993&re=1093&var=D1051V					YES	GPR98,missense_variant,p.Asp1051Val,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Asp640Val,ENST00000504142,;GPR98,downstream_gene_variant,,ENST00000512205,;							MODERATE	3152/18921	D1051V	GPR98_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000384582		CCDS47246.1			1	
ANK1	0	LGGM	GRCh37	8	41574504	41574504	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H071941	H071941N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H071941N.bam, H071941T.bam	Illumina HiSeq	48	100	.	.	ENST00000265709.8:c.1470C>G	p.Leu490=	p.L490=	ENST00000265709	NM_001142446.1	490	ctC/ctG	0	1		UPI000013DF99	0		ENST00000347528		ENSG00000029534	492		148			HGNC	p.L457L	COSM377302	ANK1		SNV			1			1	ENST00000289734	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		C		1455/8237				Q9UMG4_HUMAN				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;					1		LOW	1371/5646		ANK1_HUMAN			Transcript			.	ENSP00000339620		CCDS6119.1			1	
PRICKLE3	0	LGGM	GRCh37	X	49034505	49034505	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	9	2	.	.	ENST00000376317.3:c.792G>T	p.Thr264=	p.T264=	ENST00000376317	NM_006150.3	264	acG/acT	0	1	1	UPI000004B120	0		ENST00000376317		ENSG00000012211	6645		11			HGNC	p.T196T		PRICKLE3		SNV							ENST00000540849	protein_coding			PROSITE_profiles:PS50023,hmmpanther:PTHR24218,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716		T		A		887/2814				F5H4N2_HUMAN			YES	PRICKLE3,splice_donor_variant,,ENST00000538114,;PRICKLE3,synonymous_variant,p.=,ENST00000376317,NM_006150.3;PRICKLE3,synonymous_variant,p.=,ENST00000536904,;PRICKLE3,synonymous_variant,p.=,ENST00000540849,;PRICKLE3,synonymous_variant,p.=,ENST00000453382,;PRICKLE3,synonymous_variant,p.=,ENST00000432913,;PLP2,downstream_gene_variant,,ENST00000376327,NM_002668.2;PRICKLE3,downstream_gene_variant,,ENST00000376310,;PLP2,downstream_gene_variant,,ENST00000376322,;							LOW	792/1848		PRIC3_HUMAN			Transcript			.	ENSP00000365494		CCDS14320.1			1	
EDEM3	0	LGGM	GRCh37	1	184718692	184718692	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	13	3	.	.	ENST00000318130.8:c.193G>T	p.Gly65Cys	p.G65C	ENST00000318130	NM_025191.3	65	Ggt/Tgt	0	1	1	UPI0000470A2B	0	getma.org/pdb.php?prot=EDEM3_HUMAN&from=59&to=498&var=G65C	ENST00000318130		ENSG00000116406	16787		16	2.165		HGNC	p.G22C		EDEM3		SNV							ENST00000367512	protein_coding	getma.org/?cm=var&var=hg19,1,184718692,C,A&fts=all		Gene3D:1.50.10.50,Pfam_domain:PF01532,Prints_domain:PR00747,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF30,Superfamily_domains:SSF48225		G/C		A	medium	460/6898		getma.org/?cm=msa&ty=f&p=EDEM3_HUMAN&rb=59&re=498&var=G65C	deleterious(0.02)	Q7L2Y5_HUMAN,H0Y498_HUMAN			YES	EDEM3,missense_variant,p.Gly65Cys,ENST00000318130,NM_025191.3;EDEM3,missense_variant,p.Gly22Cys,ENST00000367512,;EDEM3,intron_variant,,ENST00000474725,;							MODERATE	193/2799	G65C	EDEM3_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000318147		CCDS1363.2			1	
NPC1	0	LGGM	GRCh37	18	21124353	21124353	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	3	.	.	ENST00000269228.5:c.2085G>T	p.Leu695=	p.L695=	ENST00000269228	NM_000271.4	695	ctG/ctT	0	1	1	UPI000013D80F	0		ENST00000269228		ENSG00000141458	7897		32			HGNC	p.L695L		NPC1		SNV			1				ENST00000269228	protein_coding			Gene3D:2j8sB01,Pfam_domain:PF12349,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00917,Transmembrane_helices:TMhelix		L		A		2640/5157							YES	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,,ENST00000591075,;NPC1,upstream_gene_variant,,ENST00000586718,;							LOW	2085/3837		NPC1_HUMAN			Transcript			.	ENSP00000269228		CCDS11878.1			1	
ERBB3	0	LGGM	GRCh37	12	56495046	56495046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	23	3	.	.	ENST00000267101.3:c.3403C>A	p.Gln1135Lys	p.Q1135K	ENST00000267101	NM_001982.3	1135	Cag/Aag	0	1	1	UPI000012A113	0	NA	ENST00000267101		ENSG00000065361	3431		26	0.975		HGNC	p.Q376K		ERBB3		SNV			1				ENST00000553131	protein_coding	getma.org/?cm=var&var=hg19,12,56495046,C,A&fts=all		PIRSF_domain:PIRSF000619		Q/K		A	low	3843/5919		getma.org/?cm=msa&ty=f&p=ERBB3_HUMAN&rb=1015&re=1340&var=Q1135K	tolerated(0.06)	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN			YES	ERBB3,missense_variant,p.Gln1135Lys,ENST00000267101,NM_001982.3;ERBB3,missense_variant,p.Gln1076Lys,ENST00000415288,;ERBB3,missense_variant,p.Gln255Lys,ENST00000549832,;ERBB3,missense_variant,p.Gln376Lys,ENST00000553131,;ERBB3,missense_variant,p.Gln442Lys,ENST00000550070,;ERBB3,missense_variant,p.Gln492Lys,ENST00000450146,;PA2G4,upstream_gene_variant,,ENST00000303305,NM_006191.2;PA2G4,upstream_gene_variant,,ENST00000552766,;PA2G4,upstream_gene_variant,,ENST00000551061,;PA2G4,upstream_gene_variant,,ENST00000553057,;RP11-603J24.9,upstream_gene_variant,,ENST00000548861,;RP11-603J24.17,downstream_gene_variant,,ENST00000548595,;ERBB3,3_prime_UTR_variant,,ENST00000551085,;ERBB3,3_prime_UTR_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000548709,;ERBB3,downstream_gene_variant,,ENST00000552691,;							MODERATE	3403/4029	Q1135K	ERBB3_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000267101		CCDS31833.1			1	
HECTD1	0	LGGM	GRCh37	14	31641112	31641112	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	36	3	.	.	ENST00000399332.1:c.1287A>G	p.Ser429=	p.S429=	ENST00000399332	NM_015382.2	429	tcA/tcG	0	1	1	UPI0000E8AC98	0		ENST00000399332		ENSG00000092148	20157		39			HGNC	p.S429S	COSM4050483	HECTD1		SNV						1	ENST00000399332	protein_coding			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		S		C		1776/9134				G3V4V5_HUMAN			YES	HECTD1,synonymous_variant,p.=,ENST00000399332,NM_015382.2;HECTD1,synonymous_variant,p.=,ENST00000553700,;HECTD1,synonymous_variant,p.=,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000553957,;HECTD1,downstream_gene_variant,,ENST00000554471,;					1		LOW	1287/7833		HECD1_HUMAN			Transcript			.	ENSP00000382269		CCDS41939.1			1	
CTC-435M10.3	0	LGGM	GRCh37	19	41884356	41884356	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	33	3	.	.	ENST00000392002.2:c.142C>T	p.Gln48Ter	p.Q48*	ENST00000392002	NM_001098821.1	48	Cag/Tag	0	1		UPI0000D617AD	0	NA	ENST00000540732		ENSG00000255730			36	0		Clone_based_vega_gene	p.Q48X		CTC-435M10.3		SNV							ENST00000537354	protein_coding	getma.org/?cm=var&var=hg19,19,41884356,C,T&fts=all		hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF1		Q/*		T	NA	269/1960		NA		Q9UMB3_HUMAN,F5H5P2_HUMAN			YES	CTC-435M10.3,stop_gained,p.Gln48Ter,ENST00000540732,;TMEM91,stop_gained,p.Gln48Ter,ENST00000539627,;BCKDHA,stop_gained,p.Gln48Ter,ENST00000595085,;TMEM91,stop_gained,p.Gln48Ter,ENST00000542945,;TMEM91,stop_gained,p.Gln48Ter,ENST00000392002,NM_001098821.1;TMEM91,stop_gained,p.Gln48Ter,ENST00000356385,NM_001042595.2;TMEM91,stop_gained,p.Gln48Ter,ENST00000436170,NM_001098822.1,NM_001098824.1,NM_001098823.1;TMEM91,stop_gained,p.Gln105Ter,ENST00000604123,;TMEM91,stop_gained,p.Gln48Ter,ENST00000544232,;TMEM91,stop_gained,p.Gln48Ter,ENST00000447302,;TMEM91,stop_gained,p.Gln48Ter,ENST00000413014,NM_001098825.1;TMEM91,stop_gained,p.Gln48Ter,ENST00000342187,;TMEM91,stop_gained,p.Gln48Ter,ENST00000537354,;TMEM91,stop_gained,p.Gln34Ter,ENST00000546050,;TMEM91,upstream_gene_variant,,ENST00000546362,;TMEM91,upstream_gene_variant,,ENST00000535712,;CTC-435M10.3,intron_variant,,ENST00000604424,;							HIGH	142/1440	Q48*				Transcript			.	ENSP00000443246					1	
SIPA1L1	0	LGGM	GRCh37	14	72055793	72055793	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	46	3	.	.	ENST00000555818.1:c.1204C>A	p.Gln402Lys	p.Q402K	ENST00000555818	NM_015556.1	402	Cag/Aag	0	1	1	UPI00000443CB	0	NA	ENST00000555818		ENSG00000197555	20284		49	1.355		HGNC	p.Q402K		SIPA1L1		SNV							ENST00000381232	protein_coding	getma.org/?cm=var&var=hg19,14,72055793,C,A&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10		Q/K		A	low	1552/7831		getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=401&re=600&var=Q402K	tolerated(0.53)	G3V4Z3_HUMAN			YES	SIPA1L1,missense_variant,p.Gln402Lys,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Gln402Lys,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Gln402Lys,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;							MODERATE	1204/5415	Q402K	SI1L1_HUMAN			Transcript		benign(0.169)	.	ENSP00000450832		CCDS9807.1			1	
PREX2	0	LGGM	GRCh37	8	69032518	69032518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	46	3	.	.	ENST00000288368.4:c.3592C>A	p.Gln1198Lys	p.Q1198K	ENST00000288368	NM_024870.2	1198	Caa/Aaa	0	1	1	UPI0000375435	0	NA	ENST00000288368		ENSG00000046889	22950		49	2.045		HGNC	p.Q1198K		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,69032518,C,A&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1		Q/K		A	medium	3869/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=1146&re=1345&var=Q1198K	deleterious(0.03)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Gln1198Lys,ENST00000288368,NM_024870.2,NM_025170.4;							MODERATE	3592/4821	Q1198K	PREX2_HUMAN			Transcript		benign(0.15)	.	ENSP00000288368		CCDS6201.1			1	
ALDH8A1	0	LGGM	GRCh37	6	135263674	135263674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	35	3	.	.	ENST00000265605.2:c.315G>T	p.Met105Ile	p.M105I	ENST00000265605	NM_022568.3	105	atG/atT	0	1	1	UPI000004F8AE	0	getma.org/pdb.php?prot=AL8A1_HUMAN&from=18&to=483&var=M105I	ENST00000265605		ENSG00000118514	15471		38	-0.735		HGNC	p.M105I		ALDH8A1		SNV							ENST00000265605	protein_coding	getma.org/?cm=var&var=hg19,6,135263674,C,A&fts=all		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF42,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720		M/I		A	neutral	384/2558		getma.org/?cm=msa&ty=f&p=AL8A1_HUMAN&rb=18&re=483&var=M105I	tolerated(0.3)				YES	ALDH8A1,start_lost,p.Met1?,ENST00000534012,;ALDH8A1,missense_variant,p.Met105Ile,ENST00000265605,NM_022568.3;ALDH8A1,missense_variant,p.Met105Ile,ENST00000367845,NM_170771.2;ALDH8A1,missense_variant,p.Met105Ile,ENST00000367847,NM_001193480.1;RP11-349J5.2,downstream_gene_variant,,ENST00000416448,;ALDH8A1,missense_variant,p.Met105Ile,ENST00000349305,;							MODERATE	315/1464	M105I	AL8A1_HUMAN			Transcript		benign(0.004)	.	ENSP00000265605		CCDS5171.1			1	
LRRC37A2	0	LGGM	GRCh37	17	44626694	44626694	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	20	3	.	.	ENST00000576629.1:c.4189T>G	p.Phe1397Val	p.F1397V	ENST00000576629		1397	Ttt/Gtt	0	1		UPI0000E59258	0	NA	ENST00000333412		ENSG00000238083	32404		23	0.77		HGNC	p.F1397V		LRRC37A2		SNV							ENST00000576629	protein_coding	getma.org/?cm=var&var=hg19,17,44626694,T,G&fts=all		hmmpanther:PTHR23045		F/V		G	neutral	4192/5177		getma.org/?cm=msa&ty=f&p=L37A2_HUMAN&rb=977&re=1698&var=F1397V	tolerated(0.32)					LRRC37A2,missense_variant,p.Phe1397Val,ENST00000576629,;LRRC37A2,missense_variant,p.Phe1397Val,ENST00000333412,NM_001006607.2;ARL17A,intron_variant,,ENST00000337845,;ARL17A,intron_variant,,ENST00000445552,NM_016632.2;ARL17A,intron_variant,,ENST00000573185,;ARL17A,intron_variant,,ENST00000329240,;ARL17A,downstream_gene_variant,,ENST00000336125,NM_001113738.1;ARL17A,downstream_gene_variant,,ENST00000570550,;LRRC37A2,non_coding_transcript_exon_variant,,ENST00000572638,;							MODERATE	4189/5103	F1397V	L37A2_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000333071		CCDS42353.1			1	
MTMR3	0	LGGM	GRCh37	22	30416869	30416869	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	4	4	.	.	ENST00000401950.2:c.3221A>C	p.Glu1074Ala	p.E1074A	ENST00000401950	NM_021090.3	1074	gAg/gCg	0	1	1	UPI0000073EF2	0	NA	ENST00000401950		ENSG00000100330	7451		8	0.975		HGNC	p.E1074A		MTMR3		SNV							ENST00000351488	protein_coding	getma.org/?cm=var&var=hg19,22,30416869,A,C&fts=all		hmmpanther:PTHR10807:SF66,hmmpanther:PTHR10807		E/A		C	low	3563/6018		getma.org/?cm=msa&ty=f&p=MTMR3_HUMAN&rb=1062&re=1113&var=E1074A	deleterious(0.04)	Q9UPM2_HUMAN,G5E953_HUMAN,C9JLU3_HUMAN			YES	MTMR3,missense_variant,p.Glu1074Ala,ENST00000333027,NM_153051.2,NM_153050.2;MTMR3,missense_variant,p.Glu1074Ala,ENST00000401950,NM_021090.3;MTMR3,missense_variant,p.Glu938Ala,ENST00000323630,;MTMR3,missense_variant,p.Glu1074Ala,ENST00000351488,;MTMR3,missense_variant,p.Glu1074Ala,ENST00000406629,;CTA-85E5.10,intron_variant,,ENST00000429350,;CTA-85E5.10,intron_variant,,ENST00000453743,;MTMR3,upstream_gene_variant,,ENST00000491251,;MTMR3,downstream_gene_variant,,ENST00000492087,;							MODERATE	3221/3597	E1074A	MTMR3_HUMAN			Transcript		possibly_damaging(0.762)	.	ENSP00000384651		CCDS13870.1			1	
TRIM49	0	LGGM	GRCh37	11	89531584	89531584	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	20	4	.	.	ENST00000329758.1:c.1073G>T	p.Cys358Phe	p.C358F	ENST00000329758	NM_020358.2	358	tGt/tTt	0	1	1	UPI000013431B	0	getma.org/pdb.php?prot=TRI49_HUMAN&from=338&to=451&var=C358F	ENST00000329758		ENSG00000168930	13431		24	3.405		HGNC	p.C281F		TRIM49		SNV							ENST00000532501	protein_coding	getma.org/?cm=var&var=hg19,11,89531584,C,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407		C/F		A	medium	1402/2163		getma.org/?cm=msa&ty=f&p=TRI49_HUMAN&rb=338&re=451&var=C358F	deleterious(0)	I1YAQ5_HUMAN			YES	TRIM49,missense_variant,p.Cys358Phe,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Cys281Phe,ENST00000532501,;							MODERATE	1073/1359	C358F	TRI49_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000327604		CCDS8287.1			1	
PISD	0	LGGM	GRCh37	22	32017752	32017752	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	19	4	.	.	ENST00000382151.2:c.339T>C	p.Phe113=	p.F113=	ENST00000382151		113	ttT/ttC	0	1		UPI0000207594	0		ENST00000439502		ENSG00000241878	8999		23			HGNC	p.F113F		PISD		SNV							ENST00000266095	protein_coding			hmmpanther:PTHR10067		F		G		665/1963								PISD,synonymous_variant,p.=,ENST00000382151,;PISD,synonymous_variant,p.=,ENST00000266095,NM_014338.3;PISD,synonymous_variant,p.=,ENST00000397500,;PISD,synonymous_variant,p.=,ENST00000439502,;PISD,synonymous_variant,p.=,ENST00000336566,;PISD,synonymous_variant,p.=,ENST00000435900,;PISD,synonymous_variant,p.=,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,;							LOW	441/1230		PISD_HUMAN			Transcript			.	ENSP00000391739					1	
TBX5	0	LGGM	GRCh37	12	114804028	114804028	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	52	4	.	.	ENST00000310346.4:c.924C>G	p.Pro308=	p.P308=	ENST00000310346	NM_000192.3	308	ccC/ccG	0	1	1	UPI0000136AA2	0		ENST00000310346		ENSG00000089225	11604		56			HGNC	p.P308P		TBX5		SNV			1				ENST00000310346	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28		P		C		1591/3825							YES	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,;							LOW	924/1557		TBX5_HUMAN			Transcript			.	ENSP00000309913		CCDS9173.1			1	
SMARCA2	0	LGGM	GRCh37	9	2115850	2115850	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	6	4	.	.	ENST00000382203.1:c.3485G>T	p.Arg1162Leu	p.R1162L	ENST00000382203		1162	cGc/cTc	0	1		UPI00001AE8EB	0	getma.org/pdb.php?prot=SMCA2_HUMAN&from=1084&to=1164&var=R1162L	ENST00000349721		ENSG00000080503	11098		10	4.54		HGNC	p.R1162L	COSM1624853,COSM1624852	SMARCA2		SNV			1			1,1	ENST00000382203	protein_coding	getma.org/?cm=var&var=hg19,9,2115850,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,SMART_domains:SM00490,Superfamily_domains:SSF52540		R/L		T	high	3584/5757		getma.org/?cm=msa&ty=f&p=SMCA2_HUMAN&rb=1084&re=1164&var=R1162L		Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN				SMARCA2,missense_variant,p.Arg1162Leu,ENST00000382203,;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000349721,NM_003070.3;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000357248,NM_139045.2;SMARCA2,missense_variant,p.Arg1162Leu,ENST00000382194,;					1,1		MODERATE	3485/4773	R1162L	SMCA2_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000265773		CCDS34977.1			1	
HERC2	0	LGGM	GRCh37	15	28566511	28566511	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	16	5	.	.	ENST00000261609.7:c.69A>G	p.Ile23Met	p.I23M	ENST00000261609	NM_004667.5	23	atA/atG	0	1	1	UPI00004578F7	0	NA	ENST00000261609		ENSG00000128731	4868		21	0.69		HGNC	p.I23M		HERC2		SNV			1				ENST00000564734	protein_coding	getma.org/?cm=var&var=hg19,15,28566511,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		I/M		C	neutral	178/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=1&re=418&var=I23M					YES	HERC2,missense_variant,p.Ile23Met,ENST00000261609,NM_004667.5;HERC2,non_coding_transcript_exon_variant,,ENST00000563945,;HERC2,missense_variant,p.Ile23Met,ENST00000564734,;							MODERATE	69/14505	I23M	HERC2_HUMAN			Transcript		benign(0.021)	.	ENSP00000261609		CCDS10021.1			1	
CHD9	0	LGGM	GRCh37	16	53320178	53320178	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	74	5	.	.	ENST00000566029.1:c.5112A>G	p.Leu1704=	p.L1704=	ENST00000566029		1704	ttA/ttG	0	1		UPI0000E02AC8	0		ENST00000398510		ENSG00000177200	25701		79			HGNC	p.L1704L		CHD9		SNV							ENST00000566029	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48		L		G		5199/11337				H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,synonymous_variant,p.=,ENST00000566029,;CHD9,synonymous_variant,p.=,ENST00000564845,;CHD9,synonymous_variant,p.=,ENST00000447540,NM_025134.4;CHD9,synonymous_variant,p.=,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;							LOW	5112/8694		CHD9_HUMAN			Transcript			.	ENSP00000381522					1	
NHSL1	0	LGGM	GRCh37	6	138751809	138751809	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	9	5	.	.	ENST00000427025.2:c.3685C>G	p.Arg1229Gly	p.R1229G	ENST00000427025	NM_020464.1	1229	Cga/Gga	0	1	1	UPI0001750345	0	NA	ENST00000427025		ENSG00000135540	21021		14	0.895		HGNC	p.R1229G		NHSL1		SNV							ENST00000427025	protein_coding	getma.org/?cm=var&var=hg19,6,138751809,G,C&fts=all		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3		R/G		C	low	4314/7500		getma.org/?cm=msa&ty=f&p=NHSL1_HUMAN&rb=921&re=1329&var=R1229G	tolerated(0.17)	B4DS58_HUMAN			YES	NHSL1,missense_variant,p.Arg1229Gly,ENST00000427025,NM_020464.1;NHSL1,missense_variant,p.Arg1225Gly,ENST00000343505,NM_001144060.1;NHSL1,downstream_gene_variant,,ENST00000342260,;MIR3145,downstream_gene_variant,,ENST00000580727,;							MODERATE	3685/4833	R1229G	NHSL1_HUMAN			Transcript		benign(0)	.	ENSP00000394546		CCDS55063.1			1	
CENPE	0	LGGM	GRCh37	4	104054874	104054874	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	15	5	.	.	ENST00000265148.3:c.6698A>G	p.Gln2233Arg	p.Q2233R	ENST00000265148	NM_001813.2	2233	cAg/cGg	0	1	1	UPI000020B28A	0	NA	ENST00000265148		ENSG00000138778	1856		20	1.7		HGNC	p.Q2233R		CENPE		SNV			1				ENST00000265148	protein_coding	getma.org/?cm=var&var=hg19,4,104054874,T,C&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		Q/R		C	low	6788/8612		getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=2061&re=2700&var=Q2233R		D6RBW0_HUMAN			YES	CENPE,missense_variant,p.Gln2233Arg,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Gln2112Arg,ENST00000380026,NM_001286734.1;							MODERATE	6698/8106	Q2233R	CENPE_HUMAN			Transcript		benign(0.002)	.	ENSP00000265148		CCDS34042.1			1	
PITPNM1	0	LGGM	GRCh37	11	67265034	67265034	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	17	6	.	.	ENST00000356404.3:c.1899C>T	p.Pro633=	p.P633=	ENST00000356404	NM_001130848.1	633	ccC/ccT	0	1	1	UPI00001FAD31	0		ENST00000356404		ENSG00000110697	9003		23			HGNC	p.P633P	rs777175085	PITPNM1		SNV				9.83E-05			ENST00000534749	protein_coding			hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40		P		A		2125/4225				E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN			YES	PITPNM1,synonymous_variant,p.=,ENST00000356404,NM_001130848.1,NM_004910.2;PITPNM1,synonymous_variant,p.=,ENST00000436757,;PITPNM1,synonymous_variant,p.=,ENST00000534749,;PITPNM1,downstream_gene_variant,,ENST00000528559,;PITPNM1,downstream_gene_variant,,ENST00000533391,;PITPNM1,downstream_gene_variant,,ENST00000524901,;PITPNM1,downstream_gene_variant,,ENST00000532703,;PITPNM1,upstream_gene_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000529203,;PITPNM1,downstream_gene_variant,,ENST00000530381,;PITPNM1,upstream_gene_variant,,ENST00000526602,;PITPNM1,downstream_gene_variant,,ENST00000527527,;PITPNM1,upstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000525521,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;							LOW	1899/3735		PITM1_HUMAN			Transcript			.	ENSP00000348772	8.24E-06	CCDS31620.1			1	
NLRP9	0	LGGM	GRCh37	19	56223172	56223172	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	8	6	.	.	ENST00000332836.2:c.2837T>A	p.Met946Lys	p.M946K	ENST00000332836	NM_176820.2	946	aTg/aAg	0	1	1	UPI00001B6B39	0	getma.org/pdb.php?prot=NALP9_HUMAN&from=882&to=991&var=M946K	ENST00000332836		ENSG00000185792	22941		14	-0.41		HGNC	p.M946K		NLRP9		SNV							ENST00000332836	protein_coding	getma.org/?cm=var&var=hg19,19,56223172,A,T&fts=all		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		M/K		T	neutral	2865/3484		getma.org/?cm=msa&ty=f&p=NALP9_HUMAN&rb=882&re=991&var=M946K	deleterious(0.03)				YES	NLRP9,missense_variant,p.Met946Lys,ENST00000332836,NM_176820.2;NLRP9,missense_variant,p.Met946Lys,ENST00000590200,;EPN1,downstream_gene_variant,,ENST00000589704,;CTD-2611O12.7,downstream_gene_variant,,ENST00000597680,;CTD-2611O12.8,downstream_gene_variant,,ENST00000596293,;CTD-2611O12.6,downstream_gene_variant,,ENST00000600582,;CTD-2611O12.6,downstream_gene_variant,,ENST00000596381,;CTD-2611O12.6,downstream_gene_variant,,ENST00000597650,;							MODERATE	2837/2976	M946K	NALP9_HUMAN			Transcript		benign(0.002)	.	ENSP00000331857		CCDS12934.1			1	
OR2T6	0	LGGM	GRCh37	1	248551329	248551329	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	42	6	.	.	ENST00000355728.2:c.420C>A	p.Val140=	p.V140=	ENST00000355728	NM_001005471.1	140	gtC/gtA	0	1	1	UPI0000199147	0		ENST00000355728		ENSG00000198104	15018		48			HGNC	p.V140V		OR2T6		SNV							ENST00000355728	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		V		A		420/927							YES	OR2T6,synonymous_variant,p.=,ENST00000355728,NM_001005471.1;							LOW	420/927		OR2T6_HUMAN			Transcript			.	ENSP00000347965		CCDS31114.1			1	
PXDN	0	LGGM	GRCh37	2	1653193	1653193	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	10	6	.	.	ENST00000252804.4:c.2359T>C	p.Tyr787His	p.Y787H	ENST00000252804	NM_012293.1	787	Tac/Cac	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=741&to=1289&var=Y787H	ENST00000252804		ENSG00000130508	14966		16	1.14		HGNC	p.Y787H		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1653193,A,G&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		Y/H		G	low	2410/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=741&re=1289&var=Y787H	tolerated(0.17)				YES	PXDN,missense_variant,p.Tyr787His,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;							MODERATE	2359/4440	Y787H	PXDN_HUMAN			Transcript		benign(0.049)	.	ENSP00000252804		CCDS46221.1			1	
SMYD1	0	LGGM	GRCh37	2	88387477	88387477	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	5	6	.	.	ENST00000419482.2:c.411G>A	p.Glu137=	p.E137=	ENST00000419482	NM_198274.3	137	gaG/gaA	0	1	1	UPI000006EB68	0		ENST00000419482		ENSG00000115593	20986		11			HGNC	p.E137E		SMYD1		SNV							ENST00000444564	protein_coding			Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF16,SMART_domains:SM00317,Superfamily_domains:SSF82199		E		A		496/4433				Q5GJ33_HUMAN			YES	SMYD1,synonymous_variant,p.=,ENST00000419482,NM_198274.3;SMYD1,synonymous_variant,p.=,ENST00000444564,;SMYD1,intron_variant,,ENST00000438570,;SMYD1,non_coding_transcript_exon_variant,,ENST00000468008,;							LOW	411/1473		SMYD1_HUMAN			Transcript			.	ENSP00000393453		CCDS33240.1			1	
FAM109A	0	LGGM	GRCh37	12	111800532	111800532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	7	7	.	.	ENST00000361483.3:c.739G>A	p.Glu247Lys	p.E247K	ENST00000361483	NM_001177996.1	247	Gag/Aag	0	1		UPI000006D1F4	0	NA	ENST00000547838		ENSG00000198324	26509		14	1.73		HGNC	p.E234K		FAM109A		SNV							ENST00000547838	protein_coding	getma.org/?cm=var&var=hg19,12,111800532,C,T&fts=all		hmmpanther:PTHR22902,hmmpanther:PTHR22902:SF14		E/K		T	low	798/2846		getma.org/?cm=msa&ty=f&p=SESQ1_HUMAN&rb=135&re=247&var=E234K	deleterious(0)	F8W0V2_HUMAN,F8VZK7_HUMAN,B4DRN3_HUMAN				FAM109A,missense_variant,p.Glu247Lys,ENST00000361483,NM_001177996.1;FAM109A,missense_variant,p.Glu234Lys,ENST00000392658,NM_001177997.1,NM_144671.4;FAM109A,missense_variant,p.Glu234Lys,ENST00000547838,;FAM109A,missense_variant,p.Glu234Lys,ENST00000548163,;FAM109A,synonymous_variant,p.=,ENST00000450786,;FAM109A,downstream_gene_variant,,ENST00000549321,;FAM109A,downstream_gene_variant,,ENST00000547710,;							MODERATE	700/750	E234K	SESQ1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000447353		CCDS9152.1			1	
NYAP1	0	LGGM	GRCh37	7	100087130	100087130	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	19	7	.	.	ENST00000300179.2:c.1786G>C	p.Asp596His	p.D596H	ENST00000300179	NM_173564.3	596	Gat/Cat	0	1	1	UPI00001C0A2E	0	NA	ENST00000300179		ENSG00000166924	22009		26	0		HGNC	p.D596H		NYAP1		SNV							ENST00000423930	protein_coding	getma.org/?cm=var&var=hg19,7,100087130,G,C&fts=all		Pfam_domain:PF15452,hmmpanther:PTHR22633,hmmpanther:PTHR22633:SF2		D/H		C	neutral	1945/3581		getma.org/?cm=msa&ty=f&p=NYAP1_HUMAN&rb=401&re=600&var=D596H	tolerated(0.1)				YES	NYAP1,missense_variant,p.Asp596His,ENST00000423930,;NYAP1,missense_variant,p.Asp596His,ENST00000300179,NM_173564.3;NYAP1,missense_variant,p.Asp539His,ENST00000454988,;NYAP1,upstream_gene_variant,,ENST00000496985,;NYAP1,upstream_gene_variant,,ENST00000489641,;							MODERATE	1786/2526	D596H	NYAP1_HUMAN			Transcript		benign(0.072)	.	ENSP00000300179		CCDS5696.1			1	
ALB	0	LGGM	GRCh37	4	74282051	74282051	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	18	8	.	.	ENST00000295897.4:c.1270G>A	p.Glu424Lys	p.E424K	ENST00000295897	NM_000477.5	424	Gag/Aag	0	1	1	UPI000002C1AC	0	getma.org/pdb.php?prot=ALBU_HUMAN&from=412&to=592&var=E424K	ENST00000295897		ENSG00000163631	399		26	1.685		HGNC	p.E274K		ALB		SNV			1				ENST00000503124	protein_coding	getma.org/?cm=var&var=hg19,4,74282051,G,A&fts=all		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		E/K		A	low	1359/2263		getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=412&re=592&var=E424K	deleterious(0.01)				YES	ALB,missense_variant,p.Glu424Lys,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Glu424Lys,ENST00000509063,;ALB,missense_variant,p.Glu274Lys,ENST00000503124,;ALB,missense_variant,p.Glu309Lys,ENST00000401494,;ALB,missense_variant,p.Glu269Lys,ENST00000511370,;ALB,missense_variant,p.Glu232Lys,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,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000508932,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;							MODERATE	1270/1830	E424K	ALBU_HUMAN			Transcript		benign(0.414)	.	ENSP00000295897		CCDS3555.1			1	
UTP3	0	LGGM	GRCh37	4	71554721	71554721	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	6	8	.	.	ENST00000254803.2:c.327T>C	p.Asp109=	p.D109=	ENST00000254803	NM_020368.2	109	gaT/gaC	0	1	1	UPI0000073D63	0		ENST00000254803		ENSG00000132467	24477		14			HGNC	p.D109D		UTP3		SNV							ENST00000254803	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR13237,hmmpanther:PTHR13237:SF8		D		C		526/2072							YES	UTP3,synonymous_variant,p.=,ENST00000254803,NM_020368.2;ENAM,downstream_gene_variant,,ENST00000472903,;							LOW	327/1440		SAS10_HUMAN			Transcript			.	ENSP00000254803		CCDS3546.1			1	
TOLLIP	0	LGGM	GRCh37	11	1316923	1316923	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	14	8	.	.	ENST00000317204.6:c.135C>T	p.Tyr45=	p.Y45=	ENST00000317204	NM_019009.3	45	taC/taT	0	1	1	UPI0000035D9F	0		ENST00000317204		ENSG00000078902	16476	8.81E-05	22			HGNC	p.Y45Y	rs368821055	TOLLIP	6.49E-05	SNV	A:0						ENST00000525159	protein_coding			hmmpanther:PTHR16461,hmmpanther:PTHR16461:SF5		Y	A:0.0001	A		259/3617	0.000142			Q6FIE9_HUMAN,B3KXC6_HUMAN			YES	TOLLIP,synonymous_variant,p.=,ENST00000317204,NM_019009.3;TOLLIP,synonymous_variant,p.=,ENST00000525159,;TOLLIP,synonymous_variant,p.=,ENST00000263646,;TOLLIP,synonymous_variant,p.=,ENST00000527938,;TOLLIP,5_prime_UTR_variant,,ENST00000527886,;TOLLIP,intron_variant,,ENST00000542915,;TOLLIP,intron_variant,,ENST00000530541,;TOLLIP,non_coding_transcript_exon_variant,,ENST00000527638,;TOLLIP,upstream_gene_variant,,ENST00000528719,;TOLLIP,downstream_gene_variant,,ENST00000527085,;TOLLIP,downstream_gene_variant,,ENST00000530821,;TOLLIP,non_coding_transcript_exon_variant,,ENST00000527746,;TOLLIP,non_coding_transcript_exon_variant,,ENST00000532551,;TOLLIP,intron_variant,,ENST00000530506,;							LOW	135/825		TOLIP_HUMAN			Transcript			.	ENSP00000314733	9.08E-05	CCDS7723.1			1	
NMT1	0	LGGM	GRCh37	17	43138729	43138729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	11	8	.	.	ENST00000592782.1:c.32C>A	p.Pro11Gln	p.P11Q	ENST00000592782		11	cCg/cAg	0	1		UPI0000130275	0	NA	ENST00000258960		ENSG00000136448	7857		19	-0.115		HGNC	p.P11Q		NMT1		SNV							ENST00000258960	protein_coding	getma.org/?cm=var&var=hg19,17,43138729,C,A&fts=all		hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF7		P/Q		A	neutral	50/4879		getma.org/?cm=msa&ty=f&p=NMT1_HUMAN&rb=1&re=134&var=P11Q	tolerated_low_confidence(0.71)	Q9Y465_HUMAN,Q96HI4_HUMAN,K7EN82_HUMAN				NMT1,missense_variant,p.Pro11Gln,ENST00000592782,;NMT1,missense_variant,p.Pro11Gln,ENST00000258960,NM_021079.3;DCAKD,upstream_gene_variant,,ENST00000342350,NM_024819.4,NM_001288654.1;DCAKD,upstream_gene_variant,,ENST00000310604,;NMT1,upstream_gene_variant,,ENST00000592654,;NMT1,non_coding_transcript_exon_variant,,ENST00000590114,;NMT1,non_coding_transcript_exon_variant,,ENST00000588975,;NMT1,missense_variant,p.Pro11Gln,ENST00000543908,;NMT1,missense_variant,p.Pro10Gln,ENST00000585561,;							MODERATE	32/1491	P11Q	NMT1_HUMAN			Transcript		benign(0.013)	.	ENSP00000258960		CCDS11494.1			1	
GRTP1	0	LGGM	GRCh37	13	114009749	114009749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	8	.	.	ENST00000375431.4:c.229G>T	p.Val77Phe	p.V77F	ENST00000375431	NM_024719.2	77	Gtc/Ttc	0	1	1	UPI00003E2A97	0	getma.org/pdb.php?prot=GRTP1_HUMAN&from=71&to=278&var=V77F	ENST00000375431		ENSG00000139835	20310		32	2.845		HGNC	p.V77F		GRTP1		SNV							ENST00000375431	protein_coding	getma.org/?cm=var&var=hg19,13,114009749,C,A&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF232,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		V/F		A	medium	304/1384		getma.org/?cm=msa&ty=f&p=GRTP1_HUMAN&rb=71&re=278&var=V77F	deleterious(0)				YES	GRTP1,missense_variant,p.Val77Phe,ENST00000375430,NM_001286732.1;GRTP1,missense_variant,p.Val77Phe,ENST00000375431,NM_024719.2;GRTP1,5_prime_UTR_variant,,ENST00000326039,;GRTP1-AS1,non_coding_transcript_exon_variant,,ENST00000419199,;GRTP1-AS1,intron_variant,,ENST00000423246,;GRTP1,downstream_gene_variant,,ENST00000476439,;							MODERATE	229/1011	V77F	GRTP1_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000364580		CCDS9534.2			1	
IFT74	0	LGGM	GRCh37	9	27029042	27029042	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	33	8	.	.	ENST00000443698.1:c.994A>T	p.Lys332Ter	p.K332*	ENST00000443698	NM_001099222.1	332	Aag/Tag	0	1		UPI000004B286	0	NA	ENST00000380062		ENSG00000096872	21424		41	0		HGNC	p.K332X		IFT74		SNV							ENST00000429045	protein_coding	getma.org/?cm=var&var=hg19,9,27029042,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31432,hmmpanther:PTHR31432:SF0		K/*		T	NA	1157/2160		NA		E5RH29_HUMAN,E5RGX6_HUMAN,A0PJM7_HUMAN				IFT74,stop_gained,p.Lys332Ter,ENST00000443698,NM_001099222.1;IFT74,stop_gained,p.Lys332Ter,ENST00000380062,NM_025103.2;IFT74,stop_gained,p.Lys332Ter,ENST00000433700,NM_001099223.1;IFT74,stop_gained,p.Lys332Ter,ENST00000429045,NM_001099224.1;IFT74,non_coding_transcript_exon_variant,,ENST00000482986,;							HIGH	994/1803	K332*	IFT74_HUMAN			Transcript			.	ENSP00000369402		CCDS43793.1			1	
CSMD3	0	LGGM	GRCh37	8	113275879	113275879	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	16	8	.	.	ENST00000297405.5:c.9851C>T	p.Pro3284Leu	p.P3284L	ENST00000297405	NM_198123.1	3284	cCg/cTg	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=3233&to=3286&var=P3284L	ENST00000297405		ENSG00000164796	19291		24	4.25		HGNC	p.P3244L	rs779849497,COSM1154901	CSMD3	6.24E-05	SNV						0,1	ENST00000343508	protein_coding	getma.org/?cm=var&var=hg19,8,113275879,G,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535		P/L		A	high	10096/13212	1.54E-05	getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=3233&re=3286&var=P3284L	deleterious(0)				YES	CSMD3,missense_variant,p.Pro3284Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Pro3244Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Pro3214Leu,ENST00000352409,;CSMD3,missense_variant,p.Pro3115Leu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Pro2554Leu,ENST00000339701,;					0,1		MODERATE	9851/11124	P3284L	CSMD3_HUMAN	0.000153		Transcript		probably_damaging(0.992)	.	ENSP00000297405	2.47E-05	CCDS6315.1			1	
PCDHGA6	0	LGGM	GRCh37	5	140755446	140755446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	134	8	.	.	ENST00000517434.1:c.1796G>T	p.Gly599Val	p.G599V	ENST00000517434	NM_018919.2	599	gGc/gTc	0	1	1	UPI00000715C8	0	getma.org/pdb.php?prot=PCDG6_HUMAN&from=578&to=665&var=G599V	ENST00000517434		ENSG00000253731	8704		142	4.4		HGNC	p.G599V	rs756079682,COSM1130863	PCDHGA6		SNV				0.000319		0,1	ENST00000517434	protein_coding	getma.org/?cm=var&var=hg19,5,140755446,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/V		T	high	1796/4605	0.000154	getma.org/?cm=msa&ty=f&p=PCDG6_HUMAN&rb=578&re=665&var=G599V	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA6,missense_variant,p.Gly599Val,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;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;					0,1		MODERATE	1796/2799	G599V	PCDG6_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000429601	0.000165	CCDS54926.1			1	
ANO2	0	LGGM	GRCh37	12	5687588	5687588	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	31	9	.	.	ENST00000327087.8:c.2330C>A	p.Ala777Glu	p.A777E	ENST00000327087	NM_001278596.1	777	gCa/gAa	0	1		UPI00000715DF	0	NA	ENST00000356134		ENSG00000047617	1183		40	3.82		HGNC	p.A778E		ANO2		SNV							ENST00000546188	protein_coding	getma.org/?cm=var&var=hg19,12,5687588,G,T&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20		A/E		T	high	2405/3717		getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=352&re=944&var=A782E	deleterious(0)	Q69YW4_HUMAN				ANO2,missense_variant,p.Ala778Glu,ENST00000356134,;ANO2,missense_variant,p.Ala778Glu,ENST00000546188,;ANO2,missense_variant,p.Ala777Glu,ENST00000327087,NM_001278596.1,NM_001278597.1;							MODERATE	2333/3000	A782E	ANO2_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000348453					1	
MRPL13	0	LGGM	GRCh37	8	121455546	121455546	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	9	.	.	ENST00000306185.3:c.30A>G	p.Gln10=	p.Q10=	ENST00000306185	NM_014078.5	10	caA/caG	0	1	1	UPI00001342CD	0		ENST00000306185		ENSG00000172172	14278		33			HGNC	p.Q10Q		MRPL13		SNV							ENST00000518696	protein_coding			hmmpanther:PTHR11545:SF6,hmmpanther:PTHR11545,Gene3D:3.90.1180.10,PIRSF_domain:PIRSF002181,Superfamily_domains:SSF52161		Q		C		322/1086				H0YAX3_HUMAN,E5RJI7_HUMAN			YES	MRPL13,splice_region_variant,p.=,ENST00000306185,NM_014078.5;MRPL13,splice_region_variant,,ENST00000518918,;MTBP,upstream_gene_variant,,ENST00000305949,NM_022045.4;MRPL13,splice_region_variant,p.=,ENST00000518696,;MRPL13,splice_region_variant,,ENST00000520677,;MTBP,upstream_gene_variant,,ENST00000522308,;MTBP,upstream_gene_variant,,ENST00000523373,;MTBP,upstream_gene_variant,,ENST00000456899,;							LOW	30/537		RM13_HUMAN			Transcript			.	ENSP00000306548		CCDS6332.1			1	
TMEM108	0	LGGM	GRCh37	3	133098957	133098957	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	9	.	.	ENST00000321871.6:c.402A>T	p.Arg134=	p.R134=	ENST00000321871	NM_001136469.1	134	cgA/cgT	0	1	1	UPI000004EE8B	0		ENST00000321871		ENSG00000144868	28451		30			HGNC	p.R134R		TMEM108		SNV							ENST00000515826	protein_coding					R		T		612/3744				D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN			YES	TMEM108,synonymous_variant,p.=,ENST00000515826,;TMEM108,synonymous_variant,p.=,ENST00000321871,NM_001136469.1,NM_023943.2;TMEM108,synonymous_variant,p.=,ENST00000393130,;TMEM108,synonymous_variant,p.=,ENST00000512662,;TMEM108,synonymous_variant,p.=,ENST00000514894,;TMEM108,synonymous_variant,p.=,ENST00000512137,;TMEM108,synonymous_variant,p.=,ENST00000510183,;TMEM108,intron_variant,,ENST00000508711,NM_001282865.1;TMEM108,downstream_gene_variant,,ENST00000511555,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,;							LOW	402/1728		TM108_HUMAN			Transcript			.	ENSP00000324651		CCDS33858.1			1	
TRABD2A	0	LGGM	GRCh37	2	85097805	85097805	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	36	9	.	.	ENST00000335459.5:c.213C>T	p.Pro71=	p.P71=	ENST00000335459	NM_001080824.2	71	ccC/ccT	0	1		UPI000016012F	0		ENST00000409520		ENSG00000186854	27013		45			HGNC	p.P71P	rs778546730	TRABD2A	8.52E-05	SNV							ENST00000409133	protein_coding			hmmpanther:PTHR31120:SF4,hmmpanther:PTHR31120,Pfam_domain:PF01963		P		A		256/1809								TRABD2A,synonymous_variant,p.=,ENST00000335459,NM_001080824.2;TRABD2A,synonymous_variant,p.=,ENST00000409520,NM_001277053.1;TRABD2A,synonymous_variant,p.=,ENST00000409133,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000436322,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000474298,;RPL12P18,upstream_gene_variant,,ENST00000437175,;							LOW	213/1518		TIKI1_HUMAN			Transcript			.	ENSP00000387075	8.27E-06	CCDS62946.1			1	
WIF1	0	LGGM	GRCh37	12	65456279	65456279	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	11	9	.	.	ENST00000286574.4:c.808G>T	p.Gly270Ter	p.G270*	ENST00000286574	NM_007191.4	270	Gga/Tga	0	1	1	UPI0000038BEE	0	NA	ENST00000286574		ENSG00000156076	18081		20	0		HGNC	p.G270X		WIF1		SNV							ENST00000286574	protein_coding	getma.org/?cm=var&var=hg19,12,65456279,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,PROSITE_patterns:PS00022,Pfam_domain:PF12661,Gene3D:2gy5A03,SMART_domains:SM00181		G/*		A	NA	1183/2238		NA		F5H8A3_HUMAN,B4DX53_HUMAN			YES	WIF1,stop_gained,p.Gly270Ter,ENST00000286574,NM_007191.4;WIF1,stop_gained,p.Gly33Ter,ENST00000543094,;							HIGH	808/1140	G270*	WIF1_HUMAN			Transcript			.	ENSP00000286574		CCDS8971.1			1	
SOGA2	0	LGGM	GRCh37	18	8825740	8825740	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	9	9	.	.	ENST00000359865.3:c.4232C>T	p.Ser1411Leu	p.S1411L	ENST00000359865	NM_015210.3	1411	tCa/tTa	0	1		UPI0001AE65C5	0	NA	ENST00000306329		ENSG00000168502	29121	8.69E-05	18	-0.49		HGNC	p.S1370L	rs761294685	SOGA2		SNV							ENST00000517570	protein_coding	getma.org/?cm=var&var=hg19,18,8825740,C,T&fts=all		hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF3		S/L		T	neutral	5189/5718		getma.org/?cm=msa&ty=f&p=CC165_HUMAN&rb=1601&re=1800&var=S1730L	tolerated(0.19)	J3QLE1_HUMAN				SOGA2,missense_variant,p.Ser1411Leu,ENST00000359865,NM_015210.3;SOGA2,missense_variant,p.Ser736Leu,ENST00000306285,;SOGA2,missense_variant,p.Ser1370Leu,ENST00000517570,;SOGA2,missense_variant,p.Ser1370Leu,ENST00000400050,;SOGA2,missense_variant,p.Ser1730Leu,ENST00000306329,;SOGA2,missense_variant,p.Ser736Leu,ENST00000518815,;SOGA2,upstream_gene_variant,,ENST00000581670,;							MODERATE	5189/5718	S1730L	SOGA2_HUMAN			Transcript		benign(0.203)	.	ENSP00000305027	8.24E-06				1	
C7orf72	0	LGGM	GRCh37	7	50143960	50143960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	22	9	.	.	ENST00000297001.6:c.604C>T	p.Arg202Cys	p.R202C	ENST00000297001	NM_001161834.2	202	Cgc/Tgc	0	1	1	UPI00001D7424	0	NA	ENST00000297001		ENSG00000164500	22564		31	-0.69		HGNC	p.R202C	rs773612283	C7orf72	0.000126	SNV							ENST00000297001	protein_coding	getma.org/?cm=var&var=hg19,7,50143960,C,T&fts=all				R/C		T	neutral	654/2028		getma.org/?cm=msa&ty=f&p=CG072_HUMAN&rb=1&re=433&var=R202C	tolerated(0.25)				YES	C7orf72,missense_variant,p.Arg202Cys,ENST00000297001,NM_001161834.2;ZPBP,intron_variant,,ENST00000450231,;							MODERATE	604/1317	R202C	CG072_HUMAN			Transcript		benign(0)	.	ENSP00000297001	4.29E-05	CCDS47585.1			1	
WDR66	0	LGGM	GRCh37	12	122406014	122406014	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	8	9	.	.	ENST00000288912.4:c.2710T>C	p.Cys904Arg	p.C904R	ENST00000288912	NM_144668.5	904	Tgc/Cgc	0	1	1	UPI00001AEB2C	0	NA	ENST00000288912		ENSG00000158023	28506		17	-0.435		HGNC	p.C904R		WDR66		SNV							ENST00000397454	protein_coding	getma.org/?cm=var&var=hg19,12,122406014,T,C&fts=all		hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		C/R		C	neutral	3564/4467		getma.org/?cm=msa&ty=f&p=WDR66_HUMAN&rb=722&re=921&var=C904R	tolerated(1)				YES	WDR66,missense_variant,p.Cys904Arg,ENST00000288912,NM_144668.5;WDR66,missense_variant,p.Cys904Arg,ENST00000397454,NM_001178003.1;WDR66,non_coding_transcript_exon_variant,,ENST00000545752,;							MODERATE	2710/3450	C904R	WDR66_HUMAN			Transcript		benign(0)	.	ENSP00000288912		CCDS41853.1			1	
MUC16	0	LGGM	GRCh37	19	8976741	8976741	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	14	9	.	.	ENST00000397910.4:c.42325C>G	p.Leu14109Val	p.L14109V	ENST00000397910	NM_024690.2	14109	Ctg/Gtg	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=14102&to=14214&var=L14140V	ENST00000397910		ENSG00000181143	15582		23	2.97		HGNC	p.L750V		MUC16		SNV							ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8976741,G,C&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		L/V		C	medium	42529/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=14102&re=14214&var=L14140V		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Leu14109Val,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Leu932Val,ENST00000599436,;MUC16,missense_variant,p.Leu750Val,ENST00000380951,;MUC16,splice_region_variant,,ENST00000596956,;MUC16,missense_variant,p.Leu927Val,ENST00000601404,;MUC16,intron_variant,,ENST00000596768,;							MODERATE	42325/43524	L14140V				Transcript		probably_damaging(0.999)	.	ENSP00000381008		CCDS54212.1			1	
PTK2	0	LGGM	GRCh37	8	141828374	141828374	+	splice_donor_variant	Splice_Site	DEL	A	A	-	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	10	.	.	ENST00000340930.3:c.867+2del		p.X289_splice	ENST00000340930	NM_001199649.1			0	1		UPI000012A4FB	0		ENST00000521059		ENSG00000169398	9611		34			HGNC	-		PTK2		deletion							ENST00000522684	protein_coding							-		-/4405				E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN,B4DWJ1_HUMAN				PTK2,splice_donor_variant,,ENST00000522684,NM_153831.3;PTK2,splice_donor_variant,,ENST00000517887,;PTK2,splice_donor_variant,,ENST00000395218,;PTK2,splice_donor_variant,,ENST00000519419,;PTK2,splice_donor_variant,,ENST00000340930,NM_001199649.1;PTK2,splice_donor_variant,,ENST00000521059,NM_005607.4;PTK2,splice_donor_variant,,ENST00000519654,;PTK2,splice_donor_variant,,ENST00000535192,;PTK2,downstream_gene_variant,,ENST00000524357,;PTK2,splice_donor_variant,,ENST00000519993,;PTK2,splice_donor_variant,,ENST00000524202,;							HIGH	867/3159		FAK1_HUMAN			Transcript			.	ENSP00000429474		CCDS6381.1			1	
C10orf76	0	LGGM	GRCh37	10	103772635	103772635	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	8	10	.	.	ENST00000370033.4:c.727-2A>G		p.X243_splice	ENST00000370033	NM_024541.2			0	1	1	UPI000047005B	0		ENST00000370033		ENSG00000120029	25788		18			HGNC	-		C10orf76		SNV							ENST00000370033	protein_coding							C		-/4119							YES	C10orf76,splice_acceptor_variant,,ENST00000370033,NM_024541.2;							HIGH	727/2070		CJ076_HUMAN			Transcript			.	ENSP00000359050		CCDS41563.1			1	
ARHGEF15	0	LGGM	GRCh37	17	8216464	8216464	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	2	10	.	.	ENST00000361926.3:c.826C>A	p.Pro276Thr	p.P276T	ENST00000361926	NM_173728.3	276	Cca/Aca	0	1	1	UPI000013D2C0	0	NA	ENST00000361926		ENSG00000198844	15590		12	0.895		HGNC	p.P36T		ARHGEF15		SNV							ENST00000581809	protein_coding	getma.org/?cm=var&var=hg19,17,8216464,C,A&fts=all		hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7,Low_complexity_(Seg):seg		P/T		A	low	936/4154		getma.org/?cm=msa&ty=f&p=ARHGF_HUMAN&rb=201&re=400&var=P276T	deleterious_low_confidence(0)	J3QS60_HUMAN,J3KT46_HUMAN			YES	ARHGEF15,missense_variant,p.Pro276Thr,ENST00000361926,NM_173728.3;ARHGEF15,missense_variant,p.Pro276Thr,ENST00000421050,NM_025014.1;ARHGEF15,downstream_gene_variant,,ENST00000579439,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;AC135178.7,downstream_gene_variant,,ENST00000458568,;ARHGEF15,missense_variant,p.Pro36Thr,ENST00000581809,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;							MODERATE	826/2526	P276T	ARHGF_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000355026		CCDS11139.1			1	
IGLV4-60	0	LGGM	GRCh37	22	22516781	22516781	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	33	10	.	.	ENST00000390284.2:c.69T>A	p.Pro23=	p.P23=	ENST00000390284		23	ccT/ccA	0	1	1	UPI0001611017	0		ENST00000390284		ENSG00000211639	5920		43			HGNC	p.P23P		IGLV4-60		SNV							ENST00000390284	IG_V_gene			Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF9,hmmpanther:PTHR23267,PROSITE_profiles:PS50835		P		A		69/362				Q5NV79_HUMAN			YES	IGLV4-60,synonymous_variant,p.=,ENST00000390284,;LL22NC03-30E12.11,downstream_gene_variant,,ENST00000440562,;							LOW	69/362					Transcript			.	ENSP00000374819					1	
CC2D1A	0	LGGM	GRCh37	19	14029595	14029595	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	20	10	.	.	ENST00000318003.7:c.983A>T	p.Gln328Leu	p.Q328L	ENST00000318003	NM_017721.4	328	cAg/cTg	0	1	1	UPI0000203524	0	NA	ENST00000318003		ENSG00000132024	30237		30	1.345		HGNC	p.Q328L		CC2D1A		SNV			1				ENST00000589606	protein_coding	getma.org/?cm=var&var=hg19,19,14029595,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7		Q/L		T	low	1224/3581		getma.org/?cm=msa&ty=f&p=C2D1A_HUMAN&rb=201&re=400&var=Q328L	tolerated(0.08)				YES	CC2D1A,missense_variant,p.Gln328Leu,ENST00000318003,NM_017721.4;CC2D1A,missense_variant,p.Gln328Leu,ENST00000589606,;CC2D1A,upstream_gene_variant,,ENST00000587508,;CC2D1A,missense_variant,p.Gln174Leu,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,;							MODERATE	983/2856	Q328L	C2D1A_HUMAN			Transcript		benign(0.275)	.	ENSP00000313601		CCDS42512.1			1	
MISP	0	LGGM	GRCh37	19	758454	758454	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	18	10	.	.	ENST00000215582.6:c.1508A>T	p.Tyr503Phe	p.Y503F	ENST00000215582	NM_173481.2	503	tAc/tTc	0	1	1	UPI00000745CD	0	NA	ENST00000215582		ENSG00000099812	27000		28	1.67		HGNC	p.Y503F		MISP		SNV							ENST00000215582	protein_coding	getma.org/?cm=var&var=hg19,19,758454,A,T&fts=all		hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304		Y/F		T	low	1611/2872		getma.org/?cm=msa&ty=f&p=CS021_HUMAN&rb=1&re=677&var=Y503F	deleterious(0.01)				YES	MISP,missense_variant,p.Tyr503Phe,ENST00000215582,NM_173481.2;							MODERATE	1508/2040	Y503F	MISP_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000215582		CCDS12042.1			1	
IL33	0	LGGM	GRCh37	9	6251213	6251213	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	22	10	.	.	ENST00000381434.3:c.291T>A	p.Gly97=	p.G97=	ENST00000381434	NM_033439.3	97	ggT/ggA	0	1	1	UPI000000DBB2	0		ENST00000381434		ENSG00000137033	16028		32			HGNC	p.G97G		IL33		SNV							ENST00000381434	protein_coding			hmmpanther:PTHR21114,hmmpanther:PTHR21114:SF0,Pfam_domain:PF15095		G		A		304/2641							YES	IL33,synonymous_variant,p.=,ENST00000381434,NM_033439.3;IL33,synonymous_variant,p.=,ENST00000456383,NM_001199640.1;IL33,intron_variant,,ENST00000417746,NM_001199641.1;							LOW	291/813		IL33_HUMAN			Transcript			.	ENSP00000370842		CCDS6468.1			1	
IMPDH2	0	LGGM	GRCh37	3	49062401	49062401	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	10	.	.	ENST00000326739.4:c.1223T>G	p.Leu408Arg	p.L408R	ENST00000326739	NM_000884.2	408	cTa/cGa	0	1	1	UPI000004A47A	0	getma.org/pdb.php?prot=IMDH2_HUMAN&from=28&to=504&var=L408R	ENST00000326739		ENSG00000178035	6053		31	3.53		HGNC	p.L408R		IMPDH2		SNV							ENST00000326739	protein_coding	getma.org/?cm=var&var=hg19,3,49062401,A,C&fts=all		HAMAP:MF_01964,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000130,Superfamily_domains:SSF51412		L/R		C	high	1263/1643		getma.org/?cm=msa&ty=f&p=IMDH2_HUMAN&rb=28&re=504&var=L408R	deleterious(0.01)	Q6RUP9_HUMAN,Q6RUP8_HUMAN			YES	IMPDH2,missense_variant,p.Leu408Arg,ENST00000326739,NM_000884.2;IMPDH2,missense_variant,p.Leu364Arg,ENST00000429182,;QRICH1,downstream_gene_variant,,ENST00000395443,NM_198880.1;QRICH1,downstream_gene_variant,,ENST00000357496,NM_017730.2;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,;QRICH1,downstream_gene_variant,,ENST00000498392,;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,;IMPDH2,upstream_gene_variant,,ENST00000463903,;							MODERATE	1223/1545	L408R	IMDH2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000321584		CCDS2786.1			1	
LRIG2	0	LGGM	GRCh37	1	113658986	113658986	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	38	11	.	.	ENST00000361127.5:c.2608A>T	p.Ser870Cys	p.S870C	ENST00000361127	NM_014813.1	870	Agc/Tgc	0	1	1	UPI000006F613	0	NA	ENST00000361127		ENSG00000198799	20889		49	1.935		HGNC	p.S870C		LRIG2		SNV			1				ENST00000361127	protein_coding	getma.org/?cm=var&var=hg19,1,113658986,A,T&fts=all		hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF230		S/C		T	medium	2806/11555		getma.org/?cm=msa&ty=f&p=LRIG2_HUMAN&rb=804&re=1063&var=S870C	tolerated(0.19)				YES	LRIG2,missense_variant,p.Ser870Cys,ENST00000361127,NM_014813.1;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;							MODERATE	2608/3198	S870C	LRIG2_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000355396		CCDS30808.1			1	
CCR1	0	LGGM	GRCh37	3	46244802	46244802	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	13	11	.	.	ENST00000296140.3:c.1003A>T	p.Arg335Trp	p.R335W	ENST00000296140	NM_001295.2	335	Agg/Tgg	0	1	1	UPI0000043584	0	NA	ENST00000296140		ENSG00000163823	1602		24	2.395		HGNC	p.R335W	rs766618967	CCR1		SNV							ENST00000296140	protein_coding	getma.org/?cm=var&var=hg19,3,46244802,T,A&fts=all		hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF61		R/W		A	medium	1129/2731	1.50E-05	getma.org/?cm=msa&ty=f&p=CCR1_HUMAN&rb=302&re=355&var=R335W	deleterious(0.01)	Q5U003_HUMAN			YES	CCR1,missense_variant,p.Arg335Trp,ENST00000296140,NM_001295.2;CCR3,intron_variant,,ENST00000357422,;							MODERATE	1003/1068	R335W	CCR1_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000296140	8.24E-06	CCDS2737.1			1	
BRAP	0	LGGM	GRCh37	12	112117060	112117060	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	15	11	.	.	ENST00000419234.4:c.528C>A	p.Asp176Glu	p.D176E	ENST00000419234	NM_006768.3	176	gaC/gaA	0	1	1	UPI00001AF597	0	NA	ENST00000419234		ENSG00000089234	1099		26	1.96		HGNC	p.D35E		BRAP		SNV							ENST00000539060	protein_coding	getma.org/?cm=var&var=hg19,12,112117060,G,T&fts=all		hmmpanther:PTHR24007,Gene3D:3.30.70.330,Pfam_domain:PF07576,Superfamily_domains:SSF54928		D/E		T	medium	722/4026		getma.org/?cm=msa&ty=f&p=BRAP_HUMAN&rb=148&re=257&var=D176E	deleterious(0)	Q59H81_HUMAN,J3KNN7_HUMAN			YES	BRAP,missense_variant,p.Asp176Glu,ENST00000419234,NM_006768.3;BRAP,missense_variant,p.Asp146Glu,ENST00000327551,;BRAP,missense_variant,p.Asp35Glu,ENST00000539060,;							MODERATE	528/1779	D176E	BRAP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000403524		CCDS9154.1			1	
SCN1A	0	LGGM	GRCh37	2	166900471	166900471	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	27	11	.	.	ENST00000303395.4:c.1751T>A	p.Val584Glu	p.V584E	ENST00000303395		584	gTg/gAg	0	1	1	UPI000003C71D	0	NA	ENST00000303395		ENSG00000144285	10585		38	2.35		HGNC	p.V584E		SCN1A		SNV			1				ENST00000409050	protein_coding	getma.org/?cm=var&var=hg19,2,166900471,A,T&fts=all		Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133		V/E		T	medium	1751/8112		getma.org/?cm=msa&ty=f&p=SCN1A_HUMAN&rb=484&re=719&var=V584E	tolerated(0.11)	F8T7W7_HUMAN			YES	SCN1A,missense_variant,p.Val584Glu,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Val584Glu,ENST00000303395,;SCN1A,missense_variant,p.Val584Glu,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,missense_variant,p.Val584Glu,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;							MODERATE	1751/6030	V584E	SCN1A_HUMAN			Transcript		benign(0.071)	.	ENSP00000303540		CCDS54413.1			1	
PTGES3	0	LGGM	GRCh37	12	57064113	57064113	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	11	.	.	ENST00000262033.6:c.321A>G	p.Lys107=	p.K107=	ENST00000262033	NM_006601.5	107	aaA/aaG	0	1	1	UPI0000052BAE	0		ENST00000262033		ENSG00000110958	16049		35			HGNC	p.K107K		PTGES3		SNV							ENST00000262033	protein_coding			Superfamily_domains:SSF49764,Gene3D:2.60.40.790,hmmpanther:PTHR22932:SF3,hmmpanther:PTHR22932		K		C		622/1920							YES	PTGES3,synonymous_variant,p.=,ENST00000262033,NM_006601.5;PTGES3,synonymous_variant,p.=,ENST00000448157,NM_001282601.1;PTGES3,synonymous_variant,p.=,ENST00000456859,;PTGES3,synonymous_variant,p.=,ENST00000436399,NM_001282603.1;PTGES3,intron_variant,,ENST00000414274,NM_001282602.1;RN7SL809P,downstream_gene_variant,,ENST00000482040,;PTGES3,non_coding_transcript_exon_variant,,ENST00000537473,;							LOW	321/483		TEBP_HUMAN			Transcript			.	ENSP00000262033		CCDS31836.1			1	
BHMT2	0	LGGM	GRCh37	5	78384326	78384326	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	52	12	.	.	ENST00000255192.3:c.1021G>T	p.Glu341Ter	p.E341*	ENST00000255192	NM_017614.4	341	Gag/Tag	0	1	1	UPI00000701B9	0	NA	ENST00000255192		ENSG00000132840	1048		64	0		HGNC	p.E341X		BHMT2		SNV							ENST00000255192	protein_coding	getma.org/?cm=var&var=hg19,5,78384326,G,T&fts=all		Gene3D:3.20.20.330,PIRSF_domain:PIRSF037505,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF94,Superfamily_domains:SSF82282		E/*		T	NA	1087/2050		NA		E5RH96_HUMAN			YES	BHMT2,stop_gained,p.Glu341Ter,ENST00000255192,NM_017614.4;BHMT2,stop_gained,p.Glu277Ter,ENST00000521567,NM_001178005.1;DMGDH,intron_variant,,ENST00000520388,;							HIGH	1021/1092	E341*	BHMT2_HUMAN			Transcript			.	ENSP00000255192		CCDS4045.1			1	
ACTA2	0	LGGM	GRCh37	10	90701056	90701056	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	12	.	.	ENST00000458208.1:c.546G>A	p.Leu182=	p.L182=	ENST00000458208	NM_001141945.1	182	ctG/ctA	0	1		UPI0000000E0F	0		ENST00000224784		ENSG00000107796	130		41			HGNC	p.L182L		ACTA2		SNV			1				ENST00000458208	protein_coding			hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		L		T		612/1349				D2JYH4_HUMAN,Q562S2_HUMAN,F6UVQ4_HUMAN,F6QUT6_HUMAN,B4DUI8_HUMAN,B3KPP5_HUMAN				ACTA2,synonymous_variant,p.=,ENST00000458208,NM_001141945.1;ACTA2,synonymous_variant,p.=,ENST00000224784,NM_001613.2;STAMBPL1,intron_variant,,ENST00000371927,;ACTA2,downstream_gene_variant,,ENST00000415557,;ACTA2,downstream_gene_variant,,ENST00000458159,;ACTA2-AS1,downstream_gene_variant,,ENST00000437930,;ACTA2-AS1,downstream_gene_variant,,ENST00000596007,;ACTA2,non_coding_transcript_exon_variant,,ENST00000480297,;							LOW	546/1134		ACTA_HUMAN			Transcript			.	ENSP00000224784		CCDS7392.1			1	
SLC9A3	0	LGGM	GRCh37	5	476351	476351	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	36	12	.	.	ENST00000264938.3:c.2033C>G	p.Ala678Gly	p.A678G	ENST00000264938	NM_004174.2	678	gCc/gGc	0	1	1	UPI000013D597	0	NA	ENST00000264938		ENSG00000066230	11073		48	1.7		HGNC	p.A669G		SLC9A3		SNV							ENST00000514375	protein_coding	getma.org/?cm=var&var=hg19,5,476351,G,C&fts=all		hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110		A/G		C	low	2043/2584		getma.org/?cm=msa&ty=f&p=SL9A3_HUMAN&rb=663&re=834&var=A678G	tolerated(0.26)				YES	SLC9A3,missense_variant,p.Ala678Gly,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Ala669Gly,ENST00000514375,NM_001284351.1;CTD-2228K2.5,upstream_gene_variant,,ENST00000342584,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000607286,;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000606319,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,upstream_gene_variant,,ENST00000431004,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510714,;EXOC3,downstream_gene_variant,,ENST00000509294,;CTD-2228K2.5,upstream_gene_variant,,ENST00000502511,;EXOC3,downstream_gene_variant,,ENST00000515601,;EXOC3,downstream_gene_variant,,ENST00000503889,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,;SLC9A3,downstream_gene_variant,,ENST00000507407,;							MODERATE	2033/2505	A678G	SL9A3_HUMAN			Transcript		benign(0.066)	.	ENSP00000264938		CCDS3855.1			1	
DSE	0	LGGM	GRCh37	6	116758302	116758302	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	45	12	.	.	ENST00000331677.3:c.2671A>T	p.Ser891Cys	p.S891C	ENST00000331677		891	Agc/Tgc	0	1	1	UPI0000073CB8	0	NA	ENST00000331677		ENSG00000111817	21144		57	0.805		HGNC	p.S910C		DSE		SNV			1				ENST00000537543	protein_coding	getma.org/?cm=var&var=hg19,6,116758302,A,T&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3		S/C		T	low	3115/7237		getma.org/?cm=msa&ty=f&p=DSE_HUMAN&rb=801&re=958&var=S891C	deleterious_low_confidence(0)	B3KY37_HUMAN			YES	DSE,missense_variant,p.Ser891Cys,ENST00000331677,;DSE,missense_variant,p.Ser891Cys,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Ser891Cys,ENST00000359564,NM_013352.2;DSE,missense_variant,p.Ser910Cys,ENST00000537543,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;							MODERATE	2671/2877	S891C	DSE_HUMAN			Transcript		possibly_damaging(0.591)	.	ENSP00000332151		CCDS5107.1			1	
SEZ6L2	0	LGGM	GRCh37	16	29888645	29888645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	11	12	.	.	ENST00000308713.5:c.1856C>T	p.Pro619Leu	p.P619L	ENST00000308713	NM_001114099.2	619	cCg/cTg	0	1	1	UPI0000366B1B	0	getma.org/pdb.php?prot=SE6L2_HUMAN&from=527&to=635&var=P619L	ENST00000308713		ENSG00000174938	30844		23	0		HGNC	p.P549L	COSM4059986,COSM4059987	SEZ6L2		SNV						1,1	ENST00000350527	protein_coding	getma.org/?cm=var&var=hg19,16,29888645,G,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		P/L		A	neutral	2384/3801		getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=527&re=635&var=P619L	deleterious(0.01)	B3KNF3_HUMAN			YES	SEZ6L2,missense_variant,p.Pro619Leu,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Pro549Leu,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Pro505Leu,ENST00000346932,NM_001114100.2;SEZ6L2,missense_variant,p.Pro575Leu,ENST00000537485,NM_001243333.1;SEZ6L2,missense_variant,p.Pro224Leu,ENST00000563118,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000568407,;					1,1		MODERATE	1856/2733	P619L	SE6L2_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000312550		CCDS10659.1			1	
GDA	0	LGGM	GRCh37	9	74846096	74846096	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	12	.	.	ENST00000238018.4:c.987A>G	p.Thr329=	p.T329=	ENST00000238018		329	acA/acG	0	1		UPI000012BD83	0		ENST00000358399		ENSG00000119125	4212		36			HGNC	p.T195T		GDA		SNV							ENST00000414671	protein_coding			Superfamily_domains:SSF51556,Pfam_domain:PF01979,TIGRFAM_domain:TIGR02967,Gene3D:3.20.20.140,hmmpanther:PTHR11271:SF6,hmmpanther:PTHR11271		T		G		1080/5340				B4DIP8_HUMAN,B3KUM3_HUMAN				GDA,splice_region_variant,p.=,ENST00000358399,NM_001242506.2,NM_001242505.2,NM_004293.4;GDA,splice_region_variant,p.=,ENST00000376986,;GDA,splice_region_variant,p.=,ENST00000238018,;GDA,splice_region_variant,p.=,ENST00000545168,NM_001242507.2;GDA,splice_region_variant,p.=,ENST00000376989,;GDA,splice_region_variant,p.=,ENST00000436438,;GDA,synonymous_variant,p.=,ENST00000414671,;GDA,downstream_gene_variant,,ENST00000477618,;GDA,splice_region_variant,p.=,ENST00000475764,;GDA,splice_region_variant,p.=,ENST00000489618,;							LOW	987/1365		GUAD_HUMAN			Transcript			.	ENSP00000351170		CCDS6641.1			1	
ARHGAP30	0	LGGM	GRCh37	1	161022506	161022506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	12	.	.	ENST00000368013.3:c.746T>A	p.Leu249Gln	p.L249Q	ENST00000368013	NM_181720.2	249	cTg/cAg	0	1	1	UPI0000160677	0	NA	ENST00000368013		ENSG00000186517	27414		33	1.765		HGNC	p.L72Q		ARHGAP30		SNV							ENST00000368015	protein_coding	getma.org/?cm=var&var=hg19,1,161022506,A,T&fts=all		hmmpanther:PTHR15729		L/Q		T	low	1067/4394		getma.org/?cm=msa&ty=f&p=RHG30_HUMAN&rb=187&re=318&var=L249Q	deleterious(0.01)				YES	ARHGAP30,missense_variant,p.Leu249Gln,ENST00000368013,NM_181720.2,NM_001025598.1;ARHGAP30,missense_variant,p.Leu72Gln,ENST00000368015,NM_001287602.1;ARHGAP30,missense_variant,p.Leu249Gln,ENST00000368016,;ARHGAP30,3_prime_UTR_variant,,ENST00000490279,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;ARHGAP30,downstream_gene_variant,,ENST00000471492,;							MODERATE	746/3306	L249Q	RHG30_HUMAN			Transcript		benign(0.206)	.	ENSP00000356992		CCDS30918.1			1	
HIST1H4I	0	LGGM	GRCh37	6	27107172	27107172	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	47	12	.	.	ENST00000354348.2:c.85G>A	p.Gly29Ser	p.G29S	ENST00000354348	NM_003495.2	29	Ggt/Agt	0	1	1	UPI000000003C	0	getma.org/pdb.php?prot=H4_HUMAN&from=25&to=94&var=G29S	ENST00000354348		ENSG00000198339	4793		59	2.66		HGNC	p.G29S		HIST1H4I		SNV							ENST00000354348	protein_coding	getma.org/?cm=var&var=hg19,6,27107172,G,A&fts=all		hmmpanther:PTHR10484,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00803,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623		G/S		A	medium	97/1343		getma.org/?cm=msa&ty=f&p=H4_HUMAN&rb=25&re=94&var=G29S	deleterious(0.01)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4I,missense_variant,p.Gly29Ser,ENST00000354348,NM_003495.2;HIST1H2BK,intron_variant,,ENST00000396891,NM_080593.2;HIST1H2AG,downstream_gene_variant,,ENST00000359193,NM_021064.4;							MODERATE	85/312	G29S	H4_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000346316		CCDS4620.1			1	
ARHGAP9	0	LGGM	GRCh37	12	57868697	57868697	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	14	13	.	.	ENST00000393791.3:c.1612A>C	p.Ser538Arg	p.S538R	ENST00000393791	NM_032496.2	538	Agc/Cgc	0	1	1	UPI000007131B	0	getma.org/pdb.php?prot=RHG09_HUMAN&from=556&to=726&var=S557R	ENST00000393791		ENSG00000123329	14130		27	0.07		HGNC	p.S45R		ARHGAP9		SNV							ENST00000550130	protein_coding	getma.org/?cm=var&var=hg19,12,57868697,T,G&fts=all		PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		S/R		G	neutral	1751/2597		getma.org/?cm=msa&ty=f&p=RHG09_HUMAN&rb=556&re=726&var=S557R	tolerated(0.93)	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN			YES	ARHGAP9,missense_variant,p.Ser628Arg,ENST00000393797,;ARHGAP9,missense_variant,p.Ser617Arg,ENST00000550288,;ARHGAP9,missense_variant,p.Ser557Arg,ENST00000356411,;ARHGAP9,missense_variant,p.Ser538Arg,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Ser538Arg,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Ser354Arg,ENST00000430041,NM_001080156.1;ARHGAP9,missense_variant,p.Ser8Arg,ENST00000550399,;ARHGAP9,missense_variant,p.Ser45Arg,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,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552953,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550440,;ARHGAP9,non_coding_transcript_exon_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,;							MODERATE	1612/2196	S557R	RHG09_HUMAN			Transcript		benign(0.076)	.	ENSP00000377380		CCDS8941.2			1	
BAG1	0	LGGM	GRCh37	9	33262776	33262776	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	32	13	.	.	ENST00000472232.3:c.504A>G	p.Pro168=	p.P168=	ENST00000472232	NM_004323.5	168	ccA/ccG	0	1	1	UPI000013C843	0		ENST00000472232		ENSG00000107262	937		45			HGNC	p.Q36R		BAG1		SNV							ENST00000488499	protein_coding			PROSITE_profiles:PS50053,hmmpanther:PTHR16617,Gene3D:3.10.20.90,SMART_domains:SM00213,Superfamily_domains:SSF54236		P		C		591/3865				J3QTA2_HUMAN			YES	BAG1,missense_variant,p.Gln36Arg,ENST00000488499,;BAG1,synonymous_variant,p.=,ENST00000472232,NM_004323.5,NM_001172415.1;BAG1,synonymous_variant,p.=,ENST00000379704,;BAG1,synonymous_variant,p.=,ENST00000473781,;CHMP5,upstream_gene_variant,,ENST00000419016,NM_001195536.1;CHMP5,upstream_gene_variant,,ENST00000223500,NM_016410.5;BAG1,upstream_gene_variant,,ENST00000467389,;BAG1,upstream_gene_variant,,ENST00000473464,;BAG1,synonymous_variant,p.=,ENST00000379707,;BAG1,upstream_gene_variant,,ENST00000379701,;							LOW	504/1038					Transcript			.	ENSP00000420514		CCDS35004.1			1	
RSAD1	0	LGGM	GRCh37	17	48557089	48557089	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	15	13	.	.	ENST00000258955.2:c.235G>A	p.Ala79Thr	p.A79T	ENST00000258955	NM_018346.1	79	Gct/Act	0	1	1	UPI0000070E2E	0	getma.org/pdb.php?prot=RSAD1_HUMAN&from=43&to=207&var=A79T	ENST00000258955		ENSG00000136444	25634		28	0.08		HGNC	p.A9T		RSAD1		SNV							ENST00000510554	protein_coding	getma.org/?cm=var&var=hg19,17,48557089,G,A&fts=all		hmmpanther:PTHR13932:SF5,hmmpanther:PTHR13932,TIGRFAM_domain:TIGR00539,Gene3D:2qgqB01,Pfam_domain:PF04055,SMART_domains:SM00729,Superfamily_domains:SSF102114		A/T		A	neutral	320/2528		getma.org/?cm=msa&ty=f&p=RSAD1_HUMAN&rb=43&re=207&var=A79T	tolerated(0.51)	K7EKD3_HUMAN			YES	RSAD1,missense_variant,p.Ala79Thr,ENST00000258955,NM_018346.1;RSAD1,missense_variant,p.Ala9Thr,ENST00000510554,;ACSF2,downstream_gene_variant,,ENST00000427954,;ACSF2,downstream_gene_variant,,ENST00000300441,NM_025149.4;ACSF2,downstream_gene_variant,,ENST00000502667,;ACSF2,downstream_gene_variant,,ENST00000506085,;RSAD1,missense_variant,p.Ala73Thr,ENST00000504284,;RSAD1,non_coding_transcript_exon_variant,,ENST00000443328,;RSAD1,intron_variant,,ENST00000515221,;RSAD1,upstream_gene_variant,,ENST00000506211,;ACSF2,downstream_gene_variant,,ENST00000507792,;RSAD1,upstream_gene_variant,,ENST00000513650,;RSAD1,upstream_gene_variant,,ENST00000509398,;							MODERATE	235/1329	A79T	RSAD1_HUMAN			Transcript		benign(0.034)	.	ENSP00000258955		CCDS11569.1			1	
DSTYK	0	LGGM	GRCh37	1	205126421	205126421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	38	13	.	.	ENST00000367162.3:c.2332A>G	p.Ile778Val	p.I778V	ENST00000367162	NM_015375.2	778	Atc/Gtc	0	1	1	UPI00001D7D39	0	getma.org/pdb.php?prot=DUSTY_HUMAN&from=653&to=906&var=I778V	ENST00000367162		ENSG00000133059	29043		51	0.965		HGNC	p.I778V		DSTYK		SNV			1				ENST00000367162	protein_coding	getma.org/?cm=var&var=hg19,1,205126421,T,C&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS00108,PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V		C	low	2363/7874		getma.org/?cm=msa&ty=f&p=DUSTY_HUMAN&rb=653&re=906&var=I778V	deleterious(0.03)				YES	DSTYK,missense_variant,p.Ile778Val,ENST00000367162,NM_015375.2;DSTYK,missense_variant,p.Ile778Val,ENST00000367161,NM_199462.2;DSTYK,intron_variant,,ENST00000367160,;							MODERATE	2332/2790	I778V	DUSTY_HUMAN			Transcript		benign(0.047)	.	ENSP00000356130		CCDS1451.1			1	
ZNF264	0	LGGM	GRCh37	19	57723008	57723008	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	27	13	.	.	ENST00000263095.6:c.543A>T	p.Arg181Ser	p.R181S	ENST00000263095	NM_003417.4	181	agA/agT	0	1	1	UPI000013C33B	0	NA	ENST00000263095		ENSG00000083844	13057		40	1.92		HGNC	p.R181S		ZNF264		SNV							ENST00000263095	protein_coding	getma.org/?cm=var&var=hg19,19,57723008,A,T&fts=all		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF96		R/S		T	medium	957/2673		getma.org/?cm=msa&ty=f&p=ZN264_HUMAN&rb=55&re=216&var=R181S	tolerated(0.17)	M0QXF3_HUMAN			YES	ZNF264,missense_variant,p.Arg181Ser,ENST00000263095,NM_003417.4;ZNF264,missense_variant,p.Arg181Ser,ENST00000536056,;ZNF264,downstream_gene_variant,,ENST00000597447,;							MODERATE	543/1884	R181S	ZN264_HUMAN			Transcript		benign(0)	.	ENSP00000263095		CCDS33127.1			1	
OR6K6	0	LGGM	GRCh37	1	158725055	158725055	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	39	13	.	.	ENST00000368144.2:c.450G>T	p.Arg150Ser	p.R150S	ENST00000368144	NM_001005184.1	150	agG/agT	0	1	1	UPI000015F229	0	NA	ENST00000368144		ENSG00000180433	15033		52	3.72		HGNC	p.R150S		OR6K6		SNV							ENST00000368144	protein_coding	getma.org/?cm=var&var=hg19,1,158725055,G,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF132,Superfamily_domains:SSF81321		R/S		T	high	546/1172		getma.org/?cm=msa&ty=f&p=OR6K6_HUMAN&rb=1&re=166&var=R150S	deleterious(0)				YES	OR6K6,missense_variant,p.Arg150Ser,ENST00000368144,NM_001005184.1;							MODERATE	450/1032	R150S	OR6K6_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000357126		CCDS30904.1			1	
COL9A1	0	LGGM	GRCh37	6	70964718	70964718	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	38	14	.	.	ENST00000357250.6:c.1613G>T	p.Gly538Val	p.G538V	ENST00000357250	NM_001851.4	538	gGt/gTt	0	1	1	UPI000020D14B	0	NA	ENST00000357250		ENSG00000112280	2217		52	3.83		HGNC	p.G538V		COL9A1		SNV			1				ENST00000357250	protein_coding	getma.org/?cm=var&var=hg19,6,70964718,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454		G/V		A	high	1772/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=532&re=585&var=G538V					YES	COL9A1,missense_variant,p.Gly538Val,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Gly295Val,ENST00000320755,NM_078485.3;COL9A1,missense_variant,p.Gly295Val,ENST00000370499,;COL9A1,splice_region_variant,,ENST00000489611,;COL9A1,splice_region_variant,,ENST00000360859,;COL9A1,upstream_gene_variant,,ENST00000447041,;COL9A1,splice_region_variant,,ENST00000493682,;COL9A1,upstream_gene_variant,,ENST00000489861,;							MODERATE	1613/2766	G538V	CO9A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349790		CCDS4971.1			1	
DNAH10	0	LGGM	GRCh37	12	124352550	124352550	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	42	14	.	.	ENST00000409039.3:c.7049T>A	p.Leu2350Gln	p.L2350Q	ENST00000409039	NM_207437.3	2350	cTg/cAg	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		56	3.08		HGNC	p.L2350Q		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124352550,T,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		L/Q		A	medium	7074/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=2246&re=2415&var=L2350Q					YES	DNAH10,missense_variant,p.Leu2350Gln,ENST00000409039,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,;							MODERATE	7049/13416	L2350Q	DYH10_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000386770		CCDS9255.2			1	
TPR	0	LGGM	GRCh37	1	186304471	186304471	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	53	14	.	.	ENST00000367478.4:c.4910A>T	p.Lys1637Met	p.K1637M	ENST00000367478	NM_003292.2	1637	aAg/aTg	0	1	1	UPI000046FCF4	0	NA	ENST00000367478		ENSG00000047410	12017		67	1.845		HGNC	p.K1637M	COSM3803200	TPR		SNV			1			1	ENST00000367478	protein_coding	getma.org/?cm=var&var=hg19,1,186304471,T,A&fts=all		hmmpanther:PTHR18898		K/M		A	low	5207/9708		getma.org/?cm=msa&ty=f&p=TPR_HUMAN&rb=1618&re=2361&var=K1637M		Q9UE33_HUMAN			YES	TPR,missense_variant,p.Lys1637Met,ENST00000367478,NM_003292.2;TPR,downstream_gene_variant,,ENST00000481347,;					1		MODERATE	4910/7092	K1637M	TPR_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000356448		CCDS41446.1			1	
EP300	0	LGGM	GRCh37	22	41565521	41565521	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	33	14	.	.	ENST00000263253.7:c.4187C>G	p.Ser1396Cys	p.S1396C	ENST00000263253	NM_001429.3	1396	tCt/tGt	0	1	1	UPI00001AE876	0	getma.org/pdb.php?prot=EP300_HUMAN&from=1306&to=1612&var=S1396C	ENST00000263253		ENSG00000100393	3373		47	3.215		HGNC	p.S1396C		EP300		SNV			1				ENST00000263253	protein_coding	getma.org/?cm=var&var=hg19,22,41565521,C,G&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4,Pfam_domain:PF08214		S/C		G	medium	5406/9585		getma.org/?cm=msa&ty=f&p=EP300_HUMAN&rb=1306&re=1612&var=S1396C		B5A250_HUMAN			YES	EP300,missense_variant,p.Ser1396Cys,ENST00000263253,NM_001429.3;RNU6-375P,downstream_gene_variant,,ENST00000517050,;RP1-85F18.6,splice_region_variant,,ENST00000415054,;							MODERATE	4187/7245	S1396C	EP300_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000263253		CCDS14010.1			1	
RAPSN	0	LGGM	GRCh37	11	47470495	47470495	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	27	14	.	.	ENST00000298854.2:c.22C>T	p.Gln8Ter	p.Q8*	ENST00000298854	NM_005055.4	8	Cag/Tag	0	1	1	UPI0000071D46	0	NA	ENST00000298854		ENSG00000165917	9863		41	0		HGNC	p.Q8X		RAPSN		SNV			1				ENST00000352508	protein_coding	getma.org/?cm=var&var=hg19,11,47470495,G,A&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF10579,Prints_domain:PR00217,PROSITE_patterns:PS00405,PROSITE_profiles:PS50005,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF107,SMART_domains:SM00028		Q/*		A	NA	236/1671		NA					YES	RAPSN,stop_gained,p.Gln8Ter,ENST00000298854,NM_005055.4;RAPSN,stop_gained,p.Gln8Ter,ENST00000352508,NM_032645.4;RAPSN,stop_gained,p.Gln8Ter,ENST00000529341,;RAPSN,stop_gained,p.Gln8Ter,ENST00000524487,;							HIGH	22/1239	Q8*	RAPSN_HUMAN			Transcript			.	ENSP00000298854		CCDS7936.1			1	
CCDC80	0	LGGM	GRCh37	3	112358558	112358558	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	48	14	.	.	ENST00000206423.3:c.195T>A	p.Thr65=	p.T65=	ENST00000206423	NM_199512.1	65	acT/acA	0	1	1	UPI000004EE7F	0		ENST00000206423		ENSG00000091986	30649		62			HGNC	p.T65T		CCDC80		SNV							ENST00000444594	protein_coding					T		T		1149/4664							YES	CCDC80,synonymous_variant,p.=,ENST00000206423,NM_199512.1,NM_199511.1;CCDC80,synonymous_variant,p.=,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,non_coding_transcript_exon_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000480275,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000473959,;							LOW	195/2853		CCD80_HUMAN			Transcript			.	ENSP00000206423		CCDS2968.1			1	
TRIM49C	0	LGGM	GRCh37	11	89774432	89774432	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	53	14	.	.	ENST00000448984.1:c.1073G>T	p.Cys358Phe	p.C358F	ENST00000448984	NM_001195234.1	358	tGt/tTt	0	1	1	UPI000013EA2B	0	getma.org/pdb.php?prot=T49L2_HUMAN&from=338&to=451&var=C358F	ENST00000448984		ENSG00000204449	38877		67	3.415		HGNC	p.C358F		TRIM49C		SNV							ENST00000448984	protein_coding	getma.org/?cm=var&var=hg19,11,89774432,G,T&fts=all		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF268,SMART_domains:SM00449,Superfamily_domains:SSF49899		C/F		T	medium	1402/2163		getma.org/?cm=msa&ty=f&p=T49L2_HUMAN&rb=338&re=451&var=C358F	deleterious(0)				YES	TRIM49C,missense_variant,p.Cys358Phe,ENST00000448984,NM_001195234.1;TRIM49C,intron_variant,,ENST00000432771,;							MODERATE	1073/1359	C358F	TR49C_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000388299		CCDS53694.1			1	
DOCK4	0	LGGM	GRCh37	7	111644188	111644188	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	35	15	.	.	ENST00000437633.1:c.38-2A>G		p.X13_splice	ENST00000437633	NM_014705.3			0	1	1	UPI0000D5BB0D	0		ENST00000437633		ENSG00000128512	19192		50			HGNC	-		DOCK4		SNV							ENST00000428084	protein_coding							C		-/6212				Q75MU6_HUMAN			YES	DOCK4,splice_acceptor_variant,,ENST00000428084,;DOCK4,splice_acceptor_variant,,ENST00000437633,NM_014705.3;DOCK4,upstream_gene_variant,,ENST00000445943,;DOCK4,splice_acceptor_variant,,ENST00000476846,;DOCK4,upstream_gene_variant,,ENST00000468571,;							HIGH	38/5901		DOCK4_HUMAN			Transcript			.	ENSP00000404179		CCDS47688.1			1	
SND1	0	LGGM	GRCh37	7	127361412	127361412	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	15	.	.	ENST00000354725.3:c.1110G>T	p.Leu370=	p.L370=	ENST00000354725	NM_014390.2	370	ctG/ctT	0	1	1	UPI00000727E5	0		ENST00000354725		ENSG00000197157	30646		44			HGNC	p.L370L		SND1		SNV							ENST00000354725	protein_coding			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		L		T		1304/3476				B2R5U1_HUMAN			YES	SND1,synonymous_variant,p.=,ENST00000354725,NM_014390.2;SND1,non_coding_transcript_exon_variant,,ENST00000465900,;SND1,non_coding_transcript_exon_variant,,ENST00000468166,;							LOW	1110/2733		SND1_HUMAN			Transcript			.	ENSP00000346762		CCDS34747.1			1	
DST	0	LGGM	GRCh37	6	56490044	56490044	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	140	15	.	.	ENST00000244364.6:c.3130A>T	p.Met1044Leu	p.M1044L	ENST00000244364	NM_015548.4	1044	Atg/Ttg	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		155	1.95		HGNC	p.M1370L		DST		SNV			1				ENST00000312431	protein_coding	getma.org/?cm=var&var=hg19,6,56490044,T,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,SMART_domains:SM00150		M/L		A	medium	3338/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=1256&re=1455&var=M1370L		Q86T18_HUMAN			YES	DST,missense_variant,p.Met1548Leu,ENST00000370754,;DST,missense_variant,p.Met1370Leu,ENST00000370769,;DST,missense_variant,p.Met1370Leu,ENST00000312431,;DST,missense_variant,p.Met1044Leu,ENST00000446842,;DST,missense_variant,p.Met1370Leu,ENST00000361203,;DST,missense_variant,p.Met1370Leu,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Met1370Leu,ENST00000421834,;DST,missense_variant,p.Met1044Leu,ENST00000244364,NM_015548.4;DST,missense_variant,p.Met1044Leu,ENST00000439203,;DST,missense_variant,p.Met1044Leu,ENST00000370765,NM_001723.5;DST,missense_variant,p.Met1410Leu,ENST00000520645,;DST,missense_variant,p.Met1044Leu,ENST00000518935,;DST,missense_variant,p.Met42Leu,ENST00000522360,;							MODERATE	3130/15516	M1370L	DYST_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000244364		CCDS47443.1			1	
SYNE2	0	LGGM	GRCh37	14	64542673	64542673	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	26	15	.	.	ENST00000358025.3:c.10877G>C	p.Ser3626Thr	p.S3626T	ENST00000358025	NM_182914.2	3626	aGc/aCc	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		41	0.975		HGNC	p.S260T		SYNE2		SNV			1				ENST00000555002	protein_coding	getma.org/?cm=var&var=hg19,14,64542673,G,C&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		S/T		C	low	11089/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=2327&re=3682&var=S3626T		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Ser3626Thr,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ser3626Thr,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ser3659Thr,ENST00000554584,;SYNE2,missense_variant,p.Ser260Thr,ENST00000555002,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,5_prime_UTR_variant,,ENST00000394768,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557060,;							MODERATE	10877/20658	S3626T	SYNE2_HUMAN			Transcript		benign(0.061)	.	ENSP00000341781		CCDS41963.1			1	
CIZ1	0	LGGM	GRCh37	9	130931709	130931709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	6	15	.	.	ENST00000393608.1:c.2121G>T	p.Gln707His	p.Q707H	ENST00000393608	NM_012127.2	707	caG/caT	0	1		UPI0000141722	0	NA	ENST00000372938		ENSG00000148337	16744		21	0.69		HGNC	p.Q678H		CIZ1		SNV							ENST00000325721	protein_coding	getma.org/?cm=var&var=hg19,9,130931709,C,A&fts=all		hmmpanther:PTHR15491,hmmpanther:PTHR15491:SF9,PROSITE_patterns:PS00028,Pfam_domain:PF12171,SMART_domains:SM00451,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/H		A	neutral	2284/2984		getma.org/?cm=msa&ty=f&p=CIZ1_HUMAN&rb=664&re=730&var=Q707H	deleterious(0.02)	Q9Y3F8_HUMAN,F6WSM2_HUMAN,F6VD24_HUMAN,B0EXJ7_HUMAN				CIZ1,missense_variant,p.Gln733His,ENST00000538431,NM_001257975.1;CIZ1,missense_variant,p.Gln707His,ENST00000393608,NM_012127.2;CIZ1,missense_variant,p.Gln707His,ENST00000372938,NM_001131016.1;CIZ1,missense_variant,p.Gln679His,ENST00000357558,NM_001131017.1;CIZ1,missense_variant,p.Gln678His,ENST00000325721,;CIZ1,missense_variant,p.Gln651His,ENST00000372948,NM_001131015.1;CIZ1,missense_variant,p.Gln606His,ENST00000541172,NM_001257976.1;CIZ1,missense_variant,p.Gln679His,ENST00000277465,;CIZ1,missense_variant,p.Gln627His,ENST00000372954,NM_001131018.1;CIZ1,missense_variant,p.Gln629His,ENST00000415526,;CIZ1,non_coding_transcript_exon_variant,,ENST00000476727,;CIZ1,non_coding_transcript_exon_variant,,ENST00000471839,;CIZ1,non_coding_transcript_exon_variant,,ENST00000471773,;CIZ1,upstream_gene_variant,,ENST00000485862,;CIZ1,upstream_gene_variant,,ENST00000461765,;CIZ1,upstream_gene_variant,,ENST00000485001,;CIZ1,upstream_gene_variant,,ENST00000491487,;CIZ1,non_coding_transcript_exon_variant,,ENST00000476541,;							MODERATE	2121/2697	Q707H	CIZ1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000362029		CCDS6894.1			1	
TSC22D1	0	LGGM	GRCh37	13	45148413	45148413	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	5	15	.	.	ENST00000458659.2:c.1798T>G	p.Leu600Val	p.L600V	ENST00000458659	NM_183422.3	600	Ttg/Gtg	0	1	1	UPI0000D61A6B	0	NA	ENST00000458659		ENSG00000102804	16826		20	0.895		HGNC	p.L600V		TSC22D1		SNV							ENST00000458659	protein_coding	getma.org/?cm=var&var=hg19,13,45148413,A,C&fts=all		hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17		L/V		C	low	2289/4820		getma.org/?cm=msa&ty=f&p=T22D1_HUMAN&rb=476&re=969&var=L600V	tolerated(0.63)	C9IZ15_HUMAN			YES	TSC22D1,missense_variant,p.Leu600Val,ENST00000458659,NM_183422.3;TSC22D1,intron_variant,,ENST00000501704,NM_001243799.1;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,;							MODERATE	1798/3222	L600V	T22D1_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000397435		CCDS31966.1			1	
LRRC8E	0	LGGM	GRCh37	19	7963997	7963997	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	17	16	.	.	ENST00000306708.6:c.590A>G	p.Lys197Arg	p.K197R	ENST00000306708	NM_025061.4	197	aAg/aGg	0	1	1	UPI0000201F4F	0	NA	ENST00000306708		ENSG00000171017	26272		33	0		HGNC	p.K197R	rs775550702	LRRC8E		SNV							ENST00000306708	protein_coding	getma.org/?cm=var&var=hg19,19,7963997,A,G&fts=all		Low_complexity_(Seg):seg		K/R		G	neutral	691/3595	3.03E-05	getma.org/?cm=msa&ty=f&p=LRC8E_HUMAN&rb=150&re=349&var=K197R	tolerated(0.42)	M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN			YES	LRRC8E,missense_variant,p.Lys197Arg,ENST00000306708,NM_025061.4,NM_001268285.1,NM_001268284.1;LRRC8E,missense_variant,p.Lys68Arg,ENST00000600345,;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,;RN7SL115P,downstream_gene_variant,,ENST00000392196,;MAP2K7,upstream_gene_variant,,ENST00000468058,;MAP2K7,upstream_gene_variant,,ENST00000475022,;							MODERATE	590/2391	K197R	LRC8E_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000306524	1.65E-05	CCDS12189.1			1	
ICOS	0	LGGM	GRCh37	2	204801557	204801557	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	31	16	.	.	ENST00000316386.6:c.20A>T	p.Tyr7Phe	p.Y7F	ENST00000316386	NM_012092.3	7	tAt/tTt	0	1	1	UPI0000031001	0	NA	ENST00000316386		ENSG00000163600	5351		47	1.79		HGNC	p.Y7F		ICOS		SNV			1				ENST00000316386	protein_coding	getma.org/?cm=var&var=hg19,2,204801557,A,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR20904:SF0,hmmpanther:PTHR20904		Y/F		T	low	87/2645		getma.org/?cm=msa&ty=f&p=ICOS_HUMAN&rb=1&re=196&var=Y7F	tolerated(0.42)	Q53QY6_HUMAN			YES	ICOS,missense_variant,p.Tyr7Phe,ENST00000316386,NM_012092.3;ICOS,missense_variant,p.Tyr7Phe,ENST00000435193,;							MODERATE	20/600	Y7F	ICOS_HUMAN			Transcript		benign(0.288)	.	ENSP00000319476		CCDS2363.1			1	
PCDHB2	0	LGGM	GRCh37	5	140476040	140476040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	14	16	.	.	ENST00000194155.4:c.1666G>T	p.Ala556Ser	p.A556S	ENST00000194155	NM_018936.2	556	Gcc/Tcc	0	1	1	UPI00001273DC	0	getma.org/pdb.php?prot=PCDB2_HUMAN&from=458&to=563&var=A556S	ENST00000194155		ENSG00000112852	8687		30	0.62		HGNC	p.A556S		PCDHB2		SNV							ENST00000194155	protein_coding	getma.org/?cm=var&var=hg19,5,140476040,G,T&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/S		T	neutral	1814/2736		getma.org/?cm=msa&ty=f&p=PCDB2_HUMAN&rb=458&re=563&var=A556S	tolerated_low_confidence(0.24)				YES	PCDHB2,missense_variant,p.Ala556Ser,ENST00000194155,NM_018936.2;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.2;AC005754.7,downstream_gene_variant,,ENST00000607216,;							MODERATE	1666/2397	A556S	PCDB2_HUMAN			Transcript		benign(0.411)	.	ENSP00000194155		CCDS4244.1			1	
UQCRQ	0	LGGM	GRCh37	5	132203195	132203195	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	37	16	.	.	ENST00000378670.3:c.170A>T	p.Tyr57Phe	p.Y57F	ENST00000378670	NM_014402.4	57	tAt/tTt	0	1		UPI000015D476	0		ENST00000378665		ENSG00000164405	29594		53			HGNC	p.Y57F		UQCRQ		SNV			1				ENST00000378670	protein_coding			hmmpanther:PTHR12119,Gene3D:1.20.5.210,Pfam_domain:PF02939,Superfamily_domains:SSF81508		Y/F		T		406/586			deleterious(0.01)					UQCRQ,missense_variant,p.Tyr57Phe,ENST00000378670,NM_014402.4;UQCRQ,missense_variant,p.Tyr57Phe,ENST00000378665,;UQCRQ,missense_variant,p.Tyr57Phe,ENST00000378667,;GDF9,upstream_gene_variant,,ENST00000378673,NM_001288828.1,NM_001288825.1;LEAP2,upstream_gene_variant,,ENST00000296877,NM_052971.2;GDF9,upstream_gene_variant,,ENST00000296875,NM_005260.3;UQCRQ,non_coding_transcript_exon_variant,,ENST00000496429,;GDF9,upstream_gene_variant,,ENST00000464378,;GDF9,upstream_gene_variant,,ENST00000472320,;UQCRQ,non_coding_transcript_exon_variant,,ENST00000498309,;UQCRQ,downstream_gene_variant,,ENST00000480372,;							MODERATE	170/249		QCR8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000367934		CCDS34237.1			1	
CDH23	0	LGGM	GRCh37	10	73492019	73492019	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	22	16	.	.	ENST00000224721.6:c.4006G>T	p.Glu1336Ter	p.E1336*	ENST00000224721	NM_022124.5	1336	Gag/Tag	0	1	1	UPI0002B831D5	0	NA	ENST00000224721		ENSG00000107736	13733		38	0		HGNC	p.E152X		CDH23		SNV			1				ENST00000398792	protein_coding	getma.org/?cm=var&var=hg19,10,73492019,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313		E/*		T	NA	4011/10085		NA						CDH23,stop_gained,p.Glu1336Ter,ENST00000224721,NM_022124.5;C10orf105,intron_variant,,ENST00000398786,NM_001168390.1;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;							HIGH	4006/10080	E1331*				Transcript			.	ENSP00000224721					1	
ZNF277	0	LGGM	GRCh37	7	111927087	111927087	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	111	16	.	.	ENST00000361822.3:c.251A>G	p.Lys84Arg	p.K84R	ENST00000361822	NM_021994.2	84	aAg/aGg	0	1	1	UPI00000437E2	0	NA	ENST00000361822		ENSG00000198839	13070		127	0.98		HGNC	p.K84R		ZNF277		SNV							ENST00000450657	protein_coding	getma.org/?cm=var&var=hg19,7,111927087,A,G&fts=all		Pfam_domain:PF12756,hmmpanther:PTHR13267,hmmpanther:PTHR13267:SF3		K/R		G	low	380/1849		getma.org/?cm=msa&ty=f&p=ZN277_HUMAN&rb=58&re=128&var=K84R	deleterious(0.04)	C9J3B6_HUMAN,A4D0S7_HUMAN			YES	ZNF277,missense_variant,p.Lys84Arg,ENST00000421043,;ZNF277,missense_variant,p.Lys84Arg,ENST00000361822,NM_021994.2;ZNF277,missense_variant,p.Lys84Arg,ENST00000450657,;ZNF277,missense_variant,p.Lys84Arg,ENST00000425229,;RN7SKP187,upstream_gene_variant,,ENST00000365536,;ZNF277,missense_variant,p.Lys84Arg,ENST00000457808,;ZNF277,3_prime_UTR_variant,,ENST00000361946,;							MODERATE	251/1353	K84R	ZN277_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000354501		CCDS5755.2			1	
ZNF571	0	LGGM	GRCh37	19	38056810	38056810	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	17	.	.	ENST00000328550.2:c.520A>T	p.Asn174Tyr	p.N174Y	ENST00000328550		174	Aat/Tat	0	1	1	UPI000020220A	0	getma.org/pdb.php?prot=ZN571_HUMAN&from=163&to=180&var=N174Y	ENST00000328550		ENSG00000180479	25000		41	0.32		HGNC	p.N174Y		ZNF571		SNV							ENST00000358744	protein_coding	getma.org/?cm=var&var=hg19,19,38056810,T,A&fts=all		Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF141,PROSITE_profiles:PS50157		N/Y		A	neutral	620/3844		getma.org/?cm=msa&ty=f&p=ZN571_HUMAN&rb=133&re=210&var=N174Y	deleterious(0)				YES	ZNF571,missense_variant,p.Asn174Tyr,ENST00000328550,;ZNF571,missense_variant,p.Asn174Tyr,ENST00000593133,;ZNF571,missense_variant,p.Asn174Tyr,ENST00000451802,NM_016536.3;ZNF571,missense_variant,p.Asn174Tyr,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,upstream_gene_variant,,ENST00000591177,;							MODERATE	520/1830	N174Y	ZN571_HUMAN			Transcript		benign(0.064)	.	ENSP00000333660		CCDS12505.1			1	
EFS	0	LGGM	GRCh37	14	23828630	23828630	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	42	17	.	.	ENST00000216733.3:c.1057G>T	p.Glu353Ter	p.E353*	ENST00000216733	NM_005864.3	353	Gag/Tag	0	1	1	UPI0000129D21	0	NA	ENST00000216733		ENSG00000100842	16898		59	0		HGNC	p.E184X	rs774219426	EFS		SNV							ENST00000429593	protein_coding	getma.org/?cm=var&var=hg19,14,23828630,C,A&fts=all		hmmpanther:PTHR10654:SF13,hmmpanther:PTHR10654		E/*		A	NA	1665/3118	1.59E-05	NA					YES	EFS,stop_gained,p.Glu353Ter,ENST00000216733,NM_005864.3;EFS,stop_gained,p.Glu260Ter,ENST00000351354,NM_032459.2,NM_001277174.1;EFS,stop_gained,p.Glu184Ter,ENST00000429593,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;							HIGH	1057/1686	E353*	EFS_HUMAN			Transcript			.	ENSP00000216733	8.31E-06	CCDS9595.1			1	
RTP4	0	LGGM	GRCh37	3	187088988	187088988	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	23	17	.	.	ENST00000259030.2:c.568A>G	p.Ile190Val	p.I190V	ENST00000259030	NM_022147.2	190	Att/Gtt	0	1	1	UPI000013D021	0	NA	ENST00000259030		ENSG00000136514	23992		40	0		HGNC	p.I190V		RTP4		SNV							ENST00000259030	protein_coding	getma.org/?cm=var&var=hg19,3,187088988,A,G&fts=all		hmmpanther:PTHR14402:SF8,hmmpanther:PTHR14402		I/V		G	neutral	678/1554		getma.org/?cm=msa&ty=f&p=RTP4_HUMAN&rb=161&re=246&var=I190V	tolerated(0.51)				YES	RTP4,missense_variant,p.Ile190Val,ENST00000259030,NM_022147.2;							MODERATE	568/741	I190V	RTP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000259030		CCDS33910.1			1	
ZNF467	0	LGGM	GRCh37	7	149463288	149463288	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	31	18	.	.	ENST00000302017.3:c.303A>G	p.Glu101=	p.E101=	ENST00000302017	NM_207336.1	101	gaA/gaG	0	1	1	UPI0000160B41	0		ENST00000302017		ENSG00000181444	23154		49			HGNC	p.E101E		ZNF467		SNV							ENST00000302017	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF14,Low_complexity_(Seg):seg		E		C		717/2553							YES	ZNF467,synonymous_variant,p.=,ENST00000302017,NM_207336.1;ZNF467,intron_variant,,ENST00000484747,;							LOW	303/1788		ZN467_HUMAN			Transcript			.	ENSP00000304769		CCDS5899.1			1	
NPHP3	0	LGGM	GRCh37	3	132411554	132411554	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	18	.	.	ENST00000337331.5:c.2419T>C	p.Tyr807His	p.Y807H	ENST00000337331	NM_153240.4	807	Tac/Cac	0	1	1	UPI00001B6B30	0	NA	ENST00000337331		ENSG00000113971	7907		47	-0.69		HGNC	p.Y807H		NPHP3		SNV			1				ENST00000337331	protein_coding	getma.org/?cm=var&var=hg19,3,132411554,A,G&fts=all		hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959		Y/H		G	neutral	2506/4362		getma.org/?cm=msa&ty=f&p=NPHP3_HUMAN&rb=688&re=887&var=Y807H	tolerated(0.76)				YES	NPHP3,missense_variant,p.Tyr807His,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,,ENST00000474871,;NPHP3,non_coding_transcript_exon_variant,,ENST00000515289,;							MODERATE	2419/3993	Y807H	NPHP3_HUMAN			Transcript		benign(0)	.	ENSP00000338766		CCDS3078.1			1	
FAM162B	0	LGGM	GRCh37	6	117086409	117086409	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	18	.	.	ENST00000368557.4:c.182A>T	p.His61Leu	p.H61L	ENST00000368557	NM_001085480.2	61	cAc/cTc	0	1	1	UPI00000373BF	0	NA	ENST00000368557		ENSG00000183807	21549		39	1.845		HGNC	p.H61L		FAM162B		SNV							ENST00000368557	protein_coding	getma.org/?cm=var&var=hg19,6,117086409,T,A&fts=all		hmmpanther:PTHR13674:SF3,hmmpanther:PTHR13674,Pfam_domain:PF06388		H/L		A	low	329/1033		getma.org/?cm=msa&ty=f&p=F162B_HUMAN&rb=12&re=160&var=H61L	tolerated(0.06)				YES	FAM162B,missense_variant,p.His61Leu,ENST00000368557,NM_001085480.2;							MODERATE	182/489	H61L	F162B_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000357545		CCDS43497.1			1	
CCDC181	0	LGGM	GRCh37	1	169394136	169394136	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	55	18	.	.	ENST00000545005.1:c.30G>T	p.Lys10Asn	p.K10N	ENST00000545005		10	aaG/aaT	0	1		UPI0000204D36	0	NA	ENST00000367806		ENSG00000117477	28051		73	1.79		HGNC	p.K10N		CCDC181		SNV							ENST00000545005	protein_coding	getma.org/?cm=var&var=hg19,1,169394136,C,A&fts=all		hmmpanther:PTHR14320,hmmpanther:PTHR14320:SF1		K/N		A	low	183/1860		getma.org/?cm=msa&ty=f&p=CA114_HUMAN&rb=1&re=507&var=K10N	tolerated(0.12)					CCDC181,missense_variant,p.Lys10Asn,ENST00000545005,;CCDC181,missense_variant,p.Lys10Asn,ENST00000367805,;CCDC181,missense_variant,p.Lys10Asn,ENST00000367806,NM_021179.1;CCDC181,missense_variant,p.Lys10Asn,ENST00000456107,;CCDC181,non_coding_transcript_exon_variant,,ENST00000491570,;							MODERATE	30/1530	K10N	CC181_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000356780					1	
ALB	0	LGGM	GRCh37	4	74274431	74274431	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	25	18	.	.	ENST00000295897.4:c.391G>A	p.Asp131Asn	p.D131N	ENST00000295897	NM_000477.5	131	Gat/Aat	0	1	1	UPI000002C1AC	0	getma.org/pdb.php?prot=ALBU_HUMAN&from=28&to=202&var=D131N	ENST00000295897		ENSG00000163631	399		43	1.12		HGNC	p.D131N	COSM343675	ALB		SNV			1			1	ENST00000509063	protein_coding	getma.org/?cm=var&var=hg19,4,74274431,G,A&fts=all		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		D/N		A	low	480/2263		getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=28&re=202&var=D131N	tolerated(0.92)				YES	ALB,missense_variant,p.Asp131Asn,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Asp131Asn,ENST00000509063,;ALB,missense_variant,p.Asp133Asn,ENST00000441319,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000507673,;					1		MODERATE	391/1830	D131N	ALBU_HUMAN			Transcript		benign(0.008)	.	ENSP00000295897		CCDS3555.1			1	
PLEKHH1	0	LGGM	GRCh37	14	68040096	68040096	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	35	18	.	.	ENST00000329153.5:c.1832A>T	p.Lys611Met	p.K611M	ENST00000329153	NM_020715.2	611	aAg/aTg	0	1	1	UPI00001C1F64	0	getma.org/pdb.php?prot=PKHH1_HUMAN&from=579&to=672&var=K611M	ENST00000329153		ENSG00000054690	17733		53	3.24		HGNC	p.K611M		PLEKHH1		SNV							ENST00000329153	protein_coding	getma.org/?cm=var&var=hg19,14,68040096,A,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		K/M		T	medium	1964/6604		getma.org/?cm=msa&ty=f&p=PKHH1_HUMAN&rb=579&re=672&var=K611M	deleterious(0)	B3KWD2_HUMAN			YES	PLEKHH1,missense_variant,p.Lys611Met,ENST00000329153,NM_020715.2;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558981,;PLEKHH1,downstream_gene_variant,,ENST00000561456,;PLEKHH1,downstream_gene_variant,,ENST00000561135,;							MODERATE	1832/4095	K611M	PKHH1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000330278		CCDS45128.1			1	
SCG2	0	LGGM	GRCh37	2	224462314	224462314	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	20	19	.	.	ENST00000305409.2:c.1687G>A	p.Ala563Thr	p.A563T	ENST00000305409	NM_003469.4	563	Gcc/Acc	0	1	1	UPI000013EA45	0	NA	ENST00000305409		ENSG00000171951	10575		39	1.265		HGNC	p.A563T		SCG2		SNV							ENST00000305409	protein_coding	getma.org/?cm=var&var=hg19,2,224462314,C,T&fts=all		Pfam_domain:PF01271,hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0		A/T		T	low	1920/2576		getma.org/?cm=msa&ty=f&p=SCG2_HUMAN&rb=27&re=614&var=A563T	tolerated(0.33)	C9JQI2_HUMAN,C9JDT0_HUMAN			YES	SCG2,missense_variant,p.Ala563Thr,ENST00000305409,NM_003469.4;SCG2,downstream_gene_variant,,ENST00000421386,;SCG2,downstream_gene_variant,,ENST00000433889,;							MODERATE	1687/1854	A563T	SCG2_HUMAN			Transcript		benign(0.014)	.	ENSP00000304133		CCDS2457.1			1	
PRDM13	0	LGGM	GRCh37	6	100054985	100054985	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	16	19	.	.	ENST00000369215.4:c.75A>T	p.Gly25=	p.G25=	ENST00000369215	NM_021620.3	25	ggA/ggT	0	1	1	UPI000047099D	0		ENST00000369215		ENSG00000112238	13998		35			HGNC	p.G25G		PRDM13		SNV							ENST00000369214	protein_coding			PROSITE_profiles:PS50280,hmmpanther:PTHR23228:SF119,hmmpanther:PTHR23228,Gene3D:2.170.270.10		G		T		380/2429				Q7Z5E7_HUMAN			YES	PRDM13,synonymous_variant,p.=,ENST00000369215,NM_021620.3;PRDM13,synonymous_variant,p.=,ENST00000369214,;							LOW	75/2124		PRD13_HUMAN			Transcript			.	ENSP00000358217		CCDS43487.1			1	
PRICKLE1	0	LGGM	GRCh37	12	42864083	42864083	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	19	.	.	ENST00000455697.1:c.211C>G	p.Gln71Glu	p.Q71E	ENST00000455697	NM_001144883.1	71	Cag/Gag	0	1		UPI000013D6F5	0	NA	ENST00000345127		ENSG00000139174	17019		40	3.53		HGNC	p.Q71E		PRICKLE1		SNV			1				ENST00000552240	protein_coding	getma.org/?cm=var&var=hg19,12,42864083,G,C&fts=all		Pfam_domain:PF06297,PROSITE_profiles:PS51303,hmmpanther:PTHR24211,hmmpanther:PTHR24211:SF14		Q/E		C	high	471/3315		getma.org/?cm=msa&ty=f&p=PRIC1_HUMAN&rb=13&re=118&var=Q71E	deleterious(0)	Q687H4_HUMAN,Q687H3_HUMAN,F8W1Q8_HUMAN,F8W1J1_HUMAN,F8VUG8_HUMAN				PRICKLE1,missense_variant,p.Gln71Glu,ENST00000455697,NM_001144883.1,NM_001144882.1;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000445766,;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000548696,;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000552240,NM_001144881.1;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000345127,NM_153026.2;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000551050,;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000552108,;PRICKLE1,missense_variant,p.Gln71Glu,ENST00000547113,;RP11-328C8.4,downstream_gene_variant,,ENST00000547824,;							MODERATE	211/2496	Q71E	PRIC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345064		CCDS8742.1			1	
SAMD9L	0	LGGM	GRCh37	7	92760698	92760698	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	70	19	.	.	ENST00000318238.4:c.4587T>A	p.Ala1529=	p.A1529=	ENST00000318238	NM_152703.2	1529	gcT/gcA	0	1	1	UPI000020F567	0		ENST00000318238		ENSG00000177409	1349		89			HGNC	p.A1529A		SAMD9L		SNV							ENST00000437805	protein_coding			hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		A		T		5804/7134				B4E3M1_HUMAN			YES	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,;							LOW	4587/4755		SAM9L_HUMAN			Transcript			.	ENSP00000326247		CCDS34681.1			1	
HTR1F	0	LGGM	GRCh37	3	88040998	88040998	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	22	19	.	.	ENST00000319595.4:c.1099T>A	p.Ter367LysextTer2	p.*367Kext*2	ENST00000319595	NM_000866.3	367	Tag/Aag	0	1	1	UPI00000503DF	0		ENST00000319595		ENSG00000179097	5292		41			HGNC	p.X367K		HTR1F		SNV							ENST00000319595	protein_coding					*/K		A		1153/3074				Q9P2Q4_HUMAN			YES	HTR1F,stop_lost,p.Ter367LysextTer2,ENST00000319595,NM_000866.3;							HIGH	1099/1101		5HT1F_HUMAN			Transcript			.	ENSP00000322924		CCDS2920.1			1	
MARK3	0	LGGM	GRCh37	14	103871479	103871479	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	22	19	.	.	ENST00000429436.2:c.118A>C	p.Arg40=	p.R40=	ENST00000429436	NM_001128918.1	40	Aga/Cga	0	1	1	UPI00004567CC	0		ENST00000429436		ENSG00000075413	6897		41			HGNC	p.R40R		MARK3		SNV							ENST00000429436	protein_coding			hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF1		R		C		628/3371				Q86U11_HUMAN			YES	MARK3,synonymous_variant,p.=,ENST00000429436,NM_001128918.1,NM_001128919.1;MARK3,synonymous_variant,p.=,ENST00000303622,NM_001128920.1,NM_002376.5;MARK3,synonymous_variant,p.=,ENST00000416682,;MARK3,synonymous_variant,p.=,ENST00000216288,;MARK3,synonymous_variant,p.=,ENST00000440884,NM_001128921.1;MARK3,synonymous_variant,p.=,ENST00000335102,;MARK3,synonymous_variant,p.=,ENST00000553942,;MARK3,synonymous_variant,p.=,ENST00000560417,;MARK3,synonymous_variant,p.=,ENST00000561225,;MARK3,non_coding_transcript_exon_variant,,ENST00000561071,;MARK3,non_coding_transcript_exon_variant,,ENST00000560603,;MARK3,non_coding_transcript_exon_variant,,ENST00000559328,;MARK3,non_coding_transcript_exon_variant,,ENST00000558223,;							LOW	118/2262		MARK3_HUMAN			Transcript			.	ENSP00000411397		CCDS45165.1			1	
ZBTB5	0	LGGM	GRCh37	9	37442295	37442295	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	51	19	.	.	ENST00000307750.4:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000307750	NM_014872.2	85	tAt/tGt	0	1	1	UPI000006FAE2	0	getma.org/pdb.php?prot=ZBTB5_HUMAN&from=14&to=123&var=Y85C	ENST00000307750		ENSG00000168795	23836		70	4.36		HGNC	p.Y85C		ZBTB5		SNV							ENST00000307750	protein_coding	getma.org/?cm=var&var=hg19,9,37442295,T,C&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF68,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		Y/C		C	high	443/4627		getma.org/?cm=msa&ty=f&p=ZBTB5_HUMAN&rb=14&re=123&var=Y85C	deleterious(0)	Q5T942_HUMAN			YES	ZBTB5,missense_variant,p.Tyr85Cys,ENST00000307750,NM_014872.2;							MODERATE	254/2034	Y85C	ZBTB5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307604		CCDS6610.1			1	
SMC3	0	LGGM	GRCh37	10	112349696	112349696	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	56	19	.	.	ENST00000361804.4:c.1456A>G	p.Lys486Glu	p.K486E	ENST00000361804	NM_005445.3	486	Aaa/Gaa	0	1	1	UPI0000135A8D	0	NA	ENST00000361804		ENSG00000108055	2468		75	0.205		HGNC	p.K486E		SMC3		SNV			1				ENST00000361804	protein_coding	getma.org/?cm=var&var=hg19,10,112349696,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164		K/E		G	neutral	1582/4114		getma.org/?cm=msa&ty=f&p=SMC3_HUMAN&rb=2&re=1197&var=K486E	tolerated(0.22)				YES	SMC3,missense_variant,p.Lys486Glu,ENST00000361804,NM_005445.3;							MODERATE	1456/3654	K486E	SMC3_HUMAN			Transcript		benign(0.034)	.	ENSP00000354720		CCDS31285.1			1	
ALDH3A1	0	LGGM	GRCh37	17	19646770	19646770	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	20	.	.	ENST00000457500.2:c.169T>C	p.Trp57Arg	p.W57R	ENST00000457500	NM_001135168.1	57	Tgg/Cgg	0	1		UPI000013C87C	0	getma.org/pdb.php?prot=AL3A1_HUMAN&from=1&to=428&var=W57R	ENST00000225740		ENSG00000108602	405		49	-0.67		HGNC	p.W57R	COSM361875	ALDH3A1		SNV						1	ENST00000444455	protein_coding	getma.org/?cm=var&var=hg19,17,19646770,A,G&fts=all		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF105,Pfam_domain:PF00171,Gene3D:3.40.605.10,PIRSF_domain:PIRSF036492,Superfamily_domains:SSF53720		W/R		G	neutral	349/1779		getma.org/?cm=msa&ty=f&p=AL3A1_HUMAN&rb=1&re=428&var=W57R	tolerated(0.09)	I3L4E5_HUMAN,I3L3W9_HUMAN,I3L3I9_HUMAN,I3L1H6_HUMAN,C9JMC5_HUMAN				ALDH3A1,missense_variant,p.Trp57Arg,ENST00000457500,NM_001135168.1;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000225740,NM_000691.4;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000444455,NM_001135167.1;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000395555,;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000439102,;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000574162,;ALDH3A1,missense_variant,p.Trp47Arg,ENST00000426645,;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000570414,;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000573368,;ALDH3A1,5_prime_UTR_variant,,ENST00000494157,;RP11-311F12.2,downstream_gene_variant,,ENST00000580884,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000485231,;ALDH3A1,missense_variant,p.Trp57Arg,ENST00000468746,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000479677,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000485472,;ALDH3A1,non_coding_transcript_exon_variant,,ENST00000575860,;ALDH3A1,upstream_gene_variant,,ENST00000487650,;ALDH3A1,downstream_gene_variant,,ENST00000575103,;					1		MODERATE	169/1362	W57R	AL3A1_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000225740		CCDS11212.1			1	
PCDHB16	0	LGGM	GRCh37	5	140562744	140562744	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	38	20	.	.	ENST00000361016.2:c.610G>C	p.Glu204Gln	p.E204Q	ENST00000361016	NM_020957.1	204	Gag/Cag	0	1	1	UPI000006D372	0	getma.org/pdb.php?prot=PCDBG_HUMAN&from=139&to=233&var=E204Q	ENST00000361016		ENSG00000196963	14546		58	1.505		HGNC	p.E204Q		PCDHB16		SNV							ENST00000361016	protein_coding	getma.org/?cm=var&var=hg19,5,140562744,G,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/Q		C	low	1765/4814		getma.org/?cm=msa&ty=f&p=PCDBG_HUMAN&rb=139&re=233&var=E204Q	deleterious_low_confidence(0.03)				YES	PCDHB16,missense_variant,p.Glu204Gln,ENST00000361016,NM_020957.1;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.3;PCDHB9,upstream_gene_variant,,ENST00000316105,;							MODERATE	610/2331	E204Q	PCDBG_HUMAN			Transcript		benign(0.082)	.	ENSP00000354293		CCDS4251.1			1	
ITGA3	0	LGGM	GRCh37	17	48145430	48145430	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	20	.	.	ENST00000007722.7:c.425A>T	p.His142Leu	p.H142L	ENST00000007722		142	cAc/cTc	0	1		UPI000002AC1A	0	getma.org/pdb.php?prot=ITA3_HUMAN&from=1&to=200&var=H142L	ENST00000320031		ENSG00000005884	6139		44	2.495		HGNC	p.H142L		ITGA3		SNV			1				ENST00000320031	protein_coding	getma.org/?cm=var&var=hg19,17,48145430,A,T&fts=all		PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,Gene3D:3nigC00,Superfamily_domains:SSF69318		H/L		T	medium	755/4888		getma.org/?cm=msa&ty=f&p=ITA3_HUMAN&rb=1&re=200&var=H142L	deleterious(0)	B4E0H8_HUMAN				ITGA3,missense_variant,p.His142Leu,ENST00000320031,NM_002204.2,NM_005501.2;ITGA3,missense_variant,p.His142Leu,ENST00000007722,;ITGA3,intron_variant,,ENST00000544892,;ITGA3,upstream_gene_variant,,ENST00000512553,;ITGA3,non_coding_transcript_exon_variant,,ENST00000505306,;ITGA3,intron_variant,,ENST00000506401,;ITGA3,downstream_gene_variant,,ENST00000570989,;ITGA3,upstream_gene_variant,,ENST00000505552,;ITGA3,downstream_gene_variant,,ENST00000508100,;ITGA3,upstream_gene_variant,,ENST00000510809,;							MODERATE	425/3156	H142L	ITA3_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000315190		CCDS11558.1			1	
APOB	0	LGGM	GRCh37	2	21229274	21229274	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	38	20	.	.	ENST00000233242.1:c.10466A>C	p.Tyr3489Ser	p.Y3489S	ENST00000233242	NM_000384.2	3489	tAc/tCc	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		58	2.38		HGNC	p.Y3489S		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21229274,T,G&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		Y/S		G	medium	10594/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3440&re=4087&var=Y3489S		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Tyr3489Ser,ENST00000233242,NM_000384.2;							MODERATE	10466/13692	Y3489S	APOB_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000233242		CCDS1703.1			1	
HERC2	0	LGGM	GRCh37	15	28380829	28380829	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	23	20	.	.	ENST00000261609.7:c.12025A>T	p.Thr4009Ser	p.T4009S	ENST00000261609	NM_004667.5	4009	Act/Tct	0	1	1	UPI00004578F7	0	getma.org/pdb.php?prot=HERC2_HUMAN&from=4003&to=4054&var=T4009S	ENST00000261609		ENSG00000128731	4868		43	0.835		HGNC	p.T4009S		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28380829,T,A&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Low_complexity_(Seg):seg,SMART_domains:SM00706,Superfamily_domains:SSF50985		T/S		A	low	12134/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=4003&re=4054&var=T4009S					YES	HERC2,missense_variant,p.Thr4009Ser,ENST00000261609,NM_004667.5;							MODERATE	12025/14505	T4009S	HERC2_HUMAN			Transcript		benign(0.171)	.	ENSP00000261609		CCDS10021.1			1	
ADAM11	0	LGGM	GRCh37	17	42854948	42854948	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	25	20	.	.	ENST00000200557.6:c.1880A>T	p.Gln627Leu	p.Q627L	ENST00000200557	NM_002390.4	627	cAg/cTg	0	1	1	UPI000013C629	0	getma.org/pdb.php?prot=ADA11_HUMAN&from=531&to=649&var=Q627L	ENST00000200557		ENSG00000073670	189		45	1.71		HGNC	p.Q627L		ADAM11		SNV							ENST00000200557	protein_coding	getma.org/?cm=var&var=hg19,17,42854948,A,T&fts=all		Pfam_domain:PF08516,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF114,SMART_domains:SM00608		Q/L		T	low	2049/4571		getma.org/?cm=msa&ty=f&p=ADA11_HUMAN&rb=531&re=649&var=Q627L	tolerated(0.08)				YES	ADAM11,missense_variant,p.Gln627Leu,ENST00000200557,NM_002390.4;ADAM11,missense_variant,p.Gln427Leu,ENST00000535346,;ADAM11,3_prime_UTR_variant,,ENST00000355638,;ADAM11,3_prime_UTR_variant,,ENST00000587773,;ADAM11,non_coding_transcript_exon_variant,,ENST00000588363,;							MODERATE	1880/2310	Q627L	ADA11_HUMAN			Transcript		benign(0.004)	.	ENSP00000200557		CCDS11486.1			1	
APOB	0	LGGM	GRCh37	2	21229258	21229258	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	42	20	.	.	ENST00000233242.1:c.10482A>G	p.Ser3494=	p.S3494=	ENST00000233242	NM_000384.2	3494	tcA/tcG	0	1	1	UPI0000141B94	0		ENST00000233242		ENSG00000084674	603		62			HGNC	p.S3494S		APOB		SNV			1				ENST00000233242	protein_coding			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		S		C		10610/14121				S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;							LOW	10482/13692		APOB_HUMAN			Transcript			.	ENSP00000233242		CCDS1703.1			1	
RPL7L1	0	LGGM	GRCh37	6	42854177	42854177	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	10	21	.	.	ENST00000493763.1:c.716A>G	p.Asn239Ser	p.N239S	ENST00000493763	NM_198486.2	239	aAt/aGt	0	1		UPI00001D81E1	0	getma.org/pdb.php?prot=RL7L_HUMAN&from=139&to=246&var=N239S	ENST00000304734		ENSG00000146223	21370		31	2.26		HGNC	p.N239S	rs751803316	RPL7L1		SNV							ENST00000493763	protein_coding	getma.org/?cm=var&var=hg19,6,42854177,A,G&fts=all		Superfamily_domains:SSF55129,Gene3D:3.30.1390.20,TIGRFAM_domain:TIGR01310,hmmpanther:PTHR11524:SF13,hmmpanther:PTHR11524		N/S		G	medium	972/3769	2.45E-05	getma.org/?cm=msa&ty=f&p=RL7L_HUMAN&rb=139&re=246&var=N239S	deleterious(0.04)	B7Z4G0_HUMAN,A8K5J5_HUMAN				RPL7L1,missense_variant,p.Asn239Ser,ENST00000493763,NM_198486.2;RPL7L1,missense_variant,p.Asn239Ser,ENST00000304734,;RPL7L1,3_prime_UTR_variant,,ENST00000424341,;RPL7L1,downstream_gene_variant,,ENST00000602561,;C6orf226,downstream_gene_variant,,ENST00000408925,NM_001008739.1;RPL7L1,non_coding_transcript_exon_variant,,ENST00000397415,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000483998,;RPL7L1,downstream_gene_variant,,ENST00000462348,;RPL7L1,downstream_gene_variant,,ENST00000487619,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000459829,;RPL7L1,downstream_gene_variant,,ENST00000497417,;							MODERATE	716/741	N239S	RL7L_HUMAN			Transcript		benign(0.036)	.	ENSP00000346063	8.28E-06	CCDS4873.1			1	
ZNF484	0	LGGM	GRCh37	9	95609645	95609645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	21	.	.	ENST00000395506.3:c.1430A>G	p.Lys477Arg	p.K477R	ENST00000395506		477	aAg/aGg	0	1		UPI00001B64FA	0	getma.org/pdb.php?prot=ZN484_HUMAN&from=455&to=479&var=K475R	ENST00000375495		ENSG00000127081	23385		42	1.28		HGNC	p.K477R		ZNF484		SNV							ENST00000395506	protein_coding	getma.org/?cm=var&var=hg19,9,95609645,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF144,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/R		C	low	1573/2867		getma.org/?cm=msa&ty=f&p=ZN484_HUMAN&rb=435&re=499&var=K475R	tolerated(0.05)					ZNF484,missense_variant,p.Lys439Arg,ENST00000395505,NM_001261460.1,NM_001261459.1;ZNF484,missense_variant,p.Lys475Arg,ENST00000375495,NM_031486.2;ZNF484,missense_variant,p.Lys477Arg,ENST00000395506,;ZNF484,missense_variant,p.Lys439Arg,ENST00000332591,NM_001007101.2,NM_001261458.1;ANKRD19P,intron_variant,,ENST00000473204,;							MODERATE	1424/2559	K475R	ZN484_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000364645		CCDS35066.1			1	
ELL3	0	LGGM	GRCh37	15	44068044	44068044	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	34	22	.	.	ENST00000319359.3:c.359C>T	p.Pro120Leu	p.P120L	ENST00000319359	NM_025165.2	120	cCa/cTa	0	1	1	UPI0000073384	0	NA	ENST00000319359		ENSG00000128886	23113		56	2.39		HGNC	p.P150L		ELL3		SNV							ENST00000433927	protein_coding	getma.org/?cm=var&var=hg19,15,44068044,G,A&fts=all		hmmpanther:PTHR23288:SF14,hmmpanther:PTHR23288,Pfam_domain:PF10390		P/L		A	medium	1001/2352		getma.org/?cm=msa&ty=f&p=ELL3_HUMAN&rb=5&re=270&var=P120L	deleterious(0)				YES	ELL3,missense_variant,p.Pro120Leu,ENST00000319359,NM_025165.2;ELL3,missense_variant,p.Pro150Leu,ENST00000433927,;PDIA3,downstream_gene_variant,,ENST00000300289,NM_005313.4;PDIA3,downstream_gene_variant,,ENST00000538521,;SERF2,upstream_gene_variant,,ENST00000381359,NM_001199877.1;ELL3,non_coding_transcript_exon_variant,,ENST00000497530,;ELL3,non_coding_transcript_exon_variant,,ENST00000476335,;ELL3,upstream_gene_variant,,ENST00000497465,;SERF2,upstream_gene_variant,,ENST00000474290,;RP11-296A16.1,3_prime_UTR_variant,,ENST00000417761,;ELL3,non_coding_transcript_exon_variant,,ENST00000467869,;ELL3,non_coding_transcript_exon_variant,,ENST00000486851,;PDIA3,downstream_gene_variant,,ENST00000434494,;PDIA3,downstream_gene_variant,,ENST00000497349,;ELL3,downstream_gene_variant,,ENST00000497700,;							MODERATE	359/1194	P120L	ELL3_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000320346		CCDS10102.1			1	
VIPAS39	0	LGGM	GRCh37	14	77895387	77895387	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	22	.	.	ENST00000553888.1:c.1318T>C	p.Leu440=	p.L440=	ENST00000553888	NM_022067.3	440	Tta/Cta	0	1		UPI00000735EF	0		ENST00000343765		ENSG00000151445	20347		51			HGNC	p.L440L	rs371042846	VIPAS39		SNV	G:0		1				ENST00000557658	protein_coding			hmmpanther:PTHR13364:SF6,hmmpanther:PTHR13364,Pfam_domain:PF09787		L	G:0.0001	G		1656/2761	1.50E-05			Q6IA61_HUMAN,G3V549_HUMAN				VIPAS39,synonymous_variant,p.=,ENST00000553888,NM_022067.3,NM_001193317.1,NM_001193314.1;VIPAS39,synonymous_variant,p.=,ENST00000343765,;VIPAS39,synonymous_variant,p.=,ENST00000327028,;VIPAS39,synonymous_variant,p.=,ENST00000557658,NM_001193315.1,NM_001193316.1;VIPAS39,synonymous_variant,p.=,ENST00000556412,;VIPAS39,synonymous_variant,p.=,ENST00000448935,;							LOW	1318/1482		SPE39_HUMAN			Transcript			.	ENSP00000339122	8.24E-06	CCDS9862.1			1	
CACNA1C	0	LGGM	GRCh37	12	2162757	2162757	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	21	22	.	.	ENST00000347598.4:c.29T>C	p.Ile10Thr	p.I10T	ENST00000347598	NM_199460.2	10	aTt/aCt	0	1	1	UPI0000E593E5	0	NA	ENST00000347598		ENSG00000151067	1390		43	0.69		HGNC	p.I10T		CACNA1C		SNV			1				ENST00000399629	protein_coding	getma.org/?cm=var&var=hg19,12,2162757,T,C&fts=all				I/T		C	neutral	29/6655		getma.org/?cm=msa&ty=f&p=CAC1C_HUMAN&rb=1&re=160&var=I10T	tolerated_low_confidence(0.24)	Q86XX0_HUMAN,O95234_HUMAN			YES	CACNA1C,missense_variant,p.Ile10Thr,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;CACNA1C,missense_variant,p.Ile10Thr,ENST00000406454,;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399634,NM_001167625.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399617,NM_001167624.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399603,NM_001167623.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000335762,;CACNA1C,missense_variant,p.Ile10Thr,ENST00000480911,;CACNA1C,missense_variant,p.Ile10Thr,ENST00000347598,NM_199460.2,NM_001129827.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000344100,;CACNA1C,missense_variant,p.Ile10Thr,ENST00000327702,NM_001129830.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399638,NM_001129831.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399606,NM_001129832.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399621,;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399637,NM_001129835.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000402845,NM_001129833.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399629,NM_001129836.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399595,NM_001129837.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399591,NM_001129838.1,NM_001129846.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399649,NM_001129839.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399601,NM_001129843.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399641,NM_001129840.1;CACNA1C,missense_variant,p.Ile10Thr,ENST00000399644,NM_001129841.1;CACNA1C,intron_variant,,ENST00000543114,;CACNA1C-IT2,downstream_gene_variant,,ENST00000541871,;							MODERATE	29/6561	I10T	CAC1C_HUMAN			Transcript		benign(0.182)	.	ENSP00000266376		CCDS44788.1			1	
SLC12A3	0	LGGM	GRCh37	16	56913124	56913124	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	6	22	.	.	ENST00000438926.2:c.1320C>T	p.Leu440=	p.L440=	ENST00000438926	NM_001126108.1	440	ctC/ctT	0	1		UPI00005782C2	0		ENST00000563236		ENSG00000070915	10912		28			HGNC	p.L440L		SLC12A3		SNV			1				ENST00000563236	protein_coding			Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF9,TIGRFAM_domain:TIGR00930		L		T		1345/4208								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,;							LOW	1320/3066		S12A3_HUMAN			Transcript			.	ENSP00000456149		CCDS58464.1			1	
WAC	0	LGGM	GRCh37	10	28900706	28900706	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	77	22	.	.	ENST00000354911.4:c.1292A>G	p.Gln431Arg	p.Q431R	ENST00000354911	NM_016628.4	431	cAg/cGg	0	1	1	UPI000013D398	0	NA	ENST00000354911		ENSG00000095787	17327		99	0.895		HGNC	p.Q431R		WAC		SNV							ENST00000354911	protein_coding	getma.org/?cm=var&var=hg19,10,28900706,A,G&fts=all		hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF5		Q/R		G	low	1453/3042		getma.org/?cm=msa&ty=f&p=WAC_HUMAN&rb=361&re=560&var=Q431R	deleterious(0)	J3QTA0_HUMAN,E9PMZ7_HUMAN,C9JVK6_HUMAN,C9JMU2_HUMAN,C9JD58_HUMAN			YES	WAC,missense_variant,p.Gln386Arg,ENST00000375664,;WAC,missense_variant,p.Gln431Arg,ENST00000354911,NM_016628.4;WAC,missense_variant,p.Gln328Arg,ENST00000347934,NM_100486.3;WAC,missense_variant,p.Gln279Arg,ENST00000375646,;WAC,downstream_gene_variant,,ENST00000428935,;WAC,3_prime_UTR_variant,,ENST00000439676,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,upstream_gene_variant,,ENST00000480474,;WAC,downstream_gene_variant,,ENST00000424454,;WAC,downstream_gene_variant,,ENST00000495268,;WAC,downstream_gene_variant,,ENST00000476046,;							MODERATE	1292/1944	Q431R	WAC_HUMAN			Transcript		benign(0.11)	.	ENSP00000346986		CCDS7159.1			1	
PTPRS	0	LGGM	GRCh37	19	5219962	5219962	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	27	22	.	.	ENST00000357368.4:c.3753G>A	p.Gln1251=	p.Q1251=	ENST00000357368	NM_002850.3	1251	caG/caA	0	1	1	UPI000059D63E	0		ENST00000357368		ENSG00000105426	9681		49			HGNC	p.Q820Q		PTPRS		SNV							ENST00000353284	protein_coding			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204		Q		T		3987/7347				K7ESP0_HUMAN,K7ERX4_HUMAN			YES	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,non_coding_transcript_exon_variant,,ENST00000589851,;							LOW	3753/5847		PTPRS_HUMAN			Transcript			.	ENSP00000349932		CCDS45930.1			1	
SEMA4C	0	LGGM	GRCh37	2	97530101	97530101	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	23	23	.	.	ENST00000305476.5:c.981G>A	p.Ser327=	p.S327=	ENST00000305476	NM_017789.4	327	tcG/tcA	0	1	1	UPI00001A7981	0		ENST00000305476		ENSG00000168758	10731		46			HGNC	p.S327S	COSM1307117	SEMA4C		SNV						1	ENST00000305476	protein_coding			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF16,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		S		T		1114/3545				Q8NBN9_HUMAN,Q6P5A5_HUMAN,Q53RE7_HUMAN,C9JV89_HUMAN,C9J4M7_HUMAN			YES	SEMA4C,synonymous_variant,p.=,ENST00000305476,NM_017789.4;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000482925,;SEMA4C,upstream_gene_variant,,ENST00000467747,;SEMA4C,upstream_gene_variant,,ENST00000474420,;					1		LOW	981/2502		SEM4C_HUMAN			Transcript			.	ENSP00000306844		CCDS2029.1			1	
PGLYRP4	0	LGGM	GRCh37	1	153317700	153317700	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	31	23	.	.	ENST00000359650.5:c.298C>T	p.Arg100Trp	p.R100W	ENST00000359650	NM_020393.2	100	Cgg/Tgg	0	1	1	UPI000013F78A	0	getma.org/pdb.php?prot=PGRP4_HUMAN&from=68&to=214&var=R100W	ENST00000359650		ENSG00000163218	30015	0.000173	54	3.415		HGNC	p.R100W	rs554667521	PGLYRP4		SNV							ENST00000359650	protein_coding	getma.org/?cm=var&var=hg19,1,153317700,G,A&fts=all	A:0	hmmpanther:PTHR11022,hmmpanther:PTHR11022:SF12,Gene3D:3.40.80.10,Pfam_domain:PF01510,SMART_domains:SM00644,SMART_domains:SM00701,Superfamily_domains:SSF55846		R/W		A	medium	363/1834	3.00E-05	getma.org/?cm=msa&ty=f&p=PGRP4_HUMAN&rb=68&re=214&var=R100W	tolerated(0.05)		A:0.0014	A:0	YES	PGLYRP4,missense_variant,p.Arg96Trp,ENST00000368739,;PGLYRP4,missense_variant,p.Arg100Trp,ENST00000359650,NM_020393.2;PGLYRP4,non_coding_transcript_exon_variant,,ENST00000490266,;		A:0.0002					MODERATE	298/1122	R100W	PGRP4_HUMAN		A:0	Transcript		benign(0.056)	.	ENSP00000352672	3.29E-05	CCDS30871.1		A:0	1	
GRIK2	0	LGGM	GRCh37	6	102124623	102124623	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	27	25	.	.	ENST00000421544.1:c.667G>T	p.Glu223Ter	p.E223*	ENST00000421544	NM_021956.4	223	Gag/Tag	0	1	1	UPI000012B617	0	NA	ENST00000421544		ENSG00000164418	4580		52	0		HGNC	p.E223X		GRIK2		SNV			1				ENST00000369138	protein_coding	getma.org/?cm=var&var=hg19,6,102124623,G,T&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF38,Superfamily_domains:SSF53822		E/*		T	NA	1157/4789		NA		Q9BZ15_HUMAN,Q6P3V6_HUMAN,H7C2P5_HUMAN,F8WEZ8_HUMAN,D7RWZ8_HUMAN			YES	GRIK2,stop_gained,p.Glu223Ter,ENST00000369138,NM_001166247.1;GRIK2,stop_gained,p.Glu223Ter,ENST00000413795,NM_175768.3;GRIK2,stop_gained,p.Glu223Ter,ENST00000421544,NM_021956.4;GRIK2,stop_gained,p.Glu174Ter,ENST00000369134,;GRIK2,stop_gained,p.Glu223Ter,ENST00000318991,;GRIK2,stop_gained,p.Glu223Ter,ENST00000369137,;GRIK2,stop_gained,p.Glu223Ter,ENST00000358361,;GRIK2,upstream_gene_variant,,ENST00000455610,;							HIGH	667/2727	E223*	GRIK2_HUMAN			Transcript			.	ENSP00000397026		CCDS5048.1			1	
KIF23	0	LGGM	GRCh37	15	69739238	69739238	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	34	25	.	.	ENST00000260363.4:c.2825G>A	p.Gly942Glu	p.G942E	ENST00000260363	NM_138555.3	942	gGa/gAa	0	1	1	UPI0000072141	0	NA	ENST00000260363		ENSG00000137807	6392		59	2.215		HGNC	p.G655E		KIF23		SNV			1				ENST00000537891	protein_coding	getma.org/?cm=var&var=hg19,15,69739238,G,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF88		G/E		A	medium	2942/3610		getma.org/?cm=msa&ty=f&p=KIF23_HUMAN&rb=801&re=959&var=G942E	deleterious(0)				YES	KIF23,missense_variant,p.Gly942Glu,ENST00000260363,NM_138555.3,NM_001281301.1;KIF23,missense_variant,p.Gly838Glu,ENST00000559279,NM_004856.6;KIF23,missense_variant,p.Gly934Glu,ENST00000395392,;KIF23,missense_variant,p.Gly838Glu,ENST00000352331,;KIF23,missense_variant,p.Gly655Glu,ENST00000558585,;KIF23,missense_variant,p.Gly655Glu,ENST00000537891,;KIF23,3_prime_UTR_variant,,ENST00000561089,;KIF23,non_coding_transcript_exon_variant,,ENST00000558303,;KIF23,non_coding_transcript_exon_variant,,ENST00000559944,;KIF23,non_coding_transcript_exon_variant,,ENST00000560125,;							MODERATE	2825/2883	G942E	KIF23_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000260363		CCDS32278.1			1	
USP15	0	LGGM	GRCh37	12	62785103	62785103	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	33	26	.	.	ENST00000280377.5:c.2127A>C	p.Lys709Asn	p.K709N	ENST00000280377	NM_001252078.1	709	aaA/aaC	0	1	1	UPI00001379F8	0	NA	ENST00000280377		ENSG00000135655	12613		59	1.18		HGNC	p.K680N		USP15		SNV							ENST00000353364	protein_coding	getma.org/?cm=var&var=hg19,12,62785103,A,C&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443		K/N		C	low	2185/4748		getma.org/?cm=msa&ty=f&p=UBP15_HUMAN&rb=286&re=930&var=K709N	deleterious(0.03)	F8VZG8_HUMAN,F8VVY7_HUMAN			YES	USP15,missense_variant,p.Lys709Asn,ENST00000280377,NM_001252078.1;USP15,missense_variant,p.Lys680Asn,ENST00000353364,NM_006313.2;USP15,missense_variant,p.Lys684Asn,ENST00000393654,;USP15,upstream_gene_variant,,ENST00000549415,;USP15,upstream_gene_variant,,ENST00000552346,;USP15,downstream_gene_variant,,ENST00000549268,;USP15,upstream_gene_variant,,ENST00000548620,;							MODERATE	2127/2946	K709N	UBP15_HUMAN			Transcript		benign(0.06)	.	ENSP00000280377		CCDS58251.1			1	
OR5H15	0	LGGM	GRCh37	3	97888108	97888108	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	15	26	.	.	ENST00000356526.2:c.565T>G	p.Cys189Gly	p.C189G	ENST00000356526	NM_001005515.1	189	Tgt/Ggt	0	1	1	UPI00001606CE	0	NA	ENST00000356526		ENSG00000233412	31287		41	4.355		HGNC	p.C189G		OR5H15		SNV							ENST00000356526	protein_coding	getma.org/?cm=var&var=hg19,3,97888108,T,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321		C/G		G	high	565/942		getma.org/?cm=msa&ty=f&p=O5H15_HUMAN&rb=139&re=283&var=C189G	deleterious(0)				YES	OR5H15,missense_variant,p.Cys189Gly,ENST00000356526,NM_001005515.1;							MODERATE	565/942	C189G	O5H15_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000373195		CCDS33799.1			1	
ADAM23	0	LGGM	GRCh37	2	207482302	207482302	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	25	27	.	.	ENST00000264377.3:c.2451-1G>T		p.X817_splice	ENST00000264377	NM_003812.3			0	1	1	UPI0000044543	0		ENST00000264377		ENSG00000114948	202		52			HGNC	-		ADAM23		SNV							ENST00000264377	protein_coding							T		-/6327				Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN			YES	ADAM23,splice_acceptor_variant,,ENST00000264377,NM_003812.3;ADAM23,splice_acceptor_variant,,ENST00000374416,;ADAM23,splice_acceptor_variant,,ENST00000374415,;ADAM23,splice_acceptor_variant,,ENST00000444281,;							HIGH	2451/2499		ADA23_HUMAN			Transcript			.	ENSP00000264377		CCDS2369.1			1	
USP15	0	LGGM	GRCh37	12	62785091	62785091	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	31	27	.	.	ENST00000280377.5:c.2115G>C	p.Thr705=	p.T705=	ENST00000280377	NM_001252078.1	705	acG/acC	0	1	1	UPI00001379F8	0		ENST00000280377		ENSG00000135655	12613		58			HGNC	p.T676T		USP15		SNV							ENST00000353364	protein_coding			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF387,hmmpanther:PTHR24006,Pfam_domain:PF00443		T		C		2173/4748				F8VZG8_HUMAN,F8VVY7_HUMAN			YES	USP15,synonymous_variant,p.=,ENST00000280377,NM_001252078.1;USP15,synonymous_variant,p.=,ENST00000353364,NM_006313.2;USP15,synonymous_variant,p.=,ENST00000393654,;USP15,upstream_gene_variant,,ENST00000549415,;USP15,upstream_gene_variant,,ENST00000552346,;USP15,downstream_gene_variant,,ENST00000549268,;USP15,upstream_gene_variant,,ENST00000548620,;							LOW	2115/2946		UBP15_HUMAN			Transcript			.	ENSP00000280377		CCDS58251.1			1	
PCDH7	0	LGGM	GRCh37	4	31144246	31144246	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	54	27	.	.	ENST00000543491.1:c.3543T>C	p.Asp1181=	p.D1181=	ENST00000543491		1181	gaT/gaC	0	1	1	UPI0001CB27C3	0		ENST00000543491		ENSG00000169851	8659		81			HGNC	p.D1181D		PCDH7		SNV							ENST00000543491	protein_coding			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14		D		C		3543/3768				F5GWJ1_HUMAN			YES	PCDH7,synonymous_variant,p.=,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,synonymous_variant,p.=,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509759,;							LOW	3543/3768					Transcript			.	ENSP00000441802		CCDS54753.1			1	
RBM27	0	LGGM	GRCh37	5	145616877	145616877	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	54	27	.	.	ENST00000265271.5:c.1161A>G	p.Gln387=	p.Q387=	ENST00000265271	NM_018989.1	387	caA/caG	0	1	1	UPI00001D7F03	0		ENST00000265271		ENSG00000091009	29243		81			HGNC	p.Q387Q	rs754307398	RBM27	0.000182	SNV				0.000103			ENST00000265271	protein_coding			hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF1		Q		G		1327/6451	3.02E-05						YES	RBM27,synonymous_variant,p.=,ENST00000265271,NM_018989.1;RBM27,synonymous_variant,p.=,ENST00000506502,;	0.000232						LOW	1161/3183		RBM27_HUMAN			Transcript			.	ENSP00000265271	7.47E-05	CCDS43378.1	0.00111		1	
ACSM1	0	LGGM	GRCh37	16	20651890	20651890	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	32	27	.	.	ENST00000307493.4:c.1009C>T	p.Leu337=	p.L337=	ENST00000307493	NM_052956.2	337	Ctg/Ttg	0	1	1	UPI00000558D0	0		ENST00000307493		ENSG00000166743	18049		59			HGNC	p.L337L	rs749354099	ACSM1		SNV							ENST00000307493	protein_coding			Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF150,Superfamily_domains:SSF56801		L		A		1077/2051	1.50E-05			E5RFK0_HUMAN			YES	ACSM1,synonymous_variant,p.=,ENST00000307493,NM_052956.2;ACSM1,synonymous_variant,p.=,ENST00000520010,;ACSM1,synonymous_variant,p.=,ENST00000524149,;ACSM1,5_prime_UTR_variant,,ENST00000219151,;ACSM3,intron_variant,,ENST00000568235,;ACSM1,non_coding_transcript_exon_variant,,ENST00000519031,;ACSM1,intron_variant,,ENST00000519745,;							LOW	1009/1734		ACSM1_HUMAN			Transcript			.	ENSP00000301956	8.24E-06	CCDS10587.1			1	
ZNF521	0	LGGM	GRCh37	18	22805402	22805402	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	60	28	.	.	ENST00000361524.3:c.2480A>T	p.His827Leu	p.H827L	ENST00000361524	NM_015461.2	827	cAc/cTc	0	1	1	UPI000006F982	0	getma.org/pdb.php?prot=ZN521_HUMAN&from=808&to=834&var=H827L	ENST00000361524		ENSG00000198795	24605		88	4.54		HGNC	p.H607L		ZNF521		SNV							ENST00000584787	protein_coding	getma.org/?cm=var&var=hg19,18,22805402,T,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13912,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157		H/L		A	high	2629/4871		getma.org/?cm=msa&ty=f&p=ZN521_HUMAN&rb=788&re=854&var=H827L	deleterious(0)	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN			YES	ZNF521,missense_variant,p.His827Leu,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.His607Leu,ENST00000584787,;ZNF521,missense_variant,p.His827Leu,ENST00000538137,;ZNF521,downstream_gene_variant,,ENST00000577801,;ZNF521,downstream_gene_variant,,ENST00000577720,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,downstream_gene_variant,,ENST00000581869,;ZNF521,missense_variant,p.His827Leu,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;							MODERATE	2480/3936	H827L	ZN521_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000354794		CCDS32806.1			1	
BAZ2A	0	LGGM	GRCh37	12	56995451	56995451	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	41	28	.	.	ENST00000551812.1:c.3956C>T	p.Pro1319Leu	p.P1319L	ENST00000551812	NM_013449.3	1319	cCt/cTt	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		69	0.69		HGNC	p.P1317L		BAZ2A		SNV							ENST00000549884	protein_coding	getma.org/?cm=var&var=hg19,12,56995451,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		P/L		A	neutral	4150/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=1311&re=1510&var=P1319L	tolerated(0.21)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Pro1287Leu,ENST00000179765,;BAZ2A,missense_variant,p.Pro1289Leu,ENST00000379441,;BAZ2A,missense_variant,p.Pro1319Leu,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Pro1317Leu,ENST00000549884,;BAZ2A,missense_variant,p.Pro255Leu,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000548578,;BAZ2A,downstream_gene_variant,,ENST00000551759,;							MODERATE	3956/5718	P1319L	BAZ2A_HUMAN			Transcript		benign(0.001)	.	ENSP00000446880		CCDS44924.1			1	
FIP1L1	0	LGGM	GRCh37	4	54324833	54324833	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	24	28	.	.	ENST00000337488.6:c.1513T>C	p.Tyr505His	p.Y505H	ENST00000337488	NM_030917.3	505	Tac/Cac	0	1	1	UPI0000035FBF	0	NA	ENST00000337488		ENSG00000145216	19124		52	0.64		HGNC	p.Y499H	rs750140498	FIP1L1	6.11E-05	SNV			1				ENST00000358575	protein_coding	getma.org/?cm=var&var=hg19,4,54324833,T,C&fts=all		hmmpanther:PTHR13484,Low_complexity_(Seg):seg		Y/H		C	neutral	1707/2198		getma.org/?cm=msa&ty=f&p=FIP1_HUMAN&rb=398&re=594&var=Y505H	deleterious(0.02)				YES	FIP1L1,missense_variant,p.Tyr505His,ENST00000337488,NM_030917.3;FIP1L1,missense_variant,p.Tyr499His,ENST00000358575,NM_001134937.1;FIP1L1,missense_variant,p.Tyr165His,ENST00000504094,;FIP1L1,missense_variant,p.Tyr431His,ENST00000306932,NM_001134938.1;FIP1L1,intron_variant,,ENST00000507166,;LNX1,downstream_gene_variant,,ENST00000306888,NM_032622.2;LNX1,downstream_gene_variant,,ENST00000263925,NM_001126328.2;FIP1L1,3_prime_UTR_variant,,ENST00000514543,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000505125,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000513008,;FIP1L1,non_coding_transcript_exon_variant,,ENST00000507206,;							MODERATE	1513/1785	Y505H	FIP1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000336752	8.24E-06	CCDS3491.1			1	
IARS2	0	LGGM	GRCh37	1	220320916	220320916	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	45	29	.	.	ENST00000302637.5:c.2978A>G	p.Tyr993Cys	p.Y993C	ENST00000302637	NM_018060.3	993	tAt/tGt	0	1		UPI00001D69E8	0	NA	ENST00000366922		ENSG00000067704	29685		74	2.625		HGNC	p.Y993C		IARS2		SNV							ENST00000302637	protein_coding	getma.org/?cm=var&var=hg19,1,220320916,A,G&fts=all		Superfamily_domains:SSF47323,Pfam_domain:PF06827,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF9,HAMAP:MF_02002		Y/C		G	medium	3093/3557		getma.org/?cm=msa&ty=f&p=SYIM_HUMAN&rb=964&re=1012&var=Y993C	deleterious(0.05)	F6SBX2_HUMAN				IARS2,missense_variant,p.Tyr921Cys,ENST00000366922,;IARS2,missense_variant,p.Tyr993Cys,ENST00000302637,NM_018060.3;RAB3GAP2,downstream_gene_variant,,ENST00000358951,NM_012414.3;RAB3GAP2,downstream_gene_variant,,ENST00000491005,;RAB3GAP2,downstream_gene_variant,,ENST00000474966,;RAB3GAP2,downstream_gene_variant,,ENST00000491305,;IARS2,downstream_gene_variant,,ENST00000467924,;RPS15AP12,upstream_gene_variant,,ENST00000419498,;							MODERATE	2762/2823	Y993C				Transcript		benign(0.169)	.	ENSP00000355889					1	
ZNF473	0	LGGM	GRCh37	19	50548326	50548326	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	38	29	.	.	ENST00000595661.1:c.626A>G	p.Tyr209Cys	p.Y209C	ENST00000595661		209	tAt/tGt	0	1		UPI000006ED91	0	getma.org/pdb.php?prot=ZN473_HUMAN&from=209&to=231&var=Y209C	ENST00000270617		ENSG00000142528	23239		67	2.405		HGNC	p.Y209C		ZNF473		SNV							ENST00000595661	protein_coding	getma.org/?cm=var&var=hg19,19,50548326,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF112,Gene3D:3.30.160.60,Pfam_domain:PF00096,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/C		G	medium	985/4688		getma.org/?cm=msa&ty=f&p=ZN473_HUMAN&rb=189&re=251&var=Y209C	tolerated(0.05)	M0R032_HUMAN,M0QZY7_HUMAN,F8WEC7_HUMAN				ZNF473,missense_variant,p.Tyr209Cys,ENST00000595661,;ZNF473,missense_variant,p.Tyr209Cys,ENST00000391821,NM_001006656.1;ZNF473,missense_variant,p.Tyr209Cys,ENST00000270617,NM_015428.1;ZNF473,missense_variant,p.Tyr197Cys,ENST00000445728,;ZNF473,intron_variant,,ENST00000601364,;ZNF473,downstream_gene_variant,,ENST00000598809,;ZNF473,downstream_gene_variant,,ENST00000599155,;CTD-2126E3.3,intron_variant,,ENST00000599914,;CTD-2126E3.3,intron_variant,,ENST00000599410,;ZNF473,downstream_gene_variant,,ENST00000598802,;ZNF473,downstream_gene_variant,,ENST00000594968,;							MODERATE	626/2616	Y209C	ZN473_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000270617		CCDS33077.1			1	
CENPF	0	LGGM	GRCh37	1	214802436	214802436	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	47	30	.	.	ENST00000366955.3:c.1116T>A	p.Ser372Arg	p.S372R	ENST00000366955	NM_016343.3	372	agT/agA	0	1	1	UPI00001AE985	0		ENST00000366955		ENSG00000117724	1857		77			HGNC	p.S372R		CENPF		SNV							ENST00000366955	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874		S/R		A		1284/10307							YES	CENPF,missense_variant,p.Ser372Arg,ENST00000366955,NM_016343.3;							MODERATE	1116/9345		CENPF_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000355922		CCDS31023.1			1	
CCP110	0	LGGM	GRCh37	16	19548367	19548367	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	28	30	.	.	ENST00000381396.5:c.1376A>G	p.Asn459Ser	p.N459S	ENST00000381396	NM_001199022.1	459	aAt/aGt	0	1	1	UPI0000D619A9	0	NA	ENST00000381396		ENSG00000103540	24342		58	1.04		HGNC	p.N459S		CCP110		SNV							ENST00000396212	protein_coding	getma.org/?cm=var&var=hg19,16,19548367,A,G&fts=all		hmmpanther:PTHR13594		N/S		G	low	1623/5446		getma.org/?cm=msa&ty=f&p=CP110_HUMAN&rb=1&re=779&var=N459S	tolerated(0.27)				YES	CCP110,missense_variant,p.Asn459Ser,ENST00000396212,NM_014711.4;CCP110,missense_variant,p.Asn459Ser,ENST00000381396,NM_001199022.1;CCP110,missense_variant,p.Asn459Ser,ENST00000396208,;CCP110,downstream_gene_variant,,ENST00000561888,;CCP110,intron_variant,,ENST00000562083,;							MODERATE	1376/3039	N459S	CP110_HUMAN			Transcript		benign(0.002)	.	ENSP00000370803		CCDS55992.1			1	
BCAN	0	LGGM	GRCh37	1	156622084	156622084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	19	31	.	.	ENST00000329117.5:c.1342G>A	p.Glu448Lys	p.E448K	ENST00000329117	NM_021948.4	448	Gag/Aag	0	1	1	UPI000006F0E9	0	NA	ENST00000329117		ENSG00000132692	23059		50	0.695		HGNC	p.E448K		BCAN		SNV							ENST00000361588	protein_coding	getma.org/?cm=var&var=hg19,1,156622084,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22804,Low_complexity_(Seg):seg		E/K		A	neutral	1678/3466		getma.org/?cm=msa&ty=f&p=PGCB_HUMAN&rb=354&re=553&var=E448K	tolerated(0.23)	Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN			YES	BCAN,missense_variant,p.Glu448Lys,ENST00000329117,NM_021948.4;BCAN,missense_variant,p.Glu448Lys,ENST00000361588,NM_198427.1;BCAN,downstream_gene_variant,,ENST00000424639,;BCAN,downstream_gene_variant,,ENST00000457777,;RP11-284F21.7,intron_variant,,ENST00000448869,;BCAN,3_prime_UTR_variant,,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000496038,;BCAN,downstream_gene_variant,,ENST00000491823,;							MODERATE	1342/2736	E448K	PGCB_HUMAN			Transcript		benign(0.345)	.	ENSP00000331210		CCDS1149.1			1	
TRIM22	0	LGGM	GRCh37	11	5730768	5730768	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	53	33	.	.	ENST00000379965.3:c.1387G>A	p.Gly463Arg	p.G463R	ENST00000379965	NM_001199573.1	463	Gga/Aga	0	1	1	UPI0000074222	0	getma.org/pdb.php?prot=TRI22_HUMAN&from=352&to=497&var=G463R	ENST00000379965		ENSG00000132274	16379		86	1.79		HGNC	p.G463R		TRIM22		SNV							ENST00000379965	protein_coding	getma.org/?cm=var&var=hg19,11,5730768,G,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF265,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		G/R		A	low	1664/2989		getma.org/?cm=msa&ty=f&p=TRI22_HUMAN&rb=352&re=497&var=G463R	deleterious(0.01)	C9JIU5_HUMAN,C9J060_HUMAN			YES	TRIM22,missense_variant,p.Gly463Arg,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,downstream_gene_variant,,ENST00000480395,;TRIM22,downstream_gene_variant,,ENST00000414897,;TRIM22,downstream_gene_variant,,ENST00000493494,;							MODERATE	1387/1497	G463R	TRI22_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369299		CCDS41612.1			1	
CLEC4E	0	LGGM	GRCh37	12	8691880	8691880	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	47	34	.	.	ENST00000299663.3:c.153C>A	p.Thr51=	p.T51=	ENST00000299663	NM_014358.2	51	acC/acA	0	1	1	UPI0000037798	0		ENST00000299663		ENSG00000166523	14555		81			HGNC	p.T51T		CLEC4E		SNV							ENST00000299663	protein_coding			hmmpanther:PTHR22802:SF217,hmmpanther:PTHR22802		T		T		319/2159							YES	CLEC4E,synonymous_variant,p.=,ENST00000299663,NM_014358.2;CLEC4E,synonymous_variant,p.=,ENST00000545274,;CLEC4E,synonymous_variant,p.=,ENST00000446457,;CLEC4E,upstream_gene_variant,,ENST00000537698,;CLEC4E,synonymous_variant,p.=,ENST00000450725,;CLEC4E,non_coding_transcript_exon_variant,,ENST00000446809,;							LOW	153/660		CLC4E_HUMAN			Transcript			.	ENSP00000299663		CCDS8594.1			1	
ZNF645	0	LGGM	GRCh37	X	22291831	22291831	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	8	34	.	.	ENST00000323684.1:c.723T>C	p.Asp241=	p.D241=	ENST00000323684	NM_152577.3	241	gaT/gaC	0	1	1	UPI0000073BD5	0		ENST00000323684		ENSG00000175809	26371		42			HGNC	p.D241D		ZNF645		SNV							ENST00000323684	protein_coding			hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1		D		C		767/1510							YES	ZNF645,synonymous_variant,p.=,ENST00000323684,NM_152577.3;RP11-40F8.2,intron_variant,,ENST00000608254,;							LOW	723/1278		ZN645_HUMAN			Transcript			.	ENSP00000323348		CCDS14205.1			1	
MAP3K4	0	LGGM	GRCh37	6	161469657	161469657	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	85	34	.	.	ENST00000392142.4:c.353A>G	p.Asn118Ser	p.N118S	ENST00000392142	NM_005922.2	118	aAt/aGt	0	1	1	UPI00004574E1	0	NA	ENST00000392142		ENSG00000085511	6856		119	-0.41		HGNC	p.N118S		MAP3K4		SNV							ENST00000490904	protein_coding	getma.org/?cm=var&var=hg19,6,161469657,A,G&fts=all		Gene3D:3.30.200.20,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53		N/S		G	neutral	501/5490		getma.org/?cm=msa&ty=f&p=M3K4_HUMAN&rb=48&re=1136&var=N118S	tolerated_low_confidence(1)	F5H534_HUMAN			YES	MAP3K4,missense_variant,p.Asn118Ser,ENST00000392142,NM_005922.2;MAP3K4,missense_variant,p.Asn118Ser,ENST00000366920,;MAP3K4,missense_variant,p.Asn118Ser,ENST00000366919,NM_006724.2;MAP3K4,missense_variant,p.Asn118Ser,ENST00000348824,;MAP3K4,non_coding_transcript_exon_variant,,ENST00000446500,;MAP3K4,missense_variant,p.Asn118Ser,ENST00000490904,;MAP3K4,missense_variant,p.Asn118Ser,ENST00000544041,;MAP3K4,intron_variant,,ENST00000542952,;							MODERATE	353/4827	N118S	M3K4_HUMAN			Transcript		benign(0.002)	.	ENSP00000375986		CCDS34565.1			1	
NLGN1	0	LGGM	GRCh37	3	173322693	173322693	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	56	35	.	.	ENST00000457714.1:c.305C>G	p.Ser102Cys	p.S102C	ENST00000457714	NM_014932.3	102	tCt/tGt	0	1	1	UPI0000072F54	0	getma.org/pdb.php?prot=NLGN1_HUMAN&from=29&to=623&var=S102C	ENST00000457714		ENSG00000169760	14291		91	2.54		HGNC	p.S102C		NLGN1		SNV							ENST00000361589	protein_coding	getma.org/?cm=var&var=hg19,3,173322693,C,G&fts=all		Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52		S/C		G	medium	734/8242		getma.org/?cm=msa&ty=f&p=NLGN1_HUMAN&rb=29&re=623&var=S102C	deleterious(0.05)				YES	NLGN1,missense_variant,p.Ser102Cys,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Ser102Cys,ENST00000361589,;NLGN1,missense_variant,p.Ser102Cys,ENST00000545397,;NLGN1,missense_variant,p.Ser102Cys,ENST00000401917,;NLGN1,missense_variant,p.Ser102Cys,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000423427,;NLGN1,downstream_gene_variant,,ENST00000413821,;							MODERATE	305/2472	S102C	NLGN1_HUMAN			Transcript		benign(0.085)	.	ENSP00000392500		CCDS3222.1			1	
PICALM	0	LGGM	GRCh37	11	85685808	85685808	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	25	35	.	.	ENST00000393346.3:c.1887A>G	p.Ile629Met	p.I629M	ENST00000393346		629	atA/atG	0	1	1	UPI00001AE879	0	NA	ENST00000393346		ENSG00000073921	15514		60	-0.715		HGNC	p.I622M	rs777833191	PICALM		SNV			1	9.61E-05			ENST00000526033	protein_coding	getma.org/?cm=var&var=hg19,11,85685808,T,C&fts=all		hmmpanther:PTHR22951:SF16,hmmpanther:PTHR22951		I/M		C	neutral	2036/2340		getma.org/?cm=msa&ty=f&p=PICAL_HUMAN&rb=486&re=652&var=I629M	tolerated(1)	E9PLJ8_HUMAN,E9PKP6_HUMAN,E9PI56_HUMAN			YES	PICALM,missense_variant,p.Ile622Met,ENST00000526033,NM_007166.3,NM_001206946.1;PICALM,missense_variant,p.Ile587Met,ENST00000532317,NM_001008660.2;PICALM,missense_variant,p.Ile629Met,ENST00000393346,;PICALM,missense_variant,p.Ile528Met,ENST00000528398,NM_001206947.1;PICALM,missense_variant,p.Ile609Met,ENST00000356360,;PICALM,missense_variant,p.Ile285Met,ENST00000529760,;PICALM,missense_variant,p.Ile166Met,ENST00000530692,;PICALM,missense_variant,p.Ile241Met,ENST00000526961,;PICALM,missense_variant,p.Ile111Met,ENST00000532603,;PICALM,intron_variant,,ENST00000529016,;PICALM,downstream_gene_variant,,ENST00000530542,;PICALM,non_coding_transcript_exon_variant,,ENST00000526548,;PICALM,downstream_gene_variant,,ENST00000526907,;							MODERATE	1887/1959	I629M	PICAL_HUMAN			Transcript		benign(0.004)	.	ENSP00000377015	8.24E-06	CCDS8272.1			1	
MUC19	0	LGGM	GRCh37	12	40814099	40814099	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	46	36	.	.	ENST00000454784.4:c.-223G>T		*75*	ENST00000454784				0	1	1	UPI0003B927DE	0	NA	ENST00000454784		ENSG00000205592	14362		82	2.015		HGNC	p.R153L		MUC19		SNV							ENST00000425730	protein_coding	getma.org/?cm=var&var=hg19,12,40814099,G,T&fts=all						T	medium	511/19628		getma.org/?cm=msa&ty=f&p=MUC19_HUMAN&rb=1&re=97&var=G20L		C9JCE7_HUMAN			YES	MUC19,missense_variant,p.Arg153Leu,ENST00000425730,;MUC19,5_prime_UTR_variant,,ENST00000454784,;RP11-115F18.1,non_coding_transcript_exon_variant,,ENST00000552757,;MUC19,non_coding_transcript_exon_variant,,ENST00000471230,;							MODIFIER	-/10893	G20L				Transcript			.	ENSP00000476404					1	
ZNF292	0	LGGM	GRCh37	6	87925674	87925674	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	124	36	.	.	ENST00000369577.3:c.222A>G	p.Leu74=	p.L74=	ENST00000369577	NM_015021.1	74	ttA/ttG	0	1	1	UPI000020D2CC	0		ENST00000369577		ENSG00000188994	18410		160			HGNC	p.I65V		ZNF292		SNV							ENST00000496806	protein_coding			hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14		L		G		265/10610				Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN			YES	ZNF292,missense_variant,p.Ile65Val,ENST00000496806,;ZNF292,synonymous_variant,p.=,ENST00000369577,NM_015021.1;ZNF292,synonymous_variant,p.=,ENST00000339907,;ZNF292,intron_variant,,ENST00000518845,;ZNF292,non_coding_transcript_exon_variant,,ENST00000369578,;ZNF292,non_coding_transcript_exon_variant,,ENST00000524067,;ZNF292,non_coding_transcript_exon_variant,,ENST00000485016,;							LOW	222/8172		ZN292_HUMAN			Transcript			.	ENSP00000358590		CCDS47457.1			1	
CSMD3	0	LGGM	GRCh37	8	113702213	113702213	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	63	36	.	.	ENST00000297405.5:c.2039T>A	p.Phe680Tyr	p.F680Y	ENST00000297405	NM_198123.1	680	tTt/tAt	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=664&to=717&var=F680Y	ENST00000297405		ENSG00000164796	19291		99	1.3		HGNC	p.F640Y		CSMD3		SNV							ENST00000343508	protein_coding	getma.org/?cm=var&var=hg19,8,113702213,A,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535		F/Y		T	low	2284/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=664&re=717&var=F680Y	tolerated(0.14)				YES	CSMD3,missense_variant,p.Phe680Tyr,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Phe640Tyr,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Phe680Tyr,ENST00000352409,;CSMD3,missense_variant,p.Phe576Tyr,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Phe20Tyr,ENST00000339701,;							MODERATE	2039/11124	F680Y	CSMD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297405		CCDS6315.1			1	
PPP2R5C	0	LGGM	GRCh37	14	102372849	102372849	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	49	37	.	.	ENST00000422945.2:c.1227A>T	p.Ser409=	p.S409=	ENST00000422945	NM_001161725.1	409	tcA/tcT	0	1		UPI000019C428	0		ENST00000334743		ENSG00000078304	9311		86			HGNC	p.S433S		PPP2R5C		SNV							ENST00000328724	protein_coding			hmmpanther:PTHR10257,Pfam_domain:PF01603,Gene3D:1.25.10.10,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371		S		T		1182/4328				Q96B13_HUMAN				PPP2R5C,synonymous_variant,p.=,ENST00000422945,NM_001161725.1;PPP2R5C,synonymous_variant,p.=,ENST00000334743,NM_002719.3;PPP2R5C,synonymous_variant,p.=,ENST00000328724,NM_001161726.1;PPP2R5C,synonymous_variant,p.=,ENST00000350249,NM_178586.2;PPP2R5C,synonymous_variant,p.=,ENST00000557268,;PPP2R5C,synonymous_variant,p.=,ENST00000445439,NM_178587.2;PPP2R5C,synonymous_variant,p.=,ENST00000557095,;PPP2R5C,synonymous_variant,p.=,ENST00000555237,;PPP2R5C,synonymous_variant,p.=,ENST00000561006,;PPP2R5C,intron_variant,,ENST00000557716,;PPP2R5C,intron_variant,,ENST00000556218,;PPP2R5C,upstream_gene_variant,,ENST00000557071,;PPP2R5C,downstream_gene_variant,,ENST00000557534,;							LOW	1134/1575		2A5G_HUMAN			Transcript			.	ENSP00000333905		CCDS9964.1			1	
SIGLEC8	0	LGGM	GRCh37	19	51961248	51961248	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	65	37	.	.	ENST00000321424.3:c.394A>T	p.Lys132Ter	p.K132*	ENST00000321424	NM_014442.2	132	Aaa/Taa	0	1	1	UPI000013598B	0	NA	ENST00000321424		ENSG00000105366	10877		102	0		HGNC	p.K132X		SIGLEC8		SNV							ENST00000340550	protein_coding	getma.org/?cm=var&var=hg19,19,51961248,T,A&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		K/*		A	NA	461/2949		NA					YES	SIGLEC8,stop_gained,p.Lys132Ter,ENST00000321424,NM_014442.2;SIGLEC8,stop_gained,p.Lys132Ter,ENST00000430817,;SIGLEC8,stop_gained,p.Lys132Ter,ENST00000340550,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;							HIGH	394/1500	K132*	SIGL8_HUMAN			Transcript			.	ENSP00000321077		CCDS33086.1			1	
NCKAP1L	0	LGGM	GRCh37	12	54902227	54902227	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	52	37	.	.	ENST00000293373.6:c.418T>A	p.Ser140Thr	p.S140T	ENST00000293373	NM_005337.4	140	Tca/Aca	0	1	1	UPI00001C0439	0	getma.org/pdb.php?prot=NCKPL_HUMAN&from=6&to=1125&var=S140T	ENST00000293373		ENSG00000123338	4862		89	1.275		HGNC	p.S90T		NCKAP1L		SNV							ENST00000545638	protein_coding	getma.org/?cm=var&var=hg19,12,54902227,T,A&fts=all		hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735		S/T		A	low	497/4720		getma.org/?cm=msa&ty=f&p=NCKPL_HUMAN&rb=6&re=1125&var=S140T	tolerated(0.41)	Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN			YES	NCKAP1L,missense_variant,p.Ser140Thr,ENST00000293373,NM_005337.4;NCKAP1L,missense_variant,p.Ser90Thr,ENST00000545638,NM_001184976.1;NCKAP1L,upstream_gene_variant,,ENST00000552211,;NCKAP1L,missense_variant,p.Ser140Thr,ENST00000548221,;NCKAP1L,upstream_gene_variant,,ENST00000548916,;							MODERATE	418/3384	S140T	NCKPL_HUMAN			Transcript		benign(0.431)	.	ENSP00000293373		CCDS31813.1			1	
PLEKHF2	0	LGGM	GRCh37	8	96166607	96166607	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	59	38	.	.	ENST00000315367.3:c.335A>G	p.Tyr112Cys	p.Y112C	ENST00000315367	NM_024613.3	112	tAt/tGt	0	1	1	UPI0000035DB0	0	NA	ENST00000315367		ENSG00000175895	20757		97	2.095		HGNC	p.Y112C		PLEKHF2		SNV							ENST00000519516	protein_coding	getma.org/?cm=var&var=hg19,8,96166607,A,G&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22835:SF136,hmmpanther:PTHR22835,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		Y/C		G	medium	576/2881		getma.org/?cm=msa&ty=f&p=PKHF2_HUMAN&rb=36&re=131&var=Y112C	tolerated(0.1)				YES	PLEKHF2,missense_variant,p.Tyr112Cys,ENST00000315367,NM_024613.3;PLEKHF2,missense_variant,p.Tyr112Cys,ENST00000519516,;							MODERATE	335/750	Y112C	PKHF2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000322373		CCDS6267.1			1	
ABHD12B	0	LGGM	GRCh37	14	51344720	51344720	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	58	40	.	.	ENST00000337334.2:c.155A>G	p.Tyr52Cys	p.Y52C	ENST00000337334	NM_001206673.1	52	tAt/tGt	0	1	1	UPI00001ADDF5	0	NA	ENST00000337334		ENSG00000131969	19837		98	0.715		HGNC	p.Y52C	rs375485745	ABHD12B		SNV							ENST00000337334	protein_coding	getma.org/?cm=var&var=hg19,14,51344720,A,G&fts=all	G:0.0015	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF32,Superfamily_domains:SSF53474		Y/C		G	neutral	170/1708		getma.org/?cm=msa&ty=f&p=AB12B_HUMAN&rb=1&re=140&var=Y52C	tolerated(0.22)		G:0	G:0	YES	ABHD12B,missense_variant,p.Tyr52Cys,ENST00000337334,NM_001206673.1;PYGL,intron_variant,,ENST00000532462,;ABHD12B,intron_variant,,ENST00000395752,;ABHD12B,intron_variant,,ENST00000353130,NM_181814.1;ABHD12B,intron_variant,,ENST00000554241,;ABHD12B,intron_variant,,ENST00000382029,;ABHD12B,intron_variant,,ENST00000557345,;		G:0.0004					MODERATE	155/1089	Y52C	AB12B_HUMAN		G:0	Transcript		benign(0.013)	.	ENSP00000336693		CCDS55916.1		G:0	1	
CHD4	0	LGGM	GRCh37	12	6707433	6707433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	57	40	.	.	ENST00000357008.2:c.1641G>T	p.Trp547Cys	p.W547C	ENST00000357008	NM_001273.2	547	tgG/tgT	0	1	1	UPI000013C8EF	0	NA	ENST00000357008		ENSG00000111642	1919		97	2.885		HGNC	p.W544C		CHD4		SNV							ENST00000544484	protein_coding	getma.org/?cm=var&var=hg19,12,6707433,C,A&fts=all		Gene3D:2.40.50.40,Pfam_domain:PF00385,PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,SMART_domains:SM00298,Superfamily_domains:SSF54160		W/C		A	medium	1805/6496		getma.org/?cm=msa&ty=f&p=CHD4_HUMAN&rb=531&re=577&var=W547C	deleterious(0)	F5H6N4_HUMAN			YES	CHD4,missense_variant,p.Trp547Cys,ENST00000309577,;CHD4,missense_variant,p.Trp544Cys,ENST00000544484,;CHD4,missense_variant,p.Trp540Cys,ENST00000544040,;CHD4,missense_variant,p.Trp547Cys,ENST00000357008,NM_001273.2;CHD4,downstream_gene_variant,,ENST00000545942,;CHD4,downstream_gene_variant,,ENST00000545584,;CHD4,downstream_gene_variant,,ENST00000535810,;CHD4,upstream_gene_variant,,ENST00000536999,;CHD4,downstream_gene_variant,,ENST00000430771,;							MODERATE	1641/5739	W547C	CHD4_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000349508		CCDS8552.1			1	
DLGAP3	0	LGGM	GRCh37	1	35332663	35332663	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	73	41	.	.	ENST00000373347.1:c.2707C>T	p.Leu903Phe	p.L903F	ENST00000373347		903	Ctc/Ttc	0	1		UPI00003D4D81	0	NA	ENST00000235180		ENSG00000116544	30368		114	2.165		HGNC	p.L903F	rs756259593	DLGAP3		SNV							ENST00000235180	protein_coding	getma.org/?cm=var&var=hg19,1,35332663,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4,Pfam_domain:PF03359		L/F		A	medium	2707/3587		getma.org/?cm=msa&ty=f&p=DLGP3_HUMAN&rb=621&re=979&var=L903F	tolerated(0.56)	B4DH33_HUMAN				DLGAP3,missense_variant,p.Leu903Phe,ENST00000373347,;DLGAP3,missense_variant,p.Leu903Phe,ENST00000235180,NM_001080418.1;	0.000231						MODERATE	2707/2940	L903F	DLGP3_HUMAN			Transcript		benign(0.425)	.	ENSP00000235180	1.65E-05	CCDS30670.1			1	
OR5D16	0	LGGM	GRCh37	11	55606409	55606409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	68	42	.	.	ENST00000378396.1:c.182T>C	p.Met61Thr	p.M61T	ENST00000378396	NM_001005496.1	61	aTg/aCg	0	1	1	UPI0000046198	0	NA	ENST00000378396		ENSG00000205029	15283		110	3.805		HGNC	p.M61T		OR5D16		SNV							ENST00000378396	protein_coding	getma.org/?cm=var&var=hg19,11,55606409,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321		M/T		C	high	182/987		getma.org/?cm=msa&ty=f&p=OR5DG_HUMAN&rb=1&re=140&var=M61T	deleterious(0.01)				YES	OR5D16,missense_variant,p.Met61Thr,ENST00000378396,NM_001005496.1;							MODERATE	182/987	M61T	OR5DG_HUMAN			Transcript		benign(0.259)	.	ENSP00000367649		CCDS31512.1			1	
DNAH5	0	LGGM	GRCh37	5	13829702	13829702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	88	42	.	.	ENST00000265104.4:c.6361A>G	p.Ser2121Gly	p.S2121G	ENST00000265104	NM_001369.2	2121	Agt/Ggt	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=1942&to=2173&var=S2121G	ENST00000265104		ENSG00000039139	2950		130	2.39		HGNC	p.S2121G		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13829702,T,C&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		S/G		C	medium	6466/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1942&re=2173&var=S2121G		O95496_HUMAN			YES	DNAH5,missense_variant,p.Ser2121Gly,ENST00000265104,NM_001369.2;							MODERATE	6361/13875	S2121G	DYH5_HUMAN			Transcript		benign(0.418)	.	ENSP00000265104		CCDS3882.1			1	
VPRBP	0	LGGM	GRCh37	3	51475560	51475560	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	156	42	.	.	ENST00000504652.1:c.867T>G	p.Ser289=	p.S289=	ENST00000504652		289	tcT/tcG	0	1	1	UPI000020AC4F	0		ENST00000504652		ENSG00000145041	30911		198			HGNC	p.S289S		VPRBP		SNV							ENST00000504652	protein_coding			hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4		S		C		997/1258				D6RAK9_HUMAN				VPRBP,synonymous_variant,p.=,ENST00000504652,;VPRBP,intron_variant,,ENST00000335891,;							LOW	867/1128					Transcript			.	ENSP00000421724					1	
PKD1L1	0	LGGM	GRCh37	7	47944868	47944868	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	68	42	.	.	ENST00000289672.2:c.1577T>G	p.Phe526Cys	p.F526C	ENST00000289672	NM_138295.3	526	tTt/tGt	0	1	1	UPI0000130FA9	0	NA	ENST00000289672		ENSG00000158683	18053		110	0.975		HGNC	p.F526C		PKD1L1		SNV							ENST00000289672	protein_coding	getma.org/?cm=var&var=hg19,7,47944868,A,C&fts=all		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,SMART_domains:SM00089		F/C		C	low	1628/9092		getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=508&re=590&var=F526C	deleterious(0)				YES	PKD1L1,missense_variant,p.Phe526Cys,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;							MODERATE	1577/8550	F526C	PK1L1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000289672		CCDS34633.1			1	
STX7	0	LGGM	GRCh37	6	132792694	132792694	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	72	42	.	.	ENST00000367941.2:c.295A>G	p.Thr99Ala	p.T99A	ENST00000367941	NM_003569.2	99	Aca/Gca	0	1	1	UPI0000136167	0	getma.org/pdb.php?prot=STX7_HUMAN&from=9&to=101&var=T99A	ENST00000367941		ENSG00000079950	11442		114	-0.14		HGNC	p.T99A		STX7		SNV							ENST00000367937	protein_coding	getma.org/?cm=var&var=hg19,6,132792694,T,C&fts=all		Gene3D:1.20.58.70,Pfam_domain:PF14523,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF90,SMART_domains:SM00503,Superfamily_domains:SSF47661		T/A		C	neutral	409/15791		getma.org/?cm=msa&ty=f&p=STX7_HUMAN&rb=9&re=101&var=T99A	tolerated(1)				YES	STX7,missense_variant,p.Thr99Ala,ENST00000367941,NM_003569.2;STX7,missense_variant,p.Thr99Ala,ENST00000367937,;STX7,non_coding_transcript_exon_variant,,ENST00000448348,;STX7,downstream_gene_variant,,ENST00000475879,;							MODERATE	295/786	T99A	STX7_HUMAN			Transcript		benign(0.003)	.	ENSP00000356918		CCDS5153.1			1	
MAP4K3	0	LGGM	GRCh37	2	39499633	39499633	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	26	44	.	.	ENST00000263881.3:c.1845A>C	p.Leu615=	p.L615=	ENST00000263881	NM_003618.3	615	ctA/ctC	0	1	1	UPI00000747E6	0		ENST00000263881		ENSG00000011566	6865		70			HGNC	p.L531L		MAP4K3		SNV							ENST00000437545	protein_coding			PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,Pfam_domain:PF00780,SMART_domains:SM00036,PIRSF_domain:PIRSF038172		L		G		2170/4362				Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN			YES	MAP4K3,synonymous_variant,p.=,ENST00000263881,NM_003618.3;MAP4K3,synonymous_variant,p.=,ENST00000341681,NM_001270425.1;MAP4K3,synonymous_variant,p.=,ENST00000437545,;MAP4K3,synonymous_variant,p.=,ENST00000536018,;MAP4K3,non_coding_transcript_exon_variant,,ENST00000495648,;							LOW	1845/2685		M4K3_HUMAN			Transcript			.	ENSP00000263881		CCDS1803.1			1	
MTUS2	0	LGGM	GRCh37	13	29600745	29600745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	76	44	.	.	ENST00000431530.3:c.1940C>A	p.Pro647His	p.P647H	ENST00000431530	NM_001033602.2	647	cCc/cAc	0	1	1	UPI0000F734AC	0	NA	ENST00000431530		ENSG00000132938	20595		120	2.095		HGNC	p.P647H		MTUS2		SNV							ENST00000431530	protein_coding	getma.org/?cm=var&var=hg19,13,29600745,C,A&fts=all		hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		P/H		A	medium	1998/4747		getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=P637H	deleterious(0)	J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,missense_variant,p.Pro647His,ENST00000431530,NM_001033602.2;							MODERATE	1940/4140	P637H				Transcript		probably_damaging(1)	.	ENSP00000392057		CCDS45022.1			1	
DHX8	0	LGGM	GRCh37	17	41585303	41585303	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	55	45	.	.	ENST00000262415.3:c.2236A>G	p.Ile746Val	p.I746V	ENST00000262415	NM_004941.1	746	Ata/Gta	0	1	1	UPI00001290D9	0	getma.org/pdb.php?prot=DHX8_HUMAN&from=727&to=803&var=I746V	ENST00000262415		ENSG00000067596	2749		100	0.4		HGNC	p.I746V		DHX8		SNV							ENST00000540306	protein_coding	getma.org/?cm=var&var=hg19,17,41585303,A,G&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF85,SMART_domains:SM00487,Superfamily_domains:SSF52540		I/V		G	neutral	2308/5558		getma.org/?cm=msa&ty=f&p=DHX8_HUMAN&rb=727&re=803&var=I746V	tolerated(0.46)				YES	DHX8,missense_variant,p.Ile746Val,ENST00000262415,NM_004941.1;DHX8,missense_variant,p.Ile746Val,ENST00000540306,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;							MODERATE	2236/3663	I746V	DHX8_HUMAN			Transcript		benign(0.02)	.	ENSP00000262415		CCDS11464.1			1	
LONP2	0	LGGM	GRCh37	16	48292571	48292571	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	13	45	.	.	ENST00000285737.4:c.643A>G	p.Ile215Val	p.I215V	ENST00000285737	NM_031490.2	215	Ata/Gta	0	1	1	UPI000000DCD1	0	NA	ENST00000285737		ENSG00000102910	20598		58	0.66		HGNC	p.I215V		LONP2		SNV							ENST00000566755	protein_coding	getma.org/?cm=var&var=hg19,16,48292571,A,G&fts=all		HAMAP:MF_03121,Pfam_domain:PF02190,PIRSF_domain:PIRSF001174,hmmpanther:PTHR10046,hmmpanther:PTHR10046:SF24,SMART_domains:SM00464,Superfamily_domains:SSF88697,TIGRFAM_domain:TIGR00763		I/V		G	neutral	736/8199		getma.org/?cm=msa&ty=f&p=LONP2_HUMAN&rb=12&re=220&var=I215V	tolerated(0.18)	Q9BU35_HUMAN			YES	LONP2,missense_variant,p.Ile215Val,ENST00000285737,NM_031490.2;LONP2,missense_variant,p.Ile171Val,ENST00000535754,;LONP2,missense_variant,p.Ile215Val,ENST00000566755,;LONP2,missense_variant,p.Ile171Val,ENST00000416006,;LONP2,upstream_gene_variant,,ENST00000570174,;							MODERATE	643/2559	I215V	LONP2_HUMAN			Transcript		benign(0.398)	.	ENSP00000285737		CCDS10734.1			1	
DOCK4	0	LGGM	GRCh37	7	111634249	111634249	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	94	46	.	.	ENST00000437633.1:c.256A>G	p.Ile86Val	p.I86V	ENST00000437633	NM_014705.3	86	Atc/Gtc	0	1	1	UPI0000D5BB0D	0	getma.org/pdb.php?prot=DOCK4_HUMAN&from=65&to=264&var=I86V	ENST00000437633		ENSG00000128512	19192		140	-0.395		HGNC	p.I86V		DOCK4		SNV							ENST00000428084	protein_coding	getma.org/?cm=var&var=hg19,7,111634249,T,C&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75		I/V		C	neutral	513/6212		getma.org/?cm=msa&ty=f&p=DOCK4_HUMAN&rb=65&re=264&var=I86V	tolerated(0.92)	Q75MU6_HUMAN			YES	DOCK4,missense_variant,p.Ile86Val,ENST00000428084,;DOCK4,missense_variant,p.Ile86Val,ENST00000437633,NM_014705.3;DOCK4,missense_variant,p.Ile74Val,ENST00000445943,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;DOCK4,non_coding_transcript_exon_variant,,ENST00000468571,;							MODERATE	256/5901	I86V	DOCK4_HUMAN			Transcript		benign(0.003)	.	ENSP00000404179		CCDS47688.1			1	
SETX	0	LGGM	GRCh37	9	135218084	135218084	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	117	46	.	.	ENST00000224140.5:c.491A>G	p.Asn164Ser	p.N164S	ENST00000224140	NM_015046.5	164	aAt/aGt	0	1	1	UPI0000210D28	0	NA	ENST00000224140		ENSG00000107290	445		163	0.46		HGNC	p.N164S	rs372219695	SETX		SNV	C:0.0002		1	9.65E-05			ENST00000393220	protein_coding	getma.org/?cm=var&var=hg19,9,135218084,T,C&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336		N/S	C:0	C	neutral	674/11100		getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=1&re=621&var=N164S	deleterious(0.02)				YES	SETX,missense_variant,p.Asn164Ser,ENST00000372169,;SETX,missense_variant,p.Asn164Ser,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Asn164Ser,ENST00000393220,;							MODERATE	491/8034	N164S	SETX_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000224140	8.24E-06	CCDS6947.1			1	
WDR17	0	LGGM	GRCh37	4	177052771	177052771	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	45	47	.	.	ENST00000280190.4:c.1052C>A	p.Thr351Asn	p.T351N	ENST00000280190		351	aCt/aAt	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		92	0.345		HGNC	p.T334N		WDR17		SNV							ENST00000507824	protein_coding	getma.org/?cm=var&var=hg19,4,177052771,C,A&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344		T/N		A	neutral	1208/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=313&re=387&var=T351N	tolerated(0.21)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Thr327Asn,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Thr351Asn,ENST00000280190,;WDR17,missense_variant,p.Thr327Asn,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Thr334Asn,ENST00000507824,;WDR17,missense_variant,p.Thr100Asn,ENST00000505894,;							MODERATE	1052/3969	T351N	WDR17_HUMAN			Transcript		benign(0.001)	.	ENSP00000280190		CCDS3825.1			1	
NEK10	0	LGGM	GRCh37	3	27387600	27387600	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	126	50	.	.	ENST00000341435.5:c.240A>T	p.Glu80Asp	p.E80D	ENST00000341435	NM_199347.2	80	gaA/gaT	0	1		UPI0000EE2A86	0	NA	ENST00000429845		ENSG00000163491	18592		176	1.78		HGNC	p.E80D		NEK10		SNV							ENST00000429845	protein_coding	getma.org/?cm=var&var=hg19,3,27387600,T,A&fts=all		hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77		E/D		A	low	603/4250		getma.org/?cm=msa&ty=f&p=NEK10_HUMAN&rb=1&re=509&var=E80D	deleterious(0)	C9JJN0_HUMAN				NEK10,missense_variant,p.Glu80Asp,ENST00000429845,;NEK10,missense_variant,p.Glu80Asp,ENST00000341435,NM_199347.2;NEK10,missense_variant,p.Glu80Asp,ENST00000435750,;NEK10,non_coding_transcript_exon_variant,,ENST00000491627,;							MODERATE	240/3519	E80D	NEK10_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000395849					1	
PRB2	0	LGGM	GRCh37	12	11546696	11546696	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	178	50	.	.	ENST00000389362.4:c.316G>A	p.Asp106Asn	p.D106N	ENST00000389362	NM_006248.3	106	Gac/Aac	0	1	1	UPI0000EE5993	0	NA	ENST00000389362		ENSG00000121335	9338		228	-1.395		HGNC	p.D106N		PRB2		SNV							ENST00000389362	protein_coding	getma.org/?cm=var&var=hg19,12,11546696,C,T&fts=all		hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF2,Pfam_domain:PF15240		D/N		T	neutral	352/1427		getma.org/?cm=msa&ty=f&p=PRB2_HUMAN&rb=40&re=239&var=D106N	tolerated(0.41)				YES	PRB2,missense_variant,p.Asp106Asn,ENST00000389362,NM_006248.3;PRB1,intron_variant,,ENST00000546254,;PRB2,downstream_gene_variant,,ENST00000565533,;PRB2,downstream_gene_variant,,ENST00000545829,;							MODERATE	316/1251	D106N	PRB2_HUMAN			Transcript		unknown(0)	.	ENSP00000374013		CCDS41757.2			1	
GSAP	0	LGGM	GRCh37	7	77006175	77006175	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	29	52	.	.	ENST00000257626.7:c.731A>G	p.Tyr244Cys	p.Y244C	ENST00000257626	NM_017439.3	244	tAt/tGt	0	1	1	UPI000015FEE3	0	NA	ENST00000257626		ENSG00000186088	28042		81	0		HGNC	p.Y244C	rs748708894	GSAP		SNV							ENST00000257626	protein_coding	getma.org/?cm=var&var=hg19,7,77006175,T,C&fts=all		hmmpanther:PTHR13630,hmmpanther:PTHR13630:SF1		Y/C		C	neutral	810/3251	3.00E-05	getma.org/?cm=msa&ty=f&p=GSAP_HUMAN&rb=1&re=852&var=Y244C	tolerated(0.17)	B7ZL33_HUMAN			YES	GSAP,missense_variant,p.Tyr244Cys,ENST00000257626,NM_017439.3;GSAP,non_coding_transcript_exon_variant,,ENST00000334003,;							MODERATE	731/2565	Y244C	GSAP_HUMAN	0.00302		Transcript		benign(0.006)	common_variant	ENSP00000257626	0.000181	CCDS34672.2			1	
BTNL8	0	LGGM	GRCh37	5	180335870	180335870	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	169	53	.	.	ENST00000340184.4:c.334T>C	p.Tyr112His	p.Y112H	ENST00000340184	NM_001040462.2	112	Tat/Cat	0	1	1	UPI00000389ED	0	getma.org/pdb.php?prot=BTNL8_HUMAN&from=18&to=132&var=Y112H	ENST00000340184		ENSG00000113303	26131		222	3.215		HGNC	p.Y112H		BTNL8		SNV							ENST00000508408	protein_coding	getma.org/?cm=var&var=hg19,5,180335870,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,SMART_domains:SM00409,Superfamily_domains:SSF48726		Y/H		C	medium	540/2071		getma.org/?cm=msa&ty=f&p=BTNL8_HUMAN&rb=18&re=132&var=Y112H	deleterious(0.02)	D6RIR7_HUMAN			YES	BTNL8,missense_variant,p.Tyr112His,ENST00000231229,NM_024850.2,NM_001159708.1;BTNL8,missense_variant,p.Tyr112His,ENST00000340184,NM_001040462.2;BTNL8,missense_variant,p.Tyr112His,ENST00000508408,;BTNL8,intron_variant,,ENST00000400707,NM_001159709.1;BTNL8,intron_variant,,ENST00000511704,NM_001159707.1;BTNL8,upstream_gene_variant,,ENST00000533815,NM_001159710.1;BTNL8,upstream_gene_variant,,ENST00000505126,;Y_RNA,upstream_gene_variant,,ENST00000410920,;BTNL8,upstream_gene_variant,,ENST00000514448,;BTNL8,upstream_gene_variant,,ENST00000513442,;BTNL8,upstream_gene_variant,,ENST00000503543,;							MODERATE	334/1503	Y112H	BTNL8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000342197		CCDS43413.1			1	
KPRP	0	LGGM	GRCh37	1	152733464	152733464	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	33	54	.	.	ENST00000368773.1:c.1400G>A	p.Cys467Tyr	p.C467Y	ENST00000368773	NM_001025231.1	467	tGt/tAt	0	1		UPI0000199942	0	NA	ENST00000606109		ENSG00000203786	31823		87	0.97		HGNC	p.C467Y		KPRP		SNV							ENST00000368773	protein_coding	getma.org/?cm=var&var=hg19,1,152733464,G,A&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98,Low_complexity_(Seg):seg		C/Y		A	low	1428/2492		getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=401&re=579&var=C467Y	tolerated_low_confidence(0.92)					KPRP,missense_variant,p.Cys467Tyr,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Cys467Tyr,ENST00000606109,;							MODERATE	1400/1740	C467Y	KPRP_HUMAN			Transcript		benign(0.017)	.	ENSP00000475216		CCDS30862.1			1	
SMC3	0	LGGM	GRCh37	10	112360845	112360845	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072012	H072012N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	108	55	.	.	ENST00000361804.4:c.2601A>G	p.Glu867=	p.E867=	ENST00000361804	NM_005445.3	867	gaA/gaG	0	1	1	UPI0000135A8D	0		ENST00000361804		ENSG00000108055	2468		163			HGNC	p.E867E	rs774525618	SMC3		SNV			1				ENST00000361804	protein_coding			Pfam_domain:PF02463,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164		E		G		2727/4114	1.50E-05						YES	SMC3,synonymous_variant,p.=,ENST00000361804,NM_005445.3;							LOW	2601/3654		SMC3_HUMAN			Transcript			.	ENSP00000354720	8.24E-06	CCDS31285.1			1	
FSD2	0	LGGM	GRCh37	15	83455878	83455878	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072012	H072012N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	56	60	.	.	ENST00000334574.8:c.265G>A	p.Glu89Lys	p.E89K	ENST00000334574		89	Gag/Aag	0	1	1	UPI0000161097	0	NA	ENST00000334574		ENSG00000186628	18024		116	1.67		HGNC	p.E89K		FSD2		SNV							ENST00000561368	protein_coding	getma.org/?cm=var&var=hg19,15,83455878,C,T&fts=all		hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099		E/K		T	low	447/6418		getma.org/?cm=msa&ty=f&p=FSD2_HUMAN&rb=1&re=200&var=E89K	deleterious(0.03)	H0YLA8_HUMAN			YES	FSD2,missense_variant,p.Glu89Lys,ENST00000334574,;FSD2,missense_variant,p.Glu89Lys,ENST00000541889,NM_001007122.2,NM_001281805.1,NM_001281806.1;FSD2,missense_variant,p.Glu89Lys,ENST00000561368,;							MODERATE	265/2250	E89K	FSD2_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000335651		CCDS45332.1			1	
HNRNPH1	0	LGGM	GRCh37	5	179045277	179045277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	105	60	.	.	ENST00000356731.5:c.584A>G	p.Tyr195Cys	p.Y195C	ENST00000356731		195	tAt/tGt	0	1	1	UPI0000000C2B	0	NA	ENST00000356731		ENSG00000169045	5041		165	1.995		HGNC	p.Y195C		HNRNPH1		SNV			1				ENST00000356731	protein_coding	getma.org/?cm=var&var=hg19,5,179045277,T,C&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF33,Superfamily_domains:SSF54928		Y/C		C	medium	2120/3667		getma.org/?cm=msa&ty=f&p=HNRH1_HUMAN&rb=183&re=254&var=Y195C	tolerated(0.1)	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN			YES	HNRNPH1,missense_variant,p.Tyr195Cys,ENST00000356731,;HNRNPH1,missense_variant,p.Tyr195Cys,ENST00000393432,NM_001257293.1;HNRNPH1,missense_variant,p.Tyr195Cys,ENST00000442819,NM_005520.2;HNRNPH1,missense_variant,p.Tyr195Cys,ENST00000329433,;HNRNPH1,missense_variant,p.Tyr195Cys,ENST00000510411,;HNRNPH1,missense_variant,p.Tyr147Cys,ENST00000523137,;HNRNPH1,missense_variant,p.Tyr195Cys,ENST00000505811,;HNRNPH1,missense_variant,p.Tyr70Cys,ENST00000521173,;HNRNPH1,missense_variant,p.Met149Val,ENST00000510431,;HNRNPH1,missense_variant,p.Met149Val,ENST00000508103,;HNRNPH1,missense_variant,p.Met149Val,ENST00000506721,;HNRNPH1,missense_variant,p.Tyr9Cys,ENST00000523921,;HNRNPH1,missense_variant,p.Tyr143Cys,ENST00000519056,;HNRNPH1,intron_variant,,ENST00000503105,;HNRNPH1,upstream_gene_variant,,ENST00000511300,;HNRNPH1,downstream_gene_variant,,ENST00000515158,;HNRNPH1,upstream_gene_variant,,ENST00000519033,;HNRNPH1,downstream_gene_variant,,ENST00000521116,;HNRNPH1,downstream_gene_variant,,ENST00000513225,;HNRNPH1,upstream_gene_variant,,ENST00000523449,;HNRNPH1,downstream_gene_variant,,ENST00000515714,;HNRNPH1,downstream_gene_variant,,ENST00000504348,;HNRNPH1,downstream_gene_variant,,ENST00000503664,;HNRNPH1,downstream_gene_variant,,ENST00000521790,;HNRNPH1,downstream_gene_variant,,ENST00000522256,;HNRNPH1,upstream_gene_variant,,ENST00000523136,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000518548,;HNRNPH1,downstream_gene_variant,,ENST00000524180,;HNRNPH1,downstream_gene_variant,,ENST00000519455,;HNRNPH1,missense_variant,p.Met149Val,ENST00000510678,;HNRNPH1,missense_variant,p.Met96Val,ENST00000519958,;HNRNPH1,3_prime_UTR_variant,,ENST00000504779,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000515481,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502904,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000502632,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514731,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000504549,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000520415,;HNRNPH1,downstream_gene_variant,,ENST00000513972,;HNRNPH1,downstream_gene_variant,,ENST00000519943,;HNRNPH1,upstream_gene_variant,,ENST00000524179,;HNRNPH1,downstream_gene_variant,,ENST00000505087,;HNRNPH1,downstream_gene_variant,,ENST00000519707,;HNRNPH1,downstream_gene_variant,,ENST00000522958,;HNRNPH1,upstream_gene_variant,,ENST00000521720,;HNRNPH1,downstream_gene_variant,,ENST00000512273,;HNRNPH1,downstream_gene_variant,,ENST00000515446,;HNRNPH1,downstream_gene_variant,,ENST00000513230,;							MODERATE	584/1350	Y195C	HNRH1_HUMAN			Transcript		benign(0.013)	.	ENSP00000349168		CCDS4446.1			1	
CACNA1B	0	LGGM	GRCh37	9	140948391	140948391	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	42	62	.	.	ENST00000371372.1:c.3901G>T	p.Val1301Leu	p.V1301L	ENST00000371372	NM_001243812.1	1301	Gtg/Ttg	0	1	1	UPI0000127267	0	getma.org/pdb.php?prot=CAC1B_HUMAN&from=1185&to=1415&var=V1301L	ENST00000371372		ENSG00000148408	1389		104	1.455		HGNC	p.V1302L		CACNA1B		SNV							ENST00000371357	protein_coding	getma.org/?cm=var&var=hg19,9,140948391,G,T&fts=all		Superfamily_domains:SSF81324,Pfam_domain:PF00520,hmmpanther:PTHR10037:SF161,hmmpanther:PTHR10037,Transmembrane_helices:TMhelix		V/L		T	low	4046/9790		getma.org/?cm=msa&ty=f&p=CAC1B_HUMAN&rb=1185&re=1415&var=V1301L	tolerated(0.07)	Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN			YES	CACNA1B,missense_variant,p.Val497Leu,ENST00000277549,;CACNA1B,missense_variant,p.Val1301Leu,ENST00000371372,NM_001243812.1,NM_000718.3;CACNA1B,missense_variant,p.Val1301Leu,ENST00000371363,;CACNA1B,missense_variant,p.Val1302Leu,ENST00000371355,;CACNA1B,missense_variant,p.Val1302Leu,ENST00000371357,;CACNA1B,missense_variant,p.Val1301Leu,ENST00000277551,;CACNA1B,downstream_gene_variant,,ENST00000545473,;							MODERATE	3901/7020	V1301L	CAC1B_HUMAN			Transcript		possibly_damaging(0.592)	.	ENSP00000360423		CCDS59522.1			1	
BRWD3	0	LGGM	GRCh37	X	79938025	79938025	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	55	70	.	.	ENST00000373275.4:c.4336C>T	p.Pro1446Ser	p.P1446S	ENST00000373275	NM_153252.4	1446	Cca/Tca	0	1	1	UPI000045785B	0	NA	ENST00000373275		ENSG00000165288	17342		125	0.895		HGNC	p.P1446S		BRWD3		SNV			1				ENST00000373275	protein_coding	getma.org/?cm=var&var=hg19,X,79938025,G,A&fts=all		Gene3D:1.20.920.10,hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF25,Low_complexity_(Seg):seg		P/S		A	low	4553/11381		getma.org/?cm=msa&ty=f&p=BRWD3_HUMAN&rb=1419&re=1618&var=P1446S	tolerated(0.55)				YES	BRWD3,missense_variant,p.Pro1446Ser,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;							MODERATE	4336/5409	P1446S	BRWD3_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000362372		CCDS14447.1			1	
DYNC2H1	0	LGGM	GRCh37	11	102991212	102991212	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	116	70	.	.	ENST00000398093.3:c.1036T>C	p.Tyr346His	p.Y346H	ENST00000398093		346	Tat/Cat	0	1		UPI0000418CA2	0	NA	ENST00000375735		ENSG00000187240	2962		186	0.4		HGNC	p.Y346H		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,102991212,T,C&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		Y/H		C	neutral	1180/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=188&re=676&var=Y346H						DYNC2H1,missense_variant,p.Tyr346His,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Tyr346His,ENST00000398093,;DYNC2H1,missense_variant,p.Tyr346His,ENST00000334267,;							MODERATE	1036/12924	Y346H	DYHC2_HUMAN			Transcript		benign(0.001)	.	ENSP00000364887		CCDS53701.1			1	
CDADC1	0	LGGM	GRCh37	13	49823007	49823007	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072012	H072012N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	13	75	.	.	ENST00000251108.6:c.83G>T	p.Gly28Val	p.G28V	ENST00000251108	NM_001193478.1	28	gGt/gTt	0	1	1	UPI0000073EF4	0	NA	ENST00000251108		ENSG00000102543	20299		88	0.975		HGNC	p.G28V		CDADC1		SNV							ENST00000251108	protein_coding	getma.org/?cm=var&var=hg19,13,49823007,G,T&fts=all		hmmpanther:PTHR11086,hmmpanther:PTHR11086:SF14		G/V		T	low	196/3383		getma.org/?cm=msa&ty=f&p=CDAC1_HUMAN&rb=1&re=71&var=G28V	deleterious_low_confidence(0)	G8JLM2_HUMAN			YES	CDADC1,missense_variant,p.Gly28Val,ENST00000251108,NM_001193478.1,NM_030911.3;CDADC1,missense_variant,p.Gly28Val,ENST00000538056,;CDADC1,missense_variant,p.Gly25Val,ENST00000429346,;CDADC1,splice_region_variant,,ENST00000444959,;CDADC1,splice_region_variant,,ENST00000496952,;CDADC1,splice_region_variant,,ENST00000466868,;CDADC1,missense_variant,p.Gly28Val,ENST00000496061,;CDADC1,missense_variant,p.Gly28Val,ENST00000484126,;							MODERATE	83/1545	G28V	CDAC1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000251108		CCDS9415.1			1	
USP24	0	LGGM	GRCh37	1	55622622	55622622	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072012	H072012N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072012N.bam, H072012T.bam	Illumina HiSeq	86	83	.	.	ENST00000294383.6:c.1445A>T	p.Gln482Leu	p.Q482L	ENST00000294383	NM_015306.2	482	cAg/cTg	0	1	1	UPI000059CFDE	0	NA	ENST00000294383		ENSG00000162402	12623		169	2.015		HGNC	p.Q482L		USP24		SNV							ENST00000294383	protein_coding	getma.org/?cm=var&var=hg19,1,55622622,T,A&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		Q/L		A	medium	1445/10549		getma.org/?cm=msa&ty=f&p=UBP24_HUMAN&rb=121&re=1439&var=Q482L	deleterious(0)				YES	USP24,missense_variant,p.Gln482Leu,ENST00000294383,NM_015306.2;USP24,missense_variant,p.Gln370Leu,ENST00000407756,;							MODERATE	1445/7863	Q482L	UBP24_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000294383		CCDS44154.2			1	
NFIA	0	LGGM	GRCh37	1	61554354	61554354	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	25	2	.	.	ENST00000371189.4:c.694+2T>C		p.X232_splice	ENST00000371189	NM_001145512.1			0	1		UPI000003B474	0		ENST00000403491		ENSG00000162599	7784		27			HGNC	-		NFIA		SNV			1				ENST00000371191	protein_coding							C		-/9487				S4R3K4_HUMAN				NFIA,splice_donor_variant,,ENST00000403491,NM_001134673.3,NM_005595.4;NFIA,splice_donor_variant,,ENST00000371187,;NFIA,splice_donor_variant,,ENST00000407417,NM_001145511.1;NFIA,splice_donor_variant,,ENST00000371189,NM_001145512.1;NFIA,splice_donor_variant,,ENST00000371191,;NFIA,splice_donor_variant,,ENST00000371185,;NFIA,splice_donor_variant,,ENST00000485903,;NFIA,splice_donor_variant,,ENST00000371184,;NFIA,splice_donor_variant,,ENST00000476646,;NFIA,splice_donor_variant,,ENST00000496712,;NFIA,intron_variant,,ENST00000479364,;							HIGH	559/1530		NFIA_HUMAN			Transcript			.	ENSP00000384523		CCDS44156.1			1	
SPATA20	0	LGGM	GRCh37	17	48628279	48628279	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	9	2	.	.	ENST00000006658.6:c.1383+1G>C		p.X461_splice	ENST00000006658	NM_022827.3			0	1		UPI000013F302	0		ENST00000356488		ENSG00000006282	26125		11			HGNC	-		SPATA20		SNV							ENST00000504334	protein_coding							C		-/2634								SPATA20,splice_donor_variant,,ENST00000006658,NM_022827.3;SPATA20,splice_donor_variant,,ENST00000393244,NM_001258373.1;SPATA20,splice_donor_variant,,ENST00000356488,NM_001258372.1;SPATA20,splice_donor_variant,,ENST00000511937,;SPATA20,splice_donor_variant,,ENST00000504334,;SPATA20,splice_donor_variant,,ENST00000503063,;SPATA20,splice_donor_variant,,ENST00000503127,;SPATA20,splice_donor_variant,,ENST00000511347,;SPATA20,splice_donor_variant,,ENST00000504265,;SPATA20,splice_donor_variant,,ENST00000504271,;SPATA20,splice_donor_variant,,ENST00000513618,;SPATA20,splice_donor_variant,,ENST00000508528,;SPATA20,non_coding_transcript_exon_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000505559,;SPATA20,downstream_gene_variant,,ENST00000512181,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000502911,;SPATA20,downstream_gene_variant,,ENST00000505456,;SPATA20,downstream_gene_variant,,ENST00000512416,;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,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000510917,;							HIGH	1335/2361		SPT20_HUMAN			Transcript			.	ENSP00000348878		CCDS58563.1			1	
PARP15	0	LGGM	GRCh37	3	122350986	122350986	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	15	2	.	.	ENST00000464300.2:c.1492C>T	p.Gln498Ter	p.Q498*	ENST00000464300	NM_001113523.1	498	Cag/Tag	0	1	1	UPI000163A140	0	NA	ENST00000464300		ENSG00000173200	26876		17	0		HGNC	p.Q195X		PARP15		SNV							ENST00000493645	protein_coding	getma.org/?cm=var&var=hg19,3,122350986,C,T&fts=all		Superfamily_domains:SSF56399,Gene3D:3.90.228.10,Pfam_domain:PF00644,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF54,PROSITE_profiles:PS51059		Q/*		T	NA	1558/2156		NA		J3KR47_HUMAN			YES	PARP15,stop_gained,p.Gln303Ter,ENST00000483793,;PARP15,stop_gained,p.Gln498Ter,ENST00000464300,NM_001113523.1;PARP15,stop_gained,p.Gln264Ter,ENST00000310366,NM_152615.1;PARP15,stop_gained,p.Gln195Ter,ENST00000493645,;PARP15,non_coding_transcript_exon_variant,,ENST00000465304,;PARP15,non_coding_transcript_exon_variant,,ENST00000473627,;							HIGH	1492/2037	Q476*				Transcript			.	ENSP00000417214		CCDS46893.1			1	
IGFBP7	0	LGGM	GRCh37	4	57907089	57907089	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	5	2	.	.	ENST00000295666.4:c.486A>G	p.Ile162Met	p.I162M	ENST00000295666	NM_001553.2	162	atA/atG	0	1	1	UPI00000422D2	0	getma.org/pdb.php?prot=IBP7_HUMAN&from=160&to=265&var=I162M	ENST00000295666		ENSG00000163453	5476		7	2.86		HGNC	p.I162M		IGFBP7		SNV			1				ENST00000537922	protein_coding	getma.org/?cm=var&var=hg19,4,57907089,T,C&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF018239,Superfamily_domains:SSF48726		I/M		C	medium	520/1427		getma.org/?cm=msa&ty=f&p=IBP7_HUMAN&rb=160&re=265&var=I162M	deleterious(0)				YES	IGFBP7,missense_variant,p.Ile162Met,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Ile162Met,ENST00000537922,NM_001253835.1;IGFBP7,non_coding_transcript_exon_variant,,ENST00000512512,;IGFBP7,non_coding_transcript_exon_variant,,ENST00000514062,;							MODERATE	486/849	I162M	IBP7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295666		CCDS3512.1			1	
DYRK1A	0	LGGM	GRCh37	21	38865389	38865389	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	46	3	.	.	ENST00000398960.2:c.1022C>T	p.Ala341Val	p.A341V	ENST00000398960	NM_001396.3	341	gCc/gTc	0	1	1	UPI0000129A31	0	getma.org/pdb.php?prot=DYR1A_HUMAN&from=159&to=479&var=A341V	ENST00000398960		ENSG00000157540	3091		49	3.125		HGNC	p.A341V		DYRK1A		SNV			1				ENST00000338785	protein_coding	getma.org/?cm=var&var=hg19,21,38865389,C,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/V		T	medium	1097/2422		getma.org/?cm=msa&ty=f&p=DYR1A_HUMAN&rb=159&re=479&var=A341V	deleterious(0)	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN			YES	DYRK1A,missense_variant,p.Ala332Val,ENST00000339659,NM_130436.2;DYRK1A,missense_variant,p.Ala341Val,ENST00000338785,NM_101395.2;DYRK1A,missense_variant,p.Ala341Val,ENST00000451934,;DYRK1A,missense_variant,p.Ala341Val,ENST00000321219,;DYRK1A,missense_variant,p.Ala341Val,ENST00000398960,NM_001396.3,NM_130438.2;DYRK1A,missense_variant,p.Ala113Val,ENST00000455387,;DYRK1A,missense_variant,p.Ala341Val,ENST00000398956,;							MODERATE	1022/2292	A341V	DYR1A_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000381932		CCDS42925.1			1	
BCAS3	0	LGGM	GRCh37	17	59001768	59001768	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	32	3	.	.	ENST00000390652.5:c.994G>T	p.Val332Leu	p.V332L	ENST00000390652	NM_001099432.1	332	Gtg/Ttg	0	1	1	UPI00001AE949	0	NA	ENST00000390652		ENSG00000141376	14347		35	1.79		HGNC	p.V332L		BCAS3		SNV							ENST00000407086	protein_coding	getma.org/?cm=var&var=hg19,17,59001768,G,T&fts=all		hmmpanther:PTHR13268,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		V/L		T	low	1025/3531		getma.org/?cm=msa&ty=f&p=BCAS3_HUMAN&rb=201&re=341&var=V332L	tolerated(0.7)	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN			YES	BCAS3,missense_variant,p.Val332Leu,ENST00000589222,;BCAS3,missense_variant,p.Val332Leu,ENST00000588462,;BCAS3,missense_variant,p.Val332Leu,ENST00000390652,NM_001099432.1;BCAS3,missense_variant,p.Val332Leu,ENST00000408905,;BCAS3,missense_variant,p.Val332Leu,ENST00000407086,NM_017679.3;BCAS3,missense_variant,p.Val103Leu,ENST00000588874,;BCAS3,missense_variant,p.Val103Leu,ENST00000585744,;BCAS3,missense_variant,p.Val103Leu,ENST00000586484,;BCAS3,missense_variant,p.Val103Leu,ENST00000590128,;BCAS3,missense_variant,p.Val103Leu,ENST00000586705,;BCAS3,splice_region_variant,,ENST00000586041,;							MODERATE	994/2787	V332L	BCAS3_HUMAN			Transcript		benign(0.002)	.	ENSP00000375067		CCDS45749.1			1	
CDH23	0	LGGM	GRCh37	10	73464874	73464874	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	5	3	.	.	ENST00000224721.6:c.2955G>A	p.Thr985=	p.T985=	ENST00000224721	NM_022124.5	985	acG/acA	0	1	1	UPI0002B831D5	0		ENST00000224721	uncertain_significance	ENSG00000107736	13733	9.08E-05	8			HGNC	p.T983T	rs373631099	CDH23	0.00115	SNV	A:0		1			1	ENST00000299366	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		T	A:0.0002	A		2960/10085	0.000248							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;							LOW	2955/10080					Transcript			common_variant	ENSP00000224721	0.000307		0.00249		1	
GPS1	0	LGGM	GRCh37	17	80013919	80013919	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	10	3	.	.	ENST00000392358.2:c.997G>A	p.Ala333Thr	p.A333T	ENST00000392358	NM_212492.1	333	Gcc/Acc	0	1		UPI000013EB91	0	NA	ENST00000306823		ENSG00000169727	4549		13	3.485		HGNC	p.A333T		GPS1		SNV							ENST00000392358	protein_coding	getma.org/?cm=var&var=hg19,17,80013919,G,A&fts=all		hmmpanther:PTHR14145:SF2,hmmpanther:PTHR14145,Pfam_domain:PF10602		A/T		A	medium	912/1842		getma.org/?cm=msa&ty=f&p=CSN1_HUMAN&rb=127&re=309&var=A297T	deleterious(0)	J3QS84_HUMAN,J3QLT0_HUMAN				GPS1,missense_variant,p.Ala333Thr,ENST00000392358,NM_212492.1;GPS1,missense_variant,p.Ala277Thr,ENST00000320548,;GPS1,missense_variant,p.Ala293Thr,ENST00000578552,NM_004127.4;GPS1,missense_variant,p.Ala297Thr,ENST00000306823,;GPS1,missense_variant,p.Ala333Thr,ENST00000355130,;DUS1L,downstream_gene_variant,,ENST00000354321,;DUS1L,downstream_gene_variant,,ENST00000306796,NM_022156.4;RFNG,upstream_gene_variant,,ENST00000310496,NM_002917.1;DUS1L,downstream_gene_variant,,ENST00000538833,;DUS1L,downstream_gene_variant,,ENST00000582529,;DUS1L,downstream_gene_variant,,ENST00000542088,;GPS1,downstream_gene_variant,,ENST00000585084,;RFNG,upstream_gene_variant,,ENST00000429557,;GPS1,downstream_gene_variant,,ENST00000583641,;RFNG,upstream_gene_variant,,ENST00000578356,;GPS1,downstream_gene_variant,,ENST00000583885,;GPS1,upstream_gene_variant,,ENST00000578168,;GPS1,downstream_gene_variant,,ENST00000583961,;GPS1,downstream_gene_variant,,ENST00000581418,;GPS1,downstream_gene_variant,,ENST00000583009,;GPS1,downstream_gene_variant,,ENST00000580716,;GPS1,downstream_gene_variant,,ENST00000582327,;DUS1L,downstream_gene_variant,,ENST00000577574,;GPS1,downstream_gene_variant,,ENST00000581578,;GPS1,downstream_gene_variant,,ENST00000583983,;GPS1,downstream_gene_variant,,ENST00000584229,;GPS1,3_prime_UTR_variant,,ENST00000584460,;GPS1,non_coding_transcript_exon_variant,,ENST00000392357,;GPS1,non_coding_transcript_exon_variant,,ENST00000578279,;DUS1L,downstream_gene_variant,,ENST00000578846,;RFNG,upstream_gene_variant,,ENST00000582478,;RFNG,upstream_gene_variant,,ENST00000580953,;RFNG,upstream_gene_variant,,ENST00000578676,;DUS1L,downstream_gene_variant,,ENST00000578264,;RFNG,upstream_gene_variant,,ENST00000584515,;GPS1,downstream_gene_variant,,ENST00000580141,;GPS1,upstream_gene_variant,,ENST00000583486,;DUS1L,downstream_gene_variant,,ENST00000580731,;DUS1L,downstream_gene_variant,,ENST00000582407,;DUS1L,downstream_gene_variant,,ENST00000578428,;DUS1L,downstream_gene_variant,,ENST00000584871,;DUS1L,downstream_gene_variant,,ENST00000579854,;GPS1,downstream_gene_variant,,ENST00000580723,;GPS1,downstream_gene_variant,,ENST00000578642,;GPS1,downstream_gene_variant,,ENST00000578392,;GPS1,downstream_gene_variant,,ENST00000580627,;RFNG,upstream_gene_variant,,ENST00000584463,;							MODERATE	889/1476	A297T	CSN1_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000302873		CCDS32774.1			1	
ZNF91	0	LGGM	GRCh37	19	23543484	23543484	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	31	3	.	.	ENST00000300619.7:c.2297G>T	p.Arg766Ile	p.R766I	ENST00000300619	NM_003430.2	766	aGa/aTa	0	1	1	UPI00002038F9	0	getma.org/pdb.php?prot=ZNF91_HUMAN&from=756&to=780&var=R766I	ENST00000300619		ENSG00000167232	13166		34	1.065		HGNC	p.R766I		ZNF91		SNV							ENST00000300619	protein_coding	getma.org/?cm=var&var=hg19,19,23543484,C,A&fts=all		Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157		R/I		A	low	2503/5489		getma.org/?cm=msa&ty=f&p=ZNF91_HUMAN&rb=736&re=800&var=R766I	deleterious(0)	M0R186_HUMAN			YES	ZNF91,missense_variant,p.Arg766Ile,ENST00000300619,NM_003430.2;ZNF91,missense_variant,p.Arg734Ile,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,;							MODERATE	2297/3576	R766I	ZNF91_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000300619		CCDS42541.1			1	
CATSPERD	0	LGGM	GRCh37	19	5778654	5778654	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	8	3	.	.	ENST00000381624.3:c.2364C>G	p.His788Gln	p.H788Q	ENST00000381624	NM_152784.3	788	caC/caG	0	1	1	UPI000059D641	0	NA	ENST00000381624		ENSG00000174898	28598		11	1.1		HGNC	p.H788Q		CATSPERD		SNV							ENST00000381624	protein_coding	getma.org/?cm=var&var=hg19,19,5778654,C,G&fts=all				H/Q		G	low	2425/2516		getma.org/?cm=msa&ty=f&p=CTSRD_HUMAN&rb=601&re=798&var=H788Q	tolerated_low_confidence(0.19)				YES	CATSPERD,missense_variant,p.His788Gln,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,;							MODERATE	2364/2397	H788Q	CTSRD_HUMAN			Transcript		benign(0.174)	.	ENSP00000371037		CCDS12149.2			1	
AXIN1	0	LGGM	GRCh37	16	396147	396147	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	2	4	.	.	ENST00000262320.3:c.878+1G>A		p.X293_splice	ENST00000262320	NM_003502.3			0	1	1	UPI000012669E	0		ENST00000262320		ENSG00000103126	903		6			HGNC	-		AXIN1		SNV			1				ENST00000262320	protein_coding							T		-/3643							YES	AXIN1,splice_donor_variant,,ENST00000262320,NM_003502.3;AXIN1,splice_donor_variant,,ENST00000354866,NM_181050.2;AXIN1,intron_variant,,ENST00000481769,;AXIN1,splice_donor_variant,,ENST00000461023,;							HIGH	878/2589		AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
PRSS16	0	LGGM	GRCh37	6	27215569	27215569	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	3	4	.	.	ENST00000230582.3:c.53G>T	p.Trp18Leu	p.W18L	ENST00000230582	NM_005865.3	18	tGg/tTg	0	1	1	UPI0000137773	0	NA	ENST00000230582		ENSG00000112812	9480		7	0.55		HGNC	p.W18L		PRSS16		SNV							ENST00000466364	protein_coding	getma.org/?cm=var&var=hg19,6,27215569,G,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22		W/L		T	neutral	68/2716		getma.org/?cm=msa&ty=f&p=TSSP_HUMAN&rb=1&re=63&var=W18L	tolerated_low_confidence(1)	Q7Z5N5_HUMAN			YES	PRSS16,missense_variant,p.Trp18Leu,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.Trp18Leu,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000475106,;PRSS16,upstream_gene_variant,,ENST00000485993,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,missense_variant,p.Trp18Leu,ENST00000454665,;PRSS16,missense_variant,p.Trp18Leu,ENST00000470870,;PRSS16,missense_variant,p.Trp18Leu,ENST00000468930,;PRSS16,missense_variant,p.Trp18Leu,ENST00000466364,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000462664,;							MODERATE	53/1545	W18L	TSSP_HUMAN			Transcript		benign(0.307)	.	ENSP00000230582		CCDS4623.1			1	
EVPL	0	LGGM	GRCh37	17	74023255	74023255	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	0	4	.	.	ENST00000301607.3:c.25T>C	p.Ser9Pro	p.S9P	ENST00000301607	NM_001988.2	9	Tcc/Ccc	0	1	1	UPI000013E730	0	NA	ENST00000301607		ENSG00000167880	3503		4	1.04		HGNC	p.S9P		EVPL		SNV							ENST00000586740	protein_coding	getma.org/?cm=var&var=hg19,17,74023255,A,G&fts=all		Low_complexity_(Seg):seg		S/P		G	low	279/6614		getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=1&re=200&var=S9P	deleterious_low_confidence(0.01)	K7EQ87_HUMAN			YES	EVPL,missense_variant,p.Ser9Pro,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Ser9Pro,ENST00000586740,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;							MODERATE	25/6102	S9P	EVPL_HUMAN			Transcript		unknown(0)	.	ENSP00000301607		CCDS11737.1			1	
FLRT2	0	LGGM	GRCh37	14	86089211	86089211	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	23	4	.	.	ENST00000330753.4:c.1353A>C	p.Lys451Asn	p.K451N	ENST00000330753	NM_013231.4	451	aaA/aaC	0	1	1	UPI0000049E10	0	NA	ENST00000330753		ENSG00000185070	3761		27	1.445		HGNC	p.K451N		FLRT2		SNV							ENST00000554746	protein_coding	getma.org/?cm=var&var=hg19,14,86089211,A,C&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23,PROSITE_profiles:PS50853		K/N		C	low	2120/7943		getma.org/?cm=msa&ty=f&p=FLRT2_HUMAN&rb=423&re=497&var=K451N	deleterious(0)	B4DM15_HUMAN			YES	FLRT2,missense_variant,p.Lys451Asn,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Lys451Asn,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;							MODERATE	1353/1983	K451N	FLRT2_HUMAN			Transcript		possibly_damaging(0.627)	.	ENSP00000332879		CCDS9877.1			1	
CYP46A1	0	LGGM	GRCh37	14	100188333	100188333	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	9	4	.	.	ENST00000261835.3:c.1106G>A	p.Gly369Asp	p.G369D	ENST00000261835	NM_006668.1	369	gGc/gAc	0	1	1	UPI00001281DC	0	getma.org/pdb.php?prot=CP46A_HUMAN&from=34&to=484&var=G369D	ENST00000261835		ENSG00000036530	2641		13	2.225		HGNC	p.G122D		CYP46A1		SNV							ENST00000556313	protein_coding	getma.org/?cm=var&var=hg19,14,100188333,G,A&fts=all		hmmpanther:PTHR24293,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		G/D		A	medium	1210/2181		getma.org/?cm=msa&ty=f&p=CP46A_HUMAN&rb=34&re=484&var=G369D	deleterious(0)	B4DHP8_HUMAN			YES	CYP46A1,missense_variant,p.Gly216Asp,ENST00000554176,;CYP46A1,missense_variant,p.Gly369Asp,ENST00000261835,NM_006668.1;CYP46A1,missense_variant,p.Gly272Asp,ENST00000423126,;CYP46A1,missense_variant,p.Gly356Asp,ENST00000380228,;CYP46A1,missense_variant,p.Gly122Asp,ENST00000556313,;CYP46A1,3_prime_UTR_variant,,ENST00000554917,;CYP46A1,non_coding_transcript_exon_variant,,ENST00000556822,;							MODERATE	1106/1503	G369D	CP46A_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000261835		CCDS9954.1			1	
CCDC66	0	LGGM	GRCh37	3	56650054	56650055	+	inframe_insertion	In_Frame_Ins	INS	-	-	CTC	novel	by Submitter	H072032	H072032N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	4	5	.	.	ENST00000394672.3:c.1818_1819insCCT	p.Ser606_Lys607insPro	p.S606_K607insP	ENST00000394672	NM_001141947.1	606	tct/tCTCct	0	1	1	UPI000020ADBC	0		ENST00000394672		ENSG00000180376	27709	0.235	9			HGNC	p.S606delinsSP	rs112267342,COSM1485402,COSM1485401	CCDC66	0.407	insertion				0.38		0,1,1	ENST00000394672	protein_coding			hmmpanther:PTHR22736,hmmpanther:PTHR22736:SF1		S/SP		CTC		1886-1887/3096	0.116			F8WCY0_HUMAN			YES	CCDC66,inframe_insertion,p.Ser606_Lys607insPro,ENST00000394672,NM_001141947.1,NM_001012506.4;CCDC66,inframe_insertion,p.Ser606_Lys607insPro,ENST00000436465,;CCDC66,inframe_insertion,p.Ser572_Lys573insPro,ENST00000326595,;CCDC66,inframe_insertion,p.Ser562_Lys563insPro,ENST00000422222,;FAM208A,downstream_gene_variant,,ENST00000431842,NM_015224.3;CCDC66,downstream_gene_variant,,ENST00000484623,;CCDC66,3_prime_UTR_variant,,ENST00000471681,;CCDC66,3_prime_UTR_variant,,ENST00000341455,;CCDC66,non_coding_transcript_exon_variant,,ENST00000480884,;FAM208A,downstream_gene_variant,,ENST00000459993,;CCDC66,upstream_gene_variant,,ENST00000476142,;CCDC66,downstream_gene_variant,,ENST00000468108,;	0.342				0,1,1		MODERATE	1816-1817/2847		CCD66_HUMAN	0.126		Transcript	2		common_variant	ENSP00000378167	0.207	CCDS46852.1	0.204		1	
COL7A1	0	LGGM	GRCh37	3	48631858	48631858	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	3	5	.	.	ENST00000328333.8:c.209G>A	p.Gly70Glu	p.G70E	ENST00000328333	NM_000094.3	70	gGa/gAa	0	1	1	UPI0000126D20	0	getma.org/pdb.php?prot=CO7A1_HUMAN&from=38&to=210&var=G70E	ENST00000328333		ENSG00000114270	2214		8	0.235		HGNC	p.G70E		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48631858,C,T&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,SMART_domains:SM00327,Superfamily_domains:SSF53300		G/E		T	neutral	317/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=38&re=210&var=G70E					YES	COL7A1,missense_variant,p.Gly70Glu,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Gly70Glu,ENST00000454817,;UQCRC1,downstream_gene_variant,,ENST00000203407,NM_003365.2;UQCRC1,downstream_gene_variant,,ENST00000415995,;UQCRC1,downstream_gene_variant,,ENST00000480561,;UQCRC1,downstream_gene_variant,,ENST00000471189,;							MODERATE	209/8835	G70E	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
MTMR14	0	LGGM	GRCh37	3	9719720	9719720	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	6	6	.	.	ENST00000296003.4:c.875A>G	p.Asn292Ser	p.N292S	ENST00000296003	NM_001077525.2	292	aAc/aGc	0	1	1	UPI000007423D	0	NA	ENST00000296003		ENSG00000163719	26190		12	0.945		HGNC	p.N292S		MTMR14		SNV			1				ENST00000353332	protein_coding	getma.org/?cm=var&var=hg19,3,9719720,A,G&fts=all		hmmpanther:PTHR13524,Gene3D:3.90.190.10,Superfamily_domains:SSF52799		N/S		G	low	997/2494		getma.org/?cm=msa&ty=f&p=MTMRE_HUMAN&rb=201&re=323&var=N292S	tolerated(0.19)				YES	MTMR14,missense_variant,p.Asn292Ser,ENST00000296003,NM_001077525.2;MTMR14,missense_variant,p.Asn292Ser,ENST00000353332,NM_001077526.2;MTMR14,missense_variant,p.Asn292Ser,ENST00000351233,NM_022485.4;MTMR14,missense_variant,p.Asn64Ser,ENST00000431250,;MTMR14,intron_variant,,ENST00000420925,;MTMR14,3_prime_UTR_variant,,ENST00000414996,;MTMR14,3_prime_UTR_variant,,ENST00000430020,;MTMR14,3_prime_UTR_variant,,ENST00000416864,;MTMR14,3_prime_UTR_variant,,ENST00000449543,;MTMR14,intron_variant,,ENST00000447144,;							MODERATE	875/1953	N292S	MTMRE_HUMAN			Transcript		benign(0.024)	.	ENSP00000296003		CCDS43043.1			1	
MECOM	0	LGGM	GRCh37	3	168813008	168813008	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	7	6	.	.	ENST00000264674.3:c.2506A>G	p.Ser836Gly	p.S836G	ENST00000264674	NM_001105077.3	836	Agc/Ggc	0	1		UPI000013D551	0	getma.org/pdb.php?prot=EVI1_HUMAN&from=761&to=784&var=S771G	ENST00000468789		ENSG00000085276	3498		13	1.23		HGNC	p.S771G		MECOM		SNV			1				ENST00000468789	protein_coding	getma.org/?cm=var&var=hg19,3,168813008,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24393,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		S/G		C	low	2699/3691		getma.org/?cm=msa&ty=f&p=EVI1_HUMAN&rb=741&re=804&var=S771G	deleterious(0.05)	Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,missense_variant,p.Ser762Gly,ENST00000464456,NM_001164000.1;MECOM,missense_variant,p.Ser836Gly,ENST00000264674,NM_001105077.3;MECOM,missense_variant,p.Ser771Gly,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,missense_variant,p.Ser950Gly,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Ser771Gly,ENST00000468789,NM_001105078.3;MECOM,missense_variant,p.Ser772Gly,ENST00000472280,;MECOM,missense_variant,p.Ser772Gly,ENST00000433243,;MECOM,missense_variant,p.Ser762Gly,ENST00000460814,;							MODERATE	2311/3156	S771G	EVI1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000419995		CCDS3205.1			1	
KMT2D	0	LGGM	GRCh37	12	49421027	49421027	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	13	6	.	.	ENST00000301067.7:c.14722G>A	p.Ala4908Thr	p.A4908T	ENST00000301067	NM_003482.3	4908	Gcc/Acc	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		19	0		HGNC	p.A4908T		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49421027,C,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Low_complexity_(Seg):seg		A/T		T	neutral	14722/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=4541&re=5019&var=A4908T		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Ala4908Thr,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000526209,;KMT2D,downstream_gene_variant,,ENST00000552391,;							MODERATE	14722/16614	A4908T	KMT2D_HUMAN			Transcript		unknown(0)	.	ENSP00000301067		CCDS44873.1			1	
PPIP5K2	0	LGGM	GRCh37	5	102494241	102494241	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	18	7	.	.	ENST00000321521.9:c.1701A>C	p.Glu567Asp	p.E567D	ENST00000321521		567	gaA/gaC	0	1		UPI0000070504	0	NA	ENST00000358359		ENSG00000145725	29035		25	3.465		HGNC	p.E567D		PPIP5K2		SNV							ENST00000358359	protein_coding	getma.org/?cm=var&var=hg19,5,102494241,A,C&fts=all		Superfamily_domains:SSF53254,Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750		E/D		C	medium	2210/5813		getma.org/?cm=msa&ty=f&p=VIP2_HUMAN&rb=379&re=894&var=E567D	deleterious(0)	K7EPT7_HUMAN,D6RFG4_HUMAN				PPIP5K2,missense_variant,p.Glu567Asp,ENST00000321521,;PPIP5K2,missense_variant,p.Glu567Asp,ENST00000358359,NM_001281471.1,NM_001276277.1;PPIP5K2,missense_variant,p.Glu567Asp,ENST00000414217,NM_015216.3;PPIP5K2,downstream_gene_variant,,ENST00000507921,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;							MODERATE	1701/3732	E567D	VIP2_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000351126		CCDS64212.1			1	
MRPL45	0	LGGM	GRCh37	17	36462519	36462519	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	16	7	.	.	ENST00000312513.5:c.382T>A	p.Tyr128Asn	p.Y128N	ENST00000312513	NM_001278279.1	128	Tat/Aat	0	1	1	UPI000013FDDF	0	NA	ENST00000312513		ENSG00000174100	16651		23	1.67		HGNC	p.Y128N		MRPL45		SNV							ENST00000312513	protein_coding	getma.org/?cm=var&var=hg19,17,36462519,T,A&fts=all		Pfam_domain:PF04280,SMART_domains:SM00978,Superfamily_domains:SSF54427		Y/N		A	low	543/1705		getma.org/?cm=msa&ty=f&p=RM45_HUMAN&rb=118&re=265&var=Y128N	deleterious(0.03)				YES	MRPL45,missense_variant,p.Tyr128Asn,ENST00000312513,NM_001278279.1,NM_032351.4;MRPL45,intron_variant,,ENST00000582535,;MRPL45,missense_variant,p.Tyr8Asn,ENST00000579911,;MRPL45,3_prime_UTR_variant,,ENST00000580762,;MRPL45,non_coding_transcript_exon_variant,,ENST00000581817,;							MODERATE	382/921	Y128N	RM45_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000308901		CCDS11326.1			1	
TCHH	0	LGGM	GRCh37	1	152083282	152083282	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	18	7	.	.	ENST00000368804.1:c.2411A>T	p.Gln804Leu	p.Q804L	ENST00000368804	NM_007113.3	804	cAg/cTg	0	1	1	UPI0000458A5E	0	NA	ENST00000368804		ENSG00000159450	11791		25	0		HGNC	p.Q804L		TCHH		SNV							ENST00000368804	protein_coding	getma.org/?cm=var&var=hg19,1,152083282,T,A&fts=all		Low_complexity_(Seg):seg		Q/L		A	neutral	2411/6900		getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=740&re=939&var=Q804L		Q5D861_HUMAN,A2RRS3_HUMAN			YES	TCHH,missense_variant,p.Gln804Leu,ENST00000368804,NM_007113.3;							MODERATE	2411/5832	Q804L	TRHY_HUMAN			Transcript		unknown(0)	.	ENSP00000357794		CCDS41396.1			1	
HMCN1	0	LGGM	GRCh37	1	185963970	185963970	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	34	7	.	.	ENST00000271588.4:c.3529C>T	p.Pro1177Ser	p.P1177S	ENST00000271588	NM_031935.2	1177	Cct/Tct	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=1171&to=1258&var=P1177S	ENST00000271588		ENSG00000143341	19194		41	2.05		HGNC	p.P1177S		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185963970,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		P/S		T	medium	3758/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=1171&re=1258&var=P1177S					YES	HMCN1,missense_variant,p.Pro1177Ser,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Pro1177Ser,ENST00000367492,;HMCN1,downstream_gene_variant,,ENST00000485744,;							MODERATE	3529/16908	P1177S	HMCN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000271588		CCDS30956.1			1	
MLTK	0	LGGM	GRCh37	2	174131223	174131223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	5	7	.	.	ENST00000375213.3:c.2148G>T	p.Arg716Ser	p.R716S	ENST00000375213	NM_016653.2	716	agG/agT	0	1	1	UPI0000073F69	0	NA	ENST00000375213		ENSG00000091436			12	0.46		Uniprot_gn	p.R716S		MLTK		SNV							ENST00000409176	protein_coding	getma.org/?cm=var&var=hg19,2,174131223,G,T&fts=all				R/S		T	neutral	2226/3741		getma.org/?cm=msa&ty=f&p=MLTK_HUMAN&rb=555&re=798&var=R716S	tolerated_low_confidence(0.07)	C9J3F7_HUMAN			YES	MLTK,missense_variant,p.Arg716Ser,ENST00000375213,NM_016653.2;MLTK,missense_variant,p.Arg716Ser,ENST00000409176,;MLK7-AS1,intron_variant,,ENST00000423106,;MLK7-AS1,intron_variant,,ENST00000422703,;							MODERATE	2148/2403	R716S	MLTK_HUMAN			Transcript		benign(0.002)	.	ENSP00000364361		CCDS42777.1			1	
FAM46C	0	LGGM	GRCh37	1	118166033	118166033	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	14	8	.	.	ENST00000369448.3:c.543G>A	p.Val181=	p.V181=	ENST00000369448	NM_017709.3	181	gtG/gtA	0	1	1	UPI0000070C6C	0		ENST00000369448		ENSG00000183508	24712		22			HGNC	p.V181V		FAM46C		SNV							ENST00000369448	protein_coding			Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF34		V		A		790/5751							YES	FAM46C,synonymous_variant,p.=,ENST00000369448,NM_017709.3;							LOW	543/1176		FA46C_HUMAN			Transcript			.	ENSP00000358458		CCDS896.1			1	
CNDP2	0	LGGM	GRCh37	18	72183596	72183596	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	12	8	.	.	ENST00000324262.4:c.1037C>G	p.Pro346Arg	p.P346R	ENST00000324262	NM_018235.2	346	cCg/cGg	0	1	1	UPI00000463FE	0	getma.org/pdb.php?prot=CNDP2_HUMAN&from=208&to=369&var=P346R	ENST00000324262		ENSG00000133313	24437		20	4.36		HGNC	p.P262R		CNDP2		SNV							ENST00000324301	protein_coding	getma.org/?cm=var&var=hg19,18,72183596,C,G&fts=all		hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Pfam_domain:PF07687,Gene3D:3.30.70.360,Pfam_domain:PF01546,PIRSF_domain:PIRSF037242		P/R		G	high	1353/2804		getma.org/?cm=msa&ty=f&p=CNDP2_HUMAN&rb=208&re=369&var=P346R	deleterious(0)	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN			YES	CNDP2,missense_variant,p.Pro346Arg,ENST00000324262,NM_018235.2;CNDP2,missense_variant,p.Pro346Arg,ENST00000579847,;CNDP2,missense_variant,p.Pro262Arg,ENST00000324301,NM_001168499.1;CNDP2,intron_variant,,ENST00000579624,;CNDP2,downstream_gene_variant,,ENST00000583785,;CNDP2,downstream_gene_variant,,ENST00000580672,;CNDP2,downstream_gene_variant,,ENST00000579583,;CNDP2,non_coding_transcript_exon_variant,,ENST00000583695,;CNDP2,downstream_gene_variant,,ENST00000582620,;CNDP2,downstream_gene_variant,,ENST00000577669,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584581,;CNDP2,non_coding_transcript_exon_variant,,ENST00000581600,;CNDP2,non_coding_transcript_exon_variant,,ENST00000577409,;CNDP2,downstream_gene_variant,,ENST00000583938,;							MODERATE	1037/1428	P346R	CNDP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325548		CCDS12006.1			1	
ZNF619	0	LGGM	GRCh37	3	40529508	40529508	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	6	8	.	.	ENST00000447116.2:c.1627C>T	p.Pro543Ser	p.P543S	ENST00000447116	NM_001145082.2	543	Cct/Tct	0	1		UPI000006CCD4	0	NA	ENST00000314686		ENSG00000177873	26910		14	0.805		HGNC	p.P543S	rs755236229	ZNF619	0.000121	SNV							ENST00000447116	protein_coding	getma.org/?cm=var&var=hg19,3,40529508,C,T&fts=all				P/S		T	low	1864/2233		getma.org/?cm=msa&ty=f&p=ZN619_HUMAN&rb=452&re=560&var=P487S	tolerated(0.09)					ZNF619,missense_variant,p.Pro543Ser,ENST00000447116,NM_001145082.2;ZNF619,missense_variant,p.Pro503Ser,ENST00000429348,NM_001145093.2;ZNF619,missense_variant,p.Pro487Ser,ENST00000314686,;ZNF619,missense_variant,p.Pro459Ser,ENST00000456778,NM_001145083.1;ZNF619,missense_variant,p.Pro494Ser,ENST00000522736,;ZNF619,missense_variant,p.Pro543Ser,ENST00000521353,;ZNF619,missense_variant,p.Pro503Ser,ENST00000432264,;ZNF619,non_coding_transcript_exon_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;							MODERATE	1459/1683	P487S	ZN619_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000322529	1.65E-05				1	
SGMS1	0	LGGM	GRCh37	10	52103413	52103413	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	16	8	.	.	ENST00000361781.2:c.462G>A	p.Ser154=	p.S154=	ENST00000361781	NM_147156.3	154	tcG/tcA	0	1	1	UPI000000D9FC	0		ENST00000361781		ENSG00000198964	29799		24			HGNC	p.S154S		SGMS1		SNV							ENST00000361781	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR21290,hmmpanther:PTHR21290:SF28		S		T		1422/3744				R4GNI5_HUMAN,D3DWC4_HUMAN,E6ZCI7_HUMAN			YES	SGMS1,synonymous_variant,p.=,ENST00000361781,NM_147156.3;SGMS1,synonymous_variant,p.=,ENST00000361543,;SGMS1,intron_variant,,ENST00000429490,;SGMS1,upstream_gene_variant,,ENST00000602565,;SGMS1,upstream_gene_variant,,ENST00000602619,;SGMS1,downstream_gene_variant,,ENST00000492601,;SGMS1,downstream_gene_variant,,ENST00000609445,;							LOW	462/1242					Transcript			.	ENSP00000354829		CCDS7240.1			1	
KBTBD7	0	LGGM	GRCh37	13	41767829	41767829	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	15	8	.	.	ENST00000379483.3:c.565C>T	p.Arg189Ter	p.R189*	ENST00000379483	NM_032138.4	189	Cga/Tga	0	1	1	UPI0000071F8F	0	NA	ENST00000379483		ENSG00000120696	25266		23	0		HGNC	p.R189X		KBTBD7		SNV							ENST00000379483	protein_coding	getma.org/?cm=var&var=hg19,13,41767829,G,A&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF132,SMART_domains:SM00875		R/*		A	NA	874/4734		NA		B4DS80_HUMAN			YES	KBTBD7,stop_gained,p.Arg189Ter,ENST00000379483,NM_032138.4;							HIGH	565/2055	R189*	KBTB7_HUMAN			Transcript			.	ENSP00000368797		CCDS9377.1			1	
PPP4R1L	0	LGGM	GRCh37	20	56813334	56813334	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	A	A	T	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	68	8	.	.	ENST00000493688.1:c.*847T>A		*283*	ENST00000493688				0	1	1	UPI0000072504	0		ENST00000493688		ENSG00000124224	15755		76			HGNC	p.Y232N		PPP4R1L		SNV							ENST00000497138	nonsense_mediated_decay							T		1966/2325				Q96LY6_HUMAN			YES	PPP4R1L,missense_variant,p.Tyr140Asn,ENST00000457990,;PPP4R1L,3_prime_UTR_variant,,ENST00000334187,;PPP4R1L,downstream_gene_variant,,ENST00000473210,;PPP4R1L,missense_variant,p.Tyr232Asn,ENST00000497138,;PPP4R1L,3_prime_UTR_variant,,ENST00000493688,;PPP4R1L,downstream_gene_variant,,ENST00000495058,;PPP4R1L,upstream_gene_variant,,ENST00000467784,;PPP4R1L,downstream_gene_variant,,ENST00000606437,;							MODIFIER	-/819					Transcript			.	ENSP00000435897					1	
RELN	0	LGGM	GRCh37	7	103137147	103137147	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	5	9	.	.	ENST00000428762.1:c.9019C>T	p.Leu3007Phe	p.L3007F	ENST00000428762	NM_005045.3	3007	Ctt/Ttt	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=2972&to=3171&var=L3007F	ENST00000428762		ENSG00000189056	9957		14	1.04		HGNC	p.L3007F	rs752135641	RELN	6.06E-05	SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103137147,G,A&fts=all		hmmpanther:PTHR11841,Superfamily_domains:SSF50939		L/F		A	low	9179/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=2972&re=3171&var=L3007F	tolerated(0.08)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Leu3007Phe,ENST00000424685,;RELN,missense_variant,p.Leu3007Phe,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Leu3007Phe,ENST00000343529,NM_173054.2;CTB-107G13.1,intron_variant,,ENST00000422488,;							MODERATE	9019/10383	L3007F	RELN_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000392423	8.24E-06	CCDS47680.1			1	
RC3H2	0	LGGM	GRCh37	9	125645648	125645648	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	19	9	.	.	ENST00000373670.1:c.594A>G	p.Glu198=	p.E198=	ENST00000373670		198	gaA/gaG	0	1		UPI0000048D91	0		ENST00000357244		ENSG00000056586	21461		28			HGNC	p.E198E		RC3H2		SNV							ENST00000423239	protein_coding			hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2,Low_complexity_(Seg):seg		E		C		835/3991								RC3H2,synonymous_variant,p.=,ENST00000373670,;RC3H2,synonymous_variant,p.=,ENST00000357244,NM_001100588.1;RC3H2,synonymous_variant,p.=,ENST00000423239,NM_018835.2;RC3H2,synonymous_variant,p.=,ENST00000335387,;RC3H2,synonymous_variant,p.=,ENST00000373665,;SNORD90,upstream_gene_variant,,ENST00000391145,NR_003071.1;RC3H2,synonymous_variant,p.=,ENST00000498479,;							LOW	594/3576		RC3H2_HUMAN			Transcript			.	ENSP00000349783		CCDS43874.1			1	
ZNF708	0	LGGM	GRCh37	19	21477466	21477466	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	19	10	.	.	ENST00000356929.3:c.302G>A	p.Arg101Lys	p.R101K	ENST00000356929	NM_021269.2	101	aGa/aAa	0	1	1	UPI000041F9DE	0	NA	ENST00000356929		ENSG00000182141	12945		29	1.93		HGNC	p.R101K		ZNF708		SNV							ENST00000356929	protein_coding	getma.org/?cm=var&var=hg19,19,21477466,C,T&fts=all		hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384		R/K		T	medium	500/4004		getma.org/?cm=msa&ty=f&p=ZN708_HUMAN&rb=45&re=155&var=R101K	tolerated(0.07)	M0R1G3_HUMAN,M0QYN4_HUMAN			YES	ZNF708,missense_variant,p.Arg101Lys,ENST00000356929,NM_021269.2;ZNF708,missense_variant,p.Arg25Lys,ENST00000602023,;ZNF708,missense_variant,p.Arg37Lys,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;							MODERATE	302/1692	R101K	ZN708_HUMAN			Transcript		benign(0.011)	.	ENSP00000349401		CCDS32980.1			1	
RBBP6	0	LGGM	GRCh37	16	24580119	24580119	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	15	10	.	.	ENST00000319715.4:c.2108C>G	p.Ser703Cys	p.S703C	ENST00000319715	NM_006910.4	703	tCt/tGt	0	1	1	UPI00001A96B8	0	NA	ENST00000319715		ENSG00000122257	9889		25	0.805		HGNC	p.S703C		RBBP6		SNV							ENST00000319715	protein_coding	getma.org/?cm=var&var=hg19,16,24580119,C,G&fts=all		hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1,Low_complexity_(Seg):seg		S/C		G	low	2540/6229		getma.org/?cm=msa&ty=f&p=RBBP6_HUMAN&rb=337&re=1269&var=S703C	deleterious_low_confidence(0)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN			YES	RBBP6,missense_variant,p.Ser703Cys,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Ser669Cys,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Ser570Cys,ENST00000564314,;RBBP6,intron_variant,,ENST00000381039,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;							MODERATE	2108/5379	S703C	RBBP6_HUMAN			Transcript		unknown(0)	.	ENSP00000317872		CCDS10621.1			1	
EMILIN2	0	LGGM	GRCh37	18	2890776	2890776	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	15	10	.	.	ENST00000254528.3:c.651G>A	p.Gln217=	p.Q217=	ENST00000254528	NM_032048.2	217	caG/caA	0	1	1	UPI000013CE3E	0		ENST00000254528		ENSG00000132205	19881		25			HGNC	p.Q217Q		EMILIN2		SNV							ENST00000254528	protein_coding			hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF5		Q		A		810/5910							YES	EMILIN2,synonymous_variant,p.=,ENST00000254528,NM_032048.2;							LOW	651/3162		EMIL2_HUMAN			Transcript			.	ENSP00000254528		CCDS11828.1			1	
RC3H2	0	LGGM	GRCh37	9	125645641	125645641	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	20	12	.	.	ENST00000373670.1:c.601T>G	p.Leu201Val	p.L201V	ENST00000373670		201	Ttg/Gtg	0	1		UPI0000048D91	0	NA	ENST00000357244		ENSG00000056586	21461		32	2.655		HGNC	p.L201V		RC3H2		SNV							ENST00000423239	protein_coding	getma.org/?cm=var&var=hg19,9,125645641,A,C&fts=all		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2,Low_complexity_(Seg):seg		L/V		C	medium	842/3991		getma.org/?cm=msa&ty=f&p=RC3H2_HUMAN&rb=201&re=400&var=L201V	deleterious(0.01)					RC3H2,missense_variant,p.Leu201Val,ENST00000373670,;RC3H2,missense_variant,p.Leu201Val,ENST00000357244,NM_001100588.1;RC3H2,missense_variant,p.Leu201Val,ENST00000423239,NM_018835.2;RC3H2,missense_variant,p.Leu201Val,ENST00000335387,;RC3H2,missense_variant,p.Leu201Val,ENST00000373665,;SNORD90,upstream_gene_variant,,ENST00000391145,NR_003071.1;RC3H2,missense_variant,p.Leu201Val,ENST00000498479,;							MODERATE	601/3576	L201V	RC3H2_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000349783		CCDS43874.1			1	
ANKRD34B	0	LGGM	GRCh37	5	79855725	79855725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	15	13	.	.	ENST00000338682.3:c.114G>T	p.Glu38Asp	p.E38D	ENST00000338682	NM_001004441.2	38	gaG/gaT	0	1	1	UPI00003672FA	0	getma.org/pdb.php?prot=AN34B_HUMAN&from=14&to=115&var=E38D	ENST00000338682		ENSG00000189127	33736		28	0.675		HGNC	p.E38D		ANKRD34B		SNV							ENST00000338682	protein_coding	getma.org/?cm=var&var=hg19,5,79855725,C,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24156:SF1,hmmpanther:PTHR24156,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		E/D		A	neutral	787/3938		getma.org/?cm=msa&ty=f&p=AN34B_HUMAN&rb=14&re=115&var=E38D	deleterious(0)				YES	ANKRD34B,missense_variant,p.Glu38Asp,ENST00000338682,NM_001004441.2;ANKRD34B,downstream_gene_variant,,ENST00000508916,;							MODERATE	114/1545	E38D	AN34B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339802		CCDS34194.1			1	
DNAH11	0	LGGM	GRCh37	7	21907522	21907522	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	13	13	.	.	ENST00000328843.6:c.11757C>T	p.Thr3919=	p.T3919=	ENST00000328843		3919	acC/acT	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		26			HGNC	p.T3919T		DNAH11		SNV			1				ENST00000328843	protein_coding			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		T		T		11767/14167				U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,synonymous_variant,p.=,ENST00000328843,;DNAH11,synonymous_variant,p.=,ENST00000409508,NM_001277115.1;							LOW	11736/13551					Transcript			.	ENSP00000475939		CCDS64602.1			1	
KIAA1429	0	LGGM	GRCh37	8	95522747	95522747	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	22	13	.	.	ENST00000297591.5:c.3524A>T	p.His1175Leu	p.H1175L	ENST00000297591	NM_015496.4	1175	cAt/cTt	0	1	1	UPI00001BBB23	0	NA	ENST00000297591		ENSG00000164944	24500		35	0.755		HGNC	p.H1175L		KIAA1429		SNV							ENST00000297591	protein_coding	getma.org/?cm=var&var=hg19,8,95522747,T,A&fts=all		hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185,Superfamily_domains:SSF48371		H/L		A	neutral	3600/6528		getma.org/?cm=msa&ty=f&p=VIR_HUMAN&rb=1090&re=1289&var=H1175L	tolerated(0.65)				YES	KIAA1429,missense_variant,p.His1175Leu,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.His1175Leu,ENST00000437199,;KIAA1429,downstream_gene_variant,,ENST00000421249,NM_183009.2;KIAA1429,intron_variant,,ENST00000523405,;KIAA1429,missense_variant,p.His528Leu,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;							MODERATE	3524/5439	H1175L	VIR_HUMAN			Transcript		benign(0.046)	.	ENSP00000297591		CCDS34923.1			1	
N4BP2L2	0	LGGM	GRCh37	13	33111099	33111099	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	11	14	.	.	ENST00000399396.3:c.22+44C>T		*8*	ENST00000399396	NM_033111.4			0	1		UPI000006DCC5	0		ENST00000267068		ENSG00000244754	26916		25			HGNC	p.R22R		N4BP2L2		SNV							ENST00000446957	protein_coding			hmmpanther:PTHR13308,hmmpanther:PTHR13308:SF19		R		A		231/2825								N4BP2L2,synonymous_variant,p.=,ENST00000267068,NM_014887.2;N4BP2L2,synonymous_variant,p.=,ENST00000505213,;N4BP2L2,synonymous_variant,p.=,ENST00000446957,;N4BP2L2,intron_variant,,ENST00000357505,NM_001278432.1;N4BP2L2,intron_variant,,ENST00000504114,;N4BP2L2,intron_variant,,ENST00000399396,NM_033111.4;N4BP2L2,non_coding_transcript_exon_variant,,ENST00000483088,;N4BP2L2,intron_variant,,ENST00000511143,;N4BP2L2,upstream_gene_variant,,ENST00000512755,;N4BP2L2,upstream_gene_variant,,ENST00000475731,;							LOW	66/1752		N42L2_HUMAN			Transcript			.	ENSP00000267068		CCDS9346.1			1	
BMP5	0	LGGM	GRCh37	6	55620403	55620403	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	28	14	.	.	ENST00000370830.3:c.1293C>A	p.Tyr431Ter	p.Y431*	ENST00000370830	NM_021073.2	431	taC/taA	0	1	1	UPI0000126A2C	0	NA	ENST00000370830		ENSG00000112175	1072		42	0		HGNC	p.Y431X	rs748613061	BMP5		SNV							ENST00000370830	protein_coding	getma.org/?cm=var&var=hg19,6,55620403,G,T&fts=all		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139,Pfam_domain:PF00019,Gene3D:2.10.90.10,SMART_domains:SM00204,Superfamily_domains:SSF57501		Y/*		T	NA	1992/3952	1.50E-05	NA		M9VUD0_HUMAN			YES	BMP5,stop_gained,p.Tyr431Ter,ENST00000370830,NM_021073.2;BMP5,stop_gained,p.Tyr394Ter,ENST00000446683,;							HIGH	1293/1365	Y431*	BMP5_HUMAN			Transcript			.	ENSP00000359866	8.24E-06	CCDS4958.1			1	
ANLN	0	LGGM	GRCh37	7	36489394	36489394	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	10	15	.	.	ENST00000265748.2:c.3199G>A	p.Asp1067Asn	p.D1067N	ENST00000265748	NM_018685.2	1067	Gat/Aat	0	1	1	UPI00001A95DE	0	getma.org/pdb.php?prot=ANLN_HUMAN&from=984&to=1107&var=D1067N	ENST00000265748		ENSG00000011426	14082		25	1.7		HGNC	p.D1030N		ANLN		SNV			1				ENST00000396068	protein_coding	getma.org/?cm=var&var=hg19,7,36489394,G,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF20,SMART_domains:SM00233,Superfamily_domains:SSF50729		D/N		A	low	3420/4787		getma.org/?cm=msa&ty=f&p=ANLN_HUMAN&rb=984&re=1107&var=D1067N	tolerated(0.06)	C9JJT6_HUMAN			YES	ANLN,missense_variant,p.Asp1067Asn,ENST00000265748,NM_018685.2;ANLN,missense_variant,p.Asp1030Asn,ENST00000396068,NM_001284302.1,NM_001284301.1;ANLN,missense_variant,p.Asp232Asn,ENST00000428612,;ANLN,downstream_gene_variant,,ENST00000457743,;ANLN,non_coding_transcript_exon_variant,,ENST00000491782,;							MODERATE	3199/3375	D1067N	ANLN_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000265748		CCDS5447.1			1	
CD47	0	LGGM	GRCh37	3	107776329	107776329	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072032	H072032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	20	15	.	.	ENST00000361309.5:c.872T>C	p.Phe291Ser	p.F291S	ENST00000361309	NM_001777.3	291	tTt/tCt	0	1	1	UPI0000049C6C	0	NA	ENST00000361309		ENSG00000196776	1682		35	1.39		HGNC	p.F291S		CD47		SNV							ENST00000361309	protein_coding	getma.org/?cm=var&var=hg19,3,107776329,A,G&fts=all		Pfam_domain:PF04549,hmmpanther:PTHR10613,hmmpanther:PTHR10613:SF0		F/S		G	low	978/1285		getma.org/?cm=msa&ty=f&p=CD47_HUMAN&rb=143&re=300&var=F291S	tolerated(0.07)				YES	CD47,missense_variant,p.Phe291Ser,ENST00000355354,NM_198793.2;CD47,missense_variant,p.Phe291Ser,ENST00000361309,NM_001777.3;CD47,missense_variant,p.Phe88Ser,ENST00000517766,;CD47,synonymous_variant,p.=,ENST00000398258,;CD47,upstream_gene_variant,,ENST00000471694,;							MODERATE	872/972	F291S	CD47_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000355361		CCDS43126.1			1	
ZNF782	0	LGGM	GRCh37	9	99580525	99580525	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	31	16	.	.	ENST00000481138.1:c.1780G>T	p.Glu594Ter	p.E594*	ENST00000481138	NM_001001662.1	594	Gag/Tag	0	1	1	UPI00001D76E3	0	NA	ENST00000481138		ENSG00000196597	33110		47	0		HGNC	p.E594X		ZNF782		SNV							ENST00000481138	protein_coding	getma.org/?cm=var&var=hg19,9,99580525,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF111,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/*		A	NA	2442/4213		NA		G3V1K9_HUMAN,C9J9Y8_HUMAN			YES	ZNF782,stop_gained,p.Glu594Ter,ENST00000481138,NM_001001662.1;ZNF782,stop_gained,p.Glu583Ter,ENST00000289032,;ZNF782,stop_gained,p.Glu462Ter,ENST00000535338,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,;							HIGH	1780/2100	E594*	ZN782_HUMAN			Transcript			.	ENSP00000419397		CCDS35075.1			1	
COL12A1	0	LGGM	GRCh37	6	75827194	75827194	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	24	17	.	.	ENST00000322507.8:c.7423C>G	p.Pro2475Ala	p.P2475A	ENST00000322507	NM_004370.5	2475	Cca/Gca	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=2323&to=2496&var=P2475A	ENST00000322507		ENSG00000111799	2188		41	3.26		HGNC	p.P2475A		COL12A1		SNV			1				ENST00000322507	protein_coding	getma.org/?cm=var&var=hg19,6,75827194,G,C&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300		P/A		C	medium	7733/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=2323&re=2496&var=P2475A					YES	COL12A1,missense_variant,p.Pro2475Ala,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Pro2475Ala,ENST00000483888,;COL12A1,missense_variant,p.Pro2475Ala,ENST00000416123,;COL12A1,missense_variant,p.Pro1311Ala,ENST00000345356,NM_080645.2;COL12A1,missense_variant,p.Pro113Ala,ENST00000425443,;COL12A1,missense_variant,p.Pro29Ala,ENST00000493109,;							MODERATE	7423/9192	P2475A	COCA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000325146		CCDS43482.1			1	
LDB3	0	LGGM	GRCh37	10	88439126	88439126	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	10	18	.	.	ENST00000429277.2:c.96C>T	p.Ile32=	p.I32=	ENST00000429277	NM_001171610.1	32	atC/atT	0	1		UPI000034ECFC	0		ENST00000361373		ENSG00000122367	15710		28			HGNC	p.I32I		LDB3		SNV			1				ENST00000429277	protein_coding			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF9,SMART_domains:SM00228,Superfamily_domains:SSF50156		I		T		117/5297								LDB3,splice_region_variant,p.=,ENST00000429277,NM_001171610.1;LDB3,splice_region_variant,p.=,ENST00000361373,NM_007078.2;LDB3,splice_region_variant,p.=,ENST00000458213,;LDB3,splice_region_variant,p.=,ENST00000263066,NM_001080114.1;LDB3,splice_region_variant,p.=,ENST00000352360,;LDB3,splice_region_variant,p.=,ENST00000372056,NM_001171611.1;LDB3,splice_region_variant,p.=,ENST00000542786,;LDB3,splice_region_variant,p.=,ENST00000310944,NM_001080115.1;LDB3,splice_region_variant,p.=,ENST00000372066,NM_001080116.1;							LOW	96/2184		LDB3_HUMAN			Transcript			.	ENSP00000355296		CCDS7377.1			1	
FRMPD4	0	LGGM	GRCh37	X	12735143	12735143	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	0	18	.	.	ENST00000380682.1:c.2565C>A	p.Thr855=	p.T855=	ENST00000380682	NM_014728.3	855	acC/acA	0	1	1	UPI00001C2066	0		ENST00000380682		ENSG00000169933	29007		18			HGNC	p.T855T		FRMPD4		SNV							ENST00000380682	protein_coding			hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3		T		A		3071/8465							YES	FRMPD4,synonymous_variant,p.=,ENST00000380682,NM_014728.3;							LOW	2565/3969		FRPD4_HUMAN			Transcript			.	ENSP00000370057		CCDS35201.1			1	
TUBB6	0	LGGM	GRCh37	18	12325366	12325366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	22	20	.	.	ENST00000317702.5:c.578T>C	p.Val193Ala	p.V193A	ENST00000317702		193	gTg/gCg	0	1	1	UPI0000072BFF	0	getma.org/pdb.php?prot=TBB6_HUMAN&from=3&to=224&var=V193A	ENST00000317702		ENSG00000176014	20776		42	2.495		HGNC	p.V193A		TUBB6		SNV							ENST00000317702	protein_coding	getma.org/?cm=var&var=hg19,18,12325366,T,C&fts=all		Prints_domain:PR01161,Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588:SF88,hmmpanther:PTHR11588		V/A		C	medium	812/2064		getma.org/?cm=msa&ty=f&p=TBB6_HUMAN&rb=3&re=224&var=V193A	deleterious_low_confidence(0.01)	K7ES63_HUMAN,K7EL29_HUMAN,B4E386_HUMAN,B3KS31_HUMAN			YES	TUBB6,missense_variant,p.Val193Ala,ENST00000317702,;TUBB6,missense_variant,p.Val156Ala,ENST00000590103,;TUBB6,3_prime_UTR_variant,,ENST00000591208,NM_032525.1;TUBB6,intron_variant,,ENST00000591909,;TUBB6,intron_variant,,ENST00000590967,;TUBB6,intron_variant,,ENST00000586691,;AFG3L2,downstream_gene_variant,,ENST00000269143,NM_006796.2;TUBB6,downstream_gene_variant,,ENST00000586653,;TUBB6,downstream_gene_variant,,ENST00000590693,;TUBB6,downstream_gene_variant,,ENST00000591463,;TUBB6,downstream_gene_variant,,ENST00000592683,;TUBB6,3_prime_UTR_variant,,ENST00000586810,;TUBB6,non_coding_transcript_exon_variant,,ENST00000417736,;TUBB6,downstream_gene_variant,,ENST00000590388,;							MODERATE	578/1341	V193A	TBB6_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000318697		CCDS11858.1			1	
TMC3	0	LGGM	GRCh37	15	81650517	81650517	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	41	21	.	.	ENST00000359440.5:c.716C>T	p.Ala239Val	p.A239V	ENST00000359440	NM_001080532.1	239	gCt/gTt	0	1	1	UPI00006C154A	0	NA	ENST00000359440		ENSG00000188869	22995		62	1.15		HGNC	p.A239V	rs758631166	TMC3		SNV							ENST00000359440	protein_coding	getma.org/?cm=var&var=hg19,15,81650517,G,A&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF35,Transmembrane_helices:TMhelix		A/V		A	low	852/4641	1.53E-05	getma.org/?cm=msa&ty=f&p=TMC3_HUMAN&rb=201&re=400&var=A239V	tolerated(0.06)				YES	TMC3,missense_variant,p.Ala239Val,ENST00000558726,;TMC3,missense_variant,p.Ala239Val,ENST00000359440,NM_001080532.1;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;TMC3,non_coding_transcript_exon_variant,,ENST00000559982,;							MODERATE	716/3303	A239V	TMC3_HUMAN			Transcript		benign(0.066)	.	ENSP00000352413	8.28E-06	CCDS45324.1			1	
PRKCG	0	LGGM	GRCh37	19	54403909	54403909	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	55	22	.	.	ENST00000263431.3:c.1481T>A	p.Ile494Asn	p.I494N	ENST00000263431	NM_002739.3	494	aTc/aAc	0	1	1	UPI000000DC69	0	getma.org/pdb.php?prot=KPCG_HUMAN&from=351&to=604&var=I494N	ENST00000263431		ENSG00000126583	9402		77	3.305		HGNC	p.I381N		PRKCG		SNV			1				ENST00000542049	protein_coding	getma.org/?cm=var&var=hg19,19,54403909,T,A&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011		I/N		A	medium	1763/3133		getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=351&re=604&var=I494N	deleterious(0)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN			YES	PRKCG,missense_variant,p.Ile494Asn,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Ile494Asn,ENST00000540413,;PRKCG,missense_variant,p.Ile381Asn,ENST00000542049,;PRKCG,downstream_gene_variant,,ENST00000536044,;							MODERATE	1481/2094	I494N	KPCG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263431		CCDS12867.1			1	
USP7	0	LGGM	GRCh37	16	9012933	9012933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	17	24	.	.	ENST00000344836.4:c.675G>T	p.Met225Ile	p.M225I	ENST00000344836	NM_003470.2	225	atG/atT	0	1	1	UPI000013F0BE	0	getma.org/pdb.php?prot=UBP7_HUMAN&from=211&to=518&var=M225I	ENST00000344836		ENSG00000187555	12630		41	1.82		HGNC	p.M167I		USP7		SNV							ENST00000542333	protein_coding	getma.org/?cm=var&var=hg19,16,9012933,C,A&fts=all		Pfam_domain:PF00443,PROSITE_patterns:PS00972,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF89,Superfamily_domains:SSF54001		M/I		A	low	874/5412		getma.org/?cm=msa&ty=f&p=UBP7_HUMAN&rb=211&re=518&var=M225I	deleterious(0.04)	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN			YES	USP7,missense_variant,p.Met225Ile,ENST00000344836,NM_003470.2,NM_001286458.1;USP7,missense_variant,p.Met209Ile,ENST00000381886,NM_001286457.1;USP7,missense_variant,p.Met126Ile,ENST00000535863,;USP7,missense_variant,p.Met126Ile,ENST00000563085,;USP7,downstream_gene_variant,,ENST00000566273,;USP7,downstream_gene_variant,,ENST00000569230,;USP7,downstream_gene_variant,,ENST00000566004,;USP7,downstream_gene_variant,,ENST00000564117,;USP7,downstream_gene_variant,,ENST00000566224,;USP7,missense_variant,p.Met167Ile,ENST00000542333,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,3_prime_UTR_variant,,ENST00000565455,;							MODERATE	675/3309	M225I	UBP7_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000343535		CCDS32385.1			1	
VEPH1	0	LGGM	GRCh37	3	157081292	157081292	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072032	H072032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	34	26	.	.	ENST00000362010.2:c.1596A>C	p.Glu532Asp	p.E532D	ENST00000362010	NM_001167912.1	532	gaA/gaC	0	1	1	UPI000013F6EE	0	NA	ENST00000362010		ENSG00000197415	25735		60	0.975		HGNC	p.E532D		VEPH1		SNV							ENST00000392832	protein_coding	getma.org/?cm=var&var=hg19,3,157081292,T,G&fts=all		hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9		E/D		G	low	1904/4202		getma.org/?cm=msa&ty=f&p=MELT_HUMAN&rb=378&re=577&var=E532D	tolerated(0.44)	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN			YES	VEPH1,missense_variant,p.Glu532Asp,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Glu532Asp,ENST00000543418,NM_024621.2;VEPH1,missense_variant,p.Glu532Asp,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Glu532Asp,ENST00000392832,;RP11-550I24.2,intron_variant,,ENST00000487238,;VEPH1,downstream_gene_variant,,ENST00000488772,;VEPH1,non_coding_transcript_exon_variant,,ENST00000472419,;							MODERATE	1596/2502	E532D	MELT_HUMAN			Transcript		benign(0.002)	.	ENSP00000354919		CCDS3179.1			1	
SIGLEC12	0	LGGM	GRCh37	19	52000649	52000649	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	5	31	.	.	ENST00000291707.3:c.1456G>T	p.Gly486Ter	p.G486*	ENST00000291707	NM_053003.2	486	Gga/Tga	0	1	1	UPI0000135992	0	NA	ENST00000291707		ENSG00000254521	15482		36	0		HGNC	p.G368X		SIGLEC12		SNV							ENST00000598614	protein_coding	getma.org/?cm=var&var=hg19,19,52000649,C,A&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		G/*		A	NA	1512/2121		NA					YES	SIGLEC12,stop_gained,p.Gly486Ter,ENST00000291707,NM_053003.2;SIGLEC12,stop_gained,p.Gly368Ter,ENST00000598614,NM_033329.1;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;							HIGH	1456/1788	G486*	SIG12_HUMAN			Transcript			.	ENSP00000291707		CCDS12833.1			1	
CACNA2D4	0	LGGM	GRCh37	12	1995471	1995471	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	35	34	.	.	ENST00000382722.5:c.911G>C	p.Gly304Ala	p.G304A	ENST00000382722	NM_172364.4	304	gGg/gCg	0	1	1	UPI0000E593D9	0	NA	ENST00000382722		ENSG00000151062	20202		69	2.52		HGNC	p.G304A		CACNA2D4		SNV			1				ENST00000587995	protein_coding	getma.org/?cm=var&var=hg19,12,1995471,C,G&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF13768,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26,SMART_domains:SM00327,Superfamily_domains:SSF53300		G/A		G	medium	1274/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=290&re=455&var=G304A	deleterious(0)				YES	CACNA2D4,missense_variant,p.Gly304Ala,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Gly304Ala,ENST00000587995,;CACNA2D4,missense_variant,p.Gly304Ala,ENST00000586184,;CACNA2D4,missense_variant,p.Gly240Ala,ENST00000588077,;CACNA2D4,missense_variant,p.Gly240Ala,ENST00000585708,;CACNA2D4,intron_variant,,ENST00000585732,;CACNA2D4,missense_variant,p.Gly304Ala,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,upstream_gene_variant,,ENST00000590880,;							MODERATE	911/3414	G304A	CA2D4_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000372169		CCDS44785.1			1	
PCLO	0	LGGM	GRCh37	7	82584024	82584024	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072032	H072032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	46	34	.	.	ENST00000333891.9:c.6245C>A	p.Pro2082Gln	p.P2082Q	ENST00000333891	NM_033026.5	2082	cCa/cAa	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		80	1.7		HGNC	p.P2082Q		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82584024,G,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		P/Q		T	low	6583/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=P2013Q					YES	PCLO,missense_variant,p.Pro2082Gln,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro2082Gln,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	6245/15429	P2013Q	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
MUC17	0	LGGM	GRCh37	7	100676502	100676502	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	57	36	.	.	ENST00000306151.4:c.1805C>T	p.Thr602Ile	p.T602I	ENST00000306151	NM_001040105.1	602	aCc/aTc	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		93	0.895		HGNC	p.T602I		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100676502,C,T&fts=all		Low_complexity_(Seg):seg		T/I		T	low	1869/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T602I		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Thr602Ile,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr602Ile,ENST00000379439,;							MODERATE	1805/13482	T602I	MUC17_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000302716		CCDS34711.1			1	
THSD7B	0	LGGM	GRCh37	2	137852485	137852485	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072032	H072032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072032N.bam, H072032T.bam	Illumina HiSeq	23	49	.	.	ENST00000272643.3:c.993C>A	p.Cys331Ter	p.C331*	ENST00000272643		331	tgC/tgA	0	1	1	UPI00015E0A18	0	NA	ENST00000272643		ENSG00000144229	29348		72	0		HGNC	p.C331X		THSD7B		SNV							ENST00000409968	protein_coding	getma.org/?cm=var&var=hg19,2,137852485,C,A&fts=all		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7		C/*		A	NA	993/5942		NA					YES	THSD7B,stop_gained,p.Cys331Ter,ENST00000409968,;THSD7B,stop_gained,p.Cys331Ter,ENST00000272643,;THSD7B,stop_gained,p.Cys300Ter,ENST00000413152,NM_001080427.1;THSD7B,stop_gained,p.Cys190Ter,ENST00000543459,;							HIGH	993/4830	C331*	THS7B_HUMAN			Transcript			.	ENSP00000272643					1	
FAM178B	0	LGGM	GRCh37	2	97543745	97543745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	14	2	.	.	ENST00000490605.2:c.1889G>T	p.Arg630Leu	p.R630L	ENST00000490605		630	cGc/cTc	0	1		UPI0001642915	0	NA	ENST00000417561		ENSG00000168754	28036		16	2.14		HGNC	p.R70L		FAM178B		SNV							ENST00000393526	protein_coding	getma.org/?cm=var&var=hg19,2,97543745,C,A&fts=all		hmmpanther:PTHR16046:SF11,hmmpanther:PTHR16046		R/L		A	medium	2333/2877		getma.org/?cm=msa&ty=f&p=F178B_HUMAN&rb=341&re=826&var=R778L	deleterious(0.01)	F8W6I6_HUMAN,B3KV66_HUMAN				FAM178B,missense_variant,p.Arg778Leu,ENST00000417561,;FAM178B,missense_variant,p.Arg630Leu,ENST00000490605,;FAM178B,missense_variant,p.Arg598Leu,ENST00000327896,NM_001122646.2;FAM178B,missense_variant,p.Arg70Leu,ENST00000393526,NM_016490.4;FAM178B,non_coding_transcript_exon_variant,,ENST00000470789,;FAM178B,non_coding_transcript_exon_variant,,ENST00000494172,;							MODERATE	2333/2484	R778L	F178B_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000413245					1	
CENPU	0	LGGM	GRCh37	4	185621974	185621974	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	41	3	.	.	ENST00000281453.5:c.986G>T	p.Arg329Leu	p.R329L	ENST00000281453	NM_024629.3	329	cGg/cTg	0	1	1	UPI00001BFAF6	0	NA	ENST00000281453		ENSG00000151725	21348		44	1.995		HGNC	p.R329L		CENPU		SNV							ENST00000541971	protein_coding	getma.org/?cm=var&var=hg19,4,185621974,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR32222,hmmpanther:PTHR32222:SF1		R/L		A	medium	1057/1998		getma.org/?cm=msa&ty=f&p=CENPU_HUMAN&rb=321&re=418&var=R329L	tolerated(0.07)	D6R9S4_HUMAN			YES	CENPU,missense_variant,p.Arg329Leu,ENST00000281453,NM_024629.3;CENPU,missense_variant,p.Arg329Leu,ENST00000541971,;CENPU,intron_variant,,ENST00000506535,;CENPU,splice_region_variant,,ENST00000508095,;CENPU,intron_variant,,ENST00000510146,;CENPU,upstream_gene_variant,,ENST00000502461,;							MODERATE	986/1257	R329L	CENPU_HUMAN			Transcript		benign(0.438)	.	ENSP00000281453		CCDS3838.1			1	
COL5A1	0	LGGM	GRCh37	9	137623480	137623480	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	31	3	.	.	ENST00000371817.3:c.1303C>T	p.Pro435Ser	p.P435S	ENST00000371817	NM_001278074.1	435	Ccg/Tcg	0	1	1	UPI0000210EE3	0	NA	ENST00000371817		ENSG00000130635	2209		34	1.055		HGNC	p.P435S	COSM3413438	COL5A1		SNV			1			1	ENST00000371817	protein_coding	getma.org/?cm=var&var=hg19,9,137623480,C,T&fts=all		hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023		P/S		T	low	1717/8468		getma.org/?cm=msa&ty=f&p=CO5A1_HUMAN&rb=430&re=466&var=P435S		Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN			YES	COL5A1,missense_variant,p.Pro435Ser,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,non_coding_transcript_exon_variant,,ENST00000469093,;					1		MODERATE	1303/5517	P435S	CO5A1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000360882		CCDS6982.1			1	
ANK2	0	LGGM	GRCh37	4	114279286	114279286	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	31	3	.	.	ENST00000357077.4:c.9512C>A	p.Ser3171Ter	p.S3171*	ENST00000357077	NM_001148.4	3171	tCa/tAa	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		34	0		HGNC	p.S181X		ANK2		SNV			1				ENST00000505342	protein_coding	getma.org/?cm=var&var=hg19,4,114279286,C,A&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Low_complexity_(Seg):seg		S/*		A	NA	9565/14196		NA		D6RHC5_HUMAN			YES	ANK2,stop_gained,p.Ser3171Ter,ENST00000357077,NM_001148.4;ANK2,stop_gained,p.Ser3138Ter,ENST00000264366,;ANK2,stop_gained,p.Ser181Ter,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,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;							HIGH	9512/11874	S3171*	ANK2_HUMAN			Transcript			.	ENSP00000349588		CCDS3702.1			1	
SBNO2	0	LGGM	GRCh37	19	1110860	1110860	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	35	3	.	.	ENST00000361757.3:c.2912G>A	p.Arg971His	p.R971H	ENST00000361757	NM_014963.2	971	cGc/cAc	0	1	1	UPI0000140680	0	NA	ENST00000361757		ENSG00000064932	29158		38	3.62		HGNC	p.R971H		SBNO2		SNV							ENST00000361757	protein_coding	getma.org/?cm=var&var=hg19,19,1110860,C,T&fts=all		Pfam_domain:PF13871,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5		R/H		T	high	3150/4922		getma.org/?cm=msa&ty=f&p=SBNO2_HUMAN&rb=732&re=1010&var=R971H	deleterious(0)	K7ERL2_HUMAN,K7ENA9_HUMAN			YES	SBNO2,missense_variant,p.Arg971His,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Arg961His,ENST00000587024,;SBNO2,missense_variant,p.Arg914His,ENST00000438103,NM_001100122.1;GPX4,downstream_gene_variant,,ENST00000354171,NM_001039847.1,NM_002085.3;GPX4,downstream_gene_variant,,ENST00000589115,;GPX4,downstream_gene_variant,,ENST00000588919,;GPX4,downstream_gene_variant,,ENST00000593032,;GPX4,downstream_gene_variant,,ENST00000587648,;SBNO2,non_coding_transcript_exon_variant,,ENST00000587673,;SBNO2,non_coding_transcript_exon_variant,,ENST00000586109,;SBNO2,downstream_gene_variant,,ENST00000592222,;GPX4,downstream_gene_variant,,ENST00000592940,;GPX4,downstream_gene_variant,,ENST00000585480,;							MODERATE	2912/4101	R971H	SBNO2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354733		CCDS45894.1			1	
ITGB3	0	LGGM	GRCh37	17	45380173	45380173	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	34	4	.	.	ENST00000559488.1:c.2101G>A	p.Gly701Arg	p.G701R	ENST00000559488	NM_000212.2	701	Gga/Aga	0	1	1	UPI000013D240	0	getma.org/pdb.php?prot=ITB3_HUMAN&from=634&to=718&var=G701R	ENST00000559488		ENSG00000259207	6156		38	2.67		HGNC	p.G701R		ITGB3		SNV			1				ENST00000262017	protein_coding	getma.org/?cm=var&var=hg19,17,45380173,G,A&fts=all		hmmpanther:PTHR10082:SF25,hmmpanther:PTHR10082,Pfam_domain:PF07965,PIRSF_domain:PIRSF002512,Superfamily_domains:0039775		G/R		A	medium	2117/3995		getma.org/?cm=msa&ty=f&p=ITB3_HUMAN&rb=634&re=718&var=G701R	deleterious(0)	F2X0V0_HUMAN,F1C634_HUMAN,F1C632_HUMAN,F1C630_HUMAN			YES	ITGB3,missense_variant,p.Gly701Arg,ENST00000559488,NM_000212.2;ITGB3,missense_variant,p.Gly654Arg,ENST00000435993,;RP11-290H9.4,downstream_gene_variant,,ENST00000575039,;RP11-290H9.4,downstream_gene_variant,,ENST00000576345,;ITGB3,missense_variant,p.Gly690Arg,ENST00000560629,;							MODERATE	2101/2367	G701R	ITB3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000452786		CCDS11511.1			1	
YIPF7	0	LGGM	GRCh37	4	44631498	44631498	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	57	4	.	.	ENST00000332990.5:c.420A>G	p.Val140=	p.V140=	ENST00000332990	NM_182592.2	140	gtA/gtG	0	1	1	UPI00015347BF	0		ENST00000332990		ENSG00000177752	26825		61			HGNC	p.V140V		YIPF7		SNV							ENST00000332990	protein_coding			Pfam_domain:PF04893,hmmpanther:PTHR21236,hmmpanther:PTHR21236:SF5		V		C		437/937							YES	YIPF7,synonymous_variant,p.=,ENST00000415895,;YIPF7,synonymous_variant,p.=,ENST00000332990,NM_182592.2;YIPF7,non_coding_transcript_exon_variant,,ENST00000510035,;YIPF7,non_coding_transcript_exon_variant,,ENST00000502794,;							LOW	420/843		YIPF7_HUMAN			Transcript			.	ENSP00000332772		CCDS54766.1			1	
ROBO3	0	LGGM	GRCh37	11	124735612	124735612	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	32	4	.	.	ENST00000397801.1:c.139C>G	p.Pro47Ala	p.P47A	ENST00000397801	NM_022370.3	47	Ccc/Gcc	0	1	1	UPI000035AA82	0	NA	ENST00000397801		ENSG00000154134	13433		36	0.345		HGNC	p.P47A		ROBO3		SNV			1				ENST00000397801	protein_coding	getma.org/?cm=var&var=hg19,11,124735612,C,G&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92		P/A		G	neutral	331/4569		getma.org/?cm=msa&ty=f&p=ROBO3_HUMAN&rb=1&re=62&var=P47A	tolerated_low_confidence(0.12)	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN			YES	ROBO3,missense_variant,p.Pro47Ala,ENST00000397801,NM_022370.3;ROBO3,upstream_gene_variant,,ENST00000538940,;							MODERATE	139/4161	P47A	ROBO3_HUMAN			Transcript		benign(0.073)	.	ENSP00000380903		CCDS44755.1			1	
PLA2G4F	0	LGGM	GRCh37	15	42442594	42442594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	6	5	.	.	ENST00000382396.4:c.862C>A	p.Gln288Lys	p.Q288K	ENST00000382396		288	Cag/Aag	0	1		UPI00015DFCD6	0	NA	ENST00000397272		ENSG00000168907	27396		11	0.755		HGNC	p.T266K		PLA2G4F		SNV							ENST00000569985	protein_coding	getma.org/?cm=var&var=hg19,15,42442594,G,T&fts=all		hmmpanther:PTHR10728:SF22,hmmpanther:PTHR10728,SMART_domains:SM00022		Q/K		T	neutral	954/3498		getma.org/?cm=msa&ty=f&p=PA24F_HUMAN&rb=127&re=326&var=Q288K	tolerated(0.42)	C9J281_HUMAN				PLA2G4F,missense_variant,p.Gln288Lys,ENST00000397272,NM_213600.3;PLA2G4F,missense_variant,p.Gln288Lys,ENST00000382396,;PLA2G4F,missense_variant,p.Thr266Lys,ENST00000569985,;PLA2G4F,3_prime_UTR_variant,,ENST00000290497,;PLA2G4F,upstream_gene_variant,,ENST00000562320,;PLA2G4F,upstream_gene_variant,,ENST00000561893,;PLA2G4F,downstream_gene_variant,,ENST00000561627,;PLA2G4F,downstream_gene_variant,,ENST00000565553,;							MODERATE	862/2556	Q288K				Transcript		benign(0.003)	.	ENSP00000380442					1	
TP53	0	LGGM	GRCh37	17	7578538	7578538	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	7	5	.	.	ENST00000269305.4:c.392A>T	p.Asn131Ile	p.N131I	ENST00000269305	NM_001126112.2	131	aAc/aTc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=N131I	ENST00000269305		ENSG00000141510	11998		12	2.89		HGNC	p.N131I	TP53_g.12380A>T,COSM44794,COSM213374,COSM213373,COSM3717676,COSM3717675,COSM213375	TP53		SNV			1			0,1,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578538,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		N/I		A	medium	582/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=N131I	deleterious(0)	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			YES	TP53,missense_variant,p.Asn131Ile,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Asn131Ile,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Asn131Ile,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Asn131Ile,ENST00000445888,;TP53,missense_variant,p.Asn131Ile,ENST00000359597,;TP53,missense_variant,p.Asn131Ile,ENST00000413465,;TP53,missense_variant,p.Asn131Ile,ENST00000508793,;TP53,missense_variant,p.Asn38Ile,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,;					0,1,1,1,1,1,1		MODERATE	392/1182	N131I	P53_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000269305		CCDS11118.1			1	
PDE2A	0	LGGM	GRCh37	11	72288589	72288589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	20	5	.	.	ENST00000334456.5:c.2665G>T	p.Ala889Ser	p.A889S	ENST00000334456	NM_002599.4	889	Gcc/Tcc	0	1	1	UPI000003B340	0	getma.org/pdb.php?prot=PDE2A_HUMAN&from=655&to=892&var=A889S	ENST00000334456		ENSG00000186642	8777		25	-0.28		HGNC	p.A633S		PDE2A		SNV							ENST00000376450	protein_coding	getma.org/?cm=var&var=hg19,11,72288589,C,A&fts=all		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF102,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604		A/S		A	neutral	2911/4315		getma.org/?cm=msa&ty=f&p=PDE2A_HUMAN&rb=655&re=892&var=A889S	tolerated(0.57)	F5GXX2_HUMAN,C9JPD5_HUMAN			YES	PDE2A,missense_variant,p.Ala889Ser,ENST00000334456,NM_002599.4;PDE2A,missense_variant,p.Ala880Ser,ENST00000444035,;PDE2A,missense_variant,p.Ala633Ser,ENST00000376450,;PDE2A,missense_variant,p.Ala882Ser,ENST00000544570,NM_001243784.1,NM_001143839.3;PDE2A,missense_variant,p.Ala880Ser,ENST00000540345,NM_001146209.2;PDE2A,missense_variant,p.Ala774Ser,ENST00000418754,;PDE2A,downstream_gene_variant,,ENST00000420501,;PDE2A,downstream_gene_variant,,ENST00000441209,;PDE2A,downstream_gene_variant,,ENST00000542223,;RP11-169D4.1,downstream_gene_variant,,ENST00000450804,;PDE2A,non_coding_transcript_exon_variant,,ENST00000536918,;PDE2A,intron_variant,,ENST00000539367,;PDE2A,downstream_gene_variant,,ENST00000544239,;							MODERATE	2665/2826	A889S	PDE2A_HUMAN			Transcript		benign(0.068)	.	ENSP00000334910		CCDS8216.1			1	
RRAS2	0	LGGM	GRCh37	11	14317323	14317323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	116	5	.	.	ENST00000256196.4:c.187C>T	p.Arg63Trp	p.R63W	ENST00000256196		63	Cgg/Tgg	0	1	1	UPI0000029C08	0	getma.org/pdb.php?prot=RRAS2_HUMAN&from=8&to=177&var=R63W	ENST00000256196		ENSG00000133818	17271		121	2.525		HGNC	p.R69W	rs782189872	RRAS2		SNV			1				ENST00000545643	protein_coding	getma.org/?cm=var&var=hg19,11,14317323,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF231,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/W		A	medium	501/1516	1.50E-05	getma.org/?cm=msa&ty=f&p=RRAS2_HUMAN&rb=8&re=177&var=R63W	deleterious(0.03)	E9PQ87_HUMAN			YES	RRAS2,missense_variant,p.Arg69Trp,ENST00000545643,NM_012250.5;RRAS2,missense_variant,p.Arg28Trp,ENST00000537760,NM_001177314.1;RRAS2,missense_variant,p.Arg63Trp,ENST00000256196,;RRAS2,missense_variant,p.Arg44Trp,ENST00000531807,;RRAS2,5_prime_UTR_variant,,ENST00000414023,;RRAS2,5_prime_UTR_variant,,ENST00000529237,;RRAS2,5_prime_UTR_variant,,ENST00000534746,;RRAS2,5_prime_UTR_variant,,ENST00000532814,NM_001177315.1;RRAS2,5_prime_UTR_variant,,ENST00000526063,NM_001102669.2;RRAS2,5_prime_UTR_variant,,ENST00000531421,;RRAS2,3_prime_UTR_variant,,ENST00000532950,;RRAS2,3_prime_UTR_variant,,ENST00000526717,;							MODERATE	187/615	R63W	RRAS2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000256196	8.24E-06	CCDS7814.1			1	
RELN	0	LGGM	GRCh37	7	103202140	103202140	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	54	5	.	.	ENST00000428762.1:c.5368G>A	p.Gly1790Ser	p.G1790S	ENST00000428762	NM_005045.3	1790	Ggt/Agt	0	1	1	UPI00001678BC	0	NA	ENST00000428762		ENSG00000189056	9957		59	0.29		HGNC	p.G1790S		RELN		SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103202140,C,T&fts=all		Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR11841,SMART_domains:SM00181,Superfamily_domains:SSF50939		G/S		T	neutral	5528/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1764&re=1795&var=G1790S	tolerated(0.14)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Gly1790Ser,ENST00000424685,;RELN,missense_variant,p.Gly1790Ser,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gly1790Ser,ENST00000343529,NM_173054.2;							MODERATE	5368/10383	G1790S	RELN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000392423		CCDS47680.1			1	
TUT1	0	LGGM	GRCh37	11	62343532	62343532	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	24	6	.	.	ENST00000308436.7:c.1773C>T	p.Ala591=	p.A591=	ENST00000308436	NM_022830.2	591	gcC/gcT	0	1		UPI000013DB68	0		ENST00000476907		ENSG00000149016	26184		30			HGNC	p.A553A		TUT1		SNV							ENST00000476907	protein_coding			hmmpanther:PTHR12271:SF11,hmmpanther:PTHR12271,Superfamily_domains:SSF81631		A		A		2351/3363				C9JBX0_HUMAN				TUT1,synonymous_variant,p.=,ENST00000476907,;TUT1,synonymous_variant,p.=,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,;							LOW	1659/2625		STPAP_HUMAN			Transcript			.	ENSP00000419607					1	
ATP2B1	0	LGGM	GRCh37	12	89993022	89993022	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	57	6	.	.	ENST00000428670.3:c.3223G>A	p.Gly1075Arg	p.G1075R	ENST00000428670		1075	Gga/Aga	0	1	1	UPI000002A436	0	NA	ENST00000428670		ENSG00000070961	814		63	2.31		HGNC	p.G1075R		ATP2B1		SNV							ENST00000428670	protein_coding	getma.org/?cm=var&var=hg19,12,89993022,C,T&fts=all				G/R		T	medium	3680/7032		getma.org/?cm=msa&ty=f&p=AT2B1_HUMAN&rb=1062&re=1102&var=G1075R	deleterious(0.01)	Q3L582_HUMAN			YES	ATP2B1,missense_variant,p.Gly1075Arg,ENST00000428670,;ATP2B1,missense_variant,p.Gly1075Arg,ENST00000359142,NM_001001323.1;ATP2B1,missense_variant,p.Gly1075Arg,ENST00000261173,NM_001682.2;ATP2B1,missense_variant,p.Gly1039Arg,ENST00000348959,;ATP2B1,missense_variant,p.Gly818Arg,ENST00000393164,;ATP2B1,missense_variant,p.Gly56Arg,ENST00000550716,;ATP2B1,downstream_gene_variant,,ENST00000549727,;ATP2B1,downstream_gene_variant,,ENST00000551009,;ATP2B1,downstream_gene_variant,,ENST00000552275,;							MODERATE	3223/3663	G1075R	AT2B1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000392043		CCDS9035.1			1	
GPR158	0	LGGM	GRCh37	10	25464491	25464491	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	17	6	.	.	ENST00000376351.3:c.142C>G	p.Gln48Glu	p.Q48E	ENST00000376351	NM_020752.2	48	Cag/Gag	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		23	1.1		HGNC	p.Q48E		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25464491,C,G&fts=all		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546		Q/E		G	low	501/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=1&re=405&var=Q48E	tolerated(0.99)				YES	GPR158,missense_variant,p.Gln48Glu,ENST00000376351,NM_020752.2;GPR158-AS1,intron_variant,,ENST00000449643,;							MODERATE	142/3648	Q48E	GP158_HUMAN			Transcript		benign(0.033)	.	ENSP00000365529		CCDS31166.1			1	
PARVA	0	LGGM	GRCh37	11	12518062	12518062	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	50	7	.	.	ENST00000334956.8:c.578A>G	p.Gln193Arg	p.Q193R	ENST00000334956	NM_018222.4	193	cAg/cGg	0	1	1	UPI0000EE3866	0	NA	ENST00000334956		ENSG00000197702	14652		57	2.995		HGNC	p.Q117R		PARVA		SNV							ENST00000528916	protein_coding	getma.org/?cm=var&var=hg19,11,12518062,A,G&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF6,SMART_domains:SM00033,Superfamily_domains:SSF47576		Q/R		G	medium	921/4458		getma.org/?cm=msa&ty=f&p=PARVA_HUMAN&rb=98&re=202&var=Q153R	deleterious(0.01)	J3KNQ4_HUMAN			YES	PARVA,missense_variant,p.Gln193Arg,ENST00000334956,NM_018222.4;PARVA,missense_variant,p.Gln153Arg,ENST00000550549,;PARVA,missense_variant,p.Gln153Arg,ENST00000539723,;PARVA,missense_variant,p.Gln100Arg,ENST00000538608,;PARVA,missense_variant,p.Gln117Arg,ENST00000528916,;PARVA,intron_variant,,ENST00000533392,;PARVA,non_coding_transcript_exon_variant,,ENST00000533345,;							MODERATE	578/1239	Q153R				Transcript		probably_damaging(0.984)	.	ENSP00000334008		CCDS44541.2			1	
NPFFR1	0	LGGM	GRCh37	10	72015127	72015127	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	1	7	.	.	ENST00000277942.6:c.879C>T	p.Ile293=	p.I293=	ENST00000277942	NM_022146.4	293	atC/atT	0	1	1	UPI000005048B	0		ENST00000277942		ENSG00000148734	17425		8			HGNC	p.I291I		NPFFR1		SNV							ENST00000449957	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF4,hmmpanther:PTHR24241,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		I		A		879/8921				Q5T6D8_HUMAN			YES	NPFFR1,synonymous_variant,p.=,ENST00000277942,NM_022146.4;							LOW	879/1293		NPFF1_HUMAN			Transcript			.	ENSP00000277942		CCDS53539.1			1	
KIAA1211	0	LGGM	GRCh37	4	57182430	57182430	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	6	7	.	.	ENST00000504228.1:c.2762C>A	p.Ala921Asp	p.A921D	ENST00000504228		921	gCt/gAt	0	1		UPI0000237309	0	NA	ENST00000264229		ENSG00000109265	29219		13	1.355		HGNC	p.A921D		KIAA1211		SNV							ENST00000264229	protein_coding	getma.org/?cm=var&var=hg19,4,57182430,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		A/D		A	low	3153/4109		getma.org/?cm=msa&ty=f&p=K1211_HUMAN&rb=493&re=1231&var=A921D	tolerated(0.13)					KIAA1211,missense_variant,p.Ala921Asp,ENST00000504228,;KIAA1211,missense_variant,p.Ala914Asp,ENST00000541073,;KIAA1211,missense_variant,p.Ala921Asp,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;							MODERATE	2762/3702	A921D	K1211_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000264229		CCDS43230.1			1	
DMBT1	0	LGGM	GRCh37	10	124402773	124402773	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	103	7	.	.	ENST00000368909.3:c.7101G>A	p.Ala2367=	p.A2367=	ENST00000368909	NM_007329.2	2367	gcG/gcA	0	1		UPI000047021C	0		ENST00000338354		ENSG00000187908	2926		110			HGNC	p.A2367A	rs755724436,COSM293935,COSM293934	DMBT1	0.000121	SNV			1			0,1,1	ENST00000341278	protein_coding			SMART_domains:SM00241,Pfam_domain:PF00100,PROSITE_profiles:PS51034		A		A		7207/7686	1.50E-05			B6V682_HUMAN				DMBT1,synonymous_variant,p.=,ENST00000338354,;DMBT1,synonymous_variant,p.=,ENST00000368909,NM_007329.2;DMBT1,synonymous_variant,p.=,ENST00000368955,NM_017579.2;DMBT1,synonymous_variant,p.=,ENST00000344338,;DMBT1,synonymous_variant,p.=,ENST00000368956,NM_004406.2;DMBT1,synonymous_variant,p.=,ENST00000330163,;DMBT1,synonymous_variant,p.=,ENST00000359586,;					0,1,1		LOW	7101/7242		DMBT1_HUMAN			Transcript			.	ENSP00000342210	2.48E-05				1	
STAB1	0	LGGM	GRCh37	3	52549509	52549509	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	23	8	.	.	ENST00000321725.6:c.3935C>T	p.Ala1312Val	p.A1312V	ENST00000321725	NM_015136.2	1312	gCc/gTc	0	1	1	UPI0000140C12	0	NA	ENST00000321725		ENSG00000010327	18628		31	-1.175		HGNC	p.A1312V		STAB1		SNV							ENST00000321725	protein_coding	getma.org/?cm=var&var=hg19,3,52549509,C,T&fts=all		Gene3D:2gy5A03,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038		A/V		T	neutral	4011/7928		getma.org/?cm=msa&ty=f&p=STAB1_HUMAN&rb=1244&re=1443&var=A1312V	tolerated(1)				YES	STAB1,missense_variant,p.Ala1312Val,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;							MODERATE	3935/7713	A1312V	STAB1_HUMAN			Transcript		benign(0.005)	.	ENSP00000312946		CCDS33768.1			1	
HERC1	0	LGGM	GRCh37	15	64039926	64039926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	11	8	.	.	ENST00000443617.2:c.2351C>T	p.Ser784Leu	p.S784L	ENST00000443617	NM_003922.3	784	tCa/tTa	0	1	1	UPI0000212760	0	NA	ENST00000443617		ENSG00000103657	4867		19	1.245		HGNC	p.S784L		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,64039926,G,A&fts=all		hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870		S/L		A	low	2439/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=734&re=933&var=S784L		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Ser784Leu,ENST00000443617,NM_003922.3;HERC1,intron_variant,,ENST00000561400,;HERC1,non_coding_transcript_exon_variant,,ENST00000560519,;HERC1,downstream_gene_variant,,ENST00000559886,;							MODERATE	2351/14586	S784L	HERC1_HUMAN			Transcript		benign(0.324)	.	ENSP00000390158		CCDS45277.1			1	
NRXN3	0	LGGM	GRCh37	14	80164181	80164181	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	109	8	.	.	ENST00000554719.1:c.2706G>A	p.Thr902=	p.T902=	ENST00000554719	NM_004796.5	902	acG/acA	0	1		UPI000013DC5A	0		ENST00000557594		ENSG00000021645	8010		117			HGNC	p.T300T		NRXN3		SNV							ENST00000428277	protein_coding			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF405		T		A		1763/3381				B3KTX7_HUMAN				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,intron_variant,,ENST00000556003,;NRXN3,synonymous_variant,p.=,ENST00000554738,;NRXN3,synonymous_variant,p.=,ENST00000555387,;							LOW	810/1914		NRX3B_HUMAN			Transcript			.	ENSP00000451672		CCDS61515.1			1	
CHRNA7	0	LGGM	GRCh37	15	32460237	32460237	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	50	9	.	.	ENST00000454250.3:c.1174C>T	p.Arg392Cys	p.R392C	ENST00000454250	NM_001190455.2	392	Cgc/Tgc	0	1		UPI000003581A	0	NA	ENST00000306901		ENSG00000175344	1960		59	2.145		HGNC	p.R392C	rs773136779	CHRNA7	6.08E-05	SNV			1	0.000203			ENST00000454250	protein_coding	getma.org/?cm=var&var=hg19,15,32460237,C,T&fts=all		hmmpanther:PTHR18945:SF480,hmmpanther:PTHR18945,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112		R/C		T	medium	1184/5669		getma.org/?cm=msa&ty=f&p=ACHA7_HUMAN&rb=237&re=487&var=R363C	tolerated(0.07)	Q693P7_HUMAN				CHRNA7,missense_variant,p.Arg363Cys,ENST00000306901,NM_000746.5;CHRNA7,missense_variant,p.Arg392Cys,ENST00000454250,NM_001190455.2;CHRNA7,missense_variant,p.Arg182Cys,ENST00000455693,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;							MODERATE	1087/1509	R363C	ACHA7_HUMAN			Transcript		benign(0.075)	.	ENSP00000303727	2.47E-05	CCDS10027.1			1	
CSF1R	0	LGGM	GRCh37	5	149459615	149459615	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	19	9	.	.	ENST00000286301.3:c.592G>C	p.Val198Leu	p.V198L	ENST00000286301	NM_005211.3	198	Gtc/Ctc	0	1	1	UPI000004984A	0	getma.org/pdb.php?prot=CSF1R_HUMAN&from=86&to=216&var=V198L	ENST00000286301		ENSG00000182578	2433		28	2.125		HGNC	p.V198L		CSF1R		SNV			1				ENST00000286301	protein_coding	getma.org/?cm=var&var=hg19,5,149459615,C,G&fts=all		hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Gene3D:2.60.40.10,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615		V/L		G	medium	884/3989		getma.org/?cm=msa&ty=f&p=CSF1R_HUMAN&rb=86&re=216&var=V198L	tolerated(0.33)	Q6LEI2_HUMAN,D6RGW1_HUMAN			YES	CSF1R,missense_variant,p.Val198Leu,ENST00000286301,NM_005211.3,NM_001288705.1;CSF1R,missense_variant,p.Val198Leu,ENST00000543093,;CSF1R,incomplete_terminal_codon_variant,p.=,ENST00000511344,;CSF1R,missense_variant,p.Val198Leu,ENST00000504875,;CSF1R,splice_region_variant,,ENST00000502660,;							MODERATE	592/2919	V198L	CSF1R_HUMAN			Transcript		benign(0.02)	.	ENSP00000286301		CCDS4302.1			1	
LRRC37B	0	LGGM	GRCh37	17	30348324	30348324	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	96	9	.	.	ENST00000341671.7:c.159C>T	p.Ser53=	p.S53=	ENST00000341671	NM_052888.2	53	tcC/tcT	0	1	1	UPI000044D37B	0		ENST00000341671		ENSG00000185158	29070		105			HGNC	p.S53S		LRRC37B		SNV							ENST00000394713	protein_coding			hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF5		S		T		164/3025				J3QL10_HUMAN,F5H5K1_HUMAN			YES	LRRC37B,synonymous_variant,p.=,ENST00000327564,;LRRC37B,synonymous_variant,p.=,ENST00000341671,NM_052888.2;LRRC37B,synonymous_variant,p.=,ENST00000584368,;LRRC37B,synonymous_variant,p.=,ENST00000394713,;LRRC37B,intron_variant,,ENST00000543378,;LRRC37B,intron_variant,,ENST00000579206,;LRRC37B,intron_variant,,ENST00000583342,;LRRC37B,upstream_gene_variant,,ENST00000581786,;LRRC37B,upstream_gene_variant,,ENST00000580871,;LRRC37B,downstream_gene_variant,,ENST00000581370,;LRRC37B,synonymous_variant,p.=,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583204,;LRRC37B,upstream_gene_variant,,ENST00000582815,;RP11-640N20.5,downstream_gene_variant,,ENST00000448026,;							LOW	159/2844		LR37B_HUMAN			Transcript			.	ENSP00000340519		CCDS32609.1			1	
GPR75	0	LGGM	GRCh37	2	54081694	54081694	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	7	9	.	.	ENST00000394705.2:c.200T>C	p.Phe67Ser	p.F67S	ENST00000394705	NM_006794.3	67	tTc/tCc	0	1	1	UPI0000050454	0		ENST00000394705		ENSG00000119737	4526		16			HGNC	p.F67S		GPR75		SNV							ENST00000394705	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		F/S		G		471/2115			deleterious(0.04)				YES	GPR75,missense_variant,p.Phe67Ser,ENST00000394705,NM_006794.3;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;							MODERATE	200/1623		GPR75_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000378195		CCDS1849.1			1	
PNMT	0	LGGM	GRCh37	17	37825933	37825933	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	25	9	.	.	ENST00000269582.2:c.254A>G	p.Tyr85Cys	p.Y85C	ENST00000269582	NM_002686.4	85	tAc/tGc	0	1	1	UPI0000111BE4	0	getma.org/pdb.php?prot=PNMT_HUMAN&from=14&to=279&var=Y85C	ENST00000269582		ENSG00000141744	9160		34	2.61		HGNC	p.Y85C		PNMT		SNV							ENST00000269582	protein_coding	getma.org/?cm=var&var=hg19,17,37825933,A,G&fts=all		PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF18,PROSITE_patterns:PS01100,Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,Superfamily_domains:SSF53335		Y/C		G	medium	572/1253		getma.org/?cm=msa&ty=f&p=PNMT_HUMAN&rb=14&re=279&var=Y85C	deleterious(0)	J3QRI3_HUMAN,A8MT87_HUMAN			YES	PNMT,missense_variant,p.Tyr85Cys,ENST00000269582,NM_002686.4;PNMT,missense_variant,p.Tyr85Cys,ENST00000581428,;PNMT,5_prime_UTR_variant,,ENST00000394246,;PGAP3,downstream_gene_variant,,ENST00000300658,NM_033419.3;PGAP3,downstream_gene_variant,,ENST00000378011,;PGAP3,downstream_gene_variant,,ENST00000579146,;TCAP,downstream_gene_variant,,ENST00000309889,;PGAP3,downstream_gene_variant,,ENST00000429199,;TCAP,downstream_gene_variant,,ENST00000578283,NM_003673.3;PGAP3,downstream_gene_variant,,ENST00000309862,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000582276,;							MODERATE	254/849	Y85C	PNMT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269582		CCDS11343.1			1	
PRSS45	0	LGGM	GRCh37	3	46784443	46784443	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	62	10	.	.	ENST00000442359.2:c.413A>G	p.Asp138Gly	p.D138G	ENST00000442359	NM_199183.2	138	gAc/gGc	0	1	1	UPI0000F3B8DC	0		ENST00000442359		ENSG00000188086	30717		72			HGNC	p.D138G		PRSS45		SNV							ENST00000442359	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF47,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		D/G		C		413/687			deleterious(0.03)				YES	PRSS45,missense_variant,p.Asp138Gly,ENST00000442359,NM_199183.2;PRSS50,intron_variant,,ENST00000460241,;PRSS45,3_prime_UTR_variant,,ENST00000423292,;							MODERATE	413/687		PRS45_HUMAN			Transcript		benign(0.167)	.	ENSP00000401932		CCDS46815.1			1	
DSCAML1	0	LGGM	GRCh37	11	117308092	117308092	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	45	10	.	.	ENST00000321322.6:c.4646C>A	p.Thr1549Asn	p.T1549N	ENST00000321322	NM_020693.2	1549	aCc/aAc	0	1	1	UPI00000726E2	0	NA	ENST00000321322		ENSG00000177103	14656		55	2.08		HGNC	p.T1549N		DSCAML1		SNV							ENST00000321322	protein_coding	getma.org/?cm=var&var=hg19,11,117308092,G,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/N		T	medium	4648/6899		getma.org/?cm=msa&ty=f&p=DSCL1_HUMAN&rb=1479&re=1569&var=T1489N	deleterious(0.04)				YES	DSCAML1,missense_variant,p.Thr1549Asn,ENST00000321322,NM_020693.2;DSCAML1,missense_variant,p.Thr1279Asn,ENST00000527706,;							MODERATE	4646/6342	T1489N	DSCL1_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000315465		CCDS8384.1			1	
AXIN1	0	LGGM	GRCh37	16	343540	343540	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	7	10	.	.	ENST00000262320.3:c.2134C>T	p.Arg712Ter	p.R712*	ENST00000262320	NM_003502.3	712	Cga/Tga	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		17	0		HGNC	p.R712X	COSM2919333	AXIN1		SNV			1			1	ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,343540,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		R/*		A	NA	2506/3643		NA					YES	AXIN1,stop_gained,p.Arg712Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Arg712Ter,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;					1		HIGH	2134/2589	R712*	AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
BACE1	0	LGGM	GRCh37	11	117163836	117163836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	128	11	.	.	ENST00000313005.6:c.774G>T	p.Trp258Cys	p.W258C	ENST00000313005	NM_138971.3	258	tgG/tgT	0	1	1	UPI000013F419	0	getma.org/pdb.php?prot=BACE1_HUMAN&from=74&to=418&var=W258C	ENST00000313005		ENSG00000186318	933		139	2.165		HGNC	p.W258C		BACE1		SNV							ENST00000528053	protein_coding	getma.org/?cm=var&var=hg19,11,117163836,C,A&fts=all		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF245,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630		W/C		A	medium	1235/5847		getma.org/?cm=msa&ty=f&p=BACE1_HUMAN&rb=74&re=418&var=W258C	deleterious(0)	U3KPS1_HUMAN,H0YDX0_HUMAN			YES	BACE1,missense_variant,p.Trp258Cys,ENST00000313005,NM_138971.3,NM_138972.3,NM_012104.4,NM_138973.3;BACE1,missense_variant,p.Trp158Cys,ENST00000392937,NM_001207049.1,NM_001207048.1;BACE1,missense_variant,p.Trp258Cys,ENST00000528053,;BACE1,missense_variant,p.Trp233Cys,ENST00000513780,;BACE1,missense_variant,p.Trp214Cys,ENST00000445823,;BACE1,missense_variant,p.Trp189Cys,ENST00000428381,;BACE1,missense_variant,p.Trp133Cys,ENST00000510630,;BACE1,missense_variant,p.Trp24Cys,ENST00000504995,;BACE1,missense_variant,p.Trp24Cys,ENST00000510915,;BACE1,downstream_gene_variant,,ENST00000514464,;BACE1,non_coding_transcript_exon_variant,,ENST00000530824,;BACE1,upstream_gene_variant,,ENST00000509916,;							MODERATE	774/1506	W258C	BACE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318585		CCDS8383.1			1	
CA10	0	LGGM	GRCh37	17	49731048	49731048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	29	12	.	.	ENST00000451037.2:c.515C>A	p.Ala172Asp	p.A172D	ENST00000451037	NM_020178.4	172	gCt/gAt	0	1		UPI000000167C	0	getma.org/pdb.php?prot=CAH10_HUMAN&from=33&to=301&var=A172D	ENST00000285273		ENSG00000154975	1369		41	3.835		HGNC	p.A178D		CA10		SNV							ENST00000340813	protein_coding	getma.org/?cm=var&var=hg19,17,49731048,G,T&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF91,hmmpanther:PTHR18952,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069		A/D		T	high	1627/2914		getma.org/?cm=msa&ty=f&p=CAH10_HUMAN&rb=33&re=301&var=A172D	deleterious(0)	I3L375_HUMAN,B4DGL6_HUMAN				CA10,missense_variant,p.Ala172Asp,ENST00000451037,NM_020178.4;CA10,missense_variant,p.Ala172Asp,ENST00000442502,NM_001082534.1;CA10,missense_variant,p.Ala172Asp,ENST00000285273,NM_001082533.1;CA10,missense_variant,p.Ala178Asp,ENST00000340813,;CA10,missense_variant,p.Ala97Asp,ENST00000570565,;CA10,missense_variant,p.Ala172Asp,ENST00000575181,;CA10,non_coding_transcript_exon_variant,,ENST00000571918,;CA10,3_prime_UTR_variant,,ENST00000571371,;							MODERATE	515/987	A172D	CAH10_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000285273		CCDS32684.1			1	
ROBO4	0	LGGM	GRCh37	11	124756951	124756951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	41	12	.	.	ENST00000306534.3:c.2357G>T	p.Gly786Val	p.G786V	ENST00000306534	NM_019055.5	786	gGg/gTg	0	1	1	UPI000004A023	0	NA	ENST00000306534		ENSG00000154133	17985		53	1.935		HGNC	p.G786V		ROBO4		SNV							ENST00000306534	protein_coding	getma.org/?cm=var&var=hg19,11,124756951,C,A&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF1		G/V		A	medium	2843/4710		getma.org/?cm=msa&ty=f&p=ROBO4_HUMAN&rb=539&re=1005&var=G786V	deleterious(0.01)	B4DYV8_HUMAN			YES	ROBO4,missense_variant,p.Gly786Val,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Gly641Val,ENST00000533054,;RP11-664I21.6,upstream_gene_variant,,ENST00000524433,;RP11-664I21.5,intron_variant,,ENST00000524453,;ROBO4,non_coding_transcript_exon_variant,,ENST00000534407,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000525182,;							MODERATE	2357/3024	G786V	ROBO4_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000304945		CCDS8455.1			1	
TBCEL	0	LGGM	GRCh37	11	120925918	120925918	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	40	13	.	.	ENST00000422003.2:c.613C>G	p.Leu205Val	p.L205V	ENST00000422003	NM_152715.3	205	Ctc/Gtc	0	1	1	UPI0000D62697	0	NA	ENST00000422003		ENSG00000154114	28115		53	2.57		HGNC	p.L205V		TBCEL		SNV							ENST00000529397	protein_coding	getma.org/?cm=var&var=hg19,11,120925918,C,G&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR15140,hmmpanther:PTHR15140:SF10,Superfamily_domains:SSF52058		L/V		G	medium	801/5142		getma.org/?cm=msa&ty=f&p=TBCEL_HUMAN&rb=201&re=400&var=L205V	deleterious(0)	E9PNS0_HUMAN,E9PJJ0_HUMAN			YES	TBCEL,missense_variant,p.Leu205Val,ENST00000422003,NM_152715.3;TBCEL,missense_variant,p.Leu205Val,ENST00000524726,;TBCEL,missense_variant,p.Leu205Val,ENST00000529397,NM_001130047.1;TBCEL,5_prime_UTR_variant,,ENST00000533134,;TBCEL,3_prime_UTR_variant,,ENST00000284259,;TBCEL,non_coding_transcript_exon_variant,,ENST00000533169,;TBCEL,intron_variant,,ENST00000531148,;TBCEL,intron_variant,,ENST00000533712,;							MODERATE	613/1275	L205V	TBCEL_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000403925		CCDS31692.1			1	
ATP13A1	0	LGGM	GRCh37	19	19760583	19760583	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	13	13	.	.	ENST00000357324.6:c.2502G>A	p.Val834=	p.V834=	ENST00000357324	NM_020410.2	834	gtG/gtA	0	1	1	UPI0000126647	0		ENST00000357324		ENSG00000105726	24215		26			HGNC	p.V834V		ATP13A1		SNV							ENST00000357324	protein_coding			TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01657,Pfam_domain:PF12710,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82		V		T		2529/3861				Q8N3E5_HUMAN			YES	ATP13A1,synonymous_variant,p.=,ENST00000357324,NM_020410.2;ATP13A1,synonymous_variant,p.=,ENST00000291503,;ATP13A1,downstream_gene_variant,,ENST00000496082,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000473243,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000469641,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000497556,;ATP13A1,upstream_gene_variant,,ENST00000467160,;ATP13A1,downstream_gene_variant,,ENST00000491221,;ATP13A1,downstream_gene_variant,,ENST00000497156,;ATP13A1,downstream_gene_variant,,ENST00000497762,;ATP13A1,downstream_gene_variant,,ENST00000471063,;							LOW	2502/3615		AT131_HUMAN			Transcript			.	ENSP00000349877		CCDS32970.2			1	
NRF1	0	LGGM	GRCh37	7	129297384	129297384	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	58	13	.	.	ENST00000393232.1:c.193G>T	p.Asp65Tyr	p.D65Y	ENST00000393232	NM_005011.3	65	Gat/Tat	0	1		UPI000003BB3B	0	NA	ENST00000223190		ENSG00000106459	7996		71	0.55		HGNC	p.D65Y		NRF1		SNV							ENST00000393231	protein_coding	getma.org/?cm=var&var=hg19,7,129297384,G,T&fts=all		hmmpanther:PTHR20338		D/Y		T	neutral	271/2424		getma.org/?cm=msa&ty=f&p=NRF1_HUMAN&rb=1&re=74&var=D65Y	deleterious(0)	C9JP85_HUMAN,B4DDV6_HUMAN				NRF1,missense_variant,p.Asp65Tyr,ENST00000393232,NM_005011.3;NRF1,missense_variant,p.Asp65Tyr,ENST00000393230,NM_001040110.1;NRF1,missense_variant,p.Asp65Tyr,ENST00000353868,;NRF1,missense_variant,p.Asp65Tyr,ENST00000311967,;NRF1,missense_variant,p.Asp65Tyr,ENST00000223190,;NRF1,missense_variant,p.Asp65Tyr,ENST00000393231,;NRF1,missense_variant,p.Asp65Tyr,ENST00000454688,;NRF1,5_prime_UTR_variant,,ENST00000539636,;							MODERATE	193/1512	D65Y	NRF1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000223190		CCDS5813.2			1	
CACNA2D3	0	LGGM	GRCh37	3	55108186	55108186	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	59	14	.	.	ENST00000474759.1:c.3229A>G	p.Thr1077Ala	p.T1077A	ENST00000474759	NM_018398.2	1077	Aca/Gca	0	1		UPI000004A7BF	0	NA	ENST00000288197		ENSG00000157445	15460		73	-0.345		HGNC	p.T983A	rs770193687	CACNA2D3	6.06E-05	SNV							ENST00000490478	protein_coding	getma.org/?cm=var&var=hg19,3,55108186,A,G&fts=all		hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166		T/A		G	neutral	3277/3671		getma.org/?cm=msa&ty=f&p=CA2D3_HUMAN&rb=950&re=1091&var=T1077A	tolerated(0.56)	C9JAV5_HUMAN				CACNA2D3,missense_variant,p.Thr1077Ala,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Thr1077Ala,ENST00000288197,;CACNA2D3,missense_variant,p.Thr1077Ala,ENST00000415676,;CACNA2D3,missense_variant,p.Thr983Ala,ENST00000490478,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000478261,;CACNA2D3,3_prime_UTR_variant,,ENST00000471363,;CACNA2D3,non_coding_transcript_exon_variant,,ENST00000471865,;							MODERATE	3229/3276	T1077A	CA2D3_HUMAN			Transcript		benign(0)	.	ENSP00000288197	8.26E-06				1	
EHD2	0	LGGM	GRCh37	19	48244202	48244202	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	16	14	.	.	ENST00000263277.3:c.1145T>G	p.Leu382Arg	p.L382R	ENST00000263277	NM_014601.3	382	cTg/cGg	0	1	1	UPI0000071B66	0	getma.org/pdb.php?prot=EHD2_HUMAN&from=222&to=421&var=L382R	ENST00000263277		ENSG00000024422	3243		30	2.595		HGNC	p.L382R		EHD2		SNV							ENST00000263277	protein_coding	getma.org/?cm=var&var=hg19,19,48244202,T,G&fts=all		hmmpanther:PTHR11216:SF62,hmmpanther:PTHR11216		L/R		G	medium	1396/3585		getma.org/?cm=msa&ty=f&p=EHD2_HUMAN&rb=222&re=421&var=L382R	deleterious(0)	B7ZAY3_HUMAN,B4DU62_HUMAN,B4DNU6_HUMAN			YES	EHD2,missense_variant,p.Leu382Arg,ENST00000263277,NM_014601.3;EHD2,missense_variant,p.Leu246Arg,ENST00000538399,;GLTSCR2,upstream_gene_variant,,ENST00000246802,NM_015710.4;EHD2,non_coding_transcript_exon_variant,,ENST00000540884,;GLTSCR2,upstream_gene_variant,,ENST00000598681,;GLTSCR2,upstream_gene_variant,,ENST00000599253,;GLTSCR2,upstream_gene_variant,,ENST00000599582,;EHD2,3_prime_UTR_variant,,ENST00000596225,;GLTSCR2,upstream_gene_variant,,ENST00000600410,;GLTSCR2,upstream_gene_variant,,ENST00000594525,;							MODERATE	1145/1632	L382R	EHD2_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000263277		CCDS12704.1			1	
KRT33A	0	LGGM	GRCh37	17	39503441	39503441	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	19	14	.	.	ENST00000007735.3:c.622C>T	p.Arg208Cys	p.R208C	ENST00000007735	NM_004138.3	208	Cgc/Tgc	0	1	1	UPI000013C503	0	NA	ENST00000007735		ENSG00000006059	6450		33	3.165		HGNC	p.R208C	rs754527074	KRT33A	0.000251	SNV				9.62E-05			ENST00000007735	protein_coding	getma.org/?cm=var&var=hg19,17,39503441,G,A&fts=all		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF98		R/C		A	medium	667/1287	4.51E-05	getma.org/?cm=msa&ty=f&p=KT33A_HUMAN&rb=55&re=366&var=R208C	deleterious(0)				YES	KRT33A,missense_variant,p.Arg208Cys,ENST00000007735,NM_004138.3;							MODERATE	622/1215	R208C	KT33A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000007735	6.59E-05	CCDS11388.1			1	
ASGR1	0	LGGM	GRCh37	17	7077578	7077592	+	inframe_deletion	In_Frame_Del	DEL	CAGTTGACCGGGCAG	CAGTTGACCGGGCAG	-	novel	by Submitter	H072056	H072056N.bam	CAGTTGACCGGGCAG	CAGTTGACCGGGCAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	31	14	.	.	ENST00000269299.3:c.459_473del	p.Cys153_Asn157del	p.C153_N157del	ENST00000269299	NM_001197216.2	153	tgCTGCCCGGTCAACTGg/tgg	0	1	1	UPI0000001604	0		ENST00000269299		ENSG00000141505	742		45			HGNC	p.153_158del		ASGR1		deletion							ENST00000269299	protein_coding			hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF208,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		CCPVNW/W		-		859-873/1504				Q6FGQ5_HUMAN,J3QSZ2_HUMAN,I3L2S9_HUMAN,I3L1F8_HUMAN,I3L129_HUMAN			YES	ASGR1,inframe_deletion,p.Cys114_Asn118del,ENST00000574388,;ASGR1,inframe_deletion,p.Cys153_Asn157del,ENST00000269299,NM_001197216.2,NM_001671.4;ASGR1,inframe_deletion,p.Cys52_Asn56del,ENST00000380920,;ASGR1,inframe_deletion,p.Cys81_Asn85del,ENST00000574330,;ASGR1,inframe_deletion,p.Cys13_Asn17del,ENST00000572879,;ASGR1,downstream_gene_variant,,ENST00000573083,;ASGR1,downstream_gene_variant,,ENST00000570576,;ASGR1,downstream_gene_variant,,ENST00000573596,;							MODERATE	459-473/876		ASGR1_HUMAN			Transcript			.	ENSP00000269299		CCDS11089.1			1	
IL24	0	LGGM	GRCh37	1	207072745	207072745	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	41	14	.	.	ENST00000391929.3:c.128T>G	p.Leu43Arg	p.L43R	ENST00000391929		43	cTc/cGc	0	1		UPI0000037343	0	NA	ENST00000294984		ENSG00000162892	11346		55	2.33		HGNC	p.L42R		IL24		SNV							ENST00000294984	protein_coding	getma.org/?cm=var&var=hg19,1,207072745,T,G&fts=all		hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF9		L/R		G	medium	399/1701		getma.org/?cm=msa&ty=f&p=IL24_HUMAN&rb=1&re=204&var=L42R	deleterious(0)					IL24,missense_variant,p.Leu43Arg,ENST00000367093,NM_001185157.1,NM_001185158.1;IL24,missense_variant,p.Leu42Arg,ENST00000294984,NM_006850.3,NM_001185156.1;IL24,missense_variant,p.Leu43Arg,ENST00000391929,;IL24,intron_variant,,ENST00000480741,;FAIM3,downstream_gene_variant,,ENST00000367091,NM_005449.4;IL24,intron_variant,,ENST00000491169,;IL24,intron_variant,,ENST00000367095,;							MODERATE	125/621	L42R	IL24_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000294984		CCDS1471.1			1	
SLC35G6	0	LGGM	GRCh37	17	7386077	7386077	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	22	15	.	.	ENST00000412468.2:c.774A>G	p.Ala258=	p.A258=	ENST00000412468	NM_001102614.1	258	gcA/gcG	0	1	1	UPI000021D25A	0		ENST00000412468		ENSG00000259224	31351		37			HGNC	p.A258A		SLC35G6		SNV							ENST00000412468	protein_coding			Superfamily_domains:0043518,Pfam_domain:PF00892,hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Transmembrane_helices:TMhelix		A		G		889/1195							YES	SLC35G6,synonymous_variant,p.=,ENST00000412468,NM_001102614.1;ZBTB4,intron_variant,,ENST00000311403,NM_020899.3;POLR2A,upstream_gene_variant,,ENST00000322644,NM_000937.4;ZBTB4,upstream_gene_variant,,ENST00000380599,NM_001128833.1;POLR2A,upstream_gene_variant,,ENST00000572844,;							LOW	774/1017		S35G6_HUMAN			Transcript			.	ENSP00000396523		CCDS45603.1			1	
IRF5	0	LGGM	GRCh37	7	128588783	128588783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	54	16	.	.	ENST00000357234.5:c.1456C>T	p.Arg486Trp	p.R486W	ENST00000357234		486	Cgg/Tgg	0	1		UPI000012D88C	0	NA	ENST00000249375		ENSG00000128604	6120		70	1.245		HGNC	p.R470W	rs537292247	IRF5		SNV			1	9.63E-05			ENST00000473745	protein_coding	getma.org/?cm=var&var=hg19,7,128588783,C,T&fts=all	T:0.0008	hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF10,Gene3D:2.60.200.10		R/W		T	low	1448/2749		getma.org/?cm=msa&ty=f&p=IRF5_HUMAN&rb=432&re=498&var=R470W	deleterious_low_confidence(0.03)	Q64GB0_HUMAN,I6ZU14_HUMAN,C9JYP7_HUMAN,C9JB67_HUMAN,C9J7M2_HUMAN	T:0	T:0		IRF5,missense_variant,p.Arg470Trp,ENST00000402030,NM_001098630.1,NM_001098629.1;IRF5,missense_variant,p.Arg470Trp,ENST00000249375,NM_032643.3;IRF5,missense_variant,p.Arg470Trp,ENST00000473745,NM_001098627.2;IRF5,missense_variant,p.Arg486Trp,ENST00000357234,;IRF5,missense_variant,p.Arg384Trp,ENST00000477535,NM_001242452.1;IRF5,downstream_gene_variant,,ENST00000489702,;IRF5,downstream_gene_variant,,ENST00000479582,;IRF5,downstream_gene_variant,,ENST00000464557,;IRF5,3_prime_UTR_variant,,ENST00000465603,;IRF5,downstream_gene_variant,,ENST00000461416,;IRF5,downstream_gene_variant,,ENST00000488569,;IRF5,downstream_gene_variant,,ENST00000473787,;		T:0.0002					MODERATE	1408/1497	R470W	IRF5_HUMAN		T:0	Transcript		possibly_damaging(0.53)	.	ENSP00000249375	8.24E-06	CCDS5808.1		T:0	1	
FAM194A	0	LGGM	GRCh37	3	150403540	150403540	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	45	16	.	.	ENST00000295910.6:c.772A>G	p.Ile258Val	p.I258V	ENST00000295910	NM_152394.3	258	Att/Gtt	0	1	1	UPI000023281A	0	NA	ENST00000295910		ENSG00000163645	28602		61	0.695		HGNC	p.I258V		FAM194A		SNV							ENST00000295910	protein_coding	getma.org/?cm=var&var=hg19,3,150403540,T,C&fts=all		hmmpanther:PTHR23093:SF11,hmmpanther:PTHR23093		I/V		C	neutral	825/2052		getma.org/?cm=msa&ty=f&p=F194A_HUMAN&rb=1&re=661&var=I258V	tolerated(0.32)				YES	FAM194A,missense_variant,p.Ile258Val,ENST00000295910,NM_152394.3;FAM194A,missense_variant,p.Ile112Val,ENST00000491361,;FAM194A,downstream_gene_variant,,ENST00000474463,;FAM194A,upstream_gene_variant,,ENST00000491716,;							MODERATE	772/1992	I258V	F194A_HUMAN			Transcript		benign(0.015)	.	ENSP00000295910		CCDS3151.2			1	
RAPGEF4	0	LGGM	GRCh37	2	173852935	173852935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	42	16	.	.	ENST00000397081.3:c.1162G>T	p.Gly388Trp	p.G388W	ENST00000397081	NM_007023.3	388	Ggg/Tgg	0	1	1	UPI000006D4C7	0	getma.org/pdb.php?prot=RPGF4_HUMAN&from=375&to=461&var=G388W	ENST00000397081		ENSG00000091428	16626		58	4.59		HGNC	p.G244W		RAPGEF4		SNV							ENST00000397087	protein_coding	getma.org/?cm=var&var=hg19,2,173852935,G,T&fts=all		PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00103		G/W		T	high	1305/4299		getma.org/?cm=msa&ty=f&p=RPGF4_HUMAN&rb=375&re=461&var=G388W	deleterious(0)	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN			YES	RAPGEF4,missense_variant,p.Gly387Trp,ENST00000264111,;RAPGEF4,missense_variant,p.Gly388Trp,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Gly244Trp,ENST00000397087,NM_001100397.1,NM_001282899.1,NM_001282901.1;RAPGEF4,missense_variant,p.Gly388Trp,ENST00000409036,;RAPGEF4,missense_variant,p.Gly235Trp,ENST00000540783,;RAPGEF4,missense_variant,p.Gly235Trp,ENST00000539331,;RAPGEF4,missense_variant,p.Gly217Trp,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Gly168Trp,ENST00000535187,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000459852,;							MODERATE	1162/3036	G388W	RPGF4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380271		CCDS42775.1			1	
LRRC3B	0	LGGM	GRCh37	3	26751433	26751433	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	54	16	.	.	ENST00000396641.2:c.270G>T	p.Leu90=	p.L90=	ENST00000396641	NM_052953.2	90	ctG/ctT	0	1	1	UPI000000D990	0		ENST00000396641		ENSG00000179796	28105		70			HGNC	p.L90L		LRRC3B		SNV							ENST00000456208	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF134,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		T		862/1696				C9JMC7_HUMAN,C9J6A1_HUMAN			YES	LRRC3B,synonymous_variant,p.=,ENST00000396641,NM_052953.2;LRRC3B,synonymous_variant,p.=,ENST00000417744,;LRRC3B,synonymous_variant,p.=,ENST00000456208,;LRRC3B,synonymous_variant,p.=,ENST00000432040,;LRRC3B,downstream_gene_variant,,ENST00000414619,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;							LOW	270/780		LRC3B_HUMAN			Transcript			.	ENSP00000379880		CCDS2644.1			1	
APPL1	0	LGGM	GRCh37	3	57293998	57293998	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	36	17	.	.	ENST00000288266.3:c.1609A>G	p.Ile537Val	p.I537V	ENST00000288266	NM_012096.2	537	Atc/Gtc	0	1	1	UPI00000712DA	0	getma.org/pdb.php?prot=DP13A_HUMAN&from=502&to=633&var=I537V	ENST00000288266		ENSG00000157500	24035		53	1.9		HGNC	p.I537V		APPL1		SNV							ENST00000288266	protein_coding	getma.org/?cm=var&var=hg19,3,57293998,A,G&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,SMART_domains:SM00462,Superfamily_domains:SSF50729		I/V		G	low	1756/6058		getma.org/?cm=msa&ty=f&p=DP13A_HUMAN&rb=502&re=633&var=I537V	tolerated(0.3)				YES	APPL1,missense_variant,p.Ile537Val,ENST00000288266,NM_012096.2;APPL1,non_coding_transcript_exon_variant,,ENST00000482800,;APPL1,non_coding_transcript_exon_variant,,ENST00000464446,;APPL1,non_coding_transcript_exon_variant,,ENST00000488530,;APPL1,non_coding_transcript_exon_variant,,ENST00000492501,;							MODERATE	1609/2130	I537V	DP13A_HUMAN			Transcript		benign(0.004)	.	ENSP00000288266		CCDS2882.1			1	
DNAH8	0	LGGM	GRCh37	6	38794145	38794145	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	108	17	.	.	ENST00000359357.3:c.3410A>G	p.Asp1137Gly	p.D1137G	ENST00000359357		1137	gAc/gGc	0	1	1	UPI00003677EB	0	NA	ENST00000359357		ENSG00000124721	2952		125	2.75		HGNC	p.D1137G		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38794145,A,G&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		D/G		G	medium	3664/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1096&re=1265&var=D1137G					YES	DNAH8,missense_variant,p.Asp1342Gly,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Asp1137Gly,ENST00000359357,;DNAH8,missense_variant,p.Asp1137Gly,ENST00000441566,;DNAH8,missense_variant,p.Asp1354Gly,ENST00000449981,;SNORA8,upstream_gene_variant,,ENST00000391284,;							MODERATE	3410/13473	D1137G	DYH8_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000352312					1	
ESRRA	0	LGGM	GRCh37	11	64082353	64082353	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	18	18	.	.	ENST00000405666.1:c.712G>A	p.Val238Ile	p.V238I	ENST00000405666	NM_001282450.1	238	Gtc/Atc	0	1		UPI0000167B87	0	getma.org/pdb.php?prot=ERR1_HUMAN&from=223&to=414&var=V238I	ENST00000000442		ENSG00000173153	3471		36	1.485		HGNC	p.V238I		ESRRA		SNV							ENST00000405666	protein_coding	getma.org/?cm=var&var=hg19,11,64082353,G,A&fts=all		hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,PIRSF_domain:PIRSF500939,SMART_domains:SM00430,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508,Prints_domain:PR00398		V/I		A	low	883/2215		getma.org/?cm=msa&ty=f&p=ERR1_HUMAN&rb=223&re=414&var=V238I	tolerated(0.16)	Q96I02_HUMAN,Q96F89_HUMAN,Q569H8_HUMAN,F5H0E9_HUMAN,F5GWT5_HUMAN				ESRRA,missense_variant,p.Val238Ile,ENST00000405666,NM_001282450.1;ESRRA,missense_variant,p.Val237Ile,ENST00000406310,NM_004451.3,NM_001282451.1;ESRRA,missense_variant,p.Val238Ile,ENST00000000442,;ESRRA,missense_variant,p.Val95Ile,ENST00000539594,;ESRRA,intron_variant,,ENST00000545035,;TRMT112,downstream_gene_variant,,ENST00000544844,;PRDX5,upstream_gene_variant,,ENST00000265462,NM_012094.4;TRMT112,downstream_gene_variant,,ENST00000535750,;TRMT112,downstream_gene_variant,,ENST00000535126,;TRMT112,downstream_gene_variant,,ENST00000539854,;PRDX5,upstream_gene_variant,,ENST00000352435,NM_181651.2;TRMT112,downstream_gene_variant,,ENST00000308774,NM_016404.1,NM_001286082.1;PRDX5,upstream_gene_variant,,ENST00000347941,NM_181652.2;ESRRA,intron_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,;							MODERATE	712/1272	V238I	ERR1_HUMAN			Transcript		benign(0.027)	.	ENSP00000000442		CCDS41667.1			1	
HHLA1	0	LGGM	GRCh37	8	133099948	133099948	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	27	20	.	.	ENST00000434736.2:c.736del	p.Tyr246IlefsTer55	p.Y246Ifs*55	ENST00000434736		246	Tat/at	0	1		UPI000192B909	0		ENST00000414222		ENSG00000132297	4904		47			HGNC	p.Y210fs		HHLA1		deletion							ENST00000414222	protein_coding			hmmpanther:PTHR15299		Y/X		-		628/4105								HHLA1,frameshift_variant,p.Tyr210IlefsTer55,ENST00000414222,NM_001145095.1;HHLA1,frameshift_variant,p.Tyr246IlefsTer55,ENST00000434736,;OC90,upstream_gene_variant,,ENST00000262283,;							HIGH	628/1596		HHLA1_HUMAN			Transcript			.	ENSP00000388322					1	
PRR5L	0	LGGM	GRCh37	11	36440849	36440849	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	26	20	.	.	ENST00000378867.3:c.290T>C	p.Phe97Ser	p.F97S	ENST00000378867	NM_024841.4	97	tTt/tCt	0	1	1	UPI0000DBEF36	0	NA	ENST00000378867		ENSG00000135362	25878		46	1.935		HGNC	p.F71S		PRR5L		SNV							ENST00000311599	protein_coding	getma.org/?cm=var&var=hg19,11,36440849,T,C&fts=all		Pfam_domain:PF08539,hmmpanther:PTHR32428,hmmpanther:PTHR32428:SF3		F/S		C	medium	645/3930		getma.org/?cm=msa&ty=f&p=PRR5L_HUMAN&rb=45&re=177&var=F97S	deleterious(0)	E9PS02_HUMAN,E9PP62_HUMAN,E9PP25_HUMAN,E9PLJ6_HUMAN,E9PL62_HUMAN,E9PKK6_HUMAN,E9PJV4_HUMAN,E9PIU0_HUMAN			YES	PRR5L,missense_variant,p.Phe97Ser,ENST00000378867,NM_024841.4;PRR5L,missense_variant,p.Phe71Ser,ENST00000311599,NM_001160168.1;PRR5L,missense_variant,p.Phe97Ser,ENST00000530639,NM_001160167.1;PRR5L,missense_variant,p.Phe97Ser,ENST00000527487,NM_001160169.1;PRR5L,downstream_gene_variant,,ENST00000532121,;PRR5L,non_coding_transcript_exon_variant,,ENST00000389693,;PRR5L,intron_variant,,ENST00000529034,;							MODERATE	290/1107	F97S	PRR5L_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000368144		CCDS31463.1			1	
IL31RA	0	LGGM	GRCh37	5	55212479	55212479	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	46	21	.	.	ENST00000447346.2:c.1826T>C	p.Leu609Pro	p.L609P	ENST00000447346	NM_001242636.1	609	cTa/cCa	0	1	1	UPI00001A41DC	0	NA	ENST00000447346		ENSG00000164509	18969		67	1.95		HGNC	p.L590P		IL31RA		SNV			1				ENST00000396834	protein_coding	getma.org/?cm=var&var=hg19,5,55212479,T,C&fts=all		hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036		L/P		C	medium	1891/2577		getma.org/?cm=msa&ty=f&p=IL31R_HUMAN&rb=508&re=707&var=L577P	tolerated(0.13)				YES	IL31RA,missense_variant,p.Leu590Pro,ENST00000396834,NM_001242638.1;IL31RA,missense_variant,p.Leu609Pro,ENST00000447346,NM_001242636.1,NM_139017.5;IL31RA,missense_variant,p.Leu609Pro,ENST00000359040,NM_001242637.1;IL31RA,missense_variant,p.Leu467Pro,ENST00000490985,NM_001242639.1;IL31RA,missense_variant,p.Leu590Pro,ENST00000354961,;							MODERATE	1826/2295	L577P	IL31R_HUMAN			Transcript		benign(0.022)	.	ENSP00000415900		CCDS3970.2			1	
C12orf55	0	LGGM	GRCh37	12	97073402	97073402	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	70	23	.	.	ENST00000524981.4:c.5588T>C	p.Val1863Ala	p.V1863A	ENST00000524981		1863	gTc/gCc	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		93	1.955		HGNC	p.V1863A		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97073402,T,C&fts=all				V/A		C	medium	5611/9766		getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1780&re=1979&var=V1863A	deleterious(0.03)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Val1863Ala,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	5588/9291	V1863A				Transcript		benign(0.001)	.	ENSP00000431759					1	
IRGQ	0	LGGM	GRCh37	19	44097143	44097143	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	61	24	.	.	ENST00000422989.1:c.907G>A	p.Val303Ile	p.V303I	ENST00000422989	NM_001007561.2	303	Gtc/Atc	0	1	1	UPI000003FDB6	0	getma.org/pdb.php?prot=IRGQ_HUMAN&from=181&to=332&var=V303I	ENST00000422989		ENSG00000167378	24868		85	1.385		HGNC	p.V303I		IRGQ		SNV							ENST00000602269	protein_coding	getma.org/?cm=var&var=hg19,19,44097143,C,T&fts=all		PROSITE_profiles:PS51716,hmmpanther:PTHR19364,hmmpanther:PTHR19364:SF2		V/I		T	low	1063/9685		getma.org/?cm=msa&ty=f&p=IRGQ_HUMAN&rb=181&re=332&var=V303I	tolerated(0.49)	M0QZP8_HUMAN			YES	IRGQ,missense_variant,p.Val303Ile,ENST00000422989,NM_001007561.2;IRGQ,missense_variant,p.Val303Ile,ENST00000602269,;L34079.2,synonymous_variant,p.=,ENST00000594374,;SRRM5,upstream_gene_variant,,ENST00000526798,;SRRM5,upstream_gene_variant,,ENST00000607544,;ZNF576,upstream_gene_variant,,ENST00000336564,NM_001145347.1;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000391965,NM_024327.2;ZNF576,upstream_gene_variant,,ENST00000533118,;ZNF576,upstream_gene_variant,,ENST00000528387,;ZNF576,upstream_gene_variant,,ENST00000529930,;IRGQ,downstream_gene_variant,,ENST00000598324,;IRGQ,non_coding_transcript_exon_variant,,ENST00000601520,;IRGQ,upstream_gene_variant,,ENST00000596409,;ZNF576,upstream_gene_variant,,ENST00000595041,;							MODERATE	907/1872	V303I	IRGQ_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000387535		CCDS33040.1			1	
NALF1	0	LGGM	GRCh37	13	107862975	107862975	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	36	24	.	.	ENST00000375915.2:c.1044T>C	p.Asn348=	p.N348=	ENST00000375915	NM_001080396.2	348	aaT/aaC	0	1	1	UPI000045882C	0		ENST00000375915		ENSG00000204442	33877		60			HGNC	p.N348N		FAM155A		SNV							ENST00000375915	protein_coding			hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2		N		G		1183/3478							YES	FAM155A,synonymous_variant,p.=,ENST00000375915,NM_001080396.2;							LOW	1044/1377		F155A_HUMAN			Transcript			.	ENSP00000365080		CCDS32006.1			1	
PTPRB	0	LGGM	GRCh37	12	70990094	70990094	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	59	25	.	.	ENST00000334414.6:c.993T>C	p.Pro331=	p.P331=	ENST00000334414	NM_001109754.2	331	ccT/ccC	0	1		UPI00001FC788	0		ENST00000261266		ENSG00000127329	9665		84			HGNC	p.P331P		PTPRB		SNV							ENST00000334414	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		G		369/6110								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.=,ENST00000538708,NM_001206972.1;PTPRB,synonymous_variant,p.=,ENST00000550857,;PTPRB,synonymous_variant,p.=,ENST00000551525,;PTPRB,synonymous_variant,p.=,ENST00000548122,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;							LOW	339/5994		PTPRB_HUMAN			Transcript			.	ENSP00000261266		CCDS44944.1			1	
ASXL1	0	LGGM	GRCh37	20	30956897	30956897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	49	25	.	.	ENST00000375687.4:c.223C>T	p.Pro75Ser	p.P75S	ENST00000375687	NM_015338.5	75	Cct/Tct	0	1	1	UPI000036702C	0	NA	ENST00000375687		ENSG00000171456	18318		74	2.085		HGNC	p.P74S		ASXL1		SNV			1				ENST00000542461	protein_coding	getma.org/?cm=var&var=hg19,20,30956897,C,T&fts=all		Pfam_domain:PF05066,hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		P/S		T	medium	647/7031		getma.org/?cm=msa&ty=f&p=ASXL1_HUMAN&rb=1&re=200&var=P75S	deleterious(0)				YES	ASXL1,missense_variant,p.Pro75Ser,ENST00000375687,NM_015338.5;ASXL1,missense_variant,p.Pro70Ser,ENST00000306058,;ASXL1,missense_variant,p.Pro74Ser,ENST00000542461,;ASXL1,missense_variant,p.Pro71Ser,ENST00000375689,;ASXL1,missense_variant,p.Pro64Ser,ENST00000497249,;ASXL1,non_coding_transcript_exon_variant,,ENST00000470145,;ASXL1,non_coding_transcript_exon_variant,,ENST00000555343,;							MODERATE	223/4626	P75S	ASXL1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000364839		CCDS13201.1			1	
PGBD5	0	LGGM	GRCh37	1	230492938	230492938	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	27	27	.	.	ENST00000525115.1:c.254G>C	p.Gly85Ala	p.G85A	ENST00000525115		85	gGg/gCg	0	1	1	UPI0001D34147	0	NA	ENST00000525115		ENSG00000177614	19405		54	0.805		HGNC	p.G184A		PGBD5		SNV							ENST00000321327	protein_coding	getma.org/?cm=var&var=hg19,1,230492938,C,G&fts=all		Pfam_domain:PF13843		G/A		G	low	278/1569		getma.org/?cm=msa&ty=f&p=PGBD5_HUMAN&rb=52&re=418&var=G85A	tolerated(0.13)				YES	PGBD5,missense_variant,p.Gly184Ala,ENST00000321327,;PGBD5,missense_variant,p.Gly39Ala,ENST00000391860,NM_001258311.1;PGBD5,missense_variant,p.Gly85Ala,ENST00000525115,;							MODERATE	254/1368	G85A	PGBD5_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000431404					1	
ERBB2IP	0	LGGM	GRCh37	5	65288607	65288607	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	48	28	.	.	ENST00000506030.1:c.61G>T	p.Glu21Ter	p.E21*	ENST00000506030		21	Gag/Tag	0	1		UPI000013C941	0	NA	ENST00000284037		ENSG00000112851	15842		76	0		HGNC	p.E21X		ERBB2IP		SNV							ENST00000380939	protein_coding	getma.org/?cm=var&var=hg19,5,65288607,G,T&fts=all		hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF421		E/*		T	NA	450/8647		NA						ERBB2IP,stop_gained,p.Glu21Ter,ENST00000284037,NM_001253697.1;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000380939,;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000380936,;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000380935,NM_001006600.2;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000380943,NM_001253699.1,NM_001253701.1,NM_018695.3;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000380938,NM_001253698.1;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000506030,;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000508515,;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000511297,;ERBB2IP,stop_gained,p.Glu21Ter,ENST00000416865,;							HIGH	61/4239	E21*	LAP2_HUMAN			Transcript			.	ENSP00000284037		CCDS58953.1			1	
KIAA0586	0	LGGM	GRCh37	14	58941332	58941332	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	52	29	.	.	ENST00000354386.6:c.2801A>T	p.Glu934Val	p.E934V	ENST00000354386	NM_001244189.1	934	gAa/gTa	0	1	1	UPI0001AE6998	0	NA	ENST00000354386		ENSG00000100578	19960		81	2.32		HGNC	p.E866V		KIAA0586		SNV							ENST00000556134	protein_coding	getma.org/?cm=var&var=hg19,14,58941332,A,T&fts=all		Pfam_domain:PF15324,hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2		E/V		T	medium	3045/5226		getma.org/?cm=msa&ty=f&p=F5GWA3_HUMAN&rb=601&re=800&var=E741V	deleterious(0.02)				YES	KIAA0586,missense_variant,p.Glu837Val,ENST00000423743,NM_001244192.1,NM_001244191.1;KIAA0586,missense_variant,p.Glu934Val,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Glu866Val,ENST00000556134,NM_001244190.1,NM_001244193.1;KIAA0586,missense_variant,p.Glu805Val,ENST00000261244,NM_014749.3;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;							MODERATE	2801/4935	E741V	TALD3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000346359		CCDS58320.1			1	
KIAA0586	0	LGGM	GRCh37	14	58941331	58941331	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	52	29	.	.	ENST00000354386.6:c.2800G>T	p.Glu934Ter	p.E934*	ENST00000354386	NM_001244189.1	934	Gaa/Taa	0	1	1	UPI0001AE6998	0	NA	ENST00000354386		ENSG00000100578	19960		81	0		HGNC	p.E866X		KIAA0586		SNV							ENST00000556134	protein_coding	getma.org/?cm=var&var=hg19,14,58941331,G,T&fts=all		Pfam_domain:PF15324,hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2		E/*		T	NA	3044/5226		NA					YES	KIAA0586,stop_gained,p.Glu837Ter,ENST00000423743,NM_001244192.1,NM_001244191.1;KIAA0586,stop_gained,p.Glu934Ter,ENST00000354386,NM_001244189.1;KIAA0586,stop_gained,p.Glu866Ter,ENST00000556134,NM_001244190.1,NM_001244193.1;KIAA0586,stop_gained,p.Glu805Ter,ENST00000261244,NM_014749.3;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;							HIGH	2800/4935	E741*	TALD3_HUMAN			Transcript			.	ENSP00000346359		CCDS58320.1			1	
SRCAP	0	LGGM	GRCh37	16	30724619	30724619	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	29	29	.	.	ENST00000262518.4:c.2221C>G	p.Arg741Gly	p.R741G	ENST00000262518	NM_006662.2	741	Cgc/Ggc	0	1	1	UPI000059D368	0	getma.org/pdb.php?prot=SRCAP_HUMAN&from=621&to=907&var=R741G	ENST00000262518		ENSG00000080603	16974		58	0.195		HGNC	p.R741G		SRCAP		SNV			1				ENST00000262518	protein_coding	getma.org/?cm=var&var=hg19,16,30724619,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540		R/G		G	neutral	2606/10474		getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=621&re=907&var=R741G		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,missense_variant,p.Arg741Gly,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Arg741Gly,ENST00000395059,;SRCAP,missense_variant,p.Arg741Gly,ENST00000344771,;SNORA30,downstream_gene_variant,,ENST00000384028,NR_002966.1;SRCAP,missense_variant,p.Arg722Gly,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;							MODERATE	2221/9693	R741G	SRCAP_HUMAN			Transcript		unknown(0)	.	ENSP00000262518		CCDS10689.2			1	
ARID2	0	LGGM	GRCh37	12	46231398	46231398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	56	29	.	.	ENST00000334344.6:c.1238T>A	p.Leu413Gln	p.L413Q	ENST00000334344	NM_152641.2	413	cTg/cAg	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		85	0.895		HGNC	p.L264Q		ARID2		SNV							ENST00000422737	protein_coding	getma.org/?cm=var&var=hg19,12,46231398,T,A&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14,Superfamily_domains:SSF48371		L/Q		A	low	1410/8642		getma.org/?cm=msa&ty=f&p=ARID2_HUMAN&rb=302&re=501&var=L413Q	tolerated(0.11)	Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,missense_variant,p.Leu413Gln,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Leu42Gln,ENST00000444670,;ARID2,missense_variant,p.Leu264Gln,ENST00000422737,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,non_coding_transcript_exon_variant,,ENST00000480128,;							MODERATE	1238/5508	L413Q	ARID2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000335044		CCDS31783.1			1	
TTN	0	LGGM	GRCh37	2	179599438	179599438	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	213	30	.	.	ENST00000589042.1:c.15213C>T	p.Ile5071=	p.I5071=	ENST00000589042	NM_001267550.1	5071	atC/atT	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		243			HGNC	p.I5071I		TTN		SNV			1				ENST00000589042	protein_coding			Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		I		A		14487/104301				C9JQJ2_HUMAN				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,intron_variant,,ENST00000582847,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,upstream_gene_variant,,ENST00000590773,;							LOW	14262/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GRIA1	0	LGGM	GRCh37	5	153026600	153026600	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	47	31	.	.	ENST00000518783.1:c.363G>T	p.Pro121=	p.P121=	ENST00000518783	NM_001258021.1	121	ccG/ccT	0	1		UPI000013DE17	0		ENST00000285900		ENSG00000155511	4571		78			HGNC	p.P42P		GRIA1		SNV							ENST00000521843	protein_coding			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,Superfamily_domains:SSF53822		P		T		676/5708								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,intron_variant,,ENST00000518142,;GRIA1,non_coding_transcript_exon_variant,,ENST00000518862,;GRIA1,non_coding_transcript_exon_variant,,ENST00000520966,;GRIA1,non_coding_transcript_exon_variant,,ENST00000481559,;							LOW	333/2721		GRIA1_HUMAN			Transcript			.	ENSP00000285900		CCDS4322.1			1	
LAMC1	0	LGGM	GRCh37	1	183109584	183109584	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	48	32	.	.	ENST00000258341.4:c.4519A>G	p.Lys1507Glu	p.K1507E	ENST00000258341	NM_002293.3	1507	Aaa/Gaa	0	1	1	UPI000013CFC7	0	NA	ENST00000258341		ENSG00000135862	6492		80	0.895		HGNC	p.K1507E		LAMC1		SNV							ENST00000258341	protein_coding	getma.org/?cm=var&var=hg19,1,183109584,A,G&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF228,Superfamily_domains:SSF57997		K/E		G	low	4776/7889		getma.org/?cm=msa&ty=f&p=LAMC1_HUMAN&rb=1464&re=1512&var=K1507E	deleterious(0.02)	R4GNC7_HUMAN			YES	LAMC1,missense_variant,p.Lys1507Glu,ENST00000258341,NM_002293.3;RP11-181K3.4,intron_variant,,ENST00000457852,;LAMC1,downstream_gene_variant,,ENST00000495918,;							MODERATE	4519/4830	K1507E	LAMC1_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000258341		CCDS1351.1			1	
USP1	0	LGGM	GRCh37	1	62910508	62910508	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	47	33	.	.	ENST00000339950.4:c.657A>G	p.Lys219=	p.K219=	ENST00000339950	NM_003368.4	219	aaA/aaG	0	1	1	UPI00001379D4	0		ENST00000339950		ENSG00000162607	12607		80			HGNC	p.K219K		USP1		SNV							ENST00000371146	protein_coding			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF378		K		G		1472/3996				C9JWX4_HUMAN,C9JC88_HUMAN			YES	USP1,synonymous_variant,p.=,ENST00000339950,NM_003368.4;USP1,synonymous_variant,p.=,ENST00000371146,NM_001017415.1,NM_001017416.1;USP1,downstream_gene_variant,,ENST00000452143,;USP1,downstream_gene_variant,,ENST00000442679,;							LOW	657/2358		UBP1_HUMAN			Transcript			.	ENSP00000343526		CCDS621.1			1	
ANO4	0	LGGM	GRCh37	12	101295495	101295495	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	71	34	.	.	ENST00000392979.3:c.-69C>A		*23*	ENST00000392979	NM_178826.3			0	1		UPI0000577AB6	0		ENST00000392977		ENSG00000151572	23837		105			HGNC	p.P144T		ANO4		SNV							ENST00000538618	protein_coding							A		142/3509								ANO4,missense_variant,p.Pro144Thr,ENST00000538618,;ANO4,5_prime_UTR_variant,,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,5_prime_UTR_variant,,ENST00000392977,NM_001286615.1;ANO4,5_prime_UTR_variant,,ENST00000299222,;ANO4,5_prime_UTR_variant,,ENST00000546991,;ANO4,downstream_gene_variant,,ENST00000551148,;ANO4,5_prime_UTR_variant,,ENST00000549155,;							MODIFIER	-/2868		ANO4_HUMAN			Transcript			.	ENSP00000376703		CCDS66445.1			1	
LIMCH1	0	LGGM	GRCh37	4	41664868	41664868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	33	36	.	.	ENST00000313860.7:c.2003G>T	p.Arg668Leu	p.R668L	ENST00000313860	NM_014988.2	668	cGa/cTa	0	1	1	UPI0000D61554	0	NA	ENST00000313860		ENSG00000064042	29191		69	1.78		HGNC	p.R502L		LIMCH1		SNV							ENST00000381753	protein_coding	getma.org/?cm=var&var=hg19,4,41664868,G,T&fts=all		hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3		R/L		T	low	2057/6165		getma.org/?cm=msa&ty=f&p=LIMC1_HUMAN&rb=304&re=994&var=R668L	tolerated(0.32)	D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN			YES	LIMCH1,missense_variant,p.Arg668Leu,ENST00000313860,NM_014988.2;LIMCH1,missense_variant,p.Arg514Leu,ENST00000396595,NM_001112719.1;LIMCH1,missense_variant,p.Arg502Leu,ENST00000381753,NM_001112720.1;LIMCH1,missense_variant,p.Arg1053Leu,ENST00000503057,;LIMCH1,missense_variant,p.Arg497Leu,ENST00000513024,;LIMCH1,missense_variant,p.Arg656Leu,ENST00000512820,;LIMCH1,missense_variant,p.Arg668Leu,ENST00000512946,NM_001112717.1;LIMCH1,missense_variant,p.Arg668Leu,ENST00000508501,NM_001112718.1;LIMCH1,missense_variant,p.Arg668Leu,ENST00000512632,;LIMCH1,missense_variant,p.Arg509Leu,ENST00000514096,;LIMCH1,missense_variant,p.Arg502Leu,ENST00000509277,;LIMCH1,missense_variant,p.Arg509Leu,ENST00000511496,;LIMCH1,missense_variant,p.Arg503Leu,ENST00000508466,;							MODERATE	2003/3252	R668L	LIMC1_HUMAN			Transcript		benign(0.424)	.	ENSP00000316891		CCDS33977.1			1	
PDE1C	0	LGGM	GRCh37	7	31793166	31793166	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H072056	H072056N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	54	37	.	.	ENST00000396193.1:c.2142C>T	p.Val714=	p.V714=	ENST00000396193	NM_001191058.1	714	gtC/gtT	0	1		UPI0000127BE9	0		ENST00000321453		ENSG00000154678	8776		91			HGNC	p.V654V		PDE1C		SNV							ENST00000321453	protein_coding					V		A		2422/2898				Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,splice_region_variant,p.=,ENST00000396193,NM_001191058.1;PDE1C,splice_region_variant,p.=,ENST00000396191,NM_001191057.1;PDE1C,splice_region_variant,p.=,ENST00000321453,NM_001191059.1;							LOW	1962/2130		PDE1C_HUMAN			Transcript			.	ENSP00000318105		CCDS55099.1			1	
CEP89	0	LGGM	GRCh37	19	33444653	33444653	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	81	37	.	.	ENST00000305768.5:c.360A>G	p.Thr120=	p.T120=	ENST00000305768	NM_032816.3	120	acA/acG	0	1	1	UPI000020202C	0		ENST00000305768		ENSG00000121289	25907		118			HGNC	p.T120T		CEP89		SNV			1				ENST00000586984	protein_coding					T		C		449/2607							YES	CEP89,synonymous_variant,p.=,ENST00000305768,NM_032816.3;CEP89,synonymous_variant,p.=,ENST00000590597,;CEP89,synonymous_variant,p.=,ENST00000593276,;CEP89,synonymous_variant,p.=,ENST00000586984,;CEP89,synonymous_variant,p.=,ENST00000591698,;							LOW	360/2352		CEP89_HUMAN			Transcript			.	ENSP00000306105		CCDS32987.1			1	
LYST	0	LGGM	GRCh37	1	235955263	235955263	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	102	42	.	.	ENST00000389794.3:c.4279A>T	p.Arg1427Ter	p.R1427*	ENST00000389794		1427	Aga/Tga	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		144	0		HGNC	p.R1427X		LYST		SNV			1				ENST00000389794	protein_coding	getma.org/?cm=var&var=hg19,1,235955263,T,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60		R/*		A	NA	4454/13471		NA						LYST,stop_gained,p.Arg1427Ter,ENST00000389794,;LYST,stop_gained,p.Arg1427Ter,ENST00000389793,NM_000081.3;LYST,intron_variant,,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;LYST,upstream_gene_variant,,ENST00000492844,;							HIGH	4279/11406	R1427*	LYST_HUMAN			Transcript			.	ENSP00000374443		CCDS31062.1			1	
PRRX1	0	LGGM	GRCh37	1	170699450	170699450	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	122	44	.	.	ENST00000239461.6:c.599+3908A>T		*200*	ENST00000239461	NM_022716.2			0	1	1	UPI0000131D11	0		ENST00000239461		ENSG00000116132	9142		166			HGNC	p.E211V		PRRX1		SNV			1				ENST00000367760	protein_coding							T		-/4284							YES	PRRX1,missense_variant,p.Glu211Val,ENST00000367760,NM_006902.3;PRRX1,intron_variant,,ENST00000239461,NM_022716.2;PRRX1,downstream_gene_variant,,ENST00000497230,;PRRX1,non_coding_transcript_exon_variant,,ENST00000495280,;PRRX1,non_coding_transcript_exon_variant,,ENST00000485529,;PRRX1,intron_variant,,ENST00000476867,;PRRX1,upstream_gene_variant,,ENST00000496573,;							MODIFIER	-/738		PRRX1_HUMAN			Transcript			.	ENSP00000239461		CCDS1290.1			1	
ARNT2	0	LGGM	GRCh37	15	80806682	80806682	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	153	46	.	.	ENST00000303329.4:c.813A>T	p.Lys271Asn	p.K271N	ENST00000303329	NM_014862.3	271	aaA/aaT	0	1	1	UPI00001FEA05	0	NA	ENST00000303329		ENSG00000172379	16876		199	1.965		HGNC	p.K260N		ARNT2		SNV			1				ENST00000527771	protein_coding	getma.org/?cm=var&var=hg19,15,80806682,A,T&fts=all		Superfamily_domains:SSF55785,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF6		K/N		T	medium	978/6558		getma.org/?cm=msa&ty=f&p=ARNT2_HUMAN&rb=245&re=346&var=K271N	deleterious(0.02)	H0YKW1_HUMAN			YES	ARNT2,missense_variant,p.Lys260Asn,ENST00000533983,;ARNT2,missense_variant,p.Lys271Asn,ENST00000303329,NM_014862.3;ARNT2,missense_variant,p.Lys260Asn,ENST00000527771,;ARNT2,missense_variant,p.Lys45Asn,ENST00000525103,;							MODERATE	813/2154	K271N	ARNT2_HUMAN			Transcript		benign(0.403)	.	ENSP00000307479		CCDS32307.1			1	
STK38	0	LGGM	GRCh37	6	36492184	36492184	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	57	53	.	.	ENST00000229812.7:c.240G>A	p.Lys80=	p.K80=	ENST00000229812	NM_007271.2	80	aaG/aaA	0	1	1	UPI0000047AC1	0		ENST00000229812		ENSG00000112079	17847		110			HGNC	p.K80K		STK38		SNV							ENST00000229812	protein_coding			hmmpanther:PTHR24358:SF7,hmmpanther:PTHR24358,Gene3D:3.30.200.20,Superfamily_domains:SSF56112		K		T		526/3576							YES	STK38,synonymous_variant,p.=,ENST00000229812,NM_007271.2;RN7SL748P,downstream_gene_variant,,ENST00000483066,;							LOW	240/1398		STK38_HUMAN			Transcript			.	ENSP00000229812		CCDS4822.1			1	
TMX1	0	LGGM	GRCh37	14	51716186	51716186	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072056	H072056N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	131	57	.	.	ENST00000457354.2:c.490A>G	p.Thr164Ala	p.T164A	ENST00000457354	NM_030755.4	164	Act/Gct	0	1	1	UPI0000048EB4	0	NA	ENST00000457354		ENSG00000139921	15487		188	1.245		HGNC	p.T164A		TMX1		SNV							ENST00000457354	protein_coding	getma.org/?cm=var&var=hg19,14,51716186,A,G&fts=all		hmmpanther:PTHR18929:SF67,hmmpanther:PTHR18929		T/A		G	low	615/2490		getma.org/?cm=msa&ty=f&p=TMX1_HUMAN&rb=131&re=280&var=T164A	tolerated(0.77)				YES	TMX1,missense_variant,p.Thr164Ala,ENST00000457354,NM_030755.4;Y_RNA,downstream_gene_variant,,ENST00000364950,;TMX1,splice_region_variant,,ENST00000556683,;TMX1,downstream_gene_variant,,ENST00000555574,;							MODERATE	490/843	T164A	TMX1_HUMAN			Transcript		benign(0.002)	.	ENSP00000393316		CCDS41953.1			1	
ZBTB44	0	LGGM	GRCh37	11	130106845	130106845	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H072056	H072056N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	58	64	.	.	ENST00000525842.1:c.1351+60A>G		*451*	ENST00000525842	NM_014155.4			0	1		UPI00001AED95	0		ENST00000357899		ENSG00000196323	25001		122			HGNC	p.K471E	rs765480242	ZBTB44		SNV				0.000118			ENST00000357899	protein_coding			Pfam_domain:PF13894,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF10,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/E		C		1684/2781			deleterious(0.04)	H7BY22_HUMAN				ZBTB44,missense_variant,p.Lys471Glu,ENST00000397753,;ZBTB44,missense_variant,p.Lys450Glu,ENST00000527478,;ZBTB44,missense_variant,p.Lys471Glu,ENST00000357899,;ZBTB44,intron_variant,,ENST00000525842,NM_014155.4;ZBTB44,intron_variant,,ENST00000529982,;ZBTB44,intron_variant,,ENST00000530205,;ZBTB44,downstream_gene_variant,,ENST00000528448,;ZBTB44,non_coding_transcript_exon_variant,,ENST00000525623,;ZBTB44,intron_variant,,ENST00000445008,;ZBTB44,downstream_gene_variant,,ENST00000529348,;							MODERATE	1411/1713					Transcript		probably_damaging(0.979)	.	ENSP00000350574	8.27E-06				1	
MUC16	0	LGGM	GRCh37	19	9020010	9020010	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072056	H072056N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072056N.bam, H072056T.bam	Illumina HiSeq	115	97	.	.	ENST00000397910.4:c.37485G>T	p.Leu12495=	p.L12495=	ENST00000397910	NM_024690.2	12495	ctG/ctT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		212			HGNC	p.L12495L		MUC16		SNV							ENST00000397910	protein_coding			Superfamily_domains:0047452,Gene3D:1ivzA00,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		L		A		37689/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	37485/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
KLHL26	0	LGGM	GRCh37	19	18779754	18779754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	20	3	.	.	ENST00000300976.4:c.1547G>A	p.Arg516His	p.R516H	ENST00000300976	NM_018316.1	516	cGc/cAc	0	1	1	UPI0000071AC2	0	getma.org/pdb.php?prot=KLH26_HUMAN&from=499&to=549&var=R516H	ENST00000300976		ENSG00000167487	25623		23	0.575		HGNC	p.R516H		KLHL26		SNV							ENST00000300976	protein_coding	getma.org/?cm=var&var=hg19,19,18779754,G,A&fts=all		hmmpanther:PTHR24412:SF56,hmmpanther:PTHR24412,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715		R/H		A	neutral	1637/3192		getma.org/?cm=msa&ty=f&p=KLH26_HUMAN&rb=499&re=549&var=R516H	tolerated(0.07)				YES	KLHL26,missense_variant,p.Arg516His,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,;							MODERATE	1547/1848	R516H	KLH26_HUMAN			Transcript		benign(0.391)	.	ENSP00000300976		CCDS12384.1			1	
SLC34A2	0	LGGM	GRCh37	4	25674854	25674854	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	38	3	.	.	ENST00000382051.3:c.1194C>A	p.Val398=	p.V398=	ENST00000382051	NM_006424.2	398	gtC/gtA	0	1	1	UPI000013DF24	0		ENST00000382051		ENSG00000157765	11020		41			HGNC	p.V397V		SLC34A2		SNV			1				ENST00000504570	protein_coding			TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23		V		A		1244/4122				D6RBC0_HUMAN			YES	SLC34A2,synonymous_variant,p.=,ENST00000382051,NM_006424.2,NM_001177998.1;SLC34A2,synonymous_variant,p.=,ENST00000503434,NM_001177999.1;SLC34A2,synonymous_variant,p.=,ENST00000504570,;SLC34A2,downstream_gene_variant,,ENST00000510033,;							LOW	1194/2073		NPT2B_HUMAN			Transcript			.	ENSP00000371483		CCDS3435.1			1	
IGHV4-31	0	LGGM	GRCh37	14	106805636	106805636	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	22	3	.	.	ENST00000438142.2:c.9C>T	p.His3=	p.H3=	ENST00000438142		3	caC/caT	0	1	1	UPI000011AAD2	0		ENST00000438142		ENSG00000231475	5649	0.00268	25			HGNC	p.H3H	rs371293120	IGHV4-31	0.00221	SNV	A:0.0369			0.0361			ENST00000438142	IG_V_gene		A:0.2746	Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF86		H	A:0.0025	A		81/426	0.00171				A:0.0274	A:0.0079	YES	IGHV4-31,synonymous_variant,p.=,ENST00000438142,;IGHV3-30-2,upstream_gene_variant,,ENST00000517460,;IGHVII-31-1,downstream_gene_variant,,ENST00000521012,;	0.00949	A:0.0831					LOW	9/354			0.000636	A:0.0179	Transcript			common_variant	ENSP00000395656	0.00649		0.00741	A:0.0082	1	
COL6A3	0	LGGM	GRCh37	2	238290080	238290080	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	38	3	.	.	ENST00000295550.4:c.1375G>A	p.Ala459Thr	p.A459T	ENST00000295550	NM_004369.3	459	Gcc/Acc	0	1	1	UPI0000456F39	0	getma.org/pdb.php?prot=CO6A3_HUMAN&from=445&to=616&var=A459T	ENST00000295550		ENSG00000163359	2213		41	1.675		HGNC	p.A459T	rs749030290	COL6A3		SNV			1				ENST00000346358	protein_coding	getma.org/?cm=var&var=hg19,2,238290080,C,T&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300		A/T		T	low	1828/10749	3.10E-05	getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=445&re=616&var=A459T		Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	COL6A3,missense_variant,p.Ala459Thr,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Ala258Thr,ENST00000347401,;COL6A3,missense_variant,p.Ala253Thr,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Ala459Thr,ENST00000346358,;COL6A3,missense_variant,p.Ala253Thr,ENST00000409809,;COL6A3,missense_variant,p.Ala52Thr,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Ala253Thr,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Ala52Thr,ENST00000392003,NM_057164.4;COL6A3,missense_variant,p.Ala459Thr,ENST00000433762,;							MODERATE	1375/9534	A459T	CO6A3_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000295550	1.65E-05	CCDS33412.1			1	
ENPP6	0	LGGM	GRCh37	4	185038032	185038032	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	29	3	.	.	ENST00000296741.2:c.832C>T	p.Pro278Ser	p.P278S	ENST00000296741	NM_153343.3	278	Ccg/Tcg	0	1	1	UPI0000073C89	0	getma.org/pdb.php?prot=ENPP6_HUMAN&from=26&to=357&var=P278S	ENST00000296741		ENSG00000164303	23409		32	3.165		HGNC	p.P278S	COSM379972	ENPP6		SNV						1	ENST00000296741	protein_coding	getma.org/?cm=var&var=hg19,4,185038032,G,A&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF66,Superfamily_domains:SSF53649		P/S		A	medium	974/3936		getma.org/?cm=msa&ty=f&p=ENPP6_HUMAN&rb=26&re=357&var=P278S	deleterious(0)	D6R9P1_HUMAN			YES	ENPP6,missense_variant,p.Pro278Ser,ENST00000296741,NM_153343.3;ENPP6,missense_variant,p.Pro190Ser,ENST00000512353,;ENPP6,non_coding_transcript_exon_variant,,ENST00000510054,;					1		MODERATE	832/1323	P278S	ENPP6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296741		CCDS3834.1			1	
CLDN9	0	LGGM	GRCh37	16	3063473	3063473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	25	3	.	.	ENST00000445369.2:c.110G>A	p.Gly37Asp	p.G37D	ENST00000445369	NM_020982.3	37	gGc/gAc	0	1	1	UPI0000035DA5	0	NA	ENST00000445369		ENSG00000213937	2051		28	2.775		HGNC	p.G37D	rs746271447,COSM178542	CLDN9	6.06E-05	SNV						0,1	ENST00000445369	protein_coding	getma.org/?cm=var&var=hg19,16,3063473,G,A&fts=all		Pfam_domain:PF00822,Prints_domain:PR01382,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF42		G/D		A	medium	1017/2050		getma.org/?cm=msa&ty=f&p=CLD9_HUMAN&rb=4&re=181&var=G37D	tolerated(0.11)				YES	CLDN9,missense_variant,p.Gly37Asp,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,;					0,1		MODERATE	110/654	G37D	CLD9_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000398017	8.24E-06	CCDS10487.1			1	
PCGF2	0	LGGM	GRCh37	17	36895353	36895353	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	32	3	.	.	ENST00000580830.1:c.284G>T	p.Arg95Leu	p.R95L	ENST00000580830		95	cGg/cTg	0	1	1	UPI0000001279	0	getma.org/pdb.php?prot=PCGF2_HUMAN&from=57&to=256&var=R95L	ENST00000580830		ENSG00000056661	12929		35	2.89		HGNC	p.R95L		PCGF2		SNV			1				ENST00000579882	protein_coding	getma.org/?cm=var&var=hg19,17,36895353,C,A&fts=all		hmmpanther:PTHR10825:SF22,hmmpanther:PTHR10825,Gene3D:3.30.40.10		R/L		A	medium	986/3062		getma.org/?cm=msa&ty=f&p=PCGF2_HUMAN&rb=57&re=256&var=R95L	deleterious(0.01)				YES	PCGF2,missense_variant,p.Arg95Leu,ENST00000580830,;PCGF2,missense_variant,p.Arg95Leu,ENST00000360797,NM_007144.2;PCGF2,missense_variant,p.Arg95Leu,ENST00000581345,;PCGF2,missense_variant,p.Arg95Leu,ENST00000579882,;PCGF2,missense_variant,p.Arg95Leu,ENST00000585100,;PCGF2,missense_variant,p.Arg41Leu,ENST00000578109,;CISD3,downstream_gene_variant,,ENST00000439660,NM_001136498.1;PCGF2,upstream_gene_variant,,ENST00000578487,;CISD3,downstream_gene_variant,,ENST00000578573,;							MODERATE	284/1035	R95L	PCGF2_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000461961		CCDS32638.1			1	
SYNE2	0	LGGM	GRCh37	14	64537396	64537396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	45	3	.	.	ENST00000358025.3:c.10465C>A	p.Gln3489Lys	p.Q3489K	ENST00000358025	NM_182914.2	3489	Cag/Aag	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		48	1.04		HGNC	p.Q3522K		SYNE2		SNV			1				ENST00000554584	protein_coding	getma.org/?cm=var&var=hg19,14,64537396,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		Q/K		A	low	10677/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=2327&re=3682&var=Q3489K		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Gln3489Lys,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Gln3489Lys,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Gln3522Lys,ENST00000554584,;SYNE2,missense_variant,p.Gln123Lys,ENST00000555002,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,upstream_gene_variant,,ENST00000394768,;SYNE2,upstream_gene_variant,,ENST00000557060,;							MODERATE	10465/20658	Q3489K	SYNE2_HUMAN			Transcript		possibly_damaging(0.579)	.	ENSP00000341781		CCDS41963.1			1	
ARHGEF5	0	LGGM	GRCh37	7	144061163	144061163	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	17	3	.	.	ENST00000056217.5:c.1401C>A	p.Gly467=	p.G467=	ENST00000056217	NM_005435.3	467	ggC/ggA	0	1	1	UPI00004028DC	0		ENST00000056217		ENSG00000050327	13209		20			HGNC	p.G467G		ARHGEF5		SNV							ENST00000056217	protein_coding			hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Pfam_domain:PF15441		G		A		1575/5544				H9XFB6_HUMAN			YES	ARHGEF5,synonymous_variant,p.=,ENST00000056217,NM_005435.3;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000474817,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;							LOW	1401/4794		ARHG5_HUMAN			Transcript			.	ENSP00000056217		CCDS34771.1			1	
ZNF536	0	LGGM	GRCh37	19	30936377	30936377	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	70	4	.	.	ENST00000355537.3:c.1908C>T	p.Cys636=	p.C636=	ENST00000355537	NM_014717.1	636	tgC/tgT	0	1	1	UPI000006ED3E	0		ENST00000355537		ENSG00000198597	29025		74			HGNC	p.C636C	rs763902544,COSM4076616	ZNF536		SNV						0,1	ENST00000355537	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C		T		2055/4945	3.01E-05			K7EKT4_HUMAN,K7EJP8_HUMAN			YES	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,synonymous_variant,p.=,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;					0,1		LOW	1908/3903		ZN536_HUMAN			Transcript			.	ENSP00000347730	1.65E-05	CCDS32984.1			1	
PKHD1	0	LGGM	GRCh37	6	51484232	51484232	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	56	4	.	.	ENST00000371117.3:c.11872C>A	p.His3958Asn	p.H3958N	ENST00000371117	NM_138694.3	3958	Cac/Aac	0	1	1	UPI000013C4C0	0	NA	ENST00000371117		ENSG00000170927	9016		60	0.69		HGNC	p.H3958N		PKHD1		SNV			1				ENST00000371117	protein_coding	getma.org/?cm=var&var=hg19,6,51484232,G,T&fts=all				H/N		T	neutral	12148/16282		getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=3855&re=4072&var=H3958N	tolerated_low_confidence(0.47)				YES	PKHD1,missense_variant,p.His3958Asn,ENST00000371117,NM_138694.3;RP3-335N17.2,intron_variant,,ENST00000589278,;RP3-335N17.2,intron_variant,,ENST00000454361,;RP3-335N17.2,upstream_gene_variant,,ENST00000587000,;							MODERATE	11872/12225	H3958N	PKHD1_HUMAN			Transcript		benign(0.048)	.	ENSP00000360158		CCDS4935.1			1	
ZNF506	0	LGGM	GRCh37	19	19905660	19905660	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	63	4	.	.	ENST00000443905.2:c.1036T>C	p.Cys346Arg	p.C346R	ENST00000443905		346	Tgt/Cgt	0	1	1	UPI00001B6472	0	getma.org/pdb.php?prot=ZN506_HUMAN&from=327&to=352&var=C346R	ENST00000443905		ENSG00000081665	23780		67	4.295		HGNC	p.C314R		ZNF506		SNV							ENST00000450683	protein_coding	getma.org/?cm=var&var=hg19,19,19905660,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF82,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/R		G	high	1184/2875		getma.org/?cm=msa&ty=f&p=ZN506_HUMAN&rb=307&re=372&var=C346R	deleterious(0)	K7ERD0_HUMAN			YES	ZNF506,missense_variant,p.Cys346Arg,ENST00000443905,;ZNF506,missense_variant,p.Cys346Arg,ENST00000540806,;ZNF506,missense_variant,p.Cys314Arg,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.Cys346Arg,ENST00000591639,;ZNF506,intron_variant,,ENST00000586260,;ZNF506,downstream_gene_variant,,ENST00000587822,;							MODERATE	1036/1335	C346R	ZN506_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000393835		CCDS42531.1			1	
AC079354.1	0	LGGM	GRCh37	2	203051791	203051791	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072059	H072059N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	28	4	.	.	ENST00000498697.1:c.1095T>C	p.Phe365=	p.F365=	ENST00000498697		365	ttT/ttC	0	1	1	UPI0001B798AC	0		ENST00000498697		ENSG00000182329			32			Clone_based_vega_gene	p.F365F		AC079354.1		SNV							ENST00000498697	protein_coding			hmmpanther:PTHR21937		F		C		1095/1925				H7C5G6_HUMAN				AC079354.1,synonymous_variant,p.=,ENST00000498697,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000469462,;							LOW	1095/1925					Transcript			.	ENSP00000419834					1	
ZXDA	0	LGGM	GRCh37	X	57935114	57935114	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	71	4	.	.	ENST00000358697.4:c.1741G>T	p.Ala581Ser	p.A581S	ENST00000358697	NM_007156.4	581	Gca/Tca	0	1	1	UPI000013C494	0	NA	ENST00000358697		ENSG00000198205	13198		75	1.155		HGNC	p.A581S		ZXDA		SNV							ENST00000358697	protein_coding	getma.org/?cm=var&var=hg19,X,57935114,C,A&fts=all		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72		A/S		A	low	1954/5204		getma.org/?cm=msa&ty=f&p=ZXDA_HUMAN&rb=569&re=768&var=A581S	tolerated(0.24)				YES	ZXDA,missense_variant,p.Ala581Ser,ENST00000358697,NM_007156.4;							MODERATE	1741/2400	A581S	ZXDA_HUMAN			Transcript		benign(0.018)	.	ENSP00000351530		CCDS14376.1			1	
CEP104	0	LGGM	GRCh37	1	3764176	3764176	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	66	5	.	.	ENST00000378230.3:c.289T>C	p.Tyr97His	p.Y97H	ENST00000378230	NM_014704.3	97	Tac/Cac	0	1	1	UPI0000139AA8	0	NA	ENST00000378230		ENSG00000116198	24866		71	1.59		HGNC	p.Y97H		CEP104		SNV							ENST00000378223	protein_coding	getma.org/?cm=var&var=hg19,1,3764176,A,G&fts=all		hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371,Superfamily_domains:SSF49785		Y/H		G	low	614/6424		getma.org/?cm=msa&ty=f&p=CE104_HUMAN&rb=1&re=200&var=Y97H	deleterious(0)				YES	CEP104,missense_variant,p.Tyr97His,ENST00000378230,NM_014704.3;CEP104,missense_variant,p.Tyr97His,ENST00000378223,;CEP104,missense_variant,p.Tyr39His,ENST00000428079,;CEP104,splice_region_variant,,ENST00000494653,;CEP104,non_coding_transcript_exon_variant,,ENST00000494951,;							MODERATE	289/2778	Y97H	CE104_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000367476		CCDS30571.1			1	
PPP1R21	0	LGGM	GRCh37	2	48687007	48687007	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	40	5	.	.	ENST00000294952.8:c.490A>G	p.Lys164Glu	p.K164E	ENST00000294952	NM_001135629.2	164	Aag/Gag	0	1	1	UPI000015C523	0	NA	ENST00000294952		ENSG00000162869	30595		45	1.59		HGNC	p.K164E		PPP1R21		SNV							ENST00000281394	protein_coding	getma.org/?cm=var&var=hg19,2,48687007,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21448		K/E		G	low	647/3142		getma.org/?cm=msa&ty=f&p=PPR21_HUMAN&rb=1&re=200&var=K164E	deleterious(0.02)	F8W7E1_HUMAN			YES	PPP1R21,missense_variant,p.Lys164Glu,ENST00000294952,NM_001135629.2;PPP1R21,missense_variant,p.Lys164Glu,ENST00000281394,NM_001193475.1,NM_152994.4;PPP1R21,missense_variant,p.Lys164Glu,ENST00000449090,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;							MODERATE	490/2343	K164E	PPR21_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000294952		CCDS46278.1			1	
FBN3	0	LGGM	GRCh37	19	8211013	8211013	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	0	5	.	.	ENST00000600128.1:c.347G>A	p.Arg116Gln	p.R116Q	ENST00000600128		116	cGa/cAa	0	1		UPI000013D88F	0	getma.org/pdb.php?prot=FBN3_HUMAN&from=1&to=193&var=R116Q	ENST00000270509		ENSG00000142449	18794	0.000816	5	0.935		HGNC	p.R116Q	rs372350622	FBN3		SNV	T:0						ENST00000600128	protein_coding	getma.org/?cm=var&var=hg19,19,8211013,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PIRSF_domain:PIRSF036312		R/Q	T:0.0001	T	low	633/9232	5.47E-05	getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1&re=193&var=R116Q	tolerated(0.52)					FBN3,missense_variant,p.Arg116Gln,ENST00000600128,;FBN3,missense_variant,p.Arg116Gln,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Arg116Gln,ENST00000601739,;	0.0012						MODERATE	347/8430	R116Q	FBN3_HUMAN			Transcript		benign(0.002)	common_variant	ENSP00000270509	5.82E-05	CCDS12196.1			1	
CRYGA	0	LGGM	GRCh37	2	209028038	209028038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	50	5	.	.	ENST00000304502.4:c.142C>T	p.Arg48Cys	p.R48C	ENST00000304502	NM_014617.3	48	Cgt/Tgt	0	1	1	UPI000049DF32	0	getma.org/pdb.php?prot=CRGA_HUMAN&from=3&to=82&var=R48C	ENST00000304502		ENSG00000168582	2408		55	3.025		HGNC	p.R48C	rs750368223	CRYGA	0.000121	SNV							ENST00000304502	protein_coding	getma.org/?cm=var&var=hg19,2,209028038,G,A&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF28,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367		R/C		A	medium	162/609	7.49E-05	getma.org/?cm=msa&ty=f&p=CRGA_HUMAN&rb=3&re=82&var=R48C	deleterious(0.01)				YES	CRYGA,missense_variant,p.Arg48Cys,ENST00000304502,NM_014617.3;C2orf80,downstream_gene_variant,,ENST00000341287,NM_001099334.2;C2orf80,downstream_gene_variant,,ENST00000451346,;C2orf80,downstream_gene_variant,,ENST00000451342,;C2orf80,downstream_gene_variant,,ENST00000428015,;C2orf80,downstream_gene_variant,,ENST00000453017,;	0.000116						MODERATE	142/525	R48C	CRGA_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000302105	6.59E-05	CCDS33367.1			1	
ABCD2	0	LGGM	GRCh37	12	40010826	40010826	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072059	H072059N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	94	6	.	.	ENST00000308666.3:c.1084A>C	p.Ile362Leu	p.I362L	ENST00000308666	NM_005164.3	362	Ata/Cta	0	1	1	UPI000004C4C6	0	NA	ENST00000308666		ENSG00000173208	66		100	-0.235		HGNC	p.I362L		ABCD2		SNV							ENST00000308666	protein_coding	getma.org/?cm=var&var=hg19,12,40010826,T,G&fts=all		Pfam_domain:PF06472,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24		I/L		G	neutral	1220/6238		getma.org/?cm=msa&ty=f&p=ABCD2_HUMAN&rb=78&re=365&var=I362L	tolerated(0.53)				YES	ABCD2,missense_variant,p.Ile362Leu,ENST00000308666,NM_005164.3;							MODERATE	1084/2223	I362L	ABCD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000310688		CCDS8734.1			1	
CDC25C	0	LGGM	GRCh37	5	137666748	137666748	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	62	6	.	.	ENST00000323760.6:c.122T>C	p.Val41Ala	p.V41A	ENST00000323760	NM_001790.3	41	gTc/gCc	0	1	1	UPI000013E3D2	0	NA	ENST00000323760		ENSG00000158402	1727		68	0.69		HGNC	p.V58A		CDC25C		SNV							ENST00000510119	protein_coding	getma.org/?cm=var&var=hg19,5,137666748,A,G&fts=all		hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF28		V/A		G	neutral	401/2128		getma.org/?cm=msa&ty=f&p=MPIP3_HUMAN&rb=1&re=92&var=V41A	tolerated(0.16)	D6RJC2_HUMAN			YES	CDC25C,missense_variant,p.Val41Ala,ENST00000323760,NM_001790.3,NM_001287582.1;CDC25C,missense_variant,p.Val41Ala,ENST00000356505,;CDC25C,missense_variant,p.Val41Ala,ENST00000357274,;CDC25C,missense_variant,p.Val41Ala,ENST00000513970,NM_001287583.1;CDC25C,missense_variant,p.Val41Ala,ENST00000348983,NM_022809.2;CDC25C,missense_variant,p.Val41Ala,ENST00000415130,;CDC25C,missense_variant,p.Val41Ala,ENST00000514555,;CDC25C,missense_variant,p.Val41Ala,ENST00000503022,;CDC25C,missense_variant,p.Val58Ala,ENST00000510119,;FAM53C,upstream_gene_variant,,ENST00000512180,;FAM53C,upstream_gene_variant,,ENST00000511595,;FAM53C,upstream_gene_variant,,ENST00000506710,;CDC25C,upstream_gene_variant,,ENST00000504831,;							MODERATE	122/1422	V41A	MPIP3_HUMAN			Transcript		benign(0.003)	.	ENSP00000321656		CCDS4202.1			1	
CNTLN	0	LGGM	GRCh37	9	17330734	17330734	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	156	6	.	.	ENST00000380647.3:c.1446G>A	p.Leu482=	p.L482=	ENST00000380647		482	ctG/ctA	0	1	1	UPI0000458809	0		ENST00000380647		ENSG00000044459	23432		162			HGNC	p.L482L	rs369422192	CNTLN		SNV	A:0.0003			0.000102			ENST00000425824	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0		L	A:0	A		1530/5576							YES	CNTLN,synonymous_variant,p.=,ENST00000380647,;CNTLN,synonymous_variant,p.=,ENST00000425824,NM_017738.2;CNTLN,synonymous_variant,p.=,ENST00000262360,;							LOW	1446/4221		CNTLN_HUMAN			Transcript			.	ENSP00000370021	8.28E-06	CCDS43789.1			1	
MFAP1	0	LGGM	GRCh37	15	44101951	44101951	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	101	8	.	.	ENST00000267812.3:c.1047+2T>A		p.X349_splice	ENST00000267812	NM_005926.2			0	1	1	UPI000013D770	0		ENST00000267812		ENSG00000140259	7032		109			HGNC	-		MFAP1		SNV							ENST00000267812	protein_coding							T		-/2155							YES	MFAP1,splice_donor_variant,,ENST00000267812,NM_005926.2;MFAP1,splice_donor_variant,,ENST00000484386,;							HIGH	1047/1320		MFAP1_HUMAN			Transcript			.	ENSP00000267812		CCDS10105.1			1	
APAF1	0	LGGM	GRCh37	12	99060034	99060034	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	99	8	.	.	ENST00000551964.1:c.1261A>C	p.Lys421Gln	p.K421Q	ENST00000551964	NM_181861.1	421	Aag/Cag	0	1	1	UPI0000036328	0	getma.org/pdb.php?prot=APAF_HUMAN&from=415&to=481&var=K421Q	ENST00000551964		ENSG00000120868	576		107	2.095		HGNC	p.K421Q		APAF1		SNV							ENST00000339433	protein_coding	getma.org/?cm=var&var=hg19,12,99060034,A,C&fts=all		hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,PIRSF_domain:PIRSF037646		K/Q		C	medium	1997/5444		getma.org/?cm=msa&ty=f&p=APAF_HUMAN&rb=415&re=481&var=K421Q	deleterious(0.03)				YES	APAF1,missense_variant,p.Lys421Gln,ENST00000357310,NM_181868.1;APAF1,missense_variant,p.Lys410Gln,ENST00000359972,NM_013229.2,NM_001160.2;APAF1,missense_variant,p.Lys421Gln,ENST00000339433,;APAF1,missense_variant,p.Lys410Gln,ENST00000550527,;APAF1,missense_variant,p.Lys421Gln,ENST00000551964,NM_181861.1;APAF1,missense_variant,p.Lys421Gln,ENST00000547045,;APAF1,missense_variant,p.Lys421Gln,ENST00000549007,;APAF1,intron_variant,,ENST00000333991,NM_181869.1;APAF1,intron_variant,,ENST00000552268,;APAF1,upstream_gene_variant,,ENST00000555047,;							MODERATE	1261/3747	K421Q	APAF_HUMAN			Transcript		benign(0.036)	.	ENSP00000448165		CCDS9069.1			1	
SYNE2	0	LGGM	GRCh37	14	64653200	64653200	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072059	H072059N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	175	9	.	.	ENST00000358025.3:c.17615A>T	p.Lys5872Met	p.K5872M	ENST00000358025	NM_182914.2	5872	aAg/aTg	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		184	2.28		HGNC	p.K5872M		SYNE2		SNV			1				ENST00000344113	protein_coding	getma.org/?cm=var&var=hg19,14,64653200,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966		K/M		T	medium	17827/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=5679&re=5878&var=K5872M		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Lys2257Met,ENST00000357395,;SYNE2,missense_variant,p.Lys5872Met,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Lys5872Met,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Lys2506Met,ENST00000555002,;SYNE2,missense_variant,p.Lys2257Met,ENST00000394768,;SYNE2,intron_variant,,ENST00000554584,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000556275,;SYNE2,missense_variant,p.Lys834Met,ENST00000555612,;SYNE2,missense_variant,p.Lys457Met,ENST00000553289,;							MODERATE	17615/20658	K5872M	SYNE2_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000341781		CCDS41963.1			1	
ANO2	0	LGGM	GRCh37	12	5708663	5708663	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072059	H072059N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	124	11	.	.	ENST00000327087.8:c.2220G>A	p.Glu740=	p.E740=	ENST00000327087	NM_001278596.1	740	gaG/gaA	0	1		UPI00000715DF	0		ENST00000356134		ENSG00000047617	1183		135			HGNC	p.E741E		ANO2		SNV							ENST00000356134	protein_coding			Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20		E		T		2295/3717				Q69YW4_HUMAN				ANO2,synonymous_variant,p.=,ENST00000546188,;ANO2,synonymous_variant,p.=,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,synonymous_variant,p.=,ENST00000356134,;							LOW	2223/3000		ANO2_HUMAN			Transcript			.	ENSP00000348453					1	
NCBP1	0	LGGM	GRCh37	9	100431922	100431922	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072059	H072059N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	161	13	.	.	ENST00000375147.3:c.2193T>C	p.Asp731=	p.D731=	ENST00000375147	NM_002486.4	731	gaT/gaC	0	1	1	UPI0000112754	0		ENST00000375147		ENSG00000136937	7658		174			HGNC	p.D731D		NCBP1		SNV							ENST00000375147	protein_coding			Gene3D:1.25.40.180,Pfam_domain:PF09090,hmmpanther:PTHR12412,Superfamily_domains:SSF48371		D		C		2449/5178							YES	NCBP1,synonymous_variant,p.=,ENST00000375147,NM_002486.4;NCBP1,synonymous_variant,p.=,ENST00000375130,;NCBP1,upstream_gene_variant,,ENST00000491445,;							LOW	2193/2373		NCBP1_HUMAN			Transcript			.	ENSP00000364289		CCDS6728.1			1	
CSMD3	0	LGGM	GRCh37	8	113304822	113304822	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072059	H072059N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072059N.bam, H072059T.bam	Illumina HiSeq	77	17	.	.	ENST00000297405.5:c.8732C>A	p.Thr2911Lys	p.T2911K	ENST00000297405	NM_198123.1	2911	aCa/aAa	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=2875&to=2928&var=T2911K	ENST00000297405		ENSG00000164796	19291		94	-0.125		HGNC	p.T2181K	COSM343761	CSMD3		SNV						1	ENST00000339701	protein_coding	getma.org/?cm=var&var=hg19,8,113304822,G,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535		T/K		T	neutral	8977/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=2875&re=2928&var=T2911K	deleterious(0.04)				YES	CSMD3,missense_variant,p.Thr2911Lys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Thr2871Lys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Thr2841Lys,ENST00000352409,;CSMD3,missense_variant,p.Thr2742Lys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Thr2181Lys,ENST00000339701,;					1		MODERATE	8732/11124	T2911K	CSMD3_HUMAN			Transcript		benign(0.201)	.	ENSP00000297405		CCDS6315.1			1	
MST1	0	LGGM	GRCh37	3	49723307	49723307	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	41	3	.	.	ENST00000449682.2:c.1236G>T	p.Thr412=	p.T412=	ENST00000449682	NM_020998.3	412	acG/acT	0	1		UPI0002065A7A	0		ENST00000383728		ENSG00000173531	7380		44			HGNC	p.T412T		MST1		SNV			1				ENST00000449682	protein_coding							A		1188/1434								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,;							MODIFIER	-/795		HGFL_HUMAN			Transcript			.	ENSP00000373234					1	
TESK2	0	LGGM	GRCh37	1	45810901	45810901	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	32	3	.	.	ENST00000372086.3:c.1327T>C	p.Trp443Arg	p.W443R	ENST00000372086	NM_007170.2	443	Tgg/Cgg	0	1	1	UPI000004073A	0	NA	ENST00000372086		ENSG00000070759	11732		35	0.805		HGNC	p.W414R		TESK2		SNV							ENST00000341771	protein_coding	getma.org/?cm=var&var=hg19,1,45810901,A,G&fts=all		hmmpanther:PTHR23257:SF383,hmmpanther:PTHR23257		W/R		G	low	1728/3074		getma.org/?cm=msa&ty=f&p=TESK2_HUMAN&rb=432&re=569&var=W443R	tolerated(0.49)	F5GWP9_HUMAN,D3DPZ7_HUMAN			YES	TESK2,missense_variant,p.Trp443Arg,ENST00000372086,NM_007170.2;TESK2,missense_variant,p.Trp414Arg,ENST00000341771,;TESK2,missense_variant,p.Trp414Arg,ENST00000372084,;TESK2,missense_variant,p.Trp360Arg,ENST00000538496,;TOE1,downstream_gene_variant,,ENST00000372090,NM_025077.3;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,,ENST00000372110,;TOE1,downstream_gene_variant,,ENST00000539779,;MUTYH,upstream_gene_variant,,ENST00000529984,;MUTYH,upstream_gene_variant,,ENST00000528332,;MUTYH,upstream_gene_variant,,ENST00000412971,;TESK2,non_coding_transcript_exon_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000495703,;TOE1,downstream_gene_variant,,ENST00000471337,;TOE1,downstream_gene_variant,,ENST00000477731,;TOE1,downstream_gene_variant,,ENST00000460057,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000483642,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000525160,;							MODERATE	1327/1716	W443R	TESK2_HUMAN			Transcript		benign(0.14)	.	ENSP00000361158		CCDS41323.1			1	
TESK2	0	LGGM	GRCh37	1	45810888	45810888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	25	3	.	.	ENST00000372086.3:c.1340T>C	p.Leu447Pro	p.L447P	ENST00000372086	NM_007170.2	447	cTg/cCg	0	1	1	UPI000004073A	0	NA	ENST00000372086		ENSG00000070759	11732		28	0.205		HGNC	p.L418P	rs758096680	TESK2	6.06E-05	SNV							ENST00000341771	protein_coding	getma.org/?cm=var&var=hg19,1,45810888,A,G&fts=all		hmmpanther:PTHR23257:SF383,hmmpanther:PTHR23257		L/P		G	neutral	1741/3074	1.51E-05	getma.org/?cm=msa&ty=f&p=TESK2_HUMAN&rb=432&re=569&var=L447P	tolerated(0.19)	F5GWP9_HUMAN,D3DPZ7_HUMAN			YES	TESK2,missense_variant,p.Leu447Pro,ENST00000372086,NM_007170.2;TESK2,missense_variant,p.Leu418Pro,ENST00000341771,;TESK2,missense_variant,p.Leu418Pro,ENST00000372084,;TESK2,missense_variant,p.Leu364Pro,ENST00000538496,;TOE1,downstream_gene_variant,,ENST00000372090,NM_025077.3;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,,ENST00000372110,;TOE1,downstream_gene_variant,,ENST00000539779,;MUTYH,upstream_gene_variant,,ENST00000528332,;MUTYH,upstream_gene_variant,,ENST00000529984,;MUTYH,upstream_gene_variant,,ENST00000412971,;TESK2,non_coding_transcript_exon_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000495703,;TOE1,downstream_gene_variant,,ENST00000471337,;TOE1,downstream_gene_variant,,ENST00000477731,;TOE1,downstream_gene_variant,,ENST00000460057,;MUTYH,upstream_gene_variant,,ENST00000481571,;MUTYH,upstream_gene_variant,,ENST00000483642,;MUTYH,upstream_gene_variant,,ENST00000481139,;MUTYH,upstream_gene_variant,,ENST00000467940,;MUTYH,upstream_gene_variant,,ENST00000461495,;MUTYH,upstream_gene_variant,,ENST00000476789,;MUTYH,upstream_gene_variant,,ENST00000462387,;MUTYH,upstream_gene_variant,,ENST00000534453,;MUTYH,upstream_gene_variant,,ENST00000525160,;							MODERATE	1340/1716	L447P	TESK2_HUMAN	0.000154		Transcript		benign(0)	.	ENSP00000361158	3.31E-05	CCDS41323.1	0.00112		1	
IFT122	0	LGGM	GRCh37	3	129214370	129214370	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	40	3	.	.	ENST00000296266.3:c.2281G>A	p.Ala761Thr	p.A761T	ENST00000296266	NM_052985.3	761	Gcc/Acc	0	1		UPI000006E33C	0	NA	ENST00000348417		ENSG00000163913	13556		43	3.24		HGNC	p.A702T	COSM3408217	IFT122		SNV			1			1	ENST00000507564	protein_coding	getma.org/?cm=var&var=hg19,3,129214370,G,A&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR12764:SF4,hmmpanther:PTHR12764		A/T		A	medium	2205/3877		getma.org/?cm=msa&ty=f&p=IF122_HUMAN&rb=550&re=749&var=A710T	deleterious(0)	Q7L8K0_HUMAN,H7C3C0_HUMAN				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,;					1		MODERATE	2128/3726	A710T	IF122_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000324005		CCDS3061.1			1	
PXDN	0	LGGM	GRCh37	2	1670215	1670215	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	15	3	.	.	ENST00000252804.4:c.1062G>C	p.Leu354=	p.L354=	ENST00000252804	NM_012293.1	354	ctG/ctC	0	1	1	UPI00001C1DC2	0		ENST00000252804		ENSG00000130508	14966		18			HGNC	p.L354L		PXDN		SNV			1				ENST00000252804	protein_coding			PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		L		G		1113/6808							YES	PXDN,synonymous_variant,p.=,ENST00000252804,NM_012293.1;PXDN,synonymous_variant,p.=,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000467191,;PXDN,non_coding_transcript_exon_variant,,ENST00000477810,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;							LOW	1062/4440		PXDN_HUMAN			Transcript			.	ENSP00000252804		CCDS46221.1			1	
GRID1	0	LGGM	GRCh37	10	87373297	87373297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	44	3	.	.	ENST00000327946.7:c.2468G>A	p.Gly823Asp	p.G823D	ENST00000327946	NM_017551.2	823	gGc/gAc	0	1	1	UPI00001D8051	0	getma.org/pdb.php?prot=GRID1_HUMAN&from=562&to=842&var=G823D	ENST00000327946		ENSG00000182771	4575		47	1.885		HGNC	p.G823D		GRID1		SNV							ENST00000327946	protein_coding	getma.org/?cm=var&var=hg19,10,87373297,C,T&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Pfam_domain:PF00060		G/D		T	low	2554/5834		getma.org/?cm=msa&ty=f&p=GRID1_HUMAN&rb=562&re=842&var=G823D	deleterious(0)	B7Z7L0_HUMAN			YES	GRID1,missense_variant,p.Gly823Asp,ENST00000327946,NM_017551.2;GRID1,missense_variant,p.Gly394Asp,ENST00000536331,;GRID1,upstream_gene_variant,,ENST00000552278,;GRID1,3_prime_UTR_variant,,ENST00000464741,;							MODERATE	2468/3030	G823D	GRID1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000330148		CCDS31236.1			1	
ADAP1	0	LGGM	GRCh37	7	938672	938672	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	11	3	.	.	ENST00000265846.5:c.1094C>T	p.Ala365Val	p.A365V	ENST00000265846	NM_006869.2	365	gCa/gTa	0	1	1	UPI000013D694	0	getma.org/pdb.php?prot=ADAP1_HUMAN&from=357&to=374&var=A365V	ENST00000265846		ENSG00000105963	16486		14	2.32		HGNC	p.A293V	COSM3394946,COSM3394947	ADAP1		SNV						1,1	ENST00000449296	protein_coding	getma.org/?cm=var&var=hg19,7,938672,G,A&fts=all		Superfamily_domains:SSF50729,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF219		A/V		A	medium	1314/2363		getma.org/?cm=msa&ty=f&p=ADAP1_HUMAN&rb=327&re=374&var=A365V	deleterious(0.03)	H7C2Q4_HUMAN			YES	ADAP1,missense_variant,p.Ala365Val,ENST00000265846,NM_006869.2,NM_001284311.1;ADAP1,missense_variant,p.Ala293Val,ENST00000449296,NM_001284309.1,NM_001284310.1;ADAP1,missense_variant,p.Ala348Val,ENST00000446141,;ADAP1,missense_variant,p.Ala376Val,ENST00000539900,NM_001284308.1;ADAP1,missense_variant,p.Ala236Val,ENST00000453175,;GET4,downstream_gene_variant,,ENST00000407192,;GET4,downstream_gene_variant,,ENST00000265857,NM_015949.2;ADAP1,downstream_gene_variant,,ENST00000437486,;ADAP1,downstream_gene_variant,,ENST00000454383,;ADAP1,downstream_gene_variant,,ENST00000453823,;ADAP1,splice_region_variant,,ENST00000495809,;ADAP1,splice_region_variant,,ENST00000478000,;COX19,splice_region_variant,,ENST00000457254,;SUN1,downstream_gene_variant,,ENST00000457861,;GET4,downstream_gene_variant,,ENST00000464468,;ADAP1,downstream_gene_variant,,ENST00000481406,;					1,1		MODERATE	1094/1125	A365V	ADAP1_HUMAN			Transcript		benign(0.087)	.	ENSP00000265846		CCDS5318.1			1	
SF3B1	0	LGGM	GRCh37	2	198268461	198268461	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	29	3	.	.	ENST00000335508.6:c.1567G>T	p.Ala523Ser	p.A523S	ENST00000335508	NM_012433.2	523	Gct/Tct	0	1	1	UPI000013D493	0	NA	ENST00000335508		ENSG00000115524	10768		32	3.16		HGNC	p.A523S		SF3B1		SNV			1				ENST00000335508	protein_coding	getma.org/?cm=var&var=hg19,2,198268461,C,A&fts=all		hmmpanther:PTHR12097,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		A/S		A	medium	1659/6526		getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=458&re=657&var=A523S	deleterious(0.03)	Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,missense_variant,p.Ala523Ser,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,;							MODERATE	1567/3915	A523S	SF3B1_HUMAN			Transcript		possibly_damaging(0.45)	.	ENSP00000335321		CCDS33356.1			1	
CHRNA7	0	LGGM	GRCh37	15	32449934	32449934	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	44	3	.	.	ENST00000454250.3:c.643G>T	p.Asp215Tyr	p.D215Y	ENST00000454250	NM_001190455.2	215	Gat/Tat	0	1		UPI000003581A	0	getma.org/pdb.php?prot=ACHA7_HUMAN&from=26&to=230&var=D186Y	ENST00000306901		ENSG00000175344	1960		47	3.78		HGNC	p.D215Y		CHRNA7		SNV			1				ENST00000454250	protein_coding	getma.org/?cm=var&var=hg19,15,32449934,G,T&fts=all		hmmpanther:PTHR18945:SF480,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932		D/Y		T	high	653/5669		getma.org/?cm=msa&ty=f&p=ACHA7_HUMAN&rb=26&re=230&var=D186Y	deleterious(0)	Q693P7_HUMAN				CHRNA7,missense_variant,p.Asp186Tyr,ENST00000306901,NM_000746.5;CHRNA7,missense_variant,p.Asp215Tyr,ENST00000454250,NM_001190455.2;CHRNA7,missense_variant,p.Asp5Tyr,ENST00000455693,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;							MODERATE	556/1509	D186Y	ACHA7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000303727		CCDS10027.1			1	
SNRNP200	0	LGGM	GRCh37	2	96950994	96950994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	43	3	.	.	ENST00000323853.5:c.4088C>T	p.Ala1363Val	p.A1363V	ENST00000323853	NM_014014.4	1363	gCc/gTc	0	1	1	UPI0000207C53	0	getma.org/pdb.php?prot=U520_HUMAN&from=1329&to=1515&var=A1363V	ENST00000323853		ENSG00000144028	30859		46	3.17		HGNC	p.A1363V		SNRNP200		SNV			1				ENST00000323853	protein_coding	getma.org/?cm=var&var=hg19,2,96950994,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF55,SMART_domains:SM00487,Superfamily_domains:SSF52540		A/V		A	medium	4166/7165		getma.org/?cm=msa&ty=f&p=U520_HUMAN&rb=1329&re=1515&var=A1363V	deleterious(0)	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN			YES	SNRNP200,missense_variant,p.Ala1363Val,ENST00000323853,NM_014014.4;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,5_prime_UTR_variant,,ENST00000429650,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000480615,;SNRNP200,upstream_gene_variant,,ENST00000480242,;SNRNP200,upstream_gene_variant,,ENST00000497539,;SNRNP200,upstream_gene_variant,,ENST00000493271,;							MODERATE	4088/6411	A1363V	U520_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000317123		CCDS2020.1			1	
ZNF425	0	LGGM	GRCh37	7	148802397	148802397	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	27	3	.	.	ENST00000378061.2:c.566G>T	p.Cys189Phe	p.C189F	ENST00000378061	NM_001001661.2	189	tGc/tTc	0	1	1	UPI00001B64B9	0	NA	ENST00000378061		ENSG00000204947	20690		30	0		HGNC	p.C189F		ZNF425		SNV							ENST00000378061	protein_coding	getma.org/?cm=var&var=hg19,7,148802397,C,A&fts=all		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF120,Superfamily_domains:SSF57667		C/F		A	neutral	699/3220		getma.org/?cm=msa&ty=f&p=ZN425_HUMAN&rb=50&re=189&var=C189F	tolerated(0.8)				YES	ZNF425,missense_variant,p.Cys189Phe,ENST00000378061,NM_001001661.2;ZNF425,downstream_gene_variant,,ENST00000483014,;ZNF425,non_coding_transcript_exon_variant,,ENST00000495685,;							MODERATE	566/2259	C189F	ZN425_HUMAN			Transcript		benign(0)	.	ENSP00000367300		CCDS34773.1			1	
RXFP4	0	LGGM	GRCh37	1	155912063	155912063	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	6	3	.	.	ENST00000368318.3:c.563T>A	p.Val188Glu	p.V188E	ENST00000368318	NM_181885.2	188	gTg/gAg	0	1	1	UPI0000048F6E	0	getma.org/pdb.php?prot=RL3R2_HUMAN&from=56&to=309&var=V188E	ENST00000368318		ENSG00000173080	14666		9	-0.935		HGNC	p.V188E		RXFP4		SNV							ENST00000368318	protein_coding	getma.org/?cm=var&var=hg19,1,155912063,T,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF32,hmmpanther:PTHR24230,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		V/E		A	neutral	584/1146		getma.org/?cm=msa&ty=f&p=RL3R2_HUMAN&rb=56&re=309&var=V188E	tolerated(1)				YES	RXFP4,missense_variant,p.Val188Glu,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,;							MODERATE	563/1125	V188E	RL3R2_HUMAN			Transcript		benign(0.133)	.	ENSP00000357301		CCDS1124.1			1	
PXDN	0	LGGM	GRCh37	2	1670214	1670214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	15	3	.	.	ENST00000252804.4:c.1063G>T	p.Val355Phe	p.V355F	ENST00000252804	NM_012293.1	355	Gtt/Ttt	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=342&to=429&var=V355F	ENST00000252804		ENSG00000130508	14966		18	1.63		HGNC	p.V355F		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1670214,C,A&fts=all		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/F		A	low	1114/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=342&re=429&var=V355F	tolerated(0.05)				YES	PXDN,missense_variant,p.Val355Phe,ENST00000252804,NM_012293.1;PXDN,missense_variant,p.Val351Phe,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000483018,;PXDN,non_coding_transcript_exon_variant,,ENST00000467191,;PXDN,non_coding_transcript_exon_variant,,ENST00000477810,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;							MODERATE	1063/4440	V355F	PXDN_HUMAN			Transcript		benign(0.16)	.	ENSP00000252804		CCDS46221.1			1	
ITPR3	0	LGGM	GRCh37	6	33646593	33646593	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	11	4	.	.	ENST00000374316.5:c.3949T>C	p.Cys1317Arg	p.C1317R	ENST00000374316		1317	Tgc/Cgc	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		15	2.305		HGNC	p.C1317R	rs552348342	ITPR3		SNV				0.000229			ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33646593,T,C&fts=all	C:0.0008	Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		C/R		C	medium	5009/9870		getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=1171&re=1345&var=C1317R	deleterious(0)	A6H8K3_HUMAN	C:0	C:0	YES	ITPR3,missense_variant,p.Cys1317Arg,ENST00000374316,;ITPR3,missense_variant,p.Cys1317Arg,ENST00000605930,NM_002224.3;		C:0.0002					MODERATE	3949/8016	C1317R	ITPR3_HUMAN		C:0	Transcript		probably_damaging(0.996)	.	ENSP00000363435	1.65E-05	CCDS4783.1		C:0	1	
GAMT	0	LGGM	GRCh37	19	1397462	1397462	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	9	4	.	.				ENST00000233627	NM_024407.4			0	1		UPI000012B0CC	0	getma.org/pdb.php?prot=GAMT_HUMAN&from=13&to=236&var=R203W	ENST00000252288		ENSG00000130005	4136		13	0.55		HGNC	p.R203W	rs746633494	GAMT	0.000121	SNV			1				ENST00000252288	protein_coding	getma.org/?cm=var&var=hg19,19,1397462,G,A&fts=all		PROSITE_profiles:PS51559,hmmpanther:PTHR32162,Gene3D:3.40.50.150,PIRSF_domain:PIRSF009285,Superfamily_domains:SSF53335		R/W		A	neutral	674/1045	6.15E-05	getma.org/?cm=msa&ty=f&p=GAMT_HUMAN&rb=13&re=236&var=R203W	deleterious(0)					GAMT,missense_variant,p.Arg203Trp,ENST00000252288,NM_000156.5;NDUFS7,downstream_gene_variant,,ENST00000313408,;GAMT,downstream_gene_variant,,ENST00000447102,NM_138924.2;NDUFS7,downstream_gene_variant,,ENST00000546283,;NDUFS7,downstream_gene_variant,,ENST00000233627,NM_024407.4;NDUFS7,downstream_gene_variant,,ENST00000539480,;NDUFS7,downstream_gene_variant,,ENST00000414651,;GAMT,downstream_gene_variant,,ENST00000591788,;AC005329.7,upstream_gene_variant,,ENST00000501448,;AC005329.7,upstream_gene_variant,,ENST00000589734,;AC005329.7,upstream_gene_variant,,ENST00000585596,;NDUFS7,downstream_gene_variant,,ENST00000540530,;NDUFS7,downstream_gene_variant,,ENST00000538929,;NDUFS7,downstream_gene_variant,,ENST00000591358,;NDUFS7,downstream_gene_variant,,ENST00000543289,;NDUFS7,downstream_gene_variant,,ENST00000545446,;NDUFS7,downstream_gene_variant,,ENST00000535382,;NDUFS7,downstream_gene_variant,,ENST00000436115,;NDUFS7,downstream_gene_variant,,ENST00000538662,;NDUFS7,downstream_gene_variant,,ENST00000538523,;NDUFS7,downstream_gene_variant,,ENST00000534853,;NDUFS7,downstream_gene_variant,,ENST00000546172,;							MODERATE	607/711	R203W	GAMT_HUMAN			Transcript		benign(0.415)	.	ENSP00000252288	4.95E-05	CCDS12064.1			1	
KCNE4	0	LGGM	GRCh37	2	223917632	223917632	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	20	6	.	.	ENST00000604125.1:c.84C>T	p.Gly28=	p.G28=	ENST00000604125		28	ggC/ggT	0	1		UPI00002096C1	0		ENST00000281830		ENSG00000152049	6244		26			HGNC	p.G28G	COSM1614438	KCNE4		SNV						1	ENST00000281830	protein_coding			Pfam_domain:PF02060,hmmpanther:PTHR20918,hmmpanther:PTHR20918:SF0,Low_complexity_(Seg):seg		G		T		568/3291				Q2N1I0_HUMAN,A5H1P5_HUMAN				KCNE4,synonymous_variant,p.=,ENST00000281830,NM_080671.3;KCNE4,synonymous_variant,p.=,ENST00000604125,;KCNE4,intron_variant,,ENST00000488477,;					1		LOW	237/666					Transcript			.	ENSP00000281830		CCDS2456.2			1	
BAZ2B	0	LGGM	GRCh37	2	160182226	160182226	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	92	6	.	.	ENST00000392783.2:c.6147A>T	p.Gln2049His	p.Q2049H	ENST00000392783	NM_013450.2	2049	caA/caT	0	1	1	UPI0000D74C4A	0	NA	ENST00000392783		ENSG00000123636	963		98	0.695		HGNC	p.Q1949H		BAZ2B		SNV							ENST00000343439	protein_coding	getma.org/?cm=var&var=hg19,2,160182226,T,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144		Q/H		A	neutral	6643/8289		getma.org/?cm=msa&ty=f&p=BAZ2B_HUMAN&rb=1982&re=2068&var=Q2049H		Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,missense_variant,p.Gln2049His,ENST00000392783,NM_013450.2;BAZ2B,missense_variant,p.Gln2013His,ENST00000392782,;BAZ2B,missense_variant,p.Gln2015His,ENST00000355831,;BAZ2B,missense_variant,p.Gln1949His,ENST00000343439,;BAZ2B,downstream_gene_variant,,ENST00000474437,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000548440,;							MODERATE	6147/6507	Q2049H	BAZ2B_HUMAN			Transcript		possibly_damaging(0.719)	.	ENSP00000376534		CCDS2209.2			1	
UNC5C	0	LGGM	GRCh37	4	96123911	96123911	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	3	6	.	.	ENST00000453304.1:c.2107T>C	p.Cys703Arg	p.C703R	ENST00000453304	NM_003728.3	703	Tgt/Cgt	0	1	1	UPI000004E6A5	0	getma.org/pdb.php?prot=UNC5C_HUMAN&from=631&to=830&var=C703R	ENST00000453304		ENSG00000182168	12569		9	2.99		HGNC	p.C703R		UNC5C		SNV							ENST00000453304	protein_coding	getma.org/?cm=var&var=hg19,4,96123911,A,G&fts=all		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7		C/R		G	medium	2456/9875		getma.org/?cm=msa&ty=f&p=UNC5C_HUMAN&rb=631&re=830&var=C703R	deleterious(0)	Q4W5H4_HUMAN			YES	UNC5C,missense_variant,p.Cys703Arg,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Cys722Arg,ENST00000513796,;							MODERATE	2107/2796	C703R	UNC5C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000406022		CCDS3643.1			1	
PEBP4	0	LGGM	GRCh37	8	22582432	22582432	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	12	6	.	.	ENST00000256404.6:c.441C>A	p.Phe147Leu	p.F147L	ENST00000256404	NM_144962.2	147	ttC/ttA	0	1	1	UPI0000037788	0	getma.org/pdb.php?prot=PEBP4_HUMAN&from=57&to=197&var=F147L	ENST00000256404		ENSG00000134020	28319		18	-1.035		HGNC	p.F147L		PEBP4		SNV							ENST00000256404	protein_coding	getma.org/?cm=var&var=hg19,8,22582432,G,T&fts=all		Gene3D:3.90.280.10,Pfam_domain:PF01161,hmmpanther:PTHR11362,hmmpanther:PTHR11362:SF12,Superfamily_domains:SSF49777		F/L		T	neutral	533/890		getma.org/?cm=msa&ty=f&p=PEBP4_HUMAN&rb=57&re=197&var=F147L	tolerated(0.22)				YES	PEBP4,missense_variant,p.Phe147Leu,ENST00000256404,NM_144962.2;RP11-459E5.1,intron_variant,,ENST00000523627,;							MODERATE	441/684	F147L	PEBP4_HUMAN			Transcript		benign(0.013)	.	ENSP00000256404		CCDS43724.1			1	
NR5A2	0	LGGM	GRCh37	1	200008881	200008881	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	21	7	.	.	ENST00000367362.3:c.160C>G	p.Arg54Gly	p.R54G	ENST00000367362	NM_205860.2	54	Cga/Gga	0	1	1	UPI0000130482	0	NA	ENST00000367362		ENSG00000116833	7984		28	0.55		HGNC	p.R54G	rs117334803	NR5A2	6.06E-05	SNV							ENST00000367362	protein_coding	getma.org/?cm=var&var=hg19,1,200008881,C,G&fts=all	T:0	PIRSF_domain:PIRSF002530,hmmpanther:PTHR24086,hmmpanther:PTHR24086:SF18		R/G		G	neutral	406/5086		getma.org/?cm=msa&ty=f&p=NR5A2_HUMAN&rb=54&re=83&var=R54G	tolerated_low_confidence(0.63)	Q8WY08_HUMAN,B4E2P3_HUMAN	T:0.0014	T:0.002	YES	NR5A2,missense_variant,p.Arg54Gly,ENST00000367362,NM_205860.2;NR5A2,missense_variant,p.Arg67Gly,ENST00000447034,;NR5A2,intron_variant,,ENST00000236914,NM_003822.4;NR5A2,upstream_gene_variant,,ENST00000544748,NM_001276464.1;NR5A2,upstream_gene_variant,,ENST00000367357,;NR5A2,intron_variant,,ENST00000474307,;		T:0.0006					MODERATE	160/1626	R54G	NR5A2_HUMAN		T:0	Transcript		benign(0)	.	ENSP00000356331	8.24E-06	CCDS1401.1		T:0	1	
KRT6A	0	LGGM	GRCh37	12	52884428	52884428	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	134	7	.	.	ENST00000330722.6:c.1002C>T	p.Ile334=	p.I334=	ENST00000330722	NM_005554.3	334	atC/atT	0	1	1	UPI000013CD4C	0		ENST00000330722		ENSG00000205420	6443		141			HGNC	p.I334I	rs762764830	KRT6A	6.06E-05	SNV			1				ENST00000330722	protein_coding			Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141		I		A		1071/2310	4.50E-05						YES	KRT6A,synonymous_variant,p.=,ENST00000330722,NM_005554.3;KRT6A,non_coding_transcript_exon_variant,,ENST00000549898,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549754,;KRT6A,non_coding_transcript_exon_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;	0.000231						LOW	1002/1695		K2C6A_HUMAN			Transcript			.	ENSP00000369317	4.94E-05	CCDS41786.1			1	
SHARPIN	0	LGGM	GRCh37	8	145154288	145154288	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	28	8	.	.	ENST00000398712.2:c.814A>G	p.Ile272Val	p.I272V	ENST00000398712	NM_030974.3	272	Atc/Gtc	0	1	1	UPI0000037CCA	0	getma.org/pdb.php?prot=SHRPN_HUMAN&from=219&to=288&var=I272V	ENST00000398712		ENSG00000179526	25321		36	2.485		HGNC	p.I272V		SHARPIN		SNV							ENST00000359551	protein_coding	getma.org/?cm=var&var=hg19,8,145154288,T,C&fts=all		Gene3D:3.10.20.90,hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF31,Superfamily_domains:SSF54236		I/V		C	medium	1251/1765		getma.org/?cm=msa&ty=f&p=SHRPN_HUMAN&rb=219&re=288&var=I272V	deleterious(0.03)	H0YCU2_HUMAN			YES	SHARPIN,missense_variant,p.Ile272Val,ENST00000398712,NM_030974.3;CYC1,downstream_gene_variant,,ENST00000318911,NM_001916.3;SHARPIN,upstream_gene_variant,,ENST00000532536,;SHARPIN,non_coding_transcript_exon_variant,,ENST00000534242,;SHARPIN,downstream_gene_variant,,ENST00000533948,;SHARPIN,downstream_gene_variant,,ENST00000533184,;SHARPIN,missense_variant,p.Ile272Val,ENST00000359551,;SHARPIN,non_coding_transcript_exon_variant,,ENST00000530216,;SHARPIN,non_coding_transcript_exon_variant,,ENST00000525275,;CYC1,downstream_gene_variant,,ENST00000533444,;CYC1,downstream_gene_variant,,ENST00000528618,;SHARPIN,downstream_gene_variant,,ENST00000534435,;SHARPIN,downstream_gene_variant,,ENST00000531375,;CYC1,downstream_gene_variant,,ENST00000525122,;							MODERATE	814/1164	I272V	SHRPN_HUMAN			Transcript		benign(0.065)	.	ENSP00000381698		CCDS43777.1			1	
DCHS2	0	LGGM	GRCh37	4	155156308	155156308	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	23	8	.	.	ENST00000357232.4:c.8131G>C	p.Glu2711Gln	p.E2711Q	ENST00000357232	NM_017639.3	2711	Gaa/Caa	0	1	1	UPI000035B018	0	NA	ENST00000357232		ENSG00000197410	23111		31	1.1		HGNC	p.E2711Q		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155156308,C,G&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257		E/Q		G	low	8131/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=2541&re=2915&var=E2711Q	tolerated(0.11)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Glu2711Gln,ENST00000357232,NM_017639.3;							MODERATE	8131/8751	E2711Q	PCD23_HUMAN			Transcript		possibly_damaging(0.467)	.	ENSP00000349768		CCDS3785.1			1	
SENP1	0	LGGM	GRCh37	12	48459408	48459408	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	9	8	.	.	ENST00000004980.5:c.1090A>C	p.Lys364Gln	p.K364Q	ENST00000004980		364	Aag/Cag	0	1		UPI000003756B	0	NA	ENST00000448372		ENSG00000079387	17927		17	0.805		HGNC	p.K364Q		SENP1		SNV							ENST00000549518	protein_coding	getma.org/?cm=var&var=hg19,12,48459408,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF7,Low_complexity_(Seg):seg		K/Q		G	low	1536/4726		getma.org/?cm=msa&ty=f&p=SENP1_HUMAN&rb=1&re=434&var=K364Q	deleterious(0.02)	F8VRZ8_HUMAN				SENP1,missense_variant,p.Lys364Gln,ENST00000004980,;SENP1,missense_variant,p.Lys364Gln,ENST00000448372,NM_001267595.1;SENP1,missense_variant,p.Lys364Gln,ENST00000551330,;SENP1,missense_variant,p.Lys364Gln,ENST00000549518,NM_001267594.1;SENP1,missense_variant,p.Lys364Gln,ENST00000549595,;SENP1,3_prime_UTR_variant,,ENST00000339976,;SENP1,3_prime_UTR_variant,,ENST00000552189,;SENP1,non_coding_transcript_exon_variant,,ENST00000551358,;							MODERATE	1090/1932	K364Q	SENP1_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000394791					1	
CCDC88A	0	LGGM	GRCh37	2	55582878	55582878	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	10	8	.	.	ENST00000336838.6:c.637G>T	p.Glu213Ter	p.E213*	ENST00000336838		213	Gaa/Taa	0	1		UPI000150AEEC	0	NA	ENST00000436346		ENSG00000115355	25523		18	0		HGNC	p.E213X		CCDC88A		SNV							ENST00000263630	protein_coding	getma.org/?cm=var&var=hg19,2,55582878,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30		E/*		A	NA	1479/9811		NA		C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,stop_gained,p.Glu213Ter,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,stop_gained,p.Glu213Ter,ENST00000263630,NM_018084.4;CCDC88A,stop_gained,p.Glu213Ter,ENST00000336838,;CCDC88A,stop_gained,p.Glu213Ter,ENST00000413716,;CCDC88A,stop_gained,p.Glu138Ter,ENST00000430086,;							HIGH	637/5616	E213*	GRDN_HUMAN			Transcript			.	ENSP00000410608					1	
CLEC12B	0	LGGM	GRCh37	12	10165418	10165418	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	31	9	.	.	ENST00000338896.5:c.126T>C	p.Ala42=	p.A42=	ENST00000338896	NM_001129998.1	42	gcT/gcC	0	1	1	UPI000036687A	0		ENST00000338896		ENSG00000256660	31966		40			HGNC	p.A42A		CLEC12B		SNV							ENST00000544853	protein_coding			Pfam_domain:PF08391,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF151,Transmembrane_helices:TMhelix		A		C		254/1097							YES	CLEC12B,synonymous_variant,p.=,ENST00000396502,NM_205852.2;CLEC12B,synonymous_variant,p.=,ENST00000338896,NM_001129998.1;CLEC1B,intron_variant,,ENST00000428126,;RP11-133L14.5,downstream_gene_variant,,ENST00000544225,;CLEC12B,synonymous_variant,p.=,ENST00000539155,;CLEC12B,synonymous_variant,p.=,ENST00000544853,;CLEC12B,non_coding_transcript_exon_variant,,ENST00000535903,;							LOW	126/831		CL12B_HUMAN			Transcript			.	ENSP00000344563		CCDS44830.1			1	
EBF3	0	LGGM	GRCh37	10	131638682	131638682	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	4	9	.	.	ENST00000368648.3:c.1535-84C>A		*512*	ENST00000368648	NM_001005463.2			0	1		UPI0000127E28	0		ENST00000355311		ENSG00000108001	19087		13			HGNC	p.A529E		EBF3		SNV							ENST00000355311	protein_coding			hmmpanther:PTHR10747		A/E		T		1659/2993			deleterious(0.04)					EBF3,missense_variant,p.Ala529Glu,ENST00000355311,;EBF3,missense_variant,p.Ala91Glu,ENST00000440978,;EBF3,intron_variant,,ENST00000368648,NM_001005463.2;MIR4297,downstream_gene_variant,,ENST00000579857,;							MODERATE	1586/1791		COE3_HUMAN			Transcript		benign(0.213)	.	ENSP00000347463					1	
KCNG1	0	LGGM	GRCh37	20	49626315	49626315	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	11	9	.	.	ENST00000371571.4:c.561C>T	p.Asp187=	p.D187=	ENST00000371571	NM_002237.3	187	gaC/gaT	0	1	1	UPI000012DC99	0		ENST00000371571		ENSG00000026559	6248		20			HGNC	p.D187D		KCNG1		SNV							ENST00000439216	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF88		D		A		847/2211				Q5JXL4_HUMAN,A2A2I9_HUMAN,A2A2I8_HUMAN			YES	KCNG1,synonymous_variant,p.=,ENST00000371571,NM_002237.3;KCNG1,synonymous_variant,p.=,ENST00000396017,;KCNG1,synonymous_variant,p.=,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,;							LOW	561/1542		KCNG1_HUMAN			Transcript			.	ENSP00000360626		CCDS13436.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	28	19	.	.	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=H36P	ENST00000349496		ENSG00000168036	2514		47	1.965		HGNC	p.H36P	COSM5678	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266110,A,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		H/P		C	medium	387/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=H36P	deleterious(0.04)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	107/2346	H36P	CTNB1_HUMAN			Transcript		benign(0.397)	.	ENSP00000344456		CCDS2694.1			1	
KIFC2	0	LGGM	GRCh37	8	145693281	145693301	+	inframe_deletion	In_Frame_Del	DEL	CTGGAGAACGAGGCCCTGAAG	CTGGAGAACGAGGCCCTGAAG	-	novel	by Submitter	H072103	H072103N.bam	CTGGAGAACGAGGCCCTGAAG	CTGGAGAACGAGGCCCTGAAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	18	10	.	.	ENST00000301332.2:c.722_742del	p.Leu241_Lys247del	p.L241_K247del	ENST00000301332	NM_145754.2	241	CTGGAGAACGAGGCCCTGAAG/-	0	1	1	UPI000006D3B2	0		ENST00000301332		ENSG00000167702	29530		28			HGNC	p.241_247del		KIFC2		deletion							ENST00000301332	protein_coding			Coiled-coils_(Ncoils):Coil		LENEALK/-		-		1098-1118/3646							YES	KIFC2,inframe_deletion,p.Leu241_Lys247del,ENST00000301332,NM_145754.2;KIFC2,5_prime_UTR_variant,,ENST00000301331,;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000533764,;CYHR1,upstream_gene_variant,,ENST00000530637,;CTD-2517M22.16,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,non_coding_transcript_exon_variant,,ENST00000533114,;KIFC2,non_coding_transcript_exon_variant,,ENST00000529644,;KIFC2,upstream_gene_variant,,ENST00000531425,;CYHR1,upstream_gene_variant,,ENST00000524623,;KIFC2,upstream_gene_variant,,ENST00000529864,;							MODERATE	721-741/2517		KIFC2_HUMAN			Transcript	1		.	ENSP00000301332		CCDS6427.1			1	
GMEB1	0	LGGM	GRCh37	1	29016683	29016683	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	7	11	.	.	ENST00000294409.2:c.226A>G	p.Ile76Val	p.I76V	ENST00000294409	NM_006582.3	76	Att/Gtt	0	1	1	UPI000012B8AB	0	NA	ENST00000294409		ENSG00000162419	4370		18	0		HGNC	p.I66V		GMEB1		SNV							ENST00000373816	protein_coding	getma.org/?cm=var&var=hg19,1,29016683,A,G&fts=all		hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF3		I/V		G	neutral	316/1912		getma.org/?cm=msa&ty=f&p=GMEB1_HUMAN&rb=1&re=84&var=I76V	tolerated(0.33)				YES	GMEB1,missense_variant,p.Ile66Val,ENST00000373816,NM_024482.2;GMEB1,missense_variant,p.Ile76Val,ENST00000294409,NM_006582.3;GMEB1,missense_variant,p.Ile66Val,ENST00000361872,;SCARNA24,downstream_gene_variant,,ENST00000516968,;GMEB1,non_coding_transcript_exon_variant,,ENST00000480454,;							MODERATE	226/1722	I76V	GMEB1_HUMAN			Transcript		benign(0.004)	.	ENSP00000294409		CCDS327.1			1	
AFTPH	0	LGGM	GRCh37	2	64780381	64780381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	25	11	.	.	ENST00000238855.7:c.1773G>T	p.Gln591His	p.Q591H	ENST00000238855	NM_203437.3	591	caG/caT	0	1	1	UPI00003E1F8E	0	NA	ENST00000238855		ENSG00000119844	25951		36	1.1		HGNC	p.Q222H		AFTPH		SNV							ENST00000409183	protein_coding	getma.org/?cm=var&var=hg19,2,64780381,G,T&fts=all		hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156		Q/H		T	low	2087/4087		getma.org/?cm=msa&ty=f&p=AFTIN_HUMAN&rb=541&re=639&var=Q591H	tolerated(0.1)				YES	AFTPH,missense_variant,p.Gln591His,ENST00000422803,;AFTPH,missense_variant,p.Gln591His,ENST00000238855,NM_203437.3;AFTPH,missense_variant,p.Gln591His,ENST00000238856,NM_001002243.2,NM_017657.4;AFTPH,missense_variant,p.Gln591His,ENST00000409933,;AFTPH,missense_variant,p.Gln222His,ENST00000409183,;AFTPH,non_coding_transcript_exon_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;							MODERATE	1773/2811	Q591H	AFTIN_HUMAN			Transcript		benign(0.043)	.	ENSP00000238855		CCDS46303.1			1	
GLTSCR1	0	LGGM	GRCh37	19	48197800	48197800	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	13	11	.	.	ENST00000396720.3:c.2712C>T	p.Ser904=	p.S904=	ENST00000396720	NM_015711.3	904	tcC/tcT	0	1	1	UPI00016278EE	0		ENST00000396720		ENSG00000063169	4332		24			HGNC	p.S904S	rs769691503	GLTSCR1		SNV							ENST00000396720	protein_coding			hmmpanther:PTHR15572:SF1,hmmpanther:PTHR15572		S		T		2906/5684	1.58E-05			M0QYC3_HUMAN			YES	GLTSCR1,synonymous_variant,p.=,ENST00000396720,NM_015711.3;CTD-2571L23.8,intron_variant,,ENST00000599924,;	0.000235						LOW	2712/4683		GSCR1_HUMAN			Transcript			.	ENSP00000379946	2.48E-05	CCDS46134.1			1	
RAD50	0	LGGM	GRCh37	5	131931498	131931498	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	42	11	.	.	ENST00000265335.6:c.2203A>G	p.Met735Val	p.M735V	ENST00000265335		735	Atg/Gtg	0	1		UPI000006F2C4	0	NA	ENST00000378823		ENSG00000113522	9816		53	0		HGNC	p.M596V		RAD50		SNV			1				ENST00000378823	protein_coding	getma.org/?cm=var&var=hg19,5,131931498,A,G&fts=all		hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,TIGRFAM_domain:TIGR00606		M/V		G	neutral	2604/6597		getma.org/?cm=msa&ty=f&p=RAD50_HUMAN&rb=721&re=829&var=M735V	tolerated(1)					RAD50,missense_variant,p.Met596Val,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Met735Val,ENST00000265335,;RAD50,downstream_gene_variant,,ENST00000453394,;RAD50,downstream_gene_variant,,ENST00000434288,;RAD50,non_coding_transcript_exon_variant,,ENST00000496204,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,3_prime_UTR_variant,,ENST00000423956,;							MODERATE	1786/3522	M735V	RAD50_HUMAN			Transcript		benign(0)	.	ENSP00000368100					1	
NSRP1	0	LGGM	GRCh37	17	28511632	28511632	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	18	12	.	.	ENST00000247026.5:c.618-1G>T		p.X206_splice	ENST00000247026	NM_032141.3			0	1	1	UPI000006E653	0		ENST00000247026		ENSG00000126653	25305		30			HGNC	-		NSRP1		SNV							ENST00000247026	protein_coding							T		-/2541				K7ERM9_HUMAN,K7EMD8_HUMAN,K7EK40_HUMAN			YES	NSRP1,splice_acceptor_variant,,ENST00000247026,NM_032141.3,NM_001261467.1;NSRP1,splice_acceptor_variant,,ENST00000580103,;NSRP1,splice_acceptor_variant,,ENST00000540900,;NSRP1,downstream_gene_variant,,ENST00000577289,;NSRP1,splice_acceptor_variant,,ENST00000394826,;NSRP1,splice_acceptor_variant,,ENST00000475652,;							HIGH	618/1677		NSRP1_HUMAN			Transcript			.	ENSP00000247026		CCDS11255.1			1	
FAHD1	0	LGGM	GRCh37	16	1877833	1877833	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	27	12	.	.	ENST00000382666.4:c.603A>C	p.Glu201Asp	p.E201D	ENST00000382666	NM_001018104.2	201	gaA/gaC	0	1		UPI0000037BCE	0	getma.org/pdb.php?prot=FAHD1_HUMAN&from=18&to=220&var=E201D	ENST00000427358		ENSG00000180185	14169		39	-0.25		HGNC	p.E201D		FAHD1		SNV							ENST00000382666	protein_coding	getma.org/?cm=var&var=hg19,16,1877833,A,C&fts=all		hmmpanther:PTHR11820,hmmpanther:PTHR11820:SF7,Pfam_domain:PF01557,Gene3D:3.90.850.10,Superfamily_domains:SSF56529		E/D		C	neutral	609/1684		getma.org/?cm=msa&ty=f&p=FAHD1_HUMAN&rb=18&re=220&var=E201D	tolerated(0.44)					FAHD1,missense_variant,p.Glu201Asp,ENST00000382666,NM_001018104.2;FAHD1,missense_variant,p.Glu201Asp,ENST00000382668,NM_001142398.1;FAHD1,missense_variant,p.Glu201Asp,ENST00000427358,NM_031208.3;HAGH,upstream_gene_variant,,ENST00000397356,NM_005326.4;HAGH,upstream_gene_variant,,ENST00000566709,;HAGH,upstream_gene_variant,,ENST00000455446,NM_001286249.1;HAGH,upstream_gene_variant,,ENST00000397353,NM_001040427.1;HAGH,upstream_gene_variant,,ENST00000564445,;HAGH,upstream_gene_variant,,ENST00000569339,;HAGH,upstream_gene_variant,,ENST00000569700,;HAGH,upstream_gene_variant,,ENST00000565097,;HAGH,upstream_gene_variant,,ENST00000564518,;HAGH,upstream_gene_variant,,ENST00000567190,;							MODERATE	603/675	E201D	FAHD1_HUMAN			Transcript		benign(0)	.	ENSP00000398053		CCDS10448.1			1	
SNRK	0	LGGM	GRCh37	3	43344739	43344739	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	19	12	.	.	ENST00000296088.7:c.44T>G	p.Leu15Ter	p.L15*	ENST00000296088	NM_017719.4	15	tTa/tGa	0	1	1	UPI00000558E4	0	NA	ENST00000296088		ENSG00000163788	30598		31	0		HGNC	p.L15X		SNRK		SNV							ENST00000454177	protein_coding	getma.org/?cm=var&var=hg19,3,43344739,T,G&fts=all		hmmpanther:PTHR24343:SF135,hmmpanther:PTHR24343,Gene3D:3.30.200.20,Superfamily_domains:SSF56112		L/*		G	NA	348/5183		NA		E7EUC4_HUMAN			YES	SNRK,stop_gained,p.Leu15Ter,ENST00000296088,NM_017719.4;SNRK,stop_gained,p.Leu15Ter,ENST00000429705,NM_001100594.1;SNRK,stop_gained,p.Leu15Ter,ENST00000454177,;SNRK,intron_variant,,ENST00000437827,;SNRK,non_coding_transcript_exon_variant,,ENST00000462810,;							HIGH	44/2298	L15*	SNRK_HUMAN			Transcript			.	ENSP00000296088		CCDS43075.1			1	
C5orf42	0	LGGM	GRCh37	5	37121732	37121732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	16	13	.	.	ENST00000425232.2:c.9010C>T	p.Pro3004Ser	p.P3004S	ENST00000425232	NM_023073.3	3004	Cct/Tct	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		29	0		HGNC	p.P1902S		C5orf42		SNV			1				ENST00000274258	protein_coding	getma.org/?cm=var&var=hg19,5,37121732,G,A&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2,Pfam_domain:PF15392		P/S		A	neutral	9241/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=1731&re=1930&var=P1902S	tolerated(0.94)				YES	C5orf42,missense_variant,p.Pro1902Ser,ENST00000274258,;C5orf42,missense_variant,p.Pro3004Ser,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Pro3004Ser,ENST00000508244,;C5orf42,missense_variant,p.Pro2070Ser,ENST00000514429,;C5orf42,non_coding_transcript_exon_variant,,ENST00000512288,;C5orf42,3_prime_UTR_variant,,ENST00000509849,;C5orf42,downstream_gene_variant,,ENST00000509957,;							MODERATE	9010/9594	P1902S	CE042_HUMAN			Transcript		benign(0.011)	.	ENSP00000389014		CCDS34146.2			1	
ACAN	0	LGGM	GRCh37	15	89417180	89417180	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	27	13	.	.	ENST00000439576.2:c.7441G>T	p.Val2481Phe	p.V2481F	ENST00000439576	NM_013227.3	2481	Gtc/Ttc	0	1	1	UPI0001B23381	0	getma.org/pdb.php?prot=PGCA_HUMAN&from=2332&to=2388&var=V2366F	ENST00000439576		ENSG00000157766	319		40	1.02		HGNC	p.V2481F		ACAN		SNV			1				ENST00000439576	protein_coding	getma.org/?cm=var&var=hg19,15,89417180,G,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42,SMART_domains:SM00032,Superfamily_domains:SSF57535		V/F		T	low	7815/8840		getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=2332&re=2388&var=V2366F	deleterious(0.01)	Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,missense_variant,p.Val2481Phe,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Val2443Phe,ENST00000559004,;ACAN,missense_variant,p.Val2481Phe,ENST00000561243,;ACAN,missense_variant,p.Val56Phe,ENST00000558704,;ACAN,intron_variant,,ENST00000352105,NM_001135.3;HAPLN3,downstream_gene_variant,,ENST00000359595,NM_178232.2;HAPLN3,downstream_gene_variant,,ENST00000562889,;ACAN,downstream_gene_variant,,ENST00000560601,;ACAN,non_coding_transcript_exon_variant,,ENST00000558604,;HAPLN3,downstream_gene_variant,,ENST00000558770,;							MODERATE	7441/7593	V2366F				Transcript		probably_damaging(0.969)	.	ENSP00000387356		CCDS53970.1			1	
ZNF397	0	LGGM	GRCh37	18	32825841	32825841	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	21	14	.	.	ENST00000330501.7:c.1172A>C	p.His391Pro	p.H391P	ENST00000330501	NM_001135178.2	391	cAc/cCc	0	1	1	UPI000000D7E4	0	getma.org/pdb.php?prot=ZN397_HUMAN&from=383&to=408&var=H391P	ENST00000330501		ENSG00000186812	18818		35	3.745		HGNC	p.H391P		ZNF397		SNV							ENST00000330501	protein_coding	getma.org/?cm=var&var=hg19,18,32825841,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/P		C	high	1325/2637		getma.org/?cm=msa&ty=f&p=ZN397_HUMAN&rb=363&re=428&var=H391P	deleterious(0)	M0R288_HUMAN			YES	ZNF397,missense_variant,p.His391Pro,ENST00000330501,NM_001135178.2;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000261333,NM_032347.2;ZNF397,intron_variant,,ENST00000592264,;ZNF397,downstream_gene_variant,,ENST00000585800,;ZNF397,downstream_gene_variant,,ENST00000591206,;ZNF397,downstream_gene_variant,,ENST00000588119,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZNF397,intron_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;							MODERATE	1172/1605	H391P	ZN397_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000331577		CCDS45852.1			1	
XYLT1	0	LGGM	GRCh37	16	17211757	17211757	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	28	14	.	.	ENST00000261381.6:c.2303G>A	p.Gly768Asp	p.G768D	ENST00000261381	NM_022166.3	768	gGt/gAt	0	1	1	UPI000000DCCE	0	NA	ENST00000261381		ENSG00000103489	15516		42	1.61		HGNC	p.G768D		XYLT1		SNV			1				ENST00000261381	protein_coding	getma.org/?cm=var&var=hg19,16,17211757,C,T&fts=all		Pfam_domain:PF12529,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91		G/D		T	low	2388/9891		getma.org/?cm=msa&ty=f&p=XYLT1_HUMAN&rb=613&re=794&var=G768D	deleterious(0.02)				YES	XYLT1,missense_variant,p.Gly768Asp,ENST00000261381,NM_022166.3;							MODERATE	2303/2880	G768D	XYLT1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000261381		CCDS10569.1			1	
COL22A1	0	LGGM	GRCh37	8	139845315	139845315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	36	14	.	.	ENST00000303045.6:c.812G>T	p.Arg271Leu	p.R271L	ENST00000303045	NM_152888.1	271	cGg/cTg	0	1	1	UPI00001C1EA1	0	getma.org/pdb.php?prot=COMA1_HUMAN&from=231&to=449&var=R271L	ENST00000303045		ENSG00000169436	22989		50	1.965		HGNC	p.R271L		COL22A1		SNV							ENST00000435777	protein_coding	getma.org/?cm=var&var=hg19,8,139845315,C,A&fts=all		SMART_domains:SM00210,Superfamily_domains:SSF49899		R/L		A	medium	1259/6346		getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=231&re=449&var=R271L					YES	COL22A1,missense_variant,p.Arg271Leu,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Arg271Leu,ENST00000435777,;COL22A1,upstream_gene_variant,,ENST00000517515,;							MODERATE	812/4881	R271L	COMA1_HUMAN			Transcript		unknown(0)	.	ENSP00000303153		CCDS6376.1			1	
INSL4	0	LGGM	GRCh37	9	5233834	5233834	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	33	14	.	.	ENST00000239316.4:c.377A>T	p.Glu126Val	p.E126V	ENST00000239316	NM_002195.1	126	gAa/gTa	0	1	1	UPI0000032F5A	0	NA	ENST00000239316		ENSG00000120211	6087		47	0		HGNC	p.E126V		INSL4		SNV							ENST00000239316	protein_coding	getma.org/?cm=var&var=hg19,9,5233834,A,T&fts=all		Prints_domain:PR02033,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF3		E/V		T	neutral	482/1952		getma.org/?cm=msa&ty=f&p=INSL4_HUMAN&rb=1&re=139&var=E126V	deleterious(0.01)				YES	INSL4,missense_variant,p.Glu126Val,ENST00000239316,NM_002195.1;							MODERATE	377/420	E126V	INSL4_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000239316		CCDS6459.1			1	
NEDD4	0	LGGM	GRCh37	15	56144663	56144663	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	30	14	.	.	ENST00000338963.2:c.2146C>G	p.His716Asp	p.H716D	ENST00000338963	NM_198400.2	716	Cac/Gac	0	1		UPI00001FE52D	0	getma.org/pdb.php?prot=NEDD4_HUMAN&from=769&to=798&var=H788D	ENST00000508342		ENSG00000069869	7727		44	3.365		HGNC	p.H788D		NEDD4		SNV							ENST00000508342	protein_coding	getma.org/?cm=var&var=hg19,15,56144663,G,C&fts=all		Gene3D:2.20.70.10,Pfam_domain:PF00397,PROSITE_patterns:PS01159,PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF282,SMART_domains:SM00456,Superfamily_domains:SSF51045		H/D		C	medium	2662/7235		getma.org/?cm=msa&ty=f&p=NEDD4_HUMAN&rb=769&re=798&var=H788D	deleterious(0)					NEDD4,missense_variant,p.His788Asp,ENST00000508342,NM_001284338.1;NEDD4,missense_variant,p.His716Asp,ENST00000338963,NM_198400.2;NEDD4,missense_variant,p.His772Asp,ENST00000506154,NM_001284339.1;NEDD4,missense_variant,p.His369Asp,ENST00000435532,NM_006154.2;NEDD4,missense_variant,p.His379Asp,ENST00000508871,NM_001284340.1;NEDD4,3_prime_UTR_variant,,ENST00000503468,;							MODERATE	2362/3960	H788D	NEDD4_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000424827		CCDS61644.1			1	
MMRN1	0	LGGM	GRCh37	4	90857247	90857247	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	28	14	.	.	ENST00000394980.1:c.2416C>G	p.Leu806Val	p.L806V	ENST00000394980		806	Ctt/Gtt	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		42	2.045		HGNC	p.L548V		MMRN1		SNV							ENST00000508372	protein_coding	getma.org/?cm=var&var=hg19,4,90857247,C,G&fts=all		hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427		L/V		G	medium	2487/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=380&re=944&var=L806V	deleterious(0.03)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Leu806Val,ENST00000394980,;MMRN1,missense_variant,p.Leu806Val,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Leu548Val,ENST00000508372,;MMRN1,intron_variant,,ENST00000394981,;							MODERATE	2416/3687	L806V	MMRN1_HUMAN			Transcript		possibly_damaging(0.619)	.	ENSP00000264790		CCDS3635.1			1	
TNRC6B	0	LGGM	GRCh37	22	40696944	40696944	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	27	14	.	.	ENST00000454349.2:c.3871C>T	p.Gln1291Ter	p.Q1291*	ENST00000454349	NM_001162501.1	1291	Cag/Tag	0	1	1	UPI00017A6F19	0	NA	ENST00000454349		ENSG00000100354	29190		41	0		HGNC	p.Q1291X		TNRC6B		SNV							ENST00000454349	protein_coding	getma.org/?cm=var&var=hg19,22,40696944,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		Q/*		T	NA	4082/18279		NA					YES	TNRC6B,stop_gained,p.Gln1291Ter,ENST00000454349,NM_001162501.1;TNRC6B,stop_gained,p.Gln1181Ter,ENST00000335727,NM_015088.2;TNRC6B,stop_gained,p.Gln487Ter,ENST00000301923,NM_001024843.1;TNRC6B,stop_gained,p.Gln977Ter,ENST00000446273,;TNRC6B,stop_gained,p.Gln487Ter,ENST00000402203,;TNRC6B,downstream_gene_variant,,ENST00000497559,;TNRC6B,non_coding_transcript_exon_variant,,ENST00000467658,;							HIGH	3871/5502	Q1291*	TNR6B_HUMAN			Transcript			.	ENSP00000401946		CCDS54533.1			1	
MED1	0	LGGM	GRCh37	17	37565971	37565971	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	28	14	.	.	ENST00000300651.6:c.2503T>G	p.Tyr835Asp	p.Y835D	ENST00000300651	NM_004774.3	835	Tac/Gac	0	1	1	UPI0000167F57	0	NA	ENST00000300651		ENSG00000125686	9234		42	0.55		HGNC	p.Y835D		MED1		SNV							ENST00000300651	protein_coding	getma.org/?cm=var&var=hg19,17,37565971,A,C&fts=all		hmmpanther:PTHR12881		Y/D		C	neutral	2727/5844		getma.org/?cm=msa&ty=f&p=MED1_HUMAN&rb=670&re=1228&var=Y835D	deleterious_low_confidence(0)				YES	MED1,missense_variant,p.Tyr835Asp,ENST00000300651,NM_004774.3;MED1,intron_variant,,ENST00000394287,;CTB-131K11.1,downstream_gene_variant,,ENST00000582842,;MED1,3_prime_UTR_variant,,ENST00000577831,;							MODERATE	2503/4746	Y835D	MED1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000300651		CCDS11336.1			1	
MED1	0	LGGM	GRCh37	17	37565990	37565990	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	27	15	.	.	ENST00000300651.6:c.2484T>G	p.Thr828=	p.T828=	ENST00000300651	NM_004774.3	828	acT/acG	0	1	1	UPI0000167F57	0		ENST00000300651		ENSG00000125686	9234		42			HGNC	p.T828T		MED1		SNV							ENST00000300651	protein_coding			hmmpanther:PTHR12881		T		C		2708/5844							YES	MED1,synonymous_variant,p.=,ENST00000300651,NM_004774.3;MED1,intron_variant,,ENST00000394287,;CTB-131K11.1,downstream_gene_variant,,ENST00000582842,;MED1,3_prime_UTR_variant,,ENST00000577831,;							LOW	2484/4746		MED1_HUMAN			Transcript			.	ENSP00000300651		CCDS11336.1			1	
EML4	0	LGGM	GRCh37	2	42530259	42530259	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	38	17	.	.	ENST00000318522.5:c.1657G>T	p.Gly553Cys	p.G553C	ENST00000318522	NM_019063.3	553	Ggc/Tgc	0	1	1	UPI0000140350	0	NA	ENST00000318522		ENSG00000143924	1316		55	2.845		HGNC	p.G553C		EML4		SNV			1				ENST00000318522	protein_coding	getma.org/?cm=var&var=hg19,2,42530259,G,T&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11,Superfamily_domains:SSF50998		G/C		T	medium	1919/5549		getma.org/?cm=msa&ty=f&p=EMAL4_HUMAN&rb=530&re=584&var=G553C	deleterious(0.01)	F2Z2B5_HUMAN			YES	EML4,missense_variant,p.Gly553Cys,ENST00000318522,NM_019063.3;EML4,missense_variant,p.Gly564Cys,ENST00000401738,;EML4,missense_variant,p.Gly495Cys,ENST00000402711,NM_001145076.1;EML4,5_prime_UTR_variant,,ENST00000453191,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;							MODERATE	1657/2946	G553C	EMAL4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000320663		CCDS1807.1			1	
GNPDA1	0	LGGM	GRCh37	5	141382807	141382807	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	15	18	.	.	ENST00000508177.1:c.615T>G	p.Gly205=	p.G205=	ENST00000508177		205	ggT/ggG	0	1		UPI000004D014	0		ENST00000311337		ENSG00000113552	4417		33			HGNC	p.G205G		GNPDA1		SNV							ENST00000311337	protein_coding			HAMAP:MF_01241,hmmpanther:PTHR11280,hmmpanther:PTHR11280:SF3,TIGRFAM_domain:TIGR00502,Gene3D:3.40.50.1360,Pfam_domain:PF01182,Superfamily_domains:SSF100950		G		C		658/2273				D6RFK5_HUMAN,D6RB13_HUMAN,D6R917_HUMAN				GNPDA1,synonymous_variant,p.=,ENST00000508177,;GNPDA1,synonymous_variant,p.=,ENST00000503794,;GNPDA1,synonymous_variant,p.=,ENST00000500692,;GNPDA1,synonymous_variant,p.=,ENST00000311337,NM_005471.4;GNPDA1,synonymous_variant,p.=,ENST00000458112,;GNPDA1,synonymous_variant,p.=,ENST00000542860,;GNPDA1,synonymous_variant,p.=,ENST00000513454,;GNPDA1,synonymous_variant,p.=,ENST00000505689,;GNPDA1,intron_variant,,ENST00000504139,;GNPDA1,downstream_gene_variant,,ENST00000510194,;GNPDA1,downstream_gene_variant,,ENST00000503229,;GNPDA1,non_coding_transcript_exon_variant,,ENST00000515747,;GNPDA1,downstream_gene_variant,,ENST00000507107,;GNPDA1,downstream_gene_variant,,ENST00000507559,;							LOW	615/870		GNPI1_HUMAN			Transcript			.	ENSP00000311876		CCDS4272.1			1	
ZNF530	0	LGGM	GRCh37	19	58118472	58118472	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	43	19	.	.	ENST00000332854.6:c.1579T>C	p.Ser527Pro	p.S527P	ENST00000332854	NM_020880.3	527	Tcc/Ccc	0	1	1	UPI0000199017	0	getma.org/pdb.php?prot=ZN530_HUMAN&from=505&to=530&var=S527P	ENST00000332854		ENSG00000183647	29297		62	1.285		HGNC	p.S527P		ZNF530		SNV							ENST00000600619	protein_coding	getma.org/?cm=var&var=hg19,19,58118472,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF38,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/P		C	low	1799/2962		getma.org/?cm=msa&ty=f&p=ZN530_HUMAN&rb=485&re=550&var=S527P	tolerated(0.13)	M0R1P0_HUMAN			YES	ZNF530,missense_variant,p.Ser527Pro,ENST00000332854,NM_020880.3;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,;ZNF530,missense_variant,p.Ser527Pro,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,;							MODERATE	1579/1800	S527P	ZN530_HUMAN			Transcript		possibly_damaging(0.749)	.	ENSP00000332861		CCDS12955.1			1	
UBAC1	0	LGGM	GRCh37	9	138836997	138836997	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	16	19	.	.	ENST00000371756.3:c.753G>A	p.Gly251=	p.G251=	ENST00000371756	NM_016172.2	251	ggG/ggA	0	1	1	UPI0000070A05	0		ENST00000371756		ENSG00000130560	30221		35			HGNC	p.G251G		UBAC1		SNV							ENST00000371756	protein_coding			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF31,Low_complexity_(Seg):seg		G		T		971/1867							YES	UBAC1,synonymous_variant,p.=,ENST00000371756,NM_016172.2;UBAC1,non_coding_transcript_exon_variant,,ENST00000465873,;UBAC1,non_coding_transcript_exon_variant,,ENST00000471163,;UBAC1,upstream_gene_variant,,ENST00000489050,;UBAC1,downstream_gene_variant,,ENST00000478485,;UBAC1,downstream_gene_variant,,ENST00000486258,;							LOW	753/1218		UBAC1_HUMAN			Transcript			.	ENSP00000360821		CCDS35177.1			1	
SPAG5	0	LGGM	GRCh37	17	26905769	26905769	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	22	21	.	.	ENST00000321765.5:c.3119A>G	p.Asn1040Ser	p.N1040S	ENST00000321765	NM_006461.3	1040	aAt/aGt	0	1	1	UPI0000073414	0	NA	ENST00000321765		ENSG00000076382	13452		43	0.695		HGNC	p.N1040S		SPAG5		SNV							ENST00000321765	protein_coding	getma.org/?cm=var&var=hg19,17,26905769,T,C&fts=all		hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0		N/S		C	neutral	3452/4040		getma.org/?cm=msa&ty=f&p=SPAG5_HUMAN&rb=318&re=1191&var=N1040S	tolerated(0.12)				YES	SPAG5,missense_variant,p.Asn1040Ser,ENST00000321765,NM_006461.3;SPAG5,missense_variant,p.Asn53Ser,ENST00000582076,;ALDOC,upstream_gene_variant,,ENST00000226253,NM_005165.2;ALDOC,upstream_gene_variant,,ENST00000395321,;ALDOC,upstream_gene_variant,,ENST00000395319,;RP11-192H23.4,downstream_gene_variant,,ENST00000531839,;ALDOC,upstream_gene_variant,,ENST00000460201,;ALDOC,upstream_gene_variant,,ENST00000578590,;ALDOC,upstream_gene_variant,,ENST00000584086,;ALDOC,upstream_gene_variant,,ENST00000581807,;ALDOC,upstream_gene_variant,,ENST00000435638,;RP11-192H23.5,downstream_gene_variant,,ENST00000585189,;SPAG5,splice_region_variant,,ENST00000580676,;SPAG5,splice_region_variant,,ENST00000581133,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,downstream_gene_variant,,ENST00000580083,;SPAG5,downstream_gene_variant,,ENST00000580406,;SPAG5,downstream_gene_variant,,ENST00000378976,;SPAG5,upstream_gene_variant,,ENST00000582175,;SPAG5,downstream_gene_variant,,ENST00000577259,;SPAG5,downstream_gene_variant,,ENST00000580682,;ALDOC,upstream_gene_variant,,ENST00000582381,;SPAG5,upstream_gene_variant,,ENST00000580377,;SPAG5,downstream_gene_variant,,ENST00000578230,;							MODERATE	3119/3582	N1040S	SPAG5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000323300		CCDS32594.1			1	
ICOSLG	0	LGGM	GRCh37	21	45656761	45656761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	46	23	.	.	ENST00000407780.3:c.395T>A	p.Leu132Gln	p.L132Q	ENST00000407780	NM_001283052.1	132	cTg/cAg	0	1	1	UPI0000049DCB	0	getma.org/pdb.php?prot=ICOSL_HUMAN&from=16&to=132&var=L132Q	ENST00000407780		ENSG00000160223	17087		69	2.25		HGNC	p.L132Q		ICOSLG		SNV							ENST00000344330	protein_coding	getma.org/?cm=var&var=hg19,21,45656761,A,T&fts=all		hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF55,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/Q		T	medium	523/7080		getma.org/?cm=msa&ty=f&p=ICOSL_HUMAN&rb=16&re=132&var=L132Q	deleterious(0)	B7Z1W8_HUMAN,A0N0L8_HUMAN			YES	ICOSLG,missense_variant,p.Leu132Gln,ENST00000407780,NM_001283052.1;ICOSLG,missense_variant,p.Leu132Gln,ENST00000400379,NM_015259.4;ICOSLG,missense_variant,p.Leu132Gln,ENST00000344330,NM_001283050.1;ICOSLG,intron_variant,,ENST00000400377,NM_001283051.1;							MODERATE	395/909	L132Q	ICOSL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000384432		CCDS42952.1			1	
GBA2	0	LGGM	GRCh37	9	35738576	35738576	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	29	24	.	.	ENST00000378103.3:c.2001A>C	p.Glu667Asp	p.E667D	ENST00000378103	NM_020944.2	667	gaA/gaC	0	1	1	UPI0000073FD5	0	NA	ENST00000378103		ENSG00000070610	18986		53	1.935		HGNC	p.E667D		GBA2		SNV			1				ENST00000378094	protein_coding	getma.org/?cm=var&var=hg19,9,35738576,T,G&fts=all		Superfamily_domains:SSF48208,PIRSF_domain:PIRSF028944,Pfam_domain:PF04685,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654		E/D		G	medium	2525/3611		getma.org/?cm=msa&ty=f&p=GBA2_HUMAN&rb=521&re=888&var=E667D	tolerated(0.12)				YES	GBA2,missense_variant,p.Glu667Asp,ENST00000378094,;GBA2,missense_variant,p.Glu667Asp,ENST00000378103,NM_020944.2;GBA2,missense_variant,p.Glu673Asp,ENST00000545786,;GBA2,5_prime_UTR_variant,,ENST00000378088,;CREB3,downstream_gene_variant,,ENST00000353704,NM_006368.4;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,;GBA2,non_coding_transcript_exon_variant,,ENST00000486797,;GBA2,non_coding_transcript_exon_variant,,ENST00000488292,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000485259,;							MODERATE	2001/2784	E667D	GBA2_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000367343		CCDS6589.1			1	
MEP1A	0	LGGM	GRCh37	6	46794225	46794225	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	49	24	.	.	ENST00000230588.4:c.913T>C	p.Leu305=	p.L305=	ENST00000230588	NM_005588.2	305	Ttg/Ctg	0	1	1	UPI000006E4E9	0		ENST00000230588		ENSG00000112818	7015		73			HGNC	p.L305L		MEP1A		SNV							ENST00000230588	protein_coding			Pfam_domain:PF00629,PIRSF_domain:PIRSF001196,PROSITE_profiles:PS50060,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,SMART_domains:SM00137,Superfamily_domains:SSF49899		L		C		922/2892							YES	MEP1A,synonymous_variant,p.=,ENST00000230588,NM_005588.2;							LOW	913/2241		MEP1A_HUMAN			Transcript			.	ENSP00000230588		CCDS4918.1			1	
IGF2BP1	0	LGGM	GRCh37	17	47122408	47122408	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	41	26	.	.	ENST00000290341.3:c.1376C>T	p.Pro459Leu	p.P459L	ENST00000290341	NM_006546.3	459	cCg/cTg	0	1	1	UPI0000117170	0	getma.org/pdb.php?prot=IF2B1_HUMAN&from=407&to=470&var=P459L	ENST00000290341		ENSG00000159217	28866		67	1.885		HGNC	p.P459L	rs751061699	IGF2BP1		SNV							ENST00000290341	protein_coding	getma.org/?cm=var&var=hg19,17,47122408,C,T&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF136,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791		P/L		T	low	1710/8274		getma.org/?cm=msa&ty=f&p=IF2B1_HUMAN&rb=407&re=470&var=P459L	deleterious(0)	D3DTW3_HUMAN			YES	IGF2BP1,missense_variant,p.Pro459Leu,ENST00000290341,NM_006546.3;IGF2BP1,missense_variant,p.Pro320Leu,ENST00000431824,NM_001160423.1;AC105030.1,upstream_gene_variant,,ENST00000578722,;	0.000231						MODERATE	1376/1734	P459L	IF2B1_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000290341	1.65E-05	CCDS11543.1			1	
ZNF626	0	LGGM	GRCh37	19	20807544	20807544	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	39	28	.	.	ENST00000601440.1:c.1139G>T	p.Arg380Leu	p.R380L	ENST00000601440	NM_001076675.2	380	cGg/cTg	0	1	1	UPI000035E843	0	getma.org/pdb.php?prot=ZN626_HUMAN&from=355&to=380&var=R380L	ENST00000601440		ENSG00000188171	30461		67	1.635		HGNC	p.R380L	COSM1189963	ZNF626		SNV						1	ENST00000601440	protein_coding	getma.org/?cm=var&var=hg19,19,20807544,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/L		A	low	1286/5963		getma.org/?cm=msa&ty=f&p=ZN626_HUMAN&rb=335&re=400&var=R380L	tolerated(0.72)	M0QY39_HUMAN,I0CMK8_HUMAN			YES	ZNF626,missense_variant,p.Arg380Leu,ENST00000601440,NM_001076675.2;ZNF626,downstream_gene_variant,,ENST00000595405,;CTC-513N18.7,intron_variant,,ENST00000595094,;					1		MODERATE	1139/1587	R380L	ZN626_HUMAN			Transcript		benign(0.087)	.	ENSP00000469958		CCDS42535.1			1	
OR4C13	0	LGGM	GRCh37	11	49974300	49974300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	40	31	.	.	ENST00000555099.1:c.326A>G	p.Glu109Gly	p.E109G	ENST00000555099	NM_001001955.2	109	gAg/gGg	0	1	1	UPI000013F7D1	0	getma.org/pdb.php?prot=OR4CD_HUMAN&from=1&to=136&var=E109G	ENST00000555099		ENSG00000258817	15169		71	3.485		HGNC	p.E109G	rs782140354	OR4C13		SNV							ENST00000555099	protein_coding	getma.org/?cm=var&var=hg19,11,49974300,A,G&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF60,Superfamily_domains:SSF81321		E/G		G	medium	358/1029		getma.org/?cm=msa&ty=f&p=OR4CD_HUMAN&rb=1&re=136&var=E109G	tolerated_low_confidence(0.06)				YES	OR4C13,missense_variant,p.Glu109Gly,ENST00000555099,NM_001001955.2;							MODERATE	326/930	E109G	OR4CD_HUMAN			Transcript		benign(0.078)	.	ENSP00000452277		CCDS31495.1			1	
OR4K5	0	LGGM	GRCh37	14	20389109	20389109	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	90	33	.	.	ENST00000315915.4:c.344T>A	p.Leu115His	p.L115H	ENST00000315915	NM_001005483.1	115	cTt/cAt	0	1	1	UPI0000061E9E	0	getma.org/pdb.php?prot=OR4K5_HUMAN&from=1&to=138&var=L115H	ENST00000315915		ENSG00000176281	14745		123	4.695		HGNC	p.L115H		OR4K5		SNV							ENST00000315915	protein_coding	getma.org/?cm=var&var=hg19,14,20389109,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/H		A	high	369/1078		getma.org/?cm=msa&ty=f&p=OR4K5_HUMAN&rb=1&re=138&var=L115H	deleterious(0)				YES	OR4K5,missense_variant,p.Leu115His,ENST00000315915,NM_001005483.1;							MODERATE	344/972	L115H	OR4K5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000319511		CCDS32024.1			1	
HSP90AA1	0	LGGM	GRCh37	14	102548703	102548703	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	57	36	.	.	ENST00000334701.7:c.2200A>G	p.Arg734Gly	p.R734G	ENST00000334701	NM_001017963.2	734	Aga/Gga	0	1		UPI0000163B5F	0	getma.org/pdb.php?prot=HS90A_HUMAN&from=196&to=732&var=R612G	ENST00000216281		ENSG00000080824	5253		93	4.28		HGNC	p.R612G		HSP90AA1		SNV							ENST00000216281	protein_coding	getma.org/?cm=var&var=hg19,14,102548703,T,C&fts=all		HAMAP:MF_00505,hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,Superfamily_domains:0043579		R/G		C	high	2040/3379		getma.org/?cm=msa&ty=f&p=HS90A_HUMAN&rb=196&re=732&var=R612G	deleterious(0)	Q96HX7_HUMAN,Q8TBA7_HUMAN,K9JA46_HUMAN				HSP90AA1,missense_variant,p.Arg734Gly,ENST00000334701,NM_001017963.2;HSP90AA1,missense_variant,p.Arg612Gly,ENST00000216281,NM_005348.3;HSP90AA1,downstream_gene_variant,,ENST00000441629,;HSP90AA1,downstream_gene_variant,,ENST00000553585,;RN7SL472P,upstream_gene_variant,,ENST00000492799,;HSP90AA1,downstream_gene_variant,,ENST00000554401,;HSP90AA1,downstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000560130,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;							MODERATE	1834/2199	R612G	HS90A_HUMAN			Transcript		unknown(0)	.	ENSP00000216281		CCDS9967.1			1	
NSD1	0	LGGM	GRCh37	5	176638055	176638055	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	33	38	.	.	ENST00000439151.2:c.2655A>G	p.Ser885=	p.S885=	ENST00000439151	NM_022455.4	885	tcA/tcG	0	1	1	UPI000006F9C6	0		ENST00000439151		ENSG00000165671	14234		71			HGNC	p.S616S		NSD1		SNV			1				ENST00000354179	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312		S		G		2700/12892				Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,synonymous_variant,p.=,ENST00000439151,NM_022455.4;NSD1,synonymous_variant,p.=,ENST00000361032,;NSD1,synonymous_variant,p.=,ENST00000354179,NM_172349.2;NSD1,synonymous_variant,p.=,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;							LOW	2655/8091		NSD1_HUMAN			Transcript			.	ENSP00000395929		CCDS4412.1			1	
ESPL1	0	LGGM	GRCh37	12	53680179	53680179	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	46	38	.	.	ENST00000257934.4:c.3659A>T	p.Asp1220Val	p.D1220V	ENST00000257934	NM_012291.4	1220	gAt/gTt	0	1	1	UPI00003668C3	0	NA	ENST00000257934		ENSG00000135476	16856		84	2.015		HGNC	p.D1220V		ESPL1		SNV							ENST00000552462	protein_coding	getma.org/?cm=var&var=hg19,12,53680179,A,T&fts=all		hmmpanther:PTHR12792		D/V		T	medium	3750/6623		getma.org/?cm=msa&ty=f&p=ESPL1_HUMAN&rb=1&re=1299&var=D1220V	deleterious(0)	H3BRX7_HUMAN			YES	ESPL1,missense_variant,p.Asp1220Val,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Asp1220Val,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,intron_variant,,ENST00000553016,;ESPL1,intron_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000549154,;ESPL1,upstream_gene_variant,,ENST00000552600,;							MODERATE	3659/6363	D1220V	ESPL1_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000257934		CCDS8852.1			1	
CDH18	0	LGGM	GRCh37	5	19473582	19473582	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	25	38	.	.	ENST00000507958.1:c.2126G>A	p.Ser709Asn	p.S709N	ENST00000507958		709	aGc/aAc	0	1		UPI0000126DBD	0	getma.org/pdb.php?prot=CAD18_HUMAN&from=637&to=784&var=S709N	ENST00000274170		ENSG00000145526	1757		63	-0.46		HGNC	p.S709N		CDH18		SNV							ENST00000274170	protein_coding	getma.org/?cm=var&var=hg19,5,19473582,C,T&fts=all		hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10		S/N		T	neutral	2638/2885		getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=637&re=784&var=S709N	tolerated(0.98)					CDH18,missense_variant,p.Ser709Asn,ENST00000507958,;CDH18,missense_variant,p.Ser709Asn,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Ser709Asn,ENST00000274170,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;							MODERATE	2126/2373	S709N	CAD18_HUMAN			Transcript		benign(0.003)	.	ENSP00000274170		CCDS3889.1			1	
LRRC9	0	LGGM	GRCh37	14	60433885	60433885	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	56	40	.	.	ENST00000445360.1:c.1460T>C	p.Leu487Pro	p.L487P	ENST00000445360		487	cTt/cCt	0	1	1	UPI000173AA0B	0		ENST00000445360		ENSG00000131951	19848		96			HGNC	p.L487P		LRRC9		SNV							ENST00000445360	protein_coding			Gene3D:3.90.228.10,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF223		L/P		C		1664/4717			tolerated(0.12)	H3BUS4_HUMAN			YES	LRRC9,missense_variant,p.Leu487Pro,ENST00000445360,;RP11-16B13.1,downstream_gene_variant,,ENST00000554123,;RP11-16B13.1,downstream_gene_variant,,ENST00000555432,;LRRC9,missense_variant,p.Leu487Pro,ENST00000254271,;							MODERATE	1460/4362		LRRC9_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000454748					1	
P2RY13	0	LGGM	GRCh37	3	151046117	151046117	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	41	40	.	.	ENST00000325602.5:c.727A>G	p.Lys243Glu	p.K243E	ENST00000325602	NM_176894.2	243	Aaa/Gaa	0	1	1	UPI000020A470	0	getma.org/pdb.php?prot=P2Y13_HUMAN&from=61&to=317&var=K243E	ENST00000325602		ENSG00000181631	4537		81	1.01		HGNC	p.K243E		P2RY13		SNV							ENST00000325602	protein_coding	getma.org/?cm=var&var=hg19,3,151046117,T,C&fts=all		Prints_domain:PR01735,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF7,PROSITE_profiles:PS50262,Low_complexity_(Seg):seg		K/E		C	low	747/2764		getma.org/?cm=msa&ty=f&p=P2Y13_HUMAN&rb=61&re=317&var=K243E	deleterious(0)				YES	P2RY13,missense_variant,p.Lys243Glu,ENST00000325602,NM_176894.2;MED12L,intron_variant,,ENST00000474524,NM_053002.4;MED12L,intron_variant,,ENST00000273432,;MED12L,intron_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;							MODERATE	727/1065	K243E	P2Y13_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000320376		CCDS3158.2			1	
MYO1A	0	LGGM	GRCh37	12	57430599	57430599	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072103	H072103N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	79	41	.	.	ENST00000442789.2:c.2231A>G	p.Lys744Arg	p.K744R	ENST00000442789	NM_001256041.1	744	aAg/aGg	0	1		UPI000012FAC2	0	NA	ENST00000300119		ENSG00000166866	7595		120	0.65		HGNC	p.K582R		MYO1A		SNV			1				ENST00000554234	protein_coding	getma.org/?cm=var&var=hg19,12,57430599,T,C&fts=all		PROSITE_profiles:PS50096,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,SMART_domains:SM00015,Superfamily_domains:SSF52540		K/R		C	neutral	2482/3621		getma.org/?cm=msa&ty=f&p=MYO1A_HUMAN&rb=724&re=784&var=K744R	tolerated(0.46)	Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN				MYO1A,missense_variant,p.Lys744Arg,ENST00000442789,NM_001256041.1;MYO1A,missense_variant,p.Lys744Arg,ENST00000300119,NM_005379.3;MYO1A,missense_variant,p.Lys582Arg,ENST00000544473,;MYO1A,downstream_gene_variant,,ENST00000492945,;MYO1A,downstream_gene_variant,,ENST00000476795,;MYO1A,missense_variant,p.Lys582Arg,ENST00000554234,;							MODERATE	2231/3132	K744R	MYO1A_HUMAN			Transcript		benign(0.012)	.	ENSP00000300119		CCDS8929.1			1	
ZNF860	0	LGGM	GRCh37	3	32032058	32032058	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	71	42	.	.	ENST00000360311.4:c.1487C>G	p.Ala496Gly	p.A496G	ENST00000360311	NM_001137674.2	496	gCc/gGc	0	1	1	UPI0000D61AE9	0	getma.org/pdb.php?prot=ZN860_HUMAN&from=496&to=521&var=A496G	ENST00000360311		ENSG00000197385	34513		113	1.23		HGNC	p.A496G		ZNF860		SNV							ENST00000360311	protein_coding	getma.org/?cm=var&var=hg19,3,32032058,C,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/G		G	low	2036/3098		getma.org/?cm=msa&ty=f&p=ZN860_HUMAN&rb=476&re=541&var=A496G	tolerated(0.39)				YES	ZNF860,missense_variant,p.Ala496Gly,ENST00000360311,NM_001137674.2;OSBPL10,intron_variant,,ENST00000479173,;ZNF860,downstream_gene_variant,,ENST00000489408,;							MODERATE	1487/1899	A496G	ZN860_HUMAN			Transcript		benign(0.016)	.	ENSP00000373274		CCDS46784.1			1	
CLTC	0	LGGM	GRCh37	17	57737846	57737846	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	88	42	.	.	ENST00000269122.3:c.1064A>G	p.Asn355Ser	p.N355S	ENST00000269122	NM_004859.3	355	aAt/aGt	0	1	1	UPI0000127ABD	0	getma.org/pdb.php?prot=CLH1_HUMAN&from=355&to=355&var=N355S	ENST00000269122		ENSG00000141367	2092		130	0.845		HGNC	p.N355S		CLTC		SNV			1				ENST00000269122	protein_coding	getma.org/?cm=var&var=hg19,17,57737846,A,G&fts=all		hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371		N/S		G	low	1338/7760		getma.org/?cm=msa&ty=f&p=CLH1_HUMAN&rb=325&re=385&var=N355S	tolerated(0.33)	Q49AL0_HUMAN			YES	CLTC,missense_variant,p.Asn355Ser,ENST00000269122,NM_004859.3,NM_001288653.1;CLTC,missense_variant,p.Asn355Ser,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,3_prime_UTR_variant,,ENST00000483176,;CLTC,upstream_gene_variant,,ENST00000466513,;CLTC,downstream_gene_variant,,ENST00000472129,;							MODERATE	1064/5028	N355S	CLH1_HUMAN			Transcript		benign(0.003)	.	ENSP00000269122		CCDS32696.1			1	
TOX4	0	LGGM	GRCh37	14	21957426	21957426	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072103	H072103N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	76	43	.	.	ENST00000405508.1:c.674A>C	p.Lys225Thr	p.K225T	ENST00000405508		225	aAa/aCa	0	1		UPI00017A782B	0	getma.org/pdb.php?prot=TOX4_HUMAN&from=223&to=291&var=K225T	ENST00000448790		ENSG00000092203	20161		119	3.4		HGNC	p.K225T		TOX4		SNV							ENST00000262709	protein_coding	getma.org/?cm=var&var=hg19,14,21957426,A,C&fts=all		PROSITE_profiles:PS50118,hmmpanther:PTHR13711:SF143,hmmpanther:PTHR13711,Gene3D:1.10.30.10,Pfam_domain:PF00505,SMART_domains:SM00398,Superfamily_domains:SSF47095		K/T		C	medium	660/2017		getma.org/?cm=msa&ty=f&p=TOX4_HUMAN&rb=223&re=291&var=K225T	deleterious(0)	C9J919_HUMAN,B4DPY8_HUMAN				TOX4,missense_variant,p.Lys225Thr,ENST00000405508,;TOX4,missense_variant,p.Lys225Thr,ENST00000262709,NM_014828.2;TOX4,missense_variant,p.Lys202Thr,ENST00000448790,;TOX4,downstream_gene_variant,,ENST00000416256,;TOX4,downstream_gene_variant,,ENST00000457430,;TOX4,downstream_gene_variant,,ENST00000494242,;TOX4,3_prime_UTR_variant,,ENST00000455393,;TOX4,non_coding_transcript_exon_variant,,ENST00000476180,;TOX4,non_coding_transcript_exon_variant,,ENST00000473176,;TOX4,downstream_gene_variant,,ENST00000447695,;TOX4,upstream_gene_variant,,ENST00000463119,;TOX4,downstream_gene_variant,,ENST00000455138,;TOX4,downstream_gene_variant,,ENST00000487242,;							MODERATE	605/1797	K225T				Transcript		probably_damaging(0.998)	.	ENSP00000393080					1	
GSK3B	0	LGGM	GRCh37	3	119720967	119720967	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	75	46	.	.	ENST00000316626.5:c.208G>T	p.Val70Leu	p.V70L	ENST00000316626		70	Gta/Tta	0	1		UPI000004DAA4	0	getma.org/pdb.php?prot=GSK3B_HUMAN&from=56&to=340&var=V70L	ENST00000264235		ENSG00000082701	4617		121	3.665		HGNC	p.V70L		GSK3B		SNV							ENST00000316626	protein_coding	getma.org/?cm=var&var=hg19,3,119720967,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24057,hmmpanther:PTHR24057:SF8,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/L		A	high	1191/7711		getma.org/?cm=msa&ty=f&p=GSK3B_HUMAN&rb=56&re=340&var=V70L	deleterious(0)	Q6FI27_HUMAN				GSK3B,missense_variant,p.Val70Leu,ENST00000264235,NM_001146156.1,NM_002093.3;GSK3B,missense_variant,p.Val70Leu,ENST00000316626,;							MODERATE	208/1263	V70L	GSK3B_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000264235		CCDS54628.1			1	
PCDHB5	0	LGGM	GRCh37	5	140516893	140516893	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	28	49	.	.	ENST00000231134.5:c.1877C>T	p.Ala626Val	p.A626V	ENST00000231134	NM_015669.2	626	gCc/gTc	0	1	1	UPI00001273E1	0	getma.org/pdb.php?prot=PCDB5_HUMAN&from=574&to=662&var=A626V	ENST00000231134		ENSG00000113209	8690		77	0.93		HGNC	p.A626V		PCDHB5		SNV							ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140516893,C,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		A/V		T	low	2094/2904		getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=574&re=662&var=A626V	deleterious_low_confidence(0.03)				YES	PCDHB5,missense_variant,p.Ala626Val,ENST00000231134,NM_015669.2;							MODERATE	1877/2388	A626V	PCDB5_HUMAN			Transcript		benign(0.308)	.	ENSP00000231134		CCDS4247.1			1	
UGGT1	0	LGGM	GRCh37	2	128941282	128941282	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072103	H072103N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	84	52	.	.	ENST00000259253.6:c.4278G>A	p.Arg1426=	p.R1426=	ENST00000259253	NM_020120.3	1426	agG/agA	0	1	1	UPI00000707D8	0		ENST00000259253		ENSG00000136731	15663		136			HGNC	p.R1426R		UGGT1		SNV							ENST00000259253	protein_coding			Gene3D:3.90.550.10,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3,Superfamily_domains:SSF53448		R		A		4325/10650							YES	UGGT1,synonymous_variant,p.=,ENST00000375990,;UGGT1,synonymous_variant,p.=,ENST00000259253,NM_020120.3;UGGT1,intron_variant,,ENST00000418197,;UGGT1,upstream_gene_variant,,ENST00000465836,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;							LOW	4278/4668		UGGG1_HUMAN			Transcript			.	ENSP00000259253		CCDS2154.1			1	
FAT1	0	LGGM	GRCh37	4	187541725	187541725	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	89	56	.	.	ENST00000441802.2:c.6015G>A	p.Gly2005=	p.G2005=	ENST00000441802	NM_005245.3	2005	ggG/ggA	0	1	1	UPI000051946B	0		ENST00000441802		ENSG00000083857	3595		145			HGNC	p.G2005G		FAT1		SNV							ENST00000441802	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		G		T		6225/14786				D6RCE4_HUMAN			YES	FAT1,synonymous_variant,p.=,ENST00000441802,NM_005245.3;							LOW	6015/13767		FAT1_HUMAN			Transcript			.	ENSP00000406229		CCDS47177.1			1	
HERC1	0	LGGM	GRCh37	15	63967174	63967174	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072103	H072103N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072103N.bam, H072103T.bam	Illumina HiSeq	102	75	.	.	ENST00000443617.2:c.7213G>T	p.Asp2405Tyr	p.D2405Y	ENST00000443617	NM_003922.3	2405	Gac/Tac	0	1	1	UPI0000212760	0	NA	ENST00000443617		ENSG00000103657	4867		177	0.695		HGNC	p.D2405Y		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,63967174,C,A&fts=all		hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870		D/Y		A	neutral	7301/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=2393&re=2592&var=D2405Y		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Asp2405Tyr,ENST00000443617,NM_003922.3;HERC1,missense_variant,p.Asp88Tyr,ENST00000559715,;RP11-317G6.1,upstream_gene_variant,,ENST00000559303,;							MODERATE	7213/14586	D2405Y	HERC1_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000390158		CCDS45277.1			1	
CTD-3193O13.9	0	LGGM	GRCh37	19	7935795	7935863	+	splice_donor_variant,non_coding_transcript_exon_variant,intron_variant	Splice_Site	DEL	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	-	novel	by Submitter	H072441	H072441N.bam	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	6	3	.	.	ENST00000597156.1:n.402+31_432del		p.X134_splice	ENST00000597156				0	1	1	UPI0001DA930F	0		ENST00000539422		ENSG00000183248		0.0192	9			Clone_based_vega_gene	p.40_49del		CTD-3193O13.9	0.0303	deletion				0.0121			ENST00000327607	protein_coding					PLENLPSLAPPPLQTASAPLTTPH/H		-		2430-2498/4518	0.0353			F5H1R7_HUMAN			YES	CTD-3193O13.9,inframe_deletion,p.Pro756_Pro778del,ENST00000539422,NM_001190467.1;CTD-3193O13.9,inframe_deletion,p.Pro171_Pro193del,ENST00000599142,;CTD-3193O13.11,splice_donor_variant,,ENST00000597156,;CTD-3193O13.9,intron_variant,,ENST00000593356,;	0.0484						MODERATE	2267-2335/4041					Transcript			common_variant	ENSP00000438970	0.011				1	
RDH12	0	LGGM	GRCh37	14	68191265	68191265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	36	3	.	.	ENST00000551171.1:c.144C>A	p.Asn48Lys	p.N48K	ENST00000551171	NM_152443.2	48	aaC/aaA	0	1		UPI0000071827	0	getma.org/pdb.php?prot=RDH12_HUMAN&from=40&to=187&var=N48K	ENST00000267502		ENSG00000139988	19977		39	3.63		HGNC	p.N48K		RDH12		SNV			1				ENST00000551171	protein_coding	getma.org/?cm=var&var=hg19,14,68191265,C,A&fts=all		hmmpanther:PTHR24316:SF256,hmmpanther:PTHR24316,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081		N/K		A	high	424/1833		getma.org/?cm=msa&ty=f&p=RDH12_HUMAN&rb=40&re=187&var=N48K	deleterious(0)					RDH12,missense_variant,p.Asn48Lys,ENST00000551171,NM_152443.2;RDH12,missense_variant,p.Asn48Lys,ENST00000267502,;RDH12,missense_variant,p.Asn48Lys,ENST00000539142,;RDH12,downstream_gene_variant,,ENST00000547463,;ZFYVE26,downstream_gene_variant,,ENST00000394455,;RDH12,upstream_gene_variant,,ENST00000552873,;							MODERATE	144/951	N48K	RDH12_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000267502		CCDS9787.1			1	
MAT1A	0	LGGM	GRCh37	10	82049165	82049165	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	41	3	.	.	ENST00000372213.3:c.15G>T	p.Val5=	p.V5=	ENST00000372213	NM_000429.2	5	gtG/gtT	0	1	1	UPI000012EFF3	0		ENST00000372213		ENSG00000151224	6903		44			HGNC	p.V5V		MAT1A		SNV			1				ENST00000372213	protein_coding			hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964		V		A		276/3410							YES	MAT1A,synonymous_variant,p.=,ENST00000372213,NM_000429.2;MAT1A,upstream_gene_variant,,ENST00000455001,;							LOW	15/1188		METK1_HUMAN			Transcript			.	ENSP00000361287		CCDS7365.1			1	
MMP2	0	LGGM	GRCh37	16	55525750	55525750	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	28	3	.	.	ENST00000219070.4:c.1218C>T	p.Gly406=	p.G406=	ENST00000219070	NM_004530.4	406	ggC/ggT	0	1	1	UPI00000422C4	0		ENST00000219070		ENSG00000087245	7166		31			HGNC	p.G330G		MMP2		SNV			1				ENST00000570308	protein_coding			hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486,Prints_domain:PR00138		G		T		1727/3741				Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN			YES	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,;							LOW	1218/1983		MMP2_HUMAN			Transcript			.	ENSP00000219070		CCDS10752.1			1	
RAB4B	0	LGGM	GRCh37	19	41289875	41289875	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	11	3	.	.	ENST00000594136.1:c.325C>A	p.Leu109Met	p.L109M	ENST00000594136		109	Ctg/Atg	0	1		UPI000000125C	0	getma.org/pdb.php?prot=RAB4B_HUMAN&from=10&to=171&var=L109M	ENST00000357052		ENSG00000167578	9782		14	0.63		HGNC	p.L109M		RAB4B		SNV							ENST00000594136	protein_coding	getma.org/?cm=var&var=hg19,19,41289875,C,A&fts=all		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		L/M		A	neutral	435/1140		getma.org/?cm=msa&ty=f&p=RAB4B_HUMAN&rb=10&re=171&var=L109M	tolerated(0.08)					RAB4B,missense_variant,p.Leu109Met,ENST00000594800,;RAB4B,missense_variant,p.Leu109Met,ENST00000357052,NM_016154.4;RAB4B,missense_variant,p.Leu77Met,ENST00000595728,;RAB4B,missense_variant,p.Leu88Met,ENST00000602173,;RAB4B,non_coding_transcript_exon_variant,,ENST00000602069,;RAB4B-EGLN2,intron_variant,,ENST00000601949,;RAB4B-EGLN2,missense_variant,p.Leu109Met,ENST00000594136,;MIA-RAB4B,3_prime_UTR_variant,,ENST00000600729,;RAB4B,non_coding_transcript_exon_variant,,ENST00000597476,;RAB4B,non_coding_transcript_exon_variant,,ENST00000600078,;RAB4B-EGLN2,non_coding_transcript_exon_variant,,ENST00000596216,;RAB4B,intron_variant,,ENST00000378307,;RAB4B,upstream_gene_variant,,ENST00000598430,;							MODERATE	325/642	L109M	RAB4B_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000349560		CCDS33030.1			1	
SLC35A4	0	LGGM	GRCh37	5	139947658	139947658	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	24	3	.	.	ENST00000514199.1:c.904C>A	p.Leu302Ile	p.L302I	ENST00000514199		302	Ctc/Atc	0	1		UPI0000036D2F	0	NA	ENST00000323146		ENSG00000176087	20753		27	2.07		HGNC	p.L302I		SLC35A4		SNV							ENST00000514199	protein_coding	getma.org/?cm=var&var=hg19,5,139947658,C,A&fts=all		Pfam_domain:PF04142,PIRSF_domain:PIRSF005799,hmmpanther:PTHR10231,hmmpanther:PTHR10231:SF37,Low_complexity_(Seg):seg		L/I		A	medium	2011/3041		getma.org/?cm=msa&ty=f&p=S35A4_HUMAN&rb=82&re=313&var=L302I	deleterious(0.05)					SLC35A4,missense_variant,p.Leu302Ile,ENST00000514199,;SLC35A4,missense_variant,p.Leu302Ile,ENST00000323146,NM_080670.2;APBB3,upstream_gene_variant,,ENST00000357560,NM_133173.2,NM_006051.3;APBB3,upstream_gene_variant,,ENST00000508496,;APBB3,upstream_gene_variant,,ENST00000354402,;APBB3,upstream_gene_variant,,ENST00000356738,NM_133172.2,NM_133174.2;APBB3,upstream_gene_variant,,ENST00000358580,;APBB3,upstream_gene_variant,,ENST00000412920,;APBB3,upstream_gene_variant,,ENST00000511201,;APBB3,intron_variant,,ENST00000507279,;APBB3,intron_variant,,ENST00000513766,;SLC35A4,downstream_gene_variant,,ENST00000508770,;APBB3,upstream_gene_variant,,ENST00000505617,;APBB3,upstream_gene_variant,,ENST00000510241,;APBB3,upstream_gene_variant,,ENST00000511896,;APBB3,upstream_gene_variant,,ENST00000509914,;APBB3,upstream_gene_variant,,ENST00000467078,;APBB3,upstream_gene_variant,,ENST00000506958,;APBB3,upstream_gene_variant,,ENST00000506289,;SLC35A4,downstream_gene_variant,,ENST00000514137,;APBB3,upstream_gene_variant,,ENST00000513507,;APBB3,upstream_gene_variant,,ENST00000503850,;APBB3,upstream_gene_variant,,ENST00000506165,;APBB3,upstream_gene_variant,,ENST00000511459,;							MODERATE	904/975	L302I	S35A4_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000327133		CCDS4231.1			1	
TOM1L1	0	LGGM	GRCh37	17	52993208	52993208	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	39	3	.	.	ENST00000575882.1:c.705C>A	p.Asp235Glu	p.D235E	ENST00000575882	NM_005486.2	235	gaC/gaA	0	1	1	UPI000003E7E0	0	getma.org/pdb.php?prot=TM1L1_HUMAN&from=197&to=299&var=D235E	ENST00000575882		ENSG00000141198	11983		42	2.06		HGNC	p.D235E		TOM1L1		SNV							ENST00000575333	protein_coding	getma.org/?cm=var&var=hg19,17,52993208,C,A&fts=all		PROSITE_profiles:PS50909,hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,Pfam_domain:PF03127,Gene3D:1.20.58.160,PIRSF_domain:PIRSF036948,Superfamily_domains:SSF89009		D/E		A	medium	1058/2500		getma.org/?cm=msa&ty=f&p=TM1L1_HUMAN&rb=197&re=299&var=D235E	deleterious(0.01)	I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN			YES	TOM1L1,missense_variant,p.Asp235Glu,ENST00000575882,NM_005486.2;TOM1L1,missense_variant,p.Asp235Glu,ENST00000570371,;TOM1L1,missense_variant,p.Asp200Glu,ENST00000572405,;TOM1L1,missense_variant,p.Asp235Glu,ENST00000445275,;TOM1L1,missense_variant,p.Asp158Glu,ENST00000348161,;TOM1L1,missense_variant,p.Asp235Glu,ENST00000575333,;TOM1L1,missense_variant,p.Asp123Glu,ENST00000540336,;TOM1L1,missense_variant,p.Asp158Glu,ENST00000536554,;TOM1L1,missense_variant,p.Asp228Glu,ENST00000572158,;TOM1L1,missense_variant,p.Asp182Glu,ENST00000572576,;TOM1L1,missense_variant,p.Asp225Glu,ENST00000575909,;TOM1L1,missense_variant,p.Asp199Glu,ENST00000570499,;TOM1L1,downstream_gene_variant,,ENST00000572298,;TOM1L1,downstream_gene_variant,,ENST00000573607,;TOM1L1,missense_variant,p.Asp158Glu,ENST00000576932,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,3_prime_UTR_variant,,ENST00000570965,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000570977,;TOM1L1,downstream_gene_variant,,ENST00000572360,;							MODERATE	705/1431	D235E	TM1L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000460823		CCDS11582.1			1	
DRP2	0	LGGM	GRCh37	X	100513389	100513389	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	6	3	.	.	ENST00000395209.3:c.2482A>G	p.Thr828Ala	p.T828A	ENST00000395209	NM_001939.2	828	Aca/Gca	0	1	1	UPI000013D388	0	NA	ENST00000395209		ENSG00000102385	3032		9	0.345		HGNC	p.T828A		DRP2		SNV							ENST00000395209	protein_coding	getma.org/?cm=var&var=hg19,X,100513389,A,G&fts=all		hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205		T/A		G	neutral	3009/7277		getma.org/?cm=msa&ty=f&p=DRP2_HUMAN&rb=650&re=849&var=T828A	tolerated(0.59)				YES	DRP2,missense_variant,p.Thr828Ala,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.Thr828Ala,ENST00000402866,;DRP2,missense_variant,p.Thr828Ala,ENST00000538510,;DRP2,missense_variant,p.Thr750Ala,ENST00000541709,NM_001171184.1;							MODERATE	2482/2874	T828A	DRP2_HUMAN			Transcript		benign(0)	.	ENSP00000378635		CCDS14480.2			1	
HIST1H4J	0	LGGM	GRCh37	6	27791926	27791926	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	16	3	.	.	ENST00000355057.1:c.24G>T	p.Gly8=	p.G8=	ENST00000355057	NM_021968.3	8	ggG/ggT	0	1	1	UPI000000003C	0		ENST00000355057		ENSG00000197238	4785		19			HGNC	p.G8G	rs772539819	HIST1H4J		SNV							ENST00000355057	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00623		G		T		43/374				Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4J,synonymous_variant,p.=,ENST00000355057,NM_021968.3;							LOW	24/312		H4_HUMAN			Transcript			.	ENSP00000347168	8.63E-06	CCDS4630.1			1	
OGG1	0	LGGM	GRCh37	3	9798970	9798970	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	45	3	.	.	ENST00000302036.7:c.948+470C>G		*316*	ENST00000302036	NM_016821.2			0	1		UPI0000130C46	0	NA	ENST00000344629		ENSG00000114026	8125		48	0		HGNC	p.I397M		OGG1		SNV			1				ENST00000302003	protein_coding	getma.org/?cm=var&var=hg19,3,9798970,C,G&fts=all						G	neutral	1517/1744		getma.org/?cm=msa&ty=f&p=E5KPS2_HUMAN&rb=302&re=410&var=I397M		E5KPN1_HUMAN				OGG1,missense_variant,p.Ile397Met,ENST00000302003,NM_016820.3,NM_002542.5;OGG1,3_prime_UTR_variant,,ENST00000339511,NM_016819.3;OGG1,3_prime_UTR_variant,,ENST00000344629,;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,;CAMK1,downstream_gene_variant,,ENST00000256460,NM_003656.4;CAMK1,downstream_gene_variant,,ENST00000421120,;OGG1,downstream_gene_variant,,ENST00000441094,;CAMK1,downstream_gene_variant,,ENST00000411972,;OGG1,downstream_gene_variant,,ENST00000416333,;OGG1,downstream_gene_variant,,ENST00000383825,;OGG1,upstream_gene_variant,,ENST00000602976,;CAMK1,downstream_gene_variant,,ENST00000496534,;CAMK1,downstream_gene_variant,,ENST00000397277,;OGG1,downstream_gene_variant,,ENST00000425665,;OGG1,downstream_gene_variant,,ENST00000429146,;CAMK1,downstream_gene_variant,,ENST00000482803,;							MODIFIER	-/1038	I397M	OGG1_HUMAN			Transcript			.	ENSP00000342851		CCDS2581.1			1	
TOPORS	0	LGGM	GRCh37	9	32550783	32550783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	29	3	.	.	ENST00000360538.2:c.187G>A	p.Ala63Thr	p.A63T	ENST00000360538	NM_005802.4	63	Gca/Aca	0	1	1	UPI000006F223	0	NA	ENST00000360538		ENSG00000197579	21653		32	0		HGNC	p.A63T		TOPORS		SNV			1				ENST00000360538	protein_coding	getma.org/?cm=var&var=hg19,9,32550783,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456		A/T		T	neutral	304/4098		getma.org/?cm=msa&ty=f&p=TOPRS_HUMAN&rb=47&re=98&var=A63T	tolerated_low_confidence(0.4)				YES	TOPORS,missense_variant,p.Ala63Thr,ENST00000360538,NM_005802.4;TOPORS,intron_variant,,ENST00000379858,NM_001195622.1;NDUFB6,downstream_gene_variant,,ENST00000379847,NM_002493.4;NDUFB6,downstream_gene_variant,,ENST00000350021,NM_182739.2;TOPORS-AS1,upstream_gene_variant,,ENST00000453396,;TOPORS-AS1,upstream_gene_variant,,ENST00000425533,;TOPORS-AS1,upstream_gene_variant,,ENST00000458036,;TOPORS-AS1,upstream_gene_variant,,ENST00000540066,;TOPORS-AS1,upstream_gene_variant,,ENST00000450093,;AL353671.3,upstream_gene_variant,,ENST00000366466,;AL353671.2,downstream_gene_variant,,ENST00000359975,;AL353671.1,upstream_gene_variant,,ENST00000366355,;							MODERATE	187/3138	A63T	TOPRS_HUMAN			Transcript		benign(0.027)	.	ENSP00000353735		CCDS6527.1			1	
KIF3C	0	LGGM	GRCh37	2	26204420	26204420	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	39	3	.	.	ENST00000264712.3:c.367G>T	p.Ala123Ser	p.A123S	ENST00000264712	NM_002254.6	123	Gcc/Tcc	0	1	1	UPI000013D55A	0	getma.org/pdb.php?prot=KIF3C_HUMAN&from=16&to=265&var=A123S	ENST00000264712		ENSG00000084731	6321		42	0.62		HGNC	p.A123S		KIF3C		SNV							ENST00000417737	protein_coding	getma.org/?cm=var&var=hg19,2,26204420,C,A&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF349,hmmpanther:PTHR24115,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540		A/S		A	neutral	947/5338		getma.org/?cm=msa&ty=f&p=KIF3C_HUMAN&rb=16&re=265&var=A123S					YES	KIF3C,missense_variant,p.Ala123Ser,ENST00000264712,NM_002254.6;KIF3C,missense_variant,p.Ala123Ser,ENST00000405914,;KIF3C,missense_variant,p.Ala123Ser,ENST00000455394,;KIF3C,missense_variant,p.Ala123Ser,ENST00000417737,;KIF3C,upstream_gene_variant,,ENST00000475453,;							MODERATE	367/2382	A123S	KIF3C_HUMAN			Transcript		benign(0.012)	.	ENSP00000264712		CCDS1719.1			1	
PREX2	0	LGGM	GRCh37	8	68989640	68989640	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	45	3	.	.	ENST00000288368.4:c.1578C>T	p.Cys526=	p.C526=	ENST00000288368	NM_024870.2	526	tgC/tgT	0	1	1	UPI0000375435	0		ENST00000288368		ENSG00000046889	22950		48			HGNC	p.C526C		PREX2		SNV							ENST00000288368	protein_coding			Gene3D:1.10.10.10,Pfam_domain:PF00610,PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00049,Superfamily_domains:SSF46785		C		T		1855/10750				Q56UR8_HUMAN			YES	PREX2,synonymous_variant,p.=,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,;							LOW	1578/4821		PREX2_HUMAN			Transcript			.	ENSP00000288368		CCDS6201.1			1	
DOCK8	0	LGGM	GRCh37	9	286591	286591	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	20	3	.	.	ENST00000453981.1:c.287C>T	p.Thr96Met	p.T96M	ENST00000453981		96	aCg/aTg	0	1		UPI000034ECCE	0	NA	ENST00000432829		ENSG00000107099	19191		23	1.78		HGNC	p.T28M		DOCK8		SNV			1				ENST00000469391	protein_coding	getma.org/?cm=var&var=hg19,9,286591,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317,Pfam_domain:PF11878		T/M		T	low	399/7452		getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=69&re=164&var=T96M	tolerated(0.13)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				DOCK8,missense_variant,p.Thr28Met,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Thr96Met,ENST00000453981,;DOCK8,missense_variant,p.Thr28Met,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Thr28Met,ENST00000479404,;DOCK8,missense_variant,p.Thr28Met,ENST00000487230,;DOCK8,missense_variant,p.Thr28Met,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,;							MODERATE	83/6096	T96M	DOCK8_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000394888		CCDS55283.1			1	
WDR36	0	LGGM	GRCh37	5	110432864	110432864	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	35	3	.	.	ENST00000506538.2:c.446C>T	p.Ala149Val	p.A149V	ENST00000506538	NM_139281.2	149	gCc/gTc	0	1	1	UPI000007018C	0	NA	ENST00000506538		ENSG00000134987	30696		38	1.59		HGNC	p.A93V		WDR36		SNV			1				ENST00000505303	protein_coding	getma.org/?cm=var&var=hg19,5,110432864,C,T&fts=all		hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		A/V		T	low	1019/7048		getma.org/?cm=msa&ty=f&p=WDR36_HUMAN&rb=1&re=200&var=A149V	tolerated(0.11)	D6RFM8_HUMAN			YES	WDR36,missense_variant,p.Ala149Val,ENST00000506538,NM_139281.2;WDR36,missense_variant,p.Ala149Val,ENST00000513710,;WDR36,missense_variant,p.Ala93Val,ENST00000505303,;WDR36,missense_variant,p.Ala20Val,ENST00000504122,;WDR36,downstream_gene_variant,,ENST00000515784,;							MODERATE	446/2856	A149V	WDR36_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000423067		CCDS4102.1			1	
SPAST	0	LGGM	GRCh37	2	32362004	32362004	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	25	4	.	.	ENST00000315285.3:c.1380C>A	p.Arg460=	p.R460=	ENST00000315285	NM_014946.3	460	cgC/cgA	0	1	1	UPI0000038A6B	0		ENST00000315285		ENSG00000021574	11233		29			HGNC	p.R460R		SPAST		SNV			1				ENST00000315285	protein_coding			HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,PIRSF_domain:PIRSF037338,Superfamily_domains:SSF52540		R		A		1505/5117				E5KRP5_HUMAN			YES	SPAST,synonymous_variant,p.=,ENST00000315285,NM_014946.3;SPAST,synonymous_variant,p.=,ENST00000345662,NM_199436.1;							LOW	1380/1851		SPAST_HUMAN			Transcript			.	ENSP00000320885		CCDS1778.1			1	
MARCH1	0	LGGM	GRCh37	4	164506919	164506919	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	64	4	.	.	ENST00000503008.1:c.405G>A	p.Lys135=	p.K135=	ENST00000503008	NM_001166373.1	135	aaG/aaA	0	1		UPI0000037BB3	0		ENST00000274056		ENSG00000145416	26077		68			HGNC	p.K118K		MARCH1		SNV							ENST00000339875	protein_coding			hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF53		K		T		452/5367				D6REN1_HUMAN				MARCH1,synonymous_variant,p.=,ENST00000503008,NM_001166373.1;MARCH1,synonymous_variant,p.=,ENST00000274056,;MARCH1,synonymous_variant,p.=,ENST00000514618,;MARCH1,synonymous_variant,p.=,ENST00000339875,NM_017923.3;MARCH1,synonymous_variant,p.=,ENST00000507270,;MARCH1,synonymous_variant,p.=,ENST00000510786,;MARCH1,non_coding_transcript_exon_variant,,ENST00000512214,;MARCH1,non_coding_transcript_exon_variant,,ENST00000505517,;							LOW	405/870		MARH1_HUMAN			Transcript			.	ENSP00000274056		CCDS54814.1			1	
POLR2A	0	LGGM	GRCh37	17	7404927	7404927	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	42	4	.	.	ENST00000322644.6:c.2228G>A	p.Arg743His	p.R743H	ENST00000322644	NM_000937.4	743	cGc/cAc	0	1	1	UPI0000140EB9	0	getma.org/pdb.php?prot=RPB1_HUMAN&from=716&to=823&var=R743H	ENST00000322644		ENSG00000181222	9187		46	2.435		HGNC	p.R743H	COSM357843	POLR2A		SNV						1	ENST00000322644	protein_coding	getma.org/?cm=var&var=hg19,17,7404927,G,A&fts=all		Pfam_domain:PF05000,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484		R/H		A	medium	2627/6749		getma.org/?cm=msa&ty=f&p=RPB1_HUMAN&rb=716&re=823&var=R743H					YES	POLR2A,missense_variant,p.Arg743His,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,;					1		MODERATE	2228/5913	R743H	RPB1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000314949		CCDS32548.1			1	
UBE2W	0	LGGM	GRCh37	8	74722777	74722777	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	94	5	.	.	ENST00000358757.5:c.298T>C	p.Ser100Pro	p.S100P	ENST00000358757		100	Tcc/Ccc	0	1		UPI0000037726	0	getma.org/pdb.php?prot=UBE2W_HUMAN&from=7&to=148&var=S100P	ENST00000602593		ENSG00000104343	25616		99	4.23		HGNC	p.S111P		UBE2W		SNV							ENST00000419880	protein_coding	getma.org/?cm=var&var=hg19,8,74722777,A,G&fts=all		PROSITE_profiles:PS50127,hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF35,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495		S/P		G	high	351/4004		getma.org/?cm=msa&ty=f&p=UBE2W_HUMAN&rb=7&re=148&var=S100P	deleterious(0)					UBE2W,missense_variant,p.Ser129Pro,ENST00000517608,NM_018299.4;UBE2W,missense_variant,p.Ser111Pro,ENST00000602969,;UBE2W,missense_variant,p.Ser100Pro,ENST00000602593,;UBE2W,missense_variant,p.Ser140Pro,ENST00000419880,NM_001001481.2;UBE2W,missense_variant,p.Ser100Pro,ENST00000453587,NM_001271015.1;UBE2W,missense_variant,p.Ser96Pro,ENST00000523278,;RP11-463D19.2,missense_variant,p.Ser100Pro,ENST00000358757,;UBE2W,3_prime_UTR_variant,,ENST00000422906,;UBE2W,3_prime_UTR_variant,,ENST00000519277,;UBE2W,3_prime_UTR_variant,,ENST00000519255,;							MODERATE	298/456	S100P	UBE2W_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000473561					1	
SCARF2	0	LGGM	GRCh37	22	20783597	20783597	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	10	5	.	.	ENST00000266214.5:c.1470G>T	p.Pro490=	p.P490=	ENST00000266214	NM_153334.4	490	ccG/ccT	0	1	1	UPI0000135F1C	0		ENST00000266214		ENSG00000244486	19869		15			HGNC	p.P490P	rs779948343	SCARF2		SNV			1				ENST00000266214	protein_coding			hmmpanther:PTHR24043,hmmpanther:PTHR24043:SF5		P		A		1575/3278	1.60E-05						YES	SCARF2,synonymous_variant,p.=,ENST00000405555,NM_182895.2;SCARF2,synonymous_variant,p.=,ENST00000266214,NM_153334.4;KLHL22,3_prime_UTR_variant,,ENST00000429594,;SCARF2,non_coding_transcript_exon_variant,,ENST00000494535,;							LOW	1470/2613		SREC2_HUMAN			Transcript			.	ENSP00000266214	8.24E-06	CCDS13779.1			1	
CTD-3088G3.8	0	LGGM	GRCh37	16	11553762	11553762	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	5	5	.	.	ENST00000598234.1:c.3749A>C	p.His1250Pro	p.H1250P	ENST00000598234		1250	cAc/cCc	0	1	1	UPI0002A474E2	0	NA	ENST00000598234		ENSG00000188897			10	0.69		Clone_based_vega_gene	p.H210P		CTD-3088G3.8		SNV							ENST00000344649	protein_coding	getma.org/?cm=var&var=hg19,16,11553762,T,G&fts=all		hmmpanther:PTHR23345,hmmpanther:PTHR23345:SF1		H/P		G	neutral	3902/7627		getma.org/?cm=msa&ty=f&p=YP015_HUMAN&rb=52&re=531&var=H210P	deleterious(0.01)	M0QZD8_HUMAN			YES	CTD-3088G3.8,missense_variant,p.His1250Pro,ENST00000598234,;CTD-3088G3.8,missense_variant,p.His210Pro,ENST00000344649,;CTD-3088G3.8,3_prime_UTR_variant,,ENST00000595170,;CTD-3088G3.8,upstream_gene_variant,,ENST00000600877,;							MODERATE	3749/7474	H210P				Transcript		unknown(0)	.	ENSP00000470478					1	
SEC16A	0	LGGM	GRCh37	9	139370210	139370210	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	4	6	.	.	ENST00000313050.7:c.1858G>A	p.Gly620Arg	p.G620R	ENST00000313050	NM_014866.1	620	Ggg/Agg	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006		10	2.215		HGNC	p.G620R		SEC16A		SNV							ENST00000313050	protein_coding	getma.org/?cm=var&var=hg19,9,139370210,C,T&fts=all		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7		G/R		T	medium	1932/8806		getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=2&re=891&var=G442R	deleterious(0)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Gly620Arg,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Gly442Arg,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Gly442Arg,ENST00000290037,;SEC16A,missense_variant,p.Gly442Arg,ENST00000431893,;							MODERATE	1858/7074	G442R				Transcript		probably_damaging(1)	.	ENSP00000325827		CCDS55351.1			1	
C16orf87	0	LGGM	GRCh37	16	46865027	46865027	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	0	6	.	.	ENST00000285697.4:c.35C>T	p.Ala12Val	p.A12V	ENST00000285697	NM_001001436.2	12	gCc/gTc	0	1	1	UPI00001610B9	0	NA	ENST00000285697		ENSG00000155330	33754		6	0.55		HGNC	p.A12V		C16orf87		SNV							ENST00000394806	protein_coding	getma.org/?cm=var&var=hg19,16,46865027,G,A&fts=all		hmmpanther:PTHR31101:SF1,hmmpanther:PTHR31101		A/V		A	neutral	297/1585		getma.org/?cm=msa&ty=f&p=CP087_HUMAN&rb=1&re=43&var=A12V	tolerated(0.95)				YES	C16orf87,missense_variant,p.Ala12Val,ENST00000394806,;C16orf87,missense_variant,p.Ala12Val,ENST00000285697,NM_001001436.2;C16orf87,upstream_gene_variant,,ENST00000565112,;C16orf87,upstream_gene_variant,,ENST00000564250,;							MODERATE	35/465	A12V	CP087_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000285697		CCDS10724.1			1	
KCTD13	0	LGGM	GRCh37	16	29934458	29934458	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	9	7	.	.	ENST00000568000.1:c.414+53A>G		*138*	ENST00000568000	NM_178863.3			0	1		UPI0000073C51	0		ENST00000308768		ENSG00000174943	22234		16			HGNC	p.Q156R		KCTD13		SNV							ENST00000561540	nonsense_mediated_decay							C		-/1685								KCTD13,missense_variant,p.Gln156Arg,ENST00000561540,;KCTD13,intron_variant,,ENST00000568000,NM_178863.3;KCTD13,intron_variant,,ENST00000568995,;KCTD13,intron_variant,,ENST00000566413,;CTD-2574D22.4,upstream_gene_variant,,ENST00000567795,;CTD-2574D22.2,upstream_gene_variant,,ENST00000450909,;KCTD13,intron_variant,,ENST00000563264,;KCTD13,downstream_gene_variant,,ENST00000568721,;KCTD13,intron_variant,,ENST00000566842,;KCTD13,intron_variant,,ENST00000308768,;ASPHD1,downstream_gene_variant,,ENST00000566693,;ASPHD1,downstream_gene_variant,,ENST00000414952,;							MODIFIER	-/990		BACD1_HUMAN			Transcript			.	ENSP00000311202		CCDS10661.1			1	
LPIN2	0	LGGM	GRCh37	18	2951313	2951313	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	17	9	.	.	ENST00000261596.4:c.330T>G	p.Thr110=	p.T110=	ENST00000261596	NM_014646.2	110	acT/acG	0	1	1	UPI000012E865	0		ENST00000261596		ENSG00000101577	14450		26			HGNC	p.T110T		LPIN2		SNV			1				ENST00000261596	protein_coding			hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11,Pfam_domain:PF04571		T		C		569/6229				J3KTK1_HUMAN			YES	LPIN2,synonymous_variant,p.=,ENST00000261596,NM_014646.2;LPIN2,synonymous_variant,p.=,ENST00000584294,;LPIN2,downstream_gene_variant,,ENST00000584915,;RP11-737O24.2,non_coding_transcript_exon_variant,,ENST00000584431,;RP11-737O24.2,downstream_gene_variant,,ENST00000581488,;RP11-737O24.3,upstream_gene_variant,,ENST00000581139,;RP11-737O24.3,upstream_gene_variant,,ENST00000582850,;							LOW	330/2691		LPIN2_HUMAN			Transcript			.	ENSP00000261596		CCDS11829.1			1	
PLXNA1	0	LGGM	GRCh37	3	126746873	126746873	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	17	9	.	.	ENST00000393409.2:c.4453C>T	p.Arg1485Cys	p.R1485C	ENST00000393409	NM_032242.3	1485	Cgc/Tgc	0	1	1	UPI00001A7983	0	getma.org/pdb.php?prot=PLXA1_HUMAN&from=1317&to=1866&var=R1485C	ENST00000393409		ENSG00000114554	9099		26	2.79		HGNC	p.R1485C		PLXNA1		SNV							ENST00000393409	protein_coding	getma.org/?cm=var&var=hg19,3,126746873,C,T&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF08337		R/C		T	medium	4453/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=1317&re=1866&var=R1485C	deleterious(0)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Arg1462Cys,ENST00000251772,;PLXNA1,missense_variant,p.Arg1485Cys,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000505278,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,;PLXNA1,upstream_gene_variant,,ENST00000503363,;							MODERATE	4453/5691	R1485C	PLXA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377061		CCDS33847.2			1	
ITPR3	0	LGGM	GRCh37	6	33626796	33626796	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	34	10	.	.	ENST00000374316.5:c.529-2A>C		p.X177_splice	ENST00000374316				0	1	1	UPI000013CB74	0		ENST00000374316		ENSG00000096433	6182		44			HGNC	-		ITPR3		SNV							ENST00000374316	protein_coding							C		-/9870				A6H8K3_HUMAN			YES	ITPR3,splice_acceptor_variant,,ENST00000374316,;ITPR3,splice_acceptor_variant,,ENST00000605930,NM_002224.3;							HIGH	529/8016		ITPR3_HUMAN			Transcript			.	ENSP00000363435		CCDS4783.1			1	
ANKRD11	0	LGGM	GRCh37	16	89351199	89351199	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	3	10	.	.	ENST00000301030.4:c.1751C>G	p.Ser584Cys	p.S584C	ENST00000301030	NM_001256183.1	584	tCc/tGc	0	1	1	UPI00004569E1	0	NA	ENST00000301030		ENSG00000167522	21316		13	2.36		HGNC	p.S584C		ANKRD11		SNV			1				ENST00000301030	protein_coding	getma.org/?cm=var&var=hg19,16,89351199,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24145		S/C		C	medium	2212/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=429&re=628&var=S584C					YES	ANKRD11,missense_variant,p.Ser584Cys,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Ser584Cys,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							MODERATE	1751/7992	S584C	ANR11_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000301030		CCDS32513.1			1	
PRDX1	0	LGGM	GRCh37	1	45977080	45977080	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	151	10	.	.	ENST00000262746.1:c.521C>T	p.Pro174Leu	p.P174L	ENST00000262746	NM_181696.2	174	cCa/cTa	0	1	1	UPI000002FC88	0	getma.org/pdb.php?prot=PRDX1_HUMAN&from=162&to=197&var=P174L	ENST00000262746		ENSG00000117450	9352		161	5.06		HGNC	p.P72L		PRDX1		SNV							ENST00000372079	protein_coding	getma.org/?cm=var&var=hg19,1,45977080,G,A&fts=all		Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000239,Pfam_domain:PF10417,Gene3D:3.40.30.10,hmmpanther:PTHR10681:SF75,hmmpanther:PTHR10681		P/L		A	high	861/1233		getma.org/?cm=msa&ty=f&p=PRDX1_HUMAN&rb=162&re=197&var=P174L	deleterious(0)				YES	PRDX1,missense_variant,p.Pro174Leu,ENST00000262746,NM_181696.2,NM_002574.3;PRDX1,missense_variant,p.Pro174Leu,ENST00000319248,NM_181697.2;PRDX1,missense_variant,p.Pro72Leu,ENST00000372079,;MMACHC,downstream_gene_variant,,ENST00000401061,NM_015506.2;PRDX1,downstream_gene_variant,,ENST00000424390,;PRDX1,downstream_gene_variant,,ENST00000447184,;MMACHC,downstream_gene_variant,,ENST00000477188,;PRDX1,downstream_gene_variant,,ENST00000483583,;							MODERATE	521/600	P174L	PRDX1_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000262746		CCDS522.1			1	
MAGEB16	0	LGGM	GRCh37	X	35820756	35820756	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	61	10	.	.	ENST00000399989.1:c.443A>G	p.Glu148Gly	p.E148G	ENST00000399989	NM_001099921.1	148	gAg/gGg	0	1		UPI00006C1BC1	0	getma.org/pdb.php?prot=MAGBG_HUMAN&from=120&to=290&var=E148G	ENST00000399985		ENSG00000189023	21188		71	2.215		HGNC	p.E148G		MAGEB16		SNV							ENST00000399988	protein_coding	getma.org/?cm=var&var=hg19,X,35820756,A,G&fts=all		Pfam_domain:PF01454,PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF24		E/G		G	medium	571/1667		getma.org/?cm=msa&ty=f&p=MAGBG_HUMAN&rb=120&re=290&var=E148G	deleterious(0.03)					MAGEB16,missense_variant,p.Glu148Gly,ENST00000399989,NM_001099921.1;MAGEB16,missense_variant,p.Glu148Gly,ENST00000399987,;MAGEB16,missense_variant,p.Glu180Gly,ENST00000399992,;MAGEB16,missense_variant,p.Glu148Gly,ENST00000399988,;MAGEB16,missense_variant,p.Glu148Gly,ENST00000399985,;							MODERATE	443/975	E148G	MAGBG_HUMAN			Transcript		benign(0.392)	.	ENSP00000382867		CCDS43927.1			1	
POLR3K	0	LGGM	GRCh37	16	101585	101585	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	4	10	.	.	ENST00000293860.5:c.172G>T	p.Ala58Ser	p.A58S	ENST00000293860	NM_016310.3	58	Gcc/Tcc	0	1	1	UPI0000071729	0	NA	ENST00000293860		ENSG00000161980	14121		14	2.27		HGNC	p.A58S	COSM140748	POLR3K		SNV						1	ENST00000293860	protein_coding	getma.org/?cm=var&var=hg19,16,101585,C,A&fts=all		hmmpanther:PTHR11239,hmmpanther:PTHR11239:SF12,Gene3D:2.20.25.10,PIRSF_domain:PIRSF005586,Superfamily_domains:SSF57783		A/S		A	medium	214/1392		getma.org/?cm=msa&ty=f&p=RPC10_HUMAN&rb=8&re=96&var=A58S	tolerated(0.18)				YES	POLR3K,missense_variant,p.Ala58Ser,ENST00000293860,NM_016310.3;SNRNP25,upstream_gene_variant,,ENST00000293861,;SNRNP25,upstream_gene_variant,,ENST00000383018,NM_024571.3;SNRNP25,upstream_gene_variant,,ENST00000417493,;SNRNP25,upstream_gene_variant,,ENST00000493672,;POLR3K,non_coding_transcript_exon_variant,,ENST00000481810,;SNRNP25,upstream_gene_variant,,ENST00000481947,;SNRNP25,upstream_gene_variant,,ENST00000466183,;SNRNP25,upstream_gene_variant,,ENST00000397876,;					1		MODERATE	172/327	A58S	RPC10_HUMAN			Transcript		benign(0.186)	.	ENSP00000293860		CCDS10395.1			1	
NUP153	0	LGGM	GRCh37	6	17633077	17633078	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	GA	novel	by Submitter	H072441	H072441N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	11	13	.	.	ENST00000262077.2:c.2465-3_2465-2insTC		p.X822_splice	ENST00000262077	NM_001278210.1			0	1	1	UPI000013D251	0		ENST00000262077		ENSG00000124789	8062		24			HGNC	-		NUP153		insertion							ENST00000262077	protein_coding							GA		-/5487							YES	NUP153,splice_region_variant,,ENST00000262077,NM_001278210.1,NM_005124.3;NUP153,splice_region_variant,,ENST00000537253,NM_001278209.1;							LOW	-/4428		NU153_HUMAN			Transcript			.	ENSP00000262077		CCDS4541.1			1	
GOLGA3	0	LGGM	GRCh37	12	133381522	133381522	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	24	12	.	.	ENST00000204726.3:c.1377C>G	p.Ser459Arg	p.S459R	ENST00000204726	NM_005895.3	459	agC/agG	0	1	1	UPI0000190979	0	NA	ENST00000204726		ENSG00000090615	4426		36	0.695		HGNC	p.S459R		GOLGA3		SNV							ENST00000204726	protein_coding	getma.org/?cm=var&var=hg19,12,133381522,G,C&fts=all		hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902		S/R		C	neutral	1936/9252		getma.org/?cm=msa&ty=f&p=GOGA3_HUMAN&rb=416&re=624&var=S459R	tolerated(0.05)				YES	GOLGA3,missense_variant,p.Ser459Arg,ENST00000204726,NM_005895.3;GOLGA3,missense_variant,p.Ser459Arg,ENST00000450791,;GOLGA3,missense_variant,p.Ser459Arg,ENST00000456883,;GOLGA3,missense_variant,p.Ser459Arg,ENST00000545875,NM_001172557.1;GOLGA3,missense_variant,p.Ser459Arg,ENST00000537452,;							MODERATE	1377/4497	S459R	GOGA3_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000204726		CCDS9281.1			1	
C17orf62	0	LGGM	GRCh37	17	80401936	80401936	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	17	12	.	.	ENST00000437807.2:c.508A>G	p.Thr170Ala	p.T170A	ENST00000437807	NM_001193653.1	170	Aca/Gca	0	1		UPI000006FDD3	0	NA	ENST00000306645		ENSG00000178927	28672		29	-1.1		HGNC	p.T170A		C17orf62		SNV							ENST00000585080	protein_coding	getma.org/?cm=var&var=hg19,17,80401936,T,C&fts=all		Pfam_domain:PF15169,hmmpanther:PTHR31837		T/A		C	neutral	676/2093		getma.org/?cm=msa&ty=f&p=CQ062_HUMAN&rb=1&re=180&var=T170A	tolerated(0.78)	J3QRZ2_HUMAN,J3QLB7_HUMAN,J3QKS6_HUMAN,H0Y2X1_HUMAN				C17orf62,missense_variant,p.Thr170Ala,ENST00000437807,NM_001193653.1,NM_001193657.1;C17orf62,missense_variant,p.Thr170Ala,ENST00000306645,NM_001033046.3,NM_001100407.2,NM_001193654.1;C17orf62,missense_variant,p.Thr156Ala,ENST00000434650,NM_001100408.2;C17orf62,missense_variant,p.Thr46Ala,ENST00000342572,;C17orf62,missense_variant,p.Thr156Ala,ENST00000577436,;C17orf62,missense_variant,p.Thr170Ala,ENST00000585064,;C17orf62,missense_variant,p.Thr170Ala,ENST00000577732,NM_001193655.1;C17orf62,missense_variant,p.Thr170Ala,ENST00000578919,;C17orf62,missense_variant,p.Thr170Ala,ENST00000585080,;C17orf62,synonymous_variant,p.=,ENST00000336995,;C17orf62,intron_variant,,ENST00000583617,;C17orf62,intron_variant,,ENST00000582438,;C17orf62,intron_variant,,ENST00000579751,;HEXDC,downstream_gene_variant,,ENST00000337014,NM_173620.2;HEXDC,downstream_gene_variant,,ENST00000577944,;HEXDC,downstream_gene_variant,,ENST00000327949,;HEXDC,downstream_gene_variant,,ENST00000578130,;C17orf62,downstream_gene_variant,,ENST00000577696,;C17orf62,downstream_gene_variant,,ENST00000577471,;C17orf62,downstream_gene_variant,,ENST00000578913,;C17orf62,downstream_gene_variant,,ENST00000577834,;C17orf62,downstream_gene_variant,,ENST00000582545,;C17orf62,non_coding_transcript_exon_variant,,ENST00000581196,;C17orf62,non_coding_transcript_exon_variant,,ENST00000584503,;C17orf62,non_coding_transcript_exon_variant,,ENST00000580560,;C17orf62,downstream_gene_variant,,ENST00000583359,;C17orf62,downstream_gene_variant,,ENST00000584891,;C17orf62,3_prime_UTR_variant,,ENST00000584024,;C17orf62,3_prime_UTR_variant,,ENST00000582725,;C17orf62,3_prime_UTR_variant,,ENST00000577888,;C17orf62,non_coding_transcript_exon_variant,,ENST00000585044,;C17orf62,non_coding_transcript_exon_variant,,ENST00000578895,;C17orf62,non_coding_transcript_exon_variant,,ENST00000536759,;HEXDC,downstream_gene_variant,,ENST00000582429,;HEXDC,downstream_gene_variant,,ENST00000585077,;C17orf62,downstream_gene_variant,,ENST00000578941,;HEXDC,downstream_gene_variant,,ENST00000582131,;HEXDC,downstream_gene_variant,,ENST00000578616,;HEXDC,downstream_gene_variant,,ENST00000583354,;C17orf62,downstream_gene_variant,,ENST00000582395,;C17orf62,downstream_gene_variant,,ENST00000582608,;C17orf62,downstream_gene_variant,,ENST00000578064,;C17orf62,downstream_gene_variant,,ENST00000577707,;C17orf62,downstream_gene_variant,,ENST00000584408,;C17orf62,downstream_gene_variant,,ENST00000583778,;C17orf62,downstream_gene_variant,,ENST00000579444,;							MODERATE	508/564	T170A	CQ062_HUMAN			Transcript		benign(0.001)	.	ENSP00000307765		CCDS32776.1			1	
SLC16A10	0	LGGM	GRCh37	6	111498863	111498863	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	19	12	.	.	ENST00000368851.5:c.937C>T	p.His313Tyr	p.H313Y	ENST00000368851	NM_018593.4	313	Cac/Tac	0	1	1	UPI00000497DB	0	NA	ENST00000368851		ENSG00000112394	17027		31	1.635		HGNC	p.H313Y		SLC16A10		SNV							ENST00000368851	protein_coding	getma.org/?cm=var&var=hg19,6,111498863,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11360:SF119,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473		H/Y		T	low	1112/2508		getma.org/?cm=msa&ty=f&p=MOT10_HUMAN&rb=302&re=509&var=H313Y	deleterious(0.01)	Q9P1I2_HUMAN			YES	SLC16A10,missense_variant,p.His313Tyr,ENST00000368851,NM_018593.4;SLC16A10,missense_variant,p.His199Tyr,ENST00000419619,;SLC16A10,missense_variant,p.His199Tyr,ENST00000439288,;SLC16A10,5_prime_UTR_variant,,ENST00000368850,;SLC16A10,non_coding_transcript_exon_variant,,ENST00000465319,;							MODERATE	937/1548	H313Y	MOT10_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000357844		CCDS5089.1			1	
NFX1	0	LGGM	GRCh37	9	33290591	33290591	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	16	12	.	.	ENST00000379540.3:c.21C>T	p.Val7=	p.V7=	ENST00000379540	NM_002504.4	7	gtC/gtT	0	1	1	UPI0000072140	0		ENST00000379540		ENSG00000086102	7803		28			HGNC	p.V7V	rs777289568	NFX1		SNV							ENST00000379521	protein_coding					V		T		83/4604	1.51E-05						YES	NFX1,synonymous_variant,p.=,ENST00000379540,NM_002504.4;NFX1,synonymous_variant,p.=,ENST00000379521,NM_147133.2;NFX1,synonymous_variant,p.=,ENST00000318524,NM_147134.2;							LOW	21/3363		NFX1_HUMAN			Transcript			.	ENSP00000368856	8.24E-06	CCDS6538.1			1	
UTRN	0	LGGM	GRCh37	6	144878447	144878447	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	18	12	.	.	ENST00000367545.3:c.7289G>A	p.Ser2430Asn	p.S2430N	ENST00000367545	NM_007124.2	2430	aGt/aAt	0	1	1	UPI00003673F1	0	NA	ENST00000367545		ENSG00000152818	12635		30	1.5		HGNC	p.S2430N		UTRN		SNV							ENST00000367545	protein_coding	getma.org/?cm=var&var=hg19,6,144878447,G,A&fts=all		hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		S/N		A	low	7289/12339		getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=2334&re=2442&var=S2430N	deleterious(0.01)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,missense_variant,p.Ser2430Asn,ENST00000367545,NM_007124.2;							MODERATE	7289/10302	S2430N	UTRO_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000356515		CCDS34547.1			1	
BSN	0	LGGM	GRCh37	3	49662424	49662424	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	8	13	.	.	ENST00000296452.4:c.241G>A	p.Asp81Asn	p.D81N	ENST00000296452	NM_003458.3	81	Gac/Aac	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		21	0.69		HGNC	p.D81N		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49662424,G,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		D/N		A	neutral	355/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=1&re=165&var=D81N					YES	BSN,missense_variant,p.Asp81Asn,ENST00000296452,NM_003458.3;							MODERATE	241/11781	D81N	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
FUCA1	0	LGGM	GRCh37	1	24189703	24189703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	25	13	.	.	ENST00000374479.3:c.583C>T	p.Leu195Phe	p.L195F	ENST00000374479	NM_000147.4	195	Ctt/Ttt	0	1	1	UPI000013F479	0	getma.org/pdb.php?prot=FUCO_HUMAN&from=15&to=371&var=L195F	ENST00000374479		ENSG00000179163	4006		38	1.04		HGNC	p.L195F		FUCA1		SNV			1				ENST00000374479	protein_coding	getma.org/?cm=var&var=hg19,1,24189703,G,A&fts=all		Prints_domain:PR00741,Superfamily_domains:SSF51445,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Pfam_domain:PF01120,Gene3D:3.20.20.80,hmmpanther:PTHR10030:SF2,hmmpanther:PTHR10030		L/F		A	low	591/2047		getma.org/?cm=msa&ty=f&p=FUCO_HUMAN&rb=15&re=371&var=L195F	tolerated(0.07)	B5MDC5_HUMAN			YES	FUCA1,missense_variant,p.Leu195Phe,ENST00000374479,NM_000147.4;							MODERATE	583/1401	L195F	FUCO_HUMAN			Transcript		benign(0.033)	.	ENSP00000363603		CCDS244.2			1	
ZNF320	0	LGGM	GRCh37	19	53385080	53385080	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	171	14	.	.	ENST00000595635.1:c.299A>C	p.Gln100Pro	p.Q100P	ENST00000595635	NM_207333.2	100	cAg/cCg	0	1		UPI00004EC06C	0	NA	ENST00000391781		ENSG00000182986	13842		185	2.28		HGNC	p.Q86P		ZNF320		SNV							ENST00000597091	protein_coding	getma.org/?cm=var&var=hg19,19,53385080,T,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197		Q/P		G	medium	383/6038		getma.org/?cm=msa&ty=f&p=ZN320_HUMAN&rb=49&re=146&var=Q100P	deleterious(0.01)	Q6ZP55_HUMAN,M0R2L4_HUMAN,M0R1K6_HUMAN,M0R0Z8_HUMAN,M0QZA2_HUMAN				ZNF320,missense_variant,p.Gln100Pro,ENST00000595635,NM_207333.2;ZNF320,missense_variant,p.Gln100Pro,ENST00000391781,;ZNF320,missense_variant,p.Gln86Pro,ENST00000597091,;ZNF320,missense_variant,p.Gln100Pro,ENST00000593618,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,downstream_gene_variant,,ENST00000594741,;ZNF320,downstream_gene_variant,,ENST00000597265,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;							MODERATE	299/1530	Q100P	ZN320_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000375660		CCDS33095.1			1	
GALNT14	0	LGGM	GRCh37	2	31168686	31168686	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	21	14	.	.	ENST00000324589.5:c.720C>T	p.Thr240=	p.T240=	ENST00000324589	NM_001253826.1	240	acC/acT	0	1		UPI000000D723	0		ENST00000349752		ENSG00000158089	22946		35			HGNC	p.T200T		GALNT14		SNV							ENST00000420311	protein_coding			Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448		T		A		1345/2733								GALNT14,synonymous_variant,p.=,ENST00000349752,NM_024572.3;GALNT14,synonymous_variant,p.=,ENST00000406653,NM_001253827.1;GALNT14,synonymous_variant,p.=,ENST00000324589,NM_001253826.1;GALNT14,synonymous_variant,p.=,ENST00000356174,;GALNT14,synonymous_variant,p.=,ENST00000420311,;GALNT14,synonymous_variant,p.=,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,;							LOW	705/1659		GLT14_HUMAN			Transcript			.	ENSP00000288988		CCDS1773.2			1	
FGB	0	LGGM	GRCh37	4	155487772	155487772	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	38	16	.	.	ENST00000302068.4:c.438G>A	p.Gln146=	p.Q146=	ENST00000302068	NM_005141.4	146	caG/caA	0	1	1	UPI000012A778	0		ENST00000302068		ENSG00000171564	3662		54			HGNC	p.Q146Q		FGB		SNV			1				ENST00000302068	protein_coding			Superfamily_domains:SSF58010,Pfam_domain:PF08702,hmmpanther:PTHR19143:SF23,hmmpanther:PTHR19143		Q		A		501/1975				D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN			YES	FGB,synonymous_variant,p.=,ENST00000302068,NM_005141.4;FGB,intron_variant,,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,3_prime_UTR_variant,,ENST00000425838,;FGB,non_coding_transcript_exon_variant,,ENST00000473984,;FGB,non_coding_transcript_exon_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000498375,;							LOW	438/1476		FIBB_HUMAN			Transcript			.	ENSP00000306099		CCDS3786.1			1	
THEMIS2	0	LGGM	GRCh37	1	28206309	28206309	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	17	17	.	.	ENST00000373921.3:c.390C>T	p.Leu130=	p.L130=	ENST00000373921	NM_001105556.1	130	ctC/ctT	0	1	1	UPI00001A796C	0		ENST00000373921		ENSG00000130775	16839		34			HGNC	p.L130L	rs779927473	THEMIS2	0.000424	SNV							ENST00000328928	protein_coding			hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF2,Pfam_domain:PF12736		L		T		394/2687							YES	THEMIS2,synonymous_variant,p.=,ENST00000373921,NM_001105556.1;THEMIS2,synonymous_variant,p.=,ENST00000328928,NM_001286113.1;THEMIS2,synonymous_variant,p.=,ENST00000456990,;THEMIS2,synonymous_variant,p.=,ENST00000373925,NM_004848.2;THEMIS2,synonymous_variant,p.=,ENST00000427466,;THEMIS2,intron_variant,,ENST00000373927,NM_001039477.1;THEMIS2,intron_variant,,ENST00000442118,;THEMIS2,non_coding_transcript_exon_variant,,ENST00000466068,;THEMIS2,intron_variant,,ENST00000467258,;THEMIS2,intron_variant,,ENST00000482828,;THEMIS2,upstream_gene_variant,,ENST00000492877,;							LOW	390/1932		THMS2_HUMAN			Transcript			common_variant	ENSP00000363031	5.77E-05	CCDS41290.1			1	
NELL2	0	LGGM	GRCh37	12	45209793	45209793	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	35	17	.	.	ENST00000437801.2:c.461T>A	p.Leu154His	p.L154H	ENST00000437801	NM_001145107.1	154	cTc/cAc	0	1		UPI0000001063	0	NA	ENST00000429094		ENSG00000184613	7751		52	2.28		HGNC	p.L104H		NELL2		SNV							ENST00000552993	protein_coding	getma.org/?cm=var&var=hg19,12,45209793,A,T&fts=all		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899		L/H		T	medium	816/3612		getma.org/?cm=msa&ty=f&p=NELL2_HUMAN&rb=95&re=211&var=L104H	deleterious(0)	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN				NELL2,missense_variant,p.Leu104His,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.Leu154His,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.Leu103His,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.Leu104His,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.Leu103His,ENST00000551601,;NELL2,missense_variant,p.Leu103His,ENST00000549027,;NELL2,missense_variant,p.Leu127His,ENST00000333837,NM_001145110.1;NELL2,missense_variant,p.Leu104His,ENST00000552993,;NELL2,missense_variant,p.Leu103His,ENST00000548531,;NELL2,missense_variant,p.Leu101His,ENST00000553120,;NELL2,missense_variant,p.Leu104His,ENST00000548826,;NELL2,non_coding_transcript_exon_variant,,ENST00000547172,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;							MODERATE	311/2451	L104H	NELL2_HUMAN			Transcript		possibly_damaging(0.47)	.	ENSP00000390680		CCDS8746.1			1	
NFIX	0	LGGM	GRCh37	19	13201176	13201176	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	23	18	.	.	ENST00000397661.2:c.1318A>G	p.Thr440Ala	p.T440A	ENST00000397661	NM_002501.2	440	Act/Gct	0	1		UPI000012FFCC	0	NA	ENST00000592199		ENSG00000008441	7788		41	0.55		HGNC	p.T432A		NFIX		SNV			1				ENST00000587760	protein_coding	getma.org/?cm=var&var=hg19,19,13201176,A,G&fts=all		hmmpanther:PTHR11492:SF3,hmmpanther:PTHR11492,Pfam_domain:PF00859		N/S		G	neutral	1466/1509		getma.org/?cm=msa&ty=f&p=B4DM25_HUMAN&rb=400&re=433&var=T432A	tolerated(1)	K7ESG9_HUMAN,K7EN08_HUMAN,K7EKH0_HUMAN				NFIX,missense_variant,p.Asn447Ser,ENST00000358552,;NFIX,missense_variant,p.Thr402Ala,ENST00000360105,;NFIX,missense_variant,p.Thr440Ala,ENST00000397661,NM_002501.2;NFIX,missense_variant,p.Asn442Ser,ENST00000588228,NM_001271043.1;NFIX,missense_variant,p.Thr439Ala,ENST00000587260,;NFIX,missense_variant,p.Asn489Ser,ENST00000592199,;NFIX,missense_variant,p.Thr432Ala,ENST00000587760,NM_001271044.1;NFIX,missense_variant,p.Asn481Ser,ENST00000585575,;NFIX,3_prime_UTR_variant,,ENST00000586797,;							MODERATE	1466/1509	T432A	NFIX_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000467512					1	
RABGAP1	0	LGGM	GRCh37	9	125864027	125864027	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	14	18	.	.	ENST00000373647.4:c.3072C>A	p.Ala1024=	p.A1024=	ENST00000373647	NM_012197.3	1024	gcC/gcA	0	1	1	UPI00000373F8	0		ENST00000373647		ENSG00000011454	17155		32			HGNC	p.A363A		RABGAP1		SNV							ENST00000373643	protein_coding			Coiled-coils_(Ncoils):Coil		A		A		3206/4997				B7Z2B4_HUMAN,B5MCD9_HUMAN			YES	RABGAP1,synonymous_variant,p.=,ENST00000373647,NM_012197.3;RABGAP1,synonymous_variant,p.=,ENST00000373643,;RABGAP1,3_prime_UTR_variant,,ENST00000456584,;RABGAP1,downstream_gene_variant,,ENST00000480054,;							LOW	3072/3210		RBGP1_HUMAN			Transcript			.	ENSP00000362751		CCDS6848.2			1	
LCA5L	0	LGGM	GRCh37	21	40800198	40800198	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	39	18	.	.	ENST00000358268.2:c.222T>C	p.Asp74=	p.D74=	ENST00000358268		74	gaT/gaC	0	1		UPI00000015EE	0		ENST00000288350		ENSG00000157578	1255		57			HGNC	p.D74D		LCA5L		SNV							ENST00000288350	protein_coding			hmmpanther:PTHR16650:SF9,hmmpanther:PTHR16650		D		G		587/2416				C9JYR0_HUMAN,C9JRD7_HUMAN,C9JIJ8_HUMAN,C9JFB6_HUMAN,C9J9Z3_HUMAN,C9J5D2_HUMAN,C9J293_HUMAN,C9J198_HUMAN				LCA5L,synonymous_variant,p.=,ENST00000358268,;LCA5L,synonymous_variant,p.=,ENST00000485895,;LCA5L,synonymous_variant,p.=,ENST00000288350,;LCA5L,synonymous_variant,p.=,ENST00000380671,NM_152505.3;LCA5L,synonymous_variant,p.=,ENST00000418018,;LCA5L,synonymous_variant,p.=,ENST00000438404,;LCA5L,synonymous_variant,p.=,ENST00000411566,;LCA5L,synonymous_variant,p.=,ENST00000448288,;LCA5L,synonymous_variant,p.=,ENST00000434281,;LCA5L,downstream_gene_variant,,ENST00000415863,;LCA5L,downstream_gene_variant,,ENST00000426783,;LCA5L,downstream_gene_variant,,ENST00000451131,;LCA5L,downstream_gene_variant,,ENST00000456017,;LCA5L,non_coding_transcript_exon_variant,,ENST00000468009,;WRB,non_coding_transcript_exon_variant,,ENST00000476914,;WRB,non_coding_transcript_exon_variant,,ENST00000478273,;LCA5L,intron_variant,,ENST00000490184,;LCA5L,intron_variant,,ENST00000466954,;LCA5L,intron_variant,,ENST00000459939,;LCA5L,intron_variant,,ENST00000484878,;WRB,intron_variant,,ENST00000480690,;LCA5L,intron_variant,,ENST00000491625,;							LOW	222/2013		LCA5L_HUMAN			Transcript			.	ENSP00000288350		CCDS13665.1			1	
NALCN	0	LGGM	GRCh37	13	101712261	101712261	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	40	18	.	.	ENST00000251127.6:c.4814T>A	p.Leu1605Gln	p.L1605Q	ENST00000251127	NM_052867.2	1605	cTg/cAg	0	1	1	UPI000004EBBD	0	NA	ENST00000251127		ENSG00000102452	19082		58	0.14		HGNC	p.L1605Q		NALCN		SNV			1				ENST00000251127	protein_coding	getma.org/?cm=var&var=hg19,13,101712261,A,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176		L/Q		T	neutral	4896/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=1447&re=1646&var=L1605Q	tolerated(0.4)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Leu1605Gln,ENST00000251127,NM_052867.2;NALCN-AS1,downstream_gene_variant,,ENST00000457843,;							MODERATE	4814/5217	L1605Q	NALCN_HUMAN			Transcript		benign(0.063)	.	ENSP00000251127		CCDS9498.1			1	
BCAS3	0	LGGM	GRCh37	17	59155787	59155787	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	20	18	.	.	ENST00000390652.5:c.2269G>A	p.Val757Ile	p.V757I	ENST00000390652	NM_001099432.1	757	Gtt/Att	0	1	1	UPI00001AE949	0	NA	ENST00000390652		ENSG00000141376	14347		38	1.5		HGNC	p.V513I	rs372700855	BCAS3		SNV	A:0						ENST00000588874	protein_coding	getma.org/?cm=var&var=hg19,17,59155787,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13268,Pfam_domain:PF12490		V/I	A:0.0001	A	low	2300/3531	0.00012	getma.org/?cm=msa&ty=f&p=BCAS3_HUMAN&rb=521&re=780&var=V757I	tolerated(0.18)	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN			YES	BCAS3,missense_variant,p.Val742Ile,ENST00000589222,;BCAS3,missense_variant,p.Val757Ile,ENST00000588462,;BCAS3,missense_variant,p.Val757Ile,ENST00000390652,NM_001099432.1;BCAS3,missense_variant,p.Val742Ile,ENST00000408905,;BCAS3,missense_variant,p.Val742Ile,ENST00000407086,NM_017679.3;BCAS3,missense_variant,p.Val513Ile,ENST00000588874,;BCAS3,missense_variant,p.Val528Ile,ENST00000585744,;BCAS3,upstream_gene_variant,,ENST00000587002,;BCAS3,non_coding_transcript_exon_variant,,ENST00000585979,;BCAS3,downstream_gene_variant,,ENST00000592827,;							MODERATE	2269/2787	V757I	BCAS3_HUMAN	0.000151		Transcript		probably_damaging(0.998)	.	ENSP00000375067	7.44E-05	CCDS45749.1			1	
CAND2	0	LGGM	GRCh37	3	12858200	12858200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	20	18	.	.	ENST00000456430.2:c.1769G>T	p.Arg590Leu	p.R590L	ENST00000456430	NM_001162499.1	590	cGg/cTg	0	1	1	UPI00005795FA	0	getma.org/pdb.php?prot=CAND2_HUMAN&from=401&to=600&var=R590L	ENST00000456430		ENSG00000144712	30689		38	2.96		HGNC	p.R590L		CAND2		SNV							ENST00000456430	protein_coding	getma.org/?cm=var&var=hg19,3,12858200,G,T&fts=all		hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		R/L		T	medium	1810/4573		getma.org/?cm=msa&ty=f&p=CAND2_HUMAN&rb=401&re=600&var=R590L	deleterious(0.01)				YES	CAND2,missense_variant,p.Arg590Leu,ENST00000456430,NM_001162499.1;CAND2,missense_variant,p.Arg497Leu,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;							MODERATE	1769/3711	R590L	CAND2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000387641		CCDS54554.1			1	
TLE4	0	LGGM	GRCh37	9	82323525	82323525	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	57	20	.	.	ENST00000376552.2:c.1087C>G	p.Pro363Ala	p.P363A	ENST00000376552	NM_007005.3	363	Cca/Gca	0	1	1	UPI00001CE3BA	0	NA	ENST00000376552		ENSG00000106829	11840		77	2.53		HGNC	p.P363A		TLE4		SNV							ENST00000376552	protein_coding	getma.org/?cm=var&var=hg19,9,82323525,C,G&fts=all		hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21		P/A		G	medium	2105/3695		getma.org/?cm=msa&ty=f&p=TLE4_HUMAN&rb=342&re=479&var=P363A	tolerated(0.06)	B3KQ29_HUMAN			YES	TLE4,missense_variant,p.Pro395Ala,ENST00000376520,;TLE4,missense_variant,p.Pro294Ala,ENST00000376544,NM_001282753.1;TLE4,missense_variant,p.Pro363Ala,ENST00000376552,NM_007005.3;TLE4,missense_variant,p.Pro395Ala,ENST00000376537,NM_001282748.1;TLE4,missense_variant,p.Pro338Ala,ENST00000265284,NM_001282749.1;TLE4,missense_variant,p.Pro154Ala,ENST00000496114,;TLE4,missense_variant,p.Pro182Ala,ENST00000490347,;TLE4,missense_variant,p.Pro128Ala,ENST00000417836,;TLE4,missense_variant,p.Pro91Ala,ENST00000467142,;TLE4,5_prime_UTR_variant,,ENST00000376534,;TLE4,downstream_gene_variant,,ENST00000428713,;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,;							MODERATE	1087/2322	P363A	TLE4_HUMAN			Transcript		benign(0.41)	.	ENSP00000365735		CCDS43837.1			1	
EIF3L	0	LGGM	GRCh37	22	38274127	38274127	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	38	20	.	.	ENST00000412331.2:c.1524C>T	p.Ala508=	p.A508=	ENST00000412331	NM_016091.3	508	gcC/gcT	0	1	1	UPI00000012D7	0		ENST00000412331		ENSG00000100129	18138		58			HGNC	p.A508A		EIF3L		SNV							ENST00000412331	protein_coding			HAMAP:MF_03011,hmmpanther:PTHR13242,Pfam_domain:PF10255		A		T		2106/3220				Q7Z5X3_HUMAN,C9JHP4_HUMAN,B3KNG0_HUMAN,B0QY89_HUMAN			YES	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,;							LOW	1524/1695		EIF3L_HUMAN			Transcript			.	ENSP00000416892		CCDS13960.1			1	
ANAPC4	0	LGGM	GRCh37	4	25384950	25384950	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	18	22	.	.	ENST00000315368.3:c.303A>G	p.Leu101=	p.L101=	ENST00000315368	NM_013367.2	101	ttA/ttG	0	1	1	UPI000013D583	0		ENST00000315368		ENSG00000053900	19990		40			HGNC	p.L101L		ANAPC4		SNV							ENST00000315368	protein_coding			Gene3D:2.130.10.10,PIRSF_domain:PIRSF037303,hmmpanther:PTHR13260,Superfamily_domains:SSF50978		L		G		445/2685				D6RAP6_HUMAN			YES	ANAPC4,synonymous_variant,p.=,ENST00000315368,NM_013367.2;ANAPC4,synonymous_variant,p.=,ENST00000510092,NM_001286756.1;ANAPC4,synonymous_variant,p.=,ENST00000505991,;ANAPC4,3_prime_UTR_variant,,ENST00000505080,;ANAPC4,downstream_gene_variant,,ENST00000507809,;							LOW	303/2427		APC4_HUMAN			Transcript			.	ENSP00000318775		CCDS3434.1			1	
PPP1R3A	0	LGGM	GRCh37	7	113519697	113519697	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	12	22	.	.	ENST00000284601.3:c.1450T>C	p.Cys484Arg	p.C484R	ENST00000284601	NM_002711.3	484	Tgt/Cgt	0	1	1	UPI000013DDAA	0	NA	ENST00000284601		ENSG00000154415	9291		34	1.7		HGNC	p.C484R		PPP1R3A		SNV			1				ENST00000284601	protein_coding	getma.org/?cm=var&var=hg19,7,113519697,A,G&fts=all		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2		C/R		G	low	1519/4384		getma.org/?cm=msa&ty=f&p=PPR3A_HUMAN&rb=241&re=1120&var=C484R	tolerated(0.3)	C9JZB3_HUMAN			YES	PPP1R3A,missense_variant,p.Cys484Arg,ENST00000284601,NM_002711.3;PPP1R3A,missense_variant,p.Cys163Arg,ENST00000449795,;PPP1R3A,downstream_gene_variant,,ENST00000284602,;							MODERATE	1450/3369	C484R	PPR3A_HUMAN			Transcript		benign(0.014)	.	ENSP00000284601		CCDS5759.1			1	
GPR17	0	LGGM	GRCh37	2	128408552	128408552	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	11	23	.	.	ENST00000544369.1:c.327G>A	p.Val109=	p.V109=	ENST00000544369	NM_001161415.1	109	gtG/gtA	0	1		UPI0000050432	0		ENST00000272644		ENSG00000144230	4471		34			HGNC	p.V109V		GPR17		SNV							ENST00000423019	protein_coding			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		V		A		401/2062				G4XH68_HUMAN,C9JWY5_HUMAN				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,;GPR17,synonymous_variant,p.=,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,;							LOW	327/1104		GPR17_HUMAN			Transcript			.	ENSP00000272644		CCDS2148.1			1	
ARHGAP31	0	LGGM	GRCh37	3	119133285	119133285	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	26	23	.	.	ENST00000264245.4:c.2509G>T	p.Glu837Ter	p.E837*	ENST00000264245	NM_020754.2	837	Gag/Tag	0	1	1	UPI00001C1DFD	0	NA	ENST00000264245		ENSG00000031081	29216		49	0		HGNC	p.E837X		ARHGAP31		SNV			1				ENST00000264245	protein_coding	getma.org/?cm=var&var=hg19,3,119133285,G,T&fts=all		hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729		E/*		T	NA	3041/9317		NA					YES	ARHGAP31,stop_gained,p.Glu837Ter,ENST00000264245,NM_020754.2;							HIGH	2509/4335	E837*	RHG31_HUMAN			Transcript			.	ENSP00000264245		CCDS43135.1			1	
PCDHGA12	0	LGGM	GRCh37	5	140812283	140812283	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	46	25	.	.	ENST00000252085.3:c.1957C>T	p.Pro653Ser	p.P653S	ENST00000252085	NM_003735.2	653	Cct/Tct	0	1	1	UPI0000073EA1	0	getma.org/pdb.php?prot=PCDGC_HUMAN&from=578&to=665&var=P653S	ENST00000252085		ENSG00000253159	8699		71	0.79		HGNC	p.P653S		PCDHGA12		SNV							ENST00000252085	protein_coding	getma.org/?cm=var&var=hg19,5,140812283,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/S		T	neutral	2099/4747		getma.org/?cm=msa&ty=f&p=PCDGC_HUMAN&rb=578&re=665&var=P653S	deleterious_low_confidence(0.01)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA12,missense_variant,p.Pro653Ser,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;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;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;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;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,;							MODERATE	1957/2799	P653S	PCDGC_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000252085		CCDS4260.1			1	
LRRC6	0	LGGM	GRCh37	8	133584600	133584600	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	46	25	.	.	ENST00000250173.1:c.1355A>C	p.Glu452Ala	p.E452A	ENST00000250173		452	gAa/gCa	0	1		UPI000000DBC5	0	NA	ENST00000519595		ENSG00000129295	16725		71	2.075		HGNC	p.E452A		LRRC6		SNV			1				ENST00000519595	protein_coding	getma.org/?cm=var&var=hg19,8,133584600,T,G&fts=all		hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF114		E/A		G	medium	1454/1734		getma.org/?cm=msa&ty=f&p=TILB_HUMAN&rb=401&re=466&var=E452A	tolerated(0.24)					LRRC6,missense_variant,p.Glu452Ala,ENST00000519595,NM_012472.4;LRRC6,missense_variant,p.Glu452Ala,ENST00000250173,;LRRC6,missense_variant,p.Glu192Ala,ENST00000522789,;LRRC6,3_prime_UTR_variant,,ENST00000518642,;LRRC6,downstream_gene_variant,,ENST00000522597,;							MODERATE	1355/1401	E452A	TILB_HUMAN			Transcript		benign(0.02)	.	ENSP00000429791					1	
KRT36	0	LGGM	GRCh37	17	39645934	39645934	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	41	25	.	.	ENST00000328119.6:c.183C>T	p.Ser61=	p.S61=	ENST00000328119	NM_003771.4	61	agC/agT	0	1	1	UPI000012DAFA	0		ENST00000328119		ENSG00000126337	6454		66			HGNC	p.S61S	rs753320791	KRT36		SNV							ENST00000328119	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23239:SF144,hmmpanther:PTHR23239		S		A		183/1644	1.50E-05						YES	KRT36,synonymous_variant,p.=,ENST00000393986,;KRT36,synonymous_variant,p.=,ENST00000328119,NM_003771.4;							LOW	183/1404		KRT36_HUMAN			Transcript			.	ENSP00000329165	8.24E-06	CCDS11395.1			1	
UFL1	0	LGGM	GRCh37	6	96999340	96999340	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	48	27	.	.	ENST00000369278.4:c.1850A>T	p.Glu617Val	p.E617V	ENST00000369278	NM_015323.4	617	gAa/gTa	0	1	1	UPI0000072D61	0	NA	ENST00000369278		ENSG00000014123	23039		75	2.25		HGNC	p.E617V		UFL1		SNV							ENST00000369278	protein_coding	getma.org/?cm=var&var=hg19,6,96999340,A,T&fts=all		hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0		E/V		T	medium	1916/4224		getma.org/?cm=msa&ty=f&p=UFL1_HUMAN&rb=486&re=685&var=E617V	deleterious(0.02)	B7ZAY8_HUMAN			YES	UFL1,missense_variant,p.Glu617Val,ENST00000369278,NM_015323.4;							MODERATE	1850/2385	E617V	UFL1_HUMAN			Transcript		benign(0.367)	.	ENSP00000358283		CCDS5034.1			1	
MAGEE1	0	LGGM	GRCh37	X	75651135	75651135	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	28	28	.	.	ENST00000361470.2:c.2812G>A	p.Glu938Lys	p.E938K	ENST00000361470	NM_020932.2	938	Gaa/Aaa	0	1	1	UPI000006F138	0	getma.org/pdb.php?prot=MAGE1_HUMAN&from=915&to=957&var=E938K	ENST00000361470		ENSG00000198934	24934		56	0.39		HGNC	p.E938K	COSM3845390,COSM3845389	MAGEE1		SNV						1,1	ENST00000361470	protein_coding	getma.org/?cm=var&var=hg19,X,75651135,G,A&fts=all				E/K		A	neutral	3090/3699		getma.org/?cm=msa&ty=f&p=MAGE1_HUMAN&rb=915&re=957&var=E938K	tolerated(0.12)	Q5JXC7_HUMAN			YES	MAGEE1,missense_variant,p.Glu938Lys,ENST00000361470,NM_020932.2;					1,1		MODERATE	2812/2874	E938K	MAGE1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000354912		CCDS14433.1			1	
SGMS2	0	LGGM	GRCh37	4	108829869	108829869	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	33	28	.	.	ENST00000394684.4:c.876T>C	p.His292=	p.H292=	ENST00000394684	NM_001136258.1	292	caT/caC	0	1		UPI000000D9A6	0		ENST00000359079		ENSG00000164023	28395		61			HGNC	p.H292H		SGMS2		SNV							ENST00000359079	protein_coding			hmmpanther:PTHR21290:SF24,hmmpanther:PTHR21290,Pfam_domain:PF14360		H		C		1265/1887				E5RJU3_HUMAN,E5RJ63_HUMAN,E5RGG5_HUMAN				SGMS2,synonymous_variant,p.=,ENST00000394684,NM_001136258.1;SGMS2,synonymous_variant,p.=,ENST00000394686,NM_152621.5;SGMS2,synonymous_variant,p.=,ENST00000359079,NM_001136257.1;SGMS2,synonymous_variant,p.=,ENST00000503862,;RP11-286E11.1,intron_variant,,ENST00000499098,;RP11-286E11.1,intron_variant,,ENST00000513071,;SGMS2,downstream_gene_variant,,ENST00000504754,;							LOW	876/1098		SMS2_HUMAN			Transcript			.	ENSP00000351981		CCDS3677.1			1	
DDX6	0	LGGM	GRCh37	11	118627011	118627011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	51	28	.	.	ENST00000264018.4:c.1132C>A	p.His378Asn	p.H378N	ENST00000264018	NM_004397.4	378	Cat/Aat	0	1		UPI000013D4A2	0	getma.org/pdb.php?prot=DDX6_HUMAN&from=352&to=429&var=H378N	ENST00000526070		ENSG00000110367	2747		79	-0.34		HGNC	p.H378N		DDX6		SNV							ENST00000264018	protein_coding	getma.org/?cm=var&var=hg19,11,118627011,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF214,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540		H/N		T	neutral	1493/1936		getma.org/?cm=msa&ty=f&p=DDX6_HUMAN&rb=352&re=429&var=H378N	tolerated(0.08)	B2R858_HUMAN				DDX6,missense_variant,p.His378Asn,ENST00000264018,NM_004397.4;DDX6,missense_variant,p.His378Asn,ENST00000534980,;DDX6,missense_variant,p.His378Asn,ENST00000526070,NM_001257191.1;DDX6,non_coding_transcript_exon_variant,,ENST00000529162,;							MODERATE	1132/1452	H378N	DDX6_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000433704		CCDS44751.1			1	
COLEC10	0	LGGM	GRCh37	8	120116107	120116107	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	32	30	.	.	ENST00000332843.2:c.415A>T	p.Lys139Ter	p.K139*	ENST00000332843	NM_006438.3	139	Aag/Tag	0	1	1	UPI00001B01DD	0	NA	ENST00000332843		ENSG00000184374	2220		62	0		HGNC	p.K139X		COLEC10		SNV							ENST00000332843	protein_coding	getma.org/?cm=var&var=hg19,8,120116107,A,T&fts=all		hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF17		K/*		T	NA	456/1266		NA					YES	COLEC10,stop_gained,p.Lys139Ter,ENST00000332843,NM_006438.3;COLEC10,downstream_gene_variant,,ENST00000521788,;							HIGH	415/834	K139*	COL10_HUMAN			Transcript			.	ENSP00000332723		CCDS6327.1			1	
STIP1	0	LGGM	GRCh37	11	63961754	63961754	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	34	32	.	.	ENST00000305218.4:c.313A>C	p.Asn105His	p.N105H	ENST00000305218	NM_006819.2	105	Aac/Cac	0	1	1	UPI000012D225	0	getma.org/pdb.php?prot=STIP1_HUMAN&from=72&to=105&var=N105H	ENST00000305218		ENSG00000168439	11387		66	3.35		HGNC	p.N105H		STIP1		SNV							ENST00000305218	protein_coding	getma.org/?cm=var&var=hg19,11,63961754,A,C&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF296,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452		N/H		C	medium	460/2196		getma.org/?cm=msa&ty=f&p=STIP1_HUMAN&rb=72&re=105&var=N105H	deleterious(0)				YES	STIP1,missense_variant,p.Asn152His,ENST00000358794,NM_001282652.1;STIP1,missense_variant,p.Asn105His,ENST00000305218,NM_006819.2;STIP1,missense_variant,p.Asn81His,ENST00000538945,NM_001282653.1;STIP1,missense_variant,p.Asn105His,ENST00000543847,;STIP1,non_coding_transcript_exon_variant,,ENST00000540501,;STIP1,upstream_gene_variant,,ENST00000537479,;STIP1,upstream_gene_variant,,ENST00000544739,;STIP1,missense_variant,p.Asn105His,ENST00000536973,;STIP1,upstream_gene_variant,,ENST00000538497,;STIP1,downstream_gene_variant,,ENST00000540736,;							MODERATE	313/1632	N105H	STIP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305958		CCDS8058.1			1	
ADAMTS19	0	LGGM	GRCh37	5	128864364	128864364	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	25	33	.	.	ENST00000274487.4:c.1304T>A	p.Ile435Lys	p.I435K	ENST00000274487	NM_133638.3	435	aTa/aAa	0	1	1	UPI000013DA0D	0	getma.org/pdb.php?prot=ATS19_HUMAN&from=325&to=545&var=I435K	ENST00000274487		ENSG00000145808	17111		58	2.065		HGNC	p.I435K		ADAMTS19		SNV							ENST00000274487	protein_coding	getma.org/?cm=var&var=hg19,5,128864364,T,A&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		I/K		A	medium	1449/5234		getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=325&re=545&var=I435K	deleterious(0)				YES	ADAMTS19,missense_variant,p.Ile435Lys,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,downstream_gene_variant,,ENST00000505791,;ADAMTS19,downstream_gene_variant,,ENST00000502709,;							MODERATE	1304/3624	I435K	ATS19_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000274487		CCDS4146.1			1	
OGDH	0	LGGM	GRCh37	7	44747267	44747267	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	30	33	.	.	ENST00000222673.5:c.2883G>A	p.Lys961=	p.K961=	ENST00000222673	NM_002541.3	961	aaG/aaA	0	1	1	UPI000006D5FE	0		ENST00000222673		ENSG00000105953	8124		63			HGNC	p.K811K		OGDH		SNV							ENST00000439616	protein_coding			PIRSF_domain:PIRSF000157,TIGRFAM_domain:TIGR00239,hmmpanther:PTHR23152:SF7,hmmpanther:PTHR23152		K		A		2925/4181				C9J4G7_HUMAN			YES	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,;							LOW	2883/3072		ODO1_HUMAN			Transcript			.	ENSP00000222673		CCDS34627.1			1	
PGA5	0	LGGM	GRCh37	11	61015949	61015949	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	44	34	.	.	ENST00000312403.5:c.715G>T	p.Gly239Ter	p.G239*	ENST00000312403	NM_014224.2	239	Gga/Tga	0	1	1	UPI000006CE33	0	NA	ENST00000312403		ENSG00000256713	8887		78	0		HGNC	p.G239X		PGA5		SNV							ENST00000422676	protein_coding	getma.org/?cm=var&var=hg19,11,61015949,G,T&fts=all		hmmpanther:PTHR13683:SF239,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630		G/*		T	NA	900/1519		NA		F5GWT0_HUMAN			YES	PGA5,stop_gained,p.Gly239Ter,ENST00000312403,NM_014224.2;PGA4,stop_gained,p.Gly239Ter,ENST00000422676,;PGA5,stop_gained,p.Gly85Ter,ENST00000451616,;PGA5,upstream_gene_variant,,ENST00000541528,;CTD-2331C18.5,non_coding_transcript_exon_variant,,ENST00000537594,;PGA5,downstream_gene_variant,,ENST00000536269,;PGA5,downstream_gene_variant,,ENST00000535568,;							HIGH	715/1167	G239*	PEPA5_HUMAN			Transcript			.	ENSP00000309542		CCDS8001.1			1	
FAM161B	0	LGGM	GRCh37	14	74413267	74413267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	58	35	.	.	ENST00000286544.3:c.285G>T	p.Glu95Asp	p.E95D	ENST00000286544	NM_152445.2	95	gaG/gaT	0	1	1	UPI000206535E	0	NA	ENST00000286544		ENSG00000156050	19854		93	0.695		HGNC	p.E95D		FAM161B		SNV							ENST00000286544	protein_coding	getma.org/?cm=var&var=hg19,14,74413267,C,A&fts=all		hmmpanther:PTHR21501:SF4,hmmpanther:PTHR21501		E/D		A	neutral	484/4078		getma.org/?cm=msa&ty=f&p=F161B_HUMAN&rb=1&re=166&var=E32D	tolerated(0.26)				YES	FAM161B,missense_variant,p.Glu95Asp,ENST00000286544,NM_152445.2;FAM161B,missense_variant,p.Glu32Asp,ENST00000534936,;COQ6,upstream_gene_variant,,ENST00000334571,NM_182476.2;COQ6,upstream_gene_variant,,ENST00000394026,NM_182480.2;COQ6,upstream_gene_variant,,ENST00000238709,;COQ6,upstream_gene_variant,,ENST00000554320,;COQ6,upstream_gene_variant,,ENST00000554920,;COQ6,upstream_gene_variant,,ENST00000555552,;COQ6,upstream_gene_variant,,ENST00000554341,;COQ6,upstream_gene_variant,,ENST00000553462,;COQ6,upstream_gene_variant,,ENST00000556300,;COQ6,upstream_gene_variant,,ENST00000557205,;COQ6,upstream_gene_variant,,ENST00000557584,;COQ6,upstream_gene_variant,,ENST00000553922,;COQ6,upstream_gene_variant,,ENST00000555196,;COQ6,upstream_gene_variant,,ENST00000554193,;COQ6,upstream_gene_variant,,ENST00000554217,;COQ6,upstream_gene_variant,,ENST00000554153,;							MODERATE	285/2133	E32D	F161B_HUMAN			Transcript		benign(0.02)	.	ENSP00000286544		CCDS9822.2			1	
CTNNA2	0	LGGM	GRCh37	2	80085145	80085145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	49	35	.	.	ENST00000466387.1:c.305C>T	p.Thr102Met	p.T102M	ENST00000466387		102	aCg/aTg	0	1		UPI0000D9D4EC	0	getma.org/pdb.php?prot=CTNA2_HUMAN&from=18&to=337&var=T102M	ENST00000402739		ENSG00000066032	2510		84	2.015		HGNC	p.T102M	rs748889262	CTNNA2		SNV							ENST00000541047	protein_coding	getma.org/?cm=var&var=hg19,2,80085145,C,T&fts=all		Superfamily_domains:SSF47220,Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		T/M		T	medium	310/3684	3.01E-05	getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=18&re=337&var=T102M	tolerated(0.08)	C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,missense_variant,p.Thr102Met,ENST00000466387,;CTNNA2,missense_variant,p.Thr102Met,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Thr102Met,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Thr102Met,ENST00000541047,;CTNNA2,missense_variant,p.Thr136Met,ENST00000361291,;CTNNA2,missense_variant,p.Thr102Met,ENST00000540488,;CTNNA2,missense_variant,p.Thr102Met,ENST00000409971,;							MODERATE	305/2862	T102M	CTNA2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000384638	1.65E-05	CCDS62944.1			1	
SYCP1	0	LGGM	GRCh37	1	115428862	115428862	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	58	35	.	.	ENST00000369522.3:c.1122G>T	p.Ser374=	p.S374=	ENST00000369522	NM_003176.2	374	tcG/tcT	0	1		UPI00001CE3B9	0		ENST00000369518		ENSG00000198765	11487		93			HGNC	p.S374S	rs142129523	SYCP1		SNV	A:0						ENST00000369518	protein_coding			Pfam_domain:PF05483,hmmpanther:PTHR18878		S	A:0.0001	T		1295/3452				Q5VXJ5_HUMAN				SYCP1,synonymous_variant,p.=,ENST00000369522,NM_003176.2,NM_001282541.1;SYCP1,synonymous_variant,p.=,ENST00000369518,;SYCP1,synonymous_variant,p.=,ENST00000455987,;	0.000462						LOW	1122/2931		SYCP1_HUMAN			Transcript			common_variant	ENSP00000358531	3.29E-05	CCDS879.1			1	
SMARCAL1	0	LGGM	GRCh37	2	217329348	217329348	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	43	40	.	.	ENST00000357276.4:c.2099T>G	p.Leu700Arg	p.L700R	ENST00000357276	NM_014140.3	700	cTc/cGc	0	1	1	UPI000000DA30	0	NA	ENST00000357276		ENSG00000138375	11102		83	0.6		HGNC	p.L700R		SMARCAL1		SNV			1				ENST00000357276	protein_coding	getma.org/?cm=var&var=hg19,2,217329348,T,G&fts=all		hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799,Superfamily_domains:SSF52540		L/R		G	neutral	2429/3271		getma.org/?cm=msa&ty=f&p=SMAL1_HUMAN&rb=439&re=708&var=L700R	deleterious(0.05)	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN			YES	SMARCAL1,missense_variant,p.Leu700Arg,ENST00000357276,NM_014140.3;SMARCAL1,missense_variant,p.Leu700Arg,ENST00000358207,NM_001127207.1;SMARCAL1,missense_variant,p.Leu542Arg,ENST00000392128,;							MODERATE	2099/2865	L700R	SMAL1_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000349823		CCDS2403.1			1	
SEMA6D	0	LGGM	GRCh37	15	48058202	48058202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	51	43	.	.	ENST00000316364.5:c.1564A>G	p.Lys522Glu	p.K522E	ENST00000316364	NM_153618.1	522	Aaa/Gaa	0	1	1	UPI000006E201	0	getma.org/pdb.php?prot=SEM6D_HUMAN&from=514&to=573&var=K522E	ENST00000316364		ENSG00000137872	16770		94	1.935		HGNC	p.K522E	rs781367591	SEMA6D		SNV							ENST00000355997	protein_coding	getma.org/?cm=var&var=hg19,15,48058202,A,G&fts=all		Superfamily_domains:SSF103575,SMART_domains:SM00423,Pfam_domain:PF01437,Gene3D:3.30.1680.10,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65		K/E		G	medium	2003/6099	1.54E-05	getma.org/?cm=msa&ty=f&p=SEM6D_HUMAN&rb=514&re=573&var=K522E	deleterious(0)	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN			YES	SEMA6D,missense_variant,p.Lys522Glu,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Lys522Glu,ENST00000389433,;SEMA6D,missense_variant,p.Lys522Glu,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Lys522Glu,ENST00000389432,;SEMA6D,missense_variant,p.Lys522Glu,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Lys522Glu,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Lys522Glu,ENST00000355997,NM_153619.1;SEMA6D,missense_variant,p.Lys522Glu,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Lys522Glu,ENST00000537942,;SEMA6D,missense_variant,p.Lys522Glu,ENST00000558816,;SEMA6D,missense_variant,p.Lys522Glu,ENST00000536845,;SEMA6D,downstream_gene_variant,,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,non_coding_transcript_exon_variant,,ENST00000558431,;							MODERATE	1564/3222	K522E	SEM6D_HUMAN			Transcript		benign(0.365)	.	ENSP00000324857	8.24E-06	CCDS32225.1			1	
USP2	0	LGGM	GRCh37	11	119243827	119243827	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	35	44	.	.	ENST00000260187.2:c.364C>G	p.Leu122Val	p.L122V	ENST00000260187	NM_004205.4	122	Ctc/Gtc	0	1	1	UPI00001379D8	0	NA	ENST00000260187		ENSG00000036672	12618		79	0.55		HGNC	p.L122V		USP2		SNV							ENST00000527843	protein_coding	getma.org/?cm=var&var=hg19,11,119243827,G,C&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396		L/V		C	neutral	659/3732		getma.org/?cm=msa&ty=f&p=UBP2_HUMAN&rb=1&re=245&var=L122V	tolerated_low_confidence(0.22)	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN			YES	USP2,missense_variant,p.Leu122Val,ENST00000260187,NM_004205.4;USP2,missense_variant,p.Leu122Val,ENST00000531070,;USP2,missense_variant,p.Leu122Val,ENST00000527843,;USP2,intron_variant,,ENST00000455332,NM_001243759.1;RP11-334E6.3,non_coding_transcript_exon_variant,,ENST00000530918,;							MODERATE	364/1818	L122V	UBP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000260187		CCDS8422.1			1	
PECR	0	LGGM	GRCh37	2	216914049	216914049	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072441	H072441N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	76	51	.	.	ENST00000265322.7:c.651A>G	p.Gly217=	p.G217=	ENST00000265322	NM_018441.5	217	ggA/ggG	0	1	1	UPI000004C794	0		ENST00000265322		ENSG00000115425	18281		127			HGNC	p.G217G		PECR		SNV							ENST00000265322	protein_coding			hmmpanther:PTHR24317,Pfam_domain:PF13561,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		G		C		726/1853							YES	PECR,synonymous_variant,p.=,ENST00000265322,NM_018441.5;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,non_coding_transcript_exon_variant,,ENST00000464737,;PECR,3_prime_UTR_variant,,ENST00000442122,;PECR,non_coding_transcript_exon_variant,,ENST00000461330,;							LOW	651/912		PECR_HUMAN			Transcript			.	ENSP00000265322		CCDS33375.1			1	
ZC3H12C	0	LGGM	GRCh37	11	110035901	110035901	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072441	H072441N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	107	51	.	.	ENST00000278590.3:c.2091C>T	p.Phe697=	p.F697=	ENST00000278590	NM_033390.1	697	ttC/ttT	0	1	1	UPI0000DD80B8	0		ENST00000278590		ENSG00000149289	29362		158			HGNC	p.F698F		ZC3H12C		SNV							ENST00000528673	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24		F		T		2142/8807				E9PP00_HUMAN			YES	ZC3H12C,synonymous_variant,p.=,ENST00000453089,;ZC3H12C,synonymous_variant,p.=,ENST00000278590,NM_033390.1;ZC3H12C,synonymous_variant,p.=,ENST00000528673,;							LOW	2091/2652		ZC12C_HUMAN			Transcript			.	ENSP00000278590		CCDS44727.1			1	
TTN	0	LGGM	GRCh37	2	179605067	179605067	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	84	57	.	.	ENST00000589042.1:c.12893C>A	p.Thr4298Lys	p.T4298K	ENST00000589042	NM_001267550.1	4298	aCa/aAa	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		141	0.695		HGNC	p.T4060K		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179605067,G,T&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		T/K		T	neutral	12167/104301		getma.org/?cm=msa&ty=f&p=D3DPF9_HUMAN&rb=3866&re=4065&var=T3935K		C9JQJ2_HUMAN				TTN,missense_variant,p.Thr4298Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr3981Lys,ENST00000591111,;TTN,missense_variant,p.Thr4127Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr4060Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr3935Lys,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,;							MODERATE	11942/103053	T3935K	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CYFIP2	0	LGGM	GRCh37	5	156753276	156753276	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	88	60	.	.	ENST00000521420.1:c.2001+1G>T		p.X667_splice	ENST00000521420				0	1	1	UPI0001D55E6B	0		ENST00000521420		ENSG00000055163	13760		148			HGNC	-		CYFIP2		SNV							ENST00000523969	protein_coding							T		-/6370				E7EVJ5_HUMAN			YES	CYFIP2,splice_donor_variant,,ENST00000347377,NM_001037332.2;CYFIP2,splice_donor_variant,,ENST00000377576,NM_014376.2;CYFIP2,splice_donor_variant,,ENST00000318218,;CYFIP2,splice_donor_variant,,ENST00000521420,;CYFIP2,splice_donor_variant,,ENST00000541131,;CYFIP2,splice_donor_variant,,ENST00000435847,;CYFIP2,splice_donor_variant,,ENST00000442283,NM_001037333.1;CYFIP2,splice_donor_variant,,ENST00000522463,;CYFIP2,splice_donor_variant,,ENST00000520960,;CYFIP2,splice_donor_variant,,ENST00000519153,;CYFIP2,splice_donor_variant,,ENST00000523969,;CYFIP2,splice_donor_variant,,ENST00000520759,;CYFIP2,splice_donor_variant,,ENST00000517753,;CYFIP2,splice_donor_variant,,ENST00000523119,;CYFIP2,splice_donor_variant,,ENST00000518555,;CYFIP2,upstream_gene_variant,,ENST00000520424,;							HIGH	2001/3684					Transcript			.	ENSP00000430904					1	
PRUNE2	0	LGGM	GRCh37	9	79252335	79252335	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072441	H072441N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	119	65	.	.	ENST00000376718.3:c.8962C>T	p.Arg2988Trp	p.R2988W	ENST00000376718	NM_015225.2	2988	Cgg/Tgg	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209	0.000173	184	3.31		HGNC	p.R2988W	rs781546930	PRUNE2		SNV				0.000206			ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79252335,G,A&fts=all		PROSITE_profiles:PS50191,hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF13716,Gene3D:3.40.525.10,SMART_domains:SM00516,Superfamily_domains:SSF52087		R/W		A	medium	9086/12584	4.53E-05	getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=2912&re=3054&var=R2988W	deleterious(0)				YES	PRUNE2,missense_variant,p.Arg2630Trp,ENST00000428286,;PRUNE2,missense_variant,p.Arg2988Trp,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Arg2313Trp,ENST00000426088,;PRUNE2,missense_variant,p.Arg253Trp,ENST00000376717,;PRUNE2,missense_variant,p.Arg237Trp,ENST00000443509,;PRUNE2,missense_variant,p.Arg253Trp,ENST00000223609,;PRUNE2,missense_variant,p.Arg161Trp,ENST00000424866,;PRUNE2,intron_variant,,ENST00000466266,;PRUNE2,downstream_gene_variant,,ENST00000494975,;							MODERATE	8962/9267	R2988W	PRUN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000365908	5.81E-05	CCDS47982.1			1	
MUC16	0	LGGM	GRCh37	19	9057734	9057734	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072441	H072441N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072441N.bam, H072441T.bam	Illumina HiSeq	99	77	.	.	ENST00000397910.4:c.29712T>A	p.Ser9904Arg	p.S9904R	ENST00000397910	NM_024690.2	9904	agT/agA	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		176	0.345		HGNC	p.S9904R		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9057734,A,T&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		S/R		T	neutral	29916/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=9868&re=9959&var=S9906R		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser9904Arg,ENST00000397910,NM_024690.2;							MODERATE	29712/43524	S9906R				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
ANKRD20A1	0	LGGM	GRCh37	9	67968424	67968424	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	12	2	.	.	ENST00000377477.2:c.1983T>G	p.Thr661=	p.T661=	ENST00000377477	NM_032250.3	661	acT/acG	0	1	1	UPI0000457755	0		ENST00000377477		ENSG00000196774	23665		14			HGNC	p.T661T		ANKRD20A1		SNV							ENST00000377477	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Pfam_domain:PF14915		T		G		2095/3511							YES	ANKRD20A1,synonymous_variant,p.=,ENST00000377477,NM_032250.3;RP11-195B21.3,upstream_gene_variant,,ENST00000417488,;							LOW	1983/2472		A20A1_HUMAN			Transcript			.	ENSP00000366697		CCDS6620.1			1	
WHAMM	0	LGGM	GRCh37	15	83488110	83488110	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	4	2	.	.	ENST00000286760.4:c.1140del	p.Asn380LysfsTer3	p.N380Kfs*3	ENST00000286760	NM_001080435.1	380	aaT/aa	0	1	1	UPI00001C1F94	0		ENST00000286760		ENSG00000156232	30493		6			HGNC	p.N380fs		WHAMM		deletion							ENST00000286760	protein_coding			hmmpanther:PTHR23330,hmmpanther:PTHR23330:SF6		N/X		-		1239/3852							YES	WHAMM,frameshift_variant,p.Asn380LysfsTer3,ENST00000286760,NM_001080435.1;WHAMM,non_coding_transcript_exon_variant,,ENST00000560964,;							HIGH	1140/2430		WHAMM_HUMAN			Transcript			.	ENSP00000286760		CCDS45333.1			1	
ZNF704	0	LGGM	GRCh37	8	81577315	81577315	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	16	2	.	.	ENST00000327835.3:c.662G>T	p.Arg221Leu	p.R221L	ENST00000327835	NM_001033723.2	221	cGc/cTc	0	1	1	UPI000035E754	0	NA	ENST00000327835		ENSG00000164684	32291		18	2.08		HGNC	p.R221L		ZNF704		SNV							ENST00000327835	protein_coding	getma.org/?cm=var&var=hg19,8,81577315,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR13006,hmmpanther:PTHR13006:SF7		R/L		A	medium	894/14386		getma.org/?cm=msa&ty=f&p=ZN704_HUMAN&rb=1&re=228&var=R221L	deleterious(0.03)	E5RGL7_HUMAN			YES	ZNF704,missense_variant,p.Arg221Leu,ENST00000327835,NM_001033723.2;ZNF704,splice_region_variant,,ENST00000520336,;ZNF704,splice_region_variant,,ENST00000522040,;							MODERATE	662/1239	R221L	ZN704_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000331462		CCDS34913.1			1	
IFT140	0	LGGM	GRCh37	16	1573656	1573656	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	15	3	.	.	ENST00000426508.2:c.3316C>A	p.Gln1106Lys	p.Q1106K	ENST00000426508	NM_014714.3	1106	Cag/Aag	0	1	1	UPI0000073C64	0	NA	ENST00000426508		ENSG00000187535	29077		18	2.72		HGNC	p.Q1106K		IFT140		SNV			1				ENST00000426508	protein_coding	getma.org/?cm=var&var=hg19,16,1573656,G,T&fts=all		hmmpanther:PTHR15722		Q/K		T	medium	3680/5270		getma.org/?cm=msa&ty=f&p=IF140_HUMAN&rb=932&re=1131&var=Q1106K	deleterious(0)	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN			YES	IFT140,missense_variant,p.Gln1106Lys,ENST00000426508,NM_014714.3;IFT140,missense_variant,p.Gln300Lys,ENST00000361339,;IFT140,upstream_gene_variant,,ENST00000568837,;IFT140,3_prime_UTR_variant,,ENST00000397417,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;IFT140,downstream_gene_variant,,ENST00000566818,;							MODERATE	3316/4389	Q1106K	IF140_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000406012		CCDS10439.1			1	
B3GALNT2	0	LGGM	GRCh37	1	235643420	235643420	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	16	3	.	.	ENST00000366600.3:c.601C>T	p.Gln201Ter	p.Q201*	ENST00000366600	NM_152490.3	201	Cag/Tag	0	1	1	UPI0000071B30	0	NA	ENST00000366600		ENSG00000162885	28596		19	0		HGNC	p.Q201X		B3GALNT2		SNV			1				ENST00000366600	protein_coding	getma.org/?cm=var&var=hg19,1,235643420,G,A&fts=all		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF79		Q/*		A	NA	830/2015		NA					YES	B3GALNT2,stop_gained,p.Gln201Ter,ENST00000366600,NM_152490.3;B3GALNT2,stop_gained,p.Gln242Ter,ENST00000313984,NM_001277155.1;B3GALNT2,non_coding_transcript_exon_variant,,ENST00000494378,;B3GALNT2,non_coding_transcript_exon_variant,,ENST00000461994,;B3GALNT2,3_prime_UTR_variant,,ENST00000478199,;							HIGH	601/1503	Q201*	B3GL2_HUMAN			Transcript			.	ENSP00000355559		CCDS1606.1			1	
MAP2	0	LGGM	GRCh37	2	210574959	210574959	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	4	3	.	.	ENST00000360351.4:c.5054A>G	p.Tyr1685Cys	p.Y1685C	ENST00000360351	NM_002374.3	1685	tAc/tGc	0	1	1	UPI000013D119	0	NA	ENST00000360351		ENSG00000078018	6839		7	1.845		HGNC	p.Y386C		MAP2		SNV							ENST00000199940	protein_coding	getma.org/?cm=var&var=hg19,2,210574959,A,G&fts=all		PROSITE_profiles:PS51491,hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF00418		Y/C		G	low	5560/9711		getma.org/?cm=msa&ty=f&p=MAP2_HUMAN&rb=1660&re=1691&var=Y1685C	deleterious(0)	A8MZ31_HUMAN			YES	MAP2,missense_variant,p.Tyr1685Cys,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Tyr1681Cys,ENST00000447185,;MAP2,missense_variant,p.Tyr329Cys,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,missense_variant,p.Tyr386Cys,ENST00000199940,NM_001039538.1;MAP2,missense_variant,p.Tyr329Cys,ENST00000361559,;MAP2,downstream_gene_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;MAP2,non_coding_transcript_exon_variant,,ENST00000471619,;MAP2,non_coding_transcript_exon_variant,,ENST00000473543,;MAP2,non_coding_transcript_exon_variant,,ENST00000478233,;MAP2,downstream_gene_variant,,ENST00000464007,;							MODERATE	5054/5484	Y1685C	MTAP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353508		CCDS2384.1			1	
EFR3A	0	LGGM	GRCh37	8	132952782	132952782	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	13	3	.	.	ENST00000254624.5:c.47A>G	p.Tyr16Cys	p.Y16C	ENST00000254624	NM_015137.4	16	tAc/tGc	0	1	1	UPI00001C1E8F	0	NA	ENST00000254624		ENSG00000132294	28970		16	2.415		HGNC	p.Y16C		EFR3A		SNV							ENST00000334503	protein_coding	getma.org/?cm=var&var=hg19,8,132952782,A,G&fts=all		hmmpanther:PTHR12444,hmmpanther:PTHR12444:SF1		Y/C		G	medium	272/5438		getma.org/?cm=msa&ty=f&p=EFR3A_HUMAN&rb=2&re=819&var=Y16C	deleterious(0)	E5RJS1_HUMAN,B4DZ89_HUMAN			YES	EFR3A,missense_variant,p.Tyr16Cys,ENST00000254624,NM_015137.4;EFR3A,missense_variant,p.Tyr16Cys,ENST00000334503,;EFR3A,5_prime_UTR_variant,,ENST00000519656,;EFR3A,5_prime_UTR_variant,,ENST00000522709,;EFR3A,5_prime_UTR_variant,,ENST00000520362,;							MODERATE	47/2466	Y16C	EFR3A_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000254624		CCDS34942.2			1	
MED24	0	LGGM	GRCh37	17	38176716	38176716	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	4	3	.	.	ENST00000394128.2:c.2624-110A>T		*875*	ENST00000394128	NM_014815.3			0	1	1	UPI000013677A	0		ENST00000394128		ENSG00000008838	22963		7			HGNC	p.P141P		MED24		SNV							ENST00000422942	protein_coding							A		-/3479				J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN			YES	MED24,synonymous_variant,p.=,ENST00000422942,;MED24,intron_variant,,ENST00000394126,;MED24,intron_variant,,ENST00000394128,NM_014815.3;MED24,intron_variant,,ENST00000394127,NM_001079518.1;MED24,intron_variant,,ENST00000356271,NM_001267797.1;MED24,intron_variant,,ENST00000501516,;MED24,downstream_gene_variant,,ENST00000535071,;MED24,downstream_gene_variant,,ENST00000580885,;CSF3,downstream_gene_variant,,ENST00000331769,;CSF3,downstream_gene_variant,,ENST00000394149,NM_172219.2,NM_000759.3;CSF3,downstream_gene_variant,,ENST00000225474,;CSF3,downstream_gene_variant,,ENST00000577675,;CSF3,downstream_gene_variant,,ENST00000394148,NM_172220.2;CSF3,downstream_gene_variant,,ENST00000583218,;MED24,intron_variant,,ENST00000470126,;MED24,non_coding_transcript_exon_variant,,ENST00000579364,;MED24,intron_variant,,ENST00000535508,;MED24,intron_variant,,ENST00000491466,;CSF3,downstream_gene_variant,,ENST00000579852,;CSF3,downstream_gene_variant,,ENST00000479880,;MED24,downstream_gene_variant,,ENST00000492176,;CSF3,downstream_gene_variant,,ENST00000582798,;MED24,downstream_gene_variant,,ENST00000580720,;MED24,downstream_gene_variant,,ENST00000581058,;							MODIFIER	-/2970		MED24_HUMAN			Transcript			.	ENSP00000377686		CCDS11359.1			1	
CBX6	0	LGGM	GRCh37	22	39262987	39262987	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	6	3	.	.	ENST00000407418.3:c.466del	p.Thr156ArgfsTer9	p.T156Rfs*9	ENST00000407418		156	Acg/cg	0	1	1	UPI00001271FD	0		ENST00000407418		ENSG00000183741	1556		9			HGNC	p.T156fs		CBX6		deletion							ENST00000407418	protein_coding			hmmpanther:PTHR22812:SF8,hmmpanther:PTHR22812		T/X		-		590/6122							YES	CBX6,frameshift_variant,p.Thr156ArgfsTer9,ENST00000407418,;CBX6,frameshift_variant,p.Thr138ArgfsTer9,ENST00000216083,NM_014292.3;CBX6,downstream_gene_variant,,ENST00000469420,;							HIGH	466/1239		CBX6_HUMAN			Transcript			.	ENSP00000384490		CCDS13980.1			1	
PIP5K1B	0	LGGM	GRCh37	9	71509540	71509540	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	40	3	.	.	ENST00000265382.3:c.757C>A	p.Gln253Lys	p.Q253K	ENST00000265382	NM_003558.3	253	Cag/Aag	0	1	1	UPI000002E327	0	getma.org/pdb.php?prot=PI51B_HUMAN&from=107&to=395&var=Q253K	ENST00000265382		ENSG00000107242	8995		43	1.485		HGNC	p.Q293K		PIP5K1B		SNV							ENST00000478500	protein_coding	getma.org/?cm=var&var=hg19,9,71509540,C,A&fts=all		PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF34,Pfam_domain:PF01504,Gene3D:1bo1A02,SMART_domains:SM00330,Superfamily_domains:SSF56104		Q/K		A	low	1062/2654		getma.org/?cm=msa&ty=f&p=PI51B_HUMAN&rb=107&re=395&var=Q253K	tolerated(0.07)	Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN			YES	PIP5K1B,missense_variant,p.Gln253Lys,ENST00000265382,NM_003558.3;PIP5K1B,missense_variant,p.Gln253Lys,ENST00000541509,NM_001278253.1;PIP5K1B,downstream_gene_variant,,ENST00000437200,;PIP5K1B,missense_variant,p.Gln293Lys,ENST00000478500,;							MODERATE	757/1623	Q253K	PI51B_HUMAN			Transcript		benign(0.151)	.	ENSP00000265382		CCDS6624.1			1	
MYO9B	0	LGGM	GRCh37	19	17283747	17283747	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	8	3	.	.	ENST00000595618.1:c.2115G>T	p.Arg705=	p.R705=	ENST00000595618	NM_001130065.1	705	cgG/cgT	0	1		UPI0002A47676	0		ENST00000594824		ENSG00000099331	7609		11			HGNC	p.R705R		MYO9B		SNV			1				ENST00000595618	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,Low_complexity_(Seg):seg,SMART_domains:SM00242		R		T		2262/7595				M0R0P8_HUMAN				MYO9B,synonymous_variant,p.=,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,synonymous_variant,p.=,ENST00000594824,;MYO9B,synonymous_variant,p.=,ENST00000397274,;MYO9B,synonymous_variant,p.=,ENST00000595641,;MYO9B,synonymous_variant,p.=,ENST00000602177,;MYO9B,synonymous_variant,p.=,ENST00000594971,;CTD-3032J10.2,upstream_gene_variant,,ENST00000599360,;CTD-3032J10.2,upstream_gene_variant,,ENST00000597216,;CTD-3032J10.4,downstream_gene_variant,,ENST00000594678,;MYO9B,non_coding_transcript_exon_variant,,ENST00000598101,;							LOW	2115/6474					Transcript			.	ENSP00000471367					1	
TFPT	0	LGGM	GRCh37	19	54611438	54611438	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	5	3	.	.	ENST00000391759.1:c.537C>T	p.Gly179=	p.G179=	ENST00000391759	NM_013342.3	179	ggC/ggT	0	1	1	UPI000006CFD4	0		ENST00000391759		ENSG00000105619	13630		8			HGNC	p.A167V		TFPT		SNV							ENST00000391757	protein_coding			Low_complexity_(Seg):seg		G		A		943/1205				G5E9B5_HUMAN			YES	TFPT,missense_variant,p.Ala167Val,ENST00000391757,;TFPT,synonymous_variant,p.=,ENST00000391759,NM_013342.3;TFPT,synonymous_variant,p.=,ENST00000391758,;NDUFA3,intron_variant,,ENST00000391764,;NDUFA3,downstream_gene_variant,,ENST00000485876,;NDUFA3,downstream_gene_variant,,ENST00000471292,;NDUFA3,downstream_gene_variant,,ENST00000391762,;NDUFA3,downstream_gene_variant,,ENST00000303553,;NDUFA3,downstream_gene_variant,,ENST00000420296,;NDUFA3,downstream_gene_variant,,ENST00000391763,;NDUFA3,upstream_gene_variant,,ENST00000480713,;NDUFA3,upstream_gene_variant,,ENST00000482960,;TFPT,3_prime_UTR_variant,,ENST00000420715,;NDUFA3,intron_variant,,ENST00000422029,;NDUFA3,intron_variant,,ENST00000419113,;NDUFA3,downstream_gene_variant,,ENST00000417903,;NDUFA3,downstream_gene_variant,,ENST00000484103,;NDUFA3,downstream_gene_variant,,ENST00000451517,;							LOW	537/762		TFPT_HUMAN			Transcript			.	ENSP00000375639		CCDS12878.1			1	
MX2	0	LGGM	GRCh37	21	42751947	42751947	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	3	.	.	ENST00000330714.3:c.446T>A	p.Ile149Asn	p.I149N	ENST00000330714	NM_002463.1	149	aTc/aAc	0	1	1	UPI0000001C2D	0	getma.org/pdb.php?prot=MX2_HUMAN&from=121&to=296&var=I149N	ENST00000330714		ENSG00000183486	7533		12	4.38		HGNC	p.I149N		MX2		SNV							ENST00000330714	protein_coding	getma.org/?cm=var&var=hg19,21,42751947,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00350,Prints_domain:PR00195,PROSITE_patterns:PS00410,PROSITE_profiles:PS51718,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF46,SMART_domains:SM00053,Superfamily_domains:SSF52540		I/N		A	high	630/3042		getma.org/?cm=msa&ty=f&p=MX2_HUMAN&rb=121&re=296&var=I149N	deleterious(0.02)	Q75MY8_HUMAN,Q75MY7_HUMAN,C9JZQ9_HUMAN,C9JS04_HUMAN,C9JEL4_HUMAN			YES	MX2,missense_variant,p.Ile149Asn,ENST00000330714,NM_002463.1;MX2,intron_variant,,ENST00000543692,;MX2,downstream_gene_variant,,ENST00000416447,;MX2,downstream_gene_variant,,ENST00000435611,;MX2,downstream_gene_variant,,ENST00000418103,;MX2,downstream_gene_variant,,ENST00000436410,;							MODERATE	446/2148	I149N	MX2_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000333657		CCDS13672.1			1	
KIFC2	0	LGGM	GRCh37	8	145695016	145695016	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	8	3	.	.	ENST00000301332.2:c.1366G>T	p.Ala456Ser	p.A456S	ENST00000301332	NM_145754.2	456	Gcc/Tcc	0	1	1	UPI000006D3B2	0	getma.org/pdb.php?prot=KIFC2_HUMAN&from=422&to=715&var=A456S	ENST00000301332		ENSG00000167702	29530		11	0.825		HGNC	p.A456S		KIFC2		SNV							ENST00000301332	protein_coding	getma.org/?cm=var&var=hg19,8,145695016,G,T&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF337,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540		A/S		T	low	1743/3646		getma.org/?cm=msa&ty=f&p=KIFC2_HUMAN&rb=422&re=715&var=A456S	tolerated(0.06)				YES	KIFC2,missense_variant,p.Ala456Ser,ENST00000301332,NM_145754.2;KIFC2,missense_variant,p.Ala204Ser,ENST00000301331,;FOXH1,downstream_gene_variant,,ENST00000377317,NM_003923.2;CYHR1,upstream_gene_variant,,ENST00000438911,NM_138496.1;CYHR1,upstream_gene_variant,,ENST00000403000,NM_032687.3;CYHR1,upstream_gene_variant,,ENST00000306145,;CYHR1,upstream_gene_variant,,ENST00000424149,NM_001129888.1;CYHR1,upstream_gene_variant,,ENST00000526887,;CYHR1,upstream_gene_variant,,ENST00000533764,;CYHR1,upstream_gene_variant,,ENST00000530637,;CTD-2517M22.16,downstream_gene_variant,,ENST00000525461,;KIFC2,upstream_gene_variant,,ENST00000531423,;KIFC2,non_coding_transcript_exon_variant,,ENST00000531425,;KIFC2,downstream_gene_variant,,ENST00000533114,;KIFC2,downstream_gene_variant,,ENST00000529644,;CYHR1,upstream_gene_variant,,ENST00000524623,;KIFC2,downstream_gene_variant,,ENST00000529864,;							MODERATE	1366/2517	A456S	KIFC2_HUMAN			Transcript		benign(0.383)	.	ENSP00000301332		CCDS6427.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H072447	H072447N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	4	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	13			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
WDR63	0	LGGM	GRCh37	1	85551517	85551517	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	4	.	.	ENST00000294664.6:c.544A>T	p.Thr182Ser	p.T182S	ENST00000294664	NM_145172.3	182	Aca/Tca	0	1	1	UPI00000744F1	0	NA	ENST00000294664		ENSG00000162643	30711		13	1.735		HGNC	p.T182S		WDR63		SNV							ENST00000294664	protein_coding	getma.org/?cm=var&var=hg19,1,85551517,A,T&fts=all		hmmpanther:PTHR12442:SF5,hmmpanther:PTHR12442		T/S		T	low	724/2995		getma.org/?cm=msa&ty=f&p=WDR63_HUMAN&rb=1&re=200&var=T182S	tolerated(0.24)				YES	WDR63,missense_variant,p.Thr182Ser,ENST00000294664,NM_145172.3;WDR63,missense_variant,p.Thr182Ser,ENST00000370596,;WDR63,missense_variant,p.Thr182Ser,ENST00000326813,NM_001288563.1;WDR63,downstream_gene_variant,,ENST00000528899,;WDR63,missense_variant,p.Thr182Ser,ENST00000464801,;							MODERATE	544/2676	T182S	WDR63_HUMAN			Transcript		benign(0.01)	.	ENSP00000294664		CCDS702.1			1	
NUP62	0	LGGM	GRCh37	19	50413019	50413019	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	16	4	.	.	ENST00000596217.1:c.46T>G	p.Phe16Val	p.F16V	ENST00000596217		16	Ttc/Gtc	0	1		UPI000013EAFD	0	NA	ENST00000352066		ENSG00000213024	8066	0.000175	20	2.8		HGNC	p.F16V	rs778385514	NUP62	0.000183	SNV			1	0.000331			ENST00000594673	protein_coding	getma.org/?cm=var&var=hg19,19,50413019,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12084:SF2,hmmpanther:PTHR12084		F/V		C	medium	651/2870	0.00092	getma.org/?cm=msa&ty=f&p=NUP62_HUMAN&rb=1&re=200&var=F16V	deleterious(0)	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN				NUP62,missense_variant,p.Phe16Val,ENST00000596217,;NUP62,missense_variant,p.Phe16Val,ENST00000422090,NM_001193357.1;NUP62,missense_variant,p.Phe16Val,ENST00000413454,NM_153718.3,NM_012346.4;NUP62,missense_variant,p.Phe16Val,ENST00000352066,NM_016553.4;NUP62,missense_variant,p.Phe16Val,ENST00000597029,;NUP62,missense_variant,p.Phe16Val,ENST00000597723,;NUP62,missense_variant,p.Phe16Val,ENST00000593652,;NUP62,missense_variant,p.Phe16Val,ENST00000596437,;NUP62,missense_variant,p.Phe16Val,ENST00000600935,;NUP62,missense_variant,p.Phe16Val,ENST00000599567,;NUP62,missense_variant,p.Phe16Val,ENST00000600645,;NUP62,missense_variant,p.Phe16Val,ENST00000594673,;NUP62,missense_variant,p.Phe16Val,ENST00000599788,;NUP62,missense_variant,p.Phe16Val,ENST00000595761,;NUP62,missense_variant,p.Phe16Val,ENST00000596680,;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,non_coding_transcript_exon_variant,,ENST00000600583,;NUP62,intron_variant,,ENST00000595463,;NUP62,downstream_gene_variant,,ENST00000595373,;NUP62,downstream_gene_variant,,ENST00000599830,;NUP62,downstream_gene_variant,,ENST00000598301,;NUP62,downstream_gene_variant,,ENST00000599560,;NUP62,downstream_gene_variant,,ENST00000601665,;NUP62,downstream_gene_variant,,ENST00000597814,;NUP62,downstream_gene_variant,,ENST00000599186,;CTC-326K19.6,3_prime_UTR_variant,,ENST00000451973,;IL4I1,intron_variant,,ENST00000601717,;	0.000354						MODERATE	46/1569	F16V	NUP62_HUMAN	0.0301		Transcript		unknown(0)	common_variant	ENSP00000305503	0.00242	CCDS12788.1	0.00587		1	
SLC12A9	0	LGGM	GRCh37	7	100457783	100457783	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	20	4	.	.	ENST00000354161.3:c.1147G>C	p.Ala383Pro	p.A383P	ENST00000354161	NM_020246.3	383	Gca/Cca	0	1	1	UPI000006CD28	0	NA	ENST00000354161		ENSG00000146828	17435		24	2.11		HGNC	p.A383P		SLC12A9		SNV							ENST00000428758	protein_coding	getma.org/?cm=var&var=hg19,7,100457783,G,C&fts=all		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52		A/P		C	medium	1272/3273		getma.org/?cm=msa&ty=f&p=S12A9_HUMAN&rb=42&re=536&var=A383P	tolerated(0.18)	D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN			YES	SLC12A9,missense_variant,p.Ala383Pro,ENST00000354161,NM_020246.3;SLC12A9,missense_variant,p.Ala383Pro,ENST00000540482,NM_001267812.1;SLC12A9,missense_variant,p.Ala383Pro,ENST00000428758,;SLC12A9,missense_variant,p.Ala294Pro,ENST00000415287,NM_001267814.1;SLC12A9,missense_variant,p.Ala294Pro,ENST00000275729,;SLC12A9,missense_variant,p.Ala119Pro,ENST00000418037,;SLC12A9,missense_variant,p.Ala191Pro,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,downstream_gene_variant,,ENST00000461016,;SLC12A9,3_prime_UTR_variant,,ENST00000448342,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000497958,;SLC12A9,downstream_gene_variant,,ENST00000462106,;							MODERATE	1147/2745	A383P	S12A9_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000275730		CCDS5707.1			1	
DERL1	0	LGGM	GRCh37	8	124031436	124031436	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	11	4	.	.	ENST00000259512.4:c.616T>C	p.Leu206=	p.L206=	ENST00000259512	NM_024295.5	206	Ttg/Ctg	0	1	1	UPI0000048EAA	0		ENST00000259512		ENSG00000136986	28454		15			HGNC	p.L106L		DERL1		SNV							ENST00000523036	protein_coding			hmmpanther:PTHR11009		L		G		917/3340				E5RGY0_HUMAN			YES	DERL1,splice_region_variant,p.=,ENST00000259512,NM_024295.5,NM_001134671.2;DERL1,splice_region_variant,p.=,ENST00000405944,;DERL1,splice_region_variant,p.=,ENST00000419562,;DERL1,splice_region_variant,p.=,ENST00000519018,;DERL1,splice_region_variant,p.=,ENST00000523036,;RP11-557C18.3,intron_variant,,ENST00000521258,;DERL1,non_coding_transcript_exon_variant,,ENST00000524119,;							LOW	616/756		DERL1_HUMAN			Transcript			.	ENSP00000259512		CCDS6337.1			1	
CYB5R4	0	LGGM	GRCh37	6	84573961	84573961	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	17	4	.	.	ENST00000369681.5:c.143C>T	p.Thr48Met	p.T48M	ENST00000369681	NM_016230.3	48	aCg/aTg	0	1	1	UPI000056D3CE	0	NA	ENST00000369681		ENSG00000065615	20147		21	1.65		HGNC	p.T14M	rs140006808	CYB5R4	0.000424	SNV	T:0						ENST00000369679	protein_coding	getma.org/?cm=var&var=hg19,6,84573961,C,T&fts=all		hmmpanther:PTHR19370:SF71,hmmpanther:PTHR19370		T/M	T:0.0001	T	low	283/9252	1.50E-05	getma.org/?cm=msa&ty=f&p=NB5R4_HUMAN&rb=1&re=55&var=T48M	deleterious(0)	B2R7W7_HUMAN			YES	CYB5R4,missense_variant,p.Thr48Met,ENST00000369681,NM_016230.3;CYB5R4,missense_variant,p.Thr14Met,ENST00000369679,;							MODERATE	143/1566	T48M	NB5R4_HUMAN			Transcript		probably_damaging(0.987)	common_variant	ENSP00000358695	6.59E-05	CCDS5000.2			1	
MCM6	0	LGGM	GRCh37	2	136609029	136609029	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	4	.	.	ENST00000264156.2:c.1860G>A	p.Gln620=	p.Q620=	ENST00000264156	NM_005915.5	620	caG/caA	0	1	1	UPI0000001611	0		ENST00000264156		ENSG00000076003	6949		13			HGNC	p.Q620Q		MCM6		SNV			1				ENST00000264156	protein_coding			Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF73,SMART_domains:SM00350,Superfamily_domains:SSF52540		Q		T		1921/3736				Q53T61_HUMAN,Q4ZG57_HUMAN			YES	MCM6,synonymous_variant,p.=,ENST00000264156,NM_005915.5;MCM6,non_coding_transcript_exon_variant,,ENST00000492091,;MCM6,non_coding_transcript_exon_variant,,ENST00000483902,;							LOW	1860/2466		MCM6_HUMAN			Transcript			.	ENSP00000264156		CCDS2179.1			1	
INTS9	0	LGGM	GRCh37	8	28645356	28645356	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	1	4	.	.	ENST00000521022.1:c.1088C>T	p.Pro363Leu	p.P363L	ENST00000521022	NM_018250.3	363	cCt/cTt	0	1	1	UPI0000071C2E	0	NA	ENST00000521022		ENSG00000104299	25592		5	1.68		HGNC	p.P363L	rs774139148	INTS9		SNV							ENST00000523303	protein_coding	getma.org/?cm=var&var=hg19,8,28645356,G,A&fts=all		Pfam_domain:PF10996,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF2,SMART_domains:SM01027,Superfamily_domains:SSF56281		P/L		A	low	1170/2544	3.00E-05	getma.org/?cm=msa&ty=f&p=INT9_HUMAN&rb=305&re=429&var=P363L	tolerated(0.12)	H7BYQ6_HUMAN,E5RJ88_HUMAN			YES	INTS9,missense_variant,p.Pro342Leu,ENST00000416984,NM_001145159.2;INTS9,missense_variant,p.Pro363Leu,ENST00000521022,NM_018250.3;INTS9,missense_variant,p.Pro339Leu,ENST00000521777,NM_001172562.1;INTS9,missense_variant,p.Pro257Leu,ENST00000397363,;INTS9,upstream_gene_variant,,ENST00000521070,;INTS9,missense_variant,p.Pro363Leu,ENST00000523303,;INTS9,3_prime_UTR_variant,,ENST00000522363,;INTS9,non_coding_transcript_exon_variant,,ENST00000522074,;							MODERATE	1088/1977	P363L	INT9_HUMAN			Transcript		benign(0.129)	.	ENSP00000429065	1.65E-05	CCDS34873.1			1	
FGGY	0	LGGM	GRCh37	1	60228193	60228193	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	12	4	.	.	ENST00000371218.4:c.1665C>G	p.Tyr555Ter	p.Y555*	ENST00000371218	NM_001113411.1	555	taC/taG	0	1		UPI000004E9CB	0	NA	ENST00000303721		ENSG00000172456	25610		16	0		HGNC	p.Y232X		FGGY		SNV			1				ENST00000371210	protein_coding	getma.org/?cm=var&var=hg19,1,60228193,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF10,Gene3D:3.30.420.40,TIGRFAM_domain:TIGR01315,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067		Y/*		G	NA	1767/1976		NA		Q9NV20_HUMAN,J3QKV9_HUMAN,C9J015_HUMAN				FGGY,stop_gained,p.Tyr555Ter,ENST00000371218,NM_001113411.1;FGGY,stop_gained,p.Tyr531Ter,ENST00000303721,NM_018291.3;FGGY,stop_gained,p.Tyr443Ter,ENST00000371212,NM_001244714.1;FGGY,stop_gained,p.Tyr232Ter,ENST00000371210,NM_001278224.1;RP4-782L23.2,intron_variant,,ENST00000443012,;FGGY,non_coding_transcript_exon_variant,,ENST00000480847,;FGGY,non_coding_transcript_exon_variant,,ENST00000493891,;FGGY,non_coding_transcript_exon_variant,,ENST00000471169,;FGGY,non_coding_transcript_exon_variant,,ENST00000472783,;FGGY,intron_variant,,ENST00000476939,;							HIGH	1593/1656	Y531*	FGGY_HUMAN			Transcript			.	ENSP00000305922		CCDS611.2			1	
KLHL9	0	LGGM	GRCh37	9	21333301	21333301	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	84	5	.	.	ENST00000359039.4:c.1558C>A	p.Pro520Thr	p.P520T	ENST00000359039		520	Cca/Aca	0	1	1	UPI0000049FCF	0	NA	ENST00000359039		ENSG00000198642	18732		89	2.025		HGNC	p.P452T		KLHL9		SNV			1				ENST00000537938	protein_coding	getma.org/?cm=var&var=hg19,9,21333301,G,T&fts=all		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68,SMART_domains:SM00612		P/T		T	medium	2079/5710		getma.org/?cm=msa&ty=f&p=KLHL9_HUMAN&rb=483&re=532&var=P520T	tolerated(0.07)	Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN			YES	KLHL9,missense_variant,p.Pro520Thr,ENST00000359039,;KLHL9,missense_variant,p.Pro452Thr,ENST00000537938,NM_018847.2;							MODERATE	1558/1854	P520T	KLHL9_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000351933		CCDS6503.1			1	
SACS	0	LGGM	GRCh37	13	23907579	23907579	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	16	5	.	.	ENST00000382298.3:c.10436A>T	p.Lys3479Ile	p.K3479I	ENST00000382298	NM_014363.5	3479	aAa/aTa	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		21	0.345		HGNC	p.K2729I		SACS		SNV			1				ENST00000402364	protein_coding	getma.org/?cm=var&var=hg19,13,23907579,T,A&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		K/I		A	neutral	10710/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=3282&re=3481&var=K3479I						SACS,missense_variant,p.Lys3479Ile,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Lys3479Ile,ENST00000382292,;SACS,missense_variant,p.Lys2729Ile,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							MODERATE	10436/13740	K3479I	SACS_HUMAN			Transcript		possibly_damaging(0.506)	.	ENSP00000371729		CCDS9300.2			1	
RNF150	0	LGGM	GRCh37	4	141832417	141832417	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	10	5	.	.	ENST00000515673.2:c.1079C>A	p.Thr360Lys	p.T360K	ENST00000515673		360	aCa/aAa	0	1	1	UPI00004C9B0C	0	NA	ENST00000515673		ENSG00000170153	23138		15	0.345		HGNC	p.T219K		RNF150		SNV							ENST00000420921	protein_coding	getma.org/?cm=var&var=hg19,4,141832417,G,T&fts=all		hmmpanther:PTHR22765:SF42,hmmpanther:PTHR22765		T/K		T	neutral	1113/9805		getma.org/?cm=msa&ty=f&p=RN150_HUMAN&rb=333&re=436&var=T360K	tolerated(0.3)	D6RIE5_HUMAN			YES	RNF150,missense_variant,p.Thr360Lys,ENST00000515673,;RNF150,missense_variant,p.Thr318Lys,ENST00000306799,NM_020724.1;RNF150,missense_variant,p.Thr219Lys,ENST00000420921,;RNF150,missense_variant,p.Thr219Lys,ENST00000379512,;RNF150,missense_variant,p.Thr360Lys,ENST00000507500,;RNF150,missense_variant,p.Thr191Lys,ENST00000506101,;							MODERATE	1079/1317	T360K	RN150_HUMAN			Transcript		benign(0.06)	.	ENSP00000425840		CCDS34065.1			1	
ALB	0	LGGM	GRCh37	4	74277736	74277736	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	23	5	.	.	ENST00000295897.4:c.737G>A	p.Arg246Lys	p.R246K	ENST00000295897	NM_000477.5	246	aGa/aAa	0	1	1	UPI000002C1AC	0	getma.org/pdb.php?prot=ALBU_HUMAN&from=220&to=394&var=R246K	ENST00000295897		ENSG00000163631	399		28	-0.69		HGNC	p.R246K	rs760943157	ALB		SNV			1				ENST00000295897	protein_coding	getma.org/?cm=var&var=hg19,4,74277736,G,A&fts=all		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		R/K		A	neutral	826/2263		getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=220&re=394&var=R246K	tolerated(1)				YES	ALB,missense_variant,p.Arg246Lys,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Arg246Lys,ENST00000509063,;ALB,missense_variant,p.Arg96Lys,ENST00000503124,;ALB,missense_variant,p.Arg131Lys,ENST00000401494,;ALB,missense_variant,p.Arg91Lys,ENST00000511370,;ALB,missense_variant,p.Arg54Lys,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,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000504043,;							MODERATE	737/1830	R246K	ALBU_HUMAN			Transcript		benign(0.003)	.	ENSP00000295897		CCDS3555.1			1	
C12orf55	0	LGGM	GRCh37	12	97098531	97098531	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	5	5	.	.	ENST00000524981.4:c.6485C>A	p.Ser2162Ter	p.S2162*	ENST00000524981		2162	tCa/tAa	0	1	1	UPI0001F77A4D	0		ENST00000524981		ENSG00000188596	26456		10			HGNC	p.S2162X		C12orf55		SNV							ENST00000524981	protein_coding					S/*		A		6508/9766				R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,stop_gained,p.Ser2162Ter,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							HIGH	6485/9291					Transcript			.	ENSP00000431759					1	
COL25A1	0	LGGM	GRCh37	4	109817829	109817829	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	36	5	.	.	ENST00000399132.1:c.900C>T	p.Gly300=	p.G300=	ENST00000399132	NM_198721.2	300	ggC/ggT	0	1	1	UPI0000225CD2	0		ENST00000399132		ENSG00000188517	18603		41			HGNC	p.G300G	rs770846828	COL25A1	6.06E-05	SNV			1				ENST00000399126	protein_coding			hmmpanther:PTHR24023:SF412,hmmpanther:PTHR24023		G		A		1431/2724	4.50E-05			D6R8Y2_HUMAN			YES	COL25A1,synonymous_variant,p.=,ENST00000399132,NM_198721.2;COL25A1,synonymous_variant,p.=,ENST00000399126,NM_032518.2;COL25A1,synonymous_variant,p.=,ENST00000399127,NM_001256074.1;COL25A1,synonymous_variant,p.=,ENST00000494183,;	0.000116						LOW	900/1965		COPA1_HUMAN			Transcript			.	ENSP00000382083	4.14E-05	CCDS43258.1			1	
SMAD2	0	LGGM	GRCh37	18	45395765	45395765	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	3	5	.	.	ENST00000262160.6:c.369G>C	p.Leu123Phe	p.L123F	ENST00000262160	NM_005901.5	123	ttG/ttC	0	1		UPI0000032EE7	0	getma.org/pdb.php?prot=SMAD2_HUMAN&from=41&to=171&var=L123F	ENST00000262160		ENSG00000175387	6768		8	1.11		HGNC	p.L93F		SMAD2		SNV							ENST00000591214	protein_coding	getma.org/?cm=var&var=hg19,18,45395765,C,G&fts=all		PROSITE_profiles:PS51075,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF25,Pfam_domain:PF03165,Gene3D:1ozjA00,SMART_domains:SM00523,Superfamily_domains:0040928		L/F		G	low	621/11932		getma.org/?cm=msa&ty=f&p=SMAD2_HUMAN&rb=41&re=171&var=L123F	deleterious(0.04)	Q53XR6_HUMAN,K7ESI8_HUMAN,K7ERC7_HUMAN,K7EL92_HUMAN,K7EJX0_HUMAN				SMAD2,missense_variant,p.Leu123Phe,ENST00000402690,NM_001003652.3;SMAD2,missense_variant,p.Leu123Phe,ENST00000262160,NM_005901.5;SMAD2,missense_variant,p.Leu93Phe,ENST00000356825,NM_001135937.2;SMAD2,missense_variant,p.Leu93Phe,ENST00000586040,;SMAD2,missense_variant,p.Leu93Phe,ENST00000591214,;SMAD2,missense_variant,p.Leu123Phe,ENST00000587269,;SMAD2,missense_variant,p.Leu123Phe,ENST00000586514,;SMAD2,missense_variant,p.Leu123Phe,ENST00000587421,;SMAD2,downstream_gene_variant,,ENST00000585978,;SMAD2,downstream_gene_variant,,ENST00000589877,;SMAD2,non_coding_transcript_exon_variant,,ENST00000587353,;SMAD2,downstream_gene_variant,,ENST00000586487,;							MODERATE	369/1404	L123F	SMAD2_HUMAN			Transcript		benign(0.333)	.	ENSP00000262160		CCDS11934.1			1	
ZG16B	0	LGGM	GRCh37	16	2882038	2882038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	15	5	.	.	ENST00000382280.3:c.505G>A	p.Gly169Ser	p.G169S	ENST00000382280	NM_145252.2	169	Ggc/Agc	0	1	1	UPI000059D2F8	0	getma.org/pdb.php?prot=ZG16B_HUMAN&from=1&to=200&var=G169S	ENST00000382280		ENSG00000162078	30456		20	1.935		HGNC	p.G169S		ZG16B		SNV							ENST00000382280	protein_coding	getma.org/?cm=var&var=hg19,16,2882038,G,A&fts=all		Gene3D:2.100.10.30,SMART_domains:SM00915,Superfamily_domains:SSF51101		G/S		A	medium	584/831		getma.org/?cm=msa&ty=f&p=ZG16B_HUMAN&rb=1&re=200&var=G169S	deleterious(0)	G8H6I3_HUMAN,C3PTT6_HUMAN			YES	ZG16B,missense_variant,p.Gly169Ser,ENST00000382280,NM_145252.2;ZG16B,missense_variant,p.Gly139Ser,ENST00000572863,;ZG16B,intron_variant,,ENST00000570670,;ZG16B,downstream_gene_variant,,ENST00000571723,;ZG16B,downstream_gene_variant,,ENST00000576423,;ZG16B,downstream_gene_variant,,ENST00000573019,;							MODERATE	505/627	G169S	ZG16B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000371715		CCDS10479.2			1	
POU4F2	0	LGGM	GRCh37	4	147561290	147561290	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	4	5	.	.	ENST00000281321.3:c.560C>T	p.Ala187Val	p.A187V	ENST00000281321	NM_004575.2	187	gCg/gTg	0	1	1	UPI000013DC6C	0	NA	ENST00000281321		ENSG00000151615	9219		9	1.04		HGNC	p.A187V		POU4F2		SNV							ENST00000281321	protein_coding	getma.org/?cm=var&var=hg19,4,147561290,C,T&fts=all		hmmpanther:PTHR11636:SF41,hmmpanther:PTHR11636		A/V		T	low	808/3144		getma.org/?cm=msa&ty=f&p=PO4F2_HUMAN&rb=79&re=249&var=A187V	deleterious_low_confidence(0.05)				YES	POU4F2,missense_variant,p.Ala187Val,ENST00000281321,NM_004575.2;AC093887.1,downstream_gene_variant,,ENST00000584185,;							MODERATE	560/1230	A187V	PO4F2_HUMAN			Transcript		benign(0.028)	.	ENSP00000281321		CCDS34074.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	13	5	.	.	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41A	ENST00000349496	pathogenic	ENSG00000168036	2514		18	2.445		HGNC	p.T41A	rs121913412,COSM5664	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266124,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/A		G	medium	401/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	121/2346	T41A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
FAT2	0	LGGM	GRCh37	5	150947229	150947229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	26	6	.	.	ENST00000261800.5:c.1264G>A	p.Asp422Asn	p.D422N	ENST00000261800	NM_001447.2	422	Gac/Aac	0	1	1	UPI0000055B22	0	NA	ENST00000261800		ENSG00000086570	3596		32	2.95		HGNC	p.D422N		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150947229,C,T&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/N		T	medium	1277/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=363&re=458&var=D422N					YES	FAT2,missense_variant,p.Asp422Asn,ENST00000261800,NM_001447.2;							MODERATE	1264/13050	D422N	FAT2_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000261800		CCDS4317.1			1	
PHIP	0	LGGM	GRCh37	6	79711672	79711672	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	10	6	.	.	ENST00000275034.4:c.1823G>C	p.Gly608Ala	p.G608A	ENST00000275034	NM_017934.5	608	gGc/gCc	0	1	1	UPI000013DA40	0	NA	ENST00000275034		ENSG00000146247	15673		16	2.78		HGNC	p.G608A		PHIP		SNV							ENST00000275034	protein_coding	getma.org/?cm=var&var=hg19,6,79711672,C,G&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF4		G/A		G	medium	1991/10460		getma.org/?cm=msa&ty=f&p=PHIP_HUMAN&rb=496&re=695&var=G608A	deleterious(0)				YES	PHIP,missense_variant,p.Gly608Ala,ENST00000275034,NM_017934.5;							MODERATE	1823/5466	G608A	PHIP_HUMAN			Transcript		benign(0.026)	.	ENSP00000275034		CCDS4987.1			1	
FBN3	0	LGGM	GRCh37	19	8191368	8191368	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	3	6	.	.	ENST00000600128.1:c.2538C>T	p.Cys846=	p.C846=	ENST00000600128		846	tgC/tgT	0	1		UPI000013D88F	0		ENST00000270509		ENSG00000142449	18794	0.000102	9			HGNC	p.C846C	rs754700869,COSM81175	FBN3	0.000197	SNV						0,1	ENST00000600128	protein_coding			PROSITE_profiles:PS51364,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581		C		A		2824/9232	5.16E-05							FBN3,synonymous_variant,p.=,ENST00000600128,;FBN3,synonymous_variant,p.=,ENST00000270509,NM_032447.3;FBN3,synonymous_variant,p.=,ENST00000601739,;					0,1		LOW	2538/8430		FBN3_HUMAN			Transcript			.	ENSP00000270509	5.77E-05	CCDS12196.1			1	
RAB3GAP2	0	LGGM	GRCh37	1	220340941	220340941	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	65	7	.	.	ENST00000358951.2:c.2883A>C	p.Glu961Asp	p.E961D	ENST00000358951	NM_012414.3	961	gaA/gaC	0	1	1	UPI0000072269	0	NA	ENST00000358951		ENSG00000118873	17168		72	-0.55		HGNC	p.E961D		RAB3GAP2		SNV			1				ENST00000358951	protein_coding	getma.org/?cm=var&var=hg19,1,220340941,T,G&fts=all		Pfam_domain:PF14656,hmmpanther:PTHR12472		E/D		G	neutral	3000/7257		getma.org/?cm=msa&ty=f&p=RBGPR_HUMAN&rb=1&re=1390&var=E961D	tolerated(0.45)				YES	RAB3GAP2,missense_variant,p.Glu961Asp,ENST00000358951,NM_012414.3;							MODERATE	2883/4182	E961D	RBGPR_HUMAN			Transcript		benign(0.038)	.	ENSP00000351832		CCDS31028.1			1	
HAVCR2	0	LGGM	GRCh37	5	156514130	156514130	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	32	7	.	.	ENST00000307851.4:c.889C>T	p.Arg297Cys	p.R297C	ENST00000307851	NM_032782.4	297	Cgc/Tgc	0	1	1	UPI000011AAFA	0	NA	ENST00000307851		ENSG00000135077	18437		39	0.69		HGNC	p.R297C	rs367655592	HAVCR2		SNV	A:0						ENST00000307851	protein_coding	getma.org/?cm=var&var=hg19,5,156514130,G,A&fts=all				R/C	A:0.0001	A	neutral	1620/2907	4.50E-05	getma.org/?cm=msa&ty=f&p=HAVR2_HUMAN&rb=252&re=301&var=R297C	deleterious_low_confidence(0.03)	E5RFR4_HUMAN			YES	HAVCR2,missense_variant,p.Arg297Cys,ENST00000307851,NM_032782.4;HAVCR2,missense_variant,p.Arg269Cys,ENST00000522593,;							MODERATE	889/906	R297C	HAVR2_HUMAN			Transcript		benign(0.14)	.	ENSP00000312002	2.47E-05	CCDS4333.1			1	
SLC25A51	0	LGGM	GRCh37	9	37887766	37887766	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	35	7	.	.	ENST00000377716.2:c.782G>A	p.Arg261Gln	p.R261Q	ENST00000377716		261	cGg/cAg	0	1		UPI000003615E	0	NA	ENST00000242275		ENSG00000122696	23323		42	2.335		HGNC	p.R261Q		SLC25A51		SNV							ENST00000380590	protein_coding	getma.org/?cm=var&var=hg19,9,37887766,C,T&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF253,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588		R/Q		T	medium	1012/1130		getma.org/?cm=msa&ty=f&p=MCAR1_HUMAN&rb=207&re=297&var=R261Q	deleterious(0.01)					SLC25A51,missense_variant,p.Arg261Gln,ENST00000377716,;SLC25A51,missense_variant,p.Arg261Gln,ENST00000380590,;SLC25A51,missense_variant,p.Arg261Gln,ENST00000242275,NM_033412.3;SLC25A51,intron_variant,,ENST00000496760,;RP11-613M10.9,intron_variant,,ENST00000540557,;RP11-3J10.4,downstream_gene_variant,,ENST00000436507,;							MODERATE	782/894	R261Q	S2551_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000242275		CCDS6614.1			1	
C16orf62	0	LGGM	GRCh37	16	19639112	19639112	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	14	7	.	.	ENST00000438132.3:c.1635A>G	p.Glu545=	p.E545=	ENST00000438132	NM_020314.5	545	gaA/gaG	0	1		UPI0000EE7D0B	0		ENST00000417362		ENSG00000103544	24641		21			HGNC	p.E478E		C16orf62		SNV							ENST00000542263	protein_coding			hmmpanther:PTHR13673,hmmpanther:PTHR13673:SF2		E		G		1179/2836				G5E9I3_HUMAN				C16orf62,synonymous_variant,p.=,ENST00000438132,NM_020314.5;C16orf62,synonymous_variant,p.=,ENST00000251143,;C16orf62,synonymous_variant,p.=,ENST00000543152,;C16orf62,synonymous_variant,p.=,ENST00000542263,;C16orf62,synonymous_variant,p.=,ENST00000417362,;C16orf62,synonymous_variant,p.=,ENST00000448695,;C16orf62,downstream_gene_variant,,ENST00000538552,;C16orf62,non_coding_transcript_exon_variant,,ENST00000539705,;							LOW	1167/2613					Transcript			.	ENSP00000395973					1	
UROC1	0	LGGM	GRCh37	3	126229533	126229533	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	7	.	.	ENST00000383579.3:c.231C>T	p.Tyr77=	p.Y77=	ENST00000383579	NM_001165974.1	77	taC/taT	0	1		UPI000012CEC2	0		ENST00000290868		ENSG00000159650	26444		16			HGNC	p.Y77Y		UROC1		SNV			1				ENST00000383579	protein_coding			HAMAP:MF_00577,hmmpanther:PTHR12216:SF3,hmmpanther:PTHR12216,PIRSF_domain:PIRSF001423		Y		A		285/3149								UROC1,synonymous_variant,p.=,ENST00000290868,NM_144639.2;UROC1,synonymous_variant,p.=,ENST00000383579,NM_001165974.1;							LOW	231/2031		HUTU_HUMAN			Transcript			.	ENSP00000290868		CCDS3038.1			1	
RAPGEF1	0	LGGM	GRCh37	9	134459793	134459793	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	12	7	.	.	ENST00000372190.3:c.2815C>T	p.Arg939Trp	p.R939W	ENST00000372190	NM_198679.1	939	Cgg/Tgg	0	1		UPI000021FB80	0	getma.org/pdb.php?prot=RPGF1_HUMAN&from=837&to=1014&var=R921W	ENST00000372189		ENSG00000107263	4568		19	2.965		HGNC	p.R867W		RAPGEF1		SNV							ENST00000429421	protein_coding	getma.org/?cm=var&var=hg19,9,134459793,G,A&fts=all		Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40,PROSITE_profiles:PS50009		R/W		A	medium	2885/6085		getma.org/?cm=msa&ty=f&p=RPGF1_HUMAN&rb=837&re=1014&var=R921W	deleterious(0)					RAPGEF1,missense_variant,p.Arg938Trp,ENST00000372195,;RAPGEF1,missense_variant,p.Arg939Trp,ENST00000372190,NM_198679.1;RAPGEF1,missense_variant,p.Arg921Trp,ENST00000372189,NM_005312.2;RAPGEF1,downstream_gene_variant,,ENST00000414781,;							MODERATE	2761/3234	R921W	RPGF1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000361263		CCDS48047.1			1	
KCNH1	0	LGGM	GRCh37	1	211192541	211192541	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	16	7	.	.	ENST00000271751.4:c.616C>G	p.Pro206Ala	p.P206A	ENST00000271751		206	Ccc/Gcc	0	1	1	UPI000003230D	0	NA	ENST00000271751		ENSG00000143473	6250		23	2.295		HGNC	p.P206A		KCNH1		SNV			1				ENST00000271751	protein_coding	getma.org/?cm=var&var=hg19,1,211192541,G,C&fts=all		Prints_domain:PR01464,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377		P/A		C	medium	644/3066		getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=136&re=251&var=P206A	tolerated(0.05)				YES	KCNH1,missense_variant,p.Pro206Ala,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Pro206Ala,ENST00000271751,;							MODERATE	616/2970	P206A	KCNH1_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000271751		CCDS1496.1			1	
CYLC1	0	LGGM	GRCh37	X	83129116	83129116	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	25	7	.	.	ENST00000329312.4:c.1400A>T	p.Asp467Val	p.D467V	ENST00000329312	NM_021118.2	467	gAt/gTt	0	1	1	UPI0000251E1D	0	NA	ENST00000329312		ENSG00000183035	2582		32	1.7		HGNC	p.D467V		CYLC1		SNV							ENST00000329312	protein_coding	getma.org/?cm=var&var=hg19,X,83129116,A,T&fts=all		hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1,Low_complexity_(Seg):seg		D/V		T	low	1437/2106		getma.org/?cm=msa&ty=f&p=CYLC1_HUMAN&rb=401&re=600&var=D467V	tolerated(0.22)				YES	CYLC1,missense_variant,p.Asp467Val,ENST00000329312,NM_021118.2;							MODERATE	1400/1956	D467V	CYLC1_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000331556		CCDS35341.1			1	
DCP2	0	LGGM	GRCh37	5	112336917	112336917	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	26	7	.	.	ENST00000389063.2:c.569C>T	p.Thr190Ile	p.T190I	ENST00000389063	NM_152624.5	190	aCt/aTt	0	1	1	UPI000020C41B	0	getma.org/pdb.php?prot=DCP2_HUMAN&from=98&to=219&var=T190I	ENST00000389063		ENSG00000172795	24452		33	2.48		HGNC	p.T190I		DCP2		SNV							ENST00000515408	protein_coding	getma.org/?cm=var&var=hg19,5,112336917,C,T&fts=all		Gene3D:3.90.79.10,Pfam_domain:PF00293,PROSITE_profiles:PS51462,hmmpanther:PTHR23114,Superfamily_domains:SSF55811		T/I		T	medium	767/8947		getma.org/?cm=msa&ty=f&p=DCP2_HUMAN&rb=98&re=219&var=T190I	deleterious(0.04)	B7Z3U5_HUMAN			YES	DCP2,missense_variant,p.Thr190Ile,ENST00000389063,NM_152624.5;DCP2,missense_variant,p.Thr190Ile,ENST00000515408,NM_001242377.1;DCP2,missense_variant,p.Thr172Ile,ENST00000513585,;DCP2,5_prime_UTR_variant,,ENST00000543319,;DCP2,synonymous_variant,p.=,ENST00000512751,;DCP2,non_coding_transcript_exon_variant,,ENST00000508359,;DCP2,downstream_gene_variant,,ENST00000502635,;							MODERATE	569/1263	T190I	DCP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000373715		CCDS34210.1			1	
LIAS	0	LGGM	GRCh37	4	39471757	39471757	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	15	8	.	.	ENST00000261434.3:c.856G>T	p.Asp286Tyr	p.D286Y	ENST00000261434	NM_006859.3	286	Gat/Tat	0	1	1	UPI000004EE9F	0	NA	ENST00000261434		ENSG00000121897	16429		23	3.26		HGNC	p.D286Y		LIAS		SNV			1				ENST00000340169	protein_coding	getma.org/?cm=var&var=hg19,4,39471757,G,T&fts=all		HAMAP:MF_00206,hmmpanther:PTHR10949:SF0,hmmpanther:PTHR10949,TIGRFAM_domain:TIGR00510,Pfam_domain:PF04055,Gene3D:3.20.20.70,SMART_domains:SM00729,PIRSF_domain:PIRSF005963,Superfamily_domains:SSF102114		D/Y		T	medium	974/1775		getma.org/?cm=msa&ty=f&p=LIAS_HUMAN&rb=131&re=296&var=D286Y	deleterious(0)				YES	LIAS,missense_variant,p.Asp286Tyr,ENST00000261434,NM_006859.3;LIAS,missense_variant,p.Asp286Tyr,ENST00000340169,NM_194451.2;LIAS,missense_variant,p.Asp243Tyr,ENST00000381846,NM_001278590.1;LIAS,missense_variant,p.Asp156Tyr,ENST00000513731,;LIAS,downstream_gene_variant,,ENST00000515061,;							MODERATE	856/1119	D286Y	LIAS_HUMAN			Transcript		possibly_damaging(0.516)	.	ENSP00000261434		CCDS3453.1			1	
RAB3GAP2	0	LGGM	GRCh37	1	220340970	220340970	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	63	8	.	.	ENST00000358951.2:c.2854A>C	p.Ser952Arg	p.S952R	ENST00000358951	NM_012414.3	952	Agc/Cgc	0	1	1	UPI0000072269	0	NA	ENST00000358951		ENSG00000118873	17168		71	0.895		HGNC	p.S952R		RAB3GAP2		SNV			1				ENST00000358951	protein_coding	getma.org/?cm=var&var=hg19,1,220340970,T,G&fts=all		Pfam_domain:PF14656,hmmpanther:PTHR12472		S/R		G	low	2971/7257		getma.org/?cm=msa&ty=f&p=RBGPR_HUMAN&rb=1&re=1390&var=S952R	tolerated(0.14)				YES	RAB3GAP2,missense_variant,p.Ser952Arg,ENST00000358951,NM_012414.3;							MODERATE	2854/4182	S952R	RBGPR_HUMAN			Transcript		benign(0.361)	.	ENSP00000351832		CCDS31028.1			1	
HJURP	0	LGGM	GRCh37	2	234749311	234749311	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	31	8	.	.	ENST00000411486.2:c.2115C>A	p.Asp705Glu	p.D705E	ENST00000411486	NM_018410.3	705	gaC/gaA	0	1	1	UPI000013CB29	0	NA	ENST00000411486		ENSG00000123485	25444		39	0		HGNC	p.D651E		HJURP		SNV							ENST00000432087	protein_coding	getma.org/?cm=var&var=hg19,2,234749311,G,T&fts=all		hmmpanther:PTHR15992		D/E		T	neutral	2181/3187		getma.org/?cm=msa&ty=f&p=HJURP_HUMAN&rb=615&re=748&var=D705E	tolerated(0.38)				YES	HJURP,missense_variant,p.Asp705Glu,ENST00000411486,NM_018410.3;HJURP,missense_variant,p.Asp651Glu,ENST00000432087,NM_001282962.1;HJURP,missense_variant,p.Asp620Glu,ENST00000441687,NM_001282963.1;HJURP,downstream_gene_variant,,ENST00000414924,;HJURP,downstream_gene_variant,,ENST00000454020,;HJURP,downstream_gene_variant,,ENST00000434039,;HJURP,missense_variant,p.Asp25Glu,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000453122,;HJURP,downstream_gene_variant,,ENST00000373395,;							MODERATE	2115/2247	D705E	HJURP_HUMAN			Transcript		benign(0.008)	.	ENSP00000414109		CCDS33406.1			1	
SCN2A	0	LGGM	GRCh37	2	166246037	166246037	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	10	8	.	.	ENST00000357398.3:c.5721G>A	p.Val1907=	p.V1907=	ENST00000357398		1907	gtG/gtA	0	1		UPI00001279C9	0		ENST00000283256		ENSG00000136531	10588		18			HGNC	p.V1907V		SCN2A		SNV			1				ENST00000283256	protein_coding			PROSITE_profiles:PS50096,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,SMART_domains:SM00015		V		A		5877/8403				F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,synonymous_variant,p.=,ENST00000375437,NM_001040142.1;SCN2A,synonymous_variant,p.=,ENST00000357398,;SCN2A,synonymous_variant,p.=,ENST00000283256,NM_021007.2;SCN2A,synonymous_variant,p.=,ENST00000375427,NM_001040143.1;							LOW	5721/6018		SCN2A_HUMAN			Transcript			.	ENSP00000283256		CCDS33314.1			1	
YTHDC2	0	LGGM	GRCh37	5	112901623	112901623	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	17	8	.	.	ENST00000161863.4:c.2749C>A	p.Arg917=	p.R917=	ENST00000161863	NM_022828.3	917	Cga/Aga	0	1	1	UPI0000367311	0		ENST00000161863		ENSG00000047188	24721		25			HGNC	p.R917R	rs764157343	YTHDC2		SNV							ENST00000161863	protein_coding			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF86		R		A		2962/6316	1.50E-05			D6RA70_HUMAN			YES	YTHDC2,synonymous_variant,p.=,ENST00000161863,NM_022828.3;YTHDC2,non_coding_transcript_exon_variant,,ENST00000506333,;YTHDC2,downstream_gene_variant,,ENST00000503857,;							LOW	2749/4293		YTDC2_HUMAN	0.000151		Transcript			.	ENSP00000161863	1.65E-05	CCDS4113.1			1	
ZNF711	0	LGGM	GRCh37	X	84523332	84523332	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	20	9	.	.	ENST00000373165.3:c.949G>A	p.Asp317Asn	p.D317N	ENST00000373165	NM_021998.4	317	Gat/Aat	0	1		UPI0000212114	0	NA	ENST00000276123		ENSG00000147180	13128		29	0.69		HGNC	p.D317N		ZNF711		SNV			1				ENST00000373165	protein_coding	getma.org/?cm=var&var=hg19,X,84523332,G,A&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1,Pfam_domain:PF04704		D/N		A	neutral	1457/2887		getma.org/?cm=msa&ty=f&p=ZN711_HUMAN&rb=64&re=368&var=D317N	tolerated(0.15)	B4DS73_HUMAN				ZNF711,missense_variant,p.Asp363Asn,ENST00000360700,;ZNF711,missense_variant,p.Asp317Asn,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.Asp317Asn,ENST00000276123,;ZNF711,missense_variant,p.Asp159Asn,ENST00000542798,;ZNF711,intron_variant,,ENST00000395402,;							MODERATE	949/2286	D317N	ZN711_HUMAN			Transcript		benign(0.102)	.	ENSP00000276123		CCDS35344.1			1	
GBP7	0	LGGM	GRCh37	1	89630484	89630484	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	25	9	.	.	ENST00000294671.2:c.248T>G	p.Val83Gly	p.V83G	ENST00000294671	NM_207398.2	83	gTg/gGg	0	1	1	UPI000013E1A3	0	getma.org/pdb.php?prot=GBP7_HUMAN&from=18&to=281&var=V83G	ENST00000294671		ENSG00000213512	29606		34	3.09		HGNC	p.V83G		GBP7		SNV							ENST00000294671	protein_coding	getma.org/?cm=var&var=hg19,1,89630484,A,C&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF02263,hmmpanther:PTHR10751:SF18,hmmpanther:PTHR10751,PROSITE_profiles:PS51715		V/G		C	medium	387/2454		getma.org/?cm=msa&ty=f&p=GBP7_HUMAN&rb=18&re=281&var=V83G	deleterious(0)				YES	GBP7,missense_variant,p.Val83Gly,ENST00000294671,NM_207398.2;							MODERATE	248/1917	V83G	GBP7_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000294671		CCDS720.1			1	
HDAC8	0	LGGM	GRCh37	X	71787801	71787801	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	22	9	.	.	ENST00000373573.3:c.375C>A	p.Cys125Ter	p.C125*	ENST00000373573	NM_018486.2	125	tgC/tgA	0	1	1	UPI00000411E6	0	NA	ENST00000373573		ENSG00000147099	13315		31	0		HGNC	p.C125X		HDAC8		SNV			1				ENST00000373560	protein_coding	getma.org/?cm=var&var=hg19,X,71787801,G,T&fts=all		hmmpanther:PTHR10625:SF106,hmmpanther:PTHR10625,Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271		C/*		T	NA	717/2014		NA		C9J8F0_HUMAN,B4DQE7_HUMAN			YES	HDAC8,stop_gained,p.Cys125Ter,ENST00000439122,NM_001166419.1;HDAC8,stop_gained,p.Cys125Ter,ENST00000373571,;HDAC8,stop_gained,p.Cys125Ter,ENST00000373573,NM_018486.2;HDAC8,stop_gained,p.Cys125Ter,ENST00000373561,;HDAC8,stop_gained,p.Cys125Ter,ENST00000415409,;HDAC8,stop_gained,p.Cys125Ter,ENST00000373554,NM_001166420.1;HDAC8,stop_gained,p.Cys125Ter,ENST00000373560,;HDAC8,stop_gained,p.Cys125Ter,ENST00000373556,NM_001166422.1;HDAC8,stop_gained,p.Cys86Ter,ENST00000421523,;HDAC8,intron_variant,,ENST00000373589,NM_001166418.1;HDAC8,intron_variant,,ENST00000429103,;HDAC8,intron_variant,,ENST00000373568,;HDAC8,intron_variant,,ENST00000373559,NM_001166448.1;HDAC8,intron_variant,,ENST00000373583,;HDAC8,intron_variant,,ENST00000478743,;HDAC8,stop_gained,p.Cys125Ter,ENST00000436675,;HDAC8,3_prime_UTR_variant,,ENST00000412342,;HDAC8,downstream_gene_variant,,ENST00000444609,;HDAC8,downstream_gene_variant,,ENST00000486704,;							HIGH	375/1134	C125*	HDAC8_HUMAN			Transcript			.	ENSP00000362674		CCDS14420.1			1	
ZNF574	0	LGGM	GRCh37	19	42584527	42584527	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	25	9	.	.	ENST00000600245.1:c.1769G>A	p.Arg590His	p.R590H	ENST00000600245		590	cGt/cAt	0	1		UPI00001AE536	0	NA	ENST00000359044		ENSG00000105732	26166		34	0.795		HGNC	p.R590H		ZNF574		SNV							ENST00000600245	protein_coding	getma.org/?cm=var&var=hg19,19,42584527,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF38,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13912,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		R/H		A	neutral	1910/2940		getma.org/?cm=msa&ty=f&p=ZN574_HUMAN&rb=563&re=592&var=R590H	deleterious(0.01)	Q9NT61_HUMAN,M0R133_HUMAN				ZNF574,missense_variant,p.Arg590His,ENST00000600245,;ZNF574,missense_variant,p.Arg680His,ENST00000222339,;ZNF574,missense_variant,p.Arg590His,ENST00000359044,NM_022752.5;ZNF574,downstream_gene_variant,,ENST00000597391,;CTB-59C6.3,upstream_gene_variant,,ENST00000594531,;							MODERATE	1769/2691	R590H	ZN574_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000351939		CCDS12596.1			1	
FGB	0	LGGM	GRCh37	4	155489548	155489548	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	22	9	.	.	ENST00000302068.4:c.734T>G	p.Ile245Ser	p.I245S	ENST00000302068	NM_005141.4	245	aTc/aGc	0	1	1	UPI000012A778	0	getma.org/pdb.php?prot=FIBB_HUMAN&from=237&to=487&var=I245S	ENST00000302068		ENSG00000171564	3662		31	-0.245		HGNC	p.I26S		FGB		SNV			1				ENST00000509493	protein_coding	getma.org/?cm=var&var=hg19,4,155489548,T,G&fts=all		Superfamily_domains:SSF56496,SMART_domains:SM00186,Gene3D:3.90.215.10,Pfam_domain:PF00147,hmmpanther:PTHR19143:SF23,hmmpanther:PTHR19143,PROSITE_profiles:PS51406		I/S		G	neutral	797/1975		getma.org/?cm=msa&ty=f&p=FIBB_HUMAN&rb=237&re=487&var=I245S	tolerated(0.22)	D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN			YES	FGB,missense_variant,p.Ile245Ser,ENST00000302068,NM_005141.4;FGB,missense_variant,p.Ile26Ser,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000498375,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000425838,;							MODERATE	734/1476	I245S	FIBB_HUMAN			Transcript		possibly_damaging(0.697)	.	ENSP00000306099		CCDS3786.1			1	
SOSTDC1	0	LGGM	GRCh37	7	16502373	16502373	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	25	9	.	.	ENST00000307068.4:c.421C>A	p.Gln141Lys	p.Q141K	ENST00000307068	NM_015464.2	141	Cag/Aag	0	1	1	UPI000004BA5E	0	getma.org/pdb.php?prot=SOSD1_HUMAN&from=6&to=206&var=Q141K	ENST00000307068		ENSG00000171243	21748		34	1.87		HGNC	p.Q165K		SOSTDC1		SNV							ENST00000396652	protein_coding	getma.org/?cm=var&var=hg19,7,16502373,G,T&fts=all		Pfam_domain:PF05463,PROSITE_profiles:PS01225,hmmpanther:PTHR14903,hmmpanther:PTHR14903:SF5		Q/K		T	low	602/1869		getma.org/?cm=msa&ty=f&p=SOSD1_HUMAN&rb=6&re=206&var=Q141K	deleterious(0.01)	A4D125_HUMAN			YES	SOSTDC1,missense_variant,p.Gln165Lys,ENST00000396652,;SOSTDC1,missense_variant,p.Gln141Lys,ENST00000307068,NM_015464.2;							MODERATE	421/621	Q141K	SOSD1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000304930		CCDS5360.1			1	
ABCA1	0	LGGM	GRCh37	9	107562815	107562815	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	31	9	.	.	ENST00000374736.3:c.4749A>T	p.Gly1583=	p.G1583=	ENST00000374736	NM_005502.3	1583	ggA/ggT	0	1	1	UPI000013E441	0		ENST00000374736		ENSG00000165029	29		40			HGNC	p.G1583G		ABCA1		SNV			1				ENST00000374736	protein_coding			hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		G		A		5144/10494				Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,synonymous_variant,p.=,ENST00000374736,NM_005502.3;							LOW	4749/6786		ABCA1_HUMAN			Transcript			.	ENSP00000363868		CCDS6762.1			1	
KCNJ5	0	LGGM	GRCh37	11	128786530	128786530	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	14	10	.	.	ENST00000529694.1:c.1164C>T	p.Gly388=	p.G388=	ENST00000529694	NM_000890.3	388	ggC/ggT	0	1		UPI000013D428	0		ENST00000338350		ENSG00000120457	6266		24			HGNC	p.G388G		KCNJ5		SNV			1				ENST00000338350	protein_coding			Prints_domain:PR01330,PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767:SF18,hmmpanther:PTHR11767		G		T		1516/1734				H9A8L0_HUMAN,H9A8K9_HUMAN				KCNJ5,synonymous_variant,p.=,ENST00000529694,NM_000890.3;KCNJ5,synonymous_variant,p.=,ENST00000338350,;KCNJ5,synonymous_variant,p.=,ENST00000533599,;							LOW	1164/1260		IRK5_HUMAN			Transcript			.	ENSP00000339960		CCDS8479.1			1	
PDE6A	0	LGGM	GRCh37	5	149323975	149323975	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	22	10	.	.	ENST00000255266.5:c.262C>A	p.Leu88Ile	p.L88I	ENST00000255266	NM_000440.2	88	Ctc/Atc	0	1	1	UPI000013CE9F	0	getma.org/pdb.php?prot=PDE6A_HUMAN&from=73&to=222&var=L88I	ENST00000255266		ENSG00000132915	8785		32	1.865		HGNC	p.L88I		PDE6A		SNV			1				ENST00000255266	protein_coding	getma.org/?cm=var&var=hg19,5,149323975,G,T&fts=all		hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Pfam_domain:PF01590,Gene3D:3.30.450.40,SMART_domains:SM00065,Superfamily_domains:SSF55781		L/I		T	low	382/5642		getma.org/?cm=msa&ty=f&p=PDE6A_HUMAN&rb=73&re=222&var=L88I	tolerated(0.14)	O75316_HUMAN			YES	PDE6A,missense_variant,p.Leu88Ile,ENST00000255266,NM_000440.2;Y_RNA,upstream_gene_variant,,ENST00000363464,;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;							MODERATE	262/2583	L88I	PDE6A_HUMAN			Transcript		benign(0.022)	.	ENSP00000255266		CCDS4299.1			1	
OR5M1	0	LGGM	GRCh37	11	56380392	56380392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	29	10	.	.	ENST00000526538.1:c.587A>T	p.Lys196Met	p.K196M	ENST00000526538	NM_001004740.1	196	aAg/aTg	0	1	1	UPI0000041C9B	0	NA	ENST00000526538		ENSG00000255012	8352		39	1.675		HGNC	p.K196M		OR5M1		SNV							ENST00000526538	protein_coding	getma.org/?cm=var&var=hg19,11,56380392,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Superfamily_domains:SSF81321		K/M		A	low	587/948		getma.org/?cm=msa&ty=f&p=OR5M1_HUMAN&rb=139&re=283&var=K196M	deleterious(0)				YES	OR5M1,missense_variant,p.Lys196Met,ENST00000526538,NM_001004740.1;							MODERATE	587/948	K196M	OR5M1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000435416		CCDS53631.1			1	
TMPRSS15	0	LGGM	GRCh37	21	19713796	19713796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	21	11	.	.	ENST00000284885.3:c.1498G>A	p.Gly500Arg	p.G500R	ENST00000284885	NM_002772.2	500	Ggg/Agg	0	1	1	UPI000013DDBE	0	NA	ENST00000284885		ENSG00000154646	9490		32	2.915		HGNC	p.G500R		TMPRSS15		SNV			1				ENST00000284885	protein_coding	getma.org/?cm=var&var=hg19,21,19713796,C,T&fts=all		PROSITE_profiles:PS50060,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899		G/R		T	medium	1532/3947		getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=347&re=504&var=G500R	deleterious(0)	Q9NR95_HUMAN			YES	TMPRSS15,missense_variant,p.Gly500Arg,ENST00000284885,NM_002772.2;							MODERATE	1498/3060	G500R	ENTK_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000284885		CCDS13571.1			1	
CXorf36	0	LGGM	GRCh37	X	45059856	45059856	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	26	11	.	.	ENST00000398000.2:c.216C>T	p.Phe72=	p.F72=	ENST00000398000	NM_176819.3	72	ttC/ttT	0	1	1	UPI000059DAFE	0		ENST00000398000		ENSG00000147113	25866		37			HGNC	p.F72F	COSM1121620,COSM1121619	CXorf36		SNV						1,1	ENST00000377934	protein_coding			hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF8		F		A		291/4655				B7Z295_HUMAN			YES	CXorf36,synonymous_variant,p.=,ENST00000398000,NM_176819.3;CXorf36,synonymous_variant,p.=,ENST00000377934,NM_024689.2;RP11-342D14.1,intron_variant,,ENST00000450527,;RP11-342D14.1,intron_variant,,ENST00000438181,;					1,1		LOW	216/1302		DIA1R_HUMAN			Transcript			.	ENSP00000381086		CCDS48096.1			1	
IGSF11	0	LGGM	GRCh37	3	118621367	118621367	+	stop_retained_variant	Silent	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	30	11	.	.	ENST00000393775.2:c.1296G>A	p.Ter432=	p.*432=	ENST00000393775	NM_001015887.1	432	taG/taA	0	1	1	UPI000013D9B3	0		ENST00000393775		ENSG00000144847	16669		41			HGNC	p.X404X		IGSF11		SNV							ENST00000491903	protein_coding					*		T		1602/3495				C9JAD3_HUMAN,C9IZX3_HUMAN			YES	IGSF11,stop_retained_variant,p.=,ENST00000354673,NM_152538.2;IGSF11,stop_retained_variant,p.=,ENST00000425327,;IGSF11,stop_retained_variant,p.=,ENST00000393775,NM_001015887.1;IGSF11,stop_retained_variant,p.=,ENST00000489689,;IGSF11,stop_retained_variant,p.=,ENST00000441144,;IGSF11,stop_retained_variant,p.=,ENST00000491903,;							LOW	1296/1296		IGS11_HUMAN			Transcript			.	ENSP00000377370		CCDS46891.1			1	
RAB3GAP2	0	LGGM	GRCh37	1	220340986	220340986	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	54	11	.	.	ENST00000358951.2:c.2838A>G	p.Ile946Met	p.I946M	ENST00000358951	NM_012414.3	946	atA/atG	0	1	1	UPI0000072269	0	NA	ENST00000358951		ENSG00000118873	17168		65	0.895		HGNC	p.I946M		RAB3GAP2		SNV			1				ENST00000358951	protein_coding	getma.org/?cm=var&var=hg19,1,220340986,T,C&fts=all		Pfam_domain:PF14656,hmmpanther:PTHR12472		I/M		C	low	2955/7257		getma.org/?cm=msa&ty=f&p=RBGPR_HUMAN&rb=1&re=1390&var=I946M	deleterious(0)				YES	RAB3GAP2,missense_variant,p.Ile946Met,ENST00000358951,NM_012414.3;							MODERATE	2838/4182	I946M	RBGPR_HUMAN			Transcript		benign(0.336)	.	ENSP00000351832		CCDS31028.1			1	
TBC1D1	0	LGGM	GRCh37	4	38138853	38138853	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	21	11	.	.	ENST00000261439.4:c.3404A>T	p.Glu1135Val	p.E1135V	ENST00000261439	NM_015173.3	1135	gAg/gTg	0	1	1	UPI0000367235	0	NA	ENST00000261439		ENSG00000065882	11578		32	2.25		HGNC	p.E1126V		TBC1D1		SNV							ENST00000508802	protein_coding	getma.org/?cm=var&var=hg19,4,38138853,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF204		E/V		T	medium	3759/5700		getma.org/?cm=msa&ty=f&p=TBCD1_HUMAN&rb=1083&re=1166&var=E1135V	deleterious(0)	H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN			YES	TBC1D1,missense_variant,p.Glu1135Val,ENST00000261439,NM_015173.3,NM_001253914.1,NM_001253915.1;TBC1D1,missense_variant,p.Glu1126Val,ENST00000508802,NM_001253912.1;TBC1D1,non_coding_transcript_exon_variant,,ENST00000407365,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000401554,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000406664,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000405444,;TBC1D1,3_prime_UTR_variant,,ENST00000510573,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000492180,;							MODERATE	3404/3507	E1135V	TBCD1_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000261439		CCDS33972.1			1	
KDM3B	0	LGGM	GRCh37	5	137727439	137727439	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	28	12	.	.	ENST00000314358.5:c.2118G>A	p.Leu706=	p.L706=	ENST00000314358	NM_016604.3	706	ctG/ctA	0	1	1	UPI000020C6A8	0		ENST00000314358		ENSG00000120733	1337		40			HGNC	p.L362L		KDM3B		SNV							ENST00000394866	protein_coding			hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8		L		A		2318/6813				F5H275_HUMAN			YES	KDM3B,synonymous_variant,p.=,ENST00000314358,NM_016604.3;KDM3B,synonymous_variant,p.=,ENST00000394866,;KDM3B,intron_variant,,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,intron_variant,,ENST00000507996,;							LOW	2118/5286		KDM3B_HUMAN			Transcript			.	ENSP00000326563		CCDS34242.1			1	
ATG13	0	LGGM	GRCh37	11	46681007	46681007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	19	12	.	.	ENST00000528494.1:c.761C>A	p.Thr254Asn	p.T254N	ENST00000528494	NM_001205119.1	254	aCc/aAc	0	1		UPI0000139B84	0	NA	ENST00000359513		ENSG00000175224	29091		31	1.67		HGNC	p.T254N		ATG13		SNV							ENST00000359513	protein_coding	getma.org/?cm=var&var=hg19,11,46681007,C,A&fts=all		hmmpanther:PTHR13430,hmmpanther:PTHR13430:SF2,Low_complexity_(Seg):seg		T/N		A	low	1069/4348		getma.org/?cm=msa&ty=f&p=ATG13_HUMAN&rb=231&re=515&var=T254N	deleterious(0)	J9JIF6_HUMAN,J3QRL1_HUMAN,J3QR83_HUMAN,J3QR16_HUMAN,J3KST9_HUMAN,J3KRU6_HUMAN,E9PPR2_HUMAN				ATG13,missense_variant,p.Thr254Asn,ENST00000434074,NM_001205120.1;ATG13,missense_variant,p.Thr254Asn,ENST00000312040,NM_001142673.2;ATG13,missense_variant,p.Thr254Asn,ENST00000451945,;ATG13,missense_variant,p.Thr254Asn,ENST00000359513,;ATG13,missense_variant,p.Thr254Asn,ENST00000526508,;ATG13,missense_variant,p.Thr254Asn,ENST00000524625,NM_014741.4;ATG13,missense_variant,p.Thr254Asn,ENST00000529655,NM_001205121.1;ATG13,missense_variant,p.Thr254Asn,ENST00000528494,NM_001205119.1;ATG13,missense_variant,p.Thr175Asn,ENST00000530500,NM_001205122.1;ATG13,missense_variant,p.Thr13Asn,ENST00000531933,;ATG13,downstream_gene_variant,,ENST00000395549,;ATG13,upstream_gene_variant,,ENST00000525009,;ATG13,downstream_gene_variant,,ENST00000525850,;ATG13,non_coding_transcript_exon_variant,,ENST00000534610,;ATG13,non_coding_transcript_exon_variant,,ENST00000527907,;ATG13,non_coding_transcript_exon_variant,,ENST00000528984,;ATG13,non_coding_transcript_exon_variant,,ENST00000533316,;ATG13,downstream_gene_variant,,ENST00000528145,;ATG13,downstream_gene_variant,,ENST00000528704,;							MODERATE	761/1554	T254N	ATG13_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000352500		CCDS44582.1			1	
METRNL	0	LGGM	GRCh37	17	81052069	81052069	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	40	13	.	.	ENST00000320095.7:c.685G>A	p.Val229Met	p.V229M	ENST00000320095	NM_001004431.1	229	Gtg/Atg	0	1	1	UPI000002F84C	0	NA	ENST00000320095		ENSG00000176845	27584		53	2.32		HGNC	p.V229M	rs763546825,COSM312838	METRNL		SNV						0,1	ENST00000320095	protein_coding	getma.org/?cm=var&var=hg19,17,81052069,G,A&fts=all				V/M		A	medium	810/1605	1.53E-05	getma.org/?cm=msa&ty=f&p=METRL_HUMAN&rb=188&re=309&var=V229M	deleterious(0.02)	Q147U6_HUMAN,B3KSJ5_HUMAN			YES	METRNL,missense_variant,p.Val147Met,ENST00000571814,;METRNL,missense_variant,p.Val229Met,ENST00000320095,NM_001004431.1;METRNL,missense_variant,p.Val147Met,ENST00000570778,;METRNL,missense_variant,p.Val26Met,ENST00000574053,;METRNL,non_coding_transcript_exon_variant,,ENST00000571940,;					0,1		MODERATE	685/936	V229M	METRL_HUMAN			Transcript		possibly_damaging(0.826)	.	ENSP00000315731	8.24E-06	CCDS32779.1			1	
TDO2	0	LGGM	GRCh37	4	156824921	156824921	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	21	13	.	.	ENST00000536354.2:c.11G>A	p.Cys4Tyr	p.C4Y	ENST00000536354	NM_005651.3	4	tGc/tAc	0	1	1	UPI00001367B7	0	NA	ENST00000536354		ENSG00000151790	11708		34	2.645		HGNC	p.C4Y		TDO2		SNV							ENST00000536354	protein_coding	getma.org/?cm=var&var=hg19,4,156824921,G,A&fts=all		hmmpanther:PTHR10138:SF1,hmmpanther:PTHR10138		C/Y		A	medium	75/1701		getma.org/?cm=msa&ty=f&p=T23O_HUMAN&rb=1&re=55&var=C4Y	deleterious(0)	D6RB68_HUMAN,D6RA50_HUMAN			YES	TDO2,missense_variant,p.Cys4Tyr,ENST00000536354,NM_005651.3;TDO2,intron_variant,,ENST00000506072,;TDO2,intron_variant,,ENST00000507590,;TDO2,intron_variant,,ENST00000503634,;TDO2,non_coding_transcript_exon_variant,,ENST00000509738,;TDO2,upstream_gene_variant,,ENST00000512584,;							MODERATE	11/1221	C4Y	T23O_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000444788		CCDS34086.1			1	
DIP2C	0	LGGM	GRCh37	10	329278	329291	+	frameshift_variant	Frame_Shift_Del	DEL	TCTGGGTGTCTCCA	TCTGGGTGTCTCCA	-	novel	by Submitter	H072447	H072447N.bam	TCTGGGTGTCTCCA	TCTGGGTGTCTCCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	22	13	.	.	ENST00000280886.6:c.4215_4228del	p.Gly1406HisfsTer15	p.G1406Hfs*15	ENST00000280886	NM_014974.2	1405	ttTGGAGACACCCAGAcc/ttcc	0	1	1	UPI00001833B9	0		ENST00000280886		ENSG00000151240	29150		35			HGNC	p.1405_1410del		DIP2C		deletion							ENST00000280886	protein_coding			hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:2.30.38.10,Pfam_domain:PF00501,Superfamily_domains:SSF56801		FGDTQT/FX		-		4303-4316/7894							YES	DIP2C,frameshift_variant,p.Gly1406HisfsTer15,ENST00000280886,NM_014974.2;RNA5SP298,upstream_gene_variant,,ENST00000364991,;							HIGH	4215-4228/4671		DIP2C_HUMAN			Transcript			.	ENSP00000280886		CCDS7054.1			1	
RTN4IP1	0	LGGM	GRCh37	6	107050763	107050763	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	25	13	.	.	ENST00000369063.3:c.655A>G	p.Thr219Ala	p.T219A	ENST00000369063	NM_032730.4	219	Act/Gct	0	1	1	UPI000002DFDB	0	getma.org/pdb.php?prot=RT4I1_HUMAN&from=169&to=246&var=T219A	ENST00000369063		ENSG00000130347	18647		38	1.965		HGNC	p.T219A	rs747013017	RTN4IP1		SNV							ENST00000369063	protein_coding	getma.org/?cm=var&var=hg19,6,107050763,T,C&fts=all		hmmpanther:PTHR11695:SF294,hmmpanther:PTHR11695,PROSITE_patterns:PS01162,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735		T/A		C	medium	1121/1682	3.01E-05	getma.org/?cm=msa&ty=f&p=RT4I1_HUMAN&rb=169&re=246&var=T219A	deleterious(0)	B2R9Y1_HUMAN			YES	RTN4IP1,missense_variant,p.Thr219Ala,ENST00000369063,NM_032730.4;RTN4IP1,intron_variant,,ENST00000539449,;RNU6-527P,upstream_gene_variant,,ENST00000363425,;							MODERATE	655/1191	T219A	RT4I1_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000358059	1.65E-05	CCDS5056.1			1	
CXorf21	0	LGGM	GRCh37	X	30577904	30577904	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	38	13	.	.	ENST00000378962.3:c.569T>C	p.Ile190Thr	p.I190T	ENST00000378962	NM_025159.2	190	aTa/aCa	0	1	1	UPI000006D5C7	0	NA	ENST00000378962		ENSG00000120280	25667		51	1.79		HGNC	p.I190T		CXorf21		SNV							ENST00000378962	protein_coding	getma.org/?cm=var&var=hg19,X,30577904,A,G&fts=all		Pfam_domain:PF15133,hmmpanther:PTHR14889:SF1,hmmpanther:PTHR14889		I/T		G	low	892/1855		getma.org/?cm=msa&ty=f&p=CX021_HUMAN&rb=1&re=300&var=I190T	tolerated(0.15)				YES	CXorf21,missense_variant,p.Ile190Thr,ENST00000378962,NM_025159.2;							MODERATE	569/906	I190T	CX021_HUMAN			Transcript		benign(0.399)	.	ENSP00000368245		CCDS14224.1			1	
PRAG1	0	LGGM	GRCh37	8	8197099	8197099	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	7	13	.	.	ENST00000520004.1:c.2209G>A	p.Gly737Ser	p.G737S	ENST00000520004		737	Ggc/Agc	0	1	1	UPI00001D82A6	0	NA	ENST00000520004		ENSG00000182319			20	0.255		Uniprot_gn	p.G737S	rs374528682	SGK223		SNV	T:0						ENST00000330777	protein_coding	getma.org/?cm=var&var=hg19,8,8197099,C,T&fts=all		hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972		G/S	T:0.0002	T	neutral	2474/4891	3.00E-05	getma.org/?cm=msa&ty=f&p=SG223_HUMAN&rb=598&re=797&var=G737S					YES	SGK223,missense_variant,p.Gly737Ser,ENST00000520004,;SGK223,missense_variant,p.Gly737Ser,ENST00000330777,NM_001080826.1;							MODERATE	2209/4209	G737S	SG223_HUMAN			Transcript		benign(0.249)	.	ENSP00000428054	1.65E-05	CCDS43706.1			1	
SEPT4	0	LGGM	GRCh37	17	56599303	56599303	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	15	13	.	.	ENST00000457347.2:c.842+25G>A		*281*	ENST00000457347	NM_001256782.1			0	1		UPI000013585C	0		ENST00000317268		ENSG00000108387	9165		28			HGNC	p.L255L		SEPT4		SNV							ENST00000426861	protein_coding							T		-/1784								SEPT4,synonymous_variant,p.=,ENST00000426861,NM_080415.2;SEPT4,synonymous_variant,p.=,ENST00000580809,;SEPT4,intron_variant,,ENST00000457347,NM_001256782.1;SEPT4,intron_variant,,ENST00000317268,NM_004574.3;SEPT4,intron_variant,,ENST00000583114,NM_001256822.1;SEPT4,intron_variant,,ENST00000412945,NM_001198713.1;SEPT4,intron_variant,,ENST00000393086,;SEPT4,intron_variant,,ENST00000317256,NM_080416.2;SEPT4,intron_variant,,ENST00000580844,;SEPT4,intron_variant,,ENST00000579371,;SEPT4,intron_variant,,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,non_coding_transcript_exon_variant,,ENST00000582270,;SEPT4,intron_variant,,ENST00000580796,;SEPT4,intron_variant,,ENST00000583273,;SEPT4,intron_variant,,ENST00000577440,;SEPT4,intron_variant,,ENST00000584488,;SEPT4,downstream_gene_variant,,ENST00000585170,;SEPT4,downstream_gene_variant,,ENST00000584789,;SEPT4,downstream_gene_variant,,ENST00000581615,;SEPT4,downstream_gene_variant,,ENST00000582248,;MTMR4,upstream_gene_variant,,ENST00000582663,;SEPT4,downstream_gene_variant,,ENST00000578747,;SEPT4,downstream_gene_variant,,ENST00000578131,;							MODIFIER	-/1437		SEPT4_HUMAN			Transcript			.	ENSP00000321674		CCDS11610.1			1	
PCDH19	0	LGGM	GRCh37	X	99662393	99662393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	48	13	.	.	ENST00000373034.4:c.1203C>A	p.Ser401Arg	p.S401R	ENST00000373034	NM_001184880.1	401	agC/agA	0	1	1	UPI00001D7BCD	0	getma.org/pdb.php?prot=PCD19_HUMAN&from=354&to=444&var=S401R	ENST00000373034		ENSG00000165194	14270		61	0.54		HGNC	p.S401R	COSM1219486	PCDH19		SNV			1			1	ENST00000420881	protein_coding	getma.org/?cm=var&var=hg19,X,99662393,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF40,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		S/R		T	neutral	2879/9756		getma.org/?cm=msa&ty=f&p=PCD19_HUMAN&rb=354&re=444&var=S401R	deleterious(0)				YES	PCDH19,missense_variant,p.Ser401Arg,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Ser401Arg,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,missense_variant,p.Ser401Arg,ENST00000420881,;					1		MODERATE	1203/3447	S401R	PCD19_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000362125		CCDS55462.1			1	
C11orf63	0	LGGM	GRCh37	11	122817310	122817310	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	22	13	.	.	ENST00000227349.2:c.1739A>T	p.Asp580Val	p.D580V	ENST00000227349	NM_024806.3	580	gAc/gTc	0	1	1	UPI00001FA5AB	0	NA	ENST00000227349		ENSG00000109944	26288		35	0.69		HGNC	p.D580V		C11orf63		SNV							ENST00000531316	protein_coding	getma.org/?cm=var&var=hg19,11,122817310,A,T&fts=all		hmmpanther:PTHR14726		D/V		T	neutral	2036/2910		getma.org/?cm=msa&ty=f&p=CK063_HUMAN&rb=211&re=776&var=D580V	deleterious(0)				YES	C11orf63,missense_variant,p.Asp580Val,ENST00000227349,NM_024806.3;C11orf63,missense_variant,p.Asp580Val,ENST00000531316,;C11orf63,non_coding_transcript_exon_variant,,ENST00000534362,;							MODERATE	1739/2337	D580V	CK063_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000227349		CCDS8438.1			1	
MPHOSPH8	0	LGGM	GRCh37	13	20233246	20233246	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	29	14	.	.	ENST00000361479.5:c.1688A>C	p.Asp563Ala	p.D563A	ENST00000361479	NM_017520.3	563	gAt/gCt	0	1	1	UPI0000051C18	0	NA	ENST00000361479		ENSG00000196199	29810		43	1.61		HGNC	p.D563A		MPHOSPH8		SNV							ENST00000414242	protein_coding	getma.org/?cm=var&var=hg19,13,20233246,A,C&fts=all		Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24188:SF6,hmmpanther:PTHR24188		D/A		C	low	1756/4235		getma.org/?cm=msa&ty=f&p=MPP8_HUMAN&rb=510&re=569&var=D563A	deleterious(0.04)				YES	MPHOSPH8,missense_variant,p.Asp563Ala,ENST00000361479,NM_017520.3;MPHOSPH8,missense_variant,p.Asp563Ala,ENST00000414242,;MPHOSPH8,non_coding_transcript_exon_variant,,ENST00000467481,;							MODERATE	1688/2583	D563A	MPP8_HUMAN			Transcript		benign(0.219)	.	ENSP00000355388		CCDS9287.1			1	
SHC1	0	LGGM	GRCh37	1	154936346	154936346	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	19	14	.	.	ENST00000448116.2:c.1688A>G	p.Asn563Ser	p.N563S	ENST00000448116	NM_001130040.1	563	aAt/aGt	0	1		UPI000013EE17	0	getma.org/pdb.php?prot=SHC1_HUMAN&from=488&to=579&var=N562S	ENST00000368445		ENSG00000160691	10840		33	2.26		HGNC	p.N563S		SHC1		SNV							ENST00000448116	protein_coding	getma.org/?cm=var&var=hg19,1,154936346,T,C&fts=all		Gene3D:3.30.505.10,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF2,SMART_domains:SM00252,Superfamily_domains:SSF55550		N/S		C	medium	1900/3472		getma.org/?cm=msa&ty=f&p=SHC1_HUMAN&rb=488&re=579&var=N562S	tolerated(0.06)	Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN				SHC1,missense_variant,p.Asn563Ser,ENST00000448116,NM_001130040.1;SHC1,missense_variant,p.Asn562Ser,ENST00000368445,NM_183001.4;SHC1,missense_variant,p.Asn453Ser,ENST00000368453,NM_003029.4;SHC1,missense_variant,p.Asn452Ser,ENST00000368450,NM_001130041.1,NM_001202859.1;SHC1,missense_variant,p.Asn333Ser,ENST00000368449,;SHC1,missense_variant,p.Asn363Ser,ENST00000606391,;SHC1,3_prime_UTR_variant,,ENST00000444664,;PYGO2,upstream_gene_variant,,ENST00000368457,NM_138300.3;PYGO2,upstream_gene_variant,,ENST00000368456,;SHC1,downstream_gene_variant,,ENST00000366442,;SHC1,downstream_gene_variant,,ENST00000414115,;SHC1,downstream_gene_variant,,ENST00000412170,;SHC1,downstream_gene_variant,,ENST00000444179,;RP11-307C12.12,downstream_gene_variant,,ENST00000605085,;SHC1,non_coding_transcript_exon_variant,,ENST00000490667,;PYGO2,upstream_gene_variant,,ENST00000483463,;							MODERATE	1685/1752	N562S	SHC1_HUMAN			Transcript		benign(0.016)	.	ENSP00000357430		CCDS30881.1			1	
ADCY10	0	LGGM	GRCh37	1	167806513	167806513	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	49	14	.	.	ENST00000367851.4:c.3051A>G	p.Thr1017=	p.T1017=	ENST00000367851	NM_018417.4	1017	acA/acG	0	1	1	UPI0000204D00	0		ENST00000367851		ENSG00000143199	21285		63			HGNC	p.T864T		ADCY10		SNV			1				ENST00000545172	protein_coding			PIRSF_domain:PIRSF011131,hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF23		T		C		3236/5051							YES	ADCY10,synonymous_variant,p.=,ENST00000367848,;ADCY10,synonymous_variant,p.=,ENST00000367851,NM_018417.4;ADCY10,synonymous_variant,p.=,ENST00000545172,NM_001167749.1;ADCY10,intron_variant,,ENST00000485964,;							LOW	3051/4833		ADCYA_HUMAN			Transcript			.	ENSP00000356825		CCDS1265.1			1	
SREBF2	0	LGGM	GRCh37	22	42267009	42267009	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	11	14	.	.	ENST00000361204.4:c.837C>T	p.Thr279=	p.T279=	ENST00000361204	NM_004599.3	279	acC/acT	0	1	1	UPI00001678D0	0		ENST00000361204		ENSG00000198911	11290		25			HGNC	p.T279T		SREBF2		SNV							ENST00000361204	protein_coding			hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565		T		T		1003/5240				Q8NCY3_HUMAN			YES	SREBF2,synonymous_variant,p.=,ENST00000361204,NM_004599.3;SREBF2,synonymous_variant,p.=,ENST00000424354,;SREBF2,upstream_gene_variant,,ENST00000462539,;SREBF2,upstream_gene_variant,,ENST00000464119,;							LOW	837/3426		SRBP2_HUMAN			Transcript			.	ENSP00000354476		CCDS14023.1			1	
POLR2B	0	LGGM	GRCh37	4	57876915	57876915	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	38	14	.	.	ENST00000381227.1:c.1550G>A	p.Gly517Asp	p.G517D	ENST00000381227		517	gGc/gAc	0	1		UPI00001345D1	0	getma.org/pdb.php?prot=RPB2_HUMAN&from=468&to=533&var=G517D	ENST00000314595		ENSG00000047315	9188		52	4.295		HGNC	p.G517D		POLR2B		SNV							ENST00000314595	protein_coding	getma.org/?cm=var&var=hg19,4,57876915,G,A&fts=all		Superfamily_domains:SSF64484,Pfam_domain:PF04565,Gene3D:2a6hC02,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF7		G/D		A	high	1593/3748		getma.org/?cm=msa&ty=f&p=RPB2_HUMAN&rb=468&re=533&var=G517D	deleterious(0)	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN				POLR2B,missense_variant,p.Gly517Asp,ENST00000381227,;POLR2B,missense_variant,p.Gly510Asp,ENST00000441246,;POLR2B,missense_variant,p.Gly517Asp,ENST00000314595,NM_000938.1;POLR2B,missense_variant,p.Gly442Asp,ENST00000431623,;POLR2B,splice_region_variant,,ENST00000510355,;POLR2B,splice_region_variant,,ENST00000478188,;							MODERATE	1550/3525	G517D	RPB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312735		CCDS3511.1			1	
DNAH1	0	LGGM	GRCh37	3	52433635	52433635	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	23	14	.	.	ENST00000420323.2:c.12516A>C	p.Glu4172Asp	p.E4172D	ENST00000420323	NM_015512.4	4172	gaA/gaC	0	1	1	UPI0001AE79D6	0	getma.org/pdb.php?prot=DYH1_HUMAN&from=3619&to=4327&var=E4237D	ENST00000420323		ENSG00000114841	2940		37	2.105		HGNC	p.E4172D		DNAH1		SNV			1				ENST00000420323	protein_coding	getma.org/?cm=var&var=hg19,3,52433635,A,C&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137		E/D		C	medium	12777/13104		getma.org/?cm=msa&ty=f&p=DYH1_HUMAN&rb=3619&re=4327&var=E4237D					YES	DNAH1,missense_variant,p.Glu4172Asp,ENST00000420323,NM_015512.4;BAP1,downstream_gene_variant,,ENST00000460680,NM_004656.3;BAP1,downstream_gene_variant,,ENST00000296288,;BAP1,downstream_gene_variant,,ENST00000469613,;BAP1,downstream_gene_variant,,ENST00000478368,;DNAH1,splice_acceptor_variant,,ENST00000488988,;DNAH1,3_prime_UTR_variant,,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;BAP1,downstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000490804,;DNAH1,downstream_gene_variant,,ENST00000487254,;							MODERATE	12516/12798	E4237D	DYH1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000401514		CCDS46842.1			1	
STRC	0	LGGM	GRCh37	15	43900307	43900307	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	32	14	.	.	ENST00000450892.2:c.3652C>T	p.Gln1218Ter	p.Q1218*	ENST00000450892	NM_153700.2	1218	Cag/Tag	0	1	1	UPI000013E60F	0	NA	ENST00000450892		ENSG00000242866	16035		46	0		HGNC	p.Q1218X		STRC		SNV			1				ENST00000450892	protein_coding	getma.org/?cm=var&var=hg19,15,43900307,G,A&fts=all		hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		Q/*		A	NA	3730/5680		NA		E7EPM8_HUMAN			YES	STRC,stop_gained,p.Gln1218Ter,ENST00000450892,NM_153700.2;STRC,stop_gained,p.Gln445Ter,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,3_prime_UTR_variant,,ENST00000455136,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,non_coding_transcript_exon_variant,,ENST00000448437,;STRC,downstream_gene_variant,,ENST00000483250,;STRC,downstream_gene_variant,,ENST00000470279,;STRC,upstream_gene_variant,,ENST00000493750,;							HIGH	3652/5328	Q1219*	STRC_HUMAN			Transcript			.	ENSP00000401513		CCDS10098.1			1	
FAM208B	0	LGGM	GRCh37	10	5789122	5789122	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	37	15	.	.	ENST00000328090.5:c.3738C>T	p.Asn1246=	p.N1246=	ENST00000328090	NM_017782.4	1246	aaC/aaT	0	1	1	UPI00004589BB	0		ENST00000328090		ENSG00000108021	23484		52			HGNC	p.N1246N		FAM208B		SNV							ENST00000328090	protein_coding			hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		N		T		4363/8626							YES	FAM208B,synonymous_variant,p.=,ENST00000328090,NM_017782.4;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;							LOW	3738/7293		F208B_HUMAN			Transcript			.	ENSP00000328426		CCDS41485.1			1	
THADA	0	LGGM	GRCh37	2	43776359	43776359	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	34	15	.	.	ENST00000405006.4:c.3096A>G	p.Thr1032=	p.T1032=	ENST00000405006	NM_001083953.1	1032	acA/acG	0	1	1	UPI00001C0473	0		ENST00000405006		ENSG00000115970	19217		49			HGNC	p.T1032T		THADA		SNV							ENST00000405975	protein_coding			hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387,Pfam_domain:PF10350		T		C		3448/6310				Q6YHU4_HUMAN			YES	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,synonymous_variant,p.=,ENST00000330266,;THADA,downstream_gene_variant,,ENST00000402360,NM_001271643.1;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,3_prime_UTR_variant,,ENST00000402796,;							LOW	3096/5862		THADA_HUMAN			Transcript			.	ENSP00000385995		CCDS46268.1			1	
SETD6	0	LGGM	GRCh37	16	58552095	58552095	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	10	16	.	.	ENST00000219315.4:c.933T>C	p.Ala311=	p.A311=	ENST00000219315		311	gcT/gcC	0	1	1	UPI000013C779	0		ENST00000219315		ENSG00000103037	26116		26			HGNC	p.L259P		SETD6		SNV							ENST00000422445	protein_coding			hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Gene3D:2h21A02,PIRSF_domain:PIRSF011771,Superfamily_domains:0040997		A		C		983/1553							YES	SETD6,synonymous_variant,p.=,ENST00000394266,;SETD6,synonymous_variant,p.=,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,missense_variant,p.Leu259Pro,ENST00000422445,;SETD6,3_prime_UTR_variant,,ENST00000427443,;SETD6,non_coding_transcript_exon_variant,,ENST00000463954,;SETD6,non_coding_transcript_exon_variant,,ENST00000491587,;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,;CNOT1,downstream_gene_variant,,ENST00000569924,;							LOW	933/1422		SETD6_HUMAN			Transcript			.	ENSP00000219315		CCDS54013.1			1	
SETD6	0	LGGM	GRCh37	16	58552100	58552100	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	16	.	.	ENST00000219315.4:c.938T>G	p.Ile313Ser	p.I313S	ENST00000219315		313	aTt/aGt	0	1	1	UPI000013C779	0	getma.org/pdb.php?prot=SETD6_HUMAN&from=287&to=328&var=I313S	ENST00000219315		ENSG00000103037	26116		25	2.045		HGNC	p.F261V		SETD6		SNV							ENST00000422445	protein_coding	getma.org/?cm=var&var=hg19,16,58552100,T,G&fts=all		hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Gene3D:2h21A02,PIRSF_domain:PIRSF011771,Superfamily_domains:0040997		I/S		G	medium	988/1553		getma.org/?cm=msa&ty=f&p=SETD6_HUMAN&rb=287&re=328&var=I313S	deleterious(0)				YES	SETD6,missense_variant,p.Ile244Ser,ENST00000394266,;SETD6,missense_variant,p.Ile289Ser,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,missense_variant,p.Ile313Ser,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,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,missense_variant,p.Phe261Val,ENST00000422445,;SETD6,3_prime_UTR_variant,,ENST00000427443,;SETD6,non_coding_transcript_exon_variant,,ENST00000463954,;SETD6,non_coding_transcript_exon_variant,,ENST00000491587,;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,;CNOT1,downstream_gene_variant,,ENST00000569924,;							MODERATE	938/1422	I313S	SETD6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000219315		CCDS54013.1			1	
MFSD2A	0	LGGM	GRCh37	1	40430925	40430925	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	12	16	.	.	ENST00000372809.5:c.435C>T	p.Leu145=	p.L145=	ENST00000372809	NM_001136493.1	145	ctC/ctT	0	1	1	UPI0000072562	0		ENST00000372809		ENSG00000168389	25897		28			HGNC	p.L132L		MFSD2A		SNV							ENST00000372811	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		L		T		578/2173				Q71RE4_HUMAN,E7EPI8_HUMAN			YES	MFSD2A,synonymous_variant,p.=,ENST00000372809,NM_001136493.1;MFSD2A,synonymous_variant,p.=,ENST00000372811,NM_032793.3;MFSD2A,synonymous_variant,p.=,ENST00000434861,;MFSD2A,5_prime_UTR_variant,,ENST00000420632,;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,;							LOW	435/1632		MFS2A_HUMAN			Transcript			.	ENSP00000361895		CCDS44118.1			1	
OR51E1	0	LGGM	GRCh37	11	4674176	4674176	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	28	16	.	.	ENST00000396952.5:c.420G>A	p.Thr140=	p.T140=	ENST00000396952	NM_152430.3	140	acG/acA	0	1	1	UPI000003ACE2	0		ENST00000396952		ENSG00000180785	15194	8.67E-05	44			HGNC	p.T140T	rs547567048	OR51E1		SNV				9.64E-05			ENST00000396952	protein_coding		A:0.0008	Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF34,Superfamily_domains:SSF81321		T		A		1070/3612					A:0	A:0	YES	OR51E1,synonymous_variant,p.=,ENST00000396952,NM_152430.3;OR51E1,intron_variant,,ENST00000530215,;		A:0.0002					LOW	420/957		O51E1_HUMAN		A:0	Transcript			.	ENSP00000380155	1.65E-05	CCDS31358.2		A:0	1	
BTK	0	LGGM	GRCh37	X	100625024	100625024	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	54	16	.	.	ENST00000308731.7:c.353A>G	p.Glu118Gly	p.E118G	ENST00000308731	NM_000061.2	118	gAa/gGa	0	1	1	UPI0000126B16	0	getma.org/pdb.php?prot=BTK_HUMAN&from=4&to=133&var=E118G	ENST00000308731		ENSG00000010671	1133		70	2.25		HGNC	p.E118G		BTK		SNV			1				ENST00000372880	protein_coding	getma.org/?cm=var&var=hg19,X,100625024,T,C&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF92,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		E/G		C	medium	517/2579		getma.org/?cm=msa&ty=f&p=BTK_HUMAN&rb=4&re=133&var=E118G	deleterious(0.03)	Q9P0L4_HUMAN,Q3MS96_HUMAN			YES	BTK,missense_variant,p.Glu118Gly,ENST00000308731,NM_000061.2,NM_001287344.1;BTK,missense_variant,p.Glu118Gly,ENST00000372880,NM_001287345.1;BTK,downstream_gene_variant,,ENST00000464567,;							MODERATE	353/1980	E118G	BTK_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000308176		CCDS14482.1			1	
MFSD2A	0	LGGM	GRCh37	1	40432312	40432312	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072447	H072447N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	40	16	.	.	ENST00000372809.5:c.793A>T	p.Ile265Phe	p.I265F	ENST00000372809	NM_001136493.1	265	Atc/Ttc	0	1	1	UPI0000072562	0	NA	ENST00000372809		ENSG00000168389	25897		56	1.83		HGNC	p.I252F		MFSD2A		SNV							ENST00000372811	protein_coding	getma.org/?cm=var&var=hg19,1,40432312,A,T&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF13347,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF29,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		I/F		T	low	936/2173		getma.org/?cm=msa&ty=f&p=MFS2A_HUMAN&rb=44&re=509&var=I265F	deleterious(0.04)	Q71RE4_HUMAN,E7EPI8_HUMAN			YES	MFSD2A,missense_variant,p.Ile265Phe,ENST00000372809,NM_001136493.1;MFSD2A,missense_variant,p.Ile252Phe,ENST00000372811,NM_032793.3;MFSD2A,missense_variant,p.Ile96Phe,ENST00000420632,;MFSD2A,missense_variant,p.Ile250Phe,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,;							MODERATE	793/1632	I265F	MFS2A_HUMAN			Transcript		possibly_damaging(0.865)	.	ENSP00000361895		CCDS44118.1			1	
CEP164	0	LGGM	GRCh37	11	117280438	117280438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	72	16	.	.	ENST00000278935.3:c.3853C>T	p.Leu1285Phe	p.L1285F	ENST00000278935	NM_014956.4	1285	Ctc/Ttc	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		88	2.255		HGNC	p.L1285F		CEP164		SNV			1				ENST00000278935	protein_coding	getma.org/?cm=var&var=hg19,11,117280438,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		L/F		T	medium	4000/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=1051&re=1459&var=L1285F	deleterious(0)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN			YES	CEP164,missense_variant,p.Leu1285Phe,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,non_coding_transcript_exon_variant,,ENST00000528706,;CEP164,upstream_gene_variant,,ENST00000533433,;CEP164,upstream_gene_variant,,ENST00000532187,;							MODERATE	3853/4383	L1285F	CE164_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000278935		CCDS31683.1			1	
NBPF14	0	LGGM	GRCh37	1	148024872	148024872	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	9	17	.	.	ENST00000310701.10:c.142A>G	p.Glu48Gly	p.E48G	ENST00000310701		48	gAg/gGg	0	1	1	UPI000059D042	0	NA	ENST00000310701		ENSG00000122497	25232		26	1.2		HGNC	p.E42G		NBPF14		SNV							ENST00000369219	protein_coding	getma.org/?cm=var&var=hg19,1,148024872,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		E/G		C	low	142/3689		getma.org/?cm=msa&ty=f&p=NBPFE_HUMAN&rb=1&re=110&var=E42G	deleterious(0)	S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN			YES	NBPF14,missense_variant,p.Glu48Gly,ENST00000310701,;NBPF14,missense_variant,p.Glu42Gly,ENST00000369219,;NBPF14,missense_variant,p.Glu53Gly,ENST00000448574,;NBPF14,missense_variant,p.Glu53Gly,ENST00000426874,;NBPF14,missense_variant,p.Glu53Gly,ENST00000458135,;NBPF14,missense_variant,p.Glu53Gly,ENST00000392972,;NBPF14,missense_variant,p.Glu53Gly,ENST00000444640,;NBPF14,missense_variant,p.Glu53Gly,ENST00000431121,;NBPF14,missense_variant,p.Glu53Gly,ENST00000436356,;							MODERATE	143/2784	E42G				Transcript		possibly_damaging(0.885)	.	ENSP00000309907					1	
CDK4	0	LGGM	GRCh37	12	58144843	58144843	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	51	17	.	.	ENST00000257904.6:c.385G>C	p.Asp129His	p.D129H	ENST00000257904	NM_000075.3	129	Gat/Cat	0	1	1	UPI0000113582	0	getma.org/pdb.php?prot=CDK4_HUMAN&from=6&to=295&var=D129H	ENST00000257904		ENSG00000135446	1773		68	0.78		HGNC	p.D55H		CDK4		SNV			1				ENST00000551800	protein_coding	getma.org/?cm=var&var=hg19,12,58144843,C,G&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF129,PROSITE_profiles:PS50011		D/H		G	neutral	751/2076		getma.org/?cm=msa&ty=f&p=CDK4_HUMAN&rb=6&re=295&var=D129H	deleterious(0)	Q6LC83_HUMAN,F8W1L8_HUMAN,F8VZZ0_HUMAN,F8VZ51_HUMAN,F8VZ13_HUMAN,F8VYH9_HUMAN,F8VXD2_HUMAN,F8VWX7_HUMAN,B4DNF9_HUMAN			YES	CDK4,missense_variant,p.Asp129His,ENST00000257904,NM_000075.3;CDK4,missense_variant,p.Asp9His,ENST00000540325,;CDK4,missense_variant,p.Asp55His,ENST00000547281,;CDK4,missense_variant,p.Asp55His,ENST00000546489,;CDK4,missense_variant,p.Asp55His,ENST00000551800,;CDK4,missense_variant,p.Asp129His,ENST00000552254,;CDK4,missense_variant,p.Asp129His,ENST00000552388,;CDK4,intron_variant,,ENST00000312990,;CDK4,intron_variant,,ENST00000549606,;TSPAN31,downstream_gene_variant,,ENST00000547992,;MARCH9,upstream_gene_variant,,ENST00000266643,NM_138396.5;TSPAN31,downstream_gene_variant,,ENST00000257910,NM_005981.3;TSPAN31,downstream_gene_variant,,ENST00000552816,;TSPAN31,downstream_gene_variant,,ENST00000548167,;TSPAN31,downstream_gene_variant,,ENST00000547472,;CDK4,downstream_gene_variant,,ENST00000552862,;CDK4,downstream_gene_variant,,ENST00000547853,;CDK4,intron_variant,,ENST00000551888,;TSPAN31,downstream_gene_variant,,ENST00000553221,;TSPAN31,downstream_gene_variant,,ENST00000550528,;TSPAN31,downstream_gene_variant,,ENST00000548093,;TSPAN31,downstream_gene_variant,,ENST00000547311,;CDK4,missense_variant,p.Asp129His,ENST00000550419,;CDK4,3_prime_UTR_variant,,ENST00000553237,;CDK4,non_coding_transcript_exon_variant,,ENST00000551706,;TSPAN31,downstream_gene_variant,,ENST00000550791,;TSPAN31,downstream_gene_variant,,ENST00000546993,;TSPAN31,downstream_gene_variant,,ENST00000549052,;TSPAN31,downstream_gene_variant,,ENST00000546922,;MARCH9,upstream_gene_variant,,ENST00000552279,;TSPAN31,downstream_gene_variant,,ENST00000553089,;CDK4,upstream_gene_variant,,ENST00000552713,;							MODERATE	385/912	D129H	CDK4_HUMAN			Transcript		possibly_damaging(0.709)	.	ENSP00000257904		CCDS8953.1			1	
PRDM10	0	LGGM	GRCh37	11	129827762	129827762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	61	17	.	.	ENST00000358825.5:c.113A>G	p.Tyr38Cys	p.Y38C	ENST00000358825	NM_020228.2	38	tAt/tGt	0	1	1	UPI00002371B3	0	NA	ENST00000358825		ENSG00000170325	13995		78	0.975		HGNC	p.Y38C		PRDM10		SNV							ENST00000358825	protein_coding	getma.org/?cm=var&var=hg19,11,129827762,T,C&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF415		Y/C		C	low	345/6322		getma.org/?cm=msa&ty=f&p=G3XAE5_HUMAN&rb=1&re=200&var=Y38C	deleterious_low_confidence(0)				YES	PRDM10,missense_variant,p.Tyr38Cys,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.Tyr38Cys,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.Tyr38Cys,ENST00000528746,;PRDM10,missense_variant,p.Tyr38Cys,ENST00000527581,;PRDM10,missense_variant,p.Tyr38Cys,ENST00000531431,;							MODERATE	113/3483	Y38C	PRD10_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000351686		CCDS44771.1			1	
ERN1	0	LGGM	GRCh37	17	62144207	62144207	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	35	18	.	.	ENST00000433197.3:c.666C>T	p.Tyr222=	p.Y222=	ENST00000433197	NM_001433.3	222	taC/taT	0	1	1	UPI0000201263	0		ENST00000433197		ENSG00000178607	3449	8.73E-05	53			HGNC	p.Y222Y	rs757259673,COSM4068708,COSM4068707	ERN1		SNV						0,1,1	ENST00000433197	protein_coding			hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Gene3D:2.140.10.10,Superfamily_domains:SSF50998		Y		A		762/7876	1.51E-05						YES	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,;					0,1,1		LOW	666/2934		ERN1_HUMAN			Transcript			.	ENSP00000401445	1.65E-05	CCDS45762.1			1	
DNAH7	0	LGGM	GRCh37	2	196765113	196765113	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	37	19	.	.	ENST00000312428.6:c.4441A>G	p.Ile1481Val	p.I1481V	ENST00000312428	NM_018897.2	1481	Att/Gtt	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=1290&to=1520&var=I1481V	ENST00000312428		ENSG00000118997	18661		56	2.16		HGNC	p.I1481V		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196765113,T,C&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774,Superfamily_domains:SSF52540		I/V		C	medium	4542/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1290&re=1520&var=I1481V	deleterious(0)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Ile1481Val,ENST00000312428,NM_018897.2;DNAH7,non_coding_transcript_exon_variant,,ENST00000475293,;							MODERATE	4441/12075	I1481V	DYH7_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000311273		CCDS42794.1			1	
HEMGN	0	LGGM	GRCh37	9	100698475	100698475	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	17	19	.	.	ENST00000259456.3:c.151G>A	p.Glu51Lys	p.E51K	ENST00000259456	NM_018437.4	51	Gaa/Aaa	0	1	1	UPI000004D311	0	NA	ENST00000259456		ENSG00000136929	17509		36	1.1		HGNC	p.E51K	COSM1701394	HEMGN		SNV						1	ENST00000259456	protein_coding	getma.org/?cm=var&var=hg19,9,100698475,C,T&fts=all		hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993		E/K		T	low	295/2192		getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=E51K	deleterious(0.01)				YES	HEMGN,missense_variant,p.Glu51Lys,ENST00000259456,NM_018437.4,NM_197978.2;					1		MODERATE	151/1455	E51K	HEMGN_HUMAN			Transcript		benign(0.043)	.	ENSP00000259456		CCDS6731.1			1	
FAM47C	0	LGGM	GRCh37	X	37028663	37028663	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	50	20	.	.	ENST00000358047.3:c.2180G>A	p.Cys727Tyr	p.C727Y	ENST00000358047	NM_001013736.2	727	tGc/tAc	0	1	1	UPI000041ABF8	0	NA	ENST00000358047		ENSG00000198173	25301		70	1.1		HGNC	p.C727Y		FAM47C		SNV							ENST00000358047	protein_coding	getma.org/?cm=var&var=hg19,X,37028663,G,A&fts=all		Pfam_domain:PF14642,Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF203		C/Y		A	low	2232/3308		getma.org/?cm=msa&ty=f&p=FA47C_HUMAN&rb=580&re=779&var=C727Y	tolerated(0.62)				YES	FAM47C,missense_variant,p.Cys727Tyr,ENST00000358047,NM_001013736.2;							MODERATE	2180/3108	C727Y	FA47C_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000367913		CCDS35227.1			1	
FANCG	0	LGGM	GRCh37	9	35077286	35077286	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	37	22	.	.	ENST00000378643.3:c.621C>T	p.Leu207=	p.L207=	ENST00000378643	NM_004629.1	207	ctC/ctT	0	1	1	UPI0000000CB4	0		ENST00000378643		ENSG00000221829	3588		59			HGNC	p.L207L		FANCG		SNV			1				ENST00000378643	protein_coding			hmmpanther:PTHR15254		L		A		1113/2631				Q53XM5_HUMAN,C9JSE3_HUMAN			YES	FANCG,synonymous_variant,p.=,ENST00000378643,NM_004629.1;FANCG,synonymous_variant,p.=,ENST00000448890,;VCP,upstream_gene_variant,,ENST00000358901,NM_007126.3;VCP,upstream_gene_variant,,ENST00000448530,;FANCG,upstream_gene_variant,,ENST00000476212,;FANCG,3_prime_UTR_variant,,ENST00000425676,;VCP,upstream_gene_variant,,ENST00000493886,;FANCG,downstream_gene_variant,,ENST00000462124,;FANCG,upstream_gene_variant,,ENST00000481254,;FANCG,upstream_gene_variant,,ENST00000474894,;FANCG,downstream_gene_variant,,ENST00000461149,;							LOW	621/1869		FANCG_HUMAN			Transcript			.	ENSP00000367910		CCDS6574.1			1	
KRTAP5-2	0	LGGM	GRCh37	11	1619173	1619202	+	inframe_deletion	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	novel	by Submitter	H072447	H072447N.bam	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	54	27	.	.	ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	p.Gly103_Gly112del	p.G103_G112del	ENST00000412090	NM_001004325.1	93	ggCTCCAAGGGGGGCTGTGGCTCCTGTGGGGGt/ggt	0	1	1	UPI0000241C20	0		ENST00000412090		ENSG00000205867	23597		81			HGNC	p.93_103del	rs760014834,COSM1352866	KRTAP5-2		deletion						0,1	ENST00000412090	protein_coding			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF29,Low_complexity_(Seg):seg		GSKGGCGSCGG/G		-		323-352/1116							YES	KRTAP5-2,inframe_deletion,p.Gly103_Gly112del,ENST00000412090,NM_001004325.1;KRTAP5-AS1,non_coding_transcript_exon_variant,,ENST00000424148,;KRTAP5-AS1,downstream_gene_variant,,ENST00000524947,;KRTAP5-AS1,downstream_gene_variant,,ENST00000532922,;KRTAP5-AS1,downstream_gene_variant,,ENST00000534077,;					0,1		MODERATE	279-308/534		KRA52_HUMAN			Transcript			.	ENSP00000400041		CCDS31331.1			1	
HS3ST4	0	LGGM	GRCh37	16	26146943	26146943	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	34	23	.	.	ENST00000331351.5:c.745C>T	p.Pro249Ser	p.P249S	ENST00000331351	NM_006040.2	249	Ccc/Tcc	0	1	1	UPI000040938A	0	getma.org/pdb.php?prot=HS3S4_HUMAN&from=197&to=446&var=P249S	ENST00000331351		ENSG00000182601	5200		57	3.31		HGNC	p.P249S		HS3ST4		SNV							ENST00000331351	protein_coding	getma.org/?cm=var&var=hg19,16,26146943,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Superfamily_domains:SSF52540		P/S		T	medium	1137/3203		getma.org/?cm=msa&ty=f&p=HS3S4_HUMAN&rb=197&re=446&var=P249S	deleterious(0)	A5H458_HUMAN			YES	HS3ST4,missense_variant,p.Pro249Ser,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;							MODERATE	745/1371	P249S	HS3S4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330606		CCDS53995.1			1	
PHC3	0	LGGM	GRCh37	3	169854415	169854415	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	59	23	.	.	ENST00000495893.2:c.711A>G	p.Val237=	p.V237=	ENST00000495893	NM_024947.3	237	gtA/gtG	0	1		UPI000006D99D	0		ENST00000494943		ENSG00000173889	15682		82			HGNC	p.V237V		PHC3		SNV							ENST00000495893	protein_coding			hmmpanther:PTHR12247:SF20,hmmpanther:PTHR12247		V		C		744/5030								PHC3,synonymous_variant,p.=,ENST00000495893,NM_024947.3;PHC3,synonymous_variant,p.=,ENST00000494943,;PHC3,synonymous_variant,p.=,ENST00000467570,;PHC3,synonymous_variant,p.=,ENST00000475729,;PHC3,synonymous_variant,p.=,ENST00000466189,;PHC3,intron_variant,,ENST00000484931,;PHC3,3_prime_UTR_variant,,ENST00000479467,;PHC3,non_coding_transcript_exon_variant,,ENST00000497171,;							LOW	675/2952		PHC3_HUMAN			Transcript			.	ENSP00000420271					1	
SNX13	0	LGGM	GRCh37	7	17861233	17861233	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072447	H072447N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	59	24	.	.	ENST00000428135.3:c.1744G>T	p.Ala582Ser	p.A582S	ENST00000428135	NM_015132.4	582	Gcc/Tcc	0	1	1	UPI000002B3E8	0	getma.org/pdb.php?prot=SNX13_HUMAN&from=574&to=687&var=A593S	ENST00000428135		ENSG00000071189	21335		83	1.32		HGNC	p.A582S		SNX13		SNV							ENST00000428135	protein_coding	getma.org/?cm=var&var=hg19,7,17861233,C,A&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26,SMART_domains:SM00312,Superfamily_domains:SSF64268		A/S		A	low	1943/6357		getma.org/?cm=msa&ty=f&p=SNX13_HUMAN&rb=574&re=687&var=A593S	deleterious(0.01)	B3KN60_HUMAN			YES	SNX13,missense_variant,p.Ala593Ser,ENST00000409389,;SNX13,missense_variant,p.Ala582Ser,ENST00000428135,NM_015132.4;SNX13,non_coding_transcript_exon_variant,,ENST00000496855,;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;							MODERATE	1744/2874	A593S	SNX13_HUMAN			Transcript		possibly_damaging(0.511)	.	ENSP00000398789		CCDS47551.1			1	
CPNE4	0	LGGM	GRCh37	3	131388543	131388543	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	40	25	.	.	ENST00000512055.1:c.657C>T	p.Ser219=	p.S219=	ENST00000512055		219	agC/agT	0	1		UPI0000127C14	0		ENST00000429747		ENSG00000196353	2317		65			HGNC	p.S219S	rs570865724	CPNE4		SNV							ENST00000429747	protein_coding			PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		S		A		1092/2564	3.01E-05			Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN				CPNE4,synonymous_variant,p.=,ENST00000512055,;CPNE4,synonymous_variant,p.=,ENST00000429747,NM_130808.1;CPNE4,synonymous_variant,p.=,ENST00000511604,;CPNE4,synonymous_variant,p.=,ENST00000512332,;CPNE4,synonymous_variant,p.=,ENST00000502818,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;							LOW	657/1674		CPNE4_HUMAN			Transcript			.	ENSP00000411904	1.65E-05	CCDS3072.1			1	
PCDHB10	0	LGGM	GRCh37	5	140572753	140572753	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	74	26	.	.	ENST00000239446.4:c.628T>C	p.Leu210=	p.L210=	ENST00000239446	NM_018930.3	210	Tta/Cta	0	1	1	UPI0000048F2E	0		ENST00000239446		ENSG00000120324	8681		100			HGNC	p.L210L	COSM3610825	PCDHB10		SNV						1	ENST00000239446	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		C		812/3274				O95883_HUMAN			YES	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;					1		LOW	628/2403		PCDBA_HUMAN			Transcript			.	ENSP00000239446		CCDS4252.1			1	
CPA4	0	LGGM	GRCh37	7	129950669	129950669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	27	27	.	.	ENST00000222482.4:c.836G>A	p.Gly279Glu	p.G279E	ENST00000222482	NM_016352.3	279	gGa/gAa	0	1	1	UPI0000048F00	0	getma.org/pdb.php?prot=CBPA4_HUMAN&from=129&to=408&var=G279E	ENST00000222482		ENSG00000128510	15740		54	4.115		HGNC	p.G246E	COSM1699357	CPA4		SNV						1	ENST00000445470	protein_coding	getma.org/?cm=var&var=hg19,7,129950669,G,A&fts=all		hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF52,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		G/E		A	high	864/2797		getma.org/?cm=msa&ty=f&p=CBPA4_HUMAN&rb=129&re=408&var=G279E	deleterious(0)	C9J7D6_HUMAN,B7Z5J4_HUMAN,A4D1M3_HUMAN			YES	CPA4,missense_variant,p.Gly279Glu,ENST00000222482,NM_016352.3;CPA4,missense_variant,p.Gly246Glu,ENST00000445470,NM_001163446.1;CPA4,missense_variant,p.Gly175Glu,ENST00000493259,;CPA4,downstream_gene_variant,,ENST00000473956,;CPA4,downstream_gene_variant,,ENST00000492072,;CPA4,non_coding_transcript_exon_variant,,ENST00000488025,;CPA4,downstream_gene_variant,,ENST00000474254,;CPA4,downstream_gene_variant,,ENST00000470542,;					1		MODERATE	836/1266	G279E	CBPA4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000222482		CCDS5818.1			1	
PCDHB5	0	LGGM	GRCh37	5	140517382	140517382	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	59	27	.	.	ENST00000231134.5:c.2366G>A	p.Arg789Gln	p.R789Q	ENST00000231134	NM_015669.2	789	cGg/cAg	0	1	1	UPI00001273E1	0	NA	ENST00000231134		ENSG00000113209	8690		86	1.66		HGNC	p.R789Q	rs781782799,COSM1434215	PCDHB5		SNV						0,1	ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140517382,G,A&fts=all		hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028		R/Q		A	low	2583/2904	1.52E-05	getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=663&re=795&var=R789Q	tolerated_low_confidence(0.25)				YES	PCDHB5,missense_variant,p.Arg789Gln,ENST00000231134,NM_015669.2;					0,1		MODERATE	2366/2388	R789Q	PCDB5_HUMAN			Transcript		benign(0.021)	.	ENSP00000231134	8.24E-06	CCDS4247.1			1	
NOL8	0	LGGM	GRCh37	9	95076847	95076847	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072447	H072447N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	58	31	.	.	ENST00000545558.1:c.2060A>C	p.Lys687Thr	p.K687T	ENST00000545558		687	aAg/aCg	0	1		UPI0000211A3D	0	NA	ENST00000442668		ENSG00000198000	23387		89	0.69		HGNC	p.K687T		NOL8		SNV							ENST00000535387	protein_coding	getma.org/?cm=var&var=hg19,9,95076847,T,G&fts=all		hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8		K/T		G	neutral	2359/4281		getma.org/?cm=msa&ty=f&p=NOL8_HUMAN&rb=684&re=883&var=K687T	deleterious(0.04)	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN				NOL8,missense_variant,p.Lys687Thr,ENST00000545558,;NOL8,missense_variant,p.Lys687Thr,ENST00000442668,NM_017948.5;NOL8,missense_variant,p.Lys619Thr,ENST00000358855,NM_001256394.1;NOL8,missense_variant,p.Lys619Thr,ENST00000542053,;NOL8,missense_variant,p.Lys687Thr,ENST00000535387,;NOL8,missense_variant,p.Lys687Thr,ENST00000432670,;NOL8,downstream_gene_variant,,ENST00000433029,;NOL8,downstream_gene_variant,,ENST00000421075,;NOL8,downstream_gene_variant,,ENST00000535807,;NOL8,downstream_gene_variant,,ENST00000411621,;NOL8,downstream_gene_variant,,ENST00000536624,;NOL8,downstream_gene_variant,,ENST00000542613,;NOL8,missense_variant,p.Lys687Thr,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000434228,;NOL8,intron_variant,,ENST00000545444,;NOL8,downstream_gene_variant,,ENST00000445919,;NOL8,downstream_gene_variant,,ENST00000467230,;NOL8,downstream_gene_variant,,ENST00000543260,;NOL8,downstream_gene_variant,,ENST00000542573,;NOL8,upstream_gene_variant,,ENST00000538802,;							MODERATE	2060/3504	K687T	NOL8_HUMAN			Transcript		possibly_damaging(0.638)	.	ENSP00000401177		CCDS47993.1			1	
RALB	0	LGGM	GRCh37	2	121047229	121047229	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	32	34	.	.	ENST00000272519.5:c.397G>T	p.Glu133Ter	p.E133*	ENST00000272519	NM_002881.2	133	Gag/Tag	0	1	1	UPI000000124F	0	NA	ENST00000272519		ENSG00000144118	9840		66	0		HGNC	p.E133X		RALB		SNV							ENST00000420510	protein_coding	getma.org/?cm=var&var=hg19,2,121047229,G,T&fts=all		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF199,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540		E/*		T	NA	667/2344		NA		C9JYR1_HUMAN,C9J6B1_HUMAN			YES	RALB,stop_gained,p.Glu133Ter,ENST00000272519,NM_002881.2;RALB,stop_gained,p.Glu154Ter,ENST00000404963,;RALB,stop_gained,p.Glu155Ter,ENST00000474855,;RALB,stop_gained,p.Glu133Ter,ENST00000420510,;RALB,stop_gained,p.Glu133Ter,ENST00000412383,;RALB,stop_gained,p.Glu155Ter,ENST00000447591,;RALB,downstream_gene_variant,,ENST00000449649,;RALB,non_coding_transcript_exon_variant,,ENST00000470417,;RALB,3_prime_UTR_variant,,ENST00000431732,;							HIGH	397/621	E133*	RALB_HUMAN			Transcript			.	ENSP00000272519		CCDS2131.1			1	
KRT9	0	LGGM	GRCh37	17	39724840	39724840	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	87	36	.	.	ENST00000246662.4:c.1090C>T	p.Gln364Ter	p.Q364*	ENST00000246662	NM_000226.3	364	Cag/Tag	0	1	1	UPI00001AE6F7	0	NA	ENST00000246662		ENSG00000171403	6447		123	0		HGNC	p.Q131X		KRT9		SNV			1				ENST00000588431	protein_coding	getma.org/?cm=var&var=hg19,17,39724840,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038		Q/*		A	NA	1156/2287		NA		K7EQQ3_HUMAN			YES	KRT9,stop_gained,p.Gln364Ter,ENST00000246662,NM_000226.3;KRT9,stop_gained,p.Gln131Ter,ENST00000588431,;							HIGH	1090/1872	Q364*	K1C9_HUMAN			Transcript			.	ENSP00000246662		CCDS32654.1			1	
MUC12	0	LGGM	GRCh37	7	100635346	100635346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	96	42	.	.	ENST00000536621.1:c.1502G>T	p.Arg501Ile	p.R501I	ENST00000536621	NM_001164462.1	501	aGa/aTa	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		138	0		HGNC	p.R501I		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100635346,G,T&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		R/I		T	neutral	1931/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=R644I						MUC12,missense_variant,p.Arg644Ile,ENST00000379442,;MUC12,missense_variant,p.Arg501Ile,ENST00000536621,NM_001164462.1;							MODERATE	1931/16437	R644I	MUC12_HUMAN			Transcript		benign(0.318)	.	ENSP00000368755					1	
VWA3B	0	LGGM	GRCh37	2	98750303	98750303	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072447	H072447N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072447N.bam, H072447T.bam	Illumina HiSeq	115	42	.	.	ENST00000477737.1:c.889G>T	p.Glu297Ter	p.E297*	ENST00000477737	NM_144992.4	297	Gag/Tag	0	1	1	UPI0000E9B173	0	NA	ENST00000477737		ENSG00000168658	28385		157	0		HGNC	p.E147X	rs200133181	VWA3B	6.06E-05	SNV							ENST00000451075	protein_coding	getma.org/?cm=var&var=hg19,2,98750303,G,T&fts=all	A:0	hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104		E/*		T	NA	1093/4454		NA		Q53RD3_HUMAN	A:0	A:0	YES	VWA3B,stop_gained,p.Glu297Ter,ENST00000477737,NM_144992.4;VWA3B,stop_gained,p.Glu297Ter,ENST00000435344,;VWA3B,stop_gained,p.Glu147Ter,ENST00000451075,;VWA3B,non_coding_transcript_exon_variant,,ENST00000448079,;VWA3B,stop_gained,p.Glu297Ter,ENST00000416277,;VWA3B,stop_gained,p.Glu297Ter,ENST00000433678,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,3_prime_UTR_variant,,ENST00000422503,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;VWA3B,non_coding_transcript_exon_variant,,ENST00000465930,;VWA3B,intron_variant,,ENST00000448638,;		A:0.0026					HIGH	889/3885	E297*	VWA3B_HUMAN		A:0	Transcript			.	ENSP00000417955	8.26E-06	CCDS42718.1		A:0.0133	1	
RAB37	0	LGGM	GRCh37	17	72741202	72741202	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	11	2	.	.	ENST00000392614.4:c.560T>C	p.Leu187Ser	p.L187S	ENST00000392614	NM_001163989.1	187	tTa/tCa	0	1		UPI00000015D4	0	getma.org/pdb.php?prot=RAB37_HUMAN&from=31&to=193&var=L182S	ENST00000392613		ENSG00000172794	30268		13	0.38		HGNC	p.L187S		RAB37		SNV							ENST00000392614	protein_coding	getma.org/?cm=var&var=hg19,17,72741202,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF381,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00177,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		L/S		C	neutral	601/2617		getma.org/?cm=msa&ty=f&p=RAB37_HUMAN&rb=31&re=193&var=L182S	tolerated(0.1)	B3KPZ5_HUMAN,A8MTC6_HUMAN				RAB37,missense_variant,p.Leu175Ser,ENST00000340415,NM_175738.4;RAB37,missense_variant,p.Leu182Ser,ENST00000392610,;RAB37,missense_variant,p.Leu187Ser,ENST00000392614,NM_001163989.1;RAB37,missense_variant,p.Leu150Ser,ENST00000392615,;RAB37,missense_variant,p.Leu182Ser,ENST00000392613,NM_001006638.2;RAB37,missense_variant,p.Leu145Ser,ENST00000392612,NM_001163990.1;RAB37,missense_variant,p.Leu175Ser,ENST00000402449,;RAB37,missense_variant,p.Leu155Ser,ENST00000528438,;SLC9A3R1,upstream_gene_variant,,ENST00000262613,NM_004252.4;SLC9A3R1,upstream_gene_variant,,ENST00000583369,;MIR3615,upstream_gene_variant,,ENST00000581999,;MIR3615,downstream_gene_variant,,ENST00000585285,;RAB37,missense_variant,p.Leu182Ser,ENST00000481224,;RAB37,non_coding_transcript_exon_variant,,ENST00000392617,;RAB37,non_coding_transcript_exon_variant,,ENST00000488977,;RAB37,intron_variant,,ENST00000531420,;RAB37,downstream_gene_variant,,ENST00000577548,;RAB37,downstream_gene_variant,,ENST00000533530,;RAB37,downstream_gene_variant,,ENST00000527040,;							MODERATE	545/672	L182S	RAB37_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000376389		CCDS32722.1			1	
UNC45B	0	LGGM	GRCh37	17	33510445	33510445	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	13	3	.	.	ENST00000268876.5:c.2380-1G>T		p.X794_splice	ENST00000268876	NM_173167.2			0	1	1	UPI0000074455	0		ENST00000268876		ENSG00000141161	14304		16			HGNC	-		UNC45B		SNV			1				ENST00000378449	protein_coding							T		-/5679							YES	UNC45B,splice_acceptor_variant,,ENST00000268876,NM_173167.2;UNC45B,splice_acceptor_variant,,ENST00000433649,NM_001033576.1,NM_001267052.1;UNC45B,splice_acceptor_variant,,ENST00000394570,;UNC45B,splice_acceptor_variant,,ENST00000378449,;UNC45B,splice_acceptor_variant,,ENST00000591048,;							HIGH	2380/2796		UN45B_HUMAN			Transcript			.	ENSP00000268876		CCDS11292.1			1	
WDR70	0	LGGM	GRCh37	5	37438049	37438049	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	3	.	.	ENST00000265107.4:c.518C>A	p.Ser173Ter	p.S173*	ENST00000265107	NM_018034.2	173	tCg/tAg	0	1	1	UPI0000049FC2	0	NA	ENST00000265107		ENSG00000082068	25495		41	0		HGNC	p.S173X		WDR70		SNV							ENST00000504564	protein_coding	getma.org/?cm=var&var=hg19,5,37438049,C,A&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR16017,hmmpanther:PTHR16017:SF0		S/*		A	NA	674/2983		NA					YES	WDR70,stop_gained,p.Ser173Ter,ENST00000265107,NM_018034.2;WDR70,stop_gained,p.Ser173Ter,ENST00000504564,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;							HIGH	518/1965	S173*	WDR70_HUMAN			Transcript			.	ENSP00000265107		CCDS34147.1			1	
TBC1D10C	0	LGGM	GRCh37	11	67173171	67173171	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	17	3	.	.	ENST00000312390.5:c.466G>T	p.Gly156Trp	p.G156W	ENST00000312390	NM_198517.3	156	Ggg/Tgg	0	1		UPI00000746CA	0	getma.org/pdb.php?prot=TB10C_HUMAN&from=95&to=295&var=G156W	ENST00000542590		ENSG00000175463	24702		20	3.65		HGNC	p.G156C		TBC1D10C		SNV							ENST00000526387	protein_coding	getma.org/?cm=var&var=hg19,11,67173171,G,T&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF264,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		G/W		T	high	480/1659		getma.org/?cm=msa&ty=f&p=TB10C_HUMAN&rb=95&re=295&var=G156W	deleterious(0)					TBC1D10C,missense_variant,p.Gly156Trp,ENST00000312390,NM_198517.3;TBC1D10C,missense_variant,p.Gly156Trp,ENST00000542590,;TBC1D10C,missense_variant,p.Gly156Cys,ENST00000526387,NM_001256508.1;PPP1CA,intron_variant,,ENST00000542876,;PPP1CA,intron_variant,,ENST00000546202,;PPP1CA,upstream_gene_variant,,ENST00000376745,NM_001008709.1,NM_002708.3;PPP1CA,upstream_gene_variant,,ENST00000312989,;PPP1CA,upstream_gene_variant,,ENST00000358239,NM_206873.1;PPP1CA,upstream_gene_variant,,ENST00000527663,;PPP1CA,intron_variant,,ENST00000537694,;PPP1CA,upstream_gene_variant,,ENST00000532446,;PPP1CA,upstream_gene_variant,,ENST00000529724,;TBC1D10C,missense_variant,p.Gly156Trp,ENST00000529635,;TBC1D10C,splice_region_variant,,ENST00000530967,;TBC1D10C,splice_region_variant,,ENST00000533745,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000526474,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000529132,;PPP1CA,upstream_gene_variant,,ENST00000526510,;TBC1D10C,upstream_gene_variant,,ENST00000524662,;							MODERATE	466/1341	G156W	TB10C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000443654		CCDS8162.1			1	
NCKAP1L	0	LGGM	GRCh37	12	54936438	54936438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	3	.	.	ENST00000293373.6:c.3353G>T	p.Arg1118Leu	p.R1118L	ENST00000293373	NM_005337.4	1118	cGg/cTg	0	1	1	UPI00001C0439	0	getma.org/pdb.php?prot=NCKPL_HUMAN&from=6&to=1125&var=R1118L	ENST00000293373		ENSG00000123338	4862		39	1.59		HGNC	p.R1068L		NCKAP1L		SNV							ENST00000545638	protein_coding	getma.org/?cm=var&var=hg19,12,54936438,G,T&fts=all		hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735		R/L		T	low	3432/4720		getma.org/?cm=msa&ty=f&p=NCKPL_HUMAN&rb=6&re=1125&var=R1118L	deleterious(0.03)	Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN			YES	NCKAP1L,missense_variant,p.Arg1118Leu,ENST00000293373,NM_005337.4;NCKAP1L,missense_variant,p.Arg1068Leu,ENST00000545638,NM_001184976.1;RP11-1049A21.2,downstream_gene_variant,,ENST00000547942,;NCKAP1L,3_prime_UTR_variant,,ENST00000548221,;							MODERATE	3353/3384	R1118L	NCKPL_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000293373		CCDS31813.1			1	
PLEKHO2	0	LGGM	GRCh37	15	65140820	65140820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	34	3	.	.	ENST00000323544.4:c.41G>T	p.Arg14Leu	p.R14L	ENST00000323544	NM_025201.4	14	cGg/cTg	0	1	1	UPI000004D254	0	NA	ENST00000323544		ENSG00000241839	30026		37	0.345		HGNC	p.R14L		PLEKHO2		SNV							ENST00000323544	protein_coding	getma.org/?cm=var&var=hg19,15,65140820,G,T&fts=all		hmmpanther:PTHR15871,hmmpanther:PTHR15871:SF2		R/L		T	neutral	169/3720		getma.org/?cm=msa&ty=f&p=PKHO2_HUMAN&rb=1&re=48&var=R14L	deleterious(0.01)				YES	PLEKHO2,missense_variant,p.Arg14Leu,ENST00000323544,NM_025201.4,NM_001195059.1;AC069368.3,missense_variant,p.Arg14Leu,ENST00000437723,;AC069368.3,non_coding_transcript_exon_variant,,ENST00000502574,;							MODERATE	41/1473	R14L	PKHO2_HUMAN			Transcript		possibly_damaging(0.478)	.	ENSP00000326706		CCDS10196.1			1	
CDH20	0	LGGM	GRCh37	18	59221631	59221631	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	13	3	.	.	ENST00000262717.4:c.2109C>A	p.Pro703=	p.P703=	ENST00000262717		703	ccC/ccA	0	1	1	UPI000013D30D	0		ENST00000262717		ENSG00000101542	1760		16			HGNC	p.P703P	COSM392893	CDH20		SNV						1	ENST00000538374	protein_coding			Pfam_domain:PF01049,hmmpanther:PTHR24027:SF84,hmmpanther:PTHR24027		P		A		2507/3882				Q8N9J3_HUMAN,K7ESP2_HUMAN			YES	CDH20,synonymous_variant,p.=,ENST00000262717,;CDH20,synonymous_variant,p.=,ENST00000536675,NM_031891.2;CDH20,synonymous_variant,p.=,ENST00000538374,;CDH20,downstream_gene_variant,,ENST00000587582,;					1		LOW	2109/2406		CAD20_HUMAN			Transcript			.	ENSP00000262717		CCDS11977.1			1	
KRT18	0	LGGM	GRCh37	12	53345397	53345397	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	29	3	.	.	ENST00000388835.3:c.790C>A	p.Arg264=	p.R264=	ENST00000388835	NM_000224.2	264	Cga/Aga	0	1	1	UPI000004284B	0		ENST00000388835		ENSG00000111057	6430		32			HGNC	p.R264R		KRT18		SNV			1				ENST00000388835	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35		R		A		1000/1562				I6L965_HUMAN			YES	KRT18,synonymous_variant,p.=,ENST00000550600,;KRT18,synonymous_variant,p.=,ENST00000388835,NM_000224.2;KRT18,synonymous_variant,p.=,ENST00000388837,NM_199187.1;KRT8,upstream_gene_variant,,ENST00000552551,;KRT8,upstream_gene_variant,,ENST00000546897,NM_001256293.1;KRT8,upstream_gene_variant,,ENST00000546826,;KRT8,upstream_gene_variant,,ENST00000548998,;AC107016.2,upstream_gene_variant,,ENST00000581256,;KRT8,upstream_gene_variant,,ENST00000549198,;KRT8,upstream_gene_variant,,ENST00000551318,;KRT8,upstream_gene_variant,,ENST00000552877,;KRT18,non_coding_transcript_exon_variant,,ENST00000549078,;KRT18,non_coding_transcript_exon_variant,,ENST00000548015,;KRT18,non_coding_transcript_exon_variant,,ENST00000546656,;KRT18,upstream_gene_variant,,ENST00000548496,;KRT8,upstream_gene_variant,,ENST00000546921,;AC107016.1,downstream_gene_variant,,ENST00000432903,;							LOW	790/1293		K1C18_HUMAN			Transcript			.	ENSP00000373487		CCDS31809.1			1	
C17orf97	0	LGGM	GRCh37	17	263526	263526	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	3	.	.	ENST00000360127.6:c.892G>T	p.Asp298Tyr	p.D298Y	ENST00000360127	NM_001013672.4	298	Gac/Tac	0	1	1	UPI0001AE65CA	0	NA	ENST00000360127		ENSG00000187624	33800		31	0.55		HGNC	p.D298Y	COSM3958126,COSM3958127	C17orf97		SNV						1,1	ENST00000360127	protein_coding	getma.org/?cm=var&var=hg19,17,263526,G,T&fts=all				D/Y		T	neutral	908/1839		getma.org/?cm=msa&ty=f&p=CQ097_HUMAN&rb=1&re=451&var=D328Y	tolerated_low_confidence(0.12)				YES	C17orf97,missense_variant,p.Asp298Tyr,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;					1,1		MODERATE	892/1272	D328Y	CQ097_HUMAN			Transcript		possibly_damaging(0.626)	.	ENSP00000353245		CCDS32519.2			1	
OR1E2	0	LGGM	GRCh37	17	3336347	3336347	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	22	3	.	.	ENST00000248384.1:c.789C>A	p.Thr263=	p.T263=	ENST00000248384	NM_003554.1	263	acC/acA	0	1	1	UPI0000041BBF	0		ENST00000248384		ENSG00000127780	8190		25			HGNC	p.T263T	rs781363869	OR1E2		SNV							ENST00000248384	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF137,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T		T		789/972	3.00E-05			Q6IFM7_HUMAN			YES	OR1E2,synonymous_variant,p.=,ENST00000248384,NM_003554.1;							LOW	789/972		OR1E2_HUMAN			Transcript			.	ENSP00000248384	1.65E-05	CCDS11026.1			1	
ZNF774	0	LGGM	GRCh37	15	90903532	90903532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	47	3	.	.	ENST00000354377.3:c.469G>T	p.Gly157Trp	p.G157W	ENST00000354377	NM_001004309.2	157	Ggg/Tgg	0	1	1	UPI00001A73D8	0	getma.org/pdb.php?prot=ZN774_HUMAN&from=69&to=164&var=G157W	ENST00000354377		ENSG00000196391	33108		50	2.02		HGNC	p.G157W		ZNF774		SNV							ENST00000354377	protein_coding	getma.org/?cm=var&var=hg19,15,90903532,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF66,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	medium	655/3202		getma.org/?cm=msa&ty=f&p=ZN774_HUMAN&rb=69&re=164&var=G157W	deleterious(0)	H0YNW6_HUMAN			YES	ZNF774,missense_variant,p.Gly157Trp,ENST00000354377,NM_001004309.2;ZNF774,intron_variant,,ENST00000379090,;ZNF774,downstream_gene_variant,,ENST00000558586,;ZNF774,non_coding_transcript_exon_variant,,ENST00000558115,;ZNF774,downstream_gene_variant,,ENST00000560038,;							MODERATE	469/1452	G157W	ZN774_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000346348		CCDS32330.1			1	
RANBP10	0	LGGM	GRCh37	16	67761694	67761694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	30	3	.	.	ENST00000317506.3:c.1580G>T	p.Arg527Leu	p.R527L	ENST00000317506	NM_020850.1	527	cGg/cTg	0	1	1	UPI00001C1FA6	0	NA	ENST00000317506		ENSG00000141084	29285		33	1.635		HGNC	p.R440L		RANBP10		SNV							ENST00000411657	protein_coding	getma.org/?cm=var&var=hg19,16,67761694,C,A&fts=all		SMART_domains:SM00757,Pfam_domain:PF10607,hmmpanther:PTHR12864,hmmpanther:PTHR12864:SF17		R/L		A	low	1696/5305		getma.org/?cm=msa&ty=f&p=RBP10_HUMAN&rb=291&re=602&var=R527L	deleterious(0.03)	B3KP49_HUMAN			YES	RANBP10,missense_variant,p.Arg527Leu,ENST00000317506,NM_020850.1;RANBP10,missense_variant,p.Arg298Leu,ENST00000536251,;RANBP10,missense_variant,p.Arg557Leu,ENST00000602677,;RANBP10,missense_variant,p.Arg440Leu,ENST00000411657,;RANBP10,missense_variant,p.Arg501Leu,ENST00000448631,;RANBP10,downstream_gene_variant,,ENST00000425512,;RANBP10,3_prime_UTR_variant,,ENST00000602506,;RANBP10,downstream_gene_variant,,ENST00000602525,;RANBP10,downstream_gene_variant,,ENST00000602638,;							MODERATE	1580/1863	R527L	RBP10_HUMAN			Transcript		benign(0.365)	.	ENSP00000316589		CCDS32469.1			1	
TRMT1	0	LGGM	GRCh37	19	13226841	13226841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	25	3	.	.	ENST00000592062.1:c.280C>A	p.Arg94Ser	p.R94S	ENST00000592062		94	Cgc/Agc	0	1		UPI0000000A02	0	NA	ENST00000357720		ENSG00000104907	25980		28	1.4		HGNC	p.S80X		TRMT1		SNV							ENST00000586224	protein_coding	getma.org/?cm=var&var=hg19,19,13226841,G,T&fts=all		Pfam_domain:PF02005,PROSITE_profiles:PS51626,hmmpanther:PTHR10631,hmmpanther:PTHR10631:SF3,Superfamily_domains:SSF53335,TIGRFAM_domain:TIGR00308		R/S		T	low	409/2142		getma.org/?cm=msa&ty=f&p=TRM1_HUMAN&rb=45&re=500&var=R94S	deleterious(0)	K7EQY6_HUMAN,K7EJX9_HUMAN,B4E3A3_HUMAN,B4DHS5_HUMAN				TRMT1,missense_variant,p.Arg94Ser,ENST00000592062,;TRMT1,missense_variant,p.Arg94Ser,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Arg94Ser,ENST00000221504,NM_001142554.1;TRMT1,missense_variant,p.Arg94Ser,ENST00000357720,NM_001136035.2;TRMT1,missense_variant,p.Arg94Ser,ENST00000592814,;TRMT1,missense_variant,p.Arg94Ser,ENST00000588229,;TRMT1,intron_variant,,ENST00000587487,;NACC1,upstream_gene_variant,,ENST00000292431,NM_052876.3;NACC1,upstream_gene_variant,,ENST00000586171,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592892,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588813,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593257,;TRMT1,intron_variant,,ENST00000592729,;TRMT1,intron_variant,,ENST00000591425,;TRMT1,stop_gained,p.Ser80Ter,ENST00000586224,;TRMT1,start_lost,p.Arg1?,ENST00000587633,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,non_coding_transcript_exon_variant,,ENST00000593157,;TRMT1,non_coding_transcript_exon_variant,,ENST00000585622,;TRMT1,non_coding_transcript_exon_variant,,ENST00000590812,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592606,;TRMT1,intron_variant,,ENST00000591717,;TRMT1,intron_variant,,ENST00000588746,;							MODERATE	280/1980	R94S	TRM1_HUMAN			Transcript		benign(0.256)	.	ENSP00000350352		CCDS12293.1			1	
KRT6B	0	LGGM	GRCh37	12	52845816	52845816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	8	3	.	.	ENST00000252252.3:c.47G>T	p.Arg16Leu	p.R16L	ENST00000252252	NM_005555.3	16	cGg/cTg	0	1	1	UPI000013CD50	0	NA	ENST00000252252		ENSG00000185479	6444		11	2.14		HGNC	p.R16L		KRT6B		SNV			1				ENST00000252252	protein_coding	getma.org/?cm=var&var=hg19,12,52845816,C,A&fts=all		Low_complexity_(Seg):seg		R/L		A	medium	95/2282		getma.org/?cm=msa&ty=f&p=K2C6B_HUMAN&rb=1&re=161&var=R16L	tolerated(0.05)				YES	KRT6B,missense_variant,p.Arg16Leu,ENST00000252252,NM_005555.3;							MODERATE	47/1695	R16L	K2C6B_HUMAN			Transcript		unknown(0)	.	ENSP00000252252		CCDS8828.1			1	
AEBP1	0	LGGM	GRCh37	7	44151812	44151812	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	33	3	.	.	ENST00000223357.3:c.2109G>T	p.Pro703=	p.P703=	ENST00000223357	NM_001129.4	703	ccG/ccT	0	1	1	UPI00000746E2	0		ENST00000223357		ENSG00000106624	303		36			HGNC	p.P703P		AEBP1		SNV							ENST00000223357	protein_coding			hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		P		T		2414/4081				B4DJB3_HUMAN			YES	AEBP1,synonymous_variant,p.=,ENST00000223357,NM_001129.4;AEBP1,synonymous_variant,p.=,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000436844,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;AEBP1,downstream_gene_variant,,ENST00000449162,;POLD2,downstream_gene_variant,,ENST00000436400,;MIR4649,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;AEBP1,3_prime_UTR_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000463464,;POLD2,downstream_gene_variant,,ENST00000470867,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000489883,;							LOW	2109/3477		AEBP1_HUMAN			Transcript			.	ENSP00000223357		CCDS5476.1			1	
SCN5A	0	LGGM	GRCh37	3	38627528	38627528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	47	3	.	.	ENST00000413689.1:c.2441G>T	p.Arg814Leu	p.R814L	ENST00000413689	NM_001160160.1	814	cGg/cTg	0	1		UPI00001D6F27	0	getma.org/pdb.php?prot=SCN5A_HUMAN&from=751&to=938&var=R814L	ENST00000333535		ENSG00000183873	10593		50	3.875		HGNC	p.R814L		SCN5A		SNV			1				ENST00000449557	protein_coding	getma.org/?cm=var&var=hg19,3,38627528,C,A&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324		R/L		A	high	2591/8456		getma.org/?cm=msa&ty=f&p=SCN5A_HUMAN&rb=751&re=938&var=R814L	deleterious(0.01)	Q8WWN5_HUMAN,Q8WTQ6_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN				SCN5A,missense_variant,p.Arg814Leu,ENST00000413689,NM_001160160.1,NM_001099404.1;SCN5A,missense_variant,p.Arg814Leu,ENST00000443581,NM_000335.4,NM_198056.2;SCN5A,missense_variant,p.Arg814Leu,ENST00000333535,;SCN5A,missense_variant,p.Arg814Leu,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Arg814Leu,ENST00000423572,;SCN5A,missense_variant,p.Arg814Leu,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Arg814Leu,ENST00000414099,;SCN5A,missense_variant,p.Arg814Leu,ENST00000455624,;SCN5A,missense_variant,p.Arg814Leu,ENST00000450102,;SCN5A,missense_variant,p.Arg814Leu,ENST00000449557,;							MODERATE	2441/6051	R814L	SCN5A_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000328968		CCDS46796.1			1	
DDX11	0	LGGM	GRCh37	12	31245825	31245825	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	3	.	.	ENST00000407793.2:c.1288G>T	p.Gly430Trp	p.G430W	ENST00000407793	NM_030653.3	430	Ggg/Tgg	0	1		UPI000006F88F	0	NA	ENST00000545668		ENSG00000013573	2736		43	1.83		HGNC	p.G430W		DDX11		SNV			1				ENST00000542838	protein_coding	getma.org/?cm=var&var=hg19,12,31245825,G,T&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488		G/W		T	low	1368/3751		getma.org/?cm=msa&ty=f&p=DDX12_HUMAN&rb=28&re=464&var=G449W	deleterious(0.01)	F5GXJ8_HUMAN				DDX11,missense_variant,p.Gly430Trp,ENST00000407793,NM_030653.3,NM_152438.1;DDX11,missense_variant,p.Gly430Trp,ENST00000545668,NM_001257144.1;DDX11,missense_variant,p.Gly430Trp,ENST00000350437,NM_004399.2;DDX11,missense_variant,p.Gly404Trp,ENST00000228264,NM_001257145.1;DDX11,missense_variant,p.Gly430Trp,ENST00000542838,;DDX11,splice_region_variant,,ENST00000251758,;DDX11,downstream_gene_variant,,ENST00000438391,;DDX11,downstream_gene_variant,,ENST00000415475,;DDX11,downstream_gene_variant,,ENST00000544652,;DDX11,splice_region_variant,,ENST00000539673,;DDX11,downstream_gene_variant,,ENST00000545717,;DDX11,splice_region_variant,,ENST00000435753,;DDX11,splice_region_variant,,ENST00000536265,;DDX11,splice_region_variant,,ENST00000539049,;DDX11,splice_region_variant,,ENST00000543026,;DDX11,splice_region_variant,,ENST00000542129,;DDX11,splice_region_variant,,ENST00000536580,;DDX11,intron_variant,,ENST00000538345,;DDX11,downstream_gene_variant,,ENST00000535158,;DDX11,downstream_gene_variant,,ENST00000540935,;DDX11,downstream_gene_variant,,ENST00000542244,;DDX11,downstream_gene_variant,,ENST00000542242,;DDX11,upstream_gene_variant,,ENST00000543511,;DDX11,upstream_gene_variant,,ENST00000539699,;DDX11,upstream_gene_variant,,ENST00000542661,;							MODERATE	1288/2913	G449W	DDX11_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000440402		CCDS44856.1			1	
CCDC8	0	LGGM	GRCh37	19	46915978	46915978	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	20	3	.	.	ENST00000307522.3:c.90C>A	p.Pro30=	p.P30=	ENST00000307522	NM_032040.4	30	ccC/ccA	0	1	1	UPI00000730F2	0		ENST00000307522		ENSG00000169515	25367		23			HGNC	p.P30P	rs751905097	CCDC8	6.06E-05	SNV			1				ENST00000307522	protein_coding			Pfam_domain:PF14893,hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2		P		T		864/3213							YES	CCDC8,synonymous_variant,p.=,ENST00000307522,NM_032040.4;							LOW	90/1617		CCDC8_HUMAN			Transcript			.	ENSP00000303158	8.24E-06	CCDS12685.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102510983	102510983	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	16	3	.	.	ENST00000360184.4:c.12954C>A	p.Pro4318=	p.P4318=	ENST00000360184	NM_001376.4	4318	ccC/ccA	0	1	1	UPI00001B515A	0		ENST00000360184		ENSG00000197102	2961		19			HGNC	p.P4318P		DYNC1H1		SNV			1				ENST00000360184	protein_coding			hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF03028		P		A		13118/14333				Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,synonymous_variant,p.=,ENST00000360184,NM_001376.4;RP11-1017G21.4,intron_variant,,ENST00000557242,;RP11-1017G21.4,intron_variant,,ENST00000553701,;RP11-1017G21.4,upstream_gene_variant,,ENST00000557551,;DYNC1H1,downstream_gene_variant,,ENST00000555102,;DYNC1H1,upstream_gene_variant,,ENST00000555062,;DYNC1H1,downstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556229,;DYNC1H1,downstream_gene_variant,,ENST00000556499,;							LOW	12954/13941		DYHC1_HUMAN			Transcript			.	ENSP00000348965		CCDS9966.1			1	
DLG5	0	LGGM	GRCh37	10	79581535	79581535	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	2	3	.	.	ENST00000372391.2:c.2707C>G	p.Arg903Gly	p.R903G	ENST00000372391	NM_004747.3	903	Cgt/Ggt	0	1	1	UPI0000470041	0	NA	ENST00000372391		ENSG00000151208	2904		5	1.61		HGNC	p.R903G		DLG5		SNV							ENST00000372391	protein_coding	getma.org/?cm=var&var=hg19,10,79581535,G,C&fts=all		hmmpanther:PTHR13865		R/G		C	low	2713/7415		getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=848&re=983&var=R903G	tolerated(0.36)				YES	DLG5,missense_variant,p.Arg903Gly,ENST00000372391,NM_004747.3;DLG5,intron_variant,,ENST00000372388,;DLG5,intron_variant,,ENST00000424842,;DLG5,upstream_gene_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,;							MODERATE	2707/5760	R903G	DLG5_HUMAN			Transcript		benign(0.056)	.	ENSP00000361467		CCDS7353.2			1	
PISD	0	LGGM	GRCh37	22	32015715	32015715	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	15	3	.	.	ENST00000382151.2:c.1011G>T	p.Leu337=	p.L337=	ENST00000382151		337	ctG/ctT	0	1		UPI0000207594	0		ENST00000439502		ENSG00000241878	8999		18			HGNC	p.L337L		PISD		SNV							ENST00000266095	protein_coding			hmmpanther:PTHR10067,TIGRFAM_domain:TIGR00163,Pfam_domain:PF02666		L		A		1337/1963								PISD,synonymous_variant,p.=,ENST00000382151,;PISD,synonymous_variant,p.=,ENST00000266095,NM_014338.3;PISD,synonymous_variant,p.=,ENST00000439502,;PISD,synonymous_variant,p.=,ENST00000336566,;PISD,synonymous_variant,p.=,ENST00000435900,;PISD,3_prime_UTR_variant,,ENST00000397500,;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,;SFI1,downstream_gene_variant,,ENST00000417682,;PISD,downstream_gene_variant,,ENST00000422020,;PISD,downstream_gene_variant,,ENST00000442379,;PISD,downstream_gene_variant,,ENST00000429683,;PISD,downstream_gene_variant,,ENST00000431201,;PISD,downstream_gene_variant,,ENST00000478893,;SFI1,downstream_gene_variant,,ENST00000474741,;PISD,downstream_gene_variant,,ENST00000491342,;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,;							LOW	1113/1230		PISD_HUMAN			Transcript			.	ENSP00000391739					1	
DMWD	0	LGGM	GRCh37	19	46295602	46295602	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	6	3	.	.	ENST00000270223.6:c.413C>A	p.Pro138Gln	p.P138Q	ENST00000270223	NM_004943.1	138	cCa/cAa	0	1	1	UPI000040C0B4	0	NA	ENST00000270223		ENSG00000185800	2936		9	0.345		HGNC	p.P138Q		DMWD		SNV							ENST00000270223	protein_coding	getma.org/?cm=var&var=hg19,19,46295602,G,T&fts=all		hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF15		P/Q		T	neutral	459/3305		getma.org/?cm=msa&ty=f&p=DMWD_HUMAN&rb=1&re=200&var=P138Q	tolerated(0.13)				YES	DMWD,missense_variant,p.Pro138Gln,ENST00000270223,NM_004943.1;DMWD,missense_variant,p.Pro138Gln,ENST00000377735,;DMWD,missense_variant,p.Pro32Gln,ENST00000598237,;RSPH6A,downstream_gene_variant,,ENST00000221538,NM_030785.3;RSPH6A,downstream_gene_variant,,ENST00000597055,;RSPH6A,downstream_gene_variant,,ENST00000600188,;DMWD,upstream_gene_variant,,ENST00000597053,;DMWD,non_coding_transcript_exon_variant,,ENST00000601370,;DMWD,upstream_gene_variant,,ENST00000602469,;							MODERATE	413/2025	P138Q	DMWD_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000270223		CCDS33054.1			1	
EIF2S1	0	LGGM	GRCh37	14	67850103	67850103	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	27	3	.	.	ENST00000256383.4:c.894C>A	p.Ala298=	p.A298=	ENST00000256383	NM_004094.4	298	gcC/gcA	0	1	1	UPI000000CC43	0		ENST00000256383		ENSG00000134001	3265		30			HGNC	p.A298A	rs150270187	EIF2S1		SNV	T:0.0002						ENST00000256383	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10602:SF0,hmmpanther:PTHR10602,Gene3D:1q8kA03,Superfamily_domains:SSF110993		A	T:0.0012	A		1355/4485	1.51E-05			Q53XC0_HUMAN,G3V4T5_HUMAN			YES	EIF2S1,synonymous_variant,p.=,ENST00000256383,NM_004094.4;EIF2S1,synonymous_variant,p.=,ENST00000466499,;PLEK2,downstream_gene_variant,,ENST00000216446,NM_016445.1;EIF2S1,downstream_gene_variant,,ENST00000557310,;EIF2S1,downstream_gene_variant,,ENST00000555876,;PLEK2,downstream_gene_variant,,ENST00000556532,;PLEK2,downstream_gene_variant,,ENST00000554395,;EIF2S1,non_coding_transcript_exon_variant,,ENST00000554332,;PLEK2,downstream_gene_variant,,ENST00000553387,;PLEK2,downstream_gene_variant,,ENST00000555803,;							LOW	894/948		IF2A_HUMAN			Transcript			.	ENSP00000256383	8.24E-06	CCDS9781.1			1	
SDK1	0	LGGM	GRCh37	7	4169678	4169678	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	20	3	.	.	ENST00000404826.2:c.4078G>T	p.Gly1360Trp	p.G1360W	ENST00000404826	NM_152744.3	1360	Ggg/Tgg	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=1278&to=1365&var=G1360W	ENST00000404826		ENSG00000146555	19307		23	4.65		HGNC	p.G1360W		SDK1		SNV							ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,4169678,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/W		T	high	4217/10397		getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=1278&re=1365&var=G1360W	deleterious(0)				YES	SDK1,missense_variant,p.Gly1360Trp,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Gly1360Trp,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;							MODERATE	4078/6642	G1360W	SDK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385899		CCDS34590.1			1	
PIK3C2B	0	LGGM	GRCh37	1	204415190	204415190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	3	.	.	ENST00000367187.3:c.2572G>T	p.Ala858Ser	p.A858S	ENST00000367187	NM_002646.3	858	Gcc/Tcc	0	1	1	UPI00002056D1	0	getma.org/pdb.php?prot=P3C2B_HUMAN&from=809&to=991&var=A858S	ENST00000367187		ENSG00000133056	8972		41	0.82		HGNC	p.A858S		PIK3C2B		SNV							ENST00000367187	protein_coding	getma.org/?cm=var&var=hg19,1,204415190,C,A&fts=all		Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30,Low_complexity_(Seg):seg,SMART_domains:SM00145,Superfamily_domains:SSF48371		A/S		A	low	3129/7686		getma.org/?cm=msa&ty=f&p=P3C2B_HUMAN&rb=809&re=991&var=A858S	tolerated(0.07)	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN			YES	PIK3C2B,missense_variant,p.Ala858Ser,ENST00000367187,NM_002646.3;PIK3C2B,intron_variant,,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000479079,;							MODERATE	2572/4905	A858S	P3C2B_HUMAN			Transcript		possibly_damaging(0.674)	.	ENSP00000356155		CCDS1446.1			1	
MCM3	0	LGGM	GRCh37	6	52143548	52143548	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	31	3	.	.	ENST00000596288.1:c.1006C>A	p.Arg336=	p.R336=	ENST00000596288	NM_002388.4	336	Cga/Aga	0	1		UPI000012ED97	0		ENST00000229854		ENSG00000112118	6945		34			HGNC	p.R336R		MCM3		SNV							ENST00000596288	protein_coding			Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,SMART_domains:SM00350		R		T		948/3083				Q8NHX6_HUMAN				MCM3,synonymous_variant,p.=,ENST00000596288,NM_002388.4;MCM3,synonymous_variant,p.=,ENST00000229854,;MCM3,synonymous_variant,p.=,ENST00000419835,NM_001270472.1;MCM3,upstream_gene_variant,,ENST00000421471,;MCM3,non_coding_transcript_exon_variant,,ENST00000476448,;MCM3,downstream_gene_variant,,ENST00000596983,;							LOW	871/2427		MCM3_HUMAN			Transcript			.	ENSP00000229854					1	
PABPN1	0	LGGM	GRCh37	14	23792649	23792649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	3	.	.	ENST00000216727.4:c.598C>A	p.Arg200Ser	p.R200S	ENST00000216727	NM_004643.3	200	Cgt/Agt	0	1	1	UPI000006F6E7	0	getma.org/pdb.php?prot=PABP2_HUMAN&from=174&to=243&var=R200S	ENST00000216727		ENSG00000100836	8565		39	1.295		HGNC	p.R200S		PABPN1		SNV			1				ENST00000216727	protein_coding	getma.org/?cm=var&var=hg19,14,23792649,C,A&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00360,Gene3D:3.30.70.330,Pfam_domain:PF00076,hmmpanther:PTHR23365,hmmpanther:PTHR23365:SF1,PROSITE_profiles:PS50102		R/S		A	low	779/2001		getma.org/?cm=msa&ty=f&p=PABP2_HUMAN&rb=174&re=243&var=R200S	deleterious(0)	G3V4T2_HUMAN			YES	PABPN1,missense_variant,p.Arg200Ser,ENST00000397276,;PABPN1,missense_variant,p.Arg200Ser,ENST00000216727,NM_004643.3;BCL2L2-PABPN1,missense_variant,p.Arg227Ser,ENST00000557008,;BCL2L2-PABPN1,missense_variant,p.Arg227Ser,ENST00000553781,NM_001199864.1;PABPN1,missense_variant,p.Arg72Ser,ENST00000556821,;PABPN1,missense_variant,p.Arg72Ser,ENST00000557702,;BCL2L2-PABPN1,downstream_gene_variant,,ENST00000556100,;PABPN1,upstream_gene_variant,,ENST00000555295,;AL049829.1,upstream_gene_variant,,ENST00000594872,;PABPN1,non_coding_transcript_exon_variant,,ENST00000556809,;PABPN1,non_coding_transcript_exon_variant,,ENST00000553960,;PABPN1,non_coding_transcript_exon_variant,,ENST00000554062,;							MODERATE	598/921	R200S	PABP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000216727		CCDS9592.1			1	
LENG1	0	LGGM	GRCh37	19	54660654	54660654	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	20	3	.	.	ENST00000222224.3:c.422C>A	p.Pro141Gln	p.P141Q	ENST00000222224	NM_024316.1	141	cCg/cAg	0	1	1	UPI0000073A30	0	NA	ENST00000222224		ENSG00000105617	15502		23	-0.315		HGNC	p.P141Q		LENG1		SNV							ENST00000222224	protein_coding	getma.org/?cm=var&var=hg19,19,54660654,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22093		P/Q		T	neutral	609/1542		getma.org/?cm=msa&ty=f&p=LENG1_HUMAN&rb=1&re=261&var=P141Q	tolerated(0.51)				YES	LENG1,missense_variant,p.Pro141Gln,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,;							MODERATE	422/795	P141Q	LENG1_HUMAN			Transcript		benign(0.012)	.	ENSP00000222224		CCDS12881.1			1	
LILRB3	0	LGGM	GRCh37	19	54721302	54721302	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	19	3	.	.	ENST00000245620.9:c.1638G>T	p.Pro546=	p.P546=	ENST00000245620		546	ccG/ccT	0	1	1	UPI0000E04BFA	0		ENST00000245620		ENSG00000204577	6607		22			HGNC	p.P545P		LILRB3		SNV							ENST00000391750	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32		P		A		1640/2066				C9JWL8_HUMAN			YES	LILRB3,synonymous_variant,p.=,ENST00000391750,;LILRB3,synonymous_variant,p.=,ENST00000424807,NM_006864.2,NM_001081450.1;LILRB3,synonymous_variant,p.=,ENST00000346401,;LILRA6,synonymous_variant,p.=,ENST00000440558,;LILRB3,synonymous_variant,p.=,ENST00000407860,;LILRB3,synonymous_variant,p.=,ENST00000245620,;LILRA6,synonymous_variant,p.=,ENST00000419410,;LILRA6,synonymous_variant,p.=,ENST00000270464,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRB3,downstream_gene_variant,,ENST00000445347,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000460208,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,downstream_gene_variant,,ENST00000436504,;							LOW	1638/1899		LIRB3_HUMAN			Transcript			.	ENSP00000245620		CCDS46175.1			1	
NFE2L2	0	LGGM	GRCh37	2	178098956	178098956	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	3	.	.	ENST00000397062.3:c.89T>C	p.Leu30Pro	p.L30P	ENST00000397062	NM_006164.4	30	cTt/cCt	0	1	1	UPI000012FFD0	0	NA	ENST00000397062		ENSG00000116044	7782		31	2.85		HGNC	p.L29P		NFE2L2		SNV							ENST00000586532	protein_coding	getma.org/?cm=var&var=hg19,2,178098956,A,G&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3		L/P		G	medium	644/2853		getma.org/?cm=msa&ty=f&p=NF2L2_HUMAN&rb=1&re=200&var=L30P	deleterious(0)	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN			YES	NFE2L2,missense_variant,p.Leu30Pro,ENST00000397062,NM_006164.4;NFE2L2,missense_variant,p.Leu14Pro,ENST00000464747,;NFE2L2,missense_variant,p.Leu14Pro,ENST00000397063,NM_001145412.2,NM_001145413.2;NFE2L2,missense_variant,p.Leu14Pro,ENST00000446151,;NFE2L2,missense_variant,p.Leu14Pro,ENST00000423513,;NFE2L2,missense_variant,p.Leu14Pro,ENST00000421929,;NFE2L2,missense_variant,p.Leu14Pro,ENST00000448782,;NFE2L2,missense_variant,p.Leu14Pro,ENST00000449627,;NFE2L2,missense_variant,p.Leu29Pro,ENST00000586532,;NFE2L2,missense_variant,p.Leu14Pro,ENST00000588123,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;							MODERATE	89/1818	L30P	NF2L2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380252		CCDS42782.1			1	
SPEN	0	LGGM	GRCh37	1	16264490	16264490	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	12	3	.	.	ENST00000375759.3:c.10693C>A	p.Arg3565=	p.R3565=	ENST00000375759	NM_015001.2	3565	Cga/Aga	0	1	1	UPI000006FF0C	0		ENST00000375759		ENSG00000065526	17575		15			HGNC	p.R3565R		SPEN		SNV							ENST00000375759	protein_coding			PROSITE_profiles:PS50917,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189,Pfam_domain:PF07744,Gene3D:2.40.290.10,Superfamily_domains:SSF100939		R		A		10897/12232							YES	SPEN,synonymous_variant,p.=,ENST00000375759,NM_015001.2;ZBTB17,downstream_gene_variant,,ENST00000375733,NM_001287603.1;ZBTB17,downstream_gene_variant,,ENST00000375743,NM_003443.2,NM_001287604.1;ZBTB17,downstream_gene_variant,,ENST00000537142,NM_001242884.1;ZBTB17,downstream_gene_variant,,ENST00000440560,;ZBTB17,downstream_gene_variant,,ENST00000444358,;ZBTB17,downstream_gene_variant,,ENST00000462525,;SPEN,upstream_gene_variant,,ENST00000487496,;ZBTB17,downstream_gene_variant,,ENST00000488008,;							LOW	10693/10995		MINT_HUMAN			Transcript			.	ENSP00000364912		CCDS164.1			1	
PXN	0	LGGM	GRCh37	12	120653441	120653441	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	11	3	.	.	ENST00000267257.7:c.832-221G>T		*278*	ENST00000267257	NM_001243756.1			0	1		UPI0000E00CD4	0		ENST00000228307		ENSG00000089159	9718		14			HGNC	p.A283A		PXN		SNV							ENST00000536957	protein_coding			hmmpanther:PTHR24216:SF11,hmmpanther:PTHR24216		A		A		997/3785				F8W1E0_HUMAN,F8W0K8_HUMAN,F8W0G0_HUMAN				PXN,synonymous_variant,p.=,ENST00000397506,;PXN,synonymous_variant,p.=,ENST00000536957,;PXN,synonymous_variant,p.=,ENST00000228307,NM_001080855.2;PXN,synonymous_variant,p.=,ENST00000550795,;PXN,intron_variant,,ENST00000267257,NM_001243756.1;PXN,intron_variant,,ENST00000458477,NM_025157.4;PXN,intron_variant,,ENST00000424649,NM_002859.3;PXN-AS1,downstream_gene_variant,,ENST00000535200,;PXN-AS1,downstream_gene_variant,,ENST00000542265,;PXN-AS1,downstream_gene_variant,,ENST00000539446,;PXN,intron_variant,,ENST00000538144,;PXN,non_coding_transcript_exon_variant,,ENST00000323871,;							LOW	855/1776		PAXI_HUMAN			Transcript			.	ENSP00000228307		CCDS44997.1			1	
PKDCC	0	LGGM	GRCh37	2	42284753	42284753	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	18	3	.	.	ENST00000294964.5:c.1407G>T	p.Leu469=	p.L469=	ENST00000294964	NM_138370.2	469	ctG/ctT	0	1	1	UPI0000EE25C6	0		ENST00000294964		ENSG00000162878	25123		21			HGNC	p.L469L		PKDCC		SNV							ENST00000294964	protein_coding			PROSITE_profiles:PS50011		L		T		1587/2502							YES	PKDCC,synonymous_variant,p.=,ENST00000294964,NM_138370.2;PKDCC,non_coding_transcript_exon_variant,,ENST00000480099,;PKDCC,3_prime_UTR_variant,,ENST00000401498,;PKDCC,non_coding_transcript_exon_variant,,ENST00000490302,;PKDCC,non_coding_transcript_exon_variant,,ENST00000470578,;PKDCC,downstream_gene_variant,,ENST00000475241,;PKDCC,downstream_gene_variant,,ENST00000475868,;PKDCC,downstream_gene_variant,,ENST00000492861,;PKDCC,downstream_gene_variant,,ENST00000485578,;							LOW	1407/1482		PKDCC_HUMAN			Transcript			.	ENSP00000294964		CCDS33186.2			1	
FAM211A	0	LGGM	GRCh37	17	16346995	16346995	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	7	3	.	.	ENST00000470794.1:c.942G>T	p.Gly314=	p.G314=	ENST00000470794	NM_001113567.2	314	ggG/ggT	0	1	1	UPI0000200A49	0		ENST00000470794		ENSG00000181350	32403		10			HGNC	p.G314G		FAM211A		SNV							ENST00000470794	protein_coding					G		A		970/1390							YES	FAM211A,synonymous_variant,p.=,ENST00000470794,NM_001113567.2;FAM211A,3_prime_UTR_variant,,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,,ENST00000584177,;FAM211A-AS1,intron_variant,,ENST00000581718,;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,;							LOW	942/1035		F211A_HUMAN			Transcript			.	ENSP00000419502		CCDS45620.1			1	
FAM47B	0	LGGM	GRCh37	X	34961838	34961838	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	35	3	.	.	ENST00000329357.5:c.890C>A	p.Pro297Gln	p.P297Q	ENST00000329357	NM_152631.2	297	cCg/cAg	0	1	1	UPI000013F47B	0	NA	ENST00000329357		ENSG00000189132	26659		38	1.83		HGNC	p.P297Q		FAM47B		SNV							ENST00000329357	protein_coding	getma.org/?cm=var&var=hg19,X,34961838,C,A&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Pfam_domain:PF14642		P/Q		A	low	926/2122		getma.org/?cm=msa&ty=f&p=FA47B_HUMAN&rb=1&re=643&var=P297Q	tolerated(0.29)				YES	FAM47B,missense_variant,p.Pro297Gln,ENST00000329357,NM_152631.2;							MODERATE	890/1938	P297Q	FA47B_HUMAN			Transcript		benign(0.299)	.	ENSP00000328307		CCDS14236.1			1	
GGTLC2	0	LGGM	GRCh37	22	22985293	22985293	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	16	3	.	.	ENST00000402027.1:n.1652C>A		*551*	ENST00000402027				0	1	1	UPI00004210AD	0		ENST00000480559		ENSG00000100121	18596		19		3523	HGNC	p.R422R		GGTLC2		SNV							ENST00000402027	protein_coding							T		-/657							YES	GGTLC2,upstream_gene_variant,,ENST00000448514,;GGTLC2,upstream_gene_variant,,ENST00000480559,NM_199127.2;POM121L1P,non_coding_transcript_exon_variant,,ENST00000402027,;GGTLC2,upstream_gene_variant,,ENST00000417145,;POM121L1P,non_coding_transcript_exon_variant,,ENST00000605258,;							MODIFIER	-/657		GGTL2_HUMAN			Transcript			.	ENSP00000419751		CCDS13802.2			1	
PCED1A	0	LGGM	GRCh37	20	2819055	2819055	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	18	3	.	.	ENST00000360652.2:c.664G>T	p.Gly222Trp	p.G222W	ENST00000360652	NM_022760.4	222	Ggg/Tgg	0	1	1	UPI00001285EE	0	NA	ENST00000360652		ENSG00000132635	16212		21	0.345		HGNC	p.G222W		PCED1A		SNV							ENST00000360652	protein_coding	getma.org/?cm=var&var=hg19,20,2819055,C,A&fts=all		Gene3D:3.40.50.1110,Pfam_domain:PF13839,hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF3,Superfamily_domains:SSF52266		G/W		A	neutral	1167/2016		getma.org/?cm=msa&ty=f&p=F113A_HUMAN&rb=21&re=268&var=G222W	deleterious(0.02)				YES	PCED1A,missense_variant,p.Gly222Trp,ENST00000360652,NM_022760.4;PCED1A,missense_variant,p.Gly171Trp,ENST00000356872,NM_001271168.1;PCED1A,missense_variant,p.Gly222Trp,ENST00000439542,;PCED1A,missense_variant,p.Gly171Trp,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,;							MODERATE	664/1365	G222W	PED1A_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000353868		CCDS13035.1			1	
RNF26	0	LGGM	GRCh37	11	119207068	119207068	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	3	.	.	ENST00000311413.4:c.1236C>A	p.Pro412=	p.P412=	ENST00000311413	NM_032015.4	412	ccC/ccA	0	1	1	UPI0000001BF4	0		ENST00000311413		ENSG00000173456	14646		43			HGNC	p.P412P		RNF26		SNV							ENST00000311413	protein_coding			PROSITE_profiles:PS50089,hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696,Pfam_domain:PF13920,Gene3D:3.30.40.10,Superfamily_domains:SSF57850		P		A		1832/2787							YES	RNF26,synonymous_variant,p.=,ENST00000311413,NM_032015.4;C1QTNF5,downstream_gene_variant,,ENST00000445041,NM_031433.3,NM_015645.4;MFRP,downstream_gene_variant,,ENST00000555262,;MFRP,downstream_gene_variant,,ENST00000449574,;C1QTNF5,downstream_gene_variant,,ENST00000528368,NM_001278431.1;RP11-334E6.10,non_coding_transcript_exon_variant,,ENST00000501918,;C1QTNF5,downstream_gene_variant,,ENST00000525657,;MFRP,downstream_gene_variant,,ENST00000530681,;							LOW	1236/1302		RNF26_HUMAN			Transcript			.	ENSP00000312439		CCDS8419.1			1	
SLC22A5	0	LGGM	GRCh37	5	131728268	131728268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	27	3	.	.	ENST00000245407.3:c.1411C>A	p.Arg471Ser	p.R471S	ENST00000245407	NM_003060.3	471	Cgc/Agc	0	1	1	UPI0000130BB6	0	NA	ENST00000245407		ENSG00000197375	10969		30	3.315		HGNC	p.R471S		SLC22A5		SNV			1				ENST00000245407	protein_coding	getma.org/?cm=var&var=hg19,5,131728268,C,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5,PROSITE_profiles:PS50850		R/S		A	medium	1632/3237		getma.org/?cm=msa&ty=f&p=S22A5_HUMAN&rb=91&re=523&var=R471S	deleterious(0)				YES	SLC22A5,missense_variant,p.Arg471Ser,ENST00000245407,NM_003060.3;SLC22A5,missense_variant,p.Arg495Ser,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,;							MODERATE	1411/1674	R471S	S22A5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000245407		CCDS4154.1			1	
IGLV9-49	0	LGGM	GRCh37	22	22698044	22698044	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	5	3	.	.	ENST00000427632.2:c.332A>G	p.His111Arg	p.H111R	ENST00000427632		111	cAc/cGc	0	1	1	UPI0000115528	0		ENST00000427632		ENSG00000223350	5933		8			HGNC	p.H111R		IGLV9-49		SNV							ENST00000427632	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF9,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		H/R		G		369/409			deleterious(0)	Q8TBD0_HUMAN,A2MYC8_HUMAN			YES	IGLV9-49,missense_variant,p.His111Arg,ENST00000427632,;LL22NC03-80A10.11,downstream_gene_variant,,ENST00000436538,;LL22NC03-75A1.9,upstream_gene_variant,,ENST00000440829,;							MODERATE	332/372					Transcript		benign(0.077)	.	ENSP00000414456					1	
OS9	0	LGGM	GRCh37	12	58109963	58109963	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	11	3	.	.	ENST00000315970.7:c.879C>A	p.Pro293=	p.P293=	ENST00000315970	NM_006812.3	293	ccC/ccA	0	1	1	UPI0000130EAC	0		ENST00000315970		ENSG00000135506	16994		14			HGNC	p.P234P		OS9		SNV							ENST00000439210	protein_coding			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1		P		A		920/2691				Q9BR60_HUMAN			YES	OS9,synonymous_variant,p.=,ENST00000315970,NM_006812.3,NM_001017958.2;OS9,synonymous_variant,p.=,ENST00000257966,NM_001261420.1,NM_001017956.2;OS9,synonymous_variant,p.=,ENST00000389142,NM_001017957.2;OS9,synonymous_variant,p.=,ENST00000435406,NM_001261422.1;OS9,synonymous_variant,p.=,ENST00000551035,NM_001261421.1;OS9,synonymous_variant,p.=,ENST00000552285,;OS9,synonymous_variant,p.=,ENST00000389146,;OS9,synonymous_variant,p.=,ENST00000439210,NM_001261423.1;OS9,intron_variant,,ENST00000413095,;OS9,intron_variant,,ENST00000547079,;OS9,downstream_gene_variant,,ENST00000550372,;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,,ENST00000550438,;OS9,non_coding_transcript_exon_variant,,ENST00000550699,;OS9,upstream_gene_variant,,ENST00000546916,;OS9,downstream_gene_variant,,ENST00000553208,;OS9,upstream_gene_variant,,ENST00000550202,;							LOW	879/2004		OS9_HUMAN			Transcript			.	ENSP00000318165		CCDS31843.1			1	
USP12	0	LGGM	GRCh37	13	27649430	27649430	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	3	.	.	ENST00000282344.6:c.830G>T	p.Arg277Leu	p.R277L	ENST00000282344	NM_182488.3	277	cGg/cTg	0	1	1	UPI0000198DEE	0	getma.org/pdb.php?prot=UBP12_HUMAN&from=36&to=366&var=R277L	ENST00000282344		ENSG00000152484	20485		48	2.755		HGNC	p.R277L		USP12		SNV							ENST00000282344	protein_coding	getma.org/?cm=var&var=hg19,13,27649430,C,A&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24619,hmmpanther:PTHR24619:SF120,Superfamily_domains:SSF54001		R/L		A	medium	1087/4497		getma.org/?cm=msa&ty=f&p=UBP12_HUMAN&rb=36&re=366&var=R277L	deleterious(0)				YES	USP12,missense_variant,p.Arg277Leu,ENST00000282344,NM_182488.3;							MODERATE	830/1113	R277L	UBP12_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000282344		CCDS31952.1			1	
AMOTL1	0	LGGM	GRCh37	11	94532627	94532627	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	26	3	.	.	ENST00000433060.2:c.271G>T	p.Glu91Ter	p.E91*	ENST00000433060	NM_130847.2	91	Gag/Tag	0	1	1	UPI00000742C2	0	NA	ENST00000433060		ENSG00000166025	17811		29	0		HGNC	p.E91X		AMOTL1		SNV							ENST00000433060	protein_coding	getma.org/?cm=var&var=hg19,11,94532627,G,T&fts=all		hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12		E/*		T	NA	412/8970		NA					YES	AMOTL1,stop_gained,p.Glu91Ter,ENST00000433060,NM_130847.2;AMOTL1,stop_gained,p.Glu41Ter,ENST00000317829,;AMOTL1,stop_gained,p.Glu91Ter,ENST00000317837,;AMOTL1,stop_gained,p.Glu120Ter,ENST00000299004,;							HIGH	271/2871	E91*	AMOL1_HUMAN			Transcript			.	ENSP00000387739		CCDS44712.1			1	
STARD5	0	LGGM	GRCh37	15	81614779	81614779	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	3	.	.	ENST00000302824.6:c.252C>A	p.Thr84=	p.T84=	ENST00000302824	NM_181900.2	84	acC/acA	0	1	1	UPI0000136136	0		ENST00000302824		ENSG00000172345	18065		35			HGNC	p.T84T		STARD5		SNV							ENST00000302824	protein_coding			PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF44,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961		T		T		278/4871							YES	STARD5,synonymous_variant,p.=,ENST00000302824,NM_181900.2;RP11-761I4.3,upstream_gene_variant,,ENST00000559781,;RP11-761I4.3,upstream_gene_variant,,ENST00000560973,;STARD5,non_coding_transcript_exon_variant,,ENST00000559913,;STARD5,3_prime_UTR_variant,,ENST00000325346,;STARD5,3_prime_UTR_variant,,ENST00000560156,;STARD5,non_coding_transcript_exon_variant,,ENST00000560723,;							LOW	252/642		STAR5_HUMAN			Transcript			.	ENSP00000304032		CCDS10318.1			1	
CEACAM21	0	LGGM	GRCh37	19	42090729	42090729	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	10	3	.	.	ENST00000401445.2:c.730G>T	p.Gly244Trp	p.G244W	ENST00000401445		244	Ggg/Tgg	0	1	1	UPI0000D617B1	0	NA	ENST00000401445		ENSG00000007129	28834		13	3.01		HGNC	p.G116W		CEACAM21		SNV							ENST00000407170	protein_coding	getma.org/?cm=var&var=hg19,19,42090729,G,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		G/W		T	medium	756/1008		getma.org/?cm=msa&ty=f&p=CEA21_HUMAN&rb=233&re=293&var=G244W	deleterious(0)				YES	CEACAM21,missense_variant,p.Gly116Trp,ENST00000407170,NM_001288773.1;CEACAM21,missense_variant,p.Gly243Trp,ENST00000187608,NM_001098506.1,NM_033543.3;CEACAM21,missense_variant,p.Gly244Trp,ENST00000401445,;CEACAM21,non_coding_transcript_exon_variant,,ENST00000482870,;CEACAM21,3_prime_UTR_variant,,ENST00000457737,;							MODERATE	730/882	G244W	CEA21_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000385739		CCDS46086.1			1	
NEURL4	0	LGGM	GRCh37	17	7220820	7220820	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	3	.	.	ENST00000399464.2:c.4278C>A	p.Ala1426=	p.A1426=	ENST00000399464	NM_032442.2	1426	gcC/gcA	0	1	1	UPI000020081C	0		ENST00000399464		ENSG00000215041	34410		35			HGNC	p.A1426A		NEURL4		SNV							ENST00000399464	protein_coding			hmmpanther:PTHR12429,hmmpanther:PTHR12429:SF2		A		T		4294/5200							YES	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,;GPS2,upstream_gene_variant,,ENST00000380728,;GPS2,upstream_gene_variant,,ENST00000389167,NM_004489.4;GPS2,upstream_gene_variant,,ENST00000391950,;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,;							LOW	4278/4689		NEUL4_HUMAN			Transcript			.	ENSP00000382390		CCDS42251.1			1	
FAM187B	0	LGGM	GRCh37	19	35719127	35719127	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	3	.	.	ENST00000324675.3:c.457C>A	p.Arg153Ser	p.R153S	ENST00000324675	NM_152481.1	153	Cgc/Agc	0	1	1	UPI0000049306	0	NA	ENST00000324675		ENSG00000177558	26366		42	1.905		HGNC	p.R153S		FAM187B		SNV							ENST00000324675	protein_coding	getma.org/?cm=var&var=hg19,19,35719127,G,T&fts=all		hmmpanther:PTHR32178:SF4,hmmpanther:PTHR32178		R/S		T	medium	506/1184		getma.org/?cm=msa&ty=f&p=F187B_HUMAN&rb=119&re=296&var=R153S	deleterious(0.01)				YES	FAM187B,missense_variant,p.Arg153Ser,ENST00000324675,NM_152481.1;FAM187B2P,downstream_gene_variant,,ENST00000577135,;							MODERATE	457/1110	R153S	F187B_HUMAN			Transcript		benign(0.253)	.	ENSP00000323355		CCDS12448.1			1	
KIAA2022	0	LGGM	GRCh37	X	73961959	73961959	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	30	3	.	.	ENST00000055682.6:c.2433G>T	p.Pro811=	p.P811=	ENST00000055682	NM_001008537.2	811	ccG/ccT	0	1	1	UPI00001C207B	0		ENST00000055682		ENSG00000050030	29433		33			HGNC	p.P811P		KIAA2022		SNV			1				ENST00000373468	protein_coding			hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF2		P		A		3045/11719							YES	KIAA2022,synonymous_variant,p.=,ENST00000055682,NM_001008537.2;KIAA2022,upstream_gene_variant,,ENST00000424929,;							LOW	2433/4551		K2022_HUMAN			Transcript			.	ENSP00000055682		CCDS35337.1			1	
CCDC57	0	LGGM	GRCh37	17	80153189	80153189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	34	3	.	.	ENST00000392343.3:c.568C>A	p.Arg190Ser	p.R190S	ENST00000392343		190	Cgt/Agt	0	1		UPI000155D557	0	NA	ENST00000389641		ENSG00000176155	27564		37	1.67		HGNC	p.R190S		CCDC57		SNV							ENST00000392347	protein_coding	getma.org/?cm=var&var=hg19,17,80153189,G,T&fts=all		hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF1		R/S		T	low	605/3000		getma.org/?cm=msa&ty=f&p=CCD57_HUMAN&rb=1&re=289&var=R190S	deleterious(0.03)					CCDC57,missense_variant,p.Arg190Ser,ENST00000389641,;CCDC57,missense_variant,p.Arg190Ser,ENST00000392347,NM_198082.2;CCDC57,missense_variant,p.Arg190Ser,ENST00000392343,;CCDC57,3_prime_UTR_variant,,ENST00000581625,;CCDC57,non_coding_transcript_exon_variant,,ENST00000578910,;CCDC57,upstream_gene_variant,,ENST00000578187,;							MODERATE	568/2751	R190S	CCD57_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000374292					1	
WDFY1	0	LGGM	GRCh37	2	224765949	224765949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	3	.	.	ENST00000233055.4:c.436G>T	p.Gly146Trp	p.G146W	ENST00000233055	NM_020830.3	146	Ggg/Tgg	0	1	1	UPI0000049887	0	NA	ENST00000233055		ENSG00000085449	20451		39	2.585		HGNC	p.G146W		WDFY1		SNV							ENST00000233055	protein_coding	getma.org/?cm=var&var=hg19,2,224765949,C,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF6,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/W		A	medium	539/4660		getma.org/?cm=msa&ty=f&p=WDFY1_HUMAN&rb=52&re=188&var=G146W	deleterious(0)				YES	WDFY1,missense_variant,p.Gly146Trp,ENST00000233055,NM_020830.3;WDFY1,missense_variant,p.Gly103Trp,ENST00000429915,;WDFY1,non_coding_transcript_exon_variant,,ENST00000483061,;WDFY1,upstream_gene_variant,,ENST00000493001,;							MODERATE	436/1233	G146W	WDFY1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000233055		CCDS33387.1			1	
TERT	0	LGGM	GRCh37	5	1268678	1268678	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	19	3	.	.	ENST00000310581.5:c.2539G>T	p.Gly847Cys	p.G847C	ENST00000310581	NM_198253.2	847	Ggc/Tgc	0	1	1	UPI0000031309	0	getma.org/pdb.php?prot=TERT_HUMAN&from=680&to=919&var=G847C	ENST00000310581		ENSG00000164362	11730		22	3.06		HGNC	p.R786L		TERT		SNV			1				ENST00000296820	protein_coding	getma.org/?cm=var&var=hg19,5,1268678,C,A&fts=all		PROSITE_profiles:PS50878,hmmpanther:PTHR12066:SF0,hmmpanther:PTHR12066,Pfam_domain:PF00078,Superfamily_domains:SSF56672		G/C		A	medium	2597/4018		getma.org/?cm=msa&ty=f&p=TERT_HUMAN&rb=680&re=919&var=G847C	deleterious(0)	Q9UNS6_HUMAN,Q9UNR4_HUMAN,Q9UBR6_HUMAN			YES	TERT,missense_variant,p.Gly847Cys,ENST00000310581,NM_198253.2,NM_001193376.1;TERT,missense_variant,p.Arg786Leu,ENST00000296820,;TERT,missense_variant,p.Gly847Cys,ENST00000334602,;TERT,missense_variant,p.Arg786Leu,ENST00000508104,;TERT,missense_variant,p.Arg774Leu,ENST00000460137,;TERT,non_coding_transcript_exon_variant,,ENST00000484238,;TERT,upstream_gene_variant,,ENST00000503656,;							MODERATE	2539/3399	G847C	TERT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000309572		CCDS3861.2			1	
HOXA4	0	LGGM	GRCh37	7	27168878	27168878	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	3	.	.	ENST00000360046.5:c.929C>A	p.Pro310Gln	p.P310Q	ENST00000360046	NM_002141.4	310	cCg/cAg	0	1	1	UPI000013C810	0	NA	ENST00000360046		ENSG00000197576	5105		35	1.155		HGNC	p.P310Q		HOXA4		SNV							ENST00000428284	protein_coding	getma.org/?cm=var&var=hg19,7,27168878,G,T&fts=all		Low_complexity_(Seg):seg		P/Q		T	low	995/1747		getma.org/?cm=msa&ty=f&p=HXA4_HUMAN&rb=273&re=320&var=P310Q	tolerated_low_confidence(0.21)				YES	HOXA4,missense_variant,p.Pro310Gln,ENST00000360046,NM_002141.4;HOXA4,missense_variant,p.Pro310Gln,ENST00000428284,;HOXA4,missense_variant,p.Pro130Gln,ENST00000511914,;HOXA3,intron_variant,,ENST00000522788,;HOXA3,intron_variant,,ENST00000521779,;HOXA3,upstream_gene_variant,,ENST00000317201,NM_153631.2;HOXA-AS2,intron_variant,,ENST00000521159,;HOXA-AS2,downstream_gene_variant,,ENST00000517550,;HOXA-AS2,downstream_gene_variant,,ENST00000521687,;HOXA-AS3,upstream_gene_variant,,ENST00000518848,;HOXA-AS2,downstream_gene_variant,,ENST00000524048,;RP1-170O19.22,non_coding_transcript_exon_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000521401,;HOXA3,intron_variant,,ENST00000518451,;							MODERATE	929/963	P310Q	HXA4_HUMAN			Transcript		unknown(0)	.	ENSP00000353151		CCDS5405.1			1	
ECHDC2	0	LGGM	GRCh37	1	53362250	53362250	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	3	.	.	ENST00000371522.4:c.821G>T	p.Arg274Leu	p.R274L	ENST00000371522	NM_001198961.1	274	cGg/cTg	0	1	1	UPI0000204369	0	getma.org/pdb.php?prot=ECHD2_HUMAN&from=36&to=284&var=R274L	ENST00000371522		ENSG00000121310	23408		31	2.09		HGNC	p.R228L		ECHDC2		SNV							ENST00000536120	protein_coding	getma.org/?cm=var&var=hg19,1,53362250,C,A&fts=all		hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF44,Pfam_domain:PF00378,Gene3D:1.10.12.10,Superfamily_domains:SSF52096		R/L		A	medium	915/1509		getma.org/?cm=msa&ty=f&p=ECHD2_HUMAN&rb=36&re=284&var=R274L	deleterious(0)	Q8WY60_HUMAN,B7Z7N0_HUMAN			YES	ECHDC2,missense_variant,p.Arg228Leu,ENST00000536120,;ECHDC2,missense_variant,p.Arg274Leu,ENST00000371522,NM_001198961.1;ECHDC2,missense_variant,p.Arg243Leu,ENST00000358358,NM_018281.3;ZYG11A,downstream_gene_variant,,ENST00000371528,NM_001004339.2;ZYG11A,downstream_gene_variant,,ENST00000371532,;ECHDC2,downstream_gene_variant,,ENST00000467988,NM_001198962.1;ECHDC2,non_coding_transcript_exon_variant,,ENST00000479593,;ECHDC2,non_coding_transcript_exon_variant,,ENST00000543419,;ECHDC2,downstream_gene_variant,,ENST00000486170,;ECHDC2,3_prime_UTR_variant,,ENST00000476477,;ECHDC2,3_prime_UTR_variant,,ENST00000371520,;ECHDC2,non_coding_transcript_exon_variant,,ENST00000539680,;ECHDC2,non_coding_transcript_exon_variant,,ENST00000460612,;ECHDC2,non_coding_transcript_exon_variant,,ENST00000479183,;ECHDC2,non_coding_transcript_exon_variant,,ENST00000498544,;ECHDC2,non_coding_transcript_exon_variant,,ENST00000463923,;ECHDC2,downstream_gene_variant,,ENST00000487866,;							MODERATE	821/879	R274L	ECHD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360577		CCDS55600.1			1	
POM121C	0	LGGM	GRCh37	7	75050879	75050879	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	13	3	.	.	ENST00000453279.2:c.2656G>T	p.Gly886Cys	p.G886C	ENST00000453279	NM_001099415.2	886	Ggt/Tgt	0	1	1	UPI00001C1E87	0	NA	ENST00000453279		ENSG00000135213	34005		16	0.895		HGNC	p.G886C		POM121C		SNV							ENST00000453279	protein_coding	getma.org/?cm=var&var=hg19,7,75050879,C,A&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5		G/C		A	low	3521/5839		getma.org/?cm=msa&ty=f&p=P121B_HUMAN&rb=8&re=832&var=G733C	deleterious(0.01)	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN			YES	POM121C,missense_variant,p.Gly886Cys,ENST00000453279,NM_001099415.2;POM121C,missense_variant,p.Gly1128Cys,ENST00000257665,;POM121C,downstream_gene_variant,,ENST00000439629,;NSUN5P1,downstream_gene_variant,,ENST00000393633,;NSUN5P1,downstream_gene_variant,,ENST00000457988,;NSUN5P1,downstream_gene_variant,,ENST00000428392,;NSUN5P1,downstream_gene_variant,,ENST00000422386,;POM121C,downstream_gene_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000476072,;POM121C,downstream_gene_variant,,ENST00000473609,;POM121C,downstream_gene_variant,,ENST00000479864,;							MODERATE	2656/2964	G733C	P121C_HUMAN			Transcript		possibly_damaging(0.54)	.	ENSP00000414208		CCDS47617.1			1	
UBXN1	0	LGGM	GRCh37	11	62445015	62445015	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	46	3	.	.	ENST00000294119.2:c.626G>T	p.Arg209Leu	p.R209L	ENST00000294119	NM_015853.3	209	cGg/cTg	0	1		UPI0000073CEA	0	NA	ENST00000301935		ENSG00000162191	18402		49	1.625		HGNC	p.R209L		UBXN1		SNV							ENST00000534176	protein_coding	getma.org/?cm=var&var=hg19,11,62445015,C,A&fts=all		Superfamily_domains:SSF54236,SMART_domains:SM00166,Gene3D:3.10.20.90,Pfam_domain:PF00789,hmmpanther:PTHR13020,PROSITE_profiles:PS50033		R/L		A	low	793/1153		getma.org/?cm=msa&ty=f&p=UBXN1_HUMAN&rb=208&re=293&var=R209L	deleterious(0.01)	E9PJ81_HUMAN,B4E0P8_HUMAN				UBXN1,missense_variant,p.Arg209Leu,ENST00000294119,NM_015853.3;UBXN1,missense_variant,p.Arg209Leu,ENST00000301935,NM_001286077.1;UBXN1,missense_variant,p.Arg205Leu,ENST00000529640,;UBXN1,missense_variant,p.Arg209Leu,ENST00000534176,;UBXN1,missense_variant,p.Arg67Leu,ENST00000533000,;C11orf83,downstream_gene_variant,,ENST00000531323,;C11orf83,downstream_gene_variant,,ENST00000377953,NM_001085372.2;UBXN1,non_coding_transcript_exon_variant,,ENST00000524762,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525004,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525717,;UBXN1,non_coding_transcript_exon_variant,,ENST00000527421,;UBXN1,non_coding_transcript_exon_variant,,ENST00000526919,;UBXN1,downstream_gene_variant,,ENST00000528907,;UBXN1,downstream_gene_variant,,ENST00000533908,;UBXN1,downstream_gene_variant,,ENST00000436354,;UBXN1,downstream_gene_variant,,ENST00000531056,;UBXN1,downstream_gene_variant,,ENST00000531625,;							MODERATE	626/894	R209L	UBXN1_HUMAN			Transcript		possibly_damaging(0.635)	.	ENSP00000303991		CCDS66105.1			1	
PTPRU	0	LGGM	GRCh37	1	29647284	29647284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	3	.	.	ENST00000345512.3:c.3805G>T	p.Gly1269Trp	p.G1269W	ENST00000345512	NM_005704.4	1269	Ggg/Tgg	0	1	1	UPI000013C57E	0	getma.org/pdb.php?prot=PTPRU_HUMAN&from=1203&to=1438&var=G1269W	ENST00000345512		ENSG00000060656	9683		31	3.02		HGNC	p.G1265W		PTPRU		SNV							ENST00000323874	protein_coding	getma.org/?cm=var&var=hg19,1,29647284,G,T&fts=all		PROSITE_profiles:PS50055,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		G/W		T	medium	3934/4470		getma.org/?cm=msa&ty=f&p=PTPRU_HUMAN&rb=1203&re=1438&var=G1269W	deleterious(0)	B3KT29_HUMAN			YES	PTPRU,missense_variant,p.Gly1265Trp,ENST00000323874,;PTPRU,missense_variant,p.Gly1259Trp,ENST00000373779,NM_133178.3,NM_001195001.1;PTPRU,missense_variant,p.Gly1265Trp,ENST00000356870,NM_133177.3;PTPRU,missense_variant,p.Gly1256Trp,ENST00000428026,;PTPRU,missense_variant,p.Gly1265Trp,ENST00000460170,;PTPRU,missense_variant,p.Gly1269Trp,ENST00000345512,NM_005704.4;PTPRU,non_coding_transcript_exon_variant,,ENST00000493601,;PTPRU,non_coding_transcript_exon_variant,,ENST00000465525,;PTPRU,upstream_gene_variant,,ENST00000492954,;							MODERATE	3805/4341	G1269W	PTPRU_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000334941		CCDS334.1			1	
CPPED1	0	LGGM	GRCh37	16	12798782	12798782	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	20	3	.	.	ENST00000381774.4:c.414C>A	p.Thr138=	p.T138=	ENST00000381774	NM_018340.2	138	acC/acA	0	1	1	UPI000013D1D1	0		ENST00000381774		ENSG00000103381	25632		23			HGNC	p.T138T		CPPED1		SNV							ENST00000381774	protein_coding			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF0,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300		T		T		655/3010							YES	CPPED1,synonymous_variant,p.=,ENST00000381774,NM_018340.2;CPPED1,intron_variant,,ENST00000433677,NM_001099455.1;CPPED1,intron_variant,,ENST00000261660,;							LOW	414/945		CPPED_HUMAN			Transcript			.	ENSP00000371193		CCDS42120.1			1	
KMT2A	0	LGGM	GRCh37	11	118343712	118343712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	3	.	.	ENST00000534358.1:c.1838G>T	p.Arg613Leu	p.R613L	ENST00000534358	NM_005933.3	613	cGa/cTa	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		39	1.04		HGNC	p.R613L		KMT2A		SNV			1				ENST00000354520	protein_coding	getma.org/?cm=var&var=hg19,11,118343712,G,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		R/L		T	low	1838/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1&re=1008&var=R613L		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Arg613Leu,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Arg613Leu,ENST00000354520,;KMT2A,missense_variant,p.Arg613Leu,ENST00000389506,;KMT2A,missense_variant,p.Arg646Leu,ENST00000531904,;KMT2A,intron_variant,,ENST00000533790,;KMT2A,intron_variant,,ENST00000527869,;							MODERATE	1838/11910	R613L	KMT2A_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000374157		CCDS31686.1			1	
SSH3	0	LGGM	GRCh37	11	67077708	67077708	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	15	3	.	.	ENST00000308127.4:c.1581G>T	p.Gly527=	p.G527=	ENST00000308127	NM_017857.3	527	ggG/ggT	0	1	1	UPI0000038D01	0		ENST00000308127		ENSG00000172830	30581		18			HGNC	p.G527G		SSH3		SNV							ENST00000308127	protein_coding					G		T		1759/2871							YES	SSH3,synonymous_variant,p.=,ENST00000308127,NM_017857.3;SSH3,3_prime_UTR_variant,,ENST00000376757,;SSH3,intron_variant,,ENST00000308298,;SSH3,downstream_gene_variant,,ENST00000527821,;SSH3,downstream_gene_variant,,ENST00000532181,;SSH3,downstream_gene_variant,,ENST00000529224,;SSH3,downstream_gene_variant,,ENST00000531495,;SSH3,upstream_gene_variant,,ENST00000525913,;SSH3,3_prime_UTR_variant,,ENST00000532881,;SSH3,downstream_gene_variant,,ENST00000532600,;							LOW	1581/1980		SSH3_HUMAN			Transcript			.	ENSP00000312081		CCDS8157.1			1	
VPS13A	0	LGGM	GRCh37	9	79888216	79888216	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	3	.	.	ENST00000360280.3:c.2448G>A	p.Leu816=	p.L816=	ENST00000360280	NM_033305.2	816	ttG/ttA	0	1	1	UPI0000210B7A	0		ENST00000360280		ENSG00000197969	1908		35			HGNC	p.L816L		VPS13A		SNV			1				ENST00000360280	protein_coding			hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22		L		A		2708/15320							YES	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;							LOW	2448/9525		VP13A_HUMAN			Transcript			.	ENSP00000353422		CCDS6655.1			1	
HMOX2	0	LGGM	GRCh37	16	4559659	4559659	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	30	3	.	.	ENST00000570646.1:c.853C>A	p.Arg285=	p.R285=	ENST00000570646	NM_002134.3	285	Cga/Aga	0	1		UPI000012CAAC	0		ENST00000219700		ENSG00000103415	5014		33			HGNC	p.R285R		HMOX2		SNV							ENST00000570646	protein_coding			PIRSF_domain:PIRSF000343,hmmpanther:PTHR10720,hmmpanther:PTHR10720:SF2		R		A		933/1621				I3L4P8_HUMAN,I3L463_HUMAN,I3L430_HUMAN,I3L276_HUMAN,I3L1F5_HUMAN,I3L159_HUMAN				HMOX2,synonymous_variant,p.=,ENST00000570646,NM_002134.3;HMOX2,synonymous_variant,p.=,ENST00000458134,NM_001127204.1,NM_001286267.1;HMOX2,synonymous_variant,p.=,ENST00000414777,NM_001127205.1;HMOX2,synonymous_variant,p.=,ENST00000406590,NM_001127206.1;HMOX2,synonymous_variant,p.=,ENST00000398595,NM_001286270.1;HMOX2,synonymous_variant,p.=,ENST00000219700,NM_001286268.1;HMOX2,synonymous_variant,p.=,ENST00000575120,NM_001286271.1;HMOX2,3_prime_UTR_variant,,ENST00000570622,;CDIP1,downstream_gene_variant,,ENST00000399599,;CDIP1,downstream_gene_variant,,ENST00000563332,NM_001199054.1;CDIP1,downstream_gene_variant,,ENST00000567695,NM_013399.2;CDIP1,downstream_gene_variant,,ENST00000564828,;CDIP1,downstream_gene_variant,,ENST00000563507,NM_001199055.1;CDIP1,downstream_gene_variant,,ENST00000562334,NM_001199056.1;HMOX2,downstream_gene_variant,,ENST00000575051,;HMOX2,downstream_gene_variant,,ENST00000570445,;CDIP1,downstream_gene_variant,,ENST00000586728,;HMOX2,downstream_gene_variant,,ENST00000574466,;HMOX2,downstream_gene_variant,,ENST00000575129,;HMOX2,downstream_gene_variant,,ENST00000576827,;CDIP1,downstream_gene_variant,,ENST00000562579,;HMOX2,downstream_gene_variant,,ENST00000572812,;CDIP1,downstream_gene_variant,,ENST00000588381,;CDIP1,downstream_gene_variant,,ENST00000589890,;CDIP1,downstream_gene_variant,,ENST00000563186,;CDIP1,downstream_gene_variant,,ENST00000566234,;CDIP1,downstream_gene_variant,,ENST00000589159,;							LOW	853/951		HMOX2_HUMAN			Transcript			.	ENSP00000219700		CCDS10517.1			1	
CYP2D6	0	LGGM	GRCh37	22	42522942	42522942	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	8	3	.	.	ENST00000360608.5:c.1226G>T	p.Trp409Leu	p.W409L	ENST00000360608	NM_000106.5	409	tGg/tTg	0	1	1	UPI0000157756	0	getma.org/pdb.php?prot=CP2D6_HUMAN&from=34&to=494&var=W409L	ENST00000360608		ENSG00000100197	2625		11	4.06		HGNC	p.W409L		CYP2D6		SNV			1				ENST00000389970	protein_coding	getma.org/?cm=var&var=hg19,22,42522942,C,A&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF13,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR01686,Prints_domain:PR00463		W/L		A	high	1341/1684		getma.org/?cm=msa&ty=f&p=CP2D6_HUMAN&rb=34&re=494&var=W409L	deleterious(0)	Q6NWU0_HUMAN,Q007T9_HUMAN			YES	CYP2D6,missense_variant,p.Trp409Leu,ENST00000360608,NM_000106.5;CYP2D6,missense_variant,p.Trp409Leu,ENST00000389970,;CYP2D6,missense_variant,p.Trp358Leu,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,downstream_gene_variant,,ENST00000600968,;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,;							MODERATE	1226/1494	W409L				Transcript		probably_damaging(1)	.	ENSP00000353820		CCDS46721.1			1	
NAT2	0	LGGM	GRCh37	8	18258350	18258350	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	29	3	.	.	ENST00000286479.3:c.837C>A	p.Leu279=	p.L279=	ENST00000286479	NM_000015.2	279	ctC/ctA	0	1	1	UPI000013DE51	0		ENST00000286479		ENSG00000156006	7646		32			HGNC	p.L279L		NAT2		SNV			1				ENST00000286479	protein_coding			hmmpanther:PTHR11786,hmmpanther:PTHR11786:SF6,Pfam_domain:PF00797,Gene3D:1w5rA01,Superfamily_domains:SSF54001,Prints_domain:PR01543		L		A		944/1322				Q400I7_HUMAN,E7EWF9_HUMAN,A4Z6T7_HUMAN			YES	NAT2,synonymous_variant,p.=,ENST00000286479,NM_000015.2;NAT2,synonymous_variant,p.=,ENST00000520116,;							LOW	837/873		ARY2_HUMAN			Transcript			.	ENSP00000286479		CCDS6008.1			1	
IRF4	0	LGGM	GRCh37	6	398883	398883	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	6	4	.	.	ENST00000380956.4:c.693C>A	p.Pro231=	p.P231=	ENST00000380956	NM_001195286.1	231	ccC/ccA	0	1	1	UPI000012D88B	0		ENST00000380956		ENSG00000137265	6119		10			HGNC	p.P231P		IRF4		SNV			1				ENST00000493114	protein_coding			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6		P		A		819/5331							YES	IRF4,synonymous_variant,p.=,ENST00000380956,NM_001195286.1,NM_002460.3;IRF4,downstream_gene_variant,,ENST00000495137,;IRF4,downstream_gene_variant,,ENST00000468485,;IRF4,downstream_gene_variant,,ENST00000469834,;IRF4,synonymous_variant,p.=,ENST00000493114,;							LOW	693/1356		IRF4_HUMAN			Transcript			.	ENSP00000370343		CCDS4469.1			1	
PLA2G4C	0	LGGM	GRCh37	19	48609797	48609797	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	4	.	.	ENST00000599111.1:c.51C>A	p.Thr17=	p.T17=	ENST00000599111	NM_003706.2	17	acC/acA	0	1		UPI00001AF235	0		ENST00000599921		ENSG00000105499	9037		43			HGNC	p.T17T	rs570635333	PLA2G4C		SNV				9.63E-05			ENST00000599111	protein_coding		T:0.0008					T		348/1984				Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN,M0R0F6_HUMAN	T:0	T:0		PLA2G4C,synonymous_variant,p.=,ENST00000599111,NM_003706.2,NM_001159322.1;PLA2G4C,5_prime_UTR_variant,,ENST00000354276,NM_001159323.1;PLA2G4C,5_prime_UTR_variant,,ENST00000599921,;PLA2G4C,5_prime_UTR_variant,,ENST00000596138,;PLA2G4C,intron_variant,,ENST00000596352,;PLA2G4C,upstream_gene_variant,,ENST00000413144,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000594156,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000598813,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000595899,;PLA2G4C,3_prime_UTR_variant,,ENST00000595487,;PLA2G4C,3_prime_UTR_variant,,ENST00000598488,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599063,;PLA2G4C,upstream_gene_variant,,ENST00000600170,;		T:0.0002					MODIFIER	-/1626		PA24C_HUMAN		T:0	Transcript			.	ENSP00000469473	8.24E-06	CCDS12710.1		T:0	1	
CCDC74A	0	LGGM	GRCh37	2	132290262	132290262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	30	4	.	.	ENST00000295171.6:c.784C>A	p.Leu262Met	p.L262M	ENST00000295171	NM_138770.2	262	Ctg/Atg	0	1	1	UPI000006E43A	0	NA	ENST00000295171		ENSG00000163040	25197		34	2.125		HGNC	p.L196M		CCDC74A		SNV							ENST00000409856	protein_coding	getma.org/?cm=var&var=hg19,2,132290262,C,A&fts=all		Pfam_domain:PF14917,Low_complexity_(Seg):seg		L/M		A	medium	922/1543		getma.org/?cm=msa&ty=f&p=CC74A_HUMAN&rb=1&re=376&var=L262M	deleterious(0)				YES	CCDC74A,missense_variant,p.Leu262Met,ENST00000295171,NM_138770.2,NM_001258305.1,NM_001258304.1;CCDC74A,missense_variant,p.Leu196Met,ENST00000409856,NM_001258306.1;CCDC74A,3_prime_UTR_variant,,ENST00000467992,;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;							MODERATE	784/1137	L262M	CC74A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000295171		CCDS2167.1			1	
TRPM6	0	LGGM	GRCh37	9	77359015	77359015	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	35	4	.	.	ENST00000360774.1:c.5130T>C	p.Tyr1710=	p.Y1710=	ENST00000360774	NM_017662.4	1710	taT/taC	0	1	1	UPI000006E041	0		ENST00000360774		ENSG00000119121	17995		39			HGNC	p.Y547Y		TRPM6		SNV			1				ENST00000376871	protein_coding			hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800,Superfamily_domains:SSF56112		Y		G		5368/8425							YES	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,synonymous_variant,p.=,ENST00000376872,;TRPM6,synonymous_variant,p.=,ENST00000376871,;							LOW	5130/6069		TRPM6_HUMAN			Transcript			.	ENSP00000354006		CCDS6647.1			1	
MUTYH	0	LGGM	GRCh37	1	45798100	45798100	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	10	4	.	.	ENST00000372115.3:c.709G>A	p.Ala237Thr	p.A237T	ENST00000372115	NM_001048171.1	237	Gct/Act	0	1	1	UPI000006EB4F	0	getma.org/pdb.php?prot=MUTYH_HUMAN&from=129&to=265&var=A248T	ENST00000372098		ENSG00000132781	7527		14	1.085		HGNC	p.A234T		MUTYH		SNV			1				ENST00000448481	protein_coding	getma.org/?cm=var&var=hg19,1,45798100,C,T&fts=all		Superfamily_domains:SSF48150,SMART_domains:SM00478,Pfam_domain:PF00730,Gene3D:1.10.1670.10,hmmpanther:PTHR10359:SF24,hmmpanther:PTHR10359		A/T		T	low	876/1839		getma.org/?cm=msa&ty=f&p=MUTYH_HUMAN&rb=129&re=265&var=A248T	deleterious(0.01)	E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN			YES	MUTYH,missense_variant,p.Ala251Thr,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,missense_variant,p.Ala237Thr,ENST00000372115,NM_001048171.1;MUTYH,missense_variant,p.Ala248Thr,ENST00000372098,;MUTYH,missense_variant,p.Ala223Thr,ENST00000372104,;MUTYH,missense_variant,p.Ala238Thr,ENST00000372110,;MUTYH,missense_variant,p.Ala234Thr,ENST00000372100,;MUTYH,missense_variant,p.Ala223Thr,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,missense_variant,p.Ala224Thr,ENST00000354383,;MUTYH,missense_variant,p.Ala234Thr,ENST00000448481,;MUTYH,missense_variant,p.Ala223Thr,ENST00000456914,NM_001048174.1;MUTYH,missense_variant,p.Ala237Thr,ENST00000528013,;MUTYH,missense_variant,p.Ala234Thr,ENST00000435155,;MUTYH,missense_variant,p.Ala95Thr,ENST00000412971,;MUTYH,intron_variant,,ENST00000529984,;MUTYH,intron_variant,,ENST00000528332,;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,missense_variant,p.Cys99Tyr,ENST00000533178,;MUTYH,missense_variant,p.Ala21Thr,ENST00000467459,;MUTYH,missense_variant,p.Cys185Tyr,ENST00000470256,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000467940,;MUTYH,3_prime_UTR_variant,,ENST00000461495,;MUTYH,3_prime_UTR_variant,,ENST00000525160,;MUTYH,non_coding_transcript_exon_variant,,ENST00000462388,;MUTYH,non_coding_transcript_exon_variant,,ENST00000478796,;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,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485271,;MUTYH,upstream_gene_variant,,ENST00000466231,;							MODERATE	742/1641	A248T	MUTYH_HUMAN			Transcript		possibly_damaging(0.714)	.	ENSP00000361170		CCDS520.1			1	
ITGAX	0	LGGM	GRCh37	16	31382711	31382711	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	11	4	.	.	ENST00000268296.4:c.1898C>T	p.Pro633Leu	p.P633L	ENST00000268296	NM_000887.3	633	cCc/cTc	0	1	1	UPI00001C0366	0	getma.org/pdb.php?prot=ITAX_HUMAN&from=615&to=1032&var=P633L	ENST00000268296		ENSG00000140678	6152		15	0.205		HGNC	p.P633L		ITGAX		SNV							ENST00000268296	protein_coding	getma.org/?cm=var&var=hg19,16,31382711,C,T&fts=all		Superfamily_domains:SSF69179,Pfam_domain:PF08441,Gene3D:1jv2A02,hmmpanther:PTHR23220:SF17,hmmpanther:PTHR23220		P/L		T	neutral	2019/4703		getma.org/?cm=msa&ty=f&p=ITAX_HUMAN&rb=615&re=1032&var=P633L	deleterious(0.04)	B4DDX0_HUMAN			YES	ITGAX,missense_variant,p.Pro633Leu,ENST00000268296,NM_000887.3;ITGAX,missense_variant,p.Pro633Leu,ENST00000562522,NM_001286375.1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,;ITGAX,upstream_gene_variant,,ENST00000562138,;							MODERATE	1898/3492	P633L	ITAX_HUMAN			Transcript		benign(0.244)	.	ENSP00000268296		CCDS10711.1			1	
EOMES	0	LGGM	GRCh37	3	27760901	27760901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	78	4	.	.	ENST00000295743.4:c.1108G>T	p.Gly370Trp	p.G370W	ENST00000295743	NM_005442.3	370	Ggg/Tgg	0	1	1	UPI000013E29D	0	getma.org/pdb.php?prot=EOMES_HUMAN&from=268&to=457&var=G370W	ENST00000295743		ENSG00000163508	3372		82	2.565		HGNC	p.G370W	COSM1422277	EOMES		SNV			1			1	ENST00000449599	protein_coding	getma.org/?cm=var&var=hg19,3,27760901,C,A&fts=all		Gene3D:1h6fA00,Pfam_domain:PF00907,Prints_domain:PR00937,PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13,Low_complexity_(Seg):seg,SMART_domains:SM00425,Superfamily_domains:SSF49417		G/W		A	medium	1312/3386		getma.org/?cm=msa&ty=f&p=EOMES_HUMAN&rb=268&re=457&var=G370W	deleterious(0)				YES	EOMES,missense_variant,p.Gly370Trp,ENST00000295743,NM_005442.3,NM_001278182.1;EOMES,missense_variant,p.Gly370Trp,ENST00000449599,;EOMES,missense_variant,p.Gly75Trp,ENST00000537516,NM_001278183.1;EOMES,non_coding_transcript_exon_variant,,ENST00000461503,;					1		MODERATE	1108/2061	G370W	EOMES_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000295743		CCDS2646.1			1	
HMGCL	0	LGGM	GRCh37	1	24147024	24147024	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	4	.	.	ENST00000374490.3:c.120C>A	p.Pro40=	p.P40=	ENST00000374490	NM_000191.2	40	ccC/ccA	0	1	1	UPI000012CA36	0		ENST00000374490		ENSG00000117305	5005		49			HGNC	p.P40P		HMGCL		SNV			1				ENST00000436439	protein_coding			Gene3D:3.20.20.70,PROSITE_profiles:PS50991,hmmpanther:PTHR10277,hmmpanther:PTHR10277:SF35,Superfamily_domains:SSF51569		P		T		164/1600				B1AK13_HUMAN			YES	HMGCL,synonymous_variant,p.=,ENST00000374483,;HMGCL,synonymous_variant,p.=,ENST00000374490,NM_000191.2;HMGCL,synonymous_variant,p.=,ENST00000436439,NM_001166059.1;HMGCL,synonymous_variant,p.=,ENST00000235958,;HMGCL,non_coding_transcript_exon_variant,,ENST00000509389,;HMGCL,upstream_gene_variant,,ENST00000479458,;HMGCL,upstream_gene_variant,,ENST00000498698,;HMGCL,3_prime_UTR_variant,,ENST00000374487,;HMGCL,non_coding_transcript_exon_variant,,ENST00000513148,;							LOW	120/978		HMGCL_HUMAN			Transcript			.	ENSP00000363614		CCDS243.1			1	
MAATS1	0	LGGM	GRCh37	3	119466110	119466110	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000273390.5:c.2051G>T	p.Arg684Leu	p.R684L	ENST00000273390	NM_033364.3	684	cGc/cTc	0	1	1	UPI00001C1DFE	0	NA	ENST00000273390		ENSG00000183833	24010		46	2.36		HGNC	p.R684L		MAATS1		SNV							ENST00000273390	protein_coding	getma.org/?cm=var&var=hg19,3,119466110,G,T&fts=all		hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455		R/L		T	medium	2128/4433		getma.org/?cm=msa&ty=f&p=AAT1_HUMAN&rb=1&re=601&var=R520L	deleterious(0.03)				YES	MAATS1,missense_variant,p.Arg684Leu,ENST00000273390,NM_033364.3;RP11-169N13.4,intron_variant,,ENST00000489428,;MAATS1,upstream_gene_variant,,ENST00000472117,;MAATS1,upstream_gene_variant,,ENST00000475543,;MAATS1,upstream_gene_variant,,ENST00000496010,;MAATS1,upstream_gene_variant,,ENST00000470948,;MAATS1,upstream_gene_variant,,ENST00000482995,;MAATS1,splice_region_variant,,ENST00000482573,;MAATS1,splice_region_variant,,ENST00000482927,;MAATS1,splice_region_variant,,ENST00000475093,;							MODERATE	2051/2304	R520L	MAAT1_HUMAN			Transcript		possibly_damaging(0.511)	.	ENSP00000273390		CCDS2994.1			1	
DGAT2	0	LGGM	GRCh37	11	75508279	75508279	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	35	4	.	.	ENST00000228027.7:c.711G>T	p.Val237=	p.V237=	ENST00000228027	NM_032564.4	237	gtG/gtT	0	1	1	UPI0000048F05	0		ENST00000228027		ENSG00000062282	16940		39			HGNC	p.V237V		DGAT2		SNV							ENST00000228027	protein_coding			Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF14		V		T		971/2453				S4R449_HUMAN,S4R3Z3_HUMAN,S4R383_HUMAN			YES	DGAT2,synonymous_variant,p.=,ENST00000228027,NM_032564.4;DGAT2,synonymous_variant,p.=,ENST00000376262,NM_001253891.1;DGAT2,synonymous_variant,p.=,ENST00000604733,;DGAT2,synonymous_variant,p.=,ENST00000603276,;DGAT2,downstream_gene_variant,,ENST00000604935,;DGAT2,downstream_gene_variant,,ENST00000605099,;RP11-535A19.1,downstream_gene_variant,,ENST00000534354,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603363,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603865,;							LOW	711/1167		DGAT2_HUMAN			Transcript			.	ENSP00000228027		CCDS31642.1			1	
CRTC1	0	LGGM	GRCh37	19	18857904	18857904	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	24	4	.	.	ENST00000338797.6:c.471C>A	p.Pro157=	p.P157=	ENST00000338797	NM_001098482.1	157	ccC/ccA	0	1		UPI0000140CBC	0		ENST00000321949		ENSG00000105662	16062		28			HGNC	p.P66P		CRTC1		SNV							ENST00000601916	protein_coding			hmmpanther:PTHR13589:SF14,hmmpanther:PTHR13589		P		A		449/2501								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,;							LOW	423/1905		CRTC1_HUMAN			Transcript			.	ENSP00000323332		CCDS32963.1			1	
KLC4	0	LGGM	GRCh37	6	43041007	43041007	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	4	.	.	ENST00000259708.3:c.1730G>T	p.Arg577Leu	p.R577L	ENST00000259708	NM_201523.1	577	cGg/cTg	0	1		UPI00001BDB9C	0	NA	ENST00000347162		ENSG00000137171	21624		49	2.275		HGNC	p.R559L		KLC4		SNV							ENST00000347162	protein_coding	getma.org/?cm=var&var=hg19,6,43041007,G,T&fts=all		hmmpanther:PTHR19959:SF138,hmmpanther:PTHR19959		R/L		T	medium	1793/2404		getma.org/?cm=msa&ty=f&p=KLC4_HUMAN&rb=523&re=617&var=R559L	deleterious_low_confidence(0)	C9K0D5_HUMAN,C9JZE5_HUMAN,C9JXT5_HUMAN,C9JQU1_HUMAN				KLC4,missense_variant,p.Arg559Leu,ENST00000394056,;KLC4,missense_variant,p.Arg577Leu,ENST00000259708,NM_201523.1;KLC4,missense_variant,p.Arg559Leu,ENST00000479388,;KLC4,missense_variant,p.Arg559Leu,ENST00000394058,NM_201522.1;KLC4,missense_variant,p.Arg559Leu,ENST00000347162,NM_201521.1;KLC4,missense_variant,p.Arg482Leu,ENST00000453940,;PTK7,upstream_gene_variant,,ENST00000230419,NM_002821.4;PTK7,upstream_gene_variant,,ENST00000345201,NM_152880.3;PTK7,upstream_gene_variant,,ENST00000352931,NM_152882.3;PTK7,upstream_gene_variant,,ENST00000349241,NM_152881.3;PTK7,upstream_gene_variant,,ENST00000481273,NM_001270398.1;PTK7,upstream_gene_variant,,ENST00000471863,;PTK7,upstream_gene_variant,,ENST00000476760,;KLC4,downstream_gene_variant,,ENST00000470728,;RP11-387M24.5,downstream_gene_variant,,ENST00000606123,;KLC4,3_prime_UTR_variant,,ENST00000467906,;KLC4,non_coding_transcript_exon_variant,,ENST00000463168,;PTK7,upstream_gene_variant,,ENST00000487673,;PTK7,upstream_gene_variant,,ENST00000470019,;PTK7,upstream_gene_variant,,ENST00000230418,;KLC4,downstream_gene_variant,,ENST00000463063,;KLC4,downstream_gene_variant,,ENST00000469987,;KLC4,upstream_gene_variant,,ENST00000486439,;							MODERATE	1676/1860	R559L	KLC4_HUMAN			Transcript		benign(0.004)	.	ENSP00000340221		CCDS4883.1			1	
ACSL5	0	LGGM	GRCh37	10	114185238	114185238	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	29	4	.	.	ENST00000356116.1:c.1904G>T	p.Arg635Leu	p.R635L	ENST00000356116	NM_016234.3	635	cGg/cTg	0	1		UPI000012E295	0	NA	ENST00000354273		ENSG00000197142	16526		33	2.62		HGNC	p.R579L		ACSL5		SNV							ENST00000433418	protein_coding	getma.org/?cm=var&var=hg19,10,114185238,G,T&fts=all		hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF143,Superfamily_domains:SSF56801		R/L		T	medium	2015/3353		getma.org/?cm=msa&ty=f&p=ACSL5_HUMAN&rb=574&re=683&var=R579L	deleterious(0)					ACSL5,missense_variant,p.Arg579Leu,ENST00000393081,NM_203380.1;ACSL5,missense_variant,p.Arg579Leu,ENST00000354273,;ACSL5,missense_variant,p.Arg635Leu,ENST00000356116,NM_016234.3;ACSL5,missense_variant,p.Arg579Leu,ENST00000354655,NM_203379.1;ACSL5,missense_variant,p.Arg579Leu,ENST00000433418,;ACSL5,missense_variant,p.Arg361Leu,ENST00000369410,;ZDHHC6,downstream_gene_variant,,ENST00000369405,NM_022494.1;ACSL5,splice_region_variant,,ENST00000496328,;ACSL5,downstream_gene_variant,,ENST00000495539,;							MODERATE	1736/2052	R579L	ACSL5_HUMAN			Transcript		benign(0.106)	.	ENSP00000346223		CCDS7573.1			1	
C6orf58	0	LGGM	GRCh37	6	127898491	127898491	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	4	.	.	ENST00000329722.7:c.161C>A	p.Pro54His	p.P54H	ENST00000329722	NM_001010905.2	54	cCc/cAc	0	1	1	UPI00001D80C9	0	NA	ENST00000329722		ENSG00000184530	20960		45	2.475		HGNC	p.P54H		C6orf58		SNV							ENST00000329722	protein_coding	getma.org/?cm=var&var=hg19,6,127898491,C,A&fts=all		Pfam_domain:PF05612,hmmpanther:PTHR18820,hmmpanther:PTHR18820:SF2		P/H		A	medium	173/1200		getma.org/?cm=msa&ty=f&p=CF058_HUMAN&rb=1&re=328&var=P54H	deleterious(0)				YES	C6orf58,missense_variant,p.Pro54His,ENST00000329722,NM_001010905.2;C6orf58,intron_variant,,ENST00000498112,;							MODERATE	161/993	P54H	CF058_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000328069		CCDS34533.1			1	
GPER1	0	LGGM	GRCh37	7	1132346	1132346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	55	4	.	.	ENST00000397092.1:c.982G>T	p.Gly328Trp	p.G328W	ENST00000397092	NM_001039966.1	328	Ggg/Tgg	0	1		UPI00000503F2	0	NA	ENST00000297469		ENSG00000164850	4485		59	0.975		HGNC	p.G328W		GPER1		SNV							ENST00000397088	protein_coding	getma.org/?cm=var&var=hg19,7,1132346,G,T&fts=all		hmmpanther:PTHR24226:SF2,hmmpanther:PTHR24226,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/W		T	low	1673/2778		getma.org/?cm=msa&ty=f&p=GPER_HUMAN&rb=325&re=375&var=G328W	deleterious(0)	C9J3W2_HUMAN				GPER1,missense_variant,p.Gly328Trp,ENST00000397092,NM_001039966.1;GPER1,missense_variant,p.Gly328Trp,ENST00000297469,NM_001505.2;GPER1,missense_variant,p.Gly328Trp,ENST00000397088,NM_001098201.1;GPER1,missense_variant,p.Gly328Trp,ENST00000401670,;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,;GPER1,downstream_gene_variant,,ENST00000413368,;C7orf50,intron_variant,,ENST00000488073,;							MODERATE	982/1128	G328W	GPER1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297469		CCDS5322.1			1	
TNRC6A	0	LGGM	GRCh37	16	24801212	24801212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	12	4	.	.	ENST00000395799.3:c.1249C>A	p.His417Asn	p.H417N	ENST00000395799	NM_014494.2	417	Cat/Aat	0	1	1	UPI000059D33E	0	NA	ENST00000395799		ENSG00000090905	11969		16	0.84		HGNC	p.H417N		TNRC6A		SNV							ENST00000395799	protein_coding	getma.org/?cm=var&var=hg19,16,24801212,C,A&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28		H/N		A	low	1378/8438		getma.org/?cm=msa&ty=f&p=TNR6A_HUMAN&rb=401&re=600&var=H417N	tolerated(0.36)	G8JLL8_HUMAN			YES	TNRC6A,missense_variant,p.His417Asn,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.His417Asn,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000568903,;TNRC6A,upstream_gene_variant,,ENST00000567232,;							MODERATE	1249/5889	H417N	TNR6A_HUMAN			Transcript		benign(0.198)	.	ENSP00000379144		CCDS10624.2			1	
C9orf37	0	LGGM	GRCh37	9	140510345	140510345	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	14	4	.	.	ENST00000371417.3:c.307T>G	p.Phe103Val	p.F103V	ENST00000371417	NM_032937.4	103	Ttt/Gtt	0	1	1	UPI0000072CA3	0	NA	ENST00000371417		ENSG00000203993	23395		18	0		HGNC	p.F103V		C9orf37		SNV							ENST00000371417	protein_coding	getma.org/?cm=var&var=hg19,9,140510345,A,C&fts=all				F/V		C	neutral	848/1409		getma.org/?cm=msa&ty=f&p=CI037_HUMAN&rb=1&re=176&var=F103V	deleterious_low_confidence(0)				YES	C9orf37,missense_variant,p.Phe103Val,ENST00000371417,NM_032937.4;EHMT1,upstream_gene_variant,,ENST00000460843,NM_024757.4;EHMT1,upstream_gene_variant,,ENST00000462484,NM_001145527.1;EHMT1,upstream_gene_variant,,ENST00000334856,;ARRDC1,downstream_gene_variant,,ENST00000371421,NM_152285.2;ARRDC1,downstream_gene_variant,,ENST00000419386,;ARRDC1,downstream_gene_variant,,ENST00000431925,;C9orf37,non_coding_transcript_exon_variant,,ENST00000496793,;ARRDC1,downstream_gene_variant,,ENST00000491911,;EHMT1,upstream_gene_variant,,ENST00000371394,;ARRDC1,downstream_gene_variant,,ENST00000466367,;ARRDC1,downstream_gene_variant,,ENST00000475658,;ARRDC1,downstream_gene_variant,,ENST00000497877,;ARRDC1,downstream_gene_variant,,ENST00000495220,;ARRDC1,downstream_gene_variant,,ENST00000483563,;ARRDC1,downstream_gene_variant,,ENST00000471125,;ARRDC1,downstream_gene_variant,,ENST00000468983,;ARRDC1,downstream_gene_variant,,ENST00000461627,;							MODERATE	307/531	F103V	CI037_HUMAN			Transcript		benign(0.018)	.	ENSP00000360471		CCDS35189.1			1	
SLC15A4	0	LGGM	GRCh37	12	129283882	129283882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	63	4	.	.	ENST00000266771.5:c.1495G>T	p.Gly499Trp	p.G499W	ENST00000266771	NM_145648.3	499	Ggg/Tgg	0	1	1	UPI000006F120	0	NA	ENST00000266771		ENSG00000139370	23090		67	3.505		HGNC	p.G16W		SLC15A4		SNV							ENST00000545031	protein_coding	getma.org/?cm=var&var=hg19,12,129283882,C,A&fts=all		Gene3D:1.20.1250.20,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF80,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		G/W		A	high	1535/2776		getma.org/?cm=msa&ty=f&p=S15A4_HUMAN&rb=497&re=577&var=G499W	deleterious(0)	F5GZQ7_HUMAN,B6ZDF2_HUMAN			YES	SLC15A4,missense_variant,p.Gly499Trp,ENST00000266771,NM_145648.3;SLC15A4,missense_variant,p.Gly162Trp,ENST00000544112,;SLC15A4,missense_variant,p.Gly16Trp,ENST00000545031,;SLC15A4,3_prime_UTR_variant,,ENST00000376744,;SLC15A4,downstream_gene_variant,,ENST00000366292,;							MODERATE	1495/1734	G499W	S15A4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266771		CCDS9264.1			1	
RNF219	0	LGGM	GRCh37	13	79191227	79191227	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	52	4	.	.	ENST00000282003.6:c.669G>A	p.Gln223=	p.Q223=	ENST00000282003	NM_024546.3	223	caG/caA	0	1	1	UPI0000458868	0		ENST00000282003		ENSG00000152193	20308	8.68E-05	56			HGNC	p.Q223Q	rs757744372	RNF219		SNV							ENST00000282003	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14609		Q		T		728/3529							YES	RNF219,synonymous_variant,p.=,ENST00000282003,NM_024546.3;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000606429,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000560584,;RNF219-AS1,downstream_gene_variant,,ENST00000560209,;							LOW	669/2181		RN219_HUMAN			Transcript			.	ENSP00000282003	8.24E-06	CCDS31997.1			1	
TNFRSF1B	0	LGGM	GRCh37	1	12267014	12267014	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	25	4	.	.	ENST00000376259.3:c.1323G>T	p.Leu441=	p.L441=	ENST00000376259	NM_001066.2	441	ctG/ctT	0	1	1	UPI000002FAE1	0		ENST00000376259		ENSG00000028137	11917		29			HGNC	p.L441L		TNFRSF1B		SNV							ENST00000376259	protein_coding			hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF108		L		T		1412/3683				Q9UIH2_HUMAN,Q9UIG9_HUMAN,Q6LBF2_HUMAN			YES	TNFRSF1B,synonymous_variant,p.=,ENST00000376259,NM_001066.2;TNFRSF1B,non_coding_transcript_exon_variant,,ENST00000492361,;							LOW	1323/1386		TNR1B_HUMAN			Transcript			.	ENSP00000365435		CCDS145.1			1	
SLC39A12	0	LGGM	GRCh37	10	18254522	18254522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	44	4	.	.	ENST00000377369.2:c.654G>T	p.Gln218His	p.Q218H	ENST00000377369	NM_001145195.1	218	caG/caT	0	1	1	UPI00004044FC	0	NA	ENST00000377369		ENSG00000148482	20860		48	2.455		HGNC	p.Q218H	COSM1638508,COSM1638507	SLC39A12		SNV						1,1	ENST00000377369	protein_coding	getma.org/?cm=var&var=hg19,10,18254522,G,T&fts=all		hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF4		Q/H		T	medium	927/2808		getma.org/?cm=msa&ty=f&p=S39AC_HUMAN&rb=201&re=365&var=Q218H	deleterious(0)	F5GX72_HUMAN			YES	SLC39A12,missense_variant,p.Gln218His,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Gln218His,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Gln218His,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Gln84His,ENST00000539911,NM_001282734.1;					1,1		MODERATE	654/2076	Q218H	S39AC_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000366586		CCDS44362.1			1	
FOXK1	0	LGGM	GRCh37	7	4794952	4794952	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000328914.4:c.988G>T	p.Gly330Trp	p.G330W	ENST00000328914	NM_001037165.1	330	Ggg/Tgg	0	1	1	UPI00004158EB	0	getma.org/pdb.php?prot=FOXK1_HUMAN&from=305&to=400&var=G330W	ENST00000328914		ENSG00000164916	23480		46	3.42		HGNC	p.G330W		FOXK1		SNV							ENST00000328914	protein_coding	getma.org/?cm=var&var=hg19,7,4794952,G,T&fts=all		PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053		G/W		T	medium	988/11181		getma.org/?cm=msa&ty=f&p=FOXK1_HUMAN&rb=305&re=400&var=G330W	deleterious(0)	B3KV39_HUMAN			YES	FOXK1,missense_variant,p.Gly330Trp,ENST00000328914,NM_001037165.1;FOXK1,missense_variant,p.Gly167Trp,ENST00000446823,;FOXK1,downstream_gene_variant,,ENST00000460979,;FOXK1,upstream_gene_variant,,ENST00000496023,;							MODERATE	988/2202	G330W	FOXK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328720		CCDS34591.1			1	
UNC79	0	LGGM	GRCh37	14	94088850	94088850	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	4	.	.	ENST00000256339.4:c.4740C>A	p.Pro1580=	p.P1580=	ENST00000256339	NM_020818.3	1580	ccC/ccA	0	1		UPI00021CF3DC	0		ENST00000393151		ENSG00000133958	19966		43			HGNC	p.P1580P		UNC79		SNV							ENST00000256339	protein_coding			hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		P		A		5271/7908								UNC79,synonymous_variant,p.=,ENST00000553484,;UNC79,synonymous_variant,p.=,ENST00000555664,;UNC79,synonymous_variant,p.=,ENST00000256339,NM_020818.3;UNC79,synonymous_variant,p.=,ENST00000393151,;							LOW	5271/7908		UNC79_HUMAN			Transcript			.	ENSP00000376858					1	
ANXA4	0	LGGM	GRCh37	2	70015230	70015230	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	37	4	.	.	ENST00000394295.4:c.54C>A	p.Ala18=	p.A18=	ENST00000394295	NM_001153.3	18	gcC/gcA	0	1	1	UPI000013D51A	0		ENST00000394295		ENSG00000196975	542		41			HGNC	p.A18A		ANXA4		SNV							ENST00000394295	protein_coding			Superfamily_domains:SSF47874,Gene3D:1.10.220.10,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF28		A		A		302/2163				Q6MZI0_HUMAN,Q6LES2_HUMAN,B4DDF9_HUMAN			YES	ANXA4,synonymous_variant,p.=,ENST00000394295,NM_001153.3;ANXA4,synonymous_variant,p.=,ENST00000409920,;ANXA4,intron_variant,,ENST00000536030,;ANXA4,non_coding_transcript_exon_variant,,ENST00000487351,;ANXA4,non_coding_transcript_exon_variant,,ENST00000460439,;ANXA4,non_coding_transcript_exon_variant,,ENST00000484219,;ANXA4,intron_variant,,ENST00000460942,;ANXA4,non_coding_transcript_exon_variant,,ENST00000477632,;							LOW	54/966		ANXA4_HUMAN			Transcript			.	ENSP00000377833		CCDS1894.1			1	
OR1D5	0	LGGM	GRCh37	17	2966101	2966101	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000575751.1:c.801C>A	p.Ser267=	p.S267=	ENST00000575751	NM_014566.1	267	tcC/tcA	0	1	1	UPI0000041B11	0		ENST00000575751		ENSG00000262628	8186		46			HGNC	p.S267S		OR1D5		SNV							ENST00000575751	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF285,Superfamily_domains:SSF81321		S		T		801/939				Q6IFL7_HUMAN			YES	OR1D5,synonymous_variant,p.=,ENST00000575751,NM_014566.1;							LOW	801/939		OR1D5_HUMAN			Transcript			.	ENSP00000459028		CCDS58499.1			1	
FZD10	0	LGGM	GRCh37	12	130648774	130648774	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	4	.	.	ENST00000229030.4:c.1287G>T	p.Thr429=	p.T429=	ENST00000229030		429	acG/acT	0	1	1	UPI000004EC92	0		ENST00000229030		ENSG00000111432	4039		36			HGNC	p.G397W		FZD10		SNV							ENST00000539839	protein_coding			PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534		T		T		1771/3281							YES	FZD10,missense_variant,p.Gly397Trp,ENST00000539839,NM_007197.3;FZD10,synonymous_variant,p.=,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,;							LOW	1287/1746		FZD10_HUMAN			Transcript			.	ENSP00000229030		CCDS9267.1			1	
TTF2	0	LGGM	GRCh37	1	117633154	117633154	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	50	4	.	.	ENST00000369466.4:c.2497G>T	p.Val833Leu	p.V833L	ENST00000369466	NM_003594.3	833	Gtg/Ttg	0	1	1	UPI000013CCE7	0	getma.org/pdb.php?prot=TTF2_HUMAN&from=573&to=933&var=V833L	ENST00000369466		ENSG00000116830	12398		54	1.415		HGNC	p.V833L		TTF2		SNV							ENST00000369466	protein_coding	getma.org/?cm=var&var=hg19,1,117633154,G,T&fts=all		Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF573,Superfamily_domains:SSF52540		V/L		T	low	2541/9462		getma.org/?cm=msa&ty=f&p=TTF2_HUMAN&rb=573&re=933&var=V833L	deleterious(0)				YES	TTF2,missense_variant,p.Val833Leu,ENST00000369466,NM_003594.3;MIR942,upstream_gene_variant,,ENST00000401111,;TTF2,upstream_gene_variant,,ENST00000492682,;TTF2,upstream_gene_variant,,ENST00000463696,;							MODERATE	2497/3489	V833L	TTF2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000358478		CCDS892.1			1	
EXOC1	0	LGGM	GRCh37	4	56768573	56768573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000381295.2:c.2401C>A	p.Gln801Lys	p.Q801K	ENST00000381295	NM_001024924.1	801	Caa/Aaa	0	1		UPI000013574F	0	NA	ENST00000346134		ENSG00000090989	30380		46	2.395		HGNC	p.Q801K		EXOC1		SNV							ENST00000381295	protein_coding	getma.org/?cm=var&var=hg19,4,56768573,C,A&fts=all		Pfam_domain:PF09763,hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19		Q/K		A	medium	2534/3357		getma.org/?cm=msa&ty=f&p=EXOC1_HUMAN&rb=170&re=871&var=Q801K	deleterious(0.01)					EXOC1,missense_variant,p.Gln801Lys,ENST00000381295,NM_001024924.1;EXOC1,missense_variant,p.Gln801Lys,ENST00000346134,NM_018261.3;EXOC1,missense_variant,p.Gln786Lys,ENST00000349598,NM_178237.2;EXOC1,non_coding_transcript_exon_variant,,ENST00000511971,;EXOC1,non_coding_transcript_exon_variant,,ENST00000506936,;							MODERATE	2401/2685	Q801K	EXOC1_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000326514		CCDS3502.1			1	
RAD17	0	LGGM	GRCh37	5	68695880	68695880	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	4	.	.	ENST00000509734.1:c.1610G>T	p.Arg537Leu	p.R537L	ENST00000509734		537	cGg/cTg	0	1		UPI000013DD06	0	NA	ENST00000380774		ENSG00000152942	9807		43	1.725		HGNC	p.R526L		RAD17		SNV							ENST00000354312	protein_coding	getma.org/?cm=var&var=hg19,5,68695880,G,T&fts=all		hmmpanther:PTHR12172,TIGRFAM_domain:TIGR00602,Pfam_domain:PF03215		R/L		T	low	1672/2117		getma.org/?cm=msa&ty=f&p=RAD17_HUMAN&rb=83&re=593&var=R537L	deleterious(0.01)	D6RHU1_HUMAN				RAD17,missense_variant,p.Arg537Leu,ENST00000509734,;RAD17,missense_variant,p.Arg526Leu,ENST00000305138,NM_002873.1,NM_001278622.1;RAD17,missense_variant,p.Arg526Leu,ENST00000354868,NM_133338.2;RAD17,missense_variant,p.Arg526Leu,ENST00000361732,NM_133343.1;RAD17,missense_variant,p.Arg526Leu,ENST00000354312,NM_133342.2;RAD17,missense_variant,p.Arg526Leu,ENST00000345306,NM_133344.2;RAD17,missense_variant,p.Arg361Leu,ENST00000358030,NM_133340.2;RAD17,missense_variant,p.Arg361Leu,ENST00000521422,;RAD17,missense_variant,p.Arg440Leu,ENST00000282891,NM_133341.2;RAD17,missense_variant,p.Arg537Leu,ENST00000380774,NM_133339.2;RAD17,missense_variant,p.Arg145Leu,ENST00000513214,;RAD17,intron_variant,,ENST00000504177,;							MODERATE	1610/2046	R537L	RAD17_HUMAN			Transcript		benign(0.392)	.	ENSP00000370151		CCDS4003.1			1	
SEMA5A	0	LGGM	GRCh37	5	9226986	9226986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	70	4	.	.	ENST00000382496.5:c.427C>A	p.Arg143Ser	p.R143S	ENST00000382496	NM_003966.2	143	Cgc/Agc	0	1	1	UPI000004F25D	0	getma.org/pdb.php?prot=SEM5A_HUMAN&from=58&to=468&var=R143S	ENST00000382496		ENSG00000112902	10736		74	2.015		HGNC	p.R143S		SEMA5A		SNV			1				ENST00000513968	protein_coding	getma.org/?cm=var&var=hg19,5,9226986,G,T&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		R/S		T	medium	1093/11762		getma.org/?cm=msa&ty=f&p=SEM5A_HUMAN&rb=58&re=468&var=R143S	deleterious(0)	D6RAF4_HUMAN,B4DE33_HUMAN			YES	SEMA5A,missense_variant,p.Arg143Ser,ENST00000382496,NM_003966.2;SEMA5A,missense_variant,p.Arg143Ser,ENST00000513968,;SEMA5A,missense_variant,p.Arg91Ser,ENST00000514923,;							MODERATE	427/3225	R143S	SEM5A_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000371936		CCDS3875.1			1	
AP5M1	0	LGGM	GRCh37	14	57755523	57755523	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	88	4	.	.	ENST00000261558.3:c.1394G>T	p.Arg465Leu	p.R465L	ENST00000261558	NM_018229.3	465	cGg/cTg	0	1	1	UPI00000719DE	0	NA	ENST00000261558		ENSG00000053770	20192		92	2.36		HGNC	p.R34L		AP5M1		SNV							ENST00000556377	protein_coding	getma.org/?cm=var&var=hg19,14,57755523,G,T&fts=all		Superfamily_domains:0038852,PROSITE_profiles:PS51072,hmmpanther:PTHR16082,hmmpanther:PTHR16082:SF2		R/L		T	medium	1800/3074		getma.org/?cm=msa&ty=f&p=AP5M1_HUMAN&rb=203&re=477&var=R465L	deleterious(0)	H0YIY0_HUMAN,G3V573_HUMAN			YES	AP5M1,missense_variant,p.Arg465Leu,ENST00000261558,NM_018229.3;AP5M1,missense_variant,p.Arg479Leu,ENST00000431972,;AP5M1,downstream_gene_variant,,ENST00000554863,;AP5M1,missense_variant,p.Arg34Leu,ENST00000556377,;							MODERATE	1394/1473	R465L	AP5M1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000261558		CCDS9729.1			1	
TGFB2	0	LGGM	GRCh37	1	218610804	218610804	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	34	4	.	.	ENST00000366929.4:c.1136C>A	p.Pro379Gln	p.P379Q	ENST00000366929	NM_001135599.2	379	cCg/cAg	0	1		UPI000002BEF5	0	getma.org/pdb.php?prot=TGFB2_HUMAN&from=314&to=414&var=P351Q	ENST00000366930		ENSG00000092969	11768		38	3.065		HGNC	p.P379Q		TGFB2		SNV			1				ENST00000366929	protein_coding	getma.org/?cm=var&var=hg19,1,218610804,C,A&fts=all		Superfamily_domains:SSF57501,SMART_domains:SM00204,PIRSF_domain:PIRSF001787,Pfam_domain:PF00019,Gene3D:2.10.90.10,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141,PROSITE_profiles:PS51362		P/Q		A	medium	1519/4969		getma.org/?cm=msa&ty=f&p=TGFB2_HUMAN&rb=314&re=414&var=P351Q	deleterious(0)					TGFB2,missense_variant,p.Pro379Gln,ENST00000366929,NM_001135599.2;TGFB2,missense_variant,p.Pro351Gln,ENST00000366930,NM_003238.3;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;TGFB2,downstream_gene_variant,,ENST00000488793,;							MODERATE	1052/1245	P351Q	TGFB2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355897		CCDS1521.1			1	
PCDHGA6	0	LGGM	GRCh37	5	140754004	140754004	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	90	4	.	.	ENST00000517434.1:c.354C>A	p.Pro118=	p.P118=	ENST00000517434	NM_018919.2	118	ccC/ccA	0	1	1	UPI00000715C8	0		ENST00000517434		ENSG00000253731	8704		94			HGNC	p.P118P	rs549456032	PCDHGA6	6.06E-05	SNV							ENST00000517434	protein_coding		A:0	Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,SMART_domains:SM00112,Superfamily_domains:SSF49313		P		A		354/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN	A:0	A:0	YES	PCDHGA6,synonymous_variant,p.=,ENST00000517434,NM_018919.2,NM_032086.1;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;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;		A:0.0002					LOW	354/2799		PCDG6_HUMAN		A:0	Transcript			.	ENSP00000429601	8.27E-06	CCDS54926.1		A:0.001	1	
HIST1H3D	0	LGGM	GRCh37	6	26197410	26197410	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	4	.	.	ENST00000356476.2:c.69C>T	p.Thr23=	p.T23=	ENST00000356476		23	acC/acT	0	1		UPI00000003C7	0		ENST00000356476		ENSG00000197409	4767		44			HGNC	p.T23T	rs750904441,COSM220159	HIST1H3D	0.000606	SNV						0,1	ENST00000356476	protein_coding			hmmpanther:PTHR11426,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622		T		A		69/411								HIST1H3D,synonymous_variant,p.=,ENST00000377831,NM_003530.4;HIST1H3D,synonymous_variant,p.=,ENST00000356476,;HIST1H2BF,upstream_gene_variant,,ENST00000359985,NM_003522.3;HIST1H2AD,downstream_gene_variant,,ENST00000341023,NM_021065.3;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;					0,1		LOW	69/411		H31_HUMAN			Transcript			common_variant	ENSP00000366999	8.24E-05	CCDS4590.1			1	
IQCC	0	LGGM	GRCh37	1	32673133	32673133	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	4	.	.	ENST00000537469.1:c.1091C>A	p.Pro364Gln	p.P364Q	ENST00000537469	NM_001160042.1	364	cCg/cAg	0	1		UPI000013E040	0	NA	ENST00000291358		ENSG00000160051	25545		42	-0.975		HGNC	p.P284Q		IQCC		SNV							ENST00000291358	protein_coding	getma.org/?cm=var&var=hg19,1,32673133,C,A&fts=all		hmmpanther:PTHR16049		P/Q		A	neutral	872/2027		getma.org/?cm=msa&ty=f&p=IQCC_HUMAN&rb=196&re=395&var=P284Q	tolerated(1)					IQCC,missense_variant,p.Pro364Gln,ENST00000537469,NM_001160042.1;IQCC,missense_variant,p.Pro284Gln,ENST00000291358,NM_018134.2;CCDC28B,downstream_gene_variant,,ENST00000421922,;DCDC2B,upstream_gene_variant,,ENST00000409358,NM_001099434.1;CCDC28B,downstream_gene_variant,,ENST00000373602,NM_024296.3;RP4-622L5.7,upstream_gene_variant,,ENST00000421616,;RP4-622L5.7,upstream_gene_variant,,ENST00000373604,;CCDC28B,downstream_gene_variant,,ENST00000483009,;DCDC2B,upstream_gene_variant,,ENST00000487056,;CCDC28B,downstream_gene_variant,,ENST00000469003,;CCDC28B,downstream_gene_variant,,ENST00000461819,;							MODERATE	851/1401	P284Q	IQCC_HUMAN			Transcript		benign(0.002)	.	ENSP00000291358		CCDS355.1			1	
UNC13A	0	LGGM	GRCh37	19	17785502	17785502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	4	.	.	ENST00000519716.2:c.116G>T	p.Arg39Leu	p.R39L	ENST00000519716	NM_001080421.2	39	cGg/cTg	0	1	1	UPI00006C19A7	0	getma.org/pdb.php?prot=UN13A_HUMAN&from=4&to=79&var=R39L	ENST00000519716		ENSG00000130477	23150		43	1.87		HGNC	p.R39L		UNC13A		SNV			1				ENST00000552293	protein_coding	getma.org/?cm=var&var=hg19,19,17785502,C,A&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10480,SMART_domains:SM00239,Superfamily_domains:SSF49562		R/L		A	low	116/9838		getma.org/?cm=msa&ty=f&p=UN13A_HUMAN&rb=4&re=79&var=R39L	deleterious_low_confidence(0)				YES	UNC13A,missense_variant,p.Arg127Leu,ENST00000428389,;UNC13A,missense_variant,p.Arg39Leu,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Arg39Leu,ENST00000252773,;UNC13A,missense_variant,p.Arg39Leu,ENST00000551649,;UNC13A,missense_variant,p.Arg39Leu,ENST00000552293,;UNC13A,missense_variant,p.Arg39Leu,ENST00000550896,;							MODERATE	116/5112	R39L	UN13A_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000429562		CCDS46013.2			1	
DAPK1	0	LGGM	GRCh37	9	90321915	90321915	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	20	4	.	.	ENST00000408954.3:c.3929G>T	p.Arg1310Leu	p.R1310L	ENST00000408954	NM_004938.2	1310	cGg/cTg	0	1		UPI0000210C2F	0	NA	ENST00000358077		ENSG00000196730	2674		24	1.795		HGNC	p.R1310L		DAPK1		SNV							ENST00000472284	protein_coding	getma.org/?cm=var&var=hg19,9,90321915,G,T&fts=all		Gene3D:1.10.533.10,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF54,SMART_domains:SM00005,Superfamily_domains:SSF47986		R/L		T	low	4112/5743		getma.org/?cm=msa&ty=f&p=DAPK1_HUMAN&rb=1255&re=1340&var=R1310L	deleterious(0)					DAPK1,missense_variant,p.Arg1335Leu,ENST00000469640,;DAPK1,missense_variant,p.Arg1310Leu,ENST00000408954,NM_004938.2;DAPK1,missense_variant,p.Arg1310Leu,ENST00000472284,NM_001288729.1,NM_001288730.1;DAPK1,missense_variant,p.Arg1310Leu,ENST00000358077,NM_001288731.1;DAPK1,missense_variant,p.Arg1244Leu,ENST00000491893,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;							MODERATE	3929/4293	R1310L	DAPK1_HUMAN			Transcript		possibly_damaging(0.478)	.	ENSP00000350785		CCDS43842.1			1	
VCP	0	LGGM	GRCh37	9	35060886	35060886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	46	4	.	.	ENST00000358901.6:c.1394G>T	p.Arg465Leu	p.R465L	ENST00000358901	NM_007126.3	465	cGg/cTg	0	1	1	UPI000005FB2E	0	getma.org/pdb.php?prot=TERA_HUMAN&from=372&to=513&var=R465L	ENST00000358901		ENSG00000165280	12666		50	4.07		HGNC	p.R465L		VCP		SNV			1				ENST00000358901	protein_coding	getma.org/?cm=var&var=hg19,9,35060886,C,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF69,TIGRFAM_domain:TIGR01243		R/L		A	high	2290/4370		getma.org/?cm=msa&ty=f&p=TERA_HUMAN&rb=372&re=513&var=R465L	deleterious(0)	Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN			YES	VCP,missense_variant,p.Arg465Leu,ENST00000358901,NM_007126.3;VCP,downstream_gene_variant,,ENST00000448530,;VCP,downstream_gene_variant,,ENST00000417448,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;VCP,non_coding_transcript_exon_variant,,ENST00000480327,;VCP,upstream_gene_variant,,ENST00000479300,;VCP,upstream_gene_variant,,ENST00000466100,;							MODERATE	1394/2421	R465L	TERA_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000351777		CCDS6573.1			1	
MAMDC4	0	LGGM	GRCh37	9	139750521	139750521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	4	.	.	ENST00000317446.2:c.1640G>T	p.Arg547Leu	p.R547L	ENST00000317446	NM_206920.2	547	cGg/cTg	0	1		UPI0000EE5638	0	NA	ENST00000445819		ENSG00000177943	24083		40	1.995		HGNC	p.R547L		MAMDC4		SNV							ENST00000317446	protein_coding	getma.org/?cm=var&var=hg19,9,139750521,G,T&fts=all		PROSITE_profiles:PS50060,hmmpanther:PTHR23282:SF63,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899		R/L		T	medium	1690/3895		getma.org/?cm=msa&ty=f&p=AEGP_HUMAN&rb=493&re=644&var=R547L	deleterious(0)					MAMDC4,missense_variant,p.Arg547Leu,ENST00000445819,;MAMDC4,missense_variant,p.Arg547Leu,ENST00000317446,NM_206920.2;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;MAMDC4,non_coding_transcript_exon_variant,,ENST00000481327,;MAMDC4,upstream_gene_variant,,ENST00000479475,;							MODERATE	1640/3651	R547L	AEGP_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000411339					1	
NCOR1	0	LGGM	GRCh37	17	16097871	16097871	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	46	4	.	.	ENST00000268712.3:c.13G>T	p.Gly5Cys	p.G5C	ENST00000268712	NM_006311.3	5	Ggt/Tgt	0	1	1	UPI000013D7D5	0	NA	ENST00000268712		ENSG00000141027	7672		50	1.61		HGNC	p.G5C		NCOR1		SNV							ENST00000582357	protein_coding	getma.org/?cm=var&var=hg19,17,16097871,C,A&fts=all		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5		G/C		A	low	271/10720		getma.org/?cm=msa&ty=f&p=NCOR1_HUMAN&rb=1&re=200&var=G5C		Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN			YES	NCOR1,missense_variant,p.Gly5Cys,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Gly5Cys,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Gly5Cys,ENST00000395848,NM_001190438.1;NCOR1,missense_variant,p.Gly5Cys,ENST00000436828,;NCOR1,missense_variant,p.Gly5Cys,ENST00000411510,;NCOR1,missense_variant,p.Gly5Cys,ENST00000582357,;NCOR1,missense_variant,p.Gly5Cys,ENST00000430577,;RN7SL442P,downstream_gene_variant,,ENST00000473804,;NCOR1,downstream_gene_variant,,ENST00000466825,;NCOR1,missense_variant,p.Gly5Cys,ENST00000460276,;NCOR1,non_coding_transcript_exon_variant,,ENST00000585296,;NCOR1,non_coding_transcript_exon_variant,,ENST00000579974,;							MODERATE	13/7323	G5C	NCOR1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000268712		CCDS11175.1			1	
SYNJ1	0	LGGM	GRCh37	21	34018704	34018704	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	34	4	.	.	ENST00000433931.2:c.3363G>T	p.Gln1121His	p.Q1121H	ENST00000433931	NM_003895.3	1121	caG/caT	0	1	1	UPI0001A47572	0	NA	ENST00000433931		ENSG00000159082	11503		38	0.55		HGNC	p.Q1082H		SYNJ1		SNV			1				ENST00000322229	protein_coding	getma.org/?cm=var&var=hg19,21,34018704,C,A&fts=all		hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200		Q/H		A	neutral	3371/4852		getma.org/?cm=msa&ty=f&p=SYNJ1_HUMAN&rb=1010&re=1135&var=Q1082H	tolerated(0.05)	J3KQV8_HUMAN,C9J1Z6_HUMAN			YES	SYNJ1,missense_variant,p.Gln1121His,ENST00000382499,NM_203446.2;SYNJ1,missense_variant,p.Gln1082His,ENST00000357345,NM_001160302.1;SYNJ1,missense_variant,p.Gln1077His,ENST00000382491,NM_001160306.1;SYNJ1,missense_variant,p.Gln1121His,ENST00000433931,NM_003895.3;SYNJ1,missense_variant,p.Gln1082His,ENST00000322229,;SYNJ1,upstream_gene_variant,,ENST00000438952,;SYNJ1,upstream_gene_variant,,ENST00000418301,;SYNJ1,upstream_gene_variant,,ENST00000416083,;SYNJ1,downstream_gene_variant,,ENST00000467445,;							MODERATE	3363/4839	Q1082H				Transcript		benign(0.029)	.	ENSP00000409667		CCDS33539.2			1	
MEF2A	0	LGGM	GRCh37	15	100173373	100173373	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	83	4	.	.	ENST00000354410.5:c.49C>A	p.Arg17=	p.R17=	ENST00000354410	NM_005587.2	17	Cga/Aga	0	1	1	UPI0000073025	0		ENST00000354410		ENSG00000068305	6993		87			HGNC	p.R17R		MEF2A		SNV			1				ENST00000338042	protein_coding			PROSITE_profiles:PS50066,hmmpanther:PTHR11945:SF145,hmmpanther:PTHR11945,PROSITE_patterns:PS00350,Pfam_domain:PF00319,SMART_domains:SM00432,Superfamily_domains:SSF55455,Prints_domain:PR00404		R		A		678/5824				H0YNI2_HUMAN,H0YM62_HUMAN,H0YKY6_HUMAN,D6RJ95_HUMAN			YES	MEF2A,synonymous_variant,p.=,ENST00000354410,NM_005587.2;MEF2A,synonymous_variant,p.=,ENST00000338042,;MEF2A,synonymous_variant,p.=,ENST00000557942,;MEF2A,synonymous_variant,p.=,ENST00000453228,;MEF2A,synonymous_variant,p.=,ENST00000449277,NM_001130928.1,NM_001130926.1;MEF2A,synonymous_variant,p.=,ENST00000557785,NM_001171894.1;MEF2A,synonymous_variant,p.=,ENST00000558812,NM_001130927.1;MEF2A,synonymous_variant,p.=,ENST00000560493,;MEF2A,synonymous_variant,p.=,ENST00000559903,;MEF2A,synonymous_variant,p.=,ENST00000558049,;MEF2A,non_coding_transcript_exon_variant,,ENST00000558856,;MEF2A,non_coding_transcript_exon_variant,,ENST00000558983,;MEF2A,non_coding_transcript_exon_variant,,ENST00000559036,;							LOW	49/1500		MEF2A_HUMAN			Transcript			.	ENSP00000346389		CCDS45362.1			1	
FGF21	0	LGGM	GRCh37	19	49261275	49261275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	67	4	.	.	ENST00000593756.1:c.428C>A	p.Pro143Gln	p.P143Q	ENST00000593756		143	cCg/cAg	0	1		UPI000003BE44	0	getma.org/pdb.php?prot=FGF21_HUMAN&from=45&to=157&var=P143Q	ENST00000222157		ENSG00000105550	3678		71	2.33		HGNC	p.P143Q		FGF21		SNV							ENST00000222157	protein_coding	getma.org/?cm=var&var=hg19,19,49261275,C,A&fts=all		Gene3D:2.80.10.50,PIRSF_domain:PIRSF037961,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF62,SMART_domains:SM00442,Superfamily_domains:SSF50353		P/Q		A	medium	578/883		getma.org/?cm=msa&ty=f&p=FGF21_HUMAN&rb=45&re=157&var=P143Q	deleterious(0)					FGF21,missense_variant,p.Pro143Gln,ENST00000593756,;FGF21,missense_variant,p.Pro143Gln,ENST00000222157,NM_019113.2;FUT1,upstream_gene_variant,,ENST00000310160,NM_000148.3;FUT1,upstream_gene_variant,,ENST00000601931,;FUT1,upstream_gene_variant,,ENST00000601988,;FUT1,upstream_gene_variant,,ENST00000599826,;FUT1,upstream_gene_variant,,ENST00000597220,;							MODERATE	428/630	P143Q	FGF21_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000222157		CCDS12734.1			1	
DNMT3A	0	LGGM	GRCh37	2	25471002	25471002	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	4	.	.	ENST00000264709.3:c.759C>A	p.Pro253=	p.P253=	ENST00000264709	NM_175629.2	253	ccC/ccA	0	1	1	UPI000000DA70	0		ENST00000264709		ENSG00000119772	2978		32			HGNC	p.P64P		DNMT3A		SNV			1				ENST00000380746	protein_coding			hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068		P		T		1097/4380				Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,synonymous_variant,p.=,ENST00000264709,NM_175629.2;DNMT3A,synonymous_variant,p.=,ENST00000321117,NM_022552.4;DNMT3A,synonymous_variant,p.=,ENST00000380746,NM_153759.3;DNMT3A,synonymous_variant,p.=,ENST00000402667,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000496570,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000470983,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,synonymous_variant,p.=,ENST00000380756,;DNMT3A,upstream_gene_variant,,ENST00000474807,;DNMT3A,upstream_gene_variant,,ENST00000484184,;							LOW	759/2739		DNM3A_HUMAN			Transcript			.	ENSP00000264709		CCDS33157.1			1	
ZNF135	0	LGGM	GRCh37	19	58579098	58579098	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	4	.	.	ENST00000401053.4:c.1318G>T	p.Gly440Trp	p.G440W	ENST00000401053	NM_001164529.1	440	Ggg/Tgg	0	1		UPI00001984EC	0	getma.org/pdb.php?prot=ZN135_HUMAN&from=397&to=421&var=G416W	ENST00000313434		ENSG00000176293	12919		49	3.435		HGNC	p.G416W		ZNF135		SNV							ENST00000313434	protein_coding	getma.org/?cm=var&var=hg19,19,58579098,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,SMART_domains:SM00355		G/W		T	medium	1347/3025		getma.org/?cm=msa&ty=f&p=ZN135_HUMAN&rb=377&re=441&var=G416W	deleterious(0)	Q8N9M3_HUMAN				ZNF135,missense_variant,p.Gly374Trp,ENST00000506786,;ZNF135,missense_variant,p.Gly440Trp,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Gly416Trp,ENST00000313434,NM_003436.3;ZNF135,missense_variant,p.Gly428Trp,ENST00000511556,;ZNF135,missense_variant,p.Gly416Trp,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;							MODERATE	1246/1977	G416W	ZN135_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321406					1	
GJD2	0	LGGM	GRCh37	15	35045490	35045490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	23	4	.	.	ENST00000290374.4:c.155T>C	p.Met52Thr	p.M52T	ENST00000290374	NM_020660.2	52	aTg/aCg	0	1	1	UPI00001287E3	0	getma.org/pdb.php?prot=CXD2_HUMAN&from=3&to=110&var=M52T	ENST00000290374		ENSG00000159248	19154		27	1.61		HGNC	p.M52T		GJD2		SNV							ENST00000290374	protein_coding	getma.org/?cm=var&var=hg19,15,35045490,A,G&fts=all		hmmpanther:PTHR11984:SF32,hmmpanther:PTHR11984,Gene3D:2zw3A00,Pfam_domain:PF00029,SMART_domains:SM00037		M/T		G	low	632/2889		getma.org/?cm=msa&ty=f&p=CXD2_HUMAN&rb=3&re=110&var=M52T	tolerated(0.1)				YES	GJD2,missense_variant,p.Met52Thr,ENST00000290374,NM_020660.2;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;							MODERATE	155/966	M52T	CXD2_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000290374		CCDS10040.1			1	
SFRP2	0	LGGM	GRCh37	4	154702635	154702635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	19	4	.	.	ENST00000274063.4:c.856A>G	p.Ile286Val	p.I286V	ENST00000274063	NM_003013.2	286	Atc/Gtc	0	1	1	UPI000004BE89	0	NA	ENST00000274063		ENSG00000145423	10777		23	1.155		HGNC	p.I286V		SFRP2		SNV							ENST00000274063	protein_coding	getma.org/?cm=var&var=hg19,4,154702635,T,C&fts=all		PROSITE_profiles:PS50189,hmmpanther:PTHR11309:SF45,hmmpanther:PTHR11309,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643		I/V		C	low	1141/2032		getma.org/?cm=msa&ty=f&p=SFRP2_HUMAN&rb=187&re=288&var=I286V	tolerated(0.16)	B3KSM5_HUMAN			YES	SFRP2,missense_variant,p.Ile286Val,ENST00000274063,NM_003013.2;							MODERATE	856/888	I286V	SFRP2_HUMAN			Transcript		benign(0.123)	.	ENSP00000274063		CCDS34082.1			1	
WDR52	0	LGGM	GRCh37	3	113115479	113115479	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	37	4	.	.	ENST00000393845.2:c.1665G>T	p.Ala555=	p.A555=	ENST00000393845	NM_001164496.1	555	gcG/gcT	0	1		UPI000006D67B	0		ENST00000295868		ENSG00000206530	25631		41			HGNC	p.A555A		WDR52		SNV							ENST00000295868	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,Superfamily_domains:SSF50978		A		A		1828/3377				C9K0A4_HUMAN				WDR52,synonymous_variant,p.=,ENST00000393845,NM_001164496.1;WDR52,synonymous_variant,p.=,ENST00000295868,NM_018338.3;WDR52,non_coding_transcript_exon_variant,,ENST00000475568,;WDR52,3_prime_UTR_variant,,ENST00000488854,;WDR52,downstream_gene_variant,,ENST00000465186,;							LOW	1665/2949		WDR52_HUMAN			Transcript			.	ENSP00000295868		CCDS2972.1			1	
RBL2	0	LGGM	GRCh37	16	53504331	53504331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	27	4	.	.	ENST00000262133.6:c.2282C>A	p.Pro761His	p.P761H	ENST00000262133	NM_005611.3	761	cCt/cAt	0	1	1	UPI000013D264	0	NA	ENST00000262133		ENSG00000103479	9894		31	2.135		HGNC	p.P761H		RBL2		SNV							ENST00000262133	protein_coding	getma.org/?cm=var&var=hg19,16,53504331,C,A&fts=all		hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8		P/H		A	medium	2419/4906		getma.org/?cm=msa&ty=f&p=RBL2_HUMAN&rb=610&re=809&var=P761H	deleterious(0)	J3KSF7_HUMAN			YES	RBL2,missense_variant,p.Pro761His,ENST00000262133,NM_005611.3;RBL2,intron_variant,,ENST00000544545,;RBL2,downstream_gene_variant,,ENST00000544405,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,downstream_gene_variant,,ENST00000562850,;RBL2,downstream_gene_variant,,ENST00000562837,;							MODERATE	2282/3420	P761H	RBL2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000262133		CCDS10748.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84442350	84442350	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	43	4	.	.	ENST00000286744.5:c.265C>A	p.Arg89=	p.R89=	ENST00000286744	NM_207517.2	89	Cgg/Agg	0	1	1	UPI00001615A5	0		ENST00000286744		ENSG00000156218	14633		47			HGNC	p.R89R	COSM4057433	ADAMTSL3		SNV						1	ENST00000567476	protein_coding			Gene3D:2.20.100.10,Pfam_domain:PF00090,Prints_domain:PR01857,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00209,Superfamily_domains:SSF82895		R		A		489/7336							YES	ADAMTSL3,synonymous_variant,p.=,ENST00000286744,NM_207517.2;ADAMTSL3,synonymous_variant,p.=,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000565653,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000569510,;					1		LOW	265/5076		ATL3_HUMAN			Transcript			.	ENSP00000286744		CCDS10326.1			1	
PIK3CD	0	LGGM	GRCh37	1	9770625	9770625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	58	4	.	.	ENST00000377346.4:c.112C>A	p.Arg38Ser	p.R38S	ENST00000377346	NM_005026.3	38	Cgc/Agc	0	1	1	UPI000013E807	0	getma.org/pdb.php?prot=PK3CD_HUMAN&from=31&to=108&var=R38S	ENST00000377346		ENSG00000171608	8977		62	1.24		HGNC	p.R38S		PIK3CD		SNV			1				ENST00000361110	protein_coding	getma.org/?cm=var&var=hg19,1,9770625,C,A&fts=all		PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Gene3D:3.10.20.90,Pfam_domain:PF02192,SMART_domains:SM00143		R/S		A	low	307/5203		getma.org/?cm=msa&ty=f&p=PK3CD_HUMAN&rb=31&re=108&var=R38S	tolerated(0.16)	B7ZM44_HUMAN			YES	PIK3CD,missense_variant,p.Arg38Ser,ENST00000536656,;PIK3CD,missense_variant,p.Arg38Ser,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Arg38Ser,ENST00000361110,;							MODERATE	112/3135	R38S	PK3CD_HUMAN			Transcript		benign(0.066)	.	ENSP00000366563		CCDS104.1			1	
ZNF746	0	LGGM	GRCh37	7	149191587	149191587	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	62	4	.	.	ENST00000458143.2:c.32C>A	p.Pro11Gln	p.P11Q	ENST00000458143	NM_001163474.1	11	cCg/cAg	0	1		UPI0000352C19	0	NA	ENST00000340622		ENSG00000181220	21948		66	1.1		HGNC	p.P11Q		ZNF746		SNV							ENST00000458143	protein_coding	getma.org/?cm=var&var=hg19,7,149191587,G,T&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13		P/Q		T	low	313/3806		getma.org/?cm=msa&ty=f&p=ZN767_HUMAN&rb=9&re=83&var=P11Q	tolerated(0.21)	Q96N48_HUMAN				ZNF746,missense_variant,p.Pro11Gln,ENST00000461958,;ZNF746,missense_variant,p.Pro11Gln,ENST00000340622,;ZNF746,missense_variant,p.Pro11Gln,ENST00000458143,NM_001163474.1,NM_152557.4;							MODERATE	32/1935	P11Q	ZN746_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000345140		CCDS5897.1			1	
NEUROD6	0	LGGM	GRCh37	7	31377977	31377977	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	37	4	.	.	ENST00000297142.3:c.906G>T	p.Gln302His	p.Q302H	ENST00000297142	NM_022728.3	302	caG/caT	0	1	1	UPI000000D77D	0	NA	ENST00000297142		ENSG00000164600	13804		41	-0.38		HGNC	p.Q302H		NEUROD6		SNV							ENST00000297142	protein_coding	getma.org/?cm=var&var=hg19,7,31377977,C,A&fts=all		PIRSF_domain:PIRSF015618		Q/H		A	neutral	1229/2131		getma.org/?cm=msa&ty=f&p=NDF6_HUMAN&rb=273&re=337&var=Q302H	tolerated(1)				YES	NEUROD6,missense_variant,p.Gln302His,ENST00000297142,NM_022728.3;							MODERATE	906/1014	Q302H	NDF6_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000297142		CCDS5434.1			1	
CPQ	0	LGGM	GRCh37	8	98078298	98078298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000220763.5:c.1115G>T	p.Gly372Val	p.G372V	ENST00000220763	NM_016134.3	372	gGg/gTg	0	1	1	UPI00000706B8	0	getma.org/pdb.php?prot=CBPQ_HUMAN&from=201&to=400&var=G372V	ENST00000220763		ENSG00000104324	16910		46	3.23		HGNC	p.G372V		CPQ		SNV							ENST00000220763	protein_coding	getma.org/?cm=var&var=hg19,8,98078298,G,T&fts=all		Superfamily_domains:SSF53187,Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR12053		G/V		T	medium	1325/1947		getma.org/?cm=msa&ty=f&p=CBPQ_HUMAN&rb=201&re=400&var=G372V	deleterious(0)	E5RJZ7_HUMAN,E5RJP8_HUMAN,E5RJA8_HUMAN,E5RH35_HUMAN			YES	CPQ,missense_variant,p.Gly372Val,ENST00000220763,NM_016134.3;CPQ,missense_variant,p.Gly30Val,ENST00000522617,;CPQ,non_coding_transcript_exon_variant,,ENST00000529551,;CPQ,non_coding_transcript_exon_variant,,ENST00000532528,;							MODERATE	1115/1419	G372V	CBPQ_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000220763		CCDS6273.1			1	
ACE2	0	LGGM	GRCh37	X	15596296	15596296	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	31	4	.	.	ENST00000427411.1:c.1213G>T	p.Gly405Trp	p.G405W	ENST00000427411	NM_021804.2	405	Ggg/Tgg	0	1		UPI000000D907	0	getma.org/pdb.php?prot=ACE2_HUMAN&from=13&to=613&var=G405W	ENST00000252519		ENSG00000130234	13557		35	4.01		HGNC	p.G405W	COSM1731761	ACE2		SNV						1	ENST00000427411	protein_coding	getma.org/?cm=var&var=hg19,X,15596296,C,A&fts=all		hmmpanther:PTHR10514:SF24,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486,Prints_domain:PR00791		G/W		A	high	1316/3393		getma.org/?cm=msa&ty=f&p=ACE2_HUMAN&rb=13&re=613&var=G405W	deleterious(0)					ACE2,missense_variant,p.Gly405Trp,ENST00000427411,NM_021804.2;ACE2,missense_variant,p.Gly405Trp,ENST00000252519,;					1		MODERATE	1213/2418	G405W	ACE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000252519		CCDS14169.1			1	
PGS1	0	LGGM	GRCh37	17	76388615	76388615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	34	4	.	.	ENST00000262764.6:c.202C>A	p.Pro68Thr	p.P68T	ENST00000262764	NM_024419.3	68	Cca/Aca	0	1	1	UPI00000435E5	0	NA	ENST00000262764		ENSG00000087157	30029		38	0.55		HGNC	p.P68T		PGS1		SNV							ENST00000589426	protein_coding	getma.org/?cm=var&var=hg19,17,76388615,C,A&fts=all		hmmpanther:PTHR12586:SF1,hmmpanther:PTHR12586,Superfamily_domains:SSF56024		P/T		A	neutral	228/2201		getma.org/?cm=msa&ty=f&p=PGPS1_HUMAN&rb=1&re=109&var=P68T	deleterious(0.01)				YES	PGS1,missense_variant,p.Pro68Thr,ENST00000262764,NM_024419.3;PGS1,missense_variant,p.Pro68Thr,ENST00000589689,;PGS1,missense_variant,p.Pro67Thr,ENST00000592043,;PGS1,missense_variant,p.Pro52Thr,ENST00000587356,;PGS1,5_prime_UTR_variant,,ENST00000329897,;PGS1,non_coding_transcript_exon_variant,,ENST00000585521,;PGS1,non_coding_transcript_exon_variant,,ENST00000586325,;PGS1,missense_variant,p.Pro68Thr,ENST00000589426,;PGS1,missense_variant,p.Pro55His,ENST00000588169,;PGS1,synonymous_variant,p.=,ENST00000586510,;PGS1,intron_variant,,ENST00000589425,;							MODERATE	202/1671	P68T	PGPS1_HUMAN			Transcript		benign(0.212)	.	ENSP00000262764		CCDS42391.1			1	
NETO2	0	LGGM	GRCh37	16	47117215	47117215	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	71	4	.	.	ENST00000562435.1:c.1495C>A	p.Arg499=	p.R499=	ENST00000562435	NM_018092.4	499	Cga/Aga	0	1	1	UPI000003C718	0		ENST00000562435		ENSG00000171208	14644		75			HGNC	p.R492R		NETO2		SNV							ENST00000303155	protein_coding			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF314		R		T		1880/7481							YES	NETO2,synonymous_variant,p.=,ENST00000562435,NM_018092.4;NETO2,synonymous_variant,p.=,ENST00000303155,NM_001201477.1;NETO2,synonymous_variant,p.=,ENST00000562559,;NETO2,synonymous_variant,p.=,ENST00000564667,;NETO2,downstream_gene_variant,,ENST00000563078,;							LOW	1495/1578		NETO2_HUMAN			Transcript			.	ENSP00000455169		CCDS10727.1			1	
FAT2	0	LGGM	GRCh37	5	150932788	150932788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	4	.	.	ENST00000261800.5:c.4106G>T	p.Gly1369Val	p.G1369V	ENST00000261800	NM_001447.2	1369	gGg/gTg	0	1	1	UPI0000055B22	0	getma.org/pdb.php?prot=FAT2_HUMAN&from=1354&to=1437&var=G1369V	ENST00000261800		ENSG00000086570	3596		45	2.545		HGNC	p.G1369V	rs759936860	FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150932788,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/V		A	medium	4119/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=1354&re=1437&var=G1369V					YES	FAT2,missense_variant,p.Gly1369Val,ENST00000261800,NM_001447.2;							MODERATE	4106/13050	G1369V	FAT2_HUMAN	0.000151		Transcript		possibly_damaging(0.558)	.	ENSP00000261800	8.24E-06	CCDS4317.1			1	
STK16	0	LGGM	GRCh37	2	220113180	220113180	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	65	4	.	.	ENST00000409638.3:c.817A>C	p.Met273Leu	p.M273L	ENST00000409638	NM_001008910.2	273	Atg/Ctg	0	1		UPI0000035BA8	0	getma.org/pdb.php?prot=STK16_HUMAN&from=20&to=290&var=M273L	ENST00000396738		ENSG00000115661	11394		69	-2.365		HGNC	p.M273L		STK16		SNV							ENST00000409638	protein_coding	getma.org/?cm=var&var=hg19,2,220113180,A,C&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR22967:SF55,hmmpanther:PTHR22967,PROSITE_profiles:PS50011		M/L		C	neutral	1239/1673		getma.org/?cm=msa&ty=f&p=STK16_HUMAN&rb=20&re=290&var=M273L	tolerated(0.71)					STK16,missense_variant,p.Met273Leu,ENST00000409638,NM_001008910.2;STK16,missense_variant,p.Met273Leu,ENST00000396738,;STK16,missense_variant,p.Met318Leu,ENST00000409260,;STK16,missense_variant,p.Met241Leu,ENST00000409743,;STK16,missense_variant,p.Met155Leu,ENST00000409516,;GLB1L,upstream_gene_variant,,ENST00000295759,NM_001286423.1;GLB1L,upstream_gene_variant,,ENST00000392089,NM_024506.3;TUBA4A,downstream_gene_variant,,ENST00000392088,NM_001278552.1;GLB1L,upstream_gene_variant,,ENST00000356283,NM_001286427.1;TUBA4A,downstream_gene_variant,,ENST00000248437,NM_006000.2;GLB1L,upstream_gene_variant,,ENST00000409640,NM_001286427.1;TUBA4A,downstream_gene_variant,,ENST00000427737,;GLB1L,upstream_gene_variant,,ENST00000428427,;TUBA4A,downstream_gene_variant,,ENST00000456818,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4A,downstream_gene_variant,,ENST00000398989,;GLB1L,upstream_gene_variant,,ENST00000432839,;TUBA4A,downstream_gene_variant,,ENST00000425551,;GLB1L,upstream_gene_variant,,ENST00000424620,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000485041,;TUBA4B,upstream_gene_variant,,ENST00000473885,;TUBA4A,downstream_gene_variant,,ENST00000498660,;STK16,downstream_gene_variant,,ENST00000486813,;STK16,non_coding_transcript_exon_variant,,ENST00000496443,;STK16,non_coding_transcript_exon_variant,,ENST00000478018,;STK16,downstream_gene_variant,,ENST00000475696,;STK16,downstream_gene_variant,,ENST00000496800,;STK16,downstream_gene_variant,,ENST00000475342,;TUBA4A,downstream_gene_variant,,ENST00000462806,;TUBA4A,downstream_gene_variant,,ENST00000475683,;GLB1L,upstream_gene_variant,,ENST00000447002,;STK16,downstream_gene_variant,,ENST00000491697,;GLB1L,upstream_gene_variant,,ENST00000467548,;STK16,downstream_gene_variant,,ENST00000461417,;							MODERATE	817/918	M273L	STK16_HUMAN			Transcript		benign(0.017)	.	ENSP00000379964		CCDS42822.1			1	
WISP3	0	LGGM	GRCh37	6	112375526	112375526	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	58	4	.	.	ENST00000361714.1:c.20T>C	p.Leu7Pro	p.L7P	ENST00000361714		7	cTc/cCc	0	1		UPI000004E930	0	NA	ENST00000230529		ENSG00000112761	12771		62	0		HGNC	p.L7P		WISP3		SNV			1				ENST00000361714	protein_coding	getma.org/?cm=var&var=hg19,6,112375526,T,C&fts=all						C	neutral	-/1235		getma.org/?cm=msa&ty=f&p=F8WC24_HUMAN&rb=1&re=200&var=L7P		Q3T1A9_HUMAN				WISP3,missense_variant,p.Leu7Pro,ENST00000361714,;WISP3,5_prime_UTR_variant,,ENST00000368666,NM_198239.1;WISP3,intron_variant,,ENST00000604763,;WISP3,intron_variant,,ENST00000230529,NM_003880.3;WISP3,non_coding_transcript_exon_variant,,ENST00000483439,;WISP3,missense_variant,p.Leu7Pro,ENST00000368664,;WISP3,intron_variant,,ENST00000454589,;							MODIFIER	-/1065	L7P	WISP3_HUMAN			Transcript			.	ENSP00000230529		CCDS5098.1			1	
CDC123	0	LGGM	GRCh37	10	12252023	12252023	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	4	.	.	ENST00000281141.4:c.204G>T	p.Gln68His	p.Q68H	ENST00000281141	NM_006023.2	68	caG/caT	0	1	1	UPI000006FE36	0	NA	ENST00000281141		ENSG00000151465	16827		44	1.98		HGNC	p.Q26H		CDC123		SNV							ENST00000455773	protein_coding	getma.org/?cm=var&var=hg19,10,12252023,G,T&fts=all		Pfam_domain:PF07065,PIRSF_domain:PIRSF007807,hmmpanther:PTHR15323,hmmpanther:PTHR15323:SF6		Q/H		T	medium	484/1542		getma.org/?cm=msa&ty=f&p=CD123_HUMAN&rb=14&re=316&var=Q68H	tolerated(0.05)				YES	CDC123,missense_variant,p.Gln68His,ENST00000281141,NM_006023.2;CDC123,missense_variant,p.Gln68His,ENST00000378900,;CDC123,missense_variant,p.Gln68His,ENST00000429258,;CDC123,missense_variant,p.Gln68His,ENST00000442050,;CDC123,splice_region_variant,,ENST00000455773,;							MODERATE	204/1011	Q68H	CD123_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000281141		CCDS7090.1			1	
CENPO	0	LGGM	GRCh37	2	25038575	25038575	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	58	4	.	.	ENST00000380834.2:c.544G>T	p.Glu182Ter	p.E182*	ENST00000380834		182	Gag/Tag	0	1		UPI000006F5F6	0	NA	ENST00000260662		ENSG00000138092	28152		62	0		HGNC	p.E182X		CENPO		SNV							ENST00000260662	protein_coding	getma.org/?cm=var&var=hg19,2,25038575,G,T&fts=all		hmmpanther:PTHR14582,Pfam_domain:PF09496		E/*		T	NA	669/1625		NA						CENPO,stop_gained,p.Glu182Ter,ENST00000380834,;CENPO,stop_gained,p.Glu176Ter,ENST00000473706,NM_001199803.1;CENPO,stop_gained,p.Glu182Ter,ENST00000260662,NM_024322.2;ADCY3,downstream_gene_variant,,ENST00000260600,NM_004036.3;ADCY3,downstream_gene_variant,,ENST00000405392,;ADCY3,downstream_gene_variant,,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000498288,;CENPO,non_coding_transcript_exon_variant,,ENST00000395845,;CENPO,non_coding_transcript_exon_variant,,ENST00000498362,;CENPO,non_coding_transcript_exon_variant,,ENST00000464156,;CENPO,non_coding_transcript_exon_variant,,ENST00000491031,;ADCY3,downstream_gene_variant,,ENST00000485887,;CENPO,downstream_gene_variant,,ENST00000486527,;							HIGH	544/903	E182*	CENPO_HUMAN			Transcript			.	ENSP00000260662		CCDS1714.1			1	
ZW10	0	LGGM	GRCh37	11	113630942	113630942	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	4	.	.	ENST00000200135.3:c.569C>A	p.Pro190Gln	p.P190Q	ENST00000200135	NM_004724.3	190	cCa/cAa	0	1	1	UPI000013C491	0	NA	ENST00000200135		ENSG00000086827	13194		42	2.28		HGNC	p.P190Q		ZW10		SNV							ENST00000535142	protein_coding	getma.org/?cm=var&var=hg19,11,113630942,G,T&fts=all		Pfam_domain:PF06248,hmmpanther:PTHR12205,hmmpanther:PTHR12205:SF0		P/Q		T	medium	714/2992		getma.org/?cm=msa&ty=f&p=ZW10_HUMAN&rb=9&re=621&var=P190Q	deleterious(0)	B4E1J7_HUMAN,A1A528_HUMAN			YES	ZW10,missense_variant,p.Pro190Gln,ENST00000200135,NM_004724.3;ZW10,missense_variant,p.Pro190Gln,ENST00000535142,;ZW10,intron_variant,,ENST00000538209,;							MODERATE	569/2340	P190Q	ZW10_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000200135		CCDS8363.1			1	
CYP4A11	0	LGGM	GRCh37	1	47399870	47399870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	23	4	.	.	ENST00000310638.4:c.1066G>T	p.Gly356Cys	p.G356C	ENST00000310638	NM_000778.3	356	Ggt/Tgt	0	1	1	UPI00001281E4	0	getma.org/pdb.php?prot=CP4AB_HUMAN&from=51&to=505&var=G356C	ENST00000310638		ENSG00000187048	2642		27	2.895		HGNC	p.G356C		CYP4A11		SNV							ENST00000371905	protein_coding	getma.org/?cm=var&var=hg19,1,47399870,C,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF67,Superfamily_domains:SSF48264		G/C		A	medium	1098/2530		getma.org/?cm=msa&ty=f&p=CP4AB_HUMAN&rb=51&re=505&var=G356C	deleterious(0)				YES	CYP4A11,missense_variant,p.Gly356Cys,ENST00000310638,NM_000778.3;CYP4A11,missense_variant,p.Gly357Cys,ENST00000371904,;CYP4A11,missense_variant,p.Gly356Cys,ENST00000371905,;CYP4A11,3_prime_UTR_variant,,ENST00000457840,;CYP4A11,intron_variant,,ENST00000462347,;CYP4A11,non_coding_transcript_exon_variant,,ENST00000496519,;CYP4A11,missense_variant,p.Gly324Cys,ENST00000468629,;CYP4A11,intron_variant,,ENST00000475477,;CYP4A11,intron_variant,,ENST00000465874,;CYP4A11,intron_variant,,ENST00000474458,;							MODERATE	1066/1560	G356C	CP4AB_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000311095		CCDS543.1			1	
IGSF8	0	LGGM	GRCh37	1	160063783	160063783	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	46	4	.	.	ENST00000368086.1:c.621C>A	p.Pro207=	p.P207=	ENST00000368086		207	ccC/ccA	0	1		UPI0000073CBA	0		ENST00000314485		ENSG00000162729	17813		50			HGNC	p.P207P		IGSF8		SNV							ENST00000368086	protein_coding			Gene3D:2.60.40.10,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		T		838/2343				C9J8Z4_HUMAN				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,;							LOW	621/1842		IGSF8_HUMAN			Transcript			.	ENSP00000316664		CCDS1195.1			1	
TARBP1	0	LGGM	GRCh37	1	234596055	234596055	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	64	4	.	.	ENST00000040877.1:c.1487A>G	p.Asn496Ser	p.N496S	ENST00000040877	NM_005646.3	496	aAt/aGt	0	1	1	UPI000006DB0F	0	NA	ENST00000040877		ENSG00000059588	11568		68	-0.4		HGNC	p.N496S		TARBP1		SNV							ENST00000040877	protein_coding	getma.org/?cm=var&var=hg19,1,234596055,T,C&fts=all		PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11		N/S		C	neutral	1487/5130		getma.org/?cm=msa&ty=f&p=TARB1_HUMAN&rb=448&re=647&var=N496S	tolerated(0.96)				YES	TARBP1,missense_variant,p.Asn496Ser,ENST00000040877,NM_005646.3;							MODERATE	1487/4866	N496S	TARB1_HUMAN			Transcript		benign(0.001)	.	ENSP00000040877		CCDS1601.1			1	
SGCA	0	LGGM	GRCh37	17	48247671	48247671	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	25	4	.	.	ENST00000262018.3:c.915C>A	p.Thr305=	p.T305=	ENST00000262018	NM_000023.2	305	acC/acA	0	1	1	UPI0000135907	0		ENST00000262018		ENSG00000108823	10805		29			HGNC	p.T305T		SGCA		SNV			1				ENST00000262018	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF05510,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132		T		A		951/1432							YES	SGCA,synonymous_variant,p.=,ENST00000262018,NM_000023.2;SGCA,synonymous_variant,p.=,ENST00000504073,;SGCA,intron_variant,,ENST00000543315,;SGCA,intron_variant,,ENST00000344627,NM_001135697.1;SGCA,intron_variant,,ENST00000511303,;SGCA,downstream_gene_variant,,ENST00000451235,;RP11-893F2.14,upstream_gene_variant,,ENST00000572855,;SGCA,intron_variant,,ENST00000513942,;HILS1,downstream_gene_variant,,ENST00000504307,;SGCA,upstream_gene_variant,,ENST00000508382,;SGCA,intron_variant,,ENST00000513821,;SGCA,intron_variant,,ENST00000512526,;SGCA,downstream_gene_variant,,ENST00000502555,;SGCA,downstream_gene_variant,,ENST00000514934,;SGCA,upstream_gene_variant,,ENST00000505964,;HILS1,downstream_gene_variant,,ENST00000340499,;HILS1,downstream_gene_variant,,ENST00000545329,;							LOW	915/1164		SGCA_HUMAN			Transcript			.	ENSP00000262018		CCDS32679.1			1	
XPO5	0	LGGM	GRCh37	6	43517302	43517302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	70	4	.	.	ENST00000265351.7:c.1784G>T	p.Arg595Leu	p.R595L	ENST00000265351	NM_020750.2	595	cGg/cTg	0	1	1	UPI000006CC97	0	getma.org/pdb.php?prot=XPO5_HUMAN&from=472&to=671&var=R595L	ENST00000265351		ENSG00000124571	17675		74	1.975		HGNC	p.R595L		XPO5		SNV							ENST00000265351	protein_coding	getma.org/?cm=var&var=hg19,6,43517302,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR11223,hmmpanther:PTHR11223:SF3,Superfamily_domains:SSF48371		R/L		A	medium	1995/5360		getma.org/?cm=msa&ty=f&p=XPO5_HUMAN&rb=472&re=671&var=R595L	deleterious(0)	E2QRM3_HUMAN			YES	XPO5,missense_variant,p.Arg595Leu,ENST00000265351,NM_020750.2;XPO5,downstream_gene_variant,,ENST00000424378,;XPO5,3_prime_UTR_variant,,ENST00000496341,;XPO5,upstream_gene_variant,,ENST00000515657,;XPO5,upstream_gene_variant,,ENST00000398835,;XPO5,upstream_gene_variant,,ENST00000513451,;							MODERATE	1784/3615	R595L	XPO5_HUMAN			Transcript		benign(0.09)	.	ENSP00000265351		CCDS47430.1			1	
ABCA1	0	LGGM	GRCh37	9	107574909	107574909	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000374736.3:c.3996T>G	p.Leu1332=	p.L1332=	ENST00000374736	NM_005502.3	1332	ctT/ctG	0	1	1	UPI000013E441	0		ENST00000374736		ENSG00000165029	29		46			HGNC	p.L1332L		ABCA1		SNV			1				ENST00000374736	protein_coding			hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229		L		C		4391/10494				Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,synonymous_variant,p.=,ENST00000374736,NM_005502.3;							LOW	3996/6786		ABCA1_HUMAN			Transcript			.	ENSP00000363868		CCDS6762.1			1	
IBTK	0	LGGM	GRCh37	6	82949896	82949896	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	4	.	.	ENST00000306270.7:c.308G>T	p.Trp103Leu	p.W103L	ENST00000306270	NM_015525.2	103	tGg/tTg	0	1	1	UPI000041929F	0	getma.org/pdb.php?prot=IBTK_HUMAN&from=22&to=116&var=W103L	ENST00000306270		ENSG00000005700	17853		44	-0.975		HGNC	p.W103L		IBTK		SNV							ENST00000503400	protein_coding	getma.org/?cm=var&var=hg19,6,82949896,C,A&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		W/L		A	neutral	858/6054		getma.org/?cm=msa&ty=f&p=IBTK_HUMAN&rb=22&re=116&var=W103L	tolerated(1)				YES	IBTK,missense_variant,p.Trp103Leu,ENST00000306270,NM_015525.2;IBTK,missense_variant,p.Trp103Leu,ENST00000510291,;IBTK,missense_variant,p.Trp103Leu,ENST00000503631,;IBTK,missense_variant,p.Trp103Leu,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;							MODERATE	308/4062	W103L	IBTK_HUMAN			Transcript		benign(0.006)	.	ENSP00000305721		CCDS34490.1			1	
MECOM	0	LGGM	GRCh37	3	168833903	168833903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	4	.	.	ENST00000264674.3:c.1388G>A	p.Ser463Asn	p.S463N	ENST00000264674	NM_001105077.3	463	aGt/aAt	0	1		UPI000013D551	0	NA	ENST00000468789		ENSG00000085276	3498		43	0		HGNC	p.S463N		MECOM		SNV			1				ENST00000264674	protein_coding	getma.org/?cm=var&var=hg19,3,168833903,C,T&fts=all		hmmpanther:PTHR24393		S/N		T	neutral	1581/3691		getma.org/?cm=msa&ty=f&p=EVI1_HUMAN&rb=240&re=439&var=S398N	tolerated(1)	Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,missense_variant,p.Ser398Asn,ENST00000464456,NM_001164000.1;MECOM,missense_variant,p.Ser463Asn,ENST00000264674,NM_001105077.3;MECOM,missense_variant,p.Ser398Asn,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,missense_variant,p.Ser586Asn,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Ser398Asn,ENST00000468789,NM_001105078.3;MECOM,missense_variant,p.Ser399Asn,ENST00000472280,;MECOM,missense_variant,p.Ser399Asn,ENST00000433243,;MECOM,missense_variant,p.Ser398Asn,ENST00000460814,;MECOM,intron_variant,,ENST00000492586,;MECOM,downstream_gene_variant,,ENST00000461430,;							MODERATE	1193/3156	S398N	EVI1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000419995		CCDS3205.1			1	
ELANE	0	LGGM	GRCh37	19	856062	856062	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	46	4	.	.	ENST00000590230.1:c.702G>T	p.Pro234=	p.P234=	ENST00000590230		234	ccG/ccT	0	1		UPI0000129E6B	0		ENST00000263621		ENSG00000197561	3309		50			HGNC	p.P234P	rs202059602	ELANE		SNV			1				ENST00000590230	protein_coding			Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24257:SF16,hmmpanther:PTHR24257,PROSITE_profiles:PS50240		P		T		740/920	1.52E-05			B2MUD5_HUMAN				ELANE,synonymous_variant,p.=,ENST00000590230,;ELANE,synonymous_variant,p.=,ENST00000263621,NM_001972.2;CFD,upstream_gene_variant,,ENST00000327726,NM_001928.2;CFD,upstream_gene_variant,,ENST00000592860,;							LOW	702/804		ELNE_HUMAN			Transcript			.	ENSP00000263621	8.24E-06	CCDS12045.1			1	
CCDC141	0	LGGM	GRCh37	2	179732866	179732866	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	33	4	.	.	ENST00000420890.2:c.2461C>A	p.His821Asn	p.H821N	ENST00000420890	NM_173648.3	821	Cat/Aat	0	1	1	UPI0000EE2F1C	0	NA	ENST00000420890		ENSG00000163492	26821		37	0.695		HGNC	p.H821N		CCDC141		SNV							ENST00000420890	protein_coding	getma.org/?cm=var&var=hg19,2,179732866,G,T&fts=all		hmmpanther:PTHR19897		H/N		T	neutral	2579/9127		getma.org/?cm=msa&ty=f&p=CC141_HUMAN&rb=2&re=615&var=H246N	tolerated(0.18)	H7C0P1_HUMAN,E7ERF0_HUMAN			YES	CCDC141,missense_variant,p.His821Asn,ENST00000420890,NM_173648.3;CCDC141,missense_variant,p.His265Asn,ENST00000343876,;CCDC141,missense_variant,p.His246Asn,ENST00000295723,;CCDC141,missense_variant,p.His821Asn,ENST00000443758,;CCDC141,downstream_gene_variant,,ENST00000409284,;CCDC141,downstream_gene_variant,,ENST00000446116,;							MODERATE	2461/4593	H246N				Transcript		benign(0.056)	.	ENSP00000395995					1	
DCP1B	0	LGGM	GRCh37	12	2062151	2062151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	43	4	.	.	ENST00000280665.6:c.955G>T	p.Gly319Cys	p.G319C	ENST00000280665	NM_152640.3	319	Ggc/Tgc	0	1	1	UPI000013DC30	0	NA	ENST00000280665		ENSG00000151065	24451		47	1.935		HGNC	p.G319C		DCP1B		SNV							ENST00000280665	protein_coding	getma.org/?cm=var&var=hg19,12,2062151,C,A&fts=all		hmmpanther:PTHR16290:SF1,hmmpanther:PTHR16290		G/C		A	medium	1035/2086		getma.org/?cm=msa&ty=f&p=DCP1B_HUMAN&rb=132&re=331&var=G319C	deleterious(0)				YES	DCP1B,missense_variant,p.Gly319Cys,ENST00000280665,NM_152640.3;DCP1B,missense_variant,p.Gly217Cys,ENST00000397173,;DCP1B,missense_variant,p.Gly193Cys,ENST00000540622,;DCP1B,non_coding_transcript_exon_variant,,ENST00000541700,;DCP1B,non_coding_transcript_exon_variant,,ENST00000536665,;DCP1B,3_prime_UTR_variant,,ENST00000543381,;							MODERATE	955/1854	G319C	DCP1B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000280665		CCDS31727.1			1	
SNX14	0	LGGM	GRCh37	6	86253424	86253424	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	4	.	.	ENST00000314673.3:c.1163C>G	p.Ser388Cys	p.S388C	ENST00000314673	NM_153816.3	388	tCt/tGt	0	1	1	UPI000013F8C8	0	NA	ENST00000314673		ENSG00000135317	14977		32	0.805		HGNC	p.S388C	rs779983862	SNX14		SNV			1				ENST00000369627	protein_coding	getma.org/?cm=var&var=hg19,6,86253424,G,C&fts=all		Superfamily_domains:SSF48097,SMART_domains:SM00315,Pfam_domain:PF00615,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775,PROSITE_profiles:PS50132		S/C		C	low	1340/3486	1.75E-05	getma.org/?cm=msa&ty=f&p=SNX14_HUMAN&rb=336&re=468&var=S388C	tolerated(0.09)	E2QRM8_HUMAN			YES	SNX14,missense_variant,p.Ser388Cys,ENST00000314673,NM_153816.3;SNX14,missense_variant,p.Ser344Cys,ENST00000346348,NM_020468.3;SNX14,missense_variant,p.Ser315Cys,ENST00000515216,;SNX14,missense_variant,p.Ser336Cys,ENST00000505648,;SNX14,missense_variant,p.Ser388Cys,ENST00000369627,;SNX14,missense_variant,p.Ser388Cys,ENST00000513865,;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,,ENST00000506182,;SNX14,downstream_gene_variant,,ENST00000504191,;							MODERATE	1163/2841	S388C	SNX14_HUMAN			Transcript		possibly_damaging(0.684)	.	ENSP00000313121	8.24E-06	CCDS5004.1			1	
SLC36A1	0	LGGM	GRCh37	5	150856298	150856298	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	24	4	.	.	ENST00000243389.3:c.970C>G	p.Leu324Val	p.L324V	ENST00000243389	NM_078483.2	324	Ctc/Gtc	0	1	1	UPI00001A9D3C	0	NA	ENST00000243389		ENSG00000123643	18761		28	4.08		HGNC	p.L83V		SLC36A1		SNV							ENST00000517628	protein_coding	getma.org/?cm=var&var=hg19,5,150856298,C,G&fts=all		hmmpanther:PTHR22950:SF188,hmmpanther:PTHR22950,Pfam_domain:PF01490		L/V		G	high	1193/5781		getma.org/?cm=msa&ty=f&p=S36A1_HUMAN&rb=45&re=457&var=L324V	deleterious(0.02)	H0YB60_HUMAN,E5RI40_HUMAN,E5RHG5_HUMAN,E5RG64_HUMAN,D2Y3F6_HUMAN			YES	SLC36A1,missense_variant,p.Leu324Val,ENST00000243389,NM_078483.2;SLC36A1,missense_variant,p.Leu324Val,ENST00000520701,;SLC36A1,missense_variant,p.Leu324Val,ENST00000521925,;SLC36A1,missense_variant,p.Leu83Val,ENST00000517628,;RNA5SP197,downstream_gene_variant,,ENST00000363357,;SLC36A1,missense_variant,p.Leu51Val,ENST00000522185,;							MODERATE	970/1431	L324V	S36A1_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000243389		CCDS4316.1			1	
MLST8	0	LGGM	GRCh37	16	2258237	2258237	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	47	4	.	.	ENST00000569417.1:c.600G>T	p.Thr200=	p.T200=	ENST00000569417	NM_022372.4	200	acG/acT	0	1		UPI000006D8E8	0		ENST00000397124		ENSG00000167965	24825		51			HGNC	p.T200T		MLST8		SNV							ENST00000565250	protein_coding			Superfamily_domains:SSF50998,Gene3D:2.130.10.10,hmmpanther:PTHR19842,PROSITE_profiles:PS50294		T		T		790/1691				H3BQ74_HUMAN,H3BN58_HUMAN				MLST8,synonymous_variant,p.=,ENST00000569417,NM_022372.4;MLST8,synonymous_variant,p.=,ENST00000564088,NM_001199173.1;MLST8,synonymous_variant,p.=,ENST00000382450,NM_001199175.1;MLST8,synonymous_variant,p.=,ENST00000301724,;MLST8,synonymous_variant,p.=,ENST00000397124,NM_001199174.1;MLST8,synonymous_variant,p.=,ENST00000565250,;MLST8,synonymous_variant,p.=,ENST00000562352,;MLST8,synonymous_variant,p.=,ENST00000569457,;MLST8,intron_variant,,ENST00000301725,;PGP,downstream_gene_variant,,ENST00000333503,NM_001042371.2;BRICD5,downstream_gene_variant,,ENST00000328540,NM_182563.3;BRICD5,downstream_gene_variant,,ENST00000562360,;MLST8,downstream_gene_variant,,ENST00000562479,;MLST8,downstream_gene_variant,,ENST00000563179,;BRICD5,downstream_gene_variant,,ENST00000566018,;RP11-304L19.8,upstream_gene_variant,,ENST00000561544,;AC009065.3,upstream_gene_variant,,ENST00000517149,;MLST8,intron_variant,,ENST00000561651,;MLST8,downstream_gene_variant,,ENST00000565926,;MLST8,downstream_gene_variant,,ENST00000562844,;MLST8,downstream_gene_variant,,ENST00000564319,;MLST8,downstream_gene_variant,,ENST00000562043,;MLST8,3_prime_UTR_variant,,ENST00000565687,;MLST8,3_prime_UTR_variant,,ENST00000570224,;MLST8,3_prime_UTR_variant,,ENST00000565717,;MLST8,3_prime_UTR_variant,,ENST00000567282,;MLST8,3_prime_UTR_variant,,ENST00000563107,;MLST8,non_coding_transcript_exon_variant,,ENST00000568194,;MLST8,non_coding_transcript_exon_variant,,ENST00000568542,;MLST8,non_coding_transcript_exon_variant,,ENST00000562392,;MLST8,non_coding_transcript_exon_variant,,ENST00000563067,;MLST8,non_coding_transcript_exon_variant,,ENST00000565330,;MLST8,non_coding_transcript_exon_variant,,ENST00000562239,;MLST8,intron_variant,,ENST00000566835,;MLST8,downstream_gene_variant,,ENST00000564294,;PGP,downstream_gene_variant,,ENST00000562001,;MLST8,downstream_gene_variant,,ENST00000567623,;MLST8,downstream_gene_variant,,ENST00000564679,;MLST8,downstream_gene_variant,,ENST00000566653,;MLST8,downstream_gene_variant,,ENST00000565269,;MLST8,downstream_gene_variant,,ENST00000562851,;MLST8,downstream_gene_variant,,ENST00000569848,;MLST8,downstream_gene_variant,,ENST00000567928,;BRICD5,downstream_gene_variant,,ENST00000566795,;							LOW	600/981		LST8_HUMAN			Transcript			.	ENSP00000380313		CCDS10462.2			1	
SYNE1	0	LGGM	GRCh37	6	152570314	152570314	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	50	4	.	.	ENST00000367255.5:c.19554C>A	p.Pro6518=	p.P6518=	ENST00000367255	NM_182961.3	6518	ccC/ccA	0	1	1	UPI000204AF58	0		ENST00000367255		ENSG00000131018	17089		54			HGNC	p.P6518P		SYNE1		SNV			1				ENST00000367255	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		P		T		20156/27748							YES	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,synonymous_variant,p.=,ENST00000356820,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;							LOW	19554/26394		SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
BLTP1	0	LGGM	GRCh37	4	123176083	123176083	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	4	.	.	ENST00000264501.4:c.6198G>T	p.Met2066Ile	p.M2066I	ENST00000264501		2066	atG/atT	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		42	1.155		HGNC	p.M2066I		KIAA1109		SNV							ENST00000264501	protein_coding	getma.org/?cm=var&var=hg19,4,123176083,G,T&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		M/I		T	low	6571/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1889&re=2088&var=M2066I		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Met2066Ile,ENST00000264501,;KIAA1109,missense_variant,p.Met2066Ile,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Met2066Ile,ENST00000455637,;KIAA1109,missense_variant,p.Met24Ile,ENST00000419325,;KIAA1109,missense_variant,p.Met639Ile,ENST00000446180,;							MODERATE	6198/15018	M2066I	K1109_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000264501		CCDS43267.1			1	
POLDIP3	0	LGGM	GRCh37	22	42998927	42998927	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	43	4	.	.	ENST00000252115.5:c.299C>A	p.Ser100Tyr	p.S100Y	ENST00000252115	NM_001278657.1	100	tCt/tAt	0	1	1	UPI000006EEA7	0	NA	ENST00000252115		ENSG00000100227	23782		47	2.045		HGNC	p.S100Y		POLDIP3		SNV							ENST00000348657	protein_coding	getma.org/?cm=var&var=hg19,22,42998927,G,T&fts=all		hmmpanther:PTHR19965,hmmpanther:PTHR19965:SF8		S/Y		T	medium	404/3441		getma.org/?cm=msa&ty=f&p=PDIP3_HUMAN&rb=1&re=265&var=S100Y	deleterious(0)	Q96DI9_HUMAN			YES	POLDIP3,missense_variant,p.Ser100Tyr,ENST00000252115,NM_001278657.1,NM_032311.4;POLDIP3,missense_variant,p.Ser100Tyr,ENST00000348657,NM_178136.2;POLDIP3,missense_variant,p.Ser100Tyr,ENST00000339677,;POLDIP3,5_prime_UTR_variant,,ENST00000451060,;POLDIP3,non_coding_transcript_exon_variant,,ENST00000491021,;POLDIP3,non_coding_transcript_exon_variant,,ENST00000463133,;POLDIP3,missense_variant,p.Ser100Tyr,ENST00000445215,;POLDIP3,missense_variant,p.Ser100Tyr,ENST00000454057,;							MODERATE	299/1266	S100Y	PDIP3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000252115		CCDS14038.1			1	
FAM117A	0	LGGM	GRCh37	17	47794908	47794908	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	14	4	.	.	ENST00000240364.2:c.877G>A	p.Ala293Thr	p.A293T	ENST00000240364	NM_030802.3	293	Gcc/Acc	0	1	1	UPI00000503DC	0	NA	ENST00000240364		ENSG00000121104	24179		18	-0.205		HGNC	p.A183T	rs753106696	FAM117A	6.06E-05	SNV							ENST00000511743	protein_coding	getma.org/?cm=var&var=hg19,17,47794908,C,T&fts=all		Pfam_domain:PF15388,hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF7		A/T		T	neutral	957/2365		getma.org/?cm=msa&ty=f&p=F117A_HUMAN&rb=201&re=400&var=A293T	tolerated(0.6)	B7Z7Q3_HUMAN			YES	FAM117A,missense_variant,p.Ala293Thr,ENST00000240364,NM_030802.3;FAM117A,missense_variant,p.Ala21Thr,ENST00000513602,;FAM117A,missense_variant,p.Ala183Thr,ENST00000511743,;FAM117A,downstream_gene_variant,,ENST00000506156,;RP11-613C6.2,intron_variant,,ENST00000512720,;FAM117A,downstream_gene_variant,,ENST00000514018,;FAM117A,downstream_gene_variant,,ENST00000505159,;FAM117A,downstream_gene_variant,,ENST00000515240,;FAM117A,downstream_gene_variant,,ENST00000503855,;FAM117A,downstream_gene_variant,,ENST00000509347,;FAM117A,downstream_gene_variant,,ENST00000503720,;FAM117A,3_prime_UTR_variant,,ENST00000503573,;FAM117A,downstream_gene_variant,,ENST00000514841,;	0.000116						MODERATE	877/1362	A293T	F117A_HUMAN			Transcript		benign(0.003)	.	ENSP00000240364	1.65E-05	CCDS11553.1			1	
PCDHGB4	0	LGGM	GRCh37	5	140768815	140768815	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	63	4	.	.	ENST00000519479.1:c.1364A>T	p.Tyr455Phe	p.Y455F	ENST00000519479	NM_003736.2	455	tAt/tTt	0	1	1	UPI000006F773	0	getma.org/pdb.php?prot=PCDGG_HUMAN&from=455&to=551&var=Y455F	ENST00000519479		ENSG00000253953	8711		67	2.175		HGNC	p.Y455F		PCDHGB4		SNV							ENST00000519479	protein_coding	getma.org/?cm=var&var=hg19,5,140768815,A,T&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,Superfamily_domains:SSF49313		Y/F		T	medium	1364/4578		getma.org/?cm=msa&ty=f&p=PCDGG_HUMAN&rb=455&re=551&var=Y455F	deleterious(0.02)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB4,missense_variant,p.Tyr455Phe,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;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;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;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;							MODERATE	1364/2772	Y455F	PCDGG_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000428288		CCDS54928.1			1	
NDUFS1	0	LGGM	GRCh37	2	206992651	206992651	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	4	.	.	ENST00000455934.2:c.1796C>A	p.Pro599Gln	p.P599Q	ENST00000455934	NM_001199984.1	599	cCa/cAa	0	1		UPI00000702AF	0	getma.org/pdb.php?prot=NDUS1_HUMAN&from=301&to=629&var=P585Q	ENST00000233190		ENSG00000023228	7707		44	3.775		HGNC	p.P474Q		NDUFS1		SNV			1				ENST00000432169	protein_coding	getma.org/?cm=var&var=hg19,2,206992651,G,T&fts=all		hmmpanther:PTHR11615,hmmpanther:PTHR11615:SF115,Gene3D:3.40.50.740,Pfam_domain:PF00384,TIGRFAM_domain:TIGR01973,Superfamily_domains:SSF53706		P/Q		T	high	2021/11819		getma.org/?cm=msa&ty=f&p=NDUS1_HUMAN&rb=301&re=629&var=P585Q	deleterious(0)	E5KRK5_HUMAN,Q9P1A0_HUMAN,C9JPQ5_HUMAN,B4DJ81_HUMAN				NDUFS1,missense_variant,p.Pro585Gln,ENST00000233190,NM_005006.6;NDUFS1,missense_variant,p.Pro528Gln,ENST00000423725,NM_001199983.1;NDUFS1,missense_variant,p.Pro549Gln,ENST00000440274,NM_001199981.1;NDUFS1,missense_variant,p.Pro599Gln,ENST00000455934,NM_001199984.1;NDUFS1,missense_variant,p.Pro585Gln,ENST00000449699,;NDUFS1,missense_variant,p.Pro469Gln,ENST00000457011,;NDUFS1,missense_variant,p.Pro474Gln,ENST00000432169,NM_001199982.1;NDUFS1,non_coding_transcript_exon_variant,,ENST00000498520,;							MODERATE	1754/2184	P585Q	NDUS1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000233190		CCDS2366.1			1	
AHNAK	0	LGGM	GRCh37	11	62291677	62291677	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	4	.	.	ENST00000378024.4:c.10212A>C	p.Lys3404Asn	p.K3404N	ENST00000378024	NM_001620.2	3404	aaA/aaC	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		49	2.545		HGNC	p.K3404N		AHNAK		SNV							ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62291677,T,G&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		K/N		G	medium	10487/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=3401&re=3600&var=K3404N		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Lys3404Asn,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;							MODERATE	10212/17673	K3404N	AHNK_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000367263		CCDS31584.1			1	
DLX5	0	LGGM	GRCh37	7	96653928	96653928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	21	4	.	.	ENST00000222598.4:c.8G>T	p.Gly3Val	p.G3V	ENST00000222598	NM_005221.5	3	gGa/gTa	0	1	1	UPI00001294B7	0	NA	ENST00000222598		ENSG00000105880	2918		25	1.59		HGNC	p.G3V		DLX5		SNV			1				ENST00000222598	protein_coding	getma.org/?cm=var&var=hg19,7,96653928,C,A&fts=all		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF31		G/V		A	low	482/1688		getma.org/?cm=msa&ty=f&p=DLX5_HUMAN&rb=1&re=31&var=G3V	deleterious(0.05)	Q53Y73_HUMAN			YES	DLX5,missense_variant,p.Gly3Val,ENST00000222598,NM_005221.5;DLX5,missense_variant,p.Gly3Val,ENST00000486603,;DLX5,non_coding_transcript_exon_variant,,ENST00000493764,;							MODERATE	8/870	G3V	DLX5_HUMAN			Transcript		benign(0.29)	.	ENSP00000222598		CCDS5647.1			1	
STAT5B	0	LGGM	GRCh37	17	40370266	40370266	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	4	.	.	ENST00000293328.3:c.1072G>T	p.Gly358Trp	p.G358W	ENST00000293328	NM_012448.3	358	Ggg/Tgg	0	1	1	UPI000006F059	0	getma.org/pdb.php?prot=STA5B_HUMAN&from=332&to=583&var=G358W	ENST00000293328		ENSG00000173757	11367		46	1.935		HGNC	p.G358W		STAT5B		SNV			1				ENST00000293328	protein_coding	getma.org/?cm=var&var=hg19,17,40370266,C,A&fts=all		hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417		G/W		A	medium	1241/5103		getma.org/?cm=msa&ty=f&p=STA5B_HUMAN&rb=332&re=583&var=G358W	tolerated(0.07)	C9J4I3_HUMAN			YES	STAT5B,missense_variant,p.Gly358Trp,ENST00000293328,NM_012448.3;STAT5B,non_coding_transcript_exon_variant,,ENST00000468312,;STAT5B,upstream_gene_variant,,ENST00000481517,;STAT5B,upstream_gene_variant,,ENST00000468496,;							MODERATE	1072/2364	G358W	STA5B_HUMAN			Transcript		benign(0.004)	.	ENSP00000293328		CCDS11423.1			1	
CIB1	0	LGGM	GRCh37	15	90775497	90775497	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	25	4	.	.	ENST00000328649.6:c.149G>T	p.Arg50Leu	p.R50L	ENST00000328649	NM_006384.3	50	cGg/cTg	0	1	1	UPI00001506F1	0	getma.org/pdb.php?prot=CIB1_HUMAN&from=1&to=191&var=R50L	ENST00000328649		ENSG00000185043	16920		29	0		HGNC	p.R50L		CIB1		SNV							ENST00000328649	protein_coding	getma.org/?cm=var&var=hg19,15,90775497,C,A&fts=all		Gene3D:1.10.238.10,hmmpanther:PTHR23056,hmmpanther:PTHR23056:SF32,Superfamily_domains:SSF47473		R/L		A	neutral	311/1247		getma.org/?cm=msa&ty=f&p=CIB1_HUMAN&rb=1&re=191&var=R50L	tolerated(0.18)				YES	CIB1,missense_variant,p.Arg50Leu,ENST00000328649,NM_006384.3,NM_001277764.1;SEMA4B,downstream_gene_variant,,ENST00000411539,NM_198925.2;SEMA4B,downstream_gene_variant,,ENST00000332496,NM_020210.3;SEMA4B,downstream_gene_variant,,ENST00000379122,;SEMA4B,downstream_gene_variant,,ENST00000559074,;GDPGP1,upstream_gene_variant,,ENST00000558017,NM_001013657.2;GDPGP1,upstream_gene_variant,,ENST00000559204,;SEMA4B,downstream_gene_variant,,ENST00000559247,;SEMA4B,downstream_gene_variant,,ENST00000559983,;GDPGP1,upstream_gene_variant,,ENST00000558291,;GDPGP1,upstream_gene_variant,,ENST00000561433,;SEMA4B,downstream_gene_variant,,ENST00000558065,;SEMA4B,downstream_gene_variant,,ENST00000560089,;SEMA4B,downstream_gene_variant,,ENST00000561321,;							MODERATE	149/576	R50L	CIB1_HUMAN			Transcript		benign(0.019)	.	ENSP00000333873		CCDS10360.1			1	
ZNF135	0	LGGM	GRCh37	19	58579404	58579404	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	31	4	.	.	ENST00000401053.4:c.1624G>T	p.Gly542Trp	p.G542W	ENST00000401053	NM_001164529.1	542	Ggg/Tgg	0	1		UPI00001984EC	0	getma.org/pdb.php?prot=ZN135_HUMAN&from=508&to=533&var=G518W	ENST00000313434		ENSG00000176293	12919		35	3.625		HGNC	p.G518W		ZNF135		SNV							ENST00000313434	protein_coding	getma.org/?cm=var&var=hg19,19,58579404,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,Superfamily_domains:SSF57667		G/W		T	high	1653/3025		getma.org/?cm=msa&ty=f&p=ZN135_HUMAN&rb=488&re=553&var=G518W	deleterious(0)	Q8N9M3_HUMAN				ZNF135,missense_variant,p.Gly476Trp,ENST00000506786,;ZNF135,missense_variant,p.Gly542Trp,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,missense_variant,p.Gly518Trp,ENST00000313434,NM_003436.3;ZNF135,missense_variant,p.Gly530Trp,ENST00000511556,;ZNF135,missense_variant,p.Gly518Trp,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;							MODERATE	1552/1977	G518W	ZN135_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000321406					1	
TNC	0	LGGM	GRCh37	9	117797540	117797540	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	43	4	.	.	ENST00000350763.4:c.5730C>A	p.Pro1910=	p.P1910=	ENST00000350763	NM_002160.3	1910	ccC/ccA	0	1	1	UPI000013D5BD	0		ENST00000350763		ENSG00000041982	5318		47			HGNC	p.P1273P		TNC		SNV			1				ENST00000537320	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		T		6142/7641				F5H5D6_HUMAN			YES	TNC,synonymous_variant,p.=,ENST00000350763,NM_002160.3;TNC,synonymous_variant,p.=,ENST00000341037,;TNC,synonymous_variant,p.=,ENST00000340094,;TNC,synonymous_variant,p.=,ENST00000423613,;TNC,synonymous_variant,p.=,ENST00000535648,;TNC,synonymous_variant,p.=,ENST00000346706,;TNC,synonymous_variant,p.=,ENST00000345230,;TNC,synonymous_variant,p.=,ENST00000542877,;TNC,synonymous_variant,p.=,ENST00000537320,;TNC,synonymous_variant,p.=,ENST00000544972,;TNC,non_coding_transcript_exon_variant,,ENST00000460345,;TNC,downstream_gene_variant,,ENST00000476680,;TNC,downstream_gene_variant,,ENST00000498724,;							LOW	5730/6606		TENA_HUMAN			Transcript			.	ENSP00000265131		CCDS6811.1			1	
PLCB2	0	LGGM	GRCh37	15	40581021	40581021	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	24	4	.	.	ENST00000260402.3:c.3453C>A	p.Pro1151=	p.P1151=	ENST00000260402	NM_004573.2	1151	ccC/ccA	0	1	1	UPI0000D79B75	0		ENST00000260402		ENSG00000137841	9055		28			HGNC	p.P1151P		PLCB2		SNV							ENST00000260402	protein_coding			hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Pfam_domain:PF08703,Gene3D:1jadA00,Superfamily_domains:0053448		P		T		3703/4616				H0YNI4_HUMAN			YES	PLCB2,synonymous_variant,p.=,ENST00000260402,NM_004573.2;PLCB2,synonymous_variant,p.=,ENST00000557821,NM_001284297.1;PLCB2,synonymous_variant,p.=,ENST00000456256,NM_001284298.1;PLCB2,intron_variant,,ENST00000559671,;PLCB2,synonymous_variant,p.=,ENST00000559618,;PLCB2,3_prime_UTR_variant,,ENST00000558588,;PLCB2,non_coding_transcript_exon_variant,,ENST00000559381,;PLCB2,intron_variant,,ENST00000560009,;PLCB2,intron_variant,,ENST00000558505,;PLCB2,downstream_gene_variant,,ENST00000560701,;PLCB2,downstream_gene_variant,,ENST00000561378,;							LOW	3453/3558		PLCB2_HUMAN			Transcript			.	ENSP00000260402		CCDS42020.1			1	
ARHGEF3	0	LGGM	GRCh37	3	56763513	56763513	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	4	.	.	ENST00000338458.4:c.1462G>T	p.Gly488Trp	p.G488W	ENST00000338458	NM_001128615.1	488	Ggg/Tgg	0	1		UPI0000031493	0	NA	ENST00000296315		ENSG00000163947	683		49	1.935		HGNC	p.G427W	rs139172951	ARHGEF3	6.06E-05	SNV	T:0.0009						ENST00000497267	protein_coding	getma.org/?cm=var&var=hg19,3,56763513,C,A&fts=all		hmmpanther:PTHR22825:SF12,hmmpanther:PTHR22825		G/W	T:0	A	medium	1535/3602		getma.org/?cm=msa&ty=f&p=ARHG3_HUMAN&rb=304&re=503&var=G456W	deleterious_low_confidence(0)					ARHGEF3,missense_variant,p.Gly462Trp,ENST00000413728,NM_001128616.1;ARHGEF3,missense_variant,p.Gly488Trp,ENST00000338458,NM_001128615.1;ARHGEF3,missense_variant,p.Gly456Trp,ENST00000296315,NM_019555.2;ARHGEF3,missense_variant,p.Gly427Trp,ENST00000497267,;ARHGEF3,missense_variant,p.Gly462Trp,ENST00000496106,;ARHGEF3,downstream_gene_variant,,ENST00000495373,;ARHGEF3,3_prime_UTR_variant,,ENST00000465659,;							MODERATE	1366/1581	G456W	ARHG3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000296315	8.24E-06	CCDS2878.1			1	
CDK5RAP2	0	LGGM	GRCh37	9	123249578	123249578	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	73	4	.	.	ENST00000349780.4:c.1620C>T	p.Phe540=	p.F540=	ENST00000349780	NM_018249.5	540	ttC/ttT	0	1	1	UPI0000367673	0		ENST00000349780		ENSG00000136861	18672		77			HGNC	p.F540F		CDK5RAP2		SNV			1				ENST00000360822	protein_coding			hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13		F		A		1800/6228				F8WBJ0_HUMAN,C9K0C9_HUMAN			YES	CDK5RAP2,synonymous_variant,p.=,ENST00000349780,NM_018249.5;CDK5RAP2,synonymous_variant,p.=,ENST00000360822,NM_001272039.1;CDK5RAP2,synonymous_variant,p.=,ENST00000359309,;CDK5RAP2,synonymous_variant,p.=,ENST00000360190,NM_001011649.2;CDK5RAP2,synonymous_variant,p.=,ENST00000480112,;CDK5RAP2,3_prime_UTR_variant,,ENST00000473282,;CDK5RAP2,non_coding_transcript_exon_variant,,ENST00000483412,;							LOW	1620/5682		CK5P2_HUMAN			Transcript			.	ENSP00000343818		CCDS6823.1			1	
PCLO	0	LGGM	GRCh37	7	82764132	82764132	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	86	4	.	.	ENST00000333891.9:c.2734A>G	p.Ile912Val	p.I912V	ENST00000333891	NM_033026.5	912	Att/Gtt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406	8.64E-05	90	1.6		HGNC	p.I912V	rs779018397	PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82764132,T,C&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		I/V		C	low	3072/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=793&re=992&var=I858V					YES	PCLO,missense_variant,p.Ile912Val,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ile912Val,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000461143,;							MODERATE	2734/15429	I858V	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319	8.27E-06	CCDS47630.1			1	
MTERFD2	0	LGGM	GRCh37	2	242038843	242038843	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	4	.	.	ENST00000391980.2:c.488C>A	p.Ser163Tyr	p.S163Y	ENST00000391980	NM_182501.3	163	tCc/tAc	0	1		UPI0000209875	0	getma.org/pdb.php?prot=MTER2_HUMAN&from=69&to=303&var=S163Y	ENST00000241527		ENSG00000122085	28785		49	2.14		HGNC	p.S142Y		MTERFD2		SNV							ENST00000434791	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,242038843,G,T&fts=all		Pfam_domain:PF02536,hmmpanther:PTHR13068,hmmpanther:PTHR13068:SF11,SMART_domains:SM00733		S/Y		T	medium	510/4529		getma.org/?cm=msa&ty=f&p=MTER2_HUMAN&rb=69&re=303&var=S163Y	tolerated(0.05)	C9JX74_HUMAN,B4DFP7_HUMAN				MTERFD2,missense_variant,p.Ser163Tyr,ENST00000391980,NM_182501.3;MTERFD2,missense_variant,p.Ser163Tyr,ENST00000495694,;MTERFD2,missense_variant,p.Ser163Tyr,ENST00000407095,;MTERFD2,missense_variant,p.Ser156Tyr,ENST00000424798,;MTERFD2,missense_variant,p.Ser163Tyr,ENST00000401626,;MTERFD2,missense_variant,p.Ser142Tyr,ENST00000434791,;MTERFD2,intron_variant,,ENST00000406593,;MTERFD2,intron_variant,,ENST00000439144,;SNED1,downstream_gene_variant,,ENST00000310397,NM_001080437.1;SNED1,downstream_gene_variant,,ENST00000405547,;MTERFD2,upstream_gene_variant,,ENST00000414146,;MTERFD2,intron_variant,,ENST00000464344,;MTERFD2,intron_variant,,ENST00000455202,;MTERFD2,intron_variant,,ENST00000480298,;MTERFD2,intron_variant,,ENST00000493169,;MTERFD2,upstream_gene_variant,,ENST00000488567,;MTERFD2,upstream_gene_variant,,ENST00000479205,;MTERFD2,missense_variant,p.Ser163Tyr,ENST00000241527,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000475860,;MTERFD2,intron_variant,,ENST00000476564,;MTERFD2,intron_variant,,ENST00000460915,;MTERFD2,upstream_gene_variant,,ENST00000496878,;							MODERATE	488/1146	S163Y	MTER2_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000241527		CCDS2544.1			1	
DUOX1	0	LGGM	GRCh37	15	45433229	45433229	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	44	4	.	.	ENST00000321429.4:c.1526G>T	p.Arg509Leu	p.R509L	ENST00000321429	NM_017434.3	509	cGg/cTg	0	1	1	UPI000006E50E	0	getma.org/pdb.php?prot=DUOX1_HUMAN&from=29&to=557&var=R509L	ENST00000321429		ENSG00000137857	3062		48	3.76		HGNC	p.R509L		DUOX1		SNV							ENST00000389037	protein_coding	getma.org/?cm=var&var=hg19,15,45433229,G,T&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		R/L		T	high	1933/5738		getma.org/?cm=msa&ty=f&p=DUOX1_HUMAN&rb=29&re=557&var=R509L	deleterious(0)	H0YNR5_HUMAN			YES	DUOX1,missense_variant,p.Arg509Leu,ENST00000321429,NM_017434.3;DUOX1,missense_variant,p.Arg509Leu,ENST00000389037,NM_175940.1;DUOX1,missense_variant,p.Arg155Leu,ENST00000561166,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000558991,;							MODERATE	1526/4656	R509L	DUOX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000317997		CCDS32221.1			1	
DEFA5	0	LGGM	GRCh37	8	6914153	6914153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	33	4	.	.	ENST00000330590.2:c.67C>A	p.Gln23Lys	p.Q23K	ENST00000330590	NM_021010.1	23	Cag/Aag	0	1	1	UPI0000129120	0		ENST00000330590		ENSG00000164816	2764		37			HGNC	p.Q23K		DEFA5		SNV							ENST00000330590	protein_coding			PIRSF_domain:PIRSF001875,Pfam_domain:PF00879,hmmpanther:PTHR11876,hmmpanther:PTHR11876:SF6,Coiled-coils_(Ncoils):Coil		Q/K		T		104/444			tolerated(0.11)				YES	DEFA5,missense_variant,p.Gln23Lys,ENST00000330590,NM_021010.1;							MODERATE	67/285		DEF5_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000329890		CCDS5963.1			1	
USP54	0	LGGM	GRCh37	10	75290064	75290064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	35	4	.	.	ENST00000339859.4:c.1665G>T	p.Trp555Cys	p.W555C	ENST00000339859		555	tgG/tgT	0	1	1	UPI0000DFF136	0	NA	ENST00000339859		ENSG00000166348	23513		39	2.045		HGNC	p.W555C		USP54		SNV							ENST00000408019	protein_coding	getma.org/?cm=var&var=hg19,10,75290064,C,A&fts=all		hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF5		W/C		A	medium	1766/6247		getma.org/?cm=msa&ty=f&p=UBP54_HUMAN&rb=371&re=875&var=W555C	deleterious(0)				YES	USP54,missense_variant,p.Trp555Cys,ENST00000339859,;USP54,missense_variant,p.Trp555Cys,ENST00000408019,NM_152586.3;USP54,missense_variant,p.Trp405Cys,ENST00000428547,;USP54,missense_variant,p.Trp555Cys,ENST00000319786,;USP54,5_prime_UTR_variant,,ENST00000394811,;RNU6-883P,upstream_gene_variant,,ENST00000384597,;USP54,non_coding_transcript_exon_variant,,ENST00000497106,;USP54,non_coding_transcript_exon_variant,,ENST00000480210,;USP54,missense_variant,p.Trp353Cys,ENST00000424265,;USP54,missense_variant,p.Trp130Cys,ENST00000466048,;USP54,missense_variant,p.Trp116Cys,ENST00000418501,;USP54,non_coding_transcript_exon_variant,,ENST00000498143,;							MODERATE	1665/5055	W555C	UBP54_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345216		CCDS7329.2			1	
LMOD2	0	LGGM	GRCh37	7	123296147	123296147	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	57	4	.	.	ENST00000458573.2:c.130C>A	p.Arg44Ser	p.R44S	ENST00000458573	NM_207163.1	44	Cgc/Agc	0	1	1	UPI0001572CCA	0	NA	ENST00000458573		ENSG00000170807	6648		61	1.245		HGNC	p.R44S		LMOD2		SNV							ENST00000456238	protein_coding	getma.org/?cm=var&var=hg19,7,123296147,C,A&fts=all		Pfam_domain:PF03250,hmmpanther:PTHR10901:SF12,hmmpanther:PTHR10901		R/S		A	low	287/2346		getma.org/?cm=msa&ty=f&p=LMOD2_HUMAN&rb=1&re=140&var=R44S	tolerated(0.54)	B4DUL7_HUMAN			YES	LMOD2,missense_variant,p.Arg44Ser,ENST00000458573,NM_207163.1;LMOD2,missense_variant,p.Arg44Ser,ENST00000456238,;							MODERATE	130/1644	R44S	LMOD2_HUMAN			Transcript		possibly_damaging(0.567)	.	ENSP00000411932		CCDS47693.1			1	
ADCY3	0	LGGM	GRCh37	2	25141353	25141353	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	23	4	.	.	ENST00000260600.5:c.504G>T	p.Thr168=	p.T168=	ENST00000260600	NM_004036.3	168	acG/acT	0	1	1	UPI000013D0ED	0		ENST00000260600		ENSG00000138031	234		27			HGNC	p.T168T		ADCY3		SNV							ENST00000435135	protein_coding			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF221		T		A		1356/5050				Q8NBM1_HUMAN,C9J969_HUMAN			YES	ADCY3,synonymous_variant,p.=,ENST00000260600,NM_004036.3;ADCY3,synonymous_variant,p.=,ENST00000435135,;ADCY3,downstream_gene_variant,,ENST00000438445,;							LOW	504/3435		ADCY3_HUMAN			Transcript			.	ENSP00000260600		CCDS1715.1			1	
ARAP2	0	LGGM	GRCh37	4	36168603	36168603	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	56	5	.	.	ENST00000303965.4:c.1924C>A	p.Arg642=	p.R642=	ENST00000303965	NM_015230.3	642	Cga/Aga	0	1	1	UPI000013E917	0		ENST00000303965		ENSG00000047365	16924		61			HGNC	p.R642R	rs772066488	ARAP2		SNV							ENST00000303965	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF228,hmmpanther:PTHR23180,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R		T		2414/7514	4.51E-05			D6RAD6_HUMAN			YES	ARAP2,synonymous_variant,p.=,ENST00000303965,NM_015230.3;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;							LOW	1924/5115		ARAP2_HUMAN			Transcript			.	ENSP00000302895	2.47E-05	CCDS3441.1			1	
TMC1	0	LGGM	GRCh37	9	75441844	75441844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	84	5	.	.	ENST00000297784.5:c.2063G>T	p.Trp688Leu	p.W688L	ENST00000297784	NM_138691.2	688	tGg/tTg	0	1	1	UPI0000161FA9	0	NA	ENST00000297784		ENSG00000165091	16513		89	1.955		HGNC	p.W688L		TMC1		SNV			1				ENST00000297784	protein_coding	getma.org/?cm=var&var=hg19,9,75441844,G,T&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18		W/L		T	medium	2603/3201		getma.org/?cm=msa&ty=f&p=TMC1_HUMAN&rb=631&re=760&var=W688L	tolerated(0.09)				YES	TMC1,missense_variant,p.Trp688Leu,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Trp688Leu,ENST00000340019,;TMC1,missense_variant,p.Trp688Leu,ENST00000396237,;TMC1,non_coding_transcript_exon_variant,,ENST00000486417,;TMC1,non_coding_transcript_exon_variant,,ENST00000469455,;							MODERATE	2063/2283	W688L	TMC1_HUMAN			Transcript		benign(0.013)	.	ENSP00000297784		CCDS6643.1			1	
PKD1L1	0	LGGM	GRCh37	7	47906181	47906181	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	64	5	.	.	ENST00000289672.2:c.3928C>A	p.Leu1310Ile	p.L1310I	ENST00000289672	NM_138295.3	1310	Ctc/Atc	0	1	1	UPI0000130FA9	0	NA	ENST00000289672		ENSG00000158683	18053		69	2.045		HGNC	p.L1310I		PKD1L1		SNV							ENST00000289672	protein_coding	getma.org/?cm=var&var=hg19,7,47906181,G,T&fts=all		Pfam_domain:PF02010,PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32		L/I		T	medium	3979/9092		getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=702&re=1325&var=L1310I	deleterious(0)				YES	PKD1L1,missense_variant,p.Leu1310Ile,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;							MODERATE	3928/8550	L1310I	PK1L1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000289672		CCDS34633.1			1	
ASXL3	0	LGGM	GRCh37	18	31319037	31319037	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	90	5	.	.	ENST00000269197.5:c.1669G>T	p.Glu557Ter	p.E557*	ENST00000269197	NM_030632.1	557	Gaa/Taa	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		95	0		HGNC	p.E557X		ASXL3		SNV			1				ENST00000269197	protein_coding	getma.org/?cm=var&var=hg19,18,31319037,G,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		E/*		T	NA	1669/11344		NA		K7EQY1_HUMAN			YES	ASXL3,stop_gained,p.Glu557Ter,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;							HIGH	1669/6747	E557*	ASXL3_HUMAN			Transcript			.	ENSP00000269197		CCDS45847.1			1	
KCTD7	0	LGGM	GRCh37	7	66104194	66104194	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	5	.	.	ENST00000275532.3:c.845A>G	p.Tyr282Cys	p.Y282C	ENST00000275532	NM_153033.4	282	tAt/tGt	0	1	1	UPI000006E5CB	0	NA	ENST00000275532		ENSG00000243335	21957		45	2.11		HGNC	p.Y282C		KCTD7		SNV			1				ENST00000275532	protein_coding	getma.org/?cm=var&var=hg19,7,66104194,A,G&fts=all		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF60		Y/C		G	medium	1029/4873		getma.org/?cm=msa&ty=f&p=KCTD7_HUMAN&rb=142&re=289&var=Y282C	deleterious(0)					KCTD7,missense_variant,p.Tyr282Cys,ENST00000275532,NM_153033.4,NM_001167961.2;KCTD7,missense_variant,p.Tyr282Cys,ENST00000443322,;KCTD7,downstream_gene_variant,,ENST00000449064,;KCTD7,intron_variant,,ENST00000503687,;							MODERATE	845/870	Y282C	KCTD7_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000275532		CCDS5534.1			1	
IQUB	0	LGGM	GRCh37	7	123143031	123143031	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	92	5	.	.	ENST00000466202.1:c.834C>A	p.Pro278=	p.P278=	ENST00000466202	NM_001282855.1	278	ccC/ccA	0	1		UPI000013E3DF	0		ENST00000324698		ENSG00000164675	21995		97			HGNC	p.P278P		IQUB		SNV							ENST00000469057	protein_coding			hmmpanther:PTHR21074,hmmpanther:PTHR21074:SF0		P		T		1011/2891								IQUB,synonymous_variant,p.=,ENST00000466202,NM_001282855.1;IQUB,synonymous_variant,p.=,ENST00000324698,NM_178827.4;IQUB,synonymous_variant,p.=,ENST00000434450,;IQUB,non_coding_transcript_exon_variant,,ENST00000488987,;IQUB,synonymous_variant,p.=,ENST00000484508,;IQUB,synonymous_variant,p.=,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,;							LOW	834/2376		IQUB_HUMAN			Transcript			.	ENSP00000324882		CCDS5787.1			1	
WDFY3	0	LGGM	GRCh37	4	85626645	85626645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	52	5	.	.	ENST00000295888.4:c.8237C>A	p.Pro2746His	p.P2746H	ENST00000295888	NM_014991.4	2746	cCc/cAc	0	1	1	UPI000013E2C7	0	getma.org/pdb.php?prot=WDFY3_HUMAN&from=2695&to=2976&var=P2746H	ENST00000295888		ENSG00000163625	20751		57	3.56		HGNC	p.P349H		WDFY3		SNV							ENST00000514711	protein_coding	getma.org/?cm=var&var=hg19,4,85626645,G,T&fts=all		Superfamily_domains:SSF81837,SMART_domains:SM01026,Gene3D:1t77A02,Pfam_domain:PF02138,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743,PROSITE_profiles:PS50197		P/H		T	high	8645/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=2695&re=2976&var=P2746H	deleterious(0)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Pro2729His,ENST00000322366,;WDFY3,missense_variant,p.Pro2746His,ENST00000295888,NM_014991.4;WDFY3,missense_variant,p.Pro349His,ENST00000514711,;							MODERATE	8237/10581	P2746H	WDFY3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000295888		CCDS3609.1			1	
PCDHB5	0	LGGM	GRCh37	5	140517341	140517341	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	79	5	.	.	ENST00000231134.5:c.2325C>A	p.Pro775=	p.P775=	ENST00000231134	NM_015669.2	775	ccC/ccA	0	1	1	UPI00001273E1	0		ENST00000231134		ENSG00000113209	8690		84			HGNC	p.P775P		PCDHB5		SNV							ENST00000231134	protein_coding			hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028		P		A		2542/2904							YES	PCDHB5,synonymous_variant,p.=,ENST00000231134,NM_015669.2;							LOW	2325/2388		PCDB5_HUMAN			Transcript			.	ENSP00000231134		CCDS4247.1			1	
CHD8	0	LGGM	GRCh37	14	21860917	21860917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	95	5	.	.	ENST00000399982.2:c.6520G>T	p.Gly2174Trp	p.G2174W	ENST00000399982	NM_001170629.1	2174	Ggg/Tgg	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		100	1.955		HGNC	p.G11W		CHD8		SNV			1				ENST00000553870	protein_coding	getma.org/?cm=var&var=hg19,14,21860917,C,A&fts=all				G/W		A	medium	6585/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=2120&re=2307&var=G2174W	deleterious(0)				YES	CHD8,missense_variant,p.Gly2174Trp,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Gly2174Trp,ENST00000557364,;CHD8,missense_variant,p.Gly1895Trp,ENST00000430710,NM_020920.3;CHD8,missense_variant,p.Gly11Trp,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,;							MODERATE	6520/7746	G2174W	CHD8_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000382863		CCDS53885.1			1	
ANKS1A	0	LGGM	GRCh37	6	34985786	34985786	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	91	5	.	.	ENST00000360359.3:c.1960G>T	p.Gly654Trp	p.G654W	ENST00000360359	NM_015245.2	654	Ggg/Tgg	0	1	1	UPI00001C1E4D	0	NA	ENST00000360359		ENSG00000064999	20961		96	1.67		HGNC	p.G654W		ANKS1A		SNV							ENST00000360359	protein_coding	getma.org/?cm=var&var=hg19,6,34985786,G,T&fts=all		hmmpanther:PTHR24174		G/W		T	low	2098/6336		getma.org/?cm=msa&ty=f&p=ANS1A_HUMAN&rb=459&re=687&var=G654W	deleterious(0)				YES	ANKS1A,missense_variant,p.Gly654Trp,ENST00000360359,NM_015245.2;ANKS1A,intron_variant,,ENST00000535627,;							MODERATE	1960/3405	G654W	ANS1A_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000353518		CCDS4798.1			1	
MDN1	0	LGGM	GRCh37	6	90415810	90415810	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	51	5	.	.	ENST00000369393.3:c.8116C>A	p.Gln2706Lys	p.Q2706K	ENST00000369393		2706	Cag/Aag	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		56	1.04		HGNC	p.Q2706K		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90415810,G,T&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		Q/K		T	low	8232/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=2673&re=2872&var=Q2706K		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Gln2706Lys,ENST00000369393,;MDN1,missense_variant,p.Gln2706Lys,ENST00000428876,NM_014611.1;							MODERATE	8116/16791	Q2706K	MDN1_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000358400		CCDS5024.1			1	
EPHA10	0	LGGM	GRCh37	1	38227125	38227125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	19	5	.	.	ENST00000373048.4:c.802C>T	p.Arg268Cys	p.R268C	ENST00000373048	NM_001099439.1	268	Cgc/Tgc	0	1	1	UPI00001A41BD	0	getma.org/pdb.php?prot=EPHAA_HUMAN&from=212&to=338&var=R268C	ENST00000373048		ENSG00000183317	19987		24	2.555		HGNC	p.R268C	rs778467077,COSM3489242,COSM3489241	EPHA10		SNV						0,1,1	ENST00000427468	protein_coding	getma.org/?cm=var&var=hg19,1,38227125,G,A&fts=all		hmmpanther:PTHR24416:SF267,hmmpanther:PTHR24416,PROSITE_patterns:PS00791,Gene3D:2gy5A03,PIRSF_domain:PIRSF000666		R/C		A	medium	802/5425	1.62E-05	getma.org/?cm=msa&ty=f&p=EPHAA_HUMAN&rb=212&re=338&var=R268C	deleterious(0)				YES	EPHA10,missense_variant,p.Arg268Cys,ENST00000373048,NM_001099439.1;EPHA10,missense_variant,p.Arg268Cys,ENST00000427468,;EPHA10,missense_variant,p.Arg268Cys,ENST00000319637,NM_173641.2;EPHA10,upstream_gene_variant,,ENST00000330210,;EPHA10,upstream_gene_variant,,ENST00000446149,;					0,1,1		MODERATE	802/3027	R268C	EPHAA_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000362139	8.51E-06	CCDS41305.1			1	
FOXN1	0	LGGM	GRCh37	17	26864322	26864322	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	18	5	.	.	ENST00000226247.2:c.1815C>T	p.Ser605=	p.S605=	ENST00000226247	NM_003593.2	605	tcC/tcT	0	1	1	UPI000012ADE6	0		ENST00000226247		ENSG00000109101	12765	8.66E-05	23			HGNC	p.S605S	rs369425799	FOXN1		SNV	T:0		1				ENST00000579795	protein_coding			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF71,Low_complexity_(Seg):seg		S	T:0.0001	T		1844/3436	4.55E-05			J3KRT9_HUMAN			YES	FOXN1,synonymous_variant,p.=,ENST00000226247,NM_003593.2;FOXN1,synonymous_variant,p.=,ENST00000579795,;RP11-192H23.4,intron_variant,,ENST00000481916,;	0.000232						LOW	1815/1947		FOXN1_HUMAN			Transcript			.	ENSP00000226247	4.94E-05	CCDS11232.1			1	
KIF5C	0	LGGM	GRCh37	2	149861938	149861938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	69	5	.	.	ENST00000435030.1:c.2405G>T	p.Arg802Leu	p.R802L	ENST00000435030		802	cGg/cTg	0	1	1	UPI000012DDB7	0		ENST00000435030		ENSG00000168280	6325		74			HGNC	p.R707L		KIF5C		SNV			1				ENST00000414838	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365		R/L		T		2773/6931			deleterious(0)	Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN			YES	KIF5C,missense_variant,p.Arg802Leu,ENST00000435030,;KIF5C,missense_variant,p.Arg707Leu,ENST00000414838,NM_004522.2_dupl6;KIF5C,missense_variant,p.Arg570Leu,ENST00000397413,;KIF5C,non_coding_transcript_exon_variant,,ENST00000464066,;KIF5C,non_coding_transcript_exon_variant,,ENST00000482151,;							MODERATE	2405/2874		KIF5C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000393379					1	
LRRC7	0	LGGM	GRCh37	1	70503849	70503849	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	94	5	.	.	ENST00000035383.5:c.2228G>T	p.Arg743Leu	p.R743L	ENST00000035383	NM_020794.2	743	cGg/cTg	0	1	1	UPI000006F29B	0	NA	ENST00000035383		ENSG00000033122	18531		99	1.5		HGNC	p.R743L	COSM3671821	LRRC7		SNV						1	ENST00000035383	protein_coding	getma.org/?cm=var&var=hg19,1,70503849,G,T&fts=all				R/L		T	low	2258/5000		getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=694&re=1212&var=R743L	deleterious_low_confidence(0.02)				YES	LRRC7,missense_variant,p.Arg748Leu,ENST00000310961,;LRRC7,missense_variant,p.Arg743Leu,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Arg27Leu,ENST00000415775,;					1		MODERATE	2228/4614	R743L	LRRC7_HUMAN			Transcript		benign(0.004)	.	ENSP00000035383		CCDS645.1			1	
RCBTB2	0	LGGM	GRCh37	13	49086955	49086955	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	5	.	.	ENST00000344532.3:c.426C>A	p.Pro142=	p.P142=	ENST00000344532	NM_001268.2	142	ccC/ccA	0	1	1	UPI00000372FA	0		ENST00000344532		ENSG00000136161	1914		47			HGNC	p.P118P		RCBTB2		SNV							ENST00000544904	protein_coding			Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF122,Superfamily_domains:SSF50985		P		T		850/3232							YES	RCBTB2,synonymous_variant,p.=,ENST00000344532,NM_001268.2,NM_001286831.1;RCBTB2,synonymous_variant,p.=,ENST00000430805,;RCBTB2,synonymous_variant,p.=,ENST00000544904,;RCBTB2,intron_variant,,ENST00000544492,;RCBTB2,non_coding_transcript_exon_variant,,ENST00000481144,;							LOW	426/1656		RCBT2_HUMAN			Transcript			.	ENSP00000345144		CCDS9411.1			1	
OR10Q1	0	LGGM	GRCh37	11	57996339	57996339	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	74	5	.	.	ENST00000316770.2:c.9G>T	p.Val3=	p.V3=	ENST00000316770	NM_001004471.2	3	gtG/gtT	0	1	1	UPI0000041C4C	0		ENST00000316770		ENSG00000180475	15134		79			HGNC	p.V3V	COSM1260012	OR10Q1		SNV						1	ENST00000316770	protein_coding					V		A		52/1037							YES	OR10Q1,synonymous_variant,p.=,ENST00000316770,NM_001004471.2;					1		LOW	9/960		O10Q1_HUMAN			Transcript			.	ENSP00000314324		CCDS31547.1			1	
PIAS3	0	LGGM	GRCh37	1	145584546	145584546	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	92	5	.	.	ENST00000393045.2:c.1513G>T	p.Gly505Trp	p.G505W	ENST00000393045	NM_006099.3	505	Ggg/Tgg	0	1	1	UPI0000150636	0	NA	ENST00000393045		ENSG00000131788	16861		97	0		HGNC	p.G505W		PIAS3		SNV							ENST00000393045	protein_coding	getma.org/?cm=var&var=hg19,1,145584546,G,T&fts=all		hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF10		G/W		T	neutral	1603/2901		getma.org/?cm=msa&ty=f&p=PIAS3_HUMAN&rb=373&re=572&var=G505W	deleterious(0.01)	Q6IAR4_HUMAN,E7ESB4_HUMAN,A4CZ08_HUMAN			YES	PIAS3,missense_variant,p.Gly505Trp,ENST00000393045,NM_006099.3;PIAS3,missense_variant,p.Gly470Trp,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,;							MODERATE	1513/1887	G505W	PIAS3_HUMAN			Transcript		possibly_damaging(0.741)	.	ENSP00000376765		CCDS920.2			1	
OR51A4	0	LGGM	GRCh37	11	4967439	4967439	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	84	5	.	.	ENST00000380373.2:c.892A>G	p.Lys298Glu	p.K298E	ENST00000380373	NM_001005329.1	298	Aaa/Gaa	0	1	1	UPI0000047195	0	NA	ENST00000380373		ENSG00000205497	14795		89	3.395		HGNC	p.K298E		OR51A4		SNV							ENST00000380373	protein_coding	getma.org/?cm=var&var=hg19,11,4967439,T,C&fts=all		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF61,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		K/E		C	medium	918/1002		getma.org/?cm=msa&ty=f&p=O51A4_HUMAN&rb=264&re=313&var=K298E	deleterious(0.01)				YES	OR51A4,missense_variant,p.Lys298Glu,ENST00000380373,NM_001005329.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	892/942	K298E	O51A4_HUMAN			Transcript		benign(0.002)	.	ENSP00000369731		CCDS31367.1			1	
PPM1A	0	LGGM	GRCh37	14	60750146	60750146	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	77	5	.	.	ENST00000325642.3:c.944G>T	p.Trp315Leu	p.W315L	ENST00000325642	NM_177952.2	315	tGg/tTg	0	1		UPI00001103E2	0	getma.org/pdb.php?prot=PPM1A_HUMAN&from=22&to=284&var=W242L	ENST00000395076		ENSG00000100614	9275		82	4.29		HGNC	p.W242L	rs751803506	PPM1A		SNV							ENST00000529574	protein_coding	getma.org/?cm=var&var=hg19,14,60750146,G,T&fts=all		Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF262,SMART_domains:SM00332,Superfamily_domains:SSF81606		W/L		T	high	1155/8184		getma.org/?cm=msa&ty=f&p=PPM1A_HUMAN&rb=22&re=284&var=W242L	deleterious(0)	E9PL75_HUMAN,E9PKB5_HUMAN,E9PJN3_HUMAN				PPM1A,missense_variant,p.Trp242Leu,ENST00000395076,NM_021003.4;PPM1A,missense_variant,p.Trp242Leu,ENST00000325658,NM_177951.2;PPM1A,missense_variant,p.Trp315Leu,ENST00000325642,NM_177952.2;PPM1A,missense_variant,p.Trp242Leu,ENST00000529574,;PPM1A,downstream_gene_variant,,ENST00000525399,;PPM1A,downstream_gene_variant,,ENST00000531937,;PPM1A,downstream_gene_variant,,ENST00000528241,;PPM1A,3_prime_UTR_variant,,ENST00000531143,;PPM1A,intron_variant,,ENST00000532036,;							MODERATE	725/1149	W242L	PPM1A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378514		CCDS9744.1			1	
PRDX3	0	LGGM	GRCh37	10	120931937	120931937	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	60	5	.	.	ENST00000298510.2:c.508C>A	p.Arg170=	p.R170=	ENST00000298510	NM_006793.3	170	Cga/Aga	0	1	1	UPI0000000C81	0		ENST00000298510		ENSG00000165672	9354		65			HGNC	p.R152R		PRDX3		SNV							ENST00000356951	protein_coding			Gene3D:3.40.30.10,Pfam_domain:PF00578,PROSITE_profiles:PS51352,hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF101,Superfamily_domains:SSF52833		R		T		551/1584				Q14579_HUMAN			YES	PRDX3,synonymous_variant,p.=,ENST00000298510,NM_006793.3;PRDX3,synonymous_variant,p.=,ENST00000356951,NM_014098.3;PRDX3,upstream_gene_variant,,ENST00000494433,;PRDX3,downstream_gene_variant,,ENST00000463322,;							LOW	508/771		PRDX3_HUMAN			Transcript			.	ENSP00000298510		CCDS7611.1			1	
ACADS	0	LGGM	GRCh37	12	121164850	121164850	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	72	5	.	.	ENST00000242592.4:c.68G>T	p.Arg23Leu	p.R23L	ENST00000242592	NM_000017.2	23	cGg/cTg	0	1	1	UPI000004A863	0	NA	ENST00000242592		ENSG00000122971	90		77	0		HGNC	p.R23L		ACADS		SNV			1				ENST00000242592	protein_coding	getma.org/?cm=var&var=hg19,12,121164850,G,T&fts=all		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,PIRSF_domain:PIRSF016578		R/L		T	neutral	219/1950		getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=1&re=34&var=R23L	deleterious_low_confidence(0.01)	E5KSD5_HUMAN			YES	ACADS,missense_variant,p.Arg23Leu,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Arg23Leu,ENST00000411593,;UNC119B,downstream_gene_variant,,ENST00000344651,NM_001080533.2;MIR4700,downstream_gene_variant,,ENST00000578311,;RP11-173P15.5,upstream_gene_variant,,ENST00000544939,;ACADS,non_coding_transcript_exon_variant,,ENST00000539690,;							MODERATE	68/1239	R23L	ACADS_HUMAN			Transcript		benign(0.131)	.	ENSP00000242592		CCDS9207.1			1	
TMEM236	0	LGGM	GRCh37	10	17813330	17813330	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	5	.	.	ENST00000377495.1:c.280G>A	p.Val94Met	p.V94M	ENST00000377495	NM_001098844.2	94	Gtg/Atg	0	1	1	UPI000041A684	0	NA	ENST00000377495		ENSG00000148483	23473		33	1.87		HGNC	p.V94M	rs532491549	TMEM236		SNV							ENST00000377495	protein_coding	getma.org/?cm=var&var=hg19,10,17813330,G,A&fts=all	A:0	hmmpanther:PTHR31453,hmmpanther:PTHR31453:SF1,Transmembrane_helices:TMhelix		V/M		A	low	324/5464		getma.org/?cm=msa&ty=f&p=TM236_HUMAN&rb=1&re=350&var=V94M	deleterious(0.02)		A:0	A:0.005	YES	TMEM236,missense_variant,p.Val94Met,ENST00000377495,NM_001098844.2;TMEM236,missense_variant,p.Val94Met,ENST00000338221,;	0.00185	A:0.0010					MODERATE	280/1056	V94M	TM236_HUMAN		A:0	Transcript		possibly_damaging(0.847)	common_variant	ENSP00000366715	0.000126	CCDS41492.1		A:0	1	
DNAH7	0	LGGM	GRCh37	2	196723508	196723508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	55	5	.	.	ENST00000312428.6:c.7757A>G	p.Lys2586Arg	p.K2586R	ENST00000312428	NM_018897.2	2586	aAg/aGg	0	1	1	UPI0000141B95	0	NA	ENST00000312428		ENSG00000118997	18661		60	-0.725		HGNC	p.K2586R		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196723508,T,C&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Superfamily_domains:SSF52540		K/R		C	neutral	7858/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=2586&re=2936&var=K2586R	tolerated(0.5)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Lys2586Arg,ENST00000312428,NM_018897.2;							MODERATE	7757/12075	K2586R	DYH7_HUMAN			Transcript		benign(0.004)	.	ENSP00000311273		CCDS42794.1			1	
COLGALT2	0	LGGM	GRCh37	1	183938470	183938470	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	59	5	.	.	ENST00000361927.4:c.765C>A	p.Pro255=	p.P255=	ENST00000361927	NM_015101.2	255	ccC/ccA	0	1	1	UPI000007423A	0		ENST00000361927		ENSG00000198756	16790		64			HGNC	p.P255P		COLGALT2		SNV							ENST00000361927	protein_coding			hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8,Superfamily_domains:SSF53448		P		T		1137/5177				Q5SXQ5_HUMAN,B3KT92_HUMAN			YES	COLGALT2,synonymous_variant,p.=,ENST00000361927,NM_015101.2;COLGALT2,synonymous_variant,p.=,ENST00000546159,;COLGALT2,upstream_gene_variant,,ENST00000367520,;							LOW	765/1881		GT252_HUMAN			Transcript			.	ENSP00000354960		CCDS1360.1			1	
PDZD2	0	LGGM	GRCh37	5	31983709	31983709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	94	5	.	.	ENST00000438447.1:c.925C>A	p.Arg309Ser	p.R309S	ENST00000438447		309	Cgc/Agc	0	1	1	UPI000069648B	0	NA	ENST00000438447		ENSG00000133401	18486		99	0.805		HGNC	p.R309S		PDZD2		SNV							ENST00000438447	protein_coding	getma.org/?cm=var&var=hg19,5,31983709,C,A&fts=all		hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		R/S		A	low	1313/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=201&re=333&var=R309S	deleterious(0)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Arg309Ser,ENST00000438447,;PDZD2,missense_variant,p.Arg309Ser,ENST00000282493,NM_178140.2;PDZD2,downstream_gene_variant,,ENST00000513852,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;							MODERATE	925/8520	R309S	PDZD2_HUMAN			Transcript		benign(0.268)	.	ENSP00000402033		CCDS34137.1			1	
TENM2	0	LGGM	GRCh37	5	167631626	167631626	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	73	5	.	.	ENST00000518659.1:c.3824G>T	p.Arg1275Leu	p.R1275L	ENST00000518659	NM_001122679.1	1275	cGa/cTa	0	1	1	UPI0001C48FC2	0	NA	ENST00000518659		ENSG00000145934	29943		78	2.125		HGNC	p.R1043L		TENM2		SNV							ENST00000520394	protein_coding	getma.org/?cm=var&var=hg19,5,167631626,G,T&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Superfamily_domains:SSF101898		R/L		T	medium	3863/8550		getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=1149&re=1348&var=R1275L	deleterious(0)	G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,missense_variant,p.Arg1154Leu,ENST00000519204,;TENM2,missense_variant,p.Arg1099Leu,ENST00000403607,;TENM2,missense_variant,p.Arg1275Leu,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Arg1275Leu,ENST00000545108,;TENM2,missense_variant,p.Arg1043Leu,ENST00000520394,;							MODERATE	3824/8325	R1275L	TEN2_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000429430					1	
RAC3	0	LGGM	GRCh37	17	79991681	79991681	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	4	5	.	.	ENST00000306897.4:c.555G>A	p.Pro185=	p.P185=	ENST00000306897	NM_005052.2	185	ccG/ccA	0	1	1	UPI00000041DA	0		ENST00000306897		ENSG00000169750	9803		9			HGNC	p.P185P	rs372849049	RAC3		SNV	A:0						ENST00000306897	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF107		P	A:0.0001	A		693/1090	2.47E-05			J3QLK0_HUMAN,J3KSC4_HUMAN			YES	RAC3,synonymous_variant,p.=,ENST00000306897,NM_005052.2;LRRC45,downstream_gene_variant,,ENST00000306688,NM_144999.2;DCXR,downstream_gene_variant,,ENST00000306869,NM_016286.3,NM_001195218.1;RAC3,downstream_gene_variant,,ENST00000580965,;DCXR,downstream_gene_variant,,ENST00000581584,;RAC3,downstream_gene_variant,,ENST00000584341,;DCXR,downstream_gene_variant,,ENST00000582900,;DCXR,downstream_gene_variant,,ENST00000577532,;DCXR,downstream_gene_variant,,ENST00000579155,;DCXR,downstream_gene_variant,,ENST00000577712,;DCXR,downstream_gene_variant,,ENST00000579004,;RP13-650J16.1,upstream_gene_variant,,ENST00000584705,;RP13-650J16.1,upstream_gene_variant,,ENST00000582558,;DCXR,downstream_gene_variant,,ENST00000584318,;DCXR,downstream_gene_variant,,ENST00000577996,;RAC3,non_coding_transcript_exon_variant,,ENST00000585014,;LRRC45,downstream_gene_variant,,ENST00000583302,;DCXR,downstream_gene_variant,,ENST00000579334,;LRRC45,downstream_gene_variant,,ENST00000581227,;DCXR,downstream_gene_variant,,ENST00000580750,;DCXR,downstream_gene_variant,,ENST00000578885,;DCXR,downstream_gene_variant,,ENST00000585085,;DCXR,downstream_gene_variant,,ENST00000580320,;DCXR,downstream_gene_variant,,ENST00000578273,;DCXR,downstream_gene_variant,,ENST00000579842,;DCXR,downstream_gene_variant,,ENST00000582074,;DCXR,downstream_gene_variant,,ENST00000582613,;DCXR,downstream_gene_variant,,ENST00000577286,;LRRC45,downstream_gene_variant,,ENST00000582083,;DCXR,downstream_gene_variant,,ENST00000585164,;DCXR,downstream_gene_variant,,ENST00000579821,;	0.00105						LOW	555/579		RAC3_HUMAN			Transcript			common_variant	ENSP00000304283	4.97E-05	CCDS11798.1			1	
ARFGEF2	0	LGGM	GRCh37	20	47587784	47587784	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	65	5	.	.	ENST00000371917.4:c.1318T>G	p.Leu440Val	p.L440V	ENST00000371917	NM_006420.2	440	Ttg/Gtg	0	1	1	UPI000013D378	0	NA	ENST00000371917		ENSG00000124198	15853		70	2.93		HGNC	p.L440V		ARFGEF2		SNV			1				ENST00000371917	protein_coding	getma.org/?cm=var&var=hg19,20,47587784,T,G&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124,Pfam_domain:PF12783,Superfamily_domains:SSF48371		L/V		G	medium	1318/8852		getma.org/?cm=msa&ty=f&p=BIG2_HUMAN&rb=367&re=530&var=L440V	deleterious(0.01)	Q59FR3_HUMAN			YES	ARFGEF2,missense_variant,p.Leu440Val,ENST00000371917,NM_006420.2;							MODERATE	1318/5358	L440V	BIG2_HUMAN			Transcript		possibly_damaging(0.856)	.	ENSP00000360985		CCDS13411.1			1	
CDH24	0	LGGM	GRCh37	14	23523861	23523861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	5	.	.	ENST00000397359.3:c.638C>A	p.Pro213His	p.P213H	ENST00000397359	NM_022478.3	213	cCc/cAc	0	1		UPI0000190F86	0	getma.org/pdb.php?prot=CAD24_HUMAN&from=155&to=250&var=P213H	ENST00000267383		ENSG00000139880	14265		37	1.155		HGNC	p.P213H		CDH24		SNV							ENST00000487137	protein_coding	getma.org/?cm=var&var=hg19,14,23523861,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF272,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/H		T	low	731/2873		getma.org/?cm=msa&ty=f&p=CAD24_HUMAN&rb=155&re=250&var=P213H	tolerated(0.06)	Q86TS8_HUMAN,Q4VBZ5_HUMAN				CDH24,missense_variant,p.Pro213His,ENST00000397359,NM_022478.3;CDH24,missense_variant,p.Pro213His,ENST00000487137,NM_144985.3;CDH24,missense_variant,p.Pro213His,ENST00000267383,;CDH24,missense_variant,p.Pro213His,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,;							MODERATE	638/2460	P213H	CAD24_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000267383		CCDS9585.1			1	
SCN9A	0	LGGM	GRCh37	2	167141098	167141098	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	81	5	.	.	ENST00000409672.1:c.1839G>T	p.Pro613=	p.P613=	ENST00000409672	NM_002977.3	613	ccG/ccT	0	1		UPI00015E0A2B	0		ENST00000303354		ENSG00000169432	10597		86			HGNC	p.P613P	COSM4133213,COSM4133212	SCN9A		SNV			1			1,1	ENST00000409435	protein_coding			Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28		P		A		2183/9787				E9PBA5_HUMAN				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,;					1,1		LOW	1842/5970					Transcript			.	ENSP00000304748					1	
SLC24A2	0	LGGM	GRCh37	9	19786401	19786401	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	22	5	.	.	ENST00000341998.2:c.464A>T	p.Glu155Val	p.E155V	ENST00000341998	NM_001193288.2	155	gAg/gTg	0	1	1	UPI000004FA46	0	getma.org/pdb.php?prot=NCKX2_HUMAN&from=148&to=280&var=E155V	ENST00000341998		ENSG00000155886	10976		27	2.04		HGNC	p.E155V		SLC24A2		SNV							ENST00000286344	protein_coding	getma.org/?cm=var&var=hg19,9,19786401,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF33,Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367		E/V		A	medium	526/10749		getma.org/?cm=msa&ty=f&p=NCKX2_HUMAN&rb=148&re=280&var=E155V	deleterious(0)				YES	SLC24A2,missense_variant,p.Glu155Val,ENST00000341998,NM_001193288.2,NM_020344.3;SLC24A2,missense_variant,p.Glu155Val,ENST00000286344,;							MODERATE	464/1986	E155V	NCKX2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000344801		CCDS6493.1			1	
RP11-385D13.1	0	LGGM	GRCh37	17	15516085	15516085	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	95	5	.	.	ENST00000395906.3:c.1052C>A	p.Pro351Gln	p.P351Q	ENST00000395906	NM_006382.3	351	cCa/cAa	0	1		UPI000268AF94	0	NA	ENST00000455584		ENSG00000251537			100	2.175		Clone_based_vega_gene	p.P661Q		RP11-385D13.1		SNV							ENST00000455584	protein_coding	getma.org/?cm=var&var=hg19,17,15516085,G,T&fts=all		hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7,Superfamily_domains:SSF81383		P/Q		T	medium	2026/5514		getma.org/?cm=msa&ty=f&p=CDRT1_HUMAN&rb=201&re=400&var=P351Q	tolerated_low_confidence(0.06)	H0Y626_HUMAN,J3QKY5_HUMAN			YES	RP11-385D13.1,missense_variant,p.Pro661Gln,ENST00000455584,;CDRT1,missense_variant,p.Pro351Gln,ENST00000395906,NM_006382.3;CDRT1,missense_variant,p.Pro175Gln,ENST00000261644,;							MODERATE	1982/2862	P351Q				Transcript		probably_damaging(0.998)	.	ENSP00000402644					1	
TNIP1	0	LGGM	GRCh37	5	150416402	150416402	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	51	5	.	.	ENST00000389378.2:c.1344C>A	p.Ala448=	p.A448=	ENST00000389378	NM_001252385.1	448	gcC/gcA	0	1		UPI000000DCDC	0		ENST00000315050		ENSG00000145901	16903		56			HGNC	p.A395A		TNIP1		SNV							ENST00000519339	protein_coding			hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF3		A		T		1454/2785				E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN				TNIP1,synonymous_variant,p.=,ENST00000389378,NM_001252385.1,NM_001258454.1,NM_006058.4,NM_001252393.1;TNIP1,synonymous_variant,p.=,ENST00000315050,NM_001252391.1;TNIP1,synonymous_variant,p.=,ENST00000523338,NM_001252392.1;TNIP1,synonymous_variant,p.=,ENST00000520931,NM_001252386.1;TNIP1,synonymous_variant,p.=,ENST00000521591,;TNIP1,synonymous_variant,p.=,ENST00000522226,NM_001252390.1;TNIP1,synonymous_variant,p.=,ENST00000518977,;TNIP1,synonymous_variant,p.=,ENST00000523200,NM_001258455.1;TNIP1,synonymous_variant,p.=,ENST00000524280,NM_001258456.1;TNIP1,synonymous_variant,p.=,ENST00000517504,;TNIP1,intron_variant,,ENST00000521423,;TNIP1,synonymous_variant,p.=,ENST00000519339,;TNIP1,non_coding_transcript_exon_variant,,ENST00000522574,;TNIP1,upstream_gene_variant,,ENST00000517329,;							LOW	1344/1911		TNIP1_HUMAN			Transcript			.	ENSP00000317891		CCDS34280.1			1	
ZNF462	0	LGGM	GRCh37	9	109690661	109690661	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	44	5	.	.	ENST00000277225.5:c.4468G>T	p.Gly1490Trp	p.G1490W	ENST00000277225		1490	Ggg/Tgg	0	1	1	UPI0000470106	0	NA	ENST00000277225		ENSG00000148143	21684		49	1.04		HGNC	p.G335W		ZNF462		SNV							ENST00000441147	protein_coding	getma.org/?cm=var&var=hg19,9,109690661,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,PROSITE_patterns:PS00028,SMART_domains:SM00355		G/W		T	low	4757/10414		getma.org/?cm=msa&ty=f&p=ZN462_HUMAN&rb=1337&re=1514&var=G1490W		U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,missense_variant,p.Gly1490Trp,ENST00000277225,;ZNF462,missense_variant,p.Gly1490Trp,ENST00000457913,NM_021224.4;ZNF462,missense_variant,p.Gly373Trp,ENST00000374686,;ZNF462,missense_variant,p.Gly335Trp,ENST00000441147,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000542028,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;							MODERATE	4468/7521	G1490W	ZN462_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000277225		CCDS35096.1			1	
PUM2	0	LGGM	GRCh37	2	20451389	20451389	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	86	5	.	.	ENST00000338086.5:c.3152C>A	p.Pro1051Gln	p.P1051Q	ENST00000338086	NM_015317.1	1051	cCg/cAg	0	1	1	UPI0000001665	0	NA	ENST00000338086		ENSG00000055917	14958		91	0.2		HGNC	p.P1051Q		PUM2		SNV							ENST00000403432	protein_coding	getma.org/?cm=var&var=hg19,2,20451389,G,T&fts=all		hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537		P/Q		T	neutral	3175/6112		getma.org/?cm=msa&ty=f&p=PUM2_HUMAN&rb=1022&re=1066&var=P1053Q	tolerated(0.42)	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN			YES	PUM2,missense_variant,p.Pro1053Gln,ENST00000361078,;PUM2,missense_variant,p.Pro1051Gln,ENST00000338086,NM_015317.1,NM_001282752.1;PUM2,missense_variant,p.Pro974Gln,ENST00000319801,NM_001282791.1,NM_001282790.1;PUM2,missense_variant,p.Pro863Gln,ENST00000440577,;PUM2,missense_variant,p.Pro1051Gln,ENST00000403432,;PUM2,missense_variant,p.Pro995Gln,ENST00000536417,;							MODERATE	3152/3195	P1053Q	PUM2_HUMAN			Transcript		benign(0.013)	.	ENSP00000338173		CCDS1698.1			1	
USP25	0	LGGM	GRCh37	21	17203897	17203897	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	40	5	.	.	ENST00000285679.6:c.1942A>G	p.Ser648Gly	p.S648G	ENST00000285679	NM_013396.3	648	Agt/Ggt	0	1	1	UPI000002B680	0	getma.org/pdb.php?prot=UBP25_HUMAN&from=166&to=654&var=S648G	ENST00000285679		ENSG00000155313	12624		45	2.94		HGNC	p.S648G		USP25		SNV							ENST00000285681	protein_coding	getma.org/?cm=var&var=hg19,21,17203897,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		S/G		G	medium	2311/3973		getma.org/?cm=msa&ty=f&p=UBP25_HUMAN&rb=166&re=654&var=S648G	deleterious(0)	Q9HA22_HUMAN			YES	USP25,missense_variant,p.Ser648Gly,ENST00000285681,NM_001283042.1;USP25,missense_variant,p.Ser648Gly,ENST00000400183,NM_001283041.1;USP25,missense_variant,p.Ser648Gly,ENST00000285679,NM_013396.3;USP25,missense_variant,p.Ser177Gly,ENST00000453553,;USP25,intron_variant,,ENST00000351097,;							MODERATE	1942/3168	S648G	UBP25_HUMAN			Transcript		benign(0.142)	.	ENSP00000285679		CCDS33515.1			1	
UBR4	0	LGGM	GRCh37	1	19444333	19444333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	68	5	.	.	ENST00000375254.3:c.10613C>A	p.Pro3538Gln	p.P3538Q	ENST00000375254	NM_020765.2	3538	cCg/cAg	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		73	2.075		HGNC	p.P3538Q		UBR4		SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19444333,G,T&fts=all		hmmpanther:PTHR21725		P/Q		T	medium	10641/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=3531&re=3730&var=P3538Q		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Pro3538Gln,ENST00000375267,;UBR4,missense_variant,p.Pro3538Gln,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Pro3531Gln,ENST00000375217,;UBR4,missense_variant,p.Pro3514Gln,ENST00000375226,;UBR4,5_prime_UTR_variant,,ENST00000375218,;UBR4,downstream_gene_variant,,ENST00000417040,;UBR4,downstream_gene_variant,,ENST00000425413,;							MODERATE	10613/15552	P3538Q	UBR4_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000364403		CCDS189.1			1	
DYM	0	LGGM	GRCh37	18	46783398	46783398	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	20	5	.	.	ENST00000269445.6:c.1442C>G	p.Ala481Gly	p.A481G	ENST00000269445	NM_017653.3	481	gCt/gGt	0	1	1	UPI00001AE953	0	NA	ENST00000269445		ENSG00000141627	21317		25	2.52		HGNC	p.A291G		DYM		SNV			1				ENST00000442713	protein_coding	getma.org/?cm=var&var=hg19,18,46783398,G,C&fts=all		hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742		A/G		C	medium	1900/2703		getma.org/?cm=msa&ty=f&p=DYM_HUMAN&rb=1&re=646&var=A481G	deleterious(0)	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN			YES	DYM,missense_variant,p.Ala481Gly,ENST00000269445,NM_017653.3;DYM,missense_variant,p.Ala291Gly,ENST00000442713,;DYM,missense_variant,p.Ala36Gly,ENST00000582399,;							MODERATE	1442/2010	A481G	DYM_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000269445		CCDS11937.1			1	
CYP3A4	0	LGGM	GRCh37	7	99359750	99359750	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	92	5	.	.	ENST00000336411.2:c.1167C>A	p.Pro389=	p.P389=	ENST00000336411	NM_001202855.2	389	ccC/ccA	0	1	1	UPI000013E0B7	0		ENST00000336411		ENSG00000160868	2637		97			HGNC	p.P389P		CYP3A4		SNV			1				ENST00000336411	protein_coding			hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		P		T		1351/2153				Q9BZM0_HUMAN,Q7Z448_HUMAN,Q6GRK0_HUMAN,B4DPQ5_HUMAN			YES	CYP3A4,synonymous_variant,p.=,ENST00000354593,;CYP3A4,synonymous_variant,p.=,ENST00000336411,NM_001202855.2,NM_017460.5;RP11-757A13.1,upstream_gene_variant,,ENST00000608397,;							LOW	1167/1512		CP3A4_HUMAN			Transcript			.	ENSP00000337915		CCDS5674.1			1	
PAIP2	0	LGGM	GRCh37	5	138704465	138704465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	54	5	.	.	ENST00000394795.2:c.362G>T	p.Gly121Val	p.G121V	ENST00000394795		121	gGg/gTg	0	1		UPI0000049FBF	0	NA	ENST00000265192		ENSG00000120727	17970		59	1.15		HGNC	p.G121V	COSM1671907	PAIP2		SNV						1	ENST00000394795	protein_coding	getma.org/?cm=var&var=hg19,5,138704465,G,T&fts=all		hmmpanther:PTHR13154:SF2,hmmpanther:PTHR13154,Pfam_domain:PF07145		G/V		T	low	537/1459		getma.org/?cm=msa&ty=f&p=PAIP2_HUMAN&rb=87&re=127&var=G121V	deleterious(0)	D6RA77_HUMAN				PAIP2,missense_variant,p.Gly121Val,ENST00000394795,;PAIP2,missense_variant,p.Gly121Val,ENST00000265192,NM_016480.3;PAIP2,missense_variant,p.Gly121Val,ENST00000510080,NM_001033112.1;PAIP2,missense_variant,p.Gly61Val,ENST00000511706,;SLC23A1,intron_variant,,ENST00000353963,NM_152685.3;SLC23A1,intron_variant,,ENST00000348729,NM_005847.4;PAIP2,downstream_gene_variant,,ENST00000507755,;CTB-43P18.1,intron_variant,,ENST00000503553,;PAIP2,non_coding_transcript_exon_variant,,ENST00000511381,;PAIP2,downstream_gene_variant,,ENST00000510409,;PAIP2,downstream_gene_variant,,ENST00000507415,;					1		MODERATE	362/384	G121V	PAIP2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265192		CCDS4211.1			1	
C7orf49	0	LGGM	GRCh37	7	134851461	134851461	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	35	5	.	.	ENST00000393114.3:c.376C>A	p.Gln126Lys	p.Q126K	ENST00000393114		126	Cag/Aag	0	1	1	UPI00003742B5	0	NA	ENST00000393114		ENSG00000122783	22432		40	1.15		HGNC	p.Q126K		C7orf49		SNV							ENST00000393114	protein_coding	getma.org/?cm=var&var=hg19,7,134851461,G,T&fts=all		hmmpanther:PTHR14566,Pfam_domain:PF15325		Q/K		T	low	558/1482		getma.org/?cm=msa&ty=f&p=MRI_HUMAN&rb=43&re=155&var=Q126K	tolerated(0.26)				YES	C7orf49,missense_variant,p.Gln71Lys,ENST00000424142,NM_001243749.1,NM_001243753.1;C7orf49,missense_variant,p.Gln125Lys,ENST00000430372,NM_024033.3,NM_001243751.1;C7orf49,missense_variant,p.Gln126Lys,ENST00000393114,;C7orf49,missense_variant,p.Gln71Lys,ENST00000483029,;TMEM140,downstream_gene_variant,,ENST00000275767,NM_018295.4;RP11-134L10.1,upstream_gene_variant,,ENST00000608819,;C7orf49,non_coding_transcript_exon_variant,,ENST00000472428,;C7orf49,non_coding_transcript_exon_variant,,ENST00000477820,;C7orf49,intron_variant,,ENST00000459937,;C7orf49,downstream_gene_variant,,ENST00000488161,;C7orf49,non_coding_transcript_exon_variant,,ENST00000481410,;C7orf49,downstream_gene_variant,,ENST00000487774,;C7orf49,downstream_gene_variant,,ENST00000486115,;							MODERATE	376/474	Q126K	MRI_HUMAN			Transcript		benign(0.058)	.	ENSP00000376823		CCDS5838.2			1	
PSMC1	0	LGGM	GRCh37	14	90731465	90731465	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	44	5	.	.	ENST00000261303.8:c.646A>G	p.Ile216Val	p.I216V	ENST00000261303	NM_002802.2	216	Ata/Gta	0	1	1	UPI00000041A5	0	getma.org/pdb.php?prot=PRS4_HUMAN&from=201&to=221&var=I216V	ENST00000261303		ENSG00000100764	9547		49	1.09		HGNC	p.I53V		PSMC1		SNV							ENST00000553835	protein_coding	getma.org/?cm=var&var=hg19,14,90731465,A,G&fts=all		Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,hmmpanther:PTHR23073:SF9,hmmpanther:PTHR23073		I/V		G	low	749/1641		getma.org/?cm=msa&ty=f&p=PRS4_HUMAN&rb=171&re=251&var=I216V	tolerated(0.07)	Q53XL8_HUMAN,G3V4X1_HUMAN,B4DR63_HUMAN			YES	PSMC1,missense_variant,p.Ile216Val,ENST00000261303,NM_002802.2;PSMC1,missense_variant,p.Ile143Val,ENST00000543772,;PSMC1,missense_variant,p.Ile53Val,ENST00000553835,;PSMC1,upstream_gene_variant,,ENST00000555787,;PSMC1,downstream_gene_variant,,ENST00000555679,;PSMC1,downstream_gene_variant,,ENST00000557357,;PSMC1,downstream_gene_variant,,ENST00000554624,;							MODERATE	646/1323	I216V	PRS4_HUMAN			Transcript		benign(0.06)	.	ENSP00000261303		CCDS32139.1			1	
MYH1	0	LGGM	GRCh37	17	10404579	10404579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	5	.	.	ENST00000226207.5:c.3586C>A	p.Leu1196Met	p.L1196M	ENST00000226207	NM_005963.3	1196	Ctg/Atg	0	1	1	UPI000013C891	0	NA	ENST00000226207		ENSG00000109061	7567		46	2.575		HGNC	p.L1196M		MYH1		SNV							ENST00000226207	protein_coding	getma.org/?cm=var&var=hg19,17,10404579,G,T&fts=all		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264		L/M		T	medium	3681/6024		getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=1072&re=1930&var=L1196M	deleterious(0.02)				YES	MYH1,missense_variant,p.Leu1196Met,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	3586/5820	L1196M	MYH1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000226207		CCDS11155.1			1	
EBF3	0	LGGM	GRCh37	10	131761741	131761741	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	5	.	.	ENST00000368648.3:c.181A>T	p.Asn61Tyr	p.N61Y	ENST00000368648	NM_001005463.2	61	Aac/Tac	0	1		UPI0000127E28	0	getma.org/pdb.php?prot=COE3_HUMAN&from=1&to=200&var=N61Y	ENST00000355311		ENSG00000108001	19087		37	2.9		HGNC	p.N61Y		EBF3		SNV							ENST00000355311	protein_coding	getma.org/?cm=var&var=hg19,10,131761741,T,A&fts=all		hmmpanther:PTHR10747		N/Y		A	medium	254/2993		getma.org/?cm=msa&ty=f&p=COE3_HUMAN&rb=1&re=200&var=N61Y	deleterious(0)					EBF3,missense_variant,p.Asn61Tyr,ENST00000368648,NM_001005463.2;EBF3,missense_variant,p.Asn61Tyr,ENST00000355311,;							MODERATE	181/1791	N61Y	COE3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000347463					1	
GABRB2	0	LGGM	GRCh37	5	160758089	160758089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	83	5	.	.	ENST00000274547.2:c.878G>T	p.Arg293Leu	p.R293L	ENST00000274547	NM_000813.2	293	cGg/cTg	0	1	1	UPI000002AA29	0	getma.org/pdb.php?prot=GBRB2_HUMAN&from=249&to=507&var=R293L	ENST00000274547		ENSG00000145864	4082		88	1.73		HGNC	p.R293L		GABRB2		SNV							ENST00000520240	protein_coding	getma.org/?cm=var&var=hg19,5,160758089,C,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112		R/L		A	low	1096/7385		getma.org/?cm=msa&ty=f&p=GBRB2_HUMAN&rb=249&re=507&var=R293L	deleterious(0)	D1M715_HUMAN			YES	GABRB2,missense_variant,p.Arg293Leu,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,missense_variant,p.Arg293Leu,ENST00000393959,;GABRB2,missense_variant,p.Arg293Leu,ENST00000520240,;GABRB2,missense_variant,p.Arg293Leu,ENST00000353437,;GABRB2,missense_variant,p.Arg230Leu,ENST00000517901,;GABRB2,missense_variant,p.Arg133Leu,ENST00000517547,;							MODERATE	878/1539	R293L	GBRB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274547		CCDS4355.1			1	
VPS13D	0	LGGM	GRCh37	1	12429607	12429607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	86	5	.	.	ENST00000358136.3:c.10658G>T	p.Trp3553Leu	p.W3553L	ENST00000358136	NM_015378.2	3553	tGg/tTg	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		91	0		HGNC	p.W3528L		VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12429607,G,T&fts=all		hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF06650		W/L		T	neutral	10788/16318		getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=3275&re=3559&var=W3552L		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Trp3553Leu,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Trp3528Leu,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Trp2375Leu,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000496628,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;							MODERATE	10658/13167	W3552L				Transcript		benign(0.004)	.	ENSP00000350854		CCDS30588.1			1	
SMEK1	0	LGGM	GRCh37	14	91948082	91948082	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	5	.	.	ENST00000554684.1:c.753C>A	p.Pro251=	p.P251=	ENST00000554684	NM_001284280.1	251	ccC/ccA	0	1		UPI000037834C	0		ENST00000554943		ENSG00000100796	20219		50			HGNC	p.P251P		SMEK1		SNV							ENST00000337238	protein_coding			Superfamily_domains:SSF48371,Pfam_domain:PF04802,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF3		P		T		869/3369				G3V4R3_HUMAN,G3V231_HUMAN				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,;							LOW	753/2502		P4R3A_HUMAN			Transcript			.	ENSP00000450883					1	
TMIGD1	0	LGGM	GRCh37	17	28645920	28645920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	72	5	.	.	ENST00000328886.4:c.652G>T	p.Gly218Cys	p.G218C	ENST00000328886	NM_206832.1	218	Ggt/Tgt	0	1	1	UPI00001D6918	0	NA	ENST00000328886		ENSG00000182271	32431		77	0		HGNC	p.G218C		TMIGD1		SNV							ENST00000328886	protein_coding	getma.org/?cm=var&var=hg19,17,28645920,C,A&fts=all				G/C		A	neutral	725/1201		getma.org/?cm=msa&ty=f&p=TMIG1_HUMAN&rb=213&re=262&var=G218C	tolerated(0.07)				YES	TMIGD1,missense_variant,p.Gly218Cys,ENST00000328886,NM_206832.1;TMIGD1,intron_variant,,ENST00000538566,;							MODERATE	652/789	G218C	TMIG1_HUMAN			Transcript		benign(0.106)	.	ENSP00000332404		CCDS32605.1			1	
C7	0	LGGM	GRCh37	5	40976891	40976891	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	74	5	.	.	ENST00000313164.9:c.2114G>T	p.Trp705Leu	p.W705L	ENST00000313164	NM_000587.2	705	tGg/tTg	0	1	1	UPI000020CA08	0	getma.org/pdb.php?prot=CO7_HUMAN&from=689&to=843&var=W705L	ENST00000313164		ENSG00000112936	1346		79	2.73		HGNC	p.W705L		C7		SNV			1				ENST00000313164	protein_coding	getma.org/?cm=var&var=hg19,5,40976891,G,T&fts=all		SMART_domains:SM00057		W/L		T	medium	2473/4257		getma.org/?cm=msa&ty=f&p=CO7_HUMAN&rb=689&re=843&var=W705L	deleterious(0)				YES	C7,missense_variant,p.Trp705Leu,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,;							MODERATE	2114/2532	W705L	CO7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000322061		CCDS47201.1			1	
VNN2	0	LGGM	GRCh37	6	133065561	133065561	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	47	5	.	.	ENST00000326499.6:c.1441G>T	p.Gly481Trp	p.G481W	ENST00000326499	NM_004665.2	481	Ggg/Tgg	0	1	1	UPI000014194E	0	NA	ENST00000326499		ENSG00000112303	12706		52	2.5		HGNC	p.G481W		VNN2		SNV							ENST00000326499	protein_coding	getma.org/?cm=var&var=hg19,6,133065561,C,A&fts=all		hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF5,PIRSF_domain:PIRSF011861		G/W		A	medium	1566/2118		getma.org/?cm=msa&ty=f&p=VNN2_HUMAN&rb=426&re=520&var=G481W	deleterious(0)	E9PRD9_HUMAN,E9PL76_HUMAN,E9PK31_HUMAN			YES	VNN2,missense_variant,p.Gly481Trp,ENST00000326499,NM_004665.2;VNN2,missense_variant,p.Gly428Trp,ENST00000525270,NM_078488.1;VNN2,missense_variant,p.Gly260Trp,ENST00000525289,NM_001242350.1;VNN2,3_prime_UTR_variant,,ENST00000392389,;VNN2,3_prime_UTR_variant,,ENST00000422400,;VNN2,3_prime_UTR_variant,,ENST00000418593,;VNN2,3_prime_UTR_variant,,ENST00000525674,;VNN2,3_prime_UTR_variant,,ENST00000532053,;VNN2,3_prime_UTR_variant,,ENST00000528801,;							MODERATE	1441/1563	G481W	VNN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322276		CCDS5161.1			1	
SLC9A2	0	LGGM	GRCh37	2	103274044	103274044	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	19	5	.	.	ENST00000233969.2:c.311T>G	p.Leu104Trp	p.L104W	ENST00000233969	NM_003048.3	104	tTg/tGg	0	1	1	UPI000012FD21	0	NA	ENST00000233969		ENSG00000115616	11072		24	2.795		HGNC	p.L104W		SLC9A2		SNV							ENST00000233969	protein_coding	getma.org/?cm=var&var=hg19,2,103274044,T,G&fts=all		hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840		L/W		G	medium	453/5410		getma.org/?cm=msa&ty=f&p=SL9A2_HUMAN&rb=84&re=485&var=L104W	deleterious(0)				YES	SLC9A2,missense_variant,p.Leu104Trp,ENST00000233969,NM_003048.3;							MODERATE	311/2439	L104W	SL9A2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000233969		CCDS2062.1			1	
SLC19A1	0	LGGM	GRCh37	21	46945787	46945787	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	45	5	.	.	ENST00000311124.4:c.1237A>G	p.Ile413Val	p.I413V	ENST00000311124	NM_194255.2	413	Atc/Gtc	0	1	1	UPI000012AA0F	0	NA	ENST00000311124		ENSG00000173638	10937		50	1.25		HGNC	p.I413V		SLC19A1		SNV			1				ENST00000380010	protein_coding	getma.org/?cm=var&var=hg19,21,46945787,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10686:SF12,hmmpanther:PTHR10686,Gene3D:1.20.1250.20,Pfam_domain:PF01770,TIGRFAM_domain:TIGR00806,PIRSF_domain:PIRSF500793,PIRSF_domain:PIRSF028739,Superfamily_domains:SSF103473		I/V		C	low	1390/3811		getma.org/?cm=msa&ty=f&p=S19A1_HUMAN&rb=23&re=434&var=I413V	tolerated(0.17)	E9PIL5_HUMAN,D3DSM6_HUMAN,C9JKP4_HUMAN,C9J8K6_HUMAN			YES	SLC19A1,missense_variant,p.Ile413Val,ENST00000311124,NM_194255.2;SLC19A1,missense_variant,p.Ile148Val,ENST00000417954,;SLC19A1,missense_variant,p.Ile413Val,ENST00000567670,;SLC19A1,missense_variant,p.Ile413Val,ENST00000380010,NM_001205206.1;SLC19A1,missense_variant,p.Ile373Val,ENST00000485649,NM_001205207.1;							MODERATE	1237/1776	I413V	S19A1_HUMAN			Transcript		benign(0.02)	.	ENSP00000308895		CCDS13725.1			1	
DAB1	0	LGGM	GRCh37	1	57535057	57535057	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	81	5	.	.	ENST00000371236.2:c.639C>A	p.Pro213=	p.P213=	ENST00000371236		213	ccC/ccA	0	1		UPI000040DC2E	0		ENST00000371231		ENSG00000173406	2661		86			HGNC	p.P213P		DAB1		SNV							ENST00000371231	protein_coding			hmmpanther:PTHR11232:SF40,hmmpanther:PTHR11232		P		T		674/1802				Q8NFD0_HUMAN				DAB1,synonymous_variant,p.=,ENST00000371236,;DAB1,synonymous_variant,p.=,ENST00000371234,NM_021080.3;DAB1,synonymous_variant,p.=,ENST00000371231,;DAB1,intron_variant,,ENST00000420954,;DAB1,intron_variant,,ENST00000414851,;DAB1,intron_variant,,ENST00000439789,;DAB1,intron_variant,,ENST00000371232,;DAB1,intron_variant,,ENST00000332102,;DAB1,downstream_gene_variant,,ENST00000371230,;DAB1,non_coding_transcript_exon_variant,,ENST00000485760,;DAB1,downstream_gene_variant,,ENST00000489267,;							LOW	639/1767		DAB1_HUMAN			Transcript			.	ENSP00000360275					1	
HOXD10	0	LGGM	GRCh37	2	176981762	176981762	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	57	5	.	.	ENST00000249501.4:c.201G>T	p.Met67Ile	p.M67I	ENST00000249501	NM_002148.3	67	atG/atT	0	1	1	UPI000013CC87	0	NA	ENST00000249501		ENSG00000128710	5133		62	2.4		HGNC	p.M67I		HOXD10		SNV			1				ENST00000249501	protein_coding	getma.org/?cm=var&var=hg19,2,176981762,G,T&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF49		M/I		T	medium	456/1989		getma.org/?cm=msa&ty=f&p=HXD10_HUMAN&rb=1&re=222&var=M67I	tolerated(0.1)				YES	HOXD10,missense_variant,p.Met67Ile,ENST00000249501,NM_002148.3;HOXD-AS2,downstream_gene_variant,,ENST00000440016,;HOXD10,intron_variant,,ENST00000490088,;HOXD10,intron_variant,,ENST00000549469,;							MODERATE	201/1023	M67I	HXD10_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000249501		CCDS2266.1			1	
ZFHX3	0	LGGM	GRCh37	16	72833954	72833954	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	32	5	.	.	ENST00000268489.5:c.3939C>T	p.Ser1313=	p.S1313=	ENST00000268489	NM_006885.3	1313	tcC/tcT	0	1	1	UPI00001AE937	0		ENST00000268489		ENSG00000140836	777		37			HGNC	p.S1313S		ZFHX3		SNV							ENST00000268489	protein_coding			hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208		S		A		4612/16064				Q6TCJ2_HUMAN			YES	ZFHX3,synonymous_variant,p.=,ENST00000268489,NM_006885.3;ZFHX3,synonymous_variant,p.=,ENST00000397992,NM_001164766.1;							LOW	3939/11112		ZFHX3_HUMAN			Transcript			.	ENSP00000268489		CCDS10908.1			1	
DERA	0	LGGM	GRCh37	12	16111231	16111231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	55	5	.	.	ENST00000428559.2:c.239G>T	p.Arg80Leu	p.R80L	ENST00000428559	NM_015954.2	80	cGg/cTg	0	1	1	UPI00001291A2	0	getma.org/pdb.php?prot=DEOC_HUMAN&from=49&to=299&var=R80L	ENST00000428559		ENSG00000023697	24269		60	2.74		HGNC	p.G63W	rs114053981	DERA		SNV	A:0.0113						ENST00000528821	protein_coding	getma.org/?cm=var&var=hg19,12,16111231,G,T&fts=all	A:0.0197	Gene3D:3.20.20.70,Pfam_domain:PF01791,PIRSF_domain:PIRSF001357,hmmpanther:PTHR10889,hmmpanther:PTHR10889:SF5,Superfamily_domains:SSF51569,TIGRFAM_domain:TIGR00126		R/L	A:0.0002	T	medium	451/1709	8.47E-05	getma.org/?cm=msa&ty=f&p=DEOC_HUMAN&rb=49&re=299&var=R80L	deleterious(0.01)	G3V158_HUMAN,E9PPK3_HUMAN	A:0	A:0	YES	DERA,missense_variant,p.Arg80Leu,ENST00000428559,NM_015954.2;DERA,missense_variant,p.Arg80Leu,ENST00000532964,;DERA,missense_variant,p.Arg101Leu,ENST00000531803,;DERA,5_prime_UTR_variant,,ENST00000526530,;DERA,5_prime_UTR_variant,,ENST00000533447,;DERA,5_prime_UTR_variant,,ENST00000524480,;DERA,missense_variant,p.Gly63Trp,ENST00000528821,;DERA,intron_variant,,ENST00000526521,;DERA,upstream_gene_variant,,ENST00000530274,;		A:0.0052					MODERATE	239/957	R80L	DEOC_HUMAN		A:0	Transcript		possibly_damaging(0.844)	.	ENSP00000416583	3.31E-05	CCDS44838.1		A:0	1	
PRKAA2	0	LGGM	GRCh37	1	57161802	57161802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	129	6	.	.	ENST00000371244.4:c.758C>A	p.Pro253Gln	p.P253Q	ENST00000371244	NM_006252.3	253	cCa/cAa	0	1	1	UPI00001250A9	0	getma.org/pdb.php?prot=AAPK2_HUMAN&from=16&to=268&var=P253Q	ENST00000371244		ENSG00000162409	9377		135	2.49		HGNC	p.P253Q		PRKAA2		SNV							ENST00000371244	protein_coding	getma.org/?cm=var&var=hg19,1,57161802,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF82,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/Q		A	medium	824/9347		getma.org/?cm=msa&ty=f&p=AAPK2_HUMAN&rb=16&re=268&var=P253Q	deleterious(0)				YES	PRKAA2,missense_variant,p.Pro253Gln,ENST00000371244,NM_006252.3;							MODERATE	758/1659	P253Q	AAPK2_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000360290		CCDS605.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110477253	110477253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	126	6	.	.	ENST00000378402.5:c.8192C>A	p.Pro2731Gln	p.P2731Q	ENST00000378402	NM_177531.4	2731	cCa/cAa	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		132	2.75		HGNC	p.P2731Q		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110477253,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		P/Q		A	medium	8296/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=2705&re=2904&var=P2731Q	deleterious(0)				YES	PKHD1L1,missense_variant,p.Pro2731Gln,ENST00000378402,NM_177531.4;							MODERATE	8192/12732	P2731Q	PKHL1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000367655		CCDS47911.1			1	
PRRC2C	0	LGGM	GRCh37	1	171514665	171514665	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	53	6	.	.	ENST00000338920.4:c.4805A>G	p.Asn1602Ser	p.N1602S	ENST00000338920	NM_015172.3	1602	aAt/aGt	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		59	0.37		HGNC	p.N1602S	rs766169003	PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171514665,A,G&fts=all		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		N/S		G	neutral	5042/10355		getma.org/?cm=msa&ty=f&p=PRC2C_HUMAN&rb=1565&re=1764&var=N1602S					YES	PRRC2C,missense_variant,p.Asn1604Ser,ENST00000367742,;PRRC2C,missense_variant,p.Asn1602Ser,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Asn1604Ser,ENST00000392078,;PRRC2C,missense_variant,p.Asn1602Ser,ENST00000426496,;PRRC2C,missense_variant,p.Asn150Ser,ENST00000495585,;							MODERATE	4805/8454	N1602S	PRC2C_HUMAN			Transcript		unknown(0)	.	ENSP00000343629	1.65E-05	CCDS1296.2	0.00279		1	
ZNF347	0	LGGM	GRCh37	19	53645316	53645316	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	92	6	.	.	ENST00000452676.2:c.768T>C	p.Asn256=	p.N256=	ENST00000452676	NM_001172674.1	256	aaT/aaC	0	1		UPI000049DED1	0		ENST00000334197		ENSG00000197937	16447		98			HGNC	p.N256N		ZNF347		SNV							ENST00000452676	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF95		N		G		834/4193				M0R1E9_HUMAN,M0QZE2_HUMAN,M0QXR8_HUMAN				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,;							LOW	765/2520		ZN347_HUMAN			Transcript			.	ENSP00000334146		CCDS33097.1			1	
SCML2	0	LGGM	GRCh37	X	18323145	18323145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	81	6	.	.	ENST00000251900.4:c.677C>A	p.Pro226Gln	p.P226Q	ENST00000251900	NM_006089.2	226	cCa/cAa	0	1	1	UPI0000071E54	0	getma.org/pdb.php?prot=SCML2_HUMAN&from=176&to=244&var=P226Q	ENST00000251900		ENSG00000102098	10581		87	3.925		HGNC	p.P226Q		SCML2		SNV							ENST00000251900	protein_coding	getma.org/?cm=var&var=hg19,X,18323145,G,T&fts=all		Gene3D:2.30.30.160,Pfam_domain:PF02820,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF76,SMART_domains:SM00561,Superfamily_domains:SSF63748		P/Q		T	high	837/4200		getma.org/?cm=msa&ty=f&p=SCML2_HUMAN&rb=176&re=244&var=P226Q	deleterious(0)				YES	SCML2,missense_variant,p.Pro226Gln,ENST00000251900,NM_006089.2;							MODERATE	677/2103	P226Q	SCML2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000251900		CCDS14185.1			1	
CACNB2	0	LGGM	GRCh37	10	18789815	18789815	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	34	6	.	.	ENST00000324631.7:c.531C>T	p.Val177=	p.V177=	ENST00000324631	NM_201593.2	177	gtC/gtT	0	1	1	UPI00001AEA80	0		ENST00000324631		ENSG00000165995	1402		40			HGNC	p.V177V		CACNB2		SNV			1				ENST00000352115	protein_coding			Gene3D:2.30.30.40,hmmpanther:PTHR11824,hmmpanther:PTHR11824:SF9,SMART_domains:SM00326,Superfamily_domains:SSF50044		V		T		591/3446							YES	CACNB2,synonymous_variant,p.=,ENST00000396576,NM_000724.3;CACNB2,synonymous_variant,p.=,ENST00000282343,NM_201571.3,NM_001167945.1;CACNB2,synonymous_variant,p.=,ENST00000377315,NM_201570.2;CACNB2,synonymous_variant,p.=,ENST00000324631,NM_201593.2,NM_201596.2;CACNB2,synonymous_variant,p.=,ENST00000377329,NM_201590.2;CACNB2,synonymous_variant,p.=,ENST00000377319,;CACNB2,synonymous_variant,p.=,ENST00000352115,NM_201597.2;CACNB2,synonymous_variant,p.=,ENST00000377331,NM_201572.3;CACNB2,intron_variant,,ENST00000377328,;CACNB2,downstream_gene_variant,,ENST00000498816,;							LOW	531/1983		CACB2_HUMAN			Transcript			.	ENSP00000320025		CCDS7125.1			1	
SLC35G2	0	LGGM	GRCh37	3	136573617	136573617	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	90	6	.	.	ENST00000446465.2:c.315G>C	p.Trp105Cys	p.W105C	ENST00000446465	NM_025246.2	105	tgG/tgC	0	1		UPI000013EB08	0	NA	ENST00000393079		ENSG00000168917	28480		96	1.995		HGNC	p.W105C		SLC35G2		SNV							ENST00000393079	protein_coding	getma.org/?cm=var&var=hg19,3,136573617,G,C&fts=all		hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF34,Transmembrane_helices:TMhelix		W/C		C	medium	464/1577		getma.org/?cm=msa&ty=f&p=S35G2_HUMAN&rb=1&re=200&var=W105C	deleterious(0)					SLC35G2,missense_variant,p.Trp105Cys,ENST00000446465,NM_025246.2;SLC35G2,missense_variant,p.Trp105Cys,ENST00000393079,NM_001097600.1;RP11-85F14.5,intron_variant,,ENST00000461864,;RP11-85F14.5,intron_variant,,ENST00000474250,;RP11-85F14.5,intron_variant,,ENST00000470236,;							MODERATE	315/1239	W105C	S35G2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376794		CCDS3091.1			1	
LFNG	0	LGGM	GRCh37	7	2552835	2552835	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	114	6	.	.	ENST00000402506.1:c.92G>T	p.Trp31Leu	p.W31L	ENST00000402506	NM_001166355.1	31	tGg/tTg	0	1	1	UPI000173A1FB	0	NA	ENST00000402506		ENSG00000106003	6560		120	0		HGNC	p.W31L		LFNG		SNV			1				ENST00000402506	protein_coding	getma.org/?cm=var&var=hg19,7,2552835,G,T&fts=all				W/L		T	neutral	218/2268		getma.org/?cm=msa&ty=f&p=B3KTY6_HUMAN&rb=1&re=62&var=W31L	tolerated_low_confidence(0.09)					LFNG,missense_variant,p.Trp31Leu,ENST00000402506,NM_001166355.1;LFNG,upstream_gene_variant,,ENST00000402045,NM_002304.2;							MODERATE	92/927	W31L	LFNG_HUMAN			Transcript		benign(0.316)	.	ENSP00000385764		CCDS55081.1			1	
HRNR	0	LGGM	GRCh37	1	152187633	152187633	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	121	6	.	.	ENST00000368801.2:c.6472C>A	p.Arg2158Ser	p.R2158S	ENST00000368801	NM_001009931.2	2158	Cgc/Agc	0	1	1	UPI00001D7CAD	0	NA	ENST00000368801		ENSG00000197915	20846		127	-0.755		HGNC	p.R2158S	rs750088767	HRNR		SNV				0.000103			ENST00000368801	protein_coding	getma.org/?cm=var&var=hg19,1,152187633,G,T&fts=all		Low_complexity_(Seg):seg		R/S		T	neutral	6548/9623	1.52E-05	getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=R2158S		Q5W8V9_HUMAN			YES	HRNR,missense_variant,p.Arg2158Ser,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	6472/8553	R2158S	HORN_HUMAN			Transcript		unknown(0)	.	ENSP00000357791	1.65E-05	CCDS30859.1			1	
GLI3	0	LGGM	GRCh37	7	42007319	42007319	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	73	6	.	.	ENST00000395925.3:c.2306C>A	p.Pro769Gln	p.P769Q	ENST00000395925	NM_000168.5	769	cCg/cAg	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		79	1.39		HGNC	p.P769Q		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42007319,G,T&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		P/Q		T	low	2391/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=681&re=1089&var=P769Q	tolerated(0.35)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Pro769Gln,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,downstream_gene_variant,,ENST00000464291,;							MODERATE	2306/4743	P769Q	GLI3_HUMAN			Transcript		benign(0.37)	.	ENSP00000379258		CCDS5465.1			1	
SCP2	0	LGGM	GRCh37	1	53480579	53480579	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	16	6	.	.	ENST00000371514.3:c.1099G>A	p.Glu367Lys	p.E367K	ENST00000371514	NM_002979.4	367	Gaa/Aaa	0	1	1	UPI0000130258	0	getma.org/pdb.php?prot=NLTP_HUMAN&from=277&to=401&var=E367K	ENST00000371514		ENSG00000116171	10606		22	3.655		HGNC	p.E343K		SCP2		SNV			1				ENST00000407246	protein_coding	getma.org/?cm=var&var=hg19,1,53480579,G,A&fts=all		hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Gene3D:3.40.47.10,Pfam_domain:PF02803,Superfamily_domains:SSF53901		E/K		A	high	1267/2811		getma.org/?cm=msa&ty=f&p=NLTP_HUMAN&rb=277&re=401&var=E367K	deleterious(0)				YES	SCP2,missense_variant,p.Glu367Lys,ENST00000371514,NM_002979.4;SCP2,missense_variant,p.Glu343Lys,ENST00000407246,NM_001193599.1;SCP2,missense_variant,p.Glu286Lys,ENST00000528311,NM_001193617.1;SCP2,missense_variant,p.Glu323Lys,ENST00000371509,NM_001193600.1;SCP2,upstream_gene_variant,,ENST00000488965,;SCP2,upstream_gene_variant,,ENST00000408941,NM_001007250.2;SCP2,upstream_gene_variant,,ENST00000478274,;SCP2,upstream_gene_variant,,ENST00000430330,NM_001007099.2,NM_001007100.2;SCP2,upstream_gene_variant,,ENST00000435345,;SCP2,upstream_gene_variant,,ENST00000484100,;SCP2,3_prime_UTR_variant,,ENST00000478631,;SCP2,upstream_gene_variant,,ENST00000533119,;							MODERATE	1099/1644	E367K	NLTP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360569		CCDS572.1			1	
TCHHL1	0	LGGM	GRCh37	1	152058438	152058438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	78	6	.	.	ENST00000368806.1:c.1720C>A	p.Gln574Lys	p.Q574K	ENST00000368806	NM_001008536.1	574	Cag/Aag	0	1	1	UPI0000496834	0	NA	ENST00000368806		ENSG00000182898	31796		84	0.75		HGNC	p.Q574K		TCHHL1		SNV							ENST00000368806	protein_coding	getma.org/?cm=var&var=hg19,1,152058438,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53		Q/K		T	neutral	1785/3603		getma.org/?cm=msa&ty=f&p=TCHL1_HUMAN&rb=416&re=609&var=Q574K	tolerated(0.15)				YES	TCHHL1,missense_variant,p.Gln574Lys,ENST00000368806,NM_001008536.1;							MODERATE	1720/2715	Q574K	TCHL1_HUMAN			Transcript		benign(0.015)	.	ENSP00000357796		CCDS30857.1			1	
SLFN5	0	LGGM	GRCh37	17	33591804	33591804	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	133	6	.	.	ENST00000299977.4:c.1741G>T	p.Gly581Ter	p.G581*	ENST00000299977	NM_144975.3	581	Gga/Tga	0	1	1	UPI0000237686	0	NA	ENST00000299977		ENSG00000166750	28286		139	0		HGNC	p.G581X		SLFN5		SNV							ENST00000299977	protein_coding	getma.org/?cm=var&var=hg19,17,33591804,G,T&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26,Gene3D:3.40.50.300,Pfam_domain:PF09848,Superfamily_domains:SSF52540		G/*		T	NA	1889/10591		NA					YES	SLFN5,stop_gained,p.Gly581Ter,ENST00000299977,NM_144975.3;SLFN5,intron_variant,,ENST00000542451,;SLFN5,downstream_gene_variant,,ENST00000592325,;							HIGH	1741/2676	G581*	SLFN5_HUMAN			Transcript			.	ENSP00000299977		CCDS32619.1			1	
SLC26A3	0	LGGM	GRCh37	7	107427911	107427911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	92	6	.	.	ENST00000340010.5:c.779C>T	p.Ala260Val	p.A260V	ENST00000340010	NM_000111.2	260	gCa/gTa	0	1	1	UPI000000128C	0	NA	ENST00000340010		ENSG00000091138	3018		98	1.825		HGNC	p.A260V		SLC26A3		SNV			1				ENST00000340010	protein_coding	getma.org/?cm=var&var=hg19,7,107427911,G,A&fts=all		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix		A/V		A	low	964/2863		getma.org/?cm=msa&ty=f&p=S26A3_HUMAN&rb=193&re=471&var=A260V	deleterious(0.04)	Q75N04_HUMAN,C9JFJ2_HUMAN			YES	SLC26A3,missense_variant,p.Ala260Val,ENST00000340010,NM_000111.2;SLC26A3,missense_variant,p.Ala225Val,ENST00000422236,;SLC26A3,downstream_gene_variant,,ENST00000453332,;SLC26A3,3_prime_UTR_variant,,ENST00000379083,;SLC26A3,non_coding_transcript_exon_variant,,ENST00000468551,;							MODERATE	779/2295	A260V	S26A3_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000345873		CCDS5748.1			1	
ZNF7	0	LGGM	GRCh37	8	146068048	146068048	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	54	7	.	.	ENST00000528372.1:c.1556A>G	p.His519Arg	p.H519R	ENST00000528372		519	cAt/cGt	0	1	1	UPI000013C3F8	0	getma.org/pdb.php?prot=ZNF7_HUMAN&from=511&to=535&var=H519R	ENST00000528372		ENSG00000147789	13139		61	3.19		HGNC	p.H519R		ZNF7		SNV							ENST00000325241	protein_coding	getma.org/?cm=var&var=hg19,8,146068048,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/R		G	medium	1796/2905		getma.org/?cm=msa&ty=f&p=ZNF7_HUMAN&rb=491&re=555&var=H519R	deleterious(0)	Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN			YES	ZNF7,missense_variant,p.His519Arg,ENST00000528372,;ZNF7,missense_variant,p.His519Arg,ENST00000325241,NM_003416.2;ZNF7,missense_variant,p.His530Arg,ENST00000446747,NM_001282795.1;ZNF7,missense_variant,p.His423Arg,ENST00000544249,NM_001282797.1;ZNF7,intron_variant,,ENST00000525266,NM_001282796.1;ZNF7,intron_variant,,ENST00000325217,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;ZNF7,downstream_gene_variant,,ENST00000529767,;							MODERATE	1556/2061	H519R	ZNF7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000432724		CCDS6435.1			1	
RBM12B	0	LGGM	GRCh37	8	94747555	94747555	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	76	7	.	.	ENST00000399300.2:c.1084C>A	p.Gln362Lys	p.Q362K	ENST00000399300	NM_203390.2	362	Caa/Aaa	0	1	1	UPI0000E9B14C	0	NA	ENST00000399300		ENSG00000183808	32310		83	0.345		HGNC	p.Q362K		RBM12B		SNV							ENST00000399300	protein_coding	getma.org/?cm=var&var=hg19,8,94747555,G,T&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28,Superfamily_domains:SSF54928		Q/K		T	neutral	1298/7269		getma.org/?cm=msa&ty=f&p=RB12B_HUMAN&rb=355&re=401&var=Q362K	tolerated(0.93)	E5RJW8_HUMAN,E5RJV8_HUMAN,E5RJ83_HUMAN,E5RHG1_HUMAN			YES	RBM12B,missense_variant,p.Gln362Lys,ENST00000399300,NM_203390.2;RBM12B,missense_variant,p.Gln362Lys,ENST00000517700,;FAM92A1,downstream_gene_variant,,ENST00000518322,NM_145269.3;RBM12B-AS1,upstream_gene_variant,,ENST00000391680,;RBM12B,downstream_gene_variant,,ENST00000519109,;RBM12B,downstream_gene_variant,,ENST00000520560,;RBM12B,downstream_gene_variant,,ENST00000518597,;RBM12B,downstream_gene_variant,,ENST00000521947,;RP11-10N23.4,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,;							MODERATE	1084/3006	Q362K	RB12B_HUMAN			Transcript		benign(0.049)	.	ENSP00000382239		CCDS43755.1			1	
POC1B-GALNT4	0	LGGM	GRCh37	12	89917408	89917408	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	65	7	.	.	ENST00000529983.2:c.919C>G	p.Pro307Ala	p.P307A	ENST00000529983	NM_003774.4	307	Cct/Gct	0	1	1	UPI0000228FE1	0	getma.org/pdb.php?prot=GALT4_HUMAN&from=138&to=321&var=P307A	ENST00000548729		ENSG00000259075	42957		72	3.02		HGNC	p.P304A		POC1B-GALNT4		SNV							ENST00000548729	protein_coding	getma.org/?cm=var&var=hg19,12,89917408,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF7,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		P/A		C	medium	1213/5436		getma.org/?cm=msa&ty=f&p=GALT4_HUMAN&rb=138&re=321&var=P307A	deleterious(0)	F8VUJ3_HUMAN			YES	POC1B-GALNT4,missense_variant,p.Pro304Ala,ENST00000548729,NM_001199781.1,NM_001199782.1;GALNT4,missense_variant,p.Pro307Ala,ENST00000529983,NM_003774.4;GALNT4,missense_variant,p.Pro135Ala,ENST00000413530,;POC1B-GALNT4,3_prime_UTR_variant,,ENST00000547474,;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000313546,NM_172240.2;POC1B,intron_variant,,ENST00000549035,NM_001199777.1;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000549504,;RP11-734K2.4,upstream_gene_variant,,ENST00000605233,;POC1B,intron_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000547496,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000546830,;POC1B,intron_variant,,ENST00000547274,;							MODERATE	910/1728	P307A				Transcript		probably_damaging(0.999)	.	ENSP00000447852		CCDS55860.1			1	
CTSE	0	LGGM	GRCh37	1	206320307	206320307	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	33	7	.	.	ENST00000358184.2:c.450C>A	p.Ala150=	p.A150=	ENST00000358184	NM_001910.3	150	gcC/gcA	0	1	1	UPI000000D9E4	0		ENST00000358184		ENSG00000196188	2530		40			HGNC	p.A75A		CTSE		SNV							ENST00000432969	protein_coding			hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF81,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630		A		A		568/2228							YES	CTSE,synonymous_variant,p.=,ENST00000361052,;CTSE,synonymous_variant,p.=,ENST00000358184,NM_001910.3;CTSE,synonymous_variant,p.=,ENST00000360218,NM_148964.2;CTSE,synonymous_variant,p.=,ENST00000432969,;CTSE,non_coding_transcript_exon_variant,,ENST00000468617,;							LOW	450/1191		CATE_HUMAN			Transcript			.	ENSP00000350911		CCDS1462.1			1	
PABPC3	0	LGGM	GRCh37	13	25671108	25671108	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	75	7	.	.	ENST00000281589.3:c.772G>A	p.Gly258Arg	p.G258R	ENST00000281589	NM_030979.2	258	Gga/Aga	0	1	1	UPI00001311AB	0	getma.org/pdb.php?prot=PABP3_HUMAN&from=193&to=262&var=G258R	ENST00000281589		ENSG00000151846	8556		82	3.5		HGNC	p.G258R	COSM136932	PABPC3		SNV						1	ENST00000281589	protein_coding	getma.org/?cm=var&var=hg19,13,25671108,G,A&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239,PROSITE_profiles:PS50102		G/R		A	medium	809/3090		getma.org/?cm=msa&ty=f&p=PABP3_HUMAN&rb=193&re=262&var=G258R	deleterious(0)	Q5VX58_HUMAN,Q2VIP3_HUMAN			YES	PABPC3,missense_variant,p.Gly258Arg,ENST00000281589,NM_030979.2;					1		MODERATE	772/1896	G258R	PABP3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000281589		CCDS9311.1			1	
BRIP1	0	LGGM	GRCh37	17	59876545	59876545	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	76	7	.	.	ENST00000259008.2:c.1256G>T	p.Arg419Leu	p.R419L	ENST00000259008	NM_032043.2	419	cGg/cTg	0	1	1	UPI000013D01F	0	getma.org/pdb.php?prot=FANCJ_HUMAN&from=11&to=442&var=R419L	ENST00000259008		ENSG00000136492	20473		83	0.97		HGNC	p.R419L		BRIP1		SNV			1				ENST00000259008	protein_coding	getma.org/?cm=var&var=hg19,17,59876545,C,A&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF6,SMART_domains:SM00487,SMART_domains:SM00488,TIGRFAM_domain:TIGR00604		R/L		A	low	1524/6048		getma.org/?cm=msa&ty=f&p=FANCJ_HUMAN&rb=11&re=442&var=R419L	deleterious(0.01)	J3KS24_HUMAN			YES	BRIP1,missense_variant,p.Arg419Leu,ENST00000259008,NM_032043.2;BRIP1,missense_variant,p.Arg419Leu,ENST00000577598,;							MODERATE	1256/3750	R419L	FANCJ_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000259008		CCDS11631.1			1	
LPIN2	0	LGGM	GRCh37	18	2951243	2951243	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	22	7	.	.	ENST00000261596.4:c.400A>T	p.Ser134Cys	p.S134C	ENST00000261596	NM_014646.2	134	Agt/Tgt	0	1	1	UPI000012E865	0	NA	ENST00000261596		ENSG00000101577	14450		29	1.935		HGNC	p.S134C		LPIN2		SNV			1				ENST00000584294	protein_coding	getma.org/?cm=var&var=hg19,18,2951243,T,A&fts=all		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11		S/C		A	medium	639/6229		getma.org/?cm=msa&ty=f&p=LPIN2_HUMAN&rb=133&re=628&var=S134C	deleterious(0.04)	J3KTK1_HUMAN			YES	LPIN2,missense_variant,p.Ser134Cys,ENST00000261596,NM_014646.2;LPIN2,missense_variant,p.Ser134Cys,ENST00000584294,;LPIN2,downstream_gene_variant,,ENST00000584915,;RP11-737O24.2,non_coding_transcript_exon_variant,,ENST00000584431,;RP11-737O24.2,downstream_gene_variant,,ENST00000581488,;RP11-737O24.3,upstream_gene_variant,,ENST00000581139,;RP11-737O24.3,upstream_gene_variant,,ENST00000582850,;							MODERATE	400/2691	S134C	LPIN2_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000261596		CCDS11829.1			1	
ITPA	0	LGGM	GRCh37	20	3194680	3194680	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	14	7	.	.	ENST00000380113.3:c.239T>C	p.Leu80Pro	p.L80P	ENST00000380113	NM_181493.2	80	cTt/cCt	0	1	1	UPI0000072BC2	0	getma.org/pdb.php?prot=ITPA_HUMAN&from=10&to=189&var=L80P	ENST00000380113		ENSG00000125877	6176		21	4.85		HGNC	p.L80P		ITPA		SNV			1				ENST00000380113	protein_coding	getma.org/?cm=var&var=hg19,20,3194680,T,C&fts=all		HAMAP:MF_03148,hmmpanther:PTHR11067,Pfam_domain:PF01725,Gene3D:3.90.950.10,TIGRFAM_domain:TIGR00042,Superfamily_domains:SSF52972		L/P		C	high	431/1185		getma.org/?cm=msa&ty=f&p=ITPA_HUMAN&rb=10&re=189&var=L80P	deleterious(0)	Q5NT82_HUMAN			YES	ITPA,missense_variant,p.Leu80Pro,ENST00000380113,NM_181493.2,NM_033453.3;ITPA,missense_variant,p.Leu39Pro,ENST00000399838,NM_001267623.1;ITPA,missense_variant,p.Leu63Pro,ENST00000455664,;ITPA,non_coding_transcript_exon_variant,,ENST00000483354,;ITPA,non_coding_transcript_exon_variant,,ENST00000490838,;ITPA,non_coding_transcript_exon_variant,,ENST00000460550,;ITPA,non_coding_transcript_exon_variant,,ENST00000460676,;ITPA,upstream_gene_variant,,ENST00000461029,;ITPA,non_coding_transcript_exon_variant,,ENST00000609835,;							MODERATE	239/585	L80P	ITPA_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000369456		CCDS13051.1			1	
CNGB3	0	LGGM	GRCh37	8	87656905	87656905	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	7	.	.	ENST00000320005.5:c.1000T>G	p.Phe334Val	p.F334V	ENST00000320005	NM_019098.4	334	Ttt/Gtt	0	1	1	UPI000014076F	0	NA	ENST00000320005		ENSG00000170289	2153		45	2.165		HGNC	p.F334V	rs765179358,COSM3432594	CNGB3	6.24E-05	SNV			1			0,1	ENST00000320005	protein_coding	getma.org/?cm=var&var=hg19,8,87656905,A,C&fts=all		Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF385,Superfamily_domains:SSF81324		F/V		C	medium	1048/4347		getma.org/?cm=msa&ty=f&p=CNGB3_HUMAN&rb=255&re=441&var=F334V	deleterious(0)				YES	CNGB3,missense_variant,p.Phe334Val,ENST00000320005,NM_019098.4;					0,1		MODERATE	1000/2430	F334V	CNGB3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000316605	8.25E-06	CCDS6244.1			1	
FAT3	0	LGGM	GRCh37	11	92088179	92088179	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	90	7	.	.	ENST00000298047.6:c.2901G>T	p.Leu967=	p.L967=	ENST00000298047		967	ctG/ctT	0	1	1	UPI000050B6C6	0		ENST00000298047		ENSG00000165323	23112		97			HGNC	p.L817L	rs766508231	FAT3		SNV							ENST00000525166	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		T		2918/19126				E9PQ73_HUMAN			YES	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;FAT3,synonymous_variant,p.=,ENST00000541502,;FAT3,upstream_gene_variant,,ENST00000528921,;	0.000116						LOW	2901/13770		FAT3_HUMAN			Transcript			.	ENSP00000298047	8.28E-06				1	
ATRN	0	LGGM	GRCh37	20	3553581	3553581	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	29	7	.	.	ENST00000262919.5:c.2075A>G	p.Glu692Gly	p.E692G	ENST00000262919	NM_139321.2	692	gAa/gGa	0	1	1	UPI000012661C	0	NA	ENST00000262919		ENSG00000088812	885		36	1.1		HGNC	p.E692G		ATRN		SNV							ENST00000446916	protein_coding	getma.org/?cm=var&var=hg19,20,3553581,A,G&fts=all		hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574,SMART_domains:SM00423		E/G		G	low	2143/8633		getma.org/?cm=msa&ty=f&p=ATRN_HUMAN&rb=609&re=702&var=E692G	tolerated(0.25)				YES	ATRN,missense_variant,p.Glu692Gly,ENST00000262919,NM_139321.2;ATRN,missense_variant,p.Glu692Gly,ENST00000446916,NM_139322.2,NM_001207047.1;							MODERATE	2075/4290	E692G	ATRN_HUMAN			Transcript		benign(0.065)	.	ENSP00000262919		CCDS13053.1			1	
CENPO	0	LGGM	GRCh37	2	25039615	25039615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	187	7	.	.	ENST00000380834.2:c.695C>A	p.Pro232Gln	p.P232Q	ENST00000380834		232	cCg/cAg	0	1		UPI000006F5F6	0	NA	ENST00000260662		ENSG00000138092	28152		194	1.59		HGNC	p.P232Q		CENPO		SNV							ENST00000260662	protein_coding	getma.org/?cm=var&var=hg19,2,25039615,C,A&fts=all		hmmpanther:PTHR14582		P/Q		A	low	820/1625		getma.org/?cm=msa&ty=f&p=CENPO_HUMAN&rb=198&re=300&var=P232Q	tolerated(0.07)					CENPO,missense_variant,p.Pro232Gln,ENST00000380834,;CENPO,missense_variant,p.Pro226Gln,ENST00000473706,NM_001199803.1;CENPO,missense_variant,p.Pro232Gln,ENST00000260662,NM_024322.2;ADCY3,downstream_gene_variant,,ENST00000260600,NM_004036.3;ADCY3,downstream_gene_variant,,ENST00000405392,;ADCY3,downstream_gene_variant,,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000498288,;CENPO,non_coding_transcript_exon_variant,,ENST00000395845,;CENPO,non_coding_transcript_exon_variant,,ENST00000498362,;CENPO,intron_variant,,ENST00000464156,;CENPO,downstream_gene_variant,,ENST00000491031,;ADCY3,downstream_gene_variant,,ENST00000485887,;CENPO,downstream_gene_variant,,ENST00000486527,;							MODERATE	695/903	P232Q	CENPO_HUMAN			Transcript		benign(0.055)	.	ENSP00000260662		CCDS1714.1			1	
HOXB2	0	LGGM	GRCh37	17	46621951	46621951	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	11	7	.	.	ENST00000330070.4:c.323G>C	p.Ser108Thr	p.S108T	ENST00000330070	NM_002145.3	108	aGc/aCc	0	1	1	UPI000012CF4C	0	NA	ENST00000330070		ENSG00000173917	5113		18	1.24		HGNC	p.S108T	rs568725745	HOXB2		SNV							ENST00000330070	protein_coding	getma.org/?cm=var&var=hg19,17,46621951,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24326:SF179,hmmpanther:PTHR24326		S/T		G	low	1491/2652	3.24E-05	getma.org/?cm=msa&ty=f&p=HXB2_HUMAN&rb=88&re=143&var=S108T	tolerated(0.44)	D3DTV2_HUMAN			YES	HOXB2,missense_variant,p.Ser108Thr,ENST00000330070,NM_002145.3;HOXB3,downstream_gene_variant,,ENST00000470495,;HOXB-AS1,intron_variant,,ENST00000435312,;HOXB-AS1,intron_variant,,ENST00000504972,;HOXB-AS1,upstream_gene_variant,,ENST00000502764,;HOXB-AS1,upstream_gene_variant,,ENST00000508688,;HOXB2,upstream_gene_variant,,ENST00000504772,;HOXB2,upstream_gene_variant,,ENST00000571287,;HOXB2,upstream_gene_variant,,ENST00000574746,;							MODERATE	323/1071	S108T	HXB2_HUMAN			Transcript		benign(0.11)	.	ENSP00000331741	1.65E-05	CCDS11527.1			1	
NPC1	0	LGGM	GRCh37	18	21121135	21121135	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	69	7	.	.	ENST00000269228.5:c.2411C>T	p.Ala804Val	p.A804V	ENST00000269228	NM_000271.4	804	gCt/gTt	0	1	1	UPI000013D80F	0	NA	ENST00000269228		ENSG00000141458	7897		76	0.345		HGNC	p.A804V		NPC1		SNV			1				ENST00000269228	protein_coding	getma.org/?cm=var&var=hg19,18,21121135,G,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		A/V		A	neutral	2966/5157		getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=804&re=1003&var=A804V	tolerated(0.27)				YES	NPC1,missense_variant,p.Ala804Val,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Ala486Val,ENST00000412552,;NPC1,missense_variant,p.Ala497Val,ENST00000591051,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,non_coding_transcript_exon_variant,,ENST00000586718,;NPC1,upstream_gene_variant,,ENST00000591075,;NPC1,upstream_gene_variant,,ENST00000591955,;							MODERATE	2411/3837	A804V	NPC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000269228		CCDS11878.1			1	
NPC1	0	LGGM	GRCh37	18	21121136	21121136	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	69	7	.	.	ENST00000269228.5:c.2410G>C	p.Ala804Pro	p.A804P	ENST00000269228	NM_000271.4	804	Gct/Cct	0	1	1	UPI000013D80F	0	NA	ENST00000269228		ENSG00000141458	7897		76	0.14		HGNC	p.A804P		NPC1		SNV			1				ENST00000269228	protein_coding	getma.org/?cm=var&var=hg19,18,21121136,C,G&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		A/P		G	neutral	2965/5157		getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=804&re=1003&var=A804P	tolerated(0.35)				YES	NPC1,missense_variant,p.Ala804Pro,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Ala497Pro,ENST00000591051,;NPC1,missense_variant,p.Ala486Pro,ENST00000412552,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,non_coding_transcript_exon_variant,,ENST00000586718,;NPC1,upstream_gene_variant,,ENST00000591075,;NPC1,upstream_gene_variant,,ENST00000591955,;							MODERATE	2410/3837	A804P	NPC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000269228		CCDS11878.1			1	
RBM6	0	LGGM	GRCh37	3	50114457	50114457	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	16	7	.	.	ENST00000266022.4:c.3263G>T	p.Arg1088Met	p.R1088M	ENST00000266022	NM_005777.2	1088	aGg/aTg	0	1	1	UPI000013D6C0	0	NA	ENST00000266022		ENSG00000004534	9903		23	1.845		HGNC	p.R84M		RBM6		SNV							ENST00000421682	protein_coding	getma.org/?cm=var&var=hg19,3,50114457,G,T&fts=all		Pfam_domain:PF01585,PROSITE_profiles:PS50174,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF22,SMART_domains:SM00443		R/M		T	low	3522/3748		getma.org/?cm=msa&ty=f&p=RBM6_HUMAN&rb=1051&re=1095&var=R1088M	deleterious(0)	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN			YES	RBM6,missense_variant,p.Arg956Met,ENST00000443081,;RBM6,missense_variant,p.Arg1088Met,ENST00000266022,NM_005777.2;RBM6,missense_variant,p.Arg566Met,ENST00000422955,;RBM6,missense_variant,p.Arg566Met,ENST00000442092,NM_001167582.1;RBM6,missense_variant,p.Arg430Met,ENST00000539992,;RBM6,missense_variant,p.Arg84Met,ENST00000421682,;RBM6,3_prime_UTR_variant,,ENST00000454079,;RBM6,3_prime_UTR_variant,,ENST00000419610,;RBM6,intron_variant,,ENST00000434592,;							MODERATE	3263/3372	R1088M	RBM6_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000266022		CCDS2809.1			1	
TBC1D2B	0	LGGM	GRCh37	15	78316802	78316802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	119	7	.	.	ENST00000300584.3:c.1166G>T	p.Gly389Val	p.G389V	ENST00000300584	NM_144572.1	389	gGg/gTg	0	1	1	UPI0000E02247	0	NA	ENST00000300584		ENSG00000167202	29183		126	2.3		HGNC	p.G277V		TBC1D2B		SNV							ENST00000435468	protein_coding	getma.org/?cm=var&var=hg19,15,78316802,C,A&fts=all		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF231		G/V		A	medium	1166/6067		getma.org/?cm=msa&ty=f&p=TBD2B_HUMAN&rb=149&re=588&var=G389V	deleterious(0.02)	Q69YW7_HUMAN,B2RTQ2_HUMAN			YES	TBC1D2B,missense_variant,p.Gly389Val,ENST00000409931,;TBC1D2B,missense_variant,p.Gly389Val,ENST00000300584,NM_144572.1,NM_015079.5;TBC1D2B,missense_variant,p.Gly277Val,ENST00000435468,;TBC1D2B,non_coding_transcript_exon_variant,,ENST00000486703,;							MODERATE	1166/2892	G389V	TBD2B_HUMAN			Transcript		benign(0.408)	.	ENSP00000300584		CCDS45314.1			1	
RABGAP1L	0	LGGM	GRCh37	1	174517108	174517108	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	66	7	.	.	ENST00000251507.4:c.1711-89405C>T		*571*	ENST00000251507	NM_014857.4			0	1	1	UPI0000458A9F	0		ENST00000251507		ENSG00000152061	24663		73			HGNC	p.T578I		RABGAP1L		SNV							ENST00000357444	protein_coding							T		-/2899				F1LJ00_HUMAN			YES	RABGAP1L,missense_variant,p.Thr578Ile,ENST00000357444,;RABGAP1L,intron_variant,,ENST00000251507,NM_014857.4;RABGAP1L,downstream_gene_variant,,ENST00000367689,;RABGAP1L,intron_variant,,ENST00000526253,;RABGAP1L,downstream_gene_variant,,ENST00000367690,;							MODIFIER	-/2448		RBG1L_HUMAN			Transcript			.	ENSP00000251507		CCDS1314.1			1	
PABPC3	0	LGGM	GRCh37	13	25671109	25671109	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	77	8	.	.	ENST00000281589.3:c.773G>A	p.Gly258Glu	p.G258E	ENST00000281589	NM_030979.2	258	gGa/gAa	0	1	1	UPI00001311AB	0	getma.org/pdb.php?prot=PABP3_HUMAN&from=193&to=262&var=G258E	ENST00000281589		ENSG00000151846	8556		85	2.46		HGNC	p.G258E		PABPC3		SNV							ENST00000281589	protein_coding	getma.org/?cm=var&var=hg19,13,25671109,G,A&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00361,SMART_domains:SM00360,Gene3D:3.30.70.330,TIGRFAM_domain:TIGR01628,Pfam_domain:PF00076,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239,PROSITE_profiles:PS50102		G/E		A	medium	810/3090		getma.org/?cm=msa&ty=f&p=PABP3_HUMAN&rb=193&re=262&var=G258E	deleterious(0.01)	Q5VX58_HUMAN,Q2VIP3_HUMAN			YES	PABPC3,missense_variant,p.Gly258Glu,ENST00000281589,NM_030979.2;							MODERATE	773/1896	G258E	PABP3_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000281589		CCDS9311.1			1	
FAM129A	0	LGGM	GRCh37	1	184764997	184764997	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	8	.	.	ENST00000367511.3:c.1901T>C	p.Leu634Ser	p.L634S	ENST00000367511	NM_052966.3	634	tTg/tCg	0	1	1	UPI00000375B3	0	NA	ENST00000367511		ENSG00000135842	16784		44	0.695		HGNC	p.L634S	rs779483721	FAM129A		SNV							ENST00000367511	protein_coding	getma.org/?cm=var&var=hg19,1,184764997,A,G&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF3		L/S		G	neutral	2095/6928	1.51E-05	getma.org/?cm=msa&ty=f&p=NIBAN_HUMAN&rb=595&re=794&var=L634S	tolerated(0.39)				YES	FAM129A,missense_variant,p.Leu634Ser,ENST00000367511,NM_052966.3;FAM129A,intron_variant,,ENST00000417056,;FAM129A,non_coding_transcript_exon_variant,,ENST00000487074,;							MODERATE	1901/2787	L634S	NIBAN_HUMAN			Transcript		benign(0.061)	.	ENSP00000356481	8.24E-06	CCDS1364.1			1	
SUN2	0	LGGM	GRCh37	22	39141712	39141712	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	17	8	.	.	ENST00000405018.1:c.853A>G	p.Arg285Gly	p.R285G	ENST00000405018	NM_001199579.1	285	Aga/Gga	0	1		UPI0000137937	0	NA	ENST00000405510		ENSG00000100242	14210		25	0.345		HGNC	p.R264G		SUN2		SNV							ENST00000405510	protein_coding	getma.org/?cm=var&var=hg19,22,39141712,T,C&fts=all		hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911		R/G		C	neutral	1149/4055		getma.org/?cm=msa&ty=f&p=SUN2_HUMAN&rb=1&re=516&var=R264G	tolerated(0.52)	Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN,B0QY64_HUMAN				SUN2,missense_variant,p.Arg264Gly,ENST00000405510,NM_001199580.1;SUN2,missense_variant,p.Arg285Gly,ENST00000405018,NM_001199579.1;SUN2,missense_variant,p.Arg264Gly,ENST00000216064,NM_015374.2;SUN2,missense_variant,p.Arg264Gly,ENST00000406622,;SUN2,missense_variant,p.Arg253Gly,ENST00000411587,;SUN2,missense_variant,p.Arg218Gly,ENST00000438058,;SUN2,missense_variant,p.Arg121Gly,ENST00000430185,;SUN2,downstream_gene_variant,,ENST00000456894,;SUN2,downstream_gene_variant,,ENST00000420859,;RP3-508I15.14,intron_variant,,ENST00000416406,;RP3-508I15.21,downstream_gene_variant,,ENST00000609212,;RP3-508I15.22,downstream_gene_variant,,ENST00000607991,;SUN2,upstream_gene_variant,,ENST00000469086,;SUN2,upstream_gene_variant,,ENST00000477262,;SUN2,downstream_gene_variant,,ENST00000480307,;SUN2,upstream_gene_variant,,ENST00000464202,;							MODERATE	790/2154	R264G	SUN2_HUMAN			Transcript		benign(0.002)	.	ENSP00000385740		CCDS13978.1			1	
FREM1	0	LGGM	GRCh37	9	14842616	14842616	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	8	.	.	ENST00000422223.2:c.1436G>C	p.Gly479Ala	p.G479A	ENST00000422223	NM_144966.5	479	gGa/gCa	0	1		UPI000057A218	0	NA	ENST00000380880		ENSG00000164946	23399		36	3.105		HGNC	p.G479A		FREM1		SNV			1				ENST00000380880	protein_coding	getma.org/?cm=var&var=hg19,9,14842616,C,G&fts=all		hmmpanther:PTHR11878:SF24,hmmpanther:PTHR11878		G/A		G	medium	2220/7324		getma.org/?cm=msa&ty=f&p=FREM1_HUMAN&rb=401&re=600&var=G479A	deleterious(0.02)					FREM1,missense_variant,p.Gly480Ala,ENST00000380881,;FREM1,missense_variant,p.Gly479Ala,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Gly479Ala,ENST00000380880,;FREM1,missense_variant,p.Gly479Ala,ENST00000380875,;							MODERATE	1436/6540	G479A	FREM1_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000370262		CCDS47952.1			1	
DNAH7	0	LGGM	GRCh37	2	196825184	196825184	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	88	8	.	.	ENST00000312428.6:c.2691A>G	p.Lys897=	p.K897=	ENST00000312428	NM_018897.2	897	aaA/aaG	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		96			HGNC	p.K897K		DNAH7		SNV							ENST00000312428	protein_coding			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393		K		C		2792/12394				C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;							LOW	2691/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273		CCDS42794.1			1	
ST6GAL2	0	LGGM	GRCh37	2	107459906	107459906	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	31	8	.	.	ENST00000409382.3:c.528G>A	p.Arg176=	p.R176=	ENST00000409382	NM_001142351.1	176	agG/agA	0	1		UPI000007477B	0		ENST00000361686		ENSG00000144057	10861		39			HGNC	p.R176R		ST6GAL2		SNV							ENST00000409087	protein_coding			hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF48,Low_complexity_(Seg):seg		R		T		717/6857				C9JIK2_HUMAN,C4N9P8_HUMAN				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,;							LOW	528/1590		SIAT2_HUMAN			Transcript			.	ENSP00000355273		CCDS2073.1			1	
PALB2	0	LGGM	GRCh37	16	23619331	23619331	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	8	.	.	ENST00000261584.4:c.3204G>T	p.Gly1068=	p.G1068=	ENST00000261584	NM_024675.3	1068	ggG/ggT	0	1	1	UPI000000DA86	0		ENST00000261584		ENSG00000083093	26144		46			HGNC	p.G1068G		PALB2		SNV			1				ENST00000261584	protein_coding			hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		G		A		3357/4003							YES	PALB2,splice_region_variant,p.=,ENST00000261584,NM_024675.3;PALB2,intron_variant,,ENST00000566069,;CTD-2196E14.3,intron_variant,,ENST00000561764,;PALB2,splice_region_variant,,ENST00000568219,;							LOW	3204/3561		PALB2_HUMAN			Transcript			.	ENSP00000261584		CCDS32406.1			1	
OR5AS1	0	LGGM	GRCh37	11	55798793	55798793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	54	8	.	.	ENST00000313555.1:c.899C>T	p.Ala300Val	p.A300V	ENST00000313555	NM_001001921.1	300	gCt/gTt	0	1	1	UPI000004B1FB	0	NA	ENST00000313555		ENSG00000181785	15261		62	1.385		HGNC	p.A300V	rs773554366,COSM1298157	OR5AS1		SNV						0,1	ENST00000313555	protein_coding	getma.org/?cm=var&var=hg19,11,55798793,C,T&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF153,Superfamily_domains:SSF81321		A/V		T	low	899/975		getma.org/?cm=msa&ty=f&p=O5AS1_HUMAN&rb=284&re=324&var=A300V	deleterious(0.03)				YES	OR5AS1,missense_variant,p.Ala300Val,ENST00000313555,NM_001001921.1;					0,1		MODERATE	899/975	A300V	O5AS1_HUMAN	0.000152		Transcript		benign(0.059)	.	ENSP00000324111	8.24E-06	CCDS31516.1			1	
AGK	0	LGGM	GRCh37	7	141315309	141315309	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	215	9	.	.	ENST00000355413.4:c.462G>T	p.Leu154=	p.L154=	ENST00000355413	NM_018238.3	154	ctG/ctT	0	1	1	UPI000006E622	0		ENST00000355413		ENSG00000006530	21869		224			HGNC	p.L154L		AGK		SNV			1				ENST00000355413	protein_coding			PROSITE_profiles:PS50146,hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF7,Pfam_domain:PF00781,Gene3D:3.40.50.10330,SMART_domains:SM00046,Superfamily_domains:SSF111331		L		T		722/3849				A4D1U5_HUMAN			YES	AGK,synonymous_variant,p.=,ENST00000355413,NM_018238.3;AGK,synonymous_variant,p.=,ENST00000473247,;AGK,synonymous_variant,p.=,ENST00000535825,;AGK,non_coding_transcript_exon_variant,,ENST00000496273,;AGK,synonymous_variant,p.=,ENST00000494688,;AGK,3_prime_UTR_variant,,ENST00000473884,;AGK,non_coding_transcript_exon_variant,,ENST00000465241,;							LOW	462/1269		AGK_HUMAN			Transcript			.	ENSP00000347581		CCDS5865.1			1	
CEP128	0	LGGM	GRCh37	14	81251398	81251398	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	58	9	.	.	ENST00000555265.1:c.2052A>G	p.Thr684=	p.T684=	ENST00000555265		684	acA/acG	0	1		UPI000022982E	0		ENST00000281129		ENSG00000100629	20359		67			HGNC	p.T684T		CEP128		SNV							ENST00000281129	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937		T		C		2223/4461				Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN				CEP128,synonymous_variant,p.=,ENST00000555265,;CEP128,synonymous_variant,p.=,ENST00000281129,NM_152446.3;CEP128,synonymous_variant,p.=,ENST00000554502,;							LOW	2052/3285		CE128_HUMAN			Transcript			.	ENSP00000281129		CCDS32130.1			1	
JAKMIP1	0	LGGM	GRCh37	4	6087203	6087203	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	9	.	.	ENST00000409021.3:c.778C>T	p.Pro260Ser	p.P260S	ENST00000409021	NM_001099433.1	260	Cca/Tca	0	1		UPI000006EC16	0	NA	ENST00000282924		ENSG00000152969	26460		48	2.1		HGNC	p.P95S		JAKMIP1		SNV							ENST00000410077	protein_coding	getma.org/?cm=var&var=hg19,4,6087203,G,A&fts=all		hmmpanther:PTHR18935		P/S		A	medium	1264/2585		getma.org/?cm=msa&ty=f&p=JKIP1_HUMAN&rb=1&re=602&var=P260S	deleterious(0)	F2Z2K5_HUMAN				JAKMIP1,missense_variant,p.Pro260Ser,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Pro260Ser,ENST00000282924,NM_144720.3;JAKMIP1,missense_variant,p.Pro95Ser,ENST00000409371,;JAKMIP1,missense_variant,p.Pro260Ser,ENST00000409831,;JAKMIP1,missense_variant,p.Pro95Ser,ENST00000410077,;JAKMIP1,non_coding_transcript_exon_variant,,ENST00000457227,;JAKMIP1,missense_variant,p.Pro260Ser,ENST00000473053,;							MODERATE	778/1881	P260S	JKIP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000282924		CCDS3385.1			1	
USP29	0	LGGM	GRCh37	19	57640971	57640971	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	35	9	.	.	ENST00000254181.4:c.928G>A	p.Ala310Thr	p.A310T	ENST00000254181	NM_020903.2	310	Gct/Act	0	1	1	UPI0000137A01	0	getma.org/pdb.php?prot=UBP29_HUMAN&from=282&to=882&var=A310T	ENST00000254181		ENSG00000131864	18563		44	1.535		HGNC	p.A310T		USP29		SNV							ENST00000254181	protein_coding	getma.org/?cm=var&var=hg19,19,57640971,G,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		A/T		A	low	1382/3705		getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=282&re=882&var=A310T	deleterious(0.05)	M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,missense_variant,p.Ala310Thr,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Ala310Thr,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;							MODERATE	928/2769	A310T	UBP29_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000254181		CCDS33124.1			1	
TMEM68	0	LGGM	GRCh37	8	56668875	56668875	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	59	9	.	.	ENST00000334667.2:c.421A>G	p.Met141Val	p.M141V	ENST00000334667	NM_152417.1	141	Atg/Gtg	0	1		UPI000004C2AC	0	NA	ENST00000434581		ENSG00000167904	26510		68	1.055		HGNC	p.M141V	rs763067106	TMEM68		SNV							ENST00000434581	protein_coding	getma.org/?cm=var&var=hg19,8,56668875,T,C&fts=all		Superfamily_domains:0039877,Pfam_domain:PF01553,hmmpanther:PTHR22753,Transmembrane_helices:TMhelix		M/V		C	low	621/2549	6.05E-05	getma.org/?cm=msa&ty=f&p=TMM68_HUMAN&rb=109&re=237&var=M141V	tolerated(0.38)	Q49A68_HUMAN,E5RJI9_HUMAN,E5RJ96_HUMAN,E5RHU1_HUMAN,E5RHI6_HUMAN				TMEM68,missense_variant,p.Met141Val,ENST00000434581,NM_001286657.1;TMEM68,missense_variant,p.Met141Val,ENST00000334667,NM_152417.1;TMEM68,missense_variant,p.Met27Val,ENST00000519784,;TMEM68,missense_variant,p.Met141Val,ENST00000522090,;TMEM68,missense_variant,p.Met141Val,ENST00000523423,;TMEM68,missense_variant,p.Met27Val,ENST00000519780,;TMEM68,missense_variant,p.Met27Val,ENST00000523073,;TMEM68,intron_variant,,ENST00000522030,;TMEM68,downstream_gene_variant,,ENST00000521229,NM_001286660.1;TMEM68,downstream_gene_variant,,ENST00000520414,;TMEM68,missense_variant,p.Met24Val,ENST00000517576,;TMEM68,missense_variant,p.Met80Val,ENST00000520061,;TMEM68,non_coding_transcript_exon_variant,,ENST00000524121,;							MODERATE	421/975	M141V	TMM68_HUMAN			Transcript		benign(0.004)	.	ENSP00000395204	3.30E-05				1	
GPR98	0	LGGM	GRCh37	5	89923283	89923283	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	223	9	.	.	ENST00000405460.2:c.928G>T	p.Gly310Trp	p.G310W	ENST00000405460	NM_032119.3	310	Ggg/Tgg	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=238&to=437&var=G310W	ENST00000405460		ENSG00000164199	17416		232	2.26		HGNC	p.G310W		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89923283,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		G/W		T	medium	1024/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=238&re=437&var=G310W					YES	GPR98,missense_variant,p.Gly310Trp,ENST00000405460,NM_032119.3;GPR98,upstream_gene_variant,,ENST00000504142,;GPR98,downstream_gene_variant,,ENST00000508842,;							MODERATE	928/18921	G310W	GPR98_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000384582		CCDS47246.1			1	
CR1L	0	LGGM	GRCh37	1	207890925	207890925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	180	9	.	.	ENST00000508064.2:c.1531G>T	p.Gly511Trp	p.G511W	ENST00000508064	NM_175710.1	511	Ggg/Tgg	0	1	1	UPI0000DD792A	0	getma.org/pdb.php?prot=CR1L_HUMAN&from=475&to=541&var=G511W	ENST00000508064		ENSG00000197721	2335		189	3.22		HGNC	p.G511W		CR1L		SNV							ENST00000508064	protein_coding	getma.org/?cm=var&var=hg19,1,207890925,G,T&fts=all		Superfamily_domains:SSF57535,SMART_domains:SM00032,Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF322,PROSITE_profiles:PS50923		G/W		T	medium	1591/1788		getma.org/?cm=msa&ty=f&p=CR1L_HUMAN&rb=475&re=541&var=G511W	tolerated(0.07)				YES	CR1L,missense_variant,p.Gly511Trp,ENST00000508064,NM_175710.1;CR1L,3_prime_UTR_variant,,ENST00000294997,;							MODERATE	1531/1710	G511W	CR1L_HUMAN			Transcript		possibly_damaging(0.83)	.	ENSP00000421736		CCDS44310.1			1	
OSGIN2	0	LGGM	GRCh37	8	90933385	90933385	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	123	9	.	.	ENST00000451899.2:c.606A>T	p.Val202=	p.V202=	ENST00000451899	NM_001126111.1	202	gtA/gtT	0	1		UPI00001275EC	0		ENST00000297438		ENSG00000164823	1355		132			HGNC	p.V202V		OSGIN2		SNV							ENST00000520659	protein_coding			hmmpanther:PTHR15192:SF4,hmmpanther:PTHR15192,Pfam_domain:PF13738,Superfamily_domains:SSF51905		V		T		829/4209								OSGIN2,synonymous_variant,p.=,ENST00000451899,NM_001126111.1;OSGIN2,synonymous_variant,p.=,ENST00000297438,NM_004337.2;OSGIN2,synonymous_variant,p.=,ENST00000520659,;							LOW	474/1518		OSGI2_HUMAN			Transcript			.	ENSP00000297438		CCDS6248.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144873903	144873903	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	207	9	.	.	ENST00000369356.4:c.5054C>A	p.Pro1685His	p.P1685H	ENST00000369356	NM_014644.5	1685	cCc/cAc	0	1		UPI0000251FAA	0	NA	ENST00000369354		ENSG00000178104	15580		216	1.43		HGNC	p.P1685H	rs781843454	PDE4DIP	6.06E-05	SNV				0.000288			ENST00000369356	protein_coding	getma.org/?cm=var&var=hg19,1,144873903,G,T&fts=all		hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2		P/H		T	low	5244/8262		getma.org/?cm=msa&ty=f&p=MYOME_HUMAN&rb=1627&re=1899&var=P1685H		I1VE15_HUMAN				PDE4DIP,missense_variant,p.Pro1821His,ENST00000369359,;PDE4DIP,missense_variant,p.Pro1685His,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,missense_variant,p.Pro1685His,ENST00000369354,;PDE4DIP,missense_variant,p.Pro1641His,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,;							MODERATE	5054/7041	P1685H	MYOME_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000358360	3.29E-05	CCDS30824.1			1	
TSR1	0	LGGM	GRCh37	17	2227584	2227584	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	9	.	.	ENST00000301364.5:c.2321T>A	p.Phe774Tyr	p.F774Y	ENST00000301364	NM_018128.4	774	tTc/tAc	0	1	1	UPI00002005DF	0	NA	ENST00000301364		ENSG00000167721	25542		50	0		HGNC	p.F774Y		TSR1		SNV							ENST00000301364	protein_coding	getma.org/?cm=var&var=hg19,17,2227584,A,T&fts=all		hmmpanther:PTHR12858		F/Y		T	neutral	3401/5188		getma.org/?cm=msa&ty=f&p=TSR1_HUMAN&rb=774&re=804&var=F774Y	tolerated(0.37)				YES	TSR1,missense_variant,p.Phe774Tyr,ENST00000301364,NM_018128.4;SRR,3_prime_UTR_variant,,ENST00000344595,NM_021947.1;SRR,downstream_gene_variant,,ENST00000576848,;SRR,downstream_gene_variant,,ENST00000574987,;SRR,downstream_gene_variant,,ENST00000576620,;SNORD91B,downstream_gene_variant,,ENST00000391250,NR_003073.1;SNORD91B,downstream_gene_variant,,ENST00000608459,;TSR1,downstream_gene_variant,,ENST00000575049,;							MODERATE	2321/2415	F774Y	TSR1_HUMAN			Transcript		benign(0.027)	.	ENSP00000301364		CCDS32525.1			1	
UNC79	0	LGGM	GRCh37	14	94125548	94125548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	10	.	.	ENST00000256339.4:c.6052G>T	p.Asp2018Tyr	p.D2018Y	ENST00000256339	NM_020818.3	2018	Gat/Tat	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		48	1.5		HGNC	p.D2018Y		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94125548,G,T&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		D/Y		T	low	6583/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=D2195Y	deleterious(0.02)					UNC79,missense_variant,p.Asp2217Tyr,ENST00000553484,;UNC79,missense_variant,p.Asp2156Tyr,ENST00000555664,;UNC79,missense_variant,p.Asp2018Tyr,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Asp2195Tyr,ENST00000393151,;							MODERATE	6583/7908	D2195Y	UNC79_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000376858					1	
COL12A1	0	LGGM	GRCh37	6	75892784	75892784	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	113	10	.	.	ENST00000322507.8:c.1873G>C	p.Ala625Pro	p.A625P	ENST00000322507	NM_004370.5	625	Gca/Cca	0	1	1	UPI000045890B	0	NA	ENST00000322507		ENSG00000111799	2188		123	0.345		HGNC	p.A625P		COL12A1		SNV			1				ENST00000483888	protein_coding	getma.org/?cm=var&var=hg19,6,75892784,C,G&fts=all		hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992		A/P		G	neutral	2183/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=587&re=662&var=A625P					YES	COL12A1,missense_variant,p.Ala625Pro,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Ala625Pro,ENST00000483888,;COL12A1,missense_variant,p.Ala625Pro,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;							MODERATE	1873/9192	A625P	COCA1_HUMAN			Transcript		benign(0.179)	.	ENSP00000325146		CCDS43482.1			1	
ANKZF1	0	LGGM	GRCh37	2	220100773	220100773	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	29	10	.	.	ENST00000323348.5:c.2013A>G	p.Gly671=	p.G671=	ENST00000323348	NM_018089.2	671	ggA/ggG	0	1	1	UPI000007069C	0		ENST00000323348		ENSG00000163516	25527		39			HGNC	p.G671G		ANKZF1		SNV							ENST00000410034	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16036,hmmpanther:PTHR16036:SF2		G		G		2187/2579				C9K022_HUMAN,C9JS61_HUMAN,C9JQZ3_HUMAN,B8ZZS4_HUMAN			YES	ANKZF1,synonymous_variant,p.=,ENST00000323348,NM_018089.2;ANKZF1,synonymous_variant,p.=,ENST00000410034,NM_001042410.1;ANKZF1,synonymous_variant,p.=,ENST00000409849,NM_001282792.1;GLB1L,downstream_gene_variant,,ENST00000295759,NM_001286423.1;GLB1L,downstream_gene_variant,,ENST00000392089,NM_024506.3;GLB1L,downstream_gene_variant,,ENST00000356283,NM_001286427.1;GLB1L,downstream_gene_variant,,ENST00000409640,NM_001286427.1;ANKZF1,downstream_gene_variant,,ENST00000436226,;GLB1L,downstream_gene_variant,,ENST00000440853,;ANKZF1,downstream_gene_variant,,ENST00000416565,;ANKZF1,downstream_gene_variant,,ENST00000447157,;ANKZF1,downstream_gene_variant,,ENST00000453432,;GLB1L,downstream_gene_variant,,ENST00000497855,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000463792,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000477479,;ANKZF1,non_coding_transcript_exon_variant,,ENST00000460966,;ANKZF1,downstream_gene_variant,,ENST00000465550,;ANKZF1,downstream_gene_variant,,ENST00000461731,;ANKZF1,downstream_gene_variant,,ENST00000496346,;ANKZF1,downstream_gene_variant,,ENST00000467884,;ANKZF1,downstream_gene_variant,,ENST00000486203,;ANKZF1,downstream_gene_variant,,ENST00000474225,;GLB1L,downstream_gene_variant,,ENST00000447002,;ANKZF1,downstream_gene_variant,,ENST00000491181,;ANKZF1,downstream_gene_variant,,ENST00000494886,;ANKZF1,downstream_gene_variant,,ENST00000475202,;ANKZF1,downstream_gene_variant,,ENST00000435521,;ANKZF1,downstream_gene_variant,,ENST00000493563,;ANKZF1,downstream_gene_variant,,ENST00000489580,;GLB1L,downstream_gene_variant,,ENST00000459951,;ANKZF1,downstream_gene_variant,,ENST00000468387,;GLB1L,downstream_gene_variant,,ENST00000471516,;ANKZF1,downstream_gene_variant,,ENST00000483188,;ANKZF1,downstream_gene_variant,,ENST00000490526,;							LOW	2013/2181		ANKZ1_HUMAN			Transcript			.	ENSP00000321617		CCDS42821.1			1	
USP29	0	LGGM	GRCh37	19	57640972	57640972	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	37	10	.	.	ENST00000254181.4:c.929C>A	p.Ala310Asp	p.A310D	ENST00000254181	NM_020903.2	310	gCt/gAt	0	1	1	UPI0000137A01	0	getma.org/pdb.php?prot=UBP29_HUMAN&from=282&to=882&var=A310D	ENST00000254181		ENSG00000131864	18563		47	2.43		HGNC	p.A310D		USP29		SNV							ENST00000254181	protein_coding	getma.org/?cm=var&var=hg19,19,57640972,C,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		A/D		A	medium	1383/3705		getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=282&re=882&var=A310D	deleterious(0)	M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,missense_variant,p.Ala310Asp,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Ala310Asp,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;							MODERATE	929/2769	A310D	UBP29_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000254181		CCDS33124.1			1	
CHEK1	0	LGGM	GRCh37	11	125497695	125497695	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	38	10	.	.	ENST00000428830.2:c.259T>C	p.Cys87Arg	p.C87R	ENST00000428830	NM_001114121.2	87	Tgt/Cgt	0	1		UPI000013DBA3	0	getma.org/pdb.php?prot=CHK1_HUMAN&from=9&to=265&var=C87R	ENST00000428830		ENSG00000149554	1925		48	2.73		HGNC	p.C87R		CHEK1		SNV							ENST00000527013	protein_coding	getma.org/?cm=var&var=hg19,11,125497695,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24344,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		C/R		C	medium	318/1845		getma.org/?cm=msa&ty=f&p=CHK1_HUMAN&rb=9&re=265&var=C87R	deleterious(0)	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN				CHEK1,missense_variant,p.Cys87Arg,ENST00000534070,NM_001274.5;CHEK1,missense_variant,p.Cys87Arg,ENST00000438015,NM_001244846.1,NM_001114122.2;CHEK1,missense_variant,p.Cys87Arg,ENST00000428830,NM_001114121.2;CHEK1,missense_variant,p.Cys87Arg,ENST00000524737,;CHEK1,missense_variant,p.Cys87Arg,ENST00000278916,;CHEK1,missense_variant,p.Cys87Arg,ENST00000544373,;CHEK1,missense_variant,p.Cys87Arg,ENST00000525396,;CHEK1,missense_variant,p.Cys87Arg,ENST00000527013,;CHEK1,missense_variant,p.Cys87Arg,ENST00000534685,;CHEK1,missense_variant,p.Cys87Arg,ENST00000526937,;CHEK1,intron_variant,,ENST00000427383,;CHEK1,intron_variant,,ENST00000532669,;STT3A,downstream_gene_variant,,ENST00000392708,NM_001278503.1,NM_152713.4,NM_001278504.1;CHEK1,downstream_gene_variant,,ENST00000533778,;CHEK1,non_coding_transcript_exon_variant,,ENST00000531607,;CHEK1,intron_variant,,ENST00000532449,;CHEK1,intron_variant,,ENST00000528761,;STT3A,downstream_gene_variant,,ENST00000526364,;							MODERATE	259/1431	C87R	CHK1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000412504		CCDS8459.1			1	
ZNF35	0	LGGM	GRCh37	3	44700313	44700313	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	97	10	.	.	ENST00000396056.2:c.458G>A	p.Gly153Glu	p.G153E	ENST00000396056	NM_003420.3	153	gGa/gAa	0	1	1	UPI000020A5BF	0	NA	ENST00000396056		ENSG00000169981	13099		107	0.895		HGNC	p.G153E		ZNF35		SNV							ENST00000396056	protein_coding	getma.org/?cm=var&var=hg19,3,44700313,G,A&fts=all		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF60		G/E		A	low	693/2661		getma.org/?cm=msa&ty=f&p=ZNF35_HUMAN&rb=1&re=200&var=G153E	tolerated(0.11)	C9JGS9_HUMAN,C9JGR2_HUMAN,B4DUB8_HUMAN			YES	ZNF35,missense_variant,p.Gly153Glu,ENST00000396056,NM_003420.3;ZNF35,3_prime_UTR_variant,,ENST00000296092,;ZNF35,5_prime_UTR_variant,,ENST00000542250,;ZNF35,3_prime_UTR_variant,,ENST00000453164,;ZNF35,3_prime_UTR_variant,,ENST00000399560,;ZNF35,downstream_gene_variant,,ENST00000415571,;RP11-944L7.4,intron_variant,,ENST00000457331,;							MODERATE	458/1584	G153E	ZNF35_HUMAN			Transcript		benign(0.004)	.	ENSP00000379368		CCDS2718.2			1	
IL6ST	0	LGGM	GRCh37	5	55264112	55264112	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	51	10	.	.	ENST00000381298.2:c.483A>G	p.Lys161=	p.K161=	ENST00000381298	NM_175767.2	161	aaA/aaG	0	1		UPI000013CF29	0		ENST00000336909		ENSG00000134352	6021		61			HGNC	p.K161K		IL6ST		SNV							ENST00000522633	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF09240,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF25,SMART_domains:SM00060,Superfamily_domains:SSF49265		K		C		519/8750								IL6ST,synonymous_variant,p.=,ENST00000381298,NM_175767.2,NM_002184.3,NM_001190981.1;IL6ST,synonymous_variant,p.=,ENST00000336909,;IL6ST,synonymous_variant,p.=,ENST00000381287,;IL6ST,synonymous_variant,p.=,ENST00000502326,;IL6ST,synonymous_variant,p.=,ENST00000381294,;IL6ST,synonymous_variant,p.=,ENST00000536319,;IL6ST,synonymous_variant,p.=,ENST00000522633,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,intron_variant,,ENST00000396816,;IL6ST,intron_variant,,ENST00000577363,;IL6ST,synonymous_variant,p.=,ENST00000503773,;							LOW	483/2757		IL6RB_HUMAN			Transcript			.	ENSP00000338799		CCDS3971.1			1	
SERPINH1	0	LGGM	GRCh37	11	75280063	75280063	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	10	.	.	ENST00000524558.1:c.801C>G	p.Leu267=	p.L267=	ENST00000524558		267	ctC/ctG	0	1		UPI00001271B6	0		ENST00000358171		ENSG00000149257	1546		51			HGNC	p.L50L		SERPINH1		SNV			1				ENST00000525876	protein_coding			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF27,SMART_domains:SM00093,Superfamily_domains:SSF56574		L		G		1069/2225				Q9NPA9_HUMAN,E9PRS3_HUMAN,E9PR70_HUMAN,E9PNX1_HUMAN,E9PMI5_HUMAN,E9PKH2_HUMAN,E9PK86_HUMAN,E9PJH8_HUMAN,E9PIG2_HUMAN,B4DN87_HUMAN				SERPINH1,synonymous_variant,p.=,ENST00000524558,;SERPINH1,synonymous_variant,p.=,ENST00000533603,NM_001207014.1;SERPINH1,synonymous_variant,p.=,ENST00000525876,;SERPINH1,synonymous_variant,p.=,ENST00000358171,NM_001235.3;SERPINH1,synonymous_variant,p.=,ENST00000530284,;SERPINH1,synonymous_variant,p.=,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000529643,;SERPINH1,downstream_gene_variant,,ENST00000528990,;SERPINH1,downstream_gene_variant,,ENST00000533449,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000526242,;SERPINH1,upstream_gene_variant,,ENST00000526638,;							LOW	801/1257		SERPH_HUMAN			Transcript			.	ENSP00000350894		CCDS8239.1			1	
OSBPL10	0	LGGM	GRCh37	3	31921223	31921223	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	11	.	.	ENST00000396556.2:c.381C>T	p.Ala127=	p.A127=	ENST00000396556	NM_017784.4	127	gcC/gcT	0	1	1	UPI0000130E9B	0		ENST00000396556		ENSG00000144645	16395		39			HGNC	p.A127A		OSBPL10		SNV							ENST00000438237	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF15409,PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47,SMART_domains:SM00233,Superfamily_domains:SSF50729		A		A		504/6600							YES	OSBPL10,synonymous_variant,p.=,ENST00000396556,NM_017784.4;OSBPL10,synonymous_variant,p.=,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,;							LOW	381/2295		OSB10_HUMAN			Transcript			.	ENSP00000379804		CCDS2651.1			1	
GCA	0	LGGM	GRCh37	2	163204195	163204195	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	33	11	.	.	ENST00000437150.2:c.135C>T	p.Asp45=	p.D45=	ENST00000437150	NM_012198.3	45	gaC/gaT	0	1	1	UPI000012BA7D	0		ENST00000437150		ENSG00000115271	15990		44			HGNC	p.D26D		GCA		SNV							ENST00000453113	protein_coding			hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF139		D		T		296/1992				H7BXD5_HUMAN,C9JIZ3_HUMAN			YES	GCA,synonymous_variant,p.=,ENST00000437150,NM_012198.3;GCA,synonymous_variant,p.=,ENST00000233612,;GCA,synonymous_variant,p.=,ENST00000429691,;GCA,synonymous_variant,p.=,ENST00000446271,;GCA,synonymous_variant,p.=,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,;							LOW	135/654		GRAN_HUMAN			Transcript			.	ENSP00000394842		CCDS2218.1			1	
CHD7	0	LGGM	GRCh37	8	61763845	61763845	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	62	11	.	.	ENST00000423902.2:c.5632G>A	p.Asp1878Asn	p.D1878N	ENST00000423902	NM_017780.3	1878	Gat/Aat	0	1	1	UPI0000251DA6	0	NA	ENST00000423902		ENSG00000171316	20626		73	1.245		HGNC	p.D1878N	COSM1100846,COSM1100844	CHD7		SNV			1			1,1	ENST00000307121	protein_coding	getma.org/?cm=var&var=hg19,8,61763845,G,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551		D/N		A	low	6111/10446		getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=1805&re=2004&var=D1878N		H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,missense_variant,p.Asp1878Asn,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;CHD7,non_coding_transcript_exon_variant,,ENST00000527921,;CHD7,upstream_gene_variant,,ENST00000529472,;					1,1		MODERATE	5632/8994	D1878N	CHD7_HUMAN			Transcript		benign(0.212)	.	ENSP00000392028		CCDS47865.1			1	
EML4	0	LGGM	GRCh37	2	42556118	42556118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	31	11	.	.	ENST00000318522.5:c.2434A>G	p.Lys812Glu	p.K812E	ENST00000318522	NM_019063.3	812	Aaa/Gaa	0	1	1	UPI0000140350	0	NA	ENST00000318522		ENSG00000143924	1316		42	2.125		HGNC	p.K754E		EML4		SNV			1				ENST00000402711	protein_coding	getma.org/?cm=var&var=hg19,2,42556118,A,G&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		K/E		G	medium	2696/5549		getma.org/?cm=msa&ty=f&p=EMAL4_HUMAN&rb=750&re=823&var=K812E	deleterious(0)	F2Z2B5_HUMAN			YES	EML4,missense_variant,p.Lys812Glu,ENST00000318522,NM_019063.3;EML4,missense_variant,p.Lys823Glu,ENST00000401738,;EML4,missense_variant,p.Lys754Glu,ENST00000402711,NM_001145076.1;EML4,missense_variant,p.Lys76Glu,ENST00000453191,;COX7A2L,downstream_gene_variant,,ENST00000468711,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;							MODERATE	2434/2946	K812E	EMAL4_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000320663		CCDS1807.1			1	
PNLIPRP2	0	LGGM	GRCh37	10	118385501	118385501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	96	11	.	.	ENST00000537242.1:c.249C>A	p.Phe83Leu	p.F83L	ENST00000537242	NM_005396.4	83	ttC/ttA	0	1	1	UPI0000D60FDD	0		ENST00000537242		ENSG00000165862	9157		107			HGNC	p.F83L		PNLIPRP2		SNV							ENST00000537242	protein_coding			hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821,Prints_domain:PR00823		F/L		A		275/1479			deleterious(0.01)	F5H1V6_HUMAN			YES	PNLIPRP2,missense_variant,p.Phe83Leu,ENST00000537242,NM_005396.4;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000298771,;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000429325,;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000444825,;PNLIPRP2,missense_variant,p.Ser83Tyr,ENST00000433618,;							MODERATE	249/1407					Transcript		possibly_damaging(0.687)	.	ENSP00000446346					1	
DNAH9	0	LGGM	GRCh37	17	11604491	11604491	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	37	11	.	.	ENST00000262442.4:c.5078A>C	p.His1693Pro	p.H1693P	ENST00000262442	NM_001372.3	1693	cAt/cCt	0	1	1	UPI0000141BA2	0	getma.org/pdb.php?prot=DYH9_HUMAN&from=1290&to=1703&var=H1693P	ENST00000262442		ENSG00000007174	2953		48	2.945		HGNC	p.H1693P		DNAH9		SNV							ENST00000454412	protein_coding	getma.org/?cm=var&var=hg19,17,11604491,A,C&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08393		H/P		C	medium	5146/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=1290&re=1703&var=H1693P		Q92865_HUMAN			YES	DNAH9,missense_variant,p.His1693Pro,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.His1693Pro,ENST00000454412,;DNAH9,upstream_gene_variant,,ENST00000583192,;							MODERATE	5078/13461	H1693P	DYH9_HUMAN			Transcript		benign(0.027)	.	ENSP00000262442		CCDS11160.1			1	
KRTAP9-8	0	LGGM	GRCh37	17	39394592	39394592	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	124	12	.	.	ENST00000254072.6:c.289G>A	p.Ala97Thr	p.A97T	ENST00000254072	NM_031963.2	97	Gca/Aca	0	1	1	UPI000013CE12	0	NA	ENST00000254072		ENSG00000187272	17231		136	0.69		HGNC	p.A97T	rs539070082	KRTAP9-8		SNV							ENST00000254072	protein_coding	getma.org/?cm=var&var=hg19,17,39394592,G,A&fts=all	A:0	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF36,Pfam_domain:PF13885		A/T		A	neutral	296/960	1.50E-05	getma.org/?cm=msa&ty=f&p=KRA98_HUMAN&rb=65&re=109&var=A97T	tolerated(0.6)		A:0	A:0	YES	KRTAP9-8,missense_variant,p.Ala97Thr,ENST00000254072,NM_031963.2;KRTAP9-3,downstream_gene_variant,,ENST00000411528,NM_031962.2;		A:0.0002					MODERATE	289/480	A97T	KRA98_HUMAN		A:0.001	Transcript		benign(0.432)	.	ENSP00000254072	8.27E-06	CCDS42334.1		A:0	1	
GJA1	0	LGGM	GRCh37	6	121768726	121768726	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	57	12	.	.	ENST00000282561.3:c.733G>T	p.Asp245Tyr	p.D245Y	ENST00000282561	NM_000165.3	245	Gac/Tac	0	1	1	UPI000013DCEC	0	getma.org/pdb.php?prot=CXA1_HUMAN&from=232&to=292&var=D245Y	ENST00000282561		ENSG00000152661	4274		69	0.55		HGNC	p.D245Y		GJA1		SNV			1				ENST00000282561	protein_coding	getma.org/?cm=var&var=hg19,6,121768726,G,T&fts=all		hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF33		D/Y		T	neutral	890/3037		getma.org/?cm=msa&ty=f&p=CXA1_HUMAN&rb=232&re=292&var=D245Y	deleterious(0.02)	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN			YES	GJA1,missense_variant,p.Asp245Tyr,ENST00000282561,NM_000165.3;							MODERATE	733/1149	D245Y	CXA1_HUMAN			Transcript		possibly_damaging(0.496)	.	ENSP00000282561		CCDS5123.1			1	
SORL1	0	LGGM	GRCh37	11	121348846	121348846	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	12	.	.	ENST00000260197.7:c.422A>G	p.Tyr141Cys	p.Y141C	ENST00000260197	NM_003105.5	141	tAt/tGt	0	1	1	UPI000013D0B1	0	getma.org/pdb.php?prot=SORL_HUMAN&from=35&to=753&var=Y141C	ENST00000260197		ENSG00000137642	11185		53	2.75		HGNC	p.Y141C		SORL1		SNV			1				ENST00000260197	protein_coding	getma.org/?cm=var&var=hg19,11,121348846,A,G&fts=all		Gene3D:2.130.10.140,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602,Superfamily_domains:SSF110296		Y/C		G	medium	551/10904		getma.org/?cm=msa&ty=f&p=SORL_HUMAN&rb=35&re=753&var=Y141C	deleterious(0)	E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,missense_variant,p.Tyr141Cys,ENST00000260197,NM_003105.5;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;							MODERATE	422/6645	Y141C	SORL_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000260197		CCDS8436.1			1	
SF3B1	0	LGGM	GRCh37	2	198266710	198266710	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	13	.	.	ENST00000335508.6:c.2222A>C	p.Lys741Thr	p.K741T	ENST00000335508	NM_012433.2	741	aAg/aCg	0	1	1	UPI000013D493	0	NA	ENST00000335508		ENSG00000115524	10768		41	3.78		HGNC	p.K741T	COSM1614097	SF3B1		SNV			1			1	ENST00000335508	protein_coding	getma.org/?cm=var&var=hg19,2,198266710,T,G&fts=all		hmmpanther:PTHR12097,Superfamily_domains:SSF48371		K/T		G	high	2314/6526		getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=658&re=857&var=K741T	deleterious(0)	Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,missense_variant,p.Lys741Thr,ENST00000335508,NM_012433.2;SF3B1,upstream_gene_variant,,ENST00000424674,;SNORA4,upstream_gene_variant,,ENST00000365564,;SF3B1,downstream_gene_variant,,ENST00000462613,;SF3B1,upstream_gene_variant,,ENST00000496458,;					1		MODERATE	2222/3915	K741T	SF3B1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000335321		CCDS33356.1			1	
LGALS3	0	LGGM	GRCh37	14	55609325	55609325	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	49	13	.	.	ENST00000254301.9:c.455G>T	p.Gly152Val	p.G152V	ENST00000254301	NM_002306.3	152	gGg/gTg	0	1	1	UPI000004E613	0	getma.org/pdb.php?prot=LEG3_HUMAN&from=117&to=247&var=G152V	ENST00000254301		ENSG00000131981	6563		62	3.94		HGNC	p.G152V		LGALS3		SNV							ENST00000554715	protein_coding	getma.org/?cm=var&var=hg19,14,55609325,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899		G/V		T	high	716/1146		getma.org/?cm=msa&ty=f&p=LEG3_HUMAN&rb=117&re=247&var=G152V	deleterious(0)	Q8IXB9_HUMAN,Q86TY5_HUMAN,G3V407_HUMAN			YES	LGALS3,missense_variant,p.Gly152Val,ENST00000254301,NM_002306.3;LGALS3,missense_variant,p.Gly152Val,ENST00000554715,;LGALS3,downstream_gene_variant,,ENST00000553493,;LGALS3,non_coding_transcript_exon_variant,,ENST00000553755,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556322,;LGALS3,downstream_gene_variant,,ENST00000556263,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556438,;							MODERATE	455/753	G152V	LEG3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000254301		CCDS41956.1			1	
LGALS3	0	LGGM	GRCh37	14	55609324	55609324	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	49	13	.	.	ENST00000254301.9:c.454G>T	p.Gly152Trp	p.G152W	ENST00000254301	NM_002306.3	152	Ggg/Tgg	0	1	1	UPI000004E613	0	getma.org/pdb.php?prot=LEG3_HUMAN&from=117&to=247&var=G152W	ENST00000254301		ENSG00000131981	6563		62	3.94		HGNC	p.G152W		LGALS3		SNV							ENST00000554715	protein_coding	getma.org/?cm=var&var=hg19,14,55609324,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00337,PROSITE_profiles:PS51304,hmmpanther:PTHR11346,SMART_domains:SM00276,SMART_domains:SM00908,Superfamily_domains:SSF49899		G/W		T	high	715/1146		getma.org/?cm=msa&ty=f&p=LEG3_HUMAN&rb=117&re=247&var=G152W	deleterious(0)	Q8IXB9_HUMAN,Q86TY5_HUMAN,G3V407_HUMAN			YES	LGALS3,missense_variant,p.Gly152Trp,ENST00000254301,NM_002306.3;LGALS3,missense_variant,p.Gly152Trp,ENST00000554715,;LGALS3,downstream_gene_variant,,ENST00000553493,;LGALS3,non_coding_transcript_exon_variant,,ENST00000553755,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556322,;LGALS3,downstream_gene_variant,,ENST00000556263,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556438,;							MODERATE	454/753	G152W	LEG3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254301		CCDS41956.1			1	
ANKUB1	0	LGGM	GRCh37	3	149498159	149498159	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	14	.	.	ENST00000446160.1:c.318T>C	p.Asp106=	p.D106=	ENST00000446160	NM_001144960.1	106	gaT/gaC	0	1	1	UPI0000DD7B6F	0		ENST00000446160		ENSG00000206199	29642		50			HGNC	p.D106D		ANKUB1		SNV							ENST00000383050	protein_coding			hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF111		D		G		775/2471				E9PHT4_HUMAN			YES	ANKUB1,synonymous_variant,p.=,ENST00000446160,NM_001144960.1;ANKUB1,synonymous_variant,p.=,ENST00000462519,;ANKUB1,synonymous_variant,p.=,ENST00000383050,;RNU6-507P,upstream_gene_variant,,ENST00000516045,;ANKUB1,non_coding_transcript_exon_variant,,ENST00000462561,;ANKUB1,non_coding_transcript_exon_variant,,ENST00000481585,;ANKUB1,non_coding_transcript_exon_variant,,ENST00000474224,;ANKUB1,downstream_gene_variant,,ENST00000497728,;ANKUB1,3_prime_UTR_variant,,ENST00000484019,;ANKUB1,non_coding_transcript_exon_variant,,ENST00000474404,;							LOW	318/1635					Transcript			.	ENSP00000387907					1	
PDZD9	0	LGGM	GRCh37	16	21995912	21995912	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	14	.	.	ENST00000537222.2:c.291T>C	p.Asp97=	p.D97=	ENST00000537222	NM_173806.3	97	gaT/gaC	0	1		UPI0000EADF1E	0		ENST00000424898		ENSG00000155714	28740		55			HGNC	p.D97D		PDZD9		SNV							ENST00000537222	protein_coding			hmmpanther:PTHR22698		D		G		534/1260								PDZD9,synonymous_variant,p.=,ENST00000286143,;PDZD9,synonymous_variant,p.=,ENST00000424898,;PDZD9,synonymous_variant,p.=,ENST00000537222,NM_173806.3;UQCRC2,downstream_gene_variant,,ENST00000268379,NM_003366.2;UQCRC2,downstream_gene_variant,,ENST00000561553,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000563898,;UQCRC2,downstream_gene_variant,,ENST00000561798,;							LOW	471/795		PDZD9_HUMAN			Transcript			.	ENSP00000400514					1	
ZMYM6	0	LGGM	GRCh37	1	35476393	35476393	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	14	.	.	ENST00000357182.4:c.1307T>C	p.Leu436Pro	p.L436P	ENST00000357182	NM_007167.3	436	cTa/cCa	0	1	1	UPI000040EBC6	0	NA	ENST00000357182		ENSG00000163867	13050		50	2.34		HGNC	p.L436P		ZMYM6		SNV							ENST00000487874	protein_coding	getma.org/?cm=var&var=hg19,1,35476393,A,G&fts=all		Pfam_domain:PF06467,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF92,SMART_domains:SM00746		L/P		G	medium	1535/4330		getma.org/?cm=msa&ty=f&p=ZMYM6_HUMAN&rb=423&re=462&var=L436P	deleterious(0.03)	Q7L9K1_HUMAN,A4Z946_HUMAN			YES	ZMYM6,missense_variant,p.Leu436Pro,ENST00000357182,NM_007167.3;ZMYM6,missense_variant,p.Leu436Pro,ENST00000373340,;ZMYM6,downstream_gene_variant,,ENST00000415531,;ZMYM6,non_coding_transcript_exon_variant,,ENST00000493328,;ZMYM6,non_coding_transcript_exon_variant,,ENST00000472971,;ZMYM6,upstream_gene_variant,,ENST00000466345,;RP11-244H3.4,missense_variant,p.Leu436Pro,ENST00000487874,;							MODERATE	1307/3978	L436P	ZMYM6_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000349708		CCDS387.2			1	
ZNF578	0	LGGM	GRCh37	19	53014518	53014518	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	207	14	.	.	ENST00000421239.2:c.884C>T	p.Ser295Phe	p.S295F	ENST00000421239	NM_001099694.1	295	tCc/tTc	0	1	1	UPI000048A457	0	getma.org/pdb.php?prot=ZN578_HUMAN&from=48&to=73&var=S70F	ENST00000421239		ENSG00000258405	26449		221	2.645		HGNC	p.S295F		ZNF578		SNV							ENST00000421239	protein_coding	getma.org/?cm=var&var=hg19,19,53014518,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		S/F		T	medium	1128/2017		getma.org/?cm=msa&ty=f&p=ZN578_HUMAN&rb=28&re=93&var=S70F	tolerated(0.12)	M0QZV4_HUMAN			YES	ZNF578,missense_variant,p.Ser295Phe,ENST00000421239,NM_001099694.1;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,downstream_gene_variant,,ENST00000599143,;							MODERATE	884/1773	S70F	ZN578_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000459216		CCDS54310.1			1	
CYP3A4	0	LGGM	GRCh37	7	99375665	99375665	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	65	14	.	.	ENST00000336411.2:c.204T>C	p.Tyr68=	p.Y68=	ENST00000336411	NM_001202855.2	68	taT/taC	0	1	1	UPI000013E0B7	0		ENST00000336411		ENSG00000160868	2637		79			HGNC	p.Y68Y	rs761652923	CYP3A4	6.06E-05	SNV			1				ENST00000336411	protein_coding			hmmpanther:PTHR24302,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		Y		G		388/2153				Q9BZM0_HUMAN,Q7Z448_HUMAN,Q6GRK0_HUMAN,B4DPQ5_HUMAN			YES	CYP3A4,synonymous_variant,p.=,ENST00000336411,NM_001202855.2,NM_017460.5;CYP3A4,synonymous_variant,p.=,ENST00000415003,;CYP3A4,intron_variant,,ENST00000354593,;CYP3A4,non_coding_transcript_exon_variant,,ENST00000480043,;							LOW	204/1512		CP3A4_HUMAN			Transcript			.	ENSP00000337915	8.24E-06	CCDS5674.1			1	
SMAD1	0	LGGM	GRCh37	4	146436021	146436021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	23	15	.	.	ENST00000515385.1:c.256G>A	p.Val86Ile	p.V86I	ENST00000515385		86	Gtc/Atc	0	1		UPI0000135A76	0	getma.org/pdb.php?prot=SMAD1_HUMAN&from=30&to=131&var=V86I	ENST00000302085		ENSG00000170365	6767		38	2.89		HGNC	p.V86I		SMAD1		SNV							ENST00000514778	protein_coding	getma.org/?cm=var&var=hg19,4,146436021,G,A&fts=all		Superfamily_domains:0040928,SMART_domains:SM00523,Gene3D:1ozjA00,Pfam_domain:PF03165,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF23,PROSITE_profiles:PS51075		V/I		A	medium	679/1966		getma.org/?cm=msa&ty=f&p=SMAD1_HUMAN&rb=30&re=131&var=V86I	deleterious(0.04)	D6REQ3_HUMAN,D6RDN7_HUMAN,D6RD62_HUMAN,D6RBH9_HUMAN,D6RAY1_HUMAN				SMAD1,missense_variant,p.Val86Ile,ENST00000515385,;SMAD1,missense_variant,p.Val86Ile,ENST00000302085,NM_005900.2;SMAD1,missense_variant,p.Val86Ile,ENST00000394092,NM_001003688.1;SMAD1,missense_variant,p.Val86Ile,ENST00000512019,;SMAD1,missense_variant,p.Val86Ile,ENST00000514778,;SMAD1,missense_variant,p.Val86Ile,ENST00000514831,;SMAD1,missense_variant,p.Val86Ile,ENST00000507594,;SMAD1,downstream_gene_variant,,ENST00000503324,;SMAD1,downstream_gene_variant,,ENST00000507367,;SMAD1-AS1,non_coding_transcript_exon_variant,,ENST00000513542,;SMAD1,downstream_gene_variant,,ENST00000515527,;SMAD1,downstream_gene_variant,,ENST00000514168,;SMAD1,downstream_gene_variant,,ENST00000506626,;							MODERATE	256/1398	V86I	SMAD1_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000305769		CCDS3765.1			1	
MLXIP	0	LGGM	GRCh37	12	122625587	122625587	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	39	15	.	.	ENST00000319080.7:c.2595C>T	p.Leu865=	p.L865=	ENST00000319080	NM_014938.4_dupl16	865	ctC/ctT	0	1	1	UPI0000D6226F	0		ENST00000319080		ENSG00000175727	17055		54			HGNC	p.L472L	rs767393514	MLXIP		SNV							ENST00000538698	protein_coding			hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23		L		T		2727/8427	3.03E-05			F5H321_HUMAN			YES	MLXIP,synonymous_variant,p.=,ENST00000319080,NM_014938.4_dupl16;MLXIP,synonymous_variant,p.=,ENST00000538698,;MLXIP,downstream_gene_variant,,ENST00000366272,;MLXIP,downstream_gene_variant,,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000541750,;							LOW	2595/2760		MLXIP_HUMAN			Transcript			.	ENSP00000312834	1.65E-05				1	
EML4	0	LGGM	GRCh37	2	42556095	42556095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	36	15	.	.	ENST00000318522.5:c.2411T>C	p.Ile804Thr	p.I804T	ENST00000318522	NM_019063.3	804	aTa/aCa	0	1	1	UPI0000140350	0	NA	ENST00000318522		ENSG00000143924	1316		51	1.355		HGNC	p.I746T		EML4		SNV			1				ENST00000402711	protein_coding	getma.org/?cm=var&var=hg19,2,42556095,T,C&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		I/T		C	low	2673/5549		getma.org/?cm=msa&ty=f&p=EMAL4_HUMAN&rb=750&re=823&var=I804T	deleterious(0)	F2Z2B5_HUMAN			YES	EML4,missense_variant,p.Ile804Thr,ENST00000318522,NM_019063.3;EML4,missense_variant,p.Ile815Thr,ENST00000401738,;EML4,missense_variant,p.Ile746Thr,ENST00000402711,NM_001145076.1;EML4,missense_variant,p.Ile68Thr,ENST00000453191,;COX7A2L,downstream_gene_variant,,ENST00000468711,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;							MODERATE	2411/2946	I804T	EMAL4_HUMAN			Transcript		benign(0.211)	.	ENSP00000320663		CCDS1807.1			1	
DNAH14	0	LGGM	GRCh37	1	225152221	225152221	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	148	16	.	.	ENST00000400952.3:c.408A>G	p.Leu136=	p.L136=	ENST00000400952	NM_001145154.1	136	ctA/ctG	0	1		UPI0001642868	0		ENST00000445597		ENSG00000185842	2945		164			HGNC	p.L136L	COSM1295918,COSM1295920,COSM1295919	DNAH14		SNV						1,1,1	ENST00000366848	protein_coding					L		G		789/10524				C9JU64_HUMAN				DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;DNAH14,synonymous_variant,p.=,ENST00000366849,;DNAH14,synonymous_variant,p.=,ENST00000400952,NM_001145154.1;DNAH14,synonymous_variant,p.=,ENST00000366850,NM_144989.2;DNAH14,synonymous_variant,p.=,ENST00000366848,;DNAH14,synonymous_variant,p.=,ENST00000433124,;DNAH14,downstream_gene_variant,,ENST00000498360,;DNAH14,upstream_gene_variant,,ENST00000453375,;DNAH14,non_coding_transcript_exon_variant,,ENST00000486657,;DNAH14,upstream_gene_variant,,ENST00000474127,;					1,1,1		LOW	789/10524		DYH14_HUMAN			Transcript			.	ENSP00000409472					1	
ANKRD12	0	LGGM	GRCh37	18	9258057	9258057	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	43	17	.	.	ENST00000262126.4:c.4792A>G	p.Thr1598Ala	p.T1598A	ENST00000262126	NM_015208.4	1598	Acc/Gcc	0	1	1	UPI0000073327	0	NA	ENST00000262126		ENSG00000101745	29135		60	-0.345		HGNC	p.T1575A		ANKRD12		SNV							ENST00000383440	protein_coding	getma.org/?cm=var&var=hg19,18,9258057,A,G&fts=all		hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149		T/A		G	neutral	5032/11288		getma.org/?cm=msa&ty=f&p=ANR12_HUMAN&rb=1311&re=1729&var=T1598A	tolerated_low_confidence(0.11)	J3QRX3_HUMAN			YES	ANKRD12,missense_variant,p.Thr1598Ala,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Thr1575Ala,ENST00000383440,NM_001083625.2;ANKRD12,missense_variant,p.Thr1575Ala,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,;							MODERATE	4792/6189	T1598A	ANR12_HUMAN			Transcript		benign(0)	.	ENSP00000262126		CCDS11843.1			1	
KIAA0355	0	LGGM	GRCh37	19	34818753	34818753	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	17	.	.	ENST00000299505.6:c.924G>T	p.Ala308=	p.A308=	ENST00000299505	NM_014686.3	308	gcG/gcT	0	1	1	UPI000013E5AD	0		ENST00000299505		ENSG00000166398	29016		59			HGNC	p.A308A		KIAA0355		SNV							ENST00000299505	protein_coding			hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2		A		T		1797/6717				U3KPV0_HUMAN,K7EPA0_HUMAN			YES	KIAA0355,synonymous_variant,p.=,ENST00000299505,NM_014686.3;KIAA0355,intron_variant,,ENST00000588338,;							LOW	924/3213		K0355_HUMAN			Transcript			.	ENSP00000299505		CCDS12436.1			1	
LRRK2	0	LGGM	GRCh37	12	40653385	40653385	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	41	17	.	.	ENST00000298910.7:c.1522A>G	p.Ile508Val	p.I508V	ENST00000298910	NM_198578.3	508	Att/Gtt	0	1	1	UPI00006C128E	0	NA	ENST00000298910		ENSG00000188906	18618		58	1.355		HGNC	p.I508V		LRRK2		SNV			1				ENST00000298910	protein_coding	getma.org/?cm=var&var=hg19,12,40653385,A,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Superfamily_domains:SSF48371		I/V		G	low	1580/9158		getma.org/?cm=msa&ty=f&p=LRRK2_HUMAN&rb=1&re=679&var=I508V	tolerated(0.41)				YES	LRRK2,missense_variant,p.Ile508Val,ENST00000298910,NM_198578.3;LRRK2,missense_variant,p.Ile508Val,ENST00000343742,;LRRK2,missense_variant,p.Ile256Val,ENST00000416796,;							MODERATE	1522/7584	I508V	LRRK2_HUMAN			Transcript		benign(0.002)	.	ENSP00000298910		CCDS31774.1			1	
VPS13C	0	LGGM	GRCh37	15	62212376	62212376	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	47	17	.	.	ENST00000261517.5:c.7367T>G	p.Val2456Gly	p.V2456G	ENST00000261517	NM_020821.2	2456	gTt/gGt	0	1	1	UPI000023B7D3	0	NA	ENST00000261517		ENSG00000129003	23594		64	2.19		HGNC	p.V2413G		VPS13C		SNV							ENST00000395898	protein_coding	getma.org/?cm=var&var=hg19,15,62212376,A,C&fts=all		hmmpanther:PTHR16166:SF69,hmmpanther:PTHR16166		V/G		C	medium	7441/13400		getma.org/?cm=msa&ty=f&p=VP13C_HUMAN&rb=2320&re=2519&var=V2456G	deleterious(0)	B4E2S9_HUMAN,B3KW10_HUMAN			YES	VPS13C,missense_variant,p.Val2456Gly,ENST00000261517,NM_020821.2;VPS13C,missense_variant,p.Val2413Gly,ENST00000249837,NM_017684.4;VPS13C,missense_variant,p.Val2456Gly,ENST00000395896,NM_001018088.2;VPS13C,missense_variant,p.Val2413Gly,ENST00000395898,NM_018080.3;VPS13C,upstream_gene_variant,,ENST00000558338,;							MODERATE	7367/11262	V2456G	VP13C_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000261517		CCDS32257.1			1	
ARAP2	0	LGGM	GRCh37	4	36121341	36121341	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	61	18	.	.	ENST00000303965.4:c.3895-1G>T		p.X1299_splice	ENST00000303965	NM_015230.3			0	1	1	UPI000013E917	0		ENST00000303965		ENSG00000047365	16924		79			HGNC	-		ARAP2		SNV							ENST00000303965	protein_coding							A		-/7514				D6RAD6_HUMAN			YES	ARAP2,splice_acceptor_variant,,ENST00000303965,NM_015230.3;							HIGH	3895/5115		ARAP2_HUMAN			Transcript			.	ENSP00000302895		CCDS3441.1			1	
RGSL1	0	LGGM	GRCh37	1	182429155	182429155	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	77	18	.	.	ENST00000294854.8:c.188G>C	p.Gly63Ala	p.G63A	ENST00000294854	NM_001137669.1	63	gGg/gCg	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		95	0.55		HGNC	p.G63A	rs551932979	RGSL1		SNV							ENST00000416676	protein_coding	getma.org/?cm=var&var=hg19,1,182429155,G,C&fts=all	C:0.0008	hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		G/A		C	neutral	208/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=1&re=200&var=G63A	tolerated(0.19)	H3BNQ0_HUMAN	C:0	C:0	YES	RGSL1,missense_variant,p.Gly63Ala,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.Gly63Ala,ENST00000542961,;RGSL1,5_prime_UTR_variant,,ENST00000437548,;RGSL1,5_prime_UTR_variant,,ENST00000447374,;RGSL1,non_coding_transcript_exon_variant,,ENST00000426890,;RGSL1,non_coding_transcript_exon_variant,,ENST00000427189,;RGSL1,missense_variant,p.Gly63Ala,ENST00000443996,;RGSL1,missense_variant,p.Gly63Ala,ENST00000422241,;RGSL1,missense_variant,p.Gly63Ala,ENST00000416676,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,non_coding_transcript_exon_variant,,ENST00000444367,;		C:0.0002					MODERATE	188/3231	G63A	RGSL_HUMAN		C:0	Transcript		probably_damaging(0.939)	.	ENSP00000457748		CCDS58049.1		C:0	1	
ANKRD44	0	LGGM	GRCh37	2	198051785	198051785	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	83	19	.	.	ENST00000409919.1:c.73C>T	p.Arg25Trp	p.R25W	ENST00000409919	NM_153697.2	25	Cgg/Tgg	0	1		UPI0001AE772B	0	getma.org/pdb.php?prot=ANR44_HUMAN&from=12&to=104&var=R25W	ENST00000282272		ENSG00000065413	25259		102	2.06		HGNC	p.R17W	rs755510483	ANKRD44		SNV				9.61E-05			ENST00000282272	protein_coding	getma.org/?cm=var&var=hg19,2,198051785,G,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,Superfamily_domains:SSF48403		R/W		A	medium	49/2958		getma.org/?cm=msa&ty=f&p=ANR44_HUMAN&rb=12&re=104&var=R25W	deleterious(0)	Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,missense_variant,p.Arg17Trp,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Arg25Trp,ENST00000409153,;ANKRD44,missense_variant,p.Arg25Trp,ENST00000409919,NM_153697.2;ANKRD44,5_prime_UTR_variant,,ENST00000328737,;ANKRD44,5_prime_UTR_variant,,ENST00000450567,;ANKRD44,5_prime_UTR_variant,,ENST00000539527,;ANKRD44,5_prime_UTR_variant,,ENST00000443014,;ANKRD44,missense_variant,p.Arg25Trp,ENST00000447713,;ANKRD44,non_coding_transcript_exon_variant,,ENST00000463879,;							MODERATE	49/2958	R25W				Transcript		probably_damaging(0.986)	.	ENSP00000282272	8.24E-06				1	
DCHS2	0	LGGM	GRCh37	4	155219234	155219234	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	42	19	.	.	ENST00000357232.4:c.4867G>A	p.Ala1623Thr	p.A1623T	ENST00000357232	NM_017639.3	1623	Gca/Aca	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=1584&to=1685&var=A1623T	ENST00000357232		ENSG00000197410	23111		61	1.125		HGNC	p.A1623T		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155219234,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/T		T	low	4867/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1584&re=1685&var=A1623T	tolerated(0.14)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Ala1623Thr,ENST00000357232,NM_017639.3;							MODERATE	4867/8751	A1623T	PCD23_HUMAN			Transcript		benign(0.016)	.	ENSP00000349768		CCDS3785.1			1	
COCH	0	LGGM	GRCh37	14	31354142	31354142	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	100	20	.	.	ENST00000396618.3:c.733+280G>A		*245*	ENST00000396618	NM_004086.2			0	1		UPI0000048EBB	0		ENST00000216361		ENSG00000100473	2180		120			HGNC	p.V61I		COCH		SNV			1				ENST00000382493	protein_coding							A		-/2397				G3V5G6_HUMAN,G3V4C4_HUMAN				COCH,missense_variant,p.Val61Ile,ENST00000382493,;COCH,missense_variant,p.Val94Ile,ENST00000468826,;COCH,intron_variant,,ENST00000460581,;COCH,intron_variant,,ENST00000396618,NM_004086.2;COCH,intron_variant,,ENST00000216361,NM_001135058.1;COCH,intron_variant,,ENST00000475087,;COCH,intron_variant,,ENST00000555881,;COCH,downstream_gene_variant,,ENST00000556908,;RP11-829H16.3,intron_variant,,ENST00000555108,;RP11-829H16.3,intron_variant,,ENST00000555421,;RP11-829H16.3,downstream_gene_variant,,ENST00000556786,;RP11-829H16.3,downstream_gene_variant,,ENST00000468444,;COCH,intron_variant,,ENST00000557065,;COCH,downstream_gene_variant,,ENST00000553833,;COCH,downstream_gene_variant,,ENST00000553772,;							MODIFIER	-/1653		COCH_HUMAN			Transcript			.	ENSP00000216361		CCDS9640.1			1	
BIRC6	0	LGGM	GRCh37	2	32754803	32754803	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	112	20	.	.	ENST00000421745.2:c.12006A>T	p.Ile4002=	p.I4002=	ENST00000421745	NM_016252.3	4002	atA/atT	0	1	1	UPI0001611442	0		ENST00000421745		ENSG00000115760	13516		132			HGNC	p.I4002I		BIRC6		SNV							ENST00000421745	protein_coding			hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93		I		T		12140/15703							YES	BIRC6,synonymous_variant,p.=,ENST00000421745,NM_016252.3;MIR558,upstream_gene_variant,,ENST00000384920,;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;							LOW	12006/14574		BIRC6_HUMAN			Transcript			.	ENSP00000393596		CCDS33175.2			1	
DNAJB9	0	LGGM	GRCh37	7	108212225	108212225	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	154	20	.	.	ENST00000249356.3:c.55G>C	p.Glu19Gln	p.E19Q	ENST00000249356	NM_012328.2	19	Gaa/Caa	0	1	1	UPI000000D769	0	NA	ENST00000249356		ENSG00000128590	6968		174	-0.11		HGNC	p.E19Q		DNAJB9		SNV							ENST00000249356	protein_coding	getma.org/?cm=var&var=hg19,7,108212225,G,C&fts=all		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24077,Gene3D:1.10.287.110		E/Q		C	neutral	601/2715		getma.org/?cm=msa&ty=f&p=DNJB9_HUMAN&rb=1&re=55&var=E19Q	tolerated(0.06)	Q6FIF1_HUMAN,O95037_HUMAN			YES	DNAJB9,missense_variant,p.Glu19Gln,ENST00000249356,NM_012328.2;THAP5,upstream_gene_variant,,ENST00000415914,NM_001130475.1;THAP5,upstream_gene_variant,,ENST00000313516,NM_182529.3;THAP5,upstream_gene_variant,,ENST00000438865,;DNAJB9,non_coding_transcript_exon_variant,,ENST00000465725,;THAP5,upstream_gene_variant,,ENST00000493722,;THAP5,upstream_gene_variant,,ENST00000412935,;PNPLA8,upstream_gene_variant,,ENST00000489738,;THAP5,upstream_gene_variant,,ENST00000468884,;THAP5,upstream_gene_variant,,ENST00000446771,;DNAJB9,non_coding_transcript_exon_variant,,ENST00000491582,;THAP5,upstream_gene_variant,,ENST00000484452,;							MODERATE	55/672	E19Q	DNJB9_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000249356		CCDS5752.1			1	
OR5L2	0	LGGM	GRCh37	11	55594835	55594835	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	107	21	.	.	ENST00000378397.1:c.141A>C	p.Ala47=	p.A47=	ENST00000378397	NM_001004739.1	47	gcA/gcC	0	1	1	UPI0000041C49	0		ENST00000378397		ENSG00000205030	8351		128			HGNC	p.A47A		OR5L2		SNV							ENST00000378397	protein_coding			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		C		141/936							YES	OR5L2,synonymous_variant,p.=,ENST00000378397,NM_001004739.1;							LOW	141/936		OR5L2_HUMAN			Transcript			.	ENSP00000367650		CCDS31511.1			1	
DTHD1	0	LGGM	GRCh37	4	36309929	36309929	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	68	21	.	.	ENST00000456874.2:c.1534C>G	p.Leu512Val	p.L512V	ENST00000456874	NM_001170700.2	512	Ctg/Gtg	0	1	1	UPI00006C079E	0	NA	ENST00000456874		ENSG00000197057	37261		89	2.175		HGNC	p.L512V		DTHD1		SNV							ENST00000456874	protein_coding	getma.org/?cm=var&var=hg19,4,36309929,C,G&fts=all		hmmpanther:PTHR24199:SF7,hmmpanther:PTHR24199		L/V		G	medium	1592/4335		getma.org/?cm=msa&ty=f&p=DTHD1_HUMAN&rb=360&re=559&var=L512V	deleterious(0.02)				YES	DTHD1,missense_variant,p.Leu512Val,ENST00000456874,NM_001170700.2;DTHD1,missense_variant,p.Leu347Val,ENST00000357504,NM_001136536.4;DTHD1,missense_variant,p.Leu552Val,ENST00000507598,;RP11-431M7.2,downstream_gene_variant,,ENST00000504344,;							MODERATE	1534/2346	L512V	DTHD1_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000401597		CCDS54754.1			1	
GOLGB1	0	LGGM	GRCh37	3	121415848	121415848	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	56	22	.	.	ENST00000393667.3:c.3522T>A	p.Leu1174=	p.L1174=	ENST00000393667	NM_001256486.1	1174	ctT/ctA	0	1		UPI000013F0A1	0		ENST00000340645		ENSG00000173230	4429		78			HGNC	p.L1174L		GOLGB1		SNV							ENST00000393667	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887		L		T		3633/11187				C9J8Q0_HUMAN				GOLGB1,synonymous_variant,p.=,ENST00000393667,NM_001256486.1;GOLGB1,synonymous_variant,p.=,ENST00000340645,NM_001256487.1,NM_004487.4,NM_001256488.1;GOLGB1,synonymous_variant,p.=,ENST00000494517,;GOLGB1,downstream_gene_variant,,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;							LOW	3507/9780		GOGB1_HUMAN			Transcript			.	ENSP00000341848		CCDS3004.1			1	
DDX5	0	LGGM	GRCh37	17	62499401	62499401	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	50	22	.	.	ENST00000225792.5:c.715C>A	p.Leu239Met	p.L239M	ENST00000225792	NM_004396.3	239	Ctg/Atg	0	1	1	UPI000003B456	0	getma.org/pdb.php?prot=DDX5_HUMAN&from=118&to=289&var=L239M	ENST00000225792		ENSG00000108654	2746		72	2.485		HGNC	p.L77M	rs368634731	DDX5		SNV	T:0						ENST00000577787	protein_coding	getma.org/?cm=var&var=hg19,17,62499401,G,T&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR24031:SF182,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540		L/M	T:0.0001	T	medium	1117/2554	1.50E-05	getma.org/?cm=msa&ty=f&p=DDX5_HUMAN&rb=118&re=289&var=L239M	deleterious(0.04)	J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN			YES	DDX5,missense_variant,p.Leu239Met,ENST00000225792,NM_004396.3;DDX5,missense_variant,p.Leu160Met,ENST00000450599,;DDX5,missense_variant,p.Leu239Met,ENST00000578804,;DDX5,missense_variant,p.Leu77Met,ENST00000577787,;DDX5,missense_variant,p.Leu25Met,ENST00000579996,;CEP95,upstream_gene_variant,,ENST00000556440,NM_138363.1;CEP95,upstream_gene_variant,,ENST00000553412,;DDX5,downstream_gene_variant,,ENST00000585111,;DDX5,downstream_gene_variant,,ENST00000577922,;CEP95,upstream_gene_variant,,ENST00000581056,;DDX5,downstream_gene_variant,,ENST00000584279,;DDX5,downstream_gene_variant,,ENST00000578190,;DDX5,downstream_gene_variant,,ENST00000581697,;DDX5,downstream_gene_variant,,ENST00000581806,;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,missense_variant,p.Ser91Tyr,ENST00000578400,;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,,ENST00000584549,;DDX5,non_coding_transcript_exon_variant,,ENST00000583894,;DDX5,non_coding_transcript_exon_variant,,ENST00000582326,;DDX5,non_coding_transcript_exon_variant,,ENST00000581551,;DDX5,non_coding_transcript_exon_variant,,ENST00000583201,;CEP95,upstream_gene_variant,,ENST00000553956,;DDX5,upstream_gene_variant,,ENST00000585317,;CEP95,upstream_gene_variant,,ENST00000579860,;DDX5,upstream_gene_variant,,ENST00000579461,;DDX5,downstream_gene_variant,,ENST00000585223,;DDX5,upstream_gene_variant,,ENST00000578758,;DDX5,downstream_gene_variant,,ENST00000583562,;							MODERATE	715/1845	L239M	DDX5_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000225792	8.24E-06	CCDS11659.1			1	
NALCN	0	LGGM	GRCh37	13	102029180	102029180	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	90	23	.	.	ENST00000251127.6:c.516-1G>T		p.X172_splice	ENST00000251127	NM_052867.2			0	1	1	UPI000004EBBD	0		ENST00000251127		ENSG00000102452	19082		113			HGNC	-		NALCN		SNV			1				ENST00000251127	protein_coding							A		-/6816				B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,splice_acceptor_variant,,ENST00000251127,NM_052867.2;NALCN,splice_acceptor_variant,,ENST00000376196,;NALCN,splice_acceptor_variant,,ENST00000376200,;NALCN,splice_acceptor_variant,,ENST00000470333,;NALCN,splice_acceptor_variant,,ENST00000497170,;							HIGH	516/5217		NALCN_HUMAN			Transcript			.	ENSP00000251127		CCDS9498.1			1	
GJA5	0	LGGM	GRCh37	1	147231046	147231046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	28	23	.	.	ENST00000271348.2:c.301C>T	p.Arg101Cys	p.R101C	ENST00000271348	NM_005266.6	101	Cgc/Tgc	0	1	1	UPI000013D8D2	0	getma.org/pdb.php?prot=CXA5_HUMAN&from=3&to=109&var=R101C	ENST00000271348		ENSG00000143140	4279		51	3.155		HGNC	p.R101C		GJA5		SNV			1				ENST00000430508	protein_coding	getma.org/?cm=var&var=hg19,1,147231046,G,A&fts=all		Gene3D:2zw3A00,Pfam_domain:PF00029,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF13		R/C		A	medium	463/3177		getma.org/?cm=msa&ty=f&p=CXA5_HUMAN&rb=3&re=109&var=R101C	deleterious(0)				YES	GJA5,missense_variant,p.Arg101Cys,ENST00000271348,NM_005266.6;GJA5,missense_variant,p.Arg101Cys,ENST00000369237,;GJA5,missense_variant,p.Arg101Cys,ENST00000430508,;RP11-433J22.2,downstream_gene_variant,,ENST00000428911,;							MODERATE	301/1077	R101C	CXA5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000271348		CCDS929.1			1	
SEL1L3	0	LGGM	GRCh37	4	25783935	25783935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	113	23	.	.	ENST00000399878.3:c.2386C>A	p.Pro796Thr	p.P796T	ENST00000399878	NM_015187.3	796	Cca/Aca	0	1	1	UPI00001D7736	0	NA	ENST00000399878		ENSG00000091490	29108		136	1.24		HGNC	p.P796T		SEL1L3		SNV							ENST00000399878	protein_coding	getma.org/?cm=var&var=hg19,4,25783935,G,T&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF08238,hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF58,SMART_domains:SM00671,Superfamily_domains:SSF81901		P/T		T	low	2509/4514		getma.org/?cm=msa&ty=f&p=SE1L3_HUMAN&rb=796&re=834&var=P796T	tolerated(0.14)	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN			YES	SEL1L3,missense_variant,p.Pro796Thr,ENST00000399878,NM_015187.3;SEL1L3,missense_variant,p.Pro761Thr,ENST00000264868,;SEL1L3,missense_variant,p.Pro643Thr,ENST00000502949,;SEL1L3,upstream_gene_variant,,ENST00000514321,;							MODERATE	2386/3399	P796T	SE1L3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000382767		CCDS47037.1			1	
ZSWIM8	0	LGGM	GRCh37	10	75554356	75554356	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	62	23	.	.	ENST00000398706.2:c.2867G>A	p.Gly956Glu	p.G956E	ENST00000398706	NM_015037.3	956	gGg/gAg	0	1		UPI0001593B39	0	NA	ENST00000605216		ENSG00000214655	23528		85	1.7		HGNC	p.G570E		ZSWIM8		SNV							ENST00000492395	protein_coding	getma.org/?cm=var&var=hg19,10,75554356,G,A&fts=all		hmmpanther:PTHR22619		G/E		A	low	3069/6004		getma.org/?cm=msa&ty=f&p=K0913_HUMAN&rb=634&re=1835&var=G951E	tolerated(0.21)					ZSWIM8,missense_variant,p.Gly956Glu,ENST00000604729,;ZSWIM8,missense_variant,p.Gly956Glu,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Gly951Glu,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Gly918Glu,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Gly951Glu,ENST00000604524,;ZSWIM8,missense_variant,p.Gly291Glu,ENST00000603187,;ZSWIM8,missense_variant,p.Gly226Glu,ENST00000412198,;ZSWIM8,missense_variant,p.Gly217Glu,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,,ENST00000603195,;ZSWIM8,upstream_gene_variant,,ENST00000604165,;ZSWIM8,upstream_gene_variant,,ENST00000487278,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,missense_variant,p.Gly949Glu,ENST00000433366,;ZSWIM8,missense_variant,p.Gly570Glu,ENST00000492395,;RP11-574K11.31,downstream_gene_variant,,ENST00000603027,;RP11-574K11.31,downstream_gene_variant,,ENST00000603706,;							MODERATE	2852/5514	G951E	ZSWM8_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000474748		CCDS60560.1			1	
NF1	0	LGGM	GRCh37	17	29661860	29661860	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	22	23	.	.	ENST00000358273.4:c.5817T>A	p.Ile1939=	p.I1939=	ENST00000358273	NM_001042492.2	1939	atT/atA	0	1	1	UPI000012FFAE	0		ENST00000358273		ENSG00000196712	7765		45			HGNC	p.I1584I		NF1		SNV			1				ENST00000456735	protein_coding			Superfamily_domains:SSF48371,hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		I		A		6200/12425				Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,upstream_gene_variant,,ENST00000444181,;NF1,upstream_gene_variant,,ENST00000417592,;NF1,non_coding_transcript_exon_variant,,ENST00000581113,;NF1,stop_lost,p.Ter82ArgextTer23,ENST00000479536,;NF1,3_prime_UTR_variant,,ENST00000579081,;NF1,downstream_gene_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000471572,;NF1,upstream_gene_variant,,ENST00000581790,;NF1,upstream_gene_variant,,ENST00000584328,;							LOW	5817/8520		NF1_HUMAN			Transcript			.	ENSP00000351015		CCDS42292.1			1	
OR8D2	0	LGGM	GRCh37	11	124189956	124189956	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	53	24	.	.	ENST00000357438.2:c.138C>T	p.Ile46=	p.I46=	ENST00000357438	NM_001002918.1	46	atC/atT	0	1	1	UPI0000041D8E	0		ENST00000357438		ENSG00000197263	8482		77			HGNC	p.I46I		OR8D2		SNV							ENST00000357438	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF278,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I		A		229/1051							YES	OR8D2,synonymous_variant,p.=,ENST00000357438,NM_001002918.1;OR8B7P,downstream_gene_variant,,ENST00000526868,;							LOW	138/936		OR8D2_HUMAN			Transcript			.	ENSP00000350022		CCDS31707.1			1	
ACOX3	0	LGGM	GRCh37	4	8394085	8394085	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	85	25	.	.	ENST00000356406.5:c.1275G>T	p.Ala425=	p.A425=	ENST00000356406	NM_003501.2	425	gcG/gcT	0	1	1	UPI000013EEE2	0		ENST00000356406		ENSG00000087008	121		110			HGNC	p.A425A		ACOX3		SNV							ENST00000356406	protein_coding			Gene3D:1.20.140.10,Pfam_domain:PF00441,PIRSF_domain:PIRSF000168,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF11,Superfamily_domains:SSF47203		A		A		1353/2860				D6RJ89_HUMAN			YES	ACOX3,synonymous_variant,p.=,ENST00000356406,NM_003501.2;ACOX3,synonymous_variant,p.=,ENST00000413009,NM_001101667.1;ACOX3,synonymous_variant,p.=,ENST00000503233,;RNA5SP152,upstream_gene_variant,,ENST00000365184,;ACOX3,non_coding_transcript_exon_variant,,ENST00000508302,;ACOX3,non_coding_transcript_exon_variant,,ENST00000510365,;							LOW	1275/2103		ACOX3_HUMAN			Transcript			.	ENSP00000348775		CCDS3401.1			1	
ADCY10	0	LGGM	GRCh37	1	167825510	167825510	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	121	27	.	.	ENST00000367851.4:c.2064G>C	p.Lys688Asn	p.K688N	ENST00000367851	NM_018417.4	688	aaG/aaC	0	1	1	UPI0000204D00	0	NA	ENST00000367851		ENSG00000143199	21285		148	2.08		HGNC	p.K688N		ADCY10		SNV			1				ENST00000367851	protein_coding	getma.org/?cm=var&var=hg19,1,167825510,C,G&fts=all		Gene3D:3.40.50.300,PIRSF_domain:PIRSF011131,hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF23		K/N		G	medium	2249/5051		getma.org/?cm=msa&ty=f&p=ADCYA_HUMAN&rb=621&re=820&var=K688N	tolerated(0.11)				YES	ADCY10,missense_variant,p.Lys596Asn,ENST00000367848,;ADCY10,missense_variant,p.Lys688Asn,ENST00000367851,NM_018417.4;ADCY10,missense_variant,p.Lys535Asn,ENST00000545172,NM_001167749.1;							MODERATE	2064/4833	K688N	ADCYA_HUMAN			Transcript		benign(0.098)	.	ENSP00000356825		CCDS1265.1			1	
KIF1B	0	LGGM	GRCh37	1	10402141	10402141	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	96	36	.	.	ENST00000263934.6:c.3409T>C	p.Tyr1137His	p.Y1137H	ENST00000263934	NM_015074.3	1137	Tac/Cac	0	1		UPI000003424C	0	NA	ENST00000377086		ENSG00000054523	16636		132	2.095		HGNC	p.Y1137H		KIF1B		SNV			1				ENST00000263934	protein_coding	getma.org/?cm=var&var=hg19,1,10402141,T,C&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328		Y/H		C	medium	3749/10669		getma.org/?cm=msa&ty=f&p=KIF1B_HUMAN&rb=1093&re=1265&var=Y1183H	deleterious(0)	B4DMF3_HUMAN				KIF1B,missense_variant,p.Tyr1183His,ENST00000377086,;KIF1B,missense_variant,p.Tyr1183His,ENST00000377081,;KIF1B,missense_variant,p.Tyr1137His,ENST00000263934,NM_015074.3;KIF1B,upstream_gene_variant,,ENST00000465635,;KIF1B,upstream_gene_variant,,ENST00000483340,;							MODERATE	3547/5451	Y1183H	KIF1B_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000366290					1	
EPHA6	0	LGGM	GRCh37	3	97167515	97167515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	121	38	.	.	ENST00000389672.5:c.1835G>A	p.Arg612Lys	p.R612K	ENST00000389672	NM_001080448.2	612	aGa/aAa	0	1	1	UPI000004BB12	0	getma.org/pdb.php?prot=EPHA6_HUMAN&from=441&to=526&var=R517K	ENST00000389672		ENSG00000080224	19296		159	1.83		HGNC	p.R612K		EPHA6		SNV							ENST00000389672	protein_coding	getma.org/?cm=var&var=hg19,3,97167515,G,A&fts=all		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		R/K		A	low	1873/3971		getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=441&re=526&var=R517K	deleterious(0.04)	H0Y8K5_HUMAN			YES	EPHA6,missense_variant,p.Arg612Lys,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,;							MODERATE	1835/3393	R517K				Transcript		possibly_damaging(0.679)	.	ENSP00000374323		CCDS46876.1			1	
AKAP5	0	LGGM	GRCh37	14	64936355	64936355	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	86	38	.	.	ENST00000394718.4:c.1243A>G	p.Met415Val	p.M415V	ENST00000394718	NM_004857.3	415	Atg/Gtg	0	1		UPI0000140927	0	NA	ENST00000320636		ENSG00000179841	375		124	0.895		HGNC	p.M415V	rs577844234,COSM147793	AKAP5		SNV						0,1	ENST00000320636	protein_coding	getma.org/?cm=var&var=hg19,14,64936355,A,G&fts=all	G:0	hmmpanther:PTHR15182,hmmpanther:PTHR15182:SF0		M/V		G	low	2531/2601		getma.org/?cm=msa&ty=f&p=AKAP5_HUMAN&rb=315&re=425&var=M415V	deleterious(0)		G:0	G:0.003		AKAP5,missense_variant,p.Met415Val,ENST00000394718,NM_004857.3;AKAP5,missense_variant,p.Met415Val,ENST00000320636,;ZBTB25,intron_variant,,ENST00000555220,;ZBTB25,intron_variant,,ENST00000555424,;	0.000231	G:0.0006			0,1		MODERATE	1243/1284	M415V	AKAP5_HUMAN		G:0	Transcript		probably_damaging(0.97)	.	ENSP00000315615	1.65E-05	CCDS9764.1		G:0	1	
THBS1	0	LGGM	GRCh37	15	39885656	39885656	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072511	H072511N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	87	39	.	.	ENST00000260356.5:c.3054G>A	p.Arg1018=	p.R1018=	ENST00000260356	NM_003246.2	1018	agG/agA	0	1	1	UPI00001FE219	0		ENST00000260356		ENSG00000137801	11785		126			HGNC	p.R1018R		THBS1		SNV							ENST00000260356	protein_coding			PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899		R		A		3219/7775				Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,synonymous_variant,p.=,ENST00000260356,NM_003246.2;CTD-2033D15.1,downstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000484734,;THBS1,downstream_gene_variant,,ENST00000478845,;THBS1,upstream_gene_variant,,ENST00000559746,;THBS1,downstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,downstream_gene_variant,,ENST00000466755,;THBS1,downstream_gene_variant,,ENST00000490247,;							LOW	3054/3513		TSP1_HUMAN			Transcript			.	ENSP00000260356		CCDS32194.1			1	
KRTAP19-5	0	LGGM	GRCh37	21	31874334	31874334	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072511	H072511N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	102	39	.	.	ENST00000334151.2:c.75T>C	p.Tyr25=	p.Y25=	ENST00000334151	NM_181611.1	25	taT/taC	0	1	1	UPI00001A9E50	0		ENST00000334151		ENSG00000186977	18940		141			HGNC	p.Y25Y		KRTAP19-5		SNV							ENST00000334151	protein_coding			Pfam_domain:PF11759,Low_complexity_(Seg):seg		Y		G		102/461							YES	KRTAP19-5,synonymous_variant,p.=,ENST00000334151,NM_181611.1;KRTAP19-4,upstream_gene_variant,,ENST00000334058,NM_181610.1;							LOW	75/219		KR195_HUMAN			Transcript			.	ENSP00000334985		CCDS13597.1			1	
ANP32E	0	LGGM	GRCh37	1	150193008	150193008	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	196	48	.	.	ENST00000314136.8:c.792G>C	p.Glu264Asp	p.E264D	ENST00000314136	NM_001136478.3	264	gaG/gaC	0	1	1	UPI0000071679	0	NA	ENST00000314136		ENSG00000143401	16673		244	-0.205		HGNC	p.E216D		ANP32E		SNV							ENST00000369119	protein_coding	getma.org/?cm=var&var=hg19,1,150193008,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11375:SF5,hmmpanther:PTHR11375		E/D		G	neutral	1162/3453		getma.org/?cm=msa&ty=f&p=AN32E_HUMAN&rb=228&re=266&var=E264D	tolerated(0.24)	Q53F20_HUMAN			YES	ANP32E,missense_variant,p.Glu264Asp,ENST00000314136,NM_001136478.3,NM_030920.4,NM_001280559.1;ANP32E,missense_variant,p.Glu216Asp,ENST00000369119,NM_001136479.2;ANP32E,missense_variant,p.Glu132Asp,ENST00000369116,;ANP32E,missense_variant,p.Glu223Asp,ENST00000436748,;ANP32E,missense_variant,p.Glu145Asp,ENST00000369114,;ANP32E,missense_variant,p.Glu132Asp,ENST00000369115,;ANP32E,missense_variant,p.Glu96Asp,ENST00000534437,;ANP32E,3_prime_UTR_variant,,ENST00000533654,NM_001280560.1;							MODERATE	792/807	E264D	AN32E_HUMAN			Transcript		unknown(0)	.	ENSP00000324074		CCDS946.1			1	
PPP2R2D	0	LGGM	GRCh37	10	133748048	133748048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072511	H072511N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	167	52	.	.	ENST00000455566.1:c.94C>A	p.Arg32Ser	p.R32S	ENST00000455566	NM_018461.3	32	Cgt/Agt	0	1	1	UPI000013EC98	0		ENST00000455566		ENSG00000175470	23732		219			HGNC	p.R32S		PPP2R2D		SNV							ENST00000455566	protein_coding			Gene3D:2.130.10.10,PIRSF_domain:PIRSF037309,hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF6,Superfamily_domains:SSF50978		R/S		A		94/5133			deleterious(0)	Q6IN90_HUMAN,B3KMA9_HUMAN			YES	PPP2R2D,missense_variant,p.Arg32Ser,ENST00000455566,NM_018461.3;PPP2R2D,missense_variant,p.Arg31Ser,ENST00000482010,;							MODERATE	94/1269		2ABD_HUMAN			Transcript		possibly_damaging(0.659)	.	ENSP00000399970					1	
PRDM5	0	LGGM	GRCh37	4	121774598	121774598	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072511	H072511N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072511N.bam, H072511T.bam	Illumina HiSeq	224	80	.	.	ENST00000264808.3:c.275A>T	p.Glu92Val	p.E92V	ENST00000264808	NM_018699.2	92	gAg/gTg	0	1	1	UPI000013D572	0	getma.org/pdb.php?prot=PRDM5_HUMAN&from=56&to=122&var=E92V	ENST00000264808		ENSG00000138738	9349		304	1.845		HGNC	p.E92V		PRDM5		SNV			1				ENST00000264808	protein_coding	getma.org/?cm=var&var=hg19,4,121774598,T,A&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR24409:SF17,hmmpanther:PTHR24409,Gene3D:2.170.270.10,SMART_domains:SM00317,PIRSF_domain:PIRSF037162,Superfamily_domains:SSF82199		E/V		A	low	516/5330		getma.org/?cm=msa&ty=f&p=PRDM5_HUMAN&rb=56&re=122&var=E92V	deleterious(0)				YES	PRDM5,missense_variant,p.Glu92Val,ENST00000264808,NM_018699.2;PRDM5,missense_variant,p.Glu92Val,ENST00000394435,;PRDM5,missense_variant,p.Glu92Val,ENST00000428209,;PRDM5,missense_variant,p.Glu92Val,ENST00000515109,;PRDM5,non_coding_transcript_exon_variant,,ENST00000505484,;PRDM5,non_coding_transcript_exon_variant,,ENST00000512845,;							MODERATE	275/1893	E92V	PRDM5_HUMAN			Transcript		possibly_damaging(0.556)	.	ENSP00000264808		CCDS3716.1			1	
TOPORS	0	LGGM	GRCh37	9	32550783	32550783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	12	3	.	.	ENST00000360538.2:c.187G>A	p.Ala63Thr	p.A63T	ENST00000360538	NM_005802.4	63	Gca/Aca	0	1	1	UPI000006F223	0	NA	ENST00000360538		ENSG00000197579	21653		15	0		HGNC	p.A63T		TOPORS		SNV			1				ENST00000360538	protein_coding	getma.org/?cm=var&var=hg19,9,32550783,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456		A/T		T	neutral	304/4098		getma.org/?cm=msa&ty=f&p=TOPRS_HUMAN&rb=47&re=98&var=A63T	tolerated_low_confidence(0.4)				YES	TOPORS,missense_variant,p.Ala63Thr,ENST00000360538,NM_005802.4;TOPORS,intron_variant,,ENST00000379858,NM_001195622.1;NDUFB6,downstream_gene_variant,,ENST00000379847,NM_002493.4;NDUFB6,downstream_gene_variant,,ENST00000350021,NM_182739.2;TOPORS-AS1,upstream_gene_variant,,ENST00000453396,;TOPORS-AS1,upstream_gene_variant,,ENST00000425533,;TOPORS-AS1,upstream_gene_variant,,ENST00000458036,;TOPORS-AS1,upstream_gene_variant,,ENST00000540066,;TOPORS-AS1,upstream_gene_variant,,ENST00000450093,;AL353671.3,upstream_gene_variant,,ENST00000366466,;AL353671.2,downstream_gene_variant,,ENST00000359975,;AL353671.1,upstream_gene_variant,,ENST00000366355,;							MODERATE	187/3138	A63T	TOPRS_HUMAN			Transcript		benign(0.027)	.	ENSP00000353735		CCDS6527.1			1	
XKR9	0	LGGM	GRCh37	8	71619167	71619167	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	29	3	.	.	ENST00000408926.3:c.273-1G>T		p.X91_splice	ENST00000408926	NM_001011720.1			0	1	1	UPI00004C7A9F	0		ENST00000408926		ENSG00000221947	20937		32			HGNC	-		XKR9		SNV							ENST00000408926	protein_coding							T		-/3174				E5RFF6_HUMAN			YES	XKR9,splice_acceptor_variant,,ENST00000408926,NM_001011720.1,NM_001287260.1,NM_001287259.1;XKR9,splice_acceptor_variant,,ENST00000520030,;XKR9,splice_acceptor_variant,,ENST00000520273,;XKR9,splice_acceptor_variant,,ENST00000520092,;							HIGH	273/1122		XKR9_HUMAN			Transcript			.	ENSP00000386141		CCDS34905.1			1	
LDHD	0	LGGM	GRCh37	16	75146612	75146612	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	16	3	.	.	ENST00000300051.4:c.1247-1G>T		p.X416_splice	ENST00000300051	NM_153486.3			0	1	1	UPI0000062302	0		ENST00000300051		ENSG00000166816	19708		19			HGNC	-		LDHD		SNV							ENST00000300051	protein_coding							A		-/2067							YES	LDHD,splice_acceptor_variant,,ENST00000300051,NM_153486.3;LDHD,splice_acceptor_variant,,ENST00000450168,NM_194436.2;ZNRF1,downstream_gene_variant,,ENST00000335325,NM_032268.4;ZNRF1,downstream_gene_variant,,ENST00000320619,;ZNRF1,downstream_gene_variant,,ENST00000567962,;ZNRF1,downstream_gene_variant,,ENST00000568351,;RP11-252E2.1,upstream_gene_variant,,ENST00000499110,;ZNRF1,downstream_gene_variant,,ENST00000564320,;ZNRF1,downstream_gene_variant,,ENST00000568844,;ZNRF1,downstream_gene_variant,,ENST00000566244,;ZNRF1,downstream_gene_variant,,ENST00000568494,;LDHD,downstream_gene_variant,,ENST00000568164,;LDHD,downstream_gene_variant,,ENST00000569876,;							HIGH	1247/1524		LDHD_HUMAN			Transcript			.	ENSP00000300051		CCDS10913.1			1	
LEF1	0	LGGM	GRCh37	4	109088792	109088792	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	30	3	.	.	ENST00000265165.1:c.132C>A	p.Pro44=	p.P44=	ENST00000265165	NM_016269.4	44	ccC/ccA	0	1	1	UPI0000052242	0		ENST00000265165		ENSG00000138795	6551		33			HGNC	p.P44P		LEF1		SNV							ENST00000438313	protein_coding			Gene3D:4.10.900.10,Pfam_domain:PF08347,hmmpanther:PTHR10373:SF11,hmmpanther:PTHR10373		P		T		787/3068				Q8IZI3_HUMAN,Q659G9_HUMAN			YES	LEF1,synonymous_variant,p.=,ENST00000379951,NM_001130714.2,NM_001130713.2;LEF1,synonymous_variant,p.=,ENST00000265165,NM_016269.4;LEF1,synonymous_variant,p.=,ENST00000438313,;LEF1,upstream_gene_variant,,ENST00000510624,NM_001166119.1;LEF1,upstream_gene_variant,,ENST00000515500,;LEF1,upstream_gene_variant,,ENST00000512172,;LEF1-AS1,non_coding_transcript_exon_variant,,ENST00000436413,;LEF1-AS1,upstream_gene_variant,,ENST00000512637,;LEF1-AS1,upstream_gene_variant,,ENST00000508266,;LEF1,upstream_gene_variant,,ENST00000510135,;LEF1,upstream_gene_variant,,ENST00000509428,;LEF1,upstream_gene_variant,,ENST00000504775,;LEF1,upstream_gene_variant,,ENST00000510717,;LEF1,upstream_gene_variant,,ENST00000505293,;LEF1,synonymous_variant,p.=,ENST00000506680,;LEF1,upstream_gene_variant,,ENST00000504950,;							LOW	132/1200		LEF1_HUMAN			Transcript			.	ENSP00000265165		CCDS3679.1			1	
REPIN1	0	LGGM	GRCh37	7	150069808	150069808	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	30	3	.	.	ENST00000489432.2:c.1649G>A	p.Gly550Asp	p.G550D	ENST00000489432	NM_001099695.1	550	gGc/gAc	0	1		UPI0000071834	0	getma.org/pdb.php?prot=REPI1_HUMAN&from=473&to=498&var=G493D	ENST00000397281		ENSG00000214022	17922		33	0.985		HGNC	p.G493D		REPIN1		SNV							ENST00000425389	protein_coding	getma.org/?cm=var&var=hg19,7,150069808,G,A&fts=all		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		G/D		A	low	1967/3292		getma.org/?cm=msa&ty=f&p=REPI1_HUMAN&rb=453&re=518&var=G493D	tolerated(0.06)	E7EVL6_HUMAN				REPIN1,missense_variant,p.Gly493Asp,ENST00000397281,NM_013400.3;REPIN1,missense_variant,p.Gly493Asp,ENST00000444957,NM_001099696.2;REPIN1,missense_variant,p.Gly493Asp,ENST00000425389,NM_014374.3;REPIN1,missense_variant,p.Gly493Asp,ENST00000540729,;REPIN1,missense_variant,p.Gly550Asp,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,;							MODERATE	1478/1704	G493D	REPI1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000380451		CCDS43677.1			1	
RELN	0	LGGM	GRCh37	7	103185575	103185575	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	36	3	.	.	ENST00000428762.1:c.6519C>A	p.Phe2173Leu	p.F2173L	ENST00000428762	NM_005045.3	2173	ttC/ttA	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=2172&to=2371&var=F2173L	ENST00000428762		ENSG00000189056	9957		39	2.125		HGNC	p.F2173L		RELN		SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103185575,G,T&fts=all		hmmpanther:PTHR11841		F/L		T	medium	6679/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=2172&re=2371&var=F2173L	deleterious(0.03)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Phe2173Leu,ENST00000424685,;RELN,missense_variant,p.Phe2173Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Phe2173Leu,ENST00000343529,NM_173054.2;							MODERATE	6519/10383	F2173L	RELN_HUMAN			Transcript		benign(0.152)	.	ENSP00000392423		CCDS47680.1			1	
PARK7	0	LGGM	GRCh37	1	8022902	8022902	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	42	3	.	.	ENST00000493678.1:c.57G>T	p.Thr19=	p.T19=	ENST00000493678		19	acG/acT	0	1		UPI0000072F6F	0		ENST00000338639		ENSG00000116288	16369		45			HGNC	p.T19T		PARK7		SNV			1				ENST00000377491	protein_coding			hmmpanther:PTHR11019:SF4,hmmpanther:PTHR11019,Gene3D:3.40.50.880,TIGRFAM_domain:TIGR01383,Superfamily_domains:SSF52317		T		T		211/949								PARK7,synonymous_variant,p.=,ENST00000493678,;PARK7,synonymous_variant,p.=,ENST00000377491,;PARK7,synonymous_variant,p.=,ENST00000338639,NM_001123377.1,NM_007262.4;PARK7,synonymous_variant,p.=,ENST00000377493,;PARK7,synonymous_variant,p.=,ENST00000377488,;PARK7,synonymous_variant,p.=,ENST00000493373,;PARK7,upstream_gene_variant,,ENST00000469225,;PARK7,non_coding_transcript_exon_variant,,ENST00000497113,;PARK7,non_coding_transcript_exon_variant,,ENST00000465354,;PARK7,non_coding_transcript_exon_variant,,ENST00000460192,;							LOW	57/570		PARK7_HUMAN			Transcript			.	ENSP00000340278		CCDS93.1			1	
TRIM61	0	LGGM	GRCh37	4	165891121	165891121	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	13	3	.	.	ENST00000329314.5:c.34G>T	p.Ala12Ser	p.A12S	ENST00000329314	NM_001012414.2	12	Gca/Tca	0	1	1	UPI00004CEC1B	0	getma.org/pdb.php?prot=TRI61_HUMAN&from=1&to=15&var=A12S	ENST00000329314		ENSG00000183439	24339		16	-0.62		HGNC	p.A12S		TRIM61		SNV							ENST00000329314	protein_coding	getma.org/?cm=var&var=hg19,4,165891121,C,A&fts=all		Gene3D:3.30.40.10,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF304,Superfamily_domains:SSF57850		A/S		A	neutral	647/1582		getma.org/?cm=msa&ty=f&p=TRI61_HUMAN&rb=1&re=45&var=A12S	deleterious(0.04)				YES	TRIM61,missense_variant,p.Ala12Ser,ENST00000329314,NM_001012414.2;RP11-366M4.11,non_coding_transcript_exon_variant,,ENST00000508856,;RP11-366M4.8,intron_variant,,ENST00000596751,;							MODERATE	34/630	A12S	TRI61_HUMAN			Transcript		benign(0.256)	.	ENSP00000332288		CCDS34093.1			1	
UBA7	0	LGGM	GRCh37	3	49848459	49848459	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	17	3	.	.	ENST00000333486.3:c.1188G>T	p.Pro396=	p.P396=	ENST00000333486	NM_003335.2	396	ccG/ccT	0	1	1	UPI000006E3F8	0		ENST00000333486		ENSG00000182179	12471		20			HGNC	p.P396P		UBA7		SNV							ENST00000333486	protein_coding			Gene3D:3.40.50.720,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Superfamily_domains:SSF69572,TIGRFAM_domain:TIGR01408		P		A		1347/3299							YES	UBA7,synonymous_variant,p.=,ENST00000333486,NM_003335.2;MIR5193,upstream_gene_variant,,ENST00000584510,;UBA7,downstream_gene_variant,,ENST00000494212,;UBA7,non_coding_transcript_exon_variant,,ENST00000460703,;UBA7,non_coding_transcript_exon_variant,,ENST00000460516,;UBA7,upstream_gene_variant,,ENST00000483751,;UBA7,downstream_gene_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000488536,;UBA7,upstream_gene_variant,,ENST00000478875,;UBA7,upstream_gene_variant,,ENST00000497908,;UBA7,upstream_gene_variant,,ENST00000473992,;UBA7,upstream_gene_variant,,ENST00000489826,;							LOW	1188/3039		UBA7_HUMAN			Transcript			.	ENSP00000333266		CCDS2805.1			1	
TRPM2	0	LGGM	GRCh37	21	45819200	45819200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	39	3	.	.	ENST00000397928.1:c.2084G>T	p.Arg695Leu	p.R695L	ENST00000397928	NM_003307.3	695	cGg/cTg	0	1		UPI0000169D60	0	NA	ENST00000300482		ENSG00000142185	12339		42	2.395		HGNC	p.R695L		TRPM2		SNV							ENST00000397932	protein_coding	getma.org/?cm=var&var=hg19,21,45819200,G,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2		R/L		T	medium	2297/5989		getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=601&re=800&var=R695L	deleterious(0)	C9JZQ8_HUMAN				TRPM2,missense_variant,p.Arg695Leu,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Arg695Leu,ENST00000300482,;TRPM2,missense_variant,p.Arg675Leu,ENST00000300481,;TRPM2,missense_variant,p.Arg695Leu,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;							MODERATE	2084/4512	R695L	TRPM2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000300482		CCDS13710.1			1	
ZNF541	0	LGGM	GRCh37	19	48052684	48052684	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	35	3	.	.	ENST00000314121.4:c.366G>T	p.Ser122=	p.S122=	ENST00000314121		122	tcG/tcT	0	1		UPI0000E5A21D	0		ENST00000391901		ENSG00000118156	25294		38			HGNC	p.S122S		ZNF541		SNV							ENST00000314121	protein_coding			hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23		S		A		366/4580								ZNF541,synonymous_variant,p.=,ENST00000314121,;ZNF541,synonymous_variant,p.=,ENST00000391901,NM_001277075.1;ZNF541,synonymous_variant,p.=,ENST00000448976,;ZNF541,upstream_gene_variant,,ENST00000595558,;ZNF541,upstream_gene_variant,,ENST00000263351,;							LOW	366/4041		ZN541_HUMAN			Transcript			.	ENSP00000375770		CCDS46133.2			1	
MYOM3	0	LGGM	GRCh37	1	24413295	24413295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	16	3	.	.	ENST00000374434.3:c.1637G>T	p.Trp546Leu	p.W546L	ENST00000374434	NM_152372.3	546	tGg/tTg	0	1	1	UPI0000203A5D	0	getma.org/pdb.php?prot=MYOM3_HUMAN&from=502&to=587&var=W546L	ENST00000374434		ENSG00000142661	26679		19	4.075		HGNC	p.W547L	rs572507514	MYOM3		SNV				0.000102			ENST00000330966	protein_coding	getma.org/?cm=var&var=hg19,1,24413295,C,A&fts=all	A:0.0008	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19900:SF35,hmmpanther:PTHR19900,PROSITE_profiles:PS50853		W/L		A	high	1800/5804		getma.org/?cm=msa&ty=f&p=MYOM3_HUMAN&rb=502&re=587&var=W546L	deleterious(0)		A:0	A:0	YES	MYOM3,missense_variant,p.Trp547Leu,ENST00000330966,;MYOM3,missense_variant,p.Trp546Leu,ENST00000374434,NM_152372.3;MYOM3,missense_variant,p.Trp546Leu,ENST00000329601,;RP11-293P20.4,downstream_gene_variant,,ENST00000429191,;RP11-293P20.2,downstream_gene_variant,,ENST00000439239,;MYOM3,non_coding_transcript_exon_variant,,ENST00000475306,;MYOM3,upstream_gene_variant,,ENST00000448831,;	0.000116	A:0.0002					MODERATE	1637/4314	W546L	MYOM3_HUMAN		A:0	Transcript		probably_damaging(1)	.	ENSP00000363557	1.65E-05	CCDS41281.1		A:0	1	
ZBTB46	0	LGGM	GRCh37	20	62421388	62421388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	21	3	.	.	ENST00000245663.4:c.723C>A	p.Ser241Arg	p.S241R	ENST00000245663	NM_025224.3	241	agC/agA	0	1	1	UPI0000206406	0	NA	ENST00000245663		ENSG00000130584	16094		24	1.735		HGNC	p.S241R		ZBTB46		SNV							ENST00000395104	protein_coding	getma.org/?cm=var&var=hg19,20,62421388,G,T&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118		S/R		T	low	874/5185		getma.org/?cm=msa&ty=f&p=ZBT46_HUMAN&rb=140&re=405&var=S241R	tolerated(0.08)				YES	ZBTB46,missense_variant,p.Ser241Arg,ENST00000245663,NM_025224.3;ZBTB46,missense_variant,p.Ser241Arg,ENST00000395104,;ZBTB46,missense_variant,p.Ser241Arg,ENST00000302995,;ZBTB46,upstream_gene_variant,,ENST00000480766,;							MODERATE	723/1770	S241R	ZBT46_HUMAN			Transcript		benign(0.011)	.	ENSP00000245663		CCDS13538.1			1	
MDGA2	0	LGGM	GRCh37	14	47426811	47426811	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	42	3	.	.	ENST00000426342.1:c.961C>A	p.Arg321=	p.R321=	ENST00000426342	NM_182830.4	321	Cgg/Agg	0	1		UPI00001C14FF	0		ENST00000399232		ENSG00000139915	19835		45			HGNC	p.R321R		MDGA2		SNV							ENST00000426342	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50835		R		T		2013/5075				F8WE89_HUMAN				MDGA2,synonymous_variant,p.=,ENST00000426342,NM_182830.4;MDGA2,synonymous_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,synonymous_variant,p.=,ENST00000439988,;MDGA2,synonymous_variant,p.=,ENST00000357362,;SNORA25,upstream_gene_variant,,ENST00000515926,;MDGA2,3_prime_UTR_variant,,ENST00000557238,;							LOW	1648/2871		MDGA2_HUMAN			Transcript			.	ENSP00000382178		CCDS45098.3			1	
CIAO1	0	LGGM	GRCh37	2	96935058	96935058	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	29	3	.	.	ENST00000488633.1:c.744C>A	p.Ser248=	p.S248=	ENST00000488633	NM_004804.2	248	tcC/tcA	0	1	1	UPI0000127987	0		ENST00000488633		ENSG00000144021	14280		32			HGNC	p.S248S		CIAO1		SNV							ENST00000488633	protein_coding			HAMAP:MF_03037,PROSITE_profiles:PS50294,hmmpanther:PTHR19920,hmmpanther:PTHR19920:SF0,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		S		A		963/1533							YES	CIAO1,synonymous_variant,p.=,ENST00000488633,NM_004804.2;TMEM127,upstream_gene_variant,,ENST00000258439,NM_001193304.2,NM_017849.3;TMEM127,upstream_gene_variant,,ENST00000432959,;CIAO1,downstream_gene_variant,,ENST00000469320,;CIAO1,non_coding_transcript_exon_variant,,ENST00000272402,;CIAO1,downstream_gene_variant,,ENST00000491394,;							LOW	744/1020		CIAO1_HUMAN			Transcript			.	ENSP00000418287		CCDS2019.1			1	
SHC3	0	LGGM	GRCh37	9	91690090	91690090	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	22	3	.	.	ENST00000375835.4:c.663G>T	p.Ala221=	p.A221=	ENST00000375835	NM_016848.5	221	gcG/gcT	0	1	1	UPI0000073E1F	0		ENST00000375835		ENSG00000148082	18181		25			HGNC	p.A221A		SHC3		SNV							ENST00000375835	protein_coding			PROSITE_profiles:PS01179,hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729,Prints_domain:PR00629		A		A		970/2394							YES	SHC3,synonymous_variant,p.=,ENST00000375835,NM_016848.5;SHC3,5_prime_UTR_variant,,ENST00000375830,;							LOW	663/1785		SHC3_HUMAN			Transcript			.	ENSP00000364995		CCDS6681.1			1	
SLC16A5	0	LGGM	GRCh37	17	73101988	73101988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	44	3	.	.	ENST00000450736.2:c.1378C>A	p.Arg460Ser	p.R460S	ENST00000450736		460	Cgc/Agc	0	1		UPI0000000DC7	0	NA	ENST00000329783		ENSG00000170190	10926		47	0		HGNC	p.R460S		SLC16A5		SNV							ENST00000580123	protein_coding	getma.org/?cm=var&var=hg19,17,73101988,C,A&fts=all				R/S		A	neutral	1665/1934		getma.org/?cm=msa&ty=f&p=MOT6_HUMAN&rb=236&re=488&var=R460S	tolerated(0.82)	J3QQW5_HUMAN,J3QL40_HUMAN,J3KT93_HUMAN				SLC16A5,missense_variant,p.Arg460Ser,ENST00000450736,;SLC16A5,missense_variant,p.Arg460Ser,ENST00000580123,NM_001271765.1;SLC16A5,missense_variant,p.Arg460Ser,ENST00000329783,NM_004695.3;ARMC7,upstream_gene_variant,,ENST00000245543,NM_024585.2;SLC16A5,downstream_gene_variant,,ENST00000538213,;SLC16A5,downstream_gene_variant,,ENST00000578376,;ARMC7,upstream_gene_variant,,ENST00000582136,;ARMC7,upstream_gene_variant,,ENST00000581078,;ARMC7,upstream_gene_variant,,ENST00000584947,;							MODERATE	1378/1518	R460S	MOT6_HUMAN			Transcript		benign(0)	.	ENSP00000330141		CCDS11713.1			1	
LRFN2	0	LGGM	GRCh37	6	40400829	40400829	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	15	3	.	.	ENST00000338305.6:c.24G>T	p.Leu8=	p.L8=	ENST00000338305	NM_020737.1	8	ctG/ctT	0	1	1	UPI00001C1E47	0		ENST00000338305		ENSG00000156564	21226		18			HGNC	p.L8L		LRFN2		SNV							ENST00000338305	protein_coding			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25		L		A		567/3270							YES	LRFN2,synonymous_variant,p.=,ENST00000338305,NM_020737.1;							LOW	24/2370		LRFN2_HUMAN			Transcript			.	ENSP00000345985		CCDS34443.1			1	
CLK2	0	LGGM	GRCh37	1	155234031	155234031	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	46	3	.	.	ENST00000361168.5:c.1204C>A	p.Arg402=	p.R402=	ENST00000361168		402	Cgg/Agg	0	1		UPI0000127AD2	0		ENST00000368361		ENSG00000176444	2069		49			HGNC	p.R403R		CLK2		SNV							ENST00000536801	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF26,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		R		T		1523/2166				Q9BRG8_HUMAN,B7Z8N6_HUMAN,A8K7I0_HUMAN				CLK2,synonymous_variant,p.=,ENST00000368361,;CLK2,synonymous_variant,p.=,ENST00000355560,NM_003993.2;CLK2,synonymous_variant,p.=,ENST00000361168,;CLK2,synonymous_variant,p.=,ENST00000536801,;SCAMP3,upstream_gene_variant,,ENST00000355379,NM_052837.2;SCAMP3,upstream_gene_variant,,ENST00000302631,NM_005698.3;CLK2,non_coding_transcript_exon_variant,,ENST00000497188,;CLK2,non_coding_transcript_exon_variant,,ENST00000476983,;SCAMP3,upstream_gene_variant,,ENST00000472397,;SCAMP3,upstream_gene_variant,,ENST00000490999,;SCAMP3,upstream_gene_variant,,ENST00000497470,;SCAMP3,upstream_gene_variant,,ENST00000462151,;SCAMP3,upstream_gene_variant,,ENST00000480219,;SCAMP3,upstream_gene_variant,,ENST00000465312,;CLK2,downstream_gene_variant,,ENST00000471047,;CLK2,downstream_gene_variant,,ENST00000484699,;							LOW	1207/1500		CLK2_HUMAN			Transcript			.	ENSP00000357345					1	
NBL1	0	LGGM	GRCh37	1	19981921	19981921	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	20	3	.	.	ENST00000289749.2:c.380G>T	p.Trp127Leu	p.W127L	ENST00000289749	NM_182744.3	127	tGg/tTg	0	1		UPI0000071C54	0	NA	ENST00000375136		ENSG00000158747	7650		23	1.93		HGNC	p.W92L		NBL1		SNV							ENST00000428975	protein_coding	getma.org/?cm=var&var=hg19,1,19981921,G,T&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF03045,PIRSF_domain:PIRSF018557,hmmpanther:PTHR15283,hmmpanther:PTHR15283:SF1,SMART_domains:SM00041		W/L		T	medium	578/2172		getma.org/?cm=msa&ty=f&p=NBL1_HUMAN&rb=8&re=125&var=W91L	deleterious(0)	R4GMY4_HUMAN,E5RFZ1_HUMAN,A3KFI5_HUMAN,A3KFI4_HUMAN,A3KFI3_HUMAN,A3KFI2_HUMAN				NBL1,missense_variant,p.Trp92Leu,ENST00000375136,NM_005380.7,NM_001278166.1,NM_001278164.1,NM_001204085.1;NBL1,missense_variant,p.Trp91Leu,ENST00000548815,NM_001204086.2,NM_001204084.2,NM_001204088.1,NM_001278166.1,NM_001278165.1,NM_001278164.1,NM_001204085.1;MINOS1-NBL1,missense_variant,p.Trp92Leu,ENST00000602662,NM_001204089.1;MINOS1-NBL1,missense_variant,p.Trp92Leu,ENST00000602293,;NBL1,missense_variant,p.Trp127Leu,ENST00000289749,NM_182744.3;NBL1,missense_variant,p.Trp92Leu,ENST00000451758,;NBL1,missense_variant,p.Trp92Leu,ENST00000439664,;NBL1,missense_variant,p.Trp91Leu,ENST00000427894,;NBL1,missense_variant,p.Trp126Leu,ENST00000439278,;NBL1,missense_variant,p.Trp92Leu,ENST00000428975,;NBL1,missense_variant,p.Trp92Leu,ENST00000425400,;MINOS1-NBL1,3_prime_UTR_variant,,ENST00000602384,;MINOS1-NBL1,3_prime_UTR_variant,,ENST00000602450,;							MODERATE	275/546	W91L	NBL1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000364278		CCDS196.2			1	
DLK1	0	LGGM	GRCh37	14	101201147	101201147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	34	3	.	.	ENST00000341267.4:c.1066G>T	p.Gly356Trp	p.G356W	ENST00000341267	NM_003836.5	356	Ggg/Tgg	0	1	1	UPI00001AFE16	0	NA	ENST00000341267		ENSG00000185559	2907		37	0.895		HGNC	p.G283W		DLK1		SNV			1				ENST00000331224	protein_coding	getma.org/?cm=var&var=hg19,14,101201147,G,T&fts=all		hmmpanther:PTHR24052:SF10,hmmpanther:PTHR24052		G/W		T	low	1308/1700		getma.org/?cm=msa&ty=f&p=DLK1_HUMAN&rb=307&re=381&var=G356W	deleterious(0)	G3XAH5_HUMAN			YES	DLK1,missense_variant,p.Gly356Trp,ENST00000341267,NM_003836.5;DLK1,missense_variant,p.Gly283Trp,ENST00000331224,;DLK1,downstream_gene_variant,,ENST00000392848,;RP11-566J3.4,upstream_gene_variant,,ENST00000608876,;							MODERATE	1066/1152	G356W	DLK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340292		CCDS9963.1			1	
CPSF7	0	LGGM	GRCh37	11	61188916	61188916	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	12	3	.	.	ENST00000340437.4:c.348C>A	p.Thr116=	p.T116=	ENST00000340437	NM_024811.3	116	acC/acA	0	1		UPI0000073C8F	0		ENST00000394888		ENSG00000149532	30098		15			HGNC	p.T73T		CPSF7		SNV							ENST00000539952	protein_coding			Gene3D:3.30.70.330,hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF2		T		T		392/3650				C9JM38_HUMAN,C9J323_HUMAN,C9J286_HUMAN				CPSF7,synonymous_variant,p.=,ENST00000340437,NM_024811.3;CPSF7,synonymous_variant,p.=,ENST00000394888,NM_001136040.2;CPSF7,synonymous_variant,p.=,ENST00000439958,NM_001142565.1;CPSF7,synonymous_variant,p.=,ENST00000448745,;CPSF7,synonymous_variant,p.=,ENST00000477890,;CPSF7,synonymous_variant,p.=,ENST00000539952,;CPSF7,synonymous_variant,p.=,ENST00000413232,;CPSF7,synonymous_variant,p.=,ENST00000544585,;CPSF7,synonymous_variant,p.=,ENST00000450000,;CPSF7,synonymous_variant,p.=,ENST00000413184,;CPSF7,synonymous_variant,p.=,ENST00000449811,;CPSF7,synonymous_variant,p.=,ENST00000541963,;CPSF7,non_coding_transcript_exon_variant,,ENST00000545934,;CPSF7,non_coding_transcript_exon_variant,,ENST00000463244,;CPSF7,synonymous_variant,p.=,ENST00000535222,;CPSF7,synonymous_variant,p.=,ENST00000537162,;CPSF7,synonymous_variant,p.=,ENST00000544990,;CPSF7,synonymous_variant,p.=,ENST00000536548,;CPSF7,synonymous_variant,p.=,ENST00000536145,;CPSF7,synonymous_variant,p.=,ENST00000543545,;CPSF7,non_coding_transcript_exon_variant,,ENST00000544669,;CPSF7,non_coding_transcript_exon_variant,,ENST00000474684,;CPSF7,non_coding_transcript_exon_variant,,ENST00000489728,;CPSF7,intron_variant,,ENST00000537641,;							LOW	219/1416		CPSF7_HUMAN			Transcript			.	ENSP00000378352		CCDS44619.1			1	
MYO9B	0	LGGM	GRCh37	19	17212740	17212740	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	10	3	.	.	ENST00000595618.1:c.213G>T	p.Ser71=	p.S71=	ENST00000595618	NM_001130065.1	71	tcG/tcT	0	1		UPI0002A47676	0		ENST00000594824		ENSG00000099331	7609		13			HGNC	p.S71S	rs373469531	MYO9B		SNV	T:0		1				ENST00000595618	protein_coding		T:0	Pfam_domain:PF00788,PROSITE_profiles:PS50200,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00314,Superfamily_domains:SSF54236		S	T:0.0005	T		360/7595	7.71E-05			M0R0P8_HUMAN	T:0	T:0		MYO9B,synonymous_variant,p.=,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,synonymous_variant,p.=,ENST00000594824,;MYO9B,synonymous_variant,p.=,ENST00000397274,;MYO9B,synonymous_variant,p.=,ENST00000595641,;CTD-2528A14.5,upstream_gene_variant,,ENST00000597045,;MYO9B,upstream_gene_variant,,ENST00000593411,;		T:0.0002					LOW	213/6474				T:0.001	Transcript			.	ENSP00000471367	4.13E-05			T:0	1	
NFIC	0	LGGM	GRCh37	19	3381789	3381789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	35	3	.	.	ENST00000443272.2:c.110G>T	p.Arg37Leu	p.R37L	ENST00000443272	NM_001245002.1	37	cGg/cTg	0	1	1	UPI000012FFC8	0	NA	ENST00000443272		ENSG00000141905	7786		38	1.5		HGNC	p.R37L		NFIC		SNV							ENST00000341919	protein_coding	getma.org/?cm=var&var=hg19,19,3381789,G,T&fts=all		PROSITE_profiles:PS51080,hmmpanther:PTHR11492,PROSITE_patterns:PS00349,Pfam_domain:PF10524		R/L		T	low	161/1716		getma.org/?cm=msa&ty=f&p=NFIC_HUMAN&rb=4&re=47&var=R37L	deleterious(0.03)				YES	NFIC,missense_variant,p.Arg28Leu,ENST00000589123,NM_205843.2,NM_001245005.1;NFIC,missense_variant,p.Arg28Leu,ENST00000346156,;NFIC,missense_variant,p.Arg28Leu,ENST00000395111,;NFIC,missense_variant,p.Arg37Leu,ENST00000443272,NM_001245002.1;NFIC,missense_variant,p.Arg37Leu,ENST00000341919,NM_005597.3;NFIC,missense_variant,p.Arg37Leu,ENST00000590282,NM_001245004.1;NFIC,missense_variant,p.Arg28Leu,ENST00000586919,;							MODERATE	110/1527	R37L	NFIC_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000396843		CCDS59330.1			1	
PITPNM1	0	LGGM	GRCh37	11	67267467	67267467	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	22	3	.	.	ENST00000356404.3:c.981C>A	p.Pro327=	p.P327=	ENST00000356404	NM_001130848.1	327	ccC/ccA	0	1	1	UPI00001FAD31	0		ENST00000356404		ENSG00000110697	9003		25			HGNC	p.P327P		PITPNM1		SNV							ENST00000534749	protein_coding			hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40		P		T		1207/4225				E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN			YES	PITPNM1,synonymous_variant,p.=,ENST00000356404,NM_001130848.1,NM_004910.2;PITPNM1,synonymous_variant,p.=,ENST00000436757,;PITPNM1,synonymous_variant,p.=,ENST00000534749,;PITPNM1,downstream_gene_variant,,ENST00000528559,;PITPNM1,downstream_gene_variant,,ENST00000533391,;PITPNM1,downstream_gene_variant,,ENST00000524901,;PITPNM1,downstream_gene_variant,,ENST00000532703,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000530381,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000525521,;PITPNM1,downstream_gene_variant,,ENST00000529203,;PITPNM1,upstream_gene_variant,,ENST00000526602,;PITPNM1,downstream_gene_variant,,ENST00000527527,;PITPNM1,upstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000527103,;PITPNM1,upstream_gene_variant,,ENST00000527370,;							LOW	981/3735		PITM1_HUMAN			Transcript			.	ENSP00000348772		CCDS31620.1			1	
MERTK	0	LGGM	GRCh37	2	112740535	112740535	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	41	3	.	.	ENST00000295408.4:c.1261C>A	p.Arg421=	p.R421=	ENST00000295408		421	Cgg/Agg	0	1	1	UPI000013E252	0		ENST00000295408		ENSG00000153208	7027		44			HGNC	p.R421R		MERTK		SNV			1				ENST00000421804	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		R		A		1518/3954				Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN			YES	MERTK,synonymous_variant,p.=,ENST00000295408,;MERTK,synonymous_variant,p.=,ENST00000421804,NM_006343.2;MERTK,synonymous_variant,p.=,ENST00000409780,;MERTK,3_prime_UTR_variant,,ENST00000439966,;							LOW	1261/3000		MERTK_HUMAN			Transcript			.	ENSP00000295408		CCDS2094.1			1	
IGKV1D-42	0	LGGM	GRCh37	2	90229429	90229429	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	40	3	.	.	ENST00000390278.2:c.249G>T	p.Arg83Ser	p.R83S	ENST00000390278		83	agG/agT	0	1	1	UPI0000116190	0		ENST00000390278		ENSG00000211633	5757		43			HGNC	p.R83S		IGKV1D-42		SNV							ENST00000390278	IG_V_gene			Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,PROSITE_profiles:PS50835		R/S		T		269/371			deleterious(0)	A2NXD2_HUMAN			YES	IGKV1D-42,missense_variant,p.Arg83Ser,ENST00000390278,;							MODERATE	249/351					Transcript		benign(0.428)	.	ENSP00000374813					1	
MACF1	0	LGGM	GRCh37	1	39907928	39907928	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	41	3	.	.	ENST00000545844.1:c.12707G>T	p.Arg4236Leu	p.R4236L	ENST00000545844		4236	cGa/cTa	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		44	1.1		HGNC	p.R6295L		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39907928,G,T&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/L		T	low	18668/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=4201&re=4400&var=R4236L		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Arg6295Leu,ENST00000564288,;MACF1,missense_variant,p.Arg6332Leu,ENST00000567887,;MACF1,missense_variant,p.Arg6194Leu,ENST00000372915,;MACF1,missense_variant,p.Arg4738Leu,ENST00000289893,;MACF1,missense_variant,p.Arg4236Leu,ENST00000545844,;MACF1,missense_variant,p.Arg4236Leu,ENST00000317713,;MACF1,missense_variant,p.Arg4236Leu,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Arg4106Leu,ENST00000539005,;MACF1,missense_variant,p.Arg3240Leu,ENST00000372925,;MACF1,non_coding_transcript_exon_variant,,ENST00000469490,;							MODERATE	18581/22167	R4236L	MACF1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000362006					1	
BCAN	0	LGGM	GRCh37	1	156616877	156616877	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	6	3	.	.	ENST00000329117.5:c.376G>T	p.Glu126Ter	p.E126*	ENST00000329117	NM_021948.4	126	Gag/Tag	0	1	1	UPI000006F0E9	0	NA	ENST00000329117		ENSG00000132692	23059		9	0		HGNC	p.E126X		BCAN		SNV							ENST00000441358	protein_coding	getma.org/?cm=var&var=hg19,1,156616877,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR22804,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/*		T	NA	712/3466		NA		Q9NT67_HUMAN,Q5T3I8_HUMAN,Q5T3I7_HUMAN,Q59F90_HUMAN			YES	BCAN,stop_gained,p.Glu126Ter,ENST00000329117,NM_021948.4;BCAN,stop_gained,p.Glu126Ter,ENST00000361588,NM_198427.1;BCAN,stop_gained,p.Glu126Ter,ENST00000457777,;BCAN,stop_gained,p.Glu126Ter,ENST00000441358,;BCAN,intron_variant,,ENST00000424639,;RP11-284F21.7,non_coding_transcript_exon_variant,,ENST00000448869,;RP11-284F21.10,upstream_gene_variant,,ENST00000605886,;BCAN,stop_gained,p.Glu126Ter,ENST00000479949,;BCAN,upstream_gene_variant,,ENST00000491823,;							HIGH	376/2736	E126*	PGCB_HUMAN			Transcript			.	ENSP00000331210		CCDS1149.1			1	
ERGIC1	0	LGGM	GRCh37	5	172341789	172341789	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	34	3	.	.	ENST00000393784.3:c.323C>A	p.Pro108Gln	p.P108Q	ENST00000393784	NM_001031711.2	108	cCg/cAg	0	1	1	UPI0000072178	0	NA	ENST00000393784		ENSG00000113719	29205		37	1.89		HGNC	p.P108Q		ERGIC1		SNV							ENST00000520326	protein_coding	getma.org/?cm=var&var=hg19,5,172341789,C,A&fts=all		hmmpanther:PTHR10984,Pfam_domain:PF07970		P/Q		A	low	462/2881		getma.org/?cm=msa&ty=f&p=ERGI1_HUMAN&rb=97&re=271&var=P108Q	tolerated(0.09)				YES	ERGIC1,missense_variant,p.Pro63Gln,ENST00000326654,;ERGIC1,missense_variant,p.Pro108Gln,ENST00000393784,NM_001031711.2;ERGIC1,missense_variant,p.Pro108Gln,ENST00000520326,;ERGIC1,missense_variant,p.Pro108Gln,ENST00000523291,;ERGIC1,missense_variant,p.Pro63Gln,ENST00000518247,;ERGIC1,missense_variant,p.Pro97Gln,ENST00000519567,;ERGIC1,3_prime_UTR_variant,,ENST00000519796,;ERGIC1,3_prime_UTR_variant,,ENST00000520642,;							MODERATE	323/873	P108Q	ERGI1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000377374		CCDS34292.1			1	
SCN8A	0	LGGM	GRCh37	12	52201104	52201104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	33	3	.	.	ENST00000354534.6:c.5834C>A	p.Pro1945Gln	p.P1945Q	ENST00000354534	NM_014191.3	1945	cCg/cAg	0	1	1	UPI000006FD85	0	NA	ENST00000354534		ENSG00000196876	10596		36	1.975		HGNC	p.P1904Q		SCN8A		SNV			1				ENST00000545061	protein_coding	getma.org/?cm=var&var=hg19,12,52201104,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132		P/Q		A	medium	6012/11556		getma.org/?cm=msa&ty=f&p=SCN8A_HUMAN&rb=1917&re=1980&var=P1945Q	deleterious(0.01)	Q9P2Q6_HUMAN,Q8WWN3_HUMAN			YES	SCN8A,missense_variant,p.Pro1945Gln,ENST00000354534,NM_014191.3,NM_001177984.2;SCN8A,missense_variant,p.Pro1904Gln,ENST00000545061,;SCN8A,3_prime_UTR_variant,,ENST00000355133,;AC068987.1,upstream_gene_variant,,ENST00000599343,;RP11-923I11.3,downstream_gene_variant,,ENST00000565518,;							MODERATE	5834/5943	P1945Q	SCN8A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346534		CCDS44891.1			1	
UMODL1	0	LGGM	GRCh37	21	43519137	43519137	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	42	3	.	.	ENST00000408989.2:c.1033C>A	p.Arg345=	p.R345=	ENST00000408989	NM_173568.3	345	Cgg/Agg	0	1		UPI00006C2192	0		ENST00000408910		ENSG00000177398	12560		45			HGNC	p.R345R		UMODL1		SNV							ENST00000408989	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,SMART_domains:SM00060,Superfamily_domains:SSF49265		R		A		1033/4878				Q6L9N9_HUMAN				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;C21orf128,downstream_gene_variant,,ENST00000329015,;UMODL1,synonymous_variant,p.=,ENST00000400421,;UMODL1,3_prime_UTR_variant,,ENST00000491559,;UMODL1,3_prime_UTR_variant,,ENST00000466434,;UMODL1,3_prime_UTR_variant,,ENST00000468982,;UMODL1,3_prime_UTR_variant,,ENST00000485357,;UMODL1,3_prime_UTR_variant,,ENST00000497243,;							LOW	1033/3957		UROL1_HUMAN			Transcript			.	ENSP00000386147		CCDS42936.1			1	
IFI27L2	0	LGGM	GRCh37	14	94594873	94594873	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	16	3	.	.	ENST00000238609.3:c.177G>T	p.Leu59=	p.L59=	ENST00000238609	NM_032036.2	59	ctG/ctT	0	1	1	UPI0000049526	0		ENST00000238609		ENSG00000119632	19753		19			HGNC	p.L34L		IFI27L2		SNV							ENST00000556727	protein_coding			Pfam_domain:PF06140,hmmpanther:PTHR16932,hmmpanther:PTHR16932:SF2		L		A		277/511							YES	IFI27L2,synonymous_variant,p.=,ENST00000556727,;IFI27L2,synonymous_variant,p.=,ENST00000238609,NM_032036.2;IFI27L2,non_coding_transcript_exon_variant,,ENST00000556552,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000554909,;IFI27L2,non_coding_transcript_exon_variant,,ENST00000555558,;IFI27L2,intron_variant,,ENST00000553601,;							LOW	177/393		I27L2_HUMAN			Transcript			.	ENSP00000238609		CCDS9920.1			1	
GSG2	0	LGGM	GRCh37	17	3628750	3628750	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	24	3	.	.	ENST00000325418.4:c.1521C>A	p.Pro507=	p.P507=	ENST00000325418	NM_031965.2	507	ccC/ccA	0	1	1	UPI0000141654	0		ENST00000325418		ENSG00000177602	19682		27			HGNC	p.P507P		GSG2		SNV							ENST00000325418	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF20,SMART_domains:SM00220,Superfamily_domains:SSF56112		P		A		1540/2857							YES	GSG2,synonymous_variant,p.=,ENST00000325418,NM_031965.2;ITGAE,intron_variant,,ENST00000263087,NM_002208.4;ITGAE,downstream_gene_variant,,ENST00000574026,;CTD-3195I5.4,upstream_gene_variant,,ENST00000575043,;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,;ITGAE,intron_variant,,ENST00000571185,;ITGAE,upstream_gene_variant,,ENST00000570360,;ITGAE,upstream_gene_variant,,ENST00000572179,;ITGAE,intron_variant,,ENST00000570415,;ITGAE,upstream_gene_variant,,ENST00000572433,;							LOW	1521/2397		HASP_HUMAN			Transcript			.	ENSP00000325290		CCDS11036.1			1	
PTAFR	0	LGGM	GRCh37	1	28477327	28477327	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	19	3	.	.	ENST00000373857.3:c.206C>T	p.Thr69Ile	p.T69I	ENST00000373857	NM_000952.4	69	aCc/aTc	0	1		UPI0000000DD3	0	getma.org/pdb.php?prot=PTAFR_HUMAN&from=32&to=293&var=T69I	ENST00000305392		ENSG00000169403	9582		22	2.325		HGNC	p.T69I		PTAFR		SNV							ENST00000373857	protein_coding	getma.org/?cm=var&var=hg19,1,28477327,G,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24233:SF6,hmmpanther:PTHR24233,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		T/I		A	medium	396/1539		getma.org/?cm=msa&ty=f&p=PTAFR_HUMAN&rb=32&re=293&var=T69I	tolerated(0.07)					PTAFR,missense_variant,p.Thr69Ile,ENST00000373857,NM_000952.4,NM_001164723.2,NM_001164722.2;PTAFR,missense_variant,p.Thr69Ile,ENST00000539896,NM_001164721.1,NM_001164723.2,NM_001164722.2;PTAFR,missense_variant,p.Thr69Ile,ENST00000305392,;							MODERATE	206/1029	T69I	PTAFR_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000301974		CCDS318.1			1	
TCP10	0	LGGM	GRCh37	6	167787892	167787892	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	42	3	.	.	ENST00000397829.4:c.736C>A	p.Arg246Ser	p.R246S	ENST00000397829	NM_004610.3	246	Cgc/Agc	0	1	1	UPI0000D820CE	0	NA	ENST00000397829		ENSG00000203690	11656		45	0		HGNC	p.R246S		TCP10		SNV							ENST00000397829	protein_coding	getma.org/?cm=var&var=hg19,6,167787892,G,T&fts=all		hmmpanther:PTHR10331		R/S		T	neutral	904/2141		getma.org/?cm=msa&ty=f&p=D1MPS5_HUMAN&rb=244&re=324&var=R246S	tolerated(0.18)	D1MPS5_HUMAN			YES	TCP10,missense_variant,p.Arg246Ser,ENST00000366827,;TCP10,missense_variant,p.Arg246Ser,ENST00000397829,NM_004610.3;TCP10,3_prime_UTR_variant,,ENST00000460930,;TCP10,non_coding_transcript_exon_variant,,ENST00000508373,;TCP10,non_coding_transcript_exon_variant,,ENST00000463894,;TCP10,non_coding_transcript_exon_variant,,ENST00000514083,;TCP10,downstream_gene_variant,,ENST00000491085,;							MODERATE	736/981	R246S				Transcript		benign(0.018)	.	ENSP00000380929		CCDS43527.1			1	
MN1	0	LGGM	GRCh37	22	28193974	28193974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	19	3	.	.	ENST00000302326.4:c.2558C>A	p.Pro853Gln	p.P853Q	ENST00000302326	NM_002430.2	853	cCg/cAg	0	1	1	UPI0000207445	0	NA	ENST00000302326		ENSG00000169184	7180		22	-0.895		HGNC	p.P853Q		MN1		SNV			1				ENST00000302326	protein_coding	getma.org/?cm=var&var=hg19,22,28193974,G,T&fts=all		hmmpanther:PTHR15821		P/Q		T	neutral	3513/7556		getma.org/?cm=msa&ty=f&p=MN1_HUMAN&rb=1&re=1318&var=P853Q		A5HML1_HUMAN			YES	MN1,missense_variant,p.Pro853Gln,ENST00000302326,NM_002430.2;MN1,upstream_gene_variant,,ENST00000424656,;							MODERATE	2558/3963	P853Q	MN1_HUMAN			Transcript		benign(0.012)	.	ENSP00000304956		CCDS42998.1			1	
NUP93	0	LGGM	GRCh37	16	56871588	56871588	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	30	3	.	.	ENST00000308159.5:c.1968G>T	p.Pro656=	p.P656=	ENST00000308159	NM_014669.4	656	ccG/ccT	0	1	1	UPI0000044E0C	0		ENST00000308159		ENSG00000102900	28958		33			HGNC	p.P533P	rs181881269	NUP93		SNV	A:0						ENST00000564887	protein_coding		A:0	Pfam_domain:PF04097,hmmpanther:PTHR11225		P	A:0.0001	T		2089/2741	3.01E-05			H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN	A:0	A:0	YES	NUP93,synonymous_variant,p.=,ENST00000564887,NM_001242795.1;NUP93,synonymous_variant,p.=,ENST00000542526,NM_001242796.1;NUP93,synonymous_variant,p.=,ENST00000569842,;NUP93,synonymous_variant,p.=,ENST00000308159,NM_014669.4;NUP93,synonymous_variant,p.=,ENST00000563486,;NUP93,synonymous_variant,p.=,ENST00000563405,;NUP93,upstream_gene_variant,,ENST00000569322,;NUP93,downstream_gene_variant,,ENST00000563437,;NUP93,upstream_gene_variant,,ENST00000564278,;NUP93,upstream_gene_variant,,ENST00000563465,;		A:0.0002					LOW	1968/2460		NUP93_HUMAN		A:0.001	Transcript			.	ENSP00000310668	1.65E-05	CCDS10769.1		A:0	1	
CPT1C	0	LGGM	GRCh37	19	50210815	50210815	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	15	3	.	.	ENST00000392518.4:c.1384G>T	p.Gly462Trp	p.G462W	ENST00000392518	NM_001199752.1	462	Ggg/Tgg	0	1		UPI0000071C78	0	getma.org/pdb.php?prot=CPT1C_HUMAN&from=170&to=760&var=G462W	ENST00000323446		ENSG00000169169	18540		18	3.405		HGNC	p.G462W		CPT1C		SNV							ENST00000392518	protein_coding	getma.org/?cm=var&var=hg19,19,50210815,G,T&fts=all		hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55,PROSITE_patterns:PS00440,Pfam_domain:PF00755,Superfamily_domains:SSF52777		G/W		T	medium	1629/2783		getma.org/?cm=msa&ty=f&p=CPT1C_HUMAN&rb=170&re=760&var=G462W	deleterious(0)	M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN				CPT1C,missense_variant,p.Gly462Trp,ENST00000392518,NM_001199752.1;CPT1C,missense_variant,p.Gly451Trp,ENST00000405931,NM_001136052.2;CPT1C,missense_variant,p.Gly462Trp,ENST00000323446,NM_152359.2;CPT1C,missense_variant,p.Gly462Trp,ENST00000598293,NM_001199753.1;CPT1C,missense_variant,p.Gly462Trp,ENST00000354199,;CPT1C,missense_variant,p.Gly84Trp,ENST00000595031,;CPT1C,downstream_gene_variant,,ENST00000598396,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;CPT1C,non_coding_transcript_exon_variant,,ENST00000596701,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599023,;CPT1C,non_coding_transcript_exon_variant,,ENST00000295404,;CPT1C,downstream_gene_variant,,ENST00000595568,;CPT1C,upstream_gene_variant,,ENST00000595901,;CPT1C,upstream_gene_variant,,ENST00000599937,;CPT1C,downstream_gene_variant,,ENST00000594431,;							MODERATE	1384/2412	G462W	CPT1C_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000319343		CCDS12779.1			1	
TEKT3	0	LGGM	GRCh37	17	15207393	15207393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	10	3	.	.	ENST00000395930.1:c.1333C>A	p.Leu445Met	p.L445M	ENST00000395930	NM_031898.2	445	Ctg/Atg	0	1		UPI0000136BAB	0	NA	ENST00000338696		ENSG00000125409	14293		13	3.02		HGNC	p.L445M		TEKT3		SNV							ENST00000395930	protein_coding	getma.org/?cm=var&var=hg19,17,15207393,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF24,Pfam_domain:PF03148		L/M		T	medium	1432/1694		getma.org/?cm=msa&ty=f&p=TEKT3_HUMAN&rb=99&re=482&var=L445M	deleterious(0.02)	F5H5M8_HUMAN,F5H4K1_HUMAN,F5H115_HUMAN,F5GZV8_HUMAN				TEKT3,missense_variant,p.Leu445Met,ENST00000395930,NM_031898.2;TEKT3,missense_variant,p.Leu445Met,ENST00000338696,;TEKT3,non_coding_transcript_exon_variant,,ENST00000462175,;TEKT3,3_prime_UTR_variant,,ENST00000395931,;TEKT3,non_coding_transcript_exon_variant,,ENST00000578011,;							MODERATE	1333/1473	L445M	TEKT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343995		CCDS11169.1			1	
PSTPIP1	0	LGGM	GRCh37	15	77328165	77328165	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	12	3	.	.	ENST00000558012.1:c.1008C>A	p.Pro336=	p.P336=	ENST00000558012	NM_003978.3	336	ccC/ccA	0	1	1	UPI00000703D7	0		ENST00000558012		ENSG00000140368	9580		15			HGNC	p.H413N	rs377721832	PSTPIP1		SNV	A:0		1				ENST00000559785	protein_coding			hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF3,Low_complexity_(Seg):seg		P	A:0.0001	A		1497/1896	1.59E-05						YES	PSTPIP1,synonymous_variant,p.=,ENST00000558012,NM_003978.3;PSTPIP1,synonymous_variant,p.=,ENST00000379595,;PSTPIP1,synonymous_variant,p.=,ENST00000267939,;PSTPIP1,synonymous_variant,p.=,ENST00000559295,;PSTPIP1,synonymous_variant,p.=,ENST00000558870,;PSTPIP1,downstream_gene_variant,,ENST00000559856,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000557995,;PSTPIP1,missense_variant,p.His413Asn,ENST00000559785,;PSTPIP1,3_prime_UTR_variant,,ENST00000560223,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560064,;PSTPIP1,downstream_gene_variant,,ENST00000559750,;PSTPIP1,downstream_gene_variant,,ENST00000560377,;PSTPIP1,downstream_gene_variant,,ENST00000561315,;							LOW	1008/1251		PPIP1_HUMAN			Transcript			.	ENSP00000452746	8.34E-06	CCDS45312.1			1	
ESPL1	0	LGGM	GRCh37	12	53680609	53680609	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	16	3	.	.	ENST00000257934.4:c.4089G>A	p.Thr1363=	p.T1363=	ENST00000257934	NM_012291.4	1363	acG/acA	0	1	1	UPI00003668C3	0		ENST00000257934		ENSG00000135476	16856		19			HGNC	p.T1363T	rs577873912	ESPL1		SNV							ENST00000552462	protein_coding		A:0	hmmpanther:PTHR12792		T		A		4180/6623	1.51E-05			H3BRX7_HUMAN	A:0	A:0.001	YES	ESPL1,synonymous_variant,p.=,ENST00000257934,NM_012291.4;ESPL1,synonymous_variant,p.=,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,intron_variant,,ENST00000553016,;ESPL1,intron_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000549154,;ESPL1,upstream_gene_variant,,ENST00000552600,;		A:0.0002					LOW	4089/6363		ESPL1_HUMAN		A:0	Transcript			.	ENSP00000257934	8.24E-06	CCDS8852.1		A:0	1	
ZNF682	0	LGGM	GRCh37	19	20117303	20117303	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	39	3	.	.	ENST00000397165.2:c.1008G>T	p.Thr336=	p.T336=	ENST00000397165	NM_033196.2	336	acG/acT	0	1	1	UPI000007275A	0		ENST00000397165		ENSG00000197124	28857		42			HGNC	p.T304T		ZNF682		SNV							ENST00000358523	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,Superfamily_domains:SSF57667		T		A		1169/3245				M0R067_HUMAN			YES	ZNF682,synonymous_variant,p.=,ENST00000397165,NM_033196.2;ZNF682,synonymous_variant,p.=,ENST00000397162,NM_001077349.1;ZNF682,synonymous_variant,p.=,ENST00000358523,;ZNF682,synonymous_variant,p.=,ENST00000595736,;ZNF682,synonymous_variant,p.=,ENST00000597972,;ZNF682,intron_variant,,ENST00000596019,;ZNF682,intron_variant,,ENST00000602079,;ZNF682,intron_variant,,ENST00000594127,;ZNF682,downstream_gene_variant,,ENST00000601100,;ZNF682,downstream_gene_variant,,ENST00000593468,;ZNF682,non_coding_transcript_exon_variant,,ENST00000601365,;ZNF682,downstream_gene_variant,,ENST00000595534,;							LOW	1008/1497		ZN682_HUMAN			Transcript			.	ENSP00000380351		CCDS42533.1			1	
SLC13A3	0	LGGM	GRCh37	20	45212252	45212252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	17	3	.	.	ENST00000279027.4:c.1178C>A	p.Pro393Gln	p.P393Q	ENST00000279027	NM_001193342.1	393	cCg/cAg	0	1	1	UPI000013542F	0	NA	ENST00000279027		ENSG00000158296	14430		20	3.875		HGNC	p.P311Q		SLC13A3		SNV							ENST00000396360	protein_coding	getma.org/?cm=var&var=hg19,20,45212252,G,T&fts=all		hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939		P/Q		T	high	1197/4017		getma.org/?cm=msa&ty=f&p=S13A3_HUMAN&rb=9&re=573&var=P393Q	deleterious(0.01)	F6WI18_HUMAN,C9J7L4_HUMAN			YES	SLC13A3,missense_variant,p.Pro393Gln,ENST00000279027,NM_001193342.1,NM_022829.5;SLC13A3,missense_variant,p.Pro346Gln,ENST00000290317,NM_001011554.2;SLC13A3,missense_variant,p.Pro311Gln,ENST00000396360,;SLC13A3,missense_variant,p.Arg16Ser,ENST00000435032,;SLC13A3,missense_variant,p.Pro311Gln,ENST00000472148,NM_001193340.1;SLC13A3,missense_variant,p.Pro343Gln,ENST00000413164,NM_001193339.1;SLC13A3,missense_variant,p.Pro346Gln,ENST00000495082,;SLC13A3,missense_variant,p.Pro346Gln,ENST00000468915,;SLC13A3,missense_variant,p.Pro223Gln,ENST00000450298,;SLC13A3,downstream_gene_variant,,ENST00000420568,;SLC13A3,downstream_gene_variant,,ENST00000372121,;SLC13A3,non_coding_transcript_exon_variant,,ENST00000464518,;							MODERATE	1178/1809	P393Q	S13A3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000279027		CCDS13400.1			1	
ELMSAN1	0	LGGM	GRCh37	14	74203745	74203745	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	17	3	.	.	ENST00000286523.5:c.1705C>A	p.Arg569Ser	p.R569S	ENST00000286523	NM_194278.3	569	Cgc/Agc	0	1	1	UPI00001FD815	0	NA	ENST00000286523		ENSG00000156030	19853		20	1.04		HGNC	p.R569S		ELMSAN1		SNV							ENST00000286523	protein_coding	getma.org/?cm=var&var=hg19,14,74203745,G,T&fts=all		hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089		R/S		T	low	2488/8091		getma.org/?cm=msa&ty=f&p=CN043_HUMAN&rb=401&re=600&var=R569S	deleterious(0.03)	F6RU81_HUMAN,C9JYU7_HUMAN			YES	ELMSAN1,missense_variant,p.Arg569Ser,ENST00000286523,NM_194278.3;ELMSAN1,missense_variant,p.Arg569Ser,ENST00000394071,NM_001043318.1;ELMSAN1,missense_variant,p.Arg569Ser,ENST00000435371,;ELMSAN1,missense_variant,p.Arg569Ser,ENST00000423556,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,missense_variant,p.Arg391Ser,ENST00000451078,;							MODERATE	1705/3138	R569S	EMSA1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000286523		CCDS9819.1			1	
AGBL2	0	LGGM	GRCh37	11	47681729	47681729	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	24	3	.	.	ENST00000525123.1:c.2705C>A	p.Pro902Gln	p.P902Q	ENST00000525123	NM_024783.3	902	cCg/cAg	0	1	1	UPI00001A95E3	0	NA	ENST00000525123		ENSG00000165923	26296		27	1.04		HGNC	p.P904Q		AGBL2		SNV							ENST00000357610	protein_coding	getma.org/?cm=var&var=hg19,11,47681729,G,T&fts=all				P/Q		T	low	2991/3577		getma.org/?cm=msa&ty=f&p=CBPC2_HUMAN&rb=871&re=902&var=P902Q	deleterious_low_confidence(0)	E9PJH3_HUMAN,E9PI49_HUMAN			YES	AGBL2,missense_variant,p.Pro902Gln,ENST00000525123,NM_024783.3;AGBL2,missense_variant,p.Pro904Gln,ENST00000357610,;AGBL2,missense_variant,p.Pro902Gln,ENST00000298861,;AGBL2,3_prime_UTR_variant,,ENST00000528609,;							MODERATE	2705/2709	P902Q	CBPC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000435582		CCDS7944.1			1	
MAP4	0	LGGM	GRCh37	3	47932621	47932621	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	47	3	.	.	ENST00000360240.6:c.2000-13608G>T		*667*	ENST00000360240	NM_002375.4			0	1	1	UPI000020A6A4	0		ENST00000360240		ENSG00000047849	6862		50			HGNC	p.R454L		MAP4		SNV							ENST00000420772	protein_coding							A		-/5142							YES	MAP4,missense_variant,p.Arg454Leu,ENST00000420772,;MAP4,missense_variant,p.Arg69Leu,ENST00000335271,;MAP4,5_prime_UTR_variant,,ENST00000441748,;MAP4,intron_variant,,ENST00000426837,;MAP4,intron_variant,,ENST00000395734,NM_001134364.1;MAP4,intron_variant,,ENST00000383737,;MAP4,intron_variant,,ENST00000360240,NM_002375.4;MAP4,intron_variant,,ENST00000264724,;MAP4,intron_variant,,ENST00000429422,;MAP4,intron_variant,,ENST00000383736,;MAP4,intron_variant,,ENST00000482752,;MAP4,non_coding_transcript_exon_variant,,ENST00000497735,;							MODIFIER	-/3459		MAP4_HUMAN			Transcript			.	ENSP00000353375		CCDS33750.1			1	
NCKIPSD	0	LGGM	GRCh37	3	48718772	48718772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	13	3	.	.	ENST00000294129.2:c.1040C>A	p.Pro347Gln	p.P347Q	ENST00000294129	NM_016453.3	347	cCg/cAg	0	1	1	UPI0000135D86	0	NA	ENST00000294129		ENSG00000213672	15486		16	2.275		HGNC	p.P347Q		NCKIPSD		SNV							ENST00000439518	protein_coding	getma.org/?cm=var&var=hg19,3,48718772,G,T&fts=all		hmmpanther:PTHR13357		P/Q		T	medium	1160/2989		getma.org/?cm=msa&ty=f&p=SPN90_HUMAN&rb=251&re=450&var=P347Q	deleterious(0.02)	C9JMQ4_HUMAN,C9JC20_HUMAN			YES	NCKIPSD,missense_variant,p.Pro347Gln,ENST00000294129,NM_016453.3;NCKIPSD,missense_variant,p.Pro340Gln,ENST00000416649,NM_184231.2;NCKIPSD,missense_variant,p.Pro347Gln,ENST00000341520,;NCKIPSD,missense_variant,p.Pro347Gln,ENST00000439518,;NCKIPSD,missense_variant,p.Pro83Gln,ENST00000415281,;NCKIPSD,downstream_gene_variant,,ENST00000426678,;NCKIPSD,downstream_gene_variant,,ENST00000453349,;NCKIPSD,upstream_gene_variant,,ENST00000413374,;NCKIPSD,downstream_gene_variant,,ENST00000454134,;NCKIPSD,upstream_gene_variant,,ENST00000470006,;							MODERATE	1040/2169	P347Q	SPN90_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000294129		CCDS2776.1			1	
ZNF772	0	LGGM	GRCh37	19	57984677	57984677	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	43	3	.	.	ENST00000343280.4:c.1435C>A	p.Arg479Ser	p.R479S	ENST00000343280	NM_001024596.2	479	Cgc/Agc	0	1	1	UPI000022AA0A	0	getma.org/pdb.php?prot=ZN772_HUMAN&from=474&to=489&var=R479S	ENST00000343280		ENSG00000197128	33106		46	1.325		HGNC	p.R367S		ZNF772		SNV							ENST00000427512	protein_coding	getma.org/?cm=var&var=hg19,19,57984677,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/S		T	low	1696/5419		getma.org/?cm=msa&ty=f&p=ZN772_HUMAN&rb=444&re=489&var=R479S	tolerated(0.36)				YES	ZNF772,missense_variant,p.Arg479Ser,ENST00000343280,NM_001024596.2;ZNF772,missense_variant,p.Arg367Ser,ENST00000427512,;ZNF772,missense_variant,p.Arg438Ser,ENST00000356584,NM_001144068.1;ZNF772,3_prime_UTR_variant,,ENST00000425074,;ZNF772,intron_variant,,ENST00000600175,;AC004076.9,intron_variant,,ENST00000596831,;ZNF772,intron_variant,,ENST00000601768,;AC003005.2,upstream_gene_variant,,ENST00000595422,;AC003005.2,upstream_gene_variant,,ENST00000594562,;AC004076.9,intron_variant,,ENST00000415705,;ZNF772,downstream_gene_variant,,ENST00000450712,;							MODERATE	1435/1470	R479S	ZN772_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000341165		CCDS33133.1			1	
AFAP1	0	LGGM	GRCh37	4	7787937	7787937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	38	3	.	.	ENST00000420658.1:c.1514C>A	p.Pro505Gln	p.P505Q	ENST00000420658	NM_001134647.1	505	cCg/cAg	0	1		UPI0000233618	0	NA	ENST00000358461		ENSG00000196526	24017		41	2.425		HGNC	p.P505Q		AFAP1		SNV							ENST00000358461	protein_coding	getma.org/?cm=var&var=hg19,4,7787937,G,T&fts=all		hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8		P/Q		T	medium	1787/7516		getma.org/?cm=msa&ty=f&p=AFAP1_HUMAN&rb=441&re=640&var=P505Q	deleterious(0.03)					AFAP1,missense_variant,p.Pro505Gln,ENST00000420658,NM_001134647.1;AFAP1,missense_variant,p.Pro505Gln,ENST00000358461,NM_198595.2;AFAP1,missense_variant,p.Pro505Gln,ENST00000360265,;AFAP1,missense_variant,p.Pro505Gln,ENST00000382543,;AFAP1,non_coding_transcript_exon_variant,,ENST00000513842,;AFAP1,downstream_gene_variant,,ENST00000508415,;							MODERATE	1514/2193	P505Q	AFAP1_HUMAN			Transcript		possibly_damaging(0.516)	.	ENSP00000351245		CCDS3397.1			1	
EPHA1	0	LGGM	GRCh37	7	143098569	143098569	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	46	3	.	.	ENST00000275815.3:c.280C>A	p.Arg94Ser	p.R94S	ENST00000275815	NM_005232.4	94	Cgc/Agc	0	1	1	UPI000013DA82	0	getma.org/pdb.php?prot=EPHA1_HUMAN&from=27&to=204&var=R94S	ENST00000275815		ENSG00000146904	3385		49	2.99		HGNC	p.R94S		EPHA1		SNV							ENST00000275815	protein_coding	getma.org/?cm=var&var=hg19,7,143098569,G,T&fts=all		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		R/S		T	medium	367/3363		getma.org/?cm=msa&ty=f&p=EPHA1_HUMAN&rb=27&re=204&var=R94S	deleterious(0.01)				YES	EPHA1,missense_variant,p.Arg94Ser,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,;							MODERATE	280/2931	R94S	EPHA1_HUMAN			Transcript		benign(0.168)	.	ENSP00000275815		CCDS5884.1			1	
TMED8	0	LGGM	GRCh37	14	77809701	77809701	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	10	3	.	.	ENST00000216468.7:c.580C>A	p.Arg194=	p.R194=	ENST00000216468	NM_213601.1	194	Cgg/Agg	0	1	1	UPI0000161A22	0		ENST00000216468		ENSG00000100580	18633		13			HGNC	p.R194R		TMED8		SNV							ENST00000216468	protein_coding			Superfamily_domains:0041713,Pfam_domain:PF13897,hmmpanther:PTHR22973:SF3,hmmpanther:PTHR22973,PROSITE_profiles:PS50866		R		T		636/7784				Q86T10_HUMAN			YES	TMED8,synonymous_variant,p.=,ENST00000216468,NM_213601.1;							LOW	580/978		TMED8_HUMAN			Transcript			.	ENSP00000216468		CCDS32125.1			1	
CHD8	0	LGGM	GRCh37	14	21862300	21862300	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	40	3	.	.	ENST00000399982.2:c.5654G>T	p.Arg1885Leu	p.R1885L	ENST00000399982	NM_001170629.1	1885	cGg/cTg	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		43	1.54		HGNC	p.R1885L		CHD8		SNV			1				ENST00000557364	protein_coding	getma.org/?cm=var&var=hg19,14,21862300,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Low_complexity_(Seg):seg		R/L		A	low	5719/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1848&re=1971&var=R1885L	deleterious(0.03)				YES	CHD8,missense_variant,p.Arg1885Leu,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Arg1885Leu,ENST00000557364,;CHD8,missense_variant,p.Arg1606Leu,ENST00000430710,NM_020920.3;CHD8,upstream_gene_variant,,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,NR_002916.2;SNORD9,upstream_gene_variant,,ENST00000362566,NR_003029.2;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000555301,;CHD8,non_coding_transcript_exon_variant,,ENST00000557329,;RP11-689J19.1,upstream_gene_variant,,ENST00000480068,;							MODERATE	5654/7746	R1885L	CHD8_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000382863		CCDS53885.1			1	
CCT3	0	LGGM	GRCh37	1	156305656	156305656	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	45	3	.	.	ENST00000295688.3:c.55G>T	p.Gly19Ter	p.G19*	ENST00000295688	NM_005998.4	19	Gga/Tga	0	1	1	UPI000040EEFE	0	NA	ENST00000295688		ENSG00000163468	1616		48	0		HGNC	p.G43X		CCT3		SNV							ENST00000413555	protein_coding	getma.org/?cm=var&var=hg19,1,156305656,C,A&fts=all		Gene3D:1.10.560.10,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF63,Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02344		G/*		A	NA	336/2150		NA		Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN			YES	CCT3,stop_gained,p.Gly19Ter,ENST00000295688,NM_005998.4;CCT3,stop_gained,p.Gly19Ter,ENST00000368259,NM_001008800.2;CCT3,stop_gained,p.Gly43Ter,ENST00000413555,;CCT3,stop_gained,p.Gly19Ter,ENST00000496684,;CCT3,stop_gained,p.Gly43Ter,ENST00000446905,;CCT3,stop_gained,p.Gly19Ter,ENST00000478640,;CCT3,stop_gained,p.Gly19Ter,ENST00000415548,;CCT3,5_prime_UTR_variant,,ENST00000368261,;CCT3,5_prime_UTR_variant,,ENST00000472765,;CCT3,intron_variant,,ENST00000533194,;TSACC,upstream_gene_variant,,ENST00000368255,NM_144627.3;TSACC,upstream_gene_variant,,ENST00000481479,;TSACC,upstream_gene_variant,,ENST00000470342,;TSACC,upstream_gene_variant,,ENST00000368254,;TSACC,upstream_gene_variant,,ENST00000368253,;TSACC,upstream_gene_variant,,ENST00000368252,;TSACC,upstream_gene_variant,,ENST00000466306,;TSACC,upstream_gene_variant,,ENST00000368251,;CCT3,non_coding_transcript_exon_variant,,ENST00000368256,;CCT3,intron_variant,,ENST00000463132,;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,non_coding_transcript_exon_variant,,ENST00000489870,;CCT3,non_coding_transcript_exon_variant,,ENST00000490221,;CCT3,intron_variant,,ENST00000368258,;							HIGH	55/1638	G19*	TCPG_HUMAN			Transcript			.	ENSP00000295688		CCDS1140.2			1	
USP44	0	LGGM	GRCh37	12	95927928	95927928	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	30	3	.	.	ENST00000258499.3:c.105C>A	p.Thr35=	p.T35=	ENST00000258499	NM_032147.3	35	acC/acA	0	1	1	UPI000013CFDB	0		ENST00000258499		ENSG00000136014	20064		33			HGNC	p.T35T		USP44		SNV							ENST00000537435	protein_coding			Gene3D:3.30.40.10,Pfam_domain:PF02148,PROSITE_profiles:PS50271,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF401,SMART_domains:SM00290,Superfamily_domains:SSF57850		T		T		394/4022				F8VVD6_HUMAN,F8VRW0_HUMAN			YES	USP44,synonymous_variant,p.=,ENST00000258499,NM_032147.3;USP44,synonymous_variant,p.=,ENST00000393091,NM_001042403.2;USP44,synonymous_variant,p.=,ENST00000537435,NM_001278393.1;USP44,synonymous_variant,p.=,ENST00000552440,;USP44,synonymous_variant,p.=,ENST00000549639,;USP44,synonymous_variant,p.=,ENST00000551837,;							LOW	105/2139		UBP44_HUMAN			Transcript			.	ENSP00000258499		CCDS9053.1			1	
TMPRSS3	0	LGGM	GRCh37	21	43802339	43802339	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072525	H072525N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	12	3	.	.	ENST00000291532.3:c.787T>C	p.Tyr263His	p.Y263H	ENST00000291532	NM_032404.2	263	Tac/Cac	0	1	1	UPI0000047B13	0	getma.org/pdb.php?prot=TMPS3_HUMAN&from=217&to=444&var=Y263H	ENST00000291532		ENSG00000160183	11877		15	0.49		HGNC	p.Y263H		TMPRSS3		SNV			1				ENST00000398397	protein_coding	getma.org/?cm=var&var=hg19,21,43802339,A,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		Y/H		G	neutral	1743/3193		getma.org/?cm=msa&ty=f&p=TMPS3_HUMAN&rb=217&re=444&var=Y263H	tolerated(0.53)				YES	TMPRSS3,missense_variant,p.Tyr263His,ENST00000291532,NM_032404.2;TMPRSS3,missense_variant,p.Tyr347His,ENST00000380399,;TMPRSS3,missense_variant,p.Tyr261His,ENST00000398405,;TMPRSS3,missense_variant,p.Tyr263His,ENST00000433957,NM_001256317.1,NM_024022.2;TMPRSS3,missense_variant,p.Tyr263His,ENST00000398397,NM_032405.1;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000478680,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000476848,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;							MODERATE	787/1365	Y263H	TMPS3_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000291532		CCDS13686.1			1	
WDR49	0	LGGM	GRCh37	3	167245788	167245788	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	15	3	.	.	ENST00000308378.3:c.1368C>A	p.Ser456=	p.S456=	ENST00000308378	NM_178824.3	456	tcC/tcA	0	1	1	UPI00000746AD	0		ENST00000308378		ENSG00000174776	26587		18			HGNC	p.S456S		WDR49		SNV							ENST00000308378	protein_coding			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294		S		T		1674/2594							YES	WDR49,synonymous_variant,p.=,ENST00000308378,NM_178824.3;WDR49,synonymous_variant,p.=,ENST00000476376,;WDR49,intron_variant,,ENST00000472600,;WDR49,intron_variant,,ENST00000453925,;WDR49,intron_variant,,ENST00000479765,;WDR49,intron_variant,,ENST00000493061,;WDR49,downstream_gene_variant,,ENST00000460448,;							LOW	1368/2094		WDR49_HUMAN			Transcript			.	ENSP00000311343		CCDS3201.1			1	
CNTNAP3	0	LGGM	GRCh37	9	39165968	39165968	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	7	3	.	.	ENST00000297668.6:c.1439C>T	p.Ala480Val	p.A480V	ENST00000297668	NM_033655.3	480	gCt/gTt	0	1	1	UPI000013E43B	0	getma.org/pdb.php?prot=CNTP3_HUMAN&from=398&to=522&var=A480V	ENST00000297668		ENSG00000106714	13834		10	0.345		HGNC	p.A392V		CNTNAP3		SNV							ENST00000358144	protein_coding	getma.org/?cm=var&var=hg19,9,39165968,G,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		A/V		A	neutral	1513/5064		getma.org/?cm=msa&ty=f&p=CNTP3_HUMAN&rb=398&re=522&var=A480V	tolerated(0.12)				YES	CNTNAP3,missense_variant,p.Ala480Val,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Ala392Val,ENST00000358144,;CNTNAP3,missense_variant,p.Ala480Val,ENST00000377656,;CNTNAP3,missense_variant,p.Ala480Val,ENST00000377659,;CNTNAP3,missense_variant,p.Ala480Val,ENST00000323947,;CNTNAP3,missense_variant,p.Ala480Val,ENST00000443583,;							MODERATE	1439/3867	A480V	CNTP3_HUMAN			Transcript		benign(0.103)	.	ENSP00000297668		CCDS6616.1			1	
PCSK9	0	LGGM	GRCh37	1	55524223	55524223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	41	3	.	.	ENST00000302118.5:c.1406G>T	p.Arg469Leu	p.R469L	ENST00000302118	NM_174936.3	469	cGg/cTg	0	1	1	UPI00001615E1	0	getma.org/pdb.php?prot=PCSK9_HUMAN&from=444&to=643&var=R469L	ENST00000302118		ENSG00000169174	20001		44	1.61		HGNC	p.G252X		PCSK9		SNV			1				ENST00000543384	protein_coding	getma.org/?cm=var&var=hg19,1,55524223,G,T&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333		R/L		T	low	1696/3637		getma.org/?cm=msa&ty=f&p=PCSK9_HUMAN&rb=444&re=643&var=R469L	tolerated(0.32)				YES	PCSK9,stop_gained,p.Gly252Ter,ENST00000543384,;PCSK9,missense_variant,p.Arg469Leu,ENST00000302118,NM_174936.3;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;							MODERATE	1406/2079	R469L	PCSK9_HUMAN			Transcript		benign(0.195)	.	ENSP00000303208		CCDS603.1			1	
ANKRD36C	0	LGGM	GRCh37	2	96619721	96619721	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	66	4	.	.	ENST00000528268.1:c.1169C>A	p.Pro390His	p.P390H	ENST00000528268		390	cCt/cAt	0	1		UPI00016620F5	0	NA	ENST00000456556		ENSG00000174501	32946		70	0		HGNC	p.P390H		ANKRD36C		SNV							ENST00000456556	protein_coding	getma.org/?cm=var&var=hg19,2,96619721,G,T&fts=all		hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176		P/H		T	neutral	1254/5428		getma.org/?cm=msa&ty=f&p=E9PJI0_HUMAN&rb=228&re=427&var=P390H	deleterious_low_confidence(0.03)	I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN				ANKRD36C,missense_variant,p.Pro390His,ENST00000456556,;ANKRD36C,missense_variant,p.Pro390His,ENST00000528268,;							MODERATE	1169/5337	P390H	AN36C_HUMAN			Transcript		benign(0.002)	.	ENSP00000403302					1	
PPL	0	LGGM	GRCh37	16	4944584	4944584	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	9	4	.	.	ENST00000345988.2:c.1278G>T	p.Gln426His	p.Q426H	ENST00000345988	NM_002705.4	426	caG/caT	0	1	1	UPI00001AE832	0	getma.org/pdb.php?prot=PEPL_HUMAN&from=401&to=600&var=Q426H	ENST00000345988		ENSG00000118898	9273		13	1.265		HGNC	p.Q424H		PPL		SNV							ENST00000590782	protein_coding	getma.org/?cm=var&var=hg19,16,4944584,C,A&fts=all		hmmpanther:PTHR23169,SMART_domains:SM00150		Q/H		A	low	1368/6238		getma.org/?cm=msa&ty=f&p=PEPL_HUMAN&rb=401&re=600&var=Q426H	tolerated(0.15)				YES	PPL,missense_variant,p.Gln426His,ENST00000345988,NM_002705.4;PPL,missense_variant,p.Gln424His,ENST00000590782,;PPL,intron_variant,,ENST00000592772,;PPL,upstream_gene_variant,,ENST00000588556,;PPL,upstream_gene_variant,,ENST00000590093,;PPL,upstream_gene_variant,,ENST00000589090,;							MODERATE	1278/5271	Q426H	PEPL_HUMAN			Transcript		benign(0.005)	.	ENSP00000340510		CCDS10526.1			1	
DDX28	0	LGGM	GRCh37	16	68056584	68056584	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	2	4	.	.	ENST00000332395.5:c.522C>A	p.Thr174=	p.T174=	ENST00000332395	NM_018380.3	174	acC/acA	0	1	1	UPI000006D6C8	0		ENST00000332395		ENSG00000182810	17330		6			HGNC	p.T174T		DDX28		SNV							ENST00000332395	protein_coding			PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF35,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540		T		T		1187/2592							YES	DDX28,synonymous_variant,p.=,ENST00000332395,NM_018380.3;DUS2,intron_variant,,ENST00000571081,;DUS2,intron_variant,,ENST00000570709,;DUS2,intron_variant,,ENST00000576994,;DUS2,intron_variant,,ENST00000575677,;DUS2,intron_variant,,ENST00000566306,;DUS2,upstream_gene_variant,,ENST00000565263,NM_017803.4;DUS2,upstream_gene_variant,,ENST00000358896,NM_001271762.1;DUS2,upstream_gene_variant,,ENST00000432752,NM_001271763.1;DUS2,upstream_gene_variant,,ENST00000567100,;DUS2,upstream_gene_variant,,ENST00000564781,;DUS2,upstream_gene_variant,,ENST00000568099,;DUS2,upstream_gene_variant,,ENST00000569289,;RNU6-359P,upstream_gene_variant,,ENST00000365466,;DUS2,upstream_gene_variant,,ENST00000564975,;							LOW	522/1623		DDX28_HUMAN			Transcript			.	ENSP00000332340		CCDS10858.1			1	
MEOX2	0	LGGM	GRCh37	7	15652121	15652121	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	44	4	.	.	ENST00000262041.5:c.806C>A	p.Pro269Gln	p.P269Q	ENST00000262041	NM_005924.4	269	cCa/cAa	0	1	1	UPI000013D247	0	NA	ENST00000262041		ENSG00000106511	7014		48	0.805		HGNC	p.P269Q		MEOX2		SNV							ENST00000262041	protein_coding	getma.org/?cm=var&var=hg19,7,15652121,G,T&fts=all		hmmpanther:PTHR24328:SF1,hmmpanther:PTHR24328		P/Q		T	low	1216/2500		getma.org/?cm=msa&ty=f&p=MEOX2_HUMAN&rb=245&re=304&var=P269Q	deleterious_low_confidence(0)	Q6FHY5_HUMAN,A4D127_HUMAN			YES	MEOX2,missense_variant,p.Pro269Gln,ENST00000262041,NM_005924.4;							MODERATE	806/915	P269Q	MEOX2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000262041		CCDS34605.1			1	
ZNF618	0	LGGM	GRCh37	9	116764924	116764924	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	36	4	.	.	ENST00000288466.7:c.436G>T	p.Glu146Ter	p.E146*	ENST00000288466	NM_133374.2	146	Gag/Tag	0	1		UPI000046FD4E	0	NA	ENST00000374126		ENSG00000157657	29416		40	0		HGNC	p.E178X		ZNF618		SNV							ENST00000374126	protein_coding	getma.org/?cm=var&var=hg19,9,116764924,G,T&fts=all		Superfamily_domains:SSF57667,hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12		E/*		T	NA	631/3018		NA						ZNF618,stop_gained,p.Glu146Ter,ENST00000288466,NM_133374.2;ZNF618,stop_gained,p.Glu178Ter,ENST00000374126,;ZNF618,stop_gained,p.Glu146Ter,ENST00000374124,;ZNF618,stop_gained,p.Glu146Ter,ENST00000452710,;ZNF618,non_coding_transcript_exon_variant,,ENST00000481558,;							HIGH	532/2865	E146*	ZN618_HUMAN			Transcript			.	ENSP00000363241					1	
CDH23	0	LGGM	GRCh37	10	73472513	73472513	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	14	4	.	.	ENST00000441508.2:c.*3180C>A		*1060*	ENST00000441508	NM_001164375.2			0	1		UPI0002B831D5	0	getma.org/pdb.php?prot=CAD23_HUMAN&from=1103&to=1208&var=Q1104H	ENST00000224721		ENSG00000107736	13733		18	0.855		HGNC	p.Q621H		CDH23		SNV			1				ENST00000442677	protein_coding	getma.org/?cm=var&var=hg19,10,73472513,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		Q/H		T	low	3332/10085		getma.org/?cm=msa&ty=f&p=CAD23_HUMAN&rb=1103&re=1208&var=Q1104H	deleterious(0.02)					CDH23,missense_variant,p.Gln1109His,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Gln696His,ENST00000442677,;CDH23,missense_variant,p.Gln915His,ENST00000466757,;C10orf105,3_prime_UTR_variant,,ENST00000441508,NM_001164375.2;C10orf105,3_prime_UTR_variant,,ENST00000398786,NM_001168390.1;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;							MODERATE	3327/10080	Q1104H				Transcript		probably_damaging(0.994)	.	ENSP00000224721					1	
KIAA1211L	0	LGGM	GRCh37	2	99439396	99439396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	4	4	.	.	ENST00000397899.2:c.1340C>A	p.Pro447Gln	p.P447Q	ENST00000397899	NM_207362.2	447	cCg/cAg	0	1	1	UPI0000E59245	0	NA	ENST00000397899		ENSG00000196872	33454		8	1.355		HGNC	p.P447Q		KIAA1211L		SNV							ENST00000397899	protein_coding	getma.org/?cm=var&var=hg19,2,99439396,G,T&fts=all		hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118		P/Q		T	low	1672/3907		getma.org/?cm=msa&ty=f&p=CB055_HUMAN&rb=1&re=960&var=P447Q	tolerated(0.4)				YES	KIAA1211L,missense_variant,p.Pro447Gln,ENST00000397899,NM_207362.2;KIAA1211L,downstream_gene_variant,,ENST00000423771,;KIAA1211L,downstream_gene_variant,,ENST00000462314,;KIAA1211L,upstream_gene_variant,,ENST00000464413,;							MODERATE	1340/2889	P447Q	K121L_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000380996		CCDS42720.1			1	
TLR7	0	LGGM	GRCh37	X	12906343	12906343	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	70	4	.	.	ENST00000380659.3:c.2716G>T	p.Glu906Ter	p.E906*	ENST00000380659	NM_016562.3	906	Gag/Tag	0	1	1	UPI000004BAF6	0	NA	ENST00000380659		ENSG00000196664	15631		74	0		HGNC	p.E906X		TLR7		SNV							ENST00000380659	protein_coding	getma.org/?cm=var&var=hg19,X,12906343,G,T&fts=all		Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS50104		E/*		T	NA	2855/5011		NA		B2R9N9_HUMAN			YES	TLR7,stop_gained,p.Glu906Ter,ENST00000380659,NM_016562.3;							HIGH	2716/3150	E906*	TLR7_HUMAN			Transcript			.	ENSP00000370034		CCDS14151.1			1	
LRP3	0	LGGM	GRCh37	19	33687653	33687653	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	45	4	.	.	ENST00000253193.7:c.91G>T	p.Gly31Trp	p.G31W	ENST00000253193	NM_002333.3	31	Ggg/Tgg	0	1	1	UPI0000047A9C	0	NA	ENST00000253193		ENSG00000130881	6695		49	0		HGNC	p.G31W		LRP3		SNV							ENST00000253193	protein_coding	getma.org/?cm=var&var=hg19,19,33687653,G,T&fts=all		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF211		G/W		T	neutral	293/2728		getma.org/?cm=msa&ty=f&p=LRP3_HUMAN&rb=1&re=42&var=G31W	deleterious(0.03)				YES	LRP3,missense_variant,p.Gly31Trp,ENST00000253193,NM_002333.3;LRP3,5_prime_UTR_variant,,ENST00000592484,;LRP3,non_coding_transcript_exon_variant,,ENST00000590275,;							MODERATE	91/2313	G31W	LRP3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000253193		CCDS12430.1			1	
OR2L3	0	LGGM	GRCh37	1	248224548	248224548	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072525	H072525N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	11	4	.	.	ENST00000359959.3:c.565A>G	p.Met189Val	p.M189V	ENST00000359959	NM_001004687.1	189	Atg/Gtg	0	1	1	UPI0000061EB8	0	NA	ENST00000359959		ENSG00000198128	15009		15	-0.315		HGNC	p.M189V		OR2L3		SNV							ENST00000359959	protein_coding	getma.org/?cm=var&var=hg19,1,248224548,A,G&fts=all		Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		M/V		G	neutral	565/939		getma.org/?cm=msa&ty=f&p=OR2L3_HUMAN&rb=138&re=282&var=M189V	tolerated(0.57)				YES	OR2L3,missense_variant,p.Met189Val,ENST00000359959,NM_001004687.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	565/939	M189V	OR2L3_HUMAN			Transcript		benign(0.003)	.	ENSP00000353044		CCDS31104.1			1	
GNRHR	0	LGGM	GRCh37	4	68619890	68619890	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	44	4	.	.	ENST00000226413.4:c.164C>G	p.Ser55Cys	p.S55C	ENST00000226413	NM_000406.2	55	tCt/tGt	0	1	1	UPI000004EEC8	0	NA	ENST00000226413		ENSG00000109163	4421		48	0.975		HGNC	p.S55C		GNRHR		SNV			1				ENST00000420975	protein_coding	getma.org/?cm=var&var=hg19,4,68619890,G,C&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF22,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/C		C	low	189/2164		getma.org/?cm=msa&ty=f&p=GNRHR_HUMAN&rb=1&re=61&var=S55C	deleterious(0.02)				YES	GNRHR,missense_variant,p.Ser55Cys,ENST00000226413,NM_000406.2;GNRHR,missense_variant,p.Ser55Cys,ENST00000420975,NM_001012763.1;UBA6-AS1,non_coding_transcript_exon_variant,,ENST00000502758,;UBA6-AS1,intron_variant,,ENST00000500538,;							MODERATE	164/987	S55C	GNRHR_HUMAN			Transcript		benign(0.005)	.	ENSP00000226413		CCDS3517.1			1	
TAOK2	0	LGGM	GRCh37	16	29996577	29996577	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	41	4	.	.	ENST00000308893.4:c.1466G>T	p.Arg489Leu	p.R489L	ENST00000308893	NM_016151.3	489	cGg/cTg	0	1	1	UPI000013EDDA	0	NA	ENST00000308893		ENSG00000149930	16835		45	2.505		HGNC	p.R489L		TAOK2		SNV							ENST00000279394	protein_coding	getma.org/?cm=var&var=hg19,16,29996577,G,T&fts=all		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF188		R/L		T	medium	2509/5169		getma.org/?cm=msa&ty=f&p=TAOK2_HUMAN&rb=486&re=646&var=R489L	deleterious(0.01)				YES	TAOK2,missense_variant,p.Arg489Leu,ENST00000308893,NM_016151.3,NM_001252043.1;TAOK2,missense_variant,p.Arg316Leu,ENST00000416441,;TAOK2,missense_variant,p.Arg489Leu,ENST00000279394,NM_004783.3;TAOK2,missense_variant,p.Arg489Leu,ENST00000543033,;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,;							MODERATE	1466/3708	R489L	TAOK2_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000310094		CCDS10663.1			1	
PPP2R2A	0	LGGM	GRCh37	8	26217796	26217796	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	55	4	.	.	ENST00000315985.7:c.488G>T	p.Arg163Leu	p.R163L	ENST00000315985	NM_001177591.1	163	cGa/cTa	0	1		UPI000000D997	0	getma.org/pdb.php?prot=2ABA_HUMAN&from=1&to=200&var=R153L	ENST00000380737		ENSG00000221914	9304		59	2.52		HGNC	p.R153L		PPP2R2A		SNV							ENST00000380737	protein_coding	getma.org/?cm=var&var=hg19,8,26217796,G,T&fts=all		PIRSF_domain:PIRSF037309,hmmpanther:PTHR11871,hmmpanther:PTHR11871:SF2		R/L		T	medium	787/3940		getma.org/?cm=msa&ty=f&p=2ABA_HUMAN&rb=1&re=200&var=R153L	deleterious(0)	E5RFR9_HUMAN				PPP2R2A,missense_variant,p.Arg153Leu,ENST00000380737,NM_002717.3;PPP2R2A,missense_variant,p.Arg163Leu,ENST00000315985,NM_001177591.1;PPP2R2A,splice_region_variant,,ENST00000522535,;PPP2R2A,splice_region_variant,,ENST00000521557,;PPP2R2A,splice_region_variant,,ENST00000523925,;PPP2R2A,intron_variant,,ENST00000524169,;PPP2R2A,splice_region_variant,,ENST00000523964,;PPP2R2A,downstream_gene_variant,,ENST00000519636,;PPP2R2A,downstream_gene_variant,,ENST00000524099,;PPP2R2A,downstream_gene_variant,,ENST00000520438,;PPP2R2A,splice_region_variant,,ENST00000518215,;PPP2R2A,splice_region_variant,,ENST00000518397,;PPP2R2A,splice_region_variant,,ENST00000519439,;PPP2R2A,3_prime_UTR_variant,,ENST00000520329,;PPP2R2A,upstream_gene_variant,,ENST00000517754,;PPP2R2A,upstream_gene_variant,,ENST00000518208,;PPP2R2A,upstream_gene_variant,,ENST00000518890,;PPP2R2A,downstream_gene_variant,,ENST00000521484,;							MODERATE	458/1344	R153L	2ABA_HUMAN			Transcript		benign(0.009)	.	ENSP00000370113		CCDS34867.1			1	
NUP43	0	LGGM	GRCh37	6	150067796	150067796	+	upstream_gene_variant	5'Flank	SNP	G	G	C	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	11	4	.	.				ENST00000340413	NM_198887.1			0	1	1	UPI000013071D	0		ENST00000340413		ENSG00000120253	21182		15		88	HGNC	p.L7V		NUP43		SNV							ENST00000367403	protein_coding							C		-/3874				A0PJK4_HUMAN			YES	NUP43,missense_variant,p.Leu7Val,ENST00000367403,;NUP43,upstream_gene_variant,,ENST00000340413,NM_198887.1;NUP43,upstream_gene_variant,,ENST00000460354,;PCMT1,upstream_gene_variant,,ENST00000464889,;PCMT1,upstream_gene_variant,,ENST00000367384,;PCMT1,upstream_gene_variant,,ENST00000367380,NM_001252049.1,NM_005389.2,NM_001252050.1,NM_001252051.1,NM_001252052.1;PCMT1,upstream_gene_variant,,ENST00000367378,NM_001252053.1;NUP43,upstream_gene_variant,,ENST00000367404,;PCMT1,upstream_gene_variant,,ENST00000544496,;NUP43,upstream_gene_variant,,ENST00000543637,;PCMT1,upstream_gene_variant,,ENST00000495487,;NUP43,intron_variant,,ENST00000463048,;PCMT1,upstream_gene_variant,,ENST00000484601,;NUP43,upstream_gene_variant,,ENST00000403890,;NUP43,upstream_gene_variant,,ENST00000367402,;PCMT1,upstream_gene_variant,,ENST00000486585,;PCMT1,upstream_gene_variant,,ENST00000494411,;PCMT1,upstream_gene_variant,,ENST00000460828,;							MODIFIER	-/1143		NUP43_HUMAN			Transcript			.	ENSP00000342262		CCDS5218.1			1	
POU6F2	0	LGGM	GRCh37	7	39446282	39446282	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072525	H072525N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	62	4	.	.	ENST00000403058.1:c.969T>C	p.Asn323=	p.N323=	ENST00000403058	NM_001166018.1	323	aaT/aaC	0	1	1	UPI0000480E81	0		ENST00000403058		ENSG00000106536	21694		66			HGNC	p.N323N		POU6F2		SNV			1				ENST00000518318	protein_coding			hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636		N		C		1123/2335				H0YL15_HUMAN			YES	POU6F2,synonymous_variant,p.=,ENST00000518318,;POU6F2,synonymous_variant,p.=,ENST00000403058,NM_001166018.1,NM_007252.3;POU6F2,synonymous_variant,p.=,ENST00000520104,;POU6F2,intron_variant,,ENST00000559001,;POU6F2,intron_variant,,ENST00000524147,;POU6F2-AS1,upstream_gene_variant,,ENST00000433519,;POU6F2,synonymous_variant,p.=,ENST00000416452,;							LOW	969/2076		PO6F2_HUMAN			Transcript			.	ENSP00000384004		CCDS34620.2			1	
SNX27	0	LGGM	GRCh37	1	151665409	151665409	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	44	4	.	.	ENST00000368843.3:c.1412G>T	p.Trp471Leu	p.W471L	ENST00000368843	NM_030918.5	471	tGg/tTg	0	1		UPI000004EDFB	0	NA	ENST00000458013		ENSG00000143376	20073		48	2.365		HGNC	p.W471L		SNX27		SNV							ENST00000458013	protein_coding	getma.org/?cm=var&var=hg19,1,151665409,G,T&fts=all		hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF1		W/L		T	medium	1532/6403		getma.org/?cm=msa&ty=f&p=SNX27_HUMAN&rb=362&re=541&var=W471L	deleterious(0)					SNX27,missense_variant,p.Trp471Leu,ENST00000368843,NM_030918.5;SNX27,missense_variant,p.Trp471Leu,ENST00000458013,;SNX27,missense_variant,p.Trp378Leu,ENST00000368838,;SNX27,3_prime_UTR_variant,,ENST00000368841,;							MODERATE	1412/1626	W471L	SNX27_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000400333					1	
MTDH	0	LGGM	GRCh37	8	98703279	98703279	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	34	4	.	.	ENST00000336273.3:c.911G>A	p.Trp304Ter	p.W304*	ENST00000336273	NM_178812.3	304	tGg/tAg	0	1	1	UPI0000061E17	0	NA	ENST00000336273		ENSG00000147649	29608		38	0		HGNC	p.W281X		MTDH		SNV							ENST00000519934	protein_coding	getma.org/?cm=var&var=hg19,8,98703279,G,A&fts=all		hmmpanther:PTHR23251:SF0,hmmpanther:PTHR23251		W/*		A	NA	1239/6177		NA					YES	MTDH,stop_gained,p.Trp304Ter,ENST00000336273,NM_178812.3;MTDH,stop_gained,p.Trp281Ter,ENST00000519934,;MTDH,stop_gained,p.Trp187Ter,ENST00000522313,;MTDH,upstream_gene_variant,,ENST00000521933,;MTDH,stop_gained,p.Trp12Ter,ENST00000519293,;							HIGH	911/1749	W304*	LYRIC_HUMAN			Transcript			.	ENSP00000338235		CCDS6274.1			1	
NUMA1	0	LGGM	GRCh37	11	71717143	71717143	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	15	4	.	.	ENST00000393695.3:c.5630G>A	p.Arg1877His	p.R1877H	ENST00000393695	NM_006185.2	1877	cGc/cAc	0	1	1	UPI000013DB8B	0	NA	ENST00000393695		ENSG00000137497	8059		19	0.805		HGNC	p.R1877H	rs372962203	NUMA1		SNV	T:0.0002		1	9.68E-05			ENST00000393695	protein_coding	getma.org/?cm=var&var=hg19,11,71717143,C,T&fts=all	T:0.0008	hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24		R/H	T:0	T	low	5962/7343	3.01E-05	getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=1686&re=2113&var=R1877H		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	T:0	T:0	YES	NUMA1,missense_variant,p.Arg1877His,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Arg1863His,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Arg741His,ENST00000351960,;NUMA1,missense_variant,p.Arg726His,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,;		T:0.0002					MODERATE	5630/6348	R1877H	NUMA1_HUMAN		T:0	Transcript		probably_damaging(0.999)	.	ENSP00000377298	2.47E-05	CCDS31633.1		T:0	1	
FZD3	0	LGGM	GRCh37	8	28413314	28413314	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	45	4	.	.	ENST00000240093.3:c.1613G>T	p.Arg538Met	p.R538M	ENST00000240093	NM_017412.3	538	aGg/aTg	0	1	1	UPI000003156A	0	NA	ENST00000240093		ENSG00000104290	4041		49	0.975		HGNC	p.R538M		FZD3		SNV							ENST00000537916	protein_coding	getma.org/?cm=var&var=hg19,8,28413314,G,T&fts=all		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22		R/M		T	low	2091/13726		getma.org/?cm=msa&ty=f&p=FZD3_HUMAN&rb=518&re=666&var=R538M	deleterious(0.02)	E5RGI9_HUMAN			YES	FZD3,missense_variant,p.Arg538Met,ENST00000240093,NM_017412.3;FZD3,missense_variant,p.Arg538Met,ENST00000537916,NM_145866.1;							MODERATE	1613/2001	R538M	FZD3_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000240093		CCDS6069.1			1	
PCDHGA12	0	LGGM	GRCh37	5	140812549	140812549	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	87	5	.	.	ENST00000252085.3:c.2223G>T	p.Val741=	p.V741=	ENST00000252085	NM_003735.2	741	gtG/gtT	0	1	1	UPI0000073EA1	0		ENST00000252085		ENSG00000253159	8699		92			HGNC	p.V741V		PCDHGA12		SNV							ENST00000252085	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85		V		T		2365/4747				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA12,synonymous_variant,p.=,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;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;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,;							LOW	2223/2799		PCDGC_HUMAN			Transcript			.	ENSP00000252085		CCDS4260.1			1	
CRAMP1L	0	LGGM	GRCh37	16	1712607	1712607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	91	5	.	.	ENST00000397412.3:c.2530G>T	p.Gly844Trp	p.G844W	ENST00000397412		844	Ggg/Tgg	0	1		UPI000066D946	0	NA	ENST00000293925		ENSG00000007545	14122		96	0.895		HGNC	p.G222W		CRAMP1L		SNV							ENST00000262317	protein_coding	getma.org/?cm=var&var=hg19,16,1712607,G,T&fts=all		hmmpanther:PTHR21677		G/W		T	low	2530/7671		getma.org/?cm=msa&ty=f&p=CRML_HUMAN&rb=797&re=1267&var=G844W	deleterious(0)	B2RNX8_HUMAN				CRAMP1L,missense_variant,p.Gly844Trp,ENST00000397412,;CRAMP1L,missense_variant,p.Gly844Trp,ENST00000293925,NM_020825.3;CRAMP1L,missense_variant,p.Gly841Trp,ENST00000436138,;CRAMP1L,missense_variant,p.Gly222Trp,ENST00000262317,;CRAMP1L,missense_variant,p.Gly2Trp,ENST00000415022,;LA16c-431H6.6,3_prime_UTR_variant,,ENST00000454337,;CRAMP1L,non_coding_transcript_exon_variant,,ENST00000492778,;CRAMP1L,non_coding_transcript_exon_variant,,ENST00000498594,;CRAMP1L,upstream_gene_variant,,ENST00000467286,;CRAMP1L,upstream_gene_variant,,ENST00000466562,;							MODERATE	2530/3810	G844W	CRML_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000293925		CCDS10440.2			1	
TP53	0	LGGM	GRCh37	17	7578497	7578497	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	2	5	.	.	ENST00000269305.4:c.433del	p.Leu145CysfsTer25	p.L145Cfs*25	ENST00000269305	NM_001126112.2	145	Ctg/tg	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		7			HGNC	p.L145fs		TP53		deletion			1				ENST00000508793	protein_coding			Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		L/X		-		623/2579				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			YES	TP53,frameshift_variant,p.Leu145CysfsTer25,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Leu145CysfsTer25,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Leu145CysfsTer25,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Leu145CysfsTer25,ENST00000445888,;TP53,frameshift_variant,p.Leu145CysfsTer25,ENST00000359597,;TP53,frameshift_variant,p.Leu145CysfsTer25,ENST00000413465,;TP53,frameshift_variant,p.Leu13CysfsTer25,ENST00000509690,;TP53,frameshift_variant,p.Leu145CysfsTer?,ENST00000508793,;TP53,frameshift_variant,p.Leu138CysfsTer?,ENST00000604348,;TP53,frameshift_variant,p.Leu52CysfsTer25,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,;							HIGH	433/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
ZNF329	0	LGGM	GRCh37	19	58639793	58639793	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	70	5	.	.	ENST00000598312.1:c.1078C>A	p.Gln360Lys	p.Q360K	ENST00000598312	NM_024620.3	360	Cag/Aag	0	1		UPI0000246E79	0	getma.org/pdb.php?prot=ZN329_HUMAN&from=357&to=382&var=Q360K	ENST00000358067		ENSG00000181894	14209		75	-0.77		HGNC	p.Q360K		ZNF329		SNV							ENST00000597186	protein_coding	getma.org/?cm=var&var=hg19,19,58639793,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF118,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/K		T	neutral	1285/3381		getma.org/?cm=msa&ty=f&p=ZN329_HUMAN&rb=337&re=402&var=Q360K	tolerated(0.13)	M0R136_HUMAN				ZNF329,missense_variant,p.Gln360Lys,ENST00000598312,NM_024620.3;ZNF329,missense_variant,p.Gln360Lys,ENST00000358067,;ZNF329,downstream_gene_variant,,ENST00000601887,;ZNF329,missense_variant,p.Gln360Lys,ENST00000597186,;ZNF329,missense_variant,p.Gln360Lys,ENST00000500161,;							MODERATE	1078/1626	Q360K	ZN329_HUMAN			Transcript		benign(0.388)	.	ENSP00000350773		CCDS12972.1			1	
GNB5	0	LGGM	GRCh37	15	52416715	52416715	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	58	5	.	.	ENST00000261837.7:c.1131C>A	p.Pro377=	p.P377=	ENST00000261837	NM_016194.3	377	ccC/ccA	0	1	1	UPI000006E214	0		ENST00000261837		ENSG00000069966	4401		63			HGNC	p.P335P		GNB5		SNV							ENST00000358784	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Superfamily_domains:SSF50978		P		T		1197/3091				H0YLU1_HUMAN			YES	GNB5,synonymous_variant,p.=,ENST00000261837,NM_016194.3;GNB5,synonymous_variant,p.=,ENST00000396335,;GNB5,synonymous_variant,p.=,ENST00000358784,NM_006578.3;CTD-2184D3.6,downstream_gene_variant,,ENST00000559825,;CTD-2184D3.7,upstream_gene_variant,,ENST00000557898,;GNB5,non_coding_transcript_exon_variant,,ENST00000559348,;GNB5,3_prime_UTR_variant,,ENST00000558519,;GNB5,non_coding_transcript_exon_variant,,ENST00000557936,;GNB5,intron_variant,,ENST00000560085,;GNB5,downstream_gene_variant,,ENST00000559541,;							LOW	1131/1188		GBB5_HUMAN			Transcript			.	ENSP00000261837		CCDS10149.1			1	
FOXE1	0	LGGM	GRCh37	9	100616482	100616482	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072525	H072525N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	13	5	.	.	ENST00000375123.3:c.286A>T	p.Lys96Ter	p.K96*	ENST00000375123	NM_004473.3	96	Aag/Tag	0	1	1	UPI0000167B2F	0	NA	ENST00000375123		ENSG00000178919	3806		18	0		HGNC	p.K96X		FOXE1		SNV			1				ENST00000375123	protein_coding	getma.org/?cm=var&var=hg19,9,100616482,A,T&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00250,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF156,SMART_domains:SM00339,Superfamily_domains:SSF46785		K/*		T	NA	947/3451		NA					YES	FOXE1,stop_gained,p.Lys96Ter,ENST00000375123,NM_004473.3;							HIGH	286/1122	K96*	FOXE1_HUMAN			Transcript			.	ENSP00000364265		CCDS35078.1			1	
HMCN1	0	LGGM	GRCh37	1	185964036	185964036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	55	5	.	.	ENST00000271588.4:c.3595C>A	p.Leu1199Ile	p.L1199I	ENST00000271588	NM_031935.2	1199	Ctt/Att	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=1171&to=1258&var=L1199I	ENST00000271588		ENSG00000143341	19194		60	1.295		HGNC	p.L1199I		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185964036,C,A&fts=all		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		L/I		A	low	3824/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=1171&re=1258&var=L1199I					YES	HMCN1,missense_variant,p.Leu1199Ile,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Leu1199Ile,ENST00000367492,;HMCN1,downstream_gene_variant,,ENST00000485744,;							MODERATE	3595/16908	L1199I	HMCN1_HUMAN			Transcript		benign(0.174)	.	ENSP00000271588		CCDS30956.1			1	
HMGXB3	0	LGGM	GRCh37	5	149390172	149390172	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	30	6	.	.	ENST00000502717.1:c.810+1G>T		p.X270_splice	ENST00000502717	NM_014983.2			0	1	1	UPI00001C1E29	0		ENST00000502717		ENSG00000113716	28982		36			HGNC	-		HMGXB3		SNV							ENST00000503427	protein_coding							T		-/4974				Q6P442_HUMAN			YES	HMGXB3,splice_donor_variant,,ENST00000503427,;HMGXB3,splice_donor_variant,,ENST00000502717,NM_014983.2;AC011406.2,downstream_gene_variant,,ENST00000512440,;							HIGH	810/3879		HMGX3_HUMAN			Transcript			.	ENSP00000421917		CCDS54935.1			1	
SCN1A	0	LGGM	GRCh37	2	166929996	166929996	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	133	6	.	.	ENST00000303395.4:c.136G>A	p.Glu46Lys	p.E46K	ENST00000303395		46	Gaa/Aaa	0	1	1	UPI000003C71D	0	NA	ENST00000303395		ENSG00000144285	10585		139	2.335		HGNC	p.E46K	rs769582667,COSM1325785,COSM1325784,COSM3569122	SCN1A	0.000303	SNV			1			0,1,1,1	ENST00000409050	protein_coding	getma.org/?cm=var&var=hg19,2,166929996,C,T&fts=all		Low_complexity_(Seg):seg		E/K		T	medium	136/8112	1.50E-05	getma.org/?cm=msa&ty=f&p=SCN1A_HUMAN&rb=1&re=155&var=E46K	tolerated(0.07)	F8T7W7_HUMAN			YES	SCN1A,missense_variant,p.Glu46Lys,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Glu46Lys,ENST00000303395,;SCN1A,missense_variant,p.Glu46Lys,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,missense_variant,p.Glu46Lys,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;SCN1A,non_coding_transcript_exon_variant,,ENST00000507401,;					0,1,1,1		MODERATE	136/6030	E46K	SCN1A_HUMAN			Transcript		benign(0.225)	.	ENSP00000303540	4.94E-05	CCDS54413.1			1	
ECHDC3	0	LGGM	GRCh37	10	11791542	11791542	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072525	H072525N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	34	6	.	.	ENST00000379215.4:c.341A>G	p.Glu114Gly	p.E114G	ENST00000379215	NM_024693.4	114	gAg/gGg	0	1	1	UPI00001F8B44	0	getma.org/pdb.php?prot=ECHD3_HUMAN&from=50&to=293&var=E114G	ENST00000379215		ENSG00000134463	23489		40	-0.365		HGNC	p.E114G		ECHDC3		SNV							ENST00000379215	protein_coding	getma.org/?cm=var&var=hg19,10,11791542,A,G&fts=all		Gene3D:3.90.226.10,Pfam_domain:PF00378,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF28,Superfamily_domains:SSF52096		E/G		G	neutral	552/1649		getma.org/?cm=msa&ty=f&p=ECHD3_HUMAN&rb=50&re=293&var=E114G	tolerated(0.34)	Q5W0J6_HUMAN			YES	ECHDC3,missense_variant,p.Glu114Gly,ENST00000379215,NM_024693.4;ECHDC3,missense_variant,p.Glu167Gly,ENST00000420401,;ECHDC3,missense_variant,p.Glu41Gly,ENST00000422887,;ECHDC3,non_coding_transcript_exon_variant,,ENST00000496136,;ECHDC3,non_coding_transcript_exon_variant,,ENST00000495787,;							MODERATE	341/912	E114G	ECHD3_HUMAN			Transcript		benign(0.003)	.	ENSP00000368517		CCDS7084.1			1	
NSD1	0	LGGM	GRCh37	5	176709489	176709489	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	95	6	.	.	ENST00000439151.2:c.5916G>T	p.Val1972=	p.V1972=	ENST00000439151	NM_022455.4	1972	gtG/gtT	0	1	1	UPI000006F9C6	0		ENST00000439151		ENSG00000165671	14234		101			HGNC	p.V1703V		NSD1		SNV			1				ENST00000354179	protein_coding			Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312,SMART_domains:SM00317,Superfamily_domains:SSF82199		V		T		5961/12892				Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,synonymous_variant,p.=,ENST00000439151,NM_022455.4;NSD1,synonymous_variant,p.=,ENST00000361032,;NSD1,synonymous_variant,p.=,ENST00000354179,NM_172349.2;NSD1,synonymous_variant,p.=,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000503056,;							LOW	5916/8091		NSD1_HUMAN			Transcript			.	ENSP00000395929		CCDS4412.1			1	
IL22	0	LGGM	GRCh37	12	68647128	68647128	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	17	6	.	.	ENST00000538666.1:c.101C>T	p.Ala34Val	p.A34V	ENST00000538666		34	gCg/gTg	0	1		UPI0000034E46	0	NA	ENST00000328087		ENSG00000127318	14900		23	0.055		HGNC	p.A34V	COSM3464473	IL22		SNV						1	ENST00000538666	protein_coding	getma.org/?cm=var&var=hg19,12,68647128,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14263:SF2,hmmpanther:PTHR14263,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF037726,Prints_domain:PR01936		A/V		A	neutral	154/1147		getma.org/?cm=msa&ty=f&p=IL22_HUMAN&rb=1&re=178&var=A34V	tolerated(0.54)					IL22,missense_variant,p.Ala34Val,ENST00000538666,;IL22,missense_variant,p.Ala34Val,ENST00000328087,NM_020525.4;					1		MODERATE	101/540	A34V	IL22_HUMAN			Transcript		benign(0.002)	.	ENSP00000329384		CCDS8982.1			1	
FGFBP1	0	LGGM	GRCh37	4	15937756	15937756	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072525	H072525N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	31	6	.	.	ENST00000382333.1:c.500A>C	p.Glu167Ala	p.E167A	ENST00000382333	NM_005130.4	167	gAg/gCg	0	1	1	UPI000004A926	0	NA	ENST00000382333		ENSG00000137440	19695		37	1.59		HGNC	p.E167A		FGFBP1		SNV							ENST00000382333	protein_coding	getma.org/?cm=var&var=hg19,4,15937756,T,G&fts=all		hmmpanther:PTHR15258:SF2,hmmpanther:PTHR15258,Pfam_domain:PF06473		E/A		G	low	795/1359		getma.org/?cm=msa&ty=f&p=FGFP1_HUMAN&rb=6&re=231&var=E167A	tolerated(0.11)				YES	FGFBP1,missense_variant,p.Glu167Ala,ENST00000382333,NM_005130.4;FGFBP1,missense_variant,p.Glu167Ala,ENST00000259988,;							MODERATE	500/705	E167A	FGFP1_HUMAN			Transcript		benign(0.222)	.	ENSP00000371770		CCDS3418.1			1	
OR2L8	0	LGGM	GRCh37	1	248112724	248112724	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072525	H072525N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	29	7	.	.	ENST00000357191.3:c.565A>G	p.Met189Val	p.M189V	ENST00000357191	NM_001001963.1	189	Atg/Gtg	0	1	1	UPI0000061E5D	0	NA	ENST00000357191		ENSG00000196936	15014		36	-0.305		HGNC	p.M189V		OR2L8		SNV							ENST00000357191	protein_coding	getma.org/?cm=var&var=hg19,1,248112724,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		M/V		G	neutral	565/939		getma.org/?cm=msa&ty=f&p=OR2L8_HUMAN&rb=138&re=282&var=M189V	tolerated(0.56)				YES	OR2L8,missense_variant,p.Met189Val,ENST00000357191,NM_001001963.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	565/939	M189V	OR2L8_HUMAN			Transcript		benign(0.005)	.	ENSP00000349719		CCDS31101.1			1	
WDR3	0	LGGM	GRCh37	1	118477200	118477200	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	67	8	.	.	ENST00000349139.5:c.276C>T	p.Phe92=	p.F92=	ENST00000349139	NM_006784.2	92	ttC/ttT	0	1	1	UPI0000138EDC	0		ENST00000349139		ENSG00000065183	12755		75			HGNC	p.F92F		WDR3		SNV							ENST00000349139	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978		F		T		323/9974				Q5TDG3_HUMAN,B3KMW5_HUMAN			YES	WDR3,synonymous_variant,p.=,ENST00000349139,NM_006784.2;WDR3,3_prime_UTR_variant,,ENST00000369441,;GDAP2,upstream_gene_variant,,ENST00000369443,NM_017686.3;GDAP2,upstream_gene_variant,,ENST00000369442,NM_001135589.1;WDR3,non_coding_transcript_exon_variant,,ENST00000471680,;WDR3,non_coding_transcript_exon_variant,,ENST00000487202,;							LOW	276/2832		WDR3_HUMAN			Transcript			.	ENSP00000308179		CCDS898.1			1	
ATG2A	0	LGGM	GRCh37	11	64679682	64679682	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	16	8	.	.	ENST00000377264.3:c.962C>T	p.Pro321Leu	p.P321L	ENST00000377264	NM_015104.2	321	cCg/cTg	0	1	1	UPI00001C1F21	0	NA	ENST00000377264		ENSG00000110046	29028		24	1.905		HGNC	p.P321L	rs751226427	ATG2A		SNV							ENST00000421419	protein_coding	getma.org/?cm=var&var=hg19,11,64679682,G,A&fts=all		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF18		P/L		A	medium	1075/6357	1.51E-05	getma.org/?cm=msa&ty=f&p=ATG2A_HUMAN&rb=132&re=331&var=P321L	deleterious(0)	B4DV45_HUMAN			YES	ATG2A,missense_variant,p.Pro321Leu,ENST00000421419,;ATG2A,missense_variant,p.Pro321Leu,ENST00000377264,NM_015104.2;ATG2A,missense_variant,p.Pro123Leu,ENST00000418259,;ATG2A,downstream_gene_variant,,ENST00000461701,;ATG2A,downstream_gene_variant,,ENST00000461955,;							MODERATE	962/5817	P321L	ATG2A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366475	8.24E-06	CCDS31602.1			1	
BRINP3	0	LGGM	GRCh37	1	190130016	190130016	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072525	H072525N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	59	12	.	.	ENST00000367462.3:c.966A>T	p.Glu322Asp	p.E322D	ENST00000367462	NM_199051.1	322	gaA/gaT	0	1	1	UPI00001C1D9A	0	NA	ENST00000367462		ENSG00000162670	22393		71	1.59		HGNC	p.E322D		BRINP3		SNV							ENST00000367462	protein_coding	getma.org/?cm=var&var=hg19,1,190130016,T,A&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		E/D		A	low	1198/2889		getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=200&re=399&var=E322D	deleterious(0.05)				YES	BRINP3,missense_variant,p.Glu322Asp,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.Glu220Asp,ENST00000534846,;							MODERATE	966/2301	E322D	BRNP3_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000356432		CCDS1373.1			1	
PML	0	LGGM	GRCh37	15	74336671	74336671	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	42	15	.	.	ENST00000268058.3:c.1971G>A	p.Val657=	p.V657=	ENST00000268058	NM_033238.2	657	gtG/gtA	0	1	1	UPI000013D78F	0		ENST00000268058		ENSG00000140464	9113		57			HGNC	p.V657V		PML		SNV			1				ENST00000268058	protein_coding					V		A		2067/4508				Q9UE85_HUMAN,Q05835_HUMAN			YES	PML,synonymous_variant,p.=,ENST00000565898,;PML,synonymous_variant,p.=,ENST00000268058,NM_033238.2;PML,downstream_gene_variant,,ENST00000395135,NM_002675.3;PML,downstream_gene_variant,,ENST00000569965,;PML,downstream_gene_variant,,ENST00000564428,NM_033249.2;PML,downstream_gene_variant,,ENST00000359928,NM_033246.2;PML,downstream_gene_variant,,ENST00000565317,;							LOW	1971/2649		PML_HUMAN			Transcript			.	ENSP00000268058		CCDS10255.1			1	
EAF1	0	LGGM	GRCh37	3	15478059	15478059	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	27	16	.	.	ENST00000396842.2:c.737G>A	p.Ser246Asn	p.S246N	ENST00000396842	NM_033083.6	246	aGc/aAc	0	1	1	UPI000004B29F	0	NA	ENST00000396842		ENSG00000144597	20907		43	0		HGNC	p.S145N		EAF1		SNV							ENST00000432764	protein_coding	getma.org/?cm=var&var=hg19,3,15478059,G,A&fts=all		hmmpanther:PTHR15970:SF8,hmmpanther:PTHR15970		S/N		A	neutral	1162/4690		getma.org/?cm=msa&ty=f&p=EAF1_HUMAN&rb=116&re=268&var=S246N	tolerated(0.15)				YES	EAF1,missense_variant,p.Ser246Asn,ENST00000396842,NM_033083.6;EAF1,missense_variant,p.Ser145Asn,ENST00000432764,;METTL6,intron_variant,,ENST00000598878,;RNU6-1024P,upstream_gene_variant,,ENST00000384199,;EAF1-AS1,non_coding_transcript_exon_variant,,ENST00000597949,;EAF1-AS1,downstream_gene_variant,,ENST00000609310,;EAF1-AS1,downstream_gene_variant,,ENST00000595627,;EAF1-AS1,downstream_gene_variant,,ENST00000608780,;EAF1-AS1,downstream_gene_variant,,ENST00000595975,;EAF1-AS1,downstream_gene_variant,,ENST00000596371,;EAF1-AS1,downstream_gene_variant,,ENST00000593876,;EAF1-AS1,downstream_gene_variant,,ENST00000599742,;EAF1-AS1,downstream_gene_variant,,ENST00000494875,;EAF1-AS1,downstream_gene_variant,,ENST00000594820,;EAF1-AS1,downstream_gene_variant,,ENST00000610011,;EAF1,3_prime_UTR_variant,,ENST00000449565,;							MODERATE	737/807	S246N	EAF1_HUMAN			Transcript		benign(0.001)	.	ENSP00000380054		CCDS2626.1			1	
ASB17	0	LGGM	GRCh37	1	76397910	76397910	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072525	H072525N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	32	17	.	.	ENST00000284142.6:c.67C>T	p.Leu23Phe	p.L23F	ENST00000284142	NM_080868.2	23	Ctt/Ttt	0	1	1	UPI0000073CD7	0	NA	ENST00000284142		ENSG00000154007	19769		49	0		HGNC	p.L23F		ASB17		SNV							ENST00000284142	protein_coding	getma.org/?cm=var&var=hg19,1,76397910,G,A&fts=all		hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2		L/F		A	neutral	207/1107		getma.org/?cm=msa&ty=f&p=ASB17_HUMAN&rb=1&re=129&var=L23F	deleterious_low_confidence(0.01)				YES	ASB17,missense_variant,p.Leu23Phe,ENST00000284142,NM_080868.2;							MODERATE	67/888	L23F	ASB17_HUMAN			Transcript		benign(0.01)	.	ENSP00000284142		CCDS671.1			1	
RBM26	0	LGGM	GRCh37	13	79908506	79908506	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072525	H072525N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	28	19	.	.	ENST00000267229.7:c.2712A>G	p.Thr904=	p.T904=	ENST00000267229	NM_022118.3	904	acA/acG	0	1		UPI0000D61A89	0		ENST00000438737		ENSG00000139746	20327		47			HGNC	p.T907T	rs758692423	RBM26	6.20E-05	SNV							ENST00000438724	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF13893,PROSITE_profiles:PS50102,hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF2,SMART_domains:SM00360,Superfamily_domains:SSF54928		T		C		3234/4132								RBM26,synonymous_variant,p.=,ENST00000438737,NM_001286631.1;RBM26,synonymous_variant,p.=,ENST00000449987,;RBM26,synonymous_variant,p.=,ENST00000267229,NM_022118.3;RBM26,synonymous_variant,p.=,ENST00000438724,NM_001286632.1;							LOW	2793/3024		RBM26_HUMAN			Transcript			.	ENSP00000387531	8.24E-06				1	
CALCRL	0	LGGM	GRCh37	2	188216880	188216880	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	20	26	.	.	ENST00000409998.1:c.1089G>A	p.Glu363=	p.E363=	ENST00000409998		363	gaG/gaA	0	1		UPI000013D4CD	0		ENST00000392370		ENSG00000064989	16709		46			HGNC	p.E363E		CALCRL		SNV							ENST00000392370	protein_coding			PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR01350		E		T		1803/5155				E7EN01_HUMAN,B8ZZJ4_HUMAN				CALCRL,synonymous_variant,p.=,ENST00000409998,;CALCRL,synonymous_variant,p.=,ENST00000392370,NM_005795.5;CALCRL,synonymous_variant,p.=,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;							LOW	1089/1386		CALRL_HUMAN			Transcript			.	ENSP00000376177		CCDS2293.1			1	
MBL2	0	LGGM	GRCh37	10	54529049	54529049	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	38	28	.	.	ENST00000373968.3:c.331G>C	p.Glu111Gln	p.E111Q	ENST00000373968	NM_000242.2	111	Gaa/Caa	0	1	1	UPI0000035011	0	getma.org/pdb.php?prot=MBL2_HUMAN&from=105&to=143&var=E111Q	ENST00000373968		ENSG00000165471	6922		66	0.765		HGNC	p.E111Q		MBL2		SNV			1				ENST00000373968	protein_coding	getma.org/?cm=var&var=hg19,10,54529049,C,G&fts=all		hmmpanther:PTHR24020,hmmpanther:PTHR24020:SF2,Superfamily_domains:SSF57944		E/Q		G	neutral	396/3569		getma.org/?cm=msa&ty=f&p=MBL2_HUMAN&rb=105&re=143&var=E111Q	deleterious(0.02)	Q9HCS8_HUMAN,Q5SQS3_HUMAN,B1PN75_HUMAN			YES	MBL2,missense_variant,p.Glu111Gln,ENST00000373968,NM_000242.2;							MODERATE	331/747	E111Q	MBL2_HUMAN			Transcript		benign(0.051)	.	ENSP00000363079		CCDS7247.1			1	
SIPA1L1	0	LGGM	GRCh37	14	72054823	72054823	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072525	H072525N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	44	36	.	.	ENST00000555818.1:c.234A>T	p.Ala78=	p.A78=	ENST00000555818	NM_015556.1	78	gcA/gcT	0	1	1	UPI00000443CB	0		ENST00000555818		ENSG00000197555	20284		80			HGNC	p.A78A		SIPA1L1		SNV							ENST00000358550	protein_coding			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10		A		T		582/7831				G3V4Z3_HUMAN			YES	SIPA1L1,synonymous_variant,p.=,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,synonymous_variant,p.=,ENST00000358550,NM_001284246.1;SIPA1L1,synonymous_variant,p.=,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;							LOW	234/5415		SI1L1_HUMAN			Transcript			.	ENSP00000450832		CCDS9807.1			1	
MUC16	0	LGGM	GRCh37	19	9062818	9062818	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072525	H072525N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	56	37	.	.	ENST00000397910.4:c.24628A>G	p.Thr8210Ala	p.T8210A	ENST00000397910	NM_024690.2	8210	Aca/Gca	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		93	0.695		HGNC	p.T8210A		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9062818,T,C&fts=all				T/A		C	neutral	24832/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=8120&re=8294&var=T8212A		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Thr8210Ala,ENST00000397910,NM_024690.2;							MODERATE	24628/43524	T8212A				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
STARD9	0	LGGM	GRCh37	15	42977369	42977369	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	54	45	.	.	ENST00000290607.7:c.3593C>T	p.Thr1198Ile	p.T1198I	ENST00000290607	NM_020759.2	1198	aCt/aTt	0	1	1	UPI0001BE8155	0	NA	ENST00000290607		ENSG00000159433	19162		99	1.525		HGNC	p.T1198I		STARD9		SNV							ENST00000290607	protein_coding	getma.org/?cm=var&var=hg19,15,42977369,C,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF323		T/I		T	low	3650/15567		getma.org/?cm=msa&ty=f&p=STAR9_HUMAN&rb=762&re=3238&var=T1198I		B4DMS6_HUMAN			YES	STARD9,missense_variant,p.Thr1198Ile,ENST00000290607,NM_020759.2;STARD9,downstream_gene_variant,,ENST00000569419,;STARD9,upstream_gene_variant,,ENST00000562619,;STARD9,downstream_gene_variant,,ENST00000562139,;							MODERATE	3593/14103	T1198I	STAR9_HUMAN			Transcript		benign(0.217)	.	ENSP00000290607		CCDS53935.1			1	
ASCC3	0	LGGM	GRCh37	6	100957908	100957908	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072525	H072525N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072525N.bam, H072525T.bam	Illumina HiSeq	166	76	.	.	ENST00000369162.2:c.6361G>C	p.Glu2121Gln	p.E2121Q	ENST00000369162	NM_006828.2	2121	Gaa/Caa	0	1	1	UPI000014145A	0	getma.org/pdb.php?prot=ASCC3_HUMAN&from=1812&to=2176&var=E2121Q	ENST00000369162		ENSG00000112249	18697		242	1.355		HGNC	p.E2121Q		ASCC3		SNV							ENST00000369162	protein_coding	getma.org/?cm=var&var=hg19,6,100957908,C,G&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF02889,SMART_domains:SM00611,SMART_domains:SM00973,Superfamily_domains:SSF81296		E/Q		G	low	6706/8146		getma.org/?cm=msa&ty=f&p=ASCC3_HUMAN&rb=1812&re=2176&var=E2121Q	deleterious(0.02)	E5RFZ0_HUMAN			YES	ASCC3,missense_variant,p.Glu2121Gln,ENST00000369162,NM_006828.2;ASCC3,non_coding_transcript_exon_variant,,ENST00000518006,;							MODERATE	6361/6609	E2121Q	ASCC3_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000358159		CCDS5046.1			1	
UBXN1	0	LGGM	GRCh37	11	62446338	62446338	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	8	2	.	.	ENST00000294119.2:c.58G>T	p.Ala20Ser	p.A20S	ENST00000294119	NM_015853.3	20	Gcg/Tcg	0	1		UPI0000073CEA	0	getma.org/pdb.php?prot=UBXN1_HUMAN&from=3&to=39&var=A20S	ENST00000301935		ENSG00000162191	18402		10	1.895		HGNC	p.A20S		UBXN1		SNV							ENST00000529640	protein_coding	getma.org/?cm=var&var=hg19,11,62446338,C,A&fts=all		Superfamily_domains:SSF46934,SMART_domains:SM00165,Gene3D:1.10.8.10,Pfam_domain:PF00627,hmmpanther:PTHR13020,PROSITE_profiles:PS50030		A/S		A	low	225/1153		getma.org/?cm=msa&ty=f&p=UBXN1_HUMAN&rb=3&re=39&var=A20S	deleterious(0.03)	E9PJ81_HUMAN,B4E0P8_HUMAN				UBXN1,missense_variant,p.Ala20Ser,ENST00000294119,NM_015853.3;UBXN1,missense_variant,p.Ala20Ser,ENST00000301935,NM_001286077.1;UBXN1,missense_variant,p.Ala20Ser,ENST00000529640,;UBXN1,missense_variant,p.Ala20Ser,ENST00000534176,;UBXN1,upstream_gene_variant,,ENST00000533000,;UBXN1,splice_region_variant,,ENST00000524762,;UBXN1,upstream_gene_variant,,ENST00000525004,;UBXN1,splice_region_variant,,ENST00000525717,;UBXN1,splice_region_variant,,ENST00000528907,;UBXN1,splice_region_variant,,ENST00000526919,;UBXN1,splice_region_variant,,ENST00000533908,;UBXN1,splice_region_variant,,ENST00000436354,;UBXN1,splice_region_variant,,ENST00000531056,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000527421,;UBXN1,non_coding_transcript_exon_variant,,ENST00000531625,;							MODERATE	58/894	A20S	UBXN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000303991		CCDS66105.1			1	
ASCL1	0	LGGM	GRCh37	12	103352597	103352597	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	32	3	.	.	ENST00000266744.3:c.575C>A	p.Thr192Asn	p.T192N	ENST00000266744	NM_004316.3	192	aCc/aAc	0	1	1	UPI0000047FC7	0	NA	ENST00000266744		ENSG00000139352	738		35	1.245		HGNC	p.T192N		ASCL1		SNV			1				ENST00000266744	protein_coding	getma.org/?cm=var&var=hg19,12,103352597,C,A&fts=all		hmmpanther:PTHR13935:SF40,hmmpanther:PTHR13935,Superfamily_domains:SSF47459		T/N		A	low	1134/2472		getma.org/?cm=msa&ty=f&p=ASCL1_HUMAN&rb=172&re=236&var=T192N	tolerated(0.09)				YES	ASCL1,missense_variant,p.Thr192Asn,ENST00000266744,NM_004316.3;PAH,upstream_gene_variant,,ENST00000551337,;PAH,upstream_gene_variant,,ENST00000547319,;							MODERATE	575/711	T192N	ASCL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000266744		CCDS31886.1			1	
SCNN1D	0	LGGM	GRCh37	1	1226861	1226861	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	6	3	.	.	ENST00000379116.5:c.2280C>T	p.Gly760=	p.G760=	ENST00000379116	NM_001130413.3	760	ggC/ggT	0	1		UPI000013E180	0		ENST00000338555		ENSG00000162572	10601		9			HGNC	p.G596G	rs370279585	SCNN1D	0.00013	SNV				0.000373			ENST00000400928	protein_coding		T:0.0008	hmmpanther:PTHR11690:SF132,hmmpanther:PTHR11690,TIGRFAM_domain:TIGR00859		G		T		2932/3475	3.41E-05				T:0	T:0		SCNN1D,synonymous_variant,p.=,ENST00000338555,;SCNN1D,synonymous_variant,p.=,ENST00000379116,NM_001130413.3;SCNN1D,synonymous_variant,p.=,ENST00000325425,;SCNN1D,synonymous_variant,p.=,ENST00000400928,;ACAP3,downstream_gene_variant,,ENST00000354700,NM_030649.2;ACAP3,downstream_gene_variant,,ENST00000353662,;SCNN1D,downstream_gene_variant,,ENST00000379099,;ACAP3,downstream_gene_variant,,ENST00000379037,;ACAP3,downstream_gene_variant,,ENST00000492936,;ACAP3,downstream_gene_variant,,ENST00000467278,;SCNN1D,downstream_gene_variant,,ENST00000379101,;ACAP3,downstream_gene_variant,,ENST00000476572,;ACAP3,downstream_gene_variant,,ENST00000470659,;		T:0.0002					LOW	1788/1917		SCNND_HUMAN		T:0	Transcript			.	ENSP00000339504	5.83E-05			T:0	1	
UGGT2	0	LGGM	GRCh37	13	96536888	96536888	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	35	3	.	.	ENST00000376747.3:c.3085G>T	p.Asp1029Tyr	p.D1029Y	ENST00000376747	NM_020121.3	1029	Gac/Tac	0	1	1	UPI00001FC9AA	0	NA	ENST00000376747		ENSG00000102595	15664		38	1.67		HGNC	p.D1029Y		UGGT2		SNV							ENST00000376747	protein_coding	getma.org/?cm=var&var=hg19,13,96536888,C,A&fts=all		Pfam_domain:PF06427,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1		D/Y		A	low	3156/4832		getma.org/?cm=msa&ty=f&p=UGGG2_HUMAN&rb=922&re=1128&var=D1029Y	deleterious(0.01)				YES	UGGT2,missense_variant,p.Asp1029Tyr,ENST00000376747,NM_020121.3;UGGT2,non_coding_transcript_exon_variant,,ENST00000491509,;UGGT2,non_coding_transcript_exon_variant,,ENST00000463054,;							MODERATE	3085/4551	D1029Y	UGGG2_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000365938		CCDS9480.1			1	
SLC13A1	0	LGGM	GRCh37	7	122809232	122809232	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	30	3	.	.	ENST00000194130.2:c.523G>T	p.Gly175Ter	p.G175*	ENST00000194130	NM_022444.3	175	Gga/Tga	0	1	1	UPI0000049F9D	0	NA	ENST00000194130		ENSG00000081800	10916		33	0		HGNC	p.G111X		SLC13A1		SNV							ENST00000539873	protein_coding	getma.org/?cm=var&var=hg19,7,122809232,C,A&fts=all		hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF65,Pfam_domain:PF00939		G/*		A	NA	563/3815		NA		Q75MH3_HUMAN,Q75LT0_HUMAN,A4D0X1_HUMAN			YES	SLC13A1,stop_gained,p.Gly175Ter,ENST00000194130,NM_022444.3;SLC13A1,stop_gained,p.Gly111Ter,ENST00000539873,;SLC13A1,3_prime_UTR_variant,,ENST00000427975,;SLC13A1,3_prime_UTR_variant,,ENST00000439260,;							HIGH	523/1788	G175*	S13A1_HUMAN			Transcript			.	ENSP00000194130		CCDS5786.1			1	
KIAA1731	0	LGGM	GRCh37	11	93432070	93432070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	46	3	.	.	ENST00000325212.6:c.3992C>A	p.Pro1331Gln	p.P1331Q	ENST00000325212		1331	cCa/cAa	0	1	1	UPI0000251F0E	0	NA	ENST00000325212		ENSG00000166004	29366		49	1.905		HGNC	p.P1331Q		KIAA1731		SNV							ENST00000411936	protein_coding	getma.org/?cm=var&var=hg19,11,93432070,C,A&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22		P/Q		A	medium	4154/8055		getma.org/?cm=msa&ty=f&p=K1731_HUMAN&rb=372&re=2599&var=P1331Q	tolerated(0.1)	E9PM20_HUMAN			YES	KIAA1731,missense_variant,p.Pro1331Gln,ENST00000325212,;KIAA1731,missense_variant,p.Pro1331Gln,ENST00000411936,NM_033395.1;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;KIAA1731,intron_variant,,ENST00000531700,;KIAA1731,upstream_gene_variant,,ENST00000530425,;KIAA1731,downstream_gene_variant,,ENST00000531877,;KIAA1731,downstream_gene_variant,,ENST00000531622,;							MODERATE	3992/7806	P1331Q	K1731_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000316681		CCDS44708.1			1	
SORCS2	0	LGGM	GRCh37	4	7705071	7705071	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	39	3	.	.	ENST00000507866.2:c.1733A>G	p.Asp578Gly	p.D578G	ENST00000507866	NM_020777.2	578	gAc/gGc	0	1	1	UPI0000EE6E4F	0	getma.org/pdb.php?prot=SORC2_HUMAN&from=45&to=783&var=D578G	ENST00000507866		ENSG00000184985	16698		42	2.28		HGNC	p.D578G		SORCS2		SNV							ENST00000507866	protein_coding	getma.org/?cm=var&var=hg19,4,7705071,A,G&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296		D/G		G	medium	1842/6152		getma.org/?cm=msa&ty=f&p=SORC2_HUMAN&rb=45&re=783&var=D578G	tolerated(0.07)				YES	SORCS2,missense_variant,p.Asp578Gly,ENST00000507866,NM_020777.2;SORCS2,missense_variant,p.Asp406Gly,ENST00000329016,;							MODERATE	1733/3480	D578G	SORC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000422185		CCDS47008.1			1	
UBE2R2	0	LGGM	GRCh37	9	33917210	33917210	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	27	3	.	.	ENST00000263228.3:c.692A>C	p.Asp231Ala	p.D231A	ENST00000263228	NM_017811.3	231	gAt/gCt	0	1	1	UPI0000000C64	0	NA	ENST00000263228		ENSG00000107341	19907		30	2.305		HGNC	p.D231A		UBE2R2		SNV							ENST00000263228	protein_coding	getma.org/?cm=var&var=hg19,9,33917210,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24067:SF96,hmmpanther:PTHR24067		D/A		C	medium	883/4075		getma.org/?cm=msa&ty=f&p=UB2R2_HUMAN&rb=170&re=238&var=D231A	deleterious(0)				YES	UBE2R2,missense_variant,p.Asp231Ala,ENST00000263228,NM_017811.3;UBAP2,downstream_gene_variant,,ENST00000379238,;UBAP2,downstream_gene_variant,,ENST00000360802,NM_018449.2;UBAP2,downstream_gene_variant,,ENST00000449054,;UBAP2,downstream_gene_variant,,ENST00000379239,NM_001282529.1;UBAP2,downstream_gene_variant,,ENST00000379235,;							MODERATE	692/717	D231A	UB2R2_HUMAN			Transcript		unknown(0)	.	ENSP00000263228		CCDS6546.1			1	
ZNF766	0	LGGM	GRCh37	19	52786666	52786666	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	32	3	.	.	ENST00000439461.1:c.274G>C	p.Gly92Arg	p.G92R	ENST00000439461	NM_001010851.2	92	Ggg/Cgg	0	1	1	UPI0000202AF7	0	NA	ENST00000439461		ENSG00000196214	28063		35	-0.345		HGNC	p.G107R		ZNF766		SNV							ENST00000359102	protein_coding	getma.org/?cm=var&var=hg19,19,52786666,G,C&fts=all		hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF5		G/R		C	neutral	317/2975		getma.org/?cm=msa&ty=f&p=ZN766_HUMAN&rb=50&re=228&var=G92R	tolerated(0.53)	M0R1P9_HUMAN,M0R139_HUMAN,M0QXI4_HUMAN			YES	ZNF766,missense_variant,p.Gly92Arg,ENST00000439461,NM_001010851.2;ZNF766,missense_variant,p.Gly107Arg,ENST00000593612,;ZNF766,missense_variant,p.Gly107Arg,ENST00000359102,;ZNF766,missense_variant,p.Asp92His,ENST00000599581,;ZNF766,missense_variant,p.Asp87His,ENST00000600821,;ZNF766,missense_variant,p.Gly55Arg,ENST00000595000,;ZNF766,missense_variant,p.Gly33Arg,ENST00000593703,;ZNF766,missense_variant,p.Gly55Arg,ENST00000595149,;ZNF766,downstream_gene_variant,,ENST00000601711,;MIR643,downstream_gene_variant,,ENST00000385267,;CTD-2525I3.5,downstream_gene_variant,,ENST00000594865,;ZNF766,downstream_gene_variant,,ENST00000600016,;							MODERATE	274/1407	G92R	ZN766_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000409652		CCDS46163.1			1	
LACTB	0	LGGM	GRCh37	15	63433874	63433874	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	31	3	.	.	ENST00000261893.4:c.1514C>A	p.Thr505Lys	p.T505K	ENST00000261893	NM_032857.3	505	aCa/aAa	0	1	1	UPI000013D220	0	NA	ENST00000261893		ENSG00000103642	16468		34	1.5		HGNC	p.T505K		LACTB		SNV							ENST00000261893	protein_coding	getma.org/?cm=var&var=hg19,15,63433874,C,A&fts=all		Gene3D:3.40.710.10,Pfam_domain:PF00144,hmmpanther:PTHR22935,hmmpanther:PTHR22935:SF64		T/K		A	low	1586/1972		getma.org/?cm=msa&ty=f&p=LACTB_HUMAN&rb=277&re=538&var=T505K	tolerated(1)	H0YNN5_HUMAN			YES	LACTB,missense_variant,p.Thr505Lys,ENST00000261893,NM_032857.3;RPS27L,intron_variant,,ENST00000559763,;LACTB,downstream_gene_variant,,ENST00000559782,;							MODERATE	1514/1644	T505K	LACTB_HUMAN			Transcript		benign(0.102)	.	ENSP00000261893		CCDS10182.1			1	
COL20A1	0	LGGM	GRCh37	20	61945480	61945480	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	16	4	.	.	ENST00000358894.6:c.2415G>A	p.Thr805=	p.T805=	ENST00000358894	NM_020882.2	805	acG/acA	0	1	1	UPI000051910D	0		ENST00000358894		ENSG00000101203	14670		20			HGNC	p.T805T	rs377014520	COL20A1		SNV	A:0						ENST00000326996	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265		T	A:0.0001	A		2515/4172	6.08E-05						YES	COL20A1,synonymous_variant,p.=,ENST00000422202,;COL20A1,synonymous_variant,p.=,ENST00000326996,;COL20A1,synonymous_variant,p.=,ENST00000435874,;COL20A1,synonymous_variant,p.=,ENST00000358894,NM_020882.2;COL20A1,upstream_gene_variant,,ENST00000415763,;COL20A1,non_coding_transcript_exon_variant,,ENST00000479501,;							LOW	2415/3855		COKA1_HUMAN			Transcript			.	ENSP00000351767	2.48E-05	CCDS46628.1			1	
PTPRM	0	LGGM	GRCh37	18	8244151	8244151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	66	4	.	.	ENST00000580170.1:c.2396G>A	p.Gly799Asp	p.G799D	ENST00000580170	NM_001105244.1	799	gGc/gAc	0	1		UPI00002019A9	0	NA	ENST00000332175		ENSG00000173482	9675		70	1.79		HGNC	p.G799D	COSM3403692,COSM3403693	PTPRM		SNV						1,1	ENST00000332175	protein_coding	getma.org/?cm=var&var=hg19,18,8244151,G,A&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206		G/D		A	low	3433/6095		getma.org/?cm=msa&ty=f&p=PTPRM_HUMAN&rb=776&re=922&var=G799D	deleterious(0.02)	Q49AC9_HUMAN,E7EPS8_HUMAN				PTPRM,missense_variant,p.Gly799Asp,ENST00000332175,NM_002845.3;PTPRM,missense_variant,p.Gly799Asp,ENST00000580170,NM_001105244.1;PTPRM,missense_variant,p.Gly737Asp,ENST00000400053,;PTPRM,missense_variant,p.Gly586Asp,ENST00000444013,;PTPRM,missense_variant,p.Gly799Asp,ENST00000400060,;PTPRM,missense_variant,p.Gly152Asp,ENST00000577468,;PTPRM,non_coding_transcript_exon_variant,,ENST00000578093,;PTPRM,upstream_gene_variant,,ENST00000580838,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;					1,1		MODERATE	2396/4359	G799D	PTPRM_HUMAN			Transcript		benign(0.147)	.	ENSP00000331418		CCDS11840.1			1	
CDKN2AIPNL	0	LGGM	GRCh37	5	133738610	133738610	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	26	4	.	.	ENST00000458198.2:c.347G>A	p.Ser116Asn	p.S116N	ENST00000458198	NM_080656.2	116	aGc/aAc	0	1	1	UPI000006DC9D	0	NA	ENST00000458198		ENSG00000237190	30545		30	0		HGNC	p.S116N		CDKN2AIPNL		SNV							ENST00000458198	protein_coding	getma.org/?cm=var&var=hg19,5,133738610,C,T&fts=all		hmmpanther:PTHR16148		S/N		T	neutral	391/1223		getma.org/?cm=msa&ty=f&p=C2AIL_HUMAN&rb=86&re=116&var=S116N	tolerated_low_confidence(0.2)				YES	CDKN2AIPNL,missense_variant,p.Ser116Asn,ENST00000458198,NM_080656.2;RP11-215P8.3,downstream_gene_variant,,ENST00000503470,;							MODERATE	347/351	S116N	C2AIL_HUMAN			Transcript		benign(0.003)	.	ENSP00000394183		CCDS4175.1			1	
MSTO1	0	LGGM	GRCh37	1	155583555	155583555	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	37	4	.	.	ENST00000245564.2:c.1496C>A	p.Ala499Glu	p.A499E	ENST00000245564	NM_018116.3	499	gCa/gAa	0	1	1	UPI000006F52F	0	NA	ENST00000245564		ENSG00000125459	29678		41	1.04		HGNC	p.A499E		MSTO1		SNV							ENST00000245564	protein_coding	getma.org/?cm=var&var=hg19,1,155583555,C,A&fts=all		hmmpanther:PTHR13391		A/E		A	low	1520/2431		getma.org/?cm=msa&ty=f&p=MSTO1_HUMAN&rb=303&re=502&var=A499E	tolerated(0.09)	D3DV95_HUMAN			YES	MSTO1,missense_variant,p.Ala499Glu,ENST00000245564,NM_018116.3,NM_001256532.1,NM_001256533.1;MSTO1,missense_variant,p.Ala76Glu,ENST00000462250,;MSTO1,intron_variant,,ENST00000368341,;MSTO1,intron_variant,,ENST00000452804,;MSTO1,intron_variant,,ENST00000538143,;RP11-29H23.4,upstream_gene_variant,,ENST00000456382,;MSTO1,splice_region_variant,,ENST00000483734,;MSTO1,splice_region_variant,,ENST00000466815,;MSTO1,splice_region_variant,,ENST00000475253,;MSTO1,downstream_gene_variant,,ENST00000488901,;MSTO1,downstream_gene_variant,,ENST00000491308,;MSTO1,downstream_gene_variant,,ENST00000465137,;MSTO1,downstream_gene_variant,,ENST00000473327,;MSTO1,downstream_gene_variant,,ENST00000483832,;MSTO1,downstream_gene_variant,,ENST00000490642,;MSTO1,splice_region_variant,,ENST00000494995,;MSTO1,splice_region_variant,,ENST00000490743,;MSTO1,downstream_gene_variant,,ENST00000478756,;MSTO1,downstream_gene_variant,,ENST00000460199,;MSTO1,downstream_gene_variant,,ENST00000482284,;MSTO1,downstream_gene_variant,,ENST00000471209,;MSTO2P,intron_variant,,ENST00000538914,;RP11-29H23.5,downstream_gene_variant,,ENST00000500626,;							MODERATE	1496/1713	A499E	MSTO1_HUMAN			Transcript		benign(0.008)	.	ENSP00000245564		CCDS1114.1			1	
PITPNB	0	LGGM	GRCh37	22	28290578	28290578	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	35	4	.	.	ENST00000335272.5:c.421A>G	p.Ile141Val	p.I141V	ENST00000335272	NM_012399.3	141	Ata/Gta	0	1	1	UPI0000043C3A	0	getma.org/pdb.php?prot=PIPNB_HUMAN&from=2&to=254&var=I141V	ENST00000335272		ENSG00000180957	9002		39	2.09		HGNC	p.I141V	rs761417512	PITPNB		SNV				9.67E-05			ENST00000335272	protein_coding	getma.org/?cm=var&var=hg19,22,28290578,T,C&fts=all		hmmpanther:PTHR10658,Pfam_domain:PF02121,Gene3D:3.30.530.20,Superfamily_domains:SSF55961		I/V		C	medium	498/2926		getma.org/?cm=msa&ty=f&p=PIPNB_HUMAN&rb=2&re=254&var=I141V	tolerated(0.07)	B3KYB6_HUMAN			YES	PITPNB,missense_variant,p.Ile141Val,ENST00000335272,NM_012399.3;PITPNB,missense_variant,p.Ile143Val,ENST00000455418,NM_001284278.1;PITPNB,missense_variant,p.Ile141Val,ENST00000320996,NM_001284277.1;PITPNB,missense_variant,p.Ile68Val,ENST00000415296,;PITPNB,missense_variant,p.Ile143Val,ENST00000436663,;PITPNB,non_coding_transcript_exon_variant,,ENST00000477861,;PITPNB,non_coding_transcript_exon_variant,,ENST00000465179,;PITPNB,downstream_gene_variant,,ENST00000460566,;							MODERATE	421/816	I141V	PIPNB_HUMAN			Transcript		benign(0.035)	.	ENSP00000334738	8.24E-06	CCDS13842.1			1	
NOBOX	0	LGGM	GRCh37	7	144098268	144098268	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	17	4	.	.	ENST00000467773.1:c.715C>T	p.Arg239Trp	p.R239W	ENST00000467773	NM_001080413.3	239	Cgg/Tgg	0	1	1	UPI00019B220B	0	NA	ENST00000467773		ENSG00000106410	22448		21	0.345		HGNC	p.R239W	rs373867875	NOBOX	6.42E-05	SNV	A:0.0003		1	0.000317			ENST00000483238	protein_coding	getma.org/?cm=var&var=hg19,7,144098268,G,A&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF282		R/W	A:0.0001	A	neutral	715/2076	4.64E-05	getma.org/?cm=msa&ty=f&p=NOBOX_HUMAN&rb=1&re=258&var=R239W	deleterious(0.01)				YES	NOBOX,missense_variant,p.Arg239Trp,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Arg239Trp,ENST00000483238,;NOBOX,missense_variant,p.Arg154Trp,ENST00000223140,;							MODERATE	715/2076	R239W	NOBOX_HUMAN			Transcript		benign(0.247)	.	ENSP00000419457	5.79E-05				1	
RMDN1	0	LGGM	GRCh37	8	87486566	87486566	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	112	5	.	.	ENST00000406452.3:c.916T>G	p.Leu306Val	p.L306V	ENST00000406452	NM_016033.2	306	Ttg/Gtg	0	1	1	UPI0000073168	0	NA	ENST00000406452		ENSG00000176623	24285		117	3.35		HGNC	p.L306V		RMDN1		SNV							ENST00000406452	protein_coding	getma.org/?cm=var&var=hg19,8,87486566,A,C&fts=all		hmmpanther:PTHR16056		L/V		C	medium	1076/3063		getma.org/?cm=msa&ty=f&p=RMD1_HUMAN&rb=201&re=314&var=L306V	deleterious(0)	E5RGC8_HUMAN			YES	RMDN1,missense_variant,p.Leu306Val,ENST00000406452,NM_016033.2;RMDN1,missense_variant,p.Leu263Val,ENST00000519966,NM_001286707.1;RMDN1,missense_variant,p.Leu276Val,ENST00000430676,NM_001286719.1;RMDN1,missense_variant,p.Leu157Val,ENST00000520719,;RMDN1,intron_variant,,ENST00000523911,;RMDN1,intron_variant,,ENST00000517710,;RMDN1,intron_variant,,ENST00000519789,;RMDN1,intron_variant,,ENST00000519639,;WWP1,intron_variant,,ENST00000520798,;RMDN1,intron_variant,,ENST00000519247,;RMDN1,downstream_gene_variant,,ENST00000522942,;RMDN1,non_coding_transcript_exon_variant,,ENST00000517404,;RMDN1,non_coding_transcript_exon_variant,,ENST00000517821,;RMDN1,downstream_gene_variant,,ENST00000524172,;RMDN1,downstream_gene_variant,,ENST00000518390,;RMDN1,downstream_gene_variant,,ENST00000519145,;							MODERATE	916/945	L306V	RMD1_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000385927		CCDS34918.1			1	
DPRX	0	LGGM	GRCh37	19	54140100	54140100	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	62	5	.	.	ENST00000376650.1:c.434T>A	p.Ile145Asn	p.I145N	ENST00000376650	NM_001012728.1	145	aTt/aAt	0	1	1	UPI00004ED62B	0	NA	ENST00000376650		ENSG00000204595	32166		67	0		HGNC	p.I145N		DPRX		SNV							ENST00000376650	protein_coding	getma.org/?cm=var&var=hg19,19,54140100,T,A&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF299		I/N		A	neutral	485/648		getma.org/?cm=msa&ty=f&p=DPRX_HUMAN&rb=119&re=189&var=I145N	tolerated(0.45)				YES	DPRX,missense_variant,p.Ile145Asn,ENST00000376650,NM_001012728.1;							MODERATE	434/576	I145N	DPRX_HUMAN			Transcript		benign(0.001)	.	ENSP00000365838		CCDS33103.1			1	
SLC25A38	0	LGGM	GRCh37	3	39436039	39436039	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	67	5	.	.	ENST00000273158.4:c.764T>G	p.Ile255Ser	p.I255S	ENST00000273158	NM_017875.2	255	aTt/aGt	0	1	1	UPI0000070F35	0	getma.org/pdb.php?prot=S2538_HUMAN&from=214&to=304&var=I255S	ENST00000273158		ENSG00000144659	26054		72	1.34		HGNC	p.I255S		SLC25A38		SNV			1				ENST00000273158	protein_coding	getma.org/?cm=var&var=hg19,3,39436039,T,G&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF107,PROSITE_profiles:PS50920		I/S		G	low	1141/2123		getma.org/?cm=msa&ty=f&p=S2538_HUMAN&rb=214&re=304&var=I255S	deleterious(0.01)				YES	SLC25A38,missense_variant,p.Ile255Ser,ENST00000273158,NM_017875.2;SLC25A38,downstream_gene_variant,,ENST00000431510,;							MODERATE	764/915	I255S	S2538_HUMAN			Transcript		benign(0.297)	.	ENSP00000273158		CCDS2685.1			1	
UNC13B	0	LGGM	GRCh37	9	35399271	35399271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	32	5	.	.	ENST00000378495.3:c.3941C>A	p.Thr1314Asn	p.T1314N	ENST00000378495	NM_006377.3	1314	aCt/aAt	0	1	1	UPI0000211336	0	getma.org/pdb.php?prot=UN13B_HUMAN&from=1263&to=1405&var=T1314N	ENST00000378495		ENSG00000198722	12566		37	0.51		HGNC	p.T1314N		UNC13B		SNV							ENST00000378496	protein_coding	getma.org/?cm=var&var=hg19,9,35399271,C,A&fts=all		PROSITE_profiles:PS51259,hmmpanther:PTHR10480,Pfam_domain:PF10540		T/N		A	neutral	4163/6303		getma.org/?cm=msa&ty=f&p=UN13B_HUMAN&rb=1263&re=1405&var=T1314N	tolerated(0.26)				YES	UNC13B,missense_variant,p.Thr1314Asn,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Thr1326Asn,ENST00000396787,;UNC13B,missense_variant,p.Thr1314Asn,ENST00000378496,;UNC13B,downstream_gene_variant,,ENST00000481299,;							MODERATE	3941/4776	T1314N	UN13B_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000367756		CCDS6579.1			1	
MYH15	0	LGGM	GRCh37	3	108179190	108179190	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	13	5	.	.	ENST00000273353.3:c.1949G>A	p.Arg650Gln	p.R650Q	ENST00000273353	NM_014981.1	650	cGa/cAa	0	1	1	UPI0000253B6F	0	getma.org/pdb.php?prot=MYH15_HUMAN&from=105&to=778&var=R650Q	ENST00000273353		ENSG00000144821	31073		18	1.775		HGNC	p.R650Q	rs767277272,COSM4112067	MYH15	0.000269	SNV						0,1	ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108179190,C,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/Q		T	low	2006/7074	1.68E-05	getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=105&re=778&var=R650Q	tolerated(0.16)	H9XFA0_HUMAN			YES	MYH15,missense_variant,p.Arg650Gln,ENST00000273353,NM_014981.1;MYH15,non_coding_transcript_exon_variant,,ENST00000495753,;MYH15,upstream_gene_variant,,ENST00000478998,;					0,1		MODERATE	1949/5841	R650Q	MYH15_HUMAN	0.000162		Transcript		benign(0.013)	.	ENSP00000273353	5.80E-05	CCDS43127.1			1	
DENND3	0	LGGM	GRCh37	8	142161938	142161938	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	83	6	.	.	ENST00000262585.2:c.834+2T>C		p.X278_splice	ENST00000262585	NM_014957.2			0	1	1	UPI00003CEFBA	0		ENST00000262585		ENSG00000105339	29134		89			HGNC	-		DENND3		SNV							ENST00000424248	protein_coding							C		-/5438				B3KRG7_HUMAN			YES	DENND3,splice_donor_variant,,ENST00000519811,;DENND3,splice_donor_variant,,ENST00000262585,NM_014957.2;DENND3,splice_donor_variant,,ENST00000424248,;DENND3,splice_donor_variant,,ENST00000518668,;DENND3,downstream_gene_variant,,ENST00000523058,;DENND3,downstream_gene_variant,,ENST00000520986,;DENND3,upstream_gene_variant,,ENST00000521477,;DENND3,downstream_gene_variant,,ENST00000523015,;							HIGH	834/3597		DEND3_HUMAN			Transcript			.	ENSP00000262585		CCDS34947.1			1	
SORCS3	0	LGGM	GRCh37	10	107012614	107012614	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	32	6	.	.	ENST00000369701.3:c.3187C>T	p.Pro1063Ser	p.P1063S	ENST00000369701	NM_014978.1	1063	Ccc/Tcc	0	1	1	UPI0000135CE1	0	NA	ENST00000369701		ENSG00000156395	16699		38	1.525		HGNC	p.P1063S		SORCS3		SNV							ENST00000369701	protein_coding	getma.org/?cm=var&var=hg19,10,107012614,C,T&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10		P/S		T	low	3414/5757		getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=905&re=1104&var=P1063S	tolerated(0.52)	B7Z891_HUMAN			YES	SORCS3,missense_variant,p.Pro1063Ser,ENST00000369701,NM_014978.1;							MODERATE	3187/3669	P1063S	SORC3_HUMAN			Transcript		benign(0.004)	.	ENSP00000358715		CCDS7558.1			1	
IGLV3-25	0	LGGM	GRCh37	22	23029580	23029580	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	53	6	.	.	ENST00000390305.2:c.182C>T	p.Ala61Val	p.A61V	ENST00000390305		61	gCc/gTc	0	1	1	UPI000173A2C9	0		ENST00000390305		ENSG00000211659	5908		59			HGNC	p.A61V	rs368632908	IGLV3-25		SNV							ENST00000390305	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF51,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/V		T		225/380	0.00015		tolerated(0.05)				YES	IGLV3-25,missense_variant,p.Ala61Val,ENST00000390305,;LL22NC03-102D1.16,upstream_gene_variant,,ENST00000418731,;	0.000348						MODERATE	182/337					Transcript		benign(0.047)	.	ENSP00000374840	0.000108				1	
IGLV3-25	0	LGGM	GRCh37	22	23029579	23029579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	52	6	.	.	ENST00000390305.2:c.181G>T	p.Ala61Ser	p.A61S	ENST00000390305		61	Gcc/Tcc	0	1	1	UPI000173A2C9	0		ENST00000390305		ENSG00000211659	5908		58			HGNC	p.A61S	rs375551157	IGLV3-25		SNV							ENST00000390305	IG_V_gene		C:0	Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF51,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/S		T		224/380			tolerated(0.16)		C:0	C:0.001	YES	IGLV3-25,missense_variant,p.Ala61Ser,ENST00000390305,;LL22NC03-102D1.16,upstream_gene_variant,,ENST00000418731,;		C:0.0002					MODERATE	181/337				C:0	Transcript		benign(0.02)	.	ENSP00000374840				C:0	1	
TAPBPL	0	LGGM	GRCh37	12	6567862	6567862	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	37	6	.	.	ENST00000266556.7:c.956T>A	p.Leu319His	p.L319H	ENST00000266556	NM_018009.4	319	cTc/cAc	0	1	1	UPI000013D6F6	0	getma.org/pdb.php?prot=TPSNR_HUMAN&from=311&to=394&var=L319H	ENST00000266556		ENSG00000139192	30683		43	3.945		HGNC	p.L319H	COSM3359893	TAPBPL		SNV						1	ENST00000266556	protein_coding	getma.org/?cm=var&var=hg19,12,6567862,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR23411,hmmpanther:PTHR23411:SF3,SMART_domains:SM00407,Superfamily_domains:SSF48726		L/H		A	high	1121/1741		getma.org/?cm=msa&ty=f&p=TPSNR_HUMAN&rb=311&re=394&var=L319H	deleterious(0)				YES	TAPBPL,missense_variant,p.Leu319His,ENST00000266556,NM_018009.4;VAMP1,downstream_gene_variant,,ENST00000361716,;VAMP1,downstream_gene_variant,,ENST00000400911,NM_016830.2;TAPBPL,downstream_gene_variant,,ENST00000544021,;VAMP1,downstream_gene_variant,,ENST00000535180,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,intron_variant,,ENST00000542160,;VAMP1,downstream_gene_variant,,ENST00000544432,;TAPBPL,upstream_gene_variant,,ENST00000544289,;					1		MODERATE	956/1407	L319H	TPSNR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266556		CCDS8546.1			1	
RUNDC1	0	LGGM	GRCh37	17	41141389	41141389	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	23	6	.	.	ENST00000361677.1:c.689A>T	p.Asp230Val	p.D230V	ENST00000361677	NM_173079.2	230	gAc/gTc	0	1	1	UPI00001AED0E	0	NA	ENST00000361677		ENSG00000198863	25418		29	2.075		HGNC	p.D230V		RUNDC1		SNV							ENST00000361677	protein_coding	getma.org/?cm=var&var=hg19,17,41141389,A,T&fts=all		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF214		D/V		T	medium	701/3828		getma.org/?cm=msa&ty=f&p=RUND1_HUMAN&rb=201&re=400&var=D230V	deleterious(0)				YES	RUNDC1,missense_variant,p.Asp230Val,ENST00000361677,NM_173079.2;RUNDC1,intron_variant,,ENST00000589705,;							MODERATE	689/1842	D230V	RUND1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000354622		CCDS11448.1			1	
MBIP	0	LGGM	GRCh37	14	36783798	36783798	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	17	6	.	.	ENST00000416007.4:c.491C>G	p.Ser164Cys	p.S164C	ENST00000416007	NM_016586.2	164	tCt/tGt	0	1	1	UPI00001FD419	0	NA	ENST00000416007		ENSG00000151332	20427		23	1.845		HGNC	p.S171C		MBIP		SNV							ENST00000396329	protein_coding	getma.org/?cm=var&var=hg19,14,36783798,G,C&fts=all		hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF3		S/C		C	low	579/1642		getma.org/?cm=msa&ty=f&p=MBIP1_HUMAN&rb=1&re=200&var=S164C	deleterious(0)				YES	MBIP,missense_variant,p.Ser164Cys,ENST00000416007,NM_016586.2,NM_001144891.1;MBIP,missense_variant,p.Ser164Cys,ENST00000318473,;MBIP,missense_variant,p.Ser164Cys,ENST00000359527,;MBIP,missense_variant,p.Ser161Cys,ENST00000605579,;MBIP,missense_variant,p.Ser171Cys,ENST00000604336,;MBIP,missense_variant,p.Ser124Cys,ENST00000603139,;MBIP,downstream_gene_variant,,ENST00000604160,;MBIP,upstream_gene_variant,,ENST00000603913,;MBIP,upstream_gene_variant,,ENST00000604768,;							MODERATE	491/1035	S164C	MBIP1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000399718		CCDS9658.1			1	
KCNQ3	0	LGGM	GRCh37	8	133492528	133492528	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	15	6	.	.	ENST00000388996.4:c.252C>T	p.Gly84=	p.G84=	ENST00000388996	NM_004519.3	84	ggC/ggT	0	1	1	UPI00001279F0	0		ENST00000388996		ENSG00000184156	6297		21			HGNC	p.G84G		KCNQ3		SNV			1				ENST00000519445	protein_coding			Prints_domain:PR01462,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF5		G		A		673/11441							YES	KCNQ3,synonymous_variant,p.=,ENST00000388996,NM_004519.3;KCNQ3,synonymous_variant,p.=,ENST00000519445,;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;							LOW	252/2619		KCNQ3_HUMAN			Transcript			.	ENSP00000373648		CCDS34943.1			1	
MYOF	0	LGGM	GRCh37	10	95141107	95141107	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	29	7	.	.	ENST00000359263.4:c.1745C>A	p.Ser582Ter	p.S582*	ENST00000359263	NM_013451.3	582	tCa/tAa	0	1	1	UPI000012FBA1	0	NA	ENST00000359263		ENSG00000138119	3656		36	0		HGNC	p.S582X		MYOF		SNV							ENST00000371501	protein_coding	getma.org/?cm=var&var=hg19,10,95141107,G,T&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38		S/*		T	NA	1745/6719		NA					YES	MYOF,stop_gained,p.Ser582Ter,ENST00000371501,;MYOF,stop_gained,p.Ser582Ter,ENST00000371502,;MYOF,stop_gained,p.Ser582Ter,ENST00000359263,NM_013451.3;MYOF,stop_gained,p.Ser569Ter,ENST00000358334,NM_133337.2;MYOF,upstream_gene_variant,,ENST00000463743,;							HIGH	1745/6186	S582*	MYOF_HUMAN			Transcript			.	ENSP00000352208		CCDS41551.1			1	
SLC25A13	0	LGGM	GRCh37	7	95813721	95813721	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	19	7	.	.	ENST00000416240.2:c.1048A>T	p.Ile350Phe	p.I350F	ENST00000416240	NM_014251.2	350	Atc/Ttc	0	1		UPI0000127BC3	0	getma.org/pdb.php?prot=CMC2_HUMAN&from=326&to=423&var=I349F	ENST00000265631		ENSG00000004864	10983		26	0.74		HGNC	p.I349F		SLC25A13		SNV			1				ENST00000265631	protein_coding	getma.org/?cm=var&var=hg19,7,95813721,T,A&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,Prints_domain:PR00926,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265		I/F		A	neutral	1182/3136		getma.org/?cm=msa&ty=f&p=CMC2_HUMAN&rb=326&re=423&var=I349F	deleterious(0)	Q75KX8_HUMAN				SLC25A13,missense_variant,p.Ile350Phe,ENST00000416240,NM_014251.2,NM_001160210.1;SLC25A13,missense_variant,p.Ile349Phe,ENST00000265631,;SLC25A13,missense_variant,p.Ile241Phe,ENST00000542654,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000490072,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000484495,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000492869,;							MODERATE	1045/2028	I349F	CMC2_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000265631		CCDS5645.1			1	
RUNDC1	0	LGGM	GRCh37	17	41141392	41141392	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	23	8	.	.	ENST00000361677.1:c.692T>G	p.Met231Arg	p.M231R	ENST00000361677	NM_173079.2	231	aTg/aGg	0	1	1	UPI00001AED0E	0	NA	ENST00000361677		ENSG00000198863	25418		31	1.1		HGNC	p.M231R		RUNDC1		SNV							ENST00000361677	protein_coding	getma.org/?cm=var&var=hg19,17,41141392,T,G&fts=all		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF214		M/R		G	low	704/3828		getma.org/?cm=msa&ty=f&p=RUND1_HUMAN&rb=201&re=400&var=M231R	deleterious(0)				YES	RUNDC1,missense_variant,p.Met231Arg,ENST00000361677,NM_173079.2;RUNDC1,intron_variant,,ENST00000589705,;							MODERATE	692/1842	M231R	RUND1_HUMAN			Transcript		benign(0.397)	.	ENSP00000354622		CCDS11448.1			1	
PRKCI	0	LGGM	GRCh37	3	169981197	169981197	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	53	8	.	.	ENST00000295797.4:c.344T>C	p.Met115Thr	p.M115T	ENST00000295797	NM_002740.5	115	aTg/aCg	0	1	1	UPI000020A798	0	NA	ENST00000295797		ENSG00000163558	9404		61	1.845		HGNC	p.M115T		PRKCI		SNV							ENST00000295797	protein_coding	getma.org/?cm=var&var=hg19,3,169981197,T,C&fts=all		PIRSF_domain:PIRSF000554,hmmpanther:PTHR24357:SF60,hmmpanther:PTHR24357		M/T		C	low	649/4950		getma.org/?cm=msa&ty=f&p=KPCI_HUMAN&rb=108&re=140&var=M115T	tolerated(0.24)				YES	PRKCI,missense_variant,p.Met115Thr,ENST00000295797,NM_002740.5;							MODERATE	344/1791	M115T	KPCI_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000295797		CCDS3212.2			1	
KIAA0430	0	LGGM	GRCh37	16	15729686	15729686	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	37	9	.	.	ENST00000396368.3:c.658T>G	p.Ser220Ala	p.S220A	ENST00000396368	NM_001184998.1	220	Tcc/Gcc	0	1	1	UPI00006881BC	0	NA	ENST00000396368		ENSG00000166783	29562		46	1.39		HGNC	p.S220A		KIAA0430		SNV							ENST00000396368	protein_coding	getma.org/?cm=var&var=hg19,16,15729686,A,C&fts=all		hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379		S/A		C	low	865/7743		getma.org/?cm=msa&ty=f&p=MARF1_HUMAN&rb=201&re=400&var=S220A	tolerated_low_confidence(0.15)	F8VRS5_HUMAN			YES	KIAA0430,missense_variant,p.Ser220Ala,ENST00000396368,NM_001184998.1,NM_014647.3,NM_001184999.1;KIAA0430,missense_variant,p.Ser42Ala,ENST00000344181,;KIAA0430,missense_variant,p.Ser220Ala,ENST00000540441,;KIAA0430,missense_variant,p.Ser220Ala,ENST00000551742,;KIAA0430,missense_variant,p.Ser220Ala,ENST00000602337,;KIAA0430,missense_variant,p.Ser220Ala,ENST00000548025,;KIAA0430,downstream_gene_variant,,ENST00000549219,;KIAA0430,missense_variant,p.Ser220Ala,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000548216,;							MODERATE	658/5229	S220A	MARF1_HUMAN			Transcript		benign(0.009)	.	ENSP00000379654		CCDS10562.2			1	
TIGD3	0	LGGM	GRCh37	11	65124485	65124485	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	51	10	.	.	ENST00000309880.5:c.1206G>A	p.Glu402=	p.E402=	ENST00000309880	NM_145719.2	402	gaG/gaA	0	1	1	UPI000013EF51	0		ENST00000309880		ENSG00000173825	18334		61			HGNC	p.E402E		TIGD3		SNV							ENST00000309880	protein_coding			hmmpanther:PTHR19303:SF163,hmmpanther:PTHR19303		E		A		1413/2012							YES	TIGD3,synonymous_variant,p.=,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,;							LOW	1206/1416		TIGD3_HUMAN			Transcript			.	ENSP00000308354		CCDS8101.1			1	
PARVG	0	LGGM	GRCh37	22	44586463	44586463	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	42	10	.	.	ENST00000444313.3:c.421C>A	p.His141Asn	p.H141N	ENST00000444313	NM_022141.6	141	Cac/Aac	0	1		UPI000004470F	0	NA	ENST00000422871		ENSG00000138964	14654		52	2.9		HGNC	p.H141N		PARVG		SNV							ENST00000422871	protein_coding	getma.org/?cm=var&var=hg19,22,44586463,C,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50021,hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF1,Pfam_domain:PF00307,Gene3D:1.10.418.10,Superfamily_domains:SSF47576		H/N		A	medium	845/2148		getma.org/?cm=msa&ty=f&p=PARVG_HUMAN&rb=47&re=151&var=H141N	deleterious(0.01)	B0QYM9_HUMAN				PARVG,missense_variant,p.His141Asn,ENST00000444313,NM_022141.6;PARVG,missense_variant,p.His141Asn,ENST00000422871,NM_001137605.2;PARVG,missense_variant,p.His141Asn,ENST00000415224,;PARVG,downstream_gene_variant,,ENST00000453888,;PARVG,missense_variant,p.His141Asn,ENST00000356909,;PARVG,non_coding_transcript_exon_variant,,ENST00000468564,;PARVG,non_coding_transcript_exon_variant,,ENST00000475485,;PARVG,downstream_gene_variant,,ENST00000471836,;							MODERATE	421/996	H141N	PARVG_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000391453		CCDS14057.1			1	
RNF213	0	LGGM	GRCh37	17	78268517	78268517	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	41	11	.	.	ENST00000582970.1:c.1472-2A>T		p.X491_splice	ENST00000582970	NM_001256071.1			0	1	1	UPI0001D3BDB1	0		ENST00000582970		ENSG00000173821	14539		52			HGNC	-		RNF213		SNV			1				ENST00000508628	protein_coding							T		-/21055				H3BLU6_HUMAN			YES	RNF213,splice_acceptor_variant,,ENST00000582970,NM_001256071.1;RNF213,splice_acceptor_variant,,ENST00000508628,;RNF213,splice_acceptor_variant,,ENST00000319921,NM_020954.3;RNF213,splice_acceptor_variant,,ENST00000456466,;RNF213,splice_acceptor_variant,,ENST00000559070,;RNF213,downstream_gene_variant,,ENST00000573548,;RNF213,upstream_gene_variant,,ENST00000574060,;							HIGH	1472/15624		RN213_HUMAN			Transcript			.	ENSP00000464087		CCDS58606.1			1	
RNF213	0	LGGM	GRCh37	17	78268518	78268518	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	41	11	.	.	ENST00000582970.1:c.1472-1G>T		p.X491_splice	ENST00000582970	NM_001256071.1			0	1	1	UPI0001D3BDB1	0		ENST00000582970		ENSG00000173821	14539		52			HGNC	-		RNF213		SNV			1				ENST00000508628	protein_coding							T		-/21055				H3BLU6_HUMAN			YES	RNF213,splice_acceptor_variant,,ENST00000582970,NM_001256071.1;RNF213,splice_acceptor_variant,,ENST00000508628,;RNF213,splice_acceptor_variant,,ENST00000319921,NM_020954.3;RNF213,splice_acceptor_variant,,ENST00000456466,;RNF213,splice_acceptor_variant,,ENST00000559070,;RNF213,downstream_gene_variant,,ENST00000573548,;RNF213,upstream_gene_variant,,ENST00000574060,;							HIGH	1472/15624		RN213_HUMAN			Transcript			.	ENSP00000464087		CCDS58606.1			1	
SEC23A	0	LGGM	GRCh37	14	39531030	39531030	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	37	11	.	.	ENST00000307712.6:c.1444G>C	p.Val482Leu	p.V482L	ENST00000307712	NM_006364.2	482	Gtg/Ctg	0	1	1	UPI000013EC46	0	getma.org/pdb.php?prot=SC23A_HUMAN&from=401&to=504&var=V482L	ENST00000307712		ENSG00000100934	10701		48	1.055		HGNC	p.V370L		SEC23A		SNV			1				ENST00000554645	protein_coding	getma.org/?cm=var&var=hg19,14,39531030,C,G&fts=all		hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF5,Pfam_domain:PF08033,Gene3D:2nutA01,Superfamily_domains:SSF81995		V/L		G	low	1962/4135		getma.org/?cm=msa&ty=f&p=SC23A_HUMAN&rb=401&re=504&var=V482L	tolerated(0.87)	G3V5K1_HUMAN,G3V3G5_HUMAN,G3V2R6_HUMAN,B3KXI2_HUMAN			YES	SEC23A,missense_variant,p.Val280Leu,ENST00000537403,;SEC23A,missense_variant,p.Val482Leu,ENST00000307712,NM_006364.2;SEC23A,missense_variant,p.Val453Leu,ENST00000545328,;SEC23A,missense_variant,p.Val356Leu,ENST00000536508,;SEC23A,downstream_gene_variant,,ENST00000553925,;							MODERATE	1444/2298	V482L	SC23A_HUMAN			Transcript		benign(0.039)	.	ENSP00000306881		CCDS9668.1			1	
C21orf91	0	LGGM	GRCh37	21	19165838	19165838	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	6	11	.	.	ENST00000284881.4:c.788A>C	p.His263Pro	p.H263P	ENST00000284881	NM_001100420.1	263	cAt/cCt	0	1	1	UPI000004A0E1	0	NA	ENST00000284881		ENSG00000154642	16459		17	1.905		HGNC	p.H263P		C21orf91		SNV							ENST00000284881	protein_coding	getma.org/?cm=var&var=hg19,21,19165838,T,G&fts=all		Pfam_domain:PF06937,hmmpanther:PTHR15961		H/P		G	medium	879/5433		getma.org/?cm=msa&ty=f&p=EURL_HUMAN&rb=1&re=291&var=H263P	deleterious(0)	Q68DA1_HUMAN,E7ETB0_HUMAN			YES	C21orf91,missense_variant,p.His263Pro,ENST00000284881,NM_001100420.1,NM_017447.3;C21orf91,missense_variant,p.His262Pro,ENST00000400559,;C21orf91,3_prime_UTR_variant,,ENST00000400558,NM_001100421.1;C21orf91,downstream_gene_variant,,ENST00000405964,;C21orf91-OT1,upstream_gene_variant,,ENST00000430815,;C21orf91-OT1,upstream_gene_variant,,ENST00000439392,;C21orf91-OT1,upstream_gene_variant,,ENST00000430401,;AL109761.5,non_coding_transcript_exon_variant,,ENST00000428689,;C21orf91,downstream_gene_variant,,ENST00000493464,;							MODERATE	788/894	H263P	EURL_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000284881		CCDS42907.1			1	
RNF145	0	LGGM	GRCh37	5	158621825	158621825	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	68	12	.	.	ENST00000518802.1:c.282C>G	p.Ile94Met	p.I94M	ENST00000518802	NM_001199380.1	94	atC/atG	0	1		UPI00000403E9	0	NA	ENST00000424310		ENSG00000145860	20853		80	1.1		HGNC	p.I81M		RNF145		SNV							ENST00000413445	protein_coding	getma.org/?cm=var&var=hg19,5,158621825,G,C&fts=all		Pfam_domain:PF13705,Transmembrane_helices:TMhelix		I/M		C	low	552/3613		getma.org/?cm=msa&ty=f&p=RN145_HUMAN&rb=7&re=506&var=I64M	deleterious(0.01)	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN				RNF145,missense_variant,p.Ile64Met,ENST00000424310,NM_001199383.1;RNF145,missense_variant,p.Ile64Met,ENST00000519865,NM_001199381.1;RNF145,missense_variant,p.Ile92Met,ENST00000274542,NM_144726.2;RNF145,missense_variant,p.Ile81Met,ENST00000521606,;RNF145,missense_variant,p.Ile94Met,ENST00000518802,NM_001199380.1;RNF145,missense_variant,p.Ile78Met,ENST00000520638,NM_001199382.1;RNF145,non_coding_transcript_exon_variant,,ENST00000520548,;							MODERATE	192/1992	I64M	RN145_HUMAN			Transcript		benign(0.398)	.	ENSP00000409064		CCDS56390.1			1	
ERCC6-PGBD3	0	LGGM	GRCh37	10	50724486	50724486	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	40	12	.	.	ENST00000374127.3:c.675A>G	p.Ile225Met	p.I225M	ENST00000374127	NM_170753.3	225	atA/atG	0	1	1	UPI00001F98BA	0	NA	ENST00000515869		ENSG00000258838	48347		52	2.31		HGNC	p.I225M		ERCC6-PGBD3		SNV							ENST00000374127	protein_coding	getma.org/?cm=var&var=hg19,10,50724486,T,C&fts=all		Pfam_domain:PF13843		I/M		C	medium	2200/3439		getma.org/?cm=msa&ty=f&p=PGBD3_HUMAN&rb=141&re=499&var=I225M	deleterious_low_confidence(0.02)	E7EV46_HUMAN,D6R9X7_HUMAN			YES	ERCC6-PGBD3,missense_variant,p.Ile693Met,ENST00000515869,NM_001277059.1;PGBD3,missense_variant,p.Ile693Met,ENST00000603152,NM_001277058.1;ERCC6-PGBD3,missense_variant,p.Ile693Met,ENST00000447839,;PGBD3,missense_variant,p.Ile225Met,ENST00000374127,NM_170753.3;PGBD3,missense_variant,p.Ile225Met,ENST00000508005,;ERCC6,intron_variant,,ENST00000355832,NM_000124.3;							MODERATE	2079/3186	I225M				Transcript		unknown(0)	.	ENSP00000423550		CCDS60529.1			1	
SLC27A5	0	LGGM	GRCh37	19	59011749	59011749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	22	12	.	.	ENST00000263093.2:c.1425G>T	p.Glu475Asp	p.E475D	ENST00000263093	NM_012254.2	475	gaG/gaT	0	1	1	UPI0000072ECE	0	getma.org/pdb.php?prot=S27A5_HUMAN&from=144&to=582&var=E475D	ENST00000263093		ENSG00000083807	10999		34	1.82		HGNC	p.E475D		SLC27A5		SNV							ENST00000263093	protein_coding	getma.org/?cm=var&var=hg19,19,59011749,C,A&fts=all		Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF99,Superfamily_domains:SSF56801		E/D		A	low	1535/2361		getma.org/?cm=msa&ty=f&p=S27A5_HUMAN&rb=144&re=582&var=E475D	deleterious(0.01)	M0R075_HUMAN			YES	SLC27A5,missense_variant,p.Glu475Asp,ENST00000263093,NM_012254.2;SLC27A5,missense_variant,p.Glu391Asp,ENST00000601355,;SLC27A5,upstream_gene_variant,,ENST00000594786,;SLC27A5,upstream_gene_variant,,ENST00000599700,;SLC27A5,upstream_gene_variant,,ENST00000595851,;SLC27A5,upstream_gene_variant,,ENST00000601997,;SLC27A5,downstream_gene_variant,,ENST00000594683,;							MODERATE	1425/2073	E475D	S27A5_HUMAN			Transcript		benign(0.186)	.	ENSP00000263093		CCDS12983.1			1	
RICTOR	0	LGGM	GRCh37	5	38958606	38958606	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	46	13	.	.	ENST00000357387.3:c.2359C>G	p.Leu787Val	p.L787V	ENST00000357387	NM_152756.3	787	Ctc/Gtc	0	1	1	UPI00003529F3	0	NA	ENST00000357387		ENSG00000164327	28611		59	1.08		HGNC	p.L787V		RICTOR		SNV							ENST00000357387	protein_coding	getma.org/?cm=var&var=hg19,5,38958606,G,C&fts=all		Superfamily_domains:SSF48371,Pfam_domain:PF14663,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298		L/V		C	low	2390/9543		getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=L787V	tolerated(0.07)				YES	RICTOR,missense_variant,p.Leu787Val,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.Leu787Val,ENST00000296782,NM_001285439.1;RICTOR,non_coding_transcript_exon_variant,,ENST00000503698,;RICTOR,downstream_gene_variant,,ENST00000509567,;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;							MODERATE	2359/5127	L787V	RICTR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349959		CCDS34148.1			1	
C7	0	LGGM	GRCh37	5	40981493	40981493	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	48	14	.	.	ENST00000313164.9:c.2351-1G>T		p.X784_splice	ENST00000313164	NM_000587.2			0	1	1	UPI000020CA08	0		ENST00000313164		ENSG00000112936	1346		62			HGNC	-		C7		SNV			1				ENST00000313164	protein_coding							T		-/4257							YES	C7,splice_acceptor_variant,,ENST00000313164,NM_000587.2;C7,downstream_gene_variant,,ENST00000494960,;C7,splice_acceptor_variant,,ENST00000464864,;C7,downstream_gene_variant,,ENST00000513922,;							HIGH	2351/2532		CO7_HUMAN			Transcript			.	ENSP00000322061		CCDS47201.1			1	
SEMA3C	0	LGGM	GRCh37	7	80431998	80431998	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	83	14	.	.	ENST00000265361.3:c.899C>T	p.Thr300Ile	p.T300I	ENST00000265361	NM_006379.3	300	aCa/aTa	0	1	1	UPI000011C137	0	getma.org/pdb.php?prot=SEM3C_HUMAN&from=54&to=495&var=T300I	ENST00000265361		ENSG00000075223	10725		97	2.56		HGNC	p.T152I		SEMA3C		SNV			1				ENST00000536800	protein_coding	getma.org/?cm=var&var=hg19,7,80431998,G,A&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		T/I		A	medium	1461/5174		getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=54&re=495&var=T300I	deleterious(0)	Q75MX0_HUMAN,Q75L25_HUMAN			YES	SEMA3C,missense_variant,p.Thr300Ile,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Thr318Ile,ENST00000544525,;SEMA3C,missense_variant,p.Thr300Ile,ENST00000419255,;SEMA3C,missense_variant,p.Thr152Ile,ENST00000536800,;SEMA3C,upstream_gene_variant,,ENST00000475955,;SEMA3C,3_prime_UTR_variant,,ENST00000458729,;							MODERATE	899/2256	T300I	SEM3C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265361		CCDS5596.1			1	
FFAR2	0	LGGM	GRCh37	19	35940726	35940726	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	21	14	.	.	ENST00000599180.2:c.110G>A	p.Arg37His	p.R37H	ENST00000599180		37	cGc/cAc	0	1		UPI0000050459	0	getma.org/pdb.php?prot=FFAR2_HUMAN&from=8&to=273&var=R37H	ENST00000246549		ENSG00000126262	4501		35	2.72		HGNC	p.R37H	rs369914056	FFAR2		SNV	A:0						ENST00000246549	protein_coding	getma.org/?cm=var&var=hg19,19,35940726,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF8,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R/H	A:0.0002	A	medium	110/2051	7.61E-05	getma.org/?cm=msa&ty=f&p=FFAR2_HUMAN&rb=8&re=273&var=R37H	tolerated(0.08)	C6KYL4_HUMAN				FFAR2,missense_variant,p.Arg37His,ENST00000599180,;FFAR2,missense_variant,p.Arg37His,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;							MODERATE	110/993	R37H	FFAR2_HUMAN	0.000155		Transcript		benign(0.408)	.	ENSP00000246549	4.94E-05	CCDS12461.1			1	
FIG4	0	LGGM	GRCh37	6	110059576	110059576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	33	15	.	.	ENST00000230124.3:c.695G>T	p.Gly232Val	p.G232V	ENST00000230124	NM_014845.5	232	gGt/gTt	0	1	1	UPI000000D9A3	0	getma.org/pdb.php?prot=FIG4_HUMAN&from=92&to=428&var=G232V	ENST00000230124		ENSG00000112367	16873		48	1.77		HGNC	p.G211V		FIG4		SNV			1				ENST00000454215	protein_coding	getma.org/?cm=var&var=hg19,6,110059576,G,T&fts=all		Pfam_domain:PF02383,PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9		G/V		T	low	819/3011		getma.org/?cm=msa&ty=f&p=FIG4_HUMAN&rb=92&re=428&var=G232V	tolerated(0.21)	Q5TCS4_HUMAN,Q5JRV4_HUMAN			YES	FIG4,missense_variant,p.Gly232Val,ENST00000230124,NM_014845.5;FIG4,missense_variant,p.Gly211Val,ENST00000454215,;FIG4,intron_variant,,ENST00000441478,;FIG4,intron_variant,,ENST00000368941,;							MODERATE	695/2724	G232V	FIG4_HUMAN			Transcript		benign(0.039)	.	ENSP00000230124		CCDS5078.1			1	
OR1F1	0	LGGM	GRCh37	16	3254696	3254696	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	41	16	.	.	ENST00000304646.2:c.450G>T	p.Val150=	p.V150=	ENST00000304646	NM_012360.1	150	gtG/gtT	0	1	1	UPI00000015B4	0		ENST00000304646		ENSG00000168124	8194		57			HGNC	p.V150V	rs773419546,COSM1609254	OR1F1		SNV						0,1	ENST00000304646	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF304,hmmpanther:PTHR26451,PROSITE_profiles:PS50262		V		T		450/942	4.50E-05						YES	OR1F1,synonymous_variant,p.=,ENST00000304646,NM_012360.1;AJ003147.9,intron_variant,,ENST00000576468,;					0,1		LOW	450/939		OR1F1_HUMAN			Transcript			.	ENSP00000305424	2.47E-05	CCDS10496.1			1	
STAB2	0	LGGM	GRCh37	12	104136293	104136293	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	47	17	.	.	ENST00000388887.2:c.5992G>T	p.Glu1998Ter	p.E1998*	ENST00000388887	NM_017564.9	1998	Gag/Tag	0	1	1	UPI00001ADDF4	0	NA	ENST00000388887		ENSG00000136011	18629		64	0		HGNC	p.E1998X		STAB2		SNV							ENST00000388887	protein_coding	getma.org/?cm=var&var=hg19,12,104136293,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01248,PROSITE_patterns:PS01186,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00180		E/*		T	NA	6196/8251		NA		H0YIF3_HUMAN			YES	STAB2,stop_gained,p.Glu1998Ter,ENST00000388887,NM_017564.9;RP11-341G23.4,downstream_gene_variant,,ENST00000551299,;							HIGH	5992/7656	E1998*	STAB2_HUMAN			Transcript			.	ENSP00000373539		CCDS31888.1			1	
GPR126	0	LGGM	GRCh37	6	142691366	142691366	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	47	18	.	.	ENST00000367609.3:c.505G>T	p.Val169Leu	p.V169L	ENST00000367609	NM_198569.2	169	Gta/Tta	0	1		UPI000046FFCF	0	getma.org/pdb.php?prot=GP126_HUMAN&from=156&to=348&var=V169L	ENST00000230173		ENSG00000112414	13841		65	1.59		HGNC	p.V169L		GPR126		SNV			1				ENST00000230173	protein_coding	getma.org/?cm=var&var=hg19,6,142691366,G,T&fts=all		hmmpanther:PTHR12011:SF47,hmmpanther:PTHR12011,Pfam_domain:PF00354,Gene3D:2.60.120.200,SMART_domains:SM00159,Superfamily_domains:SSF49899		V/L		T	low	981/7026		getma.org/?cm=msa&ty=f&p=GP126_HUMAN&rb=156&re=348&var=V169L	deleterious(0.04)	F5H2L1_HUMAN				GPR126,missense_variant,p.Val169Leu,ENST00000230173,NM_020455.5;GPR126,missense_variant,p.Val169Leu,ENST00000367609,NM_198569.2;GPR126,missense_variant,p.Val169Leu,ENST00000367608,NM_001032395.2;GPR126,missense_variant,p.Val169Leu,ENST00000296932,NM_001032394.2;GPR126,missense_variant,p.Val168Leu,ENST00000541199,;GPR126,downstream_gene_variant,,ENST00000435011,;GPR126,splice_donor_variant,,ENST00000545477,;GPR126,non_coding_transcript_exon_variant,,ENST00000415128,;							MODERATE	505/3666	V169L	GP126_HUMAN			Transcript		benign(0.088)	.	ENSP00000230173		CCDS47490.1			1	
SRRM2	0	LGGM	GRCh37	16	2807917	2807917	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	74	18	.	.	ENST00000301740.8:c.486A>G	p.Gln162=	p.Q162=	ENST00000301740	NM_016333.3	162	caA/caG	0	1	1	UPI000049DDFC	0		ENST00000301740		ENSG00000167978	16639		92			HGNC	p.Q162Q	rs375437864	SRRM2		SNV	G:0						ENST00000571093	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093		Q	G:0.0001	G		1035/9353	1.50E-05			I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN			YES	SRRM2,synonymous_variant,p.=,ENST00000301740,NM_016333.3;SRRM2,synonymous_variant,p.=,ENST00000576924,;SRRM2,synonymous_variant,p.=,ENST00000571378,;SRRM2,synonymous_variant,p.=,ENST00000575009,;SRRM2,synonymous_variant,p.=,ENST00000576415,;SRRM2,downstream_gene_variant,,ENST00000574340,;SRRM2,non_coding_transcript_exon_variant,,ENST00000575870,;SRRM2,upstream_gene_variant,,ENST00000572278,;SRRM2,non_coding_transcript_exon_variant,,ENST00000576894,;SRRM2,non_coding_transcript_exon_variant,,ENST00000570971,;SRRM2,upstream_gene_variant,,ENST00000572952,;SRRM2,upstream_gene_variant,,ENST00000573498,;SRRM2,upstream_gene_variant,,ENST00000576076,;SRRM2,downstream_gene_variant,,ENST00000575701,;SRRM2,upstream_gene_variant,,ENST00000570655,;SRRM2,upstream_gene_variant,,ENST00000571372,;SRRM2,upstream_gene_variant,,ENST00000573451,;	0.000116						LOW	486/8259		SRRM2_HUMAN			Transcript			.	ENSP00000301740	1.65E-05	CCDS32373.1			1	
MMACHC	0	LGGM	GRCh37	1	45974666	45974666	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	31	18	.	.	ENST00000401061.4:c.628A>T	p.Thr210Ser	p.T210S	ENST00000401061	NM_015506.2	210	Aca/Tca	0	1	1	UPI00001C1D6D	0	getma.org/pdb.php?prot=MMAC_HUMAN&from=1&to=232&var=T210S	ENST00000401061		ENSG00000132763	24525		49	1.1		HGNC	p.T210S		MMACHC		SNV			1				ENST00000401061	protein_coding	getma.org/?cm=var&var=hg19,1,45974666,A,T&fts=all		hmmpanther:PTHR31457		T/S		T	low	908/2981		getma.org/?cm=msa&ty=f&p=MMAC_HUMAN&rb=1&re=232&var=T210S	tolerated(0.32)				YES	MMACHC,missense_variant,p.Thr210Ser,ENST00000401061,NM_015506.2;PRDX1,downstream_gene_variant,,ENST00000262746,NM_181696.2,NM_002574.3;PRDX1,downstream_gene_variant,,ENST00000319248,NM_181697.2;PRDX1,downstream_gene_variant,,ENST00000372079,;MMACHC,upstream_gene_variant,,ENST00000477188,;							MODERATE	628/849	T210S	MMAC_HUMAN			Transcript		benign(0.007)	.	ENSP00000383840		CCDS41324.1			1	
ZNF823	0	LGGM	GRCh37	19	11832970	11832970	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	50	20	.	.	ENST00000341191.6:c.1379A>C	p.Asn460Thr	p.N460T	ENST00000341191	NM_001080493.2	460	aAt/aCt	0	1	1	UPI0000203407	0	getma.org/pdb.php?prot=ZN823_HUMAN&from=457&to=482&var=N460T	ENST00000341191		ENSG00000197933	30936		70	-0.345		HGNC	p.N416T		ZNF823		SNV							ENST00000431998	protein_coding	getma.org/?cm=var&var=hg19,19,11832970,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF27,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/T		G	neutral	1533/2423		getma.org/?cm=msa&ty=f&p=ZN823_HUMAN&rb=437&re=502&var=N460T	tolerated(0.71)	K7EN93_HUMAN,C9J2N8_HUMAN,B7Z8D4_HUMAN			YES	ZNF823,missense_variant,p.Asn460Thr,ENST00000341191,NM_001080493.2;ZNF823,missense_variant,p.Asn278Thr,ENST00000545749,;ZNF823,missense_variant,p.Asn416Thr,ENST00000431998,;ZNF823,downstream_gene_variant,,ENST00000586121,;ZNF823,downstream_gene_variant,,ENST00000440527,;CTC-499B15.6,downstream_gene_variant,,ENST00000586983,;							MODERATE	1379/1833	N460T	ZN823_HUMAN			Transcript		benign(0.088)	.	ENSP00000340683		CCDS45981.1			1	
APOB	0	LGGM	GRCh37	2	21234491	21234491	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	82	22	.	.	ENST00000233242.1:c.5249A>T	p.Lys1750Ile	p.K1750I	ENST00000233242	NM_000384.2	1750	aAa/aTa	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		104	1.995		HGNC	p.K1750I		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21234491,T,A&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		K/I		A	medium	5377/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=1673&re=1872&var=K1750I		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Lys1750Ile,ENST00000233242,NM_000384.2;							MODERATE	5249/13692	K1750I	APOB_HUMAN			Transcript		benign(0.235)	.	ENSP00000233242		CCDS1703.1			1	
AHNAK2	0	LGGM	GRCh37	14	105405856	105405856	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072543	H072543N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	67	22	.	.	ENST00000333244.5:c.15932C>A	p.Pro5311His	p.P5311H	ENST00000333244	NM_138420.2	5311	cCt/cAt	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		89	0		HGNC	p.P5311H		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105405856,G,T&fts=all				P/H		T	neutral	16052/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=5201&re=5400&var=P5311H					YES	AHNAK2,missense_variant,p.Pro5311His,ENST00000333244,NM_138420.2;AHNAK2,missense_variant,p.Pro309His,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							MODERATE	15932/17388	P5311H	AHNK2_HUMAN			Transcript		benign(0.296)	.	ENSP00000353114		CCDS45177.1			1	
CSRP2BP	0	LGGM	GRCh37	20	18142868	18142868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	153	24	.	.	ENST00000435364.3:c.1087C>A	p.Gln363Lys	p.Q363K	ENST00000435364	NM_020536.4	363	Caa/Aaa	0	1	1	UPI000013DB91	0	NA	ENST00000435364		ENSG00000149474	15904		177	0.695		HGNC	p.Q362K		CSRP2BP		SNV							ENST00000377681	protein_coding	getma.org/?cm=var&var=hg19,20,18142868,C,A&fts=all		hmmpanther:PTHR20916,hmmpanther:PTHR20916:SF0		Q/K		A	neutral	1428/3618		getma.org/?cm=msa&ty=f&p=CSR2B_HUMAN&rb=251&re=458&var=Q363K	tolerated(0.16)	D6RAU4_HUMAN			YES	CSRP2BP,missense_variant,p.Gln363Lys,ENST00000435364,NM_020536.4;CSRP2BP,missense_variant,p.Gln362Lys,ENST00000377681,;CSRP2BP,missense_variant,p.Gln235Lys,ENST00000489634,;							MODERATE	1087/2349	Q363K	CSR2B_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000392318		CCDS13133.1			1	
APOB	0	LGGM	GRCh37	2	21234495	21234495	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	83	25	.	.	ENST00000233242.1:c.5245A>C	p.Met1749Leu	p.M1749L	ENST00000233242	NM_000384.2	1749	Atg/Ctg	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		108	1.7		HGNC	p.M1749L		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21234495,T,G&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		M/L		G	low	5373/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=1673&re=1872&var=M1749L		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Met1749Leu,ENST00000233242,NM_000384.2;							MODERATE	5245/13692	M1749L	APOB_HUMAN			Transcript		benign(0.022)	.	ENSP00000233242		CCDS1703.1			1	
ZNF665	0	LGGM	GRCh37	19	53668498	53668498	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	95	27	.	.	ENST00000396424.3:c.1245A>T	p.Ser415=	p.S415=	ENST00000396424	NM_024733.3	415	tcA/tcT	0	1		UPI000013F406	0		ENST00000600412		ENSG00000197497	25885		122			HGNC	p.S350S		ZNF665		SNV							ENST00000600412	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		A		1166/2273								ZNF665,synonymous_variant,p.=,ENST00000600412,;ZNF665,synonymous_variant,p.=,ENST00000396424,NM_024733.3;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;							LOW	1050/1842		ZN665_HUMAN			Transcript			.	ENSP00000469154					1	
C9orf131	0	LGGM	GRCh37	9	35044232	35044232	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072543	H072543N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	105	40	.	.	ENST00000312292.5:c.1606C>T	p.Leu536Phe	p.L536F	ENST00000312292	NM_203299.2	536	Ctc/Ttc	0	1	1	UPI00001605AC	0	NA	ENST00000312292		ENSG00000174038	31418		145	0.805		HGNC	p.L463F		C9orf131		SNV							ENST00000354479	protein_coding	getma.org/?cm=var&var=hg19,9,35044232,C,T&fts=all		hmmpanther:PTHR21777		L/F		T	low	1653/3409		getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=235&re=900&var=L536F	tolerated(0.23)				YES	C9orf131,missense_variant,p.Leu536Phe,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.Leu488Phe,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.Leu463Phe,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,;							MODERATE	1606/3240	L536F	CI131_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000308279		CCDS6572.2			1	
GPR98	0	LGGM	GRCh37	5	90016768	90016768	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	180	45	.	.	ENST00000405460.2:c.9640A>G	p.Ile3214Val	p.I3214V	ENST00000405460	NM_032119.3	3214	Atc/Gtc	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		225	-1.63		HGNC	p.I3214V		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90016768,A,G&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		I/V		G	neutral	9736/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=3049&re=3248&var=I3214V					YES	GPR98,missense_variant,p.Ile3214Val,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ile780Val,ENST00000509621,;							MODERATE	9640/18921	I3214V	GPR98_HUMAN			Transcript		benign(0.029)	.	ENSP00000384582		CCDS47246.1			1	
FRMD4B	0	LGGM	GRCh37	3	69245471	69245471	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072543	H072543N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	137	54	.	.	ENST00000398540.3:c.1169A>T	p.Lys390Met	p.K390M	ENST00000398540	NM_015123.1	390	aAg/aTg	0	1	1	UPI00001C1DF1	0	NA	ENST00000398540		ENSG00000114541	24886		191	1.95		HGNC	p.K390M		FRMD4B		SNV							ENST00000398540	protein_coding	getma.org/?cm=var&var=hg19,3,69245471,T,A&fts=all		hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF16,Superfamily_domains:SSF50729		K/M		A	medium	1253/5060		getma.org/?cm=msa&ty=f&p=FRM4B_HUMAN&rb=336&re=423&var=K390M	deleterious(0)	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN			YES	FRMD4B,missense_variant,p.Lys336Met,ENST00000542259,;FRMD4B,missense_variant,p.Lys390Met,ENST00000398540,NM_015123.1;FRMD4B,missense_variant,p.Lys42Met,ENST00000478263,;FRMD4B,missense_variant,p.Lys101Met,ENST00000462512,;FRMD4B,downstream_gene_variant,,ENST00000489817,;FRMD4B,downstream_gene_variant,,ENST00000470070,;FRMD4B,downstream_gene_variant,,ENST00000483668,;FRMD4B,downstream_gene_variant,,ENST00000487751,;FRMD4B,downstream_gene_variant,,ENST00000497475,;							MODERATE	1169/3105	K390M	FRM4B_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000381549		CCDS46863.1			1	
RYR2	0	LGGM	GRCh37	1	237921010	237921010	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072543	H072543N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072543N.bam, H072543T.bam	Illumina HiSeq	58	63	.	.	ENST00000366574.2:c.11259A>G	p.Pro3753=	p.P3753=	ENST00000366574	NM_001035.2	3753	ccA/ccG	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		121			HGNC	p.P727P		RYR2		SNV			1				ENST00000542288	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		P		G		11576/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	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,;							LOW	11259/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
WDFY4	0	LGGM	GRCh37	10	50189445	50189445	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	13	2	.	.	ENST00000325239.5:c.9410G>T	p.Arg3137Leu	p.R3137L	ENST00000325239	NM_020945.1	3137	cGa/cTa	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		15	1.59		HGNC	p.R3137L		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,50189445,G,T&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		R/L		T	low	9437/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=3101&re=3184&var=R3137L	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Arg3137Leu,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Arg1224Leu,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;MIR4294,downstream_gene_variant,,ENST00000584548,;RP11-523O18.5,intron_variant,,ENST00000428825,;RP11-523O18.1,upstream_gene_variant,,ENST00000422966,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;WDFY4,non_coding_transcript_exon_variant,,ENST00000490507,;WDFY4,downstream_gene_variant,,ENST00000497480,;							MODERATE	9410/9555	R3137L	WDFY4_HUMAN			Transcript		benign(0.144)	.	ENSP00000320563		CCDS44385.1			1	
TACSTD2	0	LGGM	GRCh37	1	59042032	59042032	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	9	2	.	.	ENST00000371225.2:c.797C>A	p.Pro266Gln	p.P266Q	ENST00000371225	NM_002353.2	266	cCg/cAg	0	1	1	UPI000006EBAF	0	NA	ENST00000371225		ENSG00000184292	11530		11	2.415		HGNC	p.P266Q		TACSTD2		SNV			1				ENST00000371225	protein_coding	getma.org/?cm=var&var=hg19,1,59042032,G,T&fts=all		hmmpanther:PTHR14168,hmmpanther:PTHR14168:SF3		P/Q		T	medium	1135/2068		getma.org/?cm=msa&ty=f&p=TACD2_HUMAN&rb=160&re=321&var=P266Q	deleterious(0)				YES	TACSTD2,missense_variant,p.Pro266Gln,ENST00000371225,NM_002353.2;							MODERATE	797/972	P266Q	TACD2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000360269		CCDS609.1			1	
THOC5	0	LGGM	GRCh37	22	29904447	29904447	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	13	3	.	.	ENST00000490103.1:c.2051G>T	p.Ter684LeuextTer14	p.*684Lext*14	ENST00000490103	NM_003678.4	684	tGa/tTa	0	1		UPI000013FD77	0		ENST00000397871		ENSG00000100296	19074		16			HGNC	p.X684L		THOC5		SNV							ENST00000397871	protein_coding					*/L		A		2270/2560				C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN				THOC5,stop_lost,p.Ter684LeuextTer14,ENST00000490103,NM_003678.4;THOC5,stop_lost,p.Ter684LeuextTer14,ENST00000397872,NM_001002878.1;THOC5,stop_lost,p.Ter684LeuextTer14,ENST00000397871,NM_001002879.1;THOC5,stop_lost,p.Ter684LeuextTer14,ENST00000397873,NM_001002877.1;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,non_coding_transcript_exon_variant,,ENST00000472164,;							HIGH	2051/2052		THOC5_HUMAN			Transcript			.	ENSP00000380969		CCDS13859.1			1	
CACTIN	0	LGGM	GRCh37	19	3613202	3613202	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	21	3	.	.	ENST00000429344.2:c.1640T>G	p.Ile547Ser	p.I547S	ENST00000429344	NM_001080543.1	547	aTc/aGc	0	1		UPI00006E2249	0	NA	ENST00000221899		ENSG00000105298	29938		24	2.3		HGNC	p.I547S		CACTIN		SNV							ENST00000429344	protein_coding	getma.org/?cm=var&var=hg19,19,3613202,A,C&fts=all		hmmpanther:PTHR21737:SF6,hmmpanther:PTHR21737		I/S		C	medium	1693/2861		getma.org/?cm=msa&ty=f&p=CS029_HUMAN&rb=459&re=633&var=I547S	tolerated(0.1)	K7EIU6_HUMAN,J3KMW8_HUMAN				CACTIN,missense_variant,p.Ile547Ser,ENST00000429344,NM_001080543.1;CACTIN,missense_variant,p.Ile479Ser,ENST00000221899,;CACTIN,missense_variant,p.Ile547Ser,ENST00000248420,NM_021231.1;CACTIN,missense_variant,p.Ile80Ser,ENST00000592721,;CACTIN,upstream_gene_variant,,ENST00000591726,;CACTIN,downstream_gene_variant,,ENST00000588749,;CACTIN-AS1,non_coding_transcript_exon_variant,,ENST00000592274,;CACTIN,missense_variant,p.Ile547Ser,ENST00000585942,;CACTIN,3_prime_UTR_variant,,ENST00000589321,;CACTIN,non_coding_transcript_exon_variant,,ENST00000587175,;CACTIN,downstream_gene_variant,,ENST00000591978,;							MODERATE	1436/2604	I547S				Transcript		probably_damaging(0.961)	.	ENSP00000221899					1	
GOLGA4	0	LGGM	GRCh37	3	37402736	37402736	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	39	3	.	.	ENST00000356847.4:c.6709-4835T>C		*2237*	ENST00000356847	NM_001172713.1			0	1		UPI000012B8DE	0		ENST00000361924		ENSG00000144674	4427		42			HGNC	p.F2222F		GOLGA4		SNV							ENST00000361924	protein_coding			Superfamily_domains:0044483,Gene3D:1uptF00,hmmpanther:PTHR19327		F		C		7040/7772				A8K3D5_HUMAN				GOLGA4,splice_region_variant,p.=,ENST00000361924,NM_002078.4;GOLGA4,intron_variant,,ENST00000356847,NM_001172713.1;GOLGA4,intron_variant,,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;							LOW	6666/6693		GOGA4_HUMAN			Transcript			.	ENSP00000354486		CCDS2666.1			1	
QSER1	0	LGGM	GRCh37	11	32987941	32987941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	45	3	.	.	ENST00000399302.2:c.4678G>T	p.Ala1560Ser	p.A1560S	ENST00000399302	NM_001076786.1	1560	Gcc/Tcc	0	1	1	UPI0000E467AF	0	NA	ENST00000399302		ENSG00000060749	26154		48	1.845		HGNC	p.A1321S		QSER1		SNV							ENST00000527788	protein_coding	getma.org/?cm=var&var=hg19,11,32987941,G,T&fts=all		Pfam_domain:PF13926,hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2		A/S		T	low	5013/9335		getma.org/?cm=msa&ty=f&p=QSER1_HUMAN&rb=1506&re=1654&var=A1560S	deleterious(0.02)	E9PQD3_HUMAN,B3KWV1_HUMAN			YES	QSER1,missense_variant,p.Ala1560Ser,ENST00000399302,NM_001076786.1;QSER1,missense_variant,p.Ala1321Ser,ENST00000527788,;QSER1,missense_variant,p.Ala581Ser,ENST00000524678,;QSER1,intron_variant,,ENST00000528034,;							MODERATE	4678/5208	A1560S	QSER1_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000382241		CCDS41631.1			1	
PRDM2	0	LGGM	GRCh37	1	14142961	14142961	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	27	3	.	.	ENST00000235372.7:c.5076G>A	p.Ala1692=	p.A1692=	ENST00000235372	NM_012231.4	1692	gcG/gcA	0	1	1	UPI000013C9CD	0		ENST00000235372		ENSG00000116731	9347		30			HGNC	p.R184Q	rs768934134	PRDM2		SNV							ENST00000376048	protein_coding			PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4		A		A		5932/7957	3.00E-05			S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,missense_variant,p.Arg184Gln,ENST00000376048,NM_001135610.1;PRDM2,missense_variant,p.Arg20Gln,ENST00000503842,;PRDM2,missense_variant,p.Arg20Gln,ENST00000505823,;PRDM2,synonymous_variant,p.=,ENST00000235372,NM_012231.4;							LOW	5076/5157		PRDM2_HUMAN			Transcript			.	ENSP00000235372	1.65E-05	CCDS150.1			1	
PAOX	0	LGGM	GRCh37	10	135193586	135193586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	8	3	.	.	ENST00000278060.5:c.265C>A	p.Leu89Met	p.L89M	ENST00000278060	NM_152911.2	89	Ctg/Atg	0	1	1	UPI000000D787	0	NA	ENST00000278060		ENSG00000148832	20837		11	2.28		HGNC	p.L89M		PAOX		SNV							ENST00000356306	protein_coding	getma.org/?cm=var&var=hg19,10,135193586,C,A&fts=all		hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF43,Pfam_domain:PF01593,Superfamily_domains:SSF51905		L/M		A	medium	348/1858		getma.org/?cm=msa&ty=f&p=PAOX_HUMAN&rb=88&re=169&var=L89M	deleterious(0.01)	D3DXI4_HUMAN,B0QZA9_HUMAN			YES	PAOX,missense_variant,p.Leu89Met,ENST00000278060,NM_152911.2;PAOX,missense_variant,p.Leu89Met,ENST00000357296,NM_207128.1;PAOX,missense_variant,p.Leu89Met,ENST00000480071,NM_207127.1;PAOX,intron_variant,,ENST00000368539,;AL360181.1,upstream_gene_variant,,ENST00000597657,;PAOX,non_coding_transcript_exon_variant,,ENST00000368535,;PAOX,non_coding_transcript_exon_variant,,ENST00000528127,;PAOX,missense_variant,p.Leu89Met,ENST00000356306,;PAOX,intron_variant,,ENST00000476834,;PAOX,intron_variant,,ENST00000483211,;PAOX,intron_variant,,ENST00000529585,;							MODERATE	265/1536	L89M	PAOX_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000278060		CCDS7683.1			1	
MFAP3L	0	LGGM	GRCh37	4	170913065	170913065	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	23	3	.	.	ENST00000361618.3:c.694C>T	p.Arg232Cys	p.R232C	ENST00000361618	NM_021647.6	232	Cgc/Tgc	0	1	1	UPI0000073AA1	0	NA	ENST00000361618		ENSG00000198948	29083		26	1.905		HGNC	p.R129C	rs775108319	MFAP3L		SNV							ENST00000393704	protein_coding	getma.org/?cm=var&var=hg19,4,170913065,G,A&fts=all		hmmpanther:PTHR14340,hmmpanther:PTHR14340:SF2		R/C		A	medium	1002/6318	1.50E-05	getma.org/?cm=msa&ty=f&p=MFA3L_HUMAN&rb=148&re=407&var=R232C	deleterious(0)	D6RGZ8_HUMAN,D6RDM6_HUMAN,D6RCF0_HUMAN,D6RCC0_HUMAN,D6RAB5_HUMAN,D6R9L7_HUMAN			YES	MFAP3L,missense_variant,p.Arg232Cys,ENST00000361618,NM_021647.6;MFAP3L,missense_variant,p.Arg129Cys,ENST00000393704,NM_001009554.2;MFAP3L,missense_variant,p.Arg129Cys,ENST00000512698,;MFAP3L,downstream_gene_variant,,ENST00000507601,;MFAP3L,downstream_gene_variant,,ENST00000502832,;RP11-6E9.4,intron_variant,,ENST00000508955,;							MODERATE	694/1230	R232C	MFA3L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354583	8.24E-06	CCDS34103.1			1	
GLI4	0	LGGM	GRCh37	8	144358545	144358545	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	46	3	.	.	ENST00000340042.1:c.702G>T	p.Thr234=	p.T234=	ENST00000340042	NM_138465.3	234	acG/acT	0	1	1	UPI0000070432	0		ENST00000340042		ENSG00000250571	4320		49			HGNC	p.T234T		GLI4		SNV							ENST00000340042	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF122,Superfamily_domains:SSF57667		T		T		787/1341							YES	GLI4,synonymous_variant,p.=,ENST00000340042,NM_138465.3;GLI4,synonymous_variant,p.=,ENST00000523522,;ZFP41,3_prime_UTR_variant,,ENST00000522452,;GLI4,3_prime_UTR_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000520021,;RP13-582O9.5,downstream_gene_variant,,ENST00000523031,;RP13-582O9.5,downstream_gene_variant,,ENST00000517411,;RP13-582O9.5,downstream_gene_variant,,ENST00000524335,;RP13-582O9.5,downstream_gene_variant,,ENST00000521207,;RP13-582O9.5,downstream_gene_variant,,ENST00000518073,;RP13-582O9.5,downstream_gene_variant,,ENST00000519852,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,;							LOW	702/1131		GLI4_HUMAN			Transcript			.	ENSP00000345024		CCDS6398.1			1	
CLCNKB	0	LGGM	GRCh37	1	16376409	16376409	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	34	3	.	.	ENST00000375679.4:c.966C>A	p.Thr322=	p.T322=	ENST00000375679	NM_000085.4	322	acC/acA	0	1	1	UPI000040E261	0		ENST00000375679		ENSG00000184908	2027		37			HGNC	p.T322T		CLCNKB		SNV			1				ENST00000375679	protein_coding			Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340		T		A		1077/2567							YES	CLCNKB,splice_region_variant,p.=,ENST00000375679,NM_000085.4;CLCNKB,splice_region_variant,p.=,ENST00000375667,NM_001165945.2;CLCNKB,upstream_gene_variant,,ENST00000431772,;							LOW	966/2064		CLCKB_HUMAN			Transcript			.	ENSP00000364831		CCDS168.1			1	
BLTP2	0	LGGM	GRCh37	17	26967636	26967636	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	39	3	.	.	ENST00000528896.2:c.832C>A	p.Gln278Lys	p.Q278K	ENST00000528896	NM_014680.3	278	Cag/Aag	0	1	1	UPI00004B4130	0	NA	ENST00000528896		ENSG00000007202	28960		42	0		HGNC	p.Q135K		KIAA0100		SNV							ENST00000544884	protein_coding	getma.org/?cm=var&var=hg19,17,26967636,G,T&fts=all		hmmpanther:PTHR15678,Pfam_domain:PF10344		Q/K		T	neutral	907/7407		getma.org/?cm=msa&ty=f&p=K0100_HUMAN&rb=26&re=476&var=Q278K	tolerated(0.97)	Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,missense_variant,p.Gln278Lys,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Gln135Lys,ENST00000544884,;KIAA0100,missense_variant,p.Gln135Lys,ENST00000389003,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;KIAA0100,missense_variant,p.Pro18Gln,ENST00000581267,;KIAA0100,3_prime_UTR_variant,,ENST00000583403,;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,;							MODERATE	832/6708	Q278K	K0100_HUMAN			Transcript		benign(0)	.	ENSP00000436773		CCDS32595.1			1	
CTCF	0	LGGM	GRCh37	16	67644857	67644857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	41	3	.	.	ENST00000264010.4:c.122C>A	p.Pro41His	p.P41H	ENST00000264010	NM_006565.3	41	cCc/cAc	0	1	1	UPI0000000DDE	0	NA	ENST00000264010		ENSG00000102974	13723		44	0		HGNC	p.P41H		CTCF		SNV			1				ENST00000264010	protein_coding	getma.org/?cm=var&var=hg19,16,67644857,C,A&fts=all				P/H		A	neutral	566/3939		getma.org/?cm=msa&ty=f&p=CTCF_HUMAN&rb=1&re=48&var=P41H	deleterious_low_confidence(0.05)				YES	CTCF,missense_variant,p.Pro41His,ENST00000264010,NM_006565.3;CTCF,intron_variant,,ENST00000401394,NM_001191022.1;AC009095.4,downstream_gene_variant,,ENST00000388909,;CTCF,non_coding_transcript_exon_variant,,ENST00000566078,;							MODERATE	122/2184	P41H	CTCF_HUMAN			Transcript		benign(0.037)	.	ENSP00000264010		CCDS10841.1			1	
STRC	0	LGGM	GRCh37	15	43910187	43910187	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	46	3	.	.	ENST00000450892.2:c.432G>T	p.Leu144=	p.L144=	ENST00000450892	NM_153700.2	144	ctG/ctT	0	1	1	UPI000013E60F	0		ENST00000450892		ENSG00000242866	16035		49			HGNC	p.L144L		STRC		SNV			1				ENST00000450892	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		L		A		510/5680				E7EPM8_HUMAN			YES	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;snoU13,downstream_gene_variant,,ENST00000459277,;STRC,synonymous_variant,p.=,ENST00000428650,;STRC,synonymous_variant,p.=,ENST00000440125,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000483250,;STRC,upstream_gene_variant,,ENST00000470279,;							LOW	432/5328		STRC_HUMAN			Transcript			.	ENSP00000401513		CCDS10098.1			1	
LRP5L	0	LGGM	GRCh37	22	25750663	25750663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	45	3	.	.	ENST00000402859.2:c.555C>A	p.Ser185Arg	p.S185R	ENST00000402859	NM_001135772.1	185	agC/agA	0	1		UPI000006DF62	0	getma.org/pdb.php?prot=LRP5L_HUMAN&from=167&to=252&var=S185R	ENST00000402785		ENSG00000100068	25323		48	2.49		HGNC	p.S185R		LRP5L		SNV							ENST00000402859	protein_coding	getma.org/?cm=var&var=hg19,22,25750663,G,T&fts=all		Superfamily_domains:SSF63825,SMART_domains:SM00135,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		S/R		T	medium	652/1193		getma.org/?cm=msa&ty=f&p=LRP5L_HUMAN&rb=167&re=252&var=S185R	deleterious(0)					LRP5L,missense_variant,p.Ser185Arg,ENST00000444995,;LRP5L,missense_variant,p.Ser185Arg,ENST00000402859,NM_001135772.1;LRP5L,missense_variant,p.Ser185Arg,ENST00000402785,;LRP5L,3_prime_UTR_variant,,ENST00000474163,;LRP5L,non_coding_transcript_exon_variant,,ENST00000467672,;LRP5L,downstream_gene_variant,,ENST00000484509,;CTA-246H3.11,upstream_gene_variant,,ENST00000434827,;							MODERATE	555/759	S185R	LRP5L_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000384562		CCDS33626.1			1	
TMEM184A	0	LGGM	GRCh37	7	1586662	1586663	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC	novel	by Submitter	H072601	H072601N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	6	4	.	.	ENST00000297477.5:c.1167_1168insGGC	p.Pro389_Ser390insGly	p.P389_S390insG	ENST00000297477	NM_001097620.1	389	-/GGC	0	1	1	UPI000013E413	0		ENST00000297477		ENSG00000164855	28797		10			HGNC	p.S390delinsGS	TMP_ESP_7_1586663_1586662,COSM1449635	TMEM184A		insertion	GCC:0.4684					0,1	ENST00000297477	protein_coding			hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20		-/G	GCC:0.4789	GCC		1484-1485/6276				C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN			YES	TMEM184A,inframe_insertion,p.Pro389_Ser390insGly,ENST00000297477,NM_001097620.1;MAFK,downstream_gene_variant,,ENST00000343242,NM_002360.3;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,;MAFK,downstream_gene_variant,,ENST00000403150,;TMEM184A,downstream_gene_variant,,ENST00000474813,;TMEM184A,downstream_gene_variant,,ENST00000421923,;					0,1		MODERATE	1167-1168/1242		T184A_HUMAN			Transcript			.	ENSP00000297477		CCDS43537.1			1	
PARVB	0	LGGM	GRCh37	22	44527463	44527463	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	11	4	.	.	ENST00000406477.3:c.572A>G	p.Asp191Gly	p.D191G	ENST00000406477	NM_001003828.2	191	gAc/gGc	0	1		UPI000013132A	0	NA	ENST00000338758		ENSG00000188677	14653		15	-0.41		HGNC	p.D191G		PARVB		SNV							ENST00000406477	protein_coding	getma.org/?cm=var&var=hg19,22,44527463,A,G&fts=all		PROSITE_profiles:PS50021,hmmpanther:PTHR12114:SF7,hmmpanther:PTHR12114,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576		D/G		G	neutral	536/5429		getma.org/?cm=msa&ty=f&p=PARVB_HUMAN&rb=90&re=194&var=D158G	tolerated(0.36)					PARVB,missense_variant,p.Asp158Gly,ENST00000338758,NM_013327.4;PARVB,missense_variant,p.Asp121Gly,ENST00000404989,NM_001243385.1;PARVB,missense_variant,p.Asp191Gly,ENST00000406477,NM_001003828.2;PARVB,missense_variant,p.Asp156Gly,ENST00000444029,;PARVB,upstream_gene_variant,,ENST00000495824,;							MODERATE	473/1095	D158G	PARVB_HUMAN			Transcript		benign(0)	.	ENSP00000342492		CCDS14056.1			1	
MED13L	0	LGGM	GRCh37	12	116408505	116408505	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	20	4	.	.	ENST00000281928.3:c.5961C>A	p.Thr1987=	p.T1987=	ENST00000281928	NM_015335.4	1987	acC/acA	0	1	1	UPI0000241C1E	0		ENST00000281928		ENSG00000123066	22962		24			HGNC	p.T1987T		MED13L		SNV			1				ENST00000281928	protein_coding			Pfam_domain:PF06333,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21		T		T		6168/9530				Q9H6Z7_HUMAN			YES	MED13L,synonymous_variant,p.=,ENST00000281928,NM_015335.4;MED13L,synonymous_variant,p.=,ENST00000552447,;MED13L,non_coding_transcript_exon_variant,,ENST00000548784,;MED13L,downstream_gene_variant,,ENST00000548694,;							LOW	5961/6633		MD13L_HUMAN			Transcript			.	ENSP00000281928		CCDS9177.1			1	
ZNF446	0	LGGM	GRCh37	19	58991757	58991757	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	7	4	.	.	ENST00000594369.1:c.1017C>T	p.Arg339=	p.R339=	ENST00000594369	NM_017908.2	339	cgC/cgT	0	1	1	UPI0000071779	0		ENST00000594369		ENSG00000083838	21036		11			HGNC	p.A311V	COSM4082443	ZNF446		SNV						1	ENST00000335841	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF73,PROSITE_profiles:PS50157		R		T		1398/2238				Q9UFF2_HUMAN,M0R034_HUMAN			YES	ZNF446,missense_variant,p.Ala311Val,ENST00000335841,;ZNF446,synonymous_variant,p.=,ENST00000596341,;ZNF446,synonymous_variant,p.=,ENST00000594369,NM_017908.2;ZNF446,downstream_gene_variant,,ENST00000600013,;RNU6-1337P,downstream_gene_variant,,ENST00000516525,;CTD-2619J13.23,upstream_gene_variant,,ENST00000598051,;ZNF446,downstream_gene_variant,,ENST00000599913,;SLC27A5,3_prime_UTR_variant,,ENST00000595851,;ZNF446,non_coding_transcript_exon_variant,,ENST00000391694,;ZNF446,downstream_gene_variant,,ENST00000594468,;					1		LOW	1017/1353		ZN446_HUMAN			Transcript			.	ENSP00000472802		CCDS12982.1			1	
TRERF1	0	LGGM	GRCh37	6	42232447	42232447	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	18	5	.	.	ENST00000372922.4:c.1630A>T	p.Lys544Ter	p.K544*	ENST00000372922	NM_033502.2	544	Aaa/Taa	0	1	1	UPI0000052952	0	NA	ENST00000372922		ENSG00000124496	18273		23	0		HGNC	p.K544X		TRERF1		SNV							ENST00000340840	protein_coding	getma.org/?cm=var&var=hg19,6,42232447,T,A&fts=all		hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089		K/*		A	NA	2193/7286		NA					YES	TRERF1,stop_gained,p.Lys544Ter,ENST00000541110,;TRERF1,stop_gained,p.Lys544Ter,ENST00000372917,;TRERF1,stop_gained,p.Lys544Ter,ENST00000372922,NM_033502.2;TRERF1,stop_gained,p.Lys544Ter,ENST00000340840,;TRERF1,stop_gained,p.Lys544Ter,ENST00000354325,;							HIGH	1630/3603	K544*	TREF1_HUMAN			Transcript			.	ENSP00000362013		CCDS4867.1			1	
SCAF8	0	LGGM	GRCh37	6	155129919	155129919	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	24	5	.	.	ENST00000367178.3:c.1213C>A	p.Arg405=	p.R405=	ENST00000367178	NM_014892.3	405	Cga/Aga	0	1	1	UPI0000070A1C	0		ENST00000367178		ENSG00000213079	20959		29			HGNC	p.R471R		SCAF8		SNV							ENST00000367186	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124		R		A		1789/5055				Q9H8B2_HUMAN,Q8NDE9_HUMAN			YES	SCAF8,synonymous_variant,p.=,ENST00000367178,NM_014892.3,NM_001286194.1;SCAF8,synonymous_variant,p.=,ENST00000417268,NM_001286188.1,NM_001286199.1;SCAF8,synonymous_variant,p.=,ENST00000367186,NM_001286189.1;							LOW	1213/3816		SCAF8_HUMAN			Transcript			.	ENSP00000356146		CCDS5247.1			1	
SARDH	0	LGGM	GRCh37	9	136599129	136599129	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	11	5	.	.	ENST00000371872.4:c.167C>G	p.Ala56Gly	p.A56G	ENST00000371872	NM_007101.3	56	gCc/gGc	0	1	1	UPI000006F076	0	NA	ENST00000371872		ENSG00000123453	10536		16	0.55		HGNC	p.A56G		SARDH		SNV			1				ENST00000371872	protein_coding	getma.org/?cm=var&var=hg19,9,136599129,G,C&fts=all		hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF18		A/G		C	neutral	425/3344		getma.org/?cm=msa&ty=f&p=SARDH_HUMAN&rb=1&re=67&var=A56G	tolerated(0.55)	Q5SYV1_HUMAN,B4DPI2_HUMAN			YES	SARDH,missense_variant,p.Ala56Gly,ENST00000371872,NM_007101.3;SARDH,missense_variant,p.Ala56Gly,ENST00000439388,NM_001134707.1;SARDH,missense_variant,p.Ala56Gly,ENST00000427237,;SARDH,missense_variant,p.Ala56Gly,ENST00000298628,;SARDH,5_prime_UTR_variant,,ENST00000371867,;SARDH,intron_variant,,ENST00000422262,;							MODERATE	167/2757	A56G	SARDH_HUMAN			Transcript		benign(0.001)	.	ENSP00000360938		CCDS6978.1			1	
GNAI3	0	LGGM	GRCh37	1	110125169	110125169	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	50	6	.	.	ENST00000369851.4:c.572T>C	p.Phe191Ser	p.F191S	ENST00000369851	NM_006496.3	191	tTc/tCc	0	1	1	UPI000004D205	0	getma.org/pdb.php?prot=GNAI3_HUMAN&from=3&to=354&var=F191S	ENST00000369851		ENSG00000065135	4387		56	2.615		HGNC	p.F191S		GNAI3		SNV			1				ENST00000369851	protein_coding	getma.org/?cm=var&var=hg19,1,110125169,T,C&fts=all		hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF173,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00441		F/S		C	medium	682/3206		getma.org/?cm=msa&ty=f&p=GNAI3_HUMAN&rb=3&re=354&var=F191S	deleterious(0.02)	Q5TZX1_HUMAN,C9J2Z2_HUMAN			YES	GNAI3,missense_variant,p.Phe191Ser,ENST00000369851,NM_006496.3;							MODERATE	572/1065	F191S	GNAI3_HUMAN			Transcript		benign(0.281)	.	ENSP00000358867		CCDS802.1			1	
VASH1	0	LGGM	GRCh37	14	77237534	77237534	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	33	6	.	.	ENST00000167106.4:c.400T>A	p.Tyr134Asn	p.Y134N	ENST00000167106	NM_014909.4	134	Tac/Aac	0	1	1	UPI0000073F7C	0	NA	ENST00000167106		ENSG00000071246	19964		39	2.66		HGNC	p.Y134N		VASH1		SNV							ENST00000554237	protein_coding	getma.org/?cm=var&var=hg19,14,77237534,T,A&fts=all		Pfam_domain:PF14822,hmmpanther:PTHR15750:SF3,hmmpanther:PTHR15750		Y/N		A	medium	1033/5724		getma.org/?cm=msa&ty=f&p=VASH1_HUMAN&rb=44&re=343&var=Y134N	deleterious(0)				YES	VASH1,missense_variant,p.Tyr134Asn,ENST00000167106,NM_014909.4;VASH1,missense_variant,p.Tyr134Asn,ENST00000554237,;RP11-488C13.6,downstream_gene_variant,,ENST00000556368,;VASH1,splice_region_variant,,ENST00000556038,;VASH1,splice_region_variant,,ENST00000553518,;							MODERATE	400/1098	Y134N	VASH1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000167106		CCDS9851.1			1	
FLT4	0	LGGM	GRCh37	5	180030213	180030213	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	8	6	.	.	ENST00000261937.6:c.4071C>A	p.Phe1357Leu	p.F1357L	ENST00000261937	NM_182925.4	1357	ttC/ttA	0	1	1	UPI00001488E7	0	NA	ENST00000261937		ENSG00000037280	3767		14	0.975		HGNC	p.F1357L		FLT4		SNV			1				ENST00000261937	protein_coding	getma.org/?cm=var&var=hg19,5,180030213,G,T&fts=all				F/L		T	low	4150/5857		getma.org/?cm=msa&ty=f&p=VGFR3_HUMAN&rb=1293&re=1363&var=F1357L	tolerated_low_confidence(0.11)	D6RFF2_HUMAN			YES	FLT4,missense_variant,p.Phe1357Leu,ENST00000261937,NM_182925.4;FLT4,downstream_gene_variant,,ENST00000393347,NM_002020.4;FLT4,downstream_gene_variant,,ENST00000502649,;FLT4,non_coding_transcript_exon_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000507059,;							MODERATE	4071/4092	F1357L	VGFR3_HUMAN			Transcript		benign(0.015)	.	ENSP00000261937		CCDS4457.1			1	
ITPR2	0	LGGM	GRCh37	12	26703181	26703181	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	23	6	.	.	ENST00000381340.3:c.5072A>C	p.Glu1691Ala	p.E1691A	ENST00000381340	NM_002223.2	1691	gAg/gCg	0	1	1	UPI00001FB7D2	0	NA	ENST00000381340		ENSG00000123104	6181		29	0.895		HGNC	p.E1691A		ITPR2		SNV							ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26703181,T,G&fts=all		hmmpanther:PTHR13715		E/A		G	low	5489/10511		getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=1556&re=1755&var=E1691A	deleterious(0.02)	I1VE21_HUMAN			YES	ITPR2,missense_variant,p.Glu1691Ala,ENST00000381340,NM_002223.2;							MODERATE	5072/8106	E1691A	ITPR2_HUMAN			Transcript		benign(0.044)	.	ENSP00000370744		CCDS41764.1			1	
ITCH	0	LGGM	GRCh37	20	33049994	33049994	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	61	7	.	.	ENST00000262650.6:c.1515C>T	p.Thr505=	p.T505=	ENST00000262650		505	acC/acT	0	1	1	UPI00000731C2	0		ENST00000262650		ENSG00000078747	13890	0.000346	68			HGNC	p.T505T	rs749945829	ITCH		SNV			1				ENST00000262650	protein_coding			Gene3D:2.20.70.10,Pfam_domain:PF00397,PIRSF_domain:PIRSF001569,PROSITE_patterns:PS01159,PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66,SMART_domains:SM00456,Superfamily_domains:SSF51045		T		T		1651/3089							YES	ITCH,synonymous_variant,p.=,ENST00000374864,NM_001257137.1,NM_031483.5,NM_001257138.1;ITCH,synonymous_variant,p.=,ENST00000262650,;ITCH,synonymous_variant,p.=,ENST00000535650,;MIR644A,upstream_gene_variant,,ENST00000385262,;ITCH,non_coding_transcript_exon_variant,,ENST00000483727,;							LOW	1515/2712		ITCH_HUMAN			Transcript			.	ENSP00000262650	3.29E-05	CCDS58768.1			1	
MACF1	0	LGGM	GRCh37	1	39920658	39920658	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	31	7	.	.	ENST00000545844.1:c.14787G>T	p.Leu4929=	p.L4929=	ENST00000545844		4929	ctG/ctT	0	1		UPI0001F78894	0		ENST00000372915		ENSG00000127603	13664		38			HGNC	p.L5431L		MACF1		SNV							ENST00000289893	protein_coding			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966		L		T		20748/23440				Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,synonymous_variant,p.=,ENST00000564288,;MACF1,synonymous_variant,p.=,ENST00000567887,;MACF1,synonymous_variant,p.=,ENST00000372915,;MACF1,synonymous_variant,p.=,ENST00000289893,;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.=,ENST00000372925,;MACF1,synonymous_variant,p.=,ENST00000360115,;MACF1,upstream_gene_variant,,ENST00000446276,;MACF1,upstream_gene_variant,,ENST00000497964,;MACF1,downstream_gene_variant,,ENST00000487656,;							LOW	20661/22167		MACF1_HUMAN			Transcript			.	ENSP00000362006					1	
GRIPAP1	0	LGGM	GRCh37	X	48839645	48839645	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	33	7	.	.	ENST00000376441.1:c.1480G>T	p.Glu494Ter	p.E494*	ENST00000376441	NM_020137.3	494	Gag/Tag	0	1		UPI000035AC77	0	NA	ENST00000376423		ENSG00000068400	18706		40	0		HGNC	p.E494X		GRIPAP1		SNV							ENST00000376441	protein_coding	getma.org/?cm=var&var=hg19,X,48839645,C,A&fts=all		hmmpanther:PTHR18978,hmmpanther:PTHR18978:SF1,Coiled-coils_(Ncoils):Coil		E/*		A	NA	1354/3255		NA						GRIPAP1,stop_gained,p.Glu441Ter,ENST00000376423,NM_207672.1;GRIPAP1,stop_gained,p.Glu494Ter,ENST00000376441,NM_020137.3;GRIPAP1,stop_gained,p.Glu463Ter,ENST00000376425,;GRIPAP1,stop_gained,p.Glu449Ter,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,downstream_gene_variant,,ENST00000474512,;GRIPAP1,upstream_gene_variant,,ENST00000488361,;							HIGH	1321/1878	E494*	GRAP1_HUMAN			Transcript			.	ENSP00000365606					1	
HMMR	0	LGGM	GRCh37	5	162900505	162900505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	42	8	.	.	ENST00000393915.4:c.846A>G	p.Ile282Met	p.I282M	ENST00000393915	NM_001142556.1	282	atA/atG	0	1		UPI000020C09D	0	NA	ENST00000358715		ENSG00000072571	5012		50	0		HGNC	p.I266M		HMMR		SNV							ENST00000353866	protein_coding	getma.org/?cm=var&var=hg19,5,162900505,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18956		I/M		G	neutral	879/2988		getma.org/?cm=msa&ty=f&p=HMMR_HUMAN&rb=71&re=722&var=I281M	tolerated(0.53)	E5RIH2_HUMAN,E5RI30_HUMAN,E3W978_HUMAN,B9UCQ3_HUMAN				HMMR,missense_variant,p.Ile282Met,ENST00000393915,NM_001142556.1,NM_012484.2;HMMR,missense_variant,p.Ile281Met,ENST00000358715,;HMMR,missense_variant,p.Ile266Met,ENST00000353866,NM_012485.2;HMMR,missense_variant,p.Ile195Met,ENST00000432118,NM_001142557.1;HMMR,downstream_gene_variant,,ENST00000520345,;HMMR,downstream_gene_variant,,ENST00000522094,;HMMR,downstream_gene_variant,,ENST00000517936,;							MODERATE	843/2175	I281M	HMMR_HUMAN			Transcript		benign(0.003)	.	ENSP00000351554		CCDS4362.1			1	
COL10A1	0	LGGM	GRCh37	6	116442773	116442773	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	19	8	.	.	ENST00000327673.4:c.506C>A	p.Pro169His	p.P169H	ENST00000327673		169	cCc/cAc	0	1		UPI0000126D28	0	NA	ENST00000243222		ENSG00000123500	2185		27	2.145		HGNC	p.P169H		COL10A1		SNV			1				ENST00000327673	protein_coding	getma.org/?cm=var&var=hg19,6,116442773,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF74		P/H		T	medium	602/3289		getma.org/?cm=msa&ty=f&p=COAA1_HUMAN&rb=155&re=297&var=P169H	tolerated(0.12)	Q5QPC8_HUMAN,Q5QPC7_HUMAN				COL10A1,missense_variant,p.Pro169His,ENST00000327673,;COL10A1,missense_variant,p.Pro169His,ENST00000243222,NM_000493.3;COL10A1,missense_variant,p.Pro169His,ENST00000452729,;NT5DC1,intron_variant,,ENST00000319550,NM_152729.2;NT5DC1,intron_variant,,ENST00000419791,;AL121963.1,intron_variant,,ENST00000430695,;NT5DC1,downstream_gene_variant,,ENST00000417846,;COL10A1,downstream_gene_variant,,ENST00000418500,;NT5DC1,intron_variant,,ENST00000460749,;							MODERATE	506/2043	P169H	COAA1_HUMAN			Transcript		unknown(0)	.	ENSP00000243222		CCDS5105.1			1	
CUBN	0	LGGM	GRCh37	10	17032514	17032514	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	15	8	.	.	ENST00000377833.4:c.4169G>T	p.Gly1390Val	p.G1390V	ENST00000377833	NM_001081.3	1390	gGt/gTt	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=1387&to=1390&var=G1390V	ENST00000377833		ENSG00000107611	2548		23	1.995		HGNC	p.G1390V		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,17032514,C,A&fts=all		Gene3D:2.60.120.290,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,Superfamily_domains:SSF49854		G/V		A	medium	4235/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1357&re=1420&var=G1390V	deleterious(0)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Gly1390Val,ENST00000377833,NM_001081.3;							MODERATE	4169/10872	G1390V	CUBN_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000367064		CCDS7113.1			1	
ZNF133	0	LGGM	GRCh37	20	18297023	18297023	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	19	9	.	.	ENST00000377671.3:c.1525G>T	p.Val509Phe	p.V509F	ENST00000377671	NM_003434.4	509	Gtt/Ttt	0	1		UPI000013CBD0	0	getma.org/pdb.php?prot=ZN133_HUMAN&from=508&to=533&var=V510F	ENST00000316358		ENSG00000125846	12917		28	1.83		HGNC	p.V510F		ZNF133		SNV							ENST00000401790	protein_coding	getma.org/?cm=var&var=hg19,20,18297023,G,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF119,PROSITE_profiles:PS50157		V/F		T	low	1625/2242		getma.org/?cm=msa&ty=f&p=ZN133_HUMAN&rb=488&re=553&var=V510F	deleterious(0.02)	Q5JXW0_HUMAN,Q5JXV9_HUMAN,F5H289_HUMAN				ZNF133,missense_variant,p.Val509Phe,ENST00000377671,NM_003434.4,NM_001282995.1,NM_001083330.2;ZNF133,missense_variant,p.Val510Phe,ENST00000401790,NM_001282997.1;ZNF133,missense_variant,p.Val513Phe,ENST00000396026,NM_001283002.1;ZNF133,missense_variant,p.Val447Phe,ENST00000402618,NM_001283004.1,NM_001283003.1;ZNF133,missense_variant,p.Val510Phe,ENST00000316358,NM_001283008.1,NM_001282999.1,NM_001282998.1,NM_001283001.1,NM_001283000.1;ZNF133,missense_variant,p.Val415Phe,ENST00000535822,NM_001283007.1,NM_001283006.1;ZNF133,missense_variant,p.Val415Phe,ENST00000538547,NM_001283005.1;ZNF133,downstream_gene_variant,,ENST00000425686,;ZNF133,downstream_gene_variant,,ENST00000434018,;ZNF133,downstream_gene_variant,,ENST00000360010,;RP4-568F9.3,upstream_gene_variant,,ENST00000436848,;ZNF133,non_coding_transcript_exon_variant,,ENST00000462170,;							MODERATE	1528/1965	V510F	ZN133_HUMAN			Transcript		benign(0.442)	.	ENSP00000346090		CCDS63234.1			1	
C7orf63	0	LGGM	GRCh37	7	89939521	89939521	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	24	9	.	.	ENST00000389297.4:c.2795T>C	p.Val932Ala	p.V932A	ENST00000389297	NM_001039706.2	932	gTg/gCg	0	1	1	UPI000066DA29	0	NA	ENST00000389297		ENSG00000105792	26107		33	-0.145		HGNC	p.V469A		C7orf63		SNV							ENST00000449577	protein_coding	getma.org/?cm=var&var=hg19,7,89939521,T,C&fts=all		hmmpanther:PTHR14716,hmmpanther:PTHR14716:SF0		V/A		C	neutral	3046/3902		getma.org/?cm=msa&ty=f&p=CG063_HUMAN&rb=7&re=939&var=V932A	tolerated_low_confidence(0.34)	F8WBX7_HUMAN			YES	C7orf63,missense_variant,p.Val932Ala,ENST00000389297,NM_001039706.2,NM_001160138.1;C7orf63,missense_variant,p.Val886Ala,ENST00000316089,;C7orf63,missense_variant,p.Val914Ala,ENST00000497910,;C7orf63,missense_variant,p.Val469Ala,ENST00000449577,;C7orf63,missense_variant,p.Val84Ala,ENST00000445156,;C7orf63,missense_variant,p.Val161Ala,ENST00000412839,;AC002064.5,upstream_gene_variant,,ENST00000445784,;C7orf63,non_coding_transcript_exon_variant,,ENST00000475031,;C7orf63,downstream_gene_variant,,ENST00000427396,;							MODERATE	2795/2826	V932A	CG063_HUMAN			Transcript		benign(0.001)	.	ENSP00000373948		CCDS43613.2			1	
SULF2	0	LGGM	GRCh37	20	46288150	46288150	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	32	9	.	.	ENST00000359930.4:c.2575A>G	p.Lys859Glu	p.K859E	ENST00000359930	NM_018837.3	859	Aaa/Gaa	0	1	1	UPI000003FFBA	0	NA	ENST00000359930		ENSG00000196562	20392		41	1.87		HGNC	p.K859E		SULF2		SNV							ENST00000484875	protein_coding	getma.org/?cm=var&var=hg19,20,46288150,T,C&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,PIRSF_domain:PIRSF036665		K/E		C	low	3427/4915		getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=666&re=865&var=K859E	deleterious_low_confidence(0.03)	Q5BKT1_HUMAN,B1AMP9_HUMAN			YES	SULF2,missense_variant,p.Lys859Glu,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Lys859Glu,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Lys856Glu,ENST00000467815,;SULF2,intron_variant,,ENST00000361612,;SULF2,intron_variant,,ENST00000495544,;NCOA3,downstream_gene_variant,,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,downstream_gene_variant,,ENST00000341724,;NCOA3,downstream_gene_variant,,ENST00000371997,;SULF2,downstream_gene_variant,,ENST00000433632,;SULF2,upstream_gene_variant,,ENST00000479472,;SULF2,non_coding_transcript_exon_variant,,ENST00000479970,;							MODERATE	2575/2613	K859E	SULF2_HUMAN			Transcript		benign(0.146)	.	ENSP00000353007		CCDS13408.1			1	
HNRNPUL1	0	LGGM	GRCh37	19	41787181	41787181	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	21	10	.	.	ENST00000392006.3:c.999+1G>T		p.X333_splice	ENST00000392006	NM_007040.3			0	1	1	UPI000013D3F4	0		ENST00000392006		ENSG00000105323	17011		31			HGNC	-		HNRNPUL1		SNV							ENST00000352456	protein_coding							T		-/3555				M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN			YES	HNRNPUL1,splice_donor_variant,,ENST00000392006,NM_007040.3;HNRNPUL1,splice_donor_variant,,ENST00000352456,NM_144732.2;HNRNPUL1,splice_donor_variant,,ENST00000263367,;HNRNPUL1,splice_donor_variant,,ENST00000602130,;HNRNPUL1,splice_donor_variant,,ENST00000595018,;HNRNPUL1,splice_donor_variant,,ENST00000593587,;HNRNPUL1,splice_donor_variant,,ENST00000599614,;HNRNPUL1,splice_donor_variant,,ENST00000599719,;HNRNPUL1,intron_variant,,ENST00000378215,;HNRNPUL1,downstream_gene_variant,,ENST00000601336,;HNRNPUL1,downstream_gene_variant,,ENST00000597725,;HNRNPUL1,downstream_gene_variant,,ENST00000594207,;HNRNPUL1,splice_donor_variant,,ENST00000595196,;HNRNPUL1,intron_variant,,ENST00000600596,;HNRNPUL1,downstream_gene_variant,,ENST00000600332,;							HIGH	999/2571		HNRL1_HUMAN			Transcript			.	ENSP00000375863		CCDS12576.1			1	
CDKN2A	0	LGGM	GRCh37	9	21971208	21971208	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	3	10	.	.	ENST00000304494.5:c.151-1G>A		p.X51_splice	ENST00000304494	NM_000077.4			0	1		UPI0000047FDA	0		ENST00000304494		ENSG00000147889	1787		13			HGNC	-	COSM13223,COSM127094,COSM127095,COSM3656626	CDKN2A		SNV			1			1,1,1,1	ENST00000361570	protein_coding							T		-/1218				Q9UPB7_HUMAN,K7PML8_HUMAN				CDKN2A,splice_acceptor_variant,,ENST00000579755,;CDKN2A,splice_acceptor_variant,,ENST00000304494,NM_000077.4;CDKN2A,splice_acceptor_variant,,ENST00000361570,NM_058195.3;CDKN2A,splice_acceptor_variant,,ENST00000494262,;CDKN2A,splice_acceptor_variant,,ENST00000498628,;CDKN2A,splice_acceptor_variant,,ENST00000498124,NM_001195132.1;CDKN2A,splice_acceptor_variant,,ENST00000530628,;CDKN2A,splice_acceptor_variant,,ENST00000446177,;CDKN2A,splice_acceptor_variant,,ENST00000579122,;CDKN2A,splice_acceptor_variant,,ENST00000497750,;CDKN2A,splice_acceptor_variant,,ENST00000479692,;CDKN2A,5_prime_UTR_variant,,ENST00000578845,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,splice_acceptor_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;					1,1,1,1		HIGH	151/471		CD2A1_HUMAN			Transcript			.	ENSP00000307101		CCDS6510.1			1	
HMCN2	0	LGGM	GRCh37	9	133061319	133061319	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	24	10	.	.	ENST00000415566.2:c.769T>C	p.Leu257Pro	p.L257P	ENST00000415566		257	cTg/cCg	0	1	1	UPI0002B8331E	0	NA	ENST00000415566		ENSG00000148357	21293		34	1.39		HGNC	p.L306P		HMCN2		SNV							ENST00000415566	protein_coding	getma.org/?cm=var&var=hg19,9,133061319,T,C&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25		L/P		C	low	769/2091		getma.org/?cm=msa&ty=f&p=A2A3K3_HUMAN&rb=292&re=393&var=L306P						HMCN2,missense_variant,p.Leu257Pro,ENST00000415566,;							MODERATE	770/2092	L306P				Transcript		possibly_damaging(0.642)	.	ENSP00000389272					1	
CCDC80	0	LGGM	GRCh37	3	112358736	112358736	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	23	10	.	.	ENST00000206423.3:c.17G>A	p.Gly6Glu	p.G6E	ENST00000206423	NM_199512.1	6	gGa/gAa	0	1	1	UPI000004EE7F	0	NA	ENST00000206423		ENSG00000091986	30649		33	0.205		HGNC	p.G6E		CCDC80		SNV							ENST00000444594	protein_coding	getma.org/?cm=var&var=hg19,3,112358736,C,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM		G/E		T	neutral	971/4664		getma.org/?cm=msa&ty=f&p=CCD80_HUMAN&rb=1&re=139&var=G6E	tolerated_low_confidence(0.41)				YES	CCDC80,missense_variant,p.Gly6Glu,ENST00000206423,NM_199512.1,NM_199511.1;CCDC80,missense_variant,p.Gly6Glu,ENST00000439685,;CCDC80,upstream_gene_variant,,ENST00000461431,;CCDC80,non_coding_transcript_exon_variant,,ENST00000475181,;CCDC80,downstream_gene_variant,,ENST00000480275,;CCDC80,downstream_gene_variant,,ENST00000469554,;CCDC80,downstream_gene_variant,,ENST00000473959,;							MODERATE	17/2853	G6E	CCD80_HUMAN			Transcript		benign(0)	.	ENSP00000206423		CCDS2968.1			1	
SEC24A	0	LGGM	GRCh37	5	134010807	134010807	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	31	10	.	.	ENST00000398844.2:c.1051G>T	p.Val351Phe	p.V351F	ENST00000398844	NM_021982.2	351	Gtc/Ttc	0	1	1	UPI0000185FF9	0	getma.org/pdb.php?prot=SC24A_HUMAN&from=266&to=426&var=V351F	ENST00000398844		ENSG00000113615	10703		41	2.065		HGNC	p.V351F		SEC24A		SNV							ENST00000398844	protein_coding	getma.org/?cm=var&var=hg19,5,134010807,G,T&fts=all		Superfamily_domains:SSF81995,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1		V/F		T	medium	1339/6299		getma.org/?cm=msa&ty=f&p=SC24A_HUMAN&rb=266&re=426&var=V351F	deleterious(0.01)				YES	SEC24A,missense_variant,p.Val351Phe,ENST00000398844,NM_021982.2;SEC24A,missense_variant,p.Val351Phe,ENST00000322887,NM_001252231.1;SEC24A,upstream_gene_variant,,ENST00000513123,;							MODERATE	1051/3282	V351F	SC24A_HUMAN			Transcript		benign(0.081)	.	ENSP00000381823		CCDS43363.1			1	
ZNF655	0	LGGM	GRCh37	7	99170374	99170374	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	15	10	.	.	ENST00000424881.1:c.748G>T	p.Asp250Tyr	p.D250Y	ENST00000424881	NM_001085368.1	250	Gat/Tat	0	1		UPI0000070B32	0	getma.org/pdb.php?prot=ZN655_HUMAN&from=112&to=225&var=D215Y	ENST00000252713		ENSG00000197343	30899		25	2.04		HGNC	p.D250Y		ZNF655		SNV							ENST00000424881	protein_coding	getma.org/?cm=var&var=hg19,7,99170374,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF284,SMART_domains:SM00355,Superfamily_domains:SSF57667		D/Y		T	medium	880/2535		getma.org/?cm=msa&ty=f&p=ZN655_HUMAN&rb=112&re=225&var=D215Y	deleterious(0)	Q68DU4_HUMAN				ZNF655,missense_variant,p.Asp250Tyr,ENST00000424881,NM_001085368.1,NM_001083956.1;ZNF655,missense_variant,p.Asp215Tyr,ENST00000394163,NM_001009960.1,NM_138494.2;ZNF655,missense_variant,p.Asp215Tyr,ENST00000252713,;ZNF655,missense_variant,p.Asp250Tyr,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,;							MODERATE	643/1476	D215Y	ZN655_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000252713		CCDS5669.1			1	
HTR3C	0	LGGM	GRCh37	3	183777242	183777242	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	30	10	.	.	ENST00000318351.1:c.739C>G	p.Pro247Ala	p.P247A	ENST00000318351	NM_130770.2	247	Cca/Gca	0	1	1	UPI00001402D6	0	getma.org/pdb.php?prot=5HT3C_HUMAN&from=43&to=247&var=P247A	ENST00000318351		ENSG00000178084	24003		40	3.395		HGNC	p.P247A		HTR3C		SNV							ENST00000318351	protein_coding	getma.org/?cm=var&var=hg19,3,183777242,C,G&fts=all		hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Pfam_domain:PF02931,Superfamily_domains:0038932,Superfamily_domains:SSF90112,Prints_domain:PR00252		P/A		G	medium	773/1697		getma.org/?cm=msa&ty=f&p=5HT3C_HUMAN&rb=43&re=247&var=P247A	deleterious(0.03)				YES	HTR3C,missense_variant,p.Pro247Ala,ENST00000318351,NM_130770.2;							MODERATE	739/1344	P247A	5HT3C_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000322617		CCDS3250.1			1	
VAV3	0	LGGM	GRCh37	1	108307701	108307701	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072601	H072601N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	36	11	.	.	ENST00000370056.4:c.918A>T	p.Leu306Phe	p.L306F	ENST00000370056	NM_006113.4	306	ttA/ttT	0	1	1	UPI0000138212	0	getma.org/pdb.php?prot=VAV3_HUMAN&from=196&to=370&var=L306F	ENST00000370056		ENSG00000134215	12659		47	2.265		HGNC	p.L241F		VAV3		SNV							ENST00000371846	protein_coding	getma.org/?cm=var&var=hg19,1,108307701,T,A&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF97,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065		L/F		A	medium	1193/4990		getma.org/?cm=msa&ty=f&p=VAV3_HUMAN&rb=196&re=370&var=L306F	deleterious(0)	F5GXH7_HUMAN			YES	VAV3,missense_variant,p.Leu306Phe,ENST00000370056,NM_006113.4;VAV3,missense_variant,p.Leu306Phe,ENST00000527011,;VAV3,missense_variant,p.Leu301Phe,ENST00000490388,;VAV3,missense_variant,p.Leu241Phe,ENST00000371846,;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,;VAV3,non_coding_transcript_exon_variant,,ENST00000469325,;VAV3,downstream_gene_variant,,ENST00000524574,;							MODERATE	918/2544	L306F	VAV3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359073		CCDS785.1			1	
GNAS	0	LGGM	GRCh37	20	57484597	57484597	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	13	11	.	.	ENST00000371085.3:c.681G>T	p.Gln227His	p.Q227H	ENST00000371085	NM_000516.4	227	caG/caT	0	1		UPI0000001247	0	getma.org/pdb.php?prot=GNAS2_HUMAN&from=1&to=394&var=Q227H	ENST00000371085		ENSG00000087460	4392		24	3.695		HGNC	p.Q856H	COSM27900,COSM3371733	GNAS		SNV			1			1,1	ENST00000371102	protein_coding	getma.org/?cm=var&var=hg19,20,57484597,G,T&fts=all		hmmpanther:PTHR10218:SF36,hmmpanther:PTHR10218,Gene3D:3.40.50.300,Pfam_domain:PF00503,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00318		Q/H		T	high	1105/1972		getma.org/?cm=msa&ty=f&p=GNAS2_HUMAN&rb=1&re=394&var=Q227H	deleterious(0)	S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN				GNAS,missense_variant,p.Gln870His,ENST00000371100,NM_001077490.1,NM_080425.2;GNAS,missense_variant,p.Gln856His,ENST00000371102,;GNAS,missense_variant,p.Gln228His,ENST00000354359,NM_001077488.2;GNAS,missense_variant,p.Gln227His,ENST00000371085,NM_000516.4;GNAS,missense_variant,p.Gln213His,ENST00000371095,;GNAS,missense_variant,p.Gln212His,ENST00000265620,NM_001077489.2,NM_080426.2;GNAS,missense_variant,p.Gln213His,ENST00000306090,;GNAS,3_prime_UTR_variant,,ENST00000313949,;GNAS,3_prime_UTR_variant,,ENST00000371075,NM_016592.2;GNAS,downstream_gene_variant,,ENST00000419558,;GNAS,downstream_gene_variant,,ENST00000604005,;GNAS,downstream_gene_variant,,ENST00000450130,;GNAS,downstream_gene_variant,,ENST00000349036,;GNAS,downstream_gene_variant,,ENST00000603546,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,non_coding_transcript_exon_variant,,ENST00000477931,;GNAS,non_coding_transcript_exon_variant,,ENST00000480975,;GNAS,non_coding_transcript_exon_variant,,ENST00000488652,;GNAS,non_coding_transcript_exon_variant,,ENST00000470512,;GNAS,non_coding_transcript_exon_variant,,ENST00000488546,;GNAS,non_coding_transcript_exon_variant,,ENST00000480232,;GNAS,non_coding_transcript_exon_variant,,ENST00000476935,;GNAS,non_coding_transcript_exon_variant,,ENST00000492907,;GNAS,non_coding_transcript_exon_variant,,ENST00000481039,;GNAS,non_coding_transcript_exon_variant,,ENST00000467321,;GNAS,non_coding_transcript_exon_variant,,ENST00000468895,;GNAS,non_coding_transcript_exon_variant,,ENST00000493958,;GNAS,intron_variant,,ENST00000494081,;GNAS,downstream_gene_variant,,ENST00000472183,;GNAS,downstream_gene_variant,,ENST00000485673,;GNAS,downstream_gene_variant,,ENST00000482112,;GNAS,downstream_gene_variant,,ENST00000469431,;GNAS,downstream_gene_variant,,ENST00000490374,;GNAS,downstream_gene_variant,,ENST00000464788,;GNAS,downstream_gene_variant,,ENST00000467227,;GNAS,downstream_gene_variant,,ENST00000478585,;GNAS,non_coding_transcript_exon_variant,,ENST00000496934,;GNAS,non_coding_transcript_exon_variant,,ENST00000476196,;GNAS,non_coding_transcript_exon_variant,,ENST00000487862,;GNAS,non_coding_transcript_exon_variant,,ENST00000487981,;GNAS,non_coding_transcript_exon_variant,,ENST00000479025,;GNAS,upstream_gene_variant,,ENST00000475610,;					1,1		MODERATE	681/1185	Q227H	GNAS2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000360126		CCDS13472.1			1	
HHIPL1	0	LGGM	GRCh37	14	100129215	100129215	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	18	11	.	.	ENST00000330710.5:c.1505G>A	p.Arg502His	p.R502H	ENST00000330710	NM_001127258.1	502	cGt/cAt	0	1	1	UPI000022988D	0	getma.org/pdb.php?prot=HIPL1_HUMAN&from=193&to=555&var=R502H	ENST00000330710		ENSG00000182218	19710		29	2.715		HGNC	p.R502H	rs371368154	HHIPL1	8.69E-05	SNV							ENST00000330710	protein_coding	getma.org/?cm=var&var=hg19,14,100129215,G,A&fts=all		Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328:SF32,hmmpanther:PTHR19328		R/H		A	medium	1603/7390	6.17E-05	getma.org/?cm=msa&ty=f&p=HIPL1_HUMAN&rb=193&re=555&var=R502H	deleterious(0)	F1T0G3_HUMAN			YES	HHIPL1,missense_variant,p.Arg502His,ENST00000330710,NM_001127258.1;HHIPL1,missense_variant,p.Arg502His,ENST00000357223,NM_032425.4;							MODERATE	1505/2349	R502H	HIPL1_HUMAN	0.000151		Transcript		probably_damaging(1)	.	ENSP00000330601	4.94E-05	CCDS45162.1			1	
ASB13	0	LGGM	GRCh37	10	5682751	5682751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	26	11	.	.	ENST00000357700.6:c.752G>A	p.Arg251Lys	p.R251K	ENST00000357700	NM_024701.3	251	aGg/aAg	0	1	1	UPI00001260DE	0	NA	ENST00000357700		ENSG00000196372	19765		37	3.485		HGNC	p.R251K		ASB13		SNV							ENST00000357700	protein_coding	getma.org/?cm=var&var=hg19,10,5682751,C,T&fts=all		Pfam_domain:PF07525,PROSITE_profiles:PS50225,hmmpanther:PTHR24196,SMART_domains:SM00969,Superfamily_domains:SSF158235		R/K		T	medium	779/2699		getma.org/?cm=msa&ty=f&p=ASB13_HUMAN&rb=239&re=278&var=R251K	deleterious(0.01)				YES	ASB13,missense_variant,p.Arg251Lys,ENST00000357700,NM_024701.3;ASB13,non_coding_transcript_exon_variant,,ENST00000479033,;ASB13,non_coding_transcript_exon_variant,,ENST00000493897,;ASB13,3_prime_UTR_variant,,ENST00000459912,;							MODERATE	752/837	R251K	ASB13_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000350331		CCDS7070.1			1	
CDKN1B	0	LGGM	GRCh37	12	12870975	12870975	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	23	11	.	.	ENST00000228872.4:c.202A>T	p.Lys68Ter	p.K68*	ENST00000228872	NM_004064.3	68	Aaa/Taa	0	1	1	UPI0000035C92	0	NA	ENST00000228872		ENSG00000111276	1785		34	0		HGNC	p.K61X		CDKN1B		SNV			1				ENST00000442489	protein_coding	getma.org/?cm=var&var=hg19,12,12870975,A,T&fts=all		hmmpanther:PTHR10265:SF9,hmmpanther:PTHR10265,Pfam_domain:PF02234,Gene3D:1jsuC00		K/*		T	NA	918/2657		NA		Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN			YES	CDKN1B,stop_gained,p.Lys68Ter,ENST00000228872,NM_004064.3;CDKN1B,stop_gained,p.Lys68Ter,ENST00000396340,;CDKN1B,stop_gained,p.Lys61Ter,ENST00000442489,;CDKN1B,intron_variant,,ENST00000477087,;							HIGH	202/597	K68*	CDN1B_HUMAN			Transcript			.	ENSP00000228872		CCDS8653.1			1	
KIAA1551	0	LGGM	GRCh37	12	32135638	32135638	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	22	13	.	.	ENST00000312561.4:c.1749A>G	p.Leu583=	p.L583=	ENST00000312561	NM_018169.3	583	ctA/ctG	0	1	1	UPI0000577B2F	0		ENST00000312561		ENSG00000174718	25559		35			HGNC	p.L583L		KIAA1551		SNV							ENST00000381054	protein_coding			hmmpanther:PTHR21604		L		G		2163/6228				J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,synonymous_variant,p.=,ENST00000312561,NM_018169.3;KIAA1551,synonymous_variant,p.=,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;							LOW	1749/5244		K1551_HUMAN			Transcript			.	ENSP00000310338		CCDS8725.2			1	
ZDHHC2	0	LGGM	GRCh37	8	17067476	17067476	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	46	14	.	.	ENST00000262096.8:c.766G>A	p.Asp256Asn	p.D256N	ENST00000262096	NM_016353.4	256	Gat/Aat	0	1	1	UPI000004A02F	0	NA	ENST00000262096		ENSG00000104219	18469		60	2.125		HGNC	p.D256N		ZDHHC2		SNV							ENST00000262096	protein_coding	getma.org/?cm=var&var=hg19,8,17067476,G,A&fts=all		hmmpanther:PTHR22883:SF14,hmmpanther:PTHR22883		D/N		A	medium	1461/6377		getma.org/?cm=msa&ty=f&p=ZDHC2_HUMAN&rb=250&re=367&var=D256N	deleterious(0)	E5RFZ7_HUMAN,B3KMD6_HUMAN			YES	ZDHHC2,missense_variant,p.Asp256Asn,ENST00000262096,NM_016353.4;ZDHHC2,downstream_gene_variant,,ENST00000522184,;ZDHHC2,non_coding_transcript_exon_variant,,ENST00000517334,;							MODERATE	766/1104	D256N	ZDHC2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000262096		CCDS47810.1			1	
KDR	0	LGGM	GRCh37	4	55946143	55946143	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	35	14	.	.	ENST00000263923.4:c.4036G>T	p.Asp1346Tyr	p.D1346Y	ENST00000263923	NM_002253.2	1346	Gac/Tac	0	1	1	UPI000003AE04	0	NA	ENST00000263923		ENSG00000128052	6307		49	1.79		HGNC	p.D1346Y		KDR		SNV			1				ENST00000263923	protein_coding	getma.org/?cm=var&var=hg19,4,55946143,C,A&fts=all				D/Y		A	low	4332/5831		getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=1304&re=1356&var=D1346Y	deleterious_low_confidence(0.01)	B4DEK3_HUMAN			YES	KDR,missense_variant,p.Asp1346Tyr,ENST00000263923,NM_002253.2;RP11-530I17.1,intron_variant,,ENST00000511222,;							MODERATE	4036/4071	D1346Y	VGFR2_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000263923		CCDS3497.1			1	
GK2	0	LGGM	GRCh37	4	80329025	80329025	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	73	14	.	.	ENST00000358842.3:c.330T>C	p.Asn110=	p.N110=	ENST00000358842	NM_033214.2	110	aaT/aaC	0	1	1	UPI000011E629	0		ENST00000358842		ENSG00000196475	4291		87			HGNC	p.N110N		GK2		SNV							ENST00000358842	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF46,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR01311		N		G		348/1865							YES	GK2,synonymous_variant,p.=,ENST00000358842,NM_033214.2;							LOW	330/1662		GLPK2_HUMAN			Transcript			.	ENSP00000351706		CCDS3585.1			1	
ZNF623	0	LGGM	GRCh37	8	144732759	144732759	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	34	16	.	.	ENST00000501748.2:c.717G>C	p.Glu239Asp	p.E239D	ENST00000501748	NM_014789.3	239	gaG/gaC	0	1	1	UPI00001AF7CB	0	getma.org/pdb.php?prot=ZN623_HUMAN&from=221&to=246&var=E239D	ENST00000501748		ENSG00000183309	29084		50	0.46		HGNC	p.E239D		ZNF623		SNV							ENST00000532796	protein_coding	getma.org/?cm=var&var=hg19,8,144732759,G,C&fts=all		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		E/D		C	neutral	806/3947		getma.org/?cm=msa&ty=f&p=ZN623_HUMAN&rb=201&re=266&var=E239D	tolerated(0.19)				YES	ZNF623,missense_variant,p.Glu239Asp,ENST00000501748,NM_014789.3;ZNF623,missense_variant,p.Glu199Asp,ENST00000458270,NM_001082480.2;ZNF623,missense_variant,p.Glu199Asp,ENST00000526926,NM_001261843.1;RNU7-109P,upstream_gene_variant,,ENST00000516266,;							MODERATE	717/1611	E239D	ZN623_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000445979		CCDS34957.1			1	
BOC	0	LGGM	GRCh37	3	112991278	112991278	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	54	17	.	.	ENST00000495514.1:c.689G>A	p.Arg230His	p.R230H	ENST00000495514		230	cGc/cAc	0	1		UPI0000072E0E	0	getma.org/pdb.php?prot=BOC_HUMAN&from=215&to=232&var=R230H	ENST00000355385		ENSG00000144857	17173		71	1.28		HGNC	p.R230H	rs548199580	BOC		SNV							ENST00000355385	protein_coding	getma.org/?cm=var&var=hg19,3,112991278,G,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11		R/H		A	low	1028/4278	1.50E-05	getma.org/?cm=msa&ty=f&p=BOC_HUMAN&rb=185&re=262&var=R230H	tolerated(0.18)	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,missense_variant,p.Arg230His,ENST00000495514,;BOC,missense_variant,p.Arg230His,ENST00000355385,NM_033254.2;BOC,missense_variant,p.Arg230His,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000498710,;BOC,upstream_gene_variant,,ENST00000497495,;BOC,downstream_gene_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,downstream_gene_variant,,ENST00000471963,;							MODERATE	689/3345	R230H	BOC_HUMAN			Transcript		possibly_damaging(0.637)	.	ENSP00000347546	8.24E-06	CCDS2971.1			1	
DIP2C	0	LGGM	GRCh37	10	430511	430511	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	62	18	.	.	ENST00000280886.6:c.1731G>C	p.Trp577Cys	p.W577C	ENST00000280886	NM_014974.2	577	tgG/tgC	0	1	1	UPI00001833B9	0	getma.org/pdb.php?prot=DIP2C_HUMAN&from=351&to=819&var=W577C	ENST00000280886		ENSG00000151240	29150		80	2.905		HGNC	p.W577C		DIP2C		SNV							ENST00000280886	protein_coding	getma.org/?cm=var&var=hg19,10,430511,C,G&fts=all		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		W/C		G	medium	1819/7894		getma.org/?cm=msa&ty=f&p=DIP2C_HUMAN&rb=351&re=819&var=W577C	deleterious(0)				YES	DIP2C,missense_variant,p.Trp577Cys,ENST00000280886,NM_014974.2;DIP2C,missense_variant,p.Trp470Cys,ENST00000381496,;DIP2C,missense_variant,p.Trp45Cys,ENST00000421992,;							MODERATE	1731/4671	W577C	DIP2C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000280886		CCDS7054.1			1	
RBPMS	0	LGGM	GRCh37	8	30336856	30336856	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	35	19	.	.	ENST00000339877.4:c.209G>A	p.Ser70Asn	p.S70N	ENST00000339877	NM_001008712.2	70	aGt/aAt	0	1		UPI0000133385	0	getma.org/pdb.php?prot=RBPMS_HUMAN&from=26&to=89&var=S70N	ENST00000320203		ENSG00000157110	19097		54	0.995		HGNC	p.S70N		RBPMS		SNV							ENST00000517860	protein_coding	getma.org/?cm=var&var=hg19,8,30336856,G,A&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF00076,Gene3D:3.30.70.330,hmmpanther:PTHR12742,hmmpanther:PTHR12742:SF2,PROSITE_profiles:PS50102		S/N		A	low	791/3110		getma.org/?cm=msa&ty=f&p=RBPMS_HUMAN&rb=26&re=89&var=S70N	tolerated(0.08)	E5RJD7_HUMAN				RBPMS,missense_variant,p.Ser70Asn,ENST00000320203,NM_006867.3;RBPMS,missense_variant,p.Ser70Asn,ENST00000287771,NM_001008711.2;RBPMS,missense_variant,p.Ser70Asn,ENST00000397323,NM_001008710.2;RBPMS,missense_variant,p.Ser70Asn,ENST00000538486,;RBPMS,missense_variant,p.Ser70Asn,ENST00000339877,NM_001008712.2;RBPMS,missense_variant,p.Ser70Asn,ENST00000517860,;RBPMS,5_prime_UTR_variant,,ENST00000520191,;RBPMS,5_prime_UTR_variant,,ENST00000520161,;RBPMS,5_prime_UTR_variant,,ENST00000519647,;RBPMS,5_prime_UTR_variant,,ENST00000523115,;RBPMS,non_coding_transcript_exon_variant,,ENST00000523717,;RBPMS,non_coding_transcript_exon_variant,,ENST00000522708,;RBPMS,downstream_gene_variant,,ENST00000521816,;RBPMS,missense_variant,p.Ser46Asn,ENST00000519359,;RBPMS,missense_variant,p.Ser4Asn,ENST00000522694,;							MODERATE	209/591	S70N	RBPMS_HUMAN			Transcript		benign(0.168)	.	ENSP00000318102		CCDS6077.1			1	
WDR5B	0	LGGM	GRCh37	3	122133887	122133887	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	51	21	.	.	ENST00000330689.4:c.489G>T	p.Leu163Phe	p.L163F	ENST00000330689	NM_019069.3	163	ttG/ttT	0	1	1	UPI000000DA52	0	getma.org/pdb.php?prot=WDR5B_HUMAN&from=157&to=195&var=L163F	ENST00000330689		ENSG00000196981	17826		72	0.705		HGNC	p.L163F		WDR5B		SNV							ENST00000330689	protein_coding	getma.org/?cm=var&var=hg19,3,122133887,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF308,SMART_domains:SM00320,Superfamily_domains:SSF50978		L/F		A	neutral	996/4168		getma.org/?cm=msa&ty=f&p=WDR5B_HUMAN&rb=157&re=195&var=L163F	deleterious(0.02)				YES	WDR5B,missense_variant,p.Leu163Phe,ENST00000330689,NM_019069.3;FAM162A,downstream_gene_variant,,ENST00000477892,NM_014367.3;RP11-299J3.8,upstream_gene_variant,,ENST00000608756,;RP11-299J3.8,upstream_gene_variant,,ENST00000608015,;RP11-299J3.8,upstream_gene_variant,,ENST00000608346,;RP11-299J3.8,upstream_gene_variant,,ENST00000609469,;RP11-299J3.8,upstream_gene_variant,,ENST00000608465,;RP11-299J3.6,downstream_gene_variant,,ENST00000472671,;							MODERATE	489/993	L163F	WDR5B_HUMAN			Transcript		benign(0.441)	.	ENSP00000330381		CCDS3012.1			1	
DOCK9	0	LGGM	GRCh37	13	99520593	99520593	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	107	25	.	.	ENST00000376460.1:c.2982T>A	p.His994Gln	p.H994Q	ENST00000376460	NM_015296.2	994	caT/caA	0	1	1	UPI000046FD7F	0	NA	ENST00000376460		ENSG00000088387	14132		132	0.95		HGNC	p.H994Q		DOCK9		SNV							ENST00000376460	protein_coding	getma.org/?cm=var&var=hg19,13,99520593,A,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77		H/Q		T	low	3063/7549		getma.org/?cm=msa&ty=f&p=DOCK9_HUMAN&rb=829&re=1028&var=H995Q	tolerated(0.33)				YES	DOCK9,missense_variant,p.His994Gln,ENST00000376460,NM_015296.2,NM_001130048.1;DOCK9,missense_variant,p.His995Gln,ENST00000339416,;DOCK9,missense_variant,p.His1006Gln,ENST00000448493,;DOCK9,missense_variant,p.His994Gln,ENST00000442173,NM_001130049.1,NM_001130050.1;DOCK9,upstream_gene_variant,,ENST00000461998,;							MODERATE	2982/6207	H995Q	DOCK9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000365643		CCDS45062.1			1	
THRB	0	LGGM	GRCh37	3	24231644	24231644	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072601	H072601N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	55	26	.	.	ENST00000396671.2:c.204C>T	p.Phe68=	p.F68=	ENST00000396671	NM_001128176.2	68	ttC/ttT	0	1		UPI0000136D26	0		ENST00000356447		ENSG00000151090	11799		81			HGNC	p.F68F		THRB		SNV			1				ENST00000431815	protein_coding			hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF210		F		A		489/6341				J3KR21_HUMAN,F1D8N7_HUMAN,C9JZS5_HUMAN,C9JTN1_HUMAN,C9JNQ4_HUMAN,C9JJM3_HUMAN,C9JHC2_HUMAN				THRB,synonymous_variant,p.=,ENST00000396671,NM_001128176.2;THRB,synonymous_variant,p.=,ENST00000356447,NM_001128177.1,NM_000461.4;THRB,synonymous_variant,p.=,ENST00000416420,NM_001252634.1;THRB,synonymous_variant,p.=,ENST00000413780,;THRB,synonymous_variant,p.=,ENST00000447875,;THRB,synonymous_variant,p.=,ENST00000453729,;THRB,synonymous_variant,p.=,ENST00000415021,;THRB,synonymous_variant,p.=,ENST00000447414,;THRB,synonymous_variant,p.=,ENST00000431815,;THRB,downstream_gene_variant,,ENST00000418247,;THRB,downstream_gene_variant,,ENST00000428492,;							LOW	204/1386		THB_HUMAN			Transcript			.	ENSP00000348827		CCDS2641.1			1	
FMN1	0	LGGM	GRCh37	15	33261389	33261389	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	71	26	.	.	ENST00000334528.9:c.1844T>C	p.Leu615Ser	p.L615S	ENST00000334528	NM_001103184.3	615	tTa/tCa	0	1		UPI0001AE68B4	0	NA	ENST00000559047		ENSG00000248905	3768		97	1.87		HGNC	p.L838S		FMN1		SNV							ENST00000559047	protein_coding	getma.org/?cm=var&var=hg19,15,33261389,A,G&fts=all		hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037		L/S		G	low	2513/4260		getma.org/?cm=msa&ty=f&p=FMN1_HUMAN&rb=678&re=877&var=L838S						FMN1,missense_variant,p.Leu615Ser,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Leu838Ser,ENST00000559047,NM_001277313.1;FMN1,missense_variant,p.Leu740Ser,ENST00000561249,;SNORD77,upstream_gene_variant,,ENST00000391113,;							MODERATE	2513/4260	L838S	FMN1_HUMAN			Transcript		unknown(0)	.	ENSP00000454047		CCDS61581.1			1	
CCDC150	0	LGGM	GRCh37	2	197593997	197593997	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072601	H072601N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	75	39	.	.	ENST00000389175.4:c.2637A>T	p.Ala879=	p.A879=	ENST00000389175	NM_001080539.1	879	gcA/gcT	0	1	1	UPI0000DD7A7C	0		ENST00000389175		ENSG00000144395	26834		114			HGNC	p.A366A		CCDC150		SNV							ENST00000409270	protein_coding			Coiled-coils_(Ncoils):Coil		A		T		2772/3685							YES	CCDC150,synonymous_variant,p.=,ENST00000389175,NM_001080539.1;CCDC150,synonymous_variant,p.=,ENST00000272831,;CCDC150,synonymous_variant,p.=,ENST00000409270,;CCDC150,non_coding_transcript_exon_variant,,ENST00000487663,;CCDC150,non_coding_transcript_exon_variant,,ENST00000494389,;CCDC150,upstream_gene_variant,,ENST00000461243,;CCDC150,upstream_gene_variant,,ENST00000483877,;CCDC150,synonymous_variant,p.=,ENST00000448409,;CCDC150,3_prime_UTR_variant,,ENST00000431807,;CCDC150,3_prime_UTR_variant,,ENST00000424427,;CCDC150,downstream_gene_variant,,ENST00000463826,;							LOW	2637/3306		CC150_HUMAN			Transcript			.	ENSP00000373827		CCDS46478.1			1	
KIAA2026	0	LGGM	GRCh37	9	5920398	5920398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072601	H072601N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072601N.bam, H072601T.bam	Illumina HiSeq	96	144	.	.	ENST00000399933.3:c.5598G>T	p.Gln1866His	p.Q1866H	ENST00000399933	NM_001017969.2	1866	caG/caT	0	1	1	UPI0001533DB0	0	NA	ENST00000399933		ENSG00000183354	23378		240	1.995		HGNC	p.Q1836H		KIAA2026		SNV							ENST00000381461	protein_coding	getma.org/?cm=var&var=hg19,9,5920398,C,A&fts=all		hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095		Q/H		A	medium	5598/6988		getma.org/?cm=msa&ty=f&p=K2026_HUMAN&rb=1721&re=2102&var=Q1866H	tolerated(0.16)				YES	KIAA2026,missense_variant,p.Gln1866His,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Gln1836His,ENST00000381461,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,intron_variant,,ENST00000436015,;							MODERATE	5598/6312	Q1866H	K2026_HUMAN			Transcript		benign(0.001)	.	ENSP00000382815					1	
ZNF746	0	LGGM	GRCh37	7	149171841	149171841	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	7	2	.	.	ENST00000458143.2:c.1572G>C	p.Ala524=	p.A524=	ENST00000458143	NM_001163474.1	524	gcG/gcC	0	1		UPI0000352C19	0		ENST00000340622		ENSG00000181220	21948		9			HGNC	p.A524A		ZNF746		SNV							ENST00000458143	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A		G		1850/3806				Q96N48_HUMAN				ZNF746,synonymous_variant,p.=,ENST00000340622,;ZNF746,synonymous_variant,p.=,ENST00000458143,NM_001163474.1,NM_152557.4;ZNF746,downstream_gene_variant,,ENST00000471735,;							LOW	1569/1935		ZN746_HUMAN			Transcript			.	ENSP00000345140		CCDS5897.1			1	
CCDC18	0	LGGM	GRCh37	1	93646212	93646212	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	11	2	.	.	ENST00000370282.3:c.-413C>A		*138*	ENST00000370282	NM_016040.4			0	1		UPI0000470B9C	0		ENST00000343253		ENSG00000122483	30370		13			HGNC	p.R42L		CCDC18		SNV							ENST00000557479	protein_coding							T		-/4867								CCDC18,missense_variant,p.Arg42Leu,ENST00000557479,NM_206886.3;TMED5,5_prime_UTR_variant,,ENST00000370282,NM_016040.4;CCDC18,5_prime_UTR_variant,,ENST00000334652,;CCDC18,5_prime_UTR_variant,,ENST00000401026,;CCDC18,5_prime_UTR_variant,,ENST00000338949,;CCDC18,intron_variant,,ENST00000343253,;CCDC18,upstream_gene_variant,,ENST00000370276,;TMED5,upstream_gene_variant,,ENST00000479918,NM_001167830.1;TMED5,upstream_gene_variant,,ENST00000370280,;CCDC18,upstream_gene_variant,,ENST00000448243,;CCDC18,intron_variant,,ENST00000528942,;TMED5,upstream_gene_variant,,ENST00000370290,;CCDC18,upstream_gene_variant,,ENST00000481180,;CCDC18,upstream_gene_variant,,ENST00000479653,;							MODIFIER	-/4365		CCD18_HUMAN			Transcript			.	ENSP00000343377					1	
PNKP	0	LGGM	GRCh37	19	50368645	50368645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	1	2	.	.	ENST00000322344.3:c.237G>T	p.Leu79Phe	p.L79F	ENST00000322344	NM_007254.3	79	ttG/ttT	0	1	1	UPI00000705EA	0	getma.org/pdb.php?prot=PNKP_HUMAN&from=1&to=165&var=L79F	ENST00000322344		ENSG00000039650	9154		3	1.75		HGNC	p.L79F		PNKP		SNV			1				ENST00000600573	protein_coding	getma.org/?cm=var&var=hg19,19,50368645,C,A&fts=all		hmmpanther:PTHR12083:SF9,hmmpanther:PTHR12083,TIGRFAM_domain:TIGR01663,Gene3D:2.60.200.20,Superfamily_domains:SSF49879		L/F		A	low	347/1720		getma.org/?cm=msa&ty=f&p=PNKP_HUMAN&rb=1&re=165&var=L79F	deleterious(0.03)	M0R000_HUMAN,M0QYI1_HUMAN			YES	PNKP,missense_variant,p.Leu79Phe,ENST00000322344,NM_007254.3;PNKP,missense_variant,p.Leu79Phe,ENST00000596014,;PNKP,missense_variant,p.Leu79Phe,ENST00000600573,;PNKP,missense_variant,p.Leu79Phe,ENST00000600910,;AKT1S1,downstream_gene_variant,,ENST00000391833,NM_001278160.1;AKT1S1,downstream_gene_variant,,ENST00000391835,;AKT1S1,downstream_gene_variant,,ENST00000391834,NM_032375.5;AKT1S1,downstream_gene_variant,,ENST00000391831,NM_001278159.1;AKT1S1,downstream_gene_variant,,ENST00000391832,NM_001098632.2;PTOV1,downstream_gene_variant,,ENST00000391842,NM_017432.3;AKT1S1,downstream_gene_variant,,ENST00000344175,NM_001098633.3;PTOV1,downstream_gene_variant,,ENST00000601675,;PTOV1,downstream_gene_variant,,ENST00000599732,;PTOV1,downstream_gene_variant,,ENST00000221557,;PTOV1,downstream_gene_variant,,ENST00000600603,;PTOV1,downstream_gene_variant,,ENST00000601638,;PTOV1,downstream_gene_variant,,ENST00000601093,;PNKP,downstream_gene_variant,,ENST00000596726,;PNKP,downstream_gene_variant,,ENST00000599543,;PNKP,upstream_gene_variant,,ENST00000597965,;PTOV1,downstream_gene_variant,,ENST00000597730,;AC018766.4,upstream_gene_variant,,ENST00000596624,;PTOV1,downstream_gene_variant,,ENST00000598325,;PNKP,downstream_gene_variant,,ENST00000595792,;PNKP,3_prime_UTR_variant,,ENST00000593946,;PNKP,3_prime_UTR_variant,,ENST00000598020,;PNKP,non_coding_transcript_exon_variant,,ENST00000594661,;PTOV1,downstream_gene_variant,,ENST00000597793,;PTOV1,downstream_gene_variant,,ENST00000601612,;PNKP,upstream_gene_variant,,ENST00000593706,;PNKP,upstream_gene_variant,,ENST00000601816,;PNKP,upstream_gene_variant,,ENST00000599454,;PNKP,upstream_gene_variant,,ENST00000595081,;							MODERATE	237/1566	L79F	PNKP_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000323511		CCDS12783.1			1	
ZNF135	0	LGGM	GRCh37	19	58578290	58578290	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	12	2	.	.	ENST00000401053.4:c.510G>A	p.Pro170=	p.P170=	ENST00000401053	NM_001164529.1	170	ccG/ccA	0	1		UPI00001984EC	0		ENST00000313434		ENSG00000176293	12919		14			HGNC	p.P158P	rs756446574	ZNF135	6.06E-05	SNV							ENST00000504540	protein_coding			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245		P		A		539/3025	3.00E-05			Q8N9M3_HUMAN				ZNF135,synonymous_variant,p.=,ENST00000506786,;ZNF135,synonymous_variant,p.=,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,synonymous_variant,p.=,ENST00000313434,NM_003436.3;ZNF135,synonymous_variant,p.=,ENST00000511556,;ZNF135,synonymous_variant,p.=,ENST00000359978,NM_001164530.1;ZNF135,synonymous_variant,p.=,ENST00000439855,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;							LOW	438/1977		ZN135_HUMAN			Transcript			.	ENSP00000321406	2.47E-05				1	
TNK1	0	LGGM	GRCh37	17	7287072	7287072	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	8	2	.	.	ENST00000576812.1:c.471G>C	p.Pro157=	p.P157=	ENST00000576812	NM_001251902.1	157	ccG/ccC	0	1	1	UPI000013F1D0	0		ENST00000576812		ENSG00000174292	11940		10			HGNC	p.P157P		TNK1		SNV							ENST00000311668	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF187,SMART_domains:SM00219,Superfamily_domains:SSF56112		P		C		840/3023							YES	TNK1,synonymous_variant,p.=,ENST00000570896,;TNK1,synonymous_variant,p.=,ENST00000576812,NM_001251902.1;TNK1,synonymous_variant,p.=,ENST00000311668,NM_003985.4;TNK1,upstream_gene_variant,,ENST00000576716,;TNK1,downstream_gene_variant,,ENST00000575268,;TNK1,upstream_gene_variant,,ENST00000576136,;TNK1,downstream_gene_variant,,ENST00000576207,;TNK1,downstream_gene_variant,,ENST00000574794,;TNK1,upstream_gene_variant,,ENST00000577009,;							LOW	471/2001		TNK1_HUMAN			Transcript			.	ENSP00000459799		CCDS58510.1			1	
APOA5	0	LGGM	GRCh37	11	116660918	116660918	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	11	2	.	.	ENST00000542499.1:c.1027C>A	p.Arg343Ser	p.R343S	ENST00000542499	NM_001166598.1	343	Cgt/Agt	0	1		UPI00000361EF	0	NA	ENST00000227665		ENSG00000110243	17288		13	2.19		HGNC	p.R343S		APOA5		SNV			1				ENST00000227665	protein_coding	getma.org/?cm=var&var=hg19,11,116660918,G,T&fts=all		Gene3D:1.20.120.20,hmmpanther:PTHR18976:SF13,hmmpanther:PTHR18976		R/S		T	medium	1062/1897		getma.org/?cm=msa&ty=f&p=APOA5_HUMAN&rb=309&re=366&var=R343S	deleterious(0.04)	C9JZZ0_HUMAN,B0YIW1_HUMAN				APOA5,missense_variant,p.Arg343Ser,ENST00000542499,NM_001166598.1,NM_052968.4;APOA5,missense_variant,p.Arg343Ser,ENST00000227665,;ZNF259,upstream_gene_variant,,ENST00000227322,NM_003904.3;ZNF259,upstream_gene_variant,,ENST00000444935,;ZNF259,upstream_gene_variant,,ENST00000429220,;APOA5,downstream_gene_variant,,ENST00000433069,;ZNF259,upstream_gene_variant,,ENST00000449430,;ZNF259,upstream_gene_variant,,ENST00000425791,;ZNF259,upstream_gene_variant,,ENST00000487030,;ZNF259,upstream_gene_variant,,ENST00000431973,;ZNF259,upstream_gene_variant,,ENST00000498065,;							MODERATE	1027/1101	R343S	APOA5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000227665		CCDS8376.2			1	
ZNF646	0	LGGM	GRCh37	16	31088891	31088891	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	5	2	.	.	ENST00000300850.5:c.1246C>A	p.Leu416Ile	p.L416I	ENST00000300850	NM_014699.3	416	Ctc/Atc	0	1		UPI00001395B0	0	NA	ENST00000394979		ENSG00000167395	29004		7	2.53		HGNC	p.L416I		ZNF646		SNV							ENST00000394979	protein_coding	getma.org/?cm=var&var=hg19,16,31088891,C,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182,PROSITE_profiles:PS50157		L/I		A	medium	1669/8118		getma.org/?cm=msa&ty=f&p=ZN646_HUMAN&rb=381&re=444&var=L416I	deleterious(0.01)	H3BSD0_HUMAN,C9J3L0_HUMAN				ZNF646,missense_variant,p.Leu416Ile,ENST00000394979,;ZNF646,missense_variant,p.Leu416Ile,ENST00000300850,NM_014699.3;ZNF668,upstream_gene_variant,,ENST00000538906,NM_001172668.1;ZNF668,upstream_gene_variant,,ENST00000300849,NM_024706.4;ZNF668,upstream_gene_variant,,ENST00000394983,;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;ZNF668,upstream_gene_variant,,ENST00000414399,;ZNF668,upstream_gene_variant,,ENST00000417935,;ZNF668,upstream_gene_variant,,ENST00000564456,;							MODERATE	1246/5490	L416I	ZN646_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000378429					1	
RHOB	0	LGGM	GRCh37	2	20647269	20647269	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	6	2	.	.	ENST00000272233.4:c.43G>T	p.Ala15Ser	p.A15S	ENST00000272233	NM_004040.2	15	Gcg/Tcg	0	1	1	UPI0000021989	0	getma.org/pdb.php?prot=RHOB_HUMAN&from=7&to=180&var=A15S	ENST00000272233		ENSG00000143878	668		8	0.94		HGNC	p.A15S		RHOB		SNV							ENST00000272233	protein_coding	getma.org/?cm=var&var=hg19,2,20647269,G,T&fts=all		PROSITE_profiles:PS51420,hmmpanther:PTHR24072:SF100,hmmpanther:PTHR24072,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00173,SMART_domains:SM00175,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449		A/S		T	low	435/2366		getma.org/?cm=msa&ty=f&p=RHOB_HUMAN&rb=7&re=180&var=A15S	deleterious(0.03)	B4DMJ8_HUMAN			YES	RHOB,missense_variant,p.Ala15Ser,ENST00000272233,NM_004040.2;AC023137.2,upstream_gene_variant,,ENST00000448241,;							MODERATE	43/591	A15S	RHOB_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000272233		CCDS1699.1			1	
TAF5L	0	LGGM	GRCh37	1	229745852	229745852	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	23	3	.	.	ENST00000258281.2:c.247+1G>T		p.X83_splice	ENST00000258281	NM_014409.3			0	1	1	UPI0000073E93	0		ENST00000258281		ENSG00000135801	17304		26			HGNC	-		TAF5L		SNV							ENST00000366676	protein_coding							A		-/3112							YES	TAF5L,splice_donor_variant,,ENST00000366675,NM_001025247.1;TAF5L,splice_donor_variant,,ENST00000258281,NM_014409.3;TAF5L,splice_donor_variant,,ENST00000366676,;TAF5L,downstream_gene_variant,,ENST00000366674,;TAF5L,splice_donor_variant,,ENST00000477957,;							HIGH	247/1770		TAF5L_HUMAN			Transcript			.	ENSP00000258281		CCDS1581.1			1	
CENPE	0	LGGM	GRCh37	4	104031984	104031984	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	27	3	.	.	ENST00000265148.3:c.7724+1G>T		p.X2575_splice	ENST00000265148	NM_001813.2			0	1	1	UPI000020B28A	0		ENST00000265148		ENSG00000138778	1856		30			HGNC	-		CENPE		SNV			1				ENST00000265148	protein_coding							A		-/8612				D6RBW0_HUMAN			YES	CENPE,splice_donor_variant,,ENST00000265148,NM_001813.2;CENPE,splice_donor_variant,,ENST00000380026,NM_001286734.1;							HIGH	7724/8106		CENPE_HUMAN			Transcript			.	ENSP00000265148		CCDS34042.1			1	
MDFI	0	LGGM	GRCh37	6	41621105	41621105	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	41	3	.	.	ENST00000230321.6:c.533C>A	p.Thr178Lys	p.T178K	ENST00000230321	NM_005586.3	178	aCg/aAg	0	1	1	UPI000012EE0C	0	NA	ENST00000230321		ENSG00000112559	6967	0.000692	44	2.31		HGNC	p.T178K	rs374281068	MDFI		SNV	T:0						ENST00000230321	protein_coding	getma.org/?cm=var&var=hg19,6,41621105,C,A&fts=all	A:0	hmmpanther:PTHR15304:SF1,hmmpanther:PTHR15304,Pfam_domain:PF15316		T/K	T:0.0001	A	medium	750/1629	1.51E-05	getma.org/?cm=msa&ty=f&p=MDFI_HUMAN&rb=1&re=244&var=T178K	deleterious(0)	B1AKC1_HUMAN,B1AKC0_HUMAN,B1AKB8_HUMAN,B1AKB7_HUMAN	A:0.0014	A:0	YES	MDFI,missense_variant,p.Thr178Lys,ENST00000230321,NM_005586.3;MDFI,missense_variant,p.Thr178Lys,ENST00000373051,;MDFI,missense_variant,p.Thr178Lys,ENST00000419164,;MDFI,missense_variant,p.Thr117Lys,ENST00000373050,;MDFI,missense_variant,p.Thr178Lys,ENST00000432027,;MDFI,missense_variant,p.Thr117Lys,ENST00000435476,;MDFI,downstream_gene_variant,,ENST00000446650,;MDFI,downstream_gene_variant,,ENST00000441667,;MDFI,downstream_gene_variant,,ENST00000471092,;		A:0.0004					MODERATE	533/741	T178K	MDFI_HUMAN		A:0.001	Transcript		possibly_damaging(0.77)	common_variant	ENSP00000230321	7.41E-05	CCDS4857.1		A:0	1	
CLVS2	0	LGGM	GRCh37	6	123332205	123332205	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	44	3	.	.	ENST00000275162.5:c.465G>T	p.Val155=	p.V155=	ENST00000275162	NM_001010852.3	155	gtG/gtT	0	1	1	UPI000013DA49	0		ENST00000275162		ENSG00000146352	23046		47			HGNC	p.V155V		CLVS2		SNV							ENST00000275162	protein_coding			PROSITE_profiles:PS50191,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF73,Gene3D:3.40.525.10,Pfam_domain:PF00650,SMART_domains:SM00516,Superfamily_domains:SSF52087		V		T		1800/11485							YES	CLVS2,synonymous_variant,p.=,ENST00000275162,NM_001010852.3;CLVS2,synonymous_variant,p.=,ENST00000368438,;							LOW	465/984		CLVS2_HUMAN			Transcript			.	ENSP00000275162		CCDS34525.1			1	
CCNB3	0	LGGM	GRCh37	X	50054228	50054228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	26	3	.	.	ENST00000376042.1:c.3059C>A	p.Thr1020Asn	p.T1020N	ENST00000376042		1020	aCc/aAc	0	1		UPI000022DC76	0	NA	ENST00000276014		ENSG00000147082	18709		29	0.55		HGNC	p.T1020N		CCNB3		SNV							ENST00000276014	protein_coding	getma.org/?cm=var&var=hg19,X,50054228,C,A&fts=all				T/N		A	neutral	3173/4509		getma.org/?cm=msa&ty=f&p=CCNB3_HUMAN&rb=1001&re=1131&var=T1020N	tolerated(0.1)	Q8WTR6_HUMAN				CCNB3,missense_variant,p.Thr1020Asn,ENST00000376042,;CCNB3,missense_variant,p.Thr1020Asn,ENST00000276014,NM_033031.2;CCNB3,intron_variant,,ENST00000376038,;CCNB3,intron_variant,,ENST00000348603,NM_033670.2;CCNB3,intron_variant,,ENST00000476167,;							MODERATE	3059/4188	T1020N	CCNB3_HUMAN			Transcript		benign(0.403)	.	ENSP00000276014		CCDS14331.1			1	
ZNF268	0	LGGM	GRCh37	12	133768139	133768139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	47	3	.	.	ENST00000536435.2:c.299C>A	p.Pro100Gln	p.P100Q	ENST00000536435	NM_003415.2	100	cCa/cAa	0	1		UPI000013C33E	0	getma.org/pdb.php?prot=ZN268_HUMAN&from=81&to=121&var=P100Q	ENST00000228289		ENSG00000090612	13061		50	2.77		HGNC	p.P100Q		ZNF268		SNV							ENST00000541009	protein_coding	getma.org/?cm=var&var=hg19,12,133768139,C,A&fts=all		Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF255,PROSITE_profiles:PS50805		P/Q		A	medium	505/3543		getma.org/?cm=msa&ty=f&p=ZN268_HUMAN&rb=81&re=121&var=P100Q	deleterious(0.02)	Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN				ZNF268,missense_variant,p.Pro100Gln,ENST00000536435,NM_003415.2,NM_001165885.1;ZNF268,missense_variant,p.Pro85Gln,ENST00000542986,;ZNF268,missense_variant,p.Pro100Gln,ENST00000541009,NM_152943.2;ZNF268,missense_variant,p.Pro100Gln,ENST00000228289,NM_001165882.2,NM_001165881.2;ZNF268,missense_variant,p.Pro265Gln,ENST00000416488,;CTD-2140B24.4,missense_variant,p.Pro265Gln,ENST00000540096,;ZNF268,missense_variant,p.Pro17Gln,ENST00000500625,;ZNF268,missense_variant,p.Pro33Gln,ENST00000592241,NM_001165887.1;ZNF268,missense_variant,p.Pro20Gln,ENST00000591951,;ZNF268,missense_variant,p.Pro17Gln,ENST00000541975,;ZNF268,intron_variant,,ENST00000537565,;ZNF268,intron_variant,,ENST00000536899,NM_001165884.2;ZNF268,intron_variant,,ENST00000542711,NM_001165886.1;ZNF268,intron_variant,,ENST00000541211,;ZNF268,intron_variant,,ENST00000539248,NM_001165883.1;ZNF268,non_coding_transcript_exon_variant,,ENST00000585488,;ZNF268,intron_variant,,ENST00000588312,;ZNF268,downstream_gene_variant,,ENST00000546126,;ZNF268,downstream_gene_variant,,ENST00000537973,;ZNF268,upstream_gene_variant,,ENST00000534953,;							MODERATE	299/2844	P100Q	ZN268_HUMAN			Transcript		benign(0.229)	.	ENSP00000228289		CCDS45012.1			1	
KNDC1	0	LGGM	GRCh37	10	134997378	134997378	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	38	3	.	.	ENST00000304613.3:c.510C>A	p.Ser170Arg	p.S170R	ENST00000304613		170	agC/agA	0	1	1	UPI00003529F7	0	NA	ENST00000304613		ENSG00000171798	29374		41	1.67		HGNC	p.S105R		KNDC1		SNV							ENST00000368571	protein_coding	getma.org/?cm=var&var=hg19,10,134997378,C,A&fts=all		SMART_domains:SM00750,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS51377		S/R		A	low	531/6793		getma.org/?cm=msa&ty=f&p=VKIND_HUMAN&rb=1&re=219&var=S170R	deleterious(0)	B4DFN0_HUMAN			YES	KNDC1,missense_variant,p.Ser170Arg,ENST00000304613,;KNDC1,missense_variant,p.Ser170Arg,ENST00000368572,NM_152643.6;KNDC1,missense_variant,p.Ser105Arg,ENST00000368571,;KNDC1,downstream_gene_variant,,ENST00000530127,;KNDC1,downstream_gene_variant,,ENST00000485110,;							MODERATE	510/5250	S170R	VKIND_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000304437		CCDS7674.1			1	
CUL2	0	LGGM	GRCh37	10	35317804	35317804	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	23	3	.	.	ENST00000537177.1:c.1608G>A	p.Trp536Ter	p.W536*	ENST00000537177	NM_001198779.1	536	tgG/tgA	0	1		UPI0000000DC6	0	NA	ENST00000374748		ENSG00000108094	2552		26	0		HGNC	p.W517X		CUL2		SNV							ENST00000374748	protein_coding	getma.org/?cm=var&var=hg19,10,35317804,C,T&fts=all		PROSITE_profiles:PS50069,hmmpanther:PTHR11932:SF23,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1ldjA05,SMART_domains:SM00182,Superfamily_domains:SSF75632		W/*		T	NA	1865/4312		NA		Q5T2B4_HUMAN				CUL2,stop_gained,p.Trp517Ter,ENST00000374748,;CUL2,stop_gained,p.Trp517Ter,ENST00000374751,NM_001198777.1;CUL2,stop_gained,p.Trp517Ter,ENST00000374749,NM_003591.3;CUL2,stop_gained,p.Trp517Ter,ENST00000374746,;CUL2,stop_gained,p.Trp460Ter,ENST00000602371,;CUL2,stop_gained,p.Trp517Ter,ENST00000374742,;CUL2,stop_gained,p.Trp536Ter,ENST00000537177,NM_001198779.1,NM_001198778.1;CUL2,3_prime_UTR_variant,,ENST00000374754,;							HIGH	1551/2238	W517*	CUL2_HUMAN			Transcript			.	ENSP00000363880		CCDS7179.1			1	
FBXO36	0	LGGM	GRCh37	2	230787295	230787295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	11	3	.	.	ENST00000283946.3:c.66C>A	p.Asp22Glu	p.D22E	ENST00000283946	NM_174899.4	22	gaC/gaA	0	1	1	UPI0000209731	0	NA	ENST00000283946		ENSG00000153832	27020		14	2.67		HGNC	p.D22E		FBXO36		SNV							ENST00000283946	protein_coding	getma.org/?cm=var&var=hg19,2,230787295,C,A&fts=all				D/E		A	medium	84/2810		getma.org/?cm=msa&ty=f&p=FBX36_HUMAN&rb=1&re=91&var=D22E	deleterious(0)				YES	FBXO36,missense_variant,p.Asp22Glu,ENST00000283946,NM_174899.4;FBXO36,missense_variant,p.Asp22Glu,ENST00000409992,;FBXO36,5_prime_UTR_variant,,ENST00000373652,;TRIP12,intron_variant,,ENST00000435716,;TRIP12,upstream_gene_variant,,ENST00000283943,NM_004238.1;TRIP12,upstream_gene_variant,,ENST00000389044,NM_001284214.1;TRIP12,upstream_gene_variant,,ENST00000389045,NM_001284216.1;TRIP12,upstream_gene_variant,,ENST00000543084,;TRIP12,upstream_gene_variant,,ENST00000409677,;TRIP12,upstream_gene_variant,,ENST00000430954,;TRIP12,upstream_gene_variant,,ENST00000428959,;TRIP12,upstream_gene_variant,,ENST00000343290,;FBXO36,non_coding_transcript_exon_variant,,ENST00000465090,;TRIP12,upstream_gene_variant,,ENST00000479037,;							MODERATE	66/567	D22E	FBX36_HUMAN			Transcript		benign(0.245)	.	ENSP00000283946		CCDS2472.1			1	
DOPEY1	0	LGGM	GRCh37	6	83869642	83869642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	25	3	.	.	ENST00000349129.2:c.6925C>A	p.Leu2309Ile	p.L2309I	ENST00000349129	NM_015018.3	2309	Ctc/Atc	0	1	1	UPI00001C1574	0	NA	ENST00000349129		ENSG00000083097	21194		28	2.12		HGNC	p.L2309I		DOPEY1		SNV							ENST00000349129	protein_coding	getma.org/?cm=var&var=hg19,6,83869642,C,A&fts=all		hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		L/I		A	medium	7185/8210		getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=1360&re=2463&var=L2309I	deleterious(0.01)				YES	DOPEY1,missense_variant,p.Leu2309Ile,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Leu2300Ile,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Leu2193Ile,ENST00000237163,;PGM3,downstream_gene_variant,,ENST00000513973,NM_001199918.1,NM_015599.2;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;PGM3,downstream_gene_variant,,ENST00000504780,;							MODERATE	6925/7398	L2309I	DOP1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000195654		CCDS4996.1			1	
GATA4	0	LGGM	GRCh37	8	11607628	11607628	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	22	3	.	.	ENST00000335135.4:c.792C>A	p.Ser264=	p.S264=	ENST00000335135	NM_002052.3	264	tcC/tcA	0	1	1	UPI00001B3DC4	0		ENST00000335135		ENSG00000136574	4173		25			HGNC	p.S58S		GATA4		SNV			1				ENST00000528712	protein_coding			Superfamily_domains:SSF57716,PIRSF_domain:PIRSF003028,Gene3D:3.30.50.10,hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF154,PROSITE_profiles:PS50114		S		A		1350/3414				R4GND5_HUMAN,E9PRI5_HUMAN,E9PKS4_HUMAN,B3KUF4_HUMAN,B2ZBW1_HUMAN			YES	GATA4,synonymous_variant,p.=,ENST00000335135,NM_002052.3;GATA4,synonymous_variant,p.=,ENST00000528712,;GATA4,synonymous_variant,p.=,ENST00000532059,;GATA4,synonymous_variant,p.=,ENST00000526716,;							LOW	792/1329		GATA4_HUMAN			Transcript			.	ENSP00000334458		CCDS5983.1			1	
PCDHAC1	0	LGGM	GRCh37	5	140307572	140307572	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	29	3	.	.	ENST00000253807.2:c.1095G>T	p.Lys365Asn	p.K365N	ENST00000253807	NM_018898.3	365	aaG/aaT	0	1	1	UPI000013CDF7	0	getma.org/pdb.php?prot=PCDC1_HUMAN&from=346&to=436&var=K365N	ENST00000253807		ENSG00000248383	8676		32	0.955		HGNC	p.K365N		PCDHAC1		SNV							ENST00000409700	protein_coding	getma.org/?cm=var&var=hg19,5,140307572,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,SMART_domains:SM00112,Superfamily_domains:SSF49313		K/N		T	low	1095/5299		getma.org/?cm=msa&ty=f&p=PCDC1_HUMAN&rb=346&re=436&var=K365N	tolerated(0.55)				YES	PCDHAC1,missense_variant,p.Lys365Asn,ENST00000253807,NM_018898.3;PCDHAC1,missense_variant,p.Lys365Asn,ENST00000409700,NM_031882.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;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;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,;							MODERATE	1095/2892	K365N	PCDC1_HUMAN			Transcript		benign(0.052)	.	ENSP00000253807		CCDS4241.1			1	
RIMS1	0	LGGM	GRCh37	6	72806790	72806790	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	44	3	.	.	ENST00000521978.1:c.384C>A	p.Cys128Ter	p.C128*	ENST00000521978	NM_014989.5	128	tgC/tgA	0	1	1	UPI00001908FB	0	NA	ENST00000521978		ENSG00000079841	17282		47	0		HGNC	p.C128X	COSM337987	RIMS1		SNV			1			1	ENST00000517960	protein_coding	getma.org/?cm=var&var=hg19,6,72806790,C,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF02318,PROSITE_profiles:PS50178,PROSITE_profiles:PS50916,hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19,Superfamily_domains:SSF57903		C/*		A	NA	384/5079		NA					YES	RIMS1,stop_gained,p.Cys128Ter,ENST00000264839,;RIMS1,stop_gained,p.Cys128Ter,ENST00000348717,;RIMS1,stop_gained,p.Cys128Ter,ENST00000521978,NM_014989.5;RIMS1,stop_gained,p.Cys128Ter,ENST00000491071,;RIMS1,stop_gained,p.Cys128Ter,ENST00000520567,;RIMS1,stop_gained,p.Cys128Ter,ENST00000517960,;RIMS1,stop_gained,p.Cys128Ter,ENST00000518273,;RIMS1,stop_gained,p.Cys128Ter,ENST00000522291,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;					1		HIGH	384/5079	C128*	RIMS1_HUMAN			Transcript			.	ENSP00000428417		CCDS47449.1			1	
PPP1R26	0	LGGM	GRCh37	9	138378833	138378833	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	31	3	.	.	ENST00000356818.2:c.2477A>T	p.Asp826Val	p.D826V	ENST00000356818	NM_014811.3	826	gAt/gTt	0	1	1	UPI000013DB17	0	NA	ENST00000356818		ENSG00000196422	29089		34	1.32		HGNC	p.D826V		PPP1R26		SNV							ENST00000356818	protein_coding	getma.org/?cm=var&var=hg19,9,138378833,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15724		D/V		T	low	3026/4932		getma.org/?cm=msa&ty=f&p=PPR26_HUMAN&rb=801&re=1000&var=D826V	deleterious(0)	Q5T8A6_HUMAN			YES	PPP1R26,missense_variant,p.Asp826Val,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Asp826Val,ENST00000401470,;PPP1R26,missense_variant,p.Asp826Val,ENST00000605286,;PPP1R26,missense_variant,p.Asp826Val,ENST00000604351,;PPP1R26,missense_variant,p.Asp826Val,ENST00000605660,;PPP1R26,intron_variant,,ENST00000602993,;							MODERATE	2477/3630	D826V	PPR26_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000349274		CCDS6988.1			1	
C18orf25	0	LGGM	GRCh37	18	43842948	43842948	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	25	3	.	.	ENST00000282059.6:c.1079C>G	p.Ser360Trp	p.S360W	ENST00000282059	NM_145055.3	360	tCg/tGg	0	1	1	UPI000013DCB6	0	NA	ENST00000282059		ENSG00000152242	28172		28	1.04		HGNC	p.S360W		C18orf25		SNV							ENST00000282059	protein_coding	getma.org/?cm=var&var=hg19,18,43842948,C,G&fts=all		hmmpanther:PTHR13644		S/W		G	low	1453/5454		getma.org/?cm=msa&ty=f&p=CR025_HUMAN&rb=1&re=401&var=S360W		Q5BIX2_HUMAN,K7ER64_HUMAN,K7EQH1_HUMAN			YES	C18orf25,missense_variant,p.Ser360Trp,ENST00000282059,NM_145055.3;C18orf25,missense_variant,p.Ser299Trp,ENST00000321319,NM_001008239.2;							MODERATE	1079/1212	S360W	CR025_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000282059		CCDS42430.1			1	
SLC44A1	0	LGGM	GRCh37	9	108072143	108072143	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	42	3	.	.	ENST00000374720.3:c.265C>A	p.Arg89=	p.R89=	ENST00000374720	NM_080546.3	89	Cgg/Agg	0	1	1	UPI0000062328	0		ENST00000374720		ENSG00000070214	18798		45			HGNC	p.R89R		SLC44A1		SNV							ENST00000470972	protein_coding			hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF35		R		A		512/10511				B3KMS7_HUMAN			YES	SLC44A1,synonymous_variant,p.=,ENST00000374720,NM_080546.3;SLC44A1,synonymous_variant,p.=,ENST00000374723,NM_001286730.1;SLC44A1,synonymous_variant,p.=,ENST00000374724,;SLC44A1,non_coding_transcript_exon_variant,,ENST00000607692,;SLC44A1,synonymous_variant,p.=,ENST00000470972,;							LOW	265/1974		CTL1_HUMAN			Transcript			.	ENSP00000363852		CCDS6763.1			1	
DAAM2	0	LGGM	GRCh37	6	39855333	39855333	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	36	3	.	.	ENST00000398904.2:c.2025C>T	p.Gly675=	p.G675=	ENST00000398904		675	ggC/ggT	0	1		UPI000020DC88	0		ENST00000274867		ENSG00000146122	18143		39			HGNC	p.G675G		DAAM2		SNV							ENST00000538976	protein_coding			PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		G		T		2181/6194								DAAM2,synonymous_variant,p.=,ENST00000538976,NM_015345.3;DAAM2,synonymous_variant,p.=,ENST00000398904,;DAAM2,synonymous_variant,p.=,ENST00000274867,NM_001201427.1;RP11-61I13.3,non_coding_transcript_exon_variant,,ENST00000607675,;RP11-61I13.3,upstream_gene_variant,,ENST00000607215,;RP11-61I13.3,downstream_gene_variant,,ENST00000430595,;RP11-61I13.3,downstream_gene_variant,,ENST00000606829,;RP11-61I13.3,downstream_gene_variant,,ENST00000420293,;DAAM2,non_coding_transcript_exon_variant,,ENST00000496787,;							LOW	2025/3207		DAAM2_HUMAN			Transcript			.	ENSP00000274867		CCDS56426.1			1	
PMPCB	0	LGGM	GRCh37	7	102950782	102950782	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	41	3	.	.	ENST00000249269.4:c.1014C>A	p.Ala338=	p.A338=	ENST00000249269	NM_004279.2	338	gcC/gcA	0	1	1	UPI00000712F7	0		ENST00000249269		ENSG00000105819	9119		44			HGNC	p.A338A		PMPCB		SNV							ENST00000249269	protein_coding			Gene3D:3.30.830.10,Pfam_domain:PF05193,hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF103,Superfamily_domains:SSF63411		A		A		1052/2472							YES	PMPCB,synonymous_variant,p.=,ENST00000249269,NM_004279.2;PMPCB,synonymous_variant,p.=,ENST00000420236,;PMPCB,synonymous_variant,p.=,ENST00000428154,;DNAJC2,downstream_gene_variant,,ENST00000379263,NM_014377.1;DNAJC2,downstream_gene_variant,,ENST00000249270,NM_001129887.1;PMPCB,3_prime_UTR_variant,,ENST00000444457,;PMPCB,3_prime_UTR_variant,,ENST00000453466,;PMPCB,3_prime_UTR_variant,,ENST00000443722,;PMPCB,3_prime_UTR_variant,,ENST00000456433,;DNAJC2,downstream_gene_variant,,ENST00000492497,;DNAJC2,downstream_gene_variant,,ENST00000475065,;DNAJC2,downstream_gene_variant,,ENST00000464253,;PMPCB,upstream_gene_variant,,ENST00000469560,;PMPCB,downstream_gene_variant,,ENST00000498530,;							LOW	1014/1470		MPPB_HUMAN			Transcript			.	ENSP00000249269		CCDS5730.1			1	
MYO10	0	LGGM	GRCh37	5	16701799	16701799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	24	3	.	.	ENST00000513610.1:c.2705G>A	p.Arg902His	p.R902H	ENST00000513610	NM_012334.2	902	cGc/cAc	0	1	1	UPI0001597062	0	NA	ENST00000513610		ENSG00000145555	7593		27	0.895		HGNC	p.R902H	rs770759156	MYO10		SNV							ENST00000513610	protein_coding	getma.org/?cm=var&var=hg19,5,16701799,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140		R/H		T	low	3160/8038	1.52E-05	getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=900&re=1099&var=R902H	deleterious_low_confidence(0.04)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Arg902His,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Arg241His,ENST00000515803,;MYO10,missense_variant,p.Arg259His,ENST00000274203,;MYO10,missense_variant,p.Arg259His,ENST00000427430,;MYO10,missense_variant,p.Arg241His,ENST00000505695,;MYO10,downstream_gene_variant,,ENST00000513882,;MYO10,downstream_gene_variant,,ENST00000512061,;MYO10,downstream_gene_variant,,ENST00000506343,;MYO10,downstream_gene_variant,,ENST00000510401,;							MODERATE	2705/6177	R902H	MYO10_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000421280	8.26E-06	CCDS54834.1			1	
FXYD5	0	LGGM	GRCh37	19	35646470	35646470	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	37	3	.	.	ENST00000342879.3:c.17G>T	p.Arg6Leu	p.R6L	ENST00000342879		6	cGc/cTc	0	1	1	UPI0000048F47	0	NA	ENST00000342879		ENSG00000089327	4029		40	0.895		HGNC	p.R6L		FXYD5		SNV							ENST00000342879	protein_coding	getma.org/?cm=var&var=hg19,19,35646470,G,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR14132,hmmpanther:PTHR14132:SF14		R/L		T	low	795/1580		getma.org/?cm=msa&ty=f&p=FXYD5_HUMAN&rb=1&re=128&var=R6L	tolerated(0.06)				YES	FXYD5,missense_variant,p.Arg6Leu,ENST00000342879,;FXYD5,missense_variant,p.Arg6Leu,ENST00000543307,;FXYD5,missense_variant,p.Arg6Leu,ENST00000588699,;FXYD5,missense_variant,p.Arg6Leu,ENST00000541435,NM_144779.2;FXYD5,missense_variant,p.Arg6Leu,ENST00000423817,NM_001164605.1;FXYD5,missense_variant,p.Arg6Leu,ENST00000392219,NM_014164.5;FXYD5,missense_variant,p.Arg6Leu,ENST00000590686,;FXYD5,missense_variant,p.Arg6Leu,ENST00000392218,;FXYD7,downstream_gene_variant,,ENST00000270310,NM_022006.1;FXYD7,downstream_gene_variant,,ENST00000588265,;FXYD7,downstream_gene_variant,,ENST00000586063,;CTD-2527I21.4,downstream_gene_variant,,ENST00000592174,;FXYD5,missense_variant,p.Arg6Leu,ENST00000592290,;FXYD5,missense_variant,p.Arg6Leu,ENST00000496493,;							MODERATE	17/537	R6L	FXYD5_HUMAN			Transcript		benign(0.097)	.	ENSP00000344254		CCDS12447.1			1	
VWA8	0	LGGM	GRCh37	13	42259356	42259356	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	32	3	.	.	ENST00000379310.3:c.4154G>A	p.Trp1385Ter	p.W1385*	ENST00000379310	NM_015058.1	1385	tGg/tAg	0	1	1	UPI00001606AC	0	NA	ENST00000379310		ENSG00000102763	29071		35	0		HGNC	p.W1385X		VWA8		SNV							ENST00000379310	protein_coding	getma.org/?cm=var&var=hg19,13,42259356,C,T&fts=all		hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9		W/*		T	NA	4223/7147		NA					YES	VWA8,stop_gained,p.Trp1385Ter,ENST00000379310,NM_015058.1;VWA8,downstream_gene_variant,,ENST00000478987,;							HIGH	4154/5718	W1385*	VWA8_HUMAN			Transcript			.	ENSP00000368612		CCDS41881.1			1	
LYST	0	LGGM	GRCh37	1	235972394	235972394	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	78	4	.	.	ENST00000389794.3:c.1724C>A	p.Ser575Ter	p.S575*	ENST00000389794		575	tCg/tAg	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		82	0		HGNC	p.S575X		LYST		SNV			1				ENST00000389794	protein_coding	getma.org/?cm=var&var=hg19,1,235972394,G,T&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,Superfamily_domains:SSF48371		S/*		T	NA	1899/13471		NA						LYST,stop_gained,p.Ser575Ter,ENST00000389794,;LYST,stop_gained,p.Ser575Ter,ENST00000389793,NM_000081.3;LYST,stop_gained,p.Ser575Ter,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;							HIGH	1724/11406	S575*	LYST_HUMAN			Transcript			.	ENSP00000374443		CCDS31062.1			1	
LIN54	0	LGGM	GRCh37	4	83905613	83905613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	70	4	.	.	ENST00000340417.3:c.385G>T	p.Gly129Cys	p.G129C	ENST00000340417	NM_194282.2	129	Ggc/Tgc	0	1	1	UPI00001D75DE	0	NA	ENST00000340417		ENSG00000189308	25397		74	0.895		HGNC	p.G129C		LIN54		SNV							ENST00000395283	protein_coding	getma.org/?cm=var&var=hg19,4,83905613,C,A&fts=all		hmmpanther:PTHR12446,hmmpanther:PTHR12446:SF2		G/C		A	low	763/6127		getma.org/?cm=msa&ty=f&p=LIN54_HUMAN&rb=1&re=200&var=G129C	deleterious_low_confidence(0.01)				YES	LIN54,missense_variant,p.Gly129Cys,ENST00000340417,NM_194282.2;LIN54,missense_variant,p.Gly129Cys,ENST00000395282,;LIN54,missense_variant,p.Gly129Cys,ENST00000395283,;LIN54,missense_variant,p.Gly129Cys,ENST00000506560,;LIN54,missense_variant,p.Gly129Cys,ENST00000505397,;LIN54,intron_variant,,ENST00000442461,NM_001115008.1;LIN54,intron_variant,,ENST00000446851,;LIN54,intron_variant,,ENST00000510557,NM_001115007.1;LIN54,non_coding_transcript_exon_variant,,ENST00000509748,;LIN54,missense_variant,p.Gly129Cys,ENST00000508171,;LIN54,intron_variant,,ENST00000510877,;							MODERATE	385/2250	G129C	LIN54_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000341947		CCDS3599.1			1	
FAM186B	0	LGGM	GRCh37	12	49997062	49997062	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	11	4	.	.	ENST00000257894.2:c.411G>T	p.Val137=	p.V137=	ENST00000257894	NM_032130.2	137	gtG/gtT	0	1	1	UPI000007077C	0		ENST00000257894		ENSG00000135436	25296		15			HGNC	p.V47V		FAM186B		SNV							ENST00000544141	protein_coding					V		A		573/2944							YES	FAM186B,synonymous_variant,p.=,ENST00000544141,;FAM186B,synonymous_variant,p.=,ENST00000257894,NM_032130.2;FAM186B,synonymous_variant,p.=,ENST00000551047,;PRPF40B,intron_variant,,ENST00000551063,;FAM186B,upstream_gene_variant,,ENST00000532262,;FAM186B,upstream_gene_variant,,ENST00000548841,;PRPF40B,intron_variant,,ENST00000508736,;PRPF40B,intron_variant,,ENST00000527253,;PRPF40B,downstream_gene_variant,,ENST00000547764,;FAM186B,3_prime_UTR_variant,,ENST00000533372,;							LOW	411/2682		F186B_HUMAN			Transcript			.	ENSP00000257894		CCDS8788.1			1	
CSPP1	0	LGGM	GRCh37	8	68015342	68015342	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	12	4	.	.	ENST00000262210.5:c.1021A>G	p.Ile341Val	p.I341V	ENST00000262210	NM_024790.6	341	Ata/Gta	0	1	1	UPI00005A95D7	0	NA	ENST00000262210		ENSG00000104218	26193		16	0.805		HGNC	p.I47V		CSPP1		SNV			1				ENST00000412460	protein_coding	getma.org/?cm=var&var=hg19,8,68015342,A,G&fts=all		hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616		I/V		G	low	1052/4367		getma.org/?cm=msa&ty=f&p=CSPP1_HUMAN&rb=201&re=400&var=I376V	tolerated(1)				YES	CSPP1,missense_variant,p.Ile341Val,ENST00000262210,NM_024790.6;CSPP1,missense_variant,p.Ile47Val,ENST00000412460,;CSPP1,missense_variant,p.Ile47Val,ENST00000519668,;RNA5SP268,downstream_gene_variant,,ENST00000516828,;CSPP1,missense_variant,p.Ile340Val,ENST00000519163,;							MODERATE	1021/3666	I376V	CSPP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000262210		CCDS43744.1			1	
FGGY	0	LGGM	GRCh37	1	59787331	59787331	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	40	4	.	.	ENST00000371218.4:c.110C>T	p.Ala37Val	p.A37V	ENST00000371218	NM_001113411.1	37	gCa/gTa	0	1		UPI000004E9CB	0	getma.org/pdb.php?prot=FGGY_HUMAN&from=11&to=267&var=A37V	ENST00000303721		ENSG00000172456	25610		44	3.03		HGNC	p.A37V		FGGY		SNV			1				ENST00000582567	protein_coding	getma.org/?cm=var&var=hg19,1,59787331,C,T&fts=all		hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF10,Pfam_domain:PF00370,Gene3D:3.30.420.40,TIGRFAM_domain:TIGR01315,PIRSF_domain:PIRSF000538,Superfamily_domains:SSF53067		A/V		T	medium	284/1976		getma.org/?cm=msa&ty=f&p=FGGY_HUMAN&rb=11&re=267&var=A37V	deleterious(0.01)	Q9NV20_HUMAN,J3QKV9_HUMAN,C9J015_HUMAN				FGGY,missense_variant,p.Ala37Val,ENST00000371218,NM_001113411.1;FGGY,missense_variant,p.Ala37Val,ENST00000303721,NM_018291.3;FGGY,missense_variant,p.Ala37Val,ENST00000371212,NM_001244714.1;FGGY,missense_variant,p.Ala37Val,ENST00000413489,;FGGY,missense_variant,p.Ala37Val,ENST00000582567,;FGGY,non_coding_transcript_exon_variant,,ENST00000462744,;FGGY,intron_variant,,ENST00000474476,;FGGY,missense_variant,p.Ala37Val,ENST00000430447,;FGGY,non_coding_transcript_exon_variant,,ENST00000495718,;							MODERATE	110/1656	A37V	FGGY_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000305922		CCDS611.2			1	
P2RX3	0	LGGM	GRCh37	11	57114647	57114647	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	16	4	.	.	ENST00000263314.2:c.313G>T	p.Gly105Ter	p.G105*	ENST00000263314	NM_002559.3	105	Gga/Tga	0	1	1	UPI00000342EB	0	NA	ENST00000263314		ENSG00000109991	8534		20	0		HGNC	p.G105X		P2RX3		SNV							ENST00000263314	protein_coding	getma.org/?cm=var&var=hg19,11,57114647,G,T&fts=all		Gene3D:3h9vA02,Pfam_domain:PF00864,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF8,TIGRFAM_domain:TIGR00863		G/*		T	NA	347/1831		NA		H0YDR6_HUMAN			YES	P2RX3,stop_gained,p.Gly105Ter,ENST00000263314,NM_002559.3;P2RX3,upstream_gene_variant,,ENST00000534820,;							HIGH	313/1194	G105*	P2RX3_HUMAN			Transcript			.	ENSP00000263314		CCDS7953.1			1	
STRC	0	LGGM	GRCh37	15	43910184	43910184	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	27	7	.	.	ENST00000450892.2:c.435G>T	p.Leu145=	p.L145=	ENST00000450892	NM_153700.2	145	ctG/ctT	0	1	1	UPI000013E60F	0		ENST00000450892		ENSG00000242866	16035		34			HGNC	p.L145L	rs764960804	STRC		SNV			1				ENST00000450892	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		L		A		513/5680	6.15E-05			E7EPM8_HUMAN			YES	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;snoU13,downstream_gene_variant,,ENST00000459277,;STRC,synonymous_variant,p.=,ENST00000428650,;STRC,synonymous_variant,p.=,ENST00000440125,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000483250,;STRC,upstream_gene_variant,,ENST00000470279,;							LOW	435/5328		STRC_HUMAN			Transcript			.	ENSP00000401513	3.31E-05	CCDS10098.1			1	
OLFML1	0	LGGM	GRCh37	11	7507173	7507173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	29	6	.	.	ENST00000329293.3:c.67C>T	p.Pro23Ser	p.P23S	ENST00000329293	NM_198474.3	23	Ccg/Tcg	0	1	1	UPI0000161991	0	NA	ENST00000329293		ENSG00000183801	24473		35	1.355		HGNC	p.P23S		OLFML1		SNV							ENST00000530135	protein_coding	getma.org/?cm=var&var=hg19,11,7507173,C,T&fts=all		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23192:SF13,hmmpanther:PTHR23192		P/S		T	low	461/2792		getma.org/?cm=msa&ty=f&p=OLFL1_HUMAN&rb=1&re=143&var=P23S	tolerated(0.24)				YES	OLFML1,missense_variant,p.Pro23Ser,ENST00000329293,NM_198474.3;OLFML1,missense_variant,p.Pro23Ser,ENST00000530135,;OLFML1,missense_variant,p.Pro23Ser,ENST00000528758,;OLFML1,missense_variant,p.Pro23Ser,ENST00000534244,;CTD-2516F10.2,intron_variant,,ENST00000530201,;OLFML1,non_coding_transcript_exon_variant,,ENST00000528308,;							MODERATE	67/1209	P23S	OLFL1_HUMAN			Transcript		benign(0.073)	.	ENSP00000332511		CCDS7779.1			1	
SERPINB4	0	LGGM	GRCh37	18	61308127	61308127	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	19	6	.	.	ENST00000341074.5:c.450G>A	p.Trp150Ter	p.W150*	ENST00000341074	NM_002974.2	150	tgG/tgA	0	1	1	UPI0000038A1A	0	NA	ENST00000341074		ENSG00000206073	10570		25	0		HGNC	p.W150X		SERPINB4		SNV							ENST00000341074	protein_coding	getma.org/?cm=var&var=hg19,18,61308127,C,T&fts=all		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		W/*		T	NA	566/1749		NA					YES	SERPINB4,stop_gained,p.Trp150Ter,ENST00000341074,NM_002974.2;SERPINB4,stop_gained,p.Trp150Ter,ENST00000356424,;SERPINB4,stop_gained,p.Trp152Ter,ENST00000413673,;SERPINB4,stop_gained,p.Trp107Ter,ENST00000436264,;SERPINB4,downstream_gene_variant,,ENST00000498496,;							HIGH	450/1173	W150*	SPB4_HUMAN			Transcript			.	ENSP00000343445		CCDS11986.1			1	
ABI3BP	0	LGGM	GRCh37	3	100593752	100593752	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	29	8	.	.	ENST00000284322.5:c.864T>C	p.Asn288=	p.N288=	ENST00000284322	NM_015429.3	288	aaT/aaC	0	1	1	UPI000011C136	0		ENST00000284322		ENSG00000154175	17265		37			HGNC	p.N288N		ABI3BP		SNV							ENST00000495063	protein_coding			hmmpanther:PTHR23197		N		G		974/4498							YES	ABI3BP,synonymous_variant,p.=,ENST00000471714,;ABI3BP,synonymous_variant,p.=,ENST00000284322,NM_015429.3;ABI3BP,synonymous_variant,p.=,ENST00000495063,;ABI3BP,synonymous_variant,p.=,ENST00000483129,;ABI3BP,downstream_gene_variant,,ENST00000527258,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000475896,;							LOW	864/3228		TARSH_HUMAN			Transcript			.	ENSP00000284322		CCDS46880.1			1	
ZNF232	0	LGGM	GRCh37	17	5009727	5009727	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	7	9	.	.	ENST00000250076.3:c.727C>G	p.Gln243Glu	p.Q243E	ENST00000250076	NM_014519.2	243	Cag/Gag	0	1	1	UPI00001D69EB	0	NA	ENST00000250076		ENSG00000167840	13026		16	0.895		HGNC	p.Q243E		ZNF232		SNV							ENST00000250076	protein_coding	getma.org/?cm=var&var=hg19,17,5009727,G,C&fts=all		hmmpanther:PTHR23226:SF54,hmmpanther:PTHR23226		Q/E		C	low	1382/2179		getma.org/?cm=msa&ty=f&p=ZN232_HUMAN&rb=141&re=289&var=Q216E	tolerated(0.49)				YES	ZNF232,missense_variant,p.Gln243Glu,ENST00000250076,NM_014519.2;ZNF232,missense_variant,p.Gln234Glu,ENST00000575898,;ZNF232,3_prime_UTR_variant,,ENST00000416429,;ZNF232,non_coding_transcript_exon_variant,,ENST00000575538,;ZNF232,3_prime_UTR_variant,,ENST00000570486,;ZNF232,3_prime_UTR_variant,,ENST00000573015,;ZNF232,non_coding_transcript_exon_variant,,ENST00000574735,;ZNF232,non_coding_transcript_exon_variant,,ENST00000572468,;ZNF232,downstream_gene_variant,,ENST00000571076,;							MODERATE	727/1335	Q216E	ZN232_HUMAN			Transcript		benign(0.092)	.	ENSP00000250076		CCDS11068.1			1	
TP53	0	LGGM	GRCh37	17	7579523	7579531	+	inframe_deletion	In_Frame_Del	DEL	GTGAACCAT	GTGAACCAT	-	novel	by Submitter	H072623	H072623N.bam	GTGAACCAT	GTGAACCAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	14	9	.	.	ENST00000269305.4:c.156_164del	p.Gln52_Thr55delinsHis	p.Q52_T55delinsH	ENST00000269305	NM_001126112.2	52	caATGGTTCACt/cat	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		23			HGNC	p.52_55del		TP53		deletion			1				ENST00000508793	protein_coding			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6		QWFT/H		-		346-354/2579				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			YES	TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000445888,;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000359597,;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000413465,;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000508793,;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000604348,;TP53,inframe_deletion,p.Gln52_Thr55delinsHis,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;							MODERATE	156-164/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
TP53	0	LGGM	GRCh37	17	7579511	7579521	+	frameshift_variant	Frame_Shift_Del	DEL	CCTGGGTCTTC	CCTGGGTCTTC	-	novel	by Submitter	H072623	H072623N.bam	CCTGGGTCTTC	CCTGGGTCTTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	15	9	.	.	ENST00000269305.4:c.166_176del	p.Glu56SerfsTer3	p.E56Sfs*3	ENST00000269305	NM_001126112.2	56	GAAGACCCAGGt/t	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		24			HGNC	p.56_59del		TP53		deletion			1				ENST00000508793	protein_coding			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6		EDPG/X		-		356-366/2579				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			YES	TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000445888,;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000359597,;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000413465,;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000508793,;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000604348,;TP53,frameshift_variant,p.Glu56SerfsTer3,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;							HIGH	166-176/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
AMPD3	0	LGGM	GRCh37	11	10503773	10503773	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	14	10	.	.	ENST00000396554.3:c.616+1G>A		p.X206_splice	ENST00000396554	NM_000480.2			0	1		UPI0000125959	0		ENST00000396553		ENSG00000133805	470		24			HGNC	-		AMPD3		SNV			1				ENST00000444303	protein_coding							A		-/3680				E9PPG2_HUMAN,E9PLK6_HUMAN				AMPD3,splice_donor_variant,,ENST00000444303,NM_001172431.1;AMPD3,splice_donor_variant,,ENST00000396554,NM_000480.2;AMPD3,splice_donor_variant,,ENST00000396553,NM_001025389.1;AMPD3,splice_donor_variant,,ENST00000529507,NM_001172430.1;AMPD3,splice_donor_variant,,ENST00000528723,NM_001025390.1;AMPD3,splice_donor_variant,,ENST00000524866,;AMPD3,downstream_gene_variant,,ENST00000532250,;AMPD3,downstream_gene_variant,,ENST00000529835,;AMPD3,splice_donor_variant,,ENST00000534047,;AMPD3,splice_donor_variant,,ENST00000529834,;AMPD3,splice_donor_variant,,ENST00000531227,;							HIGH	589/2304		AMPD3_HUMAN			Transcript			.	ENSP00000379801		CCDS41617.1			1	
HAP1	0	LGGM	GRCh37	17	39882149	39882149	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	20	11	.	.	ENST00000347901.4:c.1368G>T	p.Arg456Ser	p.R456S	ENST00000347901	NM_177977.2	456	agG/agT	0	1		UPI00001AEF7E	0	NA	ENST00000310778		ENSG00000173805	4812		31	0.895		HGNC	p.R456S		HAP1		SNV							ENST00000347901	protein_coding	getma.org/?cm=var&var=hg19,17,39882149,C,A&fts=all		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF14		R/S		A	low	1534/4087		getma.org/?cm=msa&ty=f&p=HAP1_HUMAN&rb=462&re=661&var=R508S	deleterious(0.02)					HAP1,missense_variant,p.Arg431Ser,ENST00000393939,;HAP1,missense_variant,p.Arg508Ser,ENST00000310778,;HAP1,missense_variant,p.Arg456Ser,ENST00000347901,NM_177977.2;HAP1,missense_variant,p.Arg439Ser,ENST00000341193,NM_001079870.1,NM_001079871.1;HAP1,coding_sequence_variant,p.=,ENST00000455021,;JUP,intron_variant,,ENST00000540235,;HAP1,upstream_gene_variant,,ENST00000458656,;HAP1,upstream_gene_variant,,ENST00000442364,;RN7SL399P,downstream_gene_variant,,ENST00000471648,;							MODERATE	1524/2016	R508S	HAP1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000309392					1	
HDLBP	0	LGGM	GRCh37	2	242202187	242202187	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	27	11	.	.	ENST00000391975.1:c.389C>G	p.Ser130Ter	p.S130*	ENST00000391975	NM_203346.3	130	tCa/tGa	0	1	1	UPI00001AEF85	0	NA	ENST00000391975		ENSG00000115677	4857		38	0		HGNC	p.S130X		HDLBP		SNV							ENST00000310931	protein_coding	getma.org/?cm=var&var=hg19,2,242202187,G,C&fts=all		hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627		S/*		C	NA	617/6372		NA		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			YES	HDLBP,stop_gained,p.Ser130Ter,ENST00000391975,NM_203346.3;HDLBP,stop_gained,p.Ser130Ter,ENST00000310931,NM_005336.4;HDLBP,stop_gained,p.Ser130Ter,ENST00000391976,;HDLBP,stop_gained,p.Ser166Ter,ENST00000427183,NM_001243900.1;HDLBP,stop_gained,p.Ser8Ter,ENST00000373292,;HDLBP,stop_gained,p.Ser130Ter,ENST00000428482,;HDLBP,stop_gained,p.Ser31Ter,ENST00000453141,;HDLBP,stop_gained,p.Ser130Ter,ENST00000452065,;HDLBP,stop_gained,p.Ser130Ter,ENST00000422933,;HDLBP,stop_gained,p.Ser130Ter,ENST00000430918,;HDLBP,stop_gained,p.Ser130Ter,ENST00000444092,;HDLBP,intron_variant,,ENST00000442714,;HDLBP,downstream_gene_variant,,ENST00000441124,;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,;							HIGH	389/3807	S130*	VIGLN_HUMAN			Transcript			.	ENSP00000375836		CCDS2547.1			1	
STK24	0	LGGM	GRCh37	13	99127176	99127176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	29	11	.	.	ENST00000376547.3:c.532G>T	p.Ala178Ser	p.A178S	ENST00000376547	NM_003576.3	178	Gct/Tct	0	1	1	UPI000013606E	0	getma.org/pdb.php?prot=STK24_HUMAN&from=36&to=286&var=A178S	ENST00000376547		ENSG00000102572	11403		40	-0.065		HGNC	p.A147S		STK24		SNV							ENST00000539966	protein_coding	getma.org/?cm=var&var=hg19,13,99127176,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF208,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/S		A	neutral	678/2492		getma.org/?cm=msa&ty=f&p=STK24_HUMAN&rb=36&re=286&var=A178S	tolerated(0.36)	Q5JV99_HUMAN			YES	STK24,missense_variant,p.Ala166Ser,ENST00000397517,NM_001032296.2;STK24,missense_variant,p.Ala178Ser,ENST00000376547,NM_003576.3;STK24,missense_variant,p.Ala84Ser,ENST00000444574,;STK24,missense_variant,p.Ala147Ser,ENST00000539966,NM_001286649.1;STK24,non_coding_transcript_exon_variant,,ENST00000491878,;							MODERATE	532/1332	A178S	STK24_HUMAN			Transcript		possibly_damaging(0.585)	.	ENSP00000365730		CCDS9488.1			1	
RC3H2	0	LGGM	GRCh37	9	125621275	125621275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	22	12	.	.	ENST00000373670.1:c.1956G>T	p.Met652Ile	p.M652I	ENST00000373670		652	atG/atT	0	1		UPI0000048D91	0	NA	ENST00000357244		ENSG00000056586	21461		34	0		HGNC	p.M652I		RC3H2		SNV							ENST00000423239	protein_coding	getma.org/?cm=var&var=hg19,9,125621275,C,A&fts=all		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2		M/I		A	neutral	2197/3991		getma.org/?cm=msa&ty=f&p=RC3H2_HUMAN&rb=638&re=837&var=M652I	tolerated(0.39)					RC3H2,missense_variant,p.Met652Ile,ENST00000373670,;RC3H2,missense_variant,p.Met652Ile,ENST00000357244,NM_001100588.1;RC3H2,missense_variant,p.Met652Ile,ENST00000423239,NM_018835.2;RC3H2,upstream_gene_variant,,ENST00000454740,;RC3H2,upstream_gene_variant,,ENST00000398671,;RC3H2,3_prime_UTR_variant,,ENST00000498479,;							MODERATE	1956/3576	M652I	RC3H2_HUMAN			Transcript		benign(0)	.	ENSP00000349783		CCDS43874.1			1	
MTO1	0	LGGM	GRCh37	6	74210435	74210435	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	20	13	.	.	ENST00000415954.2:c.2176A>G	p.Arg726Gly	p.R726G	ENST00000415954	NM_001123226.1	726	Aga/Gga	0	1		UPI000012F816	0	NA	ENST00000370300		ENSG00000135297	19261		33	0		HGNC	p.R686G	rs780656358	MTO1		SNV			1				ENST00000498286	protein_coding	getma.org/?cm=var&var=hg19,6,74210435,A,G&fts=all		hmmpanther:PTHR11806,hmmpanther:PTHR11806:SF3		R/G		G	neutral	2221/2961	1.51E-05	getma.org/?cm=msa&ty=f&p=MTO1_HUMAN&rb=685&re=717&var=R711G	tolerated_low_confidence(0.11)					MTO1,missense_variant,p.Arg686Gly,ENST00000498286,;MTO1,missense_variant,p.Arg711Gly,ENST00000370300,NM_012123.3,NM_133645.2;MTO1,missense_variant,p.Arg726Gly,ENST00000415954,NM_001123226.1;MTO1,missense_variant,p.Arg637Gly,ENST00000370305,;MTO1,3_prime_UTR_variant,,ENST00000521156,;MTO1,3_prime_UTR_variant,,ENST00000415228,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,non_coding_transcript_exon_variant,,ENST00000462039,;MTO1,downstream_gene_variant,,ENST00000523763,;							MODERATE	2131/2154	R711G	MTO1_HUMAN			Transcript		benign(0)	.	ENSP00000359323	8.24E-06	CCDS4979.1			1	
GSR	0	LGGM	GRCh37	8	30557649	30557649	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	23	14	.	.	ENST00000221130.5:c.644C>T	p.Ala215Val	p.A215V	ENST00000221130	NM_000637.3	215	gCc/gTc	0	1	1	UPI000012BBFF	0	getma.org/pdb.php?prot=GSHR_HUMAN&from=66&to=380&var=A215V	ENST00000221130		ENSG00000104687	4623		37	1.89		HGNC	p.A215V		GSR		SNV			1				ENST00000541648	protein_coding	getma.org/?cm=var&var=hg19,8,30557649,G,A&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF106,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01421		A/V		A	low	735/3114		getma.org/?cm=msa&ty=f&p=GSHR_HUMAN&rb=66&re=380&var=A215V	deleterious(0.03)	E5RI06_HUMAN			YES	GSR,missense_variant,p.Ala215Val,ENST00000221130,NM_000637.3,NM_001195102.1,NM_001195103.1;GSR,missense_variant,p.Ala172Val,ENST00000414019,;GSR,missense_variant,p.Ala215Val,ENST00000546342,;GSR,missense_variant,p.Ala215Val,ENST00000541648,;GSR,missense_variant,p.Ala215Val,ENST00000537535,NM_001195104.1;GSR,missense_variant,p.Ala171Val,ENST00000520888,;GSR,missense_variant,p.Ala103Val,ENST00000521479,;GSR,intron_variant,,ENST00000523295,;							MODERATE	644/1569	A215V	GSHR_HUMAN			Transcript		possibly_damaging(0.773)	.	ENSP00000221130		CCDS34877.1			1	
PCDHB11	0	LGGM	GRCh37	5	140579541	140579541	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	24	14	.	.	ENST00000354757.3:c.194G>T	p.Arg65Leu	p.R65L	ENST00000354757	NM_018931.2	65	cGg/cTg	0	1	1	UPI00001273E6	0	getma.org/pdb.php?prot=PCDBB_HUMAN&from=29&to=112&var=R65L	ENST00000354757		ENSG00000197479	8682		38	3.555		HGNC	p.R65L		PCDHB11		SNV							ENST00000354757	protein_coding	getma.org/?cm=var&var=hg19,5,140579541,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/L		T	high	194/3271		getma.org/?cm=msa&ty=f&p=PCDBB_HUMAN&rb=29&re=112&var=R65L	deleterious_low_confidence(0)	B4DSF7_HUMAN			YES	PCDHB11,missense_variant,p.Arg65Leu,ENST00000354757,NM_018931.2;PCDHB11,intron_variant,,ENST00000536699,;PCDHB10,downstream_gene_variant,,ENST00000239446,NM_018930.3;							MODERATE	194/2394	R65L	PCDBB_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000346802		CCDS4253.1			1	
SLC18A1	0	LGGM	GRCh37	8	20036930	20036930	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	12	14	.	.	ENST00000440926.1:c.190G>A	p.Gly64Ser	p.G64S	ENST00000440926	NM_001135691.2	64	Ggc/Agc	0	1		UPI00001389CE	0	NA	ENST00000276373		ENSG00000036565	10934	8.64E-05	26	1.445		HGNC	p.G64S	rs750496793,COSM3898694	SLC18A1		SNV						0,1	ENST00000440926	protein_coding	getma.org/?cm=var&var=hg19,8,20036930,C,T&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF71		G/S		T	low	457/2753		getma.org/?cm=msa&ty=f&p=VMAT1_HUMAN&rb=1&re=76&var=G64S	tolerated(0.68)					SLC18A1,missense_variant,p.Gly64Ser,ENST00000440926,NM_001135691.2;SLC18A1,missense_variant,p.Gly64Ser,ENST00000437980,NM_001142325.1;SLC18A1,missense_variant,p.Gly64Ser,ENST00000265808,NM_001142324.1;SLC18A1,missense_variant,p.Gly64Ser,ENST00000276373,NM_003053.3;SLC18A1,missense_variant,p.Gly64Ser,ENST00000519026,;SLC18A1,missense_variant,p.Gly64Ser,ENST00000381608,;SLC18A1,missense_variant,p.Gly64Ser,ENST00000522513,;SLC18A1,upstream_gene_variant,,ENST00000524272,;SLC18A1,missense_variant,p.Gly64Ser,ENST00000517776,;					0,1		MODERATE	190/1578	G64S	VMAT1_HUMAN			Transcript		benign(0.002)	.	ENSP00000276373	8.24E-06	CCDS6013.1			1	
DPP4	0	LGGM	GRCh37	2	162902109	162902109	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072623	H072623N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	44	14	.	.	ENST00000360534.3:c.299A>G	p.His100Arg	p.H100R	ENST00000360534	NM_001935.3	100	cAt/cGt	0	1	1	UPI000004F7BF	0	getma.org/pdb.php?prot=DPP4_HUMAN&from=1&to=107&var=H100R	ENST00000360534		ENSG00000197635	3009		58	1.7		HGNC	p.H99R		DPP4		SNV							ENST00000434918	protein_coding	getma.org/?cm=var&var=hg19,2,162902109,T,C&fts=all		Gene3D:2.140.10.30,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF93,Superfamily_domains:SSF82171		H/R		C	low	860/3904		getma.org/?cm=msa&ty=f&p=DPP4_HUMAN&rb=1&re=107&var=H100R	tolerated(0.33)				YES	DPP4,missense_variant,p.His100Arg,ENST00000360534,NM_001935.3;DPP4,non_coding_transcript_exon_variant,,ENST00000497461,;DPP4,missense_variant,p.His99Arg,ENST00000434918,;DPP4,3_prime_UTR_variant,,ENST00000413651,;DPP4,3_prime_UTR_variant,,ENST00000416189,;DPP4,non_coding_transcript_exon_variant,,ENST00000490286,;DPP4,non_coding_transcript_exon_variant,,ENST00000461836,;							MODERATE	299/2301	H100R	DPP4_HUMAN			Transcript		benign(0.005)	.	ENSP00000353731		CCDS2216.1			1	
CORIN	0	LGGM	GRCh37	4	47667248	47667248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072623	H072623N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	34	14	.	.	ENST00000273857.4:c.1390A>G	p.Met464Val	p.M464V	ENST00000273857	NM_006587.3	464	Atg/Gtg	0	1	1	UPI0000168657	0	getma.org/pdb.php?prot=CORIN_HUMAN&from=455&to=571&var=M464V	ENST00000273857		ENSG00000145244	19012		48	1.245		HGNC	p.M325V	rs749117753	CORIN	6.06E-05	SNV			1				ENST00000508498	protein_coding	getma.org/?cm=var&var=hg19,4,47667248,T,C&fts=all		PROSITE_profiles:PS50038,hmmpanther:PTHR24270,Pfam_domain:PF01392,Gene3D:1ijyA00,SMART_domains:SM00063,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF63501		M/V		C	low	1390/4852		getma.org/?cm=msa&ty=f&p=CORIN_HUMAN&rb=455&re=571&var=M464V	deleterious(0.03)	Q8IZR7_HUMAN,E7EQE7_HUMAN			YES	CORIN,missense_variant,p.Met464Val,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Met325Val,ENST00000508498,;CORIN,missense_variant,p.Met397Val,ENST00000502252,NM_001278585.1;CORIN,missense_variant,p.Met427Val,ENST00000505909,;CORIN,missense_variant,p.Met427Val,ENST00000504584,NM_001278586.1;CORIN,non_coding_transcript_exon_variant,,ENST00000503821,;CORIN,upstream_gene_variant,,ENST00000505754,;							MODERATE	1390/3129	M464V	CORIN_HUMAN			Transcript		benign(0.098)	.	ENSP00000273857	8.24E-06	CCDS3477.1			1	
SLC5A1	0	LGGM	GRCh37	22	32498203	32498203	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	27	16	.	.	ENST00000266088.4:c.1644C>G	p.Thr548=	p.T548=	ENST00000266088	NM_000343.3	548	acC/acG	0	1	1	UPI00001359EA	0		ENST00000266088		ENSG00000100170	11036		43			HGNC	p.T548T		SLC5A1		SNV			1				ENST00000266088	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99		T		G		1894/5061				A4QPH0_HUMAN			YES	SLC5A1,synonymous_variant,p.=,ENST00000266088,NM_000343.3;SLC5A1,synonymous_variant,p.=,ENST00000543737,NM_001256314.1;SLC5A1,downstream_gene_variant,,ENST00000477969,;							LOW	1644/1995		SC5A1_HUMAN			Transcript			.	ENSP00000266088		CCDS13902.1			1	
SCN2A	0	LGGM	GRCh37	2	166243437	166243437	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	45	16	.	.	ENST00000357398.3:c.4733G>A	p.Cys1578Tyr	p.C1578Y	ENST00000357398		1578	tGt/tAt	0	1		UPI00001279C9	0	getma.org/pdb.php?prot=SCN2A_HUMAN&from=1565&to=1775&var=C1578Y	ENST00000283256		ENSG00000136531	10588		61	3.535		HGNC	p.C1578Y		SCN2A		SNV			1				ENST00000283256	protein_coding	getma.org/?cm=var&var=hg19,2,166243437,G,A&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		C/Y		A	high	4889/8403		getma.org/?cm=msa&ty=f&p=SCN2A_HUMAN&rb=1565&re=1775&var=C1578Y	deleterious(0)	F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,missense_variant,p.Cys1578Tyr,ENST00000357398,;SCN2A,missense_variant,p.Cys1578Tyr,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Cys1578Tyr,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Cys1578Tyr,ENST00000375427,NM_001040143.1;							MODERATE	4733/6018	C1578Y	SCN2A_HUMAN			Transcript		possibly_damaging(0.551)	.	ENSP00000283256		CCDS33314.1			1	
AP1B1	0	LGGM	GRCh37	22	29745267	29745267	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	29	17	.	.	ENST00000357586.2:c.1377C>T	p.Ile459=	p.I459=	ENST00000357586	NM_001127.3	459	atC/atT	0	1		UPI000013CED0	0		ENST00000405198		ENSG00000100280	554		46			HGNC	p.I459I	rs771230207	AP1B1		SNV				9.67E-05			ENST00000421126	protein_coding			hmmpanther:PTHR11134:SF12,hmmpanther:PTHR11134,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF002291,Superfamily_domains:SSF48371		I		A		1409/3838				C9J1E7_HUMAN				AP1B1,synonymous_variant,p.=,ENST00000357586,NM_001127.3;AP1B1,synonymous_variant,p.=,ENST00000356015,;AP1B1,synonymous_variant,p.=,ENST00000432560,NM_145730.2;AP1B1,synonymous_variant,p.=,ENST00000317368,NM_001166019.1;AP1B1,synonymous_variant,p.=,ENST00000405198,;AP1B1,synonymous_variant,p.=,ENST00000402502,;AP1B1,synonymous_variant,p.=,ENST00000415447,;AP1B1,synonymous_variant,p.=,ENST00000421126,;AP1B1,synonymous_variant,p.=,ENST00000415756,;							LOW	1377/2850		AP1B1_HUMAN			Transcript			.	ENSP00000384194	8.24E-06	CCDS13855.1			1	
RRP1B	0	LGGM	GRCh37	21	45094916	45094916	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	23	17	.	.	ENST00000340648.4:c.421C>T	p.Arg141Ter	p.R141*	ENST00000340648	NM_015056.2	141	Cga/Tga	0	1	1	UPI0000198EE6	0	NA	ENST00000340648		ENSG00000160208	23818		40	0		HGNC	p.R141X		RRP1B		SNV							ENST00000340648	protein_coding	getma.org/?cm=var&var=hg19,21,45094916,C,T&fts=all		hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2,Pfam_domain:PF05997		R/*		T	NA	538/5088		NA					YES	RRP1B,stop_gained,p.Arg141Ter,ENST00000340648,NM_015056.2;							HIGH	421/2277	R141*	RRP1B_HUMAN			Transcript			.	ENSP00000339145		CCDS33577.1			1	
ANKRD30B	0	LGGM	GRCh37	18	14752898	14752898	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	54	19	.	.	ENST00000358984.4:c.397A>T	p.Asn133Tyr	p.N133Y	ENST00000358984	NM_001145029.1	133	Aat/Tat	0	1	1	UPI0000425FF7	0	getma.org/pdb.php?prot=AN30B_HUMAN&from=121&to=202&var=N133Y	ENST00000358984		ENSG00000180777	24165		73	3.34		HGNC	p.N133Y		ANKRD30B		SNV							ENST00000447268	protein_coding	getma.org/?cm=var&var=hg19,18,14752898,A,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403		N/Y		T	medium	577/4359		getma.org/?cm=msa&ty=f&p=AN30B_HUMAN&rb=121&re=202&var=N133Y	deleterious(0)				YES	ANKRD30B,missense_variant,p.Asn133Tyr,ENST00000358984,NM_001145029.1;ANKRD30B,missense_variant,p.Asn133Tyr,ENST00000447268,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Asn133Tyr,ENST00000580206,;							MODERATE	397/4179	N133Y	AN30B_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000351875		CCDS54182.1			1	
LRBA	0	LGGM	GRCh37	4	151792584	151792584	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	21	19	.	.	ENST00000357115.3:c.2280T>C	p.Leu760=	p.L760=	ENST00000357115	NM_006726.4	760	ctT/ctC	0	1	1	UPI000013E35C	0		ENST00000357115		ENSG00000198589	1742		40			HGNC	p.L760L		LRBA		SNV			1				ENST00000510413	protein_coding			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Superfamily_domains:SSF48371		L		G		2524/9899				Q7KZN3_HUMAN			YES	LRBA,synonymous_variant,p.=,ENST00000535741,;LRBA,synonymous_variant,p.=,ENST00000510413,NM_001199282.2;LRBA,synonymous_variant,p.=,ENST00000357115,NM_006726.4;LRBA,synonymous_variant,p.=,ENST00000507224,;							LOW	2280/8592		LRBA_HUMAN			Transcript			.	ENSP00000349629		CCDS3773.1			1	
EYS	0	LGGM	GRCh37	6	66005906	66005906	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	43	19	.	.	ENST00000503581.1:c.1873C>T	p.His625Tyr	p.H625Y	ENST00000503581	NM_001142800.1	625	Cac/Tac	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		62	0		HGNC	p.H625Y		EYS		SNV			1				ENST00000370621	protein_coding	getma.org/?cm=var&var=hg19,6,66005906,G,A&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		H/Y		A	neutral	1873/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=453&re=652&var=H625Y	deleterious(0.03)					EYS,missense_variant,p.His625Tyr,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.His625Tyr,ENST00000370621,;EYS,missense_variant,p.His625Tyr,ENST00000370616,;EYS,non_coding_transcript_exon_variant,,ENST00000370615,;EYS,non_coding_transcript_exon_variant,,ENST00000447127,;							MODERATE	1873/9498	H625Y	EYS_HUMAN			Transcript		benign(0.013)	.	ENSP00000359650					1	
OR5AP2	0	LGGM	GRCh37	11	56409075	56409075	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	13	19	.	.	ENST00000302981.1:c.841T>C	p.Ser281Pro	p.S281P	ENST00000302981	NM_001002925.1	281	Tct/Cct	0	1	1	UPI0000061EE6	0	NA	ENST00000302981		ENSG00000172464	15258		32	3.545		HGNC	p.S281P		OR5AP2		SNV							ENST00000302981	protein_coding	getma.org/?cm=var&var=hg19,11,56409075,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/P		G	high	841/951		getma.org/?cm=msa&ty=f&p=O5AP2_HUMAN&rb=145&re=289&var=S281P	deleterious(0)				YES	OR5AP2,missense_variant,p.Ser282Pro,ENST00000544374,;OR5AP2,missense_variant,p.Ser281Pro,ENST00000302981,NM_001002925.1;AP002517.1,downstream_gene_variant,,ENST00000584225,;							MODERATE	841/951	S281P	O5AP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000303111		CCDS31534.1			1	
GALNTL5	0	LGGM	GRCh37	7	151699830	151699830	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072623	H072623N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	20	19	.	.	ENST00000392800.2:c.690T>G	p.Cys230Trp	p.C230W	ENST00000392800	NM_145292.3	230	tgT/tgG	0	1	1	UPI000013C82E	0	getma.org/pdb.php?prot=GLTL5_HUMAN&from=137&to=323&var=C230W	ENST00000392800		ENSG00000106648	21725		39	4.26		HGNC	p.X134G		GALNTL5		SNV							ENST00000416062	protein_coding	getma.org/?cm=var&var=hg19,7,151699830,T,G&fts=all		Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675:SF17,hmmpanther:PTHR11675		C/W		G	high	944/1719		getma.org/?cm=msa&ty=f&p=GLTL5_HUMAN&rb=137&re=323&var=C230W	deleterious(0)				YES	GALNTL5,missense_variant,p.Cys230Trp,ENST00000392800,NM_145292.3;GALNTL5,missense_variant,p.Cys230Trp,ENST00000431418,;GALNTL5,non_coding_transcript_exon_variant,,ENST00000483959,;GALNTL5,stop_lost,p.Ter134GlyextTer29,ENST00000448366,;GALNTL5,stop_lost,p.Ter134GlyextTer29,ENST00000416062,;GALNTL5,3_prime_UTR_variant,,ENST00000416269,;GALNTL5,3_prime_UTR_variant,,ENST00000414073,;GALNTL5,3_prime_UTR_variant,,ENST00000426341,;							MODERATE	690/1332	C230W	GLTL5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376548		CCDS5929.1			1	
NLGN4X	0	LGGM	GRCh37	X	5821768	5821768	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	10	20	.	.	ENST00000381095.3:c.951C>G	p.Cys317Trp	p.C317W	ENST00000381095	NM_181332.1	317	tgC/tgG	0	1		UPI0000072EC5	0	getma.org/pdb.php?prot=NLGNX_HUMAN&from=22&to=590&var=C317W	ENST00000275857		ENSG00000146938	14287		30	3.79		HGNC	p.C337W		NLGN4X		SNV			1				ENST00000381093	protein_coding	getma.org/?cm=var&var=hg19,X,5821768,G,C&fts=all		Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559		C/W		C	high	1415/5454		getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=22&re=590&var=C317W	deleterious(0)	B3KMT6_HUMAN				NLGN4X,missense_variant,p.Cys317Trp,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Cys337Trp,ENST00000381093,;NLGN4X,missense_variant,p.Cys317Trp,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Cys317Trp,ENST00000381092,;NLGN4X,missense_variant,p.Cys317Trp,ENST00000538097,;NLGN4X,upstream_gene_variant,,ENST00000477079,;							MODERATE	951/2451	C317W	NLGNX_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000275857		CCDS14126.1			1	
DMRT2	0	LGGM	GRCh37	9	1053751	1053751	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072623	H072623N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	28	21	.	.	ENST00000382251.3:c.555T>C	p.Asn185=	p.N185=	ENST00000382251		185	aaT/aaC	0	1		UPI000013D066	0		ENST00000358146		ENSG00000173253	2935		49			HGNC	p.N185N		DMRT2		SNV							ENST00000382251	protein_coding			hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF59		N		C		555/1965								DMRT2,synonymous_variant,p.=,ENST00000259622,;DMRT2,synonymous_variant,p.=,ENST00000382255,NM_001130865.2,NM_006557.6;DMRT2,synonymous_variant,p.=,ENST00000382251,;DMRT2,synonymous_variant,p.=,ENST00000302441,NM_181872.4;DMRT2,synonymous_variant,p.=,ENST00000358146,;DMRT2,synonymous_variant,p.=,ENST00000412350,;							LOW	555/1686		DMRT2_HUMAN			Transcript			.	ENSP00000350865		CCDS6444.1			1	
FBXO34	0	LGGM	GRCh37	14	55818792	55818792	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	33	21	.	.	ENST00000313833.4:c.1684A>T	p.Arg562Trp	p.R562W	ENST00000313833	NM_017943.3	562	Agg/Tgg	0	1	1	UPI00001FD5AD	0	NA	ENST00000313833		ENSG00000178974	20201		54	2.33		HGNC	p.R562W		FBXO34		SNV							ENST00000313833	protein_coding	getma.org/?cm=var&var=hg19,14,55818792,A,T&fts=all		hmmpanther:PTHR16271,hmmpanther:PTHR16271:SF11		R/W		T	medium	1929/3464		getma.org/?cm=msa&ty=f&p=FBX34_HUMAN&rb=1&re=709&var=R562W	deleterious(0)	G3V2U9_HUMAN			YES	FBXO34,missense_variant,p.Arg562Trp,ENST00000313833,NM_017943.3;FBXO34,missense_variant,p.Arg562Trp,ENST00000440021,NM_152231.1;FBXO34,intron_variant,,ENST00000557647,;FBXO34,downstream_gene_variant,,ENST00000555087,;FBXO34,downstream_gene_variant,,ENST00000554940,;FBXO34,missense_variant,p.Arg428Trp,ENST00000555280,;							MODERATE	1684/2136	R562W	FBX34_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000313159		CCDS32086.1			1	
RP11-35J10.5	0	LGGM	GRCh37	11	7750605	7750605	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	60	22	.	.	ENST00000317359.2:n.690G>T		*230*	ENST00000317359				0	1			0		ENST00000527565		ENSG00000271758			82			Clone_based_vega_gene	p.V230V		RP11-35J10.5		SNV							ENST00000317359	lincRNA							T		-/589							YES	RP11-35J10.5,intron_variant,,ENST00000527565,;OR10AB1P,non_coding_transcript_exon_variant,,ENST00000317359,;OR10AB1P,non_coding_transcript_exon_variant,,ENST00000609613,;							MODIFIER						Transcript			.						1	
SALL3	0	LGGM	GRCh37	18	76757136	76757136	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	54	22	.	.	ENST00000537592.2:c.3717C>T	p.Pro1239=	p.P1239=	ENST00000537592	NM_171999.3	1239	ccC/ccT	0	1	1	UPI000013E5A7	0		ENST00000537592		ENSG00000256463	10527		76			HGNC	p.P1034P	COSM3891364	SALL3		SNV						1	ENST00000536229	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46		P		T		3717/3903							YES	SALL3,synonymous_variant,p.=,ENST00000536229,;SALL3,synonymous_variant,p.=,ENST00000575389,;SALL3,synonymous_variant,p.=,ENST00000537592,NM_171999.3;SALL3,intron_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;					1		LOW	3717/3903		SALL3_HUMAN			Transcript			.	ENSP00000441823		CCDS12013.1			1	
DNAH3	0	LGGM	GRCh37	16	21014482	21014482	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	22	24	.	.	ENST00000261383.3:c.6070G>T	p.Glu2024Ter	p.E2024*	ENST00000261383	NM_017539.1	2024	Gaa/Taa	0	1	1	UPI00001100F2	0	NA	ENST00000261383		ENSG00000158486	2949		46	0		HGNC	p.E2024X		DNAH3		SNV							ENST00000261383	protein_coding	getma.org/?cm=var&var=hg19,16,21014482,C,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242		E/*		A	NA	6070/12394		NA					YES	DNAH3,stop_gained,p.Glu2024Ter,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;							HIGH	6070/12351	E2024*	DYH3_HUMAN			Transcript			.	ENSP00000261383		CCDS10594.1			1	
CXCR2	0	LGGM	GRCh37	2	218999585	218999585	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072623	H072623N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	39	25	.	.	ENST00000318507.2:c.61A>C	p.Ser21Arg	p.S21R	ENST00000318507	NM_001557.3	21	Agt/Cgt	0	1	1	UPI000004358A	0	NA	ENST00000318507		ENSG00000180871	6027		64	1.525		HGNC	p.S21R	rs561614631	CXCR2		SNV			1				ENST00000453237	protein_coding	getma.org/?cm=var&var=hg19,2,218999585,A,C&fts=all	C:0	Prints_domain:PR00573,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF63,Superfamily_domains:SSF81321		S/R		C	low	488/2879		getma.org/?cm=msa&ty=f&p=CXCR2_HUMAN&rb=1&re=64&var=S21R	tolerated(0.39)	Q53PC4_HUMAN,C9JW47_HUMAN,C9JG19_HUMAN,C9J2F9_HUMAN,C9J1J7_HUMAN	C:0	C:0	YES	CXCR2,missense_variant,p.Ser21Arg,ENST00000318507,NM_001557.3;CXCR2,missense_variant,p.Ser21Arg,ENST00000453237,NM_001168298.1;CXCR2,missense_variant,p.Ser21Arg,ENST00000428565,;CXCR2,missense_variant,p.Ser21Arg,ENST00000454148,;CXCR2,missense_variant,p.Ser21Arg,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000418878,;		C:0.0002					MODERATE	61/1083	S21R	CXCR2_HUMAN		C:0.001	Transcript		benign(0.051)	.	ENSP00000319635		CCDS2408.1		C:0	1	
KLHL6	0	LGGM	GRCh37	3	183226229	183226229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	23	28	.	.	ENST00000341319.3:c.527G>T	p.Gly176Val	p.G176V	ENST00000341319	NM_130446.2	176	gGa/gTa	0	1	1	UPI0000169CB9	0	getma.org/pdb.php?prot=KLHL6_HUMAN&from=174&to=276&var=G176V	ENST00000341319		ENSG00000172578	18653		51	3.23		HGNC	p.G176V		KLHL6		SNV							ENST00000341319	protein_coding	getma.org/?cm=var&var=hg19,3,183226229,C,A&fts=all		hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037		G/V		A	medium	563/6298		getma.org/?cm=msa&ty=f&p=KLHL6_HUMAN&rb=174&re=276&var=G176V	deleterious(0)				YES	KLHL6,missense_variant,p.Gly176Val,ENST00000341319,NM_130446.2;KLHL6,missense_variant,p.Gly165Val,ENST00000468734,;KLHL6,non_coding_transcript_exon_variant,,ENST00000489245,;							MODERATE	527/1866	G176V	KLHL6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341342		CCDS3245.2			1	
OR4A47	0	LGGM	GRCh37	11	48510856	48510856	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072623	H072623N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	37	29	.	.	ENST00000446524.1:c.512T>A	p.Val171Asp	p.V171D	ENST00000446524	NM_001005512.2	171	gTc/gAc	0	1	1	UPI00001971E5	0	NA	ENST00000446524		ENSG00000237388	31266		66	2.44		HGNC	p.V171D		OR4A47		SNV							ENST00000446524	protein_coding	getma.org/?cm=var&var=hg19,11,48510856,T,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262		V/D		A	medium	588/1064		getma.org/?cm=msa&ty=f&p=OR4A4_HUMAN&rb=137&re=278&var=V171D	deleterious_low_confidence(0)				YES	OR4A47,missense_variant,p.Val171Asp,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;							MODERATE	512/930	V171D	O4A47_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000412752		CCDS31490.1			1	
OR4A47	0	LGGM	GRCh37	11	48510857	48510857	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	37	30	.	.	ENST00000446524.1:c.513C>A	p.Val171=	p.V171=	ENST00000446524	NM_001005512.2	171	gtC/gtA	0	1	1	UPI00001971E5	0		ENST00000446524		ENSG00000237388	31266		67			HGNC	p.V171V		OR4A47		SNV							ENST00000446524	protein_coding			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF87,hmmpanther:PTHR26451,PROSITE_profiles:PS50262		V		A		589/1064							YES	OR4A47,synonymous_variant,p.=,ENST00000446524,NM_001005512.2;OR4R1P,upstream_gene_variant,,ENST00000529879,;OR4A48P,upstream_gene_variant,,ENST00000531359,;							LOW	513/930		O4A47_HUMAN			Transcript			.	ENSP00000412752		CCDS31490.1			1	
PCDH15	0	LGGM	GRCh37	10	55566377	55566377	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	57	32	.	.	ENST00000373965.2:c.5017C>T	p.Pro1673Ser	p.P1673S	ENST00000373965	NM_001142772.1	1673	Ccc/Tcc	0	1	1	UPI0000EE0485	0	NA	ENST00000373965		ENSG00000150275	14674		89	1.995		HGNC	p.P1673S		PCDH15		SNV			1				ENST00000373965	protein_coding	getma.org/?cm=var&var=hg19,10,55566377,G,A&fts=all				P/S		A	medium	5412/9258		getma.org/?cm=msa&ty=f&p=A9Z1W1_HUMAN&rb=1471&re=1683&var=P1673S	deleterious_low_confidence(0)	A9Z1W1_HUMAN,A2A3D9_HUMAN				PCDH15,missense_variant,p.Pro1673Ser,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Pro1670Ser,ENST00000414778,;PCDH15,downstream_gene_variant,,ENST00000395438,NM_001142770.1;PCDH15,downstream_gene_variant,,ENST00000395445,NM_001142769.1;PCDH15,downstream_gene_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000395446,;PCDH15,downstream_gene_variant,,ENST00000395440,;PCDH15,downstream_gene_variant,,ENST00000395442,;PCDH15,non_coding_transcript_exon_variant,,ENST00000495484,;PCDH15,downstream_gene_variant,,ENST00000414367,;PCDH15,downstream_gene_variant,,ENST00000476074,;							MODERATE	5017/5055	P1673S				Transcript		benign(0.039)	.	ENSP00000363076					1	
OR4D10	0	LGGM	GRCh37	11	59245621	59245621	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	71	32	.	.	ENST00000530162.1:c.719G>A	p.Cys240Tyr	p.C240Y	ENST00000530162	NM_001004705.1	240	tGc/tAc	0	1	1	UPI0000046485	0	NA	ENST00000530162		ENSG00000254466	15173		103	4.065		HGNC	p.C240Y		OR4D10		SNV							ENST00000530162	protein_coding	getma.org/?cm=var&var=hg19,11,59245621,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF111,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		C/Y		A	high	776/1024		getma.org/?cm=msa&ty=f&p=OR4DA_HUMAN&rb=139&re=280&var=C240Y	deleterious(0)				YES	OR4D10,missense_variant,p.Cys240Tyr,ENST00000530162,NM_001004705.1;							MODERATE	719/936	C240Y	OR4DA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000436424		CCDS53636.1			1	
SLIT2	0	LGGM	GRCh37	4	20525795	20525795	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	38	34	.	.	ENST00000504154.1:c.1433G>T	p.Cys478Phe	p.C478F	ENST00000504154	NM_004787.1	478	tGt/tTt	0	1	1	UPI00000747E4	0	getma.org/pdb.php?prot=SLIT2_HUMAN&from=454&to=479&var=C478F	ENST00000504154		ENSG00000145147	11086		72	3.345		HGNC	p.C478F		SLIT2		SNV							ENST00000504154	protein_coding	getma.org/?cm=var&var=hg19,4,20525795,G,T&fts=all		hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF01463,SMART_domains:SM00082		C/F		T	medium	1685/6390		getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=434&re=499&var=C478F	deleterious(0)	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,missense_variant,p.Cys478Phe,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.Cys478Phe,ENST00000503823,;SLIT2,missense_variant,p.Cys482Phe,ENST00000273739,;SLIT2,missense_variant,p.Cys482Phe,ENST00000503837,;MIR218-1,upstream_gene_variant,,ENST00000384999,;							MODERATE	1433/4590	C478F	SLIT2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000422591		CCDS3426.1			1	
TMEM242	0	LGGM	GRCh37	6	157739886	157739886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072623	H072623N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	51	36	.	.	ENST00000400788.4:c.255G>T	p.Trp85Cys	p.W85C	ENST00000400788	NM_018452.4	85	tgG/tgT	0	1	1	UPI0000071567	0	NA	ENST00000400788		ENSG00000215712	17206		87	2.785		HGNC	p.W85C		TMEM242		SNV							ENST00000400788	protein_coding	getma.org/?cm=var&var=hg19,6,157739886,C,A&fts=all		Pfam_domain:PF07096,hmmpanther:PTHR13141,hmmpanther:PTHR13141:SF3,Transmembrane_helices:TMhelix		W/C		A	medium	357/4043		getma.org/?cm=msa&ty=f&p=TM242_HUMAN&rb=1&re=141&var=W85C	deleterious(0.01)				YES	TMEM242,missense_variant,p.Trp85Cys,ENST00000400788,NM_018452.4;TMEM242,missense_variant,p.Trp85Cys,ENST00000367144,;							MODERATE	255/426	W85C	TM242_HUMAN			Transcript		possibly_damaging(0.478)	.	ENSP00000383594		CCDS43519.1			1	
PEAK1	0	LGGM	GRCh37	15	77472434	77472434	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072623	H072623N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	54	38	.	.	ENST00000560626.2:c.1835A>T	p.Asp612Val	p.D612V	ENST00000560626		612	gAc/gTc	0	1		UPI00002378D0	0	NA	ENST00000312493		ENSG00000173517	29431		92	1.1		HGNC	p.D612V		PEAK1		SNV							ENST00000312493	protein_coding	getma.org/?cm=var&var=hg19,15,77472434,T,A&fts=all		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5		D/V		A	low	2114/11547		getma.org/?cm=msa&ty=f&p=PEAK1_HUMAN&rb=101&re=1105&var=D612V	deleterious(0)	H3BUZ5_HUMAN,H3BUE6_HUMAN				PEAK1,missense_variant,p.Asp612Val,ENST00000560626,;PEAK1,missense_variant,p.Asp612Val,ENST00000312493,NM_024776.3;PEAK1,missense_variant,p.Asp612Val,ENST00000558305,;PEAK1,missense_variant,p.Asp612Val,ENST00000564328,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000560854,;							MODERATE	1835/5241	D612V	PEAK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000309230		CCDS42062.1			1	
TACC1	0	LGGM	GRCh37	8	38678061	38678061	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	71	44	.	.	ENST00000317827.4:c.1299G>A	p.Thr433=	p.T433=	ENST00000317827	NM_006283.2	433	acG/acA	0	1	1	UPI000013DACE	0		ENST00000317827		ENSG00000147526	11522		115			HGNC	p.T238T	rs761206317	TACC1	0.000182	SNV			1				ENST00000520973	protein_coding			hmmpanther:PTHR13924		T		A		1678/7802	1.50E-05			E5RJU4_HUMAN,E5RJG6_HUMAN,E5RIP3_HUMAN,E5RI10_HUMAN			YES	TACC1,synonymous_variant,p.=,ENST00000379931,;TACC1,synonymous_variant,p.=,ENST00000317827,NM_006283.2;TACC1,synonymous_variant,p.=,ENST00000519416,;TACC1,synonymous_variant,p.=,ENST00000520615,NM_001146216.2;TACC1,synonymous_variant,p.=,ENST00000518809,;TACC1,synonymous_variant,p.=,ENST00000518415,;TACC1,synonymous_variant,p.=,ENST00000443286,;TACC1,synonymous_variant,p.=,ENST00000520973,;TACC1,synonymous_variant,p.=,ENST00000520340,;TACC1,synonymous_variant,p.=,ENST00000521866,;TACC1,synonymous_variant,p.=,ENST00000522904,;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,,ENST00000520611,;TACC1,downstream_gene_variant,,ENST00000521935,;TACC1,downstream_gene_variant,,ENST00000524193,;TACC1,downstream_gene_variant,,ENST00000521528,;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,;	0.000116						LOW	1299/2418		TACC1_HUMAN			Transcript			.	ENSP00000321703	4.12E-05	CCDS6109.1			1	
FRAS1	0	LGGM	GRCh37	4	79432468	79432468	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	43	46	.	.	ENST00000264895.6:c.9821G>A	p.Arg3274His	p.R3274H	ENST00000264895	NM_025074.6	3274	cGt/cAt	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185	8.64E-05	89	2.215		HGNC	p.R3274H	rs774492695	FRAS1		SNV			1				ENST00000264895	protein_coding	getma.org/?cm=var&var=hg19,4,79432468,G,A&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878		R/H		A	medium	10261/12479	1.50E-05	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=3155&re=4005&var=R3269H		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Arg3274His,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Arg1503His,ENST00000512123,;	0.000116						MODERATE	9821/12039	R3269H	FRAS1_HUMAN	0.000151		Transcript		probably_damaging(0.993)	.	ENSP00000264895	3.30E-05	CCDS54771.1			1	
FRAS1	0	LGGM	GRCh37	4	79301087	79301087	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072623	H072623N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072623N.bam, H072623T.bam	Illumina HiSeq	38	48	.	.	ENST00000264895.6:c.3500G>A	p.Arg1167His	p.R1167H	ENST00000264895	NM_025074.6	1167	cGt/cAt	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185	0.000173	86	-1.255		HGNC	p.R1167H	rs376836345	FRAS1	0.000121	SNV	A:0.0003		1	0.000102			ENST00000325942	protein_coding	getma.org/?cm=var&var=hg19,4,79301087,G,A&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878		R/H	A:0	A	neutral	3940/12479	3.00E-05	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1143&re=1342&var=R1166H		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Arg1167His,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Arg1167His,ENST00000325942,NM_001166133.1;MINOS1P4,downstream_gene_variant,,ENST00000515470,;							MODERATE	3500/12039	R1166H	FRAS1_HUMAN			Transcript		benign(0.001)	.	ENSP00000264895	5.79E-05	CCDS54771.1			1	
BCKDK	0	LGGM	GRCh37	16	31120631	31120631	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	2	2	.	.	ENST00000394951.1:c.87C>A	p.Ala29=	p.A29=	ENST00000394951		29	gcC/gcA	0	1		UPI0000126825	0		ENST00000219794		ENSG00000103507	16902		4			HGNC	p.A29A		BCKDK		SNV			1				ENST00000567530	protein_coding			hmmpanther:PTHR11947:SF20,hmmpanther:PTHR11947,Low_complexity_(Seg):seg		A		A		450/2126				H3BQP2_HUMAN,H3BNP3_HUMAN,A8MY43_HUMAN				BCKDK,synonymous_variant,p.=,ENST00000394951,;BCKDK,synonymous_variant,p.=,ENST00000219794,NM_005881.3,NM_001122957.2;BCKDK,synonymous_variant,p.=,ENST00000394950,;BCKDK,synonymous_variant,p.=,ENST00000287507,NM_001271926.1;BCKDK,synonymous_variant,p.=,ENST00000484226,;BCKDK,synonymous_variant,p.=,ENST00000561755,;BCKDK,synonymous_variant,p.=,ENST00000567676,;BCKDK,upstream_gene_variant,,ENST00000567682,;AC135050.1,non_coding_transcript_exon_variant,,ENST00000517000,;BCKDK,synonymous_variant,p.=,ENST00000567530,;BCKDK,non_coding_transcript_exon_variant,,ENST00000566568,;							LOW	87/1239		BCKD_HUMAN			Transcript			.	ENSP00000219794		CCDS10705.1			1	
WBP4	0	LGGM	GRCh37	13	41636782	41636782	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	2	.	.	ENST00000379487.3:c.5C>A	p.Ala2Glu	p.A2E	ENST00000379487	NM_007187.3	2	gCg/gAg	0	1	1	UPI0000072671	0	NA	ENST00000379487		ENSG00000120688	12739		32	2.905		HGNC	p.A2E		WBP4		SNV							ENST00000379487	protein_coding	getma.org/?cm=var&var=hg19,13,41636782,C,A&fts=all		hmmpanther:PTHR13173		A/E		A	medium	405/2618		getma.org/?cm=msa&ty=f&p=WBP4_HUMAN&rb=1&re=37&var=A2E	deleterious(0)				YES	WBP4,missense_variant,p.Ala2Glu,ENST00000379487,NM_007187.3;WBP4,missense_variant,p.Ala2Glu,ENST00000542082,;ELF1,upstream_gene_variant,,ENST00000405737,;							MODERATE	5/1131	A2E	WBP4_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000368801		CCDS9375.1			1	
GPR158	0	LGGM	GRCh37	10	25861758	25861758	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	19	2	.	.	ENST00000376351.3:c.1695C>A	p.Ser565=	p.S565=	ENST00000376351	NM_020752.2	565	tcC/tcA	0	1	1	UPI0000199875	0		ENST00000376351		ENSG00000151025	23689		21			HGNC	p.S565S		GPR158		SNV							ENST00000376351	protein_coding			PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003		S		A		2054/6959							YES	GPR158,synonymous_variant,p.=,ENST00000376351,NM_020752.2;							LOW	1695/3648		GP158_HUMAN			Transcript			.	ENSP00000365529		CCDS31166.1			1	
CASZ1	0	LGGM	GRCh37	1	10702986	10702986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	7	2	.	.	ENST00000377022.3:c.4092G>T	p.Met1364Ile	p.M1364I	ENST00000377022	NM_001079843.2	1364	atG/atT	0	1	1	UPI0000EBB7D6	0	NA	ENST00000377022		ENSG00000130940	26002		9	0.345		HGNC	p.M128I		CASZ1		SNV							ENST00000447850	protein_coding	getma.org/?cm=var&var=hg19,1,10702986,C,A&fts=all		hmmpanther:PTHR12451		M/I		A	neutral	4410/7936		getma.org/?cm=msa&ty=f&p=CASZ1_HUMAN&rb=1201&re=1400&var=M1364I	tolerated_low_confidence(0.43)				YES	CASZ1,missense_variant,p.Met1364Ile,ENST00000377022,NM_001079843.2;CASZ1,missense_variant,p.Met128Ile,ENST00000447850,;CASZ1,downstream_gene_variant,,ENST00000344008,NM_017766.4;RP4-734G22.3,intron_variant,,ENST00000606802,;CASZ1,upstream_gene_variant,,ENST00000478524,;							MODERATE	4092/5280	M1364I	CASZ1_HUMAN			Transcript		benign(0.003)	.	ENSP00000366221		CCDS41246.1			1	
RP11-60L3.1	0	LGGM	GRCh37	15	74510973	74510973	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	10	2	.	.	ENST00000560148.1:n.809G>A		*270*	ENST00000560148				0	1	1		0		ENST00000560148		ENSG00000259264			12			Clone_based_vega_gene	p.R149H	rs753696553	RP11-60L3.1		SNV							ENST00000321288	antisense							A		809/1344							YES	CCDC33,missense_variant,p.Arg149His,ENST00000321288,;RP11-60L3.1,non_coding_transcript_exon_variant,,ENST00000560148,;RP11-60L3.1,non_coding_transcript_exon_variant,,ENST00000559243,;							MODIFIER						Transcript			.		0.000141				1	
VEGFC	0	LGGM	GRCh37	4	177650832	177650832	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	20	3	.	.	ENST00000280193.2:c.216A>G	p.Val72=	p.V72=	ENST00000280193	NM_005429.3	72	gtA/gtG	0	1	1	UPI000020B749	0		ENST00000280193		ENSG00000150630	12682		23			HGNC	p.V72V		VEGFC		SNV			1				ENST00000280193	protein_coding			hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF3		V		C		632/2067							YES	VEGFC,synonymous_variant,p.=,ENST00000280193,NM_005429.3;VEGFC,upstream_gene_variant,,ENST00000507638,;							LOW	216/1263		VEGFC_HUMAN			Transcript			.	ENSP00000280193		CCDS43285.1			1	
SERPINE3	0	LGGM	GRCh37	13	51918432	51918432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	31	3	.	.	ENST00000521255.1:c.301C>A	p.Pro101Thr	p.P101T	ENST00000521255	NM_001101320.1	101	Ccc/Acc	0	1	1	UPI00001B2164	0	getma.org/pdb.php?prot=SERP3_HUMAN&from=29&to=400&var=P101T	ENST00000521255		ENSG00000253309	24774		34	0.585		HGNC	p.P101T		SERPINE3		SNV							ENST00000521255	protein_coding	getma.org/?cm=var&var=hg19,13,51918432,C,A&fts=all		Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF129		P/T		A	neutral	361/1439		getma.org/?cm=msa&ty=f&p=SERP3_HUMAN&rb=29&re=400&var=P101T	tolerated(1)	E5RG55_HUMAN			YES	SERPINE3,missense_variant,p.Pro101Thr,ENST00000524365,;SERPINE3,missense_variant,p.Pro101Thr,ENST00000521255,NM_001101320.1;SERPINE3,missense_variant,p.Pro101Thr,ENST00000400389,;SERPINE3,downstream_gene_variant,,ENST00000419898,;MIR5693,downstream_gene_variant,,ENST00000577722,;							MODERATE	301/1275	P101T	SERP3_HUMAN			Transcript		benign(0.012)	.	ENSP00000428316		CCDS53870.1			1	
HFM1	0	LGGM	GRCh37	1	91733309	91733309	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	3	.	.	ENST00000370425.3:c.3876A>C	p.Lys1292Asn	p.K1292N	ENST00000370425	NM_001017975.3	1292	aaA/aaC	0	1	1	UPI0000F51F79	0	NA	ENST00000370425		ENSG00000162669	20193		33	1.265		HGNC	p.K971N		HFM1		SNV							ENST00000370424	protein_coding	getma.org/?cm=var&var=hg19,1,91733309,T,G&fts=all				K/N		G	low	3975/4931		getma.org/?cm=msa&ty=f&p=HFM1_HUMAN&rb=1093&re=1292&var=K1292N	tolerated_low_confidence(0.17)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN			YES	HFM1,missense_variant,p.Lys1292Asn,ENST00000370425,NM_001017975.3;HFM1,missense_variant,p.Lys524Asn,ENST00000294696,;HFM1,missense_variant,p.Lys971Asn,ENST00000370424,;HFM1,missense_variant,p.Lys504Asn,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;							MODERATE	3876/4308	K1292N	HFM1_HUMAN			Transcript		benign(0.002)	.	ENSP00000359454		CCDS30769.2			1	
MYCT1	0	LGGM	GRCh37	6	153019195	153019195	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	39	3	.	.	ENST00000367245.5:c.158C>A	p.Thr53Lys	p.T53K	ENST00000367245	NM_025107.2	53	aCa/aAa	0	1	1	UPI0000073EDB	0	NA	ENST00000367245		ENSG00000120279	23172		42	1.67		HGNC	p.T53K		MYCT1		SNV							ENST00000529453	protein_coding	getma.org/?cm=var&var=hg19,6,153019195,C,A&fts=all		Pfam_domain:PF15179,hmmpanther:PTHR14869		T/K		A	low	166/3030		getma.org/?cm=msa&ty=f&p=MYCT1_HUMAN&rb=14&re=96&var=T53K	tolerated(0.06)	D6Q1S4_HUMAN			YES	MYCT1,missense_variant,p.Thr53Lys,ENST00000367245,NM_025107.2;MYCT1,missense_variant,p.Thr34Lys,ENST00000532295,;MYCT1,missense_variant,p.Thr53Lys,ENST00000529453,;							MODERATE	158/708	T53K	MYCT1_HUMAN			Transcript		possibly_damaging(0.856)	.	ENSP00000356214		CCDS5239.1			1	
SARM1	0	LGGM	GRCh37	17	26711554	26711554	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	9	3	.	.	ENST00000457710.3:c.1166A>G	p.Gln389Arg	p.Q389R	ENST00000457710	NM_015077.3	389	cAg/cGg	0	1	1	UPI0000042801	0		ENST00000457710		ENSG00000004139	17074		12			HGNC	p.Q389R		SARM1		SNV							ENST00000457710	protein_coding			Superfamily_domains:SSF47769,SMART_domains:SM00454,Pfam_domain:PF07647,Gene3D:1.10.150.50,hmmpanther:PTHR22998,PROSITE_profiles:PS50105		Q/R		G		1637/7304			tolerated(0.23)				YES	SARM1,missense_variant,p.Gln389Arg,ENST00000457710,NM_015077.3;SARM1,upstream_gene_variant,,ENST00000579593,;TMEM199,downstream_gene_variant,,ENST00000509083,;SARM1,upstream_gene_variant,,ENST00000578128,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;CTB-96E2.3,downstream_gene_variant,,ENST00000591482,;SARM1,upstream_gene_variant,,ENST00000003834,;SARM1,upstream_gene_variant,,ENST00000577870,;SARM1,upstream_gene_variant,,ENST00000582323,;SARM1,upstream_gene_variant,,ENST00000580711,;							MODERATE	1166/2073					Transcript		probably_damaging(0.997)	.	ENSP00000406738					1	
TSTD2	0	LGGM	GRCh37	9	100380141	100380141	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	21	3	.	.	ENST00000341170.4:c.501A>G	p.Glu167=	p.E167=	ENST00000341170	NM_139246.4	167	gaA/gaG	0	1	1	UPI00002114B8	0		ENST00000341170		ENSG00000136925	30087		24			HGNC	p.E167E		TSTD2		SNV							ENST00000341170	protein_coding			hmmpanther:PTHR18838,hmmpanther:PTHR18838:SF19		E		C		884/4320							YES	TSTD2,synonymous_variant,p.=,ENST00000341170,NM_139246.4;TSTD2,5_prime_UTR_variant,,ENST00000354801,;TSTD2,upstream_gene_variant,,ENST00000484708,;TSTD2,3_prime_UTR_variant,,ENST00000375172,;TSTD2,3_prime_UTR_variant,,ENST00000375165,;TSTD2,non_coding_transcript_exon_variant,,ENST00000375163,;							LOW	501/1551		TSTD2_HUMAN			Transcript			.	ENSP00000342499		CCDS6727.2			1	
GRAMD1A	0	LGGM	GRCh37	19	35512483	35512483	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	36	3	.	.	ENST00000317991.5:c.1553G>A	p.Gly518Asp	p.G518D	ENST00000317991	NM_020895.3	518	gGc/gAc	0	1	1	UPI00000377B4	0	NA	ENST00000317991		ENSG00000089351	29305		39	2.555		HGNC	p.G518D		GRAMD1A		SNV							ENST00000317991	protein_coding	getma.org/?cm=var&var=hg19,19,35512483,G,A&fts=all		hmmpanther:PTHR23319:SF8,hmmpanther:PTHR23319		G/D		A	medium	1745/2695		getma.org/?cm=msa&ty=f&p=GRM1A_HUMAN&rb=359&re=558&var=G518D	deleterious(0)				YES	GRAMD1A,missense_variant,p.Gly605Asp,ENST00000599564,;GRAMD1A,missense_variant,p.Gly518Asp,ENST00000317991,NM_020895.3;GRAMD1A,missense_variant,p.Gly284Asp,ENST00000504615,;GRAMD1A,missense_variant,p.Gly511Asp,ENST00000411896,NM_001136199.1;CTD-2527I21.14,intron_variant,,ENST00000605640,;GRAMD1A,3_prime_UTR_variant,,ENST00000600231,;GRAMD1A,non_coding_transcript_exon_variant,,ENST00000598118,;GRAMD1A,upstream_gene_variant,,ENST00000603907,;							MODERATE	1553/2175	G518D	GRM1A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000441032		CCDS42546.1			1	
PRRC2B	0	LGGM	GRCh37	9	134371186	134371186	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	33	3	.	.	ENST00000357304.4:c.6615C>A	p.Pro2205=	p.P2205=	ENST00000357304	NM_013318.3	2205	ccC/ccA	0	1	1	UPI00002374A3	0		ENST00000357304		ENSG00000130723	28121		36			HGNC	p.P2205P		PRRC2B		SNV							ENST00000357304	protein_coding			hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		P		A		6670/11042				Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,synonymous_variant,p.=,ENST00000357304,NM_013318.3;PRRC2B,synonymous_variant,p.=,ENST00000405995,;PRRC2B,synonymous_variant,p.=,ENST00000458550,;PRRC2B,3_prime_UTR_variant,,ENST00000372249,;PRRC2B,3_prime_UTR_variant,,ENST00000320547,;PRRC2B,non_coding_transcript_exon_variant,,ENST00000465931,;AL358781.1,downstream_gene_variant,,ENST00000321081,;							LOW	6615/6690		PRC2B_HUMAN			Transcript			.	ENSP00000349856		CCDS48044.1			1	
SETDB1	0	LGGM	GRCh37	1	150912418	150912418	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	46	3	.	.	ENST00000271640.5:c.415G>C	p.Asp139His	p.D139H	ENST00000271640	NM_001145415.1	139	Gat/Cat	0	1	1	UPI0000135897	0	NA	ENST00000271640		ENSG00000143379	10761		49	0.345		HGNC	p.D139H		SETDB1		SNV							ENST00000368969	protein_coding	getma.org/?cm=var&var=hg19,1,150912418,G,C&fts=all		PROSITE_profiles:PS51573,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884		D/H		C	neutral	605/4437		getma.org/?cm=msa&ty=f&p=SETB1_HUMAN&rb=70&re=269&var=D139H	tolerated_low_confidence(0.12)	E9PS59_HUMAN,B0QZE6_HUMAN			YES	SETDB1,missense_variant,p.Asp139His,ENST00000271640,NM_001145415.1,NM_012432.3;SETDB1,missense_variant,p.Asp139His,ENST00000368969,;SETDB1,missense_variant,p.Asp139His,ENST00000498193,;SETDB1,missense_variant,p.Asp139His,ENST00000534805,;SETDB1,missense_variant,p.Asp139His,ENST00000368962,NM_001243491.1;SETDB1,missense_variant,p.Asp139His,ENST00000368963,;SETDB1,missense_variant,p.Asp139His,ENST00000448029,;SETDB1,missense_variant,p.Asp139His,ENST00000525956,;SETDB1,intron_variant,,ENST00000459773,;SETDB1,intron_variant,,ENST00000487584,;SETDB1,splice_region_variant,,ENST00000368964,;							MODERATE	415/3876	D139H	SETB1_HUMAN			Transcript		benign(0.382)	.	ENSP00000271640		CCDS44217.1			1	
GRIK4	0	LGGM	GRCh37	11	120776032	120776032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	44	3	.	.	ENST00000527524.2:c.1306C>A	p.Gln436Lys	p.Q436K	ENST00000527524	NM_001282470.1	436	Cag/Aag	0	1		UPI000013DB8D	0	getma.org/pdb.php?prot=GRIK4_HUMAN&from=427&to=491&var=Q436K	ENST00000438375		ENSG00000149403	4582		47	0.545		HGNC	p.Q436K		GRIK4		SNV							ENST00000527524	protein_coding	getma.org/?cm=var&var=hg19,11,120776032,C,A&fts=all		Superfamily_domains:SSF53850,SMART_domains:SM00079,SMART_domains:SM00918,Gene3D:3.40.190.10,Pfam_domain:PF10613,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966		Q/K		A	neutral	1648/4214		getma.org/?cm=msa&ty=f&p=GRIK4_HUMAN&rb=427&re=491&var=Q436K	tolerated(0.5)					GRIK4,missense_variant,p.Gln436Lys,ENST00000527524,NM_001282470.1;GRIK4,missense_variant,p.Gln436Lys,ENST00000438375,NM_014619.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;							MODERATE	1306/2871	Q436K	GRIK4_HUMAN			Transcript		benign(0.161)	.	ENSP00000404063		CCDS8433.1			1	
TMEM179	0	LGGM	GRCh37	14	105061475	105061475	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	16	3	.	.	ENST00000341595.3:c.549G>T	p.Arg183Ser	p.R183S	ENST00000341595	NM_207379	183	agG/agT	0	1		UPI00001AFA94	0		ENST00000556573		ENSG00000258986	20137		19			HGNC	p.R183S		TMEM179		SNV							ENST00000341595	protein_coding							A		-/1430								TMEM179,missense_variant,p.Arg183Ser,ENST00000341595,NM_207379;TMEM179,intron_variant,,ENST00000556573,NM_001286389.1;TMEM179,intron_variant,,ENST00000415614,;C14orf180,downstream_gene_variant,,ENST00000557649,;TMEM179,upstream_gene_variant,,ENST00000556320,;							MODIFIER	-/702		T179A_HUMAN			Transcript			.	ENSP00000450958		CCDS66723.1			1	
FGF12	0	LGGM	GRCh37	3	192126008	192126008	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	1	3	.	.	ENST00000454309.2:c.5C>G	p.Ala2Gly	p.A2G	ENST00000454309	NM_021032.4	2	gCt/gGt	0	1	1	UPI0000003FDD	0	NA	ENST00000454309		ENSG00000114279	3668		4	1.59		HGNC	p.A2G		FGF12		SNV							ENST00000454309	protein_coding	getma.org/?cm=var&var=hg19,3,192126008,G,C&fts=all		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF17		A/G		C	low	831/3058		getma.org/?cm=msa&ty=f&p=FGF12_HUMAN&rb=1&re=72&var=A2G	deleterious_low_confidence(0)	C9JUK8_HUMAN			YES	FGF12,missense_variant,p.Ala2Gly,ENST00000454309,NM_021032.4;FGF12,intron_variant,,ENST00000445105,NM_004113.5;FGF12,intron_variant,,ENST00000264730,;FGF12,intron_variant,,ENST00000450716,;FGF12,intron_variant,,ENST00000418610,;FGF12,intron_variant,,ENST00000430714,;FGF12,intron_variant,,ENST00000448795,;							MODERATE	5/732	A2G	FGF12_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000413496		CCDS3301.1			1	
P2RY2	0	LGGM	GRCh37	11	72946163	72946163	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	24	3	.	.	ENST00000311131.2:c.959C>A	p.Ala320Asp	p.A320D	ENST00000311131	NM_176072.2	320	gCc/gAc	0	1	1	UPI000013F103	0	NA	ENST00000311131		ENSG00000175591	8541		27	1.935		HGNC	p.A320D		P2RY2		SNV							ENST00000393597	protein_coding	getma.org/?cm=var&var=hg19,11,72946163,C,A&fts=all		hmmpanther:PTHR24231:SF17,hmmpanther:PTHR24231,Prints_domain:PR00594		A/D		A	medium	1426/2660		getma.org/?cm=msa&ty=f&p=P2RY2_HUMAN&rb=277&re=360&var=A320D	tolerated(0.56)				YES	P2RY2,missense_variant,p.Ala320Asp,ENST00000311131,NM_176072.2;P2RY2,missense_variant,p.Ala320Asp,ENST00000393596,;P2RY2,missense_variant,p.Ala320Asp,ENST00000393597,;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,;							MODERATE	959/1134	A320D	P2RY2_HUMAN			Transcript		benign(0.005)	.	ENSP00000310305		CCDS8219.1			1	
PHF21A	0	LGGM	GRCh37	11	45970983	45970983	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	73	4	.	.	ENST00000418153.2:c.1194G>A	p.Pro398=	p.P398=	ENST00000418153		398	ccG/ccA	0	1	1	UPI000006E1CB	0		ENST00000418153		ENSG00000135365	24156		77			HGNC	p.P398P	rs768776752	PHF21A		SNV			1	9.61E-05			ENST00000418153	protein_coding			hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF6		P		T		1394/2730	1.50E-05			E9PR02_HUMAN,E9PQM3_HUMAN,E9PNW9_HUMAN,E9PLV4_HUMAN			YES	PHF21A,synonymous_variant,p.=,ENST00000257821,NM_001101802.1;PHF21A,synonymous_variant,p.=,ENST00000323180,NM_016621.3;PHF21A,synonymous_variant,p.=,ENST00000418153,;PHF21A,upstream_gene_variant,,ENST00000532028,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527753,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527401,;PHF21A,non_coding_transcript_exon_variant,,ENST00000534766,;							LOW	1194/2043		PF21A_HUMAN			Transcript			.	ENSP00000398824	1.65E-05	CCDS44578.1			1	
PDXDC2P	0	LGGM	GRCh37	16	70010547	70010547	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	39	4	.	.	ENST00000531894.1:n.3837G>T		*1279*	ENST00000531894				0	1	1		0		ENST00000531894		ENSG00000196696	27559		43			HGNC	p.G244V		PDXDC2P		SNV							ENST00000532298	processed_transcript							A		3837/4184							YES	PDXDC2P,non_coding_transcript_exon_variant,,ENST00000531894,;PDXDC2P,non_coding_transcript_exon_variant,,ENST00000530079,;PDXDC2P,downstream_gene_variant,,ENST00000325845,;RP11-419C5.2,downstream_gene_variant,,ENST00000525562,;RP11-419C5.2,downstream_gene_variant,,ENST00000526720,;RP11-419C5.2,non_coding_transcript_exon_variant,,ENST00000532298,;							MODIFIER						Transcript			.						1	
SVEP1	0	LGGM	GRCh37	9	113341805	113341805	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	8	4	.	.	ENST00000401783.2:c.19T>C	p.Phe7Leu	p.F7L	ENST00000401783	NM_153366.3	7	Ttt/Ctt	0	1		UPI0000458920	0	NA	ENST00000374469		ENSG00000165124	15985		12	0.345		HGNC	p.F7L		SVEP1		SNV							ENST00000401783	protein_coding	getma.org/?cm=var&var=hg19,9,113341805,A,G&fts=all						G	neutral	214/12194		getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=1&re=68&var=F7L						SVEP1,missense_variant,p.Phe7Leu,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Phe7Leu,ENST00000302728,;SVEP1,5_prime_UTR_variant,,ENST00000374469,;SVEP1,5_prime_UTR_variant,,ENST00000374461,;							MODIFIER	-/10647	F7L				Transcript			.	ENSP00000363593					1	
SLC5A5	0	LGGM	GRCh37	19	17985476	17985476	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	5	.	.	ENST00000222248.3:c.479C>G	p.Thr160Ser	p.T160S	ENST00000222248	NM_000453.2	160	aCc/aGc	0	1	1	UPI00001359F6	0	getma.org/pdb.php?prot=SC5A5_HUMAN&from=47&to=452&var=T160S	ENST00000222248		ENSG00000105641	11040		22	2.33		HGNC	p.T160S		SLC5A5		SNV			1				ENST00000222248	protein_coding	getma.org/?cm=var&var=hg19,19,17985476,C,G&fts=all		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18,TIGRFAM_domain:TIGR00813		T/S		G	medium	826/3576		getma.org/?cm=msa&ty=f&p=SC5A5_HUMAN&rb=47&re=452&var=T160S	deleterious(0.02)	Q9UEU3_HUMAN			YES	SLC5A5,missense_variant,p.Thr160Ser,ENST00000222248,NM_000453.2;							MODERATE	479/1932	T160S	SC5A5_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000222248		CCDS12368.1			1	
CYP4F22	0	LGGM	GRCh37	19	15651453	15651453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	8	5	.	.	ENST00000269703.3:c.864G>T	p.Gln288His	p.Q288H	ENST00000269703	NM_173483.3	288	caG/caT	0	1	1	UPI000013D84B	0	getma.org/pdb.php?prot=CP4FN_HUMAN&from=60&to=524&var=Q288H	ENST00000269703		ENSG00000171954	26820		13	0.54		HGNC	p.Q288H		CYP4F22		SNV			1				ENST00000601005	protein_coding	getma.org/?cm=var&var=hg19,19,15651453,G,T&fts=all		hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF68,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		Q/H		T	neutral	1063/2641		getma.org/?cm=msa&ty=f&p=CP4FN_HUMAN&rb=60&re=524&var=Q288H	tolerated(0.13)				YES	CYP4F22,missense_variant,p.Gln288His,ENST00000269703,NM_173483.3;CYP4F22,missense_variant,p.Gln288His,ENST00000601005,;							MODERATE	864/1596	Q288H	CP4FN_HUMAN			Transcript		possibly_damaging(0.54)	.	ENSP00000269703		CCDS12331.1			1	
TBC1D26	0	LGGM	GRCh37	17	15644494	15644494	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	48	5	.	.	ENST00000437605.2:c.605C>A	p.Pro202Gln	p.P202Q	ENST00000437605	NM_178571.4	202	cCa/cAa	0	1		UPI0000246DD7	0	getma.org/pdb.php?prot=TBC26_HUMAN&from=104&to=232&var=P202Q	ENST00000469477		ENSG00000214946	28745		53	2.245		HGNC	p.P202Q		TBC1D26		SNV							ENST00000469477	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,17,15644494,C,A&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF242,hmmpanther:PTHR22957,Gene3D:2qq8A02,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923		P/Q		A	medium	849/1616		getma.org/?cm=msa&ty=f&p=TBC26_HUMAN&rb=104&re=232&var=P202Q	tolerated(0.08)	J3QQK9_HUMAN,J3QLL4_HUMAN				TBC1D26,missense_variant,p.Pro202Gln,ENST00000437605,NM_178571.4;ZNF286A,downstream_gene_variant,,ENST00000593105,;TBC1D26,downstream_gene_variant,,ENST00000579428,;TBC1D26,downstream_gene_variant,,ENST00000464963,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,intron_variant,,ENST00000580194,;AC005324.6,intron_variant,,ENST00000433873,;TBC1D26,missense_variant,p.Pro202Gln,ENST00000469477,;ZNF286A,3_prime_UTR_variant,,ENST00000413242,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000580970,;ZNF286A,downstream_gene_variant,,ENST00000412988,;							MODERATE	605/753	P202Q	TBC26_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000434391		CCDS42265.1			1	
SYN3	0	LGGM	GRCh37	22	33264989	33264989	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	14	5	.	.	ENST00000358763.2:c.585C>T	p.Leu195=	p.L195=	ENST00000358763	NM_001135774.1	195	ctC/ctT	0	1	1	UPI00001365D3	0		ENST00000358763		ENSG00000185666	11496		19			HGNC	p.L195L		SYN3		SNV							ENST00000332840	protein_coding			hmmpanther:PTHR10841,Gene3D:3.40.50.20,Pfam_domain:PF02750,Superfamily_domains:SSF56059		L		A		828/3126				Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN			YES	SYN3,synonymous_variant,p.=,ENST00000358763,NM_001135774.1;SYN3,synonymous_variant,p.=,ENST00000332840,NM_003490.3,NM_133633.2;SYN3,non_coding_transcript_exon_variant,,ENST00000462268,;SYN3,non_coding_transcript_exon_variant,,ENST00000467824,;							LOW	585/1743		SYN3_HUMAN			Transcript			.	ENSP00000351614		CCDS13908.1			1	
KIAA1324	0	LGGM	GRCh37	1	109714502	109714502	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	16	5	.	.	ENST00000369939.3:c.482C>T	p.Pro161Leu	p.P161L	ENST00000369939	NM_020775.4	161	cCc/cTc	0	1	1	UPI00002051E0	0	NA	ENST00000369939		ENSG00000116299	29618		21	2.16		HGNC	p.P161L		KIAA1324		SNV							ENST00000369939	protein_coding	getma.org/?cm=var&var=hg19,1,109714502,C,T&fts=all		hmmpanther:PTHR22727,hmmpanther:PTHR22727:SF13		P/L		T	medium	665/3442		getma.org/?cm=msa&ty=f&p=K1324_HUMAN&rb=1&re=200&var=P161L	deleterious(0.03)	E9PS21_HUMAN,E9PMS2_HUMAN,E9PLY8_HUMAN,E9PLQ2_HUMAN			YES	KIAA1324,missense_variant,p.Pro161Leu,ENST00000369939,NM_020775.4;KIAA1324,missense_variant,p.Pro161Leu,ENST00000529753,NM_001267048.1;KIAA1324,missense_variant,p.Pro161Leu,ENST00000457623,;KIAA1324,missense_variant,p.Pro161Leu,ENST00000531664,;KIAA1324,3_prime_UTR_variant,,ENST00000527996,NM_001284352.1;KIAA1324,non_coding_transcript_exon_variant,,ENST00000490758,;							MODERATE	482/3042	P161L	K1324_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000358955		CCDS794.1			1	
SLC39A10	0	LGGM	GRCh37	2	196545688	196545688	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	37	5	.	.	ENST00000409086.3:c.922A>G	p.Thr308Ala	p.T308A	ENST00000409086	NM_001127257.1	308	Act/Gct	0	1		UPI000004A043	0	NA	ENST00000359634		ENSG00000196950	20861		42	1.59		HGNC	p.T308A	rs764237778	SLC39A10		SNV							ENST00000359634	protein_coding	getma.org/?cm=var&var=hg19,2,196545688,A,G&fts=all		hmmpanther:PTHR12191:SF7,hmmpanther:PTHR12191		T/A		G	low	1087/5322	1.50E-05	getma.org/?cm=msa&ty=f&p=S39AA_HUMAN&rb=3&re=381&var=T308A	tolerated(0.65)	Q8NC35_HUMAN,E7EV45_HUMAN,E7ENT5_HUMAN,C9J0F5_HUMAN,B4DGU0_HUMAN				SLC39A10,missense_variant,p.Thr308Ala,ENST00000409086,NM_001127257.1;SLC39A10,missense_variant,p.Thr308Ala,ENST00000359634,NM_020342.2;SLC39A10,5_prime_UTR_variant,,ENST00000541054,;SLC39A10,downstream_gene_variant,,ENST00000458054,;SLC39A10,downstream_gene_variant,,ENST00000418005,;SLC39A10,downstream_gene_variant,,ENST00000412905,;SLC39A10,missense_variant,p.Ile26Met,ENST00000430412,;SLC39A10,missense_variant,p.Ile26Met,ENST00000444421,;SLC39A10,non_coding_transcript_exon_variant,,ENST00000465851,;							MODERATE	922/2496	T308A	S39AA_HUMAN			Transcript		benign(0)	.	ENSP00000352655	8.24E-06	CCDS33353.1			1	
MCM3AP	0	LGGM	GRCh37	21	47685357	47685357	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	5	6	.	.	ENST00000397708.1:c.3112C>T	p.Pro1038Ser	p.P1038S	ENST00000397708		1038	Ccc/Tcc	0	1		UPI000012ED4A	0	NA	ENST00000291688		ENSG00000160294	6946		11	0.805		HGNC	p.P1038S		MCM3AP		SNV							ENST00000291688	protein_coding	getma.org/?cm=var&var=hg19,21,47685357,G,A&fts=all		hmmpanther:PTHR12436,hmmpanther:PTHR12436:SF18,Low_complexity_(Seg):seg		P/S		A	low	3148/6113		getma.org/?cm=msa&ty=f&p=MCM3A_HUMAN&rb=911&re=1110&var=P1038S	tolerated(0.57)	N0GVG8_HUMAN,B3KWZ4_HUMAN				MCM3AP,missense_variant,p.Pro1038Ser,ENST00000397708,;MCM3AP,missense_variant,p.Pro1038Ser,ENST00000291688,NM_003906.3;MCM3AP,downstream_gene_variant,,ENST00000479557,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;							MODERATE	3112/5943	P1038S	GANP_HUMAN			Transcript		benign(0.003)	.	ENSP00000291688		CCDS13734.1			1	
GSDMC	0	LGGM	GRCh37	8	130778026	130778026	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	23	6	.	.	ENST00000276708.4:c.418C>T	p.Pro140Ser	p.P140S	ENST00000276708	NM_031415.2	140	Cca/Tca	0	1	1	UPI0000071445	0	NA	ENST00000276708		ENSG00000147697	7151		29	1.815		HGNC	p.P140S	COSM3645046	GSDMC		SNV						1	ENST00000276708	protein_coding	getma.org/?cm=var&var=hg19,8,130778026,G,A&fts=all		Pfam_domain:PF04598,hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17		P/S		A	low	1300/2714		getma.org/?cm=msa&ty=f&p=GSDMC_HUMAN&rb=4&re=484&var=P140S	tolerated(0.11)				YES	GSDMC,missense_variant,p.Pro140Ser,ENST00000276708,NM_031415.2;					1		MODERATE	418/1527	P140S	GSDMC_HUMAN			Transcript		possibly_damaging(0.677)	.	ENSP00000276708		CCDS6360.1			1	
CDH4	0	LGGM	GRCh37	20	60419817	60419817	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	6	.	.	ENST00000360469.5:c.670T>C	p.Ser224Pro	p.S224P	ENST00000360469	NM_001794.3	224	Tcc/Ccc	0	1	1	UPI000015FE86	0	getma.org/pdb.php?prot=CADH4_HUMAN&from=174&to=268&var=S224P	ENST00000360469		ENSG00000179242	1763		23	-1.41		HGNC	p.S224P		CDH4		SNV							ENST00000360469	protein_coding	getma.org/?cm=var&var=hg19,20,60419817,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313		S/P		C	neutral	758/6511		getma.org/?cm=msa&ty=f&p=CADH4_HUMAN&rb=174&re=268&var=S224P	tolerated(1)	Q8ND09_HUMAN			YES	CDH4,missense_variant,p.Ser224Pro,ENST00000360469,NM_001794.3;CDH4,missense_variant,p.Ser150Pro,ENST00000543233,NM_001252339.1,NM_001252338.1;							MODERATE	670/2751	S224P	CADH4_HUMAN			Transcript		benign(0.002)	.	ENSP00000353656		CCDS13488.1			1	
TRPA1	0	LGGM	GRCh37	8	72973929	72973929	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	31	6	.	.	ENST00000262209.4:c.875T>C	p.Ile292Thr	p.I292T	ENST00000262209	NM_007332.2	292	aTa/aCa	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		37	1.81		HGNC	p.I292T		TRPA1		SNV			1				ENST00000262209	protein_coding	getma.org/?cm=var&var=hg19,8,72973929,A,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		I/T		G	low	1083/5223		getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=272&re=304&var=I292T	deleterious(0.01)				YES	TRPA1,missense_variant,p.Ile292Thr,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Ile144Thr,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,intron_variant,,ENST00000519068,;							MODERATE	875/3360	I292T	TRPA1_HUMAN			Transcript		possibly_damaging(0.762)	.	ENSP00000262209		CCDS34908.1			1	
ROBO3	0	LGGM	GRCh37	11	124745157	124745157	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	12	6	.	.	ENST00000397801.1:c.2224A>G	p.Ile742Val	p.I742V	ENST00000397801	NM_022370.3	742	Atc/Gtc	0	1	1	UPI000035AA82	0	getma.org/pdb.php?prot=ROBO3_HUMAN&from=674&to=756&var=I742V	ENST00000397801		ENSG00000154134	13433		18	1.355		HGNC	p.I720V		ROBO3		SNV			1				ENST00000538940	protein_coding	getma.org/?cm=var&var=hg19,11,124745157,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/V		G	low	2416/4569		getma.org/?cm=msa&ty=f&p=ROBO3_HUMAN&rb=674&re=756&var=I742V	tolerated(0.52)	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN			YES	ROBO3,missense_variant,p.Ile742Val,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Ile720Val,ENST00000538940,;ROBO3,upstream_gene_variant,,ENST00000543966,;ROBO3,upstream_gene_variant,,ENST00000525482,;ROBO3,upstream_gene_variant,,ENST00000528820,;ROBO3,upstream_gene_variant,,ENST00000528144,;ROBO3,upstream_gene_variant,,ENST00000531075,;ROBO3,upstream_gene_variant,,ENST00000526551,;ROBO3,upstream_gene_variant,,ENST00000532472,;ROBO3,upstream_gene_variant,,ENST00000531545,;ROBO3,upstream_gene_variant,,ENST00000527245,;ROBO3,upstream_gene_variant,,ENST00000529658,;ROBO3,upstream_gene_variant,,ENST00000525448,;ROBO3,upstream_gene_variant,,ENST00000527196,;ROBO3,upstream_gene_variant,,ENST00000534598,;ROBO3,upstream_gene_variant,,ENST00000524971,;ROBO3,upstream_gene_variant,,ENST00000525304,;ROBO3,upstream_gene_variant,,ENST00000528068,;ROBO3,upstream_gene_variant,,ENST00000531888,;ROBO3,upstream_gene_variant,,ENST00000530647,;ROBO3,upstream_gene_variant,,ENST00000531119,;							MODERATE	2224/4161	I742V	ROBO3_HUMAN			Transcript		benign(0.006)	.	ENSP00000380903		CCDS44755.1			1	
NTRK2	0	LGGM	GRCh37	9	87563424	87563424	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	10	6	.	.	ENST00000277120.3:c.1812G>C	p.Glu604Asp	p.E604D	ENST00000277120		604	gaG/gaC	0	1		UPI0000000C0E	0	getma.org/pdb.php?prot=NTRK2_HUMAN&from=538&to=807&var=E588D	ENST00000323115		ENSG00000148053	8032		16	3.505		HGNC	p.E588D		NTRK2		SNV			1				ENST00000376213	protein_coding	getma.org/?cm=var&var=hg19,9,87563424,G,C&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136,SMART_domains:SM00219,Superfamily_domains:SSF56112		E/D		C	high	2117/3708		getma.org/?cm=msa&ty=f&p=NTRK2_HUMAN&rb=538&re=807&var=E588D	deleterious(0)	S5MD53_HUMAN,Q8WXJ4_HUMAN,Q548C2_HUMAN				NTRK2,missense_variant,p.Glu604Asp,ENST00000376214,NM_006180.3;NTRK2,missense_variant,p.Glu588Asp,ENST00000376213,NM_001018064.1;NTRK2,missense_variant,p.Glu604Asp,ENST00000277120,;NTRK2,missense_variant,p.Glu588Asp,ENST00000323115,;							MODERATE	1764/2469	E588D	NTRK2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000314586		CCDS35050.1			1	
FCN1	0	LGGM	GRCh37	9	137808272	137808272	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	43	6	.	.	ENST00000371806.3:c.139C>T	p.Leu47Phe	p.L47F	ENST00000371806	NM_002003.3	47	Ctc/Ttc	0	1	1	UPI000012A5A7	0	NA	ENST00000371806		ENSG00000085265	3623		49	2.67		HGNC	p.L47F		FCN1		SNV							ENST00000371806	protein_coding	getma.org/?cm=var&var=hg19,9,137808272,G,A&fts=all		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF165		L/F		A	medium	231/1286		getma.org/?cm=msa&ty=f&p=FCN1_HUMAN&rb=1&re=49&var=L47F	deleterious(0)	Q92531_HUMAN			YES	FCN1,missense_variant,p.Leu47Phe,ENST00000371806,NM_002003.3;							MODERATE	139/981	L47F	FCN1_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000360871		CCDS6985.1			1	
ZNHIT6	0	LGGM	GRCh37	1	86167943	86167943	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	15	6	.	.	ENST00000370574.3:c.916A>T	p.Met306Leu	p.M306L	ENST00000370574		306	Atg/Ttg	0	1	1	UPI000006D8D2	0	NA	ENST00000370574		ENSG00000117174	26089		21	-1.755		HGNC	p.M306L		ZNHIT6		SNV							ENST00000370574	protein_coding	getma.org/?cm=var&var=hg19,1,86167943,T,A&fts=all		hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF3		M/L		A	neutral	1050/2797		getma.org/?cm=msa&ty=f&p=BCD1_HUMAN&rb=247&re=446&var=M306L	tolerated(0.89)				YES	ZNHIT6,missense_variant,p.Met267Leu,ENST00000431532,NM_001170670.1,NM_017953.3;ZNHIT6,missense_variant,p.Met306Leu,ENST00000370574,;							MODERATE	916/1413	M306L	BCD1_HUMAN			Transcript		benign(0.002)	.	ENSP00000359606		CCDS707.1			1	
SNX4	0	LGGM	GRCh37	3	125179660	125179660	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	19	6	.	.	ENST00000251775.4:c.899A>G	p.Tyr300Cys	p.Y300C	ENST00000251775	NM_003794.3	300	tAt/tGt	0	1	1	UPI000003586D	0	NA	ENST00000251775		ENSG00000114520	11175		25	1.59		HGNC	p.Y155C		SNX4		SNV							ENST00000536067	protein_coding	getma.org/?cm=var&var=hg19,3,125179660,T,C&fts=all		hmmpanther:PTHR10555:SF19,hmmpanther:PTHR10555		Y/C		C	low	924/2506		getma.org/?cm=msa&ty=f&p=SNX4_HUMAN&rb=185&re=384&var=Y300C	tolerated(0.05)	Q9H398_HUMAN,B4DQV4_HUMAN			YES	SNX4,missense_variant,p.Tyr300Cys,ENST00000251775,NM_003794.3;SNX4,missense_variant,p.Tyr155Cys,ENST00000536067,;SNX4,upstream_gene_variant,,ENST00000482965,;SNX4,3_prime_UTR_variant,,ENST00000471751,;							MODERATE	899/1353	Y300C	SNX4_HUMAN			Transcript		benign(0.02)	.	ENSP00000251775		CCDS3032.1			1	
PRKAB2	0	LGGM	GRCh37	1	146634035	146634035	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	64	7	.	.	ENST00000254101.3:c.656A>G	p.Lys219Arg	p.K219R	ENST00000254101	NM_005399.4	219	aAa/aGa	0	1	1	UPI00001250AF	0	getma.org/pdb.php?prot=AAKB2_HUMAN&from=154&to=272&var=K219R	ENST00000254101		ENSG00000131791	9379		71	2.385		HGNC	p.K137R		PRKAB2		SNV							ENST00000425272	protein_coding	getma.org/?cm=var&var=hg19,1,146634035,T,C&fts=all		Pfam_domain:PF04739,hmmpanther:PTHR10343,hmmpanther:PTHR10343:SF43,SMART_domains:SM01010,Superfamily_domains:SSF160219		K/R		C	medium	795/5417		getma.org/?cm=msa&ty=f&p=AAKB2_HUMAN&rb=154&re=272&var=K219R	tolerated(0.1)				YES	PRKAB2,missense_variant,p.Lys219Arg,ENST00000254101,NM_005399.4;PRKAB2,missense_variant,p.Lys137Arg,ENST00000425272,;PRKAB2,non_coding_transcript_exon_variant,,ENST00000496858,;PRKAB2,downstream_gene_variant,,ENST00000474939,;							MODERATE	656/819	K219R	AAKB2_HUMAN			Transcript		benign(0.193)	.	ENSP00000254101		CCDS925.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232577607	232577607	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	14	7	.	.	ENST00000366630.1:c.3445T>C	p.Ser1149Pro	p.S1149P	ENST00000366630		1149	Tcc/Ccc	0	1		UPI00001D7D6A	0	NA	ENST00000262861		ENSG00000116991	23800		21	1.335		HGNC	p.S223P	COSM1225779	SIPA1L2		SNV						1	ENST00000308942	protein_coding	getma.org/?cm=var&var=hg19,1,232577607,A,G&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		S/P		G	low	3672/6555		getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=1061&re=1379&var=S1149P	tolerated(0.06)					SIPA1L2,missense_variant,p.Ser1149Pro,ENST00000366630,;SIPA1L2,missense_variant,p.Ser1149Pro,ENST00000262861,NM_020808.3;SIPA1L2,missense_variant,p.Ser223Pro,ENST00000308942,;					1		MODERATE	3445/5169	S1149P	SI1L2_HUMAN			Transcript		possibly_damaging(0.741)	.	ENSP00000262861		CCDS41474.1			1	
POMGNT1	0	LGGM	GRCh37	1	46655625	46655625	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	5	7	.	.	ENST00000371992.1:c.1686T>G	p.Cys562Trp	p.C562W	ENST00000371992	NM_001243766.1	562	tgT/tgG	0	1		UPI000013FEED	0	NA	ENST00000371984		ENSG00000085998	19139		12	2.75		HGNC	p.C562W		POMGNT1		SNV			1				ENST00000371986	protein_coding	getma.org/?cm=var&var=hg19,1,46655625,A,C&fts=all		Pfam_domain:PF03071,hmmpanther:PTHR10468,hmmpanther:PTHR10468:SF4,Superfamily_domains:SSF53448		C/W		C	medium	1844/2728		getma.org/?cm=msa&ty=f&p=PMGT1_HUMAN&rb=288&re=625&var=C562W						POMGNT1,missense_variant,p.Cys562Trp,ENST00000371992,NM_001243766.1;POMGNT1,missense_variant,p.Cys562Trp,ENST00000371984,NM_017739.3;POMGNT1,missense_variant,p.Cys562Trp,ENST00000371986,;POMGNT1,missense_variant,p.Cys540Trp,ENST00000535522,;POMGNT1,3_prime_UTR_variant,,ENST00000396420,;TSPAN1,downstream_gene_variant,,ENST00000372003,NM_005727.3;POMGNT1,non_coding_transcript_exon_variant,,ENST00000480972,;POMGNT1,downstream_gene_variant,,ENST00000485714,;TSPAN1,downstream_gene_variant,,ENST00000498443,;TSPAN1,downstream_gene_variant,,ENST00000475163,;TSPAN1,downstream_gene_variant,,ENST00000464786,;POMGNT1,downstream_gene_variant,,ENST00000497439,;POMGNT1,downstream_gene_variant,,ENST00000477114,;POMGNT1,downstream_gene_variant,,ENST00000463030,;TSPAN1,downstream_gene_variant,,ENST00000470318,;TSPAN1,downstream_gene_variant,,ENST00000472170,;POMGNT1,upstream_gene_variant,,ENST00000475642,;							MODERATE	1686/1983	C562W	PMGT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361052		CCDS531.1			1	
XIRP1	0	LGGM	GRCh37	3	39227405	39227405	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	16	7	.	.	ENST00000340369.3:c.3532C>T	p.Pro1178Ser	p.P1178S	ENST00000340369	NM_194293.2	1178	Ccc/Tcc	0	1	1	UPI00001BFB06	0	NA	ENST00000340369		ENSG00000168334	14301		23	0.755		HGNC	p.P1178S		XIRP1		SNV							ENST00000340369	protein_coding	getma.org/?cm=var&var=hg19,3,39227405,G,A&fts=all		hmmpanther:PTHR22591		P/S		A	neutral	3761/6460		getma.org/?cm=msa&ty=f&p=XIRP1_HUMAN&rb=951&re=1841&var=P1178S	tolerated_low_confidence(0.1)				YES	XIRP1,missense_variant,p.Pro1178Ser,ENST00000340369,NM_194293.2;XIRP1,intron_variant,,ENST00000396251,NM_001198621.1;XIRP1,intron_variant,,ENST00000421646,;							MODERATE	3532/5532	P1178S	XIRP1_HUMAN			Transcript		benign(0.01)	.	ENSP00000343140		CCDS2683.1			1	
ATF7IP	0	LGGM	GRCh37	12	14628830	14628830	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	5	7	.	.	ENST00000261168.4:c.2869A>T	p.Lys957Ter	p.K957*	ENST00000261168	NM_018179.3	957	Aaa/Taa	0	1	1	UPI00001FB6B1	0	NA	ENST00000261168		ENSG00000171681	20092		12	0		HGNC	p.K957X		ATF7IP		SNV							ENST00000261168	protein_coding	getma.org/?cm=var&var=hg19,12,14628830,A,T&fts=all		hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210		K/*		T	NA	3022/4656		NA		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			YES	ATF7IP,stop_gained,p.Lys965Ter,ENST00000544627,NM_181352.1;ATF7IP,stop_gained,p.Lys957Ter,ENST00000261168,NM_018179.3;ATF7IP,stop_gained,p.Lys956Ter,ENST00000536444,NM_001286514.1;ATF7IP,stop_gained,p.Lys956Ter,ENST00000543189,NM_001286515.1;ATF7IP,stop_gained,p.Lys957Ter,ENST00000540793,;ATF7IP,upstream_gene_variant,,ENST00000535738,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000535179,;							HIGH	2869/3813	K957*	MCAF1_HUMAN			Transcript			.	ENSP00000261168		CCDS8663.1			1	
HDLBP	0	LGGM	GRCh37	2	242192451	242192451	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	8	.	.	ENST00000391975.1:c.1294-1G>T		p.X432_splice	ENST00000391975	NM_203346.3			0	1	1	UPI00001AEF85	0		ENST00000391975		ENSG00000115677	4857		25			HGNC	-		HDLBP		SNV							ENST00000391975	protein_coding							A		-/6372				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			YES	HDLBP,splice_acceptor_variant,,ENST00000391975,NM_203346.3;HDLBP,splice_acceptor_variant,,ENST00000310931,NM_005336.4;HDLBP,splice_acceptor_variant,,ENST00000391976,;HDLBP,splice_acceptor_variant,,ENST00000427183,NM_001243900.1;HDLBP,splice_acceptor_variant,,ENST00000373292,;HDLBP,splice_acceptor_variant,,ENST00000453141,;HDLBP,downstream_gene_variant,,ENST00000428482,;HDLBP,downstream_gene_variant,,ENST00000452065,;HDLBP,downstream_gene_variant,,ENST00000422933,;HDLBP,upstream_gene_variant,,ENST00000452931,;HDLBP,downstream_gene_variant,,ENST00000442714,;HDLBP,intron_variant,,ENST00000477477,;HDLBP,upstream_gene_variant,,ENST00000476807,;HDLBP,splice_acceptor_variant,,ENST00000467435,;HDLBP,intron_variant,,ENST00000498595,;HDLBP,upstream_gene_variant,,ENST00000487169,;HDLBP,downstream_gene_variant,,ENST00000470710,;HDLBP,upstream_gene_variant,,ENST00000460826,;							HIGH	1294/3807		VIGLN_HUMAN			Transcript			.	ENSP00000375836		CCDS2547.1			1	
HERC3	0	LGGM	GRCh37	4	89577065	89577065	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	39	8	.	.	ENST00000402738.1:c.948C>G	p.Ile316Met	p.I316M	ENST00000402738	NM_014606.2	316	atC/atG	0	1		UPI000012C614	0	NA	ENST00000264345		ENSG00000138641	4876		47	1.655		HGNC	p.I316M		HERC3		SNV							ENST00000264345	protein_coding	getma.org/?cm=var&var=hg19,4,89577065,C,G&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,Prints_domain:PR00633,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF285,Superfamily_domains:SSF50985		I/M		G	low	978/4758		getma.org/?cm=msa&ty=f&p=HERC3_HUMAN&rb=313&re=377&var=I316M	tolerated(0.2)	Q4W5H5_HUMAN,F5GWU0_HUMAN,D6RAT5_HUMAN,C9JKA7_HUMAN,C9JFL2_HUMAN,C9J8E7_HUMAN,C9J6Z1_HUMAN,B4DK41_HUMAN				HERC3,missense_variant,p.Ile316Met,ENST00000402738,NM_014606.2,NM_001271602.1;HERC3,missense_variant,p.Ile316Met,ENST00000264345,;HERC3,missense_variant,p.Ile316Met,ENST00000407637,;HERC3,upstream_gene_variant,,ENST00000543130,;HERC3,downstream_gene_variant,,ENST00000452979,;HERC3,downstream_gene_variant,,ENST00000431413,;HERC3,upstream_gene_variant,,ENST00000470815,;							MODERATE	948/3153	I316M	HERC3_HUMAN			Transcript		benign(0.071)	.	ENSP00000264345		CCDS34028.1			1	
SOWAHA	0	LGGM	GRCh37	5	132150935	132150935	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	15	8	.	.	ENST00000378693.2:c.1622T>C	p.Leu541Pro	p.L541P	ENST00000378693	NM_175873.4	541	cTa/cCa	0	1	1	UPI0000413F35	0	NA	ENST00000378693		ENSG00000198944	27033		23	1.87		HGNC	p.L541P		SOWAHA		SNV							ENST00000378693	protein_coding	getma.org/?cm=var&var=hg19,5,132150935,T,C&fts=all		hmmpanther:PTHR14491,hmmpanther:PTHR14491:SF2		L/P		C	low	1903/3456		getma.org/?cm=msa&ty=f&p=SWAHA_HUMAN&rb=401&re=549&var=L541P	deleterious_low_confidence(0)				YES	SOWAHA,missense_variant,p.Leu541Pro,ENST00000378693,NM_175873.4;AC004775.5,downstream_gene_variant,,ENST00000607389,;							MODERATE	1622/1650	L541P	SWAHA_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000367965		CCDS43361.1			1	
ADCY6	0	LGGM	GRCh37	12	49170041	49170041	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	10	8	.	.	ENST00000307885.4:c.1628A>G	p.Lys543Arg	p.K543R	ENST00000307885	NM_015270.3	543	aAg/aGg	0	1	1	UPI000003EC29	0	getma.org/pdb.php?prot=ADCY6_HUMAN&from=370&to=554&var=K543R	ENST00000307885		ENSG00000174233	237		18	1.04		HGNC	p.K543R		ADCY6		SNV			1				ENST00000550422	protein_coding	getma.org/?cm=var&var=hg19,12,49170041,T,C&fts=all		Gene3D:3.30.70.1230,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,Superfamily_domains:SSF55073		K/R		C	low	2323/6464		getma.org/?cm=msa&ty=f&p=ADCY6_HUMAN&rb=370&re=554&var=K543R	tolerated(0.17)	Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,missense_variant,p.Lys543Arg,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Lys543Arg,ENST00000357869,;ADCY6,missense_variant,p.Lys543Arg,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,;							MODERATE	1628/3507	K543R	ADCY6_HUMAN			Transcript		possibly_damaging(0.552)	.	ENSP00000311405		CCDS8767.1			1	
ZNF121	0	LGGM	GRCh37	19	9677220	9677220	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	8	.	.	ENST00000320451.6:c.569A>G	p.His190Arg	p.H190R	ENST00000320451	NM_001008727.2	190	cAt/cGt	0	1	1	UPI0000203287	0	getma.org/pdb.php?prot=ZN121_HUMAN&from=186&to=210&var=H190R	ENST00000320451		ENSG00000197961	12904		25	3.925		HGNC	p.H190R		ZNF121		SNV							ENST00000586602	protein_coding	getma.org/?cm=var&var=hg19,19,9677220,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF119,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/R		C	high	801/1563		getma.org/?cm=msa&ty=f&p=ZN121_HUMAN&rb=166&re=230&var=H190R	deleterious(0.01)	K7EQI1_HUMAN			YES	ZNF121,missense_variant,p.His190Arg,ENST00000586602,;ZNF121,missense_variant,p.His190Arg,ENST00000320451,NM_001008727.2;ZNF121,downstream_gene_variant,,ENST00000591447,;ZNF121,upstream_gene_variant,,ENST00000590933,;							MODERATE	569/1173	H190R	ZN121_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000326967		CCDS32902.1			1	
TMEM101	0	LGGM	GRCh37	17	42089400	42089400	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	18	8	.	.	ENST00000589334.1:c.670T>G	p.Tyr224Asp	p.Y224D	ENST00000589334		224	Tac/Gac	0	1		UPI000006E158	0	NA	ENST00000206380		ENSG00000091947	28653		26	0.975		HGNC	p.Y166D		TMEM101		SNV							ENST00000542039	protein_coding	getma.org/?cm=var&var=hg19,17,42089400,A,C&fts=all		Pfam_domain:PF15111,hmmpanther:PTHR31034,hmmpanther:PTHR31034:SF1		Y/D		C	low	695/1536		getma.org/?cm=msa&ty=f&p=TM101_HUMAN&rb=1&re=255&var=Y224D	deleterious(0)	K7ERS4_HUMAN,K7EPU9_HUMAN,K7EM72_HUMAN,B4DFS4_HUMAN				TMEM101,missense_variant,p.Tyr224Asp,ENST00000589334,;TMEM101,missense_variant,p.Tyr224Asp,ENST00000206380,NM_032376.2;TMEM101,missense_variant,p.Tyr166Asp,ENST00000542039,;NAGS,downstream_gene_variant,,ENST00000293404,NM_153006.2;NAGS,downstream_gene_variant,,ENST00000589767,;TMEM101,downstream_gene_variant,,ENST00000587529,;TMEM101,downstream_gene_variant,,ENST00000585950,;TMEM101,downstream_gene_variant,,ENST00000586174,;TMEM101,downstream_gene_variant,,ENST00000592127,;TMEM101,downstream_gene_variant,,ENST00000590905,;NAGS,downstream_gene_variant,,ENST00000592915,;							MODERATE	670/774	Y224D	TM101_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000206380		CCDS11474.1			1	
XYLT1	0	LGGM	GRCh37	16	17202835	17202835	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	18	8	.	.	ENST00000261381.6:c.2597C>T	p.Ala866Val	p.A866V	ENST00000261381	NM_022166.3	866	gCc/gTc	0	1	1	UPI000000DCCE	0	NA	ENST00000261381		ENSG00000103489	15516		26	1.06		HGNC	p.A866V		XYLT1		SNV			1				ENST00000261381	protein_coding	getma.org/?cm=var&var=hg19,16,17202835,G,A&fts=all				A/V		A	low	2682/9891		getma.org/?cm=msa&ty=f&p=XYLT1_HUMAN&rb=795&re=959&var=A866V	tolerated(0.37)				YES	XYLT1,missense_variant,p.Ala866Val,ENST00000261381,NM_022166.3;							MODERATE	2597/2880	A866V	XYLT1_HUMAN			Transcript		benign(0.211)	.	ENSP00000261381		CCDS10569.1			1	
DERA	0	LGGM	GRCh37	12	16189164	16189164	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	4	9	.	.	ENST00000428559.2:c.751-2A>T		p.X251_splice	ENST00000428559	NM_015954.2			0	1	1	UPI00001291A2	0		ENST00000428559		ENSG00000023697	24269		13			HGNC	-		DERA		SNV							ENST00000428559	protein_coding							T		-/1709				G3V158_HUMAN,E9PPK3_HUMAN			YES	DERA,splice_acceptor_variant,,ENST00000428559,NM_015954.2;DERA,splice_acceptor_variant,,ENST00000526530,;DERA,splice_acceptor_variant,,ENST00000532964,;DERA,downstream_gene_variant,,ENST00000533447,;DERA,downstream_gene_variant,,ENST00000531803,;DERA,splice_acceptor_variant,,ENST00000532573,;DERA,splice_acceptor_variant,,ENST00000526521,;DERA,splice_acceptor_variant,,ENST00000530274,;DERA,downstream_gene_variant,,ENST00000528821,;							HIGH	751/957		DEOC_HUMAN			Transcript			.	ENSP00000416583		CCDS44838.1			1	
RESP18	0	LGGM	GRCh37	2	220195547	220195547	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	11	9	.	.	ENST00000333527.5:c.283G>A	p.Ala95Thr	p.A95T	ENST00000333527	NM_001007089.3	95	Gcc/Acc	0	1	1	UPI0000F576C0	0	NA	ENST00000333527		ENSG00000182698	33762		20	0.42		HGNC	p.A95T		RESP18		SNV							ENST00000333527	protein_coding	getma.org/?cm=var&var=hg19,2,220195547,C,T&fts=all		hmmpanther:PTHR17314,hmmpanther:PTHR17314:SF0,Pfam_domain:PF14948		A/T		T	neutral	283/795		getma.org/?cm=msa&ty=f&p=RES18_HUMAN&rb=2&re=155&var=A53T	tolerated_low_confidence(1)				YES	RESP18,missense_variant,p.Ala95Thr,ENST00000333527,NM_001007089.3;RESP18,5_prime_UTR_variant,,ENST00000392083,;RESP18,non_coding_transcript_exon_variant,,ENST00000470719,;							MODERATE	283/687	A53T	RES18_HUMAN			Transcript		benign(0.042)	.	ENSP00000330269		CCDS33382.2			1	
RESP18	0	LGGM	GRCh37	2	220195546	220195546	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	11	9	.	.	ENST00000333527.5:c.284C>A	p.Ala95Asp	p.A95D	ENST00000333527	NM_001007089.3	95	gCc/gAc	0	1	1	UPI0000F576C0	0	NA	ENST00000333527		ENSG00000182698	33762		20	1.87		HGNC	p.A95D		RESP18		SNV							ENST00000333527	protein_coding	getma.org/?cm=var&var=hg19,2,220195546,G,T&fts=all		hmmpanther:PTHR17314,hmmpanther:PTHR17314:SF0,Pfam_domain:PF14948		A/D		T	low	284/795		getma.org/?cm=msa&ty=f&p=RES18_HUMAN&rb=2&re=155&var=A53D	deleterious_low_confidence(0.01)				YES	RESP18,missense_variant,p.Ala95Asp,ENST00000333527,NM_001007089.3;RESP18,5_prime_UTR_variant,,ENST00000392083,;RESP18,non_coding_transcript_exon_variant,,ENST00000470719,;							MODERATE	284/687	A53D	RES18_HUMAN			Transcript		possibly_damaging(0.865)	.	ENSP00000330269		CCDS33382.2			1	
GPR61	0	LGGM	GRCh37	1	110085717	110085717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	23	9	.	.	ENST00000527748.1:c.73C>A	p.Pro25Thr	p.P25T	ENST00000527748	NM_031936.4	25	Ccc/Acc	0	1		UPI000003BCCB	0	NA	ENST00000404129		ENSG00000156097	13300		32	0.345		HGNC	p.P25T		GPR61		SNV							ENST00000469383	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,110085717,C,A&fts=all		hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF5		P/T		A	neutral	756/2834		getma.org/?cm=msa&ty=f&p=GPR61_HUMAN&rb=1&re=58&var=P25T	tolerated(0.42)	Q59GL3_HUMAN,G4XH66_HUMAN				GPR61,missense_variant,p.Pro25Thr,ENST00000527748,NM_031936.4;RP5-1160K1.8,intron_variant,,ENST00000526411,;GPR61,upstream_gene_variant,,ENST00000526744,;GPR61,downstream_gene_variant,,ENST00000533959,;GPR61,missense_variant,p.Pro25Thr,ENST00000404129,;GPR61,missense_variant,p.Pro25Thr,ENST00000469383,;							MODERATE	73/1356	P25T	GPR61_HUMAN			Transcript		benign(0.001)	.	ENSP00000385422		CCDS801.1			1	
NUTM2F	0	LGGM	GRCh37	9	97088100	97088100	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	9	9	.	.	ENST00000253262.4:c.133A>T	p.Thr45Ser	p.T45S	ENST00000253262	NM_017561.1	45	Act/Tct	0	1	1	UPI00001D771D	0	NA	ENST00000253262		ENSG00000130950	23450		18	1.5		HGNC	p.T45S	rs768253061	NUTM2F		SNV							ENST00000335456	protein_coding	getma.org/?cm=var&var=hg19,9,97088100,T,A&fts=all		Pfam_domain:PF12881,hmmpanther:PTHR22879,hmmpanther:PTHR22879:SF12		T/S		A	low	154/2561	3.11E-05	getma.org/?cm=msa&ty=f&p=FA22F_HUMAN&rb=8&re=329&var=T45S	tolerated(0.28)				YES	NUTM2F,missense_variant,p.Thr45Ser,ENST00000335456,;NUTM2F,missense_variant,p.Thr45Ser,ENST00000253262,NM_017561.1;NUTM2F,missense_variant,p.Thr45Ser,ENST00000341207,;							MODERATE	133/2271	T45S	NTM2F_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000253262	1.65E-05	CCDS47994.1			1	
BCR	0	LGGM	GRCh37	22	23603681	23603681	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	35	9	.	.	ENST00000305877.8:c.1706A>T	p.Gln569Leu	p.Q569L	ENST00000305877	NM_004327.3	569	cAg/cTg	0	1	1	UPI000016A088	0	getma.org/pdb.php?prot=BCR_HUMAN&from=502&to=690&var=Q569L	ENST00000305877		ENSG00000186716	1014		44	2.25		HGNC	p.Q89L		BCR		SNV			1				ENST00000427791	protein_coding	getma.org/?cm=var&var=hg19,22,23603681,A,T&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR23182:SF3,hmmpanther:PTHR23182,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065		Q/L		T	medium	2457/7082		getma.org/?cm=msa&ty=f&p=BCR_HUMAN&rb=502&re=690&var=Q569L	deleterious(0.01)				YES	BCR,missense_variant,p.Gln569Leu,ENST00000305877,NM_004327.3;BCR,missense_variant,p.Gln569Leu,ENST00000359540,NM_021574.2;BCR,missense_variant,p.Gln89Leu,ENST00000427791,;RN7SL263P,downstream_gene_variant,,ENST00000467969,;BCR,downstream_gene_variant,,ENST00000479188,;BCR,downstream_gene_variant,,ENST00000480973,;FBXW4P1,upstream_gene_variant,,ENST00000426721,;							MODERATE	1706/3816	Q569L	BCR_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000303507		CCDS13806.1			1	
CILP2	0	LGGM	GRCh37	19	19655326	19655326	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	11	9	.	.	ENST00000291495.5:c.1972G>A	p.Val658Met	p.V658M	ENST00000291495	NM_153221.2	658	Gtg/Atg	0	1	1	UPI000013E04D	0	NA	ENST00000291495		ENSG00000160161	24213		20	1.15		HGNC	p.V664M	rs766713472	CILP2	0.000871	SNV							ENST00000586018	protein_coding	getma.org/?cm=var&var=hg19,19,19655326,G,A&fts=all		hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031		V/M		A	low	2057/4199		getma.org/?cm=msa&ty=f&p=CILP2_HUMAN&rb=399&re=1132&var=V658M	deleterious(0.01)				YES	CILP2,missense_variant,p.Val664Met,ENST00000586018,;CILP2,missense_variant,p.Val658Met,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;							MODERATE	1972/3471	V658M	CILP2_HUMAN			Transcript		benign(0.17)	common_variant	ENSP00000291495	0.000102	CCDS12405.1			1	
TTN	0	LGGM	GRCh37	2	179487457	179487457	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	13	9	.	.	ENST00000589042.1:c.44853T>C	p.Leu14951=	p.L14951=	ENST00000589042	NM_001267550.1	14951	ctT/ctC	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		22			HGNC	p.L6011L		TTN		SNV			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		L		G		40155/104301				C9JQJ2_HUMAN				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,,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,;							LOW	39930/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
NRXN3	0	LGGM	GRCh37	14	79432688	79432688	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	32	9	.	.	ENST00000554719.1:c.1597G>A	p.Gly533Ser	p.G533S	ENST00000554719	NM_004796.5	533	Ggc/Agc	0	1	1	UPI0000167BBA	0		ENST00000554719		ENSG00000021645	8010		41			HGNC	p.G533S		NRXN3		SNV							ENST00000335750	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		G/S		A		2088/4156			deleterious(0)	G3V4R9_HUMAN,G3V247_HUMAN			YES	NRXN3,missense_variant,p.Gly533Ser,ENST00000554719,NM_004796.5;NRXN3,missense_variant,p.Gly533Ser,ENST00000335750,;NRXN3,missense_variant,p.Gly895Ser,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;							MODERATE	1597/3186		NRX3A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000451648		CCDS9870.1			1	
DZIP3	0	LGGM	GRCh37	3	108407706	108407706	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	10	.	.	ENST00000361582.3:c.3451T>C	p.Cys1151Arg	p.C1151R	ENST00000361582	NM_014648.3	1151	Tgt/Cgt	0	1	1	UPI000006E7D4	0	getma.org/pdb.php?prot=DZIP3_HUMAN&from=1146&to=1190&var=C1151R	ENST00000361582		ENSG00000198919	30938		27	4.42		HGNC	p.C1151R		DZIP3		SNV							ENST00000463306	protein_coding	getma.org/?cm=var&var=hg19,3,108407706,T,C&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15,SMART_domains:SM00184,Superfamily_domains:SSF57850		C/R		C	high	3681/5350		getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=1146&re=1190&var=C1151R	deleterious(0)	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,missense_variant,p.Cys1151Arg,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Cys1151Arg,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							MODERATE	3451/3627	C1151R	DZIP3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000355028		CCDS2952.1			1	
WDR49	0	LGGM	GRCh37	3	167246967	167246967	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	22	10	.	.	ENST00000308378.3:c.1223A>T	p.Lys408Met	p.K408M	ENST00000308378	NM_178824.3	408	aAg/aTg	0	1	1	UPI00000746AD	0	NA	ENST00000308378		ENSG00000174776	26587		32	2.105		HGNC	p.K408M		WDR49		SNV							ENST00000308378	protein_coding	getma.org/?cm=var&var=hg19,3,167246967,T,A&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF132,hmmpanther:PTHR22844,PROSITE_profiles:PS50294		K/M		A	medium	1529/2594		getma.org/?cm=msa&ty=f&p=WDR49_HUMAN&rb=311&re=464&var=K408M	deleterious(0)				YES	WDR49,missense_variant,p.Lys408Met,ENST00000308378,NM_178824.3;WDR49,missense_variant,p.Lys484Met,ENST00000472600,;WDR49,missense_variant,p.Lys472Met,ENST00000453925,;WDR49,missense_variant,p.Lys233Met,ENST00000476376,;WDR49,missense_variant,p.Lys46Met,ENST00000493061,;WDR49,intron_variant,,ENST00000479765,;WDR49,downstream_gene_variant,,ENST00000460448,;							MODERATE	1223/2094	K408M	WDR49_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000311343		CCDS3201.1			1	
INSRR	0	LGGM	GRCh37	1	156811205	156811205	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	36	10	.	.	ENST00000368195.3:c.3643G>C	p.Glu1215Gln	p.E1215Q	ENST00000368195	NM_014215.2	1215	Gag/Cag	0	1	1	UPI000012D8BD	0		ENST00000368195		ENSG00000027644	6093		46			HGNC	p.E1215Q		INSRR		SNV							ENST00000368195	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF56112		E/Q		G		4040/5101			tolerated(0.14)	I6U4P1_HUMAN			YES	INSRR,missense_variant,p.Glu1215Gln,ENST00000368195,NM_014215.2;NTRK1,intron_variant,,ENST00000392302,NM_001007792.1;NTRK1,intron_variant,,ENST00000489021,;NTRK1,intron_variant,,ENST00000530298,;NTRK1,intron_variant,,ENST00000497019,;							MODERATE	3643/3894		INSRR_HUMAN			Transcript		benign(0.025)	.	ENSP00000357178		CCDS1160.1			1	
ASCC3	0	LGGM	GRCh37	6	101054880	101054880	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	20	10	.	.	ENST00000369162.2:c.4870C>T	p.His1624Tyr	p.H1624Y	ENST00000369162	NM_006828.2	1624	Cat/Tat	0	1	1	UPI000014145A	0	getma.org/pdb.php?prot=ASCC3_HUMAN&from=1544&to=1739&var=H1624Y	ENST00000369162		ENSG00000112249	18697		30	2.33		HGNC	p.H1624Y		ASCC3		SNV							ENST00000369162	protein_coding	getma.org/?cm=var&var=hg19,6,101054880,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF8,SMART_domains:SM00490,Superfamily_domains:SSF52540		H/Y		A	medium	5215/8146		getma.org/?cm=msa&ty=f&p=ASCC3_HUMAN&rb=1544&re=1739&var=H1624Y	deleterious(0.04)	E5RFZ0_HUMAN			YES	ASCC3,missense_variant,p.His1624Tyr,ENST00000369162,NM_006828.2;							MODERATE	4870/6609	H1624Y	ASCC3_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000358159		CCDS5046.1			1	
C19orf80	0	LGGM	GRCh37	19	11350349	11350349	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	11	10	.	.	ENST00000252453.8:c.36G>A	p.Leu12=	p.L12=	ENST00000252453	NM_018687.6	12	ctG/ctA	0	1	1	UPI000003F538	0		ENST00000252453		ENSG00000130173	24933		21			HGNC	p.L12L		C19orf80		SNV							ENST00000252453	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR21463		L		A		55/872				K7EIY2_HUMAN			YES	C19orf80,synonymous_variant,p.=,ENST00000252453,NM_018687.6;DOCK6,intron_variant,,ENST00000294618,NM_020812.3;C19orf80,intron_variant,,ENST00000591200,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000590680,;DOCK6,upstream_gene_variant,,ENST00000585904,;C19orf80,upstream_gene_variant,,ENST00000587543,;DOCK6,upstream_gene_variant,,ENST00000591750,;							LOW	36/597		BETAT_HUMAN			Transcript			.	ENSP00000252453		CCDS54220.1			1	
CNDP2	0	LGGM	GRCh37	18	72167249	72167249	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	9	10	.	.	ENST00000324262.4:c.41A>G	p.Asn14Ser	p.N14S	ENST00000324262	NM_018235.2	14	aAt/aGt	0	1	1	UPI00000463FE	0	getma.org/pdb.php?prot=CNDP2_HUMAN&from=1&to=94&var=N14S	ENST00000324262		ENSG00000133313	24437		19	2.06		HGNC	p.N14S		CNDP2		SNV							ENST00000579583	protein_coding	getma.org/?cm=var&var=hg19,18,72167249,A,G&fts=all		hmmpanther:PTHR11014:SF51,hmmpanther:PTHR11014,Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,Superfamily_domains:SSF53187		N/S		G	medium	357/2804		getma.org/?cm=msa&ty=f&p=CNDP2_HUMAN&rb=1&re=94&var=N14S	tolerated(0.41)	Q9NW02_HUMAN,J3QRD0_HUMAN,J3QR27_HUMAN,J3QQN6_HUMAN,J3QLU1_HUMAN,J3QKT2_HUMAN,J3QKQ0_HUMAN,J3KSV5_HUMAN,J3KSS4_HUMAN,J3KRD5_HUMAN,B4DV28_HUMAN			YES	CNDP2,missense_variant,p.Asn14Ser,ENST00000324262,NM_018235.2;CNDP2,missense_variant,p.Asn14Ser,ENST00000579847,;CNDP2,missense_variant,p.Asn14Ser,ENST00000324301,NM_001168499.1;CNDP2,missense_variant,p.Asn14Ser,ENST00000583785,;CNDP2,missense_variant,p.Asn14Ser,ENST00000584613,;CNDP2,missense_variant,p.Asn14Ser,ENST00000577600,;CNDP2,missense_variant,p.Asn14Ser,ENST00000583216,;CNDP2,missense_variant,p.Asn14Ser,ENST00000581513,;CNDP2,missense_variant,p.Asn14Ser,ENST00000583203,;CNDP2,missense_variant,p.Asn14Ser,ENST00000581912,;CNDP2,missense_variant,p.Asn14Ser,ENST00000581272,;CNDP2,missense_variant,p.Asn14Ser,ENST00000582589,;CNDP2,missense_variant,p.Asn14Ser,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.Asn14Ser,ENST00000582260,;CNDP2,non_coding_transcript_exon_variant,,ENST00000584768,;CNDP2,non_coding_transcript_exon_variant,,ENST00000583399,;							MODERATE	41/1428	N14S	CNDP2_HUMAN			Transcript		benign(0.008)	.	ENSP00000325548		CCDS12006.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	16	.	.	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33P	ENST00000349496		ENSG00000168036	2514		46	2.46		HGNC	p.S33P	COSM5682	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33P	CTNB1_HUMAN			Transcript		benign(0.423)	.	ENSP00000344456		CCDS2694.1			1	
DYRK1A	0	LGGM	GRCh37	21	38877656	38877656	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	11	.	.	ENST00000398960.2:c.1310G>T	p.Arg437Leu	p.R437L	ENST00000398960	NM_001396.3	437	cGa/cTa	0	1	1	UPI0000129A31	0	getma.org/pdb.php?prot=DYR1A_HUMAN&from=159&to=479&var=R437L	ENST00000398960		ENSG00000157540	3091		37	1.23		HGNC	p.R437L		DYRK1A		SNV			1				ENST00000338785	protein_coding	getma.org/?cm=var&var=hg19,21,38877656,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28,Low_complexity_(Seg):seg,SMART_domains:SM00220		R/L		T	low	1385/2422		getma.org/?cm=msa&ty=f&p=DYR1A_HUMAN&rb=159&re=479&var=R437L	deleterious(0.02)	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN			YES	DYRK1A,missense_variant,p.Arg428Leu,ENST00000339659,NM_130436.2;DYRK1A,missense_variant,p.Arg437Leu,ENST00000338785,NM_101395.2;DYRK1A,missense_variant,p.Arg437Leu,ENST00000451934,;DYRK1A,missense_variant,p.Arg437Leu,ENST00000321219,;DYRK1A,missense_variant,p.Arg437Leu,ENST00000398960,NM_001396.3,NM_130438.2;DYRK1A,missense_variant,p.Arg209Leu,ENST00000455387,;DYRK1A,missense_variant,p.Arg437Leu,ENST00000398956,;							MODERATE	1310/2292	R437L	DYR1A_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000381932		CCDS42925.1			1	
USP38	0	LGGM	GRCh37	4	144134778	144134778	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	18	11	.	.	ENST00000307017.4:c.1649A>G	p.Lys550Arg	p.K550R	ENST00000307017	NM_032557.5	550	aAg/aGg	0	1	1	UPI0000047AF9	0	getma.org/pdb.php?prot=UBP38_HUMAN&from=442&to=946&var=K550R	ENST00000307017		ENSG00000170185	20067		29	1.63		HGNC	p.K550R		USP38		SNV							ENST00000307017	protein_coding	getma.org/?cm=var&var=hg19,4,144134778,A,G&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF386		K/R		G	low	2155/7009		getma.org/?cm=msa&ty=f&p=UBP38_HUMAN&rb=442&re=946&var=K550R	tolerated(0.2)	B3KSB9_HUMAN			YES	USP38,missense_variant,p.Lys550Arg,ENST00000307017,NM_032557.5;USP38,missense_variant,p.Lys550Arg,ENST00000510377,;USP38,3_prime_UTR_variant,,ENST00000511739,;							MODERATE	1649/3129	K550R	UBP38_HUMAN			Transcript		benign(0.005)	.	ENSP00000303434		CCDS3758.1			1	
PPARGC1A	0	LGGM	GRCh37	4	23815423	23815423	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	29	11	.	.	ENST00000264867.2:c.1683A>G	p.Arg561=	p.R561=	ENST00000264867	NM_013261.3	561	agA/agG	0	1	1	UPI000004D072	0		ENST00000264867		ENSG00000109819	9237		40			HGNC	p.R561R		PPARGC1A		SNV			1				ENST00000264867	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528		R		C		1803/6318				G8DM16_HUMAN			YES	PPARGC1A,synonymous_variant,p.=,ENST00000264867,NM_013261.3;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,downstream_gene_variant,,ENST00000509642,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;PPARGC1A,downstream_gene_variant,,ENST00000513205,;							LOW	1683/2397		PRGC1_HUMAN			Transcript			.	ENSP00000264867		CCDS3429.1			1	
SMARCE1	0	LGGM	GRCh37	17	38793752	38793752	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	18	11	.	.	ENST00000348513.6:c.229A>G	p.Ser77Gly	p.S77G	ENST00000348513	NM_003079.4	77	Agc/Ggc	0	1	1	UPI000006FB55	0	getma.org/pdb.php?prot=SMCE1_HUMAN&from=66&to=134&var=S77G	ENST00000348513		ENSG00000073584	11109		29	2.845		HGNC	p.S61G		SMARCE1		SNV			1				ENST00000478349	protein_coding	getma.org/?cm=var&var=hg19,17,38793752,T,C&fts=all		Superfamily_domains:SSF47095,SMART_domains:SM00398,Gene3D:1.10.30.10,Pfam_domain:PF00505,hmmpanther:PTHR13711:SF150,hmmpanther:PTHR13711,PROSITE_profiles:PS50118		S/G		C	medium	1010/5840		getma.org/?cm=msa&ty=f&p=SMCE1_HUMAN&rb=66&re=134&var=S77G	deleterious(0)	J3QR61_HUMAN,J3QKX6_HUMAN,J3KT85_HUMAN,C0IMW8_HUMAN,B4DGM3_HUMAN			YES	SMARCE1,missense_variant,p.Ser77Gly,ENST00000348513,NM_003079.4;SMARCE1,missense_variant,p.Ser7Gly,ENST00000544009,;SMARCE1,missense_variant,p.Ser59Gly,ENST00000431889,;SMARCE1,missense_variant,p.Ser42Gly,ENST00000377808,;SMARCE1,missense_variant,p.Ser7Gly,ENST00000400122,;SMARCE1,missense_variant,p.Ser42Gly,ENST00000580419,;SMARCE1,missense_variant,p.Ser7Gly,ENST00000578044,;SMARCE1,missense_variant,p.Ser61Gly,ENST00000478349,;SMARCE1,missense_variant,p.Ser77Gly,ENST00000582955,;SMARCE1,missense_variant,p.Ser59Gly,ENST00000580654,;SMARCE1,missense_variant,p.Ser7Gly,ENST00000577721,;SMARCE1,downstream_gene_variant,,ENST00000474246,;SMARCE1,3_prime_UTR_variant,,ENST00000578112,;SMARCE1,3_prime_UTR_variant,,ENST00000481231,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000493660,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000469334,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000578995,;KRT222,intron_variant,,ENST00000476049,;SMARCE1,upstream_gene_variant,,ENST00000583294,;							MODERATE	229/1236	S77G	SMCE1_HUMAN			Transcript		benign(0.418)	.	ENSP00000323967		CCDS11370.1			1	
CD44	0	LGGM	GRCh37	11	35226093	35226093	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	38	12	.	.	ENST00000428726.2:c.1188A>C	p.Thr396=	p.T396=	ENST00000428726	NM_000610.3	396	acA/acC	0	1	1	UPI000013D3FE	0		ENST00000428726		ENSG00000026508	1681		50			HGNC	p.T108T		CD44		SNV			1				ENST00000531110	protein_coding			hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6,Low_complexity_(Seg):seg		T		C		1311/3046				E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN			YES	CD44,synonymous_variant,p.=,ENST00000428726,NM_000610.3;CD44,synonymous_variant,p.=,ENST00000433354,;CD44,synonymous_variant,p.=,ENST00000415148,NM_001001389.1;CD44,synonymous_variant,p.=,ENST00000437706,;CD44,synonymous_variant,p.=,ENST00000531110,;CD44,synonymous_variant,p.=,ENST00000528672,;CD44,synonymous_variant,p.=,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,;							LOW	1188/2229		CD44_HUMAN			Transcript			.	ENSP00000398632		CCDS7897.1			1	
LMBRD2	0	LGGM	GRCh37	5	36116627	36116627	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	28	12	.	.	ENST00000296603.4:c.1371A>C	p.Val457=	p.V457=	ENST00000296603	NM_001007527.1	457	gtA/gtC	0	1	1	UPI00001602FC	0		ENST00000296603		ENSG00000164187	25287		40			HGNC	p.V457V		LMBRD2		SNV							ENST00000296603	protein_coding			Pfam_domain:PF04791,hmmpanther:PTHR21355		V		G		1834/8185				B4DTZ7_HUMAN			YES	LMBRD2,synonymous_variant,p.=,ENST00000296603,NM_001007527.1;LMBRD2,upstream_gene_variant,,ENST00000505524,;							LOW	1371/2088		LMBD2_HUMAN			Transcript			.	ENSP00000296603		CCDS34145.1			1	
FBN2	0	LGGM	GRCh37	5	127710377	127710377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	24	12	.	.	ENST00000508053.1:c.2039T>A	p.Phe680Tyr	p.F680Y	ENST00000508053		680	tTc/tAc	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=658&to=697&var=F680Y	ENST00000262464		ENSG00000138829	3604		36	0.23		HGNC	p.F680Y		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127710377,A,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		F/Y		T	neutral	2478/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=658&re=697&var=F680Y	tolerated(0.18)					FBN2,missense_variant,p.Phe680Tyr,ENST00000508053,;FBN2,missense_variant,p.Phe680Tyr,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Phe647Tyr,ENST00000508989,;Y_RNA,upstream_gene_variant,,ENST00000384560,;FBN2,non_coding_transcript_exon_variant,,ENST00000511489,;							MODERATE	2039/8739	F680Y	FBN2_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000262464		CCDS34222.1			1	
DEFB129	0	LGGM	GRCh37	20	210211	210211	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	27	12	.	.	ENST00000246105.4:c.351C>T	p.Val117=	p.V117=	ENST00000246105	NM_080831.3	117	gtC/gtT	0	1	1	UPI0000042232	0		ENST00000246105		ENSG00000125903	16218		39			HGNC	p.V117V		DEFB129		SNV							ENST00000246105	protein_coding			hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF15		V		T		382/698							YES	DEFB129,synonymous_variant,p.=,ENST00000246105,NM_080831.3;							LOW	351/552		DB129_HUMAN			Transcript			.	ENSP00000246105		CCDS12992.1			1	
RNASE4	0	LGGM	GRCh37	14	21167724	21167724	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	12	.	.	ENST00000555835.1:c.194A>G	p.Tyr65Cys	p.Y65C	ENST00000555835	NM_002937.3	65	tAt/tGt	0	1		UPI000000CBC2	0	getma.org/pdb.php?prot=RNAS4_HUMAN&from=29&to=146&var=Y65C	ENST00000397995		ENSG00000258818	10047		38	0.895		HGNC	p.Y65C		RNASE4		SNV							ENST00000397999	protein_coding	getma.org/?cm=var&var=hg19,14,21167724,A,G&fts=all		hmmpanther:PTHR11437,hmmpanther:PTHR11437:SF10,Gene3D:3.10.130.10,Pfam_domain:PF00074,SMART_domains:SM00092,Superfamily_domains:SSF54076,Prints_domain:PR00794		Y/C		G	low	325/853		getma.org/?cm=msa&ty=f&p=RNAS4_HUMAN&rb=29&re=146&var=Y65C	deleterious(0.04)	Q53XB4_HUMAN				RNASE4,missense_variant,p.Tyr65Cys,ENST00000555835,NM_002937.3;RNASE4,missense_variant,p.Tyr65Cys,ENST00000304704,;RNASE4,missense_variant,p.Tyr65Cys,ENST00000555597,NM_194431.1,NM_001282193.1;RNASE4,missense_variant,p.Tyr65Cys,ENST00000397995,;AL163636.6,3_prime_UTR_variant,,ENST00000553909,NM_001282192.1;RP11-903H12.3,intron_variant,,ENST00000554286,;ANG,downstream_gene_variant,,ENST00000554073,;							MODERATE	194/444	Y65C	RNAS4_HUMAN			Transcript		benign(0.233)	.	ENSP00000381081		CCDS9555.1			1	
BIRC5	0	LGGM	GRCh37	17	76212852	76212852	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	21	12	.	.	ENST00000301633.4:c.398A>G	p.Lys133Arg	p.K133R	ENST00000301633	NM_001012271.1	133	aAg/aGg	0	1		UPI000013E736	0	getma.org/pdb.php?prot=BIRC5_HUMAN&from=89&to=142&var=K110R	ENST00000350051		ENSG00000089685	593		33	2.215		HGNC	p.K110R		BIRC5		SNV							ENST00000590925	protein_coding	getma.org/?cm=var&var=hg19,17,76212852,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57924,Gene3D:1.10.1170.10,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF88		K/R		G	medium	448/2630		getma.org/?cm=msa&ty=f&p=BIRC5_HUMAN&rb=89&re=142&var=K110R	tolerated(0.41)					BIRC5,missense_variant,p.Lys133Arg,ENST00000301633,NM_001012271.1;BIRC5,missense_variant,p.Lys110Arg,ENST00000350051,NM_001168.2;BIRC5,missense_variant,p.Lys111Arg,ENST00000587746,;AC087645.1,synonymous_variant,p.=,ENST00000600484,;BIRC5,intron_variant,,ENST00000374948,NM_001012270.1;BIRC5,intron_variant,,ENST00000592734,;BIRC5,downstream_gene_variant,,ENST00000590449,;BIRC5,non_coding_transcript_exon_variant,,ENST00000589892,;BIRC5,missense_variant,p.Lys110Arg,ENST00000590925,;BIRC5,3_prime_UTR_variant,,ENST00000586192,;BIRC5,3_prime_UTR_variant,,ENST00000591800,;BIRC5,non_coding_transcript_exon_variant,,ENST00000592115,;RP11-219G17.6,upstream_gene_variant,,ENST00000588528,;							MODERATE	329/429	K110R				Transcript		benign(0.065)	.	ENSP00000324180		CCDS11755.1			1	
OR4D1	0	LGGM	GRCh37	17	56233143	56233143	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	14	12	.	.	ENST00000268912.5:c.629G>A	p.Trp210Ter	p.W210*	ENST00000268912	NM_012374.1	210	tGg/tAg	0	1	1	UPI0000041E8C	0	NA	ENST00000268912		ENSG00000141194	8293		26	0		HGNC	p.W210X		OR4D1		SNV							ENST00000268912	protein_coding	getma.org/?cm=var&var=hg19,17,56233143,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF315,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		W/*		A	NA	650/1024		NA					YES	OR4D1,stop_gained,p.Trp210Ter,ENST00000268912,NM_012374.1;MSX2P1,upstream_gene_variant,,ENST00000584100,;MSX2P1,upstream_gene_variant,,ENST00000432896,;							HIGH	629/933	W210*	OR4D1_HUMAN			Transcript			.	ENSP00000365451		CCDS42365.1			1	
MYH13	0	LGGM	GRCh37	17	10215943	10215943	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	13	12	.	.	ENST00000418404.3:c.4313G>A	p.Arg1438His	p.R1438H	ENST00000418404		1438	cGc/cAc	0	1		UPI0000DB39EA	0	NA	ENST00000252172		ENSG00000006788	7571		25	3.055		HGNC	p.R1438H	rs546103209	MYH13	0.000956	SNV							ENST00000418404	protein_coding	getma.org/?cm=var&var=hg19,17,10215943,C,T&fts=all	T:0	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257		R/H		T	medium	4403/5992	1.62E-05	getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=R1438H	deleterious(0.01)		T:0	T:0		MYH13,missense_variant,p.Arg1438His,ENST00000418404,;MYH13,missense_variant,p.Arg1438His,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;	0.000124	T:0.0002					MODERATE	4313/5817	R1438H	MYH13_HUMAN		T:0	Transcript		possibly_damaging(0.692)	common_variant	ENSP00000252172	0.000132	CCDS45613.1		T:0.001	1	
CH25H	0	LGGM	GRCh37	10	90966512	90966512	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	21	13	.	.	ENST00000371852.2:c.538T>C	p.Phe180Leu	p.F180L	ENST00000371852	NM_003956.3	180	Ttt/Ctt	0	1	1	UPI0000073DCF	0	NA	ENST00000371852		ENSG00000138135	1907		34	-0.865		HGNC	p.F180L		CH25H		SNV							ENST00000371852	protein_coding	getma.org/?cm=var&var=hg19,10,90966512,A,G&fts=all		hmmpanther:PTHR11863,hmmpanther:PTHR11863:SF5,Pfam_domain:PF04116		F/L		G	neutral	560/1378		getma.org/?cm=msa&ty=f&p=CH25H_HUMAN&rb=128&re=244&var=F180L	tolerated(1)				YES	CH25H,missense_variant,p.Phe180Leu,ENST00000371852,NM_003956.3;							MODERATE	538/819	F180L	CH25H_HUMAN			Transcript		benign(0.007)	.	ENSP00000360918		CCDS7400.1			1	
COLEC10	0	LGGM	GRCh37	8	120118107	120118107	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	40	13	.	.	ENST00000332843.2:c.511G>T	p.Glu171Ter	p.E171*	ENST00000332843	NM_006438.3	171	Gaa/Taa	0	1	1	UPI00001B01DD	0	NA	ENST00000332843		ENSG00000184374	2220		53	0		HGNC	p.E171X		COLEC10		SNV							ENST00000332843	protein_coding	getma.org/?cm=var&var=hg19,8,120118107,G,T&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF17,SMART_domains:SM00034,Superfamily_domains:SSF56436		E/*		T	NA	552/1266		NA					YES	COLEC10,stop_gained,p.Glu171Ter,ENST00000332843,NM_006438.3;COLEC10,downstream_gene_variant,,ENST00000521788,;							HIGH	511/834	E171*	COL10_HUMAN			Transcript			.	ENSP00000332723		CCDS6327.1			1	
KAT2B	0	LGGM	GRCh37	3	20167404	20167404	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	22	13	.	.	ENST00000263754.4:c.1421T>A	p.Phe474Tyr	p.F474Y	ENST00000263754	NM_003884.4	474	tTt/tAt	0	1	1	UPI00002132DE	0	NA	ENST00000263754		ENSG00000114166	8638		35	1.39		HGNC	p.F474Y		KAT2B		SNV							ENST00000263754	protein_coding	getma.org/?cm=var&var=hg19,3,20167404,T,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,PIRSF_domain:PIRSF003048		F/Y		A	low	1876/4833		getma.org/?cm=msa&ty=f&p=KAT2B_HUMAN&rb=328&re=527&var=F474Y	tolerated(0.14)				YES	KAT2B,missense_variant,p.Phe474Tyr,ENST00000263754,NM_003884.4;KAT2B,downstream_gene_variant,,ENST00000469085,;KAT2B,upstream_gene_variant,,ENST00000468111,;							MODERATE	1421/2499	F474Y	KAT2B_HUMAN			Transcript		benign(0.122)	.	ENSP00000263754		CCDS2634.1			1	
NPY2R	0	LGGM	GRCh37	4	156135600	156135600	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	22	13	.	.	ENST00000329476.3:c.509G>T	p.Gly170Val	p.G170V	ENST00000329476	NM_000910.2	170	gGc/gTc	0	1	1	UPI000003B342	0	getma.org/pdb.php?prot=NPY2R_HUMAN&from=67&to=325&var=G170V	ENST00000329476		ENSG00000185149	7957		35	0.145		HGNC	p.G170V		NPY2R		SNV							ENST00000506608	protein_coding	getma.org/?cm=var&var=hg19,4,156135600,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF42,hmmpanther:PTHR24242,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/V		T	neutral	998/3626		getma.org/?cm=msa&ty=f&p=NPY2R_HUMAN&rb=67&re=325&var=G170V	tolerated(0.67)				YES	NPY2R,missense_variant,p.Gly170Val,ENST00000329476,NM_000910.2;NPY2R,missense_variant,p.Gly170Val,ENST00000506608,;							MODERATE	509/1146	G170V	NPY2R_HUMAN			Transcript		benign(0.012)	.	ENSP00000332591		CCDS3791.1			1	
GRB2	0	LGGM	GRCh37	17	73328852	73328852	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	20	13	.	.	ENST00000392562.1:c.105C>G	p.Asn35Lys	p.N35K	ENST00000392562		35	aaC/aaG	0	1		UPI000004EF93	0	getma.org/pdb.php?prot=GRB2_HUMAN&from=4&to=50&var=N35K	ENST00000316804		ENSG00000177885	4566		33	2.19		HGNC	p.N35K		GRB2		SNV							ENST00000578961	protein_coding	getma.org/?cm=var&var=hg19,17,73328852,G,C&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF00018,PROSITE_profiles:PS50002,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF27,SMART_domains:SM00326,Superfamily_domains:SSF50044		N/K		C	medium	407/3248		getma.org/?cm=msa&ty=f&p=GRB2_HUMAN&rb=4&re=50&var=N35K	deleterious(0.01)	J3KT38_HUMAN,B0LPF3_HUMAN				GRB2,missense_variant,p.Asn35Lys,ENST00000392562,;GRB2,missense_variant,p.Asn35Lys,ENST00000316804,NM_002086.4;GRB2,missense_variant,p.Asn35Lys,ENST00000392564,;GRB2,missense_variant,p.Asn35Lys,ENST00000316615,NM_203506.2;GRB2,missense_variant,p.Asn35Lys,ENST00000392563,;GRB2,missense_variant,p.Asn35Lys,ENST00000578961,;GRB2,missense_variant,p.Asn35Lys,ENST00000582582,;							MODERATE	105/654	N35K	GRB2_HUMAN			Transcript		benign(0.425)	.	ENSP00000339007		CCDS11721.1			1	
KRT72	0	LGGM	GRCh37	12	52985291	52985291	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	12	13	.	.	ENST00000293745.2:c.920C>T	p.Ala307Val	p.A307V	ENST00000293745	NM_080747.2	307	gCc/gTc	0	1	1	UPI0000055AC8	0	getma.org/pdb.php?prot=K2C72_HUMAN&from=124&to=437&var=A307V	ENST00000293745		ENSG00000170486	28932		25	3.36		HGNC	p.A307V	rs777247704	KRT72		SNV				0.000192			ENST00000293745	protein_coding	getma.org/?cm=var&var=hg19,12,52985291,G,A&fts=all		hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239,Pfam_domain:PF00038		A/V		A	medium	1006/2015		getma.org/?cm=msa&ty=f&p=K2C72_HUMAN&rb=124&re=437&var=A307V	deleterious(0)	B4DXK4_HUMAN			YES	KRT72,missense_variant,p.Ala307Val,ENST00000293745,NM_080747.2;KRT72,missense_variant,p.Ala307Val,ENST00000537672,NM_001146225.1;KRT72,missense_variant,p.Ala307Val,ENST00000354310,NM_001146226.1;KRT72,missense_variant,p.Ala119Val,ENST00000398066,;KRT72,3_prime_UTR_variant,,ENST00000550829,;							MODERATE	920/1536	A307V	K2C72_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000293745	1.65E-05	CCDS8833.1			1	
NFATC1	0	LGGM	GRCh37	18	77287571	77287571	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	25	13	.	.	ENST00000329101.4:c.2787C>G	p.His929Gln	p.H929Q	ENST00000329101	NM_172387.2	929	caC/caG	0	1		UPI000012FFB5	0	NA	ENST00000427363		ENSG00000131196	7775		38	0.805		HGNC	p.H929Q		NFATC1		SNV							ENST00000329101	protein_coding	getma.org/?cm=var&var=hg19,18,77287571,C,G&fts=all		hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533		H/Q		G	low	2826/2832		getma.org/?cm=msa&ty=f&p=NFAC1_HUMAN&rb=894&re=943&var=H942Q	tolerated(0.16)	F5H4S8_HUMAN				NFATC1,missense_variant,p.His929Gln,ENST00000329101,NM_172387.2;NFATC1,missense_variant,p.His942Gln,ENST00000427363,;NFATC1,missense_variant,p.His712Gln,ENST00000542384,;NFATC1,missense_variant,p.His699Gln,ENST00000586434,;NFATC1,missense_variant,p.His470Gln,ENST00000545796,NM_001278673.1;NFATC1,3_prime_UTR_variant,,ENST00000253506,NM_006162.4,NM_001278670.1,NM_001278669.1;NFATC1,3_prime_UTR_variant,,ENST00000318065,NM_001278672.1,NM_172389.2;NFATC1,3_prime_UTR_variant,,ENST00000397790,NM_172388.2;NFATC1,non_coding_transcript_exon_variant,,ENST00000590172,;NFATC1,non_coding_transcript_exon_variant,,ENST00000586695,;NFATC1,non_coding_transcript_exon_variant,,ENST00000590861,;NFATC1,3_prime_UTR_variant,,ENST00000590313,;							MODERATE	2826/2832	H942Q	NFAC1_HUMAN			Transcript		benign(0.312)	.	ENSP00000389377		CCDS62467.1			1	
AP5M1	0	LGGM	GRCh37	14	57747119	57747119	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	33	13	.	.	ENST00000261558.3:c.927C>G	p.Asn309Lys	p.N309K	ENST00000261558	NM_018229.3	309	aaC/aaG	0	1	1	UPI00000719DE	0	getma.org/pdb.php?prot=AP5M1_HUMAN&from=203&to=477&var=N309K	ENST00000261558		ENSG00000053770	20192		46	0.55		HGNC	p.N309K		AP5M1		SNV							ENST00000261558	protein_coding	getma.org/?cm=var&var=hg19,14,57747119,C,G&fts=all		Superfamily_domains:0038852,Gene3D:2.60.40.1170,Pfam_domain:PF00928,PROSITE_profiles:PS51072,hmmpanther:PTHR16082,hmmpanther:PTHR16082:SF2		N/K		G	neutral	1333/3074		getma.org/?cm=msa&ty=f&p=AP5M1_HUMAN&rb=203&re=477&var=N309K	tolerated(0.96)	H0YIY0_HUMAN,G3V573_HUMAN			YES	AP5M1,missense_variant,p.Asn309Lys,ENST00000261558,NM_018229.3;AP5M1,missense_variant,p.Asn323Lys,ENST00000431972,;AP5M1,upstream_gene_variant,,ENST00000554863,;AP5M1,non_coding_transcript_exon_variant,,ENST00000556723,;AP5M1,3_prime_UTR_variant,,ENST00000555448,;AP5M1,downstream_gene_variant,,ENST00000554931,;							MODERATE	927/1473	N309K	AP5M1_HUMAN			Transcript		benign(0.014)	.	ENSP00000261558		CCDS9729.1			1	
ZNF397	0	LGGM	GRCh37	18	32825904	32825904	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	27	13	.	.	ENST00000330501.7:c.1235T>G	p.Leu412Arg	p.L412R	ENST00000330501	NM_001135178.2	412	cTc/cGc	0	1	1	UPI000000D7E4	0	getma.org/pdb.php?prot=ZN397_HUMAN&from=411&to=436&var=L412R	ENST00000330501		ENSG00000186812	18818		40	3.105		HGNC	p.L412R		ZNF397		SNV							ENST00000330501	protein_coding	getma.org/?cm=var&var=hg19,18,32825904,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/R		G	medium	1388/2637		getma.org/?cm=msa&ty=f&p=ZN397_HUMAN&rb=391&re=456&var=L412R	deleterious(0)	M0R288_HUMAN			YES	ZNF397,missense_variant,p.Leu412Arg,ENST00000330501,NM_001135178.2;ZNF397,intron_variant,,ENST00000355632,;ZNF397,intron_variant,,ENST00000261333,NM_032347.2;ZNF397,intron_variant,,ENST00000592264,;ZNF397,downstream_gene_variant,,ENST00000585800,;ZNF397,downstream_gene_variant,,ENST00000591206,;ZNF397,downstream_gene_variant,,ENST00000588119,;ZNF397,downstream_gene_variant,,ENST00000601719,;ZNF397,intron_variant,,ENST00000589420,;ZNF397,downstream_gene_variant,,ENST00000590470,;ZNF397,downstream_gene_variant,,ENST00000589630,;							MODERATE	1235/1605	L412R	ZN397_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000331577		CCDS45852.1			1	
ANKAR	0	LGGM	GRCh37	2	190541664	190541664	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	13	.	.	ENST00000520309.1:c.448A>G	p.Ile150Val	p.I150V	ENST00000520309	NM_144708.3	150	Att/Gtt	0	1		UPI00001D7E11	0	NA	ENST00000313581		ENSG00000151687	26350		30	-0.11		HGNC	p.I79V		ANKAR		SNV							ENST00000431575	protein_coding	getma.org/?cm=var&var=hg19,2,190541664,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62		I/V		G	neutral	512/4391		getma.org/?cm=msa&ty=f&p=ANKAR_HUMAN&rb=1&re=479&var=I150V	tolerated(1)	J3KQB7_HUMAN				ANKAR,missense_variant,p.Ile150Val,ENST00000520309,NM_144708.3;ANKAR,missense_variant,p.Ile150Val,ENST00000313581,;ANKAR,missense_variant,p.Ile79Val,ENST00000431575,;ANKAR,missense_variant,p.Ile150Val,ENST00000438402,;ANKAR,5_prime_UTR_variant,,ENST00000281412,;ANKAR,intron_variant,,ENST00000461516,;ANKAR,missense_variant,p.Ile79Val,ENST00000433782,;ANKAR,non_coding_transcript_exon_variant,,ENST00000467927,;ANKAR,intron_variant,,ENST00000441800,;							MODERATE	448/4305	I150V	ANKAR_HUMAN			Transcript		benign(0.001)	.	ENSP00000313513		CCDS33351.2			1	
TRNT1	0	LGGM	GRCh37	3	3188238	3188238	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	20	14	.	.	ENST00000251607.6:c.733A>C	p.Ile245Leu	p.I245L	ENST00000251607	NM_182916.2	245	Att/Ctt	0	1	1	UPI000013CD08	0	getma.org/pdb.php?prot=TRNT1_HUMAN&from=215&to=271&var=I245L	ENST00000251607		ENSG00000072756	17341		34	1.155		HGNC	p.I245L		TRNT1		SNV			1				ENST00000251607	protein_coding	getma.org/?cm=var&var=hg19,3,3188238,A,C&fts=all		Superfamily_domains:SSF81891,hmmpanther:PTHR13734,Pfam_domain:PF12627,Gene3D:1.10.3090.10,hmmpanther:PTHR13734:SF5		I/L		C	low	835/2276		getma.org/?cm=msa&ty=f&p=TRNT1_HUMAN&rb=215&re=271&var=I245L	deleterious(0.05)	C9JRS7_HUMAN			YES	TRNT1,missense_variant,p.Ile245Leu,ENST00000251607,NM_182916.2;TRNT1,missense_variant,p.Ile245Leu,ENST00000280591,;CRBN,downstream_gene_variant,,ENST00000231948,NM_016302.3;CRBN,downstream_gene_variant,,ENST00000432408,NM_001173482.1;CRBN,downstream_gene_variant,,ENST00000424814,;TRNT1,missense_variant,p.Ile245Leu,ENST00000434583,;CRBN,downstream_gene_variant,,ENST00000491834,;CRBN,downstream_gene_variant,,ENST00000488263,;CRBN,downstream_gene_variant,,ENST00000459840,;CRBN,downstream_gene_variant,,ENST00000498442,;							MODERATE	733/1305	I245L	TRNT1_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000251607		CCDS2561.2			1	
EIF2A	0	LGGM	GRCh37	3	150301653	150301653	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	40	14	.	.	ENST00000460851.1:c.1713A>C	p.Glu571Asp	p.E571D	ENST00000460851		571	gaA/gaC	0	1	1	UPI00000473DB	0	NA	ENST00000460851		ENSG00000144895	3254		54	3.145		HGNC	p.E571D		EIF2A		SNV							ENST00000460851	protein_coding	getma.org/?cm=var&var=hg19,3,150301653,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13227,PIRSF_domain:PIRSF017222		E/D		C	medium	1822/2198		getma.org/?cm=msa&ty=f&p=EIF2A_HUMAN&rb=412&re=585&var=E571D	deleterious(0.01)				YES	EIF2A,missense_variant,p.Glu571Asp,ENST00000460851,;EIF2A,missense_variant,p.Glu566Asp,ENST00000273435,NM_032025.3;EIF2A,missense_variant,p.Glu546Asp,ENST00000487799,;EIF2A,missense_variant,p.Glu510Asp,ENST00000406576,;EIF2A,missense_variant,p.Glu357Asp,ENST00000383043,;EIF2A,missense_variant,p.Glu302Asp,ENST00000465535,;SERP1,intron_variant,,ENST00000479209,;EIF2A,non_coding_transcript_exon_variant,,ENST00000482471,;SERP1,intron_variant,,ENST00000490945,;SERP1,intron_variant,,ENST00000491195,;SERP1,intron_variant,,ENST00000484608,;SERP1,upstream_gene_variant,,ENST00000463647,;EIF2A,3_prime_UTR_variant,,ENST00000477551,;							MODERATE	1713/1758	E571D	EIF2A_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000417229		CCDS46935.1			1	
KMT2A	0	LGGM	GRCh37	11	118344807	118344807	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	10	14	.	.	ENST00000534358.1:c.2933C>G	p.Pro978Arg	p.P978R	ENST00000534358	NM_005933.3	978	cCa/cGa	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		24	0.695		HGNC	p.P978R		KMT2A		SNV			1				ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118344807,C,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		P/R		G	neutral	2933/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1&re=1008&var=P978R		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Pro978Arg,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Pro978Arg,ENST00000354520,;KMT2A,missense_variant,p.Pro978Arg,ENST00000389506,;KMT2A,missense_variant,p.Pro1011Arg,ENST00000531904,;KMT2A,intron_variant,,ENST00000533790,;KMT2A,intron_variant,,ENST00000527869,;							MODERATE	2933/11910	P978R	KMT2A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000374157		CCDS31686.1			1	
LRRIQ1	0	LGGM	GRCh37	12	85626473	85626473	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	25	15	.	.	ENST00000393217.2:c.4956-1G>A		p.X1652_splice	ENST00000393217	NM_001079910.1			0	1	1	UPI0000ED4E82	0		ENST00000393217		ENSG00000133640	25708		40			HGNC	-		LRRIQ1		SNV							ENST00000393217	protein_coding							A		-/5394				A8MY60_HUMAN			YES	LRRIQ1,splice_acceptor_variant,,ENST00000393217,NM_001079910.1;LRRIQ1,splice_acceptor_variant,,ENST00000526363,;LRRIQ1,splice_acceptor_variant,,ENST00000528777,;							HIGH	4956/5169		LRIQ1_HUMAN			Transcript			.	ENSP00000376910		CCDS41816.1			1	
DENND4B	0	LGGM	GRCh37	1	153905757	153905757	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	22	15	.	.	ENST00000361217.4:c.3369A>G	p.Glu1123=	p.E1123=	ENST00000361217	NM_014856.2	1123	gaA/gaG	0	1	1	UPI000047EA3E	0		ENST00000361217		ENSG00000198837	29044		37			HGNC	p.E1134E	COSM3705017,COSM3705016	DENND4B		SNV						1,1	ENST00000368646	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF18		E		C		3788/5706							YES	DENND4B,synonymous_variant,p.=,ENST00000361217,NM_014856.2;DENND4B,synonymous_variant,p.=,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000474386,;DENND4B,upstream_gene_variant,,ENST00000480340,;DENND4B,upstream_gene_variant,,ENST00000492898,;DENND4B,upstream_gene_variant,,ENST00000462423,;DENND4B,upstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;					1,1		LOW	3369/4491		DEN4B_HUMAN			Transcript			.	ENSP00000354597		CCDS44228.1			1	
RRBP1	0	LGGM	GRCh37	20	17595484	17595484	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	34	15	.	.	ENST00000377807.2:c.2793G>T	p.Gly931=	p.G931=	ENST00000377807	NM_001042576.1	931	ggG/ggT	0	1	1	UPI000002B2C0	0		ENST00000377807		ENSG00000125844	10448		49			HGNC	p.G931G		RRBP1		SNV							ENST00000377807	protein_coding			hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939		G		A		3147/3792				F8W7S5_HUMAN			YES	RRBP1,synonymous_variant,p.=,ENST00000377813,;RRBP1,synonymous_variant,p.=,ENST00000246043,;RRBP1,synonymous_variant,p.=,ENST00000377807,NM_001042576.1;RRBP1,synonymous_variant,p.=,ENST00000360807,NM_004587.2;RRBP1,synonymous_variant,p.=,ENST00000455029,;DSTN,downstream_gene_variant,,ENST00000246069,NM_006870.3;RRBP1,non_coding_transcript_exon_variant,,ENST00000470422,;RRBP1,non_coding_transcript_exon_variant,,ENST00000468428,;							LOW	2793/2934		RRBP1_HUMAN			Transcript			.	ENSP00000367038		CCDS13128.1			1	
REST	0	LGGM	GRCh37	4	57796037	57796037	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	31	15	.	.	ENST00000309042.7:c.1013G>C	p.Ser338Thr	p.S338T	ENST00000309042	NM_005612.4	338	aGt/aCt	0	1	1	UPI000013FBF6	0	getma.org/pdb.php?prot=REST_HUMAN&from=318&to=343&var=S338T	ENST00000309042		ENSG00000084093	9966		46	1.635		HGNC	p.S338T		REST		SNV							ENST00000309042	protein_coding	getma.org/?cm=var&var=hg19,4,57796037,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF71,hmmpanther:PTHR10032,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		S/T		C	low	1327/7300		getma.org/?cm=msa&ty=f&p=REST_HUMAN&rb=298&re=363&var=S338T	tolerated(0.05)				YES	REST,missense_variant,p.Ser338Thr,ENST00000309042,NM_005612.4,NM_001193508.1;REST,non_coding_transcript_exon_variant,,ENST00000514063,;							MODERATE	1013/3294	S338T	REST_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000311816		CCDS3509.1			1	
C15orf52	0	LGGM	GRCh37	15	40631763	40631763	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	23	15	.	.	ENST00000559313.1:c.313G>A	p.Ala105Thr	p.A105T	ENST00000559313	NM_207380.2	105	Gca/Aca	0	1	1	UPI00001C0AEA	0	NA	ENST00000559313		ENSG00000188549	33488	8.65E-05	38	0		HGNC	p.A105T	rs370567190	C15orf52		SNV	G:0						ENST00000559313	protein_coding	getma.org/?cm=var&var=hg19,15,40631763,C,T&fts=all		hmmpanther:PTHR15635,hmmpanther:PTHR15635:SF10		A/T	G:0.0001	T	neutral	329/3022		getma.org/?cm=msa&ty=f&p=CO052_HUMAN&rb=61&re=367&var=A105T	tolerated(0.19)	H0YM82_HUMAN,H0YK65_HUMAN			YES	C15orf52,missense_variant,p.Ala105Thr,ENST00000559313,NM_207380.2;C15orf52,missense_variant,p.Ala49Thr,ENST00000560922,;C15orf52,upstream_gene_variant,,ENST00000397536,;C15orf52,upstream_gene_variant,,ENST00000558858,;C15orf52,downstream_gene_variant,,ENST00000557973,;C15orf52,non_coding_transcript_exon_variant,,ENST00000558912,;C15orf52,upstream_gene_variant,,ENST00000382688,;							MODERATE	313/1605	A105T	CO052_HUMAN			Transcript		benign(0.137)	.	ENSP00000453969	8.26E-06	CCDS10055.2			1	
NACC1	0	LGGM	GRCh37	19	13248963	13248963	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	16	15	.	.	ENST00000292431.4:c.1327T>G	p.Tyr443Asp	p.Y443D	ENST00000292431	NM_052876.3	443	Tac/Gac	0	1	1	UPI000006FA7F	0	NA	ENST00000292431		ENSG00000160877	20967		31	0.55		HGNC	p.Y443D		NACC1		SNV							ENST00000292431	protein_coding	getma.org/?cm=var&var=hg19,19,13248963,T,G&fts=all		PROSITE_profiles:PS51457,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF56,Pfam_domain:PF10523,SMART_domains:SM01025		Y/D		G	neutral	1453/4445		getma.org/?cm=msa&ty=f&p=NACC1_HUMAN&rb=396&re=471&var=Y443D	deleterious(0.01)	K7ENW4_HUMAN			YES	NACC1,missense_variant,p.Tyr443Asp,ENST00000292431,NM_052876.3;NACC1,intron_variant,,ENST00000585663,;NACC1,downstream_gene_variant,,ENST00000586171,;CTC-250I14.3,downstream_gene_variant,,ENST00000591825,;							MODERATE	1327/1584	Y443D	NACC1_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000292431		CCDS12294.1			1	
ZFP2	0	LGGM	GRCh37	5	178358396	178358396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	25	15	.	.	ENST00000361362.2:c.82C>A	p.His28Asn	p.H28N	ENST00000361362	NM_030613.2	28	Cat/Aat	0	1	1	UPI000035E795	0	NA	ENST00000361362		ENSG00000198939	26138		40	0.895		HGNC	p.H28N		ZFP2		SNV							ENST00000520301	protein_coding	getma.org/?cm=var&var=hg19,5,178358396,C,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF183		H/N		A	low	612/2429		getma.org/?cm=msa&ty=f&p=ZFP2_HUMAN&rb=1&re=115&var=H28N	tolerated(0.14)	E5RJD3_HUMAN			YES	ZFP2,missense_variant,p.His28Asn,ENST00000361362,NM_030613.2;ZFP2,missense_variant,p.His28Asn,ENST00000523286,;ZFP2,missense_variant,p.His28Asn,ENST00000503510,;ZFP2,missense_variant,p.His28Asn,ENST00000520301,;ZFP2,downstream_gene_variant,,ENST00000520660,;ZFP2,downstream_gene_variant,,ENST00000520805,;							MODERATE	82/1386	H28N	ZFP2_HUMAN			Transcript		benign(0)	.	ENSP00000354453		CCDS4440.1			1	
ZNF804A	0	LGGM	GRCh37	2	185802325	185802325	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	15	.	.	ENST00000302277.6:c.2202G>C	p.Gln734His	p.Q734H	ENST00000302277	NM_194250.1	734	caG/caC	0	1	1	UPI00001B4B18	0	NA	ENST00000302277		ENSG00000170396	21711		41	-0.55		HGNC	p.Q734H		ZNF804A		SNV							ENST00000302277	protein_coding	getma.org/?cm=var&var=hg19,2,185802325,G,C&fts=all		hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614		Q/H		C	neutral	2796/4690		getma.org/?cm=msa&ty=f&p=Z804A_HUMAN&rb=487&re=820&var=Q734H	tolerated(0.16)				YES	ZNF804A,missense_variant,p.Gln734His,ENST00000302277,NM_194250.1;							MODERATE	2202/3630	Q734H	Z804A_HUMAN			Transcript		benign(0)	.	ENSP00000303252		CCDS2291.1			1	
C10ORF68	0	LGGM	GRCh37	10	33137535	33137535	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	34	16	.	.	ENST00000302316.6:c.1513T>A	p.Phe505Ile	p.F505I	ENST00000302316	NM_024688.2	505	Ttt/Att	0	1		UPI0000D60F36	0	NA	ENST00000375025		ENSG00000150076			50	1.59		Uniprot_gn	p.F505I		C10ORF68		SNV							ENST00000302316	protein_coding	getma.org/?cm=var&var=hg19,10,33137535,T,A&fts=all				F/I		A	low	1705/2079		getma.org/?cm=msa&ty=f&p=CJ068_HUMAN&rb=1&re=626&var=F505I	tolerated(0.11)					C10ORF68,missense_variant,p.Phe464Ile,ENST00000375030,;C10ORF68,missense_variant,p.Phe509Ile,ENST00000375028,;C10ORF68,missense_variant,p.Phe569Ile,ENST00000375025,;C10ORF68,missense_variant,p.Phe505Ile,ENST00000302316,NM_024688.2;							MODERATE	1705/2079	F505I	CJ068_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000364165					1	
PPFIBP1	0	LGGM	GRCh37	12	27829430	27829430	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	24	16	.	.	ENST00000318304.8:c.1531A>G	p.Met511Val	p.M511V	ENST00000318304	NM_177444.2	511	Atg/Gtg	0	1	1	UPI00004565E6	0	NA	ENST00000318304		ENSG00000110841	9249		40	-1.15		HGNC	p.M342V		PPFIBP1		SNV							ENST00000540114	protein_coding	getma.org/?cm=var&var=hg19,12,27829430,A,G&fts=all		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16		M/V		G	neutral	1814/6001		getma.org/?cm=msa&ty=f&p=LIPB1_HUMAN&rb=291&re=569&var=M511V	tolerated(0.54)	F5H6Q7_HUMAN			YES	PPFIBP1,missense_variant,p.Met511Val,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,missense_variant,p.Met494Val,ENST00000228425,NM_003622.3;PPFIBP1,missense_variant,p.Met358Val,ENST00000537927,NM_001198915.1;PPFIBP1,missense_variant,p.Met480Val,ENST00000542629,;PPFIBP1,missense_variant,p.Met342Val,ENST00000540114,;PPFIBP1,missense_variant,p.Met186Val,ENST00000537261,;PPFIBP1,upstream_gene_variant,,ENST00000540503,;							MODERATE	1531/3036	M511V	LIPB1_HUMAN			Transcript		benign(0)	.	ENSP00000314724		CCDS55812.1			1	
ANKRD40	0	LGGM	GRCh37	17	48773370	48773370	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	23	16	.	.	ENST00000285243.6:c.1095A>C	p.Lys365Asn	p.K365N	ENST00000285243	NM_052855.3	365	aaA/aaC	0	1	1	UPI000006F76F	0	NA	ENST00000285243		ENSG00000154945	28233		39	1.24		HGNC	p.K365N		ANKRD40		SNV							ENST00000285243	protein_coding	getma.org/?cm=var&var=hg19,17,48773370,T,G&fts=all		hmmpanther:PTHR24192,hmmpanther:PTHR24192:SF1		K/N		G	low	1365/4184		getma.org/?cm=msa&ty=f&p=ANR40_HUMAN&rb=187&re=366&var=K365N	tolerated(0.08)	K7ERW4_HUMAN,A8IK34_HUMAN			YES	ANKRD40,missense_variant,p.Lys365Asn,ENST00000285243,NM_052855.3;ABCC3,downstream_gene_variant,,ENST00000285238,NM_003786.3;ANKRD40,downstream_gene_variant,,ENST00000513072,;RP11-294J22.6,downstream_gene_variant,,ENST00000574246,;Y_RNA,upstream_gene_variant,,ENST00000364470,;ABCC3,downstream_gene_variant,,ENST00000502426,;ABCC3,downstream_gene_variant,,ENST00000505699,;ABCC3,downstream_gene_variant,,ENST00000503337,;ABCC3,downstream_gene_variant,,ENST00000508929,;ANKRD40,downstream_gene_variant,,ENST00000507114,;							MODERATE	1095/1107	K365N	ANR40_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000285243		CCDS11572.1			1	
STX2	0	LGGM	GRCh37	12	131283098	131283098	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	39	16	.	.	ENST00000392373.2:c.758C>T	p.Ala253Val	p.A253V	ENST00000392373	NM_194356.2	253	gCt/gTt	0	1	1	UPI00001D69FD	0	getma.org/pdb.php?prot=STX2_HUMAN&from=196&to=258&var=A253V	ENST00000392373		ENSG00000111450	3403		55	3.835		HGNC	p.A253V		STX2		SNV							ENST00000392373	protein_coding	getma.org/?cm=var&var=hg19,12,131283098,G,A&fts=all		PROSITE_profiles:PS50192,hmmpanther:PTHR19957:SF36,hmmpanther:PTHR19957,Pfam_domain:PF05739,Gene3D:1.20.5.110,SMART_domains:SM00397		A/V		A	high	853/2151		getma.org/?cm=msa&ty=f&p=STX2_HUMAN&rb=196&re=258&var=A253V	deleterious(0)				YES	STX2,missense_variant,p.Ala253Val,ENST00000261653,NM_001980.3;STX2,missense_variant,p.Ala253Val,ENST00000392373,NM_194356.2;STX2,non_coding_transcript_exon_variant,,ENST00000540889,;STX2,downstream_gene_variant,,ENST00000344271,;							MODERATE	758/867	A253V	STX2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376178		CCDS9270.1			1	
LTF	0	LGGM	GRCh37	3	46488872	46488872	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	44	16	.	.	ENST00000231751.4:c.1230C>A	p.Ala410=	p.A410=	ENST00000231751	NM_002343.3	410	gcC/gcA	0	1	1	UPI000016ABE3	0		ENST00000231751		ENSG00000012223	6720		60			HGNC	p.A397A		LTF		SNV			1				ENST00000443496	protein_coding			PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF21,hmmpanther:PTHR11485,Gene3D:3.40.190.10,Pfam_domain:PF00405,SMART_domains:SM00094,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500683,Superfamily_domains:SSF53850		A		T		1526/2979				C9J0S5_HUMAN,A8K9U8_HUMAN			YES	LTF,synonymous_variant,p.=,ENST00000231751,NM_002343.3;LTF,synonymous_variant,p.=,ENST00000443496,;LTF,synonymous_variant,p.=,ENST00000426532,NM_001199149.1;LTF,synonymous_variant,p.=,ENST00000417439,;LTF,intron_variant,,ENST00000478874,;							LOW	1230/2133		TRFL_HUMAN			Transcript			.	ENSP00000231751		CCDS33747.1			1	
MFSD2B	0	LGGM	GRCh37	2	24239121	24239121	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	17	16	.	.	ENST00000406420.3:c.318G>A	p.Gln106=	p.Q106=	ENST00000406420	NM_001080473.1	106	caG/caA	0	1	1	UPI0000DD79F8	0		ENST00000406420		ENSG00000205639	37207		33			HGNC	p.Q106Q		MFSD2B		SNV							ENST00000338315	protein_coding			Superfamily_domains:SSF103473,Pfam_domain:PF13347,Gene3D:1.20.1250.20,hmmpanther:PTHR11328,hmmpanther:PTHR11328:SF30		Q		A		334/1528							YES	MFSD2B,synonymous_variant,p.=,ENST00000338315,;MFSD2B,synonymous_variant,p.=,ENST00000406420,NM_001080473.1;MFSD2B,non_coding_transcript_exon_variant,,ENST00000495018,;MFSD2B,upstream_gene_variant,,ENST00000469562,;							LOW	318/1494		MFS2B_HUMAN			Transcript			.	ENSP00000385527		CCDS46228.1			1	
TF	0	LGGM	GRCh37	3	133476645	133476645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	16	.	.	ENST00000402696.3:c.903C>A	p.Phe301Leu	p.F301L	ENST00000402696	NM_001063.3	301	ttC/ttA	0	1	1	UPI000013D5A6	0	getma.org/pdb.php?prot=TRFE_HUMAN&from=25&to=347&var=F301L	ENST00000402696		ENSG00000091513	11740		42	3.35		HGNC	p.F174L		TF		SNV			1				ENST00000264998	protein_coding	getma.org/?cm=var&var=hg19,3,133476645,C,A&fts=all		Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408		F/L		A	medium	1388/2968		getma.org/?cm=msa&ty=f&p=TRFE_HUMAN&rb=25&re=347&var=F301L	deleterious(0.03)	J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,missense_variant,p.Phe301Leu,ENST00000402696,NM_001063.3;TF,missense_variant,p.Phe174Leu,ENST00000264998,;TF,downstream_gene_variant,,ENST00000482271,;TF,downstream_gene_variant,,ENST00000466911,;TF,downstream_gene_variant,,ENST00000475382,;TFP1,downstream_gene_variant,,ENST00000460564,;TF,missense_variant,p.Pro90Thr,ENST00000485977,;TF,downstream_gene_variant,,ENST00000493011,;TF,downstream_gene_variant,,ENST00000498622,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000494430,;TF,downstream_gene_variant,,ENST00000460531,;TF,downstream_gene_variant,,ENST00000414694,;RP11-404G16.2,upstream_gene_variant,,ENST00000474389,;							MODERATE	903/2097	F301L	TRFE_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000385834		CCDS3080.1			1	
MBTPS2	0	LGGM	GRCh37	X	21887728	21887728	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	8	17	.	.	ENST00000379484.5:c.902C>T	p.Ala301Val	p.A301V	ENST00000379484	NM_015884.3	301	gCc/gTc	0	1	1	UPI000012F5A0	0	NA	ENST00000379484		ENSG00000012174	15455		25	0.205		HGNC	p.A301V		MBTPS2		SNV			1				ENST00000365779	protein_coding	getma.org/?cm=var&var=hg19,X,21887728,C,T&fts=all		hmmpanther:PTHR13325:SF2,hmmpanther:PTHR13325,Pfam_domain:PF02163		A/V		T	neutral	1001/4428		getma.org/?cm=msa&ty=f&p=MBTP2_HUMAN&rb=159&re=516&var=A301V	tolerated(1)				YES	MBTPS2,missense_variant,p.Ala301Val,ENST00000365779,;MBTPS2,missense_variant,p.Ala301Val,ENST00000379484,NM_015884.3;Y_RNA,upstream_gene_variant,,ENST00000383912,;							MODERATE	902/1560	A301V	MBTP2_HUMAN			Transcript		benign(0.017)	.	ENSP00000368798		CCDS14201.1			1	
DRG1	0	LGGM	GRCh37	22	31807004	31807004	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	19	17	.	.	ENST00000331457.4:c.349G>C	p.Asp117His	p.D117H	ENST00000331457	NM_004147.3	117	Gat/Cat	0	1	1	UPI0000129879	0	getma.org/pdb.php?prot=DRG1_HUMAN&from=66&to=249&var=D117H	ENST00000331457		ENSG00000185721	3029		36	4.615		HGNC	p.D117H		DRG1		SNV							ENST00000331457	protein_coding	getma.org/?cm=var&var=hg19,22,31807004,G,C&fts=all		PROSITE_profiles:PS51710,hmmpanther:PTHR11702,PROSITE_patterns:PS00905,Pfam_domain:PF01926,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Superfamily_domains:SSF52540,Prints_domain:PR00326		D/H		C	high	510/1746		getma.org/?cm=msa&ty=f&p=DRG1_HUMAN&rb=66&re=249&var=D117H	deleterious(0)	Q9UFA5_HUMAN			YES	DRG1,missense_variant,p.Asp117His,ENST00000331457,NM_004147.3;DRG1,non_coding_transcript_exon_variant,,ENST00000433341,;DRG1,non_coding_transcript_exon_variant,,ENST00000486584,;DRG1,missense_variant,p.Gly58Ala,ENST00000416465,;							MODERATE	349/1104	D117H	DRG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329715		CCDS13897.1			1	
ANKS1A	0	LGGM	GRCh37	6	35052020	35052020	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	19	17	.	.	ENST00000360359.3:c.3117del	p.Phe1039LeufsTer6	p.F1039Lfs*6	ENST00000360359	NM_015245.2	1039	ttC/tt	0	1	1	UPI00001C1E4D	0		ENST00000360359		ENSG00000064999	20961		36			HGNC	p.F1039fs		ANKS1A		deletion							ENST00000360359	protein_coding			PROSITE_profiles:PS01179,hmmpanther:PTHR24174,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729		F/X		-		3255/6336							YES	ANKS1A,frameshift_variant,p.Phe1039LeufsTer6,ENST00000360359,NM_015245.2;ANKS1A,intron_variant,,ENST00000535627,;ANKS1A,downstream_gene_variant,,ENST00000470698,;							HIGH	3117/3405		ANS1A_HUMAN			Transcript			.	ENSP00000353518		CCDS4798.1			1	
FANCM	0	LGGM	GRCh37	14	45620716	45620716	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	25	17	.	.	ENST00000267430.5:c.1035A>T	p.Pro345=	p.P345=	ENST00000267430	NM_020937.2	345	ccA/ccT	0	1	1	UPI000059F032	0		ENST00000267430		ENSG00000187790	23168		42			HGNC	p.P345P		FANCM		SNV			1				ENST00000267430	protein_coding			Gene3D:1wp9B03,hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		P		T		1120/7111							YES	FANCM,synonymous_variant,p.=,ENST00000267430,NM_020937.2;FANCM,synonymous_variant,p.=,ENST00000542564,;FANCM,synonymous_variant,p.=,ENST00000556036,;FANCM,upstream_gene_variant,,ENST00000556250,;							LOW	1035/6147		FANCM_HUMAN			Transcript			.	ENSP00000267430		CCDS32070.1			1	
RGS5	0	LGGM	GRCh37	1	163117268	163117268	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	49	17	.	.	ENST00000530507.1:c.422A>T	p.Asp141Val	p.D141V	ENST00000530507		141	gAc/gTc	0	1		UPI0000044573	0	getma.org/pdb.php?prot=RGS5_HUMAN&from=64&to=179&var=D137V	ENST00000313961		ENSG00000143248	10001		66	1.84		HGNC	p.D29V		RGS5		SNV							ENST00000527988	protein_coding	getma.org/?cm=var&var=hg19,1,163117268,T,A&fts=all		Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF42,SMART_domains:SM00315,Superfamily_domains:SSF48097		D/V		A	low	688/5862		getma.org/?cm=msa&ty=f&p=RGS5_HUMAN&rb=64&re=179&var=D137V	deleterious(0)					RGS5,missense_variant,p.Asp137Val,ENST00000313961,NM_003617.3,NM_001254749.1;RGS5,missense_variant,p.Asp157Val,ENST00000367903,;RGS5,missense_variant,p.Asp141Val,ENST00000530507,;RGS5,missense_variant,p.Asp29Val,ENST00000527988,NM_001195303.2,NM_001254748.1;RGS5,non_coding_transcript_exon_variant,,ENST00000531954,;RGS5,intron_variant,,ENST00000469495,;RGS5,downstream_gene_variant,,ENST00000525894,;							MODERATE	410/546	D137V	RGS5_HUMAN			Transcript		benign(0.418)	.	ENSP00000319308		CCDS1244.1			1	
PAPPA2	0	LGGM	GRCh37	1	176759099	176759099	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	67	17	.	.	ENST00000367662.3:c.4870C>G	p.Gln1624Glu	p.Q1624E	ENST00000367662	NM_020318.2	1624	Cag/Gag	0	1	1	UPI000004A835	0	NA	ENST00000367662		ENSG00000116183	14615		84	0.695		HGNC	p.Q1624E		PAPPA2		SNV							ENST00000367662	protein_coding	getma.org/?cm=var&var=hg19,1,176759099,C,G&fts=all		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,SMART_domains:SM00032,Superfamily_domains:SSF57535		Q/E		G	neutral	6034/9685		getma.org/?cm=msa&ty=f&p=PAPP2_HUMAN&rb=1593&re=1648&var=Q1624E	tolerated(0.83)				YES	PAPPA2,missense_variant,p.Gln1624Glu,ENST00000367662,NM_020318.2;PAPPA2,upstream_gene_variant,,ENST00000479836,;							MODERATE	4870/5376	Q1624E	PAPP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000356634		CCDS41438.1			1	
CRP	0	LGGM	GRCh37	1	159683800	159683800	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	52	18	.	.	ENST00000255030.5:c.190A>T	p.Thr64Ser	p.T64S	ENST00000255030	NM_000567.2	64	Acc/Tcc	0	1	1	UPI0000128478	0	getma.org/pdb.php?prot=CRP_HUMAN&from=25&to=220&var=T64S	ENST00000255030		ENSG00000132693	2367		70	1.445		HGNC	p.T64S		CRP		SNV							ENST00000343919	protein_coding	getma.org/?cm=var&var=hg19,1,159683800,T,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00354,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF93,SMART_domains:SM00159,Superfamily_domains:SSF49899		T/S		A	low	294/2015		getma.org/?cm=msa&ty=f&p=CRP_HUMAN&rb=25&re=220&var=T64S	deleterious(0.02)	C9JRE9_HUMAN			YES	CRP,missense_variant,p.Thr64Ser,ENST00000255030,NM_000567.2;CRP,missense_variant,p.Thr64Ser,ENST00000368112,;CRP,missense_variant,p.Thr64Ser,ENST00000368110,;CRP,missense_variant,p.Thr64Ser,ENST00000368111,;CRP,missense_variant,p.Thr64Ser,ENST00000343919,;CRP,intron_variant,,ENST00000437342,;CRP,non_coding_transcript_exon_variant,,ENST00000489317,;CRP,upstream_gene_variant,,ENST00000473196,;							MODERATE	190/675	T64S	CRP_HUMAN			Transcript		benign(0.133)	.	ENSP00000255030		CCDS30911.1			1	
DNAJC13	0	LGGM	GRCh37	3	132196675	132196675	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	42	18	.	.	ENST00000260818.6:c.2488T>A	p.Tyr830Asn	p.Y830N	ENST00000260818	NM_015268.3	830	Tat/Aat	0	1	1	UPI000022C1FD	0	NA	ENST00000260818		ENSG00000138246	30343		60	2.24		HGNC	p.Y830N		DNAJC13		SNV			1				ENST00000260818	protein_coding	getma.org/?cm=var&var=hg19,3,132196675,T,A&fts=all		Superfamily_domains:SSF48371		Y/N		A	medium	2736/7730		getma.org/?cm=msa&ty=f&p=DJC13_HUMAN&rb=801&re=974&var=Y830N	deleterious(0)				YES	DNAJC13,missense_variant,p.Tyr830Asn,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000464766,;DNAJC13,upstream_gene_variant,,ENST00000506813,;							MODERATE	2488/6732	Y830N	DJC13_HUMAN			Transcript		possibly_damaging(0.744)	.	ENSP00000260818		CCDS33857.1			1	
NRP2	0	LGGM	GRCh37	2	206641108	206641108	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	25	18	.	.	ENST00000360409.3:c.2440+9566A>C		*814*	ENST00000360409	NM_003872.2			0	1	1	UPI000014020F	0		ENST00000360409		ENSG00000118257	8005		43			HGNC	p.H855P		NRP2		SNV							ENST00000357118	protein_coding							C		-/6662				C9JH98_HUMAN			YES	NRP2,missense_variant,p.His855Pro,ENST00000357118,NM_201267.1;NRP2,missense_variant,p.His860Pro,ENST00000272849,NM_018534.3;NRP2,intron_variant,,ENST00000360409,NM_003872.2,NM_201266.1,NM_201279.1;NRP2,intron_variant,,ENST00000540178,;NRP2,intron_variant,,ENST00000540841,;NRP2,intron_variant,,ENST00000357785,;NRP2,intron_variant,,ENST00000412873,;NRP2,intron_variant,,ENST00000467850,;AC007362.1,upstream_gene_variant,,ENST00000315950,;							MODIFIER	-/2796		NRP2_HUMAN			Transcript			.	ENSP00000353582		CCDS2364.1			1	
TNRC6A	0	LGGM	GRCh37	16	24801546	24801546	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	35	18	.	.	ENST00000395799.3:c.1583A>G	p.Asn528Ser	p.N528S	ENST00000395799	NM_014494.2	528	aAt/aGt	0	1	1	UPI000059D33E	0	NA	ENST00000395799		ENSG00000090905	11969		53	0.55		HGNC	p.N528S	COSM116971	TNRC6A		SNV						1	ENST00000395799	protein_coding	getma.org/?cm=var&var=hg19,16,24801546,A,G&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28		N/S		G	neutral	1712/8438		getma.org/?cm=msa&ty=f&p=TNR6A_HUMAN&rb=401&re=600&var=N528S	tolerated(0.85)	G8JLL8_HUMAN			YES	TNRC6A,missense_variant,p.Asn528Ser,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.Asn528Ser,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000568903,;TNRC6A,upstream_gene_variant,,ENST00000567232,;					1		MODERATE	1583/5889	N528S	TNR6A_HUMAN			Transcript		benign(0.001)	.	ENSP00000379144		CCDS10624.2			1	
HECTD1	0	LGGM	GRCh37	14	31604744	31604744	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	25	18	.	.	ENST00000399332.1:c.3192A>G	p.Ile1064Met	p.I1064M	ENST00000399332	NM_015382.2	1064	atA/atG	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		43	0.69		HGNC	p.I1064M	rs767187305	HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31604744,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75		I/M		C	neutral	3681/9134	0.000121	getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=885&re=1084&var=I1064M	tolerated(0.06)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Ile1064Met,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Ile1064Met,ENST00000553700,;HECTD1,missense_variant,p.Ile538Met,ENST00000553957,;HECTD1,upstream_gene_variant,,ENST00000557369,;HECTD1,downstream_gene_variant,,ENST00000554850,;							MODERATE	3192/7833	I1064M	HECD1_HUMAN			Transcript		benign(0.005)	.	ENSP00000382269	6.62E-05	CCDS41939.1			1	
MYCT1	0	LGGM	GRCh37	6	153043236	153043236	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	18	.	.	ENST00000367245.5:c.556A>T	p.Thr186Ser	p.T186S	ENST00000367245	NM_025107.2	186	Act/Tct	0	1	1	UPI0000073EDB	0	NA	ENST00000367245		ENSG00000120279	23172		48	0.11		HGNC	p.T186S		MYCT1		SNV							ENST00000367245	protein_coding	getma.org/?cm=var&var=hg19,6,153043236,A,T&fts=all		Pfam_domain:PF15179,hmmpanther:PTHR14869		T/S		T	neutral	564/3030		getma.org/?cm=msa&ty=f&p=MYCT1_HUMAN&rb=67&re=233&var=T186S	tolerated(0.13)	D6Q1S4_HUMAN			YES	MYCT1,missense_variant,p.Thr186Ser,ENST00000367245,NM_025107.2;MYCT1,missense_variant,p.Thr167Ser,ENST00000532295,;MYCT1,intron_variant,,ENST00000529453,;							MODERATE	556/708	T186S	MYCT1_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000356214		CCDS5239.1			1	
UBR2	0	LGGM	GRCh37	6	42650849	42650849	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	13	19	.	.	ENST00000372899.1:c.4775G>A	p.Arg1592Lys	p.R1592K	ENST00000372899	NM_015255.2	1592	aGa/aAa	0	1	1	UPI0000074466	0	NA	ENST00000372899		ENSG00000024048	21289		32	1.185		HGNC	p.R1592K		UBR2		SNV							ENST00000372901	protein_coding	getma.org/?cm=var&var=hg19,6,42650849,G,A&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28		R/K		A	low	5033/7857		getma.org/?cm=msa&ty=f&p=UBR2_HUMAN&rb=1503&re=1702&var=R1592K	tolerated(0.22)	B3KXG6_HUMAN			YES	UBR2,missense_variant,p.Arg1592Lys,ENST00000372899,NM_015255.2;UBR2,missense_variant,p.Arg1592Lys,ENST00000372901,;UBR2,splice_region_variant,,ENST00000372883,;							MODERATE	4775/5268	R1592K	UBR2_HUMAN			Transcript		benign(0.021)	.	ENSP00000361990		CCDS4870.1			1	
GLI3	0	LGGM	GRCh37	7	42004446	42004446	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	32	19	.	.	ENST00000395925.3:c.4225C>T	p.Leu1409Phe	p.L1409F	ENST00000395925	NM_000168.5	1409	Ctc/Ttc	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		51	0.69		HGNC	p.L1409F	rs556261915	GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42004446,G,A&fts=all	A:0	hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		L/F		A	neutral	4310/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=1091&re=1578&var=L1409F	tolerated_low_confidence(0.14)	C9J9N4_HUMAN	A:0	A:0.001	YES	GLI3,missense_variant,p.Leu1409Phe,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;	0.000232	A:0.0002					MODERATE	4225/4743	L1409F	GLI3_HUMAN	0.000151	A:0	Transcript		benign(0.003)	.	ENSP00000379258	2.47E-05	CCDS5465.1		A:0	1	
YME1L1	0	LGGM	GRCh37	10	27401042	27401042	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	20	.	.	ENST00000326799.3:c.2186A>G	p.Tyr729Cys	p.Y729C	ENST00000326799	NM_139312.2	729	tAt/tGt	0	1	1	UPI000013DBDD	0	getma.org/pdb.php?prot=YMEL1_HUMAN&from=566&to=764&var=Y729C	ENST00000326799		ENSG00000136758	12843		50	3.945		HGNC	p.Y672C		YME1L1		SNV							ENST00000376016	protein_coding	getma.org/?cm=var&var=hg19,10,27401042,T,C&fts=all		HAMAP:MF_01458,Pfam_domain:PF01434,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF37,Superfamily_domains:SSF140990,TIGRFAM_domain:TIGR01241		Y/C		C	high	2335/3994		getma.org/?cm=msa&ty=f&p=YMEL1_HUMAN&rb=566&re=764&var=Y729C	deleterious(0)				YES	YME1L1,missense_variant,p.Tyr729Cys,ENST00000326799,NM_139312.2;YME1L1,missense_variant,p.Tyr672Cys,ENST00000376016,NM_014263.3;YME1L1,missense_variant,p.Tyr639Cys,ENST00000375972,NM_001253866.1;							MODERATE	2186/2322	Y729C	YMEL1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000318480		CCDS7152.1			1	
PPP1R12B	0	LGGM	GRCh37	1	202533646	202533646	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	85	20	.	.	ENST00000608999.1:c.2728A>G	p.Ile910Val	p.I910V	ENST00000608999	NM_002481.3	910	Ata/Gta	0	1	1	UPI0000458A57	0	NA	ENST00000608999		ENSG00000077157	7619		105	-0.045		HGNC	p.I136V	rs747686262	PPP1R12B		SNV							ENST00000391959	protein_coding	getma.org/?cm=var&var=hg19,1,202533646,A,G&fts=all		Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18		I/V		G	neutral	2881/15248		getma.org/?cm=msa&ty=f&p=MYPT2_HUMAN&rb=608&re=980&var=I910V	tolerated(1)				YES	PPP1R12B,missense_variant,p.Ile910Val,ENST00000608999,NM_002481.3,NM_001197131.1;PPP1R12B,missense_variant,p.Ile910Val,ENST00000336894,;PPP1R12B,missense_variant,p.Ile136Val,ENST00000367270,NM_032104.2;PPP1R12B,missense_variant,p.Ile136Val,ENST00000391959,NM_032103.2,NM_001197131.1;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000290419,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000491336,;PPP1R12B,upstream_gene_variant,,ENST00000465284,;PPP1R12B,upstream_gene_variant,,ENST00000462074,;PPP1R12B,downstream_gene_variant,,ENST00000466273,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000367269,;							MODERATE	2728/2949	I910V				Transcript		benign(0)	.	ENSP00000476755		CCDS1426.1			1	
OR52W1	0	LGGM	GRCh37	11	6221066	6221066	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	32	20	.	.	ENST00000311352.2:c.613C>A	p.Leu205Met	p.L205M	ENST00000311352	NM_001005178.1	205	Ctg/Atg	0	1	1	UPI000004B213	0	NA	ENST00000311352		ENSG00000175485	15239		52	2.165		HGNC	p.L205M		OR52W1		SNV							ENST00000311352	protein_coding	getma.org/?cm=var&var=hg19,11,6221066,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF58,hmmpanther:PTHR26450,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/M		A	medium	691/1114		getma.org/?cm=msa&ty=f&p=O52W1_HUMAN&rb=139&re=291&var=L205M	deleterious(0.04)				YES	OR52W1,missense_variant,p.Leu205Met,ENST00000311352,NM_001005178.1;RP11-290F24.6,downstream_gene_variant,,ENST00000600308,;							MODERATE	613/963	L205M	O52W1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000309673		CCDS31407.1			1	
TRIM17	0	LGGM	GRCh37	1	228596854	228596854	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	49	21	.	.	ENST00000366697.2:c.883+19C>T		*295*	ENST00000366697				0	1		UPI000000163B	0	NA	ENST00000295033		ENSG00000162931	13430		70	0.345		HGNC	p.A301V		TRIM17		SNV							ENST00000456946	protein_coding	getma.org/?cm=var&var=hg19,1,228596854,G,A&fts=all						A	neutral	-/1730		getma.org/?cm=msa&ty=f&p=B7ZAR4_HUMAN&rb=136&re=335&var=A302V		J3KQG0_HUMAN,J3KNZ3_HUMAN,E5RJW6_HUMAN,E5RI62_HUMAN				TRIM17,missense_variant,p.Ala301Val,ENST00000456946,NM_001134855.1;TRIM17,intron_variant,,ENST00000366697,;TRIM17,intron_variant,,ENST00000366698,NM_016102.3;TRIM17,intron_variant,,ENST00000295033,NM_001024940.2;TRIM11,upstream_gene_variant,,ENST00000493030,;TRIM11,upstream_gene_variant,,ENST00000284551,NM_145214.2;TRIM11,upstream_gene_variant,,ENST00000366699,;TRIM17,downstream_gene_variant,,ENST00000479800,;TRIM17,downstream_gene_variant,,ENST00000355586,;TRIM11,upstream_gene_variant,,ENST00000602582,;TRIM11,upstream_gene_variant,,ENST00000602308,;RP11-245P10.4,intron_variant,,ENST00000436779,;							MODIFIER	-/1434	A302V	TRI17_HUMAN			Transcript			.	ENSP00000295033		CCDS1571.1			1	
CLEC1B	0	LGGM	GRCh37	12	10150953	10150953	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	22	.	.	ENST00000298527.6:c.91C>T	p.Arg31Cys	p.R31C	ENST00000298527	NM_016509.3	31	Cgt/Tgt	0	1	1	UPI000013E4EA	0	NA	ENST00000298527		ENSG00000165682	24356	8.65E-05	52	2.66		HGNC	p.R31C	rs754369087	CLEC1B		SNV							ENST00000298527	protein_coding	getma.org/?cm=var&var=hg19,12,10150953,G,A&fts=all		hmmpanther:PTHR22800:SF9,hmmpanther:PTHR22800		R/C		A	medium	271/952	9.00E-05	getma.org/?cm=msa&ty=f&p=CLC1B_HUMAN&rb=1&re=63&var=R31C	deleterious(0)				YES	CLEC1B,missense_variant,p.Arg31Cys,ENST00000298527,NM_016509.3;CLEC1B,intron_variant,,ENST00000428126,;CLEC1B,intron_variant,,ENST00000348658,NM_001099431.1;CLEC1B,upstream_gene_variant,,ENST00000398937,;CLEC12A,downstream_gene_variant,,ENST00000449959,;							MODERATE	91/690	R31C	CLC1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000298527	5.78E-05	CCDS41752.1			1	
MTA2	0	LGGM	GRCh37	11	62365092	62365092	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	44	22	.	.	ENST00000278823.2:c.583G>A	p.Val195Met	p.V195M	ENST00000278823	NM_004739.3	195	Gtg/Atg	0	1	1	UPI000012F743	0	NA	ENST00000278823		ENSG00000149480	7411		66	2.83		HGNC	p.V195M		MTA2		SNV							ENST00000278823	protein_coding	getma.org/?cm=var&var=hg19,11,62365092,C,T&fts=all		Pfam_domain:PF01448,hmmpanther:PTHR10865:SF4,hmmpanther:PTHR10865,PROSITE_profiles:PS51156		V/M		T	medium	973/3058		getma.org/?cm=msa&ty=f&p=MTA2_HUMAN&rb=147&re=201&var=V195M	deleterious(0)	Q68DB1_HUMAN			YES	MTA2,missense_variant,p.Val195Met,ENST00000278823,NM_004739.3;MTA2,missense_variant,p.Val22Met,ENST00000524902,;MTA2,missense_variant,p.Val22Met,ENST00000527204,;EML3,downstream_gene_variant,,ENST00000394773,NM_153265.2;EML3,downstream_gene_variant,,ENST00000278845,;EML3,downstream_gene_variant,,ENST00000529309,;EML3,downstream_gene_variant,,ENST00000494176,;EML3,downstream_gene_variant,,ENST00000394776,;EML3,downstream_gene_variant,,ENST00000531557,;EML3,downstream_gene_variant,,ENST00000439994,;MTA2,non_coding_transcript_exon_variant,,ENST00000531261,;EML3,downstream_gene_variant,,ENST00000494448,;EML3,downstream_gene_variant,,ENST00000460939,;MTA2,downstream_gene_variant,,ENST00000526844,;MTA2,upstream_gene_variant,,ENST00000531179,;MTA2,downstream_gene_variant,,ENST00000532239,;							MODERATE	583/2007	V195M	MTA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000278823		CCDS8022.1			1	
POLR2B	0	LGGM	GRCh37	4	57881681	57881681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	27	22	.	.	ENST00000381227.1:c.1814G>T	p.Arg605Ile	p.R605I	ENST00000381227		605	aGa/aTa	0	1		UPI00001345D1	0	getma.org/pdb.php?prot=RPB2_HUMAN&from=567&to=630&var=R605I	ENST00000314595		ENSG00000047315	9188		49	2.365		HGNC	p.R605I		POLR2B		SNV							ENST00000314595	protein_coding	getma.org/?cm=var&var=hg19,4,57881681,G,T&fts=all		Superfamily_domains:SSF64484,Pfam_domain:PF04566,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF7,Low_complexity_(Seg):seg		R/I		T	medium	1857/3748		getma.org/?cm=msa&ty=f&p=RPB2_HUMAN&rb=567&re=630&var=R605I	deleterious(0.04)	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN				POLR2B,missense_variant,p.Arg605Ile,ENST00000381227,;POLR2B,missense_variant,p.Arg598Ile,ENST00000441246,;POLR2B,missense_variant,p.Arg605Ile,ENST00000314595,NM_000938.1;POLR2B,missense_variant,p.Arg530Ile,ENST00000431623,;POLR2B,non_coding_transcript_exon_variant,,ENST00000510355,;POLR2B,non_coding_transcript_exon_variant,,ENST00000478188,;							MODERATE	1814/3525	R605I	RPB2_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000312735		CCDS3511.1			1	
FYB	0	LGGM	GRCh37	5	39202820	39202820	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	40	22	.	.	ENST00000540520.1:c.273G>A	p.Pro91=	p.P91=	ENST00000540520	NM_001243093.1	91	ccG/ccA	0	1		UPI000020C9D5	0		ENST00000351578		ENSG00000082074	4036	0.00157	62			HGNC	p.P81P	rs370543019,COSM2689665,COSM2689664,COSM2689663,COSM2689666	FYB	0.000182	SNV	T:0.0005			0.000409		0,1,1,1,1	ENST00000512138	protein_coding		T:0	Low_complexity_(Seg):seg,hmmpanther:PTHR16830:SF10,hmmpanther:PTHR16830		P	T:0	T		434/4750	7.52E-05			D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN	T:0	T:0.001		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,;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,;	0.000471	T:0.0002			0,1,1,1,1		LOW	243/2352		FYB_HUMAN	0.000152	T:0	Transcript			common_variant	ENSP00000316460	0.000298	CCDS47200.1	0.00112	T:0	1	
ATRX	0	LGGM	GRCh37	X	76954072	76954072	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	3	23	.	.	ENST00000373344.5:c.179G>A	p.Ser60Asn	p.S60N	ENST00000373344	NM_000489.3	60	aGc/aAc	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		26	-0.29		HGNC	p.S21N		ATRX		SNV			1				ENST00000373341	protein_coding	getma.org/?cm=var&var=hg19,X,76954072,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		S/N		T	neutral	394/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=1&re=200&var=S60N		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Ser60Asn,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Ser60Asn,ENST00000395603,NM_138270.2;ATRX,missense_variant,p.Ser21Asn,ENST00000373341,;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;							MODERATE	179/7479	S60N	ATRX_HUMAN			Transcript		benign(0.001)	.	ENSP00000362441		CCDS14434.1			1	
ASPA	0	LGGM	GRCh37	17	3379609	3379609	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	47	24	.	.	ENST00000263080.2:c.156T>C	p.Ile52=	p.I52=	ENST00000263080	NM_000049.2	52	atT/atC	0	1	1	UPI00000012D1	0		ENST00000263080		ENSG00000108381	756		71			HGNC	p.I52I		ASPA		SNV			1				ENST00000577034	protein_coding			Gene3D:3.40.630.10,HAMAP:MF_00704,Pfam_domain:PF04952,PIRSF_domain:PIRSF018001,hmmpanther:PTHR15162,hmmpanther:PTHR15162:SF4,Superfamily_domains:SSF53187		I		C		314/5431				Q6FH48_HUMAN,I3L0T3_HUMAN			YES	ASPA,synonymous_variant,p.=,ENST00000263080,NM_000049.2;ASPA,synonymous_variant,p.=,ENST00000456349,NM_001128085.1;ASPA,synonymous_variant,p.=,ENST00000577034,;SPATA22,intron_variant,,ENST00000541913,;SPATA22,intron_variant,,ENST00000570318,;SPATA22,upstream_gene_variant,,ENST00000573128,;SPATA22,upstream_gene_variant,,ENST00000397168,NM_032598.4;SPATA22,upstream_gene_variant,,ENST00000572969,NM_001170698.1;SPATA22,upstream_gene_variant,,ENST00000575375,NM_001170697.1,NM_001170695.1;SPATA22,upstream_gene_variant,,ENST00000268981,NM_001170699.1;SPATA22,upstream_gene_variant,,ENST00000355380,NM_001170696.1;SPATA22,upstream_gene_variant,,ENST00000572582,;SPATA22,upstream_gene_variant,,ENST00000571553,;SPATA22,upstream_gene_variant,,ENST00000574457,;SPATA22,upstream_gene_variant,,ENST00000574797,;ASPA,intron_variant,,ENST00000571278,;							LOW	156/942		ACY2_HUMAN			Transcript			.	ENSP00000263080		CCDS11028.1			1	
ZNF254	0	LGGM	GRCh37	19	24310759	24310759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	42	24	.	.	ENST00000357002.4:c.1957T>C	p.Trp653Arg	p.W653R	ENST00000357002	NM_203282.3	653	Tgg/Cgg	0	1	1	UPI0000366DB6	0	getma.org/pdb.php?prot=ZN254_HUMAN&from=642&to=659&var=W653R	ENST00000357002		ENSG00000213096	13047		66	-0.645		HGNC	p.W568R		ZNF254		SNV							ENST00000342944	protein_coding	getma.org/?cm=var&var=hg19,19,24310759,T,C&fts=all		Superfamily_domains:SSF57667		W/R		C	neutral	2072/3967		getma.org/?cm=msa&ty=f&p=ZN254_HUMAN&rb=612&re=659&var=W653R	deleterious(0.02)	F5H2M4_HUMAN			YES	ZNF254,missense_variant,p.Trp653Arg,ENST00000357002,NM_203282.3,NM_001278677.1,NM_001278664.1,NM_001278661.1,NM_001278662.1;ZNF254,missense_variant,p.Trp568Arg,ENST00000342944,NM_001278663.1,NM_001278678.1;ZNF254,downstream_gene_variant,,ENST00000594886,;ZNF254,downstream_gene_variant,,ENST00000595187,;							MODERATE	1957/1980	W653R	ZN254_HUMAN			Transcript		benign(0)	.	ENSP00000349494		CCDS32983.1			1	
STARD6	0	LGGM	GRCh37	18	51858190	51858190	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	24	.	.	ENST00000581310.1:c.307G>A	p.Val103Met	p.V103M	ENST00000581310		103	Gtg/Atg	0	1		UPI0000136137	0	getma.org/pdb.php?prot=STAR6_HUMAN&from=6&to=209&var=V103M	ENST00000307844		ENSG00000174448	18066		50	-2.565		HGNC	p.R10H	rs756363417	STARD6	0.000606	SNV				9.61E-05			ENST00000580990	protein_coding	getma.org/?cm=var&var=hg19,18,51858190,C,T&fts=all		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7,SMART_domains:SM00234,Superfamily_domains:SSF55961		V/M		T	neutral	307/663	6.00E-05	getma.org/?cm=msa&ty=f&p=STAR6_HUMAN&rb=6&re=209&var=V103M	tolerated(1)					STARD6,missense_variant,p.Val103Met,ENST00000581310,;STARD6,missense_variant,p.Arg10His,ENST00000580990,;STARD6,missense_variant,p.Val103Met,ENST00000307844,NM_139171.1;							MODERATE	307/663	V103M	STAR6_HUMAN			Transcript		benign(0)	common_variant	ENSP00000310814	0.000124	CCDS11955.1			1	
ITK	0	LGGM	GRCh37	5	156679651	156679651	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	34	25	.	.	ENST00000422843.3:c.1826T>A	p.Leu609Gln	p.L609Q	ENST00000422843	NM_005546.3	609	cTg/cAg	0	1	1	UPI000004CADA	0	getma.org/pdb.php?prot=ITK_HUMAN&from=363&to=612&var=L609Q	ENST00000422843		ENSG00000113263	6171		59	1.895		HGNC	p.L609Q		ITK		SNV			1				ENST00000422843	protein_coding	getma.org/?cm=var&var=hg19,5,156679651,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Gene3D:1.10.510.10,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112		L/Q		A	low	1978/4528		getma.org/?cm=msa&ty=f&p=ITK_HUMAN&rb=363&re=612&var=L609Q	deleterious(0.02)	Q7Z318_HUMAN,E5RFR5_HUMAN			YES	ITK,missense_variant,p.Leu609Gln,ENST00000422843,NM_005546.3;ITK,non_coding_transcript_exon_variant,,ENST00000519749,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;							MODERATE	1826/1863	L609Q	ITK_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000398655		CCDS4336.1			1	
MED1	0	LGGM	GRCh37	17	37564489	37564489	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	39	25	.	.	ENST00000300651.6:c.3985A>T	p.Met1329Leu	p.M1329L	ENST00000300651	NM_004774.3	1329	Atg/Ttg	0	1	1	UPI0000167F57	0	NA	ENST00000300651		ENSG00000125686	9234		64	0		HGNC	p.M1329L		MED1		SNV							ENST00000300651	protein_coding	getma.org/?cm=var&var=hg19,17,37564489,T,A&fts=all		hmmpanther:PTHR12881		M/L		A	neutral	4209/5844		getma.org/?cm=msa&ty=f&p=MED1_HUMAN&rb=1282&re=1481&var=M1329L	tolerated_low_confidence(1)				YES	MED1,missense_variant,p.Met1329Leu,ENST00000300651,NM_004774.3;MED1,intron_variant,,ENST00000394287,;CTB-131K11.1,downstream_gene_variant,,ENST00000582842,;MED1,3_prime_UTR_variant,,ENST00000577831,;							MODERATE	3985/4746	M1329L	MED1_HUMAN			Transcript		unknown(0)	.	ENSP00000300651		CCDS11336.1			1	
ASPM	0	LGGM	GRCh37	1	197071490	197071490	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	93	25	.	.	ENST00000367409.4:c.6891G>A	p.Arg2297=	p.R2297=	ENST00000367409	NM_018136.4	2297	cgG/cgA	0	1	1	UPI0000458904	0		ENST00000367409		ENSG00000066279	19048		118			HGNC	p.R2297R	rs776527804	ASPM		SNV			1				ENST00000367409	protein_coding			hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,SMART_domains:SM00015,Superfamily_domains:SSF52540		R		T		7148/10887	1.50E-05						YES	ASPM,synonymous_variant,p.=,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;							LOW	6891/10434		ASPM_HUMAN			Transcript			.	ENSP00000356379	8.24E-06	CCDS1389.1			1	
PNLIPRP1	0	LGGM	GRCh37	10	118364981	118364981	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	37	26	.	.	ENST00000528052.1:c.1256T>G	p.Leu419Arg	p.L419R	ENST00000528052		419	cTt/cGt	0	1		UPI000012E6AA	0	getma.org/pdb.php?prot=LIPR1_HUMAN&from=358&to=465&var=L419R	ENST00000358834		ENSG00000187021	9156		63	2.035		HGNC	p.L419R		PNLIPRP1		SNV							ENST00000528052	protein_coding	getma.org/?cm=var&var=hg19,10,118364981,T,G&fts=all		Prints_domain:PR00821,Superfamily_domains:SSF49723,PIRSF_domain:PIRSF000865,SMART_domains:SM00308,Gene3D:2.60.60.20,Pfam_domain:PF01477,hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610,PROSITE_profiles:PS50095		L/R		G	medium	1290/1497		getma.org/?cm=msa&ty=f&p=LIPR1_HUMAN&rb=358&re=465&var=L419R	deleterious(0.03)	E9PR20_HUMAN,E9PMA6_HUMAN				PNLIPRP1,missense_variant,p.Leu419Arg,ENST00000528052,;PNLIPRP1,missense_variant,p.Leu419Arg,ENST00000358834,NM_006229.2;PNLIPRP1,missense_variant,p.Leu419Arg,ENST00000534537,;PNLIPRP1,3_prime_UTR_variant,,ENST00000482833,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,downstream_gene_variant,,ENST00000534513,;							MODERATE	1256/1404	L419R	LIPR1_HUMAN			Transcript		benign(0.312)	.	ENSP00000351695		CCDS7595.1			1	
CAAP1	0	LGGM	GRCh37	9	26842578	26842578	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	38	27	.	.	ENST00000333916.5:c.807A>T	p.Pro269=	p.P269=	ENST00000333916	NM_024828.3	269	ccA/ccT	0	1	1	UPI000013D280	0		ENST00000333916		ENSG00000120159	25834		65			HGNC	p.P124P		CAAP1		SNV							ENST00000535437	protein_coding			hmmpanther:PTHR14740		P		A		896/2791							YES	CAAP1,synonymous_variant,p.=,ENST00000333916,NM_024828.3,NM_001167575.1;CAAP1,synonymous_variant,p.=,ENST00000535437,;CAAP1,3_prime_UTR_variant,,ENST00000520187,;CAAP1,3_prime_UTR_variant,,ENST00000483493,;							LOW	807/1086		CAAP1_HUMAN			Transcript			.	ENSP00000369431		CCDS6516.1			1	
IZUMO3	0	LGGM	GRCh37	9	24545244	24545244	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	42	28	.	.	ENST00000543880.2:c.267T>C	p.Asn89=	p.N89=	ENST00000543880		89	aaT/aaC	0	1	1	UPI0001A336C5	0		ENST00000543880		ENSG00000205442	31421		70			HGNC	p.N89N		IZUMO3		SNV							ENST00000543880	protein_coding			Pfam_domain:PF15005		N		G		499/1229							YES	IZUMO3,synonymous_variant,p.=,ENST00000543880,;IZUMO3,synonymous_variant,p.=,ENST00000604921,NM_001271706.1;IZUMO3,intron_variant,,ENST00000418122,;RP11-20A20.2,upstream_gene_variant,,ENST00000602851,;RP11-20A20.2,upstream_gene_variant,,ENST00000602614,;							LOW	267/720		IZUM3_HUMAN			Transcript			.	ENSP00000438895					1	
ADH4	0	LGGM	GRCh37	4	100057718	100057718	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	43	29	.	.	ENST00000265512.7:c.481A>G	p.Ile161Val	p.I161V	ENST00000265512	NM_000670.3	161	Atc/Gtc	0	1	1	UPI00001AE8DE	0	getma.org/pdb.php?prot=ADH4_HUMAN&from=34&to=166&var=I161V	ENST00000265512		ENSG00000198099	252		72	1.4		HGNC	p.I180V		ADH4		SNV							ENST00000423445	protein_coding	getma.org/?cm=var&var=hg19,4,100057718,T,C&fts=all		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,SMART_domains:SM00829,Superfamily_domains:SSF50129		I/V		C	low	556/1993		getma.org/?cm=msa&ty=f&p=ADH4_HUMAN&rb=34&re=166&var=I161V	tolerated(0.12)				YES	ADH4,missense_variant,p.Ile180Val,ENST00000508393,;ADH4,missense_variant,p.Ile161Val,ENST00000265512,NM_000670.3;ADH4,missense_variant,p.Ile180Val,ENST00000423445,;ADH4,missense_variant,p.Ile180Val,ENST00000505590,;ADH4,missense_variant,p.Ile180Val,ENST00000512499,;ADH4,missense_variant,p.Ile143Val,ENST00000504125,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,non_coding_transcript_exon_variant,,ENST00000503944,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,non_coding_transcript_exon_variant,,ENST00000503416,;ADH4,upstream_gene_variant,,ENST00000509471,;ADH4,downstream_gene_variant,,ENST00000504894,;							MODERATE	481/1143	I161V	ADH4_HUMAN			Transcript		benign(0.001)	.	ENSP00000265512		CCDS34032.1			1	
EPHA7	0	LGGM	GRCh37	6	93965681	93965681	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	29	29	.	.	ENST00000369303.4:c.2247G>T	p.Leu749Phe	p.L749F	ENST00000369303	NM_004440.3	749	ttG/ttT	0	1	1	UPI0000044771	0	getma.org/pdb.php?prot=EPHA7_HUMAN&from=633&to=890&var=L749F	ENST00000369303		ENSG00000135333	3390		58	3.81		HGNC	p.L749F		EPHA7		SNV							ENST00000369303	protein_coding	getma.org/?cm=var&var=hg19,6,93965681,C,A&fts=all		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		L/F		A	high	2432/6588		getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=633&re=890&var=L749F	deleterious(0)				YES	EPHA7,missense_variant,p.Leu749Phe,ENST00000369303,NM_004440.3,NM_001288629.1;							MODERATE	2247/2997	L749F	EPHA7_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000358309		CCDS5031.1			1	
DNAH9	0	LGGM	GRCh37	17	11511487	11511487	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	70	29	.	.	ENST00000262442.4:c.459C>T	p.Asn153=	p.N153=	ENST00000262442	NM_001372.3	153	aaC/aaT	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		99			HGNC	p.N153N		DNAH9		SNV							ENST00000579828	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676		N		T		527/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;DNAH9,synonymous_variant,p.=,ENST00000579828,;DNAH9,upstream_gene_variant,,ENST00000579602,;DNAH9,upstream_gene_variant,,ENST00000579813,;DNAH9,non_coding_transcript_exon_variant,,ENST00000579406,;							LOW	459/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
ZFP41	0	LGGM	GRCh37	8	144332338	144332338	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	29	.	.	ENST00000330701.4:c.325C>T	p.His109Tyr	p.H109Y	ENST00000330701	NM_173832.4	109	Cac/Tac	0	1	1	UPI0000070522	0	getma.org/pdb.php?prot=ZFP41_HUMAN&from=103&to=126&var=H109Y	ENST00000330701		ENSG00000181638	26786		55	2.565		HGNC	p.H109Y		ZFP41		SNV							ENST00000520584	protein_coding	getma.org/?cm=var&var=hg19,8,144332338,C,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24409,PROSITE_profiles:PS50157		H/Y		T	medium	694/4797		getma.org/?cm=msa&ty=f&p=ZFP41_HUMAN&rb=83&re=146&var=H109Y	deleterious(0)				YES	ZFP41,missense_variant,p.His109Tyr,ENST00000330701,NM_173832.4;ZFP41,missense_variant,p.His109Tyr,ENST00000520584,NM_001271156.1;ZFP41,missense_variant,p.His109Tyr,ENST00000522452,;ZFP41,downstream_gene_variant,,ENST00000522233,;ZFP41,downstream_gene_variant,,ENST00000517702,;							MODERATE	325/597	H109Y	ZFP41_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000327427		CCDS6397.1			1	
PWP2	0	LGGM	GRCh37	21	45546786	45546786	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	29	.	.	ENST00000291576.7:c.2080A>T	p.Met694Leu	p.M694L	ENST00000291576	NM_005049.2	694	Atg/Ttg	0	1	1	UPI0000169D5D	0	NA	ENST00000291576		ENSG00000241945	9711		59	0.915		HGNC	p.M694L	rs745842739	PWP2	6.06E-05	SNV							ENST00000291576	protein_coding	getma.org/?cm=var&var=hg19,21,45546786,A,T&fts=all		hmmpanther:PTHR19858,Gene3D:2.130.10.10,SMART_domains:SM00320		M/L		T	low	2207/3297		getma.org/?cm=msa&ty=f&p=PWP2_HUMAN&rb=530&re=729&var=M694L	tolerated(0.16)				YES	PWP2,missense_variant,p.Met694Leu,ENST00000291576,NM_005049.2;PWP2,non_coding_transcript_exon_variant,,ENST00000494310,;PWP2,non_coding_transcript_exon_variant,,ENST00000471490,;PWP2,upstream_gene_variant,,ENST00000476948,;							MODERATE	2080/2760	M694L	PWP2_HUMAN			Transcript		benign(0.013)	.	ENSP00000291576	8.24E-06	CCDS33579.1			1	
DNAJC16	0	LGGM	GRCh37	1	15894417	15894417	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	49	29	.	.	ENST00000375847.3:c.2094A>T	p.Val698=	p.V698=	ENST00000375847	NM_015291.2	698	gtA/gtT	0	1	1	UPI000000DBDB	0		ENST00000375847		ENSG00000116138	29157		78			HGNC	p.V698V		DNAJC16		SNV							ENST00000375847	protein_coding			hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143		V		T		2258/6069				B3KMS3_HUMAN			YES	DNAJC16,synonymous_variant,p.=,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,intron_variant,,ENST00000375849,;AGMAT,downstream_gene_variant,,ENST00000375826,NM_024758.4;DNAJC16,downstream_gene_variant,,ENST00000375838,;RP4-680D5.8,upstream_gene_variant,,ENST00000606186,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000483270,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000490811,;DNAJC16,upstream_gene_variant,,ENST00000495523,;DNAJC16,downstream_gene_variant,,ENST00000479655,;DNAJC16,3_prime_UTR_variant,,ENST00000475133,;DNAJC16,downstream_gene_variant,,ENST00000472665,;							LOW	2094/2349		DJC16_HUMAN			Transcript			.	ENSP00000365007		CCDS30606.1			1	
ZFP41	0	LGGM	GRCh37	8	144332337	144332337	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	26	30	.	.	ENST00000330701.4:c.324C>G	p.Val108=	p.V108=	ENST00000330701	NM_173832.4	108	gtC/gtG	0	1	1	UPI0000070522	0		ENST00000330701		ENSG00000181638	26786		56			HGNC	p.V108V		ZFP41		SNV							ENST00000520584	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24409,PROSITE_profiles:PS50157		V		G		693/4797							YES	ZFP41,synonymous_variant,p.=,ENST00000330701,NM_173832.4;ZFP41,synonymous_variant,p.=,ENST00000520584,NM_001271156.1;ZFP41,synonymous_variant,p.=,ENST00000522452,;ZFP41,downstream_gene_variant,,ENST00000522233,;ZFP41,downstream_gene_variant,,ENST00000517702,;							LOW	324/597		ZFP41_HUMAN			Transcript			.	ENSP00000327427		CCDS6397.1			1	
MS4A14	0	LGGM	GRCh37	11	60170407	60170407	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	62	30	.	.	ENST00000531783.1:c.341A>G	p.Asn114Ser	p.N114S	ENST00000531783	NM_001261828.1	114	aAt/aGt	0	1		UPI000013E636	0	NA	ENST00000300187		ENSG00000166928	30706		92	2.225		HGNC	p.N97S		MS4A14		SNV							ENST00000526375	protein_coding	getma.org/?cm=var&var=hg19,11,60170407,A,G&fts=all		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Transmembrane_helices:TMhelix		N/S		G	medium	618/2997		getma.org/?cm=msa&ty=f&p=M4A14_HUMAN&rb=44&re=221&var=N114S	deleterious(0.04)	F6X344_HUMAN				MS4A14,missense_variant,p.Asn114Ser,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Asn114Ser,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Asn97Ser,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Asn2Ser,ENST00000531787,;MS4A14,missense_variant,p.Asn2Ser,ENST00000395001,;MS4A14,missense_variant,p.Asn97Ser,ENST00000526375,;MS4A14,missense_variant,p.Asn73Ser,ENST00000534688,;MS4A14,missense_variant,p.Asn97Ser,ENST00000530662,;MS4A14,missense_variant,p.Asn97Ser,ENST00000527841,;MS4A14,missense_variant,p.Asn114Ser,ENST00000525397,;MS4A14,downstream_gene_variant,,ENST00000531949,;							MODERATE	341/2040	N114S	M4A14_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000300187		CCDS31569.1			1	
DNAH8	0	LGGM	GRCh37	6	38709630	38709630	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	22	30	.	.	ENST00000359357.3:c.609T>C	p.Asn203=	p.N203=	ENST00000359357		203	aaT/aaC	0	1	1	UPI00003677EB	0		ENST00000359357		ENSG00000124721	2952		52			HGNC	p.N203N		DNAH8		SNV							ENST00000441566	protein_coding			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		N		C		863/13860							YES	DNAH8,synonymous_variant,p.=,ENST00000327475,NM_001206927.1;DNAH8,synonymous_variant,p.=,ENST00000359357,;DNAH8,synonymous_variant,p.=,ENST00000441566,;DNAH8,synonymous_variant,p.=,ENST00000449981,;RN7SL465P,upstream_gene_variant,,ENST00000468411,;							LOW	609/13473		DYH8_HUMAN			Transcript			.	ENSP00000352312					1	
MAATS1	0	LGGM	GRCh37	3	119469819	119469819	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	38	31	.	.	ENST00000273390.5:c.2179C>T	p.His727Tyr	p.H727Y	ENST00000273390	NM_033364.3	727	Cat/Tat	0	1	1	UPI00001C1DFE	0	NA	ENST00000273390		ENSG00000183833	24010		69	2.19		HGNC	p.H727Y		MAATS1		SNV							ENST00000273390	protein_coding	getma.org/?cm=var&var=hg19,3,119469819,C,T&fts=all		hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455		H/Y		T	medium	2256/4433		getma.org/?cm=msa&ty=f&p=AAT1_HUMAN&rb=1&re=601&var=H563Y	deleterious(0)				YES	MAATS1,missense_variant,p.His727Tyr,ENST00000273390,NM_033364.3;RP11-169N13.4,upstream_gene_variant,,ENST00000489428,;MAATS1,non_coding_transcript_exon_variant,,ENST00000472117,;MAATS1,non_coding_transcript_exon_variant,,ENST00000475543,;MAATS1,non_coding_transcript_exon_variant,,ENST00000496010,;MAATS1,non_coding_transcript_exon_variant,,ENST00000470948,;MAATS1,non_coding_transcript_exon_variant,,ENST00000482995,;MAATS1,3_prime_UTR_variant,,ENST00000482573,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,3_prime_UTR_variant,,ENST00000475093,;							MODERATE	2179/2304	H563Y	MAAT1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000273390		CCDS2994.1			1	
CFH	0	LGGM	GRCh37	1	196709797	196709797	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	98	31	.	.	ENST00000367429.4:c.2831A>T	p.His944Leu	p.H944L	ENST00000367429	NM_000186.3	944	cAc/cTc	0	1	1	UPI000013C4D1	0	getma.org/pdb.php?prot=CFAH_HUMAN&from=931&to=984&var=H944L	ENST00000367429		ENSG00000000971	4883		129	-0.105		HGNC	p.H944L		CFH		SNV			1				ENST00000367429	protein_coding	getma.org/?cm=var&var=hg19,1,196709797,A,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,SMART_domains:SM00032,Superfamily_domains:SSF57535		H/L		T	neutral	3071/4127		getma.org/?cm=msa&ty=f&p=CFAH_HUMAN&rb=931&re=984&var=H944L	tolerated(0.37)				YES	CFH,missense_variant,p.His944Leu,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;CFH,non_coding_transcript_exon_variant,,ENST00000470918,;							MODERATE	2831/3696	H944L	CFAH_HUMAN			Transcript		benign(0.009)	.	ENSP00000356399		CCDS1385.1			1	
OR1K1	0	LGGM	GRCh37	9	125563189	125563189	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	23	32	.	.	ENST00000277309.2:c.788C>T	p.Ala263Val	p.A263V	ENST00000277309	NM_080859.1	263	gCc/gTc	0	1	1	UPI000004B1FE	0	NA	ENST00000277309		ENSG00000165204	8212		55	0		HGNC	p.A263V		OR1K1		SNV							ENST00000277309	protein_coding	getma.org/?cm=var&var=hg19,9,125563189,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,Superfamily_domains:SSF81321		A/V		T	neutral	820/1026		getma.org/?cm=msa&ty=f&p=OR1K1_HUMAN&rb=140&re=284&var=A263V	deleterious(0)				YES	OR1K1,missense_variant,p.Ala263Val,ENST00000277309,NM_080859.1;PDCL,intron_variant,,ENST00000436632,;							MODERATE	788/951	A263V	OR1K1_HUMAN			Transcript		benign(0.013)	.	ENSP00000277309		CCDS35132.1			1	
ZNF556	0	LGGM	GRCh37	19	2878164	2878164	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	49	34	.	.	ENST00000307635.2:c.1208T>A	p.Val403Glu	p.V403E	ENST00000307635	NM_024967.1	403	gTg/gAg	0	1	1	UPI000006DA0F	0	NA	ENST00000307635		ENSG00000172000	25669		83	0		HGNC	p.V402E		ZNF556		SNV							ENST00000586426	protein_coding	getma.org/?cm=var&var=hg19,19,2878164,T,A&fts=all		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF142		V/E		A	neutral	1295/1632		getma.org/?cm=msa&ty=f&p=ZN556_HUMAN&rb=393&re=424&var=V403E	deleterious(0)				YES	ZNF556,missense_variant,p.Val402Glu,ENST00000586426,;ZNF556,missense_variant,p.Val403Glu,ENST00000307635,NM_024967.1;ZNF556,downstream_gene_variant,,ENST00000586470,;AC006130.4,upstream_gene_variant,,ENST00000586202,;							MODERATE	1208/1371	V403E	ZN556_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000302603		CCDS12097.1			1	
ZNF674	0	LGGM	GRCh37	X	46359678	46359678	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	6	35	.	.	ENST00000523374.1:c.1346C>A	p.Ala449Asp	p.A449D	ENST00000523374	NM_001039891.2	449	gCc/gAc	0	1	1	UPI0000684253	0	getma.org/pdb.php?prot=ZN674_HUMAN&from=427&to=452&var=A449D	ENST00000523374		ENSG00000251192	17625		41	1.08		HGNC	p.A443D		ZNF674		SNV			1				ENST00000414387	protein_coding	getma.org/?cm=var&var=hg19,X,46359678,G,T&fts=all		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		A/D		T	low	1557/4073		getma.org/?cm=msa&ty=f&p=ZN674_HUMAN&rb=407&re=472&var=A449D	deleterious(0)				YES	ZNF674,missense_variant,p.Ala449Asp,ENST00000523374,NM_001039891.2,NM_001146291.1,NM_001190417.1;ZNF674,missense_variant,p.Ala443Asp,ENST00000414387,;KRBOX4,downstream_gene_variant,,ENST00000478600,;ZNF674,downstream_gene_variant,,ENST00000518795,;							MODERATE	1346/1746	A449D	ZN674_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000429148		CCDS48099.1			1	
DCK	0	LGGM	GRCh37	4	71891633	71891633	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	68	36	.	.	ENST00000286648.5:c.650T>A	p.Leu217Gln	p.L217Q	ENST00000286648	NM_000788.2	217	cTg/cAg	0	1	1	UPI0000128FC6	0	getma.org/pdb.php?prot=DCK_HUMAN&from=96&to=253&var=L217Q	ENST00000286648		ENSG00000156136	2704		104	-0.33		HGNC	p.L217Q		DCK		SNV							ENST00000286648	protein_coding	getma.org/?cm=var&var=hg19,4,71891633,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF01712,PIRSF_domain:PIRSF000705,hmmpanther:PTHR10513,hmmpanther:PTHR10513:SF19,Superfamily_domains:SSF52540		L/Q		A	neutral	1047/2716		getma.org/?cm=msa&ty=f&p=DCK_HUMAN&rb=96&re=253&var=L217Q	tolerated(0.44)	F5CTF3_HUMAN,B4E0A5_HUMAN			YES	DCK,missense_variant,p.Leu217Gln,ENST00000286648,NM_000788.2;DCK,missense_variant,p.Leu217Gln,ENST00000504952,;DCK,intron_variant,,ENST00000504730,;MOB1B,downstream_gene_variant,,ENST00000511449,;DCK,3_prime_UTR_variant,,ENST00000503359,;DCK,non_coding_transcript_exon_variant,,ENST00000509764,;							MODERATE	650/783	L217Q	DCK_HUMAN			Transcript		benign(0.003)	.	ENSP00000286648		CCDS3548.1			1	
DNAH10	0	LGGM	GRCh37	12	124325969	124325969	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	66	36	.	.	ENST00000409039.3:c.4883G>T	p.Arg1628Leu	p.R1628L	ENST00000409039	NM_207437.3	1628	cGg/cTg	0	1	1	UPI00014F7B89	0	getma.org/pdb.php?prot=DYH10_HUMAN&from=1252&to=1664&var=R1628L	ENST00000409039		ENSG00000197653	2941		102	1.925		HGNC	p.R111L		DNAH10		SNV							ENST00000497783	protein_coding	getma.org/?cm=var&var=hg19,12,124325969,G,T&fts=all		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		R/L		T	medium	4908/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=1252&re=1664&var=R1628L					YES	DNAH10,missense_variant,p.Arg1628Leu,ENST00000409039,NM_207437.3;DNAH10,missense_variant,p.Arg111Leu,ENST00000497783,;							MODERATE	4883/13416	R1628L	DYH10_HUMAN			Transcript		benign(0.234)	.	ENSP00000386770		CCDS9255.2			1	
RP11-830F9.6	0	LGGM	GRCh37	16	89016963	89016963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	198	36	.	.	ENST00000378347.2:c.437C>T	p.Pro146Leu	p.P146L	ENST00000378347		146	cCg/cTg	0	1	1	UPI00001C114F	0		ENST00000378347		ENSG00000205018			234			Clone_based_vega_gene	p.P146L		RP11-830F9.6		SNV							ENST00000378347	protein_coding					P/L		T		843/1812			tolerated_low_confidence(1)	Q6ZP14_HUMAN			YES	RP11-830F9.6,missense_variant,p.Pro146Leu,ENST00000378347,;CBFA2T3,intron_variant,,ENST00000268679,NM_005187.5;CBFA2T3,intron_variant,,ENST00000360302,;CBFA2T3,intron_variant,,ENST00000436887,;CBFA2T3,intron_variant,,ENST00000448839,;CBFA2T3,intron_variant,,ENST00000563640,;CBFA2T3,intron_variant,,ENST00000570046,;							MODERATE	437/1242					Transcript		possibly_damaging(0.856)	.	ENSP00000367598					1	
OR4A16	0	LGGM	GRCh37	11	55111224	55111224	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	53	37	.	.	ENST00000314721.2:c.548T>A	p.Leu183Ter	p.L183*	ENST00000314721	NM_001005274.1	183	tTg/tAg	0	1	1	UPI0000061EB2	0	NA	ENST00000314721		ENSG00000181961	15153		90	0		HGNC	p.L183X		OR4A16		SNV							ENST00000314721	protein_coding	getma.org/?cm=var&var=hg19,11,55111224,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF153,Superfamily_domains:SSF81321		L/*		A	NA	598/1081		NA					YES	OR4A16,stop_gained,p.Leu183Ter,ENST00000314721,NM_001005274.1;							HIGH	548/987	L183*	O4A16_HUMAN			Transcript			.	ENSP00000325128		CCDS31499.1			1	
CUL7	0	LGGM	GRCh37	6	43018052	43018052	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	32	37	.	.	ENST00000535468.1:c.1570A>G	p.Met524Val	p.M524V	ENST00000535468	NM_014780.4	524	Atg/Gtg	0	1		UPI000013D603	0	NA	ENST00000265348		ENSG00000044090	21024		69	-0.755		HGNC	p.M524V		CUL7		SNV			1				ENST00000535468	protein_coding	getma.org/?cm=var&var=hg19,6,43018052,T,C&fts=all		hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3		M/V		C	neutral	1404/5254		getma.org/?cm=msa&ty=f&p=CUL7_HUMAN&rb=436&re=635&var=M440V	tolerated(0.3)					CUL7,missense_variant,p.Met524Val,ENST00000535468,NM_014780.4,NM_001168370.1;CUL7,missense_variant,p.Met440Val,ENST00000265348,;MRPL2,downstream_gene_variant,,ENST00000388752,NM_015950.3;MRPL2,downstream_gene_variant,,ENST00000230413,;MRPL2,downstream_gene_variant,,ENST00000489623,;CUL7,upstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;MRPL2,downstream_gene_variant,,ENST00000485654,;							MODERATE	1318/5097	M440V	CUL7_HUMAN			Transcript		benign(0)	.	ENSP00000265348		CCDS4881.1			1	
F2RL1	0	LGGM	GRCh37	5	76128910	76128910	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	61	39	.	.	ENST00000296677.4:c.478T>A	p.Tyr160Asn	p.Y160N	ENST00000296677	NM_005242.4	160	Tac/Aac	0	1	1	UPI000013E36E	0	getma.org/pdb.php?prot=PAR2_HUMAN&from=92&to=344&var=Y160N	ENST00000296677		ENSG00000164251	3538		100	3.13		HGNC	p.Y66N		F2RL1		SNV							ENST00000514165	protein_coding	getma.org/?cm=var&var=hg19,5,76128910,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF21,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/N		A	medium	684/2914		getma.org/?cm=msa&ty=f&p=PAR2_HUMAN&rb=92&re=344&var=Y160N	deleterious(0)	D6RJH3_HUMAN			YES	F2RL1,missense_variant,p.Tyr160Asn,ENST00000296677,NM_005242.4;F2RL1,missense_variant,p.Tyr66Asn,ENST00000514165,;RN7SL208P,downstream_gene_variant,,ENST00000577964,;							MODERATE	478/1194	Y160N	PAR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296677		CCDS4033.1			1	
PNLIPRP1	0	LGGM	GRCh37	10	118351309	118351309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	46	40	.	.	ENST00000528052.1:c.76G>T	p.Gly26Trp	p.G26W	ENST00000528052		26	Ggg/Tgg	0	1		UPI000012E6AA	0	getma.org/pdb.php?prot=LIPR1_HUMAN&from=18&to=353&var=G26W	ENST00000358834		ENSG00000187021	9156		86	4.14		HGNC	p.G26W		PNLIPRP1		SNV							ENST00000471549	protein_coding	getma.org/?cm=var&var=hg19,10,118351309,G,T&fts=all		Prints_domain:PR00823,Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610		G/W		T	high	110/1497		getma.org/?cm=msa&ty=f&p=LIPR1_HUMAN&rb=18&re=353&var=G26W	deleterious(0)	E9PR20_HUMAN,E9PMA6_HUMAN				PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000528052,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000358834,NM_006229.2;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000534537,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000531984,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000530319,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000527980,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000471549,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000442761,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000480870,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525157,;PNLIPRP1,upstream_gene_variant,,ENST00000510125,;PNLIPRP1,missense_variant,p.Gly26Trp,ENST00000497792,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000482159,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000484402,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000529584,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000530626,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000470678,;PNLIPRP1,upstream_gene_variant,,ENST00000482833,;							MODERATE	76/1404	G26W	LIPR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351695		CCDS7595.1			1	
SAR1A	0	LGGM	GRCh37	10	71917517	71917517	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H072658	H072658N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	68	44	.	.	ENST00000373242.2:c.348+3A>G		p.X116_splice	ENST00000373242	NM_001142648.1			0	1		UPI0000000DB4	0		ENST00000373238		ENSG00000079332	10534		112			HGNC	p.V117V	rs772953379	SAR1A		SNV							ENST00000373236	protein_coding							C		-/3227				Q5SQT9_HUMAN,B4DQ19_HUMAN				SAR1A,splice_region_variant,,ENST00000373242,NM_001142648.1;SAR1A,splice_region_variant,,ENST00000373238,;SAR1A,splice_region_variant,,ENST00000373241,NM_020150.4;SAR1A,splice_region_variant,,ENST00000431664,;SAR1A,splice_region_variant,,ENST00000458634,;SAR1A,splice_region_variant,,ENST00000452767,;SAR1A,synonymous_variant,p.=,ENST00000373236,;SAR1A,downstream_gene_variant,,ENST00000373239,;SAR1A,downstream_gene_variant,,ENST00000477464,;							LOW	-/597		SAR1A_HUMAN			Transcript			.	ENSP00000362335		CCDS7298.1			1	
FAM90A1	0	LGGM	GRCh37	12	8375291	8375291	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	89	47	.	.	ENST00000538603.1:c.522T>C	p.Ser174=	p.S174=	ENST00000538603	NM_018088.3	174	tcT/tcC	0	1		UPI000013EC10	0		ENST00000307435		ENSG00000171847	25526		136			HGNC	p.S174S		FAM90A1		SNV							ENST00000307435	protein_coding			hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF8		S		G		907/2342								FAM90A1,synonymous_variant,p.=,ENST00000538603,NM_018088.3;FAM90A1,synonymous_variant,p.=,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;							LOW	522/1395		F90A1_HUMAN			Transcript			.	ENSP00000307798		CCDS31738.1			1	
CUL1	0	LGGM	GRCh37	7	148456441	148456441	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072658	H072658N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	30	51	.	.	ENST00000325222.4:c.529A>G	p.Lys177Glu	p.K177E	ENST00000325222	NM_003592.2	177	Aaa/Gaa	0	1	1	UPI00001286E6	0	getma.org/pdb.php?prot=CUL1_HUMAN&from=21&to=706&var=K177E	ENST00000325222		ENSG00000055130	2551		81	1.185		HGNC	p.K177E		CUL1		SNV							ENST00000325222	protein_coding	getma.org/?cm=var&var=hg19,7,148456441,A,G&fts=all		hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF19,Gene3D:1.20.1310.10,Pfam_domain:PF00888,Superfamily_domains:SSF74788		K/E		G	low	808/3064		getma.org/?cm=msa&ty=f&p=CUL1_HUMAN&rb=21&re=706&var=K177E	tolerated(0.58)	Q75MQ1_HUMAN,B3KU45_HUMAN,B3KTW0_HUMAN			YES	CUL1,missense_variant,p.Lys177Glu,ENST00000325222,NM_003592.2;CUL1,missense_variant,p.Lys177Glu,ENST00000602748,;CUL1,missense_variant,p.Lys177Glu,ENST00000409469,;							MODERATE	529/2331	K177E	CUL1_HUMAN			Transcript		benign(0.057)	.	ENSP00000326804		CCDS34772.1			1	
NPAP1	0	LGGM	GRCh37	15	24923284	24923284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	82	56	.	.	ENST00000329468.2:c.2270C>A	p.Ala757Asp	p.A757D	ENST00000329468	NM_018958.2	757	gCt/gAt	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		138	0.345		HGNC	p.A757D		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24923284,C,A&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		A/D		A	neutral	2744/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=A757D	tolerated(0.07)				YES	NPAP1,missense_variant,p.Ala757Asp,ENST00000329468,NM_018958.2;							MODERATE	2270/3471	A757D	NPAP1_HUMAN			Transcript		benign(0.023)	.	ENSP00000333735		CCDS10015.1			1	
MEP1B	0	LGGM	GRCh37	18	29772608	29772608	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	99	59	.	.	ENST00000269202.6:c.83-1G>C		p.X28_splice	ENST00000269202	NM_005925.2			0	1	1	UPI0000201B8B	0		ENST00000269202		ENSG00000141434	7020		158			HGNC	-		MEP1B		SNV							ENST00000269202	protein_coding							C		-/2312				J3KRK1_HUMAN			YES	MEP1B,splice_acceptor_variant,,ENST00000269202,NM_005925.2;MEP1B,splice_acceptor_variant,,ENST00000581447,;MEP1B,splice_acceptor_variant,,ENST00000581184,;GAREM,intron_variant,,ENST00000583696,;MEP1B,splice_acceptor_variant,,ENST00000579919,;RP11-53I6.5,downstream_gene_variant,,ENST00000580789,;							HIGH	83/2106		MEP1B_HUMAN			Transcript			.	ENSP00000269202		CCDS45846.1			1	
RBM25	0	LGGM	GRCh37	14	73572763	73572763	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072658	H072658N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	109	65	.	.	ENST00000261973.7:c.1351C>A	p.Arg451=	p.R451=	ENST00000261973	NM_021239.2	451	Cga/Aga	0	1	1	UPI0000373D58	0		ENST00000261973		ENSG00000119707	23244		174			HGNC	p.R451R		RBM25		SNV							ENST00000261973	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18806,Low_complexity_(Seg):seg		R		A		1636/4426				Q16083_HUMAN,E9PSE8_HUMAN,E9PQU5_HUMAN			YES	RBM25,synonymous_variant,p.=,ENST00000261973,NM_021239.2;RBM25,synonymous_variant,p.=,ENST00000527432,;RBM25,downstream_gene_variant,,ENST00000525321,;RBM25,downstream_gene_variant,,ENST00000526754,;RBM25,upstream_gene_variant,,ENST00000532483,;RBM25,3_prime_UTR_variant,,ENST00000528081,;RBM25,non_coding_transcript_exon_variant,,ENST00000532683,;RBM25,upstream_gene_variant,,ENST00000527449,;RBM25,upstream_gene_variant,,ENST00000530978,;							LOW	1351/2532		RBM25_HUMAN			Transcript			.	ENSP00000261973		CCDS32113.1			1	
CENPF	0	LGGM	GRCh37	1	214787106	214787106	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072658	H072658N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072658N.bam, H072658T.bam	Illumina HiSeq	51	79	.	.	ENST00000366955.3:c.9G>T	p.Trp3Cys	p.W3C	ENST00000366955	NM_016343.3	3	tgG/tgT	0	1	1	UPI00001AE985	0		ENST00000366955		ENSG00000117724	1857		130			HGNC	p.W3C		CENPF		SNV							ENST00000366955	protein_coding			Pfam_domain:PF10481,hmmpanther:PTHR18874		W/C		T		177/10307							YES	CENPF,missense_variant,p.Trp3Cys,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,;							MODERATE	Sep-45		CENPF_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355922		CCDS31023.1			1	
GOLGA3	0	LGGM	GRCh37	12	133374924	133374924	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	28	2	.	.	ENST00000204726.3:c.1938+2T>A		p.X646_splice	ENST00000204726	NM_005895.3			0	1	1	UPI0000190979	0		ENST00000204726		ENSG00000090615	4426		30			HGNC	-		GOLGA3		SNV							ENST00000204726	protein_coding							T		-/9252							YES	GOLGA3,splice_donor_variant,,ENST00000204726,NM_005895.3;GOLGA3,splice_donor_variant,,ENST00000450791,;GOLGA3,splice_donor_variant,,ENST00000456883,;GOLGA3,splice_donor_variant,,ENST00000545875,NM_001172557.1;GOLGA3,splice_donor_variant,,ENST00000537452,;							HIGH	1938/4497		GOGA3_HUMAN			Transcript			.	ENSP00000204726		CCDS9281.1			1	
GTPBP8	0	LGGM	GRCh37	3	112715776	112715776	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	13	2	.	.	ENST00000383678.2:c.604G>T	p.Gly202Ter	p.G202*	ENST00000383678	NM_014170.2	202	Gga/Tga	0	1	1	UPI00000732BA	0	NA	ENST00000383678		ENSG00000163607	25007		15	0		HGNC	p.G202X		GTPBP8		SNV							ENST00000383678	protein_coding	getma.org/?cm=var&var=hg19,3,112715776,G,T&fts=all		Gene3D:3.40.50.300,HAMAP:MF_00321,Pfam_domain:PF01926,PROSITE_profiles:PS51706,hmmpanther:PTHR11649,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR03598		G/*		T	NA	686/1360		NA		C9J0K3_HUMAN			YES	GTPBP8,stop_gained,p.Gly169Ter,ENST00000383677,NM_138485.1;GTPBP8,stop_gained,p.Gly52Ter,ENST00000473129,;GTPBP8,stop_gained,p.Gly202Ter,ENST00000383678,NM_014170.2;GTPBP8,stop_gained,p.Gly91Ter,ENST00000467752,;GTPBP8,stop_gained,p.Gly169Ter,ENST00000485330,;GTPBP8,3_prime_UTR_variant,,ENST00000488781,;GTPBP8,3_prime_UTR_variant,,ENST00000295864,;							HIGH	604/855	G202*	GTPB8_HUMAN			Transcript			.	ENSP00000373176		CCDS33820.1			1	
CORO7	0	LGGM	GRCh37	16	4438570	4438570	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	10	2	.	.	ENST00000251166.4:c.678C>A	p.His226Gln	p.H226Q	ENST00000251166	NM_024535.4	226	caC/caA	0	1	1	UPI00001FF898	0	getma.org/pdb.php?prot=CORO7_HUMAN&from=197&to=250&var=H226Q	ENST00000251166		ENSG00000262246	26161		12	2.015		HGNC	p.T206N		CORO7		SNV							ENST00000571756	protein_coding	getma.org/?cm=var&var=hg19,16,4438570,G,T&fts=all		hmmpanther:PTHR10856:SF20,hmmpanther:PTHR10856,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		H/Q		T	medium	824/3540		getma.org/?cm=msa&ty=f&p=CORO7_HUMAN&rb=197&re=250&var=H226Q	tolerated(0.21)	I3L258_HUMAN,B3KSY4_HUMAN			YES	CORO7,missense_variant,p.His226Gln,ENST00000251166,NM_024535.4;CORO7,missense_variant,p.His6Gln,ENST00000539968,;CORO7,missense_variant,p.His208Gln,ENST00000537233,NM_001201472.1;CORO7-PAM16,missense_variant,p.His226Gln,ENST00000572467,NM_001201479.1;CORO7,missense_variant,p.His141Gln,ENST00000574025,NM_001201473.1;CORO7,missense_variant,p.His58Gln,ENST00000423908,;CORO7,missense_variant,p.His71Gln,ENST00000572549,;CORO7,missense_variant,p.His130Gln,ENST00000571059,;CORO7,missense_variant,p.His58Gln,ENST00000572044,;CORO7,downstream_gene_variant,,ENST00000575038,;CORO7,downstream_gene_variant,,ENST00000571052,;CORO7,downstream_gene_variant,,ENST00000570645,;CORO7-PAM16,missense_variant,p.His226Gln,ENST00000575334,;CORO7,missense_variant,p.Thr206Asn,ENST00000571756,;CORO7,missense_variant,p.His58Gln,ENST00000574311,;CORO7,3_prime_UTR_variant,,ENST00000571227,;CORO7,non_coding_transcript_exon_variant,,ENST00000575714,;CORO7,non_coding_transcript_exon_variant,,ENST00000573245,;CORO7,intron_variant,,ENST00000576437,;							MODERATE	678/2778	H226Q	CORO7_HUMAN			Transcript		benign(0.007)	.	ENSP00000251166		CCDS10513.1			1	
GOLGB1	0	LGGM	GRCh37	3	121409521	121409521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	4	2	.	.	ENST00000393667.3:c.8690G>T	p.Arg2897Ile	p.R2897I	ENST00000393667	NM_001256486.1	2897	aGa/aTa	0	1		UPI000013F0A1	0	NA	ENST00000340645		ENSG00000173230	4429		6	0.975		HGNC	p.R2897I		GOLGB1		SNV							ENST00000393667	protein_coding	getma.org/?cm=var&var=hg19,3,121409521,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887		R/I		A	low	8801/11187		getma.org/?cm=msa&ty=f&p=GOGB1_HUMAN&rb=2806&re=3257&var=R2892I		C9J8Q0_HUMAN				GOLGB1,missense_variant,p.Arg2897Ile,ENST00000393667,NM_001256486.1;GOLGB1,missense_variant,p.Arg2892Ile,ENST00000340645,NM_001256487.1,NM_004487.4,NM_001256488.1;GOLGB1,downstream_gene_variant,,ENST00000494517,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;							MODERATE	8675/9780	R2892I	GOGB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341848		CCDS3004.1			1	
GALNT9	0	LGGM	GRCh37	12	132824481	132824481	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	6	2	.	.	ENST00000328957.8:c.1059C>T	p.Asn353=	p.N353=	ENST00000328957	NM_001122636.1	353	aaC/aaT	0	1	1	UPI00004566BE	0		ENST00000328957		ENSG00000182870	4131		8			HGNC	p.N30N		GALNT9		SNV							ENST00000535228	protein_coding			Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF28,Superfamily_domains:SSF53448		N		A		1059/2410				J3KNN1_HUMAN,F5H557_HUMAN,F5H317_HUMAN,B3KP58_HUMAN				GALNT9,synonymous_variant,p.=,ENST00000328957,NM_001122636.1;GALNT9,synonymous_variant,p.=,ENST00000411988,;GALNT9,synonymous_variant,p.=,ENST00000535228,;GALNT9,non_coding_transcript_exon_variant,,ENST00000424720,;							LOW	1059/1812					Transcript			.	ENSP00000329846					1	
FOXR1	0	LGGM	GRCh37	11	118851296	118851296	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	39	3	.	.	ENST00000317011.3:c.708C>A	p.Val236=	p.V236=	ENST00000317011	NM_181721.2	236	gtC/gtA	0	1	1	UPI0000192103	0		ENST00000317011		ENSG00000176302	29980		42			HGNC	p.V236V		FOXR1		SNV							ENST00000317011	protein_coding			PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF152,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785		V		A		933/1159							YES	FOXR1,synonymous_variant,p.=,ENST00000317011,NM_181721.2;FOXR1,downstream_gene_variant,,ENST00000533282,;FOXR1,3_prime_UTR_variant,,ENST00000531539,;							LOW	708/879		FOXR1_HUMAN			Transcript			.	ENSP00000314806		CCDS31688.1			1	
PRKCG	0	LGGM	GRCh37	19	54403553	54403553	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	16	3	.	.	ENST00000263431.3:c.1348G>T	p.Gly450Cys	p.G450C	ENST00000263431	NM_002739.3	450	Ggc/Tgc	0	1	1	UPI000000DC69	0	getma.org/pdb.php?prot=KPCG_HUMAN&from=351&to=604&var=G450C	ENST00000263431		ENSG00000126583	9402		19	3.02		HGNC	p.G337C	COSM1000930,COSM369989	PRKCG		SNV			1			1,1	ENST00000542049	protein_coding	getma.org/?cm=var&var=hg19,19,54403553,G,T&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011		G/C		T	medium	1630/3133		getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=351&re=604&var=G450C	deleterious(0.04)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN			YES	PRKCG,missense_variant,p.Gly450Cys,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Gly450Cys,ENST00000540413,;PRKCG,missense_variant,p.Gly337Cys,ENST00000542049,;PRKCG,downstream_gene_variant,,ENST00000536044,;					1,1		MODERATE	1348/2094	G450C	KPCG_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000263431		CCDS12867.1			1	
AASS	0	LGGM	GRCh37	7	121753240	121753240	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	47	3	.	.	ENST00000393376.1:c.1210C>T	p.Pro404Ser	p.P404S	ENST00000393376		404	Ccg/Tcg	0	1	1	UPI000004A105	0	NA	ENST00000393376		ENSG00000008311	17366		50	3.35		HGNC	p.P404S		AASS		SNV			1				ENST00000358954	protein_coding	getma.org/?cm=var&var=hg19,7,121753240,G,A&fts=all		hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11		P/S		A	medium	1306/3233		getma.org/?cm=msa&ty=f&p=AASS_HUMAN&rb=400&re=482&var=P404S	deleterious(0)	A4D0W4_HUMAN			YES	AASS,missense_variant,p.Pro404Ser,ENST00000393376,;AASS,missense_variant,p.Pro404Ser,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,missense_variant,p.Pro404Ser,ENST00000358954,;AASS,missense_variant,p.Pro404Ser,ENST00000431170,;							MODERATE	1210/2781	P404S	AASS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377040		CCDS5783.1			1	
ZFYVE16	0	LGGM	GRCh37	5	79733494	79733494	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	43	3	.	.	ENST00000338008.5:c.990C>A	p.Ser330=	p.S330=	ENST00000338008	NM_014733.3	330	tcC/tcA	0	1	1	UPI000013F4A0	0		ENST00000338008		ENSG00000039319	20756		46			HGNC	p.S330S		ZFYVE16		SNV							ENST00000510158	protein_coding			PIRSF_domain:PIRSF037289,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43		S		A		1170/6773				B3KXA7_HUMAN			YES	ZFYVE16,synonymous_variant,p.=,ENST00000338008,NM_014733.3,NM_001284236.1;ZFYVE16,synonymous_variant,p.=,ENST00000510158,NM_001105251.1;ZFYVE16,synonymous_variant,p.=,ENST00000505560,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;							LOW	990/4620		ZFY16_HUMAN			Transcript			.	ENSP00000337159		CCDS4050.1			1	
FOS	0	LGGM	GRCh37	14	75748016	75748016	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	44	3	.	.	ENST00000303562.4:c.1032C>A	p.Thr344=	p.T344=	ENST00000303562	NM_005252.3	344	acC/acA	0	1	1	UPI000000D8F5	0		ENST00000303562		ENSG00000170345	3796		47			HGNC	p.T196T		FOS		SNV			1				ENST00000555347	protein_coding			hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF4		T		A		1241/2158				Q76MZ0_HUMAN,Q76MY9_HUMAN,Q6FG41_HUMAN,G3V2V7_HUMAN,A8K4E2_HUMAN			YES	FOS,synonymous_variant,p.=,ENST00000303562,NM_005252.3;FOS,synonymous_variant,p.=,ENST00000555686,;FOS,synonymous_variant,p.=,ENST00000535987,;FOS,synonymous_variant,p.=,ENST00000555347,;FOS,downstream_gene_variant,,ENST00000555672,;FOS,downstream_gene_variant,,ENST00000554617,;FOS,downstream_gene_variant,,ENST00000555242,;FOS,downstream_gene_variant,,ENST00000554212,;FOS,downstream_gene_variant,,ENST00000557139,;FOS,downstream_gene_variant,,ENST00000556324,;							LOW	1032/1143		FOS_HUMAN			Transcript			.	ENSP00000306245		CCDS9841.1			1	
PRKCG	0	LGGM	GRCh37	19	54403552	54403552	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	17	3	.	.	ENST00000263431.3:c.1347G>T	p.Leu449=	p.L449=	ENST00000263431	NM_002739.3	449	ctG/ctT	0	1	1	UPI000000DC69	0		ENST00000263431		ENSG00000126583	9402		20			HGNC	p.L336L		PRKCG		SNV			1				ENST00000542049	protein_coding			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011		L		T		1629/3133				M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN			YES	PRKCG,synonymous_variant,p.=,ENST00000263431,NM_002739.3;PRKCG,synonymous_variant,p.=,ENST00000540413,;PRKCG,synonymous_variant,p.=,ENST00000542049,;PRKCG,downstream_gene_variant,,ENST00000536044,;							LOW	1347/2094		KPCG_HUMAN			Transcript			.	ENSP00000263431		CCDS12867.1			1	
DNAJB1	0	LGGM	GRCh37	19	14629074	14629074	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	3	3	.	.	ENST00000254322.2:c.88C>A	p.Arg30Ser	p.R30S	ENST00000254322	NM_006145.1	30	Cgc/Agc	0	1	1	UPI0000000C3A	0	getma.org/pdb.php?prot=DNJB1_HUMAN&from=4&to=65&var=R30S	ENST00000254322		ENSG00000132002	5270		6	1.94		HGNC	p.R30S		DNAJB1		SNV			1				ENST00000254322	protein_coding	getma.org/?cm=var&var=hg19,19,14629074,G,T&fts=all		Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF207,SMART_domains:SM00271,Superfamily_domains:SSF46565		R/S		T	medium	159/2264		getma.org/?cm=msa&ty=f&p=DNJB1_HUMAN&rb=4&re=65&var=R30S	deleterious(0.02)	Q6FHS4_HUMAN,M0R1D6_HUMAN,M0R128_HUMAN,M0R080_HUMAN,M0QZD0_HUMAN,M0QYT3_HUMAN,B4DX52_HUMAN			YES	DNAJB1,missense_variant,p.Arg30Ser,ENST00000254322,NM_006145.1;DNAJB1,5_prime_UTR_variant,,ENST00000596075,;DNAJB1,intron_variant,,ENST00000396969,;DNAJB1,intron_variant,,ENST00000594099,;DNAJB1,intron_variant,,ENST00000595992,;DNAJB1,intron_variant,,ENST00000596853,;DNAJB1,intron_variant,,ENST00000601533,;DNAJB1,intron_variant,,ENST00000598692,;DNAJB1,upstream_gene_variant,,ENST00000598235,;DNAJB1,upstream_gene_variant,,ENST00000595139,;TECR,intron_variant,,ENST00000600076,;							MODERATE	88/1023	R30S	DNJB1_HUMAN			Transcript		benign(0.44)	.	ENSP00000254322		CCDS12312.1			1	
PHF2	0	LGGM	GRCh37	9	96422785	96422785	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	5	3	.	.	ENST00000359246.4:c.1641G>T	p.Leu547=	p.L547=	ENST00000359246	NM_005392.3	547	ctG/ctT	0	1	1	UPI0000211A97	0		ENST00000359246		ENSG00000197724	8920		8			HGNC	p.L547L		PHF2		SNV							ENST00000359246	protein_coding			hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14		L		T		2008/5565							YES	PHF2,synonymous_variant,p.=,ENST00000359246,NM_005392.3;PHF2,intron_variant,,ENST00000375376,;							LOW	1641/3291		PHF2_HUMAN			Transcript			.	ENSP00000352185		CCDS35069.1			1	
ITGA7	0	LGGM	GRCh37	12	56093730	56093730	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	8	4	.	.	ENST00000553804.1:c.802+316G>T		*268*	ENST00000553804	NM_001144996.1			0	1		UPI000013CF94	0	getma.org/pdb.php?prot=B3KMS6_HUMAN&from=1&to=161&var=Q80H	ENST00000555728		ENSG00000135424	6143		12	1.04		HGNC	p.Q282H		ITGA7		SNV			1				ENST00000257880	protein_coding	getma.org/?cm=var&var=hg19,12,56093730,C,A&fts=all		hmmpanther:PTHR23220:SF72,hmmpanther:PTHR23220,Superfamily_domains:SSF69318		Q/H		A	low	875/3930		getma.org/?cm=msa&ty=f&p=B3KMS6_HUMAN&rb=1&re=161&var=Q80H	deleterious(0.01)					ITGA7,missense_variant,p.Gln282His,ENST00000257880,;ITGA7,missense_variant,p.Gln238His,ENST00000394229,;ITGA7,missense_variant,p.Gln238His,ENST00000257879,NM_002206.2;ITGA7,missense_variant,p.Gln238His,ENST00000347027,;ITGA7,missense_variant,p.Gln282His,ENST00000555728,;ITGA7,missense_variant,p.Gln80His,ENST00000557257,;ITGA7,intron_variant,,ENST00000394230,;ITGA7,intron_variant,,ENST00000553804,NM_001144996.1;ITGA7,intron_variant,,ENST00000452168,NM_001144997.1;ITGA7,non_coding_transcript_exon_variant,,ENST00000553276,;ITGA7,non_coding_transcript_exon_variant,,ENST00000554543,;ITGA7,intron_variant,,ENST00000556273,;ITGA7,upstream_gene_variant,,ENST00000554327,;ITGA7,upstream_gene_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000554359,;ITGA7,downstream_gene_variant,,ENST00000555687,;ITGA7,downstream_gene_variant,,ENST00000553737,;ITGA7,downstream_gene_variant,,ENST00000555809,;ITGA7,downstream_gene_variant,,ENST00000553893,;ITGA7,downstream_gene_variant,,ENST00000554724,;ITGA7,downstream_gene_variant,,ENST00000556371,;ITGA7,upstream_gene_variant,,ENST00000557488,;							MODERATE	846/3546	Q80H	ITA7_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000452387					1	
KCNE4	0	LGGM	GRCh37	2	223917980	223917980	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	14	4	.	.	ENST00000604125.1:c.432C>G	p.Asp144Glu	p.D144E	ENST00000604125		144	gaC/gaG	0	1		UPI00002096C1	0	NA	ENST00000281830		ENSG00000152049	6244		18	0.695		HGNC	p.D144E		KCNE4		SNV							ENST00000281830	protein_coding	getma.org/?cm=var&var=hg19,2,223917980,C,G&fts=all		hmmpanther:PTHR20918,hmmpanther:PTHR20918:SF0		D/E		G	neutral	916/3291		getma.org/?cm=msa&ty=f&p=KCNE4_HUMAN&rb=106&re=170&var=D144E	tolerated(0.11)	Q2N1I0_HUMAN,A5H1P5_HUMAN				KCNE4,missense_variant,p.Asp195Glu,ENST00000281830,NM_080671.3;KCNE4,missense_variant,p.Asp144Glu,ENST00000604125,;KCNE4,intron_variant,,ENST00000488477,;							MODERATE	585/666	D144E				Transcript		probably_damaging(0.998)	.	ENSP00000281830		CCDS2456.2			1	
DLGAP1	0	LGGM	GRCh37	18	3880020	3880020	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	8	4	.	.	ENST00000315677.3:c.49G>C	p.Asp17His	p.D17H	ENST00000315677	NM_004746.3	17	Gac/Cac	0	1	1	UPI0000129490	0	NA	ENST00000315677		ENSG00000170579	2905		12	2.42		HGNC	p.D17H		DLGAP1		SNV							ENST00000315677	protein_coding	getma.org/?cm=var&var=hg19,18,3880020,C,G&fts=all		hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353		D/H		G	medium	645/6683		getma.org/?cm=msa&ty=f&p=DLGP1_HUMAN&rb=1&re=200&var=D17H	deleterious(0)				YES	DLGAP1,missense_variant,p.Asp17His,ENST00000315677,NM_004746.3;DLGAP1,missense_variant,p.Asp17His,ENST00000581527,NM_001242761.1;DLGAP1,missense_variant,p.Asp17His,ENST00000584874,;DLGAP1,missense_variant,p.Asp17His,ENST00000515196,;DLGAP1-AS3,intron_variant,,ENST00000577649,;DLGAP1,non_coding_transcript_exon_variant,,ENST00000498188,;							MODERATE	49/2934	D17H	DLGP1_HUMAN			Transcript		possibly_damaging(0.762)	.	ENSP00000316377		CCDS11836.1			1	
XPO4	0	LGGM	GRCh37	13	21476821	21476821	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	1	4	.	.	ENST00000255305.6:c.57T>G	p.Ala19=	p.A19=	ENST00000255305		19	gcT/gcG	0	1	1	UPI0000139018	0		ENST00000255305		ENSG00000132953	17796		5			HGNC	p.A19A		XPO4		SNV							ENST00000255305	protein_coding			hmmpanther:PTHR12596:SF1,hmmpanther:PTHR12596,Superfamily_domains:SSF48371		A		C		129/8375				Q8IVQ8_HUMAN,Q0VG75_HUMAN			YES	XPO4,synonymous_variant,p.=,ENST00000400602,NM_022459.4;XPO4,synonymous_variant,p.=,ENST00000255305,;XPO4,non_coding_transcript_exon_variant,,ENST00000490513,;XPO4,non_coding_transcript_exon_variant,,ENST00000465018,;							LOW	57/3456		XPO4_HUMAN			Transcript			.	ENSP00000255305		CCDS41872.1			1	
KIAA1217	0	LGGM	GRCh37	10	24833234	24833234	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	74	4	.	.	ENST00000376454.3:c.5035A>G	p.Thr1679Ala	p.T1679A	ENST00000376454	NM_019590.3	1679	Aca/Gca	0	1	1	UPI000013EC2A	0	NA	ENST00000376454		ENSG00000120549	25428		78	1.905		HGNC	p.T1362A		KIAA1217		SNV							ENST00000376451	protein_coding	getma.org/?cm=var&var=hg19,10,24833234,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4		T/A		G	medium	5065/7381		getma.org/?cm=msa&ty=f&p=SKT_HUMAN&rb=1&re=1941&var=T1679A	deleterious(0)				YES	KIAA1217,missense_variant,p.Thr1362Ala,ENST00000376451,;KIAA1217,missense_variant,p.Thr1679Ala,ENST00000376454,NM_019590.3;KIAA1217,intron_variant,,ENST00000376462,NM_001098500.1;KIAA1217,intron_variant,,ENST00000458595,NM_001098501.1,NM_001282768.1;KIAA1217,intron_variant,,ENST00000396445,;KIAA1217,intron_variant,,ENST00000376452,NM_001282767.1;KIAA1217,intron_variant,,ENST00000307544,NM_001282769.1;KIAA1217,intron_variant,,ENST00000396446,NM_001282770.1;KIAA1217,downstream_gene_variant,,ENST00000492009,;							MODERATE	5035/5832	T1679A	SKT_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000365637		CCDS31165.1			1	
CLUAP1	0	LGGM	GRCh37	16	3580570	3580570	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	14	5	.	.	ENST00000576634.1:c.931A>G	p.Asn311Asp	p.N311D	ENST00000576634	NM_015041.2	311	Aac/Gac	0	1	1	UPI00001FF865	0	NA	ENST00000576634		ENSG00000103351	19009		19	1.23		HGNC	p.N311D		CLUAP1		SNV							ENST00000576634	protein_coding	getma.org/?cm=var&var=hg19,16,3580570,A,G&fts=all		hmmpanther:PTHR21547,hmmpanther:PTHR21547:SF0		N/D		G	low	1075/4163		getma.org/?cm=msa&ty=f&p=CLUA1_HUMAN&rb=286&re=413&var=N311D	tolerated(0.49)	I3L487_HUMAN,I3L121_HUMAN			YES	CLUAP1,missense_variant,p.Asn311Asp,ENST00000571025,;CLUAP1,missense_variant,p.Asn311Asp,ENST00000576634,NM_015041.2;CLUAP1,missense_variant,p.Asn145Asp,ENST00000572600,NM_024793.2;CLUAP1,missense_variant,p.Asn311Asp,ENST00000341633,;CLUAP1,missense_variant,p.Asn145Asp,ENST00000417763,;CLUAP1,missense_variant,p.Asn70Asp,ENST00000445795,;CLUAP1,missense_variant,p.Asn145Asp,ENST00000574551,;CLUAP1,splice_region_variant,,ENST00000575134,;CLUAP1,splice_region_variant,,ENST00000572632,;CLUAP1,non_coding_transcript_exon_variant,,ENST00000575323,;							MODERATE	931/1242	N311D	CLUA1_HUMAN			Transcript		benign(0.007)	.	ENSP00000460850		CCDS32381.1			1	
PRKCG	0	LGGM	GRCh37	19	54403528	54403528	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	19	5	.	.	ENST00000263431.3:c.1323C>G	p.Asp441Glu	p.D441E	ENST00000263431	NM_002739.3	441	gaC/gaG	0	1	1	UPI000000DC69	0	getma.org/pdb.php?prot=KPCG_HUMAN&from=351&to=604&var=D441E	ENST00000263431		ENSG00000126583	9402		24	0.74		HGNC	p.D328E		PRKCG		SNV			1				ENST00000542049	protein_coding	getma.org/?cm=var&var=hg19,19,54403528,C,G&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50011		D/E		G	neutral	1605/3133		getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=351&re=604&var=D441E	deleterious(0)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN			YES	PRKCG,missense_variant,p.Asp441Glu,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Asp441Glu,ENST00000540413,;PRKCG,missense_variant,p.Asp328Glu,ENST00000542049,;PRKCG,downstream_gene_variant,,ENST00000536044,;							MODERATE	1323/2094	D441E	KPCG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263431		CCDS12867.1			1	
NEGR1	0	LGGM	GRCh37	1	72241941	72241941	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	12	5	.	.	ENST00000357731.5:c.449T>C	p.Val150Ala	p.V150A	ENST00000357731	NM_173808.2	150	gTc/gCc	0	1	1	UPI00000477EE	0	getma.org/pdb.php?prot=NEGR1_HUMAN&from=139&to=221&var=V150A	ENST00000357731		ENSG00000172260	17302		17	1.7		HGNC	p.V148A		NEGR1		SNV							ENST00000434200	protein_coding	getma.org/?cm=var&var=hg19,1,72241941,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF11,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/A		G	low	689/12811		getma.org/?cm=msa&ty=f&p=NEGR1_HUMAN&rb=139&re=221&var=V150A	deleterious(0.01)	Q8N440_HUMAN,Q68DZ8_HUMAN			YES	NEGR1,missense_variant,p.Val150Ala,ENST00000357731,NM_173808.2;NEGR1,missense_variant,p.Val22Ala,ENST00000306821,;NEGR1,missense_variant,p.Val148Ala,ENST00000434200,;NEGR1,non_coding_transcript_exon_variant,,ENST00000467479,;							MODERATE	449/1065	V150A	NEGR1_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000350364		CCDS661.1			1	
PRAG1	0	LGGM	GRCh37	8	8176076	8176076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	10	5	.	.	ENST00000520004.1:c.3809G>T	p.Arg1270Leu	p.R1270L	ENST00000520004		1270	cGc/cTc	0	1	1	UPI00001D82A6	0	getma.org/pdb.php?prot=SG223_HUMAN&from=1078&to=1321&var=R1270L	ENST00000520004		ENSG00000182319			15	1.4		Uniprot_gn	p.R1270L		SGK223		SNV							ENST00000330777	protein_coding	getma.org/?cm=var&var=hg19,8,8176076,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		A	low	4074/4891		getma.org/?cm=msa&ty=f&p=SG223_HUMAN&rb=1078&re=1321&var=R1270L					YES	SGK223,missense_variant,p.Arg1270Leu,ENST00000520004,;SGK223,missense_variant,p.Arg1270Leu,ENST00000330777,NM_001080826.1;							MODERATE	3809/4209	R1270L	SG223_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000428054		CCDS43706.1			1	
PRAG1	0	LGGM	GRCh37	8	8176078	8176078	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	10	5	.	.	ENST00000520004.1:c.3807G>C	p.Val1269=	p.V1269=	ENST00000520004		1269	gtG/gtC	0	1	1	UPI00001D82A6	0		ENST00000520004		ENSG00000182319			15			Uniprot_gn	p.V1269V		SGK223		SNV							ENST00000330777	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		V		G		4072/4891							YES	SGK223,synonymous_variant,p.=,ENST00000520004,;SGK223,synonymous_variant,p.=,ENST00000330777,NM_001080826.1;							LOW	3807/4209		SG223_HUMAN			Transcript			.	ENSP00000428054		CCDS43706.1			1	
ANK2	0	LGGM	GRCh37	4	114279049	114279049	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	23	6	.	.	ENST00000357077.4:c.9275G>A	p.Gly3092Glu	p.G3092E	ENST00000357077	NM_001148.4	3092	gGg/gAg	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		29	2.175		HGNC	p.G102E		ANK2		SNV			1				ENST00000505342	protein_coding	getma.org/?cm=var&var=hg19,4,114279049,G,A&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		G/E		A	medium	9328/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1998&re=3536&var=G3092E		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Gly3092Glu,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Gly3059Glu,ENST00000264366,;ANK2,missense_variant,p.Gly102Glu,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,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;							MODERATE	9275/11874	G3092E	ANK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349588		CCDS3702.1			1	
THRSP	0	LGGM	GRCh37	11	77775203	77775203	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	22	6	.	.	ENST00000281030.2:c.276C>T	p.Thr92=	p.T92=	ENST00000281030	NM_003251.3	92	acC/acT	0	1	1	UPI00000015FF	0		ENST00000281030		ENSG00000151365	11800		28			HGNC	p.T92T		THRSP		SNV							ENST00000281030	protein_coding			Pfam_domain:PF07084,hmmpanther:PTHR14315,hmmpanther:PTHR14315:SF13,Low_complexity_(Seg):seg		T		T		297/1174							YES	THRSP,synonymous_variant,p.=,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;							LOW	276/441		THRSP_HUMAN			Transcript			.	ENSP00000281030		CCDS8256.1			1	
CACNA1I	0	LGGM	GRCh37	22	40043866	40043866	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	13	6	.	.	ENST00000402142.3:c.1502T>C	p.Leu501Pro	p.L501P	ENST00000402142	NM_021096.3	501	cTc/cCc	0	1	1	UPI000012727D	0	NA	ENST00000402142		ENSG00000100346	1396		19	-1.07		HGNC	p.L501P		CACNA1I		SNV							ENST00000402142	protein_coding	getma.org/?cm=var&var=hg19,22,40043866,T,C&fts=all		hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037		L/P		C	neutral	1502/10004		getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=398&re=597&var=L501P	tolerated(0.24)				YES	CACNA1I,missense_variant,p.Leu501Pro,ENST00000336649,;CACNA1I,missense_variant,p.Leu501Pro,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Leu501Pro,ENST00000401624,;CACNA1I,intron_variant,,ENST00000400164,;CACNA1I,intron_variant,,ENST00000404898,NM_001003406.1;CACNA1I,intron_variant,,ENST00000407673,;CACNA1I,downstream_gene_variant,,ENST00000471970,;							MODERATE	1502/6672	L501P	CAC1I_HUMAN			Transcript		unknown(0)	.	ENSP00000385019		CCDS46710.1			1	
CYP3A43	0	LGGM	GRCh37	7	99459284	99459284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	11	6	.	.	ENST00000222382.5:c.1075G>A	p.Val359Met	p.V359M	ENST00000222382		359	Gtg/Atg	0	1		UPI0000126C0D	0	getma.org/pdb.php?prot=CP343_HUMAN&from=38&to=493&var=V359M	ENST00000354829		ENSG00000021461	17450		17	4.57		HGNC	p.V359M		CYP3A43		SNV							ENST00000354829	protein_coding	getma.org/?cm=var&var=hg19,7,99459284,G,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00385,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF6,Superfamily_domains:SSF48264		V/M		A	high	1178/1709		getma.org/?cm=msa&ty=f&p=CP343_HUMAN&rb=38&re=493&var=V359M	deleterious(0)	Q75MK3_HUMAN,Q7Z2G5_HUMAN				CYP3A43,missense_variant,p.Val359Met,ENST00000354829,NM_057095.2,NM_022820.4,NM_057096.3;CYP3A43,missense_variant,p.Val359Met,ENST00000222382,;CYP3A43,missense_variant,p.Val359Met,ENST00000312017,;CYP3A43,missense_variant,p.Val219Met,ENST00000342499,;CYP3A43,missense_variant,p.Val249Met,ENST00000417625,NM_001278921.1;CYP3A43,missense_variant,p.Val148Met,ENST00000415413,;CYP3A43,missense_variant,p.Val106Met,ENST00000444905,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000477658,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000491648,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000495115,;CYP3A43,intron_variant,,ENST00000463915,;CYP3A43,3_prime_UTR_variant,,ENST00000434806,;CYP3A43,3_prime_UTR_variant,,ENST00000433277,;CYP3A43,3_prime_UTR_variant,,ENST00000436834,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000481362,;CYP3A43,non_coding_transcript_exon_variant,,ENST00000472352,;							MODERATE	1075/1512	V359M	CP343_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000346887		CCDS5676.1			1	
TRBV2	0	LGGM	GRCh37	7	142001229	142001229	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	7	6	.	.	ENST00000455382.2:c.222C>A	p.Ala74=	p.A74=	ENST00000455382		74	gcC/gcA	0	1	1	UPI0001B79290	0		ENST00000455382		ENSG00000226660	12195		13			HGNC	p.A74A		TRBV2		SNV							ENST00000455382	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF20,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		A		A		395/421							YES	TRBV2,synonymous_variant,p.=,ENST00000455382,;TRBV1,downstream_gene_variant,,ENST00000476502,;							LOW	222/248					Transcript			.	ENSP00000388523					1	
SORBS1	0	LGGM	GRCh37	10	97174481	97174481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	19	7	.	.	ENST00000371247.2:c.580G>T	p.Ala194Ser	p.A194S	ENST00000371247		194	Gcg/Tcg	0	1		UPI000013D6B7	0	NA	ENST00000361941		ENSG00000095637	14565		26	0.695		HGNC	p.A185S		SORBS1		SNV							ENST00000393949	protein_coding	getma.org/?cm=var&var=hg19,10,97174481,C,A&fts=all		Low_complexity_(Seg):seg		A/S		A	neutral	607/3940		getma.org/?cm=msa&ty=f&p=SRBS1_HUMAN&rb=1&re=200&var=A194S	tolerated_low_confidence(0.09)					SORBS1,missense_variant,p.Ala194Ser,ENST00000371247,;SORBS1,missense_variant,p.Ala194Ser,ENST00000371227,;SORBS1,missense_variant,p.Ala194Ser,ENST00000371246,;SORBS1,missense_variant,p.Ala185Ser,ENST00000393949,;SORBS1,missense_variant,p.Ala162Ser,ENST00000371249,NM_015385.2;SORBS1,missense_variant,p.Ala194Ser,ENST00000361941,NM_001034954.1;SORBS1,missense_variant,p.Ala194Ser,ENST00000277982,NM_001034955.1;SORBS1,missense_variant,p.Ala185Ser,ENST00000354106,;SORBS1,intron_variant,,ENST00000353505,;SORBS1,intron_variant,,ENST00000347291,;SORBS1,intron_variant,,ENST00000306402,NM_024991.1;SORBS1,intron_variant,,ENST00000607232,;SORBS1,intron_variant,,ENST00000371245,NM_001034956.1;SORBS1,intron_variant,,ENST00000371239,;SORBS1,intron_variant,,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,intron_variant,,ENST00000486141,;SORBS1,downstream_gene_variant,,ENST00000492542,;SORBS1,non_coding_transcript_exon_variant,,ENST00000474353,;SORBS1,upstream_gene_variant,,ENST00000465489,;							MODERATE	580/3879	A194S	SRBS1_HUMAN			Transcript		benign(0.06)	.	ENSP00000355136		CCDS31255.1			1	
PTPN6	0	LGGM	GRCh37	12	7065624	7065624	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	25	7	.	.	ENST00000456013.1:c.967G>T	p.Ala323Ser	p.A323S	ENST00000456013	NM_080549.3	323	Gcc/Tcc	0	1		UPI000013296A	0	getma.org/pdb.php?prot=PTN6_HUMAN&from=270&to=514&var=A323S	ENST00000318974		ENSG00000111679	9658		32	2.63		HGNC	p.A323S		PTPN6		SNV							ENST00000318974	protein_coding	getma.org/?cm=var&var=hg19,12,7065624,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,Prints_domain:PR00700,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF65,SMART_domains:SM00194,Superfamily_domains:SSF52799		A/S		T	medium	1211/2245		getma.org/?cm=msa&ty=f&p=PTN6_HUMAN&rb=270&re=514&var=A323S	tolerated(0.1)	F5H0N8_HUMAN				PTPN6,missense_variant,p.Ala323Ser,ENST00000456013,NM_080549.3;PTPN6,missense_variant,p.Ala323Ser,ENST00000318974,NM_002831.5;PTPN6,missense_variant,p.Ala325Ser,ENST00000399448,NM_080548.4;PTPN6,missense_variant,p.Ala284Ser,ENST00000447931,;PTPN6,downstream_gene_variant,,ENST00000543115,;PTPN6,downstream_gene_variant,,ENST00000541698,;PTPN6,downstream_gene_variant,,ENST00000538715,;PTPN6,downstream_gene_variant,,ENST00000542462,;PTPN6,upstream_gene_variant,,ENST00000539029,;PTPN6,upstream_gene_variant,,ENST00000537533,;PTPN6,downstream_gene_variant,,ENST00000542277,;PTPN6,downstream_gene_variant,,ENST00000540740,;PTPN6,downstream_gene_variant,,ENST00000543120,;PTPN6,downstream_gene_variant,,ENST00000534900,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,downstream_gene_variant,,ENST00000543744,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,upstream_gene_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000536013,;PTPN6,downstream_gene_variant,,ENST00000535462,;PTPN6,downstream_gene_variant,,ENST00000536521,;							MODERATE	967/1788	A323S	PTN6_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000326010		CCDS44820.1			1	
TNC	0	LGGM	GRCh37	9	117825308	117825308	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	4	7	.	.	ENST00000350763.4:c.3921C>A	p.Ser1307Arg	p.S1307R	ENST00000350763	NM_002160.3	1307	agC/agA	0	1	1	UPI000013D5BD	0	getma.org/pdb.php?prot=TENA_HUMAN&from=1257&to=1337&var=S1307R	ENST00000350763		ENSG00000041982	5318		11	1.935		HGNC	p.S1307R		TNC		SNV			1				ENST00000350763	protein_coding	getma.org/?cm=var&var=hg19,9,117825308,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,SMART_domains:SM00060,Superfamily_domains:SSF49265		S/R		T	medium	4333/7641		getma.org/?cm=msa&ty=f&p=TENA_HUMAN&rb=1257&re=1337&var=S1307R	tolerated(0.13)	F5H5D6_HUMAN			YES	TNC,missense_variant,p.Ser1307Arg,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Ser1307Arg,ENST00000423613,;TNC,intron_variant,,ENST00000341037,;TNC,intron_variant,,ENST00000340094,;TNC,intron_variant,,ENST00000535648,;TNC,intron_variant,,ENST00000346706,;TNC,intron_variant,,ENST00000345230,;TNC,intron_variant,,ENST00000542877,;TNC,intron_variant,,ENST00000537320,;TNC,intron_variant,,ENST00000544972,;TNC,non_coding_transcript_exon_variant,,ENST00000476680,;TNC,intron_variant,,ENST00000498724,;TNC,intron_variant,,ENST00000473855,;							MODERATE	3921/6606	S1307R	TENA_HUMAN			Transcript		benign(0.309)	.	ENSP00000265131		CCDS6811.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26237331	26237331	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	16	8	.	.	ENST00000354667.4:c.64A>C	p.Lys22Gln	p.K22Q	ENST00000354667	NM_031243.2	22	Aag/Cag	0	1	1	UPI000002F091	0	getma.org/pdb.php?prot=ROA2_HUMAN&from=21&to=104&var=K22Q	ENST00000354667		ENSG00000122566	5033		24	2.915		HGNC	p.K22Q		HNRNPA2B1		SNV			1				ENST00000354667	protein_coding	getma.org/?cm=var&var=hg19,7,26237331,T,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		K/Q		G	medium	233/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=21&re=104&var=K22Q	deleterious(0.01)				YES	HNRNPA2B1,missense_variant,p.Lys22Gln,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Lys10Gln,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;CBX3,upstream_gene_variant,,ENST00000497498,;HNRNPA2B1,missense_variant,p.Lys22Gln,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;							MODERATE	64/1062	K22Q	ROA2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000346694		CCDS43557.1			1	
KLHL33	0	LGGM	GRCh37	14	20897069	20897069	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	2	8	.	.	ENST00000344581.4:c.1541T>A	p.Leu514Gln	p.L514Q	ENST00000344581	NM_001109997.2	514	cTg/cAg	0	1	1	UPI00016630E8	0	NA	ENST00000344581		ENSG00000185271	31952		10	1.195		HGNC	p.L514Q		KLHL33		SNV							ENST00000344581	protein_coding	getma.org/?cm=var&var=hg19,14,20897069,A,T&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF158,SMART_domains:SM00612		L/Q		T	low	1764/1863		getma.org/?cm=msa&ty=f&p=KLH33_HUMAN&rb=453&re=533&var=L514Q	deleterious(0)	B2RUZ8_HUMAN			YES	KLHL33,missense_variant,p.Leu514Gln,ENST00000344581,NM_001109997.2;							MODERATE	1541/1602	L514Q	KLH33_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000341549		CCDS53882.1			1	
HIST1H4I	0	LGGM	GRCh37	6	27107213	27107213	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	28	8	.	.	ENST00000354348.2:c.126C>G	p.Gly42=	p.G42=	ENST00000354348	NM_003495.2	42	ggC/ggG	0	1	1	UPI000000003C	0		ENST00000354348		ENSG00000198339	4793		36			HGNC	p.G42G		HIST1H4I		SNV							ENST00000354348	protein_coding			hmmpanther:PTHR10484,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00803,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623		G		G		138/1343				Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4I,synonymous_variant,p.=,ENST00000354348,NM_003495.2;HIST1H2BK,intron_variant,,ENST00000396891,NM_080593.2;HIST1H2AG,downstream_gene_variant,,ENST00000359193,NM_021064.4;							LOW	126/312		H4_HUMAN			Transcript			.	ENSP00000346316		CCDS4620.1			1	
METTL13	0	LGGM	GRCh37	1	171763575	171763575	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	42	8	.	.	ENST00000361735.3:c.1733G>A	p.Ser578Asn	p.S578N	ENST00000361735	NM_015935.4	578	aGt/aAt	0	1	1	UPI000006DE3D	0	getma.org/pdb.php?prot=MET13_HUMAN&from=401&to=600&var=S578N	ENST00000361735		ENSG00000010165	24248		50	1.86		HGNC	p.S422N		METTL13		SNV							ENST00000367737	protein_coding	getma.org/?cm=var&var=hg19,1,171763575,G,A&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF12847,hmmpanther:PTHR12176,hmmpanther:PTHR12176:SF13,Superfamily_domains:SSF53335		S/N		A	low	1999/3327		getma.org/?cm=msa&ty=f&p=MET13_HUMAN&rb=401&re=600&var=S578N	tolerated(0.14)	C4B4C6_HUMAN			YES	METTL13,missense_variant,p.Ser578Asn,ENST00000361735,NM_015935.4;METTL13,missense_variant,p.Ser492Asn,ENST00000362019,NM_014955.2;METTL13,missense_variant,p.Ser422Asn,ENST00000367737,NM_001007239.1;METTL13,missense_variant,p.Ser577Asn,ENST00000458517,;METTL13,non_coding_transcript_exon_variant,,ENST00000466643,;METTL13,non_coding_transcript_exon_variant,,ENST00000476386,;METTL13,downstream_gene_variant,,ENST00000478330,;							MODERATE	1733/2100	S578N	MET13_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000354920		CCDS1299.1			1	
FZD10	0	LGGM	GRCh37	12	130649213	130649213	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	7	8	.	.	ENST00000229030.4:c.1726C>T	p.Gln576Ter	p.Q576*	ENST00000229030		576	Cag/Tag	0	1	1	UPI000004EC92	0	NA	ENST00000229030		ENSG00000111432	4039		15	0		HGNC	p.Q576X		FZD10		SNV							ENST00000229030	protein_coding	getma.org/?cm=var&var=hg19,12,130649213,C,T&fts=all		hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309		Q/*		T	NA	2210/3281		NA					YES	FZD10,stop_gained,p.Gln576Ter,ENST00000229030,;FZD10,3_prime_UTR_variant,,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,;							HIGH	1726/1746	Q576*	FZD10_HUMAN			Transcript			.	ENSP00000229030		CCDS9267.1			1	
AMPD3	0	LGGM	GRCh37	11	10517117	10517117	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	8	8	.	.	ENST00000396554.3:c.1294G>A	p.Glu432Lys	p.E432K	ENST00000396554	NM_000480.2	432	Gag/Aag	0	1		UPI0000125959	0	getma.org/pdb.php?prot=AMPD3_HUMAN&from=310&to=717&var=E423K	ENST00000396553		ENSG00000133805	470		16	2.58		HGNC	p.E423K		AMPD3		SNV			1				ENST00000529507	protein_coding	getma.org/?cm=var&var=hg19,11,10517117,G,A&fts=all		Gene3D:3.20.20.140,Pfam_domain:PF00962,PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429		E/K		A	medium	1401/3680		getma.org/?cm=msa&ty=f&p=AMPD3_HUMAN&rb=310&re=717&var=E423K	deleterious(0)	E9PPG2_HUMAN,E9PLK6_HUMAN				AMPD3,missense_variant,p.Glu264Lys,ENST00000444303,NM_001172431.1;AMPD3,missense_variant,p.Glu432Lys,ENST00000396554,NM_000480.2;AMPD3,missense_variant,p.Glu423Lys,ENST00000396553,NM_001025389.1;AMPD3,missense_variant,p.Glu423Lys,ENST00000529507,NM_001172430.1;AMPD3,missense_variant,p.Glu430Lys,ENST00000528723,NM_001025390.1;AMPD3,upstream_gene_variant,,ENST00000530864,;AMPD3,missense_variant,p.Glu423Lys,ENST00000529834,;AMPD3,splice_region_variant,,ENST00000534047,;AMPD3,splice_region_variant,,ENST00000533116,;AMPD3,upstream_gene_variant,,ENST00000529744,;							MODERATE	1267/2304	E423K	AMPD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379801		CCDS41617.1			1	
APOA5	0	LGGM	GRCh37	11	116661579	116661579	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	29	8	.	.	ENST00000542499.1:c.366G>C	p.Leu122Phe	p.L122F	ENST00000542499	NM_001166598.1	122	ttG/ttC	0	1		UPI00000361EF	0	getma.org/pdb.php?prot=APOA5_HUMAN&from=58&to=308&var=L122F	ENST00000227665		ENSG00000110243	17288		37	2.585		HGNC	p.L122F		APOA5		SNV			1				ENST00000433069	protein_coding	getma.org/?cm=var&var=hg19,11,116661579,C,G&fts=all		Superfamily_domains:0053393,Gene3D:1.20.120.20,Pfam_domain:PF01442,hmmpanther:PTHR18976:SF13,hmmpanther:PTHR18976		L/F		G	medium	401/1897		getma.org/?cm=msa&ty=f&p=APOA5_HUMAN&rb=58&re=308&var=L122F	deleterious(0)	C9JZZ0_HUMAN,B0YIW1_HUMAN				APOA5,missense_variant,p.Leu122Phe,ENST00000542499,NM_001166598.1,NM_052968.4;APOA5,missense_variant,p.Leu122Phe,ENST00000227665,;APOA5,missense_variant,p.Leu122Phe,ENST00000433069,;ZNF259,upstream_gene_variant,,ENST00000227322,NM_003904.3;ZNF259,upstream_gene_variant,,ENST00000444935,;ZNF259,upstream_gene_variant,,ENST00000429220,;ZNF259,upstream_gene_variant,,ENST00000425791,;ZNF259,upstream_gene_variant,,ENST00000487030,;ZNF259,upstream_gene_variant,,ENST00000431973,;ZNF259,upstream_gene_variant,,ENST00000498065,;							MODERATE	366/1101	L122F	APOA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000227665		CCDS8376.2			1	
ERN2	0	LGGM	GRCh37	16	23702746	23702746	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	5	8	.	.	ENST00000256797.4:c.2521G>A	p.Asp841Asn	p.D841N	ENST00000256797	NM_033266.3	841	Gac/Aac	0	1	1	UPI000041A8F8	0	getma.org/pdb.php?prot=ERN2_HUMAN&from=786&to=912&var=D793N	ENST00000256797		ENSG00000134398	16942		13	3.335		HGNC	p.D741N		ERN2		SNV							ENST00000457008	protein_coding	getma.org/?cm=var&var=hg19,16,23702746,C,T&fts=all		PROSITE_profiles:PS51392,hmmpanther:PTHR13954:SF9,hmmpanther:PTHR13954,Pfam_domain:PF06479,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		D/N		T	medium	2690/3549		getma.org/?cm=msa&ty=f&p=ERN2_HUMAN&rb=786&re=912&var=D793N	deleterious(0.03)				YES	ERN2,missense_variant,p.Asp841Asn,ENST00000256797,NM_033266.3;ERN2,missense_variant,p.Asp741Asn,ENST00000457008,;ERN2,missense_variant,p.Asp55Asn,ENST00000562458,;PLK1,downstream_gene_variant,,ENST00000300093,NM_005030.3;CTD-2196E14.5,upstream_gene_variant,,ENST00000566143,;PLK1,downstream_gene_variant,,ENST00000562272,;ERN2,downstream_gene_variant,,ENST00000562562,;PLK1,downstream_gene_variant,,ENST00000564794,;PLK1,downstream_gene_variant,,ENST00000564947,;PLK1,downstream_gene_variant,,ENST00000562407,;							MODERATE	2521/2925	D793N	ERN2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000256797		CCDS32407.1			1	
SPTBN5	0	LGGM	GRCh37	15	42168344	42168344	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	13	9	.	.	ENST00000320955.6:c.4090G>A	p.Ala1364Thr	p.A1364T	ENST00000320955	NM_016642.3	1364	Gcc/Acc	0	1	1	UPI0000E59BE4	0	getma.org/pdb.php?prot=SPTN5_HUMAN&from=1314&to=1417&var=A1364T	ENST00000320955		ENSG00000137877	15680		22	2.675		HGNC	p.A1364T	rs370766695	SPTBN5		SNV	T:0						ENST00000320955	protein_coding	getma.org/?cm=var&var=hg19,15,42168344,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		A/T	T:0.0001	T	medium	4318/11722	3.03E-05	getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=1314&re=1417&var=A1364T					YES	SPTBN5,missense_variant,p.Ala1364Thr,ENST00000320955,NM_016642.3;							MODERATE	4090/11025	A1364T	SPTN5_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000317790	1.65E-05	CCDS61599.1			1	
TRH	0	LGGM	GRCh37	3	129695957	129695957	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	11	9	.	.	ENST00000302649.3:c.627G>A	p.Leu209=	p.L209=	ENST00000302649	NM_007117.4	209	ctG/ctA	0	1	1	UPI0000136F2B	0		ENST00000302649		ENSG00000170893	12298		20			HGNC	p.L209L	rs770124986	TRH	9.40E-05	SNV			1				ENST00000302649	protein_coding			Pfam_domain:PF05438,PIRSF_domain:PIRSF001795,hmmpanther:PTHR17530,hmmpanther:PTHR17530:SF2,Low_complexity_(Seg):seg		L		A		1154/1978							YES	TRH,synonymous_variant,p.=,ENST00000302649,NM_007117.4;TRH,synonymous_variant,p.=,ENST00000507066,;							LOW	627/729		TRH_HUMAN			Transcript			.	ENSP00000303452	8.25E-06	CCDS3066.1			1	
HNF4A	0	LGGM	GRCh37	20	43048378	43048378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	70	9	.	.	ENST00000316099.4:c.754C>A	p.Pro252Thr	p.P252T	ENST00000316099	NM_001258355.1	252	Cct/Act	0	1	1	UPI000016A0BA	0	getma.org/pdb.php?prot=HNF4A_HUMAN&from=166&to=361&var=P252T	ENST00000316099		ENSG00000101076	5024		79	0.785		HGNC	p.P230T		HNF4A		SNV			1				ENST00000316673	protein_coding	getma.org/?cm=var&var=hg19,20,43048378,C,A&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,SMART_domains:SM00430,Superfamily_domains:SSF48508		P/T		A	neutral	843/4694		getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=166&re=361&var=P252T	tolerated(0.41)	F1D8T1_HUMAN			YES	HNF4A,missense_variant,p.Pro252Thr,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.Pro252Thr,ENST00000415691,;HNF4A,missense_variant,p.Pro252Thr,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Pro230Thr,ENST00000316673,;HNF4A,missense_variant,p.Pro230Thr,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,missense_variant,p.Pro230Thr,ENST00000609795,NM_001030004.2;HNF4A,3_prime_UTR_variant,,ENST00000372920,;							MODERATE	754/1425	P252T	HNF4A_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000312987		CCDS13330.1			1	
NTRK3	0	LGGM	GRCh37	15	88799304	88799304	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	14	9	.	.	ENST00000360948.2:c.81C>T	p.Gly27=	p.G27=	ENST00000360948	NM_001012338.2	27	ggC/ggT	0	1	1	UPI000006DC82	0		ENST00000360948		ENSG00000140538	8033		23			HGNC	p.G27G		NTRK3		SNV			1				ENST00000360948	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix		G		A		243/2826				R4GNH5_HUMAN			YES	NTRK3,synonymous_variant,p.=,ENST00000394480,NM_002530.3,NM_001243101.1;NTRK3,synonymous_variant,p.=,ENST00000317501,NM_001007156.2;NTRK3,synonymous_variant,p.=,ENST00000360948,NM_001012338.2;NTRK3,synonymous_variant,p.=,ENST00000357724,;NTRK3,synonymous_variant,p.=,ENST00000355254,;NTRK3,synonymous_variant,p.=,ENST00000557856,;NTRK3,synonymous_variant,p.=,ENST00000558676,;NTRK3,synonymous_variant,p.=,ENST00000540489,;NTRK3,upstream_gene_variant,,ENST00000559188,;NTRK3-AS1,intron_variant,,ENST00000569588,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559067,;							LOW	81/2520		NTRK3_HUMAN			Transcript			.	ENSP00000354207		CCDS32322.1			1	
MEST	0	LGGM	GRCh37	7	130140659	130140659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	23	9	.	.	ENST00000223215.4:c.677G>A	p.Arg226Gln	p.R226Q	ENST00000223215	NM_001253900.1	226	cGg/cAg	0	1	1	UPI000006DE62	0	getma.org/pdb.php?prot=MEST_HUMAN&from=72&to=327&var=R226Q	ENST00000223215		ENSG00000106484	7028		32	-0.675		HGNC	p.R217Q		MEST		SNV							ENST00000341441	protein_coding	getma.org/?cm=var&var=hg19,7,130140659,G,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF25,Superfamily_domains:SSF53474		R/Q		A	neutral	898/2465		getma.org/?cm=msa&ty=f&p=MEST_HUMAN&rb=72&re=327&var=R226Q	tolerated(1)	C9JCM6_HUMAN,C9JWU9_HUMAN,C9JUD2_HUMAN,C9JRA9_HUMAN,C9JG66_HUMAN,A4D1L9_HUMAN			YES	MEST,missense_variant,p.Arg226Gln,ENST00000223215,NM_001253900.1,NM_002402.3;MEST,missense_variant,p.Arg217Gln,ENST00000341441,NM_177524.2;MEST,missense_variant,p.Arg217Gln,ENST00000393187,NM_177525.2;MEST,missense_variant,p.Arg226Gln,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,;							MODERATE	677/1008	R226Q	MEST_HUMAN			Transcript		benign(0.003)	.	ENSP00000223215		CCDS5822.1			1	
NOXA1	0	LGGM	GRCh37	9	140328654	140328654	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	10	10	.	.	ENST00000341349.2:c.1295-1G>A		p.X432_splice	ENST00000341349	NM_001256067.1			0	1	1	UPI0000074717	0		ENST00000341349		ENSG00000188747	10668		20			HGNC	-		NOXA1		SNV							ENST00000341349	protein_coding							A		-/1678							YES	NOXA1,splice_acceptor_variant,,ENST00000341349,NM_001256067.1,NM_006647.1;NOXA1,splice_acceptor_variant,,ENST00000392815,NM_001256068.1;ENTPD8,downstream_gene_variant,,ENST00000371506,NM_001033113.1;ENTPD8,downstream_gene_variant,,ENST00000344119,NM_198585.2;ENTPD8,downstream_gene_variant,,ENST00000472938,;ENTPD8,downstream_gene_variant,,ENST00000493135,;ENTPD8,downstream_gene_variant,,ENST00000461823,;							HIGH	1295/1452		NOXA1_HUMAN			Transcript			.	ENSP00000342848		CCDS7042.1			1	
GFRAL	0	LGGM	GRCh37	6	55196583	55196583	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	14	10	.	.	ENST00000340465.2:c.93C>T	p.Cys31=	p.C31=	ENST00000340465	NM_207410.2	31	tgC/tgT	0	1	1	UPI000023780D	0		ENST00000340465		ENSG00000187871	32789		24			HGNC	p.C31C		GFRAL		SNV							ENST00000340465	protein_coding			hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF1,SMART_domains:SM00907		C		T		179/1911							YES	GFRAL,synonymous_variant,p.=,ENST00000340465,NM_207410.2;							LOW	93/1185		GFRAL_HUMAN			Transcript			.	ENSP00000343636		CCDS4957.1			1	
ZNF234	0	LGGM	GRCh37	19	44661527	44661527	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	124	10	.	.	ENST00000426739.2:c.1358A>G	p.Gln453Arg	p.Q453R	ENST00000426739	NM_006630.2	453	cAg/cGg	0	1	1	UPI0000070C95	0	getma.org/pdb.php?prot=ZN234_HUMAN&from=442&to=467&var=Q453R	ENST00000426739		ENSG00000263002	13027		134	0.675		HGNC	p.Q453R		ZNF234		SNV							ENST00000592437	protein_coding	getma.org/?cm=var&var=hg19,19,44661527,A,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF195		Q/R		G	neutral	1616/3245		getma.org/?cm=msa&ty=f&p=ZN234_HUMAN&rb=422&re=487&var=Q453R	deleterious(0)	Q86WM3_HUMAN,Q86WM2_HUMAN			YES	ZNF234,missense_variant,p.Gln453Arg,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Gln453Arg,ENST00000592437,NM_001144824.1;							MODERATE	1358/2103	Q453R	ZN234_HUMAN			Transcript		benign(0.158)	.	ENSP00000400878		CCDS46101.1			1	
PCDH17	0	LGGM	GRCh37	13	58298971	58298971	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	31	11	.	.	ENST00000377918.3:c.3023A>T	p.His1008Leu	p.H1008L	ENST00000377918	NM_001040429.2	1008	cAc/cTc	0	1	1	UPI00001FCE5B	0	NA	ENST00000377918		ENSG00000118946	14267	8.65E-05	42	1.525		HGNC	p.H1008L	rs755389105	PCDH17		SNV							ENST00000377918	protein_coding	getma.org/?cm=var&var=hg19,13,58298971,A,T&fts=all				H/L		T	low	3049/7523		getma.org/?cm=msa&ty=f&p=PCD17_HUMAN&rb=751&re=1157&var=H1008L	deleterious(0.01)				YES	PCDH17,missense_variant,p.His1008Leu,ENST00000377918,NM_001040429.2;PCDH17,3_prime_UTR_variant,,ENST00000484979,;							MODERATE	3023/3480	H1008L	PCD17_HUMAN			Transcript		benign(0.147)	.	ENSP00000367151	8.24E-06	CCDS31986.1			1	
ZNF37A	0	LGGM	GRCh37	10	38407620	38407620	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	30	11	.	.	ENST00000361085.5:c.1541A>G	p.His514Arg	p.H514R	ENST00000361085	NM_001178101.1	514	cAt/cGt	0	1		UPI000006E045	0	getma.org/pdb.php?prot=ZN37A_HUMAN&from=509&to=534&var=H514R	ENST00000351773		ENSG00000075407	13102		41	-1.25		HGNC	p.H514R		ZNF37A		SNV							ENST00000351773	protein_coding	getma.org/?cm=var&var=hg19,10,38407620,A,G&fts=all		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		H/R		G	neutral	2371/7027		getma.org/?cm=msa&ty=f&p=ZN37A_HUMAN&rb=489&re=554&var=H514R	tolerated(0.13)					ZNF37A,missense_variant,p.His514Arg,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,missense_variant,p.His514Arg,ENST00000351773,NM_001007094.2;ZNF37A,downstream_gene_variant,,ENST00000479469,;ZNF37A,downstream_gene_variant,,ENST00000477790,;							MODERATE	1541/1686	H514R	ZN37A_HUMAN			Transcript		benign(0.183)	.	ENSP00000329141		CCDS31183.1			1	
ZNF99	0	LGGM	GRCh37	19	22939242	22939242	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	24	11	.	.				ENST00000442497				0	1	1	UPI0000426011	0		ENST00000596209		ENSG00000213973	13175		35		874	HGNC	p.C977S		ZNF99		SNV							ENST00000397104	protein_coding							T		-/2686				M0R335_HUMAN			YES	ZNF99,missense_variant,p.Cys977Ser,ENST00000397104,;ZNF99,downstream_gene_variant,,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODIFIER	-/2595					Transcript			.	ENSP00000472969		CCDS59369.1			1	
SNRPF	0	LGGM	GRCh37	12	96255037	96255037	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	22	12	.	.	ENST00000266735.5:c.95A>G	p.Tyr32Cys	p.Y32C	ENST00000266735	NM_003095.2	32	tAt/tGt	0	1	1	UPI0000027DBC	0		ENST00000266735		ENSG00000139343	11162		34			HGNC	p.Y32C		SNRPF		SNV							ENST00000552085	protein_coding			hmmpanther:PTHR11021,Gene3D:2.30.30.100,Pfam_domain:PF01423,PIRSF_domain:PIRSF006609,SMART_domains:SM00651,Superfamily_domains:SSF50182		Y/C		G		241/1389			tolerated(0.09)				YES	SNRPF,missense_variant,p.Tyr32Cys,ENST00000266735,NM_003095.2;SNRPF,missense_variant,p.Tyr32Cys,ENST00000552085,;SNRPF,missense_variant,p.Tyr32Cys,ENST00000553192,;RP11-536G4.2,upstream_gene_variant,,ENST00000553194,;RP11-536G4.2,upstream_gene_variant,,ENST00000551893,;SNRPF,non_coding_transcript_exon_variant,,ENST00000551316,;SNRPF,upstream_gene_variant,,ENST00000549580,;RP11-536G4.2,upstream_gene_variant,,ENST00000553163,;							MODERATE	95/261		RUXF_HUMAN			Transcript		benign(0.072)	.	ENSP00000266735		CCDS9055.1			1	
TSC2	0	LGGM	GRCh37	16	2126556	2126556	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	16	12	.	.	ENST00000219476.3:c.2807G>A	p.Arg936Gln	p.R936Q	ENST00000219476	NM_000548.3	936	cGg/cAg	0	1	1	UPI000013C781	0	NA	ENST00000219476		ENSG00000103197	12363		28	1.875		HGNC	p.R936Q	COSM1268760,COSM1268759	TSC2		SNV			1			1,1	ENST00000350773	protein_coding	getma.org/?cm=var&var=hg19,16,2126556,G,A&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1		R/Q		A	low	3437/6156		getma.org/?cm=msa&ty=f&p=TSC2_HUMAN&rb=905&re=1104&var=R936Q	tolerated(0.09)				YES	TSC2,missense_variant,p.Arg936Gln,ENST00000219476,NM_000548.3;TSC2,missense_variant,p.Arg936Gln,ENST00000350773,NM_001114382.1;TSC2,missense_variant,p.Arg936Gln,ENST00000353929,;TSC2,missense_variant,p.Arg947Gln,ENST00000568454,;TSC2,missense_variant,p.Arg936Gln,ENST00000401874,NM_001077183.1;TSC2,missense_variant,p.Arg899Gln,ENST00000439673,;TSC2,missense_variant,p.Arg887Gln,ENST00000382538,;TSC2,upstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,3_prime_UTR_variant,,ENST00000471143,;TSC2,3_prime_UTR_variant,,ENST00000483020,;TSC2,upstream_gene_variant,,ENST00000497886,;TSC2,downstream_gene_variant,,ENST00000463808,;TSC2,downstream_gene_variant,,ENST00000488675,;TSC2,upstream_gene_variant,,ENST00000561695,;TSC2,downstream_gene_variant,,ENST00000563346,;TSC2,downstream_gene_variant,,ENST00000568566,;					1,1		MODERATE	2807/5424	R936Q	TSC2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000219476		CCDS10458.1			1	
SPTLC1	0	LGGM	GRCh37	9	94794796	94794796	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	27	12	.	.	ENST00000262554.2:c.1373A>T	p.Glu458Val	p.E458V	ENST00000262554	NM_001281303.1	458	gAg/gTg	0	1	1	UPI000012E27B	0	NA	ENST00000262554		ENSG00000090054	11277		39	1.51		HGNC	p.E458V		SPTLC1		SNV			1				ENST00000262554	protein_coding	getma.org/?cm=var&var=hg19,9,94794796,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF2,Pfam_domain:PF00155,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		E/V		A	low	1379/1894		getma.org/?cm=msa&ty=f&p=SPTC1_HUMAN&rb=98&re=464&var=E458V	tolerated(0.1)	B4DR90_HUMAN			YES	SPTLC1,missense_variant,p.Glu458Val,ENST00000262554,NM_001281303.1,NM_006415.3;SPTLC1,non_coding_transcript_exon_variant,,ENST00000469778,;HSPE1P22,downstream_gene_variant,,ENST00000456856,;							MODERATE	1373/1422	E458V	SPTC1_HUMAN			Transcript		benign(0.16)	.	ENSP00000262554		CCDS6692.1			1	
C1GALT1	0	LGGM	GRCh37	7	7274016	7274016	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	33	12	.	.	ENST00000436587.2:c.66A>G	p.Leu22=	p.L22=	ENST00000436587	NM_020156.4	22	ttA/ttG	0	1		UPI000003DC31	0		ENST00000223122		ENSG00000106392	24337		45			HGNC	p.L22L		C1GALT1		SNV							ENST00000223122	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR23033:SF13,hmmpanther:PTHR23033		L		G		128/6078				C9K0C8_HUMAN,C9JDX1_HUMAN				C1GALT1,synonymous_variant,p.=,ENST00000436587,NM_020156.4;C1GALT1,synonymous_variant,p.=,ENST00000223122,;C1GALT1,synonymous_variant,p.=,ENST00000402468,;C1GALT1,synonymous_variant,p.=,ENST00000429911,;C1GALT1,synonymous_variant,p.=,ENST00000419721,;C1GALT1,non_coding_transcript_exon_variant,,ENST00000476068,;							LOW	66/1092		C1GLT_HUMAN			Transcript			.	ENSP00000223122		CCDS5355.1			1	
SLC5A10	0	LGGM	GRCh37	17	18874345	18874345	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	5	12	.	.	ENST00000395647.2:c.660T>A	p.Gly220=	p.G220=	ENST00000395647	NM_152351.4	220	ggT/ggA	0	1		UPI000003ED41	0		ENST00000395645		ENSG00000154025	23155		17			HGNC	p.G193G		SLC5A10		SNV							ENST00000395643	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF57,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474		G		A		678/2069								SLC5A10,synonymous_variant,p.=,ENST00000317977,NM_001282417.1;SLC5A10,synonymous_variant,p.=,ENST00000395642,;SLC5A10,synonymous_variant,p.=,ENST00000395647,NM_152351.4;SLC5A10,synonymous_variant,p.=,ENST00000395645,NM_001042450.2;SLC5A10,synonymous_variant,p.=,ENST00000395643,NM_001270648.1;SLC5A10,synonymous_variant,p.=,ENST00000417251,NM_001270649.1;FAM83G,3_prime_UTR_variant,,ENST00000388995,;FAM83G,downstream_gene_variant,,ENST00000345041,;FAM83G,downstream_gene_variant,,ENST00000585154,NM_001039999.2;FAM83G,downstream_gene_variant,,ENST00000399096,;							LOW	660/1791		SC5AA_HUMAN			Transcript			.	ENSP00000379007		CCDS42275.1			1	
CMIP	0	LGGM	GRCh37	16	81730236	81730236	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	5	12	.	.	ENST00000537098.3:c.1602G>A	p.Val534=	p.V534=	ENST00000537098	NM_198390.2	534	gtG/gtA	0	1	1	UPI00001FFCBD	0		ENST00000537098		ENSG00000153815	24319		17			HGNC	p.V381V		CMIP		SNV							ENST00000398040	protein_coding			hmmpanther:PTHR25480:SF183,hmmpanther:PTHR25480		V		A		1674/4357							YES	CMIP,synonymous_variant,p.=,ENST00000537098,NM_198390.2;CMIP,synonymous_variant,p.=,ENST00000539778,NM_030629.2;CMIP,synonymous_variant,p.=,ENST00000398040,;CMIP,non_coding_transcript_exon_variant,,ENST00000566513,;CMIP,non_coding_transcript_exon_variant,,ENST00000569146,;CMIP,non_coding_transcript_exon_variant,,ENST00000565680,;							LOW	1602/2322		CMIP_HUMAN			Transcript			.	ENSP00000446100		CCDS54044.1			1	
LIMK1	0	LGGM	GRCh37	7	73530183	73530183	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	11	12	.	.	ENST00000336180.2:c.1462G>T	p.Glu488Ter	p.E488*	ENST00000336180	NM_002314.3	488	Gag/Tag	0	1	1	UPI000013D678	0	NA	ENST00000336180		ENSG00000106683	6613		23	0		HGNC	p.E488X		LIMK1		SNV			1				ENST00000336180	protein_coding	getma.org/?cm=var&var=hg19,7,73530183,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379,Superfamily_domains:SSF56112		E/*		T	NA	1513/3219		NA		Q75MU4_HUMAN			YES	LIMK1,stop_gained,p.Glu518Ter,ENST00000418310,;LIMK1,stop_gained,p.Glu488Ter,ENST00000336180,NM_002314.3;LIMK1,stop_gained,p.Glu454Ter,ENST00000538333,NM_001204426.1;LIMK1,3_prime_UTR_variant,,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000476792,;LIMK1,downstream_gene_variant,,ENST00000483414,;							HIGH	1462/1944	E488*	LIMK1_HUMAN			Transcript			.	ENSP00000336740		CCDS5563.1			1	
PIK3R1	0	LGGM	GRCh37	5	67589610	67589610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	27	12	.	.	ENST00000274335.5:c.1373A>G	p.Glu458Gly	p.E458G	ENST00000274335		458	gAa/gGa	0	1	1	UPI000013D9FF	0	getma.org/pdb.php?prot=P85A_HUMAN&from=409&to=608&var=E458G	ENST00000521381		ENSG00000145675	8979		39	1.885		HGNC	p.E458G		PIK3R1		SNV			1				ENST00000274335	protein_coding	getma.org/?cm=var&var=hg19,5,67589610,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3		E/G		G	low	1989/7011		getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=409&re=608&var=E458G	deleterious(0.03)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN			YES	PIK3R1,missense_variant,p.Glu458Gly,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Glu458Gly,ENST00000396611,;PIK3R1,missense_variant,p.Glu458Gly,ENST00000274335,;PIK3R1,missense_variant,p.Glu458Gly,ENST00000521657,;PIK3R1,missense_variant,p.Glu158Gly,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Glu95Gly,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Glu188Gly,ENST00000336483,NM_181504.3;PIK3R1,missense_variant,p.Glu131Gly,ENST00000519025,;PIK3R1,missense_variant,p.Glu95Gly,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,;							MODERATE	1373/2175	E458G	P85A_HUMAN			Transcript		benign(0.055)	.	ENSP00000428056		CCDS3993.1			1	
MCM9	0	LGGM	GRCh37	6	119147980	119147980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	12	13	.	.	ENST00000316316.6:c.1780A>G	p.Ile594Val	p.I594V	ENST00000316316	NM_017696.2	594	Att/Gtt	0	1	1	UPI0001AE7302	0	getma.org/pdb.php?prot=MCM9_HUMAN&from=287&to=605&var=I594V	ENST00000316316		ENSG00000111877	21484		25	0.155		HGNC	p.I213V		MCM9		SNV							ENST00000243218	protein_coding	getma.org/?cm=var&var=hg19,6,119147980,T,C&fts=all		Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF48,SMART_domains:SM00350,Superfamily_domains:SSF52540		I/V		C	neutral	2067/5101		getma.org/?cm=msa&ty=f&p=MCM9_HUMAN&rb=287&re=605&var=I594V	tolerated(1)	D6RHY8_HUMAN,D6RE85_HUMAN			YES	MCM9,missense_variant,p.Ile594Val,ENST00000316316,NM_017696.2;MCM9,missense_variant,p.Ile86Val,ENST00000458674,;MCM9,downstream_gene_variant,,ENST00000505485,;MCM9,downstream_gene_variant,,ENST00000368478,;							MODERATE	1780/3432	I594V	MCM9_HUMAN			Transcript		benign(0.021)	.	ENSP00000314505		CCDS56447.1			1	
CREB3L3	0	LGGM	GRCh37	19	4164537	4164537	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	23	13	.	.	ENST00000078445.2:c.614C>T	p.Pro205Leu	p.P205L	ENST00000078445	NM_032607.2	205	cCt/cTt	0	1	1	UPI000006FCF0	0	NA	ENST00000078445		ENSG00000060566	18855		36	2.24		HGNC	p.P205L		CREB3L3		SNV			1				ENST00000602147	protein_coding	getma.org/?cm=var&var=hg19,19,4164537,C,T&fts=all		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98		P/L		T	medium	761/2618		getma.org/?cm=msa&ty=f&p=CR3L3_HUMAN&rb=201&re=240&var=P205L	deleterious(0.03)				YES	CREB3L3,missense_variant,p.Pro205Leu,ENST00000078445,NM_032607.2,NM_001271996.1,NM_001271997.1,NM_001271995.1;CREB3L3,missense_variant,p.Pro145Leu,ENST00000252587,;CREB3L3,missense_variant,p.Pro204Leu,ENST00000595923,;CREB3L3,missense_variant,p.Pro203Leu,ENST00000602257,;CREB3L3,missense_variant,p.Pro205Leu,ENST00000602147,;CREB3L3,non_coding_transcript_exon_variant,,ENST00000598894,;							MODERATE	614/1386	P205L	CR3L3_HUMAN			Transcript		benign(0.276)	.	ENSP00000078445		CCDS12121.1			1	
VIPR1	0	LGGM	GRCh37	3	42573793	42573793	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	18	13	.	.	ENST00000325123.4:c.978A>T	p.Pro326=	p.P326=	ENST00000325123	NM_001251885.1	326	ccA/ccT	0	1	1	UPI000005045A	0		ENST00000325123		ENSG00000114812	12694		31			HGNC	p.P285P	rs746289437	VIPR1		SNV							ENST00000433647	protein_coding			PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF31,hmmpanther:PTHR12011,Gene3D:1.20.1070.10,Pfam_domain:PF00002,Superfamily_domains:SSF81321		P		T		1091/2773				C9JH33_HUMAN			YES	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.=,ENST00000438259,NM_001251883.1;VIPR1,downstream_gene_variant,,ENST00000439731,;VIPR1,downstream_gene_variant,,ENST00000450274,;VIPR1-AS1,intron_variant,,ENST00000452639,;VIPR1-AS1,intron_variant,,ENST00000608869,;VIPR1-AS1,intron_variant,,ENST00000610022,;VIPR1-AS1,upstream_gene_variant,,ENST00000600342,;VIPR1-AS1,upstream_gene_variant,,ENST00000602176,;VIPR1-AS1,upstream_gene_variant,,ENST00000598837,;VIPR1-AS1,upstream_gene_variant,,ENST00000593611,;VIPR1-AS1,upstream_gene_variant,,ENST00000593621,;VIPR1-AS1,upstream_gene_variant,,ENST00000596630,;VIPR1-AS1,upstream_gene_variant,,ENST00000601312,;VIPR1,downstream_gene_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,,ENST00000498102,;VIPR1,downstream_gene_variant,,ENST00000465338,;VIPR1,downstream_gene_variant,,ENST00000495189,;							LOW	978/1374		VIPR1_HUMAN			Transcript			.	ENSP00000327246		CCDS2698.1			1	
NUDCD3	0	LGGM	GRCh37	7	44431939	44431939	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	20	13	.	.	ENST00000355451.7:c.932A>G	p.Asp311Gly	p.D311G	ENST00000355451	NM_015332.3	311	gAc/gGc	0	1	1	UPI000020EEEB	0	NA	ENST00000355451		ENSG00000015676	22208		33	2.67		HGNC	p.D311G		NUDCD3		SNV							ENST00000355451	protein_coding	getma.org/?cm=var&var=hg19,7,44431939,T,C&fts=all		hmmpanther:PTHR12356:SF16,hmmpanther:PTHR12356,Gene3D:2.60.40.790		D/G		C	medium	1212/8256		getma.org/?cm=msa&ty=f&p=NUDC3_HUMAN&rb=268&re=361&var=D311G	deleterious(0)	A4D2J8_HUMAN			YES	NUDCD3,missense_variant,p.Asp311Gly,ENST00000355451,NM_015332.3;NUDCD3,non_coding_transcript_exon_variant,,ENST00000460110,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000338427,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000493613,;NUDCD3,intron_variant,,ENST00000487118,;NUDCD3,downstream_gene_variant,,ENST00000472246,;NUDCD3,non_coding_transcript_exon_variant,,ENST00000475952,;							MODERATE	932/1086	D311G	NUDC3_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000347626		CCDS5490.2			1	
GIGYF2	0	LGGM	GRCh37	2	233680352	233680352	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	9	13	.	.	ENST00000409451.3:c.2176G>C	p.Glu726Gln	p.E726Q	ENST00000409451		726	Gaa/Caa	0	1		UPI00001BD8AE	0	NA	ENST00000373563		ENSG00000204120	11960		22	2.33		HGNC	p.E536Q		GIGYF2		SNV			1				ENST00000452341	protein_coding	getma.org/?cm=var&var=hg19,2,233680352,G,C&fts=all		hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38		E/Q		C	medium	2308/5847		getma.org/?cm=msa&ty=f&p=PERQ2_HUMAN&rb=590&re=789&var=E705Q		C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J7G1_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN,B9EG55_HUMAN				GIGYF2,missense_variant,p.Glu727Gln,ENST00000373566,;GIGYF2,missense_variant,p.Glu705Gln,ENST00000409547,NM_015575.3;GIGYF2,missense_variant,p.Glu727Gln,ENST00000409480,NM_001103147.1;GIGYF2,missense_variant,p.Glu726Gln,ENST00000409451,;GIGYF2,missense_variant,p.Glu705Gln,ENST00000373563,NM_001103146.1;GIGYF2,missense_variant,p.Glu699Gln,ENST00000409196,NM_001103148.1;GIGYF2,missense_variant,p.Glu536Gln,ENST00000452341,;GIGYF2,missense_variant,p.Glu699Gln,ENST00000440945,;GIGYF2,missense_variant,p.Glu648Gln,ENST00000423659,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000482952,;							MODERATE	2113/3900	E705Q	PERQ2_HUMAN			Transcript		unknown(0)	.	ENSP00000362664		CCDS33401.1			1	
OFCC1	0	LGGM	GRCh37	6	9908827	9908827	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	27	13	.	.	ENST00000460363.2:c.267C>A	p.Tyr89Ter	p.Y89*	ENST00000460363		89	taC/taA	0	1	1	UPI00000740B8	0		ENST00000460363		ENSG00000181355	21017		40			HGNC	p.Y157X		OFCC1		SNV							ENST00000491508	protein_coding					Y/*		T		286/919				Q8IZS0_HUMAN			YES	OFCC1,stop_gained,p.Tyr157Ter,ENST00000316020,;OFCC1,stop_gained,p.Tyr89Ter,ENST00000460363,;OFCC1,stop_gained,p.Tyr157Ter,ENST00000491508,;OFCC1,stop_gained,p.Tyr72Ter,ENST00000492169,;OFCC1,non_coding_transcript_exon_variant,,ENST00000472329,;OFCC1,non_coding_transcript_exon_variant,,ENST00000466385,;OFCC1,non_coding_transcript_exon_variant,,ENST00000460066,;OFCC1,stop_gained,p.Tyr99Ter,ENST00000492094,;OFCC1,stop_gained,p.Tyr76Ter,ENST00000469426,;OFCC1,stop_gained,p.Tyr76Ter,ENST00000487015,;OFCC1,stop_gained,p.Tyr79Ter,ENST00000486246,;OFCC1,upstream_gene_variant,,ENST00000469656,;							HIGH	267/900					Transcript			.	ENSP00000419718					1	
SLIT2	0	LGGM	GRCh37	4	20555470	20555470	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	26	14	.	.	ENST00000504154.1:c.2604G>A	p.Gln868=	p.Q868=	ENST00000504154	NM_004787.1	868	caG/caA	0	1	1	UPI00000747E4	0		ENST00000504154		ENSG00000145147	11086		40			HGNC	p.Q69Q		SLIT2		SNV							ENST00000511508	protein_coding			hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00082,Superfamily_domains:SSF52058		Q		A		2856/6390				Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,synonymous_variant,p.=,ENST00000504154,NM_004787.1;SLIT2,synonymous_variant,p.=,ENST00000503823,;SLIT2,synonymous_variant,p.=,ENST00000273739,;SLIT2,synonymous_variant,p.=,ENST00000503837,;SLIT2,synonymous_variant,p.=,ENST00000511508,;SLIT2,upstream_gene_variant,,ENST00000509941,;SLIT2,downstream_gene_variant,,ENST00000509394,;							LOW	2604/4590		SLIT2_HUMAN			Transcript			.	ENSP00000422591		CCDS3426.1			1	
CEACAM1	0	LGGM	GRCh37	19	43023242	43023242	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	22	14	.	.	ENST00000161559.6:c.1104C>G	p.Ser368=	p.S368=	ENST00000161559	NM_001712.4	368	tcC/tcG	0	1	1	UPI0000127483	0		ENST00000161559		ENSG00000079385	1814		36			HGNC	p.S368S		CEACAM1		SNV							ENST00000161559	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF00047,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF118,hmmpanther:PTHR19955,PROSITE_profiles:PS50835		S		C		1239/3519				M0R2K4_HUMAN,M0R109_HUMAN			YES	CEACAM1,synonymous_variant,p.=,ENST00000161559,NM_001712.4;CEACAM1,synonymous_variant,p.=,ENST00000403444,NM_001205344.1,NM_001024912.2,NM_001184816.1;CEACAM1,intron_variant,,ENST00000352591,NM_001184813.1;CEACAM1,intron_variant,,ENST00000351134,;CEACAM1,intron_variant,,ENST00000358394,NM_001184815.1;CEACAM1,intron_variant,,ENST00000308072,;CEACAM1,intron_variant,,ENST00000599389,;CEACAM1,intron_variant,,ENST00000403461,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000457234,;LIPE-AS1,intron_variant,,ENST00000594624,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000377806,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000344391,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000485605,;CEACAM1,downstream_gene_variant,,ENST00000403136,;							LOW	1104/1581		CEAM1_HUMAN			Transcript			.	ENSP00000161559		CCDS12609.1			1	
IGHM	0	LGGM	GRCh37	14	106321166	106321166	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	19	14	.	.	ENST00000390559.2:c.823G>A	p.Glu275Lys	p.E275K	ENST00000390559		275	Gag/Aag	0	1	1	UPI000173A6A1	0		ENST00000390559		ENSG00000211899	5541		33			HGNC	p.E275K	rs782611089	IGHM		SNV			1				ENST00000390559	IG_C_gene			Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,PROSITE_profiles:PS50835		E/K		T		823/1461			tolerated(0.66)	Q86TT1_HUMAN			YES	IGHM,missense_variant,p.Glu275Lys,ENST00000390559,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.1,downstream_gene_variant,,ENST00000581354,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;AL122127.4,downstream_gene_variant,,ENST00000581720,;AL122127.3,downstream_gene_variant,,ENST00000580379,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.2,downstream_gene_variant,,ENST00000581918,;AL122127.5,downstream_gene_variant,,ENST00000582202,;							MODERATE	823/1362					Transcript		benign(0.043)	.	ENSP00000375001					1	
WDR83	0	LGGM	GRCh37	19	12781003	12781003	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	18	14	.	.	ENST00000418543.3:c.234C>T	p.Asp78=	p.D78=	ENST00000418543	NM_001099737.2	78	gaC/gaT	0	1	1	UPI000006DE5C	0		ENST00000418543		ENSG00000123154	32672		32			HGNC	p.D78D		WDR83		SNV							ENST00000547481	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22842,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		D		T		583/1457							YES	WDR83,synonymous_variant,p.=,ENST00000418543,NM_001099737.2;WDR83,synonymous_variant,p.=,ENST00000242796,NM_032332.3;WDR83OS,5_prime_UTR_variant,,ENST00000596731,NM_016145.3;MAN2B1,upstream_gene_variant,,ENST00000456935,NM_000528.3,NM_001173498.1;MAN2B1,upstream_gene_variant,,ENST00000221363,;WDR83,upstream_gene_variant,,ENST00000547797,;WDR83OS,upstream_gene_variant,,ENST00000598732,;WDR83OS,upstream_gene_variant,,ENST00000222190,;CTD-2192J16.24,upstream_gene_variant,,ENST00000597961,;MAN2B1,upstream_gene_variant,,ENST00000598876,;MAN2B1,upstream_gene_variant,,ENST00000486847,;WDR83OS,non_coding_transcript_exon_variant,,ENST00000600694,;MAN2B1,upstream_gene_variant,,ENST00000596512,;WDR83,synonymous_variant,p.=,ENST00000425834,;WDR83,synonymous_variant,p.=,ENST00000547481,;WDR83,3_prime_UTR_variant,,ENST00000548381,;WDR83,3_prime_UTR_variant,,ENST00000553179,;WDR83,non_coding_transcript_exon_variant,,ENST00000546754,;WDR83,non_coding_transcript_exon_variant,,ENST00000547255,;WDR83,non_coding_transcript_exon_variant,,ENST00000551329,;WDR83,non_coding_transcript_exon_variant,,ENST00000550939,;MAN2B1,upstream_gene_variant,,ENST00000466794,;WDR83,upstream_gene_variant,,ENST00000552700,;MAN2B1,upstream_gene_variant,,ENST00000600281,;							LOW	234/948		WDR83_HUMAN			Transcript			.	ENSP00000402653		CCDS12275.1			1	
PCDHA9	0	LGGM	GRCh37	5	140230098	140230098	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	7	14	.	.	ENST00000532602.1:c.2018G>A	p.Gly673Asp	p.G673D	ENST00000532602	NM_031857.1	673	gGc/gAc	0	1	1	UPI00001273D1	0	NA	ENST00000532602		ENSG00000204961	8675		21	-0.42		HGNC	p.G673D		PCDHA9		SNV							ENST00000378122	protein_coding	getma.org/?cm=var&var=hg19,5,140230098,G,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,SMART_domains:SM00112		G/D		A	neutral	3051/6293		getma.org/?cm=msa&ty=f&p=PCDA9_HUMAN&rb=588&re=678&var=G673D	deleterious_low_confidence(0.01)				YES	PCDHA9,missense_variant,p.Gly673Asp,ENST00000378122,NM_014005.3;PCDHA9,missense_variant,p.Gly673Asp,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,;PCDHA6,intron_variant,,ENST00000527624,;							MODERATE	2018/2853	G673D	PCDA9_HUMAN			Transcript		benign(0.021)	.	ENSP00000436042		CCDS54920.1			1	
PTPRS	0	LGGM	GRCh37	19	5219416	5219416	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	13	14	.	.	ENST00000357368.4:c.3828C>T	p.Ile1276=	p.I1276=	ENST00000357368	NM_002850.3	1276	atC/atT	0	1	1	UPI000059D63E	0		ENST00000357368		ENSG00000105426	9681		27			HGNC	p.I1276I	rs768318893	PTPRS		SNV				9.81E-05			ENST00000587303	protein_coding			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204		I		A		4062/7347				K7ESP0_HUMAN,K7ERX4_HUMAN			YES	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,non_coding_transcript_exon_variant,,ENST00000589851,;							LOW	3828/5847		PTPRS_HUMAN			Transcript			.	ENSP00000349932	8.24E-06	CCDS45930.1			1	
CHD2	0	LGGM	GRCh37	15	93515521	93515521	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	22	15	.	.	ENST00000394196.4:c.2379G>A	p.Leu793=	p.L793=	ENST00000394196	NM_001271.3	793	ttG/ttA	0	1	1	UPI0000E8A85C	0		ENST00000394196		ENSG00000173575	1917		37			HGNC	p.L793L		CHD2		SNV			1				ENST00000557381	protein_coding			Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540		L		A		3447/9857				Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,synonymous_variant,p.=,ENST00000394196,NM_001271.3;CHD2,synonymous_variant,p.=,ENST00000557381,;CHD2,intron_variant,,ENST00000557116,;CHD2,non_coding_transcript_exon_variant,,ENST00000557340,;CHD2,downstream_gene_variant,,ENST00000555582,;							LOW	2379/5487		CHD2_HUMAN			Transcript			.	ENSP00000377747		CCDS10374.2			1	
COL21A1	0	LGGM	GRCh37	6	55926462	55926462	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	18	15	.	.	ENST00000244728.5:c.2190T>G	p.His730Gln	p.H730Q	ENST00000244728	NM_030820.3	730	caT/caG	0	1	1	UPI0000071DFE	0	NA	ENST00000244728		ENSG00000124749	17025		33	0.805		HGNC	p.H130Q		COL21A1		SNV							ENST00000370808	protein_coding	getma.org/?cm=var&var=hg19,6,55926462,A,C&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg		H/Q		C	low	2588/4339		getma.org/?cm=msa&ty=f&p=COLA1_HUMAN&rb=730&re=790&var=H730Q	tolerated(0.51)	A6PVD9_HUMAN			YES	COL21A1,missense_variant,p.His730Gln,ENST00000244728,NM_030820.3;COL21A1,missense_variant,p.His730Gln,ENST00000535941,;COL21A1,missense_variant,p.His727Gln,ENST00000370819,;COL21A1,missense_variant,p.His130Gln,ENST00000370808,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467216,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,upstream_gene_variant,,ENST00000482933,;							MODERATE	2190/2874	H730Q	COLA1_HUMAN			Transcript		benign(0.006)	.	ENSP00000244728		CCDS55025.1			1	
DCLK1	0	LGGM	GRCh37	13	36700147	36700147	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	30	16	.	.	ENST00000255448.4:c.128G>T	p.Arg43Leu	p.R43L	ENST00000255448	NM_004734.4	43	cGc/cTc	0	1		UPI000004F5EA	0	NA	ENST00000360631		ENSG00000133083	2700		46	2.25		HGNC	p.R43L		DCLK1		SNV							ENST00000360631	protein_coding	getma.org/?cm=var&var=hg19,13,36700147,C,A&fts=all		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF123		R/L		A	medium	340/5629		getma.org/?cm=msa&ty=f&p=DCLK1_HUMAN&rb=1&re=73&var=R43L	deleterious(0)	B7Z655_HUMAN				DCLK1,missense_variant,p.Arg43Leu,ENST00000255448,NM_004734.4;DCLK1,missense_variant,p.Arg43Leu,ENST00000360631,;DCLK1,missense_variant,p.Arg43Leu,ENST00000379892,;							MODERATE	128/2223	R43L	DCLK1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000353846					1	
VPS8	0	LGGM	GRCh37	3	184586802	184586802	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	30	16	.	.	ENST00000437079.3:c.1575A>T	p.Glu525Asp	p.E525D	ENST00000437079	NM_001009921.2	525	gaA/gaT	0	1	1	UPI0000160BDC	0	NA	ENST00000437079		ENSG00000156931	29122		46	0.895		HGNC	p.E525D		VPS8		SNV							ENST00000287546	protein_coding	getma.org/?cm=var&var=hg19,3,184586802,A,T&fts=all		hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19,Superfamily_domains:SSF50969		E/D		T	low	1746/5047		getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=401&re=600&var=E525D	tolerated(0.23)	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN			YES	VPS8,missense_variant,p.Glu525Asp,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Glu525Asp,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Glu523Asp,ENST00000436792,;VPS8,missense_variant,p.Glu523Asp,ENST00000446204,;VPS8,missense_variant,p.Glu9Asp,ENST00000458721,;VPS8,downstream_gene_variant,,ENST00000465213,;VPS8,upstream_gene_variant,,ENST00000421069,;							MODERATE	1575/4287	E525D	VPS8_HUMAN			Transcript		benign(0.034)	.	ENSP00000397879		CCDS46971.1			1	
MYOM3	0	LGGM	GRCh37	1	24400725	24400725	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	20	16	.	.	ENST00000374434.3:c.2893G>A	p.Asp965Asn	p.D965N	ENST00000374434	NM_152372.3	965	Gat/Aat	0	1	1	UPI0000203A5D	0	getma.org/pdb.php?prot=MYOM3_HUMAN&from=889&to=1025&var=D965N	ENST00000374434		ENSG00000142661	26679		36	2.605		HGNC	p.D966N		MYOM3		SNV							ENST00000330966	protein_coding	getma.org/?cm=var&var=hg19,1,24400725,C,T&fts=all		SMART_domains:SM00409,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF35,hmmpanther:PTHR19900		D/N		T	medium	3056/5804		getma.org/?cm=msa&ty=f&p=MYOM3_HUMAN&rb=889&re=1025&var=D965N	deleterious(0)				YES	MYOM3,missense_variant,p.Asp966Asn,ENST00000330966,;MYOM3,missense_variant,p.Asp965Asn,ENST00000374434,NM_152372.3;MYOM3,missense_variant,p.Asp965Asn,ENST00000329601,;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;							MODERATE	2893/4314	D965N	MYOM3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363557		CCDS41281.1			1	
VCAN	0	LGGM	GRCh37	5	82836165	82836165	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	68	16	.	.	ENST00000265077.3:c.7343C>T	p.Thr2448Ile	p.T2448I	ENST00000265077	NM_004385.4	2448	aCt/aTt	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464	0.000173	84	1.935		HGNC	p.T1461I	rs745845546	VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82836165,C,T&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		T/I		T	medium	7908/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2417&re=2616&var=T2448I	deleterious(0)				YES	VCAN,missense_variant,p.Thr2448Ile,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Thr1461Ile,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	7343/10191	T2448I	CSPG2_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000265077	1.65E-05	CCDS4060.1			1	
NLRP12	0	LGGM	GRCh37	19	54313047	54313047	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	28	16	.	.	ENST00000324134.6:c.1866G>A	p.Glu622=	p.E622=	ENST00000324134	NM_144687.3	622	gaG/gaA	0	1	1	UPI00001412CE	0		ENST00000324134		ENSG00000142405	22938		44			HGNC	p.E622E	rs749647596	NLRP12		SNV			1				ENST00000345770	protein_coding			hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		E		T		2035/3801	1.50E-05						YES	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,;							LOW	1866/3186		NAL12_HUMAN			Transcript			.	ENSP00000319377	8.24E-06	CCDS12864.1			1	
SAP130	0	LGGM	GRCh37	2	128747146	128747146	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	14	17	.	.	ENST00000357702.5:c.1850A>T	p.Lys617Met	p.K617M	ENST00000357702	NM_001145928.1	617	aAg/aTg	0	1		UPI0000037CDA	0	NA	ENST00000259235		ENSG00000136715	29813		31	0.975		HGNC	p.K617M		SAP130		SNV							ENST00000357702	protein_coding	getma.org/?cm=var&var=hg19,2,128747146,T,A&fts=all		hmmpanther:PTHR13497		K/M		A	low	1980/4065		getma.org/?cm=msa&ty=f&p=SP130_HUMAN&rb=601&re=800&var=K617M	deleterious_low_confidence(0)	C9J683_HUMAN				SAP130,missense_variant,p.Lys617Met,ENST00000357702,NM_001145928.1;SAP130,missense_variant,p.Lys591Met,ENST00000259234,;SAP130,missense_variant,p.Lys617Met,ENST00000259235,NM_024545.3;							MODERATE	1850/3147	K617M	SP130_HUMAN			Transcript		unknown(0)	.	ENSP00000259235		CCDS2153.1			1	
PCCB	0	LGGM	GRCh37	3	136035808	136035808	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	29	17	.	.	ENST00000469217.1:c.1052A>T	p.Glu351Val	p.E351V	ENST00000469217	NM_001178014.1	351	gAg/gTg	0	1		UPI000006FE6C	0	getma.org/pdb.php?prot=PCCB_HUMAN&from=57&to=537&var=E331V	ENST00000251654		ENSG00000114054	8654		46	4.455		HGNC	p.E331V		PCCB		SNV			1				ENST00000251654	protein_coding	getma.org/?cm=var&var=hg19,3,136035808,A,T&fts=all		Superfamily_domains:SSF52096,Gene3D:3.90.226.10,Pfam_domain:PF01039,hmmpanther:PTHR22855:SF14,hmmpanther:PTHR22855,PROSITE_profiles:PS50989		E/V		T	high	1062/1833		getma.org/?cm=msa&ty=f&p=PCCB_HUMAN&rb=57&re=537&var=E331V	deleterious_low_confidence(0)	Q8WVH4_HUMAN,C9JVW9_HUMAN,C9JAW3_HUMAN				PCCB,missense_variant,p.Glu331Val,ENST00000471595,;PCCB,missense_variant,p.Glu362Val,ENST00000468777,;PCCB,missense_variant,p.Glu331Val,ENST00000466072,;PCCB,missense_variant,p.Glu351Val,ENST00000469217,NM_001178014.1;PCCB,missense_variant,p.Glu331Val,ENST00000251654,NM_000532.4;PCCB,missense_variant,p.Glu312Val,ENST00000483687,;PCCB,missense_variant,p.Glu308Val,ENST00000462637,;PCCB,missense_variant,p.Glu274Val,ENST00000490504,;PCCB,missense_variant,p.Glu215Val,ENST00000482086,;PCCB,intron_variant,,ENST00000478469,;PCCB,non_coding_transcript_exon_variant,,ENST00000474833,;PCCB,missense_variant,p.Glu331Val,ENST00000484181,;PCCB,non_coding_transcript_exon_variant,,ENST00000473073,;PCCB,non_coding_transcript_exon_variant,,ENST00000475214,;							MODERATE	992/1620	E331V	PCCB_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000251654		CCDS3089.1			1	
ZNF471	0	LGGM	GRCh37	19	57036926	57036926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	32	18	.	.	ENST00000308031.5:c.1490G>A	p.Arg497Lys	p.R497K	ENST00000308031	NM_020813.2	497	aGa/aAa	0	1	1	UPI0000073465	0	getma.org/pdb.php?prot=ZN471_HUMAN&from=473&to=497&var=R497K	ENST00000308031		ENSG00000196263	23226		50	0.45		HGNC	p.R497K		ZNF471		SNV							ENST00000308031	protein_coding	getma.org/?cm=var&var=hg19,19,57036926,G,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF212,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/K		A	neutral	1623/6287		getma.org/?cm=msa&ty=f&p=ZN471_HUMAN&rb=453&re=517&var=R497K	deleterious(0.04)	K7EPX1_HUMAN			YES	ZNF471,missense_variant,p.Arg497Lys,ENST00000308031,NM_020813.2;ZNF471,3_prime_UTR_variant,,ENST00000591537,;ZNF471,intron_variant,,ENST00000593197,;							MODERATE	1490/1881	R497K	ZN471_HUMAN			Transcript		benign(0.042)	.	ENSP00000309161		CCDS12945.1			1	
CLECL1P	0	LGGM	GRCh37	12	9885859	9885859	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	26	18	.	.	ENST00000327839.3:c.2T>C	p.Met1?	p.M1?	ENST00000327839	NM_172004.3	1	aTg/aCg	0	1	1	UPI00000740B2	0	NA	ENST00000327839		ENSG00000184293	24462		44	0		HGNC	p.M1T		CLECL1		SNV							ENST00000327839	protein_coding	getma.org/?cm=var&var=hg19,12,9885859,A,G&fts=all				M/T		G	NA	37/670		http://getma.org/?cm=msa&ty=f&p=CLCL1_HUMAN&rb=1&re=36&var=M1T	deleterious_low_confidence(0)				YES	CLECL1,start_lost,p.Met1?,ENST00000327839,NM_172004.3;CLECL1,upstream_gene_variant,,ENST00000542530,;							HIGH	2/504	M1T	CLCL1_HUMAN			Transcript		benign(0.402)	.	ENSP00000331766		CCDS8603.1			1	
ADCY8	0	LGGM	GRCh37	8	131955619	131955619	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	17	18	.	.	ENST00000286355.5:c.1331C>A	p.Ala444Asp	p.A444D	ENST00000286355	NM_001115.2	444	gCc/gAc	0	1	1	UPI000012887C	0	getma.org/pdb.php?prot=ADCY8_HUMAN&from=405&to=589&var=A444D	ENST00000286355		ENSG00000155897	239		35	2.425		HGNC	p.A444D	COSM3896784	ADCY8		SNV						1	ENST00000286355	protein_coding	getma.org/?cm=var&var=hg19,8,131955619,G,T&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,SMART_domains:SM00044,Superfamily_domains:SSF55073		A/D		T	medium	3424/5938		getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=405&re=589&var=A444D	deleterious(0)	E5RFR2_HUMAN			YES	ADCY8,missense_variant,p.Ala444Asp,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Ala444Asp,ENST00000377928,;ADCY8,missense_variant,p.Ala59Asp,ENST00000522949,;RP11-737F9.1,non_coding_transcript_exon_variant,,ENST00000523318,;					1		MODERATE	1331/3756	A444D	ADCY8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286355		CCDS6363.1			1	
GPI	0	LGGM	GRCh37	19	34887312	34887312	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	17	18	.	.	ENST00000415930.3:c.1202C>G	p.Ala401Gly	p.A401G	ENST00000415930	NM_001184722.1	401	gCt/gGt	0	1		UPI0000111E50	0	getma.org/pdb.php?prot=G6PI_HUMAN&from=54&to=546&var=A390G	ENST00000356487		ENSG00000105220	4458		35	4.16		HGNC	p.A390G		GPI		SNV			1				ENST00000356487	protein_coding	getma.org/?cm=var&var=hg19,19,34887312,C,G&fts=all		PROSITE_profiles:PS51463,HAMAP:MF_00473,hmmpanther:PTHR11469:SF4,hmmpanther:PTHR11469,Gene3D:3.40.50.10490,Pfam_domain:PF00342,Superfamily_domains:SSF53697		A/G		G	high	1410/2210		getma.org/?cm=msa&ty=f&p=G6PI_HUMAN&rb=54&re=546&var=A390G	deleterious_low_confidence(0)	K7EP41_HUMAN				GPI,missense_variant,p.Ala401Gly,ENST00000415930,NM_001184722.1;GPI,missense_variant,p.Ala390Gly,ENST00000356487,NM_000175.3;GPI,missense_variant,p.Ala405Gly,ENST00000588991,;GPI,missense_variant,p.Ala390Gly,ENST00000586425,;RP11-618P17.4,missense_variant,p.Ala32Gly,ENST00000592740,;RP11-618P17.4,upstream_gene_variant,,ENST00000606020,;GPI,non_coding_transcript_exon_variant,,ENST00000586392,;GPI,non_coding_transcript_exon_variant,,ENST00000589985,;GPI,upstream_gene_variant,,ENST00000586077,;							MODERATE	1169/1677	A390G	G6PI_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000348877		CCDS12437.1			1	
TRIML2	0	LGGM	GRCh37	4	189012680	189012680	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	49	18	.	.	ENST00000512729.1:c.1011C>G	p.Thr337=	p.T337=	ENST00000512729	NM_173553.1	337	acC/acG	0	1	1	UPI000007300A	0		ENST00000512729		ENSG00000179046	26378		67			HGNC	p.T362T		TRIML2		SNV							ENST00000326754	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		T		C		1386/1639							YES	TRIML2,synonymous_variant,p.=,ENST00000512729,NM_173553.1;TRIML2,synonymous_variant,p.=,ENST00000326754,;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;							LOW	1011/1164		TRIMM_HUMAN			Transcript			.	ENSP00000422581		CCDS3850.1			1	
KRTAP23-1	0	LGGM	GRCh37	21	31720732	31720732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	26	19	.	.	ENST00000334160.4:c.193C>T	p.Pro65Ser	p.P65S	ENST00000334160	NM_181624.1	65	Ccc/Tcc	0	1	1	UPI00001A9E49	0		ENST00000334160		ENSG00000186980	18928		45			HGNC	p.P65S		KRTAP23-1		SNV							ENST00000334160	protein_coding					P/S		A		193/208							YES	KRTAP23-1,missense_variant,p.Pro65Ser,ENST00000334160,NM_181624.1;							MODERATE	193/198		KR231_HUMAN			Transcript		unknown(0)	.	ENSP00000346536		CCDS33533.1			1	
CTTNBP2	0	LGGM	GRCh37	7	117417749	117417749	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	22	19	.	.	ENST00000160373.3:c.2594A>G	p.His865Arg	p.H865R	ENST00000160373	NM_033427.2	865	cAt/cGt	0	1	1	UPI000006E94A	0	getma.org/pdb.php?prot=CTTB2_HUMAN&from=801&to=877&var=H865R	ENST00000160373		ENSG00000077063	15679		41	0.865		HGNC	p.H865R	rs771060764	CTTNBP2	6.06E-05	SNV							ENST00000160373	protein_coding	getma.org/?cm=var&var=hg19,7,117417749,T,C&fts=all		hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		H/R		C	low	2686/5970		getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=801&re=877&var=H865R	deleterious(0.01)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,missense_variant,p.His865Arg,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.His353Arg,ENST00000446636,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;							MODERATE	2594/4992	H865R	CTTB2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000160373	8.24E-06	CCDS5774.1			1	
MEP1A	0	LGGM	GRCh37	6	46806845	46806845	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	19	19	.	.	ENST00000230588.4:c.2213C>T	p.Ala738Val	p.A738V	ENST00000230588	NM_005588.2	738	gCc/gTc	0	1	1	UPI000006E4E9	0	NA	ENST00000230588		ENSG00000112818	7015		38	0.695		HGNC	p.A738V	rs765228368	MEP1A		SNV							ENST00000230588	protein_coding	getma.org/?cm=var&var=hg19,6,46806845,C,T&fts=all		PIRSF_domain:PIRSF001196,Transmembrane_helices:TMhelix		A/V		T	neutral	2222/2892	3.01E-05	getma.org/?cm=msa&ty=f&p=MEP1A_HUMAN&rb=709&re=746&var=A738V	deleterious(0.05)				YES	MEP1A,missense_variant,p.Ala738Val,ENST00000230588,NM_005588.2;							MODERATE	2213/2241	A738V	MEP1A_HUMAN			Transcript		benign(0.017)	.	ENSP00000230588	1.65E-05	CCDS4918.1			1	
MCM8	0	LGGM	GRCh37	20	5966665	5966665	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	61	20	.	.	ENST00000378896.3:c.2051A>T	p.Glu684Val	p.E684V	ENST00000378896	NM_001281520.1	684	gAa/gTa	0	1	1	UPI000012EDA1	0	getma.org/pdb.php?prot=MCM8_HUMAN&from=389&to=749&var=E684V	ENST00000378896		ENSG00000125885	16147		81	2.595		HGNC	p.E668V		MCM8		SNV							ENST00000265187	protein_coding	getma.org/?cm=var&var=hg19,20,5966665,A,T&fts=all		hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF47,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540		E/V		T	medium	2428/3715		getma.org/?cm=msa&ty=f&p=MCM8_HUMAN&rb=389&re=749&var=E684V	deleterious(0.03)				YES	MCM8,missense_variant,p.Glu684Val,ENST00000378896,NM_001281520.1,NM_032485.5,NM_182802.2;MCM8,missense_variant,p.Glu637Val,ENST00000378883,NM_001281522.1;MCM8,missense_variant,p.Glu668Val,ENST00000265187,;MCM8,missense_variant,p.Glu724Val,ENST00000378886,NM_001281521.1;							MODERATE	2051/2523	E684V	MCM8_HUMAN			Transcript		possibly_damaging(0.697)	.	ENSP00000368174		CCDS13094.1			1	
ARHGAP32	0	LGGM	GRCh37	11	128842497	128842497	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	31	20	.	.	ENST00000310343.9:c.3862A>G	p.Thr1288Ala	p.T1288A	ENST00000310343	NM_001142685.1	1288	Act/Gct	0	1	1	UPI000159C61F	0	NA	ENST00000310343		ENSG00000134909	17399		51	-0.92		HGNC	p.T939A		ARHGAP32		SNV							ENST00000527272	protein_coding	getma.org/?cm=var&var=hg19,11,128842497,T,C&fts=all		hmmpanther:PTHR15729,hmmpanther:PTHR15729:SF9		T/A		C	neutral	3862/10111		getma.org/?cm=msa&ty=f&p=RHG32_HUMAN&rb=1253&re=1403&var=T1288A	tolerated_low_confidence(1)	I7H0B0_HUMAN			YES	ARHGAP32,missense_variant,p.Thr1288Ala,ENST00000310343,NM_001142685.1;ARHGAP32,missense_variant,p.Thr939Ala,ENST00000392657,NM_014715.3;ARHGAP32,missense_variant,p.Thr939Ala,ENST00000527272,;ARHGAP32,3_prime_UTR_variant,,ENST00000524655,;ARHGAP32,non_coding_transcript_exon_variant,,ENST00000526162,;							MODERATE	3862/6264	T1288A	RHG32_HUMAN			Transcript		benign(0.001)	.	ENSP00000310561		CCDS44769.1			1	
SMARCA2	0	LGGM	GRCh37	9	2039707	2039707	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	27	20	.	.	ENST00000382203.1:c.597C>T	p.Pro199=	p.P199=	ENST00000382203		199	ccC/ccT	0	1		UPI00001AE8EB	0		ENST00000349721		ENSG00000080503	11098		47			HGNC	p.P199P	rs747247552	SMARCA2	0.000182	SNV			1	0.000198			ENST00000349721	protein_coding			Pfam_domain:PF08880,PROSITE_profiles:PS51666,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,SMART_domains:SM00951		P		T		696/5757				Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN				SMARCA2,synonymous_variant,p.=,ENST00000382203,;SMARCA2,synonymous_variant,p.=,ENST00000349721,NM_003070.3;SMARCA2,synonymous_variant,p.=,ENST00000357248,NM_139045.2;SMARCA2,synonymous_variant,p.=,ENST00000382194,;SMARCA2,synonymous_variant,p.=,ENST00000450198,;SMARCA2,downstream_gene_variant,,ENST00000439732,;RP11-264I13.2,downstream_gene_variant,,ENST00000426860,;SMARCA2,non_coding_transcript_exon_variant,,ENST00000491574,;							LOW	597/4773		SMCA2_HUMAN			Transcript			.	ENSP00000265773	4.12E-05	CCDS34977.1			1	
SGK3	0	LGGM	GRCh37	8	67755707	67755707	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	20	21	.	.	ENST00000396596.1:c.999T>C	p.Ile333=	p.I333=	ENST00000396596	NM_013257.4	333	atT/atC	0	1		UPI000013591F	0		ENST00000345714		ENSG00000104205	10812		41			HGNC	p.I333I		SGK3		SNV							ENST00000521198	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF121,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		I		C		1122/4055				Q6FHV7_HUMAN,E5RK28_HUMAN,E5RJV7_HUMAN,E5RHR8_HUMAN				SGK3,synonymous_variant,p.=,ENST00000396596,NM_013257.4;SGK3,synonymous_variant,p.=,ENST00000345714,;SGK3,synonymous_variant,p.=,ENST00000521198,NM_001033578.2;SGK3,synonymous_variant,p.=,ENST00000522398,;C8orf44-SGK3,synonymous_variant,p.=,ENST00000519289,NM_001204173.1;SGK3,intron_variant,,ENST00000520976,NM_170709.2;SGK3,downstream_gene_variant,,ENST00000521152,;SGK3,non_coding_transcript_exon_variant,,ENST00000521435,;SGK3,non_coding_transcript_exon_variant,,ENST00000523260,;							LOW	999/1491		SGK3_HUMAN			Transcript			.	ENSP00000331816		CCDS6195.1			1	
RGSL1	0	LGGM	GRCh37	1	182441584	182441584	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	77	21	.	.	ENST00000294854.8:c.355G>A	p.Glu119Lys	p.E119K	ENST00000294854	NM_001137669.1	119	Gag/Aag	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		98	0.975		HGNC	p.E119K		RGSL1		SNV							ENST00000416676	protein_coding	getma.org/?cm=var&var=hg19,1,182441584,G,A&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		E/K		A	low	375/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=1&re=200&var=E119K	deleterious(0.03)	H3BNQ0_HUMAN			YES	RGSL1,missense_variant,p.Glu119Lys,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.Glu154Lys,ENST00000542961,;RGSL1,missense_variant,p.Glu52Lys,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Glu154Lys,ENST00000443996,;RGSL1,missense_variant,p.Glu119Lys,ENST00000416676,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,non_coding_transcript_exon_variant,,ENST00000444367,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,upstream_gene_variant,,ENST00000415960,;							MODERATE	355/3231	E119K	RGSL_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000457748		CCDS58049.1			1	
MOV10L1	0	LGGM	GRCh37	22	50552839	50552839	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	25	22	.	.	ENST00000262794.5:c.914T>G	p.Val305Gly	p.V305G	ENST00000262794	NM_018995.2	305	gTc/gGc	0	1	1	UPI00000421FB	0	NA	ENST00000262794		ENSG00000073146	7201		47	2.015		HGNC	p.V305G		MOV10L1		SNV							ENST00000262794	protein_coding	getma.org/?cm=var&var=hg19,22,50552839,T,G&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF321		V/G		G	medium	997/3960		getma.org/?cm=msa&ty=f&p=M10L1_HUMAN&rb=1&re=687&var=V305G	deleterious(0.02)				YES	MOV10L1,missense_variant,p.Val305Gly,ENST00000262794,NM_018995.2;MOV10L1,missense_variant,p.Val285Gly,ENST00000540615,NM_001164105.1;MOV10L1,missense_variant,p.Val305Gly,ENST00000545383,;MOV10L1,missense_variant,p.Val305Gly,ENST00000395858,NM_001164104.1;MOV10L1,5_prime_UTR_variant,,ENST00000395843,;MOV10L1,upstream_gene_variant,,ENST00000434497,;							MODERATE	914/3636	V305G	M10L1_HUMAN			Transcript		possibly_damaging(0.52)	.	ENSP00000262794		CCDS14084.1			1	
DOCK10	0	LGGM	GRCh37	2	225740844	225740844	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	79	22	.	.	ENST00000258390.7:c.842G>T	p.Trp281Leu	p.W281L	ENST00000258390	NM_014689.2	281	tGg/tTg	0	1	1	UPI000021D2A7	0	getma.org/pdb.php?prot=DOC10_HUMAN&from=182&to=290&var=W281L	ENST00000258390		ENSG00000135905	23479		101	3.695		HGNC	p.W275L		DOCK10		SNV							ENST00000409592	protein_coding	getma.org/?cm=var&var=hg19,2,225740844,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		W/L		A	high	910/7260		getma.org/?cm=msa&ty=f&p=DOC10_HUMAN&rb=182&re=290&var=W281L	deleterious(0)	Q4ZG60_HUMAN,Q3LIC8_HUMAN			YES	DOCK10,missense_variant,p.Trp275Leu,ENST00000409592,;DOCK10,missense_variant,p.Trp281Leu,ENST00000258390,NM_014689.2;DOCK10,non_coding_transcript_exon_variant,,ENST00000492369,;DOCK10,non_coding_transcript_exon_variant,,ENST00000543715,;							MODERATE	842/6561	W281L	DOC10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258390		CCDS46528.1			1	
PDLIM2	0	LGGM	GRCh37	8	22442645	22442645	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	61	22	.	.	ENST00000308354.7:c.1181C>T	p.Ser394Phe	p.S394F	ENST00000308354	NM_021630.5	394	tCc/tTc	0	1		UPI0000070C96	0	NA	ENST00000397760		ENSG00000120913	13992		83	0.345		HGNC	p.S144F	COSM1699805,COSM1699804	PDLIM2		SNV						1,1	ENST00000409417	protein_coding	getma.org/?cm=var&var=hg19,8,22442645,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF1		S/F		T	neutral	831/1837		getma.org/?cm=msa&ty=f&p=PDLI2_HUMAN&rb=82&re=281&var=S144F	deleterious(0.02)	C9K0F0_HUMAN,C9JSR2_HUMAN,C9JS55_HUMAN,C9J760_HUMAN,C9J0X3_HUMAN,B3KPU0_HUMAN				PDLIM2,missense_variant,p.Ser144Phe,ENST00000265810,NM_176871.3;PDLIM2,missense_variant,p.Ser394Phe,ENST00000308354,NM_021630.5;PDLIM2,missense_variant,p.Ser144Phe,ENST00000397760,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000339162,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000397761,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000409417,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000409141,NM_198042.3;PDLIM2,missense_variant,p.Ser144Phe,ENST00000452226,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000456545,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000429812,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000426493,;PDLIM2,missense_variant,p.Ser144Phe,ENST00000436754,;AC037459.4,upstream_gene_variant,,ENST00000450780,;AC037459.4,upstream_gene_variant,,ENST00000447849,;AC037459.4,upstream_gene_variant,,ENST00000430850,;PDLIM2,non_coding_transcript_exon_variant,,ENST00000448520,;PDLIM2,upstream_gene_variant,,ENST00000443561,;PDLIM2,3_prime_UTR_variant,,ENST00000416159,;PDLIM2,non_coding_transcript_exon_variant,,ENST00000491330,;PDLIM2,upstream_gene_variant,,ENST00000464275,;					1,1		MODERATE	431/1059	S144F	PDLI2_HUMAN			Transcript		benign(0.248)	.	ENSP00000380867					1	
ADSSL1	0	LGGM	GRCh37	14	105208236	105208236	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	29	22	.	.	ENST00000332972.5:c.974C>T	p.Thr325Met	p.T325M	ENST00000332972	NM_199165.1	325	aCg/aTg	0	1		UPI000000DC76	0	getma.org/pdb.php?prot=PURA1_HUMAN&from=33&to=455&var=T282M	ENST00000330877		ENSG00000185100	20093	0.000259	51	3.335		HGNC	p.T282M	rs542060225	ADSSL1		SNV							ENST00000330877	protein_coding	getma.org/?cm=var&var=hg19,14,105208236,C,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00788,TIGRFAM_domain:TIGR00184,Gene3D:2v40A01,Pfam_domain:PF00709,hmmpanther:PTHR11846,hmmpanther:PTHR11846:SF2,HAMAP:MF_00011,HAMAP:MF_03126		T/M		T	medium	930/1766	1.51E-05	getma.org/?cm=msa&ty=f&p=PURA1_HUMAN&rb=33&re=455&var=T282M	deleterious(0)	G3V5D8_HUMAN,B3KTV4_HUMAN				ADSSL1,missense_variant,p.Thr325Met,ENST00000332972,NM_199165.1;ADSSL1,missense_variant,p.Thr282Met,ENST00000330877,NM_152328.3;ADSSL1,upstream_gene_variant,,ENST00000556623,;ADSSL1,upstream_gene_variant,,ENST00000555674,;ADSSL1,upstream_gene_variant,,ENST00000554657,;ADSSL1,3_prime_UTR_variant,,ENST00000553540,;ADSSL1,3_prime_UTR_variant,,ENST00000555486,;ADSSL1,non_coding_transcript_exon_variant,,ENST00000557582,;ADSSL1,upstream_gene_variant,,ENST00000557271,;ADSSL1,upstream_gene_variant,,ENST00000555884,;ADSSL1,upstream_gene_variant,,ENST00000554281,;ADSSL1,upstream_gene_variant,,ENST00000553580,;							MODERATE	845/1374	T282M	PURA1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000331260	3.29E-05	CCDS9990.1			1	
KIAA0319L	0	LGGM	GRCh37	1	35936470	35936470	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	23	22	.	.	ENST00000325722.3:c.1107A>G	p.Leu369=	p.L369=	ENST00000325722	NM_024874.4	369	ctA/ctG	0	1	1	UPI000003F081	0		ENST00000325722		ENSG00000142687	30071		45			HGNC	p.L369L		KIAA0319L		SNV			1				ENST00000325722	protein_coding			SMART_domains:SM00089,Pfam_domain:PF02010,hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083		L		C		1342/4789	1.50E-05			E7EN73_HUMAN,C9JVB2_HUMAN,C9JQ56_HUMAN,C9J519_HUMAN,B1AN15_HUMAN			YES	KIAA0319L,synonymous_variant,p.=,ENST00000325722,NM_024874.4;KIAA0319L,synonymous_variant,p.=,ENST00000426982,;KIAA0319L,synonymous_variant,p.=,ENST00000440579,;KIAA0319L,synonymous_variant,p.=,ENST00000431916,;KIAA0319L,non_coding_transcript_exon_variant,,ENST00000485551,;KIAA0319L,downstream_gene_variant,,ENST00000492888,;KIAA0319L,3_prime_UTR_variant,,ENST00000470388,;KIAA0319L,intron_variant,,ENST00000482929,;KIAA0319L,intron_variant,,ENST00000478463,;							LOW	1107/3150		K319L_HUMAN			Transcript			.	ENSP00000318406	8.24E-06	CCDS390.1			1	
MKI67	0	LGGM	GRCh37	10	129907554	129907554	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	81	23	.	.	ENST00000368654.3:c.2550A>G	p.Lys850=	p.K850=	ENST00000368654	NM_002417.4	850	aaA/aaG	0	1	1	UPI000013DB54	0		ENST00000368654		ENSG00000148773	7107		104			HGNC	p.K490K		MKI67		SNV							ENST00000368653	protein_coding			hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3		K		C		2926/12678							YES	MKI67,synonymous_variant,p.=,ENST00000368654,NM_002417.4;MKI67,synonymous_variant,p.=,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,;							LOW	2550/9771		KI67_HUMAN			Transcript			.	ENSP00000357643		CCDS7659.1			1	
PIWIL4	0	LGGM	GRCh37	11	94308276	94308276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	36	23	.	.	ENST00000299001.6:c.278A>G	p.His93Arg	p.H93R	ENST00000299001	NM_152431.2	93	cAt/cGt	0	1	1	UPI000006D0EC	0	NA	ENST00000299001		ENSG00000134627	18444		59	2.505		HGNC	p.H66R		PIWIL4		SNV							ENST00000446230	protein_coding	getma.org/?cm=var&var=hg19,11,94308276,A,G&fts=all		hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF27		H/R		G	medium	489/3199		getma.org/?cm=msa&ty=f&p=PIWL4_HUMAN&rb=1&re=200&var=H93R	deleterious(0)	F5GX26_HUMAN			YES	PIWIL4,missense_variant,p.His93Arg,ENST00000299001,NM_152431.2;PIWIL4,missense_variant,p.His24Arg,ENST00000545603,;RP11-867G2.8,intron_variant,,ENST00000536540,;RP11-867G2.8,intron_variant,,ENST00000537874,;PIWIL4,missense_variant,p.His66Arg,ENST00000446230,;PIWIL4,missense_variant,p.His24Arg,ENST00000543336,;							MODERATE	278/2559	H93R	PIWL4_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000299001		CCDS31656.1			1	
STEAP3	0	LGGM	GRCh37	2	120005631	120005631	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	19	24	.	.	ENST00000393110.2:c.899G>T	p.Arg300Leu	p.R300L	ENST00000393110		300	cGc/cTc	0	1		UPI000000D8FA	0	NA	ENST00000393106		ENSG00000115107	24592		43	2.36		HGNC	p.R290L		STEAP3		SNV			1				ENST00000354888	protein_coding	getma.org/?cm=var&var=hg19,2,120005631,G,T&fts=all		Pfam_domain:PF01794,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF7		R/L		T	medium	1003/3915		getma.org/?cm=msa&ty=f&p=STEA3_HUMAN&rb=259&re=398&var=R290L	deleterious(0.02)					STEAP3,missense_variant,p.Arg290Leu,ENST00000354888,NM_182915.2;STEAP3,missense_variant,p.Arg300Leu,ENST00000393110,;STEAP3,missense_variant,p.Arg290Leu,ENST00000393108,NM_001008410.1;STEAP3,missense_variant,p.Arg290Leu,ENST00000393106,NM_018234.2;STEAP3,missense_variant,p.Arg290Leu,ENST00000425223,;STEAP3,missense_variant,p.Arg290Leu,ENST00000409811,;STEAP3,missense_variant,p.Arg290Leu,ENST00000450943,;STEAP3,missense_variant,p.Arg290Leu,ENST00000393107,;STEAP3-AS1,intron_variant,,ENST00000454260,;							MODERATE	869/1467	R290L	STEA3_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000376818		CCDS2125.1			1	
BICD1	0	LGGM	GRCh37	12	32490701	32490701	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	32	24	.	.	ENST00000281474.5:c.2521G>C	p.Gly841Arg	p.G841R	ENST00000281474	NM_001714.2	841	Ggc/Cgc	0	1	1	UPI00001AEA67	0	NA	ENST00000281474		ENSG00000151746	1049		56	0		HGNC	p.G841R		BICD1		SNV							ENST00000281474	protein_coding	getma.org/?cm=var&var=hg19,12,32490701,G,C&fts=all		hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233		G/R		C	neutral	2624/3281		getma.org/?cm=msa&ty=f&p=BICD1_HUMAN&rb=800&re=975&var=G841R	tolerated_low_confidence(0.07)				YES	BICD1,missense_variant,p.Gly841Arg,ENST00000281474,NM_001714.2;BICD1,intron_variant,,ENST00000548411,NM_001003398.1;BICD1,downstream_gene_variant,,ENST00000547680,;BICD1,non_coding_transcript_exon_variant,,ENST00000552160,;BICD1,intron_variant,,ENST00000395758,;BICD1,intron_variant,,ENST00000552226,;							MODERATE	2521/2928	G841R	BICD1_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000281474		CCDS8726.1			1	
CTNNB1	0	LGGM	GRCh37	3	41274898	41274898	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	25	24	.	.	ENST00000349496.5:c.1148G>C	p.Trp383Ser	p.W383S	ENST00000349496	NM_001904.3	383	tGg/tCg	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=350&to=390&var=W383S	ENST00000349496		ENSG00000168036	2514		49	2.87		HGNC	p.W383S		CTNNB1		SNV			1				ENST00000396183	protein_coding	getma.org/?cm=var&var=hg19,3,41274898,G,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,Superfamily_domains:SSF48371		W/S		C	medium	1428/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=350&re=390&var=W383S	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Trp383Ser,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Trp383Ser,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Trp383Ser,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Trp376Ser,ENST00000453024,;CTNNB1,missense_variant,p.Trp383Ser,ENST00000405570,;CTNNB1,upstream_gene_variant,,ENST00000482042,;CTNNB1,upstream_gene_variant,,ENST00000465552,;CTNNB1,upstream_gene_variant,,ENST00000485265,;							MODERATE	1148/2346	W383S	CTNB1_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000344456		CCDS2694.1			1	
MCHR2	0	LGGM	GRCh37	6	100390848	100390848	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	48	25	.	.	ENST00000281806.2:c.564G>A	p.Leu188=	p.L188=	ENST00000281806	NM_001040179.1	188	ttG/ttA	0	1	1	UPI000003730F	0		ENST00000281806		ENSG00000152034	20867		73			HGNC	p.L188L		MCHR2		SNV							ENST00000281806	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01784,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF7,Superfamily_domains:SSF81321		L		T		879/2368							YES	MCHR2,synonymous_variant,p.=,ENST00000281806,NM_001040179.1;MCHR2,synonymous_variant,p.=,ENST00000369212,NM_032503.2;							LOW	564/1023		MCHR2_HUMAN			Transcript			.	ENSP00000281806		CCDS5044.1			1	
CP	0	LGGM	GRCh37	3	148895668	148895668	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	22	25	.	.	ENST00000264613.6:c.2977T>G	p.Leu993Val	p.L993V	ENST00000264613	NM_000096.3	993	Tta/Gta	0	1	1	UPI000045718B	0	getma.org/pdb.php?prot=CERU_HUMAN&from=932&to=1060&var=L993V	ENST00000264613		ENSG00000047457	2295		47	0.38		HGNC	p.L922V		CP		SNV			1				ENST00000481169	protein_coding	getma.org/?cm=var&var=hg19,3,148895668,A,C&fts=all		Gene3D:2.60.40.420,Pfam_domain:PF07731,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Superfamily_domains:SSF49503		L/V		C	neutral	3240/4676		getma.org/?cm=msa&ty=f&p=CERU_HUMAN&rb=932&re=1060&var=L993V	tolerated(0.47)				YES	CP,missense_variant,p.Leu993Val,ENST00000264613,NM_000096.3;CP,missense_variant,p.Leu776Val,ENST00000494544,;CP,missense_variant,p.Leu128Val,ENST00000479771,;HPS3,downstream_gene_variant,,ENST00000296051,NM_032383.3;CP,missense_variant,p.Leu922Val,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;CP,non_coding_transcript_exon_variant,,ENST00000460674,;CP,non_coding_transcript_exon_variant,,ENST00000463556,;CP,non_coding_transcript_exon_variant,,ENST00000473296,;HPS3,downstream_gene_variant,,ENST00000460822,;CP,upstream_gene_variant,,ENST00000474204,;							MODERATE	2977/3198	L993V	CERU_HUMAN			Transcript		benign(0.1)	.	ENSP00000264613		CCDS3141.1			1	
ACADSB	0	LGGM	GRCh37	10	124802606	124802606	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	66	25	.	.	ENST00000358776.4:c.726G>T	p.Pro242=	p.P242=	ENST00000358776	NM_001609.3	242	ccG/ccT	0	1	1	UPI00001251DF	0		ENST00000358776		ENSG00000196177	91		91			HGNC	p.P140P	rs148114788	ACADSB		SNV	A:0		1				ENST00000368869	protein_coding		A:0	hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF212,Gene3D:2.40.110.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645		P	A:0.0001	T		740/5859	1.50E-05			B4DQ51_HUMAN	A:0.0014	A:0	YES	ACADSB,synonymous_variant,p.=,ENST00000358776,NM_001609.3;ACADSB,synonymous_variant,p.=,ENST00000368869,;ACADSB,downstream_gene_variant,,ENST00000411816,;ACADSB,non_coding_transcript_exon_variant,,ENST00000496730,;		A:0.0002					LOW	726/1299		ACDSB_HUMAN		A:0	Transcript			.	ENSP00000357873	8.24E-06	CCDS7634.1		A:0	1	
ERBB2IP	0	LGGM	GRCh37	5	65370901	65370901	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	56	26	.	.	ENST00000506030.1:c.3827A>G	p.Asn1276Ser	p.N1276S	ENST00000506030		1276	aAt/aGt	0	1		UPI000013C941	0	NA	ENST00000284037		ENSG00000112851	15842		82	0.895		HGNC	p.N1228S		ERBB2IP		SNV							ENST00000380938	protein_coding	getma.org/?cm=var&var=hg19,5,65370901,A,G&fts=all				N/S		G	low	4195/8647		getma.org/?cm=msa&ty=f&p=LAP2_HUMAN&rb=1192&re=1320&var=N1269S	tolerated(0.41)					ERBB2IP,missense_variant,p.Asn1269Ser,ENST00000284037,NM_001253697.1;ERBB2IP,missense_variant,p.Asn1228Ser,ENST00000380936,;ERBB2IP,missense_variant,p.Asn1228Ser,ENST00000380943,NM_001253699.1,NM_001253701.1,NM_018695.3;ERBB2IP,missense_variant,p.Asn1228Ser,ENST00000380938,NM_001253698.1;ERBB2IP,missense_variant,p.Asn1276Ser,ENST00000506030,;ERBB2IP,missense_variant,p.Asn1224Ser,ENST00000511297,;ERBB2IP,missense_variant,p.Asn467Ser,ENST00000416865,;ERBB2IP,missense_variant,p.Asn106Ser,ENST00000512354,;ERBB2IP,splice_region_variant,,ENST00000380939,;ERBB2IP,intron_variant,,ENST00000380935,NM_001006600.2;ERBB2IP,intron_variant,,ENST00000508515,;ERBB2IP,downstream_gene_variant,,ENST00000511671,;ERBB2IP,intron_variant,,ENST00000503913,;ERBB2IP,upstream_gene_variant,,ENST00000506744,;ERBB2IP,upstream_gene_variant,,ENST00000509946,;ERBB2IP,upstream_gene_variant,,ENST00000505822,;							MODERATE	3806/4239	N1269S	LAP2_HUMAN			Transcript		benign(0.375)	.	ENSP00000284037		CCDS58953.1			1	
ARHGAP28	0	LGGM	GRCh37	18	6824883	6824883	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	38	26	.	.	ENST00000262227.3:c.89G>A	p.Trp30Ter	p.W30*	ENST00000262227		30	tGg/tAg	0	1		UPI0001E5E846	0		ENST00000383472		ENSG00000088756	25509		64			HGNC	p.W30X		ARHGAP28		SNV							ENST00000532723	protein_coding			hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5		W/*		A		349/2295				J3KTC0_HUMAN,E9PL26_HUMAN				ARHGAP28,stop_gained,p.Trp30Ter,ENST00000262227,;ARHGAP28,stop_gained,p.Trp82Ter,ENST00000400091,;ARHGAP28,stop_gained,p.Trp82Ter,ENST00000383472,;ARHGAP28,stop_gained,p.Trp30Ter,ENST00000532723,;ARHGAP28,stop_gained,p.Trp47Ter,ENST00000583410,;ARHGAP28,stop_gained,p.Trp55Ter,ENST00000584387,;							HIGH	245/2190		RHG28_HUMAN			Transcript			.	ENSP00000372964					1	
NBAS	0	LGGM	GRCh37	2	15564585	15564585	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	30	26	.	.	ENST00000281513.5:c.2431G>T	p.Val811Phe	p.V811F	ENST00000281513	NM_015909.3	811	Gtt/Ttt	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		56	1.5		HGNC	p.V811F		NBAS		SNV			1				ENST00000281513	protein_coding	getma.org/?cm=var&var=hg19,2,15564585,C,A&fts=all		Pfam_domain:PF08314,hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		V/F		A	low	2457/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=725&re=1379&var=V811F	deleterious(0.04)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.Val811Phe,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Val811Phe,ENST00000441750,;NBAS,upstream_gene_variant,,ENST00000442506,;NBAS,upstream_gene_variant,,ENST00000441755,;							MODERATE	2431/7116	V811F	NBAS_HUMAN			Transcript		benign(0.303)	.	ENSP00000281513		CCDS1685.1			1	
FN3KRP	0	LGGM	GRCh37	17	80676835	80676835	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	29	26	.	.	ENST00000269373.6:c.195A>G	p.Thr65=	p.T65=	ENST00000269373	NM_024619.3	65	acA/acG	0	1	1	UPI000006F7D6	0		ENST00000269373		ENSG00000141560	25700		55			HGNC	p.T15T		FN3KRP		SNV							ENST00000535965	protein_coding			hmmpanther:PTHR12149:SF6,hmmpanther:PTHR12149,Pfam_domain:PF03881,PIRSF_domain:PIRSF006221,Superfamily_domains:SSF56112		T		G		268/1849				I3L378_HUMAN,F5H4E4_HUMAN			YES	FN3KRP,synonymous_variant,p.=,ENST00000269373,NM_024619.3;FN3KRP,synonymous_variant,p.=,ENST00000535965,;FN3KRP,synonymous_variant,p.=,ENST00000577128,;FN3KRP,intron_variant,,ENST00000573158,;RP11-388C12.1,upstream_gene_variant,,ENST00000574471,;FN3KRP,synonymous_variant,p.=,ENST00000574356,;FN3KRP,synonymous_variant,p.=,ENST00000574206,;FN3KRP,3_prime_UTR_variant,,ENST00000574832,;FN3KRP,upstream_gene_variant,,ENST00000576363,;FN3KRP,upstream_gene_variant,,ENST00000571482,;							LOW	195/930		KT3K_HUMAN			Transcript			.	ENSP00000269373		CCDS11817.1			1	
GRM8	0	LGGM	GRCh37	7	126086172	126086172	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	52	26	.	.	ENST00000339582.2:c.2677+8A>G		p.X893_splice	ENST00000339582				0	1	1	UPI000012F085	0		ENST00000339582		ENSG00000179603	4600		78			HGNC	p.S895S		GRM8		SNV							ENST00000358373	protein_coding							C		-/4057				E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,splice_region_variant,,ENST00000339582,;GRM8,splice_region_variant,,ENST00000444921,NM_000845.2;GRM8,synonymous_variant,p.=,ENST00000358373,NM_001127323.1;GRM8,splice_region_variant,,ENST00000489939,;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,splice_region_variant,,ENST00000341617,;GRM8,synonymous_variant,p.=,ENST00000472701,;							LOW	-/2727		GRM8_HUMAN			Transcript			.	ENSP00000344173		CCDS5794.1			1	
PCDHB1	0	LGGM	GRCh37	5	140432943	140432943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	41	28	.	.	ENST00000306549.3:c.1888C>A	p.Gln630Lys	p.Q630K	ENST00000306549	NM_013340.2	630	Cag/Aag	0	1	1	UPI000013EB56	0	NA	ENST00000306549		ENSG00000171815	8680		69	-0.08		HGNC	p.Q630K		PCDHB1		SNV							ENST00000306549	protein_coding	getma.org/?cm=var&var=hg19,5,140432943,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,SMART_domains:SM00112,Superfamily_domains:SSF49313		Q/K		A	neutral	1965/2534		getma.org/?cm=msa&ty=f&p=PCDB1_HUMAN&rb=577&re=664&var=Q630K	tolerated(0.09)				YES	PCDHB1,missense_variant,p.Gln630Lys,ENST00000306549,NM_013340.2;							MODERATE	1888/2457	Q630K	PCDB1_HUMAN			Transcript		benign(0.003)	.	ENSP00000307234		CCDS4243.1			1	
TOPBP1	0	LGGM	GRCh37	3	133347556	133347556	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	60	29	.	.	ENST00000260810.5:c.2542A>T	p.Thr848Ser	p.T848S	ENST00000260810	NM_007027.3	848	Act/Tct	0	1	1	UPI000020A292	0	NA	ENST00000260810		ENSG00000163781	17008		89	0.695		HGNC	p.T848S		TOPBP1		SNV							ENST00000260810	protein_coding	getma.org/?cm=var&var=hg19,3,133347556,T,A&fts=all		hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561,Superfamily_domains:SSF48201		T/S		A	neutral	2674/5378		getma.org/?cm=msa&ty=f&p=TOPB1_HUMAN&rb=726&re=899&var=T848S	tolerated(0.22)	A0AV47_HUMAN			YES	TOPBP1,missense_variant,p.Thr848Ser,ENST00000260810,NM_007027.3;TOPBP1,non_coding_transcript_exon_variant,,ENST00000506779,;TOPBP1,upstream_gene_variant,,ENST00000513818,;							MODERATE	2542/4569	T848S	TOPB1_HUMAN			Transcript		benign(0.021)	.	ENSP00000260810		CCDS46919.1			1	
SMARCAL1	0	LGGM	GRCh37	2	217343022	217343022	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	64	29	.	.	ENST00000357276.4:c.2625G>C	p.Lys875Asn	p.K875N	ENST00000357276	NM_014140.3	875	aaG/aaC	0	1	1	UPI000000DA30	0	NA	ENST00000357276		ENSG00000138375	11102		93	1.845		HGNC	p.K875N		SMARCAL1		SNV			1				ENST00000357276	protein_coding	getma.org/?cm=var&var=hg19,2,217343022,G,C&fts=all		hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799		K/N		C	low	2955/3271		getma.org/?cm=msa&ty=f&p=SMAL1_HUMAN&rb=823&re=954&var=K875N	deleterious(0.04)	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN			YES	SMARCAL1,missense_variant,p.Lys875Asn,ENST00000357276,NM_014140.3;SMARCAL1,missense_variant,p.Lys875Asn,ENST00000358207,NM_001127207.1;SMARCAL1,missense_variant,p.Lys717Asn,ENST00000392128,;AC098820.4,downstream_gene_variant,,ENST00000414135,;AC098820.3,downstream_gene_variant,,ENST00000453157,;							MODERATE	2625/2865	K875N	SMAL1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000349823		CCDS2403.1			1	
ANKRD42	0	LGGM	GRCh37	11	82909649	82909649	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	52	29	.	.	ENST00000393392.2:c.138+49C>T		*46*	ENST00000393392	NM_182603.2			0	1	1	UPI000013D0A8	0		ENST00000393392		ENSG00000137494	26752		81			HGNC	p.P63S		ANKRD42		SNV							ENST00000533342	protein_coding							T		-/2302							YES	ANKRD42,missense_variant,p.Pro63Ser,ENST00000393389,;ANKRD42,missense_variant,p.Pro63Ser,ENST00000526731,;ANKRD42,missense_variant,p.Pro63Ser,ENST00000260047,;ANKRD42,missense_variant,p.Pro63Ser,ENST00000533342,;ANKRD42,missense_variant,p.Pro63Ser,ENST00000531895,;ANKRD42,5_prime_UTR_variant,,ENST00000528722,;ANKRD42,intron_variant,,ENST00000393392,NM_182603.2;RP11-727A23.5,upstream_gene_variant,,ENST00000500634,;RP11-727A23.5,upstream_gene_variant,,ENST00000528524,;RP11-727A23.5,upstream_gene_variant,,ENST00000528083,;RP11-727A23.5,upstream_gene_variant,,ENST00000529811,;							MODIFIER	-/1170		ANR42_HUMAN			Transcript			.	ENSP00000377051		CCDS8265.1			1	
SLC6A9	0	LGGM	GRCh37	1	44467232	44467232	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	42	29	.	.	ENST00000360584.2:c.1249A>T	p.Ile417Phe	p.I417F	ENST00000360584	NM_201649.3	417	Atc/Ttc	0	1	1	UPI000053030B	0	getma.org/pdb.php?prot=SC6A9_HUMAN&from=100&to=635&var=I417F	ENST00000360584		ENSG00000196517	11056		71	1.73		HGNC	p.I344F		SLC6A9		SNV							ENST00000372310	protein_coding	getma.org/?cm=var&var=hg19,1,44467232,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF110,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		I/F		A	low	1441/2330		getma.org/?cm=msa&ty=f&p=SC6A9_HUMAN&rb=100&re=635&var=I417F	tolerated(0.07)	B7Z589_HUMAN			YES	SLC6A9,missense_variant,p.Ile344Phe,ENST00000372310,NM_001024845.2;SLC6A9,missense_variant,p.Ile417Phe,ENST00000360584,NM_201649.3;SLC6A9,missense_variant,p.Ile363Phe,ENST00000357730,NM_006934.3,NM_001261380.1;SLC6A9,missense_variant,p.Ile279Phe,ENST00000372307,;SLC6A9,missense_variant,p.Ile344Phe,ENST00000372306,;SLC6A9,missense_variant,p.Ile233Phe,ENST00000475075,;SLC6A9,missense_variant,p.Ile279Phe,ENST00000537678,;							MODERATE	1249/2121	I417F	SC6A9_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000353791		CCDS41317.1			1	
DTX3L	0	LGGM	GRCh37	3	122288781	122288781	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	43	29	.	.	ENST00000296161.4:c.1845G>T	p.Met615Ile	p.M615I	ENST00000296161	NM_138287.3	615	atG/atT	0	1	1	UPI000000D9D0	0	getma.org/pdb.php?prot=DTX3L_HUMAN&from=602&to=740&var=M615I	ENST00000296161		ENSG00000163840	30323		72	3.595		HGNC	p.M615I		DTX3L		SNV							ENST00000296161	protein_coding	getma.org/?cm=var&var=hg19,3,122288781,G,T&fts=all		hmmpanther:PTHR12622:SF23,hmmpanther:PTHR12622,Superfamily_domains:SSF57850		M/I		T	high	2034/5868		getma.org/?cm=msa&ty=f&p=DTX3L_HUMAN&rb=602&re=740&var=M615I	deleterious(0)				YES	DTX3L,missense_variant,p.Met615Ile,ENST00000296161,NM_138287.3;DTX3L,intron_variant,,ENST00000383661,;							MODERATE	1845/2223	M615I	DTX3L_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000296161		CCDS3015.1			1	
ESYT3	0	LGGM	GRCh37	3	138191354	138191354	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	50	32	.	.	ENST00000389567.4:c.1890C>A	p.Pro630=	p.P630=	ENST00000389567	NM_031913.3	630	ccC/ccA	0	1	1	UPI0000251E45	0		ENST00000389567		ENSG00000158220	24295		82			HGNC	p.P630P		ESYT3		SNV							ENST00000389567	protein_coding			hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF27		P		A		2076/4407							YES	ESYT3,synonymous_variant,p.=,ENST00000389567,NM_031913.3;ESYT3,upstream_gene_variant,,ENST00000460133,;ESYT3,3_prime_UTR_variant,,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;ESYT3,upstream_gene_variant,,ENST00000460325,;ESYT3,downstream_gene_variant,,ENST00000468103,;							LOW	1890/2661		ESYT3_HUMAN			Transcript			.	ENSP00000374218		CCDS3101.2			1	
C12orf55	0	LGGM	GRCh37	12	97073461	97073461	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	42	32	.	.	ENST00000524981.4:c.5647T>C	p.Ser1883Pro	p.S1883P	ENST00000524981		1883	Tcc/Ccc	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		74	2.045		HGNC	p.S1883P		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97073461,T,C&fts=all				S/P		C	medium	5670/9766		getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1780&re=1979&var=S1883P	deleterious(0.01)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Ser1883Pro,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	5647/9291	S1883P				Transcript		benign(0.031)	.	ENSP00000431759					1	
OAS3	0	LGGM	GRCh37	12	113405884	113405884	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	47	32	.	.	ENST00000228928.7:c.3009C>G	p.Thr1003=	p.T1003=	ENST00000228928	NM_006187.2	1003	acC/acG	0	1	1	UPI000034ECD3	0		ENST00000228928		ENSG00000111331	8088		79			HGNC	p.T1003T		OAS3		SNV							ENST00000228928	protein_coding			hmmpanther:PTHR11258:SF4,hmmpanther:PTHR11258,Pfam_domain:PF10421,Gene3D:1px5A02,Superfamily_domains:SSF81631		T		G		3188/6719							YES	OAS3,synonymous_variant,p.=,ENST00000228928,NM_006187.2;OAS3,downstream_gene_variant,,ENST00000546973,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,upstream_gene_variant,,ENST00000549918,;							LOW	3009/3264		OAS3_HUMAN			Transcript			.	ENSP00000228928		CCDS44981.1			1	
CHRNA1	0	LGGM	GRCh37	2	175618235	175618235	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	78	32	.	.	ENST00000261007.5:c.849C>T	p.Asp283=	p.D283=	ENST00000261007	NM_001039523.2	283	gaC/gaT	0	1	1	UPI000012524E	0		ENST00000261007		ENSG00000138435	1955		110			HGNC	p.D258D		CHRNA1		SNV			1				ENST00000348749	protein_coding			hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112		D		A		916/1980				A9X444_HUMAN			YES	CHRNA1,synonymous_variant,p.=,ENST00000348749,NM_000079.3;CHRNA1,synonymous_variant,p.=,ENST00000261007,NM_001039523.2;CHRNA1,synonymous_variant,p.=,ENST00000409323,;CHRNA1,synonymous_variant,p.=,ENST00000409219,;CHRNA1,synonymous_variant,p.=,ENST00000409542,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,3_prime_UTR_variant,,ENST00000435083,;							LOW	849/1449		ACHA_HUMAN			Transcript			.	ENSP00000261007		CCDS33331.1			1	
GNB4	0	LGGM	GRCh37	3	179137254	179137254	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	56	34	.	.	ENST00000232564.3:c.136C>T	p.Arg46Ter	p.R46*	ENST00000232564	NM_021629.3	46	Cga/Tga	0	1	1	UPI000012B21A	0	NA	ENST00000232564		ENSG00000114450	20731		90	0		HGNC	p.R46X		GNB4		SNV			1				ENST00000497513	protein_coding	getma.org/?cm=var&var=hg19,3,179137254,G,A&fts=all		hmmpanther:PTHR19850:SF28,hmmpanther:PTHR19850,Gene3D:2.130.10.10,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/*		A	NA	423/3321		NA		C9JD14_HUMAN,B4DLV5_HUMAN			YES	GNB4,stop_gained,p.Arg46Ter,ENST00000232564,NM_021629.3;GNB4,stop_gained,p.Arg46Ter,ENST00000468623,;GNB4,stop_gained,p.Arg46Ter,ENST00000497513,;GNB4,upstream_gene_variant,,ENST00000466899,;							HIGH	136/1023	R46*	GBB4_HUMAN			Transcript			.	ENSP00000232564		CCDS3230.1			1	
CDH8	0	LGGM	GRCh37	16	61687910	61687910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	45	35	.	.	ENST00000577390.1:c.2002G>T	p.Asp668Tyr	p.D668Y	ENST00000577390	NM_001796.4	668	Gat/Tat	0	1	1	UPI0000126D9F	0	NA	ENST00000577390		ENSG00000150394	1767		80	3.215		HGNC	p.D668Y		CDH8		SNV							ENST00000299345	protein_coding	getma.org/?cm=var&var=hg19,16,61687910,C,A&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,Low_complexity_(Seg):seg		D/Y		A	medium	2957/9721		getma.org/?cm=msa&ty=f&p=CADH8_HUMAN&rb=645&re=793&var=D668Y	deleterious(0)	J3KTG8_HUMAN,J3KT81_HUMAN			YES	CDH8,missense_variant,p.Asp668Tyr,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Asp668Tyr,ENST00000577730,;CDH8,missense_variant,p.Asp668Tyr,ENST00000299345,;CDH8,downstream_gene_variant,,ENST00000583483,;CDH8,3_prime_UTR_variant,,ENST00000585315,;							MODERATE	2002/2400	D668Y	CADH8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000462701		CCDS10802.1			1	
EPHA6	0	LGGM	GRCh37	3	97194305	97194305	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	74	36	.	.	ENST00000389672.5:c.2003+1G>T		p.X668_splice	ENST00000389672	NM_001080448.2			0	1	1	UPI000004BB12	0		ENST00000389672		ENSG00000080224	19296		110			HGNC	-		EPHA6		SNV							ENST00000389672	protein_coding							T		-/3971				H0Y8K5_HUMAN			YES	EPHA6,splice_donor_variant,,ENST00000389672,NM_001080448.2;EPHA6,splice_donor_variant,,ENST00000514100,NM_001278300.1;EPHA6,splice_donor_variant,,ENST00000502694,NM_173655.3;EPHA6,splice_donor_variant,,ENST00000442602,;EPHA6,splice_donor_variant,,ENST00000477384,;EPHA6,splice_donor_variant,,ENST00000503760,;EPHA6,splice_donor_variant,,ENST00000508345,;							HIGH	2003/3393					Transcript			.	ENSP00000374323		CCDS46876.1			1	
PTCH2	0	LGGM	GRCh37	1	45292628	45292628	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	73	36	.	.	ENST00000372192.3:c.2641C>T	p.Pro881Ser	p.P881S	ENST00000372192	NM_003738.4	881	Cca/Tca	0	1	1	UPI00001328B8	0	NA	ENST00000372192		ENSG00000117425	9586		109	0.755		HGNC	p.P881S		PTCH2		SNV			1				ENST00000372192	protein_coding	getma.org/?cm=var&var=hg19,1,45292628,G,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62,TIGRFAM_domain:TIGR00918		P/S		A	neutral	2772/4225		getma.org/?cm=msa&ty=f&p=PTC2_HUMAN&rb=771&re=900&var=P881S	tolerated(0.45)				YES	PTCH2,missense_variant,p.Pro881Ser,ENST00000447098,NM_001166292.1;PTCH2,missense_variant,p.Pro881Ser,ENST00000372192,NM_003738.4;PTCH2,upstream_gene_variant,,ENST00000438067,;							MODERATE	2641/3612	P881S	PTC2_HUMAN			Transcript		benign(0.109)	.	ENSP00000361266		CCDS516.1			1	
MUC16	0	LGGM	GRCh37	19	9075841	9075841	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072749	H072749N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	54	37	.	.	ENST00000397910.4:c.11605T>C	p.Trp3869Arg	p.W3869R	ENST00000397910	NM_024690.2	3869	Tgg/Cgg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		91	0		HGNC	p.W3869R		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9075841,A,G&fts=all				W/R		G	neutral	11809/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=W3870R		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Trp3869Arg,ENST00000397910,NM_024690.2;							MODERATE	11605/43524	W3870R				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
TBR1	0	LGGM	GRCh37	2	162275558	162275558	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	27	37	.	.	ENST00000389554.3:c.1125G>T	p.Thr375=	p.T375=	ENST00000389554	NM_006593.2	375	acG/acT	0	1	1	UPI0000136A99	0		ENST00000389554		ENSG00000136535	11590		64			HGNC	p.T375T		TBR1		SNV			1				ENST00000389554	protein_coding			PROSITE_profiles:PS50252,hmmpanther:PTHR11267:SF88,hmmpanther:PTHR11267,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937		T		T		1442/4009				Q56A81_HUMAN,B0AZS4_HUMAN			YES	TBR1,synonymous_variant,p.=,ENST00000389554,NM_006593.2;TBR1,synonymous_variant,p.=,ENST00000410035,;TBR1,synonymous_variant,p.=,ENST00000411412,;AC009487.5,upstream_gene_variant,,ENST00000505579,;AC009487.4,downstream_gene_variant,,ENST00000444164,;AC009487.4,downstream_gene_variant,,ENST00000437683,;TBR1,upstream_gene_variant,,ENST00000489530,;TBR1,upstream_gene_variant,,ENST00000477804,;TBR1,non_coding_transcript_exon_variant,,ENST00000463544,;							LOW	1125/2049		TBR1_HUMAN			Transcript			.	ENSP00000374205		CCDS33310.1			1	
EPHA6	0	LGGM	GRCh37	3	97194304	97194304	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	74	37	.	.	ENST00000389672.5:c.2003G>A	p.Arg668Lys	p.R668K	ENST00000389672	NM_001080448.2	668	aGa/aAa	0	1	1	UPI000004BB12	0	NA	ENST00000389672		ENSG00000080224	19296		111	0.895		HGNC	p.R34K		EPHA6		SNV							ENST00000508345	protein_coding	getma.org/?cm=var&var=hg19,3,97194304,G,A&fts=all		Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24		R/K		A	low	2041/3971		getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=527&re=629&var=R573K	tolerated(0.05)	H0Y8K5_HUMAN			YES	EPHA6,missense_variant,p.Arg668Lys,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Arg60Lys,ENST00000514100,NM_001278300.1;EPHA6,missense_variant,p.Arg60Lys,ENST00000502694,NM_173655.3;EPHA6,missense_variant,p.Arg34Lys,ENST00000442602,;EPHA6,missense_variant,p.Arg34Lys,ENST00000477384,;EPHA6,missense_variant,p.Arg60Lys,ENST00000503760,;EPHA6,missense_variant,p.Arg34Lys,ENST00000508345,;							MODERATE	2003/3393	R573K				Transcript		possibly_damaging(0.528)	.	ENSP00000374323		CCDS46876.1			1	
SYNE2	0	LGGM	GRCh37	14	64416659	64416659	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	49	40	.	.	ENST00000358025.3:c.525G>T	p.Val175=	p.V175=	ENST00000358025	NM_182914.2	175	gtG/gtT	0	1		UPI00001B0452	0		ENST00000344113		ENSG00000054654	17084		89			HGNC	p.V175V		SYNE2		SNV			1				ENST00000554584	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,Low_complexity_(Seg):seg		V		T		737/21777				Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,synonymous_variant,p.=,ENST00000341472,;SYNE2,synonymous_variant,p.=,ENST00000356081,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;							LOW	525/20658		SYNE2_HUMAN			Transcript			.	ENSP00000341781		CCDS41963.1			1	
JMJD1C	0	LGGM	GRCh37	10	64967913	64967913	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	81	43	.	.	ENST00000399262.2:c.3516A>C	p.Ala1172=	p.A1172=	ENST00000399262	NM_032776.1	1172	gcA/gcC	0	1	1	UPI0000198BEF	0		ENST00000399262		ENSG00000171988	12313		124			HGNC	p.A953A		JMJD1C		SNV			1				ENST00000402544	protein_coding			hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6		A		G		3735/8666							YES	JMJD1C,synonymous_variant,p.=,ENST00000399262,NM_032776.1;JMJD1C,synonymous_variant,p.=,ENST00000399251,;JMJD1C,synonymous_variant,p.=,ENST00000402544,NM_004241.2;JMJD1C,synonymous_variant,p.=,ENST00000542921,NM_001282948.1;JMJD1C,upstream_gene_variant,,ENST00000327520,;							LOW	3516/7623		JHD2C_HUMAN			Transcript			.	ENSP00000382204		CCDS41532.1			1	
TSHZ2	0	LGGM	GRCh37	20	51872697	51872697	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	26	53	.	.	ENST00000371497.5:c.2700G>A	p.Leu900=	p.L900=	ENST00000371497	NM_173485.5	900	ctG/ctA	0	1	1	UPI0000206747	0		ENST00000371497		ENSG00000182463	13010		79			HGNC	p.L897L		TSHZ2		SNV							ENST00000329613	protein_coding			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487,SMART_domains:SM00389		L		A		3587/12187				S4R3C8_HUMAN			YES	TSHZ2,synonymous_variant,p.=,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,synonymous_variant,p.=,ENST00000603338,;TSHZ2,synonymous_variant,p.=,ENST00000329613,;RP4-678D15.1,non_coding_transcript_exon_variant,,ENST00000606932,;TSHZ2,synonymous_variant,p.=,ENST00000605656,;							LOW	2700/3105		TSH2_HUMAN			Transcript			.	ENSP00000360552		CCDS33490.1			1	
PWWP2A	0	LGGM	GRCh37	5	159520771	159520771	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	65	57	.	.	ENST00000307063.7:c.886C>T	p.Arg296Ter	p.R296*	ENST00000307063	NM_001130864.1	296	Cga/Tga	0	1	1	UPI0000EE3692	0	NA	ENST00000307063		ENSG00000170234	29406		122	0		HGNC	p.R296X	COSM3853308,COSM3853306,COSM3853307	PWWP2A		SNV						1,1,1	ENST00000523662	protein_coding	getma.org/?cm=var&var=hg19,5,159520771,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF4		R/*		A	NA	921/3343		NA					YES	PWWP2A,stop_gained,p.Arg296Ter,ENST00000456329,NM_052927.2;PWWP2A,stop_gained,p.Arg296Ter,ENST00000307063,NM_001130864.1;PWWP2A,stop_gained,p.Arg296Ter,ENST00000523662,NM_001267035.1;PWWP2A,3_prime_UTR_variant,,ENST00000520662,;PWWP2A,upstream_gene_variant,,ENST00000524050,;PWWP2A,upstream_gene_variant,,ENST00000521424,;					1,1,1		HIGH	886/2268	R296*	PWP2A_HUMAN			Transcript			.	ENSP00000305151		CCDS47332.1			1	
EML6	0	LGGM	GRCh37	2	55090975	55090975	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	46	57	.	.	ENST00000356458.6:c.1881C>G	p.Pro627=	p.P627=	ENST00000356458	NM_001039753.2	627	ccC/ccG	0	1	1	UPI00006C0432	0		ENST00000356458		ENSG00000214595	35412		103			HGNC	p.P627P		EML6		SNV							ENST00000356458	protein_coding			hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,Low_complexity_(Seg):seg		P		G		2401/8320							YES	EML6,synonymous_variant,p.=,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000493997,;							LOW	1881/5877		EMAL6_HUMAN			Transcript			.	ENSP00000348842		CCDS46286.1			1	
XIRP2	0	LGGM	GRCh37	2	168103471	168103471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	38	58	.	.	ENST00000409195.1:c.5569G>T	p.Val1857Leu	p.V1857L	ENST00000409195	NM_152381.5	1857	Gtg/Ttg	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		96	2.125		HGNC	p.V1635L		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168103471,G,T&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		V/L		T	medium	5658/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1561&re=1693&var=V1682L		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Val1857Leu,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Val1857Leu,ENST00000295237,;XIRP2,missense_variant,p.Val1635Leu,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;							MODERATE	5569/10650	V1682L				Transcript		benign(0.041)	.	ENSP00000386840		CCDS42769.1			1	
NMNAT1	0	LGGM	GRCh37	1	10032144	10032144	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072749	H072749N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	109	61	.	.	ENST00000377205.1:c.13G>T	p.Glu5Ter	p.E5*	ENST00000377205	NM_022787.3	5	Gag/Tag	0	1	1	UPI0000041261	0	NA	ENST00000377205		ENSG00000173614	17877		170	0		HGNC	p.E5X		NMNAT1		SNV			1				ENST00000377205	protein_coding	getma.org/?cm=var&var=hg19,1,10032144,G,T&fts=all		Gene3D:3.40.50.620,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF3		E/*		T	NA	157/3781		NA					YES	NMNAT1,stop_gained,p.Glu5Ter,ENST00000377205,NM_022787.3;NMNAT1,stop_gained,p.Glu5Ter,ENST00000403197,;MIR5697,downstream_gene_variant,,ENST00000578045,;NMNAT1,non_coding_transcript_exon_variant,,ENST00000492735,;NMNAT1,stop_gained,p.Glu5Ter,ENST00000462686,;							HIGH	13/840	E5*	NMNA1_HUMAN			Transcript			.	ENSP00000366410		CCDS108.1			1	
CDHR1	0	LGGM	GRCh37	10	85971414	85971414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	36	69	.	.	ENST00000372117.3:c.1496C>A	p.Pro499Gln	p.P499Q	ENST00000372117	NM_033100.3	499	cCa/cAa	0	1	1	UPI0000161C2F	0	getma.org/pdb.php?prot=CDHR1_HUMAN&from=477&to=567&var=P499Q	ENST00000372117		ENSG00000148600	14550		105	1.705		HGNC	p.P499Q		CDHR1		SNV			1				ENST00000332904	protein_coding	getma.org/?cm=var&var=hg19,10,85971414,C,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		P/Q		A	low	1599/5428		getma.org/?cm=msa&ty=f&p=CDHR1_HUMAN&rb=477&re=567&var=P499Q	tolerated(0.08)	F1T0L2_HUMAN			YES	CDHR1,missense_variant,p.Pro499Gln,ENST00000372117,NM_033100.3;CDHR1,missense_variant,p.Pro203Gln,ENST00000440770,;CDHR1,missense_variant,p.Pro499Gln,ENST00000332904,NM_001171971.2;CDHR1,upstream_gene_variant,,ENST00000459673,;							MODERATE	1496/2580	P499Q	CDHR1_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000361189		CCDS7372.1			1	
ITSN2	0	LGGM	GRCh37	2	24522972	24522972	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	67	79	.	.	ENST00000355123.4:c.1150del	p.Ala384ProfsTer2	p.A384Pfs*2	ENST00000355123	NM_006277.2	384	Gcc/cc	0	1	1	UPI000013D415	0		ENST00000355123		ENSG00000198399	6184		146			HGNC	p.A384fs		ITSN2		deletion							ENST00000355123	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29		A/X		-		1594/6300				Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN			YES	ITSN2,frameshift_variant,p.Ala384ProfsTer2,ENST00000355123,NM_006277.2;ITSN2,frameshift_variant,p.Ala384ProfsTer2,ENST00000361999,NM_019595.3;ITSN2,frameshift_variant,p.Ala384ProfsTer2,ENST00000406921,NM_147152.2;ITSN2,frameshift_variant,p.Ala409ProfsTer2,ENST00000412011,;ITSN2,upstream_gene_variant,,ENST00000469848,;							HIGH	1150/5094		ITSN2_HUMAN			Transcript			.	ENSP00000347244		CCDS1710.2			1	
ZNF600	0	LGGM	GRCh37	19	53269301	53269301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072749	H072749N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	131	104	.	.	ENST00000338230.3:c.1708G>T	p.Val570Phe	p.V570F	ENST00000338230	NM_198457.2	570	Gtt/Ttt	0	1	1	UPI0000366E5E	0	getma.org/pdb.php?prot=ZN600_HUMAN&from=568&to=593&var=V570F	ENST00000338230		ENSG00000189190	30951		235	0.91		HGNC	p.V570F		ZNF600		SNV							ENST00000338230	protein_coding	getma.org/?cm=var&var=hg19,19,53269301,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF233,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/F		A	low	1976/3829		getma.org/?cm=msa&ty=f&p=ZN600_HUMAN&rb=548&re=613&var=V570F	deleterious(0.04)				YES	ZNF600,missense_variant,p.Val570Phe,ENST00000338230,NM_198457.2;							MODERATE	1708/2169	V570F	ZN600_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000344791		CCDS12856.1			1	
RYR2	0	LGGM	GRCh37	1	237890398	237890398	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072749	H072749N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072749N.bam, H072749T.bam	Illumina HiSeq	67	165	.	.	ENST00000366574.2:c.10737T>C	p.Pro3579=	p.P3579=	ENST00000366574	NM_001035.2	3579	ccT/ccC	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		232			HGNC	p.P3563P		RYR2		SNV			1				ENST00000542537	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		P		C		11054/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	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,;RYR2,non_coding_transcript_exon_variant,,ENST00000609253,;							LOW	10737/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
GNPAT	0	LGGM	GRCh37	1	231411917	231411917	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	14	2	.	.	ENST00000366647.4:c.1974C>A	p.Ala658=	p.A658=	ENST00000366647	NM_014236.3	658	gcC/gcA	0	1	1	UPI0000000A2A	0		ENST00000366647		ENSG00000116906	4416		16			HGNC	p.A597A		GNPAT		SNV			1				ENST00000366646	protein_coding			PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500063,hmmpanther:PTHR12563:SF9,hmmpanther:PTHR12563		A		A		2143/2643				Q71V38_HUMAN			YES	GNPAT,synonymous_variant,p.=,ENST00000366647,NM_014236.3;GNPAT,synonymous_variant,p.=,ENST00000366646,;GNPAT,downstream_gene_variant,,ENST00000416000,;GNPAT,non_coding_transcript_exon_variant,,ENST00000469332,;							LOW	1974/2043		GNPAT_HUMAN			Transcript			.	ENSP00000355607		CCDS1592.1			1	
LRRC24	0	LGGM	GRCh37	8	145748371	145748371	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	5	2	.	.	ENST00000529415.2:c.1030G>T	p.Glu344Ter	p.E344*	ENST00000529415		344	Gag/Tag	0	1	1	UPI0000419443	0	NA	ENST00000529415		ENSG00000254402	28947		7	0		HGNC	p.E344X		LRRC24		SNV							ENST00000529415	protein_coding	getma.org/?cm=var&var=hg19,8,145748371,C,A&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF255,PROSITE_profiles:PS50835		E/*		A	NA	1148/1758		NA					YES	LRRC24,stop_gained,p.Glu344Ter,ENST00000529415,;LRRC24,stop_gained,p.Glu341Ter,ENST00000533758,NM_001024678.3;LRRC14,3_prime_UTR_variant,,ENST00000292524,NM_014665.3,NM_001272036.1;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,;LRRC14,non_coding_transcript_exon_variant,,ENST00000528528,;LRRC14,upstream_gene_variant,,ENST00000529995,;LRRC14,upstream_gene_variant,,ENST00000530242,;C8orf82,downstream_gene_variant,,ENST00000534680,;LRRC14,downstream_gene_variant,,ENST00000531310,;							HIGH	1030/1542	E344*	LRC24_HUMAN			Transcript			.	ENSP00000434849		CCDS34969.1			1	
LIPC	0	LGGM	GRCh37	15	58834152	58834152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	7	2	.	.	ENST00000356113.6:c.442C>A	p.Leu148Ile	p.L148I	ENST00000356113		148	Ctc/Atc	0	1		UPI000013E54D	0	getma.org/pdb.php?prot=LIPC_HUMAN&from=15&to=349&var=L148I	ENST00000299022		ENSG00000166035	6619		9	0.725		HGNC	p.L148I		LIPC		SNV			1				ENST00000356113	protein_coding	getma.org/?cm=var&var=hg19,15,58834152,C,A&fts=all		hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF2,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821		L/I		A	neutral	677/1782		getma.org/?cm=msa&ty=f&p=LIPC_HUMAN&rb=15&re=349&var=L148I	tolerated(0.2)					LIPC,missense_variant,p.Leu148Ile,ENST00000414170,;LIPC,missense_variant,p.Leu148Ile,ENST00000356113,;LIPC,missense_variant,p.Leu148Ile,ENST00000299022,NM_000236.2;LIPC,intron_variant,,ENST00000433326,;LIPC,non_coding_transcript_exon_variant,,ENST00000559845,;LIPC,non_coding_transcript_exon_variant,,ENST00000560664,;							MODERATE	442/1500	L148I	LIPC_HUMAN			Transcript		benign(0.424)	.	ENSP00000299022		CCDS10166.1			1	
FAM49A	0	LGGM	GRCh37	2	16743311	16743311	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	38	2	.	.	ENST00000381323.3:c.397G>T	p.Glu133Ter	p.E133*	ENST00000381323	NM_030797.3	133	Gaa/Taa	0	1	1	UPI0000037BBB	0	NA	ENST00000381323		ENSG00000197872	25373		40	0		HGNC	p.E133X		FAM49A		SNV							ENST00000355549	protein_coding	getma.org/?cm=var&var=hg19,2,16743311,C,A&fts=all		Pfam_domain:PF07159,hmmpanther:PTHR12422,hmmpanther:PTHR12422:SF4		E/*		A	NA	618/4670		NA		Q53QW2_HUMAN,C9JPE5_HUMAN,C9IYV6_HUMAN,B3KRB1_HUMAN			YES	FAM49A,stop_gained,p.Glu133Ter,ENST00000381323,NM_030797.3;FAM49A,stop_gained,p.Glu133Ter,ENST00000406434,;FAM49A,stop_gained,p.Glu133Ter,ENST00000355549,;FAM49A,downstream_gene_variant,,ENST00000451689,;FAM49A,downstream_gene_variant,,ENST00000445605,;FAM49A,upstream_gene_variant,,ENST00000469507,;							HIGH	397/972	E133*	FA49A_HUMAN			Transcript			.	ENSP00000370724		CCDS1688.1			1	
CACNA1B	0	LGGM	GRCh37	9	140773612	140773613	+	splice_donor_variant	Splice_Site	INS	-	-	A	novel	by Submitter	H072777	H072777N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	4	3	.	.	ENST00000371372.1:c.390+1_390+2insA		p.X130_splice	ENST00000371372	NM_001243812.1			0	1	1	UPI0000127267	0		ENST00000371372		ENSG00000148408	1389	0.0277	7			HGNC	-	rs370237172,COSM1724480	CACNA1B	0.022	insertion				0.0256		0,1	ENST00000371372	protein_coding							A		-/9790	0.0256			Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN			YES	CACNA1B,splice_donor_variant,,ENST00000277549,;CACNA1B,splice_donor_variant,,ENST00000371372,NM_001243812.1,NM_000718.3;CACNA1B,splice_donor_variant,,ENST00000371363,;CACNA1B,splice_donor_variant,,ENST00000371355,;CACNA1B,splice_donor_variant,,ENST00000371357,;CACNA1B,splice_donor_variant,,ENST00000277551,;RP11-188C12.3,intron_variant,,ENST00000371390,;RP11-188C12.3,upstream_gene_variant,,ENST00000587008,;	0.0227				0,1		HIGH	390/7020		CAC1B_HUMAN	0.032		Transcript			common_variant	ENSP00000360423	0.0218	CCDS59522.1	0.0206		1	
CENPJ	0	LGGM	GRCh37	13	25481029	25481029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	32	3	.	.	ENST00000381884.4:c.1147G>T	p.Ala383Ser	p.A383S	ENST00000381884	NM_018451.4	383	Gct/Tct	0	1	1	UPI000013DC8A	0	NA	ENST00000381884		ENSG00000151849	17272		35	1.995		HGNC	p.A383S		CENPJ		SNV			1				ENST00000381884	protein_coding	getma.org/?cm=var&var=hg19,13,25481029,C,A&fts=all		hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF19		A/S		A	medium	1333/4347		getma.org/?cm=msa&ty=f&p=CENPJ_HUMAN&rb=1&re=599&var=A383S	tolerated(0.18)	B3KVU9_HUMAN			YES	CENPJ,missense_variant,p.Ala383Ser,ENST00000381884,NM_018451.4;CENPJ,missense_variant,p.Ala383Ser,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000418179,;							MODERATE	1147/4017	A383S	CENPJ_HUMAN			Transcript		possibly_damaging(0.505)	.	ENSP00000371308		CCDS9310.1			1	
IGKV3D-15	0	LGGM	GRCh37	2	90154106	90154106	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	42	3	.	.	ENST00000417279.2:c.193A>G	p.Arg65Gly	p.R65G	ENST00000417279		65	Agg/Ggg	0	1	1	UPI0000113B53	0		ENST00000417279		ENSG00000224041	5824		45			HGNC	p.R65G		IGKV3D-15		SNV							ENST00000417279	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		R/G		G		242/394			deleterious(0)				YES	IGKV3D-15,missense_variant,p.Arg65Gly,ENST00000417279,;							MODERATE	193/345					Transcript		possibly_damaging(0.889)	.	ENSP00000403672					1	
SLC35G3	0	LGGM	GRCh37	17	33521121	33521121	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	32	3	.	.	ENST00000297307.5:c.206C>A	p.Ser69Ter	p.S69*	ENST00000297307	NM_152462.2	69	tCg/tAg	0	1	1	UPI000006FEAB	0	NA	ENST00000297307		ENSG00000164729	26848		35	0		HGNC	p.S69X		SLC35G3		SNV							ENST00000297307	protein_coding	getma.org/?cm=var&var=hg19,17,33521121,G,T&fts=all		hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911,Pfam_domain:PF00892		S/*		T	NA	292/1874		NA					YES	SLC35G3,stop_gained,p.Ser69Ter,ENST00000297307,NM_152462.2;UNC45B,downstream_gene_variant,,ENST00000268876,NM_173167.2;UNC45B,downstream_gene_variant,,ENST00000433649,NM_001033576.1,NM_001267052.1;UNC45B,downstream_gene_variant,,ENST00000394570,;UNC45B,downstream_gene_variant,,ENST00000378449,;RP11-799D4.2,downstream_gene_variant,,ENST00000590144,;RP11-799D4.1,downstream_gene_variant,,ENST00000592961,;							HIGH	206/1017	S69*	S35G3_HUMAN			Transcript			.	ENSP00000297307		CCDS11293.1			1	
ASAP2	0	LGGM	GRCh37	2	9519143	9519143	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	31	3	.	.	ENST00000281419.3:c.1903G>A	p.Glu635Lys	p.E635K	ENST00000281419	NM_003887.2	635	Gag/Aag	0	1	1	UPI0000073459	0	getma.org/pdb.php?prot=ASAP2_HUMAN&from=620&to=652&var=E635K	ENST00000281419		ENSG00000151693	2721		34	2.075		HGNC	p.E635K	rs761659270	ASAP2		SNV							ENST00000281419	protein_coding	getma.org/?cm=var&var=hg19,2,9519143,G,A&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		E/K		A	medium	2243/5712	1.54E-05	getma.org/?cm=msa&ty=f&p=ASAP2_HUMAN&rb=620&re=652&var=E635K	deleterious(0)	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN			YES	ASAP2,missense_variant,p.Glu635Lys,ENST00000281419,NM_003887.2;ASAP2,missense_variant,p.Glu635Lys,ENST00000315273,NM_001135191.1;							MODERATE	1903/3021	E635K	ASAP2_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000281419	8.24E-06	CCDS1661.1			1	
PCDHB13	0	LGGM	GRCh37	5	140593722	140593722	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	3	.	.	ENST00000341948.4:c.27C>A	p.Cys9Ter	p.C9*	ENST00000341948	NM_018933.2	9	tgC/tgA	0	1	1	UPI0000047816	0	NA	ENST00000341948		ENSG00000187372	8684		22	0		HGNC	p.C9X		PCDHB13		SNV							ENST00000341948	protein_coding	getma.org/?cm=var&var=hg19,5,140593722,C,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,Cleavage_site_(Signalp):SignalP-noTM		C/*		A	NA	214/3485		NA					YES	PCDHB13,stop_gained,p.Cys9Ter,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;							HIGH	27/2397	C9*	PCDBD_HUMAN			Transcript			.	ENSP00000345491		CCDS4255.1			1	
CACNA1S	0	LGGM	GRCh37	1	201031205	201031205	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	5	3	.	.	ENST00000362061.3:c.2920G>A	p.Val974Met	p.V974M	ENST00000362061	NM_000069.2	974	Gtg/Atg	0	1	1	UPI000020471D	0	getma.org/pdb.php?prot=CAC1S_HUMAN&from=834&to=1064&var=V974M	ENST00000362061		ENSG00000081248	1397		8	2.805		HGNC	p.V974M	rs757840865	CACNA1S		SNV			1				ENST00000362061	protein_coding	getma.org/?cm=var&var=hg19,1,201031205,C,T&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190		V/M		T	medium	3147/6166	1.61E-05	getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=834&re=1064&var=V974M	tolerated(0.12)	Q13062_HUMAN,Q12966_HUMAN			YES	CACNA1S,missense_variant,p.Val974Met,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Val974Met,ENST00000367338,;							MODERATE	2920/5622	V974M	CAC1S_HUMAN			Transcript		benign(0.104)	.	ENSP00000355192	8.24E-06	CCDS1407.1			1	
SLC22A1	0	LGGM	GRCh37	6	160560691	160560691	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	3	.	.	ENST00000366963.4:c.1068G>A	p.Thr356=	p.T356=	ENST00000366963	NM_153187.1	356	acG/acA	0	1	1	UPI0000070FB1	0		ENST00000366963		ENSG00000175003	10963	0.000261	22			HGNC	p.T356T	rs568045730	SLC22A1	0.000121	SNV							ENST00000324965	protein_coding		T:0	Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF214,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Transmembrane_helices:TMhelix		T		A		1215/1948				F5GY86_HUMAN	T:0	T:0	YES	SLC22A1,synonymous_variant,p.=,ENST00000366963,NM_153187.1,NM_003057.2;SLC22A1,synonymous_variant,p.=,ENST00000324965,;SLC22A1,synonymous_variant,p.=,ENST00000457470,;SLC22A1,3_prime_UTR_variant,,ENST00000539263,;SLC22A1,intron_variant,,ENST00000460902,;		T:0.0002					LOW	1068/1665		S22A1_HUMAN		T:0	Transcript			.	ENSP00000355930	4.12E-05	CCDS5274.1		T:0.001	1	
GBP6	0	LGGM	GRCh37	1	89847387	89847387	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	23	4	.	.	ENST00000370456.4:c.1006C>G	p.Gln336Glu	p.Q336E	ENST00000370456	NM_198460.2	336	Cag/Gag	0	1	1	UPI00001D7DF5	0	getma.org/pdb.php?prot=GBP6_HUMAN&from=283&to=579&var=Q336E	ENST00000370456		ENSG00000183347	25395		27	-0.87		HGNC	p.Q336E		GBP6		SNV							ENST00000370456	protein_coding	getma.org/?cm=var&var=hg19,1,89847387,C,G&fts=all		Superfamily_domains:0037397,Gene3D:1f5nA01,Pfam_domain:PF02841,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF33		Q/E		G	neutral	1099/2987		getma.org/?cm=msa&ty=f&p=GBP6_HUMAN&rb=283&re=579&var=Q336E	tolerated(1)	F5H7G9_HUMAN			YES	GBP6,missense_variant,p.Gln336Glu,ENST00000370456,NM_198460.2;GBP6,missense_variant,p.Gln206Glu,ENST00000535065,;							MODERATE	1006/1902	Q336E	GBP6_HUMAN			Transcript		benign(0)	.	ENSP00000359485		CCDS723.1			1	
ARRB1	0	LGGM	GRCh37	11	74983950	74983950	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	15	4	.	.	ENST00000420843.2:c.987G>A	p.Val329=	p.V329=	ENST00000420843	NM_004041.4	329	gtG/gtA	0	1	1	UPI0000126076	0		ENST00000420843		ENSG00000137486	711		19			HGNC	p.V329V		ARRB1		SNV							ENST00000420843	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11792:SF22,hmmpanther:PTHR11792,Pfam_domain:PF02752,Gene3D:1g4mB02,SMART_domains:SM01017,Superfamily_domains:SSF81296		V		T		1085/3336							YES	ARRB1,synonymous_variant,p.=,ENST00000420843,NM_004041.4;ARRB1,synonymous_variant,p.=,ENST00000393505,;ARRB1,synonymous_variant,p.=,ENST00000360025,NM_020251.3;ARRB1,synonymous_variant,p.=,ENST00000532447,;ARRB1,downstream_gene_variant,,ENST00000532525,;ARRB1,non_coding_transcript_exon_variant,,ENST00000531012,;ARRB1,non_coding_transcript_exon_variant,,ENST00000529741,;							LOW	987/1257		ARRB1_HUMAN			Transcript			.	ENSP00000409581		CCDS44684.1			1	
CEP70	0	LGGM	GRCh37	3	138216884	138216884	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	25	4	.	.	ENST00000264982.3:c.1721T>C	p.Leu574Pro	p.L574P	ENST00000264982	NM_024491.2	574	cTt/cCt	0	1	1	UPI000013D5A3	0	NA	ENST00000264982		ENSG00000114107	29972		29	2.045		HGNC	p.L574P	rs760065622	CEP70		SNV							ENST00000264982	protein_coding	getma.org/?cm=var&var=hg19,3,138216884,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594		L/P		G	medium	1988/2732	1.50E-05	getma.org/?cm=msa&ty=f&p=CEP70_HUMAN&rb=340&re=595&var=L574P	deleterious(0)	C9JZ04_HUMAN,C9J0F4_HUMAN			YES	CEP70,missense_variant,p.Leu574Pro,ENST00000264982,NM_024491.2;CEP70,missense_variant,p.Leu554Pro,ENST00000542237,;CEP70,missense_variant,p.Leu556Pro,ENST00000474781,;CEP70,missense_variant,p.Leu574Pro,ENST00000484888,;CEP70,missense_variant,p.Leu422Pro,ENST00000489254,;CEP70,missense_variant,p.Leu47Pro,ENST00000459695,;CEP70,downstream_gene_variant,,ENST00000481834,;							MODERATE	1721/1794	L574P	CEP70_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264982	8.24E-06	CCDS3102.1			1	
LRRC56	0	LGGM	GRCh37	11	540735	540735	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	8	4	.	.	ENST00000270115.7:c.51C>T	p.Ser17=	p.S17=	ENST00000270115	NM_198075.3	17	agC/agT	0	1	1	UPI000007425F	0		ENST00000270115		ENSG00000161328	25430		12			HGNC	p.S17S	rs762310038	LRRC56		SNV				0.00022			ENST00000270115	protein_coding			hmmpanther:PTHR22708:SF0,hmmpanther:PTHR22708		S		T		551/2769	1.65E-05						YES	LRRC56,synonymous_variant,p.=,ENST00000270115,NM_198075.3;HRAS,upstream_gene_variant,,ENST00000468682,;							LOW	51/1629		LRC56_HUMAN			Transcript			.	ENSP00000270115	2.47E-05	CCDS7700.1			1	
DDX5	0	LGGM	GRCh37	17	62496737	62496737	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	31	4	.	.	ENST00000225792.5:c.1371C>G	p.Ile457Met	p.I457M	ENST00000225792	NM_004396.3	457	atC/atG	0	1	1	UPI000003B456	0	getma.org/pdb.php?prot=DDX5_HUMAN&from=328&to=475&var=I457M	ENST00000225792		ENSG00000108654	2746		35	1.62		HGNC	p.I457M		DDX5		SNV							ENST00000578804	protein_coding	getma.org/?cm=var&var=hg19,17,62496737,G,C&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF182,hmmpanther:PTHR24031,Gene3D:3.40.50.300		I/M		C	low	1773/2554		getma.org/?cm=msa&ty=f&p=DDX5_HUMAN&rb=328&re=475&var=I457M	deleterious(0.02)	J3QS97_HUMAN,J3QRQ7_HUMAN,J3QRN5_HUMAN,J3QR62_HUMAN,J3QLG9_HUMAN,J3QKN9_HUMAN,J3KTQ4_HUMAN,J3KRZ1_HUMAN,J3KRX8_HUMAN			YES	DDX5,missense_variant,p.Ile457Met,ENST00000225792,NM_004396.3;DDX5,missense_variant,p.Ile378Met,ENST00000450599,;DDX5,missense_variant,p.Ile457Met,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,non_coding_transcript_exon_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,;							MODERATE	1371/1845	I457M	DDX5_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000225792		CCDS11659.1			1	
GOLIM4	0	LGGM	GRCh37	3	167747037	167747037	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	25	4	.	.	ENST00000470487.1:c.1487A>G	p.Asp496Gly	p.D496G	ENST00000470487	NM_014498.3	496	gAc/gGc	0	1	1	UPI0000073BF8	0	NA	ENST00000470487		ENSG00000173905	15448		29	1.95		HGNC	p.D496G		GOLIM4		SNV							ENST00000470487	protein_coding	getma.org/?cm=var&var=hg19,3,167747037,T,C&fts=all		hmmpanther:PTHR22909:SF22,hmmpanther:PTHR22909		D/G		C	medium	2177/4373		getma.org/?cm=msa&ty=f&p=GOLI4_HUMAN&rb=1&re=694&var=D496G	deleterious(0.04)				YES	GOLIM4,missense_variant,p.Asp496Gly,ENST00000470487,NM_014498.3;GOLIM4,missense_variant,p.Asp468Gly,ENST00000309027,;							MODERATE	1487/2091	D496G	GOLI4_HUMAN			Transcript		benign(0.045)	.	ENSP00000417354		CCDS3204.1			1	
CMYA5	0	LGGM	GRCh37	5	79032200	79032200	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	61	4	.	.	ENST00000446378.2:c.7612G>A	p.Gly2538Ser	p.G2538S	ENST00000446378	NM_153610.3	2538	Ggt/Agt	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		65	0.69		HGNC	p.G2538S	rs745319116	CMYA5		SNV							ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79032200,G,A&fts=all		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7,Low_complexity_(Seg):seg		G/S		A	neutral	7643/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=2401&re=2600&var=G2538S					YES	CMYA5,missense_variant,p.Gly2538Ser,ENST00000446378,NM_153610.3;CMYA5,upstream_gene_variant,,ENST00000506603,;	0.000137						MODERATE	7612/12210	G2538S	CMYA5_HUMAN			Transcript		benign(0.109)	.	ENSP00000394770	8.28E-06	CCDS47238.1			1	
RRBP1	0	LGGM	GRCh37	20	17614139	17614153	+	inframe_deletion	In_Frame_Del	DEL	GCCTTGGCTTCCAGA	GCCTTGGCTTCCAGA	-	novel	by Submitter	H072777	H072777N.bam	GCCTTGGCTTCCAGA	GCCTTGGCTTCCAGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	12	4	.	.	ENST00000377807.2:c.1263_1277del	p.Leu422_Ala426del	p.L422_A426del	ENST00000377807	NM_001042576.1	421	gcTCTGGAAGCCAAGGCa/gca	0	1	1	UPI000002B2C0	0		ENST00000377807		ENSG00000125844	10448		16			HGNC	p.195_200del		RRBP1		deletion							ENST00000455029	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939		ALEAKA/A		-		1617-1631/3792				F8W7S5_HUMAN			YES	RRBP1,inframe_deletion,p.Leu855_Ala859del,ENST00000377813,;RRBP1,inframe_deletion,p.Leu855_Ala859del,ENST00000246043,;RRBP1,inframe_deletion,p.Leu422_Ala426del,ENST00000377807,NM_001042576.1;RRBP1,inframe_deletion,p.Leu422_Ala426del,ENST00000360807,NM_004587.2;RRBP1,inframe_deletion,p.Leu196_Ala200del,ENST00000455029,;RRBP1,inframe_deletion,p.Leu148_Arg152del,ENST00000495501,;							MODERATE	1263-1277/2934		RRBP1_HUMAN			Transcript			.	ENSP00000367038		CCDS13128.1			1	
ABCB5	0	LGGM	GRCh37	7	20782502	20782502	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	17	4	.	.	ENST00000404938.2:c.3027C>T	p.Asp1009=	p.D1009=	ENST00000404938	NM_001163941.1	1009	gaC/gaT	0	1	1	UPI000173A253	0		ENST00000404938		ENSG00000004846	46		21			HGNC	p.D176D	rs758544570	ABCB5	0.000183	SNV							ENST00000441315	protein_coding			hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Superfamily_domains:SSF52540		D		T		3679/5811							YES	ABCB5,splice_region_variant,p.=,ENST00000404938,NM_001163941.1;ABCB5,splice_region_variant,p.=,ENST00000258738,NM_178559.5;ABCB5,splice_region_variant,p.=,ENST00000441315,;	0.000929						LOW	3027/3774		ABCB5_HUMAN			Transcript			common_variant	ENSP00000384881	9.06E-05	CCDS55090.1			1	
KRTAP29-1	0	LGGM	GRCh37	17	39458966	39458966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	20	5	.	.	ENST00000391353.1:c.138C>T	p.Val46=	p.V46=	ENST00000391353	NM_001257309.1	46	gtC/gtT	0	1	1	UPI000015FD5F	0		ENST00000391353		ENSG00000212658	34211		25			HGNC	p.V46V	rs748534152	KRTAP29-1		SNV							ENST00000391353	protein_coding			hmmpanther:PTHR32378,hmmpanther:PTHR32378:SF1		V		A		138/1026							YES	KRTAP29-1,synonymous_variant,p.=,ENST00000391353,NM_001257309.1;KRTAP16-1,downstream_gene_variant,,ENST00000391352,NM_001146182.1;							LOW	138/1026		KR291_HUMAN			Transcript			.	ENSP00000375148		CCDS62183.1			1	
STX3	0	LGGM	GRCh37	11	59554594	59554594	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	22	5	.	.	ENST00000337979.4:c.199C>A	p.Pro67Thr	p.P67T	ENST00000337979	NM_001178040.1	67	Ccg/Acg	0	1	1	UPI000016786E	0	getma.org/pdb.php?prot=STX3_HUMAN&from=31&to=131&var=P67T	ENST00000337979		ENSG00000166900	11438		27	2.595		HGNC	p.P67T		STX3		SNV			1				ENST00000337979	protein_coding	getma.org/?cm=var&var=hg19,11,59554594,C,A&fts=all		Gene3D:1.20.58.70,Pfam_domain:PF00804,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF34,SMART_domains:SM00503,Superfamily_domains:SSF47661		P/T		A	medium	746/3299		getma.org/?cm=msa&ty=f&p=STX3_HUMAN&rb=31&re=131&var=P67T	deleterious(0.01)	Q53YE2_HUMAN,F8W9Y0_HUMAN,E9PN33_HUMAN			YES	STX3,missense_variant,p.Pro67Thr,ENST00000535361,;STX3,missense_variant,p.Pro67Thr,ENST00000337979,NM_001178040.1,NM_004177.4;STX3,missense_variant,p.Pro36Thr,ENST00000300150,;STX3,missense_variant,p.Pro67Thr,ENST00000529177,;STX3,missense_variant,p.Pro19Thr,ENST00000528805,;STX3,intron_variant,,ENST00000437946,;STX3,non_coding_transcript_exon_variant,,ENST00000530498,;STX3,intron_variant,,ENST00000533637,;							MODERATE	199/870	P67T	STX3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000338562		CCDS7975.1			1	
TUBGCP6	0	LGGM	GRCh37	22	50660920	50660920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	5	.	.	ENST00000248846.5:c.2372G>T	p.Arg791Leu	p.R791L	ENST00000248846		791	cGg/cTg	0	1	1	UPI000013CC55	0	NA	ENST00000248846		ENSG00000128159	18127		24	1.935		HGNC	p.R791L		TUBGCP6		SNV			1				ENST00000439308	protein_coding	getma.org/?cm=var&var=hg19,22,50660920,C,A&fts=all		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32		R/L		A	medium	2477/5612		getma.org/?cm=msa&ty=f&p=GCP6_HUMAN&rb=355&re=1725&var=R791L	deleterious(0)				YES	TUBGCP6,missense_variant,p.Arg791Leu,ENST00000439308,NM_020461.3;TUBGCP6,missense_variant,p.Arg791Leu,ENST00000248846,;SELO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;TUBGCP6,downstream_gene_variant,,ENST00000434349,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000489511,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;							MODERATE	2372/5460	R791L	GCP6_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000248846		CCDS14087.1			1	
RYK	0	LGGM	GRCh37	3	133928576	133928576	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	5	.	.	ENST00000296084.4:c.546C>T	p.Thr182=	p.T182=	ENST00000296084	NM_001005861.2	182	acC/acT	0	1	1	UPI00015E08D8	0		ENST00000296084		ENSG00000163785	10481		24			HGNC	p.T182T		RYK		SNV							ENST00000296084	protein_coding			PROSITE_profiles:PS50814,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF256,Pfam_domain:PF02019,SMART_domains:SM00469		T		A		546/2846				Q8WTZ8_HUMAN,F5H8L5_HUMAN			YES	RYK,synonymous_variant,p.=,ENST00000296084,NM_001005861.2,NM_002958.3;RYK,synonymous_variant,p.=,ENST00000460933,;RYK,5_prime_UTR_variant,,ENST00000427044,;RYK,upstream_gene_variant,,ENST00000464879,;							LOW	546/1827		RYK_HUMAN			Transcript			.	ENSP00000296084					1	
TMEM131	0	LGGM	GRCh37	2	98392319	98392319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	12	6	.	.	ENST00000186436.5:c.4307C>T	p.Pro1436Leu	p.P1436L	ENST00000186436	NM_015348.1	1436	cCg/cTg	0	1	1	UPI00006C0498	0	NA	ENST00000186436		ENSG00000075568	30366		18	1.78		HGNC	p.P1436L	rs755918240	TMEM131		SNV							ENST00000186436	protein_coding	getma.org/?cm=var&var=hg19,2,98392319,G,A&fts=all		hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1		P/L		A	low	4536/6640	1.51E-05	getma.org/?cm=msa&ty=f&p=TM131_HUMAN&rb=1309&re=1508&var=P1436L	deleterious_low_confidence(0.01)	C9J6W0_HUMAN			YES	TMEM131,missense_variant,p.Pro1436Leu,ENST00000186436,NM_015348.1;							MODERATE	4307/5652	P1436L	TM131_HUMAN			Transcript		benign(0.17)	.	ENSP00000186436	8.27E-06	CCDS46368.1			1	
ROR2	0	LGGM	GRCh37	9	94488834	94488834	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	27	6	.	.	ENST00000375708.3:c.1375C>G	p.Gln459Glu	p.Q459E	ENST00000375708	NM_004560.3	459	Cag/Gag	0	1	1	UPI000013E8CA	0	NA	ENST00000375708		ENSG00000169071	10257		33	0.55		HGNC	p.Q459E		ROR2		SNV			1				ENST00000375708	protein_coding	getma.org/?cm=var&var=hg19,9,94488834,G,C&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000624,Gene3D:3.30.200.20,hmmpanther:PTHR24416:SF132,hmmpanther:PTHR24416		Q/E		C	neutral	1574/4096		getma.org/?cm=msa&ty=f&p=ROR2_HUMAN&rb=395&re=472&var=Q459E	tolerated(0.53)				YES	ROR2,missense_variant,p.Gln459Glu,ENST00000375708,NM_004560.3;ROR2,missense_variant,p.Gln319Glu,ENST00000375715,;ROR2,non_coding_transcript_exon_variant,,ENST00000550066,;							MODERATE	1375/2832	Q459E	ROR2_HUMAN			Transcript		benign(0.011)	.	ENSP00000364860		CCDS6691.1			1	
ACCSL	0	LGGM	GRCh37	11	44072945	44072945	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	23	6	.	.	ENST00000378832.1:c.696C>T	p.Asp232=	p.D232=	ENST00000378832	NM_001031854.2	232	gaC/gaT	0	1	1	UPI000023785D	0		ENST00000378832		ENSG00000205126	34391		29			HGNC	p.D232D		ACCSL		SNV							ENST00000378832	protein_coding			hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.40.640.10,Superfamily_domains:SSF53383		D		T		752/1820							YES	ACCSL,synonymous_variant,p.=,ENST00000378832,NM_001031854.2;ACCSL,3_prime_UTR_variant,,ENST00000527145,;							LOW	696/1707		1A1L2_HUMAN			Transcript			.	ENSP00000368109		CCDS41636.1			1	
H3F3C	0	LGGM	GRCh37	12	31945028	31945028	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	31	6	.	.	ENST00000340398.3:c.73G>A	p.Ala25Thr	p.A25T	ENST00000340398	NM_001013699.2	25	Gct/Act	0	1	1	UPI0000185FBF	0	getma.org/pdb.php?prot=H3C_HUMAN&from=1&to=56&var=A25T	ENST00000340398		ENSG00000188375	33164		37	2.985		HGNC	p.A25T		H3F3C		SNV							ENST00000340398	protein_coding	getma.org/?cm=var&var=hg19,12,31945028,C,T&fts=all		Gene3D:1.10.20.10,Prints_domain:PR00622,hmmpanther:PTHR11426,Superfamily_domains:SSF47113		A/T		T	medium	148/1053		getma.org/?cm=msa&ty=f&p=H3C_HUMAN&rb=1&re=56&var=A25T	deleterious_low_confidence(0.03)				YES	H3F3C,missense_variant,p.Ala25Thr,ENST00000340398,NM_001013699.2;							MODERATE	73/408	A25T	H3C_HUMAN			Transcript		benign(0.016)	.	ENSP00000339835		CCDS31769.1			1	
PEG3	0	LGGM	GRCh37	19	57326037	57326037	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	12	6	.	.	ENST00000326441.9:c.3773T>C	p.Met1258Thr	p.M1258T	ENST00000326441	NM_006210.2	1258	aTg/aCg	0	1	1	UPI000006D36D	0	NA	ENST00000326441		ENSG00000198300	8826		18	0		HGNC	p.M1258T		PEG3		SNV							ENST00000599577	protein_coding	getma.org/?cm=var&var=hg19,19,57326037,A,G&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78		M/T		G	neutral	4137/8723		getma.org/?cm=msa&ty=f&p=PEG3_HUMAN&rb=1248&re=1279&var=M1258T	tolerated(0.6)	M0QXG1_HUMAN			YES	PEG3,missense_variant,p.Met1258Thr,ENST00000326441,NM_006210.2;PEG3,missense_variant,p.Met1258Thr,ENST00000423103,NM_001146184.1;PEG3,missense_variant,p.Met1134Thr,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,missense_variant,p.Met1258Thr,ENST00000599534,NM_001146186.1;PEG3,missense_variant,p.Met1258Thr,ENST00000599577,;PEG3,missense_variant,p.Met1132Thr,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,;							MODERATE	3773/4767	M1258T	PEG3_HUMAN			Transcript		benign(0.008)	.	ENSP00000326581		CCDS12948.1			1	
VCAN	0	LGGM	GRCh37	5	82836057	82836057	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	39	6	.	.	ENST00000265077.3:c.7235A>C	p.Lys2412Thr	p.K2412T	ENST00000265077	NM_004385.4	2412	aAa/aCa	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		45	1.24		HGNC	p.K1425T		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82836057,A,C&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		K/T		C	low	7800/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2217&re=2416&var=K2412T	tolerated(0.06)				YES	VCAN,missense_variant,p.Lys2412Thr,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Lys1425Thr,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	7235/10191	K2412T	CSPG2_HUMAN			Transcript		benign(0.103)	.	ENSP00000265077		CCDS4060.1			1	
MYH7	0	LGGM	GRCh37	14	23885477	23885477	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	70	6	.	.	ENST00000355349.3:c.4689G>A	p.Leu1563=	p.L1563=	ENST00000355349	NM_000257.2	1563	ctG/ctA	0	1	1	UPI000014019B	0		ENST00000355349		ENSG00000092054	7577		76			HGNC	p.L1563L	rs770477774	MYH7		SNV			1	0.000193			ENST00000355349	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279		L		T		4852/6087	3.00E-05			Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.2;MIR208B,downstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;							LOW	4689/5808		MYH7_HUMAN			Transcript			.	ENSP00000347507	4.94E-05	CCDS9601.1			1	
CADM1	0	LGGM	GRCh37	11	115099939	115099939	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	21	6	.	.	ENST00000452722.3:c.615G>A	p.Leu205=	p.L205=	ENST00000452722	NM_014333.3	205	ctG/ctA	0	1	1	UPI0000049C25	0		ENST00000452722		ENSG00000182985	5951		27			HGNC	p.L58L		CADM1		SNV							ENST00000543540	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF53,Pfam_domain:PF08205,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		L		T		636/8588				Q6MZK6_HUMAN,F5H8J9_HUMAN,F5H0H5_HUMAN			YES	CADM1,synonymous_variant,p.=,ENST00000452722,NM_014333.3;CADM1,synonymous_variant,p.=,ENST00000542447,NM_001098517.1;CADM1,synonymous_variant,p.=,ENST00000537058,;CADM1,synonymous_variant,p.=,ENST00000536727,;CADM1,synonymous_variant,p.=,ENST00000545380,;CADM1,synonymous_variant,p.=,ENST00000331581,;CADM1,synonymous_variant,p.=,ENST00000542450,;CADM1,synonymous_variant,p.=,ENST00000543540,;CADM1,synonymous_variant,p.=,ENST00000545094,;CADM1,downstream_gene_variant,,ENST00000543249,;CADM1,non_coding_transcript_exon_variant,,ENST00000537140,;CADM1,non_coding_transcript_exon_variant,,ENST00000541434,;CADM1,downstream_gene_variant,,ENST00000540951,;							LOW	615/1329		CADM1_HUMAN			Transcript			.	ENSP00000395359		CCDS8373.1			1	
CLEC12A	0	LGGM	GRCh37	12	10131656	10131656	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	49	6	.	.	ENST00000355690.4:c.213A>T	p.Ala71=	p.A71=	ENST00000355690	NM_001207010.1	71	gcA/gcT	0	1		UPI000013E96D	0		ENST00000304361		ENSG00000172322	31713		55			HGNC	p.A61A		CLEC12A		SNV							ENST00000396507	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR22800:SF136,hmmpanther:PTHR22800		A		T		365/1549				A8MVL9_HUMAN				CLEC12A,synonymous_variant,p.=,ENST00000304361,NM_138337.5,NM_201623.3;CLEC12A,synonymous_variant,p.=,ENST00000434319,;CLEC12A,synonymous_variant,p.=,ENST00000355690,NM_001207010.1;CLEC12A,synonymous_variant,p.=,ENST00000396507,;CLEC12A,intron_variant,,ENST00000350667,;CLEC12A,non_coding_transcript_exon_variant,,ENST00000449959,;CLEC12A,non_coding_transcript_exon_variant,,ENST00000543839,;							LOW	183/798		CL12A_HUMAN			Transcript			.	ENSP00000302804		CCDS8608.1			1	
SLX4	0	LGGM	GRCh37	16	3640021	3640021	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	31	7	.	.	ENST00000294008.3:c.3618C>T	p.Ser1206=	p.S1206=	ENST00000294008	NM_032444.2	1206	agC/agT	0	1	1	UPI000050D2C5	0		ENST00000294008		ENSG00000188827	23845		38			HGNC	p.S1206S		SLX4		SNV			1				ENST00000294008	protein_coding			hmmpanther:PTHR21541		S		A		4259/7307							YES	SLX4,synonymous_variant,p.=,ENST00000294008,NM_032444.2;							LOW	3618/5505		SLX4_HUMAN			Transcript			.	ENSP00000294008		CCDS10506.2			1	
BRINP3	0	LGGM	GRCh37	1	190195244	190195244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	26	7	.	.	ENST00000367462.3:c.929G>T	p.Trp310Leu	p.W310L	ENST00000367462	NM_199051.1	310	tGg/tTg	0	1	1	UPI00001C1D9A	0	NA	ENST00000367462		ENSG00000162670	22393		33	2.165		HGNC	p.W310L		BRINP3		SNV							ENST00000367462	protein_coding	getma.org/?cm=var&var=hg19,1,190195244,C,A&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		W/L		A	medium	1161/2889		getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=200&re=399&var=W310L	tolerated(0.05)				YES	BRINP3,missense_variant,p.Trp310Leu,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.Trp208Leu,ENST00000534846,;BRINP3,non_coding_transcript_exon_variant,,ENST00000463404,;							MODERATE	929/2301	W310L	BRNP3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000356432		CCDS1373.1			1	
ADAMTS19	0	LGGM	GRCh37	5	128863447	128863447	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	13	7	.	.	ENST00000274487.4:c.1075A>T	p.Asn359Tyr	p.N359Y	ENST00000274487	NM_133638.3	359	Aac/Tac	0	1	1	UPI000013DA0D	0	getma.org/pdb.php?prot=ATS19_HUMAN&from=325&to=545&var=N359Y	ENST00000274487		ENSG00000145808	17111		20	1.385		HGNC	p.N359Y		ADAMTS19		SNV							ENST00000274487	protein_coding	getma.org/?cm=var&var=hg19,5,128863447,A,T&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		N/Y		T	low	1220/5234		getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=325&re=545&var=N359Y	deleterious(0)				YES	ADAMTS19,missense_variant,p.Asn359Tyr,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,3_prime_UTR_variant,,ENST00000505791,;ADAMTS19,3_prime_UTR_variant,,ENST00000502709,;							MODERATE	1075/3624	N359Y	ATS19_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000274487		CCDS4146.1			1	
DNAH9	0	LGGM	GRCh37	17	11556257	11556257	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	31	7	.	.	ENST00000262442.4:c.2533C>T	p.Arg845Ter	p.R845*	ENST00000262442	NM_001372.3	845	Cga/Tga	0	1	1	UPI0000141BA2	0	NA	ENST00000262442		ENSG00000007174	2953		38	0		HGNC	p.R845X		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11556257,C,T&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676		R/*		T	NA	2601/13750		NA		Q92865_HUMAN			YES	DNAH9,stop_gained,p.Arg845Ter,ENST00000262442,NM_001372.3;DNAH9,stop_gained,p.Arg845Ter,ENST00000454412,;							HIGH	2533/13461	R845*	DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
PKD2L1	0	LGGM	GRCh37	10	102050249	102050249	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	12	8	.	.	ENST00000318222.3:c.2035C>A	p.Leu679Ile	p.L679I	ENST00000318222	NM_016112.2	679	Cta/Ata	0	1	1	UPI0000130FED	0	getma.org/pdb.php?prot=PK2L1_HUMAN&from=568&to=767&var=L679I	ENST00000318222		ENSG00000107593	9011		20	2.22		HGNC	p.L604I		PKD2L1		SNV							ENST00000338519	protein_coding	getma.org/?cm=var&var=hg19,10,102050249,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105		L/I		T	medium	2418/3043		getma.org/?cm=msa&ty=f&p=PK2L1_HUMAN&rb=568&re=767&var=L679I	deleterious(0.03)				YES	PKD2L1,missense_variant,p.Leu679Ile,ENST00000318222,NM_016112.2,NM_001253837.1;PKD2L1,missense_variant,p.Leu679Ile,ENST00000353274,;PKD2L1,missense_variant,p.Leu604Ile,ENST00000338519,;PKD2L1,intron_variant,,ENST00000465680,;BLOC1S2,upstream_gene_variant,,ENST00000441611,NM_001282439.1,NM_001282438.1,NM_001282437.1,NM_001001342.2;BLOC1S2,upstream_gene_variant,,ENST00000370372,NM_173809.4;BLOC1S2,upstream_gene_variant,,ENST00000579542,;BLOC1S2,upstream_gene_variant,,ENST00000361832,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;							MODERATE	2035/2418	L679I	PK2L1_HUMAN			Transcript		possibly_damaging(0.685)	.	ENSP00000325296		CCDS7492.1			1	
GALNT15	0	LGGM	GRCh37	3	16237339	16237339	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	37	8	.	.	ENST00000339732.5:c.612G>T	p.Trp204Cys	p.W204C	ENST00000339732	NM_054110.4	204	tgG/tgT	0	1	1	UPI0000048F0D	0	getma.org/pdb.php?prot=GLTL2_HUMAN&from=194&to=377&var=W204C	ENST00000339732		ENSG00000131386	21531		45	3.715		HGNC	p.W204C		GALNT15		SNV							ENST00000437509	protein_coding	getma.org/?cm=var&var=hg19,3,16237339,G,T&fts=all		hmmpanther:PTHR11675:SF36,hmmpanther:PTHR11675,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		W/C		T	high	1115/4669		getma.org/?cm=msa&ty=f&p=GLTL2_HUMAN&rb=194&re=377&var=W204C	deleterious(0)	B3KT16_HUMAN			YES	GALNT15,missense_variant,p.Trp204Cys,ENST00000339732,NM_054110.4;GALNT15,missense_variant,p.Trp204Cys,ENST00000437509,;GALNT15,missense_variant,p.Trp33Cys,ENST00000430410,;							MODERATE	612/1920	W204C	GLT15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000344260		CCDS33711.1			1	
GAMT	0	LGGM	GRCh37	19	1399017	1399017	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	18	8	.	.	ENST00000447102.3:c.468C>A	p.Ala156=	p.A156=	ENST00000447102	NM_138924.2	156	gcC/gcA	0	1		UPI000012B0CC	0		ENST00000252288		ENSG00000130005	4136		26			HGNC	p.A156A		GAMT		SNV			1				ENST00000252288	protein_coding			PROSITE_profiles:PS51559,hmmpanther:PTHR32162,Gene3D:3.40.50.150,PIRSF_domain:PIRSF009285,Superfamily_domains:SSF53335		A		T		535/1045								GAMT,synonymous_variant,p.=,ENST00000447102,NM_138924.2;GAMT,synonymous_variant,p.=,ENST00000252288,NM_000156.5;GAMT,synonymous_variant,p.=,ENST00000591788,;NDUFS7,downstream_gene_variant,,ENST00000313408,;NDUFS7,downstream_gene_variant,,ENST00000233627,NM_024407.4;NDUFS7,downstream_gene_variant,,ENST00000539480,;AC005329.7,upstream_gene_variant,,ENST00000501448,;AC005329.7,upstream_gene_variant,,ENST00000589734,;AC005329.7,upstream_gene_variant,,ENST00000585596,;NDUFS7,downstream_gene_variant,,ENST00000540530,;NDUFS7,downstream_gene_variant,,ENST00000591358,;NDUFS7,downstream_gene_variant,,ENST00000543289,;NDUFS7,downstream_gene_variant,,ENST00000545446,;NDUFS7,downstream_gene_variant,,ENST00000535382,;NDUFS7,downstream_gene_variant,,ENST00000534853,;NDUFS7,downstream_gene_variant,,ENST00000546172,;							LOW	468/711		GAMT_HUMAN			Transcript			.	ENSP00000252288		CCDS12064.1			1	
INVS	0	LGGM	GRCh37	9	103027179	103027179	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	23	8	.	.	ENST00000262457.2:c.1540T>G	p.Phe514Val	p.F514V	ENST00000262457	NM_014425.3	514	Ttc/Gtc	0	1	1	UPI000013D2BB	0	getma.org/pdb.php?prot=INVS_HUMAN&from=427&to=519&var=F514V	ENST00000262457		ENSG00000119509	17870		31	0.1		HGNC	p.F514V		INVS		SNV			1				ENST00000262456	protein_coding	getma.org/?cm=var&var=hg19,9,103027179,T,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24178,SMART_domains:SM00248,Superfamily_domains:SSF48403		F/V		G	neutral	1725/3709		getma.org/?cm=msa&ty=f&p=INVS_HUMAN&rb=427&re=519&var=F514V	deleterious(0.02)				YES	INVS,missense_variant,p.Phe514Val,ENST00000262457,NM_014425.3;INVS,missense_variant,p.Phe418Val,ENST00000541287,;INVS,missense_variant,p.Phe514Val,ENST00000262456,NM_183245.2;							MODERATE	1540/3198	F514V	INVS_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000262457		CCDS6746.1			1	
AXIN1	0	LGGM	GRCh37	16	354348	354348	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	12	8	.	.	ENST00000262320.3:c.1210G>T	p.Glu404Ter	p.E404*	ENST00000262320	NM_003502.3	404	Gag/Tag	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		20	0		HGNC	p.E404X		AXIN1		SNV			1				ENST00000262320	protein_coding	getma.org/?cm=var&var=hg19,16,354348,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11		E/*		A	NA	1582/3643		NA					YES	AXIN1,stop_gained,p.Glu404Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Glu404Ter,ENST00000354866,NM_181050.2;AXIN1,non_coding_transcript_exon_variant,,ENST00000481769,;AXIN1,non_coding_transcript_exon_variant,,ENST00000461023,;							HIGH	1210/2589	E404*	AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
IFI16	0	LGGM	GRCh37	1	159024634	159024634	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	14	8	.	.	ENST00000368131.4:c.2133G>A	p.Lys711=	p.K711=	ENST00000368131	NM_005531.2	711	aaG/aaA	0	1		UPI00001412BE	0		ENST00000295809		ENSG00000163565	5395		22			HGNC	p.K655K		IFI16		SNV							ENST00000448393	protein_coding					K		A		2556/2867				H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN				IFI16,synonymous_variant,p.=,ENST00000295809,;IFI16,synonymous_variant,p.=,ENST00000368131,NM_005531.2;IFI16,synonymous_variant,p.=,ENST00000368132,;IFI16,synonymous_variant,p.=,ENST00000359709,NM_001206567.1;IFI16,synonymous_variant,p.=,ENST00000430894,;IFI16,synonymous_variant,p.=,ENST00000340979,;IFI16,synonymous_variant,p.=,ENST00000448393,;AL359753.1,upstream_gene_variant,,ENST00000582922,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000562225,;							LOW	2301/2358		IF16_HUMAN			Transcript			.	ENSP00000295809					1	
SLC12A2	0	LGGM	GRCh37	5	127487056	127487078	+	frameshift_variant	Frame_Shift_Del	DEL	GGCTGTATATTTATGTTACCTAC	GGCTGTATATTTATGTTACCTAC	-	novel	by Submitter	H072777	H072777N.bam	GGCTGTATATTTATGTTACCTAC	GGCTGTATATTTATGTTACCTAC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	21	9	.	.	ENST00000262461.2:c.2231_2253del	p.Gly744GlufsTer37	p.G744Efs*37	ENST00000262461	NM_001046.2	744	gGGCTGTATATTTATGTTACCTAC/g	0	1	1	UPI000013541A	0		ENST00000262461		ENSG00000064651	10911		30			HGNC	p.744_751del		SLC12A2		deletion							ENST00000343225	protein_coding			Pfam_domain:PF00324,Prints_domain:PR01207,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF58,TIGRFAM_domain:TIGR00930,Transmembrane_helices:TMhelix		GLYIYVTY/X		-		2420-2442/6885				Q53ZR1_HUMAN			YES	SLC12A2,frameshift_variant,p.Gly744GlufsTer37,ENST00000262461,NM_001046.2;SLC12A2,frameshift_variant,p.Gly744GlufsTer37,ENST00000343225,NM_001256461.1;SLC12A2,frameshift_variant,p.Gly744GlufsTer37,ENST00000509205,;							HIGH	2231-2253/3639		S12A2_HUMAN			Transcript			.	ENSP00000262461		CCDS4144.1			1	
OR4A15	0	LGGM	GRCh37	11	55135955	55135955	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	106	9	.	.	ENST00000314706.3:c.596C>A	p.Pro199His	p.P199H	ENST00000314706	NM_001005275.1	199	cCc/cAc	0	1	1	UPI000004618F	0	NA	ENST00000314706		ENSG00000181958	15152	8.74E-05	115	1.85		HGNC	p.P199H	rs761530272	OR4A15		SNV							ENST00000314706	protein_coding	getma.org/?cm=var&var=hg19,11,55135955,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Superfamily_domains:SSF81321		P/H		A	low	596/1035		getma.org/?cm=msa&ty=f&p=O4A15_HUMAN&rb=167&re=308&var=P199H	deleterious_low_confidence(0)				YES	OR4A15,missense_variant,p.Pro199His,ENST00000314706,NM_001005275.1;							MODERATE	596/1035	P199H	O4A15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325065	8.24E-06	CCDS31500.1			1	
DPPA2	0	LGGM	GRCh37	3	109026945	109026945	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	30	9	.	.	ENST00000478945.1:c.592C>T	p.Gln198Ter	p.Q198*	ENST00000478945	NM_138815.3	198	Cag/Tag	0	1	1	UPI000007143F	0	NA	ENST00000478945		ENSG00000163530	19197		39	0		HGNC	p.Q198X		DPPA2		SNV							ENST00000478945	protein_coding	getma.org/?cm=var&var=hg19,3,109026945,G,A&fts=all		Pfam_domain:PF14049,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF7		Q/*		A	NA	839/1383		NA					YES	DPPA2,stop_gained,p.Gln198Ter,ENST00000478945,NM_138815.3;							HIGH	592/897	Q198*	DPPA2_HUMAN			Transcript			.	ENSP00000417710		CCDS2956.1			1	
KCNU1	0	LGGM	GRCh37	8	36703369	36703369	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	51	9	.	.	ENST00000399881.3:c.1843C>G	p.Leu615Val	p.L615V	ENST00000399881	NM_001031836.2	615	Cta/Gta	0	1	1	UPI0000F079EF	0	NA	ENST00000399881		ENSG00000215262	18867		60	2.51		HGNC	p.L615V		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36703369,C,G&fts=all		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		L/V		G	medium	1880/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=559&re=758&var=L615V	deleterious(0.04)				YES	KCNU1,missense_variant,p.Leu615Val,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Leu615Val,ENST00000522372,;							MODERATE	1843/3450	L615V	KCNU1_HUMAN			Transcript		benign(0.345)	.	ENSP00000382770		CCDS55220.1			1	
POLA1	0	LGGM	GRCh37	X	24759534	24759534	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	60	9	.	.	ENST00000379059.3:c.2241A>T	p.Lys747Asn	p.K747N	ENST00000379059	NM_016937.3	747	aaA/aaT	0	1	1	UPI000014D383	0	NA	ENST00000379059		ENSG00000101868	9173		69	0.845		HGNC	p.K753N		POLA1		SNV							ENST00000379068	protein_coding	getma.org/?cm=var&var=hg19,X,24759534,A,T&fts=all		hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Gene3D:3.30.420.10,TIGRFAM_domain:TIGR00592,SMART_domains:SM00486,Superfamily_domains:SSF53098		K/N		T	low	2256/5440		getma.org/?cm=msa&ty=f&p=DPOLA_HUMAN&rb=712&re=782&var=K747N	tolerated(0.37)				YES	POLA1,missense_variant,p.Lys753Asn,ENST00000379068,;POLA1,missense_variant,p.Lys747Asn,ENST00000379059,NM_016937.3;SCARNA23,upstream_gene_variant,,ENST00000516060,;POLA1,upstream_gene_variant,,ENST00000480125,;							MODERATE	2241/4389	K747N	DPOLA_HUMAN			Transcript		benign(0.005)	.	ENSP00000368349		CCDS14214.1			1	
AKAP6	0	LGGM	GRCh37	14	33292198	33292198	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	18	10	.	.	ENST00000280979.4:c.5179G>T	p.Ala1727Ser	p.A1727S	ENST00000280979	NM_004274.4	1727	Gct/Tct	0	1	1	UPI000013DC48	0	NA	ENST00000280979		ENSG00000151320	376		28	2.125		HGNC	p.A1727S		AKAP6		SNV							ENST00000280979	protein_coding	getma.org/?cm=var&var=hg19,14,33292198,G,T&fts=all		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		A/S		T	medium	5349/8686		getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=A1727S	deleterious(0.01)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,missense_variant,p.Ala1727Ser,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							MODERATE	5179/6960	A1727S	AKAP6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000280979		CCDS9644.1			1	
AC006378.2	0	LGGM	GRCh37	7	93605331	93605331	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	10	.	.	ENST00000426193.2:n.225+6353G>A		*75*	ENST00000426193				0	1	1		0		ENST00000426193		ENSG00000236861			29			Clone_based_vega_gene	p.S106F		AC006378.2		SNV							ENST00000357520	antisense							A		-/563							YES	AC006378.2,intron_variant,,ENST00000426193,;AC006378.2,intron_variant,,ENST00000426634,;BET1,non_coding_transcript_exon_variant,,ENST00000471446,;BET1,missense_variant,p.Ser106Phe,ENST00000357520,;							MODIFIER						Transcript			.						1	
CCDC85A	0	LGGM	GRCh37	2	56420037	56420037	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	14	10	.	.	ENST00000407595.2:c.702G>A	p.Pro234=	p.P234=	ENST00000407595	NM_001080433.1	234	ccG/ccA	0	1	1	UPI00001C1DC1	0		ENST00000407595		ENSG00000055813	29400		24			HGNC	p.P234P	rs368017443	CCDC85A	6.13E-05	SNV	A:0.0002			0.000111			ENST00000407595	protein_coding		A:0	hmmpanther:PTHR13546,hmmpanther:PTHR13546:SF13		P	A:0	A		1204/3982					A:0	A:0.002	YES	CCDC85A,synonymous_variant,p.=,ENST00000407595,NM_001080433.1;RP11-482H16.1,intron_variant,,ENST00000607540,;	0.000472	A:0.0004					LOW	702/1662		CC85A_HUMAN		A:0	Transcript			common_variant	ENSP00000384040	5.78E-05	CCDS46290.1		A:0	1	
CD300LB	0	LGGM	GRCh37	17	72527476	72527476	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	29	10	.	.	ENST00000392621.1:c.125C>G	p.Pro42Arg	p.P42R	ENST00000392621	NM_174892.3	42	cCt/cGt	0	1	1	UPI000013F7FE	0	NA	ENST00000392621		ENSG00000178789	30811		39	1.49		HGNC	p.P42R		CD300LB		SNV							ENST00000314401	protein_coding	getma.org/?cm=var&var=hg19,17,72527476,G,C&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF41		P/R		C	low	130/2286		getma.org/?cm=msa&ty=f&p=CLM7_HUMAN&rb=1&re=44&var=P5R	deleterious(0)	B4DQ71_HUMAN			YES	CD300LB,missense_variant,p.Pro42Arg,ENST00000392621,NM_174892.3;CD300LB,missense_variant,p.Pro42Arg,ENST00000314401,;							MODERATE	125/717	P5R	CLM7_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000376397					1	
FBLN1	0	LGGM	GRCh37	22	45931117	45931117	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	38	10	.	.	ENST00000327858.6:c.822C>G	p.Leu274=	p.L274=	ENST00000327858	NM_006486.2	274	ctC/ctG	0	1	1	UPI00001AE84C	0		ENST00000327858		ENSG00000077942	3600		48			HGNC	p.L312L		FBLN1		SNV			1				ENST00000402984	protein_coding			hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181		L		G		917/2896				B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN			YES	FBLN1,synonymous_variant,p.=,ENST00000348697,;FBLN1,synonymous_variant,p.=,ENST00000327858,NM_006486.2;FBLN1,synonymous_variant,p.=,ENST00000442170,NM_006485.3;FBLN1,synonymous_variant,p.=,ENST00000402984,;FBLN1,synonymous_variant,p.=,ENST00000340923,NM_006487.2;FBLN1,synonymous_variant,p.=,ENST00000262722,NM_001996.3;FBLN1,downstream_gene_variant,,ENST00000455233,;FBLN1,downstream_gene_variant,,ENST00000411478,;FBLN1,downstream_gene_variant,,ENST00000454279,;FBLN1,downstream_gene_variant,,ENST00000451475,;FBLN1,non_coding_transcript_exon_variant,,ENST00000484531,;FBLN1,intron_variant,,ENST00000437711,;FBLN1,intron_variant,,ENST00000460538,;FBLN1,intron_variant,,ENST00000465578,;							LOW	822/2112		FBLN1_HUMAN			Transcript			.	ENSP00000331544		CCDS14067.1			1	
DCC	0	LGGM	GRCh37	18	50451691	50451691	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	50	10	.	.	ENST00000442544.2:c.936C>G	p.Val312=	p.V312=	ENST00000442544	NM_005215.3	312	gtC/gtG	0	1	1	UPI00001AEDC6	0		ENST00000442544		ENSG00000187323	2701		60			HGNC	p.V312V		DCC		SNV			1				ENST00000442544	protein_coding			Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		V		G		1552/5721				J3QQJ6_HUMAN			YES	DCC,synonymous_variant,p.=,ENST00000442544,NM_005215.3;DCC,synonymous_variant,p.=,ENST00000412726,;DCC,non_coding_transcript_exon_variant,,ENST00000584710,;DCC,synonymous_variant,p.=,ENST00000304775,;DCC,non_coding_transcript_exon_variant,,ENST00000579883,;							LOW	936/4344		DCC_HUMAN			Transcript			.	ENSP00000389140		CCDS11952.1			1	
LAMA1	0	LGGM	GRCh37	18	6978296	6978296	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	15	10	.	.	ENST00000389658.3:c.6089C>T	p.Ala2030Val	p.A2030V	ENST00000389658	NM_005559.3	2030	gCg/gTg	0	1	1	UPI00001C1FF9	0	NA	ENST00000389658		ENSG00000101680	6481		25	-1.1		HGNC	p.A2030V	rs761631965,COSM216435	LAMA1		SNV			1			0,1	ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,6978296,G,A&fts=all		Pfam_domain:PF06009,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38		A/V		A	neutral	6183/9657	1.50E-05	getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=2011&re=2145&var=A2030V	tolerated(0.34)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Ala2030Val,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;					0,1		MODERATE	6089/9228	A2030V	LAMA1_HUMAN			Transcript		benign(0.002)	.	ENSP00000374309	8.24E-06	CCDS32787.1			1	
FBN2	0	LGGM	GRCh37	5	127614426	127614426	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	10	.	.	ENST00000508053.1:c.7246C>A	p.Arg2416=	p.R2416=	ENST00000508053		2416	Cga/Aga	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		29			HGNC	p.R2416R		FBN2		SNV			1				ENST00000262464	protein_coding			Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581		R		T		7685/10724								FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;							LOW	7246/8739		FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
ADCY6	0	LGGM	GRCh37	12	49171521	49171521	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	37	11	.	.	ENST00000307885.4:c.1015-2A>G		p.X339_splice	ENST00000307885	NM_015270.3			0	1	1	UPI000003EC29	0		ENST00000307885		ENSG00000174233	237		48			HGNC	-		ADCY6		SNV			1				ENST00000357869	protein_coding							C		-/6464				Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,splice_acceptor_variant,,ENST00000307885,NM_015270.3;ADCY6,splice_acceptor_variant,,ENST00000357869,;ADCY6,splice_acceptor_variant,,ENST00000550422,NM_020983.2;ADCY6,splice_acceptor_variant,,ENST00000548820,;ADCY6,upstream_gene_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,splice_acceptor_variant,,ENST00000551435,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;							HIGH	1015/3507		ADCY6_HUMAN			Transcript			.	ENSP00000311405		CCDS8767.1			1	
FAM231D	0	LGGM	GRCh37	1	149676427	149676427	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	31	11	.	.	ENST00000369173.2:c.358G>A	p.Glu120Lys	p.E120K	ENST00000369173		120	Gag/Aag	0	1	1	UPI000022AD4D	0	NA	ENST00000369173		ENSG00000203815	49509		42	0		HGNC	p.E120K		FAM231D		SNV							ENST00000369173	protein_coding	getma.org/?cm=var&var=hg19,1,149676427,G,A&fts=all				E/K		A	neutral	450/632		getma.org/?cm=msa&ty=f&p=U627C_HUMAN&rb=6&re=167&var=E120K		I3L0A6_HUMAN			YES	FAM231D,missense_variant,p.Glu120Lys,ENST00000369173,;RP11-353N4.4,intron_variant,,ENST00000443602,;RP11-353N4.5,intron_variant,,ENST00000608683,;RNU1-68P,upstream_gene_variant,,ENST00000517116,;							MODERATE	358/510	E120K				Transcript		possibly_damaging(0.807)	.	ENSP00000358171					1	
MYH6	0	LGGM	GRCh37	14	23869473	23869473	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	35	11	.	.	ENST00000405093.3:c.1573A>T	p.Ile525Phe	p.I525F	ENST00000405093	NM_002471.3	525	Atc/Ttc	0	1		UPI0000160969	0	getma.org/pdb.php?prot=MYH6_HUMAN&from=87&to=768&var=I525F	ENST00000356287		ENSG00000197616	7576		46	3.155		HGNC	p.I525F		MYH6		SNV			1				ENST00000356287	protein_coding	getma.org/?cm=var&var=hg19,14,23869473,T,A&fts=all		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,SMART_domains:SM00242,Superfamily_domains:SSF52540		I/F		A	medium	1603/5871		getma.org/?cm=msa&ty=f&p=MYH6_HUMAN&rb=87&re=768&var=I525F	deleterious(0)	Q9UQV1_HUMAN,A8CLL2_HUMAN				MYH6,missense_variant,p.Ile525Phe,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Ile525Phe,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;							MODERATE	1573/5820	I525F	MYH6_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000348634		CCDS9600.1			1	
LGR4	0	LGGM	GRCh37	11	27434352	27434352	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	55	11	.	.	ENST00000379214.4:c.241C>T	p.Pro81Ser	p.P81S	ENST00000379214	NM_018490.2	81	Cct/Tct	0	1	1	UPI00000373E7	0	getma.org/pdb.php?prot=LGR4_HUMAN&from=59&to=117&var=P81S	ENST00000379214		ENSG00000205213	13299		66	1.025		HGNC	p.P81S		LGR4		SNV			1				ENST00000480977	protein_coding	getma.org/?cm=var&var=hg19,11,27434352,G,A&fts=all		hmmpanther:PTHR24367:SF246,hmmpanther:PTHR24367,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		P/S		A	low	685/5206		getma.org/?cm=msa&ty=f&p=LGR4_HUMAN&rb=59&re=117&var=P81S	tolerated(0.2)	Q59ER8_HUMAN			YES	LGR4,missense_variant,p.Pro81Ser,ENST00000379214,NM_018490.2;LGR4,missense_variant,p.Pro81Ser,ENST00000480977,;LGR4,intron_variant,,ENST00000389858,;							MODERATE	241/2856	P81S	LGR4_HUMAN			Transcript		benign(0.014)	.	ENSP00000368516		CCDS31449.1			1	
DGKI	0	LGGM	GRCh37	7	137263044	137263044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	26	11	.	.	ENST00000288490.5:c.1670G>T	p.Arg557Leu	p.R557L	ENST00000288490	NM_004717.2	557	cGt/cTt	0	1	1	UPI000012DD23	0	NA	ENST00000288490		ENSG00000157680	2855		37	3.19		HGNC	p.R557L		DGKI		SNV							ENST00000446122	protein_coding	getma.org/?cm=var&var=hg19,7,137263044,C,A&fts=all		Pfam_domain:PF00609,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41,SMART_domains:SM00045,Superfamily_domains:SSF111331		R/L		A	medium	1671/3895		getma.org/?cm=msa&ty=f&p=DGKI_HUMAN&rb=526&re=683&var=R557L	deleterious(0.01)	B3KR69_HUMAN			YES	DGKI,missense_variant,p.Arg257Leu,ENST00000453654,;DGKI,missense_variant,p.Arg557Leu,ENST00000424189,;DGKI,missense_variant,p.Arg557Leu,ENST00000446122,;DGKI,missense_variant,p.Arg557Leu,ENST00000288490,NM_004717.2;DGKI,non_coding_transcript_exon_variant,,ENST00000460662,;							MODERATE	1670/3198	R557L	DGKI_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000288490		CCDS5845.1			1	
LRRC34	0	LGGM	GRCh37	3	169514159	169514159	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	27	12	.	.	ENST00000446859.1:c.909-2A>T		p.X303_splice	ENST00000446859	NM_001172779.1			0	1	1	UPI0000E5AA9B	0		ENST00000446859		ENSG00000171757	28408		39			HGNC	-		LRRC34		SNV							ENST00000316515	protein_coding							A		-/1718				G3V115_HUMAN			YES	LRRC34,splice_acceptor_variant,,ENST00000522526,;LRRC34,splice_acceptor_variant,,ENST00000522830,;LRRC34,splice_acceptor_variant,,ENST00000316515,NM_153353.4;LRRC34,splice_acceptor_variant,,ENST00000446859,NM_001172779.1;LRRC34,intron_variant,,ENST00000528597,;RP11-362K14.6,downstream_gene_variant,,ENST00000602835,;RP11-362K14.7,downstream_gene_variant,,ENST00000602913,;LRRC34,splice_acceptor_variant,,ENST00000524327,;LRRC34,intron_variant,,ENST00000522329,;LRRC34,downstream_gene_variant,,ENST00000524054,;LRRC34,downstream_gene_variant,,ENST00000602774,;LRRC34,upstream_gene_variant,,ENST00000518252,;LRRC34,splice_acceptor_variant,,ENST00000522596,;LRRC34,splice_acceptor_variant,,ENST00000522080,;							HIGH	909/1395		LRC34_HUMAN			Transcript			.	ENSP00000414635		CCDS54672.1			1	
GPR113	0	LGGM	GRCh37	2	26540388	26540388	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	17	12	.	.	ENST00000311519.1:c.334C>T	p.Leu112=	p.L112=	ENST00000311519	NM_001145168.1	112	Ctg/Ttg	0	1	1	UPI000007411E	0		ENST00000311519		ENSG00000173567	18989		29			HGNC	p.L112L		GPR113		SNV							ENST00000311519	protein_coding			Low_complexity_(Seg):seg		L		A		334/3240							YES	GPR113,synonymous_variant,p.=,ENST00000333478,NM_153835.3;GPR113,synonymous_variant,p.=,ENST00000421160,NM_001145169.1;GPR113,synonymous_variant,p.=,ENST00000311519,NM_001145168.1;GPR113,synonymous_variant,p.=,ENST00000433584,;GPR113,intron_variant,,ENST00000541401,;EPT1,intron_variant,,ENST00000442141,;GPR113,non_coding_transcript_exon_variant,,ENST00000459892,;GPR113,non_coding_transcript_exon_variant,,ENST00000487878,;GPR113,synonymous_variant,p.=,ENST00000447444,;GPR113,intron_variant,,ENST00000435303,;							LOW	334/3240		GP113_HUMAN			Transcript			.	ENSP00000307831		CCDS46239.1			1	
THEMIS	0	LGGM	GRCh37	6	128134753	128134753	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	17	12	.	.	ENST00000543064.1:c.1033C>T	p.Arg345Ter	p.R345*	ENST00000543064	NM_001164685.1	345	Cga/Tga	0	1		UPI00001C1E44	0	NA	ENST00000368248		ENSG00000172673	21569		29	0		HGNC	p.R310X		THEMIS		SNV							ENST00000537166	protein_coding	getma.org/?cm=var&var=hg19,6,128134753,G,A&fts=all		Pfam_domain:PF12736,hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF1		R/*		A	NA	1182/3866		NA						THEMIS,stop_gained,p.Arg266Ter,ENST00000368250,;THEMIS,stop_gained,p.Arg345Ter,ENST00000543064,NM_001164685.1;THEMIS,stop_gained,p.Arg345Ter,ENST00000368248,NM_001010923.2;THEMIS,stop_gained,p.Arg310Ter,ENST00000537166,NM_001164687.1;THEMIS,stop_gained,p.Arg113Ter,ENST00000434358,;							HIGH	1033/1926	R345*	THMS1_HUMAN			Transcript			.	ENSP00000357231		CCDS34534.1			1	
MAGEB10	0	LGGM	GRCh37	X	27840071	27840071	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	23	13	.	.	ENST00000356790.2:c.648T>C	p.Asn216=	p.N216=	ENST00000356790	NM_182506.3	216	aaT/aaC	0	1	1	UPI000013F050	0		ENST00000356790		ENSG00000177689	25377		36			HGNC	p.N216N	rs774672183,COSM3844415,COSM3844414	MAGEB10		SNV						0,1,1	ENST00000356790	protein_coding			Pfam_domain:PF01454,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36,PROSITE_profiles:PS50838		N		C		893/1953							YES	MAGEB10,synonymous_variant,p.=,ENST00000356790,NM_182506.3;					0,1,1		LOW	648/1044		MAGBA_HUMAN			Transcript			.	ENSP00000368304	8.24E-06	CCDS35221.1	0.00158		1	
ACO1	0	LGGM	GRCh37	9	32419056	32419056	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	16	13	.	.	ENST00000309951.6:c.679G>T	p.Glu227Ter	p.E227*	ENST00000309951	NM_002197.2	227	Gaa/Taa	0	1	1	UPI000012D87E	0	NA	ENST00000309951		ENSG00000122729	117		29	0		HGNC	p.E227X		ACO1		SNV							ENST00000379921	protein_coding	getma.org/?cm=var&var=hg19,9,32419056,G,T&fts=all		hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Gene3D:3.30.499.10,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF53732		E/*		T	NA	817/7466		NA		Q9HBB2_HUMAN			YES	ACO1,stop_gained,p.Glu227Ter,ENST00000309951,NM_002197.2;ACO1,stop_gained,p.Glu227Ter,ENST00000379923,NM_001278352.1;ACO1,stop_gained,p.Glu128Ter,ENST00000541043,;							HIGH	679/2670	E227*	ACOC_HUMAN			Transcript			.	ENSP00000309477		CCDS6525.1			1	
CYB5R1	0	LGGM	GRCh37	1	202931669	202931669	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	36	13	.	.	ENST00000367249.4:c.904C>T	p.Arg302Ter	p.R302*	ENST00000367249	NM_016243.2	302	Cga/Tga	0	1	1	UPI0000037787	0	NA	ENST00000367249		ENSG00000159348	13397		49	0		HGNC	p.R302X		CYB5R1		SNV							ENST00000367249	protein_coding	getma.org/?cm=var&var=hg19,1,202931669,G,A&fts=all		hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF74		R/*		A	NA	979/1651		NA					YES	CYB5R1,stop_gained,p.Arg302Ter,ENST00000367249,NM_016243.2;ADIPOR1,upstream_gene_variant,,ENST00000340990,NM_015999.4;ADIPOR1,upstream_gene_variant,,ENST00000436244,;ADIPOR1,upstream_gene_variant,,ENST00000417068,;ADIPOR1,upstream_gene_variant,,ENST00000426229,;ADIPOR1,upstream_gene_variant,,ENST00000367254,;CYB5R1,downstream_gene_variant,,ENST00000446185,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000497655,;CYB5R1,downstream_gene_variant,,ENST00000478009,;CYB5R1,downstream_gene_variant,,ENST00000482572,;CYB5R1,downstream_gene_variant,,ENST00000473599,;CYB5R1,downstream_gene_variant,,ENST00000483915,;							HIGH	904/918	R302*	NB5R1_HUMAN			Transcript			.	ENSP00000356218		CCDS1431.1			1	
SCGB3A2	0	LGGM	GRCh37	5	147261066	147261066	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	32	14	.	.	ENST00000296694.4:c.113C>T	p.Pro38Leu	p.P38L	ENST00000296694	NM_054023.4	38	cCt/cTt	0	1	1	UPI0000001278	0		ENST00000296694		ENSG00000164265	18391		46			HGNC	p.P38L	COSM116209	SCGB3A2		SNV						1	ENST00000296694	protein_coding					P/L		T		206/515			tolerated(0.09)	Q2L6B3_HUMAN,D6RBX5_HUMAN			YES	SCGB3A2,missense_variant,p.Pro38Leu,ENST00000296694,NM_054023.4;SCGB3A2,5_prime_UTR_variant,,ENST00000504320,;CTC-327F10.5,downstream_gene_variant,,ENST00000512300,;SCGB3A2,non_coding_transcript_exon_variant,,ENST00000514688,;SCGB3A2,non_coding_transcript_exon_variant,,ENST00000507160,;C5orf46,intron_variant,,ENST00000510432,;					1		MODERATE	113/282		SG3A2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296694		CCDS4287.1			1	
MAP3K13	0	LGGM	GRCh37	3	185198275	185198275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	16	14	.	.	ENST00000265026.3:c.2757G>T	p.Gln919His	p.Q919H	ENST00000265026	NM_004721.4	919	caG/caT	0	1	1	UPI000006CF91	0	NA	ENST00000265026		ENSG00000073803	6852		30	0.895		HGNC	p.Q919H		MAP3K13		SNV							ENST00000424227	protein_coding	getma.org/?cm=var&var=hg19,3,185198275,G,T&fts=all		PIRSF_domain:PIRSF038165,PIRSF_domain:PIRSF500742		Q/H		T	low	3091/9876		getma.org/?cm=msa&ty=f&p=M3K13_HUMAN&rb=471&re=965&var=Q919H	deleterious_low_confidence(0)	C9JP65_HUMAN,C9J4W2_HUMAN			YES	MAP3K13,missense_variant,p.Gln919His,ENST00000265026,NM_004721.4;MAP3K13,missense_variant,p.Gln919His,ENST00000424227,NM_001242314.1;MAP3K13,missense_variant,p.Gln775His,ENST00000443863,;MAP3K13,missense_variant,p.Gln775His,ENST00000535426,;MAP3K13,missense_variant,p.Gln712His,ENST00000446828,NM_001242317.1;TMEM41A,non_coding_transcript_exon_variant,,ENST00000475480,;TMEM41A,downstream_gene_variant,,ENST00000484062,;MAP3K13,3_prime_UTR_variant,,ENST00000438053,;TMEM41A,intron_variant,,ENST00000382227,;							MODERATE	2757/2901	Q919H	M3K13_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265026		CCDS3270.1			1	
ZNF536	0	LGGM	GRCh37	19	30935398	30935398	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	75	14	.	.	ENST00000355537.3:c.929C>T	p.Ser310Leu	p.S310L	ENST00000355537	NM_014717.1	310	tCg/tTg	0	1	1	UPI000006ED3E	0	NA	ENST00000355537		ENSG00000198597	29025		89	0.875		HGNC	p.S310L	COSM3668235	ZNF536		SNV						1	ENST00000355537	protein_coding	getma.org/?cm=var&var=hg19,19,30935398,C,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/L		T	low	1076/4945		getma.org/?cm=msa&ty=f&p=ZN536_HUMAN&rb=280&re=343&var=S310L	tolerated(0.23)	K7EKT4_HUMAN,K7EJP8_HUMAN			YES	ZNF536,missense_variant,p.Ser310Leu,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Ser310Leu,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;					1		MODERATE	929/3903	S310L	ZN536_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000347730		CCDS32984.1			1	
MOV10L1	0	LGGM	GRCh37	22	50537979	50537979	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	19	14	.	.	ENST00000262794.5:c.390C>T	p.Gly130=	p.G130=	ENST00000262794	NM_018995.2	130	ggC/ggT	0	1	1	UPI00000421FB	0		ENST00000262794		ENSG00000073146	7201		33			HGNC	p.G110G	rs763137022,COSM190387,COSM3694132	MOV10L1		SNV				9.61E-05		0,1,1	ENST00000540615	protein_coding			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF321		G		T		473/3960							YES	MOV10L1,synonymous_variant,p.=,ENST00000262794,NM_018995.2;MOV10L1,synonymous_variant,p.=,ENST00000540615,NM_001164105.1;MOV10L1,synonymous_variant,p.=,ENST00000545383,;MOV10L1,synonymous_variant,p.=,ENST00000395858,NM_001164104.1;MOV10L1,5_prime_UTR_variant,,ENST00000395843,;MOV10L1,non_coding_transcript_exon_variant,,ENST00000475190,;MOV10L1,3_prime_UTR_variant,,ENST00000419054,;MOV10L1,3_prime_UTR_variant,,ENST00000395854,;					0,1,1		LOW	390/3636		M10L1_HUMAN			Transcript			.	ENSP00000262794	8.24E-06	CCDS14084.1			1	
C9orf152	0	LGGM	GRCh37	9	112963330	112963330	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	33	15	.	.	ENST00000400613.4:c.618C>G	p.Asn206Lys	p.N206K	ENST00000400613	NM_001012993.2	206	aaC/aaG	0	1	1	UPI00016278ED	0	NA	ENST00000400613		ENSG00000188959	31455		48	0		HGNC	p.N206K		C9orf152		SNV							ENST00000400613	protein_coding	getma.org/?cm=var&var=hg19,9,112963330,G,C&fts=all				N/K		C	neutral	1228/2717		getma.org/?cm=msa&ty=f&p=CI152_HUMAN&rb=4&re=237&var=N206K	tolerated(0.37)	A8K2L3_HUMAN			YES	C9orf152,missense_variant,p.Asn206Lys,ENST00000400613,NM_001012993.2;C9orf152,intron_variant,,ENST00000473442,;							MODERATE	618/720	N206K	CI152_HUMAN			Transcript		benign(0.004)	.	ENSP00000383456		CCDS35102.2			1	
ZNF236	0	LGGM	GRCh37	18	74607075	74607075	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	39	15	.	.	ENST00000253159.8:c.1518C>T	p.His506=	p.H506=	ENST00000253159	NM_007345.3	506	caC/caT	0	1	1	UPI0000F6DCCB	0		ENST00000253159		ENSG00000130856	13028	8.66E-05	54			HGNC	p.H508H	rs780565928	ZNF236		SNV							ENST00000320610	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15,Superfamily_domains:SSF57667		H		T		1716/8124							YES	ZNF236,synonymous_variant,p.=,ENST00000253159,NM_007345.3;ZNF236,synonymous_variant,p.=,ENST00000320610,;ZNF236,upstream_gene_variant,,ENST00000584565,;ZNF236,synonymous_variant,p.=,ENST00000543926,;ZNF236,non_coding_transcript_exon_variant,,ENST00000583488,;							LOW	1518/5538		ZN236_HUMAN			Transcript			.	ENSP00000253159	8.24E-06	CCDS42447.1			1	
CACNA1E	0	LGGM	GRCh37	1	181741209	181741209	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	33	15	.	.	ENST00000367573.2:c.4981A>G	p.Thr1661Ala	p.T1661A	ENST00000367573	NM_001205293.1	1661	Aca/Gca	0	1	1	UPI00004588C2	0	getma.org/pdb.php?prot=CAC1E_HUMAN&from=1512&to=1722&var=T1661A	ENST00000367573		ENSG00000198216	1392		48	4.16		HGNC	p.T1268A		CACNA1E		SNV							ENST00000367567	protein_coding	getma.org/?cm=var&var=hg19,1,181741209,A,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324		T/A		G	high	4981/7067		getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=1512&re=1722&var=T1661A	deleterious(0)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.Thr1642Ala,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Thr1612Ala,ENST00000357570,;CACNA1E,missense_variant,p.Thr1661Ala,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Thr1268Ala,ENST00000367567,;CACNA1E,missense_variant,p.Thr1593Ala,ENST00000358338,;CACNA1E,missense_variant,p.Thr1661Ala,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Thr1642Ala,ENST00000360108,;RNA5SP70,downstream_gene_variant,,ENST00000517168,;							MODERATE	4981/6942	T1661A	CAC1E_HUMAN			Transcript		possibly_damaging(0.523)	.	ENSP00000356545		CCDS55664.1			1	
TRIM55	0	LGGM	GRCh37	8	67067858	67067858	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	39	15	.	.	ENST00000315962.4:c.1524+1289G>A		*508*	ENST00000315962	NM_184085.1			0	1	1	UPI00001CE3B7	0	NA	ENST00000315962		ENSG00000147573	14215		54	0		HGNC	p.E509K		TRIM55		SNV							ENST00000276573	protein_coding	getma.org/?cm=var&var=hg19,8,67067858,G,A&fts=all						A	neutral	-/2912		getma.org/?cm=msa&ty=f&p=A8MXV5_HUMAN&rb=396&re=532&var=E509K					YES	TRIM55,missense_variant,p.Glu509Lys,ENST00000276573,NM_033058.2;TRIM55,intron_variant,,ENST00000315962,NM_184085.1;TRIM55,intron_variant,,ENST00000353317,NM_184086.1;TRIM55,intron_variant,,ENST00000350034,NM_184087.1;TRIM55,intron_variant,,ENST00000517647,;							MODIFIER	-/1647	E509K	TRI55_HUMAN			Transcript			.	ENSP00000323913		CCDS6184.1			1	
PLEKHB2	0	LGGM	GRCh37	2	131904262	131904262	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	63	17	.	.	ENST00000409158.1:c.609A>C	p.Arg203=	p.R203=	ENST00000409158		203	cgA/cgC	0	1		UPI000003E7E2	0		ENST00000409279		ENSG00000115762	19236		80			HGNC	p.E151A		PLEKHB2		SNV							ENST00000439822	protein_coding			hmmpanther:PTHR14309:SF8,hmmpanther:PTHR14309		R		C		1380/2488				B4DJB7_HUMAN				PLEKHB2,missense_variant,p.Glu159Ala,ENST00000438882,;PLEKHB2,missense_variant,p.Glu151Ala,ENST00000439822,NM_001267068.1;PLEKHB2,synonymous_variant,p.=,ENST00000403716,NM_001100623.1,NM_017958.2,NM_001267063.1,NM_001267064.1,NM_001267066.1,NM_001267065.1,NM_001267062.1;PLEKHB2,synonymous_variant,p.=,ENST00000234115,;PLEKHB2,synonymous_variant,p.=,ENST00000409279,;PLEKHB2,synonymous_variant,p.=,ENST00000409158,;PLEKHB2,synonymous_variant,p.=,ENST00000409612,;PLEKHB2,synonymous_variant,p.=,ENST00000538982,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;							LOW	585/669		PKHB2_HUMAN			Transcript			.	ENSP00000386666		CCDS46413.1			1	
PDE1C	0	LGGM	GRCh37	7	31855658	31855658	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	55	17	.	.	ENST00000396193.1:c.1873G>A	p.Glu625Lys	p.E625K	ENST00000396193	NM_001191058.1	625	Gag/Aag	0	1		UPI0000127BE9	0	NA	ENST00000321453		ENSG00000154678	8776		72	0.805		HGNC	p.E625K		PDE1C		SNV							ENST00000396193	protein_coding	getma.org/?cm=var&var=hg19,7,31855658,C,T&fts=all				E/K		T	low	2153/2898		getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=521&re=707&var=E565K	tolerated_low_confidence(0.09)	Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,missense_variant,p.Glu565Lys,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Glu625Lys,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Glu565Lys,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Glu565Lys,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Glu565Lys,ENST00000396182,NM_001191056.1;PDE1C,non_coding_transcript_exon_variant,,ENST00000479980,;							MODERATE	1693/2130	E565K	PDE1C_HUMAN			Transcript		benign(0.092)	.	ENSP00000318105		CCDS55099.1			1	
MYEF2	0	LGGM	GRCh37	15	48460975	48460975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	33	17	.	.	ENST00000324324.7:c.223A>G	p.Lys75Glu	p.K75E	ENST00000324324	NM_016132.3	75	Aag/Gag	0	1	1	UPI0000366A40	0	NA	ENST00000324324		ENSG00000104177	17940		50	1.7		HGNC	p.K75E		MYEF2		SNV							ENST00000561351	protein_coding	getma.org/?cm=var&var=hg19,15,48460975,T,C&fts=all		hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003		K/E		C	low	503/5563		getma.org/?cm=msa&ty=f&p=MYEF2_HUMAN&rb=1&re=101&var=K75E	deleterious(0.02)				YES	MYEF2,missense_variant,p.Lys75Glu,ENST00000324324,NM_016132.3;MYEF2,missense_variant,p.Lys75Glu,ENST00000267836,;MYEF2,non_coding_transcript_exon_variant,,ENST00000559862,;MYEF2,non_coding_transcript_exon_variant,,ENST00000560157,;MYEF2,missense_variant,p.Lys75Glu,ENST00000561351,;MYEF2,missense_variant,p.Lys75Glu,ENST00000561151,;							MODERATE	223/1803	K75E	MYEF2_HUMAN			Transcript		benign(0.254)	.	ENSP00000316950		CCDS32230.1			1	
TRIP12	0	LGGM	GRCh37	2	230723963	230723963	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	25	18	.	.	ENST00000283943.5:c.426C>T	p.Gly142=	p.G142=	ENST00000283943	NM_004238.1	142	ggC/ggT	0	1	1	UPI000013739D	0		ENST00000283943		ENSG00000153827	12306		43			HGNC	p.G184G	rs748897921	TRIP12	0.000242	SNV							ENST00000409677	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		G		A		605/9874				Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	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.=,ENST00000453485,;TRIP12,synonymous_variant,p.=,ENST00000435716,;TRIP12,synonymous_variant,p.=,ENST00000428959,;TRIP12,intron_variant,,ENST00000389045,NM_001284216.1;TRIP12,downstream_gene_variant,,ENST00000343290,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;							LOW	426/5979		TRIPC_HUMAN			Transcript			.	ENSP00000283943	3.29E-05	CCDS33391.1			1	
TMPO	0	LGGM	GRCh37	12	98926676	98926676	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072777	H072777N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	64	19	.	.	ENST00000266732.4:c.641C>T	p.Ser214Phe	p.S214F	ENST00000266732	NM_003276.2	214	tCt/tTt	0	1	1	UPI000013D709	0	NA	ENST00000266732		ENSG00000120802	11875		83	0.695		HGNC	p.S214F		TMPO		SNV			1				ENST00000266732	protein_coding	getma.org/?cm=var&var=hg19,12,98926676,C,T&fts=all		hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF7		S/F		T	neutral	879/3615		getma.org/?cm=msa&ty=f&p=LAP2A_HUMAN&rb=191&re=460&var=S214F	deleterious_low_confidence(0)				YES	TMPO,missense_variant,p.Ser214Phe,ENST00000266732,NM_003276.2;TMPO,intron_variant,,ENST00000556029,NM_001032283.2;TMPO,intron_variant,,ENST00000343315,;TMPO,intron_variant,,ENST00000393053,NM_001032284.2;TMPO,intron_variant,,ENST00000261210,;TMPO,intron_variant,,ENST00000556678,;TMPO,non_coding_transcript_exon_variant,,ENST00000549938,;TMPO,downstream_gene_variant,,ENST00000547214,;TMPO,downstream_gene_variant,,ENST00000546828,;TMPO,downstream_gene_variant,,ENST00000548911,;TMPO,intron_variant,,ENST00000552831,;							MODERATE	641/2085	S214F	LAP2A_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000266732		CCDS9064.1			1	
ANKRD36C	0	LGGM	GRCh37	2	96648051	96648051	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072777	H072777N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	70	20	.	.	ENST00000528268.1:c.546T>G	p.Phe182Leu	p.F182L	ENST00000528268		182	ttT/ttG	0	1		UPI00016620F5	0	getma.org/pdb.php?prot=E9PJI0_HUMAN&from=158&to=227&var=F182L	ENST00000456556		ENSG00000174501	32946		90	0.425		HGNC	p.F182L		ANKRD36C		SNV							ENST00000456556	protein_coding	getma.org/?cm=var&var=hg19,2,96648051,A,C&fts=all		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		F/L		C	neutral	631/5428		getma.org/?cm=msa&ty=f&p=E9PJI0_HUMAN&rb=158&re=227&var=F182L	tolerated(0.05)	I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN				ANKRD36C,missense_variant,p.Phe182Leu,ENST00000456556,;ANKRD36C,missense_variant,p.Phe182Leu,ENST00000528268,;							MODERATE	546/5337	F182L	AN36C_HUMAN			Transcript		benign(0.027)	.	ENSP00000403302					1	
DNAH10	0	LGGM	GRCh37	12	124352553	124352553	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072777	H072777N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	32	22	.	.	ENST00000409039.3:c.7052G>A	p.Gly2351Glu	p.G2351E	ENST00000409039	NM_207437.3	2351	gGa/gAa	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		54	3.62		HGNC	p.G2351E		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124352553,G,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		G/E		A	high	7077/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=2246&re=2415&var=G2351E					YES	DNAH10,missense_variant,p.Gly2351Glu,ENST00000409039,NM_207437.3;DNAH10,3_prime_UTR_variant,,ENST00000497783,;							MODERATE	7052/13416	G2351E	DYH10_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000386770		CCDS9255.2			1	
NXPH1	0	LGGM	GRCh37	7	8790646	8790646	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	152	23	.	.	ENST00000405863.1:c.63T>G	p.Cys21Trp	p.C21W	ENST00000405863	NM_152745.2	21	tgT/tgG	0	1	1	UPI000000DC02	0	NA	ENST00000405863		ENSG00000122584	20693		175	0.55		HGNC	p.C21W		NXPH1		SNV							ENST00000438764	protein_coding	getma.org/?cm=var&var=hg19,7,8790646,T,G&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR17103,hmmpanther:PTHR17103:SF13,PIRSF_domain:PIRSF038019		C/W		G	neutral	974/2921		getma.org/?cm=msa&ty=f&p=NXPH1_HUMAN&rb=7&re=49&var=C21W	deleterious(0.01)	Q3LID8_HUMAN,C9JPD0_HUMAN,C9JE46_HUMAN,B4DJV1_HUMAN			YES	NXPH1,missense_variant,p.Cys21Trp,ENST00000405863,NM_152745.2;NXPH1,missense_variant,p.Cys21Trp,ENST00000429542,;NXPH1,missense_variant,p.Cys21Trp,ENST00000438764,;NXPH1,5_prime_UTR_variant,,ENST00000602349,;NXPH1,non_coding_transcript_exon_variant,,ENST00000497400,;							MODERATE	63/816	C21W	NXPH1_HUMAN			Transcript		benign(0.113)	.	ENSP00000384551		CCDS47540.1			1	
ATRX	0	LGGM	GRCh37	X	76813049	76813049	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072777	H072777N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072777N.bam, H072777T.bam	Illumina HiSeq	57	29	.	.	ENST00000373344.5:c.6572A>G	p.Asp2191Gly	p.D2191G	ENST00000373344	NM_000489.3	2191	gAt/gGt	0	1	1	UPI0000161F78	0	getma.org/pdb.php?prot=ATRX_HUMAN&from=2025&to=2205&var=D2191G	ENST00000373344		ENSG00000085224	886		86	1.63		HGNC	p.D2153G		ATRX		SNV			1				ENST00000395603	protein_coding	getma.org/?cm=var&var=hg19,X,76813049,T,C&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799,Superfamily_domains:SSF52540		D/G		C	low	6787/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=2025&re=2205&var=D2191G		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Asp2191Gly,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Asp2153Gly,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;							MODERATE	6572/7479	D2191G	ATRX_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000362441		CCDS14434.1			1	
UNKL	0	LGGM	GRCh37	16	1453346	1453346	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	8	2	.	.	ENST00000389221.4:c.288-1G>T		p.X96_splice	ENST00000389221	NM_001193388.3			0	1	1	UPI0001AE676E	0		ENST00000389221		ENSG00000059145	14184		10			HGNC	-		UNKL		SNV							ENST00000389221	protein_coding							A		-/5078				D6RA68_HUMAN			YES	UNKL,splice_acceptor_variant,,ENST00000389221,NM_001193388.3;UNKL,splice_acceptor_variant,,ENST00000508903,;UNKL,splice_acceptor_variant,,ENST00000397462,;UNKL,splice_acceptor_variant,,ENST00000301712,NM_001037125.3;UNKL,splice_acceptor_variant,,ENST00000503648,;UNKL,splice_acceptor_variant,,ENST00000561783,;UNKL,splice_acceptor_variant,,ENST00000382757,;UNKL,splice_acceptor_variant,,ENST00000566707,;UNKL,upstream_gene_variant,,ENST00000502438,;UNKL,upstream_gene_variant,,ENST00000509981,;							HIGH	288/2043		UNKL_HUMAN			Transcript			.	ENSP00000373873					1	
CCDC183	0	LGGM	GRCh37	9	139693672	139693672	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	6	2	.	.	ENST00000338005.6:c.189G>A	p.Lys63=	p.K63=	ENST00000338005	NM_001039374.4	63	aaG/aaA	0	1	1	UPI00015E02CD	0		ENST00000338005		ENSG00000213213	28236		8			HGNC	p.K63K	COSM753104	CCDC183		SNV						1	ENST00000338005	protein_coding			hmmpanther:PTHR21694:SF16,hmmpanther:PTHR21694		K		A		224/1671							YES	CCDC183,synonymous_variant,p.=,ENST00000338005,NM_001039374.4;RP11-216L13.17,synonymous_variant,p.=,ENST00000456614,;CCDC183-AS1,downstream_gene_variant,,ENST00000414656,;CCDC183,non_coding_transcript_exon_variant,,ENST00000371682,;CCDC183,synonymous_variant,p.=,ENST00000479371,;RP11-216L13.19,upstream_gene_variant,,ENST00000415992,;CCDC183,upstream_gene_variant,,ENST00000430612,;CCDC183,upstream_gene_variant,,ENST00000481601,;CCDC183,upstream_gene_variant,,ENST00000609471,;RP11-216L13.18,upstream_gene_variant,,ENST00000471502,;					1		LOW	189/1605		K1984_HUMAN			Transcript			.	ENSP00000338013		CCDS43906.1			1	
ABCA12	0	LGGM	GRCh37	2	215851305	215851305	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	18	2	.	.	ENST00000272895.7:c.4124C>G	p.Ser1375Ter	p.S1375*	ENST00000272895	NM_173076.2	1375	tCa/tGa	0	1	1	UPI000019AB7A	0	NA	ENST00000272895		ENSG00000144452	14637		20	0		HGNC	p.S1375X		ABCA12		SNV			1				ENST00000272895	protein_coding	getma.org/?cm=var&var=hg19,2,215851305,G,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229,PROSITE_profiles:PS50893		S/*		C	NA	4344/9100		NA		A0SYP7_HUMAN			YES	ABCA12,stop_gained,p.Ser1375Ter,ENST00000272895,NM_173076.2;ABCA12,stop_gained,p.Ser1057Ter,ENST00000389661,NM_015657.3;							HIGH	4124/7788	S1375*	ABCAC_HUMAN			Transcript			.	ENSP00000272895		CCDS33372.1			1	
XPC	0	LGGM	GRCh37	3	14201284	14201284	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	9	2	.	.	ENST00000285021.7:c.947T>C	p.Val316Ala	p.V316A	ENST00000285021	NM_004628.4	316	gTa/gCa	0	1	1	UPI000196375E	0	NA	ENST00000285021		ENSG00000154767	12816		11	2.85		HGNC	p.V279A		XPC		SNV			1				ENST00000449060	protein_coding	getma.org/?cm=var&var=hg19,3,14201284,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12135,hmmpanther:PTHR12135:SF0,TIGRFAM_domain:TIGR00605,Superfamily_domains:SSF54001		V/A		G	medium	1162/3832		getma.org/?cm=msa&ty=f&p=XPC_HUMAN&rb=161&re=332&var=V316A	deleterious(0)	D2CPK4_HUMAN,D2CPK2_HUMAN,D2CPK1_HUMAN,D2CPJ8_HUMAN,D2CPJ3_HUMAN,D2CPJ1_HUMAN,D2CPI9_HUMAN			YES	XPC,missense_variant,p.Val316Ala,ENST00000285021,NM_004628.4,NM_001145769.1;XPC,missense_variant,p.Val279Ala,ENST00000449060,;XPC,3_prime_UTR_variant,,ENST00000476581,;XPC,non_coding_transcript_exon_variant,,ENST00000477324,;XPC,downstream_gene_variant,,ENST00000455144,;							MODERATE	947/2823	V316A	XPC_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000285021		CCDS46763.1			1	
EPOR	0	LGGM	GRCh37	19	11492428	11492428	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	14	2	.	.	ENST00000222139.6:c.525G>T	p.Thr175=	p.T175=	ENST00000222139	NM_000121.3	175	acG/acT	0	1	1	UPI000012A0AD	0		ENST00000222139		ENSG00000187266	3416		16			HGNC	p.T175T		EPOR		SNV			1				ENST00000222139	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR23037:SF7,hmmpanther:PTHR23037,PROSITE_patterns:PS01352,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF001959,Superfamily_domains:SSF49265		T		A		630/2056				I6R7G3_HUMAN			YES	EPOR,synonymous_variant,p.=,ENST00000592375,;EPOR,synonymous_variant,p.=,ENST00000222139,NM_000121.3;SWSAP1,downstream_gene_variant,,ENST00000312423,NM_175871.3;EPOR,synonymous_variant,p.=,ENST00000591958,;EPOR,3_prime_UTR_variant,,ENST00000586890,;EPOR,3_prime_UTR_variant,,ENST00000588859,;EPOR,non_coding_transcript_exon_variant,,ENST00000588681,;EPOR,non_coding_transcript_exon_variant,,ENST00000589402,;RGL3,downstream_gene_variant,,ENST00000563726,;RGL3,downstream_gene_variant,,ENST00000562663,;EPOR,upstream_gene_variant,,ENST00000590927,;							LOW	525/1527		EPOR_HUMAN			Transcript			.	ENSP00000222139		CCDS12260.1			1	
PCDHGA12	0	LGGM	GRCh37	5	140890686	140890686	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	40	3	.	.	ENST00000252085.3:c.2745C>A	p.Ala915=	p.A915=	ENST00000252085	NM_003735.2	915	gcC/gcA	0	1	1	UPI0000073EA1	0		ENST00000252085		ENSG00000253159	8699		43			HGNC	p.A913A		PCDHGA12		SNV							ENST00000520790	protein_coding			Low_complexity_(Seg):seg		A		A		2887/4747				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA12,synonymous_variant,p.=,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,synonymous_variant,p.=,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGC3,synonymous_variant,p.=,ENST00000308177,NM_002588.2,NM_032402.1;PCDHGC5,synonymous_variant,p.=,ENST00000252087,NM_018929.2,NM_032403.2,NM_032407.1;PCDHGC4,synonymous_variant,p.=,ENST00000306593,NM_018928.2,NM_032406.1;PCDHGA10,synonymous_variant,p.=,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA8,synonymous_variant,p.=,ENST00000398604,NM_032088.1;PCDHGA3,synonymous_variant,p.=,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA9,synonymous_variant,p.=,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA2,synonymous_variant,p.=,ENST00000394576,NM_018915.2;PCDHGA7,synonymous_variant,p.=,ENST00000518325,NM_018920.2;PCDHGA6,synonymous_variant,p.=,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA4,synonymous_variant,p.=,ENST00000571252,NM_018917.2;PCDHGA1,synonymous_variant,p.=,ENST00000517417,NM_018912.2;PCDHGA5,synonymous_variant,p.=,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,synonymous_variant,p.=,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGB6,synonymous_variant,p.=,ENST00000520790,NM_018926.2,NM_032100.1;PCDHGB7,synonymous_variant,p.=,ENST00000398594,NM_018927.3;PCDHGB1,synonymous_variant,p.=,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,synonymous_variant,p.=,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;PCDHGA11,synonymous_variant,p.=,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,synonymous_variant,p.=,ENST00000518882,;DIAPH1,downstream_gene_variant,,ENST00000253811,;DIAPH1,downstream_gene_variant,,ENST00000398557,NM_005219.4;DIAPH1,downstream_gene_variant,,ENST00000389054,;DIAPH1,downstream_gene_variant,,ENST00000398566,;DIAPH1,downstream_gene_variant,,ENST00000389057,NM_001079812.2;DIAPH1,downstream_gene_variant,,ENST00000398562,;DIAPH1,downstream_gene_variant,,ENST00000520569,;DIAPH1,downstream_gene_variant,,ENST00000518047,;DIAPH1,downstream_gene_variant,,ENST00000448451,;DIAPH1,downstream_gene_variant,,ENST00000476339,;							LOW	2745/2799		PCDGC_HUMAN			Transcript			.	ENSP00000252085		CCDS4260.1			1	
ENOX1	0	LGGM	GRCh37	13	43788156	43788156	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	35	3	.	.	ENST00000261488.6:c.1902G>T	p.Leu634=	p.L634=	ENST00000261488	NM_017993.3	634	ctG/ctT	0	1	1	UPI0000071D6F	0		ENST00000261488		ENSG00000120658	25474		38			HGNC	p.L634L		ENOX1		SNV							ENST00000412891	protein_coding			hmmpanther:PTHR16001:SF6,hmmpanther:PTHR16001		L		A		2480/2982							YES	ENOX1,synonymous_variant,p.=,ENST00000261488,NM_017993.3,NM_001242863.1;ENOX1,synonymous_variant,p.=,ENST00000412891,NM_001127615.1;							LOW	1902/1932		ENOX1_HUMAN			Transcript			.	ENSP00000261488		CCDS9389.1			1	
TMEM131	0	LGGM	GRCh37	2	98426200	98426200	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	16	3	.	.	ENST00000186436.5:c.2006G>T	p.Gly669Val	p.G669V	ENST00000186436	NM_015348.1	669	gGc/gTc	0	1	1	UPI00006C0498	0	NA	ENST00000186436		ENSG00000075568	30366		19	2.095		HGNC	p.G669V		TMEM131		SNV							ENST00000186436	protein_coding	getma.org/?cm=var&var=hg19,2,98426200,C,A&fts=all		Pfam_domain:PF12371,hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1		G/V		A	medium	2235/6640		getma.org/?cm=msa&ty=f&p=TM131_HUMAN&rb=633&re=708&var=G669V	deleterious(0)	C9J6W0_HUMAN			YES	TMEM131,missense_variant,p.Gly669Val,ENST00000186436,NM_015348.1;TMEM131,downstream_gene_variant,,ENST00000425805,;TMEM131,downstream_gene_variant,,ENST00000418629,;							MODERATE	2006/5652	G669V	TM131_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000186436		CCDS46368.1			1	
SPATA13	0	LGGM	GRCh37	13	24868910	24868910	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	30	3	.	.	ENST00000382141.4:c.2748C>A	p.Ala916=	p.A916=	ENST00000382141		916	gcC/gcA	0	1		UPI000007013B	0		ENST00000382095		ENSG00000182957	23222		33			HGNC	p.A273A		SPATA13		SNV							ENST00000409126	protein_coding			Superfamily_domains:SSF48065,SMART_domains:SM00325,Gene3D:1.20.900.10,Pfam_domain:PF00621,hmmpanther:PTHR22826:SF103,hmmpanther:PTHR22826,PROSITE_profiles:PS50010		A		A		1646/6665								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,;							LOW	1239/1959		SPT13_HUMAN			Transcript			.	ENSP00000371527		CCDS9305.1			1	
PCSK5	0	LGGM	GRCh37	9	78790043	78790043	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	40	3	.	.	ENST00000545128.1:c.1898C>T	p.Ala633Val	p.A633V	ENST00000545128	NM_001190482.1	633	gCa/gTa	0	1	1	UPI0001DAD817	0	getma.org/pdb.php?prot=PCSK5_HUMAN&from=596&to=795&var=A633V	ENST00000545128		ENSG00000099139	8747		43	-0.255		HGNC	p.A633V		PCSK5		SNV							ENST00000376767	protein_coding	getma.org/?cm=var&var=hg19,9,78790043,C,T&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00261		A/V		T	neutral	2436/9538		getma.org/?cm=msa&ty=f&p=PCSK5_HUMAN&rb=596&re=795&var=A633V	tolerated(0.2)	I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Ala633Val,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Ala633Val,ENST00000376752,NM_006200.3;PCSK5,missense_variant,p.Ala306Val,ENST00000424854,;PCSK5,missense_variant,p.Ala633Val,ENST00000376767,;							MODERATE	1898/5583	A633V	PCSK5_HUMAN			Transcript		benign(0.309)	.	ENSP00000446280		CCDS55320.1			1	
ACSF3	0	LGGM	GRCh37	16	89180878	89180878	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	11	3	.	.	ENST00000317447.4:c.1109C>A	p.Thr370Asn	p.T370N	ENST00000317447	NM_174917.3	370	aCt/aAt	0	1	1	UPI00001AF19E	0	getma.org/pdb.php?prot=ACSF3_HUMAN&from=67&to=504&var=T370N	ENST00000317447		ENSG00000176715	27288		14	0.345		HGNC	p.T370N		ACSF3		SNV			1				ENST00000406948	protein_coding	getma.org/?cm=var&var=hg19,16,89180878,C,A&fts=all		hmmpanther:PTHR24095:SF52,hmmpanther:PTHR24095,Pfam_domain:PF00501,Superfamily_domains:SSF56801		T/N		A	neutral	1486/3664		getma.org/?cm=msa&ty=f&p=ACSF3_HUMAN&rb=67&re=504&var=T370N	tolerated(0.5)	H3BTS0_HUMAN,F5H755_HUMAN,F5H5A1_HUMAN,F5H3B2_HUMAN,F5H362_HUMAN,F5GX20_HUMAN			YES	ACSF3,missense_variant,p.Thr370Asn,ENST00000317447,NM_174917.3,NM_001127214.2,NM_001243279.1,NM_001284316.1;ACSF3,missense_variant,p.Thr370Asn,ENST00000406948,;ACSF3,missense_variant,p.Thr105Asn,ENST00000378345,;ACSF3,missense_variant,p.Thr118Asn,ENST00000543676,;ACSF3,missense_variant,p.Thr105Asn,ENST00000544543,;ACSF3,missense_variant,p.Thr105Asn,ENST00000540697,;ACSF3,missense_variant,p.Thr105Asn,ENST00000537895,;ACSF3,intron_variant,,ENST00000538340,;CTD-2555A7.3,non_coding_transcript_exon_variant,,ENST00000562782,;ACSF3,intron_variant,,ENST00000562204,;ACSF3,intron_variant,,ENST00000542688,;							MODERATE	1109/1731	T370N	ACSF3_HUMAN			Transcript		benign(0.139)	.	ENSP00000320646		CCDS10974.1			1	
AMPD2	0	LGGM	GRCh37	1	110172459	110172459	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	37	3	.	.	ENST00000256578.3:c.2066G>T	p.Gly689Val	p.G689V	ENST00000256578	NM_004037.7	689	gGg/gTg	0	1	1	UPI0000125956	0	getma.org/pdb.php?prot=AMPD2_HUMAN&from=411&to=818&var=G689V	ENST00000256578		ENSG00000116337	469		40	3.74		HGNC	p.G614V		AMPD2		SNV			1				ENST00000358729	protein_coding	getma.org/?cm=var&var=hg19,1,110172459,G,T&fts=all		hmmpanther:PTHR11359:SF3,hmmpanther:PTHR11359,Gene3D:3.20.20.140,Pfam_domain:PF00962,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556		G/V		T	high	2426/3899		getma.org/?cm=msa&ty=f&p=AMPD2_HUMAN&rb=411&re=818&var=G689V	deleterious(0)	E9PIJ1_HUMAN			YES	AMPD2,missense_variant,p.Gly689Val,ENST00000256578,NM_004037.7;AMPD2,missense_variant,p.Gly608Val,ENST00000342115,NM_139156.3;AMPD2,missense_variant,p.Gly570Val,ENST00000393688,NM_203404.1;AMPD2,missense_variant,p.Gly689Val,ENST00000528667,NM_001257360.1;AMPD2,missense_variant,p.Gly660Val,ENST00000369840,;AMPD2,missense_variant,p.Gly614Val,ENST00000358729,;AMPD2,missense_variant,p.Gly571Val,ENST00000528454,NM_001257361.1;AMPD2,missense_variant,p.Gly78Val,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,intron_variant,,ENST00000479919,;AMPD2,downstream_gene_variant,,ENST00000532851,;AMPD2,downstream_gene_variant,,ENST00000533132,;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,;							MODERATE	2066/2640	G689V	AMPD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256578		CCDS805.1			1	
CTNNA3	0	LGGM	GRCh37	10	67680161	67680161	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	43	3	.	.	ENST00000433211.2:c.2615G>C	p.Arg872Thr	p.R872T	ENST00000433211	NM_013266.2	872	aGa/aCa	0	1	1	UPI000004A0E6	0	NA	ENST00000433211		ENSG00000183230	2511		46	2.05		HGNC	p.R872T		CTNNA3		SNV			1				ENST00000433211	protein_coding	getma.org/?cm=var&var=hg19,10,67680161,C,G&fts=all		hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914		R/T		G	medium	2790/10675		getma.org/?cm=msa&ty=f&p=CTNA3_HUMAN&rb=857&re=895&var=R872T	deleterious(0)	Q5SW23_HUMAN,A6NKP0_HUMAN			YES	CTNNA3,missense_variant,p.Arg872Thr,ENST00000433211,NM_013266.2;CTNNA3,missense_variant,p.Arg872Thr,ENST00000373744,NM_001127384.1;CTNNA3,non_coding_transcript_exon_variant,,ENST00000373735,;							MODERATE	2615/2688	R872T	CTNA3_HUMAN			Transcript		unknown(0)	.	ENSP00000389714		CCDS7269.1			1	
SLFN5	0	LGGM	GRCh37	17	33585855	33585855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	45	3	.	.	ENST00000299977.4:c.146C>A	p.Ala49Asp	p.A49D	ENST00000299977	NM_144975.3	49	gCt/gAt	0	1	1	UPI0000237686	0	NA	ENST00000299977		ENSG00000166750	28286		48	2.645		HGNC	p.A49D		SLFN5		SNV							ENST00000592325	protein_coding	getma.org/?cm=var&var=hg19,17,33585855,C,A&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26		A/D		A	medium	294/10591		getma.org/?cm=msa&ty=f&p=SLFN5_HUMAN&rb=1&re=190&var=A49D	deleterious(0)				YES	SLFN5,missense_variant,p.Ala49Asp,ENST00000299977,NM_144975.3;SLFN5,missense_variant,p.Ala49Asp,ENST00000542451,;SLFN5,missense_variant,p.Ala49Asp,ENST00000592325,;							MODERATE	146/2676	A49D	SLFN5_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000299977		CCDS32619.1			1	
GDPD2	0	LGGM	GRCh37	X	69649882	69649882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	25	3	.	.	ENST00000453994.2:c.1276C>A	p.Pro426Thr	p.P426T	ENST00000453994	NM_001171192.1	426	Ccc/Acc	0	1		UPI000004C627	0	getma.org/pdb.php?prot=GDPD2_HUMAN&from=229&to=474&var=P426T	ENST00000374382		ENSG00000130055	25974		28	1.405		HGNC	p.P347T		GDPD2		SNV							ENST00000536730	protein_coding	getma.org/?cm=var&var=hg19,X,69649882,C,A&fts=all		Gene3D:3.20.20.190,PROSITE_profiles:PS51704,hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF1,Superfamily_domains:SSF51695		P/T		A	low	1527/2169		getma.org/?cm=msa&ty=f&p=GDPD2_HUMAN&rb=229&re=474&var=P426T	tolerated(0.13)					GDPD2,missense_variant,p.Pro426Thr,ENST00000453994,NM_001171192.1;GDPD2,missense_variant,p.Pro347Thr,ENST00000536730,NM_001171193.1;GDPD2,missense_variant,p.Pro426Thr,ENST00000374382,NM_017711.3;GDPD2,missense_variant,p.Pro347Thr,ENST00000538649,NM_001171191.1;GDPD2,non_coding_transcript_exon_variant,,ENST00000472623,;							MODERATE	1276/1620	P426T	GDPD2_HUMAN			Transcript		benign(0.185)	.	ENSP00000363503		CCDS14402.1			1	
SRL	0	LGGM	GRCh37	16	4242871	4242871	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	47	3	.	.	ENST00000399609.3:c.705G>C	p.Glu235Asp	p.E235D	ENST00000399609	NM_001098814.1	235	gaG/gaC	0	1	1	UPI00006688CC	0	getma.org/pdb.php?prot=SRCA_HUMAN&from=555&to=716&var=E694D	ENST00000399609		ENSG00000185739	11295		50	3.09		HGNC	p.E193D		SRL		SNV							ENST00000537996	protein_coding	getma.org/?cm=var&var=hg19,16,4242871,C,G&fts=all		PROSITE_profiles:PS51718,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF66,Pfam_domain:PF00350,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		E/D		G	medium	718/4214		getma.org/?cm=msa&ty=f&p=SRCA_HUMAN&rb=555&re=716&var=E694D	deleterious(0.04)	B4DYT9_HUMAN			YES	SRL,missense_variant,p.Glu235Asp,ENST00000399609,NM_001098814.1;SRL,missense_variant,p.Glu193Asp,ENST00000537996,;SRL,3_prime_UTR_variant,,ENST00000572111,;							MODERATE	705/1422	E694D	SRCA_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000382518		CCDS42113.1			1	
PDE8A	0	LGGM	GRCh37	15	85657190	85657190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	32	3	.	.	ENST00000310298.4:c.1272C>A	p.Thr424=	p.T424=	ENST00000310298		424	acC/acA	0	1	1	UPI0000127C00	0		ENST00000310298		ENSG00000073417	8793		35			HGNC	p.T424T		PDE8A		SNV							ENST00000394553	protein_coding			hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347		T		A		1524/3984				Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN			YES	PDE8A,synonymous_variant,p.=,ENST00000310298,;PDE8A,synonymous_variant,p.=,ENST00000394553,NM_002605.2;PDE8A,synonymous_variant,p.=,ENST00000557957,NM_001243137.1;PDE8A,synonymous_variant,p.=,ENST00000339708,NM_173454.1;PDE8A,downstream_gene_variant,,ENST00000557819,;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,,ENST00000558543,;PDE8A,downstream_gene_variant,,ENST00000557954,;PDE8A,upstream_gene_variant,,ENST00000561374,;PDE8A,upstream_gene_variant,,ENST00000560333,;PDE8A,downstream_gene_variant,,ENST00000559086,;							LOW	1272/2490		PDE8A_HUMAN			Transcript			.	ENSP00000311453		CCDS10336.1			1	
MYO15A	0	LGGM	GRCh37	17	18063273	18063273	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	9	3	.	.	ENST00000205890.5:c.9328C>T	p.Arg3110Trp	p.R3110W	ENST00000205890	NM_016239.3	3110	Cgg/Tgg	0	1	1	UPI0000E59E6E	0	getma.org/pdb.php?prot=MYO15_HUMAN&from=3090&to=3204&var=R3110W	ENST00000205890		ENSG00000091536	7594		12	3.22		HGNC	p.R64W	rs773489275,COSM245879	MYO15A	6.21E-05	SNV			1			0,1	ENST00000578472	protein_coding	getma.org/?cm=var&var=hg19,17,18063273,C,T&fts=all		Pfam_domain:PF00784,PROSITE_profiles:PS51016,SMART_domains:SM00139		R/W		T	medium	9666/11863		getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=3090&re=3204&var=R3110W		K7EQV1_HUMAN,G3V4G3_HUMAN			YES	MYO15A,missense_variant,p.Arg3110Trp,ENST00000205890,NM_016239.3;MYO15A,missense_variant,p.Arg374Trp,ENST00000418233,;MYO15A,missense_variant,p.Arg15Trp,ENST00000579848,;MYO15A,missense_variant,p.Arg2Trp,ENST00000451725,;MYO15A,missense_variant,p.Arg64Trp,ENST00000556535,;MYO15A,missense_variant,p.Arg64Trp,ENST00000578472,;MYO15A,downstream_gene_variant,,ENST00000585180,;MYO15A,non_coding_transcript_exon_variant,,ENST00000557190,;MYO15A,3_prime_UTR_variant,,ENST00000557655,;MYO15A,non_coding_transcript_exon_variant,,ENST00000433411,;MYO15A,intron_variant,,ENST00000445289,;MYO15A,upstream_gene_variant,,ENST00000473013,;MYO15A,upstream_gene_variant,,ENST00000578575,;MYO15A,downstream_gene_variant,,ENST00000536811,;					0,1		MODERATE	9328/10593	R3110W	MYO15_HUMAN			Transcript		unknown(0)	.	ENSP00000205890	1.65E-05	CCDS42271.1			1	
SYNE2	0	LGGM	GRCh37	14	64604687	64604687	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	19	3	.	.	ENST00000358025.3:c.14829C>A	p.Leu4943=	p.L4943=	ENST00000358025	NM_182914.2	4943	ctC/ctA	0	1		UPI00001B0452	0		ENST00000344113		ENSG00000054654	17084		22			HGNC	p.L1328L		SYNE2		SNV			1				ENST00000394768	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,Low_complexity_(Seg):seg,Superfamily_domains:SSF46966		L		A		15041/21777				Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,synonymous_variant,p.=,ENST00000357395,;SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,synonymous_variant,p.=,ENST00000555002,;SYNE2,synonymous_variant,p.=,ENST00000394768,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000556275,;SYNE2,upstream_gene_variant,,ENST00000555612,;							LOW	14829/20658		SYNE2_HUMAN			Transcript			.	ENSP00000341781		CCDS41963.1			1	
GCFC2	0	LGGM	GRCh37	2	75897314	75897314	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	43	3	.	.	ENST00000321027.3:c.2053G>C	p.Ala685Pro	p.A685P	ENST00000321027	NM_003203.4	685	Gca/Cca	0	1	1	UPI000013C96B	0	NA	ENST00000321027		ENSG00000005436	1317		46	1.7		HGNC	p.A647P		GCFC2		SNV							ENST00000409857	protein_coding	getma.org/?cm=var&var=hg19,2,75897314,C,G&fts=all		hmmpanther:PTHR12214,hmmpanther:PTHR12214:SF1		A/P		G	low	2187/4440		getma.org/?cm=msa&ty=f&p=GCFC2_HUMAN&rb=601&re=781&var=A685P	tolerated(0.07)	B3KUM5_HUMAN,A4UHR0_HUMAN			YES	GCFC2,missense_variant,p.Ala685Pro,ENST00000321027,NM_003203.4,NM_001201334.1;GCFC2,missense_variant,p.Ala647Pro,ENST00000409857,;GCFC2,missense_variant,p.Ala103Pro,ENST00000427862,;GCFC2,missense_variant,p.Ala10Pro,ENST00000492826,;GCFC2,3_prime_UTR_variant,,ENST00000541687,;MRPL19,intron_variant,,ENST00000409374,;MRPL19,intron_variant,,ENST00000358788,;MRPL19,intron_variant,,ENST00000453233,;MRPL19,intron_variant,,ENST00000492255,;RP11-342K6.2,non_coding_transcript_exon_variant,,ENST00000604219,;GCFC2,3_prime_UTR_variant,,ENST00000472230,;GCFC2,non_coding_transcript_exon_variant,,ENST00000470197,;GCFC2,upstream_gene_variant,,ENST00000470285,;							MODERATE	2053/2346	A685P	GCFC2_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000318690		CCDS1961.1			1	
CNNM4	0	LGGM	GRCh37	2	97427522	97427522	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	44	3	.	.	ENST00000377075.2:c.786C>A	p.Asp262Glu	p.D262E	ENST00000377075	NM_020184.3	262	gaC/gaA	0	1	1	UPI0000207C95	0	NA	ENST00000377075		ENSG00000158158	105		47	2.485		HGNC	p.D262E		CNNM4		SNV			1				ENST00000377075	protein_coding	getma.org/?cm=var&var=hg19,2,97427522,C,A&fts=all		hmmpanther:PTHR12064:SF26,hmmpanther:PTHR12064,Pfam_domain:PF01595		D/E		A	medium	884/4800		getma.org/?cm=msa&ty=f&p=CNNM4_HUMAN&rb=184&re=358&var=D262E	tolerated(0.05)				YES	CNNM4,missense_variant,p.Asp262Glu,ENST00000377075,NM_020184.3;							MODERATE	786/2328	D262E	CNNM4_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000366275		CCDS2024.2			1	
LTBP3	0	LGGM	GRCh37	11	65307086	65307086	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	5	3	.	.	ENST00000301873.5:c.3561G>C	p.Pro1187=	p.P1187=	ENST00000301873	NM_001130144.2	1187	ccG/ccC	0	1	1	UPI00003667EB	0		ENST00000301873		ENSG00000168056	6716		8			HGNC	p.P143P	rs758226823	LTBP3		SNV			1				ENST00000532661	protein_coding			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35		P		G		3830/4443	1.81E-05			Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN			YES	LTBP3,synonymous_variant,p.=,ENST00000301873,NM_001130144.2;LTBP3,synonymous_variant,p.=,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,synonymous_variant,p.=,ENST00000530866,;LTBP3,synonymous_variant,p.=,ENST00000532932,;LTBP3,synonymous_variant,p.=,ENST00000526927,;LTBP3,synonymous_variant,p.=,ENST00000536982,;LTBP3,synonymous_variant,p.=,ENST00000530785,;LTBP3,synonymous_variant,p.=,ENST00000529189,;LTBP3,synonymous_variant,p.=,ENST00000532661,;LTBP3,synonymous_variant,p.=,ENST00000529371,;SCYL1,downstream_gene_variant,,ENST00000524944,;SCYL1,downstream_gene_variant,,ENST00000270176,NM_020680.3;SCYL1,downstream_gene_variant,,ENST00000527009,;SCYL1,downstream_gene_variant,,ENST00000525364,;SCYL1,downstream_gene_variant,,ENST00000420247,NM_001048218.1;SCYL1,downstream_gene_variant,,ENST00000533862,;SCYL1,downstream_gene_variant,,ENST00000279270,;SCYL1,downstream_gene_variant,,ENST00000528545,;SCYL1,downstream_gene_variant,,ENST00000534462,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000529582,;LTBP3,downstream_gene_variant,,ENST00000525443,;SCYL1,downstream_gene_variant,,ENST00000526454,;SCYL1,downstream_gene_variant,,ENST00000531601,;SCYL1,downstream_gene_variant,,ENST00000532290,;SCYL1,downstream_gene_variant,,ENST00000524897,;LTBP3,downstream_gene_variant,,ENST00000530990,;SCYL1,downstream_gene_variant,,ENST00000529981,;LTBP3,downstream_gene_variant,,ENST00000526124,;							LOW	3561/3912		LTBP3_HUMAN			Transcript			.	ENSP00000301873	8.24E-06	CCDS44647.1			1	
FAM57B	0	LGGM	GRCh37	16	30038088	30038088	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	9	4	.	.	ENST00000380495.4:c.286C>T	p.His96Tyr	p.H96Y	ENST00000380495	NM_031478.4	96	Cac/Tac	0	1	1	UPI000022EE26	0	NA	ENST00000380495		ENSG00000149926	25295		13	-0.075		HGNC	p.H96Y		FAM57B		SNV							ENST00000380495	protein_coding	getma.org/?cm=var&var=hg19,16,30038088,G,A&fts=all		PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF8,Pfam_domain:PF03798,SMART_domains:SM00724		H/Y		A	neutral	1018/2313		getma.org/?cm=msa&ty=f&p=FA57B_HUMAN&rb=38&re=254&var=H96Y	tolerated(0.33)	F1T0F5_HUMAN			YES	FAM57B,missense_variant,p.His96Tyr,ENST00000380495,NM_031478.4;FAM57B,missense_variant,p.His46Tyr,ENST00000564806,;FAM57B,missense_variant,p.His46Tyr,ENST00000279389,;FAM57B,missense_variant,p.His96Tyr,ENST00000561666,;C16orf92,intron_variant,,ENST00000569198,;C16orf92,intron_variant,,ENST00000567847,;C16orf92,downstream_gene_variant,,ENST00000300575,NM_001109660.1,NM_001109659.1;DOC2A,upstream_gene_variant,,ENST00000572637,;DOC2A,upstream_gene_variant,,ENST00000570194,;DOC2A,upstream_gene_variant,,ENST00000564075,;FAM57B,3_prime_UTR_variant,,ENST00000569508,;C16orf92,downstream_gene_variant,,ENST00000561910,;							MODERATE	286/825	H96Y	FA57B_HUMAN			Transcript		benign(0.021)	.	ENSP00000369863		CCDS10667.2			1	
PAPOLA	0	LGGM	GRCh37	14	97022245	97022245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	61	4	.	.	ENST00000216277.8:c.1726G>A	p.Val576Ile	p.V576I	ENST00000216277	NM_032632.4	576	Gtt/Att	0	1	1	UPI0000074269	0	NA	ENST00000216277		ENSG00000090060	14981		65	1.59		HGNC	p.V326I		PAPOLA		SNV							ENST00000555626	protein_coding	getma.org/?cm=var&var=hg19,14,97022245,G,A&fts=all		PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF9		V/I		A	low	1946/4519		getma.org/?cm=msa&ty=f&p=PAPOA_HUMAN&rb=509&re=708&var=V576I	tolerated(0.14)	G3V2A0_HUMAN,B7ZA53_HUMAN,B4DZL2_HUMAN			YES	PAPOLA,missense_variant,p.Val576Ile,ENST00000216277,NM_032632.4;PAPOLA,missense_variant,p.Val576Ile,ENST00000392990,;PAPOLA,missense_variant,p.Val326Ile,ENST00000555626,;PAPOLA,missense_variant,p.Val77Ile,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,;							MODERATE	1726/2238	V576I	PAPOA_HUMAN			Transcript		benign(0.007)	.	ENSP00000216277		CCDS9946.1			1	
FOXRED2	0	LGGM	GRCh37	22	36902189	36902189	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	1	4	.	.	ENST00000397224.4:c.281A>G	p.Asn94Ser	p.N94S	ENST00000397224	NM_001102371.1	94	aAc/aGc	0	1		UPI00000744FA	0	getma.org/pdb.php?prot=FXRD2_HUMAN&from=34&to=249&var=N94S	ENST00000216187		ENSG00000100350	26264		5	1.78		HGNC	p.N94S	rs368788841	FOXRED2	6.06E-05	SNV	C:0						ENST00000216187	protein_coding	getma.org/?cm=var&var=hg19,22,36902189,T,C&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF13738,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF53,Superfamily_domains:SSF51905		N/S	C:0.0001	C	low	393/3933	6.02E-05	getma.org/?cm=msa&ty=f&p=FXRD2_HUMAN&rb=34&re=249&var=N94S	deleterious(0)	B0QYA2_HUMAN,A8MUR8_HUMAN				FOXRED2,missense_variant,p.Asn94Ser,ENST00000397224,NM_001102371.1;FOXRED2,missense_variant,p.Asn94Ser,ENST00000216187,NM_024955.5;FOXRED2,missense_variant,p.Asn94Ser,ENST00000397223,;EIF3D,downstream_gene_variant,,ENST00000216190,NM_003753.3;EIF3D,downstream_gene_variant,,ENST00000405442,;EIF3D,downstream_gene_variant,,ENST00000541106,;FOXRED2,downstream_gene_variant,,ENST00000423980,;EIF3D,downstream_gene_variant,,ENST00000478547,;EIF3D,downstream_gene_variant,,ENST00000462641,;							MODERATE	281/2055	N94S	FXRD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216187	4.12E-05	CCDS13929.1			1	
RAP1GAP2	0	LGGM	GRCh37	17	2921370	2921370	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	6	4	.	.	ENST00000254695.8:c.1510C>T	p.Arg504Cys	p.R504C	ENST00000254695	NM_015085.4	504	Cgc/Tgc	0	1	1	UPI0000D622A3	0	NA	ENST00000254695		ENSG00000132359	29176		10	2.62		HGNC	p.R489C		RAP1GAP2		SNV							ENST00000366401	protein_coding	getma.org/?cm=var&var=hg19,17,2921370,C,T&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF17		R/C		T	medium	1600/6661		getma.org/?cm=msa&ty=f&p=RPGP2_HUMAN&rb=465&re=664&var=R504C	deleterious(0.02)				YES	RAP1GAP2,missense_variant,p.Arg504Cys,ENST00000254695,NM_015085.4;RAP1GAP2,missense_variant,p.Arg489Cys,ENST00000366401,NM_001100398.1;RAP1GAP2,missense_variant,p.Arg485Cys,ENST00000540393,;RAP1GAP2,missense_variant,p.Arg504Cys,ENST00000542807,;RAP1GAP2,non_coding_transcript_exon_variant,,ENST00000575979,;							MODERATE	1510/2193	R504C	RPGP2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000254695		CCDS45573.1			1	
TBC1D1	0	LGGM	GRCh37	4	38054776	38054776	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	19	4	.	.	ENST00000261439.4:c.1911-1044G>C		*637*	ENST00000261439	NM_015173.3			0	1	1	UPI0000367235	0		ENST00000261439		ENSG00000065882	11578		23			HGNC	p.V708L		TBC1D1		SNV							ENST00000508802	protein_coding							C		-/5700				H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN			YES	TBC1D1,missense_variant,p.Val708Leu,ENST00000508802,NM_001253912.1;TBC1D1,intron_variant,,ENST00000261439,NM_015173.3,NM_001253914.1,NM_001253915.1;TBC1D1,intron_variant,,ENST00000446803,;TBC1D1,intron_variant,,ENST00000443855,;TBC1D1,intron_variant,,ENST00000421339,;TBC1D1,intron_variant,,ENST00000513936,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000469803,;TBC1D1,downstream_gene_variant,,ENST00000509761,;TBC1D1,3_prime_UTR_variant,,ENST00000510573,;							MODIFIER	-/3507		TBCD1_HUMAN			Transcript			.	ENSP00000261439		CCDS33972.1			1	
TTC30B	0	LGGM	GRCh37	2	178416956	178416956	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	94	4	.	.	ENST00000408939.3:c.536C>T	p.Ala179Val	p.A179V	ENST00000408939	NM_152517.2	179	gCc/gTc	0	1	1	UPI000013DE25	0	NA	ENST00000408939		ENSG00000196659	26425		98	1.32		HGNC	p.A179V		TTC30B		SNV							ENST00000408939	protein_coding	getma.org/?cm=var&var=hg19,2,178416956,G,A&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR20931,hmmpanther:PTHR20931:SF2,Gene3D:1.25.40.10,Pfam_domain:PF13414,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452		A/V		A	low	787/4017		getma.org/?cm=msa&ty=f&p=TT30B_HUMAN&rb=155&re=217&var=A179V	tolerated(0.12)				YES	TTC30B,missense_variant,p.Ala179Val,ENST00000408939,NM_152517.2;							MODERATE	536/1998	A179V	TT30B_HUMAN			Transcript		benign(0.008)	.	ENSP00000386181		CCDS42784.1			1	
BRIP1	0	LGGM	GRCh37	17	59885947	59885947	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	65	4	.	.	ENST00000259008.2:c.799G>A	p.Ala267Thr	p.A267T	ENST00000259008	NM_032043.2	267	Gca/Aca	0	1	1	UPI000013D01F	0	getma.org/pdb.php?prot=FANCJ_HUMAN&from=248&to=415&var=A267T	ENST00000259008		ENSG00000136492	20473		69	1.725		HGNC	p.A267T	COSM706568,COSM1147838	BRIP1		SNV			1			1,1	ENST00000259008	protein_coding	getma.org/?cm=var&var=hg19,17,59885947,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF06733,PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF6,SMART_domains:SM00487,SMART_domains:SM00488,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00604		A/T		T	low	1067/6048		getma.org/?cm=msa&ty=f&p=FANCJ_HUMAN&rb=248&re=415&var=A267T	deleterious(0.01)	J3KS24_HUMAN			YES	BRIP1,missense_variant,p.Ala267Thr,ENST00000259008,NM_032043.2;BRIP1,missense_variant,p.Ala267Thr,ENST00000577598,;					1,1		MODERATE	799/3750	A267T	FANCJ_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000259008		CCDS11631.1			1	
FSCB	0	LGGM	GRCh37	14	44974154	44974155	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	novel	by Submitter	H072813	H072813N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	5	8	.	.	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro	p.P679_A680insSEVQPPPAEEAP	ENST00000340446	NM_032135.3	679	cct/ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	0	1	1	UPI00001FD466	0		ENST00000340446		ENSG00000189139	20494		13			HGNC	p.P679delinsPSEVQPPPAEEAP	rs375198387	FSCB		insertion	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.3937						ENST00000340446	protein_coding			Low_complexity_(Seg):seg		P/PSEVQPPPAEEAP	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.4663	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG		2328-2329/2938							YES	FSCB,inframe_insertion,p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro,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,;							MODERATE	2036-2037/2478		FSCB_HUMAN			Transcript			.	ENSP00000344579		CCDS9679.1			1	
GOLGA6L18	0	LGGM	GRCh37	15	82934787	82934787	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	44	5	.	.	ENST00000559949.1:c.793C>T	p.His265Tyr	p.H265Y	ENST00000559949		265	Cat/Tat	0	1	1	UPI0001662790	0		ENST00000559949		ENSG00000215749	49415		49			HGNC	p.H265Y		GOLGA6L18		SNV							ENST00000559949	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF8,Low_complexity_(Seg):seg		H/Y		A		853/1671			tolerated(1)	D6RB28_HUMAN			YES	GOLGA6L18,missense_variant,p.His265Tyr,ENST00000559949,;GOLGA6L18,non_coding_transcript_exon_variant,,ENST00000560844,;GOLGA6L18,downstream_gene_variant,,ENST00000558035,;							MODERATE	793/1611					Transcript		unknown(0)	.	ENSP00000453573					1	
SNX6	0	LGGM	GRCh37	14	35055493	35055493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	11	5	.	.	ENST00000362031.4:c.773A>G	p.Asn258Ser	p.N258S	ENST00000362031	NM_152233.2	258	aAt/aGt	0	1	1	UPI00006AB832	0	NA	ENST00000362031		ENSG00000129515	14970		16	0.455		HGNC	p.N258S		SNX6		SNV							ENST00000362031	protein_coding	getma.org/?cm=var&var=hg19,14,35055493,T,C&fts=all		hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF120,Pfam_domain:PF09325,PIRSF_domain:PIRSF036924,Superfamily_domains:SSF103657		N/S		C	neutral	804/2001		getma.org/?cm=msa&ty=f&p=SNX6_HUMAN&rb=184&re=400&var=N246S	tolerated(0.33)	Q5QTQ6_HUMAN			YES	SNX6,missense_variant,p.Asn130Ser,ENST00000396526,;SNX6,missense_variant,p.Asn130Ser,ENST00000396534,NM_021249.3;SNX6,missense_variant,p.Asn258Ser,ENST00000362031,NM_152233.2;SNX6,missense_variant,p.Asn134Ser,ENST00000355110,;SNX6,missense_variant,p.Asn221Ser,ENST00000557265,;SNX6,3_prime_UTR_variant,,ENST00000556162,;SNX6,3_prime_UTR_variant,,ENST00000555416,;SNX6,3_prime_UTR_variant,,ENST00000556712,;SNX6,non_coding_transcript_exon_variant,,ENST00000555541,;							MODERATE	773/1257	N246S				Transcript		benign(0.013)	.	ENSP00000355217		CCDS41942.1			1	
TRIM11	0	LGGM	GRCh37	1	228582582	228582582	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	36	6	.	.	ENST00000284551.6:c.1231G>A	p.Glu411Lys	p.E411K	ENST00000284551	NM_145214.2	411	Gag/Aag	0	1	1	UPI000005340A	0	getma.org/pdb.php?prot=TRI11_HUMAN&from=339&to=458&var=E411K	ENST00000284551		ENSG00000154370	16281		42	2.69		HGNC	p.E411K	rs766842071	TRIM11		SNV							ENST00000284551	protein_coding	getma.org/?cm=var&var=hg19,1,228582582,C,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF254,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407		E/K		T	medium	1510/2715		getma.org/?cm=msa&ty=f&p=TRI11_HUMAN&rb=339&re=458&var=E411K	deleterious(0)				YES	TRIM11,missense_variant,p.Glu286Lys,ENST00000493030,;TRIM11,missense_variant,p.Glu411Lys,ENST00000284551,NM_145214.2;TRIM11,missense_variant,p.Glu210Lys,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,;	0.000116						MODERATE	1231/1407	E411K	TRI11_HUMAN			Transcript		benign(0.355)	.	ENSP00000284551	8.24E-06	CCDS31048.1			1	
LAMC1	0	LGGM	GRCh37	1	183105532	183105532	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	36	7	.	.	ENST00000258341.4:c.4126C>T	p.Arg1376Cys	p.R1376C	ENST00000258341	NM_002293.3	1376	Cgt/Tgt	0	1	1	UPI000013CFC7	0	NA	ENST00000258341		ENSG00000135862	6492		43	2.19		HGNC	p.R1376C	rs749477657,COSM4025907	LAMC1		SNV						0,1	ENST00000258341	protein_coding	getma.org/?cm=var&var=hg19,1,183105532,C,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF228,Superfamily_domains:SSF57997		R/C		T	medium	4383/7889	4.52E-05	getma.org/?cm=msa&ty=f&p=LAMC1_HUMAN&rb=1357&re=1401&var=R1376C	deleterious(0.03)	R4GNC7_HUMAN			YES	LAMC1,missense_variant,p.Arg1376Cys,ENST00000258341,NM_002293.3;RP11-181K3.4,downstream_gene_variant,,ENST00000457852,;LAMC1,non_coding_transcript_exon_variant,,ENST00000495918,;LAMC1,downstream_gene_variant,,ENST00000478064,;					0,1		MODERATE	4126/4830	R1376C	LAMC1_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000258341	2.47E-05	CCDS1351.1			1	
ZNF217	0	LGGM	GRCh37	20	52193807	52193807	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	17	7	.	.	ENST00000371471.2:c.1496A>T	p.Tyr499Phe	p.Y499F	ENST00000371471		499	tAc/tTc	0	1		UPI000013C323	0	getma.org/pdb.php?prot=ZN217_HUMAN&from=485&to=510&var=Y499F	ENST00000302342		ENSG00000171940	13009		24	0.925		HGNC	p.Y499F		ZNF217		SNV							ENST00000371471	protein_coding	getma.org/?cm=var&var=hg19,20,52193807,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/F		A	low	1767/5633		getma.org/?cm=msa&ty=f&p=ZN217_HUMAN&rb=465&re=530&var=Y499F	deleterious(0)	A2A326_HUMAN				ZNF217,missense_variant,p.Tyr499Phe,ENST00000371471,;ZNF217,missense_variant,p.Tyr499Phe,ENST00000302342,NM_006526.2;ZNF217,upstream_gene_variant,,ENST00000437222,;RP4-724E16.2,downstream_gene_variant,,ENST00000424252,;							MODERATE	1496/3147	Y499F	ZN217_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000304308		CCDS13443.1			1	
NISCH	0	LGGM	GRCh37	3	52525485	52525485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	17	7	.	.	ENST00000345716.4:c.3860C>T	p.Pro1287Leu	p.P1287L	ENST00000345716	NM_007184.3	1287	cCt/cTt	0	1	1	UPI000036715D	0	NA	ENST00000345716		ENSG00000010322	18006		24	1.04		HGNC	p.P1287L		NISCH		SNV							ENST00000479054	protein_coding	getma.org/?cm=var&var=hg19,3,52525485,C,T&fts=all		hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454		P/L		T	low	3994/5238		getma.org/?cm=msa&ty=f&p=NISCH_HUMAN&rb=474&re=1502&var=P1287L	deleterious(0)				YES	NISCH,missense_variant,p.Pro1287Leu,ENST00000345716,NM_007184.3;NISCH,missense_variant,p.Pro1287Leu,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,;							MODERATE	3860/4515	P1287L	NISCH_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000339958		CCDS33767.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144994681	144994681	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	84	7	.	.	ENST00000369356.4:c.51G>A	p.Lys17=	p.K17=	ENST00000369356	NM_014644.5	17	aaG/aaA	0	1		UPI0000251FAA	0		ENST00000369354		ENSG00000178104	15580		91			HGNC	p.K154K		PDE4DIP		SNV							ENST00000369348	protein_coding			Pfam_domain:PF07989,hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2		K		T		241/8262				I1VE15_HUMAN				PDE4DIP,synonymous_variant,p.=,ENST00000369359,;PDE4DIP,synonymous_variant,p.=,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,synonymous_variant,p.=,ENST00000530740,;PDE4DIP,synonymous_variant,p.=,ENST00000369354,;PDE4DIP,synonymous_variant,p.=,ENST00000313382,NM_001198832.2;PDE4DIP,synonymous_variant,p.=,ENST00000369351,;PDE4DIP,synonymous_variant,p.=,ENST00000369349,NM_001002812.2;PDE4DIP,synonymous_variant,p.=,ENST00000369348,NM_022359.5;PDE4DIP,synonymous_variant,p.=,ENST00000369347,NM_001002810.3,NM_001195260.1;PDE4DIP,synonymous_variant,p.=,ENST00000534536,;PDE4DIP,synonymous_variant,p.=,ENST00000531369,;PDE4DIP,intron_variant,,ENST00000532801,;PDE4DIP,intron_variant,,ENST00000533259,;AL590452.1,downstream_gene_variant,,ENST00000596396,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000532803,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000528552,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533163,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000497529,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533396,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000530472,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000464103,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533845,;PDE4DIP,synonymous_variant,p.=,ENST00000496572,;PDE4DIP,synonymous_variant,p.=,ENST00000526445,;PDE4DIP,synonymous_variant,p.=,ENST00000530822,;PDE4DIP,synonymous_variant,p.=,ENST00000528129,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000527063,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000530078,;							LOW	51/7041		MYOME_HUMAN			Transcript			.	ENSP00000358360		CCDS30824.1			1	
KCNK15	0	LGGM	GRCh37	20	43379002	43379002	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	11	7	.	.	ENST00000372861.3:c.516C>G	p.Ala172=	p.A172=	ENST00000372861	NM_022358.3	172	gcC/gcG	0	1	1	UPI000003EA1C	0		ENST00000372861		ENSG00000124249	13814		18			HGNC	p.A172A		KCNK15		SNV							ENST00000372861	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF07885,PIRSF_domain:PIRSF038061,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		A		G		647/1320							YES	KCNK15,synonymous_variant,p.=,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_001205317.1,NM_182970.3;RP11-445H22.4,upstream_gene_variant,,ENST00000427303,;RP11-445H22.4,upstream_gene_variant,,ENST00000445420,;							LOW	516/993		KCNKF_HUMAN			Transcript			.	ENSP00000361952		CCDS13337.1			1	
C10orf107	0	LGGM	GRCh37	10	63525732	63525732	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	21	8	.	.	ENST00000330194.2:c.588G>T	p.Glu196Asp	p.E196D	ENST00000330194	NM_173554.2	196	gaG/gaT	0	1	1	UPI00000745BC	0	NA	ENST00000330194		ENSG00000183346	28678		29	2.19		HGNC	p.E196D		C10orf107		SNV							ENST00000330194	protein_coding	getma.org/?cm=var&var=hg19,10,63525732,G,T&fts=all				E/D		T	medium	893/1685		getma.org/?cm=msa&ty=f&p=CJ107_HUMAN&rb=1&re=206&var=E196D	tolerated(0.09)				YES	C10orf107,missense_variant,p.Glu196Asp,ENST00000330194,NM_173554.2;							MODERATE	588/627	E196D	CJ107_HUMAN			Transcript		benign(0.328)	.	ENSP00000328698		CCDS7262.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64601708	64601708	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	112	8	.	.	ENST00000498707.1:c.2952C>A	p.Pro984=	p.P984=	ENST00000498707	NM_182920.1	984	ccC/ccA	0	1	1	UPI00000463F0	0		ENST00000498707		ENSG00000163638	13202		120			HGNC	p.P956P		ADAMTS9		SNV							ENST00000295903	protein_coding			hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,SMART_domains:SM00209		P		T		3295/7464				B4E0E4_HUMAN			YES	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,synonymous_variant,p.=,ENST00000481060,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;							LOW	2952/5808		ATS9_HUMAN			Transcript			.	ENSP00000418735		CCDS2903.1			1	
UNC5C	0	LGGM	GRCh37	4	96199508	96199508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	11	8	.	.	ENST00000453304.1:c.496C>T	p.Arg166Trp	p.R166W	ENST00000453304	NM_003728.3	166	Cgg/Tgg	0	1	1	UPI000004E6A5	0	getma.org/pdb.php?prot=UNC5C_HUMAN&from=161&to=256&var=R166W	ENST00000453304		ENSG00000182168	12569		19	3.56		HGNC	p.R166W	rs762175329	UNC5C		SNV							ENST00000504962	protein_coding	getma.org/?cm=var&var=hg19,4,96199508,G,A&fts=all		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7		R/W		A	high	845/9875	1.51E-05	getma.org/?cm=msa&ty=f&p=UNC5C_HUMAN&rb=161&re=256&var=R166W	deleterious(0)	Q4W5H4_HUMAN			YES	UNC5C,missense_variant,p.Arg166Trp,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Arg166Trp,ENST00000513796,;UNC5C,missense_variant,p.Arg166Trp,ENST00000506749,;UNC5C,missense_variant,p.Arg166Trp,ENST00000504962,;							MODERATE	496/2796	R166W	UNC5C_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000406022	8.24E-06	CCDS3643.1			1	
RUNDC3A	0	LGGM	GRCh37	17	42390845	42390845	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	30	8	.	.	ENST00000426726.3:c.432G>A	p.Thr144=	p.T144=	ENST00000426726	NM_001144825.1	144	acG/acA	0	1	1	UPI0000EE7B82	0		ENST00000426726		ENSG00000108309	16984		38			HGNC	p.T139T		RUNDC3A		SNV							ENST00000590941	protein_coding			Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF38,Low_complexity_(Seg):seg,SMART_domains:SM00593		T		A		706/2048							YES	RUNDC3A,synonymous_variant,p.=,ENST00000426726,NM_001144825.1;RUNDC3A,synonymous_variant,p.=,ENST00000225441,NM_001144826.1,NM_006695.4;RUNDC3A,synonymous_variant,p.=,ENST00000590941,;AC003102.3,intron_variant,,ENST00000588097,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000587483,;RUNDC3A,non_coding_transcript_exon_variant,,ENST00000590834,;RUNDC3A,upstream_gene_variant,,ENST00000588564,;RUNDC3A,upstream_gene_variant,,ENST00000593079,;							LOW	432/1341		RUN3A_HUMAN			Transcript			.	ENSP00000410862		CCDS45698.1			1	
TRAV27	0	LGGM	GRCh37	14	22616455	22616455	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	23	9	.	.	ENST00000390457.2:c.196A>C	p.Thr66Pro	p.T66P	ENST00000390457		66	Aca/Cca	0	1	1	UPI000011D12A	0		ENST00000390457		ENSG00000211809	12125		32			HGNC	p.T66P		TRAV27		SNV							ENST00000390457	TR_V_gene			Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		T/P		C		293/425			tolerated(0.12)				YES	TRAV27,missense_variant,p.Thr66Pro,ENST00000390457,;							MODERATE	196/328					Transcript		possibly_damaging(0.543)	.	ENSP00000451735					1	
TMCC1	0	LGGM	GRCh37	3	129547012	129547026	+	inframe_deletion	In_Frame_Del	DEL	CACATCATGTGGAGA	CACATCATGTGGAGA	-	novel	by Submitter	H072813	H072813N.bam	CACATCATGTGGAGA	CACATCATGTGGAGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	24	9	.	.	ENST00000393238.3:c.196_210del	p.Ser66_Val70del	p.S66_V70del	ENST00000393238	NM_001017395.3	66	TCTCCACATGATGTG/-	0	1	1	UPI0000197B80	0		ENST00000393238		ENSG00000172765	29116		33			HGNC	p.66_70del		TMCC1		deletion							ENST00000393238	protein_coding			hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11		SPHDV/-		-		537-551/5992				Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN			YES	TMCC1,inframe_deletion,p.Ser66_Val70del,ENST00000393238,NM_001017395.3;TMCC1,intron_variant,,ENST00000426664,NM_001128224.2;TMCC1,intron_variant,,ENST00000505616,;TMCC1,intron_variant,,ENST00000513411,;TMCC1,downstream_gene_variant,,ENST00000512902,;TMCC1,intron_variant,,ENST00000505924,;TMCC1,downstream_gene_variant,,ENST00000508869,;							MODERATE	196-210/1962		TMCC1_HUMAN			Transcript			.	ENSP00000376930		CCDS33855.1			1	
SOGA1	0	LGGM	GRCh37	20	35433163	35433163	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	16	9	.	.	ENST00000237536.4:c.3062C>T	p.Ala1021Val	p.A1021V	ENST00000237536	NM_080627.2	1021	gCa/gTa	0	1	1	UPI0000E5A319	0	NA	ENST00000237536		ENSG00000149639	16111		25	1.385		HGNC	p.A624V		SOGA1		SNV							ENST00000456801	protein_coding	getma.org/?cm=var&var=hg19,20,35433163,G,A&fts=all		hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF1		A/V		A	low	3404/14371		getma.org/?cm=msa&ty=f&p=K0889_HUMAN&rb=762&re=961&var=A783V	deleterious(0.02)	I3L0I1_HUMAN,F2FB34_HUMAN			YES	SOGA1,missense_variant,p.Ala1021Val,ENST00000237536,NM_080627.2;SOGA1,missense_variant,p.Ala783Val,ENST00000357779,;SOGA1,missense_variant,p.Ala624Val,ENST00000456801,;SOGA1,missense_variant,p.Ala783Val,ENST00000279034,NM_199181.2;SOGA1,missense_variant,p.Ala635Val,ENST00000465671,;							MODERATE	3062/4986	A783V	SOGA1_HUMAN			Transcript		benign(0.012)	.	ENSP00000237536		CCDS54459.1			1	
SNX19	0	LGGM	GRCh37	11	130785739	130785739	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	22	9	.	.	ENST00000265909.4:c.96G>A	p.Val32=	p.V32=	ENST00000265909	NM_014758.2	32	gtG/gtA	0	1	1	UPI000013D6A5	0		ENST00000265909		ENSG00000120451	21532		31			HGNC	p.V32V	rs766480824	SNX19	6.06E-05	SNV							ENST00000533214	protein_coding			hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		V		T		666/6535				E9PLV3_HUMAN,E9PJV7_HUMAN			YES	SNX19,synonymous_variant,p.=,ENST00000265909,NM_014758.2;SNX19,synonymous_variant,p.=,ENST00000533214,;SNX19,intron_variant,,ENST00000539184,;SNX19,intron_variant,,ENST00000530356,;SNX19,intron_variant,,ENST00000528555,;SNX19,intron_variant,,ENST00000533318,;SNX19,intron_variant,,ENST00000531608,;							LOW	96/2979		SNX19_HUMAN			Transcript			.	ENSP00000265909	8.24E-06	CCDS31721.1			1	
ARHGAP9	0	LGGM	GRCh37	12	57867886	57867886	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	11	9	.	.	ENST00000393791.3:c.1857C>T	p.Leu619=	p.L619=	ENST00000393791	NM_032496.2	619	ctC/ctT	0	1	1	UPI000007131B	0		ENST00000393791		ENSG00000123329	14130		20			HGNC	p.L638L		ARHGAP9		SNV							ENST00000356411	protein_coding			PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		L		A		1996/2597				F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN			YES	ARHGAP9,synonymous_variant,p.=,ENST00000393797,;ARHGAP9,synonymous_variant,p.=,ENST00000550288,;ARHGAP9,synonymous_variant,p.=,ENST00000356411,;ARHGAP9,synonymous_variant,p.=,ENST00000393791,NM_032496.2;ARHGAP9,synonymous_variant,p.=,ENST00000424809,NM_001080157.1;ARHGAP9,synonymous_variant,p.=,ENST00000430041,NM_001080156.1;ARHGAP9,synonymous_variant,p.=,ENST00000550130,;ARHGAP9,intron_variant,,ENST00000550399,;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,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552953,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550440,;ARHGAP9,downstream_gene_variant,,ENST00000552420,;ARHGAP9,downstream_gene_variant,,ENST00000548148,;ARHGAP9,downstream_gene_variant,,ENST00000547216,;ARHGAP9,downstream_gene_variant,,ENST00000546704,;ARHGAP9,downstream_gene_variant,,ENST00000551000,;ARHGAP9,downstream_gene_variant,,ENST00000551574,;							LOW	1857/2196		RHG09_HUMAN			Transcript			.	ENSP00000377380		CCDS8941.2			1	
CD109	0	LGGM	GRCh37	6	74477806	74477806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	27	10	.	.	ENST00000287097.5:c.1526T>C	p.Val509Ala	p.V509A	ENST00000287097		509	gTa/gCa	0	1	1	UPI000013DE92	0	getma.org/pdb.php?prot=CD109_HUMAN&from=468&to=599&var=V509A	ENST00000287097		ENSG00000156535	21685		37	-1.1		HGNC	p.V509A		CD109		SNV			1				ENST00000287097	protein_coding	getma.org/?cm=var&var=hg19,6,74477806,T,C&fts=all		Pfam_domain:PF07703,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29		V/A		C	neutral	1638/9130		getma.org/?cm=msa&ty=f&p=CD109_HUMAN&rb=468&re=599&var=V509A	tolerated(0.74)	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN			YES	CD109,missense_variant,p.Val509Ala,ENST00000437994,NM_133493.3,NM_001159587.1;CD109,missense_variant,p.Val432Ala,ENST00000422508,NM_001159588.1;CD109,missense_variant,p.Val509Ala,ENST00000287097,;							MODERATE	1526/4338	V509A	CD109_HUMAN			Transcript		benign(0.004)	.	ENSP00000287097		CCDS4982.1			1	
CYB561D2	0	LGGM	GRCh37	3	50388920	50388920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	25	10	.	.	ENST00000418577.1:c.56C>A	p.Ser19Tyr	p.S19Y	ENST00000418577		19	tCt/tAt	0	1		UPI000000DC32	0	NA	ENST00000232508		ENSG00000114395	30253		35	1.795		HGNC	p.S19Y		CYB561D2		SNV							ENST00000425346	protein_coding	getma.org/?cm=var&var=hg19,3,50388920,C,A&fts=all		PROSITE_profiles:PS50939,hmmpanther:PTHR15422,hmmpanther:PTHR15422:SF21		S/Y		A	low	287/1225		getma.org/?cm=msa&ty=f&p=C56D2_HUMAN&rb=14&re=217&var=S19Y	deleterious(0.01)					CYB561D2,missense_variant,p.Ser19Tyr,ENST00000418577,;CYB561D2,missense_variant,p.Ser19Tyr,ENST00000425346,;CYB561D2,missense_variant,p.Ser19Tyr,ENST00000232508,NM_007022.3;CYB561D2,missense_variant,p.Ser19Tyr,ENST00000424512,;XXcos-LUCA11.5,missense_variant,p.Ser19Tyr,ENST00000606589,;ZMYND10,upstream_gene_variant,,ENST00000231749,NM_015896.2;TMEM115,downstream_gene_variant,,ENST00000266025,NM_007024.4;NPRL2,upstream_gene_variant,,ENST00000232501,NM_006545.4;CYB561D2,non_coding_transcript_exon_variant,,ENST00000419046,;CYB561D2,non_coding_transcript_exon_variant,,ENST00000490926,;NPRL2,upstream_gene_variant,,ENST00000493465,;NPRL2,upstream_gene_variant,,ENST00000467294,;NPRL2,upstream_gene_variant,,ENST00000480296,;NPRL2,upstream_gene_variant,,ENST00000461020,;NPRL2,upstream_gene_variant,,ENST00000487632,;NPRL2,upstream_gene_variant,,ENST00000479512,;NPRL2,upstream_gene_variant,,ENST00000451194,;NPRL2,upstream_gene_variant,,ENST00000476064,;NPRL2,upstream_gene_variant,,ENST00000433381,;NPRL2,upstream_gene_variant,,ENST00000429366,;NPRL2,upstream_gene_variant,,ENST00000418825,;NPRL2,upstream_gene_variant,,ENST00000433999,;NPRL2,upstream_gene_variant,,ENST00000469839,;NPRL2,upstream_gene_variant,,ENST00000448302,;NPRL2,upstream_gene_variant,,ENST00000493907,;NPRL2,upstream_gene_variant,,ENST00000492805,;							MODERATE	56/669	S19Y	C56D2_HUMAN			Transcript		benign(0.401)	.	ENSP00000232508		CCDS2827.1			1	
CDH26	0	LGGM	GRCh37	20	58562569	58562569	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	14	11	.	.	ENST00000348616.4:c.899A>T	p.Asp300Val	p.D300V	ENST00000348616	NM_177980.2	300	gAt/gTt	0	1	1	UPI000013CB55	0	getma.org/pdb.php?prot=CAD26_HUMAN&from=280&to=388&var=D300V	ENST00000348616		ENSG00000124215	15902		25	3.38		HGNC	p.D300V		CDH26		SNV							ENST00000348616	protein_coding	getma.org/?cm=var&var=hg19,20,58562569,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF78,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/V		T	medium	1199/3182		getma.org/?cm=msa&ty=f&p=CAD26_HUMAN&rb=280&re=388&var=D300V	deleterious(0)				YES	CDH26,missense_variant,p.Asp300Val,ENST00000348616,NM_177980.2;CDH26,missense_variant,p.Asp300Val,ENST00000244047,;CDH26,upstream_gene_variant,,ENST00000370991,;CDH26,non_coding_transcript_exon_variant,,ENST00000477058,;							MODERATE	899/2499	D300V	CAD26_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339390		CCDS13485.1			1	
SLC26A2	0	LGGM	GRCh37	5	149361356	149361356	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	34	11	.	.	ENST00000286298.4:c.2200C>A	p.Leu734Met	p.L734M	ENST00000286298	NM_000112.3	734	Ctg/Atg	0	1	1	UPI000013DE3D	0	NA	ENST00000286298		ENSG00000155850	10994		45	0.69		HGNC	p.L734M		SLC26A2		SNV			1				ENST00000286298	protein_coding	getma.org/?cm=var&var=hg19,5,149361356,C,A&fts=all				L/M		A	neutral	2468/8080		getma.org/?cm=msa&ty=f&p=S26A2_HUMAN&rb=686&re=739&var=L734M	tolerated_low_confidence(0.11)	H0YA38_HUMAN,C9JAN6_HUMAN			YES	SLC26A2,missense_variant,p.Leu734Met,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;							MODERATE	2200/2220	L734M	S26A2_HUMAN			Transcript		benign(0.021)	.	ENSP00000286298		CCDS4300.1			1	
COG3	0	LGGM	GRCh37	13	46070367	46070367	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	5	12	.	.	ENST00000349995.5:c.1408A>G	p.Ile470Val	p.I470V	ENST00000349995	NM_031431.3	470	Atc/Gtc	0	1	1	UPI0000366968	0	NA	ENST00000349995		ENSG00000136152	18619		17	2.3		HGNC	p.I470V		COG3		SNV							ENST00000349995	protein_coding	getma.org/?cm=var&var=hg19,13,46070367,A,G&fts=all		hmmpanther:PTHR13302		I/V		G	medium	1520/4498		getma.org/?cm=msa&ty=f&p=COG3_HUMAN&rb=292&re=720&var=I470V	tolerated(0.25)				YES	COG3,missense_variant,p.Ile470Val,ENST00000349995,NM_031431.3;COG3,non_coding_transcript_exon_variant,,ENST00000465942,;							MODERATE	1408/2487	I470V	COG3_HUMAN			Transcript		benign(0.288)	.	ENSP00000258654		CCDS9398.1			1	
ALAS1	0	LGGM	GRCh37	3	52236673	52236673	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	17	12	.	.	ENST00000394965.2:c.350A>G	p.Gln117Arg	p.Q117R	ENST00000394965	NM_000688.5	117	cAg/cGg	0	1		UPI0000001230	0	NA	ENST00000310271		ENSG00000023330	396		29	1.445		HGNC	p.Q117R		ALAS1		SNV							ENST00000469224	protein_coding	getma.org/?cm=var&var=hg19,3,52236673,A,G&fts=all		hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF50,Pfam_domain:PF09029		Q/R		G	low	495/2212		getma.org/?cm=msa&ty=f&p=HEM1_HUMAN&rb=77&re=139&var=Q117R	tolerated(0.23)	Q5JAM2_HUMAN				ALAS1,missense_variant,p.Gln117Arg,ENST00000394965,NM_000688.5;ALAS1,missense_variant,p.Gln117Arg,ENST00000484952,;ALAS1,missense_variant,p.Gln117Arg,ENST00000310271,NM_199166.2;ALAS1,missense_variant,p.Gln117Arg,ENST00000469224,;ALAS1,upstream_gene_variant,,ENST00000493402,;							MODERATE	350/1923	Q117R	HEM1_HUMAN			Transcript		benign(0.141)	.	ENSP00000309259		CCDS2847.1			1	
DPPA2	0	LGGM	GRCh37	3	109033389	109033389	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	22	12	.	.	ENST00000478945.1:c.1A>T	p.Met1?	p.M1?	ENST00000478945	NM_138815.3	1	Atg/Ttg	0	1	1	UPI000007143F	0	NA	ENST00000478945		ENSG00000163530	19197		34	0		HGNC	p.M1L		DPPA2		SNV							ENST00000478945	protein_coding	getma.org/?cm=var&var=hg19,3,109033389,T,A&fts=all				M/L		A	NA	248/1383		http://getma.org/?cm=msa&ty=f&p=DPPA2_HUMAN&rb=1&re=129&var=M1L	deleterious(0.04)				YES	DPPA2,start_lost,p.Met1?,ENST00000478945,NM_138815.3;							HIGH	1/897	M1L	DPPA2_HUMAN			Transcript		benign(0.011)	.	ENSP00000417710		CCDS2956.1			1	
TRAV12-2	0	LGGM	GRCh37	14	22356517	22356517	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	41	12	.	.	ENST00000390437.2:c.175C>T	p.Gln59Ter	p.Q59*	ENST00000390437		59	Caa/Taa	0	1	1	UPI000204A973	0		ENST00000390437		ENSG00000211789	12106		53			HGNC	p.Q59X		TRAV12-2		SNV							ENST00000390437	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19343,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		Q/*		T		280/445							YES	TRAV12-2,stop_gained,p.Gln59Ter,ENST00000390437,;							HIGH	175/340					Transcript			.	ENSP00000437362					1	
COL11A1	0	LGGM	GRCh37	1	103488424	103488424	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	24	14	.	.	ENST00000370096.3:c.1119G>T	p.Leu373=	p.L373=	ENST00000370096	NM_001854.3	373	ctG/ctT	0	1	1	UPI00002053EF	0		ENST00000370096		ENSG00000060718	2186		38			HGNC	p.L373L		COL11A1		SNV			1				ENST00000370096	protein_coding			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42		L		A		1432/7286				Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	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.=,ENST00000427239,;COL11A1,intron_variant,,ENST00000512756,NM_080630.3;							LOW	1119/5421		COBA1_HUMAN			Transcript			.	ENSP00000359114		CCDS778.1			1	
NCEH1	0	LGGM	GRCh37	3	172351455	172351455	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	34	14	.	.	ENST00000538775.1:c.1157A>T	p.Glu386Val	p.E386V	ENST00000538775	NM_001146276.1	386	gAg/gTg	0	1	1	UPI000199A4B7	0	getma.org/pdb.php?prot=NCEH1_HUMAN&from=294&to=382&var=E346V	ENST00000538775		ENSG00000144959	29260		48	3.16		HGNC	p.E346V		NCEH1		SNV							ENST00000475381	protein_coding	getma.org/?cm=var&var=hg19,3,172351455,T,A&fts=all		Superfamily_domains:SSF53474,PIRSF_domain:PIRSF037251,Pfam_domain:PF07859,Gene3D:3.40.50.1820,hmmpanther:PTHR23024:SF108,hmmpanther:PTHR23024		E/V		A	medium	1295/4315		getma.org/?cm=msa&ty=f&p=NCEH1_HUMAN&rb=294&re=382&var=E346V	deleterious(0)	F5H7K4_HUMAN			YES	NCEH1,missense_variant,p.Glu346Val,ENST00000475381,;NCEH1,missense_variant,p.Glu386Val,ENST00000538775,NM_001146276.1;NCEH1,missense_variant,p.Glu378Val,ENST00000273512,NM_020792.4,NM_001146277.1;NCEH1,missense_variant,p.Glu213Val,ENST00000543711,NM_001146278.1;NCEH1,downstream_gene_variant,,ENST00000424772,;NCEH1,downstream_gene_variant,,ENST00000421723,;NCEH1,downstream_gene_variant,,ENST00000470419,;							MODERATE	1157/1347	E346V				Transcript		probably_damaging(0.999)	.	ENSP00000442464		CCDS54682.1			1	
PTPRJ	0	LGGM	GRCh37	11	48152107	48152107	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	15	14	.	.	ENST00000418331.2:c.1454A>C	p.His485Pro	p.H485P	ENST00000418331	NM_002843.3	485	cAt/cCt	0	1	1	UPI00004564C8	0	NA	ENST00000418331		ENSG00000149177	9673		29	1.1		HGNC	p.H485P	rs747128432	PTPRJ	6.06E-05	SNV							ENST00000418331	protein_coding	getma.org/?cm=var&var=hg19,11,48152107,A,C&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211,SMART_domains:SM00060,Superfamily_domains:SSF49265		H/P		C	low	1806/5122		getma.org/?cm=msa&ty=f&p=PTPRJ_HUMAN&rb=453&re=538&var=H485P	tolerated(0.2)	Q9NPR5_HUMAN			YES	PTPRJ,missense_variant,p.His485Pro,ENST00000418331,NM_002843.3;PTPRJ,missense_variant,p.His485Pro,ENST00000440289,NM_001098503.1;							MODERATE	1454/4014	H485P	PTPRJ_HUMAN			Transcript		benign(0.02)	.	ENSP00000400010	8.24E-06	CCDS7945.1			1	
PLA2G16	0	LGGM	GRCh37	11	63357579	63357579	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	31	14	.	.	ENST00000323646.5:c.380G>A	p.Ser127Asn	p.S127N	ENST00000323646	NM_007069.3	127	aGt/aAt	0	1	1	UPI000012CBE4	0	NA	ENST00000323646		ENSG00000176485	17825		45	2.42		HGNC	p.S127N		PLA2G16		SNV							ENST00000415826	protein_coding	getma.org/?cm=var&var=hg19,11,63357579,C,T&fts=all		hmmpanther:PTHR13943:SF33,hmmpanther:PTHR13943		S/N		T	medium	735/2594		getma.org/?cm=msa&ty=f&p=PAG16_HUMAN&rb=127&re=162&var=S127N	deleterious(0)	F5H7E5_HUMAN			YES	PLA2G16,missense_variant,p.Ser127Asn,ENST00000323646,NM_007069.3;PLA2G16,missense_variant,p.Ser127Asn,ENST00000415826,NM_001128203.1;PLA2G16,downstream_gene_variant,,ENST00000540943,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;PLA2G16,downstream_gene_variant,,ENST00000544269,;							MODERATE	380/489	S127N	HRSL3_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000320337		CCDS8047.1			1	
FBXO47	0	LGGM	GRCh37	17	37099030	37099030	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	18	15	.	.	ENST00000378079.2:c.1083+1G>A		p.X361_splice	ENST00000378079	NM_001008777.2			0	1	1	UPI00004DDAF1	0		ENST00000378079		ENSG00000204952	31969		33			HGNC	-		FBXO47		SNV							ENST00000378079	protein_coding							T		-/2302							YES	FBXO47,splice_donor_variant,,ENST00000378079,NM_001008777.2;							HIGH	1083/1359		FBX47_HUMAN			Transcript			.	ENSP00000367319		CCDS32639.1			1	
DIRAS3	0	LGGM	GRCh37	1	68512801	68512801	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	32	15	.	.	ENST00000370981.1:c.180C>A	p.Gly60=	p.G60=	ENST00000370981		60	ggC/ggA	0	1	1	UPI0000133893	0		ENST00000370981		ENSG00000162595	687		47			HGNC	p.G60G		DIRAS3		SNV							ENST00000370981	protein_coding			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		G		T		817/1973							YES	DIRAS3,synonymous_variant,p.=,ENST00000370981,;DIRAS3,synonymous_variant,p.=,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,;							LOW	180/690		DIRA3_HUMAN			Transcript			.	ENSP00000360020		CCDS641.1			1	
HIST1H3A	0	LGGM	GRCh37	6	26020731	26020731	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	21	15	.	.	ENST00000357647.3:c.14A>T	p.Lys5Met	p.K5M	ENST00000357647	NM_003529.2	5	aAg/aTg	0	1	1	UPI00000003C7	0	getma.org/pdb.php?prot=H31_HUMAN&from=1&to=57&var=K5M	ENST00000357647		ENSG00000198366	4766		36	2.825		HGNC	p.K5M		HIST1H3A		SNV							ENST00000357647	protein_coding	getma.org/?cm=var&var=hg19,6,26020731,A,T&fts=all		hmmpanther:PTHR11426,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622		K/M		T	medium	14/469		getma.org/?cm=msa&ty=f&p=H31_HUMAN&rb=1&re=57&var=K5M	deleterious_low_confidence(0)				YES	HIST1H3A,missense_variant,p.Lys5Met,ENST00000357647,NM_003529.2;HIST1H1A,upstream_gene_variant,,ENST00000244573,NM_005325.3;HIST1H4A,upstream_gene_variant,,ENST00000359907,NM_003538.3;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;							MODERATE	14/411	K5M	H31_HUMAN			Transcript		benign(0.026)	.	ENSP00000350275		CCDS4570.1			1	
NUP160	0	LGGM	GRCh37	11	47819342	47819342	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	19	15	.	.	ENST00000378460.2:c.3278A>T	p.Asn1093Ile	p.N1093I	ENST00000378460	NM_015231.1	1093	aAt/aTt	0	1	1	UPI0000185FEB	0	NA	ENST00000378460		ENSG00000030066	18017		34	1.7		HGNC	p.N979I		NUP160		SNV							ENST00000528071	protein_coding	getma.org/?cm=var&var=hg19,11,47819342,T,A&fts=all		hmmpanther:PTHR21286		N/I		A	low	3325/5376		getma.org/?cm=msa&ty=f&p=NU160_HUMAN&rb=978&re=1177&var=N1093I	deleterious(0)				YES	NUP160,missense_variant,p.Asn1093Ile,ENST00000378460,NM_015231.1;NUP160,missense_variant,p.Asn979Ile,ENST00000530326,;NUP160,missense_variant,p.Asn979Ile,ENST00000528071,;RP11-692M12.5,downstream_gene_variant,,ENST00000604478,;							MODERATE	3278/4311	N1093I	NU160_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000367721		CCDS31484.1			1	
FMNL1	0	LGGM	GRCh37	17	43322196	43322196	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	40	16	.	.	ENST00000331495.3:c.2528C>G	p.Ala843Gly	p.A843G	ENST00000331495	NM_005892.3	843	gCc/gGc	0	1	1	UPI0000246EE9	0	getma.org/pdb.php?prot=FMNL_HUMAN&from=632&to=998&var=A843G	ENST00000331495		ENSG00000184922	1212		56	3.435		HGNC	p.A843G		FMNL1		SNV							ENST00000331495	protein_coding	getma.org/?cm=var&var=hg19,17,43322196,C,G&fts=all		Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,SMART_domains:SM00498,Superfamily_domains:SSF101447		A/G		G	medium	2864/4101		getma.org/?cm=msa&ty=f&p=FMNL_HUMAN&rb=632&re=998&var=A843G	deleterious(0)				YES	FMNL1,missense_variant,p.Ala843Gly,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Ala843Gly,ENST00000328118,;FMNL1,missense_variant,p.Ala421Gly,ENST00000587489,;FMNL1,missense_variant,p.Ala173Gly,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,non_coding_transcript_exon_variant,,ENST00000587856,;							MODERATE	2528/3303	A843G	FMNL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329219		CCDS11497.1			1	
RCOR3	0	LGGM	GRCh37	1	211444611	211444611	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	36	16	.	.	ENST00000419091.2:c.261G>A	p.Met87Ile	p.M87I	ENST00000419091	NM_001136223.1	87	atG/atA	0	1		UPI000015F3A2	0	NA	ENST00000367005		ENSG00000117625	25594		52	2.36		HGNC	p.M29I		RCOR3		SNV							ENST00000534478	protein_coding	getma.org/?cm=var&var=hg19,1,211444611,G,A&fts=all		PROSITE_profiles:PS51156,hmmpanther:PTHR16089,Pfam_domain:PF01448		M/I		A	medium	228/4246		getma.org/?cm=msa&ty=f&p=RCOR3_HUMAN&rb=1&re=54&var=M29I	deleterious(0.01)	E9PR63_HUMAN,E9PQE5_HUMAN				RCOR3,missense_variant,p.Met29Ile,ENST00000367005,NM_018254.3;RCOR3,missense_variant,p.Met87Ile,ENST00000367006,NM_001136224.2;RCOR3,missense_variant,p.Met87Ile,ENST00000419091,NM_001136223.1;RCOR3,missense_variant,p.Met87Ile,ENST00000452621,NM_001136225.1;RCOR3,missense_variant,p.Met29Ile,ENST00000534478,;RCOR3,missense_variant,p.Met29Ile,ENST00000533469,;RCOR3,missense_variant,p.Met119Ile,ENST00000528926,;RCOR3,missense_variant,p.Met29Ile,ENST00000529572,;RCOR3,non_coding_transcript_exon_variant,,ENST00000528408,;							MODERATE	87/1488	M29I	RCOR3_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000355972		CCDS31016.1			1	
FER	0	LGGM	GRCh37	5	108294968	108294968	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	32	16	.	.	ENST00000281092.4:c.1576C>T	p.Gln526Ter	p.Q526*	ENST00000281092	NM_005246.2	526	Caa/Taa	0	1	1	UPI000013DC55	0	NA	ENST00000281092		ENSG00000151422	3655		48	0		HGNC	p.Q351X	COSM51894	FER		SNV						1	ENST00000438717	protein_coding	getma.org/?cm=var&var=hg19,5,108294968,C,T&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF227,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF55550,Prints_domain:PR00401		Q/*		T	NA	1960/12119		NA					YES	FER,stop_gained,p.Gln526Ter,ENST00000281092,NM_005246.2;FER,stop_gained,p.Gln351Ter,ENST00000438717,;FER,3_prime_UTR_variant,,ENST00000536402,;FER,non_coding_transcript_exon_variant,,ENST00000505323,;FER,3_prime_UTR_variant,,ENST00000504143,;					1		HIGH	1576/2469	Q526*	FER_HUMAN			Transcript			.	ENSP00000281092		CCDS4098.1			1	
IDE	0	LGGM	GRCh37	10	94225546	94225546	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	26	17	.	.	ENST00000265986.6:c.2375A>C	p.Glu792Ala	p.E792A	ENST00000265986	NM_004969.3	792	gAg/gCg	0	1	1	UPI000013D6B6	0	getma.org/pdb.php?prot=IDE_HUMAN&from=706&to=889&var=E792A	ENST00000265986		ENSG00000119912	5381		43	2.615		HGNC	p.E792A		IDE		SNV							ENST00000265986	protein_coding	getma.org/?cm=var&var=hg19,10,94225546,T,G&fts=all		Superfamily_domains:SSF63411,Pfam_domain:PF05193,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851		E/A		G	medium	2432/5877		getma.org/?cm=msa&ty=f&p=IDE_HUMAN&rb=706&re=889&var=E792A	deleterious(0.03)				YES	IDE,missense_variant,p.Glu792Ala,ENST00000265986,NM_004969.3;IDE,missense_variant,p.Glu237Ala,ENST00000371581,NM_001165946.1;IDE,non_coding_transcript_exon_variant,,ENST00000496903,;							MODERATE	2375/3060	E792A	IDE_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000265986		CCDS7421.1			1	
BIRC2	0	LGGM	GRCh37	11	102248358	102248358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	18	17	.	.	ENST00000227758.2:c.1498A>G	p.Thr500Ala	p.T500A	ENST00000227758	NM_001166.4	500	Aca/Gca	0	1	1	UPI00000015E7	0	getma.org/pdb.php?prot=BIRC2_HUMAN&from=458&to=542&var=T500A	ENST00000227758		ENSG00000110330	590		35	1.5		HGNC	p.T35A		BIRC2		SNV							ENST00000531259	protein_coding	getma.org/?cm=var&var=hg19,11,102248358,A,G&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF00619,PROSITE_profiles:PS50209,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF79,SMART_domains:SM00114,Superfamily_domains:SSF47986		T/A		G	low	2897/3743		getma.org/?cm=msa&ty=f&p=BIRC2_HUMAN&rb=458&re=542&var=T500A	tolerated(0.16)	E9PNM6_HUMAN,E9PMH5_HUMAN,E9PIW1_HUMAN,E9PI77_HUMAN			YES	BIRC2,missense_variant,p.Thr500Ala,ENST00000227758,NM_001166.4,NM_001256163.1;BIRC2,missense_variant,p.Thr479Ala,ENST00000532672,;BIRC2,missense_variant,p.Thr451Ala,ENST00000530675,NM_001256166.1;BIRC2,missense_variant,p.Thr162Ala,ENST00000533742,;BIRC2,missense_variant,p.Thr35Ala,ENST00000531259,;BIRC2,non_coding_transcript_exon_variant,,ENST00000527910,;BIRC2,downstream_gene_variant,,ENST00000534130,;							MODERATE	1498/1857	T500A	BIRC2_HUMAN			Transcript		benign(0.025)	.	ENSP00000227758		CCDS8316.1			1	
CENPJ	0	LGGM	GRCh37	13	25480385	25480385	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	12	17	.	.	ENST00000381884.4:c.1791A>T	p.Val597=	p.V597=	ENST00000381884	NM_018451.4	597	gtA/gtT	0	1	1	UPI000013DC8A	0		ENST00000381884		ENSG00000151849	17272		29			HGNC	p.V597V		CENPJ		SNV			1				ENST00000381884	protein_coding			hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF19		V		A		1977/4347				B3KVU9_HUMAN			YES	CENPJ,synonymous_variant,p.=,ENST00000381884,NM_018451.4;CENPJ,synonymous_variant,p.=,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000418179,;							LOW	1791/4017		CENPJ_HUMAN			Transcript			.	ENSP00000371308		CCDS9310.1			1	
NPAS4	0	LGGM	GRCh37	11	66190244	66190244	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	25	18	.	.	ENST00000311034.2:c.530C>T	p.Pro177Leu	p.P177L	ENST00000311034	NM_178864.3	177	cCa/cTa	0	1	1	UPI0000074744	0	NA	ENST00000311034		ENSG00000174576	18983		43	1.48		HGNC	p.P177L		NPAS4		SNV							ENST00000525148	protein_coding	getma.org/?cm=var&var=hg19,11,66190244,C,T&fts=all		hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043		P/L		T	low	706/3303		getma.org/?cm=msa&ty=f&p=NPAS4_HUMAN&rb=1&re=200&var=P177L	tolerated(0.06)				YES	NPAS4,missense_variant,p.Pro177Leu,ENST00000311034,NM_178864.3;NPAS4,missense_variant,p.Pro177Leu,ENST00000525148,;NPAS4,upstream_gene_variant,,ENST00000524617,;							MODERATE	530/2409	P177L	NPAS4_HUMAN			Transcript		benign(0.132)	.	ENSP00000311196		CCDS8138.1			1	
ZNF280A	0	LGGM	GRCh37	22	22868593	22868593	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	32	18	.	.	ENST00000302097.3:c.1362C>T	p.Ser454=	p.S454=	ENST00000302097	NM_080740.3	454	tcC/tcT	0	1	1	UPI000013E78F	0		ENST00000302097		ENSG00000169548	18597		50			HGNC	p.S454S		ZNF280A		SNV							ENST00000302097	protein_coding			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF121,PROSITE_patterns:PS00028,SMART_domains:SM00355		S		A		1615/2148							YES	ZNF280A,synonymous_variant,p.=,ENST00000302097,NM_080740.3;snoU13,upstream_gene_variant,,ENST00000459485,;							LOW	1362/1629		Z280A_HUMAN			Transcript			.	ENSP00000302855		CCDS13800.1			1	
WDR62	0	LGGM	GRCh37	19	36562514	36562514	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	30	18	.	.	ENST00000401500.2:c.939A>G	p.Thr313=	p.T313=	ENST00000401500	NM_001083961.1	313	acA/acG	0	1		UPI0000DBEE90	0		ENST00000270301		ENSG00000075702	24502		48			HGNC	p.T313T		WDR62		SNV			1				ENST00000378860	protein_coding			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF362		T		G		939/4632								WDR62,synonymous_variant,p.=,ENST00000401500,NM_001083961.1,NM_173636.4;WDR62,synonymous_variant,p.=,ENST00000270301,;WDR62,synonymous_variant,p.=,ENST00000388999,;WDR62,downstream_gene_variant,,ENST00000427823,;WDR62,non_coding_transcript_exon_variant,,ENST00000378860,;WDR62,non_coding_transcript_exon_variant,,ENST00000589953,;WDR62,synonymous_variant,p.=,ENST00000587391,;							LOW	939/4557		WDR62_HUMAN			Transcript			.	ENSP00000270301		CCDS33001.1			1	
COL6A6	0	LGGM	GRCh37	3	130284428	130284428	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	57	19	.	.	ENST00000358511.6:c.1252T>G	p.Phe418Val	p.F418V	ENST00000358511	NM_001102608.1	418	Ttt/Gtt	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		76	0.69		HGNC	p.F418V		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130284428,T,G&fts=all		hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992		F/V		G	neutral	1283/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=378&re=465&var=F418V	tolerated(0.51)				YES	COL6A6,missense_variant,p.Phe418Val,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Phe418Val,ENST00000453409,;							MODERATE	1252/6792	F418V	CO6A6_HUMAN			Transcript		benign(0.002)	.	ENSP00000351310		CCDS46911.1			1	
COL6A6	0	LGGM	GRCh37	3	130284453	130284453	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072813	H072813N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	54	19	.	.	ENST00000358511.6:c.1277A>T	p.Lys426Ile	p.K426I	ENST00000358511	NM_001102608.1	426	aAa/aTa	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		73	1.895		HGNC	p.K426I		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130284453,A,T&fts=all		hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Superfamily_domains:SSF53300		K/I		T	low	1308/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=378&re=465&var=K426I	deleterious(0)				YES	COL6A6,missense_variant,p.Lys426Ile,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Lys426Ile,ENST00000453409,;							MODERATE	1277/6792	K426I	CO6A6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351310		CCDS46911.1			1	
MKX	0	LGGM	GRCh37	10	28024249	28024249	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	35	20	.	.	ENST00000375790.5:c.403C>A	p.Pro135Thr	p.P135T	ENST00000375790		135	Cca/Aca	0	1	1	UPI0000161911	0	getma.org/pdb.php?prot=MKX_HUMAN&from=128&to=143&var=P135T	ENST00000375790		ENSG00000150051	23729		55	2.14		HGNC	p.P135T		MKX		SNV							ENST00000419761	protein_coding	getma.org/?cm=var&var=hg19,10,28024249,G,T&fts=all		hmmpanther:PTHR11211:SF3,hmmpanther:PTHR11211,SMART_domains:SM00389,Superfamily_domains:SSF46689		P/T		T	medium	836/3846		getma.org/?cm=msa&ty=f&p=MKX_HUMAN&rb=98&re=173&var=P135T	deleterious(0)	H0YMU2_HUMAN			YES	MKX,missense_variant,p.Pro135Thr,ENST00000375790,;MKX,missense_variant,p.Pro135Thr,ENST00000419761,NM_001242702.1,NM_173576.2;MKX,missense_variant,p.Pro135Thr,ENST00000460919,;							MODERATE	403/1059	P135T	MKX_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364946		CCDS7156.1			1	
CX3CR1	0	LGGM	GRCh37	3	39307667	39307667	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	32	21	.	.	ENST00000358309.3:c.430G>A	p.Gly144Ser	p.G144S	ENST00000358309	NM_001171174.1	144	Ggc/Agc	0	1		UPI0000000A0B	0	getma.org/pdb.php?prot=CX3C1_HUMAN&from=48&to=293&var=G112S	ENST00000399220		ENSG00000168329	2558		53	1.31		HGNC	p.G112S	rs757198893	CX3CR1	6.06E-05	SNV			1				ENST00000541347	protein_coding	getma.org/?cm=var&var=hg19,3,39307667,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF9,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		G/S		T	low	424/3106		getma.org/?cm=msa&ty=f&p=CX3C1_HUMAN&rb=48&re=293&var=G112S	deleterious(0)	C9JN40_HUMAN,C9JLM2_HUMAN				CX3CR1,missense_variant,p.Gly112Ser,ENST00000541347,NM_001171171.1;CX3CR1,missense_variant,p.Gly112Ser,ENST00000542107,NM_001171172.1;CX3CR1,missense_variant,p.Gly144Ser,ENST00000358309,NM_001171174.1;CX3CR1,missense_variant,p.Gly112Ser,ENST00000399220,NM_001337.3;CX3CR1,missense_variant,p.Gly112Ser,ENST00000435290,;CX3CR1,downstream_gene_variant,,ENST00000412814,;							MODERATE	334/1068	G112S	CX3C1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382166	8.27E-06	CCDS43069.1			1	
PALM2-AKAP2	0	LGGM	GRCh37	9	112898474	112898474	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	31	23	.	.	ENST00000374530.3:c.650T>G	p.Leu217Arg	p.L217R	ENST00000374530	NM_007203.4	217	cTc/cGc	0	1	1	UPI0000125755	0	NA	ENST00000374530		ENSG00000157654	33529		54	0.205		HGNC	p.L217R		PALM2-AKAP2		SNV							ENST00000302798	protein_coding	getma.org/?cm=var&var=hg19,9,112898474,T,G&fts=all		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10		L/R		G	neutral	830/7507		getma.org/?cm=msa&ty=f&p=C9JVY5_HUMAN&rb=1&re=200&var=L35R	tolerated(0.25)				YES	PALM2-AKAP2,missense_variant,p.Leu217Arg,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Leu75Arg,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Leu217Arg,ENST00000302798,;AKAP2,missense_variant,p.Leu75Arg,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Leu217Arg,ENST00000555236,;AKAP2,missense_variant,p.Leu217Arg,ENST00000510514,;AKAP2,missense_variant,p.Leu35Arg,ENST00000480388,;AKAP2,5_prime_UTR_variant,,ENST00000259318,NM_001136562.2;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,non_coding_transcript_exon_variant,,ENST00000471798,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,intron_variant,,ENST00000495980,;							MODERATE	650/3312	L35R				Transcript		benign(0.006)	.	ENSP00000363654		CCDS35100.1			1	
TEX15	0	LGGM	GRCh37	8	30703782	30703782	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	41	23	.	.	ENST00000256246.2:c.2752A>G	p.Lys918Glu	p.K918E	ENST00000256246	NM_031271.3	918	Aaa/Gaa	0	1	1	UPI000013CEF9	0	NA	ENST00000256246		ENSG00000133863	11738		64	1.59		HGNC	p.K918E		TEX15		SNV							ENST00000256246	protein_coding	getma.org/?cm=var&var=hg19,8,30703782,T,C&fts=all		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1		K/E		C	low	2827/10187		getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=K918E	deleterious(0)	D3DSV6_HUMAN			YES	TEX15,missense_variant,p.Lys918Glu,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;							MODERATE	2752/8370	K918E	TEX15_HUMAN			Transcript		benign(0.058)	.	ENSP00000256246		CCDS6080.1			1	
IGLV8-61	0	LGGM	GRCh37	22	22453466	22453466	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	43	24	.	.	ENST00000390283.2:c.212G>C	p.Arg71Pro	p.R71P	ENST00000390283		71	cGc/cCc	0	1	1	UPI0001611016	0		ENST00000390283		ENSG00000211638	5931		67			HGNC	p.R71P		IGLV8-61		SNV							ENST00000390283	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23267:SF156,hmmpanther:PTHR23267,PROSITE_profiles:PS50835		R/P		C		258/414			deleterious(0.01)	Q5NV62_HUMAN			YES	IGLV8-61,missense_variant,p.Arg71Pro,ENST00000390283,;LL22NC03-88E1.17,upstream_gene_variant,,ENST00000444224,;							MODERATE	212/368					Transcript		possibly_damaging(0.856)	.	ENSP00000374818					1	
NDC80	0	LGGM	GRCh37	18	2595512	2595512	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	36	24	.	.	ENST00000261597.4:c.1113T>C	p.His371=	p.H371=	ENST00000261597	NM_006101.2	371	caT/caC	0	1	1	UPI0000073C92	0		ENST00000261597		ENSG00000080986	16909		60			HGNC	p.H371H		NDC80		SNV							ENST00000261597	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10643,hmmpanther:PTHR10643:SF2		H		C		1295/2172				A8K031_HUMAN			YES	NDC80,synonymous_variant,p.=,ENST00000261597,NM_006101.2;KATNBL1P3,upstream_gene_variant,,ENST00000443475,;							LOW	1113/1929		NDC80_HUMAN			Transcript			.	ENSP00000261597		CCDS11827.1			1	
F2R	0	LGGM	GRCh37	5	76028516	76028516	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	41	24	.	.	ENST00000319211.4:c.466C>T	p.Pro156Ser	p.P156S	ENST00000319211	NM_001992.3	156	Ccc/Tcc	0	1	1	UPI0000131312	0	getma.org/pdb.php?prot=PAR1_HUMAN&from=119&to=371&var=P156S	ENST00000319211		ENSG00000181104	3537		65	3.25		HGNC	p.P156S		F2R		SNV							ENST00000319211	protein_coding	getma.org/?cm=var&var=hg19,5,76028516,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF20,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/S		T	medium	731/3821		getma.org/?cm=msa&ty=f&p=PAR1_HUMAN&rb=119&re=371&var=P156S	deleterious(0)	Q71UT7_HUMAN,Q6LCF1_HUMAN			YES	F2R,missense_variant,p.Pro156Ser,ENST00000319211,NM_001992.3;							MODERATE	466/1278	P156S	PAR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321326		CCDS4032.1			1	
GUCY1A3	0	LGGM	GRCh37	4	156651287	156651287	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	29	25	.	.	ENST00000296518.7:c.1977T>C	p.Ala659=	p.A659=	ENST00000296518		659	gcT/gcC	0	1	1	UPI0000033343	0		ENST00000296518		ENSG00000164116	4685		54			HGNC	p.A659A		GUCY1A3		SNV			1				ENST00000455639	protein_coding			hmmpanther:PTHR11920:SF226,hmmpanther:PTHR11920		A		C		2186/4400				Q9NNW8_HUMAN,J3KPQ8_HUMAN			YES	GUCY1A3,synonymous_variant,p.=,ENST00000296518,;GUCY1A3,synonymous_variant,p.=,ENST00000393832,NM_001130685.2;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;RP11-588K22.2,upstream_gene_variant,,ENST00000569449,;GUCY1A3,3_prime_UTR_variant,,ENST00000443668,;GUCY1A3,3_prime_UTR_variant,,ENST00000515201,;GUCY1A3,3_prime_UTR_variant,,ENST00000509901,;							LOW	1977/2073		GCYA3_HUMAN			Transcript			.	ENSP00000296518		CCDS34085.1			1	
BTD	0	LGGM	GRCh37	3	15686746	15686746	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	38	25	.	.	ENST00000303498.5:c.1383C>G	p.Val461=	p.V461=	ENST00000303498	NM_000060.2	461	gtC/gtG	0	1	1	UPI000013E8A8	0		ENST00000303498		ENSG00000169814	1122		63			HGNC	p.V461V		BTD		SNV			1				ENST00000303498	protein_coding			hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,PIRSF_domain:PIRSF011861		V		G		1492/2075				F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN			YES	BTD,synonymous_variant,p.=,ENST00000383778,NM_001281725.1;BTD,synonymous_variant,p.=,ENST00000437172,NM_001281724.1;BTD,synonymous_variant,p.=,ENST00000303498,NM_000060.2;BTD,synonymous_variant,p.=,ENST00000449107,NM_001281723.1;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;							LOW	1383/1632		BTD_HUMAN			Transcript			.	ENSP00000306477		CCDS2628.1			1	
FAM118B	0	LGGM	GRCh37	11	126126718	126126718	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	65	27	.	.	ENST00000533050.1:c.953C>A	p.Thr318Lys	p.T318K	ENST00000533050	NM_024556.3	318	aCa/aAa	0	1	1	UPI000004A026	0	NA	ENST00000533050		ENSG00000197798	26110		92	0.345		HGNC	p.T318K		FAM118B		SNV							ENST00000528985	protein_coding	getma.org/?cm=var&var=hg19,11,126126718,C,A&fts=all				T/K		A	neutral	1446/2402		getma.org/?cm=msa&ty=f&p=F118B_HUMAN&rb=302&re=351&var=T318K	deleterious(0.02)	E9PMW3_HUMAN			YES	FAM118B,missense_variant,p.Thr318Lys,ENST00000533050,NM_024556.3;FAM118B,missense_variant,p.Thr318Lys,ENST00000360194,;FAM118B,missense_variant,p.Thr318Lys,ENST00000528985,;FAM118B,missense_variant,p.Thr242Lys,ENST00000529731,;FAM118B,downstream_gene_variant,,ENST00000525338,;FAM118B,downstream_gene_variant,,ENST00000525728,;FAM118B,upstream_gene_variant,,ENST00000531935,;							MODERATE	953/1056	T318K	F118B_HUMAN			Transcript		benign(0.11)	.	ENSP00000433343		CCDS8470.1			1	
TTN	0	LGGM	GRCh37	2	179466856	179466856	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	38	28	.	.	ENST00000589042.1:c.55142A>G	p.Asp18381Gly	p.D18381G	ENST00000589042	NM_001267550.1	18381	gAc/gGc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=16727&to=16834&var=D16740G	ENST00000591111		ENSG00000155657	12403		66	2.985		HGNC	p.D9441G		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179466856,T,C&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		D/G		C	medium	50444/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=16727&re=16834&var=D16740G		C9JQJ2_HUMAN				TTN,missense_variant,p.Asp18381Gly,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Asp16740Gly,ENST00000591111,;TTN,missense_variant,p.Asp15813Gly,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Asp9508Gly,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Asp9441Gly,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Asp9316Gly,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,;							MODERATE	50219/103053	D16740G	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
USPL1	0	LGGM	GRCh37	13	31231972	31231972	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	36	29	.	.	ENST00000255304.4:c.1758G>T	p.Leu586=	p.L586=	ENST00000255304	NM_005800.4	586	ctG/ctT	0	1	1	UPI000013CEA3	0		ENST00000255304		ENSG00000132952	20294		65			HGNC	p.L586L		USPL1		SNV							ENST00000255304	protein_coding			hmmpanther:PTHR15294,Pfam_domain:PF15509		L		T		2100/3814							YES	USPL1,synonymous_variant,p.=,ENST00000255304,NM_005800.4;							LOW	1758/3279		USPL1_HUMAN			Transcript			.	ENSP00000255304		CCDS9336.1			1	
PLD1	0	LGGM	GRCh37	3	171395456	171395456	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	27	32	.	.	ENST00000351298.4:c.1896A>C	p.Thr632=	p.T632=	ENST00000351298	NM_002662.4	632	acA/acC	0	1	1	UPI0000131BDC	0		ENST00000351298		ENSG00000075651	9067		59			HGNC	p.Q523P		PLD1		SNV							ENST00000342215	protein_coding			hmmpanther:PTHR18896:SF57,hmmpanther:PTHR18896,PIRSF_domain:PIRSF009376		T		G		2023/5604				C9IY79_HUMAN			YES	PLD1,missense_variant,p.Gln523Pro,ENST00000342215,;PLD1,synonymous_variant,p.=,ENST00000356327,NM_001130081.2;PLD1,synonymous_variant,p.=,ENST00000351298,NM_002662.4;PLD1,synonymous_variant,p.=,ENST00000340989,;PLD1,upstream_gene_variant,,ENST00000446289,;PLD1,non_coding_transcript_exon_variant,,ENST00000471075,;							LOW	1896/3225		PLD1_HUMAN			Transcript			.	ENSP00000342793		CCDS3216.1			1	
C2orf66	0	LGGM	GRCh37	2	197673966	197673966	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	56	34	.	.	ENST00000342506.2:c.146C>T	p.Pro49Leu	p.P49L	ENST00000342506	NM_213608.2	49	cCa/cTa	0	1	1	UPI00001602CE	0	NA	ENST00000342506		ENSG00000187944	33809		90	0.55		HGNC	p.P49L		C2orf66		SNV							ENST00000342506	protein_coding	getma.org/?cm=var&var=hg19,2,197673966,G,A&fts=all		hmmpanther:PTHR15495,hmmpanther:PTHR15495:SF14		P/L		A	neutral	1035/1669		getma.org/?cm=msa&ty=f&p=CB066_HUMAN&rb=41&re=116&var=P49L	deleterious(0)				YES	C2orf66,missense_variant,p.Pro49Leu,ENST00000342506,NM_213608.2;							MODERATE	146/354	P49L	CB066_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000339384		CCDS2317.1			1	
MYH8	0	LGGM	GRCh37	17	10301842	10301842	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	61	36	.	.	ENST00000403437.2:c.4097A>C	p.Lys1366Thr	p.K1366T	ENST00000403437	NM_002472.2	1366	aAg/aCg	0	1	1	UPI000012FB7D	0	NA	ENST00000403437		ENSG00000133020	7578		97	2.855		HGNC	p.K1366T		MYH8		SNV			1				ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10301842,T,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340		K/T		G	medium	4192/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=K1366T	deleterious(0.01)				YES	MYH8,missense_variant,p.Lys1366Thr,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	4097/5814	K1366T	MYH8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384330		CCDS11153.1			1	
MYH8	0	LGGM	GRCh37	17	10301869	10301869	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	64	37	.	.	ENST00000403437.2:c.4070A>C	p.Lys1357Thr	p.K1357T	ENST00000403437	NM_002472.2	1357	aAa/aCa	0	1	1	UPI000012FB7D	0	NA	ENST00000403437		ENSG00000133020	7578		101	3.58		HGNC	p.K1357T		MYH8		SNV			1				ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10301869,T,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Low_complexity_(Seg):seg		K/T		G	high	4165/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=1071&re=1929&var=K1357T	deleterious(0)				YES	MYH8,missense_variant,p.Lys1357Thr,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	4070/5814	K1357T	MYH8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384330		CCDS11153.1			1	
OR2A25	0	LGGM	GRCh37	7	143771352	143771352	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	69	38	.	.	ENST00000408898.2:c.40C>T	p.Leu14=	p.L14=	ENST00000408898	NM_001004488.1	14	Ctg/Ttg	0	1	1	UPI00002373C5	0		ENST00000408898		ENSG00000221933	19562		107			HGNC	p.L14L	rs748404426	OR2A25		SNV							ENST00000408898	protein_coding			hmmpanther:PTHR26451:SF146,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L		T		78/1014							YES	OR2A25,synonymous_variant,p.=,ENST00000408898,NM_001004488.1;OR2A41P,upstream_gene_variant,,ENST00000473586,;							LOW	40/933		O2A25_HUMAN			Transcript			.	ENSP00000386167	8.24E-06	CCDS43669.1	0.00111		1	
RICTOR	0	LGGM	GRCh37	5	38950315	38950315	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	56	38	.	.	ENST00000357387.3:c.3635A>G	p.His1212Arg	p.H1212R	ENST00000357387	NM_152756.3	1212	cAt/cGt	0	1	1	UPI00003529F3	0	NA	ENST00000357387		ENSG00000164327	28611		94	1.355		HGNC	p.H1212R		RICTOR		SNV							ENST00000357387	protein_coding	getma.org/?cm=var&var=hg19,5,38950315,T,C&fts=all		hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298		H/R		C	low	3666/9543		getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=H1212R	tolerated(0.46)				YES	RICTOR,missense_variant,p.His1212Arg,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.His1212Arg,ENST00000296782,NM_001285439.1;RICTOR,downstream_gene_variant,,ENST00000503698,;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;OSMR,downstream_gene_variant,,ENST00000509237,;							MODERATE	3635/5127	H1212R	RICTR_HUMAN			Transcript		benign(0.055)	.	ENSP00000349959		CCDS34148.1			1	
DST	0	LGGM	GRCh37	6	56417561	56417561	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	65	39	.	.	ENST00000244364.6:c.8160C>G	p.Ala2720=	p.A2720=	ENST00000244364	NM_015548.4	2720	gcC/gcG	0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		104			HGNC	p.A2720A		DST		SNV			1				ENST00000244364	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Superfamily_domains:SSF46966		A		C		8368/16742				Q86T18_HUMAN			YES	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,downstream_gene_variant,,ENST00000520144,;							LOW	8160/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
KAT2B	0	LGGM	GRCh37	3	20187889	20187889	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	56	40	.	.	ENST00000263754.4:c.2086C>T	p.Arg696Ter	p.R696*	ENST00000263754	NM_003884.4	696	Cga/Tga	0	1	1	UPI00002132DE	0	NA	ENST00000263754		ENSG00000114166	8638		96	0		HGNC	p.R696X	rs776636904	KAT2B		SNV							ENST00000263754	protein_coding	getma.org/?cm=var&var=hg19,3,20187889,C,T&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,PIRSF_domain:PIRSF003048		R/*		T	NA	2541/4833	1.50E-05	NA					YES	KAT2B,stop_gained,p.Arg696Ter,ENST00000263754,NM_003884.4;KAT2B,non_coding_transcript_exon_variant,,ENST00000468111,;KAT2B,upstream_gene_variant,,ENST00000468400,;							HIGH	2086/2499	R696*	KAT2B_HUMAN			Transcript			.	ENSP00000263754	8.24E-06	CCDS2634.1			1	
AQP4	0	LGGM	GRCh37	18	24440812	24440812	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	43	42	.	.	ENST00000383168.4:c.617A>G	p.Asn206Ser	p.N206S	ENST00000383168	NM_001650.4	206	aAt/aGt	0	1	1	UPI0000125D1F	0	getma.org/pdb.php?prot=AQP4_HUMAN&from=29&to=248&var=N206S	ENST00000383168		ENSG00000171885	637		85	0.88		HGNC	p.N206S	rs760164324	AQP4		SNV							ENST00000383168	protein_coding	getma.org/?cm=var&var=hg19,18,24440812,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF34,Gene3D:1.20.1080.10,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Superfamily_domains:SSF81338,Prints_domain:PR00783		N/S		C	low	746/5274	1.50E-05	getma.org/?cm=msa&ty=f&p=AQP4_HUMAN&rb=29&re=248&var=N206S	tolerated(0.47)	F1DSG4_HUMAN,B4DHF5_HUMAN			YES	AQP4,missense_variant,p.Asn206Ser,ENST00000383168,NM_001650.4,NM_004028.3;AQP4,missense_variant,p.Asn184Ser,ENST00000581374,;AQP4,missense_variant,p.Asn184Ser,ENST00000440832,;AQP4,missense_variant,p.Asn165Ser,ENST00000578776,;AQP4-AS1,intron_variant,,ENST00000582605,;AQP4-AS1,intron_variant,,ENST00000579964,;AQP4-AS1,upstream_gene_variant,,ENST00000568797,;AQP4-AS1,upstream_gene_variant,,ENST00000578701,;AQP4,non_coding_transcript_exon_variant,,ENST00000583022,;AQP4,non_coding_transcript_exon_variant,,ENST00000584088,;AQP4,downstream_gene_variant,,ENST00000383170,;							MODERATE	617/972	N206S	AQP4_HUMAN			Transcript		benign(0.018)	.	ENSP00000372654	8.24E-06	CCDS11889.1			1	
MYLK	0	LGGM	GRCh37	3	123383036	123383036	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072813	H072813N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	90	45	.	.	ENST00000360304.3:c.3901C>T	p.Arg1301Cys	p.R1301C	ENST00000360304	NM_053025.3	1301	Cgc/Tgc	0	1	1	UPI000020A0AE	0	getma.org/pdb.php?prot=MYLK_HUMAN&from=1238&to=1327&var=R1301C	ENST00000360304		ENSG00000065534	7590	8.64E-05	135	1.1		HGNC	p.R1301C	rs368321325,COSM1158397	MYLK	6.06E-05	SNV	A:0.0002		1	0.000193		0,1	ENST00000360304	protein_coding	getma.org/?cm=var&var=hg19,3,123383036,G,A&fts=all		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		R/C	A:0	A	low	4183/7834	3.00E-05	getma.org/?cm=msa&ty=f&p=MYLK_HUMAN&rb=1238&re=1327&var=R1301C	tolerated(0.08)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN			YES	MYLK,missense_variant,p.Arg1301Cys,ENST00000360772,;MYLK,missense_variant,p.Arg1301Cys,ENST00000360304,NM_053025.3;MYLK,missense_variant,p.Arg1301Cys,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,missense_variant,p.Arg1232Cys,ENST00000346322,NM_053026.3;MYLK,missense_variant,p.Arg1301Cys,ENST00000475616,;MYLK,missense_variant,p.Arg101Cys,ENST00000354792,;MYLK,missense_variant,p.Arg101Cys,ENST00000508240,;MYLK,downstream_gene_variant,,ENST00000510775,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000511058,;					0,1		MODERATE	3901/5745	R1301C	MYLK_HUMAN			Transcript		benign(0.005)	.	ENSP00000353452	4.94E-05	CCDS46896.1			1	
PCLO	0	LGGM	GRCh37	7	82581581	82581581	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072813	H072813N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	73	50	.	.	ENST00000333891.9:c.8688A>G	p.Glu2896=	p.E2896=	ENST00000333891	NM_033026.5	2896	gaA/gaG	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		123			HGNC	p.E2896E		PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		E		C		9026/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							LOW	8688/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
FLG2	0	LGGM	GRCh37	1	152323837	152323837	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072813	H072813N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072813N.bam, H072813T.bam	Illumina HiSeq	235	84	.	.	ENST00000388718.5:c.6425G>A	p.Gly2142Glu	p.G2142E	ENST00000388718	NM_001014342.2	2142	gGg/gAg	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		319	1.505		HGNC	p.G2142E	rs370034401	FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152323837,C,T&fts=all	T:0			G/E		T	low	6498/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1971&re=2390&var=G2142E			T:0	T:0.002	YES	FLG2,missense_variant,p.Gly2142Glu,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;	0.000809	T:0.0004					MODERATE	6425/7176	G2142E	FILA2_HUMAN		T:0	Transcript		benign(0.097)	common_variant	ENSP00000373370	5.77E-05	CCDS30861.1		T:0	1	
FGD1	0	LGGM	GRCh37	X	54497846	54497846	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	7	2	.	.	ENST00000375135.3:c.382G>T	p.Glu128Ter	p.E128*	ENST00000375135	NM_004463.2	128	Gaa/Taa	0	1	1	UPI000012A705	0	NA	ENST00000375135		ENSG00000102302	3663		9	0		HGNC	p.E128X		FGD1		SNV			1				ENST00000375135	protein_coding	getma.org/?cm=var&var=hg19,X,54497846,C,A&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79		E/*		A	NA	1116/4275		NA					YES	FGD1,stop_gained,p.Glu128Ter,ENST00000375135,NM_004463.2;							HIGH	382/2886	E128*	FGD1_HUMAN			Transcript			.	ENSP00000364277		CCDS14359.1			1	
DEFB105A	0	LGGM	GRCh37	8	7680931	7680931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	4	2	.	.	ENST00000334773.6:c.85C>T	p.Leu29Phe	p.L29F	ENST00000334773	NM_152250.1	29	Ctt/Ttt	0	1	1	UPI0000070CCF	0		ENST00000334773		ENSG00000186562	18087		6			HGNC	p.L29F	rs540839506	DEFB105A		SNV							ENST00000334773	protein_coding		A:0	Transmembrane_helices:TMhelix,hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF10		L/F		A		136/330			deleterious(0.05)		A:0	A:0.002	YES	DEFB105A,missense_variant,p.Leu29Phe,ENST00000334773,NM_152250.1;DEFB106A,upstream_gene_variant,,ENST00000335186,NM_152251.3;	0.00161	A:0.0004					MODERATE	85/237		D105A_HUMAN		A:0	Transcript		probably_damaging(0.969)	common_variant	ENSP00000334330	0.000107	CCDS34832.1		A:0	1	
MAST2	0	LGGM	GRCh37	1	46494445	46494445	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	35	3	.	.	ENST00000361297.2:c.2058C>T	p.Cys686=	p.C686=	ENST00000361297	NM_015112.2	686	tgC/tgT	0	1	1	UPI0000458AEB	0		ENST00000361297		ENSG00000086015	19035		38			HGNC	p.C686C	rs372751187,COSM910242,COSM3930798	MAST2		SNV	T:0					0,1,1	ENST00000361297	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		C	T:0.0001	T		2341/5738	4.50E-05			Q9NT11_HUMAN			YES	MAST2,synonymous_variant,p.=,ENST00000361297,NM_015112.2;MAST2,synonymous_variant,p.=,ENST00000372009,;MAST2,synonymous_variant,p.=,ENST00000372008,;MAST2,upstream_gene_variant,,ENST00000477968,;MAST2,downstream_gene_variant,,ENST00000467367,;	0.000232				0,1,1		LOW	2058/5397		MAST2_HUMAN			Transcript			.	ENSP00000354671	4.13E-05	CCDS41326.1			1	
IFITM3	0	LGGM	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	62	4	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0	1	1	UPI00000465C0	0	NA	ENST00000399808		ENSG00000142089	5414	0.0386	66	0.895		HGNC	p.P70T	rs199749095,COSM42691	IFITM3	0.0776	SNV			1	0.0604		0,1	ENST00000399808	protein_coding	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix		P/T		T	low	445/808	0.0502	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	tolerated(0.45)	E9PS44_HUMAN			YES	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,;	0.0105				0,1		MODERATE	208/402	P70T	IFM3_HUMAN	0.0265		Transcript		benign(0.001)	common_variant	ENSP00000382707	0.0511	CCDS41585.1	0.0547		1	23658454
XIRP2	0	LGGM	GRCh37	2	168104251	168104251	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	44	3	.	.	ENST00000409195.1:c.6349G>T	p.Ala2117Ser	p.A2117S	ENST00000409195	NM_152381.5	2117	Gct/Tct	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		47	0.345		HGNC	p.A1895S		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168104251,G,T&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		A/S		T	neutral	6438/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=A1942S		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Ala2117Ser,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ala2117Ser,ENST00000295237,;XIRP2,missense_variant,p.Ala1895Ser,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;							MODERATE	6349/10650	A1942S				Transcript		benign(0.003)	.	ENSP00000386840		CCDS42769.1			1	
RPL35	0	LGGM	GRCh37	9	127620308	127620308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	36	3	.	.	ENST00000348462.3:c.261G>T	p.Lys87Asn	p.K87N	ENST00000348462	NM_007209.3	87	aaG/aaT	0	1	1	UPI000015A4DD	0	getma.org/pdb.php?prot=RL35_HUMAN&from=65&to=123&var=K87N	ENST00000348462		ENSG00000136942	10344		39	3.355		HGNC	p.K87N		RPL35		SNV							ENST00000348462	protein_coding	getma.org/?cm=var&var=hg19,9,127620308,C,A&fts=all		hmmpanther:PTHR13872		K/N		A	medium	310/455		getma.org/?cm=msa&ty=f&p=RL35_HUMAN&rb=65&re=123&var=K87N	deleterious(0.01)				YES	RPL35,missense_variant,p.Lys87Asn,ENST00000348462,NM_007209.3;RPL35,3_prime_UTR_variant,,ENST00000373570,;ARPC5L,upstream_gene_variant,,ENST00000353214,;WDR38,downstream_gene_variant,,ENST00000373574,NM_001045476.2,NM_001276375.1,NM_001276374.1;RPL35,3_prime_UTR_variant,,ENST00000493018,;RPL35,non_coding_transcript_exon_variant,,ENST00000487431,;RPL35,downstream_gene_variant,,ENST00000495728,;							MODERATE	261/372	K87N	RL35_HUMAN			Transcript		benign(0.384)	.	ENSP00000259469		CCDS6858.1			1	
HAGHL	0	LGGM	GRCh37	16	778832	778832	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	9	3	.	.	ENST00000389703.3:c.537G>A	p.Leu179=	p.L179=	ENST00000389703	NM_032304.2	179	ctG/ctA	0	1		UPI00003507CF	0		ENST00000341413		ENSG00000103253	14177		12			HGNC	p.L179L		HAGHL		SNV							ENST00000562141	protein_coding			hmmpanther:PTHR11935:SF77,hmmpanther:PTHR11935,Gene3D:3.60.15.10,Superfamily_domains:SSF56281		L		A		818/1701				H3BT20_HUMAN				HAGHL,synonymous_variant,p.=,ENST00000341413,;HAGHL,synonymous_variant,p.=,ENST00000389703,NM_032304.2;HAGHL,synonymous_variant,p.=,ENST00000561546,;HAGHL,synonymous_variant,p.=,ENST00000562141,;HAGHL,3_prime_UTR_variant,,ENST00000549114,;HAGHL,3_prime_UTR_variant,,ENST00000564537,;HAGHL,3_prime_UTR_variant,,ENST00000564545,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,NM_022493.1;CCDC78,upstream_gene_variant,,ENST00000293889,NM_001031737.2;CCDC78,upstream_gene_variant,,ENST00000345165,;NARFL,downstream_gene_variant,,ENST00000301694,;NARFL,downstream_gene_variant,,ENST00000562421,;HAGHL,downstream_gene_variant,,ENST00000568141,;HAGHL,downstream_gene_variant,,ENST00000567414,;CCDC78,upstream_gene_variant,,ENST00000423653,;HAGHL,downstream_gene_variant,,ENST00000563792,;HAGHL,downstream_gene_variant,,ENST00000562187,;HAGHL,non_coding_transcript_exon_variant,,ENST00000563156,;HAGHL,upstream_gene_variant,,ENST00000569604,;NARFL,downstream_gene_variant,,ENST00000562862,;HAGHL,3_prime_UTR_variant,,ENST00000569385,;HAGHL,3_prime_UTR_variant,,ENST00000561561,;HAGHL,non_coding_transcript_exon_variant,,ENST00000567696,;HAGHL,non_coding_transcript_exon_variant,,ENST00000389701,;CCDC78,upstream_gene_variant,,ENST00000482878,;CCDC78,upstream_gene_variant,,ENST00000481804,;CCDC78,upstream_gene_variant,,ENST00000478979,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000566650,;NARFL,downstream_gene_variant,,ENST00000565425,;CCDC78,upstream_gene_variant,,ENST00000466708,;CCDC78,upstream_gene_variant,,ENST00000463539,;CCDC78,upstream_gene_variant,,ENST00000485091,;NARFL,downstream_gene_variant,,ENST00000565341,;NARFL,downstream_gene_variant,,ENST00000564285,;CCDC78,upstream_gene_variant,,ENST00000538176,;CCDC78,upstream_gene_variant,,ENST00000439619,;CCDC78,upstream_gene_variant,,ENST00000482152,;CCDC78,upstream_gene_variant,,ENST00000460023,;CCDC78,upstream_gene_variant,,ENST00000471861,;HAGHL,downstream_gene_variant,,ENST00000561750,;HAGHL,downstream_gene_variant,,ENST00000569143,;CCDC78,upstream_gene_variant,,ENST00000544996,;CCDC78,upstream_gene_variant,,ENST00000474647,;							LOW	537/873		HAGHL_HUMAN			Transcript			.	ENSP00000341952					1	
SDS	0	LGGM	GRCh37	12	113831803	113831803	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	38	3	.	.	ENST00000257549.4:c.672C>T	p.Gly224=	p.G224=	ENST00000257549	NM_006843.2	224	ggC/ggT	0	1	1	UPI000013CF6B	0		ENST00000257549		ENSG00000135094	10691		41			HGNC	p.G224G	rs780619588	SDS		SNV							ENST00000257549	protein_coding			hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF73,Pfam_domain:PF00291,Gene3D:3.40.50.1100,Superfamily_domains:SSF53686		G		A		795/1606							YES	SDS,synonymous_variant,p.=,ENST00000257549,NM_006843.2;PLBD2,downstream_gene_variant,,ENST00000280800,NM_173542.3;PLBD2,downstream_gene_variant,,ENST00000545182,NM_001159727.1;SDS,downstream_gene_variant,,ENST00000547342,;SDS,downstream_gene_variant,,ENST00000552280,;SDS,downstream_gene_variant,,ENST00000553112,;SDS,downstream_gene_variant,,ENST00000546639,;							LOW	672/987		SDHL_HUMAN			Transcript			.	ENSP00000257549		CCDS9169.1			1	
OGT	0	LGGM	GRCh37	X	70775125	70775125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	15	3	.	.	ENST00000373719.3:c.814C>A	p.Gln272Lys	p.Q272K	ENST00000373719	NM_181673.2	272	Caa/Aaa	0	1	1	UPI0000073C9F	0	getma.org/pdb.php?prot=OGT1_HUMAN&from=259&to=292&var=Q272K	ENST00000373719		ENSG00000147162	8127		18	1.72		HGNC	p.Q262K		OGT		SNV							ENST00000373701	protein_coding	getma.org/?cm=var&var=hg19,X,70775125,C,A&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF369,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		Q/K		A	low	1031/5461		getma.org/?cm=msa&ty=f&p=OGT1_HUMAN&rb=259&re=292&var=Q272K	tolerated(0.07)	C9JZL3_HUMAN			YES	OGT,missense_variant,p.Gln272Lys,ENST00000373719,NM_181673.2,NM_181672.2;OGT,missense_variant,p.Gln262Lys,ENST00000373701,;OGT,downstream_gene_variant,,ENST00000455587,;OGT,non_coding_transcript_exon_variant,,ENST00000459760,;OGT,intron_variant,,ENST00000488174,;OGT,upstream_gene_variant,,ENST00000466181,;OGT,upstream_gene_variant,,ENST00000462638,;							MODERATE	814/3141	Q272K	OGT1_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000362824		CCDS14414.1			1	
RBP3	0	LGGM	GRCh37	10	48390342	48390342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	37	3	.	.	ENST00000224600.4:c.536G>A	p.Gly179Asp	p.G179D	ENST00000224600	NM_002900.2	179	gGc/gAc	0	1	1	UPI000012D87A	0	getma.org/pdb.php?prot=RET3_HUMAN&from=129&to=307&var=G179D	ENST00000224600		ENSG00000107618	9921		40	3.545		HGNC	p.G179D		RBP3		SNV			1				ENST00000224600	protein_coding	getma.org/?cm=var&var=hg19,10,48390342,C,T&fts=all		hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096		G/D		T	high	650/4276		getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=129&re=307&var=G179D	deleterious(0)				YES	RBP3,missense_variant,p.Gly179Asp,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;							MODERATE	536/3744	G179D	RET3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000224600		CCDS7218.1			1	
SLC41A3	0	LGGM	GRCh37	3	125725276	125725277	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GG	novel	by Submitter	H072820	H072820N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	4	3	.	.	ENST00000315891.6:c.1497_1498insCC	p.Cys500ProfsTer4	p.C500Pfs*4	ENST00000315891	NM_017836.3	499	-/CC	0	1	1	UPI000013D523	0		ENST00000315891		ENSG00000114544	31046		7			HGNC	p.C464fs		SLC41A3		insertion							ENST00000346785	protein_coding					-/X		GG		1736-1737/1797				D6RF72_HUMAN,D6R9S7_HUMAN,D6R925_HUMAN			YES	SLC41A3,frameshift_variant,p.Cys500ProfsTer4,ENST00000315891,NM_017836.3,NM_001008485.1;SLC41A3,frameshift_variant,p.Cys464ProfsTer4,ENST00000346785,NM_001008486.1;SLC41A3,3_prime_UTR_variant,,ENST00000383598,NM_001008487.1;SLC41A3,3_prime_UTR_variant,,ENST00000360370,;SLC41A3,downstream_gene_variant,,ENST00000508835,NM_001164475.1;SLC41A3,non_coding_transcript_exon_variant,,ENST00000504118,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000512557,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000506102,;							HIGH	1497-1498/1524		S41A3_HUMAN			Transcript			.	ENSP00000326070		CCDS33843.1			1	
SPTBN4	0	LGGM	GRCh37	19	41078275	41078275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	44	3	.	.	ENST00000352632.3:c.7525G>A	p.Ala2509Thr	p.A2509T	ENST00000352632		2509	Gca/Aca	0	1	1	UPI0000135DBB	0	getma.org/pdb.php?prot=SPTN4_HUMAN&from=2419&to=2527&var=A2509T	ENST00000352632		ENSG00000160460	14896		47	1.555		HGNC	p.A2509T		SPTBN4		SNV							ENST00000352632	protein_coding	getma.org/?cm=var&var=hg19,19,41078275,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Pfam_domain:PF15410,Gene3D:2.30.29.30,PIRSF_domain:PIRSF002297,SMART_domains:SM00233,Superfamily_domains:SSF50729,Prints_domain:PR00683		A/T		A	low	7611/8676		getma.org/?cm=msa&ty=f&p=SPTN4_HUMAN&rb=2419&re=2527&var=A2509T	deleterious(0.03)				YES	SPTBN4,missense_variant,p.Ala2509Thr,ENST00000352632,;SPTBN4,missense_variant,p.Ala2509Thr,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Ala1252Thr,ENST00000392025,;SHKBP1,upstream_gene_variant,,ENST00000291842,NM_138392.3;SHKBP1,upstream_gene_variant,,ENST00000600733,;SHKBP1,upstream_gene_variant,,ENST00000600718,;SHKBP1,upstream_gene_variant,,ENST00000595631,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000593816,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000599926,;SHKBP1,upstream_gene_variant,,ENST00000600552,;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000596411,;SPTBN4,non_coding_transcript_exon_variant,,ENST00000595690,;SHKBP1,upstream_gene_variant,,ENST00000594973,;SHKBP1,upstream_gene_variant,,ENST00000595945,;SHKBP1,upstream_gene_variant,,ENST00000599575,;SHKBP1,upstream_gene_variant,,ENST00000595803,;SHKBP1,upstream_gene_variant,,ENST00000598558,;SHKBP1,upstream_gene_variant,,ENST00000595523,;SHKBP1,upstream_gene_variant,,ENST00000599716,;SHKBP1,upstream_gene_variant,,ENST00000597325,;							MODERATE	7525/7695	A2509T	SPTN4_HUMAN			Transcript		possibly_damaging(0.787)	.	ENSP00000263373		CCDS12559.1			1	
PATL1	0	LGGM	GRCh37	11	59425134	59425134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	41	3	.	.	ENST00000300146.9:c.490G>T	p.Asp164Tyr	p.D164Y	ENST00000300146	NM_152716.2	164	Gat/Tat	0	1	1	UPI00001FA7D8	0	NA	ENST00000300146		ENSG00000166889	26721		44	0.695		HGNC	p.D164Y		PATL1		SNV							ENST00000300146	protein_coding	getma.org/?cm=var&var=hg19,11,59425134,C,A&fts=all		hmmpanther:PTHR21551,hmmpanther:PTHR21551:SF2,Pfam_domain:PF09770		D/Y		A	neutral	575/4072		getma.org/?cm=msa&ty=f&p=PATL1_HUMAN&rb=5&re=458&var=D164Y	deleterious(0.01)	B3KXN0_HUMAN			YES	PATL1,missense_variant,p.Asp164Tyr,ENST00000300146,NM_152716.2;							MODERATE	490/2313	D164Y	PATL1_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000300146		CCDS44613.1			1	
HIST1H4J	0	LGGM	GRCh37	6	27791916	27791916	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	31	3	.	.	ENST00000355057.1:c.14G>A	p.Gly5Asp	p.G5D	ENST00000355057	NM_021968.3	5	gGc/gAc	0	1	1	UPI000000003C	0		ENST00000355057		ENSG00000197238	4785		34			HGNC	p.G5D		HIST1H4J		SNV							ENST00000355057	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00623		G/D		A		33/374			deleterious_low_confidence(0.04)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4J,missense_variant,p.Gly5Asp,ENST00000355057,NM_021968.3;							MODERATE	14/312		H4_HUMAN			Transcript		unknown(0)	.	ENSP00000347168		CCDS4630.1			1	
RWDD1	0	LGGM	GRCh37	6	116905973	116905973	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	30	3	.	.	ENST00000466444.2:c.223C>A	p.Leu75Ile	p.L75I	ENST00000466444	NM_015952.2	75	Cta/Ata	0	1	1	UPI000006CF1D	0	getma.org/pdb.php?prot=RWDD1_HUMAN&from=3&to=111&var=L75I	ENST00000466444		ENSG00000111832	20993		33	1.455		HGNC	p.L75I		RWDD1		SNV							ENST00000466444	protein_coding	getma.org/?cm=var&var=hg19,6,116905973,C,A&fts=all		Gene3D:3.10.110.10,Pfam_domain:PF05773,PROSITE_profiles:PS50908,hmmpanther:PTHR12292,SMART_domains:SM00591,Superfamily_domains:SSF54495		L/I		A	low	439/5522		getma.org/?cm=msa&ty=f&p=RWDD1_HUMAN&rb=3&re=111&var=L75I	deleterious(0.04)	E5RJE3_HUMAN,E5RGS5_HUMAN,E5RGQ3_HUMAN			YES	RWDD1,missense_variant,p.Leu75Ile,ENST00000466444,NM_015952.2;RWDD1,5_prime_UTR_variant,,ENST00000487832,NM_001007464.1;RWDD1,5_prime_UTR_variant,,ENST00000392526,NM_016104.2;RWDD1,5_prime_UTR_variant,,ENST00000368590,;RWDD1,5_prime_UTR_variant,,ENST00000518117,;RWDD1,5_prime_UTR_variant,,ENST00000468204,;RWDD1,non_coding_transcript_exon_variant,,ENST00000517800,;							MODERATE	223/732	L75I	RWDD1_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000420357		CCDS34520.1			1	
SYTL2	0	LGGM	GRCh37	11	85409072	85409072	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	44	3	.	.	ENST00000354566.3:c.3417C>A	p.Cys1139Ter	p.C1139*	ENST00000354566	NM_206927.2	1139	tgC/tgA	0	1		UPI0001AADE5A	0	NA	ENST00000528231		ENSG00000137501	15585		47	0		HGNC	p.C777X		SYTL2		SNV							ENST00000524452	protein_coding	getma.org/?cm=var&var=hg19,11,85409072,G,T&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024,PROSITE_profiles:PS50004		C/*		T	NA	2681/3536		NA		Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,stop_gained,p.Cys1647Ter,ENST00000359152,NM_206928.2;SYTL2,stop_gained,p.Cys1123Ter,ENST00000525423,;SYTL2,stop_gained,p.Cys1139Ter,ENST00000354566,NM_206927.2;SYTL2,stop_gained,p.Cys802Ter,ENST00000316356,;SYTL2,stop_gained,p.Cys777Ter,ENST00000389960,NM_032943.3;SYTL2,stop_gained,p.Cys801Ter,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,stop_gained,p.Cys769Ter,ENST00000527523,;SYTL2,stop_gained,p.Cys777Ter,ENST00000524452,;SYTL2,stop_gained,p.Cys243Ter,ENST00000525702,NM_032379.3;SYTL2,stop_gained,p.Cys518Ter,ENST00000530351,;SYTL2,stop_gained,p.Cys232Ter,ENST00000389958,NM_206930.2;SYTL2,stop_gained,p.Cys243Ter,ENST00000529581,NM_206929.2;SYTL2,stop_gained,p.Cys203Ter,ENST00000533892,NM_001162952.1;SYTL2,3_prime_UTR_variant,,ENST00000389959,;SYTL2,3_prime_UTR_variant,,ENST00000532995,;SYTL2,non_coding_transcript_exon_variant,,ENST00000531496,;SYTL2,non_coding_transcript_exon_variant,,ENST00000529662,;SYTL2,upstream_gene_variant,,ENST00000525692,;							HIGH	2403/2805	C801*	SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
ADH1C	0	LGGM	GRCh37	4	100260873	100260873	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	64	4	.	.	ENST00000515683.1:c.965-1G>A		p.X322_splice	ENST00000515683	NM_000669.3			0	1	1		0		ENST00000515683		ENSG00000248144	251		68			HGNC	-		ADH1C		SNV							ENST00000515683	polymorphic_pseudogene							T		-/1740							YES	ADH1C,downstream_gene_variant,,ENST00000510055,;ADH1C,downstream_gene_variant,,ENST00000511397,;ADH1C,splice_acceptor_variant,,ENST00000515683,NM_000669.3;							HIGH	965/1128					Transcript			.	ENSP00000426083					1	
DRC1	0	LGGM	GRCh37	2	26679368	26679368	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	27	4	.	.	ENST00000288710.2:c.2206C>T	p.Arg736Trp	p.R736W	ENST00000288710	NM_145038.2	736	Cgg/Tgg	0	1	1	UPI000013DF36	0	NA	ENST00000288710		ENSG00000157856	24245		31	1.95		HGNC	p.R736W	rs373441736	DRC1		SNV	T:0.0002		1	0.000384			ENST00000288710	protein_coding	getma.org/?cm=var&var=hg19,2,26679368,C,T&fts=all		hmmpanther:PTHR21625,hmmpanther:PTHR21625:SF1		R/W	T:0	T	medium	2280/2491		getma.org/?cm=msa&ty=f&p=CC164_HUMAN&rb=303&re=738&var=R736W	deleterious(0.02)				YES	DRC1,missense_variant,p.Arg736Trp,ENST00000288710,NM_145038.2;OTOF,downstream_gene_variant,,ENST00000272371,NM_194248.2;OTOF,downstream_gene_variant,,ENST00000403946,NM_001287489.1;OTOF,downstream_gene_variant,,ENST00000402415,NM_194322.2;OTOF,downstream_gene_variant,,ENST00000338581,NM_004802.3;OTOF,downstream_gene_variant,,ENST00000339598,NM_194323.2;DRC1,downstream_gene_variant,,ENST00000439066,;							MODERATE	2206/2223	R736W	DRC1_HUMAN			Transcript		benign(0.02)	.	ENSP00000288710	3.29E-05	CCDS1723.1			1	
ZNRF4	0	LGGM	GRCh37	19	5456055	5456055	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	33	4	.	.	ENST00000222033.4:c.553G>A	p.Val185Met	p.V185M	ENST00000222033	NM_181710.3	185	Gtg/Atg	0	1	1	UPI0000366CF5	0	NA	ENST00000222033		ENSG00000105428	17726		37	3.415		HGNC	p.V185M	COSM4081162	ZNRF4		SNV						1	ENST00000222033	protein_coding	getma.org/?cm=var&var=hg19,19,5456055,G,A&fts=all		Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF34,Superfamily_domains:SSF52025		V/M		A	medium	630/1442		getma.org/?cm=msa&ty=f&p=ZNRF4_HUMAN&rb=150&re=223&var=V185M	deleterious(0)				YES	ZNRF4,missense_variant,p.Val185Met,ENST00000222033,NM_181710.3;					1		MODERATE	553/1290	V185M	ZNRF4_HUMAN			Transcript		possibly_damaging(0.645)	.	ENSP00000222033		CCDS42475.1			1	
MCCC2	0	LGGM	GRCh37	5	70945049	70945049	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	56	4	.	.	ENST00000340941.6:c.1342G>A	p.Gly448Arg	p.G448R	ENST00000340941	NM_022132.4	448	Gga/Aga	0	1	1	UPI000012ED69	0	getma.org/pdb.php?prot=MCCB_HUMAN&from=74&to=558&var=G448R	ENST00000340941		ENSG00000131844	6937	0.000173	60	4.485		HGNC	p.G220R	rs766045910	MCCC2		SNV			1				ENST00000509539	protein_coding	getma.org/?cm=var&var=hg19,5,70945049,G,A&fts=all		PROSITE_profiles:PS50989,hmmpanther:PTHR22855,hmmpanther:PTHR22855:SF13,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		G/R		A	high	1471/3665		getma.org/?cm=msa&ty=f&p=MCCB_HUMAN&rb=74&re=558&var=G448R	deleterious_low_confidence(0)				YES	MCCC2,missense_variant,p.Gly448Arg,ENST00000340941,NM_022132.4;MCCC2,missense_variant,p.Gly410Arg,ENST00000323375,;MCCC2,missense_variant,p.Gly220Arg,ENST00000509539,;MCCC2,3_prime_UTR_variant,,ENST00000512218,;							MODERATE	1342/1692	G448R	MCCB_HUMAN	0.000151		Transcript		probably_damaging(1)	.	ENSP00000343657	2.47E-05	CCDS34184.1			1	
SASS6	0	LGGM	GRCh37	1	100588821	100588821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	27	4	.	.	ENST00000287482.5:c.151G>T	p.Asp51Tyr	p.D51Y	ENST00000287482	NM_194292.1	51	Gac/Tac	0	1	1	UPI00001BDF30	0	getma.org/pdb.php?prot=SAS6_HUMAN&from=39&to=91&var=D51Y	ENST00000287482		ENSG00000156876	25403		31	2.545		HGNC	p.D51Y		SASS6		SNV			1				ENST00000287482	protein_coding	getma.org/?cm=var&var=hg19,1,100588821,C,A&fts=all				D/Y		A	medium	292/3880		getma.org/?cm=msa&ty=f&p=SAS6_HUMAN&rb=39&re=91&var=D51Y	deleterious(0)	F5GXY5_HUMAN,B4DYM7_HUMAN			YES	SASS6,missense_variant,p.Asp51Tyr,ENST00000287482,NM_194292.1;SASS6,intron_variant,,ENST00000535161,;SASS6,non_coding_transcript_exon_variant,,ENST00000462159,;							MODERATE	151/1974	D51Y	SAS6_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000287482		CCDS764.1			1	
IGLV3-9	0	LGGM	GRCh37	22	23161966	23161966	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	23	4	.	.	ENST00000390316.2:c.59C>G	p.Ser20Cys	p.S20C	ENST00000390316		20	tCc/tGc	0	1	1	UPI0000EE5A41	0		ENST00000390316		ENSG00000211670	5918		27			HGNC	p.S20C		IGLV3-9		SNV							ENST00000390316	IG_V_gene			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267		S/C		G		174/461			deleterious(0)	A2MYD5_HUMAN			YES	IGLV3-9,missense_variant,p.Ser20Cys,ENST00000390316,;IGLV2-8,upstream_gene_variant,,ENST00000390317,;MIR650,upstream_gene_variant,,ENST00000385101,;LL22NC03-84E4.11,downstream_gene_variant,,ENST00000423259,;							MODERATE	59/346					Transcript		probably_damaging(0.968)	.	ENSP00000374851					1	
C1orf50	0	LGGM	GRCh37	1	43240486	43240486	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	85	4	.	.	ENST00000372525.5:c.361T>C	p.Tyr121His	p.Y121H	ENST00000372525	NM_024097.3	121	Tat/Cat	0	1	1	UPI000013E32F	0	NA	ENST00000372525		ENSG00000164008	28795		89	1.18		HGNC	p.Y121H		C1orf50		SNV							ENST00000372525	protein_coding	getma.org/?cm=var&var=hg19,1,43240486,T,C&fts=all		Pfam_domain:PF10504,hmmpanther:PTHR14553		Y/H		C	low	404/996		getma.org/?cm=msa&ty=f&p=CA050_HUMAN&rb=25&re=184&var=Y121H	tolerated(0.31)				YES	C1orf50,missense_variant,p.Tyr121His,ENST00000372525,NM_024097.3;C1orf50,5_prime_UTR_variant,,ENST00000536543,;RP5-994D16.9,downstream_gene_variant,,ENST00000447572,;C1orf50,non_coding_transcript_exon_variant,,ENST00000468913,;C1orf50,downstream_gene_variant,,ENST00000494155,;C1orf50,3_prime_UTR_variant,,ENST00000603943,;C1orf50,3_prime_UTR_variant,,ENST00000464081,;							MODERATE	361/600	Y121H	CA050_HUMAN			Transcript		benign(0.336)	.	ENSP00000361603		CCDS473.1			1	
TRPA1	0	LGGM	GRCh37	8	72984104	72984104	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	25	5	.	.	ENST00000262209.4:c.112-2A>C		p.X38_splice	ENST00000262209	NM_007332.2			0	1	1	UPI000021081A	0		ENST00000262209		ENSG00000104321	497		30			HGNC	-		TRPA1		SNV			1				ENST00000262209	protein_coding							G		-/5223							YES	TRPA1,splice_acceptor_variant,,ENST00000262209,NM_007332.2;RP11-383H13.1,intron_variant,,ENST00000518916,;							HIGH	112/3360		TRPA1_HUMAN			Transcript			.	ENSP00000262209		CCDS34908.1			1	
CD200R1L	0	LGGM	GRCh37	3	112545914	112545914	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	46	5	.	.	ENST00000398214.1:c.605G>A	p.Gly202Asp	p.G202D	ENST00000398214	NM_001008784.2	202	gGc/gAc	0	1	1	UPI000042263C	0	NA	ENST00000398214		ENSG00000206531	24665		51	-0.6		HGNC	p.G181D		CD200R1L		SNV							ENST00000448932	protein_coding	getma.org/?cm=var&var=hg19,3,112545914,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF3,Superfamily_domains:SSF48726		G/D		T	neutral	831/1296		getma.org/?cm=msa&ty=f&p=MO2R2_HUMAN&rb=142&re=219&var=G202D	tolerated(0.41)				YES	CD200R1L,missense_variant,p.Gly181Asp,ENST00000488794,;CD200R1L,missense_variant,p.Gly181Asp,ENST00000448932,NM_001199215.1;CD200R1L,missense_variant,p.Gly202Asp,ENST00000398214,NM_001008784.2;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;							MODERATE	605/816	G202D	MO2R2_HUMAN			Transcript		benign(0.009)	.	ENSP00000381272		CCDS43131.1			1	
UNC5CL	0	LGGM	GRCh37	6	41000675	41000675	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	10	5	.	.	ENST00000244565.3:c.897C>T	p.Asp299=	p.D299=	ENST00000244565	NM_173561.2	299	gaC/gaT	0	1	1	UPI00001609DB	0		ENST00000244565		ENSG00000124602	21203		15			HGNC	p.D299D		UNC5CL		SNV							ENST00000244565	protein_coding			hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF39		D		A		986/2986				H8YHX0_HUMAN			YES	UNC5CL,synonymous_variant,p.=,ENST00000244565,NM_173561.2;UNC5CL,synonymous_variant,p.=,ENST00000373164,;UNC5CL,non_coding_transcript_exon_variant,,ENST00000470102,;OARD1,downstream_gene_variant,,ENST00000482853,;							LOW	897/1557		UN5CL_HUMAN			Transcript			.	ENSP00000244565		CCDS4847.1			1	
PREX1	0	LGGM	GRCh37	20	47266745	47266745	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	21	6	.	.	ENST00000371941.3:c.2818-1G>T		p.X940_splice	ENST00000371941	NM_020820.3			0	1	1	UPI000013D375	0		ENST00000371941		ENSG00000124126	32594		27			HGNC	-		PREX1		SNV							ENST00000371941	protein_coding							A		-/6636							YES	PREX1,splice_acceptor_variant,,ENST00000396220,;PREX1,splice_acceptor_variant,,ENST00000371941,NM_020820.3;PREX1,splice_acceptor_variant,,ENST00000482556,;							HIGH	2818/4980		PREX1_HUMAN			Transcript			.	ENSP00000361009		CCDS13410.1			1	
PNPLA8	0	LGGM	GRCh37	7	108128314	108128314	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	48	6	.	.	ENST00000422087.1:c.1767C>T	p.Ile589=	p.I589=	ENST00000422087	NM_015723.3	589	atC/atT	0	1		UPI0000073D34	0		ENST00000257694		ENSG00000135241	28900		54			HGNC	p.I589I		PNPLA8		SNV							ENST00000422087	protein_coding			hmmpanther:PTHR24185,Pfam_domain:PF01734,Gene3D:3.40.1090.10,Superfamily_domains:SSF52151		I		A		2062/3490				C9JAX4_HUMAN,C9J9W9_HUMAN				PNPLA8,synonymous_variant,p.=,ENST00000422087,NM_015723.3;PNPLA8,synonymous_variant,p.=,ENST00000257694,NM_001256007.1;PNPLA8,synonymous_variant,p.=,ENST00000436062,NM_001256008.1;PNPLA8,synonymous_variant,p.=,ENST00000453144,NM_001256010.1;PNPLA8,synonymous_variant,p.=,ENST00000453085,NM_001256011.1;PNPLA8,intron_variant,,ENST00000426128,NM_001256009.1;PNPLA8,intron_variant,,ENST00000388728,;							LOW	1767/2349		PLPL8_HUMAN			Transcript			.	ENSP00000257694		CCDS34733.1			1	
VSIG10	0	LGGM	GRCh37	12	118511749	118511749	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	58	6	.	.	ENST00000359236.5:c.974G>C	p.Gly325Ala	p.G325A	ENST00000359236	NM_019086.5	325	gGc/gCc	0	1	1	UPI000007385F	0	getma.org/pdb.php?prot=VSI10_HUMAN&from=315&to=405&var=G325A	ENST00000359236		ENSG00000176834	26078		64	0.54		HGNC	p.G325A		VSIG10		SNV							ENST00000359236	protein_coding	getma.org/?cm=var&var=hg19,12,118511749,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF516,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/A		G	neutral	1251/4946		getma.org/?cm=msa&ty=f&p=VSI10_HUMAN&rb=315&re=405&var=G325A	deleterious(0.02)				YES	VSIG10,missense_variant,p.Gly325Ala,ENST00000359236,NM_019086.5;VSIG10,upstream_gene_variant,,ENST00000545259,;							MODERATE	974/1623	G325A	VSI10_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000352172		CCDS44992.1			1	
C5	0	LGGM	GRCh37	9	123770775	123770775	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	56	6	.	.	ENST00000223642.1:c.2259C>T	p.His753=	p.H753=	ENST00000223642	NM_001735.2	753	caC/caT	0	1	1	UPI000013C838	0		ENST00000223642		ENSG00000106804	1331		62			HGNC	p.H753H		C5		SNV			1				ENST00000223642	protein_coding			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83		H		A		2289/5462							YES	C5,splice_region_variant,p.=,ENST00000223642,NM_001735.2;C5,upstream_gene_variant,,ENST00000466280,;							LOW	2259/5031		CO5_HUMAN			Transcript			.	ENSP00000223642		CCDS6826.1			1	
CDYL2	0	LGGM	GRCh37	16	80646587	80646587	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	12	6	.	.	ENST00000570137.2:c.1154C>T	p.Thr385Ile	p.T385I	ENST00000570137	NM_152342.2	385	aCc/aTc	0	1	1	UPI00001B2954	0	getma.org/pdb.php?prot=CDYL2_HUMAN&from=253&to=501&var=T385I	ENST00000570137		ENSG00000166446	23030		18	1.2		HGNC	p.T385I		CDYL2		SNV							ENST00000299564	protein_coding	getma.org/?cm=var&var=hg19,16,80646587,G,A&fts=all		Gene3D:3.90.226.10,Pfam_domain:PF00378,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF52,Superfamily_domains:SSF52096		T/I		A	low	1310/8159		getma.org/?cm=msa&ty=f&p=CDYL2_HUMAN&rb=253&re=501&var=T385I	deleterious(0.01)				YES	CDYL2,missense_variant,p.Thr385Ile,ENST00000570137,NM_152342.2;CDYL2,missense_variant,p.Thr386Ile,ENST00000566173,;CDYL2,missense_variant,p.Thr386Ile,ENST00000562812,;CDYL2,missense_variant,p.Thr386Ile,ENST00000563890,;CDYL2,missense_variant,p.Thr202Ile,ENST00000561616,;							MODERATE	1154/1521	T385I	CDYL2_HUMAN			Transcript		possibly_damaging(0.744)	.	ENSP00000476295		CCDS32493.1			1	
C1orf43	0	LGGM	GRCh37	1	154187045	154187045	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	105	6	.	.	ENST00000368521.5:c.174G>C	p.Leu58Phe	p.L58F	ENST00000368521	NM_001098616.1	58	ttG/ttC	0	1	1	UPI0000070171	0	NA	ENST00000368521		ENSG00000143612	29876		111	2.485		HGNC	p.L58F		C1orf43		SNV							ENST00000368518	protein_coding	getma.org/?cm=var&var=hg19,1,154187045,C,G&fts=all		hmmpanther:PTHR21425,hmmpanther:PTHR21425:SF2,Pfam_domain:PF07406		L/F		G	medium	373/1708		getma.org/?cm=msa&ty=f&p=CA043_HUMAN&rb=1&re=189&var=L58F	deleterious(0)				YES	C1orf43,missense_variant,p.Leu58Phe,ENST00000368521,NM_001098616.1;C1orf43,missense_variant,p.Leu24Phe,ENST00000350592,NM_015449.2;C1orf43,missense_variant,p.Leu24Phe,ENST00000362076,NM_138740.2;C1orf43,missense_variant,p.Leu58Phe,ENST00000368518,;C1orf43,missense_variant,p.Leu58Phe,ENST00000368519,;C1orf43,missense_variant,p.Leu24Phe,ENST00000368516,;C1orf43,upstream_gene_variant,,ENST00000493814,;C1orf43,upstream_gene_variant,,ENST00000470180,;							MODERATE	174/762	L58F	CA043_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000357507		CCDS41404.1			1	
CDH11	0	LGGM	GRCh37	16	64981595	64981595	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	43	6	.	.	ENST00000268603.4:c.2302G>C	p.Asp768His	p.D768H	ENST00000268603	NM_001797.2	768	Gac/Cac	0	1	1	UPI000013D7C5	0	getma.org/pdb.php?prot=CAD11_HUMAN&from=641&to=789&var=D768H	ENST00000268603		ENSG00000140937	1750		49	3.38		HGNC	p.D768H		CDH11		SNV							ENST00000268603	protein_coding	getma.org/?cm=var&var=hg19,16,64981595,C,G&fts=all		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85		D/H		G	medium	2918/6857		getma.org/?cm=msa&ty=f&p=CAD11_HUMAN&rb=641&re=789&var=D768H	deleterious(0.03)	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN			YES	CDH11,missense_variant,p.Asp768His,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Asp642His,ENST00000566827,;CDH11,3_prime_UTR_variant,,ENST00000394156,;							MODERATE	2302/2391	D768H	CAD11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000268603		CCDS10803.1			1	
COL7A1	0	LGGM	GRCh37	3	48622474	48622474	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	16	7	.	.	ENST00000328333.8:c.3970C>A	p.Leu1324Ile	p.L1324I	ENST00000328333	NM_000094.3	1324	Cta/Ata	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		23	0.775		HGNC	p.L1324I		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48622474,G,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg		L/I		T	neutral	4078/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=1296&re=1361&var=L1324I					YES	COL7A1,missense_variant,p.Leu1324Ile,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Leu1324Ile,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000487017,;							MODERATE	3970/8835	L1324I	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
USHBP1	0	LGGM	GRCh37	19	17361175	17361175	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	27	7	.	.	ENST00000252597.3:c.1971A>G	p.Gln657=	p.Q657=	ENST00000252597	NM_031941.3	657	caA/caG	0	1	1	UPI000006F7A8	0		ENST00000252597		ENSG00000130307	24058		34			HGNC	p.Q657Q	rs748228895	USHBP1		SNV							ENST00000252597	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23347,hmmpanther:PTHR23347:SF5,Low_complexity_(Seg):seg		Q		C		2145/3335	1.52E-05			M0R3B1_HUMAN,M0R172_HUMAN			YES	USHBP1,synonymous_variant,p.=,ENST00000252597,NM_031941.3;USHBP1,synonymous_variant,p.=,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,;							LOW	1971/2112		USBP1_HUMAN			Transcript			.	ENSP00000252597	8.24E-06	CCDS12353.1			1	
ADCYAP1R1	0	LGGM	GRCh37	7	31139748	31139748	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	45	7	.	.	ENST00000396211.2:c.1054G>A	p.Val352Met	p.V352M	ENST00000396211		352	Gtg/Atg	0	1		UPI0000061EE0	0	NA	ENST00000304166		ENSG00000078549	242		52	0.345		HGNC	p.V352M	rs569857013	ADCYAP1R1		SNV							ENST00000396211	protein_coding	getma.org/?cm=var&var=hg19,7,31139748,G,A&fts=all						A	neutral	-/6487		getma.org/?cm=msa&ty=f&p=E9PFU5_HUMAN&rb=150&re=452&var=V380M		C9JVH3_HUMAN				ADCYAP1R1,missense_variant,p.Val380Met,ENST00000409489,;ADCYAP1R1,missense_variant,p.Val352Met,ENST00000396211,;ADCYAP1R1,intron_variant,,ENST00000304166,NM_001199636.1,NM_001199635.1,NM_001118.4;ADCYAP1R1,intron_variant,,ENST00000409363,NM_001199637.1;ADCYAP1R1,intron_variant,,ENST00000436116,;							MODIFIER	-/1407	V380M	PACR_HUMAN			Transcript			.	ENSP00000306620		CCDS5433.1			1	
STAU2	0	LGGM	GRCh37	8	74526020	74526020	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	28	7	.	.	ENST00000524300.1:c.850C>T	p.Pro284Ser	p.P284S	ENST00000524300	NM_001164381.1	284	Cca/Tca	0	1	1	UPI000013D271	0	NA	ENST00000524300		ENSG00000040341	11371		35	1.265		HGNC	p.P246S		STAU2		SNV							ENST00000517542	protein_coding	getma.org/?cm=var&var=hg19,8,74526020,G,A&fts=all		Gene3D:3.30.160.20,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF60,Low_complexity_(Seg):seg,Superfamily_domains:SSF54768		P/S		A	low	1201/3065		getma.org/?cm=msa&ty=f&p=STAU2_HUMAN&rb=273&re=307&var=P284S	tolerated(0.19)	E5RJN7_HUMAN			YES	STAU2,missense_variant,p.Pro252Ser,ENST00000355780,NM_014393.2;STAU2,missense_variant,p.Pro264Ser,ENST00000521727,;STAU2,missense_variant,p.Pro284Ser,ENST00000519961,;STAU2,missense_variant,p.Pro284Ser,ENST00000524300,NM_001164381.1,NM_001164380.1;STAU2,missense_variant,p.Pro64Ser,ENST00000521451,;STAU2,missense_variant,p.Pro252Ser,ENST00000522695,;STAU2,missense_variant,p.Pro252Ser,ENST00000522509,NM_001164384.1;STAU2,missense_variant,p.Pro180Ser,ENST00000521210,NM_001164382.1;STAU2,missense_variant,p.Pro246Ser,ENST00000517542,NM_001164385.1;STAU2,missense_variant,p.Pro112Ser,ENST00000523558,NM_001164383.1;STAU2,missense_variant,p.Pro112Ser,ENST00000518767,;STAU2,intron_variant,,ENST00000518502,;STAU2,downstream_gene_variant,,ENST00000521447,;STAU2,downstream_gene_variant,,ENST00000521293,;STAU2,missense_variant,p.Pro264Ser,ENST00000518981,;							MODERATE	850/1713	P284S				Transcript		probably_damaging(0.962)	.	ENSP00000428756		CCDS55247.1			1	
ZNF564	0	LGGM	GRCh37	19	12638713	12638713	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	63	7	.	.	ENST00000339282.7:c.209G>C	p.Gly70Ala	p.G70A	ENST00000339282	NM_144976.3	70	gGa/gCa	0	1	1	UPI0000051C17	0	NA	ENST00000339282		ENSG00000249709	31106		70	0.155		HGNC	p.G70A		ZNF564		SNV							ENST00000339282	protein_coding	getma.org/?cm=var&var=hg19,19,12638713,C,G&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF10		G/A		G	neutral	406/2935		getma.org/?cm=msa&ty=f&p=ZN564_HUMAN&rb=4&re=83&var=G70A	deleterious(0.02)	M0QZN8_HUMAN			YES	ZNF564,missense_variant,p.Gly70Ala,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,;ZNF564,3_prime_UTR_variant,,ENST00000427105,;							MODERATE	209/1662	G70A	ZN564_HUMAN			Transcript		benign(0)	.	ENSP00000340004		CCDS42505.1			1	
KIAA1033	0	LGGM	GRCh37	12	105538514	105538514	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	42	7	.	.	ENST00000332180.5:c.2198T>G	p.Leu733Arg	p.L733R	ENST00000332180	NM_015275.1	733	cTa/cGa	0	1	1	UPI00001C1F3B	0	NA	ENST00000332180		ENSG00000136051	29174		49	2.97		HGNC	p.L733R		KIAA1033		SNV			1				ENST00000332180	protein_coding	getma.org/?cm=var&var=hg19,12,105538514,T,G&fts=all		hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14744		L/R		G	medium	2285/5812		getma.org/?cm=msa&ty=f&p=WASH7_HUMAN&rb=601&re=800&var=L733R	deleterious(0)	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN			YES	KIAA1033,missense_variant,p.Leu733Arg,ENST00000332180,NM_015275.1;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000548534,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000550613,;KIAA1033,upstream_gene_variant,,ENST00000550786,;							MODERATE	2198/3522	L733R	WASH7_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000328062		CCDS41826.1			1	
PPP1R3A	0	LGGM	GRCh37	7	113519888	113519888	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	79	7	.	.	ENST00000284601.3:c.1259G>C	p.Gly420Ala	p.G420A	ENST00000284601	NM_002711.3	420	gGa/gCa	0	1	1	UPI000013DDAA	0	NA	ENST00000284601		ENSG00000154415	9291		86	2.075		HGNC	p.G420A		PPP1R3A		SNV			1				ENST00000284601	protein_coding	getma.org/?cm=var&var=hg19,7,113519888,C,G&fts=all		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2		G/A		G	medium	1328/4384		getma.org/?cm=msa&ty=f&p=PPR3A_HUMAN&rb=241&re=1120&var=G420A	tolerated(0.76)	C9JZB3_HUMAN			YES	PPP1R3A,missense_variant,p.Gly420Ala,ENST00000284601,NM_002711.3;PPP1R3A,missense_variant,p.Gly99Ala,ENST00000449795,;PPP1R3A,3_prime_UTR_variant,,ENST00000284602,;							MODERATE	1259/3369	G420A	PPR3A_HUMAN			Transcript		benign(0.01)	.	ENSP00000284601		CCDS5759.1			1	
COL12A1	0	LGGM	GRCh37	6	75866129	75866129	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	24	7	.	.	ENST00000322507.8:c.3094C>A	p.Pro1032Thr	p.P1032T	ENST00000322507	NM_004370.5	1032	Cct/Act	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=999&to=1077&var=P1032T	ENST00000322507		ENSG00000111799	2188		31	3.15		HGNC	p.P1032T		COL12A1		SNV			1				ENST00000483888	protein_coding	getma.org/?cm=var&var=hg19,6,75866129,G,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/T		T	medium	3404/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=999&re=1077&var=P1032T					YES	COL12A1,missense_variant,p.Pro1032Thr,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Pro1032Thr,ENST00000483888,;COL12A1,missense_variant,p.Pro1032Thr,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000419671,;							MODERATE	3094/9192	P1032T	COCA1_HUMAN			Transcript		benign(0.038)	.	ENSP00000325146		CCDS43482.1			1	
AP1M1	0	LGGM	GRCh37	19	16314393	16314393	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	35	7	.	.	ENST00000444449.2:c.166C>T	p.Arg56Cys	p.R56C	ENST00000444449	NM_001130524.1	56	Cgt/Tgt	0	1		UPI0000124FEA	0	getma.org/pdb.php?prot=AP1M1_HUMAN&from=2&to=141&var=R56C	ENST00000291439		ENSG00000072958	13667		42	-0.145		HGNC	p.R30C	COSM242988	AP1M1		SNV						1	ENST00000589822	protein_coding	getma.org/?cm=var&var=hg19,19,16314393,C,T&fts=all		Gene3D:3.30.450.60,Pfam_domain:PF01217,PIRSF_domain:PIRSF005992,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF22,Superfamily_domains:SSF64356		R/C		T	neutral	615/2635		getma.org/?cm=msa&ty=f&p=AP1M1_HUMAN&rb=2&re=141&var=R56C	tolerated(0.12)	K7ER75_HUMAN,K7EQ90_HUMAN,K7EPJ8_HUMAN,K7ENA7_HUMAN				AP1M1,missense_variant,p.Arg56Cys,ENST00000291439,NM_032493.3;AP1M1,missense_variant,p.Arg56Cys,ENST00000444449,NM_001130524.1;AP1M1,missense_variant,p.Arg56Cys,ENST00000429941,;AP1M1,missense_variant,p.Arg30Cys,ENST00000591775,;AP1M1,missense_variant,p.Arg30Cys,ENST00000589822,;AP1M1,missense_variant,p.Arg30Cys,ENST00000590945,;AP1M1,missense_variant,p.Arg56Cys,ENST00000590263,;AP1M1,intron_variant,,ENST00000541844,;AP1M1,intron_variant,,ENST00000590756,;AP1M1,non_coding_transcript_exon_variant,,ENST00000589991,;AP1M1,non_coding_transcript_exon_variant,,ENST00000586957,;AP1M1,upstream_gene_variant,,ENST00000589782,;					1		MODERATE	166/1272	R56C	AP1M1_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000291439		CCDS12342.1			1	
MUC16	0	LGGM	GRCh37	19	9089385	9089385	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	187	7	.	.	ENST00000397910.4:c.2430C>A	p.Ser810Arg	p.S810R	ENST00000397910	NM_024690.2	810	agC/agA	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		194	0		HGNC	p.S810R		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9089385,G,T&fts=all				S/R		T	neutral	2634/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=743&re=942&var=S810R		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser810Arg,ENST00000397910,NM_024690.2;							MODERATE	2430/43524	S810R				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
SIGLEC1	0	LGGM	GRCh37	20	3674884	3674884	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	41	8	.	.	ENST00000344754.4:c.3240T>C	p.Ala1080=	p.A1080=	ENST00000344754	NM_023068.3	1080	gcT/gcC	0	1	1	UPI0000049BA6	0		ENST00000344754		ENSG00000088827	11127		49			HGNC	p.A1080A		SIGLEC1		SNV							ENST00000344754	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		G		3240/6720							YES	SIGLEC1,synonymous_variant,p.=,ENST00000344754,NM_023068.3;SIGLEC1,synonymous_variant,p.=,ENST00000202578,;SIGLEC1,upstream_gene_variant,,ENST00000419548,;							LOW	3240/5130		SN_HUMAN			Transcript			.	ENSP00000341141		CCDS13060.1			1	
FOSB	0	LGGM	GRCh37	19	45976245	45976245	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	40	8	.	.	ENST00000353609.3:c.992A>C	p.Asn331Thr	p.N331T	ENST00000353609	NM_006732.2	331	aAc/aCc	0	1	1	UPI000004F5D2	0	NA	ENST00000353609		ENSG00000125740	3797		48	1.7		HGNC	p.N282T		FOSB		SNV							ENST00000586615	protein_coding	getma.org/?cm=var&var=hg19,19,45976245,A,C&fts=all		hmmpanther:PTHR23351:SF3,hmmpanther:PTHR23351		N/T		C	low	1584/3775		getma.org/?cm=msa&ty=f&p=FOSB_HUMAN&rb=214&re=338&var=N331T	deleterious(0.02)	Q49AD7_HUMAN,K7ERZ8_HUMAN,K7EKC1_HUMAN,K7EKA0_HUMAN			YES	FOSB,missense_variant,p.Asn331Thr,ENST00000353609,NM_006732.2;FOSB,missense_variant,p.Asn282Thr,ENST00000586615,;FOSB,missense_variant,p.Asn295Thr,ENST00000417353,NM_001114171.1;FOSB,missense_variant,p.Asn292Thr,ENST00000591858,;FOSB,missense_variant,p.Asn256Thr,ENST00000585836,;FOSB,missense_variant,p.Asn188Thr,ENST00000443841,;FOSB,3_prime_UTR_variant,,ENST00000592811,;FOSB,3_prime_UTR_variant,,ENST00000592436,;ERCC1,intron_variant,,ENST00000423698,;FOSB,downstream_gene_variant,,ENST00000590335,;FOSB,downstream_gene_variant,,ENST00000589593,;FOSB,non_coding_transcript_exon_variant,,ENST00000587358,;FOSB,downstream_gene_variant,,ENST00000586113,;							MODERATE	992/1017	N331T	FOSB_HUMAN			Transcript		benign(0.258)	.	ENSP00000245919		CCDS12664.1			1	
KRTAP5-10	0	LGGM	GRCh37	11	71277208	71277208	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	87	8	.	.	ENST00000398531.1:c.575G>A	p.Cys192Tyr	p.C192Y	ENST00000398531	NM_001012710.1	192	tGc/tAc	0	1	1	UPI0000376062	0	NA	ENST00000398531		ENSG00000204572	23605		95	3.16		HGNC	p.C144Y	rs371326844	KRTAP5-10		SNV	A:0.0002						ENST00000376536	protein_coding	getma.org/?cm=var&var=hg19,11,71277208,G,A&fts=all		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF47,Low_complexity_(Seg):seg		C/Y	A:0	A	medium	600/1058		getma.org/?cm=msa&ty=f&p=KR510_HUMAN&rb=155&re=201&var=C192Y					YES	KRTAP5-10,missense_variant,p.Cys192Tyr,ENST00000398531,NM_001012710.1;KRTAP5-10,missense_variant,p.Cys144Tyr,ENST00000376536,;AP000867.14,upstream_gene_variant,,ENST00000511464,;							MODERATE	575/609	C192Y	KR510_HUMAN			Transcript		unknown(0)	.	ENSP00000381542		CCDS41684.1			1	
RNF219	0	LGGM	GRCh37	13	79233236	79233236	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	10	8	.	.	ENST00000282003.6:c.20A>C	p.Asn7Thr	p.N7T	ENST00000282003	NM_024546.3	7	aAt/aCt	0	1	1	UPI0000458868	0	NA	ENST00000282003		ENSG00000152193	20308		18	0.205		HGNC	p.N7T		RNF219		SNV							ENST00000282003	protein_coding	getma.org/?cm=var&var=hg19,13,79233236,T,G&fts=all		hmmpanther:PTHR14609		N/T		G	neutral	79/3529		getma.org/?cm=msa&ty=f&p=RN219_HUMAN&rb=1&re=44&var=N7T	tolerated(0.25)				YES	RNF219,missense_variant,p.Asn7Thr,ENST00000282003,NM_024546.3;							MODERATE	20/2181	N7T	RN219_HUMAN			Transcript		possibly_damaging(0.494)	.	ENSP00000282003		CCDS31997.1			1	
ACP5	0	LGGM	GRCh37	19	11687073	11687073	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	8	8	.	.	ENST00000592828.1:c.720C>T	p.His240=	p.H240=	ENST00000592828	NM_001111034.1	240	caC/caT	0	1		UPI0000001288	0		ENST00000218758		ENSG00000102575	124		16			HGNC	p.H240H	rs374919506	ACP5	0.000502	SNV	A:0		1	0.000332			ENST00000592828	protein_coding			hmmpanther:PTHR10161,Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF000898,Superfamily_domains:SSF56300		H	A:0.0001	A		1022/1630	3.19E-05			K7ESF2_HUMAN,K7EJD9_HUMAN,K7EIP0_HUMAN				ACP5,synonymous_variant,p.=,ENST00000592828,NM_001111034.1;ACP5,synonymous_variant,p.=,ENST00000218758,NM_001111035.1;ACP5,synonymous_variant,p.=,ENST00000412435,NM_001111036.1;ACP5,synonymous_variant,p.=,ENST00000433365,NM_001611.3;ZNF627,intron_variant,,ENST00000585493,;ACP5,intron_variant,,ENST00000590420,;ACP5,downstream_gene_variant,,ENST00000592659,;ACP5,downstream_gene_variant,,ENST00000590832,;ACP5,downstream_gene_variant,,ENST00000591319,;ACP5,downstream_gene_variant,,ENST00000589792,;ZNF627,intron_variant,,ENST00000593279,;ZNF627,downstream_gene_variant,,ENST00000588651,;ACP5,downstream_gene_variant,,ENST00000588524,;ACP5,downstream_gene_variant,,ENST00000588079,;ACP5,downstream_gene_variant,,ENST00000588625,;							LOW	720/978		PPA5_HUMAN			Transcript			common_variant	ENSP00000218758	0.000107	CCDS12265.1			1	
DPEP3	0	LGGM	GRCh37	16	68009827	68009827	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	39	8	.	.	ENST00000268793.4:c.1383C>T	p.Ser461=	p.S461=	ENST00000268793	NM_022357.3	461	tcC/tcT	0	1	1	UPI000006F093	0		ENST00000268793		ENSG00000141096	23029		47			HGNC	p.S461S		DPEP3		SNV							ENST00000268793	protein_coding			PROSITE_profiles:PS51365,hmmpanther:PTHR10443:SF14,hmmpanther:PTHR10443,Superfamily_domains:SSF51556		S		A		1757/2018							YES	DPEP3,synonymous_variant,p.=,ENST00000268793,NM_022357.3,NM_001129758.1;DPEP3,downstream_gene_variant,,ENST00000574342,;							LOW	1383/1542		DPEP3_HUMAN			Transcript			.	ENSP00000268793		CCDS10856.1			1	
FLG	0	LGGM	GRCh37	1	152280314	152280314	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	123	8	.	.	ENST00000368799.1:c.7048C>T	p.Gln2350Ter	p.Q2350*	ENST00000368799	NM_002016.1	2350	Caa/Taa	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		131	0		HGNC	p.Q2350X	rs768181237	FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152280314,G,A&fts=all		Pfam_domain:PF03516		Q/*		A	NA	7084/12747		NA		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,stop_gained,p.Gln2350Ter,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	0.000116						HIGH	7048/12186	Q2350*	FILA_HUMAN			Transcript			.	ENSP00000357789	8.25E-06	CCDS30860.1			1	
IDI1	0	LGGM	GRCh37	10	1089280	1089280	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	54	9	.	.	ENST00000381344.3:c.367C>A	p.Leu123Met	p.L123M	ENST00000381344	NM_004508.2	123	Ctg/Atg	0	1	1	UPI0000231C9C	0	getma.org/pdb.php?prot=IDI1_HUMAN&from=50&to=200&var=L66M	ENST00000381344		ENSG00000067064	5387		63	2.595		HGNC	p.L37M		IDI1		SNV							ENST00000427898	protein_coding	getma.org/?cm=var&var=hg19,10,1089280,G,T&fts=all		PROSITE_profiles:PS51462,hmmpanther:PTHR10885:SF3,hmmpanther:PTHR10885,TIGRFAM_domain:TIGR02150,Gene3D:3.90.79.10,Pfam_domain:PF00293,PIRSF_domain:PIRSF018427,Superfamily_domains:SSF55811		L/M		T	medium	534/2301		getma.org/?cm=msa&ty=f&p=IDI1_HUMAN&rb=50&re=200&var=L66M	deleterious(0)	C9JKM8_HUMAN			YES	IDI1,missense_variant,p.Leu123Met,ENST00000381344,NM_004508.2;IDI1,missense_variant,p.Leu66Met,ENST00000429642,;IDI1,missense_variant,p.Leu37Met,ENST00000427898,;RNU7-163P,upstream_gene_variant,,ENST00000459467,;IDI2-AS1,intron_variant,,ENST00000428780,;IDI2-AS1,intron_variant,,ENST00000437374,;IDI2-AS1,intron_variant,,ENST00000536039,;IDI2-AS1,intron_variant,,ENST00000420381,;IDI1,non_coding_transcript_exon_variant,,ENST00000491735,;IDI1,non_coding_transcript_exon_variant,,ENST00000482091,;							MODERATE	367/855	L66M	IDI1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000370748		CCDS7056.1			1	
CUL9	0	LGGM	GRCh37	6	43181595	43181595	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	52	9	.	.	ENST00000252050.4:c.5633G>A	p.Arg1878His	p.R1878H	ENST00000252050	NM_015089.2	1878	cGt/cAt	0	1	1	UPI000006F22F	0	NA	ENST00000252050		ENSG00000112659	15982	8.67E-05	61	1.655		HGNC	p.R1878H	rs376937379	CUL9	6.07E-05	SNV	A:0.0002			9.73E-05			ENST00000252050	protein_coding	getma.org/?cm=var&var=hg19,6,43181595,G,A&fts=all	A:0	hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,SMART_domains:SM00884		R/H	A:0.0002	A	low	5717/7780	7.53E-05	getma.org/?cm=msa&ty=f&p=CUL9_HUMAN&rb=1839&re=2038&var=R1878H	tolerated(0.31)		A:0	A:0	YES	CUL9,missense_variant,p.Arg1878His,ENST00000252050,NM_015089.2;CUL9,missense_variant,p.Arg1850His,ENST00000372647,;CUL9,missense_variant,p.Arg1768His,ENST00000354495,;RP3-330M21.5,non_coding_transcript_exon_variant,,ENST00000500590,;CUL9,downstream_gene_variant,,ENST00000502937,;CUL9,missense_variant,p.Arg12His,ENST00000506830,;CUL9,3_prime_UTR_variant,,ENST00000502719,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000513904,;CUL9,non_coding_transcript_exon_variant,,ENST00000508656,;CUL9,downstream_gene_variant,,ENST00000504485,;CUL9,downstream_gene_variant,,ENST00000505172,;		A:0.0002					MODERATE	5633/7554	R1878H	CUL9_HUMAN		A:0	Transcript		benign(0.29)	.	ENSP00000252050	6.59E-05	CCDS4890.1		A:0.001	1	
BCAS4	0	LGGM	GRCh37	20	49458360	49458360	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	22	9	.	.	ENST00000358791.5:c.412G>A	p.Ala138Thr	p.A138T	ENST00000358791	NM_017843.3	138	Gct/Act	0	1	1	UPI0000070BBB	0	NA	ENST00000358791		ENSG00000124243	14367		31	2.395		HGNC	p.A138T		BCAS4		SNV							ENST00000371608	protein_coding	getma.org/?cm=var&var=hg19,20,49458360,G,A&fts=all		hmmpanther:PTHR16230,hmmpanther:PTHR16230:SF5		A/T		A	medium	512/1378		getma.org/?cm=msa&ty=f&p=BCAS4_HUMAN&rb=1&re=149&var=A138T	deleterious(0)				YES	BCAS4,missense_variant,p.Ala138Thr,ENST00000358791,NM_017843.3;BCAS4,missense_variant,p.Ala138Thr,ENST00000371608,NM_198799.2;BCAS4,missense_variant,p.Ala108Thr,ENST00000609336,;BCAS4,intron_variant,,ENST00000262591,NM_001010974.1;BCAS4,intron_variant,,ENST00000445038,;BCAS4,3_prime_UTR_variant,,ENST00000463943,;TMSB4XP6,upstream_gene_variant,,ENST00000415187,;							MODERATE	412/636	A138T	BCAS4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351642		CCDS33487.1			1	
GLT8D2	0	LGGM	GRCh37	12	104396960	104396960	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	76	9	.	.	ENST00000360814.4:c.237C>T	p.Asn79=	p.N79=	ENST00000360814	NM_031302.3	79	aaC/aaT	0	1	1	UPI000004B633	0		ENST00000360814		ENSG00000120820	24890		85			HGNC	p.N79N		GLT8D2		SNV							ENST00000546436	protein_coding			hmmpanther:PTHR13778,hmmpanther:PTHR13778:SF2,Gene3D:3.90.550.10,Pfam_domain:PF01501,Superfamily_domains:SSF53448		N		A		643/1880				F8VZP2_HUMAN			YES	GLT8D2,synonymous_variant,p.=,ENST00000360814,NM_031302.3;GLT8D2,synonymous_variant,p.=,ENST00000548660,;GLT8D2,synonymous_variant,p.=,ENST00000546436,;GLT8D2,synonymous_variant,p.=,ENST00000546851,;GLT8D2,non_coding_transcript_exon_variant,,ENST00000550816,;							LOW	237/1050		GL8D2_HUMAN			Transcript			.	ENSP00000354053		CCDS9096.1			1	
MED19	0	LGGM	GRCh37	11	57472550	57472550	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	38	9	.	.	ENST00000337672.2:c.369T>G	p.Asp123Glu	p.D123E	ENST00000337672	NM_153450.1	123	gaT/gaG	0	1	1	UPI00000746CC	0	NA	ENST00000337672		ENSG00000156603	29600		47	1.5		HGNC	p.D123E		MED19		SNV							ENST00000337672	protein_coding	getma.org/?cm=var&var=hg19,11,57472550,A,C&fts=all		Pfam_domain:PF10278,hmmpanther:PTHR22536		D/E		C	low	391/1515		getma.org/?cm=msa&ty=f&p=MED19_HUMAN&rb=63&re=234&var=D123E	tolerated(0.15)				YES	MED19,missense_variant,p.Asp123Glu,ENST00000337672,NM_153450.1;MED19,missense_variant,p.Asp123Glu,ENST00000431606,;ZDHHC5,downstream_gene_variant,,ENST00000287169,NM_015457.2;ZDHHC5,downstream_gene_variant,,ENST00000527985,;MED19,non_coding_transcript_exon_variant,,ENST00000528205,;MED19,non_coding_transcript_exon_variant,,ENST00000534677,;ZDHHC5,downstream_gene_variant,,ENST00000529480,;							MODERATE	369/585	D123E	MED19_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000337340		CCDS7966.1			1	
STEAP4	0	LGGM	GRCh37	7	87912034	87912034	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	37	9	.	.	ENST00000380079.4:c.906C>A	p.Phe302Leu	p.F302L	ENST00000380079	NM_024636.3	302	ttC/ttA	0	1	1	UPI000003C39A	0	NA	ENST00000380079		ENSG00000127954	21923		46	1.105		HGNC	p.F302L		STEAP4		SNV							ENST00000414498	protein_coding	getma.org/?cm=var&var=hg19,7,87912034,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5,Pfam_domain:PF01794		F/L		T	low	1008/4451		getma.org/?cm=msa&ty=f&p=STEA4_HUMAN&rb=247&re=395&var=F302L	tolerated(0.4)				YES	STEAP4,missense_variant,p.Phe302Leu,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,missense_variant,p.Phe302Leu,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,;							MODERATE	906/1380	F302L	STEA4_HUMAN			Transcript		benign(0.026)	.	ENSP00000369419		CCDS43611.1			1	
TRPC4	0	LGGM	GRCh37	13	38225417	38225417	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	86	9	.	.	ENST00000379681.3:c.2064T>C	p.Ser688=	p.S688=	ENST00000379681	NM_001135955.1	688	agT/agC	0	1		UPI00001374B2	0		ENST00000379705		ENSG00000133107	12336		95			HGNC	p.S688S		TRPC4		SNV							ENST00000447043	protein_coding			hmmpanther:PTHR10117:SF25,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870		S		G		2922/4059								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.=,ENST00000379679,;TRPC4,3_prime_UTR_variant,,ENST00000426868,;TRPC4,intron_variant,,ENST00000379673,NM_001135956.1;TRPC4,3_prime_UTR_variant,,ENST00000488717,;							LOW	2064/2934		TRPC4_HUMAN			Transcript			.	ENSP00000369027		CCDS9365.1			1	
GLIPR1L2	0	LGGM	GRCh37	12	75816729	75816729	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	76	9	.	.	ENST00000550916.1:c.630T>C	p.Thr210=	p.T210=	ENST00000550916	NM_001270396.1	210	acT/acC	0	1	1	UPI00001408B2	0		ENST00000550916		ENSG00000180481	28592		85			HGNC	p.T103T		GLIPR1L2		SNV							ENST00000378692	protein_coding			hmmpanther:PTHR10334:SF191,hmmpanther:PTHR10334,Gene3D:3.40.33.10		T		C		677/2609							YES	GLIPR1L2,synonymous_variant,p.=,ENST00000550916,NM_001270396.1;GLIPR1L2,synonymous_variant,p.=,ENST00000378692,;GLIPR1L2,synonymous_variant,p.=,ENST00000320460,NM_152436.2;GLIPR1L2,synonymous_variant,p.=,ENST00000441218,;GLIPR1L2,3_prime_UTR_variant,,ENST00000435775,;GLIPR1L2,downstream_gene_variant,,ENST00000547164,;							LOW	630/1035		GRPL2_HUMAN			Transcript			.	ENSP00000448248		CCDS58258.1			1	
MYO5C	0	LGGM	GRCh37	15	52515873	52515873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	51	10	.	.	ENST00000261839.7:c.3495G>T	p.Glu1165Asp	p.E1165D	ENST00000261839	NM_018728.3	1165	gaG/gaT	0	1	1	UPI000013D20E	0	NA	ENST00000261839		ENSG00000128833	7604		61	1.32		HGNC	p.E1165D		MYO5C		SNV							ENST00000261839	protein_coding	getma.org/?cm=var&var=hg19,15,52515873,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140		E/D		A	low	3657/6971		getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=1091&re=1220&var=E1165D	tolerated(0.09)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Glu1165Asp,ENST00000261839,NM_018728.3;MYO5C,3_prime_UTR_variant,,ENST00000560809,;							MODERATE	3495/5229	E1165D	MYO5C_HUMAN			Transcript		benign(0.003)	.	ENSP00000261839		CCDS42036.1			1	
SERPINA9	0	LGGM	GRCh37	14	94931086	94931086	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	44	10	.	.	ENST00000337425.5:c.1062T>C	p.Asp354=	p.D354=	ENST00000337425	NM_175739.3	354	gaT/gaC	0	1		UPI000003B052	0		ENST00000380365		ENSG00000170054	15995		54			HGNC	p.D205D		SERPINA9		SNV							ENST00000424550	protein_coding			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF40,SMART_domains:SM00093,Superfamily_domains:SSF56574		D		G		1087/1333								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,;SERPINA9,3_prime_UTR_variant,,ENST00000538527,;							LOW	1008/1254		SPA9_HUMAN			Transcript			.	ENSP00000369723					1	
PCDHGA4	0	LGGM	GRCh37	5	140736275	140736275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	112	10	.	.	ENST00000571252.1:c.1508C>A	p.Ser503Tyr	p.S503Y	ENST00000571252	NM_018917.2	503	tCc/tAc	0	1	1	UPI0000070861	0	getma.org/pdb.php?prot=PCDG4_HUMAN&from=457&to=553&var=S503Y	ENST00000571252		ENSG00000262576	8702		122	3.695		HGNC	p.S503Y		PCDHGA4		SNV							ENST00000571252	protein_coding	getma.org/?cm=var&var=hg19,5,140736275,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,SMART_domains:SM00112,Superfamily_domains:SSF49313		S/Y		A	high	1508/4602		getma.org/?cm=msa&ty=f&p=PCDG4_HUMAN&rb=457&re=553&var=S503Y	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA4,missense_variant,p.Ser503Tyr,ENST00000571252,NM_018917.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2,NM_032096.1;							MODERATE	1508/2796	S503Y	PCDG4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000458570		CCDS58979.1			1	
NCBP1	0	LGGM	GRCh37	9	100407928	100407928	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	41	11	.	.	ENST00000375147.3:c.525A>G	p.Ser175=	p.S175=	ENST00000375147	NM_002486.4	175	tcA/tcG	0	1	1	UPI0000112754	0		ENST00000375147		ENSG00000136937	7658		52			HGNC	p.S175S		NCBP1		SNV							ENST00000375147	protein_coding			Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR12412,SMART_domains:SM00543,Superfamily_domains:SSF48371		S		G		781/5178							YES	NCBP1,synonymous_variant,p.=,ENST00000375147,NM_002486.4;NCBP1,intron_variant,,ENST00000478100,;							LOW	525/2373		NCBP1_HUMAN			Transcript			.	ENSP00000364289		CCDS6728.1			1	
NUFIP1	0	LGGM	GRCh37	13	45517681	45517681	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	121	11	.	.	ENST00000379161.4:c.1267C>T	p.Arg423Ter	p.R423*	ENST00000379161	NM_012345.2	423	Cga/Tga	0	1	1	UPI000013C768	0	NA	ENST00000379161		ENSG00000083635	8057		132	0		HGNC	p.R423X		NUFIP1		SNV							ENST00000379161	protein_coding	getma.org/?cm=var&var=hg19,13,45517681,G,A&fts=all		hmmpanther:PTHR13309		R/*		A	NA	1314/3492		NA					YES	NUFIP1,stop_gained,p.Arg423Ter,ENST00000379161,NM_012345.2;							HIGH	1267/1488	R423*	NUFP1_HUMAN			Transcript			.	ENSP00000368459		CCDS9393.1			1	
ZNF99	0	LGGM	GRCh37	19	22942326	22942326	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	109	11	.	.	ENST00000596209.1:c.385G>T	p.Ala129Ser	p.A129S	ENST00000596209	NM_001080409.2	129	Gct/Tct	0	1	1	UPI0000426011	0	NA	ENST00000596209		ENSG00000213973	13175		120	-1.005		HGNC	p.A129S		ZNF99		SNV							ENST00000596209	protein_coding	getma.org/?cm=var&var=hg19,19,22942326,C,A&fts=all		hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375		A/S		A	neutral	476/2686		getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=66&re=179&var=A150S	tolerated(0.56)	M0R335_HUMAN			YES	ZNF99,missense_variant,p.Ala150Ser,ENST00000397104,;ZNF99,missense_variant,p.Ala129Ser,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODERATE	385/2595	A150S				Transcript		benign(0.028)	.	ENSP00000472969		CCDS59369.1			1	
SLC6A19	0	LGGM	GRCh37	5	1213653	1213653	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	20	11	.	.	ENST00000304460.10:c.739G>T	p.Ala247Ser	p.A247S	ENST00000304460	NM_001003841.2	247	Gcc/Tcc	0	1	1	UPI0000401AF8	0	getma.org/pdb.php?prot=S6A19_HUMAN&from=32&to=608&var=A247S	ENST00000304460		ENSG00000174358	27960		31	0.81		HGNC	p.R216L	rs201050149	SLC6A19	6.13E-05	SNV	A:0		1				ENST00000515652	protein_coding	getma.org/?cm=var&var=hg19,5,1213653,G,T&fts=all	A:0	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF125,Pfam_domain:PF00209,Superfamily_domains:0053687		A/S	A:0.0001	T	low	795/5174		getma.org/?cm=msa&ty=f&p=S6A19_HUMAN&rb=32&re=608&var=A247S	tolerated(0.26)	B3KVZ8_HUMAN	A:0.0014	A:0	YES	SLC6A19,missense_variant,p.Ala247Ser,ENST00000304460,NM_001003841.2;SLC6A19,missense_variant,p.Arg216Leu,ENST00000515652,;		A:0.0002					MODERATE	739/1905	A247S	S6A19_HUMAN		A:0	Transcript		benign(0.037)	.	ENSP00000305302	8.24E-06	CCDS34130.1		A:0	1	
CSMD3	0	LGGM	GRCh37	8	113237104	113237104	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	111	11	.	.	ENST00000297405.5:c.11020C>T	p.Gln3674Ter	p.Q3674*	ENST00000297405	NM_198123.1	3674	Caa/Taa	0	1	1	UPI00001E0584	0	NA	ENST00000297405		ENSG00000164796	19291		122	0		HGNC	p.Q3505X		CSMD3		SNV							ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113237104,G,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44		Q/*		A	NA	11265/13212		NA					YES	CSMD3,stop_gained,p.Gln3674Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Gln3634Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Gln3604Ter,ENST00000352409,;CSMD3,stop_gained,p.Gln3505Ter,ENST00000455883,NM_052900.2;CSMD3,stop_gained,p.Gln2944Ter,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;							HIGH	11020/11124	Q3674*	CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
GAS2L2	0	LGGM	GRCh37	17	34072505	34072505	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	94	11	.	.	ENST00000254466.6:c.2011G>T	p.Glu671Ter	p.E671*	ENST00000254466	NM_139285.3	671	Gaa/Taa	0	1	1	UPI0000061E50	0	NA	ENST00000254466		ENSG00000132139	24846		105	0		HGNC	p.E671X		GAS2L2		SNV							ENST00000254466	protein_coding	getma.org/?cm=var&var=hg19,17,34072505,C,A&fts=all		hmmpanther:PTHR11915		E/*		A	NA	2039/3014		NA					YES	GAS2L2,stop_gained,p.Glu671Ter,ENST00000254466,NM_139285.3;GAS2L2,stop_gained,p.Glu655Ter,ENST00000587565,;RASL10B,downstream_gene_variant,,ENST00000268864,NM_033315.3;							HIGH	2011/2643	E671*	GA2L2_HUMAN			Transcript			.	ENSP00000254466		CCDS11298.1			1	
SERPINB4	0	LGGM	GRCh37	18	61305105	61305105	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	44	12	.	.	ENST00000341074.5:c.1021G>A	p.Val341Met	p.V341M	ENST00000341074	NM_002974.2	341	Gtg/Atg	0	1	1	UPI0000038A1A	0	getma.org/pdb.php?prot=SPB4_HUMAN&from=6&to=390&var=V341M	ENST00000341074		ENSG00000206073	10570		56	0.435		HGNC	p.V341M		SERPINB4		SNV							ENST00000341074	protein_coding	getma.org/?cm=var&var=hg19,18,61305105,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		V/M		T	neutral	1137/1749		getma.org/?cm=msa&ty=f&p=SPB4_HUMAN&rb=6&re=390&var=V341M	deleterious(0)				YES	SERPINB4,missense_variant,p.Val341Met,ENST00000341074,NM_002974.2;SERPINB4,missense_variant,p.Val289Met,ENST00000356424,;SERPINB4,missense_variant,p.Val322Met,ENST00000413673,;SERPINB4,downstream_gene_variant,,ENST00000436264,;							MODERATE	1021/1173	V341M	SPB4_HUMAN			Transcript		benign(0.027)	.	ENSP00000343445		CCDS11986.1			1	
B4GALNT1	0	LGGM	GRCh37	12	58024847	58024847	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	84	12	.	.	ENST00000341156.4:c.406C>T	p.Leu136=	p.L136=	ENST00000341156	NM_001478.4	136	Ctg/Ttg	0	1	1	UPI0000126DD5	0		ENST00000341156		ENSG00000135454	4117		96			HGNC	p.L136L		B4GALNT1		SNV			1				ENST00000552798	protein_coding			hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474		L		A		991/3036				F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN			YES	B4GALNT1,synonymous_variant,p.=,ENST00000341156,NM_001478.4;B4GALNT1,synonymous_variant,p.=,ENST00000550764,NM_001276469.1;B4GALNT1,synonymous_variant,p.=,ENST00000418555,NM_001276468.1;B4GALNT1,synonymous_variant,p.=,ENST00000552350,;B4GALNT1,synonymous_variant,p.=,ENST00000449184,;B4GALNT1,synonymous_variant,p.=,ENST00000548888,;SLC26A10,downstream_gene_variant,,ENST00000379218,;SLC26A10,downstream_gene_variant,,ENST00000320442,NM_133489.2;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,synonymous_variant,p.=,ENST00000552798,;B4GALNT1,synonymous_variant,p.=,ENST00000549391,;B4GALNT1,3_prime_UTR_variant,,ENST00000548487,;B4GALNT1,3_prime_UTR_variant,,ENST00000552219,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,upstream_gene_variant,,ENST00000552468,;SLC26A10,downstream_gene_variant,,ENST00000474359,;SLC26A10,downstream_gene_variant,,ENST00000440686,;SLC26A10,downstream_gene_variant,,ENST00000487816,;B4GALNT1,downstream_gene_variant,,ENST00000551925,;							LOW	406/1602		B4GN1_HUMAN			Transcript			.	ENSP00000341562		CCDS8950.1			1	
MYO18B	0	LGGM	GRCh37	22	26306923	26306923	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	104	13	.	.	ENST00000335473.7:c.5270T>C	p.Leu1757Pro	p.L1757P	ENST00000335473	NM_032608.5	1757	cTg/cCg	0	1		UPI0000207402	0	NA	ENST00000536101		ENSG00000133454	18150		117	2.215		HGNC	p.L1757P		MYO18B		SNV							ENST00000335473	protein_coding	getma.org/?cm=var&var=hg19,22,26306923,T,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254		L/P		C	medium	5529/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=1462&re=1780&var=L1757P	deleterious(0)	Q8N903_HUMAN				MYO18B,missense_variant,p.Leu1757Pro,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Leu1758Pro,ENST00000407587,;MYO18B,missense_variant,p.Leu1757Pro,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	5270/7704	L1757P				Transcript		probably_damaging(0.997)	.	ENSP00000441229		CCDS54507.1			1	
PSG9	0	LGGM	GRCh37	19	43772123	43772123	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	199	14	.	.	ENST00000270077.3:c.243G>A	p.Ser81=	p.S81=	ENST00000270077	NM_002784.3	81	tcG/tcA	0	1	1	UPI00001327A5	0		ENST00000270077		ENSG00000183668	9526	0.000345	213			HGNC	p.S81S	rs376642216,COSM172042	PSG9	0.000908	SNV	T:0			9.61E-05		0,1	ENST00000596730	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126		S	T:0.0005	T		340/1705	0.000539			Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN			YES	PSG9,synonymous_variant,p.=,ENST00000244293,;PSG9,synonymous_variant,p.=,ENST00000596730,;PSG9,synonymous_variant,p.=,ENST00000418820,;PSG9,synonymous_variant,p.=,ENST00000270077,NM_002784.3;PSG9,synonymous_variant,p.=,ENST00000593948,;PSG9,synonymous_variant,p.=,ENST00000443718,;PSG9,synonymous_variant,p.=,ENST00000291752,;	0.000231				0,1		LOW	243/1281		PSG9_HUMAN	0.000605		Transcript			common_variant	ENSP00000270077	0.000511	CCDS12618.1			1	
DOK6	0	LGGM	GRCh37	18	67406327	67406327	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	83	14	.	.	ENST00000382713.5:c.726A>T	p.Glu242Asp	p.E242D	ENST00000382713	NM_152721.5	242	gaA/gaT	0	1	1	UPI000035EC7C	0	NA	ENST00000382713		ENSG00000206052	28301		97	1.04		HGNC	p.E242D		DOK6		SNV							ENST00000382713	protein_coding	getma.org/?cm=var&var=hg19,18,67406327,A,T&fts=all		hmmpanther:PTHR21258:SF43,hmmpanther:PTHR21258,Superfamily_domains:SSF50729		E/D		T	low	916/8890		getma.org/?cm=msa&ty=f&p=DOK6_HUMAN&rb=233&re=331&var=E242D	tolerated(0.08)				YES	DOK6,missense_variant,p.Glu242Asp,ENST00000382713,NM_152721.5;DOK6,missense_variant,p.Glu146Asp,ENST00000582992,;DOK6,non_coding_transcript_exon_variant,,ENST00000577609,;DOK6,downstream_gene_variant,,ENST00000584435,;							MODERATE	726/996	E242D	DOK6_HUMAN			Transcript		benign(0.238)	.	ENSP00000372160		CCDS32841.1			1	
HIST1H2BH	0	LGGM	GRCh37	6	26251905	26251905	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	88	15	.	.	ENST00000356350.2:c.27C>T	p.Pro9=	p.P9=	ENST00000356350	NM_003524.2	9	ccC/ccT	0	1	1	UPI0000001BD4	0		ENST00000356350		ENSG00000197459	4755		103			HGNC	p.P9P	rs760176099	HIST1H2BH		SNV							ENST00000356350	protein_coding			Gene3D:1.10.20.10,hmmpanther:PTHR23428,Low_complexity_(Seg):seg,Superfamily_domains:SSF47113		P		T		27/425	1.50E-05						YES	HIST1H2BH,synonymous_variant,p.=,ENST00000356350,NM_003524.2;HIST1H3F,upstream_gene_variant,,ENST00000446824,NM_021018.2;HIST1H4G,upstream_gene_variant,,ENST00000244537,NM_003547.2;							LOW	27/381		H2B1H_HUMAN			Transcript			.	ENSP00000348706	8.24E-06	CCDS4601.1			1	
MAP1B	0	LGGM	GRCh37	5	71494771	71494771	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	53	15	.	.	ENST00000296755.7:c.5589G>A	p.Lys1863=	p.K1863=	ENST00000296755	NM_005909.3	1863	aaG/aaA	0	1	1	UPI000013E382	0		ENST00000296755		ENSG00000131711	6836		68			HGNC	p.K1863K		MAP1B		SNV							ENST00000296755	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		K		A		5887/12034				D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							LOW	5589/7407		MAP1B_HUMAN			Transcript			.	ENSP00000296755		CCDS4012.1			1	
ZBTB16	0	LGGM	GRCh37	11	113935008	113935008	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	23	15	.	.	ENST00000335953.4:c.986A>C	p.Lys329Thr	p.K329T	ENST00000335953	NM_006006.4	329	aAg/aCg	0	1	1	UPI000000018E	0	NA	ENST00000335953		ENSG00000109906	12930		38	0.695		HGNC	p.K329T		ZBTB16		SNV			1				ENST00000335953	protein_coding	getma.org/?cm=var&var=hg19,11,113935008,A,C&fts=all		hmmpanther:PTHR11389:SF425,hmmpanther:PTHR11389		K/T		C	neutral	1366/2523		getma.org/?cm=msa&ty=f&p=ZBT16_HUMAN&rb=249&re=417&var=K329T	tolerated(0.08)	Q71UL7_HUMAN,Q71UL6_HUMAN,Q71UL5_HUMAN,F5H6C3_HUMAN,F5H5Y7_HUMAN			YES	ZBTB16,missense_variant,p.Lys329Thr,ENST00000335953,NM_006006.4;ZBTB16,missense_variant,p.Lys329Thr,ENST00000392996,NM_001018011.1;ZBTB16,downstream_gene_variant,,ENST00000544220,;ZBTB16,downstream_gene_variant,,ENST00000535700,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000541602,;ZBTB16,upstream_gene_variant,,ENST00000539918,;							MODERATE	986/2022	K329T	ZBT16_HUMAN			Transcript		benign(0.157)	.	ENSP00000338157		CCDS8367.1			1	
DGCR14	0	LGGM	GRCh37	22	19130308	19130308	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	119	16	.	.	ENST00000252137.6:c.235C>A	p.Arg79=	p.R79=	ENST00000252137	NM_022719.2	79	Cgg/Agg	0	1	1	UPI0000129227	0		ENST00000252137		ENSG00000100056	16817		135			HGNC	p.R79R		DGCR14		SNV							ENST00000434568	protein_coding			Pfam_domain:PF09751,hmmpanther:PTHR12940		R		T		279/5392							YES	DGCR14,synonymous_variant,p.=,ENST00000252137,NM_022719.2;DGCR14,synonymous_variant,p.=,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;DGCR14,downstream_gene_variant,,ENST00000469466,;							LOW	235/1431		DGC14_HUMAN			Transcript			.	ENSP00000252137		CCDS13756.1			1	
BPTF	0	LGGM	GRCh37	17	65908956	65908956	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	39	16	.	.	ENST00000306378.6:c.4956G>A	p.Gln1652=	p.Q1652=	ENST00000306378	NM_182641.3	1652	caG/caA	0	1		UPI0001838807	0		ENST00000321892		ENSG00000171634	3581		55			HGNC	p.Q1778Q		BPTF		SNV							ENST00000335221	protein_coding			hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		Q		A		5395/11292								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,;							LOW	5334/9141		BPTF_HUMAN			Transcript			.	ENSP00000315454					1	
PDZRN4	0	LGGM	GRCh37	12	41903652	41903652	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	57	16	.	.	ENST00000402685.2:c.1140G>A	p.Glu380=	p.E380=	ENST00000402685	NM_001164595.1	380	gaG/gaA	0	1	1	UPI0000D621D0	0		ENST00000402685		ENSG00000165966	30552		73			HGNC	p.E122E		PDZRN4		SNV							ENST00000539469	protein_coding			hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545		E		A		1148/3347				B3KT02_HUMAN			YES	PDZRN4,synonymous_variant,p.=,ENST00000298919,;PDZRN4,synonymous_variant,p.=,ENST00000402685,NM_001164595.1;PDZRN4,synonymous_variant,p.=,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							LOW	1140/3111		PZRN4_HUMAN			Transcript			.	ENSP00000384197		CCDS53777.1			1	
FLG	0	LGGM	GRCh37	1	152276426	152276426	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	82	16	.	.	ENST00000368799.1:c.10936C>T	p.Gln3646Ter	p.Q3646*	ENST00000368799	NM_002016.1	3646	Caa/Taa	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		98	0		HGNC	p.Q3646X	rs765567868	FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152276426,G,A&fts=all		Pfam_domain:PF03516		Q/*		A	NA	10972/12747		NA		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,stop_gained,p.Gln3646Ter,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	0.000116						HIGH	10936/12186	Q3646*	FILA_HUMAN			Transcript			.	ENSP00000357789	8.27E-06	CCDS30860.1			1	
GRIP1	0	LGGM	GRCh37	12	66765605	66765605	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	58	16	.	.	ENST00000398016.3:c.2725C>T	p.Arg909Trp	p.R909W	ENST00000398016	NM_021150.3	909	Cgg/Tgg	0	1		UPI00001D798A	0	NA	ENST00000359742		ENSG00000155974	18708		74	1.67		HGNC	p.R909W	rs761580569	GRIP1		SNV			1				ENST00000398016	protein_coding	getma.org/?cm=var&var=hg19,12,66765605,G,A&fts=all		hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316		R/W		A	low	3122/5216	3.00E-05	getma.org/?cm=msa&ty=f&p=GRIP1_HUMAN&rb=953&re=1003&var=R961W	deleterious(0)	F5H5I0_HUMAN,F5H424_HUMAN				GRIP1,missense_variant,p.Arg961Trp,ENST00000359742,;GRIP1,missense_variant,p.Arg946Trp,ENST00000286445,;GRIP1,missense_variant,p.Arg909Trp,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Arg894Trp,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Arg761Trp,ENST00000538164,;GRIP1,missense_variant,p.Arg853Trp,ENST00000540433,;GRIP1,missense_variant,p.Arg786Trp,ENST00000536215,;GRIP1,intron_variant,,ENST00000540854,;GRIP1,non_coding_transcript_exon_variant,,ENST00000535323,;GRIP1,downstream_gene_variant,,ENST00000541299,;							MODERATE	2881/3387	R961W	GRIP1_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000352780	1.65E-05				1	
SURF6	0	LGGM	GRCh37	9	136199046	136199046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	51	17	.	.	ENST00000372022.4:c.745C>T	p.Arg249Trp	p.R249W	ENST00000372022	NM_006753.5	249	Cgg/Tgg	0	1	1	UPI000013623E	0	NA	ENST00000372022		ENSG00000148296	11478		68	2.275		HGNC	p.R249W		SURF6		SNV							ENST00000372022	protein_coding	getma.org/?cm=var&var=hg19,9,136199046,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14369:SF0,hmmpanther:PTHR14369,Pfam_domain:PF04935		R/W		A	medium	1011/2505		getma.org/?cm=msa&ty=f&p=SURF6_HUMAN&rb=135&re=351&var=R249W	deleterious(0)				YES	SURF6,missense_variant,p.Arg249Trp,ENST00000372022,NM_006753.5,NM_001278942.1;SURF6,non_coding_transcript_exon_variant,,ENST00000468290,;							MODERATE	745/1086	R249W	SURF6_HUMAN			Transcript		benign(0.205)	.	ENSP00000361092		CCDS6962.1			1	
WDFY3	0	LGGM	GRCh37	4	85715716	85715716	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	62	17	.	.	ENST00000295888.4:c.3443G>A	p.Arg1148Gln	p.R1148Q	ENST00000295888	NM_014991.4	1148	cGa/cAa	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		79	1.67		HGNC	p.R1148Q	rs762005418,COSM1431481	WDFY3		SNV						0,1	ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85715716,C,T&fts=all		Superfamily_domains:SSF49899,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		R/Q		T	low	3851/14247	3.02E-05	getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=1001&re=1200&var=R1148Q	deleterious(0.02)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Arg1148Gln,ENST00000322366,;WDFY3,missense_variant,p.Arg1148Gln,ENST00000295888,NM_014991.4;					0,1		MODERATE	3443/10581	R1148Q	WDFY3_HUMAN			Transcript		benign(0.148)	.	ENSP00000295888	1.65E-05	CCDS3609.1			1	
TBK1	0	LGGM	GRCh37	12	64879750	64879750	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	102	17	.	.	ENST00000331710.5:c.1293C>T	p.Thr431=	p.T431=	ENST00000331710	NM_013254.3	431	acC/acT	0	1	1	UPI0000035B47	0		ENST00000331710		ENSG00000183735	11584	8.64E-05	119			HGNC	p.T431T	rs780669170	TBK1		SNV			1				ENST00000331710	protein_coding			hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF14		T		T		1632/3256				F5H206_HUMAN,F5H1A3_HUMAN,F5GZI4_HUMAN,B4E164_HUMAN			YES	TBK1,synonymous_variant,p.=,ENST00000331710,NM_013254.3;TBK1,non_coding_transcript_exon_variant,,ENST00000536906,;TBK1,downstream_gene_variant,,ENST00000545025,;							LOW	1293/2190		TBK1_HUMAN			Transcript			.	ENSP00000329967	8.24E-06	CCDS8968.1			1	
DISC1	0	LGGM	GRCh37	1	232144615	232144615	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	124	18	.	.	ENST00000366637.3:c.123A>C	p.Glu41Asp	p.E41D	ENST00000366637	NM_001012957.1	41	gaA/gaC	0	1		UPI0000458AE0	0		ENST00000439617		ENSG00000162946	2888		142			HGNC	p.E709D		DISC1		SNV			1				ENST00000439617	protein_coding			hmmpanther:PTHR14332,hmmpanther:PTHR14332:SF2		E/D		C		2180/7059			deleterious(0.01)	C4P0C8_HUMAN,B1AM64_HUMAN				DISC1,missense_variant,p.Glu709Asp,ENST00000439617,NM_001164540.1,NM_018662.2,NM_001164537.1;DISC1,missense_variant,p.Glu41Asp,ENST00000366637,NM_001012957.1;DISC1,missense_variant,p.Lys689Thr,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,;							MODERATE	2127/2565					Transcript		probably_damaging(0.996)	.	ENSP00000403888					1	
CUBN	0	LGGM	GRCh37	10	17032399	17032399	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	65	18	.	.	ENST00000377833.4:c.4284C>T	p.Ser1428=	p.S1428=	ENST00000377833	NM_001081.3	1428	agC/agT	0	1	1	UPI00001AE8F4	0		ENST00000377833		ENSG00000107611	2548		83			HGNC	p.S1428S		CUBN		SNV			1				ENST00000377833	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854		S		A		4350/11949				B3KQA6_HUMAN			YES	CUBN,synonymous_variant,p.=,ENST00000377833,NM_001081.3;							LOW	4284/10872		CUBN_HUMAN			Transcript			.	ENSP00000367064		CCDS7113.1			1	
ZNF44	0	LGGM	GRCh37	19	12355426	12355426	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	27	18	.	.	ENST00000600003.1:c.398C>G	p.Ser133Cys	p.S133C	ENST00000600003		133	tCt/tGt	0	1	1	UPI0001662ABF	0		ENST00000426973		ENSG00000197857	13110		45		2666	HGNC	p.S133C		ZNF44		SNV							ENST00000600003	protein_coding							C		-/1623				I6L4V1_HUMAN				ZNF44,downstream_gene_variant,,ENST00000426973,;ZNF44,missense_variant,p.Ser133Cys,ENST00000600003,;ZNF44,downstream_gene_variant,,ENST00000393337,;ZNF44,downstream_gene_variant,,ENST00000397742,;							MODIFIER	-/1623					Transcript			.	ENSP00000395745					1	
NSUN2	0	LGGM	GRCh37	5	6616954	6616954	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	44	19	.	.	ENST00000264670.6:c.907G>A	p.Ala303Thr	p.A303T	ENST00000264670	NM_017755.5	303	Gca/Aca	0	1	1	UPI000020BF2B	0	getma.org/pdb.php?prot=NSUN2_HUMAN&from=265&to=442&var=A303T	ENST00000264670		ENSG00000037474	25994		63	2.14		HGNC	p.A303T	rs769002890	NSUN2		SNV			1				ENST00000264670	protein_coding	getma.org/?cm=var&var=hg19,5,6616954,C,T&fts=all		PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF1,Pfam_domain:PF01189,Gene3D:3.40.50.150,Superfamily_domains:SSF53335		A/T		T	medium	1219/3303	1.50E-05	getma.org/?cm=msa&ty=f&p=NSUN2_HUMAN&rb=265&re=442&var=A303T	tolerated(0.1)	G3V1R4_HUMAN			YES	NSUN2,missense_variant,p.Ala303Thr,ENST00000264670,NM_017755.5;NSUN2,missense_variant,p.Ala67Thr,ENST00000539938,;NSUN2,missense_variant,p.Ala268Thr,ENST00000506139,NM_001193455.1;NSUN2,downstream_gene_variant,,ENST00000505264,;NSUN2,3_prime_UTR_variant,,ENST00000504374,;NSUN2,non_coding_transcript_exon_variant,,ENST00000505892,;							MODERATE	907/2304	A303T	NSUN2_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000264670	8.24E-06	CCDS3869.1			1	
MYO1A	0	LGGM	GRCh37	12	57440849	57440849	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	25	20	.	.	ENST00000442789.2:c.473G>T	p.Arg158Leu	p.R158L	ENST00000442789	NM_001256041.1	158	cGa/cTa	0	1		UPI000012FAC2	0	getma.org/pdb.php?prot=MYO1A_HUMAN&from=10&to=681&var=R158L	ENST00000300119		ENSG00000166866	7595		45	4.62		HGNC	p.R158L	rs774474574	MYO1A		SNV			1				ENST00000442789	protein_coding	getma.org/?cm=var&var=hg19,12,57440849,C,A&fts=all		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/L		A	high	724/3621	1.50E-05	getma.org/?cm=msa&ty=f&p=MYO1A_HUMAN&rb=10&re=681&var=R158L	deleterious(0)	Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN				MYO1A,missense_variant,p.Arg158Leu,ENST00000442789,NM_001256041.1;MYO1A,missense_variant,p.Arg158Leu,ENST00000300119,NM_005379.3;MYO1A,intron_variant,,ENST00000544473,;MYO1A,intron_variant,,ENST00000492945,;MYO1A,downstream_gene_variant,,ENST00000433964,;MYO1A,downstream_gene_variant,,ENST00000471791,;MYO1A,intron_variant,,ENST00000554234,;							MODERATE	473/3132	R158L	MYO1A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000300119	8.24E-06	CCDS8929.1			1	
NDST3	0	LGGM	GRCh37	4	118975265	118975265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	53	20	.	.	ENST00000296499.5:c.200C>A	p.Ala67Glu	p.A67E	ENST00000296499	NM_004784.2	67	gCa/gAa	0	1	1	UPI0000071C44	0	NA	ENST00000296499		ENSG00000164100	7682		73	0		HGNC	p.A67E		NDST3		SNV							ENST00000296499	protein_coding	getma.org/?cm=var&var=hg19,4,118975265,C,A&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15		A/E		A	neutral	603/5961		getma.org/?cm=msa&ty=f&p=NDST3_HUMAN&rb=19&re=506&var=A67E	tolerated(0.55)				YES	NDST3,missense_variant,p.Ala67Glu,ENST00000296499,NM_004784.2;NDST3,missense_variant,p.Ala67Glu,ENST00000433996,;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;							MODERATE	200/2622	A67E	NDST3_HUMAN			Transcript		benign(0.02)	.	ENSP00000296499		CCDS3708.1			1	
PTPRO	0	LGGM	GRCh37	12	15652420	15652420	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	60	20	.	.	ENST00000281171.4:c.553A>T	p.Met185Leu	p.M185L	ENST00000281171	NM_030667.2	185	Atg/Ttg	0	1	1	UPI000013DC62	0	NA	ENST00000281171		ENSG00000151490	9678		80	-0.345		HGNC	p.M185L		PTPRO		SNV			1				ENST00000281171	protein_coding	getma.org/?cm=var&var=hg19,12,15652420,A,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251		M/L		T	neutral	883/5301		getma.org/?cm=msa&ty=f&p=PTPRO_HUMAN&rb=142&re=211&var=M185L	tolerated_low_confidence(0.24)	B4DS16_HUMAN			YES	PTPRO,missense_variant,p.Met185Leu,ENST00000281171,NM_030667.2;PTPRO,missense_variant,p.Met185Leu,ENST00000348962,NM_002848.3;PTPRO,missense_variant,p.Met185Leu,ENST00000543886,;							MODERATE	553/3651	M185L	PTPRO_HUMAN			Transcript		benign(0)	.	ENSP00000281171		CCDS8675.1			1	
ADNP	0	LGGM	GRCh37	20	49510578	49510578	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	40	21	.	.	ENST00000396029.3:c.673C>T	p.Arg225Ter	p.R225*	ENST00000396029	NM_015339.2	225	Cga/Tga	0	1		UPI00000375B9	0	NA	ENST00000349014		ENSG00000101126	15766		61	0		HGNC	p.R225X	COSM1027977	ADNP		SNV			1			1	ENST00000396029	protein_coding	getma.org/?cm=var&var=hg19,20,49510578,G,A&fts=all		hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1,SMART_domains:SM00355		R/*		A	NA	970/5963		NA		E9PQK8_HUMAN				ADNP,stop_gained,p.Arg225Ter,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,stop_gained,p.Arg225Ter,ENST00000371602,;ADNP,stop_gained,p.Arg225Ter,ENST00000349014,NM_001282532.1;ADNP,stop_gained,p.Arg225Ter,ENST00000396032,NM_181442.1;ADNP,downstream_gene_variant,,ENST00000534467,;					1		HIGH	673/3309	R225*	ADNP_HUMAN			Transcript			.	ENSP00000342905		CCDS13433.1			1	
ELMOD1	0	LGGM	GRCh37	11	107535877	107535877	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	195	21	.	.	ENST00000265840.7:c.959C>T	p.Ala320Val	p.A320V	ENST00000265840	NM_018712.3	320	gCg/gTg	0	1	1	UPI000006DF30	0	NA	ENST00000265840		ENSG00000110675	25334		216	0		HGNC	p.A312V	rs761156731	ELMOD1		SNV				0.000102			ENST00000443271	protein_coding	getma.org/?cm=var&var=hg19,11,107535877,C,T&fts=all		hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF18		A/V		T	neutral	1224/2852		getma.org/?cm=msa&ty=f&p=ELMD1_HUMAN&rb=305&re=334&var=A320V	tolerated(0.65)	E9PLM8_HUMAN			YES	ELMOD1,missense_variant,p.Ala320Val,ENST00000265840,NM_018712.3;ELMOD1,missense_variant,p.Ala312Val,ENST00000443271,NM_001130037.1;ELMOD1,missense_variant,p.Ala314Val,ENST00000531234,;							MODERATE	959/1005	A320V	ELMD1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265840	8.26E-06	CCDS44723.1			1	
ASXL3	0	LGGM	GRCh37	18	31226276	31226276	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	54	22	.	.	ENST00000269197.5:c.314C>G	p.Thr105Arg	p.T105R	ENST00000269197	NM_030632.1	105	aCa/aGa	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		76	1.245		HGNC	p.T94R	rs775048629	ASXL3	0.000121	SNV			1	0.000102			ENST00000586327	protein_coding	getma.org/?cm=var&var=hg19,18,31226276,C,G&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		T/R		G	low	314/11344		getma.org/?cm=msa&ty=f&p=ASXL3_HUMAN&rb=1&re=200&var=T105R		K7EQY1_HUMAN			YES	ASXL3,missense_variant,p.Thr105Arg,ENST00000269197,NM_030632.1;ASXL3,missense_variant,p.Thr94Arg,ENST00000586327,;ASXL3,missense_variant,p.Thr102Arg,ENST00000590189,;ASXL3,missense_variant,p.Thr95Arg,ENST00000586596,;ASXL3,missense_variant,p.Thr106Arg,ENST00000592288,;ASXL3,3_prime_UTR_variant,,ENST00000592541,;ASXL3,3_prime_UTR_variant,,ENST00000585426,;ASXL3,3_prime_UTR_variant,,ENST00000593195,;ASXL3,3_prime_UTR_variant,,ENST00000588741,;ASXL3,3_prime_UTR_variant,,ENST00000590225,;ASXL3,3_prime_UTR_variant,,ENST00000590973,;ASXL3,intron_variant,,ENST00000593235,;							MODERATE	314/6747	T105R	ASXL3_HUMAN			Transcript		benign(0.358)	.	ENSP00000269197	2.48E-05	CCDS45847.1			1	
GOLGA4	0	LGGM	GRCh37	3	37323609	37323609	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	51	22	.	.	ENST00000356847.4:c.389A>G	p.Asp130Gly	p.D130G	ENST00000356847	NM_001172713.1	130	gAc/gGc	0	1		UPI000012B8DE	0	NA	ENST00000361924		ENSG00000144674	4427		73	1.59		HGNC	p.D130G		GOLGA4		SNV							ENST00000356847	protein_coding	getma.org/?cm=var&var=hg19,3,37323609,A,G&fts=all		hmmpanther:PTHR19327		D/G		G	low	697/7772		getma.org/?cm=msa&ty=f&p=GOGA4_HUMAN&rb=1&re=151&var=D108G		A8K3D5_HUMAN				GOLGA4,missense_variant,p.Asp108Gly,ENST00000361924,NM_002078.4;GOLGA4,missense_variant,p.Asp130Gly,ENST00000356847,NM_001172713.1;GOLGA4,missense_variant,p.Asp130Gly,ENST00000450863,;GOLGA4,missense_variant,p.Asp108Gly,ENST00000444882,;GOLGA4,intron_variant,,ENST00000429018,;GOLGA4,upstream_gene_variant,,ENST00000437131,;GOLGA4,downstream_gene_variant,,ENST00000431105,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000435830,;GOLGA4,non_coding_transcript_exon_variant,,ENST00000419177,;							MODERATE	323/6693	D108G	GOGA4_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000354486		CCDS2666.1			1	
EPX	0	LGGM	GRCh37	17	56274354	56274354	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	116	22	.	.	ENST00000225371.5:c.856C>T	p.Arg286Cys	p.R286C	ENST00000225371	NM_000502.4	286	Cgc/Tgc	0	1	1	UPI0000131629	0	getma.org/pdb.php?prot=PERE_HUMAN&from=145&to=689&var=R286C	ENST00000225371		ENSG00000121053	3423		138	4.335		HGNC	p.R286C	rs781542790	EPX	6.06E-05	SNV			1	0.000192			ENST00000225371	protein_coding	getma.org/?cm=var&var=hg19,17,56274354,C,T&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		R/C		T	high	966/2708	1.50E-05	getma.org/?cm=msa&ty=f&p=PERE_HUMAN&rb=145&re=689&var=R286C	deleterious(0.02)				YES	EPX,missense_variant,p.Arg286Cys,ENST00000225371,NM_000502.4;							MODERATE	856/2148	R286C	PERE_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000225371	3.29E-05	CCDS11602.1			1	
SOGA1	0	LGGM	GRCh37	20	35441179	35441179	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	51	22	.	.	ENST00000237536.4:c.2385G>A	p.Leu795=	p.L795=	ENST00000237536	NM_080627.2	795	ttG/ttA	0	1	1	UPI0000E5A319	0		ENST00000237536		ENSG00000149639	16111		73			HGNC	p.L398L		SOGA1		SNV							ENST00000456801	protein_coding			hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF1		L		T		2727/14371				I3L0I1_HUMAN,F2FB34_HUMAN			YES	SOGA1,synonymous_variant,p.=,ENST00000237536,NM_080627.2;SOGA1,synonymous_variant,p.=,ENST00000357779,;SOGA1,synonymous_variant,p.=,ENST00000456801,;SOGA1,synonymous_variant,p.=,ENST00000279034,NM_199181.2;SOGA1,synonymous_variant,p.=,ENST00000465671,;							LOW	2385/4986		SOGA1_HUMAN			Transcript			.	ENSP00000237536		CCDS54459.1			1	
ZNF841	0	LGGM	GRCh37	19	52569450	52569450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	196	23	.	.	ENST00000389534.4:c.1685G>A	p.Cys562Tyr	p.C562Y	ENST00000389534	NM_001136499.1	562	tGt/tAt	0	1		UPI000035E7BB	0	getma.org/pdb.php?prot=ZN841_HUMAN&from=439&to=464&var=C446Y	ENST00000426391		ENSG00000197608	27611		219	0.38		HGNC	p.C562Y	rs749799792	ZNF841		SNV							ENST00000594295	protein_coding	getma.org/?cm=var&var=hg19,19,52569450,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF75,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/Y		T	neutral	1889/3620	1.51E-05	getma.org/?cm=msa&ty=f&p=ZN841_HUMAN&rb=419&re=484&var=C446Y	deleterious(0)					ZNF841,missense_variant,p.Cys562Tyr,ENST00000389534,NM_001136499.1;ZNF841,missense_variant,p.Cys562Tyr,ENST00000594295,;ZNF841,missense_variant,p.Cys446Tyr,ENST00000426391,;ZNF841,intron_variant,,ENST00000601738,;ZNF841,intron_variant,,ENST00000359973,;ZNF432,upstream_gene_variant,,ENST00000600368,;CTC-471J1.2,upstream_gene_variant,,ENST00000569091,;ZNF432,intron_variant,,ENST00000598446,;ZNF841,downstream_gene_variant,,ENST00000595599,;							MODERATE	1337/2427	C446Y	ZN841_HUMAN			Transcript		benign(0.214)	.	ENSP00000415453	8.25E-06				1	
FERMT2	0	LGGM	GRCh37	14	53417286	53417286	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	59	23	.	.	ENST00000343279.4:c.1A>G	p.Met1?	p.M1?	ENST00000343279	NM_001134999.1	1	Atg/Gtg	0	1		UPI0000073CC9	0	http://getma.org/pdb.php?prot=FERM2_HUMAN&from=1&to=100&var=M1V	ENST00000341590		ENSG00000073712	15767		82	0		HGNC	p.M1V		FERMT2		SNV							ENST00000553373	protein_coding	getma.org/?cm=var&var=hg19,14,53417286,T,C&fts=all				M/V		C	NA	187/3338		http://getma.org/?cm=msa&ty=f&p=FERM2_HUMAN&rb=1&re=100&var=M1V	deleterious_low_confidence(0)	G3V3J0_HUMAN,G3V281_HUMAN				FERMT2,start_lost,p.Met1?,ENST00000395631,;FERMT2,start_lost,p.Met1?,ENST00000343279,NM_001134999.1;FERMT2,start_lost,p.Met1?,ENST00000341590,NM_006832.2;FERMT2,start_lost,p.Met1?,ENST00000399304,NM_001135000.1;FERMT2,start_lost,p.Met1?,ENST00000553373,;FERMT2,start_lost,p.Met1?,ENST00000554712,;FERMT2,start_lost,p.Met1?,ENST00000557562,;							HIGH	Jan-43	M1V	FERM2_HUMAN			Transcript		benign(0.354)	.	ENSP00000340391		CCDS9713.1			1	
MARCH6	0	LGGM	GRCh37	5	10403620	10403620	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	48	26	.	.	ENST00000274140.5:c.1299C>T	p.Phe433=	p.F433=	ENST00000274140	NM_005885.3	433	ttC/ttT	0	1	1	UPI00001B94D6	0		ENST00000274140		ENSG00000145495	30550		74			HGNC	p.F131F	rs763899548	MARCH6		SNV							ENST00000510792	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145		F		T		1431/9569	4.50E-05						YES	MARCH6,synonymous_variant,p.=,ENST00000274140,NM_005885.3;MARCH6,synonymous_variant,p.=,ENST00000449913,NM_001270660.1;MARCH6,synonymous_variant,p.=,ENST00000503788,NM_001270661.1;MARCH6,synonymous_variant,p.=,ENST00000510792,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,downstream_gene_variant,,ENST00000514961,;							LOW	1299/2733		MARH6_HUMAN			Transcript			.	ENSP00000274140	2.47E-05	CCDS34135.1			1	
PRUNE2	0	LGGM	GRCh37	9	79253164	79253164	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	142	26	.	.	ENST00000376718.3:c.8769C>T	p.Ala2923=	p.A2923=	ENST00000376718	NM_015225.2	2923	gcC/gcT	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		168			HGNC	p.A2923A	rs758270246	PRUNE2	0.000122	SNV							ENST00000376718	protein_coding			PROSITE_profiles:PS50191,hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF13716,SMART_domains:SM00516,Superfamily_domains:SSF52087		A		A		8893/12584							YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,synonymous_variant,p.=,ENST00000376717,;PRUNE2,synonymous_variant,p.=,ENST00000443509,;PRUNE2,synonymous_variant,p.=,ENST00000223609,;PRUNE2,synonymous_variant,p.=,ENST00000424866,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000466266,;PRUNE2,downstream_gene_variant,,ENST00000494975,;							LOW	8769/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908	1.66E-05	CCDS47982.1			1	
ATP7A	0	LGGM	GRCh37	X	77298881	77298881	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	34	27	.	.	ENST00000341514.6:c.4072A>G	p.Asn1358Asp	p.N1358D	ENST00000341514	NM_000052.5	1358	Aat/Gat	0	1	1	UPI000013E478	0	getma.org/pdb.php?prot=ATP7A_HUMAN&from=1314&to=1500&var=N1358D	ENST00000341514		ENSG00000165240	869		61	3.605		HGNC	p.N1280D		ATP7A		SNV			1				ENST00000343533	protein_coding	getma.org/?cm=var&var=hg19,X,77298881,A,G&fts=all		Superfamily_domains:SSF56784,Superfamily_domains:0049473,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01525,Gene3D:3.40.50.1000,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF211		N/D		G	high	4227/8483		getma.org/?cm=msa&ty=f&p=ATP7A_HUMAN&rb=1314&re=1500&var=N1358D	deleterious(0)				YES	ATP7A,missense_variant,p.Asn1358Asp,ENST00000341514,NM_000052.5;ATP7A,missense_variant,p.Asn1280Asp,ENST00000343533,;ATP7A,missense_variant,p.Asn361Asp,ENST00000350425,;							MODERATE	4072/4503	N1358D	ATP7A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345728		CCDS35339.1			1	
ATAD2B	0	LGGM	GRCh37	2	23980440	23980440	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	159	27	.	.	ENST00000238789.5:c.3926T>C	p.Leu1309Pro	p.L1309P	ENST00000238789	NM_001242338.1	1309	cTt/cCt	0	1	1	UPI00006C0425	0	NA	ENST00000238789		ENSG00000119778	29230		186	0		HGNC	p.L1309P		ATAD2B		SNV							ENST00000238789	protein_coding	getma.org/?cm=var&var=hg19,2,23980440,A,G&fts=all		hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069		L/P		G	neutral	4270/8103		getma.org/?cm=msa&ty=f&p=ATD2B_HUMAN&rb=1166&re=1354&var=L1309P	tolerated(0.28)	B3KWS5_HUMAN			YES	ATAD2B,missense_variant,p.Leu1309Pro,ENST00000238789,NM_001242338.1,NM_017552.2;ATAD2B,missense_variant,p.Leu585Pro,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;ATAD2B,upstream_gene_variant,,ENST00000486610,;							MODERATE	3926/4377	L1309P	ATD2B_HUMAN			Transcript		benign(0.001)	.	ENSP00000238789		CCDS46227.1			1	
FNIP1	0	LGGM	GRCh37	5	131008500	131008500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	45	27	.	.	ENST00000510461.1:c.1637C>A	p.Ser546Tyr	p.S546Y	ENST00000510461	NM_133372.2	546	tCt/tAt	0	1	1	UPI00001AEE81	0	NA	ENST00000510461		ENSG00000217128	29418		72	2.72		HGNC	p.S501Y		FNIP1		SNV							ENST00000307954	protein_coding	getma.org/?cm=var&var=hg19,5,131008500,G,T&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14637		S/Y		T	medium	1733/3845		getma.org/?cm=msa&ty=f&p=FNIP1_HUMAN&rb=1&re=567&var=S546Y	deleterious(0)	B3KX44_HUMAN			YES	FNIP1,missense_variant,p.Ser518Tyr,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Ser501Tyr,ENST00000307954,;FNIP1,missense_variant,p.Ser546Tyr,ENST00000510461,NM_133372.2;CTC-432M15.3,intron_variant,,ENST00000514667,;FNIP1,downstream_gene_variant,,ENST00000511848,;							MODERATE	1637/3501	S546Y	FNIP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000421985		CCDS34227.1			1	
C5orf42	0	LGGM	GRCh37	5	37196072	37196072	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	51	28	.	.	ENST00000425232.2:c.3699A>C	p.Ser1233=	p.S1233=	ENST00000425232	NM_023073.3	1233	tcA/tcC	0	1	1	UPI0001AAB3EA	0		ENST00000425232		ENSG00000197603	25801		79			HGNC	p.S114S		C5orf42		SNV			1				ENST00000274258	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		S		G		3930/11199							YES	C5orf42,synonymous_variant,p.=,ENST00000274258,;C5orf42,synonymous_variant,p.=,ENST00000425232,NM_023073.3;C5orf42,synonymous_variant,p.=,ENST00000508244,;C5orf42,synonymous_variant,p.=,ENST00000514429,;C5orf42,synonymous_variant,p.=,ENST00000509849,;							LOW	3699/9594		CE042_HUMAN			Transcript			.	ENSP00000389014		CCDS34146.2			1	
RNF220	0	LGGM	GRCh37	1	44878093	44878093	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	104	29	.	.	ENST00000355387.2:c.324A>G	p.Pro108=	p.P108=	ENST00000355387		108	ccA/ccG	0	1	1	UPI000035895E	0		ENST00000355387		ENSG00000187147	25552		133			HGNC	p.P108P		RNF220		SNV							ENST00000372247	protein_coding			hmmpanther:PTHR13459		P		G		774/3099				D3DPZ1_HUMAN			YES	RNF220,synonymous_variant,p.=,ENST00000355387,;RNF220,synonymous_variant,p.=,ENST00000361799,NM_018150.2;RNF220,synonymous_variant,p.=,ENST00000372247,;RNF220,upstream_gene_variant,,ENST00000470498,;RNF220,downstream_gene_variant,,ENST00000487332,;							LOW	324/1701		RN220_HUMAN			Transcript			.	ENSP00000347548		CCDS510.1			1	
KIAA1432	0	LGGM	GRCh37	9	5763787	5763787	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	75	32	.	.	ENST00000414202.2:c.2760T>C	p.Val920=	p.V920=	ENST00000414202	NM_001206557.1	920	gtT/gtC	0	1	1	UPI00002110DE	0		ENST00000414202		ENSG00000107036	17686		107			HGNC	p.V920V		KIAA1432		SNV							ENST00000251879	protein_coding			hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Pfam_domain:PF07064		V		C		2951/6774							YES	KIAA1432,synonymous_variant,p.=,ENST00000414202,NM_001206557.1,NM_020829.3;KIAA1432,synonymous_variant,p.=,ENST00000418622,;KIAA1432,synonymous_variant,p.=,ENST00000251879,NM_001135920.2;KIAA1432,synonymous_variant,p.=,ENST00000545641,;KIAA1432,synonymous_variant,p.=,ENST00000449720,;KIAA1432,synonymous_variant,p.=,ENST00000381532,;KIAA1432,synonymous_variant,p.=,ENST00000545243,;KIAA1432,non_coding_transcript_exon_variant,,ENST00000276898,;ERMP1,downstream_gene_variant,,ENST00000462592,;							LOW	2760/4272		RIC1_HUMAN			Transcript			.	ENSP00000416696		CCDS34982.2			1	
PRKCE	0	LGGM	GRCh37	2	46313408	46313408	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	28	33	.	.	ENST00000306156.3:c.1499G>A	p.Arg500His	p.R500H	ENST00000306156	NM_005400.2	500	cGc/cAc	0	1	1	UPI000012DF6B	0	getma.org/pdb.php?prot=KPCE_HUMAN&from=408&to=668&var=R500H	ENST00000306156		ENSG00000171132	9401		61	1.875		HGNC	p.R500H	rs748930507	PRKCE		SNV							ENST00000306156	protein_coding	getma.org/?cm=var&var=hg19,2,46313408,G,A&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF501106,PIRSF_domain:PIRSF000551,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24357:SF52,hmmpanther:PTHR24357,PROSITE_profiles:PS50011		R/H		A	low	1826/5650	1.54E-05	getma.org/?cm=msa&ty=f&p=KPCE_HUMAN&rb=408&re=668&var=R500H	deleterious(0.01)	Q53RT0_HUMAN,L7RTI5_HUMAN,C9JR22_HUMAN			YES	PRKCE,missense_variant,p.Arg500His,ENST00000306156,NM_005400.2;PRKCE,non_coding_transcript_exon_variant,,ENST00000469753,;PRKCE,non_coding_transcript_exon_variant,,ENST00000480633,;							MODERATE	1499/2214	R500H	KPCE_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000306124	8.43E-06	CCDS1824.1			1	
ADD1	0	LGGM	GRCh37	4	2909496	2909496	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	61	34	.	.	ENST00000264758.7:c.1533T>C	p.Thr511=	p.T511=	ENST00000264758	NM_014189.3	511	acT/acC	0	1		UPI0000125501	0		ENST00000398129		ENSG00000087274	243		95			HGNC	p.T480T		ADD1		SNV							ENST00000513328	protein_coding			hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF4		T		C		1460/3787				Q4TT76_HUMAN,D6RAH3_HUMAN				ADD1,synonymous_variant,p.=,ENST00000355842,NM_001286645.1;ADD1,synonymous_variant,p.=,ENST00000398125,NM_176801.2,NM_014190.3;ADD1,synonymous_variant,p.=,ENST00000264758,NM_014189.3;ADD1,synonymous_variant,p.=,ENST00000446856,NM_001119.4;ADD1,synonymous_variant,p.=,ENST00000398129,;ADD1,synonymous_variant,p.=,ENST00000503455,;ADD1,synonymous_variant,p.=,ENST00000513328,;ADD1,synonymous_variant,p.=,ENST00000398123,;ADD1,synonymous_variant,p.=,ENST00000514940,;ADD1,upstream_gene_variant,,ENST00000536424,;ADD1,non_coding_transcript_exon_variant,,ENST00000513762,;ADD1,non_coding_transcript_exon_variant,,ENST00000541051,;ADD1,non_coding_transcript_exon_variant,,ENST00000536078,;ADD1,downstream_gene_variant,,ENST00000506157,;ADD1,downstream_gene_variant,,ENST00000503169,;							LOW	1440/2214		ADDA_HUMAN			Transcript			.	ENSP00000381197		CCDS43205.1			1	
NCOA1	0	LGGM	GRCh37	2	24990977	24990977	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	39	39	.	.	ENST00000406961.1:c.4156-113G>A		*1386*	ENST00000406961				0	1		UPI000006E1F7	0		ENST00000348332		ENSG00000084676	7668		78			HGNC	p.V1244V		NCOA1		SNV							ENST00000407230	protein_coding							A		-/6895								NCOA1,synonymous_variant,p.=,ENST00000405141,;NCOA1,synonymous_variant,p.=,ENST00000288599,NM_147223.2;NCOA1,synonymous_variant,p.=,ENST00000407230,;NCOA1,synonymous_variant,p.=,ENST00000538539,;NCOA1,intron_variant,,ENST00000406961,;NCOA1,intron_variant,,ENST00000348332,NM_147233.2,NM_003743.4;NCOA1,intron_variant,,ENST00000395856,;NCOA1,non_coding_transcript_exon_variant,,ENST00000493773,;							MODIFIER	-/4326		NCOA1_HUMAN			Transcript			.	ENSP00000320940		CCDS1712.1			1	
PEX1	0	LGGM	GRCh37	7	92120625	92120625	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072820	H072820N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	60	43	.	.	ENST00000248633.4:c.3399T>C	p.Ser1133=	p.S1133=	ENST00000248633	NM_000466.2	1133	tcT/tcC	0	1	1	UPI0000001C39	0		ENST00000248633		ENSG00000127980	8850		103			HGNC	p.S811S		PEX1		SNV			1				ENST00000438045	protein_coding			hmmpanther:PTHR23077:SF12,hmmpanther:PTHR23077		S		G		3495/4385				Q96S70_HUMAN,Q96S69_HUMAN,B4DER6_HUMAN			YES	PEX1,synonymous_variant,p.=,ENST00000248633,NM_000466.2;PEX1,synonymous_variant,p.=,ENST00000428214,NM_001282677.1;PEX1,synonymous_variant,p.=,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,;							LOW	3399/3852		PEX1_HUMAN			Transcript			.	ENSP00000248633		CCDS5627.1			1	
POFUT2	0	LGGM	GRCh37	21	46687610	46687610	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	142	47	.	.	ENST00000349485.5:c.1031A>C	p.Lys344Thr	p.K344T	ENST00000349485	NM_133635.4	344	aAg/aCg	0	1	1	UPI000013E77F	0	NA	ENST00000349485		ENSG00000186866	14683		189	1.895		HGNC	p.K344T		POFUT2		SNV							ENST00000349485	protein_coding	getma.org/?cm=var&var=hg19,21,46687610,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13398,Pfam_domain:PF10250		K/T		G	low	1058/2871		getma.org/?cm=msa&ty=f&p=OFUT2_HUMAN&rb=46&re=411&var=K344T	tolerated(0.27)	B4DNV6_HUMAN			YES	POFUT2,missense_variant,p.Lys344Thr,ENST00000331343,NM_015227.4;POFUT2,missense_variant,p.Lys344Thr,ENST00000349485,NM_133635.4;POFUT2,downstream_gene_variant,,ENST00000451615,;POFUT2,non_coding_transcript_exon_variant,,ENST00000471540,;POFUT2,non_coding_transcript_exon_variant,,ENST00000460932,;POFUT2,non_coding_transcript_exon_variant,,ENST00000463917,;POFUT2,downstream_gene_variant,,ENST00000493524,;POFUT2,downstream_gene_variant,,ENST00000468360,;POFUT2,upstream_gene_variant,,ENST00000485190,;POFUT2,missense_variant,p.Lys344Thr,ENST00000334538,;							MODERATE	1031/1290	K344T	OFUT2_HUMAN			Transcript		benign(0.02)	.	ENSP00000339613		CCDS13719.1			1	
FMO5	0	LGGM	GRCh37	1	146672885	146672885	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072820	H072820N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	38	50	.	.	ENST00000254090.4:c.1032A>C	p.Lys344Asn	p.K344N	ENST00000254090	NM_001461.3	344	aaA/aaC	0	1	1	UPI000013CE15	0	getma.org/pdb.php?prot=FMO5_HUMAN&from=3&to=533&var=K344N	ENST00000254090		ENSG00000131781	3773		88	1.73		HGNC	p.K344N		FMO5		SNV							ENST00000254090	protein_coding	getma.org/?cm=var&var=hg19,1,146672885,T,G&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR01125,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF48,Superfamily_domains:SSF51905		K/N		G	low	1421/2632		getma.org/?cm=msa&ty=f&p=FMO5_HUMAN&rb=3&re=533&var=K344N	deleterious(0.04)	E9PQ84_HUMAN,E9PP51_HUMAN			YES	FMO5,missense_variant,p.Lys344Asn,ENST00000254090,NM_001461.3;FMO5,missense_variant,p.Lys344Asn,ENST00000441068,NM_001144829.2;FMO5,intron_variant,,ENST00000369272,NM_001144830.2;RP11-337C18.8,intron_variant,,ENST00000607149,;RP11-337C18.8,intron_variant,,ENST00000606757,;RP11-337C18.10,intron_variant,,ENST00000606856,;FMO5,3_prime_UTR_variant,,ENST00000527849,;CCT8P1,downstream_gene_variant,,ENST00000413611,;							MODERATE	1032/1602	K344N	FMO5_HUMAN			Transcript		benign(0.049)	.	ENSP00000254090		CCDS926.1			1	
DOPEY1	0	LGGM	GRCh37	6	83834453	83834453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072820	H072820N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	99	51	.	.	ENST00000349129.2:c.1370G>A	p.Gly457Glu	p.G457E	ENST00000349129	NM_015018.3	457	gGa/gAa	0	1	1	UPI00001C1574	0	NA	ENST00000349129		ENSG00000083097	21194		150	1.59		HGNC	p.G457E		DOPEY1		SNV							ENST00000349129	protein_coding	getma.org/?cm=var&var=hg19,6,83834453,G,A&fts=all		hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		G/E		A	low	1630/8210		getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=306&re=505&var=G457E	tolerated(0.26)				YES	DOPEY1,missense_variant,p.Gly457Glu,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Gly448Glu,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Gly448Glu,ENST00000237163,;DOPEY1,missense_variant,p.Gly51Glu,ENST00000604380,;DOPEY1,downstream_gene_variant,,ENST00000536812,;							MODERATE	1370/7398	G457E	DOP1_HUMAN			Transcript		benign(0.224)	.	ENSP00000195654		CCDS4996.1			1	
GP5	0	LGGM	GRCh37	3	194117415	194117415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072820	H072820N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072820N.bam, H072820T.bam	Illumina HiSeq	99	59	.	.	ENST00000401815.1:c.1597G>A	p.Ala533Thr	p.A533T	ENST00000401815		533	Gcc/Acc	0	1	1	UPI000004B117	0	NA	ENST00000401815		ENSG00000178732	4443		158	1.04		HGNC	p.A533T		GP5		SNV							ENST00000323007	protein_coding	getma.org/?cm=var&var=hg19,3,194117415,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24373:SF12,hmmpanther:PTHR24373		A/T		T	low	1669/3534		getma.org/?cm=msa&ty=f&p=GPV_HUMAN&rb=423&re=560&var=A533T	deleterious(0)	D1MER9_HUMAN			YES	GP5,missense_variant,p.Ala533Thr,ENST00000401815,;GP5,missense_variant,p.Ala533Thr,ENST00000323007,NM_004488.2;							MODERATE	1597/1683	A533T	GPV_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000383931		CCDS3307.1			1	
CADPS	0	LGGM	GRCh37	3	62860703	62860703	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	5	2	.	.	ENST00000383710.4:c.2T>C	p.Met1?	p.M1?	ENST00000383710	NM_003716.3	1	aTg/aCg	0	1	1	UPI00001C036A	0	NA	ENST00000383710		ENSG00000163618	1426		7	0		HGNC	p.M1T		CADPS		SNV							ENST00000490353	protein_coding	getma.org/?cm=var&var=hg19,3,62860703,A,G&fts=all				M/T		G	NA	352/5471		http://getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=1&re=200&var=M1T	deleterious_low_confidence(0)				YES	CADPS,start_lost,p.Met1?,ENST00000383710,NM_003716.3;CADPS,start_lost,p.Met1?,ENST00000357948,NM_183393.2;CADPS,start_lost,p.Met1?,ENST00000283269,NM_183394.2;CADPS,start_lost,p.Met1?,ENST00000490353,;							HIGH	Feb-62	M1T	CAPS1_HUMAN			Transcript		unknown(0)	.	ENSP00000373215		CCDS46858.1			1	
GAS8	0	LGGM	GRCh37	16	90110297	90110297	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	1	2	.	.	ENST00000268699.4:c.*544C>A		*182*	ENST00000268699	NM_001481.2			0	1	1	UPI0000070A4C	0		ENST00000268699		ENSG00000141013	4166		3			HGNC	p.C70F		GAS8		SNV							ENST00000521551	protein_coding							A		2103/3185				H3BUA7_HUMAN,H3BP65_HUMAN,H3BNL3_HUMAN,G3V1L5_HUMAN			YES	GAS8,3_prime_UTR_variant,,ENST00000268699,NM_001481.2,NM_001286205.1;GAS8,downstream_gene_variant,,ENST00000536122,NM_001286209.1;URAHP,non_coding_transcript_exon_variant,,ENST00000517889,;URAHP,non_coding_transcript_exon_variant,,ENST00000409873,;URAHP,non_coding_transcript_exon_variant,,ENST00000409768,;URAHP,non_coding_transcript_exon_variant,,ENST00000521551,;GAS8,downstream_gene_variant,,ENST00000540721,;GAS8,3_prime_UTR_variant,,ENST00000566266,NM_001286208.1;GAS8,non_coding_transcript_exon_variant,,ENST00000569558,;GAS8,downstream_gene_variant,,ENST00000569399,;GAS8,downstream_gene_variant,,ENST00000564789,;GAS8,downstream_gene_variant,,ENST00000568284,;URAHP,downstream_gene_variant,,ENST00000610227,;							MODIFIER	-/1437		GAS8_HUMAN			Transcript			.	ENSP00000268699		CCDS10992.1			1	
WDR1	0	LGGM	GRCh37	4	10089391	10089391	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	3	2	.	.	ENST00000499869.2:c.891G>C	p.Leu297=	p.L297=	ENST00000499869		297	ctG/ctC	0	1		UPI0000138EDA	0		ENST00000382452		ENSG00000071127	12754		5			HGNC	p.L297L		WDR1		SNV							ENST00000382452	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19856,Superfamily_domains:SSF50974		L		G		1174/3142								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,;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,,ENST00000505543,;WDR1,non_coding_transcript_exon_variant,,ENST00000506246,;WDR1,non_coding_transcript_exon_variant,,ENST00000504739,;WDR1,non_coding_transcript_exon_variant,,ENST00000508949,;WDR1,downstream_gene_variant,,ENST00000510848,;WDR1,downstream_gene_variant,,ENST00000509695,;							LOW	891/1821		WDR1_HUMAN			Transcript			.	ENSP00000371890					1	
PDLIM1	0	LGGM	GRCh37	10	96997848	96997848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	5	2	.	.	ENST00000329399.6:c.824G>T	p.Arg275Leu	p.R275L	ENST00000329399	NM_020992.3	275	cGg/cTg	0	1	1	UPI00001314CB	0	getma.org/pdb.php?prot=PDLI1_HUMAN&from=260&to=314&var=R275L	ENST00000329399		ENSG00000107438	2067		7	0.445		HGNC	p.R275L	COSM1287058	PDLIM1		SNV						1	ENST00000329399	protein_coding	getma.org/?cm=var&var=hg19,10,96997848,C,A&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24214:SF5,hmmpanther:PTHR24214,PROSITE_patterns:PS00478,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716		R/L		A	neutral	933/1452		getma.org/?cm=msa&ty=f&p=PDLI1_HUMAN&rb=260&re=314&var=R275L	deleterious(0)				YES	PDLIM1,missense_variant,p.Arg275Leu,ENST00000329399,NM_020992.3;PDLIM1,non_coding_transcript_exon_variant,,ENST00000477757,;PDLIM1,non_coding_transcript_exon_variant,,ENST00000492511,;PDLIM1,downstream_gene_variant,,ENST00000490391,;					1		MODERATE	824/990	R275L	PDLI1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000360305		CCDS7441.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84694120	84694120	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	8	2	.	.	ENST00000286744.5:c.4588A>G	p.Lys1530Glu	p.K1530E	ENST00000286744	NM_207517.2	1530	Aaa/Gaa	0	1	1	UPI00001615A5	0	NA	ENST00000286744		ENSG00000156218	14633		10	0.025		HGNC	p.K1530E		ADAMTSL3		SNV							ENST00000567476	protein_coding	getma.org/?cm=var&var=hg19,15,84694120,A,G&fts=all		Gene3D:2.20.100.10,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00209,Superfamily_domains:SSF82895		K/E		G	neutral	4812/7336		getma.org/?cm=msa&ty=f&p=ATL3_HUMAN&rb=1488&re=1544&var=K1530E	tolerated(0.68)				YES	ADAMTSL3,missense_variant,p.Lys1530Glu,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Lys1530Glu,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;							MODERATE	4588/5076	K1530E	ATL3_HUMAN			Transcript		benign(0.005)	.	ENSP00000286744		CCDS10326.1			1	
COL16A1	0	LGGM	GRCh37	1	32154464	32154464	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	8	2	.	.	ENST00000373672.3:c.1765C>G	p.Pro589Ala	p.P589A	ENST00000373672	NM_001856.3	589	Ccg/Gcg	0	1	1	UPI0000203DD1	0	NA	ENST00000373672		ENSG00000084636	2193		10	1.99		HGNC	p.P589A		COL16A1		SNV							ENST00000373668	protein_coding	getma.org/?cm=var&var=hg19,1,32154464,G,C&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF372,Low_complexity_(Seg):seg		P/A		C	medium	2282/5736		getma.org/?cm=msa&ty=f&p=COGA1_HUMAN&rb=571&re=635&var=P589A					YES	COL16A1,missense_variant,p.Pro589Ala,ENST00000373672,NM_001856.3;COL16A1,missense_variant,p.Pro589Ala,ENST00000271069,;COL16A1,missense_variant,p.Pro589Ala,ENST00000373668,;COL16A1,missense_variant,p.Pro308Ala,ENST00000373667,;COL16A1,splice_region_variant,,ENST00000482478,;COL16A1,splice_region_variant,,ENST00000474000,;COL16A1,splice_region_variant,,ENST00000529928,;							MODERATE	1765/4815	P589A	COGA1_HUMAN			Transcript		unknown(0)	.	ENSP00000362776		CCDS41297.1			1	
NLRC3	0	LGGM	GRCh37	16	3607596	3607596	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	23	2	.	.	ENST00000448023.2:c.2238G>C	p.Leu746=	p.L746=	ENST00000448023		746	ctG/ctC	0	1		UPI0001AE6800	0		ENST00000359128		ENSG00000167984	29889		25			HGNC	p.L699L		NLRC3		SNV							ENST00000359128	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF16,SMART_domains:SM00368,Superfamily_domains:SSF52047		L		G		2578/6379				B5MDB6_HUMAN				NLRC3,splice_region_variant,p.=,ENST00000301749,NM_178844.2;NLRC3,splice_region_variant,p.=,ENST00000359128,;NLRC3,splice_region_variant,p.=,ENST00000448023,;NLRC3,splice_region_variant,,ENST00000419350,;NLRC3,splice_region_variant,,ENST00000603128,;NLRC3,upstream_gene_variant,,ENST00000604347,;NLRC3,splice_region_variant,p.=,ENST00000603507,;							LOW	2097/3111					Transcript			.	ENSP00000352039					1	
ABCC12	0	LGGM	GRCh37	16	48158196	48158196	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	39	3	.	.	ENST00000311303.3:c.1516-1G>T		p.X506_splice	ENST00000311303	NM_033226.2			0	1	1	UPI0000456987	0		ENST00000311303		ENSG00000140798	14640		42			HGNC	-		ABCC12		SNV							ENST00000311303	protein_coding							A		-/5168				E9PHY2_HUMAN			YES	ABCC12,splice_acceptor_variant,,ENST00000311303,NM_033226.2;ABCC12,splice_acceptor_variant,,ENST00000416054,;ABCC12,splice_acceptor_variant,,ENST00000448542,;ABCC12,splice_acceptor_variant,,ENST00000529084,;ABCC12,splice_acceptor_variant,,ENST00000534418,;ABCC12,splice_acceptor_variant,,ENST00000497206,;ABCC12,splice_acceptor_variant,,ENST00000532494,;ABCC12,splice_acceptor_variant,,ENST00000529504,;ABCC12,splice_acceptor_variant,,ENST00000528693,;							HIGH	1516/4080		MRP9_HUMAN			Transcript			.	ENSP00000311030		CCDS10730.1			1	
ASTN1	0	LGGM	GRCh37	1	176903288	176903288	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	42	3	.	.	ENST00000361833.2:c.2671G>T	p.Gly891Cys	p.G891C	ENST00000361833		891	Ggc/Tgc	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		45	1.445		HGNC	p.G891C		ASTN1		SNV							ENST00000367657	protein_coding	getma.org/?cm=var&var=hg19,1,176903288,C,A&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8,SMART_domains:SM00457		G/C		A	low	2685/7116		getma.org/?cm=msa&ty=f&p=ASTN1_HUMAN&rb=801&re=1000&var=G899C	deleterious(0)	Q96BL7_HUMAN			YES	ASTN1,missense_variant,p.Gly899Cys,ENST00000367654,NM_004319.1;ASTN1,missense_variant,p.Gly891Cys,ENST00000361833,;ASTN1,missense_variant,p.Gly891Cys,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Gly891Cys,ENST00000424564,NM_207108.1;ASTN1,downstream_gene_variant,,ENST00000281881,;							MODERATE	2671/3885	G899C	ASTN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000354536		CCDS1319.1			1	
DDHD2	0	LGGM	GRCh37	8	38099860	38099860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	20	3	.	.	ENST00000397166.2:c.805C>A	p.Pro269Thr	p.P269T	ENST00000397166	NM_015214.2	269	Cca/Aca	0	1	1	UPI0000160E07	0	NA	ENST00000397166		ENSG00000085788	29106		23	3.175		HGNC	p.P269T		DDHD2		SNV			1				ENST00000520272	protein_coding	getma.org/?cm=var&var=hg19,8,38099860,C,A&fts=all		hmmpanther:PTHR15457:SF7,hmmpanther:PTHR15457		P/T		A	medium	1330/4921		getma.org/?cm=msa&ty=f&p=DDHD2_HUMAN&rb=113&re=312&var=P269T	deleterious(0)	H0YE64_HUMAN,E9PQY9_HUMAN,E9PPH8_HUMAN,E9PP45_HUMAN,E9PK57_HUMAN,B3KXB5_HUMAN			YES	DDHD2,missense_variant,p.Pro269Thr,ENST00000397166,NM_015214.2;DDHD2,missense_variant,p.Pro269Thr,ENST00000520272,NM_001164232.1;DDHD2,missense_variant,p.Pro62Thr,ENST00000532106,;DDHD2,upstream_gene_variant,,ENST00000517385,;DDHD2,downstream_gene_variant,,ENST00000532222,;DDHD2,downstream_gene_variant,,ENST00000528358,;DDHD2,downstream_gene_variant,,ENST00000527834,;DDHD2,downstream_gene_variant,,ENST00000529642,;DDHD2,non_coding_transcript_exon_variant,,ENST00000528888,;DDHD2,downstream_gene_variant,,ENST00000526370,;DDHD2,3_prime_UTR_variant,,ENST00000527415,;DDHD2,non_coding_transcript_exon_variant,,ENST00000531344,;DDHD2,downstream_gene_variant,,ENST00000519857,;DDHD2,upstream_gene_variant,,ENST00000528504,;DDHD2,downstream_gene_variant,,ENST00000526237,;							MODERATE	805/2136	P269T	DDHD2_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000380352		CCDS34883.1			1	
SEMA5B	0	LGGM	GRCh37	3	122630896	122630896	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	6	3	.	.	ENST00000451055.2:c.3079G>T	p.Glu1027Ter	p.E1027*	ENST00000451055	NM_001256347.1	1027	Gag/Tag	0	1		UPI000014082F	0	NA	ENST00000357599		ENSG00000082684	10737		9	0		HGNC	p.E1027X		SEMA5B		SNV							ENST00000451055	protein_coding	getma.org/?cm=var&var=hg19,3,122630896,C,A&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF39,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		E/*		A	NA	3304/4792		NA		C9JTX2_HUMAN,C9JTV9_HUMAN,B5ME80_HUMAN				SEMA5B,stop_gained,p.Glu971Ter,ENST00000195173,;SEMA5B,stop_gained,p.Glu973Ter,ENST00000357599,NM_001256348.1,NM_001031702.3;SEMA5B,stop_gained,p.Glu1027Ter,ENST00000451055,NM_001256347.1;SEMA5B,stop_gained,p.Glu973Ter,ENST00000393583,NM_001256346.1;SEMA5B,stop_gained,p.Glu19Ter,ENST00000451541,;SEMA5B,stop_gained,p.Glu973Ter,ENST00000475244,;							HIGH	2917/3456	E973*	SEM5B_HUMAN			Transcript			.	ENSP00000350215		CCDS35491.1			1	
BAG4	0	LGGM	GRCh37	8	38065218	38065218	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	25	3	.	.	ENST00000287322.4:c.567C>A	p.Pro189=	p.P189=	ENST00000287322	NM_004874.3	189	ccC/ccA	0	1	1	UPI0000126769	0		ENST00000287322		ENSG00000156735	940		28			HGNC	p.P153P		BAG4		SNV							ENST00000432471	protein_coding			hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329		P		A		838/4453							YES	BAG4,synonymous_variant,p.=,ENST00000287322,NM_004874.3;BAG4,synonymous_variant,p.=,ENST00000432471,NM_001204878.1;BAG4,synonymous_variant,p.=,ENST00000521311,;BAG4,non_coding_transcript_exon_variant,,ENST00000521282,;RP11-90P5.1,upstream_gene_variant,,ENST00000503480,;							LOW	567/1374		BAG4_HUMAN			Transcript			.	ENSP00000287322		CCDS6104.1			1	
KIAA1217	0	LGGM	GRCh37	10	24508665	24508665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	40	3	.	.	ENST00000376454.3:c.181C>A	p.Arg61Ser	p.R61S	ENST00000376454	NM_019590.3	61	Cgc/Agc	0	1	1	UPI000013EC2A	0	NA	ENST00000376454		ENSG00000120549	25428		43	1.04		HGNC	p.R61S		KIAA1217		SNV							ENST00000376452	protein_coding	getma.org/?cm=var&var=hg19,10,24508665,C,A&fts=all		hmmpanther:PTHR22741,hmmpanther:PTHR22741:SF4		R/S		A	low	211/7381		getma.org/?cm=msa&ty=f&p=SKT_HUMAN&rb=1&re=1941&var=R61S	deleterious(0.02)				YES	KIAA1217,missense_variant,p.Arg61Ser,ENST00000376454,NM_019590.3;KIAA1217,missense_variant,p.Arg61Ser,ENST00000458595,NM_001098501.1,NM_001282768.1;KIAA1217,missense_variant,p.Arg61Ser,ENST00000376452,NM_001282767.1;KIAA1217,missense_variant,p.Arg61Ser,ENST00000376456,;KIAA1217,5_prime_UTR_variant,,ENST00000376462,NM_001098500.1;							MODERATE	181/5832	R61S	SKT_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000365637		CCDS31165.1			1	
GEMIN5	0	LGGM	GRCh37	5	154292489	154292489	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	23	3	.	.	ENST00000285873.7:c.1965G>T	p.Leu655=	p.L655=	ENST00000285873	NM_001252156.1	655	ctG/ctT	0	1	1	UPI000020D072	0		ENST00000285873		ENSG00000082516	20043		26			HGNC	p.L655L		GEMIN5		SNV							ENST00000285873	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89,SMART_domains:SM00320,Superfamily_domains:SSF50998		L		A		2041/5397				Q58EZ8_HUMAN			YES	GEMIN5,synonymous_variant,p.=,ENST00000285873,NM_001252156.1,NM_015465.4;							LOW	1965/4527		GEMI5_HUMAN			Transcript			.	ENSP00000285873		CCDS4330.1			1	
SLC6A3	0	LGGM	GRCh37	5	1443079	1443079	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	31	3	.	.	ENST00000270349.9:c.234G>T	p.Val78=	p.V78=	ENST00000270349	NM_001044.4	78	gtG/gtT	0	1	1	UPI000013548F	0		ENST00000270349		ENSG00000142319	11049		34			HGNC	p.V78V		SLC6A3		SNV			1				ENST00000453492	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00176,Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267		V		A		362/3932				Q6LC27_HUMAN,H0YBA7_HUMAN			YES	SLC6A3,synonymous_variant,p.=,ENST00000270349,NM_001044.4;SLC6A3,synonymous_variant,p.=,ENST00000453492,;SLC6A3,synonymous_variant,p.=,ENST00000513308,;							LOW	234/1863		SC6A3_HUMAN			Transcript			.	ENSP00000270349		CCDS3863.1			1	
FBXW10	0	LGGM	GRCh37	17	18653244	18653244	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	37	3	.	.	ENST00000395665.4:c.871+9G>T		*291*	ENST00000395665				0	1	1	UPI0000200B30	0		ENST00000395665		ENSG00000171931	1211		40			HGNC	p.G294W		FBXW10		SNV							ENST00000308799	protein_coding							T		-/3431							YES	FBXW10,missense_variant,p.Gly294Trp,ENST00000308799,;FBXW10,intron_variant,,ENST00000395667,NM_001267585.1;FBXW10,intron_variant,,ENST00000395665,;FBXW10,intron_variant,,ENST00000301938,NM_001267586.1;FBXW10,intron_variant,,ENST00000574478,;							MODIFIER	-/3159		FBW10_HUMAN			Transcript			.	ENSP00000379025		CCDS11199.3			1	
PDS5B	0	LGGM	GRCh37	13	33327573	33327573	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	25	3	.	.	ENST00000315596.10:c.2840C>G	p.Ala947Gly	p.A947G	ENST00000315596	NM_015032.3	947	gCa/gGa	0	1	1	UPI000006D4A9	0	NA	ENST00000315596		ENSG00000083642	20418		28	0.55		HGNC	p.A947G		PDS5B		SNV							ENST00000450460	protein_coding	getma.org/?cm=var&var=hg19,13,33327573,C,G&fts=all		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		A/G		G	neutral	3026/7497		getma.org/?cm=msa&ty=f&p=PDS5B_HUMAN&rb=1&re=1137&var=A947G	tolerated(0.68)				YES	PDS5B,missense_variant,p.Ala947Gly,ENST00000315596,NM_015032.3;PDS5B,upstream_gene_variant,,ENST00000447833,;PDS5B,missense_variant,p.Ala947Gly,ENST00000450460,;							MODERATE	2840/4344	A947G	PDS5B_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000313851		CCDS41878.1			1	
STAT5B	0	LGGM	GRCh37	17	40369409	40369409	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	47	3	.	.	ENST00000293328.3:c.1243C>A	p.His415Asn	p.H415N	ENST00000293328	NM_012448.3	415	Cac/Aac	0	1	1	UPI000006F059	0	getma.org/pdb.php?prot=STA5B_HUMAN&from=332&to=583&var=H415N	ENST00000293328		ENSG00000173757	11367		50	-0.515		HGNC	p.H415N		STAT5B		SNV			1				ENST00000293328	protein_coding	getma.org/?cm=var&var=hg19,17,40369409,G,T&fts=all		hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417		H/N		T	neutral	1412/5103		getma.org/?cm=msa&ty=f&p=STA5B_HUMAN&rb=332&re=583&var=H415N	tolerated(0.86)	C9J4I3_HUMAN			YES	STAT5B,missense_variant,p.His415Asn,ENST00000293328,NM_012448.3;STAT5B,non_coding_transcript_exon_variant,,ENST00000481517,;STAT5B,downstream_gene_variant,,ENST00000468312,;STAT5B,upstream_gene_variant,,ENST00000468496,;							MODERATE	1243/2364	H415N	STA5B_HUMAN			Transcript		benign(0.019)	.	ENSP00000293328		CCDS11423.1			1	
MAP1B	0	LGGM	GRCh37	5	71493031	71493031	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	31	3	.	.	ENST00000296755.7:c.3849C>A	p.Pro1283=	p.P1283=	ENST00000296755	NM_005909.3	1283	ccC/ccA	0	1	1	UPI000013E382	0		ENST00000296755		ENSG00000131711	6836		34			HGNC	p.P1283P		MAP1B		SNV							ENST00000296755	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		P		A		4147/12034				D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							LOW	3849/7407		MAP1B_HUMAN			Transcript			.	ENSP00000296755		CCDS4012.1			1	
AQP5	0	LGGM	GRCh37	12	50358908	50358908	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	17	3	.	.	ENST00000293599.6:c.746G>T	p.Trp249Leu	p.W249L	ENST00000293599	NM_001651.3	249	tGg/tTg	0	1	1	UPI000004A0C9	0	NA	ENST00000293599		ENSG00000161798	638		20	2.215		HGNC	p.W249L		AQP5		SNV			1				ENST00000293599	protein_coding	getma.org/?cm=var&var=hg19,12,50358908,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19139:SF38,hmmpanther:PTHR19139		W/L		T	medium	894/1450		getma.org/?cm=msa&ty=f&p=AQP5_HUMAN&rb=222&re=265&var=W249L	tolerated(0.76)				YES	AQP5,missense_variant,p.Trp249Leu,ENST00000293599,NM_001651.3;AQP6,upstream_gene_variant,,ENST00000551733,;RP11-469H8.6,upstream_gene_variant,,ENST00000550214,;RP11-469H8.6,upstream_gene_variant,,ENST00000552379,;RP11-469H8.6,upstream_gene_variant,,ENST00000550530,;AQP5,non_coding_transcript_exon_variant,,ENST00000553132,;AQP6,upstream_gene_variant,,ENST00000489786,;							MODERATE	746/798	W249L	AQP5_HUMAN			Transcript		possibly_damaging(0.697)	.	ENSP00000293599		CCDS8793.1			1	
C3orf17	0	LGGM	GRCh37	3	112729982	112729982	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	37	3	.	.	ENST00000314400.5:c.823G>T	p.Gly275Ter	p.G275*	ENST00000314400	NM_015412.3	275	Gga/Tga	0	1	1	UPI0000367197	0	NA	ENST00000314400		ENSG00000163608	24496		40	0		HGNC	p.G275X		C3orf17		SNV							ENST00000314400	protein_coding	getma.org/?cm=var&var=hg19,3,112729982,C,A&fts=all				G/*		A	NA	1015/4992		NA		C9J9E3_HUMAN,A8MVI8_HUMAN			YES	C3orf17,stop_gained,p.Gly275Ter,ENST00000314400,NM_015412.3;C3orf17,stop_gained,p.Gly205Ter,ENST00000383675,;C3orf17,stop_gained,p.Gly139Ter,ENST00000393857,;C3orf17,downstream_gene_variant,,ENST00000472166,;C3orf17,non_coding_transcript_exon_variant,,ENST00000472762,;C3orf17,downstream_gene_variant,,ENST00000494575,;C3orf17,stop_gained,p.Gly205Ter,ENST00000461381,;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,,ENST00000462295,;C3orf17,3_prime_UTR_variant,,ENST00000460410,;C3orf17,3_prime_UTR_variant,,ENST00000496206,;C3orf17,3_prime_UTR_variant,,ENST00000494164,;C3orf17,3_prime_UTR_variant,,ENST00000491121,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000482229,;C3orf17,non_coding_transcript_exon_variant,,ENST00000464816,;GTPBP8,intron_variant,,ENST00000485330,;C3orf17,intron_variant,,ENST00000469809,;C3orf17,intron_variant,,ENST00000472705,;C3orf17,upstream_gene_variant,,ENST00000474311,;C3orf17,downstream_gene_variant,,ENST00000494891,;C3orf17,downstream_gene_variant,,ENST00000470663,;C3orf17,downstream_gene_variant,,ENST00000496340,;							HIGH	823/1704	G275*	CC017_HUMAN			Transcript			.	ENSP00000320251		CCDS33824.1			1	
LRRN4	0	LGGM	GRCh37	20	6022294	6022294	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	32	3	.	.	ENST00000378858.4:c.1597G>T	p.Gly533Trp	p.G533W	ENST00000378858	NM_152611.4	533	Ggg/Tgg	0	1	1	UPI000013CBD3	0	NA	ENST00000378858		ENSG00000125872	16208		35	0.345		HGNC	p.G533W		LRRN4		SNV							ENST00000378858	protein_coding	getma.org/?cm=var&var=hg19,20,6022294,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF1		G/W		A	neutral	1822/2692		getma.org/?cm=msa&ty=f&p=LRRN4_HUMAN&rb=376&re=538&var=G533W	deleterious(0.02)				YES	LRRN4,missense_variant,p.Gly533Trp,ENST00000378858,NM_152611.4;CRLS1,downstream_gene_variant,,ENST00000378863,NM_019095.4;CRLS1,downstream_gene_variant,,ENST00000452938,;CRLS1,downstream_gene_variant,,ENST00000378868,NM_001127458.1;CRLS1,downstream_gene_variant,,ENST00000478846,;							MODERATE	1597/2223	G533W	LRRN4_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000368135		CCDS13097.1			1	
FAM196A	0	LGGM	GRCh37	10	128974009	128974009	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	5	3	.	.	ENST00000522781.1:c.651C>A	p.Ser217=	p.S217=	ENST00000522781	NM_001039762.2	217	tcC/tcA	0	1	1	UPI00001C0E37	0		ENST00000522781		ENSG00000188916	33859		8			HGNC	p.S217S		FAM196A		SNV							ENST00000522781	protein_coding			Pfam_domain:PF15265		S		T		1207/4403							YES	FAM196A,synonymous_variant,p.=,ENST00000522781,NM_001039762.2;FAM196A,synonymous_variant,p.=,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.3;							LOW	651/1440		F196A_HUMAN			Transcript			.	ENSP00000429763		CCDS31312.1			1	
USP22	0	LGGM	GRCh37	17	20921311	20921311	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	32	3	.	.	ENST00000261497.4:c.634G>T	p.Glu212Ter	p.E212*	ENST00000261497	NM_015276.1	212	Gag/Tag	0	1	1	UPI00001C1FC6	0	NA	ENST00000261497		ENSG00000124422	12621		35	0		HGNC	p.E200X		USP22		SNV							ENST00000537526	protein_coding	getma.org/?cm=var&var=hg19,17,20921311,C,A&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF347,Superfamily_domains:SSF54001		E/*		A	NA	838/5216		NA		Q9NSJ7_HUMAN,K7ESK0_HUMAN,K7ERX6_HUMAN			YES	USP22,stop_gained,p.Glu212Ter,ENST00000261497,NM_015276.1;USP22,stop_gained,p.Glu200Ter,ENST00000537526,;USP22,stop_gained,p.Glu107Ter,ENST00000476111,;USP22,stop_gained,p.Glu107Ter,ENST00000584538,;USP22,stop_gained,p.Glu58Ter,ENST00000582335,;USP22,non_coding_transcript_exon_variant,,ENST00000577610,;USP22,intron_variant,,ENST00000455117,;USP22,3_prime_UTR_variant,,ENST00000579645,;USP22,non_coding_transcript_exon_variant,,ENST00000578446,;							HIGH	634/1578	E212*	UBP22_HUMAN			Transcript			.	ENSP00000261497		CCDS42285.1			1	
CHKA	0	LGGM	GRCh37	11	67838270	67838270	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	27	3	.	.	ENST00000265689.4:c.685G>T	p.Ala229Ser	p.A229S	ENST00000265689	NM_001277.2	229	Gcc/Tcc	0	1	1	UPI000013D662	0	getma.org/pdb.php?prot=CHKA_HUMAN&from=139&to=374&var=A229S	ENST00000265689		ENSG00000110721	1937		30	3.245		HGNC	p.A211S		CHKA		SNV							ENST00000356135	protein_coding	getma.org/?cm=var&var=hg19,11,67838270,C,A&fts=all		hmmpanther:PTHR22603,hmmpanther:PTHR22603:SF21,Pfam_domain:PF01633,Gene3D:3.90.1200.10,Superfamily_domains:SSF56112		A/S		A	medium	712/2530		getma.org/?cm=msa&ty=f&p=CHKA_HUMAN&rb=139&re=374&var=A229S	deleterious(0.01)	E9PM06_HUMAN			YES	CHKA,missense_variant,p.Ala229Ser,ENST00000265689,NM_001277.2;CHKA,missense_variant,p.Ala211Ser,ENST00000356135,NM_212469.1;CHKA,missense_variant,p.Ala107Ser,ENST00000531341,;CHKA,non_coding_transcript_exon_variant,,ENST00000528235,;CHKA,downstream_gene_variant,,ENST00000530730,;CHKA,non_coding_transcript_exon_variant,,ENST00000533910,;CHKA,upstream_gene_variant,,ENST00000525155,;							MODERATE	685/1374	A229S	CHKA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265689		CCDS8178.1			1	
DMTN	0	LGGM	GRCh37	8	21927880	21927880	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	3	.	.	ENST00000523266.1:c.604+35G>T		*202*	ENST00000523266	NM_001978.2			0	1		UPI0000129189	0		ENST00000265800		ENSG00000158856	3382		17			HGNC	p.L188L		DMTN		SNV							ENST00000520174	protein_coding							T		-/2554				E5RJ61_HUMAN				DMTN,synonymous_variant,p.=,ENST00000520174,;DMTN,intron_variant,,ENST00000358242,;DMTN,intron_variant,,ENST00000523266,NM_001978.2;DMTN,intron_variant,,ENST00000519907,;DMTN,intron_variant,,ENST00000381470,NM_001114137.1;DMTN,intron_variant,,ENST00000415253,NM_001114138.1;DMTN,intron_variant,,ENST00000265800,NM_001114135.2;DMTN,intron_variant,,ENST00000432128,NM_001114136.1;DMTN,intron_variant,,ENST00000443491,NM_001114139.1;DMTN,intron_variant,,ENST00000523782,;DMTN,intron_variant,,ENST00000517600,;DMTN,downstream_gene_variant,,ENST00000517418,;DMTN,downstream_gene_variant,,ENST00000517804,;DMTN,downstream_gene_variant,,ENST00000522148,;DMTN,downstream_gene_variant,,ENST00000523300,;DMTN,downstream_gene_variant,,ENST00000519850,;DMTN,downstream_gene_variant,,ENST00000523623,;DMTN,intron_variant,,ENST00000517305,;DMTN,downstream_gene_variant,,ENST00000518816,;DMTN,downstream_gene_variant,,ENST00000522340,;DMTN,downstream_gene_variant,,ENST00000520856,;DMTN,downstream_gene_variant,,ENST00000519333,;DMTN,downstream_gene_variant,,ENST00000519959,;							MODIFIER	-/1218		DEMA_HUMAN			Transcript			.	ENSP00000265800		CCDS6020.1			1	
DAGLB	0	LGGM	GRCh37	7	6456522	6456522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	3	.	.	ENST00000297056.6:c.1249C>A	p.Gln417Lys	p.Q417K	ENST00000297056	NM_139179.3	417	Caa/Aaa	0	1	1	UPI000006E01F	0	getma.org/pdb.php?prot=DGLB_HUMAN&from=370&to=505&var=Q417K	ENST00000297056		ENSG00000164535	28923		27	-0.38		HGNC	p.Q290K		DAGLB		SNV							ENST00000428902	protein_coding	getma.org/?cm=var&var=hg19,7,6456522,G,T&fts=all		hmmpanther:PTHR21493:SF8,hmmpanther:PTHR21493,Gene3D:3.40.50.1820,Pfam_domain:PF01764,Superfamily_domains:SSF53474		Q/K		T	neutral	1419/2897		getma.org/?cm=msa&ty=f&p=DGLB_HUMAN&rb=370&re=505&var=Q417K	tolerated(0.57)	E7ET49_HUMAN,B3KR38_HUMAN			YES	DAGLB,missense_variant,p.Gln417Lys,ENST00000297056,NM_139179.3;DAGLB,missense_variant,p.Gln376Lys,ENST00000436575,;DAGLB,missense_variant,p.Gln288Lys,ENST00000425398,NM_001142936.1;DAGLB,missense_variant,p.Gln290Lys,ENST00000428902,;DAGLB,missense_variant,p.Gln161Lys,ENST00000421761,;DAGLB,3_prime_UTR_variant,,ENST00000454738,;DAGLB,non_coding_transcript_exon_variant,,ENST00000462934,;DAGLB,non_coding_transcript_exon_variant,,ENST00000482149,;DAGLB,upstream_gene_variant,,ENST00000497308,;							MODERATE	1249/2019	Q417K	DGLB_HUMAN			Transcript		benign(0.002)	.	ENSP00000297056		CCDS5350.1			1	
PRRG4	0	LGGM	GRCh37	11	32874935	32874935	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	27	3	.	.	ENST00000257836.3:c.543G>T	p.Val181=	p.V181=	ENST00000257836	NM_024081.5	181	gtG/gtT	0	1	1	UPI000013707A	0		ENST00000257836		ENSG00000135378	30799		30			HGNC	p.V181V		PRRG4		SNV							ENST00000257836	protein_coding			hmmpanther:PTHR24251,hmmpanther:PTHR24251:SF15		V		T		796/5530							YES	PRRG4,synonymous_variant,p.=,ENST00000257836,NM_024081.5;							LOW	543/681		TMG4_HUMAN			Transcript			.	ENSP00000257836		CCDS7881.1			1	
SLC52A2	0	LGGM	GRCh37	8	145583397	145583397	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	41	3	.	.	ENST00000532887.1:c.245G>T	p.Arg82Leu	p.R82L	ENST00000532887		82	cGg/cTg	0	1		UPI000004470A	0	NA	ENST00000329994		ENSG00000185803	30224		44	0.44		HGNC	p.R82L		SLC52A2		SNV			1				ENST00000530047	protein_coding	getma.org/?cm=var&var=hg19,8,145583397,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF5,hmmpanther:PTHR12929		R/L		T	neutral	546/1896		getma.org/?cm=msa&ty=f&p=RFT3_HUMAN&rb=1&re=200&var=R82L	tolerated(0.1)	F5GXA8_HUMAN,E9PRC3_HUMAN,E9PIX2_HUMAN				SLC52A2,missense_variant,p.Arg82Leu,ENST00000532887,;SLC52A2,missense_variant,p.Arg82Leu,ENST00000329994,NM_024531.4;SLC52A2,missense_variant,p.Arg82Leu,ENST00000527078,;SLC52A2,missense_variant,p.Arg82Leu,ENST00000402965,NM_001253815.1;SLC52A2,missense_variant,p.Arg82Leu,ENST00000530047,NM_001253816.1;SLC52A2,missense_variant,p.Arg82Leu,ENST00000534725,;SLC52A2,5_prime_UTR_variant,,ENST00000540505,;SLC52A2,intron_variant,,ENST00000526752,;SLC52A2,intron_variant,,ENST00000526338,;FBXL6,upstream_gene_variant,,ENST00000331890,NM_012162.3;FBXL6,upstream_gene_variant,,ENST00000455319,NM_024555.5;TMEM249,upstream_gene_variant,,ENST00000398633,NM_001252402.2,NM_001280561.1;TMEM249,upstream_gene_variant,,ENST00000526263,NM_001252404.2;SLC52A2,downstream_gene_variant,,ENST00000524541,;SLC52A2,non_coding_transcript_exon_variant,,ENST00000526891,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000530687,;FBXL6,upstream_gene_variant,,ENST00000524909,;SLC52A2,missense_variant,p.Arg82Leu,ENST00000526779,;SLC52A2,non_coding_transcript_exon_variant,,ENST00000533662,;FBXL6,upstream_gene_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;GS1-393G12.13,upstream_gene_variant,,ENST00000531225,;FBXL6,upstream_gene_variant,,ENST00000529279,;							MODERATE	245/1338	R82L	S52A2_HUMAN			Transcript		benign(0.079)	.	ENSP00000333638		CCDS6423.1			1	
CPT1C	0	LGGM	GRCh37	19	50209246	50209246	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	38	3	.	.	ENST00000392518.4:c.1045C>A	p.Arg349=	p.R349=	ENST00000392518	NM_001199752.1	349	Cga/Aga	0	1		UPI0000071C78	0		ENST00000323446		ENSG00000169169	18540		41			HGNC	p.R349R		CPT1C		SNV							ENST00000323446	protein_coding			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55,Pfam_domain:PF00755,Superfamily_domains:SSF52777		R		A		1290/2783				M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN				CPT1C,synonymous_variant,p.=,ENST00000392518,NM_001199752.1;CPT1C,synonymous_variant,p.=,ENST00000405931,NM_001136052.2;CPT1C,synonymous_variant,p.=,ENST00000323446,NM_152359.2;CPT1C,synonymous_variant,p.=,ENST00000598293,NM_001199753.1;CPT1C,synonymous_variant,p.=,ENST00000354199,;CPT1C,upstream_gene_variant,,ENST00000595031,;CPT1C,downstream_gene_variant,,ENST00000598396,;CPT1C,downstream_gene_variant,,ENST00000594587,;CPT1C,downstream_gene_variant,,ENST00000595969,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;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,,ENST00000595568,;							LOW	1045/2412		CPT1C_HUMAN			Transcript			.	ENSP00000319343		CCDS12779.1			1	
UNC5A	0	LGGM	GRCh37	5	176301462	176301462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	38	3	.	.	ENST00000329542.4:c.1273C>A	p.Arg425Ser	p.R425S	ENST00000329542	NM_133369.2	425	Cgc/Agc	0	1	1	UPI0000047F37	0	NA	ENST00000329542		ENSG00000113763	12567		41	1.3		HGNC	p.R425S		UNC5A		SNV							ENST00000329542	protein_coding	getma.org/?cm=var&var=hg19,5,176301462,C,A&fts=all		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582		R/S		A	low	1547/3812		getma.org/?cm=msa&ty=f&p=UNC5A_HUMAN&rb=240&re=438&var=R425S	tolerated(0.1)				YES	UNC5A,missense_variant,p.Arg425Ser,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.Arg385Ser,ENST00000261961,;UNC5A,downstream_gene_variant,,ENST00000509580,;UNC5A,downstream_gene_variant,,ENST00000513890,;							MODERATE	1273/2529	R425S	UNC5A_HUMAN			Transcript		benign(0.373)	.	ENSP00000332737		CCDS34299.1			1	
ALDOB	0	LGGM	GRCh37	9	104192241	104192241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	3	.	.	ENST00000374855.4:c.120G>T	p.Met40Ile	p.M40I	ENST00000374855	NM_000035.3	40	atG/atT	0	1	1	UPI000016A4A9	0	getma.org/pdb.php?prot=ALDOB_HUMAN&from=15&to=364&var=M40I	ENST00000374855		ENSG00000136872	417		27	-0.125		HGNC	p.M40I		ALDOB		SNV			1				ENST00000374855	protein_coding	getma.org/?cm=var&var=hg19,9,104192241,C,A&fts=all		Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2		M/I		A	neutral	245/2451		getma.org/?cm=msa&ty=f&p=ALDOB_HUMAN&rb=15&re=364&var=M40I	tolerated(1)				YES	ALDOB,missense_variant,p.Met40Ile,ENST00000374855,NM_000035.3;ALDOB,upstream_gene_variant,,ENST00000468981,;							MODERATE	120/1095	M40I	ALDOB_HUMAN			Transcript		benign(0.043)	.	ENSP00000363988		CCDS6756.1			1	
CSPP1	0	LGGM	GRCh37	8	68028355	68028355	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	45	3	.	.	ENST00000262210.5:c.1479C>A	p.Pro493=	p.P493=	ENST00000262210	NM_024790.6	493	ccC/ccA	0	1	1	UPI00005A95D7	0		ENST00000262210		ENSG00000104218	26193		48			HGNC	p.P199P		CSPP1		SNV			1				ENST00000519668	protein_coding			hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616		P		A		1510/4367							YES	CSPP1,splice_region_variant,p.=,ENST00000262210,NM_024790.6;CSPP1,splice_region_variant,p.=,ENST00000412460,;CSPP1,splice_region_variant,p.=,ENST00000519668,;CSPP1,splice_region_variant,,ENST00000519163,;							LOW	1479/3666		CSPP1_HUMAN			Transcript			.	ENSP00000262210		CCDS43744.1			1	
DNAH7	0	LGGM	GRCh37	2	196749436	196749436	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	22	3	.	.	ENST00000312428.6:c.5636G>T	p.Ser1879Ile	p.S1879I	ENST00000312428	NM_018897.2	1879	aGt/aTt	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=1721&to=1920&var=S1879I	ENST00000312428		ENSG00000118997	18661		25	1.165		HGNC	p.S1879I		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196749436,C,A&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676		S/I		A	low	5737/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1721&re=1920&var=S1879I	deleterious(0)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Ser1879Ile,ENST00000312428,NM_018897.2;							MODERATE	5636/12075	S1879I	DYH7_HUMAN			Transcript		benign(0.002)	.	ENSP00000311273		CCDS42794.1			1	
SETX	0	LGGM	GRCh37	9	135153523	135153523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	46	3	.	.	ENST00000224140.5:c.6776G>T	p.Arg2259Met	p.R2259M	ENST00000224140	NM_015046.5	2259	aGg/aTg	0	1	1	UPI0000210D28	0	getma.org/pdb.php?prot=SETX_HUMAN&from=2225&to=2426&var=R2259M	ENST00000224140		ENSG00000107290	445		49	4.295		HGNC	p.R2259M		SETX		SNV			1				ENST00000393220	protein_coding	getma.org/?cm=var&var=hg19,9,135153523,C,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336,Gene3D:3.40.50.300,Pfam_domain:PF13087,Superfamily_domains:SSF52540		R/M		A	high	6959/11100		getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=2225&re=2426&var=R2259M	deleterious(0)				YES	SETX,missense_variant,p.Arg2259Met,ENST00000372169,;SETX,missense_variant,p.Arg2259Met,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Arg2259Met,ENST00000393220,;SETX,missense_variant,p.Arg501Met,ENST00000436441,;SETX,upstream_gene_variant,,ENST00000477049,;SETX,downstream_gene_variant,,ENST00000474172,;SETX,upstream_gene_variant,,ENST00000464133,;							MODERATE	6776/8034	R2259M	SETX_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000224140		CCDS6947.1			1	
FNDC3A	0	LGGM	GRCh37	13	49719964	49719964	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	18	3	.	.	ENST00000492622.2:c.870C>A	p.Ser290=	p.S290=	ENST00000492622	NM_001079673.1	290	tcC/tcA	0	1	1	UPI0000229601	0		ENST00000492622		ENSG00000102531	20296		21			HGNC	p.S290S		FNDC3A		SNV							ENST00000492622	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF38,SMART_domains:SM00060,Superfamily_domains:SSF49265		S		A		1175/6286							YES	FNDC3A,synonymous_variant,p.=,ENST00000492622,NM_001079673.1;FNDC3A,synonymous_variant,p.=,ENST00000398316,NM_014923.4;FNDC3A,synonymous_variant,p.=,ENST00000541916,NM_001278438.1;FNDC3A,synonymous_variant,p.=,ENST00000484074,;FNDC3A,non_coding_transcript_exon_variant,,ENST00000378383,;							LOW	870/3597		FND3A_HUMAN			Transcript			.	ENSP00000417257		CCDS41886.1			1	
JMJD1C	0	LGGM	GRCh37	10	64979703	64979703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	41	3	.	.	ENST00000399262.2:c.488C>A	p.Pro163Gln	p.P163Q	ENST00000399262	NM_032776.1	163	cCg/cAg	0	1	1	UPI0000198BEF	0	NA	ENST00000399262		ENSG00000171988	12313		44	0.99		HGNC	p.P163Q		JMJD1C		SNV			1				ENST00000399262	protein_coding	getma.org/?cm=var&var=hg19,10,64979703,G,T&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6		P/Q		T	low	707/8666		getma.org/?cm=msa&ty=f&p=JHD2C_HUMAN&rb=1&re=249&var=P163Q	tolerated(0.15)				YES	JMJD1C,missense_variant,p.Pro163Gln,ENST00000399262,NM_032776.1;JMJD1C,5_prime_UTR_variant,,ENST00000399251,;JMJD1C,5_prime_UTR_variant,,ENST00000542921,NM_001282948.1;JMJD1C,intron_variant,,ENST00000402544,NM_004241.2;JMJD1C,non_coding_transcript_exon_variant,,ENST00000469152,;JMJD1C,intron_variant,,ENST00000489372,;TATDN1P1,upstream_gene_variant,,ENST00000414123,;							MODERATE	488/7623	P163Q	JHD2C_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000382204		CCDS41532.1			1	
FLNB	0	LGGM	GRCh37	3	58135866	58135866	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	27	3	.	.	ENST00000490882.1:c.6372A>G	p.Gly2124=	p.G2124=	ENST00000490882	NM_001164317.1	2124	ggA/ggG	0	1		UPI00001AEC01	0		ENST00000295956		ENSG00000136068	3755		30			HGNC	p.G2124G		FLNB		SNV			1				ENST00000490882	protein_coding			PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Superfamily_domains:SSF81296		G		G		6444/9463								FLNB,synonymous_variant,p.=,ENST00000357272,;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.=,ENST00000419752,;FLNB,synonymous_variant,p.=,ENST00000490882,NM_001164317.1;FLNB,synonymous_variant,p.=,ENST00000493452,;FLNB,intron_variant,,ENST00000348383,;FLNB,intron_variant,,ENST00000466455,;FLNB,synonymous_variant,p.=,ENST00000470231,;FLNB,non_coding_transcript_exon_variant,,ENST00000481470,;FLNB,non_coding_transcript_exon_variant,,ENST00000477629,;FLNB,upstream_gene_variant,,ENST00000468939,;FLNB,downstream_gene_variant,,ENST00000491408,;							LOW	6279/7809		FLNB_HUMAN			Transcript			.	ENSP00000295956		CCDS2885.1			1	
ITGA9	0	LGGM	GRCh37	3	37785506	37785506	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	30	3	.	.	ENST00000264741.5:c.2414C>A	p.Pro805His	p.P805H	ENST00000264741	NM_002207.2	805	cCc/cAc	0	1	1	UPI00001AE8BB	0	getma.org/pdb.php?prot=ITA9_HUMAN&from=459&to=915&var=P805H	ENST00000264741		ENSG00000144668	6145		33	1.79		HGNC	p.P805H		ITGA9		SNV			1				ENST00000264741	protein_coding	getma.org/?cm=var&var=hg19,3,37785506,C,A&fts=all		hmmpanther:PTHR23220:SF69,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179		P/H		A	low	2670/7889		getma.org/?cm=msa&ty=f&p=ITA9_HUMAN&rb=459&re=915&var=P805H	tolerated(0.14)				YES	ITGA9,missense_variant,p.Pro805His,ENST00000264741,NM_002207.2;AC093415.2,downstream_gene_variant,,ENST00000449586,;RPL21P135,upstream_gene_variant,,ENST00000442539,;							MODERATE	2414/3108	P805H	ITA9_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000264741		CCDS2669.1			1	
USP34	0	LGGM	GRCh37	2	61607331	61607331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	3	.	.	ENST00000398571.2:c.987G>T	p.Met329Ile	p.M329I	ENST00000398571	NM_014709.3	329	atG/atT	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		17	1.355		HGNC	p.M329I		USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61607331,C,A&fts=all				M/I		A	low	1064/11357		getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=201&re=400&var=M329I	tolerated(0.11)				YES	USP34,missense_variant,p.Met329Ile,ENST00000398571,NM_014709.3;USP34,3_prime_UTR_variant,,ENST00000453133,;							MODERATE	987/10641	M329I	UBP34_HUMAN			Transcript		possibly_damaging(0.48)	.	ENSP00000381577		CCDS42686.1			1	
ITPR3	0	LGGM	GRCh37	6	33635706	33635706	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	33	3	.	.	ENST00000374316.5:c.1851C>A	p.Thr617=	p.T617=	ENST00000374316		617	acC/acA	0	1	1	UPI000013CB74	0		ENST00000374316		ENSG00000096433	6182		36			HGNC	p.T617T		ITPR3		SNV							ENST00000374316	protein_coding			Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		T		A		2911/9870				A6H8K3_HUMAN			YES	ITPR3,synonymous_variant,p.=,ENST00000374316,;ITPR3,synonymous_variant,p.=,ENST00000605930,NM_002224.3;							LOW	1851/8016		ITPR3_HUMAN			Transcript			.	ENSP00000363435		CCDS4783.1			1	
RP11-1220K2.2	0	LGGM	GRCh37	7	141820162	141820162	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	16	3	.	.	ENST00000550469.2:c.167C>A	p.Pro56His	p.P56H	ENST00000550469		56	cCt/cAt	0	1		UPI0002B8321D	0		ENST00000477922		ENSG00000257743			19			Clone_based_vega_gene	p.P56H		RP11-1220K2.2		SNV							ENST00000550469	protein_coding			PROSITE_profiles:PS51448,hmmpanther:PTHR22762:SF55,hmmpanther:PTHR22762,Pfam_domain:PF00088,Gene3D:4.10.110.10,SMART_domains:SM00018,Superfamily_domains:SSF57492		P/H		A		221/7867				C9JNC2_HUMAN				RP11-1220K2.2,missense_variant,p.Pro56His,ENST00000477922,;RP11-1220K2.2,missense_variant,p.Pro56His,ENST00000550469,;							MODERATE	167/7548					Transcript		probably_damaging(0.998)	.	ENSP00000420449					1	
ARHGAP23	0	LGGM	GRCh37	17	36638331	36638331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	3	.	.	ENST00000431231.2:c.2698C>A	p.Pro900Thr	p.P900T	ENST00000431231	NM_001199417.1	900	Ccg/Acg	0	1	1	UPI0000F3BE51	0	NA	ENST00000431231		ENSG00000225485	29293		27	1.15		HGNC	p.P900T		ARHGAP23		SNV							ENST00000431231	protein_coding	getma.org/?cm=var&var=hg19,17,36638331,C,A&fts=all		Gene3D:1.10.555.10,hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5		P/T		A	low	2766/5964		getma.org/?cm=msa&ty=f&p=RHG23_HUMAN&rb=809&re=919&var=P900T	deleterious(0.04)	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN			YES	ARHGAP23,missense_variant,p.Pro806Thr,ENST00000443378,;ARHGAP23,missense_variant,p.Pro900Thr,ENST00000431231,NM_001199417.1;ARHGAP23,missense_variant,p.Pro900Thr,ENST00000437668,;ARHGAP23,missense_variant,p.Pro134Thr,ENST00000581782,;ARHGAP23,3_prime_UTR_variant,,ENST00000548333,;ARHGAP23,upstream_gene_variant,,ENST00000578665,;							MODERATE	2698/4476	P900T	RHG23_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000393539		CCDS56027.1			1	
KCNB2	0	LGGM	GRCh37	8	73848572	73848572	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	29	3	.	.	ENST00000523207.1:c.982C>A	p.Leu328Ile	p.L328I	ENST00000523207	NM_004770.2	328	Ctt/Att	0	1	1	UPI000012DC85	0	getma.org/pdb.php?prot=KCNB2_HUMAN&from=235&to=416&var=L328I	ENST00000523207		ENSG00000182674	6232		32	1.91		HGNC	p.L328I		KCNB2		SNV							ENST00000523207	protein_coding	getma.org/?cm=var&var=hg19,8,73848572,C,A&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Superfamily_domains:SSF81324		L/I		A	medium	1570/3582		getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=235&re=416&var=L328I	deleterious(0)				YES	KCNB2,missense_variant,p.Leu328Ile,ENST00000523207,NM_004770.2;							MODERATE	982/2736	L328I	KCNB2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000430846		CCDS6209.1			1	
HSD3B1	0	LGGM	GRCh37	1	120057162	120057162	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	33	3	.	.	ENST00000369413.3:c.1016C>A	p.Ala339Glu	p.A339E	ENST00000369413		339	gCg/gAg	0	1	1	UPI0000036BD2	0	NA	ENST00000369413		ENSG00000203857	5217		36	1.245		HGNC	p.A339E	rs761719743	HSD3B1		SNV							ENST00000369413	protein_coding	getma.org/?cm=var&var=hg19,1,120057162,C,A&fts=all		Gene3D:3.40.50.720,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF296,Superfamily_domains:SSF51735		A/E		A	low	1161/1676	1.50E-05	getma.org/?cm=msa&ty=f&p=3BHS1_HUMAN&rb=289&re=373&var=A339E	deleterious(0.03)	E9PRN7_HUMAN			YES	HSD3B1,missense_variant,p.Ala341Glu,ENST00000235547,NM_000862.2;HSD3B1,missense_variant,p.Ala339Glu,ENST00000369413,;HSD3B1,missense_variant,p.Ala339Glu,ENST00000528909,;HSD3B1,downstream_gene_variant,,ENST00000531340,;HSD3B1,downstream_gene_variant,,ENST00000492140,;							MODERATE	1016/1122	A339E	3BHS1_HUMAN			Transcript		benign(0.012)	.	ENSP00000358421	8.24E-06	CCDS903.1			1	
LRRK1	0	LGGM	GRCh37	15	101593135	101593135	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	4	3	.	.	ENST00000388948.3:c.3698T>A	p.Leu1233Gln	p.L1233Q	ENST00000388948	NM_024652.3	1233	cTg/cAg	0	1	1	UPI0000D4FE63	0	NA	ENST00000388948		ENSG00000154237	18608		7	0.895		HGNC	p.L1233Q		LRRK1		SNV							ENST00000388948	protein_coding	getma.org/?cm=var&var=hg19,15,101593135,T,A&fts=all				L/Q		A	low	4057/7671		getma.org/?cm=msa&ty=f&p=LRRK1_HUMAN&rb=1161&re=1242&var=L1233Q	deleterious(0.04)	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN			YES	LRRK1,missense_variant,p.Leu1230Gln,ENST00000284395,;LRRK1,missense_variant,p.Leu1233Gln,ENST00000388948,NM_024652.3;RP11-505E24.2,intron_variant,,ENST00000559857,;RP11-505E24.3,upstream_gene_variant,,ENST00000558979,;LRRK1,upstream_gene_variant,,ENST00000525395,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,upstream_gene_variant,,ENST00000526457,;							MODERATE	3698/6048	L1233Q	LRRK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000373600		CCDS42086.1			1	
HERC2	0	LGGM	GRCh37	15	28380826	28380826	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	3	.	.	ENST00000261609.7:c.12028G>T	p.Gly4010Trp	p.G4010W	ENST00000261609	NM_004667.5	4010	Ggg/Tgg	0	1	1	UPI00004578F7	0	getma.org/pdb.php?prot=HERC2_HUMAN&from=4003&to=4054&var=G4010W	ENST00000261609		ENSG00000128731	4868		27	3.85		HGNC	p.G4010W		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28380826,C,A&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Low_complexity_(Seg):seg,SMART_domains:SM00706,Superfamily_domains:SSF50985		G/W		A	high	12137/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=4003&re=4054&var=G4010W					YES	HERC2,missense_variant,p.Gly4010Trp,ENST00000261609,NM_004667.5;							MODERATE	12028/14505	G4010W	HERC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261609		CCDS10021.1			1	
KRTAP10-10	0	LGGM	GRCh37	21	46058043	46058043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	22	3	.	.	ENST00000380095.1:c.709C>A	p.Arg237Ser	p.R237S	ENST00000380095	NM_181688.1	237	Cgc/Agc	0	1	1	UPI00001A95B8	0	NA	ENST00000380095		ENSG00000221859	22972		25	2.405		HGNC	p.R237S		KRTAP10-10		SNV							ENST00000380095	protein_coding	getma.org/?cm=var&var=hg19,21,46058043,C,A&fts=all		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF40		R/S		A	medium	771/1098		getma.org/?cm=msa&ty=f&p=KR10A_HUMAN&rb=198&re=251&var=R237S	tolerated(0.05)				YES	KRTAP10-10,missense_variant,p.Arg237Ser,ENST00000380095,NM_181688.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;							MODERATE	709/756	R237S	KR10A_HUMAN			Transcript		possibly_damaging(0.731)	.	ENSP00000369438		CCDS33585.1			1	
CX3CL1	0	LGGM	GRCh37	16	57416930	57416930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	3	.	.	ENST00000006053.6:c.1180C>A	p.Leu394Met	p.L394M	ENST00000006053	NM_002996.3	394	Ctg/Atg	0	1	1	UPI0000040685	0	NA	ENST00000006053		ENSG00000006210	10647		17	1.1		HGNC	p.L394M		CX3CL1		SNV							ENST00000006053	protein_coding	getma.org/?cm=var&var=hg19,16,57416930,C,A&fts=all		Prints_domain:PR01721		L/M		A	low	1291/3321		getma.org/?cm=msa&ty=f&p=X3CL1_HUMAN&rb=101&re=395&var=L394M	deleterious(0.02)	J3QRA1_HUMAN,A0N0N7_HUMAN			YES	CX3CL1,missense_variant,p.Leu356Met,ENST00000565912,;CX3CL1,missense_variant,p.Leu394Met,ENST00000006053,NM_002996.3;CX3CL1,missense_variant,p.Leu400Met,ENST00000563383,;CX3CL1,downstream_gene_variant,,ENST00000564948,;							MODERATE	1180/1194	L394M	X3CL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000006053		CCDS10779.1			1	
FAM120C	0	LGGM	GRCh37	X	54161972	54161972	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	27	3	.	.	ENST00000375180.2:c.1324G>T	p.Gly442Ter	p.G442*	ENST00000375180	NM_017848.4	442	Gga/Tga	0	1	1	UPI000022DC3D	0	NA	ENST00000375180		ENSG00000184083	16949		30	0		HGNC	p.G442X		FAM120C		SNV							ENST00000328235	protein_coding	getma.org/?cm=var&var=hg19,X,54161972,C,A&fts=all		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF15		G/*		A	NA	1381/8057		NA					YES	FAM120C,stop_gained,p.Gly442Ter,ENST00000375180,NM_017848.4;FAM120C,stop_gained,p.Gly442Ter,ENST00000328235,;							HIGH	1324/3291	G442*	F120C_HUMAN			Transcript			.	ENSP00000364324		CCDS14356.1			1	
TNNT1	0	LGGM	GRCh37	19	55649440	55649440	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	3	.	.	ENST00000588981.1:c.390G>T	p.Glu130Asp	p.E130D	ENST00000588981	NM_003283.4	130	gaG/gaT	0	1	1	UPI000016A37B	0	NA	ENST00000588981		ENSG00000105048	11948		27	2.73		HGNC	p.E119D		TNNT1		SNV			1				ENST00000589226	protein_coding	getma.org/?cm=var&var=hg19,19,55649440,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11521:SF6,hmmpanther:PTHR11521,Pfam_domain:PF00992		E/D		A	medium	595/1163		getma.org/?cm=msa&ty=f&p=TNNT1_HUMAN&rb=69&re=211&var=E130D	tolerated(0.05)	Q56R94_HUMAN,M0QZU8_HUMAN			YES	TNNT1,missense_variant,p.Glu130Asp,ENST00000588981,NM_003283.4;TNNT1,missense_variant,p.Glu60Asp,ENST00000587465,;TNNT1,missense_variant,p.Glu119Asp,ENST00000587758,;TNNT1,missense_variant,p.Glu60Asp,ENST00000585321,;TNNT1,missense_variant,p.Glu130Asp,ENST00000291901,NM_001126132.1;TNNT1,missense_variant,p.Glu119Asp,ENST00000536926,;TNNT1,missense_variant,p.Glu119Asp,ENST00000356783,NM_001126133.1;TNNT1,missense_variant,p.Glu130Asp,ENST00000593046,;TNNT1,missense_variant,p.Glu78Asp,ENST00000593194,;TNNT1,missense_variant,p.Glu27Asp,ENST00000588426,;TNNT1,missense_variant,p.Glu119Asp,ENST00000589226,;TNNT1,missense_variant,p.Glu15Asp,ENST00000589745,;TNNT1,missense_variant,p.Glu126Asp,ENST00000588147,;TNNT1,upstream_gene_variant,,ENST00000586649,;TNNT1,splice_region_variant,,ENST00000592920,;TNNT1,splice_region_variant,,ENST00000587089,;							MODERATE	390/837	E130D	TNNT1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000467176		CCDS12917.1			1	
VPS13B	0	LGGM	GRCh37	8	100123326	100123326	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	43	3	.	.	ENST00000358544.2:c.581C>A	p.Ala194Glu	p.A194E	ENST00000358544	NM_017890.4	194	gCa/gAa	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		46	1.355		HGNC	p.A194E		VPS13B		SNV			1				ENST00000355155	protein_coding	getma.org/?cm=var&var=hg19,8,100123326,C,A&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		A/E		A	low	692/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=121&re=320&var=A194E	deleterious(0.01)				YES	VPS13B,missense_variant,p.Ala194Glu,ENST00000395996,;VPS13B,missense_variant,p.Ala194Glu,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Ala194Glu,ENST00000357162,NM_152564.4;VPS13B,missense_variant,p.Ala194Glu,ENST00000355155,NM_015243.2;VPS13B,missense_variant,p.Ala194Glu,ENST00000441350,NM_181661.2;VPS13B,intron_variant,,ENST00000524330,;VPS13B,missense_variant,p.Ala194Glu,ENST00000496144,;							MODERATE	581/12069	A194E	VP13B_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000351346		CCDS6280.1			1	
SCMH1	0	LGGM	GRCh37	1	41608652	41608652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	30	3	.	.	ENST00000402904.2:c.280G>T	p.Gly94Trp	p.G94W	ENST00000402904	NM_001031694.2	94	Ggg/Tgg	0	1		UPI000006FD9B	0	getma.org/pdb.php?prot=SCMH1_HUMAN&from=62&to=134&var=G94W	ENST00000326197		ENSG00000010803	19003		33	4.06		HGNC	p.G47W		SCMH1		SNV							ENST00000456518	protein_coding	getma.org/?cm=var&var=hg19,1,41608652,C,A&fts=all		PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748		G/W		A	high	580/3275		getma.org/?cm=msa&ty=f&p=SCMH1_HUMAN&rb=62&re=134&var=G94W	deleterious(0)					SCMH1,missense_variant,p.Gly94Trp,ENST00000402904,NM_001031694.2;SCMH1,missense_variant,p.Gly33Trp,ENST00000372596,NM_001172218.1;SCMH1,missense_variant,p.Gly74Trp,ENST00000397174,;SCMH1,missense_variant,p.Gly94Trp,ENST00000326197,;SCMH1,missense_variant,p.Gly47Trp,ENST00000372597,NM_012236.3,NM_001172220.1;SCMH1,missense_variant,p.Gly33Trp,ENST00000372595,NM_001172221.1;SCMH1,missense_variant,p.Gly33Trp,ENST00000397171,;SCMH1,missense_variant,p.Gly47Trp,ENST00000361705,;SCMH1,missense_variant,p.Gly104Trp,ENST00000337495,NM_001172219.1;SCMH1,missense_variant,p.Gly33Trp,ENST00000361191,;SCMH1,missense_variant,p.Gly47Trp,ENST00000456518,NM_001172222.1;							MODERATE	280/1983	G94W	SCMH1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318094		CCDS30688.1			1	
EBP	0	LGGM	GRCh37	X	48386721	48386721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	11	3	.	.	ENST00000495186.1:c.569T>C	p.Val190Ala	p.V190A	ENST00000495186	NM_006579.2	190	gTc/gCc	0	1	1	UPI000000DB82	0	NA	ENST00000495186		ENSG00000147155	3133		14	2.11		HGNC	p.V190A		EBP		SNV			1				ENST00000495186	protein_coding	getma.org/?cm=var&var=hg19,X,48386721,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR14207:SF0,hmmpanther:PTHR14207,Pfam_domain:PF05241		V/A		C	medium	1392/1775		getma.org/?cm=msa&ty=f&p=EBP_HUMAN&rb=31&re=221&var=V190A	deleterious(0)	C9JJ78_HUMAN,C9J719_HUMAN			YES	EBP,missense_variant,p.Val190Ala,ENST00000495186,NM_006579.2;EBP,downstream_gene_variant,,ENST00000446158,;EBP,downstream_gene_variant,,ENST00000414061,;EBP,non_coding_transcript_exon_variant,,ENST00000276096,;EBP,non_coding_transcript_exon_variant,,ENST00000498425,;EBP,downstream_gene_variant,,ENST00000466461,;							MODERATE	569/693	V190A	EBP_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000417052		CCDS14300.1			1	
COL4A1	0	LGGM	GRCh37	13	110804782	110804782	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	18	3	.	.	ENST00000375820.4:c.4827A>G	p.Arg1609=	p.R1609=	ENST00000375820	NM_001845.4	1609	agA/agG	0	1	1	UPI00001FCA8A	0		ENST00000375820		ENSG00000187498	2202		21			HGNC	p.R1609R		COL4A1		SNV			1				ENST00000375820	protein_coding			PROSITE_profiles:PS51403,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Gene3D:1t60D00,Pfam_domain:PF01413,SMART_domains:SM00111,Superfamily_domains:SSF56436		R		C		4949/6524				A9LSU1_HUMAN			YES	COL4A1,synonymous_variant,p.=,ENST00000375820,NM_001845.4;							LOW	4827/5010		CO4A1_HUMAN			Transcript			.	ENSP00000364979		CCDS9511.1			1	
ACOX2	0	LGGM	GRCh37	3	58519837	58519837	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	25	3	.	.	ENST00000302819.5:c.359G>T	p.Arg120Ile	p.R120I	ENST00000302819	NM_003500.3	120	aGa/aTa	0	1	1	UPI000000DC36	0	getma.org/pdb.php?prot=ACOX2_HUMAN&from=1&to=149&var=R120I	ENST00000302819		ENSG00000168306	120		28	0.755		HGNC	p.R120I		ACOX2		SNV							ENST00000459701	protein_coding	getma.org/?cm=var&var=hg19,3,58519837,C,A&fts=all		Gene3D:1.10.540.10,Pfam_domain:PF14749,PIRSF_domain:PIRSF000168,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF266,Superfamily_domains:SSF56645		R/I		A	neutral	651/2426		getma.org/?cm=msa&ty=f&p=ACOX2_HUMAN&rb=1&re=149&var=R120I	tolerated(0.4)	C9JY29_HUMAN,B4DPM1_HUMAN			YES	ACOX2,missense_variant,p.Arg120Ile,ENST00000302819,NM_003500.3;ACOX2,missense_variant,p.Arg120Ile,ENST00000459701,;ACOX2,missense_variant,p.Arg120Ile,ENST00000474098,;ACOX2,non_coding_transcript_exon_variant,,ENST00000475143,;ACOX2,3_prime_UTR_variant,,ENST00000492530,;ACOX2,upstream_gene_variant,,ENST00000489472,;ACOX2,downstream_gene_variant,,ENST00000466689,;ACOX2,downstream_gene_variant,,ENST00000480791,;ACOX2,upstream_gene_variant,,ENST00000459888,;ACOX2,upstream_gene_variant,,ENST00000466810,;							MODERATE	359/2046	R120I	ACOX2_HUMAN			Transcript		benign(0.007)	.	ENSP00000307697		CCDS33775.1			1	
SLC9A1	0	LGGM	GRCh37	1	27426851	27426851	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	13	3	.	.	ENST00000263980.3:c.2395G>T	p.Gly799Cys	p.G799C	ENST00000263980	NM_003047.4	799	Ggc/Tgc	0	1	1	UPI000012FD1B	0	NA	ENST00000263980		ENSG00000090020	11071		16	2.005		HGNC	p.G460C		SLC9A1		SNV							ENST00000545949	protein_coding	getma.org/?cm=var&var=hg19,1,27426851,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,Prints_domain:PR01085		G/C		A	medium	2971/4516		getma.org/?cm=msa&ty=f&p=SL9A1_HUMAN&rb=706&re=815&var=G799C	deleterious(0)	B4DTZ6_HUMAN,B1ALD5_HUMAN			YES	SLC9A1,missense_variant,p.Gly799Cys,ENST00000263980,NM_003047.4;SLC9A1,missense_variant,p.Gly460Cys,ENST00000545949,;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000447808,;							MODERATE	2395/2448	G799C	SL9A1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000263980		CCDS295.1			1	
CEP164	0	LGGM	GRCh37	11	117253561	117253561	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	30	3	.	.	ENST00000278935.3:c.1627C>A	p.His543Asn	p.H543N	ENST00000278935	NM_014956.4	543	Cat/Aat	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		33	0.895		HGNC	p.H517N		CEP164		SNV			1				ENST00000529538	protein_coding	getma.org/?cm=var&var=hg19,11,117253561,C,A&fts=all		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		H/N		A	low	1774/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=111&re=609&var=H543N	tolerated(0.46)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN			YES	CEP164,missense_variant,p.His543Asn,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000529153,;CEP164,intron_variant,,ENST00000533675,;CEP164,upstream_gene_variant,,ENST00000533223,;							MODERATE	1627/4383	H543N	CE164_HUMAN			Transcript		benign(0.36)	.	ENSP00000278935		CCDS31683.1			1	
PDCD6IP	0	LGGM	GRCh37	3	33907987	33907987	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	31	3	.	.	ENST00000457054.2:c.2592C>A	p.Pro864=	p.P864=	ENST00000457054	NM_013374.5	864	ccC/ccA	0	1		UPI00000709A6	0		ENST00000307296		ENSG00000170248	8766		34			HGNC	p.P864P		PDCD6IP		SNV							ENST00000457054	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23030,hmmpanther:PTHR23030:SF19		P		A		2954/6161								PDCD6IP,synonymous_variant,p.=,ENST00000307296,;PDCD6IP,synonymous_variant,p.=,ENST00000457054,NM_013374.5,NM_001162429.2;PDCD6IP,downstream_gene_variant,,ENST00000465122,;PDCD6IP,downstream_gene_variant,,ENST00000489869,;PDCD6IP,downstream_gene_variant,,ENST00000473593,;							LOW	2577/2607		PDC6I_HUMAN			Transcript			.	ENSP00000307387		CCDS2660.1			1	
NEMF	0	LGGM	GRCh37	14	50298927	50298927	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	42	3	.	.	ENST00000298310.5:c.804G>T	p.Leu268=	p.L268=	ENST00000298310		268	ctG/ctT	0	1	1	UPI0000246D16	0		ENST00000298310		ENSG00000165525	10663		45			HGNC	p.L226L		NEMF		SNV							ENST00000545773	protein_coding			Pfam_domain:PF05833,hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1		L		A		1254/5038							YES	NEMF,splice_region_variant,p.=,ENST00000298310,;NEMF,splice_region_variant,p.=,ENST00000545773,NM_004713.3;NEMF,splice_region_variant,p.=,ENST00000546046,;NEMF,splice_region_variant,p.=,ENST00000555970,;NEMF,downstream_gene_variant,,ENST00000554626,;AL627171.1,downstream_gene_variant,,ENST00000358799,;NEMF,splice_region_variant,,ENST00000556925,;NEMF,splice_region_variant,,ENST00000557380,;NEMF,upstream_gene_variant,,ENST00000553696,;NEMF,upstream_gene_variant,,ENST00000556882,;							LOW	804/3231		NEMF_HUMAN			Transcript			.	ENSP00000298310		CCDS9694.1			1	
TNS4	0	LGGM	GRCh37	17	38641201	38641201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	28	3	.	.	ENST00000254051.6:c.1347G>T	p.Trp449Cys	p.W449C	ENST00000254051	NM_032865.5	449	tgG/tgT	0	1	1	UPI000013CE0F	0	getma.org/pdb.php?prot=TENS4_HUMAN&from=449&to=541&var=W449C	ENST00000254051		ENSG00000131746	24352		31	4.52		HGNC	p.W449C		TNS4		SNV							ENST00000254051	protein_coding	getma.org/?cm=var&var=hg19,17,38641201,C,A&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF20,SMART_domains:SM00252,Superfamily_domains:SSF55550		W/C		A	high	1506/4067		getma.org/?cm=msa&ty=f&p=TENS4_HUMAN&rb=449&re=541&var=W449C	deleterious(0)				YES	TNS4,missense_variant,p.Trp449Cys,ENST00000254051,NM_032865.5;TNS4,upstream_gene_variant,,ENST00000394072,;TNS4,upstream_gene_variant,,ENST00000497303,;							MODERATE	1347/2148	W449C	TENS4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254051		CCDS11368.1			1	
ARSG	0	LGGM	GRCh37	17	66364873	66364873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	43	3	.	.	ENST00000448504.2:c.889C>A	p.Leu297Ile	p.L297I	ENST00000448504	NM_014960.4	297	Ctc/Atc	0	1	1	UPI000003FD81	0	getma.org/pdb.php?prot=ARSG_HUMAN&from=36&to=467&var=L297I	ENST00000448504		ENSG00000141337	24102		46	-0.695		HGNC	p.L297I		ARSG		SNV							ENST00000448504	protein_coding	getma.org/?cm=var&var=hg19,17,66364873,C,A&fts=all		Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF186		L/I		A	neutral	1685/4642		getma.org/?cm=msa&ty=f&p=ARSG_HUMAN&rb=36&re=467&var=L297I	tolerated(1)	J9JIG6_HUMAN,J3KS49_HUMAN			YES	ARSG,missense_variant,p.Leu297Ile,ENST00000448504,NM_014960.4;ARSG,missense_variant,p.Leu133Ile,ENST00000452479,NM_001267727.1;ARSG,non_coding_transcript_exon_variant,,ENST00000582154,;							MODERATE	889/1578	L297I	ARSG_HUMAN			Transcript		benign(0.005)	.	ENSP00000407193		CCDS11676.1			1	
EIF5B	0	LGGM	GRCh37	2	100011296	100011296	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	26	3	.	.	ENST00000289371.6:c.3204C>A	p.Ala1068=	p.A1068=	ENST00000289371	NM_015904.3	1068	gcC/gcA	0	1	1	UPI0000207EC7	0		ENST00000289371		ENSG00000158417	30793		29			HGNC	p.A1068A		EIF5B		SNV							ENST00000289371	protein_coding			Superfamily_domains:0037976,Pfam_domain:PF11987,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF99		A		A		3406/5777				D3DVI5_HUMAN			YES	EIF5B,synonymous_variant,p.=,ENST00000289371,NM_015904.3;EIF5B,non_coding_transcript_exon_variant,,ENST00000494190,;EIF5B,upstream_gene_variant,,ENST00000470023,;EIF5B,downstream_gene_variant,,ENST00000470868,;							LOW	3204/3663		IF2P_HUMAN			Transcript			.	ENSP00000289371		CCDS42721.1			1	
XRCC2	0	LGGM	GRCh37	7	152357849	152357849	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	23	3	.	.	ENST00000359321.1:c.58G>T	p.Gly20Cys	p.G20C	ENST00000359321	NM_005431.1	20	Ggt/Tgt	0	1	1	UPI000000D9C8	0	NA	ENST00000359321		ENSG00000196584	12829		26	1.795		HGNC	p.G20C		XRCC2		SNV			1				ENST00000359321	protein_coding	getma.org/?cm=var&var=hg19,7,152357849,C,A&fts=all		PROSITE_profiles:PS50162		G/C		A	low	144/3067		getma.org/?cm=msa&ty=f&p=XRCC2_HUMAN&rb=1&re=38&var=G20C	deleterious(0)				YES	XRCC2,missense_variant,p.Gly20Cys,ENST00000359321,NM_005431.1;XRCC2,non_coding_transcript_exon_variant,,ENST00000495707,;							MODERATE	58/843	G20C	XRCC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352271		CCDS5933.1			1	
KAT2B	0	LGGM	GRCh37	3	20153158	20153158	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	35	3	.	.	ENST00000263754.4:c.922G>T	p.Gly308Trp	p.G308W	ENST00000263754	NM_003884.4	308	Ggg/Tgg	0	1	1	UPI00002132DE	0	NA	ENST00000263754		ENSG00000114166	8638		38	2.69		HGNC	p.G308W		KAT2B		SNV							ENST00000263754	protein_coding	getma.org/?cm=var&var=hg19,3,20153158,G,T&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,Pfam_domain:PF06466,PIRSF_domain:PIRSF003048		G/W		T	medium	1377/4833		getma.org/?cm=msa&ty=f&p=KAT2B_HUMAN&rb=74&re=327&var=G308W	deleterious(0)				YES	KAT2B,missense_variant,p.Gly308Trp,ENST00000263754,NM_003884.4;KAT2B,intron_variant,,ENST00000469085,;							MODERATE	922/2499	G308W	KAT2B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263754		CCDS2634.1			1	
PIWIL2	0	LGGM	GRCh37	8	22167523	22167523	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	32	3	.	.	ENST00000356766.6:c.1736C>A	p.Ser579Ter	p.S579*	ENST00000356766	NM_018068.3	579	tCg/tAg	0	1	1	UPI000006E98E	0	NA	ENST00000356766		ENSG00000197181	17644		35	0		HGNC	p.S579X		PIWIL2		SNV							ENST00000454009	protein_coding	getma.org/?cm=var&var=hg19,8,22167523,C,A&fts=all		Superfamily_domains:SSF53098,Gene3D:3.40.50.2300,hmmpanther:PTHR22892:SF30,hmmpanther:PTHR22892		S/*		A	NA	1884/5128		NA					YES	PIWIL2,stop_gained,p.Ser579Ter,ENST00000356766,NM_018068.3;PIWIL2,stop_gained,p.Ser579Ter,ENST00000521356,;PIWIL2,stop_gained,p.Ser579Ter,ENST00000454009,NM_001135721.1;							HIGH	1736/2922	S579*	PIWL2_HUMAN			Transcript			.	ENSP00000349208		CCDS6029.1			1	
SCN4A	0	LGGM	GRCh37	17	62018971	62018971	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	35	3	.	.	ENST00000435607.1:c.4671G>T	p.Leu1557=	p.L1557=	ENST00000435607	NM_000334.4	1557	ctG/ctT	0	1	1	UPI0000201254	0		ENST00000435607		ENSG00000007314	10591		38			HGNC	p.L1557L		SCN4A		SNV			1				ENST00000435607	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520		L		A		4748/7805				Q9H3L9_HUMAN			YES	SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;SCN4A,synonymous_variant,p.=,ENST00000578147,;							LOW	4671/5511		SCN4A_HUMAN			Transcript			.	ENSP00000396320		CCDS45761.1			1	
TPO	0	LGGM	GRCh37	2	1497622	1497622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	15	3	.	.	ENST00000345913.4:c.1817C>A	p.Pro606His	p.P606H	ENST00000345913	NM_000547.5	606	cCc/cAc	0	1		UPI000013D480	0	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=P606H	ENST00000329066		ENSG00000115705	12015		18	1.01		HGNC	p.P606H		TPO		SNV			1				ENST00000345913	protein_coding	getma.org/?cm=var&var=hg19,2,1497622,C,A&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		P/H		A	low	1900/3138		getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=P606H	tolerated(0.55)	Q53QT2_HUMAN,C9J511_HUMAN				TPO,missense_variant,p.Pro535His,ENST00000422464,;TPO,missense_variant,p.Pro606His,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Pro606His,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Pro606His,ENST00000337415,;TPO,missense_variant,p.Pro606His,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Pro549His,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Pro433His,ENST00000349624,;TPO,missense_variant,p.Pro433His,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Pro81His,ENST00000446278,;TPO,missense_variant,p.Pro80His,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;							MODERATE	1817/2802	P606H	PERT_HUMAN			Transcript		benign(0.03)	.	ENSP00000329869		CCDS1643.1			1	
SART3	0	LGGM	GRCh37	12	108954861	108954861	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	28	3	.	.	ENST00000228284.3:c.70G>T	p.Gly24Ter	p.G24*	ENST00000228284	NM_014706.3	24	Gga/Tga	0	1	1	UPI000006D72B	0	NA	ENST00000228284		ENSG00000075856	16860		31	0		HGNC	p.G24X		SART3		SNV			1				ENST00000546815	protein_coding	getma.org/?cm=var&var=hg19,12,108954861,C,A&fts=all				G/*		A	NA	305/4004		NA		H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN			YES	SART3,stop_gained,p.Gly24Ter,ENST00000228284,NM_014706.3;SART3,stop_gained,p.Gly24Ter,ENST00000431469,;SART3,stop_gained,p.Gly24Ter,ENST00000546815,;SART3,stop_gained,p.Gly24Ter,ENST00000546611,;ISCU,upstream_gene_variant,,ENST00000535729,;ISCU,upstream_gene_variant,,ENST00000338291,;ISCU,upstream_gene_variant,,ENST00000539593,;ISCU,upstream_gene_variant,,ENST00000392807,NM_014301.3;ISCU,upstream_gene_variant,,ENST00000311893,NM_213595.2;ISCU,upstream_gene_variant,,ENST00000431221,;ISCU,upstream_gene_variant,,ENST00000547005,;SART3,non_coding_transcript_exon_variant,,ENST00000552221,;SART3,stop_gained,p.Gly24Ter,ENST00000546728,;SART3,stop_gained,p.Gly24Ter,ENST00000547528,;ISCU,upstream_gene_variant,,ENST00000545932,;ISCU,upstream_gene_variant,,ENST00000539580,;ISCU,upstream_gene_variant,,ENST00000535405,;ISCU,upstream_gene_variant,,ENST00000552072,;ISCU,upstream_gene_variant,,ENST00000544493,;							HIGH	70/2892	G24*	SART3_HUMAN			Transcript			.	ENSP00000228284		CCDS9117.1			1	
CHD8	0	LGGM	GRCh37	14	21899313	21899313	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	15	3	.	.	ENST00000399982.2:c.490G>T	p.Ala164Ser	p.A164S	ENST00000399982	NM_001170629.1	164	Gcc/Tcc	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		18	0.55		HGNC	p.A139S		CHD8		SNV			1				ENST00000553622	protein_coding	getma.org/?cm=var&var=hg19,14,21899313,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551		A/S		A	neutral	555/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1&re=488&var=A164S	deleterious_low_confidence(0.05)				YES	CHD8,missense_variant,p.Ala164Ser,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Ala164Ser,ENST00000557364,;CHD8,missense_variant,p.Ala139Ser,ENST00000553622,;CHD8,intron_variant,,ENST00000430710,NM_020920.3;CHD8,intron_variant,,ENST00000553283,;RN7SL650P,upstream_gene_variant,,ENST00000583681,;CHD8,intron_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,downstream_gene_variant,,ENST00000553651,;							MODERATE	490/7746	A164S	CHD8_HUMAN			Transcript		benign(0.025)	.	ENSP00000382863		CCDS53885.1			1	
SPTAN1	0	LGGM	GRCh37	9	131351177	131351177	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	21	3	.	.	ENST00000372739.3:c.2961C>A	p.Thr987=	p.T987=	ENST00000372739	NM_001130438.2	987	acC/acA	0	1		UPI000022DA2E	0		ENST00000372731		ENSG00000197694	11273		24			HGNC	p.T987T		SPTAN1		SNV			1				ENST00000372731	protein_coding			Gene3D:2.30.30.40,Pfam_domain:PF00018,Prints_domain:PR00452,Prints_domain:PR01887,PROSITE_profiles:PS50002,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF250,SMART_domains:SM00150,SMART_domains:SM00326,Superfamily_domains:SSF50044		T		A		3071/7857								SPTAN1,synonymous_variant,p.=,ENST00000358161,;SPTAN1,synonymous_variant,p.=,ENST00000372739,NM_001130438.2;SPTAN1,synonymous_variant,p.=,ENST00000372731,NM_003127.3,NM_001195532.1;SPTAN1,upstream_gene_variant,,ENST00000475367,;							LOW	2961/7419		SPTN1_HUMAN			Transcript			.	ENSP00000361816		CCDS6905.1			1	
DRD2	0	LGGM	GRCh37	11	113295304	113295304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	23	3	.	.	ENST00000362072.3:c.70G>T	p.Gly24Trp	p.G24W	ENST00000362072	NM_000795.3	24	Ggg/Tgg	0	1	1	UPI0000001315	0	NA	ENST00000362072		ENSG00000149295	3023		26	0.345		HGNC	p.G24W		DRD2		SNV			1				ENST00000544518	protein_coding	getma.org/?cm=var&var=hg19,11,113295304,C,A&fts=all		hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF68,Superfamily_domains:SSF81321		G/W		A	neutral	415/2789		getma.org/?cm=msa&ty=f&p=DRD2_HUMAN&rb=1&re=50&var=G24W	deleterious(0)	Q6LDH7_HUMAN			YES	DRD2,missense_variant,p.Gly24Trp,ENST00000362072,NM_000795.3;DRD2,missense_variant,p.Gly24Trp,ENST00000355319,;DRD2,missense_variant,p.Gly24Trp,ENST00000544518,;DRD2,missense_variant,p.Gly24Trp,ENST00000542968,;DRD2,missense_variant,p.Gly24Trp,ENST00000346454,NM_016574.3;DRD2,missense_variant,p.Gly24Trp,ENST00000538967,;DRD2,missense_variant,p.Gly24Trp,ENST00000543292,;DRD2,downstream_gene_variant,,ENST00000542616,;DRD2,upstream_gene_variant,,ENST00000535984,;DRD2,non_coding_transcript_exon_variant,,ENST00000540600,;							MODERATE	70/1332	G24W	DRD2_HUMAN			Transcript		benign(0.056)	.	ENSP00000354859		CCDS8361.1			1	
OBP2B	0	LGGM	GRCh37	9	136081314	136081314	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	43	3	.	.	ENST00000372034.3:c.504C>A	p.Pro168=	p.P168=	ENST00000372034	NM_014581.2	168	ccC/ccA	0	1	1	UPI00000377BC	0		ENST00000372034		ENSG00000171102	23381		46			HGNC	p.P168P	COSM607842	OBP2B		SNV						1	ENST00000372034	protein_coding			hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF6		P		T		546/691							YES	OBP2B,synonymous_variant,p.=,ENST00000372034,NM_014581.2;OBP2B,3_prime_UTR_variant,,ENST00000372032,;OBP2B,non_coding_transcript_exon_variant,,ENST00000461961,;OBP2B,3_prime_UTR_variant,,ENST00000473737,;					1		LOW	504/513		OBP2B_HUMAN			Transcript			.	ENSP00000361104		CCDS6961.1			1	
MAN2C1	0	LGGM	GRCh37	15	75656867	75656867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	2	3	.	.	ENST00000565683.1:c.562C>A	p.Leu188Ile	p.L188I	ENST00000565683	NM_001256494.1	188	Ctc/Atc	0	1		UPI000012EAC8	0	NA	ENST00000267978		ENSG00000140400	6827		5	3.085		HGNC	p.L146I		MAN2C1		SNV							ENST00000568374	protein_coding	getma.org/?cm=var&var=hg19,15,75656867,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607		L/I		T	medium	609/3284		getma.org/?cm=msa&ty=f&p=MA2C1_HUMAN&rb=1&re=200&var=L188I	deleterious(0)	H3BRV3_HUMAN				MAN2C1,missense_variant,p.Leu188Ile,ENST00000565683,NM_001256494.1;MAN2C1,missense_variant,p.Leu188Ile,ENST00000267978,NM_006715.3;MAN2C1,missense_variant,p.Leu188Ile,ENST00000569482,NM_001256495.1;MAN2C1,missense_variant,p.Leu188Ile,ENST00000563622,NM_001256496.1;MAN2C1,missense_variant,p.Leu175Ile,ENST00000566256,;MAN2C1,missense_variant,p.Leu146Ile,ENST00000568374,;SIN3A,downstream_gene_variant,,ENST00000394947,NM_001145358.1;MAN2C1,downstream_gene_variant,,ENST00000561615,;RP11-817O13.8,upstream_gene_variant,,ENST00000563278,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563539,;MAN2C1,upstream_gene_variant,,ENST00000566253,;MAN2C1,missense_variant,p.Leu188Ile,ENST00000421803,;MAN2C1,missense_variant,p.Leu71Ile,ENST00000570257,;MAN2C1,3_prime_UTR_variant,,ENST00000569355,;MAN2C1,3_prime_UTR_variant,,ENST00000562071,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565534,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565699,;MAN2C1,intron_variant,,ENST00000566634,;MAN2C1,intron_variant,,ENST00000565784,;MAN2C1,upstream_gene_variant,,ENST00000564785,;MAN2C1,upstream_gene_variant,,ENST00000567163,;MAN2C1,upstream_gene_variant,,ENST00000569176,;MAN2C1,upstream_gene_variant,,ENST00000563013,;MAN2C1,upstream_gene_variant,,ENST00000563794,;MAN2C1,upstream_gene_variant,,ENST00000566013,;MAN2C1,upstream_gene_variant,,ENST00000563368,;MAN2C1,upstream_gene_variant,,ENST00000562228,;MAN2C1,upstream_gene_variant,,ENST00000565801,;MAN2C1,downstream_gene_variant,,ENST00000565652,;MAN2C1,upstream_gene_variant,,ENST00000563596,;MAN2C1,upstream_gene_variant,,ENST00000563058,;MAN2C1,upstream_gene_variant,,ENST00000568944,;MAN2C1,upstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000569069,;MAN2C1,upstream_gene_variant,,ENST00000565953,;							MODERATE	562/3123	L188I	MA2C1_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000267978		CCDS32298.1			1	
ITPR3	0	LGGM	GRCh37	6	33634928	33634928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	41	3	.	.	ENST00000374316.5:c.1574C>A	p.Pro525Gln	p.P525Q	ENST00000374316		525	cCg/cAg	0	1	1	UPI000013CB74	0	getma.org/pdb.php?prot=ITPR3_HUMAN&from=471&to=677&var=P525Q	ENST00000374316		ENSG00000096433	6182		44	3.235		HGNC	p.P525Q		ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33634928,C,A&fts=all		Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		P/Q		A	medium	2634/9870		getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=471&re=677&var=P525Q	deleterious(0)	A6H8K3_HUMAN			YES	ITPR3,missense_variant,p.Pro525Gln,ENST00000374316,;ITPR3,missense_variant,p.Pro525Gln,ENST00000605930,NM_002224.3;							MODERATE	1574/8016	P525Q	ITPR3_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000363435		CCDS4783.1			1	
ATXN1	0	LGGM	GRCh37	6	16328276	16328276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	39	3	.	.	ENST00000244769.4:c.266C>A	p.Pro89Gln	p.P89Q	ENST00000244769	NM_000332.3	89	cCg/cAg	0	1	1	UPI000013CB8B	0	NA	ENST00000244769		ENSG00000124788	10548		42	2.25		HGNC	p.P89Q	COSM1442134	ATXN1		SNV			1			1	ENST00000450222	protein_coding	getma.org/?cm=var&var=hg19,6,16328276,G,T&fts=all		hmmpanther:PTHR13392:SF5,hmmpanther:PTHR13392,Low_complexity_(Seg):seg		P/Q		T	medium	1203/10602		getma.org/?cm=msa&ty=f&p=ATX1_HUMAN&rb=1&re=159&var=P89Q	deleterious(0.04)				YES	ATXN1,missense_variant,p.Pro89Gln,ENST00000244769,NM_000332.3;ATXN1,missense_variant,p.Pro89Gln,ENST00000436367,NM_001128164.1;					1		MODERATE	266/2448	P89Q	ATX1_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000244769		CCDS34342.1			1	
HYOU1	0	LGGM	GRCh37	11	118918996	118918996	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	28	3	.	.	ENST00000404233.3:c.2340C>A	p.Thr780=	p.T780=	ENST00000404233	NM_001130991.1	780	acC/acA	0	1	1	UPI0000130F72	0		ENST00000404233		ENSG00000149428	16931		31			HGNC	p.T718T		HYOU1		SNV							ENST00000525859	protein_coding			hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375,Gene3D:1.20.1270.10,Pfam_domain:PF00012,Superfamily_domains:SSF100934		T		T		2465/4530				J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN			YES	HYOU1,synonymous_variant,p.=,ENST00000404233,NM_001130991.1,NM_006389.3;HYOU1,synonymous_variant,p.=,ENST00000529972,;HYOU1,synonymous_variant,p.=,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,;							LOW	2340/3000		HYOU1_HUMAN			Transcript			.	ENSP00000384144		CCDS8408.1			1	
TMEM8C	0	LGGM	GRCh37	9	136380615	136380615	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	21	3	.	.	ENST00000339996.3:c.514G>T	p.Glu172Ter	p.E172*	ENST00000339996	NM_001080483.2	172	Gag/Tag	0	1	1	UPI00003676C5	0	NA	ENST00000339996		ENSG00000187616	33778		24	0		HGNC	p.E172X		TMEM8C		SNV							ENST00000339996	protein_coding	getma.org/?cm=var&var=hg19,9,136380615,C,A&fts=all		Pfam_domain:PF12036,hmmpanther:PTHR14319:SF5,hmmpanther:PTHR14319		E/*		A	NA	616/818		NA					YES	TMEM8C,stop_gained,p.Glu172Ter,ENST00000339996,NM_001080483.2;TMEM8C,downstream_gene_variant,,ENST00000413714,;							HIGH	514/666	E172*	TMM8C_HUMAN			Transcript			.	ENSP00000419712		CCDS35170.1			1	
SPSB1	0	LGGM	GRCh37	1	9416194	9416194	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	26	3	.	.	ENST00000328089.6:c.244C>A	p.Gln82Lys	p.Q82K	ENST00000328089	NM_025106.3	82	Cag/Aag	0	1	1	UPI000006D00B	0	getma.org/pdb.php?prot=SPSB1_HUMAN&from=33&to=231&var=Q82K	ENST00000328089		ENSG00000171621	30628		29	2.84		HGNC	p.Q82K		SPSB1		SNV							ENST00000450402	protein_coding	getma.org/?cm=var&var=hg19,1,9416194,C,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR12245,hmmpanther:PTHR12245:SF8,Superfamily_domains:SSF49899		Q/K		A	medium	585/3120		getma.org/?cm=msa&ty=f&p=SPSB1_HUMAN&rb=33&re=231&var=Q82K	deleterious(0)	A2A276_HUMAN			YES	SPSB1,missense_variant,p.Gln82Lys,ENST00000328089,NM_025106.3;SPSB1,missense_variant,p.Gln82Lys,ENST00000357898,;SPSB1,missense_variant,p.Gln82Lys,ENST00000377399,;SPSB1,missense_variant,p.Gln82Lys,ENST00000450402,;							MODERATE	244/822	Q82K	SPSB1_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000330221		CCDS102.1			1	
TAF11	0	LGGM	GRCh37	6	34846476	34846476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	32	3	.	.	ENST00000361288.4:c.527G>T	p.Trp176Leu	p.W176L	ENST00000361288	NM_005643.3	176	tGg/tTg	0	1	1	UPI000000106D	0	getma.org/pdb.php?prot=TAF11_HUMAN&from=106&to=194&var=W176L	ENST00000361288		ENSG00000064995	11544		35	1.7		HGNC	p.W176L		TAF11		SNV							ENST00000361288	protein_coding	getma.org/?cm=var&var=hg19,6,34846476,C,A&fts=all		hmmpanther:PTHR13218,Gene3D:1.10.20.10,Pfam_domain:PF04719,Superfamily_domains:SSF47113		W/L		A	low	659/1580		getma.org/?cm=msa&ty=f&p=TAF11_HUMAN&rb=106&re=194&var=W176L	tolerated(0.1)				YES	TAF11,missense_variant,p.Trp176Leu,ENST00000361288,NM_005643.3;TAF11,missense_variant,p.Gly144Trp,ENST00000420584,NM_001270488.1;UHRF1BP1,intron_variant,,ENST00000452449,;UHRF1BP1,downstream_gene_variant,,ENST00000192788,NM_017754.3;							MODERATE	527/636	W176L	TAF11_HUMAN			Transcript		possibly_damaging(0.449)	.	ENSP00000354633		CCDS4797.1			1	
FRMPD3	0	LGGM	GRCh37	X	106846196	106846196	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	21	3	.	.	ENST00000276185.4:c.5026C>A	p.Arg1676Ser	p.R1676S	ENST00000276185		1676	Cgc/Agc	0	1	1	UPI00006C1C33	0	NA	ENST00000276185		ENSG00000147234	29382		24	1.795		HGNC	p.R1676S		FRMPD3		SNV							ENST00000276185	protein_coding	getma.org/?cm=var&var=hg19,X,106846196,C,A&fts=all		hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6		R/S		A	low	5026/5433		getma.org/?cm=msa&ty=f&p=FRPD3_HUMAN&rb=1521&re=1809&var=R1676S	deleterious(0.01)				YES	FRMPD3,missense_variant,p.Arg1624Ser,ENST00000439554,NM_032428.1;FRMPD3,missense_variant,p.Arg1676Ser,ENST00000276185,;							MODERATE	5026/5433	R1676S	FRPD3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000276185					1	
FST	0	LGGM	GRCh37	5	52780901	52780901	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	28	3	.	.	ENST00000256759.3:c.796C>A	p.Arg266=	p.R266=	ENST00000256759	NM_013409.2	266	Cgg/Agg	0	1	1	UPI000012AC56	0		ENST00000256759		ENSG00000134363	3971		31			HGNC	p.R137R		FST		SNV							ENST00000504226	protein_coding			Gene3D:3.30.60.30,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF6,SMART_domains:SM00274,SMART_domains:SM00280,Superfamily_domains:SSF100895		R		A		1179/2519							YES	FST,synonymous_variant,p.=,ENST00000396947,NM_006350.3;FST,synonymous_variant,p.=,ENST00000256759,NM_013409.2;FST,synonymous_variant,p.=,ENST00000497789,;FST,synonymous_variant,p.=,ENST00000504226,;FST,downstream_gene_variant,,ENST00000491717,;							LOW	796/1035		FST_HUMAN			Transcript			.	ENSP00000256759		CCDS3959.1			1	
SREBF2	0	LGGM	GRCh37	22	42263120	42263120	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	36	3	.	.	ENST00000361204.4:c.374C>A	p.Pro125His	p.P125H	ENST00000361204	NM_004599.3	125	cCc/cAc	0	1	1	UPI00001678D0	0	NA	ENST00000361204		ENSG00000198911	11290		39	0		HGNC	p.P125H		SREBF2		SNV							ENST00000361204	protein_coding	getma.org/?cm=var&var=hg19,22,42263120,C,A&fts=all		hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565		P/H		A	neutral	540/5240		getma.org/?cm=msa&ty=f&p=SRBP2_HUMAN&rb=82&re=281&var=P125H	tolerated(0.1)	Q8NCY3_HUMAN			YES	SREBF2,missense_variant,p.Pro125His,ENST00000361204,NM_004599.3;SREBF2,missense_variant,p.Pro125His,ENST00000424354,;							MODERATE	374/3426	P125H	SRBP2_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000354476		CCDS14023.1			1	
IMPG2	0	LGGM	GRCh37	3	100976616	100976616	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	39	3	.	.	ENST00000193391.7:c.910G>T	p.Gly304Cys	p.G304C	ENST00000193391	NM_016247.3	304	Ggc/Tgc	0	1	1	UPI000013C605	0	NA	ENST00000193391		ENSG00000081148	18362		42	2.045		HGNC	p.G304C		IMPG2		SNV			1				ENST00000193391	protein_coding	getma.org/?cm=var&var=hg19,3,100976616,C,A&fts=all		PROSITE_profiles:PS50024,hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199,Pfam_domain:PF01390,Gene3D:1ivzA00,SMART_domains:SM00200,Superfamily_domains:0047452		G/C		A	medium	1098/8337		getma.org/?cm=msa&ty=f&p=IMPG2_HUMAN&rb=238&re=344&var=G304C	deleterious(0)	F1T0J3_HUMAN			YES	IMPG2,missense_variant,p.Gly304Cys,ENST00000193391,NM_016247.3;							MODERATE	910/3726	G304C	IMPG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000193391		CCDS2940.1			1	
RB1	0	LGGM	GRCh37	13	48954351	48954351	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	3	3	.	.	ENST00000267163.4:c.1472T>C	p.Leu491Pro	p.L491P	ENST00000267163	NM_000321.2	491	cTt/cCt	0	1	1	UPI0000001C79	0	getma.org/pdb.php?prot=RB_HUMAN&from=373&to=573&var=L491P	ENST00000267163	pathogenic	ENSG00000139687	9884		6	2.2		HGNC	p.L491P	rs587778848	RB1		SNV			1			1	ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48954351,T,C&fts=all		hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954		L/P		C	medium	1610/4840		getma.org/?cm=msa&ty=f&p=RB_HUMAN&rb=373&re=573&var=L491P	deleterious(0.02)	Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,missense_variant,p.Leu491Pro,ENST00000267163,NM_000321.2;							MODERATE	1472/2787	L491P	RB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000267163		CCDS31973.1			1	
APOBEC3B	0	LGGM	GRCh37	22	39387477	39387477	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	43	4	.	.	ENST00000333467.3:c.864C>A	p.Gly288=	p.G288=	ENST00000333467	NM_004900.4	288	ggC/ggA	0	1	1	UPI00001318FE	0		ENST00000333467		ENSG00000179750	17352		47			HGNC	p.A237D		APOBEC3B		SNV							ENST00000335760	protein_coding			PROSITE_patterns:PS00903,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF21,Superfamily_domains:SSF53927		G		A		909/1533							YES	APOBEC3B,synonymous_variant,p.=,ENST00000402182,;APOBEC3B,synonymous_variant,p.=,ENST00000333467,NM_004900.4,NM_001270411.1;APOBEC3B,synonymous_variant,p.=,ENST00000407298,;APOBEC3B-AS1,downstream_gene_variant,,ENST00000513758,;APOBEC3B,missense_variant,p.Ala237Asp,ENST00000335760,;							LOW	864/1149		ABC3B_HUMAN			Transcript			.	ENSP00000327459		CCDS13982.1			1	
IL1RAPL2	0	LGGM	GRCh37	X	105011580	105011580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	81	4	.	.	ENST00000372582.1:c.1987C>A	p.Gln663Lys	p.Q663K	ENST00000372582	NM_017416.1	663	Cag/Aag	0	1	1	UPI0000073DF7	0	NA	ENST00000372582		ENSG00000189108	5997		85	0.55		HGNC	p.Q663K		IL1RAPL2		SNV							ENST00000372582	protein_coding	getma.org/?cm=var&var=hg19,X,105011580,C,A&fts=all				Q/K		A	neutral	2743/2985		getma.org/?cm=msa&ty=f&p=IRPL2_HUMAN&rb=556&re=686&var=Q663K	tolerated_low_confidence(0.65)				YES	IL1RAPL2,missense_variant,p.Gln663Lys,ENST00000372582,NM_017416.1;IL1RAPL2,missense_variant,p.Gln663Lys,ENST00000344799,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;							MODERATE	1987/2061	Q663K	IRPL2_HUMAN			Transcript		benign(0.001)	.	ENSP00000361663		CCDS14517.1			1	
HSCB	0	LGGM	GRCh37	22	29147252	29147252	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	4	4	.	.	ENST00000216027.3:c.592A>T	p.Asn198Tyr	p.N198Y	ENST00000216027	NM_172002.3	198	Aat/Tat	0	1	1	UPI000013C6B6	0	getma.org/pdb.php?prot=HSC20_HUMAN&from=156&to=230&var=N198Y	ENST00000216027		ENSG00000100209	28913		8	1.245		HGNC	p.N198Y		HSCB		SNV							ENST00000216027	protein_coding	getma.org/?cm=var&var=hg19,22,29147252,A,T&fts=all		HAMAP:MF_00682,hmmpanther:PTHR14021,hmmpanther:PTHR14021:SF11,TIGRFAM_domain:TIGR00714,Pfam_domain:PF07743,Gene3D:1.20.1280.20,Superfamily_domains:0037730		N/Y		T	low	657/1114		getma.org/?cm=msa&ty=f&p=HSC20_HUMAN&rb=156&re=230&var=N198Y	deleterious(0.01)				YES	HSCB,missense_variant,p.Asn198Tyr,ENST00000216027,NM_172002.3;HSCB,3_prime_UTR_variant,,ENST00000398941,;HSCB,non_coding_transcript_exon_variant,,ENST00000495977,;HSCB,non_coding_transcript_exon_variant,,ENST00000483861,;HSCB,3_prime_UTR_variant,,ENST00000450178,;HSCB,3_prime_UTR_variant,,ENST00000420442,;							MODERATE	592/708	N198Y	HSC20_HUMAN			Transcript		benign(0.044)	.	ENSP00000216027		CCDS13845.1			1	
MGAM	0	LGGM	GRCh37	7	141796201	141796201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	33	4	.	.	ENST00000549489.2:c.4990C>A	p.Pro1664Thr	p.P1664T	ENST00000549489	NM_004668.2	1664	Cct/Act	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=1215&to=1717&var=P1664T	ENST00000549489		ENSG00000257335	7043		37	4.74		HGNC	p.P2561T		MGAM		SNV							ENST00000475668	protein_coding	getma.org/?cm=var&var=hg19,7,141796201,C,A&fts=all		Superfamily_domains:SSF51011,Pfam_domain:PF01055		P/T		A	high	5085/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=1215&re=1717&var=P1664T	deleterious(0)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Pro2560Thr,ENST00000475668,;MGAM,missense_variant,p.Pro1664Thr,ENST00000549489,NM_004668.2;MGAM,downstream_gene_variant,,ENST00000485078,;							MODERATE	4990/5574	P1664T	MGA_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000447378		CCDS47727.1			1	
UGGT1	0	LGGM	GRCh37	2	128934411	128934411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	53	4	.	.	ENST00000259253.6:c.3563C>A	p.Pro1188His	p.P1188H	ENST00000259253	NM_020120.3	1188	cCt/cAt	0	1	1	UPI00000707D8	0	NA	ENST00000259253		ENSG00000136731	15663		57	1.595		HGNC	p.P1164H		UGGT1		SNV							ENST00000375990	protein_coding	getma.org/?cm=var&var=hg19,2,128934411,C,A&fts=all		hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3		P/H		A	low	3610/10650		getma.org/?cm=msa&ty=f&p=UGGG1_HUMAN&rb=1151&re=1350&var=P1188H	tolerated(0.28)				YES	UGGT1,missense_variant,p.Pro1164His,ENST00000375990,;UGGT1,missense_variant,p.Pro1188His,ENST00000259253,NM_020120.3;UGGT1,upstream_gene_variant,,ENST00000418197,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;							MODERATE	3563/4668	P1188H	UGGG1_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000259253		CCDS2154.1			1	
NTRK2	0	LGGM	GRCh37	9	87366978	87366978	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	12	4	.	.	ENST00000277120.3:c.1374A>G	p.Arg458=	p.R458=	ENST00000277120		458	agA/agG	0	1		UPI0000000C0E	0		ENST00000323115		ENSG00000148053	8032		16			HGNC	p.R458R		NTRK2		SNV			1				ENST00000277120	protein_coding			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136		R		G		1727/3708				S5MD53_HUMAN,Q8WXJ4_HUMAN,Q548C2_HUMAN				NTRK2,synonymous_variant,p.=,ENST00000304053,NM_001018065.2;NTRK2,synonymous_variant,p.=,ENST00000376208,NM_001018066.2;NTRK2,synonymous_variant,p.=,ENST00000395882,NM_001007097.1;NTRK2,synonymous_variant,p.=,ENST00000359847,;NTRK2,synonymous_variant,p.=,ENST00000376214,NM_006180.3;NTRK2,synonymous_variant,p.=,ENST00000376213,NM_001018064.1;NTRK2,synonymous_variant,p.=,ENST00000277120,;NTRK2,synonymous_variant,p.=,ENST00000323115,;NTRK2,synonymous_variant,p.=,ENST00000395866,;							LOW	1374/2469		NTRK2_HUMAN			Transcript			.	ENSP00000314586		CCDS35050.1			1	
MID1	0	LGGM	GRCh37	X	10417661	10417661	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	34	4	.	.	ENST00000317552.4:c.1751G>T	p.Trp584Leu	p.W584L	ENST00000317552	NM_033289.1	584	tGg/tTg	0	1	1	UPI000012F0E6	0	getma.org/pdb.php?prot=TRI18_HUMAN&from=538&to=655&var=W584L	ENST00000317552		ENSG00000101871	7095		38	1.445		HGNC	p.W584L		MID1		SNV			1				ENST00000317552	protein_coding	getma.org/?cm=var&var=hg19,X,10417661,C,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF26,hmmpanther:PTHR24103,PROSITE_profiles:PS50188		W/L		A	low	2152/6463		getma.org/?cm=msa&ty=f&p=TRI18_HUMAN&rb=538&re=655&var=W584L	deleterious(0.03)	C9JZJ7_HUMAN,C9J453_HUMAN			YES	MID1,missense_variant,p.Trp584Leu,ENST00000317552,NM_033289.1,NM_000381.3;MID1,missense_variant,p.Trp584Leu,ENST00000453318,NM_001098624.2;MID1,missense_variant,p.Trp584Leu,ENST00000380780,;MID1,missense_variant,p.Trp584Leu,ENST00000380785,;MID1,missense_variant,p.Trp584Leu,ENST00000380779,NM_001193277.1;MID1,missense_variant,p.Trp584Leu,ENST00000380787,NM_033290.3;MID1,splice_region_variant,,ENST00000380782,;MID1,non_coding_transcript_exon_variant,,ENST00000479925,;							MODERATE	1751/2004	W584L	TRI18_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000312678		CCDS14138.1			1	
MAP4	0	LGGM	GRCh37	3	47951768	47951768	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	29	4	.	.	ENST00000360240.6:c.1999+4539G>T		*667*	ENST00000360240	NM_002375.4			0	1	1	UPI000020A6A4	0		ENST00000360240		ENSG00000047849	6862		33			HGNC	p.L1398L		MAP4		SNV							ENST00000426837	protein_coding							A		-/5142							YES	MAP4,synonymous_variant,p.=,ENST00000426837,;MAP4,5_prime_UTR_variant,,ENST00000383736,;MAP4,intron_variant,,ENST00000395734,NM_001134364.1;MAP4,intron_variant,,ENST00000383737,;MAP4,intron_variant,,ENST00000360240,NM_002375.4;MAP4,upstream_gene_variant,,ENST00000264724,;MAP4,upstream_gene_variant,,ENST00000429422,;MAP4,intron_variant,,ENST00000482752,;							MODIFIER	-/3459		MAP4_HUMAN			Transcript			.	ENSP00000353375		CCDS33750.1			1	
SMAP1	0	LGGM	GRCh37	6	71566570	71566570	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	39	4	.	.	ENST00000370455.3:c.798C>A	p.Pro266=	p.P266=	ENST00000370455	NM_001281440.1	266	ccC/ccA	0	1	1	UPI00000727D6	0		ENST00000370455		ENSG00000112305	19651		43			HGNC	p.P239P		SMAP1		SNV							ENST00000370452	protein_coding			hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF214,Low_complexity_(Seg):seg		P		A		1046/3333							YES	SMAP1,synonymous_variant,p.=,ENST00000370455,NM_001281440.1,NM_001044305.2;SMAP1,synonymous_variant,p.=,ENST00000370452,NM_001281439.1;SMAP1,synonymous_variant,p.=,ENST00000316999,NM_021940.4;B3GAT2,3_prime_UTR_variant,,ENST00000230053,NM_080742.2;							LOW	798/1404		SMAP1_HUMAN			Transcript			.	ENSP00000359484		CCDS43478.1			1	
ATP1A1	0	LGGM	GRCh37	1	116940652	116940652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	33	4	.	.	ENST00000537345.1:c.2116C>A	p.Gln706Lys	p.Q706K	ENST00000537345	NM_001160233.1	706	Caa/Aaa	0	1		UPI0000124FBB	0	getma.org/pdb.php?prot=AT1A1_HUMAN&from=370&to=729&var=Q706K	ENST00000295598		ENSG00000163399	799		37	1.23		HGNC	p.Q706K		ATP1A1		SNV							ENST00000537345	protein_coding	getma.org/?cm=var&var=hg19,1,116940652,C,A&fts=all		Gene3D:1.20.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF222,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494		Q/K		A	low	2368/3654		getma.org/?cm=msa&ty=f&p=AT1A1_HUMAN&rb=370&re=729&var=Q706K	deleterious(0)	Q5TC02_HUMAN,Q5TC01_HUMAN				ATP1A1,missense_variant,p.Gln706Lys,ENST00000537345,NM_001160233.1;ATP1A1,missense_variant,p.Gln706Lys,ENST00000295598,NM_000701.7;ATP1A1,missense_variant,p.Gln675Lys,ENST00000369496,NM_001160234.1;ATP1A1,upstream_gene_variant,,ENST00000440951,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1OS,downstream_gene_variant,,ENST00000493908,;ATP1A1,upstream_gene_variant,,ENST00000479960,;							MODERATE	2116/3072	Q706K	AT1A1_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000295598		CCDS887.1			1	
PIM1	0	LGGM	GRCh37	6	37140777	37140777	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	42	4	.	.	ENST00000373509.5:c.613C>A	p.Arg205=	p.R205=	ENST00000373509	NM_002648.3	205	Cga/Aga	0	1	1	UPI0000001060	0		ENST00000373509		ENSG00000137193	8986		46			HGNC	p.R205R	rs767531750	PIM1	6.06E-05	SNV							ENST00000373509	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR22984,hmmpanther:PTHR22984:SF4,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		R		A		986/2650							YES	PIM1,synonymous_variant,p.=,ENST00000373509,NM_002648.3,NM_001243186.1;PIM1,non_coding_transcript_exon_variant,,ENST00000468243,;PIM1,non_coding_transcript_exon_variant,,ENST00000479509,;							LOW	613/942		PIM1_HUMAN			Transcript			.	ENSP00000362608	8.24E-06	CCDS4830.1			1	
DLL1	0	LGGM	GRCh37	6	170597372	170597372	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	5	.	.	ENST00000366756.3:c.625G>T	p.Glu209Ter	p.E209*	ENST00000366756	NM_005618.3	209	Gag/Tag	0	1	1	UPI000004C656	0	NA	ENST00000366756		ENSG00000198719	2908		19	0		HGNC	p.E209X		DLL1		SNV			1				ENST00000366756	protein_coding	getma.org/?cm=var&var=hg19,6,170597372,C,A&fts=all		PROSITE_profiles:PS51051,hmmpanther:PTHR24044,Pfam_domain:PF01414,Gene3D:2gy5A03,SMART_domains:SM00051		E/*		A	NA	959/3174		NA					YES	DLL1,stop_gained,p.Glu209Ter,ENST00000366756,NM_005618.3;FAM120B,upstream_gene_variant,,ENST00000540480,;							HIGH	625/2172	E209*	DLL1_HUMAN			Transcript			.	ENSP00000355718		CCDS5313.1			1	
ADAM30	0	LGGM	GRCh37	1	120436764	120436764	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	97	5	.	.	ENST00000369400.1:c.2196G>T	p.Gln732His	p.Q732H	ENST00000369400	NM_021794.3	732	caG/caT	0	1	1	UPI000004C638	0	NA	ENST00000369400		ENSG00000134249	208		102	0.55		HGNC	p.Q732H		ADAM30		SNV							ENST00000369400	protein_coding	getma.org/?cm=var&var=hg19,1,120436764,C,A&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF31		Q/H		A	neutral	2355/2963		getma.org/?cm=msa&ty=f&p=ADA30_HUMAN&rb=690&re=788&var=Q732H	tolerated(0.13)				YES	ADAM30,missense_variant,p.Gln732His,ENST00000369400,NM_021794.3;							MODERATE	2196/2373	Q732H	ADA30_HUMAN			Transcript		benign(0.215)	.	ENSP00000358407		CCDS907.1			1	
NALF1	0	LGGM	GRCh37	13	107863049	107863049	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	21	5	.	.	ENST00000375915.2:c.970T>C	p.Cys324Arg	p.C324R	ENST00000375915	NM_001080396.2	324	Tgc/Cgc	0	1	1	UPI000045882C	0	NA	ENST00000375915		ENSG00000204442	33877		26	1.905		HGNC	p.C324R		FAM155A		SNV							ENST00000375915	protein_coding	getma.org/?cm=var&var=hg19,13,107863049,A,G&fts=all		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2		C/R		G	medium	1109/3478		getma.org/?cm=msa&ty=f&p=F155A_HUMAN&rb=1&re=456&var=C324R	deleterious(0.01)				YES	FAM155A,missense_variant,p.Cys324Arg,ENST00000375915,NM_001080396.2;							MODERATE	970/1377	C324R	F155A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000365080		CCDS32006.1			1	
ABCC6	0	LGGM	GRCh37	16	16297272	16297272	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	9	5	.	.	ENST00000205557.7:c.993G>A	p.Leu331=	p.L331=	ENST00000205557	NM_001171.5	331	ctG/ctA	0	1	1	UPI00001AE5CA	0		ENST00000205557		ENSG00000091262	57		14			HGNC	p.L331L		ABCC6		SNV			1				ENST00000456970	protein_coding			Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR00957		L		T		1023/5747							YES	ABCC6,synonymous_variant,p.=,ENST00000205557,NM_001171.5;ABCC6,non_coding_transcript_exon_variant,,ENST00000574094,;ABCC6,synonymous_variant,p.=,ENST00000456970,;ABCC6,3_prime_UTR_variant,,ENST00000577103,;							LOW	993/4512		MRP6_HUMAN			Transcript			.	ENSP00000205557		CCDS10568.1			1	
APP	0	LGGM	GRCh37	21	27462278	27462278	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	17	6	.	.	ENST00000346798.3:c.336G>A	p.Val112=	p.V112=	ENST00000346798	NM_000484.3	112	gtG/gtA	0	1	1	UPI000002DB1C	0		ENST00000346798		ENSG00000142192	620		23			HGNC	p.V112V		APP		SNV			1				ENST00000358918	protein_coding			Superfamily_domains:0041119,Gene3D:1mwpA00,Pfam_domain:PF02177,hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF7,SMART_domains:SM00006		V		T		370/3467				L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN			YES	APP,synonymous_variant,p.=,ENST00000358918,NM_001204302.1,NM_001204301.1;APP,synonymous_variant,p.=,ENST00000357903,NM_201413.2;APP,synonymous_variant,p.=,ENST00000346798,NM_000484.3;APP,synonymous_variant,p.=,ENST00000359726,;APP,synonymous_variant,p.=,ENST00000348990,NM_001204303.1,NM_201414.2;APP,synonymous_variant,p.=,ENST00000354192,NM_001136129.2;APP,synonymous_variant,p.=,ENST00000440126,NM_001136016.3;APP,synonymous_variant,p.=,ENST00000448388,NM_001136131.2;APP,synonymous_variant,p.=,ENST00000439274,NM_001136130.2;APP,synonymous_variant,p.=,ENST00000448850,;APP,non_coding_transcript_exon_variant,,ENST00000474136,;APP,non_coding_transcript_exon_variant,,ENST00000462267,;							LOW	336/2313		A4_HUMAN			Transcript			.	ENSP00000284981		CCDS13576.1			1	
EPS8	0	LGGM	GRCh37	12	15794742	15794742	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	17	6	.	.	ENST00000281172.5:c.1591C>A	p.Gln531Lys	p.Q531K	ENST00000281172	NM_004447.5	531	Caa/Aaa	0	1	1	UPI000012A0BC	0	getma.org/pdb.php?prot=EPS8_HUMAN&from=531&to=590&var=Q531K	ENST00000281172		ENSG00000151491	3420		23	1.355		HGNC	p.Q531K		EPS8		SNV			1				ENST00000543523	protein_coding	getma.org/?cm=var&var=hg19,12,15794742,G,T&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21		Q/K		T	low	2028/4061		getma.org/?cm=msa&ty=f&p=EPS8_HUMAN&rb=531&re=590&var=Q531K	tolerated(0.76)	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN			YES	EPS8,missense_variant,p.Gln531Lys,ENST00000281172,NM_004447.5;EPS8,missense_variant,p.Gln531Lys,ENST00000543523,;EPS8,missense_variant,p.Gln531Lys,ENST00000543612,;EPS8,missense_variant,p.Gln271Lys,ENST00000540613,;EPS8,missense_variant,p.Gln271Lys,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;							MODERATE	1591/2469	Q531K	EPS8_HUMAN			Transcript		benign(0.002)	.	ENSP00000281172		CCDS31753.1			1	
FLYWCH1	0	LGGM	GRCh37	16	2998710	2998710	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	27	6	.	.	ENST00000416288.2:c.2130G>A	p.Leu710=	p.L710=	ENST00000416288	NM_032296.2	710	ctG/ctA	0	1		UPI000013CE05	0		ENST00000253928		ENSG00000059122	25404		33			HGNC	p.L711L		FLYWCH1		SNV							ENST00000253928	protein_coding			hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF2		L		A		2538/5037				I3L231_HUMAN,I3L0R3_HUMAN				FLYWCH1,synonymous_variant,p.=,ENST00000399667,;FLYWCH1,synonymous_variant,p.=,ENST00000253928,;FLYWCH1,synonymous_variant,p.=,ENST00000416288,NM_032296.2,NM_020912.1;FLYWCH1,synonymous_variant,p.=,ENST00000344592,;FLYWCH1,synonymous_variant,p.=,ENST00000575679,;LA16c-321D4.2,intron_variant,,ENST00000573260,;FLYWCH1,non_coding_transcript_exon_variant,,ENST00000570752,;FLYWCH1,non_coding_transcript_exon_variant,,ENST00000574985,;							LOW	2133/2151		FWCH1_HUMAN			Transcript			.	ENSP00000253928					1	
FPR2	0	LGGM	GRCh37	19	52272595	52272595	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	6	.	.	ENST00000598776.1:c.684C>A	p.Ile228=	p.I228=	ENST00000598776	NM_001462.3	228	atC/atA	0	1		UPI00000012D0	0		ENST00000340023		ENSG00000171049	3827		20			HGNC	p.I228I		FPR2		SNV							ENST00000340023	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00526,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,Superfamily_domains:SSF81321		I		A		1078/2262				M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN				FPR2,synonymous_variant,p.=,ENST00000598776,NM_001462.3;FPR2,synonymous_variant,p.=,ENST00000340023,NM_001005738.1;FPR2,synonymous_variant,p.=,ENST00000598953,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000599326,;FPR2,downstream_gene_variant,,ENST00000600722,;							LOW	684/1056		FPR2_HUMAN			Transcript			.	ENSP00000340191		CCDS12840.1			1	
MYO5A	0	LGGM	GRCh37	15	52708392	52708392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	16	6	.	.	ENST00000399231.3:c.562A>T	p.Ser188Cys	p.S188C	ENST00000399231	NM_000259.3	188	Agt/Tgt	0	1	1	UPI0000E445E1	0	getma.org/pdb.php?prot=MYO5A_HUMAN&from=71&to=751&var=S188C	ENST00000399231		ENSG00000197535	7602		22	3		HGNC	p.S188C		MYO5A		SNV			1				ENST00000553916	protein_coding	getma.org/?cm=var&var=hg19,15,52708392,T,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273,PROSITE_profiles:PS51456		S/C		A	medium	806/12225		getma.org/?cm=msa&ty=f&p=MYO5A_HUMAN&rb=71&re=751&var=S188C	deleterious(0)	Q9UES4_HUMAN			YES	MYO5A,missense_variant,p.Ser188Cys,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Ser188Cys,ENST00000399233,;MYO5A,missense_variant,p.Ser188Cys,ENST00000358212,;MYO5A,missense_variant,p.Ser188Cys,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Ser188Cys,ENST00000553916,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;MYO5A,non_coding_transcript_exon_variant,,ENST00000561810,;							MODERATE	562/5568	S188C	MYO5A_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000382177		CCDS42037.1			1	
AHNAK	0	LGGM	GRCh37	11	62286176	62286176	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	41	6	.	.	ENST00000378024.4:c.15713T>G	p.Met5238Arg	p.M5238R	ENST00000378024	NM_001620.2	5238	aTg/aGg	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		47	2.915		HGNC	p.M5238R		AHNAK		SNV							ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62286176,A,C&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		M/R		C	medium	15988/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=5201&re=5400&var=M5238R		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Met5238Arg,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;							MODERATE	15713/17673	M5238R	AHNK_HUMAN			Transcript		possibly_damaging(0.721)	.	ENSP00000367263		CCDS31584.1			1	
NOX3	0	LGGM	GRCh37	6	155749988	155749988	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	33	6	.	.	ENST00000159060.2:c.1085C>T	p.Ala362Val	p.A362V	ENST00000159060	NM_015718.2	362	gCg/gTg	0	1	1	UPI000006EC80	0	NA	ENST00000159060		ENSG00000074771	7890		39	3.005		HGNC	p.A362V	rs752721325	NOX3		SNV							ENST00000159060	protein_coding	getma.org/?cm=var&var=hg19,6,155749988,G,A&fts=all		PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Gene3D:2.40.30.10,Pfam_domain:PF08022,Superfamily_domains:SSF63380		A/V		A	medium	1188/2042	3.10E-05	getma.org/?cm=msa&ty=f&p=NOX3_HUMAN&rb=290&re=393&var=A362V	tolerated(0.1)				YES	NOX3,missense_variant,p.Ala362Val,ENST00000159060,NM_015718.2;	0.000116						MODERATE	1085/1707	A362V	NOX3_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000159060	2.47E-05	CCDS5250.1			1	
RYR3	0	LGGM	GRCh37	15	34047369	34047369	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	17	7	.	.	ENST00000389232.4:c.8503A>G	p.Ile2835Val	p.I2835V	ENST00000389232	NM_001036.3	2835	Att/Gtt	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		24	1.245		HGNC	p.I2835V		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,34047369,A,G&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		I/V		G	low	8573/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2804&re=3003&var=I2835V					YES	RYR3,missense_variant,p.Ile2835Val,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Ile2835Val,ENST00000415757,NM_001243996.1;							MODERATE	8503/14613	I2835V	RYR3_HUMAN			Transcript		benign(0.218)	.	ENSP00000373884		CCDS45210.1			1	
CHD1	0	LGGM	GRCh37	5	98262054	98262054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	16	7	.	.	ENST00000284049.3:c.37A>G	p.Ser13Gly	p.S13G	ENST00000284049	NM_001270.2	13	Agt/Ggt	0	1	1	UPI000013DD75	0	NA	ENST00000284049		ENSG00000153922	1915		23	2.095		HGNC	p.S13G		CHD1		SNV							ENST00000284049	protein_coding	getma.org/?cm=var&var=hg19,5,98262054,T,C&fts=all		hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,Low_complexity_(Seg):seg		S/G		C	medium	187/5918		getma.org/?cm=msa&ty=f&p=CHD1_HUMAN&rb=1&re=200&var=S13G	tolerated_low_confidence(0.28)				YES	CHD1,missense_variant,p.Ser13Gly,ENST00000284049,NM_001270.2;CTD-2007H13.3,upstream_gene_variant,,ENST00000513175,;							MODERATE	37/5133	S13G	CHD1_HUMAN			Transcript		benign(0)	.	ENSP00000284049		CCDS34204.1			1	
FSCN3	0	LGGM	GRCh37	7	127240305	127240305	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	19	7	.	.	ENST00000265825.5:c.1349A>C	p.Lys450Thr	p.K450T	ENST00000265825	NM_020369.2	450	aAg/aCg	0	1	1	UPI000012AC5F	0	getma.org/pdb.php?prot=FSCN3_HUMAN&from=382&to=498&var=K450T	ENST00000265825		ENSG00000106328	3961		26	0.805		HGNC	p.K450T		FSCN3		SNV							ENST00000265825	protein_coding	getma.org/?cm=var&var=hg19,7,127240305,A,C&fts=all		Gene3D:2.80.10.50,PIRSF_domain:PIRSF005682,hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF1,Superfamily_domains:SSF50405		K/T		C	low	1568/2238		getma.org/?cm=msa&ty=f&p=FSCN3_HUMAN&rb=382&re=498&var=K450T	deleterious(0.03)	R4GN86_HUMAN			YES	FSCN3,missense_variant,p.Lys450Thr,ENST00000265825,NM_020369.2;FSCN3,missense_variant,p.Gln314His,ENST00000420086,;FSCN3,downstream_gene_variant,,ENST00000478821,;FSCN3,downstream_gene_variant,,ENST00000478328,;FSCN3,downstream_gene_variant,,ENST00000469242,;FSCN3,downstream_gene_variant,,ENST00000421705,;							MODERATE	1349/1497	K450T	FSCN3_HUMAN			Transcript		benign(0.035)	.	ENSP00000265825		CCDS34746.1			1	
CELF2	0	LGGM	GRCh37	10	11047396	11047396	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	112	7	.	.				ENST00000437825				0	1		UPI0000072DD8	0	NA	ENST00000416382		ENSG00000048740	2550		119	0.205		HGNC	p.L16I		CELF2		SNV							ENST00000416382	protein_coding	getma.org/?cm=var&var=hg19,10,11047396,C,A&fts=all		hmmpanther:PTHR24622:SF164,hmmpanther:PTHR24622		L/I		A	neutral	46/2398		getma.org/?cm=msa&ty=f&p=CELF2_HUMAN&rb=1&re=41&var=L16I	tolerated_low_confidence(0.17)	B4DZ01_HUMAN,B4DT00_HUMAN				CELF2,missense_variant,p.Leu16Ile,ENST00000379261,NM_001025077.2;CELF2,missense_variant,p.Leu16Ile,ENST00000416382,;RP1-251M9.3,downstream_gene_variant,,ENST00000437825,;							MODERATE	46/1527	L16I	CELF2_HUMAN			Transcript		benign(0.003)	.	ENSP00000406451		CCDS44354.1			1	
GUCY1A2	0	LGGM	GRCh37	11	106810475	106810475	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	23	7	.	.	ENST00000282249.2:c.917C>T	p.Pro306Leu	p.P306L	ENST00000282249	NM_001256424.1	306	cCa/cTa	0	1		UPI0000128C17	0	NA	ENST00000526355		ENSG00000152402	4684		30	0.805		HGNC	p.P306L		GUCY1A2		SNV							ENST00000282249	protein_coding	getma.org/?cm=var&var=hg19,11,106810475,G,A&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276		P/L		A	low	1386/16205		getma.org/?cm=msa&ty=f&p=GCYA2_HUMAN&rb=277&re=310&var=P306L	tolerated(0.09)					GUCY1A2,missense_variant,p.Pro306Leu,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.Pro306Leu,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.Pro306Leu,ENST00000347596,;							MODERATE	917/2199	P306L	GCYA2_HUMAN			Transcript		benign(0.004)	.	ENSP00000431245		CCDS8335.1			1	
HEATR1	0	LGGM	GRCh37	1	236751262	236751262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	43	7	.	.	ENST00000366582.3:c.1612A>T	p.Ile538Leu	p.I538L	ENST00000366582	NM_018072.5	538	Ata/Tta	0	1	1	UPI000013D4D4	0	NA	ENST00000366582		ENSG00000119285	25517		50	-2.005		HGNC	p.I538L	rs149485004	HEATR1		SNV	C:0						ENST00000366581	protein_coding	getma.org/?cm=var&var=hg19,1,236751262,T,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371		I/L	C:0.0006	A	neutral	1727/8447	3.01E-05	getma.org/?cm=msa&ty=f&p=HEAT1_HUMAN&rb=478&re=567&var=I538L	tolerated(1)	Q6P664_HUMAN			YES	HEATR1,missense_variant,p.Ile538Leu,ENST00000366582,NM_018072.5;HEATR1,missense_variant,p.Ile538Leu,ENST00000366581,;							MODERATE	1612/6435	I538L	HEAT1_HUMAN			Transcript		benign(0.001)	.	ENSP00000355541	1.65E-05	CCDS31066.1			1	
KLHDC7A	0	LGGM	GRCh37	1	18807543	18807543	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	15	7	.	.	ENST00000400664.1:c.68T>C	p.Leu23Pro	p.L23P	ENST00000400664	NM_152375.2	23	cTg/cCg	0	1	1	UPI0000E0501F	0	NA	ENST00000400664		ENSG00000179023	26791		22	0.695		HGNC	p.L23P		KLHDC7A		SNV							ENST00000400664	protein_coding	getma.org/?cm=var&var=hg19,1,18807543,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/P		C	neutral	120/5055		getma.org/?cm=msa&ty=f&p=KLD7A_HUMAN&rb=5&re=92&var=L23P	deleterious(0)	A4FU39_HUMAN			YES	KLHDC7A,missense_variant,p.Leu23Pro,ENST00000400664,NM_152375.2;							MODERATE	68/2334	L23P	KLD7A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383505		CCDS185.2			1	
TRAF2	0	LGGM	GRCh37	9	139820278	139820278	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	10	7	.	.	ENST00000247668.2:c.1431G>T	p.Lys477Asn	p.K477N	ENST00000247668	NM_021138.3	477	aaG/aaT	0	1	1	UPI0000001612	0	getma.org/pdb.php?prot=TRAF2_HUMAN&from=358&to=498&var=K477N	ENST00000247668		ENSG00000127191	12032		17	1.89		HGNC	p.K477N		TRAF2		SNV							ENST00000536468	protein_coding	getma.org/?cm=var&var=hg19,9,139820278,G,T&fts=all		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		K/N		T	low	1483/2264		getma.org/?cm=msa&ty=f&p=TRAF2_HUMAN&rb=358&re=498&var=K477N	deleterious(0.01)	B1AMY1_HUMAN,B1AMX8_HUMAN,B1AMX7_HUMAN			YES	TRAF2,missense_variant,p.Lys529Asn,ENST00000359662,;TRAF2,missense_variant,p.Lys477Asn,ENST00000247668,NM_021138.3;TRAF2,missense_variant,p.Lys477Asn,ENST00000536468,;TRAF2,downstream_gene_variant,,ENST00000466107,;							MODERATE	1431/1506	K477N	TRAF2_HUMAN			Transcript		benign(0.226)	.	ENSP00000247668		CCDS7013.1			1	
BTBD7	0	LGGM	GRCh37	14	93717997	93717997	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	38	7	.	.	ENST00000334746.5:c.1754C>T	p.Ser585Leu	p.S585L	ENST00000334746	NM_001002860.2	585	tCa/tTa	0	1	1	UPI00001FDA78	0	NA	ENST00000334746		ENSG00000011114	18269		45	1.67		HGNC	p.S200L		BTBD7		SNV							ENST00000553975	protein_coding	getma.org/?cm=var&var=hg19,14,93717997,G,A&fts=all		hmmpanther:PTHR16064		S/L		A	low	2062/8430		getma.org/?cm=msa&ty=f&p=BTBD7_HUMAN&rb=489&re=688&var=S585L	tolerated(0.17)	G3V2J4_HUMAN			YES	BTBD7,missense_variant,p.Ser585Leu,ENST00000334746,NM_001002860.2;BTBD7,missense_variant,p.Ser234Leu,ENST00000554565,;BTBD7,missense_variant,p.Ser200Leu,ENST00000553975,;BTBD7,missense_variant,p.Ser159Leu,ENST00000393170,;BTBD7,splice_region_variant,,ENST00000355125,;BTBD7,downstream_gene_variant,,ENST00000554644,;							MODERATE	1754/3399	S585L	BTBD7_HUMAN			Transcript		benign(0.005)	.	ENSP00000335615		CCDS32146.1			1	
DDX60	0	LGGM	GRCh37	4	169204688	169204688	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	15	7	.	.	ENST00000393743.3:c.1631A>G	p.Asn544Ser	p.N544S	ENST00000393743	NM_017631.5	544	aAt/aGt	0	1	1	UPI000020B6AB	0	NA	ENST00000393743		ENSG00000137628	25942		22	1.175		HGNC	p.N544S		DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169204688,T,C&fts=all		hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752		N/S		C	low	1923/6071		getma.org/?cm=msa&ty=f&p=DDX60_HUMAN&rb=12&re=732&var=N544S	tolerated(1)	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,missense_variant,p.Asn544Ser,ENST00000393743,NM_017631.5;							MODERATE	1631/5139	N544S	DDX60_HUMAN			Transcript		benign(0.004)	.	ENSP00000377344		CCDS34097.1			1	
SNX24	0	LGGM	GRCh37	5	122281774	122281774	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	19	7	.	.	ENST00000261369.4:c.169G>A	p.Glu57Lys	p.E57K	ENST00000261369	NM_014035.2	57	Gaa/Aaa	0	1	1	UPI0000135B54	0	getma.org/pdb.php?prot=SNX24_HUMAN&from=4&to=103&var=E57K	ENST00000261369		ENSG00000064652	21533		26	0.645		HGNC	p.E57K		SNX24		SNV							ENST00000506996	protein_coding	getma.org/?cm=var&var=hg19,5,122281774,G,A&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR15813,hmmpanther:PTHR15813:SF10,SMART_domains:SM00312,Superfamily_domains:SSF64268		E/K		A	neutral	354/2158		getma.org/?cm=msa&ty=f&p=SNX24_HUMAN&rb=4&re=103&var=E57K	deleterious(0.01)				YES	SNX24,missense_variant,p.Glu57Lys,ENST00000261369,NM_014035.2;SNX24,missense_variant,p.Glu57Lys,ENST00000513881,;SNX24,missense_variant,p.Glu90Lys,ENST00000395451,;SNX24,missense_variant,p.Glu57Lys,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.Glu37Lys,ENST00000503149,;SNX24,3_prime_UTR_variant,,ENST00000511545,;							MODERATE	169/510	E57K	SNX24_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000261369		CCDS4132.1			1	
ALG6	0	LGGM	GRCh37	1	63877643	63877643	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	52	8	.	.	ENST00000371108.4:c.727G>A	p.Val243Ile	p.V243I	ENST00000371108	NM_013339.3	243	Gtt/Att	0	1	1	UPI00001E057D	0	NA	ENST00000371108		ENSG00000088035	23157	8.66E-05	60	0.145		HGNC	p.V243I	rs367674567	ALG6		SNV	A:0		1				ENST00000371108	protein_coding	getma.org/?cm=var&var=hg19,1,63877643,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12413:SF1,hmmpanther:PTHR12413,Pfam_domain:PF03155		V/I	A:0.0003	A	neutral	1032/3371	6.01E-05	getma.org/?cm=msa&ty=f&p=ALG6_HUMAN&rb=12&re=491&var=V243I	tolerated(0.73)				YES	ALG6,missense_variant,p.Val243Ile,ENST00000371108,NM_013339.3;ALG6,missense_variant,p.Val245Ile,ENST00000263440,;ALG6,upstream_gene_variant,,ENST00000465969,;ALG6,missense_variant,p.Val245Ile,ENST00000603108,;							MODERATE	727/1524	V243I	ALG6_HUMAN			Transcript		benign(0)	.	ENSP00000360149	4.12E-05	CCDS30735.1			1	
CPE	0	LGGM	GRCh37	4	166416802	166416802	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	20	8	.	.	ENST00000402744.4:c.1305G>T	p.Val435=	p.V435=	ENST00000402744	NM_001873.2	435	gtG/gtT	0	1	1	UPI000000163E	0		ENST00000402744		ENSG00000109472	2303		28			HGNC	p.V435V		CPE		SNV							ENST00000402744	protein_coding			Superfamily_domains:SSF49464,SMART_domains:SM00631,Pfam_domain:PF13620,Gene3D:2.60.40.1120,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF41		V		T		1585/2421				D6RF88_HUMAN,D6R930_HUMAN,C9JE88_HUMAN			YES	CPE,synonymous_variant,p.=,ENST00000402744,NM_001873.2;							LOW	1305/1431		CBPE_HUMAN			Transcript			.	ENSP00000386104		CCDS3810.1			1	
ZNF431	0	LGGM	GRCh37	19	21366097	21366097	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	33	8	.	.	ENST00000311048.7:c.991C>G	p.Leu331Val	p.L331V	ENST00000311048	NM_133473.2	331	Ctt/Gtt	0	1	1	UPI0000191EAC	0	getma.org/pdb.php?prot=ZN431_HUMAN&from=330&to=355&var=L331V	ENST00000311048		ENSG00000196705	20809		41	2.93		HGNC	p.L331V		ZNF431		SNV							ENST00000311048	protein_coding	getma.org/?cm=var&var=hg19,19,21366097,C,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF118,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/V		G	medium	1135/3843		getma.org/?cm=msa&ty=f&p=ZN431_HUMAN&rb=310&re=375&var=L331V	deleterious(0.01)				YES	ZNF431,missense_variant,p.Leu331Val,ENST00000311048,NM_133473.2;ZNF431,3_prime_UTR_variant,,ENST00000600692,;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000598331,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000594821,;ZNF431,upstream_gene_variant,,ENST00000593426,;							MODERATE	991/1731	L331V	ZN431_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000308578		CCDS32979.1			1	
TBC1D25	0	LGGM	GRCh37	X	48419280	48419280	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	8	.	.	ENST00000376771.4:c.1984C>A	p.Arg662=	p.R662=	ENST00000376771	NM_002536.2	662	Cgg/Agg	0	1	1	UPI0000160685	0		ENST00000376771		ENSG00000068354	8092		22			HGNC	p.R662R		TBC1D25		SNV							ENST00000376771	protein_coding			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF189,Superfamily_domains:SSF47923		R		A		2325/4042				B4DF03_HUMAN,B4DE92_HUMAN			YES	TBC1D25,synonymous_variant,p.=,ENST00000376771,NM_002536.2;TBC1D25,synonymous_variant,p.=,ENST00000537536,;TBC1D25,downstream_gene_variant,,ENST00000418627,;snoU13,downstream_gene_variant,,ENST00000459609,;TBC1D25,downstream_gene_variant,,ENST00000476141,;TBC1D25,downstream_gene_variant,,ENST00000494495,;TBC1D25,downstream_gene_variant,,ENST00000481090,;							LOW	1984/2067		TBC25_HUMAN			Transcript			.	ENSP00000365962		CCDS35242.1			1	
FUT11	0	LGGM	GRCh37	10	75533032	75533032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	5	9	.	.	ENST00000372841.3:c.793C>A	p.Pro265Thr	p.P265T	ENST00000372841	NM_173540.2	265	Cca/Aca	0	1	1	UPI00000474D6	0	NA	ENST00000372841		ENSG00000196968	19233		14	1.99		HGNC	p.P265T		FUT11		SNV							ENST00000372841	protein_coding	getma.org/?cm=var&var=hg19,10,75533032,C,A&fts=all		hmmpanther:PTHR11929:SF2,hmmpanther:PTHR11929,Pfam_domain:PF00852,PIRSF_domain:PIRSF037332,Superfamily_domains:SSF53756		P/T		A	medium	836/2056		getma.org/?cm=msa&ty=f&p=FUT11_HUMAN&rb=51&re=408&var=P265T	tolerated(0.09)				YES	FUT11,missense_variant,p.Pro265Thr,ENST00000372841,NM_173540.2;FUT11,missense_variant,p.Pro265Thr,ENST00000394790,NM_001284194.1;SEC24C,downstream_gene_variant,,ENST00000339365,NM_004922.3;SEC24C,downstream_gene_variant,,ENST00000345254,NM_198597.2;SEC24C,downstream_gene_variant,,ENST00000411652,;SEC24C,downstream_gene_variant,,ENST00000540668,;SEC24C,downstream_gene_variant,,ENST00000535742,;AC022400.2,upstream_gene_variant,,ENST00000595757,;RMRPP1,downstream_gene_variant,,ENST00000517236,;FUT11,non_coding_transcript_exon_variant,,ENST00000465695,;FUT11,upstream_gene_variant,,ENST00000489264,;SEC24C,downstream_gene_variant,,ENST00000496827,;SEC24C,downstream_gene_variant,,ENST00000465076,;							MODERATE	793/1479	P265T	FUT11_HUMAN			Transcript		benign(0.014)	.	ENSP00000361932		CCDS7333.1			1	
CD53	0	LGGM	GRCh37	1	111435084	111435084	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	32	9	.	.	ENST00000271324.5:c.181T>C	p.Ser61Pro	p.S61P	ENST00000271324	NM_000560.3	61	Tct/Cct	0	1	1	UPI000000D991	0	NA	ENST00000271324		ENSG00000143119	1686		41	2.64		HGNC	p.S61P		CD53		SNV							ENST00000271324	protein_coding	getma.org/?cm=var&var=hg19,1,111435084,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF39,PROSITE_patterns:PS00421,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259		S/P		C	medium	293/1505		getma.org/?cm=msa&ty=f&p=CD53_HUMAN&rb=8&re=210&var=S61P	deleterious(0.02)				YES	CD53,missense_variant,p.Ser61Pro,ENST00000271324,NM_000560.3,NM_001040033.1;CD53,missense_variant,p.Ser61Pro,ENST00000429072,;CD53,non_coding_transcript_exon_variant,,ENST00000476408,;CD53,non_coding_transcript_exon_variant,,ENST00000471220,;CD53,upstream_gene_variant,,ENST00000497404,;							MODERATE	181/660	S61P	CD53_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000271324		CCDS829.1			1	
MLLT4	0	LGGM	GRCh37	6	168297619	168297619	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	25	9	.	.	ENST00000392108.3:c.1284T>A	p.Val428=	p.V428=	ENST00000392108	NM_001040000.2	428	gtT/gtA	0	1		UPI000047089C	0		ENST00000447894		ENSG00000130396	7137		34			HGNC	p.V428V		MLLT4		SNV							ENST00000447894	protein_coding			hmmpanther:PTHR10398,Gene3D:2.60.200.20,SMART_domains:SM00240,Superfamily_domains:SSF49879		V		A		1284/5475								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.=,ENST00000423229,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;MLLT4,non_coding_transcript_exon_variant,,ENST00000503021,;							LOW	1284/5475		AFAD_HUMAN			Transcript			.	ENSP00000404595					1	
OTOF	0	LGGM	GRCh37	2	26724639	26724639	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	6	9	.	.	ENST00000272371.2:c.748C>T	p.Arg250Trp	p.R250W	ENST00000272371	NM_194248.2	250	Cgg/Tgg	0	1	1	UPI000013D94D	0	NA	ENST00000272371	uncertain_significance	ENSG00000115155	8515	8.64E-05	15	2.255		HGNC	p.R250W	rs373680242	OTOF		SNV	A:0.0007		1	0.00115		1	ENST00000272371	protein_coding	getma.org/?cm=var&var=hg19,2,26724639,G,A&fts=all	A:0.0008	Gene3D:2.60.40.150,PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32		R/W	A:0	A	medium	875/7156		getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=241&re=338&var=R250W	deleterious(0)		A:0	A:0	YES	OTOF,missense_variant,p.Arg250Trp,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Arg250Trp,ENST00000403946,NM_001287489.1;	0.000116	A:0.0002					MODERATE	748/5994	R250W	OTOF_HUMAN		A:0	Transcript		probably_damaging(0.987)	common_variant	ENSP00000272371	0.000115	CCDS1725.1		A:0	1	
PLAA	0	LGGM	GRCh37	9	26935078	26935078	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	22	9	.	.	ENST00000397292.3:c.276C>T	p.His92=	p.H92=	ENST00000397292	NM_001031689.2	92	caC/caT	0	1	1	UPI00000372D6	0		ENST00000397292		ENSG00000137055	9043		31			HGNC	p.H92H		PLAA		SNV							ENST00000520884	protein_coding			PROSITE_profiles:PS50294,hmmpanther:PTHR19849:SF0,hmmpanther:PTHR19849,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		H		A		694/4234							YES	PLAA,synonymous_variant,p.=,ENST00000397292,NM_001031689.2;PLAA,synonymous_variant,p.=,ENST00000520884,;PLAA,synonymous_variant,p.=,ENST00000523212,;							LOW	276/2388		PLAP_HUMAN			Transcript			.	ENSP00000380460		CCDS35000.1			1	
SLC35A3	0	LGGM	GRCh37	1	100464949	100464949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	28	9	.	.	ENST00000370155.3:c.320A>G	p.Asn107Ser	p.N107S	ENST00000370155	NM_012243.2	107	aAt/aGt	0	1	1	UPI0000137AF2	0	NA	ENST00000370155		ENSG00000117620	11023		37	3.085		HGNC	p.N107S		SLC35A3		SNV			1				ENST00000370155	protein_coding	getma.org/?cm=var&var=hg19,1,100464949,A,G&fts=all		hmmpanther:PTHR10231:SF36,hmmpanther:PTHR10231,TIGRFAM_domain:TIGR00803,Pfam_domain:PF04142,PIRSF_domain:PIRSF005799,Superfamily_domains:0043518		N/S		G	medium	712/2347		getma.org/?cm=msa&ty=f&p=S35A3_HUMAN&rb=68&re=305&var=N107S	deleterious(0.01)	E9PPQ9_HUMAN,C9JW63_HUMAN			YES	SLC35A3,missense_variant,p.Asn107Ser,ENST00000465289,NM_001271684.1;SLC35A3,missense_variant,p.Asn107Ser,ENST00000370155,NM_012243.2;SLC35A3,missense_variant,p.Asn149Ser,ENST00000370153,NM_001271685.1;SLC35A3,missense_variant,p.Asn107Ser,ENST00000427993,;SLC35A3,missense_variant,p.Asn107Ser,ENST00000422078,;SLC35A3,downstream_gene_variant,,ENST00000532693,;RNU6-1318P,downstream_gene_variant,,ENST00000365389,;SLC35A3,non_coding_transcript_exon_variant,,ENST00000370156,;SLC35A3,missense_variant,p.Asn107Ser,ENST00000533028,;							MODERATE	320/978	N107S	S35A3_HUMAN			Transcript		benign(0.141)	.	ENSP00000359174		CCDS762.1			1	
HSPA8	0	LGGM	GRCh37	11	122928488	122928488	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	32	9	.	.	ENST00000534624.1:c.1895C>T	p.Pro632Leu	p.P632L	ENST00000534624	NM_006597.5	632	cCc/cTc	0	1		UPI0000000801	0	NA	ENST00000227378		ENSG00000109971	5241		41	3.02		HGNC	p.P632L		HSPA8		SNV							ENST00000227378	protein_coding	getma.org/?cm=var&var=hg19,11,122928488,G,A&fts=all		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF156,Low_complexity_(Seg):seg		P/L		A	medium	1903/2186		getma.org/?cm=msa&ty=f&p=HSP7C_HUMAN&rb=613&re=646&var=P632L	deleterious_low_confidence(0.05)	Q9NZ87_HUMAN,Q96IS6_HUMAN,Q96H53_HUMAN,Q96BE0_HUMAN,E9PS65_HUMAN,E9PQQ4_HUMAN,E9PQK7_HUMAN,E9PPY6_HUMAN,E9PN89_HUMAN,E9PN25_HUMAN,E9PM13_HUMAN,E9PLF4_HUMAN,E9PK54_HUMAN,A8K7Q2_HUMAN				HSPA8,missense_variant,p.Pro632Leu,ENST00000534624,NM_006597.5;HSPA8,missense_variant,p.Pro632Leu,ENST00000532636,;HSPA8,missense_variant,p.Pro632Leu,ENST00000227378,;HSPA8,missense_variant,p.Pro479Leu,ENST00000453788,NM_153201.3;HSPA8,missense_variant,p.Pro613Leu,ENST00000526110,;HSPA8,missense_variant,p.Pro396Leu,ENST00000534319,;HSPA8,missense_variant,p.Pro486Leu,ENST00000533540,;HSPA8,missense_variant,p.Pro223Leu,ENST00000524552,;HSPA8,downstream_gene_variant,,ENST00000528292,;HSPA8,downstream_gene_variant,,ENST00000525624,;HSPA8,downstream_gene_variant,,ENST00000526686,;HSPA8,downstream_gene_variant,,ENST00000532182,;HSPA8,downstream_gene_variant,,ENST00000530391,;HSPA8,downstream_gene_variant,,ENST00000534567,;HSPA8,downstream_gene_variant,,ENST00000525463,;HSPA8,downstream_gene_variant,,ENST00000527387,;HSPA8,downstream_gene_variant,,ENST00000524590,;SNORD14C,downstream_gene_variant,,ENST00000365382,NR_001453.2;SNORD14D,downstream_gene_variant,,ENST00000384390,NR_001454.2;SNORD14E,downstream_gene_variant,,ENST00000364009,NR_003125.2;HSPA8,downstream_gene_variant,,ENST00000526862,;HSPA8,downstream_gene_variant,,ENST00000533238,;HSPA8,non_coding_transcript_exon_variant,,ENST00000532091,;HSPA8,downstream_gene_variant,,ENST00000527983,;HSPA8,downstream_gene_variant,,ENST00000532780,;HSPA8,downstream_gene_variant,,ENST00000531063,;HSPA8,downstream_gene_variant,,ENST00000532167,;							MODERATE	1895/1941	P632L	HSP7C_HUMAN			Transcript		possibly_damaging(0.713)	.	ENSP00000227378		CCDS8440.1			1	
ROBO3	0	LGGM	GRCh37	11	124748479	124748479	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	9	10	.	.	ENST00000397801.1:c.3321-1G>C		p.X1107_splice	ENST00000397801	NM_022370.3			0	1	1	UPI000035AA82	0		ENST00000397801		ENSG00000154134	13433		19			HGNC	-		ROBO3		SNV			1				ENST00000397801	protein_coding							C		-/4569				Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN			YES	ROBO3,splice_acceptor_variant,,ENST00000397801,NM_022370.3;ROBO3,splice_acceptor_variant,,ENST00000538940,;ROBO3,splice_acceptor_variant,,ENST00000543966,;ROBO3,splice_acceptor_variant,,ENST00000525482,;ROBO3,splice_acceptor_variant,,ENST00000528820,;ROBO3,splice_acceptor_variant,,ENST00000528144,;ROBO3,splice_acceptor_variant,,ENST00000526551,;ROBO3,intron_variant,,ENST00000531075,;ROBO3,downstream_gene_variant,,ENST00000532472,;ROBO3,downstream_gene_variant,,ENST00000531545,;ROBO3,splice_acceptor_variant,,ENST00000527245,;ROBO3,splice_acceptor_variant,,ENST00000529658,;ROBO3,splice_acceptor_variant,,ENST00000525448,;ROBO3,splice_acceptor_variant,,ENST00000527196,;ROBO3,splice_acceptor_variant,,ENST00000525304,;ROBO3,non_coding_transcript_exon_variant,,ENST00000524971,;ROBO3,downstream_gene_variant,,ENST00000534598,;ROBO3,downstream_gene_variant,,ENST00000528068,;ROBO3,downstream_gene_variant,,ENST00000531888,;ROBO3,downstream_gene_variant,,ENST00000530647,;ROBO3,downstream_gene_variant,,ENST00000531119,;							HIGH	3321/4161		ROBO3_HUMAN			Transcript			.	ENSP00000380903		CCDS44755.1			1	
TMEM135	0	LGGM	GRCh37	11	86782624	86782624	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	25	10	.	.	ENST00000305494.5:c.329C>A	p.Ser110Tyr	p.S110Y	ENST00000305494	NM_022918.3	110	tCt/tAt	0	1	1	UPI00001FB0C7	0	NA	ENST00000305494		ENSG00000166575	26167		35	2.265		HGNC	p.S110Y		TMEM135		SNV							ENST00000340353	protein_coding	getma.org/?cm=var&var=hg19,11,86782624,C,A&fts=all		hmmpanther:PTHR12459,hmmpanther:PTHR12459:SF4,Transmembrane_helices:TMhelix		S/Y		A	medium	368/2433		getma.org/?cm=msa&ty=f&p=TM135_HUMAN&rb=1&re=456&var=S110Y	deleterious(0)	Q7Z760_HUMAN,F5H254_HUMAN,B4DKZ1_HUMAN			YES	TMEM135,missense_variant,p.Ser110Tyr,ENST00000340353,NM_001168724.1;TMEM135,missense_variant,p.Ser110Tyr,ENST00000305494,NM_022918.3;TMEM135,missense_variant,p.Ser110Tyr,ENST00000355734,;TMEM135,missense_variant,p.Ser110Tyr,ENST00000525018,;TMEM135,5_prime_UTR_variant,,ENST00000535167,;TMEM135,intron_variant,,ENST00000532959,;TMEM135,intron_variant,,ENST00000526733,;TMEM135,non_coding_transcript_exon_variant,,ENST00000529023,;TMEM135,non_coding_transcript_exon_variant,,ENST00000531800,;							MODERATE	329/1377	S110Y	TM135_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000306344		CCDS8280.1			1	
CD38	0	LGGM	GRCh37	4	15780217	15780217	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	12	10	.	.	ENST00000226279.3:c.180C>T	p.Pro60=	p.P60=	ENST00000226279	NM_001775.2	60	ccC/ccT	0	1	1	UPI00000739C2	0		ENST00000226279		ENSG00000004468	1667		22			HGNC	p.P60P		CD38		SNV							ENST00000226279	protein_coding			hmmpanther:PTHR10912,hmmpanther:PTHR10912:SF5,Pfam_domain:PF02267,Gene3D:1.20.82.10,Superfamily_domains:SSF52309		P		T		317/5668				Q4FCX6_HUMAN,B4DMR7_HUMAN			YES	CD38,synonymous_variant,p.=,ENST00000226279,NM_001775.2;CD38,synonymous_variant,p.=,ENST00000502843,;CD38,non_coding_transcript_exon_variant,,ENST00000511430,;CD38,non_coding_transcript_exon_variant,,ENST00000506191,;							LOW	180/903		CD38_HUMAN			Transcript			.	ENSP00000226279		CCDS3417.1			1	
Unknown	0	LGGM	GRCh37	1	14507082	14507082	+		IGR	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	21	11	.	.								0	1	1		0							32				p.A92S				SNV							ENST00000412667								T																	MODIFIER									.						1	
GRIN2B	0	LGGM	GRCh37	12	13906700	13906700	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	26	11	.	.	ENST00000609686.1:c.561C>T	p.Arg187=	p.R187=	ENST00000609686	NM_000834.3	187	cgC/cgT	0	1	1	UPI000013026C	0		ENST00000609686		ENSG00000273079	4586		37			HGNC	p.R187R		GRIN2B		SNV			1				ENST00000279593	protein_coding			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		R		A		771/27217				Q59HA9_HUMAN			YES	GRIN2B,synonymous_variant,p.=,ENST00000609686,NM_000834.3;							LOW	561/4455		NMDE2_HUMAN			Transcript			.	ENSP00000477455		CCDS8662.1			1	
CDK13	0	LGGM	GRCh37	7	40102656	40102656	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	11	.	.	ENST00000181839.4:c.2737A>G	p.Ile913Val	p.I913V	ENST00000181839	NM_031267.3	913	Ata/Gta	0	1	1	UPI000013C5E3	0	getma.org/pdb.php?prot=CDK13_HUMAN&from=705&to=998&var=I913V	ENST00000181839		ENSG00000065883	1733	8.64E-05	35	0.94		HGNC	p.I913V	rs368244089,COSM746934	CDK13		SNV	G:0.0005			0.000387		0,1	ENST00000340829	protein_coding	getma.org/?cm=var&var=hg19,7,40102656,A,G&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF125,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V	G:0	G	low	3342/7298		getma.org/?cm=msa&ty=f&p=CDK13_HUMAN&rb=705&re=998&var=I913V	tolerated(0.05)				YES	CDK13,missense_variant,p.Ile913Val,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,missense_variant,p.Ile913Val,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;					0,1		MODERATE	2737/4539	I913V	CDK13_HUMAN			Transcript		benign(0.326)	.	ENSP00000181839	4.12E-05	CCDS5461.1			1	
IZUMO2	0	LGGM	GRCh37	19	50657972	50657972	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	16	11	.	.	ENST00000293405.3:c.508C>A	p.Pro170Thr	p.P170T	ENST00000293405	NM_152358.2	170	Ccc/Acc	0	1	1	UPI00001D6939	0	NA	ENST00000293405		ENSG00000161652	28518		27	0.805		HGNC	p.P170T		IZUMO2		SNV							ENST00000293405	protein_coding	getma.org/?cm=var&var=hg19,19,50657972,G,T&fts=all		Pfam_domain:PF15005,hmmpanther:PTHR26374		P/T		T	low	509/728		getma.org/?cm=msa&ty=f&p=IZUM2_HUMAN&rb=1&re=180&var=P170T	deleterious(0.01)				YES	IZUMO2,missense_variant,p.Pro158Thr,ENST00000600293,;IZUMO2,missense_variant,p.Pro170Thr,ENST00000293405,NM_152358.2;IZUMO2,3_prime_UTR_variant,,ENST00000486050,;							MODERATE	508/666	P170T	IZUM2_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000293405		CCDS12792.2			1	
SCN8A	0	LGGM	GRCh37	12	52162822	52162822	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	21	12	.	.	ENST00000354534.6:c.3075G>A	p.Gln1025=	p.Q1025=	ENST00000354534	NM_014191.3	1025	caG/caA	0	1	1	UPI000006FD85	0		ENST00000354534		ENSG00000196876	10596		33			HGNC	p.Q1025Q		SCN8A		SNV			1				ENST00000355133	protein_coding			Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132		Q		A		3253/11556				Q9P2Q6_HUMAN,Q8WWN3_HUMAN			YES	SCN8A,synonymous_variant,p.=,ENST00000354534,NM_014191.3,NM_001177984.2;SCN8A,synonymous_variant,p.=,ENST00000545061,;SCN8A,synonymous_variant,p.=,ENST00000355133,;SCN8A,downstream_gene_variant,,ENST00000550891,;							LOW	3075/5943		SCN8A_HUMAN			Transcript			.	ENSP00000346534		CCDS44891.1			1	
CP	0	LGGM	GRCh37	3	148930445	148930445	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	19	12	.	.	ENST00000264613.6:c.187A>G	p.Ile63Val	p.I63V	ENST00000264613	NM_000096.3	63	Att/Gtt	0	1	1	UPI000045718B	0	getma.org/pdb.php?prot=CERU_HUMAN&from=20&to=200&var=I63V	ENST00000264613		ENSG00000047457	2295		31	2.38		HGNC	p.I103V		CP		SNV			1				ENST00000455472	protein_coding	getma.org/?cm=var&var=hg19,3,148930445,T,C&fts=all		Gene3D:2.60.40.420,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF294,Superfamily_domains:SSF49503		I/V		C	medium	450/4676		getma.org/?cm=msa&ty=f&p=CERU_HUMAN&rb=20&re=200&var=I63V	tolerated(0.1)				YES	CP,missense_variant,p.Ile63Val,ENST00000264613,NM_000096.3;CP,missense_variant,p.Ile103Val,ENST00000455472,;CP,upstream_gene_variant,,ENST00000494544,;CP,missense_variant,p.Ile63Val,ENST00000481169,;CP,non_coding_transcript_exon_variant,,ENST00000490639,;							MODERATE	187/3198	I63V	CERU_HUMAN			Transcript		possibly_damaging(0.652)	.	ENSP00000264613		CCDS3141.1			1	
ZNF804B	0	LGGM	GRCh37	7	88964021	88964021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	22	13	.	.	ENST00000333190.4:c.1725G>A	p.Met575Ile	p.M575I	ENST00000333190	NM_181646.2	575	atG/atA	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		35	1.79		HGNC	p.M575I	rs764812300	ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88964021,G,A&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		M/I		A	low	2334/4659		getma.org/?cm=msa&ty=f&p=Z804B_HUMAN&rb=250&re=618&var=M575I	tolerated(0.45)				YES	ZNF804B,missense_variant,p.Met575Ile,ENST00000333190,NM_181646.2;	0.000464						MODERATE	1725/4050	M575I	Z804B_HUMAN			Transcript		benign(0.007)	common_variant	ENSP00000329638	3.29E-05	CCDS5613.1			1	
GUCY1A2	0	LGGM	GRCh37	11	106810872	106810872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	29	13	.	.	ENST00000282249.2:c.520G>T	p.Gly174Cys	p.G174C	ENST00000282249	NM_001256424.1	174	Ggt/Tgt	0	1		UPI0000128C17	0	NA	ENST00000526355		ENSG00000152402	4684		42	2.33		HGNC	p.G174C		GUCY1A2		SNV							ENST00000282249	protein_coding	getma.org/?cm=var&var=hg19,11,106810872,C,A&fts=all		Gene3D:3sj5A00,Pfam_domain:PF07700,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276,Superfamily_domains:SSF111126		G/C		A	medium	989/16205		getma.org/?cm=msa&ty=f&p=GCYA2_HUMAN&rb=113&re=276&var=G174C	deleterious(0)					GUCY1A2,missense_variant,p.Gly174Cys,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.Gly174Cys,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.Gly174Cys,ENST00000347596,;							MODERATE	520/2199	G174C	GCYA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000431245		CCDS8335.1			1	
SLAMF8	0	LGGM	GRCh37	1	159802864	159802864	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	61	13	.	.	ENST00000289707.5:c.566C>T	p.Ser189Phe	p.S189F	ENST00000289707	NM_020125.2	189	tCc/tTc	0	1	1	UPI000003E841	0	NA	ENST00000289707		ENSG00000158714	21391		74	2.25		HGNC	p.S189F		SLAMF8		SNV							ENST00000289707	protein_coding	getma.org/?cm=var&var=hg19,1,159802864,C,T&fts=all		Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF45,Superfamily_domains:SSF48726		S/F		T	medium	715/2996		getma.org/?cm=msa&ty=f&p=SLAF8_HUMAN&rb=127&re=205&var=S189F	deleterious(0)				YES	SLAMF8,missense_variant,p.Ser189Phe,ENST00000289707,NM_020125.2;SLAMF8,missense_variant,p.Ser80Phe,ENST00000368104,;C1orf204,downstream_gene_variant,,ENST00000368102,NM_001134233.1;SLAMF8,non_coding_transcript_exon_variant,,ENST00000471286,;SLAMF8,non_coding_transcript_exon_variant,,ENST00000497141,;C1orf204,downstream_gene_variant,,ENST00000491974,;							MODERATE	566/858	S189F	SLAF8_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000289707		CCDS1188.1			1	
PCDH18	0	LGGM	GRCh37	4	138453032	138453032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	44	13	.	.	ENST00000344876.4:c.211A>T	p.Arg71Trp	p.R71W	ENST00000344876	NM_019035.3	71	Agg/Tgg	0	1	1	UPI0000047A88	0	getma.org/pdb.php?prot=PCD18_HUMAN&from=28&to=113&var=R71W	ENST00000344876		ENSG00000189184	14268		57	2.045		HGNC	p.R71W		PCDH18		SNV							ENST00000412923	protein_coding	getma.org/?cm=var&var=hg19,4,138453032,T,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Pfam_domain:PF08266,SMART_domains:SM00112		R/W		A	medium	598/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=28&re=113&var=R71W	deleterious(0.04)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Arg71Trp,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Arg71Trp,ENST00000412923,;PCDH18,intron_variant,,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;							MODERATE	211/3408	R71W	PCD18_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000355082		CCDS34064.1			1	
U2SURP	0	LGGM	GRCh37	3	142741836	142741836	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	36	13	.	.	ENST00000473835.2:c.1160C>T	p.Pro387Leu	p.P387L	ENST00000473835	NM_001080415.1	387	cCt/cTt	0	1	1	UPI0000160746	0	NA	ENST00000473835		ENSG00000163714	30855		49	2.465		HGNC	p.P387L		U2SURP		SNV							ENST00000319822	protein_coding	getma.org/?cm=var&var=hg19,3,142741836,C,T&fts=all		hmmpanther:PTHR23140		P/L		T	medium	1250/7276		getma.org/?cm=msa&ty=f&p=SR140_HUMAN&rb=350&re=426&var=P387L	tolerated(0.06)	C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN			YES	U2SURP,missense_variant,p.Pro387Leu,ENST00000473835,NM_001080415.1;U2SURP,missense_variant,p.Pro386Leu,ENST00000493598,;U2SURP,5_prime_UTR_variant,,ENST00000397933,;U2SURP,upstream_gene_variant,,ENST00000480029,;U2SURP,missense_variant,p.Pro389Leu,ENST00000463563,;U2SURP,missense_variant,p.Pro387Leu,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,;							MODERATE	1160/3090	P387L	SR140_HUMAN			Transcript		benign(0.414)	.	ENSP00000418563		CCDS46928.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H072849	H072849N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	20	22	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		42			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
CEP192	0	LGGM	GRCh37	18	13056511	13056511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	12	14	.	.	ENST00000506447.1:c.3922G>A	p.Val1308Met	p.V1308M	ENST00000506447	NM_032142.3	1308	Gtg/Atg	0	1	1	UPI0001B09235	0	NA	ENST00000506447		ENSG00000101639	25515		26	1.935		HGNC	p.V908M		CEP192		SNV							ENST00000510237	protein_coding	getma.org/?cm=var&var=hg19,18,13056511,G,A&fts=all		hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		V/M		A	medium	4002/7960		getma.org/?cm=msa&ty=f&p=CE192_HUMAN&rb=6&re=1939&var=V712M	tolerated(0.08)	E9PF99_HUMAN			YES	CEP192,missense_variant,p.Val1308Met,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Val712Met,ENST00000325971,;CEP192,missense_variant,p.Val847Met,ENST00000511820,;CEP192,missense_variant,p.Val833Met,ENST00000430049,;CEP192,missense_variant,p.Val1049Met,ENST00000589596,;CEP192,missense_variant,p.Val908Met,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,upstream_gene_variant,,ENST00000589993,;CEP192,upstream_gene_variant,,ENST00000585938,;							MODERATE	3922/7614	V712M				Transcript		benign(0.409)	.	ENSP00000427550		CCDS32792.2			1	
HDAC8	0	LGGM	GRCh37	X	71792587	71792587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	22	15	.	.	ENST00000373573.3:c.25G>T	p.Asp9Tyr	p.D9Y	ENST00000373573	NM_018486.2	9	Gac/Tac	0	1	1	UPI00000411E6	0	NA	ENST00000373573		ENSG00000147099	13315		37	0.895		HGNC	p.D9Y		HDAC8		SNV			1				ENST00000373560	protein_coding	getma.org/?cm=var&var=hg19,X,71792587,C,A&fts=all		PIRSF_domain:PIRSF037913		D/Y		A	low	367/2014		getma.org/?cm=msa&ty=f&p=HDAC8_HUMAN&rb=1&re=50&var=D9Y	deleterious_low_confidence(0)	C9J8F0_HUMAN,B4DQE7_HUMAN			YES	HDAC8,missense_variant,p.Asp9Tyr,ENST00000439122,NM_001166419.1;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373571,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373573,NM_018486.2;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373589,NM_001166418.1;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373561,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373568,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000415409,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373554,NM_001166420.1;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373560,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373556,NM_001166422.1;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373559,NM_001166448.1;HDAC8,missense_variant,p.Asp9Tyr,ENST00000373583,;HDAC8,5_prime_UTR_variant,,ENST00000429103,;HDAC8,upstream_gene_variant,,ENST00000421523,;HDAC8,non_coding_transcript_exon_variant,,ENST00000478743,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000436675,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000412342,;HDAC8,missense_variant,p.Asp9Tyr,ENST00000444609,;HDAC8,non_coding_transcript_exon_variant,,ENST00000486704,;							MODERATE	25/1134	D9Y	HDAC8_HUMAN			Transcript		benign(0.259)	.	ENSP00000362674		CCDS14420.1			1	
PRDM6	0	LGGM	GRCh37	5	122491589	122491589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	76	16	.	.	ENST00000407847.4:c.912G>T	p.Gln304His	p.Q304H	ENST00000407847	NM_001136239.1	304	caG/caT	0	1	1	UPI0001610E83	0	getma.org/pdb.php?prot=PRDM6_HUMAN&from=259&to=365&var=Q304H	ENST00000407847		ENSG00000061455	9350		92	1.15		HGNC	p.Q304H		PRDM6		SNV							ENST00000407847	protein_coding	getma.org/?cm=var&var=hg19,5,122491589,G,T&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR11389:SF421,hmmpanther:PTHR11389,Gene3D:2.170.270.10,Pfam_domain:PF00856,SMART_domains:SM00317,Superfamily_domains:SSF82199		Q/H		T	low	1326/9267		getma.org/?cm=msa&ty=f&p=PRDM6_HUMAN&rb=259&re=365&var=Q304H	deleterious(0.04)				YES	PRDM6,missense_variant,p.Gln304His,ENST00000407847,NM_001136239.1;PRDM6,non_coding_transcript_exon_variant,,ENST00000464424,;PRDM6,intron_variant,,ENST00000434521,;							MODERATE	912/1788	Q304H	PRDM6_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000384725		CCDS47259.1			1	
HECTD1	0	LGGM	GRCh37	14	31626468	31626468	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	31	17	.	.	ENST00000399332.1:c.1664G>T	p.Cys555Phe	p.C555F	ENST00000399332	NM_015382.2	555	tGc/tTc	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		48	0		HGNC	p.C555F		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31626468,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75		C/F		A	neutral	2153/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=485&re=684&var=C555F	deleterious(0.03)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Cys555Phe,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Cys555Phe,ENST00000553700,;HECTD1,missense_variant,p.Cys29Phe,ENST00000553957,;HECTD1,missense_variant,p.Cys555Phe,ENST00000556224,;							MODERATE	1664/7833	C555F	HECD1_HUMAN			Transcript		benign(0.04)	.	ENSP00000382269		CCDS41939.1			1	
GSPT1	0	LGGM	GRCh37	16	11971278	11971278	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	49	17	.	.	ENST00000434724.2:c.1588A>G	p.Thr530Ala	p.T530A	ENST00000434724	NM_002094.3	530	Aca/Gca	0	1		UPI000012BC15	0	getma.org/pdb.php?prot=ERF3A_HUMAN&from=387&to=495&var=T392A	ENST00000420576		ENSG00000103342	4621		66	1.275		HGNC	p.T392A		GSPT1		SNV							ENST00000563468	protein_coding	getma.org/?cm=var&var=hg19,16,11971278,T,C&fts=all		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF125,Pfam_domain:PF03143,Gene3D:2.40.30.10,Superfamily_domains:SSF50465		T/A		C	low	1277/1603		getma.org/?cm=msa&ty=f&p=ERF3A_HUMAN&rb=387&re=495&var=T392A	tolerated(0.7)					GSPT1,missense_variant,p.Thr530Ala,ENST00000434724,NM_002094.3,NM_001130006.1;GSPT1,missense_variant,p.Thr529Ala,ENST00000439887,;GSPT1,missense_variant,p.Thr392Ala,ENST00000563468,;GSPT1,missense_variant,p.Thr398Ala,ENST00000565267,;GSPT1,missense_variant,p.Thr392Ala,ENST00000420576,NM_001130007.1;RP11-166B2.8,intron_variant,,ENST00000574364,;RP11-166B2.3,downstream_gene_variant,,ENST00000568144,;GSPT1,downstream_gene_variant,,ENST00000564790,;							MODERATE	1174/1500	T392A	ERF3A_HUMAN			Transcript		benign(0.038)	.	ENSP00000399539		CCDS45414.1			1	
KNCN	0	LGGM	GRCh37	1	47016770	47016770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	50	17	.	.	ENST00000396314.3:c.118A>G	p.Met40Val	p.M40V	ENST00000396314	NM_001097611.1	40	Atg/Gtg	0	1		UPI000155D48B	0		ENST00000481882		ENSG00000162456	26488		67			HGNC	p.M40V		KNCN		SNV							ENST00000481882	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF15033		M/V		C		430/1037			tolerated_low_confidence(1)					KNCN,missense_variant,p.Met40Val,ENST00000481882,;KNCN,missense_variant,p.Met40Val,ENST00000396314,NM_001097611.1;MKNK1-AS1,intron_variant,,ENST00000602433,;KNCN,upstream_gene_variant,,ENST00000524908,;KNCN,upstream_gene_variant,,ENST00000294445,;							MODERATE	118/375		KNCN_HUMAN			Transcript		benign(0.14)	.	ENSP00000419705					1	
SIMC1	0	LGGM	GRCh37	5	175716773	175716773	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	42	17	.	.	ENST00000341199.6:c.130-5260A>G		*44*	ENST00000341199	NM_198567.4			0	1		UPI000013E866	0		ENST00000443967		ENSG00000170085	24779		59			HGNC	p.L82L		SIMC1		SNV							ENST00000429602	protein_coding			hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3		L		G		596/3572								SIMC1,synonymous_variant,p.=,ENST00000443967,;SIMC1,synonymous_variant,p.=,ENST00000429602,;SIMC1,intron_variant,,ENST00000341199,NM_198567.4;SIMC1,intron_variant,,ENST00000430704,;SIMC1,non_coding_transcript_exon_variant,,ENST00000503595,;SIMC1,non_coding_transcript_exon_variant,,ENST00000514128,;SIMC1,non_coding_transcript_exon_variant,,ENST00000508769,;SIMC1,intron_variant,,ENST00000467472,;SIMC1,intron_variant,,ENST00000495423,;							LOW	189/2619		SIMC1_HUMAN			Transcript			.	ENSP00000406571					1	
ATP13A4	0	LGGM	GRCh37	3	193128782	193128782	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	46	17	.	.	ENST00000342695.4:c.3286A>T	p.Arg1096Ter	p.R1096*	ENST00000342695	NM_032279.2	1096	Aga/Tga	0	1	1	UPI0000520D50	0	NA	ENST00000342695		ENSG00000127249	25422		63	0		HGNC	p.R1096X		ATP13A4		SNV							ENST00000342695	protein_coding	getma.org/?cm=var&var=hg19,3,193128782,T,A&fts=all		hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473		R/*		A	NA	3609/4208		NA					YES	ATP13A4,stop_gained,p.Arg1096Ter,ENST00000342695,NM_032279.2;ATP13A4,stop_gained,p.Arg1077Ter,ENST00000392443,;ATP13A4,stop_gained,p.Arg112Ter,ENST00000400270,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000482964,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,3_prime_UTR_variant,,ENST00000428352,;							HIGH	3286/3591	R1096*	AT134_HUMAN			Transcript			.	ENSP00000339182		CCDS3304.2			1	
STRIP2	0	LGGM	GRCh37	7	129122797	129122797	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	38	18	.	.	ENST00000249344.2:c.2164C>T	p.Arg722Cys	p.R722C	ENST00000249344	NM_020704.2	722	Cgc/Tgc	0	1	1	UPI00001C1E68	0	NA	ENST00000249344		ENSG00000128578	22209		56	3.37		HGNC	p.R722C	rs749775543,COSM203670	STRIP2		SNV						0,1	ENST00000435494	protein_coding	getma.org/?cm=var&var=hg19,7,129122797,C,T&fts=all		Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		R/C		T	medium	2204/5115	1.50E-05	getma.org/?cm=msa&ty=f&p=FA40B_HUMAN&rb=412&re=813&var=R722C	deleterious(0)	A4D1K4_HUMAN			YES	STRIP2,missense_variant,p.Arg722Cys,ENST00000249344,NM_020704.2;STRIP2,missense_variant,p.Arg722Cys,ENST00000435494,NM_001134336.1;RNU1-72P,upstream_gene_variant,,ENST00000362976,;SNRPGP3,downstream_gene_variant,,ENST00000469405,;	0.000116				0,1		MODERATE	2164/2505	R722C	STRP2_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000249344	1.65E-05	CCDS34752.1			1	
CCT8L2	0	LGGM	GRCh37	22	17072102	17072102	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	28	19	.	.	ENST00000359963.3:c.1339T>C	p.Tyr447His	p.Y447H	ENST00000359963	NM_014406.4	447	Tat/Cat	0	1	1	UPI000006CF87	0	getma.org/pdb.php?prot=TCPQL_HUMAN&from=43&to=525&var=Y447H	ENST00000359963		ENSG00000198445	15553		47	0		HGNC	p.Y447H		CCT8L2		SNV							ENST00000359963	protein_coding	getma.org/?cm=var&var=hg19,22,17072102,A,G&fts=all		Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,hmmpanther:PTHR11353:SF70,hmmpanther:PTHR11353		Y/H		G	neutral	1599/2034		getma.org/?cm=msa&ty=f&p=TCPQL_HUMAN&rb=43&re=525&var=Y447H	deleterious(0.02)				YES	CCT8L2,missense_variant,p.Tyr447His,ENST00000359963,NM_014406.4;FABP5P11,downstream_gene_variant,,ENST00000430910,;							MODERATE	1339/1674	Y447H	TCPQM_HUMAN			Transcript		benign(0.014)	.	ENSP00000353048		CCDS13738.1			1	
SLC6A15	0	LGGM	GRCh37	12	85257316	85257316	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	37	20	.	.	ENST00000266682.5:c.1720A>G	p.Lys574Glu	p.K574E	ENST00000266682	NM_182767.5	574	Aaa/Gaa	0	1	1	UPI0000038BF2	0	NA	ENST00000266682		ENSG00000072041	13621		57	3.48		HGNC	p.K467E		SLC6A15		SNV							ENST00000552192	protein_coding	getma.org/?cm=var&var=hg19,12,85257316,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		K/E		C	medium	2262/4044		getma.org/?cm=msa&ty=f&p=S6A15_HUMAN&rb=61&re=644&var=K574E	deleterious(0)	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN			YES	SLC6A15,missense_variant,p.Lys574Glu,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Lys282Glu,ENST00000309283,;SLC6A15,missense_variant,p.Lys467Glu,ENST00000552192,NM_001146335.2;SLC6A15,non_coding_transcript_exon_variant,,ENST00000548267,;							MODERATE	1720/2193	K574E	S6A15_HUMAN			Transcript		possibly_damaging(0.721)	.	ENSP00000266682		CCDS9026.1			1	
MUC16	0	LGGM	GRCh37	19	9047016	9047016	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	42	20	.	.	ENST00000397910.4:c.34615T>A	p.Ser11539Thr	p.S11539T	ENST00000397910	NM_024690.2	11539	Tca/Aca	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		62	1.895		HGNC	p.S11539T		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9047016,A,T&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		S/T		T	low	34819/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=11464&re=11663&var=S11541T		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser11539Thr,ENST00000397910,NM_024690.2;							MODERATE	34615/43524	S11541T				Transcript		benign(0.203)	.	ENSP00000381008		CCDS54212.1			1	
NCAM1	0	LGGM	GRCh37	11	113106018	113106018	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	31	20	.	.	ENST00000524665.1:c.1972+132G>T		*658*	ENST00000524665	NM_000615.6			0	1		UPI0002065586	0		ENST00000316851		ENSG00000149294	7656		51			HGNC	p.Q608H		NCAM1		SNV							ENST00000401611	protein_coding							T		-/5571								NCAM1,missense_variant,p.Gln608His,ENST00000401611,;NCAM1,intron_variant,,ENST00000316851,NM_181351.4,NM_001242607.1;NCAM1,intron_variant,,ENST00000533760,NM_001242608.1;NCAM1,intron_variant,,ENST00000524665,NM_000615.6;NCAM1,intron_variant,,ENST00000534015,NM_001076682.3;NCAM1,intron_variant,,ENST00000397957,;NCAM1,intron_variant,,ENST00000531044,;NCAM1,intron_variant,,ENST00000531915,;NCAM1,intron_variant,,ENST00000527506,;NCAM1,intron_variant,,ENST00000533073,;NCAM1,intron_variant,,ENST00000526322,;NCAM1,intron_variant,,ENST00000528590,;NCAM1,intron_variant,,ENST00000530543,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,downstream_gene_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000531817,;NCAM1,intron_variant,,ENST00000525355,;NCAM1,downstream_gene_variant,,ENST00000534046,;							MODIFIER	-/2547					Transcript			.	ENSP00000318472					1	
MTNR1A	0	LGGM	GRCh37	4	187455036	187455036	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	34	20	.	.	ENST00000307161.5:c.860A>G	p.Asn287Ser	p.N287S	ENST00000307161	NM_005958.3	287	aAc/aGc	0	1	1	UPI0000050407	0	getma.org/pdb.php?prot=MTR1A_HUMAN&from=44&to=295&var=N287S	ENST00000307161		ENSG00000168412	7463		54	2.595		HGNC	p.N287S		MTNR1A		SNV							ENST00000307161	protein_coding	getma.org/?cm=var&var=hg19,4,187455036,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		N/S		C	medium	1062/1289		getma.org/?cm=msa&ty=f&p=MTR1A_HUMAN&rb=44&re=295&var=N287S	deleterious(0.02)				YES	MTNR1A,missense_variant,p.Asn287Ser,ENST00000307161,NM_005958.3;RP11-215A19.2,intron_variant,,ENST00000509111,;							MODERATE	860/1053	N287S	MTR1A_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000302811		CCDS3848.1			1	
ADD1	0	LGGM	GRCh37	4	2909489	2909489	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	37	21	.	.	ENST00000264758.7:c.1526A>T	p.His509Leu	p.H509L	ENST00000264758	NM_014189.3	509	cAt/cTt	0	1		UPI0000125501	0	NA	ENST00000398129		ENSG00000087274	243		58	-0.69		HGNC	p.H509L		ADD1		SNV							ENST00000398123	protein_coding	getma.org/?cm=var&var=hg19,4,2909489,A,T&fts=all		hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF4		H/L		T	neutral	1453/3787		getma.org/?cm=msa&ty=f&p=ADDA_HUMAN&rb=330&re=529&var=H478L	tolerated(0.32)	Q4TT76_HUMAN,D6RAH3_HUMAN				ADD1,missense_variant,p.His478Leu,ENST00000355842,NM_001286645.1;ADD1,missense_variant,p.His509Leu,ENST00000398125,NM_176801.2,NM_014190.3;ADD1,missense_variant,p.His509Leu,ENST00000264758,NM_014189.3;ADD1,missense_variant,p.His478Leu,ENST00000446856,NM_001119.4;ADD1,missense_variant,p.His478Leu,ENST00000398129,;ADD1,missense_variant,p.His509Leu,ENST00000503455,;ADD1,missense_variant,p.His478Leu,ENST00000513328,;ADD1,missense_variant,p.His509Leu,ENST00000398123,;ADD1,missense_variant,p.His215Leu,ENST00000514940,;ADD1,upstream_gene_variant,,ENST00000536424,;ADD1,non_coding_transcript_exon_variant,,ENST00000513762,;ADD1,non_coding_transcript_exon_variant,,ENST00000541051,;ADD1,non_coding_transcript_exon_variant,,ENST00000536078,;ADD1,downstream_gene_variant,,ENST00000506157,;ADD1,downstream_gene_variant,,ENST00000503169,;							MODERATE	1433/2214	H478L	ADDA_HUMAN			Transcript		benign(0.005)	.	ENSP00000381197		CCDS43205.1			1	
TRIP12	0	LGGM	GRCh37	2	230653629	230653629	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	14	21	.	.	ENST00000283943.5:c.4498A>G	p.Thr1500Ala	p.T1500A	ENST00000283943	NM_004238.1	1500	Act/Gct	0	1	1	UPI000013739D	0	NA	ENST00000283943		ENSG00000153827	12306		35	-0.425		HGNC	p.T1548A		TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230653629,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		T/A		C	neutral	4677/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=945&re=1627&var=T1500A	tolerated(0.73)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Thr1500Ala,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Thr1548Ala,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Thr1230Ala,ENST00000389045,NM_001284216.1;TRIP12,downstream_gene_variant,,ENST00000495322,;TRIP12,downstream_gene_variant,,ENST00000470302,;							MODERATE	4498/5979	T1500A	TRIPC_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000283943		CCDS33391.1			1	
KRT85	0	LGGM	GRCh37	12	52757926	52757926	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	44	21	.	.	ENST00000257901.3:c.712C>A	p.Arg238=	p.R238=	ENST00000257901	NM_002283.3	238	Cgg/Agg	0	1	1	UPI000006EB3B	0		ENST00000257901		ENSG00000135443	6462		65			HGNC	p.R26R	rs368849863	KRT85		SNV	A:0.0002		1				ENST00000544265	protein_coding			Pfam_domain:PF00038,hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239		R	A:0	T		788/2447	4.50E-05						YES	KRT85,synonymous_variant,p.=,ENST00000257901,NM_002283.3;KRT85,synonymous_variant,p.=,ENST00000544265,;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;							LOW	712/1524		KRT85_HUMAN			Transcript			.	ENSP00000257901	2.47E-05	CCDS8824.1			1	
TP53	0	LGGM	GRCh37	17	7579592	7579592	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	24	22	.	.	ENST00000269305.4:c.97-2A>T		p.X33_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		46			HGNC	-	TP53_g.11326A>T,COSM44610,COSM131532,COSM131533	TP53		SNV			1			0,1,1,1	ENST00000413465	protein_coding							A		-/2579				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			YES	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,,ENST00000508793,;TP53,splice_acceptor_variant,,ENST00000604348,;TP53,splice_acceptor_variant,,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_acceptor_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;					0,1,1,1		HIGH	97/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
MED17	0	LGGM	GRCh37	11	93523777	93523777	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	50	22	.	.	ENST00000251871.3:c.455C>A	p.Ser152Ter	p.S152*	ENST00000251871	NM_004268.4	152	tCa/tAa	0	1	1	UPI000013CD1D	0	NA	ENST00000251871		ENSG00000042429	2375		72	0		HGNC	p.S152X		MED17		SNV			1				ENST00000251871	protein_coding	getma.org/?cm=var&var=hg19,11,93523777,C,A&fts=all		Pfam_domain:PF10156,hmmpanther:PTHR13114		S/*		A	NA	742/4874		NA		E9PJZ4_HUMAN			YES	MED17,stop_gained,p.Ser152Ter,ENST00000251871,NM_004268.4;MED17,stop_gained,p.Ser180Ter,ENST00000533359,;MED17,stop_gained,p.Ser44Ter,ENST00000528786,;MED17,downstream_gene_variant,,ENST00000530819,;MED17,upstream_gene_variant,,ENST00000533367,;MED17,stop_gained,p.Ser152Ter,ENST00000533133,;MED17,non_coding_transcript_exon_variant,,ENST00000525026,;MED17,upstream_gene_variant,,ENST00000531920,;MED17,upstream_gene_variant,,ENST00000507258,;							HIGH	455/1956	S152*	MED17_HUMAN			Transcript			.	ENSP00000251871		CCDS8295.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84700132	84700132	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	34	22	.	.	ENST00000286744.5:c.4702C>T	p.His1568Tyr	p.H1568Y	ENST00000286744	NM_207517.2	1568	Cac/Tac	0	1	1	UPI00001615A5	0	NA	ENST00000286744		ENSG00000156218	14633		56	1.21		HGNC	p.H1568Y		ADAMTSL3		SNV							ENST00000567476	protein_coding	getma.org/?cm=var&var=hg19,15,84700132,C,T&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169		H/Y		T	low	4926/7336		getma.org/?cm=msa&ty=f&p=ATL3_HUMAN&rb=1545&re=1657&var=H1568Y	tolerated(0.54)				YES	ADAMTSL3,missense_variant,p.His1568Tyr,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.His1568Tyr,ENST00000567476,;							MODERATE	4702/5076	H1568Y	ATL3_HUMAN			Transcript		benign(0.007)	.	ENSP00000286744		CCDS10326.1			1	
CCDC174	0	LGGM	GRCh37	3	14697115	14697115	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	40	22	.	.	ENST00000383794.3:c.227A>T	p.Gln76Leu	p.Q76L	ENST00000383794	NM_016474.4	76	cAg/cTg	0	1	1	UPI00004120DD	0	NA	ENST00000383794		ENSG00000154781	28033		62	1.04		HGNC	p.Q76L		CCDC174		SNV							ENST00000303688	protein_coding	getma.org/?cm=var&var=hg19,3,14697115,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15885		Q/L		T	low	300/2942		getma.org/?cm=msa&ty=f&p=CC019_HUMAN&rb=1&re=200&var=Q76L	deleterious(0.03)				YES	CCDC174,missense_variant,p.Gln76Leu,ENST00000383794,NM_016474.4;CCDC174,missense_variant,p.Gln76Leu,ENST00000303688,;CCDC174,non_coding_transcript_exon_variant,,ENST00000465759,;CCDC174,non_coding_transcript_exon_variant,,ENST00000463438,;							MODERATE	227/1404	Q76L	CC174_HUMAN			Transcript		benign(0.092)	.	ENSP00000373304		CCDS2620.2			1	
SMPX	0	LGGM	GRCh37	X	21761936	21761936	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	43	22	.	.	ENST00000379494.3:c.64A>G	p.Met22Val	p.M22V	ENST00000379494	NM_014332.2	22	Atg/Gtg	0	1	1	UPI0000135AC7	0		ENST00000379494		ENSG00000091482	11122		65			HGNC	p.M22V		SMPX		SNV			1				ENST00000379494	protein_coding			hmmpanther:PTHR17416,Pfam_domain:PF15355		M/V		C		298/938			deleterious_low_confidence(0)				YES	SMPX,missense_variant,p.Met22Val,ENST00000379494,NM_014332.2;SMPX,non_coding_transcript_exon_variant,,ENST00000494525,;							MODERATE	64/267		SMPX_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000368808		CCDS14200.1			1	
ZNF208	0	LGGM	GRCh37	19	22156015	22156015	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	45	24	.	.	ENST00000397126.4:c.1821A>C	p.Lys607Asn	p.K607N	ENST00000397126	NM_007153.3	607	aaA/aaC	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		69			HGNC	p.K607N	COSM1233684,COSM1233683,COSM1233685	ZNF208		SNV						1,1,1	ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		K/N		G		1970/3992			deleterious(0.02)				YES	ZNF208,missense_variant,p.Lys607Asn,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;					1,1,1		MODERATE	1821/3843		ZN208_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000380315		CCDS54240.1			1	
ROCK1	0	LGGM	GRCh37	18	18534870	18534870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	119	25	.	.	ENST00000399799.2:c.3727G>T	p.Asp1243Tyr	p.D1243Y	ENST00000399799	NM_005406.2	1243	Gat/Tat	0	1	1	UPI000006F0A4	0	getma.org/pdb.php?prot=ROCK1_HUMAN&from=1119&to=1316&var=D1243Y	ENST00000399799		ENSG00000067900	10251		144	1.47		HGNC	p.D1243Y		ROCK1		SNV							ENST00000399799	protein_coding	getma.org/?cm=var&var=hg19,18,18534870,C,A&fts=all		PROSITE_profiles:PS50003,PROSITE_profiles:PS50081,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,Gene3D:3.30.60.20,Pfam_domain:PF00169,SMART_domains:SM00233,PIRSF_domain:PIRSF037568,SMART_domains:SM00109,Superfamily_domains:SSF57889		D/Y		A	low	4668/9484		getma.org/?cm=msa&ty=f&p=ROCK1_HUMAN&rb=1119&re=1316&var=D1243Y	deleterious(0)				YES	ROCK1,missense_variant,p.Asp1243Tyr,ENST00000399799,NM_005406.2;ROCK1,upstream_gene_variant,,ENST00000578051,;ROCK1,non_coding_transcript_exon_variant,,ENST00000584687,;							MODERATE	3727/4065	D1243Y	ROCK1_HUMAN			Transcript		possibly_damaging(0.603)	.	ENSP00000382697		CCDS11870.2			1	
FAT2	0	LGGM	GRCh37	5	150925456	150925456	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072849	H072849N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	40	26	.	.	ENST00000261800.5:c.5232G>T	p.Val1744=	p.V1744=	ENST00000261800	NM_001447.2	1744	gtG/gtT	0	1	1	UPI0000055B22	0		ENST00000261800		ENSG00000086570	3596		66			HGNC	p.V1744V		FAT2		SNV							ENST00000261800	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		A		5245/14534							YES	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;							LOW	5232/13050		FAT2_HUMAN			Transcript			.	ENSP00000261800		CCDS4317.1			1	
ROCK1	0	LGGM	GRCh37	18	18586556	18586556	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	64	27	.	.	ENST00000399799.2:c.1641A>G	p.Leu547=	p.L547=	ENST00000399799	NM_005406.2	547	ctA/ctG	0	1	1	UPI000006F0A4	0		ENST00000399799		ENSG00000067900	10251		91			HGNC	p.L547L	rs375852822	ROCK1		SNV	C:0						ENST00000399799	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568		L	C:0.0001	C		2582/9484							YES	ROCK1,splice_region_variant,p.=,ENST00000399799,NM_005406.2;							LOW	1641/4065		ROCK1_HUMAN			Transcript			.	ENSP00000382697		CCDS11870.2			1	
CENPC	0	LGGM	GRCh37	4	68385015	68385015	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	73	28	.	.	ENST00000273853.6:c.537A>T	p.Gln179His	p.Q179H	ENST00000273853	NM_001812.2	179	caA/caT	0	1	1	UPI00004135A3	0	NA	ENST00000273853		ENSG00000145241	1854		101	1.32		HGNC	p.Q179H		CENPC		SNV							ENST00000506882	protein_coding	getma.org/?cm=var&var=hg19,4,68385015,T,A&fts=all		hmmpanther:PTHR16684,Pfam_domain:PF15622		Q/H		A	low	788/3885		getma.org/?cm=msa&ty=f&p=CENPC_HUMAN&rb=1&re=282&var=Q179H	tolerated(0.06)				YES	CENPC,missense_variant,p.Gln179His,ENST00000273853,NM_001812.2;CENPC,missense_variant,p.Gln179His,ENST00000506882,;CENPC,missense_variant,p.Gln86His,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;							MODERATE	537/2832	Q179H	CENPC_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000273853		CCDS47063.1			1	
CENPC	0	LGGM	GRCh37	4	68385014	68385014	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	74	28	.	.	ENST00000273853.6:c.538A>T	p.Lys180Ter	p.K180*	ENST00000273853	NM_001812.2	180	Aag/Tag	0	1	1	UPI00004135A3	0	NA	ENST00000273853		ENSG00000145241	1854		102	0		HGNC	p.K180X		CENPC		SNV							ENST00000506882	protein_coding	getma.org/?cm=var&var=hg19,4,68385014,T,A&fts=all		hmmpanther:PTHR16684,Pfam_domain:PF15622		K/*		A	NA	789/3885		NA					YES	CENPC,stop_gained,p.Lys180Ter,ENST00000273853,NM_001812.2;CENPC,stop_gained,p.Lys180Ter,ENST00000506882,;CENPC,stop_gained,p.Lys87Ter,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;							HIGH	538/2832	K180*	CENPC_HUMAN			Transcript			.	ENSP00000273853		CCDS47063.1			1	
FBXO10	0	LGGM	GRCh37	9	37541212	37541212	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	63	29	.	.	ENST00000432825.2:c.554C>T	p.Thr185Met	p.T185M	ENST00000432825	NM_012166.2	185	aCg/aTg	0	1	1	UPI00001C1EC6	0	NA	ENST00000432825		ENSG00000147912	13589		92	-0.975		HGNC	p.T185M	rs368530132	FBXO10		SNV	A:0						ENST00000276960	protein_coding	getma.org/?cm=var&var=hg19,9,37541212,G,A&fts=all		hmmpanther:PTHR22990,Gene3D:2.160.20.10,Superfamily_domains:SSF51126		T/M	A:0.0001	A	neutral	603/4575		getma.org/?cm=msa&ty=f&p=FBX10_HUMAN&rb=49&re=248&var=T185M	tolerated(1)	Q08AL4_HUMAN,F5GXN9_HUMAN			YES	FBXO10,missense_variant,p.Thr185Met,ENST00000432825,NM_012166.2;FBXO10,intron_variant,,ENST00000541829,;FBXO10,downstream_gene_variant,,ENST00000541607,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,missense_variant,p.Thr185Met,ENST00000276960,;RP11-613M10.8,downstream_gene_variant,,ENST00000537239,;	0.000116						MODERATE	554/2871	T185M	FBX10_HUMAN			Transcript		benign(0)	.	ENSP00000403802	8.26E-06	CCDS47966.1			1	
MGA	0	LGGM	GRCh37	15	42058701	42058701	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	71	29	.	.	ENST00000219905.7:c.8421T>C	p.Ser2807=	p.S2807=	ENST00000219905	NM_001164273.1	2807	agT/agC	0	1	1	UPI0001B2337E	0		ENST00000219905		ENSG00000174197	14010		100			HGNC	p.S2807S		MGA		SNV							ENST00000570161	protein_coding					S		C		8602/12042				H3BTF4_HUMAN,H3BP52_HUMAN			YES	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,;							LOW	8421/9198		MGAP_HUMAN			Transcript			.	ENSP00000219905		CCDS55959.1			1	
RGS1	0	LGGM	GRCh37	1	192547531	192547531	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	27	30	.	.	ENST00000367459.3:c.444+16A>G		*148*	ENST00000367459	NM_002922.3			0	1	1	UPI0000169CF2	0		ENST00000367459		ENSG00000090104	9991		57			HGNC	p.I154V	rs371061702	RGS1		SNV	G:0.0005			0.000297			ENST00000469578	protein_coding						G:0	G		-/1405							YES	RGS1,missense_variant,p.Ile154Val,ENST00000469578,;RGS1,intron_variant,,ENST00000367459,NM_002922.3;RGS1,intron_variant,,ENST00000498352,;RGS1,downstream_gene_variant,,ENST00000474373,;RGS1,downstream_gene_variant,,ENST00000583155,;RGS1,downstream_gene_variant,,ENST00000462589,;							MODIFIER	-/630		RGS1_HUMAN			Transcript			.	ENSP00000356429	2.47E-05	CCDS1375.2			1	
ALPK2	0	LGGM	GRCh37	18	56247632	56247632	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	67	32	.	.	ENST00000361673.3:c.376A>C	p.Lys126Gln	p.K126Q	ENST00000361673	NM_052947.3	126	Aaa/Caa	0	1	1	UPI000022A768	0	NA	ENST00000361673		ENSG00000198796	20565		99	1.1		HGNC	p.K126Q		ALPK2		SNV							ENST00000361673	protein_coding	getma.org/?cm=var&var=hg19,18,56247632,T,G&fts=all		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6		K/Q		G	low	590/7303		getma.org/?cm=msa&ty=f&p=ALPK2_HUMAN&rb=105&re=665&var=K126Q	tolerated(0.13)				YES	ALPK2,missense_variant,p.Lys126Gln,ENST00000361673,NM_052947.3;ALPK2,non_coding_transcript_exon_variant,,ENST00000590642,;ALPK2,upstream_gene_variant,,ENST00000587399,;ALPK2,upstream_gene_variant,,ENST00000587842,;ALPK2,upstream_gene_variant,,ENST00000590662,;							MODERATE	376/6513	K126Q	ALPK2_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000354991		CCDS11966.2			1	
STK3	0	LGGM	GRCh37	8	99718786	99718786	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	112	33	.	.	ENST00000523601.1:c.677A>G	p.Tyr226Cys	p.Y226C	ENST00000523601	NM_001256312.1	226	tAt/tGt	0	1		UPI000006FDDC	0	getma.org/pdb.php?prot=STK3_HUMAN&from=27&to=278&var=Y198C	ENST00000419617		ENSG00000104375	11406		145	2		HGNC	p.Y226C	rs775418746	STK3		SNV							ENST00000523601	protein_coding	getma.org/?cm=var&var=hg19,8,99718786,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF247,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/C		C	medium	734/2820		getma.org/?cm=msa&ty=f&p=STK3_HUMAN&rb=27&re=278&var=Y198C	deleterious(0)					STK3,missense_variant,p.Tyr226Cys,ENST00000523601,NM_001256312.1;STK3,missense_variant,p.Tyr198Cys,ENST00000419617,NM_006281.3;STK3,intron_variant,,ENST00000518165,;STK3,3_prime_UTR_variant,,ENST00000424861,;STK3,intron_variant,,ENST00000521649,;							MODERATE	593/1476	Y198C	STK3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000390500		CCDS47900.1			1	
CXorf30	0	LGGM	GRCh37	X	36402996	36402996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	59	33	.	.	ENST00000378657.4:c.1777G>T	p.Ala593Ser	p.A593S	ENST00000378657	NM_001098843.4	593	Gct/Tct	0	1	1	UPI0001642840	0	NA	ENST00000378657		ENSG00000205081	27298		92	0.27		HGNC	p.A593S		CXorf30		SNV							ENST00000378657	protein_coding	getma.org/?cm=var&var=hg19,X,36402996,G,T&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF7		A/S		T	neutral	2425/2860		getma.org/?cm=msa&ty=f&p=CX030_HUMAN&rb=1&re=631&var=A593S	tolerated(1)				YES	CXorf30,missense_variant,p.Ala593Ser,ENST00000378657,NM_001098843.4;CXorf30,missense_variant,p.Ala878Ser,ENST00000378653,;RP11-87M18.2,intron_variant,,ENST00000455438,;							MODERATE	1777/1902	A593S	CX030_HUMAN			Transcript		benign(0.007)	.	ENSP00000367926		CCDS55396.1			1	
ZPLD1	0	LGGM	GRCh37	3	102196296	102196296	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072849	H072849N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	74	40	.	.	ENST00000306176.1:c.1130G>A	p.Ser377Asn	p.S377N	ENST00000306176	NM_175056.1	377	aGt/aAt	0	1		UPI0000209EBE	0	NA	ENST00000466937		ENSG00000170044	27022		114	-0.145		HGNC	p.S377N		ZPLD1		SNV							ENST00000306176	protein_coding	getma.org/?cm=var&var=hg19,3,102196296,G,A&fts=all		hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962		S/N		A	neutral	1326/1531		getma.org/?cm=msa&ty=f&p=ZPLD1_HUMAN&rb=317&re=415&var=S361N	tolerated(0.82)					ZPLD1,missense_variant,p.Ser377Asn,ENST00000306176,NM_175056.1;ZPLD1,missense_variant,p.Ser361Asn,ENST00000491959,;ZPLD1,missense_variant,p.Ser361Asn,ENST00000466937,;							MODERATE	1082/1248	S361N	ZPLD1_HUMAN			Transcript		benign(0)	.	ENSP00000418253					1	
NPAP1	0	LGGM	GRCh37	15	24922511	24922511	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	75	41	.	.	ENST00000329468.2:c.1497A>G	p.Thr499=	p.T499=	ENST00000329468	NM_018958.2	499	acA/acG	0	1	1	UPI00001AFA1B	0		ENST00000329468		ENSG00000185823	1190		116			HGNC	p.T499T		NPAP1		SNV							ENST00000329468	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		T		G		1971/8053							YES	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;							LOW	1497/3471		NPAP1_HUMAN			Transcript			.	ENSP00000333735		CCDS10015.1			1	
NHS	0	LGGM	GRCh37	X	17745097	17745097	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	103	42	.	.	ENST00000380060.3:c.2808T>A	p.Asn936Lys	p.N936K	ENST00000380060	NM_198270.2	936	aaT/aaA	0	1	1	UPI00001DFBF3	0	NA	ENST00000380060		ENSG00000188158	7820		145	1.845		HGNC	p.N936K		NHS		SNV			1				ENST00000380060	protein_coding	getma.org/?cm=var&var=hg19,X,17745097,T,A&fts=all		hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039,Pfam_domain:PF15273		N/K		A	low	3146/8761		getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=N936K	deleterious(0)				YES	NHS,missense_variant,p.Asn936Lys,ENST00000380060,NM_198270.2;NHS,missense_variant,p.Asn780Lys,ENST00000398097,NM_001136024.2;NHS,downstream_gene_variant,,ENST00000485305,;							MODERATE	2808/4893	N936K	NHS_HUMAN			Transcript		possibly_damaging(0.575)	.	ENSP00000369400		CCDS14181.1			1	
GPR180	0	LGGM	GRCh37	13	95279265	95279265	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	31	43	.	.	ENST00000376958.4:c.1165-2A>T		p.X389_splice	ENST00000376958	NM_180989.5			0	1	1	UPI00001969C8	0		ENST00000376958		ENSG00000152749	28899		74			HGNC	-		GPR180		SNV							ENST00000376958	protein_coding							T		-/8822							YES	GPR180,splice_acceptor_variant,,ENST00000376958,NM_180989.5;							HIGH	1165/1323		GP180_HUMAN			Transcript			.	ENSP00000366157		CCDS9472.1			1	
OXCT1	0	LGGM	GRCh37	5	41803169	41803169	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	35	44	.	.	ENST00000196371.5:c.1050+2T>G		p.X350_splice	ENST00000196371	NM_000436.3			0	1	1	UPI0000000C9A	0		ENST00000196371		ENSG00000083720	8527		79			HGNC	-		OXCT1		SNV			1				ENST00000196371	protein_coding							C		-/3388				B7Z528_HUMAN,A1E286_HUMAN			YES	OXCT1,splice_donor_variant,,ENST00000196371,NM_000436.3;OXCT1,splice_donor_variant,,ENST00000509987,;OXCT1,intron_variant,,ENST00000514723,;							HIGH	1050/1563		SCOT1_HUMAN			Transcript			.	ENSP00000196371		CCDS3937.1			1	
ADTRP	0	LGGM	GRCh37	6	11723679	11723679	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	139	48	.	.	ENST00000229583.5:c.615A>G	p.Lys205=	p.K205=	ENST00000229583	NM_001143948.1	205	aaA/aaG	0	1		UPI000006EFCD	0		ENST00000414691		ENSG00000111863	21214		187			HGNC	p.K205K		ADTRP		SNV							ENST00000229583	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10989,hmmpanther:PTHR10989:SF15,Pfam_domain:PF04750		K		C		972/2058				D6R9E5_HUMAN,D6R9A9_HUMAN				ADTRP,synonymous_variant,p.=,ENST00000414691,NM_032744.3;ADTRP,synonymous_variant,p.=,ENST00000379413,;ADTRP,synonymous_variant,p.=,ENST00000229583,NM_001143948.1;ADTRP,synonymous_variant,p.=,ENST00000503285,;ADTRP,non_coding_transcript_exon_variant,,ENST00000514824,;ADTRP,non_coding_transcript_exon_variant,,ENST00000513651,;ADTRP,non_coding_transcript_exon_variant,,ENST00000512139,;ADTRP,synonymous_variant,p.=,ENST00000505099,;							LOW	561/693		ADTRP_HUMAN			Transcript			.	ENSP00000404416		CCDS4521.1			1	
EPB41L3	0	LGGM	GRCh37	18	5428433	5428433	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072849	H072849N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	67	54	.	.	ENST00000341928.2:c.944T>A	p.Val315Asp	p.V315D	ENST00000341928	NM_012307.3	315	gTt/gAt	0	1	1	UPI0000129AFA	0	getma.org/pdb.php?prot=E41L3_HUMAN&from=305&to=395&var=V315D	ENST00000341928		ENSG00000082397	3380		121	3.585		HGNC	p.V315D		EPB41L3		SNV							ENST00000341928	protein_coding	getma.org/?cm=var&var=hg19,18,5428433,A,T&fts=all		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		V/D		T	high	1285/4706		getma.org/?cm=msa&ty=f&p=E41L3_HUMAN&rb=305&re=395&var=V315D	deleterious(0)	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN			YES	EPB41L3,missense_variant,p.Val315Asp,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Val315Asp,ENST00000342933,;EPB41L3,missense_variant,p.Val315Asp,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Val315Asp,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Val315Asp,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,;							MODERATE	944/3264	V315D	E41L3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343158		CCDS11838.1			1	
PTCHD4	0	LGGM	GRCh37	6	47846343	47846343	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	47	54	.	.	ENST00000339488.4:c.2237A>G	p.Gln746Arg	p.Q746R	ENST00000339488	NM_001013732.3	746	cAa/cGa	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		101	0.84		HGNC	p.Q746R		PTCHD4		SNV							ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,47846343,T,C&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866		Q/R		C	low	2271/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=601&re=800&var=Q746R	tolerated(0.83)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Gln746Arg,ENST00000339488,NM_001013732.3;							MODERATE	2237/2541	Q746R	PTHD4_HUMAN			Transcript		benign(0.226)	.	ENSP00000341914		CCDS34473.2			1	
KDELC1	0	LGGM	GRCh37	13	103441375	103441375	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072849	H072849N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072849N.bam, H072849T.bam	Illumina HiSeq	54	75	.	.	ENST00000376004.4:c.1280A>G	p.Asp427Gly	p.D427G	ENST00000376004	NM_024089.2	427	gAt/gGt	0	1	1	UPI000004C663	0	NA	ENST00000376004		ENSG00000134901	19350		129	0.345		HGNC	p.D427G		KDELC1		SNV							ENST00000376004	protein_coding	getma.org/?cm=var&var=hg19,13,103441375,T,C&fts=all		hmmpanther:PTHR12203:SF21,hmmpanther:PTHR12203,Pfam_domain:PF05686,SMART_domains:SM00672		D/G		C	neutral	1617/2060		getma.org/?cm=msa&ty=f&p=KDEL1_HUMAN&rb=148&re=500&var=D427G	deleterious(0.02)				YES	KDELC1,missense_variant,p.Asp427Gly,ENST00000376004,NM_024089.2;KDELC1,non_coding_transcript_exon_variant,,ENST00000460338,;KDELC1,intron_variant,,ENST00000484943,;KDELC1,downstream_gene_variant,,ENST00000486540,;							MODERATE	1280/1509	D427G	KDEL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000365172		CCDS9504.1			1	
GALK1	0	LGGM	GRCh37	17	73759180	73759180	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	20	2	.	.	ENST00000588479.1:c.526A>G	p.Ser176Gly	p.S176G	ENST00000588479		176	Agc/Ggc	0	1		UPI000012B056	0	getma.org/pdb.php?prot=GALK1_HUMAN&from=126&to=194&var=S176G	ENST00000225614		ENSG00000108479	4118		22	1.41		HGNC	p.S176G		GALK1		SNV			1				ENST00000225614	protein_coding	getma.org/?cm=var&var=hg19,17,73759180,T,C&fts=all		hmmpanther:PTHR10457:SF6,hmmpanther:PTHR10457,TIGRFAM_domain:TIGR00131,Pfam_domain:PF00288,Gene3D:3.30.230.10,PIRSF_domain:PIRSF000530,Superfamily_domains:SSF54211,Prints_domain:PR00959		S/G		C	low	626/1445		getma.org/?cm=msa&ty=f&p=GALK1_HUMAN&rb=126&re=194&var=S176G	tolerated(0.2)	Q71UH7_HUMAN,C8CHJ6_HUMAN				GALK1,missense_variant,p.Ser176Gly,ENST00000588479,;GALK1,missense_variant,p.Ser176Gly,ENST00000225614,;GALK1,missense_variant,p.Ser206Gly,ENST00000437911,NM_000154.1;GALK1,upstream_gene_variant,,ENST00000592997,;GALK1,3_prime_UTR_variant,,ENST00000586244,;GALK1,3_prime_UTR_variant,,ENST00000587707,;GALK1,non_coding_transcript_exon_variant,,ENST00000592494,;GALK1,downstream_gene_variant,,ENST00000589030,;GALK1,upstream_gene_variant,,ENST00000586733,;GALK1,upstream_gene_variant,,ENST00000589643,;							MODERATE	526/1179	S176G	GALK1_HUMAN			Transcript		benign(0.001)	.	ENSP00000225614		CCDS11728.1			1	
ANKRD13B	0	LGGM	GRCh37	17	27937720	27937720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	5	2	.	.	ENST00000394859.3:c.840C>A	p.Asn280Lys	p.N280K	ENST00000394859	NM_152345.4	280	aaC/aaA	0	1	1	UPI0000246D82	0	NA	ENST00000394859		ENSG00000198720	26363		7	2.825		HGNC	p.N280K		ANKRD13B		SNV							ENST00000488766	protein_coding	getma.org/?cm=var&var=hg19,17,27937720,C,A&fts=all		hmmpanther:PTHR12447:SF3,hmmpanther:PTHR12447,Pfam_domain:PF11904		N/K		A	medium	994/3214		getma.org/?cm=msa&ty=f&p=AN13B_HUMAN&rb=163&re=491&var=N280K	deleterious(0)	K7ENT0_HUMAN			YES	ANKRD13B,missense_variant,p.Asn280Lys,ENST00000394859,NM_152345.4;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,;ANKRD13B,downstream_gene_variant,,ENST00000583728,;ANKRD13B,upstream_gene_variant,,ENST00000579719,;RP11-68I3.2,intron_variant,,ENST00000581474,;ANKRD13B,missense_variant,p.Asn280Lys,ENST00000488766,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000487527,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000493506,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000578943,;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,,ENST00000578811,;							MODERATE	840/1881	N280K	AN13B_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000378328		CCDS11251.1			1	
VWA5B1	0	LGGM	GRCh37	1	20669700	20669700	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	4	2	.	.	ENST00000375079.2:c.2440G>C	p.Val814Leu	p.V814L	ENST00000375079	NM_001039500.2	814	Gtc/Ctc	0	1	1	UPI000066D8B8	0	NA	ENST00000375079		ENSG00000158816	26538		6	0.805		HGNC	p.V814L		VWA5B1		SNV							ENST00000375083	protein_coding	getma.org/?cm=var&var=hg19,1,20669700,G,C&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109		V/L		C	low	2636/3859		getma.org/?cm=msa&ty=f&p=VW5B1_HUMAN&rb=582&re=1218&var=V814L	deleterious(0.04)	E9PQ62_HUMAN,E9PP07_HUMAN			YES	VWA5B1,missense_variant,p.Val814Leu,ENST00000289815,;VWA5B1,missense_variant,p.Val814Leu,ENST00000375079,NM_001039500.2;VWA5B1,missense_variant,p.Val814Leu,ENST00000375083,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,missense_variant,p.Val241Leu,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,downstream_gene_variant,,ENST00000473325,;							MODERATE	2440/3663	V814L	VW5B1_HUMAN			Transcript		benign(0.014)	.	ENSP00000364220					1	
DCPS	0	LGGM	GRCh37	11	126208221	126208221	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	35	3	.	.	ENST00000263579.4:c.563G>T	p.Arg188Leu	p.R188L	ENST00000263579	NM_014026.3	188	cGg/cTg	0	1	1	UPI000006F1CC	0	getma.org/pdb.php?prot=DCPS_HUMAN&from=174&to=294&var=R188L	ENST00000263579		ENSG00000110063	29812		38	3.24		HGNC	p.R188L		DCPS		SNV							ENST00000263579	protein_coding	getma.org/?cm=var&var=hg19,11,126208221,G,T&fts=all		Superfamily_domains:SSF54197,PIRSF_domain:PIRSF028973,Gene3D:3.30.428.10,Pfam_domain:PF11969,hmmpanther:PTHR12978,hmmpanther:PTHR12978:SF0		R/L		T	medium	892/1479		getma.org/?cm=msa&ty=f&p=DCPS_HUMAN&rb=174&re=294&var=R188L	deleterious(0)				YES	DCPS,missense_variant,p.Arg188Leu,ENST00000263579,NM_014026.3;DCPS,intron_variant,,ENST00000530860,;DCPS,non_coding_transcript_exon_variant,,ENST00000529149,;							MODERATE	563/1014	R188L	DCPS_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000263579		CCDS8473.1			1	
OR5T3	0	LGGM	GRCh37	11	56019683	56019683	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	19	3	.	.	ENST00000303059.3:c.8C>A	p.Ser3Tyr	p.S3Y	ENST00000303059	NM_001004747.1	3	tCc/tAc	0	1	1	UPI0000061E96	0	NA	ENST00000303059		ENSG00000172489	15297		22	0		HGNC	p.S3Y		OR5T3		SNV							ENST00000303059	protein_coding	getma.org/?cm=var&var=hg19,11,56019683,C,A&fts=all		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87		S/Y		A	neutral	8/1023		getma.org/?cm=msa&ty=f&p=OR5T3_HUMAN&rb=1&re=168&var=S3Y	deleterious_low_confidence(0.01)				YES	OR5T3,missense_variant,p.Ser3Tyr,ENST00000303059,NM_001004747.1;							MODERATE	8/1023	S3Y	OR5T3_HUMAN			Transcript		benign(0.029)	.	ENSP00000305403		CCDS31524.1			1	
DRP2	0	LGGM	GRCh37	X	100496755	100496755	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	16	3	.	.	ENST00000395209.3:c.658G>A	p.Val220Met	p.V220M	ENST00000395209	NM_001939.2	220	Gtg/Atg	0	1	1	UPI000013D388	0	NA	ENST00000395209		ENSG00000102385	3032		19	1.845		HGNC	p.V220M		DRP2		SNV							ENST00000395209	protein_coding	getma.org/?cm=var&var=hg19,X,100496755,G,A&fts=all		hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF038205,Superfamily_domains:SSF46966		V/M		A	low	1185/7277		getma.org/?cm=msa&ty=f&p=DRP2_HUMAN&rb=210&re=337&var=V220M	tolerated(0.11)				YES	DRP2,missense_variant,p.Val220Met,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.Val220Met,ENST00000402866,;DRP2,missense_variant,p.Val220Met,ENST00000538510,;DRP2,missense_variant,p.Val142Met,ENST00000541709,NM_001171184.1;DRP2,missense_variant,p.Val220Met,ENST00000372916,;							MODERATE	658/2874	V220M	DRP2_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000378635		CCDS14480.2			1	
KIAA1211	0	LGGM	GRCh37	4	57164472	57164472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	42	3	.	.	ENST00000504228.1:c.77C>A	p.Ala26Glu	p.A26E	ENST00000504228		26	gCa/gAa	0	1		UPI0000237309	0	NA	ENST00000264229		ENSG00000109265	29219		45	1.67		HGNC	p.A26E		KIAA1211		SNV							ENST00000264229	protein_coding	getma.org/?cm=var&var=hg19,4,57164472,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		A/E		A	low	468/4109		getma.org/?cm=msa&ty=f&p=K1211_HUMAN&rb=1&re=303&var=A26E	deleterious(0)					KIAA1211,missense_variant,p.Ala26Glu,ENST00000504228,;KIAA1211,missense_variant,p.Gln12Lys,ENST00000541073,;KIAA1211,missense_variant,p.Ala26Glu,ENST00000264229,NM_020722.1;KIAA1211,non_coding_transcript_exon_variant,,ENST00000503618,;							MODERATE	77/3702	A26E	K1211_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000264229		CCDS43230.1			1	
POLA1	0	LGGM	GRCh37	X	24767068	24767068	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	20	3	.	.	ENST00000379059.3:c.2905G>A	p.Ala969Thr	p.A969T	ENST00000379059	NM_016937.3	969	Gcc/Acc	0	1	1	UPI000014D383	0	getma.org/pdb.php?prot=DPOLA_HUMAN&from=783&to=1246&var=A969T	ENST00000379059		ENSG00000101868	9173		23	3.775		HGNC	p.A975T		POLA1		SNV							ENST00000379068	protein_coding	getma.org/?cm=var&var=hg19,X,24767068,G,A&fts=all		hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF18,Gene3D:2py5A02,TIGRFAM_domain:TIGR00592,Pfam_domain:PF00136,SMART_domains:SM00486,Superfamily_domains:SSF56672		A/T		A	high	2920/5440		getma.org/?cm=msa&ty=f&p=DPOLA_HUMAN&rb=783&re=1246&var=A969T	deleterious(0)				YES	POLA1,missense_variant,p.Ala975Thr,ENST00000379068,;POLA1,missense_variant,p.Ala969Thr,ENST00000379059,NM_016937.3;SCARNA23,downstream_gene_variant,,ENST00000516060,;POLA1,non_coding_transcript_exon_variant,,ENST00000480125,;							MODERATE	2905/4389	A969T	DPOLA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368349		CCDS14214.1			1	
IGSF10	0	LGGM	GRCh37	3	151163329	151163329	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	26	3	.	.	ENST00000282466.3:c.4440C>T	p.Pro1480=	p.P1480=	ENST00000282466	NM_178822.4	1480	ccC/ccT	0	1	1	UPI00001D629A	0		ENST00000282466		ENSG00000152580	26384		29			HGNC	p.P1480P		IGSF10		SNV							ENST00000282466	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29		P		A		4440/11067							YES	IGSF10,synonymous_variant,p.=,ENST00000282466,NM_178822.4,NM_001178145.1,NM_001178146.1;IGSF10,upstream_gene_variant,,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;							LOW	4440/7872		IGS10_HUMAN			Transcript			.	ENSP00000282466		CCDS3160.1			1	
TFAP2D	0	LGGM	GRCh37	6	50696722	50696722	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	44	3	.	.	ENST00000008391.3:c.752G>A	p.Gly251Asp	p.G251D	ENST00000008391	NM_172238.3	251	gGc/gAc	0	1	1	UPI00001A3A89	0	NA	ENST00000008391		ENSG00000008197	15581		47	3.305		HGNC	p.G251D		TFAP2D		SNV							ENST00000008391	protein_coding	getma.org/?cm=var&var=hg19,6,50696722,G,A&fts=all		Prints_domain:PR01748,Pfam_domain:PF03299,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5		G/D		A	medium	980/1711		getma.org/?cm=msa&ty=f&p=AP2D_HUMAN&rb=207&re=414&var=G251D	deleterious(0)				YES	TFAP2D,missense_variant,p.Gly251Asp,ENST00000008391,NM_172238.3;TFAP2D,non_coding_transcript_exon_variant,,ENST00000492804,;							MODERATE	752/1359	G251D	AP2D_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000008391		CCDS4933.1			1	
TMEM130	0	LGGM	GRCh37	7	98460721	98460721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	38	3	.	.	ENST00000416379.2:c.388A>G	p.Thr130Ala	p.T130A	ENST00000416379		130	Aca/Gca	0	1	1	UPI000006EF2E	0	NA	ENST00000416379		ENSG00000166448	25429		41	1.735		HGNC	p.T130A		TMEM130		SNV							ENST00000416379	protein_coding	getma.org/?cm=var&var=hg19,7,98460721,T,C&fts=all		hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF10		T/A		C	low	393/2881		getma.org/?cm=msa&ty=f&p=TM130_HUMAN&rb=5&re=433&var=T130A	deleterious(0.01)	C9JQV5_HUMAN			YES	TMEM130,missense_variant,p.Thr46Ala,ENST00000450876,;TMEM130,missense_variant,p.Thr130Ala,ENST00000339375,NM_001134450.1,NM_152913.2;TMEM130,missense_variant,p.Thr130Ala,ENST00000416379,;TMEM130,missense_variant,p.Thr111Ala,ENST00000546258,;TMEM130,missense_variant,p.Thr46Ala,ENST00000445790,;TMEM130,intron_variant,,ENST00000345589,NM_001134451.1;TMEM130,non_coding_transcript_exon_variant,,ENST00000486839,;TMEM130,intron_variant,,ENST00000461092,;							MODERATE	388/1308	T130A	TM130_HUMAN			Transcript		benign(0.133)	.	ENSP00000413163		CCDS47650.1			1	
ENTREP2	0	LGGM	GRCh37	15	29428625	29428625	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	15	3	.	.	ENST00000261275.4:c.871C>T	p.Pro291Ser	p.P291S	ENST00000261275	NM_015307.1	291	Cct/Tct	0	1	1	UPI0001641C10	0	NA	ENST00000261275		ENSG00000104059	29075		18	2.44		HGNC	p.P291S		FAM189A1		SNV							ENST00000261275	protein_coding	getma.org/?cm=var&var=hg19,15,29428625,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF6		P/S		A	medium	871/4705		getma.org/?cm=msa&ty=f&p=F1891_HUMAN&rb=200&re=399&var=P291S	deleterious(0)	H0YKM1_HUMAN			YES	FAM189A1,missense_variant,p.Pro291Ser,ENST00000261275,NM_015307.1;FAM189A1,non_coding_transcript_exon_variant,,ENST00000560021,;							MODERATE	871/1620	P291S	F1891_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000261275		CCDS45198.1			1	
ZNF215	0	LGGM	GRCh37	11	6977424	6977424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	34	3	.	.	ENST00000278319.5:c.1216C>A	p.Pro406Thr	p.P406T	ENST00000278319	NM_013250.2	406	Ccc/Acc	0	1	1	UPI000013DB6D	0	getma.org/pdb.php?prot=ZN215_HUMAN&from=393&to=418&var=P406T	ENST00000278319		ENSG00000149054	13007		37	2.765		HGNC	p.P406T		ZNF215		SNV							ENST00000278319	protein_coding	getma.org/?cm=var&var=hg19,11,6977424,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		P/T		A	medium	1804/3448		getma.org/?cm=msa&ty=f&p=ZN215_HUMAN&rb=373&re=438&var=P406T	deleterious(0.01)				YES	ZNF215,missense_variant,p.Pro406Thr,ENST00000278319,NM_013250.2;ZNF215,missense_variant,p.Pro406Thr,ENST00000414517,;ZNF215,intron_variant,,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000532533,;ZNF215,downstream_gene_variant,,ENST00000527171,;ZNF215,downstream_gene_variant,,ENST00000529755,;							MODERATE	1216/1554	P406T	ZN215_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000278319		CCDS7775.1			1	
PCDH19	0	LGGM	GRCh37	X	99551703	99551703	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	14	3	.	.	ENST00000373034.4:c.3019G>A	p.Asp1007Asn	p.D1007N	ENST00000373034	NM_001184880.1	1007	Gac/Aac	0	1	1	UPI00001D7BCD	0	NA	ENST00000373034		ENSG00000165194	14270		17	1.795		HGNC	p.D1007N	COSM3564155,COSM3564156	PCDH19		SNV			1			1,1	ENST00000373034	protein_coding	getma.org/?cm=var&var=hg19,X,99551703,C,T&fts=all				D/N		T	low	4695/9756		getma.org/?cm=msa&ty=f&p=PCD19_HUMAN&rb=916&re=1115&var=D1007N	tolerated(0.17)				YES	PCDH19,missense_variant,p.Asp1007Asn,ENST00000373034,NM_001184880.1;PCDH19,missense_variant,p.Asp960Asn,ENST00000255531,NM_020766.2,NM_001105243.1;PCDH19,missense_variant,p.Asp959Asn,ENST00000420881,;PCDH19,upstream_gene_variant,,ENST00000464981,;					1,1		MODERATE	3019/3447	D1007N	PCD19_HUMAN			Transcript		benign(0.206)	.	ENSP00000362125		CCDS55462.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H072896	H072896N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	20	7	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	27			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
GALNT14	0	LGGM	GRCh37	2	31154933	31154933	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	15	4	.	.	ENST00000324589.5:c.1073+1G>T		p.X358_splice	ENST00000324589	NM_001253826.1			0	1		UPI000000D723	0		ENST00000349752		ENSG00000158089	22946		19			HGNC	-	rs766920792	GALNT14		SNV							ENST00000349752	protein_coding							A		-/2733	1.57E-05							GALNT14,splice_donor_variant,,ENST00000349752,NM_024572.3;GALNT14,splice_donor_variant,,ENST00000406653,NM_001253827.1;GALNT14,splice_donor_variant,,ENST00000324589,NM_001253826.1;GALNT14,splice_donor_variant,,ENST00000356174,;GALNT14,splice_donor_variant,,ENST00000420311,;GALNT14,splice_donor_variant,,ENST00000430167,;GALNT14,splice_donor_variant,,ENST00000486564,;GALNT14,downstream_gene_variant,,ENST00000464038,;GALNT14,downstream_gene_variant,,ENST00000481023,;GALNT14,splice_donor_variant,,ENST00000455477,;							HIGH	1058/1659		GLT14_HUMAN			Transcript			.	ENSP00000288988	8.24E-06	CCDS1773.2			1	
LTN1	0	LGGM	GRCh37	21	30353463	30353463	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	36	4	.	.	ENST00000389194.2:c.926A>G	p.Tyr309Cys	p.Y309C	ENST00000389194	NM_015565.2	309	tAt/tGt	0	1		UPI00001A95E0	0	NA	ENST00000361371		ENSG00000198862	13082		40	2.215		HGNC	p.Y263C		LTN1		SNV							ENST00000361371	protein_coding	getma.org/?cm=var&var=hg19,21,30353463,T,C&fts=all		hmmpanther:PTHR12389,Superfamily_domains:SSF48371		Y/C		C	medium	868/7685		getma.org/?cm=msa&ty=f&p=LTN1_HUMAN&rb=201&re=400&var=Y263C	deleterious(0)	G1UI34_HUMAN				LTN1,missense_variant,p.Tyr309Cys,ENST00000389194,NM_015565.2;LTN1,missense_variant,p.Tyr263Cys,ENST00000361371,;LTN1,missense_variant,p.Tyr309Cys,ENST00000389195,;LTN1,missense_variant,p.Tyr192Cys,ENST00000483326,;							MODERATE	788/5301	Y263C	LTN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354977					1	
POLR2E	0	LGGM	GRCh37	19	1091836	1091836	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	27	4	.	.	ENST00000215587.7:c.303G>T	p.Arg101=	p.R101=	ENST00000215587		101	cgG/cgT	0	1		UPI000013C68D	0		ENST00000586746		ENSG00000099817	9192		31			HGNC	p.G43V		POLR2E		SNV							ENST00000589737	protein_coding			Superfamily_domains:0036684,Gene3D:1dzfA01,PIRSF_domain:PIRSF000747,hmmpanther:PTHR10535		R		A		342/799				E5KT65_HUMAN,B4DJ89_HUMAN				POLR2E,synonymous_variant,p.=,ENST00000215587,;POLR2E,synonymous_variant,p.=,ENST00000586746,NM_002695.3;POLR2E,non_coding_transcript_exon_variant,,ENST00000585838,;POLR2E,upstream_gene_variant,,ENST00000590060,;POLR2E,missense_variant,p.Gly43Val,ENST00000589737,;POLR2E,3_prime_UTR_variant,,ENST00000591767,;POLR2E,non_coding_transcript_exon_variant,,ENST00000586817,;POLR2E,non_coding_transcript_exon_variant,,ENST00000591709,;POLR2E,upstream_gene_variant,,ENST00000586215,;POLR2E,downstream_gene_variant,,ENST00000592597,;							LOW	303/633		RPAB1_HUMAN			Transcript			.	ENSP00000464739		CCDS12056.1			1	
KIF26A	0	LGGM	GRCh37	14	104642721	104642721	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	15	4	.	.	ENST00000423312.2:c.3596G>T	p.Trp1199Leu	p.W1199L	ENST00000423312	NM_015656.1	1199	tGg/tTg	0	1	1	UPI00006C145D	0	NA	ENST00000423312		ENSG00000066735	20226		19	0.55		HGNC	p.W1060L		KIF26A		SNV							ENST00000315264	protein_coding	getma.org/?cm=var&var=hg19,14,104642721,G,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407		W/L		T	neutral	3596/5649		getma.org/?cm=msa&ty=f&p=KI26A_HUMAN&rb=971&re=1539&var=W1199L	tolerated(0.38)	C9JFF0_HUMAN			YES	KIF26A,missense_variant,p.Trp1060Leu,ENST00000315264,;KIF26A,missense_variant,p.Trp1199Leu,ENST00000423312,NM_015656.1;							MODERATE	3596/5649	W1199L	KI26A_HUMAN			Transcript		benign(0)	.	ENSP00000388241		CCDS45171.1			1	
CXCL2	0	LGGM	GRCh37	4	74964568	74964568	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	89	4	.	.	ENST00000508487.2:c.172C>A	p.Gln58Lys	p.Q58K	ENST00000508487	NM_002089.3	58	Caa/Aaa	0	1	1	UPI0000047AA8	0	getma.org/pdb.php?prot=CXCL2_HUMAN&from=35&to=101&var=Q58K	ENST00000508487		ENSG00000081041	4603		93	1.36		HGNC	p.Q58K		CXCL2		SNV							ENST00000508487	protein_coding	getma.org/?cm=var&var=hg19,4,74964568,G,T&fts=all		Prints_domain:PR00436,Prints_domain:PR00436,Prints_domain:PR00437,Superfamily_domains:SSF54117,SMART_domains:SM00199,Gene3D:2.40.50.40,Pfam_domain:PF00048,PROSITE_patterns:PS00471,hmmpanther:PTHR10179:SF39,hmmpanther:PTHR10179		Q/K		T	low	345/1218		getma.org/?cm=msa&ty=f&p=CXCL2_HUMAN&rb=35&re=101&var=Q58K	deleterious(0.01)	Q6LD33_HUMAN			YES	CXCL2,missense_variant,p.Gln58Lys,ENST00000508487,NM_002089.3;CXCL2,non_coding_transcript_exon_variant,,ENST00000296031,;CXCL2,non_coding_transcript_exon_variant,,ENST00000510048,;							MODERATE	172/324	Q58K	CXCL2_HUMAN			Transcript		benign(0.173)	.	ENSP00000427279		CCDS34008.1			1	
TMEM117	0	LGGM	GRCh37	12	44238500	44238500	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	48	4	.	.	ENST00000266534.3:c.46A>G	p.Met16Val	p.M16V	ENST00000266534	NM_032256.1	16	Atg/Gtg	0	1	1	UPI0000037D18	0	NA	ENST00000266534		ENSG00000139173	25308	8.64E-05	52	0		HGNC	p.M16V	rs780822252	TMEM117		SNV							ENST00000266534	protein_coding	getma.org/?cm=var&var=hg19,12,44238500,A,G&fts=all		Pfam_domain:PF15113,hmmpanther:PTHR31226,Transmembrane_helices:TMhelix		M/V		G	neutral	173/2758		getma.org/?cm=msa&ty=f&p=TM117_HUMAN&rb=1&re=163&var=M16V	tolerated(0.42)	H0YI63_HUMAN			YES	TMEM117,missense_variant,p.Met16Val,ENST00000266534,NM_032256.1;TMEM117,missense_variant,p.Met16Val,ENST00000551577,NM_001286211.1;TMEM117,upstream_gene_variant,,ENST00000536799,NM_001286212.1;TMEM117,upstream_gene_variant,,ENST00000550495,;TMEM117,missense_variant,p.Met16Val,ENST00000546868,;TMEM117,non_coding_transcript_exon_variant,,ENST00000546387,;							MODERATE	46/1545	M16V	TM117_HUMAN			Transcript		benign(0.001)	.	ENSP00000266534	8.24E-06	CCDS8745.1			1	
ARID1A	0	LGGM	GRCh37	1	27106861	27106861	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	48	5	.	.	ENST00000324856.7:c.6472C>T	p.Arg2158Ter	p.R2158*	ENST00000324856	NM_006015.4	2158	Cga/Tga	0	1	1	UPI0000167B91	0	NA	ENST00000324856		ENSG00000117713	11110		53	0		HGNC	p.R1941X	COSM51432	ARID1A		SNV			1			1	ENST00000457599	protein_coding	getma.org/?cm=var&var=hg19,1,27106861,C,T&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF12031,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Superfamily_domains:SSF48371		R/*		T	NA	6843/8577		NA		Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,stop_gained,p.Arg2158Ter,ENST00000324856,NM_006015.4;ARID1A,stop_gained,p.Arg1941Ter,ENST00000457599,NM_139135.2;ARID1A,stop_gained,p.Arg1775Ter,ENST00000374152,;ARID1A,stop_gained,p.Arg1055Ter,ENST00000430799,;ARID1A,stop_gained,p.Arg486Ter,ENST00000540690,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;					1		HIGH	6472/6858	R2158*	ARI1A_HUMAN			Transcript			.	ENSP00000320485		CCDS285.1			1	
AC079354.1	0	LGGM	GRCh37	2	202967825	202967825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	48	5	.	.	ENST00000541917.1:c.1312G>T	p.Ala438Ser	p.A438S	ENST00000541917		438	Gcc/Tcc	0	1	1	UPI00020659C3	0	NA	ENST00000541917		ENSG00000182329			53	0.665		Clone_based_vega_gene	p.A438S		AC079354.1		SNV							ENST00000541917	protein_coding	getma.org/?cm=var&var=hg19,2,202967825,G,T&fts=all		hmmpanther:PTHR21937		A/S		T	neutral	1685/2889		getma.org/?cm=msa&ty=f&p=E7EP55_HUMAN&rb=1&re=545&var=A494S	tolerated(0.11)	F5H626_HUMAN			YES	AC079354.1,missense_variant,p.Ala494Ser,ENST00000295844,;AC079354.1,missense_variant,p.Ala438Ser,ENST00000541917,;AC079354.1,missense_variant,p.Ala58Ser,ENST00000498697,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000409515,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000459709,;							MODERATE	1312/2010	A494S				Transcript		benign(0.022)	.	ENSP00000437957					1	
CLIP4	0	LGGM	GRCh37	2	29354216	29354216	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	59	5	.	.	ENST00000320081.5:c.226C>T	p.Gln76Ter	p.Q76*	ENST00000320081	NM_024692.4	76	Cag/Tag	0	1	1	UPI000006F0E8	0	NA	ENST00000320081		ENSG00000115295	26108		64	0		HGNC	p.Q76X		CLIP4		SNV							ENST00000449202	protein_coding	getma.org/?cm=var&var=hg19,2,29354216,C,T&fts=all		hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF32		Q/*		T	NA	481/4293		NA		Q53QT5_HUMAN,Q4ZFY2_HUMAN,E7EW06_HUMAN,C9IYE4_HUMAN,A8K6D0_HUMAN			YES	CLIP4,stop_gained,p.Gln76Ter,ENST00000320081,NM_024692.4,NM_001287527.1;CLIP4,stop_gained,p.Gln76Ter,ENST00000404424,;CLIP4,stop_gained,p.Gln76Ter,ENST00000401605,NM_001287528.1;CLIP4,stop_gained,p.Gln76Ter,ENST00000449202,;CLIP4,5_prime_UTR_variant,,ENST00000401617,;CLIP4,5_prime_UTR_variant,,ENST00000438819,;CLIP4,non_coding_transcript_exon_variant,,ENST00000471165,;CLIP4,stop_gained,p.Gln76Ter,ENST00000456385,;CLIP4,stop_gained,p.Gln76Ter,ENST00000415891,;CLIP4,non_coding_transcript_exon_variant,,ENST00000491701,;							HIGH	226/2118	Q76*	CLIP4_HUMAN			Transcript			.	ENSP00000327009		CCDS1770.1			1	
ERC1	0	LGGM	GRCh37	12	1292496	1292496	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	65	5	.	.	ENST00000397203.2:c.2066G>A	p.Gly689Glu	p.G689E	ENST00000397203		689	gGa/gAa	0	1		UPI000007479C	0	NA	ENST00000360905		ENSG00000082805	17072		70	1.59		HGNC	p.G689E		ERC1		SNV			1				ENST00000397203	protein_coding	getma.org/?cm=var&var=hg19,12,1292496,G,A&fts=all		Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1		G/E		A	low	2247/5789		getma.org/?cm=msa&ty=f&p=RB6I2_HUMAN&rb=154&re=982&var=G689E	tolerated(0.3)	K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,missense_variant,p.Gly689Glu,ENST00000397203,;ERC1,missense_variant,p.Gly661Glu,ENST00000543086,NM_178039.2;ERC1,missense_variant,p.Gly689Glu,ENST00000589028,NM_178040.2;ERC1,missense_variant,p.Gly689Glu,ENST00000355446,;ERC1,missense_variant,p.Gly689Glu,ENST00000360905,;ERC1,missense_variant,p.Gly689Glu,ENST00000546231,;ERC1,non_coding_transcript_exon_variant,,ENST00000536573,;ERC1,missense_variant,p.Gly661Glu,ENST00000440394,;ERC1,missense_variant,p.Gly661Glu,ENST00000347735,;ERC1,missense_variant,p.Gly689Glu,ENST00000542302,;ERC1,missense_variant,p.Gly389Glu,ENST00000545948,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;							MODERATE	2066/3351	G689E	RB6I2_HUMAN			Transcript		benign(0.2)	.	ENSP00000354158		CCDS8508.1			1	
ASIC5	0	LGGM	GRCh37	4	156752999	156752999	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	70	5	.	.	ENST00000537611.2:c.1304C>A	p.Ala435Glu	p.A435E	ENST00000537611	NM_017419.2	435	gCg/gAg	0	1	1	UPI00000433EB	0	getma.org/pdb.php?prot=ASIC5_HUMAN&from=401&to=505&var=A435E	ENST00000537611		ENSG00000256394	17537		75	2.595		HGNC	p.A435E		ASIC5		SNV							ENST00000537611	protein_coding	getma.org/?cm=var&var=hg19,4,156752999,G,T&fts=all		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF126,Gene3D:1.10.287.770,Pfam_domain:PF00858,Prints_domain:PR01078		A/E		T	medium	1351/1692		getma.org/?cm=msa&ty=f&p=ASIC5_HUMAN&rb=401&re=505&var=A435E	tolerated(0.07)				YES	ASIC5,missense_variant,p.Ala435Glu,ENST00000537611,NM_017419.2;							MODERATE	1304/1518	A435E	ASIC5_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000442477		CCDS3793.1			1	
ASB9	0	LGGM	GRCh37	X	15287972	15287972	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	12	5	.	.	ENST00000380488.4:c.25G>A	p.Asp9Asn	p.D9N	ENST00000380488	NM_001031739.2	9	Gat/Aat	0	1	1	UPI00001260ED	0	NA	ENST00000380488		ENSG00000102048	17184		17	0		HGNC	p.D9N		ASB9		SNV							ENST00000380483	protein_coding	getma.org/?cm=var&var=hg19,X,15287972,C,T&fts=all		hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF0		D/N		T	neutral	299/1678		getma.org/?cm=msa&ty=f&p=ASB9_HUMAN&rb=1&re=52&var=D9N	tolerated(1)				YES	ASB9,missense_variant,p.Asp9Asn,ENST00000546332,NM_001168531.1;ASB9,missense_variant,p.Asp9Asn,ENST00000380488,NM_001031739.2;ASB9,missense_variant,p.Asp9Asn,ENST00000380485,NM_024087.2;ASB9,missense_variant,p.Asp9Asn,ENST00000380483,NM_001168530.1;ASB9,non_coding_transcript_exon_variant,,ENST00000473862,;ASB9,non_coding_transcript_exon_variant,,ENST00000470015,;							MODERATE	25/885	D9N	ASB9_HUMAN			Transcript		benign(0)	.	ENSP00000369855		CCDS35208.1			1	
GRM1	0	LGGM	GRCh37	6	146720510	146720510	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	37	6	.	.	ENST00000361719.2:c.2335G>A	p.Ala779Thr	p.A779T	ENST00000361719		779	Gcc/Acc	0	1		UPI000013DCFD	0	NA	ENST00000282753		ENSG00000152822	4593		43	0.895		HGNC	p.A779T	rs745330594,COSM3858900,COSM3858901	GRM1		SNV			1			0,1,1	ENST00000507907	protein_coding	getma.org/?cm=var&var=hg19,6,146720510,G,A&fts=all		PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00248		A/T		A	low	2570/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=602&re=838&var=A779T	deleterious(0.01)					GRM1,missense_variant,p.Ala779Thr,ENST00000392299,;GRM1,missense_variant,p.Ala779Thr,ENST00000361719,;GRM1,missense_variant,p.Ala779Thr,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Ala779Thr,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Ala779Thr,ENST00000355289,;GRM1,missense_variant,p.Ala779Thr,ENST00000507907,;	0.000116				0,1,1		MODERATE	2335/3585	A779T	GRM1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000282753	8.24E-06	CCDS5209.1			1	
CLCC1	0	LGGM	GRCh37	1	109479789	109479789	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	47	6	.	.	ENST00000369971.2:c.1293A>T	p.Arg431Ser	p.R431S	ENST00000369971	NM_001048210.2	431	agA/agT	0	1		UPI0000073C42	0	NA	ENST00000356970		ENSG00000121940	29675		53	1.935		HGNC	p.R310S		CLCC1		SNV							ENST00000302500	protein_coding	getma.org/?cm=var&var=hg19,1,109479789,T,A&fts=all		Pfam_domain:PF05934		R/S		A	medium	1401/4803		getma.org/?cm=msa&ty=f&p=CLCC1_HUMAN&rb=3&re=551&var=R431S	deleterious(0.05)					CLCC1,missense_variant,p.Arg431Ser,ENST00000369971,NM_001048210.2;CLCC1,missense_variant,p.Arg431Ser,ENST00000356970,;CLCC1,missense_variant,p.Arg381Ser,ENST00000415331,NM_015127.4;CLCC1,missense_variant,p.Arg310Ser,ENST00000369969,NM_001278202.1;CLCC1,missense_variant,p.Arg246Ser,ENST00000369968,NM_001278203.1;CLCC1,missense_variant,p.Arg381Ser,ENST00000369970,;CLCC1,missense_variant,p.Arg310Ser,ENST00000302500,;CLCC1,missense_variant,p.Arg246Ser,ENST00000348264,;CLCC1,intron_variant,,ENST00000369976,;AKNAD1,intron_variant,,ENST00000357393,;GPSM2,downstream_gene_variant,,ENST00000406462,;CLCC1,intron_variant,,ENST00000482889,;CLCC1,intron_variant,,ENST00000473062,;							MODERATE	1293/1656	R431S	CLCC1_HUMAN			Transcript		possibly_damaging(0.745)	.	ENSP00000349456		CCDS41362.1			1	
ARHGAP5	0	LGGM	GRCh37	14	32561107	32561107	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	67	6	.	.	ENST00000345122.3:c.1232A>C	p.Glu411Ala	p.E411A	ENST00000345122	NM_001030055.1	411	gAa/gCa	0	1	1	UPI000057B85C	0	NA	ENST00000345122		ENSG00000100852	675		73	1.905		HGNC	p.E411A		ARHGAP5		SNV							ENST00000556611	protein_coding	getma.org/?cm=var&var=hg19,14,32561107,A,C&fts=all		PROSITE_profiles:PS51676,hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4,SMART_domains:SM00441		E/A		C	medium	1547/9604		getma.org/?cm=msa&ty=f&p=RHG05_HUMAN&rb=365&re=420&var=E411A	deleterious(0)	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN			YES	ARHGAP5,missense_variant,p.Glu411Ala,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Glu411Ala,ENST00000432921,NM_001173.2;ARHGAP5,missense_variant,p.Glu411Ala,ENST00000539826,;ARHGAP5,missense_variant,p.Glu411Ala,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,;							MODERATE	1232/4509	E411A	RHG05_HUMAN			Transcript		possibly_damaging(0.562)	.	ENSP00000371897		CCDS32062.1			1	
OR2B11	0	LGGM	GRCh37	1	247614557	247614557	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	43	6	.	.	ENST00000318749.6:c.728G>A	p.Gly243Glu	p.G243E	ENST00000318749	NM_001004492.1	243	gGg/gAg	0	1	1	UPI0000418F50	0	NA	ENST00000318749		ENSG00000177535	31249		49	1.8		HGNC	p.G243E		OR2B11		SNV							ENST00000318749	protein_coding	getma.org/?cm=var&var=hg19,1,247614557,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,Superfamily_domains:SSF81321		G/E		T	low	752/1054		getma.org/?cm=msa&ty=f&p=OR2BB_HUMAN&rb=143&re=287&var=G243E	deleterious(0.01)				YES	OR2B11,missense_variant,p.Gly243Glu,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000532083,;							MODERATE	728/954	G243E	OR2BB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325682		CCDS31090.1			1	
BATF	0	LGGM	GRCh37	14	75989065	75989065	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	25	6	.	.	ENST00000286639.6:c.40C>T	p.Arg14Cys	p.R14C	ENST00000286639	NM_006399.3	14	Cgc/Tgc	0	1	1	UPI0000073D64	0	NA	ENST00000286639		ENSG00000156127	958		31	0		HGNC	p.R14C	rs758211791	BATF		SNV							ENST00000286639	protein_coding	getma.org/?cm=var&var=hg19,14,75989065,C,T&fts=all		hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF14,Low_complexity_(Seg):seg		R/C		T	neutral	298/980		getma.org/?cm=msa&ty=f&p=BATF_HUMAN&rb=1&re=53&var=R14C	deleterious(0.02)				YES	BATF,missense_variant,p.Arg14Cys,ENST00000286639,NM_006399.3;BATF,missense_variant,p.Arg14Cys,ENST00000555504,;BATF,intron_variant,,ENST00000555795,;	0.000116						MODERATE	40/378	R14C	BATF_HUMAN			Transcript		unknown(0)	.	ENSP00000286639	8.24E-06	CCDS9843.1			1	
NEFH	0	LGGM	GRCh37	22	29885234	29885234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	87	6	.	.	ENST00000310624.6:c.1605G>T	p.Lys535Asn	p.K535N	ENST00000310624	NM_021076.3	535	aaG/aaT	0	1	1	UPI00001AEF71	0	NA	ENST00000310624		ENSG00000100285	7737		93	1.04		HGNC	p.K535N		NEFH		SNV			1				ENST00000310624	protein_coding	getma.org/?cm=var&var=hg19,22,29885234,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214		K/N		T	low	1638/3783		getma.org/?cm=msa&ty=f&p=NFH_HUMAN&rb=413&re=535&var=K535N	deleterious(0)				YES	NEFH,missense_variant,p.Lys535Asn,ENST00000310624,NM_021076.3;							MODERATE	1605/3063	K535N	NFH_HUMAN			Transcript		unknown(0)	.	ENSP00000311997		CCDS13858.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1900950	1900950	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	20	6	.	.	ENST00000349830.3:c.3477G>A	p.Val1159=	p.V1159=	ENST00000349830	NM_014629.2	1159	gtG/gtA	0	1		UPI0000D89824	0		ENST00000398564		ENSG00000104728	14103		26			HGNC	p.V803V		ARHGEF10		SNV			1				ENST00000522435	protein_coding			hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14		V		A		3552/5480								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,non_coding_transcript_exon_variant,,ENST00000521927,;ARHGEF10,downstream_gene_variant,,ENST00000523596,;							LOW	3552/4110		ARHGA_HUMAN			Transcript			.	ENSP00000381571					1	
GPRC6A	0	LGGM	GRCh37	6	117113911	117113911	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	26	6	.	.	ENST00000310357.3:c.2175T>G	p.Phe725Leu	p.F725L	ENST00000310357	NM_148963.2	725	ttT/ttG	0	1	1	UPI000013EFF9	0	NA	ENST00000310357		ENSG00000173612	18510		32	-0.415		HGNC	p.F550L		GPRC6A		SNV							ENST00000530250	protein_coding	getma.org/?cm=var&var=hg19,6,117113911,A,C&fts=all		Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Transmembrane_helices:TMhelix		F/L		C	neutral	2197/2860		getma.org/?cm=msa&ty=f&p=GPC6A_HUMAN&rb=603&re=837&var=F725L	tolerated(0.82)				YES	GPRC6A,missense_variant,p.Phe725Leu,ENST00000310357,NM_148963.2;GPRC6A,missense_variant,p.Phe654Leu,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Phe550Leu,ENST00000530250,NM_001286354.1;							MODERATE	2175/2781	F725L	GPC6A_HUMAN			Transcript		benign(0.009)	.	ENSP00000309493		CCDS5112.1			1	
EPG5	0	LGGM	GRCh37	18	43502305	43502305	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	40	7	.	.	ENST00000282041.5:c.3098+2T>C		p.X1033_splice	ENST00000282041	NM_020964.2			0	1	1	UPI00004F6F8A	0		ENST00000282041		ENSG00000152223	29331		47			HGNC	-		EPG5		SNV			1				ENST00000282041	protein_coding							G		-/12633				Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,splice_donor_variant,,ENST00000282041,NM_020964.2;EPG5,upstream_gene_variant,,ENST00000585906,;EPG5,splice_donor_variant,,ENST00000587974,;							HIGH	3098/7740		EPG5_HUMAN			Transcript			.	ENSP00000282041		CCDS11926.2			1	
PCSK5	0	LGGM	GRCh37	9	78808170	78808170	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	82	7	.	.	ENST00000545128.1:c.2626+3508G>T		*876*	ENST00000545128	NM_001190482.1			0	1	1	UPI0001DAD817	0		ENST00000545128		ENSG00000099139	8747		89			HGNC	p.A882S		PCSK5		SNV							ENST00000376752	protein_coding							T		-/9538				I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Ala882Ser,ENST00000376752,NM_006200.3;PCSK5,intron_variant,,ENST00000545128,NM_001190482.1;PCSK5,intron_variant,,ENST00000424854,;PCSK5,intron_variant,,ENST00000455778,;							MODIFIER	-/5583		PCSK5_HUMAN			Transcript			.	ENSP00000446280		CCDS55320.1			1	
ZNF880	0	LGGM	GRCh37	19	52876443	52876443	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	129	8	.	.	ENST00000422689.2:c.92T>C	p.Leu31Ser	p.L31S	ENST00000422689	NM_001145434.1	31	tTa/tCa	0	1	1	UPI00001D818D	0	getma.org/pdb.php?prot=ZN880_HUMAN&from=7&to=47&var=L31S	ENST00000422689		ENSG00000221923	37249		137	4.59		HGNC	p.L31S		ZNF880		SNV							ENST00000422689	protein_coding	getma.org/?cm=var&var=hg19,19,52876443,T,C&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108,SMART_domains:SM00349		L/S		C	high	107/2230		getma.org/?cm=msa&ty=f&p=ZN880_HUMAN&rb=7&re=47&var=L31S	deleterious(0)				YES	ZNF880,missense_variant,p.Leu31Ser,ENST00000422689,NM_001145434.1;ZNF880,missense_variant,p.Leu31Ser,ENST00000600321,;ZNF880,missense_variant,p.Leu31Ser,ENST00000424032,;ZNF880,missense_variant,p.Leu31Ser,ENST00000344085,;ZNF880,missense_variant,p.Leu31Ser,ENST00000597976,;ZNF880,downstream_gene_variant,,ENST00000595099,;							MODERATE	92/1734	L31S	ZN880_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000406318		CCDS46164.1			1	
ABI3BP	0	LGGM	GRCh37	3	100470503	100470503	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	82	8	.	.	ENST00000284322.5:c.3005T>C	p.Ile1002Thr	p.I1002T	ENST00000284322	NM_015429.3	1002	aTa/aCa	0	1	1	UPI000011C136	0	NA	ENST00000284322		ENSG00000154175	17265		90	2.33		HGNC	p.I956T		ABI3BP		SNV							ENST00000383691	protein_coding	getma.org/?cm=var&var=hg19,3,100470503,A,G&fts=all		hmmpanther:PTHR23197		I/T		G	medium	3115/4498		getma.org/?cm=msa&ty=f&p=TARSH_HUMAN&rb=924&re=1075&var=I1002T	deleterious(0)				YES	ABI3BP,missense_variant,p.Ile1704Thr,ENST00000471714,;ABI3BP,missense_variant,p.Ile1002Thr,ENST00000284322,NM_015429.3;ABI3BP,missense_variant,p.Ile956Thr,ENST00000383691,;ABI3BP,missense_variant,p.Ile1058Thr,ENST00000495591,;TFG,downstream_gene_variant,,ENST00000240851,NM_001195478.1,NM_006070.5,NM_001195479.1;TFG,downstream_gene_variant,,ENST00000476228,;TFG,downstream_gene_variant,,ENST00000418917,NM_001007565.2;TFG,downstream_gene_variant,,ENST00000490574,;TFG,downstream_gene_variant,,ENST00000481203,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,downstream_gene_variant,,ENST00000497021,;							MODERATE	3005/3228	I1002T	TARSH_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000284322		CCDS46880.1			1	
RBL2	0	LGGM	GRCh37	16	53504717	53504717	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	58	9	.	.	ENST00000262133.6:c.2586T>C	p.Asp862=	p.D862=	ENST00000262133	NM_005611.3	862	gaT/gaC	0	1	1	UPI000013D264	0		ENST00000262133		ENSG00000103479	9894		67			HGNC	p.D862D		RBL2		SNV							ENST00000262133	protein_coding			Gene3D:1.10.472.10,Pfam_domain:PF01857,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,SMART_domains:SM00385,Superfamily_domains:SSF47954		D		C		2723/4906				J3KSF7_HUMAN			YES	RBL2,synonymous_variant,p.=,ENST00000262133,NM_005611.3;RBL2,intron_variant,,ENST00000544545,;RBL2,downstream_gene_variant,,ENST00000544405,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,downstream_gene_variant,,ENST00000562850,;RBL2,downstream_gene_variant,,ENST00000562837,;							LOW	2586/3420		RBL2_HUMAN			Transcript			.	ENSP00000262133		CCDS10748.1			1	
SLMAP	0	LGGM	GRCh37	3	57835499	57835499	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	79	9	.	.	ENST00000295951.3:c.475A>C	p.Ser159Arg	p.S159R	ENST00000295951		159	Agt/Cgt	0	1		UPI00005796CD	0	NA	ENST00000428312		ENSG00000163681	16643		88	1.495		HGNC	p.S159R		SLMAP		SNV			1				ENST00000383718	protein_coding	getma.org/?cm=var&var=hg19,3,57835499,A,C&fts=all		hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF8		S/R		C	low	569/4132		getma.org/?cm=msa&ty=f&p=SLMAP_HUMAN&rb=107&re=306&var=S159R	deleterious(0.02)	C9JA20_HUMAN,B7Z964_HUMAN				SLMAP,missense_variant,p.Ser159Arg,ENST00000383718,;SLMAP,missense_variant,p.Ser159Arg,ENST00000295951,;SLMAP,missense_variant,p.Ser159Arg,ENST00000295952,NM_007159.2;SLMAP,missense_variant,p.Ser159Arg,ENST00000428312,;SLMAP,missense_variant,p.Ser159Arg,ENST00000449503,;SLMAP,5_prime_UTR_variant,,ENST00000416870,;SLMAP,non_coding_transcript_exon_variant,,ENST00000467901,;							MODERATE	475/2487	S159R	SLMAP_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000398661					1	
ZNF236	0	LGGM	GRCh37	18	74587468	74587468	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072896	H072896N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	62	9	.	.	ENST00000253159.8:c.682A>T	p.Ser228Cys	p.S228C	ENST00000253159	NM_007345.3	228	Agt/Tgt	0	1	1	UPI0000F6DCCB	0	getma.org/pdb.php?prot=ZN236_HUMAN&from=211&to=236&var=S228C	ENST00000253159		ENSG00000130856	13028		71	2.03		HGNC	p.S230C		ZNF236		SNV							ENST00000320610	protein_coding	getma.org/?cm=var&var=hg19,18,74587468,A,T&fts=all		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,Superfamily_domains:SSF57667		S/C		T	medium	880/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=191&re=256&var=S228C	deleterious(0.01)				YES	ZNF236,missense_variant,p.Ser228Cys,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Ser230Cys,ENST00000320610,;ZNF236,missense_variant,p.Ser228Cys,ENST00000579322,;ZNF236,non_coding_transcript_exon_variant,,ENST00000583095,;ZNF236,missense_variant,p.Ser228Cys,ENST00000543926,;ZNF236,upstream_gene_variant,,ENST00000583488,;							MODERATE	682/5538	S228C	ZN236_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000253159		CCDS42447.1			1	
PPP1R12A	0	LGGM	GRCh37	12	80266595	80266595	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	102	9	.	.	ENST00000450142.2:c.361A>G	p.Ile121Val	p.I121V	ENST00000450142	NM_002480.2	121	Att/Gtt	0	1		UPI0000073E69	0	getma.org/pdb.php?prot=MYPT1_HUMAN&from=105&to=137&var=I121V	ENST00000261207		ENSG00000058272	7618		111	0.235		HGNC	p.I121V		PPP1R12A		SNV							ENST00000261207	protein_coding	getma.org/?cm=var&var=hg19,12,80266595,T,C&fts=all		Prints_domain:PR01415,Superfamily_domains:SSF48403,PIRSF_domain:PIRSF038141,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		I/V		C	neutral	484/5582		getma.org/?cm=msa&ty=f&p=MYPT1_HUMAN&rb=105&re=137&var=I121V	deleterious(0)	F8VW28_HUMAN				PPP1R12A,missense_variant,p.Ile121Val,ENST00000450142,NM_002480.2;PPP1R12A,missense_variant,p.Ile121Val,ENST00000261207,NM_001143885.1;PPP1R12A,missense_variant,p.Ile121Val,ENST00000437004,NM_001244990.1;PPP1R12A,missense_variant,p.Ile34Val,ENST00000546369,NM_001143886.1;PPP1R12A,missense_variant,p.Ile121Val,ENST00000550107,NM_001244992.1;PPP1R12A,missense_variant,p.Ile121Val,ENST00000547330,;PPP1R12A,missense_variant,p.Ile49Val,ENST00000550510,;PPP1R12A,5_prime_UTR_variant,,ENST00000548318,;							MODERATE	361/3093	I121V	MYPT1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000261207		CCDS44947.1			1	
RUSC2	0	LGGM	GRCh37	9	35560073	35560073	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	135	9	.	.	ENST00000455600.1:c.3436C>G	p.His1146Asp	p.H1146D	ENST00000455600	NM_001135999.1	1146	Cat/Gat	0	1		UPI00001C1EB0	0	NA	ENST00000361226		ENSG00000198853	23625		144	1.5		HGNC	p.H1146D		RUSC2		SNV							ENST00000455600	protein_coding	getma.org/?cm=var&var=hg19,9,35560073,C,G&fts=all		Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14,SMART_domains:SM00593		H/D		G	low	3574/5199		getma.org/?cm=msa&ty=f&p=RUSC2_HUMAN&rb=1039&re=1174&var=H1146D	deleterious(0.01)					RUSC2,missense_variant,p.His1146Asp,ENST00000455600,NM_001135999.1;RUSC2,missense_variant,p.His1146Asp,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;							MODERATE	3436/4551	H1146D	RUSC2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000355177		CCDS35008.1			1	
KANSL1L	0	LGGM	GRCh37	2	210896272	210896272	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	66	10	.	.	ENST00000281772.9:c.2030-2A>C		p.X677_splice	ENST00000281772	NM_152519.2			0	1	1	UPI00002094A9	0		ENST00000281772		ENSG00000144445	26310		76			HGNC	-		KANSL1L		SNV							ENST00000281772	protein_coding							G		-/4754							YES	KANSL1L,splice_acceptor_variant,,ENST00000281772,NM_152519.2;KANSL1L,intron_variant,,ENST00000418791,;AC007038.7,intron_variant,,ENST00000452057,;RP11-260M2.1,downstream_gene_variant,,ENST00000608095,;							HIGH	2030/2964		KAL1L_HUMAN			Transcript			.	ENSP00000281772		CCDS33370.1			1	
DST	0	LGGM	GRCh37	6	56469067	56469067	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H072896	H072896N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	72	10	.	.	ENST00000244364.6:c.3673-4048A>G		*1225*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		82			HGNC	p.Q2916Q		DST		SNV			1				ENST00000439203	protein_coding							C		-/16742				Q86T18_HUMAN			YES	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.=,ENST00000439203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
FAT3	0	LGGM	GRCh37	11	92564876	92564876	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072896	H072896N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	55	10	.	.	ENST00000298047.6:c.9570G>A	p.Glu3190=	p.E3190=	ENST00000298047		3190	gaG/gaA	0	1	1	UPI000050B6C6	0		ENST00000298047		ENSG00000165323	23112		65			HGNC	p.E3040E	rs376868441	FAT3		SNV	A:0.0002			0.000112			ENST00000525166	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		E	A:0	A		9587/19126				E9PQ73_HUMAN			YES	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;							LOW	9570/13770		FAT3_HUMAN			Transcript			.	ENSP00000298047	8.25E-06				1	
PCM1	0	LGGM	GRCh37	8	17827141	17827141	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	116	12	.	.	ENST00000325083.8:c.3468C>G	p.Ile1156Met	p.I1156M	ENST00000325083	NM_006197.3	1156	atC/atG	0	1	1	UPI0000210A25	0	NA	ENST00000325083		ENSG00000078674	8727	8.69E-05	128	0.345		HGNC	p.I1157M	rs755973262	PCM1		SNV			1				ENST00000524226	protein_coding	getma.org/?cm=var&var=hg19,8,17827141,C,G&fts=all		hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12		I/M		G	neutral	3907/6820		getma.org/?cm=msa&ty=f&p=PCM1_HUMAN&rb=975&re=1161&var=I1156M	tolerated(0.25)	E5RGQ4_HUMAN			YES	PCM1,missense_variant,p.Ile1156Met,ENST00000325083,NM_006197.3;PCM1,missense_variant,p.Ile1156Met,ENST00000519253,;PCM1,missense_variant,p.Ile1157Met,ENST00000524226,;PCM1,upstream_gene_variant,,ENST00000327578,;PCM1,upstream_gene_variant,,ENST00000522275,;PCM1,downstream_gene_variant,,ENST00000518762,;PCM1,non_coding_transcript_exon_variant,,ENST00000523540,;PCM1,downstream_gene_variant,,ENST00000524356,;PCM1,upstream_gene_variant,,ENST00000522998,;							MODERATE	3468/6075	I1156M	PCM1_HUMAN			Transcript		benign(0.253)	.	ENSP00000327077	8.28E-06	CCDS47812.1			1	
G3BP1	0	LGGM	GRCh37	5	151175075	151175075	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	154	15	.	.	ENST00000394123.3:c.478C>T	p.Gln160Ter	p.Q160*	ENST00000394123		160	Cag/Tag	0	1		UPI0000030309	0	NA	ENST00000356245		ENSG00000145907	30292		169	0		HGNC	p.Q160X		G3BP1		SNV							ENST00000356245	protein_coding	getma.org/?cm=var&var=hg19,5,151175075,C,T&fts=all		hmmpanther:PTHR10693,hmmpanther:PTHR10693:SF21,Low_complexity_(Seg):seg		Q/*		T	NA	621/2803		NA		Q5U0Q1_HUMAN,F5H4D6_HUMAN,E5RIF8_HUMAN,E5RI46_HUMAN,E5RH42_HUMAN				G3BP1,stop_gained,p.Gln160Ter,ENST00000394123,;G3BP1,stop_gained,p.Gln160Ter,ENST00000356245,NM_005754.2,NM_198395.1;G3BP1,5_prime_UTR_variant,,ENST00000543466,;G3BP1,downstream_gene_variant,,ENST00000520006,;G3BP1,downstream_gene_variant,,ENST00000507878,;G3BP1,downstream_gene_variant,,ENST00000523519,;G3BP1,downstream_gene_variant,,ENST00000520578,;G3BP1,3_prime_UTR_variant,,ENST00000520177,;G3BP1,3_prime_UTR_variant,,ENST00000522761,;G3BP1,3_prime_UTR_variant,,ENST00000522666,;G3BP1,3_prime_UTR_variant,,ENST00000522367,;G3BP1,3_prime_UTR_variant,,ENST00000517947,;G3BP1,downstream_gene_variant,,ENST00000519832,;							HIGH	478/1401	Q160*	G3BP1_HUMAN			Transcript			.	ENSP00000348578		CCDS4319.1			1	
EML5	0	LGGM	GRCh37	14	89087552	89087552	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072896	H072896N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072896N.bam, H072896T.bam	Illumina HiSeq	119	17	.	.	ENST00000554922.1:c.5107G>A	p.Gly1703Arg	p.G1703R	ENST00000554922	NM_183387.2	1703	Ggg/Agg	0	1		UPI000183882B	0	NA	ENST00000380664		ENSG00000165521	18197		136	1.625		HGNC	p.G144R		EML5		SNV							ENST00000555823	protein_coding	getma.org/?cm=var&var=hg19,14,89087552,C,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50998		G/R		T	low	5083/5910		getma.org/?cm=msa&ty=f&p=EMAL5_HUMAN&rb=1688&re=1722&var=G1695R	deleterious(0)					EML5,missense_variant,p.Gly1703Arg,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Gly1657Arg,ENST00000352093,;EML5,missense_variant,p.Gly1695Arg,ENST00000380664,;EML5,missense_variant,p.Gly144Arg,ENST00000555823,;EML5,downstream_gene_variant,,ENST00000553320,;EML5,3_prime_UTR_variant,,ENST00000553526,;EML5,downstream_gene_variant,,ENST00000553281,;EML5,upstream_gene_variant,,ENST00000553973,;							MODERATE	5083/5910	G1695R	EMAL5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370039					1	
MUC4	0	LGGM	GRCh37	3	195506370	195506370	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	1	2	.	.	ENST00000463781.3:c.12081A>C	p.Thr4027=	p.T4027=	ENST00000463781	NM_018406.6	4027	acA/acC	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514	0.00327	3			HGNC	p.T4027T	rs201961213,rs374883971,COSM3945319,COSM1042841	MUC4	0.0121	SNV				0.00492		0,0,1,1	ENST00000463781	protein_coding		G:0.0045,G:0.0045	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T		G		12541/17110	0.0086			O75456_HUMAN,E9PDY6_HUMAN	G:0,G:0	G:0,G:0	YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;	0.00735	G:0.0042			0,0,1,1		LOW	12081/16239			0.006	G:0.001,G:0.001	Transcript			common_variant	ENSP00000417498	0.0141	CCDS54700.1	0.00704	G:0.0143,G:0.0143	1	
AZI1	0	LGGM	GRCh37	17	79174137	79174137	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	0	2	.	.	ENST00000450824.2:c.898A>G	p.Lys300Glu	p.K300E	ENST00000450824		300	Aag/Gag	0	1		UPI00001C1FC8	0	NA	ENST00000269392		ENSG00000141577	29511		2	2.005		HGNC	p.K300E		AZI1		SNV							ENST00000269392	protein_coding	getma.org/?cm=var&var=hg19,17,79174137,T,C&fts=all		hmmpanther:PTHR31540,hmmpanther:PTHR31540:SF1		K/E		C	medium	1146/3673		getma.org/?cm=msa&ty=f&p=AZI1_HUMAN&rb=1&re=758&var=K300E	deleterious(0)					AZI1,missense_variant,p.Lys300Glu,ENST00000269392,NM_014984.2;AZI1,missense_variant,p.Lys300Glu,ENST00000450824,;AZI1,missense_variant,p.Lys300Glu,ENST00000374782,NM_001009811.2;AZI1,missense_variant,p.Lys300Glu,ENST00000575907,;AZI1,upstream_gene_variant,,ENST00000573053,;RP11-455O6.2,downstream_gene_variant,,ENST00000571085,;AZI1,non_coding_transcript_exon_variant,,ENST00000570482,;							MODERATE	898/3252	K300E	AZI1_HUMAN			Transcript		benign(0.183)	.	ENSP00000269392					1	
SPATA20	0	LGGM	GRCh37	17	48628217	48628217	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	39	3	.	.	ENST00000006658.6:c.1322C>A	p.Ser441Ter	p.S441*	ENST00000006658	NM_022827.3	441	tCa/tAa	0	1		UPI000013F302	0	NA	ENST00000356488		ENSG00000006282	26125		42	0		HGNC	p.S441X		SPATA20		SNV							ENST00000006658	protein_coding	getma.org/?cm=var&var=hg19,17,48628217,C,A&fts=all		hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145,PIRSF_domain:PIRSF006402,Superfamily_domains:SSF48208		S/*		A	NA	1357/2634		NA						SPATA20,stop_gained,p.Ser441Ter,ENST00000006658,NM_022827.3;SPATA20,stop_gained,p.Ser381Ter,ENST00000393244,NM_001258373.1;SPATA20,stop_gained,p.Ser425Ter,ENST00000356488,NM_001258372.1;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,stop_gained,p.Ser89Ter,ENST00000508528,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,3_prime_UTR_variant,,ENST00000505559,;SPATA20,3_prime_UTR_variant,,ENST00000511347,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,non_coding_transcript_exon_variant,,ENST00000504265,;SPATA20,non_coding_transcript_exon_variant,,ENST00000515619,;SPATA20,non_coding_transcript_exon_variant,,ENST00000504271,;SPATA20,non_coding_transcript_exon_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000512181,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000502911,;SPATA20,downstream_gene_variant,,ENST00000505456,;SPATA20,downstream_gene_variant,,ENST00000512416,;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,downstream_gene_variant,,ENST00000515526,;SPATA20,downstream_gene_variant,,ENST00000510917,;							HIGH	1274/2361	S425*	SPT20_HUMAN			Transcript			.	ENSP00000348878		CCDS58563.1			1	
MMP11	0	LGGM	GRCh37	22	24123083	24123083	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	25	3	.	.	ENST00000215743.3:c.654C>T	p.Gly218=	p.G218=	ENST00000215743	NM_005940.3	218	ggC/ggT	0	1	1	UPI00001AE5D9	0		ENST00000215743		ENSG00000099953	7157		28			HGNC	p.G202G		MMP11		SNV							ENST00000437086	protein_coding			Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF20,SMART_domains:SM00235,Superfamily_domains:SSF55486		G		T		706/2291				F8WDI7_HUMAN			YES	MMP11,synonymous_variant,p.=,ENST00000215743,NM_005940.3;AP000349.1,downstream_gene_variant,,ENST00000598975,;MMP11,non_coding_transcript_exon_variant,,ENST00000477567,;MMP11,non_coding_transcript_exon_variant,,ENST00000460352,;MMP11,downstream_gene_variant,,ENST00000489582,;MMP11,upstream_gene_variant,,ENST00000488363,;MMP11,upstream_gene_variant,,ENST00000480185,;MMP11,synonymous_variant,p.=,ENST00000437086,;MMP11,synonymous_variant,p.=,ENST00000434318,;MMP11,non_coding_transcript_exon_variant,,ENST00000465385,;MMP11,upstream_gene_variant,,ENST00000492464,;MMP11,downstream_gene_variant,,ENST00000465730,;MMP11,upstream_gene_variant,,ENST00000493132,;MMP11,downstream_gene_variant,,ENST00000428253,;							LOW	654/1467		MMP11_HUMAN			Transcript			.	ENSP00000215743		CCDS13816.1			1	
TRIM16	0	LGGM	GRCh37	17	15534970	15534970	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	29	3	.	.	ENST00000455584.2:c.1074C>A	p.Ser358=	p.S358=	ENST00000455584		358	tcC/tcA	0	1		UPI000013C874	0		ENST00000336708		ENSG00000221926	17241		32			HGNC	p.P87Q		TRIM16		SNV							ENST00000580110	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF86		S		T		1631/2900				K7ENN8_HUMAN,J3QKY5_HUMAN				TRIM16,missense_variant,p.Pro87Gln,ENST00000580110,;RP11-385D13.1,synonymous_variant,p.=,ENST00000455584,;TRIM16,synonymous_variant,p.=,ENST00000578237,;TRIM16,synonymous_variant,p.=,ENST00000416464,;TRIM16,synonymous_variant,p.=,ENST00000336708,NM_006470.3;TRIM16,synonymous_variant,p.=,ENST00000577886,;TRIM16,synonymous_variant,p.=,ENST00000577446,;TRIM16,intron_variant,,ENST00000579219,;TRIM16,downstream_gene_variant,,ENST00000577372,;TRIM16,downstream_gene_variant,,ENST00000578744,;TRIM16,downstream_gene_variant,,ENST00000581200,;TRIM16,downstream_gene_variant,,ENST00000581224,;TRIM16,downstream_gene_variant,,ENST00000460728,;TRIM16,downstream_gene_variant,,ENST00000473540,;TRIM16,non_coding_transcript_exon_variant,,ENST00000577326,;TRIM16,downstream_gene_variant,,ENST00000473368,;							LOW	1074/1695		TRI16_HUMAN			Transcript			.	ENSP00000338989		CCDS11171.1			1	
ZNF708	0	LGGM	GRCh37	19	21477524	21477524	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	42	3	.	.	ENST00000356929.3:c.244G>A	p.Ala82Thr	p.A82T	ENST00000356929	NM_021269.2	82	Gcc/Acc	0	1	1	UPI000041F9DE	0	NA	ENST00000356929		ENSG00000182141	12945		45	0.32		HGNC	p.A82T		ZNF708		SNV							ENST00000356929	protein_coding	getma.org/?cm=var&var=hg19,19,21477524,C,T&fts=all		hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384		A/T		T	neutral	442/4004		getma.org/?cm=msa&ty=f&p=ZN708_HUMAN&rb=45&re=155&var=A82T	tolerated(0.61)	M0R1G3_HUMAN,M0QYN4_HUMAN			YES	ZNF708,missense_variant,p.Ala82Thr,ENST00000356929,NM_021269.2;ZNF708,missense_variant,p.Ala6Thr,ENST00000602023,;ZNF708,missense_variant,p.Ala18Thr,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;							MODERATE	244/1692	A82T	ZN708_HUMAN			Transcript		benign(0.02)	.	ENSP00000349401		CCDS32980.1			1	
AGO1	0	LGGM	GRCh37	1	36385129	36385129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	9	3	.	.	ENST00000373204.4:c.2495G>A	p.Ser832Asn	p.S832N	ENST00000373204	NM_012199.2	832	aGc/aAc	0	1	1	UPI000012D07D	0	NA	ENST00000373204		ENSG00000092847	3262		12	1.905		HGNC	p.S757N		AGO1		SNV							ENST00000373206	protein_coding	getma.org/?cm=var&var=hg19,1,36385129,G,A&fts=all		hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF17		S/N		A	medium	2708/12790		getma.org/?cm=msa&ty=f&p=AGO1_HUMAN&rb=817&re=857&var=S832N	deleterious(0.02)	Q5TA58_HUMAN			YES	AGO1,missense_variant,p.Ser832Asn,ENST00000373204,NM_012199.2;AGO1,missense_variant,p.Ser757Asn,ENST00000373206,;							MODERATE	2495/2574	S832N	AGO1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000362300		CCDS398.1			1	
CHRNA7	0	LGGM	GRCh37	15	32450703	32450703	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	19	4	.	.	ENST00000454250.3:c.776C>T	p.Thr259Met	p.T259M	ENST00000454250	NM_001190455.2	259	aCg/aTg	0	1		UPI000003581A	0	NA	ENST00000306901		ENSG00000175344	1960		23	3.91		HGNC	p.T259M	rs769876615,COSM74153	CHRNA7	6.06E-05	SNV			1			0,1	ENST00000454250	protein_coding	getma.org/?cm=var&var=hg19,15,32450703,C,T&fts=all		hmmpanther:PTHR18945:SF480,hmmpanther:PTHR18945,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:1.20.120.370,Superfamily_domains:SSF90112,Prints_domain:PR00252		T/M		T	high	786/5669		getma.org/?cm=msa&ty=f&p=ACHA7_HUMAN&rb=26&re=230&var=T230M	deleterious(0)	Q693P7_HUMAN				CHRNA7,missense_variant,p.Thr230Met,ENST00000306901,NM_000746.5;CHRNA7,missense_variant,p.Thr259Met,ENST00000454250,NM_001190455.2;CHRNA7,missense_variant,p.Thr49Met,ENST00000455693,;CHRNA7,3_prime_UTR_variant,,ENST00000437966,;					0,1		MODERATE	689/1509	T230M	ACHA7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000303727	8.24E-06	CCDS10027.1			1	
LRIT2	0	LGGM	GRCh37	10	85981837	85981837	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	28	19	.	.	ENST00000372113.4:c.1492C>T	p.Arg498Cys	p.R498C	ENST00000372113	NM_001017924.2	498	Cgc/Tgc	0	1	1	UPI00002374E4	0	NA	ENST00000372113		ENSG00000204033	23443	0.00026	47	0		HGNC	p.R508C	rs372043491,COSM1127990	LRIT2	0.000198	SNV	A:0					0,1	ENST00000538192	protein_coding	getma.org/?cm=var&var=hg19,10,85981837,G,A&fts=all				R/C	A:0.0001	A	neutral	1498/3081	4.64E-05	getma.org/?cm=msa&ty=f&p=LRIT2_HUMAN&rb=452&re=537&var=R498C	tolerated(0.15)				YES	LRIT2,missense_variant,p.Arg498Cys,ENST00000372113,NM_001017924.2;LRIT2,missense_variant,p.Arg508Cys,ENST00000538192,NM_001284223.1;CDHR1,downstream_gene_variant,,ENST00000372117,NM_033100.3;CDHR1,downstream_gene_variant,,ENST00000440770,;CDHR1,downstream_gene_variant,,ENST00000332904,NM_001171971.2;CDHR1,downstream_gene_variant,,ENST00000459673,;					0,1		MODERATE	1492/1653	R498C	LRIT2_HUMAN			Transcript		benign(0.001)	.	ENSP00000361185	7.41E-05	CCDS31234.1			1	
ARID2	0	LGGM	GRCh37	12	46123909	46123909	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	13	5	.	.	ENST00000334344.6:c.175G>T	p.Gly59Ter	p.G59*	ENST00000334344	NM_152641.2	59	Gga/Tga	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		18	0		HGNC	p.G59X		ARID2		SNV							ENST00000334344	protein_coding	getma.org/?cm=var&var=hg19,12,46123909,G,T&fts=all		Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774		G/*		T	NA	347/8642		NA		Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,stop_gained,p.Gly59Ter,ENST00000334344,NM_152641.2;ARID2,5_prime_UTR_variant,,ENST00000422737,;LINC00938,upstream_gene_variant,,ENST00000609803,;ARID2,non_coding_transcript_exon_variant,,ENST00000426776,;ARID2,non_coding_transcript_exon_variant,,ENST00000427628,;							HIGH	175/5508	G59*	ARID2_HUMAN			Transcript			.	ENSP00000335044		CCDS31783.1			1	
AGAP3	0	LGGM	GRCh37	7	150783984	150783984	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	10	6	.	.	ENST00000397238.2:c.156G>C	p.Gln52His	p.Q52H	ENST00000397238	NM_031946.5	52	caG/caC	0	1	1	UPI0000DAC777	0	NA	ENST00000397238		ENSG00000133612	16923		16	0		HGNC	p.Q52H		AGAP3		SNV							ENST00000473312	protein_coding	getma.org/?cm=var&var=hg19,7,150783984,G,C&fts=all		Low_complexity_(Seg):seg		Q/H		C	neutral	156/3225		getma.org/?cm=msa&ty=f&p=AGAP3_HUMAN&rb=1&re=92&var=Q16H	tolerated_low_confidence(0.05)	Q96T14_HUMAN,D3DX07_HUMAN			YES	AGAP3,missense_variant,p.Gln52His,ENST00000397238,NM_031946.5;AGAP3,missense_variant,p.Gln52His,ENST00000473312,NM_001042535.2;AGAP3,missense_variant,p.Gln52His,ENST00000479901,;AGAP3,intron_variant,,ENST00000463381,NM_001281300.1;TMUB1,upstream_gene_variant,,ENST00000392818,NM_031434.3;TMUB1,upstream_gene_variant,,ENST00000462940,;TMUB1,upstream_gene_variant,,ENST00000297533,NM_001136044.1;TMUB1,upstream_gene_variant,,ENST00000482202,;TMUB1,upstream_gene_variant,,ENST00000476627,;TMUB1,upstream_gene_variant,,ENST00000488752,;AGAP3,upstream_gene_variant,,ENST00000469901,;TMUB1,upstream_gene_variant,,ENST00000492838,;AGAP3,intron_variant,,ENST00000490097,;AGAP3,upstream_gene_variant,,ENST00000476375,;							MODERATE	156/2736	Q16H	AGAP3_HUMAN			Transcript		unknown(0)	.	ENSP00000380413		CCDS43681.1			1	
STX1A	0	LGGM	GRCh37	7	73118585	73118585	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	11	6	.	.	ENST00000222812.3:c.359A>T	p.His120Leu	p.H120L	ENST00000222812	NM_004603.3	120	cAc/cTc	0	1	1	UPI0000136065	0	getma.org/pdb.php?prot=STX1A_HUMAN&from=29&to=131&var=H120L	ENST00000222812		ENSG00000106089	11433		17	2.755		HGNC	p.H120L		STX1A		SNV			1				ENST00000395155	protein_coding	getma.org/?cm=var&var=hg19,7,73118585,T,A&fts=all		Gene3D:1.20.58.70,Pfam_domain:PF00804,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF84,SMART_domains:SM00503,Superfamily_domains:SSF47661		H/L		A	medium	386/2095		getma.org/?cm=msa&ty=f&p=STX1A_HUMAN&rb=29&re=131&var=H120L	deleterious(0.01)	Q75ME0_HUMAN			YES	STX1A,missense_variant,p.His120Leu,ENST00000222812,NM_004603.3;STX1A,missense_variant,p.His120Leu,ENST00000395156,NM_001165903.1;STX1A,missense_variant,p.His120Leu,ENST00000395154,;STX1A,missense_variant,p.His120Leu,ENST00000395155,;WBSCR22,3_prime_UTR_variant,,ENST00000423166,;STX1A,splice_region_variant,,ENST00000470878,;STX1A,splice_region_variant,,ENST00000496216,;STX1A,non_coding_transcript_exon_variant,,ENST00000480126,;STX1A,upstream_gene_variant,,ENST00000484736,;STX1A,upstream_gene_variant,,ENST00000491645,;STX1A,splice_region_variant,,ENST00000494245,;WBSCR22,3_prime_UTR_variant,,ENST00000436944,;STX1A,non_coding_transcript_exon_variant,,ENST00000491427,;STX1A,non_coding_transcript_exon_variant,,ENST00000462135,;STX1A,upstream_gene_variant,,ENST00000461441,;STX1A,upstream_gene_variant,,ENST00000497980,;							MODERATE	359/867	H120L	STX1A_HUMAN			Transcript		possibly_damaging(0.56)	.	ENSP00000222812		CCDS34655.1			1	
PHF21A	0	LGGM	GRCh37	11	45987142	45987142	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	4	6	.	.	ENST00000418153.2:c.717G>A	p.Val239=	p.V239=	ENST00000418153		239	gtG/gtA	0	1	1	UPI000006E1CB	0		ENST00000418153		ENSG00000135365	24156		10			HGNC	p.V239V		PHF21A		SNV			1				ENST00000418153	protein_coding			hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF6		V		T		917/2730				E9PR02_HUMAN,E9PQM3_HUMAN,E9PNW9_HUMAN,E9PLV4_HUMAN			YES	PHF21A,synonymous_variant,p.=,ENST00000257821,NM_001101802.1;PHF21A,synonymous_variant,p.=,ENST00000323180,NM_016621.3;PHF21A,synonymous_variant,p.=,ENST00000418153,;PHF21A,upstream_gene_variant,,ENST00000527753,;PHF21A,non_coding_transcript_exon_variant,,ENST00000527401,;							LOW	717/2043		PF21A_HUMAN			Transcript			.	ENSP00000398824		CCDS44578.1			1	
SLC17A2	0	LGGM	GRCh37	6	25915769	25915769	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	27	6	.	.	ENST00000360488.3:c.1063+195G>T		*355*	ENST00000360488	NM_005835.2			0	1		UPI0000470B4D	0		ENST00000265425		ENSG00000112337	10930		33			HGNC	p.C390F		SLC17A2		SNV							ENST00000265425	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF193,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		C/F		A		1190/1493			deleterious(0.01)					SLC17A2,missense_variant,p.Cys390Phe,ENST00000377850,NM_001286123.1;SLC17A2,missense_variant,p.Cys390Phe,ENST00000265425,;SLC17A2,intron_variant,,ENST00000360488,NM_005835.2;							MODERATE	1169/1320		NPT3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265425					1	
CACNA1S	0	LGGM	GRCh37	1	201038281	201038281	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	30	8	.	.	ENST00000362061.3:c.2534T>A	p.Val845Glu	p.V845E	ENST00000362061	NM_000069.2	845	gTg/gAg	0	1	1	UPI000020471D	0	getma.org/pdb.php?prot=CAC1S_HUMAN&from=834&to=1064&var=V845E	ENST00000362061		ENSG00000081248	1397		38	3.725		HGNC	p.V845E		CACNA1S		SNV			1				ENST00000362061	protein_coding	getma.org/?cm=var&var=hg19,1,201038281,A,T&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		V/E		T	high	2761/6166		getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=834&re=1064&var=V845E	deleterious(0)	Q13062_HUMAN,Q12966_HUMAN			YES	CACNA1S,missense_variant,p.Val845Glu,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Val845Glu,ENST00000367338,;							MODERATE	2534/5622	V845E	CAC1S_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000355192		CCDS1407.1			1	
OLFML3	0	LGGM	GRCh37	1	114522964	114522964	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	13	9	.	.	ENST00000320334.4:c.125C>T	p.Ala42Val	p.A42V	ENST00000320334	NM_020190.2	42	gCc/gTc	0	1	1	UPI000003B091	0	NA	ENST00000320334		ENSG00000116774	24956		22	0.805		HGNC	p.A22V		OLFML3		SNV							ENST00000369551	protein_coding	getma.org/?cm=var&var=hg19,1,114522964,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF8,Low_complexity_(Seg):seg		A/V		T	low	199/1780		getma.org/?cm=msa&ty=f&p=OLFL3_HUMAN&rb=1&re=137&var=A42V	tolerated(0.09)	M1LAK4_HUMAN,B4DNG0_HUMAN			YES	OLFML3,missense_variant,p.Ala22Val,ENST00000369551,NM_001286352.1;OLFML3,missense_variant,p.Ala42Val,ENST00000320334,NM_020190.2;OLFML3,missense_variant,p.Ala22Val,ENST00000393300,;HIPK1,downstream_gene_variant,,ENST00000369558,;HIPK1,downstream_gene_variant,,ENST00000369554,NM_198268.2;HIPK1,downstream_gene_variant,,ENST00000340480,NM_198269.2;HIPK1,downstream_gene_variant,,ENST00000406344,;HIPK1,downstream_gene_variant,,ENST00000361587,;OLFML3,non_coding_transcript_exon_variant,,ENST00000491700,;							MODERATE	125/1221	A42V	OLFL3_HUMAN			Transcript		benign(0.257)	.	ENSP00000322273		CCDS870.1			1	
OBP2A	0	LGGM	GRCh37	9	138439727	138439727	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	17	10	.	.	ENST00000539850.1:c.288G>T	p.Arg96Ser	p.R96S	ENST00000539850		96	agG/agT	0	1		UPI00000377BA	0	getma.org/pdb.php?prot=OBP2A_HUMAN&from=26&to=164&var=R96S	ENST00000371776		ENSG00000122136	23380		27	0.95		HGNC	p.E52X		OBP2A		SNV							ENST00000342114	protein_coding	getma.org/?cm=var&var=hg19,9,138439727,G,T&fts=all		Prints_domain:PR01175,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF6		R/S		T	low	330/689		getma.org/?cm=msa&ty=f&p=OBP2A_HUMAN&rb=26&re=164&var=R96S	deleterious(0)					OBP2A,stop_gained,p.Glu52Ter,ENST00000342114,;OBP2A,missense_variant,p.Arg96Ser,ENST00000539850,;OBP2A,missense_variant,p.Arg96Ser,ENST00000340780,;OBP2A,missense_variant,p.Arg96Ser,ENST00000371776,NM_014582.2;OBP2A,stop_gained,p.Glu52Ter,ENST00000537747,;OBP2A,missense_variant,p.Arg96Ser,ENST00000471886,;							MODERATE	288/513	R96S	OBP2A_HUMAN			Transcript		benign(0.243)	.	ENSP00000360841		CCDS6992.1			1	
PLXNB2	0	LGGM	GRCh37	22	50723076	50723076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	18	10	.	.	ENST00000449103.1:c.2107G>T	p.Gly703Cys	p.G703C	ENST00000449103		703	Ggc/Tgc	0	1		UPI000003812D	0	NA	ENST00000359337		ENSG00000196576	9104		28	2.045		HGNC	p.G703C	COSM125458	PLXNB2		SNV						1	ENST00000449103	protein_coding	getma.org/?cm=var&var=hg19,22,50723076,C,A&fts=all		hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625		G/C		A	medium	2216/6351		getma.org/?cm=msa&ty=f&p=PLXB2_HUMAN&rb=520&re=719&var=G703C	tolerated(0.07)	Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN				PLXNB2,missense_variant,p.Gly703Cys,ENST00000449103,;PLXNB2,missense_variant,p.Gly703Cys,ENST00000359337,NM_012401.3;PLXNB2,missense_variant,p.Gly45Cys,ENST00000434732,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000432455,;PLXNB2,upstream_gene_variant,,ENST00000427829,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000496720,;PLXNB2,upstream_gene_variant,,ENST00000479701,;PLXNB2,upstream_gene_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000492578,;					1		MODERATE	2107/5517	G703C	PLXB2_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000352288		CCDS43035.1			1	
PLXNB2	0	LGGM	GRCh37	22	50723077	50723077	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	18	10	.	.	ENST00000449103.1:c.2106G>T	p.Val702=	p.V702=	ENST00000449103		702	gtG/gtT	0	1		UPI000003812D	0		ENST00000359337		ENSG00000196576	9104		28			HGNC	p.V702V		PLXNB2		SNV							ENST00000449103	protein_coding			hmmpanther:PTHR22625:SF9,hmmpanther:PTHR22625		V		A		2215/6351				Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN				PLXNB2,synonymous_variant,p.=,ENST00000449103,;PLXNB2,synonymous_variant,p.=,ENST00000359337,NM_012401.3;PLXNB2,synonymous_variant,p.=,ENST00000434732,;PLXNB2,intron_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000432455,;PLXNB2,upstream_gene_variant,,ENST00000427829,;PLXNB2,non_coding_transcript_exon_variant,,ENST00000496720,;PLXNB2,upstream_gene_variant,,ENST00000479701,;PLXNB2,upstream_gene_variant,,ENST00000463165,;PLXNB2,upstream_gene_variant,,ENST00000492578,;							LOW	2106/5517		PLXB2_HUMAN			Transcript			.	ENSP00000352288		CCDS43035.1			1	
MFAP3L	0	LGGM	GRCh37	4	170913299	170913299	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	13	11	.	.	ENST00000361618.3:c.460A>G	p.Met154Val	p.M154V	ENST00000361618	NM_021647.6	154	Atg/Gtg	0	1	1	UPI0000073AA1	0	NA	ENST00000361618		ENSG00000198948	29083		24	1.285		HGNC	p.M51V		MFAP3L		SNV							ENST00000393704	protein_coding	getma.org/?cm=var&var=hg19,4,170913299,T,C&fts=all		hmmpanther:PTHR14340,hmmpanther:PTHR14340:SF2,Transmembrane_helices:TMhelix		M/V		C	low	768/6318		getma.org/?cm=msa&ty=f&p=MFA3L_HUMAN&rb=148&re=407&var=M154V	tolerated(0.32)	D6RGZ8_HUMAN,D6RDM6_HUMAN,D6RCF0_HUMAN,D6RCC0_HUMAN,D6RAB5_HUMAN,D6R9L7_HUMAN			YES	MFAP3L,missense_variant,p.Met154Val,ENST00000361618,NM_021647.6;MFAP3L,missense_variant,p.Met51Val,ENST00000393704,NM_001009554.2;MFAP3L,missense_variant,p.Met51Val,ENST00000512698,;MFAP3L,missense_variant,p.Met51Val,ENST00000502832,;MFAP3L,downstream_gene_variant,,ENST00000507601,;RP11-6E9.4,intron_variant,,ENST00000508955,;							MODERATE	460/1230	M154V	MFA3L_HUMAN			Transcript		benign(0.241)	.	ENSP00000354583		CCDS34103.1			1	
KCNIP4	0	LGGM	GRCh37	4	20734374	20734374	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	23	11	.	.	ENST00000382152.2:c.572T>C	p.Met191Thr	p.M191T	ENST00000382152	NM_025221.5	191	aTg/aCg	0	1	1	UPI000004A274	0	getma.org/pdb.php?prot=KCIP4_HUMAN&from=158&to=233&var=M191T	ENST00000382152		ENSG00000185774	30083		34	3		HGNC	p.M129T		KCNIP4		SNV							ENST00000359001	protein_coding	getma.org/?cm=var&var=hg19,4,20734374,A,G&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF30,hmmpanther:PTHR23055,Gene3D:1.10.238.10,Pfam_domain:PF13499,Superfamily_domains:SSF47473,Prints_domain:PR00450		M/T		G	medium	740/1767		getma.org/?cm=msa&ty=f&p=KCIP4_HUMAN&rb=158&re=233&var=M191T	deleterious(0)				YES	KCNIP4,missense_variant,p.Met166Thr,ENST00000382148,NM_001035003.1;KCNIP4,missense_variant,p.Met191Thr,ENST00000382152,NM_025221.5;KCNIP4,missense_variant,p.Met170Thr,ENST00000382150,NM_147183.3;KCNIP4,missense_variant,p.Met157Thr,ENST00000447367,NM_147182.3,NM_147181.3;KCNIP4,missense_variant,p.Met129Thr,ENST00000509207,NM_001035004.1;KCNIP4,missense_variant,p.Met129Thr,ENST00000359001,;PACRGL,intron_variant,,ENST00000507634,;PACRGL,downstream_gene_variant,,ENST00000360916,NM_145048.3;PACRGL,downstream_gene_variant,,ENST00000295290,;PACRGL,downstream_gene_variant,,ENST00000513459,;PACRGL,downstream_gene_variant,,ENST00000444671,NM_001130727.1;PACRGL,downstream_gene_variant,,ENST00000503585,NM_001258345.1;PACRGL,downstream_gene_variant,,ENST00000538990,;KCNIP4,non_coding_transcript_exon_variant,,ENST00000382149,;KCNIP4,3_prime_UTR_variant,,ENST00000515786,;PACRGL,intron_variant,,ENST00000471979,;PACRGL,intron_variant,,ENST00000467997,;PACRGL,intron_variant,,ENST00000506702,;							MODERATE	572/753	M191T	KCIP4_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000371587		CCDS43216.1			1	
CEACAM5	0	LGGM	GRCh37	19	42222226	42222226	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	26	11	.	.	ENST00000221992.6:c.1417G>A	p.Gly473Arg	p.G473R	ENST00000221992	NM_004363.2	473	Gga/Aga	0	1	1	UPI000013C7E5	0	getma.org/pdb.php?prot=CEAM5_HUMAN&from=417&to=496&var=G473R	ENST00000221992		ENSG00000105388	1817	0.000259	37	3.545		HGNC	p.G473R	rs376701458,COSM997102	CEACAM5	6.06E-05	SNV	A:0.0002			0.000288		0,1	ENST00000405816	protein_coding	getma.org/?cm=var&var=hg19,19,42222226,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF113,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		G/R	A:0	A	high	1531/2874	7.49E-05	getma.org/?cm=msa&ty=f&p=CEAM5_HUMAN&rb=417&re=496&var=G473R	deleterious(0.02)	Q7KZ28_HUMAN,M0QXV9_HUMAN			YES	CEACAM5,missense_variant,p.Gly473Arg,ENST00000221992,NM_004363.2;CEACAM5,missense_variant,p.Gly472Arg,ENST00000398599,;CEACAM5,missense_variant,p.Gly473Arg,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEACAM5,intron_variant,,ENST00000595403,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000596606,;					0,1		MODERATE	1417/2109	G473R	CEAM5_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000221992	9.88E-05	CCDS12584.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	23	15	.	.	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32V	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		38	2.46		HGNC	p.D32V	rs121913396,COSM5691	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266098,A,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/V		T	medium	375/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32V	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	95/2346	D32V	CTNB1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000344456		CCDS2694.1			1	
PTPRK	0	LGGM	GRCh37	6	128399959	128399959	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	32	15	.	.	ENST00000368213.5:c.1882A>T	p.Ser628Cys	p.S628C	ENST00000368213	NM_001135648.1	628	Agt/Tgt	0	1		UPI0000148ED1	0	NA	ENST00000368215		ENSG00000152894	9674		47	2.66		HGNC	p.S628C		PTPRK		SNV							ENST00000368210	protein_coding	getma.org/?cm=var&var=hg19,6,128399959,T,A&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF209		S/C		A	medium	1882/4651		getma.org/?cm=msa&ty=f&p=PTPRK_HUMAN&rb=597&re=680&var=S628C	deleterious(0)					PTPRK,missense_variant,p.Ser628Cys,ENST00000368227,;PTPRK,missense_variant,p.Ser628Cys,ENST00000368226,NM_002844.3;PTPRK,missense_variant,p.Ser628Cys,ENST00000368213,NM_001135648.1;PTPRK,missense_variant,p.Ser628Cys,ENST00000532331,;PTPRK,missense_variant,p.Ser628Cys,ENST00000368210,;PTPRK,missense_variant,p.Ser628Cys,ENST00000368207,;PTPRK,missense_variant,p.Ser628Cys,ENST00000368215,;RP11-103C16.2,intron_variant,,ENST00000417390,;PTPRK,splice_region_variant,,ENST00000524481,;PTPRK,splice_region_variant,,ENST00000524534,;PTPRK,splice_region_variant,,ENST00000531050,;							MODERATE	1882/4320	S628C	PTPRK_HUMAN			Transcript		benign(0.129)	.	ENSP00000357198					1	
MAP1A	0	LGGM	GRCh37	15	43820491	43820491	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	33	15	.	.	ENST00000300231.5:c.6820C>T	p.Arg2274Cys	p.R2274C	ENST00000300231		2274	Cgc/Tgc	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		48	1.04		HGNC	p.R2512C	rs767267121,COSM3816151	MAP1A		SNV						0,1	ENST00000382031	protein_coding	getma.org/?cm=var&var=hg19,15,43820491,C,T&fts=all		hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		R/C		T	low	7270/10258	1.51E-05	getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=1578&re=2490&var=R2274C					YES	MAP1A,missense_variant,p.Arg2512Cys,ENST00000382031,;MAP1A,missense_variant,p.Arg2274Cys,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Arg2274Cys,ENST00000300231,;					0,1		MODERATE	6820/8412	R2274C	MAP1A_HUMAN			Transcript		benign(0.016)	.	ENSP00000300231	8.27E-06	CCDS42031.1			1	
JAG1	0	LGGM	GRCh37	20	10620358	10620358	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	47	20	.	.	ENST00000254958.5:c.3445A>T	p.Ile1149Leu	p.I1149L	ENST00000254958	NM_000214.2	1149	Ata/Tta	0	1	1	UPI00000498B5	0	NA	ENST00000254958		ENSG00000101384	6188		67	0.895		HGNC	p.I990L		JAG1		SNV			1				ENST00000423891	protein_coding	getma.org/?cm=var&var=hg19,20,10620358,T,A&fts=all		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF212		I/L		A	low	3961/5987		getma.org/?cm=msa&ty=f&p=JAG1_HUMAN&rb=1058&re=1216&var=I1149L	tolerated(0.71)	B7U6M8_HUMAN,B4DYR1_HUMAN			YES	JAG1,missense_variant,p.Ile1149Leu,ENST00000254958,NM_000214.2;JAG1,missense_variant,p.Ile990Leu,ENST00000423891,;SLX4IP,downstream_gene_variant,,ENST00000488816,;							MODERATE	3445/3657	I1149L	JAG1_HUMAN			Transcript		benign(0.28)	.	ENSP00000254958		CCDS13112.1			1	
BCAM	0	LGGM	GRCh37	19	45317445	45317445	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	28	21	.	.	ENST00000270233.6:c.821C>G	p.Pro274Arg	p.P274R	ENST00000270233	NM_005581.4	274	cCg/cGg	0	1	1	UPI0000190806	0	NA	ENST00000270233		ENSG00000187244	6722		49	2.05		HGNC	p.P274R		BCAM		SNV			1				ENST00000391955	protein_coding	getma.org/?cm=var&var=hg19,19,45317445,C,G&fts=all		hmmpanther:PTHR11973:SF15,hmmpanther:PTHR11973,PROSITE_profiles:PS50835		P/R		G	medium	843/2402		getma.org/?cm=msa&ty=f&p=BCAM_HUMAN&rb=268&re=358&var=P274R	deleterious(0)	A9YWT4_HUMAN			YES	BCAM,missense_variant,p.Pro274Arg,ENST00000589651,;BCAM,missense_variant,p.Pro274Arg,ENST00000270233,NM_005581.4,NM_001013257.2;BCAM,missense_variant,p.Pro253Arg,ENST00000591520,;BCAM,intron_variant,,ENST00000590196,;BCAM,downstream_gene_variant,,ENST00000588303,;BCAM,downstream_gene_variant,,ENST00000588603,;BCAM,upstream_gene_variant,,ENST00000589558,;BCAM,downstream_gene_variant,,ENST00000590108,;							MODERATE	821/1887	P274R	BCAM_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000270233		CCDS12644.1			1	
EDNRB	0	LGGM	GRCh37	13	78477666	78477666	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	42	21	.	.	ENST00000377211.4:c.830T>A	p.Ile277Asn	p.I277N	ENST00000377211	NM_001201397.1	277	aTc/aAc	0	1		UPI00000503F8	0	getma.org/pdb.php?prot=EDNRB_HUMAN&from=118&to=387&var=I187N	ENST00000334286		ENSG00000136160	3180		63	3.27		HGNC	p.I187N		EDNRB		SNV			1				ENST00000446573	protein_coding	getma.org/?cm=var&var=hg19,13,78477666,A,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,PROSITE_profiles:PS50262		I/N		T	medium	797/4277		getma.org/?cm=msa&ty=f&p=EDNRB_HUMAN&rb=118&re=387&var=I187N	deleterious(0)					EDNRB,missense_variant,p.Ile277Asn,ENST00000377211,NM_001201397.1;EDNRB,missense_variant,p.Ile187Asn,ENST00000334286,NM_001122659.2,NM_000115.3;EDNRB,missense_variant,p.Ile187Asn,ENST00000446573,NM_003991.3;							MODERATE	560/1329	I187N	EDNRB_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000335311		CCDS9461.1			1	
ZKSCAN7	0	LGGM	GRCh37	3	44611997	44611997	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	48	23	.	.	ENST00000273320.3:c.1395A>G	p.Lys465=	p.K465=	ENST00000273320	NM_018651.2	465	aaA/aaG	0	1	1	UPI000013D9A9	0		ENST00000273320		ENSG00000196345	12955		71			HGNC	p.K314K		ZKSCAN7		SNV							ENST00000447279	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF205,Superfamily_domains:SSF57667		K		G		1824/3477							YES	ZKSCAN7,synonymous_variant,p.=,ENST00000273320,NM_018651.2,NM_001288590.1;ZKSCAN7,synonymous_variant,p.=,ENST00000426540,;ZKSCAN7,synonymous_variant,p.=,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,;							LOW	1395/2265		ZKSC7_HUMAN			Transcript			.	ENSP00000273320		CCDS2715.1			1	
AC006946.15	0	LGGM	GRCh37	22	17605658	17605658	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	37	24	.	.	ENST00000441544.1:c.225T>A	p.Thr75=	p.T75=	ENST00000441544		75	acT/acA	0	1	1	UPI000013F853	0		ENST00000441544		ENSG00000235478			61			Clone_based_vega_gene	p.T75T		AC006946.15		SNV							ENST00000441544	protein_coding					T		A		559/1175				C9JKK2_HUMAN			YES	AC006946.15,synonymous_variant,p.=,ENST00000441544,;CECR6,upstream_gene_variant,,ENST00000331437,NM_031890.3;CECR6,upstream_gene_variant,,ENST00000399875,NM_001163079.1;AC006946.15,3_prime_UTR_variant,,ENST00000428078,;							LOW	225/321					Transcript			.	ENSP00000394032					1	
PMP2	0	LGGM	GRCh37	8	82359609	82359609	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	34	24	.	.	ENST00000256103.2:c.13T>C	p.Phe5Leu	p.F5L	ENST00000256103	NM_002677.3	5	Ttc/Ctc	0	1	1	UPI000013CEEB	0	getma.org/pdb.php?prot=MYP2_HUMAN&from=1&to=5&var=F5L	ENST00000256103		ENSG00000147588	9117		58	1.195		HGNC	p.F5L		PMP2		SNV							ENST00000519260	protein_coding	getma.org/?cm=var&var=hg19,8,82359609,A,G&fts=all		Gene3D:2.40.128.20,Prints_domain:PR00178,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF64,Superfamily_domains:SSF50814		F/L		G	low	150/3608		getma.org/?cm=msa&ty=f&p=MYP2_HUMAN&rb=1&re=35&var=F5L	tolerated(0.22)				YES	PMP2,missense_variant,p.Phe5Leu,ENST00000256103,NM_002677.3;PMP2,missense_variant,p.Phe5Leu,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;							MODERATE	13/399	F5L	MYP2_HUMAN			Transcript		benign(0.12)	.	ENSP00000256103		CCDS6229.1			1	
PDXK	0	LGGM	GRCh37	21	45152432	45152432	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	203	25	.	.	ENST00000291565.4:c.88-1518T>G		*30*	ENST00000291565	NM_003681.4			0	1	1	UPI0000131524	0		ENST00000291565		ENSG00000160209	8819		228			HGNC	p.I58M		PDXK		SNV							ENST00000327574	protein_coding							G		-/7366				G1UI32_HUMAN			YES	PDXK,missense_variant,p.Ile58Met,ENST00000327574,;PDXK,intron_variant,,ENST00000291565,NM_003681.4;PDXK,intron_variant,,ENST00000468090,;PDXK,intron_variant,,ENST00000398081,;PDXK,intron_variant,,ENST00000476313,;PDXK,intron_variant,,ENST00000498040,;PDXK,intron_variant,,ENST00000398085,;PDXK,intron_variant,,ENST00000470029,;PDXK,intron_variant,,ENST00000472777,;PDXK,upstream_gene_variant,,ENST00000481512,;PDXK,downstream_gene_variant,,ENST00000438837,;							MODIFIER	-/939		PDXK_HUMAN			Transcript			.	ENSP00000291565		CCDS13699.1			1	
PAMR1	0	LGGM	GRCh37	11	35461189	35461189	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	41	25	.	.	ENST00000278360.3:c.1137G>A	p.Met379Ile	p.M379I	ENST00000278360	NM_015430.2	379	atG/atA	0	1	1	UPI000013DB70	0	NA	ENST00000278360		ENSG00000149090	24554		66	0		HGNC	p.M379I		PAMR1		SNV							ENST00000278360	protein_coding	getma.org/?cm=var&var=hg19,11,35461189,C,T&fts=all		hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF7		M/I		T	neutral	1175/2786		getma.org/?cm=msa&ty=f&p=PAMR1_HUMAN&rb=343&re=385&var=M362I	tolerated(0.4)	E9PQ70_HUMAN			YES	PAMR1,missense_variant,p.Met362Ile,ENST00000378880,NM_001001991.1;PAMR1,missense_variant,p.Met322Ile,ENST00000532848,NM_001282675.1;PAMR1,missense_variant,p.Met379Ile,ENST00000278360,NM_015430.2;PAMR1,missense_variant,p.Met339Ile,ENST00000527605,;PAMR1,missense_variant,p.Met251Ile,ENST00000378878,NM_001282676.1;PAMR1,downstream_gene_variant,,ENST00000529303,;PAMR1,upstream_gene_variant,,ENST00000531219,;							MODERATE	1137/2214	M362I	PAMR1_HUMAN			Transcript		benign(0.087)	.	ENSP00000278360		CCDS7898.1			1	
BRD7	0	LGGM	GRCh37	16	50368808	50368808	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	14	26	.	.	ENST00000394689.2:c.703-2A>G		p.X235_splice	ENST00000394689	NM_001173984.2			0	1		UPI0000073E3C	0		ENST00000394688		ENSG00000166164	14310		40			HGNC	-		BRD7		SNV							ENST00000394688	protein_coding							C		-/5370				I3L4V5_HUMAN,I3L0Y7_HUMAN				BRD7,splice_acceptor_variant,,ENST00000394688,;BRD7,splice_acceptor_variant,,ENST00000394689,NM_001173984.2,NM_013263.4;BRD7,splice_acceptor_variant,,ENST00000475877,;							HIGH	703/1956		BRD7_HUMAN			Transcript			.	ENSP00000378180		CCDS10742.1			1	
NHLRC3	0	LGGM	GRCh37	13	39621245	39621245	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	41	26	.	.	ENST00000379600.3:c.747A>G	p.Gly249=	p.G249=	ENST00000379600	NM_001012754.3	249	ggA/ggG	0	1	1	UPI0000251E60	0		ENST00000379600		ENSG00000188811	33751		67			HGNC	p.G249G		NHLRC3		SNV							ENST00000379600	protein_coding			hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898		G		G		1069/3549				C9J973_HUMAN			YES	NHLRC3,synonymous_variant,p.=,ENST00000379600,NM_001012754.3;NHLRC3,synonymous_variant,p.=,ENST00000470258,;NHLRC3,synonymous_variant,p.=,ENST00000379599,NM_001017370.2;NHLRC3,downstream_gene_variant,,ENST00000485407,;							LOW	747/1044		NHLC3_HUMAN			Transcript			.	ENSP00000368920		CCDS31961.1			1	
CHRNB2	0	LGGM	GRCh37	1	154544031	154544031	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	140	27	.	.	ENST00000368476.3:c.732C>T	p.Pro244=	p.P244=	ENST00000368476	NM_000748.2	244	ccC/ccT	0	1	1	UPI000012526E	0		ENST00000368476		ENSG00000160716	1962		167			HGNC	p.P244P		CHRNB2		SNV			1				ENST00000368476	protein_coding			Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF80,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		P		T		996/5867				Q5SXY3_HUMAN			YES	CHRNB2,synonymous_variant,p.=,ENST00000368476,NM_000748.2;							LOW	732/1509		ACHB2_HUMAN			Transcript			.	ENSP00000357461		CCDS1070.1			1	
GLI3	0	LGGM	GRCh37	7	42079646	42079646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	30	27	.	.	ENST00000395925.3:c.1019G>T	p.Ser340Ile	p.S340I	ENST00000395925	NM_000168.5	340	aGt/aTt	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		57	1.75		HGNC	p.S340I		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42079646,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		S/I		A	low	1104/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=120&re=469&var=S340I	deleterious(0)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Ser340Ile,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							MODERATE	1019/4743	S340I	GLI3_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000379258		CCDS5465.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186862145	186862145	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	142	28	.	.	ENST00000367466.3:c.118G>A	p.Asp40Asn	p.D40N	ENST00000367466	NM_024420.2	40	Gat/Aat	0	1	1	UPI0000203D76	0	getma.org/pdb.php?prot=PA24A_HUMAN&from=20&to=106&var=D40N	ENST00000367466		ENSG00000116711	9035		170	1.505		HGNC	p.D40N		PLA2G4A		SNV							ENST00000442353	protein_coding	getma.org/?cm=var&var=hg19,1,186862145,G,A&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00239,Superfamily_domains:SSF49562		D/N		A	low	270/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=20&re=106&var=D40N	deleterious(0.02)				YES	PLA2G4A,missense_variant,p.Asp40Asn,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Asp40Asn,ENST00000442353,;PLA2G4A,splice_region_variant,,ENST00000466600,;							MODERATE	118/2250	D40N	PA24A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356436		CCDS1372.1			1	
MACF1	0	LGGM	GRCh37	1	39765887	39765887	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	49	29	.	.	ENST00000545844.1:c.2502A>G	p.Glu834=	p.E834=	ENST00000545844		834	gaA/gaG	0	1		UPI0001F78894	0		ENST00000372915		ENSG00000127603	13664		78			HGNC	p.E829E		MACF1		SNV							ENST00000564288	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37		E		G		2589/23440				Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				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,upstream_gene_variant,,ENST00000372925,;MACF1,upstream_gene_variant,,ENST00000476350,;MACF1,synonymous_variant,p.=,ENST00000496804,;HSPE1P8,downstream_gene_variant,,ENST00000406997,;							LOW	2502/22167		MACF1_HUMAN			Transcript			.	ENSP00000362006					1	
MYBL1	0	LGGM	GRCh37	8	67509760	67509760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	79	29	.	.	ENST00000522677.3:c.317G>T	p.Gly106Val	p.G106V	ENST00000522677	NM_001080416.2	106	gGg/gTg	0	1	1	UPI000012FADE	0	getma.org/pdb.php?prot=MYBA_HUMAN&from=90&to=148&var=G106V	ENST00000522677		ENSG00000185697	7547		108	4.22		HGNC	p.G106V		MYBL1		SNV							ENST00000522677	protein_coding	getma.org/?cm=var&var=hg19,8,67509760,C,A&fts=all		Superfamily_domains:SSF46689,SMART_domains:SM00717,Gene3D:1.10.10.60,hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641,PROSITE_profiles:PS51294		G/V		A	high	728/5192		getma.org/?cm=msa&ty=f&p=MYBA_HUMAN&rb=90&re=148&var=G106V	deleterious(0)	Q6LD85_HUMAN			YES	MYBL1,missense_variant,p.Gly106Val,ENST00000522677,NM_001080416.2,NM_001144755.1;MYBL1,missense_variant,p.Gly106Val,ENST00000524176,;MYBL1,missense_variant,p.Gly106Val,ENST00000517885,;MYBL1,non_coding_transcript_exon_variant,,ENST00000518079,;							MODERATE	317/2259	G106V	MYBA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000429633		CCDS47867.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37508519	37508519	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	56	29	.	.	ENST00000361713.1:c.3711T>A	p.Cys1237Ter	p.C1237*	ENST00000361713	NM_052997.2	1237	tgT/tgA	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		85	0		HGNC	p.C1237X		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37508519,T,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14915		C/*		A	NA	3810/4405		NA		R4GNA2_HUMAN			YES	ANKRD30A,stop_gained,p.Cys1356Ter,ENST00000374660,;ANKRD30A,stop_gained,p.Cys1237Ter,ENST00000602533,;ANKRD30A,stop_gained,p.Cys1237Ter,ENST00000361713,NM_052997.2;							HIGH	3711/4026	C1293*	AN30A_HUMAN			Transcript			.	ENSP00000354432		CCDS7193.1			1	
RC3H1	0	LGGM	GRCh37	1	173952612	173952612	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	129	30	.	.	ENST00000367696.2:c.536T>G	p.Leu179Arg	p.L179R	ENST00000367696		179	cTc/cGc	0	1		UPI00001D7DA8	0	NA	ENST00000258349		ENSG00000135870	29434		159	2.545		HGNC	p.L179R		RC3H1		SNV							ENST00000258349	protein_coding	getma.org/?cm=var&var=hg19,1,173952612,A,C&fts=all		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF6		L/R		C	medium	615/10988		getma.org/?cm=msa&ty=f&p=RC3H1_HUMAN&rb=55&re=254&var=L179R	deleterious(0)	B9EGU6_HUMAN				RC3H1,missense_variant,p.Leu179Arg,ENST00000367696,;RC3H1,missense_variant,p.Leu179Arg,ENST00000258349,NM_172071.2;RC3H1,missense_variant,p.Leu179Arg,ENST00000367694,;RC3H1,upstream_gene_variant,,ENST00000484867,;							MODERATE	536/3402	L179R	RC3H1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258349		CCDS30940.1			1	
ZNF729	0	LGGM	GRCh37	19	22497453	22497453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	62	31	.	.	ENST00000601693.1:c.1234G>T	p.Ala412Ser	p.A412S	ENST00000601693		412	Gct/Tct	0	1	1	UPI000042600C	0	getma.org/pdb.php?prot=ZN729_HUMAN&from=390&to=415&var=A412S	ENST00000601693		ENSG00000196350	32464		93	0.505		HGNC	p.A412S		ZNF729		SNV							ENST00000357491	protein_coding	getma.org/?cm=var&var=hg19,19,22497453,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/S		T	neutral	1352/3877		getma.org/?cm=msa&ty=f&p=ZN729_HUMAN&rb=370&re=435&var=A412S	tolerated(0.12)	M0QY45_HUMAN			YES	ZNF729,missense_variant,p.Ala412Ser,ENST00000601693,;ZNF729,missense_variant,p.Ala412Ser,ENST00000357491,NM_001242680.1;							MODERATE	1234/3759	A412S				Transcript		possibly_damaging(0.763)	.	ENSP00000469582		CCDS59368.1			1	
OR2L13	0	LGGM	GRCh37	1	248262883	248262883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	139	32	.	.	ENST00000366478.2:c.206A>G	p.Asp69Gly	p.D69G	ENST00000366478	NM_175911.2	69	gAc/gGc	0	1		UPI0000043517	0	NA	ENST00000358120		ENSG00000196071	19578		171	3.67		HGNC	p.D69G		OR2L13		SNV							ENST00000358120	protein_coding	getma.org/?cm=var&var=hg19,1,248262883,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF102,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		D/G		G	high	351/1692		getma.org/?cm=msa&ty=f&p=OR2LD_HUMAN&rb=1&re=137&var=D69G	deleterious(0)					OR2L13,missense_variant,p.Asp69Gly,ENST00000366478,NM_175911.2;OR2L13,missense_variant,p.Asp69Gly,ENST00000358120,;							MODERATE	206/939	D69G	OR2LD_HUMAN			Transcript		benign(0.163)	.	ENSP00000350836		CCDS1637.1			1	
ZNF121	0	LGGM	GRCh37	19	9677602	9677602	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	51	32	.	.	ENST00000320451.6:c.187G>C	p.Val63Leu	p.V63L	ENST00000320451	NM_001008727.2	63	Gtg/Ctg	0	1	1	UPI0000203287	0	getma.org/pdb.php?prot=ZN121_HUMAN&from=1&to=128&var=V63L	ENST00000320451		ENSG00000197961	12904		83	1.285		HGNC	p.V63L		ZNF121		SNV							ENST00000320451	protein_coding	getma.org/?cm=var&var=hg19,19,9677602,C,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF119		V/L		G	low	419/1563		getma.org/?cm=msa&ty=f&p=ZN121_HUMAN&rb=1&re=128&var=V63L	tolerated(0.14)	K7EQI1_HUMAN			YES	ZNF121,missense_variant,p.Val63Leu,ENST00000586602,;ZNF121,missense_variant,p.Val63Leu,ENST00000320451,NM_001008727.2;ZNF121,missense_variant,p.Val63Leu,ENST00000591447,;ZNF121,upstream_gene_variant,,ENST00000590933,;							MODERATE	187/1173	V63L	ZN121_HUMAN			Transcript		benign(0.118)	.	ENSP00000326967		CCDS32902.1			1	
SPAG7	0	LGGM	GRCh37	17	4863369	4863369	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	24	33	.	.	ENST00000206020.3:c.365G>A	p.Arg122His	p.R122H	ENST00000206020	NM_004890.2	122	cGt/cAt	0	1	1	UPI000006FBF5	0	getma.org/pdb.php?prot=SPAG7_HUMAN&from=109&to=227&var=R122H	ENST00000206020		ENSG00000091640	11216		57	2.525		HGNC	p.R122H	rs369733828	SPAG7		SNV	T:0.0003			0.000102			ENST00000206020	protein_coding	getma.org/?cm=var&var=hg19,17,4863369,C,T&fts=all		Superfamily_domains:SSF82708,PIRSF_domain:PIRSF037943,hmmpanther:PTHR13498		R/H	T:0.0001	T	medium	433/1058	1.50E-05	getma.org/?cm=msa&ty=f&p=SPAG7_HUMAN&rb=109&re=227&var=R122H	deleterious(0.02)	I3L0X5_HUMAN			YES	SPAG7,missense_variant,p.Arg71His,ENST00000573366,;SPAG7,missense_variant,p.Arg111His,ENST00000575142,;SPAG7,missense_variant,p.Arg122His,ENST00000206020,NM_004890.2;ENO3,downstream_gene_variant,,ENST00000323997,NM_001976.4,NM_053013.3;ENO3,downstream_gene_variant,,ENST00000518175,;ENO3,downstream_gene_variant,,ENST00000519584,NM_001193503.1;ENO3,downstream_gene_variant,,ENST00000522301,;ENO3,downstream_gene_variant,,ENST00000519602,;ENO3,downstream_gene_variant,,ENST00000520221,;ENO3,downstream_gene_variant,,ENST00000522249,;SPAG7,3_prime_UTR_variant,,ENST00000575784,;SPAG7,non_coding_transcript_exon_variant,,ENST00000572148,;ENO3,downstream_gene_variant,,ENST00000521659,;ENO3,downstream_gene_variant,,ENST00000522954,;ENO3,downstream_gene_variant,,ENST00000522425,;SPAG7,downstream_gene_variant,,ENST00000573805,;							MODERATE	365/684	R122H	SPAG7_HUMAN			Transcript		benign(0.061)	.	ENSP00000206020	1.65E-05	CCDS42240.1			1	
TBC1D32	0	LGGM	GRCh37	6	121602709	121602709	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	60	33	.	.	ENST00000398212.2:c.1589A>G	p.Asn530Ser	p.N530S	ENST00000398212	NM_152730.4	530	aAt/aGt	0	1	1	UPI0000E67203	0	NA	ENST00000398212		ENSG00000146350	21485		93	0.885		HGNC	p.N530S		TBC1D32		SNV							ENST00000275159	protein_coding	getma.org/?cm=var&var=hg19,6,121602709,T,C&fts=all		hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961		N/S		C	low	1639/3824		getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=N530S	tolerated(1)	A2A304_HUMAN			YES	TBC1D32,missense_variant,p.Asn530Ser,ENST00000275159,;TBC1D32,missense_variant,p.Asn530Ser,ENST00000398212,NM_152730.4;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;							MODERATE	1589/3774	N530S	BROMI_HUMAN			Transcript		benign(0.006)	.	ENSP00000381270		CCDS43501.1			1	
WNK1	0	LGGM	GRCh37	12	968454	968454	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	70	34	.	.	ENST00000315939.6:c.1444G>T	p.Glu482Ter	p.E482*	ENST00000315939	NM_018979.3	482	Gaa/Taa	0	1	1	UPI000013CD65	0	NA	ENST00000315939		ENSG00000060237	14540		104	0		HGNC	p.E75X		WNK1		SNV			1				ENST00000340908	protein_coding	getma.org/?cm=var&var=hg19,12,968454,G,T&fts=all		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46		E/*		T	NA	2087/10452		NA		Q96CZ6_HUMAN			YES	WNK1,stop_gained,p.Glu482Ter,ENST00000537687,NM_001184985.1,NM_213655.4;WNK1,stop_gained,p.Glu482Ter,ENST00000315939,NM_018979.3;WNK1,stop_gained,p.Glu482Ter,ENST00000535572,NM_014823.2;WNK1,stop_gained,p.Glu482Ter,ENST00000530271,;WNK1,stop_gained,p.Glu75Ter,ENST00000340908,;WNK1,upstream_gene_variant,,ENST00000535698,;WNK1,upstream_gene_variant,,ENST00000544965,;WNK1,upstream_gene_variant,,ENST00000545285,;WNK1,non_coding_transcript_exon_variant,,ENST00000540360,;WNK1,non_coding_transcript_exon_variant,,ENST00000538787,;							HIGH	1444/7149	E482*	WNK1_HUMAN			Transcript			.	ENSP00000313059		CCDS8506.1			1	
CCZ1B	0	LGGM	GRCh37	7	6851594	6851594	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072926	H072926N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	35	35	.	.	ENST00000316731.8:c.943A>G	p.Ile315Val	p.I315V	ENST00000316731	NM_198097.3	315	Atc/Gtc	0	1	1	UPI000006CEFF	0		ENST00000316731		ENSG00000146574	21717		70			HGNC	p.I172V		CCZ1B		SNV							ENST00000538180	protein_coding			hmmpanther:PTHR13056,Pfam_domain:PF08217		I/V		C		1516/2885			tolerated(0.31)	Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1B,missense_variant,p.Ile315Val,ENST00000316731,NM_198097.3;CCZ1B,missense_variant,p.Ile172Val,ENST00000538180,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000462378,;CCZ1B,non_coding_transcript_exon_variant,,ENST00000485620,;CCZ1B,upstream_gene_variant,,ENST00000467004,;CCZ1B,downstream_gene_variant,,ENST00000411858,;CCZ1B,downstream_gene_variant,,ENST00000490178,;							MODERATE	943/1449		CCZ1B_HUMAN			Transcript		benign(0.134)	.	ENSP00000314544		CCDS5354.1			1	
PPP1R12A	0	LGGM	GRCh37	12	80222127	80222127	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	81	35	.	.	ENST00000450142.2:c.765G>A	p.Leu255=	p.L255=	ENST00000450142	NM_002480.2	255	ctG/ctA	0	1		UPI0000073E69	0		ENST00000261207		ENSG00000058272	7618		116			HGNC	p.L255L	rs761850764	PPP1R12A	6.06E-05	SNV							ENST00000261207	protein_coding			Superfamily_domains:SSF48403,PIRSF_domain:PIRSF038141,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF20,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		L		T		888/5582				F8VW28_HUMAN				PPP1R12A,synonymous_variant,p.=,ENST00000450142,NM_002480.2;PPP1R12A,synonymous_variant,p.=,ENST00000261207,NM_001143885.1;PPP1R12A,synonymous_variant,p.=,ENST00000437004,NM_001244990.1;PPP1R12A,synonymous_variant,p.=,ENST00000546369,NM_001143886.1;PPP1R12A,synonymous_variant,p.=,ENST00000550107,NM_001244992.1;PPP1R12A,synonymous_variant,p.=,ENST00000547330,;PPP1R12A,synonymous_variant,p.=,ENST00000550510,;PPP1R12A,downstream_gene_variant,,ENST00000548318,;RP11-530C5.2,downstream_gene_variant,,ENST00000548469,;PPP1R12A,non_coding_transcript_exon_variant,,ENST00000551191,;							LOW	765/3093		MYPT1_HUMAN			Transcript			.	ENSP00000261207	8.27E-06	CCDS44947.1			1	
EPG5	0	LGGM	GRCh37	18	43462243	43462243	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072926	H072926N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	37	36	.	.	ENST00000282041.5:c.5514G>C	p.Met1838Ile	p.M1838I	ENST00000282041	NM_020964.2	1838	atG/atC	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		73	1.355		HGNC	p.M1838I		EPG5		SNV			1				ENST00000282041	protein_coding	getma.org/?cm=var&var=hg19,18,43462243,C,G&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		M/I		G	low	5549/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=M1838I	deleterious(0.03)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Met1838Ile,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,missense_variant,p.Met713Ile,ENST00000592272,;EPG5,3_prime_UTR_variant,,ENST00000587884,;EPG5,3_prime_UTR_variant,,ENST00000590884,;							MODERATE	5514/7740	M1838I	EPG5_HUMAN			Transcript		benign(0.004)	.	ENSP00000282041		CCDS11926.2			1	
EPG5	0	LGGM	GRCh37	18	43462242	43462242	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	36	36	.	.	ENST00000282041.5:c.5515C>A	p.Gln1839Lys	p.Q1839K	ENST00000282041	NM_020964.2	1839	Caa/Aaa	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		72	1.43		HGNC	p.Q1839K		EPG5		SNV			1				ENST00000282041	protein_coding	getma.org/?cm=var&var=hg19,18,43462242,G,T&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		Q/K		T	low	5550/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=Q1839K	deleterious(0.04)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Gln1839Lys,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,missense_variant,p.Gln714Lys,ENST00000592272,;EPG5,3_prime_UTR_variant,,ENST00000587884,;EPG5,3_prime_UTR_variant,,ENST00000590884,;							MODERATE	5515/7740	Q1839K	EPG5_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000282041		CCDS11926.2			1	
DLL4	0	LGGM	GRCh37	15	41229673	41229673	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	82	45	.	.	ENST00000249749.5:c.2001G>C	p.Gln667His	p.Q667H	ENST00000249749	NM_019074.3	667	caG/caC	0	1	1	UPI0000047825	0	NA	ENST00000249749		ENSG00000128917	2910		127	2.42		HGNC	p.Q667H		DLL4		SNV							ENST00000249749	protein_coding	getma.org/?cm=var&var=hg19,15,41229673,G,C&fts=all		hmmpanther:PTHR24044:SF249,hmmpanther:PTHR24044		Q/H		C	medium	2277/3339		getma.org/?cm=msa&ty=f&p=DLL4_HUMAN&rb=533&re=683&var=Q667H	tolerated(0.17)				YES	DLL4,missense_variant,p.Gln667His,ENST00000249749,NM_019074.3;DLL4,downstream_gene_variant,,ENST00000559440,;							MODERATE	2001/2058	Q667H	DLL4_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000249749		CCDS45232.1			1	
STK32A	0	LGGM	GRCh37	5	146703481	146703481	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072926	H072926N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	51	51	.	.	ENST00000397936.3:c.281A>G	p.Glu94Gly	p.E94G	ENST00000397936	NM_001112724.1	94	gAa/gGa	0	1	1	UPI000003FDBE	0	getma.org/pdb.php?prot=ST32A_HUMAN&from=23&to=281&var=E94G	ENST00000397936		ENSG00000169302	28317		102	0.4		HGNC	p.E94G		STK32A		SNV							ENST00000398523	protein_coding	getma.org/?cm=var&var=hg19,5,146703481,A,G&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF143,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/G		G	neutral	614/5393		getma.org/?cm=msa&ty=f&p=ST32A_HUMAN&rb=23&re=281&var=E94G	deleterious(0)				YES	STK32A,missense_variant,p.Glu94Gly,ENST00000397936,NM_001112724.1;STK32A,missense_variant,p.Glu94Gly,ENST00000398523,;STK32A,missense_variant,p.Glu94Gly,ENST00000541094,NM_145001.3;STK32A,missense_variant,p.Glu94Gly,ENST00000398521,;STK32A,non_coding_transcript_exon_variant,,ENST00000306304,;							MODERATE	281/1191	E94G	ST32A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381030		CCDS47299.1			1	
SP140	0	LGGM	GRCh37	2	231112702	231112702	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	56	59	.	.	ENST00000392045.3:c.814G>A	p.Glu272Lys	p.E272K	ENST00000392045	NM_007237.4	272	Gag/Aag	0	1	1	UPI0000209746	0	NA	ENST00000392045		ENSG00000079263	17133		115	0.345		HGNC	p.E272K	rs765116848	SP140	6.06E-05	SNV							ENST00000420434	protein_coding	getma.org/?cm=var&var=hg19,2,231112702,G,A&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF1		E/K		A	neutral	928/3246	3.00E-05	getma.org/?cm=msa&ty=f&p=LY10_HUMAN&rb=140&re=339&var=E272K	tolerated(0.56)				YES	SP140,missense_variant,p.Glu272Lys,ENST00000392045,NM_007237.4;SP140,missense_variant,p.Glu272Lys,ENST00000420434,NM_001278451.1;SP140,missense_variant,p.Glu246Lys,ENST00000343805,NM_001278452.1;SP140,intron_variant,,ENST00000350136,;SP140,intron_variant,,ENST00000417495,NM_001278453.1;SP140,intron_variant,,ENST00000486687,;							MODERATE	814/2604	E272K	SP140_HUMAN			Transcript		benign(0)	.	ENSP00000375899	2.48E-05	CCDS42831.1			1	
PRG4	0	LGGM	GRCh37	1	186281421	186281421	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	103	65	.	.	ENST00000445192.2:c.3908G>A	p.Arg1303His	p.R1303H	ENST00000445192	NM_005807.3	1303	cGc/cAc	0	1	1	UPI0000070EF9	0	NA	ENST00000445192		ENSG00000116690	9364		168	2.095		HGNC	p.R1210H	rs771654669,COSM901106	PRG4	6.06E-05	SNV			1			0,1	ENST00000367485	protein_coding	getma.org/?cm=var&var=hg19,1,186281421,G,A&fts=all		hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1		R/H		A	medium	3953/5044		getma.org/?cm=msa&ty=f&p=PRG4_HUMAN&rb=1241&re=1404&var=R1303H		B3KQ20_HUMAN			YES	PRG4,missense_variant,p.Arg1303His,ENST00000445192,NM_005807.3;PRG4,missense_variant,p.Arg1262His,ENST00000367483,NM_001127708.1;PRG4,missense_variant,p.Arg1260His,ENST00000367486,;PRG4,missense_variant,p.Arg1210His,ENST00000367485,NM_001127710.1,NM_001127709.1;PRG4,missense_variant,p.Arg832His,ENST00000367484,;TPR,3_prime_UTR_variant,,ENST00000367478,NM_003292.2;PRG4,downstream_gene_variant,,ENST00000367482,;RNU6-1240P,upstream_gene_variant,,ENST00000365155,;					0,1		MODERATE	3908/4215	R1303H	PRG4_HUMAN			Transcript		unknown(0)	.	ENSP00000399679	8.24E-06	CCDS1369.1			1	
FAM26F	0	LGGM	GRCh37	6	116784727	116784727	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072926	H072926N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072926N.bam, H072926T.bam	Illumina HiSeq	97	68	.	.	ENST00000368605.1:c.807G>A	p.Lys269=	p.K269=	ENST00000368605	NM_001010919.2	269	aaG/aaA	0	1	1	UPI0000161884	0		ENST00000368605		ENSG00000188820	33391		165			HGNC	p.K269K		FAM26F		SNV							ENST00000368605	protein_coding			hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF6		K		A		902/1109							YES	FAM26F,synonymous_variant,p.=,ENST00000368605,NM_001010919.2;FAM26F,synonymous_variant,p.=,ENST00000368606,NM_001276460.1;FAM26F,synonymous_variant,p.=,ENST00000368604,;RP1-93H18.6,intron_variant,,ENST00000476099,;KRT18P22,upstream_gene_variant,,ENST00000402024,;							LOW	807/948		FA26F_HUMAN			Transcript			.	ENSP00000357594		CCDS34519.1			1	
TBC1D12	0	LGGM	GRCh37	10	96292820	96292820	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	22	2	.	.	ENST00000225235.4:c.2295A>G	p.Gly765=	p.G765=	ENST00000225235	NM_015188.1	765	ggA/ggG	0	1	1	UPI00001C1ED6	0		ENST00000225235		ENSG00000108239	29082		24			HGNC	p.G765G		TBC1D12		SNV							ENST00000225235	protein_coding					G		G		2405/5272				B9A6L3_HUMAN			YES	TBC1D12,synonymous_variant,p.=,ENST00000225235,NM_015188.1;TBC1D12,non_coding_transcript_exon_variant,,ENST00000485048,;TBC1D12,upstream_gene_variant,,ENST00000457045,;							LOW	2295/2328		TBC12_HUMAN			Transcript			.	ENSP00000225235		CCDS41553.1			1	
TSG101	0	LGGM	GRCh37	11	18548325	18548325	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	8	2	.	.	ENST00000251968.3:c.39C>A	p.Ser13=	p.S13=	ENST00000251968	NM_006292.3	13	tcC/tcA	0	1	1	UPI000004750C	0		ENST00000251968		ENSG00000074319	15971		10			HGNC	p.S13S		TSG101		SNV							ENST00000251968	protein_coding			Gene3D:3.10.110.10,PROSITE_profiles:PS51322,hmmpanther:PTHR23306,hmmpanther:PTHR23306:SF17,Superfamily_domains:SSF54495		S		T		455/1824				L0L6B6_HUMAN,J3QRU6_HUMAN,D3DQY6_HUMAN			YES	TSG101,synonymous_variant,p.=,ENST00000536719,;TSG101,synonymous_variant,p.=,ENST00000251968,NM_006292.3;TSG101,synonymous_variant,p.=,ENST00000357193,;UEVLD,downstream_gene_variant,,ENST00000396197,NM_001040697.2,NM_001261384.1;UEVLD,downstream_gene_variant,,ENST00000543987,NM_018314.4;UEVLD,downstream_gene_variant,,ENST00000535484,NM_001261385.1;TSG101,non_coding_transcript_exon_variant,,ENST00000535077,;TSG101,non_coding_transcript_exon_variant,,ENST00000438874,;TSG101,non_coding_transcript_exon_variant,,ENST00000544804,;TSG101,non_coding_transcript_exon_variant,,ENST00000542488,;UEVLD,downstream_gene_variant,,ENST00000540666,;TSG101,non_coding_transcript_exon_variant,,ENST00000545247,;							LOW	39/1173		TS101_HUMAN			Transcript			.	ENSP00000251968		CCDS7842.1			1	
PGR	0	LGGM	GRCh37	11	100998924	100998924	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	7	2	.	.	ENST00000325455.5:c.878G>T	p.Arg293Leu	p.R293L	ENST00000325455	NM_001202474.3	293	cGc/cTc	0	1	1	UPI0000046E22	0	NA	ENST00000325455		ENSG00000082175	8910		9	2.395		HGNC	p.R293L		PGR		SNV							ENST00000528960	protein_coding	getma.org/?cm=var&var=hg19,11,100998924,C,A&fts=all		Pfam_domain:PF02161,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7		R/L		A	medium	2332/13748		getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=1&re=564&var=R293L	deleterious_low_confidence(0)	Q6TZ07_HUMAN			YES	PGR,missense_variant,p.Arg293Leu,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Arg293Leu,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,;PGR,missense_variant,p.Arg293Leu,ENST00000534780,;PGR,missense_variant,p.Arg293Leu,ENST00000528960,;PGR,missense_variant,p.Arg293Leu,ENST00000526300,;							MODERATE	878/2802	R293L	PRGR_HUMAN			Transcript		benign(0.23)	.	ENSP00000325120		CCDS8310.1			1	
UBAP2	0	LGGM	GRCh37	9	33922796	33922796	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	10	3	.	.	ENST00000379238.1:c.3153G>A	p.Leu1051=	p.L1051=	ENST00000379238		1051	ctG/ctA	0	1		UPI0000140784	0		ENST00000360802		ENSG00000137073	14185		13			HGNC	p.L1051L		UBAP2		SNV							ENST00000379238	protein_coding			hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17,Low_complexity_(Seg):seg		L		T		3266/4284				Q5JV03_HUMAN				UBAP2,synonymous_variant,p.=,ENST00000379238,;UBAP2,synonymous_variant,p.=,ENST00000360802,NM_018449.2;UBAP2,synonymous_variant,p.=,ENST00000449054,;UBAP2,synonymous_variant,p.=,ENST00000379239,NM_001282529.1;UBAP2,synonymous_variant,p.=,ENST00000539807,;UBAP2,synonymous_variant,p.=,ENST00000379235,;UBE2R2,downstream_gene_variant,,ENST00000263228,NM_017811.3;UBAP2,downstream_gene_variant,,ENST00000474372,;UBAP2,downstream_gene_variant,,ENST00000488443,;							LOW	3153/3360		UBAP2_HUMAN			Transcript			.	ENSP00000354039		CCDS6547.1			1	
BOLL	0	LGGM	GRCh37	2	198650708	198650708	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	5	3	.	.	ENST00000321801.7:c.20C>G	p.Pro7Arg	p.P7R	ENST00000321801	NM_197970.2	7	cCg/cGg	0	1		UPI000006F9F3	0		ENST00000392296		ENSG00000152430	14273		8		634	HGNC	p.P7R	rs753654719	BOLL		SNV							ENST00000321801	protein_coding							C		-/2838	1.55E-05							BOLL,missense_variant,p.Pro7Arg,ENST00000321801,NM_197970.2;BOLL,splice_region_variant,,ENST00000282278,NM_001284358.1;BOLL,upstream_gene_variant,,ENST00000430004,NM_001284361.1;BOLL,upstream_gene_variant,,ENST00000392296,NM_033030.5;BOLL,upstream_gene_variant,,ENST00000433157,;BOLL,downstream_gene_variant,,ENST00000486206,;BOLL,missense_variant,p.Pro7Arg,ENST00000434976,;							MODIFIER	-/852		BOLL_HUMAN			Transcript			.	ENSP00000376116	8.24E-06	CCDS2325.1			1	
FAM83F	0	LGGM	GRCh37	22	40417884	40417884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	27	3	.	.	ENST00000333407.6:c.1370C>T	p.Ala457Val	p.A457V	ENST00000333407	NM_138435.2	457	gCc/gTc	0	1	1	UPI0000071BF1	0	NA	ENST00000333407		ENSG00000133477	25148		30	0.805		HGNC	p.A457V		FAM83F		SNV							ENST00000333407	protein_coding	getma.org/?cm=var&var=hg19,22,40417884,C,T&fts=all		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF9		A/V		T	low	1464/15561		getma.org/?cm=msa&ty=f&p=FA83F_HUMAN&rb=299&re=498&var=A457V	tolerated_low_confidence(0.07)				YES	FAM83F,missense_variant,p.Ala457Val,ENST00000333407,NM_138435.2;FAM83F,missense_variant,p.Ala289Val,ENST00000473717,;							MODERATE	1370/1503	A457V	FA83F_HUMAN			Transcript		benign(0.08)	.	ENSP00000330432		CCDS14000.2			1	
IGHV3-66	0	LGGM	GRCh37	14	107131220	107131220	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	92	4	.	.	ENST00000390632.2:c.161G>T	p.Ser54Ile	p.S54I	ENST00000390632		54	aGc/aTc	0	1	1	UPI000011AAC3	0		ENST00000390632		ENSG00000211972	5619		96			HGNC	p.S54I		IGHV3-66		SNV							ENST00000390632	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		S/I		A		240/427			tolerated_low_confidence(0.11)				YES	IGHV3-66,missense_variant,p.Ser54Ile,ENST00000390632,;IGHVII-65-1,upstream_gene_variant,,ENST00000519992,;							MODERATE	161/348					Transcript		benign(0.025)	.	ENSP00000375041					1	
PHLDA1	0	LGGM	GRCh37	12	76425344	76425344	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	4	4	.	.	ENST00000266671.5:c.178A>G	p.Arg60Gly	p.R60G	ENST00000266671		60	Aga/Gga	0	1	1	UPI000013D704	0	NA	ENST00000266671		ENSG00000139289	8933		8	0.69		HGNC	p.R60G		PHLDA1		SNV							ENST00000266671	protein_coding	getma.org/?cm=var&var=hg19,12,76425344,T,C&fts=all				R/G		C	neutral	2369/8069		getma.org/?cm=msa&ty=f&p=PHLA1_HUMAN&rb=1&re=399&var=R60G	tolerated_low_confidence(0.11)	R4GND3_HUMAN,A2BDE7_HUMAN			YES	PHLDA1,missense_variant,p.Arg60Gly,ENST00000266671,;PHLDA1,5_prime_UTR_variant,,ENST00000602540,NM_007350.3;RP11-290L1.3,downstream_gene_variant,,ENST00000552367,;RP11-290L1.2,upstream_gene_variant,,ENST00000547721,;							MODERATE	178/1206	R60G	PHLA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000266671		CCDS31861.1			1	
PAPSS2	0	LGGM	GRCh37	10	89472868	89472868	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	125	5	.	.	ENST00000456849.1:c.182C>T	p.Ala61Val	p.A61V	ENST00000456849	NM_001015880.1	61	gCc/gTc	0	1		UPI0000132103	0	getma.org/pdb.php?prot=PAPS2_HUMAN&from=41&to=199&var=A61V	ENST00000361175		ENSG00000198682	8604		130	3.11		HGNC	p.A61V		PAPSS2		SNV			1				ENST00000361175	protein_coding	getma.org/?cm=var&var=hg19,10,89472868,C,T&fts=all		HAMAP:MF_00065,hmmpanther:PTHR11055:SF16,hmmpanther:PTHR11055,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00455,Pfam_domain:PF01583,Superfamily_domains:SSF52540		A/V		T	medium	551/3949		getma.org/?cm=msa&ty=f&p=PAPS2_HUMAN&rb=41&re=199&var=A61V	deleterious(0.01)	Q5TB52_HUMAN				PAPSS2,missense_variant,p.Ala61Val,ENST00000361175,NM_004670.3;PAPSS2,missense_variant,p.Ala61Val,ENST00000456849,NM_001015880.1;PAPSS2,missense_variant,p.Ala65Val,ENST00000427144,;PAPSS2,non_coding_transcript_exon_variant,,ENST00000482258,;PAPSS2,non_coding_transcript_exon_variant,,ENST00000465996,;							MODERATE	182/1845	A61V	PAPS2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000354436		CCDS7385.1			1	
EPB41L4A	0	LGGM	GRCh37	5	111575420	111575420	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	22	5	.	.	ENST00000261486.5:c.902A>C	p.Glu301Ala	p.E301A	ENST00000261486	NM_022140.3	301	gAa/gCa	0	1	1	UPI000020C3F8	0	NA	ENST00000261486		ENSG00000129595	13278		27	1.355		HGNC	p.E301A		EPB41L4A		SNV							ENST00000261486	protein_coding	getma.org/?cm=var&var=hg19,5,111575420,T,G&fts=all		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF11,Superfamily_domains:SSF50729		E/A		G	low	1179/4707		getma.org/?cm=msa&ty=f&p=E41LA_HUMAN&rb=215&re=303&var=E301A	tolerated(0.3)	Q8NEH8_HUMAN			YES	EPB41L4A,missense_variant,p.Glu301Ala,ENST00000261486,NM_022140.3;RP11-526F3.1,intron_variant,,ENST00000504004,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000511790,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000511405,;							MODERATE	902/2061	E301A	E41LA_HUMAN			Transcript		benign(0.174)	.	ENSP00000261486		CCDS43350.1			1	
ADRA2B	0	LGGM	GRCh37	2	96781403	96781403	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	16	6	.	.	ENST00000409345.3:c.486C>T	p.Pro162=	p.P162=	ENST00000409345	NM_000682.5	162	ccC/ccT	0	1	1	UPI0000047181	0		ENST00000409345		ENSG00000222040	282		22			HGNC	p.P162P		ADRA2B		SNV							ENST00000409345	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF26,Superfamily_domains:SSF81321		P		A		582/3278				A2RUS0_HUMAN			YES	ADRA2B,synonymous_variant,p.=,ENST00000409345,NM_000682.5;							LOW	486/1344		ADA2B_HUMAN			Transcript			.	ENSP00000387281		CCDS56129.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	26	20	.	.	ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32Y	ENST00000349496	pathogenic	ENSG00000168036	2514		46	2.46		HGNC	p.D32Y	rs28931588,COSM5661	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/Y		T	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32Y	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Tyr,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32Y	CTNB1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000344456		CCDS2694.1			1	19635198
HMCN1	0	LGGM	GRCh37	1	186077631	186077631	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	111	9	.	.	ENST00000271588.4:c.10891A>G	p.Ile3631Val	p.I3631V	ENST00000271588	NM_031935.2	3631	Atc/Gtc	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3623&to=3709&var=I3631V	ENST00000271588		ENSG00000143341	19194		120	-0.63		HGNC	p.I3631V		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186077631,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726		I/V		G	neutral	11120/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3623&re=3709&var=I3631V					YES	HMCN1,missense_variant,p.Ile3631Val,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ile3631Val,ENST00000367492,;							MODERATE	10891/16908	I3631V	HMCN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000271588		CCDS30956.1			1	
ANGEL1	0	LGGM	GRCh37	14	77274357	77274357	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	27	10	.	.	ENST00000251089.2:c.784T>G	p.Ser262Ala	p.S262A	ENST00000251089	NM_015305.3	262	Tca/Gca	0	1	1	UPI0000139C7E	0	getma.org/pdb.php?prot=ANGE1_HUMAN&from=248&to=656&var=S262A	ENST00000251089		ENSG00000013523	19961		37	0.57		HGNC	p.S262A		ANGEL1		SNV							ENST00000251089	protein_coding	getma.org/?cm=var&var=hg19,14,77274357,A,C&fts=all		hmmpanther:PTHR12121,hmmpanther:PTHR12121:SF28,Pfam_domain:PF03372,Gene3D:3.60.10.10,Superfamily_domains:SSF56219		S/A		C	neutral	897/4109		getma.org/?cm=msa&ty=f&p=ANGE1_HUMAN&rb=248&re=656&var=S262A	tolerated(0.69)	G3V5C4_HUMAN			YES	ANGEL1,missense_variant,p.Ser262Ala,ENST00000251089,NM_015305.3;ANGEL1,upstream_gene_variant,,ENST00000557179,;ANGEL1,upstream_gene_variant,,ENST00000555079,;ANGEL1,downstream_gene_variant,,ENST00000554941,;ANGEL1,downstream_gene_variant,,ENST00000557497,;ANGEL1,downstream_gene_variant,,ENST00000556298,;							MODERATE	784/2013	S262A	ANGE1_HUMAN			Transcript		benign(0.005)	.	ENSP00000251089		CCDS9852.1			1	
MSLNL	0	LGGM	GRCh37	16	823140	823140	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	16	10	.	.	ENST00000293892.3:c.2128A>C	p.Lys710Gln	p.K710Q	ENST00000293892		710	Aag/Cag	0	1		UPI0001AE6819	0		ENST00000442466		ENSG00000162006	14170		26			HGNC	p.K710Q		MSLNL		SNV							ENST00000293892	protein_coding			Pfam_domain:PF06060,hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15		K/Q		G		1075/2109			deleterious(0)					MSLNL,missense_variant,p.Lys710Gln,ENST00000293892,;MSLNL,missense_variant,p.Lys409Gln,ENST00000543963,;MSLNL,missense_variant,p.Lys359Gln,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,;							MODERATE	1075/2109		MSLNL_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000415767					1	
FANCI	0	LGGM	GRCh37	15	89843554	89843554	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	34	11	.	.	ENST00000310775.7:c.2827G>T	p.Glu943Ter	p.E943*	ENST00000310775	NM_001113378.1	943	Gag/Tag	0	1	1	UPI00001FEB1D	0	NA	ENST00000310775		ENSG00000140525	25568		45	0		HGNC	p.E943X		FANCI		SNV			1				ENST00000310775	protein_coding	getma.org/?cm=var&var=hg19,15,89843554,G,T&fts=all		Pfam_domain:PF14677,hmmpanther:PTHR21818,hmmpanther:PTHR21818:SF0		E/*		T	NA	2913/4743		NA		H3BT54_HUMAN,H3BS60_HUMAN,H3BQE2_HUMAN			YES	FANCI,stop_gained,p.Glu943Ter,ENST00000310775,NM_001113378.1;FANCI,stop_gained,p.Glu883Ter,ENST00000300027,NM_018193.2;FANCI,stop_gained,p.Glu710Ter,ENST00000561894,;FANCI,intron_variant,,ENST00000565522,;FANCI,stop_gained,p.Glu883Ter,ENST00000447611,;FANCI,non_coding_transcript_exon_variant,,ENST00000566895,;							HIGH	2827/3987	E943*	FANCI_HUMAN			Transcript			.	ENSP00000310842		CCDS45346.1			1	
NFATC1	0	LGGM	GRCh37	18	77227543	77227543	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	6	12	.	.	ENST00000329101.4:c.2014C>T	p.Arg672Ter	p.R672*	ENST00000329101	NM_172387.2	672	Cga/Tga	0	1		UPI000012FFB5	0	NA	ENST00000427363		ENSG00000131196	7775		18	0		HGNC	p.R213X	COSM3403672,COSM3403673	NFATC1		SNV						1,1	ENST00000397790	protein_coding	getma.org/?cm=var&var=hg19,18,77227543,C,T&fts=all		hmmpanther:PTHR12533:SF5,hmmpanther:PTHR12533,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296,Prints_domain:PR01789		R/*		T	NA	2053/2832		NA		F5H4S8_HUMAN				NFATC1,stop_gained,p.Arg685Ter,ENST00000253506,NM_006162.4,NM_001278670.1,NM_001278669.1;NFATC1,stop_gained,p.Arg672Ter,ENST00000329101,NM_172387.2;NFATC1,stop_gained,p.Arg672Ter,ENST00000318065,NM_001278672.1,NM_172389.2;NFATC1,stop_gained,p.Arg213Ter,ENST00000397790,NM_172388.2;NFATC1,stop_gained,p.Arg685Ter,ENST00000427363,;NFATC1,stop_gained,p.Arg685Ter,ENST00000591814,NM_172390.2;NFATC1,stop_gained,p.Arg672Ter,ENST00000592223,NM_001278675.1;NFATC1,stop_gained,p.Arg685Ter,ENST00000542384,;NFATC1,stop_gained,p.Arg672Ter,ENST00000586434,;NFATC1,stop_gained,p.Arg213Ter,ENST00000545796,NM_001278673.1;NFATC1,3_prime_UTR_variant,,ENST00000587635,;NFATC1,3_prime_UTR_variant,,ENST00000590313,;					1,1		HIGH	2053/2832	R685*	NFAC1_HUMAN			Transcript			.	ENSP00000389377		CCDS62467.1			1	
TRIM71	0	LGGM	GRCh37	3	32932218	32932218	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	21	12	.	.	ENST00000383763.5:c.1522A>G	p.Ile508Val	p.I508V	ENST00000383763	NM_001039111.1	508	Att/Gtt	0	1	1	UPI000067CB89	0	getma.org/pdb.php?prot=LIN41_HUMAN&from=482&to=577&var=I508V	ENST00000383763		ENSG00000206557	32669		33	-0.315		HGNC	p.I508V		TRIM71		SNV							ENST00000383763	protein_coding	getma.org/?cm=var&var=hg19,3,32932218,A,G&fts=all		Superfamily_domains:SSF81296,SMART_domains:SM00557,Gene3D:2.60.40.10,Pfam_domain:PF00630,hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103,PROSITE_profiles:PS50194		I/V		G	neutral	1585/8685		getma.org/?cm=msa&ty=f&p=LIN41_HUMAN&rb=482&re=577&var=I508V	tolerated(0.82)				YES	TRIM71,missense_variant,p.Ile508Val,ENST00000383763,NM_001039111.1;							MODERATE	1522/2607	I508V	LIN41_HUMAN			Transcript		benign(0.007)	.	ENSP00000373272		CCDS43060.1			1	
ZC3H18	0	LGGM	GRCh37	16	88644109	88644109	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	36	13	.	.	ENST00000301011.5:c.578G>T	p.Gly193Val	p.G193V	ENST00000301011	NM_144604.3	193	gGa/gTa	0	1	1	UPI00001FF676	0	NA	ENST00000301011		ENSG00000158545	25091		49	1.955		HGNC	p.G193V		ZC3H18		SNV							ENST00000452588	protein_coding	getma.org/?cm=var&var=hg19,16,88644109,G,T&fts=all		hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10,Low_complexity_(Seg):seg		G/V		T	medium	778/3729		getma.org/?cm=msa&ty=f&p=ZCH18_HUMAN&rb=1&re=951&var=G193V	deleterious_low_confidence(0)	H3BRH3_HUMAN,B3KRL4_HUMAN			YES	ZC3H18,missense_variant,p.Gly193Val,ENST00000301011,NM_144604.3;ZC3H18,missense_variant,p.Gly193Val,ENST00000452588,;ZC3H18,intron_variant,,ENST00000569435,;							MODERATE	578/2862	G193V	ZCH18_HUMAN			Transcript		unknown(0)	.	ENSP00000301011		CCDS10967.1			1	
CRTAM	0	LGGM	GRCh37	11	122735354	122735354	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	11	13	.	.	ENST00000227348.4:c.744G>A	p.Thr248=	p.T248=	ENST00000227348	NM_019604.2	248	acG/acA	0	1	1	UPI000013C8B4	0		ENST00000227348		ENSG00000109943	24313		24			HGNC	p.T49T	rs758421961,COSM924114	CRTAM	0.000306	SNV				9.67E-05		0,1	ENST00000533709	protein_coding			hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF48,Low_complexity_(Seg):seg		T		A		791/2469	3.04E-05						YES	CRTAM,synonymous_variant,p.=,ENST00000227348,NM_019604.2;CRTAM,synonymous_variant,p.=,ENST00000533709,;CRTAM,non_coding_transcript_exon_variant,,ENST00000533416,;					0,1		LOW	744/1182		CRTAM_HUMAN			Transcript			.	ENSP00000227348	6.59E-05	CCDS8437.1			1	
MGAT4B	0	LGGM	GRCh37	5	179227941	179227941	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	20	14	.	.	ENST00000337755.5:c.616T>C	p.Tyr206His	p.Y206H	ENST00000337755	NM_054013.3	206	Tac/Cac	0	1		UPI000006FDB8	0	NA	ENST00000292591		ENSG00000161013	7048		34	2.5		HGNC	p.Y46H		MGAT4B		SNV							ENST00000523108	protein_coding	getma.org/?cm=var&var=hg19,5,179227941,A,G&fts=all		Pfam_domain:PF04666,hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF1		Y/H		G	medium	922/2446		getma.org/?cm=msa&ty=f&p=MGT4B_HUMAN&rb=86&re=387&var=Y191H	deleterious(0.04)	E5RFS3_HUMAN				MGAT4B,missense_variant,p.Tyr206His,ENST00000337755,NM_054013.3;MGAT4B,missense_variant,p.Tyr191His,ENST00000292591,NM_014275.4;MGAT4B,missense_variant,p.Tyr139His,ENST00000519836,;MGAT4B,missense_variant,p.Tyr17His,ENST00000518778,;MGAT4B,missense_variant,p.Tyr46His,ENST00000523108,;MGAT4B,missense_variant,p.Tyr3His,ENST00000518867,;MGAT4B,upstream_gene_variant,,ENST00000520969,;MGAT4B,upstream_gene_variant,,ENST00000518980,;MGAT4B,upstream_gene_variant,,ENST00000520875,;LTC4S,downstream_gene_variant,,ENST00000292596,NM_145867.1;LTC4S,downstream_gene_variant,,ENST00000401985,;MIR1229,upstream_gene_variant,,ENST00000408467,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000521305,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000523382,;MAML1,downstream_gene_variant,,ENST00000503050,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,upstream_gene_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000520134,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,downstream_gene_variant,,ENST00000519616,;MGAT4B,3_prime_UTR_variant,,ENST00000520918,;MGAT4B,3_prime_UTR_variant,,ENST00000523329,;MGAT4B,non_coding_transcript_exon_variant,,ENST00000518702,;MGAT4B,downstream_gene_variant,,ENST00000518168,;LTC4S,downstream_gene_variant,,ENST00000465572,;MGAT4B,upstream_gene_variant,,ENST00000520822,;MGAT4B,upstream_gene_variant,,ENST00000521855,;MGAT4B,upstream_gene_variant,,ENST00000522451,;LTC4S,downstream_gene_variant,,ENST00000505170,;LTC4S,downstream_gene_variant,,ENST00000466071,;LTC4S,downstream_gene_variant,,ENST00000509898,;LTC4S,downstream_gene_variant,,ENST00000486713,;LTC4S,downstream_gene_variant,,ENST00000510544,;							MODERATE	571/1647	Y191H	MGT4B_HUMAN			Transcript		benign(0.414)	.	ENSP00000292591		CCDS4448.1			1	
ZNF705A	0	LGGM	GRCh37	12	8330007	8330007	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	90	14	.	.	ENST00000359286.4:c.731G>A	p.Arg244Gln	p.R244Q	ENST00000359286	NM_001004328.2	244	cGa/cAa	0	1	1	UPI000035E780	0	getma.org/pdb.php?prot=Z705A_HUMAN&from=240&to=273&var=R244Q	ENST00000359286		ENSG00000196946	32281		104	0.505		HGNC	p.R244Q	rs779827836,COSM224789	ZNF705A		SNV				0.000112		0,1	ENST00000359286	protein_coding	getma.org/?cm=var&var=hg19,12,8330007,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF18,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/Q		A	neutral	820/3455	3.11E-05	getma.org/?cm=msa&ty=f&p=Z705A_HUMAN&rb=240&re=273&var=R244Q	tolerated(0.08)	J3KPU9_HUMAN,B5MCH6_HUMAN			YES	ZNF705A,missense_variant,p.Arg244Gln,ENST00000359286,NM_001004328.2,NM_001278713.1;ZNF705A,intron_variant,,ENST00000398526,;ZNF705A,downstream_gene_variant,,ENST00000396570,;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,;					0,1		MODERATE	731/903	R244Q	Z705A_HUMAN			Transcript		benign(0.002)	.	ENSP00000352233	2.49E-05	CCDS31737.1			1	
ERLEC1	0	LGGM	GRCh37	2	54028910	54028910	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	34	15	.	.	ENST00000185150.4:c.810G>T	p.Lys270Asn	p.K270N	ENST00000185150	NM_015701.4	270	aaG/aaT	0	1	1	UPI00000373C1	0		ENST00000185150		ENSG00000068912	25222		49			HGNC	p.K270N		ERLEC1		SNV							ENST00000405123	protein_coding			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0		K/N		T		941/2433			tolerated(0.08)				YES	ERLEC1,missense_variant,p.Lys270Asn,ENST00000185150,NM_015701.4;ERLEC1,missense_variant,p.Lys270Asn,ENST00000378239,NM_001127398.2;ERLEC1,missense_variant,p.Lys270Asn,ENST00000405123,NM_001127397.2;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;							MODERATE	810/1452		ERLEC_HUMAN			Transcript		benign(0.175)	.	ENSP00000185150		CCDS1848.1			1	
TXNDC16	0	LGGM	GRCh37	14	52899233	52899233	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	29	15	.	.	ENST00000281741.4:c.2267del	p.Thr756AsnfsTer13	p.T756Nfs*13	ENST00000281741	NM_020784.2	756	aCa/aa	0	1	1	UPI000059D245	0		ENST00000281741		ENSG00000087301	19965		44			HGNC	p.T756fs		TXNDC16		deletion							ENST00000281741	protein_coding			hmmpanther:PTHR22699,hmmpanther:PTHR22699:SF1		T/X		-		2639/4564				G3V2S5_HUMAN,B7ZME4_HUMAN			YES	TXNDC16,frameshift_variant,p.Thr756AsnfsTer13,ENST00000281741,NM_020784.2,NM_001160047.1;							HIGH	2267/2478		TXD16_HUMAN			Transcript			.	ENSP00000281741		CCDS32083.1			1	
CREBBP	0	LGGM	GRCh37	16	3777727	3777727	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	55	16	.	.	ENST00000262367.5:c.7321G>T	p.Gly2441Cys	p.G2441C	ENST00000262367	NM_004380.2	2441	Ggc/Tgc	0	1	1	UPI0000000620	0	NA	ENST00000262367		ENSG00000005339	2348		71	1.39		HGNC	p.G2403C		CREBBP		SNV			1				ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3777727,C,A&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		G/C		A	low	8131/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=2385&re=2442&var=G2441C		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			YES	CREBBP,missense_variant,p.Gly2441Cys,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Gly2403Cys,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000576720,;CREBBP,downstream_gene_variant,,ENST00000571763,;							MODERATE	7321/7329	G2441C	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
FBN3	0	LGGM	GRCh37	19	8174250	8174250	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	22	18	.	.	ENST00000600128.1:c.4479C>A	p.Phe1493Leu	p.F1493L	ENST00000600128		1493	ttC/ttA	0	1		UPI000013D88F	0	getma.org/pdb.php?prot=FBN3_HUMAN&from=1490&to=1546&var=F1493L	ENST00000270509		ENSG00000142449	18794		40	2.625		HGNC	p.F1493L		FBN3		SNV							ENST00000600128	protein_coding	getma.org/?cm=var&var=hg19,19,8174250,G,T&fts=all		PROSITE_profiles:PS51364,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57581		F/L		T	medium	4765/9232		getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1490&re=1546&var=F1493L	deleterious(0)					FBN3,missense_variant,p.Phe1493Leu,ENST00000600128,;FBN3,missense_variant,p.Phe1493Leu,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Phe1493Leu,ENST00000601739,;FBN3,downstream_gene_variant,,ENST00000594331,;							MODERATE	4479/8430	F1493L	FBN3_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000270509		CCDS12196.1			1	
PCDHA2	0	LGGM	GRCh37	5	140176178	140176178	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	28	18	.	.	ENST00000526136.1:c.1629G>A	p.Pro543=	p.P543=	ENST00000526136	NM_018905.2	543	ccG/ccA	0	1	1	UPI00001273C9	0		ENST00000526136		ENSG00000204969	8668		46			HGNC	p.P543P	rs782688537	PCDHA2		SNV							ENST00000520672	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313		P		A		1629/5254							YES	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;	0.000118						LOW	1629/2847		PCDA2_HUMAN			Transcript			.	ENSP00000431748	8.26E-06	CCDS54914.1			1	
OSBPL9	0	LGGM	GRCh37	1	52214071	52214071	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	12	19	.	.	ENST00000447887.1:c.561+1G>A		p.X187_splice	ENST00000447887				0	1		UPI0000130E9A	0		ENST00000428468		ENSG00000117859	16386		31			HGNC	-		OSBPL9		SNV							ENST00000371714	protein_coding							A		-/2893				Q9BRN2_HUMAN,E9PLH0_HUMAN,B3KW33_HUMAN				OSBPL9,splice_donor_variant,,ENST00000371710,NM_024586.5,NM_148906.2;OSBPL9,splice_donor_variant,,ENST00000337809,NM_148908.3,NM_148909.3;OSBPL9,splice_donor_variant,,ENST00000371714,;OSBPL9,splice_donor_variant,,ENST00000447887,;OSBPL9,splice_donor_variant,,ENST00000428468,;OSBPL9,splice_donor_variant,,ENST00000453295,;OSBPL9,splice_donor_variant,,ENST00000435686,;OSBPL9,splice_donor_variant,,ENST00000462759,NM_148904.3;OSBPL9,splice_donor_variant,,ENST00000361556,NM_148907.2;OSBPL9,splice_donor_variant,,ENST00000486942,NM_148905.3;OSBPL9,splice_donor_variant,,ENST00000530544,;OSBPL9,splice_donor_variant,,ENST00000531828,;OSBPL9,splice_donor_variant,,ENST00000481937,;OSBPL9,splice_donor_variant,,ENST00000532975,;OSBPL9,splice_donor_variant,,ENST00000527631,;OSBPL9,splice_donor_variant,,ENST00000473207,;OSBPL9,splice_donor_variant,,ENST00000524620,;OSBPL9,splice_donor_variant,,ENST00000495776,;OSBPL9,splice_donor_variant,,ENST00000435274,;OSBPL9,splice_donor_variant,,ENST00000489990,;OSBPL9,splice_donor_variant,,ENST00000526917,;OSBPL9,splice_donor_variant,,ENST00000484890,;OSBPL9,splice_donor_variant,,ENST00000533884,;OSBPL9,splice_donor_variant,,ENST00000534040,;OSBPL9,upstream_gene_variant,,ENST00000528603,;OSBPL9,downstream_gene_variant,,ENST00000467064,;							HIGH	492/2211		OSBL9_HUMAN			Transcript			.	ENSP00000407168		CCDS41332.3			1	
OXSM	0	LGGM	GRCh37	3	25833301	25833301	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	42	19	.	.	ENST00000280701.3:c.790T>A	p.Cys264Ser	p.C264S	ENST00000280701	NM_017897.2	264	Tgt/Agt	0	1	1	UPI000004713F	0	getma.org/pdb.php?prot=OXSM_HUMAN&from=41&to=291&var=C264S	ENST00000280701		ENSG00000151093	26063		61	-0.97		HGNC	p.C264S		OXSM		SNV							ENST00000280701	protein_coding	getma.org/?cm=var&var=hg19,3,25833301,T,A&fts=all		hmmpanther:PTHR11712,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR03150,Pfam_domain:PF00109,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901,Superfamily_domains:SSF53901		C/S		A	neutral	889/1519		getma.org/?cm=msa&ty=f&p=OXSM_HUMAN&rb=41&re=291&var=C264S	tolerated(1)	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN			YES	OXSM,missense_variant,p.Cys264Ser,ENST00000280701,NM_017897.2;OXSM,intron_variant,,ENST00000420173,NM_001145391.1;NGLY1,upstream_gene_variant,,ENST00000417874,NM_001145294.1;OXSM,downstream_gene_variant,,ENST00000452098,;OXSM,downstream_gene_variant,,ENST00000428266,;OXSM,non_coding_transcript_exon_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,3_prime_UTR_variant,,ENST00000448177,;							MODERATE	790/1380	C264S	OXSM_HUMAN			Transcript		benign(0.093)	.	ENSP00000280701		CCDS2643.1			1	
ZNF267	0	LGGM	GRCh37	16	31927220	31927220	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	26	21	.	.	ENST00000300870.10:c.1650T>C	p.Cys550=	p.C550=	ENST00000300870	NM_003414.5	550	tgT/tgC	0	1	1	UPI000045696F	0		ENST00000300870		ENSG00000185947	13060		47			HGNC	p.C550C		ZNF267		SNV							ENST00000300870	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF184,hmmpanther:PTHR24377,PROSITE_profiles:PS50157		C		C		1859/3307				H3BPW2_HUMAN			YES	ZNF267,synonymous_variant,p.=,ENST00000300870,NM_003414.5,NM_001265588.1;ZNF267,downstream_gene_variant,,ENST00000394846,;ZNF267,downstream_gene_variant,,ENST00000562971,;ZNF267,non_coding_transcript_exon_variant,,ENST00000575471,;ZNF267,downstream_gene_variant,,ENST00000566541,;ZNF267,downstream_gene_variant,,ENST00000561814,;							LOW	1650/2232		ZN267_HUMAN			Transcript			.	ENSP00000300870		CCDS32440.1			1	
KCNC1	0	LGGM	GRCh37	11	17793328	17793328	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	29	24	.	.	ENST00000265969.6:c.687T>C	p.Asn229=	p.N229=	ENST00000265969	NM_001112741.1	229	aaT/aaC	0	1		UPI00000557DB	0		ENST00000379472		ENSG00000129159	6233		53			HGNC	p.N229N		KCNC1		SNV			1				ENST00000265969	protein_coding			Gene3D:1.20.120.350,Prints_domain:PR01581,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF87,Superfamily_domains:SSF81324		N		C		717/6766								KCNC1,synonymous_variant,p.=,ENST00000379472,NM_004976.4;KCNC1,synonymous_variant,p.=,ENST00000265969,NM_001112741.1;KCNC1,upstream_gene_variant,,ENST00000525802,;							LOW	687/1536		KCNC1_HUMAN			Transcript			.	ENSP00000368785		CCDS7827.1			1	
ENAM	0	LGGM	GRCh37	4	71509397	71509397	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	61	26	.	.	ENST00000396073.3:c.2254G>A	p.Ala752Thr	p.A752T	ENST00000396073	NM_031889.2	752	Gct/Act	0	1	1	UPI000013CE60	0	NA	ENST00000396073		ENSG00000132464	3344		87	0		HGNC	p.A752T	rs769115693,COSM734818	ENAM	0.000606	SNV			1			0,1	ENST00000396073	protein_coding	getma.org/?cm=var&var=hg19,4,71509397,G,A&fts=all		Pfam_domain:PF15362,hmmpanther:PTHR16784,hmmpanther:PTHR16784:SF2		A/T		A	neutral	2535/5679	1.50E-05	getma.org/?cm=msa&ty=f&p=ENAM_HUMAN&rb=601&re=800&var=A752T	tolerated(0.06)	Q8NFB4_HUMAN			YES	ENAM,missense_variant,p.Ala752Thr,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,downstream_gene_variant,,ENST00000472597,;					0,1		MODERATE	2254/3429	A752T	ENAM_HUMAN			Transcript		benign(0.102)	common_variant	ENSP00000379383	9.06E-05	CCDS3544.2			1	
TRBV7-8	0	LGGM	GRCh37	7	142099575	142099575	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	36	26	.	.	ENST00000390359.3:c.227A>T	p.Lys76Ile	p.K76I	ENST00000390359		76	aAa/aTa	0	1	1	UPI00001140ED	0		ENST00000390359		ENSG00000229200	12242		62			HGNC	p.K76I		TRBV7-8		SNV							ENST00000390359	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF20,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		K/I		A		266/386			deleterious(0.03)	A0A5A1_HUMAN			YES	TRBV7-8,missense_variant,p.Lys76Ile,ENST00000390359,;TRBV6-9,downstream_gene_variant,,ENST00000390379,;							MODERATE	227/347					Transcript		possibly_damaging(0.678)	.	ENSP00000374882					1	
CSMD3	0	LGGM	GRCh37	8	113516065	113516065	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	55	26	.	.	ENST00000297405.5:c.5037G>C	p.Arg1679=	p.R1679=	ENST00000297405	NM_198123.1	1679	cgG/cgC	0	1	1	UPI00001E0584	0		ENST00000297405		ENSG00000164796	19291		81			HGNC	p.R1679R		CSMD3		SNV							ENST00000297405	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		R		G		5282/13212							YES	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000352409,;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;							LOW	5037/11124		CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
FRS2	0	LGGM	GRCh37	12	69968656	69968656	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	70	26	.	.	ENST00000299293.2:c.1448C>A	p.Ser483Ter	p.S483*	ENST00000299293	NM_001278353.1	483	tCa/tAa	0	1		UPI000003F143	0	NA	ENST00000397997		ENSG00000166225	16971		96	0		HGNC	p.S483X		FRS2		SNV							ENST00000397997	protein_coding	getma.org/?cm=var&var=hg19,12,69968656,C,A&fts=all		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF40		S/*		A	NA	1750/6653		NA		L7RTG7_HUMAN,F8VZI4_HUMAN,F8VZ12_HUMAN,F8VYZ7_HUMAN,F8VX65_HUMAN,F8VW66_HUMAN,F8VS98_HUMAN				FRS2,stop_gained,p.Ser483Ter,ENST00000299293,NM_001278353.1,NM_001278356.1,NM_006654.4,NM_001278351.1;FRS2,stop_gained,p.Ser483Ter,ENST00000397997,NM_001278355.1,NM_001042555.2,NM_001278354.1;FRS2,stop_gained,p.Ser483Ter,ENST00000550389,NM_001278357.1;FRS2,stop_gained,p.Ser483Ter,ENST00000549921,;FRS2,downstream_gene_variant,,ENST00000550937,;FRS2,downstream_gene_variant,,ENST00000551325,;FRS2,downstream_gene_variant,,ENST00000547219,;FRS2,downstream_gene_variant,,ENST00000548154,;FRS2,downstream_gene_variant,,ENST00000549092,;FRS2,downstream_gene_variant,,ENST00000547414,;							HIGH	1448/1527	S483*	FRS2_HUMAN			Transcript			.	ENSP00000381083		CCDS41809.1			1	
PCDH15	0	LGGM	GRCh37	10	55617012	55617012	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	50	26	.	.	ENST00000361849.3:c.3729C>T	p.Val1243=	p.V1243=	ENST00000361849	NM_001142768.1	1243	gtC/gtT	0	1		UPI000014083E	0		ENST00000320301		ENSG00000150275	14674		76			HGNC	p.V1172V		PCDH15		SNV			1				ENST00000437009	protein_coding			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		A		4124/6845				A2A3D9_HUMAN				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,intron_variant,,ENST00000414367,;							LOW	3729/5868		PCD15_HUMAN			Transcript			.	ENSP00000322604		CCDS7248.1			1	
ZNF594	0	LGGM	GRCh37	17	5086746	5086746	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	19	27	.	.	ENST00000399604.4:c.806G>A	p.Cys269Tyr	p.C269Y	ENST00000399604		269	tGt/tAt	0	1	1	UPI00001C1FDF	0	getma.org/pdb.php?prot=ZN594_HUMAN&from=253&to=278&var=C269Y	ENST00000399604		ENSG00000180626	29392		46	2.36		HGNC	p.C269Y		ZNF594		SNV							ENST00000399604	protein_coding	getma.org/?cm=var&var=hg19,17,5086746,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF127,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/Y		T	medium	947/4862		getma.org/?cm=msa&ty=f&p=ZN594_HUMAN&rb=233&re=298&var=C269Y	deleterious(0.01)	I3L508_HUMAN			YES	ZNF594,missense_variant,p.Cys269Tyr,ENST00000399604,;ZNF594,missense_variant,p.Cys269Tyr,ENST00000575779,NM_032530.1;ZNF594,downstream_gene_variant,,ENST00000576772,;							MODERATE	806/2424	C269Y	ZN594_HUMAN			Transcript		benign(0.168)	.	ENSP00000382513		CCDS42241.1			1	
AHCTF1	0	LGGM	GRCh37	1	247012958	247012958	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	116	28	.	.	ENST00000326225.3:c.6377C>T	p.Pro2126Leu	p.P2126L	ENST00000326225	NM_015446.4	2126	cCt/cTt	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		144	1.04		HGNC	p.P2152L		AHCTF1		SNV							ENST00000366508	protein_coding	getma.org/?cm=var&var=hg19,1,247012958,G,A&fts=all		hmmpanther:PTHR21583		P/L		A	low	6474/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=1052&re=2264&var=P2117L	tolerated(0.38)	C9J5C5_HUMAN			YES	AHCTF1,missense_variant,p.Pro2152Leu,ENST00000366508,;AHCTF1,missense_variant,p.Pro2126Leu,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Pro2117Leu,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,downstream_gene_variant,,ENST00000483900,;AHCTF1,missense_variant,p.Pro65Leu,ENST00000498601,;							MODERATE	6377/6828	P2117L	ELYS_HUMAN			Transcript		benign(0.117)	.	ENSP00000355465		CCDS1629.2			1	
ZFP30	0	LGGM	GRCh37	19	38125965	38125965	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	38	29	.	.	ENST00000351218.2:c.1477C>T	p.Pro493Ser	p.P493S	ENST00000351218	NM_014898.2	493	Cca/Tca	0	1	1	UPI0000139E7F	0	getma.org/pdb.php?prot=ZFP30_HUMAN&from=480&to=505&var=P493S	ENST00000351218		ENSG00000120784	29555		67	1.99		HGNC	p.P493S		ZFP30		SNV							ENST00000514101	protein_coding	getma.org/?cm=var&var=hg19,19,38125965,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246,Superfamily_domains:SSF57667		P/S		A	medium	2035/6090		getma.org/?cm=msa&ty=f&p=ZFP30_HUMAN&rb=460&re=519&var=P493S	tolerated(0.05)	K7EK76_HUMAN,D3Y2A0_HUMAN			YES	ZFP30,missense_variant,p.Pro493Ser,ENST00000351218,NM_014898.2;ZFP30,missense_variant,p.Pro493Ser,ENST00000514101,;ZFP30,missense_variant,p.Pro493Ser,ENST00000392144,;ZFP30,intron_variant,,ENST00000589018,;ZFP30,downstream_gene_variant,,ENST00000587809,;							MODERATE	1477/1560	P493S	ZFP30_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343581		CCDS33005.1			1	
CASP1	0	LGGM	GRCh37	11	104900498	104900498	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	53	33	.	.	ENST00000533400.1:c.756C>G	p.Val252=	p.V252=	ENST00000533400	NM_001257118.1	252	gtC/gtG	0	1		UPI000003AEF8	0		ENST00000436863		ENSG00000137752	1499		86			HGNC	p.V252V		CASP1		SNV							ENST00000533400	protein_coding			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		V		C		893/1477								CASP1,synonymous_variant,p.=,ENST00000533400,NM_001257118.1;CASP1,synonymous_variant,p.=,ENST00000527979,;CASP1,synonymous_variant,p.=,ENST00000436863,NM_033292.3;CASP1,synonymous_variant,p.=,ENST00000528974,;CASP1,synonymous_variant,p.=,ENST00000598974,;CASP1,synonymous_variant,p.=,ENST00000593315,;CASP1,synonymous_variant,p.=,ENST00000393136,NM_001223.4;CASP1,synonymous_variant,p.=,ENST00000525825,NM_001257119.1;CASP1,synonymous_variant,p.=,ENST00000526568,NM_033293.3;CASP1,synonymous_variant,p.=,ENST00000594519,;CASP1,synonymous_variant,p.=,ENST00000446369,NM_033294.3;CASP1,synonymous_variant,p.=,ENST00000534497,;CASP1,synonymous_variant,p.=,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,;							LOW	756/1215		CASP1_HUMAN			Transcript			.	ENSP00000410076		CCDS8330.1			1	
UNC80	0	LGGM	GRCh37	2	210705342	210705342	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	75	34	.	.	ENST00000439458.1:c.3333C>T	p.Asp1111=	p.D1111=	ENST00000439458	NM_032504.1	1111	gaC/gaT	0	1	1	UPI00017E10C9	0		ENST00000439458		ENSG00000144406	26582		109			HGNC	p.D1106D		UNC80		SNV							ENST00000272845	protein_coding			hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		D		T		3413/13562							YES	UNC80,synonymous_variant,p.=,ENST00000439458,NM_032504.1;UNC80,synonymous_variant,p.=,ENST00000272845,NM_182587.3;UNC80,upstream_gene_variant,,ENST00000477301,;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;							LOW	3333/9777		UNC80_HUMAN			Transcript			.	ENSP00000391088		CCDS46504.1			1	
KIF6	0	LGGM	GRCh37	6	39563915	39563915	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	45	36	.	.	ENST00000287152.7:c.761C>T	p.Ser254Leu	p.S254L	ENST00000287152	NM_145027.4	254	tCa/tTa	0	1	1	UPI0000457436	0	getma.org/pdb.php?prot=KIF6_HUMAN&from=11&to=345&var=S254L	ENST00000287152		ENSG00000164627	21202		81	4.395		HGNC	p.S254L		KIF6		SNV							ENST00000373215	protein_coding	getma.org/?cm=var&var=hg19,6,39563915,G,A&fts=all		Prints_domain:PR00380,Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_patterns:PS00411,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115,PROSITE_profiles:PS50067		S/L		A	high	856/9082		getma.org/?cm=msa&ty=f&p=KIF6_HUMAN&rb=11&re=345&var=S254L	deleterious(0)				YES	KIF6,missense_variant,p.Ser254Leu,ENST00000287152,NM_145027.4;KIF6,missense_variant,p.Ser146Leu,ENST00000458470,;KIF6,missense_variant,p.Ser254Leu,ENST00000373216,;KIF6,missense_variant,p.Ser93Leu,ENST00000373213,;KIF6,missense_variant,p.Ser254Leu,ENST00000373215,;KIF6,missense_variant,p.Ser254Leu,ENST00000538893,;KIF6,missense_variant,p.Ser41Leu,ENST00000441975,;							MODERATE	761/2445	S254L	KIF6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000287152		CCDS4844.1			1	
MUC16	0	LGGM	GRCh37	19	9090354	9090354	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	84	37	.	.	ENST00000397910.4:c.1461C>T	p.Gly487=	p.G487=	ENST00000397910	NM_024690.2	487	ggC/ggT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		121			HGNC	p.G487G	rs368713762	MUC16		SNV	A:0.0002			0.000204			ENST00000397910	protein_coding			Low_complexity_(Seg):seg		G	A:0	A		1665/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	1461/43524					Transcript			.	ENSP00000381008	1.65E-05	CCDS54212.1			1	
CREB3	0	LGGM	GRCh37	9	35735185	35735185	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	29	37	.	.	ENST00000353704.2:c.515A>T	p.Lys172Met	p.K172M	ENST00000353704	NM_006368.4	172	aAg/aTg	0	1	1	UPI0000073728	0	getma.org/pdb.php?prot=CREB3_HUMAN&from=172&to=241&var=K196M	ENST00000353704		ENSG00000107175	2347		66	3.54		HGNC	p.K172M	rs749213751	CREB3		SNV							ENST00000353704	protein_coding	getma.org/?cm=var&var=hg19,9,35735185,A,T&fts=all		PROSITE_profiles:PS50217,hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF100,Gene3D:1.20.5.170,Pfam_domain:PF00170,SMART_domains:SM00338,Superfamily_domains:SSF57959		K/M		T	high	953/1832	1.50E-05	getma.org/?cm=msa&ty=f&p=CREB3_HUMAN&rb=172&re=241&var=K196M	deleterious(0)	B4DSK1_HUMAN			YES	CREB3,missense_variant,p.Lys172Met,ENST00000353704,NM_006368.4;TLN1,upstream_gene_variant,,ENST00000314888,NM_006289.3;TLN1,upstream_gene_variant,,ENST00000540444,;GBA2,downstream_gene_variant,,ENST00000378094,;GBA2,downstream_gene_variant,,ENST00000378103,NM_020944.2;GBA2,downstream_gene_variant,,ENST00000545786,;GBA2,downstream_gene_variant,,ENST00000378088,;CREB3,non_coding_transcript_exon_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000467252,;GBA2,downstream_gene_variant,,ENST00000486797,;GBA2,downstream_gene_variant,,ENST00000488292,;TLN1,upstream_gene_variant,,ENST00000378192,;							MODERATE	515/1116	K196M	CREB3_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000342136	8.24E-06	CCDS6588.1			1	
CREB3	0	LGGM	GRCh37	9	35735184	35735184	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	29	39	.	.	ENST00000353704.2:c.514A>G	p.Lys172Glu	p.K172E	ENST00000353704	NM_006368.4	172	Aag/Gag	0	1	1	UPI0000073728	0	getma.org/pdb.php?prot=CREB3_HUMAN&from=172&to=241&var=K196E	ENST00000353704		ENSG00000107175	2347	8.64E-05	68	3.54		HGNC	p.K172E	rs367884085	CREB3		SNV	G:0						ENST00000353704	protein_coding	getma.org/?cm=var&var=hg19,9,35735184,A,G&fts=all		PROSITE_profiles:PS50217,hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF100,Gene3D:1.20.5.170,Pfam_domain:PF00170,SMART_domains:SM00338,Superfamily_domains:SSF57959		K/E	G:0.0003	G	high	952/1832	0.000315	getma.org/?cm=msa&ty=f&p=CREB3_HUMAN&rb=172&re=241&var=K196E	deleterious(0)	B4DSK1_HUMAN			YES	CREB3,missense_variant,p.Lys172Glu,ENST00000353704,NM_006368.4;TLN1,upstream_gene_variant,,ENST00000314888,NM_006289.3;TLN1,upstream_gene_variant,,ENST00000540444,;GBA2,downstream_gene_variant,,ENST00000378094,;GBA2,downstream_gene_variant,,ENST00000378103,NM_020944.2;GBA2,downstream_gene_variant,,ENST00000545786,;GBA2,downstream_gene_variant,,ENST00000378088,;CREB3,non_coding_transcript_exon_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000467252,;GBA2,downstream_gene_variant,,ENST00000486797,;GBA2,downstream_gene_variant,,ENST00000488292,;TLN1,upstream_gene_variant,,ENST00000378192,;							MODERATE	514/1116	K196E	CREB3_HUMAN			Transcript		possibly_damaging(0.731)	.	ENSP00000342136	0.000181	CCDS6588.1			1	
MED20	0	LGGM	GRCh37	6	41877077	41877077	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	47	40	.	.	ENST00000265350.4:c.353A>T	p.Gln118Leu	p.Q118L	ENST00000265350	NM_004275.3	118	cAg/cTg	0	1	1	UPI0000073C85	0	NA	ENST00000265350		ENSG00000124641	16840		87	1.78		HGNC	p.Q110L		MED20		SNV							ENST00000394251	protein_coding	getma.org/?cm=var&var=hg19,6,41877077,T,A&fts=all		hmmpanther:PTHR12465,hmmpanther:PTHR12465:SF0,Pfam_domain:PF08612		Q/L		A	low	434/2438		getma.org/?cm=msa&ty=f&p=MED20_HUMAN&rb=1&re=198&var=Q118L	deleterious(0.03)	B3KUJ9_HUMAN,A6PVP4_HUMAN			YES	MED20,missense_variant,p.Gln118Leu,ENST00000265350,NM_004275.3;MED20,missense_variant,p.Gln118Leu,ENST00000409060,;MED20,missense_variant,p.Gln110Leu,ENST00000394251,;MED20,splice_region_variant,,ENST00000409312,;MED20,non_coding_transcript_exon_variant,,ENST00000467535,;MED20,non_coding_transcript_exon_variant,,ENST00000482361,;							MODERATE	353/639	Q118L	MED20_HUMAN			Transcript		benign(0.007)	.	ENSP00000265350		CCDS4862.1			1	
C1orf87	0	LGGM	GRCh37	1	60456507	60456507	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	35	41	.	.	ENST00000371201.3:c.1481-2A>T		p.X494_splice	ENST00000371201	NM_152377.2			0	1	1	UPI000006E066	0		ENST00000371201		ENSG00000162598	28547		76			HGNC	-		C1orf87		SNV							ENST00000371201	protein_coding							A		-/2028							YES	C1orf87,splice_acceptor_variant,,ENST00000371201,NM_152377.2;C1orf87,splice_acceptor_variant,,ENST00000450089,;C1orf87,splice_acceptor_variant,,ENST00000395552,;C1orf87,splice_acceptor_variant,,ENST00000486478,;C1orf87,splice_acceptor_variant,,ENST00000488027,;C1orf87,splice_acceptor_variant,,ENST00000491817,;							HIGH	1481/1641		CA087_HUMAN			Transcript			.	ENSP00000360244		CCDS614.1			1	
ZNF781	0	LGGM	GRCh37	19	38160944	38160944	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	74	46	.	.	ENST00000358582.4:c.106C>G	p.Gln36Glu	p.Q36E	ENST00000358582	NM_152605.3	36	Cag/Gag	0	1	1	UPI0000351D6C	0	getma.org/pdb.php?prot=ZN781_HUMAN&from=20&to=44&var=Q36E	ENST00000358582		ENSG00000196381	26745		120	-0.295		HGNC	p.Q36E		ZNF781		SNV							ENST00000358582	protein_coding	getma.org/?cm=var&var=hg19,19,38160944,G,C&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,hmmpanther:PTHR24409:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/E		C	neutral	855/3147		getma.org/?cm=msa&ty=f&p=ZN781_HUMAN&rb=1&re=64&var=Q36E	tolerated(0.45)				YES	ZNF781,missense_variant,p.Gln36Glu,ENST00000358582,NM_152605.3;ZNF781,missense_variant,p.Gln36Glu,ENST00000590008,;ZFP30,intron_variant,,ENST00000587199,;ZFP30,intron_variant,,ENST00000586732,;ZFP30,intron_variant,,ENST00000589676,;ZNF781,downstream_gene_variant,,ENST00000593040,;							MODERATE	106/984	Q36E	ZN781_HUMAN			Transcript		benign(0.341)	.	ENSP00000351391		CCDS12507.1			1	
PLCD4	0	LGGM	GRCh37	2	219487490	219487490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	94	49	.	.	ENST00000450993.2:c.661A>G	p.Lys221Glu	p.K221E	ENST00000450993	NM_032726.3	221	Aag/Gag	0	1		UPI0000044279	0	getma.org/pdb.php?prot=PLCD4_HUMAN&from=207&to=289&var=K221E	ENST00000417849		ENSG00000115556	9062		143	2.39		HGNC	p.K221E		PLCD4		SNV							ENST00000432688	protein_coding	getma.org/?cm=var&var=hg19,2,219487490,A,G&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF09279,PROSITE_profiles:PS50222,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF31,Low_complexity_(Seg):seg,SMART_domains:SM00054,Superfamily_domains:SSF47473		K/E		G	medium	846/2738		getma.org/?cm=msa&ty=f&p=PLCD4_HUMAN&rb=207&re=289&var=K221E	tolerated(0.42)	C9JAE4_HUMAN				PLCD4,missense_variant,p.Lys221Glu,ENST00000450993,NM_032726.3;PLCD4,missense_variant,p.Lys221Glu,ENST00000432688,;PLCD4,missense_variant,p.Lys221Glu,ENST00000417849,;PLCD4,downstream_gene_variant,,ENST00000415854,;U3,downstream_gene_variant,,ENST00000516996,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,non_coding_transcript_exon_variant,,ENST00000483685,;PLCD4,non_coding_transcript_exon_variant,,ENST00000469493,;PLCD4,intron_variant,,ENST00000465713,;PLCD4,downstream_gene_variant,,ENST00000444453,;PLCD4,downstream_gene_variant,,ENST00000446503,;							MODERATE	661/2289	K221E	PLCD4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000396942		CCDS46516.1			1	
DNA2	0	LGGM	GRCh37	10	70176537	70176537	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072932	H072932N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	92	52	.	.	ENST00000399180.2:c.3301G>A	p.Gly1101Arg	p.G1101R	ENST00000399180		1101	Ggg/Agg	0	1		UPI00001C1EDB	0	getma.org/pdb.php?prot=DNA2L_HUMAN&from=805&to=1018&var=G1015R	ENST00000358410		ENSG00000138346	2939		144	4.495		HGNC	p.G777R		DNA2		SNV			1				ENST00000551118	protein_coding	getma.org/?cm=var&var=hg19,10,70176537,C,T&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887:SF339,hmmpanther:PTHR10887		G/R		T	high	3094/4208		getma.org/?cm=msa&ty=f&p=DNA2L_HUMAN&rb=805&re=1018&var=G1015R	deleterious(0)					DNA2,missense_variant,p.Gly1101Arg,ENST00000399180,;DNA2,missense_variant,p.Gly1015Arg,ENST00000358410,NM_001080449.2;DNA2,missense_variant,p.Gly777Arg,ENST00000399179,;DNA2,missense_variant,p.Gly777Arg,ENST00000551118,;DNA2,missense_variant,p.Gly337Arg,ENST00000440722,;DNA2,non_coding_transcript_exon_variant,,ENST00000550545,;							MODERATE	3043/3183	G1015R	DNA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351185					1	
RAVER2	0	LGGM	GRCh37	1	65243491	65243491	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072932	H072932N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	170	60	.	.	ENST00000371072.4:c.502A>C	p.Ile168Leu	p.I168L	ENST00000371072	NM_018211.3	168	Att/Ctt	0	1		UPI000050AAAF	0	getma.org/pdb.php?prot=RAVR2_HUMAN&from=144&to=213&var=I168L	ENST00000294428		ENSG00000162437	25577		230	1.12		HGNC	p.I168L		RAVER2		SNV							ENST00000294428	protein_coding	getma.org/?cm=var&var=hg19,1,65243491,A,C&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF6,SMART_domains:SM00360,Superfamily_domains:SSF54928		I/L		C	low	580/4398		getma.org/?cm=msa&ty=f&p=RAVR2_HUMAN&rb=144&re=213&var=I168L	tolerated(1)					RAVER2,missense_variant,p.Ile168Leu,ENST00000294428,;RAVER2,missense_variant,p.Ile168Leu,ENST00000371072,NM_018211.3;RAVER2,upstream_gene_variant,,ENST00000430964,;RAVER2,upstream_gene_variant,,ENST00000418058,;							MODERATE	502/2076	I168L	RAVR2_HUMAN			Transcript		benign(0.394)	.	ENSP00000294428					1	
PRICKLE2	0	LGGM	GRCh37	3	64148708	64148708	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072932	H072932N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	138	87	.	.	ENST00000295902.6:c.242C>A	p.Pro81Gln	p.P81Q	ENST00000295902	NM_198859.3	81	cCg/cAg	0	1	1	UPI0000160A8B	0	NA	ENST00000295902		ENSG00000163637	20340		225	3.74		HGNC	p.P81Q		PRICKLE2		SNV			1				ENST00000498162	protein_coding	getma.org/?cm=var&var=hg19,3,64148708,G,T&fts=all		Pfam_domain:PF06297,PROSITE_profiles:PS51303,hmmpanther:PTHR24218,hmmpanther:PTHR24218:SF5		P/Q		T	high	828/8305		getma.org/?cm=msa&ty=f&p=PRIC2_HUMAN&rb=17&re=122&var=P81Q	deleterious(0)	C9JY03_HUMAN			YES	PRICKLE2,missense_variant,p.Pro81Gln,ENST00000295902,NM_198859.3;PRICKLE2,missense_variant,p.Pro137Gln,ENST00000564377,;PRICKLE2,missense_variant,p.Pro81Gln,ENST00000498162,;							MODERATE	242/2535	P81Q	PRIC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295902		CCDS2902.1			1	
PLXNC1	0	LGGM	GRCh37	12	94603442	94603442	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072932	H072932N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072932N.bam, H072932T.bam	Illumina HiSeq	148	88	.	.	ENST00000258526.4:c.1516T>C	p.Cys506Arg	p.C506R	ENST00000258526	NM_005761.2	506	Tgc/Cgc	0	1	1	UPI0000038AF4	0	getma.org/pdb.php?prot=PLXC1_HUMAN&from=454&to=507&var=C506R	ENST00000258526		ENSG00000136040	9106		236	3.25		HGNC	p.C506R		PLXNC1		SNV							ENST00000258526	protein_coding	getma.org/?cm=var&var=hg19,12,94603442,T,C&fts=all		hmmpanther:PTHR22625:SF4,hmmpanther:PTHR22625,Pfam_domain:PF01437,Gene3D:3.30.1680.10,SMART_domains:SM00423		C/R		C	medium	1765/7346		getma.org/?cm=msa&ty=f&p=PLXC1_HUMAN&rb=454&re=507&var=C506R	tolerated(0.22)	F8VUW4_HUMAN,F5H3A2_HUMAN			YES	PLXNC1,missense_variant,p.Cys506Arg,ENST00000258526,NM_005761.2;PLXNC1,downstream_gene_variant,,ENST00000551850,;							MODERATE	1516/4707	C506R	PLXC1_HUMAN			Transcript		benign(0.02)	.	ENSP00000258526		CCDS9049.1			1	
ABCB4	0	LGGM	GRCh37	7	87056158	87056158	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	29	2	.	.	ENST00000265723.4:c.1972T>C	p.Trp658Arg	p.W658R	ENST00000265723	NM_000443.3	658	Tgg/Cgg	0	1	1	UPI000013D66B	0	NA	ENST00000265723		ENSG00000005471	45		31	-0.695		HGNC	p.W658R		ABCB4		SNV			1				ENST00000265723	protein_coding	getma.org/?cm=var&var=hg19,7,87056158,A,G&fts=all		hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221		W/R		G	neutral	2084/4020		getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=562&re=710&var=W658R	tolerated(0.35)	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN			YES	ABCB4,missense_variant,p.Trp658Arg,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Trp658Arg,ENST00000359206,;ABCB4,missense_variant,p.Trp658Arg,ENST00000545634,;ABCB4,missense_variant,p.Trp658Arg,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Trp658Arg,ENST00000453593,;ABCB4,non_coding_transcript_exon_variant,,ENST00000469770,;							MODERATE	1972/3861	W658R	MDR3_HUMAN			Transcript		benign(0)	.	ENSP00000265723		CCDS5606.1			1	
VPS37A	0	LGGM	GRCh37	8	17126450	17126450	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	9	2	.	.	ENST00000324849.4:c.401C>A	p.Ser134Ter	p.S134*	ENST00000324849	NM_001145152.1	134	tCa/tAa	0	1	1	UPI0000039EC3	0	NA	ENST00000324849		ENSG00000155975	24928		11	0		HGNC	p.S134X		VPS37A		SNV			1				ENST00000425020	protein_coding	getma.org/?cm=var&var=hg19,8,17126450,C,A&fts=all		hmmpanther:PTHR13678,hmmpanther:PTHR13678:SF2		S/*		A	NA	1075/4906		NA		H0YBN0_HUMAN,B3KW95_HUMAN			YES	VPS37A,stop_gained,p.Ser134Ter,ENST00000324849,NM_001145152.1,NM_152415.2;VPS37A,stop_gained,p.Ser109Ter,ENST00000521829,;VPS37A,stop_gained,p.Ser134Ter,ENST00000324815,;VPS37A,downstream_gene_variant,,ENST00000518038,;VPS37A,stop_gained,p.Ser134Ter,ENST00000425020,;VPS37A,stop_gained,p.Ser134Ter,ENST00000520140,;VPS37A,downstream_gene_variant,,ENST00000519381,;							HIGH	401/1194	S134*	VP37A_HUMAN			Transcript			.	ENSP00000318629		CCDS6001.1			1	
CSMD1	0	LGGM	GRCh37	8	3855438	3855438	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	9	2	.	.	ENST00000537824.1:c.805G>C	p.Ala269Pro	p.A269P	ENST00000537824	NM_033225.5	269	Gct/Cct	0	1	1	UPI0001B723C6	0	getma.org/pdb.php?prot=CSMD1_HUMAN&from=208&to=309&var=A269P	ENST00000537824		ENSG00000183117	14026		11	-1.005		HGNC	p.A269P		CSMD1		SNV							ENST00000400186	protein_coding	getma.org/?cm=var&var=hg19,8,3855438,C,G&fts=all		PROSITE_profiles:PS01180,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		A/P		G	neutral	805/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=208&re=309&var=A269P		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Ala269Pro,ENST00000520002,;CSMD1,missense_variant,p.Ala269Pro,ENST00000602557,;CSMD1,missense_variant,p.Ala269Pro,ENST00000602723,;CSMD1,missense_variant,p.Ala269Pro,ENST00000400186,;CSMD1,missense_variant,p.Ala269Pro,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Ala269Pro,ENST00000542608,;CSMD1,missense_variant,p.Ala269Pro,ENST00000539096,;							MODERATE	805/10695	A269P				Transcript		probably_damaging(0.999)	.	ENSP00000441462		CCDS55189.1			1	
RBM26	0	LGGM	GRCh37	13	79915357	79915357	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	18	2	.	.	ENST00000267229.7:c.2352G>C	p.Gln784His	p.Q784H	ENST00000267229	NM_022118.3	784	caG/caC	0	1		UPI0000D61A89	0	NA	ENST00000438737		ENSG00000139746	20327		20	2.36		HGNC	p.Q787H		RBM26		SNV							ENST00000438724	protein_coding	getma.org/?cm=var&var=hg19,13,79915357,C,G&fts=all		hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF2		Q/H		G	medium	2874/4132		getma.org/?cm=msa&ty=f&p=RBM26_HUMAN&rb=801&re=905&var=Q811H	deleterious(0.01)					RBM26,missense_variant,p.Gln811His,ENST00000438737,NM_001286631.1;RBM26,missense_variant,p.Gln784His,ENST00000267229,NM_022118.3;RBM26,missense_variant,p.Gln787His,ENST00000438724,NM_001286632.1;RBM26,upstream_gene_variant,,ENST00000449987,;							MODERATE	2433/3024	Q811H	RBM26_HUMAN			Transcript		possibly_damaging(0.741)	.	ENSP00000387531					1	
ADAM23	0	LGGM	GRCh37	2	207412224	207412224	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	25	2	.	.	ENST00000264377.3:c.792C>G	p.Leu264=	p.L264=	ENST00000264377	NM_003812.3	264	ctC/ctG	0	1	1	UPI0000044543	0		ENST00000264377		ENSG00000114948	202		27			HGNC	p.L264L		ADAM23		SNV							ENST00000374416	protein_coding			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13		L		G		1120/6327				Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN			YES	ADAM23,splice_region_variant,p.=,ENST00000264377,NM_003812.3;ADAM23,splice_region_variant,p.=,ENST00000374416,;ADAM23,splice_region_variant,p.=,ENST00000374415,;							LOW	792/2499		ADA23_HUMAN			Transcript			.	ENSP00000264377		CCDS2369.1			1	
TLN2	0	LGGM	GRCh37	15	63055879	63055879	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	7	2	.	.	ENST00000561311.1:c.5079C>A	p.Asp1693Glu	p.D1693E	ENST00000561311		1693	gaC/gaA	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=1656&to=1849&var=D1693E	ENST00000306829		ENSG00000171914	15447	0.000126	9	0.55		HGNC	p.D1693E	rs370731939	TLN2		SNV	A:0.0005						ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,63055879,C,A&fts=all		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15		D/E	A:0	A	neutral	5079/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1656&re=1849&var=D1693E	tolerated(1)					TLN2,missense_variant,p.Asp1693Glu,ENST00000561311,;TLN2,missense_variant,p.Asp1693Glu,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.Asp607Glu,ENST00000494733,;TLN2,missense_variant,p.Asp86Glu,ENST00000472902,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;TLN2,non_coding_transcript_exon_variant,,ENST00000467297,;							MODERATE	5079/7629	D1693E	TLN2_HUMAN			Transcript		benign(0.003)	.	ENSP00000303476	1.65E-05	CCDS32261.1			1	
GSR	0	LGGM	GRCh37	8	30567347	30567347	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	4	2	.	.	ENST00000221130.5:c.406G>A	p.Gly136Ser	p.G136S	ENST00000221130	NM_000637.3	136	Ggt/Agt	0	1	1	UPI000012BBFF	0	getma.org/pdb.php?prot=GSHR_HUMAN&from=66&to=380&var=G136S	ENST00000221130		ENSG00000104687	4623		6	-0.51		HGNC	p.G136S		GSR		SNV			1				ENST00000541648	protein_coding	getma.org/?cm=var&var=hg19,8,30567347,C,T&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF106,TIGRFAM_domain:TIGR01421		G/S		T	neutral	497/3114		getma.org/?cm=msa&ty=f&p=GSHR_HUMAN&rb=66&re=380&var=G136S	tolerated(0.94)	E5RI06_HUMAN			YES	GSR,missense_variant,p.Gly136Ser,ENST00000221130,NM_000637.3,NM_001195102.1,NM_001195103.1;GSR,missense_variant,p.Gly93Ser,ENST00000414019,;GSR,missense_variant,p.Gly136Ser,ENST00000546342,;GSR,missense_variant,p.Gly136Ser,ENST00000541648,;GSR,missense_variant,p.Gly136Ser,ENST00000537535,NM_001195104.1;GSR,missense_variant,p.Gly92Ser,ENST00000520888,;GSR,missense_variant,p.Gly24Ser,ENST00000521479,;GSR,missense_variant,p.Gly80Ser,ENST00000523295,;							MODERATE	406/1569	G136S	GSHR_HUMAN			Transcript		benign(0.001)	.	ENSP00000221130		CCDS34877.1			1	
CYP2W1	0	LGGM	GRCh37	7	1028421	1028421	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	7	2	.	.	ENST00000308919.7:c.1436C>A	p.Pro479Gln	p.P479Q	ENST00000308919	NM_017781.2	479	cCg/cAg	0	1	1	UPI000013C59A	0	getma.org/pdb.php?prot=CP2W1_HUMAN&from=32&to=486&var=P479Q	ENST00000308919		ENSG00000073067	20243		9	3.555		HGNC	p.P479Q		CYP2W1		SNV							ENST00000308919	protein_coding	getma.org/?cm=var&var=hg19,7,1028421,C,A&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF50,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		P/Q		A	high	1449/2304		getma.org/?cm=msa&ty=f&p=CP2W1_HUMAN&rb=32&re=486&var=P479Q	deleterious(0)				YES	CYP2W1,missense_variant,p.Pro479Gln,ENST00000308919,NM_017781.2;CYP2W1,3_prime_UTR_variant,,ENST00000340150,;CYP2W1,3_prime_UTR_variant,,ENST00000415893,;CYP2W1,downstream_gene_variant,,ENST00000462453,;CYP2W1,downstream_gene_variant,,ENST00000468456,;							MODERATE	1436/1473	P479Q	CP2W1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310149		CCDS5319.2			1	
NDUFS8	0	LGGM	GRCh37	11	67803763	67803763	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	11	2	.	.	ENST00000313468.5:c.416G>C	p.Arg139Pro	p.R139P	ENST00000313468	NM_002496.3	139	cGg/cCg	0	1	1	UPI000013094B	0	getma.org/pdb.php?prot=NDUS8_HUMAN&from=110&to=164&var=R139P	ENST00000313468		ENSG00000110717	7715		13	0.945		HGNC	p.R139P		NDUFS8		SNV			1				ENST00000313468	protein_coding	getma.org/?cm=var&var=hg19,11,67803763,G,C&fts=all		Superfamily_domains:SSF54862,Gene3D:1.10.1060.10,Pfam_domain:PF12838,TIGRFAM_domain:TIGR01971,hmmpanther:PTHR10849,HAMAP:MF_01351		R/P		C	low	523/791		getma.org/?cm=msa&ty=f&p=NDUS8_HUMAN&rb=110&re=164&var=R139P	deleterious_low_confidence(0)	Q08E91_HUMAN,F8W9K7_HUMAN,E9PPW7_HUMAN,E9PN51_HUMAN			YES	NDUFS8,missense_variant,p.Arg139Pro,ENST00000313468,NM_002496.3;NDUFS8,missense_variant,p.Arg139Pro,ENST00000526339,;NDUFS8,missense_variant,p.Arg121Pro,ENST00000525419,;NDUFS8,5_prime_UTR_variant,,ENST00000528492,;TCIRG1,upstream_gene_variant,,ENST00000265686,NM_006019.3;TCIRG1,upstream_gene_variant,,ENST00000524598,;TCIRG1,upstream_gene_variant,,ENST00000529657,;NDUFS8,downstream_gene_variant,,ENST00000453471,;NDUFS8,downstream_gene_variant,,ENST00000525628,;MIR4691,downstream_gene_variant,,ENST00000583764,;NDUFS8,non_coding_transcript_exon_variant,,ENST00000526542,;NDUFS8,3_prime_UTR_variant,,ENST00000526446,;NDUFS8,3_prime_UTR_variant,,ENST00000524810,;NDUFS8,non_coding_transcript_exon_variant,,ENST00000531282,;NDUFS8,downstream_gene_variant,,ENST00000532399,;TCIRG1,upstream_gene_variant,,ENST00000533947,;NDUFS8,downstream_gene_variant,,ENST00000432321,;TCIRG1,upstream_gene_variant,,ENST00000534673,;NDUFS8,downstream_gene_variant,,ENST00000531796,;NDUFS8,downstream_gene_variant,,ENST00000529645,;NDUFS8,downstream_gene_variant,,ENST00000531228,;							MODERATE	416/633	R139P	NDUS8_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000315774		CCDS8176.1			1	
CLCNKA	0	LGGM	GRCh37	1	16353909	16353909	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	47	3	.	.	ENST00000331433.4:c.760G>A	p.Ala254Thr	p.A254T	ENST00000331433		254	Gca/Aca	0	1	1	UPI0000127993	0	getma.org/pdb.php?prot=CLCKA_HUMAN&from=102&to=514&var=A254T	ENST00000331433		ENSG00000186510	2026		50	1.99		HGNC	p.A211T		CLCNKA		SNV			1				ENST00000439316	protein_coding	getma.org/?cm=var&var=hg19,1,16353909,G,A&fts=all		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix		A/T		A	medium	779/2475		getma.org/?cm=msa&ty=f&p=CLCKA_HUMAN&rb=102&re=514&var=A254T	deleterious(0.03)				YES	CLCNKA,missense_variant,p.Ala254Thr,ENST00000375692,;CLCNKA,missense_variant,p.Ala254Thr,ENST00000420078,NM_004070.3,NM_001042704.1,NM_001257139.1;CLCNKA,missense_variant,p.Ala254Thr,ENST00000331433,;CLCNKA,missense_variant,p.Ala211Thr,ENST00000439316,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;							MODERATE	760/2064	A254T	CLCKA_HUMAN			Transcript		benign(0.191)	.	ENSP00000332771		CCDS167.1			1	
LZIC	0	LGGM	GRCh37	1	9992869	9992869	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	20	3	.	.	ENST00000377223.1:c.424G>T	p.Gly142Ter	p.G142*	ENST00000377223		142	Gga/Tga	0	1		UPI000006E3EF	0	NA	ENST00000377213		ENSG00000162441	17497		23	0		HGNC	p.G142X		LZIC		SNV							ENST00000400903	protein_coding	getma.org/?cm=var&var=hg19,1,9992869,C,A&fts=all		Gene3D:1m1eB01,Pfam_domain:PF06384,hmmpanther:PTHR16505,hmmpanther:PTHR16505:SF7,Superfamily_domains:SSF81730		G/*		A	NA	650/945		NA						LZIC,stop_gained,p.Gly142Ter,ENST00000377223,;LZIC,stop_gained,p.Gly142Ter,ENST00000400903,NM_032368.3;LZIC,stop_gained,p.Gly163Ter,ENST00000541052,;LZIC,stop_gained,p.Gly142Ter,ENST00000377213,;LZIC,stop_gained,p.Gly106Ter,ENST00000488540,;LZIC,upstream_gene_variant,,ENST00000471853,;							HIGH	424/573	G142*	LZIC_HUMAN			Transcript			.	ENSP00000366418		CCDS107.1			1	
PPAT	0	LGGM	GRCh37	4	57269290	57269290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	33	3	.	.	ENST00000264220.2:c.577G>T	p.Val193Phe	p.V193F	ENST00000264220	NM_002703.4	193	Gtt/Ttt	0	1	1	UPI0000000C5A	0	getma.org/pdb.php?prot=PUR1_HUMAN&from=63&to=236&var=V193F	ENST00000264220		ENSG00000128059	9238		36	1.04		HGNC	p.V193F		PPAT		SNV							ENST00000264220	protein_coding	getma.org/?cm=var&var=hg19,4,57269290,C,A&fts=all		PROSITE_profiles:PS51278,hmmpanther:PTHR11907,hmmpanther:PTHR11907:SF3,Pfam_domain:PF00310,TIGRFAM_domain:TIGR01134,Gene3D:3.60.20.10,PIRSF_domain:PIRSF000485,Superfamily_domains:SSF56235		V/F		A	low	715/3682		getma.org/?cm=msa&ty=f&p=PUR1_HUMAN&rb=63&re=236&var=V193F	tolerated(0.05)	A8K4H7_HUMAN			YES	PPAT,missense_variant,p.Val193Phe,ENST00000264220,NM_002703.4;PPAT,non_coding_transcript_exon_variant,,ENST00000507648,;PPAT,3_prime_UTR_variant,,ENST00000510643,;PPAT,3_prime_UTR_variant,,ENST00000507724,;PPAT,upstream_gene_variant,,ENST00000425339,;							MODERATE	577/1554	V193F	PUR1_HUMAN			Transcript		benign(0.009)	.	ENSP00000264220		CCDS3505.1			1	
PIP4K2B	0	LGGM	GRCh37	17	36927482	36927482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	23	3	.	.	ENST00000269554.3:c.851G>A	p.Gly284Asp	p.G284D	ENST00000269554	NM_003559.4	284	gGc/gAc	0	1	1	UPI0000032D92	0	getma.org/pdb.php?prot=PI42B_HUMAN&from=119&to=415&var=G284D	ENST00000269554		ENSG00000141720	8998		26	3.955		HGNC	p.G284D		PIP4K2B		SNV							ENST00000269554	protein_coding	getma.org/?cm=var&var=hg19,17,36927482,C,T&fts=all		Gene3D:1bo1A02,Pfam_domain:PF01504,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF22,SMART_domains:SM00330,Superfamily_domains:SSF56104		G/D		T	high	1332/5734		getma.org/?cm=msa&ty=f&p=PI42B_HUMAN&rb=119&re=415&var=G284D	deleterious(0)	J3QQP6_HUMAN			YES	PIP4K2B,missense_variant,p.Gly284Asp,ENST00000269554,NM_003559.4;PIP4K2B,non_coding_transcript_exon_variant,,ENST00000583278,;							MODERATE	851/1251	G284D	PI42B_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000269554		CCDS11329.1			1	
TULP1	0	LGGM	GRCh37	6	35479469	35479469	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	5	3	.	.	ENST00000229771.6:c.305C>G	p.Pro102Arg	p.P102R	ENST00000229771	NM_003322.3	102	cCc/cGc	0	1	1	UPI000045742A	0	NA	ENST00000229771		ENSG00000112041	12423		8	1.59		HGNC	p.P102R		TULP1		SNV			1				ENST00000229771	protein_coding	getma.org/?cm=var&var=hg19,6,35479469,G,C&fts=all		hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12		P/R		C	low	385/2162		getma.org/?cm=msa&ty=f&p=TULP1_HUMAN&rb=1&re=275&var=P102R	deleterious_low_confidence(0)	Q0QD38_HUMAN			YES	TULP1,missense_variant,p.Pro102Arg,ENST00000229771,NM_003322.3;TULP1,intron_variant,,ENST00000322263,;TULP1,intron_variant,,ENST00000428978,;TULP1,non_coding_transcript_exon_variant,,ENST00000373892,;TULP1,non_coding_transcript_exon_variant,,ENST00000448446,;							MODERATE	305/1629	P102R	TULP1_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000229771		CCDS4807.1			1	
TRAPPC3L	0	LGGM	GRCh37	6	116861625	116861625	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	9	4	.	.	ENST00000368602.3:c.141G>A	p.Met47Ile	p.M47I	ENST00000368602	NM_001139444.2	47	atG/atA	0	1	1	UPI000020E146	0	getma.org/pdb.php?prot=TPC3L_HUMAN&from=18&to=168&var=M47I	ENST00000368602		ENSG00000173626	21090		13	1.88		HGNC	p.M47I		TRAPPC3L		SNV							ENST00000368602	protein_coding	getma.org/?cm=var&var=hg19,6,116861625,C,T&fts=all		Superfamily_domains:SSF111126,PIRSF_domain:PIRSF018293,Pfam_domain:PF04051,Gene3D:3.30.1380.20,hmmpanther:PTHR13048:SF1,hmmpanther:PTHR13048		M/I		T	low	237/1113		getma.org/?cm=msa&ty=f&p=TPC3L_HUMAN&rb=18&re=168&var=M47I	tolerated(0.15)				YES	TRAPPC3L,missense_variant,p.Met47Ile,ENST00000368602,NM_001139444.2;TRAPPC3L,missense_variant,p.Met33Ile,ENST00000437098,;FAM26D,intron_variant,,ENST00000368597,NM_153036.3,NM_001256889.1;FAM26D,intron_variant,,ENST00000405399,NM_001256887.1;FAM26D,intron_variant,,ENST00000416171,NM_001256888.1;FAM26D,intron_variant,,ENST00000452373,;							MODERATE	141/546	M47I	TPC3L_HUMAN			Transcript		benign(0.244)	.	ENSP00000357591		CCDS47468.1			1	
ZC3H10	0	LGGM	GRCh37	12	56514402	56514402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	13	4	.	.	ENST00000257940.2:c.56G>T	p.Gly19Val	p.G19V	ENST00000257940	NM_032786.1	19	gGa/gTa	0	1	1	UPI0000070771	0	NA	ENST00000257940		ENSG00000135482	25893		17	0.345		HGNC	p.G19V		ZC3H10		SNV							ENST00000552345	protein_coding	getma.org/?cm=var&var=hg19,12,56514402,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12675		G/V		T	neutral	332/2208		getma.org/?cm=msa&ty=f&p=ZC3HA_HUMAN&rb=1&re=134&var=G19V	tolerated_low_confidence(0.19)	F8VYY3_HUMAN,F8VSG0_HUMAN,F8VQT2_HUMAN			YES	ZC3H10,missense_variant,p.Gly19Val,ENST00000257940,NM_032786.1;ZC3H10,missense_variant,p.Gly19Val,ENST00000551880,;ZC3H10,missense_variant,p.Gly19Val,ENST00000546903,;ZC3H10,missense_variant,p.Gly19Val,ENST00000552345,;ESYT1,intron_variant,,ENST00000551790,;RPL41,downstream_gene_variant,,ENST00000546591,NM_001035267.1;RPL41,downstream_gene_variant,,ENST00000501597,NM_021104.1;RP11-603J24.5,intron_variant,,ENST00000550947,;RP11-603J24.5,downstream_gene_variant,,ENST00000549438,;RP11-603J24.6,upstream_gene_variant,,ENST00000550840,;RPL41,downstream_gene_variant,,ENST00000552314,;ZC3H10,downstream_gene_variant,,ENST00000549973,;RPL41,downstream_gene_variant,,ENST00000358888,;RPL41,downstream_gene_variant,,ENST00000546485,;RPL41,downstream_gene_variant,,ENST00000546654,;							MODERATE	56/1305	G19V	ZC3HA_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000257940		CCDS8903.1			1	
EIF5AL1	0	LGGM	GRCh37	10	81272651	81272651	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	39	4	.	.	ENST00000520547.2:c.246C>A	p.Pro82=	p.P82=	ENST00000520547	NM_001099692.1	82	ccC/ccA	0	1	1	UPI00001972AD	0		ENST00000520547		ENSG00000253626	17419		43			HGNC	p.P82P		EIF5AL1		SNV							ENST00000520547	protein_coding			hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,Gene3D:2.30.30.30,TIGRFAM_domain:TIGR00037,PIRSF_domain:PIRSF003025,Superfamily_domains:SSF50104		P		A		295/3832							YES	EIF5AL1,synonymous_variant,p.=,ENST00000520547,NM_001099692.1;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;							LOW	246/465		IF5AL_HUMAN			Transcript			.	ENSP00000430706		CCDS53546.1			1	
NDC80	0	LGGM	GRCh37	18	2572986	2572986	+	start_lost	Translation_Start_Site	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	14	5	.	.	ENST00000261597.4:c.2T>A	p.Met1?	p.M1?	ENST00000261597	NM_006101.2	1	aTg/aAg	0	1	1	UPI0000073C92	0	NA	ENST00000261597		ENSG00000080986	16909		19	0		HGNC	p.M1K		NDC80		SNV							ENST00000261597	protein_coding	getma.org/?cm=var&var=hg19,18,2572986,T,A&fts=all		hmmpanther:PTHR10643,hmmpanther:PTHR10643:SF2		M/K		A	NA	184/2172		http://getma.org/?cm=msa&ty=f&p=NDC80_HUMAN&rb=1&re=48&var=M1K	deleterious(0)	A8K031_HUMAN			YES	NDC80,start_lost,p.Met1?,ENST00000261597,NM_006101.2;NDC80,start_lost,p.Met1?,ENST00000575515,;METTL4,upstream_gene_variant,,ENST00000319888,;METTL4,upstream_gene_variant,,ENST00000574538,NM_022840.3;NDC80,upstream_gene_variant,,ENST00000576274,;METTL4,upstream_gene_variant,,ENST00000574676,;METTL4,upstream_gene_variant,,ENST00000577166,;RP11-715F3.1,downstream_gene_variant,,ENST00000579765,;							HIGH	Feb-29	M1K	NDC80_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261597		CCDS11827.1			1	
CSDE1	0	LGGM	GRCh37	1	115280134	115280134	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	29	5	.	.	ENST00000438362.2:c.498G>A	p.Pro166=	p.P166=	ENST00000438362	NM_001242891.1	166	ccG/ccA	0	1		UPI0000137C99	0		ENST00000358528		ENSG00000009307	29905		34			HGNC	p.P166P		CSDE1		SNV							ENST00000438362	protein_coding			hmmpanther:PTHR12913,hmmpanther:PTHR12913:SF1		P		T		787/4076				Q9UG93_HUMAN,E9PLD4_HUMAN,E9PKN4_HUMAN				CSDE1,synonymous_variant,p.=,ENST00000438362,NM_001242891.1;CSDE1,synonymous_variant,p.=,ENST00000358528,NM_001007553.2;CSDE1,synonymous_variant,p.=,ENST00000534699,NM_001242892.1;CSDE1,intron_variant,,ENST00000339438,NM_007158.5;CSDE1,intron_variant,,ENST00000369530,NM_001130523.2;CSDE1,intron_variant,,ENST00000530886,;CSDE1,intron_variant,,ENST00000261443,NM_001242893.1;CSDE1,intron_variant,,ENST00000529046,;CSDE1,intron_variant,,ENST00000525132,;CSDE1,downstream_gene_variant,,ENST00000525878,;CSDE1,downstream_gene_variant,,ENST00000534389,;CSDE1,downstream_gene_variant,,ENST00000525970,;							LOW	360/2397		CSDE1_HUMAN			Transcript			.	ENSP00000351329		CCDS30812.1			1	
TTN	0	LGGM	GRCh37	2	179443860	179443860	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	137	5	.	.	ENST00000589042.1:c.67897G>T	p.Glu22633Ter	p.E22633*	ENST00000589042	NM_001267550.1	22633	Gaa/Taa	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		142	0		HGNC	p.E13693X		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179443860,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/*		A	NA	63199/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Glu22633Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Glu20992Ter,ENST00000591111,;TTN,stop_gained,p.Glu20065Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Glu13760Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Glu13693Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Glu13568Ter,ENST00000460472,NM_003319.4;RP11-171I2.2,non_coding_transcript_exon_variant,,ENST00000603521,;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,downstream_gene_variant,,ENST00000604215,;							HIGH	62974/103053	E20992*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GTF2IRD1	0	LGGM	GRCh37	7	73938472	73938472	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	1	6	.	.	ENST00000455841.2:c.1174A>T	p.Asn392Tyr	p.N392Y	ENST00000455841	NM_001199207.1	392	Aac/Tac	0	1		UPI000012AE30	0	getma.org/pdb.php?prot=GT2D1_HUMAN&from=351&to=426&var=N360Y	ENST00000265755		ENSG00000006704	4661		7	2.135		HGNC	p.N360Y		GTF2IRD1		SNV			1				ENST00000265755	protein_coding	getma.org/?cm=var&var=hg19,7,73938472,A,T&fts=all		Superfamily_domains:0048894,Gene3D:1q60A00,Pfam_domain:PF02946,PIRSF_domain:PIRSF016441,PROSITE_profiles:PS51139,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF84		N/Y		T	medium	1471/3430		getma.org/?cm=msa&ty=f&p=GT2D1_HUMAN&rb=351&re=426&var=N360Y	deleterious(0)	Q75MX6_HUMAN				GTF2IRD1,missense_variant,p.Asn360Tyr,ENST00000476977,;GTF2IRD1,missense_variant,p.Asn360Tyr,ENST00000265755,NM_005685.3,NM_016328.2;GTF2IRD1,missense_variant,p.Asn392Tyr,ENST00000455841,NM_001199207.1;GTF2IRD1,missense_variant,p.Asn360Tyr,ENST00000424337,;GTF2IRD1,non_coding_transcript_exon_variant,,ENST00000489094,;							MODERATE	1078/2880	N360Y	GT2D1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265755		CCDS5571.1			1	
CPAMD8	0	LGGM	GRCh37	19	17086036	17086036	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	5	6	.	.	ENST00000443236.1:c.2082T>A	p.Ser694=	p.S694=	ENST00000443236	NM_015692.2	694	tcT/tcA	0	1	1	UPI0000E8AC99	0		ENST00000443236		ENSG00000160111	23228		11			HGNC	p.S694S		CPAMD8		SNV							ENST00000443236	protein_coding			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76		S		T		2114/5992							YES	CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,synonymous_variant,p.=,ENST00000388925,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,synonymous_variant,p.=,ENST00000291440,;CPAMD8,upstream_gene_variant,,ENST00000602159,;							LOW	2082/5799		CPMD8_HUMAN			Transcript			.	ENSP00000402505		CCDS42519.1			1	
NPBWR2	0	LGGM	GRCh37	20	62737749	62737749	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	13	7	.	.	ENST00000369768.1:c.436G>A	p.Val146Met	p.V146M	ENST00000369768	NM_005286.2	146	Gtg/Atg	0	1	1	UPI000013CBB3	0	getma.org/pdb.php?prot=NPBW2_HUMAN&from=62&to=316&var=V146M	ENST00000369768		ENSG00000125522	4530		20	3.33		HGNC	p.V146M	rs781667572	NPBWR2		SNV							ENST00000369768	protein_coding	getma.org/?cm=var&var=hg19,20,62737749,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		V/M		T	medium	776/1352	3.16E-05	getma.org/?cm=msa&ty=f&p=NPBW2_HUMAN&rb=62&re=316&var=V146M	deleterious(0)				YES	NPBWR2,missense_variant,p.Val146Met,ENST00000369768,NM_005286.2;	0.000822						MODERATE	436/1002	V146M	NPBW2_HUMAN			Transcript		probably_damaging(0.999)	common_variant	ENSP00000358783	7.44E-05	CCDS13557.1			1	
MATR3	0	LGGM	GRCh37	5	138657699	138657699	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	34	8	.	.	ENST00000394805.3:c.1715A>G	p.Tyr572Cys	p.Y572C	ENST00000394805	NM_001194955.1	572	tAt/tGt	0	1	1	UPI0000000DEE	0	getma.org/pdb.php?prot=MATR3_HUMAN&from=570&to=590&var=Y572C	ENST00000394805		ENSG00000015479	6912		42	0.895		HGNC	p.Y234C	COSM1433454	MATR3		SNV			1			1	ENST00000502499	protein_coding	getma.org/?cm=var&var=hg19,5,138657699,A,G&fts=all		hmmpanther:PTHR15592,Superfamily_domains:SSF54928		Y/C		G	low	2050/4843		getma.org/?cm=msa&ty=f&p=MATR3_HUMAN&rb=540&re=620&var=Y572C	deleterious(0)	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			YES	MATR3,missense_variant,p.Tyr572Cys,ENST00000394800,;MATR3,missense_variant,p.Tyr572Cys,ENST00000394805,NM_001194955.1,NM_018834.5;MATR3,missense_variant,p.Tyr572Cys,ENST00000502929,;MATR3,missense_variant,p.Tyr572Cys,ENST00000361059,NM_199189.2;MATR3,missense_variant,p.Tyr572Cys,ENST00000509990,NM_001194954.1;MATR3,missense_variant,p.Tyr572Cys,ENST00000510056,;MATR3,missense_variant,p.Tyr234Cys,ENST00000502499,;MATR3,missense_variant,p.Tyr284Cys,ENST00000503811,NM_001194956.1;MATR3,missense_variant,p.Tyr234Cys,ENST00000504203,;MATR3,missense_variant,p.Tyr332Cys,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,downstream_gene_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,;					1		MODERATE	1715/2544	Y572C	MATR3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000378284		CCDS4210.1			1	
CLEC4F	0	LGGM	GRCh37	2	71043992	71043992	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	26	9	.	.	ENST00000272367.2:c.521A>T	p.Glu174Val	p.E174V	ENST00000272367	NM_001258027.1	174	gAg/gTg	0	1	1	UPI0000376BCC	0	NA	ENST00000272367		ENSG00000152672	25357		35	2.085		HGNC	p.E174V		CLEC4F		SNV							ENST00000426626	protein_coding	getma.org/?cm=var&var=hg19,2,71043992,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195		E/V		A	medium	598/2475		getma.org/?cm=msa&ty=f&p=CLC4F_HUMAN&rb=170&re=250&var=E174V	deleterious(0.04)				YES	CLEC4F,missense_variant,p.Glu174Val,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,missense_variant,p.Glu174Val,ENST00000426626,;							MODERATE	521/1770	E174V	CLC4F_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000272367		CCDS1910.1			1	
MYO3A	0	LGGM	GRCh37	10	26315399	26315399	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	24	9	.	.	ENST00000265944.5:c.891A>T	p.Leu297=	p.L297=	ENST00000265944	NM_017433.4	297	ctA/ctT	0	1	1	UPI000014140A	0		ENST00000265944		ENSG00000095777	7601		33			HGNC	p.L297L		MYO3A		SNV			1				ENST00000543632	protein_coding			hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140		L		T		1057/5581							YES	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,synonymous_variant,p.=,ENST00000543632,;MYO3A,downstream_gene_variant,,ENST00000376302,;							LOW	891/4851		MYO3A_HUMAN			Transcript			.	ENSP00000265944		CCDS7148.1			1	
ABL1	0	LGGM	GRCh37	9	133760473	133760473	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	14	9	.	.	ENST00000318560.5:c.2796A>T	p.Thr932=	p.T932=	ENST00000318560	NM_005157.4	932	acA/acT	0	1		UPI000013D6D4	0		ENST00000318560		ENSG00000097007	76		23			HGNC	p.T951T		ABL1		SNV			1				ENST00000372348	protein_coding			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87		T		T		3177/5766								ABL1,synonymous_variant,p.=,ENST00000318560,NM_005157.4;ABL1,synonymous_variant,p.=,ENST00000372348,NM_007313.2;							LOW	2796/3393		ABL1_HUMAN			Transcript			.	ENSP00000323315		CCDS35166.1			1	
KLHL22	0	LGGM	GRCh37	22	20796697	20796697	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	12	9	.	.	ENST00000328879.4:c.1568A>T	p.Gln523Leu	p.Q523L	ENST00000328879	NM_032775.3	523	cAg/cTg	0	1	1	UPI0000072F37	0	NA	ENST00000328879		ENSG00000099910	25888		21	2.245		HGNC	p.Q380L		KLHL22		SNV							ENST00000440659	protein_coding	getma.org/?cm=var&var=hg19,22,20796697,T,A&fts=all		hmmpanther:PTHR24412:SF180,hmmpanther:PTHR24412,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		Q/L		A	medium	1725/2616		getma.org/?cm=msa&ty=f&p=KLH22_HUMAN&rb=492&re=535&var=Q523L	tolerated(0.06)	C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN			YES	KLHL22,missense_variant,p.Gln523Leu,ENST00000328879,NM_032775.3;KLHL22,missense_variant,p.Gln380Leu,ENST00000440659,;SCARF2,upstream_gene_variant,,ENST00000405555,NM_182895.2;SCARF2,upstream_gene_variant,,ENST00000266214,NM_153334.4;KLHL22,intron_variant,,ENST00000429594,;							MODERATE	1568/1905	Q523L	KLH22_HUMAN			Transcript		benign(0.253)	.	ENSP00000331682		CCDS13780.1			1	
CKMT2	0	LGGM	GRCh37	5	80550280	80550280	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	16	9	.	.	ENST00000424301.2:c.417G>T	p.Met139Ile	p.M139I	ENST00000424301	NM_001825.2	139	atG/atT	0	1		UPI000013CE0D	0	getma.org/pdb.php?prot=KCRS_HUMAN&from=135&to=153&var=M139I	ENST00000254035		ENSG00000131730	1996		25	2.125		HGNC	p.M139I		CKMT2		SNV							ENST00000254035	protein_coding	getma.org/?cm=var&var=hg19,5,80550280,G,T&fts=all		hmmpanther:PTHR11547:SF19,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Superfamily_domains:SSF55931		M/I		T	medium	530/1512		getma.org/?cm=msa&ty=f&p=KCRS_HUMAN&rb=105&re=183&var=M139I	tolerated(0.29)	D6R998_HUMAN,B3KVA7_HUMAN				CKMT2,missense_variant,p.Met139Ile,ENST00000424301,NM_001825.2;CKMT2,missense_variant,p.Met139Ile,ENST00000254035,;CKMT2,missense_variant,p.Met139Ile,ENST00000437669,NM_001099735.1,NM_001099736.1;CKMT2,missense_variant,p.Met139Ile,ENST00000511719,;CKMT2,missense_variant,p.Met139Ile,ENST00000505060,;CKMT2-AS1,intron_variant,,ENST00000501927,;CKMT2-AS1,intron_variant,,ENST00000500148,;CKMT2-AS1,intron_variant,,ENST00000502041,;CKMT2-AS1,intron_variant,,ENST00000505295,;CKMT2-AS1,intron_variant,,ENST00000512287,;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2-AS1,intron_variant,,ENST00000503483,;CKMT2,non_coding_transcript_exon_variant,,ENST00000515615,;CKMT2,non_coding_transcript_exon_variant,,ENST00000513094,;CKMT2,downstream_gene_variant,,ENST00000505704,;CKMT2,non_coding_transcript_exon_variant,,ENST00000505135,;CKMT2,non_coding_transcript_exon_variant,,ENST00000515238,;CKMT2,upstream_gene_variant,,ENST00000514086,;CKMT2,upstream_gene_variant,,ENST00000505850,;							MODERATE	417/1260	M139I	KCRS_HUMAN			Transcript		benign(0.152)	.	ENSP00000254035		CCDS4053.1			1	
TTN	0	LGGM	GRCh37	2	179552914	179552914	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	43	10	.	.	ENST00000589042.1:c.32235G>A	p.Glu10745=	p.E10745=	ENST00000589042	NM_001267550.1	10745	gaG/gaA	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		53			HGNC	p.E10745E		TTN		SNV			1				ENST00000589042	protein_coding			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg		E		T		31509/104301				C9JQJ2_HUMAN				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,;							LOW	31284/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FLT4	0	LGGM	GRCh37	5	180047659	180047659	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	8	10	.	.	ENST00000261937.6:c.2356G>A	p.Ala786Thr	p.A786T	ENST00000261937	NM_182925.4	786	Gct/Act	0	1	1	UPI00001488E7	0	NA	ENST00000261937		ENSG00000037280	3767		18	2.415		HGNC	p.A786T		FLT4		SNV			1				ENST00000393347	protein_coding	getma.org/?cm=var&var=hg19,5,180047659,C,T&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,Transmembrane_helices:TMhelix		A/T		T	medium	2435/5857		getma.org/?cm=msa&ty=f&p=VGFR3_HUMAN&rb=766&re=844&var=A786T	deleterious(0)	D6RFF2_HUMAN			YES	FLT4,missense_variant,p.Ala786Thr,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Ala786Thr,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Ala786Thr,ENST00000502649,;FLT4,upstream_gene_variant,,ENST00000512795,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,upstream_gene_variant,,ENST00000514810,;							MODERATE	2356/4092	A786T	VGFR3_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000261937		CCDS4457.1			1	
TTC21A	0	LGGM	GRCh37	3	39170422	39170422	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	23	10	.	.	ENST00000431162.2:c.1916T>C	p.Leu639Pro	p.L639P	ENST00000431162		639	cTa/cCa	0	1	1	UPI00015D46B9	0	NA	ENST00000431162		ENSG00000168026	30761		33	1.975		HGNC	p.L591P		TTC21A		SNV							ENST00000440121	protein_coding	getma.org/?cm=var&var=hg19,3,39170422,T,C&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2		L/P		C	medium	2050/4209		getma.org/?cm=msa&ty=f&p=TT21A_HUMAN&rb=599&re=729&var=L639P	tolerated(0.37)				YES	TTC21A,missense_variant,p.Leu640Pro,ENST00000301819,NM_145755.2;TTC21A,missense_variant,p.Leu639Pro,ENST00000431162,;TTC21A,missense_variant,p.Leu591Pro,ENST00000440121,NM_001105513.2;TTC21A,non_coding_transcript_exon_variant,,ENST00000466875,;TTC21A,upstream_gene_variant,,ENST00000493856,;TTC21A,upstream_gene_variant,,ENST00000472866,;TTC21A,upstream_gene_variant,,ENST00000481734,;TTC21A,upstream_gene_variant,,ENST00000471025,;TTC21A,missense_variant,p.Leu632Pro,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000473587,;							MODERATE	1916/3963	L639P	TT21A_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000398211		CCDS46800.1			1	
AP5Z1	0	LGGM	GRCh37	7	4830089	4830089	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	39	11	.	.	ENST00000348624.4:c.1806-1G>T		p.X602_splice	ENST00000348624	NM_014855.2			0	1	1	UPI00003E5903	0		ENST00000348624		ENSG00000242802	22197		50			HGNC	-		AP5Z1		SNV			1				ENST00000348624	protein_coding							T		-/2901				A4D1Z4_HUMAN			YES	AP5Z1,splice_acceptor_variant,,ENST00000348624,NM_014855.2;AP5Z1,downstream_gene_variant,,ENST00000401897,;MIR4656,upstream_gene_variant,,ENST00000579503,;AP5Z1,splice_acceptor_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000469614,;AP5Z1,downstream_gene_variant,,ENST00000477454,;							HIGH	1806/2424		AP5Z1_HUMAN			Transcript			.	ENSP00000297562		CCDS47528.1			1	
PDZRN3	0	LGGM	GRCh37	3	73433741	73433741	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	18	11	.	.	ENST00000263666.4:c.1976C>T	p.Ala659Val	p.A659V	ENST00000263666	NM_015009.1	659	gCc/gTc	0	1	1	UPI00001C1DE6	0	NA	ENST00000263666		ENSG00000121440	17704		29	1.61		HGNC	p.A376V	rs778623608	PDZRN3		SNV							ENST00000479530	protein_coding	getma.org/?cm=var&var=hg19,3,73433741,G,A&fts=all		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545		A/V		A	low	2091/4248	1.52E-05	getma.org/?cm=msa&ty=f&p=PZRN3_HUMAN&rb=502&re=701&var=A659V	tolerated(0.08)	E7ENB6_HUMAN			YES	PDZRN3,missense_variant,p.Ala659Val,ENST00000263666,NM_015009.1;PDZRN3,missense_variant,p.Ala316Val,ENST00000462146,;PDZRN3,missense_variant,p.Ala381Val,ENST00000535920,;PDZRN3,missense_variant,p.Ala376Val,ENST00000479530,;PDZRN3,missense_variant,p.Ala316Val,ENST00000466780,;PDZRN3,missense_variant,p.Ala357Val,ENST00000492909,;PDZRN3,intron_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;							MODERATE	1976/3201	A659V	PZRN3_HUMAN			Transcript		benign(0.001)	.	ENSP00000263666	8.24E-06	CCDS33789.1			1	
PLA2G4C	0	LGGM	GRCh37	19	48558154	48558154	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	40	11	.	.	ENST00000599111.1:c.1440C>A	p.Phe480Leu	p.F480L	ENST00000599111	NM_003706.2	480	ttC/ttA	0	1		UPI00001AF235	0	getma.org/pdb.php?prot=PA24C_HUMAN&from=344&to=538&var=F470L	ENST00000599921		ENSG00000105499	9037		51	2.005		HGNC	p.F470L		PLA2G4C		SNV							ENST00000413144	protein_coding	getma.org/?cm=var&var=hg19,19,48558154,G,T&fts=all		PROSITE_profiles:PS51210,hmmpanther:PTHR10728:SF28,hmmpanther:PTHR10728,Gene3D:3.40.1090.10,SMART_domains:SM00022,Superfamily_domains:SSF52151		F/L		T	medium	1768/1984		getma.org/?cm=msa&ty=f&p=PA24C_HUMAN&rb=344&re=538&var=F470L	deleterious(0)	Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN,M0R0F6_HUMAN				PLA2G4C,missense_variant,p.Phe470Leu,ENST00000354276,NM_001159323.1;PLA2G4C,missense_variant,p.Phe480Leu,ENST00000599111,NM_003706.2,NM_001159322.1;PLA2G4C,missense_variant,p.Phe470Leu,ENST00000599921,;PLA2G4C,missense_variant,p.Phe470Leu,ENST00000413144,;PLA2G4C,downstream_gene_variant,,ENST00000599300,;AC010458.1,upstream_gene_variant,,ENST00000408668,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596510,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000594790,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000596353,;							MODERATE	1410/1626	F470L	PA24C_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000469473		CCDS12710.1			1	
CAD	0	LGGM	GRCh37	2	27464806	27464806	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	4	11	.	.	ENST00000264705.4:c.5911G>A	p.Glu1971Lys	p.E1971K	ENST00000264705	NM_004341.3	1971	Gaa/Aaa	0	1	1	UPI000013D558	0	getma.org/pdb.php?prot=PYR1_HUMAN&from=1924&to=2066&var=E1971K	ENST00000264705		ENSG00000084774	1424		15	3.51		HGNC	p.E1971K		CAD		SNV							ENST00000264705	protein_coding	getma.org/?cm=var&var=hg19,2,27464806,G,A&fts=all		Gene3D:3.40.50.1370,HAMAP:MF_00001,Pfam_domain:PF02729,Prints_domain:PR00100,Prints_domain:PR00101,PROSITE_patterns:PS00097,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00670		E/K		A	high	6073/7265		getma.org/?cm=msa&ty=f&p=PYR1_HUMAN&rb=1924&re=2066&var=E1971K	deleterious(0)	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN			YES	CAD,missense_variant,p.Glu1971Lys,ENST00000264705,NM_004341.3;CAD,missense_variant,p.Glu1908Lys,ENST00000403525,;CAD,missense_variant,p.Glu7Lys,ENST00000428460,;CAD,missense_variant,p.Glu276Lys,ENST00000456311,;CAD,downstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000487239,;							MODERATE	5911/6678	E1971K	PYR1_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000264705		CCDS1742.1			1	
GABBR2	0	LGGM	GRCh37	9	101156490	101156490	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	24	11	.	.	ENST00000259455.2:c.1345C>G	p.Leu449Val	p.L449V	ENST00000259455	NM_005458.7	449	Ctg/Gtg	0	1	1	UPI0000035832	0	getma.org/pdb.php?prot=GABR2_HUMAN&from=428&to=490&var=L449V	ENST00000259455		ENSG00000136928	4507		35	2.35		HGNC	p.L449V		GABBR2		SNV							ENST00000259455	protein_coding	getma.org/?cm=var&var=hg19,9,101156490,G,C&fts=all		Prints_domain:PR01178,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34,Superfamily_domains:SSF53822		L/V		C	medium	1805/5761		getma.org/?cm=msa&ty=f&p=GABR2_HUMAN&rb=428&re=490&var=L449V	deleterious(0)	H9NIL8_HUMAN			YES	GABBR2,missense_variant,p.Leu449Val,ENST00000259455,NM_005458.7;							MODERATE	1345/2826	L449V	GABR2_HUMAN			Transcript		possibly_damaging(0.684)	.	ENSP00000259455		CCDS6736.1			1	
NLRP9	0	LGGM	GRCh37	19	56235457	56235457	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	21	11	.	.	ENST00000332836.2:c.2048A>G	p.His683Arg	p.H683R	ENST00000332836	NM_176820.2	683	cAc/cGc	0	1	1	UPI00001B6B39	0	getma.org/pdb.php?prot=NALP9_HUMAN&from=515&to=714&var=H683R	ENST00000332836		ENSG00000185792	22941		32	1.18		HGNC	p.H683R		NLRP9		SNV							ENST00000332836	protein_coding	getma.org/?cm=var&var=hg19,19,56235457,T,C&fts=all		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		H/R		C	low	2076/3484		getma.org/?cm=msa&ty=f&p=NALP9_HUMAN&rb=515&re=714&var=H683R	tolerated(0.26)				YES	NLRP9,missense_variant,p.His683Arg,ENST00000332836,NM_176820.2;NLRP9,missense_variant,p.His683Arg,ENST00000590200,;							MODERATE	2048/2976	H683R	NALP9_HUMAN			Transcript		possibly_damaging(0.816)	.	ENSP00000331857		CCDS12934.1			1	
SGPP1	0	LGGM	GRCh37	14	64153376	64153376	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	12	12	.	.	ENST00000247225.6:c.775-2A>T		p.X259_splice	ENST00000247225	NM_030791.2			0	1	1	UPI000006DEB2	0		ENST00000247225		ENSG00000126821	17720		24			HGNC	-		SGPP1		SNV							ENST00000247225	protein_coding							A		-/3312							YES	SGPP1,splice_acceptor_variant,,ENST00000247225,NM_030791.2;							HIGH	775/1326		SGPP1_HUMAN			Transcript			.	ENSP00000247225		CCDS9760.1			1	
PDZRN3	0	LGGM	GRCh37	3	73433742	73433742	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	18	12	.	.	ENST00000263666.4:c.1975G>C	p.Ala659Pro	p.A659P	ENST00000263666	NM_015009.1	659	Gcc/Ccc	0	1	1	UPI00001C1DE6	0	NA	ENST00000263666		ENSG00000121440	17704		30	1.265		HGNC	p.A376P		PDZRN3		SNV							ENST00000479530	protein_coding	getma.org/?cm=var&var=hg19,3,73433742,C,G&fts=all		hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545		A/P		G	low	2090/4248		getma.org/?cm=msa&ty=f&p=PZRN3_HUMAN&rb=502&re=701&var=A659P	tolerated(0.06)	E7ENB6_HUMAN			YES	PDZRN3,missense_variant,p.Ala659Pro,ENST00000263666,NM_015009.1;PDZRN3,missense_variant,p.Ala381Pro,ENST00000535920,;PDZRN3,missense_variant,p.Ala316Pro,ENST00000462146,;PDZRN3,missense_variant,p.Ala376Pro,ENST00000479530,;PDZRN3,missense_variant,p.Ala316Pro,ENST00000466780,;PDZRN3,missense_variant,p.Ala357Pro,ENST00000492909,;PDZRN3,intron_variant,,ENST00000494559,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;							MODERATE	1975/3201	A659P	PZRN3_HUMAN			Transcript		benign(0.001)	.	ENSP00000263666		CCDS33789.1			1	
PCYOX1L	0	LGGM	GRCh37	5	148747660	148747660	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	35	12	.	.	ENST00000274569.4:c.928A>T	p.Ser310Cys	p.S310C	ENST00000274569	NM_024028.3	310	Agc/Tgc	0	1	1	UPI0000049E12	0	NA	ENST00000274569		ENSG00000145882	28477		47	1.1		HGNC	p.S310C		PCYOX1L		SNV							ENST00000274569	protein_coding	getma.org/?cm=var&var=hg19,5,148747660,A,T&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF07156,PIRSF_domain:PIRSF036292,hmmpanther:PTHR15944,hmmpanther:PTHR15944:SF2,Superfamily_domains:SSF51905		S/C		T	low	990/2546		getma.org/?cm=msa&ty=f&p=PCYXL_HUMAN&rb=120&re=494&var=S310C	deleterious(0.05)	E7EVZ5_HUMAN			YES	PCYOX1L,missense_variant,p.Ser220Cys,ENST00000514349,;PCYOX1L,missense_variant,p.Ser310Cys,ENST00000274569,NM_024028.3;RP11-394O4.3,upstream_gene_variant,,ENST00000521756,;IL17B,downstream_gene_variant,,ENST00000518814,;PCYOX1L,3_prime_UTR_variant,,ENST00000511945,;PCYOX1L,3_prime_UTR_variant,,ENST00000505669,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000507621,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000503240,;PCYOX1L,downstream_gene_variant,,ENST00000510990,;							MODERATE	928/1485	S310C	PCYXL_HUMAN			Transcript		possibly_damaging(0.799)	.	ENSP00000274569		CCDS4296.1			1	
CNOT1	0	LGGM	GRCh37	16	58590809	58590809	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	21	12	.	.	ENST00000317147.5:c.2421G>A	p.Arg807=	p.R807=	ENST00000317147	NM_016284.4	807	agG/agA	0	1	1	UPI00001FF2F6	0		ENST00000317147		ENSG00000125107	7877		33			HGNC	p.R216R		CNOT1		SNV							ENST00000569882	protein_coding			hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162		R		T		2754/8471				H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN			YES	CNOT1,synonymous_variant,p.=,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,synonymous_variant,p.=,ENST00000569240,;CNOT1,synonymous_variant,p.=,ENST00000441024,NM_206999.2;CNOT1,synonymous_variant,p.=,ENST00000569882,;CNOT1,synonymous_variant,p.=,ENST00000562046,;SNORA50,downstream_gene_variant,,ENST00000384225,NR_002980.1;CNOT1,non_coding_transcript_exon_variant,,ENST00000569732,;CNOT1,synonymous_variant,p.=,ENST00000567188,;							LOW	2421/7131		CNOT1_HUMAN			Transcript			.	ENSP00000320949		CCDS10799.1			1	
HOXD3	0	LGGM	GRCh37	2	177034029	177034029	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	30	12	.	.	ENST00000468418.3:c.187T>A	p.Tyr63Asn	p.Y63N	ENST00000468418		63	Tat/Aat	0	1		UPI000013CC84	0	NA	ENST00000249440		ENSG00000128652	5137		42	2.6		HGNC	p.Y63N		HOXD3		SNV							ENST00000410016	protein_coding	getma.org/?cm=var&var=hg19,2,177034029,T,A&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF4		Y/N		A	medium	363/2303		getma.org/?cm=msa&ty=f&p=HXD3_HUMAN&rb=1&re=194&var=Y63N	deleterious(0)	C9J1M3_HUMAN				HOXD3,missense_variant,p.Tyr63Asn,ENST00000468418,;HOXD3,missense_variant,p.Tyr63Asn,ENST00000410016,;HOXD3,missense_variant,p.Tyr63Asn,ENST00000249440,NM_006898.4;HOXD3,missense_variant,p.Tyr63Asn,ENST00000432796,;HOXD-AS1,downstream_gene_variant,,ENST00000416928,;RP11-387A1.5,upstream_gene_variant,,ENST00000608941,;							MODERATE	187/1299	Y63N	HXD3_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000249440		CCDS2270.1			1	
ARFGEF1	0	LGGM	GRCh37	8	68131745	68131745	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	15	13	.	.	ENST00000262215.3:c.4259A>T	p.Glu1420Val	p.E1420V	ENST00000262215	NM_006421.4	1420	gAg/gTg	0	1	1	UPI000013D275	0	NA	ENST00000262215		ENSG00000066777	15772		28	1.245		HGNC	p.E1420V		ARFGEF1		SNV							ENST00000262215	protein_coding	getma.org/?cm=var&var=hg19,8,68131745,T,A&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Superfamily_domains:SSF48371		E/V		A	low	4649/7225		getma.org/?cm=msa&ty=f&p=BIG1_HUMAN&rb=1305&re=1504&var=E1420V	tolerated(0.09)	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN			YES	ARFGEF1,missense_variant,p.Glu1420Val,ENST00000262215,NM_006421.4;ARFGEF1,missense_variant,p.Glu874Val,ENST00000520381,;ARFGEF1,missense_variant,p.Glu258Val,ENST00000518230,;							MODERATE	4259/5550	E1420V	BIG1_HUMAN			Transcript		benign(0.206)	.	ENSP00000262215		CCDS6199.1			1	
KIAA2018	0	LGGM	GRCh37	3	113379360	113379360	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	28	13	.	.	ENST00000316407.4:c.1169C>T	p.Ser390Leu	p.S390L	ENST00000316407	NM_001009899.2	390	tCg/tTg	0	1	1	UPI00004800D8	0	NA	ENST00000316407		ENSG00000176542	30494	8.66E-05	41	0.805		HGNC	p.S390L	rs771133268	KIAA2018	0.000121	SNV				0.000102			ENST00000478658	protein_coding	getma.org/?cm=var&var=hg19,3,113379360,G,A&fts=all				S/L		A	low	1580/13708		getma.org/?cm=msa&ty=f&p=K2018_HUMAN&rb=271&re=470&var=S390L					YES	KIAA2018,missense_variant,p.Ser390Leu,ENST00000316407,NM_001009899.2;KIAA2018,missense_variant,p.Ser390Leu,ENST00000478658,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;	0.000348						MODERATE	1169/6738	S390L	K2018_HUMAN			Transcript		benign(0.113)	.	ENSP00000320794	5.79E-05	CCDS43133.1			1	
TSPYL5	0	LGGM	GRCh37	8	98289207	98289207	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	14	14	.	.	ENST00000322128.3:c.866G>T	p.Arg289Ile	p.R289I	ENST00000322128	NM_033512.2	289	aGa/aTa	0	1	1	UPI0000210364	0	getma.org/pdb.php?prot=TSYL5_HUMAN&from=199&to=385&var=R289I	ENST00000322128		ENSG00000180543	29367		28	2.3		HGNC	p.R289I		TSPYL5		SNV							ENST00000322128	protein_coding	getma.org/?cm=var&var=hg19,8,98289207,C,A&fts=all		hmmpanther:PTHR11875:SF30,hmmpanther:PTHR11875,Pfam_domain:PF00956,Superfamily_domains:SSF143113		R/I		A	medium	970/4460		getma.org/?cm=msa&ty=f&p=TSYL5_HUMAN&rb=199&re=385&var=R289I	deleterious(0)				YES	TSPYL5,missense_variant,p.Arg289Ile,ENST00000322128,NM_033512.2;							MODERATE	866/1254	R289I	TSYL5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322802		CCDS34927.1			1	
NES	0	LGGM	GRCh37	1	156639362	156639362	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	24	15	.	.	ENST00000368223.3:c.4618C>A	p.Pro1540Thr	p.P1540T	ENST00000368223	NM_006617.1	1540	Ccc/Acc	0	1	1	UPI0000213DC0	0	NA	ENST00000368223		ENSG00000132688	7756		39	1.895		HGNC	p.P1540T		NES		SNV							ENST00000368223	protein_coding	getma.org/?cm=var&var=hg19,1,156639362,G,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF131		P/T		T	low	4751/5558		getma.org/?cm=msa&ty=f&p=NEST_HUMAN&rb=871&re=1620&var=P1540T	deleterious(0)	Q2YDX4_HUMAN			YES	NES,missense_variant,p.Pro1540Thr,ENST00000368223,NM_006617.1;							MODERATE	4618/4866	P1540T	NEST_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000357206		CCDS1151.1			1	
PIK3CB	0	LGGM	GRCh37	3	138426130	138426130	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	20	15	.	.	ENST00000289153.2:c.1401T>A	p.Asp467Glu	p.D467E	ENST00000289153	NM_006219.2	467	gaT/gaA	0	1		UPI0000046842	0	getma.org/pdb.php?prot=PK3CB_HUMAN&from=347&to=500&var=D467E	ENST00000289153		ENSG00000051382	8976		35	1.585		HGNC	p.D16E		PIK3CB		SNV							ENST00000473435	protein_coding	getma.org/?cm=var&var=hg19,3,138426130,A,T&fts=all		Superfamily_domains:SSF49562,Gene3D:2.60.40.150,Pfam_domain:PF00792,hmmpanther:PTHR10048:SF33,hmmpanther:PTHR10048,PROSITE_profiles:PS51547		D/E		T	low	1401/3213		getma.org/?cm=msa&ty=f&p=PK3CB_HUMAN&rb=347&re=500&var=D467E	tolerated(0.11)	Q9BTS4_HUMAN,Q6PJ60_HUMAN,C9JYX0_HUMAN,C9JNF6_HUMAN,C9J345_HUMAN				PIK3CB,missense_variant,p.Asp467Glu,ENST00000477593,;PIK3CB,missense_variant,p.Asp467Glu,ENST00000289153,NM_006219.2;PIK3CB,missense_variant,p.Asp116Glu,ENST00000493568,;PIK3CB,intron_variant,,ENST00000544716,;PIK3CB,missense_variant,p.Asp16Glu,ENST00000473435,;PIK3CB,splice_region_variant,,ENST00000462898,;PIK3CB,non_coding_transcript_exon_variant,,ENST00000481749,;PIK3CB,intron_variant,,ENST00000469284,;							MODERATE	1401/3213	D467E	PK3CB_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000289153		CCDS3104.1			1	
GPR98	0	LGGM	GRCh37	5	90149933	90149933	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	40	15	.	.	ENST00000405460.2:c.17509G>A	p.Glu5837Lys	p.E5837K	ENST00000405460	NM_032119.3	5837	Gag/Aag	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		55	2.175		HGNC	p.E5837K		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90149933,G,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		E/K		A	medium	17605/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=5734&re=5851&var=E5837K					YES	GPR98,missense_variant,p.Glu5837Lys,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Glu1498Lys,ENST00000425867,;GPR98,non_coding_transcript_exon_variant,,ENST00000503852,;							MODERATE	17509/18921	E5837K	GPR98_HUMAN			Transcript		possibly_damaging(0.636)	.	ENSP00000384582		CCDS47246.1			1	
PLXND1	0	LGGM	GRCh37	3	129290087	129290087	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	18	16	.	.	ENST00000324093.4:c.3396C>A	p.Asn1132Lys	p.N1132K	ENST00000324093	NM_015103.2	1132	aaC/aaA	0	1	1	UPI00003671AD	0	NA	ENST00000324093		ENSG00000004399	9107		34	0.895		HGNC	p.N1132K		PLXND1		SNV			1				ENST00000324093	protein_coding	getma.org/?cm=var&var=hg19,3,129290087,G,T&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296		N/K		T	low	3575/7094		getma.org/?cm=msa&ty=f&p=PLXD1_HUMAN&rb=1069&re=1151&var=N1132K	tolerated(0.44)	Q6P657_HUMAN			YES	PLXND1,missense_variant,p.Asn1132Lys,ENST00000393239,;PLXND1,missense_variant,p.Asn1132Lys,ENST00000324093,NM_015103.2;PLXND1,non_coding_transcript_exon_variant,,ENST00000504767,;PLXND1,non_coding_transcript_exon_variant,,ENST00000511018,;PLXND1,upstream_gene_variant,,ENST00000514990,;PLXND1,downstream_gene_variant,,ENST00000515191,;PLXND1,downstream_gene_variant,,ENST00000505505,;							MODERATE	3396/5778	N1132K	PLXD1_HUMAN			Transcript		benign(0.258)	.	ENSP00000317128		CCDS33854.1			1	
LARP1	0	LGGM	GRCh37	5	154181828	154181828	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	10	16	.	.	ENST00000336314.4:c.1747G>T	p.Asp583Tyr	p.D583Y	ENST00000336314	NM_015315.4	583	Gac/Tac	0	1	1	UPI00001DFE1B	0	NA	ENST00000336314		ENSG00000155506	29531	8.64E-05	26	2.885		HGNC	p.D455Y	rs765076218	LARP1	0.000303	SNV							ENST00000524248	protein_coding	getma.org/?cm=var&var=hg19,5,154181828,G,T&fts=all		hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF51		D/Y		T	medium	1771/6595	3.00E-05	getma.org/?cm=msa&ty=f&p=LARP1_HUMAN&rb=484&re=1094&var=D660Y	deleterious(0)	E5RHK4_HUMAN,E5RH50_HUMAN			YES	LARP1,missense_variant,p.Asp583Tyr,ENST00000336314,NM_015315.4;LARP1,missense_variant,p.Asp660Tyr,ENST00000518297,;LARP1,missense_variant,p.Asp455Tyr,ENST00000524248,;LARP1,downstream_gene_variant,,ENST00000523163,;LARP1,upstream_gene_variant,,ENST00000518677,;LARP1,downstream_gene_variant,,ENST00000518742,;LARP1,upstream_gene_variant,,ENST00000522272,;LARP1,downstream_gene_variant,,ENST00000518595,;LARP1,upstream_gene_variant,,ENST00000519194,;							MODERATE	1747/3060	D660Y	LARP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336721	6.59E-05	CCDS4328.1			1	
KIAA1755	0	LGGM	GRCh37	20	36888706	36888706	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	15	16	.	.	ENST00000279024.4:c.3+194C>T		*1*	ENST00000279024	NM_001029864.1			0	1	1	UPI000041AADF	0		ENST00000279024		ENSG00000149633	29372		31			HGNC	p.D7N		KIAA1755		SNV							ENST00000418004	protein_coding							A		-/6429							YES	BPI,missense_variant,p.Asp7Asn,ENST00000451435,;BPI,missense_variant,p.Asp7Asn,ENST00000418004,;KIAA1755,intron_variant,,ENST00000279024,NM_001029864.1;BPI,non_coding_transcript_exon_variant,,ENST00000479646,;KIAA1755,intron_variant,,ENST00000496900,;							MODIFIER	-/3603		K1755_HUMAN			Transcript			.	ENSP00000279024		CCDS33467.1			1	
MS4A14	0	LGGM	GRCh37	11	60165447	60165447	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	9	16	.	.	ENST00000531783.1:c.261A>T	p.Ala87=	p.A87=	ENST00000531783	NM_001261828.1	87	gcA/gcT	0	1		UPI000013E636	0		ENST00000300187		ENSG00000166928	30706		25			HGNC	p.A87A		MS4A14		SNV							ENST00000526375	protein_coding			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Transmembrane_helices:TMhelix		A		T		538/2997				F6X344_HUMAN				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,synonymous_variant,p.=,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,,ENST00000530027,;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,;MS4A6E,downstream_gene_variant,,ENST00000532756,;							LOW	261/2040		M4A14_HUMAN			Transcript			.	ENSP00000300187		CCDS31569.1			1	
GPR98	0	LGGM	GRCh37	5	90021461	90021461	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	78	18	.	.	ENST00000405460.2:c.10149C>A	p.Ser3383=	p.S3383=	ENST00000405460	NM_032119.3	3383	tcC/tcA	0	1	1	UPI00002127A7	0		ENST00000405460		ENSG00000164199	17416		96			HGNC	p.S3383S		GPR98		SNV			1				ENST00000405460	protein_coding			PROSITE_profiles:PS50912,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		S		A		10245/19338							YES	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;GPR98,synonymous_variant,p.=,ENST00000509621,;							LOW	10149/18921		GPR98_HUMAN			Transcript			.	ENSP00000384582		CCDS47246.1			1	
NIN	0	LGGM	GRCh37	14	51190223	51190223	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	22	18	.	.				ENST00000382041	NM_016350.4			0	1	1	UPI0000DBEF14	0		ENST00000382041		ENSG00000100503	14906		40		2335	HGNC	p.L2120L		NIN		SNV			1				ENST00000245441	protein_coding							T		-/6496				H7C162_HUMAN,E9PJH9_HUMAN			YES	NIN,synonymous_variant,p.=,ENST00000245441,NM_020921.3;NIN,synonymous_variant,p.=,ENST00000530997,;NIN,3_prime_UTR_variant,,ENST00000389868,;NIN,downstream_gene_variant,,ENST00000453196,NM_182944.2;NIN,downstream_gene_variant,,ENST00000324330,;NIN,downstream_gene_variant,,ENST00000382041,NM_016350.4,NM_182946.1;NIN,downstream_gene_variant,,ENST00000530853,;NIN,downstream_gene_variant,,ENST00000389869,;NIN,downstream_gene_variant,,ENST00000382043,;RP11-248J18.3,downstream_gene_variant,,ENST00000602615,;NIN,3_prime_UTR_variant,,ENST00000476352,;NIN,non_coding_transcript_exon_variant,,ENST00000555984,;NIN,downstream_gene_variant,,ENST00000485005,;							MODIFIER	-/6273		NIN_HUMAN			Transcript			.	ENSP00000371472		CCDS32079.1			1	
DTNB	0	LGGM	GRCh37	2	25678338	25678338	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	6	19	.	.	ENST00000406818.3:c.1105A>T	p.Ser369Cys	p.S369C	ENST00000406818	NM_001256303.1	369	Agt/Tgt	0	1	1	UPI0000129949	0	NA	ENST00000406818		ENSG00000138101	3058		25	1.7		HGNC	p.S369C		DTNB		SNV							ENST00000406818	protein_coding	getma.org/?cm=var&var=hg19,2,25678338,T,A&fts=all		PIRSF_domain:PIRSF038204,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF227		S/C		A	low	1355/2474		getma.org/?cm=msa&ty=f&p=DTNB_HUMAN&rb=283&re=473&var=S369C	deleterious(0.02)	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN			YES	DTNB,missense_variant,p.Ser369Cys,ENST00000406818,NM_001256303.1,NM_021907.4;DTNB,missense_variant,p.Ser369Cys,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,missense_variant,p.Ser369Cys,ENST00000404103,NM_033147.3;DTNB,missense_variant,p.Ser369Cys,ENST00000288642,;DTNB,missense_variant,p.Ser312Cys,ENST00000496972,NM_001256308.1;DTNB,missense_variant,p.Ser165Cys,ENST00000545439,;DTNB,intron_variant,,ENST00000407038,NM_033148.3;DTNB,intron_variant,,ENST00000407186,;DTNB,intron_variant,,ENST00000405222,NM_183361.2;DTNB,intron_variant,,ENST00000489756,;DTNB,intron_variant,,ENST00000481841,;DTNB,intron_variant,,ENST00000486555,;DTNB,3_prime_UTR_variant,,ENST00000398951,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000479898,;DTNB,intron_variant,,ENST00000356599,;DTNB,intron_variant,,ENST00000482145,;							MODERATE	1105/1884	S369C	DTNB_HUMAN			Transcript		benign(0.246)	.	ENSP00000384084		CCDS46237.1			1	
FABP12	0	LGGM	GRCh37	8	82437292	82437292	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	21	20	.	.	ENST00000360464.4:c.412T>A	p.Ser138Thr	p.S138T	ENST00000360464	NM_001105281.1	138	Tca/Aca	0	1	1	UPI00001B2E3D	0	getma.org/pdb.php?prot=FBP12_HUMAN&from=133&to=140&var=S138T	ENST00000360464		ENSG00000197416	34524		41	-0.345		HGNC	p.S138T		FABP12		SNV							ENST00000360464	protein_coding	getma.org/?cm=var&var=hg19,8,82437292,A,T&fts=all				S/T		T	neutral	475/551		getma.org/?cm=msa&ty=f&p=FBP12_HUMAN&rb=103&re=140&var=S138T	deleterious_low_confidence(0.02)				YES	FABP12,missense_variant,p.Ser138Thr,ENST00000360464,NM_001105281.1;RP11-257P3.3,intron_variant,,ENST00000523380,;RP11-257P3.3,intron_variant,,ENST00000518637,;RP11-157I4.4,downstream_gene_variant,,ENST00000524085,;FABP12,3_prime_UTR_variant,,ENST00000519696,;FTH1P11,upstream_gene_variant,,ENST00000517577,;							MODERATE	412/423	S138T	FBP12_HUMAN			Transcript		benign(0.039)	.	ENSP00000353650		CCDS47882.1			1	
ZNF276	0	LGGM	GRCh37	16	89789192	89789192	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	50	21	.	.	ENST00000443381.2:c.459C>T	p.Phe153=	p.F153=	ENST00000443381	NM_001113525.1	153	ttC/ttT	0	1	1	UPI0000EE7D9C	0		ENST00000443381		ENSG00000158805	23330		71			HGNC	p.F153F		ZNF276		SNV							ENST00000568295	protein_coding			Pfam_domain:PF07776,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF340		F		T		556/2267							YES	ZNF276,synonymous_variant,p.=,ENST00000289816,NM_152287.3;ZNF276,synonymous_variant,p.=,ENST00000443381,NM_001113525.1;ZNF276,synonymous_variant,p.=,ENST00000568064,;ZNF276,5_prime_UTR_variant,,ENST00000446326,;VPS9D1,upstream_gene_variant,,ENST00000561976,;VPS9D1,upstream_gene_variant,,ENST00000389386,NM_004913.2;VPS9D1-AS1,downstream_gene_variant,,ENST00000562866,;VPS9D1-AS1,downstream_gene_variant,,ENST00000562298,;ZNF276,synonymous_variant,p.=,ENST00000568295,;ZNF276,synonymous_variant,p.=,ENST00000562530,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,upstream_gene_variant,,ENST00000561536,;ZNF276,upstream_gene_variant,,ENST00000563541,;VPS9D1,upstream_gene_variant,,ENST00000563798,;ZNF276,upstream_gene_variant,,ENST00000569426,;							LOW	459/1845		ZN276_HUMAN			Transcript			.	ENSP00000415836		CCDS45554.1			1	
MISP	0	LGGM	GRCh37	19	758433	758433	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	11	21	.	.	ENST00000215582.6:c.1487G>A	p.Arg496Lys	p.R496K	ENST00000215582	NM_173481.2	496	aGg/aAg	0	1	1	UPI00000745CD	0	NA	ENST00000215582		ENSG00000099812	27000		32	1.1		HGNC	p.R496K		MISP		SNV							ENST00000215582	protein_coding	getma.org/?cm=var&var=hg19,19,758433,G,A&fts=all		hmmpanther:PTHR18839:SF2,hmmpanther:PTHR18839,Pfam_domain:PF15304		R/K		A	low	1590/2872		getma.org/?cm=msa&ty=f&p=CS021_HUMAN&rb=1&re=677&var=R496K	tolerated(1)				YES	MISP,missense_variant,p.Arg496Lys,ENST00000215582,NM_173481.2;							MODERATE	1487/2040	R496K	MISP_HUMAN			Transcript		benign(0.054)	.	ENSP00000215582		CCDS12042.1			1	
AIM2	0	LGGM	GRCh37	1	159043138	159043138	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	31	21	.	.	ENST00000368130.4:c.152T>A	p.Leu51Ter	p.L51*	ENST00000368130	NM_004833.1	51	tTg/tAg	0	1	1	UPI000012573B	0	NA	ENST00000368130		ENSG00000163568	357		52	0		HGNC	p.L51X		AIM2		SNV							ENST00000368130	protein_coding	getma.org/?cm=var&var=hg19,1,159043138,A,T&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF17,Superfamily_domains:SSF47986		L/*		T	NA	441/1529		NA		Q5T3W0_HUMAN,Q5T3V8_HUMAN			YES	AIM2,stop_gained,p.Leu51Ter,ENST00000368130,NM_004833.1;AIM2,intron_variant,,ENST00000368129,;AIM2,non_coding_transcript_exon_variant,,ENST00000411768,;AIM2,upstream_gene_variant,,ENST00000481829,;							HIGH	152/1032	L51*	AIM2_HUMAN			Transcript			.	ENSP00000357112		CCDS1181.1			1	
PIGG	0	LGGM	GRCh37	4	499549	499549	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	14	24	.	.	ENST00000453061.2:c.403A>T	p.Arg135Trp	p.R135W	ENST00000453061	NM_001127178.1	135	Agg/Tgg	0	1	1	UPI00004C7A82	0	getma.org/pdb.php?prot=PIGG_HUMAN&from=68&to=323&var=R135W	ENST00000453061		ENSG00000174227	25985		38	0.345		HGNC	p.R46W		PIGG		SNV							ENST00000504346	protein_coding	getma.org/?cm=var&var=hg19,4,499549,A,T&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR23072,hmmpanther:PTHR23072:SF0,Superfamily_domains:SSF53649		R/W		T	neutral	509/3218		getma.org/?cm=msa&ty=f&p=PIGG_HUMAN&rb=68&re=323&var=R135W	deleterious(0.02)	E7EWV1_HUMAN,D6RC16_HUMAN			YES	PIGG,missense_variant,p.Arg135Trp,ENST00000453061,NM_001127178.1;PIGG,missense_variant,p.Arg135Trp,ENST00000310340,NM_017733.3;PIGG,missense_variant,p.Arg46Trp,ENST00000509768,;PIGG,missense_variant,p.Arg46Trp,ENST00000296306,;PIGG,missense_variant,p.Arg46Trp,ENST00000504346,;PIGG,missense_variant,p.Arg46Trp,ENST00000503111,;PIGG,missense_variant,p.Arg13Trp,ENST00000536264,;PIGG,intron_variant,,ENST00000383028,;PIGG,downstream_gene_variant,,ENST00000502311,;PIGG,downstream_gene_variant,,ENST00000514953,;PIGG,missense_variant,p.Arg135Trp,ENST00000506402,;PIGG,missense_variant,p.Gln158Leu,ENST00000504187,;PIGG,missense_variant,p.Arg135Trp,ENST00000511448,;							MODERATE	403/2952	R135W	PIGG_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000415203		CCDS46992.1			1	
MFI2	0	LGGM	GRCh37	3	196753569	196753569	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	25	24	.	.	ENST00000296350.5:c.266A>T	p.His89Leu	p.H89L	ENST00000296350	NM_005929.5	89	cAc/cTc	0	1	1	UPI000013E329	0	getma.org/pdb.php?prot=TRFM_HUMAN&from=23&to=357&var=H89L	ENST00000296350		ENSG00000163975	7037		49	1.555		HGNC	p.H89L		MFI2		SNV							ENST00000439320	protein_coding	getma.org/?cm=var&var=hg19,3,196753569,T,A&fts=all		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		H/L		A	low	380/3963		getma.org/?cm=msa&ty=f&p=TRFM_HUMAN&rb=23&re=357&var=H89L	tolerated(0.18)				YES	MFI2,missense_variant,p.His89Leu,ENST00000296350,NM_005929.5;MFI2,missense_variant,p.His89Leu,ENST00000296351,NM_033316.3;MFI2,missense_variant,p.His89Leu,ENST00000439320,;MFI2,non_coding_transcript_exon_variant,,ENST00000473501,;MFI2,non_coding_transcript_exon_variant,,ENST00000491399,;MFI2,upstream_gene_variant,,ENST00000489445,;							MODERATE	266/2217	H89L	TRFM_HUMAN			Transcript		benign(0.009)	.	ENSP00000296350		CCDS3325.1			1	
VCAN	0	LGGM	GRCh37	5	82834389	82834389	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	50	26	.	.	ENST00000265077.3:c.5567T>G	p.Val1856Gly	p.V1856G	ENST00000265077	NM_004385.4	1856	gTa/gGa	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		76	0.55		HGNC	p.V869G		VCAN		SNV			1				ENST00000513960	protein_coding	getma.org/?cm=var&var=hg19,5,82834389,T,G&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		V/G		G	neutral	6132/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=441&re=2065&var=V1856G	tolerated(0.23)				YES	VCAN,missense_variant,p.Val1856Gly,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Val869Gly,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Val869Gly,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	5567/10191	V1856G	CSPG2_HUMAN			Transcript		benign(0.001)	.	ENSP00000265077		CCDS4060.1			1	
CYP4B1	0	LGGM	GRCh37	1	47282772	47282772	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	25	27	.	.	ENST00000371923.4:c.1126C>A	p.Arg376Ser	p.R376S	ENST00000371923	NM_001099772.1	376	Cgc/Agc	0	1		UPI000013D8C5	0	getma.org/pdb.php?prot=CP4B1_HUMAN&from=46&to=501&var=R375S	ENST00000271153		ENSG00000142973	2644		52	3.725		HGNC	p.R376S	COSM3677715	CYP4B1		SNV						1	ENST00000371923	protein_coding	getma.org/?cm=var&var=hg19,1,47282772,C,A&fts=all		hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF43,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385		R/S		A	high	1159/2171		getma.org/?cm=msa&ty=f&p=CP4B1_HUMAN&rb=46&re=501&var=R375S	deleterious(0)	F5H6F1_HUMAN,B4DV41_HUMAN				CYP4B1,missense_variant,p.Arg375Ser,ENST00000271153,;CYP4B1,missense_variant,p.Arg376Ser,ENST00000371923,NM_001099772.1,NM_000779.3;CYP4B1,missense_variant,p.Arg361Ser,ENST00000371919,;CYP4B1,missense_variant,p.Arg213Ser,ENST00000452782,;CYP4B1,missense_variant,p.Arg212Ser,ENST00000468637,;CYP4B1,downstream_gene_variant,,ENST00000526297,;CYP4B1,non_coding_transcript_exon_variant,,ENST00000497005,;CYP4B1,3_prime_UTR_variant,,ENST00000464439,;CYP4B1,3_prime_UTR_variant,,ENST00000534708,;CYP4B1,non_coding_transcript_exon_variant,,ENST00000481248,;CYP4B1,downstream_gene_variant,,ENST00000529715,;					1		MODERATE	1123/1536	R375S	CP4B1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000271153		CCDS542.1			1	
ATOSA	0	LGGM	GRCh37	15	52901169	52901169	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	44	27	.	.	ENST00000261844.7:c.1942G>C	p.Asp648His	p.D648H	ENST00000261844	NM_019600.2	648	Gac/Cac	0	1	1	UPI00001C1F8D	0	NA	ENST00000261844		ENSG00000047346	25609		71	1.525		HGNC	p.D648H		FAM214A		SNV							ENST00000534964	protein_coding	getma.org/?cm=var&var=hg19,15,52901169,C,G&fts=all		hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF13		D/H		G	low	2095/4217		getma.org/?cm=msa&ty=f&p=F214A_HUMAN&rb=601&re=800&var=D648H	deleterious(0.04)	Q6DKH7_HUMAN,Q658Z0_HUMAN,H3BUJ2_HUMAN,H3BU00_HUMAN,H3BTD0_HUMAN,H3BSJ2_HUMAN,H3BQ29_HUMAN,H0Y3Q9_HUMAN			YES	FAM214A,missense_variant,p.Asp648His,ENST00000261844,NM_019600.2;FAM214A,missense_variant,p.Asp655His,ENST00000546305,NM_001286495.1;FAM214A,missense_variant,p.Asp560His,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,missense_variant,p.Asp648His,ENST00000534964,;FAM214A,upstream_gene_variant,,ENST00000566948,;FAM214A,upstream_gene_variant,,ENST00000568668,;FAM214A,upstream_gene_variant,,ENST00000570204,;							MODERATE	1942/3231	D648H	F214A_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000261844		CCDS45263.1			1	
KIAA1377	0	LGGM	GRCh37	11	101834006	101834006	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	19	28	.	.	ENST00000263468.8:c.2240G>T	p.Gly747Val	p.G747V	ENST00000263468	NM_020802.2	747	gGt/gTt	0	1	1	UPI0000160A3D	0	NA	ENST00000263468		ENSG00000110318	29264		47	0.69		HGNC	p.G747V		KIAA1377		SNV			1				ENST00000263468	protein_coding	getma.org/?cm=var&var=hg19,11,101834006,G,T&fts=all		Pfam_domain:PF15352,hmmpanther:PTHR31191		G/V		T	neutral	2510/7039		getma.org/?cm=msa&ty=f&p=K1377_HUMAN&rb=41&re=1101&var=G747V	tolerated(0.28)	F5H5S1_HUMAN			YES	KIAA1377,missense_variant,p.Gly747Val,ENST00000263468,NM_020802.2;KIAA1377,missense_variant,p.Gly548Val,ENST00000537689,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;							MODERATE	2240/3354	G747V	K1377_HUMAN			Transcript		benign(0.009)	.	ENSP00000263468		CCDS31658.1			1	
DHX8	0	LGGM	GRCh37	17	41599535	41599535	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	14	28	.	.	ENST00000262415.3:c.3384C>T	p.Ile1128=	p.I1128=	ENST00000262415	NM_004941.1	1128	atC/atT	0	1	1	UPI00001290D9	0		ENST00000262415		ENSG00000067596	2749	0.00026	42			HGNC	p.R6X	rs754975019	DHX8		SNV							ENST00000587574	protein_coding			Pfam_domain:PF07717,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF85,Superfamily_domains:SSF52540		I		T		3456/5558	1.51E-05						YES	DHX8,synonymous_variant,p.=,ENST00000262415,NM_004941.1;DHX8,synonymous_variant,p.=,ENST00000540306,;DHX8,synonymous_variant,p.=,ENST00000589898,;DHX8,synonymous_variant,p.=,ENST00000587574,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;							LOW	3384/3663		DHX8_HUMAN			Transcript			.	ENSP00000262415	3.29E-05	CCDS11464.1			1	
MECOM	0	LGGM	GRCh37	3	168834317	168834317	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	37	29	.	.	ENST00000264674.3:c.974C>T	p.Thr325Ile	p.T325I	ENST00000264674	NM_001105077.3	325	aCc/aTc	0	1		UPI000013D551	0	NA	ENST00000468789		ENSG00000085276	3498		66	0.69		HGNC	p.T325I		MECOM		SNV			1				ENST00000264674	protein_coding	getma.org/?cm=var&var=hg19,3,168834317,G,A&fts=all		hmmpanther:PTHR24393		T/I		A	neutral	1167/3691		getma.org/?cm=msa&ty=f&p=EVI1_HUMAN&rb=240&re=439&var=T260I	deleterious(0.01)	Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,missense_variant,p.Thr260Ile,ENST00000464456,NM_001164000.1;MECOM,missense_variant,p.Thr325Ile,ENST00000264674,NM_001105077.3;MECOM,missense_variant,p.Thr260Ile,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,missense_variant,p.Thr448Ile,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Thr260Ile,ENST00000468789,NM_001105078.3;MECOM,missense_variant,p.Thr261Ile,ENST00000472280,;MECOM,missense_variant,p.Thr261Ile,ENST00000433243,;MECOM,missense_variant,p.Thr260Ile,ENST00000460814,;MECOM,intron_variant,,ENST00000492586,;MECOM,downstream_gene_variant,,ENST00000461430,;							MODERATE	779/3156	T260I	EVI1_HUMAN			Transcript		possibly_damaging(0.71)	.	ENSP00000419995		CCDS3205.1			1	
PALB2	0	LGGM	GRCh37	16	23646816	23646816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	53	30	.	.	ENST00000261584.4:c.1051A>G	p.Thr351Ala	p.T351A	ENST00000261584	NM_024675.3	351	Aca/Gca	0	1	1	UPI000000DA86	0	NA	ENST00000261584		ENSG00000083093	26144		83	0.92		HGNC	p.T351A		PALB2		SNV			1				ENST00000261584	protein_coding	getma.org/?cm=var&var=hg19,16,23646816,T,C&fts=all		hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662		T/A		C	low	1204/4003		getma.org/?cm=msa&ty=f&p=PALB2_HUMAN&rb=1&re=1184&var=T351A	tolerated(0.19)				YES	PALB2,missense_variant,p.Thr351Ala,ENST00000261584,NM_024675.3;PALB2,downstream_gene_variant,,ENST00000561514,;PALB2,3_prime_UTR_variant,,ENST00000568219,;PALB2,intron_variant,,ENST00000565038,;PALB2,downstream_gene_variant,,ENST00000567003,;							MODERATE	1051/3561	T351A	PALB2_HUMAN			Transcript		benign(0.02)	.	ENSP00000261584		CCDS32406.1			1	
DNAH5	0	LGGM	GRCh37	5	13866336	13866336	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	21	30	.	.	ENST00000265104.4:c.4109T>C	p.Met1370Thr	p.M1370T	ENST00000265104	NM_001369.2	1370	aTg/aCg	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		51	1.905		HGNC	p.M1370T		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13866336,A,G&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		M/T		G	medium	4214/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1205&re=1399&var=M1370T		O95496_HUMAN			YES	DNAH5,missense_variant,p.Met1370Thr,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							MODERATE	4109/13875	M1370T	DYH5_HUMAN			Transcript		benign(0.042)	.	ENSP00000265104		CCDS3882.1			1	
SPATA18	0	LGGM	GRCh37	4	52944968	52944968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	23	31	.	.	ENST00000295213.4:c.1088C>T	p.Pro363Leu	p.P363L	ENST00000295213	NM_145263.2	363	cCa/cTa	0	1	1	UPI000006FB0D	0	NA	ENST00000295213		ENSG00000163071	29579		54	1.845		HGNC	p.P363L		SPATA18		SNV							ENST00000505320	protein_coding	getma.org/?cm=var&var=hg19,4,52944968,C,T&fts=all		hmmpanther:PTHR21771,hmmpanther:PTHR21771:SF0		P/L		T	low	1462/4396		getma.org/?cm=msa&ty=f&p=MIEAP_HUMAN&rb=291&re=537&var=P363L	tolerated(0.28)				YES	SPATA18,missense_variant,p.Pro363Leu,ENST00000295213,NM_145263.2;SPATA18,missense_variant,p.Pro331Leu,ENST00000419395,;SPATA18,downstream_gene_variant,,ENST00000514670,;SPATA18,missense_variant,p.Pro363Leu,ENST00000505320,;SPATA18,non_coding_transcript_exon_variant,,ENST00000511028,;SPATA18,non_coding_transcript_exon_variant,,ENST00000510549,;							MODERATE	1088/1617	P363L	MIEAP_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000295213		CCDS3489.1			1	
SLC22A25	0	LGGM	GRCh37	11	62931313	62931313	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	20	31	.	.	ENST00000306494.6:c.1627A>T	p.Arg543Trp	p.R543W	ENST00000306494	NM_199352.3	543	Agg/Tgg	0	1	1	UPI00001A72A5	0	NA	ENST00000306494		ENSG00000196600	32935		51	0.695		HGNC	p.R543W		SLC22A25		SNV							ENST00000306494	protein_coding	getma.org/?cm=var&var=hg19,11,62931313,T,A&fts=all		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185		R/W		A	neutral	1627/1692		getma.org/?cm=msa&ty=f&p=S22AP_HUMAN&rb=485&re=547&var=R543W	deleterious(0)				YES	SLC22A25,missense_variant,p.Arg543Trp,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,;							MODERATE	1627/1644	R543W	S22AP_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000307443		CCDS31592.1			1	
CYP2C8	0	LGGM	GRCh37	10	96827010	96827010	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	35	33	.	.	ENST00000371270.3:c.436C>A	p.Gln146Lys	p.Q146K	ENST00000371270	NM_000770.3	146	Caa/Aaa	0	1	1	UPI0000128256	0	getma.org/pdb.php?prot=CP2C8_HUMAN&from=30&to=487&var=Q146K	ENST00000371270		ENSG00000138115	2622		68	2.235		HGNC	p.Q146K		CYP2C8		SNV			1				ENST00000527420	protein_coding	getma.org/?cm=var&var=hg19,10,96827010,G,T&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Superfamily_domains:SSF48264		Q/K		T	medium	531/1923		getma.org/?cm=msa&ty=f&p=CP2C8_HUMAN&rb=30&re=487&var=Q146K	deleterious(0.03)	B7Z1F5_HUMAN			YES	CYP2C8,missense_variant,p.Gln146Lys,ENST00000371270,NM_000770.3,NM_001198855.1,NM_001198853.1;CYP2C8,missense_variant,p.Gln44Lys,ENST00000535898,NM_001198854.1;CYP2C8,missense_variant,p.Gln60Lys,ENST00000539050,;CYP2C8,missense_variant,p.Gln146Lys,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;							MODERATE	436/1473	Q146K	CP2C8_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000360317		CCDS7438.1			1	
NLRP11	0	LGGM	GRCh37	19	56320357	56320357	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	30	33	.	.	ENST00000443188.1:c.1619C>T	p.Thr540Met	p.T540M	ENST00000443188	NM_145007.3	540	aCg/aTg	0	1		UPI000013ED9D	0	getma.org/pdb.php?prot=NAL11_HUMAN&from=517&to=716&var=T540M	ENST00000589093		ENSG00000179873	22945		63	0.69		HGNC	p.T540M	rs374796362,COSM269724	NLRP11		SNV	A:0					0,1	ENST00000593244	protein_coding	getma.org/?cm=var&var=hg19,19,56320357,G,A&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62		T/M	A:0.0001	A	neutral	1713/3417	0.00012	getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=517&re=716&var=T540M	deleterious(0.02)	K7ESF9_HUMAN				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,;					0,1		MODERATE	1619/3102	T540M	NAL11_HUMAN			Transcript		benign(0.178)	.	ENSP00000466285	6.59E-05	CCDS12935.1			1	
LIPI	0	LGGM	GRCh37	21	15561573	15561573	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	33	33	.	.	ENST00000344577.2:c.277A>T	p.Thr93Ser	p.T93S	ENST00000344577	NM_198996.2	93	Aca/Tca	0	1	1	UPI000015F82D	0	getma.org/pdb.php?prot=LIPI_HUMAN&from=8&to=334&var=T72S	ENST00000344577		ENSG00000188992	18821		66	0.55		HGNC	p.T72S		LIPI		SNV			1				ENST00000536861	protein_coding	getma.org/?cm=var&var=hg19,21,15561573,T,A&fts=all		hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821		T/S		A	neutral	303/1652		getma.org/?cm=msa&ty=f&p=LIPI_HUMAN&rb=8&re=334&var=T72S	deleterious(0.02)				YES	LIPI,missense_variant,p.Thr93Ser,ENST00000344577,NM_198996.2;LIPI,missense_variant,p.Thr72Ser,ENST00000536861,;LIPI,upstream_gene_variant,,ENST00000400211,;							MODERATE	277/1446	T72S	LIPI_HUMAN			Transcript		benign(0.268)	.	ENSP00000343331		CCDS13564.1			1	
STYK1	0	LGGM	GRCh37	12	10777280	10777280	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	56	34	.	.	ENST00000075503.3:c.896T>A	p.Leu299His	p.L299H	ENST00000075503	NM_018423.2	299	cTc/cAc	0	1	1	UPI000013C57C	0	getma.org/pdb.php?prot=STYK1_HUMAN&from=114&to=380&var=L299H	ENST00000075503		ENSG00000060140	18889		90	1.51		HGNC	p.L299H		STYK1		SNV							ENST00000075503	protein_coding	getma.org/?cm=var&var=hg19,12,10777280,A,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF216,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112		L/H		T	low	1417/2995		getma.org/?cm=msa&ty=f&p=STYK1_HUMAN&rb=114&re=380&var=L299H	deleterious(0)	F5H4G3_HUMAN,F5H366_HUMAN,F5H2I9_HUMAN			YES	STYK1,missense_variant,p.Leu299His,ENST00000075503,NM_018423.2;STYK1,downstream_gene_variant,,ENST00000542924,;							MODERATE	896/1269	L299H	STYK1_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000075503		CCDS8629.1			1	
SMURF2	0	LGGM	GRCh37	17	62594588	62594588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	28	34	.	.	ENST00000262435.9:c.112A>G	p.Lys38Glu	p.K38E	ENST00000262435	NM_022739.3	38	Aag/Gag	0	1	1	UPI00001361C5	0	getma.org/pdb.php?prot=SMUF2_HUMAN&from=14&to=98&var=K38E	ENST00000262435		ENSG00000108854	16809		62	2.185		HGNC	p.K25E		SMURF2		SNV							ENST00000585301	protein_coding	getma.org/?cm=var&var=hg19,17,62594588,T,C&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50004,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF300,SMART_domains:SM00239,Superfamily_domains:SSF49562		K/E		C	medium	300/2918		getma.org/?cm=msa&ty=f&p=SMUF2_HUMAN&rb=14&re=98&var=K38E	tolerated(0.07)	Q96DE7_HUMAN			YES	SMURF2,missense_variant,p.Lys38Glu,ENST00000262435,NM_022739.3;SMURF2,missense_variant,p.Lys25Glu,ENST00000585301,;SMURF2,intron_variant,,ENST00000578200,;SMURF2,missense_variant,p.Lys25Glu,ENST00000582081,;SMURF2,missense_variant,p.Lys38Glu,ENST00000578386,;SMURF2,upstream_gene_variant,,ENST00000580246,;							MODERATE	112/2247	K38E	SMUF2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262435		CCDS32707.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43860468	43860468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	29	36	.	.	ENST00000389420.3:c.1354A>T	p.Thr452Ser	p.T452S	ENST00000389420	NM_025003.3	452	Act/Tct	0	1	1	UPI00004565F4	0	getma.org/pdb.php?prot=ATS20_HUMAN&from=259&to=467&var=T452S	ENST00000389420		ENSG00000173157	17178		65	1.945		HGNC	p.T452S		ADAMTS20		SNV							ENST00000389420	protein_coding	getma.org/?cm=var&var=hg19,12,43860468,T,A&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		T/S		A	medium	1354/6076		getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=259&re=467&var=T452S	deleterious(0.04)				YES	ADAMTS20,missense_variant,p.Thr452Ser,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Thr452Ser,ENST00000553158,;							MODERATE	1354/5733	T452S	ATS20_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000374071		CCDS31778.2			1	
MUC4	0	LGGM	GRCh37	3	195517293	195517293	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	64	37	.	.	ENST00000463781.3:c.1158A>T	p.Thr386=	p.T386=	ENST00000463781	NM_018406.6	386	acA/acT	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		101			HGNC	p.T386T		MUC4		SNV							ENST00000477086	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,Low_complexity_(Seg):seg		T		A		1618/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;							LOW	1158/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
KYNU	0	LGGM	GRCh37	2	143685287	143685287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	19	40	.	.	ENST00000264170.4:c.350T>C	p.Val117Ala	p.V117A	ENST00000264170	NM_003937.2	117	gTa/gCa	0	1	1	UPI000012E176	0	getma.org/pdb.php?prot=KYNU_HUMAN&from=69&to=405&var=V117A	ENST00000264170		ENSG00000115919	6469		59	0.345		HGNC	p.X77Q		KYNU		SNV			1				ENST00000424385	protein_coding	getma.org/?cm=var&var=hg19,2,143685287,T,C&fts=all		HAMAP:MF_01970,PIRSF_domain:PIRSF038800,hmmpanther:PTHR14084,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01814		V/A		C	neutral	608/1805		getma.org/?cm=msa&ty=f&p=KYNU_HUMAN&rb=69&re=405&var=V117A	tolerated(0.7)	Q53SY0_HUMAN,Q53SX6_HUMAN			YES	KYNU,missense_variant,p.Val117Ala,ENST00000264170,NM_003937.2;KYNU,missense_variant,p.Val117Ala,ENST00000409512,NM_001199241.1;KYNU,missense_variant,p.Val117Ala,ENST00000375773,NM_001032998.1;KYNU,missense_variant,p.Val117Ala,ENST00000410015,;KYNU,stop_lost,p.Ter77GlnextTer3,ENST00000424385,;KYNU,non_coding_transcript_exon_variant,,ENST00000460143,;							MODERATE	350/1398	V117A	KYNU_HUMAN			Transcript		benign(0.01)	.	ENSP00000264170		CCDS2183.1			1	
GNL3	0	LGGM	GRCh37	3	52721342	52721342	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	43	41	.	.	ENST00000418458.1:c.153A>T	p.Pro51=	p.P51=	ENST00000418458	NM_014366.4	51	ccA/ccT	0	1	1	UPI000003C48A	0		ENST00000418458		ENSG00000163938	29931		84			HGNC	p.P51P		GNL3		SNV							ENST00000418458	protein_coding			Pfam_domain:PF08701,hmmpanther:PTHR11089,hmmpanther:PTHR11089:SF11		P		T		326/2040				C9JZT7_HUMAN,C9JYH9_HUMAN			YES	GNL3,synonymous_variant,p.=,ENST00000394799,NM_206825.1;GNL3,synonymous_variant,p.=,ENST00000418458,NM_014366.4,NM_206826.1;GNL3,synonymous_variant,p.=,ENST00000474423,;GNL3,synonymous_variant,p.=,ENST00000479230,;PBRM1,upstream_gene_variant,,ENST00000394830,NM_018313.4;PBRM1,upstream_gene_variant,,ENST00000431678,;PBRM1,upstream_gene_variant,,ENST00000420148,;PBRM1,upstream_gene_variant,,ENST00000439181,;PBRM1,upstream_gene_variant,,ENST00000449505,;PBRM1,upstream_gene_variant,,ENST00000450271,;PBRM1,upstream_gene_variant,,ENST00000458294,;PBRM1,upstream_gene_variant,,ENST00000424867,;SNORD19B,upstream_gene_variant,,ENST00000459623,NR_003687.1;SNORD19B,upstream_gene_variant,,ENST00000516978,;SNORD19,upstream_gene_variant,,ENST00000410413,;SNORD19,upstream_gene_variant,,ENST00000391191,NR_003047.1;GNL3,non_coding_transcript_exon_variant,,ENST00000460073,;GNL3,non_coding_transcript_exon_variant,,ENST00000468146,;GNL3,synonymous_variant,p.=,ENST00000492349,;GNL3,non_coding_transcript_exon_variant,,ENST00000496254,;GNL3,non_coding_transcript_exon_variant,,ENST00000462550,;GNL3,upstream_gene_variant,,ENST00000484022,;GNL3,downstream_gene_variant,,ENST00000468885,;							LOW	153/1650		GNL3_HUMAN			Transcript			.	ENSP00000395772		CCDS2861.1			1	
RYR2	0	LGGM	GRCh37	1	237936942	237936942	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	41	41	.	.	ENST00000366574.2:c.11769T>A	p.Tyr3923Ter	p.Y3923*	ENST00000366574	NM_001035.2	3923	taT/taA	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		82	0		HGNC	p.Y3907X		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237936942,T,A&fts=all		Pfam_domain:PF08454,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		Y/*		A	NA	12086/16562		NA		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,stop_gained,p.Tyr3923Ter,ENST00000366574,NM_001035.2;RYR2,stop_gained,p.Tyr3907Ter,ENST00000542537,;RYR2,stop_gained,p.Tyr3929Ter,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;							HIGH	11769/14904	Y3923*	RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
ZNF780A	0	LGGM	GRCh37	19	40581210	40581210	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	102	42	.	.	ENST00000455521.1:c.1142A>G	p.Lys381Arg	p.K381R	ENST00000455521	NM_001142577.1	381	aAg/aGg	0	1		UPI00001609C9	0	getma.org/pdb.php?prot=Z780A_HUMAN&from=375&to=400&var=K380R	ENST00000340963		ENSG00000197782	27603		144	0.105		HGNC	p.K380R		ZNF780A		SNV							ENST00000595687	protein_coding	getma.org/?cm=var&var=hg19,19,40581210,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF124,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/R		C	neutral	1442/2229		getma.org/?cm=msa&ty=f&p=Z780A_HUMAN&rb=355&re=420&var=K380R	deleterious(0.02)	M0QYL2_HUMAN,M0QXV4_HUMAN				ZNF780A,missense_variant,p.Lys346Arg,ENST00000450241,;ZNF780A,missense_variant,p.Lys381Arg,ENST00000455521,NM_001142577.1,NM_001142578.1;ZNF780A,missense_variant,p.Lys380Arg,ENST00000595687,NM_001010880.2;ZNF780A,missense_variant,p.Lys380Arg,ENST00000340963,;ZNF780A,missense_variant,p.Lys381Arg,ENST00000594395,;ZNF780A,intron_variant,,ENST00000414720,NM_001142579.1;ZNF780A,downstream_gene_variant,,ENST00000595773,;ZNF780A,downstream_gene_variant,,ENST00000599972,;AC005614.5,intron_variant,,ENST00000595508,;ZNF780A,downstream_gene_variant,,ENST00000599368,;ZNF780A,downstream_gene_variant,,ENST00000601688,;ZNF780A,downstream_gene_variant,,ENST00000601715,;							MODERATE	1139/1926	K380R	Z780A_HUMAN			Transcript		benign(0.023)	.	ENSP00000341507		CCDS33026.2			1	
KRTAP9-3	0	LGGM	GRCh37	17	39388854	39388854	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	90	43	.	.	ENST00000411528.2:c.101A>T	p.Gln34Leu	p.Q34L	ENST00000411528	NM_031962.2	34	cAg/cTg	0	1	1	UPI0000071C07	0	NA	ENST00000411528		ENSG00000204873	16927		133	0.74		HGNC	p.Q34L		KRTAP9-3		SNV							ENST00000411528	protein_coding	getma.org/?cm=var&var=hg19,17,39388854,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF46,hmmpanther:PTHR23262,Pfam_domain:PF13885		Q/L		T	neutral	140/991		getma.org/?cm=msa&ty=f&p=KRA93_HUMAN&rb=27&re=69&var=Q34L	deleterious(0.03)				YES	KRTAP9-3,missense_variant,p.Gln34Leu,ENST00000411528,NM_031962.2;KRTAP9-2,downstream_gene_variant,,ENST00000377721,NM_031961.2;							MODERATE	101/480	Q34L	KRA93_HUMAN			Transcript		unknown(0)	.	ENSP00000392189		CCDS11385.1			1	
NCKAP1	0	LGGM	GRCh37	2	183822279	183822279	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	18	44	.	.	ENST00000360982.2:c.1945A>T	p.Lys649Ter	p.K649*	ENST00000360982	NM_013436.4	649	Aag/Tag	0	1		UPI0000000DED	0	NA	ENST00000361354		ENSG00000061676	7666		62	0		HGNC	p.K649X		NCKAP1		SNV							ENST00000360982	protein_coding	getma.org/?cm=var&var=hg19,2,183822279,T,A&fts=all		Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11,Low_complexity_(Seg):seg		K/*		A	NA	2300/20347		NA						NCKAP1,stop_gained,p.Lys643Ter,ENST00000361354,;NCKAP1,stop_gained,p.Lys649Ter,ENST00000360982,NM_013436.4,NM_205842.2;NCKAP1,non_coding_transcript_exon_variant,,ENST00000495619,;NCKAP1,upstream_gene_variant,,ENST00000493359,;							HIGH	1927/3387	K643*	NCKP1_HUMAN			Transcript			.	ENSP00000355348		CCDS2287.1			1	
PDZD2	0	LGGM	GRCh37	5	32090848	32090848	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072961	H072961N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	34	48	.	.	ENST00000438447.1:c.7294G>C	p.Glu2432Gln	p.E2432Q	ENST00000438447		2432	Gag/Cag	0	1	1	UPI000069648B	0	NA	ENST00000438447		ENSG00000133401	18486		82	1.59		HGNC	p.E2432Q		PDZD2		SNV							ENST00000438447	protein_coding	getma.org/?cm=var&var=hg19,5,32090848,G,C&fts=all		hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		E/Q		C	low	7682/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=2329&re=2528&var=E2432Q	tolerated(0.08)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Glu2432Gln,ENST00000438447,;PDZD2,missense_variant,p.Glu2432Gln,ENST00000282493,NM_178140.2;							MODERATE	7294/8520	E2432Q	PDZD2_HUMAN			Transcript		benign(0.09)	.	ENSP00000402033		CCDS34137.1			1	
HSP90B1	0	LGGM	GRCh37	12	104336562	104336562	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	52	49	.	.	ENST00000299767.5:c.1632C>A	p.Ser544=	p.S544=	ENST00000299767	NM_003299.2	544	tcC/tcA	0	1	1	UPI0000129FBA	0		ENST00000299767		ENSG00000166598	12028		101			HGNC	p.S544S		HSP90B1		SNV							ENST00000299767	protein_coding			HAMAP:MF_00505,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583,hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF44,Superfamily_domains:SSF54211		S		A		1814/2858				Q5CAQ5_HUMAN,F8W026_HUMAN,B4DHT9_HUMAN			YES	HSP90B1,synonymous_variant,p.=,ENST00000299767,NM_003299.2;HSP90B1,upstream_gene_variant,,ENST00000550595,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000548462,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000551983,;HSP90B1,downstream_gene_variant,,ENST00000550479,;HSP90B1,upstream_gene_variant,,ENST00000552051,;							LOW	1632/2412		ENPL_HUMAN			Transcript			.	ENSP00000299767		CCDS9094.1			1	
NCK1	0	LGGM	GRCh37	3	136664683	136664683	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	74	49	.	.	ENST00000481752.1:c.485A>T	p.Glu162Val	p.E162V	ENST00000481752		162	gAa/gTa	0	1		UPI000012FE3E	0	getma.org/pdb.php?prot=NCK1_HUMAN&from=115&to=165&var=E162V	ENST00000288986		ENSG00000158092	7664		123	1.365		HGNC	p.E98V		NCK1		SNV							ENST00000469404	protein_coding	getma.org/?cm=var&var=hg19,3,136664683,A,T&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF11,Gene3D:2.30.30.40,SMART_domains:SM00326,PIRSF_domain:PIRSF037874,Superfamily_domains:SSF50044,Prints_domain:PR00452		E/V		T	low	615/1937		getma.org/?cm=msa&ty=f&p=NCK1_HUMAN&rb=115&re=165&var=E162V	deleterious(0)	C9K098_HUMAN,C9JVV5_HUMAN,C9J0K5_HUMAN				NCK1,missense_variant,p.Glu98Val,ENST00000469404,NM_001190796.1;NCK1,missense_variant,p.Glu162Val,ENST00000481752,;NCK1,missense_variant,p.Glu162Val,ENST00000288986,NM_006153.4;NCK1,intron_variant,,ENST00000467911,;NCK1,intron_variant,,ENST00000488930,;NCK1,intron_variant,,ENST00000496489,;NCK1,downstream_gene_variant,,ENST00000491539,;NCK1,downstream_gene_variant,,ENST00000485096,;IL20RB,upstream_gene_variant,,ENST00000484501,;NCK1,non_coding_transcript_exon_variant,,ENST00000482071,;							MODERATE	485/1134	E162V	NCK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000288986		CCDS3092.1			1	
IFNB1	0	LGGM	GRCh37	9	21077563	21077563	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	70	65	.	.	ENST00000380232.2:c.306G>A	p.Glu102=	p.E102=	ENST00000380232	NM_002176.2	102	gaG/gaA	0	1	1	UPI000004775D	0		ENST00000380232		ENSG00000171855	5434		135			HGNC	p.E102E		IFNB1		SNV							ENST00000380232	protein_coding			Prints_domain:PR00266,Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF7		E		T		381/840				Q5VWC9_HUMAN,B5BUQ5_HUMAN			YES	IFNB1,synonymous_variant,p.=,ENST00000380232,NM_002176.2;							LOW	306/564		IFNB_HUMAN			Transcript			.	ENSP00000369581		CCDS6495.1			1	
DNAH6	0	LGGM	GRCh37	2	84934808	84934808	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	49	65	.	.	ENST00000389394.3:c.9016T>A	p.Tyr3006Asn	p.Y3006N	ENST00000389394	NM_001370.1	3006	Tat/Aat	0	1		UPI000163AC9D	0	getma.org/pdb.php?prot=DYH6_HUMAN&from=2690&to=3024&var=Y3006N	ENST00000237449		ENSG00000115423	2951		114	1.78		HGNC	p.Y3006N		DNAH6		SNV							ENST00000389394	protein_coding	getma.org/?cm=var&var=hg19,2,84934808,T,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12777		Y/N		A	low	9024/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=2690&re=3024&var=Y3006N	deleterious(0.01)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Tyr3006Asn,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Tyr3006Asn,ENST00000237449,;							MODERATE	9016/12477	Y3006N	DYH6_HUMAN			Transcript		benign(0.098)	.	ENSP00000237449		CCDS46348.1			1	
PRC1	0	LGGM	GRCh37	15	91525156	91525156	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	10	67	.	.	ENST00000394249.3:c.323A>T	p.Glu108Val	p.E108V	ENST00000394249	NM_003981.3	108	gAa/gTa	0	1	1	UPI00001A5ED8	0	NA	ENST00000394249		ENSG00000198901	9341		77	2.645		HGNC	p.E108V		PRC1		SNV							ENST00000394249	protein_coding	getma.org/?cm=var&var=hg19,15,91525156,T,A&fts=all		Pfam_domain:PF03999,hmmpanther:PTHR19321:SF1,hmmpanther:PTHR19321,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		E/V		A	medium	401/3032		getma.org/?cm=msa&ty=f&p=PRC1_HUMAN&rb=37&re=615&var=E108V	deleterious(0)				YES	PRC1,missense_variant,p.Glu108Val,ENST00000361188,;PRC1,missense_variant,p.Glu108Val,ENST00000394249,NM_003981.3;PRC1,missense_variant,p.Glu108Val,ENST00000361919,NM_199413.2;PRC1,missense_variant,p.Glu67Val,ENST00000442656,NM_001267580.1;PRC1,missense_variant,p.Glu67Val,ENST00000557905,;PRC1,upstream_gene_variant,,ENST00000559828,;PRC1,downstream_gene_variant,,ENST00000559811,;PRC1-AS1,intron_variant,,ENST00000554388,;Y_RNA,upstream_gene_variant,,ENST00000363272,;PRC1,non_coding_transcript_exon_variant,,ENST00000555745,;PRC1,downstream_gene_variant,,ENST00000556129,;PRC1,non_coding_transcript_exon_variant,,ENST00000417173,;PRC1,non_coding_transcript_exon_variant,,ENST00000557763,;PRC1,non_coding_transcript_exon_variant,,ENST00000553494,;PRC1,non_coding_transcript_exon_variant,,ENST00000555791,;PRC1,non_coding_transcript_exon_variant,,ENST00000560605,;PRC1,upstream_gene_variant,,ENST00000560914,;PRC1,upstream_gene_variant,,ENST00000556982,;							MODERATE	323/1863	E108V	PRC1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000377793		CCDS32334.1			1	
FCRL4	0	LGGM	GRCh37	1	157557181	157557181	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072961	H072961N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	79	68	.	.	ENST00000271532.1:c.732G>A	p.Pro244=	p.P244=	ENST00000271532	NM_031282.2	244	ccG/ccA	0	1	1	UPI000006E26B	0		ENST00000271532		ENSG00000163518	18507		147			HGNC	p.P244P	rs763026310	FCRL4		SNV							ENST00000271532	protein_coding			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		P		T		868/3459							YES	FCRL4,synonymous_variant,p.=,ENST00000271532,NM_031282.2;FCRL4,non_coding_transcript_exon_variant,,ENST00000448509,;	0.000347						LOW	732/1548		FCRL4_HUMAN			Transcript			.	ENSP00000271532	2.47E-05	CCDS1166.1			1	
CCDC129	0	LGGM	GRCh37	7	31683299	31683299	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072961	H072961N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	153	72	.	.	ENST00000451887.2:c.2393T>A	p.Leu798Ter	p.L798*	ENST00000451887	NM_001257968.1	798	tTg/tAg	0	1		UPI00015A2549	0	NA	ENST00000407970		ENSG00000180347	27363		225	0		HGNC	p.L798X		CCDC129		SNV							ENST00000451887	protein_coding	getma.org/?cm=var&var=hg19,7,31683299,T,A&fts=all		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12		L/*		A	NA	2353/3269		NA		E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN				CCDC129,stop_gained,p.Leu624Ter,ENST00000319386,;CCDC129,stop_gained,p.Leu680Ter,ENST00000409210,;CCDC129,stop_gained,p.Leu798Ter,ENST00000451887,NM_001257968.1;CCDC129,stop_gained,p.Leu772Ter,ENST00000407970,NM_194300.3,NM_001257967.1;							HIGH	2315/3135	L772*	CC129_HUMAN			Transcript			.	ENSP00000384416		CCDS5435.2			1	
ZNF502	0	LGGM	GRCh37	3	44763168	44763168	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072961	H072961N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072961N.bam, H072961T.bam	Illumina HiSeq	80	75	.	.	ENST00000296091.4:c.859A>T	p.Arg287Ter	p.R287*	ENST00000296091	NM_001134440.1	287	Aga/Tga	0	1	1	UPI0000072CFB	0	NA	ENST00000296091		ENSG00000196653	23718		155	0		HGNC	p.R287X		ZNF502		SNV							ENST00000449836	protein_coding	getma.org/?cm=var&var=hg19,3,44763168,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/*		T	NA	1115/3270		NA		C9JLT3_HUMAN			YES	ZNF502,stop_gained,p.Arg287Ter,ENST00000296091,NM_001134440.1,NM_033210.4,NM_001282880.1;ZNF502,stop_gained,p.Arg287Ter,ENST00000449836,NM_001134441.1,NM_001134442.1;ZNF502,stop_gained,p.Arg287Ter,ENST00000436624,;ZNF502,downstream_gene_variant,,ENST00000411443,;							HIGH	859/1635	R287*	ZN502_HUMAN			Transcript			.	ENSP00000296091		CCDS2719.1			1	
TCEA3	0	LGGM	GRCh37	1	23713855	23713855	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	2	.	.	ENST00000450454.2:c.877C>G	p.Arg293Gly	p.R293G	ENST00000450454	NM_003196.1	293	Cgt/Ggt	0	1	1	UPI0000136AC2	0	NA	ENST00000450454		ENSG00000204219	11615		13	2.82		HGNC	p.R293G		TCEA3		SNV							ENST00000450454	protein_coding	getma.org/?cm=var&var=hg19,1,23713855,G,C&fts=all		PROSITE_profiles:PS51321,hmmpanther:PTHR11477:SF4,hmmpanther:PTHR11477,TIGRFAM_domain:TIGR01385,Pfam_domain:PF07500,Gene3D:2.20.25.10,PIRSF_domain:PIRSF006704		R/G		C	medium	984/1559		getma.org/?cm=msa&ty=f&p=TCEA3_HUMAN&rb=183&re=297&var=R293G	deleterious(0)				YES	TCEA3,missense_variant,p.Arg293Gly,ENST00000450454,NM_003196.1;TCEA3,missense_variant,p.Arg20Gly,ENST00000476978,;							MODERATE	877/1047	R293G	TCEA3_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000406293		CCDS44086.1			1	
C12orf49	0	LGGM	GRCh37	12	117155652	117155652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	0	2	.	.	ENST00000261318.3:c.581G>T	p.Cys194Phe	p.C194F	ENST00000261318	NM_024738.1	194	tGc/tTc	0	1	1	UPI000004A078	0	NA	ENST00000261318		ENSG00000111412	26128		2	3.005		HGNC	p.C194F		C12orf49		SNV							ENST00000261318	protein_coding	getma.org/?cm=var&var=hg19,12,117155652,C,A&fts=all		Pfam_domain:PF10218,hmmpanther:PTHR13481		C/F		A	medium	742/2801		getma.org/?cm=msa&ty=f&p=CL049_HUMAN&rb=65&re=195&var=C194F	deleterious(0)	F8VVN2_HUMAN			YES	C12orf49,missense_variant,p.Cys194Phe,ENST00000261318,NM_024738.1;C12orf49,missense_variant,p.Cys35Phe,ENST00000548356,;C12orf49,missense_variant,p.Cys164Phe,ENST00000536380,;C12orf49,missense_variant,p.Cys32Phe,ENST00000547606,;C12orf49,3_prime_UTR_variant,,ENST00000547630,;							MODERATE	581/618	C194F	CL049_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261318		CCDS9179.1			1	
MZF1	0	LGGM	GRCh37	19	59082370	59082370	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	4	2	.	.	ENST00000215057.2:c.387C>G	p.Pro129=	p.P129=	ENST00000215057	NM_001267033.1	129	ccC/ccG	0	1	1	UPI0000072863	0		ENST00000215057		ENSG00000099326	13108		6			HGNC	p.P129P		MZF1		SNV							ENST00000599369	protein_coding			Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353		P		C		948/2905				M0R2C0_HUMAN			YES	MZF1,synonymous_variant,p.=,ENST00000215057,NM_001267033.1,NM_198055.1;MZF1,synonymous_variant,p.=,ENST00000599369,NM_003422.2;MZF1,synonymous_variant,p.=,ENST00000594234,;MZF1,synonymous_variant,p.=,ENST00000594108,;MZF1,downstream_gene_variant,,ENST00000596039,;AC016629.8,non_coding_transcript_exon_variant,,ENST00000600726,;AC016629.8,intron_variant,,ENST00000600534,;AC016629.8,downstream_gene_variant,,ENST00000593642,;CENPBD1P1,upstream_gene_variant,,ENST00000493504,;CENPBD1P1,upstream_gene_variant,,ENST00000487264,;CENPBD1P1,upstream_gene_variant,,ENST00000473164,;CENPBD1P1,upstream_gene_variant,,ENST00000479047,;MZF1,non_coding_transcript_exon_variant,,ENST00000595245,;MZF1,non_coding_transcript_exon_variant,,ENST00000600048,;							LOW	387/2205		MZF1_HUMAN			Transcript			.	ENSP00000215057		CCDS12988.1			1	
C1orf87	0	LGGM	GRCh37	1	60466783	60466783	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	2	.	.	ENST00000371201.3:c.1238T>C	p.Val413Ala	p.V413A	ENST00000371201	NM_152377.2	413	gTc/gCc	0	1	1	UPI000006E066	0	NA	ENST00000371201		ENSG00000162598	28547		13	0.805		HGNC	p.V47A		C1orf87		SNV							ENST00000395552	protein_coding	getma.org/?cm=var&var=hg19,1,60466783,A,G&fts=all		Low_complexity_(Seg):seg		V/A		G	low	1346/2028		getma.org/?cm=msa&ty=f&p=CA087_HUMAN&rb=1&re=544&var=V413A	tolerated(0.21)				YES	C1orf87,missense_variant,p.Val413Ala,ENST00000371201,NM_152377.2;C1orf87,missense_variant,p.Val184Ala,ENST00000450089,;C1orf87,missense_variant,p.Val47Ala,ENST00000395552,;C1orf87,non_coding_transcript_exon_variant,,ENST00000486478,;C1orf87,non_coding_transcript_exon_variant,,ENST00000488027,;C1orf87,non_coding_transcript_exon_variant,,ENST00000491817,;							MODERATE	1238/1641	V413A	CA087_HUMAN			Transcript		benign(0.442)	.	ENSP00000360244		CCDS614.1			1	
ZMYND11	0	LGGM	GRCh37	10	294520	294520	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	2	.	.	ENST00000397962.3:c.1472A>G	p.Glu491Gly	p.E491G	ENST00000397962		491	gAg/gGg	0	1		UPI0000458A5F	0	NA	ENST00000381591		ENSG00000015171	16966		16	0.895		HGNC	p.E286G		ZMYND11		SNV							ENST00000535374	protein_coding	getma.org/?cm=var&var=hg19,10,294520,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24102		E/G		G	low	1725/4229		getma.org/?cm=msa&ty=f&p=ZMY11_HUMAN&rb=304&re=503&var=E451G	deleterious(0)					ZMYND11,missense_variant,p.Glu491Gly,ENST00000397962,;ZMYND11,missense_variant,p.Glu451Gly,ENST00000309776,NM_001202466.1,NM_006624.5;ZMYND11,missense_variant,p.Glu491Gly,ENST00000381591,;ZMYND11,missense_variant,p.Glu460Gly,ENST00000402736,;ZMYND11,missense_variant,p.Glu397Gly,ENST00000381607,NM_001202464.1;ZMYND11,missense_variant,p.Glu474Gly,ENST00000381584,;ZMYND11,missense_variant,p.Glu451Gly,ENST00000381604,;ZMYND11,missense_variant,p.Glu451Gly,ENST00000381602,NM_212479.3;ZMYND11,missense_variant,p.Glu490Gly,ENST00000509513,;ZMYND11,missense_variant,p.Glu491Gly,ENST00000558098,NM_001202467.1,NM_001202468.1;ZMYND11,missense_variant,p.Glu406Gly,ENST00000397959,NM_001202465.1;ZMYND11,missense_variant,p.Glu406Gly,ENST00000602682,;ZMYND11,missense_variant,p.Glu411Gly,ENST00000403354,;ZMYND11,missense_variant,p.Glu371Gly,ENST00000545619,;ZMYND11,missense_variant,p.Glu286Gly,ENST00000535374,;ZMYND11,downstream_gene_variant,,ENST00000473115,;ZMYND11,downstream_gene_variant,,ENST00000488275,;							MODERATE	1472/1809	E451G	ZMY11_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000371003		CCDS7052.2			1	
STRA6	0	LGGM	GRCh37	15	74473686	74473686	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	3	2	.	.	ENST00000563965.1:c.1751G>C	p.Gly584Ala	p.G584A	ENST00000563965		584	gGc/gCc	0	1		UPI0000037776	0	NA	ENST00000323940		ENSG00000137868	30650		5	1.435		HGNC	p.G560A		STRA6		SNV			1				ENST00000574278	protein_coding	getma.org/?cm=var&var=hg19,15,74473686,C,G&fts=all		hmmpanther:PTHR21444:SF5,hmmpanther:PTHR21444,Pfam_domain:PF14752		G/A		G	low	1880/2864		getma.org/?cm=msa&ty=f&p=STRA6_HUMAN&rb=534&re=667&var=G545A	tolerated(0.59)	I3L0M6_HUMAN				STRA6,missense_variant,p.Gly545Ala,ENST00000323940,NM_001142618.1,NM_001142619.1,NM_001142617.1;STRA6,missense_variant,p.Gly545Ala,ENST00000395105,NM_022369.3,NM_001199042.1;STRA6,missense_variant,p.Gly536Ala,ENST00000423167,;STRA6,missense_variant,p.Gly537Ala,ENST00000416286,;STRA6,missense_variant,p.Gly545Ala,ENST00000449139,;STRA6,missense_variant,p.Gly582Ala,ENST00000535552,NM_001199040.1;STRA6,missense_variant,p.Gly584Ala,ENST00000563965,;STRA6,missense_variant,p.Gly560Ala,ENST00000574278,NM_001199041.1;STRA6,missense_variant,p.Gly164Ala,ENST00000572785,;ISLR,downstream_gene_variant,,ENST00000249842,NM_005545.3;ISLR,downstream_gene_variant,,ENST00000395118,NM_201526.1;RP11-665J16.1,upstream_gene_variant,,ENST00000561647,;STRA6,non_coding_transcript_exon_variant,,ENST00000574439,;STRA6,non_coding_transcript_exon_variant,,ENST00000545137,;STRA6,downstream_gene_variant,,ENST00000569936,;STRA6,downstream_gene_variant,,ENST00000575272,;							MODERATE	1634/2004	G545A	STRA6_HUMAN			Transcript		benign(0.223)	.	ENSP00000326085		CCDS10261.1			1	
F12	0	LGGM	GRCh37	5	176829657	176829657	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	2	.	.	ENST00000253496.3:c.1574C>G	p.Pro525Arg	p.P525R	ENST00000253496	NM_000505.3	525	cCg/cGg	0	1	1	UPI000048055F	0	getma.org/pdb.php?prot=FA12_HUMAN&from=373&to=609&var=P525R	ENST00000253496		ENSG00000131187	3530	8.76E-05	9	1.205		HGNC	p.P525R	rs762403049	F12		SNV			1				ENST00000253496	protein_coding	getma.org/?cm=var&var=hg19,5,176829657,G,C&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001146,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF75,SMART_domains:SM00020,Superfamily_domains:SSF50494		P/R		C	low	1623/2049	3.11E-05	getma.org/?cm=msa&ty=f&p=FA12_HUMAN&rb=373&re=609&var=P525R	deleterious(0)	Q96EF3_HUMAN			YES	F12,missense_variant,p.Pro525Arg,ENST00000253496,NM_000505.3;SLC34A1,downstream_gene_variant,,ENST00000324417,NM_003052.4;GRK6,upstream_gene_variant,,ENST00000506296,;GRK6,upstream_gene_variant,,ENST00000502598,;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2;F12,non_coding_transcript_exon_variant,,ENST00000514943,;SLC34A1,downstream_gene_variant,,ENST00000513614,;F12,non_coding_transcript_exon_variant,,ENST00000510358,;F12,non_coding_transcript_exon_variant,,ENST00000502854,;F12,non_coding_transcript_exon_variant,,ENST00000504406,;F12,downstream_gene_variant,,ENST00000503736,;							MODERATE	1574/1848	P525R	FA12_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000253496	2.47E-05	CCDS34302.1			1	
DOCK8	0	LGGM	GRCh37	9	379936	379936	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	3	.	.	ENST00000453981.1:c.2605+1G>A		p.X869_splice	ENST00000453981				0	1		UPI000034ECCE	0		ENST00000432829		ENSG00000107099	19191		8			HGNC	-		DOCK8		SNV			1				ENST00000432829	protein_coding							A		-/7452				E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				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,splice_donor_variant,,ENST00000382331,;DOCK8,splice_donor_variant,,ENST00000495184,;DOCK8,splice_donor_variant,,ENST00000483757,;							HIGH	2401/6096		DOCK8_HUMAN			Transcript			.	ENSP00000394888		CCDS55283.1			1	
ATXN2L	0	LGGM	GRCh37	16	28842394	28842394	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000395547.2:c.1321+1G>T		p.X441_splice	ENST00000395547	NM_148414.2			0	1		UPI0000160B8E	0		ENST00000336783		ENSG00000168488	31326		33			HGNC	-		ATXN2L		SNV							ENST00000340394	protein_coding							T		-/4367				H3BSQ5_HUMAN,H3BRB0_HUMAN				ATXN2L,splice_donor_variant,,ENST00000336783,NM_007245.3;ATXN2L,splice_donor_variant,,ENST00000395547,NM_148414.2;ATXN2L,splice_donor_variant,,ENST00000340394,NM_148416.2,NM_148415.2;ATXN2L,splice_donor_variant,,ENST00000325215,NM_017492.3,NM_145714.2;ATXN2L,splice_donor_variant,,ENST00000382686,;ATXN2L,splice_donor_variant,,ENST00000570200,;ATXN2L,splice_donor_variant,,ENST00000564304,;ATXN2L,upstream_gene_variant,,ENST00000566946,;ATXN2L,downstream_gene_variant,,ENST00000568266,;ATXN2L,upstream_gene_variant,,ENST00000564162,;ATXN2L,upstream_gene_variant,,ENST00000569318,;ATXN2L,downstream_gene_variant,,ENST00000564656,;ATXN2L,upstream_gene_variant,,ENST00000566007,;RP11-24N18.1,intron_variant,,ENST00000563565,;ATXN2L,splice_donor_variant,,ENST00000570284,;ATXN2L,upstream_gene_variant,,ENST00000565845,;ATXN2L,splice_donor_variant,,ENST00000563314,;ATXN2L,intron_variant,,ENST00000565971,;ATXN2L,upstream_gene_variant,,ENST00000562583,;ATXN2L,upstream_gene_variant,,ENST00000564035,;ATXN2L,upstream_gene_variant,,ENST00000561732,;ATXN2L,downstream_gene_variant,,ENST00000562867,;ATXN2L,downstream_gene_variant,,ENST00000564284,;ATXN2L,downstream_gene_variant,,ENST00000561539,;ATXN2L,upstream_gene_variant,,ENST00000562686,;							HIGH	1321/3228		ATX2L_HUMAN			Transcript			.	ENSP00000338718		CCDS10641.1			1	
FAM20A	0	LGGM	GRCh37	17	66533883	66533883	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000592554.1:c.1362-1G>T		p.X454_splice	ENST00000592554	NM_001243746.1			0	1	1	UPI00001AE65B	0		ENST00000592554		ENSG00000108950	23015		15			HGNC	-	COSM3820356	FAM20A		SNV			1			1	ENST00000592554	protein_coding							A		-/2955				L8B8N7_HUMAN			YES	FAM20A,splice_acceptor_variant,,ENST00000592554,NM_001243746.1,NM_017565.3;PRKAR1A,intron_variant,,ENST00000588188,NM_001276290.1;PRKAR1A,downstream_gene_variant,,ENST00000589228,NM_001278433.1,NM_002734.4;PRKAR1A,downstream_gene_variant,,ENST00000536854,NM_001276289.1;PRKAR1A,downstream_gene_variant,,ENST00000392711,NM_212472.2;PRKAR1A,downstream_gene_variant,,ENST00000358598,NM_212471.2;FAM20A,splice_acceptor_variant,,ENST00000226094,;FAM20A,downstream_gene_variant,,ENST00000592847,;FAM20A,splice_acceptor_variant,,ENST00000375556,;FAM20A,splice_acceptor_variant,,ENST00000590074,;FAM20A,splice_acceptor_variant,,ENST00000590873,;PRKAR1A,downstream_gene_variant,,ENST00000392710,;					1		HIGH	1362/1626		FA20A_HUMAN			Transcript			.	ENSP00000468308		CCDS11679.1			1	
TLR2	0	LGGM	GRCh37	4	154625794	154625794	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000260010.6:c.1735C>A	p.Arg579Ser	p.R579S	ENST00000260010	NM_003264.3	579	Cgc/Agc	0	1	1	UPI0000137051	0	getma.org/pdb.php?prot=TLR2_HUMAN&from=494&to=642&var=R579S	ENST00000260010		ENSG00000137462	11848		23	1.93		HGNC	p.R579S		TLR2		SNV			1				ENST00000260010	protein_coding	getma.org/?cm=var&var=hg19,4,154625794,C,A&fts=all		hmmpanther:PTHR24365:SF17,hmmpanther:PTHR24365,PIRSF_domain:PIRSF037595,SMART_domains:SM00082		R/S		A	medium	3143/4200		getma.org/?cm=msa&ty=f&p=TLR2_HUMAN&rb=494&re=642&var=R579S	deleterious(0.02)	K9MV98_HUMAN,C6KIA6_HUMAN			YES	TLR2,missense_variant,p.Arg579Ser,ENST00000260010,NM_003264.3;							MODERATE	1735/2355	R579S	TLR2_HUMAN			Transcript		benign(0.259)	.	ENSP00000260010		CCDS3784.1			1	
PRMT10	0	LGGM	GRCh37	4	148601567	148601567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	3	.	.	ENST00000322396.6:c.245G>T	p.Arg82Leu	p.R82L	ENST00000322396	NM_138364.2	82	cGg/cTg	0	1	1	UPI000004971D	0	NA	ENST00000322396		ENSG00000164169	25099		32	2.175		HGNC	p.R82L		PRMT10		SNV							ENST00000322396	protein_coding	getma.org/?cm=var&var=hg19,4,148601567,C,A&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF48,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		R/L		A	medium	488/3528		getma.org/?cm=msa&ty=f&p=ANM10_HUMAN&rb=1&re=101&var=R82L	deleterious(0)	B3KU92_HUMAN			YES	PRMT10,missense_variant,p.Arg82Leu,ENST00000322396,NM_138364.2;PRMT10,intron_variant,,ENST00000541232,;PRMT10,intron_variant,,ENST00000514886,;							MODERATE	245/2538	R82L	ANM10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000314396		CCDS3771.1			1	
IKBKAP	0	LGGM	GRCh37	9	111665867	111665867	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	3	.	.	ENST00000374647.5:c.1726G>C	p.Gly576Arg	p.G576R	ENST00000374647	NM_003640.3	576	Ggc/Cgc	0	1	1	UPI000013D2D0	0	NA	ENST00000374647		ENSG00000070061	5959		36	2.855		HGNC	p.G227R		IKBKAP		SNV			1				ENST00000537196	protein_coding	getma.org/?cm=var&var=hg19,9,111665867,C,G&fts=all		hmmpanther:PTHR12747,Pfam_domain:PF04762,PIRSF_domain:PIRSF017233		G/R		G	medium	2034/5905		getma.org/?cm=msa&ty=f&p=ELP1_HUMAN&rb=1&re=954&var=G576R	tolerated(0.08)	Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN			YES	IKBKAP,missense_variant,p.Gly576Arg,ENST00000374647,NM_003640.3;IKBKAP,missense_variant,p.Gly227Arg,ENST00000537196,;							MODERATE	1726/3999	G576R	ELP1_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000363779		CCDS6773.1			1	
ANO7	0	LGGM	GRCh37	2	242140720	242140720	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	3	.	.	ENST00000274979.8:c.724G>T	p.Gly242Trp	p.G242W	ENST00000274979	NM_001001891.3	242	Ggg/Tgg	0	1	1	UPI0000D612DB	0	NA	ENST00000274979		ENSG00000146205	31677		27	2.78		HGNC	p.G242W		ANO7		SNV							ENST00000274979	protein_coding	getma.org/?cm=var&var=hg19,2,242140720,G,T&fts=all		hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308		G/W		T	medium	827/4128		getma.org/?cm=msa&ty=f&p=ANO7_HUMAN&rb=201&re=334&var=G242W	deleterious(0)				YES	ANO7,missense_variant,p.Gly242Trp,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Gly241Trp,ENST00000402430,;ANO7,downstream_gene_variant,,ENST00000475532,;							MODERATE	724/2802	G242W	ANO7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000274979		CCDS33423.1			1	
DAGLA	0	LGGM	GRCh37	11	61488236	61488236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000257215.5:c.181G>T	p.Gly61Cys	p.G61C	ENST00000257215	NM_006133.2	61	Ggc/Tgc	0	1	1	UPI00001678B3	0	NA	ENST00000257215		ENSG00000134780	1165		23	1.935		HGNC	p.G61C		DAGLA		SNV			1				ENST00000540717	protein_coding	getma.org/?cm=var&var=hg19,11,61488236,G,T&fts=all		hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87		G/C		T	medium	297/5757		getma.org/?cm=msa&ty=f&p=DGLA_HUMAN&rb=1&re=79&var=G61C	deleterious(0.04)				YES	DAGLA,missense_variant,p.Gly61Cys,ENST00000257215,NM_006133.2;DAGLA,missense_variant,p.Gly61Cys,ENST00000540717,;							MODERATE	181/3129	G61C	DGLA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000257215		CCDS31578.1			1	
POM121C	0	LGGM	GRCh37	7	75055681	75055681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000453279.2:c.535C>A	p.Arg179Ser	p.R179S	ENST00000453279	NM_001099415.2	179	Cgc/Agc	0	1	1	UPI00001C1E87	0	NA	ENST00000453279		ENSG00000135213	34005		19	2.045		HGNC	p.R51S		POM121C		SNV							ENST00000439629	protein_coding	getma.org/?cm=var&var=hg19,7,75055681,G,T&fts=all		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5,Low_complexity_(Seg):seg		R/S		T	medium	1400/5839		getma.org/?cm=msa&ty=f&p=P121B_HUMAN&rb=8&re=832&var=R28S	deleterious(0.01)	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN			YES	POM121C,missense_variant,p.Arg179Ser,ENST00000453279,NM_001099415.2;POM121C,missense_variant,p.Arg421Ser,ENST00000257665,;POM121C,missense_variant,p.Arg51Ser,ENST00000439629,;POM121C,intron_variant,,ENST00000473168,;POM121C,non_coding_transcript_exon_variant,,ENST00000479864,;POM121C,upstream_gene_variant,,ENST00000473609,;							MODERATE	535/2964	R28S	P121C_HUMAN			Transcript		possibly_damaging(0.74)	.	ENSP00000414208		CCDS47617.1			1	
NLGN4X	0	LGGM	GRCh37	X	6069326	6069326	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000381095.3:c.182C>A	p.Pro61Gln	p.P61Q	ENST00000381095	NM_181332.1	61	cCg/cAg	0	1		UPI0000072EC5	0	getma.org/pdb.php?prot=NLGNX_HUMAN&from=22&to=590&var=P61Q	ENST00000275857		ENSG00000146938	14287		23	0.795		HGNC	p.P61Q		NLGN4X		SNV			1				ENST00000381092	protein_coding	getma.org/?cm=var&var=hg19,X,6069326,G,T&fts=all		Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559		P/Q		T	neutral	646/5454		getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=22&re=590&var=P61Q	tolerated(0.1)	B3KMT6_HUMAN				NLGN4X,missense_variant,p.Pro61Gln,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Pro61Gln,ENST00000381093,;NLGN4X,missense_variant,p.Pro61Gln,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Pro61Gln,ENST00000381092,;NLGN4X,missense_variant,p.Pro61Gln,ENST00000538097,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,downstream_gene_variant,,ENST00000483337,;							MODERATE	182/2451	P61Q	NLGNX_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000275857		CCDS14126.1			1	
CACNA1A	0	LGGM	GRCh37	19	13409387	13409387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	6	3	.	.	ENST00000360228.5:c.3060G>T	p.Glu1020Asp	p.E1020D	ENST00000360228	NM_001127222.1	1020	gaG/gaT	0	1	1	UPI0000141565	0	NA	ENST00000360228		ENSG00000141837	1388		9	0.28		HGNC	p.E1020D		CACNA1A		SNV			1				ENST00000360228	protein_coding	getma.org/?cm=var&var=hg19,19,13409387,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Low_complexity_(Seg):seg		E/D		A	neutral	3060/8392		getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=914&re=1113&var=E1021D		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,missense_variant,p.Glu1020Asp,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Glu1021Asp,ENST00000573710,NM_001127221.1;							MODERATE	3060/7521	E1021D	CAC1A_HUMAN			Transcript		benign(0.001)	.	ENSP00000353362		CCDS45998.1			1	
CUL9	0	LGGM	GRCh37	6	43189428	43189428	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	3	.	.	ENST00000252050.4:c.6758C>A	p.Thr2253Asn	p.T2253N	ENST00000252050	NM_015089.2	2253	aCc/aAc	0	1	1	UPI000006F22F	0	getma.org/pdb.php?prot=CUL9_HUMAN&from=2215&to=2279&var=T2253N	ENST00000252050		ENSG00000112659	15982		29	2.125		HGNC	p.T2225N		CUL9		SNV							ENST00000372647	protein_coding	getma.org/?cm=var&var=hg19,6,43189428,C,A&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850		T/N		A	medium	6842/7780		getma.org/?cm=msa&ty=f&p=CUL9_HUMAN&rb=2215&re=2279&var=T2253N	deleterious(0.01)				YES	CUL9,missense_variant,p.Thr2253Asn,ENST00000252050,NM_015089.2;CUL9,missense_variant,p.Thr2225Asn,ENST00000372647,;CUL9,missense_variant,p.Thr2143Asn,ENST00000354495,;DNPH1,downstream_gene_variant,,ENST00000509253,;DNPH1,downstream_gene_variant,,ENST00000393987,NM_199184.1;DNPH1,downstream_gene_variant,,ENST00000230431,NM_006443.2;RP3-330M21.5,intron_variant,,ENST00000500590,;CUL9,3_prime_UTR_variant,,ENST00000506830,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000503766,;CUL9,downstream_gene_variant,,ENST00000508656,;CUL9,upstream_gene_variant,,ENST00000504647,;CUL9,downstream_gene_variant,,ENST00000512423,;CUL9,upstream_gene_variant,,ENST00000505405,;DNPH1,downstream_gene_variant,,ENST00000505042,;							MODERATE	6758/7554	T2253N	CUL9_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000252050		CCDS4890.1			1	
POLG	0	LGGM	GRCh37	15	89876434	89876434	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	3	.	.	ENST00000268124.5:c.552C>A	p.Ala184=	p.A184=	ENST00000268124	NM_001126131.1	184	gcC/gcA	0	1	1	UPI000000D9E8	0		ENST00000268124		ENSG00000140521	9179		8			HGNC	p.A184A		POLG		SNV			1				ENST00000268124	protein_coding			PIRSF_domain:PIRSF000797,hmmpanther:PTHR10267,hmmpanther:PTHR10267:SF0		A		T		886/4502				E5KNU5_HUMAN,Q6LCA9_HUMAN,Q2V8X9_HUMAN			YES	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,;							LOW	552/3720		DPOG1_HUMAN			Transcript			.	ENSP00000268124		CCDS10350.1			1	
TMEM63A	0	LGGM	GRCh37	1	226037744	226037744	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	3	.	.	ENST00000366835.3:c.1940G>T	p.Arg647Leu	p.R647L	ENST00000366835	NM_014698.2	647	cGg/cTg	0	1	1	UPI000006DE50	0	NA	ENST00000366835		ENSG00000196187	29118		39	2.85		HGNC	p.R647L		TMEM63A		SNV							ENST00000366835	protein_coding	getma.org/?cm=var&var=hg19,1,226037744,C,A&fts=all		hmmpanther:PTHR13018,hmmpanther:PTHR13018:SF24,Pfam_domain:PF02714		R/L		A	medium	2211/4098		getma.org/?cm=msa&ty=f&p=TM63A_HUMAN&rb=350&re=693&var=R647L	deleterious(0)	Q2HIZ8_HUMAN			YES	TMEM63A,missense_variant,p.Arg647Leu,ENST00000366835,NM_014698.2;EPHX1,downstream_gene_variant,,ENST00000366837,NM_000120.3;EPHX1,downstream_gene_variant,,ENST00000272167,NM_001136018.2;RP11-285F7.2,upstream_gene_variant,,ENST00000424332,;TMEM63A,upstream_gene_variant,,ENST00000496025,;TMEM63A,upstream_gene_variant,,ENST00000482753,;							MODERATE	1940/2424	R647L	TM63A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355800		CCDS31042.1			1	
ATXN2	0	LGGM	GRCh37	12	111951192	111951192	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	3	.	.	ENST00000377617.3:c.2007G>T	p.Ser669=	p.S669=	ENST00000377617	NM_002973.3	669	tcG/tcT	0	1	1	UPI0000DBEEFC	0		ENST00000377617		ENSG00000204842	10555		27			HGNC	p.S59S		ATXN2		SNV			1				ENST00000492467	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11		S		A		2169/4702				D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN			YES	ATXN2,synonymous_variant,p.=,ENST00000377617,NM_002973.3;ATXN2,synonymous_variant,p.=,ENST00000550104,;ATXN2,synonymous_variant,p.=,ENST00000608853,;ATXN2,synonymous_variant,p.=,ENST00000389153,;ATXN2,synonymous_variant,p.=,ENST00000542287,;ATXN2,synonymous_variant,p.=,ENST00000535949,;ATXN2,synonymous_variant,p.=,ENST00000492467,;ATXN2,synonymous_variant,p.=,ENST00000550236,;ATXN2,downstream_gene_variant,,ENST00000481331,;ATXN2,synonymous_variant,p.=,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000392645,;ATXN2,upstream_gene_variant,,ENST00000546483,;							LOW	2007/3942		ATX2_HUMAN			Transcript			.	ENSP00000366843		CCDS31902.1			1	
LPIN3	0	LGGM	GRCh37	20	39985752	39985752	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000373257.3:c.1876C>A	p.Arg626Ser	p.R626S	ENST00000373257	NM_022896.1	626	Cgc/Agc	0	1	1	UPI0000470AE3	0	NA	ENST00000373257		ENSG00000132793	14451		19	1.805		HGNC	p.R626S		LPIN3		SNV							ENST00000373257	protein_coding	getma.org/?cm=var&var=hg19,20,39985752,C,A&fts=all		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF32		R/S		A	low	1967/4363		getma.org/?cm=msa&ty=f&p=LPIN3_HUMAN&rb=574&re=639&var=R626S	deleterious(0)				YES	LPIN3,missense_variant,p.Arg626Ser,ENST00000373257,NM_022896.1;LPIN3,missense_variant,p.Arg116Ser,ENST00000445975,;EMILIN3,downstream_gene_variant,,ENST00000332312,NM_052846.1;LPIN3,non_coding_transcript_exon_variant,,ENST00000496565,;LPIN3,upstream_gene_variant,,ENST00000491528,;							MODERATE	1876/2556	R626S	LPIN3_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000362354		CCDS33469.1			1	
WIF1	0	LGGM	GRCh37	12	65445160	65445160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	3	.	.	ENST00000286574.4:c.1109G>T	p.Arg370Leu	p.R370L	ENST00000286574	NM_007191.4	370	cGg/cTg	0	1	1	UPI0000038BEE	0	NA	ENST00000286574		ENSG00000156076	18081		27	0.345		HGNC	p.R119L		WIF1		SNV							ENST00000543094	protein_coding	getma.org/?cm=var&var=hg19,12,65445160,C,A&fts=all		hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30		R/L		A	neutral	1484/2238		getma.org/?cm=msa&ty=f&p=WIF1_HUMAN&rb=338&re=379&var=R370L	tolerated_low_confidence(0.18)	F5H8A3_HUMAN,B4DX53_HUMAN			YES	WIF1,missense_variant,p.Arg370Leu,ENST00000286574,NM_007191.4;WIF1,missense_variant,p.Arg119Leu,ENST00000543094,;							MODERATE	1109/1140	R370L	WIF1_HUMAN			Transcript		benign(0.009)	.	ENSP00000286574		CCDS8971.1			1	
PRIMPOL	0	LGGM	GRCh37	4	185583025	185583025	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	3	.	.	ENST00000314970.6:c.376G>C	p.Asp126His	p.D126H	ENST00000314970	NM_152683.2	126	Gat/Cat	0	1	1	UPI000013E37F	0	NA	ENST00000314970		ENSG00000164306	26575		36	3.06		HGNC	p.D126H		PRIMPOL		SNV			1				ENST00000503752	protein_coding	getma.org/?cm=var&var=hg19,4,185583025,G,C&fts=all		Pfam_domain:PF01896,hmmpanther:PTHR31399,hmmpanther:PTHR31399:SF0		D/H		C	medium	809/2289		getma.org/?cm=msa&ty=f&p=CC111_HUMAN&rb=113&re=303&var=D126H		D6RAH5_HUMAN,D6R971_HUMAN			YES	PRIMPOL,missense_variant,p.Asp126His,ENST00000314970,NM_152683.2;PRIMPOL,missense_variant,p.Asp126His,ENST00000512834,;PRIMPOL,missense_variant,p.Asp126His,ENST00000503752,;PRIMPOL,5_prime_UTR_variant,,ENST00000515774,;PRIMPOL,intron_variant,,ENST00000509002,;PRIMPOL,intron_variant,,ENST00000506278,;PRIMPOL,intron_variant,,ENST00000515152,;PRIMPOL,downstream_gene_variant,,ENST00000509538,;							MODERATE	376/1683	D126H	CC111_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000313816		CCDS3837.1			1	
PLA2G16	0	LGGM	GRCh37	11	63357583	63357583	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	3	.	.	ENST00000323646.5:c.376C>A	p.Arg126Ser	p.R126S	ENST00000323646	NM_007069.3	126	Cgc/Agc	0	1	1	UPI000012CBE4	0	getma.org/pdb.php?prot=PAG16_HUMAN&from=2&to=126&var=R126S	ENST00000323646		ENSG00000176485	17825		26	2.545		HGNC	p.R126S		PLA2G16		SNV							ENST00000415826	protein_coding	getma.org/?cm=var&var=hg19,11,63357583,G,T&fts=all		hmmpanther:PTHR13943:SF33,hmmpanther:PTHR13943		R/S		T	medium	731/2594		getma.org/?cm=msa&ty=f&p=PAG16_HUMAN&rb=2&re=126&var=R126S	deleterious(0.05)	F5H7E5_HUMAN			YES	PLA2G16,missense_variant,p.Arg126Ser,ENST00000323646,NM_007069.3;PLA2G16,missense_variant,p.Arg126Ser,ENST00000415826,NM_001128203.1;PLA2G16,downstream_gene_variant,,ENST00000540943,;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;PLA2G16,downstream_gene_variant,,ENST00000544269,;							MODERATE	376/489	R126S	HRSL3_HUMAN			Transcript		possibly_damaging(0.557)	.	ENSP00000320337		CCDS8047.1			1	
SIX6	0	LGGM	GRCh37	14	60977897	60977897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	3	.	.	ENST00000327720.5:c.668C>A	p.Ala223Asp	p.A223D	ENST00000327720	NM_007374.2	223	gCc/gAc	0	1	1	UPI000013E4DB	0	NA	ENST00000327720		ENSG00000184302	10892		12	0.55		HGNC	p.A223D		SIX6		SNV			1				ENST00000327720	protein_coding	getma.org/?cm=var&var=hg19,14,60977897,C,A&fts=all		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF12,Low_complexity_(Seg):seg		A/D		A	neutral	1116/2787		getma.org/?cm=msa&ty=f&p=SIX6_HUMAN&rb=186&re=246&var=A223D	tolerated(0.56)	Q6P051_HUMAN,Q5M8S8_HUMAN			YES	SIX6,missense_variant,p.Ala223Asp,ENST00000327720,NM_007374.2;C14orf39,intron_variant,,ENST00000556799,;RP11-1042B17.3,upstream_gene_variant,,ENST00000557618,;							MODERATE	668/741	A223D	SIX6_HUMAN			Transcript		benign(0.001)	.	ENSP00000328596		CCDS9747.1			1	
LCE1B	0	LGGM	GRCh37	1	152785222	152785222	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	3	.	.	ENST00000360090.3:c.300C>A	p.Ser100=	p.S100=	ENST00000360090	NM_178349.1	100	tcC/tcA	0	1	1	UPI000014099C	0		ENST00000360090		ENSG00000196734	16611		39			HGNC	p.S100S	rs200529644	LCE1B		SNV	T:0			0.000105			ENST00000360090	protein_coding		T:0	Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Pfam_domain:PF14672		S	T:0.0001	A		776/1139					T:0	T:0.004	YES	LCE1B,synonymous_variant,p.=,ENST00000360090,NM_178349.1;		T:0.0008					LOW	300/357		LCE1B_HUMAN		T:0	Transcript			.	ENSP00000353203	1.65E-05	CCDS1027.1		T:0	1	
CLRN3	0	LGGM	GRCh37	10	129676642	129676642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	3	.	.	ENST00000368671.3:c.452C>A	p.Thr151Lys	p.T151K	ENST00000368671	NM_152311.3	151	aCg/aAg	0	1	1	UPI00000701B3	0	NA	ENST00000368671		ENSG00000180745	20795		37	1.04		HGNC	p.T151K		CLRN3		SNV							ENST00000368671	protein_coding	getma.org/?cm=var&var=hg19,10,129676642,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF3,Pfam_domain:PF13903		T/K		T	low	615/1152		getma.org/?cm=msa&ty=f&p=CLRN3_HUMAN&rb=18&re=200&var=T151K	deleterious(0.02)				YES	CLRN3,missense_variant,p.Thr151Lys,ENST00000368671,NM_152311.3;							MODERATE	452/681	T151K	CLRN3_HUMAN			Transcript		possibly_damaging(0.768)	.	ENSP00000357660		CCDS7656.1			1	
GLA	0	LGGM	GRCh37	X	100655666	100655666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000218516.3:c.627G>T	p.Trp209Cys	p.W209C	ENST00000218516	NM_000169.2	209	tgG/tgT	0	1	1	UPI0000033A30	0		ENST00000218516		ENSG00000102393	4296		10			HGNC	p.W209C		GLA		SNV			1				ENST00000218516	protein_coding			hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF15,Gene3D:3.20.20.70,Superfamily_domains:SSF51445		W/C		A		649/1318			tolerated(0.17)	Q6LER7_HUMAN,Q53Y83_HUMAN			YES	GLA,missense_variant,p.Trp209Cys,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,;RPL36A,downstream_gene_variant,,ENST00000427805,NM_021029.5;RPL36A,downstream_gene_variant,,ENST00000392994,;RPL36A,downstream_gene_variant,,ENST00000553110,;RPL36A,downstream_gene_variant,,ENST00000471855,;GLA,non_coding_transcript_exon_variant,,ENST00000486121,;GLA,non_coding_transcript_exon_variant,,ENST00000468823,;GLA,intron_variant,,ENST00000480513,;GLA,downstream_gene_variant,,ENST00000479445,;GLA,upstream_gene_variant,,ENST00000466414,;GLA,missense_variant,p.Trp209Cys,ENST00000493905,;RPL36A,downstream_gene_variant,,ENST00000465744,;RPL36A,downstream_gene_variant,,ENST00000372849,;RPL36A,downstream_gene_variant,,ENST00000489407,;							MODERATE	627/1290		AGAL_HUMAN			Transcript		possibly_damaging(0.696)	.	ENSP00000218516		CCDS14484.1			1	
BCL11B	0	LGGM	GRCh37	14	99724153	99724153	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000357195.3:c.82G>T	p.Ala28Ser	p.A28S	ENST00000357195	NM_138576.2	28	Gcc/Tcc	0	1	1	UPI000006E083	0	NA	ENST00000357195		ENSG00000127152	13222		19	0.895		HGNC	p.A28S	COSM554393	BCL11B		SNV						1	ENST00000357195	protein_coding	getma.org/?cm=var&var=hg19,14,99724153,C,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Low_complexity_(Seg):seg		A/S		A	low	92/7559		getma.org/?cm=msa&ty=f&p=BC11B_HUMAN&rb=1&re=54&var=A28S	tolerated(0.17)	L8B7P7_HUMAN			YES	BCL11B,missense_variant,p.Ala28Ser,ENST00000345514,NM_022898.1,NM_001282238.1;BCL11B,missense_variant,p.Ala28Ser,ENST00000357195,NM_138576.2,NM_001282237.1;BCL11B,intron_variant,,ENST00000443726,;					1		MODERATE	82/2685	A28S	BC11B_HUMAN			Transcript		benign(0.018)	.	ENSP00000349723		CCDS9950.1			1	
ZNF236	0	LGGM	GRCh37	18	74625709	74625709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	3	.	.	ENST00000253159.8:c.2910C>A	p.Asp970Glu	p.D970E	ENST00000253159	NM_007345.3	970	gaC/gaA	0	1	1	UPI0000F6DCCB	0	getma.org/pdb.php?prot=ZN236_HUMAN&from=953&to=980&var=D970E	ENST00000253159		ENSG00000130856	13028		22	0.09		HGNC	p.D970E		ZNF236		SNV							ENST00000543926	protein_coding	getma.org/?cm=var&var=hg19,18,74625709,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15,SMART_domains:SM00355		D/E		A	neutral	3108/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=923&re=1010&var=D970E	tolerated(0.93)				YES	ZNF236,missense_variant,p.Asp970Glu,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Asp972Glu,ENST00000320610,;ZNF236,missense_variant,p.Asp970Glu,ENST00000543926,;ZNF236,non_coding_transcript_exon_variant,,ENST00000581450,;							MODERATE	2910/5538	D970E	ZN236_HUMAN			Transcript		benign(0.005)	.	ENSP00000253159		CCDS42447.1			1	
COL23A1	0	LGGM	GRCh37	5	177677103	177677103	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000390654.3:c.1018G>T	p.Glu340Ter	p.E340*	ENST00000390654	NM_173465.3	340	Gag/Tag	0	1	1	UPI0000062274	0	NA	ENST00000390654		ENSG00000050767	22990		23	0		HGNC	p.E340X		COL23A1		SNV							ENST00000390654	protein_coding	getma.org/?cm=var&var=hg19,5,177677103,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023		E/*		A	NA	1376/3061		NA					YES	COL23A1,stop_gained,p.Glu340Ter,ENST00000390654,NM_173465.3;COL23A1,downstream_gene_variant,,ENST00000407622,;							HIGH	1018/1623	E340*	CONA1_HUMAN			Transcript			.	ENSP00000375069		CCDS4436.1			1	
C6orf222	0	LGGM	GRCh37	6	36298068	36298068	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	3	.	.	ENST00000437635.2:c.400G>C	p.Glu134Gln	p.E134Q	ENST00000437635	NM_001010903.4	134	Gag/Cag	0	1	1	UPI000022CB9B	0	NA	ENST00000437635		ENSG00000189325	33769		26	2.295		HGNC	p.E134Q		C6orf222		SNV							ENST00000437635	protein_coding	getma.org/?cm=var&var=hg19,6,36298068,C,G&fts=all		hmmpanther:PTHR22435,hmmpanther:PTHR22435:SF0		E/Q		G	medium	578/3736		getma.org/?cm=msa&ty=f&p=CF222_HUMAN&rb=98&re=624&var=E134Q	tolerated(0.05)				YES	C6orf222,missense_variant,p.Glu134Gln,ENST00000437635,NM_001010903.4;							MODERATE	400/1959	E134Q	CF222_HUMAN			Transcript		benign(0.024)	.	ENSP00000418983		CCDS34439.1			1	
HTR1A	0	LGGM	GRCh37	5	63256826	63256826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	3	.	.	ENST00000323865.3:c.721C>A	p.Arg241Ser	p.R241S	ENST00000323865	NM_000524.3	241	Cgc/Agc	0	1	1	UPI0000124F1A	0	getma.org/pdb.php?prot=5HT1A_HUMAN&from=53&to=400&var=R241S	ENST00000323865		ENSG00000178394	5286		29	-0.325		HGNC	p.R241S		HTR1A		SNV			1				ENST00000323865	protein_coding	getma.org/?cm=var&var=hg19,5,63256826,G,T&fts=all		Pfam_domain:PF00001,Prints_domain:PR00512,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20		R/S		T	neutral	955/1598		getma.org/?cm=msa&ty=f&p=5HT1A_HUMAN&rb=53&re=400&var=R241S	tolerated(0.73)	Q5ZGX3_HUMAN,D6RA34_HUMAN			YES	HTR1A,missense_variant,p.Arg241Ser,ENST00000323865,NM_000524.3;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;							MODERATE	721/1269	R241S	5HT1A_HUMAN			Transcript		benign(0.003)	.	ENSP00000316244		CCDS34168.1			1	
MYO7B	0	LGGM	GRCh37	2	128381890	128381890	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	3	.	.	ENST00000428314.1:c.3964G>T	p.Glu1322Ter	p.E1322*	ENST00000428314	NM_001080527.1	1322	Gag/Tag	0	1		UPI00006C04F0	0	NA	ENST00000409816		ENSG00000169994	7607		22	0		HGNC	p.E1322X		MYO7B		SNV							ENST00000389524	protein_coding	getma.org/?cm=var&var=hg19,2,128381890,G,T&fts=all		PROSITE_profiles:PS50057,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031		E/*		T	NA	3996/6694		NA		C9JC21_HUMAN,B9A063_HUMAN				MYO7B,stop_gained,p.Glu1322Ter,ENST00000389524,;MYO7B,stop_gained,p.Glu1322Ter,ENST00000428314,NM_001080527.1;MYO7B,stop_gained,p.Glu1322Ter,ENST00000409816,;MYO7B,stop_gained,p.Glu175Ter,ENST00000409090,;MYO7B,stop_gained,p.Glu175Ter,ENST00000437387,;RP11-286H15.1,downstream_gene_variant,,ENST00000609697,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;							HIGH	3964/6351	E1322*	MYO7B_HUMAN			Transcript			.	ENSP00000386461		CCDS46405.1			1	
HYOU1	0	LGGM	GRCh37	11	118918737	118918737	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000404233.3:c.2432G>T	p.Arg811Leu	p.R811L	ENST00000404233	NM_001130991.1	811	cGg/cTg	0	1	1	UPI0000130F72	0	NA	ENST00000404233		ENSG00000149428	16931		18	3.115		HGNC	p.R749L		HYOU1		SNV							ENST00000525859	protein_coding	getma.org/?cm=var&var=hg19,11,118918737,C,A&fts=all		hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375,Gene3D:1.20.1270.10,Superfamily_domains:SSF100934		R/L		A	medium	2557/4530		getma.org/?cm=msa&ty=f&p=HYOU1_HUMAN&rb=35&re=814&var=R811L	deleterious(0)	J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN			YES	HYOU1,missense_variant,p.Arg811Leu,ENST00000404233,NM_001130991.1,NM_006389.3;HYOU1,missense_variant,p.Arg749Leu,ENST00000529972,;HYOU1,missense_variant,p.Arg749Leu,ENST00000525859,;HYOU1,downstream_gene_variant,,ENST00000543287,;HYOU1,downstream_gene_variant,,ENST00000530473,;RP11-110I1.6,downstream_gene_variant,,ENST00000531886,;HYOU1,non_coding_transcript_exon_variant,,ENST00000527738,;HYOU1,downstream_gene_variant,,ENST00000532519,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,downstream_gene_variant,,ENST00000531682,;							MODERATE	2432/3000	R811L	HYOU1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000384144		CCDS8408.1			1	
CHPF	0	LGGM	GRCh37	2	220405781	220405781	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	3	.	.	ENST00000243776.6:c.955C>A	p.Arg319=	p.R319=	ENST00000243776	NM_024536.5	319	Cga/Aga	0	1	1	UPI00001AE6D6	0		ENST00000243776		ENSG00000123989	24291		21			HGNC	p.R157R		CHPF		SNV							ENST00000535926	protein_coding			Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF12		R		T		1204/3013							YES	CHPF,synonymous_variant,p.=,ENST00000243776,NM_024536.5;CHPF,synonymous_variant,p.=,ENST00000535926,NM_001195731.1;ASIC4,downstream_gene_variant,,ENST00000358078,;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.1;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000474489,;							LOW	955/2328		CHSS2_HUMAN			Transcript			.	ENSP00000243776		CCDS2443.1			1	
EEF1A1	0	LGGM	GRCh37	6	74228876	74228876	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	3	.	.	ENST00000316292.9:c.400C>A	p.Arg134=	p.R134=	ENST00000316292	NM_001402.5	134	Cga/Aga	0	1		UPI00000012CA	0		ENST00000309268		ENSG00000156508	3189		40			HGNC	p.R134R		EEF1A1		SNV							ENST00000331523	protein_coding			HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540		R		T		1019/2303				Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,synonymous_variant,p.=,ENST00000316292,NM_001402.5;EEF1A1,synonymous_variant,p.=,ENST00000309268,;EEF1A1,synonymous_variant,p.=,ENST00000331523,;EEF1A1,synonymous_variant,p.=,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;							LOW	400/1389		EF1A1_HUMAN			Transcript			.	ENSP00000339053		CCDS4980.1			1	
ATP6AP2	0	LGGM	GRCh37	X	40450546	40450546	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000378438.4:c.229A>G	p.Met77Val	p.M77V	ENST00000378438	NM_005765.2	77	Atg/Gtg	0	1	1	UPI000006EC3F	0	NA	ENST00000378438		ENSG00000182220	18305		23	0.2		HGNC	p.M77V		ATP6AP2		SNV			1				ENST00000535777	protein_coding	getma.org/?cm=var&var=hg19,X,40450546,A,G&fts=all		hmmpanther:PTHR13351		M/V		G	neutral	387/2093		getma.org/?cm=msa&ty=f&p=RENR_HUMAN&rb=1&re=200&var=M77V	tolerated(0.12)	B7Z413_HUMAN			YES	ATP6AP2,start_lost,p.Met1?,ENST00000544975,;ATP6AP2,missense_variant,p.Met77Val,ENST00000378438,NM_005765.2;ATP6AP2,missense_variant,p.Met77Val,ENST00000535539,;ATP6AP2,missense_variant,p.Met77Val,ENST00000535777,;ATP6AP2,missense_variant,p.Met52Val,ENST00000447485,;ATP6AP2,missense_variant,p.Met96Val,ENST00000423649,;ATP6AP2,missense_variant,p.Met109Val,ENST00000436783,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000486558,;ATP6AP2,non_coding_transcript_exon_variant,,ENST00000487051,;							MODERATE	229/1053	M77V	RENR_HUMAN			Transcript		benign(0.018)	.	ENSP00000367697		CCDS14252.1			1	
MSLNL	0	LGGM	GRCh37	16	823274	823274	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000293892.3:c.1994G>T	p.Arg665Leu	p.R665L	ENST00000293892		665	cGg/cTg	0	1		UPI0001AE6819	0		ENST00000442466		ENSG00000162006	14170		11			HGNC	p.R665L		MSLNL		SNV							ENST00000293892	protein_coding			Pfam_domain:PF06060,hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF15		R/L		A		941/2109			tolerated(0.51)					MSLNL,missense_variant,p.Arg665Leu,ENST00000293892,;MSLNL,missense_variant,p.Arg364Leu,ENST00000543963,;MSLNL,missense_variant,p.Arg314Leu,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,;							MODERATE	941/2109		MSLNL_HUMAN			Transcript		benign(0.011)	.	ENSP00000415767					1	
DGCR6L	0	LGGM	GRCh37	22	20302923	20302923	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	6	3	.	.	ENST00000248879.3:c.449C>A	p.Ala150Asp	p.A150D	ENST00000248879	NM_033257.3	150	gCt/gAt	0	1	1	UPI0000129216	0	NA	ENST00000248879		ENSG00000128185	18551		9	1.545		HGNC	p.A150D		DGCR6L		SNV							ENST00000248879	protein_coding	getma.org/?cm=var&var=hg19,22,20302923,G,T&fts=all		Pfam_domain:PF07324,hmmpanther:PTHR13054:SF4,hmmpanther:PTHR13054		A/D		T	low	541/1154		getma.org/?cm=msa&ty=f&p=DGC6L_HUMAN&rb=1&re=195&var=A150D	tolerated(0.13)				YES	DGCR6L,missense_variant,p.Ala150Asp,ENST00000248879,NM_033257.3;DGCR6L,missense_variant,p.Ala112Asp,ENST00000405465,;XXbac-B444P24.13,downstream_gene_variant,,ENST00000608275,;DGCR6L,3_prime_UTR_variant,,ENST00000443409,;XXbac-B444P24.10,downstream_gene_variant,,ENST00000438948,;							MODERATE	449/663	A150D	DGC6L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000248879		CCDS13778.1			1	
MYO9B	0	LGGM	GRCh37	19	17212572	17212572	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000595618.1:c.45G>T	p.Ala15=	p.A15=	ENST00000595618	NM_001130065.1	15	gcG/gcT	0	1		UPI0002A47676	0		ENST00000594824		ENSG00000099331	7609		18			HGNC	p.A15A		MYO9B		SNV			1				ENST00000595618	protein_coding			PROSITE_profiles:PS50200,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00314		A		T		192/7595				M0R0P8_HUMAN				MYO9B,synonymous_variant,p.=,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,synonymous_variant,p.=,ENST00000594824,;MYO9B,synonymous_variant,p.=,ENST00000397274,;MYO9B,synonymous_variant,p.=,ENST00000595641,;CTD-2528A14.5,upstream_gene_variant,,ENST00000597045,;MYO9B,upstream_gene_variant,,ENST00000593411,;							LOW	45/6474					Transcript			.	ENSP00000471367					1	
VPREB3	0	LGGM	GRCh37	22	24095199	24095199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000248948.3:c.236G>T	p.Arg79Leu	p.R79L	ENST00000248948	NM_013378.2	79	cGg/cTg	0	1	1	UPI0000049DEB	0	getma.org/pdb.php?prot=VPRE3_HUMAN&from=18&to=122&var=R79L	ENST00000248948		ENSG00000128218	12710		23	1.69		HGNC	p.R63L		VPREB3		SNV							ENST00000398465	protein_coding	getma.org/?cm=var&var=hg19,22,24095199,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF133,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/L		A	low	341/610		getma.org/?cm=msa&ty=f&p=VPRE3_HUMAN&rb=18&re=122&var=R79L	tolerated(0.07)				YES	VPREB3,missense_variant,p.Arg79Leu,ENST00000248948,NM_013378.2;VPREB3,missense_variant,p.Arg63Leu,ENST00000398465,;ZNF70,upstream_gene_variant,,ENST00000341976,NM_021916.2;							MODERATE	236/372	R79L	VPRE3_HUMAN			Transcript		benign(0.312)	.	ENSP00000248948		CCDS13813.1			1	
TTBK2	0	LGGM	GRCh37	15	43122137	43122137	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	3	.	.	ENST00000267890.6:c.431C>A	p.Pro144Gln	p.P144Q	ENST00000267890	NM_173500.3	144	cCg/cAg	0	1	1	UPI0000043542	0	getma.org/pdb.php?prot=TTBK2_HUMAN&from=21&to=268&var=P144Q	ENST00000267890		ENSG00000128881	19141		42	4.005		HGNC	p.R99S		TTBK2		SNV			1				ENST00000564431	protein_coding	getma.org/?cm=var&var=hg19,15,43122137,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF83,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/Q		T	high	540/10905		getma.org/?cm=msa&ty=f&p=TTBK2_HUMAN&rb=21&re=268&var=P144Q	deleterious(0)	H3BTY5_HUMAN			YES	TTBK2,missense_variant,p.Pro144Gln,ENST00000267890,NM_173500.3;TTBK2,missense_variant,p.Pro144Gln,ENST00000567840,;TTBK2,missense_variant,p.Pro144Gln,ENST00000567274,;TTBK2,missense_variant,p.Arg99Ser,ENST00000564431,;TTBK2,downstream_gene_variant,,ENST00000562880,;TTBK2,downstream_gene_variant,,ENST00000566931,;							MODERATE	431/3735	P144Q	TTBK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000267890		CCDS42029.1			1	
TNRC6B	0	LGGM	GRCh37	22	40706847	40706847	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000454349.2:c.4285C>A	p.Arg1429=	p.R1429=	ENST00000454349	NM_001162501.1	1429	Cgg/Agg	0	1	1	UPI00017A6F19	0		ENST00000454349		ENSG00000100354	29190		15			HGNC	p.R1429R		TNRC6B		SNV							ENST00000454349	protein_coding			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		R		A		4496/18279							YES	TNRC6B,synonymous_variant,p.=,ENST00000454349,NM_001162501.1;TNRC6B,synonymous_variant,p.=,ENST00000335727,NM_015088.2;TNRC6B,synonymous_variant,p.=,ENST00000301923,NM_001024843.1;TNRC6B,synonymous_variant,p.=,ENST00000446273,;TNRC6B,synonymous_variant,p.=,ENST00000402203,;							LOW	4285/5502		TNR6B_HUMAN			Transcript			.	ENSP00000401946		CCDS54533.1			1	
TCOF1	0	LGGM	GRCh37	5	149767629	149767629	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000504761.2:c.3024C>A	p.Pro1008=	p.P1008=	ENST00000504761		1008	ccC/ccA	0	1		UPI000020CF90	0		ENST00000377797		ENSG00000070814	11654		19			HGNC	p.P1008P		TCOF1		SNV			1				ENST00000377797	protein_coding			hmmpanther:PTHR20787		P		A		3132/5098				Q9UFD4_HUMAN				TCOF1,synonymous_variant,p.=,ENST00000451292,;TCOF1,synonymous_variant,p.=,ENST00000377797,NM_001135243.1;TCOF1,synonymous_variant,p.=,ENST00000323668,NM_000356.3;TCOF1,synonymous_variant,p.=,ENST00000445265,NM_001135245.1;TCOF1,synonymous_variant,p.=,ENST00000513346,;TCOF1,synonymous_variant,p.=,ENST00000439160,NM_001135244.1,NM_001195141.1;TCOF1,synonymous_variant,p.=,ENST00000504761,;TCOF1,synonymous_variant,p.=,ENST00000427724,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,downstream_gene_variant,,ENST00000394269,NM_001008657.2;TCOF1,downstream_gene_variant,,ENST00000513538,;TCOF1,3_prime_UTR_variant,,ENST00000506767,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,upstream_gene_variant,,ENST00000506630,;							LOW	3024/4470		TCOF_HUMAN			Transcript			.	ENSP00000367028					1	
RABAC1	0	LGGM	GRCh37	19	42462951	42462951	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000222008.6:c.206G>A	p.Arg69His	p.R69H	ENST00000222008	NM_006423.2	69	cGc/cAc	0	1	1	UPI000006F3F6	0	NA	ENST00000222008		ENSG00000105404	9794		10	1.425		HGNC	p.R69H		RABAC1		SNV							ENST00000601891	protein_coding	getma.org/?cm=var&var=hg19,19,42462951,C,T&fts=all		Pfam_domain:PF03208,hmmpanther:PTHR19317		R/H		T	low	304/821		getma.org/?cm=msa&ty=f&p=PRAF1_HUMAN&rb=34&re=184&var=R69H	deleterious(0.02)	M0QXU8_HUMAN			YES	RABAC1,missense_variant,p.Arg69His,ENST00000222008,NM_006423.2;RABAC1,missense_variant,p.Arg61His,ENST00000600292,;RABAC1,missense_variant,p.Arg69His,ENST00000601891,;RABAC1,missense_variant,p.Arg39His,ENST00000601028,;RABAC1,5_prime_UTR_variant,,ENST00000601078,;RABAC1,non_coding_transcript_exon_variant,,ENST00000599219,;RABAC1,non_coding_transcript_exon_variant,,ENST00000601476,;RABAC1,non_coding_transcript_exon_variant,,ENST00000596171,;RABAC1,upstream_gene_variant,,ENST00000595226,;RABAC1,upstream_gene_variant,,ENST00000598057,;							MODERATE	206/558	R69H	PRAF1_HUMAN			Transcript		benign(0.096)	.	ENSP00000222008		CCDS12593.1			1	
RYR1	0	LGGM	GRCh37	19	39062838	39062838	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	3	.	.	ENST00000359596.3:c.13926C>A	p.Pro4642=	p.P4642=	ENST00000359596		4642	ccC/ccA	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		32			HGNC	p.P4637P		RYR1		SNV			1				ENST00000355481	protein_coding			Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		P		A		13926/15117				O75591_HUMAN,B4DET7_HUMAN			YES	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.=,ENST00000593677,;							LOW	13926/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
SCN10A	0	LGGM	GRCh37	3	38793973	38793973	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000449082.2:c.1492C>A	p.Arg498=	p.R498=	ENST00000449082	NM_006514.2	498	Cgg/Agg	0	1	1	UPI0000209BDA	0		ENST00000449082		ENSG00000185313	10582		19			HGNC	p.R498R		SCN10A		SNV			1				ENST00000449082	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23		R		T		1492/6418							YES	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_006514.2;							LOW	1492/5871		SCNAA_HUMAN			Transcript			.	ENSP00000390600		CCDS33736.1			1	
KPRP	0	LGGM	GRCh37	1	152733221	152733221	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	3	.	.	ENST00000368773.1:c.1157G>C	p.Arg386Pro	p.R386P	ENST00000368773	NM_001025231.1	386	cGg/cCg	0	1		UPI0000199942	0	NA	ENST00000606109		ENSG00000203786	31823		43	0.895		HGNC	p.R386P		KPRP		SNV							ENST00000368773	protein_coding	getma.org/?cm=var&var=hg19,1,152733221,G,C&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98		R/P		C	low	1185/2492		getma.org/?cm=msa&ty=f&p=KPRP_HUMAN&rb=201&re=400&var=R386P	deleterious_low_confidence(0.04)					KPRP,missense_variant,p.Arg386Pro,ENST00000368773,NM_001025231.1;KPRP,missense_variant,p.Arg386Pro,ENST00000606109,;							MODERATE	1157/1740	R386P	KPRP_HUMAN			Transcript		benign(0.02)	.	ENSP00000475216		CCDS30862.1			1	
LTK	0	LGGM	GRCh37	15	41796560	41796560	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	3	.	.	ENST00000263800.6:c.2326C>A	p.Arg776Ser	p.R776S	ENST00000263800	NM_002344.5	776	Cgt/Agt	0	1	1	UPI000013D463	0	getma.org/pdb.php?prot=LTK_HUMAN&from=510&to=777&var=R776S	ENST00000263800		ENSG00000062524	6721		14	0.725		HGNC	p.R474S		LTK		SNV							ENST00000561619	protein_coding	getma.org/?cm=var&var=hg19,15,41796560,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112		R/S		T	neutral	2423/3046		getma.org/?cm=msa&ty=f&p=LTK_HUMAN&rb=510&re=777&var=R776S	deleterious_low_confidence(0.02)				YES	LTK,missense_variant,p.Arg776Ser,ENST00000263800,NM_002344.5;LTK,missense_variant,p.Arg715Ser,ENST00000355166,NM_206961.3;LTK,missense_variant,p.Arg646Ser,ENST00000453182,NM_001135685.1;LTK,missense_variant,p.Arg474Ser,ENST00000561619,;ITPKA,downstream_gene_variant,,ENST00000260386,NM_002220.2;ITPKA,downstream_gene_variant,,ENST00000425927,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;ITPKA,downstream_gene_variant,,ENST00000462816,;LTK,downstream_gene_variant,,ENST00000569283,;ITPKA,downstream_gene_variant,,ENST00000491007,;							MODERATE	2326/2595	R776S	LTK_HUMAN			Transcript		benign(0.29)	.	ENSP00000263800		CCDS10077.1			1	
WIPF1	0	LGGM	GRCh37	2	175436483	175436483	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	3	.	.	ENST00000392547.2:c.1050G>T	p.Ser350=	p.S350=	ENST00000392547	NM_003387.4	350	tcG/tcT	0	1		UPI000013D4BD	0		ENST00000359761		ENSG00000115935	12736		30			HGNC	p.S350S		WIPF1		SNV			1				ENST00000272746	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF30,hmmpanther:PTHR23202		S		A		1198/2003				C9JTB9_HUMAN				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,synonymous_variant,p.=,ENST00000409415,;WIPF1,downstream_gene_variant,,ENST00000410117,;WIPF1,downstream_gene_variant,,ENST00000455428,;WIPF1,downstream_gene_variant,,ENST00000436221,;AC018890.6,intron_variant,,ENST00000442996,;AC018890.6,intron_variant,,ENST00000412835,;AC010894.5,upstream_gene_variant,,ENST00000454203,;WIPF1,upstream_gene_variant,,ENST00000467149,;							LOW	1050/1512		WIPF1_HUMAN			Transcript			.	ENSP00000352802		CCDS2260.1			1	
SPATA31E1	0	LGGM	GRCh37	9	90503533	90503533	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	3	.	.	ENST00000325643.5:c.4131C>G	p.Cys1377Trp	p.C1377W	ENST00000325643	NM_178828.4	1377	tgC/tgG	0	1	1	UPI000036764A	0	NA	ENST00000325643		ENSG00000177992	26672		20	1.04		HGNC	p.C1377W		SPATA31E1		SNV							ENST00000325643	protein_coding	getma.org/?cm=var&var=hg19,9,90503533,C,G&fts=all		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF11		C/W		G	low	4197/4478		getma.org/?cm=msa&ty=f&p=F75E1_HUMAN&rb=1201&re=1400&var=C1377W	tolerated(0.17)				YES	SPATA31E1,missense_variant,p.Cys1377Trp,ENST00000325643,NM_178828.4;							MODERATE	4131/4338	C1377W	S31E1_HUMAN			Transcript		possibly_damaging(0.66)	.	ENSP00000322640		CCDS6676.1			1	
FGF18	0	LGGM	GRCh37	5	170876180	170876180	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	3	.	.	ENST00000274625.5:c.280G>T	p.Gly94Cys	p.G94C	ENST00000274625	NM_003862.2	94	Ggt/Tgt	0	1	1	UPI000003C116	0	getma.org/pdb.php?prot=FGF18_HUMAN&from=53&to=175&var=G94C	ENST00000274625		ENSG00000156427	3674		29	3.965		HGNC	p.G94C		FGF18		SNV							ENST00000274625	protein_coding	getma.org/?cm=var&var=hg19,5,170876180,G,T&fts=all		hmmpanther:PTHR11486:SF4,hmmpanther:PTHR11486,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00262		G/C		T	high	824/1986		getma.org/?cm=msa&ty=f&p=FGF18_HUMAN&rb=53&re=175&var=G94C	deleterious(0)				YES	FGF18,missense_variant,p.Gly94Cys,ENST00000274625,NM_003862.2;							MODERATE	280/624	G94C	FGF18_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000274625		CCDS4378.1			1	
ZC3H12B	0	LGGM	GRCh37	X	64722748	64722748	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	3	.	.	ENST00000338957.4:c.2170C>A	p.Arg724=	p.R724=	ENST00000338957	NM_001010888.3	724	Cgg/Agg	0	1	1	UPI00001D7BEA	0		ENST00000338957		ENSG00000102053	17407		32			HGNC	p.R724R	rs753390684	ZC3H12B		SNV							ENST00000338957	protein_coding			hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876		R		A		2237/7256	2.12E-05			E9PAJ6_HUMAN			YES	ZC3H12B,synonymous_variant,p.=,ENST00000338957,NM_001010888.3;ZC3H12B,synonymous_variant,p.=,ENST00000423889,;							LOW	2170/2511					Transcript			.	ENSP00000340839	2.47E-05	CCDS48131.2			1	
SCUBE2	0	LGGM	GRCh37	11	9048981	9048981	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000520467.1:c.2460G>T	p.Leu820=	p.L820=	ENST00000520467	NM_020974.2	820	ctG/ctT	0	1	1	UPI0001E5E848	0		ENST00000520467		ENSG00000175356	30425		11			HGNC	p.L820L		SCUBE2		SNV							ENST00000520467	protein_coding			PROSITE_profiles:PS01180,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF3,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854		L		A		2531/3148							YES	SCUBE2,synonymous_variant,p.=,ENST00000457346,;SCUBE2,synonymous_variant,p.=,ENST00000309263,;SCUBE2,synonymous_variant,p.=,ENST00000520467,NM_020974.2;SCUBE2,synonymous_variant,p.=,ENST00000519202,;SCUBE2,synonymous_variant,p.=,ENST00000528651,;SCUBE2,intron_variant,,ENST00000450649,NM_001170690.1;RP11-467K18.2,intron_variant,,ENST00000531592,;SCUBE2,upstream_gene_variant,,ENST00000532532,;SCUBE2,upstream_gene_variant,,ENST00000524317,;SCUBE2,downstream_gene_variant,,ENST00000519535,;							LOW	2460/2916		SCUB2_HUMAN			Transcript			.	ENSP00000429969		CCDS7797.2			1	
TGFB3	0	LGGM	GRCh37	14	76425683	76425683	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	4	3	.	.	ENST00000238682.3:c.1086G>T	p.Leu362=	p.L362=	ENST00000238682	NM_003239.2	362	ctG/ctT	0	1	1	UPI000000D8EC	0		ENST00000238682		ENSG00000119699	11769		7			HGNC	p.L362L		TGFB3		SNV			1				ENST00000238682	protein_coding			Gene3D:2.10.90.10,Pfam_domain:PF00019,PIRSF_domain:PIRSF001787,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF34,SMART_domains:SM00204,Superfamily_domains:SSF57501		L		A		1384/2522				Q8WV88_HUMAN,Q6TV16_HUMAN,Q6TV15_HUMAN,Q6TV14_HUMAN,Q6LDJ6_HUMAN,A5YM40_HUMAN			YES	TGFB3,synonymous_variant,p.=,ENST00000238682,NM_003239.2;TTLL5,downstream_gene_variant,,ENST00000298832,NM_015072.4;TGFB3,downstream_gene_variant,,ENST00000556285,;TGFB3,non_coding_transcript_exon_variant,,ENST00000556507,;TTLL5,downstream_gene_variant,,ENST00000554972,;TGFB3,downstream_gene_variant,,ENST00000557493,;TTLL5,downstream_gene_variant,,ENST00000554487,;TGFB3,non_coding_transcript_exon_variant,,ENST00000554980,;IFT43,intron_variant,,ENST00000555677,;							LOW	1086/1239		TGFB3_HUMAN			Transcript			.	ENSP00000238682		CCDS9846.1			1	
XKR7	0	LGGM	GRCh37	20	30556196	30556196	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	3	.	.	ENST00000562532.2:c.218C>A	p.Thr73Lys	p.T73K	ENST00000562532	NM_001011718.1	73	aCg/aAg	0	1	1	UPI00004C7A9E	0	NA	ENST00000562532		ENSG00000260903	23062		16	2.505		HGNC	p.T73K		XKR7		SNV							ENST00000217299	protein_coding	getma.org/?cm=var&var=hg19,20,30556196,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9,Pfam_domain:PF09815		T/K		A	medium	392/7844		getma.org/?cm=msa&ty=f&p=XKR7_HUMAN&rb=56&re=442&var=T73K	deleterious(0)				YES	XKR7,missense_variant,p.Thr73Lys,ENST00000562532,NM_001011718.1;							MODERATE	218/1740	T73K	XKR7_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000477059		CCDS33459.1			1	
AGO4	0	LGGM	GRCh37	1	36319101	36319101	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000373210.3:c.2481G>T	p.Ala827=	p.A827=	ENST00000373210	NM_017629.3	827	gcG/gcT	0	1	1	UPI00001684D9	0		ENST00000373210		ENSG00000134698	18424		33			HGNC	p.A827A		AGO4		SNV							ENST00000373210	protein_coding			HAMAP:MF_03033,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF26		A		T		2726/7116				Q9NXV9_HUMAN			YES	AGO4,synonymous_variant,p.=,ENST00000373210,NM_017629.3;AGO4,non_coding_transcript_exon_variant,,ENST00000496257,;AGO4,downstream_gene_variant,,ENST00000488778,;							LOW	2481/2586		AGO4_HUMAN			Transcript			.	ENSP00000362306		CCDS397.1			1	
ATP2A3	0	LGGM	GRCh37	17	3854064	3854064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	1	3	.	.	ENST00000359983.3:c.467G>T	p.Gly156Val	p.G156V	ENST00000359983		156	gGg/gTg	0	1		UPI00001261E5	0	getma.org/pdb.php?prot=AT2A3_HUMAN&from=93&to=341&var=G156V	ENST00000352011		ENSG00000074370	813		4	4.975		HGNC	p.G156V		ATP2A3		SNV							ENST00000397035	protein_coding	getma.org/?cm=var&var=hg19,17,3854064,C,A&fts=all		Superfamily_domains:0049471,TIGRFAM_domain:TIGR01116,TIGRFAM_domain:TIGR01494,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF280		G/V		A	high	522/3274		getma.org/?cm=msa&ty=f&p=AT2A3_HUMAN&rb=93&re=341&var=G156V	deleterious(0)					ATP2A3,missense_variant,p.Gly156Val,ENST00000309890,NM_174954.2,NM_174953.2,NM_174955.2,NM_174956.2;ATP2A3,missense_variant,p.Gly156Val,ENST00000397041,NM_005173.3,NM_174957.2;ATP2A3,missense_variant,p.Gly156Val,ENST00000397035,NM_174958.2;ATP2A3,missense_variant,p.Gly156Val,ENST00000359983,;ATP2A3,missense_variant,p.Gly156Val,ENST00000352011,;ATP2A3,missense_variant,p.Gly156Val,ENST00000397043,;ATP2A3,5_prime_UTR_variant,,ENST00000397039,;ATP2A3,downstream_gene_variant,,ENST00000574202,;							MODERATE	467/3132	G156V	AT2A3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000301387		CCDS11041.1			1	
DBP	0	LGGM	GRCh37	19	49136900	49136900	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	3	.	.	ENST00000222122.5:c.563G>T	p.Arg188Leu	p.R188L	ENST00000222122	NM_001352.3	188	cGg/cTg	0	1	1	UPI0000000CC1	0	NA	ENST00000222122		ENSG00000105516	2697		30	1.815		HGNC	p.R188L		DBP		SNV							ENST00000222122	protein_coding	getma.org/?cm=var&var=hg19,19,49136900,C,A&fts=all		hmmpanther:PTHR11988,hmmpanther:PTHR11988:SF7		R/L		A	low	1007/2229		getma.org/?cm=msa&ty=f&p=DBP_HUMAN&rb=1&re=200&var=R188L	deleterious(0.01)	M0QXW3_HUMAN			YES	DBP,missense_variant,p.Arg188Leu,ENST00000222122,NM_001352.3;DBP,missense_variant,p.Arg188Leu,ENST00000601104,;DBP,5_prime_UTR_variant,,ENST00000593500,;DBP,5_prime_UTR_variant,,ENST00000599385,;SPHK2,downstream_gene_variant,,ENST00000443164,;SPHK2,downstream_gene_variant,,ENST00000599029,;SPHK2,downstream_gene_variant,,ENST00000245222,NM_001204158.2,NM_020126.4,NM_001243876.1;SPHK2,downstream_gene_variant,,ENST00000598088,NM_001204159.2;SPHK2,downstream_gene_variant,,ENST00000599748,NM_001204160.2;SPHK2,downstream_gene_variant,,ENST00000340932,;SPHK2,downstream_gene_variant,,ENST00000600537,;CA11,downstream_gene_variant,,ENST00000084798,NM_001217.3;SPHK2,downstream_gene_variant,,ENST00000601712,;CA11,downstream_gene_variant,,ENST00000596080,;SEC1P,upstream_gene_variant,,ENST00000430145,;SEC1P,upstream_gene_variant,,ENST00000474419,;SEC1P,upstream_gene_variant,,ENST00000483163,;DBP,non_coding_transcript_exon_variant,,ENST00000594723,;SPHK2,downstream_gene_variant,,ENST00000597434,;SPHK2,downstream_gene_variant,,ENST00000426514,;CA11,downstream_gene_variant,,ENST00000599267,;CA11,downstream_gene_variant,,ENST00000594088,;SEC1P,upstream_gene_variant,,ENST00000521217,;							MODERATE	563/978	R188L	DBP_HUMAN			Transcript		possibly_damaging(0.49)	.	ENSP00000222122		CCDS12728.1			1	
RP11-201K10.3	0	LGGM	GRCh37	1	155145238	155145238	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	3	.	.	ENST00000473363.2:c.337G>T	p.Gly113Trp	p.G113W	ENST00000473363		113	Ggg/Tgg	0	1	1	UPI0003B928F7	0		ENST00000473363		ENSG00000273088			22			Clone_based_vega_gene	p.S71S		RP11-201K10.3		SNV							ENST00000295682	protein_coding					G/W		A		337/753							YES	RP11-201K10.3,missense_variant,p.Gly113Trp,ENST00000473363,;KRTCAP2,synonymous_variant,p.=,ENST00000295682,NM_173852.3;TRIM46,upstream_gene_variant,,ENST00000392451,;TRIM46,upstream_gene_variant,,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,upstream_gene_variant,,ENST00000334634,NM_001282378.1,NM_001256601.1;TRIM46,upstream_gene_variant,,ENST00000368383,;TRIM46,upstream_gene_variant,,ENST00000545012,;TRIM46,upstream_gene_variant,,ENST00000368385,NM_001282379.1;TRIM46,upstream_gene_variant,,ENST00000543729,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000490672,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000487350,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000491084,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000471891,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000497317,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000463527,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000492892,;KRTCAP2,non_coding_transcript_exon_variant,,ENST00000482246,;KRTCAP2,intron_variant,,ENST00000461136,;TRIM46,upstream_gene_variant,,ENST00000468878,;TRIM46,upstream_gene_variant,,ENST00000474430,;TRIM46,upstream_gene_variant,,ENST00000464760,;							MODERATE	337/753					Transcript		unknown(0)	.	ENSP00000477381					1	
CSF3R	0	LGGM	GRCh37	1	36934775	36934775	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000361632.4:c.1558G>T	p.Ala520Ser	p.A520S	ENST00000361632		520	Gcc/Tcc	0	1		UPI000004CAC4	0	getma.org/pdb.php?prot=CSF3R_HUMAN&from=430&to=522&var=A520S	ENST00000361632		ENSG00000119535	2439		11	2.365		HGNC	p.A520S		CSF3R		SNV			1				ENST00000418048	protein_coding	getma.org/?cm=var&var=hg19,1,36934775,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF75,hmmpanther:PTHR23036,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		A/S		A	medium	1620/2886		getma.org/?cm=msa&ty=f&p=CSF3R_HUMAN&rb=430&re=522&var=A520S	deleterious(0)	E9PK56_HUMAN				CSF3R,missense_variant,p.Ala520Ser,ENST00000373103,NM_156039.3;CSF3R,missense_variant,p.Ala520Ser,ENST00000373106,NM_000760.3;CSF3R,missense_variant,p.Ala520Ser,ENST00000373104,NM_172313.2;CSF3R,missense_variant,p.Ala520Ser,ENST00000361632,;CSF3R,missense_variant,p.Ala520Ser,ENST00000418048,;CSF3R,missense_variant,p.Ala520Ser,ENST00000338937,;CSF3R,missense_variant,p.Ala520Ser,ENST00000440588,;CSF3R,missense_variant,p.Ala520Ser,ENST00000331941,;CSF3R,intron_variant,,ENST00000464465,;MRPS15,upstream_gene_variant,,ENST00000373116,NM_031280.3;CSF3R,non_coding_transcript_exon_variant,,ENST00000487540,;MRPS15,upstream_gene_variant,,ENST00000462067,;CSF3R,non_coding_transcript_exon_variant,,ENST00000480825,;CSF3R,non_coding_transcript_exon_variant,,ENST00000464365,;CSF3R,upstream_gene_variant,,ENST00000484762,;CSF3R,upstream_gene_variant,,ENST00000466138,;CSF3R,downstream_gene_variant,,ENST00000469380,;							MODERATE	1558/2511	A520S	CSF3R_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000355406		CCDS413.1			1	
YY1	0	LGGM	GRCh37	14	100743827	100743827	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	3	.	.	ENST00000262238.4:c.1135G>T	p.Gly379Ter	p.G379*	ENST00000262238	NM_003403.4	379	Gga/Tga	0	1	1	UPI00001378FC	0	NA	ENST00000262238		ENSG00000100811	12856		32	0		HGNC	p.G379X		YY1		SNV			1				ENST00000262238	protein_coding	getma.org/?cm=var&var=hg19,14,100743827,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR14003:SF10,hmmpanther:PTHR14003,Pfam_domain:PF13465,Gene3D:3.30.160.60,PIRSF_domain:PIRSF037113,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/*		T	NA	1395/6697		NA		G3V3M8_HUMAN			YES	YY1,stop_gained,p.Gly379Ter,ENST00000262238,NM_003403.4;YY1,stop_gained,p.Gly155Ter,ENST00000554804,;YY1,downstream_gene_variant,,ENST00000553625,;AL157871.2,downstream_gene_variant,,ENST00000553954,;YY1,non_coding_transcript_exon_variant,,ENST00000554579,;							HIGH	1135/1245	G379*	TYY1_HUMAN			Transcript			.	ENSP00000262238		CCDS9957.1			1	
PCED1A	0	LGGM	GRCh37	20	2818988	2818988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	3	.	.	ENST00000360652.2:c.731G>T	p.Arg244Leu	p.R244L	ENST00000360652	NM_022760.4	244	cGg/cTg	0	1	1	UPI00001285EE	0	NA	ENST00000360652		ENSG00000132635	16212		26	1.59		HGNC	p.R193L		PCED1A		SNV							ENST00000448755	protein_coding	getma.org/?cm=var&var=hg19,20,2818988,C,A&fts=all		Gene3D:3.40.50.1110,Pfam_domain:PF13839,hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF3,Superfamily_domains:SSF52266		R/L		A	low	1234/2016		getma.org/?cm=msa&ty=f&p=F113A_HUMAN&rb=21&re=268&var=R244L	tolerated(0.08)				YES	PCED1A,missense_variant,p.Arg244Leu,ENST00000360652,NM_022760.4;PCED1A,missense_variant,p.Arg193Leu,ENST00000356872,NM_001271168.1;PCED1A,missense_variant,p.Arg244Leu,ENST00000439542,;PCED1A,missense_variant,p.Arg193Leu,ENST00000448755,;PCED1A,missense_variant,p.Arg9Leu,ENST00000474714,;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,intron_variant,,ENST00000487501,;							MODERATE	731/1365	R244L	PED1A_HUMAN			Transcript		benign(0.195)	.	ENSP00000353868		CCDS13035.1			1	
KDM3B	0	LGGM	GRCh37	5	137717269	137717269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000314358.5:c.770C>A	p.Pro257His	p.P257H	ENST00000314358	NM_016604.3	257	cCt/cAt	0	1	1	UPI000020C6A8	0	NA	ENST00000314358		ENSG00000120733	1337		18	0.345		HGNC	p.P193H		KDM3B		SNV							ENST00000510866	protein_coding	getma.org/?cm=var&var=hg19,5,137717269,C,A&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8		P/H		A	neutral	970/6813		getma.org/?cm=msa&ty=f&p=KDM3B_HUMAN&rb=244&re=443&var=P257H	tolerated(0.16)	F5H275_HUMAN			YES	KDM3B,missense_variant,p.Pro257His,ENST00000314358,NM_016604.3;KDM3B,upstream_gene_variant,,ENST00000394866,;KDM3B,upstream_gene_variant,,ENST00000542866,;KDM3B,missense_variant,p.Pro193His,ENST00000510866,;KDM3B,non_coding_transcript_exon_variant,,ENST00000512928,;KDM3B,upstream_gene_variant,,ENST00000507996,;							MODERATE	770/5286	P257H	KDM3B_HUMAN			Transcript		benign(0.131)	.	ENSP00000326563		CCDS34242.1			1	
VCP	0	LGGM	GRCh37	9	35066723	35066723	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000358901.6:c.394G>T	p.Glu132Ter	p.E132*	ENST00000358901	NM_007126.3	132	Gag/Tag	0	1	1	UPI000005FB2E	0	NA	ENST00000358901		ENSG00000165280	12666		19	0		HGNC	p.E132X		VCP		SNV			1				ENST00000358901	protein_coding	getma.org/?cm=var&var=hg19,9,35066723,C,A&fts=all		Gene3D:3.10.330.10,Pfam_domain:PF02933,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF69,SMART_domains:SM01072,Superfamily_domains:SSF54585,TIGRFAM_domain:TIGR01243		E/*		A	NA	1290/4370		NA		Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN			YES	VCP,stop_gained,p.Glu132Ter,ENST00000358901,NM_007126.3;VCP,stop_gained,p.Glu87Ter,ENST00000448530,;VCP,stop_gained,p.Glu87Ter,ENST00000417448,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;							HIGH	394/2421	E132*	TERA_HUMAN			Transcript			.	ENSP00000351777		CCDS6573.1			1	
DTX2	0	LGGM	GRCh37	7	76109980	76109980	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	2	3	.	.	ENST00000324432.5:c.154C>A	p.Gln52Lys	p.Q52K	ENST00000324432	NM_020892.2	52	Caa/Aaa	0	1	1	UPI00001413A2	0	NA	ENST00000324432		ENSG00000091073	15973		5	1.7		HGNC	p.Q52K		DTX2		SNV							ENST00000435861	protein_coding	getma.org/?cm=var&var=hg19,7,76109980,C,A&fts=all		Superfamily_domains:SSF117839,SMART_domains:SM00678,Pfam_domain:PF02825,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21,PROSITE_profiles:PS50918		Q/K		A	low	664/2769		getma.org/?cm=msa&ty=f&p=DTX2_HUMAN&rb=13&re=97&var=Q52K	tolerated(0.89)	Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN			YES	DTX2,missense_variant,p.Gln52Lys,ENST00000324432,NM_020892.2;DTX2,missense_variant,p.Gln52Lys,ENST00000307569,;DTX2,missense_variant,p.Gln52Lys,ENST00000430490,NM_001102594.1;DTX2,missense_variant,p.Gln52Lys,ENST00000413936,NM_001102595.1;DTX2,missense_variant,p.Gln52Lys,ENST00000446820,NM_001102596.1;DTX2,missense_variant,p.Gln52Lys,ENST00000423646,;DTX2,missense_variant,p.Gln52Lys,ENST00000457529,;DTX2,missense_variant,p.Gln52Lys,ENST00000425780,;DTX2,missense_variant,p.Gln52Lys,ENST00000438930,;DTX2,missense_variant,p.Gln52Lys,ENST00000429179,;DTX2,missense_variant,p.Gln52Lys,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,;							MODERATE	154/1869	Q52K	DTX2_HUMAN			Transcript		possibly_damaging(0.74)	.	ENSP00000322885		CCDS5587.1			1	
RECK	0	LGGM	GRCh37	9	36100521	36100521	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	3	.	.	ENST00000377966.3:c.1279C>A	p.Arg427=	p.R427=	ENST00000377966	NM_021111.2	427	Cgg/Agg	0	1	1	UPI0000133587	0		ENST00000377966		ENSG00000122707	11345		25			HGNC	p.R427R		RECK		SNV							ENST00000377966	protein_coding			hmmpanther:PTHR13487		R		A		1845/4888							YES	RECK,synonymous_variant,p.=,ENST00000377966,NM_021111.2;							LOW	1279/2916		RECK_HUMAN			Transcript			.	ENSP00000367202		CCDS6597.1			1	
TTLL3	0	LGGM	GRCh37	3	9877165	9877165	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	3	.	.	ENST00000426895.4:c.2740A>G	p.Arg914Gly	p.R914G	ENST00000426895		914	Aga/Gga	0	1	1	UPI0001B79456	0	NA	ENST00000426895		ENSG00000214021	24483		31	0		HGNC	p.R914G		TTLL3		SNV							ENST00000426895	protein_coding	getma.org/?cm=var&var=hg19,3,9877165,A,G&fts=all				R/G		G	neutral	2759/2767		getma.org/?cm=msa&ty=f&p=TTLL3_HUMAN&rb=706&re=772&var=R771G	deleterious_low_confidence(0)	J3KQB2_HUMAN,C9JW59_HUMAN,C9JQ30_HUMAN			YES	TTLL3,missense_variant,p.Arg771Gly,ENST00000547186,NM_001025930.3;TTLL3,missense_variant,p.Arg914Gly,ENST00000426895,;TTLL3,3_prime_UTR_variant,,ENST00000383827,;TTLL3,3_prime_UTR_variant,,ENST00000397241,;TTLL3,intron_variant,,ENST00000455274,;ARPC4-TTLL3,downstream_gene_variant,,ENST00000397256,NM_001198793.1;TTLL3,downstream_gene_variant,,ENST00000430793,;TTLL3,downstream_gene_variant,,ENST00000443148,;TTLL3,downstream_gene_variant,,ENST00000310252,;TTLL3,downstream_gene_variant,,ENST00000427853,;RPUSD3,downstream_gene_variant,,ENST00000383820,NM_173659.3;RPUSD3,downstream_gene_variant,,ENST00000433535,NM_001142547.1;RPUSD3,downstream_gene_variant,,ENST00000424438,;RPUSD3,downstream_gene_variant,,ENST00000418713,;RPUSD3,downstream_gene_variant,,ENST00000427174,;RPUSD3,downstream_gene_variant,,ENST00000423108,;TTLL3,downstream_gene_variant,,ENST00000471058,;TTLL3,non_coding_transcript_exon_variant,,ENST00000483051,;TTLL3,downstream_gene_variant,,ENST00000496526,;TTLL3,downstream_gene_variant,,ENST00000473661,;TTLL3,downstream_gene_variant,,ENST00000427220,;RPUSD3,downstream_gene_variant,,ENST00000484134,;RPUSD3,downstream_gene_variant,,ENST00000475470,;TTLL3,downstream_gene_variant,,ENST00000438141,;TTLL3,downstream_gene_variant,,ENST00000430390,;RPUSD3,downstream_gene_variant,,ENST00000464783,;RPUSD3,downstream_gene_variant,,ENST00000466141,;TTLL3,downstream_gene_variant,,ENST00000493241,;							MODERATE	2740/2748	R771G				Transcript		possibly_damaging(0.765)	.	ENSP00000392549		CCDS43048.2			1	
TESK1	0	LGGM	GRCh37	9	35607943	35607943	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	3	.	.	ENST00000336395.5:c.730G>T	p.Gly244Trp	p.G244W	ENST00000336395	NM_006285.2	244	Ggg/Tgg	0	1	1	UPI0000074302	0	getma.org/pdb.php?prot=TESK1_HUMAN&from=57&to=311&var=G244W	ENST00000336395		ENSG00000107140	11731		29	4.495		HGNC	p.G244W		TESK1		SNV							ENST00000336395	protein_coding	getma.org/?cm=var&var=hg19,9,35607943,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112,Prints_domain:PR00109		G/W		T	high	980/2421		getma.org/?cm=msa&ty=f&p=TESK1_HUMAN&rb=57&re=311&var=G244W	deleterious(0)	Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN			YES	TESK1,missense_variant,p.Gly244Trp,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,;TESK1,non_coding_transcript_exon_variant,,ENST00000467424,;TESK1,non_coding_transcript_exon_variant,,ENST00000463897,;TESK1,non_coding_transcript_exon_variant,,ENST00000480077,;CD72,downstream_gene_variant,,ENST00000490239,;							MODERATE	730/1881	G244W	TESK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000338127		CCDS6580.1			1	
MCM10	0	LGGM	GRCh37	10	13224989	13224989	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	3	.	.	ENST00000484800.2:c.990G>T	p.Val330=	p.V330=	ENST00000484800		330	gtG/gtT	0	1	1	UPI000013C5E2	0		ENST00000484800		ENSG00000065328	18043		48			HGNC	p.V329V		MCM10		SNV							ENST00000378714	protein_coding			hmmpanther:PTHR13454		V		T		1093/3157				C9J600_HUMAN			YES	MCM10,synonymous_variant,p.=,ENST00000378694,;MCM10,synonymous_variant,p.=,ENST00000378714,NM_018518.4,NM_182751.2;MCM10,synonymous_variant,p.=,ENST00000484800,;							LOW	990/2628		MCM10_HUMAN			Transcript			.	ENSP00000418268		CCDS7096.1			1	
METRNL	0	LGGM	GRCh37	17	81042987	81042987	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000320095.7:c.344C>A	p.Ser115Ter	p.S115*	ENST00000320095	NM_001004431.1	115	tCg/tAg	0	1	1	UPI000002F84C	0	NA	ENST00000320095		ENSG00000176845	27584		18	0		HGNC	p.S33X		METRNL		SNV							ENST00000571814	protein_coding	getma.org/?cm=var&var=hg19,17,81042987,C,A&fts=all				S/*		A	NA	469/1605		NA		Q147U6_HUMAN,B3KSJ5_HUMAN			YES	METRNL,stop_gained,p.Ser33Ter,ENST00000571814,;METRNL,stop_gained,p.Ser115Ter,ENST00000320095,NM_001004431.1;METRNL,stop_gained,p.Ser33Ter,ENST00000570778,;							HIGH	344/936	S115*	METRL_HUMAN			Transcript			.	ENSP00000315731		CCDS32779.1			1	
DCLK2	0	LGGM	GRCh37	4	151023731	151023731	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000302176.8:c.523C>A	p.Arg175=	p.R175=	ENST00000302176	NM_001040261.4	175	Cga/Aga	0	1		UPI0000D615C8	0		ENST00000296550		ENSG00000170390	19002		18			HGNC	p.R175R		DCLK2		SNV							ENST00000296550	protein_coding			hmmpanther:PTHR24347:SF122,hmmpanther:PTHR24347		R		A		1277/4265								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,;							LOW	523/2301		DCLK2_HUMAN			Transcript			.	ENSP00000296550		CCDS34076.1			1	
MYO9A	0	LGGM	GRCh37	15	72338652	72338652	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	3	.	.	ENST00000356056.5:c.253C>G	p.Arg85Gly	p.R85G	ENST00000356056	NM_006901.3	85	Cga/Gga	0	1	1	UPI000013D213	0	NA	ENST00000356056		ENSG00000066933	7608		39	2.445		HGNC	p.R85G		MYO9A		SNV							ENST00000564571	protein_coding	getma.org/?cm=var&var=hg19,15,72338652,G,C&fts=all		PROSITE_profiles:PS50200,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236		R/G		C	medium	726/12409		getma.org/?cm=msa&ty=f&p=MYO9A_HUMAN&rb=14&re=112&var=R85G	deleterious(0)	H3BSU8_HUMAN,H3BMS3_HUMAN			YES	MYO9A,missense_variant,p.Arg85Gly,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Arg85Gly,ENST00000424560,;MYO9A,missense_variant,p.Arg85Gly,ENST00000444904,;MYO9A,missense_variant,p.Arg85Gly,ENST00000564571,;MYO9A,missense_variant,p.Arg85Gly,ENST00000569314,;MYO9A,intron_variant,,ENST00000566885,;MYO9A,downstream_gene_variant,,ENST00000564931,;RNU2-65P,downstream_gene_variant,,ENST00000410162,;AC022872.1,upstream_gene_variant,,ENST00000411321,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567560,;MYO9A,upstream_gene_variant,,ENST00000568438,;RP11-390D11.2,upstream_gene_variant,,ENST00000564027,;							MODERATE	253/7647	R85G	MYO9A_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000348349		CCDS10239.1			1	
TRIB2	0	LGGM	GRCh37	2	12880580	12880580	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000155926.4:c.692C>A	p.Ser231Ter	p.S231*	ENST00000155926	NM_021643.3	231	tCg/tAg	0	1	1	UPI0000051C55	0	NA	ENST00000155926		ENSG00000071575	30809		24	0		HGNC	p.S231X		TRIB2		SNV							ENST00000155926	protein_coding	getma.org/?cm=var&var=hg19,2,12880580,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF11,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		S/*		A	NA	2111/4391		NA		F8WA18_HUMAN			YES	TRIB2,stop_gained,p.Ser231Ter,ENST00000155926,NM_021643.3;TRIB2,stop_gained,p.Ser95Ter,ENST00000381465,;MIR3125,downstream_gene_variant,,ENST00000579927,;							HIGH	692/1032	S231*	TRIB2_HUMAN			Transcript			.	ENSP00000155926		CCDS1683.1			1	
DUSP7	0	LGGM	GRCh37	3	52088145	52088145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	3	.	.	ENST00000495880.1:c.763G>T	p.Gly255Cys	p.G255C	ENST00000495880		255	Ggc/Tgc	0	1	1	UPI0000185FA8	0	getma.org/pdb.php?prot=DUS7_HUMAN&from=201&to=333&var=G255C	ENST00000495880		ENSG00000164086	3073		37	3.355		HGNC	p.G188C	COSM584319	DUSP7		SNV						1	ENST00000469623	protein_coding	getma.org/?cm=var&var=hg19,3,52088145,C,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00782,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF305,SMART_domains:SM00195,Superfamily_domains:SSF52799		G/C		A	medium	947/3340		getma.org/?cm=msa&ty=f&p=DUS7_HUMAN&rb=201&re=333&var=G255C	deleterious(0)				YES	DUSP7,missense_variant,p.Gly255Cys,ENST00000495880,;DUSP7,missense_variant,p.Gly204Cys,ENST00000296483,NM_001947.3;DUSP7,missense_variant,p.Gly188Cys,ENST00000469623,;					1		MODERATE	763/1260	G255C	DUS7_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000417183		CCDS33766.2			1	
SH3KBP1	0	LGGM	GRCh37	X	19560156	19560156	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000397821.3:c.1779G>T	p.Thr593=	p.T593=	ENST00000397821	NM_031892.2	593	acG/acT	0	1	1	UPI000006CC82	0		ENST00000397821		ENSG00000147010	13867		19			HGNC	p.T556T		SH3KBP1		SNV							ENST00000379698	protein_coding			hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF6		T		A		2070/4731				Q5JPT6_HUMAN,B7Z6E8_HUMAN			YES	SH3KBP1,synonymous_variant,p.=,ENST00000397821,NM_031892.2;SH3KBP1,synonymous_variant,p.=,ENST00000379716,NM_001184960.1;SH3KBP1,synonymous_variant,p.=,ENST00000379698,NM_001024666.2;SH3KBP1,synonymous_variant,p.=,ENST00000379726,;SH3KBP1,synonymous_variant,p.=,ENST00000541422,;							LOW	1779/1998		SH3K1_HUMAN			Transcript			.	ENSP00000380921		CCDS14193.1			1	
PPM1F	0	LGGM	GRCh37	22	22277815	22277815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000263212.5:c.1015G>T	p.Gly339Trp	p.G339W	ENST00000263212	NM_014634.3	339	Ggg/Tgg	0	1	1	UPI000012A61C	0	getma.org/pdb.php?prot=PPM1F_HUMAN&from=155&to=406&var=G339W	ENST00000263212		ENSG00000100034	19388		10	1.885		HGNC	p.G339W		PPM1F		SNV							ENST00000263212	protein_coding	getma.org/?cm=var&var=hg19,22,22277815,C,A&fts=all		Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF233,SMART_domains:SM00331,SMART_domains:SM00332,Superfamily_domains:SSF81606		G/W		A	low	1121/5143		getma.org/?cm=msa&ty=f&p=PPM1F_HUMAN&rb=155&re=406&var=G339W	deleterious(0)	Q6IPC0_HUMAN,Q0VGL7_HUMAN,C9J2F3_HUMAN,B5MCT7_HUMAN,A0M8Q2_HUMAN			YES	PPM1F,missense_variant,p.Gly171Trp,ENST00000407142,;PPM1F,missense_variant,p.Gly339Trp,ENST00000263212,NM_014634.3;PPM1F,missense_variant,p.Gly235Trp,ENST00000538191,;PPM1F,downstream_gene_variant,,ENST00000397495,;PPM1F,non_coding_transcript_exon_variant,,ENST00000496143,;PPM1F,downstream_gene_variant,,ENST00000484588,;							MODERATE	1015/1365	G339W	PPM1F_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263212		CCDS13796.1			1	
NTN1	0	LGGM	GRCh37	17	9086568	9086568	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	3	.	.	ENST00000173229.2:c.1411+282C>A		*471*	ENST00000173229	NM_004822.2			0	1	1	UPI000013C5C7	0		ENST00000173229		ENSG00000065320	8029		13			HGNC	p.A92D		NTN1		SNV							ENST00000436734	protein_coding							A		-/5954							YES	NTN1,missense_variant,p.Ala92Asp,ENST00000436734,;NTN1,intron_variant,,ENST00000173229,NM_004822.2;NTN1,intron_variant,,ENST00000538852,;NTN1,intron_variant,,ENST00000546090,;RP11-85B7.2,upstream_gene_variant,,ENST00000574307,;							MODIFIER	-/1815		NET1_HUMAN			Transcript			.	ENSP00000173229		CCDS11148.1			1	
ITGA7	0	LGGM	GRCh37	12	56091248	56091248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000553804.1:c.1504G>T	p.Gly502Cys	p.G502C	ENST00000553804	NM_001144996.1	502	Ggc/Tgc	0	1		UPI000013CF94	0	getma.org/pdb.php?prot=ITA7_HUMAN&from=515&to=1006&var=G542C	ENST00000555728		ENSG00000135424	6143		10	1.905		HGNC	p.G405C	rs565879205	ITGA7		SNV			1	9.75E-05			ENST00000452168	protein_coding	getma.org/?cm=var&var=hg19,12,56091248,C,A&fts=all	A:0.0008	hmmpanther:PTHR23220:SF72,hmmpanther:PTHR23220,Gene3D:1jv2A02,Pfam_domain:PF08441,Superfamily_domains:SSF69179		G/C		A	medium	1653/3930		getma.org/?cm=msa&ty=f&p=ITA7_HUMAN&rb=515&re=1006&var=G542C	deleterious(0.04)		A:0	A:0		ITGA7,missense_variant,p.Gly542Cys,ENST00000257880,;ITGA7,missense_variant,p.Gly502Cys,ENST00000394230,;ITGA7,missense_variant,p.Gly498Cys,ENST00000394229,;ITGA7,missense_variant,p.Gly498Cys,ENST00000257879,NM_002206.2;ITGA7,missense_variant,p.Gly498Cys,ENST00000347027,;ITGA7,missense_variant,p.Gly502Cys,ENST00000553804,NM_001144996.1;ITGA7,missense_variant,p.Gly542Cys,ENST00000555728,;ITGA7,missense_variant,p.Gly405Cys,ENST00000452168,NM_001144997.1;ITGA7,downstream_gene_variant,,ENST00000557257,;ITGA7,upstream_gene_variant,,ENST00000554327,;ITGA7,upstream_gene_variant,,ENST00000557058,;ITGA7,downstream_gene_variant,,ENST00000553276,;ITGA7,downstream_gene_variant,,ENST00000554543,;ITGA7,downstream_gene_variant,,ENST00000555687,;ITGA7,downstream_gene_variant,,ENST00000553737,;ITGA7,downstream_gene_variant,,ENST00000555809,;ITGA7,downstream_gene_variant,,ENST00000556273,;ITGA7,downstream_gene_variant,,ENST00000553893,;ITGA7,downstream_gene_variant,,ENST00000554724,;ITGA7,downstream_gene_variant,,ENST00000556371,;ITGA7,downstream_gene_variant,,ENST00000557488,;		A:0.0002					MODERATE	1624/3546	G542C	ITA7_HUMAN		A:0	Transcript		probably_damaging(0.989)	.	ENSP00000452387	8.24E-06			A:0	1	
TRIM35	0	LGGM	GRCh37	8	27145462	27145462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000305364.4:c.1087G>T	p.Gly363Trp	p.G363W	ENST00000305364	NM_171982.3	363	Ggg/Tgg	0	1	1	UPI00001649FB	0	getma.org/pdb.php?prot=TRI35_HUMAN&from=353&to=483&var=G363W	ENST00000305364		ENSG00000104228	16285		11	3.115		HGNC	p.G363W		TRIM35		SNV							ENST00000305364	protein_coding	getma.org/?cm=var&var=hg19,8,27145462,C,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF213,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		G/W		A	medium	1171/4229		getma.org/?cm=msa&ty=f&p=TRI35_HUMAN&rb=353&re=483&var=G363W	deleterious(0)				YES	TRIM35,missense_variant,p.Gly363Trp,ENST00000305364,NM_171982.3;TRIM35,3_prime_UTR_variant,,ENST00000521253,;TRIM35,intron_variant,,ENST00000521283,;							MODERATE	1087/1482	G363W	TRI35_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000301924		CCDS6056.2			1	
SRGAP1	0	LGGM	GRCh37	12	64410792	64410792	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	3	.	.	ENST00000355086.3:c.489G>T	p.Thr163=	p.T163=	ENST00000355086	NM_020762.2	163	acG/acT	0	1	1	UPI00001A9CB9	0		ENST00000355086		ENSG00000196935	17382		41			HGNC	p.T163T		SRGAP1		SNV							ENST00000357825	protein_coding			hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Superfamily_domains:SSF103657		T		T		1013/8943							YES	SRGAP1,splice_region_variant,p.=,ENST00000355086,NM_020762.2;SRGAP1,splice_region_variant,p.=,ENST00000357825,;SRGAP1,splice_region_variant,p.=,ENST00000543397,;SRGAP1,splice_region_variant,,ENST00000537556,;							LOW	489/3258		SRGP1_HUMAN			Transcript			.	ENSP00000347198		CCDS8967.1			1	
MORN1	0	LGGM	GRCh37	1	2319695	2319695	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	3	.	.	ENST00000378531.3:c.230G>T	p.Arg77Leu	p.R77L	ENST00000378531	NM_024848.1	77	cGg/cTg	0	1	1	UPI000007293C	0	NA	ENST00000378531		ENSG00000116151	25852		25	-0.615		HGNC	p.R77L		MORN1		SNV							ENST00000378529	protein_coding	getma.org/?cm=var&var=hg19,1,2319695,C,A&fts=all		Superfamily_domains:0038399,Gene3D:1h3iA01,Pfam_domain:PF02493,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF123,SMART_domains:SM00698		R/L		A	neutral	404/1798		getma.org/?cm=msa&ty=f&p=MORN1_HUMAN&rb=42&re=103&var=R77L	deleterious(0)				YES	MORN1,missense_variant,p.Arg77Leu,ENST00000378531,NM_024848.1;MORN1,missense_variant,p.Arg77Leu,ENST00000378529,;MORN1,missense_variant,p.Gly28Cys,ENST00000449373,;MORN1,missense_variant,p.Arg52Leu,ENST00000494279,;RER1,upstream_gene_variant,,ENST00000605895,NM_007033.4;RER1,upstream_gene_variant,,ENST00000378512,;RER1,upstream_gene_variant,,ENST00000378513,;RER1,upstream_gene_variant,,ENST00000306256,;RER1,upstream_gene_variant,,ENST00000443438,;RER1,upstream_gene_variant,,ENST00000378518,;MORN1,non_coding_transcript_exon_variant,,ENST00000606372,;MORN1,missense_variant,p.Arg53Leu,ENST00000378525,;MORN1,non_coding_transcript_exon_variant,,ENST00000607031,;MORN1,non_coding_transcript_exon_variant,,ENST00000475812,;MORN1,upstream_gene_variant,,ENST00000469374,;RER1,upstream_gene_variant,,ENST00000493207,;MORN1,upstream_gene_variant,,ENST00000419785,;AL513477.1,non_coding_transcript_exon_variant,,ENST00000317490,;							MODERATE	230/1494	R77L	MORN1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000367792		CCDS40.1			1	
FNDC1	0	LGGM	GRCh37	6	159654110	159654110	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000297267.9:c.2566C>A	p.Arg856=	p.R856=	ENST00000297267	NM_032532.2	856	Cga/Aga	0	1	1	UPI0000579B80	0		ENST00000297267		ENSG00000164694	21184		10			HGNC	p.R856R		FNDC1		SNV							ENST00000297267	protein_coding			hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197		R		A		2766/6552							YES	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000340366,;FNDC1,synonymous_variant,p.=,ENST00000329629,;							LOW	2566/5685		FNDC1_HUMAN			Transcript			.	ENSP00000297267		CCDS47512.1			1	
ANKS6	0	LGGM	GRCh37	9	101546413	101546413	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	3	.	.	ENST00000353234.4:c.934G>T	p.Ala312Ser	p.A312S	ENST00000353234		312	Gcc/Tcc	0	1	1	UPI0000530317	0	getma.org/pdb.php?prot=ANKS6_HUMAN&from=296&to=390&var=A312S	ENST00000353234		ENSG00000165138	26724		14	1.15		HGNC	p.A117S		ANKS6		SNV			1				ENST00000540940	protein_coding	getma.org/?cm=var&var=hg19,9,101546413,C,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF2,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		A/S		A	low	982/7164		getma.org/?cm=msa&ty=f&p=ANKS6_HUMAN&rb=296&re=390&var=A312S	deleterious(0.01)	F5H7X9_HUMAN			YES	ANKS6,missense_variant,p.Ala312Ser,ENST00000353234,;ANKS6,missense_variant,p.Ala312Ser,ENST00000375018,NM_173551.3;ANKS6,missense_variant,p.Ala117Ser,ENST00000540940,;ANKS6,missense_variant,p.Ala11Ser,ENST00000375019,;ANKS6,non_coding_transcript_exon_variant,,ENST00000486778,;ANKS6,non_coding_transcript_exon_variant,,ENST00000466120,;							MODERATE	934/2616	A312S	ANKS6_HUMAN			Transcript		benign(0.232)	.	ENSP00000297837		CCDS43856.1			1	
LRBA	0	LGGM	GRCh37	4	151749500	151749500	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	3	.	.	ENST00000357115.3:c.5003C>T	p.Pro1668Leu	p.P1668L	ENST00000357115	NM_006726.4	1668	cCg/cTg	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		20	1.87		HGNC	p.P1668L	rs760323448,COSM3600862	LRBA		SNV			1			0,1	ENST00000507224	protein_coding	getma.org/?cm=var&var=hg19,4,151749500,G,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64		P/L		A	low	5247/9899	4.50E-05	getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=1533&re=1732&var=P1668L	deleterious_low_confidence(0.04)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Pro1668Leu,ENST00000535741,;LRBA,missense_variant,p.Pro1668Leu,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Pro1668Leu,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Pro1668Leu,ENST00000507224,;LRBA,missense_variant,p.Pro321Leu,ENST00000509835,;					0,1		MODERATE	5003/8592	P1668L	LRBA_HUMAN			Transcript		benign(0.073)	.	ENSP00000349629	2.47E-05	CCDS3773.1			1	
TGM5	0	LGGM	GRCh37	15	43559041	43559041	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000220420.5:c.7C>T	p.Gln3Ter	p.Q3*	ENST00000220420	NM_201631.3	3	Caa/Taa	0	1	1	UPI0000136CCF	0	NA	ENST00000220420		ENSG00000104055	11781		15	0		HGNC	p.Q3X		TGM5		SNV			1				ENST00000220420	protein_coding	getma.org/?cm=var&var=hg19,15,43559041,G,A&fts=all		Superfamily_domains:SSF81296,PIRSF_domain:PIRSF000459,Gene3D:2.60.40.10,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590		Q/*		A	NA	15/2767		NA					YES	TGM5,stop_gained,p.Gln3Ter,ENST00000220420,NM_201631.3;TGM5,stop_gained,p.Gln3Ter,ENST00000349114,NM_004245.3;ATP5HP1,downstream_gene_variant,,ENST00000567898,;							HIGH	Jul-63	Q3*	TGM5_HUMAN			Transcript			.	ENSP00000220420		CCDS32212.1			1	
KIAA1468	0	LGGM	GRCh37	18	59931267	59931267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	3	.	.	ENST00000398130.2:c.2396C>A	p.Thr799Asn	p.T799N	ENST00000398130	NM_020854.3	799	aCt/aAt	0	1	1	UPI0000DA5AF7	0	NA	ENST00000398130		ENSG00000134444	29289		42	1.43		HGNC	p.T799N		KIAA1468		SNV							ENST00000398130	protein_coding	getma.org/?cm=var&var=hg19,18,59931267,C,A&fts=all		hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0		T/N		A	low	2628/5471		getma.org/?cm=msa&ty=f&p=K1468_HUMAN&rb=511&re=1214&var=T799N	deleterious(0.01)	Q96ES0_HUMAN			YES	KIAA1468,missense_variant,p.Thr799Asn,ENST00000256858,;KIAA1468,missense_variant,p.Thr799Asn,ENST00000398130,NM_020854.3;KIAA1468,missense_variant,p.Thr799Asn,ENST00000587725,;KIAA1468,missense_variant,p.Thr32Asn,ENST00000588446,;KIAA1468,upstream_gene_variant,,ENST00000586920,;							MODERATE	2396/3651	T799N	K1468_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000381198		CCDS11979.2			1	
FAM179B	0	LGGM	GRCh37	14	45431992	45431992	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000361577.3:c.368G>T	p.Arg123Leu	p.R123L	ENST00000361577	NM_015091.2	123	cGg/cTg	0	1	1	UPI00001C1F79	0	NA	ENST00000361577		ENSG00000198718	19959		33	0.695		HGNC	p.R123L		FAM179B		SNV							ENST00000361577	protein_coding	getma.org/?cm=var&var=hg19,14,45431992,G,T&fts=all		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		R/L		T	neutral	582/6247		getma.org/?cm=msa&ty=f&p=F179B_HUMAN&rb=1&re=200&var=R123L	deleterious_low_confidence(0)				YES	FAM179B,missense_variant,p.Arg123Leu,ENST00000361462,;FAM179B,missense_variant,p.Arg123Leu,ENST00000361577,NM_015091.2;FAM179B,missense_variant,p.Arg123Leu,ENST00000382233,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000396128,NM_017658.3;KLHL28,upstream_gene_variant,,ENST00000355081,;KLHL28,upstream_gene_variant,,ENST00000556500,;KLHL28,upstream_gene_variant,,ENST00000579157,;KLHL28,upstream_gene_variant,,ENST00000557468,;KLHL28,downstream_gene_variant,,ENST00000553817,;FAM179B,missense_variant,p.Arg123Leu,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;							MODERATE	368/5163	R123L	F179B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000355045		CCDS9681.1			1	
PAQR4	0	LGGM	GRCh37	16	3021234	3021234	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	3	.	.	ENST00000318782.8:c.243G>T	p.Leu81=	p.L81=	ENST00000318782	NM_152341.3	81	ctG/ctT	0	1	1	UPI0000072F38	0		ENST00000318782		ENSG00000162073	26386		8			HGNC	p.L14L		PAQR4		SNV							ENST00000574988	protein_coding			Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF30,Transmembrane_helices:TMhelix		L		T		673/2793				I3L1A2_HUMAN			YES	PAQR4,synonymous_variant,p.=,ENST00000318782,NM_152341.3,NM_001284513.1;PAQR4,synonymous_variant,p.=,ENST00000574988,;PAQR4,synonymous_variant,p.=,ENST00000576565,;PAQR4,intron_variant,,ENST00000293978,NM_001284511.1;PKMYT1,intron_variant,,ENST00000431515,;PAQR4,intron_variant,,ENST00000572687,NM_001284512.1;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,;							LOW	243/822		PAQR4_HUMAN			Transcript			.	ENSP00000321804		CCDS10485.1			1	
LIPG	0	LGGM	GRCh37	18	47101827	47101827	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000261292.4:c.660C>A	p.His220Gln	p.H220Q	ENST00000261292	NM_006033.2	220	caC/caA	0	1	1	UPI000012E706	0	getma.org/pdb.php?prot=LIPE_HUMAN&from=20&to=344&var=H220Q	ENST00000261292		ENSG00000101670	6623		33	2.74		HGNC	p.H256Q		LIPG		SNV							ENST00000577628	protein_coding	getma.org/?cm=var&var=hg19,18,47101827,C,A&fts=all		Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610:SF13,hmmpanther:PTHR11610		H/Q		A	medium	938/4161		getma.org/?cm=msa&ty=f&p=LIPE_HUMAN&rb=20&re=344&var=H220Q	deleterious(0)	J3KTN7_HUMAN			YES	LIPG,missense_variant,p.His220Gln,ENST00000261292,NM_006033.2;LIPG,missense_variant,p.His256Gln,ENST00000577628,;LIPG,missense_variant,p.His220Gln,ENST00000580036,;LIPG,intron_variant,,ENST00000427224,;							MODERATE	660/1503	H220Q	LIPE_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261292		CCDS11938.1			1	
MTHFD2	0	LGGM	GRCh37	2	74437075	74437075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	3	.	.	ENST00000394053.2:c.569C>A	p.Pro190Gln	p.P190Q	ENST00000394053	NM_006636.3	190	cCa/cAa	0	1	1	UPI0000208708	0	getma.org/pdb.php?prot=MTDC_HUMAN&from=158&to=332&var=P190Q	ENST00000394053		ENSG00000065911	7434		13	1.27		HGNC	p.P190Q		MTHFD2		SNV							ENST00000394053	protein_coding	getma.org/?cm=var&var=hg19,2,74437075,C,A&fts=all		HAMAP:MF_01576,hmmpanther:PTHR10025:SF29,hmmpanther:PTHR10025,Gene3D:3.40.50.720,Pfam_domain:PF02882,Superfamily_domains:SSF51735,Prints_domain:PR00085		P/Q		A	low	649/4456		getma.org/?cm=msa&ty=f&p=MTDC_HUMAN&rb=158&re=332&var=P190Q	tolerated(0.24)	Q7Z650_HUMAN,B4DY35_HUMAN,B2R7W0_HUMAN			YES	MTHFD2,missense_variant,p.Pro190Gln,ENST00000394053,NM_006636.3;MTHFD2,missense_variant,p.Pro149Gln,ENST00000409601,;MTHFD2,missense_variant,p.Pro88Gln,ENST00000264090,;MTHFD2,missense_variant,p.Pro26Gln,ENST00000394050,;MTHFD2,intron_variant,,ENST00000409804,;MTHFD2,non_coding_transcript_exon_variant,,ENST00000462026,;MTHFD2,downstream_gene_variant,,ENST00000477455,;MTHFD2,downstream_gene_variant,,ENST00000488086,;MTHFD2,3_prime_UTR_variant,,ENST00000470592,;MTHFD2,3_prime_UTR_variant,,ENST00000489041,;RP11-287D1.3,downstream_gene_variant,,ENST00000451608,;							MODERATE	569/1053	P190Q	MTDC_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000377617		CCDS1935.2			1	
PALMD	0	LGGM	GRCh37	1	100154844	100154844	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	3	.	.	ENST00000263174.4:c.1028C>G	p.Pro343Arg	p.P343R	ENST00000263174	NM_017734.4	343	cCg/cGg	0	1	1	UPI000006DDD8	0	NA	ENST00000263174		ENSG00000099260	15846		37	0.345		HGNC	p.P343R		PALMD		SNV							ENST00000263174	protein_coding	getma.org/?cm=var&var=hg19,1,100154844,C,G&fts=all		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5		P/R		G	neutral	1403/2510		getma.org/?cm=msa&ty=f&p=PALMD_HUMAN&rb=287&re=347&var=P343R	tolerated(0.34)				YES	PALMD,missense_variant,p.Pro343Arg,ENST00000263174,NM_017734.4;PALMD,missense_variant,p.Pro343Arg,ENST00000605497,;PALMD,non_coding_transcript_exon_variant,,ENST00000496843,;							MODERATE	1028/1656	P343R	PALMD_HUMAN			Transcript		benign(0.003)	.	ENSP00000263174		CCDS758.1			1	
NHSL2	0	LGGM	GRCh37	X	71360137	71360137	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	3	.	.	ENST00000540800.1:c.2739G>T	p.Ala913=	p.A913=	ENST00000540800	NM_001013627.2	913	gcG/gcT	0	1		UPI0001D3B33F	0		ENST00000510661		ENSG00000204131	33737		16			HGNC	p.A547A		NHSL2		SNV							ENST00000373677	protein_coding			hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2		A		T		2112/3082				D6RBM4_HUMAN				NHSL2,synonymous_variant,p.=,ENST00000373677,;NHSL2,synonymous_variant,p.=,ENST00000540800,NM_001013627.2;NHSL2,synonymous_variant,p.=,ENST00000510661,;NHSL2,synonymous_variant,p.=,ENST00000535692,;RP11-262D11.2,upstream_gene_variant,,ENST00000456343,;							LOW	2046/2535					Transcript			.	ENSP00000424079					1	
EIF5B	0	LGGM	GRCh37	2	100015223	100015223	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	3	.	.	ENST00000289371.6:c.3406G>T	p.Gly1136Ter	p.G1136*	ENST00000289371	NM_015904.3	1136	Gga/Tga	0	1	1	UPI0000207EC7	0	NA	ENST00000289371		ENSG00000158417	30793		26	0		HGNC	p.G1136X		EIF5B		SNV							ENST00000289371	protein_coding	getma.org/?cm=var&var=hg19,2,100015223,G,T&fts=all		Superfamily_domains:SSF50447,Gene3D:2.40.30.10,Pfam_domain:PF14578,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF99		G/*		T	NA	3608/5777		NA		D3DVI5_HUMAN			YES	EIF5B,stop_gained,p.Gly1136Ter,ENST00000289371,NM_015904.3;REV1,downstream_gene_variant,,ENST00000258428,NM_001037872.1,NM_016316.2;REV1,downstream_gene_variant,,ENST00000393445,;REV1,downstream_gene_variant,,ENST00000465835,;REV1,downstream_gene_variant,,ENST00000482595,;EIF5B,non_coding_transcript_exon_variant,,ENST00000470023,;EIF5B,non_coding_transcript_exon_variant,,ENST00000494190,;REV1,downstream_gene_variant,,ENST00000413697,;REV1,downstream_gene_variant,,ENST00000485487,;REV1,downstream_gene_variant,,ENST00000465086,;							HIGH	3406/3663	G1136*	IF2P_HUMAN			Transcript			.	ENSP00000289371		CCDS42721.1			1	
YIPF2	0	LGGM	GRCh37	19	11034800	11034800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	4	3	.	.	ENST00000586748.1:c.436G>T	p.Ala146Ser	p.A146S	ENST00000586748		146	Gcc/Tcc	0	1		UPI00000729B3	0	NA	ENST00000253031		ENSG00000130733	28476		7	0.815		HGNC	p.A146S		YIPF2		SNV							ENST00000586748	protein_coding	getma.org/?cm=var&var=hg19,19,11034800,C,A&fts=all		Pfam_domain:PF04893,hmmpanther:PTHR12822,hmmpanther:PTHR12822:SF3,Transmembrane_helices:TMhelix		A/S		A	low	563/1504		getma.org/?cm=msa&ty=f&p=YIPF2_HUMAN&rb=87&re=267&var=A146S	tolerated(0.58)	K7ERW0_HUMAN,K7EM92_HUMAN,K7EL70_HUMAN,K7EJN9_HUMAN				YIPF2,missense_variant,p.Ala146Ser,ENST00000586748,;YIPF2,missense_variant,p.Ala146Ser,ENST00000253031,NM_024029.3;YIPF2,missense_variant,p.Ala9Ser,ENST00000589971,;YIPF2,missense_variant,p.Ala146Ser,ENST00000588347,;YIPF2,missense_variant,p.Ala117Ser,ENST00000585858,;YIPF2,5_prime_UTR_variant,,ENST00000586575,;YIPF2,5_prime_UTR_variant,,ENST00000587943,;YIPF2,intron_variant,,ENST00000590329,;CARM1,downstream_gene_variant,,ENST00000327064,NM_199141.1;CARM1,downstream_gene_variant,,ENST00000344150,;C19orf52,upstream_gene_variant,,ENST00000270502,NM_138358.2;YIPF2,upstream_gene_variant,,ENST00000592646,;CARM1,downstream_gene_variant,,ENST00000586298,;YIPF2,upstream_gene_variant,,ENST00000591872,;YIPF2,non_coding_transcript_exon_variant,,ENST00000588962,;CARM1,downstream_gene_variant,,ENST00000586221,;CARM1,downstream_gene_variant,,ENST00000590699,;CARM1,downstream_gene_variant,,ENST00000586508,;CARM1,downstream_gene_variant,,ENST00000592516,;YIPF2,downstream_gene_variant,,ENST00000592505,;							MODERATE	436/951	A146S	YIPF2_HUMAN			Transcript		benign(0.145)	.	ENSP00000253031		CCDS12251.1			1	
MXRA5	0	LGGM	GRCh37	X	3229253	3229253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	3	.	.	ENST00000217939.6:c.6991G>T	p.Gly2331Trp	p.G2331W	ENST00000217939	NM_015419.3	2331	Ggg/Tgg	0	1	1	UPI000013C73B	0	getma.org/pdb.php?prot=MXRA5_HUMAN&from=2244&to=2341&var=G2331W	ENST00000217939		ENSG00000101825	7539		41	4.44		HGNC	p.G2331W		MXRA5		SNV							ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3229253,C,A&fts=all		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		G/W		A	high	7146/9793		getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=2244&re=2341&var=G2331W	deleterious(0)				YES	MXRA5,missense_variant,p.Gly2331Trp,ENST00000217939,NM_015419.3;							MODERATE	6991/8487	G2331W	MXRA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000217939		CCDS14124.1			1	
RALGAPA2	0	LGGM	GRCh37	20	20552256	20552256	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	3	.	.	ENST00000202677.7:c.3002C>A	p.Ala1001Glu	p.A1001E	ENST00000202677	NM_020343.3	1001	gCg/gAg	0	1	1	UPI000040F987	0	NA	ENST00000202677		ENSG00000188559	16207		37	2.61		HGNC	p.A1001E		RALGAPA2		SNV							ENST00000202677	protein_coding	getma.org/?cm=var&var=hg19,20,20552256,G,T&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Superfamily_domains:SSF48371		A/E		T	medium	3010/6152		getma.org/?cm=msa&ty=f&p=RGPA2_HUMAN&rb=1001&re=1200&var=A1001E	deleterious(0)				YES	RALGAPA2,missense_variant,p.Ala818Glu,ENST00000430436,;RALGAPA2,missense_variant,p.Ala1001Glu,ENST00000202677,NM_020343.3;							MODERATE	3002/5622	A1001E	RGPA2_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000202677		CCDS46584.1			1	
RBM42	0	LGGM	GRCh37	19	36125221	36125221	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	3	.	.	ENST00000262633.4:c.1081C>A	p.Arg361Ser	p.R361S	ENST00000262633	NM_024321.3	361	Cgc/Agc	0	1	1	UPI000006D046	0	NA	ENST00000262633		ENSG00000126254	28117		8	2.015		HGNC	p.R307S		RBM42		SNV							ENST00000592202	protein_coding	getma.org/?cm=var&var=hg19,19,36125221,C,A&fts=all		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF41		R/S		A	medium	1186/1680		getma.org/?cm=msa&ty=f&p=RBM42_HUMAN&rb=327&re=382&var=R361S	deleterious(0)				YES	RBM42,missense_variant,p.Arg361Ser,ENST00000262633,NM_024321.3;RBM42,missense_variant,p.Arg331Ser,ENST00000588161,;RBM42,missense_variant,p.Arg332Ser,ENST00000360475,;RBM42,missense_variant,p.Arg339Ser,ENST00000589871,;RBM42,missense_variant,p.Arg307Ser,ENST00000592202,;RBM42,missense_variant,p.Arg332Ser,ENST00000589559,;RBM42,intron_variant,,ENST00000586618,;RBM42,downstream_gene_variant,,ENST00000592526,;							MODERATE	1081/1443	R361S	RBM42_HUMAN			Transcript		unknown(0)	.	ENSP00000262633		CCDS12468.1			1	
SERPINH1	0	LGGM	GRCh37	11	75277844	75277844	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000524558.1:c.450C>A	p.Ser150Arg	p.S150R	ENST00000524558		150	agC/agA	0	1		UPI00001271B6	0	getma.org/pdb.php?prot=SERPH_HUMAN&from=45&to=409&var=S150R	ENST00000358171		ENSG00000149257	1546		24	2.075		HGNC	p.S103R		SERPINH1		SNV			1				ENST00000525492	protein_coding	getma.org/?cm=var&var=hg19,11,75277844,C,A&fts=all		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF27,SMART_domains:SM00093,Superfamily_domains:SSF56574		S/R		A	medium	718/2225		getma.org/?cm=msa&ty=f&p=SERPH_HUMAN&rb=45&re=409&var=S150R	deleterious(0)	Q9NPA9_HUMAN,E9PRS3_HUMAN,E9PR70_HUMAN,E9PNX1_HUMAN,E9PMI5_HUMAN,E9PKH2_HUMAN,E9PK86_HUMAN,E9PJH8_HUMAN,E9PIG2_HUMAN,B4DN87_HUMAN				SERPINH1,missense_variant,p.Ser150Arg,ENST00000524558,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000533603,NM_001207014.1;SERPINH1,missense_variant,p.Ser150Arg,ENST00000358171,NM_001235.3;SERPINH1,missense_variant,p.Ser150Arg,ENST00000530284,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000532356,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000525611,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000526397,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000528760,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000529643,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000528990,;SERPINH1,missense_variant,p.Ser150Arg,ENST00000533449,;SERPINH1,missense_variant,p.Ser103Arg,ENST00000525492,;SERPINH1,upstream_gene_variant,,ENST00000525876,;SERPINH1,downstream_gene_variant,,ENST00000526242,;							MODERATE	450/1257	S150R	SERPH_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000350894		CCDS8239.1			1	
ESPL1	0	LGGM	GRCh37	12	53670887	53670887	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	3	.	.	ENST00000257934.4:c.1961G>T	p.Arg654Leu	p.R654L	ENST00000257934	NM_012291.4	654	cGg/cTg	0	1	1	UPI00003668C3	0	NA	ENST00000257934		ENSG00000135476	16856		42	1.04		HGNC	p.R654L		ESPL1		SNV							ENST00000257934	protein_coding	getma.org/?cm=var&var=hg19,12,53670887,G,T&fts=all		hmmpanther:PTHR12792		R/L		T	low	2052/6623		getma.org/?cm=msa&ty=f&p=ESPL1_HUMAN&rb=1&re=1299&var=R654L	deleterious(0.03)	H3BRX7_HUMAN			YES	ESPL1,missense_variant,p.Arg654Leu,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Arg654Leu,ENST00000552462,;ESPL1,downstream_gene_variant,,ENST00000550026,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,upstream_gene_variant,,ENST00000535123,;							MODERATE	1961/6363	R654L	ESPL1_HUMAN			Transcript		benign(0.02)	.	ENSP00000257934		CCDS8852.1			1	
KCTD10	0	LGGM	GRCh37	12	109889419	109889419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	3	3	.	.	ENST00000228495.6:c.923G>T	p.Arg308Leu	p.R308L	ENST00000228495	NM_031954.3	308	cGg/cTg	0	1	1	UPI000004DAE1	0	NA	ENST00000228495		ENSG00000110906	23236		6	2.19		HGNC	p.R308L		KCTD10		SNV							ENST00000228495	protein_coding	getma.org/?cm=var&var=hg19,12,109889419,C,A&fts=all		hmmpanther:PTHR11145,hmmpanther:PTHR11145:SF14		R/L		A	medium	1205/4163		getma.org/?cm=msa&ty=f&p=BACD3_HUMAN&rb=125&re=313&var=R308L	deleterious_low_confidence(0)	F5H268_HUMAN,F5GY15_HUMAN,F5GWK6_HUMAN,B3KVY5_HUMAN			YES	KCTD10,missense_variant,p.Arg308Leu,ENST00000228495,NM_031954.3;KCTD10,missense_variant,p.Arg127Leu,ENST00000540089,;KCTD10,missense_variant,p.Arg127Leu,ENST00000424763,;KCTD10,missense_variant,p.Arg282Leu,ENST00000540411,;MYO1H,downstream_gene_variant,,ENST00000310903,;MYO1H,downstream_gene_variant,,ENST00000431443,NM_001101421.3;KCTD10,downstream_gene_variant,,ENST00000535546,;KCTD10,downstream_gene_variant,,ENST00000542954,;KCTD10,downstream_gene_variant,,ENST00000542858,;KCTD10,downstream_gene_variant,,ENST00000542262,;KCTD10,downstream_gene_variant,,ENST00000540355,;RP11-256L11.3,upstream_gene_variant,,ENST00000539987,;KCTD10,non_coding_transcript_exon_variant,,ENST00000538161,;KCTD10,3_prime_UTR_variant,,ENST00000537165,;KCTD10,3_prime_UTR_variant,,ENST00000440541,;KCTD10,non_coding_transcript_exon_variant,,ENST00000545759,;MYO1H,intron_variant,,ENST00000543960,;MYO1H,downstream_gene_variant,,ENST00000542268,;KCTD10,downstream_gene_variant,,ENST00000540402,;KCTD10,downstream_gene_variant,,ENST00000541077,;							MODERATE	923/942	R308L	BACD3_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000228495		CCDS9128.1			1	
MKL1	0	LGGM	GRCh37	22	40816904	40816904	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000355630.3:c.828C>A	p.Asn276Lys	p.N276K	ENST00000355630	NM_020831.3	276	aaC/aaA	0	1	1	UPI000007311D	0	NA	ENST00000355630		ENSG00000196588	14334		18	1.795		HGNC	p.N276K		MKL1		SNV			1				ENST00000407029	protein_coding	getma.org/?cm=var&var=hg19,22,40816904,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22793:SF6,hmmpanther:PTHR22793		N/K		T	low	1419/4496		getma.org/?cm=msa&ty=f&p=MKL1_HUMAN&rb=94&re=293&var=N276K	tolerated(0.75)	Q29R68_HUMAN			YES	MKL1,missense_variant,p.Asn276Lys,ENST00000396617,NM_001282662.1;MKL1,missense_variant,p.Asn276Lys,ENST00000355630,NM_020831.3;MKL1,missense_variant,p.Asn226Lys,ENST00000402042,NM_001282661.1;MKL1,missense_variant,p.Asn276Lys,ENST00000407029,NM_001282660.1;MKL1,upstream_gene_variant,,ENST00000477468,;							MODERATE	828/2796	N276K	MKL1_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000347847		CCDS14003.1			1	
MYH15	0	LGGM	GRCh37	3	108117975	108117975	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	3	.	.	ENST00000273353.3:c.4936C>A	p.Arg1646=	p.R1646=	ENST00000273353	NM_014981.1	1646	Cgg/Agg	0	1	1	UPI0000253B6F	0		ENST00000273353		ENSG00000144821	31073		42			HGNC	p.R1646R		MYH15		SNV							ENST00000273353	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263		R		T		4993/7074				H9XFA0_HUMAN			YES	MYH15,synonymous_variant,p.=,ENST00000273353,NM_014981.1;							LOW	4936/5841		MYH15_HUMAN			Transcript			.	ENSP00000273353		CCDS43127.1			1	
PLA2G4B	0	LGGM	GRCh37	15	42133034	42133034	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	3	.	.	ENST00000382448.4:c.975A>G	p.Ser325=	p.S325=	ENST00000382448		325	tcA/tcG	0	1		UPI00001FE2E6	0		ENST00000452633		ENSG00000243708	9036		17			HGNC	p.S325S		PLA2G4B		SNV							ENST00000382448	protein_coding			PROSITE_profiles:PS50004,hmmpanther:PTHR10728:SF31,hmmpanther:PTHR10728,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		S		G		634/2985								PLA2G4B,synonymous_variant,p.=,ENST00000542534,NM_005090.3;JMJD7-PLA2G4B,synonymous_variant,p.=,ENST00000382448,;PLA2G4B,synonymous_variant,p.=,ENST00000452633,;JMJD7-PLA2G4B,synonymous_variant,p.=,ENST00000342159,NM_001198588.1;PLA2G4B,synonymous_variant,p.=,ENST00000458483,NM_001114633.1;JMJD7,downstream_gene_variant,,ENST00000397299,NM_001114632.1;JMJD7,downstream_gene_variant,,ENST00000408047,;JMJD7,downstream_gene_variant,,ENST00000431823,;JMJD7-PLA2G4B,downstream_gene_variant,,ENST00000476036,;JMJD7-PLA2G4B,3_prime_UTR_variant,,ENST00000487292,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000491746,;JMJD7-PLA2G4B,non_coding_transcript_exon_variant,,ENST00000490848,;PLA2G4B,non_coding_transcript_exon_variant,,ENST00000461382,;PLA2G4B,upstream_gene_variant,,ENST00000483748,;JMJD7,downstream_gene_variant,,ENST00000478178,;							LOW	282/2346		PA24B_HUMAN			Transcript			.	ENSP00000396045		CCDS45241.1			1	
EPS15	0	LGGM	GRCh37	1	51869125	51869125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	3	.	.	ENST00000371733.3:c.1757G>T	p.Cys586Phe	p.C586F	ENST00000371733	NM_001981.2	586	tGt/tTt	0	1	1	UPI0000161B29	0	NA	ENST00000371733		ENSG00000085832	3419		49	0		HGNC	p.C452F		EPS15		SNV							ENST00000371730	protein_coding	getma.org/?cm=var&var=hg19,1,51869125,C,A&fts=all		hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF54		C/F		A	neutral	1854/5225		getma.org/?cm=msa&ty=f&p=EPS15_HUMAN&rb=421&re=602&var=C586F	tolerated(0.74)				YES	EPS15,missense_variant,p.Cys586Phe,ENST00000371733,NM_001981.2;EPS15,missense_variant,p.Cys452Phe,ENST00000371730,;EPS15,missense_variant,p.Cys263Phe,ENST00000396122,NM_001159969.1;EPS15,non_coding_transcript_exon_variant,,ENST00000493793,;EPS15,upstream_gene_variant,,ENST00000486505,;EPS15,upstream_gene_variant,,ENST00000478657,;							MODERATE	1757/2691	C586F	EPS15_HUMAN			Transcript		benign(0.273)	.	ENSP00000360798		CCDS557.1			1	
TSSK6	0	LGGM	GRCh37	19	19625920	19625920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000360913.3:c.317G>T	p.Arg106Leu	p.R106L	ENST00000360913		106	cGc/cTc	0	1		UPI0000035B9A	0	getma.org/pdb.php?prot=TSSK6_HUMAN&from=12&to=267&var=R106L	ENST00000585580		ENSG00000178093	30410		15	1.425		HGNC	p.R106L		TSSK6		SNV							ENST00000587522	protein_coding	getma.org/?cm=var&var=hg19,19,19625920,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF112,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		A	low	575/1467		getma.org/?cm=msa&ty=f&p=TSSK6_HUMAN&rb=12&re=267&var=R106L	tolerated(0.23)	R4GMZ2_HUMAN				TSSK6,missense_variant,p.Arg106Leu,ENST00000360913,;TSSK6,missense_variant,p.Arg106Leu,ENST00000585580,NM_032037.3;YJEFN3,upstream_gene_variant,,ENST00000608404,;CTC-260F20.3,upstream_gene_variant,,ENST00000555938,;NDUFA13,upstream_gene_variant,,ENST00000512771,;NDUFA13,upstream_gene_variant,,ENST00000507754,;NDUFA13,upstream_gene_variant,,ENST00000503283,;NDUFA13,upstream_gene_variant,,ENST00000252576,NM_015965.6;NDUFA13,upstream_gene_variant,,ENST00000428459,;CTC-260F20.3,upstream_gene_variant,,ENST00000586674,;TSSK6,missense_variant,p.Arg106Leu,ENST00000587522,;NDUFA13,upstream_gene_variant,,ENST00000502506,;TSSK6,upstream_gene_variant,,ENST00000602623,;NDUFA13,upstream_gene_variant,,ENST00000511584,;NDUFA13,upstream_gene_variant,,ENST00000511180,;NDUFA13,upstream_gene_variant,,ENST00000606722,;							MODERATE	317/822	R106L	TSSK6_HUMAN			Transcript		benign(0.029)	.	ENSP00000466477		CCDS12403.1			1	
TGM2	0	LGGM	GRCh37	20	36775212	36775212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	3	.	.	ENST00000361475.2:c.766G>T	p.Gly256Cys	p.G256C	ENST00000361475	NM_004613.2	256	Ggc/Tgc	0	1	1	UPI0000136CCB	0	getma.org/pdb.php?prot=TGM2_HUMAN&from=256&to=359&var=G256C	ENST00000361475		ENSG00000198959	11778		17	3.28		HGNC	p.G175C	COSM251162	TGM2		SNV						1	ENST00000536701	protein_coding	getma.org/?cm=var&var=hg19,20,36775212,C,A&fts=all		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF6,Superfamily_domains:SSF54001		G/C		A	medium	940/3996		getma.org/?cm=msa&ty=f&p=TGM2_HUMAN&rb=256&re=359&var=G256C	deleterious(0)	Q6DKH2_HUMAN,A2A2A0_HUMAN,A2A299_HUMAN			YES	TGM2,missense_variant,p.Gly256Cys,ENST00000361475,NM_004613.2,NM_198951.1;TGM2,missense_variant,p.Gly175Cys,ENST00000536701,;TGM2,missense_variant,p.Gly196Cys,ENST00000536724,;TGM2,missense_variant,p.Gly256Cys,ENST00000373403,;TGM2,downstream_gene_variant,,ENST00000453095,;TGM2,non_coding_transcript_exon_variant,,ENST00000474777,;TGM2,non_coding_transcript_exon_variant,,ENST00000468262,;					1		MODERATE	766/2064	G256C	TGM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355330		CCDS13302.1			1	
PTPRN2	0	LGGM	GRCh37	7	157475537	157475537	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	3	.	.	ENST00000389418.4:c.1881G>C	p.Leu627=	p.L627=	ENST00000389418	NM_002847.3	627	ctG/ctC	0	1	1	UPI000002E7C7	0		ENST00000389418		ENSG00000155093	9677		22			HGNC	p.L650L		PTPRN2		SNV							ENST00000404321	protein_coding			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2		L		G		1891/4706				Q9NSR5_HUMAN			YES	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,;							LOW	1881/3048		PTPR2_HUMAN			Transcript			.	ENSP00000374069		CCDS5947.1			1	
KLHL10	0	LGGM	GRCh37	17	40001633	40001633	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	3	.	.	ENST00000293303.4:c.940C>A	p.Arg314=	p.R314=	ENST00000293303	NM_152467.3	314	Cgg/Agg	0	1	1	UPI000013E0FA	0		ENST00000293303		ENSG00000161594	18829		20			HGNC	p.R314R		KLHL10		SNV			1				ENST00000293303	protein_coding			hmmpanther:PTHR24412:SF165,hmmpanther:PTHR24412,Gene3D:1k3iA02,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		R		A		1093/2057				C9J999_HUMAN,B4DX37_HUMAN			YES	KLHL10,synonymous_variant,p.=,ENST00000293303,NM_152467.3;KLHL10,downstream_gene_variant,,ENST00000448203,;KLHL10,downstream_gene_variant,,ENST00000438813,;RP11-156E6.1,downstream_gene_variant,,ENST00000560400,;KLHL10,downstream_gene_variant,,ENST00000485613,;							LOW	940/1827		KLH10_HUMAN			Transcript			.	ENSP00000293303		CCDS42340.1			1	
ZNF517	0	LGGM	GRCh37	8	146032628	146032628	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	3	3	.	.	ENST00000359971.3:c.327C>A	p.Ser109=	p.S109=	ENST00000359971	NM_213605.2	109	tcC/tcA	0	1	1	UPI000045770F	0		ENST00000359971		ENSG00000197363	27984		6			HGNC	p.S102S		ZNF517		SNV							ENST00000528012	protein_coding			hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF20		S		A		434/2335							YES	ZNF517,synonymous_variant,p.=,ENST00000359971,NM_213605.2;ZNF517,synonymous_variant,p.=,ENST00000531720,;ZNF517,synonymous_variant,p.=,ENST00000529429,;ZNF517,synonymous_variant,p.=,ENST00000528012,;ZNF517,intron_variant,,ENST00000525105,;ZNF517,intron_variant,,ENST00000526178,;ZNF517,synonymous_variant,p.=,ENST00000533965,;ZNF517,non_coding_transcript_exon_variant,,ENST00000530879,;							LOW	327/1479		ZN517_HUMAN			Transcript			.	ENSP00000353058		CCDS6434.1			1	
CABIN1	0	LGGM	GRCh37	22	24487726	24487726	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	3	.	.	ENST00000398319.2:c.3715G>T	p.Glu1239Ter	p.E1239*	ENST00000398319	NM_001199281.1	1239	Gag/Tag	0	1		UPI0000126D6C	0	NA	ENST00000263119		ENSG00000099991	24187		17	0		HGNC	p.E1239X		CABIN1		SNV							ENST00000263119	protein_coding	getma.org/?cm=var&var=hg19,22,24487726,G,T&fts=all		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7		E/*		T	NA	3842/7222		NA						CABIN1,stop_gained,p.Glu1239Ter,ENST00000398319,NM_001199281.1;CABIN1,stop_gained,p.Glu1239Ter,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,stop_gained,p.Glu1189Ter,ENST00000405822,;CABIN1,non_coding_transcript_exon_variant,,ENST00000496016,;							HIGH	3715/6663	E1239*	CABIN_HUMAN			Transcript			.	ENSP00000263119		CCDS13823.1			1	
NOX3	0	LGGM	GRCh37	6	155743977	155743977	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	3	.	.	ENST00000159060.2:c.1159G>T	p.Gly387Trp	p.G387W	ENST00000159060	NM_015718.2	387	Ggg/Tgg	0	1	1	UPI000006EC80	0	NA	ENST00000159060		ENSG00000074771	7890		40	4.405		HGNC	p.G387W		NOX3		SNV							ENST00000159060	protein_coding	getma.org/?cm=var&var=hg19,6,155743977,C,A&fts=all		PROSITE_profiles:PS51384,hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972,Gene3D:2.40.30.10,Pfam_domain:PF08022,Superfamily_domains:SSF63380,Prints_domain:PR00466		G/W		A	high	1262/2042		getma.org/?cm=msa&ty=f&p=NOX3_HUMAN&rb=290&re=393&var=G387W	deleterious(0)				YES	NOX3,missense_variant,p.Gly387Trp,ENST00000159060,NM_015718.2;							MODERATE	1159/1707	G387W	NOX3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000159060		CCDS5250.1			1	
CFTR	0	LGGM	GRCh37	7	117232472	117232472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000003084.6:c.2251C>A	p.Arg751Ser	p.R751S	ENST00000003084	NM_000492.3	751	Cgc/Agc	0	1	1	UPI000013C4D4	0	NA	ENST00000003084		ENSG00000001626	1884		24	2.62		HGNC	p.R751S		CFTR		SNV			1				ENST00000003084	protein_coding	getma.org/?cm=var&var=hg19,7,117232472,C,A&fts=all		Pfam_domain:PF14396,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF19,TIGRFAM_domain:TIGR01271		R/S		A	medium	2383/6128		getma.org/?cm=msa&ty=f&p=CFTR_HUMAN&rb=639&re=850&var=R751S	tolerated(0.07)	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			YES	CFTR,missense_variant,p.Arg751Ser,ENST00000003084,NM_000492.3;CFTR,missense_variant,p.Arg690Ser,ENST00000454343,;CFTR,missense_variant,p.Arg721Ser,ENST00000426809,;CFTR,downstream_gene_variant,,ENST00000472848,;							MODERATE	2251/4443	R751S	CFTR_HUMAN			Transcript		benign(0.19)	.	ENSP00000003084		CCDS5773.1			1	
ATP5B	0	LGGM	GRCh37	12	57033835	57033835	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	3	.	.	ENST00000262030.3:c.1216C>A	p.Arg406Ser	p.R406S	ENST00000262030	NM_001686.3	406	Cgt/Agt	0	1	1	UPI000012644E	0	getma.org/pdb.php?prot=ATPB_HUMAN&from=406&to=417&var=R406S	ENST00000262030		ENSG00000110955	830		32	3.18		HGNC	p.R395S		ATP5B		SNV							ENST00000552919	protein_coding	getma.org/?cm=var&var=hg19,12,57033835,G,T&fts=all		Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01039,Gene3D:3.40.50.300,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347		R/S		T	medium	1267/1789		getma.org/?cm=msa&ty=f&p=ATPB_HUMAN&rb=376&re=447&var=R406S	deleterious_low_confidence(0)	Q0QEN7_HUMAN			YES	ATP5B,missense_variant,p.Arg406Ser,ENST00000262030,NM_001686.3;ATP5B,missense_variant,p.Arg395Ser,ENST00000552919,;ATP5B,missense_variant,p.Arg343Ser,ENST00000552959,;ATP5B,missense_variant,p.Arg109Ser,ENST00000552104,;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,;ATP5B,downstream_gene_variant,,ENST00000551570,;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,;							MODERATE	1216/1590	R406S	ATPB_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000262030		CCDS8924.1			1	
TANC1	0	LGGM	GRCh37	2	160086759	160086759	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	3	.	.	ENST00000263635.6:c.4822C>A	p.Arg1608Ser	p.R1608S	ENST00000263635	NM_033394.2	1608	Cgc/Agc	0	1	1	UPI0000421D80	0	NA	ENST00000263635		ENSG00000115183	29364		30	0		HGNC	p.R1608S		TANC1		SNV							ENST00000263635	protein_coding	getma.org/?cm=var&var=hg19,2,160086759,C,A&fts=all		hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23		R/S		A	neutral	5059/7470		getma.org/?cm=msa&ty=f&p=TANC1_HUMAN&rb=1408&re=1859&var=R1608S	tolerated_low_confidence(0.45)				YES	TANC1,missense_variant,p.Arg1608Ser,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,missense_variant,p.Arg1502Ser,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000496406,;TANC1,non_coding_transcript_exon_variant,,ENST00000470074,;							MODERATE	4822/5586	R1608S	TANC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000263635		CCDS42766.1			1	
WNT2B	0	LGGM	GRCh37	1	113059947	113059947	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	3	.	.	ENST00000369684.4:c.886C>A	p.Arg296=	p.R296=	ENST00000369684	NM_024494.2	296	Cgg/Agg	0	1	1	UPI0000138F23	0		ENST00000369684		ENSG00000134245	12781		17			HGNC	p.R277R		WNT2B		SNV							ENST00000369686	protein_coding			Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF93,SMART_domains:SM00097		R		A		1371/3818				Q5TEH9_HUMAN,Q5TEH8_HUMAN			YES	WNT2B,synonymous_variant,p.=,ENST00000369686,NM_004185.3;WNT2B,synonymous_variant,p.=,ENST00000369684,NM_024494.2;WNT2B,synonymous_variant,p.=,ENST00000256640,;RP4-671G15.2,downstream_gene_variant,,ENST00000608357,;WNT2B,downstream_gene_variant,,ENST00000478360,;							LOW	886/1176		WNT2B_HUMAN			Transcript			.	ENSP00000358698		CCDS847.1			1	
ATP10A	0	LGGM	GRCh37	15	25924728	25924728	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	3	.	.	ENST00000356865.6:c.4260C>A	p.Thr1420=	p.T1420=	ENST00000356865	NM_024490.3	1420	acC/acA	0	1	1	UPI0000124FAB	0		ENST00000356865		ENSG00000206190	13542		16			HGNC	p.T1420T		ATP10A		SNV			1				ENST00000356865	protein_coding			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43		T		T		4372/6680							YES	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;							LOW	4260/4500		AT10A_HUMAN			Transcript			.	ENSP00000349325		CCDS32178.1			1	
WDR6	0	LGGM	GRCh37	3	49050669	49050669	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000395474.3:c.1792G>T	p.Gly598Trp	p.G598W	ENST00000395474	NM_018031.3	598	Ggg/Tgg	0	1		UPI0000138EDD	0	NA	ENST00000608424		ENSG00000178252	12758		24	2.42		HGNC	p.G598W		WDR6		SNV							ENST00000395474	protein_coding	getma.org/?cm=var&var=hg19,3,49050669,G,T&fts=all		Superfamily_domains:0047741,Gene3D:2.130.10.10,hmmpanther:PTHR14344		G/W		T	medium	1741/4070		getma.org/?cm=msa&ty=f&p=WDR6_HUMAN&rb=527&re=726&var=G568W	deleterious(0)	Q8NDH0_HUMAN,Q6PKC6_HUMAN,Q6AZD6_HUMAN,E9PDU5_HUMAN				WDR6,missense_variant,p.Gly598Trp,ENST00000395474,NM_018031.3;WDR6,missense_variant,p.Gly568Trp,ENST00000608424,;WDR6,missense_variant,p.Gly517Trp,ENST00000448293,;WDR6,intron_variant,,ENST00000415265,;DALRD3,downstream_gene_variant,,ENST00000440857,;DALRD3,downstream_gene_variant,,ENST00000313778,NM_018114.5;DALRD3,downstream_gene_variant,,ENST00000341949,NM_001009996.2;DALRD3,downstream_gene_variant,,ENST00000441576,NM_001276405.1;DALRD3,downstream_gene_variant,,ENST00000395462,;DALRD3,downstream_gene_variant,,ENST00000420952,;WDR6,downstream_gene_variant,,ENST00000438660,;DALRD3,downstream_gene_variant,,ENST00000438585,;WDR6,downstream_gene_variant,,ENST00000489427,;WDR6,downstream_gene_variant,,ENST00000429900,;WDR6,downstream_gene_variant,,ENST00000419837,;WDR6,downstream_gene_variant,,ENST00000491365,;WDR6,intron_variant,,ENST00000489684,;DALRD3,downstream_gene_variant,,ENST00000496568,;DALRD3,downstream_gene_variant,,ENST00000492585,;WDR6,downstream_gene_variant,,ENST00000472878,;WDR6,downstream_gene_variant,,ENST00000461687,;WDR6,3_prime_UTR_variant,,ENST00000452875,;WDR6,3_prime_UTR_variant,,ENST00000420783,;WDR6,non_coding_transcript_exon_variant,,ENST00000471162,;DALRD3,downstream_gene_variant,,ENST00000498794,;DALRD3,downstream_gene_variant,,ENST00000460505,;DALRD3,downstream_gene_variant,,ENST00000484831,;DALRD3,downstream_gene_variant,,ENST00000467457,;DALRD3,downstream_gene_variant,,ENST00000498498,;DALRD3,downstream_gene_variant,,ENST00000472331,;DALRD3,downstream_gene_variant,,ENST00000481001,;WDR6,upstream_gene_variant,,ENST00000498023,;WDR6,downstream_gene_variant,,ENST00000488572,;WDR6,downstream_gene_variant,,ENST00000462064,;WDR6,downstream_gene_variant,,ENST00000473238,;WDR6,upstream_gene_variant,,ENST00000492780,;							MODERATE	1702/3366	G568W				Transcript		probably_damaging(0.998)	.	ENSP00000477389					1	
ADD2	0	LGGM	GRCh37	2	70933526	70933526	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000264436.4:c.15G>T	p.Thr5=	p.T5=	ENST00000264436	NM_001617.3	5	acG/acT	0	1	1	UPI0000125503	0		ENST00000264436		ENSG00000075340	244		24			HGNC	p.T5T		ADD2		SNV							ENST00000355733	protein_coding			hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672		T		A		460/9267				Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN			YES	ADD2,synonymous_variant,p.=,ENST00000264436,NM_001617.3;ADD2,synonymous_variant,p.=,ENST00000413157,NM_017482.3;ADD2,synonymous_variant,p.=,ENST00000407644,NM_001185054.1;ADD2,synonymous_variant,p.=,ENST00000355733,NM_017488.3;ADD2,synonymous_variant,p.=,ENST00000430656,NM_001185055.1;ADD2,synonymous_variant,p.=,ENST00000456320,;ADD2,synonymous_variant,p.=,ENST00000415348,;ADD2,synonymous_variant,p.=,ENST00000522886,;ADD2,synonymous_variant,p.=,ENST00000425976,;ADD2,synonymous_variant,p.=,ENST00000447731,;ADD2,downstream_gene_variant,,ENST00000473232,;ADD2,synonymous_variant,p.=,ENST00000403045,;							LOW	15/2181		ADDB_HUMAN			Transcript			.	ENSP00000264436		CCDS1906.1			1	
C11orf30	0	LGGM	GRCh37	11	76246971	76246971	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000529032.1:c.2227C>A	p.Arg743=	p.R743=	ENST00000529032		743	Cgg/Agg	0	1		UPI0000071307	0		ENST00000334736		ENSG00000158636	18071		33			HGNC	p.R758R		C11orf30		SNV							ENST00000524767	protein_coding			hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF2		R		A		2370/5508								C11orf30,synonymous_variant,p.=,ENST00000529032,;C11orf30,synonymous_variant,p.=,ENST00000334736,NM_020193.3;C11orf30,synonymous_variant,p.=,ENST00000343878,;C11orf30,synonymous_variant,p.=,ENST00000525038,;C11orf30,synonymous_variant,p.=,ENST00000524767,;C11orf30,synonymous_variant,p.=,ENST00000525919,;C11orf30,synonymous_variant,p.=,ENST00000524490,;C11orf30,intron_variant,,ENST00000533248,;C11orf30,intron_variant,,ENST00000524451,;C11orf30,non_coding_transcript_exon_variant,,ENST00000531641,;							LOW	2227/3969		EMSY_HUMAN			Transcript			.	ENSP00000334130		CCDS8244.1			1	
OBSCN	0	LGGM	GRCh37	1	228496875	228496875	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	3	.	.	ENST00000570156.2:c.15686G>T	p.Arg5229Leu	p.R5229L	ENST00000570156	NM_001271223.2	5229	cGg/cTg	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=4250&to=4337&var=R4272L	ENST00000422127		ENSG00000154358	15719		8	1.47		HGNC	p.R4984L		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228496875,G,T&fts=all		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		R/L		T	low	12859/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=4250&re=4337&var=R4272L						OBSCN,missense_variant,p.Arg5229Leu,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg1906Leu,ENST00000366707,;OBSCN,missense_variant,p.Arg4272Leu,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg4272Leu,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Arg1391Leu,ENST00000366709,;OBSCN,downstream_gene_variant,,ENST00000359599,;OBSCN,downstream_gene_variant,,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000602832,;							MODERATE	12815/23907	R4272L	OBSCN_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000409493		CCDS58065.1			1	
GAK	0	LGGM	GRCh37	4	898457	898457	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	4	3	.	.	ENST00000314167.4:c.493C>A	p.Gln165Lys	p.Q165K	ENST00000314167	NM_005255.2	165	Cag/Aag	0	1	1	UPI000012B04A	0	getma.org/pdb.php?prot=GAK_HUMAN&from=40&to=313&var=Q165K	ENST00000314167		ENSG00000178950	4113		7	0.525		HGNC	p.Q86K		GAK		SNV							ENST00000511163	protein_coding	getma.org/?cm=var&var=hg19,4,898457,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF34,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/K		T	neutral	604/4442		getma.org/?cm=msa&ty=f&p=GAK_HUMAN&rb=40&re=313&var=Q165K	deleterious(0)	Q59HA5_HUMAN,D6RF16_HUMAN,D6RC24_HUMAN			YES	GAK,missense_variant,p.Gln165Lys,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Gln86Lys,ENST00000511163,;GAK,intron_variant,,ENST00000502656,;GAK,downstream_gene_variant,,ENST00000511229,;GAK,non_coding_transcript_exon_variant,,ENST00000510022,;GAK,3_prime_UTR_variant,,ENST00000505819,;GAK,3_prime_UTR_variant,,ENST00000512325,;GAK,non_coding_transcript_exon_variant,,ENST00000507991,;GAK,intron_variant,,ENST00000507580,;							MODERATE	493/3936	Q165K	GAK_HUMAN			Transcript		possibly_damaging(0.571)	.	ENSP00000314499		CCDS3340.1			1	
RTN4RL2	0	LGGM	GRCh37	11	57235445	57235445	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000335099.3:c.395G>T	p.Arg132Leu	p.R132L	ENST00000335099	NM_178570.2	132	cGg/cTg	0	1	1	UPI000004A2DB	0	getma.org/pdb.php?prot=R4RL2_HUMAN&from=107&to=167&var=R132L	ENST00000335099		ENSG00000186907	23053		33	1.68		HGNC	p.R132L		RTN4RL2		SNV							ENST00000533205	protein_coding	getma.org/?cm=var&var=hg19,11,57235445,G,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF14,SMART_domains:SM00369,Superfamily_domains:SSF52058		R/L		T	low	712/2203		getma.org/?cm=msa&ty=f&p=R4RL2_HUMAN&rb=107&re=167&var=R132L	deleterious(0)				YES	RTN4RL2,missense_variant,p.Arg132Leu,ENST00000335099,NM_178570.2;RTN4RL2,missense_variant,p.Arg132Leu,ENST00000533205,;RTN4RL2,missense_variant,p.Arg132Leu,ENST00000395120,;							MODERATE	395/1263	R132L	R4RL2_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000335397		CCDS7957.1			1	
RSAD1	0	LGGM	GRCh37	17	48557263	48557263	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	3	.	.	ENST00000258955.2:c.292G>T	p.Gly98Trp	p.G98W	ENST00000258955	NM_018346.1	98	Ggg/Tgg	0	1	1	UPI0000070E2E	0	getma.org/pdb.php?prot=RSAD1_HUMAN&from=43&to=207&var=G98W	ENST00000258955		ENSG00000136444	25634		16	4.315		HGNC	p.G98W	rs775681156	RSAD1		SNV							ENST00000258955	protein_coding	getma.org/?cm=var&var=hg19,17,48557263,G,T&fts=all		hmmpanther:PTHR13932:SF5,hmmpanther:PTHR13932,TIGRFAM_domain:TIGR00539,Gene3D:2qgqB01,Pfam_domain:PF04055,SMART_domains:SM00729,Superfamily_domains:SSF102114		G/W		T	high	377/2528	1.51E-05	getma.org/?cm=msa&ty=f&p=RSAD1_HUMAN&rb=43&re=207&var=G98W	deleterious(0)	K7EKD3_HUMAN			YES	RSAD1,missense_variant,p.Gly98Trp,ENST00000258955,NM_018346.1;RSAD1,missense_variant,p.Gly28Trp,ENST00000510554,;RSAD1,non_coding_transcript_exon_variant,,ENST00000443328,;RSAD1,intron_variant,,ENST00000504284,;RSAD1,intron_variant,,ENST00000515221,;RSAD1,upstream_gene_variant,,ENST00000506211,;RSAD1,upstream_gene_variant,,ENST00000513650,;RSAD1,upstream_gene_variant,,ENST00000509398,;							MODERATE	292/1329	G98W	RSAD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258955	8.24E-06	CCDS11569.1			1	
STK11IP	0	LGGM	GRCh37	2	220472817	220472817	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	3	.	.	ENST00000295641.10:c.1301G>T	p.Arg434Leu	p.R434L	ENST00000295641	NM_052902.2	434	cGg/cTg	0	1	1	UPI0001AE7798	0	NA	ENST00000295641		ENSG00000144589	19184		21	2.095		HGNC	p.R423L		STK11IP		SNV							ENST00000456909	protein_coding	getma.org/?cm=var&var=hg19,2,220472817,G,T&fts=all		hmmpanther:PTHR15454,hmmpanther:PTHR15454:SF16		R/L		T	medium	1344/3601		getma.org/?cm=msa&ty=f&p=S11IP_HUMAN&rb=411&re=1098&var=R434L	deleterious(0)	C9JQV3_HUMAN			YES	STK11IP,missense_variant,p.Arg423Leu,ENST00000456909,;STK11IP,missense_variant,p.Arg434Leu,ENST00000295641,NM_052902.2;STK11IP,upstream_gene_variant,,ENST00000483319,;STK11IP,downstream_gene_variant,,ENST00000459692,;STK11IP,non_coding_transcript_exon_variant,,ENST00000475396,;STK11IP,upstream_gene_variant,,ENST00000413891,;STK11IP,downstream_gene_variant,,ENST00000465230,;STK11IP,upstream_gene_variant,,ENST00000495941,;STK11IP,upstream_gene_variant,,ENST00000473899,;STK11IP,downstream_gene_variant,,ENST00000466648,;							MODERATE	1301/3300	R434L	S11IP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000295641		CCDS46521.1			1	
SLC6A9	0	LGGM	GRCh37	1	44467190	44467190	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	3	.	.	ENST00000360584.2:c.1291C>A	p.Arg431Ser	p.R431S	ENST00000360584	NM_201649.3	431	Cgt/Agt	0	1	1	UPI000053030B	0	getma.org/pdb.php?prot=SC6A9_HUMAN&from=100&to=635&var=R431S	ENST00000360584		ENSG00000196517	11056		31	-0.915		HGNC	p.R247S		SLC6A9		SNV							ENST00000475075	protein_coding	getma.org/?cm=var&var=hg19,1,44467190,G,T&fts=all		PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF110,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687		R/S		T	neutral	1483/2330		getma.org/?cm=msa&ty=f&p=SC6A9_HUMAN&rb=100&re=635&var=R431S	tolerated(0.51)	B7Z589_HUMAN			YES	SLC6A9,missense_variant,p.Arg358Ser,ENST00000372310,NM_001024845.2;SLC6A9,missense_variant,p.Arg431Ser,ENST00000360584,NM_201649.3;SLC6A9,missense_variant,p.Arg377Ser,ENST00000357730,NM_006934.3,NM_001261380.1;SLC6A9,missense_variant,p.Arg293Ser,ENST00000372307,;SLC6A9,missense_variant,p.Arg358Ser,ENST00000372306,;SLC6A9,missense_variant,p.Arg247Ser,ENST00000475075,;SLC6A9,missense_variant,p.Arg293Ser,ENST00000537678,;CCDC24,downstream_gene_variant,,ENST00000372318,NM_152499.1;CCDC24,downstream_gene_variant,,ENST00000486064,;CCDC24,downstream_gene_variant,,ENST00000490563,;CCDC24,downstream_gene_variant,,ENST00000463846,;							MODERATE	1291/2121	R431S	SC6A9_HUMAN			Transcript		benign(0.042)	.	ENSP00000353791		CCDS41317.1			1	
SMYD4	0	LGGM	GRCh37	17	1703947	1703947	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	3	.	.	ENST00000305513.7:c.741C>A	p.Leu247=	p.L247=	ENST00000305513	NM_052928.2	247	ctC/ctA	0	1	1	UPI000013EA5C	0		ENST00000305513		ENSG00000186532	21067		37			HGNC	p.L51L		SMYD4		SNV							ENST00000491788	protein_coding			Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF152,Superfamily_domains:SSF82199		L		T		909/4384				I3L496_HUMAN,I3L428_HUMAN,I3L2P4_HUMAN			YES	SMYD4,synonymous_variant,p.=,ENST00000305513,NM_052928.2;SMYD4,synonymous_variant,p.=,ENST00000491788,;SMYD4,downstream_gene_variant,,ENST00000570368,;SMYD4,downstream_gene_variant,,ENST00000571854,;SMYD4,downstream_gene_variant,,ENST00000573937,;							LOW	741/2415		SMYD4_HUMAN			Transcript			.	ENSP00000304360		CCDS11013.1			1	
HSPG2	0	LGGM	GRCh37	1	22179274	22179274	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000374695.3:c.6643G>T	p.Glu2215Ter	p.E2215*	ENST00000374695	NM_005529.5	2215	Gag/Tag	0	1	1	UPI0000212778	0	NA	ENST00000374695		ENSG00000142798	5273		18	0		HGNC	p.E161X		HSPG2		SNV			1				ENST00000430507	protein_coding	getma.org/?cm=var&var=hg19,1,22179274,C,A&fts=all		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		E/*		A	NA	6723/14327		NA		B6EU51_HUMAN			YES	HSPG2,stop_gained,p.Glu2215Ter,ENST00000374695,NM_005529.5;HSPG2,stop_gained,p.Glu161Ter,ENST00000430507,;HSPG2,upstream_gene_variant,,ENST00000453796,;HSPG2,intron_variant,,ENST00000493940,;							HIGH	6643/13176	E2215*	PGBM_HUMAN			Transcript			.	ENSP00000363827		CCDS30625.1			1	
BAIAP2L1	0	LGGM	GRCh37	7	97937118	97937118	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	3	.	.	ENST00000005260.8:c.1046C>A	p.Pro349Gln	p.P349Q	ENST00000005260	NM_018842.4	349	cCg/cAg	0	1	1	UPI0000035DA9	0	getma.org/pdb.php?prot=BI2L1_HUMAN&from=343&to=399&var=P349Q	ENST00000005260		ENSG00000006453	21649		29	2.54		HGNC	p.P349Q	COSM3883672	BAIAP2L1		SNV						1	ENST00000005260	protein_coding	getma.org/?cm=var&var=hg19,7,97937118,G,T&fts=all		Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF14604,Gene3D:2.30.30.40,hmmpanther:PTHR14206,hmmpanther:PTHR14206:SF4,PROSITE_profiles:PS50002		P/Q		T	medium	1262/3622		getma.org/?cm=msa&ty=f&p=BI2L1_HUMAN&rb=343&re=399&var=P349Q	deleterious(0)				YES	BAIAP2L1,missense_variant,p.Pro349Gln,ENST00000005260,NM_018842.4;RP4-607J23.2,upstream_gene_variant,,ENST00000608882,;RP4-607J23.2,upstream_gene_variant,,ENST00000609873,;BRI3,non_coding_transcript_exon_variant,,ENST00000485422,;BAIAP2L1,downstream_gene_variant,,ENST00000462558,;BAIAP2L1,upstream_gene_variant,,ENST00000480580,;BRI3,downstream_gene_variant,,ENST00000491463,;					1		MODERATE	1046/1536	P349Q	BI2L1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000005260		CCDS34687.1			1	
NALF1	0	LGGM	GRCh37	13	108518140	108518140	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	3	.	.	ENST00000375915.2:c.805C>G	p.Gln269Glu	p.Q269E	ENST00000375915	NM_001080396.2	269	Cag/Gag	0	1	1	UPI000045882C	0	NA	ENST00000375915		ENSG00000204442	33877		49	1.175		HGNC	p.Q269E		FAM155A		SNV							ENST00000375915	protein_coding	getma.org/?cm=var&var=hg19,13,108518140,G,C&fts=all		hmmpanther:PTHR15819,hmmpanther:PTHR15819:SF2		Q/E		C	low	944/3478		getma.org/?cm=msa&ty=f&p=F155A_HUMAN&rb=1&re=456&var=Q269E	deleterious(0.02)				YES	FAM155A,missense_variant,p.Gln269Glu,ENST00000375915,NM_001080396.2;							MODERATE	805/1377	Q269E	F155A_HUMAN			Transcript		possibly_damaging(0.731)	.	ENSP00000365080		CCDS32006.1			1	
TES	0	LGGM	GRCh37	7	115892009	115892009	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000358204.4:c.898C>A	p.Arg300=	p.R300=	ENST00000358204	NM_015641.3	300	Cga/Aga	0	1	1	UPI0000136BF9	0		ENST00000358204		ENSG00000135269	14620		23			HGNC	p.R58R		TES		SNV							ENST00000537767	protein_coding			PROSITE_profiles:PS50023,hmmpanther:PTHR24211:SF1,hmmpanther:PTHR24211,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716		R		A		1113/2782				A4D0U5_HUMAN,Q9Y423_HUMAN,F8W7T0_HUMAN,B7Z6L5_HUMAN			YES	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,;							LOW	898/1266		TES_HUMAN			Transcript			.	ENSP00000350937		CCDS5763.1			1	
WNT7A	0	LGGM	GRCh37	3	13896294	13896294	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000285018.4:c.305G>T	p.Arg102Leu	p.R102L	ENST00000285018	NM_004625.3	102	cGg/cTg	0	1	1	UPI0000033777	0	getma.org/pdb.php?prot=WNT7A_HUMAN&from=37&to=349&var=R102L	ENST00000285018		ENSG00000154764	12786		18	3.045		HGNC	p.R102L		WNT7A		SNV			1				ENST00000285018	protein_coding	getma.org/?cm=var&var=hg19,3,13896294,C,A&fts=all		hmmpanther:PTHR12027:SF78,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01349		R/L		A	medium	610/4041		getma.org/?cm=msa&ty=f&p=WNT7A_HUMAN&rb=37&re=349&var=R102L	deleterious(0.04)				YES	WNT7A,missense_variant,p.Arg102Leu,ENST00000285018,NM_004625.3;							MODERATE	305/1050	R102L	WNT7A_HUMAN			Transcript		benign(0.274)	.	ENSP00000285018		CCDS2616.1			1	
ITGA11	0	LGGM	GRCh37	15	68606167	68606167	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	3	.	.	ENST00000315757.7:c.2832G>T	p.Val944=	p.V944=	ENST00000315757	NM_001004439.1	944	gtG/gtT	0	1	1	UPI00001FE74D	0		ENST00000315757		ENSG00000137809	6136		12			HGNC	p.V944V		ITGA11		SNV							ENST00000423218	protein_coding			Gene3D:2.60.40.1510,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,Superfamily_domains:SSF69179		V		A		2919/5001							YES	ITGA11,synonymous_variant,p.=,ENST00000423218,;ITGA11,synonymous_variant,p.=,ENST00000315757,NM_001004439.1;							LOW	2832/3567		ITA11_HUMAN			Transcript			.	ENSP00000327290		CCDS45291.1			1	
HIPK4	0	LGGM	GRCh37	19	40889882	40889882	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000291823.2:c.630G>T	p.Leu210=	p.L210=	ENST00000291823	NM_144685.3	210	ctG/ctT	0	1	1	UPI000006DCD3	0		ENST00000291823		ENSG00000160396	19007		10			HGNC	p.L210L		HIPK4		SNV							ENST00000291823	protein_coding			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF46,PROSITE_profiles:PS50011		L		A		915/2452				B4DWX2_HUMAN			YES	HIPK4,synonymous_variant,p.=,ENST00000291823,NM_144685.3;PLD3,downstream_gene_variant,,ENST00000486134,;							LOW	630/1851		HIPK4_HUMAN			Transcript			.	ENSP00000291823		CCDS12555.1			1	
ITGA11	0	LGGM	GRCh37	15	68631869	68631869	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	3	.	.	ENST00000315757.7:c.1245C>A	p.Pro415=	p.P415=	ENST00000315757	NM_001004439.1	415	ccC/ccA	0	1	1	UPI00001FE74D	0		ENST00000315757		ENSG00000137809	6136		23			HGNC	p.P415P		ITGA11		SNV							ENST00000423218	protein_coding			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,Superfamily_domains:SSF69318		P		T		1332/5001							YES	ITGA11,synonymous_variant,p.=,ENST00000423218,;ITGA11,synonymous_variant,p.=,ENST00000315757,NM_001004439.1;ITGA11,non_coding_transcript_exon_variant,,ENST00000566429,;ITGA11,upstream_gene_variant,,ENST00000569346,;							LOW	1245/3567		ITA11_HUMAN			Transcript			.	ENSP00000327290		CCDS45291.1			1	
FREM2	0	LGGM	GRCh37	13	39343915	39343915	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	3	.	.	ENST00000280481.7:c.5611G>T	p.Ala1871Ser	p.A1871S	ENST00000280481	NM_207361.4	1871	Gcc/Tcc	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		28	2.55		HGNC	p.A1871S		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39343915,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		A/S		T	medium	5827/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=1871&re=1982&var=A1871S	tolerated(0.06)				YES	FREM2,missense_variant,p.Ala1871Ser,ENST00000280481,NM_207361.4;							MODERATE	5611/9510	A1871S	FREM2_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000280481		CCDS31960.1			1	
MAD2L2	0	LGGM	GRCh37	1	11740637	11740637	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000235310.3:c.22G>T	p.Asp8Tyr	p.D8Y	ENST00000235310		8	Gac/Tac	0	1	1	UPI0000000DF1	0	NA	ENST00000235310		ENSG00000116670	6764		10	1.245		HGNC	p.D8Y		MAD2L2		SNV							ENST00000376672	protein_coding	getma.org/?cm=var&var=hg19,1,11740637,C,A&fts=all		Gene3D:1go4B00,hmmpanther:PTHR11842,hmmpanther:PTHR11842:SF10		D/Y		A	low	951/1860		getma.org/?cm=msa&ty=f&p=MD2L2_HUMAN&rb=1&re=41&var=D8Y	deleterious(0.01)	B1AK45_HUMAN			YES	MAD2L2,missense_variant,p.Asp8Tyr,ENST00000235310,;MAD2L2,missense_variant,p.Asp8Tyr,ENST00000376692,NM_006341.3;MAD2L2,missense_variant,p.Asp8Tyr,ENST00000456915,;MAD2L2,missense_variant,p.Asp8Tyr,ENST00000376672,;MAD2L2,missense_variant,p.Asp8Tyr,ENST00000376667,NM_001127325.1;MAD2L2,missense_variant,p.Asp8Tyr,ENST00000376669,;MAD2L2,missense_variant,p.Asp8Tyr,ENST00000445656,;MAD2L2,non_coding_transcript_exon_variant,,ENST00000376655,;MAD2L2,non_coding_transcript_exon_variant,,ENST00000376664,;							MODERATE	22/636	D8Y	MD2L2_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000235310		CCDS134.1			1	
NTF3	0	LGGM	GRCh37	12	5603888	5603888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000423158.3:c.547G>A	p.Gly183Arg	p.G183R	ENST00000423158	NM_001102654.1	183	Gga/Aga	0	1		UPI0000048FDB	0	getma.org/pdb.php?prot=NTF3_HUMAN&from=141&to=256&var=G170R	ENST00000331010		ENSG00000185652	8023		24	2.7		HGNC	p.G170R		NTF3		SNV							ENST00000331010	protein_coding	getma.org/?cm=var&var=hg19,12,5603888,G,A&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF00243,PIRSF_domain:PIRSF001789,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF4,SMART_domains:SM00140,Superfamily_domains:SSF57501		G/R		A	medium	591/1167		getma.org/?cm=msa&ty=f&p=NTF3_HUMAN&rb=141&re=256&var=G170R	deleterious(0)					NTF3,missense_variant,p.Gly183Arg,ENST00000423158,NM_001102654.1;NTF3,missense_variant,p.Gly170Arg,ENST00000331010,NM_002527.4;NTF3,intron_variant,,ENST00000535299,;NTF3,downstream_gene_variant,,ENST00000543548,;							MODERATE	508/774	G170R	NTF3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000328738		CCDS8538.1			1	
BBS10	0	LGGM	GRCh37	12	76741020	76741020	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	3	.	.	ENST00000393262.3:c.745C>A	p.Arg249Ser	p.R249S	ENST00000393262	NM_024685.3	249	Cgc/Agc	0	1	1	UPI0000D720FE	0	NA	ENST00000393262		ENSG00000179941	26291		40	0.69		HGNC	p.R249S	COSM1476942	BBS10		SNV			1			1	ENST00000393262	protein_coding	getma.org/?cm=var&var=hg19,12,76741020,G,T&fts=all		hmmpanther:PTHR14667,Gene3D:3.50.7.10,Pfam_domain:PF00118		R/S		T	neutral	829/3595		getma.org/?cm=msa&ty=f&p=BBS10_HUMAN&rb=138&re=430&var=R249S	deleterious(0.02)				YES	BBS10,missense_variant,p.Arg249Ser,ENST00000393262,NM_024685.3;OSBPL8,downstream_gene_variant,,ENST00000261183,NM_020841.4;OSBPL8,downstream_gene_variant,,ENST00000393249,;					1		MODERATE	745/2172	R249S	BBS10_HUMAN			Transcript		benign(0.013)	.	ENSP00000376946		CCDS9014.2			1	
DRD5	0	LGGM	GRCh37	4	9784494	9784494	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	3	.	.	ENST00000304374.2:c.841G>T	p.Asp281Tyr	p.D281Y	ENST00000304374	NM_000798.4	281	Gac/Tac	0	1	1	UPI000004E905	0	getma.org/pdb.php?prot=DRD5_HUMAN&from=57&to=359&var=D281Y	ENST00000304374		ENSG00000169676	3026		13	1.285		HGNC	p.D281Y		DRD5		SNV			1				ENST00000304374	protein_coding	getma.org/?cm=var&var=hg19,4,9784494,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321		D/Y		T	low	1237/2375		getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=57&re=359&var=D281Y	deleterious(0)				YES	DRD5,missense_variant,p.Asp281Tyr,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;							MODERATE	841/1434	D281Y	DRD5_HUMAN			Transcript		benign(0.417)	.	ENSP00000306129		CCDS3405.1			1	
PRF1	0	LGGM	GRCh37	10	72358852	72358852	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000441259.1:c.625C>A	p.Gln209Lys	p.Q209K	ENST00000441259	NM_005041.4	209	Cag/Aag	0	1		UPI000013162B	0	getma.org/pdb.php?prot=PERF_HUMAN&from=147&to=367&var=Q209K	ENST00000373209		ENSG00000180644	9360		11	-0.95		HGNC	p.Q209K		PRF1		SNV			1				ENST00000441259	protein_coding	getma.org/?cm=var&var=hg19,10,72358852,G,T&fts=all		PROSITE_profiles:PS51412,Pfam_domain:PF01823,SMART_domains:SM00457		Q/K		T	neutral	744/2492		getma.org/?cm=msa&ty=f&p=PERF_HUMAN&rb=147&re=367&var=Q209K	tolerated(0.63)	S5S2F2_HUMAN,S5RDP5_HUMAN				PRF1,missense_variant,p.Gln209Lys,ENST00000441259,NM_005041.4,NM_001083116.1;PRF1,missense_variant,p.Gln209Lys,ENST00000373209,;							MODERATE	625/1668	Q209K	PERF_HUMAN			Transcript		benign(0.002)	.	ENSP00000362305		CCDS7305.1			1	
ST6GALNAC1	0	LGGM	GRCh37	17	74621458	74621458	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	3	.	.	ENST00000156626.7:c.1757G>T	p.Arg586Leu	p.R586L	ENST00000156626	NM_018414.3	586	cGg/cTg	0	1	1	UPI0000001C00	0	getma.org/pdb.php?prot=SIA7A_HUMAN&from=298&to=591&var=R586L	ENST00000156626		ENSG00000070526	23614		27	2.03		HGNC	p.R586L		ST6GALNAC1		SNV							ENST00000156626	protein_coding	getma.org/?cm=var&var=hg19,17,74621458,C,A&fts=all		hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713,Pfam_domain:PF00777		R/L		A	medium	1957/2570		getma.org/?cm=msa&ty=f&p=SIA7A_HUMAN&rb=298&re=591&var=R586L					YES	ST6GALNAC1,missense_variant,p.Arg586Leu,ENST00000156626,NM_018414.3;ST6GALNAC1,downstream_gene_variant,,ENST00000590784,;ST6GALNAC1,downstream_gene_variant,,ENST00000590878,;ST6GALNAC1,downstream_gene_variant,,ENST00000589004,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000585633,;ST6GALNAC1,downstream_gene_variant,,ENST00000588375,;ST6GALNAC1,downstream_gene_variant,,ENST00000589813,;							MODERATE	1757/1803	R586L	SIA7A_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000156626		CCDS11748.1			1	
NCOA7	0	LGGM	GRCh37	6	126210901	126210901	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000368357.3:c.1701G>T	p.Ala567=	p.A567=	ENST00000368357	NM_001199619.1	567	gcG/gcT	0	1	1	UPI00001AE66D	0		ENST00000368357		ENSG00000111912	21081		33			HGNC	p.A567A		NCOA7		SNV							ENST00000392477	protein_coding			hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354		A		T		2053/5521				Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN			YES	NCOA7,synonymous_variant,p.=,ENST00000368357,NM_001199619.1,NM_001199620.1;NCOA7,synonymous_variant,p.=,ENST00000392477,NM_001122842.2,NM_181782.4;NCOA7,synonymous_variant,p.=,ENST00000229634,NM_001199621.1;NCOA7,synonymous_variant,p.=,ENST00000413085,;							LOW	1701/2829		NCOA7_HUMAN			Transcript			.	ENSP00000357341		CCDS5132.1			1	
LIN9	0	LGGM	GRCh37	1	226455658	226455658	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	3	.	.	ENST00000328205.5:c.864C>A	p.Leu288=	p.L288=	ENST00000328205	NM_173083.3	288	ctC/ctA	0	1	1	UPI00001B2F3C	0		ENST00000328205		ENSG00000183814	30830		39			HGNC	p.L237L		LIN9		SNV							ENST00000366801	protein_coding			hmmpanther:PTHR21689		L		T		1410/3567				B1B047_HUMAN			YES	LIN9,splice_region_variant,p.=,ENST00000328205,NM_173083.3;LIN9,splice_region_variant,p.=,ENST00000366801,NM_001270409.1;LIN9,splice_region_variant,p.=,ENST00000366808,NM_001270410.1;LIN9,splice_region_variant,p.=,ENST00000460719,;LIN9,splice_region_variant,p.=,ENST00000481685,;							LOW	864/1677		LIN9_HUMAN			Transcript			.	ENSP00000329102		CCDS1553.1			1	
ECEL1	0	LGGM	GRCh37	2	233348866	233348866	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000304546.1:c.1252C>T	p.Arg418Cys	p.R418C	ENST00000304546	NM_004826.2	418	Cgt/Tgt	0	1	1	UPI000013E997	0	getma.org/pdb.php?prot=ECEL1_HUMAN&from=123&to=513&var=R418C	ENST00000304546	pathogenic	ENSG00000171551	3147		24	2.325		HGNC	p.R418C	rs587776919	ECEL1		SNV			1	9.77E-05		1	ENST00000409941	protein_coding	getma.org/?cm=var&var=hg19,2,233348866,G,A&fts=all		Superfamily_domains:SSF55486,Pfam_domain:PF05649,Gene3D:3.40.390.10,hmmpanther:PTHR11733:SF108,hmmpanther:PTHR11733		R/C		A	medium	1463/2865	1.52E-05	getma.org/?cm=msa&ty=f&p=ECEL1_HUMAN&rb=123&re=513&var=R418C	deleterious(0)				YES	ECEL1,missense_variant,p.Arg418Cys,ENST00000304546,NM_004826.2;ECEL1,missense_variant,p.Arg418Cys,ENST00000409941,;ECEL1,upstream_gene_variant,,ENST00000411860,;ECEL1,non_coding_transcript_exon_variant,,ENST00000482346,;							MODERATE	1252/2328	R418C	ECEL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000302051	1.65E-05	CCDS2493.1			1	
RBM15B	0	LGGM	GRCh37	3	51429792	51429792	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000323686.4:c.962C>A	p.Ala321Asp	p.A321D	ENST00000323686	NM_013286.4	321	gCt/gAt	0	1	1	UPI0000160BDE	0	NA	ENST00000323686		ENSG00000179837	24303		15	0.345		HGNC	p.A321D		RBM15B		SNV							ENST00000323686	protein_coding	getma.org/?cm=var&var=hg19,3,51429792,C,A&fts=all		hmmpanther:PTHR23189:SF40,hmmpanther:PTHR23189		A/D		A	neutral	1062/6600		getma.org/?cm=msa&ty=f&p=RB15B_HUMAN&rb=135&re=334&var=A321D	tolerated(0.6)				YES	RBM15B,missense_variant,p.Ala321Asp,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,;							MODERATE	962/2673	A321D	RB15B_HUMAN			Transcript		benign(0.191)	.	ENSP00000313890		CCDS33764.1			1	
PFAS	0	LGGM	GRCh37	17	8168670	8168670	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000314666.6:c.2345C>A	p.Ala782Glu	p.A782E	ENST00000314666	NM_012393.2	782	gCg/gAg	0	1	1	UPI00001A95E5	0	getma.org/pdb.php?prot=PUR4_HUMAN&from=604&to=803&var=A782E	ENST00000314666		ENSG00000178921	8863		11	0.345		HGNC	p.A782E		PFAS		SNV							ENST00000314666	protein_coding	getma.org/?cm=var&var=hg19,17,8168670,C,A&fts=all		Superfamily_domains:SSF55326,TIGRFAM_domain:TIGR01735,Gene3D:3.30.1330.10,hmmpanther:PTHR10099:SF1,hmmpanther:PTHR10099		A/E		A	neutral	2478/5371		getma.org/?cm=msa&ty=f&p=PUR4_HUMAN&rb=604&re=803&var=A782E	deleterious(0.01)	Q9BR56_HUMAN,Q6P4B4_HUMAN,J3QSH6_HUMAN,J3QL39_HUMAN,J3KTL4_HUMAN,F5GWT9_HUMAN			YES	PFAS,missense_variant,p.Ala782Glu,ENST00000314666,NM_012393.2;PFAS,missense_variant,p.Ala358Glu,ENST00000545834,;PFAS,upstream_gene_variant,,ENST00000546020,;PFAS,downstream_gene_variant,,ENST00000583059,;PFAS,downstream_gene_variant,,ENST00000585319,;PFAS,3_prime_UTR_variant,,ENST00000580356,;PFAS,upstream_gene_variant,,ENST00000578979,;PFAS,upstream_gene_variant,,ENST00000580251,;PFAS,downstream_gene_variant,,ENST00000581288,;							MODERATE	2345/4017	A782E	PUR4_HUMAN			Transcript		benign(0.136)	.	ENSP00000313490		CCDS11136.1			1	
CACNA2D2	0	LGGM	GRCh37	3	50418428	50418428	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	3	.	.	ENST00000479441.1:c.782C>A	p.Pro261Gln	p.P261Q	ENST00000479441		261	cCg/cAg	0	1	1	UPI0000E5A6AF	0	NA	ENST00000479441		ENSG00000007402	1400		17	3.02		HGNC	p.P192Q		CACNA2D2		SNV							ENST00000360963	protein_coding	getma.org/?cm=var&var=hg19,3,50418428,G,T&fts=all		hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166,Pfam_domain:PF08399,Gene3D:3.30.450.20		P/Q		T	medium	782/3453		getma.org/?cm=msa&ty=f&p=CA2D2_HUMAN&rb=141&re=265&var=P261Q	deleterious(0.01)				YES	CACNA2D2,missense_variant,p.Pro261Gln,ENST00000435965,;CACNA2D2,missense_variant,p.Pro261Gln,ENST00000395083,;CACNA2D2,missense_variant,p.Pro261Gln,ENST00000266039,;CACNA2D2,missense_variant,p.Pro261Gln,ENST00000423994,NM_001174051.1;CACNA2D2,missense_variant,p.Pro261Gln,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,missense_variant,p.Pro192Gln,ENST00000360963,;CACNA2D2,missense_variant,p.Pro261Gln,ENST00000424201,;CACNA2D2,missense_variant,p.Pro261Gln,ENST00000479441,;							MODERATE	782/3453	P261Q	CA2D2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000418081		CCDS54588.1			1	
WDR59	0	LGGM	GRCh37	16	74923696	74923696	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000262144.6:c.2100G>T	p.Thr700=	p.T700=	ENST00000262144	NM_030581.3	700	acG/acT	0	1	1	UPI000019839C	0		ENST00000262144		ENSG00000103091	25706	8.68E-05	24			HGNC	p.T700T	rs145360783	WDR59		SNV	T:0						ENST00000262144	protein_coding			hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF96		T	T:0.0005	A		2231/3695	1.51E-05			H3BUE9_HUMAN,H3BR95_HUMAN			YES	WDR59,synonymous_variant,p.=,ENST00000262144,NM_030581.3;WDR59,synonymous_variant,p.=,ENST00000569229,;WDR59,intron_variant,,ENST00000563797,;WDR59,3_prime_UTR_variant,,ENST00000566924,;WDR59,non_coding_transcript_exon_variant,,ENST00000569788,;WDR59,non_coding_transcript_exon_variant,,ENST00000563381,;WDR59,non_coding_transcript_exon_variant,,ENST00000567018,;WDR59,upstream_gene_variant,,ENST00000569183,;WDR59,downstream_gene_variant,,ENST00000570070,;WDR59,upstream_gene_variant,,ENST00000569968,;							LOW	2100/2925		WDR59_HUMAN			Transcript			.	ENSP00000262144	1.65E-05	CCDS32488.1			1	
N4BP1	0	LGGM	GRCh37	16	48577138	48577138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	3	.	.	ENST00000262384.3:c.2368G>T	p.Val790Leu	p.V790L	ENST00000262384	NM_153029.3	790	Gtg/Ttg	0	1	1	UPI000013D2A2	0	NA	ENST00000262384		ENSG00000102921	29850		22	1.445		HGNC	p.V790L		N4BP1		SNV							ENST00000262384	protein_coding	getma.org/?cm=var&var=hg19,16,48577138,C,A&fts=all				V/L		A	low	2605/7106		getma.org/?cm=msa&ty=f&p=N4BP1_HUMAN&rb=770&re=896&var=V790L	tolerated(0.41)	I3L3R7_HUMAN			YES	N4BP1,missense_variant,p.Val790Leu,ENST00000262384,NM_153029.3;N4BP1,non_coding_transcript_exon_variant,,ENST00000565423,;N4BP1,downstream_gene_variant,,ENST00000565638,;N4BP1,non_coding_transcript_exon_variant,,ENST00000569027,;N4BP1,downstream_gene_variant,,ENST00000564124,;							MODERATE	2368/2691	V790L	N4BP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000262384		CCDS45479.1			1	
MYH6	0	LGGM	GRCh37	14	23858809	23858809	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	3	.	.	ENST00000405093.3:c.3852C>A	p.Thr1284=	p.T1284=	ENST00000405093	NM_002471.3	1284	acC/acA	0	1		UPI0000160969	0		ENST00000356287		ENSG00000197616	7576		24			HGNC	p.T1284T	rs141143152	MYH6		SNV	A:0		1				ENST00000356287	protein_coding		A:0.0008	Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,Superfamily_domains:SSF90257		T	A:0.0001	T		3882/5871	1.50E-05			Q9UQV1_HUMAN,A8CLL2_HUMAN	A:0	A:0		MYH6,synonymous_variant,p.=,ENST00000405093,NM_002471.3;MYH6,synonymous_variant,p.=,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;		A:0.0002					LOW	3852/5820		MYH6_HUMAN		A:0	Transcript			.	ENSP00000348634	8.24E-06	CCDS9600.1		A:0	1	
RCAN3	0	LGGM	GRCh37	1	24861605	24861605	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000374395.4:c.564G>T	p.Ala188=	p.A188=	ENST00000374395	NM_001251984.1	188	gcG/gcT	0	1	1	UPI0000001C4A	0		ENST00000374395		ENSG00000117602	3042		15			HGNC	p.R131L		RCAN3		SNV							ENST00000412742	protein_coding			hmmpanther:PTHR10300,hmmpanther:PTHR10300:SF6,Pfam_domain:PF04847		A		T		877/6802				Q5TGC7_HUMAN,G1FLF0_HUMAN,E5L4P7_HUMAN,E5L4P0_HUMAN,E3VWE2_HUMAN,C8CJH0_HUMAN			YES	RCAN3,missense_variant,p.Arg131Leu,ENST00000412742,NM_001251982.1;RCAN3,missense_variant,p.Arg73Leu,ENST00000374393,NM_001251985.1;RCAN3,synonymous_variant,p.=,ENST00000374395,NM_001251984.1,NM_001251978.1,NM_001251979.1;RCAN3,synonymous_variant,p.=,ENST00000436717,NM_001251977.1,NM_013441.3,NM_001251980.1;RCAN3,synonymous_variant,p.=,ENST00000538532,NM_001251981.1;RP4-594I10.3,downstream_gene_variant,,ENST00000577528,;RCAN3,synonymous_variant,p.=,ENST00000482807,;							LOW	564/726		RCAN3_HUMAN			Transcript			.	ENSP00000363516		CCDS254.1			1	
POM121L2	0	LGGM	GRCh37	6	27276885	27276885	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	3	.	.	ENST00000444565.1:c.3065G>T	p.Arg1022Leu	p.R1022L	ENST00000444565	NM_033482.3	1022	cGg/cTg	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		41	2.05		HGNC	p.R958L		POM121L2		SNV							ENST00000377451	protein_coding	getma.org/?cm=var&var=hg19,6,27276885,C,A&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		R/L		A	medium	3065/3108		getma.org/?cm=msa&ty=f&p=P12L2_HUMAN&rb=1&re=969&var=R958L	deleterious(0.01)	C9J1I7_HUMAN			YES	POM121L2,missense_variant,p.Arg1022Leu,ENST00000444565,NM_033482.3;POM121L2,missense_variant,p.Arg958Leu,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;							MODERATE	3065/3108	R958L				Transcript		benign(0.12)	.	ENSP00000392726		CCDS59497.1			1	
SDPR	0	LGGM	GRCh37	2	192711509	192711509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	3	.	.	ENST00000304141.4:c.143G>T	p.Arg48Leu	p.R48L	ENST00000304141	NM_004657.5	48	cGg/cTg	0	1	1	UPI00000373C3	0	NA	ENST00000304141		ENSG00000168497	10690		21	1.7		HGNC	p.R48L		SDPR		SNV							ENST00000304141	protein_coding	getma.org/?cm=var&var=hg19,2,192711509,C,A&fts=all		hmmpanther:PTHR15240:SF1,hmmpanther:PTHR15240		R/L		A	low	473/3229		getma.org/?cm=msa&ty=f&p=SDPR_HUMAN&rb=2&re=422&var=R48L	deleterious(0.02)				YES	SDPR,missense_variant,p.Arg48Leu,ENST00000304141,NM_004657.5;AC098617.1,intron_variant,,ENST00000424116,;							MODERATE	143/1278	R48L	SDPR_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000305675		CCDS2313.1			1	
GPR75	0	LGGM	GRCh37	2	54081744	54081744	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	3	.	.	ENST00000394705.2:c.150G>T	p.Ala50=	p.A50=	ENST00000394705	NM_006794.3	50	gcG/gcT	0	1	1	UPI0000050454	0		ENST00000394705		ENSG00000119737	4526		22			HGNC	p.A50A		GPR75		SNV							ENST00000394705	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		A		421/2115							YES	GPR75,synonymous_variant,p.=,ENST00000394705,NM_006794.3;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;							LOW	150/1623		GPR75_HUMAN			Transcript			.	ENSP00000378195		CCDS1849.1			1	
CCDC57	0	LGGM	GRCh37	17	80141672	80141672	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	3	.	.	ENST00000392343.3:c.1189C>A	p.Arg397=	p.R397=	ENST00000392343		397	Cga/Aga	0	1		UPI000155D557	0		ENST00000389641		ENSG00000176155	27564		41			HGNC	p.R397R		CCDC57		SNV							ENST00000389641	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF1		R		T		1226/3000								CCDC57,synonymous_variant,p.=,ENST00000389641,;CCDC57,synonymous_variant,p.=,ENST00000392347,NM_198082.2;CCDC57,synonymous_variant,p.=,ENST00000392343,;CCDC57,non_coding_transcript_exon_variant,,ENST00000327026,;CCDC57,downstream_gene_variant,,ENST00000578910,;CCDC57,downstream_gene_variant,,ENST00000578187,;CCDC57,downstream_gene_variant,,ENST00000581625,;							LOW	1189/2751		CCD57_HUMAN			Transcript			.	ENSP00000374292					1	
NUP98	0	LGGM	GRCh37	11	3697753	3697753	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	3	.	.	ENST00000324932.7:c.5171G>T	p.Arg1724Leu	p.R1724L	ENST00000324932	NM_139132.3	1724	cGc/cTc	0	1		UPI00015DFF4D	0	NA	ENST00000359171		ENSG00000110713	8068		37	1.35		HGNC	p.R1650L		NUP98		SNV							ENST00000355260	protein_coding	getma.org/?cm=var&var=hg19,11,3697753,C,A&fts=all						A	low	5390/6770		getma.org/?cm=msa&ty=f&p=NUP98_HUMAN&rb=1629&re=1817&var=R1741L		Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,missense_variant,p.Arg1724Leu,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,missense_variant,p.Arg1650Leu,ENST00000355260,;NUP98,missense_variant,p.Arg677Leu,ENST00000429801,;NUP98,missense_variant,p.Arg78Leu,ENST00000533346,;NUP98,3_prime_UTR_variant,,ENST00000359171,;NUP98,non_coding_transcript_exon_variant,,ENST00000469881,;NUP98,non_coding_transcript_exon_variant,,ENST00000482690,;NUP98,downstream_gene_variant,,ENST00000524563,;							MODIFIER	-/4917	R1741L				Transcript			.	ENSP00000352091					1	
STIM1	0	LGGM	GRCh37	11	4104531	4104531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	3	.	.	ENST00000300737.4:c.1277G>T	p.Arg426Leu	p.R426L	ENST00000300737	NM_003156.3	426	cGc/cTc	0	1	1	UPI00000724B7	0	getma.org/pdb.php?prot=STIM1_HUMAN&from=398&to=597&var=R426L	ENST00000300737		ENSG00000167323	11386		20	2.415		HGNC	p.R253L		STIM1		SNV			1				ENST00000533977	protein_coding	getma.org/?cm=var&var=hg19,11,4104531,G,T&fts=all		hmmpanther:PTHR15136,hmmpanther:PTHR15136:SF9		R/L		T	medium	1846/4038		getma.org/?cm=msa&ty=f&p=STIM1_HUMAN&rb=398&re=597&var=R426L	deleterious(0)	E9PRZ7_HUMAN,E9PRE4_HUMAN,E9PR09_HUMAN,E9PR07_HUMAN,E9PNJ4_HUMAN,E9PMB4_HUMAN,E9PJ19_HUMAN,E9PIQ8_HUMAN			YES	STIM1,missense_variant,p.Arg426Leu,ENST00000300737,NM_003156.3,NM_001277961.1,NM_001277962.1;STIM1,missense_variant,p.Arg426Leu,ENST00000527651,;STIM1,missense_variant,p.Arg253Leu,ENST00000533977,;STIM1,missense_variant,p.Arg157Leu,ENST00000526596,;STIM1,downstream_gene_variant,,ENST00000533445,;STIM1,non_coding_transcript_exon_variant,,ENST00000533343,;STIM1,non_coding_transcript_exon_variant,,ENST00000531332,;STIM1,upstream_gene_variant,,ENST00000526156,;							MODERATE	1277/2058	R426L	STIM1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000300737		CCDS7749.1			1	
TTLL4	0	LGGM	GRCh37	2	219612903	219612903	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	3	.	.	ENST00000392102.1:c.2454C>A	p.Ala818=	p.A818=	ENST00000392102	NM_014640.4	818	gcC/gcA	0	1		UPI000013EDFF	0		ENST00000258398		ENSG00000135912	28976		31			HGNC	p.A818A		TTLL4		SNV							ENST00000258398	protein_coding			PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF9,Pfam_domain:PF03133		A		A		2557/4730				C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN				TTLL4,synonymous_variant,p.=,ENST00000392102,NM_014640.4;TTLL4,synonymous_variant,p.=,ENST00000258398,;TTLL4,synonymous_variant,p.=,ENST00000442769,;TTLL4,synonymous_variant,p.=,ENST00000457313,;TTLL4,intron_variant,,ENST00000448224,;TTLL4,upstream_gene_variant,,ENST00000436668,;TTLL4,upstream_gene_variant,,ENST00000417855,;TTLL4,3_prime_UTR_variant,,ENST00000417196,;TTLL4,3_prime_UTR_variant,,ENST00000434241,;TTLL4,non_coding_transcript_exon_variant,,ENST00000480929,;TTLL4,non_coding_transcript_exon_variant,,ENST00000465558,;TTLL4,non_coding_transcript_exon_variant,,ENST00000467841,;TTLL4,non_coding_transcript_exon_variant,,ENST00000494428,;TTLL4,non_coding_transcript_exon_variant,,ENST00000480472,;TTLL4,downstream_gene_variant,,ENST00000461181,;TTLL4,downstream_gene_variant,,ENST00000491899,;TTLL4,downstream_gene_variant,,ENST00000475950,;TTLL4,upstream_gene_variant,,ENST00000472527,;							LOW	2454/3600		TTLL4_HUMAN			Transcript			.	ENSP00000258398		CCDS2422.1			1	
KLHL35	0	LGGM	GRCh37	11	75134860	75134860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	3	.	.	ENST00000539798.1:c.1439G>T	p.Arg480Leu	p.R480L	ENST00000539798	NM_001039548.2	480	cGg/cTg	0	1	1	UPI0001B723C7	0	NA	ENST00000539798		ENSG00000149243	26597		38	2.23		HGNC	p.R260L	rs759212743	KLHL35		SNV							ENST00000376292	protein_coding	getma.org/?cm=var&var=hg19,11,75134860,C,A&fts=all		Superfamily_domains:0052715,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF187,SMART_domains:SM00612		R/L		A	medium	1439/1936	6.03E-05	getma.org/?cm=msa&ty=f&p=KLH35_HUMAN&rb=256&re=300&var=R260L	deleterious(0)	F5H412_HUMAN			YES	KLHL35,missense_variant,p.Arg480Leu,ENST00000539798,NM_001039548.2;KLHL35,missense_variant,p.Arg260Leu,ENST00000376292,;RPS3,downstream_gene_variant,,ENST00000527446,NM_001256802.1;KLHL35,non_coding_transcript_exon_variant,,ENST00000460787,;KLHL35,downstream_gene_variant,,ENST00000527491,;							MODERATE	1439/1752	R260L				Transcript		unknown(0)	.	ENSP00000438526	3.31E-05	CCDS44685.2			1	
ATF4	0	LGGM	GRCh37	22	39918453	39918453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	3	.	.	ENST00000337304.2:c.902C>A	p.Ala301Glu	p.A301E	ENST00000337304	NM_001675.2	301	gCg/gAg	0	1	1	UPI000000DABF	0	getma.org/pdb.php?prot=ATF4_HUMAN&from=276&to=339&var=A301E	ENST00000337304		ENSG00000128272	786		18	0.98		HGNC	p.A301E		ATF4		SNV							ENST00000337304	protein_coding	getma.org/?cm=var&var=hg19,22,39918453,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF57959,SMART_domains:SM00338,Gene3D:1.20.5.170,Pfam_domain:PF00170,hmmpanther:PTHR13044:SF2,hmmpanther:PTHR13044,PROSITE_profiles:PS50217		A/E		A	low	1784/2019		getma.org/?cm=msa&ty=f&p=ATF4_HUMAN&rb=276&re=339&var=A301E	deleterious(0.03)	Q96AQ3_HUMAN,B4DJD4_HUMAN			YES	ATF4,missense_variant,p.Ala301Glu,ENST00000337304,NM_001675.2;ATF4,missense_variant,p.Ala301Glu,ENST00000404241,;ATF4,missense_variant,p.Ala301Glu,ENST00000396680,NM_182810.1;MIEF1,downstream_gene_variant,,ENST00000325301,NM_019008.4;							MODERATE	902/1056	A301E	ATF4_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000336790		CCDS13996.1			1	
HOMER3	0	LGGM	GRCh37	19	19042432	19042432	+	missense_variant,splice_region_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	3	.	.	ENST00000596918.1:c.220G>T	p.Trp74Leu	p.W74L	ENST00000596918		74	tGg/tTg	0	1		UPI0000140C32	0		ENST00000392351		ENSG00000051128	17514		12			HGNC	p.V231V		HOMER3		SNV							ENST00000539827	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10918:SF4,hmmpanther:PTHR10918		V		A		924/1557				M0R2U7_HUMAN,M0R2T8_HUMAN,M0QZN1_HUMAN				HOMER3,splice_region_variant,p.=,ENST00000539827,;HOMER3,splice_region_variant,p.=,ENST00000542541,NM_001145722.1;HOMER3,splice_region_variant,p.=,ENST00000392351,NM_004838.3;HOMER3,splice_region_variant,p.=,ENST00000433218,NM_001145721.1;HOMER3,splice_region_variant,p.=,ENST00000221222,NM_001145724.1;HOMER3,splice_region_variant,p.=,ENST00000355887,;HOMER3,splice_region_variant,p.=,ENST00000594439,;HOMER3,splice_region_variant,p.=,ENST00000594794,;HOMER3,splice_region_variant,p.=,ENST00000596482,;DDX49,downstream_gene_variant,,ENST00000438170,;DDX49,downstream_gene_variant,,ENST00000247003,NM_019070.4;HOMER3,downstream_gene_variant,,ENST00000600077,;DDX49,downstream_gene_variant,,ENST00000599156,;AC002985.3,missense_variant,p.Trp74Leu,ENST00000596918,;AC002985.3,missense_variant,p.Trp74Leu,ENST00000593484,;HOMER3,splice_region_variant,,ENST00000595756,;DDX49,downstream_gene_variant,,ENST00000595858,;DDX49,downstream_gene_variant,,ENST00000602113,;DDX49,downstream_gene_variant,,ENST00000598277,;DDX49,downstream_gene_variant,,ENST00000596502,;							LOW	693/1086		HOME3_HUMAN			Transcript			.	ENSP00000376162		CCDS12391.1			1	
PIEZO2	0	LGGM	GRCh37	18	10677848	10677848	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	3	.	.	ENST00000503781.3:c.7638G>T	p.Ser2546=	p.S2546=	ENST00000503781	NM_022068.2	2546	tcG/tcT	0	1	1	UPI0001B3CB29	0		ENST00000503781		ENSG00000154864	26270		27			HGNC	p.S2571S		PIEZO2		SNV			1				ENST00000580640	protein_coding			hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24,Pfam_domain:PF12166		S		A		7638/8259				J3KSM7_HUMAN			YES	PIEZO2,synonymous_variant,p.=,ENST00000302079,;PIEZO2,synonymous_variant,p.=,ENST00000580640,;PIEZO2,synonymous_variant,p.=,ENST00000503781,NM_022068.2;PIEZO2,synonymous_variant,p.=,ENST00000538948,;PIEZO2,synonymous_variant,p.=,ENST00000285141,;PIEZO2,non_coding_transcript_exon_variant,,ENST00000581680,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;PIEZO2,non_coding_transcript_exon_variant,,ENST00000579151,;							LOW	7638/8259		PIEZ2_HUMAN			Transcript			.	ENSP00000421377					1	
NAV2	0	LGGM	GRCh37	11	20112541	20112541	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000396087.3:c.5806C>T	p.Arg1936Trp	p.R1936W	ENST00000396087	NM_001244963.1	1936	Cgg/Tgg	0	1	1	UPI00001E0580	0	NA	ENST00000396087		ENSG00000166833	15997		19	2.05		HGNC	p.R1813W	rs772740145	NAV2	6.07E-05	SNV							ENST00000360655	protein_coding	getma.org/?cm=var&var=hg19,11,20112541,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		R/W		T	medium	5905/7882		getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=731&re=2028&var=R1936W	deleterious(0)				YES	NAV2,missense_variant,p.Arg1880Trp,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Arg1877Trp,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Arg1813Trp,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Arg1867Trp,ENST00000540292,;NAV2,missense_variant,p.Arg1865Trp,ENST00000527559,;NAV2,missense_variant,p.Arg1936Trp,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Arg941Trp,ENST00000311043,;NAV2,missense_variant,p.Arg941Trp,ENST00000533917,NM_001111019.2;							MODERATE	5806/7467	R1936W	NAV2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000379396	8.24E-06	CCDS58126.1			1	
CSF1R	0	LGGM	GRCh37	5	149435592	149435592	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	3	.	.	ENST00000286301.3:c.2551C>A	p.Leu851Ile	p.L851I	ENST00000286301	NM_005211.3	851	Ctt/Att	0	1	1	UPI000004984A	0	getma.org/pdb.php?prot=CSF1R_HUMAN&from=582&to=910&var=L851I	ENST00000286301		ENSG00000182578	2433		14	1.63		HGNC	p.L851I		CSF1R		SNV			1				ENST00000286301	protein_coding	getma.org/?cm=var&var=hg19,5,149435592,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF56112		L/I		T	low	2843/3989		getma.org/?cm=msa&ty=f&p=CSF1R_HUMAN&rb=582&re=910&var=L851I	deleterious(0)	Q6LEI2_HUMAN,D6RGW1_HUMAN			YES	CSF1R,missense_variant,p.Leu851Ile,ENST00000286301,NM_005211.3,NM_001288705.1;HMGXB3,downstream_gene_variant,,ENST00000503427,;HMGXB3,downstream_gene_variant,,ENST00000502717,NM_014983.2;CSF1R,downstream_gene_variant,,ENST00000515239,;CSF1R,3_prime_UTR_variant,,ENST00000504875,;CSF1R,3_prime_UTR_variant,,ENST00000515068,;CSF1R,upstream_gene_variant,,ENST00000509861,;CSF1R,downstream_gene_variant,,ENST00000513609,;							MODERATE	2551/2919	L851I	CSF1R_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000286301		CCDS4302.1			1	
TINF2	0	LGGM	GRCh37	14	24711493	24711493	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	3	.	.	ENST00000267415.7:c.46G>T	p.Ala16Ser	p.A16S	ENST00000267415	NM_001099274.1	16	Gcc/Tcc	0	1	1	UPI0000136FAB	0	NA	ENST00000267415		ENSG00000092330	11824		11	1.3		HGNC	p.A16S		TINF2		SNV			1				ENST00000540705	protein_coding	getma.org/?cm=var&var=hg19,14,24711493,C,A&fts=all		hmmpanther:PTHR15512,hmmpanther:PTHR15512:SF0,Low_complexity_(Seg):seg		A/S		A	low	388/1852		getma.org/?cm=msa&ty=f&p=TINF2_HUMAN&rb=1&re=430&var=A16S	tolerated(0.34)	Q86TZ8_HUMAN,H0YKA6_HUMAN,B3W5Q7_HUMAN			YES	TINF2,missense_variant,p.Ala16Ser,ENST00000399423,NM_012461.2;TINF2,missense_variant,p.Ala16Ser,ENST00000558566,;TINF2,missense_variant,p.Ala16Ser,ENST00000267415,NM_001099274.1;TINF2,missense_variant,p.Ala16Ser,ENST00000540705,;TINF2,missense_variant,p.Ala2Ser,ENST00000559969,;TINF2,missense_variant,p.Ala16Ser,ENST00000559019,;TINF2,missense_variant,p.Ala16Ser,ENST00000557921,;TINF2,5_prime_UTR_variant,,ENST00000538777,;TINF2,intron_variant,,ENST00000558476,;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;GMPR2,downstream_gene_variant,,ENST00000561035,;GMPR2,downstream_gene_variant,,ENST00000558483,;GMPR2,downstream_gene_variant,,ENST00000558865,;GMPR2,downstream_gene_variant,,ENST00000558748,;TINF2,upstream_gene_variant,,ENST00000560019,;GMPR2,downstream_gene_variant,,ENST00000559479,;GMPR2,downstream_gene_variant,,ENST00000558788,;GMPR2,downstream_gene_variant,,ENST00000559943,;GMPR2,downstream_gene_variant,,ENST00000558932,;TINF2,non_coding_transcript_exon_variant,,ENST00000558510,;GMPR2,downstream_gene_variant,,ENST00000560517,;TINF2,non_coding_transcript_exon_variant,,ENST00000559147,;GMPR2,downstream_gene_variant,,ENST00000561038,NM_001283021.1;GMPR2,downstream_gene_variant,,ENST00000559287,;GMPR2,downstream_gene_variant,,ENST00000561130,;TINF2,upstream_gene_variant,,ENST00000559549,;TINF2,upstream_gene_variant,,ENST00000557830,;TINF2,upstream_gene_variant,,ENST00000557915,;GMPR2,downstream_gene_variant,,ENST00000558007,;TINF2,upstream_gene_variant,,ENST00000558703,;							MODERATE	46/1356	A16S	TINF2_HUMAN			Transcript		possibly_damaging(0.709)	.	ENSP00000267415		CCDS41936.1			1	
FPR3	0	LGGM	GRCh37	19	52327737	52327737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	3	.	.	ENST00000339223.4:c.736G>T	p.Val246Leu	p.V246L	ENST00000339223	NM_002030.3	246	Gtg/Ttg	0	1	1	UPI000011DFC1	0	getma.org/pdb.php?prot=FPR3_HUMAN&from=43&to=302&var=V246L	ENST00000339223		ENSG00000187474	3828		38	2		HGNC	p.V246L		FPR3		SNV							ENST00000339223	protein_coding	getma.org/?cm=var&var=hg19,19,52327737,G,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,PROSITE_profiles:PS50262		V/L		T	medium	915/2620		getma.org/?cm=msa&ty=f&p=FPR3_HUMAN&rb=43&re=302&var=V246L	deleterious(0.02)	Q6L5J4_HUMAN			YES	FPR3,missense_variant,p.Val246Leu,ENST00000339223,NM_002030.3;FPR3,missense_variant,p.Val246Leu,ENST00000595991,;							MODERATE	736/1062	V246L	FPR3_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000341821		CCDS12841.1			1	
H6PD	0	LGGM	GRCh37	1	9305394	9305394	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	3	.	.	ENST00000377403.2:c.401G>T	p.Arg134Leu	p.R134L	ENST00000377403	NM_004285.3	134	cGg/cTg	0	1	1	UPI000013C9AD	0	getma.org/pdb.php?prot=G6PE_HUMAN&from=29&to=213&var=R134L	ENST00000377403		ENSG00000049239	4795		30	0.675		HGNC	p.R134L		H6PD		SNV			1				ENST00000377403	protein_coding	getma.org/?cm=var&var=hg19,1,9305394,G,T&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF00479,hmmpanther:PTHR23429,hmmpanther:PTHR23429:SF2,Superfamily_domains:SSF51735		R/L		T	neutral	703/9146		getma.org/?cm=msa&ty=f&p=G6PE_HUMAN&rb=29&re=213&var=R134L	tolerated(0.75)				YES	H6PD,missense_variant,p.Arg134Leu,ENST00000377403,NM_004285.3,NM_001282587.1;H6PD,missense_variant,p.Arg145Leu,ENST00000602477,;							MODERATE	401/2376	R134L	G6PE_HUMAN			Transcript		benign(0.03)	.	ENSP00000366620		CCDS101.1			1	
PTPRE	0	LGGM	GRCh37	10	129866413	129866413	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	3	.	.	ENST00000254667.3:c.870C>A	p.Pro290=	p.P290=	ENST00000254667	NM_006504.4	290	ccC/ccA	0	1	1	UPI0000132991	0		ENST00000254667		ENSG00000132334	9669		10			HGNC	p.P290P		PTPRE		SNV							ENST00000254667	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF49,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,SMART_domains:SM00194,Superfamily_domains:SSF52799		P		A		1149/5331				Q96P81_HUMAN,Q69YS2_HUMAN,Q5VWH6_HUMAN,Q5VWH5_HUMAN			YES	PTPRE,synonymous_variant,p.=,ENST00000254667,NM_006504.4;PTPRE,synonymous_variant,p.=,ENST00000306042,NM_130435.3;PTPRE,synonymous_variant,p.=,ENST00000419012,;PTPRE,3_prime_UTR_variant,,ENST00000430713,;PTPRE,synonymous_variant,p.=,ENST00000479896,;PTPRE,3_prime_UTR_variant,,ENST00000495530,;PTPRE,non_coding_transcript_exon_variant,,ENST00000492479,;PTPRE,upstream_gene_variant,,ENST00000463727,;							LOW	870/2103		PTPRE_HUMAN			Transcript			.	ENSP00000254667		CCDS7657.1			1	
GRIK1	0	LGGM	GRCh37	21	30949317	30949317	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	3	.	.	ENST00000399907.1:c.2097G>T	p.Ala699=	p.A699=	ENST00000399907	NM_000830.3	699	gcG/gcT	0	1	1	UPI000012B612	0		ENST00000399907		ENSG00000171189	4579		39			HGNC	p.A699A		GRIK1		SNV							ENST00000389124	protein_coding			Superfamily_domains:SSF53850,SMART_domains:SM00079,Gene3D:1.10.287.70,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36		A		A		2509/3472				Q9UNN1_HUMAN,Q71UA3_HUMAN			YES	GRIK1,synonymous_variant,p.=,ENST00000399914,;GRIK1,synonymous_variant,p.=,ENST00000399907,NM_000830.3;GRIK1,synonymous_variant,p.=,ENST00000399909,;GRIK1,synonymous_variant,p.=,ENST00000399913,;GRIK1,synonymous_variant,p.=,ENST00000327783,;GRIK1,synonymous_variant,p.=,ENST00000389125,NM_175611.2;GRIK1,synonymous_variant,p.=,ENST00000535441,;GRIK1,synonymous_variant,p.=,ENST00000309434,;GRIK1,synonymous_variant,p.=,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;							LOW	2097/2757		GRIK1_HUMAN			Transcript			.	ENSP00000382791		CCDS42913.1			1	
ANK1	0	LGGM	GRCh37	8	41542071	41542071	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	3	.	.	ENST00000265709.8:c.4651C>A	p.Gln1551Lys	p.Q1551K	ENST00000265709	NM_001142446.1	1551	Cag/Aag	0	1		UPI000013DF99	0	NA	ENST00000347528		ENSG00000029534	492		13	1.1		HGNC	p.Q1510K		ANK1		SNV			1				ENST00000352337	protein_coding	getma.org/?cm=var&var=hg19,8,41542071,G,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11		Q/K		T	low	4612/8237		getma.org/?cm=msa&ty=f&p=ANK1_HUMAN&rb=1488&re=1687&var=Q1510K	tolerated(0.11)	Q9UMG4_HUMAN				ANK1,missense_variant,p.Gln1510Lys,ENST00000396942,;ANK1,missense_variant,p.Gln1510Lys,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Gln1510Lys,ENST00000347528,NM_020477.2,NM_020476.2,NM_020475.2;ANK1,missense_variant,p.Gln1510Lys,ENST00000352337,;ANK1,missense_variant,p.Gln1510Lys,ENST00000379758,;ANK1,missense_variant,p.Gln1510Lys,ENST00000396945,;ANK1,missense_variant,p.Gln1551Lys,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Gln832Lys,ENST00000520299,;ANK1,missense_variant,p.Gln162Lys,ENST00000518061,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;							MODERATE	4528/5646	Q1510K	ANK1_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000339620		CCDS6119.1			1	
TEP1	0	LGGM	GRCh37	14	20846679	20846679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	3	.	.	ENST00000262715.5:c.5368C>A	p.Arg1790Ser	p.R1790S	ENST00000262715	NM_007110.4	1790	Cgt/Agt	0	1	1	UPI000013D30B	0	getma.org/pdb.php?prot=TEP1_HUMAN&from=1788&to=1798&var=R1790S	ENST00000262715		ENSG00000129566	11726		16	0.035		HGNC	p.R1133S		TEP1		SNV							ENST00000555008	protein_coding	getma.org/?cm=var&var=hg19,14,20846679,G,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294		R/S		T	neutral	5409/10695		getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=1758&re=1828&var=R1790S	tolerated(0.11)	G3V591_HUMAN			YES	TEP1,missense_variant,p.Arg1790Ser,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Arg1682Ser,ENST00000556935,;TEP1,missense_variant,p.Arg128Ser,ENST00000545983,;TEP1,missense_variant,p.Arg1133Ser,ENST00000555008,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,upstream_gene_variant,,ENST00000556488,;TEP1,upstream_gene_variant,,ENST00000471684,;							MODERATE	5368/7884	R1790S	TEP1_HUMAN			Transcript		benign(0.013)	.	ENSP00000262715		CCDS9548.1			1	
CLMN	0	LGGM	GRCh37	14	95670555	95670555	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	3	.	.	ENST00000298912.4:c.1131C>A	p.Thr377=	p.T377=	ENST00000298912	NM_024734.3	377	acC/acA	0	1	1	UPI000006DB99	0		ENST00000298912		ENSG00000165959	19972		19			HGNC	p.T377T		CLMN		SNV							ENST00000298912	protein_coding			hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915		T		T		1245/12747				G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN			YES	CLMN,synonymous_variant,p.=,ENST00000298912,NM_024734.3;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;							LOW	1131/3009		CLMN_HUMAN			Transcript			.	ENSP00000298912		CCDS9933.1			1	
SLC12A4	0	LGGM	GRCh37	16	67991811	67991811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	3	.	.	ENST00000422611.2:c.485G>T	p.Cys162Phe	p.C162F	ENST00000422611	NM_001145962.1	162	tGc/tTc	0	1		UPI0000135421	0	NA	ENST00000316341		ENSG00000124067	10913		16	3.565		HGNC	p.C112F		SLC12A4		SNV							ENST00000572037	protein_coding	getma.org/?cm=var&var=hg19,16,67991811,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00930,Pfam_domain:PF00324,hmmpanther:PTHR11827:SF46,hmmpanther:PTHR11827		C/F		A	high	620/3911		getma.org/?cm=msa&ty=f&p=S12A4_HUMAN&rb=123&re=308&var=C160F	deleterious(0)	J3QRE2_HUMAN				SLC12A4,missense_variant,p.Cys162Phe,ENST00000422611,NM_001145962.1;SLC12A4,missense_variant,p.Cys160Phe,ENST00000316341,NM_001145961.1,NM_005072.4;SLC12A4,missense_variant,p.Cys160Phe,ENST00000576616,;SLC12A4,missense_variant,p.Cys160Phe,ENST00000338335,;SLC12A4,missense_variant,p.Cys129Phe,ENST00000541864,NM_001145964.1;SLC12A4,missense_variant,p.Cys112Phe,ENST00000572037,;SLC12A4,missense_variant,p.Cys154Phe,ENST00000537830,NM_001145963.1;SLC12A4,missense_variant,p.Cys43Phe,ENST00000571299,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000572010,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000570802,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000573023,;SLC12A4,non_coding_transcript_exon_variant,,ENST00000576462,;SLC12A4,intron_variant,,ENST00000576377,;							MODERATE	479/3258	C160F	S12A4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318557		CCDS10855.1			1	
DLG5	0	LGGM	GRCh37	10	79565492	79565492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	3	.	.	ENST00000372391.2:c.5095G>T	p.Gly1699Trp	p.G1699W	ENST00000372391	NM_004747.3	1699	Ggg/Tgg	0	1	1	UPI0000470041	0	getma.org/pdb.php?prot=DLG5_HUMAN&from=1580&to=1771&var=G1699W	ENST00000372391		ENSG00000151208	2904		33	1.67		HGNC	p.G660W		DLG5		SNV							ENST00000424842	protein_coding	getma.org/?cm=var&var=hg19,10,79565492,C,A&fts=all		hmmpanther:PTHR13865,Low_complexity_(Seg):seg		G/W		A	low	5101/7415		getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=1580&re=1771&var=G1699W	deleterious(0)				YES	DLG5,missense_variant,p.Gly1699Trp,ENST00000372391,NM_004747.3;DLG5,missense_variant,p.Gly1359Trp,ENST00000372388,;DLG5,missense_variant,p.Gly660Trp,ENST00000424842,;DLG5,non_coding_transcript_exon_variant,,ENST00000459739,;DLG5,downstream_gene_variant,,ENST00000489547,;DLG5,downstream_gene_variant,,ENST00000484525,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;DLG5,non_coding_transcript_exon_variant,,ENST00000463362,;							MODERATE	5095/5760	G1699W	DLG5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000361467		CCDS7353.2			1	
POTEH	0	LGGM	GRCh37	22	16269941	16269941	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	3	.	.	ENST00000343518.6:c.1240C>G	p.Gln414Glu	p.Q414E	ENST00000343518	NM_001136213.1	414	Caa/Gaa	0	1	1	UPI0000E5A425	0	NA	ENST00000343518		ENSG00000198062	133	0.0232	15	0.975		HGNC	p.Q414E	rs780756701	POTEH	0.0107	SNV				0.00143			ENST00000343518	protein_coding	getma.org/?cm=var&var=hg19,22,16269941,G,C&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		Q/E		C	low	1292/1928	0.00459	getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=405&re=451&var=Q414E	tolerated(0.11)				YES	POTEH,missense_variant,p.Gln414Glu,ENST00000343518,NM_001136213.1;POTEH-AS1,upstream_gene_variant,,ENST00000422014,;POTEH,splice_region_variant,,ENST00000452800,;	0.00575						MODERATE	1240/1638	Q414E	POTEH_HUMAN	0.00094		Transcript		benign(0.021)	common_variant	ENSP00000340610	0.00155	CCDS46658.1			1	
PLAC8L1	0	LGGM	GRCh37	5	145477814	145477814	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	4	.	.	ENST00000311450.4:c.161G>T	p.Arg54Leu	p.R54L	ENST00000311450	NM_001029869.1	54	cGg/cTg	0	1	1	UPI000015FDFA	0	NA	ENST00000311450		ENSG00000173261	31746		48	1.04		HGNC	p.R54L		PLAC8L1		SNV							ENST00000512998	protein_coding	getma.org/?cm=var&var=hg19,5,145477814,C,A&fts=all		hmmpanther:PTHR15907:SF38,hmmpanther:PTHR15907		R/L		A	low	219/638		getma.org/?cm=msa&ty=f&p=PL8L1_HUMAN&rb=1&re=71&var=R54L	tolerated(0.49)				YES	PLAC8L1,missense_variant,p.Arg54Leu,ENST00000311450,NM_001029869.1;RP11-118M9.3,upstream_gene_variant,,ENST00000514002,;PLAC8L1,missense_variant,p.Arg54Leu,ENST00000512998,;							MODERATE	161/534	R54L	PL8L1_HUMAN			Transcript		benign(0.081)	.	ENSP00000309087		CCDS34264.1			1	
NID1	0	LGGM	GRCh37	1	236201530	236201530	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000264187.6:c.1159C>A	p.Arg387Ser	p.R387S	ENST00000264187	NM_002508.2	387	Cgc/Agc	0	1	1	UPI000013D4D9	0	NA	ENST00000264187		ENSG00000116962	7821		45	1.975		HGNC	p.R387S	COSM1501706	NID1		SNV						1	ENST00000366595	protein_coding	getma.org/?cm=var&var=hg19,1,236201530,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,SMART_domains:SM00179,Superfamily_domains:SSF57184		R/S		T	medium	1242/5864		getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=386&re=426&var=R387S	tolerated(0.09)				YES	NID1,missense_variant,p.Arg387Ser,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Arg387Ser,ENST00000366595,;					1		MODERATE	1159/3744	R387S	NID1_HUMAN			Transcript		benign(0.012)	.	ENSP00000264187		CCDS1608.1			1	
PTPRT	0	LGGM	GRCh37	20	40743838	40743838	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000373198.4:c.3156+1G>T		p.X1052_splice	ENST00000373198	NM_133170.3			0	1	1	UPI0000246C03	0		ENST00000373187		ENSG00000196090	9682		36			HGNC	-		PTPRT		SNV							ENST00000373201	protein_coding							A		-/12453							YES	PTPRT,splice_donor_variant,,ENST00000373198,NM_133170.3;PTPRT,splice_donor_variant,,ENST00000373201,;PTPRT,splice_donor_variant,,ENST00000373193,NM_007050.5;PTPRT,splice_donor_variant,,ENST00000373190,;PTPRT,splice_donor_variant,,ENST00000373184,;PTPRT,splice_donor_variant,,ENST00000356100,;PTPRT,splice_donor_variant,,ENST00000373187,;							HIGH	3099/4326		PTPRT_HUMAN			Transcript			.	ENSP00000362283		CCDS42874.1			1	
PTPRR	0	LGGM	GRCh37	12	71158444	71158444	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000283228.2:c.471+1G>A		p.X157_splice	ENST00000283228	NM_002849.3			0	1	1	UPI000013DD2F	0		ENST00000283228		ENSG00000153233	9680		35			HGNC	-		PTPRR		SNV							ENST00000283228	protein_coding							T		-/3529				Q68CP6_HUMAN,F8VVE9_HUMAN			YES	PTPRR,splice_donor_variant,,ENST00000283228,NM_002849.3;PTPRR,splice_donor_variant,,ENST00000342084,NM_001207015.1;							HIGH	471/1974		PTPRR_HUMAN			Transcript			.	ENSP00000283228		CCDS8998.1			1	
GLG1	0	LGGM	GRCh37	16	74491893	74491893	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000205061.5:c.3145-1G>T		p.X1049_splice	ENST00000205061	NM_012201.5			0	1		UPI000013C652	0		ENST00000422840		ENSG00000090863	4316		47			HGNC	-		GLG1		SNV							ENST00000205061	protein_coding							A		-/4748				Q6ZMF1_HUMAN,H3BQT1_HUMAN				GLG1,splice_acceptor_variant,,ENST00000422840,NM_001145667.1;GLG1,splice_acceptor_variant,,ENST00000205061,NM_012201.5;GLG1,splice_acceptor_variant,,ENST00000447066,NM_001145666.1;RNU6-237P,downstream_gene_variant,,ENST00000515985,;GLG1,splice_acceptor_variant,,ENST00000562090,;GLG1,splice_acceptor_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561942,;GLG1,downstream_gene_variant,,ENST00000561481,;GLG1,downstream_gene_variant,,ENST00000563646,;							HIGH	3145/3540		GSLG1_HUMAN			Transcript			.	ENSP00000405984		CCDS45527.1			1	
TRHDE	0	LGGM	GRCh37	12	72955944	72955944	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000261180.4:c.1654-1G>T		p.X552_splice	ENST00000261180	NM_013381.2			0	1	1	UPI0000136D52	0		ENST00000261180		ENSG00000072657	30748		42			HGNC	-		TRHDE		SNV							ENST00000261180	protein_coding							T		-/5618							YES	TRHDE,splice_acceptor_variant,,ENST00000261180,NM_013381.2;TRHDE,splice_acceptor_variant,,ENST00000547300,;TRHDE,splice_acceptor_variant,,ENST00000549138,;TRHDE,upstream_gene_variant,,ENST00000549401,;							HIGH	1654/3075		TRHDE_HUMAN			Transcript			.	ENSP00000261180		CCDS9004.1			1	
PSME3	0	LGGM	GRCh37	17	40993514	40993514	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000293362.3:c.724-1G>T		p.X242_splice	ENST00000293362	NM_176863.2			0	1		UPI0000001957	0		ENST00000590720		ENSG00000131467	9570		31			HGNC	-		PSME3		SNV							ENST00000545225	protein_coding							T		-/998				K9J957_HUMAN,K7EPX6_HUMAN,K7EMD0_HUMAN,K7EKR3_HUMAN,B3KQ25_HUMAN				PSME3,splice_acceptor_variant,,ENST00000293362,NM_176863.2,NM_005789.3;PSME3,splice_acceptor_variant,,ENST00000545225,;PSME3,splice_acceptor_variant,,ENST00000441946,;PSME3,splice_acceptor_variant,,ENST00000541124,NM_001267045.1;PSME3,splice_acceptor_variant,,ENST00000590720,;PSME3,splice_acceptor_variant,,ENST00000592169,;AOC2,upstream_gene_variant,,ENST00000253799,NM_009590.2;AOC2,upstream_gene_variant,,ENST00000452774,NM_001158.3;PSME3,downstream_gene_variant,,ENST00000585805,;PSME3,downstream_gene_variant,,ENST00000591152,;PSME3,downstream_gene_variant,,ENST00000589469,;PSME3,downstream_gene_variant,,ENST00000586114,;PSME3,splice_acceptor_variant,,ENST00000543428,;PSME3,downstream_gene_variant,,ENST00000586312,;PSME3,downstream_gene_variant,,ENST00000593111,;PSME3,downstream_gene_variant,,ENST00000591722,;							HIGH	685/765		PSME3_HUMAN			Transcript			.	ENSP00000466794		CCDS45689.1			1	
IGFN1	0	LGGM	GRCh37	1	201164966	201164966	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000335211.4:c.128-1G>T		p.X43_splice	ENST00000335211	NM_001164586.1			0	1		UPI0000D62077	0		ENST00000295591		ENSG00000163395	24607		45			HGNC	-		IGFN1		SNV							ENST00000451870	protein_coding							T		-/11614				B7WP51_HUMAN				IGFN1,splice_acceptor_variant,,ENST00000335211,NM_001164586.1;IGFN1,splice_acceptor_variant,,ENST00000295591,;IGFN1,splice_acceptor_variant,,ENST00000451870,;IGFN1,splice_acceptor_variant,,ENST00000437879,;							HIGH	-/1827					Transcript			.	ENSP00000295591					1	
NLRP2	0	LGGM	GRCh37	19	55489119	55489119	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000543010.1:c.326-1G>T		p.X109_splice	ENST00000543010	NM_001174081.1			0	1		UPI000004C0CC	0		ENST00000448584		ENSG00000022556	22948		44			HGNC	-		NLRP2		SNV							ENST00000588619	protein_coding							T		-/3573				K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN				NLRP2,splice_acceptor_variant,,ENST00000543010,NM_001174081.1;NLRP2,splice_acceptor_variant,,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,splice_acceptor_variant,,ENST00000537859,NM_001174082.1;NLRP2,splice_acceptor_variant,,ENST00000263437,;NLRP2,splice_acceptor_variant,,ENST00000339757,;NLRP2,splice_acceptor_variant,,ENST00000427260,;NLRP2,splice_acceptor_variant,,ENST00000588619,;NLRP2,splice_acceptor_variant,,ENST00000588107,;NLRP2,splice_acceptor_variant,,ENST00000585500,;NLRP2,splice_acceptor_variant,,ENST00000397169,;NLRP2,splice_acceptor_variant,,ENST00000433772,;NLRP2,intron_variant,,ENST00000538819,;NLRP2,intron_variant,,ENST00000391721,;NLRP2,splice_acceptor_variant,,ENST00000540597,;NLRP2,splice_acceptor_variant,,ENST00000539848,;CTC-550B14.1,downstream_gene_variant,,ENST00000466725,;							HIGH	326/3189		NALP2_HUMAN			Transcript			.	ENSP00000409370		CCDS12913.1			1	
MON1A	0	LGGM	GRCh37	3	49949307	49949307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000296473.3:c.556C>A	p.Gln186Lys	p.Q186K	ENST00000296473	NM_032355.3	186	Cag/Aag	0	1	1	UPI0000EE2989	0	NA	ENST00000296473		ENSG00000164077	28207		31	1.7		HGNC	p.Q97K		MON1A		SNV							ENST00000417270	protein_coding	getma.org/?cm=var&var=hg19,3,49949307,G,T&fts=all		hmmpanther:PTHR13027,hmmpanther:PTHR13027:SF14		Q/K		T	low	815/2363		getma.org/?cm=msa&ty=f&p=MON1A_HUMAN&rb=1&re=144&var=Q89K	tolerated(0.15)				YES	MON1A,missense_variant,p.Gln97Lys,ENST00000417270,;MON1A,missense_variant,p.Gln186Lys,ENST00000296473,NM_032355.3;MON1A,intron_variant,,ENST00000455683,NM_001142501.1;CTD-2330K9.3,intron_variant,,ENST00000419183,;MON1A,non_coding_transcript_exon_variant,,ENST00000483022,;MON1A,non_coding_transcript_exon_variant,,ENST00000484985,;MON1A,non_coding_transcript_exon_variant,,ENST00000493206,;MON1A,intron_variant,,ENST00000486107,;MON1A,downstream_gene_variant,,ENST00000473451,;							MODERATE	556/1959	Q89K				Transcript		benign(0.09)	.	ENSP00000296473		CCDS2808.2			1	
ADAP1	0	LGGM	GRCh37	7	943808	943808	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	4	.	.	ENST00000265846.5:c.603G>T	p.Lys201Asn	p.K201N	ENST00000265846	NM_006869.2	201	aaG/aaT	0	1	1	UPI000013D694	0	getma.org/pdb.php?prot=ADAP1_HUMAN&from=129&to=230&var=K201N	ENST00000265846		ENSG00000105963	16486		21	2.22		HGNC	p.K34N		ADAP1		SNV							ENST00000453175	protein_coding	getma.org/?cm=var&var=hg19,7,943808,C,A&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF219,PROSITE_profiles:PS50003		K/N		A	medium	823/2363		getma.org/?cm=msa&ty=f&p=ADAP1_HUMAN&rb=129&re=230&var=K201N	deleterious(0.05)	H7C2Q4_HUMAN			YES	ADAP1,missense_variant,p.Lys201Asn,ENST00000265846,NM_006869.2,NM_001284311.1;ADAP1,missense_variant,p.Lys184Asn,ENST00000446141,;ADAP1,missense_variant,p.Lys129Asn,ENST00000449296,NM_001284309.1,NM_001284310.1;ADAP1,missense_variant,p.Lys212Asn,ENST00000539900,NM_001284308.1;ADAP1,missense_variant,p.Lys40Asn,ENST00000453175,;ADAP1,missense_variant,p.Lys135Asn,ENST00000437486,;ADAP1,missense_variant,p.Lys142Asn,ENST00000454383,;ADAP1,missense_variant,p.Lys144Asn,ENST00000453823,;ADAP1,downstream_gene_variant,,ENST00000435943,;ADAP1,non_coding_transcript_exon_variant,,ENST00000463358,;ADAP1,downstream_gene_variant,,ENST00000488527,;ADAP1,downstream_gene_variant,,ENST00000477906,;COX19,3_prime_UTR_variant,,ENST00000457254,;ADAP1,non_coding_transcript_exon_variant,,ENST00000478000,;ADAP1,non_coding_transcript_exon_variant,,ENST00000481406,;ADAP1,upstream_gene_variant,,ENST00000495809,;							MODERATE	603/1125	K201N	ADAP1_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000265846		CCDS5318.1			1	
VPS16	0	LGGM	GRCh37	20	2841503	2841503	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000380445.3:c.624C>A	p.Ser208=	p.S208=	ENST00000380445	NM_022575.2	208	tcC/tcA	0	1	1	UPI0000138B87	0		ENST00000380445		ENSG00000215305	14584		32			HGNC	p.S208S		VPS16		SNV							ENST00000380445	protein_coding			hmmpanther:PTHR12811,hmmpanther:PTHR12811:SF0,Pfam_domain:PF04841,PIRSF_domain:PIRSF007949		S		A		696/2750				A1A4H0_HUMAN			YES	VPS16,synonymous_variant,p.=,ENST00000380445,NM_022575.2;VPS16,synonymous_variant,p.=,ENST00000380469,NM_080413.1;VPS16,synonymous_variant,p.=,ENST00000453689,;VPS16,synonymous_variant,p.=,ENST00000417508,;PTPRA,upstream_gene_variant,,ENST00000380393,NM_002836.3;VPS16,upstream_gene_variant,,ENST00000380443,;VPS16,upstream_gene_variant,,ENST00000481812,;VPS16,upstream_gene_variant,,ENST00000487461,;							LOW	624/2520		VPS16_HUMAN			Transcript			.	ENSP00000369810		CCDS13036.1			1	
OLIG3	0	LGGM	GRCh37	6	137814936	137814936	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000367734.2:c.372C>A	p.Ile124=	p.I124=	ENST00000367734	NM_175747.2	124	atC/atA	0	1	1	UPI000006F9D6	0		ENST00000367734		ENSG00000177468	18003		26			HGNC	p.I124I		OLIG3		SNV							ENST00000367734	protein_coding			PROSITE_profiles:PS50888,hmmpanther:PTHR19290:SF89,hmmpanther:PTHR19290,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459		I		T		596/2196							YES	OLIG3,synonymous_variant,p.=,ENST00000367734,NM_175747.2;							LOW	372/819		OLIG3_HUMAN			Transcript			.	ENSP00000356708		CCDS5186.1			1	
LLGL1	0	LGGM	GRCh37	17	18133281	18133281	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	4	.	.	ENST00000316843.4:c.108G>T	p.Gln36His	p.Q36H	ENST00000316843	NM_004140.3	36	caG/caT	0	1	1	UPI000049DE38	0	getma.org/pdb.php?prot=L2GL1_HUMAN&from=1&to=200&var=Q36H	ENST00000316843		ENSG00000131899	6628		13	1.565		HGNC	p.Q36H		LLGL1		SNV							ENST00000316843	protein_coding	getma.org/?cm=var&var=hg19,17,18133281,G,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF21,SMART_domains:SM00320,Superfamily_domains:SSF50978		Q/H		T	low	204/4260		getma.org/?cm=msa&ty=f&p=L2GL1_HUMAN&rb=1&re=200&var=Q36H	tolerated(0.07)	A0PJG1_HUMAN			YES	LLGL1,missense_variant,p.Gln36His,ENST00000316843,NM_004140.3;LLGL1,upstream_gene_variant,,ENST00000479155,;							MODERATE	108/3195	Q36H	L2GL1_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000321537		CCDS32586.1			1	
CUX1	0	LGGM	GRCh37	7	101877346	101877346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000360264.3:c.3481G>T	p.Gly1161Trp	p.G1161W	ENST00000360264	NM_001202543.1	1161	Ggg/Tgg	0	1		UPI0000246CDF	0	getma.org/pdb.php?prot=CUX1_HUMAN&from=1118&to=1205&var=G1150W	ENST00000292535		ENSG00000257923	2557		32	2.69		HGNC	p.G1048W		CUX1		SNV							ENST00000546411	protein_coding	getma.org/?cm=var&var=hg19,7,101877346,G,T&fts=all		PROSITE_profiles:PS51042,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4,Gene3D:1.10.260.40,Pfam_domain:PF02376,Superfamily_domains:SSF47413		G/W		T	medium	3486/13747		getma.org/?cm=msa&ty=f&p=CUX1_HUMAN&rb=1118&re=1205&var=G1150W	deleterious(0)					CUX1,missense_variant,p.Gly1161Trp,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Gly1150Trp,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Gly1128Trp,ENST00000549414,;CUX1,missense_variant,p.Gly1094Trp,ENST00000550008,;CUX1,missense_variant,p.Gly1048Trp,ENST00000546411,;CUX1,missense_variant,p.Gly992Trp,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;AC005088.1,downstream_gene_variant,,ENST00000580604,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;							MODERATE	3448/4518	G1150W	CUX1_HUMAN			Transcript		unknown(0)	.	ENSP00000292535		CCDS5721.1			1	
PHKB	0	LGGM	GRCh37	16	47733261	47733261	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	4	.	.	ENST00000323584.5:c.3266C>A	p.Pro1089Gln	p.P1089Q	ENST00000323584	NM_000293.2	1089	cCg/cAg	0	1	1	UPI0000141140	0	NA	ENST00000323584		ENSG00000102893	8927		55	1.935		HGNC	p.P1082Q		PHKB		SNV			1				ENST00000455779	protein_coding	getma.org/?cm=var&var=hg19,16,47733261,C,A&fts=all		hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF3		P/Q		A	medium	3290/4283		getma.org/?cm=msa&ty=f&p=KPBB_HUMAN&rb=1049&re=1093&var=P1089Q	deleterious(0.03)	Q6LAJ4_HUMAN			YES	PHKB,missense_variant,p.Pro1082Gln,ENST00000455779,;PHKB,missense_variant,p.Pro1089Gln,ENST00000299167,;PHKB,missense_variant,p.Pro1089Gln,ENST00000323584,NM_000293.2;PHKB,missense_variant,p.Pro1082Gln,ENST00000566044,NM_001031835.2;PHKB,3_prime_UTR_variant,,ENST00000564711,;PHKB,non_coding_transcript_exon_variant,,ENST00000566319,;							MODERATE	3266/3282	P1089Q	KPBB_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000313504		CCDS10729.1			1	
TXK	0	LGGM	GRCh37	4	48073536	48073536	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000264316.4:c.1513G>T	p.Glu505Ter	p.E505*	ENST00000264316	NM_003328.2	505	Gag/Tag	0	1	1	UPI000013D4F9	0	NA	ENST00000264316		ENSG00000074966	12434		49	0		HGNC	p.E160X		TXK		SNV							ENST00000507351	protein_coding	getma.org/?cm=var&var=hg19,4,48073536,C,A&fts=all		Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159,PROSITE_profiles:PS50011		E/*		A	NA	1599/2914		NA		Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN			YES	TXK,stop_gained,p.Glu505Ter,ENST00000264316,NM_003328.2;TXK,stop_gained,p.Glu160Ter,ENST00000507351,;TXK,splice_region_variant,,ENST00000514937,;TXK,splice_region_variant,,ENST00000509681,;							HIGH	1513/1584	E505*	TXK_HUMAN			Transcript			.	ENSP00000264316		CCDS3480.1			1	
GNL2	0	LGGM	GRCh37	1	38033352	38033352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000373062.3:c.1965G>T	p.Lys655Asn	p.K655N	ENST00000373062	NM_013285.2	655	aaG/aaT	0	1	1	UPI0000000C9E	0	NA	ENST00000373062		ENSG00000134697	29925		38	0.805		HGNC	p.K655N		GNL2		SNV							ENST00000373062	protein_coding	getma.org/?cm=var&var=hg19,1,38033352,C,A&fts=all		Low_complexity_(Seg):seg		K/N		A	low	2064/2334		getma.org/?cm=msa&ty=f&p=NOG2_HUMAN&rb=595&re=729&var=K655N	tolerated(0.07)	Q5T0F3_HUMAN			YES	GNL2,missense_variant,p.Lys655Asn,ENST00000373062,NM_013285.2;DNALI1,downstream_gene_variant,,ENST00000296218,NM_003462.3;DNALI1,downstream_gene_variant,,ENST00000541606,;GNL2,non_coding_transcript_exon_variant,,ENST00000462812,;GNL2,non_coding_transcript_exon_variant,,ENST00000490029,;GNL2,non_coding_transcript_exon_variant,,ENST00000479255,;DNALI1,downstream_gene_variant,,ENST00000497858,;DNALI1,downstream_gene_variant,,ENST00000467277,;							MODERATE	1965/2196	K655N	NOG2_HUMAN			Transcript		benign(0.008)	.	ENSP00000362153		CCDS421.1			1	
DDX55	0	LGGM	GRCh37	12	124103374	124103374	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000238146.4:c.1323C>A	p.Phe441Leu	p.F441L	ENST00000238146	NM_020936.1	441	ttC/ttA	0	1	1	UPI000004F594	0	NA	ENST00000238146		ENSG00000111364	20085		41	1.25		HGNC	p.F48L		DDX55		SNV							ENST00000421670	protein_coding	getma.org/?cm=var&var=hg19,12,124103374,C,A&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF2,Pfam_domain:PF13959		F/L		A	low	1373/2654		getma.org/?cm=msa&ty=f&p=DDX55_HUMAN&rb=402&re=465&var=F441L	tolerated(0.8)	Q8IYH0_HUMAN			YES	DDX55,missense_variant,p.Phe441Leu,ENST00000238146,NM_020936.1;DDX55,missense_variant,p.Phe410Leu,ENST00000538744,;DDX55,missense_variant,p.Phe48Leu,ENST00000421670,;EIF2B1,downstream_gene_variant,,ENST00000424014,NM_001414.3;EIF2B1,downstream_gene_variant,,ENST00000539951,;EIF2B1,downstream_gene_variant,,ENST00000534960,;SNORA9,downstream_gene_variant,,ENST00000384170,;DDX55,intron_variant,,ENST00000541259,;DDX55,non_coding_transcript_exon_variant,,ENST00000542286,;DDX55,downstream_gene_variant,,ENST00000539934,;DDX55,downstream_gene_variant,,ENST00000354291,;DDX55,downstream_gene_variant,,ENST00000544738,;DDX55,downstream_gene_variant,,ENST00000543016,;							MODERATE	1323/1803	F441L	DDX55_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000238146		CCDS9251.1			1	
BCMO1	0	LGGM	GRCh37	16	81298325	81298325	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000258168.2:c.552G>T	p.Met184Ile	p.M184I	ENST00000258168	NM_017429.2	184	atG/atT	0	1	1	UPI0000049CF7	0	getma.org/pdb.php?prot=BCDO1_HUMAN&from=2&to=520&var=M184I	ENST00000258168		ENSG00000135697	13815		32	0.945		HGNC	p.M115I		BCMO1		SNV			1				ENST00000425577	protein_coding	getma.org/?cm=var&var=hg19,16,81298325,G,T&fts=all		Pfam_domain:PF03055,hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF22		M/I		T	low	1013/2670		getma.org/?cm=msa&ty=f&p=BCDO1_HUMAN&rb=2&re=520&var=M184I	tolerated(0.2)				YES	BCMO1,missense_variant,p.Met184Ile,ENST00000258168,NM_017429.2;BCMO1,missense_variant,p.Met115Ile,ENST00000425577,;BCMO1,downstream_gene_variant,,ENST00000564552,;BCMO1,3_prime_UTR_variant,,ENST00000563804,;							MODERATE	552/1644	M184I	BCDO1_HUMAN			Transcript		benign(0.02)	.	ENSP00000258168		CCDS10934.1			1	
MS4A14	0	LGGM	GRCh37	11	60183482	60183482	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	4	.	.	ENST00000531783.1:c.1140T>C	p.Ser380=	p.S380=	ENST00000531783	NM_001261828.1	380	tcT/tcC	0	1		UPI000013E636	0		ENST00000300187		ENSG00000166928	30706		25			HGNC	p.S235S		MS4A14		SNV							ENST00000531787	protein_coding			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Low_complexity_(Seg):seg		S		C		1318/2997				F6X344_HUMAN				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,;							LOW	1041/2040		M4A14_HUMAN			Transcript			.	ENSP00000300187		CCDS31569.1			1	
TRIP11	0	LGGM	GRCh37	14	92441058	92441058	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	4	.	.	ENST00000267622.4:c.5487C>A	p.Thr1829=	p.T1829=	ENST00000267622	NM_004239.3	1829	acC/acA	0	1	1	UPI000013D767	0		ENST00000267622		ENSG00000100815	12305		24			HGNC	p.T1829T		TRIP11		SNV			1				ENST00000267622	protein_coding			hmmpanther:PTHR18921,hmmpanther:PTHR18921:SF2		T		T		5861/9996				G3V4R7_HUMAN			YES	TRIP11,synonymous_variant,p.=,ENST00000267622,NM_004239.3;TRIP11,synonymous_variant,p.=,ENST00000554357,;TRIP11,downstream_gene_variant,,ENST00000557017,;							LOW	5487/5940		TRIPB_HUMAN			Transcript			.	ENSP00000267622		CCDS9899.1			1	
ZNF502	0	LGGM	GRCh37	3	44763600	44763600	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000296091.4:c.1291G>T	p.Gly431Ter	p.G431*	ENST00000296091	NM_001134440.1	431	Gga/Tga	0	1	1	UPI0000072CFB	0	NA	ENST00000296091		ENSG00000196653	23718		35	0		HGNC	p.G431X		ZNF502		SNV							ENST00000449836	protein_coding	getma.org/?cm=var&var=hg19,3,44763600,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5,Superfamily_domains:SSF57667		G/*		T	NA	1547/3270		NA		C9JLT3_HUMAN			YES	ZNF502,stop_gained,p.Gly431Ter,ENST00000296091,NM_001134440.1,NM_033210.4,NM_001282880.1;ZNF502,stop_gained,p.Gly431Ter,ENST00000449836,NM_001134441.1,NM_001134442.1;ZNF502,stop_gained,p.Gly431Ter,ENST00000436624,;ZNF502,downstream_gene_variant,,ENST00000411443,;							HIGH	1291/1635	G431*	ZN502_HUMAN			Transcript			.	ENSP00000296091		CCDS2719.1			1	
KLHL3	0	LGGM	GRCh37	5	137056194	137056194	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000309755.4:c.94C>A	p.His32Asn	p.H32N	ENST00000309755	NM_017415.2	32	Cac/Aac	0	1	1	UPI000012DE05	0	NA	ENST00000309755		ENSG00000146021	6354		46	0		HGNC	p.H32N		KLHL3		SNV			1				ENST00000309755	protein_coding	getma.org/?cm=var&var=hg19,5,137056194,G,T&fts=all		Superfamily_domains:SSF54695,PIRSF_domain:PIRSF037037,Gene3D:3.30.710.10,hmmpanther:PTHR24412:SF179,hmmpanther:PTHR24412		H/N		T	neutral	538/6806		getma.org/?cm=msa&ty=f&p=KLHL3_HUMAN&rb=1&re=39&var=H32N	deleterious(0.01)	Q8N4I8_HUMAN,Q49A42_HUMAN			YES	KLHL3,missense_variant,p.His32Asn,ENST00000309755,NM_017415.2;KLHL3,missense_variant,p.His32Asn,ENST00000394937,;KLHL3,5_prime_UTR_variant,,ENST00000508657,NM_001257194.1;KLHL3,intron_variant,,ENST00000505853,;KLHL3,non_coding_transcript_exon_variant,,ENST00000512977,;							MODERATE	94/1764	H32N	KLHL3_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000312397		CCDS4192.1			1	
ASB1	0	LGGM	GRCh37	2	239353033	239353033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	4	.	.	ENST00000264607.4:c.545C>A	p.Pro182His	p.P182H	ENST00000264607	NM_001040445.1	182	cCt/cAt	0	1	1	UPI000004A4F2	0	NA	ENST00000264607		ENSG00000065802	16011		18	0		HGNC	p.P81H		ASB1		SNV							ENST00000409297	protein_coding	getma.org/?cm=var&var=hg19,2,239353033,C,A&fts=all		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24181,hmmpanther:PTHR24181:SF21,Superfamily_domains:SSF48403		P/H		A	neutral	792/6994		getma.org/?cm=msa&ty=f&p=ASB1_HUMAN&rb=148&re=267&var=P182H	deleterious(0.01)				YES	ASB1,missense_variant,p.Pro182His,ENST00000264607,NM_001040445.1;ASB1,missense_variant,p.Pro81His,ENST00000409297,;ASB1,non_coding_transcript_exon_variant,,ENST00000468122,;ASB1,upstream_gene_variant,,ENST00000481566,;ASB1,downstream_gene_variant,,ENST00000463352,;ASB1,3_prime_UTR_variant,,ENST00000438264,;ASB1,non_coding_transcript_exon_variant,,ENST00000491653,;							MODERATE	545/1008	P182H	ASB1_HUMAN			Transcript		benign(0.421)	.	ENSP00000264607		CCDS33416.1			1	
FAT4	0	LGGM	GRCh37	4	126373058	126373058	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	4	.	.	ENST00000394329.3:c.10887C>A	p.Pro3629=	p.P3629=	ENST00000394329	NM_024582.4	3629	ccC/ccA	0	1	1	UPI000155D6E3	0		ENST00000394329		ENSG00000196159	23109		33			HGNC	p.P3629P		FAT4		SNV			1				ENST00000394329	protein_coding			hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41		P		A		10900/16123				B3KRB4_HUMAN			YES	FAT4,synonymous_variant,p.=,ENST00000394329,NM_024582.4;FAT4,synonymous_variant,p.=,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;							LOW	10887/14946		FAT4_HUMAN			Transcript			.	ENSP00000377862		CCDS3732.3			1	
CDKL2	0	LGGM	GRCh37	4	76525516	76525516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	4	.	.	ENST00000429927.2:c.833G>T	p.Cys278Phe	p.C278F	ENST00000429927	NM_003948.3	278	tGt/tTt	0	1	1	UPI000006D070	0	getma.org/pdb.php?prot=CDKL2_HUMAN&from=4&to=287&var=C278F	ENST00000429927		ENSG00000138769	1782		20	0.035		HGNC	p.C278F		CDKL2		SNV							ENST00000307465	protein_coding	getma.org/?cm=var&var=hg19,4,76525516,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF160,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		C/F		A	neutral	1537/3383		getma.org/?cm=msa&ty=f&p=CDKL2_HUMAN&rb=4&re=287&var=C278F	deleterious(0)				YES	CDKL2,missense_variant,p.Cys278Phe,ENST00000429927,NM_003948.3;CDKL2,missense_variant,p.Cys278Phe,ENST00000307465,;CDKL2,3_prime_UTR_variant,,ENST00000506234,;CDKL2,upstream_gene_variant,,ENST00000515793,;							MODERATE	833/1482	C278F	CDKL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412365		CCDS3570.1			1	
ABCC8	0	LGGM	GRCh37	11	17434946	17434946	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000389817.3:c.2470G>T	p.Glu824Ter	p.E824*	ENST00000389817		824	Gaa/Taa	0	1	1	UPI0000DBEF32	0	NA	ENST00000389817		ENSG00000006071	59		35	0		HGNC	p.E824X		ABCC8		SNV			1				ENST00000389817	protein_coding	getma.org/?cm=var&var=hg19,11,17434946,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,SMART_domains:SM00382,Superfamily_domains:SSF52540		E/*		A	NA	2539/4921		NA					YES	ABCC8,stop_gained,p.Glu825Ter,ENST00000302539,NM_000352.3,NM_001287174.1;ABCC8,stop_gained,p.Glu824Ter,ENST00000389817,;ABCC8,stop_gained,p.Glu814Ter,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526921,;ABCC8,non_coding_transcript_exon_variant,,ENST00000529967,;ABCC8,non_coding_transcript_exon_variant,,ENST00000531911,;ABCC8,intron_variant,,ENST00000530147,;							HIGH	2470/4746	E824*	ABCC8_HUMAN			Transcript			.	ENSP00000374467		CCDS31437.1			1	
ZNF658	0	LGGM	GRCh37	9	40773258	40773258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	4	.	.	ENST00000602553.1:c.2017C>A	p.Leu673Met	p.L673M	ENST00000602553		673	Ctg/Atg	0	1	1	UPI000046D388	0	getma.org/pdb.php?prot=Z658B_HUMAN&from=432&to=457&var=L433M	ENST00000602553		ENSG00000196409	25226		28	2.82		HGNC	p.L673M		ZNF658		SNV							ENST00000377626	protein_coding	getma.org/?cm=var&var=hg19,9,40773258,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/M		T	medium	2312/4155		getma.org/?cm=msa&ty=f&p=Z658B_HUMAN&rb=412&re=477&var=L433M	deleterious(0.01)	B3KNB1_HUMAN			YES	ZNF658,missense_variant,p.Leu673Met,ENST00000602553,;ZNF658,missense_variant,p.Leu673Met,ENST00000377626,NM_033160.5;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;							MODERATE	2017/3180	L433M	ZN658_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000473484		CCDS35023.1			1	
NBAS	0	LGGM	GRCh37	2	15415824	15415824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000281513.5:c.5508G>T	p.Lys1836Asn	p.K1836N	ENST00000281513	NM_015909.3	1836	aaG/aaT	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		49	1.87		HGNC	p.K1836N	rs763472560	NBAS		SNV			1	0.000289			ENST00000281513	protein_coding	getma.org/?cm=var&var=hg19,2,15415824,C,A&fts=all		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		K/N		A	low	5534/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=1780&re=1979&var=K1836N	tolerated(0.14)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.Lys1836Asn,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Lys1716Asn,ENST00000441750,;NBAS,missense_variant,p.Lys884Asn,ENST00000442506,;							MODERATE	5508/7116	K1836N	NBAS_HUMAN			Transcript		benign(0.019)	.	ENSP00000281513	2.47E-05	CCDS1685.1			1	
PHGDH	0	LGGM	GRCh37	1	120263834	120263834	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	4	.	.	ENST00000369409.4:c.180C>A	p.Thr60=	p.T60=	ENST00000369409	NM_006623.3	60	acC/acA	0	1	1	UPI000013586A	0		ENST00000369409		ENSG00000092621	8923		48			HGNC	p.T60T		PHGDH		SNV			1				ENST00000369409	protein_coding			Gene3D:3.40.50.720,Pfam_domain:PF00389,hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF20,Superfamily_domains:SSF52283,TIGRFAM_domain:TIGR01327		T		A		316/1913				Q9UMY3_HUMAN,Q9UMY2_HUMAN,Q96RV8_HUMAN,Q96RV7_HUMAN,Q96RV6_HUMAN,Q96RV5_HUMAN,Q8N5M8_HUMAN			YES	PHGDH,synonymous_variant,p.=,ENST00000369407,;PHGDH,synonymous_variant,p.=,ENST00000369409,NM_006623.3;PHGDH,non_coding_transcript_exon_variant,,ENST00000462324,;PHGDH,non_coding_transcript_exon_variant,,ENST00000493622,;PHGDH,non_coding_transcript_exon_variant,,ENST00000496756,;							LOW	180/1602		SERA_HUMAN			Transcript			.	ENSP00000358417		CCDS904.1			1	
WBP11	0	LGGM	GRCh37	12	14943423	14943423	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000261167.2:c.1276C>A	p.Pro426Thr	p.P426T	ENST00000261167	NM_016312.2	426	Cca/Aca	0	1	1	UPI0000035FC2	0	NA	ENST00000261167		ENSG00000084463	16461		37	2.125		HGNC	p.P426T		WBP11		SNV							ENST00000261167	protein_coding	getma.org/?cm=var&var=hg19,12,14943423,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361		P/T		T	medium	1510/2749		getma.org/?cm=msa&ty=f&p=WBP11_HUMAN&rb=295&re=494&var=P426T	deleterious_low_confidence(0.01)	F5GXS9_HUMAN,B4DMD3_HUMAN			YES	WBP11,missense_variant,p.Pro426Thr,ENST00000261167,NM_016312.2;WBP11,downstream_gene_variant,,ENST00000535638,;							MODERATE	1276/1926	P426T	WBP11_HUMAN			Transcript		unknown(0)	.	ENSP00000261167		CCDS8666.1			1	
PAK7	0	LGGM	GRCh37	20	9560912	9560912	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000353224.5:c.870G>T	p.Ser290=	p.S290=	ENST00000353224	NM_177990.2	290	tcG/tcT	0	1		UPI0000035BAD	0		ENST00000353224		ENSG00000101349	15916		41			HGNC	p.S290S		PAK7		SNV							ENST00000378429	protein_coding			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183		S		A		1137/4500				Q9UJQ0_HUMAN				PAK7,synonymous_variant,p.=,ENST00000378429,NM_020341.3;PAK7,synonymous_variant,p.=,ENST00000378423,;PAK7,synonymous_variant,p.=,ENST00000353224,NM_177990.2;RP5-986I17.2,downstream_gene_variant,,ENST00000428769,;							LOW	870/2160		PAK7_HUMAN			Transcript			.	ENSP00000322957		CCDS13107.1			1	
PREP	0	LGGM	GRCh37	6	105824053	105824053	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	4	.	.	ENST00000369110.3:c.332G>T	p.Arg111Ile	p.R111I	ENST00000369110	NM_002726.4	111	aGa/aTa	0	1	1	UPI000006E28E	0	getma.org/pdb.php?prot=PPCE_HUMAN&from=7&to=423&var=R111I	ENST00000369110		ENSG00000085377	9358		23	2.015		HGNC	p.R111I		PREP		SNV							ENST00000369110	protein_coding	getma.org/?cm=var&var=hg19,6,105824053,C,A&fts=all		hmmpanther:PTHR11757:SF2,hmmpanther:PTHR11757,Gene3D:2xdwA02,Pfam_domain:PF02897,Superfamily_domains:SSF50993		R/I		A	medium	525/2905		getma.org/?cm=msa&ty=f&p=PPCE_HUMAN&rb=7&re=423&var=R111I	deleterious(0.02)				YES	PREP,missense_variant,p.Arg111Ile,ENST00000369110,NM_002726.4;							MODERATE	332/2133	R111I	PPCE_HUMAN			Transcript		benign(0.003)	.	ENSP00000358106		CCDS5053.1			1	
C2orf71	0	LGGM	GRCh37	2	29296096	29296096	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	4	.	.	ENST00000331664.5:c.1032C>A	p.Pro344=	p.P344=	ENST00000331664	NM_001029883.2	344	ccC/ccA	0	1	1	UPI0000251DD8	0		ENST00000331664		ENSG00000179270	34383		27			HGNC	p.P344P		C2orf71		SNV			1				ENST00000331664	protein_coding			hmmpanther:PTHR22017,Pfam_domain:PF15449		P		T		1032/7044							YES	C2orf71,synonymous_variant,p.=,ENST00000331664,NM_001029883.2;							LOW	1032/3867		CB071_HUMAN			Transcript			.	ENSP00000332809		CCDS42669.1			1	
C1R	0	LGGM	GRCh37	12	7188323	7188323	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	52	4	.	.	ENST00000542285.1:c.1475C>A	p.Pro492Gln	p.P492Q	ENST00000542285		492	cCg/cAg	0	1	1	UPI00020653A8	0		ENST00000542285		ENSG00000159403	1246		56			HGNC	p.P492Q		C1R		SNV			1				ENST00000542285	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF78,SMART_domains:SM00020,Superfamily_domains:SSF50494		P/Q		T		1625/2112			deleterious(0)	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN			YES	C1R,missense_variant,p.Pro492Gln,ENST00000542285,;C1R,missense_variant,p.Pro120Gln,ENST00000602480,NM_001733.4;C1R,missense_variant,p.Pro120Gln,ENST00000602286,;							MODERATE	1475/1962					Transcript		probably_damaging(1)	.	ENSP00000438615					1	
FAM208B	0	LGGM	GRCh37	10	5790244	5790244	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000328090.5:c.4860C>A	p.Pro1620=	p.P1620=	ENST00000328090	NM_017782.4	1620	ccC/ccA	0	1	1	UPI00004589BB	0		ENST00000328090		ENSG00000108021	23484		41			HGNC	p.P1620P		FAM208B		SNV							ENST00000328090	protein_coding			hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		P		A		5485/8626							YES	FAM208B,synonymous_variant,p.=,ENST00000328090,NM_017782.4;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;							LOW	4860/7293		F208B_HUMAN			Transcript			.	ENSP00000328426		CCDS41485.1			1	
POU5F2	0	LGGM	GRCh37	5	93077036	93077036	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	3	4	.	.	ENST00000510627.4:c.234C>A	p.Pro78=	p.P78=	ENST00000510627	NM_153216.1	78	ccC/ccA	0	1	1	UPI0000135E4C	0		ENST00000510627		ENSG00000248483	26367		7			HGNC	p.P78P		POU5F2		SNV							ENST00000510627	protein_coding			hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636		P		T		308/1368							YES	POU5F2,synonymous_variant,p.=,ENST00000510627,NM_153216.1;FAM172A,intron_variant,,ENST00000395965,NM_032042.5;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;POU5F2,upstream_gene_variant,,ENST00000606183,;FAM172A,intron_variant,,ENST00000502503,;							LOW	234/987		PO5F2_HUMAN			Transcript			.	ENSP00000464890		CCDS59489.1			1	
FCGBP	0	LGGM	GRCh37	19	40376319	40376319	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	4	.	.	ENST00000221347.6:c.11985C>A	p.Tyr3995Ter	p.Y3995*	ENST00000221347	NM_003890.2	3995	taC/taA	0	1	1	UPI00001B0455	0	NA	ENST00000221347		ENSG00000090920	13572		22	0		HGNC	p.Y3995X		FCGBP		SNV							ENST00000221347	protein_coding	getma.org/?cm=var&var=hg19,19,40376319,G,T&fts=all		hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Pfam_domain:PF12714,SMART_domains:SM00215,SMART_domains:SM00214		Y/*		T	NA	11993/16390		NA					YES	FCGBP,stop_gained,p.Tyr3995Ter,ENST00000221347,NM_003890.2;FCGBP,downstream_gene_variant,,ENST00000595713,;							HIGH	11985/16218	Y3995*	FCGBP_HUMAN			Transcript			.	ENSP00000221347		CCDS12546.1			1	
SLC22A14	0	LGGM	GRCh37	3	38348812	38348812	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	49	4	.	.	ENST00000273173.4:c.584C>A	p.Pro195Gln	p.P195Q	ENST00000273173	NM_004803.3	195	cCg/cAg	0	1	1	UPI00001AE9A8	0	NA	ENST00000273173		ENSG00000144671	8495		53	-0.345		HGNC	p.P195Q		SLC22A14		SNV							ENST00000423219	protein_coding	getma.org/?cm=var&var=hg19,3,38348812,C,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF48,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		P/Q		A	neutral	675/2202		getma.org/?cm=msa&ty=f&p=S22AE_HUMAN&rb=155&re=573&var=P195Q	deleterious(0)	F5H7H1_HUMAN			YES	SLC22A14,missense_variant,p.Pro195Gln,ENST00000273173,NM_004803.3;SLC22A14,missense_variant,p.Pro195Gln,ENST00000448498,;SLC22A14,missense_variant,p.Pro63Gln,ENST00000466887,;RNU6-235P,upstream_gene_variant,,ENST00000362644,;SLC22A14,non_coding_transcript_exon_variant,,ENST00000496724,;							MODERATE	584/1785	P195Q	S22AE_HUMAN			Transcript		benign(0.087)	.	ENSP00000273173		CCDS2677.1			1	
GTF2I	0	LGGM	GRCh37	7	74103513	74103513	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	55	4	.	.	ENST00000324896.4:c.51G>T	p.Ser17=	p.S17=	ENST00000324896	NM_032999.3	17	tcG/tcT	0	1	1	UPI0000001233	0		ENST00000324896		ENSG00000077809	4659		59			HGNC	p.S17S		GTF2I		SNV							ENST00000353920	protein_coding			PIRSF_domain:PIRSF016441,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF94		S		T		440/4548				C9J6M0_HUMAN,B4DRA9_HUMAN,B4DM07_HUMAN,B4DH52_HUMAN			YES	GTF2I,synonymous_variant,p.=,ENST00000324896,NM_032999.3;GTF2I,synonymous_variant,p.=,ENST00000353920,NM_033000.3;GTF2I,synonymous_variant,p.=,ENST00000346152,NM_033001.3,NM_001163636.2;GTF2I,synonymous_variant,p.=,ENST00000416070,NM_001518.4;GTF2I,synonymous_variant,p.=,ENST00000443166,NM_001280800.1;GTF2I,synonymous_variant,p.=,ENST00000432143,;AC083884.8,non_coding_transcript_exon_variant,,ENST00000450426,;GTF2I,intron_variant,,ENST00000485000,;							LOW	51/2997		GTF2I_HUMAN			Transcript			.	ENSP00000322542		CCDS5573.1			1	
ZNF77	0	LGGM	GRCh37	19	2936648	2936648	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000314531.4:c.185G>T	p.Gly62Val	p.G62V	ENST00000314531	NM_021217.2	62	gGg/gTg	0	1	1	UPI0000160564	0	NA	ENST00000314531		ENSG00000175691	13150		44	0.205		HGNC	p.G62V		ZNF77		SNV							ENST00000314531	protein_coding	getma.org/?cm=var&var=hg19,19,2936648,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF51,SMART_domains:SM00349		G/V		A	neutral	278/2002		getma.org/?cm=msa&ty=f&p=ZNF77_HUMAN&rb=4&re=99&var=G62V	tolerated(0.19)				YES	ZNF77,missense_variant,p.Gly62Val,ENST00000314531,NM_021217.2;ZNF77,downstream_gene_variant,,ENST00000588050,;							MODERATE	185/1638	G62V	ZNF77_HUMAN			Transcript		benign(0.002)	.	ENSP00000319053		CCDS12099.1			1	
ADNP2	0	LGGM	GRCh37	18	77896121	77896121	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000262198.4:c.2825C>A	p.Pro942His	p.P942H	ENST00000262198	NM_014913.3	942	cCc/cAc	0	1	1	UPI0000071DEA	0	NA	ENST00000262198		ENSG00000101544	23803		36	2.095		HGNC	p.P942H		ADNP2		SNV							ENST00000262198	protein_coding	getma.org/?cm=var&var=hg19,18,77896121,C,A&fts=all		hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740		P/H		A	medium	3280/5393		getma.org/?cm=msa&ty=f&p=ADNP2_HUMAN&rb=801&re=1000&var=P942H	deleterious(0)	H0YLN6_HUMAN			YES	ADNP2,missense_variant,p.Pro942His,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;							MODERATE	2825/3396	P942H	ADNP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262198		CCDS32853.1			1	
DIS3	0	LGGM	GRCh37	13	73346356	73346356	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000377767.4:c.1444G>T	p.Gly482Ter	p.G482*	ENST00000377767	NM_014953.3	482	Gga/Tga	0	1	1	UPI0000141B79	0	NA	ENST00000377767		ENSG00000083520	20604		38	0		HGNC	p.G482X		DIS3		SNV							ENST00000377767	protein_coding	getma.org/?cm=var&var=hg19,13,73346356,C,A&fts=all		Superfamily_domains:SSF50249,SMART_domains:SM00955,Pfam_domain:PF00773,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35		G/*		A	NA	1545/7371		NA		G3V1J5_HUMAN,B3KM83_HUMAN			YES	DIS3,stop_gained,p.Gly482Ter,ENST00000377767,NM_014953.3;DIS3,stop_gained,p.Gly452Ter,ENST00000377780,NM_001128226.1;DIS3,stop_gained,p.Gly320Ter,ENST00000545453,;DIS3,non_coding_transcript_exon_variant,,ENST00000469339,;DIS3,stop_gained,p.Gly482Ter,ENST00000490646,;							HIGH	1444/2877	G482*	RRP44_HUMAN			Transcript			.	ENSP00000366997		CCDS9447.1			1	
APOB	0	LGGM	GRCh37	2	21233395	21233395	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000233242.1:c.6345G>T	p.Leu2115=	p.L2115=	ENST00000233242	NM_000384.2	2115	ctG/ctT	0	1	1	UPI0000141B94	0		ENST00000233242		ENSG00000084674	603		49			HGNC	p.L2115L		APOB		SNV			1				ENST00000233242	protein_coding			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		L		A		6473/14121				S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;							LOW	6345/13692		APOB_HUMAN			Transcript			.	ENSP00000233242		CCDS1703.1			1	
CNGA3	0	LGGM	GRCh37	2	99006190	99006190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	54	4	.	.	ENST00000393504.1:c.519C>A	p.Thr173=	p.T173=	ENST00000393504	NM_001298.2	173	acC/acA	0	1		UPI000004717B	0		ENST00000272602		ENSG00000144191	2150		58			HGNC	p.T173T		CNGA3		SNV			1				ENST00000393504	protein_coding			Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF390,Superfamily_domains:SSF81324		T		A		558/3470								CNGA3,synonymous_variant,p.=,ENST00000393504,NM_001298.2;CNGA3,synonymous_variant,p.=,ENST00000272602,;CNGA3,synonymous_variant,p.=,ENST00000409937,;CNGA3,synonymous_variant,p.=,ENST00000436404,NM_001079878.1;CNGA3,non_coding_transcript_exon_variant,,ENST00000393503,;							LOW	519/2085		CNGA3_HUMAN			Transcript			.	ENSP00000272602		CCDS2034.1			1	
SRCAP	0	LGGM	GRCh37	16	30747566	30747566	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000262518.4:c.6775C>A	p.Gln2259Lys	p.Q2259K	ENST00000262518	NM_006662.2	2259	Cag/Aag	0	1	1	UPI000059D368	0	NA	ENST00000262518		ENSG00000080603	16974		40	0.895		HGNC	p.Q2197K		SRCAP		SNV			1				ENST00000395059	protein_coding	getma.org/?cm=var&var=hg19,16,30747566,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581		Q/K		A	low	7160/10474		getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=2231&re=2329&var=Q2259K		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,missense_variant,p.Gln2259Lys,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Gln2197Lys,ENST00000395059,;SRCAP,missense_variant,p.Gln2101Lys,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,missense_variant,p.Gln2082Lys,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000474008,;							MODERATE	6775/9693	Q2259K	SRCAP_HUMAN			Transcript		possibly_damaging(0.693)	.	ENSP00000262518		CCDS10689.2			1	
FOXO1	0	LGGM	GRCh37	13	41134911	41134911	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000379561.5:c.717C>A	p.Leu239=	p.L239=	ENST00000379561	NM_002015.3	239	ctC/ctA	0	1	1	UPI000013DC20	0		ENST00000379561		ENSG00000150907	3819		46			HGNC	p.L239L		FOXO1		SNV			1				ENST00000379561	protein_coding			PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785		L		T		1102/5735							YES	FOXO1,synonymous_variant,p.=,ENST00000379561,NM_002015.3;FOXO1,non_coding_transcript_exon_variant,,ENST00000473775,;							LOW	717/1968		FOXO1_HUMAN			Transcript			.	ENSP00000368880		CCDS9371.1			1	
MTUS2	0	LGGM	GRCh37	13	29855919	29855919	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000431530.3:c.2753G>T	p.Arg918Leu	p.R918L	ENST00000431530	NM_001033602.2	918	cGg/cTg	0	1	1	UPI0000F734AC	0	NA	ENST00000431530		ENSG00000132938	20595		49	1.67		HGNC	p.R918L		MTUS2		SNV							ENST00000431530	protein_coding	getma.org/?cm=var&var=hg19,13,29855919,G,T&fts=all		hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		R/L		T	low	2811/4747		getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=R908L	deleterious(0)	J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,missense_variant,p.Arg918Leu,ENST00000431530,NM_001033602.2;MTUS2,downstream_gene_variant,,ENST00000255289,;							MODERATE	2753/4140	R908L				Transcript		probably_damaging(0.999)	.	ENSP00000392057		CCDS45022.1			1	
SYT2	0	LGGM	GRCh37	1	202569551	202569551	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000367267.1:c.853G>T	p.Gly285Trp	p.G285W	ENST00000367267	NM_001136504.1	285	Ggg/Tgg	0	1	1	UPI000006E8FC	0	getma.org/pdb.php?prot=SYT2_HUMAN&from=272&to=375&var=G285W	ENST00000367267		ENSG00000143858	11510		45	3.365		HGNC	p.G285W		SYT2		SNV							ENST00000367268	protein_coding	getma.org/?cm=var&var=hg19,1,202569551,C,A&fts=all		Gene3D:2.60.40.150,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF208,Superfamily_domains:SSF49562		G/W		A	medium	1046/7614		getma.org/?cm=msa&ty=f&p=SYT2_HUMAN&rb=272&re=375&var=G285W	deleterious(0)				YES	SYT2,missense_variant,p.Gly285Trp,ENST00000367267,NM_001136504.1;SYT2,missense_variant,p.Gly285Trp,ENST00000367268,NM_177402.4;RP11-569A11.1,upstream_gene_variant,,ENST00000428573,;							MODERATE	853/1260	G285W	SYT2_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000356236		CCDS1427.1			1	
RNF213	0	LGGM	GRCh37	17	78317797	78317797	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000582970.1:c.6324G>T	p.Ser2108=	p.S2108=	ENST00000582970	NM_001256071.1	2108	tcG/tcT	0	1	1	UPI0001D3BDB1	0		ENST00000582970		ENSG00000173821	14539		46			HGNC	p.S181S		RNF213		SNV			1				ENST00000336301	protein_coding			hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		S		T		6467/21055				H3BLU6_HUMAN			YES	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.1;RNF213,synonymous_variant,p.=,ENST00000508628,;RNF213,synonymous_variant,p.=,ENST00000336301,;RNF213,downstream_gene_variant,,ENST00000571908,;							LOW	6324/15624		RN213_HUMAN			Transcript			.	ENSP00000464087		CCDS58606.1			1	
PTPN6	0	LGGM	GRCh37	12	7069149	7069149	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	4	.	.	ENST00000456013.1:c.1421C>A	p.Ser474Tyr	p.S474Y	ENST00000456013	NM_080549.3	474	tCc/tAc	0	1		UPI000013296A	0	getma.org/pdb.php?prot=PTN6_HUMAN&from=270&to=514&var=S474Y	ENST00000318974		ENSG00000111679	9658		19	1.65		HGNC	p.S474Y		PTPN6		SNV							ENST00000318974	protein_coding	getma.org/?cm=var&var=hg19,12,7069149,C,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000929,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF65,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		S/Y		A	low	1665/2245		getma.org/?cm=msa&ty=f&p=PTN6_HUMAN&rb=270&re=514&var=S474Y	deleterious(0.03)	F5H0N8_HUMAN				PTPN6,missense_variant,p.Ser474Tyr,ENST00000456013,NM_080549.3;PTPN6,missense_variant,p.Ser474Tyr,ENST00000318974,NM_002831.5;PTPN6,missense_variant,p.Ser476Tyr,ENST00000399448,NM_080548.4;PTPN6,missense_variant,p.Ser435Tyr,ENST00000447931,;PTPN6,downstream_gene_variant,,ENST00000541698,;PTPN6,downstream_gene_variant,,ENST00000542462,;U47924.27,upstream_gene_variant,,ENST00000537269,;MIR141,upstream_gene_variant,,ENST00000384975,;MIR200C,upstream_gene_variant,,ENST00000384980,;U47924.29,upstream_gene_variant,,ENST00000606539,;PTPN6,non_coding_transcript_exon_variant,,ENST00000539029,;PTPN6,non_coding_transcript_exon_variant,,ENST00000537533,;EMG1,upstream_gene_variant,,ENST00000607161,;PTPN6,downstream_gene_variant,,ENST00000534900,;PTPN6,non_coding_transcript_exon_variant,,ENST00000416215,;PTPN6,non_coding_transcript_exon_variant,,ENST00000542761,;PTPN6,downstream_gene_variant,,ENST00000545153,;PTPN6,downstream_gene_variant,,ENST00000539365,;PTPN6,downstream_gene_variant,,ENST00000538318,;PTPN6,downstream_gene_variant,,ENST00000542848,;PTPN6,downstream_gene_variant,,ENST00000536013,;							MODERATE	1421/1788	S474Y	PTN6_HUMAN			Transcript		benign(0.04)	.	ENSP00000326010		CCDS44820.1			1	
MAP3K9	0	LGGM	GRCh37	14	71215627	71215627	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000555993.2:c.1245C>A	p.Pro415=	p.P415=	ENST00000555993	NM_033141.2	415	ccC/ccA	0	1		UPI0000D62427	0		ENST00000554752		ENSG00000006432	6861		42			HGNC	p.P415P		MAP3K9		SNV							ENST00000381250	protein_coding			PIRSF_domain:PIRSF000556,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF401		P		T		1245/11169				Q8NEB1_HUMAN,B4DSG3_HUMAN,B3KRI5_HUMAN				MAP3K9,synonymous_variant,p.=,ENST00000554752,NM_001284230.1;MAP3K9,synonymous_variant,p.=,ENST00000555993,NM_033141.2;MAP3K9,synonymous_variant,p.=,ENST00000381250,;MAP3K9,synonymous_variant,p.=,ENST00000553414,NM_001284232.1;MAP3K9,synonymous_variant,p.=,ENST00000554146,;MAP3K9,downstream_gene_variant,,ENST00000554024,;							LOW	1245/3315		M3K9_HUMAN			Transcript			.	ENSP00000451612		CCDS61488.1			1	
RBM41	0	LGGM	GRCh37	X	106332028	106332028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000372479.3:c.565C>A	p.Leu189Met	p.L189M	ENST00000372479	NM_018301.3	189	Ctg/Atg	0	1	1	UPI000013CC0E	0	NA	ENST00000372479		ENSG00000089682	25617		37	0.55		HGNC	p.L189M		RBM41		SNV							ENST00000372479	protein_coding	getma.org/?cm=var&var=hg19,X,106332028,G,T&fts=all		hmmpanther:PTHR16105,hmmpanther:PTHR16105:SF1		L/M		T	neutral	596/1662		getma.org/?cm=msa&ty=f&p=RBM41_HUMAN&rb=1&re=264&var=L189M	tolerated(0.08)				YES	RBM41,missense_variant,p.Leu189Met,ENST00000372487,NM_001171080.1;RBM41,missense_variant,p.Leu189Met,ENST00000372479,NM_018301.3;RBM41,missense_variant,p.Leu213Met,ENST00000203616,;RBM41,intron_variant,,ENST00000434854,;RBM41,non_coding_transcript_exon_variant,,ENST00000485676,;RBM41,non_coding_transcript_exon_variant,,ENST00000475556,;RBM41,missense_variant,p.Leu213Met,ENST00000495517,;							MODERATE	565/1242	L189M	RBM41_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000361557		CCDS14526.1			1	
VPS13A	0	LGGM	GRCh37	9	79929579	79929579	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000360280.3:c.4411C>A	p.Arg1471=	p.R1471=	ENST00000360280	NM_033305.2	1471	Cga/Aga	0	1	1	UPI0000210B7A	0		ENST00000360280		ENSG00000197969	1908		50			HGNC	p.R1432R		VPS13A		SNV			1				ENST00000376636	protein_coding			hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22		R		A		4671/15320							YES	VPS13A,splice_region_variant,p.=,ENST00000360280,NM_033305.2;VPS13A,splice_region_variant,p.=,ENST00000376636,NM_001018037.1;VPS13A,splice_region_variant,p.=,ENST00000376634,NM_001018038.2;VPS13A,splice_region_variant,p.=,ENST00000357409,NM_015186.3;VPS13A,upstream_gene_variant,,ENST00000419472,;VPS13A,splice_region_variant,,ENST00000423463,;VPS13A,splice_region_variant,,ENST00000493341,;							LOW	4411/9525		VP13A_HUMAN			Transcript			.	ENSP00000353422		CCDS6655.1			1	
RPRD2	0	LGGM	GRCh37	1	150443601	150443601	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	4	.	.	ENST00000369068.4:c.2177G>T	p.Arg726Leu	p.R726L	ENST00000369068	NM_015203.3	726	cGg/cTg	0	1	1	UPI00001D7CA8	0	NA	ENST00000369068		ENSG00000163125	29039		90	0.975		HGNC	p.R726L		RPRD2		SNV							ENST00000369068	protein_coding	getma.org/?cm=var&var=hg19,1,150443601,G,T&fts=all		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0		R/L		T	low	2181/4612		getma.org/?cm=msa&ty=f&p=RPRD2_HUMAN&rb=535&re=734&var=R726L	deleterious_low_confidence(0)				YES	RPRD2,missense_variant,p.Arg700Leu,ENST00000401000,;RPRD2,missense_variant,p.Arg726Leu,ENST00000369068,NM_015203.3;RPRD2,missense_variant,p.Arg700Leu,ENST00000539519,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;							MODERATE	2177/4386	R726L	RPRD2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000358064		CCDS44216.1			1	
OBSCN	0	LGGM	GRCh37	1	228494295	228494295	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	4	.	.	ENST00000570156.2:c.14753G>T	p.Cys4918Phe	p.C4918F	ENST00000570156	NM_001271223.2	4918	tGc/tTc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=3890&to=3976&var=C3961F	ENST00000422127		ENSG00000154358	15719		14	3.13		HGNC	p.C4673F		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228494295,G,T&fts=all		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		C/F		T	medium	11926/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=3890&re=3976&var=C3961F						OBSCN,missense_variant,p.Cys4918Phe,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Cys1595Phe,ENST00000366707,;OBSCN,missense_variant,p.Cys3961Phe,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Cys3961Phe,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Cys1080Phe,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,;							MODERATE	11882/23907	C3961F	OBSCN_HUMAN			Transcript		benign(0.001)	.	ENSP00000409493		CCDS58065.1			1	
TUBG2	0	LGGM	GRCh37	17	40818692	40818692	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000251412.7:c.1230G>T	p.Lys410Asn	p.K410N	ENST00000251412	NM_016437.2	410	aaG/aaT	0	1	1	UPI0000136A5C	0	getma.org/pdb.php?prot=TBG2_HUMAN&from=394&to=451&var=K410N	ENST00000251412		ENSG00000037042	12419		36	2.095		HGNC	p.K410N		TUBG2		SNV							ENST00000251412	protein_coding	getma.org/?cm=var&var=hg19,17,40818692,G,T&fts=all		hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF79,Gene3D:1.10.287.600,Superfamily_domains:SSF55307		K/N		T	medium	1429/1761		getma.org/?cm=msa&ty=f&p=TBG2_HUMAN&rb=394&re=451&var=K410N	tolerated(0.08)				YES	TUBG2,missense_variant,p.Lys410Asn,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,;PLEKHH3,downstream_gene_variant,,ENST00000591476,;							MODERATE	1230/1356	K410N	TBG2_HUMAN			Transcript		possibly_damaging(0.54)	.	ENSP00000251412		CCDS32658.1			1	
SLC23A2	0	LGGM	GRCh37	20	4837632	4837632	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	4	.	.	ENST00000379333.1:c.1939C>A	p.Gln647Lys	p.Q647K	ENST00000379333	NM_203327.1	647	Cag/Aag	0	1		UPI0000136292	0	NA	ENST00000338244		ENSG00000089057	10973	8.64E-05	33	-0.46		HGNC	p.Q647K	rs776326380	SLC23A2		SNV							ENST00000379333	protein_coding	getma.org/?cm=var&var=hg19,20,4837632,G,T&fts=all		hmmpanther:PTHR11119,hmmpanther:PTHR11119:SF33		Q/K		T	neutral	2314/6944		getma.org/?cm=msa&ty=f&p=S23A2_HUMAN&rb=537&re=650&var=Q647K	tolerated(0.25)	Q4ZGM1_HUMAN				SLC23A2,missense_variant,p.Gln647Lys,ENST00000379333,NM_203327.1;SLC23A2,missense_variant,p.Gln647Lys,ENST00000338244,NM_005116.5;SLC23A2,missense_variant,p.Gln533Lys,ENST00000424750,;SLC23A2,downstream_gene_variant,,ENST00000423430,;							MODERATE	1939/1953	Q647K	S23A2_HUMAN			Transcript		benign(0.002)	.	ENSP00000344322	8.24E-06	CCDS13085.1			1	
CYB561D2	0	LGGM	GRCh37	3	50390918	50390918	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000418577.1:c.412G>T	p.Gly138Trp	p.G138W	ENST00000418577		138	Ggg/Tgg	0	1		UPI000000DC32	0	NA	ENST00000232508		ENSG00000114395	30253		44	2.955		HGNC	p.G138W		CYB561D2		SNV							ENST00000418577	protein_coding	getma.org/?cm=var&var=hg19,3,50390918,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50939,hmmpanther:PTHR15422,hmmpanther:PTHR15422:SF21,Pfam_domain:PF03188,SMART_domains:SM00665		G/W		T	medium	643/1225		getma.org/?cm=msa&ty=f&p=C56D2_HUMAN&rb=47&re=184&var=G138W	deleterious(0)					CYB561D2,missense_variant,p.Gly138Trp,ENST00000418577,;CYB561D2,missense_variant,p.Gly138Trp,ENST00000425346,;CYB561D2,missense_variant,p.Gly138Trp,ENST00000232508,NM_007022.3;CYB561D2,missense_variant,p.Gly138Trp,ENST00000424512,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;TMEM115,downstream_gene_variant,,ENST00000266025,NM_007024.4;NPRL2,upstream_gene_variant,,ENST00000232501,NM_006545.4;CYB561D2,intron_variant,,ENST00000490926,;CYB561D2,downstream_gene_variant,,ENST00000419046,;NPRL2,upstream_gene_variant,,ENST00000493465,;NPRL2,upstream_gene_variant,,ENST00000467294,;NPRL2,upstream_gene_variant,,ENST00000480296,;NPRL2,upstream_gene_variant,,ENST00000461020,;NPRL2,upstream_gene_variant,,ENST00000487632,;NPRL2,upstream_gene_variant,,ENST00000479512,;NPRL2,upstream_gene_variant,,ENST00000451194,;NPRL2,upstream_gene_variant,,ENST00000476064,;NPRL2,upstream_gene_variant,,ENST00000433381,;NPRL2,upstream_gene_variant,,ENST00000429366,;NPRL2,upstream_gene_variant,,ENST00000418825,;NPRL2,upstream_gene_variant,,ENST00000433999,;NPRL2,upstream_gene_variant,,ENST00000469839,;NPRL2,upstream_gene_variant,,ENST00000448302,;NPRL2,upstream_gene_variant,,ENST00000493907,;NPRL2,upstream_gene_variant,,ENST00000492805,;							MODERATE	412/669	G138W	C56D2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000232508		CCDS2827.1			1	
SMEK1	0	LGGM	GRCh37	14	91939608	91939608	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000554684.1:c.1334C>A	p.Pro445Gln	p.P445Q	ENST00000554684	NM_001284280.1	445	cCa/cAa	0	1		UPI000037834C	0	NA	ENST00000554943		ENSG00000100796	20219		35	3.085		HGNC	p.P445Q		SMEK1		SNV							ENST00000337238	protein_coding	getma.org/?cm=var&var=hg19,14,91939608,G,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF3		P/Q		T	medium	1489/3369		getma.org/?cm=msa&ty=f&p=P4R3A_HUMAN&rb=358&re=557&var=P458Q	deleterious(0)	G3V4R3_HUMAN,G3V231_HUMAN				SMEK1,missense_variant,p.Pro445Gln,ENST00000554684,NM_001284280.1;SMEK1,missense_variant,p.Pro445Gln,ENST00000337238,NM_032560.4;SMEK1,missense_variant,p.Pro458Gln,ENST00000554943,;SMEK1,missense_variant,p.Pro219Gln,ENST00000555462,NM_001284281.1;SMEK1,missense_variant,p.Pro219Gln,ENST00000428424,;SMEK1,downstream_gene_variant,,ENST00000555470,;SMEK1,downstream_gene_variant,,ENST00000555029,;SMEK1,missense_variant,p.Pro445Gln,ENST00000554390,;SMEK1,missense_variant,p.Pro448Gln,ENST00000554308,;SMEK1,downstream_gene_variant,,ENST00000554574,;							MODERATE	1373/2502	P458Q	P4R3A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000450883					1	
ZBTB21	0	LGGM	GRCh37	21	43411610	43411610	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000310826.5:c.2595C>A	p.Pro865=	p.P865=	ENST00000310826	NM_001098402.1	865	ccC/ccA	0	1	1	UPI000013C34D	0		ENST00000310826		ENSG00000173276	13083		49			HGNC	p.P664P		ZBTB21		SNV							ENST00000398505	protein_coding			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF8		P		T		2779/7449				Q5KS07_HUMAN,E7EVF9_HUMAN			YES	ZBTB21,synonymous_variant,p.=,ENST00000310826,NM_001098402.1;ZBTB21,synonymous_variant,p.=,ENST00000398505,NM_001098403.1;ZBTB21,synonymous_variant,p.=,ENST00000398499,;ZBTB21,synonymous_variant,p.=,ENST00000398511,NM_020727.4;ZBTB21,downstream_gene_variant,,ENST00000425521,;ZBTB21,downstream_gene_variant,,ENST00000398497,;ZBTB21,downstream_gene_variant,,ENST00000449949,;ZBTB21,non_coding_transcript_exon_variant,,ENST00000465968,;							LOW	2595/3201		ZBT21_HUMAN			Transcript			.	ENSP00000308759		CCDS13678.1			1	
CRMP1	0	LGGM	GRCh37	4	5862865	5862865	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000324989.7:c.543C>A	p.Pro181=	p.P181=	ENST00000324989	NM_001014809.1	181	ccC/ccA	0	1		UPI0000047FA2	0		ENST00000397890		ENSG00000072832	2365		36			HGNC	p.P181P		CRMP1		SNV							ENST00000324989	protein_coding			Gene3D:2.30.40.10,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Superfamily_domains:SSF51338,TIGRFAM_domain:TIGR02033		P		T		416/2911				Q96I11_HUMAN,B3KT07_HUMAN				CRMP1,synonymous_variant,p.=,ENST00000324989,NM_001014809.1;CRMP1,synonymous_variant,p.=,ENST00000397890,NM_001313.3;CRMP1,synonymous_variant,p.=,ENST00000512574,NM_001288661.1;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,intron_variant,,ENST00000506216,;							LOW	201/1719		DPYL1_HUMAN			Transcript			.	ENSP00000380987		CCDS43207.1			1	
CASK	0	LGGM	GRCh37	X	41495910	41495910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000378166.4:c.836G>T	p.Arg279Leu	p.R279L	ENST00000378166	NM_003688.3	279	cGg/cTg	0	1		UPI0000458AE9	0	getma.org/pdb.php?prot=CSKP_HUMAN&from=277&to=345&var=R279L	ENST00000378163		ENSG00000147044	1497		50	2.41		HGNC	p.R279L		CASK		SNV			1				ENST00000378154	protein_coding	getma.org/?cm=var&var=hg19,X,41495910,C,A&fts=all		Superfamily_domains:SSF56112,Gene3D:1.10.510.10,hmmpanther:PTHR23122:SF40,hmmpanther:PTHR23122		R/L		A	medium	1311/4411		getma.org/?cm=msa&ty=f&p=CSKP_HUMAN&rb=277&re=345&var=R279L	deleterious(0.01)					CASK,missense_variant,p.Arg279Leu,ENST00000318588,;CASK,missense_variant,p.Arg279Leu,ENST00000361962,;CASK,missense_variant,p.Arg279Leu,ENST00000421587,NM_001126055.2;CASK,missense_variant,p.Arg279Leu,ENST00000378163,;CASK,missense_variant,p.Arg279Leu,ENST00000378158,;CASK,missense_variant,p.Arg279Leu,ENST00000378166,NM_003688.3;CASK,missense_variant,p.Arg279Leu,ENST00000442742,NM_001126054.2;CASK,missense_variant,p.Arg279Leu,ENST00000378154,;RN7SL406P,upstream_gene_variant,,ENST00000582021,;CASK,non_coding_transcript_exon_variant,,ENST00000469265,;							MODERATE	836/2781	R279L	CSKP_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000367405					1	
ALKBH2	0	LGGM	GRCh37	12	109526187	109526187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000429722.2:c.610G>T	p.Gly204Trp	p.G204W	ENST00000429722	NM_001145374.1	204	Ggg/Tgg	0	1		UPI0000160F58	0		ENST00000343075		ENSG00000189046	32487		31			HGNC	p.G204W		ALKBH2		SNV							ENST00000429722	protein_coding			Gene3D:3i3qA00,Pfam_domain:PF13532,PROSITE_profiles:PS51471,hmmpanther:PTHR31573,hmmpanther:PTHR31573:SF1,Superfamily_domains:SSF51197		G/W		A		837/1028			deleterious(0)	F5H5X2_HUMAN,F5GZZ0_HUMAN				ALKBH2,missense_variant,p.Gly204Trp,ENST00000429722,NM_001145374.1;ALKBH2,missense_variant,p.Gly204Trp,ENST00000343075,NM_001001655.2,NM_001145375.1;ALKBH2,synonymous_variant,p.=,ENST00000440112,NM_001205180.1,NM_001205179.1;USP30,downstream_gene_variant,,ENST00000257548,NM_032663.3;USP30,downstream_gene_variant,,ENST00000392784,;ALKBH2,downstream_gene_variant,,ENST00000536358,;ALKBH2,downstream_gene_variant,,ENST00000543444,;ALKBH2,downstream_gene_variant,,ENST00000536242,;USP30,downstream_gene_variant,,ENST00000479219,;ALKBH2,downstream_gene_variant,,ENST00000536720,;USP30,downstream_gene_variant,,ENST00000491362,;USP30,downstream_gene_variant,,ENST00000470117,;							MODERATE	610/786		ALKB2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000343021		CCDS31897.1			1	
DOCK4	0	LGGM	GRCh37	7	111585797	111585797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	58	4	.	.	ENST00000437633.1:c.758C>A	p.Pro253Gln	p.P253Q	ENST00000437633	NM_014705.3	253	cCg/cAg	0	1	1	UPI0000D5BB0D	0	NA	ENST00000437633		ENSG00000128512	19192		62	0		HGNC	p.P253Q		DOCK4		SNV							ENST00000428084	protein_coding	getma.org/?cm=var&var=hg19,7,111585797,G,T&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75		P/Q		T	neutral	1015/6212		getma.org/?cm=msa&ty=f&p=DOCK4_HUMAN&rb=65&re=264&var=P253Q	tolerated(0.11)	Q75MU6_HUMAN			YES	DOCK4,missense_variant,p.Pro253Gln,ENST00000428084,;DOCK4,missense_variant,p.Pro253Gln,ENST00000437633,NM_014705.3;DOCK4,missense_variant,p.Pro241Gln,ENST00000445943,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;							MODERATE	758/5901	P253Q	DOCK4_HUMAN			Transcript		benign(0.136)	.	ENSP00000404179		CCDS47688.1			1	
RFC5	0	LGGM	GRCh37	12	118464755	118464755	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000454402.2:c.725C>A	p.Pro242Gln	p.P242Q	ENST00000454402	NM_007370.5	242	cCg/cAg	0	1	1	UPI00000622E5	0	getma.org/pdb.php?prot=RFC5_HUMAN&from=240&to=329&var=P242Q	ENST00000454402		ENSG00000111445	9973		44	3.455		HGNC	p.P221Q		RFC5		SNV							ENST00000392542	protein_coding	getma.org/?cm=var&var=hg19,12,118464755,C,A&fts=all		hmmpanther:PTHR11669:SF9,hmmpanther:PTHR11669,Pfam_domain:PF08542,Gene3D:1.20.272.10,Superfamily_domains:SSF48019		P/Q		A	medium	843/1655		getma.org/?cm=msa&ty=f&p=RFC5_HUMAN&rb=240&re=329&var=P242Q	deleterious(0)	F8W9B4_HUMAN,F5H5S0_HUMAN,E9PEP3_HUMAN			YES	RFC5,missense_variant,p.Pro221Gln,ENST00000392542,NM_181578.3;RFC5,missense_variant,p.Pro157Gln,ENST00000229043,NM_001130112.2;RFC5,missense_variant,p.Pro242Gln,ENST00000454402,NM_007370.5,NM_001206801.1;RFC5,downstream_gene_variant,,ENST00000537315,;RFC5,downstream_gene_variant,,ENST00000449641,;RFC5,downstream_gene_variant,,ENST00000420967,;RFC5,non_coding_transcript_exon_variant,,ENST00000543153,;RFC5,non_coding_transcript_exon_variant,,ENST00000472603,;							MODERATE	725/1023	P242Q	RFC5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000408295		CCDS9185.1			1	
LCT	0	LGGM	GRCh37	2	136566875	136566875	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	4	.	.	ENST00000264162.2:c.3042C>A	p.Pro1014=	p.P1014=	ENST00000264162	NM_002299.2	1014	ccC/ccA	0	1	1	UPI000013D4D2	0		ENST00000264162		ENSG00000115850	6530		28			HGNC	p.P446P		LCT		SNV			1				ENST00000452974	protein_coding			Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF38,Superfamily_domains:SSF51445		P		T		3053/6279							YES	LCT,synonymous_variant,p.=,ENST00000264162,NM_002299.2;Y_RNA,downstream_gene_variant,,ENST00000363794,;LCT,synonymous_variant,p.=,ENST00000452974,;							LOW	3042/5784		LPH_HUMAN			Transcript			.	ENSP00000264162		CCDS2178.1			1	
CHD6	0	LGGM	GRCh37	20	40045849	40045849	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000373233.3:c.6268G>T	p.Glu2090Ter	p.E2090*	ENST00000373233	NM_032221.4	2090	Gag/Tag	0	1	1	UPI0000168656	0	NA	ENST00000373233		ENSG00000124177	19057		42	0		HGNC	p.E2090X		CHD6		SNV							ENST00000373233	protein_coding	getma.org/?cm=var&var=hg19,20,40045849,C,A&fts=all				E/*		A	NA	6446/10818		NA					YES	CHD6,stop_gained,p.Glu2090Ter,ENST00000373233,NM_032221.4;CHD6,upstream_gene_variant,,ENST00000480022,;							HIGH	6268/8148	E2090*	CHD6_HUMAN			Transcript			.	ENSP00000362330		CCDS13317.1			1	
IQGAP1	0	LGGM	GRCh37	15	91030756	91030756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000268182.5:c.4190G>T	p.Arg1397Leu	p.R1397L	ENST00000268182	NM_003870.3	1397	cGg/cTg	0	1	1	UPI000012D863	0	NA	ENST00000268182		ENSG00000140575	6110		36	2.695		HGNC	p.R825L		IQGAP1		SNV							ENST00000560738	protein_coding	getma.org/?cm=var&var=hg19,15,91030756,G,T&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15		R/L		T	medium	4314/7233		getma.org/?cm=msa&ty=f&p=IQGA1_HUMAN&rb=1238&re=1437&var=R1397L	deleterious(0)	H0YKA5_HUMAN			YES	IQGAP1,missense_variant,p.Arg1397Leu,ENST00000268182,NM_003870.3;IQGAP1,missense_variant,p.Arg825Leu,ENST00000560738,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561461,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000561132,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000559031,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000559674,;IQGAP1,downstream_gene_variant,,ENST00000558491,;IQGAP1,downstream_gene_variant,,ENST00000560218,;							MODERATE	4190/4974	R1397L	IQGA1_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000268182		CCDS10362.1			1	
C9orf156	0	LGGM	GRCh37	9	100672508	100672508	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000375119.3:c.800C>A	p.Ala267Glu	p.A267E	ENST00000375119	NM_016481.3	267	gCa/gAa	0	1	1	UPI000013D057	0	NA	ENST00000375119		ENSG00000136932	30967		49	0.895		HGNC	p.A121E	COSM3996191	C9orf156		SNV						1	ENST00000375118	protein_coding	getma.org/?cm=var&var=hg19,9,100672508,G,T&fts=all		hmmpanther:PTHR12818		A/E		T	low	877/1647		getma.org/?cm=msa&ty=f&p=NAP1_HUMAN&rb=166&re=365&var=A267E	tolerated(0.12)	Q5T114_HUMAN			YES	C9orf156,missense_variant,p.Ala121Glu,ENST00000375118,;C9orf156,missense_variant,p.Ala267Glu,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,;					1		MODERATE	800/1326	A267E	NAP1_HUMAN			Transcript		benign(0.075)	.	ENSP00000364260		CCDS6730.1			1	
GPR64	0	LGGM	GRCh37	X	19013119	19013119	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000379869.3:c.2764C>A	p.Gln922Lys	p.Q922K	ENST00000379869	NM_001079858.2	922	Caa/Aaa	0	1	1	UPI000021246C	0	NA	ENST00000379869		ENSG00000173698	4516		49	0.755		HGNC	p.Q922K		GPR64		SNV							ENST00000379869	protein_coding	getma.org/?cm=var&var=hg19,X,19013119,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011		Q/K		T	neutral	2928/4768		getma.org/?cm=msa&ty=f&p=GPR64_HUMAN&rb=876&re=1017&var=Q922K	deleterious(0.05)				YES	GPR64,missense_variant,p.Gln906Lys,ENST00000354791,;GPR64,missense_variant,p.Gln906Lys,ENST00000379878,NM_001184833.1;GPR64,missense_variant,p.Gln898Lys,ENST00000379876,NM_001184836.1,NM_001184835.1;GPR64,missense_variant,p.Gln922Lys,ENST00000379869,NM_001079858.2,NM_005756.3;GPR64,missense_variant,p.Gln900Lys,ENST00000360279,NM_001079860.2;GPR64,missense_variant,p.Gln892Lys,ENST00000357544,NM_001184837.1;GPR64,missense_variant,p.Gln919Lys,ENST00000357991,;GPR64,missense_variant,p.Gln908Lys,ENST00000356606,NM_001079859.2;GPR64,missense_variant,p.Gln803Lys,ENST00000340581,;GPR64,intron_variant,,ENST00000379873,NM_001184834.1;							MODERATE	2764/3054	Q922K	GPR64_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000369198		CCDS43923.1			1	
LRRC8E	0	LGGM	GRCh37	19	7965594	7965594	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	4	.	.	ENST00000306708.6:c.2187G>T	p.Leu729=	p.L729=	ENST00000306708	NM_025061.4	729	ctG/ctT	0	1	1	UPI0000201F4F	0		ENST00000306708		ENSG00000171017	26272		28			HGNC	p.L729L		LRRC8E		SNV							ENST00000306708	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF12799,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF250,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		T		2288/3595				M0R3C1_HUMAN,M0R2K8_HUMAN,M0R2D8_HUMAN,M0QZ48_HUMAN			YES	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,;							LOW	2187/2391		LRC8E_HUMAN			Transcript			.	ENSP00000306524		CCDS12189.1			1	
UBE2E1	0	LGGM	GRCh37	3	23848827	23848827	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	4	.	.	ENST00000306627.3:c.67G>T	p.Glu23Ter	p.E23*	ENST00000306627	NM_003341.4	23	Gag/Tag	0	1	1	UPI0000137964	0	NA	ENST00000306627		ENSG00000170142	12477		89	0		HGNC	p.E23X		UBE2E1		SNV							ENST00000442670	protein_coding	getma.org/?cm=var&var=hg19,3,23848827,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF23,Gene3D:3.10.110.10		E/*		T	NA	286/1511		NA		C9J2P0_HUMAN			YES	UBE2E1,stop_gained,p.Glu23Ter,ENST00000306627,NM_003341.4;UBE2E1,stop_gained,p.Glu23Ter,ENST00000346855,NM_182666.2;UBE2E1,stop_gained,p.Glu23Ter,ENST00000442670,;UBE2E1,upstream_gene_variant,,ENST00000424381,NM_001202476.1;UBE2E1,upstream_gene_variant,,ENST00000452012,;UBE2E1,upstream_gene_variant,,ENST00000467766,;UBE2E1-AS1,upstream_gene_variant,,ENST00000426702,;UBE2E1,non_coding_transcript_exon_variant,,ENST00000481622,;UBE2E1,upstream_gene_variant,,ENST00000475680,;UBE2E1,non_coding_transcript_exon_variant,,ENST00000484048,;UBE2E1,non_coding_transcript_exon_variant,,ENST00000495141,;							HIGH	67/582	E23*	UB2E1_HUMAN			Transcript			.	ENSP00000303709		CCDS2638.1			1	
SLC12A6	0	LGGM	GRCh37	15	34537532	34537532	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000354181.3:c.1897G>T	p.Gly633Ter	p.G633*	ENST00000354181		633	Gga/Tga	0	1	1	UPI0000135427	0	NA	ENST00000354181		ENSG00000140199	10914		46	0		HGNC	p.G633X		SLC12A6		SNV			1				ENST00000560611	protein_coding	getma.org/?cm=var&var=hg19,15,34537532,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF51,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930,Prints_domain:PR01081		G/*		A	NA	2390/4568		NA		H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	SLC12A6,stop_gained,p.Gly633Ter,ENST00000354181,;SLC12A6,stop_gained,p.Gly574Ter,ENST00000458406,NM_001042494.1;SLC12A6,stop_gained,p.Gly633Ter,ENST00000560611,NM_133647.1;SLC12A6,stop_gained,p.Gly618Ter,ENST00000397707,NM_001042497.1;SLC12A6,stop_gained,p.Gly574Ter,ENST00000397702,NM_001042495.1;SLC12A6,stop_gained,p.Gly624Ter,ENST00000558589,NM_001042496.1;SLC12A6,stop_gained,p.Gly582Ter,ENST00000290209,NM_005135.2;SLC12A6,stop_gained,p.Gly445Ter,ENST00000560164,;SLC12A6,stop_gained,p.Gly633Ter,ENST00000558667,;SLC12A6,stop_gained,p.Gly445Ter,ENST00000451844,;SLC12A6,stop_gained,p.Gly633Ter,ENST00000561080,;SLC12A6,stop_gained,p.Gly633Ter,ENST00000559664,;SLC12A6,stop_gained,p.Gly574Ter,ENST00000559523,;SLC12A6,non_coding_transcript_exon_variant,,ENST00000560023,;SLC12A6,upstream_gene_variant,,ENST00000558950,;							HIGH	1897/3453	G633*	S12A6_HUMAN			Transcript			.	ENSP00000346112		CCDS58352.1			1	
LGALS9C	0	LGGM	GRCh37	17	18394636	18394636	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000328114.6:c.626C>A	p.Ser209Tyr	p.S209Y	ENST00000328114	NM_001040078.2	209	tCt/tAt	0	1	1	UPI00006C1768	0	NA	ENST00000328114		ENSG00000171916	33874		46	0.55		HGNC	p.S209Y		LGALS9C		SNV							ENST00000328114	protein_coding	getma.org/?cm=var&var=hg19,17,18394636,C,A&fts=all		hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91		S/Y		A	neutral	707/1730		getma.org/?cm=msa&ty=f&p=LEG9C_HUMAN&rb=148&re=226&var=S209Y	deleterious(0)	C9JHN9_HUMAN			YES	LGALS9C,missense_variant,p.Ser209Tyr,ENST00000328114,NM_001040078.2;LGALS9C,missense_variant,p.Ser177Tyr,ENST00000583322,;LGALS9C,missense_variant,p.Ser177Tyr,ENST00000581545,;LGALS9C,missense_variant,p.Ser121Tyr,ENST00000412421,;LGALS9C,missense_variant,p.Ser165Tyr,ENST00000584941,;LGALS9C,intron_variant,,ENST00000582333,;LGALS9C,downstream_gene_variant,,ENST00000578983,;LGALS9C,splice_region_variant,,ENST00000584127,;LGALS9C,splice_region_variant,,ENST00000577265,;LGALS9C,splice_region_variant,,ENST00000580674,;LGALS9C,splice_region_variant,,ENST00000577691,;LGALS9C,splice_region_variant,,ENST00000579773,;LGALS9C,downstream_gene_variant,,ENST00000584170,;LGALS9C,upstream_gene_variant,,ENST00000578450,;LGALS9C,downstream_gene_variant,,ENST00000578563,;							MODERATE	626/1071	S209Y	LEG9C_HUMAN			Transcript		benign(0.284)	.	ENSP00000329932		CCDS32587.1			1	
LURAP1L	0	LGGM	GRCh37	9	12775728	12775728	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	4	.	.	ENST00000319264.3:c.14C>A	p.Pro5Gln	p.P5Q	ENST00000319264	NM_203403.1	5	cCg/cAg	0	1	1	UPI0000140566	0	NA	ENST00000319264		ENSG00000153714	31452		13	0.55		HGNC	p.P5Q		LURAP1L		SNV							ENST00000319264	protein_coding	getma.org/?cm=var&var=hg19,9,12775728,C,A&fts=all				P/Q		A	neutral	709/1753		getma.org/?cm=msa&ty=f&p=LUR1L_HUMAN&rb=1&re=200&var=P5Q	tolerated(0.79)				YES	LURAP1L,missense_variant,p.Pro5Gln,ENST00000319264,NM_203403.1;RP11-3L8.3,intron_variant,,ENST00000417638,;LURAP1L,non_coding_transcript_exon_variant,,ENST00000489107,;							MODERATE	14/687	P5Q	LUR1L_HUMAN			Transcript		benign(0.008)	.	ENSP00000321026		CCDS6473.1			1	
RHD	0	LGGM	GRCh37	1	25611226	25611226	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	4	.	.	ENST00000328664.4:c.311G>T	p.Gly104Val	p.G104V	ENST00000328664	NM_016124.3	104	gGg/gTg	0	1	1	UPI0000246EA2	0	getma.org/pdb.php?prot=RHD_HUMAN&from=15&to=406&var=G104V	ENST00000328664		ENSG00000187010	10009		23	3.06		HGNC	p.G104V		RHD		SNV			1				ENST00000568195	protein_coding	getma.org/?cm=var&var=hg19,1,25611226,G,T&fts=all		hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Pfam_domain:PF00909,Gene3D:1.10.3430.10,Superfamily_domains:0044218		G/V		T	medium	466/2930		getma.org/?cm=msa&ty=f&p=RHD_HUMAN&rb=15&re=406&var=G104V	tolerated(0.25)	T2DL33_HUMAN,Q9UEC7_HUMAN,Q9UDZ3_HUMAN,Q8NFY2_HUMAN,Q6A1H1_HUMAN,Q5NDM5_HUMAN,Q49IM6_HUMAN,P78522_HUMAN,I2HA01_HUMAN,I2HA00_HUMAN,I0CKG6_HUMAN,G0TQY3_HUMAN,E7BAS5_HUMAN,D8MJ86_HUMAN,D8MJ84_HUMAN,D2CRH1_HUMAN,B4F4S7_HUMAN,B4F4S0_HUMAN,B2ZGQ0_HUMAN,A9P3T3_HUMAN,A7Y8S3_HUMAN,A0PFK1_HUMAN			YES	RHD,missense_variant,p.Gly104Val,ENST00000328664,NM_016124.3,NM_001282867.1;RHD,missense_variant,p.Gly104Val,ENST00000423810,NM_001282872.1;RHD,missense_variant,p.Gly104Val,ENST00000342055,NM_001282871.1;RHD,missense_variant,p.Gly104Val,ENST00000568195,NM_001282870.1;RHD,missense_variant,p.Gly104Val,ENST00000357542,NM_001282869.1;RHD,missense_variant,p.Gly104Val,ENST00000417538,NM_001282868.1;RHD,missense_variant,p.Gly104Val,ENST00000454452,NM_001127691.1;C1orf63,intron_variant,,ENST00000568996,;C1orf63,intron_variant,,ENST00000561867,;RHD,non_coding_transcript_exon_variant,,ENST00000423253,;RHD,non_coding_transcript_exon_variant,,ENST00000564398,;C1orf63,intron_variant,,ENST00000473314,;							MODERATE	311/1254	G104V	RHD_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000331871		CCDS262.1			1	
CCZ1B	0	LGGM	GRCh37	7	6862975	6862975	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000316731.8:c.407C>A	p.Ser136Ter	p.S136*	ENST00000316731	NM_198097.3	136	tCg/tAg	0	1	1	UPI000006CEFF	0		ENST00000316731		ENSG00000146574	21717		47			HGNC	p.S136X		CCZ1B		SNV							ENST00000316731	protein_coding			hmmpanther:PTHR13056,Pfam_domain:PF08217		S/*		T		980/2885				Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1B,stop_gained,p.Ser136Ter,ENST00000316731,NM_198097.3;CCZ1B,5_prime_UTR_variant,,ENST00000538180,;CCZ1B,3_prime_UTR_variant,,ENST00000411858,;CCZ1B,downstream_gene_variant,,ENST00000464543,;CCZ1B,downstream_gene_variant,,ENST00000496187,;CCZ1B,downstream_gene_variant,,ENST00000486840,;CCZ1B,upstream_gene_variant,,ENST00000490178,;							HIGH	407/1449		CCZ1B_HUMAN			Transcript			.	ENSP00000314544		CCDS5354.1			1	
POMGNT2	0	LGGM	GRCh37	3	43121691	43121691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	4	.	.	ENST00000344697.2:c.1233G>T	p.Gln411His	p.Q411H	ENST00000344697	NM_032806.5	411	caG/caT	0	1	1	UPI0000037921	0	NA	ENST00000344697		ENSG00000144647	25902		24	2.215		HGNC	p.Q411H		POMGNT2		SNV			1				ENST00000344697	protein_coding	getma.org/?cm=var&var=hg19,3,43121691,C,A&fts=all		hmmpanther:PTHR20961:SF0,hmmpanther:PTHR20961		Q/H		A	medium	1579/2544		getma.org/?cm=msa&ty=f&p=AGO61_HUMAN&rb=396&re=580&var=Q411H	deleterious(0.02)				YES	POMGNT2,missense_variant,p.Gln411His,ENST00000344697,NM_032806.5;POMGNT2,missense_variant,p.Gln411His,ENST00000441964,;							MODERATE	1233/1743	Q411H	PMGT2_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000344125		CCDS2709.1			1	
HYAL3	0	LGGM	GRCh37	3	50332142	50332142	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	4	.	.	ENST00000336307.1:c.892C>A	p.Gln298Lys	p.Q298K	ENST00000336307	NM_003549.3	298	Cag/Aag	0	1	1	UPI000006E0AC	0	getma.org/pdb.php?prot=HYAL3_HUMAN&from=21&to=354&var=Q298K	ENST00000336307		ENSG00000186792	5322		30	0.795		HGNC	p.Q298K		HYAL3		SNV							ENST00000359051	protein_coding	getma.org/?cm=var&var=hg19,3,50332142,G,T&fts=all		hmmpanther:PTHR11769:SF19,hmmpanther:PTHR11769,Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF500776,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445		Q/K		T	neutral	1165/1942		getma.org/?cm=msa&ty=f&p=HYAL3_HUMAN&rb=21&re=354&var=Q298K	tolerated(0.37)	C9JB51_HUMAN			YES	HYAL3,missense_variant,p.Gln298Lys,ENST00000336307,NM_003549.3,NM_001200029.1;HYAL3,missense_variant,p.Gln298Lys,ENST00000359051,NM_001200030.1;HYAL3,missense_variant,p.Gln298Lys,ENST00000450982,;HYAL3,missense_variant,p.Gln49Lys,ENST00000415204,NM_001200031.1;HYAL3,missense_variant,p.Gln49Lys,ENST00000513170,NM_001200032.1;IFRD2,upstream_gene_variant,,ENST00000436390,;IFRD2,upstream_gene_variant,,ENST00000336089,;IFRD2,upstream_gene_variant,,ENST00000417626,NM_006764.4;IFRD2,upstream_gene_variant,,ENST00000429673,;NAT6,downstream_gene_variant,,ENST00000443842,;NAT6,downstream_gene_variant,,ENST00000443094,NM_001200016.1;NAT6,downstream_gene_variant,,ENST00000354862,NM_012191.3;NAT6,downstream_gene_variant,,ENST00000417393,NM_001200018.1;NAT6,downstream_gene_variant,,ENST00000442620,;NAT6,downstream_gene_variant,,ENST00000450489,;NAT6,downstream_gene_variant,,ENST00000452674,;HYAL3,downstream_gene_variant,,ENST00000435141,;IFRD2,upstream_gene_variant,,ENST00000484043,;IFRD2,upstream_gene_variant,,ENST00000468737,;IFRD2,upstream_gene_variant,,ENST00000474556,;IFRD2,upstream_gene_variant,,ENST00000414734,;IFRD2,upstream_gene_variant,,ENST00000489569,;IFRD2,upstream_gene_variant,,ENST00000438296,;IFRD2,upstream_gene_variant,,ENST00000462001,;IFRD2,upstream_gene_variant,,ENST00000483071,;							MODERATE	892/1254	Q298K	HYAL3_HUMAN			Transcript		benign(0.042)	.	ENSP00000337425		CCDS2815.1			1	
C10orf12	0	LGGM	GRCh37	10	98741447	98741447	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000286067.2:c.300C>A	p.Pro100=	p.P100=	ENST00000286067	NM_015652.2	100	ccC/ccA	0	1	1	UPI000006F242	0		ENST00000286067		ENSG00000155640	23420		44			HGNC	p.P100P		C10orf12		SNV							ENST00000286067	protein_coding			hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2		P		A		407/4542							YES	C10orf12,synonymous_variant,p.=,ENST00000286067,NM_015652.2;LCOR,downstream_gene_variant,,ENST00000498444,;							LOW	300/3744		CJ012_HUMAN			Transcript			.	ENSP00000286067		CCDS7452.1			1	
RPL28	0	LGGM	GRCh37	19	55899356	55899356	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	4	.	.	ENST00000558815.1:c.264C>A	p.Ala88=	p.A88=	ENST00000558815	NM_001136135.1	88	gcC/gcA	0	1		UPI000013C85B	0		ENST00000344063		ENSG00000108107	10330		33			HGNC	p.P82Q	COSM4132614,COSM4132612,COSM4132613	RPL28		SNV						1,1,1	ENST00000558131	protein_coding			Pfam_domain:PF01778,hmmpanther:PTHR10544,hmmpanther:PTHR10544:SF0		A		A		893/4796				O60251_HUMAN				RPL28,missense_variant,p.Pro82Gln,ENST00000558131,;RPL28,synonymous_variant,p.=,ENST00000344063,;RPL28,synonymous_variant,p.=,ENST00000560583,NM_001136134.1;RPL28,synonymous_variant,p.=,ENST00000559463,;RPL28,synonymous_variant,p.=,ENST00000560055,;RPL28,synonymous_variant,p.=,ENST00000558815,NM_001136135.1,NM_000991.4;RPL28,synonymous_variant,p.=,ENST00000458349,;TMEM238,upstream_gene_variant,,ENST00000444469,NM_001190764.1;RPL28,downstream_gene_variant,,ENST00000558752,;RPL28,downstream_gene_variant,,ENST00000431533,NM_001136136.1;RPL28,downstream_gene_variant,,ENST00000428193,NM_001136137.1;RPL28,non_coding_transcript_exon_variant,,ENST00000426763,;RPL28,non_coding_transcript_exon_variant,,ENST00000560881,;					1,1,1		LOW	264/414		RL28_HUMAN			Transcript			.	ENSP00000342787		CCDS12924.1			1	
KRT8P11	0	LGGM	GRCh37	9	102068265	102068265	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000539942.1:n.872G>T		*291*	ENST00000539942				0	1	1		0		ENST00000539942		ENSG00000255815	31058		34			HGNC	p.R291L		KRT8P11		SNV							ENST00000409686	processed_pseudogene							T		872/1500							YES	KRT8P11,non_coding_transcript_exon_variant,,ENST00000539942,;KRT8P11,non_coding_transcript_exon_variant,,ENST00000409686,;							MODIFIER						Transcript			.						1	
RNF222	0	LGGM	GRCh37	17	8296636	8296636	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	1	4	.	.	ENST00000399398.2:c.144C>A	p.Ser48=	p.S48=	ENST00000399398	NM_001146684.2	48	tcC/tcA	0	1		UPI00006C175E	0		ENST00000344001		ENSG00000189051	34517		5			HGNC	p.S48S		RNF222		SNV							ENST00000344001	protein_coding			Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR23041,hmmpanther:PTHR23041:SF55,SMART_domains:SM00184,Superfamily_domains:SSF57850		S		T		172/2786								RNF222,synonymous_variant,p.=,ENST00000399398,NM_001146684.2;RNF222,synonymous_variant,p.=,ENST00000344001,;							LOW	144/663		RN222_HUMAN			Transcript			.	ENSP00000343799		CCDS45608.1			1	
DCHS2	0	LGGM	GRCh37	4	155156674	155156674	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000357232.4:c.7765C>A	p.Arg2589=	p.R2589=	ENST00000357232	NM_017639.3	2589	Cgg/Agg	0	1	1	UPI000035B018	0		ENST00000357232		ENSG00000197410	23111		45			HGNC	p.R2589R		DCHS2		SNV							ENST00000357232	protein_coding			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257		R		T		7765/11040				B3KT73_HUMAN			YES	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;							LOW	7765/8751		PCD23_HUMAN			Transcript			.	ENSP00000349768		CCDS3785.1			1	
LSAMP	0	LGGM	GRCh37	3	115805356	115805356	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000490035.2:c.203C>A	p.Ser68Tyr	p.S68Y	ENST00000490035	NM_002338.3	68	tCt/tAt	0	1	1	UPI00000746A0	0	getma.org/pdb.php?prot=LSAMP_HUMAN&from=32&to=128&var=S68Y	ENST00000490035		ENSG00000185565	6705		50	2.815		HGNC	p.S102Y		LSAMP		SNV							ENST00000474851	protein_coding	getma.org/?cm=var&var=hg19,3,115805356,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19831:SF10,hmmpanther:PTHR19831,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		S/Y		T	medium	703/9446		getma.org/?cm=msa&ty=f&p=LSAMP_HUMAN&rb=32&re=128&var=S68Y	deleterious(0)				YES	LSAMP,missense_variant,p.Ser68Tyr,ENST00000490035,NM_002338.3;LSAMP,missense_variant,p.Ser52Tyr,ENST00000333617,;LSAMP,missense_variant,p.Ser65Tyr,ENST00000539563,;LSAMP,missense_variant,p.Ser102Tyr,ENST00000474851,;							MODERATE	203/1017	S68Y	LSAMP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000419000		CCDS2982.1			1	
SYBU	0	LGGM	GRCh37	8	110655058	110655058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000422135.1:c.128C>A	p.Pro43Gln	p.P43Q	ENST00000422135	NM_001099744.1	43	cCa/cAa	0	1		UPI00000407AB	0	NA	ENST00000276646		ENSG00000147642	26011		45	2.175		HGNC	p.P48Q		SYBU		SNV							ENST00000424158	protein_coding	getma.org/?cm=var&var=hg19,8,110655058,G,T&fts=all		hmmpanther:PTHR16208,hmmpanther:PTHR16208:SF4,Low_complexity_(Seg):seg		P/Q		T	medium	286/2870		getma.org/?cm=msa&ty=f&p=SYBU_HUMAN&rb=3&re=661&var=P43Q	deleterious(0.04)	E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN				SYBU,missense_variant,p.Pro40Gln,ENST00000399066,NM_001099756.1;SYBU,missense_variant,p.Pro42Gln,ENST00000533895,;SYBU,missense_variant,p.Pro43Gln,ENST00000422135,NM_001099744.1;SYBU,missense_variant,p.Pro42Gln,ENST00000419099,NM_001099743.1;SYBU,missense_variant,p.Pro43Gln,ENST00000433638,NM_017786.5,NM_001099750.1;SYBU,missense_variant,p.Pro43Gln,ENST00000440310,NM_001099752.1,NM_001099751.1;SYBU,missense_variant,p.Pro48Gln,ENST00000424158,;SYBU,missense_variant,p.Pro42Gln,ENST00000528647,;SYBU,missense_variant,p.Pro43Gln,ENST00000408908,NM_001099748.1,NM_001099747.1;SYBU,missense_variant,p.Pro42Gln,ENST00000446070,;SYBU,missense_variant,p.Pro43Gln,ENST00000276646,NM_001099754.1,NM_001099753.1;SYBU,missense_variant,p.Pro43Gln,ENST00000533171,NM_001099745.1;SYBU,missense_variant,p.Pro42Gln,ENST00000529190,;SYBU,missense_variant,p.Pro43Gln,ENST00000524720,;SYBU,missense_variant,p.Pro43Gln,ENST00000534501,;SYBU,missense_variant,p.Pro42Gln,ENST00000534184,;SYBU,missense_variant,p.Pro43Gln,ENST00000526302,;SYBU,missense_variant,p.Pro42Gln,ENST00000533821,;SYBU,missense_variant,p.Pro43Gln,ENST00000528716,;SYBU,missense_variant,p.Pro43Gln,ENST00000527600,;SYBU,missense_variant,p.Pro43Gln,ENST00000534578,;SYBU,intron_variant,,ENST00000408889,NM_001099746.1;SYBU,intron_variant,,ENST00000532779,;SYBU,intron_variant,,ENST00000533065,NM_001099755.1;SYBU,intron_variant,,ENST00000528331,NM_001099749.1;SYBU,intron_variant,,ENST00000532189,;SYBU,intron_variant,,ENST00000528045,;SYBU,intron_variant,,ENST00000528569,;SYBU,intron_variant,,ENST00000530841,;SYBU,intron_variant,,ENST00000531230,;RP11-422N16.3,upstream_gene_variant,,ENST00000499579,;SYBU,intron_variant,,ENST00000527664,;SYBU,non_coding_transcript_exon_variant,,ENST00000531284,;							MODERATE	128/1992	P43Q	SYBU_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276646		CCDS47912.1			1	
MAT2B	0	LGGM	GRCh37	5	162943615	162943615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000321757.6:c.618C>A	p.Phe206Leu	p.F206L	ENST00000321757	NM_013283.4	206	ttC/ttA	0	1	1	UPI0000037B81	0	getma.org/pdb.php?prot=MAT2B_HUMAN&from=29&to=324&var=F206L	ENST00000321757		ENSG00000038274	6905		43	-0.625		HGNC	p.F141L		MAT2B		SNV							ENST00000421814	protein_coding	getma.org/?cm=var&var=hg19,5,162943615,C,A&fts=all		hmmpanther:PTHR10491,hmmpanther:PTHR10491:SF2,Gene3D:3.40.50.720,Pfam_domain:PF04321,Superfamily_domains:SSF51735		F/L		A	neutral	757/2103		getma.org/?cm=msa&ty=f&p=MAT2B_HUMAN&rb=29&re=324&var=F206L	tolerated(0.65)				YES	MAT2B,missense_variant,p.Phe206Leu,ENST00000518095,;MAT2B,missense_variant,p.Phe195Leu,ENST00000280969,NM_182796.2;MAT2B,missense_variant,p.Phe206Leu,ENST00000321757,NM_013283.4;MAT2B,missense_variant,p.Phe141Leu,ENST00000421814,;MAT2B,upstream_gene_variant,,ENST00000521838,;MAT2B,3_prime_UTR_variant,,ENST00000520449,;MAT2B,non_coding_transcript_exon_variant,,ENST00000523606,;MAT2B,downstream_gene_variant,,ENST00000519719,;							MODERATE	618/1005	F206L	MAT2B_HUMAN			Transcript		benign(0.172)	.	ENSP00000325425		CCDS4365.1			1	
ALPK2	0	LGGM	GRCh37	18	56203321	56203321	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000361673.3:c.4098G>T	p.Lys1366Asn	p.K1366N	ENST00000361673	NM_052947.3	1366	aaG/aaT	0	1	1	UPI000022A768	0	NA	ENST00000361673		ENSG00000198796	20565		36	1.15		HGNC	p.K1366N		ALPK2		SNV							ENST00000361673	protein_coding	getma.org/?cm=var&var=hg19,18,56203321,C,A&fts=all		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6		K/N		A	low	4312/7303		getma.org/?cm=msa&ty=f&p=ALPK2_HUMAN&rb=667&re=1783&var=K1366N	deleterious(0.04)				YES	ALPK2,missense_variant,p.Lys1366Asn,ENST00000361673,NM_052947.3;RP11-1151B14.4,intron_variant,,ENST00000591360,;ALPK2,downstream_gene_variant,,ENST00000587842,;ALPK2,non_coding_transcript_exon_variant,,ENST00000589204,;							MODERATE	4098/6513	K1366N	ALPK2_HUMAN			Transcript		benign(0.041)	.	ENSP00000354991		CCDS11966.2			1	
COL7A1	0	LGGM	GRCh37	3	48628108	48628108	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000328333.8:c.1778G>T	p.Arg593Leu	p.R593L	ENST00000328333	NM_000094.3	593	cGg/cTg	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		38	0.55		HGNC	p.R593L		COL7A1		SNV			1				ENST00000454817	protein_coding	getma.org/?cm=var&var=hg19,3,48628108,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR24023		R/L		A	neutral	1886/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=507&re=593&var=R593L					YES	COL7A1,missense_variant,p.Arg593Leu,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Arg593Leu,ENST00000454817,;							MODERATE	1778/8835	R593L	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
SLC5A11	0	LGGM	GRCh37	16	24921723	24921723	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	4	.	.	ENST00000347898.3:c.1747G>T	p.Gly583Trp	p.G583W	ENST00000347898	NM_052944.3	583	Ggg/Tgg	0	1	1	UPI0000036161	0	NA	ENST00000347898		ENSG00000158865	23091		39	1.585		HGNC	p.G519W		SLC5A11		SNV							ENST00000565769	protein_coding	getma.org/?cm=var&var=hg19,16,24921723,G,T&fts=all		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF127		G/W		T	low	2369/2745		getma.org/?cm=msa&ty=f&p=SC5AB_HUMAN&rb=488&re=675&var=G583W	deleterious(0.02)	H3BN85_HUMAN			YES	SLC5A11,missense_variant,p.Gly583Trp,ENST00000347898,NM_052944.3;SLC5A11,missense_variant,p.Gly548Trp,ENST00000424767,NM_001258411.1;SLC5A11,missense_variant,p.Gly548Trp,ENST00000567758,;SLC5A11,missense_variant,p.Gly519Trp,ENST00000565769,NM_001258413.1;SLC5A11,missense_variant,p.Gly513Trp,ENST00000545376,NM_001258412.1;SLC5A11,missense_variant,p.Gly513Trp,ENST00000568579,;SLC5A11,missense_variant,p.Gly519Trp,ENST00000539472,;SLC5A11,missense_variant,p.Gly427Trp,ENST00000449109,NM_001258414.1;SLC5A11,missense_variant,p.Gly427Trp,ENST00000569071,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;							MODERATE	1747/2028	G583W	SC5AB_HUMAN			Transcript		benign(0.016)	.	ENSP00000289932		CCDS10625.1			1	
EDIL3	0	LGGM	GRCh37	5	83550009	83550009	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000296591.5:c.89C>A	p.Pro30Gln	p.P30Q	ENST00000296591	NM_005711.4	30	cCa/cAa	0	1	1	UPI000004D126	0	getma.org/pdb.php?prot=EDIL3_HUMAN&from=26&to=58&var=P30Q	ENST00000296591		ENSG00000164176	3173		47	2.07		HGNC	p.P30Q		EDIL3		SNV							ENST00000380138	protein_coding	getma.org/?cm=var&var=hg19,5,83550009,G,T&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Pfam_domain:PF00008,Gene3D:2.10.25.10,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50026		P/Q		T	medium	508/4727		getma.org/?cm=msa&ty=f&p=EDIL3_HUMAN&rb=26&re=58&var=P30Q	tolerated(0.34)				YES	EDIL3,missense_variant,p.Pro30Gln,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Pro30Gln,ENST00000380138,NM_001278642.1;							MODERATE	89/1443	P30Q	EDIL3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000296591		CCDS4062.1			1	
C21orf128	0	LGGM	GRCh37	21	43524052	43524052	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	4	.	.	ENST00000329015.2:c.181G>T	p.Glu61Ter	p.E61*	ENST00000329015		61	Gag/Tag	0	1	1	UPI000006FBA4	0		ENST00000329015		ENSG00000184385	23821		17			HGNC	p.E61X		C21orf128		SNV							ENST00000329015	protein_coding					E/*		A		333/2141							YES	C21orf128,stop_gained,p.Glu61Ter,ENST00000329015,;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;UMODL1,3_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,;							HIGH	181/489		CU128_HUMAN			Transcript			.	ENSP00000328495					1	
XRCC6BP1	0	LGGM	GRCh37	12	58347418	58347418	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000300145.3:c.483C>A	p.Cys161Ter	p.C161*	ENST00000300145	NM_033276.2	161	tgC/tgA	0	1	1	UPI0000037720	0	NA	ENST00000300145		ENSG00000166896	29452		40	0		HGNC	p.C161X		XRCC6BP1		SNV							ENST00000300145	protein_coding	getma.org/?cm=var&var=hg19,12,58347418,C,A&fts=all		Pfam_domain:PF09768,hmmpanther:PTHR21711,hmmpanther:PTHR21711:SF0		C/*		A	NA	608/1245		NA					YES	XRCC6BP1,stop_gained,p.Cys161Ter,ENST00000300145,NM_033276.2;XRCC6BP1,non_coding_transcript_exon_variant,,ENST00000546709,;XRCC6BP1,downstream_gene_variant,,ENST00000551997,;XRCC6BP1,3_prime_UTR_variant,,ENST00000549257,;							HIGH	483/741	C161*	ATP23_HUMAN			Transcript			.	ENSP00000300145		CCDS41802.1			1	
ALAS2	0	LGGM	GRCh37	X	55047542	55047542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	4	.	.	ENST00000330807.5:c.581G>T	p.Trp194Leu	p.W194L	ENST00000330807	NM_000032.4	194	tGg/tTg	0	1	1	UPI000012C3FE	0	getma.org/pdb.php?prot=HEM0_HUMAN&from=189&to=536&var=W194L	ENST00000330807		ENSG00000158578	397		25	1.155		HGNC	p.W194L		ALAS2		SNV			1				ENST00000330807	protein_coding	getma.org/?cm=var&var=hg19,X,55047542,C,A&fts=all		Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01821,Pfam_domain:PF00155,hmmpanther:PTHR13693:SF58,hmmpanther:PTHR13693		W/L		A	low	719/2027		getma.org/?cm=msa&ty=f&p=HEM0_HUMAN&rb=189&re=536&var=W194L	deleterious(0)	Q9H366_HUMAN,Q6QNT2_HUMAN			YES	ALAS2,missense_variant,p.Trp194Leu,ENST00000330807,NM_000032.4;ALAS2,missense_variant,p.Trp181Leu,ENST00000396198,NM_001037968.3;ALAS2,missense_variant,p.Trp157Leu,ENST00000335854,NM_001037967.3;ALAS2,missense_variant,p.Trp146Leu,ENST00000455688,;ALAS2,non_coding_transcript_exon_variant,,ENST00000493869,;ALAS2,non_coding_transcript_exon_variant,,ENST00000477869,;ALAS2,intron_variant,,ENST00000463868,;ALAS2,upstream_gene_variant,,ENST00000498636,;							MODERATE	581/1764	W194L	HEM0_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332369		CCDS14366.1			1	
YIPF3	0	LGGM	GRCh37	6	43480290	43480290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	8	4	.	.	ENST00000372422.2:c.792G>T	p.Leu264Phe	p.L264F	ENST00000372422	NM_015388.3	264	ttG/ttT	0	1	1	UPI0000037775	0	NA	ENST00000372422		ENSG00000137207	21023		12	1.7		HGNC	p.L230F		YIPF3		SNV							ENST00000503972	protein_coding	getma.org/?cm=var&var=hg19,6,43480290,C,A&fts=all		hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14		L/F		A	low	975/1576		getma.org/?cm=msa&ty=f&p=YIPF3_HUMAN&rb=1&re=300&var=L264F	tolerated(0.12)	Q5JTD5_HUMAN,D6RGY8_HUMAN			YES	YIPF3,missense_variant,p.Leu264Phe,ENST00000372422,NM_015388.3;YIPF3,missense_variant,p.Leu270Phe,ENST00000506469,;YIPF3,missense_variant,p.Leu230Phe,ENST00000503972,;POLR1C,intron_variant,,ENST00000428025,;LRRC73,upstream_gene_variant,,ENST00000372441,NM_001271882.1,NM_001012974.2;POLR1C,upstream_gene_variant,,ENST00000372389,NM_203290.2;POLR1C,upstream_gene_variant,,ENST00000304004,;POLR1C,upstream_gene_variant,,ENST00000372344,;YIPF3,downstream_gene_variant,,ENST00000511831,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,downstream_gene_variant,,ENST00000500090,;YIPF3,3_prime_UTR_variant,,ENST00000460547,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,non_coding_transcript_exon_variant,,ENST00000514627,;YIPF3,non_coding_transcript_exon_variant,,ENST00000503147,;YIPF3,non_coding_transcript_exon_variant,,ENST00000512713,;POLR1C,upstream_gene_variant,,ENST00000455605,;POLR1C,upstream_gene_variant,,ENST00000481352,;YIPF3,downstream_gene_variant,,ENST00000416380,;POLR1C,upstream_gene_variant,,ENST00000488601,;YIPF3,downstream_gene_variant,,ENST00000455768,;YIPF3,downstream_gene_variant,,ENST00000502714,;YIPF3,downstream_gene_variant,,ENST00000460903,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,downstream_gene_variant,,ENST00000372417,;YIPF3,downstream_gene_variant,,ENST00000488966,;							MODERATE	792/1053	L264F	YIPF3_HUMAN			Transcript		benign(0.127)	.	ENSP00000361499		CCDS4899.1			1	
COX4I2	0	LGGM	GRCh37	20	30231330	30231330	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	4	.	.	ENST00000376075.3:c.371G>T	p.Arg124Leu	p.R124L	ENST00000376075	NM_032609.2	124	cGg/cTg	0	1	1	UPI000013CDC9	0	getma.org/pdb.php?prot=COX42_HUMAN&from=33&to=170&var=R124L	ENST00000376075		ENSG00000131055	16232		25	2.22		HGNC	p.R124L		COX4I2		SNV			1				ENST00000376075	protein_coding	getma.org/?cm=var&var=hg19,20,30231330,G,T&fts=all		Superfamily_domains:0041782,Gene3D:1v54D00,Pfam_domain:PF02936,hmmpanther:PTHR10707,hmmpanther:PTHR10707:SF7,Transmembrane_helices:TMhelix		R/L		T	medium	446/693		getma.org/?cm=msa&ty=f&p=COX42_HUMAN&rb=33&re=170&var=R124L	deleterious(0)	H6SG14_HUMAN			YES	COX4I2,missense_variant,p.Arg124Leu,ENST00000376075,NM_032609.2;COX4I2,intron_variant,,ENST00000490030,;							MODERATE	371/516	R124L	COX42_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000365243		CCDS13187.1			1	
FBN1	0	LGGM	GRCh37	15	48766757	48766757	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000316623.5:c.4055C>A	p.Pro1352His	p.P1352H	ENST00000316623	NM_000138.4	1352	cCc/cAc	0	1	1	UPI0000163B0B	0	getma.org/pdb.php?prot=FBN1_HUMAN&from=1322&to=1361&var=P1352H	ENST00000316623		ENSG00000166147	3603		42	2.3		HGNC	p.P1352H		FBN1		SNV			1				ENST00000316623	protein_coding	getma.org/?cm=var&var=hg19,15,48766757,G,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		P/H		T	medium	4511/11756		getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=1322&re=1361&var=P1352H		Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,missense_variant,p.Pro1352His,ENST00000316623,NM_000138.4;FBN1,missense_variant,p.Pro243Thr,ENST00000537463,;							MODERATE	4055/8616	P1352H	FBN1_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000325527		CCDS32232.1			1	
AC007956.1	0	LGGM	GRCh37	14	75158921	75158921	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000338772.5:c.369C>A	p.Pro123=	p.P123=	ENST00000338772		123	ccC/ccA	0	1	1	UPI000000CC87	0		ENST00000338772		ENSG00000214670			49			Clone_based_ensembl_gene	p.P123P		AC007956.1		SNV							ENST00000338772	protein_coding			hmmpanther:PTHR16253,hmmpanther:PTHR16253:SF3		P		T		369/411				Q86TS6_HUMAN			YES	AC007956.1,synonymous_variant,p.=,ENST00000338772,;AREL1,5_prime_UTR_variant,,ENST00000356357,NM_001039479.1;AREL1,5_prime_UTR_variant,,ENST00000556202,;AREL1,intron_variant,,ENST00000555249,;AREL1,non_coding_transcript_exon_variant,,ENST00000557401,;AREL1,non_coding_transcript_exon_variant,,ENST00000556589,;AREL1,non_coding_transcript_exon_variant,,ENST00000556860,;AREL1,non_coding_transcript_exon_variant,,ENST00000473934,;AREL1,non_coding_transcript_exon_variant,,ENST00000554525,;AREL1,non_coding_transcript_exon_variant,,ENST00000469797,;							LOW	369/411					Transcript			.	ENSP00000340964					1	
DMAP1	0	LGGM	GRCh37	1	44680412	44680412	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	4	.	.	ENST00000372289.2:c.235G>T	p.Gly79Ter	p.G79*	ENST00000372289	NM_019100.4	79	Gga/Tga	0	1		UPI00001294C6	0	NA	ENST00000315913		ENSG00000178028	18291		30	0		HGNC	p.G79X		DMAP1		SNV							ENST00000315913	protein_coding	getma.org/?cm=var&var=hg19,1,44680412,G,T&fts=all		hmmpanther:PTHR12855,hmmpanther:PTHR12855:SF10		G/*		T	NA	320/1552		NA		Q5TG40_HUMAN,Q5TG38_HUMAN,B4DQG8_HUMAN				DMAP1,stop_gained,p.Gly79Ter,ENST00000372289,NM_019100.4;DMAP1,stop_gained,p.Gly79Ter,ENST00000315913,;DMAP1,stop_gained,p.Gly79Ter,ENST00000361745,NM_001034023.1,NM_001034024.1;DMAP1,stop_gained,p.Gly79Ter,ENST00000446292,;DMAP1,stop_gained,p.Gly105Ter,ENST00000437511,;DMAP1,stop_gained,p.Gly79Ter,ENST00000440641,;DMAP1,stop_gained,p.Gly105Ter,ENST00000436069,;DMAP1,stop_gained,p.Gly50Ter,ENST00000372290,;DMAP1,non_coding_transcript_exon_variant,,ENST00000471829,;DMAP1,non_coding_transcript_exon_variant,,ENST00000487922,;DMAP1,non_coding_transcript_exon_variant,,ENST00000475794,;DMAP1,upstream_gene_variant,,ENST00000488433,;DMAP1,upstream_gene_variant,,ENST00000494092,;DMAP1,upstream_gene_variant,,ENST00000483741,;DMAP1,downstream_gene_variant,,ENST00000463950,;							HIGH	235/1404	G79*	DMAP1_HUMAN			Transcript			.	ENSP00000312697		CCDS509.1			1	
DALRD3	0	LGGM	GRCh37	3	49053485	49053485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000341949.4:c.1364C>A	p.Pro455His	p.P455H	ENST00000341949	NM_001009996.2	455	cCc/cAc	0	1	1	UPI00000622F0	0	NA	ENST00000341949		ENSG00000178149	25536		37	1.67		HGNC	p.P455H		DALRD3		SNV							ENST00000341949	protein_coding	getma.org/?cm=var&var=hg19,3,49053485,G,T&fts=all		Gene3D:1.10.730.10,Pfam_domain:PF05746,hmmpanther:PTHR16043,hmmpanther:PTHR16043:SF0,SMART_domains:SM00836,Superfamily_domains:SSF47323		P/H		T	low	1371/1739		getma.org/?cm=msa&ty=f&p=DALD3_HUMAN&rb=403&re=543&var=P455H	deleterious(0)				YES	DALRD3,missense_variant,p.Pro288His,ENST00000440857,;DALRD3,missense_variant,p.Pro288His,ENST00000313778,NM_018114.5;DALRD3,missense_variant,p.Pro455His,ENST00000341949,NM_001009996.2;DALRD3,missense_variant,p.Pro288His,ENST00000395462,;DALRD3,missense_variant,p.Pro102His,ENST00000438585,;DALRD3,synonymous_variant,p.=,ENST00000441576,NM_001276405.1;WDR6,downstream_gene_variant,,ENST00000395474,NM_018031.3;WDR6,downstream_gene_variant,,ENST00000608424,;WDR6,downstream_gene_variant,,ENST00000448293,;NDUFAF3,upstream_gene_variant,,ENST00000326925,NM_199069.1;WDR6,downstream_gene_variant,,ENST00000415265,;DALRD3,downstream_gene_variant,,ENST00000420952,;WDR6,downstream_gene_variant,,ENST00000438660,;NDUFAF3,upstream_gene_variant,,ENST00000326912,NM_199074.1;WDR6,downstream_gene_variant,,ENST00000489427,;WDR6,downstream_gene_variant,,ENST00000429900,;WDR6,downstream_gene_variant,,ENST00000419837,;WDR6,downstream_gene_variant,,ENST00000491365,;MIR191,downstream_gene_variant,,ENST00000384873,;MIR425,downstream_gene_variant,,ENST00000362162,;WDR6,downstream_gene_variant,,ENST00000489684,;DALRD3,downstream_gene_variant,,ENST00000496568,;DALRD3,downstream_gene_variant,,ENST00000492585,;WDR6,downstream_gene_variant,,ENST00000472878,;WDR6,downstream_gene_variant,,ENST00000461687,;DALRD3,non_coding_transcript_exon_variant,,ENST00000498794,;DALRD3,non_coding_transcript_exon_variant,,ENST00000460505,;DALRD3,non_coding_transcript_exon_variant,,ENST00000484831,;DALRD3,non_coding_transcript_exon_variant,,ENST00000467457,;DALRD3,non_coding_transcript_exon_variant,,ENST00000498498,;DALRD3,non_coding_transcript_exon_variant,,ENST00000472331,;DALRD3,non_coding_transcript_exon_variant,,ENST00000481001,;WDR6,downstream_gene_variant,,ENST00000452875,;WDR6,downstream_gene_variant,,ENST00000420783,;WDR6,downstream_gene_variant,,ENST00000471162,;WDR6,downstream_gene_variant,,ENST00000498023,;WDR6,downstream_gene_variant,,ENST00000488572,;WDR6,downstream_gene_variant,,ENST00000462064,;WDR6,downstream_gene_variant,,ENST00000473238,;WDR6,downstream_gene_variant,,ENST00000492780,;							MODERATE	1364/1632	P455H	DALD3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000344989		CCDS33754.1			1	
ADCY8	0	LGGM	GRCh37	8	132052116	132052116	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	4	.	.	ENST00000286355.5:c.464C>A	p.Pro155His	p.P155H	ENST00000286355	NM_001115.2	155	cCc/cAc	0	1	1	UPI000012887C	0	NA	ENST00000286355		ENSG00000155897	239		23	1.83		HGNC	p.P155H		ADCY8		SNV							ENST00000377928	protein_coding	getma.org/?cm=var&var=hg19,8,132052116,G,T&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229		P/H		T	low	2557/5938		getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=1&re=200&var=P155H	deleterious(0)	E5RFR2_HUMAN			YES	ADCY8,missense_variant,p.Pro155His,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Pro155His,ENST00000377928,;							MODERATE	464/3756	P155H	ADCY8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000286355		CCDS6363.1			1	
CCNE1	0	LGGM	GRCh37	19	30308048	30308048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000262643.3:c.185G>T	p.Trp62Leu	p.W62L	ENST00000262643	NM_001238.2	62	tGg/tTg	0	1	1	UPI0000001C33	0	NA	ENST00000262643		ENSG00000105173	1589		47	1.975		HGNC	p.W47L		CCNE1		SNV							ENST00000444983	protein_coding	getma.org/?cm=var&var=hg19,19,30308048,G,T&fts=all		PIRSF_domain:PIRSF001771,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF71		W/L		T	medium	464/2043		getma.org/?cm=msa&ty=f&p=CCNE1_HUMAN&rb=1&re=114&var=W62L	tolerated(0.07)	F6KX26_HUMAN			YES	CCNE1,missense_variant,p.Trp62Leu,ENST00000262643,NM_001238.2;CCNE1,missense_variant,p.Trp62Leu,ENST00000357943,;CCNE1,missense_variant,p.Trp47Leu,ENST00000444983,;CCNE1,missense_variant,p.Trp59Leu,ENST00000575243,;CCNE1,upstream_gene_variant,,ENST00000576532,;CCNE1,upstream_gene_variant,,ENST00000574121,;CCNE1,downstream_gene_variant,,ENST00000586912,;							MODERATE	185/1233	W62L	CCNE1_HUMAN			Transcript		benign(0.004)	.	ENSP00000262643		CCDS12419.1			1	
TGM6	0	LGGM	GRCh37	20	2378652	2378652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000202625.2:c.632G>T	p.Arg211Leu	p.R211L	ENST00000202625	NM_198994.2	211	cGc/cTc	0	1	1	UPI0000367011	0	getma.org/pdb.php?prot=TGM3L_HUMAN&from=122&to=251&var=R211L	ENST00000202625		ENSG00000166948	16255		34	2.96		HGNC	p.R211L		TGM6		SNV			1				ENST00000202625	protein_coding	getma.org/?cm=var&var=hg19,20,2378652,G,T&fts=all		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001		R/L		T	medium	693/2292		getma.org/?cm=msa&ty=f&p=TGM3L_HUMAN&rb=122&re=251&var=R211L	deleterious(0)				YES	TGM6,missense_variant,p.Arg211Leu,ENST00000202625,NM_198994.2;TGM6,missense_variant,p.Arg211Leu,ENST00000381423,NM_001254734.1;TGM6,non_coding_transcript_exon_variant,,ENST00000477505,;							MODERATE	632/2121	R211L	TGM3L_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000202625		CCDS13025.1			1	
TTN	0	LGGM	GRCh37	2	179642195	179642195	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000589042.1:c.4597C>A	p.Gln1533Lys	p.Q1533K	ENST00000589042	NM_001267550.1	1533	Caa/Aaa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=1457&to=1547&var=Q1533K	ENST00000591111		ENSG00000155657	12403		47	0.52		HGNC	p.Q1487K		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179642195,G,T&fts=all		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		Q/K		T	neutral	4822/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=1457&re=1547&var=Q1533K		C9JQJ2_HUMAN				TTN,missense_variant,p.Gln1533Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gln1533Lys,ENST00000591111,;TTN,missense_variant,p.Gln1533Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Gln1487Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Gln1487Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Gln1487Lys,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Gln1533Lys,ENST00000360870,NM_133379.4;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;							MODERATE	4597/103053	Q1533K	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SAMD9L	0	LGGM	GRCh37	7	92762393	92762393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000318238.4:c.2892G>T	p.Met964Ile	p.M964I	ENST00000318238	NM_152703.2	964	atG/atT	0	1	1	UPI000020F567	0	NA	ENST00000318238		ENSG00000177409	1349		50	2.045		HGNC	p.M964I		SAMD9L		SNV							ENST00000411955	protein_coding	getma.org/?cm=var&var=hg19,7,92762393,C,A&fts=all		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		M/I		A	medium	4109/7134		getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=M964I	deleterious(0.04)	B4E3M1_HUMAN			YES	SAMD9L,missense_variant,p.Met964Ile,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Met964Ile,ENST00000411955,;SAMD9L,missense_variant,p.Met964Ile,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;							MODERATE	2892/4755	M964I	SAM9L_HUMAN			Transcript		benign(0.17)	.	ENSP00000326247		CCDS34681.1			1	
UBTF	0	LGGM	GRCh37	17	42289792	42289792	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000302904.4:c.691G>T	p.Gly231Trp	p.G231W	ENST00000302904		231	Ggg/Tgg	0	1	1	UPI000013797C	0	getma.org/pdb.php?prot=UBF1_HUMAN&from=196&to=264&var=G231W	ENST00000302904		ENSG00000108312	12511		32	1.7		HGNC	p.G231W		UBTF		SNV							ENST00000436088	protein_coding	getma.org/?cm=var&var=hg19,17,42289792,C,A&fts=all		Gene3D:1.10.30.10,Pfam_domain:PF00505,PROSITE_profiles:PS50118,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF142,SMART_domains:SM00398,Superfamily_domains:SSF47095		G/W		A	low	1184/4997		getma.org/?cm=msa&ty=f&p=UBF1_HUMAN&rb=196&re=264&var=G231W	deleterious(0.02)	Q9BQR2_HUMAN,E9PLT2_HUMAN,B4DLB0_HUMAN			YES	UBTF,missense_variant,p.Gly231Trp,ENST00000302904,;UBTF,missense_variant,p.Gly231Trp,ENST00000436088,NM_014233.3;UBTF,missense_variant,p.Gly231Trp,ENST00000529383,;UBTF,intron_variant,,ENST00000343638,NM_001076683.1;UBTF,intron_variant,,ENST00000533177,;UBTF,intron_variant,,ENST00000527034,;UBTF,intron_variant,,ENST00000393606,NM_001076684.2;UBTF,intron_variant,,ENST00000526094,;UBTF,downstream_gene_variant,,ENST00000530828,;UBTF,upstream_gene_variant,,ENST00000529373,;CTB-175E5.7,intron_variant,,ENST00000586560,;UBTF,downstream_gene_variant,,ENST00000537550,;UBTF,non_coding_transcript_exon_variant,,ENST00000529042,;UBTF,upstream_gene_variant,,ENST00000529947,;UBTF,upstream_gene_variant,,ENST00000531368,;							MODERATE	691/2295	G231W	UBF1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000302640		CCDS11480.1			1	
SCN7A	0	LGGM	GRCh37	2	167266194	167266194	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000409855.1:c.3963G>T	p.Val1321=	p.V1321=	ENST00000409855	NM_002976.3	1321	gtG/gtT	0	1	1	UPI0000209019	0		ENST00000409855		ENSG00000136546	10594		34			HGNC	p.V1321V		SCN7A		SNV							ENST00000409855	protein_coding			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		V		A		4090/7183				Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN			YES	SCN7A,synonymous_variant,p.=,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;							LOW	3963/5049		SCN7A_HUMAN			Transcript			.	ENSP00000386796		CCDS46442.1			1	
THSD1	0	LGGM	GRCh37	13	52960215	52960215	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000258613.4:c.1128C>A	p.Val376=	p.V376=	ENST00000258613	NM_018676.3	376	gtC/gtA	0	1	1	UPI000007376D	0		ENST00000258613		ENSG00000136114	17754		32			HGNC	p.V376V		THSD1		SNV							ENST00000258613	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR16311,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		V		T		1307/2962				F5H419_HUMAN			YES	THSD1,synonymous_variant,p.=,ENST00000258613,NM_018676.3;THSD1,5_prime_UTR_variant,,ENST00000544466,;THSD1,intron_variant,,ENST00000349258,NM_199263.2;							LOW	1128/2559		THSD1_HUMAN			Transcript			.	ENSP00000258613		CCDS9432.1			1	
DUS3L	0	LGGM	GRCh37	19	5790281	5790281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	4	.	.	ENST00000309061.7:c.164G>T	p.Arg55Leu	p.R55L	ENST00000309061	NM_020175.2	55	cGg/cTg	0	1	1	UPI0000140953	0	NA	ENST00000309061		ENSG00000141994	26920		33	0		HGNC	p.R55L		DUS3L		SNV							ENST00000320699	protein_coding	getma.org/?cm=var&var=hg19,19,5790281,C,A&fts=all				R/L		A	neutral	261/2113		getma.org/?cm=msa&ty=f&p=DUS3L_HUMAN&rb=1&re=200&var=R55L	tolerated(0.24)	D6W636_HUMAN			YES	DUS3L,missense_variant,p.Arg55Leu,ENST00000309061,NM_020175.2;DUS3L,missense_variant,p.Arg55Leu,ENST00000320699,NM_001161619.1;DUS3L,upstream_gene_variant,,ENST00000590343,;DUS3L,upstream_gene_variant,,ENST00000592491,;CTB-54O9.9,upstream_gene_variant,,ENST00000586012,;DUS3L,non_coding_transcript_exon_variant,,ENST00000590681,;DUS3L,missense_variant,p.Arg55Leu,ENST00000590110,;DUS3L,missense_variant,p.Gly34Trp,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,;							MODERATE	164/1953	R55L	DUS3L_HUMAN			Transcript		benign(0.001)	.	ENSP00000311977		CCDS32880.1			1	
CMTR2	0	LGGM	GRCh37	16	71319438	71319438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000338099.5:c.386C>A	p.Pro129Gln	p.P129Q	ENST00000338099		129	cCa/cAa	0	1	1	UPI000006EA8B	0	NA	ENST00000338099		ENSG00000180917	25635		37	1.865		HGNC	p.P129Q		CMTR2		SNV							ENST00000563876	protein_coding	getma.org/?cm=var&var=hg19,16,71319438,G,T&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF01728,PROSITE_profiles:PS51614,hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF1,Superfamily_domains:SSF53335		P/Q		T	low	723/4869		getma.org/?cm=msa&ty=f&p=FTSJ1_HUMAN&rb=110&re=320&var=P129Q	deleterious(0)	H3BUK2_HUMAN,H3BTZ7_HUMAN,H3BS00_HUMAN,H3BR19_HUMAN,H3BNZ8_HUMAN			YES	CMTR2,missense_variant,p.Pro129Gln,ENST00000338099,;CMTR2,missense_variant,p.Pro129Gln,ENST00000434935,NM_001099642.1,NM_018348.5;CMTR2,missense_variant,p.Pro129Gln,ENST00000565850,;CMTR2,missense_variant,p.Pro129Gln,ENST00000563876,;CMTR2,missense_variant,p.Pro129Gln,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;							MODERATE	386/2313	P129Q	CMTR2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000337512		CCDS10898.1			1	
ZKSCAN2	0	LGGM	GRCh37	16	25266560	25266560	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000328086.7:c.553C>A	p.Arg185=	p.R185=	ENST00000328086	NM_001012981.4	185	Cga/Aga	0	1	1	UPI0000229E7F	0		ENST00000328086		ENSG00000155592	25677		31			HGNC	p.R185R		ZKSCAN2		SNV							ENST00000328086	protein_coding			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF206		R		T		1357/7523							YES	ZKSCAN2,synonymous_variant,p.=,ENST00000328086,NM_001012981.4;ZKSCAN2,synonymous_variant,p.=,ENST00000569150,;ZKSCAN2,non_coding_transcript_exon_variant,,ENST00000565590,;							LOW	553/2904		ZKSC2_HUMAN			Transcript			.	ENSP00000331626		CCDS32410.1			1	
GPD1	0	LGGM	GRCh37	12	50498381	50498381	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000301149.3:c.66G>T	p.Val22=	p.V22=	ENST00000301149	NM_001257199.1	22	gtG/gtT	0	1	1	UPI0000072D4F	0		ENST00000301149		ENSG00000167588	4455		40			HGNC	p.W37L		GPD1		SNV			1				ENST00000547964	protein_coding			hmmpanther:PTHR11728,hmmpanther:PTHR11728:SF10,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR03376,Pfam_domain:PF01210,PIRSF_domain:PIRSF000114,Superfamily_domains:SSF51735,Prints_domain:PR00077		V		T		298/3082							YES	GPD1,synonymous_variant,p.=,ENST00000301149,NM_001257199.1,NM_005276.3;GPD1,synonymous_variant,p.=,ENST00000548814,;SMARCD1,downstream_gene_variant,,ENST00000394963,NM_003076.4;SMARCD1,downstream_gene_variant,,ENST00000381513,NM_139071.2;SMARCD1,downstream_gene_variant,,ENST00000548573,;GPD1,non_coding_transcript_exon_variant,,ENST00000547190,;GPD1,non_coding_transcript_exon_variant,,ENST00000548152,;SMARCD1,downstream_gene_variant,,ENST00000549526,;GPD1,missense_variant,p.Trp37Leu,ENST00000547964,;GPD1,non_coding_transcript_exon_variant,,ENST00000551939,;GPD1,upstream_gene_variant,,ENST00000550172,;SMARCD1,downstream_gene_variant,,ENST00000549274,;							LOW	66/1050		GPDA_HUMAN			Transcript			.	ENSP00000301149		CCDS8799.1			1	
SERPINH1	0	LGGM	GRCh37	11	75280111	75280111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000524558.1:c.849G>T	p.Lys283Asn	p.K283N	ENST00000524558		283	aaG/aaT	0	1		UPI00001271B6	0	getma.org/pdb.php?prot=SERPH_HUMAN&from=45&to=409&var=K283N	ENST00000358171		ENSG00000149257	1546		31	1.34		HGNC	p.K283N		SERPINH1		SNV			1				ENST00000524558	protein_coding	getma.org/?cm=var&var=hg19,11,75280111,G,T&fts=all		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF27,SMART_domains:SM00093,Superfamily_domains:SSF56574		K/N		T	low	1117/2225		getma.org/?cm=msa&ty=f&p=SERPH_HUMAN&rb=45&re=409&var=K283N	deleterious(0.04)	Q9NPA9_HUMAN,E9PRS3_HUMAN,E9PR70_HUMAN,E9PNX1_HUMAN,E9PMI5_HUMAN,E9PKH2_HUMAN,E9PK86_HUMAN,E9PJH8_HUMAN,E9PIG2_HUMAN,B4DN87_HUMAN				SERPINH1,missense_variant,p.Lys283Asn,ENST00000524558,;SERPINH1,missense_variant,p.Lys283Asn,ENST00000533603,NM_001207014.1;SERPINH1,missense_variant,p.Lys66Asn,ENST00000525876,;SERPINH1,missense_variant,p.Lys283Asn,ENST00000358171,NM_001235.3;SERPINH1,missense_variant,p.Lys283Asn,ENST00000530284,;SERPINH1,missense_variant,p.Lys283Asn,ENST00000532356,;SERPINH1,downstream_gene_variant,,ENST00000525611,;SERPINH1,downstream_gene_variant,,ENST00000526397,;SERPINH1,downstream_gene_variant,,ENST00000528760,;SERPINH1,downstream_gene_variant,,ENST00000529643,;SERPINH1,downstream_gene_variant,,ENST00000528990,;SERPINH1,downstream_gene_variant,,ENST00000533449,;SERPINH1,downstream_gene_variant,,ENST00000525492,;SERPINH1,downstream_gene_variant,,ENST00000526242,;SERPINH1,upstream_gene_variant,,ENST00000526638,;							MODERATE	849/1257	K283N	SERPH_HUMAN			Transcript		benign(0.314)	.	ENSP00000350894		CCDS8239.1			1	
ALDH1L1	0	LGGM	GRCh37	3	125872303	125872303	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000273450.3:c.872G>T	p.Gly291Val	p.G291V	ENST00000273450	NM_001270364.1	291	gGg/gTg	0	1		UPI000013EE40	0	getma.org/pdb.php?prot=AL1L1_HUMAN&from=204&to=310&var=G281V	ENST00000393434		ENSG00000144908	3978		32	2.925		HGNC	p.G180V		ALDH1L1		SNV							ENST00000452905	protein_coding	getma.org/?cm=var&var=hg19,3,125872303,C,A&fts=all		Gene3D:3.10.25.10,Pfam_domain:PF02911,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF50486		G/V		A	medium	1192/3277		getma.org/?cm=msa&ty=f&p=AL1L1_HUMAN&rb=204&re=310&var=G281V	deleterious_low_confidence(0)	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN				ALDH1L1,missense_variant,p.Gly281Val,ENST00000393434,NM_012190.3;ALDH1L1,missense_variant,p.Gly291Val,ENST00000273450,NM_001270364.1;ALDH1L1,missense_variant,p.Gly281Val,ENST00000472186,;ALDH1L1,missense_variant,p.Gly281Val,ENST00000393431,;ALDH1L1,missense_variant,p.Gly180Val,ENST00000452905,NM_001270365.1;ALDH1L1,missense_variant,p.Gly106Val,ENST00000455064,;ALDH1L1,downstream_gene_variant,,ENST00000460368,;ALDH1L1,downstream_gene_variant,,ENST00000488356,;ALDH1L1,downstream_gene_variant,,ENST00000490367,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000413612,;ALDH1L1,3_prime_UTR_variant,,ENST00000473607,;ALDH1L1,3_prime_UTR_variant,,ENST00000493803,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000476245,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000484724,;							MODERATE	842/2709	G281V	AL1L1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000377083		CCDS3034.1			1	
BAALC	0	LGGM	GRCh37	8	104210379	104210379	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	4	.	.	ENST00000309982.5:c.161-14768C>A		*54*	ENST00000309982	NM_024812.2			0	1		UPI0000071FE0	0		ENST00000297574		ENSG00000164929	14333		39			HGNC	p.P71P		BAALC		SNV							ENST00000330955	protein_coding							A		-/801								BAALC,synonymous_variant,p.=,ENST00000330955,;BAALC,intron_variant,,ENST00000309982,NM_024812.2;BAALC,intron_variant,,ENST00000438105,NM_001024372.1;BAALC,intron_variant,,ENST00000297574,;RP11-318M2.2,intron_variant,,ENST00000499522,;RP11-318M2.2,intron_variant,,ENST00000523614,;RP11-318M2.2,intron_variant,,ENST00000523915,;BAALC,intron_variant,,ENST00000519507,;							MODIFIER	-/543		BAALC_HUMAN			Transcript			.	ENSP00000297574					1	
CHD8	0	LGGM	GRCh37	14	21854318	21854318	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000399982.2:c.7200G>T	p.Thr2400=	p.T2400=	ENST00000399982	NM_001170629.1	2400	acG/acT	0	1	1	UPI00002375B9	0		ENST00000399982		ENSG00000100888	20153		44			HGNC	p.T2400T		CHD8		SNV			1				ENST00000557364	protein_coding			SMART_domains:SM00592		T		A		7265/8229							YES	CHD8,synonymous_variant,p.=,ENST00000399982,NM_001170629.1;CHD8,synonymous_variant,p.=,ENST00000557364,;CHD8,synonymous_variant,p.=,ENST00000430710,NM_020920.3;CHD8,synonymous_variant,p.=,ENST00000553870,;SUPT16H,upstream_gene_variant,,ENST00000216297,NM_007192.3;SUPT16H,upstream_gene_variant,,ENST00000555943,;RP11-524O1.4,downstream_gene_variant,,ENST00000565098,;CHD8,non_coding_transcript_exon_variant,,ENST00000557727,;SUPT16H,upstream_gene_variant,,ENST00000556217,;SUPT16H,upstream_gene_variant,,ENST00000555752,;SUPT16H,upstream_gene_variant,,ENST00000557652,;SUPT16H,upstream_gene_variant,,ENST00000556309,;							LOW	7200/7746		CHD8_HUMAN			Transcript			.	ENSP00000382863		CCDS53885.1			1	
ITGA10	0	LGGM	GRCh37	1	145532823	145532823	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	79	4	.	.	ENST00000369304.3:c.1142G>T	p.Arg381Leu	p.R381L	ENST00000369304	NM_003637.3	381	cGg/cTg	0	1	1	UPI000013D8D1	0	getma.org/pdb.php?prot=ITA10_HUMAN&from=351&to=550&var=R381L	ENST00000369304		ENSG00000143127	6135		83	-1.17		HGNC	p.R250L		ITGA10		SNV							ENST00000538811	protein_coding	getma.org/?cm=var&var=hg19,1,145532823,G,T&fts=all		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF26,Superfamily_domains:SSF69318		R/L		T	neutral	1317/5269		getma.org/?cm=msa&ty=f&p=ITA10_HUMAN&rb=351&re=550&var=R381L	tolerated(0.83)				YES	ITGA10,missense_variant,p.Arg381Leu,ENST00000369304,NM_003637.3;ITGA10,missense_variant,p.Arg250Leu,ENST00000538811,;ITGA10,missense_variant,p.Arg238Leu,ENST00000539363,;ITGA10,downstream_gene_variant,,ENST00000481236,;ITGA10,downstream_gene_variant,,ENST00000468261,;							MODERATE	1142/3504	R381L	ITA10_HUMAN			Transcript		benign(0.001)	.	ENSP00000358310		CCDS918.1			1	
C20orf78	0	LGGM	GRCh37	20	18790454	18790454	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000278779.4:c.422C>A	p.Ser141Ter	p.S141*	ENST00000278779	NM_001242671.1	141	tCg/tAg	0	1	1	UPI00001285EC	0	NA	ENST00000278779		ENSG00000149443	16210		47	0		HGNC	p.S141X		C20orf78		SNV							ENST00000278779	protein_coding	getma.org/?cm=var&var=hg19,20,18790454,G,T&fts=all				S/*		T	NA	524/606		NA					YES	C20orf78,stop_gained,p.Ser141Ter,ENST00000278779,NM_001242671.1;SCP2D1,upstream_gene_variant,,ENST00000377428,NM_178483.2;C20orf78,non_coding_transcript_exon_variant,,ENST00000463425,;							HIGH	422/456	S141*	CT078_HUMAN			Transcript			.	ENSP00000278779		CCDS56181.1			1	
SF3B1	0	LGGM	GRCh37	2	198272735	198272735	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000335508.6:c.1226C>A	p.Pro409Gln	p.P409Q	ENST00000335508	NM_012433.2	409	cCa/cAa	0	1	1	UPI000013D493	0	getma.org/pdb.php?prot=SF3B1_HUMAN&from=282&to=457&var=P409Q	ENST00000335508		ENSG00000115524	10768		50	3.51		HGNC	p.P409Q		SF3B1		SNV			1				ENST00000335508	protein_coding	getma.org/?cm=var&var=hg19,2,198272735,G,T&fts=all		hmmpanther:PTHR12097,Pfam_domain:PF08920		P/Q		T	high	1318/6526		getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=282&re=457&var=P409Q	deleterious(0)	Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,missense_variant,p.Pro409Gln,ENST00000335508,NM_012433.2;SNORA4,downstream_gene_variant,,ENST00000365564,;SF3B1,non_coding_transcript_exon_variant,,ENST00000468925,;SF3B1,downstream_gene_variant,,ENST00000470268,;							MODERATE	1226/3915	P409Q	SF3B1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335321		CCDS33356.1			1	
NTRK2	0	LGGM	GRCh37	9	87366943	87366943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	4	.	.	ENST00000277120.3:c.1339C>A	p.Leu447Ile	p.L447I	ENST00000277120		447	Ctt/Att	0	1		UPI0000000C0E	0	NA	ENST00000323115		ENSG00000148053	8032		18	2.285		HGNC	p.L447I		NTRK2		SNV			1				ENST00000395882	protein_coding	getma.org/?cm=var&var=hg19,9,87366943,C,A&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/I		A	medium	1692/3708		getma.org/?cm=msa&ty=f&p=NTRK2_HUMAN&rb=378&re=537&var=L447I	deleterious(0.03)	S5MD53_HUMAN,Q8WXJ4_HUMAN,Q548C2_HUMAN				NTRK2,missense_variant,p.Leu447Ile,ENST00000304053,NM_001018065.2;NTRK2,missense_variant,p.Leu447Ile,ENST00000376208,NM_001018066.2;NTRK2,missense_variant,p.Leu447Ile,ENST00000395882,NM_001007097.1;NTRK2,missense_variant,p.Leu447Ile,ENST00000359847,;NTRK2,missense_variant,p.Leu447Ile,ENST00000376214,NM_006180.3;NTRK2,missense_variant,p.Leu447Ile,ENST00000376213,NM_001018064.1;NTRK2,missense_variant,p.Leu447Ile,ENST00000277120,;NTRK2,missense_variant,p.Leu447Ile,ENST00000323115,;NTRK2,missense_variant,p.Leu291Ile,ENST00000395866,;							MODERATE	1339/2469	L447I	NTRK2_HUMAN			Transcript		possibly_damaging(0.49)	.	ENSP00000314586		CCDS35050.1			1	
DSG3	0	LGGM	GRCh37	18	29052318	29052318	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000257189.4:c.1969C>A	p.Pro657Thr	p.P657T	ENST00000257189	NM_001944.2	657	Cca/Aca	0	1	1	UPI000013CF4B	0	NA	ENST00000257189		ENSG00000134757	3050		40	2.215		HGNC	p.P657T		DSG3		SNV							ENST00000257189	protein_coding	getma.org/?cm=var&var=hg19,18,29052318,C,A&fts=all		hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025		P/T		A	medium	2052/5525		getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=576&re=774&var=P657T	deleterious(0.04)				YES	DSG3,missense_variant,p.Pro657Thr,ENST00000257189,NM_001944.2;							MODERATE	1969/3000	P657T	DSG3_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000257189		CCDS11898.1			1	
CSPG5	0	LGGM	GRCh37	3	47618792	47618792	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000383738.2:c.724G>T	p.Glu242Ter	p.E242*	ENST00000383738	NM_001206945.1	242	Gag/Tag	0	1	1	UPI0000D61AFE	0	NA	ENST00000383738		ENSG00000114646	2467		32	0		HGNC	p.E242X		CSPG5		SNV							ENST00000383738	protein_coding	getma.org/?cm=var&var=hg19,3,47618792,C,A&fts=all		Pfam_domain:PF06566,hmmpanther:PTHR15381,hmmpanther:PTHR15381:SF1		E/*		A	NA	2823/4161		NA		B7Z2E0_HUMAN			YES	CSPG5,stop_gained,p.Glu242Ter,ENST00000383738,NM_001206945.1,NM_001206943.1;CSPG5,stop_gained,p.Glu242Ter,ENST00000264723,NM_006574.3,NM_001206942.1;CSPG5,stop_gained,p.Glu104Ter,ENST00000456150,;CSPG5,downstream_gene_variant,,ENST00000465441,;							HIGH	724/1701	E242*	CSPG5_HUMAN			Transcript			.	ENSP00000373244		CCDS56253.1			1	
ABCB1	0	LGGM	GRCh37	7	87179321	87179321	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	54	4	.	.	ENST00000265724.3:c.1400G>T	p.Arg467Leu	p.R467L	ENST00000265724	NM_000927.4	467	cGg/cTg	0	1	1	UPI000013D66C	0	getma.org/pdb.php?prot=MDR1_HUMAN&from=434&to=559&var=R467L	ENST00000265724		ENSG00000085563	40		58	2.7		HGNC	p.R403L		ABCB1		SNV			1				ENST00000543898	protein_coding	getma.org/?cm=var&var=hg19,7,87179321,C,A&fts=all		PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		R/L		A	medium	1818/4645		getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=434&re=559&var=R467L	deleterious(0.01)	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN			YES	ABCB1,missense_variant,p.Arg467Leu,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Arg403Leu,ENST00000543898,;ABCB1,non_coding_transcript_exon_variant,,ENST00000482527,;							MODERATE	1400/3843	R467L	MDR1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265724		CCDS5608.1			1	
ZCCHC14	0	LGGM	GRCh37	16	87445698	87445698	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	4	.	.	ENST00000268616.4:c.2218G>T	p.Glu740Ter	p.E740*	ENST00000268616	NM_015144.2	740	Gaa/Taa	0	1	1	UPI00000705C4	0	NA	ENST00000268616		ENSG00000140948	24134		13	0		HGNC	p.E740X		ZCCHC14		SNV							ENST00000268616	protein_coding	getma.org/?cm=var&var=hg19,16,87445698,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195		E/*		A	NA	2436/7102		NA					YES	ZCCHC14,stop_gained,p.Glu740Ter,ENST00000268616,NM_015144.2;ZCCHC14,stop_gained,p.Glu624Ter,ENST00000561928,;ZCCHC14,stop_gained,p.Glu740Ter,ENST00000568020,;ZCCHC14,downstream_gene_variant,,ENST00000565193,;							HIGH	2218/2850	E740*	ZCH14_HUMAN			Transcript			.	ENSP00000268616		CCDS10961.1			1	
SOX6	0	LGGM	GRCh37	11	16133464	16133464	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000396356.3:c.783G>T	p.Gln261His	p.Q261H	ENST00000396356	NM_033326.3	261	caG/caT	0	1		UPI000013FD91	0	NA	ENST00000528429		ENSG00000110693	16421		26	2.16		HGNC	p.Q261H		SOX6		SNV							ENST00000316399	protein_coding	getma.org/?cm=var&var=hg19,11,16133464,C,A&fts=all		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF89		Q/H		A	medium	851/2656		getma.org/?cm=msa&ty=f&p=SOX6_HUMAN&rb=1&re=611&var=Q261H	tolerated(0.1)	E9PQL4_HUMAN,E9PQ67_HUMAN,E9PN02_HUMAN				SOX6,missense_variant,p.Gln261His,ENST00000352083,;SOX6,missense_variant,p.Gln261His,ENST00000396356,NM_033326.3;SOX6,missense_variant,p.Gln261His,ENST00000316399,;SOX6,missense_variant,p.Gln261His,ENST00000528252,NM_001145811.1;SOX6,missense_variant,p.Gln264His,ENST00000527619,NM_017508.2;SOX6,missense_variant,p.Gln261His,ENST00000528429,NM_001145819.1;SOX6,upstream_gene_variant,,ENST00000524650,;							MODERATE	783/2487	Q261H	SOX6_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000433233					1	
BDP1	0	LGGM	GRCh37	5	70845421	70845421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000358731.4:c.6983G>T	p.Arg2328Met	p.R2328M	ENST00000358731	NM_018429.2	2328	aGg/aTg	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		49	1.995		HGNC	p.R2328M		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70845421,G,T&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		R/M		T	medium	7246/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=R2328M	deleterious(0)				YES	BDP1,missense_variant,p.Arg2328Met,ENST00000358731,NM_018429.2;BDP1,intron_variant,,ENST00000380675,;BDP1,missense_variant,p.Arg350Met,ENST00000525844,;BDP1,intron_variant,,ENST00000514903,;BDP1,downstream_gene_variant,,ENST00000508917,;							MODERATE	6983/7875	R2328M	BDP1_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000351575		CCDS43328.1			1	
CHD2	0	LGGM	GRCh37	15	93480835	93480835	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000394196.4:c.531C>A	p.Ala177=	p.A177=	ENST00000394196	NM_001271.3	177	gcC/gcA	0	1	1	UPI0000E8A85C	0		ENST00000394196		ENSG00000173575	1917		47			HGNC	p.A177A		CHD2		SNV			1				ENST00000557381	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Low_complexity_(Seg):seg		A		A		1599/9857				Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,synonymous_variant,p.=,ENST00000394196,NM_001271.3;CHD2,synonymous_variant,p.=,ENST00000557381,;CHD2,synonymous_variant,p.=,ENST00000420239,NM_001042572.2;CHD2,synonymous_variant,p.=,ENST00000536619,;CHD2,synonymous_variant,p.=,ENST00000556722,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000556270,;CHD2,intron_variant,,ENST00000309818,;CHD2,upstream_gene_variant,,ENST00000553323,;							LOW	531/5487		CHD2_HUMAN			Transcript			.	ENSP00000377747		CCDS10374.2			1	
ZNF750	0	LGGM	GRCh37	17	80788230	80788230	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	4	.	.	ENST00000269394.3:c.1960G>T	p.Gly654Trp	p.G654W	ENST00000269394	NM_024702.2	654	Ggg/Tgg	0	1	1	UPI000013D82D	0	NA	ENST00000269394		ENSG00000141579	25843		16	1.245		HGNC	p.G654W		ZNF750		SNV			1				ENST00000269394	protein_coding	getma.org/?cm=var&var=hg19,17,80788230,C,A&fts=all		hmmpanther:PTHR14678:SF1,hmmpanther:PTHR14678		G/W		A	low	2794/3713		getma.org/?cm=msa&ty=f&p=ZN750_HUMAN&rb=548&re=721&var=G654W	deleterious(0.01)	I3L0W7_HUMAN,B4DWV0_HUMAN			YES	ZNF750,missense_variant,p.Gly654Trp,ENST00000269394,NM_024702.2;ZNF750,missense_variant,p.Gly255Trp,ENST00000572562,;TBCD,intron_variant,,ENST00000355528,NM_005993.4;TBCD,intron_variant,,ENST00000539345,;TBCD,intron_variant,,ENST00000397466,;							MODERATE	1960/2172	G654W	ZN750_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000269394		CCDS11819.1			1	
SERPINB3	0	LGGM	GRCh37	18	61325766	61325766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000283752.5:c.450G>T	p.Trp150Cys	p.W150C	ENST00000283752	NM_006919.2	150	tgG/tgT	0	1	1	UPI0000038A19	0	getma.org/pdb.php?prot=SPB3_HUMAN&from=6&to=390&var=W150C	ENST00000283752		ENSG00000057149	10569		40	4.35		HGNC	p.W150C		SERPINB3		SNV							ENST00000332821	protein_coding	getma.org/?cm=var&var=hg19,18,61325766,C,A&fts=all		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		W/C		A	high	594/1777		getma.org/?cm=msa&ty=f&p=SPB3_HUMAN&rb=6&re=390&var=W150C	deleterious(0)	Q9BYH9_HUMAN			YES	SERPINB3,missense_variant,p.Trp150Cys,ENST00000283752,NM_006919.2;SERPINB3,missense_variant,p.Trp150Cys,ENST00000332821,;SERPINB11,intron_variant,,ENST00000489748,;							MODERATE	450/1173	W150C	SPB3_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000283752		CCDS11987.1			1	
FAM179B	0	LGGM	GRCh37	14	45431945	45431945	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000361577.3:c.321G>T	p.Arg107=	p.R107=	ENST00000361577	NM_015091.2	107	cgG/cgT	0	1	1	UPI00001C1F79	0		ENST00000361577		ENSG00000198718	19959		37			HGNC	p.R107R		FAM179B		SNV							ENST00000361577	protein_coding			hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6		R		T		535/6247							YES	FAM179B,synonymous_variant,p.=,ENST00000361462,;FAM179B,synonymous_variant,p.=,ENST00000361577,NM_015091.2;FAM179B,synonymous_variant,p.=,ENST00000382233,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000396128,NM_017658.3;KLHL28,upstream_gene_variant,,ENST00000355081,;KLHL28,upstream_gene_variant,,ENST00000556500,;KLHL28,upstream_gene_variant,,ENST00000579157,;KLHL28,upstream_gene_variant,,ENST00000557468,;KLHL28,downstream_gene_variant,,ENST00000553817,;FAM179B,synonymous_variant,p.=,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;							LOW	321/5163		F179B_HUMAN			Transcript			.	ENSP00000355045		CCDS9681.1			1	
HOXD12	0	LGGM	GRCh37	2	176965425	176965425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000406506.2:c.750C>A	p.Phe250Leu	p.F250L	ENST00000406506		250	ttC/ttA	0	1	1	UPI0000EE2EA3	0	getma.org/pdb.php?prot=HXD12_HUMAN&from=203&to=259&var=F250L	ENST00000406506		ENSG00000170178	5135		49	3.935		HGNC	p.F250L		HOXD12		SNV							ENST00000406506	protein_coding	getma.org/?cm=var&var=hg19,2,176965425,C,A&fts=all		Prints_domain:PR00024,Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF40,PROSITE_profiles:PS50071		F/L		A	high	822/1805		getma.org/?cm=msa&ty=f&p=HXD12_HUMAN&rb=203&re=259&var=F250L	deleterious(0)				YES	HOXD12,missense_variant,p.Phe250Leu,ENST00000406506,;HOXD12,3_prime_UTR_variant,,ENST00000404162,NM_021193.3;HOXD13,downstream_gene_variant,,ENST00000392539,NM_000523.3;HOXD11,upstream_gene_variant,,ENST00000498438,;							MODERATE	750/813	F250L	HXD12_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000385586		CCDS46456.1			1	
CDHR4	0	LGGM	GRCh37	3	49836387	49836387	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000412678.2:c.404-37G>T		*135*	ENST00000412678	NM_001007540.2			0	1	1	UPI0001574E5E	0		ENST00000412678		ENSG00000187492	34527		31			HGNC	p.G148V		CDHR4		SNV							ENST00000343366	protein_coding							A		-/2476							YES	CDHR4,missense_variant,p.Gly148Val,ENST00000343366,;CDHR4,intron_variant,,ENST00000412678,NM_001007540.2;CDHR4,intron_variant,,ENST00000487256,;FAM212A,upstream_gene_variant,,ENST00000333323,NM_203370.1;							MODIFIER	-/2367		CDHR4_HUMAN			Transcript			.	ENSP00000391409		CCDS46829.1			1	
PHF21B	0	LGGM	GRCh37	22	45281784	45281784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000313237.5:c.1232G>T	p.Gly411Val	p.G411V	ENST00000313237	NM_138415.4	411	gGg/gTg	0	1	1	UPI0000072111	0	NA	ENST00000313237		ENSG00000056487	25161		35	1.935		HGNC	p.G357V		PHF21B		SNV							ENST00000404079	protein_coding	getma.org/?cm=var&var=hg19,22,45281784,C,A&fts=all				G/V		A	medium	1383/3671		getma.org/?cm=msa&ty=f&p=PF21B_HUMAN&rb=409&re=529&var=G411V	deleterious(0)	B3KTL5_HUMAN			YES	PHF21B,missense_variant,p.Gly411Val,ENST00000313237,NM_138415.4;PHF21B,missense_variant,p.Gly207Val,ENST00000403565,NM_001284296.1;PHF21B,missense_variant,p.Gly369Val,ENST00000396103,NM_001135862.2;PHF21B,missense_variant,p.Gly357Val,ENST00000404079,NM_001242450.1;PHF21B,downstream_gene_variant,,ENST00000447824,;PHF21B,downstream_gene_variant,,ENST00000414269,;							MODERATE	1232/1596	G411V	PF21B_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000324403		CCDS14061.1			1	
ZNF276	0	LGGM	GRCh37	16	89795717	89795717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	4	.	.	ENST00000443381.2:c.1160C>A	p.Pro387Gln	p.P387Q	ENST00000443381	NM_001113525.1	387	cCa/cAa	0	1	1	UPI0000EE7D9C	0	NA	ENST00000443381		ENSG00000158805	23330		33	0.895		HGNC	p.P295Q		ZNF276		SNV							ENST00000568064	protein_coding	getma.org/?cm=var&var=hg19,16,89795717,C,A&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF340		P/Q		A	low	1257/2267		getma.org/?cm=msa&ty=f&p=ZN276_HUMAN&rb=362&re=403&var=P387Q	tolerated(0.07)				YES	ZNF276,missense_variant,p.Pro312Gln,ENST00000289816,NM_152287.3;ZNF276,missense_variant,p.Pro387Gln,ENST00000443381,NM_001113525.1;ZNF276,missense_variant,p.Pro295Gln,ENST00000568064,;ZNF276,missense_variant,p.Pro173Gln,ENST00000446326,;ZNF276,3_prime_UTR_variant,,ENST00000568295,;ZNF276,3_prime_UTR_variant,,ENST00000562530,;ZNF276,3_prime_UTR_variant,,ENST00000563541,;ZNF276,non_coding_transcript_exon_variant,,ENST00000563983,;ZNF276,non_coding_transcript_exon_variant,,ENST00000561536,;ZNF276,non_coding_transcript_exon_variant,,ENST00000569426,;ZNF276,upstream_gene_variant,,ENST00000564004,;ZNF276,upstream_gene_variant,,ENST00000569582,;							MODERATE	1160/1845	P387Q	ZN276_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000415836		CCDS45554.1			1	
KDM4B	0	LGGM	GRCh37	19	5077409	5077409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	4	.	.	ENST00000159111.4:c.708C>A	p.Asp236Glu	p.D236E	ENST00000159111	NM_015015.2	236	gaC/gaA	0	1	1	UPI00001C202B	0	getma.org/pdb.php?prot=KDM4B_HUMAN&from=176&to=292&var=D236E	ENST00000159111		ENSG00000127663	29136		67	-0.945		HGNC	p.D236E		KDM4B		SNV							ENST00000536461	protein_coding	getma.org/?cm=var&var=hg19,19,5077409,C,A&fts=all		Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30,SMART_domains:SM00558,Superfamily_domains:SSF51197		D/E		A	neutral	926/5593		getma.org/?cm=msa&ty=f&p=KDM4B_HUMAN&rb=176&re=292&var=D236E		K7ES23_HUMAN			YES	KDM4B,missense_variant,p.Asp236Glu,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Asp236Glu,ENST00000536461,;KDM4B,missense_variant,p.Asp236Glu,ENST00000381759,;KDM4B,non_coding_transcript_exon_variant,,ENST00000592175,;KDM4B,upstream_gene_variant,,ENST00000588961,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;							MODERATE	708/3291	D236E	KDM4B_HUMAN			Transcript		benign(0.013)	.	ENSP00000159111		CCDS12138.1			1	
MYH3	0	LGGM	GRCh37	17	10541244	10541244	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	4	.	.	ENST00000583535.1:c.3738G>T	p.Leu1246=	p.L1246=	ENST00000583535	NM_002470.3	1246	ctG/ctT	0	1	1	UPI000013C892	0		ENST00000583535		ENSG00000109063	7573		29			HGNC	p.L1246L		MYH3		SNV			1				ENST00000583535	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576,Superfamily_domains:SSF90257		L		A		3826/6037							YES	MYH3,synonymous_variant,p.=,ENST00000583535,NM_002470.3;MYH3,synonymous_variant,p.=,ENST00000226209,;							LOW	3738/5823		MYH3_HUMAN			Transcript			.	ENSP00000464317		CCDS11157.1			1	
APOB	0	LGGM	GRCh37	2	21236219	21236219	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	4	.	.	ENST00000233242.1:c.4029C>A	p.Pro1343=	p.P1343=	ENST00000233242	NM_000384.2	1343	ccC/ccA	0	1	1	UPI0000141B94	0		ENST00000233242		ENSG00000084674	603		48			HGNC	p.P1343P		APOB		SNV			1				ENST00000233242	protein_coding			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		P		T		4157/14121				S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;							LOW	4029/13692		APOB_HUMAN			Transcript			.	ENSP00000233242		CCDS1703.1			1	
RPL24	0	LGGM	GRCh37	3	101405335	101405335	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000394077.3:c.72C>A	p.Thr24=	p.T24=	ENST00000394077	NM_000986.3	24	acC/acA	0	1	1	UPI0000001688	0		ENST00000394077		ENSG00000114391	10325		47			HGNC	p.T24T		RPL24		SNV							ENST00000495401	protein_coding			hmmpanther:PTHR10792,PROSITE_patterns:PS01073,Gene3D:2.30.170.20,Pfam_domain:PF01246,SMART_domains:SM00746,Superfamily_domains:SSF57716		T		T		178/623							YES	RPL24,synonymous_variant,p.=,ENST00000469605,;RPL24,synonymous_variant,p.=,ENST00000394077,NM_000986.3;RPL24,synonymous_variant,p.=,ENST00000495401,;RPL24,non_coding_transcript_exon_variant,,ENST00000464595,;RPL24,non_coding_transcript_exon_variant,,ENST00000470961,;RPL24,upstream_gene_variant,,ENST00000488288,;							LOW	72/474		RL24_HUMAN			Transcript			.	ENSP00000377640		CCDS33809.1			1	
OR52R1	0	LGGM	GRCh37	11	4825374	4825374	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000356069.2:c.237C>A	p.Ser79=	p.S79=	ENST00000356069	NM_001005177.3	79	tcC/tcA	0	1	1	UPI0000140D5C	0		ENST00000356069		ENSG00000176937	15235		40			HGNC	p.S158S		OR52R1		SNV							ENST00000380382	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF68,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		S		T		237/948							YES	OR52R1,synonymous_variant,p.=,ENST00000380382,;OR52R1,synonymous_variant,p.=,ENST00000356069,NM_001005177.3;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							LOW	237/948		O52R1_HUMAN			Transcript			.	ENSP00000348368		CCDS31360.2			1	
KIR2DL3	0	LGGM	GRCh37	19	55255277	55255277	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	4	.	.	ENST00000342376.3:c.405G>T	p.Pro135=	p.P135=	ENST00000342376	NM_015868.2	135	ccG/ccT	0	1	1	UPI000012DB1C	0		ENST00000342376		ENSG00000243772	6331		74			HGNC	p.P135P		KIR2DL3		SNV							ENST00000434419	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		T		436/1590				M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN			YES	KIR2DL3,synonymous_variant,p.=,ENST00000342376,NM_015868.2;KIR2DL3,synonymous_variant,p.=,ENST00000434419,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;CTB-61M7.1,intron_variant,,ENST00000400864,;							LOW	405/1026		KI2L3_HUMAN			Transcript			.	ENSP00000342215		CCDS33107.1			1	
SLC41A3	0	LGGM	GRCh37	3	125735668	125735668	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	4	.	.	ENST00000315891.6:c.796C>A	p.Pro266Thr	p.P266T	ENST00000315891	NM_017836.3	266	Cca/Aca	0	1	1	UPI000013D523	0	NA	ENST00000315891		ENSG00000114544	31046		23	2.91		HGNC	p.P230T		SLC41A3		SNV							ENST00000346785	protein_coding	getma.org/?cm=var&var=hg19,3,125735668,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR16228:SF22,hmmpanther:PTHR16228		P/T		T	medium	1035/1797		getma.org/?cm=msa&ty=f&p=S41A3_HUMAN&rb=242&re=317&var=P266T	deleterious(0)	D6RF72_HUMAN,D6R9S7_HUMAN,D6R925_HUMAN			YES	SLC41A3,missense_variant,p.Pro240Thr,ENST00000383598,NM_001008487.1;SLC41A3,missense_variant,p.Pro266Thr,ENST00000360370,;SLC41A3,missense_variant,p.Pro266Thr,ENST00000315891,NM_017836.3,NM_001008485.1;SLC41A3,missense_variant,p.Pro230Thr,ENST00000346785,NM_001008486.1;SLC41A3,missense_variant,p.Pro149Thr,ENST00000508835,NM_001164475.1;SLC41A3,missense_variant,p.Pro281Thr,ENST00000514677,;SLC41A3,3_prime_UTR_variant,,ENST00000507008,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000512557,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000506102,;							MODERATE	796/1524	P266T	S41A3_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000326070		CCDS33843.1			1	
GCN1L1	0	LGGM	GRCh37	12	120608073	120608073	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000300648.6:c.1419G>T	p.Val473=	p.V473=	ENST00000300648	NM_006836.1	473	gtG/gtT	0	1	1	UPI00001FBC69	0		ENST00000300648		ENSG00000089154	4199		32			HGNC	p.V473V		GCN1L1		SNV							ENST00000300648	protein_coding			Superfamily_domains:SSF48371,Pfam_domain:PF12074,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		V		A		1432/8675				B4DM32_HUMAN			YES	GCN1L1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;AC004812.1,downstream_gene_variant,,ENST00000582675,;GCN1L1,upstream_gene_variant,,ENST00000551549,;							LOW	1419/8016		GCN1L_HUMAN			Transcript			.	ENSP00000300648		CCDS41847.1			1	
WHSC1L1	0	LGGM	GRCh37	8	38137160	38137160	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000317025.8:c.3658C>A	p.Arg1220Ser	p.R1220S	ENST00000317025	NM_023034.1	1220	Cgc/Agc	0	1	1	UPI000006F297	0	getma.org/pdb.php?prot=NSD3_HUMAN&from=1156&to=1262&var=R1220S	ENST00000317025		ENSG00000147548	12767		43	4.875		HGNC	p.R1220S		WHSC1L1		SNV							ENST00000317025	protein_coding	getma.org/?cm=var&var=hg19,8,38137160,G,T&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF301,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199		R/S		T	high	4176/10776		getma.org/?cm=msa&ty=f&p=NSD3_HUMAN&rb=1156&re=1262&var=R1220S	deleterious(0)	E9PQ95_HUMAN,E9PKA2_HUMAN			YES	WHSC1L1,missense_variant,p.Arg1220Ser,ENST00000317025,NM_023034.1;WHSC1L1,missense_variant,p.Arg1171Ser,ENST00000433384,;WHSC1L1,missense_variant,p.Arg1209Ser,ENST00000527502,;RP11-513D5.5,downstream_gene_variant,,ENST00000529325,;DDHD2,downstream_gene_variant,,ENST00000529872,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000528828,;							MODERATE	3658/4314	R1220S	NSD3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000313983		CCDS43729.1			1	
DNAH5	0	LGGM	GRCh37	5	13917358	13917358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	47	4	.	.	ENST00000265104.4:c.983G>T	p.Arg328Leu	p.R328L	ENST00000265104	NM_001369.2	328	cGg/cTg	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		51	2.23		HGNC	p.R328L		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13917358,C,A&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		R/L		A	medium	1088/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=246&re=804&var=R328L		O95496_HUMAN			YES	DNAH5,missense_variant,p.Arg328Leu,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;							MODERATE	983/13875	R328L	DYH5_HUMAN			Transcript		benign(0.427)	.	ENSP00000265104		CCDS3882.1			1	
C1orf87	0	LGGM	GRCh37	1	60463356	60463356	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000371201.3:c.1405G>T	p.Glu469Ter	p.E469*	ENST00000371201	NM_152377.2	469	Gag/Tag	0	1	1	UPI000006E066	0	NA	ENST00000371201		ENSG00000162598	28547		45	0		HGNC	p.E103X		C1orf87		SNV							ENST00000395552	protein_coding	getma.org/?cm=var&var=hg19,1,60463356,C,A&fts=all				E/*		A	NA	1513/2028		NA					YES	C1orf87,stop_gained,p.Glu469Ter,ENST00000371201,NM_152377.2;C1orf87,stop_gained,p.Glu240Ter,ENST00000450089,;C1orf87,stop_gained,p.Glu103Ter,ENST00000395552,;C1orf87,non_coding_transcript_exon_variant,,ENST00000486478,;C1orf87,non_coding_transcript_exon_variant,,ENST00000488027,;C1orf87,non_coding_transcript_exon_variant,,ENST00000491817,;							HIGH	1405/1641	E469*	CA087_HUMAN			Transcript			.	ENSP00000360244		CCDS614.1			1	
CASP7	0	LGGM	GRCh37	10	115489101	115489101	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	4	.	.	ENST00000369321.2:c.813C>A	p.Gly271=	p.G271=	ENST00000369321	NM_033338.5	271	ggC/ggA	0	1		UPI000003AEFD	0		ENST00000345633		ENSG00000165806	1508		28			HGNC	p.A227D		CASP7		SNV							ENST00000369331	protein_coding			Gene3D:3.40.50.1460,Pfam_domain:PF00656,Prints_domain:PR00376,PROSITE_profiles:PS50207,hmmpanther:PTHR10454,SMART_domains:SM00115,Superfamily_domains:SSF52129		G		A		1098/2659				Q5SVL2_HUMAN				CASP7,missense_variant,p.Ala227Asp,ENST00000369331,NM_033340.3;CASP7,synonymous_variant,p.=,ENST00000369321,NM_033338.5;CASP7,synonymous_variant,p.=,ENST00000345633,NM_033339.4;CASP7,synonymous_variant,p.=,ENST00000369315,;CASP7,synonymous_variant,p.=,ENST00000369318,NM_001267057.1,NM_001227.4;CASP7,synonymous_variant,p.=,ENST00000452490,NM_001267058.1;CASP7,downstream_gene_variant,,ENST00000429617,NM_001267056.1;CASP7,non_coding_transcript_exon_variant,,ENST00000487232,;							LOW	714/912		CASP7_HUMAN			Transcript			.	ENSP00000298701		CCDS7581.1			1	
SLC8A3	0	LGGM	GRCh37	14	70634754	70634754	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	4	.	.	ENST00000381269.2:c.386G>T	p.Trp129Leu	p.W129L	ENST00000381269	NM_183002.1	129	tGg/tTg	0	1	1	UPI0000073C9A	0	NA	ENST00000381269		ENSG00000100678	11070		24	1.945		HGNC	p.W129L		SLC8A3		SNV							ENST00000357887	protein_coding	getma.org/?cm=var&var=hg19,14,70634754,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845,Pfam_domain:PF01699		W/L		A	medium	1140/5268		getma.org/?cm=msa&ty=f&p=NAC3_HUMAN&rb=89&re=248&var=W129L	deleterious(0)	Q86TQ9_HUMAN			YES	SLC8A3,missense_variant,p.Trp129Leu,ENST00000381269,NM_183002.1,NM_058240.2;SLC8A3,missense_variant,p.Trp129Leu,ENST00000357887,NM_033262.3;SLC8A3,missense_variant,p.Trp129Leu,ENST00000356921,NM_182932.1;SLC8A3,missense_variant,p.Trp129Leu,ENST00000528359,;SLC8A3,missense_variant,p.Trp129Leu,ENST00000534137,;SLC8A3,missense_variant,p.Trp129Leu,ENST00000494208,;							MODERATE	386/2784	W129L	NAC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370669		CCDS35498.1			1	
CHD5	0	LGGM	GRCh37	1	6189114	6189114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	4	4	.	.	ENST00000262450.3:c.3403C>A	p.His1135Asn	p.H1135N	ENST00000262450	NM_015557.2	1135	Cac/Aac	0	1	1	UPI000006CD03	0	getma.org/pdb.php?prot=CHD5_HUMAN&from=1058&to=1138&var=H1135N	ENST00000262450		ENSG00000116254	16816		8	3.845		HGNC	p.H1135N		CHD5		SNV							ENST00000496404	protein_coding	getma.org/?cm=var&var=hg19,1,6189114,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540		H/N		T	high	3503/9646		getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=1058&re=1138&var=H1135N	deleterious(0)				YES	CHD5,missense_variant,p.His1135Asn,ENST00000262450,NM_015557.2;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.His1135Asn,ENST00000496404,;CHD5,missense_variant,p.His518Asn,ENST00000462991,;CHD5,synonymous_variant,p.=,ENST00000377999,;CHD5,upstream_gene_variant,,ENST00000491020,;							MODERATE	3403/5865	H1135N	CHD5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262450		CCDS57.1			1	
EIF3F	0	LGGM	GRCh37	11	8008934	8008934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	4	.	.	ENST00000533626.1:c.35C>A	p.Pro12Gln	p.P12Q	ENST00000533626		12	cCg/cAg	0	1		UPI000012D301	0	NA	ENST00000309828		ENSG00000175390	3275		48	0.695		HGNC	p.P12Q		EIF3F		SNV							ENST00000531329	protein_coding	getma.org/?cm=var&var=hg19,11,8008934,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	neutral	68/1254		getma.org/?cm=msa&ty=f&p=EIF3F_HUMAN&rb=1&re=86&var=P12Q	deleterious_low_confidence(0.01)	B4DEW9_HUMAN				EIF3F,missense_variant,p.Pro12Gln,ENST00000533626,;EIF3F,missense_variant,p.Pro27Gln,ENST00000537635,;EIF3F,missense_variant,p.Pro12Gln,ENST00000309828,NM_003754.2;EIF3F,5_prime_UTR_variant,,ENST00000449102,;EIF3F,missense_variant,p.Pro12Gln,ENST00000531329,;EIF3F,non_coding_transcript_exon_variant,,ENST00000528653,;EIF3F,upstream_gene_variant,,ENST00000530219,;EIF3F,upstream_gene_variant,,ENST00000532882,;							MODERATE	35/1074	P12Q	EIF3F_HUMAN			Transcript		unknown(0)	.	ENSP00000310040		CCDS7785.1			1	
DPH5	0	LGGM	GRCh37	1	101456087	101456087	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000370109.3:c.735G>T	p.Leu245Phe	p.L245F	ENST00000370109	NM_001077395.1	245	ttG/ttT	0	1	1	UPI000003B000	0	NA	ENST00000370109		ENSG00000117543	24270		50	0.285		HGNC	p.L245F		DPH5		SNV							ENST00000370109	protein_coding	getma.org/?cm=var&var=hg19,1,101456087,C,A&fts=all		HAMAP:MF_01084,hmmpanther:PTHR10882,hmmpanther:PTHR10882:SF0,Gene3D:3.30.950.10,TIGRFAM_domain:TIGR00522,PIRSF_domain:PIRSF036432,Superfamily_domains:SSF53790		L/F		A	neutral	848/1316		getma.org/?cm=msa&ty=f&p=DPH5_HUMAN&rb=242&re=285&var=L245F	tolerated(1)	Q96DC6_HUMAN,B3KWP1_HUMAN			YES	DPH5,missense_variant,p.Leu245Phe,ENST00000370109,NM_001077395.1,NM_001077394.1,NM_015958.2;DPH5,missense_variant,p.Leu244Phe,ENST00000342173,;DPH5,missense_variant,p.Leu245Phe,ENST00000488176,;DPH5,missense_variant,p.Leu6Phe,ENST00000427040,;AC093157.1,synonymous_variant,p.=,ENST00000593496,;RP11-421L21.2,upstream_gene_variant,,ENST00000414686,;DPH5,non_coding_transcript_exon_variant,,ENST00000370105,;DPH5,non_coding_transcript_exon_variant,,ENST00000488789,;DPH5,non_coding_transcript_exon_variant,,ENST00000464270,;DPH5,non_coding_transcript_exon_variant,,ENST00000481871,;DPH5,non_coding_transcript_exon_variant,,ENST00000477293,;DPH5,non_coding_transcript_exon_variant,,ENST00000466807,;DPH5,non_coding_transcript_exon_variant,,ENST00000490732,;DPH5,non_coding_transcript_exon_variant,,ENST00000498372,;DPH5,non_coding_transcript_exon_variant,,ENST00000492067,;							MODERATE	735/858	L245F	DPH5_HUMAN			Transcript		benign(0.216)	.	ENSP00000359127		CCDS41358.1			1	
SNAP91	0	LGGM	GRCh37	6	84270651	84270651	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	4	.	.	ENST00000439399.2:c.2458C>A	p.Pro820Thr	p.P820T	ENST00000439399	NM_014841.2	820	Cca/Aca	0	1		UPI0000124FB3	0	NA	ENST00000369694		ENSG00000065609	14986		27	1.845		HGNC	p.P790T		SNAP91		SNV							ENST00000520302	protein_coding	getma.org/?cm=var&var=hg19,6,84270651,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4		P/T		T	low	2772/4449		getma.org/?cm=msa&ty=f&p=AP180_HUMAN&rb=297&re=905&var=P820T	deleterious(0.01)	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN				SNAP91,missense_variant,p.Pro820Thr,ENST00000428679,;SNAP91,missense_variant,p.Pro815Thr,ENST00000521485,;SNAP91,missense_variant,p.Pro820Thr,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Pro820Thr,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Pro815Thr,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Pro820Thr,ENST00000521743,;SNAP91,missense_variant,p.Pro790Thr,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Pro513Thr,ENST00000437520,NM_001242794.1;SNAP91,missense_variant,p.Pro513Thr,ENST00000520213,;SNAP91,missense_variant,p.Pro161Thr,ENST00000523448,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;							MODERATE	2458/2724	P820T	AP180_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000358708		CCDS47455.1			1	
N4BP3	0	LGGM	GRCh37	5	177547622	177547622	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	4	.	.	ENST00000274605.5:c.774G>T	p.Met258Ile	p.M258I	ENST00000274605	NM_015111.1	258	atG/atT	0	1	1	UPI00001C1E2A	0	NA	ENST00000274605		ENSG00000145911	29852		24	-0.345		HGNC	p.M258I		N4BP3		SNV							ENST00000274605	protein_coding	getma.org/?cm=var&var=hg19,5,177547622,G,T&fts=all		hmmpanther:PTHR32274		M/I		T	neutral	1133/6080		getma.org/?cm=msa&ty=f&p=N4BP3_HUMAN&rb=201&re=365&var=M258I	deleterious(0.02)				YES	N4BP3,missense_variant,p.Met258Ile,ENST00000274605,NM_015111.1;							MODERATE	774/1635	M258I	N4BP3_HUMAN			Transcript		benign(0)	.	ENSP00000274605		CCDS34307.1			1	
TMEM145	0	LGGM	GRCh37	19	42818458	42818458	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000301204.3:c.155C>A	p.Ser52Ter	p.S52*	ENST00000301204	NM_173633.2	52	tCg/tAg	0	1	1	UPI000013E6E6	0	NA	ENST00000301204		ENSG00000167619	26912		46	0		HGNC	p.S52X		TMEM145		SNV							ENST00000301204	protein_coding	getma.org/?cm=var&var=hg19,19,42818458,C,A&fts=all		hmmpanther:PTHR23252,hmmpanther:PTHR23252:SF24		S/*		A	NA	196/1768		NA					YES	TMEM145,stop_gained,p.Ser52Ter,ENST00000598766,;TMEM145,stop_gained,p.Ser52Ter,ENST00000301204,NM_173633.2;PRR19,downstream_gene_variant,,ENST00000499536,;PRR19,downstream_gene_variant,,ENST00000598490,;PRR19,downstream_gene_variant,,ENST00000341747,NM_199285.2;PRR19,downstream_gene_variant,,ENST00000595750,;TMEM145,non_coding_transcript_exon_variant,,ENST00000601020,;TMEM145,non_coding_transcript_exon_variant,,ENST00000595775,;							HIGH	155/1482	S52*	TM145_HUMAN			Transcript			.	ENSP00000301204		CCDS12603.1			1	
KMT2C	0	LGGM	GRCh37	7	151860469	151860469	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	76	4	.	.	ENST00000262189.6:c.10193G>T	p.Arg3398Leu	p.R3398L	ENST00000262189	NM_170606.2	3398	cGg/cTg	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		80	1.995		HGNC	p.R3398L		KMT2C		SNV							ENST00000262189	protein_coding	getma.org/?cm=var&var=hg19,7,151860469,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305		R/L		A	medium	10412/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=3236&re=4394&var=R3398L		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Arg3398Leu,ENST00000355193,;KMT2C,missense_variant,p.Arg3398Leu,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Arg904Leu,ENST00000360104,;KMT2C,upstream_gene_variant,,ENST00000424877,;KMT2C,upstream_gene_variant,,ENST00000418061,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;							MODERATE	10193/14736	R3398L	KMT2C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262189		CCDS5931.1			1	
MUC2	0	LGGM	GRCh37	11	1103316	1103316	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000441003.2:c.8066C>A	p.Pro2689Gln	p.P2689Q	ENST00000441003	NM_002457.2	2689	cCg/cAg	0	1	1	UPI00006C10F2	0	NA	ENST00000441003		ENSG00000198788	7512		42	1.7		HGNC	p.P2689Q		MUC2		SNV							ENST00000441003	protein_coding	getma.org/?cm=var&var=hg19,11,1103316,C,A&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261		P/Q		A	low	8093/8637		getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=4959&re=5158&var=P5051Q		Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Pro2689Gln,ENST00000441003,NM_002457.2;MUC2,downstream_gene_variant,,ENST00000361558,;							MODERATE	8066/8454	P5051Q				Transcript		unknown(0)	.	ENSP00000415183					1	
C12orf77	0	LGGM	GRCh37	12	25148965	25148965	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	4	.	.	ENST00000549828.1:c.183C>A	p.Pro61=	p.P61=	ENST00000549828	NM_001101339.1	61	ccC/ccA	0	1	1	UPI000016134F	0		ENST00000549828		ENSG00000226397	27282		18			HGNC	p.P61P		C12orf77		SNV							ENST00000549828	protein_coding					P		T		388/1516							YES	C12orf77,synonymous_variant,p.=,ENST00000549828,NM_001101339.1;C12orf77,synonymous_variant,p.=,ENST00000549262,;C12orf77,synonymous_variant,p.=,ENST00000434912,;							LOW	183/438		CL097_HUMAN			Transcript			.	ENSP00000447146		CCDS44846.1			1	
CD109	0	LGGM	GRCh37	6	74440075	74440075	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000287097.5:c.285G>T	p.Leu95=	p.L95=	ENST00000287097		95	ctG/ctT	0	1	1	UPI000013DE92	0		ENST00000287097		ENSG00000156535	21685		45			HGNC	p.L95L		CD109		SNV			1				ENST00000437994	protein_coding			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29		L		T		397/9130				Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN			YES	CD109,synonymous_variant,p.=,ENST00000437994,NM_133493.3,NM_001159587.1;CD109,synonymous_variant,p.=,ENST00000287097,;CD109,intron_variant,,ENST00000422508,NM_001159588.1;							LOW	285/4338		CD109_HUMAN			Transcript			.	ENSP00000287097		CCDS4982.1			1	
DDX60	0	LGGM	GRCh37	4	169167631	169167631	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	4	.	.	ENST00000393743.3:c.4102C>A	p.Leu1368Met	p.L1368M	ENST00000393743	NM_017631.5	1368	Ctg/Atg	0	1	1	UPI000020B6AB	0	getma.org/pdb.php?prot=DDX60_HUMAN&from=1226&to=1370&var=L1368M	ENST00000393743		ENSG00000137628	25942		28	0.415		HGNC	p.L1368M		DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169167631,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752		L/M		T	neutral	4394/6071		getma.org/?cm=msa&ty=f&p=DDX60_HUMAN&rb=1226&re=1370&var=L1368M	tolerated(0.08)	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,missense_variant,p.Leu1368Met,ENST00000393743,NM_017631.5;							MODERATE	4102/5139	L1368M	DDX60_HUMAN			Transcript		possibly_damaging(0.685)	.	ENSP00000377344		CCDS34097.1			1	
COL1A1	0	LGGM	GRCh37	17	48264046	48264046	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	4	.	.	ENST00000225964.5:c.3769C>A	p.Arg1257Ser	p.R1257S	ENST00000225964	NM_000088.3	1257	Cgc/Agc	0	1	1	UPI000013C88B	0	NA	ENST00000225964		ENSG00000108821	2197		29	3.78		HGNC	p.R1257S		COL1A1		SNV			1				ENST00000225964	protein_coding	getma.org/?cm=var&var=hg19,17,48264046,G,T&fts=all		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01410,SMART_domains:SM00038		R/S		T	high	3888/6727		getma.org/?cm=msa&ty=f&p=CO1A1_HUMAN&rb=1245&re=1463&var=R1257S		Q9UMA6_HUMAN,Q6LAN8_HUMAN			YES	COL1A1,missense_variant,p.Arg1257Ser,ENST00000225964,NM_000088.3;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,;							MODERATE	3769/4395	R1257S	CO1A1_HUMAN			Transcript		unknown(0)	.	ENSP00000225964		CCDS11561.1			1	
NLRP4	0	LGGM	GRCh37	19	56369488	56369488	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000301295.6:c.729C>A	p.Pro243=	p.P243=	ENST00000301295	NM_134444.4	243	ccC/ccA	0	1	1	UPI000013E6FD	0		ENST00000301295		ENSG00000160505	22943		46			HGNC	p.P243P		NLRP4		SNV							ENST00000346986	protein_coding			PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Pfam_domain:PF05729		P		A		1151/3670				K7ES09_HUMAN			YES	NLRP4,synonymous_variant,p.=,ENST00000301295,NM_134444.4;NLRP4,synonymous_variant,p.=,ENST00000346986,;NLRP4,synonymous_variant,p.=,ENST00000587891,;NLRP4,upstream_gene_variant,,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;							LOW	729/2985		NALP4_HUMAN			Transcript			.	ENSP00000301295		CCDS12936.1			1	
COL12A1	0	LGGM	GRCh37	6	75843058	75843058	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000322507.8:c.5745C>A	p.Pro1915=	p.P1915=	ENST00000322507	NM_004370.5	1915	ccC/ccA	0	1	1	UPI000045890B	0		ENST00000322507		ENSG00000111799	2188		36			HGNC	p.P751P		COL12A1		SNV			1				ENST00000345356	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		T		6055/11723							YES	COL12A1,synonymous_variant,p.=,ENST00000322507,NM_004370.5;COL12A1,synonymous_variant,p.=,ENST00000483888,;COL12A1,synonymous_variant,p.=,ENST00000416123,;COL12A1,synonymous_variant,p.=,ENST00000345356,NM_080645.2;COL12A1,downstream_gene_variant,,ENST00000419671,;							LOW	5745/9192		COCA1_HUMAN			Transcript			.	ENSP00000325146		CCDS43482.1			1	
GPR161	0	LGGM	GRCh37	1	168054781	168054781	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000537209.1:c.1638C>A	p.Ala546=	p.A546=	ENST00000537209	NM_001267609.1	546	gcC/gcA	0	1		UPI00000725FD	0		ENST00000367835		ENSG00000143147	23694		44			HGNC	p.A526A		GPR161		SNV			1				ENST00000367838	protein_coding					A		T		2135/2400								GPR161,synonymous_variant,p.=,ENST00000367838,NM_153832.2,NM_001267611.1;GPR161,synonymous_variant,p.=,ENST00000271357,;GPR161,synonymous_variant,p.=,ENST00000367835,NM_001267610.1;GPR161,synonymous_variant,p.=,ENST00000537209,NM_001267609.1;GPR161,synonymous_variant,p.=,ENST00000361697,;GPR161,synonymous_variant,p.=,ENST00000367836,NM_001267612.1;GPR161,synonymous_variant,p.=,ENST00000539777,NM_001267613.1;GPR161,synonymous_variant,p.=,ENST00000546300,NM_001267614.1;GPR161,non_coding_transcript_exon_variant,,ENST00000478868,;GPR161,downstream_gene_variant,,ENST00000493800,;							LOW	1578/1590		GP161_HUMAN			Transcript			.	ENSP00000356809		CCDS1268.1			1	
UPRT	0	LGGM	GRCh37	X	74519572	74519572	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	4	.	.	ENST00000373383.4:c.565G>T	p.Glu189Ter	p.E189*	ENST00000373383	NM_145052.3	189	Gag/Tag	0	1	1	UPI000004B62E	0	NA	ENST00000373383		ENSG00000094841	28334		24	0		HGNC	p.E189X		UPRT		SNV							ENST00000373379	protein_coding	getma.org/?cm=var&var=hg19,X,74519572,G,T&fts=all		Gene3D:3.40.50.2020,Pfam_domain:PF14681,hmmpanther:PTHR10285,Superfamily_domains:SSF53271		E/*		T	NA	732/2186		NA		E9PSD7_HUMAN,A8KAF9_HUMAN			YES	UPRT,stop_gained,p.Glu189Ter,ENST00000373379,;UPRT,stop_gained,p.Glu189Ter,ENST00000373383,NM_145052.3;UPRT,stop_gained,p.Glu53Ter,ENST00000530743,;UPRT,splice_region_variant,,ENST00000474175,;UPRT,splice_region_variant,,ENST00000526850,;UPRT,downstream_gene_variant,,ENST00000531704,;UPRT,splice_region_variant,,ENST00000462237,;							HIGH	565/930	E189*	UPP_HUMAN			Transcript			.	ENSP00000362481		CCDS14429.1			1	
KDR	0	LGGM	GRCh37	4	55956239	55956239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000263923.4:c.3076C>A	p.His1026Asn	p.H1026N	ENST00000263923	NM_002253.2	1026	Cac/Aac	0	1	1	UPI000003AE04	0	getma.org/pdb.php?prot=VGFR2_HUMAN&from=834&to=1160&var=H1026N	ENST00000263923		ENSG00000128052	6307		35	3.95		HGNC	p.H1026N		KDR		SNV			1				ENST00000263923	protein_coding	getma.org/?cm=var&var=hg19,4,55956239,G,T&fts=all		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		H/N		T	high	3372/5831		getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=834&re=1160&var=H1026N	deleterious(0)	B4DEK3_HUMAN			YES	KDR,missense_variant,p.His1026Asn,ENST00000263923,NM_002253.2;RP11-530I17.1,intron_variant,,ENST00000511222,;KDR,downstream_gene_variant,,ENST00000509309,;							MODERATE	3076/4071	H1026N	VGFR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263923		CCDS3497.1			1	
TTC27	0	LGGM	GRCh37	2	32983473	32983473	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	4	.	.	ENST00000317907.4:c.1567C>A	p.Arg523=	p.R523=	ENST00000317907	NM_017735.4	523	Cgg/Agg	0	1	1	UPI0000208226	0		ENST00000317907		ENSG00000018699	25986		67			HGNC	p.R523R	COSM1407861	TTC27		SNV						1	ENST00000317907	protein_coding			hmmpanther:PTHR16193,Gene3D:1.25.40.10		R		A		1798/2876				C9JVS4_HUMAN,B4DRC7_HUMAN			YES	TTC27,synonymous_variant,p.=,ENST00000317907,NM_017735.4,NM_001193509.1;TTC27,synonymous_variant,p.=,ENST00000433416,;					1		LOW	1567/2532		TTC27_HUMAN			Transcript			.	ENSP00000313953		CCDS33176.1			1	
NOP56	0	LGGM	GRCh37	20	2636276	2636276	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	4	.	.	ENST00000329276.5:c.793G>T	p.Glu265Ter	p.E265*	ENST00000329276	NM_006392.3	265	Gag/Tag	0	1	1	UPI000016A81D	0	NA	ENST00000329276		ENSG00000101361	15911		77	0		HGNC	p.E265X		NOP56		SNV			1				ENST00000329276	protein_coding	getma.org/?cm=var&var=hg19,20,2636276,G,T&fts=all		hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894,Pfam_domain:PF01798,Superfamily_domains:SSF89124		E/*		T	NA	1309/2400		NA		Q9BSN3_HUMAN			YES	NOP56,stop_gained,p.Glu265Ter,ENST00000329276,NM_006392.3;NOP56,stop_gained,p.Glu6Ter,ENST00000415272,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.3;IDH3B,downstream_gene_variant,,ENST00000380851,NM_001258384.1,NM_174855.2;NOP56,downstream_gene_variant,,ENST00000445139,;SNORA51,downstream_gene_variant,,ENST00000606420,NR_002981.1;SNORD86,upstream_gene_variant,,ENST00000391196,NR_004399.1;SNORD110,downstream_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,,ENST00000484998,;NOP56,non_coding_transcript_exon_variant,,ENST00000480992,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000474315,;NOP56,upstream_gene_variant,,ENST00000492135,;NOP56,upstream_gene_variant,,ENST00000466447,;IDH3B,downstream_gene_variant,,ENST00000492240,;IDH3B,downstream_gene_variant,,ENST00000462967,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,downstream_gene_variant,,ENST00000460258,;IDH3B,downstream_gene_variant,,ENST00000491065,;NOP56,upstream_gene_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000496775,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,upstream_gene_variant,,ENST00000480447,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000471023,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000479376,;NOP56,stop_gained,p.Glu39Ter,ENST00000467196,;							HIGH	793/1785	E265*	NOP56_HUMAN			Transcript			.	ENSP00000370589		CCDS13030.1			1	
PTPN1	0	LGGM	GRCh37	20	49196409	49196409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000371621.3:c.1034C>A	p.Pro345His	p.P345H	ENST00000371621	NM_001278618.1	345	cCc/cAc	0	1	1	UPI000011DD79	0	NA	ENST00000371621		ENSG00000196396	9642		35	0		HGNC	p.P345H		PTPN1		SNV							ENST00000371621	protein_coding	getma.org/?cm=var&var=hg19,20,49196409,C,A&fts=all		PIRSF_domain:PIRSF000926,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF239		P/H		A	neutral	1208/3529		getma.org/?cm=msa&ty=f&p=PTN1_HUMAN&rb=301&re=434&var=P345H	tolerated_low_confidence(0.12)	B4DSN5_HUMAN,A8K3M3_HUMAN			YES	PTPN1,missense_variant,p.Pro345His,ENST00000371621,NM_001278618.1,NM_002827.3;PTPN1,missense_variant,p.Pro272His,ENST00000541713,;RP4-530I15.9,upstream_gene_variant,,ENST00000431019,;							MODERATE	1034/1308	P345H	PTN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000360683		CCDS13430.1			1	
SOAT2	0	LGGM	GRCh37	12	53513037	53513037	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	4	.	.	ENST00000301466.3:c.1039G>T	p.Gly347Cys	p.G347C	ENST00000301466	NM_003578.3	347	Ggc/Tgc	0	1	1	UPI0000135B61	0	NA	ENST00000301466		ENSG00000167780	11178		11	2.425		HGNC	p.G347C	COSM940922	SOAT2		SNV						1	ENST00000301466	protein_coding	getma.org/?cm=var&var=hg19,12,53513037,G,T&fts=all		Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF10,Transmembrane_helices:TMhelix		G/C		T	medium	1099/2044		getma.org/?cm=msa&ty=f&p=SOAT2_HUMAN&rb=150&re=494&var=G347C	deleterious(0)				YES	SOAT2,missense_variant,p.Gly347Cys,ENST00000301466,NM_003578.3;SOAT2,downstream_gene_variant,,ENST00000551896,;SOAT2,splice_region_variant,,ENST00000542365,;					1		MODERATE	1039/1569	G347C	SOAT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000301466		CCDS8847.1			1	
NPEPPS	0	LGGM	GRCh37	17	45682896	45682896	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000322157.4:c.2073C>A	p.Gly691=	p.G691=	ENST00000322157	NM_006310.3	691	ggC/ggA	0	1	1	UPI0000140D51	0		ENST00000322157		ENSG00000141279	7900		26			HGNC	p.G691G		NPEPPS		SNV							ENST00000322157	protein_coding			hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF163,Pfam_domain:PF11838		G		A		2310/4353				E9PJ74_HUMAN,B7Z1H4_HUMAN			YES	NPEPPS,synonymous_variant,p.=,ENST00000322157,NM_006310.3;NPEPPS,synonymous_variant,p.=,ENST00000530173,;NPEPPS,synonymous_variant,p.=,ENST00000544660,;RP11-580I16.2,intron_variant,,ENST00000582389,;RP11-580I16.2,intron_variant,,ENST00000582066,;NPEPPS,3_prime_UTR_variant,,ENST00000530514,;NPEPPS,3_prime_UTR_variant,,ENST00000525048,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000531486,;NPEPPS,downstream_gene_variant,,ENST00000534807,;							LOW	2073/2760		PSA_HUMAN			Transcript			.	ENSP00000320324		CCDS45721.1			1	
CEP68	0	LGGM	GRCh37	2	65299889	65299889	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	4	.	.	ENST00000377990.2:c.1659C>A	p.Gly553=	p.G553=	ENST00000377990	NM_015147.2	553	ggC/ggA	0	1	1	UPI0000505465	0		ENST00000377990		ENSG00000011523	29076		39			HGNC	p.G553G		CEP68		SNV							ENST00000546106	protein_coding			hmmpanther:PTHR14514		G		A		1862/5847				Q53RN6_HUMAN			YES	CEP68,synonymous_variant,p.=,ENST00000377990,NM_015147.2;CEP68,synonymous_variant,p.=,ENST00000537589,;CEP68,synonymous_variant,p.=,ENST00000546106,;CEP68,intron_variant,,ENST00000260569,;CEP68,intron_variant,,ENST00000497039,;RAB1A,intron_variant,,ENST00000494188,;CEP68,downstream_gene_variant,,ENST00000475851,;							LOW	1659/2274		CEP68_HUMAN			Transcript			.	ENSP00000367229		CCDS1880.2			1	
CCDC107	0	LGGM	GRCh37	9	35660880	35660880	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000426546.2:c.548C>A	p.Ala183Asp	p.A183D	ENST00000426546	NM_001195201.1	183	gCt/gAt	0	1	1	UPI000013E02B	0	NA	ENST00000426546		ENSG00000159884	28465		47	0.69		HGNC	p.A183D		CCDC107		SNV							ENST00000426546	protein_coding	getma.org/?cm=var&var=hg19,9,35660880,C,A&fts=all		Low_complexity_(Seg):seg		A/D		A	neutral	614/1242		getma.org/?cm=msa&ty=f&p=CC107_HUMAN&rb=1&re=280&var=A183D	tolerated_low_confidence(0.53)				YES	CCDC107,missense_variant,p.Ala183Asp,ENST00000426546,NM_001195201.1,NM_174923.2,NM_001195200.1,NM_001195217.1;ARHGEF39,3_prime_UTR_variant,,ENST00000378387,NM_032818.2;ARHGEF39,3_prime_UTR_variant,,ENST00000378395,;ARHGEF39,3_prime_UTR_variant,,ENST00000343259,;CCDC107,3_prime_UTR_variant,,ENST00000421582,;CCDC107,3_prime_UTR_variant,,ENST00000378406,;CCDC107,3_prime_UTR_variant,,ENST00000378407,;CCDC107,intron_variant,,ENST00000327351,;CCDC107,intron_variant,,ENST00000378409,;RMRP,upstream_gene_variant,,ENST00000602361,;RMRP,upstream_gene_variant,,ENST00000363046,;ARHGEF39,downstream_gene_variant,,ENST00000490970,;ARHGEF39,downstream_gene_variant,,ENST00000468876,;ARHGEF39,downstream_gene_variant,,ENST00000488918,;ARHGEF39,3_prime_UTR_variant,,ENST00000490638,;ARHGEF39,3_prime_UTR_variant,,ENST00000475323,;							MODERATE	548/852	A183D	CC107_HUMAN			Transcript		benign(0.07)	.	ENSP00000414964		CCDS6583.1			1	
AP3B2	0	LGGM	GRCh37	15	83349762	83349762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000261722.3:c.598G>T	p.Gly200Cys	p.G200C	ENST00000261722	NM_004644.4	200	Ggc/Tgc	0	1	1	UPI0000125030	0	getma.org/pdb.php?prot=AP3B2_HUMAN&from=34&to=590&var=G200C	ENST00000261722		ENSG00000103723	567		42	3.715		HGNC	p.G200C		AP3B2		SNV							ENST00000535359	protein_coding	getma.org/?cm=var&var=hg19,15,83349762,C,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Superfamily_domains:SSF48371		G/C		A	high	806/3736		getma.org/?cm=msa&ty=f&p=AP3B2_HUMAN&rb=34&re=590&var=G200C	deleterious(0)	F5GWU4_HUMAN			YES	AP3B2,missense_variant,p.Gly200Cys,ENST00000261722,NM_004644.4;AP3B2,missense_variant,p.Gly200Cys,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Gly168Cys,ENST00000535348,NM_001278511.1;AP3B2,missense_variant,p.Gly156Cys,ENST00000541693,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000559888,;AP3B2,upstream_gene_variant,,ENST00000543938,;AP3B2,downstream_gene_variant,,ENST00000535385,;							MODERATE	598/3249	G200C	AP3B2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261722		CCDS45331.1			1	
NR1H2	0	LGGM	GRCh37	19	50882279	50882279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000253727.5:c.768C>A	p.Asp256Glu	p.D256E	ENST00000253727	NM_007121.5	256	gaC/gaA	0	1	1	UPI000013CDEE	0	getma.org/pdb.php?prot=NR1H2_HUMAN&from=253&to=448&var=D256E	ENST00000253727		ENSG00000131408	7965		32	0.95		HGNC	p.D256E	rs573467332	NR1H2		SNV							ENST00000253727	protein_coding	getma.org/?cm=var&var=hg19,19,50882279,C,A&fts=all	T:0	Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF110,Superfamily_domains:SSF48508		D/E		A	low	1003/1998	3.11E-05	getma.org/?cm=msa&ty=f&p=NR1H2_HUMAN&rb=253&re=448&var=D256E	tolerated(0.3)	M0R3A7_HUMAN,M0R1V8_HUMAN,M0QZF5_HUMAN,M0QYE6_HUMAN,F1D8P7_HUMAN	T:0	T:0.004	YES	NR1H2,missense_variant,p.Asp256Glu,ENST00000253727,NM_007121.5;NR1H2,missense_variant,p.Asp256Glu,ENST00000593926,;NR1H2,missense_variant,p.Asp159Glu,ENST00000411902,NM_001256647.1;NR1H2,intron_variant,,ENST00000542413,;NR1H2,intron_variant,,ENST00000598168,;NR1H2,intron_variant,,ENST00000599105,;NR1H2,downstream_gene_variant,,ENST00000597130,;NR1H2,downstream_gene_variant,,ENST00000597157,;NR1H2,downstream_gene_variant,,ENST00000597790,;NR1H2,downstream_gene_variant,,ENST00000600355,;NR1H2,non_coding_transcript_exon_variant,,ENST00000597085,;NR1H2,intron_variant,,ENST00000593532,;NR1H2,downstream_gene_variant,,ENST00000595730,;		T:0.0008					MODERATE	768/1383	D256E	NR1H2_HUMAN		T:0	Transcript		benign(0.006)	.	ENSP00000253727	1.65E-05	CCDS42593.1		T:0	1	
PRKCA	0	LGGM	GRCh37	17	64738740	64738740	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000413366.3:c.1386G>T	p.Arg462Ser	p.R462S	ENST00000413366	NM_002737.2	462	agG/agT	0	1	1	UPI000013DD98	0	getma.org/pdb.php?prot=KPCA_HUMAN&from=339&to=597&var=R462S	ENST00000413366		ENSG00000154229	9393		44	3.885		HGNC	p.R462S		PRKCA		SNV							ENST00000413366	protein_coding	getma.org/?cm=var&var=hg19,17,64738740,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24357:SF65,hmmpanther:PTHR24357,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000550,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/S		T	high	1412/8751		getma.org/?cm=msa&ty=f&p=KPCA_HUMAN&rb=339&re=597&var=R462S	deleterious(0.01)	L7RSM7_HUMAN			YES	PRKCA,missense_variant,p.Arg462Ser,ENST00000413366,NM_002737.2;PRKCA,splice_region_variant,,ENST00000284384,;							MODERATE	1386/2019	R462S	KPCA_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000408695		CCDS11664.1			1	
CAPZB	0	LGGM	GRCh37	1	19712012	19712012	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	4	.	.	ENST00000375142.1:c.202G>T	p.Gly68Trp	p.G68W	ENST00000375142	NM_001206540.1	68	Ggg/Tgg	0	1	1	UPI0000126EDB	0	getma.org/pdb.php?prot=CAPZB_HUMAN&from=5&to=240&var=G68W	ENST00000375142		ENSG00000077549	1491		19	3.66		HGNC	p.G68W		CAPZB		SNV							ENST00000401084	protein_coding	getma.org/?cm=var&var=hg19,1,19712012,C,A&fts=all		Pfam_domain:PF01115,Prints_domain:PR00192,hmmpanther:PTHR10619,Superfamily_domains:SSF90096		G/W		A	high	249/1686		getma.org/?cm=msa&ty=f&p=CAPZB_HUMAN&rb=5&re=240&var=G68W	deleterious(0)	F6USW4_HUMAN			YES	CAPZB,missense_variant,p.Gly94Trp,ENST00000264203,NM_001206541.2;CAPZB,missense_variant,p.Gly68Trp,ENST00000401084,NM_004930.3,NM_001282162.1;CAPZB,missense_variant,p.Gly68Trp,ENST00000375142,NM_001206540.1;CAPZB,missense_variant,p.Gly56Trp,ENST00000375144,;CAPZB,missense_variant,p.Gly97Trp,ENST00000433834,;CAPZB,missense_variant,p.Gly68Trp,ENST00000264202,;CAPZB,missense_variant,p.Gly56Trp,ENST00000413711,;CAPZB,missense_variant,p.Gly40Trp,ENST00000457768,;CAPZB,non_coding_transcript_exon_variant,,ENST00000482808,;CAPZB,non_coding_transcript_exon_variant,,ENST00000459967,;CAPZB,non_coding_transcript_exon_variant,,ENST00000489607,;							MODERATE	202/834	G68W	CAPZB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364284		CCDS55579.1			1	
OR2T27	0	LGGM	GRCh37	1	248813915	248813915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	4	.	.	ENST00000344889.3:c.271G>T	p.Ala91Ser	p.A91S	ENST00000344889	NM_001001824.1	91	Gcc/Tcc	0	1	1	UPI000004F239	0	getma.org/pdb.php?prot=OR2T7_HUMAN&from=1&to=129&var=A82S	ENST00000344889		ENSG00000187701	31252		21	-1.275		HGNC	p.A91S		OR2T27		SNV							ENST00000344889	protein_coding	getma.org/?cm=var&var=hg19,1,248813915,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		A/S		A	neutral	271/954		getma.org/?cm=msa&ty=f&p=OR2T7_HUMAN&rb=1&re=129&var=A82S	tolerated(0.53)				YES	OR2T27,missense_variant,p.Ala91Ser,ENST00000344889,NM_001001824.1;							MODERATE	271/954	A82S	O2T27_HUMAN			Transcript		benign(0.004)	.	ENSP00000342008		CCDS31124.1			1	
ARRDC3	0	LGGM	GRCh37	5	90670951	90670951	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000265138.3:c.658C>A	p.Arg220=	p.R220=	ENST00000265138	NM_020801.2	220	Cga/Aga	0	1	1	UPI000006F2E2	0		ENST00000265138		ENSG00000113369	29263		45			HGNC	p.R220R		ARRDC3		SNV							ENST00000265138	protein_coding			Gene3D:1g4mB02,Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF49,SMART_domains:SM01017,Superfamily_domains:SSF81296		R		T		925/4188							YES	ARRDC3,synonymous_variant,p.=,ENST00000265138,NM_020801.2;ARRDC3,non_coding_transcript_exon_variant,,ENST00000514284,;ARRDC3,downstream_gene_variant,,ENST00000503192,;ARRDC3,downstream_gene_variant,,ENST00000508948,;ARRDC3,non_coding_transcript_exon_variant,,ENST00000505631,;ARRDC3,upstream_gene_variant,,ENST00000511391,;ARRDC3,downstream_gene_variant,,ENST00000507075,;							LOW	658/1245		ARRD3_HUMAN			Transcript			.	ENSP00000265138		CCDS34202.1			1	
MUC16	0	LGGM	GRCh37	19	9009307	9009307	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000397910.4:c.39166G>T	p.Val13056Phe	p.V13056F	ENST00000397910	NM_024690.2	13056	Gtc/Ttc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13010&to=13120&var=V13058F	ENST00000397910		ENSG00000181143	15582		42	2.505		HGNC	p.V13056F		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9009307,C,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		V/F		A	medium	39370/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13010&re=13120&var=V13058F		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Val13056Phe,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,;							MODERATE	39166/43524	V13058F				Transcript		probably_damaging(0.949)	.	ENSP00000381008		CCDS54212.1			1	
KIAA1462	0	LGGM	GRCh37	10	30336563	30336563	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	4	.	.	ENST00000375377.1:c.179C>A	p.Ser60Tyr	p.S60Y	ENST00000375377	NM_020848.2	60	tCc/tAc	0	1	1	UPI00001D8117	0	NA	ENST00000375377		ENSG00000165757	29283		19	1.61		HGNC	p.S60Y		KIAA1462		SNV							ENST00000375377	protein_coding	getma.org/?cm=var&var=hg19,10,30336563,G,T&fts=all		Pfam_domain:PF15351		S/Y		T	low	281/9265		getma.org/?cm=msa&ty=f&p=JCAD_HUMAN&rb=1&re=200&var=S60Y	tolerated(0.11)				YES	KIAA1462,missense_variant,p.Ser60Tyr,ENST00000375377,NM_020848.2;KIAA1462,non_coding_transcript_exon_variant,,ENST00000465712,;							MODERATE	179/4080	S60Y	JCAD_HUMAN			Transcript		benign(0.045)	.	ENSP00000364526		CCDS41500.1			1	
RP1L1	0	LGGM	GRCh37	8	10470168	10470168	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	4	.	.	ENST00000382483.3:c.1440G>T	p.Val480=	p.V480=	ENST00000382483	NM_178857.5	480	gtG/gtT	0	1	1	UPI00001AF9CC	0		ENST00000382483		ENSG00000183638	15946		13			HGNC	p.V480V		RP1L1		SNV			1				ENST00000382483	protein_coding			hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005		V		A		1664/7973				A6NKC6_HUMAN			YES	RP1L1,synonymous_variant,p.=,ENST00000382483,NM_178857.5;							LOW	1440/7203					Transcript			.	ENSP00000371923		CCDS43708.1			1	
NOM1	0	LGGM	GRCh37	7	156752775	156752775	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	4	.	.	ENST00000275820.3:c.1539G>T	p.Leu513Phe	p.L513F	ENST00000275820	NM_138400.1	513	ttG/ttT	0	1	1	UPI000020E71F	0	NA	ENST00000275820		ENSG00000146909	13244		44	3.43		HGNC	p.L513F		NOM1		SNV							ENST00000275820	protein_coding	getma.org/?cm=var&var=hg19,7,156752775,G,T&fts=all		Superfamily_domains:SSF48371,SMART_domains:SM00543,Gene3D:1.25.40.180,Pfam_domain:PF02854,hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034		L/F		T	medium	1554/6077		getma.org/?cm=msa&ty=f&p=NOM1_HUMAN&rb=362&re=559&var=L513F	deleterious(0)				YES	NOM1,missense_variant,p.Leu513Phe,ENST00000275820,NM_138400.1;NOM1,non_coding_transcript_exon_variant,,ENST00000460332,;NOM1,non_coding_transcript_exon_variant,,ENST00000475176,;NOM1,upstream_gene_variant,,ENST00000469271,;NOM1,upstream_gene_variant,,ENST00000472491,;NOM1,upstream_gene_variant,,ENST00000489850,;							MODERATE	1539/2583	L513F	NOM1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000275820		CCDS34787.1			1	
STOML3	0	LGGM	GRCh37	13	39542597	39542597	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	4	.	.	ENST00000379631.4:c.591C>A	p.Pro197=	p.P197=	ENST00000379631	NM_145286.2	197	ccC/ccA	0	1	1	UPI000003615B	0		ENST00000379631		ENSG00000133115	19420		82			HGNC	p.P197P		STOML3		SNV							ENST00000379631	protein_coding			hmmpanther:PTHR10264:SF75,hmmpanther:PTHR10264,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593,Prints_domain:PR00721		P		T		936/2121							YES	STOML3,synonymous_variant,p.=,ENST00000379631,NM_145286.2;STOML3,synonymous_variant,p.=,ENST00000423210,NM_001144033.1;							LOW	591/876		STML3_HUMAN			Transcript			.	ENSP00000368952		CCDS9367.1			1	
FAT1	0	LGGM	GRCh37	4	187538979	187538979	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	60	4	.	.	ENST00000441802.2:c.8761G>T	p.Glu2921Ter	p.E2921*	ENST00000441802	NM_005245.3	2921	Gag/Tag	0	1	1	UPI000051946B	0	NA	ENST00000441802		ENSG00000083857	3595		64	0		HGNC	p.E2921X		FAT1		SNV							ENST00000441802	protein_coding	getma.org/?cm=var&var=hg19,4,187538979,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		E/*		A	NA	8971/14786		NA		D6RCE4_HUMAN			YES	FAT1,stop_gained,p.Glu2921Ter,ENST00000441802,NM_005245.3;							HIGH	8761/13767	E2921*	FAT1_HUMAN			Transcript			.	ENSP00000406229		CCDS47177.1			1	
PLCB3	0	LGGM	GRCh37	11	64022416	64022416	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	2	4	.	.	ENST00000540288.1:c.293G>T	p.Arg98Leu	p.R98L	ENST00000540288	NM_000932.2	98	cGg/cTg	0	1		UPI0000131AFF	0	getma.org/pdb.php?prot=PLCB3_HUMAN&from=1&to=200&var=R98L	ENST00000279230		ENSG00000149782	9056		6	1.5		HGNC	p.R98L	rs746775656	PLCB3		SNV							ENST00000279230	protein_coding	getma.org/?cm=var&var=hg19,11,64022416,G,T&fts=all		hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336,Gene3D:2.30.29.30,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF50729		R/L		T	low	420/4197	1.54E-05	getma.org/?cm=msa&ty=f&p=PLCB3_HUMAN&rb=1&re=200&var=R98L	tolerated(0.08)					PLCB3,missense_variant,p.Arg98Leu,ENST00000540288,NM_000932.2;PLCB3,missense_variant,p.Arg98Leu,ENST00000279230,;PLCB3,splice_region_variant,,ENST00000325234,NM_001184883.1;							MODERATE	293/3705	R98L	PLCB3_HUMAN			Transcript		benign(0.406)	.	ENSP00000279230	8.24E-06	CCDS8064.1			1	
TMEM150B	0	LGGM	GRCh37	19	55831934	55831934	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000326652.4:c.120C>A	p.Pro40=	p.P40=	ENST00000326652	NM_001282011.1	40	ccC/ccA	0	1	1	UPI00001AF4D4	0		ENST00000326652		ENSG00000180061	34415		47			HGNC	p.P40P	COSM3378843	TMEM150B		SNV						1	ENST00000438693	protein_coding			Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF3		P		T		303/943				K7EM00_HUMAN,K7EKL2_HUMAN			YES	TMEM150B,synonymous_variant,p.=,ENST00000326652,NM_001282011.1;TMEM150B,synonymous_variant,p.=,ENST00000438693,NM_001085488.1;TMEM150B,synonymous_variant,p.=,ENST00000591570,;TMEM150B,upstream_gene_variant,,ENST00000585918,;TMEM150B,synonymous_variant,p.=,ENST00000586609,;TMEM150B,synonymous_variant,p.=,ENST00000592603,;TMEM150B,synonymous_variant,p.=,ENST00000592731,;TMEM150B,non_coding_transcript_exon_variant,,ENST00000592891,;					1		LOW	120/702		T150B_HUMAN			Transcript			.	ENSP00000320757		CCDS42629.1			1	
DSG1	0	LGGM	GRCh37	18	28934569	28934569	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000257192.4:c.2410G>T	p.Gly804Cys	p.G804C	ENST00000257192	NM_001942.2	804	Ggc/Tgc	0	1	1	UPI000013CF4C	0	NA	ENST00000257192		ENSG00000134760	3048		46	2.7		HGNC	p.G804C		DSG1		SNV			1				ENST00000257192	protein_coding	getma.org/?cm=var&var=hg19,18,28934569,G,T&fts=all		hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF9		G/C		T	medium	2622/5045		getma.org/?cm=msa&ty=f&p=DSG1_HUMAN&rb=766&re=965&var=G804C	deleterious(0)	B7Z845_HUMAN			YES	DSG1,missense_variant,p.Gly804Cys,ENST00000257192,NM_001942.2;DSG1,missense_variant,p.Gly163Cys,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,;							MODERATE	2410/3150	G804C	DSG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000257192		CCDS11896.1			1	
IGF2BP2	0	LGGM	GRCh37	3	185364876	185364876	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	52	4	.	.	ENST00000382199.2:c.1644C>A	p.Asp548Glu	p.D548E	ENST00000382199	NM_006548.4	548	gaC/gaA	0	1	1	UPI000013C5B6	0	getma.org/pdb.php?prot=IF2B2_HUMAN&from=511&to=575&var=D548E	ENST00000382199		ENSG00000073792	28867		56	1.39		HGNC	p.D554E		IGF2BP2		SNV							ENST00000457616	protein_coding	getma.org/?cm=var&var=hg19,3,185364876,G,T&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF93,hmmpanther:PTHR10288,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		D/E		T	low	1740/3688		getma.org/?cm=msa&ty=f&p=IF2B2_HUMAN&rb=511&re=575&var=D548E	tolerated(0.35)				YES	IGF2BP2,missense_variant,p.Asp548Glu,ENST00000382199,NM_006548.4;IGF2BP2,missense_variant,p.Asp554Glu,ENST00000457616,;IGF2BP2,missense_variant,p.Asp491Glu,ENST00000421047,;IGF2BP2,missense_variant,p.Asp505Glu,ENST00000346192,NM_001007225.1;IGF2BP2,non_coding_transcript_exon_variant,,ENST00000464166,;IGF2BP2,downstream_gene_variant,,ENST00000494906,;							MODERATE	1644/1800	D548E	IF2B2_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000371634		CCDS3273.2			1	
XDH	0	LGGM	GRCh37	2	31560551	31560551	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000379416.3:c.3907C>A	p.Pro1303Thr	p.P1303T	ENST00000379416	NM_000379.3	1303	Ccg/Acg	0	1	1	UPI0000036BC9	0	getma.org/pdb.php?prot=XDH_HUMAN&from=1238&to=1333&var=P1303T	ENST00000379416		ENSG00000158125	12805		26	2.83		HGNC	p.P1303T		XDH		SNV			1				ENST00000379416	protein_coding	getma.org/?cm=var&var=hg19,2,31560551,G,T&fts=all		Superfamily_domains:SSF56003,PIRSF_domain:PIRSF000127,Gene3D:3.30.365.10,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908		P/T		T	medium	3956/5688		getma.org/?cm=msa&ty=f&p=XDH_HUMAN&rb=1238&re=1333&var=P1303T	deleterious(0.03)	Q585T6_HUMAN			YES	XDH,missense_variant,p.Pro1303Thr,ENST00000379416,NM_000379.3;							MODERATE	3907/4002	P1303T	XDH_HUMAN			Transcript		benign(0.021)	.	ENSP00000368727		CCDS1775.1			1	
ZRSR2	0	LGGM	GRCh37	X	15833889	15833889	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000307771.7:c.647G>T	p.Arg216Met	p.R216M	ENST00000307771	NM_005089.3	216	aGg/aTg	0	1	1	UPI0000137929	0	NA	ENST00000307771		ENSG00000169249	23019		35	1.53		HGNC	p.R216M	COSM1234801	ZRSR2		SNV						1	ENST00000307771	protein_coding	getma.org/?cm=var&var=hg19,X,15833889,G,T&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR12620:SF6,hmmpanther:PTHR12620,Gene3D:3.30.70.330		R/M		T	low	671/1491		getma.org/?cm=msa&ty=f&p=U2AFM_HUMAN&rb=198&re=304&var=R216M	tolerated(0.1)				YES	ZRSR2,missense_variant,p.Arg216Met,ENST00000307771,NM_005089.3;					1		MODERATE	647/1449	R216M	U2AFM_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000303015		CCDS14172.1			1	
SNRNP200	0	LGGM	GRCh37	2	96952837	96952837	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000323853.5:c.3546C>A	p.Pro1182=	p.P1182=	ENST00000323853	NM_014014.4	1182	ccC/ccA	0	1	1	UPI0000207C53	0		ENST00000323853		ENSG00000144028	30859		43			HGNC	p.P1182P		SNRNP200		SNV			1				ENST00000323853	protein_coding			Pfam_domain:PF02889,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF55,SMART_domains:SM00611,SMART_domains:SM00973,Superfamily_domains:SSF158702		P		T		3624/7165				Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN			YES	SNRNP200,synonymous_variant,p.=,ENST00000323853,NM_014014.4;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,non_coding_transcript_exon_variant,,ENST00000480615,;SNRNP200,upstream_gene_variant,,ENST00000480242,;SNRNP200,upstream_gene_variant,,ENST00000497539,;SNRNP200,upstream_gene_variant,,ENST00000429650,;							LOW	3546/6411		U520_HUMAN			Transcript			.	ENSP00000317123		CCDS2020.1			1	
DST	0	LGGM	GRCh37	6	56485243	56485243	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	56	4	.	.	ENST00000244364.6:c.3318+4085C>A		*1106*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		60			HGNC	p.R1197S		DST		SNV			1				ENST00000370765	protein_coding							T		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Arg1197Ser,ENST00000370765,NM_001723.5;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000522360,;DST,downstream_gene_variant,,ENST00000518935,;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
SKP1	0	LGGM	GRCh37	5	133502903	133502903	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	4	.	.	ENST00000353411.6:c.129C>A	p.Asp43Glu	p.D43E	ENST00000353411	NM_170679.2	43	gaC/gaA	0	1	1	UPI00000002C9	0	getma.org/pdb.php?prot=SKP1_HUMAN&from=2&to=67&var=D43E	ENST00000353411		ENSG00000113558	10899		77	-0.775		HGNC	p.D77E		SKP1		SNV							ENST00000519718	protein_coding	getma.org/?cm=var&var=hg19,5,133502903,G,T&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF03931,PIRSF_domain:PIRSF028729,hmmpanther:PTHR11165,Low_complexity_(Seg):seg,SMART_domains:SM00512,Superfamily_domains:SSF54695		D/E		T	neutral	313/9467		getma.org/?cm=msa&ty=f&p=SKP1_HUMAN&rb=2&re=67&var=D43E	tolerated(0.6)	E7ERH2_HUMAN,E5RGM3_HUMAN			YES	SKP1,missense_variant,p.Asp43Glu,ENST00000353411,NM_170679.2;SKP1,missense_variant,p.Asp43Glu,ENST00000522552,NM_006930.3;SKP1,missense_variant,p.Asp43Glu,ENST00000521216,;SKP1,missense_variant,p.Asp43Glu,ENST00000517625,;SKP1,missense_variant,p.Asp43Glu,ENST00000522855,;SKP1,missense_variant,p.Asp43Glu,ENST00000519321,;SKP1,missense_variant,p.Asp43Glu,ENST00000520417,;SKP1,missense_variant,p.Asp43Glu,ENST00000328392,;CTD-2410N18.5,missense_variant,p.Asp77Glu,ENST00000519718,;SKP1,3_prime_UTR_variant,,ENST00000523966,;SKP1,3_prime_UTR_variant,,ENST00000519054,;							MODERATE	129/492	D43E	SKP1_HUMAN			Transcript		benign(0.008)	.	ENSP00000231487		CCDS4171.1			1	
LHX2	0	LGGM	GRCh37	9	126776428	126776428	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	4	.	.	ENST00000373615.4:c.309G>T	p.Lys103Asn	p.K103N	ENST00000373615	NM_004789.3	103	aaG/aaT	0	1	1	UPI000012E659	0	getma.org/pdb.php?prot=LHX2_HUMAN&from=53&to=110&var=K103N	ENST00000373615		ENSG00000106689	6594		19	3.06		HGNC	p.K103N		LHX2		SNV							ENST00000373615	protein_coding	getma.org/?cm=var&var=hg19,9,126776428,G,T&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24208:SF90,hmmpanther:PTHR24208,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716		K/N		T	medium	1048/2554		getma.org/?cm=msa&ty=f&p=LHX2_HUMAN&rb=53&re=110&var=K103N	deleterious(0.02)				YES	LHX2,missense_variant,p.Lys103Asn,ENST00000373615,NM_004789.3;LHX2,missense_variant,p.Lys101Asn,ENST00000446480,;LHX2,missense_variant,p.Lys73Asn,ENST00000560961,;LHX2,upstream_gene_variant,,ENST00000488674,;RP11-85O21.2,upstream_gene_variant,,ENST00000453529,;RP11-85O21.4,downstream_gene_variant,,ENST00000421041,;							MODERATE	309/1221	K103N	LHX2_HUMAN			Transcript		possibly_damaging(0.721)	.	ENSP00000362717		CCDS6853.1			1	
MPP6	0	LGGM	GRCh37	7	24708170	24708170	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000222644.5:c.1005C>A	p.Pro335=	p.P335=	ENST00000222644		335	ccC/ccA	0	1	1	UPI0000001C1B	0		ENST00000222644		ENSG00000105926	18167		43			HGNC	p.P335P		MPP6		SNV							ENST00000396475	protein_coding			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122		P		A		1255/8452				C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN			YES	MPP6,synonymous_variant,p.=,ENST00000222644,;MPP6,synonymous_variant,p.=,ENST00000396475,NM_016447.2;MPP6,synonymous_variant,p.=,ENST00000409761,;MPP6,downstream_gene_variant,,ENST00000430180,;MPP6,3_prime_UTR_variant,,ENST00000464384,;MPP6,downstream_gene_variant,,ENST00000472674,;							LOW	1005/1623		MPP6_HUMAN			Transcript			.	ENSP00000222644		CCDS5388.1			1	
UBE2O	0	LGGM	GRCh37	17	74398768	74398768	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000319380.7:c.601G>T	p.Gly201Trp	p.G201W	ENST00000319380	NM_022066.3	201	Ggg/Tgg	0	1	1	UPI000020032F	0	NA	ENST00000319380		ENSG00000175931	29554		43	1.975		HGNC	p.G201W		UBE2O		SNV							ENST00000319380	protein_coding	getma.org/?cm=var&var=hg19,17,74398768,C,A&fts=all				G/W		A	medium	666/5436		getma.org/?cm=msa&ty=f&p=UBE2O_HUMAN&rb=40&re=752&var=G201W	deleterious(0)				YES	UBE2O,missense_variant,p.Gly201Trp,ENST00000319380,NM_022066.3;UBE2O,upstream_gene_variant,,ENST00000587127,;UBE2O,upstream_gene_variant,,ENST00000590658,;UBE2O,upstream_gene_variant,,ENST00000587581,;UBE2O,non_coding_transcript_exon_variant,,ENST00000586409,;UBE2O,non_coding_transcript_exon_variant,,ENST00000586505,;							MODERATE	601/3879	G201W	UBE2O_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000323687		CCDS32742.1			1	
FAM199X	0	LGGM	GRCh37	X	103420403	103420403	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000493442.1:c.297C>A	p.Ser99=	p.S99=	ENST00000493442	NM_207318.3	99	tcC/tcA	0	1	1	UPI00001C2069	0		ENST00000493442		ENSG00000123575	25195		35			HGNC	p.S99S		FAM199X		SNV							ENST00000493442	protein_coding			hmmpanther:PTHR32003,hmmpanther:PTHR32003:SF1		S		A		463/7457				B0QYU2_HUMAN			YES	FAM199X,synonymous_variant,p.=,ENST00000493442,NM_207318.3;							LOW	297/1167		F199X_HUMAN			Transcript			.	ENSP00000417581		CCDS35364.1			1	
NR3C2	0	LGGM	GRCh37	4	149357025	149357025	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	4	.	.	ENST00000358102.3:c.988G>T	p.Val330Leu	p.V330L	ENST00000358102	NM_001166104.1	330	Gtg/Ttg	0	1		UPI000013DC6D	0	NA	ENST00000344721		ENSG00000151623	7979		16	0.805		HGNC	p.V330L		NR3C2		SNV			1				ENST00000358102	protein_coding	getma.org/?cm=var&var=hg19,4,149357025,C,A&fts=all		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF22		V/L		A	low	1163/5712		getma.org/?cm=msa&ty=f&p=MCR_HUMAN&rb=201&re=400&var=V330L	tolerated_low_confidence(0.05)	Q4W5E8_HUMAN,B0ZBF6_HUMAN				NR3C2,missense_variant,p.Val330Leu,ENST00000355292,;NR3C2,missense_variant,p.Val330Leu,ENST00000358102,NM_001166104.1,NM_000901.4;NR3C2,missense_variant,p.Val330Leu,ENST00000344721,;NR3C2,missense_variant,p.Val330Leu,ENST00000512865,;NR3C2,missense_variant,p.Val330Leu,ENST00000511528,;NR3C2,missense_variant,p.Val330Leu,ENST00000342437,;							MODERATE	988/2955	V330L				Transcript		benign(0.417)	.	ENSP00000341390		CCDS3772.1			1	
ADCY7	0	LGGM	GRCh37	16	50324385	50324385	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	4	.	.	ENST00000394697.2:c.189G>T	p.Gln63His	p.Q63H	ENST00000394697		63	caG/caT	0	1		UPI000004C5DB	0	NA	ENST00000254235		ENSG00000121281	238		18	0.69		HGNC	p.Q63H		ADCY7		SNV							ENST00000566433	protein_coding	getma.org/?cm=var&var=hg19,16,50324385,G,T&fts=all		hmmpanther:PTHR11920:SF273,hmmpanther:PTHR11920		Q/H		T	neutral	457/6130		getma.org/?cm=msa&ty=f&p=ADCY7_HUMAN&rb=1&re=71&var=Q63H	tolerated(0.56)	I3L3Q5_HUMAN				ADCY7,missense_variant,p.Gln63His,ENST00000394697,;ADCY7,missense_variant,p.Gln63His,ENST00000254235,NM_001114.3;ADCY7,missense_variant,p.Gln63His,ENST00000566433,NM_001286057.1;ADCY7,missense_variant,p.Gln63His,ENST00000538642,;ADCY7,missense_variant,p.Gln63His,ENST00000537579,;ADCY7,missense_variant,p.Gln94His,ENST00000566761,;ADCY7,missense_variant,p.Gln63His,ENST00000564965,;ADCY7,downstream_gene_variant,,ENST00000569265,;ADCY7,intron_variant,,ENST00000564044,;ADCY7,intron_variant,,ENST00000563677,;ADCY7,downstream_gene_variant,,ENST00000562623,;ADCY7,downstream_gene_variant,,ENST00000568933,;ADCY7,missense_variant,p.Gln63His,ENST00000567277,;							MODERATE	189/3243	Q63H	ADCY7_HUMAN			Transcript		benign(0.235)	.	ENSP00000254235		CCDS10741.1			1	
TNKS	0	LGGM	GRCh37	8	9473145	9473145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000310430.6:c.952G>T	p.Ala318Ser	p.A318S	ENST00000310430	NM_003747.2	318	Gcc/Tcc	0	1	1	UPI000013F00D	0	NA	ENST00000310430		ENSG00000173273	11941		26	1.525		HGNC	p.A81S		TNKS		SNV							ENST00000518281	protein_coding	getma.org/?cm=var&var=hg19,8,9473145,G,T&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24180:SF3,hmmpanther:PTHR24180,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		A/S		T	low	978/9620		getma.org/?cm=msa&ty=f&p=TNKS1_HUMAN&rb=314&re=368&var=A318S	tolerated(0.14)	Q59FX0_HUMAN,E7EQ52_HUMAN			YES	TNKS,missense_variant,p.Ala318Ser,ENST00000310430,NM_003747.2;TNKS,missense_variant,p.Ala81Ser,ENST00000518281,;TNKS,missense_variant,p.Ala318Ser,ENST00000520408,;TNKS,non_coding_transcript_exon_variant,,ENST00000518027,;							MODERATE	952/3984	A318S	TNKS1_HUMAN			Transcript		benign(0.015)	.	ENSP00000311579		CCDS5974.1			1	
PFKFB4	0	LGGM	GRCh37	3	48596972	48596972	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.				ENST00000232375	NM_004567.2			0	1	1	UPI0000000DCB	0		ENST00000232375		ENSG00000114268	8875		50		2649	HGNC	p.H23N		PFKFB4		SNV							ENST00000422701	protein_coding							T		-/3586				Q64EX5_HUMAN,Q5XLC3_HUMAN,C9JX77_HUMAN			YES	PFKFB4,missense_variant,p.His23Asn,ENST00000422701,;PFKFB4,intron_variant,,ENST00000536104,;PFKFB4,intron_variant,,ENST00000452531,;COL7A1,downstream_gene_variant,,ENST00000328333,NM_000094.3;COL7A1,downstream_gene_variant,,ENST00000454817,;PFKFB4,upstream_gene_variant,,ENST00000232375,NM_004567.2;PFKFB4,upstream_gene_variant,,ENST00000541519,;PFKFB4,upstream_gene_variant,,ENST00000416568,;PFKFB4,upstream_gene_variant,,ENST00000383734,;UCN2,downstream_gene_variant,,ENST00000273610,NM_033199.3;PFKFB4,upstream_gene_variant,,ENST00000545984,;PFKFB4,upstream_gene_variant,,ENST00000412035,;PFKFB4,intron_variant,,ENST00000496767,;PFKFB4,intron_variant,,ENST00000467176,;PFKFB4,upstream_gene_variant,,ENST00000490115,;COL7A1,downstream_gene_variant,,ENST00000470076,;COL7A1,downstream_gene_variant,,ENST00000487017,;PFKFB4,upstream_gene_variant,,ENST00000417753,;PFKFB4,upstream_gene_variant,,ENST00000445633,;COL7A1,downstream_gene_variant,,ENST00000466591,;COL7A1,downstream_gene_variant,,ENST00000465238,;							MODIFIER	-/1410		F264_HUMAN			Transcript			.	ENSP00000232375		CCDS2771.1			1	
DNAH9	0	LGGM	GRCh37	17	11671910	11671910	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	4	.	.	ENST00000262442.4:c.7311C>A	p.Pro2437=	p.P2437=	ENST00000262442	NM_001372.3	2437	ccC/ccA	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		20			HGNC	p.P2437P		DNAH9		SNV							ENST00000262442	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676		P		A		7379/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;							LOW	7311/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
CCDC63	0	LGGM	GRCh37	12	111336830	111336830	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	4	.	.	ENST00000308208.5:c.1243G>T	p.Glu415Ter	p.E415*	ENST00000308208	NM_152591.1	415	Gag/Tag	0	1	1	UPI000006F794	0	NA	ENST00000308208		ENSG00000173093	26669		15	0		HGNC	p.E415X		CCDC63		SNV							ENST00000308208	protein_coding	getma.org/?cm=var&var=hg19,12,111336830,G,T&fts=all		hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF20		E/*		T	NA	1485/1993		NA		G3V217_HUMAN,B4DY03_HUMAN			YES	CCDC63,stop_gained,p.Glu415Ter,ENST00000308208,NM_152591.1;CCDC63,stop_gained,p.Glu375Ter,ENST00000545036,NM_001286243.1;CCDC63,stop_gained,p.Glu336Ter,ENST00000552694,NM_001286244.1;							HIGH	1243/1692	E415*	CCD63_HUMAN			Transcript			.	ENSP00000312399		CCDS9151.1			1	
SLC4A10	0	LGGM	GRCh37	2	162730431	162730431	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000446997.1:c.864G>T	p.Leu288=	p.L288=	ENST00000446997	NM_001178015.1	288	ctG/ctT	0	1	1	UPI00001D4707	0		ENST00000446997		ENSG00000144290	13811		41			HGNC	p.L288L		SLC4A10		SNV							ENST00000421911	protein_coding			hmmpanther:PTHR11453:SF32,hmmpanther:PTHR11453,Pfam_domain:PF07565,TIGRFAM_domain:TIGR00834		L		T		957/5551							YES	SLC4A10,synonymous_variant,p.=,ENST00000446997,NM_001178015.1;SLC4A10,synonymous_variant,p.=,ENST00000421911,;SLC4A10,synonymous_variant,p.=,ENST00000535165,;SLC4A10,intron_variant,,ENST00000375514,NM_001178016.1;SLC4A10,intron_variant,,ENST00000415876,NM_022058.3;SLC4A10,intron_variant,,ENST00000272716,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000493021,;SLC4A10,non_coding_transcript_exon_variant,,ENST00000461456,;SLC4A10,intron_variant,,ENST00000446228,;							LOW	864/3357		S4A10_HUMAN			Transcript			.	ENSP00000393066		CCDS54411.1			1	
PHYHD1	0	LGGM	GRCh37	9	131702770	131702770	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	4	.	.	ENST00000308941.5:c.558C>A	p.Pro186=	p.P186=	ENST00000308941	NM_174933.3	186	ccC/ccA	0	1		UPI00001408AE	0		ENST00000372592		ENSG00000175287	23396		23			HGNC	p.H173N		PHYHD1		SNV							ENST00000353176	protein_coding			hmmpanther:PTHR20883,Pfam_domain:PF05721,Gene3D:2.60.120.620,Superfamily_domains:SSF51197		H/N		A		1513/2133			deleterious(0)					PHYHD1,missense_variant,p.His194Asn,ENST00000372592,NM_001100876.1;PHYHD1,missense_variant,p.His173Asn,ENST00000353176,;PHYHD1,missense_variant,p.His173Asn,ENST00000421063,NM_001100877.1;PHYHD1,synonymous_variant,p.=,ENST00000308941,NM_174933.3;PHYHD1,synonymous_variant,p.=,ENST00000442837,;PHYHD1,synonymous_variant,p.=,ENST00000419872,;PHYHD1,downstream_gene_variant,,ENST00000426694,;RP11-101E3.5,upstream_gene_variant,,ENST00000482796,;PHYHD1,non_coding_transcript_exon_variant,,ENST00000487504,;PHYHD1,3_prime_UTR_variant,,ENST00000412476,;PHYHD1,3_prime_UTR_variant,,ENST00000424503,;PHYHD1,downstream_gene_variant,,ENST00000451000,;							MODERATE	580/876		PHYD1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000361673		CCDS43885.1			1	
SYCE2	0	LGGM	GRCh37	19	13030060	13030060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	4	.	.	ENST00000293695.7:c.12G>T	p.Gln4His	p.Q4H	ENST00000293695	NM_001105578.1	4	caG/caT	0	1	1	UPI00000389A2	0	NA	ENST00000293695		ENSG00000161860	27411		29	-0.69		HGNC	p.Q4H		SYCE2		SNV							ENST00000293695	protein_coding	getma.org/?cm=var&var=hg19,19,13030060,C,A&fts=all				Q/H		A	neutral	31/1231		getma.org/?cm=msa&ty=f&p=SYCE2_HUMAN&rb=1&re=169&var=Q4H	tolerated_low_confidence(0.15)				YES	SYCE2,missense_variant,p.Gln4His,ENST00000293695,NM_001105578.1;FARSA,downstream_gene_variant,,ENST00000588025,;FARSA,downstream_gene_variant,,ENST00000314606,NM_004461.2;FARSA,downstream_gene_variant,,ENST00000423140,;FARSA,downstream_gene_variant,,ENST00000593021,;FARSA,downstream_gene_variant,,ENST00000587488,;MIR5695,upstream_gene_variant,,ENST00000579717,;FARSA,downstream_gene_variant,,ENST00000588965,;FARSA,downstream_gene_variant,,ENST00000586146,;							MODERATE	12/657	Q4H	SYCE2_HUMAN			Transcript		benign(0.005)	.	ENSP00000293695		CCDS42509.1			1	
TRABD	0	LGGM	GRCh37	22	50635922	50635922	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000303434.4:c.576C>A	p.Pro192=	p.P192=	ENST00000303434	NM_025204.2	192	ccC/ccA	0	1	1	UPI0000049DAE	0		ENST00000303434		ENSG00000170638	28805		41			HGNC	p.P192P		TRABD		SNV							ENST00000395829	protein_coding			Pfam_domain:PF01963,hmmpanther:PTHR21530,hmmpanther:PTHR21530:SF0		P		A		695/2329							YES	TRABD,synonymous_variant,p.=,ENST00000303434,NM_025204.2;TRABD,synonymous_variant,p.=,ENST00000380909,;TRABD,synonymous_variant,p.=,ENST00000395827,;TRABD,synonymous_variant,p.=,ENST00000395829,;SELO,upstream_gene_variant,,ENST00000380903,NM_031454.1;RP3-402G11.26,downstream_gene_variant,,ENST00000608025,;TRABD,non_coding_transcript_exon_variant,,ENST00000463233,;TRABD,non_coding_transcript_exon_variant,,ENST00000472677,;							LOW	576/1131		TRABD_HUMAN			Transcript			.	ENSP00000305664		CCDS14086.1			1	
LRRN2	0	LGGM	GRCh37	1	204588306	204588306	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000367175.1:c.815C>A	p.Pro272Gln	p.P272Q	ENST00000367175		272	cCg/cAg	0	1	1	UPI000013E8AC	0	getma.org/pdb.php?prot=LRRN2_HUMAN&from=213&to=273&var=P272Q	ENST00000367175		ENSG00000170382	16914		37	0.72		HGNC	p.P272Q		LRRN2		SNV							ENST00000367176	protein_coding	getma.org/?cm=var&var=hg19,1,204588306,G,T&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF9,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		P/Q		T	neutral	3028/5036		getma.org/?cm=msa&ty=f&p=LRRN2_HUMAN&rb=213&re=273&var=P272Q	deleterious(0)	B3KM66_HUMAN			YES	LRRN2,missense_variant,p.Pro272Gln,ENST00000367175,;LRRN2,missense_variant,p.Pro272Gln,ENST00000367177,NM_201630.1;LRRN2,missense_variant,p.Pro272Gln,ENST00000367176,NM_006338.2;RP11-430C7.4,downstream_gene_variant,,ENST00000453895,;LRRN2,downstream_gene_variant,,ENST00000496057,;							MODERATE	815/2142	P272Q	LRRN2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000356143		CCDS1448.1			1	
IGFBP7	0	LGGM	GRCh37	4	57899425	57899425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	4	.	.	ENST00000295666.4:c.638G>T	p.Arg213Leu	p.R213L	ENST00000295666	NM_001553.2	213	cGg/cTg	0	1	1	UPI00000422D2	0	getma.org/pdb.php?prot=IBP7_HUMAN&from=160&to=265&var=R213L	ENST00000295666		ENSG00000163453	5476		20	2.72		HGNC	p.R213L		IGFBP7		SNV			1				ENST00000537922	protein_coding	getma.org/?cm=var&var=hg19,4,57899425,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF018239,SMART_domains:SM00409		R/L		A	medium	672/1427		getma.org/?cm=msa&ty=f&p=IBP7_HUMAN&rb=160&re=265&var=R213L	deleterious(0.01)				YES	IGFBP7,missense_variant,p.Arg213Leu,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Arg213Leu,ENST00000537922,NM_001253835.1;POLR2B,downstream_gene_variant,,ENST00000381227,;POLR2B,downstream_gene_variant,,ENST00000441246,;POLR2B,downstream_gene_variant,,ENST00000314595,NM_000938.1;POLR2B,downstream_gene_variant,,ENST00000431623,;IGFBP7,non_coding_transcript_exon_variant,,ENST00000512512,;IGFBP7,non_coding_transcript_exon_variant,,ENST00000514062,;POLR2B,downstream_gene_variant,,ENST00000478188,;							MODERATE	638/849	R213L	IBP7_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000295666		CCDS3512.1			1	
OTOP1	0	LGGM	GRCh37	4	4199793	4199793	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	4	.	.	ENST00000296358.4:c.768C>A	p.Pro256=	p.P256=	ENST00000296358	NM_177998.1	256	ccC/ccA	0	1	1	UPI0000186945	0		ENST00000296358		ENSG00000163982	19656		16			HGNC	p.P256P		OTOP1		SNV							ENST00000296358	protein_coding			hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19		P		T		793/1864							YES	OTOP1,synonymous_variant,p.=,ENST00000296358,NM_177998.1;							LOW	768/1839		OTOP1_HUMAN			Transcript			.	ENSP00000296358		CCDS3372.1			1	
UNC5D	0	LGGM	GRCh37	8	35606075	35606075	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000404895.2:c.1797G>T	p.Leu599=	p.L599=	ENST00000404895	NM_080872.2	599	ctG/ctT	0	1	1	UPI00001D6915	0		ENST00000404895		ENSG00000156687	18634		50			HGNC	p.L532L		UNC5D		SNV							ENST00000420357	protein_coding			Pfam_domain:PF00791,PROSITE_profiles:PS51145,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5,SMART_domains:SM00218		L		T		2125/3252							YES	UNC5D,synonymous_variant,p.=,ENST00000287272,;UNC5D,synonymous_variant,p.=,ENST00000453357,;UNC5D,synonymous_variant,p.=,ENST00000416672,;UNC5D,synonymous_variant,p.=,ENST00000404895,NM_080872.2;UNC5D,synonymous_variant,p.=,ENST00000420357,;UNC5D,synonymous_variant,p.=,ENST00000449677,;							LOW	1797/2862		UNC5D_HUMAN			Transcript			.	ENSP00000385143		CCDS6093.2			1	
SF3B3	0	LGGM	GRCh37	16	70605687	70605687	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000302516.5:c.3625G>T	p.Glu1209Ter	p.E1209*	ENST00000302516	NM_012426.4	1209	Gag/Tag	0	1	1	UPI0000167878	0	NA	ENST00000302516		ENSG00000189091	10770		40	0		HGNC	p.E1209X		SF3B3		SNV							ENST00000302516	protein_coding	getma.org/?cm=var&var=hg19,16,70605687,G,T&fts=all		hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1		E/*		T	NA	3836/6969		NA		J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN			YES	SF3B3,stop_gained,p.Glu1209Ter,ENST00000302516,NM_012426.4;RP11-49C24.1,upstream_gene_variant,,ENST00000562874,;SF3B3,non_coding_transcript_exon_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000563739,;							HIGH	3625/3654	E1209*	SF3B3_HUMAN			Transcript			.	ENSP00000305790		CCDS10894.1			1	
OLFM4	0	LGGM	GRCh37	13	53624121	53624121	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	4	.	.	ENST00000219022.2:c.748G>T	p.Gly250Cys	p.G250C	ENST00000219022	NM_006418.4	250	Ggt/Tgt	0	1	1	UPI00000359F0	0	NA	ENST00000219022		ENSG00000102837	17190		48	2.81		HGNC	p.G250C		OLFM4		SNV							ENST00000219022	protein_coding	getma.org/?cm=var&var=hg19,13,53624121,G,T&fts=all		PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF7,SMART_domains:SM00284		G/C		T	medium	826/2897		getma.org/?cm=msa&ty=f&p=OLFM4_HUMAN&rb=250&re=507&var=G250C	deleterious(0)				YES	OLFM4,missense_variant,p.Gly250Cys,ENST00000219022,NM_006418.4;							MODERATE	748/1533	G250C	OLFM4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219022		CCDS9440.1			1	
ZNF304	0	LGGM	GRCh37	19	57867559	57867559	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	4	.	.	ENST00000391705.3:c.322C>A	p.Gln108Lys	p.Q108K	ENST00000391705	NM_020657.2	108	Cag/Aag	0	1		UPI000013CAB8	0	NA	ENST00000282286		ENSG00000131845	13505		29	2		HGNC	p.Q155K		ZNF304		SNV							ENST00000443917	protein_coding	getma.org/?cm=var&var=hg19,19,57867559,C,A&fts=all		PROSITE_patterns:PS00028,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/K		A	medium	495/4202		getma.org/?cm=msa&ty=f&p=ZN304_HUMAN&rb=55&re=119&var=Q108K	deleterious(0.04)	M0QZ59_HUMAN				ZNF304,missense_variant,p.Gln108Lys,ENST00000391705,NM_020657.2;ZNF304,missense_variant,p.Gln108Lys,ENST00000282286,;ZNF304,missense_variant,p.Gln155Lys,ENST00000443917,;ZNF304,missense_variant,p.Gln66Lys,ENST00000598744,;CTC-444N24.13,upstream_gene_variant,,ENST00000597973,;							MODERATE	322/1980	Q108K	ZN304_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000282286		CCDS12950.1			1	
WTAP	0	LGGM	GRCh37	6	160169268	160169268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000358372.4:c.319C>A	p.Gln107Lys	p.Q107K	ENST00000358372	NM_004906.4	107	Caa/Aaa	0	1	1	UPI0000070280	0	NA	ENST00000358372		ENSG00000146457	16846		40	1.905		HGNC	p.Q107K		WTAP		SNV							ENST00000358372	protein_coding	getma.org/?cm=var&var=hg19,6,160169268,C,A&fts=all		hmmpanther:PTHR15217,hmmpanther:PTHR15217:SF0		Q/K		A	medium	2076/3656		getma.org/?cm=msa&ty=f&p=FL2D_HUMAN&rb=1&re=111&var=Q107K	deleterious(0.03)	Q6AHX7_HUMAN			YES	WTAP,missense_variant,p.Gln107Lys,ENST00000358372,NM_004906.4,NM_001270531.1;WTAP,missense_variant,p.Gln107Lys,ENST00000337387,NM_001270533.1,NM_152857.2,NM_152858.2;SOD2,intron_variant,,ENST00000546087,;SOD2,upstream_gene_variant,,ENST00000537657,;WTAP,downstream_gene_variant,,ENST00000462110,;							MODERATE	319/1191	Q107K	FL2D_HUMAN			Transcript		possibly_damaging(0.57)	.	ENSP00000351141		CCDS5266.1			1	
PLCZ1	0	LGGM	GRCh37	12	18890353	18890353	+	5_prime_UTR_variant	5'UTR	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000266505.7:c.-48G>T		*16*	ENST00000266505				0	1	1	UPI000000D7E3	0		ENST00000266505		ENSG00000139151	19218		32			HGNC	p.G6V		PLCZ1		SNV							ENST00000539072	protein_coding							A		217/2148				F5H828_HUMAN,F5H474_HUMAN,F5H3L4_HUMAN,F5H2Y6_HUMAN,F5GZK3_HUMAN			YES	PLCZ1,missense_variant,p.Gly6Val,ENST00000539072,;PLCZ1,5_prime_UTR_variant,,ENST00000447925,NM_033123.3;PLCZ1,5_prime_UTR_variant,,ENST00000266505,;PLCZ1,5_prime_UTR_variant,,ENST00000435379,;PLCZ1,5_prime_UTR_variant,,ENST00000539875,;PLCZ1,5_prime_UTR_variant,,ENST00000543242,;PLCZ1,5_prime_UTR_variant,,ENST00000541966,;CAPZA3,upstream_gene_variant,,ENST00000317658,NM_033328.2;RP11-361I14.2,intron_variant,,ENST00000536931,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000545129,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000541109,;PLCZ1,5_prime_UTR_variant,,ENST00000318197,;PLCZ1,5_prime_UTR_variant,,ENST00000539207,;PLCZ1,5_prime_UTR_variant,,ENST00000535429,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000544849,;							MODIFIER	-/1827		PLCZ1_HUMAN			Transcript			.	ENSP00000266505		CCDS8680.1			1	
PPP1R3C	0	LGGM	GRCh37	10	93389803	93389803	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000238994.5:c.835C>A	p.Gln279Lys	p.Q279K	ENST00000238994	NM_005398.5	279	Cag/Aag	0	1	1	UPI000006EFF1	0	NA	ENST00000238994		ENSG00000119938	9293		41	0.84		HGNC	p.Q279K	rs771562641	PPP1R3C		SNV							ENST00000238994	protein_coding	getma.org/?cm=var&var=hg19,10,93389803,G,T&fts=all		hmmpanther:PTHR12307:SF4,hmmpanther:PTHR12307,PIRSF_domain:PIRSF500813,PIRSF_domain:PIRSF038207		Q/K		T	low	920/2524	1.50E-05	getma.org/?cm=msa&ty=f&p=PPR3C_HUMAN&rb=258&re=317&var=Q279K	tolerated(0.95)	B4DRR5_HUMAN			YES	PPP1R3C,missense_variant,p.Gln279Lys,ENST00000238994,NM_005398.5;							MODERATE	835/954	Q279K	PPR3C_HUMAN			Transcript		benign(0.001)	.	ENSP00000238994	8.24E-06	CCDS7416.1			1	
SERPINA12	0	LGGM	GRCh37	14	94964332	94964332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000341228.2:c.403G>T	p.Gly135Trp	p.G135W	ENST00000341228	NM_173850.2	135	Ggg/Tgg	0	1	1	UPI000000D86C	0	getma.org/pdb.php?prot=SPA12_HUMAN&from=50&to=411&var=G135W	ENST00000341228		ENSG00000165953	18359		47	3.595		HGNC	p.G135W		SERPINA12		SNV							ENST00000556881	protein_coding	getma.org/?cm=var&var=hg19,14,94964332,C,A&fts=all		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF149,SMART_domains:SM00093,Superfamily_domains:SSF56574		G/W		A	high	1199/2061		getma.org/?cm=msa&ty=f&p=SPA12_HUMAN&rb=50&re=411&var=G135W	deleterious(0)				YES	SERPINA12,missense_variant,p.Gly135Trp,ENST00000341228,NM_173850.2;SERPINA12,missense_variant,p.Gly135Trp,ENST00000556881,;							MODERATE	403/1245	G135W	SPA12_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000342109		CCDS9926.1			1	
FHL2	0	LGGM	GRCh37	2	105977860	105977860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000358129.4:c.720G>T	p.Glu240Asp	p.E240D	ENST00000358129	NM_201555.1	240	gaG/gaT	0	1		UPI0000140D45	0	getma.org/pdb.php?prot=FHL2_HUMAN&from=221&to=278&var=E240D	ENST00000322142		ENSG00000115641	3703		41	1.95		HGNC	p.E240D		FHL2		SNV			1				ENST00000408995	protein_coding	getma.org/?cm=var&var=hg19,2,105977860,C,A&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF3,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716		E/D		A	medium	887/1462		getma.org/?cm=msa&ty=f&p=FHL2_HUMAN&rb=221&re=278&var=E240D	deleterious(0.04)	Q6I9R8_HUMAN,Q53T40_HUMAN,Q53QP3_HUMAN,C9J3S8_HUMAN				FHL2,missense_variant,p.Glu356Asp,ENST00000409177,;FHL2,missense_variant,p.Glu240Asp,ENST00000358129,NM_201555.1;FHL2,missense_variant,p.Glu350Asp,ENST00000344213,;FHL2,missense_variant,p.Glu240Asp,ENST00000409807,;FHL2,missense_variant,p.Glu240Asp,ENST00000393353,NM_001450.3;FHL2,missense_variant,p.Glu240Asp,ENST00000322142,NM_001039492.2;FHL2,missense_variant,p.Glu240Asp,ENST00000393352,NM_201557.3;FHL2,missense_variant,p.Glu240Asp,ENST00000408995,;FHL2,3_prime_UTR_variant,,ENST00000336660,;AC012360.6,upstream_gene_variant,,ENST00000457290,;FHL2,3_prime_UTR_variant,,ENST00000530340,;FHL2,downstream_gene_variant,,ENST00000452732,;							MODERATE	720/840	E240D	FHL2_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000322909		CCDS2070.1			1	
BSN	0	LGGM	GRCh37	3	49694854	49694854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	4	.	.	ENST00000296452.4:c.7865G>T	p.Trp2622Leu	p.W2622L	ENST00000296452	NM_003458.3	2622	tGg/tTg	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		15	2.165		HGNC	p.W2622L		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49694854,G,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		W/L		T	medium	7979/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=2363&re=3924&var=W2622L					YES	BSN,missense_variant,p.Trp2622Leu,ENST00000296452,NM_003458.3;							MODERATE	7865/11781	W2622L	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
SHANK2	0	LGGM	GRCh37	11	70333435	70333435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000338508.4:c.2966C>A	p.Pro989Gln	p.P989Q	ENST00000338508		989	cCa/cAa	0	1		UPI000198F7E4	0	NA	ENST00000423696		ENSG00000162105	14295		34	2.51		HGNC	p.P609Q		SHANK2		SNV			1				ENST00000423696	protein_coding	getma.org/?cm=var&var=hg19,11,70333435,G,T&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		P/Q		T	medium	1863/7884		getma.org/?cm=msa&ty=f&p=SHAN2_HUMAN&rb=448&re=1283&var=P609Q	deleterious(0)					SHANK2,missense_variant,p.Pro989Gln,ENST00000338508,;SHANK2,missense_variant,p.Pro393Gln,ENST00000449833,NM_133266.3;SHANK2,missense_variant,p.Pro609Gln,ENST00000423696,;SHANK2,missense_variant,p.Pro392Gln,ENST00000409161,;SHANK2,missense_variant,p.Pro267Gln,ENST00000424924,;SHANK2,missense_variant,p.Pro612Gln,ENST00000294018,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000449116,;SHANK2,downstream_gene_variant,,ENST00000357171,;							MODERATE	1826/4413	P609Q	SHAN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000394536					1	
APOLD1	0	LGGM	GRCh37	12	12940305	12940305	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000326765.6:c.559G>T	p.Gly187Trp	p.G187W	ENST00000326765	NM_001130415.1	187	Ggg/Tgg	0	1	1	UPI0000D4A841	0	NA	ENST00000326765		ENSG00000178878	25268		43	0.695		HGNC	p.G187W		APOLD1		SNV							ENST00000326765	protein_coding	getma.org/?cm=var&var=hg19,12,12940305,G,T&fts=all		hmmpanther:PTHR14096:SF1,hmmpanther:PTHR14096		G/W		T	neutral	629/4640		getma.org/?cm=msa&ty=f&p=APLD1_HUMAN&rb=154&re=224&var=G187W	deleterious(0)				YES	APOLD1,missense_variant,p.Gly156Trp,ENST00000356591,NM_030817.2;APOLD1,missense_variant,p.Gly187Trp,ENST00000326765,NM_001130415.1;APOLD1,intron_variant,,ENST00000534843,;APOLD1,intron_variant,,ENST00000540583,;APOLD1,intron_variant,,ENST00000588943,;							MODERATE	559/840	G187W	APLD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324277		CCDS44833.1			1	
HID1	0	LGGM	GRCh37	17	72955981	72955981	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	4	.	.	ENST00000425042.2:c.1003G>T	p.Glu335Ter	p.E335*	ENST00000425042	NM_030630.2	335	Gag/Tag	0	1	1	UPI00000746AC	0	NA	ENST00000425042		ENSG00000167861	15736		49	0		HGNC	p.E227X		HID1		SNV							ENST00000530857	protein_coding	getma.org/?cm=var&var=hg19,17,72955981,C,A&fts=all		Pfam_domain:PF12722,hmmpanther:PTHR21575,hmmpanther:PTHR21575:SF12		E/*		A	NA	1081/3271		NA		Q8NC03_HUMAN,B4E226_HUMAN			YES	HID1,stop_gained,p.Glu335Ter,ENST00000425042,NM_030630.2;HID1,stop_gained,p.Glu227Ter,ENST00000530857,;HID1,stop_gained,p.Glu42Ter,ENST00000318565,;HID1,downstream_gene_variant,,ENST00000581676,;HID1,downstream_gene_variant,,ENST00000532900,;HID1,downstream_gene_variant,,ENST00000579818,;HID1,downstream_gene_variant,,ENST00000530904,;HID1,upstream_gene_variant,,ENST00000578002,;HID1,3_prime_UTR_variant,,ENST00000534480,;HID1,non_coding_transcript_exon_variant,,ENST00000532894,;HID1,downstream_gene_variant,,ENST00000528902,;HID1,upstream_gene_variant,,ENST00000532395,;HID1,downstream_gene_variant,,ENST00000525128,;HID1,upstream_gene_variant,,ENST00000583244,;							HIGH	1003/2367	E335*	HID1_HUMAN			Transcript			.	ENSP00000413520		CCDS32726.1			1	
CRYBA4	0	LGGM	GRCh37	22	27021447	27021447	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	4	.	.	ENST00000354760.3:c.161G>T	p.Trp54Leu	p.W54L	ENST00000354760	NM_001886.2	54	tGg/tTg	0	1	1	UPI0000167B21	0	getma.org/pdb.php?prot=CRBA4_HUMAN&from=13&to=97&var=W54L	ENST00000354760		ENSG00000196431	2396		32	4.395		HGNC	p.W54L		CRYBA4		SNV			1				ENST00000354760	protein_coding	getma.org/?cm=var&var=hg19,22,27021447,G,T&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF19,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367		W/L		T	high	196/811		getma.org/?cm=msa&ty=f&p=CRBA4_HUMAN&rb=13&re=97&var=W54L	deleterious(0.02)				YES	CRYBA4,missense_variant,p.Trp54Leu,ENST00000354760,NM_001886.2;CRYBA4,splice_region_variant,,ENST00000466315,;							MODERATE	161/591	W54L	CRBA4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346805		CCDS13841.1			1	
TNC	0	LGGM	GRCh37	9	117792649	117792649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000350763.4:c.5956C>A	p.Gln1986Lys	p.Q1986K	ENST00000350763	NM_002160.3	1986	Caa/Aaa	0	1	1	UPI000013D5BD	0	getma.org/pdb.php?prot=TENA_HUMAN&from=1980&to=2189&var=Q1986K	ENST00000350763		ENSG00000041982	5318		38	2.16		HGNC	p.Q1622K		TNC		SNV			1				ENST00000340094	protein_coding	getma.org/?cm=var&var=hg19,9,117792649,G,T&fts=all		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,SMART_domains:SM00186,Superfamily_domains:SSF56496		Q/K		T	medium	6368/7641		getma.org/?cm=msa&ty=f&p=TENA_HUMAN&rb=1980&re=2189&var=Q1986K	deleterious(0)	F5H5D6_HUMAN			YES	TNC,missense_variant,p.Gln1986Lys,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Gln1804Lys,ENST00000341037,;TNC,missense_variant,p.Gln1622Lys,ENST00000340094,;TNC,missense_variant,p.Gln1713Lys,ENST00000423613,;TNC,missense_variant,p.Gln1531Lys,ENST00000535648,;TNC,missense_variant,p.Gln1440Lys,ENST00000346706,;TNC,missense_variant,p.Gln1349Lys,ENST00000345230,;TNC,missense_variant,p.Gln1623Lys,ENST00000542877,;TNC,missense_variant,p.Gln1349Lys,ENST00000537320,;TNC,missense_variant,p.Gln549Lys,ENST00000544972,;TNC,non_coding_transcript_exon_variant,,ENST00000460345,;							MODERATE	5956/6606	Q1986K	TENA_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000265131		CCDS6811.1			1	
HYCC2	0	LGGM	GRCh37	2	201886804	201886804	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000418596.3:c.153+750G>T		*51*	ENST00000418596	NM_173822.3			0	1	1	UPI0000074347	0		ENST00000418596		ENSG00000155744	28593		45			HGNC	p.G63X		FAM126B		SNV							ENST00000446678	protein_coding							A		-/9333				C9JTA1_HUMAN,C9JNS4_HUMAN,B3KW57_HUMAN			YES	FAM126B,stop_gained,p.Gly63Ter,ENST00000446678,;FAM126B,intron_variant,,ENST00000418596,NM_173822.3;FAM126B,intron_variant,,ENST00000452799,;FAM126B,intron_variant,,ENST00000453765,;FAM126B,non_coding_transcript_exon_variant,,ENST00000485144,;FAM126B,stop_gained,p.Gly63Ter,ENST00000286181,;FAM126B,intron_variant,,ENST00000498780,;FAM126B,downstream_gene_variant,,ENST00000474118,;FAM126B,downstream_gene_variant,,ENST00000485636,;FAM126B,downstream_gene_variant,,ENST00000494881,;							MODIFIER	-/1593		F126B_HUMAN			Transcript			.	ENSP00000393667		CCDS2335.1			1	
PXDNL	0	LGGM	GRCh37	8	52284622	52284622	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	4	.	.	ENST00000356297.4:c.3712G>T	p.Gly1238Ter	p.G1238*	ENST00000356297	NM_144651.4	1238	Gga/Tga	0	1	1	UPI0001AE6ED6	0	NA	ENST00000356297		ENSG00000147485	26359		21	0		HGNC	p.G1238X		PXDNL		SNV							ENST00000543296	protein_coding	getma.org/?cm=var&var=hg19,8,52284622,C,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		G/*		A	NA	3813/4805		NA					YES	PXDNL,stop_gained,p.Gly1238Ter,ENST00000356297,NM_144651.4;PXDNL,stop_gained,p.Gly1238Ter,ENST00000543296,;PXDNL,stop_gained,p.Gly312Ter,ENST00000522933,;PXDNL,stop_gained,p.Gly504Ter,ENST00000522628,;							HIGH	3712/4392	G1238*	PXDNL_HUMAN			Transcript			.	ENSP00000348645		CCDS47855.1			1	
ZSWIM3	0	LGGM	GRCh37	20	44506037	44506037	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000255152.2:c.840G>T	p.Lys280Asn	p.K280N	ENST00000255152	NM_080752.3	280	aaG/aaT	0	1	1	UPI00000736E4	0	NA	ENST00000255152		ENSG00000132801	16157		36	1.39		HGNC	p.K280N		ZSWIM3		SNV							ENST00000255152	protein_coding	getma.org/?cm=var&var=hg19,20,44506037,G,T&fts=all		hmmpanther:PTHR31569:SF3,hmmpanther:PTHR31569,Pfam_domain:PF10551		K/N		T	low	1049/2773		getma.org/?cm=msa&ty=f&p=ZSWM3_HUMAN&rb=222&re=315&var=K280N	tolerated(0.1)				YES	ZSWIM3,missense_variant,p.Lys280Asn,ENST00000255152,NM_080752.3;ZSWIM3,missense_variant,p.Lys274Asn,ENST00000454862,;ZSWIM1,upstream_gene_variant,,ENST00000372523,NM_080603.4;ZSWIM1,upstream_gene_variant,,ENST00000372520,;							MODERATE	840/2091	K280N	ZSWM3_HUMAN			Transcript		possibly_damaging(0.727)	.	ENSP00000255152		CCDS13381.1			1	
HIST1H2BN	0	LGGM	GRCh37	6	27806755	27806755	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000396980.3:c.316G>T	p.Glu106Ter	p.E106*	ENST00000396980	NM_003520.3	106	Gag/Tag	0	1	1	UPI0000000CA1	0	NA	ENST00000396980		ENSG00000233822	4749		45	0		HGNC	p.E106X		HIST1H2BN		SNV							ENST00000449538	protein_coding	getma.org/?cm=var&var=hg19,6,27806755,G,T&fts=all		hmmpanther:PTHR23428,PROSITE_patterns:PS00357,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621		E/*		T	NA	316/449		NA					YES	HIST1H2BN,stop_gained,p.Glu106Ter,ENST00000606613,;HIST1H2BN,stop_gained,p.Glu106Ter,ENST00000396980,NM_003520.3;HIST1H2AK,upstream_gene_variant,,ENST00000330180,NM_003510.2;HIST1H2BN,stop_gained,p.Glu106Ter,ENST00000449538,;							HIGH	316/381	E106*	H2B1N_HUMAN			Transcript			.	ENSP00000380177		CCDS4633.1			1	
PCDHB4	0	LGGM	GRCh37	5	140503707	140503707	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000194152.1:c.2127G>T	p.Ala709=	p.A709=	ENST00000194152	NM_018938.2	709	gcG/gcT	0	1	1	UPI00001273DF	0		ENST00000194152		ENSG00000081818	8689		45			HGNC	p.A709A	rs782332407	PCDHB4		SNV							ENST00000194152	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A		T		2127/3621	1.56E-05						YES	PCDHB4,synonymous_variant,p.=,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;							LOW	2127/2388		PCDB4_HUMAN			Transcript			.	ENSP00000194152	8.29E-06	CCDS4246.1			1	
TIAM2	0	LGGM	GRCh37	6	155504487	155504487	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	4	.	.	ENST00000461783.3:c.2917C>A	p.Arg973=	p.R973=	ENST00000461783		973	Cgg/Agg	0	1		UPI00004DF8BE	0		ENST00000318981		ENSG00000146426	11806		55			HGNC	p.R973R		TIAM2		SNV							ENST00000318981	protein_coding			Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118,PROSITE_profiles:PS50106		R		A		3125/5916				F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,synonymous_variant,p.=,ENST00000461783,;TIAM2,synonymous_variant,p.=,ENST00000456144,;TIAM2,synonymous_variant,p.=,ENST00000367174,;TIAM2,synonymous_variant,p.=,ENST00000318981,NM_012454.3;TIAM2,synonymous_variant,p.=,ENST00000360366,;TIAM2,synonymous_variant,p.=,ENST00000529824,;TIAM2,synonymous_variant,p.=,ENST00000528535,;TIAM2,synonymous_variant,p.=,ENST00000528391,;TIAM2,synonymous_variant,p.=,ENST00000456877,;TIAM2,synonymous_variant,p.=,ENST00000543712,;							LOW	2917/5106		TIAM2_HUMAN			Transcript			.	ENSP00000327315		CCDS34558.1			1	
AMELX	0	LGGM	GRCh37	X	11316694	11316694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	4	.	.	ENST00000380712.3:c.213G>T	p.Met71Ile	p.M71I	ENST00000380712	NM_182680.1	71	atG/atT	0	1		UPI000012596C	0	NA	ENST00000380714		ENSG00000125363	461		50	2.65		HGNC	p.M41I		AMELX		SNV			1				ENST00000348912	protein_coding	getma.org/?cm=var&var=hg19,X,11316694,G,T&fts=all		SMART_domains:SM00818,Pfam_domain:PF02948,hmmpanther:PTHR10039:SF7,hmmpanther:PTHR10039		M/I		T	medium	239/793		getma.org/?cm=msa&ty=f&p=AMELX_HUMAN&rb=17&re=191&var=M57I	tolerated(0.08)	B2BY28_HUMAN				AMELX,missense_variant,p.Met71Ile,ENST00000380712,NM_182680.1;AMELX,missense_variant,p.Met57Ile,ENST00000380714,NM_001142.2;AMELX,missense_variant,p.Met41Ile,ENST00000348912,NM_182681.1;ARHGAP6,intron_variant,,ENST00000337414,NM_013427.2;ARHGAP6,intron_variant,,ENST00000380736,NM_001287242.1;ARHGAP6,intron_variant,,ENST00000380718,NM_006125.2;ARHGAP6,intron_variant,,ENST00000380732,;ARHGAP6,intron_variant,,ENST00000413512,;ARHGAP6,intron_variant,,ENST00000489330,;ARHGAP6,intron_variant,,ENST00000495242,;							MODERATE	171/576	M57I	AMELX_HUMAN			Transcript		benign(0.174)	.	ENSP00000370090		CCDS14144.1			1	
ITSN1	0	LGGM	GRCh37	21	35208844	35208844	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000381318.3:c.3569C>A	p.Pro1190His	p.P1190H	ENST00000381318	NM_003024.2	1190	cCt/cAt	0	1	1	UPI00001403C6	0	getma.org/pdb.php?prot=ITSN1_HUMAN&from=1161&to=1206&var=P1190H	ENST00000381318		ENSG00000205726	6183		34	1.335		HGNC	p.P1190H		ITSN1		SNV							ENST00000381285	protein_coding	getma.org/?cm=var&var=hg19,21,35208844,C,A&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452,Prints_domain:PR00499		P/H		A	low	3857/17015		getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=1161&re=1206&var=P1190H	deleterious(0.03)	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,missense_variant,p.Pro1190His,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Pro1190His,ENST00000381285,;ITSN1,missense_variant,p.Pro1185His,ENST00000399367,;ITSN1,missense_variant,p.Pro1190His,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Pro1185His,ENST00000399352,;ITSN1,missense_variant,p.Pro1114His,ENST00000399349,;ITSN1,missense_variant,p.Pro1185His,ENST00000437442,;ITSN1,missense_variant,p.Pro1119His,ENST00000399355,;ITSN1,missense_variant,p.Pro1148His,ENST00000399353,;ITSN1,3_prime_UTR_variant,,ENST00000399326,;ITSN1,3_prime_UTR_variant,,ENST00000379960,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,non_coding_transcript_exon_variant,,ENST00000479424,;ITSN1,non_coding_transcript_exon_variant,,ENST00000495656,;ITSN1,non_coding_transcript_exon_variant,,ENST00000472548,;ITSN1,non_coding_transcript_exon_variant,,ENST00000489261,;ITSN1,non_coding_transcript_exon_variant,,ENST00000462212,;ITSN1,intron_variant,,ENST00000475422,;ITSN1,downstream_gene_variant,,ENST00000437126,;							MODERATE	3569/5166	P1190H	ITSN1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000370719		CCDS33545.1			1	
ACVR1B	0	LGGM	GRCh37	12	52387824	52387824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000541224.1:c.1571C>A	p.Ala524Asp	p.A524D	ENST00000541224		524	gCc/gAc	0	1		UPI000000D98F	0	getma.org/pdb.php?prot=ACV1B_HUMAN&from=207&to=494&var=A483D	ENST00000257963		ENSG00000135503	172		36	1.875		HGNC	p.A431D		ACVR1B		SNV							ENST00000542485	protein_coding	getma.org/?cm=var&var=hg19,12,52387824,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF22,PROSITE_profiles:PS50011		A/D		A	low	1525/4563		getma.org/?cm=msa&ty=f&p=ACV1B_HUMAN&rb=207&re=494&var=A483D	deleterious(0)	F5H5Q2_HUMAN				ACVR1B,missense_variant,p.Ala483Asp,ENST00000257963,NM_020328.3,NM_004302.4;ACVR1B,missense_variant,p.Ala431Asp,ENST00000542485,NM_020327.3;ACVR1B,missense_variant,p.Ala524Asp,ENST00000541224,;ACVR1B,downstream_gene_variant,,ENST00000426655,;ACVR1B,downstream_gene_variant,,ENST00000563121,;							MODERATE	1448/1518	A483D	ACV1B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000257963		CCDS8816.1			1	
KCNJ13	0	LGGM	GRCh37	2	233636039	233636039	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000233826.3:c.34C>A	p.Leu12Ile	p.L12I	ENST00000233826	NM_002242.4	12	Ctc/Atc	0	1	1	UPI000012D8AF	0	NA	ENST00000233826		ENSG00000115474	6259		37	1.525		HGNC	p.L12I		KCNJ13		SNV			1				ENST00000409779	protein_coding	getma.org/?cm=var&var=hg19,2,233636039,G,T&fts=all		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF3,PIRSF_domain:PIRSF005465,Prints_domain:PR01679		L/I		T	low	174/2950		getma.org/?cm=msa&ty=f&p=IRK13_HUMAN&rb=1&re=50&var=L12I	tolerated(0.15)	C9JWD6_HUMAN			YES	KCNJ13,missense_variant,p.Leu12Ile,ENST00000233826,NM_002242.4;KCNJ13,missense_variant,p.Leu12Ile,ENST00000410029,;KCNJ13,missense_variant,p.Leu12Ile,ENST00000409779,NM_001172416.1;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,;KCNJ13,intron_variant,,ENST00000438786,;GIGYF2,intron_variant,,ENST00000445650,;GIGYF2,intron_variant,,ENST00000424414,;GIGYF2,intron_variant,,ENST00000421778,;GIGYF2,intron_variant,,ENST00000455139,;GIGYF2,intron_variant,,ENST00000436349,;KCNJ13,upstream_gene_variant,,ENST00000444142,;AC064852.4,upstream_gene_variant,,ENST00000427571,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000463554,;GIGYF2,downstream_gene_variant,,ENST00000473170,;GIGYF2,downstream_gene_variant,,ENST00000475530,;GIGYF2,intron_variant,,ENST00000424038,;							MODERATE	34/1083	L12I	IRK13_HUMAN			Transcript		benign(0.162)	.	ENSP00000233826		CCDS2498.1			1	
KLHL29	0	LGGM	GRCh37	2	23918558	23918558	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	4	.	.	ENST00000486442.1:c.1608G>T	p.Val536=	p.V536=	ENST00000486442	NM_052920.1	536	gtG/gtT	0	1	1	UPI000058F1B6	0		ENST00000486442		ENSG00000119771	29404		22			HGNC	p.V536V		KLHL29		SNV							ENST00000486442	protein_coding			SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412:SF10,hmmpanther:PTHR24412		V		T		2325/5287				Q53T86_HUMAN			YES	KLHL29,synonymous_variant,p.=,ENST00000486442,NM_052920.1;KLHL29,synonymous_variant,p.=,ENST00000288548,;KLHL29,non_coding_transcript_exon_variant,,ENST00000471654,;							LOW	1608/2628		KLH29_HUMAN			Transcript			.	ENSP00000420659		CCDS54335.1			1	
KIAA0556	0	LGGM	GRCh37	16	27777693	27777693	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000261588.4:c.3873G>T	p.Pro1291=	p.P1291=	ENST00000261588	NM_015202.2	1291	ccG/ccT	0	1	1	UPI000045693C	0		ENST00000261588		ENSG00000047578	29068		35			HGNC	p.P1291P		KIAA0556		SNV							ENST00000261588	protein_coding			Pfam_domain:PF14652,hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0		P		T		3892/6616				B4DHT8_HUMAN			YES	KIAA0556,synonymous_variant,p.=,ENST00000261588,NM_015202.2;							LOW	3873/4857		K0556_HUMAN			Transcript			.	ENSP00000261588		CCDS32415.1			1	
GIGYF2	0	LGGM	GRCh37	2	233721550	233721550	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	49	4	.	.	ENST00000409451.3:c.3943G>T	p.Glu1315Ter	p.E1315*	ENST00000409451		1315	Gag/Tag	0	1		UPI00001BD8AE	0	NA	ENST00000373563		ENSG00000204120	11960		53	0		HGNC	p.E1294X		GIGYF2		SNV			1				ENST00000373563	protein_coding	getma.org/?cm=var&var=hg19,2,233721550,G,T&fts=all		hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38		E/*		T	NA	4075/5847		NA		C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J7G1_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN,B9EG55_HUMAN				GIGYF2,stop_gained,p.Glu1316Ter,ENST00000373566,;GIGYF2,stop_gained,p.Glu1294Ter,ENST00000409547,NM_015575.3;GIGYF2,stop_gained,p.Glu1316Ter,ENST00000409480,NM_001103147.1;GIGYF2,stop_gained,p.Glu1315Ter,ENST00000409451,;GIGYF2,stop_gained,p.Glu1294Ter,ENST00000373563,NM_001103146.1;GIGYF2,stop_gained,p.Glu1288Ter,ENST00000409196,NM_001103148.1;C2orf82,upstream_gene_variant,,ENST00000448993,;GIGYF2,non_coding_transcript_exon_variant,,ENST00000474312,;							HIGH	3880/3900	E1294*	PERQ2_HUMAN			Transcript			.	ENSP00000362664		CCDS33401.1			1	
CPA3	0	LGGM	GRCh37	3	148601458	148601458	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	75	4	.	.	ENST00000296046.3:c.837C>A	p.Ser279=	p.S279=	ENST00000296046	NM_001870.2	279	tcC/tcA	0	1	1	UPI000013E2F4	0		ENST00000296046		ENSG00000163751	2298		79			HGNC	p.S279S		CPA3		SNV							ENST00000296046	protein_coding			hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF65,Pfam_domain:PF00246,Gene3D:3.40.630.10,SMART_domains:SM00631,Superfamily_domains:SSF53187		S		A		889/1795							YES	CPA3,synonymous_variant,p.=,ENST00000296046,NM_001870.2;RP11-680B3.2,intron_variant,,ENST00000488190,;CPA3,non_coding_transcript_exon_variant,,ENST00000477926,;							LOW	837/1254		CBPA3_HUMAN			Transcript			.	ENSP00000296046		CCDS3138.1			1	
FAM47E-STBD1	0	LGGM	GRCh37	4	77184938	77184938	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000424749.2:c.502G>T	p.Gly168Ter	p.G168*	ENST00000424749	NM_001136570.2	168	Gga/Tga	0	1	1	UPI0000EE2C6D	0	NA	ENST00000515604		ENSG00000272414	44667		42	0		Clone_based_vega_gene	p.G55X		FAM47E-STBD1		SNV							ENST00000510197	protein_coding	getma.org/?cm=var&var=hg19,4,77184938,G,T&fts=all		hmmpanther:PTHR11064,hmmpanther:PTHR11064:SF22,Pfam_domain:PF14642		G/*		T	NA	528/3029		NA					YES	FAM47E-STBD1,stop_gained,p.Gly168Ter,ENST00000515604,NM_001242939.1;FAM47E,stop_gained,p.Gly55Ter,ENST00000510197,NM_001242936.1;FAM47E,stop_gained,p.Gly168Ter,ENST00000424749,NM_001136570.2;FAM47E,stop_gained,p.Gly55Ter,ENST00000339906,;FAM47E,stop_gained,p.Gly78Ter,ENST00000512895,;FAM47E,stop_gained,p.Gly52Ter,ENST00000606246,;FAM47E-STBD1,5_prime_UTR_variant,,ENST00000539752,;FAM47E-STBD1,upstream_gene_variant,,ENST00000514140,;FAM47E-STBD1,missense_variant,p.Lys52Asn,ENST00000509377,;FAM47E-STBD1,missense_variant,p.Lys52Asn,ENST00000514365,;FAM47E,non_coding_transcript_exon_variant,,ENST00000502320,;FAM47E,non_coding_transcript_exon_variant,,ENST00000510328,;FAM47E,upstream_gene_variant,,ENST00000606550,;							HIGH	502/1056	G168*				Transcript			.	ENSP00000422067		CCDS58908.1			1	
ZBTB37	0	LGGM	GRCh37	1	173842617	173842617	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000367701.5:c.936C>A	p.Ser312=	p.S312=	ENST00000367701		312	tcC/tcA	0	1	1	UPI0000203C09	0		ENST00000367701		ENSG00000185278	28365		37			HGNC	p.S312S		ZBTB37		SNV							ENST00000367702	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF2		S		A		1127/19128							YES	ZBTB37,synonymous_variant,p.=,ENST00000367701,;ZBTB37,synonymous_variant,p.=,ENST00000427304,NM_001122770.1;ZBTB37,synonymous_variant,p.=,ENST00000432989,NM_032522.3;ZBTB37,synonymous_variant,p.=,ENST00000367702,;ZBTB37,intron_variant,,ENST00000367704,;GAS5,upstream_gene_variant,,ENST00000430245,;							LOW	936/1512		ZBT37_HUMAN			Transcript			.	ENSP00000356674		CCDS44278.1			1	
CSTF3	0	LGGM	GRCh37	11	33129502	33129502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	4	.	.	ENST00000323959.4:c.303G>T	p.Trp101Cys	p.W101C	ENST00000323959	NM_001326.2	101	tgG/tgT	0	1	1	UPI000006ECC3	0	getma.org/pdb.php?prot=CSTF3_HUMAN&from=1&to=200&var=W101C	ENST00000323959		ENSG00000176102	2485		45	2.35		HGNC	p.W133C		CSTF3		SNV							ENST00000524827	protein_coding	getma.org/?cm=var&var=hg19,11,33129502,C,A&fts=all		hmmpanther:PTHR19980,SMART_domains:SM00386,Superfamily_domains:SSF48452		W/C		A	medium	443/2797		getma.org/?cm=msa&ty=f&p=CSTF3_HUMAN&rb=1&re=200&var=W101C	deleterious(0)	E9PJ06_HUMAN			YES	CSTF3,missense_variant,p.Trp101Cys,ENST00000323959,NM_001326.2;CSTF3,missense_variant,p.Trp133Cys,ENST00000524827,;TCP11L1,downstream_gene_variant,,ENST00000324357,;TCP11L1,downstream_gene_variant,,ENST00000528962,;TCP11L1,downstream_gene_variant,,ENST00000527661,;							MODERATE	303/2154	W101C	CSTF3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000315791		CCDS7883.1			1	
RELN	0	LGGM	GRCh37	7	103214539	103214539	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	43	4	.	.	ENST00000428762.1:c.4511G>T	p.Arg1504Ile	p.R1504I	ENST00000428762	NM_005045.3	1504	aGa/aTa	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=1372&to=1571&var=R1504I	ENST00000428762		ENSG00000189056	9957		47	1.61		HGNC	p.R1504I		RELN		SNV			1				ENST00000424685	protein_coding	getma.org/?cm=var&var=hg19,7,103214539,C,A&fts=all		hmmpanther:PTHR11841		R/I		A	low	4671/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=1372&re=1571&var=R1504I	deleterious(0)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Arg1504Ile,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Arg1504Ile,ENST00000424685,;RELN,missense_variant,p.Arg1504Ile,ENST00000343529,NM_173054.2;							MODERATE	4511/10383	R1504I	RELN_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000392423		CCDS47680.1			1	
VPS13B	0	LGGM	GRCh37	8	100821672	100821672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	49	4	.	.	ENST00000358544.2:c.8086G>T	p.Gly2696Trp	p.G2696W	ENST00000358544	NM_017890.4	2696	Ggg/Tgg	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		53	2.005		HGNC	p.G2696W		VPS13B		SNV			1				ENST00000358544	protein_coding	getma.org/?cm=var&var=hg19,8,100821672,G,T&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0,Pfam_domain:PF06650		G/W		T	medium	8197/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=2628&re=2730&var=G2696W	deleterious(0)				YES	VPS13B,missense_variant,p.Gly2696Trp,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Gly2671Trp,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;							MODERATE	8086/12069	G2696W	VP13B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000351346		CCDS6280.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123485489	123485489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000529750.1:c.1835C>A	p.Pro612His	p.P612H	ENST00000529750	NM_020716.1	612	cCc/cAc	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		35	0		HGNC	p.P619H		GRAMD1B		SNV							ENST00000456860	protein_coding	getma.org/?cm=var&var=hg19,11,123485489,C,A&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		P/H		A	neutral	2162/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=564&re=738&var=P612H	deleterious(0.02)				YES	GRAMD1B,missense_variant,p.Pro612His,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Pro572His,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Pro619His,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Pro612His,ENST00000322282,;GRAMD1B,missense_variant,p.Pro303His,ENST00000450171,;GRAMD1B,downstream_gene_variant,,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000525945,;							MODERATE	1835/2217	P612H	GRM1B_HUMAN			Transcript		possibly_damaging(0.503)	.	ENSP00000436500		CCDS53720.1			1	
TRGV4	0	LGGM	GRCh37	7	38393392	38393392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000390345.2:c.278G>T	p.Arg93Met	p.R93M	ENST00000390345		93	aGg/aTg	0	1	1	UPI0000113D50	0		ENST00000390345		ENSG00000211698	12289		35			HGNC	p.R93M		TRGV4		SNV							ENST00000390345	TR_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19256,hmmpanther:PTHR19256:SF22,SMART_domains:SM00406,Superfamily_domains:SSF48726		R/M		A		612/688			tolerated(0.1)				YES	TRGV4,missense_variant,p.Arg93Met,ENST00000390345,;TRGV5,upstream_gene_variant,,ENST00000390344,;TRGV3,downstream_gene_variant,,ENST00000390346,;							MODERATE	278/354					Transcript		possibly_damaging(0.777)	.	ENSP00000374868					1	
SPTAN1	0	LGGM	GRCh37	9	131356617	131356617	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	4	.	.	ENST00000372739.3:c.3379G>T	p.Glu1127Ter	p.E1127*	ENST00000372739	NM_001130438.2	1127	Gag/Tag	0	1		UPI000022DA2E	0	NA	ENST00000372731		ENSG00000197694	11273		19	0		HGNC	p.E1127X		SPTAN1		SNV			1				ENST00000358161	protein_coding	getma.org/?cm=var&var=hg19,9,131356617,G,T&fts=all		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF250,SMART_domains:SM00150,Superfamily_domains:SSF46966		E/*		T	NA	3489/7857		NA						SPTAN1,stop_gained,p.Glu1127Ter,ENST00000358161,;SPTAN1,stop_gained,p.Glu1127Ter,ENST00000372739,NM_001130438.2;SPTAN1,stop_gained,p.Glu1127Ter,ENST00000372731,NM_003127.3,NM_001195532.1;SPTAN1,non_coding_transcript_exon_variant,,ENST00000475367,;							HIGH	3379/7419	E1127*	SPTN1_HUMAN			Transcript			.	ENSP00000361816		CCDS6905.1			1	
ROS1	0	LGGM	GRCh37	6	117700250	117700250	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000368508.3:c.2569C>A	p.Leu857Met	p.L857M	ENST00000368508	NM_002944.2	857	Ctg/Atg	0	1	1	UPI000013D467	0	NA	ENST00000368508		ENSG00000047936	10261		38	0.975		HGNC	p.L857M		ROS1	6.08E-05	SNV							ENST00000368508	protein_coding	getma.org/?cm=var&var=hg19,6,117700250,G,T&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304,Superfamily_domains:SSF63825		L/M		T	low	2768/7435		getma.org/?cm=msa&ty=f&p=ROS1_HUMAN&rb=801&re=1000&var=L857M	deleterious(0)				YES	ROS1,missense_variant,p.Leu857Met,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Leu852Met,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;							MODERATE	2569/7044	L857M	ROS1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357494	8.24E-06	CCDS5116.1			1	
KDM3B	0	LGGM	GRCh37	5	137727482	137727482	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000314358.5:c.2161G>T	p.Gly721Trp	p.G721W	ENST00000314358	NM_016604.3	721	Ggg/Tgg	0	1	1	UPI000020C6A8	0	NA	ENST00000314358		ENSG00000120733	1337		38	0.695		HGNC	p.G377W		KDM3B		SNV							ENST00000394866	protein_coding	getma.org/?cm=var&var=hg19,5,137727482,G,T&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8		G/W		T	neutral	2361/6813		getma.org/?cm=msa&ty=f&p=KDM3B_HUMAN&rb=644&re=843&var=G721W	deleterious_low_confidence(0)	F5H275_HUMAN			YES	KDM3B,missense_variant,p.Gly721Trp,ENST00000314358,NM_016604.3;KDM3B,missense_variant,p.Gly377Trp,ENST00000394866,;KDM3B,intron_variant,,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,intron_variant,,ENST00000507996,;							MODERATE	2161/5286	G721W	KDM3B_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000326563		CCDS34242.1			1	
NODAL	0	LGGM	GRCh37	10	72195488	72195488	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	4	.	.	ENST00000287139.3:c.445G>T	p.Gly149Cys	p.G149C	ENST00000287139	NM_018055.4	149	Ggc/Tgc	0	1	1	UPI000013DE93	0	NA	ENST00000287139		ENSG00000156574	7865		19	1.845		HGNC	p.G94C		NODAL		SNV			1				ENST00000414871	protein_coding	getma.org/?cm=var&var=hg19,10,72195488,C,A&fts=all		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF126		G/C		A	low	445/1665		getma.org/?cm=msa&ty=f&p=NODAL_HUMAN&rb=26&re=178&var=G149C	deleterious(0.01)				YES	NODAL,missense_variant,p.Gly149Cys,ENST00000287139,NM_018055.4;NODAL,missense_variant,p.Gly94Cys,ENST00000414871,;AC022532.1,synonymous_variant,p.=,ENST00000420338,;							MODERATE	445/1044	G149C	NODAL_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000287139		CCDS7304.1			1	
CALCR	0	LGGM	GRCh37	7	93090134	93090134	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	82	4	.	.	ENST00000359558.2:c.749C>A	p.Pro250Gln	p.P250Q	ENST00000359558	NM_001164737.1	250	cCg/cAg	0	1	1	UPI0001B8380B	0	NA	ENST00000359558		ENSG00000004948	1440		86	1.39		HGNC	p.P232Q	rs371453754	CALCR		SNV	A:0						ENST00000421592	protein_coding	getma.org/?cm=var&var=hg19,7,93090134,G,T&fts=all	A:0	PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00361		P/Q	A:0.0001	T	low	1049/3696	1.50E-05	getma.org/?cm=msa&ty=f&p=CALCR_HUMAN&rb=184&re=403&var=P232Q	deleterious(0.01)		A:0	A:0.001	YES	CALCR,missense_variant,p.Pro250Gln,ENST00000359558,NM_001164737.1;CALCR,missense_variant,p.Pro232Gln,ENST00000421592,;CALCR,missense_variant,p.Pro232Gln,ENST00000360249,;CALCR,missense_variant,p.Pro216Gln,ENST00000394441,NM_001164738.1;CALCR,missense_variant,p.Pro216Gln,ENST00000426151,NM_001742.3;CALCR,missense_variant,p.Pro232Gln,ENST00000423724,;CALCR,missense_variant,p.Pro216Gln,ENST00000415529,;		A:0.0004					MODERATE	749/1527	P232Q			A:0	Transcript		probably_damaging(0.996)	.	ENSP00000352561	8.24E-06	CCDS55125.1		A:0.001	1	
FHOD3	0	LGGM	GRCh37	18	34289295	34289295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	4	.	.	ENST00000257209.4:c.1949C>A	p.Ser650Tyr	p.S650Y	ENST00000257209	NM_025135.2	650	tCc/tAc	0	1		UPI0000EE543D	0	NA	ENST00000359247		ENSG00000134775	26178		16	1.1		HGNC	p.S633Y		FHOD3		SNV							ENST00000359247	protein_coding	getma.org/?cm=var&var=hg19,18,34289295,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213		S/Y		A	low	1898/4518		getma.org/?cm=msa&ty=f&p=FHOD3_HUMAN&rb=573&re=772&var=S633Y	deleterious_low_confidence(0)					FHOD3,missense_variant,p.Ser650Tyr,ENST00000257209,NM_025135.2;FHOD3,missense_variant,p.Ser825Tyr,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Ser612Tyr,ENST00000445677,;FHOD3,missense_variant,p.Ser633Tyr,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Ser411Tyr,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;							MODERATE	1898/4269	S633Y	FHOD3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000352186		CCDS62419.1			1	
CCDC116	0	LGGM	GRCh37	22	21990917	21990917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	4	.	.	ENST00000292779.3:c.1400C>A	p.Pro467His	p.P467H	ENST00000292779	NM_152612.2	467	cCc/cAc	0	1	1	UPI00000741C9	0	NA	ENST00000292779		ENSG00000161180	26688		29	1.15		HGNC	p.P467H		CCDC116		SNV							ENST00000292779	protein_coding	getma.org/?cm=var&var=hg19,22,21990917,C,A&fts=all				P/H		A	low	1561/2260		getma.org/?cm=msa&ty=f&p=CC116_HUMAN&rb=1&re=510&var=P467H	deleterious(0)				YES	CCDC116,missense_variant,p.Pro467His,ENST00000292779,NM_152612.2;CCDC116,downstream_gene_variant,,ENST00000607942,;CCDC116,downstream_gene_variant,,ENST00000425975,;KB-1440D3.14,upstream_gene_variant,,ENST00000609038,;							MODERATE	1400/1842	P467H	CC116_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000292779		CCDS13791.1			1	
OR52E2	0	LGGM	GRCh37	11	5080155	5080155	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	4	.	.	ENST00000321522.2:c.703C>A	p.Arg235=	p.R235=	ENST00000321522	NM_001005164.2	235	Cga/Aga	0	1	1	UPI0000046AE3	0		ENST00000321522		ENSG00000176787	14769		33			HGNC	p.R235R		OR52E2		SNV							ENST00000321522	protein_coding			Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF118,PROSITE_profiles:PS50262		R		T		703/978							YES	OR52E2,synonymous_variant,p.=,ENST00000321522,NM_001005164.2;							LOW	703/978		O52E2_HUMAN			Transcript			.	ENSP00000322088		CCDS31371.1			1	
SLC16A4	0	LGGM	GRCh37	1	110919729	110919729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	4	.	.	ENST00000369779.4:c.1085G>T	p.Trp362Leu	p.W362L	ENST00000369779	NM_001201547.1	362	tGg/tTg	0	1	1	UPI000004EE9B	0	NA	ENST00000369779		ENSG00000168679	10925		35	1.585		HGNC	p.W252L		SLC16A4		SNV							ENST00000437429	protein_coding	getma.org/?cm=var&var=hg19,1,110919729,C,A&fts=all		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF14,Superfamily_domains:SSF103473		W/L		A	low	1335/2632		getma.org/?cm=msa&ty=f&p=MOT5_HUMAN&rb=322&re=487&var=W362L	tolerated(0.23)				YES	SLC16A4,missense_variant,p.Trp362Leu,ENST00000369779,NM_001201547.1,NM_004696.2;SLC16A4,missense_variant,p.Trp314Leu,ENST00000472422,NM_001201546.1;SLC16A4,missense_variant,p.Trp194Leu,ENST00000369781,NM_001201549.1;SLC16A4,missense_variant,p.Trp300Leu,ENST00000541986,;SLC16A4,missense_variant,p.Trp252Leu,ENST00000437429,NM_001201548.1;SLC16A4,missense_variant,p.Trp129Leu,ENST00000467986,;RP5-1074L1.4,downstream_gene_variant,,ENST00000609909,;SLC16A4,downstream_gene_variant,,ENST00000497687,;SLC16A4,3_prime_UTR_variant,,ENST00000461647,;SLC16A4,3_prime_UTR_variant,,ENST00000528649,;SLC16A4,3_prime_UTR_variant,,ENST00000492412,;							MODERATE	1085/1464	W362L	MOT5_HUMAN			Transcript		benign(0.306)	.	ENSP00000358794		CCDS823.1			1	
ATP10B	0	LGGM	GRCh37	5	160059221	160059221	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000327245.5:c.1535G>T	p.Arg512Leu	p.R512L	ENST00000327245	NM_025153.2	512	cGg/cTg	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		26	1.245		HGNC	p.R120L		ATP10B		SNV							ENST00000520108	protein_coding	getma.org/?cm=var&var=hg19,5,160059221,C,A&fts=all		Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		R/L		A	low	2382/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=430&re=1064&var=R512L	tolerated(0.09)				YES	ATP10B,missense_variant,p.Arg512Leu,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Arg120Leu,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,downstream_gene_variant,,ENST00000326831,;ATP10B,downstream_gene_variant,,ENST00000517802,;ATP10B,downstream_gene_variant,,ENST00000521033,;							MODERATE	1535/4386	R512L	AT10B_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000313600		CCDS43394.1			1	
ZNF140	0	LGGM	GRCh37	12	133683015	133683015	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	4	.	.	ENST00000355557.2:c.1152C>A	p.Pro384=	p.P384=	ENST00000355557	NM_003440.2	384	ccC/ccA	0	1	1	UPI0000074687	0		ENST00000355557		ENSG00000196387	12925		40			HGNC	p.P384P		ZNF140		SNV							ENST00000355557	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF36,Superfamily_domains:SSF57667		P		A		2435/3550				Q05CP6_HUMAN,I3L0D9_HUMAN,F5H4I1_HUMAN,B4DKI0_HUMAN			YES	ZNF140,synonymous_variant,p.=,ENST00000355557,NM_003440.2;ZNF140,synonymous_variant,p.=,ENST00000544426,;ZNF140,3_prime_UTR_variant,,ENST00000440550,;ZNF140,downstream_gene_variant,,ENST00000429434,;ZNF140,downstream_gene_variant,,ENST00000356456,;ZNF140,downstream_gene_variant,,ENST00000319849,;ZNF140,downstream_gene_variant,,ENST00000412146,;ZNF140,3_prime_UTR_variant,,ENST00000536790,;ZNF140,downstream_gene_variant,,ENST00000392041,;							LOW	1152/1374		ZN140_HUMAN			Transcript			.	ENSP00000347755		CCDS9282.1			1	
NSUN4	0	LGGM	GRCh37	1	46818572	46818572	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	4	.	.	ENST00000474844.1:c.625C>A	p.Arg209=	p.R209=	ENST00000474844	NM_199044.3	209	Cga/Aga	0	1	1	UPI000013EBC5	0		ENST00000474844		ENSG00000117481	31802		74			HGNC	p.R160R	rs373529537	NSUN4		SNV	T:0						ENST00000536062	protein_coding		T:0.0008	PROSITE_profiles:PS51686,hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF3,Gene3D:3.40.50.150,Pfam_domain:PF01189,Superfamily_domains:SSF53335		R	T:0.0001	A		1275/2150					T:0	T:0	YES	NSUN4,synonymous_variant,p.=,ENST00000474844,NM_199044.3;NSUN4,synonymous_variant,p.=,ENST00000537428,NM_001256128.1;NSUN4,synonymous_variant,p.=,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,;NSUN4,3_prime_UTR_variant,,ENST00000307089,;		T:0.0002					LOW	625/1155		NSUN4_HUMAN	0.000151	T:0	Transcript			.	ENSP00000419740	8.24E-06	CCDS534.1		T:0	1	
POU1F1	0	LGGM	GRCh37	3	87313652	87313652	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	4	.	.	ENST00000344265.3:c.303C>A	p.Thr101=	p.T101=	ENST00000344265	NM_001122757.1	101	acC/acA	0	1		UPI0000131B22	0		ENST00000350375		ENSG00000064835	9210		48			HGNC	p.T75T		POU1F1		SNV			1				ENST00000560656	protein_coding			hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF82		T		T		350/1491								POU1F1,synonymous_variant,p.=,ENST00000350375,NM_000306.2;POU1F1,synonymous_variant,p.=,ENST00000344265,NM_001122757.1;POU1F1,synonymous_variant,p.=,ENST00000560656,;POU1F1,intron_variant,,ENST00000561167,;							LOW	225/876		PIT1_HUMAN			Transcript			.	ENSP00000263781		CCDS2919.1			1	
SYT6	0	LGGM	GRCh37	1	114682436	114682436	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	4	.	.	ENST00000609117.1:c.58G>T	p.Ala20Ser	p.A20S	ENST00000609117		20	Gcc/Tcc	0	1		UPI0000D61F91	0	NA	ENST00000610222		ENSG00000134207	18638		29	0		HGNC	p.A20S		SYT6		SNV							ENST00000369547	protein_coding	getma.org/?cm=var&var=hg19,1,114682436,C,A&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF45		A/S		A	neutral	460/1707		getma.org/?cm=msa&ty=f&p=SYT6_HUMAN&rb=91&re=245&var=A105S	tolerated(0.45)	I6L9C3_HUMAN,B1AMB7_HUMAN,B1AMB6_HUMAN				SYT6,missense_variant,p.Ala105Ser,ENST00000393296,;SYT6,missense_variant,p.Ala20Ser,ENST00000609117,;SYT6,missense_variant,p.Ala20Ser,ENST00000369547,NM_001270805.1;SYT6,missense_variant,p.Ala20Ser,ENST00000607941,NM_205848.3;SYT6,missense_variant,p.Ala105Ser,ENST00000610222,;SYT6,missense_variant,p.Ala20Ser,ENST00000608203,;SYT6,missense_variant,p.Ala72Ser,ENST00000608879,;SYT6,missense_variant,p.Ala20Ser,ENST00000609577,;SYT6,3_prime_UTR_variant,,ENST00000610121,;SYT6,3_prime_UTR_variant,,ENST00000610096,;							MODERATE	313/1533	A105S				Transcript		benign(0.006)	.	ENSP00000476396					1	
VPS13D	0	LGGM	GRCh37	1	12336958	12336958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000358136.3:c.3313C>A	p.Leu1105Ile	p.L1105I	ENST00000358136	NM_015378.2	1105	Cta/Ata	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		37	-0.805		HGNC	p.L1105I		VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12336958,C,A&fts=all		hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166		L/I		A	neutral	3443/16318		getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=919&re=1118&var=L1105I		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Leu1105Ile,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Leu1105Ile,ENST00000356315,NM_018156.2;VPS13D,upstream_gene_variant,,ENST00000011700,;							MODERATE	3313/13167	L1105I				Transcript		benign(0.013)	.	ENSP00000350854		CCDS30588.1			1	
AARS	0	LGGM	GRCh37	16	70287831	70287831	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000261772.8:c.2511C>A	p.Val837=	p.V837=	ENST00000261772	NM_001605.2	837	gtC/gtA	0	1	1	UPI0000169F0B	0		ENST00000261772		ENSG00000090861	20		31			HGNC	p.V837V		AARS		SNV			1				ENST00000261772	protein_coding			HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344		V		T		2655/3477							YES	AARS,synonymous_variant,p.=,ENST00000261772,NM_001605.2;EXOSC6,upstream_gene_variant,,ENST00000435634,NM_058219.2;AARS,downstream_gene_variant,,ENST00000565361,;AARS,downstream_gene_variant,,ENST00000564359,;AARS,non_coding_transcript_exon_variant,,ENST00000569825,;							LOW	2511/2907		SYAC_HUMAN			Transcript			.	ENSP00000261772		CCDS32474.1			1	
SSTR2	0	LGGM	GRCh37	17	71166553	71166553	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	4	.	.	ENST00000357585.2:c.1095C>A	p.Leu365=	p.L365=	ENST00000357585	NM_001050.2	365	ctC/ctA	0	1	1	UPI0000000808	0		ENST00000357585		ENSG00000180616	11331		26			HGNC	p.L365L		SSTR2		SNV							ENST00000357585	protein_coding			hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF6,Prints_domain:PR00588		L		A		1464/2096							YES	SSTR2,synonymous_variant,p.=,ENST00000357585,NM_001050.2;SSTR2,intron_variant,,ENST00000315332,;RP11-143K11.5,intron_variant,,ENST00000580671,;SSTR2,downstream_gene_variant,,ENST00000579323,;							LOW	1095/1110		SSR2_HUMAN			Transcript			.	ENSP00000350198		CCDS11691.1			1	
ABCG5	0	LGGM	GRCh37	2	44051159	44051159	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	4	.	.	ENST00000260645.1:c.1217G>T	p.Arg406Leu	p.R406L	ENST00000260645	NM_022436.2	406	cGg/cTg	0	1	1	UPI0000046560	0	NA	ENST00000260645		ENSG00000138075	13886		42	1.935		HGNC	p.R235L		ABCG5		SNV			1				ENST00000405322	protein_coding	getma.org/?cm=var&var=hg19,2,44051159,C,A&fts=all		Pfam_domain:PF01061,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF193,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		R/L		A	medium	1357/2740		getma.org/?cm=msa&ty=f&p=ABCG5_HUMAN&rb=366&re=580&var=R406L	deleterious(0.01)	Q96QZ3_HUMAN,Q96QZ2_HUMAN,Q53T83_HUMAN,Q53QN9_HUMAN,Q2T9G2_HUMAN			YES	ABCG5,missense_variant,p.Arg11Leu,ENST00000543989,;ABCG5,missense_variant,p.Arg235Leu,ENST00000405322,;ABCG5,missense_variant,p.Arg406Leu,ENST00000260645,NM_022436.2;ABCG5,3_prime_UTR_variant,,ENST00000486512,;ABCG5,3_prime_UTR_variant,,ENST00000409962,;							MODERATE	1217/1956	R406L	ABCG5_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000260645		CCDS1814.1			1	
EIF3B	0	LGGM	GRCh37	7	2418389	2418389	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	4	.	.	ENST00000360876.4:c.2220C>A	p.Ser740=	p.S740=	ENST00000360876	NM_001037283.1	740	tcC/tcA	0	1	1	UPI000013F934	0		ENST00000360876		ENSG00000106263	3280		16			HGNC	p.S740S		EIF3B		SNV							ENST00000397011	protein_coding			HAMAP:MF_03001,PIRSF_domain:PIRSF036424,hmmpanther:PTHR14068,hmmpanther:PTHR14068:SF0		S		A		2276/3055				Q86UM1_HUMAN,C9JQN7_HUMAN			YES	EIF3B,synonymous_variant,p.=,ENST00000360876,NM_001037283.1;EIF3B,synonymous_variant,p.=,ENST00000397011,NM_003751.3;EIF3B,non_coding_transcript_exon_variant,,ENST00000475415,;EIF3B,non_coding_transcript_exon_variant,,ENST00000465670,;EIF3B,non_coding_transcript_exon_variant,,ENST00000468611,;EIF3B,non_coding_transcript_exon_variant,,ENST00000494658,;							LOW	2220/2445		EIF3B_HUMAN			Transcript			.	ENSP00000354125		CCDS5332.1			1	
TNPO2	0	LGGM	GRCh37	19	12829988	12829988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	4	.	.	ENST00000425528.1:c.180G>T	p.Glu60Asp	p.E60D	ENST00000425528		60	gaG/gaT	0	1	1	UPI000013F0EA	0	getma.org/pdb.php?prot=TNPO2_HUMAN&from=31&to=99&var=E60D	ENST00000425528		ENSG00000105576	19998		37	1.1		HGNC	p.E60D		TNPO2		SNV							ENST00000592287	protein_coding	getma.org/?cm=var&var=hg19,19,12829988,C,A&fts=all		Superfamily_domains:SSF48371,SMART_domains:SM00913,Gene3D:1.25.10.10,Pfam_domain:PF03810,hmmpanther:PTHR10527:SF17,hmmpanther:PTHR10527		E/D		A	low	538/5122		getma.org/?cm=msa&ty=f&p=TNPO2_HUMAN&rb=31&re=99&var=E60D	tolerated(0.29)	K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN			YES	TNPO2,missense_variant,p.Glu60Asp,ENST00000425528,;TNPO2,missense_variant,p.Glu60Asp,ENST00000441499,NM_001136195.1;TNPO2,missense_variant,p.Glu60Asp,ENST00000450764,;TNPO2,missense_variant,p.Glu60Asp,ENST00000356861,NM_013433.4;TNPO2,missense_variant,p.Glu60Asp,ENST00000588216,;TNPO2,missense_variant,p.Glu60Asp,ENST00000592287,NM_001136196.1;TNPO2,missense_variant,p.Glu60Asp,ENST00000589337,;TNPO2,downstream_gene_variant,,ENST00000590781,;TNPO2,non_coding_transcript_exon_variant,,ENST00000589956,;TNPO2,missense_variant,p.Glu60Asp,ENST00000585886,;TNPO2,missense_variant,p.Glu60Asp,ENST00000586775,;TNPO2,missense_variant,p.Glu60Asp,ENST00000587654,;TNPO2,non_coding_transcript_exon_variant,,ENST00000588484,;TNPO2,upstream_gene_variant,,ENST00000588151,;							MODERATE	180/2694	E60D	TNPO2_HUMAN			Transcript		benign(0.002)	.	ENSP00000407182		CCDS45991.1			1	
BCDIN3D	0	LGGM	GRCh37	12	50236716	50236716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	4	.	.	ENST00000333924.4:c.155C>A	p.Pro52Gln	p.P52Q	ENST00000333924	NM_181708.2	52	cCg/cAg	0	1	1	UPI0000160802	0	NA	ENST00000333924		ENSG00000186666	27050		36	0.755		HGNC	p.P52Q		BCDIN3D		SNV							ENST00000333924	protein_coding	getma.org/?cm=var&var=hg19,12,50236716,G,T&fts=all		hmmpanther:PTHR12315,hmmpanther:PTHR12315:SF1,Low_complexity_(Seg):seg,Superfamily_domains:SSF53335		P/Q		T	neutral	197/1502		getma.org/?cm=msa&ty=f&p=BN3D2_HUMAN&rb=1&re=156&var=P52Q	tolerated(0.2)				YES	BCDIN3D,missense_variant,p.Pro52Gln,ENST00000333924,NM_181708.2;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;							MODERATE	155/879	P52Q	BN3D2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000335201		CCDS8790.1			1	
NAV2	0	LGGM	GRCh37	11	19970388	19970388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	4	.	.	ENST00000396087.3:c.2476G>T	p.Gly826Trp	p.G826W	ENST00000396087	NM_001244963.1	826	Ggg/Tgg	0	1	1	UPI00001E0580	0	NA	ENST00000396087		ENSG00000166833	15997		22	1.735		HGNC	p.G739W		NAV2		SNV							ENST00000360655	protein_coding	getma.org/?cm=var&var=hg19,11,19970388,G,T&fts=all		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		G/W		T	low	2575/7882		getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=731&re=2028&var=G826W	deleterious(0)				YES	NAV2,missense_variant,p.Gly803Trp,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Gly803Trp,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Gly739Trp,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Gly757Trp,ENST00000540292,;NAV2,missense_variant,p.Gly755Trp,ENST00000527559,;NAV2,missense_variant,p.Gly826Trp,ENST00000396087,NM_001244963.1;							MODERATE	2476/7467	G826W	NAV2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379396		CCDS58126.1			1	
MLLT4	0	LGGM	GRCh37	6	168352573	168352573	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	4	.	.	ENST00000392108.3:c.4518C>A	p.Ser1506=	p.S1506=	ENST00000392108	NM_001040000.2	1506	tcC/tcA	0	1		UPI000047089C	0		ENST00000447894		ENSG00000130396	7137		20			HGNC	p.S1506S		MLLT4		SNV							ENST00000344191	protein_coding			hmmpanther:PTHR10398		S		A		4518/5475								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,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,downstream_gene_variant,,ENST00000509296,;							LOW	4518/5475		AFAD_HUMAN			Transcript			.	ENSP00000404595					1	
VWA5B1	0	LGGM	GRCh37	1	20674745	20674745	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000375079.2:c.2769C>A	p.Ala923=	p.A923=	ENST00000375079	NM_001039500.2	923	gcC/gcA	0	1	1	UPI000066D8B8	0		ENST00000375079		ENSG00000158816	26538		34			HGNC	p.A923A		VWA5B1		SNV							ENST00000375083	protein_coding			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109		A		A		2965/3859				E9PQ62_HUMAN,E9PP07_HUMAN			YES	VWA5B1,synonymous_variant,p.=,ENST00000289815,;VWA5B1,synonymous_variant,p.=,ENST00000375079,NM_001039500.2;VWA5B1,synonymous_variant,p.=,ENST00000375083,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,synonymous_variant,p.=,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;							LOW	2769/3663		VW5B1_HUMAN			Transcript			.	ENSP00000364220					1	
METTL15	0	LGGM	GRCh37	11	28318379	28318379	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	58	4	.	.	ENST00000407364.3:c.679G>T	p.Gly227Trp	p.G227W	ENST00000407364		227	Ggg/Tgg	0	1	1	UPI0000DBEF34	0	getma.org/pdb.php?prot=MET15_HUMAN&from=69&to=407&var=G227W	ENST00000407364		ENSG00000169519	26606		62	4.255		HGNC	p.G227W		METTL15		SNV							ENST00000342303	protein_coding	getma.org/?cm=var&var=hg19,11,28318379,G,T&fts=all		Superfamily_domains:SSF81799,TIGRFAM_domain:TIGR00006,Pfam_domain:PF01795,Gene3D:1m6yA02,hmmpanther:PTHR11265:SF0,hmmpanther:PTHR11265,HAMAP:MF_01007		G/W		T	high	1031/4242		getma.org/?cm=msa&ty=f&p=MET15_HUMAN&rb=69&re=407&var=G227W	deleterious(0)				YES	METTL15,missense_variant,p.Gly227Trp,ENST00000342303,NM_152636.2;METTL15,missense_variant,p.Arg212Leu,ENST00000406787,NM_001113528.1;METTL15,missense_variant,p.Gly227Trp,ENST00000407364,;METTL15,missense_variant,p.Gly227Trp,ENST00000303459,;METTL15,3_prime_UTR_variant,,ENST00000451385,;							MODERATE	679/1224	G227W	MET15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384369		CCDS44559.1			1	
HPS1	0	LGGM	GRCh37	10	100189330	100189330	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	4	.	.	ENST00000325103.6:c.937G>T	p.Gly313Cys	p.G313C	ENST00000325103	NM_000195.3	313	Ggt/Tgt	0	1	1	UPI000006D5B0	0	NA	ENST00000325103		ENSG00000107521	5163		16	2.3		HGNC	p.G108C		HPS1		SNV			1				ENST00000359632	protein_coding	getma.org/?cm=var&var=hg19,10,100189330,C,A&fts=all		hmmpanther:PTHR12761		G/C		A	medium	1171/3703		getma.org/?cm=msa&ty=f&p=HPS1_HUMAN&rb=1&re=474&var=G313C	deleterious(0)				YES	HPS1,missense_variant,p.Gly313Cys,ENST00000325103,NM_000195.3;HPS1,missense_variant,p.Gly313Cys,ENST00000361490,;HPS1,missense_variant,p.Gly313Cys,ENST00000338546,NM_182639.2;HPS1,missense_variant,p.Gly108Cys,ENST00000359632,;HPS1,missense_variant,p.Gly148Cys,ENST00000414009,;MIR4685,downstream_gene_variant,,ENST00000578185,;HPS1,splice_region_variant,,ENST00000467246,;HPS1,splice_region_variant,,ENST00000478087,;HPS1,splice_region_variant,,ENST00000498219,;HPS1,splice_region_variant,,ENST00000470095,;HPS1,downstream_gene_variant,,ENST00000480020,;HPS1,upstream_gene_variant,,ENST00000497527,;							MODERATE	937/2103	G313C	HPS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000326649		CCDS7475.1			1	
SUFU	0	LGGM	GRCh37	10	104377122	104377122	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	4	.	.	ENST00000369902.3:c.1233G>T	p.Thr411=	p.T411=	ENST00000369902	NM_016169.3	411	acG/acT	0	1	1	UPI0000073C79	0		ENST00000369902		ENSG00000107882	16466		23			HGNC	p.T411T	COSM3670424	SUFU		SNV			1			1	ENST00000423559	protein_coding			Pfam_domain:PF12470,PIRSF_domain:PIRSF011844,hmmpanther:PTHR10928,hmmpanther:PTHR10928:SF2		T		T		1399/5001							YES	SUFU,synonymous_variant,p.=,ENST00000369902,NM_016169.3;SUFU,synonymous_variant,p.=,ENST00000423559,;SUFU,synonymous_variant,p.=,ENST00000369899,NM_001178133.1;					1		LOW	1233/1455		SUFU_HUMAN			Transcript			.	ENSP00000358918		CCDS7537.1			1	
EIF4B	0	LGGM	GRCh37	12	53412659	53412659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	4	.	.	ENST00000262056.9:c.229C>A	p.Pro77Thr	p.P77T	ENST00000262056	NM_001417.4	77	Cca/Aca	0	1	1	UPI000006F988	0	NA	ENST00000262056		ENSG00000063046	3285		38	2.65		HGNC	p.P77T		EIF4B		SNV							ENST00000549481	protein_coding	getma.org/?cm=var&var=hg19,12,53412659,C,A&fts=all		hmmpanther:PTHR23236,hmmpanther:PTHR23236:SF8		P/T		A	medium	555/4148		getma.org/?cm=msa&ty=f&p=IF4B_HUMAN&rb=1&re=97&var=P77T	deleterious(0)				YES	EIF4B,missense_variant,p.Pro77Thr,ENST00000262056,NM_001417.4;EIF4B,missense_variant,p.Pro77Thr,ENST00000416762,;EIF4B,missense_variant,p.Pro77Thr,ENST00000420463,;EIF4B,missense_variant,p.Pro77Thr,ENST00000549481,;EIF4B,missense_variant,p.Pro77Thr,ENST00000552490,;EIF4B,missense_variant,p.Pro31Thr,ENST00000551002,;RP11-983P16.4,non_coding_transcript_exon_variant,,ENST00000549388,;RP11-983P16.4,intron_variant,,ENST00000552905,;RP11-983P16.2,downstream_gene_variant,,ENST00000435621,;EIF4B,non_coding_transcript_exon_variant,,ENST00000551527,;EIF4B,non_coding_transcript_exon_variant,,ENST00000549645,;EIF4B,missense_variant,p.Pro77Thr,ENST00000550704,;EIF4B,missense_variant,p.Pro77Thr,ENST00000549077,;EIF4B,missense_variant,p.Pro77Thr,ENST00000550390,;EIF4B,non_coding_transcript_exon_variant,,ENST00000550025,;							MODERATE	229/1836	P77T	IF4B_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000262056		CCDS41788.1			1	
CAPRIN1	0	LGGM	GRCh37	11	34098145	34098145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	4	.	.	ENST00000341394.4:c.644G>T	p.Trp215Leu	p.W215L	ENST00000341394	NM_005898.4	215	tGg/tTg	0	1	1	UPI0000251DB5	0	NA	ENST00000341394		ENSG00000135387	6743		41	2.17		HGNC	p.W215L		CAPRIN1		SNV							ENST00000530820	protein_coding	getma.org/?cm=var&var=hg19,11,34098145,G,T&fts=all		hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3		W/L		T	medium	833/4108		getma.org/?cm=msa&ty=f&p=CAPR1_HUMAN&rb=201&re=366&var=W215L	deleterious(0.02)	G3V153_HUMAN,E9PLA9_HUMAN			YES	CAPRIN1,missense_variant,p.Trp215Leu,ENST00000341394,NM_005898.4;CAPRIN1,missense_variant,p.Trp215Leu,ENST00000389645,NM_203364.2;CAPRIN1,missense_variant,p.Trp215Leu,ENST00000530820,;CAPRIN1,missense_variant,p.Trp215Leu,ENST00000532820,;CAPRIN1,missense_variant,p.Trp134Leu,ENST00000529307,;CAPRIN1,downstream_gene_variant,,ENST00000534825,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000534042,;CAPRIN1,intron_variant,,ENST00000528856,;CAPRIN1,downstream_gene_variant,,ENST00000530008,;CAPRIN1,downstream_gene_variant,,ENST00000532755,;CAPRIN1,downstream_gene_variant,,ENST00000533641,;CAPRIN1,downstream_gene_variant,,ENST00000526494,;							MODERATE	644/2130	W215L	CAPR1_HUMAN			Transcript		benign(0.18)	.	ENSP00000340329		CCDS31453.1			1	
LONP1	0	LGGM	GRCh37	19	5693751	5693751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	4	.	.	ENST00000360614.3:c.2350C>A	p.Leu784Met	p.L784M	ENST00000360614	NM_004793.3	784	Ctg/Atg	0	1	1	UPI000012E7EF	0	getma.org/pdb.php?prot=LONM_HUMAN&from=736&to=949&var=L784M	ENST00000360614		ENSG00000196365	9479		21	2.305		HGNC	p.L588M		LONP1		SNV			1				ENST00000540670	protein_coding	getma.org/?cm=var&var=hg19,19,5693751,G,T&fts=all		HAMAP:MF_03120,hmmpanther:PTHR10046:SF23,hmmpanther:PTHR10046,Gene3D:3.30.230.10,Pfam_domain:PF05362,TIGRFAM_domain:TIGR00763,PIRSF_domain:PIRSF001174,Superfamily_domains:SSF54211		L/M		T	medium	2508/3236		getma.org/?cm=msa&ty=f&p=LONM_HUMAN&rb=736&re=949&var=L784M	deleterious(0.02)	K7EKE6_HUMAN,F5GZ27_HUMAN			YES	LONP1,missense_variant,p.Leu784Met,ENST00000360614,NM_004793.3;LONP1,missense_variant,p.Leu588Met,ENST00000540670,NM_001276480.1;LONP1,missense_variant,p.Leu720Met,ENST00000593119,NM_001276479.1;LONP1,missense_variant,p.Leu670Met,ENST00000585374,;LONP1,missense_variant,p.Leu654Met,ENST00000590729,;LONP1,missense_variant,p.Leu64Met,ENST00000589473,;RPL36,downstream_gene_variant,,ENST00000577222,;LONP1,downstream_gene_variant,,ENST00000590206,;RPL36,downstream_gene_variant,,ENST00000347512,NM_033643.2;RPL36,downstream_gene_variant,,ENST00000394580,NM_015414.3;RPL36,downstream_gene_variant,,ENST00000579446,;RPL36,downstream_gene_variant,,ENST00000579649,;RPL36,downstream_gene_variant,,ENST00000582463,;RPL36,downstream_gene_variant,,ENST00000582380,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;RPL36,downstream_gene_variant,,ENST00000590786,;							MODERATE	2350/2880	L784M	LONM_HUMAN			Transcript		possibly_damaging(0.448)	.	ENSP00000353826		CCDS12148.1			1	
AKR7L	0	LGGM	GRCh37	1	19593857	19593857	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	4	.	.	ENST00000420396.2:c.399C>A	p.Val133=	p.V133=	ENST00000420396		133	gtC/gtA	0	1	1	UPI0000236FED	0		ENST00000420396		ENSG00000211454	24056		34			HGNC	p.V133V	rs771354072	AKR7L		SNV							ENST00000420396	protein_coding			Gene3D:3.20.20.100,Pfam_domain:PF00248,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF181,Superfamily_domains:SSF51430		V		T		736/2115	1.50E-05						YES	AKR7L,synonymous_variant,p.=,ENST00000420396,;AKR7L,downstream_gene_variant,,ENST00000493176,;AKR7L,missense_variant,p.Arg202Ser,ENST00000457194,;AKR7L,synonymous_variant,p.=,ENST00000429712,;							LOW	399/462		ARK74_HUMAN			Transcript			.	ENSP00000406430	8.24E-06				1	
RAB40A	0	LGGM	GRCh37	X	102755560	102755560	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	4	.	.	ENST00000372633.1:c.125C>A	p.Pro42Gln	p.P42Q	ENST00000372633		42	cCg/cAg	0	1		UPI000013E953	0	getma.org/pdb.php?prot=RB40A_HUMAN&from=16&to=176&var=P42Q	ENST00000304236		ENSG00000172476	18283		31	0.125		HGNC	p.P42Q		RAB40A		SNV							ENST00000304236	protein_coding	getma.org/?cm=var&var=hg19,X,102755560,G,T&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF442,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,Superfamily_domains:SSF52540		P/Q		T	neutral	467/1345		getma.org/?cm=msa&ty=f&p=RB40A_HUMAN&rb=16&re=176&var=P42Q	deleterious(0.01)					RAB40A,missense_variant,p.Pro42Gln,ENST00000372633,;RAB40A,missense_variant,p.Pro42Gln,ENST00000304236,NM_080879.2;LL0XNC01-250H12.3,downstream_gene_variant,,ENST00000445990,;							MODERATE	125/834	P42Q	RB40A_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000305648		CCDS35357.1			1	
EEF2K	0	LGGM	GRCh37	16	22262558	22262558	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	4	.	.	ENST00000263026.5:c.533G>T	p.Arg178Leu	p.R178L	ENST00000263026	NM_013302.3	178	cGg/cTg	0	1	1	UPI000013D387	0	getma.org/pdb.php?prot=EF2K_HUMAN&from=138&to=318&var=R178L	ENST00000263026		ENSG00000103319	24615		43	1.91		HGNC	p.R178L		EEF2K		SNV							ENST00000568269	protein_coding	getma.org/?cm=var&var=hg19,16,22262558,G,T&fts=all		Pfam_domain:PF02816,PIRSF_domain:PIRSF038139,PROSITE_profiles:PS51158,hmmpanther:PTHR14187,SMART_domains:SM00811,Superfamily_domains:SSF56112		R/L		T	medium	1007/5289		getma.org/?cm=msa&ty=f&p=EF2K_HUMAN&rb=138&re=318&var=R178L	deleterious(0)				YES	EEF2K,missense_variant,p.Arg178Leu,ENST00000263026,NM_013302.3;EEF2K,missense_variant,p.Arg178Leu,ENST00000568269,;							MODERATE	533/2178	R178L	EF2K_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000263026		CCDS10604.1			1	
PTPN14	0	LGGM	GRCh37	1	214546169	214546169	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	4	.	.	ENST00000366956.5:c.2921G>T	p.Gly974Val	p.G974V	ENST00000366956	NM_005401.4	974	gGg/gTg	0	1	1	UPI000013DCA6	0	getma.org/pdb.php?prot=PTN14_HUMAN&from=933&to=1179&var=G974V	ENST00000366956		ENSG00000152104	9647		46	2.95		HGNC	p.G974V		PTPN14		SNV			1				ENST00000366956	protein_coding	getma.org/?cm=var&var=hg19,1,214546169,C,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000934,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,SMART_domains:SM00194,Superfamily_domains:SSF52799		G/V		A	medium	3116/12985		getma.org/?cm=msa&ty=f&p=PTN14_HUMAN&rb=933&re=1179&var=G974V	deleterious(0)				YES	PTPN14,missense_variant,p.Gly974Val,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;PTPN14,non_coding_transcript_exon_variant,,ENST00000473261,;							MODERATE	2921/3564	G974V	PTN14_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355923		CCDS1514.1			1	
AP2M1	0	LGGM	GRCh37	3	183900544	183900544	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	92	5	.	.	ENST00000292807.5:c.1062-1G>T		p.X354_splice	ENST00000292807	NM_004068.3			0	1	1	UPI0000000DD8	0		ENST00000292807		ENSG00000161203	564		97			HGNC	-		AP2M1		SNV							ENST00000382456	protein_coding							T		-/1931				C9JJD3_HUMAN			YES	AP2M1,splice_acceptor_variant,,ENST00000382456,NM_001025205.1;AP2M1,splice_acceptor_variant,,ENST00000439647,;AP2M1,splice_acceptor_variant,,ENST00000292807,NM_004068.3;AP2M1,splice_acceptor_variant,,ENST00000411763,;AP2M1,splice_acceptor_variant,,ENST00000442686,;EIF2B5,intron_variant,,ENST00000444495,;ABCF3,upstream_gene_variant,,ENST00000429586,NM_018358.2;ABCF3,upstream_gene_variant,,ENST00000292808,;AP2M1,downstream_gene_variant,,ENST00000432591,;AP2M1,downstream_gene_variant,,ENST00000431779,;AP2M1,downstream_gene_variant,,ENST00000448139,;AP2M1,downstream_gene_variant,,ENST00000427072,;AP2M1,downstream_gene_variant,,ENST00000455925,;AP2M1,splice_acceptor_variant,,ENST00000461733,;AP2M1,downstream_gene_variant,,ENST00000460862,;ABCF3,upstream_gene_variant,,ENST00000473311,;AP2M1,downstream_gene_variant,,ENST00000468048,;ABCF3,upstream_gene_variant,,ENST00000498136,;AP2M1,downstream_gene_variant,,ENST00000472560,;ABCF3,upstream_gene_variant,,ENST00000485921,;AP2M1,downstream_gene_variant,,ENST00000487958,;ABCF3,upstream_gene_variant,,ENST00000478288,;ABCF3,upstream_gene_variant,,ENST00000421340,;AP2M1,downstream_gene_variant,,ENST00000466598,;ABCF3,upstream_gene_variant,,ENST00000463685,;AP2M1,downstream_gene_variant,,ENST00000480260,;AP2M1,downstream_gene_variant,,ENST00000463935,;AP2M1,downstream_gene_variant,,ENST00000490151,;ABCF3,upstream_gene_variant,,ENST00000481116,;AP2M1,downstream_gene_variant,,ENST00000484469,;ABCF3,upstream_gene_variant,,ENST00000466416,;AP2M1,downstream_gene_variant,,ENST00000476434,;							HIGH	1062/1308		AP2M1_HUMAN			Transcript			.	ENSP00000292807		CCDS43177.1			1	
CHD8	0	LGGM	GRCh37	14	21854336	21854336	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	5	.	.	ENST00000399982.2:c.7183-1G>T		p.X2395_splice	ENST00000399982	NM_001170629.1			0	1	1	UPI00002375B9	0		ENST00000399982		ENSG00000100888	20153		41			HGNC	-		CHD8		SNV			1				ENST00000430710	protein_coding							A		-/8229							YES	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,,ENST00000553870,;SUPT16H,upstream_gene_variant,,ENST00000216297,NM_007192.3;SUPT16H,upstream_gene_variant,,ENST00000555943,;RP11-524O1.4,downstream_gene_variant,,ENST00000565098,;CHD8,non_coding_transcript_exon_variant,,ENST00000557727,;SUPT16H,upstream_gene_variant,,ENST00000556217,;SUPT16H,upstream_gene_variant,,ENST00000555752,;SUPT16H,upstream_gene_variant,,ENST00000557652,;SUPT16H,upstream_gene_variant,,ENST00000556309,;							HIGH	7183/7746		CHD8_HUMAN			Transcript			.	ENSP00000382863		CCDS53885.1			1	
SACS	0	LGGM	GRCh37	13	23912515	23912515	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	54	5	.	.	ENST00000382298.3:c.5500C>A	p.Leu1834Met	p.L1834M	ENST00000382298	NM_014363.5	1834	Ctg/Atg	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		59	2.125		HGNC	p.L1834M	COSM3384772,COSM3384771	SACS		SNV			1			1,1	ENST00000382292	protein_coding	getma.org/?cm=var&var=hg19,13,23912515,G,T&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		L/M		T	medium	5774/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=1682&re=1881&var=L1834M						SACS,missense_variant,p.Leu1834Met,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Leu1834Met,ENST00000382292,;SACS,missense_variant,p.Leu1084Met,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;					1,1		MODERATE	5500/13740	L1834M	SACS_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000371729		CCDS9300.2			1	
MALRD1	0	LGGM	GRCh37	10	19820126	19820126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	5	.	.	ENST00000377266.3:c.3461G>A	p.Ser1154Asn	p.S1154N	ENST00000377266		1154	aGt/aAt	0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		15			HGNC	p.S1154N	rs746849684	MALRD1	0.000287	SNV							ENST00000377266	protein_coding			Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,SMART_domains:SM00137,Superfamily_domains:SSF49899		S/N		A		3422/4661			tolerated(0.26)					MALRD1,missense_variant,p.Ser1141Asn,ENST00000454679,;MALRD1,missense_variant,p.Ser1154Asn,ENST00000377266,;MALRD1,missense_variant,p.Ser126Asn,ENST00000377265,;MALRD1,5_prime_UTR_variant,,ENST00000455457,;MALRD1,non_coding_transcript_exon_variant,,ENST00000492202,;							MODERATE	3422/4422		CJ112_HUMAN			Transcript		benign(0.055)	.	ENSP00000412763	0.000103				1	
ARID1B	0	LGGM	GRCh37	6	157528914	157528914	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	66	5	.	.	ENST00000346085.5:c.6639G>T	p.Ser2213=	p.S2213=	ENST00000346085	NM_020732.3	2213	tcG/tcT	0	1		UPI000058E2EA	0		ENST00000350026		ENSG00000049618	18040		71			HGNC	p.S2213S		ARID1B		SNV			1				ENST00000346085	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF11		S		T		6601/7971								ARID1B,synonymous_variant,p.=,ENST00000346085,NM_020732.3;ARID1B,synonymous_variant,p.=,ENST00000367148,;ARID1B,synonymous_variant,p.=,ENST00000275248,;ARID1B,synonymous_variant,p.=,ENST00000350026,NM_017519.2;ARID1B,synonymous_variant,p.=,ENST00000414678,;							LOW	6600/6711		ARI1B_HUMAN			Transcript			.	ENSP00000055163		CCDS5251.2			1	
ZSCAN29	0	LGGM	GRCh37	15	43653938	43653938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000396976.2:c.1892C>A	p.Pro631Gln	p.P631Q	ENST00000396976	NM_152455.3	631	cCg/cAg	0	1	1	UPI0000DA5AF5	0	NA	ENST00000396976		ENSG00000140265	26673		56	0.885		HGNC	p.P242Q		ZSCAN29		SNV							ENST00000396972	protein_coding	getma.org/?cm=var&var=hg19,15,43653938,G,T&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209		P/Q		T	low	2027/5595		getma.org/?cm=msa&ty=f&p=ZSC29_HUMAN&rb=494&re=663&var=P631Q	tolerated(0.9)	Q96AG1_HUMAN,H3BVH1_HUMAN			YES	ZSCAN29,missense_variant,p.Pro631Gln,ENST00000396976,NM_152455.3;ZSCAN29,missense_variant,p.Pro242Gln,ENST00000396972,;ZSCAN29,missense_variant,p.Pro241Gln,ENST00000568898,;ZSCAN29,3_prime_UTR_variant,,ENST00000562072,;ZSCAN29,downstream_gene_variant,,ENST00000570181,;ZSCAN29,3_prime_UTR_variant,,ENST00000566849,;							MODERATE	1892/2559	P631Q	ZSC29_HUMAN			Transcript		benign(0.401)	.	ENSP00000380174		CCDS10095.2			1	
CCT4	0	LGGM	GRCh37	2	62099250	62099250	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	59	5	.	.	ENST00000394440.3:c.1458G>T	p.Gln486His	p.Q486H	ENST00000394440	NM_006430.3	486	caG/caT	0	1	1	UPI00000362DF	0	getma.org/pdb.php?prot=TCPD_HUMAN&from=44&to=539&var=Q486H	ENST00000394440		ENSG00000115484	1617		64	2.535		HGNC	p.Q430H	rs771635404	CCT4		SNV							ENST00000538252	protein_coding	getma.org/?cm=var&var=hg19,2,62099250,C,A&fts=all		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02342		Q/H		A	medium	1755/2520	1.50E-05	getma.org/?cm=msa&ty=f&p=TCPD_HUMAN&rb=44&re=539&var=Q486H	tolerated(0.1)	B7Z9L0_HUMAN,B7Z2F4_HUMAN			YES	CCT4,missense_variant,p.Gln486His,ENST00000394440,NM_006430.3;CCT4,missense_variant,p.Gln430His,ENST00000538252,;CCT4,missense_variant,p.Gln456His,ENST00000544079,NM_001256721.1;CCT4,missense_variant,p.Gln336His,ENST00000544185,;AC107081.5,intron_variant,,ENST00000425779,;CCT4,intron_variant,,ENST00000461540,;							MODERATE	1458/1620	Q486H	TCPD_HUMAN			Transcript		benign(0.066)	.	ENSP00000377958	8.24E-06	CCDS33206.1			1	
ITPR1	0	LGGM	GRCh37	3	4722318	4722318	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	71	5	.	.	ENST00000302640.8:c.3004C>A	p.Gln1002Lys	p.Q1002K	ENST00000302640	NM_001168272.1	1002	Cag/Aag	0	1		UPI00015E0852	0	NA	ENST00000354582		ENSG00000150995	6180		76	0.205		HGNC	p.Q1002K		ITPR1		SNV			1				ENST00000443694	protein_coding	getma.org/?cm=var&var=hg19,3,4722318,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF52		Q/K		A	neutral	3399/10197		getma.org/?cm=msa&ty=f&p=ITPR1_HUMAN&rb=878&re=1077&var=Q1017K	tolerated(0.94)	E7EVP7_HUMAN				ITPR1,missense_variant,p.Gln1017Lys,ENST00000354582,;ITPR1,missense_variant,p.Gln1002Lys,ENST00000302640,NM_001168272.1;ITPR1,missense_variant,p.Gln1008Lys,ENST00000423119,NM_001099952.2;ITPR1,missense_variant,p.Gln1008Lys,ENST00000357086,;ITPR1,missense_variant,p.Gln993Lys,ENST00000456211,NM_002222.5;ITPR1,missense_variant,p.Gln1002Lys,ENST00000443694,;ITPR1,intron_variant,,ENST00000544951,;							MODERATE	3049/8232	Q1017K				Transcript		benign(0.002)	.	ENSP00000346595					1	
PFKM	0	LGGM	GRCh37	12	48527145	48527145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	5	.	.	ENST00000340802.6:c.688G>T	p.Val230Leu	p.V230L	ENST00000340802	NM_001166686.1	230	Gtg/Ttg	0	1		UPI0000000CCC	0	getma.org/pdb.php?prot=K6PF_HUMAN&from=16&to=326&var=V159L	ENST00000312352		ENSG00000152556	8877		39	3.44		HGNC	p.V159L		PFKM		SNV			1				ENST00000395233	protein_coding	getma.org/?cm=var&var=hg19,12,48527145,G,T&fts=all		Gene3D:3.40.50.450,HAMAP:MF_00339,Pfam_domain:PF00365,PIRSF_domain:PIRSF000533,Prints_domain:PR00476,hmmpanther:PTHR13697,hmmpanther:PTHR13697:SF13,Superfamily_domains:SSF53784,TIGRFAM_domain:TIGR02478		V/L		T	medium	514/3078		getma.org/?cm=msa&ty=f&p=K6PF_HUMAN&rb=16&re=326&var=V159L	deleterious(0)	Q7KYX9_HUMAN,P78457_HUMAN,F8W1J8_HUMAN,F8VZQ1_HUMAN,F8VW30_HUMAN,F8VSL1_HUMAN,F8VNX2_HUMAN				PFKM,missense_variant,p.Val230Leu,ENST00000340802,NM_001166686.1;PFKM,missense_variant,p.Val159Leu,ENST00000312352,NM_001166687.1;PFKM,missense_variant,p.Val159Leu,ENST00000359794,NM_000289.5;PFKM,missense_variant,p.Val159Leu,ENST00000547587,NM_001166688.1;PFKM,missense_variant,p.Val159Leu,ENST00000551804,;PFKM,missense_variant,p.Val159Leu,ENST00000395233,;PFKM,missense_variant,p.Val159Leu,ENST00000549022,;PFKM,intron_variant,,ENST00000546465,;PFKM,intron_variant,,ENST00000548345,;PFKM,downstream_gene_variant,,ENST00000550345,;PFKM,downstream_gene_variant,,ENST00000552792,;PFKM,downstream_gene_variant,,ENST00000549941,;PFKM,downstream_gene_variant,,ENST00000549003,;PFKM,downstream_gene_variant,,ENST00000548288,;PFKM,downstream_gene_variant,,ENST00000550257,;PFKM,downstream_gene_variant,,ENST00000549366,;PFKM,downstream_gene_variant,,ENST00000551339,;PFKM,downstream_gene_variant,,ENST00000550924,;PFKM,downstream_gene_variant,,ENST00000551548,;PFKM,3_prime_UTR_variant,,ENST00000547581,;PFKM,non_coding_transcript_exon_variant,,ENST00000546964,;PFKM,intron_variant,,ENST00000552989,;PFKM,upstream_gene_variant,,ENST00000552752,;PFKM,upstream_gene_variant,,ENST00000547148,;PFKM,downstream_gene_variant,,ENST00000551485,;PFKM,downstream_gene_variant,,ENST00000548720,;PFKM,downstream_gene_variant,,ENST00000547066,;							MODERATE	475/2343	V159L	K6PF_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000309438		CCDS8760.1			1	
SERHL2	0	LGGM	GRCh37	22	42970053	42970053	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000327678.5:c.937C>A	p.Gln313Lys	p.Q313K	ENST00000327678	NM_014509.3	313	Cag/Aag	0	1	1	UPI0000135810	0	NA	ENST00000327678		ENSG00000183569	29446		56	0.295		HGNC	p.Q313K		SERHL2		SNV							ENST00000327678	protein_coding	getma.org/?cm=var&var=hg19,22,42970053,C,A&fts=all				Q/K		A	neutral	1039/1374		getma.org/?cm=msa&ty=f&p=SEHL2_HUMAN&rb=270&re=314&var=Q313K	tolerated(0.09)	E9PMQ2_HUMAN			YES	SERHL2,missense_variant,p.Gln313Lys,ENST00000327678,NM_014509.3;SERHL2,missense_variant,p.Gln249Lys,ENST00000335879,NM_001284334.1;SERHL2,missense_variant,p.Gln133Lys,ENST00000407614,;SERHL2,3_prime_UTR_variant,,ENST00000340239,;RNU6-513P,upstream_gene_variant,,ENST00000516104,;RRP7B,non_coding_transcript_exon_variant,,ENST00000458605,;RRP7B,intron_variant,,ENST00000357802,;RRP7B,intron_variant,,ENST00000437211,;RRP7B,downstream_gene_variant,,ENST00000421116,;SERHL2,3_prime_UTR_variant,,ENST00000477564,;SERHL2,non_coding_transcript_exon_variant,,ENST00000527167,;SERHL2,downstream_gene_variant,,ENST00000416156,;SERHL2,downstream_gene_variant,,ENST00000534080,;RRP7B,downstream_gene_variant,,ENST00000566851,;							MODERATE	937/945	Q313K	SEHL2_HUMAN			Transcript		benign(0.009)	.	ENSP00000331376		CCDS14037.1			1	
LDB2	0	LGGM	GRCh37	4	16504349	16504349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	5	.	.	ENST00000304523.5:c.1039G>T	p.Gly347Trp	p.G347W	ENST00000304523	NM_001290.3	347	Ggg/Tgg	0	1	1	UPI0000073D86	0	NA	ENST00000304523		ENSG00000169744	6533		38	2.175		HGNC	p.G345W		LDB2		SNV							ENST00000515064	protein_coding	getma.org/?cm=var&var=hg19,4,16504349,C,A&fts=all		hmmpanther:PTHR10378,hmmpanther:PTHR10378:SF8		G/W		A	medium	1363/2548		getma.org/?cm=msa&ty=f&p=LDB2_HUMAN&rb=234&re=373&var=G347W	deleterious(0)	Q4W5E7_HUMAN,D6RAT1_HUMAN			YES	LDB2,missense_variant,p.Gly347Trp,ENST00000304523,NM_001290.3;LDB2,missense_variant,p.Gly345Trp,ENST00000515064,;LDB2,missense_variant,p.Gly268Trp,ENST00000507464,;LDB2,3_prime_UTR_variant,,ENST00000502640,;LDB2,3_prime_UTR_variant,,ENST00000441778,NM_001130834.1;LDB2,downstream_gene_variant,,ENST00000503178,;RP11-446J8.1,intron_variant,,ENST00000512370,;LDB2,non_coding_transcript_exon_variant,,ENST00000509803,;LDB2,downstream_gene_variant,,ENST00000508918,;							MODERATE	1039/1122	G347W	LDB2_HUMAN			Transcript		possibly_damaging(0.664)	.	ENSP00000306772		CCDS3420.1			1	
KCTD21	0	LGGM	GRCh37	11	77885007	77885007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	62	5	.	.	ENST00000340067.3:c.594G>T	p.Glu198Asp	p.E198D	ENST00000340067	NM_001029859.1	198	gaG/gaT	0	1	1	UPI000016193F	0	NA	ENST00000340067		ENSG00000188997	27452		67	0.345		HGNC	p.E198D		KCTD21		SNV							ENST00000340067	protein_coding	getma.org/?cm=var&var=hg19,11,77885007,C,A&fts=all		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF57		E/D		A	neutral	873/3585		getma.org/?cm=msa&ty=f&p=KCD21_HUMAN&rb=121&re=241&var=E198D	tolerated(0.54)	E9PRT1_HUMAN,E9PMS5_HUMAN,E9PM10_HUMAN,E9PK99_HUMAN,E9PJJ5_HUMAN			YES	KCTD21,missense_variant,p.Glu198Asp,ENST00000340067,NM_001029859.1;KCTD21,downstream_gene_variant,,ENST00000526208,;KCTD21,downstream_gene_variant,,ENST00000530018,;KCTD21,downstream_gene_variant,,ENST00000529350,;KCTD21,downstream_gene_variant,,ENST00000528776,;KCTD21,downstream_gene_variant,,ENST00000525447,;KCTD21-AS1,non_coding_transcript_exon_variant,,ENST00000600795,;KCTD21-AS1,non_coding_transcript_exon_variant,,ENST00000523626,;KCTD21-AS1,downstream_gene_variant,,ENST00000530261,;KCTD21-AS1,downstream_gene_variant,,ENST00000528468,;							MODERATE	594/783	E198D	KCD21_HUMAN			Transcript		benign(0.002)	.	ENSP00000339340		CCDS31645.1			1	
VWF	0	LGGM	GRCh37	12	6219727	6219727	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	55	5	.	.	ENST00000261405.5:c.345C>A	p.Ser115=	p.S115=	ENST00000261405	NM_000552.3	115	tcC/tcA	0	1	1	UPI00001AE7EE	0		ENST00000261405		ENSG00000110799	12726		60			HGNC	p.S115S		VWF		SNV			1				ENST00000261405	protein_coding			Pfam_domain:PF00094,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00216		S		T		600/8838				H2DLA2_HUMAN			YES	VWF,synonymous_variant,p.=,ENST00000261405,NM_000552.3;VWF,synonymous_variant,p.=,ENST00000572068,;VWF,non_coding_transcript_exon_variant,,ENST00000538635,;VWF,3_prime_UTR_variant,,ENST00000321023,;							LOW	345/8442		VWF_HUMAN			Transcript			.	ENSP00000261405		CCDS8539.1			1	
ZNF678	0	LGGM	GRCh37	1	227842946	227842946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	5	.	.	ENST00000343776.5:c.995G>T	p.Arg332Leu	p.R332L	ENST00000343776	NM_178549.3	332	cGg/cTg	0	1	1	UPI000019862A	0	getma.org/pdb.php?prot=ZN678_HUMAN&from=307&to=332&var=R332L	ENST00000343776		ENSG00000181450	28652		90	0.975		HGNC	p.R387L		ZNF678		SNV							ENST00000397097	protein_coding	getma.org/?cm=var&var=hg19,1,227842946,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/L		T	low	1340/8556		getma.org/?cm=msa&ty=f&p=ZN678_HUMAN&rb=287&re=352&var=R332L	tolerated(0.37)				YES	ZNF678,missense_variant,p.Arg332Leu,ENST00000343776,NM_178549.3;ZNF678,missense_variant,p.Arg387Leu,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,;ZNF678,downstream_gene_variant,,ENST00000465266,;							MODERATE	995/1578	R332L	ZN678_HUMAN			Transcript		benign(0.011)	.	ENSP00000344828					1	
FLG2	0	LGGM	GRCh37	1	152329785	152329785	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	84	5	.	.	ENST00000388718.5:c.477C>A	p.Ser159=	p.S159=	ENST00000388718	NM_001014342.2	159	tcC/tcA	0	1	1	UPI00004E1DE5	0		ENST00000388718		ENSG00000143520	33276		89			HGNC	p.S159S		FLG2		SNV							ENST00000388718	protein_coding			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		S		T		550/9124							YES	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							LOW	477/7176		FILA2_HUMAN			Transcript			.	ENSP00000373370		CCDS30861.1			1	
ATP7A	0	LGGM	GRCh37	X	77275741	77275741	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	5	.	.	ENST00000341514.6:c.2627G>T	p.Gly876Val	p.G876V	ENST00000341514	NM_000052.5	876	gGg/gTg	0	1	1	UPI000013E478	0	getma.org/pdb.php?prot=ATP7A_HUMAN&from=786&to=1034&var=G876V	ENST00000341514		ENSG00000165240	869		50	4.425		HGNC	p.G876V		ATP7A		SNV			1				ENST00000341514	protein_coding	getma.org/?cm=var&var=hg19,X,77275741,G,T&fts=all		Prints_domain:PR00119,Superfamily_domains:0049471,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01525,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF211		G/V		T	high	2782/8483		getma.org/?cm=msa&ty=f&p=ATP7A_HUMAN&rb=786&re=1034&var=G876V	deleterious(0.01)				YES	ATP7A,missense_variant,p.Gly876Val,ENST00000341514,NM_000052.5;ATP7A,missense_variant,p.Gly798Val,ENST00000343533,;ATP7A,intron_variant,,ENST00000350425,;							MODERATE	2627/4503	G876V	ATP7A_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000345728		CCDS35339.1			1	
HMGCL	0	LGGM	GRCh37	1	24129006	24129006	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	5	.	.	ENST00000374490.3:c.925G>T	p.Ala309Ser	p.A309S	ENST00000374490	NM_000191.2	309	Gcc/Tcc	0	1	1	UPI000012CA36	0	getma.org/pdb.php?prot=HMGCL_HUMAN&from=290&to=325&var=A309S	ENST00000374490		ENSG00000117305	5005		49	1.905		HGNC	p.A238S		HMGCL		SNV			1				ENST00000436439	protein_coding	getma.org/?cm=var&var=hg19,1,24129006,C,A&fts=all		Gene3D:3.20.20.70,hmmpanther:PTHR10277,hmmpanther:PTHR10277:SF35,Superfamily_domains:SSF51569		A/S		A	medium	969/1600		getma.org/?cm=msa&ty=f&p=HMGCL_HUMAN&rb=290&re=325&var=A309S	tolerated(0.18)	B1AK13_HUMAN			YES	HMGCL,missense_variant,p.Ala284Ser,ENST00000374483,;HMGCL,missense_variant,p.Ala309Ser,ENST00000374490,NM_000191.2;HMGCL,missense_variant,p.Ala238Ser,ENST00000436439,NM_001166059.1;HMGCL,missense_variant,p.Ala166Ser,ENST00000235958,;GALE,upstream_gene_variant,,ENST00000374497,NM_001008216.1,NM_001127621.1,NM_000403.3;GALE,upstream_gene_variant,,ENST00000429356,;GALE,upstream_gene_variant,,ENST00000418277,;GALE,upstream_gene_variant,,ENST00000425913,;GALE,upstream_gene_variant,,ENST00000445705,;GALE,upstream_gene_variant,,ENST00000470383,;GALE,upstream_gene_variant,,ENST00000481736,;GALE,upstream_gene_variant,,ENST00000459934,;HMGCL,downstream_gene_variant,,ENST00000509389,;GALE,upstream_gene_variant,,ENST00000467493,;HMGCL,downstream_gene_variant,,ENST00000496907,;GALE,upstream_gene_variant,,ENST00000466250,;GALE,upstream_gene_variant,,ENST00000467070,;GALE,upstream_gene_variant,,ENST00000470949,;GALE,upstream_gene_variant,,ENST00000486382,;HMGCL,3_prime_UTR_variant,,ENST00000374487,;							MODERATE	925/978	A309S	HMGCL_HUMAN			Transcript		benign(0.006)	.	ENSP00000363614		CCDS243.1			1	
WHSC1L1	0	LGGM	GRCh37	8	38186931	38186931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	5	.	.	ENST00000317025.8:c.1546G>T	p.Gly516Trp	p.G516W	ENST00000317025	NM_023034.1	516	Ggg/Tgg	0	1	1	UPI000006F297	0	NA	ENST00000317025		ENSG00000147548	12767		41	1.39		HGNC	p.G516W		WHSC1L1		SNV							ENST00000316985	protein_coding	getma.org/?cm=var&var=hg19,8,38186931,C,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF301		G/W		A	low	2064/10776		getma.org/?cm=msa&ty=f&p=NSD3_HUMAN&rb=347&re=546&var=G516W	deleterious(0)	E9PQ95_HUMAN,E9PKA2_HUMAN			YES	WHSC1L1,missense_variant,p.Gly516Trp,ENST00000317025,NM_023034.1;WHSC1L1,missense_variant,p.Gly516Trp,ENST00000433384,;WHSC1L1,missense_variant,p.Gly516Trp,ENST00000527502,;WHSC1L1,missense_variant,p.Gly516Trp,ENST00000316985,NM_017778.2;WHSC1L1,upstream_gene_variant,,ENST00000528627,;							MODERATE	1546/4314	G516W	NSD3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000313983		CCDS43729.1			1	
OR10G4	0	LGGM	GRCh37	11	123887121	123887121	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	5	.	.	ENST00000320891.4:c.840C>A	p.Pro280=	p.P280=	ENST00000320891	NM_001004462.1	280	ccC/ccA	0	1	1	UPI0000041BAD	0		ENST00000320891		ENSG00000254737	14809		46			HGNC	p.P280P		OR10G4		SNV							ENST00000320891	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245		P		A		840/936							YES	OR10G4,synonymous_variant,p.=,ENST00000320891,NM_001004462.1;							LOW	840/936		O10G4_HUMAN			Transcript			.	ENSP00000325076		CCDS31702.1			1	
GUCY1A2	0	LGGM	GRCh37	11	106681121	106681121	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	5	.	.	ENST00000282249.2:c.1290G>T	p.Leu430Phe	p.L430F	ENST00000282249	NM_001256424.1	430	ttG/ttT	0	1		UPI0000128C17	0	getma.org/pdb.php?prot=GCYA2_HUMAN&from=311&to=506&var=L430F	ENST00000526355		ENSG00000152402	4684		34	3.2		HGNC	p.L430F	COSM336353	GUCY1A2		SNV						1	ENST00000526355	protein_coding	getma.org/?cm=var&var=hg19,11,106681121,C,A&fts=all		Pfam_domain:PF07701,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276		L/F		A	medium	1759/16205		getma.org/?cm=msa&ty=f&p=GCYA2_HUMAN&rb=311&re=506&var=L430F	deleterious(0)					GUCY1A2,missense_variant,p.Leu430Phe,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.Leu430Phe,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.Leu451Phe,ENST00000347596,;					1		MODERATE	1290/2199	L430F	GCYA2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000431245		CCDS8335.1			1	
ZNF341	0	LGGM	GRCh37	20	32332932	32332932	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	5	.	.	ENST00000342427.2:c.166G>T	p.Gly56Trp	p.G56W	ENST00000342427	NM_032819.3	56	Ggg/Tgg	0	1		UPI0000470A07	0	NA	ENST00000375200		ENSG00000131061	15992		43	1.1		HGNC	p.G56W		ZNF341		SNV							ENST00000483118	protein_coding	getma.org/?cm=var&var=hg19,20,32332932,G,T&fts=all		Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,SMART_domains:SM00355		G/W		T	low	531/3682		getma.org/?cm=msa&ty=f&p=ZN341_HUMAN&rb=32&re=98&var=G56W	deleterious(0)					ZNF341,missense_variant,p.Gly56Trp,ENST00000375200,NM_001282933.1;ZNF341,missense_variant,p.Gly56Trp,ENST00000342427,NM_032819.3;ZNF341,missense_variant,p.Gly56Trp,ENST00000483118,;ZNF341,intron_variant,,ENST00000497876,NM_001282935.1;							MODERATE	166/2565	G56W	ZN341_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364346					1	
FAT1	0	LGGM	GRCh37	4	187541970	187541970	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	52	5	.	.	ENST00000441802.2:c.5770G>T	p.Gly1924Trp	p.G1924W	ENST00000441802	NM_005245.3	1924	Ggg/Tgg	0	1	1	UPI000051946B	0	NA	ENST00000441802		ENSG00000083857	3595		57	3.06		HGNC	p.G1924W		FAT1		SNV							ENST00000441802	protein_coding	getma.org/?cm=var&var=hg19,4,187541970,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/W		A	medium	5980/14786		getma.org/?cm=msa&ty=f&p=FAT1_HUMAN&rb=1891&re=1970&var=G1924W		D6RCE4_HUMAN			YES	FAT1,missense_variant,p.Gly1924Trp,ENST00000441802,NM_005245.3;							MODERATE	5770/13767	G1924W	FAT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000406229		CCDS47177.1			1	
DNMT3B	0	LGGM	GRCh37	20	31384674	31384674	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	72	5	.	.	ENST00000328111.2:c.1376G>T	p.Arg459Leu	p.R459L	ENST00000328111	NM_006892.3	459	cGg/cTg	0	1	1	UPI0000001046	0	getma.org/pdb.php?prot=DNM3B_HUMAN&from=423&to=555&var=R459L	ENST00000328111		ENSG00000088305	2979		77	1.39		HGNC	p.R363L		DNMT3B		SNV			1				ENST00000456297	protein_coding	getma.org/?cm=var&var=hg19,20,31384674,G,T&fts=all		PROSITE_profiles:PS51533,hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068		R/L		T	low	1697/4336		getma.org/?cm=msa&ty=f&p=DNM3B_HUMAN&rb=423&re=555&var=R459L	deleterious(0)				YES	DNMT3B,missense_variant,p.Arg459Leu,ENST00000328111,NM_006892.3;DNMT3B,missense_variant,p.Arg451Leu,ENST00000201963,NM_175850.2;DNMT3B,missense_variant,p.Arg439Leu,ENST00000353855,NM_175848.1;DNMT3B,missense_variant,p.Arg439Leu,ENST00000348286,NM_175849.1,NM_001207055.1;DNMT3B,missense_variant,p.Arg439Leu,ENST00000344505,;DNMT3B,missense_variant,p.Arg397Leu,ENST00000443239,;DNMT3B,missense_variant,p.Arg363Leu,ENST00000456297,NM_001207056.1;DNMT3B,splice_region_variant,,ENST00000375623,;							MODERATE	1376/2562	R459L	DNM3B_HUMAN			Transcript		benign(0.106)	.	ENSP00000328547		CCDS13205.1			1	
TAOK2	0	LGGM	GRCh37	16	29998071	29998071	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	47	5	.	.	ENST00000308893.4:c.2478C>A	p.Pro826=	p.P826=	ENST00000308893	NM_016151.3	826	ccC/ccA	0	1	1	UPI000013EDDA	0		ENST00000308893		ENSG00000149930	16835		52			HGNC	p.P653P		TAOK2		SNV							ENST00000416441	protein_coding					P		A		3521/5169							YES	TAOK2,synonymous_variant,p.=,ENST00000308893,NM_016151.3,NM_001252043.1;TAOK2,synonymous_variant,p.=,ENST00000416441,;TAOK2,intron_variant,,ENST00000279394,NM_004783.3;TAOK2,intron_variant,,ENST00000543033,;TAOK2,non_coding_transcript_exon_variant,,ENST00000566552,;TAOK2,upstream_gene_variant,,ENST00000570844,;							LOW	2478/3708		TAOK2_HUMAN			Transcript			.	ENSP00000310094		CCDS10663.1			1	
TMEM92	0	LGGM	GRCh37	17	48356576	48356576	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	5	.	.	ENST00000300433.3:c.387G>T	p.Leu129=	p.L129=	ENST00000300433	NM_001168215.1	129	ctG/ctT	0	1	1	UPI000013E65C	0		ENST00000300433		ENSG00000167105	26579		95			HGNC	p.L129L	rs370051317	TMEM92		SNV	T:0						ENST00000507382	protein_coding			hmmpanther:PTHR31359		L	T:0.0001	T		497/2765	1.50E-05						YES	TMEM92,synonymous_variant,p.=,ENST00000300433,NM_001168215.1;TMEM92,synonymous_variant,p.=,ENST00000507382,NM_153229.2;RP11-893F2.9,downstream_gene_variant,,ENST00000508851,;TMEM92,downstream_gene_variant,,ENST00000511882,;							LOW	387/480		TMM92_HUMAN			Transcript			.	ENSP00000300433	8.24E-06	CCDS11562.1			1	
PLCH1	0	LGGM	GRCh37	3	155200652	155200652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000340059.7:c.3187G>T	p.Gly1063Cys	p.G1063C	ENST00000340059	NM_001130960.1	1063	Ggt/Tgt	0	1	1	UPI00001D800E	0	NA	ENST00000340059		ENSG00000114805	29185		56	0.975		HGNC	p.G1025C		PLCH1		SNV							ENST00000334686	protein_coding	getma.org/?cm=var&var=hg19,3,155200652,C,A&fts=all				G/C		A	low	3187/6168		getma.org/?cm=msa&ty=f&p=PLCH1_HUMAN&rb=1027&re=1226&var=G1063C	tolerated_low_confidence(0.06)				YES	PLCH1,missense_variant,p.Gly1025Cys,ENST00000460012,;PLCH1,missense_variant,p.Gly1025Cys,ENST00000414191,;PLCH1,missense_variant,p.Gly1063Cys,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Gly1025Cys,ENST00000334686,NM_014996.2;PLCH1,3_prime_UTR_variant,,ENST00000447496,NM_001130961.1;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;							MODERATE	3187/5082	G1063C	PLCH1_HUMAN			Transcript		benign(0.013)	.	ENSP00000345988		CCDS46939.1			1	
ENPP3	0	LGGM	GRCh37	6	132054784	132054784	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	5	.	.	ENST00000414305.1:c.2010G>T	p.Arg670Ser	p.R670S	ENST00000414305		670	agG/agT	0	1		UPI000013DD9F	0	getma.org/pdb.php?prot=ENPP3_HUMAN&from=626&to=856&var=R670S	ENST00000357639		ENSG00000154269	3358		46	2.705		HGNC	p.R670S		ENPP3		SNV							ENST00000414305	protein_coding	getma.org/?cm=var&var=hg19,6,132054784,G,T&fts=all		Gene3D:1g8tA00,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF55,SMART_domains:SM00477,SMART_domains:SM00892,Superfamily_domains:SSF54060		R/S		T	medium	2093/3154		getma.org/?cm=msa&ty=f&p=ENPP3_HUMAN&rb=626&re=856&var=R670S	deleterious(0.01)	Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN				ENPP3,missense_variant,p.Arg670Ser,ENST00000414305,;ENPP3,missense_variant,p.Arg670Ser,ENST00000357639,NM_005021.3;ENPP3,intron_variant,,ENST00000358229,;							MODERATE	2010/2628	R670S	ENPP3_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000350265		CCDS5148.1			1	
MYO16	0	LGGM	GRCh37	13	109475609	109475609	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	108	5	.	.	ENST00000356711.2:c.1014C>A	p.Pro338=	p.P338=	ENST00000356711	NM_015011.1	338	ccC/ccA	0	1	1	UPI0000160FF2	0		ENST00000356711		ENSG00000041515	29822		113			HGNC	p.P338P	COSM550564	MYO16		SNV						1	ENST00000356711	protein_coding			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,Low_complexity_(Seg):seg		P		A		1140/6874							YES	MYO16,synonymous_variant,p.=,ENST00000356711,NM_015011.1;MYO16,synonymous_variant,p.=,ENST00000357550,NM_001198950.1;MYO16,synonymous_variant,p.=,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;					1		LOW	1014/5577		MYO16_HUMAN			Transcript			.	ENSP00000349145		CCDS32008.1			1	
NDUFB3	0	LGGM	GRCh37	2	201950203	201950203	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	38	5	.	.	ENST00000237889.4:c.162G>T	p.Met54Ile	p.M54I	ENST00000237889	NM_002491.2	54	atG/atT	0	1	1	UPI000013CA29	0		ENST00000237889		ENSG00000119013	7698		43			HGNC	p.M54I		NDUFB3		SNV			1				ENST00000450023	protein_coding			hmmpanther:PTHR15082:SF2,hmmpanther:PTHR15082,Pfam_domain:PF08122		M/I		T		485/755			tolerated(0.49)	C9JKQ2_HUMAN			YES	NDUFB3,missense_variant,p.Met54Ile,ENST00000237889,NM_002491.2,NM_001257102.1;NDUFB3,missense_variant,p.Met54Ile,ENST00000454214,;NDUFB3,missense_variant,p.Met54Ile,ENST00000433898,;NDUFB3,missense_variant,p.Met54Ile,ENST00000450023,;							MODERATE	162/297		NDUB3_HUMAN			Transcript		benign(0.011)	.	ENSP00000237889		CCDS2336.1			1	
C1orf56	0	LGGM	GRCh37	1	151021099	151021099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	94	5	.	.	ENST00000368926.5:c.776G>T	p.Arg259Leu	p.R259L	ENST00000368926	NM_017860.3	259	cGg/cTg	0	1	1	UPI0000048EEB	0	NA	ENST00000368926		ENSG00000143443	26045		99	0.46		HGNC	p.R259L		C1orf56		SNV							ENST00000368926	protein_coding	getma.org/?cm=var&var=hg19,1,151021099,G,T&fts=all		Pfam_domain:PF15322,hmmpanther:PTHR16240		R/L		T	neutral	884/2096		getma.org/?cm=msa&ty=f&p=CA056_HUMAN&rb=202&re=339&var=R259L	tolerated(0.25)				YES	C1orf56,missense_variant,p.Arg259Leu,ENST00000368926,NM_017860.3;CDC42SE1,downstream_gene_variant,,ENST00000439374,;CDC42SE1,downstream_gene_variant,,ENST00000540998,NM_001038707.1;CDC42SE1,downstream_gene_variant,,ENST00000357235,NM_020239.3;BNIPL,downstream_gene_variant,,ENST00000295294,NM_001159642.1;BNIPL,downstream_gene_variant,,ENST00000368931,NM_138278.3;BNIPL,downstream_gene_variant,,ENST00000361277,;C1orf56,non_coding_transcript_exon_variant,,ENST00000465135,;CDC42SE1,downstream_gene_variant,,ENST00000492796,;BNIPL,downstream_gene_variant,,ENST00000491386,;C1orf56,upstream_gene_variant,,ENST00000473308,;CDC42SE1,downstream_gene_variant,,ENST00000483763,;BNIPL,downstream_gene_variant,,ENST00000485855,;							MODERATE	776/1026	R259L	MENT_HUMAN			Transcript		benign(0)	.	ENSP00000357922		CCDS980.1			1	
GPR19	0	LGGM	GRCh37	12	12814998	12814998	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	34	5	.	.	ENST00000540510.1:c.385G>T	p.Gly129Ter	p.G129*	ENST00000540510		129	Gga/Tga	0	1		UPI000013CAB3	0	NA	ENST00000332427		ENSG00000183150	4473		39	0		HGNC	p.G129X		GPR19		SNV							ENST00000332427	protein_coding	getma.org/?cm=var&var=hg19,12,12814998,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF188,Superfamily_domains:SSF81321		G/*		A	NA	740/1743		NA		F5GWU2_HUMAN				GPR19,stop_gained,p.Gly129Ter,ENST00000540510,;GPR19,stop_gained,p.Gly129Ter,ENST00000332427,NM_006143.2;GPR19,downstream_gene_variant,,ENST00000540796,;							HIGH	385/1248	G129*	GPR19_HUMAN			Transcript			.	ENSP00000333744		CCDS8652.1			1	
LRRD1	0	LGGM	GRCh37	7	91793454	91793454	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000458448.1:c.1063C>A	p.Gln355Lys	p.Q355K	ENST00000458448		355	Caa/Aaa	0	1		UPI0001662314	0	getma.org/pdb.php?prot=LRRD1_HUMAN&from=201&to=400&var=Q355K	ENST00000430130		ENSG00000240720	34300		56	-0.21		HGNC	p.Q355K		LRRD1		SNV							ENST00000458448	protein_coding	getma.org/?cm=var&var=hg19,7,91793454,G,T&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF452,SMART_domains:SM00365,Superfamily_domains:SSF52058		Q/K		T	neutral	1137/2661		getma.org/?cm=msa&ty=f&p=LRRD1_HUMAN&rb=201&re=400&var=Q355K	tolerated(0.33)	C9K0I1_HUMAN				LRRD1,missense_variant,p.Gln355Lys,ENST00000458448,;LRRD1,missense_variant,p.Gln355Lys,ENST00000430130,NM_001161528.1;LRRD1,5_prime_UTR_variant,,ENST00000454089,;LRRD1,intron_variant,,ENST00000343318,;LRRD1,downstream_gene_variant,,ENST00000437357,;CTB-161K23.1,intron_variant,,ENST00000453068,;LRRD1,intron_variant,,ENST00000422722,;							MODERATE	1063/2583	Q355K	LRRD1_HUMAN			Transcript		benign(0.004)	.	ENSP00000411568		CCDS55124.1			1	
THSD7B	0	LGGM	GRCh37	2	137988641	137988641	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	71	5	.	.	ENST00000272643.3:c.1751C>A	p.Pro584Gln	p.P584Q	ENST00000272643		584	cCa/cAa	0	1	1	UPI00015E0A18	0	NA	ENST00000272643		ENSG00000144229	29348		76	0.815		HGNC	p.P584Q	COSM3961196,COSM3961197	THSD7B		SNV						1,1	ENST00000272643	protein_coding	getma.org/?cm=var&var=hg19,2,137988641,C,A&fts=all		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7		P/Q		A	low	1751/5942		getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=394&re=593&var=P584Q	tolerated(0.53)				YES	THSD7B,missense_variant,p.Pro584Gln,ENST00000409968,;THSD7B,missense_variant,p.Pro584Gln,ENST00000272643,;THSD7B,missense_variant,p.Pro553Gln,ENST00000413152,NM_001080427.1;THSD7B,intron_variant,,ENST00000543459,;					1,1		MODERATE	1751/4830	P584Q	THS7B_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000272643					1	
TOR1AIP1	0	LGGM	GRCh37	1	179886868	179886868	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000606911.2:c.1246C>A	p.Arg416=	p.R416=	ENST00000606911		416	Cga/Aga	0	1	1	UPI0000203C95	0		ENST00000606911		ENSG00000143337	29456		93			HGNC	p.R432R		TOR1AIP1		SNV			1				ENST00000271583	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05609,hmmpanther:PTHR18843,hmmpanther:PTHR18843:SF3		R		A		1437/8704							YES	TOR1AIP1,synonymous_variant,p.=,ENST00000606911,;TOR1AIP1,synonymous_variant,p.=,ENST00000528443,NM_001267578.1,NM_015602.3;TOR1AIP1,synonymous_variant,p.=,ENST00000435319,;TOR1AIP1,synonymous_variant,p.=,ENST00000271583,;TOR1AIP1,synonymous_variant,p.=,ENST00000447964,;TOR1AIP1,downstream_gene_variant,,ENST00000527391,;TOR1AIP1,downstream_gene_variant,,ENST00000531630,;TOR1AIP1,downstream_gene_variant,,ENST00000474875,;							LOW	1246/1752					Transcript			.	ENSP00000476687		CCDS1335.1			1	
GON4L	0	LGGM	GRCh37	1	155823320	155823320	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	74	5	.	.	ENST00000437809.1:c.252C>A	p.Thr84=	p.T84=	ENST00000437809		84	acC/acA	0	1		UPI0000351551	0		ENST00000368331		ENSG00000116580	25973		79			HGNC	p.T84T		GON4L		SNV							ENST00000271883	protein_coding					T		T		301/7640								GON4L,synonymous_variant,p.=,ENST00000437809,;GON4L,synonymous_variant,p.=,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,synonymous_variant,p.=,ENST00000271883,;GON4L,synonymous_variant,p.=,ENST00000361040,NM_032292.4,NM_001282861.1;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000488251,;GON4L,upstream_gene_variant,,ENST00000468867,;							LOW	252/6726		GON4L_HUMAN			Transcript			.	ENSP00000357315		CCDS60296.1			1	
LGR5	0	LGGM	GRCh37	12	71977888	71977888	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	87	5	.	.	ENST00000266674.5:c.2098C>A	p.Leu700Met	p.L700M	ENST00000266674	NM_001277226.1	700	Ctg/Atg	0	1	1	UPI000004B65C	0	NA	ENST00000266674		ENSG00000139292	4504		92	2.645		HGNC	p.L628M		LGR5		SNV							ENST00000536515	protein_coding	getma.org/?cm=var&var=hg19,12,71977888,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00373,PROSITE_profiles:PS50262,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/M		A	medium	2409/4611		getma.org/?cm=msa&ty=f&p=LGR5_HUMAN&rb=574&re=820&var=L700M	deleterious(0)				YES	LGR5,missense_variant,p.Leu700Met,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,missense_variant,p.Leu676Met,ENST00000540815,;LGR5,missense_variant,p.Leu628Met,ENST00000536515,;RP11-186F10.2,upstream_gene_variant,,ENST00000546601,;LGR5,intron_variant,,ENST00000550851,;							MODERATE	2098/2724	L700M	LGR5_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000266674		CCDS9000.1			1	
UGT3A1	0	LGGM	GRCh37	5	35965652	35965652	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	77	5	.	.	ENST00000274278.3:c.679G>T	p.Glu227Ter	p.E227*	ENST00000274278	NM_152404.3	227	Gag/Tag	0	1	1	UPI000003C38B	0	NA	ENST00000274278		ENSG00000145626	26625		82	0		HGNC	p.E227X		UGT3A1		SNV							ENST00000503189	protein_coding	getma.org/?cm=var&var=hg19,5,35965652,C,A&fts=all		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF154,Superfamily_domains:SSF53756		E/*		A	NA	1037/5122		NA		A8K444_HUMAN			YES	UGT3A1,stop_gained,p.Glu227Ter,ENST00000274278,NM_152404.3;UGT3A1,stop_gained,p.Glu173Ter,ENST00000333811,NM_001171873.1;UGT3A1,stop_gained,p.Glu227Ter,ENST00000503189,;UGT3A1,stop_gained,p.Glu193Ter,ENST00000507113,;UGT3A1,intron_variant,,ENST00000513233,;UGT3A1,3_prime_UTR_variant,,ENST00000515801,;							HIGH	679/1572	E227*	UD3A1_HUMAN			Transcript			.	ENSP00000274278		CCDS3913.1			1	
PRAMEF12	0	LGGM	GRCh37	1	12836119	12836119	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	65	5	.	.	ENST00000357726.4:c.721C>A	p.His241Asn	p.H241N	ENST00000357726	NM_001080830.1	241	Cat/Aat	0	1	1	UPI000013A190	0	NA	ENST00000357726		ENSG00000116726	22125		70	2.075		HGNC	p.H241N		PRAMEF12		SNV							ENST00000357726	protein_coding	getma.org/?cm=var&var=hg19,1,12836119,C,A&fts=all		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047		H/N		A	medium	748/1786		getma.org/?cm=msa&ty=f&p=PRA12_HUMAN&rb=201&re=400&var=H241N	tolerated(0.11)				YES	PRAMEF12,missense_variant,p.His241Asn,ENST00000357726,NM_001080830.1;							MODERATE	721/1452	H241N	PRA12_HUMAN			Transcript		benign(0.01)	.	ENSP00000350358		CCDS41254.1			1	
AP4B1	0	LGGM	GRCh37	1	114438931	114438931	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000369569.1:c.1459C>A	p.Arg487=	p.R487=	ENST00000369569	NM_001253852.1	487	Cga/Aga	0	1		UPI0000072F63	0		ENST00000256658		ENSG00000134262	572		78			HGNC	p.R487R	rs771888480	AP4B1		SNV			1				ENST00000369569	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF002291,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF4,Superfamily_domains:SSF48371		R		T		1664/2742	1.50E-05			B1ALD2_HUMAN				AP4B1,synonymous_variant,p.=,ENST00000369569,NM_001253852.1;AP4B1,synonymous_variant,p.=,ENST00000256658,NM_006594.3,NM_001253853.1;AP4B1,synonymous_variant,p.=,ENST00000369567,;AP4B1,downstream_gene_variant,,ENST00000369566,;AP4B1,downstream_gene_variant,,ENST00000369564,;AP4B1,downstream_gene_variant,,ENST00000369571,;AP4B1,downstream_gene_variant,,ENST00000432415,;AP4B1-AS1,intron_variant,,ENST00000419536,;AP4B1,non_coding_transcript_exon_variant,,ENST00000462591,;AP4B1,non_coding_transcript_exon_variant,,ENST00000479285,;AP4B1,non_coding_transcript_exon_variant,,ENST00000479801,;AP4B1,downstream_gene_variant,,ENST00000489499,;AP4B1,downstream_gene_variant,,ENST00000484201,;AP4B1,downstream_gene_variant,,ENST00000489092,;AP4B1,downstream_gene_variant,,ENST00000472122,;AP4B1,downstream_gene_variant,,ENST00000460653,;							LOW	1459/2220		AP4B1_HUMAN			Transcript			.	ENSP00000256658	8.24E-06	CCDS865.1			1	
TTN	0	LGGM	GRCh37	2	179391952	179391952	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	94	5	.	.	ENST00000589042.1:c.107763G>T	p.Thr35921=	p.T35921=	ENST00000589042	NM_001267550.1	35921	acG/acT	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		99			HGNC	p.T26981T		TTN		SNV			1				ENST00000359218	protein_coding			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		T		A		103065/104301				C9JQJ2_HUMAN				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,,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,;							LOW	102840/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
POSTN	0	LGGM	GRCh37	13	38158989	38158989	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000379747.4:c.972G>T	p.Leu324=	p.L324=	ENST00000379747	NM_006475.2	324	ctG/ctT	0	1	1	UPI000013CEB8	0		ENST00000379747		ENSG00000133110	16953		56			HGNC	p.L324L		POSTN		SNV							ENST00000541179	protein_coding			Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12,SMART_domains:SM00554,Superfamily_domains:SSF82153		L		A		1090/3373							YES	POSTN,synonymous_variant,p.=,ENST00000379747,NM_006475.2;POSTN,synonymous_variant,p.=,ENST00000541179,NM_001135935.1,NM_001135936.1;POSTN,synonymous_variant,p.=,ENST00000379749,;POSTN,synonymous_variant,p.=,ENST00000379743,NM_001286665.1;POSTN,synonymous_variant,p.=,ENST00000379742,NM_001135934.1;POSTN,synonymous_variant,p.=,ENST00000541481,NM_001286666.1;							LOW	972/2511		POSTN_HUMAN			Transcript			.	ENSP00000369071		CCDS9364.1			1	
NLRP3	0	LGGM	GRCh37	1	247588640	247588640	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000336119.3:c.1895A>G	p.Tyr632Cys	p.Y632C	ENST00000336119	NM_001127462.2	632	tAc/tGc	0	1	1	UPI00001CE3AD	0	NA	ENST00000336119		ENSG00000162711	16400		56	1.535		HGNC	p.Y632C		NLRP3		SNV			1				ENST00000366496	protein_coding	getma.org/?cm=var&var=hg19,1,247588640,A,G&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Superfamily_domains:SSF52047		Y/C		G	low	2641/4170		getma.org/?cm=msa&ty=f&p=NALP3_HUMAN&rb=590&re=739&var=Y632C	tolerated(0.1)	Q65Z67_HUMAN,B7ZKS9_HUMAN			YES	NLRP3,missense_variant,p.Tyr632Cys,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Tyr632Cys,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Tyr632Cys,ENST00000366496,;NLRP3,missense_variant,p.Tyr632Cys,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Tyr632Cys,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Tyr632Cys,ENST00000391827,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;							MODERATE	1895/3111	Y632C	NALP3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337383		CCDS1632.1			1	
TRIP11	0	LGGM	GRCh37	14	92471454	92471454	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	65	5	.	.	ENST00000267622.4:c.2866C>A	p.Gln956Lys	p.Q956K	ENST00000267622	NM_004239.3	956	Cag/Aag	0	1	1	UPI000013D767	0	NA	ENST00000267622		ENSG00000100815	12305		70	1.1		HGNC	p.Q956K		TRIP11		SNV			1				ENST00000267622	protein_coding	getma.org/?cm=var&var=hg19,14,92471454,G,T&fts=all		hmmpanther:PTHR18921,hmmpanther:PTHR18921:SF2		Q/K		T	low	3240/9996		getma.org/?cm=msa&ty=f&p=TRIPB_HUMAN&rb=771&re=979&var=Q956K	tolerated(0.28)	G3V4R7_HUMAN			YES	TRIP11,missense_variant,p.Gln956Lys,ENST00000267622,NM_004239.3;TRIP11,missense_variant,p.Gln672Lys,ENST00000554357,;							MODERATE	2866/5940	Q956K	TRIPB_HUMAN			Transcript		benign(0.132)	.	ENSP00000267622		CCDS9899.1			1	
LOXL4	0	LGGM	GRCh37	10	100012155	100012155	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000260702.3:c.1906G>T	p.Gly636Trp	p.G636W	ENST00000260702	NM_032211.6	636	Ggg/Tgg	0	1	1	UPI0000046706	0	NA	ENST00000260702		ENSG00000138131	17171		56	3.545		HGNC	p.G636W		LOXL4		SNV							ENST00000260702	protein_coding	getma.org/?cm=var&var=hg19,10,100012155,C,A&fts=all		Pfam_domain:PF01186,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF77		G/W		A	high	2057/3653		getma.org/?cm=msa&ty=f&p=LOXL4_HUMAN&rb=533&re=736&var=G636W	deleterious(0)				YES	LOXL4,missense_variant,p.Gly636Trp,ENST00000260702,NM_032211.6;RP11-34A14.3,intron_variant,,ENST00000433374,;							MODERATE	1906/2271	G636W	LOXL4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260702		CCDS7473.1			1	
MIA3	0	LGGM	GRCh37	1	222801675	222801675	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	89	5	.	.	ENST00000344922.5:c.1113C>A	p.Gly371=	p.G371=	ENST00000344922	NM_198551.2	371	ggC/ggA	0	1	1	UPI00001D75B3	0		ENST00000344922		ENSG00000154305	24008		94			HGNC	p.G371G		MIA3		SNV							ENST00000344922	protein_coding			hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37		G		A		1138/8142							YES	MIA3,synonymous_variant,p.=,ENST00000344922,NM_198551.2;MIA3,synonymous_variant,p.=,ENST00000344441,;MIA3,synonymous_variant,p.=,ENST00000344507,;MIA3,upstream_gene_variant,,ENST00000354906,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;							LOW	1113/5724		MIA3_HUMAN			Transcript			.	ENSP00000340900		CCDS41470.1			1	
CHGB	0	LGGM	GRCh37	20	5903960	5903960	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	84	5	.	.	ENST00000378961.4:c.1170C>A	p.Pro390=	p.P390=	ENST00000378961	NM_001819.2	390	ccC/ccA	0	1	1	UPI000013C63D	0		ENST00000378961		ENSG00000089199	1930		89			HGNC	p.P390P		CHGB		SNV							ENST00000378961	protein_coding			Pfam_domain:PF01271,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583		P		A		1374/2550							YES	CHGB,synonymous_variant,p.=,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;							LOW	1170/2034		SCG1_HUMAN			Transcript			.	ENSP00000368244		CCDS13092.1			1	
CLINT1	0	LGGM	GRCh37	5	157218927	157218927	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	69	5	.	.	ENST00000523908.1:c.1164C>A	p.Ser388=	p.S388=	ENST00000523908		388	tcC/tcA	0	1		UPI000006F089	0		ENST00000411809		ENSG00000113282	23186		74			HGNC	p.S370S		CLINT1		SNV							ENST00000530742	protein_coding			hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF47		S		T		1369/3440								CLINT1,synonymous_variant,p.=,ENST00000523094,NM_001195556.1,NM_001195555.1;CLINT1,synonymous_variant,p.=,ENST00000296951,;CLINT1,synonymous_variant,p.=,ENST00000411809,NM_014666.3;CLINT1,synonymous_variant,p.=,ENST00000530742,;CLINT1,synonymous_variant,p.=,ENST00000523908,;CLINT1,synonymous_variant,p.=,ENST00000521615,;CLINT1,upstream_gene_variant,,ENST00000522381,;CLINT1,non_coding_transcript_exon_variant,,ENST00000518855,;CLINT1,non_coding_transcript_exon_variant,,ENST00000530302,;CLINT1,upstream_gene_variant,,ENST00000524306,;CLINT1,upstream_gene_variant,,ENST00000521047,;							LOW	1164/1878		EPN4_HUMAN			Transcript			.	ENSP00000388340		CCDS47330.1			1	
ATN1	0	LGGM	GRCh37	12	7047930	7047930	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	17	5	.	.	ENST00000356654.4:c.2804G>T	p.Arg935Leu	p.R935L	ENST00000356654	NM_001007026.1	935	cGg/cTg	0	1	1	UPI000006F554	0	NA	ENST00000356654		ENSG00000111676	3033		22	1.385		HGNC	p.R935L		ATN1		SNV			1				ENST00000396684	protein_coding	getma.org/?cm=var&var=hg19,12,7047930,G,T&fts=all		Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9,Low_complexity_(Seg):seg		R/L		T	low	3041/4351		getma.org/?cm=msa&ty=f&p=ATN1_HUMAN&rb=349&re=1190&var=R935L		Q86V38_HUMAN			YES	ATN1,missense_variant,p.Arg935Leu,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Arg935Leu,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,;							MODERATE	2804/3573	R935L	ATN1_HUMAN			Transcript		benign(0.02)	.	ENSP00000349076		CCDS31734.1			1	
MON2	0	LGGM	GRCh37	12	62959158	62959158	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	80	5	.	.	ENST00000393632.2:c.4174C>A	p.Gln1392Lys	p.Q1392K	ENST00000393632	NM_001278472.1	1392	Cag/Aag	0	1		UPI0000D45F87	0	NA	ENST00000393630		ENSG00000061987	29177		85	0		HGNC	p.Q1369K		MON2		SNV							ENST00000552738	protein_coding	getma.org/?cm=var&var=hg19,12,62959158,C,A&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105		Q/K		A	neutral	4568/10382		getma.org/?cm=msa&ty=f&p=MON2_HUMAN&rb=1334&re=1533&var=Q1393K	tolerated(0.43)					MON2,missense_variant,p.Gln1393Lys,ENST00000393630,;MON2,missense_variant,p.Gln1392Lys,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,missense_variant,p.Gln1392Lys,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Gln1392Lys,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Gln1369Lys,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Gln1393Lys,ENST00000280379,;MON2,splice_region_variant,,ENST00000547095,;MON2,splice_region_variant,,ENST00000551307,;MON2,splice_region_variant,,ENST00000547287,;MON2,upstream_gene_variant,,ENST00000549539,;							MODERATE	4177/5157	Q1393K	MON2_HUMAN			Transcript		benign(0.053)	.	ENSP00000377250					1	
CLCN2	0	LGGM	GRCh37	3	184070837	184070837	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	69	5	.	.	ENST00000265593.4:c.2127C>A	p.Leu709=	p.L709=	ENST00000265593	NM_004366.5	709	ctC/ctA	0	1	1	UPI000013D645	0		ENST00000265593		ENSG00000114859	2020		74			HGNC	p.L665L		CLCN2		SNV			1				ENST00000434054	protein_coding			hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF64		L		T		2299/3290							YES	CLCN2,synonymous_variant,p.=,ENST00000265593,NM_004366.5;CLCN2,synonymous_variant,p.=,ENST00000344937,NM_001171087.2;CLCN2,synonymous_variant,p.=,ENST00000434054,NM_001171088.2;CLCN2,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000491162,;CLCN2,downstream_gene_variant,,ENST00000485667,;CLCN2,downstream_gene_variant,,ENST00000465231,;							LOW	2127/2697		CLCN2_HUMAN			Transcript			.	ENSP00000265593		CCDS3263.1			1	
RSU1	0	LGGM	GRCh37	10	16794546	16794546	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	5	.	.	ENST00000377921.3:c.590C>A	p.Pro197Gln	p.P197Q	ENST00000377921		197	cCa/cAa	0	1		UPI0000000C72	0	NA	ENST00000345264		ENSG00000148484	10464		95	1.43		HGNC	p.P197Q		RSU1		SNV							ENST00000345264	protein_coding	getma.org/?cm=var&var=hg19,10,16794546,G,T&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058		P/Q		T	low	807/3834		getma.org/?cm=msa&ty=f&p=RSU1_HUMAN&rb=157&re=203&var=P197Q	deleterious(0)					RSU1,missense_variant,p.Pro197Gln,ENST00000377921,;RSU1,missense_variant,p.Pro197Gln,ENST00000345264,NM_012425.3;RSU1,missense_variant,p.Pro144Gln,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,;							MODERATE	590/834	P197Q	RSU1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339521		CCDS7112.1			1	
MAP2K5	0	LGGM	GRCh37	15	67893048	67893048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	47	5	.	.	ENST00000178640.5:c.506G>T	p.Arg169Leu	p.R169L	ENST00000178640	NM_145160.2	169	cGg/cTg	0	1	1	UPI0000072D4A	0	getma.org/pdb.php?prot=MP2K5_HUMAN&from=166&to=419&var=R169L	ENST00000178640		ENSG00000137764	6845		52	-0.56		HGNC	p.R169L		MAP2K5		SNV							ENST00000178640	protein_coding	getma.org/?cm=var&var=hg19,15,67893048,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24360:SF42,hmmpanther:PTHR24360,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		T	neutral	1133/2347		getma.org/?cm=msa&ty=f&p=MP2K5_HUMAN&rb=166&re=419&var=R169L	tolerated(1)	H7BZL1_HUMAN			YES	MAP2K5,missense_variant,p.Arg169Leu,ENST00000178640,NM_145160.2;MAP2K5,missense_variant,p.Arg133Leu,ENST00000354498,NM_001206804.1;MAP2K5,missense_variant,p.Arg169Leu,ENST00000395476,NM_002757.3;MAP2K5,missense_variant,p.Arg102Leu,ENST00000439036,;MAP2K5,non_coding_transcript_exon_variant,,ENST00000560591,;MAP2K5,non_coding_transcript_exon_variant,,ENST00000559262,;MAP2K5,non_coding_transcript_exon_variant,,ENST00000558392,;							MODERATE	506/1347	R169L	MP2K5_HUMAN			Transcript		benign(0.001)	.	ENSP00000178640		CCDS10224.1			1	
IGKV1-17	0	LGGM	GRCh37	2	89416901	89416901	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	93	5	.	.	ENST00000490686.1:c.283C>A	p.Leu95Ile	p.L95I	ENST00000490686		95	Ctc/Atc	0	1	1	UPI000011618B	0		ENST00000490686		ENSG00000240382	5733		98			HGNC	p.L95I		IGKV1-17		SNV							ENST00000490686	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/I		T		310/378			deleterious(0)				YES	IGKV1-17,missense_variant,p.Leu95Ile,ENST00000490686,;							MODERATE	283/351					Transcript		probably_damaging(0.915)	.	ENSP00000418357					1	
HHIPL1	0	LGGM	GRCh37	14	100123377	100123377	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000330710.5:c.943G>T	p.Gly315Trp	p.G315W	ENST00000330710	NM_001127258.1	315	Ggg/Tgg	0	1	1	UPI000022988D	0	getma.org/pdb.php?prot=HIPL1_HUMAN&from=193&to=555&var=G315W	ENST00000330710		ENSG00000182218	19710		78	4.485		HGNC	p.G315W		HHIPL1		SNV							ENST00000330710	protein_coding	getma.org/?cm=var&var=hg19,14,100123377,G,T&fts=all		Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328:SF32,hmmpanther:PTHR19328		G/W		T	high	1041/7390		getma.org/?cm=msa&ty=f&p=HIPL1_HUMAN&rb=193&re=555&var=G315W	deleterious(0)	F1T0G3_HUMAN			YES	HHIPL1,missense_variant,p.Gly315Trp,ENST00000330710,NM_001127258.1;HHIPL1,missense_variant,p.Gly315Trp,ENST00000357223,NM_032425.4;							MODERATE	943/2349	G315W	HIPL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330601		CCDS45162.1			1	
FREM2	0	LGGM	GRCh37	13	39432154	39432154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	56	5	.	.	ENST00000280481.7:c.7199C>A	p.Pro2400His	p.P2400H	ENST00000280481	NM_207361.4	2400	cCt/cAt	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		61	2.985		HGNC	p.P2400H		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39432154,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		P/H		A	medium	7415/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=2359&re=3167&var=P2400H	deleterious(0)				YES	FREM2,missense_variant,p.Pro2400His,ENST00000280481,NM_207361.4;							MODERATE	7199/9510	P2400H	FREM2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000280481		CCDS31960.1			1	
LRRC37A3	0	LGGM	GRCh37	17	62856645	62856645	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000584306.1:c.3619G>T	p.Gly1207Ter	p.G1207*	ENST00000584306	NM_199340.2	1207	Gga/Tga	0	1		UPI00005B2F0A	0	NA	ENST00000319651		ENSG00000176809	32427		78	0		HGNC	p.G1207X		LRRC37A3		SNV							ENST00000584306	protein_coding	getma.org/?cm=var&var=hg19,17,62856645,C,A&fts=all		hmmpanther:PTHR23045		G/*		A	NA	4022/5537		NA		F8W7X0_HUMAN,B4DSF2_HUMAN				LRRC37A3,stop_gained,p.Gly1207Ter,ENST00000584306,NM_199340.2;LRRC37A3,stop_gained,p.Gly1207Ter,ENST00000319651,;LRRC37A3,stop_gained,p.Gly245Ter,ENST00000400877,;LRRC37A3,stop_gained,p.Gly184Ter,ENST00000334962,;LRRC37A3,stop_gained,p.Gly325Ter,ENST00000339474,;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;							HIGH	3619/4905	G1207*	L37A3_HUMAN			Transcript			.	ENSP00000325713		CCDS32708.1			1	
XRN2	0	LGGM	GRCh37	20	21312424	21312424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	93	5	.	.	ENST00000377191.3:c.668C>A	p.Pro223Gln	p.P223Q	ENST00000377191	NM_012255.3	223	cCa/cAa	0	1	1	UPI0000037D02	0	getma.org/pdb.php?prot=XRN2_HUMAN&from=1&to=255&var=P223Q	ENST00000377191		ENSG00000088930	12836		98	3.35		HGNC	p.P169Q		XRN2		SNV							ENST00000539513	protein_coding	getma.org/?cm=var&var=hg19,20,21312424,C,A&fts=all		hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF037239		P/Q		A	medium	763/3435		getma.org/?cm=msa&ty=f&p=XRN2_HUMAN&rb=1&re=255&var=P223Q	deleterious(0)	B4DZC3_HUMAN			YES	XRN2,missense_variant,p.Pro223Gln,ENST00000377191,NM_012255.3;XRN2,missense_variant,p.Pro169Gln,ENST00000539513,;XRN2,missense_variant,p.Pro147Gln,ENST00000430571,;							MODERATE	668/2853	P223Q	XRN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366396		CCDS13144.1			1	
MTHFD2	0	LGGM	GRCh37	2	74435799	74435799	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	83	5	.	.	ENST00000394053.2:c.513C>A	p.Ser171=	p.S171=	ENST00000394053	NM_006636.3	171	tcC/tcA	0	1	1	UPI0000208708	0		ENST00000394053		ENSG00000065911	7434		88			HGNC	p.S171S		MTHFD2		SNV							ENST00000394053	protein_coding			HAMAP:MF_01576,hmmpanther:PTHR10025:SF29,hmmpanther:PTHR10025,Gene3D:3.40.192.10,Pfam_domain:PF02882,Superfamily_domains:SSF51735,Superfamily_domains:SSF53223		S		A		593/4456				Q7Z650_HUMAN,B4DY35_HUMAN,B2R7W0_HUMAN			YES	MTHFD2,synonymous_variant,p.=,ENST00000394053,NM_006636.3;MTHFD2,synonymous_variant,p.=,ENST00000409601,;MTHFD2,synonymous_variant,p.=,ENST00000264090,;MTHFD2,synonymous_variant,p.=,ENST00000394050,;MTHFD2,intron_variant,,ENST00000409804,;MTHFD2,non_coding_transcript_exon_variant,,ENST00000477455,;MTHFD2,non_coding_transcript_exon_variant,,ENST00000462026,;MTHFD2,downstream_gene_variant,,ENST00000488086,;MTHFD2,3_prime_UTR_variant,,ENST00000470592,;MTHFD2,3_prime_UTR_variant,,ENST00000489041,;RP11-287D1.3,downstream_gene_variant,,ENST00000451608,;							LOW	513/1053		MTDC_HUMAN			Transcript			.	ENSP00000377617		CCDS1935.2			1	
VCAN	0	LGGM	GRCh37	5	82849273	82849273	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	76	5	.	.	ENST00000265077.3:c.9584G>T	p.Arg3195Leu	p.R3195L	ENST00000265077	NM_004385.4	3195	cGg/cTg	0	1	1	UPI000013178B	0	getma.org/pdb.php?prot=CSPG2_HUMAN&from=3186&to=3291&var=R3195L	ENST00000265077		ENSG00000038427	2464		81	0.62		HGNC	p.R454L		VCAN		SNV			1				ENST00000502527	protein_coding	getma.org/?cm=var&var=hg19,5,82849273,G,T&fts=all		Superfamily_domains:SSF56436,SMART_domains:SM00034,Pfam_domain:PF00059,Gene3D:3.10.100.10,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50041		R/L		T	neutral	10149/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=3186&re=3291&var=R3195L	deleterious(0)				YES	VCAN,missense_variant,p.Arg3195Leu,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Arg2208Leu,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Arg1441Leu,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Arg1393Leu,ENST00000512590,;VCAN,missense_variant,p.Arg454Leu,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,;							MODERATE	9584/10191	R3195L	CSPG2_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000265077		CCDS4060.1			1	
TTN	0	LGGM	GRCh37	2	179587532	179587532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	84	5	.	.	ENST00000589042.1:c.22094C>A	p.Pro7365Gln	p.P7365Q	ENST00000589042	NM_001267550.1	7365	cCa/cAa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=7006&to=7095&var=P7048Q	ENST00000591111		ENSG00000155657	12403		89	0.64		HGNC	p.P7048Q		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179587532,G,T&fts=all		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		P/Q		T	neutral	21368/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=7006&re=7095&var=P7048Q		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro7365Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro7048Gln,ENST00000591111,;TTN,missense_variant,p.Pro6121Gln,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,;							MODERATE	21143/103053	P7048Q	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
HOMER1	0	LGGM	GRCh37	5	78746920	78746920	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	69	5	.	.	ENST00000334082.6:c.187C>A	p.Pro63Thr	p.P63T	ENST00000334082	NM_004272.4	63	Cca/Aca	0	1	1	UPI000006D8F2	0	getma.org/pdb.php?prot=HOME1_HUMAN&from=1&to=107&var=P63T	ENST00000334082		ENSG00000152413	17512		74	2.915		HGNC	p.P63T		HOMER1		SNV							ENST00000334082	protein_coding	getma.org/?cm=var&var=hg19,5,78746920,G,T&fts=all		PROSITE_profiles:PS50229,hmmpanther:PTHR10918:SF3,hmmpanther:PTHR10918,Gene3D:2.30.29.30,Pfam_domain:PF00568,SMART_domains:SM00461,Superfamily_domains:SSF50729		P/T		T	medium	1630/5881		getma.org/?cm=msa&ty=f&p=HOME1_HUMAN&rb=1&re=107&var=P63T	deleterious(0)				YES	HOMER1,missense_variant,p.Pro63Thr,ENST00000334082,NM_004272.4;HOMER1,missense_variant,p.Pro63Thr,ENST00000508576,NM_001277078.1;HOMER1,missense_variant,p.Pro63Thr,ENST00000282260,NM_001277077.1;HOMER1,intron_variant,,ENST00000535690,;							MODERATE	187/1065	P63T	HOME1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000334382		CCDS43335.1			1	
ITGB6	0	LGGM	GRCh37	2	161029225	161029225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	74	5	.	.	ENST00000283249.2:c.776G>T	p.Arg259Leu	p.R259L	ENST00000283249	NM_001282388.1	259	cGg/cTg	0	1	1	UPI000012DA13	0	getma.org/pdb.php?prot=ITB6_HUMAN&from=30&to=456&var=R259L	ENST00000283249		ENSG00000115221	6161		79	3.01		HGNC	p.R259L		ITGB6		SNV			1				ENST00000409872	protein_coding	getma.org/?cm=var&var=hg19,2,161029225,C,A&fts=all		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		R/L		A	medium	1014/4675		getma.org/?cm=msa&ty=f&p=ITB6_HUMAN&rb=30&re=456&var=R259L	deleterious(0.01)				YES	ITGB6,missense_variant,p.Arg259Leu,ENST00000283249,NM_001282388.1,NM_001282354.1,NM_001282353.1;ITGB6,missense_variant,p.Arg217Leu,ENST00000428609,;ITGB6,missense_variant,p.Arg259Leu,ENST00000409872,NM_000888.3;ITGB6,missense_variant,p.Arg259Leu,ENST00000409967,NM_001282355.1;ITGB6,non_coding_transcript_exon_variant,,ENST00000485635,;ITGB6,3_prime_UTR_variant,,ENST00000409583,NM_001282390.1,NM_001282389.1;							MODERATE	776/2367	R259L	ITB6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000283249		CCDS2212.1			1	
TESK1	0	LGGM	GRCh37	9	35607583	35607583	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	14	5	.	.	ENST00000336395.5:c.625G>T	p.Gly209Trp	p.G209W	ENST00000336395	NM_006285.2	209	Ggg/Tgg	0	1	1	UPI0000074302	0	getma.org/pdb.php?prot=TESK1_HUMAN&from=57&to=311&var=G209W	ENST00000336395		ENSG00000107140	11731		19	2.525		HGNC	p.G209W		TESK1		SNV							ENST00000336395	protein_coding	getma.org/?cm=var&var=hg19,9,35607583,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112		G/W		T	medium	875/2421		getma.org/?cm=msa&ty=f&p=TESK1_HUMAN&rb=57&re=311&var=G209W	deleterious(0)	Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN			YES	TESK1,missense_variant,p.Gly209Trp,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,;TESK1,non_coding_transcript_exon_variant,,ENST00000467424,;TESK1,non_coding_transcript_exon_variant,,ENST00000463897,;CD72,downstream_gene_variant,,ENST00000490239,;TESK1,upstream_gene_variant,,ENST00000480077,;							MODERATE	625/1881	G209W	TESK1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000338127		CCDS6580.1			1	
ARHGEF12	0	LGGM	GRCh37	11	120308040	120308040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	68	5	.	.	ENST00000397843.2:c.948G>T	p.Glu316Asp	p.E316D	ENST00000397843	NM_015313.2	316	gaG/gaT	0	1	1	UPI00000708ED	0	NA	ENST00000397843		ENSG00000196914	14193		73	0.895		HGNC	p.E316D		ARHGEF12		SNV							ENST00000397843	protein_coding	getma.org/?cm=var&var=hg19,11,120308040,G,T&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8		E/D		T	low	1114/9660		getma.org/?cm=msa&ty=f&p=ARHGC_HUMAN&rb=146&re=345&var=E316D	tolerated(0.41)	E9PMR6_HUMAN			YES	ARHGEF12,missense_variant,p.Glu316Asp,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Glu297Asp,ENST00000356641,NM_001198665.1;ARHGEF12,missense_variant,p.Glu213Asp,ENST00000532993,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,upstream_gene_variant,,ENST00000528225,;							MODERATE	948/4635	E316D	ARHGC_HUMAN			Transcript		benign(0.011)	.	ENSP00000380942		CCDS41727.1			1	
NCK1	0	LGGM	GRCh37	3	136667240	136667240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	72	5	.	.	ENST00000481752.1:c.1079C>A	p.Pro360Gln	p.P360Q	ENST00000481752		360	cCa/cAa	0	1		UPI000012FE3E	0	getma.org/pdb.php?prot=NCK1_HUMAN&from=282&to=376&var=P360Q	ENST00000288986		ENSG00000158092	7664		77	2.935		HGNC	p.P360Q		NCK1		SNV							ENST00000288986	protein_coding	getma.org/?cm=var&var=hg19,3,136667240,C,A&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF11,Gene3D:3.30.505.10,SMART_domains:SM00252,PIRSF_domain:PIRSF037874,Superfamily_domains:SSF55550		P/Q		A	medium	1209/1937		getma.org/?cm=msa&ty=f&p=NCK1_HUMAN&rb=282&re=376&var=P360Q	deleterious(0)	C9K098_HUMAN,C9JVV5_HUMAN,C9J0K5_HUMAN				NCK1,missense_variant,p.Pro296Gln,ENST00000469404,NM_001190796.1;NCK1,missense_variant,p.Pro360Gln,ENST00000481752,;NCK1,missense_variant,p.Pro360Gln,ENST00000288986,NM_006153.4;NCK1,missense_variant,p.Pro163Gln,ENST00000467911,;NCK1,downstream_gene_variant,,ENST00000491539,;NCK1,downstream_gene_variant,,ENST00000485096,;NCK1,downstream_gene_variant,,ENST00000488930,;NCK1,downstream_gene_variant,,ENST00000496489,;IL20RB,intron_variant,,ENST00000484501,;NCK1,downstream_gene_variant,,ENST00000482071,;							MODERATE	1079/1134	P360Q	NCK1_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000288986		CCDS3092.1			1	
TTN	0	LGGM	GRCh37	2	179494167	179494167	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	113	5	.	.	ENST00000589042.1:c.44285G>T	p.Arg14762Leu	p.R14762L	ENST00000589042	NM_001267550.1	14762	cGa/cTa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=13120&to=13206&var=R13121L	ENST00000591111		ENSG00000155657	12403		118	3.04		HGNC	p.R5822L		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179494167,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		R/L		A	medium	39587/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=13120&re=13206&var=R13121L		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg14762Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg13121Leu,ENST00000591111,;TTN,missense_variant,p.Arg12194Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg5889Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg5822Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg5697Leu,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,;							MODERATE	39362/103053	R13121L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
TMEM33	0	LGGM	GRCh37	4	41941322	41941322	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	5	.	.	ENST00000504986.1:c.250C>A	p.Leu84Met	p.L84M	ENST00000504986	NM_018126.2	84	Ctg/Atg	0	1		UPI000004C095	0	NA	ENST00000325094		ENSG00000109133	25541		51	1.79		HGNC	p.L84M		TMEM33		SNV							ENST00000508448	protein_coding	getma.org/?cm=var&var=hg19,4,41941322,C,A&fts=all		hmmpanther:PTHR12703,Pfam_domain:PF03661		L/M		A	low	583/6743		getma.org/?cm=msa&ty=f&p=TMM33_HUMAN&rb=1&re=247&var=L84M	tolerated(0.08)	D6RAA6_HUMAN				TMEM33,missense_variant,p.Leu84Met,ENST00000504986,NM_018126.2;TMEM33,missense_variant,p.Leu84Met,ENST00000325094,;TMEM33,missense_variant,p.Leu84Met,ENST00000513702,;TMEM33,missense_variant,p.Leu84Met,ENST00000508448,;TMEM33,missense_variant,p.Leu18Met,ENST00000513558,;TMEM33,intron_variant,,ENST00000264452,;TMEM33,intron_variant,,ENST00000510383,;TMEM33,intron_variant,,ENST00000506794,;							MODERATE	250/744	L84M	TMM33_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000441455		CCDS3464.1			1	
TXNIP	0	LGGM	GRCh37	1	145440783	145440783	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	5	.	.	ENST00000369317.4:c.983C>A	p.Pro328Gln	p.P328Q	ENST00000369317	NM_006472.4	328	cCa/cAa	0	1	1	UPI0000072AFB	0	NA	ENST00000369317		ENSG00000117289	16952		91	1.52		HGNC	p.P328Q		TXNIP		SNV							ENST00000369317	protein_coding	getma.org/?cm=var&var=hg19,1,145440783,C,A&fts=all		hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF14,Superfamily_domains:SSF81296		P/Q		A	low	1317/2927		getma.org/?cm=msa&ty=f&p=TXNIP_HUMAN&rb=301&re=391&var=P328Q	deleterious(0)	B4DVM7_HUMAN			YES	TXNIP,missense_variant,p.Pro328Gln,ENST00000369317,NM_006472.4;TXNIP,missense_variant,p.Pro273Gln,ENST00000425134,;TXNIP,intron_variant,,ENST00000475171,;TXNIP,non_coding_transcript_exon_variant,,ENST00000488537,;TXNIP,upstream_gene_variant,,ENST00000486597,;							MODERATE	983/1176	P328Q	TXNIP_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000358323		CCDS913.1			1	
ZNF804B	0	LGGM	GRCh37	7	88964976	88964976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	5	.	.	ENST00000333190.4:c.2680G>T	p.Gly894Trp	p.G894W	ENST00000333190	NM_181646.2	894	Ggg/Tgg	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		91	0.805		HGNC	p.G894W	COSM1727071	ZNF804B		SNV						1	ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88964976,G,T&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		G/W		T	low	3289/4659		getma.org/?cm=msa&ty=f&p=Z804B_HUMAN&rb=620&re=907&var=G894W	deleterious(0.02)				YES	ZNF804B,missense_variant,p.Gly894Trp,ENST00000333190,NM_181646.2;					1		MODERATE	2680/4050	G894W	Z804B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000329638		CCDS5613.1			1	
RECK	0	LGGM	GRCh37	9	36122984	36122984	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	5	.	.	ENST00000377966.3:c.2858C>A	p.Ser953Tyr	p.S953Y	ENST00000377966	NM_021111.2	953	tCc/tAc	0	1	1	UPI0000133587	0	NA	ENST00000377966		ENSG00000122707	11345		32	0.69		HGNC	p.S953Y		RECK		SNV							ENST00000377966	protein_coding	getma.org/?cm=var&var=hg19,9,36122984,C,A&fts=all		hmmpanther:PTHR13487		S/Y		A	neutral	3424/4888		getma.org/?cm=msa&ty=f&p=RECK_HUMAN&rb=788&re=971&var=S953Y	tolerated(1)				YES	RECK,missense_variant,p.Ser953Tyr,ENST00000377966,NM_021111.2;							MODERATE	2858/2916	S953Y	RECK_HUMAN			Transcript		benign(0.011)	.	ENSP00000367202		CCDS6597.1			1	
TMEM170B	0	LGGM	GRCh37	6	11565919	11565919	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	81	5	.	.	ENST00000379426.1:c.118C>A	p.Leu40Ile	p.L40I	ENST00000379426	NM_001100829.2	40	Ctc/Atc	0	1	1	UPI000046FF52	0	NA	ENST00000379426		ENSG00000205269	34244		86	1.65		HGNC	p.L40I		TMEM170B		SNV							ENST00000543875	protein_coding	getma.org/?cm=var&var=hg19,6,11565919,C,A&fts=all		Pfam_domain:PF10190,hmmpanther:PTHR22779,hmmpanther:PTHR22779:SF4,Transmembrane_helices:TMhelix		L/I		A	low	118/8362		getma.org/?cm=msa&ty=f&p=T170B_HUMAN&rb=28&re=132&var=L40I	deleterious(0)				YES	TMEM170B,missense_variant,p.Leu40Ile,ENST00000379426,NM_001100829.2;TMEM170B,missense_variant,p.Leu40Ile,ENST00000543875,;							MODERATE	118/399	L40I	T170B_HUMAN			Transcript		possibly_damaging(0.689)	.	ENSP00000368737		CCDS43425.1			1	
ZNF649	0	LGGM	GRCh37	19	52395119	52395119	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	49	5	.	.	ENST00000354957.3:c.270G>T	p.Gln90His	p.Q90H	ENST00000354957	NM_023074.3	90	caG/caT	0	1	1	UPI000006D442	0	NA	ENST00000354957		ENSG00000198093	25741		54	0		HGNC	p.Q90H		ZNF649		SNV							ENST00000600738	protein_coding	getma.org/?cm=var&var=hg19,19,52395119,C,A&fts=all		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF24		Q/H		A	neutral	555/3197		getma.org/?cm=msa&ty=f&p=ZN649_HUMAN&rb=49&re=163&var=Q90H	tolerated(0.59)	M0R098_HUMAN			YES	ZNF649,missense_variant,p.Gln90His,ENST00000354957,NM_023074.3;ZNF649,missense_variant,p.Gln90His,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;ZNF649,downstream_gene_variant,,ENST00000599530,;ZNF577,upstream_gene_variant,,ENST00000446514,;ZNF649,downstream_gene_variant,,ENST00000596690,;ZNF649,downstream_gene_variant,,ENST00000595418,;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,,ENST00000588878,;ZNF649,downstream_gene_variant,,ENST00000599671,;ZNF649,downstream_gene_variant,,ENST00000597882,;							MODERATE	270/1518	Q90H	ZN649_HUMAN			Transcript		possibly_damaging(0.525)	.	ENSP00000347043		CCDS12843.1			1	
DNAJC16	0	LGGM	GRCh37	1	15863284	15863284	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	5	.	.	ENST00000375847.3:c.549A>G	p.Glu183=	p.E183=	ENST00000375847	NM_015291.2	183	gaA/gaG	0	1	1	UPI000000DBDB	0		ENST00000375847		ENSG00000116138	29157		42			HGNC	p.E183E		DNAJC16		SNV							ENST00000375849	protein_coding			PROSITE_profiles:PS51352,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833		E		G		713/6069				B3KMS3_HUMAN			YES	DNAJC16,synonymous_variant,p.=,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,synonymous_variant,p.=,ENST00000375849,;DNAJC16,synonymous_variant,p.=,ENST00000375838,;DNAJC16,synonymous_variant,p.=,ENST00000475133,;							LOW	549/2349		DJC16_HUMAN			Transcript			.	ENSP00000365007		CCDS30606.1			1	
DGKB	0	LGGM	GRCh37	7	14661080	14661080	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	67	5	.	.	ENST00000403951.2:c.1210C>A	p.Gln404Lys	p.Q404K	ENST00000403951		404	Cag/Aag	0	1		UPI0000033B9B	0	NA	ENST00000399322		ENSG00000136267	2850		72	0.805		HGNC	p.Q404K		DGKB		SNV							ENST00000403951	protein_coding	getma.org/?cm=var&var=hg19,7,14661080,G,T&fts=all		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF32		Q/K		T	low	1397/6684		getma.org/?cm=msa&ty=f&p=DGKB_HUMAN&rb=362&re=437&var=Q404K	tolerated(0.93)	C9JA18_HUMAN,B7Z3B3_HUMAN				DGKB,missense_variant,p.Gln404Lys,ENST00000403951,;DGKB,missense_variant,p.Gln404Lys,ENST00000399322,NM_004080.2;DGKB,missense_variant,p.Gln404Lys,ENST00000258767,;DGKB,missense_variant,p.Gln403Lys,ENST00000402815,;DGKB,missense_variant,p.Gln396Lys,ENST00000407950,;DGKB,missense_variant,p.Gln385Lys,ENST00000444700,;DGKB,missense_variant,p.Gln404Lys,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;DGKB,non_coding_transcript_exon_variant,,ENST00000471732,;DGKB,non_coding_transcript_exon_variant,,ENST00000477401,;							MODERATE	1210/2415	Q404K	DGKB_HUMAN			Transcript		benign(0.041)	.	ENSP00000382260		CCDS47547.1			1	
CR2	0	LGGM	GRCh37	1	207644151	207644151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	60	5	.	.	ENST00000367057.3:c.1292C>A	p.Pro431His	p.P431H	ENST00000367057	NM_001006658.2	431	cCt/cAt	0	1		UPI000013D4F7	0	getma.org/pdb.php?prot=CR2_HUMAN&from=410&to=466&var=P431H	ENST00000367058		ENSG00000117322	2336		65	1.735		HGNC	p.P431H	COSM325061	CR2		SNV			1			1	ENST00000458541	protein_coding	getma.org/?cm=var&var=hg19,1,207644151,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		P/H		A	low	1481/4063		getma.org/?cm=msa&ty=f&p=CR2_HUMAN&rb=410&re=466&var=P431H	deleterious(0)					CR2,missense_variant,p.Pro431His,ENST00000367057,NM_001006658.2;CR2,missense_variant,p.Pro431His,ENST00000367058,NM_001877.4;CR2,missense_variant,p.Pro431His,ENST00000367059,;CR2,missense_variant,p.Pro431His,ENST00000458541,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000475194,;					1		MODERATE	1292/3102	P431H	CR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356025		CCDS1478.1			1	
ZYG11B	0	LGGM	GRCh37	1	53255730	53255730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	71	5	.	.	ENST00000294353.6:c.1325C>A	p.Pro442Gln	p.P442Q	ENST00000294353	NM_024646.2	442	cCa/cAa	0	1	1	UPI00001C1D70	0	NA	ENST00000294353		ENSG00000162378	25820		76	1.7		HGNC	p.P442Q		ZYG11B		SNV							ENST00000443756	protein_coding	getma.org/?cm=var&var=hg19,1,53255730,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF21		P/Q		A	low	1470/8093		getma.org/?cm=msa&ty=f&p=ZY11B_HUMAN&rb=1&re=742&var=P442Q	deleterious(0.01)				YES	ZYG11B,missense_variant,p.Pro442Gln,ENST00000294353,NM_024646.2;ZYG11B,missense_variant,p.Pro442Gln,ENST00000443756,;ZYG11B,missense_variant,p.Pro442Gln,ENST00000545132,;							MODERATE	1325/2235	P442Q	ZY11B_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000294353		CCDS30717.1			1	
PCBP2	0	LGGM	GRCh37	12	53853076	53853076	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	81	5	.	.	ENST00000359462.5:c.264C>A	p.Thr88=	p.T88=	ENST00000359462		88	acC/acA	0	1		UPI00001313C9	0		ENST00000439930		ENSG00000197111	8648		86			HGNC	p.T88T		PCBP2		SNV							ENST00000546463	protein_coding			hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF97		T		A		286/1296				H3BSP4_HUMAN,F8W0G4_HUMAN,F8VTZ0_HUMAN				PCBP2,synonymous_variant,p.=,ENST00000603815,NM_001128912.1,NM_001128911.1,NM_005016.5,NM_031989.4;PCBP2,synonymous_variant,p.=,ENST00000447282,NM_001128913.1,NM_001098620.2;PCBP2,synonymous_variant,p.=,ENST00000437231,NM_001128914.1;PCBP2,synonymous_variant,p.=,ENST00000455667,;PCBP2,synonymous_variant,p.=,ENST00000359462,;PCBP2,synonymous_variant,p.=,ENST00000359282,;PCBP2,synonymous_variant,p.=,ENST00000549863,;PCBP2,synonymous_variant,p.=,ENST00000541275,;PCBP2,synonymous_variant,p.=,ENST00000546463,;PCBP2,synonymous_variant,p.=,ENST00000552819,;PCBP2,synonymous_variant,p.=,ENST00000552296,;PCBP2,synonymous_variant,p.=,ENST00000439930,;PCBP2,synonymous_variant,p.=,ENST00000548933,;PCBP2,synonymous_variant,p.=,ENST00000562264,;PCBP2,synonymous_variant,p.=,ENST00000550520,;PCBP2,synonymous_variant,p.=,ENST00000551104,;PCBP2,upstream_gene_variant,,ENST00000547859,;PCBP2,upstream_gene_variant,,ENST00000553064,;PCBP2,downstream_gene_variant,,ENST00000550192,;PCBP2,downstream_gene_variant,,ENST00000552980,;PCBP2,synonymous_variant,p.=,ENST00000550585,;PCBP2,synonymous_variant,p.=,ENST00000546652,;RP11-793H13.8,non_coding_transcript_exon_variant,,ENST00000547717,;PCBP2,non_coding_transcript_exon_variant,,ENST00000548190,;PCBP2,upstream_gene_variant,,ENST00000547987,;PCBP2,downstream_gene_variant,,ENST00000550910,;PCBP2,upstream_gene_variant,,ENST00000549272,;							LOW	264/1098		PCBP2_HUMAN			Transcript			.	ENSP00000408949		CCDS44901.1			1	
ZMYND11	0	LGGM	GRCh37	10	282813	282813	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000397962.3:c.474G>T	p.Met158Ile	p.M158I	ENST00000397962		158	atG/atT	0	1		UPI0000458A5F	0	NA	ENST00000381591		ENSG00000015171	16966		56	1.39		HGNC	p.M1I		ZMYND11		SNV							ENST00000535374	protein_coding	getma.org/?cm=var&var=hg19,10,282813,G,T&fts=all		Superfamily_domains:SSF47370,SMART_domains:SM00297,hmmpanther:PTHR24102		M/I		T	low	727/4229		getma.org/?cm=msa&ty=f&p=ZMY11_HUMAN&rb=1&re=121&var=M118I	deleterious(0.02)					ZMYND11,start_lost,p.Met1?,ENST00000535374,;ZMYND11,missense_variant,p.Met118Ile,ENST00000309776,NM_001202466.1,NM_006624.5;ZMYND11,missense_variant,p.Met158Ile,ENST00000397962,;ZMYND11,missense_variant,p.Met158Ile,ENST00000381591,;ZMYND11,missense_variant,p.Met158Ile,ENST00000402736,;ZMYND11,missense_variant,p.Met64Ile,ENST00000381607,NM_001202464.1;ZMYND11,missense_variant,p.Met141Ile,ENST00000381584,;ZMYND11,missense_variant,p.Met118Ile,ENST00000381604,;ZMYND11,missense_variant,p.Met118Ile,ENST00000381602,NM_212479.3;ZMYND11,missense_variant,p.Met158Ile,ENST00000509513,;ZMYND11,missense_variant,p.Met158Ile,ENST00000558098,NM_001202467.1,NM_001202468.1;ZMYND11,missense_variant,p.Met104Ile,ENST00000397959,NM_001202465.1;ZMYND11,missense_variant,p.Met104Ile,ENST00000602682,;ZMYND11,missense_variant,p.Met104Ile,ENST00000403354,;ZMYND11,missense_variant,p.Met64Ile,ENST00000545619,;ZMYND11,missense_variant,p.Met104Ile,ENST00000439456,;ZMYND11,missense_variant,p.Met173Ile,ENST00000397955,;ZMYND11,upstream_gene_variant,,ENST00000488275,;							MODERATE	474/1809	M118I	ZMY11_HUMAN			Transcript		benign(0.064)	.	ENSP00000371003		CCDS7052.2			1	
KIAA1244	0	LGGM	GRCh37	6	138657520	138657520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	92	5	.	.	ENST00000251691.4:c.6431C>A	p.Pro2144Gln	p.P2144Q	ENST00000251691	NM_020340.4	2144	cCg/cAg	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		97	0.55		HGNC	p.P2144Q		KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138657520,C,A&fts=all		hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		P/Q		A	neutral	6597/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=2119&re=2177&var=P2144Q	deleterious(0)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Pro2144Gln,ENST00000251691,NM_020340.4;							MODERATE	6431/6534	P2144Q	BIG3_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000251691		CCDS5189.2			1	
FRMPD4	0	LGGM	GRCh37	X	12734578	12734578	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	75	5	.	.	ENST00000380682.1:c.2000C>A	p.Pro667Gln	p.P667Q	ENST00000380682	NM_014728.3	667	cCa/cAa	0	1	1	UPI00001C2066	0	NA	ENST00000380682		ENSG00000169933	29007		80	-0.39		HGNC	p.P667Q		FRMPD4		SNV							ENST00000380682	protein_coding	getma.org/?cm=var&var=hg19,X,12734578,C,A&fts=all		hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3		P/Q		A	neutral	2506/8465		getma.org/?cm=msa&ty=f&p=FRPD4_HUMAN&rb=536&re=1319&var=P667Q	tolerated_low_confidence(1)				YES	FRMPD4,missense_variant,p.Pro667Gln,ENST00000380682,NM_014728.3;							MODERATE	2000/3969	P667Q	FRPD4_HUMAN			Transcript		benign(0.004)	.	ENSP00000370057		CCDS35201.1			1	
SGOL2	0	LGGM	GRCh37	2	201435908	201435908	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	67	5	.	.	ENST00000357799.4:c.839G>T	p.Trp280Leu	p.W280L	ENST00000357799	NM_152524.5	280	tGg/tTg	0	1	1	UPI00001AEBF5	0	NA	ENST00000357799		ENSG00000163535	30812		72	1.5		HGNC	p.W280L		SGOL2		SNV							ENST00000357799	protein_coding	getma.org/?cm=var&var=hg19,2,201435908,G,T&fts=all		hmmpanther:PTHR21577:SF2,hmmpanther:PTHR21577		W/L		T	low	937/4214		getma.org/?cm=msa&ty=f&p=SGOL2_HUMAN&rb=1&re=1257&var=W280L	tolerated(0.25)	C9JW92_HUMAN			YES	SGOL2,missense_variant,p.Trp280Leu,ENST00000357799,NM_152524.5,NM_001160033.1,NM_001160046.1;SGOL2,downstream_gene_variant,,ENST00000409203,;							MODERATE	839/3798	W280L	SGOL2_HUMAN			Transcript		benign(0.022)	.	ENSP00000350447		CCDS42796.1			1	
EPX	0	LGGM	GRCh37	17	56270404	56270404	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	5	.	.	ENST00000225371.5:c.82C>A	p.Pro28Thr	p.P28T	ENST00000225371	NM_000502.4	28	Cct/Act	0	1	1	UPI0000131629	0	NA	ENST00000225371		ENSG00000121053	3423		40	2.095		HGNC	p.P28T		EPX		SNV			1				ENST00000225371	protein_coding	getma.org/?cm=var&var=hg19,17,56270404,C,A&fts=all		hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49		P/T		A	medium	192/2708		getma.org/?cm=msa&ty=f&p=PERE_HUMAN&rb=1&re=144&var=P28T	tolerated(0.25)				YES	EPX,missense_variant,p.Pro28Thr,ENST00000225371,NM_000502.4;							MODERATE	82/2148	P28T	PERE_HUMAN			Transcript		benign(0.003)	.	ENSP00000225371		CCDS11602.1			1	
DYM	0	LGGM	GRCh37	18	46858277	46858277	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	67	5	.	.	ENST00000269445.6:c.720G>T	p.Ser240=	p.S240=	ENST00000269445	NM_017653.3	240	tcG/tcT	0	1	1	UPI00001AE953	0		ENST00000269445		ENSG00000141627	21317		72			HGNC	p.S85S		DYM		SNV			1				ENST00000583280	protein_coding			hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742		S		A		1178/2703				J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN			YES	DYM,synonymous_variant,p.=,ENST00000269445,NM_017653.3;DYM,synonymous_variant,p.=,ENST00000578396,;DYM,synonymous_variant,p.=,ENST00000583280,;DYM,synonymous_variant,p.=,ENST00000584983,;DYM,synonymous_variant,p.=,ENST00000581738,;DYM,synonymous_variant,p.=,ENST00000583225,;DYM,intron_variant,,ENST00000442713,;DYM,non_coding_transcript_exon_variant,,ENST00000580615,;DYM,3_prime_UTR_variant,,ENST00000418472,;							LOW	720/2010		DYM_HUMAN			Transcript			.	ENSP00000269445		CCDS11937.1			1	
VNN1	0	LGGM	GRCh37	6	133014320	133014320	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	54	5	.	.	ENST00000367928.4:c.669G>T	p.Leu223Phe	p.L223F	ENST00000367928	NM_004666.2	223	ttG/ttT	0	1	1	UPI000013C91E	0	getma.org/pdb.php?prot=VNN1_HUMAN&from=27&to=261&var=L223F	ENST00000367928		ENSG00000112299	12705		59	3.605		HGNC	p.L223F		VNN1		SNV							ENST00000367928	protein_coding	getma.org/?cm=var&var=hg19,6,133014320,C,A&fts=all		Gene3D:3.60.110.10,PIRSF_domain:PIRSF011861,PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF4,Superfamily_domains:SSF56317		L/F		A	high	683/3106		getma.org/?cm=msa&ty=f&p=VNN1_HUMAN&rb=27&re=261&var=L223F	deleterious(0)				YES	VNN1,missense_variant,p.Leu223Phe,ENST00000367928,NM_004666.2;							MODERATE	669/1542	L223F	VNN1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000356905		CCDS5159.1			1	
CR1	0	LGGM	GRCh37	1	207793387	207793387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	82	5	.	.	ENST00000367049.4:c.7229C>A	p.Pro2410His	p.P2410H	ENST00000367049	NM_000651.4	2410	cCt/cAt	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1909&to=1965&var=P1960H	ENST00000367051		ENSG00000203710	2334		87	2.34		HGNC	p.P1960H		CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207793387,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		P/H		A	medium	5990/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1909&re=1965&var=P1960H	deleterious(0)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Pro2410His,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Pro1960His,ENST00000367053,;CR1,missense_variant,p.Pro1960His,ENST00000367052,;CR1,missense_variant,p.Pro1960His,ENST00000367051,;CR1,missense_variant,p.Pro1960His,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Pro583His,ENST00000529814,;							MODERATE	5879/6120	P1960H	CR1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356018					1	
THRB	0	LGGM	GRCh37	3	24185014	24185014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	5	.	.	ENST00000396671.2:c.716G>T	p.Trp239Leu	p.W239L	ENST00000396671	NM_001128176.2	239	tGg/tTg	0	1		UPI0000136D26	0	getma.org/pdb.php?prot=THB_HUMAN&from=177&to=256&var=W239L	ENST00000356447		ENSG00000151090	11799		51	2.87		HGNC	p.W254L		THRB		SNV			1				ENST00000280696	protein_coding	getma.org/?cm=var&var=hg19,3,24185014,C,A&fts=all		Gene3D:1.10.565.10,Prints_domain:PR00546,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF210,Superfamily_domains:SSF48508		W/L		A	medium	1001/6341		getma.org/?cm=msa&ty=f&p=THB_HUMAN&rb=177&re=256&var=W239L	tolerated(0.34)	J3KR21_HUMAN,F1D8N7_HUMAN,C9JZS5_HUMAN,C9JTN1_HUMAN,C9JNQ4_HUMAN,C9JJM3_HUMAN,C9JHC2_HUMAN				THRB,missense_variant,p.Trp239Leu,ENST00000396671,NM_001128176.2;THRB,missense_variant,p.Trp239Leu,ENST00000356447,NM_001128177.1,NM_000461.4;THRB,missense_variant,p.Trp239Leu,ENST00000416420,NM_001252634.1;THRB,missense_variant,p.Trp254Leu,ENST00000280696,;THRB,downstream_gene_variant,,ENST00000413780,;							MODERATE	716/1386	W239L	THB_HUMAN			Transcript		benign(0.079)	.	ENSP00000348827		CCDS2641.1			1	
ZNF552	0	LGGM	GRCh37	19	58324749	58324749	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000391701.1:c.73C>A	p.Gln25Lys	p.Q25K	ENST00000391701	NM_024762.3	25	Cag/Aag	0	1	1	UPI0000202D72	0	getma.org/pdb.php?prot=ZN552_HUMAN&from=14&to=54&var=Q25K	ENST00000391701		ENSG00000178935	26135		78	1.7		HGNC	p.Q25K		ZNF552		SNV							ENST00000391701	protein_coding	getma.org/?cm=var&var=hg19,19,58324749,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF209,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Q/K		T	low	243/2352		getma.org/?cm=msa&ty=f&p=ZN552_HUMAN&rb=14&re=54&var=Q25K	tolerated(0.38)				YES	ZNF552,missense_variant,p.Gln25Lys,ENST00000391701,NM_024762.3;ZNF552,missense_variant,p.Gln9Lys,ENST00000594473,;ZNF586,intron_variant,,ENST00000599802,;ZNF586,intron_variant,,ENST00000598885,;ZNF552,3_prime_UTR_variant,,ENST00000596248,;ZNF552,non_coding_transcript_exon_variant,,ENST00000600397,;							MODERATE	73/1224	Q25K	ZN552_HUMAN			Transcript		benign(0.192)	.	ENSP00000375582		CCDS12963.1			1	
TAS2R60	0	LGGM	GRCh37	7	143140973	143140973	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	68	5	.	.	ENST00000332690.1:c.428G>T	p.Trp143Leu	p.W143L	ENST00000332690	NM_177437.1	143	tGg/tTg	0	1	1	UPI000000D824	0	NA	ENST00000332690		ENSG00000185899	20639		73	2.175		HGNC	p.W143L		TAS2R60		SNV							ENST00000332690	protein_coding	getma.org/?cm=var&var=hg19,7,143140973,G,T&fts=all		Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF32,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		W/L		T	medium	428/957		getma.org/?cm=msa&ty=f&p=T2R60_HUMAN&rb=12&re=310&var=W143L	tolerated(0.07)	Q50KC8_HUMAN			YES	TAS2R60,missense_variant,p.Trp143Leu,ENST00000332690,NM_177437.1;EPHA1-AS1,intron_variant,,ENST00000429289,;							MODERATE	428/957	W143L	T2R60_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000327724		CCDS5885.1			1	
SYTL2	0	LGGM	GRCh37	11	85438632	85438632	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	82	5	.	.				ENST00000354566	NM_206927.2			0	1		UPI0001AADE5A	0		ENST00000528231		ENSG00000137501	15585		87			HGNC	p.S147X		SYTL2		SNV							ENST00000359152	protein_coding							T		-/3536				Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,stop_gained,p.Ser147Ter,ENST00000359152,NM_206928.2;SYTL2,5_prime_UTR_variant,,ENST00000525423,;SYTL2,intron_variant,,ENST00000316356,;SYTL2,intron_variant,,ENST00000389960,NM_032943.3;SYTL2,intron_variant,,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,intron_variant,,ENST00000527523,;SYTL2,intron_variant,,ENST00000524452,;SYTL2,upstream_gene_variant,,ENST00000354566,NM_206927.2;SYTL2,upstream_gene_variant,,ENST00000530351,;SYTL2,upstream_gene_variant,,ENST00000389959,;							MODIFIER	-/2805		SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
LAMB4	0	LGGM	GRCh37	7	107749644	107749644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	55	5	.	.	ENST00000388781.3:c.374G>T	p.Arg125Leu	p.R125L	ENST00000388781	NM_007356.2	125	cGg/cTg	0	1		UPI0000198CD5	0	getma.org/pdb.php?prot=LAMB4_HUMAN&from=28&to=263&var=R125L	ENST00000205386		ENSG00000091128	6491		60	-0.69		HGNC	p.R125L		LAMB4		SNV							ENST00000414450	protein_coding	getma.org/?cm=var&var=hg19,7,107749644,C,A&fts=all		SMART_domains:SM00136,Pfam_domain:PF00055,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS51117		R/L		A	neutral	454/5857		getma.org/?cm=msa&ty=f&p=LAMB4_HUMAN&rb=28&re=263&var=R125L	deleterious(0)	C9JM08_HUMAN				LAMB4,missense_variant,p.Arg125Leu,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Arg125Leu,ENST00000205386,;LAMB4,missense_variant,p.Arg125Leu,ENST00000388780,;LAMB4,missense_variant,p.Arg125Leu,ENST00000418464,;LAMB4,missense_variant,p.Arg125Leu,ENST00000414450,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;							MODERATE	374/5286	R125L	LAMB4_HUMAN			Transcript		benign(0.139)	.	ENSP00000205386		CCDS34732.1			1	
ADAM28	0	LGGM	GRCh37	8	24193102	24193102	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	12	5	.	.	ENST00000265769.4:c.1515G>A	p.Leu505=	p.L505=	ENST00000265769	NM_014265.4	505	ttG/ttA	0	1	1	UPI000049E0B9	0		ENST00000265769		ENSG00000042980	206		17			HGNC	p.L505L		ADAM28		SNV							ENST00000265769	protein_coding			hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF08516,SMART_domains:SM00608		L		A		1625/7052				E5RGY1_HUMAN			YES	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,;ADAM28,synonymous_variant,p.=,ENST00000521629,;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,downstream_gene_variant,,ENST00000518516,;ADAM28,downstream_gene_variant,,ENST00000521110,;ADAM28,3_prime_UTR_variant,,ENST00000520448,;							LOW	1515/2328		ADA28_HUMAN			Transcript			.	ENSP00000265769		CCDS34865.1			1	
IL22	0	LGGM	GRCh37	12	68646291	68646291	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	5	.	.	ENST00000538666.1:c.389G>A	p.Ser130Asn	p.S130N	ENST00000538666		130	aGc/aAc	0	1		UPI0000034E46	0	getma.org/pdb.php?prot=IL22_HUMAN&from=1&to=178&var=S130N	ENST00000328087		ENSG00000127318	14900		28	2.28		HGNC	p.S130N		IL22		SNV							ENST00000538666	protein_coding	getma.org/?cm=var&var=hg19,12,68646291,C,T&fts=all		hmmpanther:PTHR14263:SF2,hmmpanther:PTHR14263,Pfam_domain:PF14565,Gene3D:1.20.1250.10,PIRSF_domain:PIRSF037726,Superfamily_domains:SSF47266		S/N		T	medium	442/1147		getma.org/?cm=msa&ty=f&p=IL22_HUMAN&rb=1&re=178&var=S130N	tolerated(0.15)					IL22,missense_variant,p.Ser130Asn,ENST00000538666,;IL22,missense_variant,p.Ser130Asn,ENST00000328087,NM_020525.4;							MODERATE	389/540	S130N	IL22_HUMAN			Transcript		benign(0.005)	.	ENSP00000329384		CCDS8982.1			1	
TBC1D32	0	LGGM	GRCh37	6	121600327	121600327	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000398212.2:c.1673C>A	p.Ser558Tyr	p.S558Y	ENST00000398212	NM_152730.4	558	tCt/tAt	0	1	1	UPI0000E67203	0	NA	ENST00000398212		ENSG00000146350	21485		93	2.095		HGNC	p.S558Y		TBC1D32		SNV							ENST00000275159	protein_coding	getma.org/?cm=var&var=hg19,6,121600327,G,T&fts=all		hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961		S/Y		T	medium	1723/3824		getma.org/?cm=msa&ty=f&p=BROMI_HUMAN&rb=4&re=1255&var=S558Y	deleterious(0)	A2A304_HUMAN			YES	TBC1D32,missense_variant,p.Ser558Tyr,ENST00000275159,;TBC1D32,missense_variant,p.Ser558Tyr,ENST00000398212,NM_152730.4;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;							MODERATE	1673/3774	S558Y	BROMI_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000381270		CCDS43501.1			1	
ANK2	0	LGGM	GRCh37	4	114278785	114278785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000357077.4:c.9011G>T	p.Trp3004Leu	p.W3004L	ENST00000357077	NM_001148.4	3004	tGg/tTg	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		56	1.7		HGNC	p.W2971L		ANK2		SNV			1				ENST00000264366	protein_coding	getma.org/?cm=var&var=hg19,4,114278785,G,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		W/L		T	low	9064/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1998&re=3536&var=W3004L		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Trp3004Leu,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Trp2971Leu,ENST00000264366,;ANK2,missense_variant,p.Trp14Leu,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,downstream_gene_variant,,ENST00000503423,;ANK2,intron_variant,,ENST00000508007,;							MODERATE	9011/11874	W3004L	ANK2_HUMAN			Transcript		benign(0.197)	.	ENSP00000349588		CCDS3702.1			1	
IGSF10	0	LGGM	GRCh37	3	151160893	151160893	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	5	.	.	ENST00000282466.3:c.5842C>A	p.Gln1948Lys	p.Q1948K	ENST00000282466	NM_178822.4	1948	Cag/Aag	0	1	1	UPI00001D629A	0	getma.org/pdb.php?prot=IGS10_HUMAN&from=1941&to=2032&var=Q1948K	ENST00000282466		ENSG00000152580	26384		68	-0.045		HGNC	p.Q16K		IGSF10		SNV							ENST00000489791	protein_coding	getma.org/?cm=var&var=hg19,3,151160893,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/K		T	neutral	5842/11067		getma.org/?cm=msa&ty=f&p=IGS10_HUMAN&rb=1941&re=2032&var=Q1948K	deleterious(0.04)				YES	IGSF10,missense_variant,p.Gln1948Lys,ENST00000282466,NM_178822.4,NM_001178145.1,NM_001178146.1;IGSF10,missense_variant,p.Gln16Lys,ENST00000489791,;IGSF10,upstream_gene_variant,,ENST00000495443,;IGSF10,upstream_gene_variant,,ENST00000493841,;							MODERATE	5842/7872	Q1948K	IGS10_HUMAN			Transcript		benign(0.217)	.	ENSP00000282466		CCDS3160.1			1	
KMT2A	0	LGGM	GRCh37	11	118343150	118343150	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	72	5	.	.	ENST00000534358.1:c.1276C>A	p.Arg426=	p.R426=	ENST00000534358	NM_005933.3	426	Cgg/Agg	0	1		UPI00001BE8DF	0		ENST00000389506		ENSG00000118058	7132		77			HGNC	p.R426R		KMT2A		SNV			1				ENST00000354520	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		R		A		1276/13655				Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,synonymous_variant,p.=,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,synonymous_variant,p.=,ENST00000354520,;KMT2A,synonymous_variant,p.=,ENST00000389506,;KMT2A,synonymous_variant,p.=,ENST00000531904,;KMT2A,intron_variant,,ENST00000533790,;KMT2A,intron_variant,,ENST00000527869,;							LOW	1276/11910		KMT2A_HUMAN			Transcript			.	ENSP00000374157		CCDS31686.1			1	
DDX21	0	LGGM	GRCh37	10	70728783	70728783	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	5	.	.	ENST00000354185.4:c.1142G>T	p.Trp381Leu	p.W381L	ENST00000354185	NM_001256910.1	381	tGg/tTg	0	1	1	UPI00001A92E8	0	getma.org/pdb.php?prot=DDX21_HUMAN&from=210&to=385&var=W381L	ENST00000354185		ENSG00000165732	2744		56	2.04		HGNC	p.W381L		DDX21		SNV							ENST00000354185	protein_coding	getma.org/?cm=var&var=hg19,10,70728783,G,T&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF197,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540		W/L		T	medium	1240/4711		getma.org/?cm=msa&ty=f&p=DDX21_HUMAN&rb=210&re=385&var=W381L	deleterious(0)	Q8NI92_HUMAN			YES	DDX21,missense_variant,p.Trp381Leu,ENST00000354185,NM_001256910.1,NM_004728.3;RN7SL373P,downstream_gene_variant,,ENST00000577512,;							MODERATE	1142/2352	W381L	DDX21_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000346120		CCDS31211.1			1	
ZNF33A	0	LGGM	GRCh37	10	38344055	38344055	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	5	.	.	ENST00000374618.3:c.1003G>T	p.Gly335Trp	p.G335W	ENST00000374618	NM_001278178.1	335	Ggg/Tgg	0	1		UPI000000D888	0	getma.org/pdb.php?prot=ZN33A_HUMAN&from=328&to=350&var=G334W	ENST00000458705		ENSG00000189180	13096		95	3.355		HGNC	p.G335W		ZNF33A		SNV							ENST00000374618	protein_coding	getma.org/?cm=var&var=hg19,10,38344055,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,PROSITE_patterns:PS00028,Pfam_domain:PF13912,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	medium	1158/6084		getma.org/?cm=msa&ty=f&p=ZN33A_HUMAN&rb=308&re=370&var=G334W	deleterious(0)					ZNF33A,missense_variant,p.Gly335Trp,ENST00000374618,NM_001278178.1,NM_001278177.1,NM_001278174.1,NM_001278173.1,NM_001278176.1,NM_001278175.1,NM_001278179.1,NM_001278171.1,NM_006954.1,NM_006974.2;ZNF33A,missense_variant,p.Gly334Trp,ENST00000458705,;ZNF33A,missense_variant,p.Gly341Trp,ENST00000432900,NM_001278170.1;ZNF33A,missense_variant,p.Gly334Trp,ENST00000307441,;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,downstream_gene_variant,,ENST00000478556,;							MODERATE	1000/2433	G334W	ZN33A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000387713		CCDS31182.1			1	
NAV2	0	LGGM	GRCh37	11	20089886	20089886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	5	.	.	ENST00000396087.3:c.5093G>T	p.Arg1698Leu	p.R1698L	ENST00000396087	NM_001244963.1	1698	cGg/cTg	0	1	1	UPI00001E0580	0	NA	ENST00000396087		ENSG00000166833	15997		95	1.77		HGNC	p.R1578L		NAV2		SNV							ENST00000360655	protein_coding	getma.org/?cm=var&var=hg19,11,20089886,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		R/L		T	low	5192/7882		getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=731&re=2028&var=R1698L	deleterious(0)				YES	NAV2,missense_variant,p.Arg1642Leu,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Arg1642Leu,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Arg1578Leu,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Arg1629Leu,ENST00000540292,;NAV2,missense_variant,p.Arg1627Leu,ENST00000527559,;NAV2,missense_variant,p.Arg1698Leu,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Arg706Leu,ENST00000311043,;NAV2,missense_variant,p.Arg706Leu,ENST00000533917,NM_001111019.2;NAV2,missense_variant,p.Arg691Leu,ENST00000525322,;							MODERATE	5093/7467	R1698L	NAV2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000379396		CCDS58126.1			1	
PPM1B	0	LGGM	GRCh37	2	44428948	44428948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	5	.	.	ENST00000282412.4:c.610G>A	p.Asp204Asn	p.D204N	ENST00000282412	NM_002706.4	204	Gac/Aac	0	1	1	UPI0000130FE7	0	getma.org/pdb.php?prot=PPM1B_HUMAN&from=22&to=288&var=D204N	ENST00000282412		ENSG00000138032	9276		42	3.385		HGNC	p.D204N		PPM1B		SNV			1				ENST00000419807	protein_coding	getma.org/?cm=var&var=hg19,2,44428948,G,A&fts=all		hmmpanther:PTHR13832:SF244,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606		D/N		A	medium	1022/2606		getma.org/?cm=msa&ty=f&p=PPM1B_HUMAN&rb=22&re=288&var=D204N	deleterious(0)	C9JIR6_HUMAN			YES	PPM1B,missense_variant,p.Asp204Asn,ENST00000378551,NM_177968.2;PPM1B,missense_variant,p.Asp204Asn,ENST00000409432,NM_001033557.1;PPM1B,missense_variant,p.Asp204Asn,ENST00000282412,NM_002706.4;PPM1B,missense_variant,p.Asp204Asn,ENST00000419807,;PPM1B,missense_variant,p.Asp204Asn,ENST00000409895,NM_001033556.1;PPM1B,missense_variant,p.Asp204Asn,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,;							MODERATE	610/1440	D204N	PPM1B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000282412		CCDS1817.1			1	
OR2A12	0	LGGM	GRCh37	7	143792421	143792421	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	37	5	.	.	ENST00000408949.2:c.221C>A	p.Ser74Ter	p.S74*	ENST00000408949	NM_001004135.1	74	tCg/tAg	0	1	1	UPI0000061E6F	0	NA	ENST00000408949		ENSG00000221858	15082		42	0		HGNC	p.S74X		OR2A12		SNV							ENST00000408949	protein_coding	getma.org/?cm=var&var=hg19,7,143792421,C,A&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		S/*		A	NA	281/1046		NA		A4D2G4_HUMAN			YES	OR2A12,stop_gained,p.Ser74Ter,ENST00000408949,NM_001004135.1;							HIGH	221/933	S74*	O2A12_HUMAN			Transcript			.	ENSP00000386174		CCDS43670.1			1	
ATR	0	LGGM	GRCh37	3	142204050	142204050	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	5	.	.	ENST00000350721.4:c.6153C>A	p.Pro2051=	p.P2051=	ENST00000350721	NM_001184.3	2051	ccC/ccA	0	1	1	UPI0000031A31	0		ENST00000350721		ENSG00000175054	882		95			HGNC	p.P2051P		ATR		SNV			1				ENST00000350721	protein_coding			PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Pfam_domain:PF02259,Superfamily_domains:SSF48371		P		T		6275/8249							YES	ATR,synonymous_variant,p.=,ENST00000350721,NM_001184.3;ATR,synonymous_variant,p.=,ENST00000383101,;							LOW	6153/7935		ATR_HUMAN			Transcript			.	ENSP00000343741		CCDS3124.1			1	
ZNF451	0	LGGM	GRCh37	6	57012673	57012673	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	71	5	.	.	ENST00000370706.4:c.1790C>A	p.Pro597Gln	p.P597Q	ENST00000370706	NM_001031623.2	597	cCg/cAg	0	1	1	UPI000004A571	0	NA	ENST00000370706		ENSG00000112200	21091		76	1.935		HGNC	p.P597Q	rs149876604	ZNF451	6.06E-05	SNV	T:0.002						ENST00000370706	protein_coding	getma.org/?cm=var&var=hg19,6,57012673,C,A&fts=all	T:0	hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF436		P/Q	T:0.0053	A	medium	2034/5268		getma.org/?cm=msa&ty=f&p=ZN451_HUMAN&rb=477&re=605&var=P597Q	deleterious(0.04)	Q96JY2_HUMAN,D6RAV4_HUMAN	T:0.0029	T:0	YES	ZNF451,missense_variant,p.Pro597Gln,ENST00000370706,NM_001031623.2;ZNF451,missense_variant,p.Pro597Gln,ENST00000357489,NM_015555.2;ZNF451,missense_variant,p.Pro597Gln,ENST00000491832,;RP11-203B9.4,non_coding_transcript_exon_variant,,ENST00000589549,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000592500,;RP11-203B9.4,downstream_gene_variant,,ENST00000589263,;RP11-203B9.4,downstream_gene_variant,,ENST00000586466,;ZNF451,non_coding_transcript_exon_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,upstream_gene_variant,,ENST00000508548,;		T:0.0014					MODERATE	1790/3186	P597Q	ZN451_HUMAN		T:0.005	Transcript		possibly_damaging(0.607)	.	ENSP00000359740	8.24E-06	CCDS43477.1		T:0	1	
MYBPC2	0	LGGM	GRCh37	19	50958465	50958465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	5	.	.	ENST00000357701.5:c.2115G>T	p.Glu705Asp	p.E705D	ENST00000357701	NM_004533.3	705	gaG/gaT	0	1	1	UPI000013C628	0	getma.org/pdb.php?prot=MYPC2_HUMAN&from=640&to=725&var=E705D	ENST00000357701		ENSG00000086967	7550		90	2.065		HGNC	p.E705D		MYBPC2		SNV							ENST00000357701	protein_coding	getma.org/?cm=var&var=hg19,19,50958465,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF56,SMART_domains:SM00060,Superfamily_domains:SSF49265		E/D		T	medium	2166/3593		getma.org/?cm=msa&ty=f&p=MYPC2_HUMAN&rb=640&re=725&var=E705D	deleterious(0.03)				YES	MYBPC2,missense_variant,p.Glu705Asp,ENST00000357701,NM_004533.3;							MODERATE	2115/3426	E705D	MYPC2_HUMAN			Transcript		benign(0.4)	.	ENSP00000350332		CCDS46152.1			1	
ATHL1	0	LGGM	GRCh37	11	294642	294642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	55	5	.	.	ENST00000409548.2:c.2107G>T	p.Gly703Trp	p.G703W	ENST00000409548	NM_025092.4	703	Ggg/Tgg	0	1	1	UPI0000EE80CE	0	NA	ENST00000409548		ENSG00000142102	26210		60	0.69		HGNC	p.G730W		ATHL1		SNV							ENST00000409479	protein_coding	getma.org/?cm=var&var=hg19,11,294642,G,T&fts=all		hmmpanther:PTHR11051,hmmpanther:PTHR11051:SF10		G/W		T	neutral	2222/3687		getma.org/?cm=msa&ty=f&p=ATHL1_HUMAN&rb=610&re=737&var=G703W	deleterious_low_confidence(0)				YES	ATHL1,missense_variant,p.Gly703Trp,ENST00000409548,NM_025092.4;ATHL1,missense_variant,p.Gly730Trp,ENST00000409479,;ATHL1,missense_variant,p.Gly455Trp,ENST00000409655,;ATHL1,missense_variant,p.Gly164Trp,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,;							MODERATE	2107/2214	G703W	ATHL1_HUMAN			Transcript		benign(0.339)	.	ENSP00000387185		CCDS31322.2			1	
LPHN3	0	LGGM	GRCh37	4	62598691	62598691	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	5	.	.	ENST00000514591.1:c.614G>T	p.Arg205Met	p.R205M	ENST00000514591		205	aGg/aTg	0	1	1	UPI00016278EF	0	NA	ENST00000514591		ENSG00000150471	20974		90	2.155		HGNC	p.R273M		LPHN3		SNV							ENST00000506746	protein_coding	getma.org/?cm=var&var=hg19,4,62598691,G,T&fts=all		PROSITE_profiles:PS51132,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02191,SMART_domains:SM00284		R/M		T	medium	943/6297		getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=138&re=393&var=R205M	deleterious(0)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Arg205Met,ENST00000512091,;LPHN3,missense_variant,p.Arg205Met,ENST00000514591,;LPHN3,missense_variant,p.Arg205Met,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Arg273Met,ENST00000509896,;LPHN3,missense_variant,p.Arg273Met,ENST00000511324,;LPHN3,missense_variant,p.Arg273Met,ENST00000508693,;LPHN3,missense_variant,p.Arg273Met,ENST00000507164,;LPHN3,missense_variant,p.Arg273Met,ENST00000506720,;LPHN3,missense_variant,p.Arg273Met,ENST00000506746,;LPHN3,missense_variant,p.Arg273Met,ENST00000507625,;LPHN3,missense_variant,p.Arg205Met,ENST00000506700,;LPHN3,missense_variant,p.Arg205Met,ENST00000504896,;LPHN3,missense_variant,p.Arg205Met,ENST00000514157,;LPHN3,missense_variant,p.Arg205Met,ENST00000508946,;LPHN3,missense_variant,p.Arg205Met,ENST00000514996,;							MODERATE	614/4410	R205M				Transcript		probably_damaging(1)	.	ENSP00000422533		CCDS54768.1			1	
DQX1	0	LGGM	GRCh37	2	74751391	74751391	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	48	5	.	.	ENST00000404568.3:c.475C>A	p.Arg159=	p.R159=	ENST00000404568	NM_133637.2	159	Cga/Aga	0	1		UPI0000208758	0		ENST00000393951		ENSG00000144045	20410		53			HGNC	p.R159R		DQX1		SNV							ENST00000404568	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934,PROSITE_profiles:PS51192		R		T		546/2540				C9J0W1_HUMAN				DQX1,synonymous_variant,p.=,ENST00000404568,NM_133637.2;DQX1,synonymous_variant,p.=,ENST00000393951,;DQX1,synonymous_variant,p.=,ENST00000451518,;AUP1,downstream_gene_variant,,ENST00000377526,NM_181575.3;DQX1,upstream_gene_variant,,ENST00000495597,;DQX1,downstream_gene_variant,,ENST00000498552,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;DQX1,upstream_gene_variant,,ENST00000418139,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000463900,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000486234,;AUP1,downstream_gene_variant,,ENST00000464887,;DQX1,upstream_gene_variant,,ENST00000483555,;AUP1,downstream_gene_variant,,ENST00000472800,;AUP1,downstream_gene_variant,,ENST00000462297,;							LOW	475/2154		DQX1_HUMAN			Transcript			.	ENSP00000377523		CCDS1949.2			1	
PRPF31	0	LGGM	GRCh37	19	54625897	54625897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000321030.4:c.344G>T	p.Arg115Leu	p.R115L	ENST00000321030	NM_015629.3	115	cGg/cTg	0	1	1	UPI000013D407	0	getma.org/pdb.php?prot=PRP31_HUMAN&from=92&to=144&var=R115L	ENST00000321030		ENSG00000105618	15446		93	3.335		HGNC	p.R115L		PRPF31		SNV			1				ENST00000447810	protein_coding	getma.org/?cm=var&var=hg19,19,54625897,G,T&fts=all		hmmpanther:PTHR13904,Pfam_domain:PF08060,SMART_domains:SM00931,Superfamily_domains:SSF89124		R/L		T	medium	693/2126		getma.org/?cm=msa&ty=f&p=PRP31_HUMAN&rb=92&re=144&var=R115L	deleterious(0)	F1T0A5_HUMAN,E7EU94_HUMAN,E7ESX0_HUMAN,E7EN72_HUMAN			YES	PRPF31,missense_variant,p.Arg115Leu,ENST00000321030,NM_015629.3;PRPF31,missense_variant,p.Arg115Leu,ENST00000391755,;PRPF31,missense_variant,p.Arg115Leu,ENST00000419967,;PRPF31,missense_variant,p.Arg115Leu,ENST00000445811,;PRPF31,missense_variant,p.Arg115Leu,ENST00000445124,;PRPF31,missense_variant,p.Arg115Leu,ENST00000447810,;AC012314.8,non_coding_transcript_exon_variant,,ENST00000452097,;PRPF31,non_coding_transcript_exon_variant,,ENST00000498612,;PRPF31,non_coding_transcript_exon_variant,,ENST00000466404,;PRPF31,downstream_gene_variant,,ENST00000467851,;							MODERATE	344/1500	R115L	PRP31_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000324122		CCDS12879.1			1	
TGFBI	0	LGGM	GRCh37	5	135383022	135383022	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	91	5	.	.	ENST00000442011.2:c.684G>T	p.Val228=	p.V228=	ENST00000442011	NM_000358.2	228	gtG/gtT	0	1	1	UPI0000000C6A	0		ENST00000442011		ENSG00000120708	11771		96			HGNC	p.V228V		TGFBI		SNV			1				ENST00000305126	protein_coding			PROSITE_profiles:PS50213,hmmpanther:PTHR10900:SF74,hmmpanther:PTHR10900,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Superfamily_domains:SSF82153		V		T		845/2804				D6RBX4_HUMAN,C7FFS5_HUMAN			YES	TGFBI,synonymous_variant,p.=,ENST00000442011,NM_000358.2;TGFBI,synonymous_variant,p.=,ENST00000305126,;TGFBI,synonymous_variant,p.=,ENST00000508767,;TGFBI,upstream_gene_variant,,ENST00000514554,;TGFBI,upstream_gene_variant,,ENST00000604555,;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,upstream_gene_variant,,ENST00000509749,;							LOW	684/2052		BGH3_HUMAN			Transcript			.	ENSP00000416330		CCDS47266.1			1	
FCGR1BP	0	LGGM	GRCh37	1	120930235	120930235	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	61	5	.	.	ENST00000369384.4:c.366G>T	p.Leu122Phe	p.L122F	ENST00000369384	NM_001017986.3	122	ttG/ttT	0	1	1	UPI0000071A38	0	getma.org/pdb.php?prot=FCGRC_HUMAN&from=104&to=187&var=L122F	ENST00000369384		ENSG00000198019	3614		66	3.36		HGNC	p.L122F		FCGR1B		SNV							ENST00000369384	protein_coding	getma.org/?cm=var&var=hg19,1,120930235,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF11,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/F		A	medium	409/1044		getma.org/?cm=msa&ty=f&p=FCGRC_HUMAN&rb=104&re=187&var=L122F	deleterious(0)				YES	FCGR1B,missense_variant,p.Leu122Phe,ENST00000369384,NM_001017986.3;FCGR1B,missense_variant,p.Leu30Phe,ENST00000369383,NM_001004340.3;RP11-439A17.9,intron_variant,,ENST00000457996,;RP11-439A17.10,intron_variant,,ENST00000426275,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000472543,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000471609,;FCGR1B,non_coding_transcript_exon_variant,,ENST00000369178,;FCGR1B,upstream_gene_variant,,ENST00000466915,;							MODERATE	366/843	L122F	FCGRB_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000358391		CCDS30821.1			1	
PUM2	0	LGGM	GRCh37	2	20482852	20482852	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	64	5	.	.	ENST00000338086.5:c.1576A>C	p.Ser526Arg	p.S526R	ENST00000338086	NM_015317.1	526	Agc/Cgc	0	1	1	UPI0000001665	0	NA	ENST00000338086		ENSG00000055917	14958		69	1.355		HGNC	p.S526R		PUM2		SNV							ENST00000319801	protein_coding	getma.org/?cm=var&var=hg19,2,20482852,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12537:SF52,hmmpanther:PTHR12537		S/R		G	low	1599/6112		getma.org/?cm=msa&ty=f&p=PUM2_HUMAN&rb=1&re=702&var=S526R	deleterious(0)	C9JW01_HUMAN,C9JE24_HUMAN,B4E2B6_HUMAN			YES	PUM2,missense_variant,p.Ser526Arg,ENST00000361078,;PUM2,missense_variant,p.Ser526Arg,ENST00000338086,NM_015317.1,NM_001282752.1;PUM2,missense_variant,p.Ser526Arg,ENST00000319801,NM_001282791.1,NM_001282790.1;PUM2,missense_variant,p.Ser417Arg,ENST00000440577,;PUM2,missense_variant,p.Ser526Arg,ENST00000403432,;PUM2,missense_variant,p.Ser470Arg,ENST00000536417,;							MODERATE	1576/3195	S526R	PUM2_HUMAN			Transcript		benign(0.169)	.	ENSP00000338173		CCDS1698.1			1	
LBR	0	LGGM	GRCh37	1	225607002	225607002	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	66	5	.	.	ENST00000338179.2:c.603C>A	p.Pro201=	p.P201=	ENST00000338179	NM_194442.2	201	ccC/ccA	0	1		UPI000012E256	0		ENST00000272163		ENSG00000143815	6518		71			HGNC	p.P201P		LBR		SNV			1				ENST00000338179	protein_coding			Pfam_domain:PF01222,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32		P		T		699/3745				C9JXK0_HUMAN,C9JES9_HUMAN				LBR,synonymous_variant,p.=,ENST00000338179,NM_194442.2;LBR,synonymous_variant,p.=,ENST00000272163,NM_002296.3;LBR,synonymous_variant,p.=,ENST00000425080,;AC092811.1,downstream_gene_variant,,ENST00000366845,;LBR,downstream_gene_variant,,ENST00000421383,;LBR,non_coding_transcript_exon_variant,,ENST00000487054,;LBR,downstream_gene_variant,,ENST00000488632,;							LOW	603/1848		LBR_HUMAN			Transcript			.	ENSP00000272163		CCDS1545.1			1	
ANKS1A	0	LGGM	GRCh37	6	35053553	35053553	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	5	.	.	ENST00000360359.3:c.3143A>G	p.Tyr1048Cys	p.Y1048C	ENST00000360359	NM_015245.2	1048	tAc/tGc	0	1	1	UPI00001C1E4D	0	getma.org/pdb.php?prot=ANS1A_HUMAN&from=942&to=1068&var=Y1048C	ENST00000360359		ENSG00000064999	20961		18	1.87		HGNC	p.Y1048C		ANKS1A		SNV							ENST00000360359	protein_coding	getma.org/?cm=var&var=hg19,6,35053553,A,G&fts=all		PROSITE_profiles:PS01179,hmmpanther:PTHR24174,Gene3D:2.30.29.30,Pfam_domain:PF00640,SMART_domains:SM00462,Superfamily_domains:SSF50729		Y/C		G	low	3281/6336		getma.org/?cm=msa&ty=f&p=ANS1A_HUMAN&rb=942&re=1068&var=Y1048C	deleterious(0)				YES	ANKS1A,missense_variant,p.Tyr1048Cys,ENST00000360359,NM_015245.2;ANKS1A,intron_variant,,ENST00000535627,;ANKS1A,downstream_gene_variant,,ENST00000470698,;							MODERATE	3143/3405	Y1048C	ANS1A_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000353518		CCDS4798.1			1	
ZNF33B	0	LGGM	GRCh37	10	43088303	43088303	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	61	5	.	.	ENST00000359467.3:c.2095G>T	p.Gly699Trp	p.G699W	ENST00000359467	NM_006955.1	699	Ggg/Tgg	0	1	1	UPI000007257B	0	getma.org/pdb.php?prot=ZN33B_HUMAN&from=679&to=704&var=G699W	ENST00000359467		ENSG00000196693	13097		66	3.03		HGNC	p.G699W		ZNF33B		SNV							ENST00000359467	protein_coding	getma.org/?cm=var&var=hg19,10,43088303,C,A&fts=all		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		G/W		A	medium	2210/5958		getma.org/?cm=msa&ty=f&p=ZN33B_HUMAN&rb=659&re=724&var=G699W	deleterious(0)				YES	ZNF33B,missense_variant,p.Gly699Trp,ENST00000359467,NM_006955.1;ZNF33B,intron_variant,,ENST00000486187,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;							MODERATE	2095/2337	G699W	ZN33B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352444		CCDS7198.1			1	
ZNF354A	0	LGGM	GRCh37	5	178139531	178139531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	64	5	.	.	ENST00000335815.2:c.1348C>A	p.His450Asn	p.H450N	ENST00000335815	NM_005649.2	450	Cac/Aac	0	1	1	UPI000013EB5E	0	getma.org/pdb.php?prot=Z354A_HUMAN&from=450&to=451&var=H450N	ENST00000335815		ENSG00000169131	11628		69	0.165		HGNC	p.H450N		ZNF354A		SNV							ENST00000335815	protein_coding	getma.org/?cm=var&var=hg19,5,178139531,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF146,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/N		T	neutral	1546/2484		getma.org/?cm=msa&ty=f&p=Z354A_HUMAN&rb=420&re=481&var=H450N	tolerated(0.52)	E5RHT5_HUMAN			YES	ZNF354A,missense_variant,p.His450Asn,ENST00000335815,NM_005649.2;ZNF354A,downstream_gene_variant,,ENST00000520331,;							MODERATE	1348/1818	H450N	Z354A_HUMAN			Transcript		benign(0.009)	.	ENSP00000337122		CCDS4438.1			1	
CYB5R1	0	LGGM	GRCh37	1	202932271	202932271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	84	5	.	.	ENST00000367249.4:c.668G>T	p.Arg223Leu	p.R223L	ENST00000367249	NM_016243.2	223	cGg/cTg	0	1	1	UPI0000037787	0	getma.org/pdb.php?prot=NB5R1_HUMAN&from=181&to=289&var=R223L	ENST00000367249		ENSG00000159348	13397		89	2.495		HGNC	p.R223L		CYB5R1		SNV							ENST00000367249	protein_coding	getma.org/?cm=var&var=hg19,1,202932271,C,A&fts=all		Gene3D:3.40.50.80,Pfam_domain:PF00175,Prints_domain:PR00371,Prints_domain:PR00406,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF74,Superfamily_domains:SSF52343		R/L		A	medium	743/1651		getma.org/?cm=msa&ty=f&p=NB5R1_HUMAN&rb=181&re=289&var=R223L	deleterious(0)				YES	CYB5R1,missense_variant,p.Arg223Leu,ENST00000367249,NM_016243.2;CYB5R1,missense_variant,p.Arg155Leu,ENST00000446185,;ADIPOR1,upstream_gene_variant,,ENST00000340990,NM_015999.4;ADIPOR1,upstream_gene_variant,,ENST00000436244,;ADIPOR1,upstream_gene_variant,,ENST00000417068,;ADIPOR1,upstream_gene_variant,,ENST00000426229,;ADIPOR1,upstream_gene_variant,,ENST00000367254,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000497655,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000482572,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000483915,;CYB5R1,downstream_gene_variant,,ENST00000478009,;CYB5R1,downstream_gene_variant,,ENST00000473599,;							MODERATE	668/918	R223L	NB5R1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356218		CCDS1431.1			1	
APPBP2	0	LGGM	GRCh37	17	58529376	58529376	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000083182.3:c.1369C>A	p.Gln457Lys	p.Q457K	ENST00000083182	NM_006380.2	457	Cag/Aag	0	1	1	UPI000006D959	0	NA	ENST00000083182		ENSG00000062725	622		93	-1.01		HGNC	p.Q457K		APPBP2		SNV							ENST00000083182	protein_coding	getma.org/?cm=var&var=hg19,17,58529376,G,T&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF13424,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF114,SMART_domains:SM00028,Superfamily_domains:SSF48452		Q/K		T	neutral	1657/6468		getma.org/?cm=msa&ty=f&p=APBP2_HUMAN&rb=394&re=461&var=Q457K	tolerated(0.91)	K7EIZ9_HUMAN			YES	APPBP2,missense_variant,p.Gln457Lys,ENST00000083182,NM_006380.2,NM_001282476.1;APPBP2,3_prime_UTR_variant,,ENST00000589341,;							MODERATE	1369/1758	Q457K	APBP2_HUMAN			Transcript		benign(0)	.	ENSP00000083182		CCDS32699.1			1	
FN1	0	LGGM	GRCh37	2	216262486	216262486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000354785.4:c.3434C>A	p.Pro1145Gln	p.P1145Q	ENST00000354785		1145	cCa/cAa	0	1		UPI00001AEBF3	0	getma.org/pdb.php?prot=FINC_HUMAN&from=1094&to=1163&var=P1145Q	ENST00000359671		ENSG00000115414	3778		78	1.845		HGNC	p.P1145Q		FN1		SNV			1				ENST00000359671	protein_coding	getma.org/?cm=var&var=hg19,2,216262486,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/Q		T	low	3700/8524		getma.org/?cm=msa&ty=f&p=FINC_HUMAN&rb=1094&re=1163&var=P1145Q	deleterious(0)	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,missense_variant,p.Pro1145Gln,ENST00000354785,;FN1,missense_variant,p.Pro1145Gln,ENST00000323926,NM_212482.1;FN1,missense_variant,p.Pro1145Gln,ENST00000359671,;FN1,missense_variant,p.Pro1145Gln,ENST00000336916,NM_212478.1,NM_002026.2;FN1,missense_variant,p.Pro1145Gln,ENST00000421182,;FN1,missense_variant,p.Pro1145Gln,ENST00000357009,;FN1,missense_variant,p.Pro1145Gln,ENST00000346544,;FN1,missense_variant,p.Pro1145Gln,ENST00000446046,;FN1,missense_variant,p.Pro1145Gln,ENST00000345488,;FN1,missense_variant,p.Pro1145Gln,ENST00000357867,NM_212474.1;FN1,missense_variant,p.Pro1145Gln,ENST00000356005,NM_212476.1;FN1,missense_variant,p.Pro1145Gln,ENST00000443816,;FN1,missense_variant,p.Pro1145Gln,ENST00000432072,;FN1,upstream_gene_variant,,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000492816,;							MODERATE	3434/7161	P1145Q	FINC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352696					1	
TRIM2	0	LGGM	GRCh37	4	154215492	154215492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	21	5	.	.	ENST00000338700.5:c.641C>A	p.Ser214Tyr	p.S214Y	ENST00000338700	NM_015271.3	214	tCt/tAt	0	1		UPI00001373EF	0	NA	ENST00000437508		ENSG00000109654	15974		26	1.39		HGNC	p.S187Y		TRIM2		SNV			1				ENST00000437508	protein_coding	getma.org/?cm=var&var=hg19,4,154215492,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF2,SMART_domains:SM00502		S/Y		A	low	761/3832		getma.org/?cm=msa&ty=f&p=TRIM2_HUMAN&rb=155&re=321&var=S187Y	deleterious(0.01)	C9JVI3_HUMAN,C9J084_HUMAN				TRIM2,missense_variant,p.Ser214Tyr,ENST00000338700,NM_015271.3;TRIM2,missense_variant,p.Ser187Tyr,ENST00000437508,NM_001130067.1;TRIM2,missense_variant,p.Ser101Tyr,ENST00000433687,;TRIM2,downstream_gene_variant,,ENST00000441616,;TRIM2,non_coding_transcript_exon_variant,,ENST00000494872,;TRIM2,intron_variant,,ENST00000479711,;							MODERATE	560/2235	S187Y	TRIM2_HUMAN			Transcript		possibly_damaging(0.492)	.	ENSP00000415812		CCDS47147.1			1	
C1orf74	0	LGGM	GRCh37	1	209956413	209956413	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	79	5	.	.	ENST00000294811.1:c.567G>T	p.Gln189His	p.Q189H	ENST00000294811	NM_152485.2	189	caG/caT	0	1	1	UPI0000073C4E	0	NA	ENST00000294811		ENSG00000162757	26319		84	1.155		HGNC	p.Q189H		C1orf74		SNV							ENST00000294811	protein_coding	getma.org/?cm=var&var=hg19,1,209956413,C,A&fts=all		Pfam_domain:PF14953,hmmpanther:PTHR31366		Q/H		A	low	824/1576		getma.org/?cm=msa&ty=f&p=CA074_HUMAN&rb=24&re=237&var=Q189H	tolerated(0.17)				YES	C1orf74,missense_variant,p.Gln189His,ENST00000294811,NM_152485.2;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;TRAF3IP3,downstream_gene_variant,,ENST00000367024,;TRAF3IP3,downstream_gene_variant,,ENST00000367025,NM_025228.2;TRAF3IP3,downstream_gene_variant,,ENST00000367026,;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000010338,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000477431,;RP3-434O14.8,downstream_gene_variant,,ENST00000430751,;TRAF3IP3,downstream_gene_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,downstream_gene_variant,,ENST00000480569,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000471368,;							MODERATE	567/810	Q189H	CA074_HUMAN			Transcript		benign(0.011)	.	ENSP00000294811		CCDS1491.1			1	
CLTC	0	LGGM	GRCh37	17	57733369	57733369	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	5	.	.	ENST00000269122.3:c.950G>T	p.Gly317Val	p.G317V	ENST00000269122	NM_004859.3	317	gGa/gTa	0	1	1	UPI0000127ABD	0	getma.org/pdb.php?prot=CLH1_HUMAN&from=235&to=330&var=G317V	ENST00000269122		ENSG00000141367	2092		91	2.645		HGNC	p.G317V		CLTC		SNV			1				ENST00000269122	protein_coding	getma.org/?cm=var&var=hg19,17,57733369,G,T&fts=all		hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096		G/V		T	medium	1224/7760		getma.org/?cm=msa&ty=f&p=CLH1_HUMAN&rb=235&re=330&var=G317V	deleterious(0.05)	Q49AL0_HUMAN			YES	CLTC,missense_variant,p.Gly317Val,ENST00000269122,NM_004859.3,NM_001288653.1;CLTC,missense_variant,p.Gly317Val,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,missense_variant,p.Gly17Val,ENST00000483176,;CLTC,non_coding_transcript_exon_variant,,ENST00000472129,;CLTC,downstream_gene_variant,,ENST00000584313,;							MODERATE	950/5028	G317V	CLH1_HUMAN			Transcript		benign(0.15)	.	ENSP00000269122		CCDS32696.1			1	
KIAA0319	0	LGGM	GRCh37	6	24578382	24578382	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	89	5	.	.	ENST00000378214.3:c.1461C>A	p.Pro487=	p.P487=	ENST00000378214	NM_014809.3	487	ccC/ccA	0	1	1	UPI000020D61A	0		ENST00000378214		ENSG00000137261	21580		94			HGNC	p.P487P		KIAA0319		SNV			1				ENST00000543707	protein_coding			Superfamily_domains:SSF49299,SMART_domains:SM00060,SMART_domains:SM00089,Gene3D:2.60.40.670,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF194		P		T		1986/6802							YES	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,;							LOW	1461/3219		K0319_HUMAN			Transcript			.	ENSP00000367459		CCDS34348.1			1	
DSE	0	LGGM	GRCh37	6	116758494	116758494	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	52	5	.	.	ENST00000331677.3:c.2863C>A	p.Gln955Lys	p.Q955K	ENST00000331677		955	Caa/Aaa	0	1	1	UPI0000073CB8	0	NA	ENST00000331677		ENSG00000111817	21144		57	0.895		HGNC	p.Q955K		DSE		SNV			1				ENST00000359564	protein_coding	getma.org/?cm=var&var=hg19,6,116758494,C,A&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3		Q/K		A	low	3307/7237		getma.org/?cm=msa&ty=f&p=DSE_HUMAN&rb=801&re=958&var=Q955K	tolerated_low_confidence(0.07)	B3KY37_HUMAN			YES	DSE,missense_variant,p.Gln955Lys,ENST00000331677,;DSE,missense_variant,p.Gln955Lys,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Gln955Lys,ENST00000359564,NM_013352.2;DSE,missense_variant,p.Gln974Lys,ENST00000537543,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;							MODERATE	2863/2877	Q955K	DSE_HUMAN			Transcript		benign(0.121)	.	ENSP00000332151		CCDS5107.1			1	
ZNF790	0	LGGM	GRCh37	19	37309679	37309679	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	65	5	.	.	ENST00000356725.4:c.1567C>A	p.Arg523=	p.R523=	ENST00000356725	NM_206894.3	523	Cga/Aga	0	1	1	UPI0000160EF0	0		ENST00000356725		ENSG00000197863	33114		70			HGNC	p.R523R		ZNF790		SNV							ENST00000356725	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		T		1688/3037				K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN			YES	ZNF790,synonymous_variant,p.=,ENST00000356725,NM_206894.3,NM_001242802.1;ZNF790,downstream_gene_variant,,ENST00000528994,NM_001242801.1;ZNF790,downstream_gene_variant,,ENST00000586323,NM_001242800.1;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;							LOW	1567/1911		ZN790_HUMAN			Transcript			.	ENSP00000349161		CCDS12496.1			1	
COL9A1	0	LGGM	GRCh37	6	70935637	70935637	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	68	5	.	.	ENST00000357250.6:c.2579C>A	p.Pro860Gln	p.P860Q	ENST00000357250	NM_001851.4	860	cCa/cAa	0	1	1	UPI000020D14B	0	NA	ENST00000357250		ENSG00000112280	2217		73	1.325		HGNC	p.P617Q		COL9A1		SNV			1				ENST00000370499	protein_coding	getma.org/?cm=var&var=hg19,6,70935637,G,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454		P/Q		T	low	2738/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=838&re=901&var=P860Q					YES	COL9A1,missense_variant,p.Pro860Gln,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Pro617Gln,ENST00000320755,NM_078485.3;COL9A1,missense_variant,p.Pro617Gln,ENST00000370499,;RP1-149L1.1,intron_variant,,ENST00000522264,;COL9A1,splice_region_variant,,ENST00000489611,;COL9A1,splice_region_variant,,ENST00000486080,;							MODERATE	2579/2766	P860Q	CO9A1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000349790		CCDS4971.1			1	
DIAPH1	0	LGGM	GRCh37	5	140908380	140908380	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	52	5	.	.	ENST00000398557.4:c.2907G>T	p.Lys969Asn	p.K969N	ENST00000398557	NM_005219.4	969	aaG/aaT	0	1		UPI0001E8F44E	0	getma.org/pdb.php?prot=DIAP1_HUMAN&from=769&to=1146&var=K969N	ENST00000389054		ENSG00000131504	2876		57	1.215		HGNC	p.K945N		DIAPH1		SNV			1				ENST00000398562	protein_coding	getma.org/?cm=var&var=hg19,5,140908380,C,A&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		K/N		A	low	3039/5786		getma.org/?cm=msa&ty=f&p=DIAP1_HUMAN&rb=769&re=1146&var=K969N	tolerated(0.08)	Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E9PEZ3_HUMAN,E7ERW8_HUMAN,E5RJ79_HUMAN				DIAPH1,missense_variant,p.Lys970Asn,ENST00000253811,;DIAPH1,missense_variant,p.Lys969Asn,ENST00000398557,NM_005219.4;DIAPH1,missense_variant,p.Lys966Asn,ENST00000389054,;DIAPH1,missense_variant,p.Lys961Asn,ENST00000398566,;DIAPH1,missense_variant,p.Lys960Asn,ENST00000389057,NM_001079812.2;DIAPH1,missense_variant,p.Lys945Asn,ENST00000398562,;DIAPH1,missense_variant,p.Lys912Asn,ENST00000520569,;DIAPH1,missense_variant,p.Lys957Asn,ENST00000518047,;DIAPH1,upstream_gene_variant,,ENST00000448451,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000494967,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000491754,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000518484,;DIAPH1,upstream_gene_variant,,ENST00000468119,;DIAPH1,3_prime_UTR_variant,,ENST00000521457,;DIAPH1,upstream_gene_variant,,ENST00000476339,;							MODERATE	2898/3810	K969N				Transcript		unknown(0)	.	ENSP00000373706					1	
PCDP1	0	LGGM	GRCh37	2	120395891	120395891	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	5	.	.	ENST00000413369.3:c.2031G>T	p.Leu677Phe	p.L677F	ENST00000413369	NM_001271049.1	677	ttG/ttT	0	1	1	UPI0001D322F9	0	NA	ENST00000413369		ENSG00000163075			75	1.32		Uniprot_gn	p.L677F		PCDP1		SNV							ENST00000413369	protein_coding	getma.org/?cm=var&var=hg19,2,120395891,G,T&fts=all				L/F		T	low	2118/2801		getma.org/?cm=msa&ty=f&p=PCDP1_HUMAN&rb=1&re=838&var=L677F	deleterious(0.04)				YES	PCDP1,missense_variant,p.Leu236Phe,ENST00000443972,;PCDP1,missense_variant,p.Leu391Phe,ENST00000602047,;PCDP1,missense_variant,p.Leu677Phe,ENST00000413369,NM_001271049.1;PCDP1,upstream_gene_variant,,ENST00000434869,;PCDP1,3_prime_UTR_variant,,ENST00000295220,;PCDP1,intron_variant,,ENST00000600951,;							MODERATE	2031/2523	L677F	PCDP1_HUMAN			Transcript		possibly_damaging(0.465)	.	ENSP00000393222		CCDS33282.2			1	
HSD17B7	0	LGGM	GRCh37	1	162762572	162762572	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000254521.3:c.159C>A	p.Pro53=	p.P53=	ENST00000254521	NM_016371.2	53	ccC/ccA	0	1	1	UPI000004C64C	0		ENST00000254521		ENSG00000132196	5215		93			HGNC	p.P53P		HSD17B7		SNV							ENST00000367913	protein_coding			Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF314,Superfamily_domains:SSF51735		P		A		214/1190							YES	HSD17B7,synonymous_variant,p.=,ENST00000367917,;HSD17B7,synonymous_variant,p.=,ENST00000254521,NM_016371.2;HSD17B7,synonymous_variant,p.=,ENST00000367913,;HSD17B7,synonymous_variant,p.=,ENST00000367915,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000485405,;HSD17B7,non_coding_transcript_exon_variant,,ENST00000463037,;HSD17B7,upstream_gene_variant,,ENST00000484251,;HSD17B7,synonymous_variant,p.=,ENST00000466176,;							LOW	159/1026		DHB7_HUMAN			Transcript			.	ENSP00000254521		CCDS1242.1			1	
VDAC3	0	LGGM	GRCh37	8	42260929	42260929	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	59	5	.	.	ENST00000521158.1:c.655C>A	p.Arg219Ser	p.R219S	ENST00000521158		219	Cgt/Agt	0	1		UPI0000131F50	0	getma.org/pdb.php?prot=VDAC3_HUMAN&from=3&to=276&var=R218S	ENST00000022615		ENSG00000078668	12674		64	1.345		HGNC	p.R219S		VDAC3		SNV							ENST00000521158	protein_coding	getma.org/?cm=var&var=hg19,8,42260929,C,A&fts=all		hmmpanther:PTHR11743,hmmpanther:PTHR11743:SF28,Pfam_domain:PF01459,Gene3D:2.40.160.10		R/S		A	low	720/1355		getma.org/?cm=msa&ty=f&p=VDAC3_HUMAN&rb=3&re=276&var=R218S	tolerated(0.18)	E5RJN6_HUMAN,E5RHZ6_HUMAN				VDAC3,missense_variant,p.Arg219Ser,ENST00000392935,NM_001135694.2,NM_005662.6;VDAC3,missense_variant,p.Arg218Ser,ENST00000022615,;VDAC3,missense_variant,p.Arg219Ser,ENST00000521158,;VDAC3,intron_variant,,ENST00000522572,;VDAC3,downstream_gene_variant,,ENST00000518563,;VDAC3,downstream_gene_variant,,ENST00000522069,;VDAC3,downstream_gene_variant,,ENST00000520115,;VDAC3,3_prime_UTR_variant,,ENST00000522010,;VDAC3,non_coding_transcript_exon_variant,,ENST00000524291,;VDAC3,downstream_gene_variant,,ENST00000521348,;VDAC3,downstream_gene_variant,,ENST00000518495,;VDAC3,downstream_gene_variant,,ENST00000522178,;							MODERATE	652/852	R218S	VDAC3_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000022615		CCDS6131.1			1	
FREM1	0	LGGM	GRCh37	9	14788979	14788979	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	5	.	.	ENST00000422223.2:c.4115G>T	p.Trp1372Leu	p.W1372L	ENST00000422223	NM_144966.5	1372	tGg/tTg	0	1		UPI000057A218	0	NA	ENST00000380880		ENSG00000164946	23399		75	1.905		HGNC	p.W1372L		FREM1		SNV			1				ENST00000380880	protein_coding	getma.org/?cm=var&var=hg19,9,14788979,C,A&fts=all		hmmpanther:PTHR11878:SF24,hmmpanther:PTHR11878		W/L		A	medium	4899/7324		getma.org/?cm=msa&ty=f&p=FREM1_HUMAN&rb=1201&re=1400&var=W1372L	tolerated(0.39)					FREM1,missense_variant,p.Trp1373Leu,ENST00000380881,;FREM1,missense_variant,p.Trp1372Leu,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Trp1372Leu,ENST00000380880,;FREM1,non_coding_transcript_exon_variant,,ENST00000466679,;FREM1,upstream_gene_variant,,ENST00000485068,;FREM1,non_coding_transcript_exon_variant,,ENST00000497634,;FREM1,intron_variant,,ENST00000380875,;							MODERATE	4115/6540	W1372L	FREM1_HUMAN			Transcript		benign(0.028)	.	ENSP00000370262		CCDS47952.1			1	
NELL1	0	LGGM	GRCh37	11	21592349	21592349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000357134.5:c.2020C>A	p.Gln674Lys	p.Q674K	ENST00000357134	NM_201551.1	674	Cag/Aag	0	1	1	UPI000013E53D	0	NA	ENST00000357134		ENSG00000165973	7750		78	0.895		HGNC	p.Q702K		NELL1		SNV							ENST00000298925	protein_coding	getma.org/?cm=var&var=hg19,11,21592349,C,A&fts=all		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2,SMART_domains:SM00214		Q/K		A	low	2172/3022		getma.org/?cm=msa&ty=f&p=NELL1_HUMAN&rb=632&re=687&var=Q674K	tolerated(0.17)	K9UUD5_HUMAN			YES	NELL1,missense_variant,p.Gln702Lys,ENST00000298925,NM_001288713.1;NELL1,missense_variant,p.Gln674Lys,ENST00000357134,NM_201551.1,NM_006157.3;NELL1,missense_variant,p.Gln617Lys,ENST00000325319,NM_001288714.1;NELL1,missense_variant,p.Gln627Lys,ENST00000532434,;NELL1,non_coding_transcript_exon_variant,,ENST00000529218,;							MODERATE	2020/2433	Q674K	NELL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000349654		CCDS7855.1			1	
ETNK2	0	LGGM	GRCh37	1	204106341	204106341	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	64	5	.	.	ENST00000367202.4:c.905G>T	p.Arg302Leu	p.R302L	ENST00000367202	NM_018208.2	302	cGg/cTg	0	1	1	UPI000007286B	0	getma.org/pdb.php?prot=EKI2_HUMAN&from=105&to=305&var=R302L	ENST00000367202		ENSG00000143845	25575		69	1.675		HGNC	p.R159L	COSM3671594,COSM3671595	ETNK2		SNV						1,1	ENST00000452983	protein_coding	getma.org/?cm=var&var=hg19,1,204106341,C,A&fts=all		hmmpanther:PTHR22603:SF20,hmmpanther:PTHR22603,Gene3D:3.90.1200.10,Superfamily_domains:SSF56112		R/L		A	low	1056/2434		getma.org/?cm=msa&ty=f&p=EKI2_HUMAN&rb=105&re=305&var=R302L	tolerated(0.05)	Q5SXX4_HUMAN,B7Z1G7_HUMAN			YES	ETNK2,missense_variant,p.Arg233Leu,ENST00000367199,;ETNK2,missense_variant,p.Arg302Leu,ENST00000367202,NM_018208.2;ETNK2,missense_variant,p.Arg302Leu,ENST00000367201,;ETNK2,missense_variant,p.Arg124Leu,ENST00000367198,;ETNK2,missense_variant,p.Arg65Leu,ENST00000422072,;ETNK2,missense_variant,p.Arg168Leu,ENST00000422699,;ETNK2,missense_variant,p.Arg159Leu,ENST00000452983,;ETNK2,incomplete_terminal_codon_variant,p.=,ENST00000444817,;ETNK2,5_prime_UTR_variant,,ENST00000367197,;RP11-74C13.3,upstream_gene_variant,,ENST00000433869,;ETNK2,non_coding_transcript_exon_variant,,ENST00000492392,;ETNK2,downstream_gene_variant,,ENST00000477125,;ETNK2,non_coding_transcript_exon_variant,,ENST00000472340,;					1,1		MODERATE	905/1161	R302L	EKI2_HUMAN			Transcript		benign(0.076)	.	ENSP00000356170		CCDS1442.2			1	
HADHA	0	LGGM	GRCh37	2	26437372	26437372	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	5	.	.	ENST00000380649.3:c.858G>T	p.Val286=	p.V286=	ENST00000380649	NM_000182.4	286	gtG/gtT	0	1	1	UPI0000129B6B	0		ENST00000380649		ENSG00000084754	4801		75			HGNC	p.V286V		HADHA		SNV			1				ENST00000380649	protein_coding			Superfamily_domains:SSF52096,TIGRFAM_domain:TIGR02441,Pfam_domain:PF00378,hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF9		V		A		988/3037				Q9UQC5_HUMAN,E9KL44_HUMAN,B4DDZ5_HUMAN			YES	HADHA,synonymous_variant,p.=,ENST00000380649,NM_000182.4;HADHA,synonymous_variant,p.=,ENST00000457468,;HADHA,non_coding_transcript_exon_variant,,ENST00000471743,;							LOW	858/2292		ECHA_HUMAN			Transcript			.	ENSP00000370023		CCDS1721.1			1	
HPSE2	0	LGGM	GRCh37	10	100401680	100401680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	114	5	.	.	ENST00000370552.3:c.1022G>T	p.Arg341Leu	p.R341L	ENST00000370552	NM_021828.4	341	cGg/cTg	0	1	1	UPI00001AEEC0	0	NA	ENST00000370552		ENSG00000172987	18374		119	2.195		HGNC	p.R283L		HPSE2		SNV			1				ENST00000370549	protein_coding	getma.org/?cm=var&var=hg19,10,100401680,C,A&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF03662,hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF2,Superfamily_domains:SSF51445		R/L		A	medium	1082/2295		getma.org/?cm=msa&ty=f&p=HPSE2_HUMAN&rb=170&re=408&var=R341L	deleterious(0)				YES	HPSE2,missense_variant,p.Arg341Leu,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Arg283Leu,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Arg341Leu,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Arg229Leu,ENST00000404542,NM_001166245.1;							MODERATE	1022/1779	R341L	HPSE2_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000359583		CCDS7477.1			1	
SGPP1	0	LGGM	GRCh37	14	64194249	64194249	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	10	5	.	.	ENST00000247225.6:c.414G>T	p.Leu138=	p.L138=	ENST00000247225	NM_030791.2	138	ctG/ctT	0	1	1	UPI000006DEB2	0		ENST00000247225		ENSG00000126821	17720		15			HGNC	p.L138L		SGPP1		SNV							ENST00000247225	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR14969:SF16,hmmpanther:PTHR14969,Gene3D:1.20.144.10,Superfamily_domains:SSF48317		L		A		509/3312							YES	SGPP1,synonymous_variant,p.=,ENST00000247225,NM_030791.2;							LOW	414/1326		SGPP1_HUMAN			Transcript			.	ENSP00000247225		CCDS9760.1			1	
HERC2	0	LGGM	GRCh37	15	28482172	28482172	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	81	5	.	.	ENST00000261609.7:c.3940G>T	p.Gly1314Ter	p.G1314*	ENST00000261609	NM_004667.5	1314	Gga/Tga	0	1	1	UPI00004578F7	0	NA	ENST00000261609		ENSG00000128731	4868		86	0		HGNC	p.G1314X		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28482172,C,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Low_complexity_(Seg):seg		G/*		A	NA	4049/15337		NA					YES	HERC2,stop_gained,p.Gly1314Ter,ENST00000261609,NM_004667.5;							HIGH	3940/14505	G1314*	HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
BVES	0	LGGM	GRCh37	6	105581424	105581424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	5	.	.	ENST00000314641.5:c.29G>T	p.Arg10Ile	p.R10I	ENST00000314641	NM_001199563.1	10	aGa/aTa	0	1	1	UPI000006EFF7	0	NA	ENST00000314641		ENSG00000112276	1152		78	-1.1		HGNC	p.R10I		BVES		SNV							ENST00000336775	protein_coding	getma.org/?cm=var&var=hg19,6,105581424,C,A&fts=all		hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101		R/I		A	neutral	246/5567		getma.org/?cm=msa&ty=f&p=POPD1_HUMAN&rb=1&re=122&var=R10I	tolerated_low_confidence(0.27)				YES	BVES,missense_variant,p.Arg10Ile,ENST00000314641,NM_001199563.1;BVES,missense_variant,p.Arg10Ile,ENST00000336775,NM_007073.4;BVES,missense_variant,p.Arg10Ile,ENST00000446408,NM_147147.3;BVES-AS1,upstream_gene_variant,,ENST00000369122,;BVES-AS1,upstream_gene_variant,,ENST00000580511,;BVES-AS1,upstream_gene_variant,,ENST00000580854,;BVES-AS1,upstream_gene_variant,,ENST00000369120,;							MODERATE	29/1083	R10I	POPD1_HUMAN			Transcript		benign(0)	.	ENSP00000313172		CCDS5051.1			1	
ANK3	0	LGGM	GRCh37	10	61834717	61834717	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	5	.	.	ENST00000280772.2:c.5922C>A	p.Pro1974=	p.P1974=	ENST00000280772	NM_020987.3	1974	ccC/ccA	0	1	1	UPI0000141BA9	0		ENST00000280772		ENSG00000151150	494		47			HGNC	p.P1974P		ANK3		SNV			1				ENST00000280772	protein_coding			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,Low_complexity_(Seg):seg		P		T		6114/16874				D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	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,;							LOW	5922/13134		ANK3_HUMAN			Transcript			.	ENSP00000280772		CCDS7258.1			1	
DPY19L1	0	LGGM	GRCh37	7	35057494	35057494	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	48	5	.	.	ENST00000310974.4:c.192G>T	p.Met64Ile	p.M64I	ENST00000310974	NM_015283.1	64	atG/atT	0	1	1	UPI000067CB92	0	NA	ENST00000310974		ENSG00000173852	22205		53	2.61		HGNC	p.M64I		DPY19L1		SNV							ENST00000310974	protein_coding	getma.org/?cm=var&var=hg19,7,35057494,C,A&fts=all		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF5		M/I		A	medium	337/4870		getma.org/?cm=msa&ty=f&p=D19L1_HUMAN&rb=27&re=672&var=M64I	deleterious(0)				YES	DPY19L1,missense_variant,p.Met64Ile,ENST00000310974,NM_015283.1;DPY19L1,splice_region_variant,,ENST00000481923,;							MODERATE	192/2028	M64I	D19L1_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000308695		CCDS43567.1			1	
RAPGEF4	0	LGGM	GRCh37	2	173853485	173853485	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	47	5	.	.	ENST00000397081.3:c.1292C>A	p.Pro431Gln	p.P431Q	ENST00000397081	NM_007023.3	431	cCa/cAa	0	1	1	UPI000006D4C7	0	getma.org/pdb.php?prot=RPGF4_HUMAN&from=375&to=461&var=P431Q	ENST00000397081		ENSG00000091428	16626		52	3.445		HGNC	p.P431Q		RAPGEF4		SNV							ENST00000409036	protein_coding	getma.org/?cm=var&var=hg19,2,173853485,C,A&fts=all		PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:2.60.120.10,Pfam_domain:PF00027,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR00103		P/Q		A	medium	1435/4299		getma.org/?cm=msa&ty=f&p=RPGF4_HUMAN&rb=375&re=461&var=P431Q	deleterious(0)	Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN			YES	RAPGEF4,missense_variant,p.Pro430Gln,ENST00000264111,;RAPGEF4,missense_variant,p.Pro431Gln,ENST00000397081,NM_007023.3;RAPGEF4,missense_variant,p.Pro287Gln,ENST00000397087,NM_001100397.1,NM_001282899.1,NM_001282901.1;RAPGEF4,missense_variant,p.Pro431Gln,ENST00000409036,;RAPGEF4,missense_variant,p.Pro278Gln,ENST00000540783,;RAPGEF4,missense_variant,p.Pro278Gln,ENST00000539331,;RAPGEF4,missense_variant,p.Pro260Gln,ENST00000538974,NM_001282900.1;RAPGEF4,missense_variant,p.Pro211Gln,ENST00000535187,;RAPGEF4,non_coding_transcript_exon_variant,,ENST00000473043,;RAPGEF4,downstream_gene_variant,,ENST00000459852,;							MODERATE	1292/3036	P431Q	RPGF4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380271		CCDS42775.1			1	
SSX5	0	LGGM	GRCh37	X	48049592	48049592	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	53	5	.	.	ENST00000311798.1:c.566C>A	p.Ser189Tyr	p.S189Y	ENST00000311798	NM_021015.3	189	tCt/tAt	0	1		UPI000013DFFA	0	NA	ENST00000347757		ENSG00000165583	11339		58	2.535		HGNC	p.S88Y		SSX5		SNV							ENST00000403001	protein_coding	getma.org/?cm=var&var=hg19,X,48049592,G,T&fts=all		hmmpanther:PTHR14112,hmmpanther:PTHR14112:SF4		S/Y		T	medium	496/1261		getma.org/?cm=msa&ty=f&p=SSX5_HUMAN&rb=1&re=154&var=S148Y	tolerated(0.08)					SSX5,missense_variant,p.Ser189Tyr,ENST00000311798,NM_021015.3;SSX5,missense_variant,p.Ser148Tyr,ENST00000347757,NM_175723.1;SSX5,missense_variant,p.Ser148Tyr,ENST00000376923,;SSX5,missense_variant,p.Ser88Tyr,ENST00000403001,;							MODERATE	443/567	S148Y	SSX5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000290558		CCDS14289.1			1	
ZNF225	0	LGGM	GRCh37	19	44636607	44636607	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	5	.	.	ENST00000262894.6:c.1840C>A	p.His614Asn	p.H614N	ENST00000262894	NM_013362.2	614	Cat/Aat	0	1	1	UPI000016960F	0	getma.org/pdb.php?prot=ZN225_HUMAN&from=611&to=635&var=H614N	ENST00000262894		ENSG00000256294	13018		91	3.88		HGNC	p.H614N		ZNF225		SNV							ENST00000262894	protein_coding	getma.org/?cm=var&var=hg19,19,44636607,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/N		A	high	2120/2495		getma.org/?cm=msa&ty=f&p=ZN225_HUMAN&rb=591&re=655&var=H614N	deleterious(0.02)	K7ERU6_HUMAN,K7ENA2_HUMAN			YES	ZNF225,missense_variant,p.His614Asn,ENST00000262894,NM_013362.2;ZNF225,missense_variant,p.His614Asn,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,;							MODERATE	1840/2121	H614N	ZN225_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000262894		CCDS46100.1			1	
SLC44A2	0	LGGM	GRCh37	19	10748544	10748544	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	5	.	.	ENST00000335757.5:c.1708G>T	p.Gly570Cys	p.G570C	ENST00000335757		570	Ggc/Tgc	0	1	1	UPI000013CCAB	0	NA	ENST00000335757		ENSG00000129353	17292		51	4.01		HGNC	p.G570C		SLC44A2		SNV							ENST00000335757	protein_coding	getma.org/?cm=var&var=hg19,19,10748544,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF34,Pfam_domain:PF04515		G/C		T	high	2084/3671		getma.org/?cm=msa&ty=f&p=CTL2_HUMAN&rb=317&re=680&var=G570C	deleterious(0)	B3KX31_HUMAN			YES	SLC44A2,missense_variant,p.Gly570Cys,ENST00000586078,NM_020428.3;SLC44A2,missense_variant,p.Gly570Cys,ENST00000335757,;SLC44A2,missense_variant,p.Gly568Cys,ENST00000407327,NM_001145056.1;SLC44A2,missense_variant,p.Gly7Cys,ENST00000586549,;SLC44A2,missense_variant,p.Gly40Cys,ENST00000591194,;AC011475.1,upstream_gene_variant,,ENST00000430975,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000588214,;SLC44A2,non_coding_transcript_exon_variant,,ENST00000589561,;SLC44A2,downstream_gene_variant,,ENST00000588465,;SLC44A2,downstream_gene_variant,,ENST00000588393,;SLC44A2,downstream_gene_variant,,ENST00000588409,;SLC44A2,upstream_gene_variant,,ENST00000590475,;							MODERATE	1708/2121	G570C	CTL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336888		CCDS12245.1			1	
GLIS3	0	LGGM	GRCh37	9	3937094	3937094	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	50	5	.	.	ENST00000381971.3:c.1806G>T	p.Pro602=	p.P602=	ENST00000381971	NM_001042413.1	602	ccG/ccT	0	1		UPI00003675FE	0		ENST00000324333		ENSG00000107249	28510		55			HGNC	p.P447P		GLIS3		SNV			1				ENST00000324333	protein_coding			Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818,PROSITE_profiles:PS50157		P		A		1535/6667				Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,synonymous_variant,p.=,ENST00000324333,NM_152629.3;GLIS3,synonymous_variant,p.=,ENST00000381971,NM_001042413.1;GLIS3,non_coding_transcript_exon_variant,,ENST00000461870,;GLIS3,non_coding_transcript_exon_variant,,ENST00000469833,;GLIS3,non_coding_transcript_exon_variant,,ENST00000464391,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;GLIS3,non_coding_transcript_exon_variant,,ENST00000463680,;							LOW	1341/2328		GLIS3_HUMAN			Transcript			.	ENSP00000325494		CCDS6451.1			1	
ANO3	0	LGGM	GRCh37	11	26663511	26663511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	55	5	.	.	ENST00000256737.3:c.2210G>T	p.Trp737Leu	p.W737L	ENST00000256737	NM_031418.2	737	tGg/tTg	0	1	1	UPI00001F9ED8	0	NA	ENST00000256737		ENSG00000134343	14004		60	2.28		HGNC	p.W721L		ANO3		SNV			1				ENST00000525139	protein_coding	getma.org/?cm=var&var=hg19,11,26663511,G,T&fts=all		hmmpanther:PTHR12308:SF16,hmmpanther:PTHR12308,Pfam_domain:PF04547		W/L		T	medium	3062/6642		getma.org/?cm=msa&ty=f&p=ANO3_HUMAN&rb=384&re=951&var=W737L	deleterious(0)	E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN			YES	ANO3,missense_variant,p.Trp737Leu,ENST00000256737,NM_031418.2;ANO3,missense_variant,p.Trp721Leu,ENST00000537978,;ANO3,missense_variant,p.Trp721Leu,ENST00000525139,;ANO3,missense_variant,p.Trp591Leu,ENST00000531568,;							MODERATE	2210/2946	W737L	ANO3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000256737		CCDS31447.1			1	
TMEM35	0	LGGM	GRCh37	X	100349872	100349872	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	5	.	.	ENST00000372930.4:c.431C>G	p.Pro144Arg	p.P144R	ENST00000372930	NM_021637.2	144	cCt/cGt	0	1	1	UPI0000035FFB	0	NA	ENST00000372930		ENSG00000126950	25864		30	0		HGNC	p.P144R	rs770229862	TMEM35		SNV							ENST00000372930	protein_coding	getma.org/?cm=var&var=hg19,X,100349872,C,G&fts=all		hmmpanther:PTHR13163,hmmpanther:PTHR13163:SF0		P/R		G	neutral	714/2195	2.11E-05	getma.org/?cm=msa&ty=f&p=TMM35_HUMAN&rb=128&re=167&var=P144R	tolerated(0.22)				YES	TMEM35,missense_variant,p.Pro144Arg,ENST00000372930,NM_021637.2;CENPI,upstream_gene_variant,,ENST00000423383,;CENPI,upstream_gene_variant,,ENST00000218507,;CENPI,upstream_gene_variant,,ENST00000403304,;CENPI,upstream_gene_variant,,ENST00000435570,;TRMT2B-AS1,upstream_gene_variant,,ENST00000443801,;TMEM35,non_coding_transcript_exon_variant,,ENST00000478351,;							MODERATE	431/504	P144R	TMM35_HUMAN			Transcript		benign(0.007)	.	ENSP00000362021	8.24E-06	CCDS14478.1			1	
ZNF649	0	LGGM	GRCh37	19	52394114	52394114	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	5	.	.	ENST00000354957.3:c.1275G>T	p.Thr425=	p.T425=	ENST00000354957	NM_023074.3	425	acG/acT	0	1	1	UPI000006D442	0		ENST00000354957		ENSG00000198093	25741		95			HGNC	p.T397T		ZNF649		SNV							ENST00000600738	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF24,Superfamily_domains:SSF57667		T		A		1560/3197				M0R098_HUMAN			YES	ZNF649,synonymous_variant,p.=,ENST00000354957,NM_023074.3;ZNF649,synonymous_variant,p.=,ENST00000600738,;ZNF577,5_prime_UTR_variant,,ENST00000453272,;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,,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,;							LOW	1275/1518		ZN649_HUMAN			Transcript			.	ENSP00000347043		CCDS12843.1			1	
CBLB	0	LGGM	GRCh37	3	105400622	105400622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000264122.4:c.2242G>T	p.Gly748Cys	p.G748C	ENST00000264122	NM_170662.3	748	Ggt/Tgt	0	1	1	UPI00001AE89F	0	NA	ENST00000264122		ENSG00000114423	1542		93	1.39		HGNC	p.G770C		CBLB		SNV							ENST00000394027	protein_coding	getma.org/?cm=var&var=hg19,3,105400622,C,A&fts=all		hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3		G/C		A	low	2564/6780		getma.org/?cm=msa&ty=f&p=CBLB_HUMAN&rb=619&re=818&var=G748C	deleterious_low_confidence(0.01)	C9JU85_HUMAN,B5MC15_HUMAN			YES	CBLB,missense_variant,p.Gly748Cys,ENST00000264122,NM_170662.3;CBLB,missense_variant,p.Gly131Cys,ENST00000394030,;CBLB,missense_variant,p.Gly770Cys,ENST00000394027,;CBLB,missense_variant,p.Gly748Cys,ENST00000403724,;CBLB,missense_variant,p.Gly748Cys,ENST00000405772,;CBLB,missense_variant,p.Gly7Cys,ENST00000407712,;							MODERATE	2242/2949	G748C	CBLB_HUMAN			Transcript		possibly_damaging(0.628)	.	ENSP00000264122		CCDS2948.1			1	
MUC5B	0	LGGM	GRCh37	11	1265860	1265860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	76	5	.	.	ENST00000529681.1:c.7750G>T	p.Ala2584Ser	p.A2584S	ENST00000529681	NM_002458.2	2584	Gcc/Tcc	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		81	2.015		HGNC	p.A2587S		MUC5B		SNV			1				ENST00000447027	protein_coding	getma.org/?cm=var&var=hg19,11,1265860,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		A/S		T	medium	7808/17911		getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=2410&re=2609&var=A2584S		Q93043_HUMAN			YES	MUC5B,missense_variant,p.Ala2587Ser,ENST00000447027,;MUC5B,missense_variant,p.Ala2584Ser,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;							MODERATE	7750/17289	A2584S	MUC5B_HUMAN			Transcript		unknown(0)	.	ENSP00000436812		CCDS44515.2			1	
DTX3L	0	LGGM	GRCh37	3	122289335	122289335	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	71	5	.	.	ENST00000296161.4:c.1969G>T	p.Gly657Ter	p.G657*	ENST00000296161	NM_138287.3	657	Gga/Tga	0	1	1	UPI000000D9D0	0	NA	ENST00000296161		ENSG00000163840	30323		76	0		HGNC	p.G145X		DTX3L		SNV							ENST00000383661	protein_coding	getma.org/?cm=var&var=hg19,3,122289335,G,T&fts=all		hmmpanther:PTHR12622:SF23,hmmpanther:PTHR12622		G/*		T	NA	2158/5868		NA					YES	DTX3L,stop_gained,p.Gly657Ter,ENST00000296161,NM_138287.3;DTX3L,stop_gained,p.Gly145Ter,ENST00000383661,;							HIGH	1969/2223	G657*	DTX3L_HUMAN			Transcript			.	ENSP00000296161		CCDS3015.1			1	
WNK1	0	LGGM	GRCh37	12	970417	970417	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	5	.	.	ENST00000315939.6:c.1859C>A	p.Ser620Ter	p.S620*	ENST00000315939	NM_018979.3	620	tCa/tAa	0	1	1	UPI000013CD65	0	NA	ENST00000315939		ENSG00000060237	14540		83	0		HGNC	p.S620X		WNK1		SNV			1				ENST00000315939	protein_coding	getma.org/?cm=var&var=hg19,12,970417,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF46,Gene3D:1.10.510.10		S/*		A	NA	2502/10452		NA		Q96CZ6_HUMAN			YES	WNK1,stop_gained,p.Ser620Ter,ENST00000537687,NM_001184985.1,NM_213655.4;WNK1,stop_gained,p.Ser620Ter,ENST00000315939,NM_018979.3;WNK1,stop_gained,p.Ser620Ter,ENST00000535572,NM_014823.2;WNK1,stop_gained,p.Ser620Ter,ENST00000530271,;WNK1,stop_gained,p.Ser213Ter,ENST00000340908,;WNK1,upstream_gene_variant,,ENST00000535698,;WNK1,upstream_gene_variant,,ENST00000544965,;WNK1,upstream_gene_variant,,ENST00000545285,;WNK1,downstream_gene_variant,,ENST00000540360,;WNK1,downstream_gene_variant,,ENST00000538787,;							HIGH	1859/7149	S620*	WNK1_HUMAN			Transcript			.	ENSP00000313059		CCDS8506.1			1	
MRPS31	0	LGGM	GRCh37	13	41333197	41333197	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	66	5	.	.	ENST00000323563.6:c.486G>T	p.Val162=	p.V162=	ENST00000323563	NM_005830.3	162	gtG/gtT	0	1	1	UPI000013D1D3	0		ENST00000323563		ENSG00000102738	16632		71			HGNC	p.V162V		MRPS31		SNV							ENST00000323563	protein_coding			Pfam_domain:PF15433,hmmpanther:PTHR13231,Low_complexity_(Seg):seg		V		A		523/1293							YES	MRPS31,synonymous_variant,p.=,ENST00000323563,NM_005830.3;MRPS31,non_coding_transcript_exon_variant,,ENST00000435009,;							LOW	486/1188		RT31_HUMAN			Transcript			.	ENSP00000315397		CCDS9372.1			1	
ASB17	0	LGGM	GRCh37	1	76397872	76397872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	5	.	.	ENST00000284142.6:c.105G>T	p.Leu35Phe	p.L35F	ENST00000284142	NM_080868.2	35	ttG/ttT	0	1	1	UPI0000073CD7	0	NA	ENST00000284142		ENSG00000154007	19769		49	0.805		HGNC	p.L35F		ASB17		SNV							ENST00000284142	protein_coding	getma.org/?cm=var&var=hg19,1,76397872,C,A&fts=all		hmmpanther:PTHR20966,hmmpanther:PTHR20966:SF2		L/F		A	low	245/1107		getma.org/?cm=msa&ty=f&p=ASB17_HUMAN&rb=1&re=129&var=L35F	tolerated_low_confidence(0.17)				YES	ASB17,missense_variant,p.Leu35Phe,ENST00000284142,NM_080868.2;							MODERATE	105/888	L35F	ASB17_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000284142		CCDS671.1			1	
ZNF549	0	LGGM	GRCh37	19	58049213	58049213	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	5	.	.	ENST00000376233.3:c.841G>T	p.Gly281Trp	p.G281W	ENST00000376233	NM_001199295.1	281	Ggg/Tgg	0	1	1	UPI0000202D31	0	getma.org/pdb.php?prot=ZN549_HUMAN&from=261&to=286&var=G281W	ENST00000376233		ENSG00000121406	26632		75	3.38		HGNC	p.G268W		ZNF549		SNV							ENST00000240719	protein_coding	getma.org/?cm=var&var=hg19,19,58049213,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF30,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	medium	1022/4053		getma.org/?cm=msa&ty=f&p=ZN549_HUMAN&rb=241&re=306&var=G281W	deleterious(0.01)				YES	ZNF549,missense_variant,p.Gly281Trp,ENST00000376233,NM_001199295.1;ZNF549,missense_variant,p.Gly268Trp,ENST00000240719,NM_153263.2;ZNF549,intron_variant,,ENST00000602149,;ZNF549,intron_variant,,ENST00000594943,;ZNF550,intron_variant,,ENST00000601415,;ZNF550,downstream_gene_variant,,ENST00000325134,;ZNF550,downstream_gene_variant,,ENST00000344222,;ZNF550,downstream_gene_variant,,ENST00000457177,NM_001277090.1,NM_001277093.1,NM_001277092.1,NM_001277091.1;ZNF550,downstream_gene_variant,,ENST00000447310,;ZNF550,downstream_gene_variant,,ENST00000376230,;							MODERATE	841/1923	G281W	ZN549_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000365407		CCDS56106.1			1	
CLEC17A	0	LGGM	GRCh37	19	14720947	14720947	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	58	5	.	.	ENST00000417570.1:c.1076G>T	p.Trp359Leu	p.W359L	ENST00000417570	NM_001204118.1	359	tGg/tTg	0	1	1	UPI0001747A7C	0	getma.org/pdb.php?prot=CL17A_HUMAN&from=271&to=374&var=W359L	ENST00000417570		ENSG00000187912	34520		63	3.005		HGNC	p.W359L		CLEC17A		SNV							ENST00000417570	protein_coding	getma.org/?cm=var&var=hg19,19,14720947,G,T&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF214,hmmpanther:PTHR22802,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436		W/L		T	medium	1114/1399		getma.org/?cm=msa&ty=f&p=CL17A_HUMAN&rb=271&re=374&var=W359L	deleterious(0)				YES	CLEC17A,missense_variant,p.Trp359Leu,ENST00000417570,NM_001204118.1;CLEC17A,3_prime_UTR_variant,,ENST00000547437,NM_207390.3;CLEC17A,3_prime_UTR_variant,,ENST00000397439,;CLEC17A,3_prime_UTR_variant,,ENST00000551730,;CLEC17A,3_prime_UTR_variant,,ENST00000339847,;							MODERATE	1076/1137	W359L	CL17A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000393719		CCDS56087.1			1	
CYB561A3	0	LGGM	GRCh37	11	61124024	61124024	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	68	5	.	.	ENST00000426130.2:c.213C>A	p.Gly71=	p.G71=	ENST00000426130	NM_001161454.1	71	ggC/ggA	0	1		UPI000000DC3C	0		ENST00000294072		ENSG00000162144	23014		73			HGNC	p.G54G		CYB561A3		SNV							ENST00000542361	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50939,hmmpanther:PTHR10106,hmmpanther:PTHR10106:SF2,Pfam_domain:PF03188,SMART_domains:SM00665		G		T		840/3061				F5H684_HUMAN,F5H5Y9_HUMAN,F5H5L0_HUMAN,F5H121_HUMAN,F5H0P5_HUMAN,F5GX87_HUMAN				CYB561A3,synonymous_variant,p.=,ENST00000537364,;CYB561A3,synonymous_variant,p.=,ENST00000546151,;CYB561A3,synonymous_variant,p.=,ENST00000426130,NM_001161454.1;CYB561A3,synonymous_variant,p.=,ENST00000294072,NM_153611.4,NM_001161452.1;CYB561A3,synonymous_variant,p.=,ENST00000447532,;CYB561A3,synonymous_variant,p.=,ENST00000544118,;CYB561A3,synonymous_variant,p.=,ENST00000536915,;CYB561A3,synonymous_variant,p.=,ENST00000539128,;CYB561A3,synonymous_variant,p.=,ENST00000542361,;CYB561A3,synonymous_variant,p.=,ENST00000545361,;CYB561A3,synonymous_variant,p.=,ENST00000539890,;CYB561A3,upstream_gene_variant,,ENST00000540139,;DAK,downstream_gene_variant,,ENST00000534084,;CYB561A3,downstream_gene_variant,,ENST00000537680,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000536687,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000538263,;CYB561A3,intron_variant,,ENST00000540317,;CYB561A3,downstream_gene_variant,,ENST00000535152,;CYB561A3,synonymous_variant,p.=,ENST00000540755,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000535177,;CYB561A3,non_coding_transcript_exon_variant,,ENST00000542411,;							LOW	162/729		CYAC3_HUMAN			Transcript			.	ENSP00000294072		CCDS8004.1			1	
KCNT2	0	LGGM	GRCh37	1	196274433	196274433	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	58	5	.	.	ENST00000294725.9:c.2526C>A	p.Pro842=	p.P842=	ENST00000294725		842	ccC/ccA	0	1	1	UPI00001E0966	0		ENST00000294725		ENSG00000162687	18866		63			HGNC	p.P818P		KCNT2		SNV							ENST00000367433	protein_coding			Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9		P		T		3442/4409				A9LNM6_HUMAN			YES	KCNT2,synonymous_variant,p.=,ENST00000367433,NM_198503.2,NM_001287819.1;KCNT2,synonymous_variant,p.=,ENST00000367431,;KCNT2,synonymous_variant,p.=,ENST00000294725,;KCNT2,synonymous_variant,p.=,ENST00000609185,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;							LOW	2526/3408		KCNT2_HUMAN			Transcript			.	ENSP00000294725		CCDS1384.1			1	
MRC1L1	0	LGGM	GRCh37	10	17949613	17949613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	60	5	.	.	ENST00000331429.2:c.3977C>A	p.Ser1326Tyr	p.S1326Y	ENST00000331429		1326	tCt/tAt	0	1	1	UPI00001AFE88	0		ENST00000331429		ENSG00000183748			65			Clone_based_vega_gene	p.S1326Y		MRC1L1		SNV							ENST00000331429	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF55,SMART_domains:SM00034,Superfamily_domains:SSF56436		S/Y		A		4080/5171				B4DLK9_HUMAN			YES	MRC1L1,missense_variant,p.Ser1326Tyr,ENST00000331429,;							MODERATE	3977/4371					Transcript		possibly_damaging(0.834)	.	ENSP00000332124					1	
RP1L1	0	LGGM	GRCh37	8	10470138	10470138	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	5	.	.	ENST00000382483.3:c.1470G>T	p.Gly490=	p.G490=	ENST00000382483	NM_178857.5	490	ggG/ggT	0	1	1	UPI00001AF9CC	0		ENST00000382483		ENSG00000183638	15946		23			HGNC	p.G490G		RP1L1		SNV			1				ENST00000382483	protein_coding			hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005		G		A		1694/7973				A6NKC6_HUMAN			YES	RP1L1,synonymous_variant,p.=,ENST00000382483,NM_178857.5;							LOW	1470/7203					Transcript			.	ENSP00000371923		CCDS43708.1			1	
FAM205B	0	LGGM	GRCh37	9	34834427	34834427	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	5	.	.	ENST00000399773.6:n.1874G>T		*625*	ENST00000399773				0	1	1		0		ENST00000399773		ENSG00000257198	24504		33			HGNC	p.Q354H		FAM205B		SNV							ENST00000455647	transcribed_unprocessed_pseudogene							A		1874/4009							YES	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;							MODIFIER						Transcript			.						1	
SMARCAD1	0	LGGM	GRCh37	4	95170845	95170845	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	29	5	.	.	ENST00000359052.4:c.746G>T	p.Trp249Leu	p.W249L	ENST00000359052	NM_001128430.1	249	tGg/tTg	0	1		UPI000013E22F	0	NA	ENST00000354268		ENSG00000163104	18398		34	1.845		HGNC	p.W249L		SMARCAD1		SNV			1				ENST00000457823	protein_coding	getma.org/?cm=var&var=hg19,4,95170845,G,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF271,Low_complexity_(Seg):seg		W/L		T	low	819/4912		getma.org/?cm=msa&ty=f&p=SMRCD_HUMAN&rb=201&re=400&var=W249L	tolerated(0.07)					SMARCAD1,missense_variant,p.Trp249Leu,ENST00000359052,NM_001128430.1;SMARCAD1,missense_variant,p.Trp249Leu,ENST00000354268,;SMARCAD1,missense_variant,p.Trp249Leu,ENST00000457823,NM_001128429.2,NM_020159.4;SMARCAD1,upstream_gene_variant,,ENST00000509418,NM_001254949.1;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;SMARCAD1,3_prime_UTR_variant,,ENST00000510105,;							MODERATE	746/3081	W249L	SMRCD_HUMAN			Transcript		benign(0.105)	.	ENSP00000346217		CCDS3639.1			1	
DNAH11	0	LGGM	GRCh37	7	21847518	21847518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	5	.	.	ENST00000328843.6:c.10204C>A	p.Gln3402Lys	p.Q3402K	ENST00000328843		3402	Caa/Aaa	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		35			HGNC	p.Q3402K	rs759904861	DNAH11		SNV			1				ENST00000328843	protein_coding			Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		Q/K		A		10214/14167	3.13E-05		tolerated(0.07)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Gln3402Lys,ENST00000328843,;DNAH11,missense_variant,p.Gln3395Lys,ENST00000409508,NM_001277115.1;							MODERATE	10183/13551					Transcript		benign(0.062)	.	ENSP00000475939	1.66E-05	CCDS64602.1			1	
ACVR2B	0	LGGM	GRCh37	3	38522948	38522948	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	5	.	.	ENST00000352511.4:c.1066C>A	p.His356Asn	p.H356N	ENST00000352511	NM_001106.3	356	Cac/Aac	0	1	1	UPI00001AF0AE	0	getma.org/pdb.php?prot=AVR2B_HUMAN&from=190&to=478&var=H356N	ENST00000352511		ENSG00000114739	174		91	1.455		HGNC	p.H356N		ACVR2B		SNV			1				ENST00000352511	protein_coding	getma.org/?cm=var&var=hg19,3,38522948,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57,Superfamily_domains:SSF56112		H/N		A	low	1538/11821		getma.org/?cm=msa&ty=f&p=AVR2B_HUMAN&rb=190&re=478&var=H356N	deleterious(0)	Q71UM3_HUMAN,Q4VAU9_HUMAN			YES	ACVR2B,missense_variant,p.His356Asn,ENST00000352511,NM_001106.3;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;							MODERATE	1066/1539	H356N	AVR2B_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000340361		CCDS2679.1			1	
LRRC49	0	LGGM	GRCh37	15	71302150	71302150	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	5	.	.	ENST00000560369.1:c.1427T>G	p.Leu476Arg	p.L476R	ENST00000560369		476	cTt/cGt	0	1		UPI000013F990	0	NA	ENST00000260382		ENSG00000137821	25965		44	2.045		HGNC	p.L159R		LRRC49		SNV							ENST00000560158	protein_coding	getma.org/?cm=var&var=hg19,15,71302150,T,G&fts=all		hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF5		L/R		G	medium	1672/2784		getma.org/?cm=msa&ty=f&p=LRC49_HUMAN&rb=311&re=684&var=L471R	deleterious(0)	H0YNV5_HUMAN,H0YNI5_HUMAN,H0YLQ8_HUMAN,H0YKI5_HUMAN,H0YKE9_HUMAN				LRRC49,missense_variant,p.Leu471Arg,ENST00000260382,NM_001199017.1,NM_017691.3;LRRC49,missense_variant,p.Leu427Arg,ENST00000443425,NM_001199018.1;LRRC49,missense_variant,p.Leu476Arg,ENST00000560369,;LRRC49,missense_variant,p.Leu461Arg,ENST00000544974,NM_001284357.1;LRRC49,missense_variant,p.Leu177Arg,ENST00000560691,;LRRC49,missense_variant,p.Leu159Arg,ENST00000560158,;LRRC49,downstream_gene_variant,,ENST00000559806,;LRRC49,downstream_gene_variant,,ENST00000559069,;LRRC49,non_coding_transcript_exon_variant,,ENST00000436542,;LRRC49,non_coding_transcript_exon_variant,,ENST00000559422,;LRRC49,3_prime_UTR_variant,,ENST00000561081,;LRRC49,3_prime_UTR_variant,,ENST00000560107,;LRRC49,downstream_gene_variant,,ENST00000559685,;							MODERATE	1412/2061	L471R	LRC49_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000260382		CCDS32282.1			1	
ATF7IP	0	LGGM	GRCh37	12	14578346	14578346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	40	5	.	.	ENST00000261168.4:c.1497G>T	p.Glu499Asp	p.E499D	ENST00000261168	NM_018179.3	499	gaG/gaT	0	1	1	UPI00001FB6B1	0	NA	ENST00000261168		ENSG00000171681	20092		45	1.78		HGNC	p.E499D		ATF7IP		SNV							ENST00000261168	protein_coding	getma.org/?cm=var&var=hg19,12,14578346,G,T&fts=all		hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210		E/D		T	low	1650/4656		getma.org/?cm=msa&ty=f&p=MCAF1_HUMAN&rb=1&re=1160&var=E499D	tolerated_low_confidence(0.12)	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			YES	ATF7IP,missense_variant,p.Glu507Asp,ENST00000544627,NM_181352.1;ATF7IP,missense_variant,p.Glu499Asp,ENST00000261168,NM_018179.3;ATF7IP,missense_variant,p.Glu499Asp,ENST00000536444,NM_001286514.1;ATF7IP,missense_variant,p.Glu499Asp,ENST00000543189,NM_001286515.1;ATF7IP,missense_variant,p.Glu499Asp,ENST00000540793,;ATF7IP,missense_variant,p.Glu499Asp,ENST00000396279,;ATF7IP,intron_variant,,ENST00000545723,;ATF7IP,intron_variant,,ENST00000538511,;ATF7IP,downstream_gene_variant,,ENST00000542508,;ATF7IP,downstream_gene_variant,,ENST00000542514,;ATF7IP,downstream_gene_variant,,ENST00000542991,;ATF7IP,downstream_gene_variant,,ENST00000539057,;ATF7IP,downstream_gene_variant,,ENST00000535132,;ATF7IP,downstream_gene_variant,,ENST00000536279,;ATF7IP,downstream_gene_variant,,ENST00000541056,;ATF7IP,downstream_gene_variant,,ENST00000545769,;ATF7IP,downstream_gene_variant,,ENST00000542967,;ATF7IP,downstream_gene_variant,,ENST00000428217,;ATF7IP,downstream_gene_variant,,ENST00000534828,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;							MODERATE	1497/3813	E499D	MCAF1_HUMAN			Transcript		benign(0.388)	.	ENSP00000261168		CCDS8663.1			1	
RAG2	0	LGGM	GRCh37	11	36614893	36614893	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	47	5	.	.	ENST00000311485.3:c.826G>T	p.Gly276Cys	p.G276C	ENST00000311485	NM_000536.3	276	Ggc/Tgc	0	1	1	UPI00001330E9	0	NA	ENST00000311485		ENSG00000175097	9832		52	3.765		HGNC	p.G276C		RAG2		SNV			1				ENST00000311485	protein_coding	getma.org/?cm=var&var=hg19,11,36614893,C,A&fts=all		Superfamily_domains:0047741,Pfam_domain:PF03089,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0		G/C		A	high	988/2388		getma.org/?cm=msa&ty=f&p=RAG2_HUMAN&rb=51&re=389&var=G276C	deleterious(0)	Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN			YES	RAG2,missense_variant,p.Gly276Cys,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,;							MODERATE	826/1584	G276C	RAG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308620		CCDS7903.1			1	
TMEM207	0	LGGM	GRCh37	3	190147424	190147424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	86	5	.	.	ENST00000354905.2:c.401G>T	p.Gly134Val	p.G134V	ENST00000354905	NM_207316.1	134	gGc/gTc	0	1	1	UPI0000048F12	0	NA	ENST00000354905		ENSG00000198398	33705	8.70E-05	91	1.5		HGNC	p.G134V	rs773266581	TMEM207		SNV							ENST00000354905	protein_coding	getma.org/?cm=var&var=hg19,3,190147424,C,A&fts=all				G/V		A	low	468/1448		getma.org/?cm=msa&ty=f&p=TM207_HUMAN&rb=1&re=145&var=G134V	deleterious(0)				YES	TMEM207,missense_variant,p.Gly134Val,ENST00000354905,NM_207316.1;							MODERATE	401/441	G134V	TM207_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000346981	8.24E-06	CCDS3297.1			1	
NOP14	0	LGGM	GRCh37	4	2955274	2955274	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	79	5	.	.	ENST00000416614.2:c.711C>A	p.Pro237=	p.P237=	ENST00000416614		237	ccC/ccA	0	1		UPI00001A9472	0		ENST00000314262		ENSG00000087269	16821		84			HGNC	p.P237P		NOP14		SNV							ENST00000398071	protein_coding			hmmpanther:PTHR23183:SF0,hmmpanther:PTHR23183,Pfam_domain:PF04147		P		T		760/2889								NOP14,synonymous_variant,p.=,ENST00000416614,;NOP14,synonymous_variant,p.=,ENST00000314262,NM_003703.1;NOP14,synonymous_variant,p.=,ENST00000502735,;NOP14,synonymous_variant,p.=,ENST00000398071,;NOP14-AS1,intron_variant,,ENST00000503709,;NOP14-AS1,downstream_gene_variant,,ENST00000515194,;							LOW	711/2574		NOP14_HUMAN			Transcript			.	ENSP00000315674		CCDS33945.1			1	
CCDC87	0	LGGM	GRCh37	11	66358295	66358295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	71	5	.	.	ENST00000333861.3:c.2192G>T	p.Arg731Leu	p.R731L	ENST00000333861	NM_018219.2	731	cGg/cTg	0	1	1	UPI000013EFC2	0		ENST00000333861		ENSG00000182791	25579		76			HGNC	p.R731L		CCDC87		SNV							ENST00000333861	protein_coding			Pfam_domain:PF03999,hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1		R/L		A		2260/2915			deleterious(0)				YES	CCDC87,missense_variant,p.Arg731Leu,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,;							MODERATE	2192/2550		CCD87_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000328487		CCDS8145.1			1	
SH3BGR	0	LGGM	GRCh37	21	40823883	40823883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	5	.	.	ENST00000333634.4:c.50A>G	p.Asp17Gly	p.D17G	ENST00000333634	NM_007341.2	17	gAc/gGc	0	1	1	UPI00001B03C6	0	NA	ENST00000333634		ENSG00000185437	10822		16	0		HGNC	p.D17G		SH3BGR		SNV							ENST00000333634	protein_coding	getma.org/?cm=var&var=hg19,21,40823883,A,G&fts=all				D/G		G	neutral	128/1251		getma.org/?cm=msa&ty=f&p=SH3BG_HUMAN&rb=1&re=63&var=D17G	tolerated_low_confidence(0.21)	C9JX40_HUMAN			YES	SH3BGR,missense_variant,p.Asp17Gly,ENST00000333634,NM_007341.2;SH3BGR,intron_variant,,ENST00000380637,NM_001001713.1;SH3BGR,intron_variant,,ENST00000380634,;SH3BGR,intron_variant,,ENST00000458295,;SH3BGR,intron_variant,,ENST00000380631,;SH3BGR,intron_variant,,ENST00000440288,;SH3BGR,upstream_gene_variant,,ENST00000452550,;							MODERATE	50/720	D17G	SH3BG_HUMAN			Transcript		benign(0.001)	.	ENSP00000332513		CCDS13666.1			1	
WDFY2	0	LGGM	GRCh37	13	52329524	52329524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	59	5	.	.	ENST00000298125.5:c.862C>A	p.Gln288Lys	p.Q288K	ENST00000298125	NM_052950.3	288	Caa/Aaa	0	1	1	UPI00000466AC	0	getma.org/pdb.php?prot=WDFY2_HUMAN&from=279&to=353&var=Q288K	ENST00000298125		ENSG00000139668	20482		64	1.325		HGNC	p.Q288K		WDFY2		SNV							ENST00000298125	protein_coding	getma.org/?cm=var&var=hg19,13,52329524,C,A&fts=all		Superfamily_domains:SSF57903,SMART_domains:SM00064,Gene3D:3.30.40.10,Pfam_domain:PF01363,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF84,PROSITE_profiles:PS50178		Q/K		A	low	1042/3649		getma.org/?cm=msa&ty=f&p=WDFY2_HUMAN&rb=279&re=353&var=Q288K	deleterious(0.01)				YES	WDFY2,missense_variant,p.Gln288Lys,ENST00000298125,NM_052950.3;WDFY2,downstream_gene_variant,,ENST00000460145,;							MODERATE	862/1203	Q288K	WDFY2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000298125		CCDS9429.1			1	
FMNL2	0	LGGM	GRCh37	2	153475365	153475365	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	5	.	.	ENST00000288670.9:c.1320C>A	p.Ile440=	p.I440=	ENST00000288670	NM_052905.3	440	atC/atA	0	1	1	UPI0000441EF9	0		ENST00000288670		ENSG00000157827	18267		90			HGNC	p.I440I		FMNL2		SNV							ENST00000288670	protein_coding			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF180,hmmpanther:PTHR23213,Pfam_domain:PF06367,Superfamily_domains:SSF48371		I		A		1687/5575				B3KT32_HUMAN			YES	FMNL2,synonymous_variant,p.=,ENST00000288670,NM_052905.3;FMNL2,upstream_gene_variant,,ENST00000475377,;							LOW	1320/3279		FMNL2_HUMAN			Transcript			.	ENSP00000288670		CCDS46429.1			1	
MGAM	0	LGGM	GRCh37	7	141722233	141722233	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	94	5	.	.	ENST00000549489.2:c.876C>A	p.Pro292=	p.P292=	ENST00000549489	NM_004668.2	292	ccC/ccA	0	1	1	UPI000183CB7B	0		ENST00000549489		ENSG00000257335	7043		99			HGNC	p.P292P		MGAM		SNV							ENST00000549489	protein_coding			Superfamily_domains:SSF74650,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762		P		A		971/6525				Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,synonymous_variant,p.=,ENST00000549489,NM_004668.2;MGAM,downstream_gene_variant,,ENST00000465654,;MGAM,downstream_gene_variant,,ENST00000497673,;							LOW	876/5574		MGA_HUMAN			Transcript			.	ENSP00000447378		CCDS47727.1			1	
RASGRP1	0	LGGM	GRCh37	15	38852106	38852106	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	5	.	.	ENST00000310803.5:c.136C>A	p.Gln46Lys	p.Q46K	ENST00000310803	NM_005739.3	46	Cag/Aag	0	1	1	UPI000006FE1C	0	NA	ENST00000310803		ENSG00000172575	9878		49	0.695		HGNC	p.Q46K		RASGRP1		SNV			1				ENST00000559830	protein_coding	getma.org/?cm=var&var=hg19,15,38852106,G,T&fts=all		Superfamily_domains:0041591,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF174		Q/K		T	neutral	314/5023		getma.org/?cm=msa&ty=f&p=GRP1_HUMAN&rb=1&re=55&var=Q46K	tolerated(1)	H0YNG8_HUMAN,H0YN83_HUMAN,H0YKP8_HUMAN,F5H514_HUMAN			YES	RASGRP1,missense_variant,p.Gln46Lys,ENST00000310803,NM_005739.3,NM_001128602.1;RASGRP1,missense_variant,p.Gln60Lys,ENST00000558432,;RASGRP1,missense_variant,p.Gln97Lys,ENST00000561180,;RASGRP1,missense_variant,p.Gln46Lys,ENST00000450598,;RASGRP1,missense_variant,p.Gln46Lys,ENST00000559830,;RASGRP1,missense_variant,p.Gln46Lys,ENST00000558164,;RASGRP1,5_prime_UTR_variant,,ENST00000539159,;RASGRP1,5_prime_UTR_variant,,ENST00000561117,;RASGRP1,5_prime_UTR_variant,,ENST00000558418,;RASGRP1,5_prime_UTR_variant,,ENST00000560929,;RASGRP1,missense_variant,p.Gln46Lys,ENST00000414708,;							MODERATE	136/2394	Q46K	GRP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000310244		CCDS45222.1			1	
CHRM3	0	LGGM	GRCh37	1	240070844	240070844	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	68	5	.	.	ENST00000255380.4:c.93G>T	p.Pro31=	p.P31=	ENST00000255380	NM_000740.2	31	ccG/ccT	0	1	1	UPI0000050453	0		ENST00000255380		ENSG00000133019	1952		73			HGNC	p.P31P		CHRM3		SNV			1				ENST00000255380	protein_coding					P		T		872/8778				Q8NG01_HUMAN,B1AN12_HUMAN			YES	CHRM3,synonymous_variant,p.=,ENST00000255380,NM_000740.2;CHRM3,synonymous_variant,p.=,ENST00000448020,;							LOW	93/1773		ACM3_HUMAN			Transcript			.	ENSP00000255380		CCDS1616.1			1	
EDIL3	0	LGGM	GRCh37	5	83402632	83402632	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	5	.	.	ENST00000296591.5:c.486G>T	p.Leu162=	p.L162=	ENST00000296591	NM_005711.4	162	ctG/ctT	0	1	1	UPI000004D126	0		ENST00000296591		ENSG00000164176	3173		90			HGNC	p.L152L	COSM593545	EDIL3		SNV						1	ENST00000380138	protein_coding			Superfamily_domains:SSF49785,SMART_domains:SM00231,Gene3D:2.60.120.260,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50022		L		A		905/4727							YES	EDIL3,synonymous_variant,p.=,ENST00000296591,NM_005711.4;EDIL3,synonymous_variant,p.=,ENST00000380138,NM_001278642.1;EDIL3,non_coding_transcript_exon_variant,,ENST00000507663,;					1		LOW	486/1443		EDIL3_HUMAN			Transcript			.	ENSP00000296591		CCDS4062.1			1	
FAM188B2	0	LGGM	GRCh37	3	150588954	150588954	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	80	5	.	.	ENST00000397891.3:c.949G>T	p.Glu317Ter	p.E317*	ENST00000397891		317	Gaa/Taa	0	1	1	UPI00015E0933	0		ENST00000397891		ENSG00000214237	35475		85			HGNC	p.E317X		FAM188B2		SNV							ENST00000397891	protein_coding			Pfam_domain:PF13898,hmmpanther:PTHR12473,hmmpanther:PTHR12473:SF7		E/*		A		949/1071				H3BNN4_HUMAN,H3BMX4_HUMAN			YES	FAM188B2,stop_gained,p.Glu317Ter,ENST00000397891,;FAM188B2,stop_gained,p.Glu233Ter,ENST00000465419,;CLRN1-AS1,intron_variant,,ENST00000476886,;							HIGH	949/1071		F1882_HUMAN			Transcript			.	ENSP00000454591					1	
CNNM4	0	LGGM	GRCh37	2	97427203	97427203	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	5	.	.	ENST00000377075.2:c.467C>A	p.Pro156His	p.P156H	ENST00000377075	NM_020184.3	156	cCc/cAc	0	1	1	UPI0000207C95	0	NA	ENST00000377075		ENSG00000158158	105		41	0.345		HGNC	p.P156H		CNNM4		SNV			1				ENST00000377075	protein_coding	getma.org/?cm=var&var=hg19,2,97427203,C,A&fts=all		hmmpanther:PTHR12064:SF26,hmmpanther:PTHR12064		P/H		A	neutral	565/4800		getma.org/?cm=msa&ty=f&p=CNNM4_HUMAN&rb=1&re=183&var=P156H	tolerated(0.07)				YES	CNNM4,missense_variant,p.Pro156His,ENST00000377075,NM_020184.3;							MODERATE	467/2328	P156H	CNNM4_HUMAN			Transcript		benign(0.212)	.	ENSP00000366275		CCDS2024.2			1	
BAZ1B	0	LGGM	GRCh37	7	72925093	72925093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	84	5	.	.	ENST00000339594.4:c.197G>T	p.Trp66Leu	p.W66L	ENST00000339594	NM_032408.3	66	tGg/tTg	0	1	1	UPI0000126731	0	NA	ENST00000339594		ENSG00000009954	961		89	-0.505		HGNC	p.W66L		BAZ1B		SNV			1				ENST00000339594	protein_coding	getma.org/?cm=var&var=hg19,7,72925093,C,A&fts=all		Pfam_domain:PF10537,PROSITE_profiles:PS51136,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF60,Low_complexity_(Seg):seg		W/L		A	neutral	536/6102		getma.org/?cm=msa&ty=f&p=BAZ1B_HUMAN&rb=20&re=120&var=W66L	tolerated(0.4)				YES	BAZ1B,missense_variant,p.Trp66Leu,ENST00000339594,NM_032408.3;BAZ1B,missense_variant,p.Trp66Leu,ENST00000404251,;RNU6-1198P,downstream_gene_variant,,ENST00000516904,;							MODERATE	197/4452	W66L	BAZ1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342434		CCDS5549.1			1	
SETDB1	0	LGGM	GRCh37	1	150900297	150900297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000271640.5:c.107C>A	p.Ser36Tyr	p.S36Y	ENST00000271640	NM_001145415.1	36	tCt/tAt	0	1	1	UPI0000135897	0	NA	ENST00000271640		ENSG00000143379	10761		93	0.895		HGNC	p.S36Y		SETDB1		SNV							ENST00000498193	protein_coding	getma.org/?cm=var&var=hg19,1,150900297,C,A&fts=all		PROSITE_profiles:PS51573,hmmpanther:PTHR22884:SF323,hmmpanther:PTHR22884		S/Y		A	low	297/4437		getma.org/?cm=msa&ty=f&p=SETB1_HUMAN&rb=1&re=69&var=S36Y	deleterious(0)	E9PS59_HUMAN,B0QZE6_HUMAN			YES	SETDB1,missense_variant,p.Ser36Tyr,ENST00000271640,NM_001145415.1,NM_012432.3;SETDB1,missense_variant,p.Ser36Tyr,ENST00000368969,;SETDB1,missense_variant,p.Ser36Tyr,ENST00000498193,;SETDB1,missense_variant,p.Ser36Tyr,ENST00000534805,;SETDB1,missense_variant,p.Ser36Tyr,ENST00000368962,NM_001243491.1;SETDB1,missense_variant,p.Ser36Tyr,ENST00000368963,;SETDB1,missense_variant,p.Ser36Tyr,ENST00000448029,;SETDB1,missense_variant,p.Ser50Tyr,ENST00000423081,;SETDB1,missense_variant,p.Ser36Tyr,ENST00000525956,;SETDB1,non_coding_transcript_exon_variant,,ENST00000459773,;SETDB1,non_coding_transcript_exon_variant,,ENST00000487584,;SETDB1,missense_variant,p.Ser36Tyr,ENST00000368964,;SETDB1,non_coding_transcript_exon_variant,,ENST00000463774,;SETDB1,upstream_gene_variant,,ENST00000481219,;							MODERATE	107/3876	S36Y	SETB1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000271640		CCDS44217.1			1	
TSHZ3	0	LGGM	GRCh37	19	31769996	31769996	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	81	5	.	.	ENST00000240587.4:c.703G>T	p.Glu235Ter	p.E235*	ENST00000240587	NM_020856.2	235	Gag/Tag	0	1	1	UPI0000202000	0	NA	ENST00000240587		ENSG00000121297	30700		86	0		HGNC	p.E235X		TSHZ3		SNV							ENST00000240587	protein_coding	getma.org/?cm=var&var=hg19,19,31769996,C,A&fts=all		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,PROSITE_patterns:PS00028,Pfam_domain:PF12756,SMART_domains:SM00355		E/*		A	NA	1031/5176		NA		A1L0U7_HUMAN			YES	TSHZ3,stop_gained,p.Glu235Ter,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;							HIGH	703/3246	E235*	TSH3_HUMAN			Transcript			.	ENSP00000240587		CCDS12421.2			1	
ANTXRL	0	LGGM	GRCh37	10	47674009	47674009	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	88	5	.	.	ENST00000447511.2:c.848G>T	p.Arg283Leu	p.R283L	ENST00000447511	NM_001278688.1	283	cGg/cTg	0	1	1	UPI00015B6A6A	0		ENST00000447511		ENSG00000198250	27277		93			HGNC	p.R283L		ANTXRL		SNV							ENST00000537271	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF05587,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF10		R/L		T		1113/2284			tolerated(0.36)	H3BVE1_HUMAN,H3BPS2_HUMAN			YES	ANTXRL,missense_variant,p.Arg283Leu,ENST00000447511,NM_001278688.1;ANTXRL,missense_variant,p.Arg283Leu,ENST00000537271,;ANTXRL,missense_variant,p.Arg188Leu,ENST00000424375,;ANTXRL,missense_variant,p.Arg88Leu,ENST00000434908,;							MODERATE	848/1896					Transcript		benign(0)	.	ENSP00000455449		CCDS60524.1			1	
ZNF671	0	LGGM	GRCh37	19	58233764	58233764	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	6	.	.	ENST00000317398.6:c.308G>T	p.Arg103Leu	p.R103L	ENST00000317398	NM_024833.2	103	cGa/cTa	0	1	1	UPI000013C612	0	NA	ENST00000317398		ENSG00000083814	26279		84	1.345		HGNC	p.R103L		ZNF671		SNV							ENST00000317398	protein_coding	getma.org/?cm=var&var=hg19,19,58233764,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24390:SF44,hmmpanther:PTHR24390,SMART_domains:SM00349,Superfamily_domains:0044637		R/L		A	low	404/2431		getma.org/?cm=msa&ty=f&p=ZN671_HUMAN&rb=49&re=120&var=R103L	tolerated(1)	C9J3V7_HUMAN			YES	ZNF671,missense_variant,p.Arg103Leu,ENST00000317398,NM_024833.2;ZNF671,missense_variant,p.Arg5Leu,ENST00000335820,;ZNF671,3_prime_UTR_variant,,ENST00000596939,;AC003006.7,intron_variant,,ENST00000594684,;ZNF671,non_coding_transcript_exon_variant,,ENST00000594803,;AC003006.7,intron_variant,,ENST00000599221,;ZNF671,downstream_gene_variant,,ENST00000599961,;ZNF671,3_prime_UTR_variant,,ENST00000600125,;ZNF671,3_prime_UTR_variant,,ENST00000601584,;							MODERATE	308/1605	R103L	ZN671_HUMAN			Transcript		benign(0.001)	.	ENSP00000321848		CCDS12961.1			1	
DYM	0	LGGM	GRCh37	18	46783475	46783475	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	23	6	.	.	ENST00000269445.6:c.1366-1G>T		p.X456_splice	ENST00000269445	NM_017653.3			0	1	1	UPI00001AE953	0		ENST00000269445		ENSG00000141627	21317		29			HGNC	-		DYM		SNV			1				ENST00000442713	protein_coding							A		-/2703				J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN			YES	DYM,splice_acceptor_variant,,ENST00000269445,NM_017653.3;DYM,splice_acceptor_variant,,ENST00000442713,;DYM,splice_acceptor_variant,,ENST00000582399,;							HIGH	1366/2010		DYM_HUMAN			Transcript			.	ENSP00000269445		CCDS11937.1			1	
RIPK1	0	LGGM	GRCh37	6	3105757	3105757	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	110	6	.	.	ENST00000259808.4:c.1048G>T	p.Gly350Trp	p.G350W	ENST00000259808		350	Ggg/Tgg	0	1	1	UPI000000DC95	0	NA	ENST00000259808		ENSG00000137275	10019		116	1.87		HGNC	p.G350W	rs371760083	RIPK1		SNV	T:0.0002			0.000195			ENST00000259808	protein_coding	getma.org/?cm=var&var=hg19,6,3105757,G,T&fts=all		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF375		G/W	T:0	T	low	1346/4160		getma.org/?cm=msa&ty=f&p=RIPK1_HUMAN&rb=350&re=503&var=G350W	deleterious(0.02)				YES	RIPK1,missense_variant,p.Gly350Trp,ENST00000259808,;RIPK1,missense_variant,p.Gly350Trp,ENST00000380409,NM_003804.3;RIPK1,missense_variant,p.Gly304Trp,ENST00000541791,;RIPK1,non_coding_transcript_exon_variant,,ENST00000479389,;							MODERATE	1048/2016	G350W	RIPK1_HUMAN			Transcript		possibly_damaging(0.619)	.	ENSP00000259808	1.65E-05	CCDS4482.1			1	
HSPD1	0	LGGM	GRCh37	2	198353111	198353111	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	6	.	.	ENST00000388968.3:c.1320G>T	p.Gly440=	p.G440=	ENST00000388968	NM_002156.4	440	ggG/ggT	0	1		UPI0000042366	0		ENST00000345042		ENSG00000144381	5261		57			HGNC	p.G440G	rs752398270	HSPD1		SNV			1				ENST00000345042	protein_coding			Prints_domain:PR00298,Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,TIGRFAM_domain:TIGR02348,PROSITE_patterns:PS00296,hmmpanther:PTHR11353,HAMAP:MF_00600		G		A		1437/2299	1.50E-05			Q53SE2_HUMAN,Q53QD5_HUMAN,E7EXB4_HUMAN,C9JL19_HUMAN,C9JCQ4_HUMAN,C9J0S9_HUMAN				HSPD1,synonymous_variant,p.=,ENST00000388968,NM_002156.4;HSPD1,synonymous_variant,p.=,ENST00000345042,NM_199440.1;HSPD1,non_coding_transcript_exon_variant,,ENST00000491249,;HSPD1,downstream_gene_variant,,ENST00000482167,;							LOW	1320/1722		CH60_HUMAN			Transcript			.	ENSP00000340019	8.24E-06	CCDS33357.1			1	
PITRM1	0	LGGM	GRCh37	10	3190197	3190197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	79	6	.	.	ENST00000380989.2:c.2054G>T	p.Trp685Leu	p.W685L	ENST00000380989	NM_014889.3	685	tGg/tTg	0	1		UPI00001F8A38	0	NA	ENST00000224949		ENSG00000107959	17663		85	1.55		HGNC	p.W684L		PITRM1		SNV							ENST00000224949	protein_coding	getma.org/?cm=var&var=hg19,10,3190197,C,A&fts=all		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF68,Pfam_domain:PF08367,Gene3D:3.30.830.10,Superfamily_domains:SSF63411		W/L		A	low	2086/3450		getma.org/?cm=msa&ty=f&p=PREP_HUMAN&rb=504&re=752&var=W684L	deleterious(0.02)					PITRM1,missense_variant,p.Trp685Leu,ENST00000380989,NM_014889.3,NM_001242307.1;PITRM1,missense_variant,p.Trp684Leu,ENST00000224949,;PITRM1,missense_variant,p.Trp242Leu,ENST00000380994,;PITRM1,missense_variant,p.Trp18Leu,ENST00000451454,;PITRM1,intron_variant,,ENST00000451104,NM_001242309.1;PITRM1,downstream_gene_variant,,ENST00000430362,;PITRM1,upstream_gene_variant,,ENST00000455371,;PITRM1,upstream_gene_variant,,ENST00000424714,;PITRM1-AS1,intron_variant,,ENST00000598280,;PITRM1-AS1,intron_variant,,ENST00000601046,;PITRM1-AS1,downstream_gene_variant,,ENST00000441377,;PITRM1,non_coding_transcript_exon_variant,,ENST00000464395,;PITRM1-AS1,non_coding_transcript_exon_variant,,ENST00000430356,;							MODERATE	2051/3114	W684L	PREP_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000224949		CCDS59208.1			1	
MCF2L2	0	LGGM	GRCh37	3	182933848	182933848	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	85	6	.	.	ENST00000328913.3:c.2405C>A	p.Ser802Ter	p.S802*	ENST00000328913	NM_015078.2	802	tCa/tAa	0	1	1	UPI00001A962F	0	NA	ENST00000328913		ENSG00000053524	30319		91	0		HGNC	p.S802X		MCF2L2		SNV			1				ENST00000473233	protein_coding	getma.org/?cm=var&var=hg19,3,182933848,G,T&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065		S/*		T	NA	2703/4980		NA		C9J326_HUMAN			YES	MCF2L2,stop_gained,p.Ser802Ter,ENST00000328913,NM_015078.2;MCF2L2,stop_gained,p.Ser802Ter,ENST00000473233,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;							HIGH	2405/3345	S802*	MF2L2_HUMAN			Transcript			.	ENSP00000328118		CCDS3243.1			1	
KLHL41	0	LGGM	GRCh37	2	170366397	170366397	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	100	6	.	.	ENST00000284669.1:c.109C>A	p.Leu37Ile	p.L37I	ENST00000284669	NM_006063.2	37	Cta/Ata	0	1	1	UPI0000000DC5	0	getma.org/pdb.php?prot=KBTBA_HUMAN&from=23&to=130&var=L37I	ENST00000284669		ENSG00000239474	16905		106	1.265		HGNC	p.L37I		KLHL41		SNV			1				ENST00000284669	protein_coding	getma.org/?cm=var&var=hg19,2,170366397,C,A&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695		L/I		A	low	186/2464		getma.org/?cm=msa&ty=f&p=KBTBA_HUMAN&rb=23&re=130&var=L37I	deleterious(0.01)				YES	KLHL41,missense_variant,p.Leu37Ile,ENST00000284669,NM_006063.2;RP11-724O16.1,intron_variant,,ENST00000513963,;BBS5,intron_variant,,ENST00000554017,;BBS5,downstream_gene_variant,,ENST00000295240,NM_152384.2;BBS5,downstream_gene_variant,,ENST00000392663,;KLHL41,upstream_gene_variant,,ENST00000463400,;KLHL41,upstream_gene_variant,,ENST00000480330,;BBS5,downstream_gene_variant,,ENST00000472667,;							MODERATE	109/1821	L37I	KLH41_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000284669		CCDS2234.1			1	
PRAM1	0	LGGM	GRCh37	19	8555863	8555863	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	76	6	.	.	ENST00000423345.4:c.1651C>A	p.Gln551Lys	p.Q551K	ENST00000423345		551	Cag/Aag	0	1	1	UPI00001AE786	0	NA	ENST00000423345		ENSG00000133246	30091		82	1.79		HGNC	p.Q551K		PRAM1		SNV							ENST00000423345	protein_coding	getma.org/?cm=var&var=hg19,19,8555863,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16830:SF6,hmmpanther:PTHR16830		Q/K		T	low	2172/2667		getma.org/?cm=msa&ty=f&p=PRAM_HUMAN&rb=483&re=682&var=Q599K	tolerated(0.07)				YES	PRAM1,missense_variant,p.Gln551Lys,ENST00000423345,;PRAM1,missense_variant,p.Gln550Lys,ENST00000255612,NM_032152.4;HNRNPM,downstream_gene_variant,,ENST00000348943,NM_031203.3;HNRNPM,downstream_gene_variant,,ENST00000325495,NM_005968.4;HNRNPM,downstream_gene_variant,,ENST00000597270,;HNRNPM,downstream_gene_variant,,ENST00000596295,;HNRNPM,downstream_gene_variant,,ENST00000598999,;HNRNPM,downstream_gene_variant,,ENST00000602219,;HNRNPM,downstream_gene_variant,,ENST00000597081,;PRAM1,non_coding_transcript_exon_variant,,ENST00000594696,;HNRNPM,downstream_gene_variant,,ENST00000600806,;PRAM1,upstream_gene_variant,,ENST00000599698,;							MODERATE	1651/2013	Q599K	PRAM_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000408342		CCDS45954.2			1	
ORC5	0	LGGM	GRCh37	7	103808969	103808969	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	95	6	.	.	ENST00000297431.4:c.829C>A	p.Gln277Lys	p.Q277K	ENST00000297431	NM_002553.3	277	Cag/Aag	0	1	1	UPI0000001C1C	0	NA	ENST00000297431		ENSG00000164815	8491		101	1.625		HGNC	p.Q277K		ORC5		SNV							ENST00000447452	protein_coding	getma.org/?cm=var&var=hg19,7,103808969,G,T&fts=all		Pfam_domain:PF14630,hmmpanther:PTHR12705		Q/K		T	low	972/1958		getma.org/?cm=msa&ty=f&p=ORC5_HUMAN&rb=156&re=355&var=Q277K	tolerated(0.13)	Q9UDM8_HUMAN,Q8NDU9_HUMAN,B4DXT8_HUMAN,A4D0P7_HUMAN			YES	ORC5,missense_variant,p.Gln145Lys,ENST00000545943,;ORC5,missense_variant,p.Gln277Lys,ENST00000297431,NM_002553.3;ORC5,missense_variant,p.Gln277Lys,ENST00000447452,NM_181747.3;ORC5,3_prime_UTR_variant,,ENST00000422497,;ORC5,upstream_gene_variant,,ENST00000477223,;							MODERATE	829/1308	Q277K	ORC5_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000297431		CCDS5734.1			1	
DSCAML1	0	LGGM	GRCh37	11	117403099	117403099	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	6	.	.	ENST00000321322.6:c.830C>A	p.Ser277Tyr	p.S277Y	ENST00000321322	NM_020693.2	277	tCt/tAt	0	1	1	UPI00000726E2	0	NA	ENST00000321322		ENSG00000177103	14656		21	0.895		HGNC	p.S277Y		DSCAML1		SNV							ENST00000321322	protein_coding	getma.org/?cm=var&var=hg19,11,117403099,G,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/Y		T	low	832/6899		getma.org/?cm=msa&ty=f&p=DSCL1_HUMAN&rb=126&re=218&var=S217Y	tolerated(1)				YES	DSCAML1,missense_variant,p.Ser277Tyr,ENST00000321322,NM_020693.2;DSCAML1,intron_variant,,ENST00000527706,;							MODERATE	830/6342	S217Y	DSCL1_HUMAN			Transcript		benign(0.381)	.	ENSP00000315465		CCDS8384.1			1	
PTGS2	0	LGGM	GRCh37	1	186648227	186648227	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	6	.	.	ENST00000367468.5:c.276C>A	p.Pro92=	p.P92=	ENST00000367468	NM_000963.2	92	ccC/ccA	0	1	1	UPI000000D926	0		ENST00000367468		ENSG00000073756	9605		51			HGNC	p.P92P		PTGS2		SNV							ENST00000559627	protein_coding			Gene3D:1.10.640.10,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF8,Superfamily_domains:SSF48113		P		T		413/4514				D9MWI3_HUMAN			YES	PTGS2,synonymous_variant,p.=,ENST00000367468,NM_000963.2;RP5-973M2.2,upstream_gene_variant,,ENST00000608917,;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,non_coding_transcript_exon_variant,,ENST00000559800,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,synonymous_variant,p.=,ENST00000559627,;							LOW	276/1815		PGH2_HUMAN			Transcript			.	ENSP00000356438		CCDS1371.1			1	
CFI	0	LGGM	GRCh37	4	110685732	110685732	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	6	.	.	ENST00000394634.2:c.443G>T	p.Arg148Met	p.R148M	ENST00000394634	NM_000204.3	148	aGg/aTg	0	1	1	UPI0000D615A9	0	getma.org/pdb.php?prot=CFAI_HUMAN&from=117&to=215&var=R148M	ENST00000394634		ENSG00000205403	5394		51	1.015		HGNC	p.R148M		CFI		SNV			1				ENST00000394635	protein_coding	getma.org/?cm=var&var=hg19,4,110685732,C,A&fts=all		Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF13,PROSITE_profiles:PS50287		R/M		A	low	651/2157		getma.org/?cm=msa&ty=f&p=CFAI_HUMAN&rb=117&re=215&var=R148M	tolerated(0.12)	Q6LAM0_HUMAN,D6R9Z8_HUMAN			YES	CFI,missense_variant,p.Arg148Met,ENST00000394634,NM_000204.3;CFI,missense_variant,p.Arg148Met,ENST00000394635,;CFI,missense_variant,p.Arg148Met,ENST00000512148,;CFI,missense_variant,p.Arg148Met,ENST00000510800,;CFI,upstream_gene_variant,,ENST00000504853,;							MODERATE	443/1752	R148M	CFAI_HUMAN			Transcript		possibly_damaging(0.579)	.	ENSP00000378130		CCDS34049.1			1	
ADAR	0	LGGM	GRCh37	1	154569629	154569629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	24	6	.	.	ENST00000368474.4:c.2049G>T	p.Glu683Asp	p.E683D	ENST00000368474	NM_001111.4	683	gaG/gaT	0	1	1	UPI000045626B	0	NA	ENST00000368474		ENSG00000160710	225		30	0.975		HGNC	p.E726D		ADAR		SNV			1				ENST00000292205	protein_coding	getma.org/?cm=var&var=hg19,1,154569629,C,A&fts=all		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,Superfamily_domains:SSF54768		E/D		A	low	2249/6620		getma.org/?cm=msa&ty=f&p=DSRAD_HUMAN&rb=681&re=726&var=E683D	tolerated(0.38)				YES	ADAR,missense_variant,p.Glu683Asp,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,missense_variant,p.Glu726Asp,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,missense_variant,p.Glu388Asp,ENST00000368471,;ADAR,missense_variant,p.Glu678Asp,ENST00000529168,;ADAR,downstream_gene_variant,,ENST00000471068,;ADAR,downstream_gene_variant,,ENST00000494866,;ADAR,downstream_gene_variant,,ENST00000463920,;							MODERATE	2049/3681	E683D	DSRAD_HUMAN			Transcript		benign(0.138)	.	ENSP00000357459		CCDS1071.1			1	
RAB3IP	0	LGGM	GRCh37	12	70189144	70189144	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	6	.	.	ENST00000550536.1:c.936+20C>A		*312*	ENST00000550536	NM_175623.3			0	1	1	UPI000006EB02	0		ENST00000550536		ENSG00000127328	16508		84			HGNC	p.S303Y		RAB3IP		SNV							ENST00000378815	protein_coding							A		-/9646				F8VNX9_HUMAN			YES	RAB3IP,missense_variant,p.Ser303Tyr,ENST00000378815,;RAB3IP,intron_variant,,ENST00000550536,NM_175623.3,NM_175625.3;RAB3IP,intron_variant,,ENST00000247833,NM_022456.4;RAB3IP,intron_variant,,ENST00000551641,NM_001024647.3;RAB3IP,intron_variant,,ENST00000553099,NM_001278402.1;RAB3IP,intron_variant,,ENST00000362025,;RAB3IP,intron_variant,,ENST00000325555,;RAB3IP,intron_variant,,ENST00000483530,NM_175624.3;RAB3IP,intron_variant,,ENST00000526994,;RAB3IP,intron_variant,,ENST00000550647,;RAB3IP,upstream_gene_variant,,ENST00000550847,;RAB3IP,intron_variant,,ENST00000378809,;RAB3IP,intron_variant,,ENST00000552199,;RAB3IP,intron_variant,,ENST00000417413,;RAB3IP,downstream_gene_variant,,ENST00000547591,;							MODIFIER	-/1431		RAB3I_HUMAN			Transcript			.	ENSP00000447300		CCDS8993.1			1	
ZNF442	0	LGGM	GRCh37	19	12461618	12461618	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	135	6	.	.	ENST00000242804.4:c.781G>T	p.Gly261Trp	p.G261W	ENST00000242804	NM_030824.2	261	Ggg/Tgg	0	1	1	UPI000006D14F	0	getma.org/pdb.php?prot=ZN442_HUMAN&from=251&to=275&var=G261W	ENST00000242804		ENSG00000198342	20877		141	3.735		HGNC	p.G261W		ZNF442		SNV							ENST00000242804	protein_coding	getma.org/?cm=var&var=hg19,19,12461618,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF6,Superfamily_domains:SSF57667		G/W		A	high	1364/2797		getma.org/?cm=msa&ty=f&p=ZN442_HUMAN&rb=231&re=295&var=G261W	deleterious(0)	C9JC15_HUMAN,B4DJ48_HUMAN			YES	ZNF442,missense_variant,p.Gly261Trp,ENST00000242804,NM_030824.2;ZNF442,missense_variant,p.Gly192Trp,ENST00000438182,;ZNF442,downstream_gene_variant,,ENST00000424168,;CTD-3105H18.13,upstream_gene_variant,,ENST00000563695,;ZNF442,downstream_gene_variant,,ENST00000462995,;							MODERATE	781/1884	G261W	ZN442_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000242804		CCDS12271.1			1	
CSGALNACT2	0	LGGM	GRCh37	10	43678926	43678926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	127	6	.	.	ENST00000374466.3:c.1565G>T	p.Arg522Met	p.R522M	ENST00000374466	NM_018590.4	522	aGg/aTg	0	1	1	UPI000000D725	0	NA	ENST00000374466		ENSG00000169826	24292		133	2.38		HGNC	p.R522M		CSGALNACT2		SNV							ENST00000374466	protein_coding	getma.org/?cm=var&var=hg19,10,43678926,G,T&fts=all		Gene3D:3.90.550.10,hmmpanther:PTHR12369:SF19,hmmpanther:PTHR12369		R/M		T	medium	1900/3730		getma.org/?cm=msa&ty=f&p=CGAT2_HUMAN&rb=487&re=542&var=R522M	deleterious(0)				YES	CSGALNACT2,missense_variant,p.Arg522Met,ENST00000374466,NM_018590.4;							MODERATE	1565/1629	R522M	CGAT2_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000363590		CCDS7201.1			1	
ACBD3	0	LGGM	GRCh37	1	226346960	226346960	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	90	6	.	.	ENST00000366812.5:c.828C>A	p.Leu276=	p.L276=	ENST00000366812	NM_022735.3	276	ctC/ctA	0	1	1	UPI000006F1E1	0		ENST00000366812		ENSG00000182827	15453		96			HGNC	p.L276L		ACBD3		SNV							ENST00000366812	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22973:SF11,hmmpanther:PTHR22973		L		T		883/3573							YES	ACBD3,synonymous_variant,p.=,ENST00000366812,NM_022735.3;RP11-275I14.4,downstream_gene_variant,,ENST00000440540,;ACBD3,intron_variant,,ENST00000464927,;							LOW	828/1587		GCP60_HUMAN			Transcript			.	ENSP00000355777		CCDS1551.1			1	
TRHDE	0	LGGM	GRCh37	12	72866878	72866878	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	64	6	.	.	ENST00000261180.4:c.1367G>T	p.Trp456Leu	p.W456L	ENST00000261180	NM_013381.2	456	tGg/tTg	0	1	1	UPI0000136D52	0	getma.org/pdb.php?prot=TRHDE_HUMAN&from=140&to=530&var=W456L	ENST00000261180		ENSG00000072657	30748		70	4.075		HGNC	p.W456L		TRHDE		SNV							ENST00000261180	protein_coding	getma.org/?cm=var&var=hg19,12,72866878,G,T&fts=all		Prints_domain:PR00756,Superfamily_domains:SSF55486,Pfam_domain:PF01433,Gene3D:1.10.390.10,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40		W/L		T	high	1463/5618		getma.org/?cm=msa&ty=f&p=TRHDE_HUMAN&rb=140&re=530&var=W456L	deleterious(0)				YES	TRHDE,missense_variant,p.Trp456Leu,ENST00000261180,NM_013381.2;TRHDE,intron_variant,,ENST00000547300,;TRHDE,downstream_gene_variant,,ENST00000548156,;							MODERATE	1367/3075	W456L	TRHDE_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261180		CCDS9004.1			1	
ZNF479	0	LGGM	GRCh37	7	57193727	57193727	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	99	6	.	.	ENST00000331162.4:c.260C>A	p.Pro87Gln	p.P87Q	ENST00000331162	NM_033273.1	87	cCa/cAa	0	1	1	UPI000006E615	0	NA	ENST00000331162		ENSG00000185177	23258		105	2.315		HGNC	p.P87Q	COSM1549981	ZNF479		SNV						1	ENST00000331162	protein_coding	getma.org/?cm=var&var=hg19,7,57193727,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103		P/Q		T	medium	531/2072		getma.org/?cm=msa&ty=f&p=ZN479_HUMAN&rb=16&re=87&var=P87Q	deleterious(0)	I0EZ75_HUMAN			YES	ZNF479,missense_variant,p.Pro87Gln,ENST00000331162,NM_033273.1;					1		MODERATE	260/1575	P87Q	ZN479_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000333776		CCDS43590.1			1	
OSGEPL1	0	LGGM	GRCh37	2	190626195	190626195	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	101	6	.	.	ENST00000264151.5:c.172G>T	p.Gly58Ter	p.G58*	ENST00000264151	NM_022353.2	58	Gga/Tga	0	1	1	UPI000006D878	0	NA	ENST00000264151		ENSG00000128694	23075		107	0		HGNC	p.G58X		OSGEPL1		SNV							ENST00000519810	protein_coding	getma.org/?cm=var&var=hg19,2,190626195,C,A&fts=all		Gene3D:3.30.420.40,hmmpanther:PTHR11735,hmmpanther:PTHR11735:SF12,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR00329		G/*		A	NA	275/1885		NA		E7EVL7_HUMAN,E5RIL9_HUMAN,E5RGZ1_HUMAN			YES	OSGEPL1,stop_gained,p.Gly58Ter,ENST00000519810,;OSGEPL1,stop_gained,p.Gly58Ter,ENST00000264151,NM_022353.2;OSGEPL1,stop_gained,p.Gly58Ter,ENST00000522700,;OSGEPL1,stop_gained,p.Gly58Ter,ENST00000517895,;OSGEPL1,stop_gained,p.Gly58Ter,ENST00000521630,;OSGEPL1,5_prime_UTR_variant,,ENST00000520350,;RP11-455J20.3,downstream_gene_variant,,ENST00000608680,;OSGEPL1-AS1,upstream_gene_variant,,ENST00000523895,;OSGEPL1-AS1,upstream_gene_variant,,ENST00000521819,;OSGEPL1-AS1,upstream_gene_variant,,ENST00000520651,;OSGEPL1,non_coding_transcript_exon_variant,,ENST00000518114,;OSGEPL1,non_coding_transcript_exon_variant,,ENST00000524043,;ANKAR,downstream_gene_variant,,ENST00000441800,;							HIGH	172/1245	G58*	OSGP2_HUMAN			Transcript			.	ENSP00000264151		CCDS46472.1			1	
MMP19	0	LGGM	GRCh37	12	56230897	56230897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	75	6	.	.	ENST00000322569.4:c.1450G>T	p.Gly484Trp	p.G484W	ENST00000322569	NM_002429.5	484	Ggg/Tgg	0	1	1	UPI0000030AE6	0	NA	ENST00000322569		ENSG00000123342	7165		81	0.975		HGNC	p.G198W		MMP19		SNV							ENST00000394182	protein_coding	getma.org/?cm=var&var=hg19,12,56230897,C,A&fts=all		hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,Low_complexity_(Seg):seg		G/W		A	low	1542/2229		getma.org/?cm=msa&ty=f&p=MMP19_HUMAN&rb=473&re=508&var=G484W	deleterious_low_confidence(0)				YES	MMP19,missense_variant,p.Gly198Trp,ENST00000394182,;MMP19,missense_variant,p.Gly484Trp,ENST00000322569,NM_002429.5;MMP19,missense_variant,p.Gly461Trp,ENST00000548629,;MMP19,3_prime_UTR_variant,,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,;							MODERATE	1450/1527	G484W	MMP19_HUMAN			Transcript		unknown(0)	.	ENSP00000313437		CCDS8895.1			1	
USP6	0	LGGM	GRCh37	17	5066291	5066291	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	81	6	.	.	ENST00000574788.1:c.3028C>A	p.Gln1010Lys	p.Q1010K	ENST00000574788		1010	Cag/Aag	0	1		UPI000006226F	0	NA	ENST00000250066		ENSG00000129204	12629		87	1.2		HGNC	p.Q693K		USP6		SNV							ENST00000304328	protein_coding	getma.org/?cm=var&var=hg19,17,5066291,C,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Pfam_domain:PF00443		Q/K		A	low	4727/7976		getma.org/?cm=msa&ty=f&p=UBP6_HUMAN&rb=529&re=1366&var=Q1010K	tolerated_low_confidence(0.74)	Q6U210_HUMAN				USP6,missense_variant,p.Gln1010Lys,ENST00000574788,;USP6,missense_variant,p.Gln693Lys,ENST00000304328,;USP6,missense_variant,p.Gln1010Lys,ENST00000250066,NM_004505.2;USP6,3_prime_UTR_variant,,ENST00000332776,;USP6,3_prime_UTR_variant,,ENST00000575709,;USP6,3_prime_UTR_variant,,ENST00000572949,;							MODERATE	3028/4221	Q1010K	UBP6_HUMAN			Transcript		benign(0.314)	.	ENSP00000250066		CCDS11069.2			1	
RPL4	0	LGGM	GRCh37	15	66795440	66795440	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	6	.	.	ENST00000307961.6:c.238C>T	p.Arg80Ter	p.R80*	ENST00000307961	NM_000968.3	80	Cga/Tga	0	1	1	UPI00001340F1	0	NA	ENST00000307961		ENSG00000174444	10353		15	0		HGNC	p.R80X		RPL4		SNV							ENST00000569696	protein_coding	getma.org/?cm=var&var=hg19,15,66795440,G,A&fts=all		hmmpanther:PTHR19431,Gene3D:3.40.1370.10,Pfam_domain:PF00573,Superfamily_domains:SSF52166		R/*		A	NA	331/2767		NA		H3BM89_HUMAN			YES	RPL4,stop_gained,p.Arg80Ter,ENST00000307961,NM_000968.3;RPL4,stop_gained,p.Arg80Ter,ENST00000569696,;RPL4,stop_gained,p.Arg80Ter,ENST00000569438,;RPL4,5_prime_UTR_variant,,ENST00000568588,;ZWILCH,upstream_gene_variant,,ENST00000307897,NM_017975.3,NM_001287823.1;ZWILCH,upstream_gene_variant,,ENST00000446801,NM_001287821.1;ZWILCH,upstream_gene_variant,,ENST00000535141,;ZWILCH,upstream_gene_variant,,ENST00000565627,;ZWILCH,upstream_gene_variant,,ENST00000564179,;SNORD16,upstream_gene_variant,,ENST00000362803,NR_002440.1;SNORD18A,downstream_gene_variant,,ENST00000363753,NR_002441.1;SNORD18B,upstream_gene_variant,,ENST00000365659,NR_002442.1;SNORD18C,upstream_gene_variant,,ENST00000362704,NR_002443.1;ZWILCH,upstream_gene_variant,,ENST00000565960,;RPL4,downstream_gene_variant,,ENST00000564517,;ZWILCH,upstream_gene_variant,,ENST00000564309,;RPL4,upstream_gene_variant,,ENST00000563473,;RPL4,upstream_gene_variant,,ENST00000565723,;RPL4,non_coding_transcript_exon_variant,,ENST00000567229,;RPL4,non_coding_transcript_exon_variant,,ENST00000566039,;RPL4,non_coding_transcript_exon_variant,,ENST00000566624,;RPL4,non_coding_transcript_exon_variant,,ENST00000566622,;RPL4,non_coding_transcript_exon_variant,,ENST00000566491,;RPL4,non_coding_transcript_exon_variant,,ENST00000564439,;RPL4,non_coding_transcript_exon_variant,,ENST00000561554,;RPL4,intron_variant,,ENST00000561775,;RPL4,upstream_gene_variant,,ENST00000564647,;RPL4,upstream_gene_variant,,ENST00000564744,;ZWILCH,upstream_gene_variant,,ENST00000567926,;ZWILCH,upstream_gene_variant,,ENST00000563698,;							HIGH	238/1284	R80*	RL4_HUMAN			Transcript			.	ENSP00000311430		CCDS10218.1			1	
FLT1	0	LGGM	GRCh37	13	28964124	28964124	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	65	6	.	.	ENST00000282397.4:c.1778G>T	p.Arg593Leu	p.R593L	ENST00000282397	NM_002019.4	593	cGg/cTg	0	1	1	UPI000013DCDD	0	getma.org/pdb.php?prot=VGFR1_HUMAN&from=563&to=651&var=R593L	ENST00000282397		ENSG00000102755	3763		71	2.095		HGNC	p.R593L		FLT1		SNV							ENST00000541932	protein_coding	getma.org/?cm=var&var=hg19,13,28964124,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF126,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726		R/L		A	medium	2030/7084		getma.org/?cm=msa&ty=f&p=VGFR1_HUMAN&rb=563&re=651&var=R593L	tolerated(0.05)	S5U0M6_HUMAN,S5TRK2_HUMAN,L7RSL3_HUMAN,H9N1E8_HUMAN,H9N1E7_HUMAN			YES	FLT1,missense_variant,p.Arg593Leu,ENST00000282397,NM_002019.4;FLT1,missense_variant,p.Arg593Leu,ENST00000541932,NM_001160030.1;							MODERATE	1778/4017	R593L	VGFR1_HUMAN			Transcript		benign(0.076)	.	ENSP00000282397		CCDS9330.1			1	
MCM8	0	LGGM	GRCh37	20	5953781	5953781	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	93	6	.	.	ENST00000378896.3:c.1334G>T	p.Arg445Leu	p.R445L	ENST00000378896	NM_001281520.1	445	cGg/cTg	0	1	1	UPI000012EDA1	0	getma.org/pdb.php?prot=MCM8_HUMAN&from=389&to=749&var=R445L	ENST00000378896		ENSG00000125885	16147		99	4.295		HGNC	p.R445L		MCM8		SNV							ENST00000378896	protein_coding	getma.org/?cm=var&var=hg19,20,5953781,G,T&fts=all		PROSITE_profiles:PS50051,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF47,Pfam_domain:PF00493,Gene3D:3.40.50.300,SMART_domains:SM00350,Superfamily_domains:SSF52540,Prints_domain:PR01657		R/L		T	high	1711/3715		getma.org/?cm=msa&ty=f&p=MCM8_HUMAN&rb=389&re=749&var=R445L	deleterious(0)				YES	MCM8,missense_variant,p.Arg445Leu,ENST00000378896,NM_001281520.1,NM_032485.5,NM_182802.2;MCM8,missense_variant,p.Arg429Leu,ENST00000265187,;MCM8,missense_variant,p.Arg485Leu,ENST00000378886,NM_001281521.1;MCM8,intron_variant,,ENST00000378883,NM_001281522.1;							MODERATE	1334/2523	R445L	MCM8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368174		CCDS13094.1			1	
UGT8	0	LGGM	GRCh37	4	115544760	115544760	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	6	.	.	ENST00000310836.6:c.724C>T	p.Leu242=	p.L242=	ENST00000310836	NM_001128174.1	242	Ctg/Ttg	0	1	1	UPI000013F094	0		ENST00000310836		ENSG00000174607	12555		25			HGNC	p.L242L		UGT8		SNV							ENST00000310836	protein_coding			Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF169,Superfamily_domains:SSF53756		L		T		1246/4084				D6RFW2_HUMAN			YES	UGT8,synonymous_variant,p.=,ENST00000310836,NM_001128174.1;UGT8,synonymous_variant,p.=,ENST00000394511,NM_003360.3;UGT8,downstream_gene_variant,,ENST00000507710,;							LOW	724/1626		CGT_HUMAN			Transcript			.	ENSP00000311648		CCDS3705.1			1	
CCDC149	0	LGGM	GRCh37	4	24839894	24839894	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	6	.	.	ENST00000504487.1:c.373C>A	p.Leu125Ile	p.L125I	ENST00000504487	NM_001130726.2	125	Ctc/Atc	0	1	1	UPI00005A7F29	0	NA	ENST00000504487		ENSG00000181982	25405		28	2.33		HGNC	p.L125I		CCDC149		SNV							ENST00000504487	protein_coding	getma.org/?cm=var&var=hg19,4,24839894,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21682,hmmpanther:PTHR21682:SF1,Pfam_domain:PF09789		L/I		T	medium	380/3869		getma.org/?cm=msa&ty=f&p=CC149_HUMAN&rb=1&re=283&var=L70I	deleterious(0.04)				YES	CCDC149,missense_variant,p.Leu125Ile,ENST00000504487,NM_001130726.2;CCDC149,missense_variant,p.Leu125Ile,ENST00000389609,NM_173463.4;CCDC149,intron_variant,,ENST00000428116,;CCDC149,intron_variant,,ENST00000502801,;CCDC149,splice_region_variant,,ENST00000512432,;CCDC149,splice_region_variant,,ENST00000324309,;							MODERATE	373/1590	L70I	CC149_HUMAN			Transcript		possibly_damaging(0.767)	.	ENSP00000425715		CCDS47036.1			1	
PKNOX2	0	LGGM	GRCh37	11	125298941	125298941	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	6	.	.	ENST00000298282.9:c.970A>G	p.Ile324Val	p.I324V	ENST00000298282	NM_022062.2	324	Atc/Gtc	0	1	1	UPI000023271E	0	getma.org/pdb.php?prot=PKNX2_HUMAN&from=306&to=345&var=I324V	ENST00000298282		ENSG00000165495	16714		25	1.465		HGNC	p.I295V		PKNOX2		SNV							ENST00000530517	protein_coding	getma.org/?cm=var&var=hg19,11,125298941,A,G&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR11850:SF53,hmmpanther:PTHR11850,Pfam_domain:PF05920,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689		I/V		G	low	1241/3687		getma.org/?cm=msa&ty=f&p=PKNX2_HUMAN&rb=306&re=345&var=I324V	deleterious(0)	H0YLX0_HUMAN,E9PRB6_HUMAN,E9PKL2_HUMAN,B7ZAF3_HUMAN			YES	PKNOX2,missense_variant,p.Ile324Val,ENST00000298282,NM_022062.2;PKNOX2,missense_variant,p.Ile260Val,ENST00000542175,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000530517,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000531116,;PKNOX2,3_prime_UTR_variant,,ENST00000532623,;PKNOX2,non_coding_transcript_exon_variant,,ENST00000526955,;							MODERATE	970/1419	I324V	PKNX2_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000298282		CCDS41730.1			1	
AKAP8L	0	LGGM	GRCh37	19	15511152	15511152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	76	6	.	.	ENST00000397410.5:c.1002G>T	p.Glu334Asp	p.E334D	ENST00000397410	NM_014371.2	334	gaG/gaT	0	1	1	UPI0000169486	0	NA	ENST00000397410		ENSG00000011243	29857		82	0.345		HGNC	p.E334D		AKAP8L		SNV							ENST00000397410	protein_coding	getma.org/?cm=var&var=hg19,19,15511152,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12190,hmmpanther:PTHR12190:SF4		E/D		A	neutral	1133/2146		getma.org/?cm=msa&ty=f&p=AKP8L_HUMAN&rb=1&re=384&var=E334D	tolerated(0.15)	Q9UF73_HUMAN,B3KMD4_HUMAN			YES	AKAP8L,missense_variant,p.Glu334Asp,ENST00000397410,NM_014371.2;AKAP8L,missense_variant,p.Glu273Asp,ENST00000595465,;AKAP8L,downstream_gene_variant,,ENST00000600247,;AKAP8L,downstream_gene_variant,,ENST00000596195,;AKAP8L,downstream_gene_variant,,ENST00000595067,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000595879,;AKAP8L,upstream_gene_variant,,ENST00000600065,;AKAP8L,downstream_gene_variant,,ENST00000595136,;AKAP8L,downstream_gene_variant,,ENST00000599488,;AKAP8L,downstream_gene_variant,,ENST00000597994,;AKAP8L,missense_variant,p.Glu300Asp,ENST00000609519,;AKAP8L,3_prime_UTR_variant,,ENST00000594594,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000593845,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000594893,;AKAP8L,non_coding_transcript_exon_variant,,ENST00000596750,;AKAP8L,downstream_gene_variant,,ENST00000596213,;AKAP8L,upstream_gene_variant,,ENST00000595087,;AKAP8L,downstream_gene_variant,,ENST00000598292,;AKAP8L,downstream_gene_variant,,ENST00000599137,;AKAP8L,downstream_gene_variant,,ENST00000601147,;							MODERATE	1002/1941	E334D	AKP8L_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000380557		CCDS46005.1			1	
HEMGN	0	LGGM	GRCh37	9	100692509	100692509	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	102	6	.	.	ENST00000259456.3:c.1168C>A	p.Gln390Lys	p.Q390K	ENST00000259456	NM_018437.4	390	Cag/Aag	0	1	1	UPI000004D311	0	NA	ENST00000259456		ENSG00000136929	17509		108	0.69		HGNC	p.Q390K		HEMGN		SNV							ENST00000259456	protein_coding	getma.org/?cm=var&var=hg19,9,100692509,G,T&fts=all		hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993		Q/K		T	neutral	1312/2192		getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=Q390K	tolerated(0.95)				YES	HEMGN,missense_variant,p.Gln390Lys,ENST00000259456,NM_018437.4,NM_197978.2;							MODERATE	1168/1455	Q390K	HEMGN_HUMAN			Transcript		benign(0.039)	.	ENSP00000259456		CCDS6731.1			1	
ABI3BP	0	LGGM	GRCh37	3	100645177	100645177	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	114	6	.	.	ENST00000284322.5:c.249C>A	p.Pro83=	p.P83=	ENST00000284322	NM_015429.3	83	ccC/ccA	0	1	1	UPI000011C136	0		ENST00000284322		ENSG00000154175	17265		120			HGNC	p.P83P		ABI3BP		SNV							ENST00000284322	protein_coding			hmmpanther:PTHR23197		P		T		359/4498							YES	ABI3BP,synonymous_variant,p.=,ENST00000471714,;ABI3BP,synonymous_variant,p.=,ENST00000284322,NM_015429.3;ABI3BP,synonymous_variant,p.=,ENST00000495063,;ABI3BP,intron_variant,,ENST00000530539,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000532144,;ABI3BP,3_prime_UTR_variant,,ENST00000530236,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000475896,;							LOW	249/3228		TARSH_HUMAN			Transcript			.	ENSP00000284322		CCDS46880.1			1	
NAV2	0	LGGM	GRCh37	11	20089893	20089893	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	6	.	.	ENST00000396087.3:c.5100G>T	p.Leu1700=	p.L1700=	ENST00000396087	NM_001244963.1	1700	ctG/ctT	0	1	1	UPI00001E0580	0		ENST00000396087		ENSG00000166833	15997		79			HGNC	p.L1580L		NAV2		SNV							ENST00000360655	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		L		T		5199/7882							YES	NAV2,synonymous_variant,p.=,ENST00000396085,NM_182964.5;NAV2,synonymous_variant,p.=,ENST00000349880,NM_145117.4;NAV2,synonymous_variant,p.=,ENST00000360655,NM_001111018.1;NAV2,synonymous_variant,p.=,ENST00000540292,;NAV2,synonymous_variant,p.=,ENST00000527559,;NAV2,synonymous_variant,p.=,ENST00000396087,NM_001244963.1;NAV2,synonymous_variant,p.=,ENST00000311043,;NAV2,synonymous_variant,p.=,ENST00000533917,NM_001111019.2;NAV2,synonymous_variant,p.=,ENST00000525322,;							LOW	5100/7467		NAV2_HUMAN			Transcript			.	ENSP00000379396		CCDS58126.1			1	
TBCEL	0	LGGM	GRCh37	11	120929097	120929097	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	58	6	.	.	ENST00000422003.2:c.756C>A	p.Pro252=	p.P252=	ENST00000422003	NM_152715.3	252	ccC/ccA	0	1	1	UPI0000D62697	0		ENST00000422003		ENSG00000154114	28115		64			HGNC	p.P252P		TBCEL		SNV							ENST00000422003	protein_coding			Gene3D:3.80.10.10,hmmpanther:PTHR15140,hmmpanther:PTHR15140:SF10,Superfamily_domains:SSF52058		P		A		944/5142				E9PNS0_HUMAN,E9PJJ0_HUMAN			YES	TBCEL,synonymous_variant,p.=,ENST00000422003,NM_152715.3;TBCEL,synonymous_variant,p.=,ENST00000529397,NM_001130047.1;TBCEL,synonymous_variant,p.=,ENST00000533134,;TBCEL,downstream_gene_variant,,ENST00000524726,;TBCEL,3_prime_UTR_variant,,ENST00000284259,;TBCEL,3_prime_UTR_variant,,ENST00000531148,;TBCEL,3_prime_UTR_variant,,ENST00000533712,;TBCEL,non_coding_transcript_exon_variant,,ENST00000533169,;							LOW	756/1275		TBCEL_HUMAN			Transcript			.	ENSP00000403925		CCDS31692.1			1	
C11orf65	0	LGGM	GRCh37	11	108256688	108256688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	133	6	.	.	ENST00000393084.1:c.746G>T	p.Trp249Leu	p.W249L	ENST00000393084	NM_152587.3	249	tGg/tTg	0	1	1	UPI000006DEE6	0	NA	ENST00000393084		ENSG00000166323	28519		139	2.395		HGNC	p.W249L		C11orf65		SNV							ENST00000393084	protein_coding	getma.org/?cm=var&var=hg19,11,108256688,C,A&fts=all				W/L		A	medium	816/1033		getma.org/?cm=msa&ty=f&p=CK065_HUMAN&rb=34&re=310&var=W249L	deleterious(0)				YES	C11orf65,missense_variant,p.Trp200Leu,ENST00000525729,;C11orf65,missense_variant,p.Trp249Leu,ENST00000393084,NM_152587.3;C11orf65,missense_variant,p.Trp249Leu,ENST00000529391,;C11orf65,intron_variant,,ENST00000524755,;C11orf65,intron_variant,,ENST00000526725,;C11orf65,missense_variant,p.Trp249Leu,ENST00000527531,;							MODERATE	746/942	W249L	CK065_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376799		CCDS8340.1			1	
ST3GAL4	0	LGGM	GRCh37	11	126277155	126277155	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	119	6	.	.	ENST00000526727.1:c.191G>T	p.Arg64Leu	p.R64L	ENST00000526727		64	cGg/cTg	0	1		UPI0000000CA8	0	NA	ENST00000392669		ENSG00000110080	10864		125	1.385		HGNC	p.R59L		ST3GAL4		SNV							ENST00000534457	protein_coding	getma.org/?cm=var&var=hg19,11,126277155,G,T&fts=all		hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF7,PIRSF_domain:PIRSF005557		R/L		T	low	322/1724		getma.org/?cm=msa&ty=f&p=SIA4C_HUMAN&rb=1&re=68&var=R64L	deleterious(0)	E9PQZ2_HUMAN,E9PPJ6_HUMAN,E9PNJ9_HUMAN,E9PMC7_HUMAN				ST3GAL4,missense_variant,p.Arg64Leu,ENST00000526727,;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000534083,NM_006278.2;ST3GAL4,missense_variant,p.Arg63Leu,ENST00000532243,NM_001254759.1;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000444328,NM_001254757.1;ST3GAL4,missense_variant,p.Arg70Leu,ENST00000356132,;ST3GAL4,missense_variant,p.Arg60Leu,ENST00000227495,;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000392669,NM_001254758.1;ST3GAL4,missense_variant,p.Arg53Leu,ENST00000449406,;ST3GAL4,missense_variant,p.Arg60Leu,ENST00000530591,;ST3GAL4,missense_variant,p.Arg59Leu,ENST00000534457,;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000528858,;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000526311,;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000534452,;ST3GAL4,5_prime_UTR_variant,,ENST00000524860,;ST3GAL4,non_coding_transcript_exon_variant,,ENST00000526756,;ST3GAL4,non_coding_transcript_exon_variant,,ENST00000524834,;ST3GAL4,missense_variant,p.Arg64Leu,ENST00000531217,;ST3GAL4,non_coding_transcript_exon_variant,,ENST00000528605,;ST3GAL4,upstream_gene_variant,,ENST00000533826,;ST3GAL4,downstream_gene_variant,,ENST00000534733,;							MODERATE	191/1002	R64L	SIA4C_HUMAN			Transcript		possibly_damaging(0.519)	.	ENSP00000376437		CCDS58193.1			1	
AFTPH	0	LGGM	GRCh37	2	64794746	64794746	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	122	6	.	.	ENST00000238855.7:c.1986C>A	p.Ser662=	p.S662=	ENST00000238855	NM_203437.3	662	tcC/tcA	0	1	1	UPI00003E1F8E	0		ENST00000238855		ENSG00000119844	25951		128			HGNC	p.S293S		AFTPH		SNV							ENST00000409183	protein_coding			hmmpanther:PTHR16156:SF9,hmmpanther:PTHR16156		S		A		2300/4087							YES	AFTPH,synonymous_variant,p.=,ENST00000422803,;AFTPH,synonymous_variant,p.=,ENST00000238855,NM_203437.3;AFTPH,synonymous_variant,p.=,ENST00000238856,NM_001002243.2,NM_017657.4;AFTPH,synonymous_variant,p.=,ENST00000409933,;AFTPH,synonymous_variant,p.=,ENST00000409183,;AFTPH,intron_variant,,ENST00000487769,;AFTPH,non_coding_transcript_exon_variant,,ENST00000498706,;							LOW	1986/2811		AFTIN_HUMAN			Transcript			.	ENSP00000238855		CCDS46303.1			1	
TTN	0	LGGM	GRCh37	2	179442902	179442902	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	114	6	.	.	ENST00000589042.1:c.68340C>A	p.Leu22780=	p.L22780=	ENST00000589042	NM_001267550.1	22780	ctC/ctA	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		120			HGNC	p.L13840L		TTN		SNV			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		L		T		63642/104301				C9JQJ2_HUMAN				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,;RP11-171I2.2,upstream_gene_variant,,ENST00000603521,;RP11-171I2.5,downstream_gene_variant,,ENST00000604215,;							LOW	63417/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
AOX1	0	LGGM	GRCh37	2	201469422	201469422	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	54	6	.	.	ENST00000374700.2:c.673A>G	p.Met225Val	p.M225V	ENST00000374700	NM_001159.3	225	Atg/Gtg	0	1	1	UPI0000071863	0	getma.org/pdb.php?prot=ADO_HUMAN&from=164&to=238&var=M225V	ENST00000374700		ENSG00000138356	553		60	2.065		HGNC	p.M225V		AOX1		SNV							ENST00000374700	protein_coding	getma.org/?cm=var&var=hg19,2,201469422,A,G&fts=all		hmmpanther:PTHR11908,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56176		M/V		G	medium	914/5070		getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=164&re=238&var=M225V	deleterious(0.04)	C9J244_HUMAN,B4DNI5_HUMAN			YES	AOX1,missense_variant,p.Met225Val,ENST00000374700,NM_001159.3;AOX1,downstream_gene_variant,,ENST00000454629,;AOX1,upstream_gene_variant,,ENST00000485106,;AOX1,upstream_gene_variant,,ENST00000465297,;AOX1,upstream_gene_variant,,ENST00000485965,;							MODERATE	673/4017	M225V	ADO_HUMAN			Transcript		benign(0.033)	.	ENSP00000363832		CCDS33360.1			1	
LGR5	0	LGGM	GRCh37	12	71978487	71978487	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	69	6	.	.	ENST00000266674.5:c.2697C>A	p.Ser899=	p.S899=	ENST00000266674	NM_001277226.1	899	tcC/tcA	0	1	1	UPI000004B65C	0		ENST00000266674		ENSG00000139292	4504		75			HGNC	p.S827S		LGR5		SNV							ENST00000536515	protein_coding					S		A		3008/4611							YES	LGR5,synonymous_variant,p.=,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,synonymous_variant,p.=,ENST00000540815,;LGR5,synonymous_variant,p.=,ENST00000536515,;RP11-186F10.2,upstream_gene_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;							LOW	2697/2724		LGR5_HUMAN			Transcript			.	ENSP00000266674		CCDS9000.1			1	
MALRD1	0	LGGM	GRCh37	10	19739370	19739370	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	127	6	.	.	ENST00000377266.3:c.2953-38519G>T		*985*	ENST00000377266				0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		133			HGNC	p.L223L		MALRD1		SNV							ENST00000441070	protein_coding							T		-/4661								MALRD1,synonymous_variant,p.=,ENST00000441070,;MALRD1,intron_variant,,ENST00000454679,;MALRD1,intron_variant,,ENST00000377266,;							MODIFIER	-/4422		CJ112_HUMAN			Transcript			.	ENSP00000412763					1	
TRPM6	0	LGGM	GRCh37	9	77400922	77400922	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	68	6	.	.	ENST00000360774.1:c.2787G>T	p.Trp929Cys	p.W929C	ENST00000360774	NM_017662.4	929	tgG/tgT	0	1	1	UPI000006E041	0	NA	ENST00000360774		ENSG00000119121	17995		74	0.7		HGNC	p.W924C		TRPM6		SNV			1				ENST00000449912	protein_coding	getma.org/?cm=var&var=hg19,9,77400922,C,A&fts=all		hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800		W/C		A	neutral	3025/8425		getma.org/?cm=msa&ty=f&p=TRPM6_HUMAN&rb=873&re=1069&var=W929C	tolerated(0.09)				YES	TRPM6,missense_variant,p.Trp929Cys,ENST00000451710,;TRPM6,missense_variant,p.Trp929Cys,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Trp924Cys,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Trp924Cys,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Trp929Cys,ENST00000376864,;TRPM6,intron_variant,,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;							MODERATE	2787/6069	W929C	TRPM6_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000354006		CCDS6647.1			1	
NEB	0	LGGM	GRCh37	2	152476016	152476016	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	135	6	.	.	ENST00000397345.3:c.10821C>A	p.Pro3607=	p.P3607=	ENST00000397345	NM_001164508.1	3607	ccC/ccA	0	1		UPI0000212787	0		ENST00000172853		ENSG00000183091	7720		141			HGNC	p.P3607P		NEB		SNV			1				ENST00000397345	protein_coding			PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		P		T		10240/20577				J3QK84_HUMAN				NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;NEB,upstream_gene_variant,,ENST00000486320,;							LOW	10092/20010					Transcript			.	ENSP00000172853					1	
MAPK8	0	LGGM	GRCh37	10	49612981	49612981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	87	6	.	.	ENST00000374189.1:c.209C>A	p.Ala70Asp	p.A70D	ENST00000374189		70	gCc/gAc	0	1	1	UPI000012F17A	0	getma.org/pdb.php?prot=MK08_HUMAN&from=26&to=321&var=A70D	ENST00000374189		ENSG00000107643	6881		93	2.415		HGNC	p.A70D		MAPK8		SNV							ENST00000374179	protein_coding	getma.org/?cm=var&var=hg19,10,49612981,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24055:SF162,hmmpanther:PTHR24055,PROSITE_patterns:PS01351,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/D		A	medium	390/5796		getma.org/?cm=msa&ty=f&p=MK08_HUMAN&rb=26&re=321&var=A70D	deleterious(0)	C9J762_HUMAN			YES	MAPK8,missense_variant,p.Ala70Asp,ENST00000374189,;MAPK8,missense_variant,p.Ala70Asp,ENST00000374182,NM_002750.3,NM_139049.2;MAPK8,missense_variant,p.Ala70Asp,ENST00000374179,NM_139046.2,NM_001278547.1;MAPK8,missense_variant,p.Ala70Asp,ENST00000374176,;MAPK8,missense_variant,p.Ala70Asp,ENST00000360332,;MAPK8,missense_variant,p.Ala70Asp,ENST00000395611,NM_001278548.1;MAPK8,missense_variant,p.Ala70Asp,ENST00000432379,;MAPK8,missense_variant,p.Ala70Asp,ENST00000426557,;MAPK8,missense_variant,p.Ala70Asp,ENST00000374174,;MAPK8,intron_variant,,ENST00000429041,;MAPK8,non_coding_transcript_exon_variant,,ENST00000476134,;							MODERATE	209/1284	A70D	MK08_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363304		CCDS7224.1			1	
BTLA	0	LGGM	GRCh37	3	112188618	112188618	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	137	6	.	.	ENST00000334529.5:c.581G>T	p.Arg194Met	p.R194M	ENST00000334529	NM_181780.3	194	aGg/aTg	0	1	1	UPI0000209F49	0	NA	ENST00000334529		ENSG00000186265	21087		143	1.905		HGNC	p.R194M		BTLA		SNV							ENST00000334529	protein_coding	getma.org/?cm=var&var=hg19,3,112188618,C,A&fts=all				R/M		A	medium	784/3213		getma.org/?cm=msa&ty=f&p=BTLA_HUMAN&rb=135&re=289&var=R194M	deleterious(0)				YES	BTLA,missense_variant,p.Arg194Met,ENST00000334529,NM_181780.3;BTLA,missense_variant,p.Arg146Met,ENST00000383680,NM_001085357.1;BTLA,non_coding_transcript_exon_variant,,ENST00000474965,;BTLA,non_coding_transcript_exon_variant,,ENST00000496584,;							MODERATE	581/870	R194M	BTLA_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000333919		CCDS33819.1			1	
C17orf47	0	LGGM	GRCh37	17	56620958	56620958	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	66	6	.	.	ENST00000321691.3:c.590C>A	p.Pro197Gln	p.P197Q	ENST00000321691	NM_001038704.2	197	cCa/cAa	0	1	1	UPI0000140BFA	0	NA	ENST00000321691		ENSG00000181013	26844		72	1.04		HGNC	p.P197Q		C17orf47		SNV							ENST00000321691	protein_coding	getma.org/?cm=var&var=hg19,17,56620958,G,T&fts=all		Pfam_domain:PF15548		P/Q		T	low	772/2123		getma.org/?cm=msa&ty=f&p=CQ047_HUMAN&rb=50&re=550&var=P197Q	deleterious(0.02)				YES	C17orf47,missense_variant,p.Pro197Gln,ENST00000321691,NM_001038704.2;SEPT4,upstream_gene_variant,,ENST00000457347,NM_001256782.1;SEPT4,upstream_gene_variant,,ENST00000412945,NM_001198713.1;RP11-112H10.4,splice_region_variant,,ENST00000578022,;RP11-112H10.4,splice_region_variant,,ENST00000580589,;RP11-112H10.4,non_coding_transcript_exon_variant,,ENST00000580769,;SEPT4,upstream_gene_variant,,ENST00000581921,;							MODERATE	590/1713	P197Q	CQ047_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000354874		CCDS32691.1			1	
CYCS	0	LGGM	GRCh37	7	25163690	25163690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	92	6	.	.	ENST00000305786.2:c.49C>A	p.Gln17Lys	p.Q17K	ENST00000305786	NM_018947.5	17	Cag/Aag	0	1	1	UPI000013EAA0	0	getma.org/pdb.php?prot=CYC_HUMAN&from=4&to=103&var=Q17K	ENST00000305786		ENSG00000172115	19986		98	4.135		HGNC	p.Q17K		CYCS		SNV			1				ENST00000413447	protein_coding	getma.org/?cm=var&var=hg19,7,25163690,G,T&fts=all		PROSITE_profiles:PS51007,hmmpanther:PTHR11961,Gene3D:1.10.760.10,Pfam_domain:PF00034,Superfamily_domains:SSF46626,Prints_domain:PR00604		Q/K		T	high	219/4098		getma.org/?cm=msa&ty=f&p=CYC_HUMAN&rb=4&re=103&var=Q17K	deleterious(0.01)	Q6LER6_HUMAN,G4XXL9_HUMAN,C9JFR7_HUMAN			YES	CYCS,missense_variant,p.Gln17Lys,ENST00000305786,NM_018947.5;CYCS,missense_variant,p.Gln17Lys,ENST00000409409,;CYCS,missense_variant,p.Gln17Lys,ENST00000409764,;CYCS,missense_variant,p.Gln17Lys,ENST00000413447,;							MODERATE	49/318	Q17K	CYC_HUMAN			Transcript		benign(0.139)	.	ENSP00000307786		CCDS5393.1			1	
AKR1C2	0	LGGM	GRCh37	10	5045951	5045951	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	95	6	.	.	ENST00000380753.4:c.77C>A	p.Pro26His	p.P26H	ENST00000380753	NM_205845.2	26	cCt/cAt	0	1	1	UPI0000111D9F	0	getma.org/pdb.php?prot=AK1C2_HUMAN&from=18&to=301&var=P26H	ENST00000380753		ENSG00000151632	385		101	0.69		HGNC	p.P26H		AKR1C2		SNV			1				ENST00000455190	protein_coding	getma.org/?cm=var&var=hg19,10,5045951,G,T&fts=all		Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732		P/H		T	neutral	265/3381		getma.org/?cm=msa&ty=f&p=AK1C2_HUMAN&rb=18&re=301&var=P26H	deleterious(0.01)	S4R3P0_HUMAN			YES	AKR1C2,missense_variant,p.Pro26His,ENST00000380753,NM_205845.2;AKR1C2,missense_variant,p.Pro26His,ENST00000407674,NM_001354.5;AKR1C2,missense_variant,p.Pro26His,ENST00000421196,;AKR1C2,missense_variant,p.Pro26His,ENST00000455190,NM_001135241.2;AKR1C2,missense_variant,p.Pro26His,ENST00000604507,;U8,upstream_gene_variant,,ENST00000459141,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000604184,;AKR1C2,downstream_gene_variant,,ENST00000604428,;AKR1C2,downstream_gene_variant,,ENST00000604711,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000460124,;							MODERATE	77/972	P26H	AK1C2_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000370129		CCDS7062.1			1	
CTDSPL2	0	LGGM	GRCh37	15	44806796	44806796	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	6	.	.	ENST00000260327.4:c.970G>A	p.Val324Ile	p.V324I	ENST00000260327	NM_016396.2	324	Gtt/Att	0	1	1	UPI000004A0B3	0	getma.org/pdb.php?prot=CTSL2_HUMAN&from=288&to=450&var=V324I	ENST00000260327		ENSG00000137770	26936		37	1.805		HGNC	p.V324I		CTDSPL2		SNV							ENST00000558966	protein_coding	getma.org/?cm=var&var=hg19,15,44806796,G,A&fts=all		PROSITE_profiles:PS50969,hmmpanther:PTHR12210,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR02251,Pfam_domain:PF03031,SMART_domains:SM00577,Superfamily_domains:SSF56784		V/I		A	low	1533/6828		getma.org/?cm=msa&ty=f&p=CTSL2_HUMAN&rb=288&re=450&var=V324I	tolerated(0.06)	H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN			YES	CTDSPL2,missense_variant,p.Val324Ile,ENST00000260327,NM_016396.2;CTDSPL2,missense_variant,p.Val252Ile,ENST00000396780,;CTDSPL2,missense_variant,p.Val252Ile,ENST00000558373,;CTDSPL2,missense_variant,p.Val324Ile,ENST00000558966,;CTD-2329K10.1,downstream_gene_variant,,ENST00000561324,;CTDSPL2,upstream_gene_variant,,ENST00000559738,;CTDSPL2,splice_region_variant,,ENST00000560620,;							MODERATE	970/1401	V324I	CTSL2_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000260327		CCDS10110.1			1	
SACS	0	LGGM	GRCh37	13	23911375	23911375	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	6	.	.	ENST00000382298.3:c.6640C>A	p.Arg2214Ser	p.R2214S	ENST00000382298	NM_014363.5	2214	Cgc/Agc	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		50	0		HGNC	p.R2214S		SACS		SNV			1				ENST00000382292	protein_coding	getma.org/?cm=var&var=hg19,13,23911375,G,T&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		R/S		T	neutral	6914/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=2082&re=2281&var=R2214S						SACS,missense_variant,p.Arg2214Ser,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Arg2214Ser,ENST00000382292,;SACS,missense_variant,p.Arg1464Ser,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							MODERATE	6640/13740	R2214S	SACS_HUMAN			Transcript		benign(0)	.	ENSP00000371729		CCDS9300.2			1	
NEFH	0	LGGM	GRCh37	22	29885828	29885828	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	121	6	.	.	ENST00000310624.6:c.2199C>A	p.Pro733=	p.P733=	ENST00000310624	NM_021076.3	733	ccC/ccA	0	1	1	UPI00001AEF71	0		ENST00000310624		ENSG00000100285	7737		127			HGNC	p.P733P		NEFH		SNV			1				ENST00000310624	protein_coding			hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214		P		A		2232/3783							YES	NEFH,synonymous_variant,p.=,ENST00000310624,NM_021076.3;							LOW	2199/3063		NFH_HUMAN			Transcript			.	ENSP00000311997		CCDS13858.1			1	
PRSS55	0	LGGM	GRCh37	8	10396219	10396219	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	6	.	.	ENST00000328655.3:c.975G>T	p.Ser325=	p.S325=	ENST00000328655	NM_198464.3	325	tcG/tcT	0	1	1	UPI0000160C84	0		ENST00000328655		ENSG00000184647	30824		76			HGNC	p.S325S		PRSS55		SNV							ENST00000328655	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24265:SF35,hmmpanther:PTHR24265		S		T		1015/1124							YES	PRSS55,synonymous_variant,p.=,ENST00000328655,NM_198464.3;PRSS55,intron_variant,,ENST00000522210,NM_001197020.1;PRSS51,intron_variant,,ENST00000523024,;PRSS55,intron_variant,,ENST00000518641,;							LOW	975/1059		PRS55_HUMAN			Transcript			.	ENSP00000333003		CCDS5976.1			1	
NBR1	0	LGGM	GRCh37	17	41342782	41342782	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	114	6	.	.	ENST00000422280.1:c.852G>T	p.Leu284=	p.L284=	ENST00000422280	NM_031858.2	284	ctG/ctT	0	1		UPI0000161BF3	0		ENST00000341165		ENSG00000188554	6746		120			HGNC	p.L284L		NBR1		SNV							ENST00000590996	protein_coding			hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1		L		T		992/4656				Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN				NBR1,synonymous_variant,p.=,ENST00000422280,NM_031858.2;NBR1,synonymous_variant,p.=,ENST00000341165,NM_031862.2;NBR1,synonymous_variant,p.=,ENST00000389312,;NBR1,synonymous_variant,p.=,ENST00000590996,NM_005899.3;NBR1,synonymous_variant,p.=,ENST00000589872,;NBR1,synonymous_variant,p.=,ENST00000542611,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;							LOW	852/2901		NBR1_HUMAN			Transcript			.	ENSP00000343479		CCDS45694.1			1	
IWS1	0	LGGM	GRCh37	2	128262665	128262665	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	95	6	.	.	ENST00000295321.4:c.814C>A	p.Arg272=	p.R272=	ENST00000295321	NM_017969.2	272	Cga/Aga	0	1	1	UPI000006EA82	0		ENST00000295321		ENSG00000163166	25467		101			HGNC	p.R272R		IWS1		SNV							ENST00000295321	protein_coding			hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908		R		T		1074/2958							YES	IWS1,synonymous_variant,p.=,ENST00000295321,NM_017969.2;IWS1,synonymous_variant,p.=,ENST00000455721,;IWS1,synonymous_variant,p.=,ENST00000409725,;AC010976.2,intron_variant,,ENST00000599001,;IWS1,non_coding_transcript_exon_variant,,ENST00000495369,;IWS1,downstream_gene_variant,,ENST00000486662,;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,;							LOW	814/2460		IWS1_HUMAN			Transcript			.	ENSP00000295321		CCDS2146.1			1	
BTBD10	0	LGGM	GRCh37	11	13427328	13427328	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	74	6	.	.	ENST00000278174.5:c.884C>A	p.Pro295His	p.P295H	ENST00000278174	NM_032320.5	295	cCt/cAt	0	1	1	UPI00000622BE	0	NA	ENST00000278174		ENSG00000148925	21445		80	2.165		HGNC	p.P303H		BTBD10		SNV							ENST00000530907	protein_coding	getma.org/?cm=var&var=hg19,11,13427328,G,T&fts=all		hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF4		P/H		T	medium	1130/2504		getma.org/?cm=msa&ty=f&p=BTBDA_HUMAN&rb=290&re=473&var=P295H	deleterious(0)	Q7L2U6_HUMAN,Q6P5W1_HUMAN,E9PPD8_HUMAN,E9PKM7_HUMAN,D3DQW7_HUMAN,B7Z503_HUMAN			YES	BTBD10,missense_variant,p.Pro295His,ENST00000278174,NM_032320.5;BTBD10,missense_variant,p.Pro303His,ENST00000530907,;BTBD10,missense_variant,p.Pro247His,ENST00000528120,;BTBD10,3_prime_UTR_variant,,ENST00000527102,;BTBD10,3_prime_UTR_variant,,ENST00000525108,;BTBD10,non_coding_transcript_exon_variant,,ENST00000525864,;BTBD10,non_coding_transcript_exon_variant,,ENST00000525661,;							MODERATE	884/1428	P295H	BTBDA_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000278174		CCDS7811.1			1	
MTPAP	0	LGGM	GRCh37	10	30602562	30602562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	125	6	.	.	ENST00000263063.4:c.1725G>T	p.Lys575Asn	p.K575N	ENST00000263063	NM_018109.3	575	aaG/aaT	0	1	1	UPI0000070081	0	NA	ENST00000263063		ENSG00000107951	25532		131	2.075		HGNC	p.K705N		MTPAP		SNV			1				ENST00000358107	protein_coding	getma.org/?cm=var&var=hg19,10,30602562,C,A&fts=all		hmmpanther:PTHR12271:SF33,hmmpanther:PTHR12271		K/N		A	medium	1769/5601		getma.org/?cm=msa&ty=f&p=PAPD1_HUMAN&rb=485&re=582&var=K575N	deleterious_low_confidence(0.03)	Q5T852_HUMAN			YES	MTPAP,missense_variant,p.Lys705Asn,ENST00000358107,;MTPAP,missense_variant,p.Lys575Asn,ENST00000263063,NM_018109.3;MTPAP,non_coding_transcript_exon_variant,,ENST00000488290,;							MODERATE	1725/1749	K575N	PAPD1_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000263063		CCDS7165.1			1	
CPSF7	0	LGGM	GRCh37	11	61187504	61187504	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	6	.	.	ENST00000340437.4:c.569G>T	p.Gly190Val	p.G190V	ENST00000340437	NM_024811.3	190	gGg/gTg	0	1		UPI0000073C8F	0	getma.org/pdb.php?prot=CPSF7_HUMAN&from=84&to=156&var=G147V	ENST00000394888		ENSG00000149532	30098		69	2.92		HGNC	p.G147V	COSM1638898	CPSF7		SNV						1	ENST00000539952	protein_coding	getma.org/?cm=var&var=hg19,11,61187504,C,A&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF2,SMART_domains:SM00360,Superfamily_domains:SSF54928		G/V		A	medium	613/3650		getma.org/?cm=msa&ty=f&p=CPSF7_HUMAN&rb=84&re=156&var=G147V	deleterious(0.05)	C9JM38_HUMAN,C9J323_HUMAN,C9J286_HUMAN				CPSF7,missense_variant,p.Gly190Val,ENST00000340437,NM_024811.3;CPSF7,missense_variant,p.Gly147Val,ENST00000394888,NM_001136040.2;CPSF7,missense_variant,p.Gly147Val,ENST00000439958,NM_001142565.1;CPSF7,missense_variant,p.Gly147Val,ENST00000448745,;CPSF7,missense_variant,p.Gly147Val,ENST00000477890,;CPSF7,missense_variant,p.Gly147Val,ENST00000539952,;CPSF7,missense_variant,p.Gly147Val,ENST00000413232,;CPSF7,missense_variant,p.Gly147Val,ENST00000544585,;CPSF7,3_prime_UTR_variant,,ENST00000541963,;CPSF7,downstream_gene_variant,,ENST00000450000,;CPSF7,downstream_gene_variant,,ENST00000413184,;CPSF7,downstream_gene_variant,,ENST00000449811,;CPSF7,downstream_gene_variant,,ENST00000545934,;CPSF7,downstream_gene_variant,,ENST00000463244,;CPSF7,3_prime_UTR_variant,,ENST00000535222,;CPSF7,3_prime_UTR_variant,,ENST00000537162,;CPSF7,3_prime_UTR_variant,,ENST00000544990,;CPSF7,3_prime_UTR_variant,,ENST00000536548,;CPSF7,3_prime_UTR_variant,,ENST00000543545,;CPSF7,non_coding_transcript_exon_variant,,ENST00000544669,;CPSF7,intron_variant,,ENST00000537641,;CPSF7,downstream_gene_variant,,ENST00000474684,;CPSF7,downstream_gene_variant,,ENST00000536145,;CPSF7,downstream_gene_variant,,ENST00000489728,;					1		MODERATE	440/1416	G147V	CPSF7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000378352		CCDS44619.1			1	
SULT1C2	0	LGGM	GRCh37	2	108917375	108917375	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	113	6	.	.	ENST00000326853.5:c.392G>T	p.Trp131Leu	p.W131L	ENST00000326853	NM_176825.2	131	tGg/tTg	0	1		UPI000013543F	0	getma.org/pdb.php?prot=ST1C2_HUMAN&from=39&to=289&var=W120L	ENST00000251481		ENSG00000198203	11456		119	0.675		HGNC	p.W131L	rs762710808	SULT1C2		SNV							ENST00000326853	protein_coding	getma.org/?cm=var&var=hg19,2,108917375,G,T&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR11783:SF57,hmmpanther:PTHR11783		W/L		T	neutral	812/2795		getma.org/?cm=msa&ty=f&p=ST1C2_HUMAN&rb=39&re=289&var=W120L	tolerated(0.23)					SULT1C2,missense_variant,p.Trp131Leu,ENST00000326853,NM_176825.2;SULT1C2,missense_variant,p.Trp120Leu,ENST00000251481,NM_001056.3;SULT1C2,missense_variant,p.Trp134Leu,ENST00000437390,;SULT1C2,missense_variant,p.Trp117Leu,ENST00000409067,;SULT1C2,synonymous_variant,p.=,ENST00000438339,;SULT1C2,intron_variant,,ENST00000409880,;SULT1C2,non_coding_transcript_exon_variant,,ENST00000495441,;SULT1C2,intron_variant,,ENST00000442801,;	0.000116						MODERATE	359/891	W120L	ST1C2_HUMAN			Transcript		possibly_damaging(0.457)	.	ENSP00000251481	8.24E-06	CCDS2075.1			1	
CD1B	0	LGGM	GRCh37	1	158299342	158299342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	6	.	.	ENST00000368168.3:c.704G>T	p.Trp235Leu	p.W235L	ENST00000368168	NM_001764.2	235	tGg/tTg	0	1	1	UPI0000127333	0	getma.org/pdb.php?prot=CD1B_HUMAN&from=212&to=292&var=W235L	ENST00000368168		ENSG00000158485	1635		69	1.995		HGNC	p.W235L	rs758384120	CD1B		SNV							ENST00000368168	protein_coding	getma.org/?cm=var&var=hg19,1,158299342,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF130,SMART_domains:SM00407,Superfamily_domains:SSF48726		W/L		A	medium	812/1395	1.50E-05	getma.org/?cm=msa&ty=f&p=CD1B_HUMAN&rb=212&re=292&var=W235L	deleterious(0.02)	Q9UN97_HUMAN,B4E0D3_HUMAN			YES	CD1B,missense_variant,p.Trp235Leu,ENST00000368168,NM_001764.2;CD1B,missense_variant,p.Trp203Leu,ENST00000451207,;							MODERATE	704/1002	W235L	CD1B_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000357150	8.24E-06	CCDS1176.1			1	
REST	0	LGGM	GRCh37	4	57797232	57797232	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	87	6	.	.	ENST00000309042.7:c.2208C>A	p.Pro736=	p.P736=	ENST00000309042	NM_005612.4	736	ccC/ccA	0	1	1	UPI000013FBF6	0		ENST00000309042		ENSG00000084093	9966		93			HGNC	p.P736P		REST		SNV							ENST00000309042	protein_coding					P		A		2522/7300							YES	REST,synonymous_variant,p.=,ENST00000309042,NM_005612.4,NM_001193508.1;REST,downstream_gene_variant,,ENST00000514063,;							LOW	2208/3294		REST_HUMAN			Transcript			.	ENSP00000311816		CCDS3509.1			1	
YY1AP1	0	LGGM	GRCh37	1	155629459	155629459	+	splice_donor_variant,non_coding_transcript_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	105	6	.	.	ENST00000500626.2:n.577+1G>T		p.X193_splice	ENST00000500626				0	1		UPI0000141A85	0	NA	ENST00000295566		ENSG00000163374	30935		111	0		HGNC	p.G886X		YY1AP1		SNV							ENST00000368339	protein_coding	getma.org/?cm=var&var=hg19,1,155629459,C,A&fts=all		hmmpanther:PTHR16088,hmmpanther:PTHR16088:SF9		G/*		A	NA	2404/2626		NA		A3KFK2_HUMAN,A3KFK1_HUMAN				YY1AP1,stop_gained,p.Gly866Ter,ENST00000368340,NM_001198904.1;YY1AP1,stop_gained,p.Gly886Ter,ENST00000368339,NM_001198903.1;YY1AP1,stop_gained,p.Gly737Ter,ENST00000361831,NM_018253.3;YY1AP1,stop_gained,p.Gly717Ter,ENST00000407221,;YY1AP1,stop_gained,p.Gly737Ter,ENST00000359205,NM_001198900.1;YY1AP1,stop_gained,p.Gly717Ter,ENST00000311573,;YY1AP1,stop_gained,p.Gly748Ter,ENST00000355499,;YY1AP1,stop_gained,p.Gly728Ter,ENST00000404643,NM_139119.2,NM_001198905.1;YY1AP1,stop_gained,p.Gly794Ter,ENST00000295566,NM_139118.2,NM_001198906.1;YY1AP1,stop_gained,p.Gly748Ter,ENST00000368330,NM_139121.2,NM_001198901.1;YY1AP1,stop_gained,p.Gly748Ter,ENST00000347088,NM_001198902.1;YY1AP1,stop_gained,p.Gly594Ter,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,splice_donor_variant,,ENST00000500626,;MSTO2P,intron_variant,,ENST00000538914,;							HIGH	2380/2391	G794*	YYAP1_HUMAN			Transcript			.	ENSP00000295566		CCDS1115.1			1	
PEX11A	0	LGGM	GRCh37	15	90226796	90226796	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	114	6	.	.	ENST00000300056.3:c.556C>A	p.Arg186=	p.R186=	ENST00000300056	NM_001271572.1	186	Cga/Aga	0	1	1	UPI0000074027	0		ENST00000300056		ENSG00000166821	8852		120			HGNC	p.R186R		PEX11A		SNV							ENST00000300056	protein_coding			Pfam_domain:PF05648,hmmpanther:PTHR12652,hmmpanther:PTHR12652:SF22,Low_complexity_(Seg):seg		R		T		706/2740				B4DMF6_HUMAN,B2R8C6_HUMAN			YES	PEX11A,synonymous_variant,p.=,ENST00000300056,NM_001271572.1,NM_003847.2,NM_001271573.1;PEX11A,synonymous_variant,p.=,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,;							LOW	556/744		PX11A_HUMAN			Transcript			.	ENSP00000300056		CCDS10354.1			1	
TRDMT1	0	LGGM	GRCh37	10	17204168	17204168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	134	6	.	.	ENST00000377799.3:c.320C>A	p.Pro107Gln	p.P107Q	ENST00000377799	NM_004412.5	107	cCa/cAa	0	1	1	UPI0000129698	0	getma.org/pdb.php?prot=TRDMT_HUMAN&from=4&to=391&var=P107Q	ENST00000377799		ENSG00000107614	2977		140	1.885		HGNC	p.P48Q		TRDMT1		SNV							ENST00000457442	protein_coding	getma.org/?cm=var&var=hg19,10,17204168,G,T&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF00145,PROSITE_profiles:PS51679,hmmpanther:PTHR10629,Superfamily_domains:SSF53335,TIGRFAM_domain:TIGR00675		P/Q		T	low	368/3527		getma.org/?cm=msa&ty=f&p=TRDMT_HUMAN&rb=4&re=391&var=P107Q	deleterious(0.03)	Q6ICS7_HUMAN			YES	TRDMT1,missense_variant,p.Pro107Gln,ENST00000377799,NM_004412.5;TRDMT1,missense_variant,p.Pro48Gln,ENST00000457442,;TRDMT1,intron_variant,,ENST00000488990,;TRDMT1,intron_variant,,ENST00000412821,;TRDMT1,intron_variant,,ENST00000351358,;TRDMT1,intron_variant,,ENST00000358282,;TRDMT1,intron_variant,,ENST00000377766,;TRDMT1,intron_variant,,ENST00000313936,;TRDMT1,intron_variant,,ENST00000525762,;TRDMT1,intron_variant,,ENST00000436968,;TRDMT1,non_coding_transcript_exon_variant,,ENST00000452380,;TRDMT1,3_prime_UTR_variant,,ENST00000354631,;TRDMT1,3_prime_UTR_variant,,ENST00000495022,;TRDMT1,intron_variant,,ENST00000424636,;							MODERATE	320/1176	P107Q	TRDMT_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000367030		CCDS7114.1			1	
FBN2	0	LGGM	GRCh37	5	127638698	127638698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	126	6	.	.	ENST00000508053.1:c.5884G>T	p.Gly1962Trp	p.G1962W	ENST00000508053		1962	Ggg/Tgg	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=1934&to=1971&var=G1962W	ENST00000262464		ENSG00000138829	3604		132	4.025		HGNC	p.G1962W		FBN2		SNV			1				ENST00000508053	protein_coding	getma.org/?cm=var&var=hg19,5,127638698,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		G/W		A	high	6323/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=1934&re=1971&var=G1962W	deleterious(0)					FBN2,missense_variant,p.Gly1962Trp,ENST00000508053,;FBN2,missense_variant,p.Gly1962Trp,ENST00000262464,NM_001999.3;							MODERATE	5884/8739	G1962W	FBN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262464		CCDS34222.1			1	
NMD3	0	LGGM	GRCh37	3	160942813	160942813	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	131	6	.	.	ENST00000460469.1:c.140C>A	p.Pro47Gln	p.P47Q	ENST00000460469		47	cCg/cAg	0	1		UPI0000035FBE	0	NA	ENST00000351193		ENSG00000169251	24250		137	1.88		HGNC	p.P47Q		NMD3		SNV							ENST00000460469	protein_coding	getma.org/?cm=var&var=hg19,3,160942813,C,A&fts=all		hmmpanther:PTHR12746:SF2,hmmpanther:PTHR12746,Pfam_domain:PF04981		P/Q		A	low	280/3049		getma.org/?cm=msa&ty=f&p=NMD3_HUMAN&rb=17&re=246&var=P47Q	tolerated(0.26)	C9K0C2_HUMAN,C9J0B9_HUMAN,C9IZW9_HUMAN,C9IY70_HUMAN,B4DKU1_HUMAN				NMD3,missense_variant,p.Pro47Gln,ENST00000460469,;NMD3,missense_variant,p.Pro47Gln,ENST00000351193,NM_015938.3;NMD3,missense_variant,p.Pro47Gln,ENST00000472947,;NMD3,missense_variant,p.Pro47Gln,ENST00000463518,;NMD3,missense_variant,p.Pro47Gln,ENST00000493066,;NMD3,missense_variant,p.Pro47Gln,ENST00000476237,;NMD3,missense_variant,p.Pro47Gln,ENST00000468606,;NMD3,missense_variant,p.Pro47Gln,ENST00000460503,;NMD3,splice_region_variant,,ENST00000478160,;NMD3,non_coding_transcript_exon_variant,,ENST00000473909,;RP11-479I16.2,upstream_gene_variant,,ENST00000603703,;							MODERATE	140/1512	P47Q	NMD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000307525		CCDS3194.1			1	
PHLDB2	0	LGGM	GRCh37	3	111603365	111603365	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	121	6	.	.	ENST00000431670.2:c.441C>A	p.Pro147=	p.P147=	ENST00000431670	NM_001134438.1	147	ccC/ccA	0	1		UPI0000457152	0		ENST00000393925		ENSG00000144824	29573		127			HGNC	p.P147P		PHLDB2		SNV							ENST00000498699	protein_coding			hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF17		P		A		538/5543				Q8NEI7_HUMAN,Q659D2_HUMAN				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,;							LOW	441/3762		PHLB2_HUMAN			Transcript			.	ENSP00000377502		CCDS46886.1			1	
SIK1	0	LGGM	GRCh37	21	44841194	44841194	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	6	.	.	ENST00000270162.6:c.553G>T	p.Gly185Trp	p.G185W	ENST00000270162	NM_173354.3	185	Ggg/Tgg	0	1	1	UPI0000206F2B	0	getma.org/pdb.php?prot=SIK1_HUMAN&from=27&to=278&var=G185W	ENST00000270162		ENSG00000142178	11142		26	4.21		HGNC	p.G185W		SIK1		SNV			1				ENST00000270162	protein_coding	getma.org/?cm=var&var=hg19,21,44841194,C,A&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF037014,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF0,PROSITE_profiles:PS50011		G/W		A	high	686/4712		getma.org/?cm=msa&ty=f&p=SIK1_HUMAN&rb=27&re=278&var=G185W	deleterious(0)				YES	SIK1,missense_variant,p.Gly185Trp,ENST00000270162,NM_173354.3;SIK1,non_coding_transcript_exon_variant,,ENST00000478426,;							MODERATE	553/2352	G185W	SIK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000270162		CCDS33575.1			1	
WDFY3	0	LGGM	GRCh37	4	85708790	85708790	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	6	.	.	ENST00000295888.4:c.3746T>G	p.Ile1249Ser	p.I1249S	ENST00000295888	NM_014991.4	1249	aTt/aGt	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		13	2.435		HGNC	p.I1249S		WDFY3		SNV							ENST00000322366	protein_coding	getma.org/?cm=var&var=hg19,4,85708790,A,C&fts=all		Superfamily_domains:SSF49899,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		I/S		C	medium	4154/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=1201&re=1400&var=I1249S	deleterious(0)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Ile1249Ser,ENST00000322366,;WDFY3,missense_variant,p.Ile1249Ser,ENST00000295888,NM_014991.4;							MODERATE	3746/10581	I1249S	WDFY3_HUMAN			Transcript		possibly_damaging(0.466)	.	ENSP00000295888		CCDS3609.1			1	
PFKM	0	LGGM	GRCh37	12	48501229	48501229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	125	6	.	.	ENST00000340802.6:c.73C>A	p.Gln25Lys	p.Q25K	ENST00000340802	NM_001166686.1	25	Cag/Aag	0	1	1	UPI0000D621DC	0	NA	ENST00000340802		ENSG00000152556	8877		131	0		HGNC	p.Q25K		PFKM		SNV			1				ENST00000547581	protein_coding	getma.org/?cm=var&var=hg19,12,48501229,C,A&fts=all		PIRSF_domain:PIRSF000533		Q/K		A	neutral	297/3176		getma.org/?cm=msa&ty=f&p=F8VUB8_HUMAN&rb=1&re=141&var=Q25K	deleterious_low_confidence(0.05)	Q7KYX9_HUMAN,P78457_HUMAN,F8W1J8_HUMAN,F8VZQ1_HUMAN,F8VYK8_HUMAN,F8VW30_HUMAN,F8VUB8_HUMAN,F8VSL1_HUMAN,F8VNX2_HUMAN			YES	PFKM,missense_variant,p.Gln25Lys,ENST00000340802,NM_001166686.1;PFKM,missense_variant,p.Gln25Lys,ENST00000552792,;PFKM,missense_variant,p.Gln25Lys,ENST00000546755,;PFKM,missense_variant,p.Gln25Lys,ENST00000548288,;PFKM,missense_variant,p.Gln25Lys,ENST00000549366,;PFKM,intron_variant,,ENST00000550345,;PFKM,intron_variant,,ENST00000549941,;PFKM,intron_variant,,ENST00000549003,;PFKM,intron_variant,,ENST00000550257,;PFKM,intron_variant,,ENST00000550924,;SENP1,upstream_gene_variant,,ENST00000339976,;SENP1,upstream_gene_variant,,ENST00000004980,;SENP1,upstream_gene_variant,,ENST00000448372,NM_001267595.1;SENP1,upstream_gene_variant,,ENST00000551330,;SENP1,upstream_gene_variant,,ENST00000549518,NM_001267594.1;SENP1,upstream_gene_variant,,ENST00000551798,;PFKM,missense_variant,p.Gln25Lys,ENST00000547581,;SENP1,upstream_gene_variant,,ENST00000552189,;SENP1,upstream_gene_variant,,ENST00000547181,;SENP1,upstream_gene_variant,,ENST00000549882,;							MODERATE	73/2556	Q25K	K6PF_HUMAN			Transcript		benign(0.092)	.	ENSP00000345771		CCDS53786.1			1	
UBXN7	0	LGGM	GRCh37	3	196089339	196089339	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	61	6	.	.	ENST00000296328.4:c.1054C>A	p.His352Asn	p.H352N	ENST00000296328	NM_015562.1	352	Cac/Aac	0	1	1	UPI00001C1DEF	0	NA	ENST00000296328		ENSG00000163960	29119		67	0		HGNC	p.H204N		UBXN7		SNV							ENST00000535858	protein_coding	getma.org/?cm=var&var=hg19,3,196089339,G,T&fts=all		PIRSF_domain:PIRSF037991,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF6		H/N		T	neutral	1129/10568		getma.org/?cm=msa&ty=f&p=UBXN7_HUMAN&rb=234&re=406&var=H352N	tolerated(0.23)	F5GYB1_HUMAN,C9JD50_HUMAN,C9JAT7_HUMAN			YES	UBXN7,missense_variant,p.His352Asn,ENST00000296328,NM_015562.1;UBXN7,missense_variant,p.His204Asn,ENST00000535858,;UBXN7,missense_variant,p.His190Asn,ENST00000428095,;UBXN7,3_prime_UTR_variant,,ENST00000429160,;							MODERATE	1054/1470	H352N	UBXN7_HUMAN			Transcript		benign(0.036)	.	ENSP00000296328		CCDS43191.1			1	
IL17RD	0	LGGM	GRCh37	3	57132007	57132007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	73	6	.	.	ENST00000296318.7:c.1724G>T	p.Arg575Leu	p.R575L	ENST00000296318	NM_017563.3	575	cGg/cTg	0	1	1	UPI0000047CC3	0	NA	ENST00000296318		ENSG00000144730	17616		79	1.1		HGNC	p.R431L		IL17RD		SNV			1				ENST00000320057	protein_coding	getma.org/?cm=var&var=hg19,3,57132007,C,A&fts=all		hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8		R/L		A	low	1813/8720		getma.org/?cm=msa&ty=f&p=I17RD_HUMAN&rb=512&re=711&var=R575L	tolerated_low_confidence(0.15)	C9J6R0_HUMAN			YES	IL17RD,missense_variant,p.Arg575Leu,ENST00000296318,NM_017563.3;IL17RD,missense_variant,p.Arg431Leu,ENST00000320057,;IL17RD,missense_variant,p.Arg551Leu,ENST00000427856,;IL17RD,missense_variant,p.Arg431Leu,ENST00000463523,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;							MODERATE	1724/2220	R575L	I17RD_HUMAN			Transcript		benign(0.09)	.	ENSP00000296318		CCDS2880.2			1	
ATXN2	0	LGGM	GRCh37	12	111948288	111948288	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	106	6	.	.	ENST00000377617.3:c.2137G>T	p.Gly713Cys	p.G713C	ENST00000377617	NM_002973.3	713	Ggt/Tgt	0	1	1	UPI0000DBEEFC	0	NA	ENST00000377617		ENSG00000204842	10555		112	1.78		HGNC	p.G424C		ATXN2		SNV			1				ENST00000535949	protein_coding	getma.org/?cm=var&var=hg19,12,111948288,C,A&fts=all		hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11		G/C		A	low	2299/4702		getma.org/?cm=msa&ty=f&p=ATX2_HUMAN&rb=678&re=877&var=G713C		D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN			YES	ATXN2,missense_variant,p.Gly713Cys,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Gly713Cys,ENST00000550104,;ATXN2,missense_variant,p.Gly553Cys,ENST00000608853,;ATXN2,missense_variant,p.Gly448Cys,ENST00000389153,;ATXN2,missense_variant,p.Gly448Cys,ENST00000542287,;ATXN2,missense_variant,p.Gly424Cys,ENST00000535949,;ATXN2,intron_variant,,ENST00000492467,;ATXN2,intron_variant,,ENST00000550236,;ATXN2,downstream_gene_variant,,ENST00000481331,;ATXN2,missense_variant,p.Gly634Cys,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000546483,;ATXN2,downstream_gene_variant,,ENST00000392645,;							MODERATE	2137/3942	G713C	ATX2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000366843		CCDS31902.1			1	
ARHGAP11B	0	LGGM	GRCh37	15	30926475	30926475	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	6	.	.	ENST00000428041.2:c.400C>A	p.Pro134Thr	p.P134T	ENST00000428041	NM_001039841.1	134	Cca/Aca	0	1	1	UPI000041D252	0	getma.org/pdb.php?prot=RHGBB_HUMAN&from=66&to=213&var=P134T	ENST00000428041		ENSG00000187951	15782		39	0.42		HGNC	p.P134T		ARHGAP11B		SNV							ENST00000428041	protein_coding	getma.org/?cm=var&var=hg19,15,30926475,C,A&fts=all		Superfamily_domains:SSF48350,SMART_domains:SM00324,Pfam_domain:PF00620,Gene3D:1.10.555.10,hmmpanther:PTHR15670:SF3,hmmpanther:PTHR15670,PROSITE_profiles:PS50238		P/T		A	neutral	545/1017		getma.org/?cm=msa&ty=f&p=RHGBB_HUMAN&rb=66&re=213&var=P134T	tolerated(0.13)				YES	ARHGAP11B,missense_variant,p.Pro134Thr,ENST00000428041,NM_001039841.1;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000564902,;ARHGAP11B,non_coding_transcript_exon_variant,,ENST00000566362,;ARHGAP11B,missense_variant,p.Pro134Thr,ENST00000563110,;ARHGAP11B,upstream_gene_variant,,ENST00000568574,;							MODERATE	400/804	P134T	RHGBB_HUMAN			Transcript		benign(0.272)	.	ENSP00000392760		CCDS32185.1			1	
CSF3R	0	LGGM	GRCh37	1	36945059	36945059	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	18	6	.	.	ENST00000361632.4:c.39C>A	p.Ala13=	p.A13=	ENST00000361632		13	gcC/gcA	0	1		UPI000004CAC4	0		ENST00000361632		ENSG00000119535	2439		24			HGNC	p.A13A		CSF3R		SNV			1				ENST00000418048	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23036:SF75,hmmpanther:PTHR23036		A		T		101/2886				E9PK56_HUMAN				CSF3R,synonymous_variant,p.=,ENST00000373103,NM_156039.3;CSF3R,synonymous_variant,p.=,ENST00000373106,NM_000760.3;CSF3R,synonymous_variant,p.=,ENST00000373104,NM_172313.2;CSF3R,synonymous_variant,p.=,ENST00000361632,;CSF3R,synonymous_variant,p.=,ENST00000418048,;CSF3R,synonymous_variant,p.=,ENST00000338937,;CSF3R,synonymous_variant,p.=,ENST00000440588,;CSF3R,synonymous_variant,p.=,ENST00000331941,;CSF3R,synonymous_variant,p.=,ENST00000533491,;CSF3R,non_coding_transcript_exon_variant,,ENST00000526980,;CSF3R,non_coding_transcript_exon_variant,,ENST00000489551,;CSF3R,upstream_gene_variant,,ENST00000480825,;CSF3R,upstream_gene_variant,,ENST00000464365,;							LOW	39/2511		CSF3R_HUMAN			Transcript			.	ENSP00000355406		CCDS413.1			1	
ATP11B	0	LGGM	GRCh37	3	182538068	182538068	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	134	6	.	.	ENST00000323116.5:c.48G>T	p.Gln16His	p.Q16H	ENST00000323116	NM_014616.2	16	caG/caT	0	1	1	UPI000004124E	0	NA	ENST00000323116		ENSG00000058063	13553		140	-0.03		HGNC	p.Q16H		ATP11B		SNV							ENST00000323116	protein_coding	getma.org/?cm=var&var=hg19,3,182538068,G,T&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57		Q/H		T	neutral	308/7325		getma.org/?cm=msa&ty=f&p=AT11B_HUMAN&rb=1&re=92&var=Q16H	tolerated(0.19)	B4E3T1_HUMAN			YES	ATP11B,missense_variant,p.Gln16His,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Gln16His,ENST00000493826,;							MODERATE	48/3534	Q16H	AT11B_HUMAN			Transcript		benign(0.004)	.	ENSP00000321195		CCDS33896.1			1	
PSME3	0	LGGM	GRCh37	17	40986560	40986560	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	70	6	.	.	ENST00000293362.3:c.104C>A	p.Pro35Gln	p.P35Q	ENST00000293362	NM_176863.2	35	cCa/cAa	0	1		UPI0000001957	0	getma.org/pdb.php?prot=PSME3_HUMAN&from=7&to=70&var=P35Q	ENST00000590720		ENSG00000131467	9570		76	2.94		HGNC	p.P35Q		PSME3		SNV							ENST00000293362	protein_coding	getma.org/?cm=var&var=hg19,17,40986560,C,A&fts=all		Superfamily_domains:SSF47216,Pfam_domain:PF02251,Gene3D:1avoA00,hmmpanther:PTHR10660,hmmpanther:PTHR10660:SF4		P/Q		A	medium	337/998		getma.org/?cm=msa&ty=f&p=PSME3_HUMAN&rb=7&re=70&var=P35Q	deleterious(0)	K9J957_HUMAN,K7EPX6_HUMAN,K7EMD0_HUMAN,K7EKR3_HUMAN,B3KQ25_HUMAN				PSME3,missense_variant,p.Pro35Gln,ENST00000293362,NM_176863.2,NM_005789.3;PSME3,missense_variant,p.Pro46Gln,ENST00000441946,;PSME3,missense_variant,p.Pro35Gln,ENST00000590720,;PSME3,missense_variant,p.Pro35Gln,ENST00000589469,;PSME3,5_prime_UTR_variant,,ENST00000545225,;PSME3,3_prime_UTR_variant,,ENST00000541124,NM_001267045.1;PSME3,5_prime_UTR_variant,,ENST00000585805,;PSME3,5_prime_UTR_variant,,ENST00000591152,;PSME3,5_prime_UTR_variant,,ENST00000586114,;PSME3,intron_variant,,ENST00000592169,;BECN1,upstream_gene_variant,,ENST00000589636,;BECN1,upstream_gene_variant,,ENST00000591404,;PSME3,non_coding_transcript_exon_variant,,ENST00000592578,;PSME3,downstream_gene_variant,,ENST00000592458,;PSME3,missense_variant,p.Pro35Gln,ENST00000543428,;PSME3,3_prime_UTR_variant,,ENST00000586312,;PSME3,non_coding_transcript_exon_variant,,ENST00000593111,;PSME3,non_coding_transcript_exon_variant,,ENST00000591722,;							MODERATE	104/765	P35Q	PSME3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000466794		CCDS45689.1			1	
REV1	0	LGGM	GRCh37	2	100052378	100052378	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	94	6	.	.	ENST00000258428.3:c.1239C>A	p.Pro413=	p.P413=	ENST00000258428	NM_001037872.1	413	ccC/ccA	0	1	1	UPI0000073A14	0		ENST00000258428		ENSG00000135945	14060		100			HGNC	p.P51P		REV1		SNV							ENST00000450415	protein_coding			hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF13,PIRSF_domain:PIRSF036573,Superfamily_domains:SSF56672		P		T		1468/4751							YES	REV1,synonymous_variant,p.=,ENST00000258428,NM_001037872.1,NM_016316.2;REV1,synonymous_variant,p.=,ENST00000393445,;REV1,synonymous_variant,p.=,ENST00000450415,;REV1,non_coding_transcript_exon_variant,,ENST00000465835,;REV1,non_coding_transcript_exon_variant,,ENST00000486117,;REV1,non_coding_transcript_exon_variant,,ENST00000482887,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000491752,;REV1,downstream_gene_variant,,ENST00000473819,;							LOW	1239/3756		REV1_HUMAN			Transcript			.	ENSP00000258428		CCDS2045.1			1	
MTRF1L	0	LGGM	GRCh37	6	153316435	153316435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	6	.	.	ENST00000367233.5:c.359C>A	p.Pro120His	p.P120H	ENST00000367233	NM_019041.5	120	cCc/cAc	0	1	1	UPI0000071978	0	getma.org/pdb.php?prot=RF1ML_HUMAN&from=81&to=196&var=P120H	ENST00000367233		ENSG00000112031	21051		52	3.74		HGNC	p.P7H		MTRF1L		SNV							ENST00000414771	protein_coding	getma.org/?cm=var&var=hg19,6,153316435,G,T&fts=all		Superfamily_domains:SSF75620,SMART_domains:SM00937,Pfam_domain:PF03462,hmmpanther:PTHR11075:SF42,hmmpanther:PTHR11075		P/H		T	high	359/3676		getma.org/?cm=msa&ty=f&p=RF1ML_HUMAN&rb=81&re=196&var=P120H	deleterious(0)				YES	MTRF1L,missense_variant,p.Pro120His,ENST00000367233,NM_019041.5;MTRF1L,missense_variant,p.Pro120His,ENST00000367231,NM_001114184.1;MTRF1L,missense_variant,p.Pro120His,ENST00000367230,;MTRF1L,missense_variant,p.Pro7His,ENST00000414771,;MTRF1L,upstream_gene_variant,,ENST00000448966,;MTRF1L,splice_region_variant,,ENST00000464135,;MTRF1L,splice_region_variant,,ENST00000485512,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000463251,;MTRF1L,non_coding_transcript_exon_variant,,ENST00000485283,;MTRF1L,upstream_gene_variant,,ENST00000461949,;MTRF1L,downstream_gene_variant,,ENST00000482526,;							MODERATE	359/1143	P120H	RF1ML_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000356202		CCDS5243.1			1	
HERC6	0	LGGM	GRCh37	4	89352394	89352394	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	6	.	.	ENST00000264346.7:c.2187C>A	p.Thr729=	p.T729=	ENST00000264346	NM_017912.3	729	acC/acA	0	1	1	UPI00004C7A84	0		ENST00000264346		ENSG00000138642	26072		84			HGNC	p.T729T		HERC6		SNV							ENST00000264346	protein_coding			Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254:SF297,hmmpanther:PTHR11254,PROSITE_profiles:PS50237		T		A		2246/3779				B3KUG6_HUMAN			YES	HERC6,synonymous_variant,p.=,ENST00000380265,NM_001165136.1;HERC6,synonymous_variant,p.=,ENST00000264346,NM_017912.3;							LOW	2187/3069		HERC6_HUMAN			Transcript			.	ENSP00000264346		CCDS47098.1			1	
CD209	0	LGGM	GRCh37	19	7808106	7808106	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	101	6	.	.	ENST00000315599.7:c.1034G>T	p.Arg345Ile	p.R345I	ENST00000315599	NM_021155.3	345	aGa/aTa	0	1	1	UPI000003422C	0	getma.org/pdb.php?prot=CD209_HUMAN&from=273&to=379&var=R345I	ENST00000315599		ENSG00000090659	1641		107	0.94		HGNC	p.Q283H		CD209		SNV			1				ENST00000601256	protein_coding	getma.org/?cm=var&var=hg19,19,7808106,C,A&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436		R/I		A	low	1057/4280		getma.org/?cm=msa&ty=f&p=CD209_HUMAN&rb=273&re=379&var=R345I	deleterious(0.02)	B4E2A8_HUMAN			YES	CD209,missense_variant,p.Arg345Ile,ENST00000315599,NM_021155.3,NM_001144895.1,NM_001144897.1;CD209,missense_variant,p.Arg209Ile,ENST00000301357,NM_001144894.1;CD209,missense_variant,p.Arg275Ile,ENST00000593660,;CD209,missense_variant,p.Arg321Ile,ENST00000601951,;CD209,missense_variant,p.Arg184Ile,ENST00000394173,NM_001144899.1;CD209,missense_variant,p.Arg339Ile,ENST00000354397,;CD209,missense_variant,p.Arg321Ile,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Arg301Ile,ENST00000204801,;CD209,missense_variant,p.Gln283His,ENST00000601256,;CD209,missense_variant,p.Arg253Ile,ENST00000602261,;CD209,missense_variant,p.Arg209Ile,ENST00000593821,NM_001144893.1;CD209,missense_variant,p.Arg109Ile,ENST00000394161,;							MODERATE	1034/1215	R345I	CD209_HUMAN			Transcript		benign(0.049)	.	ENSP00000315477		CCDS12186.1			1	
APLF	0	LGGM	GRCh37	2	68753243	68753243	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	126	7	.	.	ENST00000303795.4:c.673C>A	p.Gln225Lys	p.Q225K	ENST00000303795	NM_173545.2	225	Cag/Aag	0	1	1	UPI0000074578	0	NA	ENST00000303795		ENSG00000169621	28724		133	1.95		HGNC	p.Q225K		APLF		SNV							ENST00000303795	protein_coding	getma.org/?cm=var&var=hg19,2,68753243,C,A&fts=all		hmmpanther:PTHR21315:SF1,hmmpanther:PTHR21315		Q/K		A	medium	844/3847		getma.org/?cm=msa&ty=f&p=APLF_HUMAN&rb=207&re=376&var=Q225K	tolerated(0.57)				YES	APLF,missense_variant,p.Gln225Lys,ENST00000303795,NM_173545.2;APLF,upstream_gene_variant,,ENST00000471727,;APLF,missense_variant,p.Gln225Lys,ENST00000445692,;APLF,3_prime_UTR_variant,,ENST00000529851,;AC130709.1,downstream_gene_variant,,ENST00000484779,;							MODERATE	673/1536	Q225K	APLF_HUMAN			Transcript		benign(0.007)	.	ENSP00000307004		CCDS1888.1			1	
ZC3H7A	0	LGGM	GRCh37	16	11873164	11873164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	148	7	.	.	ENST00000396516.2:c.164G>T	p.Arg55Leu	p.R55L	ENST00000396516		55	cGg/cTg	0	1		UPI000000DB79	0	getma.org/pdb.php?prot=Z3H7A_HUMAN&from=41&to=120&var=R55L	ENST00000355758		ENSG00000122299	30959		155	2.44		HGNC	p.R55L		ZC3H7A		SNV							ENST00000355758	protein_coding	getma.org/?cm=var&var=hg19,16,11873164,C,A&fts=all		hmmpanther:PTHR14928:SF13,hmmpanther:PTHR14928,Pfam_domain:PF13414,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		R/L		A	medium	342/3825		getma.org/?cm=msa&ty=f&p=Z3H7A_HUMAN&rb=41&re=120&var=R55L	deleterious(0)	I3L3S2_HUMAN,I3L3F9_HUMAN,I3L382_HUMAN,I3L1Y3_HUMAN				ZC3H7A,missense_variant,p.Arg55Leu,ENST00000396516,;ZC3H7A,missense_variant,p.Arg55Leu,ENST00000355758,NM_014153.3;ZC3H7A,missense_variant,p.Arg55Leu,ENST00000571198,;ZC3H7A,missense_variant,p.Arg55Leu,ENST00000572870,;ZC3H7A,missense_variant,p.Arg55Leu,ENST00000576018,;ZC3H7A,missense_variant,p.Arg55Leu,ENST00000572781,;ZC3H7A,missense_variant,p.Arg55Leu,ENST00000574995,;ZC3H7A,upstream_gene_variant,,ENST00000576009,;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000575170,;							MODERATE	164/2916	R55L	Z3H7A_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000347999		CCDS10550.1			1	
LAIR1	0	LGGM	GRCh37	19	54872705	54872705	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	64	7	.	.	ENST00000391742.2:c.182A>T	p.Glu61Val	p.E61V	ENST00000391742		61	gAg/gTg	0	1	1	UPI000011A058	0	getma.org/pdb.php?prot=LAIR1_HUMAN&from=28&to=120&var=E61V	ENST00000391742		ENSG00000167613	6477		71	1.81		HGNC	p.E54V		LAIR1		SNV							ENST00000313038	protein_coding	getma.org/?cm=var&var=hg19,19,54872705,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF12,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/V		A	low	335/1610		getma.org/?cm=msa&ty=f&p=LAIR1_HUMAN&rb=28&re=120&var=E61V	deleterious(0)				YES	LAIR1,missense_variant,p.Glu43Val,ENST00000391743,;LAIR1,missense_variant,p.Glu60Val,ENST00000434277,NM_002287.3;LAIR1,missense_variant,p.Glu61Val,ENST00000391742,;LAIR1,missense_variant,p.Glu54Val,ENST00000313038,;LAIR1,missense_variant,p.Glu61Val,ENST00000348231,NM_021706.2;LAIR1,missense_variant,p.Glu60Val,ENST00000474878,;LAIR1,missense_variant,p.Glu55Val,ENST00000438193,;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,missense_variant,p.Glu61Val,ENST00000418556,;LAIR1,missense_variant,p.Glu61Val,ENST00000391741,;LAIR1,3_prime_UTR_variant,,ENST00000440716,;LAIR1,3_prime_UTR_variant,,ENST00000423853,;LAIR1,3_prime_UTR_variant,,ENST00000436513,;LAIR1,3_prime_UTR_variant,,ENST00000427131,;LAIR1,3_prime_UTR_variant,,ENST00000420483,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,non_coding_transcript_exon_variant,,ENST00000498511,;LAIR1,upstream_gene_variant,,ENST00000475389,;LAIR1,upstream_gene_variant,,ENST00000460312,;							MODERATE	182/864	E61V	LAIR1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000375622		CCDS12891.1			1	
SCN2A	0	LGGM	GRCh37	2	166245605	166245605	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	136	7	.	.	ENST00000357398.3:c.5289C>A	p.Ser1763=	p.S1763=	ENST00000357398		1763	tcC/tcA	0	1		UPI00001279C9	0		ENST00000283256		ENSG00000136531	10588		143			HGNC	p.S1763S		SCN2A		SNV			1				ENST00000357398	protein_coding			Pfam_domain:PF00520,Prints_domain:PR00170,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		S		A		5445/8403				F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,synonymous_variant,p.=,ENST00000375437,NM_001040142.1;SCN2A,synonymous_variant,p.=,ENST00000357398,;SCN2A,synonymous_variant,p.=,ENST00000283256,NM_021007.2;SCN2A,synonymous_variant,p.=,ENST00000375427,NM_001040143.1;							LOW	5289/6018		SCN2A_HUMAN			Transcript			.	ENSP00000283256		CCDS33314.1			1	
ERCC3	0	LGGM	GRCh37	2	128016917	128016917	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	26	7	.	.	ENST00000285398.2:c.2172C>T	p.Ala724=	p.A724=	ENST00000285398	NM_000122.1	724	gcC/gcT	0	1	1	UPI000013900E	0		ENST00000285398		ENSG00000163161	3435		33			HGNC	p.A724A	rs778824043	ERCC3	6.06E-05	SNV			1				ENST00000285398	protein_coding			hmmpanther:PTHR11274:SF0,hmmpanther:PTHR11274,TIGRFAM_domain:TIGR00603		A		A		2267/2750	3.00E-05			G3V1S1_HUMAN			YES	ERCC3,synonymous_variant,p.=,ENST00000493187,;ERCC3,synonymous_variant,p.=,ENST00000285398,NM_000122.1;ERCC3,3_prime_UTR_variant,,ENST00000445889,;ERCC3,3_prime_UTR_variant,,ENST00000426778,;ERCC3,non_coding_transcript_exon_variant,,ENST00000491292,;	0.000116						LOW	2172/2349		ERCC3_HUMAN			Transcript			.	ENSP00000285398	3.29E-05	CCDS2144.1			1	
GALR1	0	LGGM	GRCh37	18	74962929	74962929	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	7	.	.	ENST00000299727.3:c.425G>A	p.Arg142His	p.R142H	ENST00000299727	NM_001480.3	142	cGc/cAc	0	1	1	UPI000013E5DE	0	getma.org/pdb.php?prot=GALR1_HUMAN&from=50&to=303&var=R142H	ENST00000299727		ENSG00000166573	4132		14	1.205		HGNC	p.R142H	rs756079511,COSM4073405	GALR1		SNV				0.000196		0,1	ENST00000299727	protein_coding	getma.org/?cm=var&var=hg19,18,74962929,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF31,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321		R/H		A	low	425/1050	1.52E-05	getma.org/?cm=msa&ty=f&p=GALR1_HUMAN&rb=50&re=303&var=R142H	tolerated(0.46)				YES	GALR1,missense_variant,p.Arg142His,ENST00000299727,NM_001480.3;GALR1,upstream_gene_variant,,ENST00000582943,;					0,1		MODERATE	425/1050	R142H	GALR1_HUMAN			Transcript		benign(0.192)	.	ENSP00000299727	2.47E-05	CCDS12012.1			1	
DMBT1	0	LGGM	GRCh37	10	124377766	124377766	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	103	7	.	.	ENST00000368909.3:c.4738G>T	p.Gly1580Ter	p.G1580*	ENST00000368909	NM_007329.2	1580	Gga/Tga	0	1		UPI000047021C	0	NA	ENST00000338354		ENSG00000187908	2926		110	0		HGNC	p.G952X		DMBT1		SNV			1				ENST00000330163	protein_coding	getma.org/?cm=var&var=hg19,10,124377766,G,T&fts=all		Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,PROSITE_profiles:PS50287		G/*		T	NA	4844/7686		NA		B6V682_HUMAN				DMBT1,stop_gained,p.Gly1580Ter,ENST00000338354,;DMBT1,stop_gained,p.Gly1580Ter,ENST00000368909,NM_007329.2;DMBT1,stop_gained,p.Gly1570Ter,ENST00000368955,NM_017579.2;DMBT1,stop_gained,p.Gly1570Ter,ENST00000344338,;DMBT1,stop_gained,p.Gly952Ter,ENST00000330163,;DMBT1,stop_gained,p.Gly952Ter,ENST00000368956,NM_004406.2;DMBT1,stop_gained,p.Gly431Ter,ENST00000359586,;							HIGH	4738/7242	G1580*	DMBT1_HUMAN			Transcript			.	ENSP00000342210					1	
ZNF502	0	LGGM	GRCh37	3	44763264	44763264	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	139	7	.	.	ENST00000296091.4:c.955G>T	p.Gly319Trp	p.G319W	ENST00000296091	NM_001134440.1	319	Ggg/Tgg	0	1	1	UPI0000072CFB	0	getma.org/pdb.php?prot=ZN502_HUMAN&from=309&to=334&var=G319W	ENST00000296091		ENSG00000196653	23718		146	3.07		HGNC	p.G319W		ZNF502		SNV							ENST00000449836	protein_coding	getma.org/?cm=var&var=hg19,3,44763264,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5,Superfamily_domains:SSF57667		G/W		T	medium	1211/3270		getma.org/?cm=msa&ty=f&p=ZN502_HUMAN&rb=289&re=354&var=G319W	deleterious(0.01)	C9JLT3_HUMAN			YES	ZNF502,missense_variant,p.Gly319Trp,ENST00000296091,NM_001134440.1,NM_033210.4,NM_001282880.1;ZNF502,missense_variant,p.Gly319Trp,ENST00000449836,NM_001134441.1,NM_001134442.1;ZNF502,missense_variant,p.Gly319Trp,ENST00000436624,;ZNF502,downstream_gene_variant,,ENST00000411443,;							MODERATE	955/1635	G319W	ZN502_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296091		CCDS2719.1			1	
MREG	0	LGGM	GRCh37	2	216810334	216810334	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	140	7	.	.	ENST00000263268.6:c.470C>A	p.Pro157Gln	p.P157Q	ENST00000263268	NM_018000.2	157	cCa/cAa	0	1	1	UPI000006D682	0	NA	ENST00000263268		ENSG00000118242	25478		147	1.735		HGNC	p.P157Q	COSM1719527	MREG		SNV						1	ENST00000423087	protein_coding	getma.org/?cm=var&var=hg19,2,216810334,G,T&fts=all				P/Q		T	low	766/1314		getma.org/?cm=msa&ty=f&p=MREG_HUMAN&rb=4&re=212&var=P157Q	deleterious(0.01)	C9JYV9_HUMAN,C9JFU1_HUMAN,C9JAG4_HUMAN			YES	MREG,missense_variant,p.Pro157Gln,ENST00000263268,NM_018000.2;MREG,missense_variant,p.Pro103Gln,ENST00000420348,;MREG,missense_variant,p.Pro103Gln,ENST00000439791,;MREG,missense_variant,p.Pro103Gln,ENST00000424992,;AC093382.1,upstream_gene_variant,,ENST00000413311,;					1		MODERATE	470/645	P157Q	MREG_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000263268		CCDS46513.1			1	
ALCAM	0	LGGM	GRCh37	3	105258876	105258876	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	99	7	.	.	ENST00000306107.5:c.788G>T	p.Gly263Val	p.G263V	ENST00000306107	NM_001627.3	263	gGg/gTg	0	1	1	UPI0000209ECA	0	NA	ENST00000306107		ENSG00000170017	400		106	2.98		HGNC	p.G263V		ALCAM		SNV							ENST00000306107	protein_coding	getma.org/?cm=var&var=hg19,3,105258876,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/V		T	medium	1288/4701		getma.org/?cm=msa&ty=f&p=CD166_HUMAN&rb=248&re=331&var=G263V	deleterious(0)	F5GXJ9_HUMAN			YES	ALCAM,missense_variant,p.Gly263Val,ENST00000306107,NM_001627.3;ALCAM,missense_variant,p.Gly263Val,ENST00000472644,NM_001243280.1;ALCAM,missense_variant,p.Gly212Val,ENST00000486979,;ALCAM,intron_variant,,ENST00000465413,;ALCAM,intron_variant,,ENST00000389927,;ALCAM,non_coding_transcript_exon_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000460954,;ALCAM,upstream_gene_variant,,ENST00000491388,;							MODERATE	788/1752	G263V	CD166_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000305988		CCDS33810.1			1	
SLC9B1	0	LGGM	GRCh37	4	103866373	103866373	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	123	7	.	.	ENST00000296422.7:c.630C>A	p.Pro210=	p.P210=	ENST00000296422	NM_139173.3	210	ccC/ccA	0	1	1	UPI000020B281	0		ENST00000296422		ENSG00000164037	24244		130			HGNC	p.P210P	COSM1426153	SLC9B1		SNV						1	ENST00000394789	protein_coding			hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF5,Pfam_domain:PF00999		P		T		772/1879				D6RGI9_HUMAN			YES	SLC9B1,synonymous_variant,p.=,ENST00000296422,NM_139173.3;SLC9B1,synonymous_variant,p.=,ENST00000394789,NM_001100874.2;SLC9B1,synonymous_variant,p.=,ENST00000514340,;SLC9B1,intron_variant,,ENST00000514972,;SLC9B1,intron_variant,,ENST00000503584,;SLC9B1,intron_variant,,ENST00000504216,;SLC9B1,intron_variant,,ENST00000510243,;					1		LOW	630/1548		SL9B1_HUMAN			Transcript			.	ENSP00000296422		CCDS34041.1			1	
LRP1B	0	LGGM	GRCh37	2	141242938	141242938	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	48	7	.	.	ENST00000389484.3:c.9399A>G	p.Arg3133=	p.R3133=	ENST00000389484	NM_018557.2	3133	agA/agG	0	1	1	UPI00001B045B	0		ENST00000389484		ENSG00000168702	6693		55			HGNC	p.R3133R		LRP1B		SNV							ENST00000389484	protein_coding			Gene3D:2.120.10.30,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825		R		C		10371/16535				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			YES	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;							LOW	9399/13800		LRP1B_HUMAN			Transcript			.	ENSP00000374135		CCDS2182.1			1	
HAUS3	0	LGGM	GRCh37	4	2240647	2240647	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	116	7	.	.	ENST00000243706.4:c.1033C>A	p.Gln345Lys	p.Q345K	ENST00000243706	NM_024511.5	345	Cag/Aag	0	1	1	UPI000020BA32	0	NA	ENST00000243706		ENSG00000214367	28719		123	2.075		HGNC	p.Q345K		HAUS3		SNV							ENST00000506763	protein_coding	getma.org/?cm=var&var=hg19,4,2240647,G,T&fts=all		hmmpanther:PTHR19378:SF0,hmmpanther:PTHR19378,Prints_domain:PR02089		Q/K		T	medium	1263/5620		getma.org/?cm=msa&ty=f&p=HAUS3_HUMAN&rb=201&re=400&var=Q345K	tolerated(0.06)	D6R993_HUMAN			YES	HAUS3,missense_variant,p.Gln345Lys,ENST00000243706,NM_024511.5;HAUS3,missense_variant,p.Gln345Lys,ENST00000506763,;HAUS3,missense_variant,p.Gln345Lys,ENST00000443786,;POLN,intron_variant,,ENST00000511885,;HAUS3,downstream_gene_variant,,ENST00000514395,;HAUS3,downstream_gene_variant,,ENST00000502440,;POLN,intron_variant,,ENST00000515357,;COX6B1P5,downstream_gene_variant,,ENST00000509843,;							MODERATE	1033/1812	Q345K	HAUS3_HUMAN			Transcript		benign(0.406)	.	ENSP00000243706		CCDS33941.1			1	
SPATS2L	0	LGGM	GRCh37	2	201334685	201334685	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	111	7	.	.	ENST00000358677.5:c.1006C>A	p.Arg336=	p.R336=	ENST00000358677	NM_015535.2	336	Cgg/Agg	0	1	1	UPI0000D48A8E	0		ENST00000358677		ENSG00000196141	24574		118			HGNC	p.R336R	rs779016486	SPATS2L		SNV							ENST00000358677	protein_coding			hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623,Pfam_domain:PF07139		R		A		1253/6156	1.93E-05			F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN			YES	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,downstream_gene_variant,,ENST00000409397,;SPATS2L,downstream_gene_variant,,ENST00000438761,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000460095,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000468832,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000462190,;							LOW	1006/1677		SPS2L_HUMAN			Transcript			.	ENSP00000351503	1.66E-05	CCDS46483.1			1	
SPAG5	0	LGGM	GRCh37	17	26911376	26911376	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	147	7	.	.	ENST00000321765.5:c.2284C>A	p.Gln762Lys	p.Q762K	ENST00000321765	NM_006461.3	762	Cag/Aag	0	1	1	UPI0000073414	0	NA	ENST00000321765		ENSG00000076382	13452		154	0.975		HGNC	p.Q762K		SPAG5		SNV							ENST00000321765	protein_coding	getma.org/?cm=var&var=hg19,17,26911376,G,T&fts=all		hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0		Q/K		T	low	2617/4040		getma.org/?cm=msa&ty=f&p=SPAG5_HUMAN&rb=318&re=1191&var=Q762K	tolerated(0.09)				YES	SPAG5,missense_variant,p.Gln762Lys,ENST00000321765,NM_006461.3;RP11-192H23.4,intron_variant,,ENST00000531839,;SPAG5,upstream_gene_variant,,ENST00000582076,;SPAG5,downstream_gene_variant,,ENST00000584206,;SPAG5,missense_variant,p.Gln46Lys,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,;							MODERATE	2284/3582	Q762K	SPAG5_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000323300		CCDS32594.1			1	
CBLN4	0	LGGM	GRCh37	20	54575877	54575877	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	87	7	.	.	ENST00000064571.2:c.318C>A	p.Phe106Leu	p.F106L	ENST00000064571	NM_080617.5	106	ttC/ttA	0	1	1	UPI0000046135	0	getma.org/pdb.php?prot=CBLN4_HUMAN&from=72&to=198&var=F106L	ENST00000064571		ENSG00000054803	16231		94	2.215		HGNC	p.F106L		CBLN4		SNV							ENST00000064571	protein_coding	getma.org/?cm=var&var=hg19,20,54575877,G,T&fts=all		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF3,hmmpanther:PTHR22923,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007		F/L		T	medium	1619/3024		getma.org/?cm=msa&ty=f&p=CBLN4_HUMAN&rb=72&re=198&var=F106L	deleterious(0)				YES	CBLN4,missense_variant,p.Phe106Leu,ENST00000064571,NM_080617.5;							MODERATE	318/606	F106L	CBLN4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000064571		CCDS13448.1			1	
PSG1	0	LGGM	GRCh37	19	43373144	43373144	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	143	7	.	.	ENST00000244296.2:c.752C>A	p.Pro251His	p.P251H	ENST00000244296	NM_006905.2	251	cCc/cAc	0	1		UPI000013279D	0	getma.org/pdb.php?prot=PSG1_HUMAN&from=241&to=328&var=P251H	ENST00000436291		ENSG00000231924	9514		150	3.545		HGNC	p.P251H		PSG1		SNV							ENST00000244296	protein_coding	getma.org/?cm=var&var=hg19,19,43373144,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955,Gene3D:2.60.40.10,SMART_domains:SM00409		P/H		T	high	869/2047		getma.org/?cm=msa&ty=f&p=PSG1_HUMAN&rb=241&re=328&var=P251H	tolerated(0.21)	Q9UMI0_HUMAN,M0QY44_HUMAN				PSG1,missense_variant,p.Pro251His,ENST00000244296,NM_006905.2;PSG1,missense_variant,p.Pro251His,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,missense_variant,p.Pro251His,ENST00000595356,;PSG1,missense_variant,p.Pro251His,ENST00000312439,;PSG1,missense_variant,p.Pro158His,ENST00000403380,;PSG1,missense_variant,p.Pro158His,ENST00000595124,;PSG1,intron_variant,,ENST00000597058,;PSG1,downstream_gene_variant,,ENST00000595930,;PSG1,non_coding_transcript_exon_variant,,ENST00000602039,;							MODERATE	752/1260	P251H	PSG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000413041		CCDS54275.1			1	
TTN	0	LGGM	GRCh37	2	179398488	179398488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	123	7	.	.	ENST00000589042.1:c.102854C>A	p.Pro34285Gln	p.P34285Q	ENST00000589042	NM_001267550.1	34285	cCa/cAa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=32617&to=32709&var=P32644Q	ENST00000591111		ENSG00000155657	12403		130	3.745		HGNC	p.P25345Q		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179398488,G,T&fts=all		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		P/Q		T	high	98156/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=32617&re=32709&var=P32644Q		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro34285Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro32644Gln,ENST00000591111,;TTN,missense_variant,p.Pro31717Gln,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro25412Gln,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro25345Gln,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro25220Gln,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,;							MODERATE	97931/103053	P32644Q	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
EIF2AK4	0	LGGM	GRCh37	15	40289221	40289221	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	137	7	.	.	ENST00000263791.5:c.2823G>T	p.Met941Ile	p.M941I	ENST00000263791	NM_001013703.2	941	atG/atT	0	1	1	UPI0000160791	0	getma.org/pdb.php?prot=E2AK4_HUMAN&from=764&to=1001&var=M941I	ENST00000263791		ENSG00000128829	19687		144	0.45		HGNC	p.M941I		EIF2AK4		SNV			1				ENST00000263791	protein_coding	getma.org/?cm=var&var=hg19,15,40289221,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000660,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/I		T	neutral	2866/5499		getma.org/?cm=msa&ty=f&p=E2AK4_HUMAN&rb=764&re=1001&var=M941I	deleterious(0.04)				YES	EIF2AK4,missense_variant,p.Met941Ile,ENST00000263791,NM_001013703.2;EIF2AK4,missense_variant,p.Met913Ile,ENST00000382727,;EIF2AK4,missense_variant,p.Met719Ile,ENST00000560855,;EIF2AK4,non_coding_transcript_exon_variant,,ENST00000558629,;							MODERATE	2823/4950	M941I	E2AK4_HUMAN			Transcript		benign(0.155)	.	ENSP00000263791		CCDS42016.1			1	
MPDZ	0	LGGM	GRCh37	9	13138060	13138060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	140	7	.	.	ENST00000541718.1:c.4096G>T	p.Gly1366Trp	p.G1366W	ENST00000541718	NM_001261407.1	1366	Ggg/Tgg	0	1		UPI0000211133	0	getma.org/pdb.php?prot=MPDZ_HUMAN&from=1350&to=1429&var=G1366W	ENST00000319217		ENSG00000107186	7208		147	4.275		HGNC	p.G1333W		MPDZ		SNV			1				ENST00000447879	protein_coding	getma.org/?cm=var&var=hg19,9,13138060,C,A&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156		G/W		A	high	4344/7722		getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=1350&re=1429&var=G1366W	deleterious(0)	B3KRN5_HUMAN,B3KQC9_HUMAN				MPDZ,missense_variant,p.Gly1366Trp,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Gly1366Trp,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Gly1366Trp,ENST00000381022,;MPDZ,missense_variant,p.Gly1366Trp,ENST00000381015,;MPDZ,missense_variant,p.Gly1380Trp,ENST00000546205,;MPDZ,missense_variant,p.Gly1333Trp,ENST00000447879,;MPDZ,missense_variant,p.Gly1333Trp,ENST00000536827,;MPDZ,missense_variant,p.Gly302Trp,ENST00000545857,;MPDZ,missense_variant,p.Gly225Trp,ENST00000538841,;MPDZ,missense_variant,p.Gly188Trp,ENST00000433359,;MPDZ,upstream_gene_variant,,ENST00000541093,;MPDZ,upstream_gene_variant,,ENST00000438511,;MPDZ,non_coding_transcript_exon_variant,,ENST00000540202,;MPDZ,missense_variant,p.Gly60Trp,ENST00000535169,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;							MODERATE	4096/6213	G1366W	MPDZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000320006					1	
IGKV1D-13	0	LGGM	GRCh37	2	90193210	90193210	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	127	7	.	.	ENST00000390275.2:c.137G>T	p.Arg46Leu	p.R46L	ENST00000390275		46	cGg/cTg	0	1	1	UPI0000115E40	0		ENST00000390275		ENSG00000211630	5747		134			HGNC	p.R46L		IGKV1D-13		SNV							ENST00000390275	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/L		T		317/531			deleterious(0.02)				YES	IGKV1D-13,missense_variant,p.Arg46Leu,ENST00000390275,;							MODERATE	137/351					Transcript		benign(0.243)	.	ENSP00000374810					1	
DNAH11	0	LGGM	GRCh37	7	21784141	21784141	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	154	7	.	.	ENST00000328843.6:c.8261G>T	p.Gly2754Val	p.G2754V	ENST00000328843		2754	gGa/gTa	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		161			HGNC	p.G2754V		DNAH11		SNV			1				ENST00000328843	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227,Superfamily_domains:SSF52540		G/V		T		8271/14167			deleterious(0.04)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Gly2754Val,ENST00000328843,;DNAH11,missense_variant,p.Gly2747Val,ENST00000409508,NM_001277115.1;DNAH11,intron_variant,,ENST00000605912,;							MODERATE	8240/13551					Transcript		probably_damaging(0.984)	.	ENSP00000475939		CCDS64602.1			1	
PPP1R17	0	LGGM	GRCh37	7	31735138	31735138	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	162	7	.	.	ENST00000342032.3:c.138G>T	p.Lys46Asn	p.K46N	ENST00000342032	NM_006658.4	46	aaG/aaT	0	1	1	UPI000006D182	0	NA	ENST00000342032		ENSG00000106341	16973		169	1.995		HGNC	p.K46N		PPP1R17		SNV							ENST00000342032	protein_coding	getma.org/?cm=var&var=hg19,7,31735138,G,T&fts=all		hmmpanther:PTHR15387,hmmpanther:PTHR15387:SF0		K/N		T	medium	766/2268		getma.org/?cm=msa&ty=f&p=PPR17_HUMAN&rb=1&re=155&var=K46N	tolerated_low_confidence(0.05)				YES	PPP1R17,missense_variant,p.Lys46Asn,ENST00000342032,NM_006658.4;PPP1R17,intron_variant,,ENST00000409146,NM_001145123.2;PPP1R17,upstream_gene_variant,,ENST00000498609,;							MODERATE	138/468	K46N	PPR17_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000340125		CCDS5436.1			1	
TRIM64B	0	LGGM	GRCh37	11	89604110	89604110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	65	7	.	.	ENST00000329862.6:c.1029G>T	p.Glu343Asp	p.E343D	ENST00000329862	NM_001164397.1	343	gaG/gaT	0	1	1	UPI0001662600	0	getma.org/pdb.php?prot=TR64B_HUMAN&from=337&to=449&var=E343D	ENST00000329862		ENSG00000189253	37147		72	2.815		HGNC	p.E343D		TRIM64B		SNV							ENST00000329862	protein_coding	getma.org/?cm=var&var=hg19,11,89604110,C,A&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF307,SMART_domains:SM00449,Superfamily_domains:SSF49899		E/D		A	medium	1029/2689		getma.org/?cm=msa&ty=f&p=TR64B_HUMAN&rb=337&re=449&var=E343D	deleterious(0)	I1YAQ0_HUMAN			YES	TRIM64B,missense_variant,p.Glu343Asp,ENST00000329862,NM_001164397.1,NM_001136486.1;							MODERATE	1029/1350	E343D	TR64B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332969		CCDS53693.1			1	
CBLN4	0	LGGM	GRCh37	20	54575878	54575878	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	83	8	.	.	ENST00000064571.2:c.317T>C	p.Phe106Ser	p.F106S	ENST00000064571	NM_080617.5	106	tTc/tCc	0	1	1	UPI0000046135	0	getma.org/pdb.php?prot=CBLN4_HUMAN&from=72&to=198&var=F106S	ENST00000064571		ENSG00000054803	16231		91	3.02		HGNC	p.F106S		CBLN4		SNV							ENST00000064571	protein_coding	getma.org/?cm=var&var=hg19,20,54575878,A,G&fts=all		PROSITE_profiles:PS50871,hmmpanther:PTHR22923:SF3,hmmpanther:PTHR22923,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007		F/S		G	medium	1618/3024		getma.org/?cm=msa&ty=f&p=CBLN4_HUMAN&rb=72&re=198&var=F106S	deleterious(0)				YES	CBLN4,missense_variant,p.Phe106Ser,ENST00000064571,NM_080617.5;							MODERATE	317/606	F106S	CBLN4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000064571		CCDS13448.1			1	
B4GALNT3	0	LGGM	GRCh37	12	662501	662501	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	8	.	.	ENST00000266383.5:c.1412G>A	p.Arg471His	p.R471H	ENST00000266383	NM_173593.3	471	cGc/cAc	0	1	1	UPI0000366851	0	NA	ENST00000266383		ENSG00000139044	24137		43	-0.29		HGNC	p.R471H	rs544500279	B4GALNT3		SNV							ENST00000266383	protein_coding	getma.org/?cm=var&var=hg19,12,662501,G,A&fts=all	A:0	hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF15		R/H		A	neutral	1425/5068	1.51E-05	getma.org/?cm=msa&ty=f&p=B4GN3_HUMAN&rb=278&re=477&var=R471H	tolerated(0.69)		A:0	A:0.001	YES	B4GALNT3,missense_variant,p.Arg471His,ENST00000266383,NM_173593.3;B4GALNT3,missense_variant,p.Arg374His,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;		A:0.0002					MODERATE	1412/2997	R471H	B4GN3_HUMAN		A:0	Transcript		benign(0)	.	ENSP00000266383	8.24E-06	CCDS8504.1		A:0	1	
TADA3	0	LGGM	GRCh37	3	9822048	9822048	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	30	8	.	.	ENST00000301964.2:c.1292A>T	p.Asp431Val	p.D431V	ENST00000301964	NM_006354.3	431	gAt/gTt	0	1	1	UPI000006F454	0	NA	ENST00000301964		ENSG00000171148	19422		38	1.78		HGNC	p.D431V		TADA3		SNV							ENST00000301964	protein_coding	getma.org/?cm=var&var=hg19,3,9822048,T,A&fts=all		Pfam_domain:PF10198,hmmpanther:PTHR13556		D/V		A	low	1851/2355		getma.org/?cm=msa&ty=f&p=TADA3_HUMAN&rb=308&re=432&var=D431V	deleterious(0)	C9JMS0_HUMAN			YES	TADA3,missense_variant,p.Asp431Val,ENST00000301964,NM_006354.3;TADA3,missense_variant,p.Asp431Val,ENST00000440161,NM_001278270.1;OGG1,intron_variant,,ENST00000426518,;TADA3,downstream_gene_variant,,ENST00000343450,NM_133480.2;TADA3,non_coding_transcript_exon_variant,,ENST00000492103,;							MODERATE	1292/1299	D431V	TADA3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000307684		CCDS2583.1			1	
TTN	0	LGGM	GRCh37	2	179485984	179485984	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	151	8	.	.	ENST00000589042.1:c.45461G>T	p.Arg15154Met	p.R15154M	ENST00000589042	NM_001267550.1	15154	aGg/aTg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=13479&to=13563&var=R13513M	ENST00000591111		ENSG00000155657	12403		159	3.165		HGNC	p.R6214M		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179485984,C,A&fts=all		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		R/M		A	medium	40763/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=13479&re=13563&var=R13513M		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg15154Met,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg13513Met,ENST00000591111,;TTN,missense_variant,p.Arg12586Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg6281Met,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg6214Met,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg6089Met,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,;							MODERATE	40538/103053	R13513M	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CDH2	0	LGGM	GRCh37	18	25565605	25565605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	8	.	.	ENST00000269141.3:c.1862T>A	p.Ile621Asn	p.I621N	ENST00000269141	NM_001792.3	621	aTt/aAt	0	1	1	UPI000013D7FD	0	getma.org/pdb.php?prot=CADH2_HUMAN&from=608&to=701&var=I621N	ENST00000269141		ENSG00000170558	1759		49	3.045		HGNC	p.I621N		CDH2		SNV							ENST00000269141	protein_coding	getma.org/?cm=var&var=hg19,18,25565605,A,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313		I/N		T	medium	2286/4332		getma.org/?cm=msa&ty=f&p=CADH2_HUMAN&rb=608&re=701&var=I621N	deleterious(0)	C9JMH2_HUMAN,C9J126_HUMAN			YES	CDH2,missense_variant,p.Ile621Asn,ENST00000269141,NM_001792.3;CDH2,missense_variant,p.Ile590Asn,ENST00000399380,;							MODERATE	1862/2721	I621N	CADH2_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000269141		CCDS11891.1			1	
PSMC1	0	LGGM	GRCh37	14	90729771	90729771	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	25	8	.	.	ENST00000261303.8:c.264A>G	p.Leu88=	p.L88=	ENST00000261303	NM_002802.2	88	ttA/ttG	0	1	1	UPI00000041A5	0		ENST00000261303		ENSG00000100764	9547		33			HGNC	p.L88L		PSMC1		SNV							ENST00000261303	protein_coding			TIGRFAM_domain:TIGR01242,hmmpanther:PTHR23073:SF9,hmmpanther:PTHR23073		L		G		367/1641				Q53XL8_HUMAN,G3V4X1_HUMAN,B4DR63_HUMAN			YES	PSMC1,synonymous_variant,p.=,ENST00000261303,NM_002802.2;PSMC1,synonymous_variant,p.=,ENST00000543772,;PSMC1,intron_variant,,ENST00000553835,;PSMC1,non_coding_transcript_exon_variant,,ENST00000555679,;PSMC1,non_coding_transcript_exon_variant,,ENST00000557357,;PSMC1,non_coding_transcript_exon_variant,,ENST00000554624,;PSMC1,upstream_gene_variant,,ENST00000555787,;							LOW	264/1323		PRS4_HUMAN			Transcript			.	ENSP00000261303		CCDS32139.1			1	
GRM8	0	LGGM	GRCh37	7	126249488	126249488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	51	8	.	.	ENST00000339582.2:c.1422C>A	p.Phe474Leu	p.F474L	ENST00000339582		474	ttC/ttA	0	1	1	UPI000012F085	0	getma.org/pdb.php?prot=GRM8_HUMAN&from=74&to=478&var=F474L	ENST00000339582		ENSG00000179603	4600		59	1.535		HGNC	p.F474L		GRM8		SNV							ENST00000339582	protein_coding	getma.org/?cm=var&var=hg19,7,126249488,G,T&fts=all		Pfam_domain:PF01094,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822		F/L		T	low	2231/4057		getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=74&re=478&var=F474L	tolerated(0.15)	E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,missense_variant,p.Phe474Leu,ENST00000339582,;GRM8,missense_variant,p.Phe474Leu,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Phe474Leu,ENST00000444921,NM_000845.2;GRM8,missense_variant,p.Ser498Tyr,ENST00000405249,;GRM8,intron_variant,,ENST00000480995,;GRM8,missense_variant,p.Phe474Leu,ENST00000472701,;GRM8,missense_variant,p.Ser498Tyr,ENST00000341617,;							MODERATE	1422/2727	F474L	GRM8_HUMAN			Transcript		benign(0.044)	.	ENSP00000344173		CCDS5794.1			1	
MGA	0	LGGM	GRCh37	15	42041319	42041319	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	134	8	.	.	ENST00000219905.7:c.5514G>T	p.Met1838Ile	p.M1838I	ENST00000219905	NM_001164273.1	1838	atG/atT	0	1	1	UPI0001B2337E	0	NA	ENST00000219905		ENSG00000174197	14010		142	0.345		HGNC	p.M1838I		MGA		SNV							ENST00000570161	protein_coding	getma.org/?cm=var&var=hg19,15,42041319,G,T&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32		M/I		T	neutral	5695/12042		getma.org/?cm=msa&ty=f&p=MGAP_HUMAN&rb=594&re=1938&var=M1799I	tolerated(0.11)	H3BTF4_HUMAN,H3BP52_HUMAN			YES	MGA,missense_variant,p.Met1838Ile,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Met1799Ile,ENST00000389936,;MGA,missense_variant,p.Met1838Ile,ENST00000570161,;MGA,missense_variant,p.Met1629Ile,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Met1629Ile,ENST00000566586,;MGA,missense_variant,p.Met486Ile,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000566288,;							MODERATE	5514/9198	M1799I	MGAP_HUMAN			Transcript		benign(0.007)	.	ENSP00000219905		CCDS55959.1			1	
ZNF225	0	LGGM	GRCh37	19	44635078	44635078	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	180	8	.	.	ENST00000262894.6:c.311G>T	p.Trp104Leu	p.W104L	ENST00000262894	NM_013362.2	104	tGg/tTg	0	1	1	UPI000016960F	0	NA	ENST00000262894		ENSG00000256294	13018		188	1.445		HGNC	p.W104L		ZNF225		SNV							ENST00000262894	protein_coding	getma.org/?cm=var&var=hg19,19,44635078,G,T&fts=all		hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20		W/L		T	low	591/2495		getma.org/?cm=msa&ty=f&p=ZN225_HUMAN&rb=49&re=189&var=W104L	deleterious(0)	K7ERU6_HUMAN,K7ENA2_HUMAN			YES	ZNF225,missense_variant,p.Trp104Leu,ENST00000262894,NM_013362.2;ZNF225,missense_variant,p.Trp104Leu,ENST00000590612,;ZNF225,missense_variant,p.Trp104Leu,ENST00000589155,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000592360,;							MODERATE	311/2121	W104L	ZN225_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000262894		CCDS46100.1			1	
NEB	0	LGGM	GRCh37	2	152512863	152512863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	169	8	.	.	ENST00000397345.3:c.6299G>T	p.Arg2100Leu	p.R2100L	ENST00000397345	NM_001164508.1	2100	cGg/cTg	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		177	1.825		HGNC	p.R2100L		NEB		SNV			1				ENST00000397345	protein_coding	getma.org/?cm=var&var=hg19,2,152512863,C,A&fts=all		Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		R/L		A	low	6447/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=2063&re=2131&var=R2100L		J3QK84_HUMAN				NEB,missense_variant,p.Arg2100Leu,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Arg2100Leu,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Arg2100Leu,ENST00000603639,;NEB,missense_variant,p.Arg2100Leu,ENST00000604864,;NEB,missense_variant,p.Arg2100Leu,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Arg2100Leu,ENST00000172853,;							MODERATE	6299/20010	R2100L				Transcript		probably_damaging(0.995)	.	ENSP00000172853					1	
MAK	0	LGGM	GRCh37	6	10775593	10775593	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	166	8	.	.	ENST00000313243.2:c.1565G>T	p.Gly522Val	p.G522V	ENST00000313243		522	gGg/gTg	0	1	1	UPI0000001BCD	0	NA	ENST00000313243		ENSG00000111837	6816		174	2.175		HGNC	p.G522V		MAK		SNV			1				ENST00000354489	protein_coding	getma.org/?cm=var&var=hg19,6,10775593,C,A&fts=all				G/V		A	medium	1948/3984		getma.org/?cm=msa&ty=f&p=MAK_HUMAN&rb=371&re=621&var=G522V	tolerated(0.06)				YES	MAK,missense_variant,p.Gly522Val,ENST00000313243,;MAK,missense_variant,p.Gly522Val,ENST00000474039,NM_001242957.1,NM_001242385.1,NM_005906.4;MAK,missense_variant,p.Gly522Val,ENST00000354489,;MAK,3_prime_UTR_variant,,ENST00000538030,;SYCP2L,intron_variant,,ENST00000543878,;TMEM14B,intron_variant,,ENST00000489137,;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000463448,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000473807,;TMEM14B,intron_variant,,ENST00000463100,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,intron_variant,,ENST00000478732,;							MODERATE	1565/1872	G522V	MAK_HUMAN			Transcript		benign(0.151)	.	ENSP00000313021		CCDS4516.1			1	
TLL2	0	LGGM	GRCh37	10	98136563	98136563	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	8	.	.	ENST00000357947.3:c.2334C>T	p.His778=	p.H778=	ENST00000357947	NM_012465.3	778	caC/caT	0	1	1	UPI0000073AEE	0		ENST00000357947		ENSG00000095587	11844		13			HGNC	p.H778H		TLL2		SNV							ENST00000357947	protein_coding			PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF613,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,PIRSF_domain:PIRSF001199		H		A		2560/6756							YES	TLL2,synonymous_variant,p.=,ENST00000357947,NM_012465.3;TLL2,upstream_gene_variant,,ENST00000506028,;							LOW	2334/3048		TLL2_HUMAN			Transcript			.	ENSP00000350630		CCDS7449.1			1	
CMYA5	0	LGGM	GRCh37	5	79084870	79084870	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	129	8	.	.	ENST00000446378.2:c.11632G>A	p.Ala3878Thr	p.A3878T	ENST00000446378	NM_153610.3	3878	Gcc/Acc	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		137	2.14		HGNC	p.A3878T	rs781439380	CMYA5		SNV				0.000102			ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79084870,G,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/T		A	medium	11663/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=3802&re=3894&var=A3878T					YES	CMYA5,missense_variant,p.Ala3878Thr,ENST00000446378,NM_153610.3;CTC-431G16.2,intron_variant,,ENST00000421252,;CMYA5,non_coding_transcript_exon_variant,,ENST00000506603,;							MODERATE	11632/12210	A3878T	CMYA5_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000394770	8.27E-06	CCDS47238.1			1	
SMARCAL1	0	LGGM	GRCh37	2	217347601	217347601	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	142	8	.	.	ENST00000357276.4:c.2766G>T	p.Met922Ile	p.M922I	ENST00000357276	NM_014140.3	922	atG/atT	0	1	1	UPI000000DA30	0	NA	ENST00000357276		ENSG00000138375	11102		150	-0.345		HGNC	p.M764I		SMARCAL1		SNV			1				ENST00000392128	protein_coding	getma.org/?cm=var&var=hg19,2,217347601,G,T&fts=all		hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799		M/I		T	neutral	3096/3271		getma.org/?cm=msa&ty=f&p=SMAL1_HUMAN&rb=823&re=954&var=M922I	tolerated(0.28)	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN			YES	SMARCAL1,missense_variant,p.Met922Ile,ENST00000357276,NM_014140.3;SMARCAL1,missense_variant,p.Met922Ile,ENST00000358207,NM_001127207.1;SMARCAL1,missense_variant,p.Met764Ile,ENST00000392128,;AC098820.3,intron_variant,,ENST00000453157,;AC098820.4,downstream_gene_variant,,ENST00000414135,;AC098820.3,downstream_gene_variant,,ENST00000438978,;AC098820.3,downstream_gene_variant,,ENST00000431856,;							MODERATE	2766/2865	M922I	SMAL1_HUMAN			Transcript		benign(0)	.	ENSP00000349823		CCDS2403.1			1	
NFE2L3	0	LGGM	GRCh37	7	26224361	26224361	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	8	.	.	ENST00000056233.3:c.1043A>T	p.His348Leu	p.H348L	ENST00000056233	NM_004289.6	348	cAt/cTt	0	1	1	UPI000007206C	0	NA	ENST00000056233		ENSG00000050344	7783		71	1.61		HGNC	p.H348L		NFE2L3		SNV							ENST00000056233	protein_coding	getma.org/?cm=var&var=hg19,7,26224361,A,T&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF8		H/L		T	low	1302/3686		getma.org/?cm=msa&ty=f&p=NF2L3_HUMAN&rb=201&re=400&var=H348L	tolerated(0.65)				YES	NFE2L3,missense_variant,p.His348Leu,ENST00000056233,NM_004289.6;NFE2L3,downstream_gene_variant,,ENST00000607375,;NFE2L3,non_coding_transcript_exon_variant,,ENST00000606261,;							MODERATE	1043/2085	H348L	NF2L3_HUMAN			Transcript		benign(0.002)	.	ENSP00000056233		CCDS5396.1			1	
BCKDK	0	LGGM	GRCh37	16	31122707	31122707	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	8	.	.	ENST00000394951.1:c.932T>G	p.Ile311Ser	p.I311S	ENST00000394951		311	aTc/aGc	0	1		UPI0000126825	0	getma.org/pdb.php?prot=BCKD_HUMAN&from=264&to=403&var=I311S	ENST00000219794		ENSG00000103507	16902		36	3.1		HGNC	p.I311S		BCKDK		SNV			1				ENST00000219794	protein_coding	getma.org/?cm=var&var=hg19,16,31122707,T,G&fts=all		Prints_domain:PR00344,Superfamily_domains:SSF55874,SMART_domains:SM00387,Gene3D:3.30.565.10,Pfam_domain:PF02518,hmmpanther:PTHR11947:SF20,hmmpanther:PTHR11947,PROSITE_profiles:PS50109		I/S		G	medium	1295/2126		getma.org/?cm=msa&ty=f&p=BCKD_HUMAN&rb=264&re=403&var=I311S	deleterious(0)	H3BQP2_HUMAN,H3BNP3_HUMAN,A8MY43_HUMAN				BCKDK,missense_variant,p.Ile311Ser,ENST00000394951,;BCKDK,missense_variant,p.Ile311Ser,ENST00000219794,NM_005881.3,NM_001122957.2;BCKDK,missense_variant,p.Ile311Ser,ENST00000394950,;BCKDK,missense_variant,p.Ile7Ser,ENST00000567682,;BCKDK,intron_variant,,ENST00000287507,NM_001271926.1;KAT8,upstream_gene_variant,,ENST00000543774,;BCKDK,downstream_gene_variant,,ENST00000484226,;BCKDK,downstream_gene_variant,,ENST00000561755,;BCKDK,downstream_gene_variant,,ENST00000567676,;AC135050.1,downstream_gene_variant,,ENST00000517000,;BCKDK,3_prime_UTR_variant,,ENST00000567530,;BCKDK,non_coding_transcript_exon_variant,,ENST00000566568,;							MODERATE	932/1239	I311S	BCKD_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000219794		CCDS10705.1			1	
EIF4G3	0	LGGM	GRCh37	1	21186971	21186971	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	48	8	.	.	ENST00000602326.1:c.3001A>T	p.Thr1001Ser	p.T1001S	ENST00000602326	NM_001198802.1	1001	Act/Tct	0	1		UPI0000070825	0	NA	ENST00000264211		ENSG00000075151	3298		56	2.235		HGNC	p.T599S		EIF4G3		SNV							ENST00000536266	protein_coding	getma.org/?cm=var&var=hg19,1,21186971,T,A&fts=all		Gene3D:1.25.40.180,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		T/S		A	medium	3178/5802		getma.org/?cm=msa&ty=f&p=IF4G3_HUMAN&rb=984&re=1183&var=T995S	deleterious(0)	F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,missense_variant,p.Thr1001Ser,ENST00000602326,NM_001198802.1;EIF4G3,missense_variant,p.Thr995Ser,ENST00000400422,NM_001198801.1;EIF4G3,missense_variant,p.Thr995Ser,ENST00000264211,NM_003760.4;EIF4G3,missense_variant,p.Thr1001Ser,ENST00000374937,;EIF4G3,missense_variant,p.Thr715Ser,ENST00000374935,;EIF4G3,missense_variant,p.Thr599Ser,ENST00000536266,;EIF4G3,missense_variant,p.Thr485Ser,ENST00000537738,;							MODERATE	2983/4758	T995S	IF4G3_HUMAN			Transcript		benign(0.403)	.	ENSP00000264211		CCDS214.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103090661	103090661	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	58	9	.	.	ENST00000398093.3:c.8850A>C	p.Lys2950Asn	p.K2950N	ENST00000398093		2950	aaA/aaC	0	1		UPI0000418CA2	0	getma.org/pdb.php?prot=DYHC2_HUMAN&from=2895&to=3231&var=K2950N	ENST00000375735		ENSG00000187240	2962		67	2.815		HGNC	p.K2950N		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,103090661,A,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		K/N		C	medium	8994/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=2895&re=3231&var=K2950N						DYNC2H1,missense_variant,p.Lys2950Asn,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Lys2950Asn,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,downstream_gene_variant,,ENST00000533027,;							MODERATE	8850/12924	K2950N	DYHC2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000364887		CCDS53701.1			1	
RPL24	0	LGGM	GRCh37	3	101399999	101399999	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	199	9	.	.	ENST00000394077.3:c.454C>A	p.Arg152=	p.R152=	ENST00000394077	NM_000986.3	152	Cga/Aga	0	1	1	UPI0000001688	0		ENST00000394077		ENSG00000114391	10325		208			HGNC	p.R152R		RPL24		SNV							ENST00000394077	protein_coding			hmmpanther:PTHR10792		R		T		560/623							YES	RPL24,synonymous_variant,p.=,ENST00000394077,NM_000986.3;RPL24,3_prime_UTR_variant,,ENST00000495401,;ZBTB11,upstream_gene_variant,,ENST00000312938,NM_014415.3;ZBTB11,upstream_gene_variant,,ENST00000461821,;RPL24,downstream_gene_variant,,ENST00000469605,;ZBTB11-AS1,downstream_gene_variant,,ENST00000609682,;ZBTB11-AS1,downstream_gene_variant,,ENST00000536865,;RPL24,non_coding_transcript_exon_variant,,ENST00000488288,;RPL24,non_coding_transcript_exon_variant,,ENST00000464595,;RPL24,downstream_gene_variant,,ENST00000470961,;							LOW	454/474		RL24_HUMAN			Transcript			.	ENSP00000377640		CCDS33809.1			1	
ZNF804A	0	LGGM	GRCh37	2	185801509	185801509	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	112	9	.	.	ENST00000302277.6:c.1386T>C	p.Phe462=	p.F462=	ENST00000302277	NM_194250.1	462	ttT/ttC	0	1	1	UPI00001B4B18	0		ENST00000302277		ENSG00000170396	21711		121			HGNC	p.F462F		ZNF804A		SNV							ENST00000302277	protein_coding			hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614		F		C		1980/4690							YES	ZNF804A,synonymous_variant,p.=,ENST00000302277,NM_194250.1;							LOW	1386/3630		Z804A_HUMAN			Transcript			.	ENSP00000303252		CCDS2291.1			1	
LEMD3	0	LGGM	GRCh37	12	65639490	65639490	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	61	9	.	.	ENST00000308330.2:c.2429T>C	p.Ile810Thr	p.I810T	ENST00000308330	NM_014319.4	810	aTt/aCt	0	1	1	UPI000012EB75	0	getma.org/pdb.php?prot=MAN1_HUMAN&from=752&to=911&var=I810T	ENST00000308330		ENSG00000174106	28887		70	1.94		HGNC	p.I810T		LEMD3		SNV			1				ENST00000308330	protein_coding	getma.org/?cm=var&var=hg19,12,65639490,T,C&fts=all		hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428,Gene3D:3.30.70.330,Superfamily_domains:SSF54928		I/T		C	medium	2455/4764		getma.org/?cm=msa&ty=f&p=MAN1_HUMAN&rb=752&re=911&var=I810T	deleterious(0)	B4DI45_HUMAN			YES	LEMD3,missense_variant,p.Ile810Thr,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,non_coding_transcript_exon_variant,,ENST00000539442,;LEMD3,non_coding_transcript_exon_variant,,ENST00000545026,;LEMD3,non_coding_transcript_exon_variant,,ENST00000544506,;LEMD3,downstream_gene_variant,,ENST00000542032,;							MODERATE	2429/2736	I810T	MAN1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000308369		CCDS8972.1			1	
TM7SF3	0	LGGM	GRCh37	12	27127091	27127091	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	35	9	.	.	ENST00000343028.4:c.1520G>T	p.Arg507Ile	p.R507I	ENST00000343028	NM_016551.2	507	aGa/aTa	0	1	1	UPI0000136849	0	NA	ENST00000343028		ENSG00000064115	23049		44	0.975		HGNC	p.R221I		TM7SF3		SNV							ENST00000545344	protein_coding	getma.org/?cm=var&var=hg19,12,27127091,C,A&fts=all		hmmpanther:PTHR15937		R/I		A	low	1746/2709		getma.org/?cm=msa&ty=f&p=TM7S3_HUMAN&rb=505&re=570&var=R507I	deleterious(0)	F5H587_HUMAN,F5H3K5_HUMAN,F5GXE1_HUMAN,F5GWC3_HUMAN			YES	TM7SF3,missense_variant,p.Arg507Ile,ENST00000343028,NM_016551.2;TM7SF3,missense_variant,p.Arg221Ile,ENST00000545344,;TM7SF3,downstream_gene_variant,,ENST00000545303,;TM7SF3,downstream_gene_variant,,ENST00000537406,;RP11-421F16.3,intron_variant,,ENST00000500632,;TM7SF3,non_coding_transcript_exon_variant,,ENST00000544179,;TM7SF3,downstream_gene_variant,,ENST00000535260,;TM7SF3,downstream_gene_variant,,ENST00000543882,;TM7SF3,downstream_gene_variant,,ENST00000541081,;							MODERATE	1520/1713	R507I	TM7S3_HUMAN			Transcript		possibly_damaging(0.83)	.	ENSP00000342322		CCDS8710.1			1	
VWA5A	0	LGGM	GRCh37	11	123994077	123994077	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	48	9	.	.	ENST00000456829.2:c.935C>T	p.Thr312Ile	p.T312I	ENST00000456829	NM_001130142.1	312	aCa/aTa	0	1		UPI0000158B80	0	NA	ENST00000392748		ENSG00000110002	6658		57	2.985		HGNC	p.T312I		VWA5A		SNV							ENST00000392748	protein_coding	getma.org/?cm=var&var=hg19,11,123994077,C,T&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF13768,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF100,SMART_domains:SM00327,Superfamily_domains:SSF53300		T/I		T	medium	1029/3419		getma.org/?cm=msa&ty=f&p=VMA5A_HUMAN&rb=280&re=443&var=T312I	deleterious(0)					VWA5A,missense_variant,p.Thr312Ile,ENST00000456829,NM_001130142.1;VWA5A,missense_variant,p.Thr312Ile,ENST00000392748,NM_014622.4;VWA5A,missense_variant,p.Thr312Ile,ENST00000360334,;VWA5A,missense_variant,p.Thr328Ile,ENST00000392744,;VWA5A,missense_variant,p.Thr312Ile,ENST00000449321,;VWA5A,missense_variant,p.Thr312Ile,ENST00000361352,NM_198315.2;							MODERATE	935/2361	T312I	VMA5A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000376504		CCDS8444.1			1	
ITPKB	0	LGGM	GRCh37	1	226834913	226834913	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	46	9	.	.	ENST00000429204.1:c.2201C>T	p.Ala734Val	p.A734V	ENST00000429204	NM_002221.3	734	gCc/gTc	0	1		UPI000013D92B	0	getma.org/pdb.php?prot=IP3KB_HUMAN&from=726&to=937&var=A734V	ENST00000272117		ENSG00000143772	6179		55	2		HGNC	p.A734V		ITPKB		SNV							ENST00000429204	protein_coding	getma.org/?cm=var&var=hg19,1,226834913,G,A&fts=all		Pfam_domain:PF03770,hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF4,Superfamily_domains:SSF56104		A/V		A	medium	2201/5822		getma.org/?cm=msa&ty=f&p=IP3KB_HUMAN&rb=726&re=937&var=A734V	deleterious(0.04)					ITPKB,missense_variant,p.Ala734Val,ENST00000429204,NM_002221.3;ITPKB,missense_variant,p.Ala734Val,ENST00000272117,;							MODERATE	2201/2841	A734V	IP3KB_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000272117		CCDS1555.1			1	
CTAGE1	0	LGGM	GRCh37	18	19995825	19995825	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	192	9	.	.	ENST00000391403.2:c.1950C>A	p.Pro650=	p.P650=	ENST00000391403	NM_172241.2	650	ccC/ccA	0	1	1	UPI00000721F4	0		ENST00000391403		ENSG00000212710	24346		201			HGNC	p.P650P		CTAGE1		SNV							ENST00000391403	protein_coding			hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF41		P		T		2054/4306				Q8NEG8_HUMAN			YES	CTAGE1,synonymous_variant,p.=,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;							LOW	1950/2238		CTGE2_HUMAN			Transcript			.	ENSP00000375220		CCDS45837.1			1	
FAM21A	0	LGGM	GRCh37	10	51829389	51829389	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	236	9	.	.	ENST00000282633.5:c.209G>T	p.Arg70Leu	p.R70L	ENST00000282633	NM_001005751.1	70	cGg/cTg	0	1	1	UPI000044FEAB	0	NA	ENST00000282633		ENSG00000099290	23416		245	2.045		HGNC	p.R70L		FAM21A		SNV							ENST00000314664	protein_coding	getma.org/?cm=var&var=hg19,10,51829389,G,T&fts=all		hmmpanther:PTHR21669,hmmpanther:PTHR21669:SF4		R/L		T	medium	254/4272		getma.org/?cm=msa&ty=f&p=FA21A_HUMAN&rb=1&re=1339&var=R70L	deleterious(0)	Q6P0Q7_HUMAN,Q5SNT8_HUMAN,B4E255_HUMAN			YES	FAM21A,missense_variant,p.Arg70Leu,ENST00000351071,;FAM21A,missense_variant,p.Arg70Leu,ENST00000314664,;FAM21A,missense_variant,p.Arg70Leu,ENST00000282633,NM_001005751.1;FAM21A,non_coding_transcript_exon_variant,,ENST00000492914,;RP11-324H6.5,upstream_gene_variant,,ENST00000456967,;FAM21A,missense_variant,p.Arg70Leu,ENST00000434114,;							MODERATE	209/4026	R70L	FA21A_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000282633		CCDS41527.1			1	
CR1	0	LGGM	GRCh37	1	207790036	207790036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	214	9	.	.	ENST00000367049.4:c.6778G>T	p.Gly2260Trp	p.G2260W	ENST00000367049	NM_000651.4	2260	Ggg/Tgg	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1774&to=1840&var=G1810W	ENST00000367051		ENSG00000203710	2334		223	4.645		HGNC	p.G1810W		CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207790036,G,T&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		G/W		T	high	5539/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1774&re=1840&var=G1810W	deleterious(0)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Gly2260Trp,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Gly1810Trp,ENST00000367053,;CR1,missense_variant,p.Gly1810Trp,ENST00000367052,;CR1,missense_variant,p.Gly1810Trp,ENST00000367051,;CR1,missense_variant,p.Gly1810Trp,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Gly433Trp,ENST00000529814,;							MODERATE	5428/6120	G1810W	CR1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000356018					1	
HIGD2A	0	LGGM	GRCh37	5	175816379	175816379	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	10	.	.	ENST00000274787.2:c.202C>T	p.His68Tyr	p.H68Y	ENST00000274787	NM_138820.2	68	Cac/Tac	0	1	1	UPI000006F5BF	0	getma.org/pdb.php?prot=HIG2A_HUMAN&from=43&to=96&var=H68Y	ENST00000274787		ENSG00000146066	28311		54	1.41		HGNC	p.H68Y		HIGD2A		SNV							ENST00000274787	protein_coding	getma.org/?cm=var&var=hg19,5,175816379,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS51503,hmmpanther:PTHR12297,hmmpanther:PTHR12297:SF11,Pfam_domain:PF04588		H/Y		T	low	275/668		getma.org/?cm=msa&ty=f&p=HIG2A_HUMAN&rb=43&re=96&var=H68Y	tolerated(0.44)				YES	HIGD2A,missense_variant,p.His68Tyr,ENST00000274787,NM_138820.2;ARL10,intron_variant,,ENST00000514533,;NOP16,upstream_gene_variant,,ENST00000389158,;CLTB,downstream_gene_variant,,ENST00000310418,NM_007097.3;CLTB,downstream_gene_variant,,ENST00000345807,NM_001834.3;NOP16,upstream_gene_variant,,ENST00000509257,;NOP16,upstream_gene_variant,,ENST00000510123,NM_001256539.1,NM_001256540.1,NM_016391.5;CLTB,downstream_gene_variant,,ENST00000502877,;CLTB,downstream_gene_variant,,ENST00000508425,;NOP16,upstream_gene_variant,,ENST00000507413,;ARL10,downstream_gene_variant,,ENST00000503175,;CLTB,downstream_gene_variant,,ENST00000510734,;NOP16,upstream_gene_variant,,ENST00000510608,;NOP16,upstream_gene_variant,,ENST00000503849,;NOP16,upstream_gene_variant,,ENST00000502663,;NOP16,upstream_gene_variant,,ENST00000504821,;NOP16,upstream_gene_variant,,ENST00000502577,;							MODERATE	202/321	H68Y	HIG2A_HUMAN			Transcript		benign(0.009)	.	ENSP00000274787		CCDS4401.1			1	
PTPRN	0	LGGM	GRCh37	2	220172532	220172532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	122	10	.	.	ENST00000295718.2:c.148C>A	p.Leu50Met	p.L50M	ENST00000295718	NM_002846.3	50	Ctg/Atg	0	1	1	UPI0000132999	0	NA	ENST00000295718		ENSG00000054356	9676		132	1.355		HGNC	p.L17M		PTPRN		SNV							ENST00000440552	protein_coding	getma.org/?cm=var&var=hg19,2,220172532,G,T&fts=all				L/M		T	low	389/3784		getma.org/?cm=msa&ty=f&p=PTPRN_HUMAN&rb=1&re=200&var=L50M	tolerated(0.22)	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN			YES	PTPRN,missense_variant,p.Leu50Met,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Leu50Met,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Leu17Met,ENST00000440552,;PTPRN,5_prime_UTR_variant,,ENST00000423636,NM_001199764.1;PTPRN,5_prime_UTR_variant,,ENST00000446182,;PTPRN,5_prime_UTR_variant,,ENST00000412847,;PTPRN,5_prime_UTR_variant,,ENST00000442029,;PTPRN,5_prime_UTR_variant,,ENST00000451506,;AC114803.3,downstream_gene_variant,,ENST00000417355,;PTPRN,non_coding_transcript_exon_variant,,ENST00000468454,;PTPRN,3_prime_UTR_variant,,ENST00000606213,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,non_coding_transcript_exon_variant,,ENST00000477819,;PTPRN,non_coding_transcript_exon_variant,,ENST00000484986,;PTPRN,upstream_gene_variant,,ENST00000476930,;							MODERATE	148/2940	L50M	PTPRN_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000295718		CCDS2440.1			1	
ZNF98	0	LGGM	GRCh37	19	22574633	22574633	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	10	.	.	ENST00000357774.5:c.1404C>G	p.Gly468=	p.G468=	ENST00000357774	NM_001098626.1	468	ggC/ggG	0	1	1	UPI0000251DC5	0		ENST00000357774		ENSG00000197360	13174		32			HGNC	p.G468G		ZNF98		SNV							ENST00000357774	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF108,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		C		1526/2338				M0QZS3_HUMAN			YES	ZNF98,synonymous_variant,p.=,ENST00000357774,NM_001098626.1;ZNF98,downstream_gene_variant,,ENST00000593657,;							LOW	1404/1719		ZNF98_HUMAN			Transcript			.	ENSP00000350418		CCDS46031.1			1	
PRDM2	0	LGGM	GRCh37	1	14107060	14107060	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	44	10	.	.	ENST00000235372.7:c.2770G>T	p.Asp924Tyr	p.D924Y	ENST00000235372	NM_012231.4	924	Gat/Tat	0	1	1	UPI000013C9CD	0	NA	ENST00000235372		ENSG00000116731	9347		54	1.39		HGNC	p.D924Y		PRDM2		SNV							ENST00000235372	protein_coding	getma.org/?cm=var&var=hg19,1,14107060,G,T&fts=all		PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4		D/Y		T	low	3626/7957		getma.org/?cm=msa&ty=f&p=PRDM2_HUMAN&rb=907&re=1106&var=D924Y		S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,missense_variant,p.Asp924Tyr,ENST00000235372,NM_012231.4;PRDM2,missense_variant,p.Asp924Tyr,ENST00000311066,NM_015866.4;PRDM2,missense_variant,p.Asp723Tyr,ENST00000413440,NM_001007257.2;PRDM2,missense_variant,p.Asp723Tyr,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;							MODERATE	2770/5157	D924Y	PRDM2_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000235372		CCDS150.1			1	
ADAMTS19	0	LGGM	GRCh37	5	128958019	128958019	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	10	.	.	ENST00000274487.4:c.1730C>A	p.Ala577Asp	p.A577D	ENST00000274487	NM_133638.3	577	gCt/gAt	0	1	1	UPI000013DA0D	0	getma.org/pdb.php?prot=ATS19_HUMAN&from=546&to=633&var=A577D	ENST00000274487		ENSG00000145808	17111		26	3.105		HGNC	p.A577D		ADAMTS19		SNV							ENST00000274487	protein_coding	getma.org/?cm=var&var=hg19,5,128958019,C,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,SMART_domains:SM00608		A/D		A	medium	1875/5234		getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=546&re=633&var=A577D	deleterious(0)				YES	ADAMTS19,missense_variant,p.Ala577Asp,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;							MODERATE	1730/3624	A577D	ATS19_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000274487		CCDS4146.1			1	
PCDHB5	0	LGGM	GRCh37	5	140515839	140515839	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	135	10	.	.	ENST00000231134.5:c.823G>T	p.Gly275Trp	p.G275W	ENST00000231134	NM_015669.2	275	Ggg/Tgg	0	1	1	UPI00001273E1	0	getma.org/pdb.php?prot=PCDB5_HUMAN&from=247&to=337&var=G275W	ENST00000231134		ENSG00000113209	8690		145	4.575		HGNC	p.G275W		PCDHB5		SNV							ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140515839,G,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		G/W		T	high	1040/2904		getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=247&re=337&var=G275W	deleterious_low_confidence(0)				YES	PCDHB5,missense_variant,p.Gly275Trp,ENST00000231134,NM_015669.2;							MODERATE	823/2388	G275W	PCDB5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000231134		CCDS4247.1			1	
ZNF682	0	LGGM	GRCh37	19	20117170	20117170	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	49	10	.	.	ENST00000397165.2:c.1141T>A	p.Phe381Ile	p.F381I	ENST00000397165	NM_033196.2	381	Ttc/Atc	0	1	1	UPI000007275A	0	getma.org/pdb.php?prot=ZN682_HUMAN&from=381&to=382&var=F381I	ENST00000397165		ENSG00000197124	28857		59	-0.28		HGNC	p.F349I		ZNF682		SNV							ENST00000358523	protein_coding	getma.org/?cm=var&var=hg19,19,20117170,A,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/I		T	neutral	1302/3245		getma.org/?cm=msa&ty=f&p=ZN682_HUMAN&rb=351&re=412&var=F381I	tolerated(0.3)	M0R067_HUMAN			YES	ZNF682,missense_variant,p.Phe381Ile,ENST00000397165,NM_033196.2;ZNF682,missense_variant,p.Phe349Ile,ENST00000397162,NM_001077349.1;ZNF682,missense_variant,p.Phe349Ile,ENST00000358523,;ZNF682,missense_variant,p.Phe305Ile,ENST00000595736,;ZNF682,missense_variant,p.Phe387Ile,ENST00000597972,;ZNF682,intron_variant,,ENST00000596019,;ZNF682,intron_variant,,ENST00000602079,;ZNF682,intron_variant,,ENST00000594127,;ZNF682,downstream_gene_variant,,ENST00000601100,;ZNF682,downstream_gene_variant,,ENST00000593468,;ZNF682,non_coding_transcript_exon_variant,,ENST00000601365,;ZNF682,downstream_gene_variant,,ENST00000595534,;							MODERATE	1141/1497	F381I	ZN682_HUMAN			Transcript		benign(0.017)	.	ENSP00000380351		CCDS42533.1			1	
ZNF852	0	LGGM	GRCh37	3	44541628	44541628	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	39	10	.	.	ENST00000436261.1:c.641C>T	p.Pro214Leu	p.P214L	ENST00000436261	NM_001287349.1	214	cCc/cTc	0	1	1	UPI000198C97D	0		ENST00000436261		ENSG00000178917	27713		49			HGNC	p.P214L		ZNF852		SNV							ENST00000313378	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF192,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		P/L		A		802/1968			deleterious(0)				YES	ZNF852,missense_variant,p.Pro214Leu,ENST00000436261,NM_001287349.1;ZNF852,non_coding_transcript_exon_variant,,ENST00000489411,;ZNF852,non_coding_transcript_exon_variant,,ENST00000463067,;							MODERATE	641/1632		ZN852_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000389841					1	
CIT	0	LGGM	GRCh37	12	120263007	120263007	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	6	11	.	.	ENST00000392521.2:c.919A>T	p.Thr307Ser	p.T307S	ENST00000392521	NM_001206999.1	307	Acc/Tcc	0	1		UPI00001908FD	0	getma.org/pdb.php?prot=CTRO_HUMAN&from=97&to=360&var=T307S	ENST00000261833		ENSG00000122966	1985		17	0.55		HGNC	p.T307S		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120263007,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF038145,Superfamily_domains:SSF56112		T/S		A	neutral	972/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=97&re=360&var=T307S	tolerated(0.27)					CIT,missense_variant,p.Thr307Ser,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Thr307Ser,ENST00000261833,NM_007174.2;CIT,intron_variant,,ENST00000536325,;							MODERATE	919/6084	T307S	CTRO_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000261833		CCDS9192.1			1	
MDN1	0	LGGM	GRCh37	6	90399677	90399677	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	31	11	.	.	ENST00000369393.3:c.10935G>T	p.Pro3645=	p.P3645=	ENST00000369393		3645	ccG/ccT	0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		42			HGNC	p.P3645P		MDN1		SNV							ENST00000428876	protein_coding			PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		P		A		11051/18413				M0QXR3_HUMAN			YES	MDN1,synonymous_variant,p.=,ENST00000369393,;MDN1,synonymous_variant,p.=,ENST00000428876,NM_014611.1;							LOW	10935/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
HIGD2A	0	LGGM	GRCh37	5	175816409	175816409	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	42	11	.	.	ENST00000274787.2:c.232A>C	p.Met78Leu	p.M78L	ENST00000274787	NM_138820.2	78	Atg/Ctg	0	1	1	UPI000006F5BF	0	getma.org/pdb.php?prot=HIG2A_HUMAN&from=43&to=96&var=M78L	ENST00000274787		ENSG00000146066	28311	0.000173	53	0.435		HGNC	p.M78L	rs745765668	HIGD2A		SNV							ENST00000274787	protein_coding	getma.org/?cm=var&var=hg19,5,175816409,A,C&fts=all		PROSITE_profiles:PS51503,hmmpanther:PTHR12297,hmmpanther:PTHR12297:SF11,Pfam_domain:PF04588		M/L		C	neutral	305/668	1.51E-05	getma.org/?cm=msa&ty=f&p=HIG2A_HUMAN&rb=43&re=96&var=M78L	tolerated(0.15)				YES	HIGD2A,missense_variant,p.Met78Leu,ENST00000274787,NM_138820.2;ARL10,intron_variant,,ENST00000514533,;NOP16,upstream_gene_variant,,ENST00000389158,;CLTB,downstream_gene_variant,,ENST00000310418,NM_007097.3;CLTB,downstream_gene_variant,,ENST00000345807,NM_001834.3;NOP16,upstream_gene_variant,,ENST00000509257,;NOP16,upstream_gene_variant,,ENST00000510123,NM_001256539.1,NM_001256540.1,NM_016391.5;CLTB,downstream_gene_variant,,ENST00000502877,;CLTB,downstream_gene_variant,,ENST00000508425,;NOP16,upstream_gene_variant,,ENST00000507413,;ARL10,downstream_gene_variant,,ENST00000503175,;CLTB,downstream_gene_variant,,ENST00000510734,;NOP16,upstream_gene_variant,,ENST00000510608,;NOP16,upstream_gene_variant,,ENST00000503849,;NOP16,upstream_gene_variant,,ENST00000502663,;NOP16,upstream_gene_variant,,ENST00000504821,;NOP16,upstream_gene_variant,,ENST00000502577,;							MODERATE	232/321	M78L	HIG2A_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000274787	2.47E-05	CCDS4401.1			1	
GGNBP1	0	LGGM	GRCh37	6	33553455	33553455	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	27	11	.	.	ENST00000374458.1:c.54C>T	p.Leu18=	p.L18=	ENST00000374458		18	ctC/ctT	0	1	1	UPI00004443EE	0		ENST00000374458		ENSG00000204188	19427		38			HGNC	p.L18L		GGNBP1		SNV							ENST00000374458	protein_coding			Pfam_domain:PF14836,hmmpanther:PTHR21646:SF2,hmmpanther:PTHR21646		L		T		684/960							YES	GGNBP1,synonymous_variant,p.=,ENST00000374458,;LINC00336,downstream_gene_variant,,ENST00000477984,;							LOW	54/330		GGNB1_HUMAN			Transcript			.	ENSP00000363582					1	
ALS2CL	0	LGGM	GRCh37	3	46722823	46722823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	12	.	.	ENST00000318962.4:c.1349G>T	p.Gly450Val	p.G450V	ENST00000318962	NM_147129.3	450	gGt/gTt	0	1	1	UPI00001B5641	0	NA	ENST00000318962		ENSG00000178038	20605		48	1.01		HGNC	p.G450V		ALS2CL		SNV							ENST00000318962	protein_coding	getma.org/?cm=var&var=hg19,3,46722823,C,A&fts=all		Superfamily_domains:0038399,SMART_domains:SM00698,hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114		G/V		A	low	1433/4741		getma.org/?cm=msa&ty=f&p=AL2CL_HUMAN&rb=412&re=470&var=G450V	deleterious(0.03)	G3V0I7_HUMAN			YES	ALS2CL,missense_variant,p.Gly450Val,ENST00000318962,NM_147129.3;ALS2CL,missense_variant,p.Gly450Val,ENST00000415953,NM_001190707.1;ALS2CL,upstream_gene_variant,,ENST00000383742,NM_182775.2;ALS2CL,missense_variant,p.Gly450Val,ENST00000450172,;ALS2CL,missense_variant,p.Val442Phe,ENST00000431015,;ALS2CL,missense_variant,p.Val449Phe,ENST00000434140,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,upstream_gene_variant,,ENST00000486301,;							MODERATE	1349/2862	G450V	AL2CL_HUMAN			Transcript		benign(0.297)	.	ENSP00000313670		CCDS2743.1			1	
OR2T8	0	LGGM	GRCh37	1	248085235	248085235	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	12	.	.	ENST00000319968.4:c.916T>A	p.Cys306Ser	p.C306S	ENST00000319968	NM_001005522.1	306	Tgt/Agt	0	1	1	UPI00001999E3	0	NA	ENST00000319968		ENSG00000177462	15020		75	-0.235		HGNC	p.C306S		OR2T8		SNV							ENST00000319968	protein_coding	getma.org/?cm=var&var=hg19,1,248085235,T,A&fts=all		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF147,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		C/S		A	neutral	916/939		getma.org/?cm=msa&ty=f&p=OR2T8_HUMAN&rb=282&re=312&var=C306S	deleterious(0.02)				YES	OR2T8,missense_variant,p.Cys306Ser,ENST00000319968,NM_001005522.1;							MODERATE	916/939	C306S	OR2T8_HUMAN			Transcript		benign(0.097)	.	ENSP00000326225		CCDS31100.1			1	
KDM6A	0	LGGM	GRCh37	X	44936049	44936049	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	12	.	.	ENST00000377967.4:c.2810A>G	p.Asn937Ser	p.N937S	ENST00000377967	NM_021140.2	937	aAt/aGt	0	1	1	UPI000013DA92	0	getma.org/pdb.php?prot=KDM6A_HUMAN&from=781&to=980&var=N937S	ENST00000377967		ENSG00000147050	12637		57	1.875		HGNC	p.N944S		KDM6A		SNV			1				ENST00000382899	protein_coding	getma.org/?cm=var&var=hg19,X,44936049,A,G&fts=all		hmmpanther:PTHR14017:SF9,hmmpanther:PTHR14017		N/S		G	low	2851/5438		getma.org/?cm=msa&ty=f&p=KDM6A_HUMAN&rb=781&re=980&var=N937S	tolerated(0.21)	Q68D33_HUMAN,Q59HG3_HUMAN,Q590H7_HUMAN			YES	KDM6A,missense_variant,p.Asn937Ser,ENST00000377967,NM_021140.2;KDM6A,missense_variant,p.Asn944Ser,ENST00000382899,;KDM6A,missense_variant,p.Asn580Ser,ENST00000433797,;KDM6A,missense_variant,p.Asn535Ser,ENST00000414389,;KDM6A,missense_variant,p.Asn892Ser,ENST00000536777,;KDM6A,missense_variant,p.Asn858Ser,ENST00000543216,;							MODERATE	2810/4206	N937S	KDM6A_HUMAN			Transcript		possibly_damaging(0.667)	.	ENSP00000367203		CCDS14265.1			1	
SLC2A2	0	LGGM	GRCh37	3	170715891	170715891	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	28	12	.	.	ENST00000314251.3:c.1376A>G	p.Asp459Gly	p.D459G	ENST00000314251	NM_001278659.1	459	gAc/gGc	0	1	1	UPI000004EC97	0	NA	ENST00000314251		ENSG00000163581	11006		40	1.695		HGNC	p.D340G		SLC2A2		SNV			1				ENST00000382808	protein_coding	getma.org/?cm=var&var=hg19,3,170715891,T,C&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF13,Gene3D:1.20.1250.20,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473		D/G		C	low	1456/3210		getma.org/?cm=msa&ty=f&p=GTR2_HUMAN&rb=13&re=499&var=D459G	tolerated(0.21)	Q6PAU8_HUMAN,C9J0E8_HUMAN			YES	SLC2A2,missense_variant,p.Asp459Gly,ENST00000314251,NM_001278659.1,NM_000340.1;SLC2A2,missense_variant,p.Asp340Gly,ENST00000382808,NM_001278658.1;RNU1-70P,upstream_gene_variant,,ENST00000362618,;SLC2A2,splice_region_variant,,ENST00000497642,;SLC2A2,splice_region_variant,,ENST00000469787,;							MODERATE	1376/1575	D459G	GTR2_HUMAN			Transcript		benign(0.012)	.	ENSP00000323568		CCDS3215.1			1	
CNTNAP3	0	LGGM	GRCh37	9	39100118	39100118	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	7	12	.	.	ENST00000297668.6:c.2785C>T	p.Leu929=	p.L929=	ENST00000297668	NM_033655.3	929	Cta/Tta	0	1	1	UPI000013E43B	0		ENST00000297668		ENSG00000106714	13834		19			HGNC	p.L841L		CNTNAP3		SNV							ENST00000358144	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		L		A		2859/5064							YES	CNTNAP3,synonymous_variant,p.=,ENST00000297668,NM_033655.3;CNTNAP3,synonymous_variant,p.=,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,;							LOW	2785/3867		CNTP3_HUMAN			Transcript			.	ENSP00000297668		CCDS6616.1			1	
ZCCHC13	0	LGGM	GRCh37	X	73524388	73524388	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	11	12	.	.	ENST00000339534.2:c.287G>C	p.Arg96Thr	p.R96T	ENST00000339534	NM_203303.2	96	aGa/aCa	0	1	1	UPI0000070721	0	getma.org/pdb.php?prot=ZCH13_HUMAN&from=89&to=106&var=R96T	ENST00000339534		ENSG00000187969	31749		23	1.19		HGNC	p.R96T		ZCCHC13		SNV							ENST00000339534	protein_coding	getma.org/?cm=var&var=hg19,X,73524388,G,C&fts=all		PROSITE_profiles:PS50158,hmmpanther:PTHR23002,hmmpanther:PTHR23002:SF53,Pfam_domain:PF00098,Gene3D:4.10.60.10,SMART_domains:SM00343,Superfamily_domains:SSF57756		R/T		C	low	364/844		getma.org/?cm=msa&ty=f&p=ZCH13_HUMAN&rb=69&re=126&var=R96T	deleterious(0.01)				YES	ZCCHC13,missense_variant,p.Arg96Thr,ENST00000339534,NM_203303.2;							MODERATE	287/501	R96T	ZCH13_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000345633		CCDS14425.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266103	41266103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	57	14	.	.	ENST00000349496.5:c.100G>A	p.Gly34Arg	p.G34R	ENST00000349496	NM_001904.3	34	Gga/Aga	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=G34R	ENST00000349496		ENSG00000168036	2514		71	2.445		HGNC	p.G34R	rs121913399,COSM5686	CTNNB1		SNV			1			0,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266103,G,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		G/R		A	medium	380/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=G34R	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Gly34Arg,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Gly34Arg,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Gly27Arg,ENST00000453024,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000405570,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000450969,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000431914,;CTNNB1,missense_variant,p.Gly34Arg,ENST00000441708,;CTNNB1,missense_variant,p.Gly27Arg,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	100/2346	G34R	CTNB1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000344456		CCDS2694.1			1	
SERPINB11	0	LGGM	GRCh37	18	61377532	61377532	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	57	13	.	.	ENST00000544088.1:c.105G>A	p.Leu35=	p.L35=	ENST00000544088	NM_080475.2	35	ctG/ctA	0	1	1	UPI00015AAB67	0		ENST00000544088		ENSG00000206072	14221		70			HGNC	p.L35L	rs747156684	SERPINB11	6.09E-05	SNV							ENST00000538847	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF137,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		L		A		167/1731				F5GYW9_HUMAN,F5GWT8_HUMAN			YES	SERPINB11,synonymous_variant,p.=,ENST00000544088,NM_080475.2;SERPINB11,synonymous_variant,p.=,ENST00000538847,;SERPINB11,5_prime_UTR_variant,,ENST00000536691,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000489748,;SERPINB11,non_coding_transcript_exon_variant,,ENST00000467649,;SERPINB11,synonymous_variant,p.=,ENST00000382749,;							LOW	105/1179					Transcript			.	ENSP00000441497	8.27E-06				1	
ZNF492	0	LGGM	GRCh37	19	22847752	22847752	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	115	13	.	.	ENST00000456783.2:c.1281C>G	p.Gly427=	p.G427=	ENST00000456783	NM_020855.2	427	ggC/ggG	0	1	1	UPI00001C200B	0		ENST00000456783		ENSG00000229676	23707		128			HGNC	p.G427G		ZNF492		SNV							ENST00000456783	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		G		1525/4245							YES	ZNF492,synonymous_variant,p.=,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;							LOW	1281/1596		ZN492_HUMAN			Transcript			.	ENSP00000413660		CCDS46032.1			1	
PCDHGA7	0	LGGM	GRCh37	5	140764397	140764397	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	14	.	.	ENST00000518325.1:c.1931T>C	p.Val644Ala	p.V644A	ENST00000518325	NM_018920.2	644	gTg/gCg	0	1	1	UPI000007146F	0	getma.org/pdb.php?prot=PCDG7_HUMAN&from=578&to=665&var=V644A	ENST00000518325		ENSG00000253537	8705		29	3.01		HGNC	p.V644A		PCDHGA7		SNV							ENST00000518325	protein_coding	getma.org/?cm=var&var=hg19,5,140764397,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/A		C	medium	1931/4605		getma.org/?cm=msa&ty=f&p=PCDG7_HUMAN&rb=578&re=665&var=V644A	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA7,missense_variant,p.Val644Ala,ENST00000518325,NM_018920.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;							MODERATE	1931/2799	V644A	PCDG7_HUMAN			Transcript		possibly_damaging(0.777)	.	ENSP00000430024		CCDS54927.1			1	
USH2A	0	LGGM	GRCh37	1	216465538	216465538	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	114	14	.	.	ENST00000307340.3:c.1819G>C	p.Asp607His	p.D607H	ENST00000307340	NM_206933.2	607	Gat/Cat	0	1	1	UPI000034E5B6	0	getma.org/pdb.php?prot=USH2A_HUMAN&from=575&to=634&var=D607H	ENST00000307340		ENSG00000042781	12601		128	1.945		HGNC	p.D607H		USH2A		SNV			1				ENST00000366942	protein_coding	getma.org/?cm=var&var=hg19,1,216465538,C,G&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00180,Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50027		D/H		G	medium	2206/18883		getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=575&re=634&var=D607H					YES	USH2A,missense_variant,p.Asp607His,ENST00000366943,;USH2A,missense_variant,p.Asp607His,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Asp607His,ENST00000366942,NM_007123.5;							MODERATE	1819/15609	D607H	USH2A_HUMAN			Transcript		benign(0.183)	.	ENSP00000305941		CCDS31025.1			1	
IGSF22	0	LGGM	GRCh37	11	18731071	18731071	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	20	14	.	.	ENST00000513874.1:c.2861C>A	p.Pro954His	p.P954H	ENST00000513874	NM_173588.3	954	cCc/cAc	0	1		UPI0000DBEF33	0	getma.org/pdb.php?prot=D6RGV7_HUMAN&from=904&to=987&var=P954H	ENST00000319338		ENSG00000179057	26750		34	1.4		HGNC	p.P954H		IGSF22		SNV							ENST00000513874	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,11,18731071,G,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF53,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/H		T	low	2748/3935		getma.org/?cm=msa&ty=f&p=D6RGV7_HUMAN&rb=904&re=987&var=P954H	deleterious(0.03)					IGSF22,missense_variant,p.Pro954His,ENST00000513874,NM_173588.3;TMEM86A,downstream_gene_variant,,ENST00000280734,NM_153347.1;RP11-1081L13.4,intron_variant,,ENST00000527285,;IGSF22,upstream_gene_variant,,ENST00000510673,;IGSF22,missense_variant,p.Pro853His,ENST00000319338,;IGSF22,non_coding_transcript_exon_variant,,ENST00000504981,;							MODERATE	2558/2712	P954H	IGS22_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322422					1	
SHKBP1	0	LGGM	GRCh37	19	41089593	41089593	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	15	.	.	ENST00000291842.5:c.1135G>A	p.Ala379Thr	p.A379T	ENST00000291842	NM_138392.3	379	Gcc/Acc	0	1	1	UPI0000036171	0	NA	ENST00000291842		ENSG00000160410	19214		37	2.71		HGNC	p.A27T		SHKBP1		SNV							ENST00000593764	protein_coding	getma.org/?cm=var&var=hg19,19,41089593,G,A&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF3		A/T		A	medium	1184/2363		getma.org/?cm=msa&ty=f&p=SHKB1_HUMAN&rb=311&re=510&var=A379T	deleterious(0)	B3KVX8_HUMAN			YES	SHKBP1,missense_variant,p.Ala379Thr,ENST00000291842,NM_138392.3;SHKBP1,missense_variant,p.Ala354Thr,ENST00000600733,;SHKBP1,missense_variant,p.Ala374Thr,ENST00000600718,;SHKBP1,missense_variant,p.Ala14Thr,ENST00000600320,;SHKBP1,missense_variant,p.Ala37Thr,ENST00000602011,;SHKBP1,missense_variant,p.Ala27Thr,ENST00000593764,;SHKBP1,upstream_gene_variant,,ENST00000597396,;SHKBP1,upstream_gene_variant,,ENST00000594298,;SHKBP1,downstream_gene_variant,,ENST00000595631,;SHKBP1,upstream_gene_variant,,ENST00000597649,;SHKBP1,downstream_gene_variant,,ENST00000600552,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000594973,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000598201,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000600791,;SHKBP1,downstream_gene_variant,,ENST00000595945,;SHKBP1,downstream_gene_variant,,ENST00000599575,;SHKBP1,upstream_gene_variant,,ENST00000596163,;SHKBP1,downstream_gene_variant,,ENST00000595803,;SHKBP1,upstream_gene_variant,,ENST00000599833,;SHKBP1,downstream_gene_variant,,ENST00000598907,;SHKBP1,downstream_gene_variant,,ENST00000598558,;SHKBP1,downstream_gene_variant,,ENST00000595523,;SHKBP1,downstream_gene_variant,,ENST00000595874,;							MODERATE	1135/2124	A379T	SHKB1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000291842		CCDS12560.1			1	
MUC16	0	LGGM	GRCh37	19	9069956	9069956	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	75	15	.	.	ENST00000397910.4:c.17490T>C	p.Pro5830=	p.P5830=	ENST00000397910	NM_024690.2	5830	ccT/ccC	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		90			HGNC	p.P5830P		MUC16		SNV							ENST00000397910	protein_coding					P		G		17694/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	17490/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
APOB	0	LGGM	GRCh37	2	21230261	21230261	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	80	15	.	.	ENST00000233242.1:c.9479A>G	p.Glu3160Gly	p.E3160G	ENST00000233242	NM_000384.2	3160	gAa/gGa	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		95	2.02		HGNC	p.E3160G		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21230261,T,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		E/G		C	medium	9607/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3073&re=3272&var=E3160G		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Glu3160Gly,ENST00000233242,NM_000384.2;							MODERATE	9479/13692	E3160G	APOB_HUMAN			Transcript		benign(0.041)	.	ENSP00000233242		CCDS1703.1			1	
BFSP1	0	LGGM	GRCh37	20	17474895	17474895	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	45	16	.	.	ENST00000377873.3:c.1822C>T	p.Leu608=	p.L608=	ENST00000377873	NM_001195.3	608	Ctg/Ttg	0	1	1	UPI00001268C7	0		ENST00000377873		ENSG00000125864	1040		61			HGNC	p.L483L		BFSP1		SNV			1				ENST00000377868	protein_coding			hmmpanther:PTHR14069,hmmpanther:PTHR14069:SF0		L		A		1862/2207				F5H0G1_HUMAN			YES	BFSP1,synonymous_variant,p.=,ENST00000377873,NM_001195.3;BFSP1,synonymous_variant,p.=,ENST00000536626,NM_001278608.1;BFSP1,synonymous_variant,p.=,ENST00000544874,NM_001278606.1;BFSP1,synonymous_variant,p.=,ENST00000377868,NM_001278607.1,NM_001161705.1;							LOW	1822/1998		BFSP1_HUMAN			Transcript			.	ENSP00000367104		CCDS13126.1			1	
CCDC17	0	LGGM	GRCh37	1	46086720	46086720	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	17	.	.	ENST00000528266.1:c.1454C>A	p.Ala485Asp	p.A485D	ENST00000528266		485	gCt/gAt	0	1	1	UPI0001AE78A9	0	NA	ENST00000528266		ENSG00000159588	26574		33	1.79		HGNC	p.A485D		CCDC17		SNV							ENST00000528266	protein_coding	getma.org/?cm=var&var=hg19,1,46086720,G,T&fts=all				A/D		T	low	1602/2181		getma.org/?cm=msa&ty=f&p=CCD17_HUMAN&rb=384&re=583&var=A485D	deleterious(0)				YES	CCDC17,missense_variant,p.Ala476Asp,ENST00000421127,NM_001190182.1,NM_001114938.2;CCDC17,missense_variant,p.Ala485Asp,ENST00000528266,;CCDC17,missense_variant,p.Ala453Asp,ENST00000343901,;CCDC17,intron_variant,,ENST00000445048,;NASP,downstream_gene_variant,,ENST00000350030,NM_002482.3;NASP,downstream_gene_variant,,ENST00000402363,;NASP,downstream_gene_variant,,ENST00000537798,NM_001195193.1;NASP,downstream_gene_variant,,ENST00000351223,NM_152298.3;NASP,downstream_gene_variant,,ENST00000372052,;NASP,downstream_gene_variant,,ENST00000531612,;NASP,downstream_gene_variant,,ENST00000534450,;CCDC17,non_coding_transcript_exon_variant,,ENST00000464739,;NASP,downstream_gene_variant,,ENST00000530073,;CCDC17,missense_variant,p.Ala453Asp,ENST00000479529,;CCDC17,3_prime_UTR_variant,,ENST00000372044,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;NASP,downstream_gene_variant,,ENST00000481782,;CCDC17,downstream_gene_variant,,ENST00000525599,;NASP,downstream_gene_variant,,ENST00000472408,;							MODERATE	1454/1869	A485D	CCD17_HUMAN			Transcript		possibly_damaging(0.603)	.	ENSP00000432172		CCDS44131.2			1	
ZNF713	0	LGGM	GRCh37	7	56006936	56006936	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	19	17	.	.	ENST00000429591.2:c.530A>G	p.Asn177Ser	p.N177S	ENST00000429591	NM_182633.1	177	aAt/aGt	0	1	1	UPI000007283F	0	getma.org/pdb.php?prot=ZN713_HUMAN&from=60&to=259&var=N177S	ENST00000429591		ENSG00000178665	22043		36	0.305		HGNC	p.N177S		ZNF713		SNV							ENST00000429591	protein_coding	getma.org/?cm=var&var=hg19,7,56006936,A,G&fts=all		hmmpanther:PTHR24384:SF80,hmmpanther:PTHR24384		N/S		G	neutral	568/3550		getma.org/?cm=msa&ty=f&p=ZN713_HUMAN&rb=60&re=259&var=N177S	tolerated(0.8)				YES	ZNF713,missense_variant,p.Asn177Ser,ENST00000429591,NM_182633.1;MRPS17,intron_variant,,ENST00000426595,;							MODERATE	530/1293	N177S	ZN713_HUMAN			Transcript		benign(0.005)	.	ENSP00000416662		CCDS34639.1			1	
ABCC12	0	LGGM	GRCh37	16	48145551	48145551	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	17	.	.	ENST00000311303.3:c.2147C>T	p.Ala716Val	p.A716V	ENST00000311303	NM_033226.2	716	gCa/gTa	0	1	1	UPI0000456987	0	getma.org/pdb.php?prot=MRP9_HUMAN&from=632&to=795&var=A716V	ENST00000311303		ENSG00000140798	14640		95	-0.345		HGNC	p.A716V		ABCC12		SNV							ENST00000497206	protein_coding	getma.org/?cm=var&var=hg19,16,48145551,G,A&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10		A/V		A	neutral	2493/5168		getma.org/?cm=msa&ty=f&p=MRP9_HUMAN&rb=632&re=795&var=A716V	tolerated(0.24)	E9PHY2_HUMAN			YES	ABCC12,missense_variant,p.Ala716Val,ENST00000311303,NM_033226.2;ABCC12,missense_variant,p.Ala716Val,ENST00000448542,;ABCC12,3_prime_UTR_variant,,ENST00000416054,;ABCC12,missense_variant,p.Ala658Val,ENST00000534418,;ABCC12,missense_variant,p.Ala716Val,ENST00000497206,;ABCC12,missense_variant,p.Ala716Val,ENST00000532494,;ABCC12,missense_variant,p.Ala716Val,ENST00000529504,;ABCC12,3_prime_UTR_variant,,ENST00000529084,;ABCC12,non_coding_transcript_exon_variant,,ENST00000533185,;							MODERATE	2147/4080	A716V	MRP9_HUMAN			Transcript		benign(0.001)	.	ENSP00000311030		CCDS10730.1			1	
NPEPPS	0	LGGM	GRCh37	17	45696403	45696403	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	62	20	.	.	ENST00000322157.4:c.2432C>A	p.Ser811Ter	p.S811*	ENST00000322157	NM_006310.3	811	tCg/tAg	0	1	1	UPI0000140D51	0	NA	ENST00000322157		ENSG00000141279	7900		82	0		HGNC	p.S811X		NPEPPS		SNV							ENST00000322157	protein_coding	getma.org/?cm=var&var=hg19,17,45696403,C,A&fts=all		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF163,Pfam_domain:PF11838		S/*		A	NA	2669/4353		NA		E9PJ74_HUMAN,B7Z1H4_HUMAN			YES	NPEPPS,stop_gained,p.Ser811Ter,ENST00000322157,NM_006310.3;NPEPPS,stop_gained,p.Ser807Ter,ENST00000530173,;NPEPPS,stop_gained,p.Ser731Ter,ENST00000544660,;NPEPPS,stop_gained,p.Ser46Ter,ENST00000528565,;RP11-580I16.2,intron_variant,,ENST00000582389,;RP11-580I16.2,intron_variant,,ENST00000582066,;RP11-580I16.2,downstream_gene_variant,,ENST00000584391,;NPEPPS,3_prime_UTR_variant,,ENST00000530514,;NPEPPS,non_coding_transcript_exon_variant,,ENST00000531486,;NPEPPS,downstream_gene_variant,,ENST00000525048,;							HIGH	2432/2760	S811*	PSA_HUMAN			Transcript			.	ENSP00000320324		CCDS45721.1			1	
GALNT7	0	LGGM	GRCh37	4	174235169	174235169	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	16	20	.	.	ENST00000265000.4:c.1450C>A	p.Arg484Ser	p.R484S	ENST00000265000	NM_017423.2	484	Cgt/Agt	0	1	1	UPI000000DB3C	0	getma.org/pdb.php?prot=GALT7_HUMAN&from=446&to=532&var=R484S	ENST00000265000		ENSG00000109586	4129		36	1.785		HGNC	p.R484S		GALNT7		SNV							ENST00000265000	protein_coding	getma.org/?cm=var&var=hg19,4,174235169,C,A&fts=all		hmmpanther:PTHR11675:SF31,hmmpanther:PTHR11675,Superfamily_domains:SSF53448		R/S		A	low	1533/4307		getma.org/?cm=msa&ty=f&p=GALT7_HUMAN&rb=446&re=532&var=R484S	deleterious(0.01)	Q4W5F7_HUMAN			YES	GALNT7,missense_variant,p.Arg484Ser,ENST00000265000,NM_017423.2;GALNT7,missense_variant,p.Arg281Ser,ENST00000505308,;GALNT7,missense_variant,p.Arg55Ser,ENST00000503213,;GALNT7,non_coding_transcript_exon_variant,,ENST00000506317,;GALNT7,upstream_gene_variant,,ENST00000515862,;							MODERATE	1450/1974	R484S	GALT7_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000265000		CCDS3815.1			1	
TAOK1	0	LGGM	GRCh37	17	27802748	27802748	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	36	21	.	.	ENST00000261716.3:c.265A>G	p.Ile89Val	p.I89V	ENST00000261716	NM_020791.2	89	Ata/Gta	0	1	1	UPI000004A033	0	getma.org/pdb.php?prot=TAOK1_HUMAN&from=28&to=281&var=I89V	ENST00000261716		ENSG00000160551	29259		57	-0.76		HGNC	p.I89V		TAOK1		SNV							ENST00000536202	protein_coding	getma.org/?cm=var&var=hg19,17,27802748,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361:SF189,hmmpanther:PTHR24361,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V		G	neutral	784/12407		getma.org/?cm=msa&ty=f&p=TAOK1_HUMAN&rb=28&re=281&var=I89V	tolerated(0.3)	J3QS76_HUMAN			YES	TAOK1,missense_variant,p.Ile89Val,ENST00000261716,NM_020791.2;TAOK1,missense_variant,p.Ile89Val,ENST00000536202,NM_025142.1;TAOK1,downstream_gene_variant,,ENST00000583121,;TAOK1,upstream_gene_variant,,ENST00000577583,;							MODERATE	265/3006	I89V	TAOK1_HUMAN			Transcript		benign(0.101)	.	ENSP00000261716		CCDS32601.1			1	
VLDLR	0	LGGM	GRCh37	9	2647537	2647537	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	13	22	.	.	ENST00000382100.3:c.1767C>T	p.Phe589=	p.F589=	ENST00000382100	NM_003383.3	589	ttC/ttT	0	1	1	UPI0000055935	0		ENST00000382100		ENSG00000147852	12698		35			HGNC	p.F589F	rs765216958,COSM3433076	VLDLR	6.06E-05	SNV			1			0,1	ENST00000382099	protein_coding			Superfamily_domains:SSF63825,SMART_domains:SM00135,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529:SF101,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		F		T		2123/9163							YES	VLDLR,synonymous_variant,p.=,ENST00000382100,NM_003383.3;VLDLR,synonymous_variant,p.=,ENST00000382099,NM_001018056.1;VLDLR,downstream_gene_variant,,ENST00000382096,;VLDLR,non_coding_transcript_exon_variant,,ENST00000478776,;					0,1		LOW	1767/2622		VLDLR_HUMAN			Transcript			.	ENSP00000371532	8.24E-06	CCDS6446.1			1	
ZNF208	0	LGGM	GRCh37	19	22156946	22156946	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	64	22	.	.	ENST00000397126.4:c.890T>C	p.Val297Ala	p.V297A	ENST00000397126	NM_007153.3	297	gTc/gCc	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		86			HGNC	p.V297A		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/A		G		1039/3992			tolerated(0.6)				YES	ZNF208,missense_variant,p.Val297Ala,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	890/3843		ZN208_HUMAN			Transcript		benign(0.008)	.	ENSP00000380315		CCDS54240.1			1	
MAP4K5	0	LGGM	GRCh37	14	50911876	50911876	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	53	22	.	.	ENST00000013125.4:c.1222G>A	p.Asp408Asn	p.D408N	ENST00000013125	NM_198794.2	408	Gat/Aat	0	1	1	UPI00015DFDAA	0	NA	ENST00000013125		ENSG00000012983	6867		75	0		HGNC	p.D408N		MAP4K5		SNV							ENST00000013125	protein_coding	getma.org/?cm=var&var=hg19,14,50911876,C,T&fts=all		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF203,PIRSF_domain:PIRSF038172		D/N		T	neutral	1541/4354		getma.org/?cm=msa&ty=f&p=M4K5_HUMAN&rb=398&re=456&var=D408N	tolerated(0.32)	G3V5C6_HUMAN,G3V4T8_HUMAN,G3V3V7_HUMAN			YES	MAP4K5,missense_variant,p.Asp408Asn,ENST00000013125,NM_198794.2,NM_006575.4;RP11-406H23.2,upstream_gene_variant,,ENST00000555257,;MAP4K5,non_coding_transcript_exon_variant,,ENST00000554990,;							MODERATE	1222/2541	D408N	M4K5_HUMAN			Transcript		benign(0.005)	.	ENSP00000013125					1	
MGAM	0	LGGM	GRCh37	7	141727518	141727518	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	41	23	.	.	ENST00000549489.2:c.1204G>A	p.Ala402Thr	p.A402T	ENST00000549489	NM_004668.2	402	Gca/Aca	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=349&to=821&var=A402T	ENST00000549489		ENSG00000257335	7043		64	1.64		HGNC	p.A402T	rs371373847,COSM2861926,COSM2861925,COSM2861924	MGAM		SNV	A:0.0003			0.000114		0,1,1,1	ENST00000549489	protein_coding	getma.org/?cm=var&var=hg19,7,141727518,G,A&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762		A/T	A:0	A	low	1299/6525	3.54E-05	getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=349&re=821&var=A402T	tolerated(0.51)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Ala402Thr,ENST00000475668,;MGAM,missense_variant,p.Ala402Thr,ENST00000549489,NM_004668.2;MGAM,upstream_gene_variant,,ENST00000495045,;					0,1,1,1		MODERATE	1204/5574	A402T	MGA_HUMAN			Transcript		benign(0.393)	.	ENSP00000447378	2.48E-05	CCDS47727.1			1	
CR1	0	LGGM	GRCh37	1	207783011	207783011	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	15	23	.	.	ENST00000367049.4:c.6273C>G	p.Pro2091=	p.P2091=	ENST00000367049	NM_000651.4	2091	ccC/ccG	0	1		UPI000046FD49	0		ENST00000367051		ENSG00000203710	2334		38			HGNC	p.P1641P		CR1		SNV			1				ENST00000367053	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		P		G		5034/7469				Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,synonymous_variant,p.=,ENST00000367049,NM_000651.4;CR1,synonymous_variant,p.=,ENST00000367053,;CR1,synonymous_variant,p.=,ENST00000367051,;CR1,synonymous_variant,p.=,ENST00000367052,;CR1,synonymous_variant,p.=,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000529814,;CR1,downstream_gene_variant,,ENST00000534202,;RP11-78B10.2,upstream_gene_variant,,ENST00000597497,;RP11-78B10.2,upstream_gene_variant,,ENST00000596003,;							LOW	4923/6120		CR1_HUMAN			Transcript			.	ENSP00000356018					1	
AIM2	0	LGGM	GRCh37	1	159035821	159035821	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	92	24	.	.	ENST00000368130.4:c.695C>A	p.Ser232Tyr	p.S232Y	ENST00000368130	NM_004833.1	232	tCt/tAt	0	1	1	UPI000012573B	0	getma.org/pdb.php?prot=AIM2_HUMAN&from=150&to=318&var=S232Y	ENST00000368130		ENSG00000163568	357		116	1.7		HGNC	p.S232Y		AIM2		SNV							ENST00000368130	protein_coding	getma.org/?cm=var&var=hg19,1,159035821,G,T&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF17,Superfamily_domains:SSF159141		S/Y		T	low	984/1529		getma.org/?cm=msa&ty=f&p=AIM2_HUMAN&rb=150&re=318&var=S232Y	tolerated(0.05)	Q5T3W0_HUMAN,Q5T3V8_HUMAN			YES	AIM2,missense_variant,p.Ser232Tyr,ENST00000368130,NM_004833.1;AIM2,missense_variant,p.Ser95Tyr,ENST00000368129,;AIM2,intron_variant,,ENST00000481829,;AIM2,downstream_gene_variant,,ENST00000411768,;							MODERATE	695/1032	S232Y	AIM2_HUMAN			Transcript		benign(0.388)	.	ENSP00000357112		CCDS1181.1			1	
GRM1	0	LGGM	GRCh37	6	146720261	146720261	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	63	27	.	.	ENST00000361719.2:c.2086C>T	p.Arg696Trp	p.R696W	ENST00000361719		696	Cgg/Tgg	0	1		UPI000013DCFD	0	NA	ENST00000282753		ENSG00000152822	4593		90	2.06		HGNC	p.R696W	COSM32397	GRM1		SNV			1			1	ENST00000392299	protein_coding	getma.org/?cm=var&var=hg19,6,146720261,C,T&fts=all		PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF00003		R/W		T	medium	2321/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=602&re=838&var=R696W	deleterious(0)					GRM1,missense_variant,p.Arg696Trp,ENST00000392299,;GRM1,missense_variant,p.Arg696Trp,ENST00000361719,;GRM1,missense_variant,p.Arg696Trp,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Arg696Trp,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Arg696Trp,ENST00000355289,;GRM1,missense_variant,p.Arg696Trp,ENST00000507907,;					1		MODERATE	2086/3585	R696W	GRM1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000282753		CCDS5209.1			1	
MERTK	0	LGGM	GRCh37	2	112687106	112687106	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	32	27	.	.	ENST00000295408.4:c.471C>A	p.Ile157=	p.I157=	ENST00000295408		157	atC/atA	0	1	1	UPI000013E252	0		ENST00000295408		ENSG00000153208	7027		59			HGNC	p.I157I		MERTK		SNV			1				ENST00000295408	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		I		A		728/3954				Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN			YES	MERTK,synonymous_variant,p.=,ENST00000295408,;MERTK,synonymous_variant,p.=,ENST00000421804,NM_006343.2;MERTK,intron_variant,,ENST00000409780,;RN7SL297P,upstream_gene_variant,,ENST00000483161,;MERTK,intron_variant,,ENST00000439966,;							LOW	471/3000		MERTK_HUMAN			Transcript			.	ENSP00000295408		CCDS2094.1			1	
BRD7	0	LGGM	GRCh37	16	50373972	50373972	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	22	28	.	.	ENST00000394689.2:c.617A>G	p.Asn206Ser	p.N206S	ENST00000394689	NM_001173984.2	206	aAt/aGt	0	1		UPI0000073E3C	0	getma.org/pdb.php?prot=BRD7_HUMAN&from=140&to=223&var=N206S	ENST00000394688		ENSG00000166164	14310		50	4.55		HGNC	p.N206S		BRD7		SNV							ENST00000394688	protein_coding	getma.org/?cm=var&var=hg19,16,50373972,T,C&fts=all		Gene3D:1.20.920.10,Pfam_domain:PF00439,Prints_domain:PR00503,PROSITE_profiles:PS50014,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12,SMART_domains:SM00297,Superfamily_domains:SSF47370		N/S		C	high	777/5370		getma.org/?cm=msa&ty=f&p=BRD7_HUMAN&rb=140&re=223&var=N206S	deleterious(0)	I3L4V5_HUMAN,I3L0Y7_HUMAN				BRD7,missense_variant,p.Asn206Ser,ENST00000394688,;BRD7,missense_variant,p.Asn206Ser,ENST00000394689,NM_001173984.2,NM_013263.4;BRD7,non_coding_transcript_exon_variant,,ENST00000475877,;							MODERATE	617/1956	N206S	BRD7_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000378180		CCDS10742.1			1	
DLEU1	0	LGGM	GRCh37	13	50678878	50678878	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	56	30	.	.	ENST00000378180.4:c.160G>A	p.Glu54Lys	p.E54K	ENST00000378180		54	Gaa/Aaa	0	1	1	UPI000012E4C3	0		ENST00000378180		ENSG00000176124	13747		86			HGNC	p.E54K		DLEU1		SNV							ENST00000378180	protein_coding					E/K		A		426/981			deleterious_low_confidence(0)	Q6ICR8_HUMAN			YES	DLEU1,missense_variant,p.Glu54Lys,ENST00000378180,;DLEU1,non_coding_transcript_exon_variant,,ENST00000469754,;DLEU1,intron_variant,,ENST00000490577,;DLEU1,intron_variant,,ENST00000467721,;DLEU1,intron_variant,,ENST00000491615,;DLEU2,intron_variant,,ENST00000425586,;DLEU1,intron_variant,,ENST00000468522,;DLEU1,intron_variant,,ENST00000491341,;DLEU1,intron_variant,,ENST00000463474,;DLEU1,intron_variant,,ENST00000468168,;DLEU1,intron_variant,,ENST00000461527,;DLEU1,intron_variant,,ENST00000476738,;DLEU1,intron_variant,,ENST00000486895,;RPL18P10,downstream_gene_variant,,ENST00000425606,;							MODERATE	160/237		LEU1_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000367422					1	
USP9X	0	LGGM	GRCh37	X	41027315	41027315	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	32	.	.	ENST00000324545.8:c.2480A>T	p.Tyr827Phe	p.Y827F	ENST00000324545	NM_001039590.2	827	tAt/tTt	0	1	1	UPI00001AF419	0	NA	ENST00000324545		ENSG00000124486	12632		37	1.825		HGNC	p.Y827F		USP9X		SNV			1				ENST00000378308	protein_coding	getma.org/?cm=var&var=hg19,X,41027315,A,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359		Y/F		T	low	3113/12401		getma.org/?cm=msa&ty=f&p=USP9X_HUMAN&rb=1&re=1552&var=Y827F	tolerated(0.09)				YES	USP9X,missense_variant,p.Tyr827Phe,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,missense_variant,p.Tyr827Phe,ENST00000378308,;USP9X,non_coding_transcript_exon_variant,,ENST00000467173,;							MODERATE	2480/7713	Y827F	USP9X_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000316357		CCDS43930.1			1	
ZNF850	0	LGGM	GRCh37	19	37240966	37240966	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	74	33	.	.	ENST00000591344.1:c.976C>T	p.Arg326Ter	p.R326*	ENST00000591344	NM_001193552.1	326	Cga/Tga	0	1	1	UPI00001D815D	0	NA	ENST00000591344		ENSG00000267041	27994		107	0		HGNC	p.R326X		ZNF850		SNV							ENST00000591344	protein_coding	getma.org/?cm=var&var=hg19,19,37240966,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF10,hmmpanther:PTHR24409,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/*		A	NA	1135/7714		NA					YES	ZNF850,stop_gained,p.Arg326Ter,ENST00000591344,NM_001193552.1,NM_001267779.1;ZNF850,intron_variant,,ENST00000589390,;							HIGH	976/3273	R326*	ZN850_HUMAN			Transcript			.	ENSP00000464976		CCDS59379.1			1	
HMCN1	0	LGGM	GRCh37	1	185935021	185935021	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	36	.	.	ENST00000271588.4:c.2186C>G	p.Pro729Arg	p.P729R	ENST00000271588	NM_031935.2	729	cCt/cGt	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=702&to=789&var=P729R	ENST00000271588		ENSG00000143341	19194		69	3.81		HGNC	p.P729R		HMCN1		SNV			1				ENST00000271588	protein_coding	getma.org/?cm=var&var=hg19,1,185935021,C,G&fts=all		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		P/R		G	high	2415/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=702&re=789&var=P729R					YES	HMCN1,missense_variant,p.Pro729Arg,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Pro729Arg,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,non_coding_transcript_exon_variant,,ENST00000493413,;							MODERATE	2186/16908	P729R	HMCN1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000271588		CCDS30956.1			1	
DIS3L2	0	LGGM	GRCh37	2	232880325	232880325	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	33	36	.	.	ENST00000325385.7:c.154A>G	p.Thr52Ala	p.T52A	ENST00000325385	NM_152383.4	52	Act/Gct	0	1	1	UPI000004BF03	0	getma.org/pdb.php?prot=DI3L2_HUMAN&from=1&to=200&var=T52A	ENST00000325385		ENSG00000144535	28648		69	-0.565		HGNC	p.T52A		DIS3L2		SNV			1				ENST00000445090	protein_coding	getma.org/?cm=var&var=hg19,2,232880325,A,G&fts=all		HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249		T/A		G	neutral	430/3501		getma.org/?cm=msa&ty=f&p=DI3L2_HUMAN&rb=1&re=200&var=T52A	tolerated(0.83)	H7C440_HUMAN,C9JGP4_HUMAN			YES	DIS3L2,missense_variant,p.Thr52Ala,ENST00000325385,NM_152383.4;DIS3L2,missense_variant,p.Thr52Ala,ENST00000273009,NM_001257281.1;DIS3L2,missense_variant,p.Thr52Ala,ENST00000409307,;DIS3L2,missense_variant,p.Thr52Ala,ENST00000409401,NM_001257282.1;DIS3L2,missense_variant,p.Thr52Ala,ENST00000360410,;DIS3L2,missense_variant,p.Thr52Ala,ENST00000441279,;AC105461.1,splice_region_variant,,ENST00000413841,;DIS3L2,upstream_gene_variant,,ENST00000470087,;DIS3L2,missense_variant,p.Thr52Ala,ENST00000433430,;DIS3L2,missense_variant,p.Thr52Ala,ENST00000390005,;DIS3L2,missense_variant,p.Thr52Ala,ENST00000445090,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000464554,;							MODERATE	154/2658	T52A	DI3L2_HUMAN			Transcript		benign(0.001)	.	ENSP00000315569		CCDS42834.1			1	
CELF2	0	LGGM	GRCh37	10	11047390	11047390	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	93	49	.	.				ENST00000437825				0	1		UPI0000072DD8	0	NA	ENST00000416382		ENSG00000048740	2550		142	0		HGNC	p.E14X		CELF2		SNV							ENST00000416382	protein_coding	getma.org/?cm=var&var=hg19,10,11047390,G,T&fts=all		hmmpanther:PTHR24622:SF164,hmmpanther:PTHR24622		E/*		T	NA	40/2398		NA		B4DZ01_HUMAN,B4DT00_HUMAN				CELF2,stop_gained,p.Glu14Ter,ENST00000379261,NM_001025077.2;CELF2,stop_gained,p.Glu14Ter,ENST00000416382,;RP1-251M9.3,downstream_gene_variant,,ENST00000437825,;							HIGH	40/1527	E14*	CELF2_HUMAN			Transcript			.	ENSP00000406451		CCDS44354.1			1	
CEP95	0	LGGM	GRCh37	17	62512917	62512917	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072969	H072969N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	78	50	.	.	ENST00000556440.2:c.444A>G	p.Lys148=	p.K148=	ENST00000556440	NM_138363.1	148	aaA/aaG	0	1	1	UPI000006F4B3	0		ENST00000556440		ENSG00000258890	25141		128			HGNC	p.K148K		CEP95		SNV							ENST00000556440	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22545:SF0,hmmpanther:PTHR22545		K		G		954/3139				K7ENV0_HUMAN,B4DMD2_HUMAN			YES	CEP95,synonymous_variant,p.=,ENST00000556440,NM_138363.1;CEP95,intron_variant,,ENST00000553412,;CEP95,intron_variant,,ENST00000580188,;CEP95,downstream_gene_variant,,ENST00000581056,;CEP95,downstream_gene_variant,,ENST00000582724,;CEP95,3_prime_UTR_variant,,ENST00000553956,;CEP95,intron_variant,,ENST00000579860,;CEP95,upstream_gene_variant,,ENST00000577960,;							LOW	444/2466		CEP95_HUMAN			Transcript			.	ENSP00000450461		CCDS45763.1			1	
HDX	0	LGGM	GRCh37	X	83724232	83724232	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072969	H072969N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	9	53	.	.	ENST00000297977.5:c.499C>T	p.Leu167=	p.L167=	ENST00000297977	NM_001177479.1	167	Cta/Tta	0	1	1	UPI00001A9DA4	0		ENST00000297977		ENSG00000165259	26411		62			HGNC	p.L167L		HDX		SNV							ENST00000297977	protein_coding			hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636		L		A		611/6200				E2QRN0_HUMAN			YES	HDX,synonymous_variant,p.=,ENST00000297977,NM_001177479.1,NM_144657.4;HDX,synonymous_variant,p.=,ENST00000506585,NM_001177478.1;HDX,synonymous_variant,p.=,ENST00000373177,;HDX,synonymous_variant,p.=,ENST00000449553,;HDX,non_coding_transcript_exon_variant,,ENST00000472135,;							LOW	499/2073		HDX_HUMAN			Transcript			.	ENSP00000297977		CCDS35342.1			1	
ABCA13	0	LGGM	GRCh37	7	48556381	48556381	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072969	H072969N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	139	100	.	.	ENST00000435803.1:c.13701T>A	p.Ala4567=	p.A4567=	ENST00000435803	NM_152701.3	4567	gcT/gcA	0	1	1	UPI00001A95EA	0		ENST00000435803		ENSG00000179869	14638		239			HGNC	p.A340A		ABCA13		SNV							ENST00000411975	protein_coding			Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		A		A		13725/17184							YES	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.3;ABCA13,synonymous_variant,p.=,ENST00000411975,;ABCA13,synonymous_variant,p.=,ENST00000544596,;ABCA13,synonymous_variant,p.=,ENST00000435451,;ABCA13,synonymous_variant,p.=,ENST00000453246,;							LOW	13701/15177		ABCAD_HUMAN			Transcript			.	ENSP00000411096		CCDS47584.1			1	
FAM76B	0	LGGM	GRCh37	11	95509138	95509138	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	12	2	.	.	ENST00000358780.5:c.878C>A	p.Thr293Lys	p.T293K	ENST00000358780	NM_144664.4	293	aCa/aAa	0	1	1	UPI0000D62675	0	NA	ENST00000358780		ENSG00000077458	28492		14	0.345		HGNC	p.T293K		FAM76B		SNV							ENST00000358780	protein_coding	getma.org/?cm=var&var=hg19,11,95509138,G,T&fts=all		hmmpanther:PTHR22875:SF9,hmmpanther:PTHR22875		T/K		T	neutral	1191/3952		getma.org/?cm=msa&ty=f&p=FA76B_HUMAN&rb=137&re=308&var=T293K	tolerated(0.95)				YES	FAM76B,missense_variant,p.Thr293Lys,ENST00000358780,NM_144664.4;FAM76B,missense_variant,p.Thr292Lys,ENST00000536839,;FAM76B,3_prime_UTR_variant,,ENST00000398187,;FAM76B,3_prime_UTR_variant,,ENST00000543641,;FAM76B,non_coding_transcript_exon_variant,,ENST00000545813,;FAM76B,non_coding_transcript_exon_variant,,ENST00000541418,;FAM76B,downstream_gene_variant,,ENST00000545654,;FAM76B,downstream_gene_variant,,ENST00000535919,;							MODERATE	878/1020	T293K	FA76B_HUMAN			Transcript		benign(0.049)	.	ENSP00000351631		CCDS41700.1			1	
SLC9A1	0	LGGM	GRCh37	1	27426801	27426801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	4	2	.	.	ENST00000263980.3:c.2445G>T	p.Gln815His	p.Q815H	ENST00000263980	NM_003047.4	815	caG/caT	0	1	1	UPI000012FD1B	0	NA	ENST00000263980		ENSG00000090020	11071		6	0.69		HGNC	p.Q476H		SLC9A1		SNV							ENST00000545949	protein_coding	getma.org/?cm=var&var=hg19,1,27426801,C,A&fts=all				Q/H		A	neutral	3021/4516		getma.org/?cm=msa&ty=f&p=SL9A1_HUMAN&rb=706&re=815&var=Q815H	deleterious_low_confidence(0)	B4DTZ6_HUMAN,B1ALD5_HUMAN			YES	SLC9A1,missense_variant,p.Gln815His,ENST00000263980,NM_003047.4;SLC9A1,missense_variant,p.Gln476His,ENST00000545949,;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,downstream_gene_variant,,ENST00000447808,;							MODERATE	2445/2448	Q815H	SL9A1_HUMAN			Transcript		benign(0.216)	.	ENSP00000263980		CCDS295.1			1	
TTC40	0	LGGM	GRCh37	10	134694422	134694422	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	6	2	.	.	ENST00000368586.5:c.3742A>G	p.Ile1248Val	p.I1248V	ENST00000368586	NM_001200049.2	1248	Atc/Gtc	0	1	1	UPI0001B79116	0		ENST00000368586		ENSG00000171811	25247		8			HGNC	p.I1248V		TTC40		SNV							ENST00000368586	protein_coding			hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977		I/V		C		3843/8278			tolerated(0.12)				YES	TTC40,missense_variant,p.Ile1248Val,ENST00000368586,NM_001200049.2;TTC40,missense_variant,p.Ile1248Val,ENST00000368582,;TTC40,upstream_gene_variant,,ENST00000417862,;							MODERATE	3742/8148		TTC40_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000357575		CCDS58101.1			1	
BPTF	0	LGGM	GRCh37	17	65889837	65889837	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	21	2	.	.	ENST00000306378.6:c.2407C>G	p.His803Asp	p.H803D	ENST00000306378	NM_182641.3	803	Cat/Gat	0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		23	1.56		HGNC	p.H929D		BPTF		SNV							ENST00000335221	protein_coding	getma.org/?cm=var&var=hg19,17,65889837,C,G&fts=all		hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		H/D		G	low	2846/11292		getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=838&re=1037&var=H929D						BPTF,missense_variant,p.His929Asp,ENST00000321892,;BPTF,missense_variant,p.His929Asp,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.His803Asp,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.His790Asp,ENST00000424123,;BPTF,missense_variant,p.His866Asp,ENST00000544778,;BPTF,downstream_gene_variant,,ENST00000544491,;BPTF,non_coding_transcript_exon_variant,,ENST00000467104,;BPTF,downstream_gene_variant,,ENST00000579173,;							MODERATE	2785/9141	H929D	BPTF_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000315454					1	
FGFR1	0	LGGM	GRCh37	8	38285610	38285610	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	16	2	.	.	ENST00000425967.3:c.543C>A	p.Pro181=	p.P181=	ENST00000425967	NM_001174067.1	181	ccC/ccA	0	1		UPI00000534B8	0		ENST00000447712		ENSG00000077782	3688		18			HGNC	p.P61P		FGFR1		SNV			1				ENST00000356207	protein_coding			PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131		P		T		1392/5900				E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,splice_region_variant,p.=,ENST00000341462,;FGFR1,splice_region_variant,p.=,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,splice_region_variant,p.=,ENST00000397091,;FGFR1,splice_region_variant,p.=,ENST00000532791,;FGFR1,splice_region_variant,p.=,ENST00000425967,NM_001174067.1;FGFR1,splice_region_variant,p.=,ENST00000335922,NM_001174064.1;FGFR1,splice_region_variant,p.=,ENST00000356207,NM_023105.2;FGFR1,splice_region_variant,p.=,ENST00000326324,NM_023106.2;FGFR1,splice_region_variant,p.=,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,splice_region_variant,p.=,ENST00000397103,;FGFR1,splice_region_variant,p.=,ENST00000397108,;FGFR1,splice_region_variant,p.=,ENST00000525001,;FGFR1,splice_region_variant,p.=,ENST00000529552,;FGFR1,splice_region_variant,p.=,ENST00000526742,;FGFR1,splice_region_variant,,ENST00000533668,;FGFR1,splice_region_variant,p.=,ENST00000530568,;FGFR1,downstream_gene_variant,,ENST00000413133,;FGFR1,downstream_gene_variant,,ENST00000434187,;RP11-350N15.4,downstream_gene_variant,,ENST00000528407,;FGFR1,splice_region_variant,,ENST00000527203,;FGFR1,intron_variant,,ENST00000530701,;FGFR1,splice_region_variant,,ENST00000470826,;FGFR1,splice_region_variant,,ENST00000496296,;FGFR1,splice_region_variant,,ENST00000487647,;FGFR1,splice_region_variant,,ENST00000484370,;FGFR1,splice_region_variant,,ENST00000532386,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000474970,;FGFR1,downstream_gene_variant,,ENST00000397090,;FGFR1,upstream_gene_variant,,ENST00000464163,;FGFR1,upstream_gene_variant,,ENST00000475621,;							LOW	450/2469		FGFR1_HUMAN			Transcript			.	ENSP00000400162		CCDS6107.2			1	
TLK1	0	LGGM	GRCh37	2	171853194	171853194	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	13	2	.	.	ENST00000431350.2:c.2093C>G	p.Pro698Arg	p.P698R	ENST00000431350		698	cCt/cGt	0	1	1	UPI0000073255	0	getma.org/pdb.php?prot=TLK1_HUMAN&from=456&to=734&var=P698R	ENST00000431350		ENSG00000198586	11841		15	2.215		HGNC	p.P650R		TLK1		SNV							ENST00000442919	protein_coding	getma.org/?cm=var&var=hg19,2,171853194,G,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF22,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/R		C	medium	2498/5663		getma.org/?cm=msa&ty=f&p=TLK1_HUMAN&rb=456&re=734&var=P698R	deleterious(0)	Q53TF9_HUMAN,Q53TE4_HUMAN			YES	TLK1,missense_variant,p.Pro650Arg,ENST00000442919,NM_012290.4;TLK1,missense_variant,p.Pro719Arg,ENST00000360843,;TLK1,missense_variant,p.Pro698Arg,ENST00000431350,;TLK1,missense_variant,p.Pro650Arg,ENST00000521943,NM_001136554.1;TLK1,missense_variant,p.Pro602Arg,ENST00000434911,NM_001136555.1;TLK1,3_prime_UTR_variant,,ENST00000359766,;TLK1,downstream_gene_variant,,ENST00000409443,;							MODERATE	2093/2301	P698R	TLK1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000411099		CCDS2241.1			1	
SCLY	0	LGGM	GRCh37	2	239006858	239006858	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	3	2	.	.	ENST00000254663.6:c.1224G>T	p.Leu408=	p.L408=	ENST00000254663	NM_016510.5	408	ctG/ctT	0	1	1	UPI0000EE3842	0		ENST00000254663		ENSG00000132330	18161		5			HGNC	p.C241F		SCLY		SNV							ENST00000450965	protein_coding			hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.90.1150.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383		L		T		1366/2562				B4DDP9_HUMAN			YES	SCLY,missense_variant,p.Cys241Phe,ENST00000450965,;SCLY,synonymous_variant,p.=,ENST00000254663,NM_016510.5;SCLY,synonymous_variant,p.=,ENST00000555827,;SCLY,synonymous_variant,p.=,ENST00000429612,;SCLY,synonymous_variant,p.=,ENST00000422984,;SCLY,synonymous_variant,p.=,ENST00000412508,;SCLY,intron_variant,,ENST00000437134,;ESPNL,upstream_gene_variant,,ENST00000343063,NM_194312.2;ESPNL,upstream_gene_variant,,ENST00000409169,;SCLY,downstream_gene_variant,,ENST00000433750,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,downstream_gene_variant,,ENST00000463433,;							LOW	1224/1362		SCLY_HUMAN			Transcript			.	ENSP00000254663		CCDS2524.2			1	
DNAH2	0	LGGM	GRCh37	17	7643208	7643208	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	7	2	.	.	ENST00000572933.1:c.1328G>T	p.Gly443Val	p.G443V	ENST00000572933		443	gGg/gTg	0	1		UPI00005B2F0D	0	NA	ENST00000389173		ENSG00000183914	2948		9	1.245		HGNC	p.G525V		DNAH2		SNV							ENST00000082259	protein_coding	getma.org/?cm=var&var=hg19,17,7643208,G,T&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183		G/V		T	low	1342/13505		getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=397&re=726&var=G443V						DNAH2,missense_variant,p.Gly443Val,ENST00000572933,;DNAH2,missense_variant,p.Gly443Val,ENST00000389173,NM_020877.2;DNAH2,missense_variant,p.Gly525Val,ENST00000570791,;DNAH2,missense_variant,p.Gly525Val,ENST00000082259,;DNAH2,upstream_gene_variant,,ENST00000575498,;							MODERATE	1328/13284	G443V	DYH2_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000373825		CCDS32551.1			1	
HYDIN	0	LGGM	GRCh37	16	70986421	70986421	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	5	2	.	.	ENST00000393567.2:c.6434G>C	p.Ser2145Thr	p.S2145T	ENST00000393567	NM_001270974.1	2145	aGt/aCt	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		7	-0.69		HGNC	p.S2144T		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,70986421,C,G&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		S/T		G	neutral	6585/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2004&re=2203&var=S2145T		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Ser2145Thr,ENST00000393567,NM_001270974.1;HYDIN,intron_variant,,ENST00000309900,;HYDIN,intron_variant,,ENST00000543521,;							MODERATE	6434/15366	S2145T	HYDIN_HUMAN			Transcript		benign(0.001)	.	ENSP00000377197		CCDS59269.1			1	
LDLR	0	LGGM	GRCh37	19	11231161	11231161	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	5	2	.	.	ENST00000558518.1:c.2103C>A	p.Gly701=	p.G701=	ENST00000558518	NM_001195798.1	701	ggC/ggA	0	1	1	UPI00000015DF	0		ENST00000558518		ENSG00000130164	6547		7			HGNC	p.G701G		LDLR		SNV			1				ENST00000558013	protein_coding			hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00181,Superfamily_domains:SSF57184		G		A		2290/3617				Q6LCH2_HUMAN,E1B4S5_HUMAN			YES	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.=,ENST00000455727,NM_001195800.1;LDLR,intron_variant,,ENST00000545707,NM_001195803.1;LDLR,downstream_gene_variant,,ENST00000559340,;							LOW	2103/2583		LDLR_HUMAN			Transcript			.	ENSP00000454071		CCDS12254.1			1	
FOXB1	0	LGGM	GRCh37	15	60297941	60297941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	9	2	.	.	ENST00000396057.4:c.779C>A	p.Pro260His	p.P260H	ENST00000396057	NM_012182.2	260	cCc/cAc	0	1	1	UPI000013EBBD	0	NA	ENST00000396057		ENSG00000171956	3799		11	2.085		HGNC	p.P260H		FOXB1		SNV							ENST00000396057	protein_coding	getma.org/?cm=var&var=hg19,15,60297941,C,A&fts=all		hmmpanther:PTHR11829:SF126,hmmpanther:PTHR11829		P/H		A	medium	1258/1672		getma.org/?cm=msa&ty=f&p=FOXB1_HUMAN&rb=123&re=323&var=P260H	deleterious(0)				YES	FOXB1,missense_variant,p.Pro260His,ENST00000396057,NM_012182.2;FOXB1,intron_variant,,ENST00000560857,;							MODERATE	779/978	P260H	FOXB1_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000379369		CCDS32255.1			1	
FBXL18	0	LGGM	GRCh37	7	5541169	5541169	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	8	2	.	.	ENST00000382368.3:c.731A>G	p.Gln244Arg	p.Q244R	ENST00000382368	NM_024963.4	244	cAg/cGg	0	1	1	UPI000020EA59	0	NA	ENST00000382368		ENSG00000155034	21874		10	0.205		HGNC	p.Q244R		FBXL18		SNV							ENST00000453700	protein_coding	getma.org/?cm=var&var=hg19,7,5541169,T,C&fts=all		hmmpanther:PTHR23125:SF280,hmmpanther:PTHR23125		Q/R		C	neutral	855/3498		getma.org/?cm=msa&ty=f&p=FXL18_HUMAN&rb=76&re=275&var=Q244R	tolerated(0.17)				YES	FBXL18,missense_variant,p.Gln244Arg,ENST00000382368,NM_024963.4;FBXL18,missense_variant,p.Gln244Arg,ENST00000453700,;FBXL18,missense_variant,p.Gln128Arg,ENST00000458142,;FBXL18,missense_variant,p.Gln244Arg,ENST00000415009,;							MODERATE	731/2157	Q244R	FXL18_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000371805		CCDS43546.1			1	
ATP8A1	0	LGGM	GRCh37	4	42592868	42592868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	45	3	.	.	ENST00000381668.5:c.484G>T	p.Gly162Trp	p.G162W	ENST00000381668	NM_006095.2	162	Ggg/Tgg	0	1	1	UPI0000125063	0	getma.org/pdb.php?prot=AT8A1_HUMAN&from=104&to=375&var=G162W	ENST00000381668		ENSG00000124406	13531		48	3.31		HGNC	p.G162W		ATP8A1		SNV							ENST00000381668	protein_coding	getma.org/?cm=var&var=hg19,4,42592868,C,A&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Superfamily_domains:0049471		G/W		A	medium	716/8270		getma.org/?cm=msa&ty=f&p=AT8A1_HUMAN&rb=104&re=375&var=G162W	deleterious(0)	H0YAJ4_HUMAN			YES	ATP8A1,missense_variant,p.Gly162Trp,ENST00000381668,NM_006095.2;ATP8A1,intron_variant,,ENST00000264449,NM_001105529.1;ATP8A1,intron_variant,,ENST00000504024,;ATP8A1,upstream_gene_variant,,ENST00000504510,;							MODERATE	484/3495	G162W	AT8A1_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000371084		CCDS3466.1			1	
SLC44A3	0	LGGM	GRCh37	1	95310835	95310835	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	36	3	.	.	ENST00000271227.6:c.887C>A	p.Ala296Glu	p.A296E	ENST00000271227	NM_001258340.1	296	gCa/gAa	0	1	1	UPI0000206066	0	NA	ENST00000271227		ENSG00000143036	28689		39	1.995		HGNC	p.A296E		SLC44A3		SNV							ENST00000271227	protein_coding	getma.org/?cm=var&var=hg19,1,95310835,C,A&fts=all		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13,Transmembrane_helices:TMhelix		A/E		A	medium	989/2388		getma.org/?cm=msa&ty=f&p=CTL3_HUMAN&rb=286&re=606&var=A296E	deleterious(0)	F8W7F3_HUMAN			YES	SLC44A3,missense_variant,p.Ala296Glu,ENST00000271227,NM_001258340.1,NM_001114106.2,NM_001258341.1;SLC44A3,missense_variant,p.Ala260Glu,ENST00000446120,NM_001258342.1;SLC44A3,missense_variant,p.Ala248Glu,ENST00000467909,NM_152369.4;SLC44A3,missense_variant,p.Ala264Glu,ENST00000529450,;SLC44A3,missense_variant,p.Ala228Glu,ENST00000527077,NM_001258343.1;SLC44A3,missense_variant,p.Ala216Glu,ENST00000532427,;RP11-465K1.2,intron_variant,,ENST00000422162,;SLC44A3,splice_region_variant,,ENST00000530397,;SLC44A3,splice_region_variant,,ENST00000475883,;RP11-465K1.2,intron_variant,,ENST00000532087,;							MODERATE	887/1962	A296E	CTL3_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000271227		CCDS44176.1			1	
NDRG4	0	LGGM	GRCh37	16	58545398	58545400	+	inframe_deletion	In_Frame_Del	DEL	GCA	GCA	-	novel	by Submitter	H072992	H072992N.bam	GCA	GCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	5	3	.	.	ENST00000394282.4:c.1096_1098del	p.Ser366del	p.S366del	ENST00000394282	NM_001130487.1	365	gGCAgc/ggc	0	1		UPI000012FEE0	0		ENST00000570248		ENSG00000103034	14466		8			HGNC	p.331_332del		NDRG4		deletion							ENST00000563799	protein_coding			hmmpanther:PTHR11034,hmmpanther:PTHR11034:SF21		GS/G		-		1083-1085/3207				H3BUK1_HUMAN,H3BU25_HUMAN,H3BST8_HUMAN,H3BSC3_HUMAN,H3BM83_HUMAN,B3KX54_HUMAN				NDRG4,inframe_deletion,p.Ser366del,ENST00000394282,NM_001130487.1;NDRG4,inframe_deletion,p.Ser346del,ENST00000394279,NM_022910.3;NDRG4,inframe_deletion,p.Ser346del,ENST00000258187,NM_020465.3;NDRG4,inframe_deletion,p.Ser314del,ENST00000566192,NM_001242836.1,NM_001242834.1;NDRG4,inframe_deletion,p.Ser327del,ENST00000570248,NM_001242835.1;NDRG4,inframe_deletion,p.Ser332del,ENST00000563799,;NDRG4,inframe_deletion,p.Ser302del,ENST00000562999,;NDRG4,inframe_deletion,p.Ser344del,ENST00000356752,NM_001242833.1;NDRG4,inframe_deletion,p.Ser259del,ENST00000569923,;NDRG4,inframe_deletion,p.Ser332del,ENST00000568640,;NDRG4,3_prime_UTR_variant,,ENST00000569026,;NDRG4,intron_variant,,ENST00000569408,;SETD6,upstream_gene_variant,,ENST00000394266,;SETD6,upstream_gene_variant,,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,upstream_gene_variant,,ENST00000219315,;NDRG4,downstream_gene_variant,,ENST00000569539,;NDRG4,downstream_gene_variant,,ENST00000566618,;SETD6,upstream_gene_variant,,ENST00000447443,;NDRG4,downstream_gene_variant,,ENST00000561738,;SETD6,upstream_gene_variant,,ENST00000418480,;NDRG4,downstream_gene_variant,,ENST00000562725,;NDRG4,non_coding_transcript_exon_variant,,ENST00000421602,;NDRG4,non_coding_transcript_exon_variant,,ENST00000563209,;NDRG4,non_coding_transcript_exon_variant,,ENST00000566265,;NDRG4,non_coding_transcript_exon_variant,,ENST00000561681,;NDRG4,intron_variant,,ENST00000565981,;SETD6,upstream_gene_variant,,ENST00000427443,;SETD6,upstream_gene_variant,,ENST00000422445,;SETD6,upstream_gene_variant,,ENST00000467320,;NDRG4,downstream_gene_variant,,ENST00000561720,;SETD6,upstream_gene_variant,,ENST00000492050,;SETD6,upstream_gene_variant,,ENST00000470003,;NDRG4,downstream_gene_variant,,ENST00000561730,;NDRG4,downstream_gene_variant,,ENST00000568005,;SETD6,upstream_gene_variant,,ENST00000468223,;NDRG4,downstream_gene_variant,,ENST00000566061,;NDRG4,downstream_gene_variant,,ENST00000562350,;							MODERATE	977-979/1059		NDRG4_HUMAN			Transcript	2		.	ENSP00000457659		CCDS58466.1			1	
ACKR4	0	LGGM	GRCh37	3	132319950	132319950	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	45	3	.	.	ENST00000249887.2:c.709C>A	p.Arg237=	p.R237=	ENST00000249887	NM_016557.3	237	Cga/Aga	0	1	1	UPI0000039DBA	0		ENST00000249887		ENSG00000129048	1611		48			HGNC	p.R237R		ACKR4		SNV							ENST00000249887	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF35,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		R		A		805/1914				H0Y9Z2_HUMAN			YES	ACKR4,synonymous_variant,p.=,ENST00000249887,NM_016557.3,NM_178445.2;ACAD11,intron_variant,,ENST00000264990,NM_032169.4;ACAD11,intron_variant,,ENST00000355458,;ACAD11,intron_variant,,ENST00000545291,;ACAD11,intron_variant,,ENST00000507705,;NPHP3,intron_variant,,ENST00000471702,;ACAD11,intron_variant,,ENST00000496418,;ACAD11,intron_variant,,ENST00000469042,;ACAD11,intron_variant,,ENST00000485198,;ACAD11,intron_variant,,ENST00000487024,;ACAD11,intron_variant,,ENST00000477604,;ACAD11,intron_variant,,ENST00000510100,;ACKR4,upstream_gene_variant,,ENST00000509820,;							LOW	709/1053		ACKR4_HUMAN			Transcript			.	ENSP00000249887		CCDS3075.1			1	
MYO3A	0	LGGM	GRCh37	10	26436476	26436476	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	24	3	.	.	ENST00000265944.5:c.2623C>T	p.Leu875=	p.L875=	ENST00000265944	NM_017433.4	875	Ctg/Ttg	0	1	1	UPI000014140A	0		ENST00000265944		ENSG00000095777	7601		27			HGNC	p.L875L		MYO3A		SNV			1				ENST00000265944	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		L		T		2789/5581							YES	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;							LOW	2623/4851		MYO3A_HUMAN			Transcript			.	ENSP00000265944		CCDS7148.1			1	
BUB3	0	LGGM	GRCh37	10	124922284	124922284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	33	3	.	.	ENST00000368865.4:c.911C>A	p.Thr304Lys	p.T304K	ENST00000368865	NM_004725.3	304	aCa/aAa	0	1	1	UPI0000126B30	0	NA	ENST00000368865		ENSG00000154473	1151		36	-1.225		HGNC	p.T224K		BUB3		SNV			1				ENST00000538238	protein_coding	getma.org/?cm=var&var=hg19,10,124922284,C,A&fts=all		hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF5,Gene3D:2.130.10.10		T/K		A	neutral	1120/2731		getma.org/?cm=msa&ty=f&p=BUB3_HUMAN&rb=263&re=328&var=T304K	tolerated(0.99)	J3QT28_HUMAN,B4DDM6_HUMAN			YES	BUB3,missense_variant,p.Thr304Lys,ENST00000368865,NM_004725.3;BUB3,missense_variant,p.Thr304Lys,ENST00000368858,NM_001007793.2;BUB3,missense_variant,p.Thr224Lys,ENST00000538238,;BUB3,intron_variant,,ENST00000368859,;BUB3,downstream_gene_variant,,ENST00000407911,;BUB3,non_coding_transcript_exon_variant,,ENST00000481952,;							MODERATE	911/987	T304K	BUB3_HUMAN			Transcript		benign(0)	.	ENSP00000357858		CCDS7635.1			1	
DEAF1	0	LGGM	GRCh37	11	644644	644644	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	2	3	.	.	ENST00000382409.3:c.1604A>G	p.Asp535Gly	p.D535G	ENST00000382409	NM_021008.2	535	gAt/gGt	0	1	1	UPI00001290E6	0	getma.org/pdb.php?prot=DEAF1_HUMAN&from=504&to=540&var=D535G	ENST00000382409		ENSG00000177030	14677		5	0.495		HGNC	p.D535G		DEAF1		SNV			1				ENST00000382409	protein_coding	getma.org/?cm=var&var=hg19,11,644644,T,C&fts=all		PROSITE_profiles:PS50865,hmmpanther:PTHR10237,PROSITE_patterns:PS01360,Pfam_domain:PF01753,Superfamily_domains:SSF144232		D/G		C	neutral	2089/2500		getma.org/?cm=msa&ty=f&p=DEAF1_HUMAN&rb=504&re=540&var=D535G	deleterious(0.04)				YES	DEAF1,missense_variant,p.Asp535Gly,ENST00000382409,NM_021008.2;DEAF1,missense_variant,p.Asp460Gly,ENST00000338675,;DRD4,downstream_gene_variant,,ENST00000176183,NM_000797.3;DEAF1,non_coding_transcript_exon_variant,,ENST00000527658,;DRD4,downstream_gene_variant,,ENST00000528733,;DEAF1,3_prime_UTR_variant,,ENST00000527170,;							MODERATE	1604/1698	D535G	DEAF1_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000371846		CCDS31327.1			1	
KCNK5	0	LGGM	GRCh37	6	39159377	39159377	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	45	3	.	.	ENST00000359534.3:c.789G>T	p.Arg263=	p.R263=	ENST00000359534	NM_003740.3	263	cgG/cgT	0	1	1	UPI000003AFB5	0		ENST00000359534		ENSG00000164626	6280		48			HGNC	p.R263R		KCNK5		SNV							ENST00000359534	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22,Superfamily_domains:SSF81324		R		A		1128/3756							YES	KCNK5,synonymous_variant,p.=,ENST00000359534,NM_003740.3;							LOW	789/1500		KCNK5_HUMAN			Transcript			.	ENSP00000352527		CCDS4841.1			1	
ACN9	0	LGGM	GRCh37	7	96747039	96747039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	21	3	.	.	ENST00000432641.2:c.4C>T	p.Pro2Ser	p.P2S	ENST00000432641	NM_020186.2	2	Ccg/Tcg	0	1	1	UPI000007346E	0	NA	ENST00000432641		ENSG00000196636	21752		24	0.095		HGNC	p.P2S	rs753447011	ACN9		SNV							ENST00000360382	protein_coding	getma.org/?cm=var&var=hg19,7,96747039,C,T&fts=all		hmmpanther:PTHR13137,hmmpanther:PTHR13137:SF6		P/S		T	neutral	1138/2060	1.53E-05	getma.org/?cm=msa&ty=f&p=ACN9_HUMAN&rb=1&re=33&var=P2S	tolerated(0.36)				YES	ACN9,missense_variant,p.Pro2Ser,ENST00000432641,NM_020186.2;ACN9,missense_variant,p.Pro2Ser,ENST00000360382,;ACN9,non_coding_transcript_exon_variant,,ENST00000489852,;							MODERATE	4/378	P2S	ACN9_HUMAN			Transcript		benign(0.008)	.	ENSP00000414066	8.24E-06	CCDS5648.1			1	
RP11-385D13.1	0	LGGM	GRCh37	17	15517301	15517301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	43	3	.	.	ENST00000395906.3:c.717G>T	p.Arg239Ser	p.R239S	ENST00000395906	NM_006382.3	239	agG/agT	0	1		UPI000268AF94	0	NA	ENST00000455584		ENSG00000251537			46	1.7		Clone_based_vega_gene	p.R549S		RP11-385D13.1		SNV							ENST00000455584	protein_coding	getma.org/?cm=var&var=hg19,17,15517301,C,A&fts=all		hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7		R/S		A	low	1691/5514		getma.org/?cm=msa&ty=f&p=CDRT1_HUMAN&rb=201&re=400&var=R239S	tolerated_low_confidence(0.08)	H0Y626_HUMAN,J3QKY5_HUMAN			YES	RP11-385D13.1,missense_variant,p.Arg549Ser,ENST00000455584,;CDRT1,missense_variant,p.Arg239Ser,ENST00000395906,NM_006382.3;CDRT1,missense_variant,p.Arg33Ser,ENST00000261644,;							MODERATE	1647/2862	R239S				Transcript		benign(0.058)	.	ENSP00000402644					1	
ACVRL1	0	LGGM	GRCh37	12	52306304	52306304	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	25	3	.	.	ENST00000388922.4:c.46G>T	p.Ala16Ser	p.A16S	ENST00000388922	NM_000020.2	16	Gcc/Tcc	0	1	1	UPI000000D9F4	0	NA	ENST00000388922		ENSG00000139567	175		28	0		HGNC	p.A30S		ACVRL1		SNV			1				ENST00000547400	protein_coding	getma.org/?cm=var&var=hg19,12,52306304,G,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM		A/S		T	neutral	329/1971		getma.org/?cm=msa&ty=f&p=ACVL1_HUMAN&rb=1&re=31&var=A16S	tolerated(0.19)	D9IPD9_HUMAN,B4DUF0_HUMAN			YES	ACVRL1,missense_variant,p.Ala30Ser,ENST00000550683,NM_001077401.1;ACVRL1,missense_variant,p.Ala16Ser,ENST00000388922,NM_000020.2;ACVRL1,missense_variant,p.Ala30Ser,ENST00000419526,;ACVRL1,missense_variant,p.Ala30Ser,ENST00000547400,;ACVRL1,missense_variant,p.Ala16Ser,ENST00000551576,;ACVRL1,upstream_gene_variant,,ENST00000552678,;ACVRL1,upstream_gene_variant,,ENST00000547632,;							MODERATE	46/1512	A16S	ACVL1_HUMAN			Transcript		benign(0.061)	.	ENSP00000373574		CCDS31804.1			1	
SASH1	0	LGGM	GRCh37	6	148869537	148869537	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	56	4	.	.	ENST00000367467.3:c.3587G>A	p.Gly1196Asp	p.G1196D	ENST00000367467	NM_015278.3	1196	gGc/gAc	0	1	1	UPI00003519AE	0	getma.org/pdb.php?prot=SASH1_HUMAN&from=1174&to=1239&var=G1196D	ENST00000367467		ENSG00000111961	19182		60	-0.55		HGNC	p.G1196D		SASH1		SNV							ENST00000367467	protein_coding	getma.org/?cm=var&var=hg19,6,148869537,G,A&fts=all		Gene3D:1.10.150.50,Pfam_domain:PF07647,PROSITE_profiles:PS50105,hmmpanther:PTHR12301,hmmpanther:PTHR12301:SF3,SMART_domains:SM00454,Superfamily_domains:SSF47769		G/D		A	neutral	4062/7711		getma.org/?cm=msa&ty=f&p=SASH1_HUMAN&rb=1174&re=1239&var=G1196D	deleterious_low_confidence(0.04)				YES	SASH1,missense_variant,p.Gly1196Asp,ENST00000367467,NM_015278.3;							MODERATE	3587/3744	G1196D	SASH1_HUMAN			Transcript		benign(0.122)	.	ENSP00000356437		CCDS5212.1			1	
FBXL5	0	LGGM	GRCh37	4	15628543	15628543	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	9	4	.	.	ENST00000341285.3:c.1077G>T	p.Glu359Asp	p.E359D	ENST00000341285	NM_001193534.1	359	gaG/gaT	0	1	1	UPI0000035C83	0	NA	ENST00000341285		ENSG00000118564	13602		13	1.59		HGNC	p.E342D		FBXL5		SNV							ENST00000412094	protein_coding	getma.org/?cm=var&var=hg19,4,15628543,C,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF211,SMART_domains:SM00367,Superfamily_domains:SSF52047		E/D		A	low	1202/3385		getma.org/?cm=msa&ty=f&p=FBXL5_HUMAN&rb=251&re=381&var=E359D	tolerated(0.06)	D6RHC3_HUMAN,D6RCR7_HUMAN,D6RBW7_HUMAN,D6RB50_HUMAN			YES	FBXL5,missense_variant,p.Glu359Asp,ENST00000341285,NM_001193534.1,NM_012161.3,NM_001193535.1;FBXL5,missense_variant,p.Glu233Asp,ENST00000382358,;FBXL5,missense_variant,p.Glu342Asp,ENST00000412094,;FBXL5,missense_variant,p.Glu280Asp,ENST00000513163,;FBXL5,3_prime_UTR_variant,,ENST00000511441,;FBXL5,non_coding_transcript_exon_variant,,ENST00000507700,;							MODERATE	1077/2076	E359D	FBXL5_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000344866		CCDS3415.1			1	
CHST11	0	LGGM	GRCh37	12	105150791	105150791	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	21	4	.	.	ENST00000303694.5:c.269G>A	p.Arg90Gln	p.R90Q	ENST00000303694	NM_018413.5	90	cGa/cAa	0	1	1	UPI000004A091	0	NA	ENST00000303694		ENSG00000171310	17422		25	1.67		HGNC	p.R90Q	rs749545581,COSM3455371	CHST11		SNV						0,1	ENST00000303694	protein_coding	getma.org/?cm=var&var=hg19,12,105150791,G,A&fts=all		hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF32		R/Q		A	low	708/5709	0.000124	getma.org/?cm=msa&ty=f&p=CHSTB_HUMAN&rb=1&re=107&var=R90Q	tolerated(0.41)	F8VXK3_HUMAN			YES	CHST11,missense_variant,p.Arg90Gln,ENST00000303694,NM_018413.5;CHST11,missense_variant,p.Arg85Gln,ENST00000549260,NM_001173982.1;CHST11,missense_variant,p.Arg50Gln,ENST00000549016,;					0,1		MODERATE	269/1059	R90Q	CHSTB_HUMAN			Transcript		benign(0.098)	.	ENSP00000305725	6.59E-05	CCDS9099.1			1	
NPHS1	0	LGGM	GRCh37	19	36330257	36330257	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	63	4	.	.	ENST00000378910.5:c.2991C>A	p.Thr997=	p.T997=	ENST00000378910	NM_004646.3	997	acC/acA	0	1	1	UPI000004EF61	0		ENST00000378910		ENSG00000161270	7908		67			HGNC	p.T997T		NPHS1		SNV			1				ENST00000353632	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31,SMART_domains:SM00060,Superfamily_domains:SSF49265		T		T		2991/4276							YES	NPHS1,synonymous_variant,p.=,ENST00000378910,NM_004646.3;NPHS1,synonymous_variant,p.=,ENST00000353632,;NPHS1,downstream_gene_variant,,ENST00000585400,;							LOW	2991/3726		NPHN_HUMAN			Transcript			.	ENSP00000368190		CCDS32996.1			1	
ZNF318	0	LGGM	GRCh37	6	43306797	43306797	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	72	4	.	.	ENST00000361428.2:c.4939G>T	p.Ala1647Ser	p.A1647S	ENST00000361428	NM_014345.2	1647	Gca/Tca	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578		76	-0.11		HGNC	p.A1647S		ZNF318		SNV							ENST00000361428	protein_coding	getma.org/?cm=var&var=hg19,6,43306797,C,A&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		A/S		A	neutral	5017/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1590&re=1789&var=A1647S					YES	ZNF318,missense_variant,p.Ala1647Ser,ENST00000361428,NM_014345.2;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000605935,;							MODERATE	4939/6840	A1647S	ZN318_HUMAN			Transcript		benign(0.014)	.	ENSP00000354964		CCDS4895.2			1	
C5orf34	0	LGGM	GRCh37	5	43488033	43488033	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	6	4	.	.	ENST00000306862.2:c.1698T>C	p.Leu566=	p.L566=	ENST00000306862	NM_198566.2	566	ctT/ctC	0	1	1	UPI000013EB9E	0		ENST00000306862		ENSG00000172244	24738		10			HGNC	p.L566L		C5orf34		SNV							ENST00000306862	protein_coding					L		G		2074/2507				E9PBC3_HUMAN,B4E0D7_HUMAN			YES	C5orf34,synonymous_variant,p.=,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,;							LOW	1698/1917		CE034_HUMAN			Transcript			.	ENSP00000303490		CCDS3946.1			1	
GMPR	0	LGGM	GRCh37	6	16279017	16279017	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	19	5	.	.	ENST00000259727.4:c.550T>C	p.Ser184Pro	p.S184P	ENST00000259727	NM_006877.3	184	Tct/Cct	0	1	1	UPI000012B8B2	0	getma.org/pdb.php?prot=GMPR1_HUMAN&from=8&to=344&var=S184P	ENST00000259727		ENSG00000137198	4376		24	4.685		HGNC	p.S184P		GMPR		SNV							ENST00000259727	protein_coding	getma.org/?cm=var&var=hg19,6,16279017,T,C&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF00478,PIRSF_domain:PIRSF000235,PROSITE_patterns:PS00487,hmmpanther:PTHR11911,hmmpanther:PTHR11911:SF61,Superfamily_domains:SSF51412,TIGRFAM_domain:TIGR01305		S/P		C	high	664/1515		getma.org/?cm=msa&ty=f&p=GMPR1_HUMAN&rb=8&re=344&var=S184P	deleterious(0)				YES	GMPR,missense_variant,p.Ser184Pro,ENST00000259727,NM_006877.3;GMPR,intron_variant,,ENST00000543191,;							MODERATE	550/1038	S184P	GMPR1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000259727		CCDS4537.1			1	
MIB2	0	LGGM	GRCh37	1	1559291	1559291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	8	5	.	.	ENST00000505820.2:c.730G>T	p.Ala244Ser	p.A244S	ENST00000505820		244	Gcc/Tcc	0	1	1	UPI0001C0B37A	0	NA	ENST00000505820		ENSG00000197530	30577		13	0.205		HGNC	p.A244S		MIB2		SNV							ENST00000505820	protein_coding	getma.org/?cm=var&var=hg19,1,1559291,G,T&fts=all		PROSITE_profiles:PS50135,hmmpanther:PTHR24202:SF4,hmmpanther:PTHR24202,SMART_domains:SM00291,Superfamily_domains:SSF57850		A/S		T	neutral	747/3305		getma.org/?cm=msa&ty=f&p=MIB2_HUMAN&rb=187&re=217&var=A187S	tolerated(0.43)	E9PD12_HUMAN,D6RFJ2_HUMAN,D6RE96_HUMAN			YES	MIB2,missense_variant,p.Ala187Ser,ENST00000357210,NM_080875.2;MIB2,missense_variant,p.Ala244Ser,ENST00000520777,NM_001170686.1;MIB2,missense_variant,p.Ala143Ser,ENST00000504599,;MIB2,missense_variant,p.Ala244Ser,ENST00000505820,;MIB2,missense_variant,p.Ala230Ser,ENST00000355826,NM_001170687.1;MIB2,missense_variant,p.Ala187Ser,ENST00000360522,;MIB2,missense_variant,p.Ala187Ser,ENST00000378710,;MIB2,missense_variant,p.Ala244Ser,ENST00000518681,NM_001170688.1;MIB2,missense_variant,p.Ala129Ser,ENST00000378708,;MIB2,missense_variant,p.Ala129Ser,ENST00000378712,NM_001170689.1;MIB2,missense_variant,p.Ala38Ser,ENST00000514234,;MIB2,missense_variant,p.Ala129Ser,ENST00000510793,;MIB2,missense_variant,p.Ala129Ser,ENST00000503789,;MIB2,upstream_gene_variant,,ENST00000483015,;MIB2,non_coding_transcript_exon_variant,,ENST00000512004,;MIB2,missense_variant,p.Ala143Ser,ENST00000487053,;MIB2,missense_variant,p.Ala129Ser,ENST00000506488,;MIB2,synonymous_variant,p.=,ENST00000489635,;MIB2,synonymous_variant,p.=,ENST00000514363,;MIB2,3_prime_UTR_variant,,ENST00000502470,;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,,ENST00000508455,;MIB2,downstream_gene_variant,,ENST00000477990,;MIB2,upstream_gene_variant,,ENST00000473511,;MIB2,upstream_gene_variant,,ENST00000464570,;MIB2,upstream_gene_variant,,ENST00000505370,;MIB2,upstream_gene_variant,,ENST00000467597,;MIB2,upstream_gene_variant,,ENST00000508148,;MIB2,upstream_gene_variant,,ENST00000486072,;							MODERATE	730/3213	A187S	MIB2_HUMAN			Transcript		benign(0.326)	.	ENSP00000426103		CCDS41224.2			1	
INPP4B	0	LGGM	GRCh37	4	143044566	143044566	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	20	5	.	.	ENST00000262992.4:c.1896T>C	p.Leu632=	p.L632=	ENST00000262992	NM_001101669.1	632	ctT/ctC	0	1		UPI000013D37A	0		ENST00000262992		ENSG00000109452	6075		25			HGNC	p.L632L		INPP4B		SNV							ENST00000510812	protein_coding			hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187		L		G		2113/3741				E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN				INPP4B,splice_region_variant,p.=,ENST00000513000,NM_003866.2;INPP4B,splice_region_variant,p.=,ENST00000509777,;INPP4B,splice_region_variant,p.=,ENST00000262992,NM_001101669.1;INPP4B,splice_region_variant,p.=,ENST00000508116,;INPP4B,splice_region_variant,p.=,ENST00000308502,;INPP4B,splice_region_variant,p.=,ENST00000510812,;INPP4B,splice_region_variant,p.=,ENST00000511838,;INPP4B,splice_region_variant,p.=,ENST00000514525,;INPP4B,splice_region_variant,,ENST00000512630,;							LOW	1896/2775		INP4B_HUMAN			Transcript			.	ENSP00000262992		CCDS3757.1			1	
FGD3	0	LGGM	GRCh37	9	95738674	95738674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	4	6	.	.	ENST00000375482.3:c.136C>T	p.Pro46Ser	p.P46S	ENST00000375482	NM_001083536.1	46	Cct/Tct	0	1		UPI0000199249	0	NA	ENST00000337352		ENSG00000127084	16027		10	1.7		HGNC	p.P46S		FGD3		SNV							ENST00000467786	protein_coding	getma.org/?cm=var&var=hg19,9,95738674,C,T&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF14		P/S		T	low	618/3303		getma.org/?cm=msa&ty=f&p=FGD3_HUMAN&rb=1&re=160&var=P46S	tolerated_low_confidence(0.17)	B4DXH4_HUMAN				FGD3,missense_variant,p.Pro46Ser,ENST00000375482,NM_001083536.1;FGD3,missense_variant,p.Pro46Ser,ENST00000337352,NM_033086.2;FGD3,missense_variant,p.Pro46Ser,ENST00000416701,NM_001286993.1;FGD3,non_coding_transcript_exon_variant,,ENST00000468206,;FGD3,non_coding_transcript_exon_variant,,ENST00000494669,;FGD3,missense_variant,p.Pro46Ser,ENST00000467786,;							MODERATE	136/2178	P46S	FGD3_HUMAN			Transcript		benign(0.08)	.	ENSP00000336914		CCDS43849.1			1	
GCDH	0	LGGM	GRCh37	19	13007125	13007125	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	13	6	.	.	ENST00000222214.5:c.742C>T	p.Pro248Ser	p.P248S	ENST00000222214	NM_000159.3	248	Ccc/Tcc	0	1	1	UPI000012B292	0	getma.org/pdb.php?prot=GCDH_HUMAN&from=231&to=286&var=P248S	ENST00000222214		ENSG00000105607	4189		19	2.13		HGNC	p.P248S	rs765635270	GCDH	6.06E-05	SNV			1				ENST00000591470	protein_coding	getma.org/?cm=var&var=hg19,19,13007125,C,T&fts=all		Gene3D:2.40.110.10,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF152,Superfamily_domains:SSF56645		P/S		T	medium	953/1956		getma.org/?cm=msa&ty=f&p=GCDH_HUMAN&rb=231&re=286&var=P248S	deleterious_low_confidence(0.02)				YES	GCDH,missense_variant,p.Pro248Ser,ENST00000222214,NM_000159.3;GCDH,missense_variant,p.Pro204Ser,ENST00000422947,;GCDH,missense_variant,p.Pro248Ser,ENST00000591470,;GCDH,missense_variant,p.Pro248Ser,ENST00000457854,NM_013976.3;SYCE2,downstream_gene_variant,,ENST00000293695,NM_001105578.1;GCDH,downstream_gene_variant,,ENST00000588905,;GCDH,upstream_gene_variant,,ENST00000590472,;GCDH,downstream_gene_variant,,ENST00000589039,;SYCE2,downstream_gene_variant,,ENST00000592819,;GCDH,downstream_gene_variant,,ENST00000587072,;GCDH,upstream_gene_variant,,ENST00000591050,;GCDH,upstream_gene_variant,,ENST00000588242,;GCDH,3_prime_UTR_variant,,ENST00000590530,;GCDH,non_coding_transcript_exon_variant,,ENST00000591043,;GCDH,non_coding_transcript_exon_variant,,ENST00000585420,;GCDH,non_coding_transcript_exon_variant,,ENST00000421816,;GCDH,downstream_gene_variant,,ENST00000590627,;GCDH,downstream_gene_variant,,ENST00000587832,;GCDH,downstream_gene_variant,,ENST00000590445,;GCDH,downstream_gene_variant,,ENST00000585760,;AD000092.3,downstream_gene_variant,,ENST00000464444,;							MODERATE	742/1317	P248S	GCDH_HUMAN			Transcript		possibly_damaging(0.581)	.	ENSP00000222214	8.24E-06	CCDS12286.1			1	
CDH24	0	LGGM	GRCh37	14	23517470	23517470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	8	6	.	.	ENST00000397359.3:c.2179C>T	p.Arg727Trp	p.R727W	ENST00000397359	NM_022478.3	727	Cgg/Tgg	0	1		UPI0000190F86	0	getma.org/pdb.php?prot=CAD24_HUMAN&from=663&to=814&var=R727W	ENST00000267383		ENSG00000139880	14265		14	1.47		HGNC	p.R689W		CDH24		SNV							ENST00000487137	protein_coding	getma.org/?cm=var&var=hg19,14,23517470,G,A&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF272		R/W		A	low	2272/2873		getma.org/?cm=msa&ty=f&p=CAD24_HUMAN&rb=663&re=814&var=R727W	tolerated(0.18)	Q86TS8_HUMAN,Q4VBZ5_HUMAN				CDH24,missense_variant,p.Arg727Trp,ENST00000397359,NM_022478.3;CDH24,missense_variant,p.Arg689Trp,ENST00000487137,NM_144985.3;CDH24,missense_variant,p.Arg727Trp,ENST00000267383,;CDH24,missense_variant,p.Arg689Trp,ENST00000554034,;PSMB11,downstream_gene_variant,,ENST00000408907,NM_001099780.1;CDH24,non_coding_transcript_exon_variant,,ENST00000485922,;							MODERATE	2179/2460	R727W	CAD24_HUMAN			Transcript		possibly_damaging(0.625)	.	ENSP00000267383		CCDS9585.1			1	
UBN2	0	LGGM	GRCh37	7	138958693	138958693	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	34	6	.	.	ENST00000473989.3:c.1846C>G	p.Leu616Val	p.L616V	ENST00000473989	NM_173569.3	616	Ctt/Gtt	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		40	0.885		HGNC	p.L616V		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138958693,C,G&fts=all		Pfam_domain:PF14075,hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		L/V		G	low	1846/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=448&re=664&var=L616V	tolerated(0.43)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Leu616Val,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Leu533Val,ENST00000288561,;UBN2,missense_variant,p.Leu385Val,ENST00000483726,;							MODERATE	1846/4044	L616V	UBN2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000418648		CCDS43655.2			1	
PCDHGA5	0	LGGM	GRCh37	5	140744995	140744995	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	16	7	.	.	ENST00000518069.1:c.1098C>A	p.Ile366=	p.I366=	ENST00000518069	NM_018918.2	366	atC/atA	0	1	1	UPI000006CD9F	0		ENST00000518069		ENSG00000253485	8703		23			HGNC	p.I366I		PCDHGA5		SNV							ENST00000518069	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Superfamily_domains:SSF49313		I		A		1098/4602				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA5,synonymous_variant,p.=,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;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;PCDHGB3,upstream_gene_variant,,ENST00000576222,NM_018924.2,NM_032097.1;							LOW	1098/2796		PCDG5_HUMAN			Transcript			.	ENSP00000429834		CCDS54925.1			1	
OSBPL8	0	LGGM	GRCh37	12	76788448	76788448	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	20	7	.	.	ENST00000261183.3:c.734T>A	p.Ile245Asn	p.I245N	ENST00000261183	NM_020841.4	245	aTc/aAc	0	1	1	UPI000006ECD1	0	getma.org/pdb.php?prot=OSBL8_HUMAN&from=149&to=265&var=I245N	ENST00000261183		ENSG00000091039	16396		27	0.345		HGNC	p.I245N		OSBPL8		SNV							ENST00000547540	protein_coding	getma.org/?cm=var&var=hg19,12,76788448,A,T&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF77,PROSITE_profiles:PS50003		I/N		T	neutral	1214/7239		getma.org/?cm=msa&ty=f&p=OSBL8_HUMAN&rb=149&re=265&var=I245N	deleterious(0)	Q96E43_HUMAN,Q6ZME5_HUMAN,F8VZB8_HUMAN,F8VVE7_HUMAN,F8VVD3_HUMAN,F8VQX7_HUMAN			YES	OSBPL8,missense_variant,p.Ile245Asn,ENST00000261183,NM_020841.4;OSBPL8,missense_variant,p.Ile203Asn,ENST00000393249,;OSBPL8,missense_variant,p.Ile203Asn,ENST00000393250,NM_001003712.1;OSBPL8,missense_variant,p.Ile220Asn,ENST00000546946,;OSBPL8,missense_variant,p.Ile245Asn,ENST00000547540,;OSBPL8,downstream_gene_variant,,ENST00000548341,;OSBPL8,non_coding_transcript_exon_variant,,ENST00000550865,;OSBPL8,upstream_gene_variant,,ENST00000548535,;							MODERATE	734/2670	I245N	OSBL8_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000261183		CCDS31862.1			1	
MFN2	0	LGGM	GRCh37	1	12056347	12056347	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	14	7	.	.	ENST00000235329.5:c.446A>G	p.Glu149Gly	p.E149G	ENST00000235329	NM_014874.3	149	gAg/gGg	0	1	1	UPI0000039854	0	NA	ENST00000235329		ENSG00000116688	16877		21	1.745		HGNC	p.E149G		MFN2		SNV			1				ENST00000444836	protein_coding	getma.org/?cm=var&var=hg19,1,12056347,A,G&fts=all		PROSITE_profiles:PS51718,hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF1,Pfam_domain:PF00350,Superfamily_domains:SSF52540		E/G		G	low	768/4539		getma.org/?cm=msa&ty=f&p=MFN2_HUMAN&rb=99&re=259&var=E149G	deleterious(0.04)	Q5JXC5_HUMAN			YES	MFN2,missense_variant,p.Glu149Gly,ENST00000235329,NM_014874.3;MFN2,missense_variant,p.Glu149Gly,ENST00000444836,NM_001127660.1;MFN2,downstream_gene_variant,,ENST00000412236,;MFN2,downstream_gene_variant,,ENST00000497302,;							MODERATE	446/2274	E149G	MFN2_HUMAN			Transcript		benign(0.002)	.	ENSP00000235329		CCDS30587.1			1	
GLOD5	0	LGGM	GRCh37	X	48631727	48631727	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	40	7	.	.	ENST00000303227.6:c.359C>T	p.Ala120Val	p.A120V	ENST00000303227	NM_001080489.2	120	gCt/gTt	0	1	1	UPI00003D5F30	0	getma.org/pdb.php?prot=GLOD5_HUMAN&from=31&to=143&var=A108V	ENST00000303227		ENSG00000171433	33358		47	1.99		HGNC	p.A120V	rs782500945	GLOD5	9.90E-05	SNV							ENST00000303227	protein_coding	getma.org/?cm=var&var=hg19,X,48631727,C,T&fts=all	T:0	Superfamily_domains:SSF54593,Gene3D:3.10.180.10,Pfam_domain:PF12681,hmmpanther:PTHR21366,hmmpanther:PTHR21366:SF0		A/V		T	medium	400/735		getma.org/?cm=msa&ty=f&p=GLOD5_HUMAN&rb=31&re=143&var=A108V	tolerated(0.06)		T:0	T:0	YES	GLOD5,missense_variant,p.Ala120Val,ENST00000303227,NM_001080489.2;GLOD5,missense_variant,p.Ala87Val,ENST00000445229,;RNU6-29P,downstream_gene_variant,,ENST00000384637,;GLOD5,splice_region_variant,,ENST00000470676,;AC115617.2,downstream_gene_variant,,ENST00000419045,;		T:0.0003					MODERATE	359/483	A108V	GLOD5_HUMAN		T:0	Transcript		benign(0.001)	.	ENSP00000302552	8.28E-06	CCDS55410.1		T:0.001	1	
TYRO3	0	LGGM	GRCh37	15	41860425	41860425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	12	7	.	.	ENST00000263798.3:c.972C>A	p.Ser324Arg	p.S324R	ENST00000263798	NM_006293.3	324	agC/agA	0	1	1	UPI000013788A	0	NA	ENST00000263798		ENSG00000092445	12446		19	0.805		HGNC	p.S279R		TYRO3		SNV							ENST00000559066	protein_coding	getma.org/?cm=var&var=hg19,15,41860425,C,A&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		S/R		A	low	1196/3949		getma.org/?cm=msa&ty=f&p=TYRO3_HUMAN&rb=324&re=406&var=S324R	tolerated(0.26)	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN			YES	TYRO3,missense_variant,p.Ser324Arg,ENST00000263798,NM_006293.3;TYRO3,missense_variant,p.Ser279Arg,ENST00000559066,;TYRO3,upstream_gene_variant,,ENST00000568343,;TYRO3,missense_variant,p.Ser57Arg,ENST00000559815,;TYRO3,non_coding_transcript_exon_variant,,ENST00000560227,;TYRO3,upstream_gene_variant,,ENST00000560162,;TYRO3,upstream_gene_variant,,ENST00000559851,;							MODERATE	972/2673	S324R	TYRO3_HUMAN			Transcript		benign(0.015)	.	ENSP00000263798		CCDS10080.1			1	
PPP2CA	0	LGGM	GRCh37	5	133537564	133537564	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	20	7	.	.	ENST00000481195.1:c.461C>T	p.Pro154Leu	p.P154L	ENST00000481195	NM_002715.2	154	cCt/cTt	0	1	1	UPI0000000C15	0	getma.org/pdb.php?prot=PP2AA_HUMAN&from=50&to=245&var=P154L	ENST00000481195		ENSG00000113575	9299		27	4.73		HGNC	p.P154L		PPP2CA		SNV							ENST00000481195	protein_coding	getma.org/?cm=var&var=hg19,5,133537564,G,A&fts=all		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF216,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114		P/L		A	high	742/4649		getma.org/?cm=msa&ty=f&p=PP2AA_HUMAN&rb=50&re=245&var=P154L	deleterious(0.03)	E5RHP4_HUMAN,B3KUN1_HUMAN,B3KQ51_HUMAN			YES	PPP2CA,missense_variant,p.Pro154Leu,ENST00000481195,NM_002715.2;PPP2CA,missense_variant,p.Pro89Leu,ENST00000522385,;PPP2CA,missense_variant,p.Pro141Leu,ENST00000523082,;CTD-2410N18.5,intron_variant,,ENST00000519718,;CDKL3,downstream_gene_variant,,ENST00000609654,;CDKL3,downstream_gene_variant,,ENST00000609383,;CTD-2410N18.4,downstream_gene_variant,,ENST00000518409,;PPP2CA,downstream_gene_variant,,ENST00000231504,;PPP2CA,non_coding_transcript_exon_variant,,ENST00000495833,;CTD-2410N18.4,downstream_gene_variant,,ENST00000520515,;PPP2CA,upstream_gene_variant,,ENST00000472253,;							MODERATE	461/930	P154L	PP2AA_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000418447		CCDS4173.1			1	
FMN2	0	LGGM	GRCh37	1	240370419	240370419	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	44	8	.	.	ENST00000319653.9:c.2307C>T	p.Cys769=	p.C769=	ENST00000319653	NM_020066.4	769	tgC/tgT	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		52			HGNC	p.C206C		FMN2		SNV			1				ENST00000447095	protein_coding			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185		C		T		2537/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,synonymous_variant,p.=,ENST00000319653,NM_020066.4;FMN2,synonymous_variant,p.=,ENST00000447095,;							LOW	2307/5169		FMN2_HUMAN			Transcript			.	ENSP00000318884		CCDS31069.2			1	
PRPS2	0	LGGM	GRCh37	X	12828153	12828153	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	15	8	.	.	ENST00000398491.2:c.427A>G	p.Ile143Val	p.I143V	ENST00000398491		143	Att/Gtt	0	1		UPI000000D98E	0	getma.org/pdb.php?prot=PRPS2_HUMAN&from=121&to=148&var=I140V	ENST00000380668		ENSG00000101911	9465		23	1.12		HGNC	p.I143V		PRPS2		SNV							ENST00000398491	protein_coding	getma.org/?cm=var&var=hg19,X,12828153,A,G&fts=all		Gene3D:3.40.50.2020,HAMAP:MF_00583_B,PROSITE_patterns:PS00114,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF30,Superfamily_domains:SSF53271,TIGRFAM_domain:TIGR01251		I/V		G	low	546/2511		getma.org/?cm=msa&ty=f&p=PRPS2_HUMAN&rb=91&re=178&var=I140V	tolerated(0.35)					PRPS2,missense_variant,p.Ile140Val,ENST00000380668,NM_001039091.2,NM_002765.4;PRPS2,missense_variant,p.Ile143Val,ENST00000398491,;PRPS2,missense_variant,p.Ile53Val,ENST00000461630,;PRPS2,missense_variant,p.Ile140Val,ENST00000489404,;PRPS2,intron_variant,,ENST00000380663,;							MODERATE	418/957	I140V	PRPS2_HUMAN			Transcript		benign(0.008)	.	ENSP00000370043		CCDS14150.1			1	
ZNRF3	0	LGGM	GRCh37	22	29438514	29438514	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	7	8	.	.	ENST00000544604.2:c.458C>T	p.Ala153Val	p.A153V	ENST00000544604	NM_001206998.1	153	gCa/gTa	0	1	1	UPI0000EE5944	0	NA	ENST00000544604		ENSG00000183579	18126		15	1.7		HGNC	p.A53V		ZNRF3		SNV							ENST00000406323	protein_coding	getma.org/?cm=var&var=hg19,22,29438514,C,T&fts=all		hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200		A/V		T	low	633/6851		getma.org/?cm=msa&ty=f&p=ZNRF3_HUMAN&rb=1&re=229&var=A153V	deleterious(0)				YES	ZNRF3,missense_variant,p.Ala153Val,ENST00000544604,NM_001206998.1;ZNRF3,missense_variant,p.Ala53Val,ENST00000332811,;ZNRF3,missense_variant,p.Ala53Val,ENST00000406323,;ZNRF3,missense_variant,p.Ala53Val,ENST00000402174,NM_032173.3;							MODERATE	458/2811	A153V	ZNRF3_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000443824		CCDS56225.1			1	
CDC14A	0	LGGM	GRCh37	1	100920996	100920996	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	10	8	.	.	ENST00000361544.6:c.555A>G	p.Pro185=	p.P185=	ENST00000361544	NM_033312.2	185	ccA/ccG	0	1		UPI0000071036	0		ENST00000336454		ENSG00000079335	1718		18			HGNC	p.P127P		CDC14A		SNV							ENST00000542213	protein_coding			Gene3D:3.90.190.10,hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF62,Superfamily_domains:SSF52799		P		G		910/4137								CDC14A,synonymous_variant,p.=,ENST00000336454,NM_003672.3;CDC14A,synonymous_variant,p.=,ENST00000361544,NM_033312.2;CDC14A,synonymous_variant,p.=,ENST00000542213,;CDC14A,synonymous_variant,p.=,ENST00000544534,;CDC14A,synonymous_variant,p.=,ENST00000370124,NM_033313.2;CDC14A,synonymous_variant,p.=,ENST00000455467,;CDC14A,intron_variant,,ENST00000370125,;							LOW	555/1785		CC14A_HUMAN			Transcript			.	ENSP00000336739		CCDS769.1			1	
ZNRF3	0	LGGM	GRCh37	22	29438513	29438513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	7	8	.	.	ENST00000544604.2:c.457G>T	p.Ala153Ser	p.A153S	ENST00000544604	NM_001206998.1	153	Gca/Tca	0	1	1	UPI0000EE5944	0	NA	ENST00000544604		ENSG00000183579	18126		15	1.7		HGNC	p.A53S		ZNRF3		SNV							ENST00000406323	protein_coding	getma.org/?cm=var&var=hg19,22,29438513,G,T&fts=all		hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200		A/S		T	low	632/6851		getma.org/?cm=msa&ty=f&p=ZNRF3_HUMAN&rb=1&re=229&var=A153S	deleterious(0)				YES	ZNRF3,missense_variant,p.Ala153Ser,ENST00000544604,NM_001206998.1;ZNRF3,missense_variant,p.Ala53Ser,ENST00000332811,;ZNRF3,missense_variant,p.Ala53Ser,ENST00000406323,;ZNRF3,missense_variant,p.Ala53Ser,ENST00000402174,NM_032173.3;							MODERATE	457/2811	A153S	ZNRF3_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000443824		CCDS56225.1			1	
TP53	0	LGGM	GRCh37	17	7577610	7577610	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	0	9	.	.	ENST00000269305.4:c.673-2A>C		p.X225_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		9			HGNC	-	TP53_g.13308A>C	TP53		SNV			1				ENST00000413465	protein_coding							G		-/2579				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			YES	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,;							HIGH	673/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
TFPI2	0	LGGM	GRCh37	7	93516686	93516686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	19	9	.	.	ENST00000222543.5:c.518G>T	p.Arg173Leu	p.R173L	ENST00000222543	NM_001271004.1	173	cGc/cTc	0	1	1	UPI00000362E2	0	getma.org/pdb.php?prot=TFPI2_HUMAN&from=157&to=209&var=R173L	ENST00000222543		ENSG00000105825	11761		28	2.775		HGNC	p.R173L		TFPI2		SNV							ENST00000222543	protein_coding	getma.org/?cm=var&var=hg19,7,93516686,C,A&fts=all		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		R/L		A	medium	831/2444		getma.org/?cm=msa&ty=f&p=TFPI2_HUMAN&rb=157&re=209&var=R173L	deleterious(0)	Q8NE89_HUMAN,Q8NAK6_HUMAN			YES	TFPI2,missense_variant,p.Arg173Leu,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;GNGT1,intron_variant,,ENST00000455502,;TFPI2,intron_variant,,ENST00000545378,;TFPI2,intron_variant,,ENST00000451238,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,downstream_gene_variant,,ENST00000461482,;							MODERATE	518/708	R173L	TFPI2_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000222543		CCDS5632.1			1	
DGKH	0	LGGM	GRCh37	13	42703714	42703714	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	13	9	.	.	ENST00000337343.4:c.330C>G	p.Leu110=	p.L110=	ENST00000337343	NM_178009.3	110	ctC/ctG	0	1	1	UPI000017DA47	0		ENST00000337343		ENSG00000102780	2854		22			HGNC	p.L110L	COSM1747448	DGKH		SNV						1	ENST00000337343	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR11255:SF37,hmmpanther:PTHR11255,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		L		G		351/4246							YES	DGKH,synonymous_variant,p.=,ENST00000261491,NM_152910.4;DGKH,synonymous_variant,p.=,ENST00000337343,NM_178009.3;DGKH,synonymous_variant,p.=,ENST00000540693,NM_001204504.1;DGKH,5_prime_UTR_variant,,ENST00000379274,;					1		LOW	330/3663		DGKH_HUMAN			Transcript			.	ENSP00000337572		CCDS9381.1			1	
NDST4	0	LGGM	GRCh37	4	115792015	115792015	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	27	9	.	.	ENST00000264363.2:c.1628G>C	p.Trp543Ser	p.W543S	ENST00000264363	NM_022569.1	543	tGg/tCg	0	1	1	UPI000006CED7	0	NA	ENST00000264363		ENSG00000138653	20779		36	2.955		HGNC	p.W164S		NDST4		SNV							ENST00000504854	protein_coding	getma.org/?cm=var&var=hg19,4,115792015,C,G&fts=all		hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29		W/S		G	medium	2307/3351		getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=506&re=593&var=W543S	deleterious(0.01)				YES	NDST4,missense_variant,p.Trp543Ser,ENST00000264363,NM_022569.1;NDST4,missense_variant,p.Trp164Ser,ENST00000504854,;							MODERATE	1628/2619	W543S	NDST4_HUMAN			Transcript		benign(0)	.	ENSP00000264363		CCDS3706.1			1	
GPR115	0	LGGM	GRCh37	6	47681904	47681904	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	25	9	.	.	ENST00000283303.2:c.923A>C	p.Gln308Pro	p.Q308P	ENST00000283303	NM_153838.3	308	cAa/cCa	0	1	1	UPI000046FF2B	0	NA	ENST00000283303		ENSG00000153294	19011		34	0.6		HGNC	p.Q308P		GPR115		SNV							ENST00000327753	protein_coding	getma.org/?cm=var&var=hg19,6,47681904,A,C&fts=all		hmmpanther:PTHR12011:SF229,hmmpanther:PTHR12011		Q/P		C	neutral	1181/3162		getma.org/?cm=msa&ty=f&p=GP115_HUMAN&rb=201&re=344&var=Q308P	tolerated(0.22)				YES	GPR115,missense_variant,p.Gln308Pro,ENST00000283303,NM_153838.3;GPR115,missense_variant,p.Gln365Pro,ENST00000371220,;GPR115,missense_variant,p.Gln308Pro,ENST00000327753,;RN7SKP116,upstream_gene_variant,,ENST00000516902,;							MODERATE	923/2088	Q308P	GP115_HUMAN			Transcript		benign(0.001)	.	ENSP00000283303		CCDS4922.2			1	
LYST	0	LGGM	GRCh37	1	235897784	235897784	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	39	9	.	.	ENST00000389794.3:c.8534A>T	p.Glu2845Val	p.E2845V	ENST00000389794		2845	gAg/gTg	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		48	2.19		HGNC	p.E2845V		LYST		SNV			1				ENST00000389794	protein_coding	getma.org/?cm=var&var=hg19,1,235897784,T,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60		E/V		A	medium	8709/13471		getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=1683&re=2859&var=E2845V	deleterious(0)					LYST,missense_variant,p.Glu2845Val,ENST00000389794,;LYST,missense_variant,p.Glu2845Val,ENST00000389793,NM_000081.3;LYST,splice_region_variant,,ENST00000473037,;LYST,downstream_gene_variant,,ENST00000461526,;LDHAP2,upstream_gene_variant,,ENST00000437325,;							MODERATE	8534/11406	E2845V	LYST_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000374443		CCDS31062.1			1	
FAM120C	0	LGGM	GRCh37	X	54161371	54161371	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	13	9	.	.	ENST00000375180.2:c.1509A>C	p.Ala503=	p.A503=	ENST00000375180	NM_017848.4	503	gcA/gcC	0	1	1	UPI000022DC3D	0		ENST00000375180		ENSG00000184083	16949		22			HGNC	p.A503A		FAM120C		SNV							ENST00000328235	protein_coding			hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF15		A		G		1566/8057							YES	FAM120C,synonymous_variant,p.=,ENST00000375180,NM_017848.4;FAM120C,synonymous_variant,p.=,ENST00000328235,;							LOW	1509/3291		F120C_HUMAN			Transcript			.	ENSP00000364324		CCDS14356.1			1	
C21orf58	0	LGGM	GRCh37	21	47737964	47737964	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	15	10	.	.	ENST00000291691.7:c.271G>T	p.Glu91Ter	p.E91*	ENST00000291691	NM_058180.3	91	Gag/Tag	0	1	1	UPI0000231C71	0	NA	ENST00000291691		ENSG00000160298	1300		25	0		HGNC	p.E8X		C21orf58		SNV							ENST00000397685	protein_coding	getma.org/?cm=var&var=hg19,21,47737964,C,A&fts=all				E/*		A	NA	1408/2975		NA		H7C1T9_HUMAN			YES	C21orf58,stop_gained,p.Glu91Ter,ENST00000291691,NM_058180.3;C21orf58,stop_gained,p.Glu8Ter,ENST00000397685,;C21orf58,stop_gained,p.Glu53Ter,ENST00000417060,;C21orf58,5_prime_UTR_variant,,ENST00000397682,NM_001286476.1;C21orf58,5_prime_UTR_variant,,ENST00000397679,NM_001286463.1;C21orf58,5_prime_UTR_variant,,ENST00000397680,NM_001286477.1;C21orf58,5_prime_UTR_variant,,ENST00000445935,;C21orf58,5_prime_UTR_variant,,ENST00000397683,NM_001286462.1;C21orf58,stop_gained,p.Glu53Ter,ENST00000491666,;C21orf58,non_coding_transcript_exon_variant,,ENST00000475776,;							HIGH	271/969	E91*	CU058_HUMAN			Transcript			.	ENSP00000291691		CCDS13735.1			1	
INPP4B	0	LGGM	GRCh37	4	143130141	143130141	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	39	10	.	.	ENST00000262992.4:c.875A>G	p.His292Arg	p.H292R	ENST00000262992	NM_001101669.1	292	cAt/cGt	0	1		UPI000013D37A	0	NA	ENST00000262992		ENSG00000109452	6075		49	1.895		HGNC	p.H292R		INPP4B		SNV							ENST00000510812	protein_coding	getma.org/?cm=var&var=hg19,4,143130141,T,C&fts=all		hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187		H/R		C	low	1092/3741		getma.org/?cm=msa&ty=f&p=INP4B_HUMAN&rb=1&re=581&var=H292R	tolerated(0.8)	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN				INPP4B,missense_variant,p.His292Arg,ENST00000513000,NM_003866.2;INPP4B,missense_variant,p.His292Arg,ENST00000509777,;INPP4B,missense_variant,p.His292Arg,ENST00000262992,NM_001101669.1;INPP4B,missense_variant,p.His292Arg,ENST00000508116,;INPP4B,missense_variant,p.His292Arg,ENST00000308502,;INPP4B,missense_variant,p.His292Arg,ENST00000510812,;INPP4B,missense_variant,p.His107Arg,ENST00000511838,;INPP4B,missense_variant,p.His163Arg,ENST00000514525,;INPP4B,missense_variant,p.His292Arg,ENST00000512630,;							MODERATE	875/2775	H292R	INP4B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262992		CCDS3757.1			1	
HK2	0	LGGM	GRCh37	2	75100474	75100474	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	11	10	.	.	ENST00000290573.2:c.567C>T	p.Ile189=	p.I189=	ENST00000290573	NM_000189.4	189	atC/atT	0	1	1	UPI00000706E4	0		ENST00000290573		ENSG00000159399	4923		21			HGNC	p.I161I		HK2		SNV							ENST00000409174	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF00349,Superfamily_domains:SSF53067		I		T		1167/5772				Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN			YES	HK2,synonymous_variant,p.=,ENST00000290573,NM_000189.4;HK2,synonymous_variant,p.=,ENST00000409174,;							LOW	567/2754		HXK2_HUMAN			Transcript			.	ENSP00000290573		CCDS1956.1			1	
SPATA17	0	LGGM	GRCh37	1	217947721	217947721	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	87	10	.	.	ENST00000366933.4:c.565T>A	p.Trp189Arg	p.W189R	ENST00000366933	NM_138796.2	189	Tgg/Agg	0	1	1	UPI00000717C2	0	NA	ENST00000366933		ENSG00000162814	25184		97	0.92		HGNC	p.W189R		SPATA17		SNV							ENST00000366933	protein_coding	getma.org/?cm=var&var=hg19,1,217947721,T,A&fts=all		hmmpanther:PTHR22706		W/R		A	low	620/5818		getma.org/?cm=msa&ty=f&p=SPT17_HUMAN&rb=116&re=359&var=W189R	tolerated(0.3)	R4GN71_HUMAN			YES	SPATA17,missense_variant,p.Trp189Arg,ENST00000366933,NM_138796.2;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;SPATA17,3_prime_UTR_variant,,ENST00000470448,;							MODERATE	565/1086	W189R	SPT17_HUMAN			Transcript		benign(0.002)	.	ENSP00000355900		CCDS1519.1			1	
PCDH15	0	LGGM	GRCh37	10	55721604	55721604	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	16	10	.	.	ENST00000361849.3:c.2917C>T	p.Pro973Ser	p.P973S	ENST00000361849	NM_001142768.1	973	Cct/Tct	0	1		UPI000014083E	0	getma.org/pdb.php?prot=PCD15_HUMAN&from=931&to=1027&var=P973S	ENST00000320301		ENSG00000150275	14674		26	1.09		HGNC	p.P902S	COSM1702439,COSM1702440,COSM1702442,COSM1702441	PCDH15		SNV			1			1,1,1,1	ENST00000437009	protein_coding	getma.org/?cm=var&var=hg19,10,55721604,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/S		A	low	3312/6845		getma.org/?cm=msa&ty=f&p=PCD15_HUMAN&rb=931&re=1027&var=P973S	tolerated(0.08)	A2A3D9_HUMAN				PCDH15,missense_variant,p.Pro980Ser,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Pro978Ser,ENST00000414778,;PCDH15,missense_variant,p.Pro973Ser,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,missense_variant,p.Pro936Ser,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Pro951Ser,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Pro973Ser,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Pro973Ser,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Pro902Ser,ENST00000437009,;PCDH15,missense_variant,p.Pro973Ser,ENST00000395438,NM_001142770.1;PCDH15,missense_variant,p.Pro980Ser,ENST00000395445,NM_001142769.1;PCDH15,missense_variant,p.Pro584Ser,ENST00000409834,;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,;					1,1,1,1		MODERATE	2917/5868	P973S	PCD15_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000322604		CCDS7248.1			1	
RCBTB1	0	LGGM	GRCh37	13	50123721	50123721	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	17	10	.	.	ENST00000378302.2:c.918C>T	p.His306=	p.H306=	ENST00000378302	NM_018191.3	306	caC/caT	0	1		UPI000007181F	0		ENST00000258646		ENSG00000136144	18243		27			HGNC	p.H306H	rs761214206	RCBTB1	6.08E-05	SNV							ENST00000258646	protein_coding			hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF133,Gene3D:2.130.10.30,Superfamily_domains:SSF50985		H		A		962/3816				Q9NVI3_HUMAN,B3KR20_HUMAN				RCBTB1,synonymous_variant,p.=,ENST00000378302,NM_018191.3;RCBTB1,synonymous_variant,p.=,ENST00000258646,;RCBTB1,synonymous_variant,p.=,ENST00000546015,;RCBTB1,downstream_gene_variant,,ENST00000490058,;	0.000231						LOW	918/1596		RCBT1_HUMAN			Transcript			.	ENSP00000258646	2.47E-05	CCDS9418.1			1	
TMCO6	0	LGGM	GRCh37	5	140023398	140023398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	16	10	.	.	ENST00000394671.3:c.952C>A	p.Leu318Met	p.L318M	ENST00000394671	NM_018502.3	318	Ctg/Atg	0	1	1	UPI00003E5FF0	0	NA	ENST00000394671		ENSG00000113119	28814		26	1.1		HGNC	p.L318M		TMCO6		SNV							ENST00000394671	protein_coding	getma.org/?cm=var&var=hg19,5,140023398,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR16356,Superfamily_domains:SSF48371		L/M		A	low	1053/1887		getma.org/?cm=msa&ty=f&p=TMCO6_HUMAN&rb=201&re=400&var=L318M	deleterious(0.03)				YES	TMCO6,missense_variant,p.Leu318Met,ENST00000394671,NM_018502.3;TMCO6,missense_variant,p.Leu324Met,ENST00000252100,;TMCO6,missense_variant,p.Leu78Met,ENST00000537378,;IK,upstream_gene_variant,,ENST00000417647,NM_006083.3;TMCO6,downstream_gene_variant,,ENST00000511410,;IK,upstream_gene_variant,,ENST00000508301,;NDUFA2,downstream_gene_variant,,ENST00000252102,NM_001185012.1,NM_002488.4;IK,upstream_gene_variant,,ENST00000502899,;NDUFA2,downstream_gene_variant,,ENST00000512088,;IK,upstream_gene_variant,,ENST00000513256,;IK,upstream_gene_variant,,ENST00000507593,;MIR3655,upstream_gene_variant,,ENST00000581765,;NDUFA2,intron_variant,,ENST00000510680,;IK,upstream_gene_variant,,ENST00000523672,;TMCO6,non_coding_transcript_exon_variant,,ENST00000510336,;TMCO6,non_coding_transcript_exon_variant,,ENST00000515265,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509605,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509269,;TMCO6,downstream_gene_variant,,ENST00000505086,;TMCO6,downstream_gene_variant,,ENST00000514449,;NDUFA2,downstream_gene_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000515653,;TMCO6,downstream_gene_variant,,ENST00000513002,;TMCO6,downstream_gene_variant,,ENST00000504069,;TMCO6,downstream_gene_variant,,ENST00000509217,;IK,upstream_gene_variant,,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000394669,;IK,upstream_gene_variant,,ENST00000512827,;							MODERATE	952/1482	L318M	TMCO6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378166		CCDS4233.2			1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	30	13	.	.	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33P	ENST00000349496		ENSG00000168036	2514		43	2.46		HGNC	p.S33P	COSM5682	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33P	CTNB1_HUMAN			Transcript		benign(0.423)	.	ENSP00000344456		CCDS2694.1			1	
HDC	0	LGGM	GRCh37	15	50545796	50545796	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	22	11	.	.	ENST00000267845.3:c.787+1G>T		p.X263_splice	ENST00000267845	NM_002112.3			0	1	1	UPI0000128FB4	0		ENST00000267845		ENSG00000140287	4855		33			HGNC	-		HDC		SNV							ENST00000267845	protein_coding							A		-/2705							YES	HDC,splice_donor_variant,,ENST00000267845,NM_002112.3;HDC,splice_donor_variant,,ENST00000543581,;HDC,downstream_gene_variant,,ENST00000559683,;HDC,non_coding_transcript_exon_variant,,ENST00000558761,;HDC,non_coding_transcript_exon_variant,,ENST00000559190,;HDC,upstream_gene_variant,,ENST00000559816,;HDC,downstream_gene_variant,,ENST00000558679,;							HIGH	787/1989		DCHS_HUMAN			Transcript			.	ENSP00000267845		CCDS10134.1			1	
CYLC1	0	LGGM	GRCh37	X	83129106	83129106	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	17	11	.	.	ENST00000329312.4:c.1390G>T	p.Gly464Trp	p.G464W	ENST00000329312	NM_021118.2	464	Ggg/Tgg	0	1	1	UPI0000251E1D	0	NA	ENST00000329312		ENSG00000183035	2582		28	1.355		HGNC	p.G464W		CYLC1		SNV							ENST00000329312	protein_coding	getma.org/?cm=var&var=hg19,X,83129106,G,T&fts=all		hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1,Low_complexity_(Seg):seg		G/W		T	low	1427/2106		getma.org/?cm=msa&ty=f&p=CYLC1_HUMAN&rb=401&re=600&var=G464W	deleterious(0.01)				YES	CYLC1,missense_variant,p.Gly464Trp,ENST00000329312,NM_021118.2;							MODERATE	1390/1956	G464W	CYLC1_HUMAN			Transcript		possibly_damaging(0.522)	.	ENSP00000331556		CCDS35341.1			1	
ZNF324	0	LGGM	GRCh37	19	58983321	58983321	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	14	11	.	.	ENST00000536459.2:c.1462C>T	p.Arg488Cys	p.R488C	ENST00000536459		488	Cgc/Tgc	0	1		UPI000013C359	0	getma.org/pdb.php?prot=Z324A_HUMAN&from=467&to=492&var=R488C	ENST00000196482		ENSG00000083812	14096		25	2.89		HGNC	p.R488C	rs770914514	ZNF324		SNV							ENST00000536459	protein_coding	getma.org/?cm=var&var=hg19,19,58983321,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/C		T	medium	1556/3000	1.56E-05	getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=447&re=512&var=R488C	deleterious(0)	F5H1K2_HUMAN				ZNF324,missense_variant,p.Arg488Cys,ENST00000536459,;ZNF324,missense_variant,p.Arg488Cys,ENST00000196482,NM_014347.2;ZNF324,missense_variant,p.Arg347Cys,ENST00000593925,;ZNF324,missense_variant,p.Arg265Cys,ENST00000535298,;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,;							MODERATE	1462/1662	R488C	Z324A_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000196482	8.25E-06	CCDS12981.1			1	
SRCAP	0	LGGM	GRCh37	16	30745936	30745936	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	12	11	.	.	ENST00000262518.4:c.6729G>A	p.Gln2243=	p.Q2243=	ENST00000262518	NM_006662.2	2243	caG/caA	0	1	1	UPI000059D368	0		ENST00000262518		ENSG00000080603	16974		23			HGNC	p.Q2243Q		SRCAP		SNV			1				ENST00000262518	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581		Q		A		7114/10474				G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,splice_region_variant,p.=,ENST00000262518,NM_006662.2;SRCAP,splice_region_variant,p.=,ENST00000395059,;SRCAP,splice_region_variant,p.=,ENST00000344771,;SRCAP,splice_region_variant,p.=,ENST00000380361,;SRCAP,splice_region_variant,,ENST00000474008,;							LOW	6729/9693		SRCAP_HUMAN			Transcript			.	ENSP00000262518		CCDS10689.2			1	
ZXDA	0	LGGM	GRCh37	X	57935574	57935574	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	18	11	.	.	ENST00000358697.4:c.1281C>T	p.Cys427=	p.C427=	ENST00000358697	NM_007156.4	427	tgC/tgT	0	1	1	UPI000013C494	0		ENST00000358697		ENSG00000198205	13198		29			HGNC	p.C427C		ZXDA		SNV							ENST00000358697	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72,SMART_domains:SM00355		C		A		1494/5204							YES	ZXDA,synonymous_variant,p.=,ENST00000358697,NM_007156.4;							LOW	1281/2400		ZXDA_HUMAN			Transcript			.	ENSP00000351530		CCDS14376.1			1	
GALE	0	LGGM	GRCh37	1	24125463	24125463	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	24	11	.	.	ENST00000374497.3:c.35G>T	p.Gly12Val	p.G12V	ENST00000374497	NM_001008216.1	12	gGc/gTc	0	1	1	UPI000011133A	0	getma.org/pdb.php?prot=GALE_HUMAN&from=5&to=270&var=G12V	ENST00000374497		ENSG00000117308	4116		35	4.96		HGNC	p.G12V		GALE		SNV			1				ENST00000445705	protein_coding	getma.org/?cm=var&var=hg19,1,24125463,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01370,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF39,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR01179		G/V		A	high	127/1488		getma.org/?cm=msa&ty=f&p=GALE_HUMAN&rb=5&re=270&var=G12V	deleterious(0)	Q5QPP3_HUMAN,Q5QPP2_HUMAN,Q5QPP1_HUMAN,Q38G75_HUMAN			YES	GALE,missense_variant,p.Gly12Val,ENST00000374497,NM_001008216.1,NM_001127621.1,NM_000403.3;GALE,missense_variant,p.Gly12Val,ENST00000425913,;GALE,missense_variant,p.Gly12Val,ENST00000445705,;GALE,intron_variant,,ENST00000429356,;GALE,intron_variant,,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,;LYPLA2,downstream_gene_variant,,ENST00000374503,;GALE,upstream_gene_variant,,ENST00000456977,;LYPLA2,downstream_gene_variant,,ENST00000420982,;GALE,non_coding_transcript_exon_variant,,ENST00000470383,;GALE,non_coding_transcript_exon_variant,,ENST00000459934,;GALE,non_coding_transcript_exon_variant,,ENST00000467493,;GALE,non_coding_transcript_exon_variant,,ENST00000466250,;GALE,non_coding_transcript_exon_variant,,ENST00000467070,;GALE,non_coding_transcript_exon_variant,,ENST00000486382,;GALE,intron_variant,,ENST00000481736,;GALE,intron_variant,,ENST00000470949,;HMGCL,downstream_gene_variant,,ENST00000509389,;GALE,upstream_gene_variant,,ENST00000469556,;LYPLA2,downstream_gene_variant,,ENST00000495365,;LYPLA2,downstream_gene_variant,,ENST00000472213,;LYPLA2,downstream_gene_variant,,ENST00000492577,;HMGCL,downstream_gene_variant,,ENST00000374487,;							MODERATE	35/1047	G12V	GALE_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363621		CCDS242.1			1	
MIA3	0	LGGM	GRCh37	1	222803344	222803344	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	34	12	.	.	ENST00000344922.5:c.2782A>T	p.Ser928Cys	p.S928C	ENST00000344922	NM_198551.2	928	Agc/Tgc	0	1	1	UPI00001D75B3	0	NA	ENST00000344922		ENSG00000154305	24008		46	1.845		HGNC	p.S928C		MIA3		SNV							ENST00000344922	protein_coding	getma.org/?cm=var&var=hg19,1,222803344,A,T&fts=all		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37		S/C		T	low	2807/8142		getma.org/?cm=msa&ty=f&p=MIA3_HUMAN&rb=421&re=979&var=S928C	deleterious(0)				YES	MIA3,missense_variant,p.Ser928Cys,ENST00000344922,NM_198551.2;MIA3,missense_variant,p.Ser928Cys,ENST00000344441,;MIA3,missense_variant,p.Ser511Cys,ENST00000354906,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;							MODERATE	2782/5724	S928C	MIA3_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000340900		CCDS41470.1			1	
SPOCK1	0	LGGM	GRCh37	5	136314418	136314418	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	29	12	.	.	ENST00000394945.1:c.1245G>A	p.Val415=	p.V415=	ENST00000394945	NM_004598.3	415	gtG/gtA	0	1	1	UPI0000136F50	0		ENST00000394945		ENSG00000152377	11251		41			HGNC	p.V415V	rs370428562	SPOCK1		SNV	T:0						ENST00000282223	protein_coding			hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036		V	T:0.0001	T		1415/4846	1.50E-05			D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN			YES	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,;							LOW	1245/1320		TICN1_HUMAN			Transcript			.	ENSP00000378401	8.24E-06	CCDS4191.1			1	
C1orf86	0	LGGM	GRCh37	1	2125306	2125306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	35	12	.	.	ENST00000378546.4:c.242G>T	p.Gly81Val	p.G81V	ENST00000378546	NM_182533.2	81	gGa/gTa	0	1	1	UPI000155D483	0	NA	ENST00000378546		ENSG00000162585	26428		47	1.67		HGNC	p.G81V		C1orf86		SNV							ENST00000414253	protein_coding	getma.org/?cm=var&var=hg19,1,2125306,C,A&fts=all				G/V		A	low	267/729		getma.org/?cm=msa&ty=f&p=CA086_HUMAN&rb=1&re=180&var=G81V	deleterious(0)				YES	C1orf86,missense_variant,p.Gly81Val,ENST00000420515,NM_001256946.1;C1orf86,missense_variant,p.Gly184Val,ENST00000378545,NM_001282670.1;C1orf86,missense_variant,p.Gly81Val,ENST00000400918,;C1orf86,missense_variant,p.Gly81Val,ENST00000378546,NM_182533.2;C1orf86,missense_variant,p.Asp36Tyr,ENST00000378543,NM_001256947.1;C1orf86,5_prime_UTR_variant,,ENST00000400919,NM_001282671.1;AL590822.2,downstream_gene_variant,,ENST00000597060,;C1orf86,non_coding_transcript_exon_variant,,ENST00000487186,;C1orf86,non_coding_transcript_exon_variant,,ENST00000401813,;C1orf86,non_coding_transcript_exon_variant,,ENST00000469733,;C1orf86,non_coding_transcript_exon_variant,,ENST00000476803,;C1orf86,missense_variant,p.Gly79Val,ENST00000428120,NM_001282671.1;C1orf86,missense_variant,p.Gly81Val,ENST00000414253,NM_001282672.1;C1orf86,missense_variant,p.Gly33Val,ENST00000440825,;C1orf86,non_coding_transcript_exon_variant,,ENST00000497675,;C1orf86,downstream_gene_variant,,ENST00000514625,;							MODERATE	242/543	G81V	FAP20_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000367808		CCDS38.2			1	
MEIS2	0	LGGM	GRCh37	15	37385796	37385796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	8	12	.	.	ENST00000561208.1:c.625A>G	p.Asn209Asp	p.N209D	ENST00000561208		209	Aat/Gat	0	1	1	UPI000012EEBC	0	NA	ENST00000561208		ENSG00000134138	7001		20	0.55		HGNC	p.N121D		MEIS2		SNV			1				ENST00000397620	protein_coding	getma.org/?cm=var&var=hg19,15,37385796,T,C&fts=all		hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850		N/D		C	neutral	1044/4818		getma.org/?cm=msa&ty=f&p=MEIS2_HUMAN&rb=201&re=293&var=N209D	tolerated(0.23)	H0YKN2_HUMAN,H0YKE5_HUMAN			YES	MEIS2,missense_variant,p.Asn209Asp,ENST00000338564,NM_001220482.1;MEIS2,missense_variant,p.Asn209Asp,ENST00000561208,;MEIS2,missense_variant,p.Asn209Asp,ENST00000444725,NM_170677.4,NM_170674.4;MEIS2,missense_variant,p.Asn209Asp,ENST00000382766,NM_170676.4,NM_170675.4;MEIS2,missense_variant,p.Asn196Asp,ENST00000340545,NM_002399.3;MEIS2,missense_variant,p.Asn209Asp,ENST00000424352,;MEIS2,missense_variant,p.Asn121Asp,ENST00000397624,;MEIS2,missense_variant,p.Asn196Asp,ENST00000557796,;MEIS2,missense_variant,p.Asn196Asp,ENST00000559085,NM_172315.2;MEIS2,missense_variant,p.Asn63Asp,ENST00000219869,;MEIS2,missense_variant,p.Asn121Asp,ENST00000397620,NM_172316.2;MEIS2,missense_variant,p.Asn209Asp,ENST00000559561,;MEIS2,missense_variant,p.Asn68Asp,ENST00000607277,;MEIS2,missense_variant,p.Asn63Asp,ENST00000560617,;MEIS2,missense_variant,p.Asn63Asp,ENST00000560697,;MEIS2,missense_variant,p.Asn59Asp,ENST00000606653,;MEIS2,downstream_gene_variant,,ENST00000558313,;MEIS2,missense_variant,p.Asn209Asp,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561163,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561422,;MEIS2,downstream_gene_variant,,ENST00000559129,;							MODERATE	625/1434	N209D	MEIS2_HUMAN			Transcript		benign(0.065)	.	ENSP00000453793		CCDS10044.1			1	
SMU1	0	LGGM	GRCh37	9	33073705	33073705	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	28	12	.	.	ENST00000397149.3:c.126C>A	p.Asp42Glu	p.D42E	ENST00000397149	NM_018225.2	42	gaC/gaA	0	1	1	UPI0000022E9B	0	NA	ENST00000397149		ENSG00000122692	18247		40	1.19		HGNC	p.D42E		SMU1		SNV							ENST00000397149	protein_coding	getma.org/?cm=var&var=hg19,9,33073705,G,T&fts=all		PROSITE_profiles:PS50897,hmmpanther:PTHR22848,SMART_domains:SM00668		D/E		T	low	177/7122		getma.org/?cm=msa&ty=f&p=SMU1_HUMAN&rb=4&re=171&var=D42E	tolerated(0.28)	B4E3L0_HUMAN,A0MNN4_HUMAN			YES	SMU1,missense_variant,p.Asp42Glu,ENST00000397149,NM_018225.2;SMU1,intron_variant,,ENST00000536631,;							MODERATE	126/1542	D42E	SMU1_HUMAN			Transcript		benign(0.032)	.	ENSP00000380336		CCDS6534.1			1	
HK1	0	LGGM	GRCh37	10	71144219	71144219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	14	12	.	.	ENST00000404387.2:c.1713G>T	p.Met571Ile	p.M571I	ENST00000404387		571	atG/atT	0	1		UPI0000111BA5	0	getma.org/pdb.php?prot=HXK1_HUMAN&from=464&to=669&var=M567I	ENST00000359426		ENSG00000156515	4922		26	2.725		HGNC	p.M571I		HK1		SNV			1				ENST00000404387	protein_coding	getma.org/?cm=var&var=hg19,10,71144219,G,T&fts=all		Superfamily_domains:SSF53067,Pfam_domain:PF00349,Gene3D:3.30.420.40,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF10		M/I		T	medium	1805/3605		getma.org/?cm=msa&ty=f&p=HXK1_HUMAN&rb=464&re=669&var=M567I	tolerated(0.06)	Q71V75_HUMAN,Q59FD4_HUMAN,B4DG62_HUMAN				HK1,missense_variant,p.Met602Ile,ENST00000448642,;HK1,missense_variant,p.Met555Ile,ENST00000360289,NM_033498.2,NM_033500.2,NM_033497.2;HK1,missense_variant,p.Met567Ile,ENST00000359426,NM_000188.2;HK1,missense_variant,p.Met566Ile,ENST00000298649,NM_033496.2;HK1,missense_variant,p.Met571Ile,ENST00000404387,;HK1,non_coding_transcript_exon_variant,,ENST00000494253,;							MODERATE	1701/2754	M567I	HXK1_HUMAN			Transcript		benign(0.053)	.	ENSP00000352398		CCDS7292.1			1	
ILDR1	0	LGGM	GRCh37	3	121712655	121712655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	3	13	.	.	ENST00000344209.5:c.941G>T	p.Cys314Phe	p.C314F	ENST00000344209	NM_001199799.1	314	tGc/tTc	0	1	1	UPI00003FF1E2	0	NA	ENST00000344209		ENSG00000145103	28741		16	1.95		HGNC	p.C314F		ILDR1		SNV			1				ENST00000344209	protein_coding	getma.org/?cm=var&var=hg19,3,121712655,C,A&fts=all		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF3		C/F		A	medium	1068/2226		getma.org/?cm=msa&ty=f&p=ILDR1_HUMAN&rb=216&re=415&var=C314F	tolerated(0.72)				YES	ILDR1,missense_variant,p.Cys270Phe,ENST00000273691,NM_175924.3;ILDR1,missense_variant,p.Cys314Phe,ENST00000344209,NM_001199799.1;ILDR1,missense_variant,p.Cys282Phe,ENST00000462014,;ILDR1,missense_variant,p.Cys225Phe,ENST00000393631,NM_001199800.1;ILDR1,non_coding_transcript_exon_variant,,ENST00000460554,;							MODERATE	941/1641	C314F	ILDR1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000345667		CCDS56271.1			1	
KIAA1614	0	LGGM	GRCh37	1	180905191	180905191	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	39	13	.	.	ENST00000367588.4:c.2146C>T	p.Arg716Trp	p.R716W	ENST00000367588	NM_020950.1	716	Cgg/Tgg	0	1	1	UPI00001C1D75	0	NA	ENST00000367588		ENSG00000135835	29327		52	0.895		HGNC	p.R716W		KIAA1614		SNV							ENST00000367588	protein_coding	getma.org/?cm=var&var=hg19,1,180905191,C,T&fts=all		hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7		R/W		T	low	2201/9654		getma.org/?cm=msa&ty=f&p=K1614_HUMAN&rb=630&re=829&var=R716W	tolerated(0.06)				YES	KIAA1614,missense_variant,p.Arg716Trp,ENST00000367588,NM_020950.1;KIAA1614,missense_variant,p.Arg337Trp,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,;							MODERATE	2146/3573	R716W	K1614_HUMAN			Transcript		benign(0.015)	.	ENSP00000356560		CCDS41442.1			1	
PCDH15	0	LGGM	GRCh37	10	55626462	55626462	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	8	13	.	.	ENST00000361849.3:c.3657G>C	p.Lys1219Asn	p.K1219N	ENST00000361849	NM_001142768.1	1219	aaG/aaC	0	1		UPI000014083E	0	getma.org/pdb.php?prot=PCD15_HUMAN&from=1149&to=1243&var=K1219N	ENST00000320301		ENSG00000150275	14674		21	0.795		HGNC	p.K1148N		PCDH15		SNV			1				ENST00000437009	protein_coding	getma.org/?cm=var&var=hg19,10,55626462,C,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313		K/N		G	neutral	4052/6845		getma.org/?cm=msa&ty=f&p=PCD15_HUMAN&rb=1149&re=1243&var=K1219N	deleterious(0.01)	A2A3D9_HUMAN				PCDH15,missense_variant,p.Lys1226Asn,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Lys1224Asn,ENST00000414778,;PCDH15,missense_variant,p.Lys1219Asn,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,missense_variant,p.Lys1182Asn,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Lys1197Asn,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Lys1219Asn,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Lys1219Asn,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Lys1148Asn,ENST00000437009,;PCDH15,missense_variant,p.Lys1219Asn,ENST00000395438,NM_001142770.1;PCDH15,missense_variant,p.Lys1226Asn,ENST00000395445,NM_001142769.1;PCDH15,missense_variant,p.Lys830Asn,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,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;							MODERATE	3657/5868	K1219N	PCD15_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000322604		CCDS7248.1			1	
VILL	0	LGGM	GRCh37	3	38048107	38048107	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	34	13	.	.	ENST00000283713.6:c.2373G>A	p.Thr791=	p.T791=	ENST00000283713		791	acG/acA	0	1	1	UPI000022BFB0	0		ENST00000283713		ENSG00000136059	30906		47			HGNC	p.T509T	rs769340171	VILL		SNV							ENST00000465644	protein_coding			Gene3D:1.10.950.10,PROSITE_profiles:PS51089,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF30,Low_complexity_(Seg):seg,Superfamily_domains:SSF47050		T		A		2639/2970	1.53E-05			E9PFV5_HUMAN,C9JUR8_HUMAN			YES	VILL,synonymous_variant,p.=,ENST00000283713,;VILL,synonymous_variant,p.=,ENST00000383759,NM_015873.3;VILL,synonymous_variant,p.=,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,;							LOW	2373/2571		VILL_HUMAN			Transcript			.	ENSP00000283713	8.24E-06	CCDS2670.2			1	
KRTAP5-1	0	LGGM	GRCh37	11	1605846	1605846	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	26	15	.	.	ENST00000382171.2:c.634G>A	p.Val212Met	p.V212M	ENST00000382171	NM_001005922.1	212	Gtg/Atg	0	1	1	UPI000037605D	0	NA	ENST00000382171		ENSG00000205869	23596		41	2.24		HGNC	p.V212M	rs763935742	KRTAP5-1		SNV				9.61E-05			ENST00000382171	protein_coding	getma.org/?cm=var&var=hg19,11,1605846,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262		V/M		T	medium	668/942	4.50E-05	getma.org/?cm=msa&ty=f&p=KRA51_HUMAN&rb=201&re=278&var=V212M					YES	KRTAP5-1,missense_variant,p.Val212Met,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,;							MODERATE	634/837	V212M	KRA51_HUMAN			Transcript		unknown(0)	.	ENSP00000371606	3.29E-05	CCDS31330.1			1	
OR5L1	0	LGGM	GRCh37	11	55579366	55579366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	18	16	.	.	ENST00000333973.2:c.424G>A	p.Val142Met	p.V142M	ENST00000333973	NM_001004738.1	142	Gtg/Atg	0	1	1	UPI0000041864	0	NA	ENST00000333973		ENSG00000186117	8350		34	0.925		HGNC	p.V142M		OR5L1		SNV							ENST00000333973	protein_coding	getma.org/?cm=var&var=hg19,11,55579366,G,A&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321		V/M		A	low	513/1099		getma.org/?cm=msa&ty=f&p=OR5L1_HUMAN&rb=139&re=283&var=V142M	tolerated(0.53)				YES	OR5L1,missense_variant,p.Val142Met,ENST00000333973,NM_001004738.1;							MODERATE	424/936	V142M	OR5L1_HUMAN			Transcript		benign(0.062)	.	ENSP00000335529		CCDS31509.1			1	
SPTA1	0	LGGM	GRCh37	1	158596007	158596007	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	45	16	.	.	ENST00000368147.4:c.5839A>T	p.Lys1947Ter	p.K1947*	ENST00000368147	NM_003126.2	1947	Aag/Tag	0	1	1	UPI0000458906	0	NA	ENST00000368147		ENSG00000163554	11272		61	0		HGNC	p.K1944X		SPTA1		SNV			1				ENST00000368147	protein_coding	getma.org/?cm=var&var=hg19,1,158596007,T,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966		K/*		A	NA	6020/7999		NA		O60686_HUMAN			YES	SPTA1,stop_gained,p.Lys1947Ter,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;							HIGH	5839/7260	K1947*	SPTA1_HUMAN			Transcript			.	ENSP00000357129		CCDS41423.1			1	
SH3D19	0	LGGM	GRCh37	4	152058923	152058923	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	12	16	.	.	ENST00000304527.4:c.1617C>G	p.Asn539Lys	p.N539K	ENST00000304527	NM_001009555.3	539	aaC/aaG	0	1	1	UPI0000251D9A	0	getma.org/pdb.php?prot=SH319_HUMAN&from=501&to=546&var=N539K	ENST00000304527		ENSG00000109686	30418		28	0.215		HGNC	p.N480K		SH3D19		SNV							ENST00000427414	protein_coding	getma.org/?cm=var&var=hg19,4,152058923,G,C&fts=all		Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF00018,Gene3D:2.30.30.40,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF127,PROSITE_profiles:PS50002		N/K		C	neutral	2707/5273		getma.org/?cm=msa&ty=f&p=SH319_HUMAN&rb=501&re=546&var=N539K	deleterious(0.03)				YES	SH3D19,missense_variant,p.Asn516Lys,ENST00000409598,;SH3D19,missense_variant,p.Asn539Lys,ENST00000304527,NM_001009555.3;SH3D19,missense_variant,p.Asn516Lys,ENST00000455740,NM_001128923.1;SH3D19,missense_variant,p.Asn516Lys,ENST00000514152,NM_001243349.1;SH3D19,missense_variant,p.Asn480Lys,ENST00000424281,;SH3D19,missense_variant,p.Asn539Lys,ENST00000409252,;SH3D19,missense_variant,p.Asn480Lys,ENST00000427414,NM_001128924.1;RP11-372K14.2,upstream_gene_variant,,ENST00000603472,;SH3D19,non_coding_transcript_exon_variant,,ENST00000478503,;SH3D19,non_coding_transcript_exon_variant,,ENST00000508492,;							MODERATE	1617/2373	N539K	SH319_HUMAN			Transcript		benign(0.182)	.	ENSP00000302913		CCDS34077.2			1	
USP24	0	LGGM	GRCh37	1	55591415	55591415	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	25	16	.	.	ENST00000294383.6:c.3652A>G	p.Met1218Val	p.M1218V	ENST00000294383	NM_015306.2	1218	Atg/Gtg	0	1	1	UPI000059CFDE	0	NA	ENST00000294383		ENSG00000162402	12623		41	0.895		HGNC	p.M1218V		USP24		SNV							ENST00000294383	protein_coding	getma.org/?cm=var&var=hg19,1,55591415,T,C&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		M/V		C	low	3652/10549		getma.org/?cm=msa&ty=f&p=UBP24_HUMAN&rb=121&re=1439&var=M1218V	deleterious(0.01)				YES	USP24,missense_variant,p.Met1218Val,ENST00000294383,NM_015306.2;USP24,missense_variant,p.Met1058Val,ENST00000407756,;							MODERATE	3652/7863	M1218V	UBP24_HUMAN			Transcript		benign(0.103)	.	ENSP00000294383		CCDS44154.2			1	
SLC35F5	0	LGGM	GRCh37	2	114476766	114476766	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	16	17	.	.	ENST00000245680.2:c.1461A>G	p.Ile487Met	p.I487M	ENST00000245680	NM_025181.2	487	atA/atG	0	1	1	UPI000004C648	0	NA	ENST00000245680		ENSG00000115084	23617		33	0.345		HGNC	p.I487M		SLC35F5		SNV							ENST00000245680	protein_coding	getma.org/?cm=var&var=hg19,2,114476766,T,C&fts=all		hmmpanther:PTHR23051,hmmpanther:PTHR23051:SF0		I/M		C	neutral	1875/4412		getma.org/?cm=msa&ty=f&p=S35F5_HUMAN&rb=317&re=516&var=I487M	tolerated(0.06)				YES	SLC35F5,missense_variant,p.Ile487Met,ENST00000245680,NM_025181.2;SLC35F5,downstream_gene_variant,,ENST00000447673,;MIR4782,downstream_gene_variant,,ENST00000577987,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000470204,;SLC35F5,missense_variant,p.Ile481Met,ENST00000409106,;SLC35F5,missense_variant,p.Ile19Met,ENST00000420066,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000469702,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000459683,;SLC35F5,non_coding_transcript_exon_variant,,ENST00000469314,;SLC35F5,downstream_gene_variant,,ENST00000485214,;							MODERATE	1461/1572	I487M	S35F5_HUMAN			Transcript		benign(0.012)	.	ENSP00000245680		CCDS2119.1			1	
NAT10	0	LGGM	GRCh37	11	34129756	34129756	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	13	18	.	.	ENST00000257829.3:c.-15-2A>T		p.X5_splice	ENST00000257829	NM_024662.2			0	1	1	UPI000013CF8E	0		ENST00000257829		ENSG00000135372	29830		31			HGNC	-		NAT10		SNV							-	protein_coding							T		-/4002				E9PJN6_HUMAN,E7ESU4_HUMAN			YES	NAT10,splice_acceptor_variant,,ENST00000257829,NM_024662.2;NAT10,splice_acceptor_variant,,ENST00000529523,;NAT10,5_prime_UTR_variant,,ENST00000527971,;NAT10,intron_variant,,ENST00000531159,NM_001144030.1;NAT10,splice_acceptor_variant,,ENST00000532503,;NAT10,splice_acceptor_variant,,ENST00000531723,;							HIGH	-/3078		NAT10_HUMAN			Transcript			.	ENSP00000257829		CCDS7889.1			1	
MAP3K13	0	LGGM	GRCh37	3	185155243	185155243	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	21	18	.	.	ENST00000265026.3:c.484G>T	p.Glu162Ter	p.E162*	ENST00000265026	NM_004721.4	162	Gaa/Taa	0	1	1	UPI000006CF91	0	NA	ENST00000265026		ENSG00000073803	6852		39	0		HGNC	p.E162X		MAP3K13		SNV							ENST00000424227	protein_coding	getma.org/?cm=var&var=hg19,3,185155243,G,T&fts=all		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF336,Gene3D:3.30.200.20,PIRSF_domain:PIRSF038165,PIRSF_domain:PIRSF500742,Superfamily_domains:SSF56112		E/*		T	NA	818/9876		NA		C9JP65_HUMAN,C9J4W2_HUMAN			YES	MAP3K13,stop_gained,p.Glu162Ter,ENST00000265026,NM_004721.4;MAP3K13,stop_gained,p.Glu162Ter,ENST00000424227,NM_001242314.1;MAP3K13,stop_gained,p.Glu18Ter,ENST00000443863,;MAP3K13,stop_gained,p.Glu18Ter,ENST00000535426,;MAP3K13,intron_variant,,ENST00000446828,NM_001242317.1;MAP3K13,upstream_gene_variant,,ENST00000420577,;snoU13,upstream_gene_variant,,ENST00000459417,;MAP3K13,missense_variant,p.Gly125Val,ENST00000433092,;MAP3K13,non_coding_transcript_exon_variant,,ENST00000477582,;MAP3K13,intron_variant,,ENST00000438053,;MAP3K13,intron_variant,,ENST00000439882,;							HIGH	484/2901	E162*	M3K13_HUMAN			Transcript			.	ENSP00000265026		CCDS3270.1			1	
KRT6A	0	LGGM	GRCh37	12	52886553	52886553	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	36	18	.	.	ENST00000330722.6:c.420C>T	p.Val140=	p.V140=	ENST00000330722	NM_005554.3	140	gtC/gtT	0	1	1	UPI000013CD4C	0		ENST00000330722		ENSG00000205420	6443		54			HGNC	p.V140V		KRT6A		SNV			1				ENST00000330722	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141		V		A		489/2310							YES	KRT6A,synonymous_variant,p.=,ENST00000330722,NM_005554.3;KRT6A,upstream_gene_variant,,ENST00000549898,;KRT6A,upstream_gene_variant,,ENST00000549754,;KRT6A,upstream_gene_variant,,ENST00000549600,;KRT6A,upstream_gene_variant,,ENST00000548735,;							LOW	420/1695		K2C6A_HUMAN			Transcript			.	ENSP00000369317		CCDS41786.1			1	
IFNA14	0	LGGM	GRCh37	9	21239866	21239866	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	50	19	.	.	ENST00000380222.2:c.69C>T	p.Gly23=	p.G23=	ENST00000380222	NM_002172.2	23	ggC/ggT	0	1	1	UPI00000541D5	0		ENST00000380222		ENSG00000228083	5420		69			HGNC	p.G23G		IFNA14		SNV							ENST00000380222	protein_coding			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691		G		A		113/778							YES	IFNA14,synonymous_variant,p.=,ENST00000380222,NM_002172.2;							LOW	69/570		IFN14_HUMAN			Transcript			.	ENSP00000369571		CCDS6501.1			1	
EIF1B	0	LGGM	GRCh37	3	40353493	40353493	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	25	19	.	.	ENST00000232905.3:c.330T>G	p.Val110=	p.V110=	ENST00000232905	NM_005875.2	110	gtT/gtG	0	1	1	UPI0000003EA1	0		ENST00000232905		ENSG00000114784	30792		44			HGNC	p.V110V		EIF1B		SNV							ENST00000232905	protein_coding			hmmpanther:PTHR10388:SF8,hmmpanther:PTHR10388,TIGRFAM_domain:TIGR01160,Gene3D:3.30.780.10,PIRSF_domain:PIRSF004499,Superfamily_domains:SSF55159		V		G		588/1010				Q6FG85_HUMAN			YES	EIF1B,synonymous_variant,p.=,ENST00000232905,NM_005875.2;ENTPD3-AS1,downstream_gene_variant,,ENST00000439293,;EIF1B,downstream_gene_variant,,ENST00000462088,;EIF1B,downstream_gene_variant,,ENST00000488260,;EIF1B,downstream_gene_variant,,ENST00000487151,;							LOW	330/342		EIF1B_HUMAN			Transcript			.	ENSP00000232905		CCDS2690.1			1	
SCIN	0	LGGM	GRCh37	7	12666248	12666248	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	62	19	.	.	ENST00000297029.5:c.1021A>T	p.Lys341Ter	p.K341*	ENST00000297029	NM_001112706.2	341	Aaa/Taa	0	1	1	UPI000013C4DF	0	NA	ENST00000297029		ENSG00000006747	21695		81	0		HGNC	p.K94X		SCIN		SNV							ENST00000445618	protein_coding	getma.org/?cm=var&var=hg19,7,12666248,A,T&fts=all		Gene3D:3.40.20.10,Prints_domain:PR00597,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF14,SMART_domains:SM00262,Superfamily_domains:SSF82754		K/*		T	NA	1122/3137		NA		Q8NBV9_HUMAN,Q75MG0_HUMAN			YES	SCIN,stop_gained,p.Lys341Ter,ENST00000297029,NM_001112706.2;SCIN,stop_gained,p.Lys94Ter,ENST00000519209,NM_033128.3;SCIN,stop_gained,p.Lys94Ter,ENST00000445618,;SCIN,downstream_gene_variant,,ENST00000523729,;SCIN,downstream_gene_variant,,ENST00000518849,;SCIN,non_coding_transcript_exon_variant,,ENST00000473722,;SCIN,downstream_gene_variant,,ENST00000486980,;SCIN,stop_gained,p.Lys341Ter,ENST00000341757,;SCIN,downstream_gene_variant,,ENST00000476649,;							HIGH	1021/2148	K341*	ADSV_HUMAN			Transcript			.	ENSP00000297029		CCDS47545.1			1	
LRP12	0	LGGM	GRCh37	8	105503268	105503268	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	39	19	.	.	ENST00000276654.5:c.2213G>A	p.Arg738His	p.R738H	ENST00000276654	NM_013437.4	738	cGc/cAc	0	1	1	UPI0000047A9F	0	NA	ENST00000276654		ENSG00000147650	31708		58	0.345		HGNC	p.R719H	rs769026523	LRP12		SNV				0.000192			ENST00000424843	protein_coding	getma.org/?cm=var&var=hg19,8,105503268,C,T&fts=all		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216		R/H		T	neutral	2322/4112		getma.org/?cm=msa&ty=f&p=LRP12_HUMAN&rb=609&re=857&var=R738H	tolerated(0.25)	E5RIW8_HUMAN,B3KWZ8_HUMAN			YES	LRP12,missense_variant,p.Arg738His,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Arg719His,ENST00000424843,NM_001135703.2;LRP12,downstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000518375,;LRP12,downstream_gene_variant,,ENST00000522046,;							MODERATE	2213/2580	R738H	LRP12_HUMAN			Transcript		benign(0.013)	.	ENSP00000276654	1.65E-05	CCDS6303.1			1	
CLSTN2	0	LGGM	GRCh37	3	140123434	140123434	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	26	20	.	.	ENST00000458420.3:c.463G>A	p.Glu155Lys	p.E155K	ENST00000458420	NM_022131.2	155	Gag/Aag	0	1	1	UPI00001B0051	0	NA	ENST00000458420		ENSG00000158258	17448		46	2.8		HGNC	p.E155K	rs774984260	CLSTN2		SNV				9.61E-05			ENST00000458420	protein_coding	getma.org/?cm=var&var=hg19,3,140123434,G,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		E/K		A	medium	653/14202		getma.org/?cm=msa&ty=f&p=CSTN2_HUMAN&rb=44&re=160&var=E155K	deleterious(0.02)	B3KUA5_HUMAN,B3KU27_HUMAN			YES	CLSTN2,missense_variant,p.Glu155Lys,ENST00000458420,NM_022131.2;AC092988.1,downstream_gene_variant,,ENST00000580582,;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;							MODERATE	463/2868	E155K	CSTN2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000402460	8.24E-06	CCDS3112.1			1	
NUP205	0	LGGM	GRCh37	7	135292065	135292065	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	18	20	.	.	ENST00000285968.6:c.3141A>G	p.Arg1047=	p.R1047=	ENST00000285968	NM_015135.2	1047	agA/agG	0	1	1	UPI00001D74D8	0		ENST00000285968		ENSG00000155561	18658		38			HGNC	p.R1047R		NUP205		SNV							ENST00000285968	protein_coding			hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894		R		G		3167/6266				Q6P486_HUMAN,Q6DKH1_HUMAN			YES	NUP205,synonymous_variant,p.=,ENST00000285968,NM_015135.2;NUP205,synonymous_variant,p.=,ENST00000472132,;NUP205,synonymous_variant,p.=,ENST00000463247,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;							LOW	3141/6039		NU205_HUMAN			Transcript			.	ENSP00000285968		CCDS34759.1			1	
ARPC5	0	LGGM	GRCh37	1	183592597	183592597	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	9	20	.	.				ENST00000294742	NM_001270439.1			0	1		UPI000004180C	0		ENST00000359856		ENSG00000162704	708		29		2755	HGNC	p.V135L		ARPC5		SNV							ENST00000367534	protein_coding							G		-/1838								ARPC5,missense_variant,p.Val135Leu,ENST00000367534,;ARPC5,downstream_gene_variant,,ENST00000359856,NM_005717.3;ARPC5,downstream_gene_variant,,ENST00000294742,NM_001270439.1;RP1-127C7.6,upstream_gene_variant,,ENST00000602484,;ARPC5,downstream_gene_variant,,ENST00000462965,;							MODIFIER	-/456		ARPC5_HUMAN			Transcript			.	ENSP00000352918		CCDS1357.1			1	
GRM3	0	LGGM	GRCh37	7	86416370	86416370	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	54	20	.	.	ENST00000361669.2:c.1262C>T	p.Ala421Val	p.A421V	ENST00000361669	NM_000840.2	421	gCt/gTt	0	1	1	UPI0000153EFC	0	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=A421V	ENST00000361669		ENSG00000198822	4595		74	2.205		HGNC	p.A419V		GRM3		SNV							ENST00000394720	protein_coding	getma.org/?cm=var&var=hg19,7,86416370,C,T&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,Superfamily_domains:SSF53822		A/V		T	medium	2361/4268		getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=A421V	tolerated(0.16)	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN			YES	GRM3,missense_variant,p.Ala421Val,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Ala293Val,ENST00000536043,;GRM3,missense_variant,p.Ala419Val,ENST00000394720,;GRM3,missense_variant,p.Ala421Val,ENST00000439827,;GRM3,intron_variant,,ENST00000546348,;GRM3,downstream_gene_variant,,ENST00000454217,;AC005009.2,upstream_gene_variant,,ENST00000452471,;AC005009.2,upstream_gene_variant,,ENST00000418031,;							MODERATE	1262/2640	A421V	GRM3_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000355316		CCDS5600.1			1	
IFNA14	0	LGGM	GRCh37	9	21239864	21239864	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	51	20	.	.	ENST00000380222.2:c.71G>T	p.Cys24Phe	p.C24F	ENST00000380222	NM_002172.2	24	tGt/tTt	0	1	1	UPI00000541D5	0	getma.org/pdb.php?prot=IFN14_HUMAN&from=1&to=25&var=C24F	ENST00000380222		ENSG00000228083	5420		71	3.645		HGNC	p.C24F		IFNA14		SNV							ENST00000380222	protein_coding	getma.org/?cm=var&var=hg19,9,21239864,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266		C/F		A	high	115/778		getma.org/?cm=msa&ty=f&p=IFN14_HUMAN&rb=1&re=55&var=C24F	deleterious(0)				YES	IFNA14,missense_variant,p.Cys24Phe,ENST00000380222,NM_002172.2;							MODERATE	71/570	C24F	IFN14_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000369571		CCDS6501.1			1	
TPBG	0	LGGM	GRCh37	6	83075246	83075246	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	51	21	.	.	ENST00000369750.3:c.568C>T	p.Arg190Trp	p.R190W	ENST00000369750		190	Cgg/Tgg	0	1	1	UPI000004CAD5	0	NA	ENST00000369750		ENSG00000146242	12004		72	0		HGNC	p.R190W		TPBG		SNV							ENST00000543496	protein_coding	getma.org/?cm=var&var=hg19,6,83075246,C,T&fts=all		hmmpanther:PTHR24364,Superfamily_domains:SSF52058		R/W		T	neutral	1185/6484		getma.org/?cm=msa&ty=f&p=TPBG_HUMAN&rb=168&re=209&var=R190W	tolerated(0.19)	A8K555_HUMAN			YES	TPBG,missense_variant,p.Arg190Trp,ENST00000369750,;TPBG,missense_variant,p.Arg190Trp,ENST00000535040,NM_006670.4;TPBG,missense_variant,p.Arg190Trp,ENST00000543496,NM_001166392.1;							MODERATE	568/1263	R190W	TPBG_HUMAN			Transcript		benign(0.001)	.	ENSP00000358765		CCDS4995.1			1	
MARCH10	0	LGGM	GRCh37	17	60802414	60802414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	20	21	.	.	ENST00000311269.5:c.1989G>T	p.Gln663His	p.Q663H	ENST00000311269	NM_152598.2	663	caG/caT	0	1	1	UPI000013F13A	0	getma.org/pdb.php?prot=MARHA_HUMAN&from=659&to=714&var=Q663H	ENST00000311269		ENSG00000173838	26655		41	0.705		HGNC	p.Q663H		MARCH10		SNV							ENST00000311269	protein_coding	getma.org/?cm=var&var=hg19,17,60802414,C,A&fts=all		PROSITE_profiles:PS51292,hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5,Pfam_domain:PF12906,Gene3D:3.30.40.10,SMART_domains:SM00744,Superfamily_domains:SSF57850		Q/H		A	neutral	2264/3090		getma.org/?cm=msa&ty=f&p=MARHA_HUMAN&rb=659&re=714&var=Q663H	deleterious(0)	J3KTK3_HUMAN			YES	MARCH10,missense_variant,p.Gln662His,ENST00000544856,NM_001288780.1;MARCH10,missense_variant,p.Gln701His,ENST00000583600,NM_001288779.1;MARCH10,missense_variant,p.Gln663His,ENST00000311269,NM_152598.2;MARCH10,missense_variant,p.Gln663His,ENST00000456609,NM_001100875.1;MARCH10,missense_variant,p.Gln531His,ENST00000580520,;MARCH10,intron_variant,,ENST00000579620,;RP11-156L14.1,intron_variant,,ENST00000577270,;RP11-156L14.1,intron_variant,,ENST00000582564,;RP11-156L14.1,intron_variant,,ENST00000579201,;RP11-156L14.1,intron_variant,,ENST00000584597,;							MODERATE	1989/2427	Q663H	MARHA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000311496		CCDS11635.1			1	
GTPBP8	0	LGGM	GRCh37	3	112710132	112710132	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	24	21	.	.	ENST00000383678.2:c.286G>A	p.Val96Ile	p.V96I	ENST00000383678	NM_014170.2	96	Gtc/Atc	0	1	1	UPI00000732BA	0	NA	ENST00000383678		ENSG00000163607	25007		45	1.59		HGNC	p.V96I	rs745459579	GTPBP8		SNV							ENST00000383678	protein_coding	getma.org/?cm=var&var=hg19,3,112710132,G,A&fts=all		HAMAP:MF_00321,hmmpanther:PTHR11649,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR03598		V/I		A	low	368/1360	1.56E-05	getma.org/?cm=msa&ty=f&p=GTPB8_HUMAN&rb=1&re=111&var=V96I	tolerated(0.18)	C9J0K3_HUMAN			YES	GTPBP8,missense_variant,p.Val96Ile,ENST00000383677,NM_138485.1;GTPBP8,missense_variant,p.Val96Ile,ENST00000383678,NM_014170.2;GTPBP8,upstream_gene_variant,,ENST00000473129,;GTPBP8,upstream_gene_variant,,ENST00000467752,;RP11-484K9.4,upstream_gene_variant,,ENST00000609673,;GTPBP8,missense_variant,p.Val96Ile,ENST00000485330,;GTPBP8,missense_variant,p.Val81Ile,ENST00000488781,;GTPBP8,missense_variant,p.Val96Ile,ENST00000295864,;							MODERATE	286/855	V96I	GTPB8_HUMAN			Transcript		benign(0.009)	.	ENSP00000373176	8.25E-06	CCDS33820.1			1	
SMG5	0	LGGM	GRCh37	1	156235910	156235910	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	49	21	.	.	ENST00000361813.5:c.1517C>T	p.Thr506Met	p.T506M	ENST00000361813	NM_015327.2	506	aCg/aTg	0	1	1	UPI0000050C24	0	NA	ENST00000361813		ENSG00000198952	24644	8.64E-05	70	0.695		HGNC	p.T506M	rs772301844,COSM4023224	SMG5		SNV				0.000481		0,1	ENST00000361813	protein_coding	getma.org/?cm=var&var=hg19,1,156235910,G,A&fts=all		hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1		T/M		A	neutral	1662/4559		getma.org/?cm=msa&ty=f&p=SMG5_HUMAN&rb=434&re=567&var=T506M	deleterious(0)				YES	SMG5,missense_variant,p.Thr506Met,ENST00000361813,NM_015327.2;SMG5,intron_variant,,ENST00000368267,;SMG5,downstream_gene_variant,,ENST00000489907,;					0,1		MODERATE	1517/3051	T506M	SMG5_HUMAN			Transcript		possibly_damaging(0.495)	common_variant	ENSP00000355261	4.94E-05	CCDS1137.1			1	
SPNS1	0	LGGM	GRCh37	16	28994180	28994180	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	29	22	.	.	ENST00000311008.11:c.1158T>G	p.Ile386Met	p.I386M	ENST00000311008	NM_032038.2	386	atT/atG	0	1	1	UPI000004DB99	0	NA	ENST00000311008		ENSG00000169682	30621		51	0.995		HGNC	p.I386M		SPNS1		SNV							ENST00000311008	protein_coding	getma.org/?cm=var&var=hg19,16,28994180,T,G&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24001,hmmpanther:PTHR24001:SF3,Superfamily_domains:SSF103473		I/M		G	low	1535/2208		getma.org/?cm=msa&ty=f&p=SPNS1_HUMAN&rb=65&re=435&var=I386M	deleterious(0)	H3BT44_HUMAN,H3BP14_HUMAN			YES	SPNS1,missense_variant,p.Ile386Met,ENST00000311008,NM_032038.2;SPNS1,missense_variant,p.Ile313Met,ENST00000323081,NM_001142450.1;SPNS1,missense_variant,p.Ile334Met,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Ile431Met,ENST00000565975,NM_001142448.1;SPNS1,missense_variant,p.Ile312Met,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Ile380Met,ENST00000566059,;SPNS1,missense_variant,p.Ile37Met,ENST00000568829,;SPNS1,intron_variant,,ENST00000564476,;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,;LAT,upstream_gene_variant,,ENST00000354453,;SPNS1,downstream_gene_variant,,ENST00000568388,;LAT,upstream_gene_variant,,ENST00000570232,;RP11-264B17.4,upstream_gene_variant,,ENST00000567209,;LAT,upstream_gene_variant,,ENST00000563964,;SPNS1,downstream_gene_variant,,ENST00000561868,;RP11-264B17.3,splice_region_variant,,ENST00000569969,;LAT,upstream_gene_variant,,ENST00000564447,;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,;							MODERATE	1158/1587	I386M	SPNS1_HUMAN			Transcript		possibly_damaging(0.466)	.	ENSP00000309945		CCDS10646.1			1	
IGDCC4	0	LGGM	GRCh37	15	65680855	65680855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	33	22	.	.	ENST00000352385.2:c.2777G>T	p.Arg926Leu	p.R926L	ENST00000352385	NM_020962.1	926	cGc/cTc	0	1	1	UPI000006F31C	0	getma.org/pdb.php?prot=IGDC4_HUMAN&from=849&to=935&var=R926L	ENST00000352385		ENSG00000103742	13770		55	1.15		HGNC	p.R926L		IGDCC4		SNV							ENST00000352385	protein_coding	getma.org/?cm=var&var=hg19,15,65680855,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF40,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/L		A	low	2987/6508		getma.org/?cm=msa&ty=f&p=IGDC4_HUMAN&rb=849&re=935&var=R926L	tolerated(0.11)				YES	IGDCC4,missense_variant,p.Arg926Leu,ENST00000352385,NM_020962.1;IGDCC4,upstream_gene_variant,,ENST00000558048,;IGDCC4,non_coding_transcript_exon_variant,,ENST00000559327,;IGDCC4,upstream_gene_variant,,ENST00000560319,;IGDCC4,upstream_gene_variant,,ENST00000561309,;							MODERATE	2777/3753	R926L	IGDC4_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000319623		CCDS10206.1			1	
RP11-71H17.7	0	LGGM	GRCh37	3	124438173	124438173	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	41	23	.	.				ENST00000568966				0	1	1		0	NA	ENST00000568966		ENSG00000260391			64	1.7	4462	Clone_based_vega_gene	p.Q1210H		RP11-71H17.7		SNV							ENST00000428018	sense_overlapping	getma.org/?cm=var&var=hg19,3,124438173,G,T&fts=all						T	low	-/2538		getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=2938&re=2985&var=Q2938H					YES	KALRN,missense_variant,p.Gln1242His,ENST00000291478,NM_007064.3;KALRN,missense_variant,p.Gln2939His,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Gln2908His,ENST00000354186,;KALRN,missense_variant,p.Gln1210His,ENST00000428018,;RP11-71H17.7,upstream_gene_variant,,ENST00000568966,;							MODIFIER		Q2938H				Transcript			.						1	
IAH1	0	LGGM	GRCh37	2	9621534	9621534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	1	23	.	.	ENST00000497473.1:c.403C>A	p.Pro135Thr	p.P135T	ENST00000497473	NM_001039613.1	135	Cca/Aca	0	1	1	UPI00000382E7	0	getma.org/pdb.php?prot=IAH1_HUMAN&from=18&to=212&var=P135T	ENST00000497473		ENSG00000134330	27696		24	2.855		HGNC	p.P22T		IAH1		SNV							ENST00000482918	protein_coding	getma.org/?cm=var&var=hg19,2,9621534,C,A&fts=all		Gene3D:3.40.50.1110,Pfam_domain:PF00657,hmmpanther:PTHR14209,Superfamily_domains:SSF52266		P/T		A	medium	440/1266		getma.org/?cm=msa&ty=f&p=IAH1_HUMAN&rb=18&re=212&var=P135T	deleterious(0)	C9JDY4_HUMAN,C9J5J2_HUMAN,B4DMV3_HUMAN			YES	IAH1,missense_variant,p.Pro22Thr,ENST00000470914,;IAH1,missense_variant,p.Pro135Thr,ENST00000497473,NM_001039613.1;IAH1,missense_variant,p.Pro22Thr,ENST00000545602,;IAH1,missense_variant,p.Pro115Thr,ENST00000481367,;IAH1,missense_variant,p.Pro110Thr,ENST00000481688,;IAH1,missense_variant,p.Pro22Thr,ENST00000482918,;IAH1,missense_variant,p.Pro22Thr,ENST00000496603,;IAH1,missense_variant,p.Pro22Thr,ENST00000495797,;IAH1,non_coding_transcript_exon_variant,,ENST00000489468,;IAH1,non_coding_transcript_exon_variant,,ENST00000495494,;IAH1,non_coding_transcript_exon_variant,,ENST00000487850,;IAH1,3_prime_UTR_variant,,ENST00000351760,;IAH1,3_prime_UTR_variant,,ENST00000492223,;IAH1,non_coding_transcript_exon_variant,,ENST00000495050,;IAH1,non_coding_transcript_exon_variant,,ENST00000484826,;							MODERATE	403/747	P135T	IAH1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000417580		CCDS42651.1			1	
SNRPA	0	LGGM	GRCh37	19	41265470	41265470	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	4	24	.	.	ENST00000243563.3:c.381C>T	p.Gly127=	p.G127=	ENST00000243563	NM_004596.4	127	ggC/ggT	0	1	1	UPI000002C8F2	0		ENST00000243563		ENSG00000077312	11151		28			HGNC	p.G127G	rs374319458	SNRPA		SNV							ENST00000597353	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10501		G		T		931/1621				M0R2B8_HUMAN,M0R221_HUMAN,M0QZG7_HUMAN			YES	SNRPA,synonymous_variant,p.=,ENST00000243563,NM_004596.4;SNRPA,synonymous_variant,p.=,ENST00000601393,;SNRPA,synonymous_variant,p.=,ENST00000601545,;SNRPA,synonymous_variant,p.=,ENST00000599362,;SNRPA,synonymous_variant,p.=,ENST00000597353,;SNRPA,synonymous_variant,p.=,ENST00000601253,;SNRPA,non_coding_transcript_exon_variant,,ENST00000599570,;SNRPA,3_prime_UTR_variant,,ENST00000600456,;SNRPA,non_coding_transcript_exon_variant,,ENST00000598923,;SNRPA,non_coding_transcript_exon_variant,,ENST00000598452,;SNRPA,upstream_gene_variant,,ENST00000596860,;							LOW	381/849		SNRPA_HUMAN			Transcript			.	ENSP00000243563		CCDS12565.1			1	
PHC3	0	LGGM	GRCh37	3	169866951	169866951	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	44	24	.	.	ENST00000495893.2:c.496C>T	p.Gln166Ter	p.Q166*	ENST00000495893	NM_024947.3	166	Caa/Taa	0	1		UPI000006D99D	0	NA	ENST00000494943		ENSG00000173889	15682		68	0		HGNC	p.Q150X		PHC3		SNV							ENST00000474275	protein_coding	getma.org/?cm=var&var=hg19,3,169866951,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12247:SF20,hmmpanther:PTHR12247		Q/*		A	NA	529/5030		NA						PHC3,stop_gained,p.Gln166Ter,ENST00000495893,NM_024947.3;PHC3,stop_gained,p.Gln154Ter,ENST00000494943,;PHC3,stop_gained,p.Gln150Ter,ENST00000474275,;PHC3,stop_gained,p.Gln166Ter,ENST00000475729,;PHC3,intron_variant,,ENST00000467570,;PHC3,intron_variant,,ENST00000484931,;PHC3,intron_variant,,ENST00000466189,;PHC3,downstream_gene_variant,,ENST00000465896,;RNU6-315P,upstream_gene_variant,,ENST00000362666,;PHC3,missense_variant,p.Pro160Leu,ENST00000479467,;PHC3,3_prime_UTR_variant,,ENST00000472330,;							HIGH	460/2952	Q154*	PHC3_HUMAN			Transcript			.	ENSP00000420271					1	
SPERT	0	LGGM	GRCh37	13	46287567	46287567	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	23	25	.	.	ENST00000310521.1:c.407T>C	p.Val136Ala	p.V136A	ENST00000310521	NM_152719.1	136	gTa/gCa	0	1	1	UPI0000070F5F	0	NA	ENST00000310521		ENSG00000174015	30720		48	1.445		HGNC	p.V109A		SPERT		SNV							ENST00000533564	protein_coding	getma.org/?cm=var&var=hg19,13,46287567,T,C&fts=all		Pfam_domain:PF14645,hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF13		V/A		C	low	487/1613		getma.org/?cm=msa&ty=f&p=SPERT_HUMAN&rb=1&re=150&var=V136A	tolerated(0.06)				YES	SPERT,missense_variant,p.Val100Ala,ENST00000378966,NM_001286342.1;SPERT,missense_variant,p.Val136Ala,ENST00000310521,NM_152719.1;SPERT,missense_variant,p.Val109Ala,ENST00000533564,;							MODERATE	407/1347	V136A	SPERT_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000309189		CCDS9399.1			1	
THAP5	0	LGGM	GRCh37	7	108205235	108205235	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	55	25	.	.	ENST00000415914.3:c.588T>C	p.Cys196=	p.C196=	ENST00000415914	NM_001130475.1	196	tgT/tgC	0	1	1	UPI00003E4106	0		ENST00000415914		ENSG00000177683	23188		80			HGNC	p.C196C		THAP5		SNV							ENST00000415914	protein_coding			hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF64		C		G		742/3306							YES	THAP5,synonymous_variant,p.=,ENST00000415914,NM_001130475.1;THAP5,synonymous_variant,p.=,ENST00000313516,NM_182529.3;THAP5,3_prime_UTR_variant,,ENST00000438865,;DNAJB9,upstream_gene_variant,,ENST00000249356,NM_012328.2;THAP5,non_coding_transcript_exon_variant,,ENST00000493722,;PNPLA8,intron_variant,,ENST00000489738,;THAP5,intron_variant,,ENST00000468884,;THAP5,downstream_gene_variant,,ENST00000412935,;THAP5,downstream_gene_variant,,ENST00000446771,;THAP5,downstream_gene_variant,,ENST00000484452,;							LOW	588/1188		THAP5_HUMAN			Transcript			.	ENSP00000400500		CCDS47687.1			1	
SYCP2	0	LGGM	GRCh37	20	58442767	58442767	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	20	25	.	.	ENST00000357552.3:c.4124A>G	p.Asn1375Ser	p.N1375S	ENST00000357552		1375	aAt/aGt	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		45	0.895		HGNC	p.N1375S	rs746290155	SYCP2		SNV							ENST00000357552	protein_coding	getma.org/?cm=var&var=hg19,20,58442767,T,C&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		N/S		C	low	4350/5567	1.54E-05	getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=401&re=1529&var=N1375S	tolerated(0.15)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Asn1375Ser,ENST00000357552,;SYCP2,missense_variant,p.Asn1375Ser,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Asn61Ser,ENST00000412613,;							MODERATE	4124/4593	N1375S	SYCP2_HUMAN			Transcript		benign(0.085)	.	ENSP00000350162	8.24E-06	CCDS13482.1			1	
TSTD2	0	LGGM	GRCh37	9	100372627	100372627	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	105	25	.	.	ENST00000341170.4:c.835+1G>C		p.X279_splice	ENST00000341170	NM_139246.4			0	1	1	UPI00002114B8	0		ENST00000341170		ENSG00000136925	30087		130			HGNC	p.G53A		TSTD2		SNV							ENST00000375163	protein_coding							G		-/4320							YES	TSTD2,splice_donor_variant,,ENST00000341170,NM_139246.4;TSTD2,intron_variant,,ENST00000354801,;TSTD2,downstream_gene_variant,,ENST00000484708,;TSTD2,splice_donor_variant,,ENST00000375172,;TSTD2,non_coding_transcript_exon_variant,,ENST00000375163,;TSTD2,intron_variant,,ENST00000375165,;							HIGH	835/1551		TSTD2_HUMAN			Transcript			.	ENSP00000342499		CCDS6727.2			1	
ZNF208	0	LGGM	GRCh37	19	22155076	22155076	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	87	25	.	.	ENST00000397126.4:c.2760A>C	p.Glu920Asp	p.E920D	ENST00000397126	NM_007153.3	920	gaA/gaC	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		112			HGNC	p.E920D		ZNF208		SNV							ENST00000397126	protein_coding			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,Superfamily_domains:SSF57667		E/D		G		2909/3992			tolerated(0.51)				YES	ZNF208,missense_variant,p.Glu920Asp,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2760/3843		ZN208_HUMAN			Transcript		unknown(0)	.	ENSP00000380315		CCDS54240.1			1	
OR2M7	0	LGGM	GRCh37	1	248487018	248487018	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	58	26	.	.	ENST00000317965.2:c.853C>T	p.Leu285=	p.L285=	ENST00000317965	NM_001004691.1	285	Ctg/Ttg	0	1	1	UPI000004B236	0		ENST00000317965		ENSG00000177186	19594		84			HGNC	p.L285L		OR2M7		SNV							ENST00000317965	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237		L		A		882/1006							YES	OR2M7,synonymous_variant,p.=,ENST00000317965,NM_001004691.1;							LOW	853/939		OR2M7_HUMAN			Transcript			.	ENSP00000324557		CCDS31111.1			1	
CDC6	0	LGGM	GRCh37	17	38447799	38447799	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	41	26	.	.	ENST00000209728.4:c.539A>T	p.Asp180Val	p.D180V	ENST00000209728	NM_001254.3	180	gAt/gTt	0	1	1	UPI0000073C6C	0	NA	ENST00000209728		ENSG00000094804	1744		67	1.7		HGNC	p.D180V		CDC6		SNV			1				ENST00000580824	protein_coding	getma.org/?cm=var&var=hg19,17,38447799,A,T&fts=all		Superfamily_domains:SSF52540,PIRSF_domain:PIRSF001767,Gene3D:3.40.50.300,hmmpanther:PTHR10763,hmmpanther:PTHR10763:SF23		D/V		T	low	1010/3072		getma.org/?cm=msa&ty=f&p=CDC6_HUMAN&rb=92&re=189&var=D180V	tolerated(0.26)	J3QR52_HUMAN,J3QLN7_HUMAN,J3KTI7_HUMAN			YES	CDC6,missense_variant,p.Asp180Val,ENST00000209728,NM_001254.3;CDC6,missense_variant,p.Asp180Val,ENST00000580824,;CDC6,downstream_gene_variant,,ENST00000473555,;CDC6,downstream_gene_variant,,ENST00000577249,;CDC6,non_coding_transcript_exon_variant,,ENST00000582402,;							MODERATE	539/1683	D180V	CDC6_HUMAN			Transcript		benign(0.007)	.	ENSP00000209728		CCDS11365.1			1	
BLTP1	0	LGGM	GRCh37	4	123178519	123178519	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	53	27	.	.	ENST00000264501.4:c.6488A>G	p.His2163Arg	p.H2163R	ENST00000264501		2163	cAt/cGt	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		80	0		HGNC	p.H2163R		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123178519,A,G&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		H/R		G	neutral	6861/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=2089&re=2288&var=H2163R		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.His2163Arg,ENST00000264501,;KIAA1109,missense_variant,p.His2163Arg,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.His2163Arg,ENST00000455637,;KIAA1109,missense_variant,p.His121Arg,ENST00000419325,;KIAA1109,missense_variant,p.His736Arg,ENST00000446180,;							MODERATE	6488/15018	H2163R	K1109_HUMAN			Transcript		benign(0.201)	.	ENSP00000264501		CCDS43267.1			1	
CDK11A	0	LGGM	GRCh37	1	1654158	1654158	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	22	28	.	.	ENST00000404249.3:c.100C>T	p.Arg34Cys	p.R34C	ENST00000404249	NM_024011.2	34	Cgc/Tgc	0	1		UPI00003664B8	0	NA	ENST00000378633		ENSG00000008128	1730		50	0.975		HGNC	p.R34C	rs376961550	CDK11A		SNV	A:0.0003			0.000195			ENST00000401096	protein_coding	getma.org/?cm=var&var=hg19,1,1654158,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		R/C	A:0	A	low	180/2458		getma.org/?cm=msa&ty=f&p=CD11A_HUMAN&rb=1&re=170&var=R34C	deleterious_low_confidence(0.04)	Q5QPQ9_HUMAN,Q4VBY6_HUMAN,E9PFJ2_HUMAN				CDK11A,missense_variant,p.Arg34Cys,ENST00000378633,;CDK11A,missense_variant,p.Arg34Cys,ENST00000404249,NM_024011.2,NM_033486.1;CDK11A,missense_variant,p.Arg34Cys,ENST00000357760,NM_033492.1;CDK11A,missense_variant,p.Arg34Cys,ENST00000358779,NM_033529.2,NM_033493.1,NM_033488.1;CDK11A,missense_variant,p.Arg34Cys,ENST00000378635,;CDK11A,missense_variant,p.Arg34Cys,ENST00000479362,;CDK11A,missense_variant,p.Arg34Cys,ENST00000401096,;CDK11A,5_prime_UTR_variant,,ENST00000356200,;CDK11A,5_prime_UTR_variant,,ENST00000378638,NM_033489.1;SLC35E2,downstream_gene_variant,,ENST00000355439,NM_001199787.1;SLC35E2,downstream_gene_variant,,ENST00000400924,;RP1-283E3.8,non_coding_transcript_exon_variant,,ENST00000598846,;RP1-283E3.4,upstream_gene_variant,,ENST00000417099,;RP1-283E3.4,upstream_gene_variant,,ENST00000577672,;CDK11A,missense_variant,p.Arg34Cys,ENST00000460465,;CDK11A,missense_variant,p.Arg34Cys,ENST00000509982,;CDK11A,non_coding_transcript_exon_variant,,ENST00000487462,;CDK11A,upstream_gene_variant,,ENST00000356937,;CDK11A,upstream_gene_variant,,ENST00000498810,;							MODERATE	100/2352	R34C	CD11A_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000367900	8.75E-06				1	
WDR52	0	LGGM	GRCh37	3	113082121	113082121	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	37	29	.	.	ENST00000393845.2:c.2805C>A	p.Asp935Glu	p.D935E	ENST00000393845	NM_001164496.1	935	gaC/gaA	0	1		UPI000006D67B	0	NA	ENST00000295868		ENSG00000206530	25631		66	1.445		HGNC	p.D935E		WDR52		SNV							ENST00000295868	protein_coding	getma.org/?cm=var&var=hg19,3,113082121,G,T&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18		D/E		T	low	2968/3377		getma.org/?cm=msa&ty=f&p=WDR52_HUMAN&rb=804&re=982&var=D935E	tolerated(0.2)	C9K0A4_HUMAN				WDR52,missense_variant,p.Asp935Glu,ENST00000393845,NM_001164496.1;WDR52,missense_variant,p.Asp72Glu,ENST00000465636,;WDR52,missense_variant,p.Asp935Glu,ENST00000295868,NM_018338.3;WDR52,missense_variant,p.Asp13Glu,ENST00000490481,;WDR52,3_prime_UTR_variant,,ENST00000488854,;RP11-553D4.2,downstream_gene_variant,,ENST00000462549,;							MODERATE	2805/2949	D935E	WDR52_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000295868		CCDS2972.1			1	
ZNF626	0	LGGM	GRCh37	19	20807907	20807907	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	26	33	.	.	ENST00000601440.1:c.776G>T	p.Cys259Phe	p.C259F	ENST00000601440	NM_001076675.2	259	tGt/tTt	0	1	1	UPI000035E843	0	getma.org/pdb.php?prot=ZN626_HUMAN&from=243&to=266&var=C259F	ENST00000601440		ENSG00000188171	30461		59	3.805		HGNC	p.C259F		ZNF626		SNV							ENST00000601440	protein_coding	getma.org/?cm=var&var=hg19,19,20807907,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/F		A	high	923/5963		getma.org/?cm=msa&ty=f&p=ZN626_HUMAN&rb=223&re=286&var=C259F	deleterious(0)	M0QY39_HUMAN,I0CMK8_HUMAN			YES	ZNF626,missense_variant,p.Cys259Phe,ENST00000601440,NM_001076675.2;ZNF626,downstream_gene_variant,,ENST00000595405,;CTC-513N18.7,intron_variant,,ENST00000595094,;							MODERATE	776/1587	C259F	ZN626_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000469958		CCDS42535.1			1	
KLHL41	0	LGGM	GRCh37	2	170366304	170366304	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	7	33	.	.	ENST00000284669.1:c.16G>C	p.Glu6Gln	p.E6Q	ENST00000284669	NM_006063.2	6	Gaa/Caa	0	1	1	UPI0000000DC5	0	NA	ENST00000284669		ENSG00000239474	16905		40	1.01		HGNC	p.E6Q		KLHL41		SNV			1				ENST00000284669	protein_coding	getma.org/?cm=var&var=hg19,2,170366304,G,C&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,PIRSF_domain:PIRSF037037		E/Q		C	low	93/2464		getma.org/?cm=msa&ty=f&p=KBTBA_HUMAN&rb=1&re=52&var=E6Q	deleterious(0.03)				YES	KLHL41,missense_variant,p.Glu6Gln,ENST00000284669,NM_006063.2;RP11-724O16.1,intron_variant,,ENST00000513963,;BBS5,intron_variant,,ENST00000554017,;BBS5,downstream_gene_variant,,ENST00000295240,NM_152384.2;BBS5,downstream_gene_variant,,ENST00000392663,;KLHL41,upstream_gene_variant,,ENST00000463400,;KLHL41,upstream_gene_variant,,ENST00000480330,;BBS5,downstream_gene_variant,,ENST00000472667,;							MODERATE	16/1821	E6Q	KLH41_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000284669		CCDS2234.1			1	
THSD7A	0	LGGM	GRCh37	7	11500308	11500308	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	34	34	.	.	ENST00000423059.4:c.2586G>A	p.Gly862=	p.G862=	ENST00000423059	NM_015204.2	862	ggG/ggA	0	1	1	UPI00006C0B74	0		ENST00000423059		ENSG00000005108	22207		68			HGNC	p.G862G		THSD7A		SNV							ENST00000423059	protein_coding			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8		G		T		2838/10663							YES	THSD7A,synonymous_variant,p.=,ENST00000423059,NM_015204.2;AC004538.3,intron_variant,,ENST00000445839,;THSD7A,intron_variant,,ENST00000497575,;							LOW	2586/4974		THS7A_HUMAN			Transcript			.	ENSP00000406482		CCDS47543.1			1	
CLEC1A	0	LGGM	GRCh37	12	10233951	10233951	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	36	35	.	.	ENST00000315330.4:c.276A>G	p.Arg92=	p.R92=	ENST00000315330	NM_016511.2	92	agA/agG	0	1	1	UPI00000746EB	0		ENST00000315330		ENSG00000150048	24355		71			HGNC	p.R59R		CLEC1A		SNV							ENST00000457018	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22800:SF154,hmmpanther:PTHR22800		R		C		339/2685				F8WCT4_HUMAN			YES	CLEC1A,synonymous_variant,p.=,ENST00000315330,NM_016511.2;CLEC1A,synonymous_variant,p.=,ENST00000457018,;CLEC1A,intron_variant,,ENST00000420265,;RN7SKP161,upstream_gene_variant,,ENST00000411110,;CLEC1A,3_prime_UTR_variant,,ENST00000544104,;							LOW	276/843		CLC1A_HUMAN			Transcript			.	ENSP00000326407		CCDS8612.1			1	
QARS1	0	LGGM	GRCh37	3	49136950	49136950	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	31	36	.	.	ENST00000306125.6:c.1519G>A	p.Ala507Thr	p.A507T	ENST00000306125	NM_001272073.1	507	Gct/Act	0	1	1	UPI000013661E	0	getma.org/pdb.php?prot=SYQ_HUMAN&from=263&to=563&var=A507T	ENST00000306125		ENSG00000172053	9751		67	0.035		HGNC	p.A496T		QARS		SNV			1				ENST00000414533	protein_coding	getma.org/?cm=var&var=hg19,3,49136950,C,T&fts=all		Gene3D:1.10.1160.10,Pfam_domain:PF00749,hmmpanther:PTHR10119,hmmpanther:PTHR10119:SF17,Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00440		A/T		T	neutral	1857/2763		getma.org/?cm=msa&ty=f&p=SYQ_HUMAN&rb=263&re=563&var=A507T	tolerated(0.14)	Q9H3A5_HUMAN,Q9BUZ3_HUMAN,B4DDN1_HUMAN			YES	QARS,missense_variant,p.Ala507Thr,ENST00000306125,NM_001272073.1,NM_005051.2;QARS,missense_variant,p.Ala496Thr,ENST00000414533,;QARS,missense_variant,p.Ala27Thr,ENST00000453392,;QARS,downstream_gene_variant,,ENST00000420147,;QARS,downstream_gene_variant,,ENST00000452739,;QARS,downstream_gene_variant,,ENST00000417025,;QARS,non_coding_transcript_exon_variant,,ENST00000482468,;QARS,downstream_gene_variant,,ENST00000470225,;QARS,downstream_gene_variant,,ENST00000470619,;QARS,downstream_gene_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000487495,;QARS,upstream_gene_variant,,ENST00000466179,;QARS,upstream_gene_variant,,ENST00000475599,;QARS,3_prime_UTR_variant,,ENST00000430182,;QARS,non_coding_transcript_exon_variant,,ENST00000464962,;QARS,upstream_gene_variant,,ENST00000459870,;QARS,upstream_gene_variant,,ENST00000470113,;QARS,downstream_gene_variant,,ENST00000494838,;QARS,downstream_gene_variant,,ENST00000482261,;QARS,upstream_gene_variant,,ENST00000482248,;QARS,upstream_gene_variant,,ENST00000494984,;QARS,downstream_gene_variant,,ENST00000478561,;QARS,downstream_gene_variant,,ENST00000482438,;QARS,downstream_gene_variant,,ENST00000418549,;QARS,downstream_gene_variant,,ENST00000494767,;QARS,upstream_gene_variant,,ENST00000497635,;							MODERATE	1519/2328	A507T	SYQ_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000307567		CCDS2788.1			1	
FLG	0	LGGM	GRCh37	1	152280977	152280977	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	297	37	.	.	ENST00000368799.1:c.6385T>C	p.Ser2129Pro	p.S2129P	ENST00000368799	NM_002016.1	2129	Tca/Cca	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		334	2.505		HGNC	p.S2129P	COSM3399729	FLG		SNV			1			1	ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152280977,A,G&fts=all				S/P		G	medium	6421/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=2051&re=2200&var=S2129P		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	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,;					1		MODERATE	6385/12186	S2129P	FILA_HUMAN			Transcript		benign(0.307)	.	ENSP00000357789		CCDS30860.1			1	
GPRASP2	0	LGGM	GRCh37	X	101972162	101972162	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	53	39	.	.	ENST00000543253.1:c.2365A>G	p.Asn789Asp	p.N789D	ENST00000543253	NM_001184874.2	789	Aac/Gac	0	1		UPI000006F01A	0	NA	ENST00000332262		ENSG00000158301	25169		92	1.15		HGNC	p.N789D		GPRASP2		SNV							ENST00000543253	protein_coding	getma.org/?cm=var&var=hg19,X,101972162,A,G&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371		N/D		G	low	3221/3720		getma.org/?cm=msa&ty=f&p=GASP2_HUMAN&rb=584&re=838&var=N789D	tolerated(0.06)					GPRASP2,missense_variant,p.Asn789Asp,ENST00000543253,NM_001184874.2,NM_001184876.2,NM_001004051.3;GPRASP2,missense_variant,p.Asn789Asp,ENST00000535209,;GPRASP2,missense_variant,p.Asn789Asp,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,;							MODERATE	2365/2517	N789D	GASP2_HUMAN			Transcript		benign(0.259)	.	ENSP00000339057		CCDS14501.1			1	
OR5H1	0	LGGM	GRCh37	3	97851672	97851672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	60	47	.	.	ENST00000354565.2:c.131G>T	p.Gly44Val	p.G44V	ENST00000354565	NM_001005338.1	44	gGt/gTt	0	1	1	UPI0000197652	0	getma.org/pdb.php?prot=OR5H1_HUMAN&from=1&to=138&var=G44V	ENST00000354565		ENSG00000231192	8346		107	1.385		HGNC	p.G44V		OR5H1		SNV							ENST00000354565	protein_coding	getma.org/?cm=var&var=hg19,3,97851672,G,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262		G/V		T	low	131/942		getma.org/?cm=msa&ty=f&p=OR5H1_HUMAN&rb=1&re=138&var=G44V	deleterious(0.03)				YES	OR5H1,missense_variant,p.Gly44Val,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;							MODERATE	131/942	G44V	OR5H1_HUMAN			Transcript		benign(0.32)	.	ENSP00000346575		CCDS33797.1			1	
RNF2	0	LGGM	GRCh37	1	185067347	185067347	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	24	53	.	.	ENST00000367510.3:c.608C>T	p.Ser203Phe	p.S203F	ENST00000367510	NM_007212.3	203	tCt/tTt	0	1	1	UPI000007131D	0	NA	ENST00000367510		ENSG00000121481	10061	8.64E-05	77	1.355		HGNC	p.S203F	rs781386220	RNF2		SNV							ENST00000453650	protein_coding	getma.org/?cm=var&var=hg19,1,185067347,C,T&fts=all		hmmpanther:PTHR10825,hmmpanther:PTHR10825:SF25		S/F		T	low	896/3606		getma.org/?cm=msa&ty=f&p=RING2_HUMAN&rb=164&re=334&var=S203F	deleterious(0)				YES	RNF2,missense_variant,p.Ser203Phe,ENST00000367510,NM_007212.3;RNF2,missense_variant,p.Ser131Phe,ENST00000367509,;RNF2,missense_variant,p.Ser203Phe,ENST00000453650,;							MODERATE	608/1011	S203F	RING2_HUMAN			Transcript		benign(0.28)	.	ENSP00000356480	8.24E-06	CCDS1365.1			1	
SSX9	0	LGGM	GRCh37	X	48163769	48163769	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	69	54	.	.	ENST00000407081.2:n.164A>G		*55*	ENST00000407081				0	1	1		0		ENST00000407081		ENSG00000204648	19655		123			HGNC	p.D26G		SSX9		SNV							ENST00000407081	transcribed_unprocessed_pseudogene							C		164/654							YES	SSX9,non_coding_transcript_exon_variant,,ENST00000608568,;SSX9,non_coding_transcript_exon_variant,,ENST00000407081,;SSX9,non_coding_transcript_exon_variant,,ENST00000376909,;RP11-344N17.6,upstream_gene_variant,,ENST00000453735,;							MODIFIER						Transcript			.						1	
ASXL3	0	LGGM	GRCh37	18	31319067	31319067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072992	H072992N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	66	55	.	.	ENST00000269197.5:c.1699A>G	p.Thr567Ala	p.T567A	ENST00000269197	NM_030632.1	567	Acc/Gcc	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		121	1.5		HGNC	p.T567A		ASXL3		SNV			1				ENST00000269197	protein_coding	getma.org/?cm=var&var=hg19,18,31319067,A,G&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		T/A		G	low	1699/11344		getma.org/?cm=msa&ty=f&p=ASXL3_HUMAN&rb=368&re=567&var=T567A		K7EQY1_HUMAN			YES	ASXL3,missense_variant,p.Thr567Ala,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;							MODERATE	1699/6747	T567A	ASXL3_HUMAN			Transcript		benign(0.05)	.	ENSP00000269197		CCDS45847.1			1	
TET2	0	LGGM	GRCh37	4	106196424	106196424	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	60	67	.	.	ENST00000380013.4:c.4757C>T	p.Ser1586Leu	p.S1586L	ENST00000380013	NM_001127208.2	1586	tCa/tTa	0	1		UPI00001D75E4	0	NA	ENST00000380013		ENSG00000168769	25941		127	1.87		HGNC	p.S1586L		TET2		SNV			1				ENST00000380013	protein_coding	getma.org/?cm=var&var=hg19,4,106196424,C,T&fts=all		Pfam_domain:PF12851,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3		S/L		T	low	5143/9679		getma.org/?cm=msa&ty=f&p=TET2_HUMAN&rb=1290&re=1905&var=S1586L	deleterious(0.02)	E7EPB1_HUMAN,D6RE87_HUMAN				TET2,missense_variant,p.Ser1586Leu,ENST00000540549,;TET2,missense_variant,p.Ser1607Leu,ENST00000513237,;TET2,missense_variant,p.Ser1586Leu,ENST00000380013,NM_001127208.2;TET2,3_prime_UTR_variant,,ENST00000545826,;TET2,3_prime_UTR_variant,,ENST00000265149,;							MODERATE	4757/6009	S1586L	TET2_HUMAN			Transcript		benign(0.056)	.	ENSP00000369351		CCDS47120.1			1	
NLRP5	0	LGGM	GRCh37	19	56515321	56515321	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H072992	H072992N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	40	75	.	.	ENST00000390649.3:c.302T>A	p.Ile101Asn	p.I101N	ENST00000390649	NM_153447.4	101	aTc/aAc	0	1	1	UPI00001AEEBD	0	getma.org/pdb.php?prot=NALP5_HUMAN&from=61&to=144&var=I101N	ENST00000390649		ENSG00000171487	21269		115	0.975		HGNC	p.I74N		NLRP5		SNV							ENST00000597673	protein_coding	getma.org/?cm=var&var=hg19,19,56515321,T,A&fts=all		PROSITE_profiles:PS50824,hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Pfam_domain:PF02758,Gene3D:1.10.533.10,Superfamily_domains:SSF47986		I/N		A	low	302/3888		getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=61&re=144&var=I101N	deleterious(0)				YES	NLRP5,missense_variant,p.Ile101Asn,ENST00000390649,NM_153447.4;NLRP5,missense_variant,p.Ile74Asn,ENST00000597673,;							MODERATE	302/3603	I101N	NALP5_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000375063		CCDS12938.1			1	
TRAK1	0	LGGM	GRCh37	3	42251726	42251726	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H072992	H072992N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	89	79	.	.	ENST00000327628.5:c.1963+249G>C		*655*	ENST00000327628	NM_001042646.2			0	1	1	UPI0000139F52	0	NA	ENST00000327628		ENSG00000182606	29947		168	0.345		HGNC	p.A680P		TRAK1		SNV							ENST00000341421	protein_coding	getma.org/?cm=var&var=hg19,3,42251726,G,C&fts=all						C	neutral	-/5293		getma.org/?cm=msa&ty=f&p=B7Z218_HUMAN&rb=581&re=667&var=A663P					YES	TRAK1,missense_variant,p.Ala680Pro,ENST00000341421,NM_014965.4,NM_001265608.1;TRAK1,intron_variant,,ENST00000327628,NM_001042646.2;TRAK1,intron_variant,,ENST00000396175,;TRAK1,intron_variant,,ENST00000487159,;							MODIFIER	-/2862	A663P	TRAK1_HUMAN			Transcript			.	ENSP00000328998		CCDS43072.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110523119	110523119	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072992	H072992N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072992N.bam, H072992T.bam	Illumina HiSeq	78	86	.	.	ENST00000378402.5:c.11509C>G	p.Pro3837Ala	p.P3837A	ENST00000378402	NM_177531.4	3837	Cct/Gct	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		164	2.75		HGNC	p.P765A		PKHD1L1		SNV							ENST00000526472	protein_coding	getma.org/?cm=var&var=hg19,8,110523119,C,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		P/A		G	medium	11613/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=3755&re=3954&var=P3837A	deleterious(0)				YES	PKHD1L1,missense_variant,p.Pro3837Ala,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Pro765Ala,ENST00000526472,;							MODERATE	11509/12732	P3837A	PKHL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367655		CCDS47911.1			1	
ROCK1	0	LGGM	GRCh37	18	18535178	18535178	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	5	2	.	.	ENST00000399799.2:c.3541C>A	p.Gln1181Lys	p.Q1181K	ENST00000399799	NM_005406.2	1181	Caa/Aaa	0	1	1	UPI000006F0A4	0	getma.org/pdb.php?prot=ROCK1_HUMAN&from=1119&to=1316&var=Q1181K	ENST00000399799		ENSG00000067900	10251		7	2.415		HGNC	p.Q1181K		ROCK1		SNV							ENST00000399799	protein_coding	getma.org/?cm=var&var=hg19,18,18535178,G,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,PIRSF_domain:PIRSF037568,Superfamily_domains:SSF50729		Q/K		T	medium	4482/9484		getma.org/?cm=msa&ty=f&p=ROCK1_HUMAN&rb=1119&re=1316&var=Q1181K	deleterious(0)				YES	ROCK1,missense_variant,p.Gln1181Lys,ENST00000399799,NM_005406.2;ROCK1,upstream_gene_variant,,ENST00000578051,;ROCK1,non_coding_transcript_exon_variant,,ENST00000584687,;							MODERATE	3541/4065	Q1181K	ROCK1_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000382697		CCDS11870.2			1	
LHX3	0	LGGM	GRCh37	9	139089585	139089585	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	7	2	.	.	ENST00000371746.3:c.795G>T	p.Glu265Asp	p.E265D	ENST00000371746	NM_014564.3	265	gaG/gaT	0	1		UPI000012E65D	0	NA	ENST00000371748		ENSG00000107187	6595		9	0.805		HGNC	p.E260D		LHX3		SNV			1				ENST00000371748	protein_coding	getma.org/?cm=var&var=hg19,9,139089585,C,A&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF65		E/D		A	low	877/2365		getma.org/?cm=msa&ty=f&p=LHX3_HUMAN&rb=215&re=269&var=E260D	tolerated(0.37)	F1T0D5_HUMAN				LHX3,missense_variant,p.Glu265Asp,ENST00000371746,NM_014564.3;LHX3,missense_variant,p.Glu260Asp,ENST00000371748,NM_178138.4;							MODERATE	780/1194	E260D	LHX3_HUMAN			Transcript		benign(0.004)	.	ENSP00000360813		CCDS6994.1			1	
KMT2A	0	LGGM	GRCh37	11	118374726	118374726	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	10	2	.	.	ENST00000534358.1:c.8119C>G	p.Arg2707Gly	p.R2707G	ENST00000534358	NM_005933.3	2707	Cgg/Ggg	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		12	1.15		HGNC	p.R2707G		KMT2A		SNV			1				ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118374726,C,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		R/G		G	low	8110/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=2606&re=2744&var=R2704G		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Arg2707Gly,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Arg2666Gly,ENST00000354520,;KMT2A,missense_variant,p.Arg2704Gly,ENST00000389506,;KMT2A,downstream_gene_variant,,ENST00000528278,;KMT2A,upstream_gene_variant,,ENST00000534085,;							MODERATE	8110/11910	R2704G	KMT2A_HUMAN			Transcript		possibly_damaging(0.522)	.	ENSP00000374157		CCDS31686.1			1	
TRIM17	0	LGGM	GRCh37	1	228602542	228602542	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	12	2	.	.	ENST00000366697.2:c.232C>T	p.Arg78Trp	p.R78W	ENST00000366697		78	Cgg/Tgg	0	1		UPI000000163B	0	getma.org/pdb.php?prot=TRI17_HUMAN&from=66&to=93&var=R78W	ENST00000295033		ENSG00000162931	13430		14	1.675		HGNC	p.R78W		TRIM17		SNV							ENST00000295033	protein_coding	getma.org/?cm=var&var=hg19,1,228602542,G,A&fts=all		hmmpanther:PTHR24103:SF313,hmmpanther:PTHR24103,Gene3D:3.30.40.10,Superfamily_domains:SSF57850		R/W		A	low	363/1730		getma.org/?cm=msa&ty=f&p=TRI17_HUMAN&rb=36&re=123&var=R78W	deleterious(0)	J3KQG0_HUMAN,J3KNZ3_HUMAN,E5RJW6_HUMAN,E5RI62_HUMAN				TRIM17,missense_variant,p.Arg78Trp,ENST00000366697,;TRIM17,missense_variant,p.Arg78Trp,ENST00000366698,NM_016102.3;TRIM17,missense_variant,p.Arg78Trp,ENST00000456946,NM_001134855.1;TRIM17,missense_variant,p.Arg78Trp,ENST00000295033,NM_001024940.2;TRIM17,missense_variant,p.Arg51Trp,ENST00000479800,;TRIM17,missense_variant,p.Arg78Trp,ENST00000355586,;TRIM17,downstream_gene_variant,,ENST00000457345,;TRIM17,downstream_gene_variant,,ENST00000520264,;							MODERATE	232/1434	R78W	TRI17_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000295033		CCDS1571.1			1	
ARHGEF2	0	LGGM	GRCh37	1	155927571	155927571	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	16	2	.	.	ENST00000361247.4:c.1648G>T	p.Glu550Ter	p.E550*	ENST00000361247	NM_001162384.1	550	Gag/Tag	0	1	1	UPI000045892C	0	NA	ENST00000361247		ENSG00000116584	682		18	0		HGNC	p.E550X		ARHGEF2		SNV							ENST00000361247	protein_coding	getma.org/?cm=var&var=hg19,1,155927571,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		E/*		A	NA	1748/4149		NA					YES	ARHGEF2,stop_gained,p.Glu595Ter,ENST00000462460,;ARHGEF2,stop_gained,p.Glu522Ter,ENST00000368316,;ARHGEF2,stop_gained,p.Glu550Ter,ENST00000361247,NM_001162384.1,NM_001162383.1;ARHGEF2,stop_gained,p.Glu522Ter,ENST00000313695,NM_004723.3;ARHGEF2,stop_gained,p.Glu551Ter,ENST00000368315,;ARHGEF2,stop_gained,p.Glu549Ter,ENST00000313667,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000474428,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000470975,;ARHGEF2,downstream_gene_variant,,ENST00000608543,;							HIGH	1648/2961	E550*	ARHG2_HUMAN			Transcript			.	ENSP00000354837		CCDS53376.1			1	
ARID3C	0	LGGM	GRCh37	9	34623986	34623986	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	2	2	.	.	ENST00000378909.2:c.450G>T	p.Leu150=	p.L150=	ENST00000378909	NM_001017363.1	150	ctG/ctT	0	1	1	UPI0000509F06	0		ENST00000378909		ENSG00000205143	21209		4			HGNC	p.L150L		ARID3C		SNV							ENST00000378909	protein_coding			Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR15348,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774		L		A		543/1411							YES	ARID3C,synonymous_variant,p.=,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,;							LOW	450/1239		ARI3C_HUMAN			Transcript			.	ENSP00000368189		CCDS35006.1			1	
MRPL4	0	LGGM	GRCh37	19	10363290	10363290	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	14	2	.	.	ENST00000253099.6:c.188A>G	p.Gln63Arg	p.Q63R	ENST00000253099	NM_146388.1	63	cAg/cGg	0	1	1	UPI0000072264	0	NA	ENST00000253099		ENSG00000105364	14276		16	1.545		HGNC	p.Q63R		MRPL4		SNV							ENST00000253099	protein_coding	getma.org/?cm=var&var=hg19,19,10363290,A,G&fts=all		hmmpanther:PTHR10746,hmmpanther:PTHR10746:SF9		Q/R		G	low	475/1455		getma.org/?cm=msa&ty=f&p=RM04_HUMAN&rb=1&re=79&var=Q63R	deleterious(0.04)	K7ES61_HUMAN,K7EJ73_HUMAN			YES	MRPL4,missense_variant,p.Gln63Arg,ENST00000393733,;MRPL4,missense_variant,p.Gln63Arg,ENST00000253099,NM_146388.1,NM_015956.2;MRPL4,missense_variant,p.Gln63Arg,ENST00000590669,;MRPL4,missense_variant,p.Gln63Arg,ENST00000307422,NM_146387.1;MRPL4,missense_variant,p.Gln63Arg,ENST00000592514,;MRPL4,missense_variant,p.Gln62Arg,ENST00000588502,;MRPL4,missense_variant,p.Gln74Arg,ENST00000590150,;MRPL4,upstream_gene_variant,,ENST00000590702,;CTD-2369P2.5,non_coding_transcript_exon_variant,,ENST00000592893,;MRPL4,missense_variant,p.Gln63Arg,ENST00000591054,;MRPL4,non_coding_transcript_exon_variant,,ENST00000592071,;MRPL4,non_coding_transcript_exon_variant,,ENST00000588963,;							MODERATE	188/936	Q63R	RM04_HUMAN			Transcript		benign(0.103)	.	ENSP00000253099		CCDS12230.1			1	
CAMK2A	0	LGGM	GRCh37	5	149602662	149602662	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	9	2	.	.	ENST00000398376.3:c.1356C>A	p.Gly452=	p.G452=	ENST00000398376		452	ggC/ggA	0	1		UPI00001678B1	0		ENST00000348628		ENSG00000070808	1460		11			HGNC	p.G452G		CAMK2A		SNV							ENST00000398376	protein_coding			hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347,Pfam_domain:PF08332,Gene3D:3.10.450.50,Superfamily_domains:SSF54427		G		T		1989/5322				Q7LDD5_HUMAN,D6RHX9_HUMAN,D6RFJ0_HUMAN				CAMK2A,synonymous_variant,p.=,ENST00000348628,NM_171825.2,NM_015981.3;CAMK2A,synonymous_variant,p.=,ENST00000398376,;SLC6A7,downstream_gene_variant,,ENST00000524041,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000351010,;							LOW	1323/1437		KCC2A_HUMAN			Transcript			.	ENSP00000261793		CCDS43386.1			1	
ANKRD62	0	LGGM	GRCh37	18	12124205	12124205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	3	2	.	.	ENST00000587848.2:c.1524G>T	p.Glu508Asp	p.E508D	ENST00000587848		508	gaG/gaT	0	1	1	UPI0000DD848C	0	NA	ENST00000587848		ENSG00000181626	35241		5	1.28		HGNC	p.E494D		ANKRD62		SNV							ENST00000314074	protein_coding	getma.org/?cm=var&var=hg19,18,12124205,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147		E/D		T	low	1689/2919		getma.org/?cm=msa&ty=f&p=ANR62_HUMAN&rb=445&re=915&var=E508D	deleterious(0)	K7EQA3_HUMAN,J3QTZ2_HUMAN			YES	ANKRD62,missense_variant,p.Glu494Asp,ENST00000314074,NM_001277333.1;ANKRD62,missense_variant,p.Glu508Asp,ENST00000587848,;ANKRD62,non_coding_transcript_exon_variant,,ENST00000418274,;							MODERATE	1524/2754	E508D	ANR62_HUMAN			Transcript		benign(0.05)	.	ENSP00000467740		CCDS67439.1			1	
CBLC	0	LGGM	GRCh37	19	45296743	45296743	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	5	2	.	.	ENST00000270279.3:c.1150C>A	p.Gln384Lys	p.Q384K	ENST00000270279	NM_012116.3	384	Cag/Aag	0	1	1	UPI000013D87E	0	getma.org/pdb.php?prot=CBLC_HUMAN&from=347&to=396&var=Q384K	ENST00000270279		ENSG00000142273	15961		7	0.255		HGNC	p.Q384K		CBLC		SNV							ENST00000270279	protein_coding	getma.org/?cm=var&var=hg19,19,45296743,C,A&fts=all		Superfamily_domains:SSF57850,SMART_domains:SM00184,Pfam_domain:PF13920,Gene3D:3.30.40.10,hmmpanther:PTHR23007:SF1,hmmpanther:PTHR23007,PROSITE_profiles:PS50089		Q/K		A	neutral	1213/1579		getma.org/?cm=msa&ty=f&p=CBLC_HUMAN&rb=347&re=396&var=Q384K	tolerated(0.08)				YES	CBLC,missense_variant,p.Gln384Lys,ENST00000270279,NM_012116.3;CBLC,missense_variant,p.Gln338Lys,ENST00000341505,NM_001130852.1;							MODERATE	1150/1425	Q384K	CBLC_HUMAN			Transcript		benign(0.01)	.	ENSP00000270279		CCDS12643.1			1	
FCHO2	0	LGGM	GRCh37	5	72333013	72333013	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	16	2	.	.	ENST00000430046.2:c.885C>G	p.Ile295Met	p.I295M	ENST00000430046	NM_138782.2	295	atC/atG	0	1	1	UPI000019971A	0	NA	ENST00000430046		ENSG00000157107	25180		18	1.65		HGNC	p.I295M		FCHO2		SNV							ENST00000430046	protein_coding	getma.org/?cm=var&var=hg19,5,72333013,C,G&fts=all		hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF8		I/M		G	low	1001/4981		getma.org/?cm=msa&ty=f&p=FCHO2_HUMAN&rb=295&re=494&var=I295M	deleterious(0.02)	B4DEU7_HUMAN			YES	FCHO2,missense_variant,p.Ile295Met,ENST00000430046,NM_138782.2,NM_001146032.1;FCHO2,missense_variant,p.Ile295Met,ENST00000341845,;FCHO2,missense_variant,p.Ile262Met,ENST00000512348,;FCHO2,missense_variant,p.Ile295Met,ENST00000287761,;FCHO2,non_coding_transcript_exon_variant,,ENST00000511264,;							MODERATE	885/2433	I295M	FCHO2_HUMAN			Transcript		benign(0.396)	.	ENSP00000393776		CCDS47230.1			1	
TP53	0	LGGM	GRCh37	17	7574034	7574034	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	9	3	.	.	ENST00000269305.4:c.994-1G>A		p.X332_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305	pathogenic	ENSG00000141510	11998		12			HGNC	-	rs587782272,TP53_g.16884G>A,COSM69404,COSM674054,COSM2744440	TP53		SNV			1			1,0,1,1,1	ENST00000269305	protein_coding							T		-/2579				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			YES	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,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,splice_acceptor_variant,,ENST00000510385,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;					0,0,1,1,1		HIGH	994/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
NRG4	0	LGGM	GRCh37	15	76301541	76301541	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	35	3	.	.	ENST00000394907.3:c.104G>T	p.Arg35Met	p.R35M	ENST00000394907	NM_138573.3	35	aGg/aTg	0	1	1	UPI0000038134	0	getma.org/pdb.php?prot=NRG4_HUMAN&from=5&to=46&var=R35M	ENST00000394907		ENSG00000169752	29862		38	1.635		HGNC	p.S35I		NRG4		SNV							ENST00000305435	protein_coding	getma.org/?cm=var&var=hg19,15,76301541,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR11100,PROSITE_patterns:PS00022,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196,Prints_domain:PR00009		R/M		A	low	286/1159		getma.org/?cm=msa&ty=f&p=NRG4_HUMAN&rb=5&re=46&var=R35M	deleterious(0.02)	Q68D87_HUMAN,H3BP63_HUMAN			YES	NRG4,missense_variant,p.Arg35Met,ENST00000394907,NM_138573.3;NRG4,missense_variant,p.Arg35Met,ENST00000563910,;NRG4,missense_variant,p.Ser35Ile,ENST00000305435,;NRG4,missense_variant,p.Arg35Met,ENST00000535975,;NRG4,splice_region_variant,,ENST00000568203,;NRG4,missense_variant,p.Ser35Ile,ENST00000461391,;NRG4,missense_variant,p.Arg35Met,ENST00000472094,;NRG4,missense_variant,p.Ser35Ile,ENST00000565661,;NRG4,missense_variant,p.Arg35Met,ENST00000562114,;NRG4,missense_variant,p.Arg35Met,ENST00000568073,;NRG4,missense_variant,p.Arg35Met,ENST00000567126,;NRG4,missense_variant,p.Arg35Met,ENST00000563204,;NRG4,missense_variant,p.Arg35Met,ENST00000566417,;NRG4,missense_variant,p.Arg35Met,ENST00000567936,;NRG4,missense_variant,p.Arg35Met,ENST00000498750,;							MODERATE	104/348	R35M	NRG4_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000378367		CCDS10288.1			1	
CD177	0	LGGM	GRCh37	19	43859932	43859932	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	35	3	.	.	ENST00000457794.2:c.*207G>T		*69*	ENST00000457794				0	1	1	UPI000013C4F9	0	NA	ENST00000457794		ENSG00000204936	30072		38	0		HGNC	p.G167X		CD177		SNV							ENST00000378009	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,19,43859932,G,T&fts=all						T	NA	645/1512		NA					YES	CD177,stop_gained,p.Gly167Ter,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,stop_gained,p.Gly167Ter,ENST00000607517,;							MODIFIER	-/438	G167*	CD177_HUMAN			Transcript			.	ENSP00000388794					1	
TRAF4	0	LGGM	GRCh37	17	27075133	27075133	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	34	3	.	.	ENST00000262395.5:c.399C>A	p.Asp133Glu	p.D133E	ENST00000262395	NM_004295.3	133	gaC/gaA	0	1	1	UPI000006D8C8	0	getma.org/pdb.php?prot=TRAF4_HUMAN&from=102&to=156&var=D133E	ENST00000262395		ENSG00000076604	12034		37	-0.445		HGNC	p.D140E		TRAF4		SNV							ENST00000422344	protein_coding	getma.org/?cm=var&var=hg19,17,27075133,C,A&fts=all		PROSITE_profiles:PS50145,hmmpanther:PTHR10131:SF71,hmmpanther:PTHR10131,Pfam_domain:PF02176,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF49599		D/E		A	neutral	528/2921		getma.org/?cm=msa&ty=f&p=TRAF4_HUMAN&rb=102&re=156&var=D133E	tolerated(0.8)	K7ER49_HUMAN,K7EJG7_HUMAN			YES	TRAF4,missense_variant,p.Asp133Glu,ENST00000262395,NM_004295.3;TRAF4,missense_variant,p.Asp133Glu,ENST00000444415,;TRAF4,missense_variant,p.Asp15Glu,ENST00000584944,;TRAF4,missense_variant,p.Asp133Glu,ENST00000262396,;TRAF4,missense_variant,p.Asp140Glu,ENST00000422344,;TRAF4,missense_variant,p.Asp15Glu,ENST00000473421,;NEK8,downstream_gene_variant,,ENST00000268766,NM_178170.2;AC010761.9,upstream_gene_variant,,ENST00000577325,;AC010761.10,downstream_gene_variant,,ENST00000579468,;TRAF4,missense_variant,p.Asp85Glu,ENST00000454852,;TRAF4,3_prime_UTR_variant,,ENST00000586813,;TRAF4,3_prime_UTR_variant,,ENST00000475329,;TRAF4,non_coding_transcript_exon_variant,,ENST00000469529,;TRAF4,non_coding_transcript_exon_variant,,ENST00000461195,;TRAF4,non_coding_transcript_exon_variant,,ENST00000578917,;TRAF4,downstream_gene_variant,,ENST00000498540,;TRAF4,downstream_gene_variant,,ENST00000478021,;TRAF4,downstream_gene_variant,,ENST00000394925,;TRAF4,upstream_gene_variant,,ENST00000580073,;							MODERATE	399/1413	D133E	TRAF4_HUMAN			Transcript		benign(0.012)	.	ENSP00000262395		CCDS11243.1			1	
MN1	0	LGGM	GRCh37	22	28194037	28194037	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	40	3	.	.	ENST00000302326.4:c.2495G>T	p.Cys832Phe	p.C832F	ENST00000302326	NM_002430.2	832	tGc/tTc	0	1	1	UPI0000207445	0	NA	ENST00000302326		ENSG00000169184	7180		43	0.895		HGNC	p.C832F		MN1		SNV			1				ENST00000302326	protein_coding	getma.org/?cm=var&var=hg19,22,28194037,C,A&fts=all		hmmpanther:PTHR15821		C/F		A	low	3450/7556		getma.org/?cm=msa&ty=f&p=MN1_HUMAN&rb=1&re=1318&var=C832F		A5HML1_HUMAN			YES	MN1,missense_variant,p.Cys832Phe,ENST00000302326,NM_002430.2;MN1,upstream_gene_variant,,ENST00000424656,;							MODERATE	2495/3963	C832F	MN1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000304956		CCDS42998.1			1	
PLEKHM2	0	LGGM	GRCh37	1	16057042	16057042	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	2	3	.	.	ENST00000375799.3:c.2224G>A	p.Val742Met	p.V742M	ENST00000375799	NM_015164.2	742	Gtg/Atg	0	1	1	UPI00001C1D9C	0	NA	ENST00000375799		ENSG00000116786	29131		5	0.805		HGNC	p.V722M	rs531140342	PLEKHM2	0.000167	SNV				0.000601			ENST00000375793	protein_coding	getma.org/?cm=var&var=hg19,1,16057042,G,A&fts=all	A:0	hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF132		V/M		A	low	2451/4122	0.000139	getma.org/?cm=msa&ty=f&p=PKHM2_HUMAN&rb=573&re=770&var=V742M	deleterious(0)		A:0.0014	A:0.003	YES	PLEKHM2,missense_variant,p.Val742Met,ENST00000375799,NM_015164.2;PLEKHM2,missense_variant,p.Val722Met,ENST00000375793,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,non_coding_transcript_exon_variant,,ENST00000477849,;	0.012	A:0.0008					MODERATE	2224/3060	V742M	PKHM2_HUMAN		A:0	Transcript		probably_damaging(0.975)	common_variant	ENSP00000364956	0.000324	CCDS44063.1		A:0	1	
RAPGEF5	0	LGGM	GRCh37	7	22162128	22162128	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	35	3	.	.	ENST00000344041.6:c.2089C>G	p.Pro697Ala	p.P697A	ENST00000344041	NM_012294.3	697	Cca/Gca	0	1		UPI0000072E3E	0	getma.org/pdb.php?prot=RPGF5_HUMAN&from=345&to=579&var=P547A	ENST00000401957		ENSG00000136237	16862		38	0.855		HGNC	p.P697A		RAPGEF5		SNV							ENST00000344041	protein_coding	getma.org/?cm=var&var=hg19,7,22162128,G,C&fts=all		Superfamily_domains:0041591,Gene3D:2ii0A02,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF26,SMART_domains:SM00147		P/A		C	low	1887/6159		getma.org/?cm=msa&ty=f&p=RPGF5_HUMAN&rb=345&re=579&var=P547A	tolerated(0.06)	C9JBS6_HUMAN				RAPGEF5,missense_variant,p.Pro697Ala,ENST00000344041,NM_012294.3;RAPGEF5,missense_variant,p.Pro547Ala,ENST00000401957,;RAPGEF5,downstream_gene_variant,,ENST00000488366,;							MODERATE	1639/1743	P547A	RPGF5_HUMAN			Transcript		benign(0)	.	ENSP00000384044					1	
KRT77	0	LGGM	GRCh37	12	53086344	53086344	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	16	3	.	.	ENST00000341809.3:c.1288G>T	p.Asp430Tyr	p.D430Y	ENST00000341809	NM_175078.2	430	Gac/Tac	0	1	1	UPI00001D797A	0	getma.org/pdb.php?prot=K2C1B_HUMAN&from=163&to=476&var=D430Y	ENST00000341809		ENSG00000189182	20411		19	3.225		HGNC	p.D430Y		KRT77		SNV							ENST00000341809	protein_coding	getma.org/?cm=var&var=hg19,12,53086344,C,A&fts=all		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF87,Superfamily_domains:SSF64593		D/Y		A	medium	1317/3305		getma.org/?cm=msa&ty=f&p=K2C1B_HUMAN&rb=163&re=476&var=D430Y	deleterious(0.01)	F5GY66_HUMAN			YES	KRT77,missense_variant,p.Asp430Tyr,ENST00000341809,NM_175078.2;KRT77,missense_variant,p.Asp197Tyr,ENST00000537195,;RP11-641A6.3,upstream_gene_variant,,ENST00000547533,;KRT77,3_prime_UTR_variant,,ENST00000553168,;KRT77,downstream_gene_variant,,ENST00000550823,;							MODERATE	1288/1737	D430Y	K2C1B_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000342710		CCDS8837.1			1	
DNMT3A	0	LGGM	GRCh37	2	25457164	25457164	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	21	3	.	.	ENST00000264709.3:c.2723A>G	p.Tyr908Cys	p.Y908C	ENST00000264709	NM_175629.2	908	tAt/tGt	0	1	1	UPI000000DA70	0	getma.org/pdb.php?prot=DNM3A_HUMAN&from=777&to=912&var=Y908C	ENST00000264709		ENSG00000119772	2978	8.64E-05	24	2.93		HGNC	p.Y908C	rs780666472	DNMT3A		SNV			1				ENST00000264709	protein_coding	getma.org/?cm=var&var=hg19,2,25457164,T,C&fts=all		PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Superfamily_domains:SSF53335		Y/C		C	medium	3061/4380	4.50E-05	getma.org/?cm=msa&ty=f&p=DNM3A_HUMAN&rb=777&re=912&var=Y908C	deleterious(0)	Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,missense_variant,p.Tyr908Cys,ENST00000264709,NM_175629.2;DNMT3A,missense_variant,p.Tyr908Cys,ENST00000321117,NM_022552.4;DNMT3A,missense_variant,p.Tyr719Cys,ENST00000380746,NM_153759.3;DNMT3A,missense_variant,p.Tyr685Cys,ENST00000402667,;DNMT3A,downstream_gene_variant,,ENST00000474887,;DNMT3A,downstream_gene_variant,,ENST00000461228,;DNMT3A,downstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000491288,;DNMT3A,3_prime_UTR_variant,,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000466601,;							MODERATE	2723/2739	Y908C	DNM3A_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000264709	3.29E-05	CCDS33157.1			1	
RWDD2A	0	LGGM	GRCh37	6	83905337	83905337	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	40	3	.	.	ENST00000369724.4:c.225C>A	p.Thr75=	p.T75=	ENST00000369724	NM_033411.3	75	acC/acA	0	1	1	UPI0000139BF2	0		ENST00000369724		ENSG00000013392	21385		43			HGNC	p.T21T		RWDD2A		SNV							ENST00000539997	protein_coding			PROSITE_profiles:PS50908,hmmpanther:PTHR15955,hmmpanther:PTHR15955:SF2,Pfam_domain:PF05773,Gene3D:3.10.110.10,SMART_domains:SM00591,PIRSF_domain:PIRSF038021,Superfamily_domains:SSF54495		T		A		430/3744							YES	RWDD2A,synonymous_variant,p.=,ENST00000369724,NM_033411.3;RWDD2A,synonymous_variant,p.=,ENST00000539997,;PGM3,upstream_gene_variant,,ENST00000513973,NM_001199918.1,NM_015599.2;PGM3,upstream_gene_variant,,ENST00000283977,;PGM3,upstream_gene_variant,,ENST00000512866,NM_001199919.1;PGM3,upstream_gene_variant,,ENST00000506587,NM_001199917.1;PGM3,upstream_gene_variant,,ENST00000510258,;PGM3,upstream_gene_variant,,ENST00000508748,;PGM3,upstream_gene_variant,,ENST00000503094,;PGM3,upstream_gene_variant,,ENST00000507554,;PGM3,upstream_gene_variant,,ENST00000515333,;PGM3,upstream_gene_variant,,ENST00000505470,;							LOW	225/879		RWD2A_HUMAN			Transcript			.	ENSP00000358739		CCDS4998.1			1	
GPR156	0	LGGM	GRCh37	3	119887123	119887123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	18	3	.	.	ENST00000464295.1:c.1201C>T	p.Pro401Ser	p.P401S	ENST00000464295		401	Cca/Tca	0	1		UPI000004731C	0	NA	ENST00000315843		ENSG00000175697	20844		21	1.245		HGNC	p.P401S		GPR156		SNV							ENST00000315843	protein_coding	getma.org/?cm=var&var=hg19,3,119887123,G,A&fts=all		hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF31		P/S		A	low	1398/4193		getma.org/?cm=msa&ty=f&p=GP156_HUMAN&rb=315&re=514&var=P401S	tolerated(0.12)					GPR156,missense_variant,p.Pro401Ser,ENST00000464295,;GPR156,missense_variant,p.Pro401Ser,ENST00000315843,NM_153002.2,NM_001168271.1;GPR156,missense_variant,p.Pro397Ser,ENST00000461057,;GPR156,3_prime_UTR_variant,,ENST00000495912,;							MODERATE	1201/2445	P401S	GP156_HUMAN			Transcript		benign(0.024)	.	ENSP00000324553		CCDS2997.1			1	
KIAA1244	0	LGGM	GRCh37	6	138655504	138655504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	45	4	.	.	ENST00000251691.4:c.5521C>T	p.Leu1841Phe	p.L1841F	ENST00000251691	NM_020340.4	1841	Ctt/Ttt	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		49	1.59		HGNC	p.L1841F		KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138655504,C,T&fts=all		hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		L/F		T	low	5687/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=1719&re=1918&var=L1841F	deleterious(0)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Leu1841Phe,ENST00000251691,NM_020340.4;							MODERATE	5521/6534	L1841F	BIG3_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000251691		CCDS5189.2			1	
RBBP6	0	LGGM	GRCh37	16	24582883	24582883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	18	4	.	.	ENST00000319715.4:c.4496A>G	p.Asp1499Gly	p.D1499G	ENST00000319715	NM_006910.4	1499	gAc/gGc	0	1	1	UPI00001A96B8	0	NA	ENST00000319715		ENSG00000122257	9889		22	0.805		HGNC	p.D659G	COSM434957	RBBP6		SNV						1	ENST00000381039	protein_coding	getma.org/?cm=var&var=hg19,16,24582883,A,G&fts=all		hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1		D/G		G	low	4928/6229		getma.org/?cm=msa&ty=f&p=RBBP6_HUMAN&rb=1470&re=1669&var=D1499G	deleterious_low_confidence(0)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN			YES	RBBP6,missense_variant,p.Asp1499Gly,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Asp1465Gly,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Asp659Gly,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;					1		MODERATE	4496/5379	D1499G	RBBP6_HUMAN			Transcript		unknown(0)	.	ENSP00000317872		CCDS10621.1			1	
LPCAT4	0	LGGM	GRCh37	15	34654816	34654816	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	10	4	.	.	ENST00000314891.6:c.842A>G	p.Asp281Gly	p.D281G	ENST00000314891	NM_153613.2	281	gAc/gGc	0	1	1	UPI00003D0606	0	NA	ENST00000314891		ENSG00000176454	30059		14	2.485		HGNC	p.D281G		LPCAT4		SNV							ENST00000314891	protein_coding	getma.org/?cm=var&var=hg19,15,34654816,T,C&fts=all		Superfamily_domains:0039877,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7		D/G		C	medium	1020/1975		getma.org/?cm=msa&ty=f&p=LPCT4_HUMAN&rb=233&re=432&var=D281G	deleterious(0.01)	B7ZM32_HUMAN			YES	LPCAT4,missense_variant,p.Asp281Gly,ENST00000314891,NM_153613.2;NUTM1,downstream_gene_variant,,ENST00000537011,NM_001284292.1;NUTM1,downstream_gene_variant,,ENST00000438749,NM_001284293.1;NUTM1,downstream_gene_variant,,ENST00000333756,NM_175741.1;LPCAT4,downstream_gene_variant,,ENST00000562431,;LPCAT4,missense_variant,p.Asp14Gly,ENST00000567507,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000563748,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000563240,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000562404,;LPCAT4,downstream_gene_variant,,ENST00000566581,;LPCAT4,downstream_gene_variant,,ENST00000569804,;							MODERATE	842/1575	D281G	LPCT4_HUMAN			Transcript		benign(0.16)	.	ENSP00000317300		CCDS32191.1			1	
TRAPPC11	0	LGGM	GRCh37	4	184612515	184612515	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	10	4	.	.	ENST00000334690.6:c.1940A>G	p.Glu647Gly	p.E647G	ENST00000334690	NM_021942.5	647	gAa/gGa	0	1	1	UPI000020B774	0	NA	ENST00000334690		ENSG00000168538	25751		14	0.345		HGNC	p.E647G		TRAPPC11		SNV			1				ENST00000357207	protein_coding	getma.org/?cm=var&var=hg19,4,184612515,A,G&fts=all		Pfam_domain:PF07919,hmmpanther:PTHR14374		E/G		G	neutral	2142/4552		getma.org/?cm=msa&ty=f&p=TPC11_HUMAN&rb=601&re=800&var=E647G	tolerated(0.31)				YES	TRAPPC11,missense_variant,p.Glu647Gly,ENST00000334690,NM_021942.5;TRAPPC11,missense_variant,p.Glu647Gly,ENST00000357207,NM_199053.2;TRAPPC11,missense_variant,p.Glu253Gly,ENST00000512476,;TRAPPC11,3_prime_UTR_variant,,ENST00000505676,;							MODERATE	1940/3402	E647G	TPC11_HUMAN			Transcript		benign(0)	.	ENSP00000335371		CCDS34112.1			1	
FLG	0	LGGM	GRCh37	1	152275545	152275545	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	43	4	.	.	ENST00000368799.1:c.11817G>A	p.Ala3939=	p.A3939=	ENST00000368799	NM_002016.1	3939	gcG/gcA	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748		47			HGNC	p.A3939A	rs751206287	FLG		SNV			1	9.61E-05			ENST00000368799	protein_coding					A		T		11853/12747	1.50E-05			Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							LOW	11817/12186		FILA_HUMAN			Transcript			.	ENSP00000357789	1.65E-05	CCDS30860.1			1	
MYOCD	0	LGGM	GRCh37	17	12618883	12618883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	8	4	.	.	ENST00000425538.1:c.169A>G	p.Ser57Gly	p.S57G	ENST00000425538	NM_001146312.1	57	Agt/Ggt	0	1		UPI0000062264	0	getma.org/pdb.php?prot=MYCD_HUMAN&from=1&to=105&var=S57G	ENST00000343344		ENSG00000141052	16067		12	1.5		HGNC	p.S57G		MYOCD		SNV							ENST00000425538	protein_coding	getma.org/?cm=var&var=hg19,17,12618883,A,G&fts=all		hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11		S/G		G	low	169/2817		getma.org/?cm=msa&ty=f&p=MYCD_HUMAN&rb=1&re=105&var=S57G	deleterious(0.02)					MYOCD,missense_variant,p.Ser57Gly,ENST00000425538,NM_001146312.1,NM_153604.2;MYOCD,missense_variant,p.Ser57Gly,ENST00000343344,;MYOCD,upstream_gene_variant,,ENST00000395988,;MYOCD,3_prime_UTR_variant,,ENST00000579237,;							MODERATE	169/2817	S57G	MYCD_HUMAN			Transcript		benign(0.082)	.	ENSP00000341835		CCDS11163.1			1	
GFOD1	0	LGGM	GRCh37	6	13486869	13486869	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	21	5	.	.	ENST00000379287.3:c.253+1G>T		p.X85_splice	ENST00000379287	NM_018988.3			0	1	1	UPI0000072450	0		ENST00000379287		ENSG00000145990	21096		26			HGNC	-		GFOD1		SNV							ENST00000379287	protein_coding							A		-/8751							YES	GFOD1,splice_donor_variant,,ENST00000379287,NM_018988.3;GFOD1,splice_donor_variant,,ENST00000603223,NM_001242629.1;AL583828.1,upstream_gene_variant,,ENST00000558378,;GFOD1-AS1,intron_variant,,ENST00000446001,;GFOD1,upstream_gene_variant,,ENST00000379278,;							HIGH	253/1173		GFOD1_HUMAN			Transcript			.	ENSP00000368589		CCDS4524.1			1	
SPPL2A	0	LGGM	GRCh37	15	51012272	51012272	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	22	5	.	.	ENST00000261854.5:c.1353A>T	p.Thr451=	p.T451=	ENST00000261854	NM_032802.3	451	acA/acT	0	1	1	UPI0000013591	0		ENST00000261854		ENSG00000138600	30227		27			HGNC	p.T451T		SPPL2A		SNV							ENST00000261854	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12174:SF34,hmmpanther:PTHR12174,Pfam_domain:PF04258,SMART_domains:SM00730		T		A		1628/2329				H0YNA7_HUMAN			YES	SPPL2A,synonymous_variant,p.=,ENST00000261854,NM_032802.3;SPPL2A,synonymous_variant,p.=,ENST00000558934,;SPPL2A,downstream_gene_variant,,ENST00000559293,;SPPL2A,downstream_gene_variant,,ENST00000558146,;							LOW	1353/1563		SPP2A_HUMAN			Transcript			.	ENSP00000261854		CCDS10138.1			1	
HIP1	0	LGGM	GRCh37	7	75203081	75203081	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	13	5	.	.	ENST00000336926.6:c.730T>C	p.Phe244Leu	p.F244L	ENST00000336926	NM_005338.6	244	Ttc/Ctc	0	1	1	UPI000013D65F	0	NA	ENST00000336926		ENSG00000127946	4913		18	2.49		HGNC	p.F244L		HIP1		SNV							ENST00000336926	protein_coding	getma.org/?cm=var&var=hg19,7,75203081,A,G&fts=all		Pfam_domain:PF07651,hmmpanther:PTHR10407,hmmpanther:PTHR10407:SF14		F/L		G	medium	757/8013		getma.org/?cm=msa&ty=f&p=HIP1_HUMAN&rb=37&re=309&var=F244L	deleterious(0)	Q8TDA4_HUMAN,B4DYD7_HUMAN,B4DK46_HUMAN			YES	HIP1,missense_variant,p.Phe244Leu,ENST00000336926,NM_005338.6;HIP1,missense_variant,p.Phe244Leu,ENST00000434438,NM_001243198.2;							MODERATE	730/3114	F244L	HIP1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000336747		CCDS34669.1			1	
SPEF2	0	LGGM	GRCh37	5	35740021	35740021	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	22	5	.	.	ENST00000356031.3:c.3064G>A	p.Glu1022Lys	p.E1022K	ENST00000356031	NM_024867.3	1022	Gaa/Aaa	0	1	1	UPI0001505B9F	0	NA	ENST00000356031		ENSG00000152582	26293		27	2.585		HGNC	p.E1022K		SPEF2		SNV							ENST00000356031	protein_coding	getma.org/?cm=var&var=hg19,5,35740021,G,A&fts=all		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0		E/K		A	medium	3218/5681		getma.org/?cm=msa&ty=f&p=SPEF2_HUMAN&rb=964&re=1163&var=E1022K	deleterious(0)				YES	SPEF2,missense_variant,p.Glu1017Lys,ENST00000440995,;SPEF2,missense_variant,p.Glu1022Lys,ENST00000356031,NM_024867.3;CTD-2113L7.1,intron_variant,,ENST00000510433,;							MODERATE	3064/5469	E1022K	SPEF2_HUMAN			Transcript		benign(0.339)	.	ENSP00000348314		CCDS43309.1			1	
ASTN1	0	LGGM	GRCh37	1	176926872	176926872	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	27	5	.	.	ENST00000361833.2:c.1829G>C	p.Gly610Ala	p.G610A	ENST00000361833		610	gGc/gCc	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		32	0.895		HGNC	p.G610A		ASTN1		SNV							ENST00000424564	protein_coding	getma.org/?cm=var&var=hg19,1,176926872,C,G&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8,SMART_domains:SM00181		G/A		G	low	1843/7116		getma.org/?cm=msa&ty=f&p=ASTN1_HUMAN&rb=608&re=652&var=G618A	deleterious(0.02)	Q96BL7_HUMAN			YES	ASTN1,missense_variant,p.Gly618Ala,ENST00000367654,NM_004319.1;ASTN1,missense_variant,p.Gly610Ala,ENST00000361833,;ASTN1,missense_variant,p.Gly610Ala,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Gly610Ala,ENST00000424564,NM_207108.1;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;							MODERATE	1829/3885	G618A	ASTN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354536		CCDS1319.1			1	
KIF5A	0	LGGM	GRCh37	12	57971796	57971796	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	28	5	.	.	ENST00000455537.2:c.2366G>A	p.Arg789Gln	p.R789Q	ENST00000455537	NM_004984.2	789	cGg/cAg	0	1	1	UPI000013DE4C	0	NA	ENST00000455537		ENSG00000155980	6323		33	1.56		HGNC	p.R700Q	rs368469872	KIF5A		SNV	A:0.0002		1				ENST00000286452	protein_coding	getma.org/?cm=var&var=hg19,12,57971796,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317		R/Q	A:0	A	low	2640/5824		getma.org/?cm=msa&ty=f&p=KIF5A_HUMAN&rb=711&re=899&var=R789Q	tolerated(0.17)				YES	KIF5A,missense_variant,p.Arg789Gln,ENST00000455537,NM_004984.2;KIF5A,missense_variant,p.Arg700Gln,ENST00000286452,;KIF5A,upstream_gene_variant,,ENST00000552227,;							MODERATE	2366/3099	R789Q	KIF5A_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000408979		CCDS8945.1			1	
ASAP3	0	LGGM	GRCh37	1	23765328	23765328	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	4	7	.	.	ENST00000336689.3:c.1015-1G>A		p.X339_splice	ENST00000336689	NM_017707.3			0	1	1	UPI0000071371	0		ENST00000336689		ENSG00000088280	14987		11			HGNC	-		ASAP3		SNV							ENST00000336689	protein_coding							T		-/4050				H0YER8_HUMAN			YES	ASAP3,splice_acceptor_variant,,ENST00000336689,NM_017707.3;ASAP3,splice_acceptor_variant,,ENST00000437606,NM_001143778.1;ASAP3,upstream_gene_variant,,ENST00000495646,;ASAP3,splice_acceptor_variant,,ENST00000492982,;ASAP3,splice_acceptor_variant,,ENST00000475814,;ASAP3,non_coding_transcript_exon_variant,,ENST00000530874,;ASAP3,upstream_gene_variant,,ENST00000484418,;ASAP3,downstream_gene_variant,,ENST00000478858,;							HIGH	1015/2712		ASAP3_HUMAN			Transcript			.	ENSP00000338769		CCDS235.1			1	
CECR5	0	LGGM	GRCh37	22	17618945	17618945	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	17	7	.	.	ENST00000336737.4:c.1238T>C	p.Leu413Pro	p.L413P	ENST00000336737	NM_033070.2	413	cTg/cCg	0	1	1	UPI000000D9E5	0	NA	ENST00000336737		ENSG00000069998	1843		24	2.625		HGNC	p.L383P		CECR5		SNV							ENST00000155674	protein_coding	getma.org/?cm=var&var=hg19,22,17618945,A,G&fts=all		hmmpanther:PTHR14269:SF10,hmmpanther:PTHR14269,Gene3D:3.40.50.1000		L/P		G	medium	1264/1799		getma.org/?cm=msa&ty=f&p=CECR5_HUMAN&rb=353&re=423&var=L413P	deleterious(0)				YES	CECR5,missense_variant,p.Leu413Pro,ENST00000336737,NM_033070.2;CECR5,missense_variant,p.Leu383Pro,ENST00000155674,NM_017829.5;CECR5,missense_variant,p.Leu213Pro,ENST00000399852,;CECR5,non_coding_transcript_exon_variant,,ENST00000477157,;CECR5,non_coding_transcript_exon_variant,,ENST00000486462,;							MODERATE	1238/1272	L413P	CECR5_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000337358		CCDS33595.1			1	
TEX56P	0	LGGM	GRCh37	6	4130404	4130404	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	45	7	.	.	ENST00000380175.4:c.411A>C	p.Ser137=	p.S137=	ENST00000380175	NM_001085401.2	137	tcA/tcC	0	1	1	UPI00004573AE	0		ENST00000380175		ENSG00000185689	21620		52			HGNC	p.S140S		C6orf201		SNV							ENST00000333388	protein_coding					S		C		1176/1834							YES	C6orf201,synonymous_variant,p.=,ENST00000380175,NM_001085401.2;C6orf201,synonymous_variant,p.=,ENST00000333388,;ECI2,intron_variant,,ENST00000465828,;ECI2,intron_variant,,ENST00000380118,;ECI2,intron_variant,,ENST00000380125,NM_001166010.1;ECI2,intron_variant,,ENST00000413766,NM_206836.2;ECI2,intron_variant,,ENST00000361538,NM_006117.2;ECI2,intron_variant,,ENST00000495548,;C6orf201,downstream_gene_variant,,ENST00000430835,;C6orf201,non_coding_transcript_exon_variant,,ENST00000496987,;C6orf201,3_prime_UTR_variant,,ENST00000436110,;C6orf201,3_prime_UTR_variant,,ENST00000427996,;C6orf201,3_prime_UTR_variant,,ENST00000451679,;ECI2,intron_variant,,ENST00000464583,;ECI2,intron_variant,,ENST00000464057,;ECI2,intron_variant,,ENST00000380120,;ECI2,intron_variant,,ENST00000496241,;ECI2,intron_variant,,ENST00000478266,;ECI2,downstream_gene_variant,,ENST00000489086,;							LOW	411/423		CF201_HUMAN			Transcript			.	ENSP00000420610		CCDS43419.1			1	
MSX2	0	LGGM	GRCh37	5	174156549	174156549	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	15	7	.	.	ENST00000239243.6:c.767C>T	p.Ala256Val	p.A256V	ENST00000239243	NM_002449.4	256	gCc/gTc	0	1	1	UPI000013CA79	0	NA	ENST00000239243		ENSG00000120149	7392		22	2.005		HGNC	p.A256V		MSX2		SNV			1				ENST00000239243	protein_coding	getma.org/?cm=var&var=hg19,5,174156549,C,T&fts=all		hmmpanther:PTHR24338,hmmpanther:PTHR24338:SF4		A/V		T	medium	894/2241		getma.org/?cm=msa&ty=f&p=MSX2_HUMAN&rb=200&re=267&var=A256V	deleterious(0.01)				YES	MSX2,missense_variant,p.Ala256Val,ENST00000239243,NM_002449.4;MSX2,downstream_gene_variant,,ENST00000507785,;							MODERATE	767/804	A256V	MSX2_HUMAN			Transcript		benign(0.113)	.	ENSP00000239243		CCDS4392.1			1	
PJA2	0	LGGM	GRCh37	5	108679961	108679961	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	13	7	.	.	ENST00000361189.2:c.1931A>G	p.Asp644Gly	p.D644G	ENST00000361189	NM_014819.4	644	gAt/gGt	0	1	1	UPI000013D192	0	getma.org/pdb.php?prot=PJA2_HUMAN&from=632&to=677&var=D644G	ENST00000361189		ENSG00000198961	17481		20	-0.525		HGNC	p.D644G		PJA2		SNV							ENST00000361189	protein_coding	getma.org/?cm=var&var=hg19,5,108679961,T,C&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5,SMART_domains:SM00184,Superfamily_domains:SSF57850		D/G		C	neutral	2171/4889		getma.org/?cm=msa&ty=f&p=PJA2_HUMAN&rb=632&re=677&var=D644G	tolerated(0.22)				YES	PJA2,missense_variant,p.Asp644Gly,ENST00000361189,NM_014819.4;PJA2,missense_variant,p.Asp644Gly,ENST00000361557,;							MODERATE	1931/2127	D644G	PJA2_HUMAN			Transcript		benign(0.203)	.	ENSP00000354775		CCDS4099.1			1	
MON1A	0	LGGM	GRCh37	3	49948227	49948227	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	14	7	.	.	ENST00000296473.3:c.995A>C	p.Glu332Ala	p.E332A	ENST00000296473	NM_032355.3	332	gAg/gCg	0	1	1	UPI0000EE2989	0	NA	ENST00000296473		ENSG00000164077	28207		21	1.395		HGNC	p.E243A		MON1A		SNV							ENST00000417270	protein_coding	getma.org/?cm=var&var=hg19,3,49948227,T,G&fts=all		Pfam_domain:PF03164,Prints_domain:PR01546,hmmpanther:PTHR13027,hmmpanther:PTHR13027:SF14,Low_complexity_(Seg):seg		E/A		G	low	1254/2363		getma.org/?cm=msa&ty=f&p=MON1A_HUMAN&rb=145&re=555&var=E235A	deleterious(0)				YES	MON1A,missense_variant,p.Glu243Ala,ENST00000417270,;MON1A,missense_variant,p.Glu332Ala,ENST00000296473,NM_032355.3;MON1A,missense_variant,p.Glu170Ala,ENST00000455683,NM_001142501.1;CTD-2330K9.3,intron_variant,,ENST00000419183,;MON1A,downstream_gene_variant,,ENST00000483022,;MON1A,downstream_gene_variant,,ENST00000484985,;MON1A,downstream_gene_variant,,ENST00000493206,;CTD-2330K9.3,downstream_gene_variant,,ENST00000424174,;CTD-2330K9.3,downstream_gene_variant,,ENST00000412015,;MON1A,non_coding_transcript_exon_variant,,ENST00000486107,;MON1A,downstream_gene_variant,,ENST00000473451,;							MODERATE	995/1959	E235A				Transcript		probably_damaging(0.99)	.	ENSP00000296473		CCDS2808.2			1	
CEP170	0	LGGM	GRCh37	1	243385046	243385046	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	30	8	.	.	ENST00000366542.1:c.175G>A	p.Asp59Asn	p.D59N	ENST00000366542	NM_014812.2	59	Gat/Aat	0	1	1	UPI0000470238	0	getma.org/pdb.php?prot=CE170_HUMAN&from=23&to=90&var=D59N	ENST00000366542		ENSG00000143702	28920		38	3.475		HGNC	p.D59N		CEP170		SNV							ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243385046,C,T&fts=all		Gene3D:2.60.200.20,Pfam_domain:PF00498,PROSITE_profiles:PS50006,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17,SMART_domains:SM00240,Superfamily_domains:SSF49879		D/N		T	medium	227/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=23&re=90&var=D59N	deleterious(0)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Asp59Asn,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Asp59Asn,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Asp59Asn,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Asp59Asn,ENST00000522995,;CEP170,missense_variant,p.Asp59Asn,ENST00000523424,;CEP170,missense_variant,p.Asp59Asn,ENST00000522191,;AC092782.1,upstream_gene_variant,,ENST00000596590,;CEP170,non_coding_transcript_exon_variant,,ENST00000522522,;CEP170,non_coding_transcript_exon_variant,,ENST00000523581,;							MODERATE	175/4755	D59N	CE170_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355500		CCDS44339.1			1	
BID	0	LGGM	GRCh37	22	18220944	18220944	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	19	8	.	.	ENST00000317361.7:c.553C>G	p.Pro185Ala	p.P185A	ENST00000317361	NM_197966.2	185	Cct/Gct	0	1		UPI0000001637	0	getma.org/pdb.php?prot=BID_HUMAN&from=1&to=195&var=P139A	ENST00000399774		ENSG00000015475	1050		27	2.14		HGNC	p.P43A		BID		SNV							ENST00000399767	protein_coding	getma.org/?cm=var&var=hg19,22,18220944,G,C&fts=all		Gene3D:1.10.437.10,Pfam_domain:PF06393,PIRSF_domain:PIRSF038018,Superfamily_domains:SSF56854		P/A		C	medium	585/2167		getma.org/?cm=msa&ty=f&p=BID_HUMAN&rb=1&re=195&var=P139A	tolerated(0.05)	B2ZP79_HUMAN,B1PL87_HUMAN,A8ASI8_HUMAN				BID,missense_variant,p.Pro185Ala,ENST00000317361,NM_197966.2;BID,missense_variant,p.Pro139Ala,ENST00000399774,NM_001244569.1,NM_001196.3;BID,missense_variant,p.Pro43Ala,ENST00000399767,NM_197967.2;BID,missense_variant,p.Pro43Ala,ENST00000399765,NM_001244570.1;BID,missense_variant,p.Pro139Ala,ENST00000551952,NM_001244567.1;BID,3_prime_UTR_variant,,ENST00000342111,;BID,non_coding_transcript_exon_variant,,ENST00000473439,;BID,downstream_gene_variant,,ENST00000552886,;BID,non_coding_transcript_exon_variant,,ENST00000494097,;BID,non_coding_transcript_exon_variant,,ENST00000550946,;							MODERATE	415/588	P139A	BID_HUMAN			Transcript		benign(0.324)	.	ENSP00000382674		CCDS13748.1			1	
KRBA1	0	LGGM	GRCh37	7	149430368	149430368	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	36	8	.	.	ENST00000255992.10:c.2322C>T	p.Pro774=	p.P774=	ENST00000255992	NM_032534.2	774	ccC/ccT	0	1		UPI0001AE71AF	0		ENST00000319551		ENSG00000133619	22228		44			HGNC	p.P714P		KRBA1		SNV							ENST00000319551	protein_coding			hmmpanther:PTHR22740,Low_complexity_(Seg):seg		P		T		2541/3837				C9J5U6_HUMAN,C4P1W5_HUMAN				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,;							LOW	2142/2910		KRBA1_HUMAN			Transcript			.	ENSP00000317165					1	
PRDM1	0	LGGM	GRCh37	6	106536234	106536234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	69	8	.	.	ENST00000369096.4:c.201G>T	p.Trp67Cys	p.W67C	ENST00000369096	NM_001198.3	67	tgG/tgT	0	1	1	UPI0000D49069	0	getma.org/pdb.php?prot=PRDM1_HUMAN&from=1&to=98&var=W67C	ENST00000369096		ENSG00000057657	9346		77	1.87		HGNC	p.W31C		PRDM1		SNV							ENST00000424894	protein_coding	getma.org/?cm=var&var=hg19,6,106536234,G,T&fts=all		PIRSF_domain:PIRSF013212,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339		W/C		T	low	435/5164		getma.org/?cm=msa&ty=f&p=PRDM1_HUMAN&rb=1&re=98&var=W67C	tolerated(0.08)	Q5T4E8_HUMAN,B2REA5_HUMAN			YES	PRDM1,missense_variant,p.Trp67Cys,ENST00000369096,NM_001198.3;PRDM1,missense_variant,p.Trp31Cys,ENST00000369091,;PRDM1,missense_variant,p.Trp31Cys,ENST00000424894,;PRDM1,non_coding_transcript_exon_variant,,ENST00000489365,;							MODERATE	201/2478	W67C	PRDM1_HUMAN			Transcript		benign(0.002)	.	ENSP00000358092		CCDS5054.2			1	
ZBTB43	0	LGGM	GRCh37	9	129594933	129594933	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	21	8	.	.	ENST00000373464.4:c.145G>C	p.Ala49Pro	p.A49P	ENST00000373464	NM_014007.3	49	Gcc/Ccc	0	1		UPI000013C34F	0	getma.org/pdb.php?prot=ZBT43_HUMAN&from=23&to=127&var=A49P	ENST00000373457		ENSG00000169155	17908		29	3.33		HGNC	p.A49P		ZBTB43		SNV							ENST00000373457	protein_coding	getma.org/?cm=var&var=hg19,9,129594933,G,C&fts=all		SMART_domains:SM00225,Superfamily_domains:SSF54695,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF13,PROSITE_profiles:PS50097		A/P		C	medium	1246/5695		getma.org/?cm=msa&ty=f&p=ZBT43_HUMAN&rb=23&re=127&var=A49P	deleterious(0)	Q5JU97_HUMAN				ZBTB43,missense_variant,p.Ala49Pro,ENST00000373464,NM_014007.3;ZBTB43,missense_variant,p.Ala49Pro,ENST00000449886,NM_001135776.1;ZBTB43,missense_variant,p.Ala49Pro,ENST00000373457,;ZBTB43,missense_variant,p.Ala49Pro,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;							MODERATE	145/1404	A49P	ZBT43_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000362556		CCDS6867.1			1	
HPS1	0	LGGM	GRCh37	10	100195075	100195075	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	15	8	.	.	ENST00000325103.6:c.352G>A	p.Val118Met	p.V118M	ENST00000325103	NM_000195.3	118	Gtg/Atg	0	1	1	UPI000006D5B0	0	NA	ENST00000325103		ENSG00000107521	5163		23	0.975		HGNC	p.V118M		HPS1		SNV			1				ENST00000338546	protein_coding	getma.org/?cm=var&var=hg19,10,100195075,C,T&fts=all		hmmpanther:PTHR12761		V/M		T	low	586/3703		getma.org/?cm=msa&ty=f&p=HPS1_HUMAN&rb=1&re=474&var=V118M	tolerated(0.07)				YES	HPS1,missense_variant,p.Val118Met,ENST00000325103,NM_000195.3;HPS1,missense_variant,p.Val118Met,ENST00000361490,;HPS1,missense_variant,p.Val118Met,ENST00000338546,NM_182639.2;HPS1,upstream_gene_variant,,ENST00000359632,;HPS1,upstream_gene_variant,,ENST00000414009,;MIR4685,upstream_gene_variant,,ENST00000578185,;HPS1,non_coding_transcript_exon_variant,,ENST00000467246,;HPS1,non_coding_transcript_exon_variant,,ENST00000474873,;HPS1,intron_variant,,ENST00000498219,;HPS1,intron_variant,,ENST00000480020,;HPS1,upstream_gene_variant,,ENST00000478087,;HPS1,upstream_gene_variant,,ENST00000470095,;							MODERATE	352/2103	V118M	HPS1_HUMAN			Transcript		benign(0.168)	.	ENSP00000326649		CCDS7475.1			1	
SSFA2	0	LGGM	GRCh37	2	182781061	182781061	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	25	8	.	.	ENST00000431877.2:c.2694C>T	p.Tyr898=	p.Y898=	ENST00000431877	NM_001130445.1	898	taC/taT	0	1	1	UPI000019B17A	0		ENST00000431877		ENSG00000138434	11319		33			HGNC	p.Y898Y		SSFA2		SNV							ENST00000409001	protein_coding			Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF11		Y		T		2873/5150				B3KXT1_HUMAN			YES	SSFA2,synonymous_variant,p.=,ENST00000431877,NM_001130445.1;SSFA2,synonymous_variant,p.=,ENST00000409001,NM_001287504.1,NM_001287503.1;SSFA2,synonymous_variant,p.=,ENST00000320370,NM_006751.5;SSFA2,synonymous_variant,p.=,ENST00000428267,;SSFA2,synonymous_variant,p.=,ENST00000409136,;SSFA2,upstream_gene_variant,,ENST00000451836,;SSFA2,upstream_gene_variant,,ENST00000467172,;SSFA2,upstream_gene_variant,,ENST00000491866,;SSFA2,3_prime_UTR_variant,,ENST00000440623,;SSFA2,3_prime_UTR_variant,,ENST00000416081,;SSFA2,3_prime_UTR_variant,,ENST00000454579,;SSFA2,non_coding_transcript_exon_variant,,ENST00000491720,;							LOW	2694/3780		SSFA2_HUMAN			Transcript			.	ENSP00000388731		CCDS46467.1			1	
FBXL5	0	LGGM	GRCh37	4	15632416	15632416	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	15	9	.	.	ENST00000341285.3:c.767-2A>T		p.X256_splice	ENST00000341285	NM_001193534.1			0	1	1	UPI0000035C83	0		ENST00000341285		ENSG00000118564	13602		24			HGNC	-		FBXL5		SNV							ENST00000341285	protein_coding							A		-/3385				D6RHC3_HUMAN,D6RCR7_HUMAN,D6RBW7_HUMAN,D6RB50_HUMAN			YES	FBXL5,splice_acceptor_variant,,ENST00000341285,NM_001193534.1,NM_012161.3,NM_001193535.1;FBXL5,splice_acceptor_variant,,ENST00000382358,;FBXL5,splice_acceptor_variant,,ENST00000412094,;FBXL5,splice_acceptor_variant,,ENST00000513163,;FBXL5,splice_acceptor_variant,,ENST00000511441,;FBXL5,splice_acceptor_variant,,ENST00000507700,;							HIGH	767/2076		FBXL5_HUMAN			Transcript			.	ENSP00000344866		CCDS3415.1			1	
S100A16	0	LGGM	GRCh37	1	153580072	153580072	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	17	9	.	.	ENST00000368704.1:c.250G>T	p.Gly84Cys	p.G84C	ENST00000368704		84	Ggc/Tgc	0	1		UPI0000135414	0	getma.org/pdb.php?prot=S10AG_HUMAN&from=54&to=89&var=G84C	ENST00000368703		ENSG00000188643	20441		26	1.585		HGNC	p.G84C		S100A16		SNV							ENST00000368705	protein_coding	getma.org/?cm=var&var=hg19,1,153580072,C,A&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR11639:SF61,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		G/C		A	low	325/946		getma.org/?cm=msa&ty=f&p=S10AG_HUMAN&rb=54&re=89&var=G84C	deleterious(0)					S100A16,missense_variant,p.Gly84Cys,ENST00000368704,;S100A16,missense_variant,p.Gly84Cys,ENST00000368706,NM_080388.1;S100A16,missense_variant,p.Gly84Cys,ENST00000368705,;S100A16,missense_variant,p.Gly84Cys,ENST00000368703,;S100A16,non_coding_transcript_exon_variant,,ENST00000474991,;							MODERATE	250/312	G84C	S10AG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357692		CCDS1045.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103349833	103349833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	27	9	.	.	ENST00000398093.3:c.12797G>T	p.Gly4266Val	p.G4266V	ENST00000398093		4266	gGt/gTt	0	1		UPI0000418CA2	0	getma.org/pdb.php?prot=DYHC2_HUMAN&from=3606&to=4305&var=G4259V	ENST00000375735		ENSG00000187240	2962		36	1.355		HGNC	p.G176V	rs368203507	DYNC2H1		SNV	T:0.0008		1	0.000408			ENST00000533197	protein_coding	getma.org/?cm=var&var=hg19,11,103349833,G,T&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		G/V	T:0	T	low	12920/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=3606&re=4305&var=G4259V						DYNC2H1,missense_variant,p.Gly4259Val,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Gly4266Val,ENST00000398093,;DYNC2H1,missense_variant,p.Gly872Val,ENST00000334267,;DYNC2H1,missense_variant,p.Gly176Val,ENST00000533197,;DYNC2H1,3_prime_UTR_variant,,ENST00000528670,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000527252,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000530547,;							MODERATE	12776/12924	G4259V	DYHC2_HUMAN			Transcript		benign(0.098)	common_variant	ENSP00000364887	3.31E-05	CCDS53701.1			1	
RBM19	0	LGGM	GRCh37	12	114397127	114397127	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	28	9	.	.	ENST00000545145.2:c.461T>C	p.Leu154Pro	p.L154P	ENST00000545145	NM_001146699.1	154	cTg/cCg	0	1		UPI000013D1EC	0	NA	ENST00000261741		ENSG00000122965	29098		37	2.045		HGNC	p.L154P		RBM19		SNV							ENST00000261741	protein_coding	getma.org/?cm=var&var=hg19,12,114397127,A,G&fts=all				L/P		G	medium	605/4194		getma.org/?cm=msa&ty=f&p=RBM19_HUMAN&rb=74&re=273&var=L154P	deleterious(0.03)					RBM19,missense_variant,p.Leu154Pro,ENST00000545145,NM_001146699.1;RBM19,missense_variant,p.Leu154Pro,ENST00000261741,NM_016196.3;RBM19,missense_variant,p.Leu154Pro,ENST00000392561,NM_001146698.1;RBM19,intron_variant,,ENST00000546876,;							MODERATE	461/2883	L154P	RBM19_HUMAN			Transcript		benign(0.019)	.	ENSP00000261741		CCDS9172.1			1	
PABPC3	0	LGGM	GRCh37	13	25670630	25670630	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	25	9	.	.	ENST00000281589.3:c.294G>A	p.Val98=	p.V98=	ENST00000281589	NM_030979.2	98	gtG/gtA	0	1	1	UPI00001311AB	0		ENST00000281589		ENSG00000151846	8556		34			HGNC	p.V98V		PABPC3		SNV							ENST00000281589	protein_coding			Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239		V		A		331/3090				Q5VX58_HUMAN,Q2VIP3_HUMAN			YES	PABPC3,synonymous_variant,p.=,ENST00000281589,NM_030979.2;							LOW	294/1896		PABP3_HUMAN			Transcript			.	ENSP00000281589		CCDS9311.1			1	
HMCN1	0	LGGM	GRCh37	1	186114993	186114993	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	19	9	.	.	ENST00000271588.4:c.14546G>T	p.Gly4849Val	p.G4849V	ENST00000271588	NM_031935.2	4849	gGt/gTt	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4818&to=4868&var=G4849V	ENST00000271588		ENSG00000143341	19194		28	3.36		HGNC	p.G4849V		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186114993,G,T&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00209,Superfamily_domains:SSF82895		G/V		T	medium	14775/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4818&re=4868&var=G4849V					YES	HMCN1,missense_variant,p.Gly4849Val,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Gly4849Val,ENST00000367492,;							MODERATE	14546/16908	G4849V	HMCN1_HUMAN			Transcript		benign(0.057)	.	ENSP00000271588		CCDS30956.1			1	
MTOR	0	LGGM	GRCh37	1	11188183	11188183	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	26	9	.	.	ENST00000361445.4:c.5911G>T	p.Ala1971Ser	p.A1971S	ENST00000361445	NM_004958.3	1971	Gcc/Tcc	0	1	1	UPI000012ABD3	0	NA	ENST00000361445		ENSG00000198793	3942		35	2.425		HGNC	p.A1971S		MTOR		SNV			1				ENST00000361445	protein_coding	getma.org/?cm=var&var=hg19,1,11188183,C,A&fts=all		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63		A/S		A	medium	5988/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=1382&re=1982&var=A1971S	deleterious(0)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Ala1971Ser,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Ala176Ser,ENST00000376838,;MTOR,downstream_gene_variant,,ENST00000495435,;							MODERATE	5911/7650	A1971S	MTOR_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000354558		CCDS127.1			1	
MAN1A2	0	LGGM	GRCh37	1	118003230	118003230	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	23	9	.	.	ENST00000356554.3:c.1070A>T	p.Lys357Ile	p.K357I	ENST00000356554	NM_006699.3	357	aAa/aTa	0	1	1	UPI0000052B45	0	getma.org/pdb.php?prot=MA1A2_HUMAN&from=187&to=626&var=K357I	ENST00000356554		ENSG00000198162	6822		32	1.84		HGNC	p.K357I		MAN1A2		SNV							ENST00000356554	protein_coding	getma.org/?cm=var&var=hg19,1,118003230,A,T&fts=all		Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF40,Superfamily_domains:SSF48225		K/I		T	low	1805/8576		getma.org/?cm=msa&ty=f&p=MA1A2_HUMAN&rb=187&re=626&var=K357I	deleterious(0.02)				YES	MAN1A2,missense_variant,p.Lys357Ile,ENST00000356554,NM_006699.3;MAN1A2,missense_variant,p.Lys90Ile,ENST00000449370,;							MODERATE	1070/1926	K357I	MA1A2_HUMAN			Transcript		benign(0.126)	.	ENSP00000348959		CCDS895.1			1	
PHAX	0	LGGM	GRCh37	5	125939279	125939279	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	37	9	.	.	ENST00000297540.4:c.114C>T	p.Asp38=	p.D38=	ENST00000297540	NM_032177.3	38	gaC/gaT	0	1	1	UPI000006DD37	0		ENST00000297540		ENSG00000164902	10241		46			HGNC	p.D38D		PHAX		SNV							ENST00000297540	protein_coding			hmmpanther:PTHR13135		D		T		809/4288							YES	PHAX,synonymous_variant,p.=,ENST00000297540,NM_032177.3;PHAX,non_coding_transcript_exon_variant,,ENST00000514725,;PHAX,non_coding_transcript_exon_variant,,ENST00000505674,;PHAX,upstream_gene_variant,,ENST00000511371,;							LOW	114/1185		PHAX_HUMAN			Transcript			.	ENSP00000297540		CCDS4138.1			1	
APOL2	0	LGGM	GRCh37	22	36623505	36623505	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	40	10	.	.	ENST00000249066.6:c.959A>C	p.Lys320Thr	p.K320T	ENST00000249066	NM_145637.1	320	aAg/aCg	0	1	1	UPI0000125C91	0	NA	ENST00000249066		ENSG00000128335	619		50	2.98		HGNC	p.K320T		APOL2		SNV							ENST00000249066	protein_coding	getma.org/?cm=var&var=hg19,22,36623505,T,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05461,hmmpanther:PTHR14096,hmmpanther:PTHR14096:SF10		K/T		G	medium	1436/2685		getma.org/?cm=msa&ty=f&p=APOL2_HUMAN&rb=19&re=331&var=K320T	deleterious(0.01)	E9PM95_HUMAN,B0QYK8_HUMAN			YES	APOL2,missense_variant,p.Lys320Thr,ENST00000249066,NM_145637.1;APOL2,missense_variant,p.Lys320Thr,ENST00000358502,NM_030882.2;APOL2,missense_variant,p.Lys432Thr,ENST00000451256,;APOL2,downstream_gene_variant,,ENST00000529194,;APOL2,downstream_gene_variant,,ENST00000454728,;							MODERATE	959/1014	K320T	APOL2_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000249066		CCDS43014.1			1	
PRKRA	0	LGGM	GRCh37	2	179308059	179308059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	25	11	.	.	ENST00000325748.4:c.449A>G	p.Glu150Gly	p.E150G	ENST00000325748	NM_003690.4	150	gAg/gGg	0	1	1	UPI0000073B07	0	getma.org/pdb.php?prot=PRKRA_HUMAN&from=127&to=192&var=E150G	ENST00000325748		ENSG00000180228	9438		36	2.625		HGNC	p.E125G		PRKRA		SNV			1				ENST00000487082	protein_coding	getma.org/?cm=var&var=hg19,2,179308059,T,C&fts=all		Superfamily_domains:SSF54768,SMART_domains:SM00358,Gene3D:3.30.160.20,Pfam_domain:PF00035,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF8,PROSITE_profiles:PS50137		E/G		C	medium	650/1826		getma.org/?cm=msa&ty=f&p=PRKRA_HUMAN&rb=127&re=192&var=E150G	deleterious(0)	G5E9Q4_HUMAN,B4DJC7_HUMAN			YES	PRKRA,missense_variant,p.Glu150Gly,ENST00000325748,NM_003690.4;PRKRA,missense_variant,p.Glu37Gly,ENST00000438687,;PRKRA,missense_variant,p.Glu139Gly,ENST00000432031,NM_001139518.1,NM_001139517.1;PRKRA,missense_variant,p.Glu125Gly,ENST00000487082,;PRKRA,downstream_gene_variant,,ENST00000457633,;AC009948.5,downstream_gene_variant,,ENST00000453026,;PRKRA,downstream_gene_variant,,ENST00000470200,;PRKRA,downstream_gene_variant,,ENST00000460433,;PRKRA,3_prime_UTR_variant,,ENST00000424699,;PRKRA,3_prime_UTR_variant,,ENST00000448279,;PRKRA,non_coding_transcript_exon_variant,,ENST00000490501,;PRKRA,non_coding_transcript_exon_variant,,ENST00000474793,;PRKRA,downstream_gene_variant,,ENST00000466165,;							MODERATE	449/942	E150G	PRKRA_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000318176		CCDS2279.1			1	
CBFA2T2	0	LGGM	GRCh37	20	32211725	32211725	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	43	11	.	.	ENST00000346541.3:c.719+623T>C		*240*	ENST00000346541	NM_005093.3			0	1	1	UPI0000073E07	0		ENST00000346541		ENSG00000078699	1536		54			HGNC	p.L260P		CBFA2T2		SNV							ENST00000344201	protein_coding							C		-/7737				Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN			YES	CBFA2T2,missense_variant,p.Leu260Pro,ENST00000397798,;CBFA2T2,missense_variant,p.Leu260Pro,ENST00000344201,;CBFA2T2,intron_variant,,ENST00000492345,;CBFA2T2,intron_variant,,ENST00000346541,NM_005093.3;CBFA2T2,intron_variant,,ENST00000375279,;CBFA2T2,intron_variant,,ENST00000397800,NM_001039709.1;CBFA2T2,intron_variant,,ENST00000359606,;CBFA2T2,intron_variant,,ENST00000342704,NM_001032999.2;CBFA2T2,intron_variant,,ENST00000491618,;							MODIFIER	-/1815		MTG8R_HUMAN			Transcript			.	ENSP00000262653		CCDS13221.1			1	
BRCA1	0	LGGM	GRCh37	17	41244590	41244590	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	49	11	.	.	ENST00000357654.3:c.2958C>G	p.Ile986Met	p.I986M	ENST00000357654	NM_007294.3	986	atC/atG	0	1		UPI0000126AC8	0	NA	ENST00000357654		ENSG00000012048	1100		60	2.08		HGNC	p.I986M	COSM93977	BRCA1		SNV			1			1	ENST00000357654	protein_coding	getma.org/?cm=var&var=hg19,17,41244590,G,C&fts=all		PIRSF_domain:PIRSF001734,hmmpanther:PTHR13763,hmmpanther:PTHR13763:SF0		I/M		C	medium	3077/7094		getma.org/?cm=msa&ty=f&p=BRCA1_HUMAN&rb=979&re=1178&var=I986M	deleterious(0.03)	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				BRCA1,missense_variant,p.Ile690Met,ENST00000309486,NM_007297.3;BRCA1,missense_variant,p.Ile986Met,ENST00000357654,NM_007294.3;BRCA1,missense_variant,p.Ile986Met,ENST00000346315,;BRCA1,missense_variant,p.Ile986Met,ENST00000354071,;BRCA1,missense_variant,p.Ile986Met,ENST00000471181,NM_007300.3;BRCA1,missense_variant,p.Ile939Met,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,;					1		MODERATE	2958/5592	I986M	BRCA1_HUMAN			Transcript		benign(0.04)	.	ENSP00000350283		CCDS11453.1			1	
PARG	0	LGGM	GRCh37	10	51087755	51087755	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	53	11	.	.	ENST00000402038.3:c.497C>T	p.Ser166Leu	p.S166L	ENST00000402038	NM_003631.2	166	tCg/tTg	0	1	1	UPI0000404B69	0	getma.org/pdb.php?prot=PARG_HUMAN&from=577&to=912&var=S651L	ENST00000402038		ENSG00000227345	8605		64	2.395		HGNC	p.S166L	COSM918738	PARG		SNV						1	ENST00000402038	protein_coding	getma.org/?cm=var&var=hg19,10,51087755,G,A&fts=all		hmmpanther:PTHR12837,Pfam_domain:PF05028		S/L		A	medium	497/2537		getma.org/?cm=msa&ty=f&p=PARG_HUMAN&rb=577&re=912&var=S651L	deleterious(0)	B4DX76_HUMAN,B4DHS4_HUMAN			YES	PARG,missense_variant,p.Ser166Leu,ENST00000402038,NM_003631.2;					1		MODERATE	497/1476	S651L	PARG_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000384408					1	
FBXW8	0	LGGM	GRCh37	12	117423146	117423146	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	32	11	.	.	ENST00000309909.5:c.971T>G	p.Met324Arg	p.M324R	ENST00000309909		324	aTg/aGg	0	1	1	UPI000019AB72	0	getma.org/pdb.php?prot=FBXW8_HUMAN&from=162&to=361&var=M324R	ENST00000309909		ENSG00000174989	13597		43	1.1		HGNC	p.M324R		FBXW8		SNV							ENST00000309909	protein_coding	getma.org/?cm=var&var=hg19,12,117423146,T,G&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF157,SMART_domains:SM00320,Superfamily_domains:SSF50998		M/R		G	low	1053/2343		getma.org/?cm=msa&ty=f&p=FBXW8_HUMAN&rb=162&re=361&var=M324R	deleterious(0.01)				YES	FBXW8,missense_variant,p.Met258Arg,ENST00000455858,NM_153348.2,NM_012174.1;FBXW8,missense_variant,p.Met324Arg,ENST00000309909,;RP11-231I16.1,non_coding_transcript_exon_variant,,ENST00000548738,;FBXW8,non_coding_transcript_exon_variant,,ENST00000551773,;							MODERATE	971/1797	M324R	FBXW8_HUMAN			Transcript		benign(0.265)	.	ENSP00000310686		CCDS9182.1			1	
FBXW8	0	LGGM	GRCh37	12	117423135	117423135	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	33	12	.	.	ENST00000309909.5:c.960T>C	p.Phe320=	p.F320=	ENST00000309909		320	ttT/ttC	0	1	1	UPI000019AB72	0		ENST00000309909		ENSG00000174989	13597		45			HGNC	p.F320F		FBXW8		SNV							ENST00000309909	protein_coding			Gene3D:2.130.10.10,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF157,SMART_domains:SM00320,Superfamily_domains:SSF50998		F		C		1042/2343							YES	FBXW8,synonymous_variant,p.=,ENST00000455858,NM_153348.2,NM_012174.1;FBXW8,synonymous_variant,p.=,ENST00000309909,;RP11-231I16.1,non_coding_transcript_exon_variant,,ENST00000548738,;FBXW8,non_coding_transcript_exon_variant,,ENST00000551773,;							LOW	960/1797		FBXW8_HUMAN			Transcript			.	ENSP00000310686		CCDS9182.1			1	
USP24	0	LGGM	GRCh37	1	55555364	55555364	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	49	12	.	.	ENST00000294383.6:c.6604A>C	p.Ser2202Arg	p.S2202R	ENST00000294383	NM_015306.2	2202	Agt/Cgt	0	1	1	UPI000059CFDE	0	NA	ENST00000294383		ENSG00000162402	12623		61	1.65		HGNC	p.S2202R		USP24		SNV							ENST00000294383	protein_coding	getma.org/?cm=var&var=hg19,1,55555364,T,G&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		S/R		G	low	6604/10549		getma.org/?cm=msa&ty=f&p=UBP24_HUMAN&rb=2061&re=2619&var=S2202R	deleterious(0.01)				YES	USP24,missense_variant,p.Ser2202Arg,ENST00000294383,NM_015306.2;USP24,missense_variant,p.Ser2042Arg,ENST00000407756,;USP24,upstream_gene_variant,,ENST00000472566,;USP24,downstream_gene_variant,,ENST00000482197,;USP24,upstream_gene_variant,,ENST00000512504,;							MODERATE	6604/7863	S2202R	UBP24_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000294383		CCDS44154.2			1	
MYO7B	0	LGGM	GRCh37	2	128390879	128390879	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	27	12	.	.	ENST00000428314.1:c.5374G>T	p.Ala1792Ser	p.A1792S	ENST00000428314	NM_001080527.1	1792	Gca/Tca	0	1		UPI00006C04F0	0	getma.org/pdb.php?prot=MYO7B_HUMAN&from=1688&to=1793&var=A1792S	ENST00000409816		ENSG00000169994	7607	9.31E-05	39	0.97		HGNC	p.A1793S	rs372050866	MYO7B		SNV	T:0						ENST00000389524	protein_coding	getma.org/?cm=var&var=hg19,2,128390879,G,T&fts=all		PROSITE_profiles:PS51016,Pfam_domain:PF00784,SMART_domains:SM00139,Superfamily_domains:SSF54236		A/S	T:0.0001	T	low	5406/6694	9.71E-05	getma.org/?cm=msa&ty=f&p=MYO7B_HUMAN&rb=1688&re=1793&var=A1792S	deleterious(0)	C9JC21_HUMAN,B9A063_HUMAN				MYO7B,missense_variant,p.Ala1793Ser,ENST00000389524,;MYO7B,missense_variant,p.Ala1792Ser,ENST00000428314,NM_001080527.1;MYO7B,missense_variant,p.Ala1792Ser,ENST00000409816,;MYO7B,missense_variant,p.Ala645Ser,ENST00000409090,;MYO7B,non_coding_transcript_exon_variant,,ENST00000496841,;MYO7B,non_coding_transcript_exon_variant,,ENST00000491278,;MYO7B,upstream_gene_variant,,ENST00000494959,;							MODERATE	5374/6351	A1792S	MYO7B_HUMAN			Transcript		benign(0.281)	.	ENSP00000386461	5.79E-05	CCDS46405.1			1	
P2RY6	0	LGGM	GRCh37	11	73007856	73007856	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	36	12	.	.	ENST00000393590.2:c.293C>T	p.Ala98Val	p.A98V	ENST00000393590	NM_001277208.1	98	gCc/gTc	0	1		UPI000005041C	0	getma.org/pdb.php?prot=P2RY6_HUMAN&from=43&to=301&var=A98V	ENST00000349767		ENSG00000171631	8543		48	-0.025		HGNC	p.A98V		P2RY6		SNV							ENST00000542092	protein_coding	getma.org/?cm=var&var=hg19,11,73007856,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF16,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		A/V		T	neutral	706/1700		getma.org/?cm=msa&ty=f&p=P2RY6_HUMAN&rb=43&re=301&var=A98V	tolerated(0.19)	F5GYF3_HUMAN,F5GX90_HUMAN				P2RY6,missense_variant,p.Ala98Val,ENST00000393590,NM_001277208.1,NM_001277207.1;P2RY6,missense_variant,p.Ala98Val,ENST00000540124,;P2RY6,missense_variant,p.Ala98Val,ENST00000393591,NM_176798.2;P2RY6,missense_variant,p.Ala98Val,ENST00000349767,NM_176796.2;P2RY6,missense_variant,p.Ala98Val,ENST00000542092,NM_001277205.1;P2RY6,missense_variant,p.Ala98Val,ENST00000540342,;P2RY6,missense_variant,p.Ala98Val,ENST00000393592,;P2RY6,missense_variant,p.Ala98Val,ENST00000538328,;P2RY6,missense_variant,p.Ala98Val,ENST00000535931,;P2RY6,missense_variant,p.Ala98Val,ENST00000544437,;P2RY6,intron_variant,,ENST00000536225,;							MODERATE	293/987	A98V	P2RY6_HUMAN			Transcript		benign(0.111)	.	ENSP00000309771		CCDS8220.1			1	
MEGF8	0	LGGM	GRCh37	19	42837755	42837755	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	13	13	.	.	ENST00000334370.4:c.188-2A>T		p.X63_splice	ENST00000334370	NM_001410.2			0	1		UPI00005788D1	0		ENST00000251268		ENSG00000105429	3233		26			HGNC	-		MEGF8		SNV			1				ENST00000334370	protein_coding							T		-/9549								MEGF8,splice_acceptor_variant,,ENST00000334370,NM_001410.2,NM_001271938.1;MEGF8,splice_acceptor_variant,,ENST00000251268,;							HIGH	188/8538		MEGF8_HUMAN			Transcript			.	ENSP00000251268		CCDS62693.1			1	
MTOR	0	LGGM	GRCh37	1	11187700	11187700	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	40	13	.	.	ENST00000361445.4:c.6197A>G	p.Lys2066Arg	p.K2066R	ENST00000361445	NM_004958.3	2066	aAg/aGg	0	1	1	UPI000012ABD3	0	getma.org/pdb.php?prot=MTOR_HUMAN&from=2015&to=2114&var=K2066R	ENST00000361445		ENSG00000198793	3942		53	-0.105		HGNC	p.K2066R		MTOR		SNV			1				ENST00000361445	protein_coding	getma.org/?cm=var&var=hg19,1,11187700,T,C&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:3fapB00,Pfam_domain:PF08771,Superfamily_domains:0045511		K/R		C	neutral	6274/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=2015&re=2114&var=K2066R	tolerated(0.93)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Lys2066Arg,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Lys271Arg,ENST00000376838,;MTOR,downstream_gene_variant,,ENST00000495435,;							MODERATE	6197/7650	K2066R	MTOR_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000354558		CCDS127.1			1	
PEX5L	0	LGGM	GRCh37	3	179525514	179525514	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	57	14	.	.	ENST00000467460.1:c.1624A>G	p.Ile542Val	p.I542V	ENST00000467460	NM_001256751.1	542	Atc/Gtc	0	1	1	UPI0000049CE2	0	getma.org/pdb.php?prot=PEX5R_HUMAN&from=542&to=575&var=I542V	ENST00000467460		ENSG00000114757	30024		71	0.4		HGNC	p.I540V		PEX5L		SNV							ENST00000263962	protein_coding	getma.org/?cm=var&var=hg19,3,179525514,T,C&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		I/V		C	neutral	1955/9082		getma.org/?cm=msa&ty=f&p=PEX5R_HUMAN&rb=542&re=575&var=I542V	tolerated(0.39)	C9JZE2_HUMAN,C9IZ09_HUMAN			YES	PEX5L,missense_variant,p.Ile542Val,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,missense_variant,p.Ile507Val,ENST00000485199,NM_001256752.1;PEX5L,missense_variant,p.Ile540Val,ENST00000263962,NM_001256750.1;PEX5L,missense_variant,p.Ile499Val,ENST00000476138,NM_001256754.1;PEX5L,missense_variant,p.Ile434Val,ENST00000392649,;PEX5L,missense_variant,p.Ile350Val,ENST00000468741,NM_001256756.1;PEX5L,missense_variant,p.Ile483Val,ENST00000472994,NM_001256753.1;PEX5L,missense_variant,p.Ile518Val,ENST00000465751,;PEX5L,missense_variant,p.Ile434Val,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,;							MODERATE	1624/1881	I542V	PEX5R_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000419975		CCDS3236.1			1	
CDH8	0	LGGM	GRCh37	16	61760970	61760970	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	19	14	.	.	ENST00000577390.1:c.1536+28A>G		*512*	ENST00000577390	NM_001796.4			0	1	1	UPI0000126D9F	0		ENST00000577390		ENSG00000150394	1767		33			HGNC	p.N522D		CDH8		SNV							ENST00000584337	protein_coding							C		-/9721				J3KTG8_HUMAN,J3KT81_HUMAN			YES	CDH8,missense_variant,p.Asn522Asp,ENST00000584337,;CDH8,intron_variant,,ENST00000577390,NM_001796.4;CDH8,intron_variant,,ENST00000577730,;CDH8,intron_variant,,ENST00000299345,;CDH8,intron_variant,,ENST00000585315,;							MODIFIER	-/2400		CADH8_HUMAN			Transcript			.	ENSP00000462701		CCDS10802.1			1	
USP24	0	LGGM	GRCh37	1	55555381	55555381	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	56	14	.	.	ENST00000294383.6:c.6587A>C	p.Glu2196Ala	p.E2196A	ENST00000294383	NM_015306.2	2196	gAa/gCa	0	1	1	UPI000059CFDE	0	NA	ENST00000294383		ENSG00000162402	12623		70	1.355		HGNC	p.E2196A		USP24		SNV							ENST00000294383	protein_coding	getma.org/?cm=var&var=hg19,1,55555381,T,G&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		E/A		G	low	6587/10549		getma.org/?cm=msa&ty=f&p=UBP24_HUMAN&rb=2061&re=2619&var=E2196A	tolerated(0.13)				YES	USP24,missense_variant,p.Glu2196Ala,ENST00000294383,NM_015306.2;USP24,missense_variant,p.Glu2036Ala,ENST00000407756,;USP24,upstream_gene_variant,,ENST00000472566,;USP24,downstream_gene_variant,,ENST00000482197,;USP24,upstream_gene_variant,,ENST00000512504,;							MODERATE	6587/7863	E2196A	UBP24_HUMAN			Transcript		benign(0.005)	.	ENSP00000294383		CCDS44154.2			1	
CIPC	0	LGGM	GRCh37	14	77580302	77580302	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	24	14	.	.	ENST00000361786.2:c.841C>T	p.Pro281Ser	p.P281S	ENST00000361786	NM_033426.2	281	Ccc/Tcc	0	1	1	UPI0000073FD0	0	NA	ENST00000361786		ENSG00000198894	20365		38	1.085		HGNC	p.P281S		CIPC		SNV							ENST00000361786	protein_coding	getma.org/?cm=var&var=hg19,14,77580302,C,T&fts=all				P/S		T	low	1158/4486		getma.org/?cm=msa&ty=f&p=K1737_HUMAN&rb=33&re=395&var=P281S	tolerated(0.24)	G3V5Y7_HUMAN,G3V5J4_HUMAN,G3V405_HUMAN,G3V3Y7_HUMAN			YES	CIPC,missense_variant,p.Pro281Ser,ENST00000361786,NM_033426.2;CIPC,downstream_gene_variant,,ENST00000557115,;CIPC,downstream_gene_variant,,ENST00000555611,;CIPC,downstream_gene_variant,,ENST00000554447,;CIPC,downstream_gene_variant,,ENST00000554658,;TMEM63C,upstream_gene_variant,,ENST00000557408,;CIPC,downstream_gene_variant,,ENST00000555200,;CIPC,downstream_gene_variant,,ENST00000555437,;RP11-463C8.4,intron_variant,,ENST00000557752,;							MODERATE	841/1200	P281S	K1737_HUMAN			Transcript		possibly_damaging(0.722)	.	ENSP00000355319		CCDS9855.1			1	
MTHFD1L	0	LGGM	GRCh37	6	151226867	151226867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	45	15	.	.	ENST00000367321.3:c.862G>T	p.Val288Phe	p.V288F	ENST00000367321	NM_001242768.1	288	Gtt/Ttt	0	1	1	UPI00001CE513	0	getma.org/pdb.php?prot=C1TM_HUMAN&from=183&to=308&var=V288F	ENST00000367321		ENSG00000120254	21055		60	2.06		HGNC	p.V288F		MTHFD1L		SNV							ENST00000367321	protein_coding	getma.org/?cm=var&var=hg19,6,151226867,G,T&fts=all		hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF02882,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00085		V/F		T	medium	1136/3604		getma.org/?cm=msa&ty=f&p=C1TM_HUMAN&rb=183&re=308&var=V288F	deleterious(0)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN			YES	MTHFD1L,missense_variant,p.Val288Phe,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;MTHFD1L,missense_variant,p.Val249Phe,ENST00000367308,;MTHFD1L,missense_variant,p.Val22Phe,ENST00000421497,;MTHFD1L,5_prime_UTR_variant,,ENST00000441122,;							MODERATE	862/2937	V288F	C1TM_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000356290		CCDS5228.1			1	
BCLAF1	0	LGGM	GRCh37	6	136599490	136599490	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	107	15	.	.	ENST00000531224.1:c.529A>C	p.Ser177Arg	p.S177R	ENST00000531224	NM_001077441.1	177	Agt/Cgt	0	1	1	UPI000006FCE7	0	NA	ENST00000531224		ENSG00000029363	16863		122	0.345		HGNC	p.S177R		BCLAF1		SNV							ENST00000530767	protein_coding	getma.org/?cm=var&var=hg19,6,136599490,T,G&fts=all		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4		S/R		G	neutral	782/7263		getma.org/?cm=msa&ty=f&p=BCLF1_HUMAN&rb=1&re=555&var=S177R	deleterious_low_confidence(0.01)	B0AZU3_HUMAN			YES	BCLAF1,missense_variant,p.Ser177Arg,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,missense_variant,p.Ser175Arg,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Ser177Arg,ENST00000527536,;BCLAF1,missense_variant,p.Ser175Arg,ENST00000527759,;BCLAF1,missense_variant,p.Ser177Arg,ENST00000530767,;BCLAF1,missense_variant,p.Ser175Arg,ENST00000392348,;BCLAF1,missense_variant,p.Ser177Arg,ENST00000529826,;BCLAF1,missense_variant,p.Ser177Arg,ENST00000527613,;BCLAF1,missense_variant,p.Ser175Arg,ENST00000534269,;BCLAF1,missense_variant,p.Ser177Arg,ENST00000532384,;BCLAF1,missense_variant,p.Ser175Arg,ENST00000530429,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,upstream_gene_variant,,ENST00000533621,;BCLAF1,downstream_gene_variant,,ENST00000528229,;							MODERATE	529/2763	S177R	BCLF1_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000435210		CCDS5177.1			1	
COL2A1	0	LGGM	GRCh37	12	48367324	48367324	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	13	15	.	.	ENST00000380518.3:c.4330A>G	p.Lys1444Glu	p.K1444E	ENST00000380518	NM_033150.2	1444	Aag/Gag	0	1	1	UPI0000D79713	0	NA	ENST00000380518		ENSG00000139219	2200		28	-0.385		HGNC	p.K1375E		COL2A1		SNV			1				ENST00000337299	protein_coding	getma.org/?cm=var&var=hg19,12,48367324,T,C&fts=all		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,SMART_domains:SM00038		K/E		C	neutral	4495/5071		getma.org/?cm=msa&ty=f&p=CO2A1_HUMAN&rb=1269&re=1486&var=K1444E					YES	COL2A1,missense_variant,p.Lys1444Glu,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,missense_variant,p.Lys1375Glu,ENST00000337299,;TMEM106C,downstream_gene_variant,,ENST00000429772,NM_001143842.1;TMEM106C,downstream_gene_variant,,ENST00000449758,NM_001143843.1;TMEM106C,downstream_gene_variant,,ENST00000256686,NM_024056.3,NM_001143841.1;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,downstream_gene_variant,,ENST00000546974,;							MODERATE	4330/4464	K1444E	CO2A1_HUMAN			Transcript		unknown(0)	.	ENSP00000369889		CCDS41778.1			1	
ESPL1	0	LGGM	GRCh37	12	53675296	53675296	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	25	18	.	.	ENST00000257934.4:c.2505C>T	p.His835=	p.H835=	ENST00000257934	NM_012291.4	835	caC/caT	0	1	1	UPI00003668C3	0		ENST00000257934		ENSG00000135476	16856		43			HGNC	p.H835H		ESPL1		SNV							ENST00000552462	protein_coding			hmmpanther:PTHR12792		H		T		2596/6623				H3BRX7_HUMAN			YES	ESPL1,synonymous_variant,p.=,ENST00000257934,NM_012291.4;ESPL1,synonymous_variant,p.=,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,non_coding_transcript_exon_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000553016,;							LOW	2505/6363		ESPL1_HUMAN			Transcript			.	ENSP00000257934		CCDS8852.1			1	
SI	0	LGGM	GRCh37	3	164767616	164767616	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	27	19	.	.	ENST00000264382.3:c.1560T>C	p.Cys520=	p.C520=	ENST00000264382	NM_001041.3	520	tgT/tgC	0	1	1	UPI000022C287	0		ENST00000264382		ENSG00000090402	10856		46			HGNC	p.C520C		SI		SNV			1				ENST00000264382	protein_coding			Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66		C		G		1623/6011							YES	SI,synonymous_variant,p.=,ENST00000264382,NM_001041.3;							LOW	1560/5484		SUIS_HUMAN			Transcript			.	ENSP00000264382		CCDS3196.1			1	
ITIH4	0	LGGM	GRCh37	3	52853988	52853988	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	103	20	.	.	ENST00000266041.4:c.1880A>G	p.Tyr627Cys	p.Y627C	ENST00000266041	NM_002218.4	627	tAt/tGt	0	1	1	UPI000013D6C3	0	NA	ENST00000266041		ENSG00000055955	6169		123	0.69		HGNC	p.Y627C		ITIH4		SNV							ENST00000266041	protein_coding	getma.org/?cm=var&var=hg19,3,52853988,T,C&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98		Y/C		C	neutral	1977/3336		getma.org/?cm=msa&ty=f&p=ITIH4_HUMAN&rb=458&re=657&var=Y627C	tolerated(0.17)				YES	ITIH4,missense_variant,p.Tyr627Cys,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.Tyr627Cys,ENST00000485816,;ITIH4,missense_variant,p.Tyr539Cys,ENST00000434759,;ITIH4,intron_variant,,ENST00000346281,NM_001166449.1;ITIH4,intron_variant,,ENST00000406595,;ITIH4,intron_variant,,ENST00000441637,;ITIH4-AS1,upstream_gene_variant,,ENST00000478366,;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,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000461966,;ITIH4,upstream_gene_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000483372,;ITIH4,downstream_gene_variant,,ENST00000485894,;							MODERATE	1880/2793	Y627C	ITIH4_HUMAN			Transcript		benign(0.428)	.	ENSP00000266041		CCDS2865.1			1	
NUP210L	0	LGGM	GRCh37	1	154061900	154061900	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	90	20	.	.	ENST00000368559.3:c.2358G>T	p.Trp786Cys	p.W786C	ENST00000368559	NM_207308.2	786	tgG/tgT	0	1	1	UPI000023724F	0	NA	ENST00000368559		ENSG00000143552	29915		110	0		HGNC	p.W786C		NUP210L		SNV							ENST00000368559	protein_coding	getma.org/?cm=var&var=hg19,1,154061900,C,A&fts=all		hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019		W/C		A	neutral	2430/5889		getma.org/?cm=msa&ty=f&p=P210L_HUMAN&rb=601&re=800&var=W786C	deleterious(0)				YES	NUP210L,missense_variant,p.Trp786Cys,ENST00000368559,NM_207308.2;NUP210L,missense_variant,p.Trp786Cys,ENST00000271854,NM_001159484.1;							MODERATE	2358/5667	W786C	P210L_HUMAN			Transcript		benign(0.375)	.	ENSP00000357547		CCDS41399.1			1	
SLC1A2	0	LGGM	GRCh37	11	35313917	35313917	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	84	21	.	.	ENST00000278379.3:c.1008C>G	p.Tyr336Ter	p.Y336*	ENST00000278379	NM_004171.3	336	taC/taG	0	1	1	UPI0000129B12	0	NA	ENST00000278379		ENSG00000110436	10940		105	0		HGNC	p.Y327X		SLC1A2		SNV							ENST00000395753	protein_coding	getma.org/?cm=var&var=hg19,11,35313917,G,C&fts=all		Superfamily_domains:0053221,Gene3D:2nwlC00,Pfam_domain:PF00375,Prints_domain:PR00173,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF43,Transmembrane_helices:TMhelix		Y/*		C	NA	1291/11696		NA		A2A2U1_HUMAN			YES	SLC1A2,stop_gained,p.Tyr336Ter,ENST00000278379,NM_004171.3;SLC1A2,stop_gained,p.Tyr327Ter,ENST00000395753,NM_001252652.1;SLC1A2,stop_gained,p.Tyr327Ter,ENST00000395750,NM_001195728.2;SLC1A2,stop_gained,p.Tyr336Ter,ENST00000606205,;SLC1A2,stop_gained,p.Tyr54Ter,ENST00000531628,;							HIGH	1008/1725	Y336*	EAA2_HUMAN			Transcript			.	ENSP00000278379		CCDS31459.1			1	
TRIP10	0	LGGM	GRCh37	19	6743076	6743076	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	18	21	.	.	ENST00000313285.8:c.296G>T	p.Cys99Phe	p.C99F	ENST00000313285	NM_004240.2	99	tGt/tTt	0	1		UPI000006DB86	0	getma.org/pdb.php?prot=G5E9U1_HUMAN&from=1&to=200&var=C99F	ENST00000313244		ENSG00000125733	12304		39	1.61		HGNC	p.C99F		TRIP10		SNV							ENST00000313285	protein_coding	getma.org/?cm=var&var=hg19,19,6743076,G,T&fts=all		hmmpanther:PTHR12602,hmmpanther:PTHR12602:SF7,Superfamily_domains:SSF103657		C/F		T	low	331/2153		getma.org/?cm=msa&ty=f&p=G5E9U1_HUMAN&rb=1&re=200&var=C99F	tolerated(0.48)	M0R070_HUMAN				TRIP10,missense_variant,p.Cys99Phe,ENST00000313244,;TRIP10,missense_variant,p.Cys99Phe,ENST00000313285,NM_004240.2;TRIP10,missense_variant,p.Cys99Phe,ENST00000596758,;TRIP10,5_prime_UTR_variant,,ENST00000600428,;TRIP10,5_prime_UTR_variant,,ENST00000596673,;TRIP10,non_coding_transcript_exon_variant,,ENST00000596543,;TRIP10,non_coding_transcript_exon_variant,,ENST00000601303,;TRIP10,missense_variant,p.Cys99Phe,ENST00000600677,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595305,;TRIP10,non_coding_transcript_exon_variant,,ENST00000600491,;TRIP10,non_coding_transcript_exon_variant,,ENST00000596078,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595319,;TRIP10,upstream_gene_variant,,ENST00000598843,;							MODERATE	296/1806	C99F	CIP4_HUMAN			Transcript		benign(0.04)	.	ENSP00000320117					1	
RAD51D	0	LGGM	GRCh37	17	33445578	33445578	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	26	22	.	.	ENST00000335858.7:c.144+552G>A		*48*	ENST00000335858	NM_133629.2			0	1		UPI0000000DE1	0	getma.org/pdb.php?prot=RA51D_HUMAN&from=59&to=300&var=A69T	ENST00000345365		ENSG00000185379	9823		48	1.665		HGNC	p.A69T	rs763439048	RAD51D		SNV			1				ENST00000586210	protein_coding	getma.org/?cm=var&var=hg19,17,33445578,C,T&fts=all		hmmpanther:PTHR22942:SF8,hmmpanther:PTHR22942,PIRSF_domain:PIRSF005856		A/T		T	low	461/2404	1.50E-05	getma.org/?cm=msa&ty=f&p=RA51D_HUMAN&rb=59&re=300&var=A69T	deleterious(0.04)	Q7Z790_HUMAN,K7EMF1_HUMAN,K7EJ58_HUMAN,H0UID0_HUMAN				RAD51D,missense_variant,p.Ala69Thr,ENST00000345365,NM_002878.3;RAD51D,missense_variant,p.Ala69Thr,ENST00000394589,;RAD51D,missense_variant,p.Ala69Thr,ENST00000360276,;RAD51D,missense_variant,p.Ala71Thr,ENST00000592577,;RAD51D,missense_variant,p.Ala69Thr,ENST00000357906,;RAD51D,5_prime_UTR_variant,,ENST00000460118,;RAD51L3-RFFL,intron_variant,,ENST00000593039,;RAD51D,intron_variant,,ENST00000590016,NM_001142571.1;RAD51D,intron_variant,,ENST00000335858,NM_133629.2;RAD51L3-RFFL,intron_variant,,ENST00000592181,;RAD51L3-RFFL,intron_variant,,ENST00000591723,;RAD51D,intron_variant,,ENST00000587405,;RAD51D,intron_variant,,ENST00000590631,;FNDC8,upstream_gene_variant,,ENST00000158009,NM_017559.2;RAD51D,non_coding_transcript_exon_variant,,ENST00000415064,;RAD51D,intron_variant,,ENST00000590380,;RAD51D,intron_variant,,ENST00000592430,;RAD51D,intron_variant,,ENST00000587982,;RAD51D,intron_variant,,ENST00000585982,;RAD51D,missense_variant,p.Ala69Thr,ENST00000587977,;RAD51D,missense_variant,p.Ala69Thr,ENST00000586210,;RAD51D,missense_variant,p.Ala37Thr,ENST00000585343,;RAD51D,missense_variant,p.Ala37Thr,ENST00000592850,;RAD51D,missense_variant,p.Arg37His,ENST00000586186,;RAD51D,missense_variant,p.Arg37His,ENST00000592928,;RAD51D,intron_variant,,ENST00000588372,;RAD51D,intron_variant,,ENST00000586044,;RAD51D,intron_variant,,ENST00000588594,;RAD51D,intron_variant,,ENST00000585947,;RAD51D,intron_variant,,ENST00000589506,;							MODERATE	205/987	A69T	RA51D_HUMAN			Transcript		benign(0.384)	.	ENSP00000338790	8.24E-06	CCDS11287.1			1	
ZC3H8	0	LGGM	GRCh37	2	112996054	112996054	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H072999	H072999N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	46	23	.	.	ENST00000409573.2:c.208A>C	p.Ser70Arg	p.S70R	ENST00000409573		70	Agt/Cgt	0	1		UPI00000467EA	0	NA	ENST00000272570		ENSG00000144161	30941		69	2.215		HGNC	p.S70R		ZC3H8		SNV							ENST00000409573	protein_coding	getma.org/?cm=var&var=hg19,2,112996054,T,G&fts=all		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF21		S/R		G	medium	314/1601		getma.org/?cm=msa&ty=f&p=ZC3H8_HUMAN&rb=1&re=182&var=S70R	deleterious(0)	Q53RD8_HUMAN,Q53QC9_HUMAN				ZC3H8,missense_variant,p.Ser70Arg,ENST00000409573,;ZC3H8,missense_variant,p.Ser70Arg,ENST00000272570,NM_032494.2;ZC3H8,non_coding_transcript_exon_variant,,ENST00000474234,;ZC3H8,non_coding_transcript_exon_variant,,ENST00000464305,;ZC3H8,non_coding_transcript_exon_variant,,ENST00000466259,;							MODERATE	208/876	S70R	ZC3H8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000272570					1	
KIAA0196	0	LGGM	GRCh37	8	126056852	126056852	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H072999	H072999N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	86	29	.	.	ENST00000318410.7:c.2593C>T	p.Gln865Ter	p.Q865*	ENST00000318410	NM_014846.3	865	Cag/Tag	0	1	1	UPI000013943B	0	NA	ENST00000318410		ENSG00000164961	28984		115	0		HGNC	p.Q717X		KIAA0196		SNV			1				ENST00000517845	protein_coding	getma.org/?cm=var&var=hg19,8,126056852,G,A&fts=all		hmmpanther:PTHR15691,Pfam_domain:PF10266		Q/*		A	NA	2943/4187		NA		Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN			YES	KIAA0196,stop_gained,p.Gln865Ter,ENST00000318410,NM_014846.3;KIAA0196,stop_gained,p.Gln717Ter,ENST00000517845,;KIAA0196-AS1,non_coding_transcript_exon_variant,,ENST00000519140,;KIAA0196,non_coding_transcript_exon_variant,,ENST00000530856,;							HIGH	2593/3480	Q865*	STRUM_HUMAN			Transcript			.	ENSP00000318016		CCDS6355.1			1	
CEACAM3	0	LGGM	GRCh37	19	42301605	42301605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	38	33	.	.	ENST00000357396.3:c.149A>T	p.Glu50Val	p.E50V	ENST00000357396	NM_001815.3	50	gAg/gTg	0	1	1	UPI000013C7E7	0	getma.org/pdb.php?prot=CEAM3_HUMAN&from=3&to=140&var=E50V	ENST00000357396		ENSG00000170956	1815		71	2.665		HGNC	p.E50V		CEACAM3		SNV							ENST00000344550	protein_coding	getma.org/?cm=var&var=hg19,19,42301605,A,T&fts=all		hmmpanther:PTHR19955:SF110,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726		E/V		T	medium	390/1316		getma.org/?cm=msa&ty=f&p=CEAM3_HUMAN&rb=3&re=140&var=E50V	deleterious(0)	M0QXR5_HUMAN			YES	CEACAM3,missense_variant,p.Glu50Val,ENST00000357396,NM_001815.3;CEACAM3,missense_variant,p.Glu50Val,ENST00000221999,NM_001277163.1;CEACAM3,missense_variant,p.Glu50Val,ENST00000344550,;CEACAM3,missense_variant,p.Glu10Val,ENST00000596544,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000595255,;CEACAM3,missense_variant,p.Glu50Val,ENST00000415495,;CEACAM3,non_coding_transcript_exon_variant,,ENST00000599305,;							MODERATE	149/759	E50V	CEAM3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000349971		CCDS12586.2			1	
CRB1	0	LGGM	GRCh37	1	197390305	197390305	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	34	45	.	.	ENST00000367400.3:c.1347A>G	p.Gln449=	p.Q449=	ENST00000367400	NM_201253.2	449	caA/caG	0	1	1	UPI0000073345	0		ENST00000367400		ENSG00000134376	2343		79			HGNC	p.Q449Q		CRB1		SNV			1				ENST00000484075	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		Q		G		1482/4932				B7Z824_HUMAN			YES	CRB1,synonymous_variant,p.=,ENST00000367400,NM_201253.2;CRB1,synonymous_variant,p.=,ENST00000535699,NM_001257965.1;CRB1,synonymous_variant,p.=,ENST00000367399,NM_001193640.1;CRB1,synonymous_variant,p.=,ENST00000538660,NM_001257966.1;CRB1,synonymous_variant,p.=,ENST00000543483,;CRB1,5_prime_UTR_variant,,ENST00000367397,;CRB1,5_prime_UTR_variant,,ENST00000544212,;CRB1,non_coding_transcript_exon_variant,,ENST00000476483,;CRB1,upstream_gene_variant,,ENST00000480086,;CRB1,synonymous_variant,p.=,ENST00000484075,;							LOW	1347/4221		CRUM1_HUMAN			Transcript			.	ENSP00000356370		CCDS1390.1			1	
SLC17A8	0	LGGM	GRCh37	12	100774538	100774538	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H072999	H072999N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	62	51	.	.	ENST00000323346.5:c.161C>T	p.Pro54Leu	p.P54L	ENST00000323346	NM_001145288.1	54	cCg/cTg	0	1	1	UPI0000073B9B	0	NA	ENST00000323346		ENSG00000179520	20151		113	2.08		HGNC	p.P54L	rs372830647,COSM1365160	SLC17A8		SNV	T:0		1			0,1	ENST00000392989	protein_coding	getma.org/?cm=var&var=hg19,12,100774538,C,T&fts=all		hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207		P/L	T:0.0001	T	medium	474/3983	3.00E-05	getma.org/?cm=msa&ty=f&p=VGLU3_HUMAN&rb=1&re=80&var=P54L	deleterious(0.03)				YES	SLC17A8,missense_variant,p.Pro54Leu,ENST00000323346,NM_001145288.1,NM_139319.2;SLC17A8,missense_variant,p.Pro54Leu,ENST00000392989,;					0,1		MODERATE	161/1770	P54L	VGLU3_HUMAN			Transcript		possibly_damaging(0.509)	.	ENSP00000316909	1.65E-05	CCDS9077.1			1	
PHLPP1	0	LGGM	GRCh37	18	60570206	60570206	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	69	53	.	.	ENST00000262719.5:c.2454A>T	p.Val818=	p.V818=	ENST00000262719		818	gtA/gtT	0	1	1	UPI000051AE2E	0		ENST00000262719		ENSG00000081913	20610		122			HGNC	p.V306V		PHLPP1		SNV							ENST00000400316	protein_coding			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF252,hmmpanther:PTHR23155		V		T		2688/6390							YES	PHLPP1,synonymous_variant,p.=,ENST00000400316,NM_194449.3;PHLPP1,synonymous_variant,p.=,ENST00000262719,;PHLPP1,upstream_gene_variant,,ENST00000591386,;PHLPP1,upstream_gene_variant,,ENST00000591106,;							LOW	2454/5154		PHLP1_HUMAN			Transcript			.	ENSP00000262719		CCDS45881.2			1	
INTS3	0	LGGM	GRCh37	1	153745460	153745460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	38	62	.	.	ENST00000318967.2:c.2954A>G	p.Lys985Arg	p.K985R	ENST00000318967	NM_023015.3	985	aAg/aGg	0	1	1	UPI0000231CA8	0	NA	ENST00000318967		ENSG00000143624	26153		100	1.1		HGNC	p.K985R		INTS3		SNV							ENST00000318967	protein_coding	getma.org/?cm=var&var=hg19,1,153745460,A,G&fts=all		hmmpanther:PTHR13587		K/R		G	low	3522/4506		getma.org/?cm=msa&ty=f&p=INT3_HUMAN&rb=900&re=1043&var=K986R	tolerated(0.5)				YES	INTS3,missense_variant,p.Lys845Arg,ENST00000456435,;INTS3,missense_variant,p.Lys985Arg,ENST00000318967,NM_023015.3;INTS3,missense_variant,p.Lys985Arg,ENST00000435409,;INTS3,missense_variant,p.Lys845Arg,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000271857,;SLC27A3,upstream_gene_variant,,ENST00000368661,NM_024330.1;SLC27A3,upstream_gene_variant,,ENST00000458027,;INTS3,non_coding_transcript_exon_variant,,ENST00000476843,;SLC27A3,upstream_gene_variant,,ENST00000484014,;INTS3,3_prime_UTR_variant,,ENST00000503133,;INTS3,non_coding_transcript_exon_variant,,ENST00000481797,;INTS3,non_coding_transcript_exon_variant,,ENST00000368670,;INTS3,non_coding_transcript_exon_variant,,ENST00000368669,;SLC27A3,upstream_gene_variant,,ENST00000468403,;SLC27A3,upstream_gene_variant,,ENST00000483574,;SLC27A3,upstream_gene_variant,,ENST00000461269,;							MODERATE	2954/3129	K986R	INT3_HUMAN			Transcript		benign(0.004)	.	ENSP00000318641		CCDS1052.1			1	
HIVEP1	0	LGGM	GRCh37	6	12121178	12121178	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H072999	H072999N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072999N.bam, H072999T.bam	Illumina HiSeq	50	66	.	.	ENST00000379388.2:c.1150A>T	p.Asn384Tyr	p.N384Y	ENST00000379388	NM_002114.2	384	Aat/Tat	0	1	1	UPI000020D52B	0	NA	ENST00000379388		ENSG00000095951	4920		116	1.955		HGNC	p.N384Y		HIVEP1		SNV							ENST00000379388	protein_coding	getma.org/?cm=var&var=hg19,6,12121178,A,T&fts=all		hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233		N/Y		T	medium	1482/9027		getma.org/?cm=msa&ty=f&p=ZEP1_HUMAN&rb=308&re=419&var=N384Y	deleterious(0)	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN			YES	HIVEP1,missense_variant,p.Asn384Tyr,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,;							MODERATE	1150/8157	N384Y	ZEP1_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000368698		CCDS43426.1			1	
TCIRG1	0	LGGM	GRCh37	11	67809230	67809230	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	4	2	.	.	ENST00000265686.3:c.128del	p.Ser43TrpfsTer2	p.S43Wfs*2	ENST00000265686	NM_006019.3	43	tCg/tg	0	1	1	UPI000006EC9A	0		ENST00000265686		ENSG00000110719	11647		6			HGNC	p.S43fs		TCIRG1		deletion			1				ENST00000534673	protein_coding			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF21		S/X		-		236/2677				Q6QBN6_HUMAN,E9PM12_HUMAN			YES	TCIRG1,frameshift_variant,p.Ser43TrpfsTer2,ENST00000265686,NM_006019.3;TCIRG1,frameshift_variant,p.Ser29TrpfsTer2,ENST00000524598,;TCIRG1,frameshift_variant,p.Ser43TrpfsTer2,ENST00000529657,;TCIRG1,upstream_gene_variant,,ENST00000532635,NM_006053.3;TCIRG1,upstream_gene_variant,,ENST00000529364,;TCIRG1,frameshift_variant,p.Ser43TrpfsTer2,ENST00000534673,;TCIRG1,non_coding_transcript_exon_variant,,ENST00000533947,;TCIRG1,upstream_gene_variant,,ENST00000525724,;TCIRG1,upstream_gene_variant,,ENST00000533005,;TCIRG1,upstream_gene_variant,,ENST00000528981,;TCIRG1,upstream_gene_variant,,ENST00000527530,;							HIGH	128/2493		VPP3_HUMAN			Transcript			.	ENSP00000265686		CCDS8177.1			1	
RGS14	0	LGGM	GRCh37	5	176797961	176797961	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	6	2	.	.	ENST00000408923.3:c.1183C>A	p.Arg395=	p.R395=	ENST00000408923	NM_006480.4	395	Cgg/Agg	0	1	1	UPI0000163BE6	0		ENST00000408923		ENSG00000169220	9996		8			HGNC	p.R395R		RGS14		SNV							ENST00000408923	protein_coding			PROSITE_profiles:PS50898,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF136,Pfam_domain:PF02196,SMART_domains:SM00455,Superfamily_domains:SSF54236		R		A		1371/2415							YES	RGS14,synonymous_variant,p.=,ENST00000408923,NM_006480.4;RGS14,synonymous_variant,p.=,ENST00000511890,;RGS14,upstream_gene_variant,,ENST00000506944,;RGS14,downstream_gene_variant,,ENST00000503110,;RGS14,non_coding_transcript_exon_variant,,ENST00000425155,;RGS14,non_coding_transcript_exon_variant,,ENST00000514102,;RGS14,non_coding_transcript_exon_variant,,ENST00000502731,;RGS14,downstream_gene_variant,,ENST00000514713,;RGS14,downstream_gene_variant,,ENST00000504631,;RGS14,downstream_gene_variant,,ENST00000512490,;RGS14,downstream_gene_variant,,ENST00000512000,;RGS14,upstream_gene_variant,,ENST00000503044,;RGS14,upstream_gene_variant,,ENST00000509289,;							LOW	1183/1701		RGS14_HUMAN			Transcript			.	ENSP00000386229		CCDS43405.1			1	
CEP164	0	LGGM	GRCh37	11	117265150	117265150	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	9	2	.	.	ENST00000278935.3:c.2701A>G	p.Thr901Ala	p.T901A	ENST00000278935	NM_014956.4	901	Act/Gct	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		11	0.255		HGNC	p.T875A		CEP164		SNV			1				ENST00000529538	protein_coding	getma.org/?cm=var&var=hg19,11,117265150,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		T/A		G	neutral	2848/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=890&re=1050&var=T901A	tolerated(1)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN			YES	CEP164,missense_variant,p.Thr901Ala,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,downstream_gene_variant,,ENST00000529153,;							MODERATE	2701/4383	T901A	CE164_HUMAN			Transcript		benign(0.006)	.	ENSP00000278935		CCDS31683.1			1	
NMUR1	0	LGGM	GRCh37	2	232390099	232390099	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	8	2	.	.	ENST00000305141.4:c.936G>T	p.Pro312=	p.P312=	ENST00000305141	NM_006056.4	312	ccG/ccT	0	1	1	UPI0000071CAE	0		ENST00000305141		ENSG00000171596	4518		10			HGNC	p.P312P		NMUR1		SNV							ENST00000305141	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF109,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		P		A		1070/3298							YES	NMUR1,synonymous_variant,p.=,ENST00000305141,NM_006056.4;							LOW	936/1281		NMUR1_HUMAN			Transcript			.	ENSP00000305877		CCDS2486.1			1	
SMCO2	0	LGGM	GRCh37	12	27654880	27654880	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	38	3	.	.	ENST00000416383.1:c.858C>A	p.Ile286=	p.I286=	ENST00000416383	NM_001145010.1	286	atC/atA	0	1	1	UPI000166275D	0		ENST00000416383		ENSG00000165935	34448		41			HGNC	p.I236I		SMCO2		SNV							ENST00000298876	protein_coding			Pfam_domain:PF14992,hmmpanther:PTHR22422,hmmpanther:PTHR22422:SF5,Transmembrane_helices:TMhelix		I		A		1034/1272							YES	SMCO2,synonymous_variant,p.=,ENST00000416383,NM_001145010.1;SMCO2,synonymous_variant,p.=,ENST00000298876,;SMCO2,synonymous_variant,p.=,ENST00000535986,;SMCO2,non_coding_transcript_exon_variant,,ENST00000541168,;RP13-200J3.2,downstream_gene_variant,,ENST00000542842,;							LOW	858/1032		SMCO2_HUMAN			Transcript			.	ENSP00000387617		CCDS44852.1			1	
CCDC59	0	LGGM	GRCh37	12	82751030	82751030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	3	.	.	ENST00000256151.7:c.173G>T	p.Arg58Leu	p.R58L	ENST00000256151	NM_014167.4	58	cGa/cTa	0	1	1	UPI0000034DFE	0	NA	ENST00000256151		ENSG00000133773	25005		30	1.24		HGNC	p.R58L		CCDC59		SNV							ENST00000256151	protein_coding	getma.org/?cm=var&var=hg19,12,82751030,C,A&fts=all		Prints_domain:PR01854,hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657		R/L		A	low	585/1983		getma.org/?cm=msa&ty=f&p=TAP26_HUMAN&rb=1&re=135&var=R58L	deleterious(0.01)				YES	CCDC59,missense_variant,p.Arg58Leu,ENST00000256151,NM_014167.4;CCDC59,missense_variant,p.Arg58Leu,ENST00000552377,;METTL25,upstream_gene_variant,,ENST00000248306,NM_032230.2;METTL25,upstream_gene_variant,,ENST00000548200,;METTL25,upstream_gene_variant,,ENST00000550058,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552412,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;METTL25,upstream_gene_variant,,ENST00000547985,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,non_coding_transcript_exon_variant,,ENST00000547758,;CCDC59,upstream_gene_variant,,ENST00000550589,;							MODERATE	173/726	R58L	TAP26_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000256151		CCDS9023.1			1	
OTOA	0	LGGM	GRCh37	16	21712237	21712237	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	24	3	.	.	ENST00000388958.3:c.869C>A	p.Ala290Asp	p.A290D	ENST00000388958	NM_144672.3	290	gCc/gAc	0	1		UPI000013DE2F	0	NA	ENST00000286149		ENSG00000155719	16378		27	2.045		HGNC	p.A290D		OTOA		SNV			1				ENST00000286149	protein_coding	getma.org/?cm=var&var=hg19,16,21712237,C,A&fts=all		hmmpanther:PTHR23412,hmmpanther:PTHR23412:SF14		A/D		A	medium	870/3471		getma.org/?cm=msa&ty=f&p=OTOAN_HUMAN&rb=1&re=1127&var=A290D	deleterious(0)	B4DZ38_HUMAN				OTOA,missense_variant,p.Ala290Asp,ENST00000388958,NM_144672.3;OTOA,missense_variant,p.Ala290Asp,ENST00000286149,;OTOA,missense_variant,p.Ala211Asp,ENST00000388956,NM_001161683.1;OTOA,upstream_gene_variant,,ENST00000388957,NM_170664.2;OTOA,upstream_gene_variant,,ENST00000569064,;OTOA,upstream_gene_variant,,ENST00000563871,;							MODERATE	869/3462	A290D	OTOAN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286149					1	
HNF4A	0	LGGM	GRCh37	20	43030077	43030077	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	23	3	.	.	ENST00000316099.4:c.65C>A	p.Ala22Asp	p.A22D	ENST00000316099	NM_001258355.1	22	gCc/gAc	0	1	1	UPI000016A0BA	0	NA	ENST00000316099		ENSG00000101076	5024		26	1.61		HGNC	p.A22D	rs758457314	HNF4A		SNV			1				ENST00000443598	protein_coding	getma.org/?cm=var&var=hg19,20,43030077,C,A&fts=all		hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41		A/D		A	low	154/4694	1.50E-05	getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=1&re=57&var=A22D	deleterious(0.01)	F1D8T1_HUMAN			YES	HNF4A,missense_variant,p.Ala22Asp,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.Ala22Asp,ENST00000415691,;HNF4A,missense_variant,p.Ala22Asp,ENST00000443598,NM_178850.2;HNF4A,intron_variant,,ENST00000316673,;HNF4A,intron_variant,,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,intron_variant,,ENST00000609795,NM_001030004.2;HNF4A,intron_variant,,ENST00000609262,;HNF4A,missense_variant,p.Ala22Asp,ENST00000372920,;							MODERATE	65/1425	A22D	HNF4A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000312987	8.24E-06	CCDS13330.1			1	
LOXHD1	0	LGGM	GRCh37	18	44146254	44146254	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	3	.	.	ENST00000398722.4:c.1569G>T	p.Glu523Asp	p.E523D	ENST00000398722		523	gaG/gaT	0	1	1	UPI0001A595CE	0	NA	ENST00000536736		ENSG00000167210	26521		30	1.425		HGNC	p.E801D		LOXHD1		SNV			1				ENST00000441551	protein_coding	getma.org/?cm=var&var=hg19,18,44146254,C,A&fts=all		PROSITE_profiles:PS50095,hmmpanther:PTHR10877:SF110,hmmpanther:PTHR10877		E/D		A	low	2403/6848		getma.org/?cm=msa&ty=f&p=LOXH1_HUMAN&rb=408&re=525&var=E523D	deleterious(0)	J3KRE7_HUMAN,F5GZB4_HUMAN,C9J269_HUMAN,C9IYQ1_HUMAN				LOXHD1,missense_variant,p.Glu801Asp,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Glu801Asp,ENST00000441551,;LOXHD1,missense_variant,p.Glu523Asp,ENST00000398722,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;							MODERATE	2403/6636	E523D				Transcript		benign(0.422)	.	ENSP00000444586					1	
BPHL	0	LGGM	GRCh37	6	3129325	3129325	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	45	3	.	.	ENST00000380379.5:c.425G>A	p.Gly142Asp	p.G142D	ENST00000380379	NM_004332.2	142	gGc/gAc	0	1	1	UPI000000DC96	0	getma.org/pdb.php?prot=BPHL_HUMAN&from=63&to=285&var=G142D	ENST00000380379		ENSG00000137274	1094		48	3.455		HGNC	p.G125D		BPHL		SNV							ENST00000380368	protein_coding	getma.org/?cm=var&var=hg19,6,3129325,G,A&fts=all		hmmpanther:PTHR10992:SF772,hmmpanther:PTHR10992,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		G/D		A	medium	474/1928		getma.org/?cm=msa&ty=f&p=BPHL_HUMAN&rb=63&re=285&var=G142D	deleterious(0)				YES	BPHL,missense_variant,p.Gly125Asp,ENST00000380368,;BPHL,missense_variant,p.Gly125Asp,ENST00000380375,;BPHL,missense_variant,p.Gly142Asp,ENST00000380379,NM_004332.2;BPHL,missense_variant,p.Gly125Asp,ENST00000434640,;BPHL,missense_variant,p.Gly142Asp,ENST00000433912,;BPHL,3_prime_UTR_variant,,ENST00000430655,;BPHL,3_prime_UTR_variant,,ENST00000424847,;BPHL,non_coding_transcript_exon_variant,,ENST00000490918,;BPHL,non_coding_transcript_exon_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000479273,;							MODERATE	425/876	G142D	BPHL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000369739		CCDS4483.2			1	
VENTX	0	LGGM	GRCh37	10	135053776	135053776	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	4	3	.	.	ENST00000325980.9:c.743T>A	p.Leu248Gln	p.L248Q	ENST00000325980	NM_014468.3	248	cTg/cAg	0	1	1	UPI0000070A25	0	NA	ENST00000325980		ENSG00000151650	13639		7	0.695		HGNC	p.L248Q	rs763177601	VENTX		SNV							ENST00000325980	protein_coding	getma.org/?cm=var&var=hg19,10,135053776,T,A&fts=all		hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF24		L/Q		A	neutral	1254/2911	3.35E-05	getma.org/?cm=msa&ty=f&p=VENTX_HUMAN&rb=149&re=258&var=L248Q	tolerated_low_confidence(0.06)				YES	VENTX,missense_variant,p.Leu248Gln,ENST00000325980,NM_014468.3;							MODERATE	743/777	L248Q	VENTX_HUMAN			Transcript		benign(0.406)	.	ENSP00000357556	1.67E-05	CCDS7675.1			1	
KCNG4	0	LGGM	GRCh37	16	84270897	84270897	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	15	3	.	.	ENST00000308251.4:c.195G>T	p.Val65=	p.V65=	ENST00000308251	NM_172347.2	65	gtG/gtT	0	1	1	UPI00000557D8	0		ENST00000308251		ENSG00000168418	19697		18			HGNC	p.V65V	rs142596437	KCNG4		SNV	G:0.0002						ENST00000308251	protein_coding		G:0	hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF89,Pfam_domain:PF02214,Gene3D:3.30.710.10,Superfamily_domains:SSF54695,Prints_domain:PR01494		V	G:0	A		264/1629	4.65E-05			Q547S7_HUMAN	G:0	G:0	YES	KCNG4,synonymous_variant,p.=,ENST00000568181,;KCNG4,synonymous_variant,p.=,ENST00000308251,NM_172347.2;		G:0.0002					LOW	195/1560		KCNG4_HUMAN		G:0.001	Transcript			.	ENSP00000312129	2.47E-05	CCDS10945.1		G:0	1	
FAM72A	0	LGGM	GRCh37	1	206137482	206137482	+	intron_variant,non_coding_transcript_variant	Intron	SNP	G	G	T	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	28	3	.	.	ENST00000429210.1:n.149+198C>A		*50*	ENST00000429210				0	1	1	UPI0000046C34	0		ENST00000367128		ENSG00000196550	24044		31		975	HGNC	p.E50X		FAM72A		SNV							ENST00000367129	protein_coding							T		-/2398				U3KPW2_HUMAN			YES	FAM72A,stop_gained,p.Glu50Ter,ENST00000367129,;FAM72A,stop_gained,p.Glu50Ter,ENST00000468509,;FAM72A,upstream_gene_variant,,ENST00000367128,;FAM72A,upstream_gene_variant,,ENST00000341209,NM_001123168.1;FAM72A,upstream_gene_variant,,ENST00000607379,;FAM72A,upstream_gene_variant,,ENST00000431655,;RP11-312O7.2,intron_variant,,ENST00000429210,;RP11-312O7.2,intron_variant,,ENST00000606644,;FAM72A,intron_variant,,ENST00000470041,;FAM72A,upstream_gene_variant,,ENST00000481737,;							MODIFIER	-/450		FA72A_HUMAN			Transcript			.	ENSP00000356096		CCDS41458.1			1	
FAM149A	0	LGGM	GRCh37	4	187078815	187078815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	25	3	.	.	ENST00000227065.4:c.671C>A	p.Pro224Gln	p.P224Q	ENST00000227065	NM_015398.2	224	cCg/cAg	0	1		UPI000164286B	0	NA	ENST00000356371		ENSG00000109794	24527		28	1.32		HGNC	p.P224Q	rs138151397	FAM149A		SNV	A:0.0002			9.62E-05			ENST00000514153	protein_coding	getma.org/?cm=var&var=hg19,4,187078815,C,A&fts=all		hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF2		P/Q	A:0	A	low	1544/2997		getma.org/?cm=msa&ty=f&p=F149A_HUMAN&rb=360&re=559&var=P515Q	tolerated(0.06)	D6RGX1_HUMAN,D6RC92_HUMAN,D6RAL4_HUMAN				FAM149A,missense_variant,p.Pro515Gln,ENST00000356371,;FAM149A,missense_variant,p.Pro224Gln,ENST00000227065,NM_015398.2;FAM149A,missense_variant,p.Pro224Gln,ENST00000389354,NM_001006655.2;FAM149A,missense_variant,p.Pro224Gln,ENST00000514153,;FAM149A,missense_variant,p.Pro224Gln,ENST00000503432,;FAM149A,missense_variant,p.Pro224Gln,ENST00000502970,;FAM149A,downstream_gene_variant,,ENST00000504330,;FAM149A,downstream_gene_variant,,ENST00000510790,;FAM149A,downstream_gene_variant,,ENST00000509574,;FAM149A,non_coding_transcript_exon_variant,,ENST00000514829,;FAM149A,non_coding_transcript_exon_variant,,ENST00000513030,;FAM149A,non_coding_transcript_exon_variant,,ENST00000515078,;RP11-173M11.2,upstream_gene_variant,,ENST00000504462,;							MODERATE	1544/2322	P515Q	F149A_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000348732	8.24E-06				1	
ATP8A1	0	LGGM	GRCh37	4	42454028	42454028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	21	3	.	.	ENST00000381668.5:c.2866T>C	p.Phe956Leu	p.F956L	ENST00000381668	NM_006095.2	956	Ttt/Ctt	0	1	1	UPI0000125063	0	NA	ENST00000381668		ENSG00000124406	13531		24	3.21		HGNC	p.F956L		ATP8A1		SNV							ENST00000381668	protein_coding	getma.org/?cm=var&var=hg19,4,42454028,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		F/L		G	medium	3098/8270		getma.org/?cm=msa&ty=f&p=AT8A1_HUMAN&rb=811&re=1010&var=F956L	deleterious(0)	H0YAJ4_HUMAN			YES	ATP8A1,missense_variant,p.Phe956Leu,ENST00000381668,NM_006095.2;ATP8A1,missense_variant,p.Phe941Leu,ENST00000264449,NM_001105529.1;ATP8A1,3_prime_UTR_variant,,ENST00000514372,;ATP8A1,3_prime_UTR_variant,,ENST00000506602,;							MODERATE	2866/3495	F956L	AT8A1_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000371084		CCDS3466.1			1	
STARD3	0	LGGM	GRCh37	17	37814071	37814071	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	47	3	.	.	ENST00000336308.5:c.341C>T	p.Ala114Val	p.A114V	ENST00000336308	NM_006804.3	114	gCc/gTc	0	1	1	UPI000013CE10	0	NA	ENST00000336308		ENSG00000131748	17579		50	2.52		HGNC	p.A114V	COSM1128740	STARD3		SNV						1	ENST00000577248	protein_coding	getma.org/?cm=var&var=hg19,17,37814071,C,T&fts=all		Pfam_domain:PF10457,PROSITE_profiles:PS51439,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF51,Transmembrane_helices:TMhelix		A/V		T	medium	559/2132		getma.org/?cm=msa&ty=f&p=STAR3_HUMAN&rb=47&re=215&var=A114V	deleterious(0)	J3QRG8_HUMAN,J3QLS1_HUMAN,J3KT87_HUMAN,J3KSL3_HUMAN,J3KSH0_HUMAN,C9J555_HUMAN,B3KVT4_HUMAN			YES	STARD3,missense_variant,p.Ala114Val,ENST00000336308,NM_006804.3,NM_001165937.1;STARD3,missense_variant,p.Ala88Val,ENST00000580611,;STARD3,missense_variant,p.Ala114Val,ENST00000394250,NM_001165938.1;STARD3,missense_variant,p.Ala114Val,ENST00000544210,;STARD3,missense_variant,p.Ala114Val,ENST00000443521,;STARD3,missense_variant,p.Ala114Val,ENST00000581894,;STARD3,missense_variant,p.Ala114Val,ENST00000583419,;STARD3,missense_variant,p.Ala114Val,ENST00000577248,;STARD3,missense_variant,p.Ala114Val,ENST00000583718,;STARD3,downstream_gene_variant,,ENST00000579479,;STARD3,downstream_gene_variant,,ENST00000580331,;STARD3,non_coding_transcript_exon_variant,,ENST00000578232,;STARD3,non_coding_transcript_exon_variant,,ENST00000582874,;STARD3,non_coding_transcript_exon_variant,,ENST00000460894,;STARD3,non_coding_transcript_exon_variant,,ENST00000585214,;STARD3,downstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000583639,;STARD3,missense_variant,p.Ala114Val,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000583582,;STARD3,non_coding_transcript_exon_variant,,ENST00000484773,;STARD3,non_coding_transcript_exon_variant,,ENST00000580551,;STARD3,upstream_gene_variant,,ENST00000481171,;STARD3,upstream_gene_variant,,ENST00000584850,;STARD3,upstream_gene_variant,,ENST00000471896,;STARD3,upstream_gene_variant,,ENST00000585269,;STARD3,upstream_gene_variant,,ENST00000578384,;STARD3,upstream_gene_variant,,ENST00000578686,;STARD3,upstream_gene_variant,,ENST00000583884,;					1		MODERATE	341/1338	A114V	STAR3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000337446		CCDS11341.1			1	
TDRD15	0	LGGM	GRCh37	2	21363329	21363329	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	22	32	.	.	ENST00000405799.1:c.2990A>T	p.Lys997Ile	p.K997I	ENST00000405799		997	aAa/aTa	0	1	1	UPI000173A3F5	0		ENST00000405799		ENSG00000218819	45037		54			HGNC	p.K997I		TDRD15		SNV							ENST00000405799	protein_coding			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF2,Pfam_domain:PF00567,Gene3D:2.30.30.140,Superfamily_domains:SSF63748		K/I		T		3320/6135			deleterious(0)				YES	TDRD15,missense_variant,p.Lys997Ile,ENST00000405799,;							MODERATE	2990/5805		TDR15_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000384376					1	
CELSR1	0	LGGM	GRCh37	22	46780440	46780440	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	3	4	.	.	ENST00000262738.3:c.6883G>C	p.Glu2295Gln	p.E2295Q	ENST00000262738	NM_014246.1	2295	Gaa/Caa	0	1	1	UPI0000040648	0	NA	ENST00000262738		ENSG00000075275	1850		7	1.39		HGNC	p.E2295Q		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46780440,C,G&fts=all		Pfam_domain:PF12003,hmmpanther:PTHR24026		E/Q		G	low	6883/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=2122&re=2382&var=E2295Q	tolerated(0.53)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.Glu2295Gln,ENST00000262738,NM_014246.1;							MODERATE	6883/9045	E2295Q	CELR1_HUMAN			Transcript		benign(0.242)	.	ENSP00000262738		CCDS14076.1			1	
ZNF492	0	LGGM	GRCh37	19	22847983	22847983	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	37	4	.	.	ENST00000456783.2:c.1512C>A	p.Leu504=	p.L504=	ENST00000456783	NM_020855.2	504	ctC/ctA	0	1	1	UPI00001C200B	0		ENST00000456783		ENSG00000229676	23707		41			HGNC	p.L504L		ZNF492		SNV							ENST00000456783	protein_coding			PROSITE_profiles:PS50157,Superfamily_domains:SSF57667		L		A		1756/4245							YES	ZNF492,synonymous_variant,p.=,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;							LOW	1512/1596		ZN492_HUMAN			Transcript			.	ENSP00000413660		CCDS46032.1			1	
LUM	0	LGGM	GRCh37	12	91502014	91502014	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	75	4	.	.	ENST00000266718.4:c.743G>A	p.Gly248Glu	p.G248E	ENST00000266718	NM_002345.3	248	gGa/gAa	0	1	1	UPI0000001C4D	0	getma.org/pdb.php?prot=LUM_HUMAN&from=205&to=266&var=G248E	ENST00000266718		ENSG00000139329	6724		79	-0.38		HGNC	p.G248E	COSM1706024	LUM		SNV						1	ENST00000266718	protein_coding	getma.org/?cm=var&var=hg19,12,91502014,C,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF54,Superfamily_domains:SSF52058		G/E		T	neutral	1198/3008		getma.org/?cm=msa&ty=f&p=LUM_HUMAN&rb=205&re=266&var=G248E	tolerated(0.09)				YES	LUM,missense_variant,p.Gly248Glu,ENST00000266718,NM_002345.3;LUM,non_coding_transcript_exon_variant,,ENST00000548071,;LUM,non_coding_transcript_exon_variant,,ENST00000546642,;					1		MODERATE	743/1017	G248E	LUM_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000266718		CCDS9038.1			1	
PLOD2	0	LGGM	GRCh37	3	145788874	145788874	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	6	4	.	.	ENST00000282903.5:c.2076A>G	p.Thr692=	p.T692=	ENST00000282903	NM_182943.2	692	acA/acG	0	1		UPI000013DD08	0		ENST00000360060		ENSG00000152952	9082		10			HGNC	p.T671T		PLOD2		SNV			1				ENST00000360060	protein_coding			Pfam_domain:PF03171,PROSITE_patterns:PS01325,PROSITE_profiles:PS51471,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF6,SMART_domains:SM00702		T		C		2191/3665				Q96AR9_HUMAN				PLOD2,synonymous_variant,p.=,ENST00000282903,NM_182943.2;PLOD2,synonymous_variant,p.=,ENST00000360060,NM_000935.2;PLOD2,synonymous_variant,p.=,ENST00000461497,;PLOD2,synonymous_variant,p.=,ENST00000494950,;AC107021.1,downstream_gene_variant,,ENST00000422482,;RP11-274H2.2,intron_variant,,ENST00000480247,;RP11-274H2.3,upstream_gene_variant,,ENST00000490375,;RP11-274H2.2,downstream_gene_variant,,ENST00000494745,;PLOD2,non_coding_transcript_exon_variant,,ENST00000495700,;PLOD2,downstream_gene_variant,,ENST00000478436,;PLOD2,downstream_gene_variant,,ENST00000475505,;							LOW	2013/2214		PLOD2_HUMAN			Transcript			.	ENSP00000353170		CCDS3131.1			1	
ONECUT2	0	LGGM	GRCh37	18	55143947	55143947	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	17	4	.	.	ENST00000491143.2:c.1507A>C	p.Lys503Gln	p.K503Q	ENST00000491143	NM_004852.2	503	Aaa/Caa	0	1	1	UPI0000201DC1	0	getma.org/pdb.php?prot=ONEC2_HUMAN&from=483&to=504&var=K503Q	ENST00000491143		ENSG00000119547	8139		21	1.795		HGNC	p.K484Q		ONECUT2		SNV							ENST00000491143	protein_coding	getma.org/?cm=var&var=hg19,18,55143947,A,C&fts=all				K/Q		C	low	1539/16121		getma.org/?cm=msa&ty=f&p=ONEC2_HUMAN&rb=453&re=504&var=K503Q	deleterious_low_confidence(0)				YES	ONECUT2,missense_variant,p.Lys503Gln,ENST00000491143,NM_004852.2;ONECUT2,missense_variant,p.Lys132Gln,ENST00000481727,;							MODERATE	1507/1515	K503Q	ONEC2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000419185		CCDS42440.1			1	
BRD7	0	LGGM	GRCh37	16	50357576	50357576	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	11	9	.	.	ENST00000394689.2:c.1365T>A	p.Tyr455Ter	p.Y455*	ENST00000394689	NM_001173984.2	455	taT/taA	0	1		UPI0000073E3C	0	NA	ENST00000394688		ENSG00000166164	14310		20	0		HGNC	p.Y455X		BRD7		SNV							ENST00000394689	protein_coding	getma.org/?cm=var&var=hg19,16,50357576,A,T&fts=all		Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12		Y/*		T	NA	1525/5370		NA		I3L4V5_HUMAN,I3L0Y7_HUMAN				BRD7,stop_gained,p.Tyr455Ter,ENST00000394688,;BRD7,stop_gained,p.Tyr455Ter,ENST00000394689,NM_001173984.2,NM_013263.4;BRD7,upstream_gene_variant,,ENST00000562383,;BRD7,upstream_gene_variant,,ENST00000569774,;							HIGH	1365/1956	Y455*	BRD7_HUMAN			Transcript			.	ENSP00000378180		CCDS10742.1			1	
RC3H2	0	LGGM	GRCh37	9	125642154	125642154	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	29	6	.	.	ENST00000373670.1:c.1094-2A>C		p.X365_splice	ENST00000373670				0	1		UPI0000048D91	0		ENST00000357244		ENSG00000056586	21461		35			HGNC	-		RC3H2		SNV							ENST00000373670	protein_coding							G		-/3991								RC3H2,splice_acceptor_variant,,ENST00000373670,;RC3H2,splice_acceptor_variant,,ENST00000357244,NM_001100588.1;RC3H2,splice_acceptor_variant,,ENST00000423239,NM_018835.2;RC3H2,splice_acceptor_variant,,ENST00000335387,;RC3H2,splice_acceptor_variant,,ENST00000373665,;SNORD90,downstream_gene_variant,,ENST00000391145,NR_003071.1;RC3H2,splice_acceptor_variant,,ENST00000498479,;							HIGH	1094/3576		RC3H2_HUMAN			Transcript			.	ENSP00000349783		CCDS43874.1			1	
CYP3A5	0	LGGM	GRCh37	7	99258258	99258258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	39	6	.	.	ENST00000222982.4:c.890C>T	p.Ala297Val	p.A297V	ENST00000222982	NM_000777.3	297	gCc/gTc	0	1	1	UPI000000163D	0	getma.org/pdb.php?prot=CP3A5_HUMAN&from=38&to=492&var=A297V	ENST00000222982		ENSG00000106258	2638		45	3.995		HGNC	p.A287V		CYP3A5		SNV			1				ENST00000343703	protein_coding	getma.org/?cm=var&var=hg19,7,99258258,G,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF3,Superfamily_domains:SSF48264		A/V		A	high	990/1720		getma.org/?cm=msa&ty=f&p=CP3A5_HUMAN&rb=38&re=492&var=A297V	deleterious(0.04)	Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN			YES	CYP3A5,missense_variant,p.Ala287Val,ENST00000343703,;CYP3A5,missense_variant,p.Ala297Val,ENST00000222982,NM_000777.3;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000481825,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000473347,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000463364,;CYP3A5,downstream_gene_variant,,ENST00000466061,;CYP3A5,upstream_gene_variant,,ENST00000488187,;							MODERATE	890/1509	A297V	CP3A5_HUMAN			Transcript		benign(0.369)	.	ENSP00000222982		CCDS5672.1			1	
MAP3K9	0	LGGM	GRCh37	14	71197557	71197557	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	13	6	.	.	ENST00000555993.2:c.2897G>A	p.Ser966Asn	p.S966N	ENST00000555993	NM_033141.2	966	aGc/aAc	0	1		UPI0000D62427	0	NA	ENST00000554752		ENSG00000006432	6861		19	1.445		HGNC	p.S952N		MAP3K9		SNV							ENST00000554752	protein_coding	getma.org/?cm=var&var=hg19,14,71197557,C,T&fts=all		PIRSF_domain:PIRSF000556		S/N		T	low	2855/11169		getma.org/?cm=msa&ty=f&p=M3K9_HUMAN&rb=424&re=1102&var=S952N	tolerated(0.15)	Q8NEB1_HUMAN,B4DSG3_HUMAN,B3KRI5_HUMAN				MAP3K9,missense_variant,p.Ser952Asn,ENST00000554752,NM_001284230.1;MAP3K9,missense_variant,p.Ser966Asn,ENST00000555993,NM_033141.2;MAP3K9,missense_variant,p.Ser929Asn,ENST00000381250,;MAP3K9,missense_variant,p.Ser685Asn,ENST00000553414,NM_001284232.1;MAP3K9,missense_variant,p.Ser680Asn,ENST00000554146,;							MODERATE	2855/3315	S952N	M3K9_HUMAN			Transcript		benign(0.037)	.	ENSP00000451612		CCDS61488.1			1	
SELPLG	0	LGGM	GRCh37	12	109018064	109018064	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	9	6	.	.	ENST00000228463.6:c.68T>A	p.Leu23Gln	p.L23Q	ENST00000228463	NM_001206609.1	23	cTg/cAg	0	1		UPI0000135861	0	NA	ENST00000550948		ENSG00000110876	10722		15	1.04		HGNC	p.L7Q		SELPLG		SNV							ENST00000388962	protein_coding	getma.org/?cm=var&var=hg19,12,109018064,A,T&fts=all		hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/Q		T	low	245/2256		getma.org/?cm=msa&ty=f&p=SELPL_HUMAN&rb=1&re=100&var=L7Q	deleterious(0.01)	B4DT54_HUMAN				SELPLG,missense_variant,p.Leu7Gln,ENST00000388962,NM_003006.4;SELPLG,missense_variant,p.Leu7Gln,ENST00000550948,;SELPLG,missense_variant,p.Leu23Gln,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;							MODERATE	20/1239	L7Q	SELPL_HUMAN			Transcript		unknown(0)	.	ENSP00000447752		CCDS31895.2			1	
COL6A2	0	LGGM	GRCh37	21	47532062	47532062	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	29	6	.	.	ENST00000300527.4:c.285C>A	p.Arg95=	p.R95=	ENST00000300527	NM_001849.3	95	cgC/cgA	0	1	1	UPI00001AECE0	0		ENST00000300527		ENSG00000142173	2212		35			HGNC	p.R95R		COL6A2		SNV			1				ENST00000436769	protein_coding			PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300		R		A		389/3461				C9JH44_HUMAN			YES	COL6A2,synonymous_variant,p.=,ENST00000300527,NM_001849.3;COL6A2,synonymous_variant,p.=,ENST00000310645,NM_058175.2;COL6A2,synonymous_variant,p.=,ENST00000409416,;COL6A2,synonymous_variant,p.=,ENST00000357838,NM_058174.2;COL6A2,synonymous_variant,p.=,ENST00000397763,;COL6A2,synonymous_variant,p.=,ENST00000436769,;COL6A2,upstream_gene_variant,,ENST00000460886,;COL6A2,upstream_gene_variant,,ENST00000485591,;							LOW	285/3060		CO6A2_HUMAN			Transcript			.	ENSP00000300527		CCDS13728.1			1	
UNC80	0	LGGM	GRCh37	2	210840884	210840884	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	10	6	.	.	ENST00000439458.1:c.8431A>T	p.Ser2811Cys	p.S2811C	ENST00000439458	NM_032504.1	2811	Agc/Tgc	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		16	0		HGNC	p.S257C		UNC80		SNV							ENST00000539183	protein_coding	getma.org/?cm=var&var=hg19,2,210840884,A,T&fts=all		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		S/C		T	neutral	8511/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=1171&re=2869&var=S2811C					YES	UNC80,missense_variant,p.Ser2811Cys,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Ser2806Cys,ENST00000272845,NM_182587.3;UNC80,missense_variant,p.Ser337Cys,ENST00000333907,;UNC80,missense_variant,p.Ser257Cys,ENST00000539183,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;							MODERATE	8431/9777	S2811C	UNC80_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000391088		CCDS46504.1			1	
ASB10	0	LGGM	GRCh37	7	150878348	150878348	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	8	6	.	.	ENST00000420175.2:c.782A>T	p.Gln261Leu	p.Q261L	ENST00000420175		261	cAg/cTg	0	1	1	UPI000020F32F	0	getma.org/pdb.php?prot=ASB10_HUMAN&from=185&to=291&var=Q261L	ENST00000420175		ENSG00000146926	17185		14	-0.27		HGNC	p.Q261L		ASB10		SNV			1				ENST00000420175	protein_coding	getma.org/?cm=var&var=hg19,7,150878348,T,A&fts=all		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF33,SMART_domains:SM00248,Superfamily_domains:SSF48403		Q/L		A	neutral	807/1694		getma.org/?cm=msa&ty=f&p=ASB10_HUMAN&rb=185&re=291&var=Q261L	tolerated(0.22)				YES	ASB10,missense_variant,p.Gln306Leu,ENST00000422024,NM_001142459.1;ASB10,missense_variant,p.Gln306Leu,ENST00000434669,NM_001142460.1;ASB10,missense_variant,p.Gln261Leu,ENST00000275838,;ASB10,missense_variant,p.Gln246Leu,ENST00000377867,NM_080871.3;ASB10,missense_variant,p.Gln261Leu,ENST00000420175,;							MODERATE	782/1404	Q261L	ASB10_HUMAN			Transcript		benign(0.002)	.	ENSP00000391137		CCDS47750.2			1	
COL17A1	0	LGGM	GRCh37	10	105811250	105811250	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	11	6	.	.	ENST00000353479.5:c.2027A>T	p.Gln676Leu	p.Q676L	ENST00000353479	NM_000494.3	676	cAg/cTg	0	1	1	UPI000006DB58	0	getma.org/pdb.php?prot=COHA1_HUMAN&from=625&to=748&var=Q676L	ENST00000353479		ENSG00000065618	2194		17	1.78		HGNC	p.Q676L		COL17A1		SNV			1				ENST00000353479	protein_coding	getma.org/?cm=var&var=hg19,10,105811250,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF455,hmmpanther:PTHR24023		Q/L		A	low	2318/5734		getma.org/?cm=msa&ty=f&p=COHA1_HUMAN&rb=625&re=748&var=Q676L					YES	COL17A1,missense_variant,p.Gln676Leu,ENST00000353479,NM_000494.3;COL17A1,missense_variant,p.Gln676Leu,ENST00000369733,;MIR936,upstream_gene_variant,,ENST00000401264,;COL17A1,downstream_gene_variant,,ENST00000480127,;							MODERATE	2027/4494	Q676L	COHA1_HUMAN			Transcript		unknown(0)	.	ENSP00000340937		CCDS7554.1			1	
IDH3A	0	LGGM	GRCh37	15	78456115	78456115	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	17	7	.	.	ENST00000299518.2:c.772A>T	p.Ile258Phe	p.I258F	ENST00000299518	NM_005530.2	258	Atc/Ttc	0	1	1	UPI000012D1AC	0	getma.org/pdb.php?prot=IDH3A_HUMAN&from=33&to=358&var=I258F	ENST00000299518		ENSG00000166411	5384		24	3.92		HGNC	p.I223F		IDH3A		SNV							ENST00000558554	protein_coding	getma.org/?cm=var&var=hg19,15,78456115,A,T&fts=all		Gene3D:3.40.718.10,Pfam_domain:PF00180,PROSITE_patterns:PS00470,hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF34,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00175		I/F		T	high	855/4128		getma.org/?cm=msa&ty=f&p=IDH3A_HUMAN&rb=33&re=358&var=I258F	deleterious(0)	H0YM64_HUMAN,H0YLI6_HUMAN,H0YKD0_HUMAN,B7Z9J8_HUMAN,B4DJB4_HUMAN			YES	IDH3A,missense_variant,p.Ile258Phe,ENST00000299518,NM_005530.2;IDH3A,missense_variant,p.Ile223Phe,ENST00000558554,;IDH3A,missense_variant,p.Ile149Phe,ENST00000441490,;IDH3A,missense_variant,p.Ile20Phe,ENST00000561366,;IDH3A,intron_variant,,ENST00000559205,;ACSBG1,downstream_gene_variant,,ENST00000258873,NM_001199377.1,NM_015162.4;IDH3A,downstream_gene_variant,,ENST00000559186,;IDH3A,downstream_gene_variant,,ENST00000559881,;IDH3A,downstream_gene_variant,,ENST00000557826,;IDH3A,downstream_gene_variant,,ENST00000561279,;IDH3A,non_coding_transcript_exon_variant,,ENST00000558535,;IDH3A,3_prime_UTR_variant,,ENST00000560667,;IDH3A,3_prime_UTR_variant,,ENST00000559803,;IDH3A,3_prime_UTR_variant,,ENST00000558933,;IDH3A,non_coding_transcript_exon_variant,,ENST00000559889,;IDH3A,non_coding_transcript_exon_variant,,ENST00000558602,;IDH3A,downstream_gene_variant,,ENST00000558509,;IDH3A,downstream_gene_variant,,ENST00000559865,;IDH3A,downstream_gene_variant,,ENST00000559106,;IDH3A,upstream_gene_variant,,ENST00000558016,;IDH3A,downstream_gene_variant,,ENST00000560396,;IDH3A,upstream_gene_variant,,ENST00000557960,;							MODERATE	772/1101	I258F	IDH3A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000299518		CCDS10297.1			1	
CCDC171	0	LGGM	GRCh37	9	15744775	15744775	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	9	7	.	.	ENST00000380701.3:c.2554A>G	p.Lys852Glu	p.K852E	ENST00000380701	NM_173550.2	852	Aaa/Gaa	0	1	1	UPI000021C44B	0	NA	ENST00000380701		ENSG00000164989	29828		16	0.55		HGNC	p.K852E		CCDC171		SNV							ENST00000297641	protein_coding	getma.org/?cm=var&var=hg19,9,15744775,A,G&fts=all				K/E		G	neutral	2882/6512		getma.org/?cm=msa&ty=f&p=CC171_HUMAN&rb=801&re=1000&var=K852E	tolerated(0.15)	Q8NCV3_HUMAN			YES	CCDC171,missense_variant,p.Lys852Glu,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Lys852Glu,ENST00000297641,;CCDC171,missense_variant,p.Lys92Glu,ENST00000449575,;							MODERATE	2554/3981	K852E	CC171_HUMAN			Transcript		benign(0.157)	.	ENSP00000370077		CCDS6481.1			1	
ACTL7A	0	LGGM	GRCh37	9	111625006	111625006	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	14	7	.	.	ENST00000333999.3:c.404T>A	p.Leu135Gln	p.L135Q	ENST00000333999	NM_006687.2	135	cTg/cAg	0	1	1	UPI0000125052	0	getma.org/pdb.php?prot=ACL7A_HUMAN&from=66&to=435&var=L135Q	ENST00000333999		ENSG00000187003	161		21	2.915		HGNC	p.L135Q		ACTL7A		SNV							ENST00000333999	protein_coding	getma.org/?cm=var&var=hg19,9,111625006,T,A&fts=all		hmmpanther:PTHR11937:SF167,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		L/Q		A	medium	404/1433		getma.org/?cm=msa&ty=f&p=ACL7A_HUMAN&rb=66&re=435&var=L135Q	deleterious(0)				YES	ACTL7A,missense_variant,p.Leu135Gln,ENST00000333999,NM_006687.2;IKBKAP,downstream_gene_variant,,ENST00000374647,NM_003640.3;IKBKAP,downstream_gene_variant,,ENST00000495759,;							MODERATE	404/1308	L135Q	ACL7A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000334300		CCDS6772.1			1	
HCN4	0	LGGM	GRCh37	15	73621931	73621931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	15	7	.	.	ENST00000261917.3:c.1573C>T	p.Arg525Cys	p.R525C	ENST00000261917	NM_005477.2	525	Cgc/Tgc	0	1	1	UPI000003FFB5	0	getma.org/pdb.php?prot=HCN4_HUMAN&from=514&to=612&var=R525C	ENST00000261917		ENSG00000138622	16882		22	2.755		HGNC	p.R525C	COSM434254	HCN4		SNV			1			1	ENST00000261917	protein_coding	getma.org/?cm=var&var=hg19,15,73621931,G,A&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:3bpzA01,Superfamily_domains:SSF51206		R/C		A	medium	2567/7228		getma.org/?cm=msa&ty=f&p=HCN4_HUMAN&rb=514&re=612&var=R525C	deleterious(0)				YES	HCN4,missense_variant,p.Arg525Cys,ENST00000261917,NM_005477.2;					1		MODERATE	1573/3612	R525C	HCN4_HUMAN			Transcript		unknown(0)	.	ENSP00000261917		CCDS10248.1			1	
ZNF790	0	LGGM	GRCh37	19	37310515	37310515	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	8	.	.	ENST00000356725.4:c.731A>T	p.His244Leu	p.H244L	ENST00000356725	NM_206894.3	244	cAt/cTt	0	1	1	UPI0000160EF0	0	getma.org/pdb.php?prot=ZN790_HUMAN&from=240&to=264&var=H244L	ENST00000356725		ENSG00000197863	33114		35	3.525		HGNC	p.H244L		ZNF790		SNV							ENST00000356725	protein_coding	getma.org/?cm=var&var=hg19,19,37310515,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/L		A	high	852/3037		getma.org/?cm=msa&ty=f&p=ZN790_HUMAN&rb=220&re=284&var=H244L	deleterious(0)	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN			YES	ZNF790,missense_variant,p.His244Leu,ENST00000356725,NM_206894.3,NM_001242802.1;ZNF790,downstream_gene_variant,,ENST00000528994,NM_001242801.1;ZNF790,downstream_gene_variant,,ENST00000586323,NM_001242800.1;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;							MODERATE	731/1911	H244L	ZN790_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349161		CCDS12496.1			1	
SULF1	0	LGGM	GRCh37	8	70539499	70539499	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	17	8	.	.	ENST00000260128.4:c.1905G>C	p.Ser635=	p.S635=	ENST00000260128	NM_015170.2	635	tcG/tcC	0	1	1	UPI000003FD82	0		ENST00000260128		ENSG00000137573	20391		25			HGNC	p.S635S		SULF1		SNV							ENST00000458141	protein_coding			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Pfam_domain:PF12548,PIRSF_domain:PIRSF036665		S		C		2622/5710				Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN			YES	SULF1,synonymous_variant,p.=,ENST00000260128,NM_015170.2;SULF1,synonymous_variant,p.=,ENST00000458141,NM_001128204.1;SULF1,synonymous_variant,p.=,ENST00000402687,NM_001128205.1;SULF1,synonymous_variant,p.=,ENST00000419716,NM_001128206.1;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,non_coding_transcript_exon_variant,,ENST00000524731,;SULF1,upstream_gene_variant,,ENST00000531512,;							LOW	1905/2616		SULF1_HUMAN			Transcript			.	ENSP00000260128		CCDS6204.1			1	
FLCN	0	LGGM	GRCh37	17	17131230	17131230	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	9	8	.	.	ENST00000285071.4:c.222G>A	p.Pro74=	p.P74=	ENST00000285071	NM_144997.5	74	ccG/ccA	0	1	1	UPI0000071D7A	0		ENST00000285071		ENSG00000154803	27310		17			HGNC	p.P74P	rs770311645	FLCN		SNV			1				ENST00000285071	protein_coding			hmmpanther:PTHR31441		P		T		677/3638	3.00E-05			J3QQZ7_HUMAN,C9J4C4_HUMAN			YES	FLCN,synonymous_variant,p.=,ENST00000285071,NM_144997.5;FLCN,synonymous_variant,p.=,ENST00000389169,NM_144606.5;FLCN,synonymous_variant,p.=,ENST00000417064,;FLCN,downstream_gene_variant,,ENST00000461699,;FLCN,non_coding_transcript_exon_variant,,ENST00000389168,;FLCN,non_coding_transcript_exon_variant,,ENST00000389171,;RP11-45M22.4,intron_variant,,ENST00000427497,;FLCN,upstream_gene_variant,,ENST00000466317,;FLCN,upstream_gene_variant,,ENST00000480316,;FLCN,downstream_gene_variant,,ENST00000473853,;							LOW	222/1740		FLCN_HUMAN			Transcript			.	ENSP00000285071	1.65E-05	CCDS32579.1			1	
PHF10	0	LGGM	GRCh37	6	170112621	170112621	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	18	8	.	.	ENST00000339209.4:c.818A>G	p.Glu273Gly	p.E273G	ENST00000339209	NM_133325.2	273	gAg/gGg	0	1	1	UPI0000EE1F6E	0	NA	ENST00000339209		ENSG00000130024	18250		26	2.605		HGNC	p.E271G		PHF10		SNV							ENST00000366780	protein_coding	getma.org/?cm=var&var=hg19,6,170112621,T,C&fts=all		hmmpanther:PTHR10615		E/G		C	medium	942/1719		getma.org/?cm=msa&ty=f&p=PHF10_HUMAN&rb=15&re=368&var=E273G	deleterious(0)	S5FMB0_HUMAN			YES	PHF10,missense_variant,p.Glu273Gly,ENST00000339209,NM_133325.2,NM_018288.3;PHF10,missense_variant,p.Glu271Gly,ENST00000366780,;PHF10,non_coding_transcript_exon_variant,,ENST00000480008,;							MODERATE	818/1497	E273G	PHF10_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000341805		CCDS5308.2			1	
FBXO31	0	LGGM	GRCh37	16	87365100	87365100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	2	8	.	.	ENST00000311635.7:c.1414C>T	p.Leu472Phe	p.L472F	ENST00000311635	NM_024735.3	472	Ctc/Ttc	0	1	1	UPI000021D235	0	NA	ENST00000311635		ENSG00000103264	16510		10	1.995		HGNC	p.L472F		FBXO31		SNV			1				ENST00000311635	protein_coding	getma.org/?cm=var&var=hg19,16,87365100,G,A&fts=all		hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF126		L/F		A	medium	1427/5934		getma.org/?cm=msa&ty=f&p=FBX31_HUMAN&rb=314&re=513&var=L472F	tolerated(0.17)	H3BUC7_HUMAN			YES	FBXO31,missense_variant,p.Leu472Phe,ENST00000311635,NM_024735.3,NM_001282683.1;RP11-178L8.4,intron_variant,,ENST00000568879,;FBXO31,downstream_gene_variant,,ENST00000563113,;RP11-178L8.8,downstream_gene_variant,,ENST00000602665,;FBXO31,3_prime_UTR_variant,,ENST00000565593,;							MODERATE	1414/1620	L472F	FBX31_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000310841		CCDS32501.1			1	
MYO5A	0	LGGM	GRCh37	15	52662528	52662528	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	22	8	.	.	ENST00000399231.3:c.2904A>T	p.Leu968Phe	p.L968F	ENST00000399231	NM_000259.3	968	ttA/ttT	0	1	1	UPI0000E445E1	0	getma.org/pdb.php?prot=MYO5A_HUMAN&from=930&to=1098&var=L968F	ENST00000399231		ENSG00000197535	7602		30	0.75		HGNC	p.L968F		MYO5A		SNV			1				ENST00000553916	protein_coding	getma.org/?cm=var&var=hg19,15,52662528,T,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF273		L/F		A	neutral	3148/12225		getma.org/?cm=msa&ty=f&p=MYO5A_HUMAN&rb=930&re=1098&var=L968F	deleterious(0)	Q9UES4_HUMAN			YES	MYO5A,missense_variant,p.Leu968Phe,ENST00000399231,NM_000259.3;MYO5A,missense_variant,p.Leu968Phe,ENST00000399233,;MYO5A,missense_variant,p.Leu968Phe,ENST00000358212,;MYO5A,missense_variant,p.Leu968Phe,ENST00000356338,NM_001142495.1;MYO5A,missense_variant,p.Leu968Phe,ENST00000553916,;MYO5A,3_prime_UTR_variant,,ENST00000556196,;							MODERATE	2904/5568	L968F	MYO5A_HUMAN			Transcript		benign(0.347)	.	ENSP00000382177		CCDS42037.1			1	
SNAP47	0	LGGM	GRCh37	1	227935435	227935435	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	49	8	.	.	ENST00000366759.4:c.133C>G	p.Gln45Glu	p.Q45E	ENST00000366759	NM_053052.3	45	Cag/Gag	0	1		UPI0001A336B9	0	NA	ENST00000315781		ENSG00000143740	30669		57	0		HGNC	p.Q45E		SNAP47		SNV							ENST00000315781	protein_coding	getma.org/?cm=var&var=hg19,1,227935435,C,G&fts=all				Q/E		G	neutral	547/1755		getma.org/?cm=msa&ty=f&p=SNP47_HUMAN&rb=1&re=45&var=Q45E	deleterious_low_confidence(0.02)					SNAP47,missense_variant,p.Gln37Glu,ENST00000426344,;SNAP47,missense_variant,p.Gln45Glu,ENST00000366759,NM_053052.3;SNAP47,missense_variant,p.Gln45Glu,ENST00000315781,;SNAP47,intron_variant,,ENST00000418653,;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000606873,;SNAP47-AS1,upstream_gene_variant,,ENST00000413347,;SNAP47,non_coding_transcript_exon_variant,,ENST00000475930,;SNAP47,non_coding_transcript_exon_variant,,ENST00000470038,;SNAP47,intron_variant,,ENST00000491439,;SNAP47,upstream_gene_variant,,ENST00000478768,;							MODERATE	133/1341	Q45E	SNP47_HUMAN			Transcript		benign(0.186)	.	ENSP00000314157					1	
ASTN1	0	LGGM	GRCh37	1	176833577	176833577	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	70	9	.	.	ENST00000361833.2:c.3728T>A	p.Leu1243Ter	p.L1243*	ENST00000361833		1243	tTg/tAg	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		79	0		HGNC	p.L1251X		ASTN1		SNV							ENST00000367654	protein_coding	getma.org/?cm=var&var=hg19,1,176833577,A,T&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8		L/*		T	NA	3742/7116		NA		Q96BL7_HUMAN			YES	ASTN1,stop_gained,p.Leu1251Ter,ENST00000367654,NM_004319.1;ASTN1,stop_gained,p.Leu1243Ter,ENST00000361833,;ASTN1,intron_variant,,ENST00000367657,NM_001286164.1;ASTN1,downstream_gene_variant,,ENST00000424564,NM_207108.1;							HIGH	3728/3885	L1251*	ASTN1_HUMAN			Transcript			.	ENSP00000354536		CCDS1319.1			1	
HOXA1	0	LGGM	GRCh37	7	27135062	27135062	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	26	9	.	.	ENST00000343060.4:c.470C>A	p.Pro157His	p.P157H	ENST00000343060	NM_005522.4	157	cCt/cAt	0	1	1	UPI000013C80E	0	NA	ENST00000343060		ENSG00000105991	5099		35	0.69		HGNC	p.P157H		HOXA1		SNV			1				ENST00000343060	protein_coding	getma.org/?cm=var&var=hg19,7,27135062,G,T&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF158		P/H		T	neutral	532/2517		getma.org/?cm=msa&ty=f&p=HXA1_HUMAN&rb=1&re=178&var=P157H	tolerated(0.54)				YES	HOXA1,missense_variant,p.Pro157His,ENST00000343060,NM_005522.4;HOXA1,intron_variant,,ENST00000355633,NM_153620.2;HOXA2,downstream_gene_variant,,ENST00000222718,NM_006735.3;HOTAIRM1,upstream_gene_variant,,ENST00000428939,;HOTAIRM1,upstream_gene_variant,,ENST00000429611,;HOTAIRM1,upstream_gene_variant,,ENST00000434063,;HOTAIRM1,upstream_gene_variant,,ENST00000593300,;HOTAIRM1,upstream_gene_variant,,ENST00000425358,;HOTAIRM1,upstream_gene_variant,,ENST00000495032,;							MODERATE	470/1008	P157H	HXA1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000343246		CCDS5401.1			1	
CNTNAP2	0	LGGM	GRCh37	7	148112685	148112685	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	15	9	.	.	ENST00000361727.3:c.3973A>T	p.Ser1325Cys	p.S1325C	ENST00000361727	NM_014141.5	1325	Agc/Tgc	0	1	1	UPI00001285FA	0	NA	ENST00000361727		ENSG00000174469	13830		24	0.995		HGNC	p.S1325C		CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,148112685,A,T&fts=all				S/C		T	low	4489/9894		getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=1188&re=1331&var=S1325C	tolerated(0.53)	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			YES	CNTNAP2,missense_variant,p.Ser1325Cys,ENST00000361727,NM_014141.5;CNTNAP2,missense_variant,p.Ser384Cys,ENST00000538075,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000463592,;CNTNAP2,non_coding_transcript_exon_variant,,ENST00000602734,;							MODERATE	3973/3996	S1325C	CNTP2_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000354778		CCDS5889.1			1	
CEP41	0	LGGM	GRCh37	7	130039880	130039880	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	9	.	.	ENST00000223208.5:c.973A>T	p.Ser325Cys	p.S325C	ENST00000223208	NM_018718.2	325	Agc/Tgc	0	1	1	UPI000006D546	0	NA	ENST00000223208		ENSG00000106477	12370		36	1.905		HGNC	p.S325C		CEP41		SNV			1				ENST00000223208	protein_coding	getma.org/?cm=var&var=hg19,7,130039880,T,A&fts=all		hmmpanther:PTHR13253,hmmpanther:PTHR13253:SF53		S/C		A	medium	1244/6513		getma.org/?cm=msa&ty=f&p=CEP41_HUMAN&rb=261&re=373&var=S325C	deleterious(0)	C9JXA0_HUMAN,C9J9X8_HUMAN,C9J6R3_HUMAN,C9IZ34_HUMAN			YES	CEP41,missense_variant,p.Ser325Cys,ENST00000223208,NM_018718.2,NM_001257158.1;CEP41,intron_variant,,ENST00000541543,NM_001257159.1;CEP41,intron_variant,,ENST00000343969,;CEP41,downstream_gene_variant,,ENST00000472739,;CEP41,downstream_gene_variant,,ENST00000492389,;CEP41,downstream_gene_variant,,ENST00000475282,;CEP41,downstream_gene_variant,,ENST00000477003,;CEP41,splice_region_variant,,ENST00000485736,;CEP41,splice_region_variant,,ENST00000484549,;CEP41,non_coding_transcript_exon_variant,,ENST00000603513,;CEP41,downstream_gene_variant,,ENST00000480206,;CEP41,downstream_gene_variant,,ENST00000471201,;							MODERATE	973/1122	S325C	CEP41_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000223208		CCDS5821.1			1	
HUNK	0	LGGM	GRCh37	21	33318458	33318458	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	9	.	.	ENST00000270112.2:c.721G>A	p.Gly241Ser	p.G241S	ENST00000270112	NM_014586.1	241	Ggc/Agc	0	1	1	UPI0000035B66	0	getma.org/pdb.php?prot=HUNK_HUMAN&from=63&to=320&var=G241S	ENST00000270112		ENSG00000142149	13326		36	1.335		HGNC	p.G241S		HUNK		SNV							ENST00000270112	protein_coding	getma.org/?cm=var&var=hg19,21,33318458,G,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343,PROSITE_profiles:PS50011		G/S		A	low	1081/7385		getma.org/?cm=msa&ty=f&p=HUNK_HUMAN&rb=63&re=320&var=G241S	deleterious(0.02)				YES	HUNK,missense_variant,p.Gly241Ser,ENST00000270112,NM_014586.1;HUNK,missense_variant,p.Gly126Ser,ENST00000430354,;							MODERATE	721/2145	G241S	HUNK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000270112		CCDS13610.1			1	
POTEG	0	LGGM	GRCh37	14	19553618	19553618	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	31	9	.	.	ENST00000409832.3:c.202T>A	p.Cys68Ser	p.C68S	ENST00000409832	NM_001005356.2	68	Tgc/Agc	0	1		UPI00015DFD28	0	NA	ENST00000547889		ENSG00000222036	33896		40	1.845		HGNC	p.C68S		POTEG		SNV							ENST00000552966	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,14,19553618,T,A&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		C/S		A	low	254/1975		getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=40&re=142&var=C68S	deleterious_low_confidence(0)					POTEG,missense_variant,p.Cys68Ser,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Cys68Ser,ENST00000552966,;POTEG,missense_variant,p.Cys68Ser,ENST00000547889,;							MODERATE	202/1461	C68S	POTEG_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000448062					1	
LGALS14	0	LGGM	GRCh37	19	40198015	40198015	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	48	9	.	.	ENST00000360675.3:c.377A>C	p.His126Pro	p.H126P	ENST00000360675	NM_203471.1	126	cAc/cCc	0	1		UPI0000073276	0	getma.org/pdb.php?prot=PPL13_HUMAN&from=5&to=137&var=H97P	ENST00000392052		ENSG00000006659	30054		57	0.22		HGNC	p.H126P		LGALS14		SNV							ENST00000360675	protein_coding	getma.org/?cm=var&var=hg19,19,40198015,A,C&fts=all		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		H/P		C	neutral	513/774		getma.org/?cm=msa&ty=f&p=PPL13_HUMAN&rb=5&re=137&var=H97P	tolerated(0.36)					LGALS14,missense_variant,p.His97Pro,ENST00000392052,NM_020129.2;LGALS14,missense_variant,p.His126Pro,ENST00000360675,NM_203471.1;LGALS14,missense_variant,p.His81Pro,ENST00000601802,;							MODERATE	290/420	H97P	PPL13_HUMAN			Transcript		benign(0.006)	.	ENSP00000375905		CCDS46073.1			1	
SEMA4A	0	LGGM	GRCh37	1	156144635	156144635	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	39	9	.	.	ENST00000368285.3:c.1338T>A	p.Ala446=	p.A446=	ENST00000368285	NM_001193300.1	446	gcT/gcA	0	1		UPI000007217A	0		ENST00000355014		ENSG00000196189	10729		48			HGNC	p.A446A		SEMA4A		SNV			1				ENST00000355014	protein_coding			PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF15,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		A		A		1442/3137				Q9HA40_HUMAN,Q5TCJ7_HUMAN,Q5TCJ5_HUMAN,Q5TCI6_HUMAN,B4DKS5_HUMAN				SEMA4A,synonymous_variant,p.=,ENST00000368285,NM_001193300.1,NM_022367.3;SEMA4A,synonymous_variant,p.=,ENST00000368282,;SEMA4A,synonymous_variant,p.=,ENST00000355014,NM_001193301.1;SEMA4A,synonymous_variant,p.=,ENST00000368286,;SEMA4A,synonymous_variant,p.=,ENST00000368284,NM_001193302.1;SEMA4A,non_coding_transcript_exon_variant,,ENST00000487358,;SEMA4A,upstream_gene_variant,,ENST00000484155,;SEMA4A,non_coding_transcript_exon_variant,,ENST00000462892,;							LOW	1338/2286		SEM4A_HUMAN			Transcript			.	ENSP00000347117		CCDS1132.1			1	
TRPS1	0	LGGM	GRCh37	8	116616197	116616197	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	13	9	.	.	ENST00000395715.3:c.1999T>A	p.Ser667Thr	p.S667T	ENST00000395715	NM_014112.2	667	Tcg/Acg	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		22	0		HGNC	p.S654T	COSM220349	TRPS1		SNV			1			1	ENST00000519674	protein_coding	getma.org/?cm=var&var=hg19,8,116616197,A,T&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6		S/T		T	neutral	2120/5480		getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=607&re=806&var=S654T	tolerated_low_confidence(0.3)					TRPS1,missense_variant,p.Ser667Thr,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Ser654Thr,ENST00000220888,;TRPS1,missense_variant,p.Ser658Thr,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Ser408Thr,ENST00000519076,;TRPS1,missense_variant,p.Ser654Thr,ENST00000519674,;TRPS1,missense_variant,p.Ser458Thr,ENST00000517323,;					1		MODERATE	1960/3846	S654T	TRPS1_HUMAN			Transcript		benign(0)	.	ENSP00000220888					1	
LTBP4	0	LGGM	GRCh37	19	41133090	41133090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	23	9	.	.	ENST00000308370.7:c.4394A>T	p.Tyr1465Phe	p.Y1465F	ENST00000308370	NM_001042544.1	1465	tAt/tTt	0	1	1	UPI000179A7A0	0		ENST00000308370		ENSG00000090006	6717		32			HGNC	p.Y1428F		LTBP4		SNV			1				ENST00000204005	protein_coding			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		Y/F		T		4394/5142			tolerated(0.22)				YES	LTBP4,missense_variant,p.Tyr1465Phe,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Tyr1428Phe,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Tyr1398Phe,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Tyr833Phe,ENST00000545697,;LTBP4,missense_variant,p.Tyr612Phe,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,upstream_gene_variant,,ENST00000598166,;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,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,;							MODERATE	4394/4872		LTBP4_HUMAN			Transcript		benign(0.057)	.	ENSP00000311905					1	
SYN1	0	LGGM	GRCh37	X	47464451	47464451	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	23	10	.	.	ENST00000295987.7:c.700C>T	p.Arg234Ter	p.R234*	ENST00000295987	NM_006950.3	234	Cga/Tga	0	1	1	UPI0000167B47	0	NA	ENST00000295987		ENSG00000008056	11494		33	0		HGNC	p.R234X	COSM1121869,COSM1599481	SYN1		SNV			1			1,1	ENST00000295987	protein_coding	getma.org/?cm=var&var=hg19,X,47464451,G,A&fts=all		Gene3D:3.30.470.20,Pfam_domain:PF02750,hmmpanther:PTHR10841,hmmpanther:PTHR10841:SF8,Superfamily_domains:SSF56059		R/*		A	NA	825/3203		NA					YES	SYN1,stop_gained,p.Arg234Ter,ENST00000295987,NM_006950.3;SYN1,stop_gained,p.Arg234Ter,ENST00000340666,NM_133499.2;					1,1		HIGH	700/2118	R234*	SYN1_HUMAN			Transcript			.	ENSP00000295987		CCDS14280.1			1	
ZFP37	0	LGGM	GRCh37	9	115805264	115805264	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	34	10	.	.	ENST00000374227.3:c.1634A>G	p.Tyr545Cys	p.Y545C	ENST00000374227		545	tAt/tGt	0	1	1	UPI000013D04B	0	getma.org/pdb.php?prot=ZFP37_HUMAN&from=531&to=556&var=Y545C	ENST00000374227		ENSG00000136866	12863		44	2.56		HGNC	p.Y546C		ZFP37		SNV							ENST00000555206	protein_coding	getma.org/?cm=var&var=hg19,9,115805264,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF139,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/C		C	medium	1662/6266		getma.org/?cm=msa&ty=f&p=ZFP37_HUMAN&rb=511&re=576&var=Y545C	deleterious(0)				YES	ZFP37,missense_variant,p.Tyr545Cys,ENST00000374227,;ZFP37,missense_variant,p.Tyr546Cys,ENST00000555206,NM_003408.1,NM_001282518.1;ZFP37,missense_variant,p.Tyr560Cys,ENST00000553380,NM_001282515.1;							MODERATE	1634/1893	Y545C	ZFP37_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000363344		CCDS6787.1			1	
SLC26A11	0	LGGM	GRCh37	17	78201696	78201696	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	11	10	.	.	ENST00000361193.3:c.673G>A	p.Val225Ile	p.V225I	ENST00000361193	NM_001166347.1	225	Gtc/Atc	0	1	1	UPI000003E7B7	0	NA	ENST00000361193		ENSG00000181045	14471		21	-0.675		HGNC	p.V225I		SLC26A11		SNV							ENST00000572725	protein_coding	getma.org/?cm=var&var=hg19,17,78201696,G,A&fts=all		Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF55		V/I		A	neutral	953/2885		getma.org/?cm=msa&ty=f&p=S2611_HUMAN&rb=137&re=437&var=V225I	tolerated(0.24)	Q96BU7_HUMAN,I3L3K8_HUMAN,I3L2J9_HUMAN,I3L1H1_HUMAN,I3L124_HUMAN			YES	SLC26A11,missense_variant,p.Val225Ile,ENST00000361193,NM_001166347.1,NM_173626.3;SLC26A11,missense_variant,p.Val225Ile,ENST00000411502,;SLC26A11,missense_variant,p.Val225Ile,ENST00000546047,NM_001166348.1,NM_001166349.1;SLC26A11,missense_variant,p.Val225Ile,ENST00000572725,;SLC26A11,missense_variant,p.Val16Ile,ENST00000571215,;SLC26A11,downstream_gene_variant,,ENST00000571176,;SLC26A11,downstream_gene_variant,,ENST00000577155,;SLC26A11,downstream_gene_variant,,ENST00000573809,;SLC26A11,downstream_gene_variant,,ENST00000576126,;SLC26A11,intron_variant,,ENST00000571564,;SLC26A11,downstream_gene_variant,,ENST00000571602,;SLC26A11,downstream_gene_variant,,ENST00000572226,;SLC26A11,non_coding_transcript_exon_variant,,ENST00000571072,;SLC26A11,intron_variant,,ENST00000571888,;							MODERATE	673/1821	V225I	S2611_HUMAN			Transcript		benign(0.015)	.	ENSP00000355384		CCDS11771.2			1	
RNF125	0	LGGM	GRCh37	18	29645880	29645880	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	22	10	.	.	ENST00000217740.3:c.520C>T	p.Arg174Cys	p.R174C	ENST00000217740	NM_017831.3	174	Cgt/Tgt	0	1	1	UPI000013C731	0	NA	ENST00000217740	pathogenic	ENSG00000101695	21150		32	0.755		HGNC	p.R174C	rs370242930	RNF125		SNV	T:0.0002					1	ENST00000217740	protein_coding	getma.org/?cm=var&var=hg19,18,29645880,C,T&fts=all		hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF2,Pfam_domain:PF05605		R/C	T:0	T	neutral	1012/6020	3.00E-05	getma.org/?cm=msa&ty=f&p=RN125_HUMAN&rb=78&re=232&var=R174C	tolerated(0.22)				YES	RNF125,missense_variant,p.Arg174Cys,ENST00000217740,NM_017831.3;AC009831.1,upstream_gene_variant,,ENST00000582018,;RNF125,non_coding_transcript_exon_variant,,ENST00000583384,;RP11-53I6.2,intron_variant,,ENST00000583184,;RNF125,3_prime_UTR_variant,,ENST00000580209,;RNF125,non_coding_transcript_exon_variant,,ENST00000580863,;RNF125,intron_variant,,ENST00000583814,;							MODERATE	520/699	R174C	RN125_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000217740	1.65E-05	CCDS11902.1			1	
FLNB	0	LGGM	GRCh37	3	58141695	58141695	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	29	10	.	.	ENST00000490882.1:c.6874G>C	p.Glu2292Gln	p.E2292Q	ENST00000490882	NM_001164317.1	2292	Gag/Cag	0	1		UPI00001AEC01	0	getma.org/pdb.php?prot=FLNB_HUMAN&from=2190&to=2277&var=E2261Q	ENST00000295956		ENSG00000136068	3755		39	2.025		HGNC	p.E2292Q		FLNB		SNV			1				ENST00000490882	protein_coding	getma.org/?cm=var&var=hg19,3,58141695,G,C&fts=all		PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296		E/Q		C	medium	6946/9463		getma.org/?cm=msa&ty=f&p=FLNB_HUMAN&rb=2190&re=2277&var=E2261Q	tolerated(0.16)					FLNB,missense_variant,p.Glu2261Gln,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Glu2250Gln,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Glu2237Gln,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Glu2220Gln,ENST00000348383,;FLNB,missense_variant,p.Glu2081Gln,ENST00000419752,;FLNB,missense_variant,p.Glu2292Gln,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Glu2068Gln,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,downstream_gene_variant,,ENST00000477629,;FLNB,upstream_gene_variant,,ENST00000475487,;FLNB,downstream_gene_variant,,ENST00000470231,;							MODERATE	6781/7809	E2261Q	FLNB_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000295956		CCDS2885.1			1	
CHAF1B	0	LGGM	GRCh37	21	37758453	37758453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	39	10	.	.	ENST00000314103.5:c.19G>A	p.Glu7Lys	p.E7K	ENST00000314103	NM_005441.2	7	Gaa/Aaa	0	1	1	UPI0000126DD1	0	NA	ENST00000314103		ENSG00000159259	1911		49	2.815		HGNC	p.E7K		CHAF1B		SNV							ENST00000314103	protein_coding	getma.org/?cm=var&var=hg19,21,37758453,G,A&fts=all		hmmpanther:PTHR15271,SMART_domains:SM00320		E/K		A	medium	170/4480		getma.org/?cm=msa&ty=f&p=CAF1B_HUMAN&rb=1&re=39&var=E7K	deleterious(0)				YES	CHAF1B,missense_variant,p.Glu7Lys,ENST00000314103,NM_005441.2;CHAF1B,non_coding_transcript_exon_variant,,ENST00000480486,;MORC3,downstream_gene_variant,,ENST00000547657,;MORC3,downstream_gene_variant,,ENST00000551367,;MORC3,downstream_gene_variant,,ENST00000546482,;MORC3,downstream_gene_variant,,ENST00000549948,;MORC3,downstream_gene_variant,,ENST00000552581,;MORC3,downstream_gene_variant,,ENST00000551788,;ATP5J2LP,downstream_gene_variant,,ENST00000444161,;							MODERATE	19/1680	E7K	CAF1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000315700		CCDS13644.1			1	
NMNAT2	0	LGGM	GRCh37	1	183255837	183255837	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	31	10	.	.	ENST00000287713.6:c.408C>A	p.Pro136=	p.P136=	ENST00000287713	NM_015039.3	136	ccC/ccA	0	1	1	UPI00000706AB	0		ENST00000287713		ENSG00000157064	16789		41			HGNC	p.P131P		NMNAT2		SNV							ENST00000294868	protein_coding			Pfam_domain:PF01467,hmmpanther:PTHR12039,hmmpanther:PTHR12039:SF2		P		T		743/5663							YES	NMNAT2,synonymous_variant,p.=,ENST00000287713,NM_015039.3;NMNAT2,synonymous_variant,p.=,ENST00000294868,NM_170706.3;NMNAT2,non_coding_transcript_exon_variant,,ENST00000473046,;							LOW	408/924		NMNA2_HUMAN			Transcript			.	ENSP00000287713		CCDS1353.1			1	
ANO9	0	LGGM	GRCh37	11	428576	428576	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	16	10	.	.	ENST00000332826.6:c.1084T>G	p.Phe362Val	p.F362V	ENST00000332826	NM_001012302.2	362	Ttc/Gtc	0	1	1	UPI00001D782B	0	NA	ENST00000332826		ENSG00000185101	20679		26	1.56		HGNC	p.F362V		ANO9		SNV							ENST00000332826	protein_coding	getma.org/?cm=var&var=hg19,11,428576,A,C&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF27,Low_complexity_(Seg):seg		F/V		C	low	1169/2542		getma.org/?cm=msa&ty=f&p=ANO9_HUMAN&rb=179&re=740&var=F362V	deleterious(0.02)				YES	ANO9,missense_variant,p.Phe362Val,ENST00000332826,NM_001012302.2;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,;ANO9,downstream_gene_variant,,ENST00000525857,;							MODERATE	1084/2349	F362V	ANO9_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000332788		CCDS31326.1			1	
RB1	0	LGGM	GRCh37	13	48919214	48919214	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	9	10	.	.	ENST00000267163.4:c.381-2A>T		p.X127_splice	ENST00000267163	NM_000321.2			0	1	1	UPI0000001C79	0		ENST00000267163		ENSG00000139687	9884		19			HGNC	p.S127_splice	COSM326324	RB1		SNV			1			1	ENST00000267163	protein_coding							T		-/4840				Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,splice_acceptor_variant,,ENST00000267163,NM_000321.2;RB1,splice_acceptor_variant,,ENST00000525036,;RB1,intron_variant,,ENST00000467505,;					1		HIGH	381/2787		RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
THAP7	0	LGGM	GRCh37	22	21354340	21354340	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	8	11	.	.	ENST00000215742.4:c.759G>A	p.Lys253=	p.K253=	ENST00000215742	NM_030573.2	253	aaG/aaA	0	1	1	UPI00001AE5D8	0		ENST00000215742		ENSG00000184436	23190		19			HGNC	p.K253K	rs376570367	THAP7		SNV							ENST00000399133	protein_coding		T:0	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23080:SF14,hmmpanther:PTHR23080		K		T		934/1213					T:0	T:0.003	YES	THAP7,synonymous_variant,p.=,ENST00000215742,NM_030573.2;THAP7,synonymous_variant,p.=,ENST00000399133,NM_001008695.1;LZTR1,downstream_gene_variant,,ENST00000215739,NM_006767.3;LZTR1,downstream_gene_variant,,ENST00000389355,;LZTR1,downstream_gene_variant,,ENST00000415817,;AC002472.1,downstream_gene_variant,,ENST00000547793,;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;LZTR1,downstream_gene_variant,,ENST00000479606,;THAP7,non_coding_transcript_exon_variant,,ENST00000498406,;THAP7,non_coding_transcript_exon_variant,,ENST00000471073,;THAP7,non_coding_transcript_exon_variant,,ENST00000476667,;LZTR1,downstream_gene_variant,,ENST00000463909,;THAP7,downstream_gene_variant,,ENST00000466670,;LZTR1,downstream_gene_variant,,ENST00000498649,;LZTR1,downstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000495142,;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,;TUBA3FP,downstream_gene_variant,,ENST00000442739,;	0.0026	T:0.0006					LOW	759/930		THAP7_HUMAN		T:0	Transcript			common_variant	ENSP00000215742	0.000181	CCDS13787.1		T:0	1	
C9orf156	0	LGGM	GRCh37	9	100675658	100675658	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	35	11	.	.	ENST00000375119.3:c.409+25A>T		*137*	ENST00000375119	NM_016481.3			0	1	1	UPI000013D057	0		ENST00000375119		ENSG00000136932	30967		46			HGNC	p.Y143F		C9orf156		SNV							ENST00000455506	protein_coding							A		-/1647				Q5T114_HUMAN			YES	C9orf156,missense_variant,p.Tyr143Phe,ENST00000455506,;C9orf156,intron_variant,,ENST00000375119,NM_016481.3;C9orf156,intron_variant,,ENST00000375117,;C9orf156,upstream_gene_variant,,ENST00000375118,;Y_RNA,upstream_gene_variant,,ENST00000364960,;C9orf156,intron_variant,,ENST00000478126,;C9orf156,intron_variant,,ENST00000471580,;							MODIFIER	-/1326		NAP1_HUMAN			Transcript			.	ENSP00000364260		CCDS6730.1			1	
PEG3	0	LGGM	GRCh37	19	57325583	57325583	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	31	11	.	.	ENST00000326441.9:c.4227T>C	p.Ala1409=	p.A1409=	ENST00000326441	NM_006210.2	1409	gcT/gcC	0	1	1	UPI000006D36D	0		ENST00000326441		ENSG00000198300	8826		42			HGNC	p.A1409A		PEG3		SNV							ENST00000599577	protein_coding			Low_complexity_(Seg):seg		A		G		4591/8723				M0QXG1_HUMAN			YES	PEG3,synonymous_variant,p.=,ENST00000326441,NM_006210.2;PEG3,synonymous_variant,p.=,ENST00000423103,NM_001146184.1;PEG3,synonymous_variant,p.=,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,synonymous_variant,p.=,ENST00000599534,NM_001146186.1;PEG3,synonymous_variant,p.=,ENST00000599577,;PEG3,synonymous_variant,p.=,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,;							LOW	4227/4767		PEG3_HUMAN			Transcript			.	ENSP00000326581		CCDS12948.1			1	
SEC31B	0	LGGM	GRCh37	10	102257471	102257471	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	22	11	.	.	ENST00000370345.3:c.1943C>G	p.Ala648Gly	p.A648G	ENST00000370345	NM_015490.3	648	gCt/gGt	0	1	1	UPI0000070A8E	0	getma.org/pdb.php?prot=SC31B_HUMAN&from=341&to=806&var=A648G	ENST00000370345		ENSG00000075826	23197		33	3.225		HGNC	p.A648G		SEC31B		SNV							ENST00000370345	protein_coding	getma.org/?cm=var&var=hg19,10,102257471,G,C&fts=all		hmmpanther:PTHR13923,hmmpanther:PTHR13923:SF22		A/G		C	medium	2041/4612		getma.org/?cm=msa&ty=f&p=SC31B_HUMAN&rb=341&re=806&var=A648G	deleterious(0)				YES	SEC31B,missense_variant,p.Ala648Gly,ENST00000370345,NM_015490.3;SEC31B,downstream_gene_variant,,ENST00000451524,;SEC31B,non_coding_transcript_exon_variant,,ENST00000469824,;SEC31B,downstream_gene_variant,,ENST00000494350,;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000484848,;SEC31B,non_coding_transcript_exon_variant,,ENST00000498298,;SEC31B,downstream_gene_variant,,ENST00000490567,;							MODERATE	1943/3540	A648G	SC31B_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000359370		CCDS7495.1			1	
ADAT1	0	LGGM	GRCh37	16	75651110	75651110	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	17	12	.	.	ENST00000307921.3:c.354A>T	p.Pro118=	p.P118=	ENST00000307921	NM_012091.3	118	ccA/ccT	0	1	1	UPI000006FD70	0		ENST00000307921		ENSG00000065457	228		29			HGNC	p.P118P		ADAT1		SNV							ENST00000307921	protein_coding			Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,SMART_domains:SM00552		P		A		500/1869				H3BU72_HUMAN,H3BP18_HUMAN			YES	ADAT1,synonymous_variant,p.=,ENST00000307921,NM_012091.3;ADAT1,synonymous_variant,p.=,ENST00000567281,;ADAT1,downstream_gene_variant,,ENST00000564657,;ADAT1,downstream_gene_variant,,ENST00000562374,;ADAT1,downstream_gene_variant,,ENST00000565109,;ADAT1,3_prime_UTR_variant,,ENST00000566445,;ADAT1,3_prime_UTR_variant,,ENST00000568001,;							LOW	354/1509		ADAT1_HUMAN			Transcript			.	ENSP00000310015		CCDS10922.1			1	
MICAL1	0	LGGM	GRCh37	6	109770984	109770984	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	20	12	.	.	ENST00000358807.3:c.1310A>T	p.Glu437Val	p.E437V	ENST00000358807	NM_022765.3	437	gAg/gTg	0	1	1	UPI00000745D0	0	getma.org/pdb.php?prot=MICA1_HUMAN&from=342&to=510&var=E437V	ENST00000358807		ENSG00000135596	20619		32	2.74		HGNC	p.E456V		MICAL1		SNV							ENST00000368952	protein_coding	getma.org/?cm=var&var=hg19,6,109770984,T,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF259,Superfamily_domains:SSF51905,Superfamily_domains:SSF47576		E/V		A	medium	1622/3645		getma.org/?cm=msa&ty=f&p=MICA1_HUMAN&rb=342&re=510&var=E437V	deleterious(0)	Q5TED7_HUMAN,H0UI45_HUMAN			YES	MICAL1,missense_variant,p.Glu456Val,ENST00000368952,NM_001286613.1;MICAL1,missense_variant,p.Glu437Val,ENST00000358807,NM_022765.3;MICAL1,missense_variant,p.Glu351Val,ENST00000358577,NM_001159291.1;MICAL1,missense_variant,p.Glu2Val,ENST00000433205,;MICAL1,downstream_gene_variant,,ENST00000431946,;MICAL1,downstream_gene_variant,,ENST00000483856,;MICAL1,splice_region_variant,,ENST00000465904,;MICAL1,splice_region_variant,,ENST00000456101,;							MODERATE	1310/3204	E437V	MICA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351664		CCDS5076.1			1	
SLC25A36	0	LGGM	GRCh37	3	140695162	140695162	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	24	12	.	.	ENST00000324194.6:c.803T>C	p.Leu268Pro	p.L268P	ENST00000324194		268	cTa/cCa	0	1	1	UPI000006D558	0	getma.org/pdb.php?prot=S2536_HUMAN&from=222&to=311&var=L268P	ENST00000324194		ENSG00000114120	25554		36	3.92		HGNC	p.L268P		SLC25A36		SNV							ENST00000324194	protein_coding	getma.org/?cm=var&var=hg19,3,140695162,T,C&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF180,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588		L/P		C	high	971/1301		getma.org/?cm=msa&ty=f&p=S2536_HUMAN&rb=222&re=311&var=L268P	deleterious(0)				YES	SLC25A36,missense_variant,p.Leu267Pro,ENST00000446041,NM_018155.2,NM_001104647.1;SLC25A36,missense_variant,p.Leu268Pro,ENST00000324194,;SLC25A36,missense_variant,p.Leu242Pro,ENST00000453248,;RP11-231L11.3,downstream_gene_variant,,ENST00000513802,;SLC25A36,3_prime_UTR_variant,,ENST00000502594,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000511757,;SLC25A36,non_coding_transcript_exon_variant,,ENST00000514629,;SLC25A36,downstream_gene_variant,,ENST00000512023,;SLC25A36,downstream_gene_variant,,ENST00000512506,;SLC25A36,downstream_gene_variant,,ENST00000502866,;							MODERATE	803/936	L268P	S2536_HUMAN			Transcript		benign(0.026)	.	ENSP00000320688		CCDS46927.1			1	
SCML2	0	LGGM	GRCh37	X	18342179	18342179	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	14	12	.	.	ENST00000251900.4:c.197G>A	p.Gly66Asp	p.G66D	ENST00000251900	NM_006089.2	66	gGt/gAt	0	1	1	UPI0000071E54	0	getma.org/pdb.php?prot=SCML2_HUMAN&from=1&to=66&var=G66D	ENST00000251900		ENSG00000102098	10581		26	2.465		HGNC	p.G66D	rs150934178	SCML2		SNV	G:0.0003						ENST00000251900	protein_coding	getma.org/?cm=var&var=hg19,X,18342179,C,T&fts=all	G:0	Gene3D:2.30.30.160,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF76,SMART_domains:SM00561,Superfamily_domains:SSF63748		G/D	G:0	T	medium	357/4200		getma.org/?cm=msa&ty=f&p=SCML2_HUMAN&rb=1&re=66&var=G66D	deleterious(0.02)		G:0	G:0	YES	SCML2,missense_variant,p.Gly66Asp,ENST00000251900,NM_006089.2;	0.000162	G:0.0003					MODERATE	197/2103	G66D	SCML2_HUMAN		G:0.001	Transcript		probably_damaging(1)	.	ENSP00000251900	8.24E-06	CCDS14185.1		G:0	1	
PCDH11X	0	LGGM	GRCh37	X	91090570	91090570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	41	12	.	.	ENST00000373094.1:c.67G>A	p.Ala23Thr	p.A23T	ENST00000373094	NM_032968.3	23	Gcc/Acc	0	1	1	UPI0000070BD8	0	NA	ENST00000373094		ENSG00000102290	8656		53	0.965		HGNC	p.A23T		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91090570,G,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15		A/T		A	low	912/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=1&re=53&var=A23T	deleterious(0)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Ala23Thr,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Ala23Thr,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Ala23Thr,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Ala23Thr,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Ala23Thr,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Ala23Thr,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Ala23Thr,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Ala23Thr,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Ala23Thr,ENST00000298274,;							MODERATE	67/4044	A23T	PC11X_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000362186		CCDS14461.1			1	
OR9Q2	0	LGGM	GRCh37	11	57958643	57958643	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	21	12	.	.	ENST00000311591.3:c.681G>A	p.Gln227=	p.Q227=	ENST00000311591	NM_001005283.2	227	caG/caA	0	1	1	UPI0000061ECB	0		ENST00000311591		ENSG00000186513	15328		33			HGNC	p.Q227Q		OR9Q2		SNV							ENST00000311591	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF155,Superfamily_domains:SSF81321		Q		A		738/1085							YES	OR9Q2,synonymous_variant,p.=,ENST00000311591,NM_001005283.2;							LOW	681/945		OR9Q2_HUMAN			Transcript			.	ENSP00000308714		CCDS31544.1			1	
DLGAP1	0	LGGM	GRCh37	18	3582159	3582159	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	36	12	.	.	ENST00000315677.3:c.1679A>T	p.Gln560Leu	p.Q560L	ENST00000315677	NM_004746.3	560	cAg/cTg	0	1	1	UPI0000129490	0	NA	ENST00000315677		ENSG00000170579	2905		48	2.885		HGNC	p.Q268L		DLGAP1		SNV							ENST00000539435	protein_coding	getma.org/?cm=var&var=hg19,18,3582159,T,A&fts=all		hmmpanther:PTHR12353:SF7,hmmpanther:PTHR12353		Q/L		A	medium	2275/6683		getma.org/?cm=msa&ty=f&p=DLGP1_HUMAN&rb=401&re=600&var=Q560L	deleterious(0)				YES	DLGAP1,missense_variant,p.Gln560Leu,ENST00000315677,NM_004746.3;DLGAP1,missense_variant,p.Gln276Leu,ENST00000400150,NM_001242763.1;DLGAP1,missense_variant,p.Gln258Leu,ENST00000400147,NM_001003809.2;DLGAP1,missense_variant,p.Gln266Leu,ENST00000400155,NM_001242764.1;DLGAP1,missense_variant,p.Gln250Leu,ENST00000400149,;DLGAP1,missense_variant,p.Gln560Leu,ENST00000581527,NM_001242761.1;DLGAP1,missense_variant,p.Gln560Leu,ENST00000584874,;DLGAP1,missense_variant,p.Gln560Leu,ENST00000515196,;DLGAP1,missense_variant,p.Gln268Leu,ENST00000539435,NM_001242766.1;DLGAP1,missense_variant,p.Gln244Leu,ENST00000534970,NM_001242762.1;DLGAP1,missense_variant,p.Gln266Leu,ENST00000581699,;DLGAP1,missense_variant,p.Gln258Leu,ENST00000400145,NM_001242765.1;RP11-710M11.1,downstream_gene_variant,,ENST00000577490,;							MODERATE	1679/2934	Q560L	DLGP1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000316377		CCDS11836.1			1	
C1D	0	LGGM	GRCh37	2	68270171	68270171	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	17	12	.	.	ENST00000355848.3:c.276A>T	p.Val92=	p.V92=	ENST00000355848		92	gtA/gtT	0	1	1	UPI0000031D5C	0		ENST00000355848		ENSG00000197223	29911		29			HGNC	p.V92V		C1D		SNV							ENST00000409302	protein_coding			hmmpanther:PTHR15341,Pfam_domain:PF04000		V		A		324/2233							YES	C1D,synonymous_variant,p.=,ENST00000355848,;C1D,synonymous_variant,p.=,ENST00000407324,;C1D,synonymous_variant,p.=,ENST00000409302,NM_001190263.1,NM_001190265.1;C1D,synonymous_variant,p.=,ENST00000410067,NM_006333.3,NM_173177.2;C1D,downstream_gene_variant,,ENST00000470189,;C1D,non_coding_transcript_exon_variant,,ENST00000485709,;C1D,non_coding_transcript_exon_variant,,ENST00000479484,;							LOW	276/426		C1D_HUMAN			Transcript			.	ENSP00000348107		CCDS1883.1			1	
PCOLCE2	0	LGGM	GRCh37	3	142537267	142537267	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	28	13	.	.	ENST00000295992.3:c.1158G>T	p.Gly386=	p.G386=	ENST00000295992	NM_013363.3	386	ggG/ggT	0	1	1	UPI0000073F93	0		ENST00000295992		ENSG00000163710	8739		41			HGNC	p.G111G	rs763412812	PCOLCE2	6.06E-05	SNV							ENST00000470310	protein_coding			PROSITE_profiles:PS50189,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242		G		A		1465/2021				H7C5D5_HUMAN			YES	PCOLCE2,synonymous_variant,p.=,ENST00000295992,NM_013363.3;PCOLCE2,3_prime_UTR_variant,,ENST00000485766,;PCOLCE2,synonymous_variant,p.=,ENST00000470310,;PCOLCE2,non_coding_transcript_exon_variant,,ENST00000470795,;PCOLCE2,downstream_gene_variant,,ENST00000480473,;							LOW	1158/1248		PCOC2_HUMAN			Transcript			.	ENSP00000295992	8.24E-06	CCDS3127.1			1	
PRL	0	LGGM	GRCh37	6	22290448	22290448	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	35	13	.	.	ENST00000306482.1:c.447G>A	p.Glu149=	p.E149=	ENST00000306482	NM_000948.5	149	gaG/gaA	0	1	1	UPI0000001C13	0		ENST00000306482		ENSG00000172179	9445		48			HGNC	p.E149E		PRL		SNV							ENST00000306482	protein_coding			hmmpanther:PTHR11417:SF5,hmmpanther:PTHR11417,Pfam_domain:PF00103,Gene3D:1.20.1250.10,Superfamily_domains:SSF47266		E		T		966/1354				Q5THQ0_HUMAN,Q5I0G2_HUMAN			YES	PRL,synonymous_variant,p.=,ENST00000306482,NM_000948.5,NM_001163558.2;RP3-404K8.2,intron_variant,,ENST00000561912,;							LOW	447/684		PRL_HUMAN			Transcript			.	ENSP00000302150		CCDS4548.1			1	
JAK2	0	LGGM	GRCh37	9	5072551	5072551	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	31	13	.	.	ENST00000381652.3:c.1701A>T	p.Val567=	p.V567=	ENST00000381652	NM_004972.3	567	gtA/gtT	0	1	1	UPI000012DA9E	0		ENST00000381652		ENSG00000096968	6192		44			HGNC	p.V418V		JAK2		SNV			1				ENST00000544510	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,Pfam_domain:PF07714,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000636,SMART_domains:SM00219,Superfamily_domains:SSF56112		V		T		2195/5285				Q8IXP2_HUMAN,F5H5U8_HUMAN			YES	JAK2,synonymous_variant,p.=,ENST00000381652,NM_004972.3;JAK2,synonymous_variant,p.=,ENST00000539801,;JAK2,synonymous_variant,p.=,ENST00000544510,;AL161450.1,downstream_gene_variant,,ENST00000601793,;							LOW	1701/3399		JAK2_HUMAN			Transcript			.	ENSP00000371067		CCDS6457.1			1	
EPG5	0	LGGM	GRCh37	18	43490585	43490585	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	33	13	.	.	ENST00000282041.5:c.4106C>A	p.Ala1369Asp	p.A1369D	ENST00000282041	NM_020964.2	1369	gCc/gAc	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		46	1.905		HGNC	p.A244D		EPG5		SNV			1				ENST00000587884	protein_coding	getma.org/?cm=var&var=hg19,18,43490585,G,T&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		A/D		T	medium	4141/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=A1369D	deleterious(0)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Ala1369Asp,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,missense_variant,p.Ala244Asp,ENST00000587884,;EPG5,missense_variant,p.Ala244Asp,ENST00000592272,;EPG5,missense_variant,p.Ala244Asp,ENST00000590884,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;							MODERATE	4106/7740	A1369D	EPG5_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000282041		CCDS11926.2			1	
AJUBA	0	LGGM	GRCh37	14	23451472	23451472	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	16	13	.	.	ENST00000262713.2:c.4G>C	p.Glu2Gln	p.E2Q	ENST00000262713	NM_032876.4	2	Gag/Cag	0	1	1	UPI0000040AEC	0	NA	ENST00000262713		ENSG00000129474	20250		29	0.345		HGNC	p.E2Q		AJUBA		SNV							ENST00000262713	protein_coding	getma.org/?cm=var&var=hg19,14,23451472,C,G&fts=all				E/Q		G	neutral	380/4262		getma.org/?cm=msa&ty=f&p=AJUBA_HUMAN&rb=1&re=200&var=E2Q	deleterious_low_confidence(0)	G3V5F5_HUMAN,G3V481_HUMAN			YES	AJUBA,missense_variant,p.Glu2Gln,ENST00000262713,NM_032876.4;AJUBA,missense_variant,p.Glu2Gln,ENST00000361265,;C14orf93,downstream_gene_variant,,ENST00000299088,NM_001130708.1,NM_021944.2;C14orf93,downstream_gene_variant,,ENST00000341470,NM_001282970.1;C14orf93,downstream_gene_variant,,ENST00000397382,;C14orf93,downstream_gene_variant,,ENST00000397379,NM_001130706.1;C14orf93,downstream_gene_variant,,ENST00000397377,NM_001282969.1,NM_001282968.1;C14orf93,downstream_gene_variant,,ENST00000406429,;RP11-298I3.5,upstream_gene_variant,,ENST00000555074,;AJUBA,upstream_gene_variant,,ENST00000553736,;AJUBA,upstream_gene_variant,,ENST00000556731,;RP11-298I3.4,upstream_gene_variant,,ENST00000557615,;RP11-298I3.4,upstream_gene_variant,,ENST00000556503,;RP11-298I3.4,upstream_gene_variant,,ENST00000555294,;							MODERATE	4/1617	E2Q	AJUBA_HUMAN			Transcript		possibly_damaging(0.727)	.	ENSP00000262713		CCDS9581.1			1	
CNOT2	0	LGGM	GRCh37	12	70704757	70704757	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	46	13	.	.	ENST00000229195.3:c.131A>T	p.Tyr44Phe	p.Y44F	ENST00000229195	NM_014515.5	44	tAc/tTc	0	1	1	UPI0000052E12	0	NA	ENST00000229195		ENSG00000111596	7878		59	0.625		HGNC	p.Y44F		CNOT2		SNV							ENST00000552231	protein_coding	getma.org/?cm=var&var=hg19,12,70704757,A,T&fts=all		hmmpanther:PTHR23326		Y/F		T	neutral	710/3280		getma.org/?cm=msa&ty=f&p=CNOT2_HUMAN&rb=1&re=200&var=Y44F	tolerated_low_confidence(0.16)	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN			YES	CNOT2,missense_variant,p.Tyr44Phe,ENST00000229195,NM_014515.5;CNOT2,missense_variant,p.Tyr44Phe,ENST00000418359,NM_001199302.1;CNOT2,missense_variant,p.Tyr35Phe,ENST00000548159,;CNOT2,missense_variant,p.Tyr44Phe,ENST00000551043,NM_001199303.1;CNOT2,missense_variant,p.Tyr44Phe,ENST00000552231,;CNOT2,missense_variant,p.Tyr44Phe,ENST00000549750,;CNOT2,missense_variant,p.Tyr44Phe,ENST00000552915,;CNOT2,missense_variant,p.Tyr44Phe,ENST00000550160,;CNOT2,missense_variant,p.Tyr24Phe,ENST00000550641,;CNOT2,missense_variant,p.Tyr35Phe,ENST00000552483,;CNOT2,missense_variant,p.Tyr44Phe,ENST00000550194,;CNOT2,missense_variant,p.Tyr24Phe,ENST00000551132,;CNOT2,missense_variant,p.Tyr35Phe,ENST00000547867,;CNOT2,5_prime_UTR_variant,,ENST00000551873,;CNOT2,downstream_gene_variant,,ENST00000547780,;CNOT2,non_coding_transcript_exon_variant,,ENST00000549443,;CNOT2,downstream_gene_variant,,ENST00000552422,;CNOT2,missense_variant,p.Tyr44Phe,ENST00000548599,;CNOT2,3_prime_UTR_variant,,ENST00000552319,;CNOT2,3_prime_UTR_variant,,ENST00000553020,;CNOT2,3_prime_UTR_variant,,ENST00000551661,;CNOT2,non_coding_transcript_exon_variant,,ENST00000552151,;CNOT2,non_coding_transcript_exon_variant,,ENST00000548021,;CNOT2,non_coding_transcript_exon_variant,,ENST00000547321,;							MODERATE	131/1623	Y44F	CNOT2_HUMAN			Transcript		benign(0.011)	.	ENSP00000229195		CCDS31857.1			1	
EIF5A	0	LGGM	GRCh37	17	7214699	7214699	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	18	13	.	.	ENST00000336452.7:c.391C>G	p.Leu131Val	p.L131V	ENST00000336452	NM_001143760.1	131	Ctg/Gtg	0	1		UPI0000006BEE	0	getma.org/pdb.php?prot=IF5A1_HUMAN&from=83&to=150&var=L101V	ENST00000336458		ENSG00000132507	3300		31	3.52		HGNC	p.L101V		EIF5A		SNV							ENST00000573714	protein_coding	getma.org/?cm=var&var=hg19,17,7214699,C,G&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF01287,PIRSF_domain:PIRSF003025,hmmpanther:PTHR11673,hmmpanther:PTHR11673:SF7,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00037		L/V		G	high	702/1511		getma.org/?cm=msa&ty=f&p=IF5A1_HUMAN&rb=83&re=150&var=L101V	deleterious(0.01)	I3L397_HUMAN				EIF5A,missense_variant,p.Leu101Val,ENST00000336458,NM_001970.4;EIF5A,missense_variant,p.Leu101Val,ENST00000576930,;EIF5A,missense_variant,p.Leu101Val,ENST00000571955,;EIF5A,missense_variant,p.Leu101Val,ENST00000416016,NM_001143762.1;EIF5A,missense_variant,p.Leu101Val,ENST00000419711,NM_001143761.1;EIF5A,missense_variant,p.Leu131Val,ENST00000336452,NM_001143760.1;EIF5A,missense_variant,p.Leu101Val,ENST00000573542,;EIF5A,missense_variant,p.Leu101Val,ENST00000572815,;EIF5A,missense_variant,p.Leu101Val,ENST00000573714,;GPS2,3_prime_UTR_variant,,ENST00000391950,;GPS2,3_prime_UTR_variant,,ENST00000570780,;NEURL4,downstream_gene_variant,,ENST00000399464,NM_032442.2;NEURL4,downstream_gene_variant,,ENST00000315614,NM_001005408.1;NEURL4,downstream_gene_variant,,ENST00000570460,;GPS2,downstream_gene_variant,,ENST00000380728,;GPS2,downstream_gene_variant,,ENST00000389167,NM_004489.4;GPS2,downstream_gene_variant,,ENST00000577040,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000574458,;NEURL4,downstream_gene_variant,,ENST00000573186,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000571098,;EIF5A,downstream_gene_variant,,ENST00000355068,;GPS2,downstream_gene_variant,,ENST00000572707,;GPS2,downstream_gene_variant,,ENST00000573059,;GPS2,downstream_gene_variant,,ENST00000573807,;NEURL4,downstream_gene_variant,,ENST00000572680,;EIF5A,downstream_gene_variant,,ENST00000575001,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000574201,;							MODERATE	301/465	L101V	IF5A1_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000336776		CCDS11099.1			1	
LTF	0	LGGM	GRCh37	3	46496906	46496906	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	21	14	.	.	ENST00000231751.4:c.526T>A	p.Cys176Ser	p.C176S	ENST00000231751	NM_002343.3	176	Tgt/Agt	0	1	1	UPI000016ABE3	0	getma.org/pdb.php?prot=TRFL_HUMAN&from=25&to=352&var=C176S	ENST00000231751		ENSG00000012223	6720		35	3.96		HGNC	p.C163S		LTF		SNV			1				ENST00000443496	protein_coding	getma.org/?cm=var&var=hg19,3,46496906,A,T&fts=all		PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF21,hmmpanther:PTHR11485,Gene3D:3.40.190.10,Pfam_domain:PF00405,SMART_domains:SM00094,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500683,Superfamily_domains:SSF53850,Prints_domain:PR00422		C/S		T	high	822/2979		getma.org/?cm=msa&ty=f&p=TRFL_HUMAN&rb=25&re=352&var=C176S	deleterious(0.01)	C9J0S5_HUMAN,A8K9U8_HUMAN			YES	LTF,missense_variant,p.Cys176Ser,ENST00000231751,NM_002343.3;LTF,missense_variant,p.Cys163Ser,ENST00000443496,;LTF,missense_variant,p.Cys132Ser,ENST00000426532,NM_001199149.1;LTF,missense_variant,p.Cys176Ser,ENST00000417439,;LTF,downstream_gene_variant,,ENST00000415180,;LTF,downstream_gene_variant,,ENST00000431944,;LTF,intron_variant,,ENST00000478874,;LTF,downstream_gene_variant,,ENST00000498301,;LTF,non_coding_transcript_exon_variant,,ENST00000462667,;							MODERATE	526/2133	C176S	TRFL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000231751		CCDS33747.1			1	
PTPRR	0	LGGM	GRCh37	12	71077968	71077968	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	34	14	.	.	ENST00000283228.2:c.1436T>C	p.Met479Thr	p.M479T	ENST00000283228	NM_002849.3	479	aTg/aCg	0	1	1	UPI000013DD2F	0	getma.org/pdb.php?prot=PTPRR_HUMAN&from=415&to=646&var=M479T	ENST00000283228		ENSG00000153233	9680		48	3.7		HGNC	p.M234T		PTPRR		SNV							ENST00000440835	protein_coding	getma.org/?cm=var&var=hg19,12,71077968,A,G&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR00700		M/T		G	high	1889/3529		getma.org/?cm=msa&ty=f&p=PTPRR_HUMAN&rb=415&re=646&var=M479T	deleterious(0)	Q68CP6_HUMAN,F8VVE9_HUMAN			YES	PTPRR,missense_variant,p.Met479Thr,ENST00000283228,NM_002849.3;PTPRR,missense_variant,p.Met234Thr,ENST00000440835,NM_130846.2;PTPRR,missense_variant,p.Met273Thr,ENST00000378778,NM_001207016.1;PTPRR,missense_variant,p.Met367Thr,ENST00000342084,NM_001207015.1;PTPRR,missense_variant,p.Met234Thr,ENST00000549308,;PTPRR,downstream_gene_variant,,ENST00000550661,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,non_coding_transcript_exon_variant,,ENST00000549107,;PTPRR,missense_variant,p.Met78Thr,ENST00000551219,;							MODERATE	1436/1974	M479T	PTPRR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000283228		CCDS8998.1			1	
RBM46	0	LGGM	GRCh37	4	155719072	155719072	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	14	.	.	ENST00000281722.3:c.261A>G	p.Ile87Met	p.I87M	ENST00000281722	NM_144979.4	87	atA/atG	0	1	1	UPI000007173F	0	getma.org/pdb.php?prot=RBM46_HUMAN&from=63&to=130&var=I87M	ENST00000281722		ENSG00000151962	28401		41	3.305		HGNC	p.I87M		RBM46		SNV							ENST00000512640	protein_coding	getma.org/?cm=var&var=hg19,4,155719072,A,G&fts=all		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		I/M		G	medium	496/2583		getma.org/?cm=msa&ty=f&p=RBM46_HUMAN&rb=63&re=130&var=I87M	deleterious(0)	D6RF41_HUMAN			YES	RBM46,missense_variant,p.Ile87Met,ENST00000510397,NM_001277173.1;RBM46,missense_variant,p.Ile87Met,ENST00000281722,NM_144979.4;RBM46,missense_variant,p.Ile87Met,ENST00000514866,NM_001277171.1;RBM46,missense_variant,p.Ile87Met,ENST00000512640,;							MODERATE	261/1602	I87M	RBM46_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000281722		CCDS3790.1			1	
SP100	0	LGGM	GRCh37	2	231368993	231368993	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	38	14	.	.	ENST00000340126.4:c.1858C>T	p.Arg620Ter	p.R620*	ENST00000340126	NM_001080391.1	620	Cga/Tga	0	1		UPI000004F0A8	0	NA	ENST00000264052		ENSG00000067066	11206		52	0		HGNC	p.R620X	COSM3730600,COSM3730599	SP100		SNV						1,1	ENST00000264052	protein_coding	getma.org/?cm=var&var=hg19,2,231368993,C,T&fts=all		Gene3D:3.10.390.10,Pfam_domain:PF01342,PROSITE_profiles:PS50864,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF45,SMART_domains:SM00258,Superfamily_domains:SSF63763		R/*		T	NA	2213/3882		NA		Q53TD0_HUMAN,Q4ZG64_HUMAN				SP100,stop_gained,p.Arg620Ter,ENST00000264052,NM_003113.3;SP100,stop_gained,p.Arg620Ter,ENST00000340126,NM_001080391.1;SP100,stop_gained,p.Arg620Ter,ENST00000409112,NM_001206701.1;SP100,stop_gained,p.Arg7Ter,ENST00000431952,;RN7SL834P,upstream_gene_variant,,ENST00000461450,;SP100,non_coding_transcript_exon_variant,,ENST00000459786,;SP100,upstream_gene_variant,,ENST00000494901,;					1,1		HIGH	1858/2640	R620*	SP100_HUMAN			Transcript			.	ENSP00000264052		CCDS2477.1			1	
PCDHA8	0	LGGM	GRCh37	5	140222687	140222687	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	35	14	.	.	ENST00000531613.1:c.1781T>G	p.Val594Gly	p.V594G	ENST00000531613	NM_018911.2	594	gTg/gGg	0	1	1	UPI00001273D0	0	getma.org/pdb.php?prot=PCDA8_HUMAN&from=581&to=670&var=V594G	ENST00000531613		ENSG00000204962	8674		49	4.505		HGNC	p.V594G		PCDHA8		SNV							ENST00000531613	protein_coding	getma.org/?cm=var&var=hg19,5,140222687,T,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/G		G	high	1781/5260		getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=581&re=670&var=V594G	deleterious_low_confidence(0)				YES	PCDHA8,missense_variant,p.Val594Gly,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Val594Gly,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;							MODERATE	1781/2853	V594G	PCDA8_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000434655		CCDS54919.1			1	
ADGB	0	LGGM	GRCh37	6	147103277	147103277	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	20	14	.	.	ENST00000397944.3:c.3984T>A	p.Ser1328=	p.S1328=	ENST00000397944	NM_024694.3	1328	tcT/tcA	0	1	1	UPI000020E382	0		ENST00000397944		ENSG00000118492	21212		34			HGNC	p.S51S		ADGB		SNV							ENST00000326916	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		S		A		4060/5325							YES	ADGB,synonymous_variant,p.=,ENST00000397944,NM_024694.3;ADGB,synonymous_variant,p.=,ENST00000367493,;ADGB,synonymous_variant,p.=,ENST00000367490,;ADGB,synonymous_variant,p.=,ENST00000367488,;ADGB,synonymous_variant,p.=,ENST00000326916,;ADGB,synonymous_variant,p.=,ENST00000470716,;ADGB,non_coding_transcript_exon_variant,,ENST00000523560,;ADGB,synonymous_variant,p.=,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;							LOW	3984/5004		ADGB_HUMAN			Transcript			.	ENSP00000381036					1	
C20orf26	0	LGGM	GRCh37	20	20150101	20150101	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	28	14	.	.	ENST00000245957.5:c.1382T>A	p.Leu461His	p.L461H	ENST00000245957	NM_015585.3	461	cTc/cAc	0	1	1	UPI0000206AE4	0	NA	ENST00000245957		ENSG00000089101	15872		42	1.405		HGNC	p.L461H		C20orf26		SNV							ENST00000245957	protein_coding	getma.org/?cm=var&var=hg19,20,20150101,T,A&fts=all		hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178		L/H		A	low	1458/4082		getma.org/?cm=msa&ty=f&p=CT026_HUMAN&rb=1&re=1234&var=L461H	deleterious(0)	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN			YES	C20orf26,missense_variant,p.Leu461His,ENST00000245957,NM_015585.3;C20orf26,missense_variant,p.Leu461His,ENST00000377306,;C20orf26,missense_variant,p.Leu461His,ENST00000451767,NM_001167816.1;C20orf26,missense_variant,p.Leu27His,ENST00000431753,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,downstream_gene_variant,,ENST00000340348,;C20orf26,downstream_gene_variant,,ENST00000442372,;							MODERATE	1382/3714	L461H	CT026_HUMAN			Transcript		possibly_damaging(0.628)	.	ENSP00000245957		CCDS33447.1			1	
ANAPC5	0	LGGM	GRCh37	12	121747641	121747641	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	38	15	.	.	ENST00000261819.3:c.1919C>A	p.Ala640Asp	p.A640D	ENST00000261819	NM_016237.4	640	gCc/gAc	0	1	1	UPI000006DF80	0	NA	ENST00000261819		ENSG00000089053	15713		53	1.65		HGNC	p.A306D		ANAPC5		SNV							ENST00000535482	protein_coding	getma.org/?cm=var&var=hg19,12,121747641,G,T&fts=all		hmmpanther:PTHR12830,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		A/D		T	low	2041/2513		getma.org/?cm=msa&ty=f&p=APC5_HUMAN&rb=496&re=695&var=A640D	deleterious(0)	Q49A41_HUMAN,F5GZ05_HUMAN,F5GY68_HUMAN,B4DFK4_HUMAN			YES	ANAPC5,missense_variant,p.Ala640Asp,ENST00000261819,NM_016237.4;ANAPC5,missense_variant,p.Ala627Asp,ENST00000541887,;ANAPC5,missense_variant,p.Ala528Asp,ENST00000441917,NM_001137559.1;ANAPC5,missense_variant,p.Ala306Asp,ENST00000535482,;ANAPC5,missense_variant,p.Ala528Asp,ENST00000344395,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,3_prime_UTR_variant,,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000534976,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000422342,;							MODERATE	1919/2268	A640D	APC5_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000261819		CCDS9220.1			1	
MYO1H	0	LGGM	GRCh37	12	109843784	109843784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	38	15	.	.	ENST00000310903.5:c.859G>A	p.Asp287Asn	p.D287N	ENST00000310903		287	Gac/Aac	0	1	1	UPI0001AFF951	0	getma.org/pdb.php?prot=MYO1H_HUMAN&from=13&to=688&var=D287N	ENST00000310903		ENSG00000174527	13879		53	0.755		HGNC	p.D287N		MYO1H		SNV							ENST00000310903	protein_coding	getma.org/?cm=var&var=hg19,12,109843784,G,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,SMART_domains:SM00242,Superfamily_domains:SSF52540		D/N		A	neutral	965/4364		getma.org/?cm=msa&ty=f&p=MYO1H_HUMAN&rb=13&re=688&var=D287N	tolerated(0.36)	S4R387_HUMAN,F5H3C6_HUMAN			YES	MYO1H,missense_variant,p.Asp287Asn,ENST00000310903,;MYO1H,missense_variant,p.Asp287Asn,ENST00000431443,NM_001101421.3;MYO1H,non_coding_transcript_exon_variant,,ENST00000542883,;							MODERATE	859/3069	D287N				Transcript		benign(0.013)	.	ENSP00000439182		CCDS53826.1			1	
POTEM	0	LGGM	GRCh37	14	20020019	20020019	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	117	15	.	.	ENST00000551509.1:c.202T>A	p.Cys68Ser	p.C68S	ENST00000551509	NM_001145442.1	68	Tgc/Agc	0	1		UPI00006C1406	0	NA	ENST00000547848		ENSG00000187537	37096		132	1.65		HGNC	p.C68S		POTEM		SNV							ENST00000547848	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,14,20020019,A,T&fts=all		hmmpanther:PTHR24118:SF43,hmmpanther:PTHR24118		C/S		T	low	254/1975		getma.org/?cm=msa&ty=f&p=POTEM_HUMAN&rb=40&re=142&var=C68S	deleterious_low_confidence(0)	F8W858_HUMAN				POTEM,missense_variant,p.Cys68Ser,ENST00000551509,NM_001145442.1;POTEM,missense_variant,p.Cys68Ser,ENST00000547722,;POTEM,missense_variant,p.Cys68Ser,ENST00000547848,;							MODERATE	202/1461	C68S				Transcript		probably_damaging(0.99)	.	ENSP00000450853					1	
SLC25A48	0	LGGM	GRCh37	5	135215661	135215661	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	26	15	.	.	ENST00000412661.2:c.422-8060T>A		*141*	ENST00000412661	NM_145282.4			0	1	1	UPI000006FF97	0		ENST00000412661		ENSG00000145832	30451		41			HGNC	p.F219Y		SLC25A48		SNV							ENST00000433282	protein_coding							A		-/1148							YES	SLC25A48,missense_variant,p.Phe219Tyr,ENST00000433282,;SLC25A48,missense_variant,p.Phe273Tyr,ENST00000420621,;SLC25A48,intron_variant,,ENST00000412661,NM_145282.4;SLC25A48,downstream_gene_variant,,ENST00000425402,;SLC25A48,upstream_gene_variant,,ENST00000510147,;SLC25A48,upstream_gene_variant,,ENST00000471980,;							MODIFIER	-/474		S2548_HUMAN			Transcript			.	ENSP00000413049		CCDS43366.2			1	
PKD1L2	0	LGGM	GRCh37	16	81253761	81253761	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	23	15	.	.	ENST00000337114.4:c.215A>T	p.Gln72Leu	p.Q72L	ENST00000337114	NM_001076780.1	72	cAg/cTg	0	1	1	UPI0000E4C8FA	0		ENST00000337114		ENSG00000166473	21715		38			HGNC	p.Q72L		PKD1L2		SNV							ENST00000599697	protein_coding			Superfamily_domains:SSF56436,SMART_domains:SM00034,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877,Gene3D:3.10.100.10		Q/L		A		215/3427			deleterious(0)	Q6AI51_HUMAN				PKD1L2,missense_variant,p.Gln72Leu,ENST00000337114,NM_001076780.1;PKD1L2,missense_variant,p.Gln72Leu,ENST00000525539,NM_052892.3;							MODERATE	215/2976		PK1L2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000337397					1	
FXR1	0	LGGM	GRCh37	3	180669154	180669154	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	23	16	.	.	ENST00000357559.4:c.699A>G	p.Ala233=	p.A233=	ENST00000357559	NM_001013438.2	233	gcA/gcG	0	1	1	UPI000013EA6E	0		ENST00000357559		ENSG00000114416	4023		39			HGNC	p.A148A	COSM1566546	FXR1		SNV						1	ENST00000468861	protein_coding			PROSITE_profiles:PS50084,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		A		G		1083/8711				C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN			YES	FXR1,synonymous_variant,p.=,ENST00000357559,NM_001013438.2,NM_005087.3;FXR1,synonymous_variant,p.=,ENST00000305586,NM_001013439.2;FXR1,synonymous_variant,p.=,ENST00000445140,;FXR1,synonymous_variant,p.=,ENST00000480918,;FXR1,synonymous_variant,p.=,ENST00000468861,;FXR1,synonymous_variant,p.=,ENST00000491062,;FXR1,downstream_gene_variant,,ENST00000484958,;FXR1,downstream_gene_variant,,ENST00000465551,;FXR1,downstream_gene_variant,,ENST00000484790,;FXR1,downstream_gene_variant,,ENST00000469882,;FXR1,downstream_gene_variant,,ENST00000484042,;FXR1,non_coding_transcript_exon_variant,,ENST00000475315,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;FXR1,non_coding_transcript_exon_variant,,ENST00000473375,;FXR1,downstream_gene_variant,,ENST00000479176,;					1		LOW	699/1866		FXR1_HUMAN			Transcript			.	ENSP00000350170		CCDS3238.1			1	
GON4L	0	LGGM	GRCh37	1	155735325	155735325	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	67	16	.	.	ENST00000437809.1:c.3939A>G	p.Leu1313=	p.L1313=	ENST00000437809		1313	ctA/ctG	0	1		UPI0000351551	0		ENST00000368331		ENSG00000116580	25973		83			HGNC	p.L1313L		GON4L		SNV							ENST00000271883	protein_coding			hmmpanther:PTHR16088:SF10,hmmpanther:PTHR16088		L		C		3988/7640								GON4L,synonymous_variant,p.=,ENST00000437809,;GON4L,synonymous_variant,p.=,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,synonymous_variant,p.=,ENST00000271883,;GON4L,synonymous_variant,p.=,ENST00000361040,NM_032292.4,NM_001282861.1;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000497369,;GON4L,downstream_gene_variant,,ENST00000490801,;GON4L,downstream_gene_variant,,ENST00000496021,;							LOW	3939/6726		GON4L_HUMAN			Transcript			.	ENSP00000357315		CCDS60296.1			1	
RPS6KA2	0	LGGM	GRCh37	6	166952202	166952202	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	33	16	.	.	ENST00000503859.1:c.194C>T	p.Ser65Phe	p.S65F	ENST00000503859	NM_001006932.1	65	tCc/tTc	0	1		UPI000006DAD2	0	getma.org/pdb.php?prot=KS6A2_HUMAN&from=1&to=58&var=S57F	ENST00000265678		ENSG00000071242	10431		49	1.57		HGNC	p.S41F		RPS6KA2		SNV							ENST00000507371	protein_coding	getma.org/?cm=var&var=hg19,6,166952202,G,A&fts=all		hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF25,Gene3D:3.30.200.20,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		S/F		A	low	394/5824		getma.org/?cm=msa&ty=f&p=KS6A2_HUMAN&rb=1&re=58&var=S57F	deleterious(0)	D6RHW7_HUMAN,D6RD75_HUMAN,D6R910_HUMAN,B7Z3B5_HUMAN				RPS6KA2,missense_variant,p.Ser82Phe,ENST00000510118,;RPS6KA2,missense_variant,p.Ser57Phe,ENST00000265678,NM_021135.4;RPS6KA2,missense_variant,p.Ser65Phe,ENST00000503859,NM_001006932.1;RPS6KA2,missense_variant,p.Ser41Phe,ENST00000507371,;RPS6KA2,missense_variant,p.Ser82Phe,ENST00000506565,;RPS6KA2,5_prime_UTR_variant,,ENST00000481261,;RPS6KA2,5_prime_UTR_variant,,ENST00000405189,;RPS6KA2,5_prime_UTR_variant,,ENST00000366863,;RPS6KA2,5_prime_UTR_variant,,ENST00000511034,;RPS6KA2,5_prime_UTR_variant,,ENST00000507350,;RPS6KA2,5_prime_UTR_variant,,ENST00000512860,;Z98049.1,downstream_gene_variant,,ENST00000598601,;							MODERATE	170/2202	S57F	KS6A2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000265678		CCDS5294.1			1	
UROC1	0	LGGM	GRCh37	3	126219600	126219600	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	33	16	.	.	ENST00000383579.3:c.1263C>T	p.Phe421=	p.F421=	ENST00000383579	NM_001165974.1	421	ttC/ttT	0	1		UPI000012CEC2	0		ENST00000290868		ENSG00000159650	26444		49			HGNC	p.F421F		UROC1		SNV			1				ENST00000383579	protein_coding			HAMAP:MF_00577,hmmpanther:PTHR12216:SF3,hmmpanther:PTHR12216,Gene3D:1x87B01,Pfam_domain:PF01175,PIRSF_domain:PIRSF001423,Superfamily_domains:SSF111326		F		A		1137/3149								UROC1,synonymous_variant,p.=,ENST00000290868,NM_144639.2;UROC1,synonymous_variant,p.=,ENST00000383579,NM_001165974.1;							LOW	1083/2031		HUTU_HUMAN			Transcript			.	ENSP00000290868		CCDS3038.1			1	
SELP	0	LGGM	GRCh37	1	169586634	169586634	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	66	16	.	.	ENST00000263686.6:c.113A>T	p.Glu38Val	p.E38V	ENST00000263686	NM_003005.3	38	gAa/gTa	0	1	1	UPI0000204D4A	0	NA	ENST00000263686		ENSG00000174175	10721		82	2.33		HGNC	p.E23V		SELP		SNV			1				ENST00000458599	protein_coding	getma.org/?cm=var&var=hg19,1,169586634,T,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF19,SMART_domains:SM00034		E/V		A	medium	151/3142		getma.org/?cm=msa&ty=f&p=LYAM3_HUMAN&rb=1&re=48&var=E38V	deleterious(0)	Q6ULR6_HUMAN			YES	SELP,missense_variant,p.Glu38Val,ENST00000263686,NM_003005.3;SELP,missense_variant,p.Glu37Val,ENST00000426706,;SELP,missense_variant,p.Glu38Val,ENST00000367794,;SELP,missense_variant,p.Glu38Val,ENST00000367793,;SELP,missense_variant,p.Glu38Val,ENST00000367792,;SELP,missense_variant,p.Glu38Val,ENST00000367791,;SELP,missense_variant,p.Glu38Val,ENST00000367788,;SELP,missense_variant,p.Glu38Val,ENST00000367786,;SELP,missense_variant,p.Glu38Val,ENST00000458599,;SELP,missense_variant,p.Glu38Val,ENST00000367795,;							MODERATE	113/2493	E38V	LYAM3_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000263686		CCDS1282.1			1	
NLRP13	0	LGGM	GRCh37	19	56424575	56424575	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	28	17	.	.	ENST00000342929.3:c.608A>G	p.Tyr203Cys	p.Y203C	ENST00000342929	NM_176810.2	203	tAt/tGt	0	1	1	UPI00001AEEC8	0	NA	ENST00000342929		ENSG00000173572	22937		45	0.55		HGNC	p.Y203C		NLRP13		SNV							ENST00000342929	protein_coding	getma.org/?cm=var&var=hg19,19,56424575,T,C&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF10		Y/C		C	neutral	608/3132		getma.org/?cm=msa&ty=f&p=NAL13_HUMAN&rb=104&re=228&var=Y203C	deleterious(0.03)				YES	NLRP13,missense_variant,p.Tyr203Cys,ENST00000588751,;NLRP13,missense_variant,p.Tyr203Cys,ENST00000342929,NM_176810.2;							MODERATE	608/3132	Y203C	NAL13_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000343891		CCDS33119.1			1	
ACER1	0	LGGM	GRCh37	19	6312278	6312278	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	39	17	.	.	ENST00000301452.4:c.232A>T	p.Met78Leu	p.M78L	ENST00000301452	NM_133492.2	78	Atg/Ttg	0	1	1	UPI000003FD52	0	NA	ENST00000301452		ENSG00000167769	18356		56	2.48		HGNC	p.M78L		ACER1		SNV							ENST00000301452	protein_coding	getma.org/?cm=var&var=hg19,19,6312278,T,A&fts=all		Pfam_domain:PF05875,hmmpanther:PTHR12956,hmmpanther:PTHR12956:SF18,Transmembrane_helices:TMhelix		M/L		A	medium	310/1445		getma.org/?cm=msa&ty=f&p=ACER1_HUMAN&rb=2&re=257&var=M78L	deleterious(0.02)				YES	ACER1,missense_variant,p.Met78Leu,ENST00000301452,NM_133492.2;							MODERATE	232/795	M78L	ACER1_HUMAN			Transcript		benign(0.158)	.	ENSP00000301452		CCDS12161.1			1	
NCR3LG1	0	LGGM	GRCh37	11	17394050	17394050	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	40	17	.	.	ENST00000338965.4:c.1356C>T	p.Pro452=	p.P452=	ENST00000338965	NM_001202439.1	452	ccC/ccT	0	1	1	UPI00001F9E11	0		ENST00000338965		ENSG00000188211	42400		57			HGNC	p.P452P		NCR3LG1		SNV							ENST00000530403	protein_coding			Low_complexity_(Seg):seg		P		T		1600/6438							YES	NCR3LG1,synonymous_variant,p.=,ENST00000338965,NM_001202439.1;NCR3LG1,synonymous_variant,p.=,ENST00000530403,;							LOW	1356/1365		NR3L1_HUMAN			Transcript			.	ENSP00000341637		CCDS55748.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125175096	125175096	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	41	18	.	.	ENST00000431078.1:c.458G>A	p.Arg153His	p.R153H	ENST00000431078	NM_130773.3	153	cGc/cAc	0	1	1	UPI0000071988	0	getma.org/pdb.php?prot=CNTP5_HUMAN&from=42&to=171&var=R153H	ENST00000431078		ENSG00000155052	18748		59	4.655		HGNC	p.R153H		CNTNAP5		SNV							ENST00000431078	protein_coding	getma.org/?cm=var&var=hg19,2,125175096,G,A&fts=all		PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49899,Superfamily_domains:SSF49785		R/H		A	high	822/5284		getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=42&re=171&var=R153H	deleterious(0.01)				YES	CNTNAP5,missense_variant,p.Arg153His,ENST00000431078,NM_130773.3;							MODERATE	458/3921	R153H	CNTP5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000399013		CCDS46401.1			1	
FBXO32	0	LGGM	GRCh37	8	124547032	124547032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	28	18	.	.	ENST00000517956.1:c.139A>T	p.Asn47Tyr	p.N47Y	ENST00000517956	NM_058229.3	47	Aat/Tat	0	1	1	UPI0000034E28	0	NA	ENST00000517956		ENSG00000156804	16731		46	1.905		HGNC	p.N47Y		FBXO32		SNV							ENST00000443022	protein_coding	getma.org/?cm=var&var=hg19,8,124547032,T,A&fts=all		hmmpanther:PTHR13123:SF6,hmmpanther:PTHR13123		N/Y		A	medium	331/6744		getma.org/?cm=msa&ty=f&p=FBX32_HUMAN&rb=1&re=200&var=N47Y	tolerated(0.06)	Q498Y9_HUMAN,Q0VAQ6_HUMAN			YES	FBXO32,missense_variant,p.Asn47Tyr,ENST00000517956,NM_058229.3,NM_148177.2;FBXO32,missense_variant,p.Asn47Tyr,ENST00000443022,NM_001242463.1;FBXO32,non_coding_transcript_exon_variant,,ENST00000521719,;FBXO32,non_coding_transcript_exon_variant,,ENST00000520511,;FBXO32,upstream_gene_variant,,ENST00000287396,;							MODERATE	139/1068	N47Y	FBX32_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000428205		CCDS6345.1			1	
IPO11	0	LGGM	GRCh37	5	61783621	61783621	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	28	18	.	.	ENST00000409296.3:c.1362A>T	p.Ile454=	p.I454=	ENST00000409296	NM_001134779.1	454	atA/atT	0	1		UPI00000737DF	0		ENST00000325324		ENSG00000086200	20628		46			HGNC	p.I414I		IPO11		SNV							ENST00000325324	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF7,Superfamily_domains:SSF48371		I		T		1411/4356				E7EMB7_HUMAN,D6RJB1_HUMAN,D6RCQ2_HUMAN,D6RCN7_HUMAN				IPO11,synonymous_variant,p.=,ENST00000325324,NM_016338.4;IPO11,synonymous_variant,p.=,ENST00000409296,NM_001134779.1;KIF2A,intron_variant,,ENST00000509663,;IPO11,synonymous_variant,p.=,ENST00000424533,;IPO11,downstream_gene_variant,,ENST00000507640,;							LOW	1242/2928		IPO11_HUMAN			Transcript			.	ENSP00000316651		CCDS34167.1			1	
PRDM9	0	LGGM	GRCh37	5	23524441	23524441	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	25	19	.	.	ENST00000296682.3:c.951-2A>T		p.X317_splice	ENST00000296682	NM_020227.2			0	1	1	UPI00006C9E90	0		ENST00000296682		ENSG00000164256	13994		44			HGNC	-		PRDM9		SNV							ENST00000296682	protein_coding							T		-/3691				D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN			YES	PRDM9,splice_acceptor_variant,,ENST00000296682,NM_020227.2;							HIGH	951/2685		PRDM9_HUMAN			Transcript			.	ENSP00000296682		CCDS43307.1			1	
MGAM	0	LGGM	GRCh37	7	141730480	141730480	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	41	19	.	.	ENST00000549489.2:c.1393T>A	p.Tyr465Asn	p.Y465N	ENST00000549489	NM_004668.2	465	Tat/Aat	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=349&to=821&var=Y465N	ENST00000549489		ENSG00000257335	7043		60	2.865		HGNC	p.Y465N		MGAM		SNV							ENST00000549489	protein_coding	getma.org/?cm=var&var=hg19,7,141730480,T,A&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762		Y/N		A	medium	1488/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=349&re=821&var=Y465N	deleterious(0)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Tyr465Asn,ENST00000475668,;MGAM,missense_variant,p.Tyr465Asn,ENST00000549489,NM_004668.2;MGAM,non_coding_transcript_exon_variant,,ENST00000495045,;							MODERATE	1393/5574	Y465N	MGA_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000447378		CCDS47727.1			1	
RSRC1	0	LGGM	GRCh37	3	158178750	158178750	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	27	19	.	.	ENST00000295930.3:c.610A>G	p.Lys204Glu	p.K204E	ENST00000295930	NM_016625.3	204	Aaa/Gaa	0	1	1	UPI000006EB23	0	NA	ENST00000295930		ENSG00000174891	24152		46	1.995		HGNC	p.K204E		RSRC1		SNV							ENST00000480820	protein_coding	getma.org/?cm=var&var=hg19,3,158178750,A,G&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31968		K/E		G	medium	772/1727		getma.org/?cm=msa&ty=f&p=RSRC1_HUMAN&rb=201&re=334&var=K204E	deleterious_low_confidence(0.02)	C9JVB3_HUMAN,C9J8Q2_HUMAN,C9J367_HUMAN			YES	RSRC1,missense_variant,p.Lys146Glu,ENST00000464171,;RSRC1,missense_variant,p.Lys204Glu,ENST00000295930,NM_016625.3,NM_001271838.1;RSRC1,missense_variant,p.Lys146Glu,ENST00000312179,NM_001271834.1;RSRC1,missense_variant,p.Lys204Glu,ENST00000480820,;RSRC1,missense_variant,p.Lys204Glu,ENST00000475278,;RSRC1,missense_variant,p.Lys98Glu,ENST00000482822,;RSRC1,incomplete_terminal_codon_variant,p.=,ENST00000471994,;RSRC1,non_coding_transcript_exon_variant,,ENST00000471911,;RSRC1,3_prime_UTR_variant,,ENST00000480119,;							MODERATE	610/1005	K204E	RSRC1_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000295930		CCDS3181.1			1	
C8orf34	0	LGGM	GRCh37	8	69358615	69358615	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	38	19	.	.	ENST00000518698.1:c.527T>C	p.Leu176Ser	p.L176S	ENST00000518698	NM_052958.2	176	tTa/tCa	0	1	1	UPI000021D12D	0	NA	ENST00000518698		ENSG00000165084	30905		57	0		HGNC	p.L65S		C8orf34		SNV							ENST00000337103	protein_coding	getma.org/?cm=var&var=hg19,8,69358615,T,C&fts=all		hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF2		L/S		C	neutral	818/2223		getma.org/?cm=msa&ty=f&p=CH034_HUMAN&rb=1&re=450&var=L90S	tolerated(0.17)				YES	C8orf34,missense_variant,p.Leu65Ser,ENST00000337103,;C8orf34,missense_variant,p.Leu90Ser,ENST00000348340,NM_001195639.1;C8orf34,missense_variant,p.Leu176Ser,ENST00000518698,NM_052958.2;C8orf34,missense_variant,p.Leu90Ser,ENST00000539993,;C8orf34,missense_variant,p.Leu90Ser,ENST00000523686,;C8orf34,non_coding_transcript_exon_variant,,ENST00000349492,;C8orf34,missense_variant,p.Leu65Ser,ENST00000521406,;							MODERATE	527/1617	L90S	CH034_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000427820		CCDS6203.2			1	
ZNFX1	0	LGGM	GRCh37	20	47866179	47866179	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	51	21	.	.	ENST00000396105.1:c.3382C>T	p.His1128Tyr	p.H1128Y	ENST00000396105	NM_021035.2	1128	Cat/Tat	0	1		UPI000012DD83	0	getma.org/pdb.php?prot=ZNFX1_HUMAN&from=1051&to=1235&var=H1128Y	ENST00000371752		ENSG00000124201	29271		72	0.05		HGNC	p.H1128Y		ZNFX1		SNV							ENST00000396105	protein_coding	getma.org/?cm=var&var=hg19,20,47866179,G,A&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF341		H/Y		A	neutral	3467/7212		getma.org/?cm=msa&ty=f&p=ZNFX1_HUMAN&rb=1051&re=1235&var=H1128Y	tolerated(0.07)	Q5JXR5_HUMAN				ZNFX1,missense_variant,p.His1128Tyr,ENST00000396105,NM_021035.2;ZNFX1,missense_variant,p.His1128Tyr,ENST00000371752,;ZNFX1,intron_variant,,ENST00000371754,;ZNFX1,upstream_gene_variant,,ENST00000469991,;							MODERATE	3382/5757	H1128Y	ZNFX1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000360817		CCDS13417.1			1	
MYO15A	0	LGGM	GRCh37	17	18023193	18023193	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	9	21	.	.	ENST00000205890.5:c.1079A>G	p.Tyr360Cys	p.Y360C	ENST00000205890	NM_016239.3	360	tAc/tGc	0	1	1	UPI0000E59E6E	0	NA	ENST00000205890		ENSG00000091536	7594		30	0.695		HGNC	p.Y360C		MYO15A		SNV			1				ENST00000205890	protein_coding	getma.org/?cm=var&var=hg19,17,18023193,A,G&fts=all		Low_complexity_(Seg):seg		Y/C		G	neutral	1417/11863		getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=1&re=1179&var=Y360C		K7EQV1_HUMAN,G3V4G3_HUMAN			YES	MYO15A,missense_variant,p.Tyr360Cys,ENST00000205890,NM_016239.3;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,;							MODERATE	1079/10593	Y360C	MYO15_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000205890		CCDS42271.1			1	
MTUS1	0	LGGM	GRCh37	8	17573356	17573356	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	53	22	.	.	ENST00000262102.6:c.2504A>T	p.Gln835Leu	p.Q835L	ENST00000262102	NM_001001924.2	835	cAg/cTg	0	1	1	UPI000003FF3C	0	NA	ENST00000262102		ENSG00000129422	29789		75	1.95		HGNC	p.Q82L		MTUS1		SNV			1				ENST00000381861	protein_coding	getma.org/?cm=var&var=hg19,8,17573356,T,A&fts=all		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7		Q/L		A	medium	2729/6160		getma.org/?cm=msa&ty=f&p=MTUS1_HUMAN&rb=811&re=939&var=Q835L	deleterious(0)				YES	MTUS1,missense_variant,p.Gln781Leu,ENST00000381869,NM_001001925.2;MTUS1,missense_variant,p.Gln835Leu,ENST00000262102,NM_001001924.2;MTUS1,missense_variant,p.Gln781Leu,ENST00000519263,;MTUS1,missense_variant,p.Gln82Leu,ENST00000381861,NM_001001931.2;MTUS1,5_prime_UTR_variant,,ENST00000544260,NM_001166393.1;MTUS1,non_coding_transcript_exon_variant,,ENST00000518975,;MTUS1,non_coding_transcript_exon_variant,,ENST00000518138,;MTUS1,non_coding_transcript_exon_variant,,ENST00000524044,;MTUS1,non_coding_transcript_exon_variant,,ENST00000522149,;MTUS1,non_coding_transcript_exon_variant,,ENST00000521882,;MTUS1,3_prime_UTR_variant,,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000517721,;							MODERATE	2504/3813	Q835L	MTUS1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000262102		CCDS43717.1			1	
PNMA1	0	LGGM	GRCh37	14	74179597	74179597	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	40	22	.	.	ENST00000316836.3:c.746A>T	p.Lys249Ile	p.K249I	ENST00000316836	NM_006029.4	249	aAa/aTa	0	1	1	UPI000003779C	0	NA	ENST00000316836		ENSG00000176903	9158		62	2.235		HGNC	p.K249I		PNMA1		SNV							ENST00000316836	protein_coding	getma.org/?cm=var&var=hg19,14,74179597,T,A&fts=all		hmmpanther:PTHR23095:SF17,hmmpanther:PTHR23095,Pfam_domain:PF14893		K/I		A	medium	1532/2635		getma.org/?cm=msa&ty=f&p=PNMA1_HUMAN&rb=1&re=351&var=K249I	deleterious(0)				YES	PNMA1,missense_variant,p.Lys249Ile,ENST00000316836,NM_006029.4;ELMSAN1,downstream_gene_variant,,ENST00000286523,NM_194278.3;ELMSAN1,downstream_gene_variant,,ENST00000394071,NM_001043318.1;ELMSAN1,downstream_gene_variant,,ENST00000476562,;							MODERATE	746/1062	K249I	PNMA1_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000318914		CCDS9818.1			1	
TCF21	0	LGGM	GRCh37	6	134210881	134210881	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	44	23	.	.	ENST00000367882.4:c.346T>C	p.Ser116Pro	p.S116P	ENST00000367882	NM_003206.3	116	Tcc/Ccc	0	1		UPI0000001290	0	getma.org/pdb.php?prot=TCF21_HUMAN&from=80&to=132&var=S116P	ENST00000237316		ENSG00000118526	11632		67	1.93		HGNC	p.S116P		TCF21		SNV							ENST00000367882	protein_coding	getma.org/?cm=var&var=hg19,6,134210881,T,C&fts=all		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF51,SMART_domains:SM00353,Superfamily_domains:SSF47459		S/P		C	medium	409/3010		getma.org/?cm=msa&ty=f&p=TCF21_HUMAN&rb=80&re=132&var=S116P	deleterious(0)					TCF21,missense_variant,p.Ser116Pro,ENST00000367882,NM_003206.3;TCF21,missense_variant,p.Ser116Pro,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,;							MODERATE	346/540	S116P	TCF21_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000237316		CCDS5167.1			1	
TMTC2	0	LGGM	GRCh37	12	83379782	83379782	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	47	24	.	.	ENST00000321196.3:c.2027A>T	p.His676Leu	p.H676L	ENST00000321196	NM_152588.1	676	cAc/cTc	0	1	1	UPI0000073F0F	0	NA	ENST00000321196		ENSG00000179104	25440		71	1.935		HGNC	p.H670L		TMTC2		SNV							ENST00000549919	protein_coding	getma.org/?cm=var&var=hg19,12,83379782,A,T&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		H/L		T	medium	2734/5681		getma.org/?cm=msa&ty=f&p=TMTC2_HUMAN&rb=641&re=708&var=H676L	deleterious(0)				YES	TMTC2,missense_variant,p.His670Leu,ENST00000549919,;TMTC2,missense_variant,p.His676Leu,ENST00000321196,NM_152588.1;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;							MODERATE	2027/2511	H676L	TMTC2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000322300		CCDS9025.1			1	
OR14A2	0	LGGM	GRCh37	1	247886487	247886487	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	156	24	.	.	ENST00000366485.1:c.859A>G	p.Thr287Ala	p.T287A	ENST00000366485		287	Acc/Gcc	0	1	1	UPI000004A5E7	0		ENST00000366485		ENSG00000241128	15024		180			HGNC	p.T287A		OR14A2		SNV							ENST00000366485	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF282,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR00245		T/A		C		859/945			deleterious(0)				YES	OR14A2,missense_variant,p.Thr287Ala,ENST00000366485,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;							MODERATE	859/945		O14A2_HUMAN			Transcript		benign(0.002)	.	ENSP00000355441					1	
SHKBP1	0	LGGM	GRCh37	19	41083547	41083547	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	74	26	.	.	ENST00000291842.5:c.260+11A>G		*87*	ENST00000291842	NM_138392.3			0	1	1	UPI0000036171	0		ENST00000291842		ENSG00000160410	19214		100			HGNC	p.K91E		SHKBP1		SNV							ENST00000595803	protein_coding							G		-/2363				B3KVX8_HUMAN			YES	SHKBP1,intron_variant,,ENST00000291842,NM_138392.3;SHKBP1,intron_variant,,ENST00000600733,;SHKBP1,intron_variant,,ENST00000600718,;SHKBP1,intron_variant,,ENST00000595631,;SPTBN4,downstream_gene_variant,,ENST00000352632,;SPTBN4,downstream_gene_variant,,ENST00000598249,NM_020971.2;SPTBN4,downstream_gene_variant,,ENST00000392025,;SHKBP1,intron_variant,,ENST00000600552,;SPTBN4,downstream_gene_variant,,ENST00000593816,;SPTBN4,downstream_gene_variant,,ENST00000599926,;SHKBP1,missense_variant,p.Lys91Glu,ENST00000595803,;SHKBP1,non_coding_transcript_exon_variant,,ENST00000599716,;SHKBP1,intron_variant,,ENST00000594973,;SHKBP1,intron_variant,,ENST00000595945,;SHKBP1,intron_variant,,ENST00000599575,;SHKBP1,intron_variant,,ENST00000598558,;SHKBP1,intron_variant,,ENST00000595523,;SHKBP1,intron_variant,,ENST00000597325,;SPTBN4,downstream_gene_variant,,ENST00000597389,;SHKBP1,upstream_gene_variant,,ENST00000598201,;SPTBN4,downstream_gene_variant,,ENST00000596411,;SPTBN4,downstream_gene_variant,,ENST00000595690,;SHKBP1,upstream_gene_variant,,ENST00000598907,;SHKBP1,upstream_gene_variant,,ENST00000595874,;							MODIFIER	-/2124		SHKB1_HUMAN			Transcript			.	ENSP00000291842		CCDS12560.1			1	
OR11G2	0	LGGM	GRCh37	14	20666511	20666511	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	64	26	.	.	ENST00000357366.3:c.1017G>C	p.Leu339=	p.L339=	ENST00000357366	NM_001005503.1	339	ctG/ctC	0	1	1	UPI000015F241	0		ENST00000357366		ENSG00000196832	15346		90			HGNC	p.L339L		OR11G2		SNV							ENST00000357366	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF183,Superfamily_domains:SSF81321		L		C		1017/1111							YES	OR11G2,synonymous_variant,p.=,ENST00000357366,NM_001005503.1;							LOW	1017/1038		O11G2_HUMAN			Transcript			.	ENSP00000349930		CCDS32032.1			1	
PRRC2B	0	LGGM	GRCh37	9	134357857	134357857	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	50	26	.	.	ENST00000357304.4:c.5083A>G	p.Thr1695Ala	p.T1695A	ENST00000357304	NM_013318.3	1695	Act/Gct	0	1	1	UPI00002374A3	0	NA	ENST00000357304		ENSG00000130723	28121		76	1.355		HGNC	p.T1695A		PRRC2B		SNV							ENST00000357304	protein_coding	getma.org/?cm=var&var=hg19,9,134357857,A,G&fts=all		hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		T/A		G	low	5138/11042		getma.org/?cm=msa&ty=f&p=PRC2B_HUMAN&rb=1595&re=1794&var=T1695A	tolerated(0.25)	Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,missense_variant,p.Thr1695Ala,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Thr1001Ala,ENST00000405995,;PRRC2B,missense_variant,p.Thr1001Ala,ENST00000458550,;PRRC2B,missense_variant,p.Thr428Ala,ENST00000451855,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,upstream_gene_variant,,ENST00000320547,;SNORD62A,upstream_gene_variant,,ENST00000428514,NR_002914.1;							MODERATE	5083/6690	T1695A	PRC2B_HUMAN			Transcript		benign(0.005)	.	ENSP00000349856		CCDS48044.1			1	
VPS8	0	LGGM	GRCh37	3	184675304	184675304	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	40	27	.	.	ENST00000437079.3:c.3178A>T	p.Ile1060Phe	p.I1060F	ENST00000437079	NM_001009921.2	1060	Att/Ttt	0	1	1	UPI0000160BDC	0	NA	ENST00000437079		ENSG00000156931	29122		67	2.125		HGNC	p.I1060F		VPS8		SNV							ENST00000287546	protein_coding	getma.org/?cm=var&var=hg19,3,184675304,A,T&fts=all		hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19		I/F		T	medium	3349/5047		getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=997&re=1196&var=I1060F	deleterious(0.01)	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN			YES	VPS8,missense_variant,p.Ile1060Phe,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Ile1060Phe,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Ile1058Phe,ENST00000436792,;VPS8,missense_variant,p.Ile968Phe,ENST00000446204,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;							MODERATE	3178/4287	I1060F	VPS8_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000397879		CCDS46971.1			1	
MUC16	0	LGGM	GRCh37	19	9062393	9062393	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	57	28	.	.	ENST00000397910.4:c.25053A>T	p.Thr8351=	p.T8351=	ENST00000397910	NM_024690.2	8351	acA/acT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		85			HGNC	p.T8351T		MUC16		SNV							ENST00000397910	protein_coding					T		A		25257/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	25053/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
OR2W3	0	LGGM	GRCh37	1	248059236	248059236	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	57	29	.	.	ENST00000537741.1:c.348T>A	p.Ala116=	p.A116=	ENST00000537741		116	gcT/gcA	0	1		UPI0000061EA8	0		ENST00000360358		ENSG00000238243	15021		86			HGNC	p.A116A		OR2W3		SNV							ENST00000537741	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		A		A		348/945								OR2W3,synonymous_variant,p.=,ENST00000537741,;OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;							LOW	348/945		OR2W3_HUMAN			Transcript			.	ENSP00000353516		CCDS31099.1			1	
SCP2	0	LGGM	GRCh37	1	53440493	53440493	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	35	29	.	.	ENST00000371514.3:c.576A>C	p.Ser192=	p.S192=	ENST00000371514	NM_002979.4	192	tcA/tcC	0	1	1	UPI0000130258	0		ENST00000371514		ENSG00000116171	10606		64			HGNC	p.S148S		SCP2		SNV			1				ENST00000371509	protein_coding			hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Gene3D:3.40.47.10,Superfamily_domains:SSF53901		S		C		744/2811							YES	SCP2,synonymous_variant,p.=,ENST00000371514,NM_002979.4;SCP2,synonymous_variant,p.=,ENST00000407246,NM_001193599.1;SCP2,synonymous_variant,p.=,ENST00000371513,NM_001007098.2;SCP2,synonymous_variant,p.=,ENST00000528311,NM_001193617.1;SCP2,synonymous_variant,p.=,ENST00000371509,NM_001193600.1;SCP2,synonymous_variant,p.=,ENST00000529363,;SCP2,non_coding_transcript_exon_variant,,ENST00000473584,;SCP2,intron_variant,,ENST00000528809,;SCP2,synonymous_variant,p.=,ENST00000478631,;							LOW	576/1644		NLTP_HUMAN			Transcript			.	ENSP00000360569		CCDS572.1			1	
OTOGL	0	LGGM	GRCh37	12	80770952	80770952	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	46	29	.	.	ENST00000458043.2:c.6804A>T	p.Ile2268=	p.I2268=	ENST00000458043	NM_173591.3	2268	atA/atT	0	1		UPI00020CE39B	0		ENST00000547103		ENSG00000165899	26901		75			HGNC	p.I2256I		OTOGL		SNV			1				ENST00000547103	protein_coding			PROSITE_profiles:PS01225,hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,SMART_domains:SM00041		I		T		6774/8032				E2QRK2_HUMAN				OTOGL,synonymous_variant,p.=,ENST00000458043,NM_173591.3;OTOGL,synonymous_variant,p.=,ENST00000547103,;OTOGL,synonymous_variant,p.=,ENST00000298820,;OTOGL,synonymous_variant,p.=,ENST00000546620,;OTOGL,3_prime_UTR_variant,,ENST00000551340,;							LOW	6768/6999		OTOGL_HUMAN			Transcript			.	ENSP00000447211					1	
KIAA1551	0	LGGM	GRCh37	12	32138235	32138235	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	44	32	.	.	ENST00000312561.4:c.4346A>G	p.Tyr1449Cys	p.Y1449C	ENST00000312561	NM_018169.3	1449	tAt/tGt	0	1	1	UPI0000577B2F	0	NA	ENST00000312561		ENSG00000174718	25559		76	2.045		HGNC	p.Y1449C	rs755548141	KIAA1551		SNV							ENST00000312561	protein_coding	getma.org/?cm=var&var=hg19,12,32138235,A,G&fts=all		Pfam_domain:PF15395,hmmpanther:PTHR21604		Y/C		G	medium	4760/6228	1.52E-05	getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=1374&re=1573&var=Y1449C	deleterious(0.05)	J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,missense_variant,p.Tyr1449Cys,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,;							MODERATE	4346/5244	Y1449C	K1551_HUMAN			Transcript		benign(0.027)	.	ENSP00000310338	8.24E-06	CCDS8725.2			1	
C2orf71	0	LGGM	GRCh37	2	29296239	29296239	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	34	32	.	.	ENST00000331664.5:c.889A>G	p.Ser297Gly	p.S297G	ENST00000331664	NM_001029883.2	297	Agc/Ggc	0	1	1	UPI0000251DD8	0	NA	ENST00000331664		ENSG00000179270	34383		66	0.345		HGNC	p.S297G		C2orf71		SNV			1				ENST00000331664	protein_coding	getma.org/?cm=var&var=hg19,2,29296239,T,C&fts=all		hmmpanther:PTHR22017,Pfam_domain:PF15449		S/G		C	neutral	889/7044		getma.org/?cm=msa&ty=f&p=CB071_HUMAN&rb=1&re=1286&var=S297G	tolerated(0.7)				YES	C2orf71,missense_variant,p.Ser297Gly,ENST00000331664,NM_001029883.2;							MODERATE	889/3867	S297G	CB071_HUMAN			Transcript		benign(0.017)	.	ENSP00000332809		CCDS42669.1			1	
ANKRD62	0	LGGM	GRCh37	18	12095443	12095443	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	61	34	.	.	ENST00000587848.2:c.341A>T	p.Gln114Leu	p.Q114L	ENST00000587848		114	cAa/cTa	0	1	1	UPI0000DD848C	0		ENST00000587848		ENSG00000181626	35241		95			HGNC	p.Q100L		ANKRD62		SNV							ENST00000314074	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24147,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		Q/L		T		506/2919			deleterious(0.03)	K7EQA3_HUMAN,J3QTZ2_HUMAN			YES	ANKRD62,missense_variant,p.Gln100Leu,ENST00000314074,NM_001277333.1;ANKRD62,missense_variant,p.Gln114Leu,ENST00000587848,;RNU6-324P,upstream_gene_variant,,ENST00000363957,;RP11-815J4.5,upstream_gene_variant,,ENST00000589352,;							MODERATE	341/2754		ANR62_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000467740		CCDS67439.1			1	
GAD2	0	LGGM	GRCh37	10	26513521	26513521	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	67	34	.	.	ENST00000376261.3:c.665A>G	p.Lys222Arg	p.K222R	ENST00000376261	NM_001134366.1	222	aAg/aGg	0	1		UPI0000033835	0	getma.org/pdb.php?prot=DCE2_HUMAN&from=138&to=509&var=K222R	ENST00000259271		ENSG00000136750	4093		101	0.63		HGNC	p.K222R		GAD2		SNV							ENST00000259271	protein_coding	getma.org/?cm=var&var=hg19,10,26513521,A,G&fts=all		hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF77,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383		K/R		G	neutral	810/2462		getma.org/?cm=msa&ty=f&p=DCE2_HUMAN&rb=138&re=509&var=K222R	tolerated(0.37)	Q9UGI5_HUMAN,Q5VZ30_HUMAN				GAD2,missense_variant,p.Lys222Arg,ENST00000376261,NM_001134366.1;GAD2,missense_variant,p.Lys222Arg,ENST00000259271,NM_000818.2;GAD2,missense_variant,p.Lys108Arg,ENST00000376248,;							MODERATE	665/1758	K222R	DCE2_HUMAN			Transcript		benign(0.002)	.	ENSP00000259271		CCDS7149.1			1	
EHD3	0	LGGM	GRCh37	2	31483754	31483754	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	53	36	.	.	ENST00000322054.5:c.881T>A	p.Leu294His	p.L294H	ENST00000322054	NM_014600.2	294	cTc/cAc	0	1	1	UPI0000140D07	0	getma.org/pdb.php?prot=EHD3_HUMAN&from=222&to=421&var=L294H	ENST00000322054		ENSG00000013016	3244		89	3.235		HGNC	p.L294H		EHD3		SNV							ENST00000322054	protein_coding	getma.org/?cm=var&var=hg19,2,31483754,T,A&fts=all		hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Superfamily_domains:SSF52540		L/H		A	medium	1166/4636		getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=222&re=421&var=L294H	deleterious(0)				YES	EHD3,missense_variant,p.Leu294His,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;							MODERATE	881/1608	L294H	EHD3_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000327116		CCDS1774.1			1	
SLC17A2	0	LGGM	GRCh37	6	25925996	25925996	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	103	41	.	.	ENST00000360488.3:c.28+1G>T		p.X10_splice	ENST00000360488	NM_005835.2			0	1		UPI0000470B4D	0		ENST00000265425		ENSG00000112337	10930		144			HGNC	-		SLC17A2		SNV							ENST00000377850	protein_coding							A		-/1493								SLC17A2,splice_donor_variant,,ENST00000377850,NM_001286123.1;SLC17A2,splice_donor_variant,,ENST00000360488,NM_005835.2;SLC17A2,splice_donor_variant,,ENST00000265425,;							HIGH	28/1320		NPT3_HUMAN			Transcript			.	ENSP00000265425					1	
SC5D	0	LGGM	GRCh37	11	121177785	121177785	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080015	H080015N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	68	42	.	.	ENST00000264027.4:c.464A>G	p.His155Arg	p.H155R	ENST00000264027	NM_006918.4	155	cAt/cGt	0	1	1	UPI000013D4A4	0	NA	ENST00000264027		ENSG00000109929	10547		110	4.095		HGNC	p.H155R		SC5D		SNV			1				ENST00000264027	protein_coding	getma.org/?cm=var&var=hg19,11,121177785,A,G&fts=all		hmmpanther:PTHR11863:SF33,hmmpanther:PTHR11863,Pfam_domain:PF04116		H/R		G	high	838/2456		getma.org/?cm=msa&ty=f&p=SC5D_HUMAN&rb=123&re=234&var=H155R	deleterious(0)	Q6GTM5_HUMAN			YES	SC5D,missense_variant,p.His155Arg,ENST00000264027,NM_006918.4;SC5D,missense_variant,p.His155Arg,ENST00000392789,NM_001024956.2;SC5D,missense_variant,p.His155Arg,ENST00000534230,;SC5D,missense_variant,p.His162Arg,ENST00000527762,;SC5D,non_coding_transcript_exon_variant,,ENST00000528991,;SC5D,non_coding_transcript_exon_variant,,ENST00000527183,;SC5D,downstream_gene_variant,,ENST00000524683,;SC5D,downstream_gene_variant,,ENST00000534455,;SC5D,downstream_gene_variant,,ENST00000531140,;							MODERATE	464/900	H155R	SC5D_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264027		CCDS8435.1			1	
ADAM17	0	LGGM	GRCh37	2	9642349	9642349	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	119	46	.	.	ENST00000310823.3:c.1601G>A	p.Cys534Tyr	p.C534Y	ENST00000310823	NM_003183.4	534	tGc/tAc	0	1	1	UPI00001254D4	0	getma.org/pdb.php?prot=ADA17_HUMAN&from=484&to=561&var=C534Y	ENST00000310823		ENSG00000151694	195		165	4.15		HGNC	p.C534Y		ADAM17		SNV			1				ENST00000310823	protein_coding	getma.org/?cm=var&var=hg19,2,9642349,C,T&fts=all		PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121,Gene3D:4.10.70.10,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552		C/Y		T	high	1784/4349		getma.org/?cm=msa&ty=f&p=ADA17_HUMAN&rb=484&re=561&var=C534Y	deleterious(0)	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN			YES	ADAM17,missense_variant,p.Cys534Tyr,ENST00000310823,NM_003183.4;RP11-400L8.2,upstream_gene_variant,,ENST00000480764,;RP11-400L8.2,upstream_gene_variant,,ENST00000472619,;							MODERATE	1601/2475	C534Y	ADA17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000309968		CCDS1665.1			1	
SMC6	0	LGGM	GRCh37	2	17896222	17896222	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080015	H080015N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	61	52	.	.	ENST00000448223.2:c.1636C>T	p.Gln546Ter	p.Q546*	ENST00000448223	NM_001142286.1	546	Cag/Tag	0	1		UPI0000073C3B	0	NA	ENST00000351948		ENSG00000163029	20466		113	0		HGNC	p.Q546X		SMC6		SNV							ENST00000402989	protein_coding	getma.org/?cm=var&var=hg19,2,17896222,G,A&fts=all		Pfam_domain:PF02463,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF2		Q/*		A	NA	1846/5173		NA		C9JEF0_HUMAN				SMC6,stop_gained,p.Gln546Ter,ENST00000448223,NM_001142286.1;SMC6,stop_gained,p.Gln546Ter,ENST00000351948,NM_024624.5;SMC6,stop_gained,p.Gln546Ter,ENST00000402989,;SMC6,stop_gained,p.Gln572Ter,ENST00000381272,;SMC6,stop_gained,p.Gln572Ter,ENST00000446852,;SMC6,upstream_gene_variant,,ENST00000430591,;							HIGH	1636/3276	Q546*	SMC6_HUMAN			Transcript			.	ENSP00000323439		CCDS1690.1			1	
ATRX	0	LGGM	GRCh37	X	76939361	76939361	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	135	69	.	.	ENST00000373344.5:c.1387A>T	p.Lys463Ter	p.K463*	ENST00000373344	NM_000489.3	463	Aaa/Taa	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		204	0		HGNC	p.K463X		ATRX		SNV			1				ENST00000373344	protein_coding	getma.org/?cm=var&var=hg19,X,76939361,T,A&fts=all		hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		K/*		A	NA	1602/11167		NA		B4DLE1_HUMAN			YES	ATRX,stop_gained,p.Lys463Ter,ENST00000373344,NM_000489.3;ATRX,stop_gained,p.Lys425Ter,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;							HIGH	1387/7479	K463*	ATRX_HUMAN			Transcript			.	ENSP00000362441		CCDS14434.1			1	
DYSF	0	LGGM	GRCh37	2	71795379	71795379	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	74	72	.	.	ENST00000410020.3:c.2775C>T	p.Val925=	p.V925=	ENST00000410020	NM_001130987.1	925	gtC/gtT	0	1		UPI0000129A56	0		ENST00000258104		ENSG00000135636	3097		146			HGNC	p.V925V		DYSF		SNV			1				ENST00000410020	protein_coding			SMART_domains:SM00693,hmmpanther:PTHR12546:SF35,hmmpanther:PTHR12546		V		T		2998/6796				Q7Z6P1_HUMAN,B7Z2R1_HUMAN				DYSF,synonymous_variant,p.=,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,synonymous_variant,p.=,ENST00000409582,NM_001130981.1;DYSF,synonymous_variant,p.=,ENST00000413539,NM_001130979.1;DYSF,synonymous_variant,p.=,ENST00000429174,NM_001130978.1,NM_001130977.1;DYSF,synonymous_variant,p.=,ENST00000409762,NM_001130980.1;DYSF,synonymous_variant,p.=,ENST00000410020,NM_001130987.1;DYSF,synonymous_variant,p.=,ENST00000409651,NM_001130982.1;DYSF,synonymous_variant,p.=,ENST00000409366,NM_001130983.1;DYSF,synonymous_variant,p.=,ENST00000410041,NM_001130985.1;DYSF,synonymous_variant,p.=,ENST00000409744,NM_001130984.1;DYSF,synonymous_variant,p.=,ENST00000394120,NM_001130986.1,NM_001130455.1;DYSF,upstream_gene_variant,,ENST00000461565,;							LOW	2721/6243		DYSF_HUMAN			Transcript			.	ENSP00000258104		CCDS1918.1			1	
RHEBL1	0	LGGM	GRCh37	12	49460300	49460300	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080015	H080015N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	145	100	.	.	ENST00000301068.6:c.291G>A	p.Glu97=	p.E97=	ENST00000301068	NM_144593.1	97	gaG/gaA	0	1	1	UPI00000412A8	0		ENST00000301068		ENSG00000167550	21166		245			HGNC	p.E97E		RHEBL1		SNV							ENST00000301068	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF217,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		E		T		531/1210							YES	RHEBL1,synonymous_variant,p.=,ENST00000301068,NM_144593.1;RHEBL1,synonymous_variant,p.=,ENST00000550675,;RHEBL1,3_prime_UTR_variant,,ENST00000550797,;RHEBL1,3_prime_UTR_variant,,ENST00000420065,;							LOW	291/552		REBL1_HUMAN			Transcript			.	ENSP00000301068		CCDS8778.1			1	
ROBO1	0	LGGM	GRCh37	3	78656000	78656000	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080015	H080015N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080015N.bam, H080015T.bam	Illumina HiSeq	190	101	.	.	ENST00000464233.1:c.4627A>G	p.Met1543Val	p.M1543V	ENST00000464233	NM_002941.3	1543	Atg/Gtg	0	1	1	UPI00000713D9	0	NA	ENST00000464233		ENSG00000169855	10249		291	0.345		HGNC	p.M1543V		ROBO1		SNV							ENST00000464233	protein_coding	getma.org/?cm=var&var=hg19,3,78656000,T,C&fts=all		hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489		M/V		C	neutral	4741/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=1409&re=1608&var=M1543V	tolerated_low_confidence(0.38)				YES	ROBO1,missense_variant,p.Met1504Val,ENST00000436010,;ROBO1,missense_variant,p.Met1543Val,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Met1498Val,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Met1443Val,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000466906,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;							MODERATE	4627/4956	M1543V	ROBO1_HUMAN			Transcript		benign(0)	.	ENSP00000420321		CCDS54611.1			1	
CYGB	0	LGGM	GRCh37	17	74527096	74527096	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	3	2	.	.	ENST00000293230.5:c.504A>G	p.Glu168=	p.E168=	ENST00000293230	NM_134268.4	168	gaA/gaG	0	1	1	UPI00000015D3	0		ENST00000293230		ENSG00000161544	16505		5			HGNC	p.E168E		CYGB		SNV							ENST00000293230	protein_coding			hmmpanther:PTHR11442,hmmpanther:PTHR11442:SF32,Superfamily_domains:SSF46458		E		C		867/2158				K7EIM9_HUMAN			YES	CYGB,synonymous_variant,p.=,ENST00000293230,NM_134268.4;CYGB,synonymous_variant,p.=,ENST00000590175,;CYGB,synonymous_variant,p.=,ENST00000589145,;CYGB,intron_variant,,ENST00000589342,;PRCD,intron_variant,,ENST00000592432,;PRCD,intron_variant,,ENST00000397633,;CYGB,upstream_gene_variant,,ENST00000586160,;							LOW	504/573		CYGB_HUMAN			Transcript			.	ENSP00000293230		CCDS11746.1			1	
ZBTB4	0	LGGM	GRCh37	17	7369539	7369539	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	7	2	.	.	ENST00000311403.4:c.582C>T	p.Ala194=	p.A194=	ENST00000311403	NM_020899.3	194	gcC/gcT	0	1	1	UPI00001A9C9A	0		ENST00000311403		ENSG00000174282	23847		9			HGNC	p.A194A		ZBTB4		SNV							ENST00000311403	protein_coding			hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF0		A		A		922/5956				B3KVD4_HUMAN			YES	ZBTB4,synonymous_variant,p.=,ENST00000311403,NM_020899.3;ZBTB4,synonymous_variant,p.=,ENST00000380599,NM_001128833.1;							LOW	582/3042		ZBTB4_HUMAN			Transcript			.	ENSP00000307858		CCDS11107.1			1	
HDGF	0	LGGM	GRCh37	1	156722021	156722021	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	18	3	.	.	ENST00000368206.5:c.135G>T	p.Thr45=	p.T45=	ENST00000368206	NM_001126050.1	45	acG/acT	0	1		UPI0000044935	0		ENST00000357325		ENSG00000143321	4856		21		485	HGNC	p.T45T		HDGF		SNV							ENST00000368206	protein_coding							A		-/2380				A8K8G0_HUMAN				HDGF,splice_region_variant,p.=,ENST00000368206,NM_001126050.1;HDGF,5_prime_UTR_variant,,ENST00000368209,NM_001126051.1;HDGF,upstream_gene_variant,,ENST00000357325,NM_004494.2;HDGF,upstream_gene_variant,,ENST00000537739,;HDGF,upstream_gene_variant,,ENST00000416666,;HDGF,splice_region_variant,,ENST00000471377,;HDGF,intron_variant,,ENST00000465180,;PRCC,intron_variant,,ENST00000491853,;HDGF,upstream_gene_variant,,ENST00000482651,;HDGF,upstream_gene_variant,,ENST00000469145,;HDGF,upstream_gene_variant,,ENST00000495212,;							MODIFIER	-/723		HDGF_HUMAN			Transcript			.	ENSP00000349878		CCDS1156.1			1	
TMEM145	0	LGGM	GRCh37	19	42819541	42819541	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	3	.	.	ENST00000301204.3:c.595C>A	p.Gln199Lys	p.Q199K	ENST00000301204	NM_173633.2	199	Cag/Aag	0	1	1	UPI000013E6E6	0	NA	ENST00000301204		ENSG00000167619	26912		45	2.045		HGNC	p.Q199K		TMEM145		SNV							ENST00000301204	protein_coding	getma.org/?cm=var&var=hg19,19,42819541,C,A&fts=all		hmmpanther:PTHR23252,hmmpanther:PTHR23252:SF24,Pfam_domain:PF10192		Q/K		A	medium	636/1768		getma.org/?cm=msa&ty=f&p=TM145_HUMAN&rb=143&re=397&var=Q199K	deleterious(0.02)				YES	TMEM145,missense_variant,p.Gln223Lys,ENST00000598766,;TMEM145,missense_variant,p.Gln199Lys,ENST00000301204,NM_173633.2;PRR19,downstream_gene_variant,,ENST00000499536,;PRR19,downstream_gene_variant,,ENST00000598490,;PRR19,downstream_gene_variant,,ENST00000341747,NM_199285.2;TMEM145,upstream_gene_variant,,ENST00000601644,;TMEM145,downstream_gene_variant,,ENST00000601020,;TMEM145,downstream_gene_variant,,ENST00000595775,;							MODERATE	595/1482	Q199K	TM145_HUMAN			Transcript		benign(0.428)	.	ENSP00000301204		CCDS12603.1			1	
PSMD13	0	LGGM	GRCh37	11	244058	244058	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	3	.	.	ENST00000431206.2:c.113C>A	p.Ser38Ter	p.S38*	ENST00000431206	NM_175932.2	38	tCa/tAa	0	1		UPI0000158430	0		ENST00000532097		ENSG00000185627	9558		24			HGNC	p.S38X		PSMD13		SNV							ENST00000431206	protein_coding			hmmpanther:PTHR10539		I		A		696/1991				Q9UNM7_HUMAN,E9PQG3_HUMAN,E9PPD2_HUMAN				PSMD13,stop_gained,p.Ser38Ter,ENST00000431206,NM_175932.2;PSMD13,synonymous_variant,p.=,ENST00000532097,NM_002817.3;PSMD13,synonymous_variant,p.=,ENST00000352303,;PSMD13,intron_variant,,ENST00000528906,;PSMD13,upstream_gene_variant,,ENST00000526783,;PSMD13,synonymous_variant,p.=,ENST00000525665,;PSMD13,synonymous_variant,p.=,ENST00000529372,;PSMD13,non_coding_transcript_exon_variant,,ENST00000527047,;PSMD13,non_coding_transcript_exon_variant,,ENST00000534590,;PSMD13,intron_variant,,ENST00000382671,;PSMD13,upstream_gene_variant,,ENST00000533717,;							LOW	192/1131		PSD13_HUMAN			Transcript			.	ENSP00000436186		CCDS7692.1			1	
IL17RA	0	LGGM	GRCh37	22	17589230	17589230	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	17	3	.	.	ENST00000319363.6:c.1121C>A	p.Pro374Gln	p.P374Q	ENST00000319363	NM_014339.6	374	cCg/cAg	0	1	1	UPI000005031F	0	NA	ENST00000319363		ENSG00000177663	5985		20	2.25		HGNC	p.P374Q		IL17RA		SNV			1				ENST00000319363	protein_coding	getma.org/?cm=var&var=hg19,22,17589230,C,A&fts=all		hmmpanther:PTHR15583:SF1,hmmpanther:PTHR15583		P/Q		A	medium	1254/8607		getma.org/?cm=msa&ty=f&p=I17RA_HUMAN&rb=201&re=377&var=P374Q	deleterious(0)	F1JZ08_HUMAN			YES	IL17RA,missense_variant,p.Pro374Gln,ENST00000319363,NM_014339.6;							MODERATE	1121/2601	P374Q	I17RA_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000320936		CCDS13739.1			1	
ARHGEF5	0	LGGM	GRCh37	7	144061240	144061240	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	31	3	.	.	ENST00000056217.5:c.1478G>T	p.Gly493Val	p.G493V	ENST00000056217	NM_005435.3	493	gGa/gTa	0	1	1	UPI00004028DC	0	NA	ENST00000056217		ENSG00000050327	13209		34	1.355		HGNC	p.G493V		ARHGEF5		SNV							ENST00000056217	protein_coding	getma.org/?cm=var&var=hg19,7,144061240,G,T&fts=all		hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845		G/V		T	low	1652/5544		getma.org/?cm=msa&ty=f&p=ARHG5_HUMAN&rb=1&re=596&var=G493V	deleterious(0.04)	H9XFB6_HUMAN			YES	ARHGEF5,missense_variant,p.Gly493Val,ENST00000056217,NM_005435.3;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000474817,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;							MODERATE	1478/4794	G493V	ARHG5_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000056217		CCDS34771.1			1	
POLD2	0	LGGM	GRCh37	7	44157649	44157649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	35	3	.	.	ENST00000406581.2:c.235G>T	p.Val79Leu	p.V79L	ENST00000406581	NM_001256879.1	79	Gtg/Ttg	0	1	1	UPI000004D0E7	0	getma.org/pdb.php?prot=DPOD2_HUMAN&from=1&to=195&var=V79L	ENST00000406581		ENSG00000106628	9176		38	2.01		HGNC	p.V79L		POLD2		SNV							ENST00000456038	protein_coding	getma.org/?cm=var&var=hg19,7,44157649,C,A&fts=all		hmmpanther:PTHR10416,hmmpanther:PTHR10416:SF0		V/L		A	medium	885/2158		getma.org/?cm=msa&ty=f&p=DPOD2_HUMAN&rb=1&re=195&var=V79L	tolerated(0.34)	C9JLE1_HUMAN,C9J8Z7_HUMAN,C9IZD2_HUMAN,A4D2J4_HUMAN			YES	POLD2,missense_variant,p.Val79Leu,ENST00000406581,NM_001256879.1;POLD2,missense_variant,p.Val79Leu,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,missense_variant,p.Val79Leu,ENST00000223361,;POLD2,missense_variant,p.Val79Leu,ENST00000433715,;POLD2,missense_variant,p.Val79Leu,ENST00000456038,;POLD2,missense_variant,p.Val79Leu,ENST00000418438,;POLD2,intron_variant,,ENST00000436844,;AEBP1,downstream_gene_variant,,ENST00000223357,NM_001129.4;AEBP1,downstream_gene_variant,,ENST00000450684,;POLD2,upstream_gene_variant,,ENST00000436400,;POLD2,downstream_gene_variant,,ENST00000481763,;POLD2,non_coding_transcript_exon_variant,,ENST00000463464,;POLD2,non_coding_transcript_exon_variant,,ENST00000470867,;POLD2,non_coding_transcript_exon_variant,,ENST00000464871,;POLD2,non_coding_transcript_exon_variant,,ENST00000496539,;POLD2,non_coding_transcript_exon_variant,,ENST00000467469,;POLD2,non_coding_transcript_exon_variant,,ENST00000461116,;AEBP1,downstream_gene_variant,,ENST00000413907,;POLD2,upstream_gene_variant,,ENST00000481104,;POLD2,upstream_gene_variant,,ENST00000489883,;							MODERATE	235/1410	V79L	DPOD2_HUMAN			Transcript		benign(0.003)	.	ENSP00000386105		CCDS5477.1			1	
WDFY2	0	LGGM	GRCh37	13	52249324	52249324	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	3	.	.	ENST00000298125.5:c.224C>A	p.Ser75Tyr	p.S75Y	ENST00000298125	NM_052950.3	75	tCt/tAt	0	1	1	UPI00000466AC	0	NA	ENST00000298125		ENSG00000139668	20482		45	0.35		HGNC	p.S75Y		WDFY2		SNV							ENST00000298125	protein_coding	getma.org/?cm=var&var=hg19,13,52249324,C,A&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR13856,hmmpanther:PTHR13856:SF84,PROSITE_profiles:PS50294		S/Y		A	neutral	404/3649		getma.org/?cm=msa&ty=f&p=WDFY2_HUMAN&rb=1&re=188&var=S75Y	tolerated(1)				YES	WDFY2,missense_variant,p.Ser75Tyr,ENST00000298125,NM_052950.3;							MODERATE	224/1203	S75Y	WDFY2_HUMAN			Transcript		benign(0.034)	.	ENSP00000298125		CCDS9429.1			1	
ZFR2	0	LGGM	GRCh37	19	3821394	3821394	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	13	3	.	.	ENST00000262961.4:c.1575G>T	p.Gln525His	p.Q525H	ENST00000262961	NM_015174.1	525	caG/caT	0	1	1	UPI0000DD84BE	0	NA	ENST00000262961		ENSG00000105278	29189		16	1.59		HGNC	p.Q525H		ZFR2		SNV							ENST00000262961	protein_coding	getma.org/?cm=var&var=hg19,19,3821394,C,A&fts=all		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF85		Q/H		A	low	1586/4756		getma.org/?cm=msa&ty=f&p=ZFR2_HUMAN&rb=493&re=657&var=Q525H	deleterious(0.01)				YES	ZFR2,missense_variant,p.Gln525His,ENST00000262961,NM_015174.1;ZFR2,downstream_gene_variant,,ENST00000438164,;							MODERATE	1575/2820	Q525H	ZFR2_HUMAN			Transcript		benign(0.274)	.	ENSP00000262961		CCDS45921.1			1	
DPCD	0	LGGM	GRCh37	10	103369198	103369198	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	19	3	.	.	ENST00000370151.4:c.582C>A	p.His194Gln	p.H194Q	ENST00000370151	NM_015448.1	194	caC/caA	0	1	1	UPI0000073BC7	0	NA	ENST00000370151		ENSG00000166171	24542		22	1.1		HGNC	p.H194Q		DPCD		SNV							ENST00000370151	protein_coding	getma.org/?cm=var&var=hg19,10,103369198,C,A&fts=all		hmmpanther:PTHR31921:SF1,hmmpanther:PTHR31921,Pfam_domain:PF14913		H/Q		A	low	631/858		getma.org/?cm=msa&ty=f&p=DPCD_HUMAN&rb=1&re=201&var=H194Q	tolerated(0.41)				YES	DPCD,missense_variant,p.His194Gln,ENST00000370151,NM_015448.1;DPCD,3_prime_UTR_variant,,ENST00000370147,;FBXW4,downstream_gene_variant,,ENST00000331272,NM_022039.3;DPCD,downstream_gene_variant,,ENST00000370148,;DPCD,downstream_gene_variant,,ENST00000434727,;DPCD,non_coding_transcript_exon_variant,,ENST00000475443,;FBXW4,downstream_gene_variant,,ENST00000470093,;FBXW4,downstream_gene_variant,,ENST00000482428,;							MODERATE	582/612	H194Q	DPCD_HUMAN			Transcript		benign(0.088)	.	ENSP00000359170		CCDS7514.1			1	
TDRD15	0	LGGM	GRCh37	2	21363329	21363329	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	3	.	.	ENST00000405799.1:c.2990A>T	p.Lys997Ile	p.K997I	ENST00000405799		997	aAa/aTa	0	1	1	UPI000173A3F5	0		ENST00000405799		ENSG00000218819	45037		45			HGNC	p.K997I		TDRD15		SNV							ENST00000405799	protein_coding			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF2,Pfam_domain:PF00567,Gene3D:2.30.30.140,Superfamily_domains:SSF63748		K/I		T		3320/6135			deleterious(0)				YES	TDRD15,missense_variant,p.Lys997Ile,ENST00000405799,;							MODERATE	2990/5805		TDR15_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000384376					1	
CDH1	0	LGGM	GRCh37	16	68845654	68845654	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	47	3	.	.	ENST00000261769.5:c.900C>A	p.Ile300=	p.I300=	ENST00000261769	NM_004360.3	300	atC/atA	0	1	1	UPI00000341EF	0		ENST00000261769		ENSG00000039068	1748		50			HGNC	p.I248I	COSM1379157	CDH1		SNV			1			1	ENST00000566510	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		I		A		1091/4889				B3GN61_HUMAN			YES	CDH1,synonymous_variant,p.=,ENST00000261769,NM_004360.3;CDH1,synonymous_variant,p.=,ENST00000422392,;RP11-354M1.2,downstream_gene_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,downstream_gene_variant,,ENST00000564676,;CDH1,downstream_gene_variant,,ENST00000564745,;CDH1,synonymous_variant,p.=,ENST00000566612,;CDH1,synonymous_variant,p.=,ENST00000566510,;CDH1,3_prime_UTR_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000567320,;CDH1,upstream_gene_variant,,ENST00000565810,;					1		LOW	900/2649		CADH1_HUMAN			Transcript			.	ENSP00000261769		CCDS10869.1			1	
ZBTB40	0	LGGM	GRCh37	1	22817067	22817067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	3	.	.	ENST00000404138.1:c.626C>A	p.Thr209Lys	p.T209K	ENST00000404138	NM_001083621.1	209	aCa/aAa	0	1		UPI0000204652	0	NA	ENST00000375647		ENSG00000184677	29045		43	1.39		HGNC	p.T209K		ZBTB40		SNV							ENST00000404138	protein_coding	getma.org/?cm=var&var=hg19,1,22817067,C,A&fts=all		hmmpanther:PTHR24394,hmmpanther:PTHR24394:SF0,Low_complexity_(Seg):seg		T/K		A	low	833/8685		getma.org/?cm=msa&ty=f&p=ZBT40_HUMAN&rb=117&re=316&var=T209K	tolerated(0.93)	B1AKC8_HUMAN				ZBTB40,missense_variant,p.Thr209Lys,ENST00000404138,NM_001083621.1;ZBTB40,missense_variant,p.Thr209Lys,ENST00000375647,NM_014870.3;ZBTB40,missense_variant,p.Thr209Lys,ENST00000374651,;ZBTB40,missense_variant,p.Thr209Lys,ENST00000400239,;							MODERATE	626/3720	T209K	ZBT40_HUMAN			Transcript		benign(0.003)	.	ENSP00000364798		CCDS224.1			1	
KIAA1045	0	LGGM	GRCh37	9	34972492	34972492	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	30	3	.	.	ENST00000242315.3:c.528G>A	p.Met176Ile	p.M176I	ENST00000242315	NM_015297.1	176	atG/atA	0	1	1	UPI00001C1EB1	0	getma.org/pdb.php?prot=K1045_HUMAN&from=1&to=200&var=M176I	ENST00000242315		ENSG00000122733	29180		33	1.39		HGNC	p.M15I		KIAA1045		SNV							ENST00000476115	protein_coding	getma.org/?cm=var&var=hg19,9,34972492,G,A&fts=all		hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF556,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Superfamily_domains:SSF57903		M/I		A	low	610/5718		getma.org/?cm=msa&ty=f&p=K1045_HUMAN&rb=1&re=200&var=M176I	tolerated(0.14)				YES	KIAA1045,missense_variant,p.Met176Ile,ENST00000242315,NM_015297.1;KIAA1045,missense_variant,p.Met176Ile,ENST00000544237,;KIAA1045,non_coding_transcript_exon_variant,,ENST00000476115,;KIAA1045,downstream_gene_variant,,ENST00000486477,;							MODERATE	528/1203	M176I	K1045_HUMAN			Transcript		benign(0.024)	.	ENSP00000242315		CCDS43796.1			1	
ZNF492	0	LGGM	GRCh37	19	22847048	22847048	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	32	3	.	.	ENST00000456783.2:c.577G>T	p.Gly193Ter	p.G193*	ENST00000456783	NM_020855.2	193	Gga/Tga	0	1	1	UPI00001C200B	0	NA	ENST00000456783		ENSG00000229676	23707		35	0		HGNC	p.G193X		ZNF492		SNV							ENST00000456783	protein_coding	getma.org/?cm=var&var=hg19,19,22847048,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/*		T	NA	821/4245		NA					YES	ZNF492,stop_gained,p.Gly193Ter,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;							HIGH	577/1596	G193*	ZN492_HUMAN			Transcript			.	ENSP00000413660		CCDS46032.1			1	
RHOBTB2	0	LGGM	GRCh37	8	22873231	22873231	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	11	3	.	.	ENST00000519685.1:c.2007C>A	p.Pro669=	p.P669=	ENST00000519685	NM_001160036.1	669	ccC/ccA	0	1		UPI000013342C	0		ENST00000251822		ENSG00000008853	18756		14			HGNC	p.P647P		RHOBTB2		SNV							ENST00000251822	protein_coding					P		A		2478/5451								RHOBTB2,synonymous_variant,p.=,ENST00000251822,NM_015178.2;RHOBTB2,synonymous_variant,p.=,ENST00000522948,NM_001160037.1;RHOBTB2,synonymous_variant,p.=,ENST00000519685,NM_001160036.1;TNFRSF10B,downstream_gene_variant,,ENST00000276431,NM_147187.2,NM_003842.4;RP11-875O11.1,intron_variant,,ENST00000502083,;TNFRSF10B,downstream_gene_variant,,ENST00000523752,;							LOW	1941/2184		RHBT2_HUMAN			Transcript			.	ENSP00000251822		CCDS6034.1			1	
FBXO33	0	LGGM	GRCh37	14	39871049	39871049	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	30	3	.	.	ENST00000298097.7:c.727G>T	p.Glu243Ter	p.E243*	ENST00000298097	NM_203301.3	243	Gaa/Taa	0	1	1	UPI00001605E2	0	NA	ENST00000298097		ENSG00000165355	19833		33	0		HGNC	p.E243X		FBXO33		SNV							ENST00000298097	protein_coding	getma.org/?cm=var&var=hg19,14,39871049,C,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR20933		E/*		A	NA	1065/3853		NA		B4DFK5_HUMAN			YES	FBXO33,stop_gained,p.Glu243Ter,ENST00000298097,NM_203301.3;FBXO33,intron_variant,,ENST00000554190,;							HIGH	727/1668	E243*	FBX33_HUMAN			Transcript			.	ENSP00000298097		CCDS9677.1			1	
SLC26A6	0	LGGM	GRCh37	3	48669698	48669698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	3	.	.	ENST00000395550.2:c.565G>T	p.Val189Phe	p.V189F	ENST00000395550		189	Gtc/Ttc	0	1	1	UPI0000135460	0	NA	ENST00000395550		ENSG00000225697	14472		24	0.525		HGNC	p.V189F		SLC26A6		SNV							ENST00000395550	protein_coding	getma.org/?cm=var&var=hg19,3,48669698,C,A&fts=all		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF18,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix		V/F		A	neutral	613/2589		getma.org/?cm=msa&ty=f&p=S26A6_HUMAN&rb=159&re=197&var=V189F	tolerated(0.48)	Q9Y3Y1_HUMAN			YES	SLC26A6,missense_variant,p.Val168Phe,ENST00000358747,NM_001040454.1;SLC26A6,missense_variant,p.Val189Phe,ENST00000420764,NM_134263.2,NM_022911.2;SLC26A6,missense_variant,p.Val189Phe,ENST00000395550,;SLC26A6,missense_variant,p.Val189Phe,ENST00000383733,NM_134426.2;SLC26A6,missense_variant,p.Val35Phe,ENST00000421649,;SLC26A6,intron_variant,,ENST00000455886,NM_001281732.1;SLC26A6,intron_variant,,ENST00000337000,NM_001281733.1;SLC26A6,intron_variant,,ENST00000431739,;SLC26A6,intron_variant,,ENST00000426599,;CELSR3,downstream_gene_variant,,ENST00000544264,;CELSR3,downstream_gene_variant,,ENST00000164024,NM_001407.2;SLC26A6,non_coding_transcript_exon_variant,,ENST00000482282,;SLC26A6,missense_variant,p.Val25Phe,ENST00000444531,;SLC26A6,missense_variant,p.Cys8Phe,ENST00000414944,;SLC26A6,3_prime_UTR_variant,,ENST00000307364,;SLC26A6,3_prime_UTR_variant,,ENST00000431213,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000489483,;SLC26A6,non_coding_transcript_exon_variant,,ENST00000480524,;CELSR3,downstream_gene_variant,,ENST00000498057,;CELSR3,downstream_gene_variant,,ENST00000461362,;SLC26A6,upstream_gene_variant,,ENST00000496469,;SLC26A6,upstream_gene_variant,,ENST00000462009,;SLC26A6,upstream_gene_variant,,ENST00000466257,;SLC26A6,upstream_gene_variant,,ENST00000485361,;SLC26A6,upstream_gene_variant,,ENST00000469693,;SLC26A6,upstream_gene_variant,,ENST00000494717,;							MODERATE	565/2280	V189F	S26A6_HUMAN			Transcript		benign(0.003)	.	ENSP00000378920		CCDS43087.1			1	
C12orf55	0	LGGM	GRCh37	12	97078912	97078912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	38	3	.	.	ENST00000524981.4:c.5910C>A	p.Asn1970Lys	p.N1970K	ENST00000524981		1970	aaC/aaA	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		41	1.245		HGNC	p.N1970K		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97078912,C,A&fts=all				N/K		A	low	5933/9766		getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1780&re=1979&var=N1970K	deleterious(0.03)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Asn1970Lys,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	5910/9291	N1970K				Transcript		benign(0.001)	.	ENSP00000431759					1	
NDUFA2	0	LGGM	GRCh37	5	140026923	140026923	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	3	.	.	ENST00000252102.4:c.126G>T	p.Val42=	p.V42=	ENST00000252102	NM_001185012.1	42	gtG/gtT	0	1	1	UPI000013CD3E	0		ENST00000252102		ENSG00000131495	7685		25			HGNC	p.V42V		NDUFA2		SNV			1				ENST00000512088	protein_coding			hmmpanther:PTHR12878,Gene3D:3.40.30.10,Pfam_domain:PF05047,SMART_domains:SM00916,PIRSF_domain:PIRSF005822,Superfamily_domains:SSF52833		V		A		328/804							YES	NDUFA2,synonymous_variant,p.=,ENST00000252102,NM_001185012.1,NM_002488.4;NDUFA2,synonymous_variant,p.=,ENST00000512088,;IK,intron_variant,,ENST00000513256,;IK,upstream_gene_variant,,ENST00000417647,NM_006083.3;TMCO6,downstream_gene_variant,,ENST00000394671,NM_018502.3;TMCO6,downstream_gene_variant,,ENST00000252100,;TMCO6,downstream_gene_variant,,ENST00000537378,;TMCO6,downstream_gene_variant,,ENST00000511410,;IK,upstream_gene_variant,,ENST00000508301,;IK,upstream_gene_variant,,ENST00000502899,;IK,upstream_gene_variant,,ENST00000507593,;MIR3655,upstream_gene_variant,,ENST00000581765,;NDUFA2,upstream_gene_variant,,ENST00000510680,;IK,upstream_gene_variant,,ENST00000523672,;NDUFA2,non_coding_transcript_exon_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000510336,;TMCO6,downstream_gene_variant,,ENST00000515265,;TMCO6,downstream_gene_variant,,ENST00000509605,;TMCO6,downstream_gene_variant,,ENST00000514449,;TMCO6,downstream_gene_variant,,ENST00000515653,;TMCO6,downstream_gene_variant,,ENST00000504069,;IK,upstream_gene_variant,,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000509269,;IK,upstream_gene_variant,,ENST00000512827,;							LOW	126/300		NDUA2_HUMAN			Transcript			.	ENSP00000252102		CCDS4234.1			1	
TM9SF1	0	LGGM	GRCh37	14	24680665	24680665	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	20	3	.	.	ENST00000347519.6:c.444C>A	p.Thr148=	p.T148=	ENST00000347519	NM_014169.3	148	acC/acA	0	1		UPI0001F77BE7	0		ENST00000530611		ENSG00000254692	11864		23			Uniprot_gn	p.T115T		TM9SF1		SNV							ENST00000533011	protein_coding			Pfam_domain:PF03357		T		T		349/2740				E9PSI1_HUMAN,G3V1B9_HUMAN,E9PS99_HUMAN,E9PQY7_HUMAN,E9PNW2_HUMAN,E9PL78_HUMAN,E9PJC4_HUMAN			YES	TM9SF1,synonymous_variant,p.=,ENST00000530611,;TM9SF1,synonymous_variant,p.=,ENST00000556387,;CHMP4A,synonymous_variant,p.=,ENST00000347519,NM_014169.3;CHMP4A,synonymous_variant,p.=,ENST00000609024,;CHMP4A,synonymous_variant,p.=,ENST00000533011,;CHMP4A,5_prime_UTR_variant,,ENST00000530996,;TSSK4,downstream_gene_variant,,ENST00000339917,NM_001184739.1,NM_174944.3;TSSK4,downstream_gene_variant,,ENST00000287913,;TSSK4,downstream_gene_variant,,ENST00000556621,;MDP1,downstream_gene_variant,,ENST00000288087,NM_138476.3,NM_001199822.1;TSSK4,downstream_gene_variant,,ENST00000553766,;TSSK4,downstream_gene_variant,,ENST00000555092,;NEDD8-MDP1,downstream_gene_variant,,ENST00000534348,NM_001199823.1;MDP1,downstream_gene_variant,,ENST00000396833,NM_001199821.1;TSSK4,downstream_gene_variant,,ENST00000428351,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000542700,;NEDD8-MDP1,downstream_gene_variant,,ENST00000604306,;CHMP4A,downstream_gene_variant,,ENST00000531158,;MDP1,downstream_gene_variant,,ENST00000532557,;MDP1,downstream_gene_variant,,ENST00000525696,;CHMP4A,synonymous_variant,p.=,ENST00000533523,;CHMP4A,3_prime_UTR_variant,,ENST00000534106,;AL136419.6,non_coding_transcript_exon_variant,,ENST00000565988,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000552620,;CHMP4A,non_coding_transcript_exon_variant,,ENST00000527154,;AL136419.6,downstream_gene_variant,,ENST00000528804,;TSSK4,downstream_gene_variant,,ENST00000554420,;MDP1,downstream_gene_variant,,ENST00000530222,;NEDD8-MDP1,downstream_gene_variant,,ENST00000605847,;MDP1,downstream_gene_variant,,ENST00000466422,;MDP1,downstream_gene_variant,,ENST00000532742,;MDP1,downstream_gene_variant,,ENST00000533536,;MDP1,downstream_gene_variant,,ENST00000528849,;MDP1,downstream_gene_variant,,ENST00000531553,;NEDD8-MDP1,downstream_gene_variant,,ENST00000530579,;CHMP4A,upstream_gene_variant,,ENST00000524955,;							LOW	315/2448					Transcript			.	ENSP00000433967					1	
FRY	0	LGGM	GRCh37	13	32691563	32691563	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	46	3	.	.	ENST00000380250.3:c.417G>T	p.Glu139Asp	p.E139D	ENST00000380250	NM_023037.2	139	gaG/gaT	0	1	1	UPI000046FD40	0	NA	ENST00000380250		ENSG00000073910	20367		49	1.15		HGNC	p.E136D		FRY		SNV							ENST00000436046	protein_coding	getma.org/?cm=var&var=hg19,13,32691563,G,T&fts=all		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29		E/D		T	low	913/10735		getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=1&re=163&var=E139D	tolerated(0.09)	Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,missense_variant,p.Glu139Asp,ENST00000380250,NM_023037.2;FRY,missense_variant,p.Glu136Asp,ENST00000436046,;							MODERATE	417/9042	E139D	FRY_HUMAN			Transcript		benign(0.008)	.	ENSP00000369600		CCDS41875.1			1	
PRDX4	0	LGGM	GRCh37	X	23693146	23693146	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	3	.	.	ENST00000379341.4:c.399C>A	p.Asp133Glu	p.D133E	ENST00000379341	NM_006406.1	133	gaC/gaA	0	1	1	UPI00001314E8	0	getma.org/pdb.php?prot=PRDX4_HUMAN&from=81&to=214&var=D133E	ENST00000379341		ENSG00000123131	17169		32	1.305		HGNC	p.D133E		PRDX4		SNV							ENST00000379341	protein_coding	getma.org/?cm=var&var=hg19,X,23693146,C,A&fts=all		Superfamily_domains:SSF52833,Pfam_domain:PF00578,Gene3D:3.40.30.10,hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF101,PROSITE_profiles:PS51352		D/E		A	low	524/1005		getma.org/?cm=msa&ty=f&p=PRDX4_HUMAN&rb=81&re=214&var=D133E	tolerated(0.17)				YES	PRDX4,missense_variant,p.Asp133Glu,ENST00000379341,NM_006406.1;PRDX4,missense_variant,p.Asp133Glu,ENST00000379331,;PRDX4,missense_variant,p.Asp119Glu,ENST00000379349,;PRDX4,missense_variant,p.Asp11Glu,ENST00000439422,;PRDX4,non_coding_transcript_exon_variant,,ENST00000495599,;							MODERATE	399/816	D133E	PRDX4_HUMAN			Transcript		benign(0.168)	.	ENSP00000368646		CCDS14206.1			1	
PTER	0	LGGM	GRCh37	10	16526794	16526794	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	25	3	.	.	ENST00000378000.1:c.411C>A	p.Thr137=	p.T137=	ENST00000378000	NM_001001484.2	137	acC/acA	0	1	1	UPI00000492E9	0		ENST00000378000		ENSG00000165983	9590		28			HGNC	p.T137T		PTER		SNV							ENST00000535784	protein_coding			Gene3D:3.20.20.140,Pfam_domain:PF02126,PROSITE_profiles:PS51347,hmmpanther:PTHR10819,Superfamily_domains:SSF51556		T		A		657/3777							YES	PTER,synonymous_variant,p.=,ENST00000378000,NM_001001484.2,NM_001261838.1,NM_030664.4;PTER,synonymous_variant,p.=,ENST00000298942,NM_001261838.1;PTER,synonymous_variant,p.=,ENST00000423462,NM_001261837.1;PTER,synonymous_variant,p.=,ENST00000535784,NM_001261836.1;PTER,non_coding_transcript_exon_variant,,ENST00000485788,;							LOW	411/1050		PTER_HUMAN			Transcript			.	ENSP00000367239		CCDS7111.1			1	
FBN1	0	LGGM	GRCh37	15	48892399	48892399	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000316623.5:c.379G>T	p.Gly127Cys	p.G127C	ENST00000316623	NM_000138.4	127	Ggt/Tgt	0	1	1	UPI0000163B0B	0	NA	ENST00000316623		ENSG00000166147	3603		36	3.605		HGNC	p.G127C		FBN1		SNV			1				ENST00000316623	protein_coding	getma.org/?cm=var&var=hg19,15,48892399,C,A&fts=all		Gene3D:2gy5A03,PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,SMART_domains:SM00181		G/C		A	high	835/11756		getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=115&re=146&var=G127C		Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,missense_variant,p.Gly127Cys,ENST00000316623,NM_000138.4;FBN1,missense_variant,p.Gly127Cys,ENST00000537463,;							MODERATE	379/8616	G127C	FBN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325527		CCDS32232.1			1	
OTUD4	0	LGGM	GRCh37	4	146064552	146064552	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	26	3	.	.	ENST00000454497.2:c.1453T>A	p.Ser485Thr	p.S485T	ENST00000454497	NM_001102653.1	485	Tca/Aca	0	1		UPI0000E825C1	0	NA	ENST00000447906		ENSG00000164164	24949		29	0.805		HGNC	p.S485T		OTUD4		SNV							ENST00000454497	protein_coding	getma.org/?cm=var&var=hg19,4,146064552,A,T&fts=all		hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF9		S/T		T	low	1836/3829		getma.org/?cm=msa&ty=f&p=OTUD4_HUMAN&rb=479&re=1111&var=S549T	tolerated(0.5)	G3V0I6_HUMAN,D6RA27_HUMAN				OTUD4,missense_variant,p.Ser485Thr,ENST00000454497,NM_001102653.1;OTUD4,missense_variant,p.Ser550Thr,ENST00000447906,;OTUD4,downstream_gene_variant,,ENST00000514973,;OTUD4,non_coding_transcript_exon_variant,,ENST00000455611,;OTUD4,downstream_gene_variant,,ENST00000509517,;							MODERATE	1648/3345	S549T				Transcript		benign(0.023)	.	ENSP00000395487					1	
RALGAPA1	0	LGGM	GRCh37	14	36143874	36143874	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	30	3	.	.	ENST00000307138.6:c.3148G>T	p.Gly1050Ter	p.G1050*	ENST00000307138	NM_194301.2	1050	Gga/Tga	0	1		UPI00003B5C50	0	NA	ENST00000389698		ENSG00000174373	17770		33	0		HGNC	p.G1063X		RALGAPA1		SNV							ENST00000382366	protein_coding	getma.org/?cm=var&var=hg19,14,36143874,C,A&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3		G/*		A	NA	3539/7864		NA		Q9H984_HUMAN				RALGAPA1,stop_gained,p.Gly1097Ter,ENST00000258840,NM_001283044.1;RALGAPA1,stop_gained,p.Gly1050Ter,ENST00000307138,NM_194301.2;RALGAPA1,stop_gained,p.Gly1050Ter,ENST00000389698,NM_014990.1;RALGAPA1,stop_gained,p.Gly1063Ter,ENST00000382366,NM_001283043.1;RALGAPA1,stop_gained,p.Gly1097Ter,ENST00000553892,;RALGAPA1,downstream_gene_variant,,ENST00000554652,;							HIGH	3148/6111	G1050*	RGPA1_HUMAN			Transcript			.	ENSP00000374348		CCDS32065.1			1	
FMNL1	0	LGGM	GRCh37	17	43313583	43313583	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	9	3	.	.	ENST00000331495.3:c.695T>C	p.Met232Thr	p.M232T	ENST00000331495	NM_005892.3	232	aTg/aCg	0	1	1	UPI0000246EE9	0	NA	ENST00000331495		ENSG00000184922	1212		12	1.89		HGNC	p.M232T	rs769880915	FMNL1	6.17E-05	SNV							ENST00000331495	protein_coding	getma.org/?cm=var&var=hg19,17,43313583,T,C&fts=all		Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Superfamily_domains:SSF48371		M/T		C	low	1031/4101		getma.org/?cm=msa&ty=f&p=FMNL_HUMAN&rb=202&re=281&var=M232T	deleterious(0.03)				YES	FMNL1,missense_variant,p.Met232Thr,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Met232Thr,ENST00000328118,;FMNL1,upstream_gene_variant,,ENST00000587489,;CTD-2020K17.3,downstream_gene_variant,,ENST00000587534,;CTD-2020K17.3,downstream_gene_variant,,ENST00000393507,;FMNL1,non_coding_transcript_exon_variant,,ENST00000592006,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;FMNL1,non_coding_transcript_exon_variant,,ENST00000591434,;FMNL1,downstream_gene_variant,,ENST00000585852,;FMNL1,downstream_gene_variant,,ENST00000592527,;							MODERATE	695/3303	M232T	FMNL_HUMAN			Transcript		unknown(0)	.	ENSP00000329219	8.24E-06	CCDS11497.1			1	
IDH3B	0	LGGM	GRCh37	20	2641413	2641413	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	3	.	.	ENST00000380843.4:c.461G>T	p.Arg154Leu	p.R154L	ENST00000380843	NM_006899.3	154	cGg/cTg	0	1	1	UPI000013CBC6	0	getma.org/pdb.php?prot=IDH3B_HUMAN&from=50&to=376&var=R154L	ENST00000380843		ENSG00000101365	5385		37	2.125		HGNC	p.R154L		IDH3B		SNV			1				ENST00000380843	protein_coding	getma.org/?cm=var&var=hg19,20,2641413,C,A&fts=all		Gene3D:3.40.718.10,Pfam_domain:PF00180,hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF39,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00175		R/L		A	medium	492/1545		getma.org/?cm=msa&ty=f&p=IDH3B_HUMAN&rb=50&re=376&var=R154L	deleterious(0)	Q9UIC5_HUMAN,B4DU38_HUMAN			YES	IDH3B,missense_variant,p.Arg154Leu,ENST00000380843,NM_006899.3;IDH3B,missense_variant,p.Arg154Leu,ENST00000380851,NM_001258384.1,NM_174855.2;NOP56,downstream_gene_variant,,ENST00000329276,NM_006392.3;NOP56,downstream_gene_variant,,ENST00000415272,;SNORD86,downstream_gene_variant,,ENST00000391196,NR_004399.1;SNORD57,downstream_gene_variant,,ENST00000448188,NR_002738.1;SNORD56,downstream_gene_variant,,ENST00000413522,NR_002739.1;RP4-686C3.7,upstream_gene_variant,,ENST00000418739,;IDH3B,non_coding_transcript_exon_variant,,ENST00000488299,;IDH3B,non_coding_transcript_exon_variant,,ENST00000474315,;IDH3B,non_coding_transcript_exon_variant,,ENST00000462967,;IDH3B,non_coding_transcript_exon_variant,,ENST00000491065,;NOP56,downstream_gene_variant,,ENST00000492135,;NOP56,downstream_gene_variant,,ENST00000466447,;NOP56,downstream_gene_variant,,ENST00000484998,;IDH3B,upstream_gene_variant,,ENST00000492240,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000462630,;NOP56,downstream_gene_variant,,ENST00000467857,;IDH3B,upstream_gene_variant,,ENST00000466494,;NOP56,downstream_gene_variant,,ENST00000480447,;NOP56,downstream_gene_variant,,ENST00000490753,;IDH3B,upstream_gene_variant,,ENST00000477689,;NOP56,downstream_gene_variant,,ENST00000471023,;IDH3B,upstream_gene_variant,,ENST00000466999,;IDH3B,upstream_gene_variant,,ENST00000479376,;NOP56,downstream_gene_variant,,ENST00000467196,;							MODERATE	461/1158	R154L	IDH3B_HUMAN			Transcript		benign(0.331)	.	ENSP00000370223		CCDS13032.1			1	
TSSC4	0	LGGM	GRCh37	11	2424433	2424433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	18	3	.	.	ENST00000333256.6:c.570C>A	p.Ser190Arg	p.S190R	ENST00000333256		190	agC/agA	0	1	1	UPI0000161FA5	0	NA	ENST00000333256		ENSG00000184281	12386		21	1.085		HGNC	p.S126R		TSSC4		SNV							ENST00000440813	protein_coding	getma.org/?cm=var&var=hg19,11,2424433,C,A&fts=all		Pfam_domain:PF15264,hmmpanther:PTHR13445,hmmpanther:PTHR13445:SF3		S/R		A	low	1013/1686		getma.org/?cm=msa&ty=f&p=TSSC4_HUMAN&rb=1&re=326&var=S190R	tolerated(0.08)	E9PME3_HUMAN,E9PL88_HUMAN,C9JHT9_HUMAN,C9JDU0_HUMAN			YES	TSSC4,missense_variant,p.Ser190Arg,ENST00000333256,;TSSC4,missense_variant,p.Ser126Arg,ENST00000380996,;TSSC4,missense_variant,p.Ser190Arg,ENST00000451491,NM_005706.2;TSSC4,missense_variant,p.Ser190Arg,ENST00000437110,;TSSC4,missense_variant,p.Ser190Arg,ENST00000496468,;TSSC4,missense_variant,p.Ser126Arg,ENST00000440813,;TSSC4,intron_variant,,ENST00000380992,;TRPM5,downstream_gene_variant,,ENST00000452833,;TRPM5,downstream_gene_variant,,ENST00000155858,NM_014555.3;TRPM5,downstream_gene_variant,,ENST00000533881,;TRPM5,downstream_gene_variant,,ENST00000533060,;TRPM5,downstream_gene_variant,,ENST00000528453,;TSSC4,downstream_gene_variant,,ENST00000485682,;TSSC4,downstream_gene_variant,,ENST00000435795,;AC124057.5,upstream_gene_variant,,ENST00000433035,;TSSC4,intron_variant,,ENST00000467308,;							MODERATE	570/990	S190R	TSSC4_HUMAN			Transcript		benign(0.032)	.	ENSP00000331087		CCDS7735.1			1	
PDGFRB	0	LGGM	GRCh37	5	149499082	149499082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	3	.	.	ENST00000261799.4:c.2746G>T	p.Ala916Ser	p.A916S	ENST00000261799	NM_002609.3	916	Gcc/Tcc	0	1	1	UPI0000131791	0	getma.org/pdb.php?prot=PGFRB_HUMAN&from=600&to=958&var=A916S	ENST00000261799		ENSG00000113721	8804		37	0.565		HGNC	p.A916S		PDGFRB		SNV			1				ENST00000261799	protein_coding	getma.org/?cm=var&var=hg19,5,149499082,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF53,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,Superfamily_domains:SSF56112		A/S		A	neutral	3216/5717		getma.org/?cm=msa&ty=f&p=PGFRB_HUMAN&rb=600&re=958&var=A916S	tolerated(0.08)	E5RJ14_HUMAN,E5RII0_HUMAN			YES	PDGFRB,missense_variant,p.Ala916Ser,ENST00000261799,NM_002609.3;PDGFRB,non_coding_transcript_exon_variant,,ENST00000519575,;PDGFRB,upstream_gene_variant,,ENST00000520851,;PDGFRB,downstream_gene_variant,,ENST00000521723,;PDGFRB,3_prime_UTR_variant,,ENST00000520579,;PDGFRB,downstream_gene_variant,,ENST00000520229,;							MODERATE	2746/3321	A916S	PGFRB_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000261799		CCDS4303.1			1	
WNK2	0	LGGM	GRCh37	9	95997148	95997148	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	46	3	.	.	ENST00000297954.4:c.1134C>A	p.Asp378Glu	p.D378E	ENST00000297954	NM_001282394.1	378	gaC/gaA	0	1	1	UPI0000236D76	0	getma.org/pdb.php?prot=WNK2_HUMAN&from=195&to=453&var=D378E	ENST00000297954		ENSG00000165238	14542		49	3.68		HGNC	p.D378E		WNK2		SNV							ENST00000395477	protein_coding	getma.org/?cm=var&var=hg19,9,95997148,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/E		A	high	1134/7138		getma.org/?cm=msa&ty=f&p=WNK2_HUMAN&rb=195&re=453&var=D378E					YES	WNK2,missense_variant,p.Asp374Glu,ENST00000432730,;WNK2,missense_variant,p.Asp378Glu,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Asp378Glu,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Asp364Glu,ENST00000395475,;WNK2,missense_variant,p.Asp378Glu,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000349097,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000411624,;							MODERATE	1134/6894	D378E	WNK2_HUMAN			Transcript		unknown(0)	.	ENSP00000297954					1	
CRAT	0	LGGM	GRCh37	9	131857813	131857813	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	7	3	.	.	ENST00000318080.2:c.1744G>T	p.Glu582Ter	p.E582*	ENST00000318080	NM_001257363.1	582	Gag/Tag	0	1	1	UPI000014021A	0	NA	ENST00000318080		ENSG00000095321	2342		10	0		HGNC	p.E582X		CRAT		SNV							ENST00000318080	protein_coding	getma.org/?cm=var&var=hg19,9,131857813,C,A&fts=all		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF50,Superfamily_domains:SSF52777		E/*		A	NA	2039/2763		NA					YES	CRAT,stop_gained,p.Glu582Ter,ENST00000318080,NM_001257363.1,NM_000755.3;CRAT,stop_gained,p.Glu157Ter,ENST00000455396,;RP11-247A12.1,upstream_gene_variant,,ENST00000434250,;CRAT,non_coding_transcript_exon_variant,,ENST00000467343,;CRAT,3_prime_UTR_variant,,ENST00000458362,;							HIGH	1744/1881	E582*	CACP_HUMAN			Transcript			.	ENSP00000315013		CCDS6919.1			1	
FAM13C	0	LGGM	GRCh37	10	61029754	61029754	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	25	3	.	.	ENST00000373868.2:c.708G>A	p.Leu236=	p.L236=	ENST00000373868	NM_198215.3	236	ctG/ctA	0	1	1	UPI00001AEA18	0		ENST00000373868		ENSG00000148541	19371		28			HGNC	p.L257L		FAM13C		SNV							ENST00000277705	protein_coding			hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904		L		T		796/3327				D6RIX4_HUMAN			YES	FAM13C,synonymous_variant,p.=,ENST00000373867,NM_001166698.1;FAM13C,synonymous_variant,p.=,ENST00000277705,;FAM13C,synonymous_variant,p.=,ENST00000442566,;FAM13C,synonymous_variant,p.=,ENST00000373868,NM_198215.3;FAM13C,synonymous_variant,p.=,ENST00000419214,NM_001001971.2;FAM13C,synonymous_variant,p.=,ENST00000468840,NM_001143773.1;FAM13C,synonymous_variant,p.=,ENST00000435852,;FAM13C,synonymous_variant,p.=,ENST00000422313,;FAM13C,synonymous_variant,p.=,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,;							LOW	708/1758		FA13C_HUMAN			Transcript			.	ENSP00000362975		CCDS7255.1			1	
KDM4C	0	LGGM	GRCh37	9	6986407	6986407	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	30	3	.	.	ENST00000381309.3:c.1418C>A	p.Ala473Glu	p.A473E	ENST00000381309	NM_015061.3	473	gCa/gAa	0	1	1	UPI0000367602	0	NA	ENST00000381309		ENSG00000107077	17071		33	0.49		HGNC	p.A473E		KDM4C		SNV							ENST00000543771	protein_coding	getma.org/?cm=var&var=hg19,9,6986407,C,A&fts=all		hmmpanther:PTHR10694:SF32,hmmpanther:PTHR10694		A/E		A	neutral	1983/4655		getma.org/?cm=msa&ty=f&p=KDM4C_HUMAN&rb=294&re=493&var=A473E	tolerated(0.69)	C9J879_HUMAN			YES	KDM4C,missense_variant,p.Ala473Glu,ENST00000381309,NM_015061.3;KDM4C,missense_variant,p.Ala473Glu,ENST00000381306,NM_001146694.1;KDM4C,missense_variant,p.Ala473Glu,ENST00000543771,NM_001146695.1;KDM4C,missense_variant,p.Ala495Glu,ENST00000535193,NM_001146696.1;KDM4C,missense_variant,p.Ala160Glu,ENST00000428870,;KDM4C,missense_variant,p.Ala292Glu,ENST00000442236,;KDM4C,missense_variant,p.Ala292Glu,ENST00000536108,;KDM4C,non_coding_transcript_exon_variant,,ENST00000494570,;KDM4C,3_prime_UTR_variant,,ENST00000438023,;							MODERATE	1418/3171	A473E	KDM4C_HUMAN			Transcript		benign(0.075)	.	ENSP00000370710		CCDS6471.1			1	
ANKDD1A	0	LGGM	GRCh37	15	65242171	65242171	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000380230.3:c.1461C>A	p.Ala487=	p.A487=	ENST00000380230	NM_182703.3	487	gcC/gcA	0	1	1	UPI0000D79C72	0		ENST00000380230		ENSG00000166839	28002		36			HGNC	p.A487A		ANKDD1A		SNV							ENST00000395720	protein_coding			Superfamily_domains:SSF47986,Pfam_domain:PF00531,Gene3D:1.10.533.10,hmmpanther:PTHR24125,hmmpanther:PTHR24125:SF0,PROSITE_profiles:PS50017		A		A		1490/3113				Q6PI29_HUMAN			YES	ANKDD1A,synonymous_variant,p.=,ENST00000380230,NM_182703.3;ANKDD1A,synonymous_variant,p.=,ENST00000357698,;ANKDD1A,synonymous_variant,p.=,ENST00000395720,;ANKDD1A,synonymous_variant,p.=,ENST00000395723,;ANKDD1A,synonymous_variant,p.=,ENST00000487867,;							LOW	1461/1569		AKD1A_HUMAN			Transcript			.	ENSP00000369579		CCDS10197.2			1	
APBA2	0	LGGM	GRCh37	15	29346831	29346831	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	12	3	.	.	ENST00000558402.1:c.744C>A	p.Ala248=	p.A248=	ENST00000558402		248	gcC/gcA	0	1		UPI0000046798	0		ENST00000558259		ENSG00000034053	579		15			HGNC	p.A248A		APBA2		SNV							ENST00000558259	protein_coding			hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12		A		A		951/3635				H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN				APBA2,synonymous_variant,p.=,ENST00000558402,;APBA2,synonymous_variant,p.=,ENST00000558259,NM_005503.3;APBA2,synonymous_variant,p.=,ENST00000411764,NM_001130414.1;APBA2,synonymous_variant,p.=,ENST00000558330,;APBA2,synonymous_variant,p.=,ENST00000561069,;APBA2,synonymous_variant,p.=,ENST00000558358,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;							LOW	744/2250		APBA2_HUMAN			Transcript			.	ENSP00000454171		CCDS10022.1			1	
ADCY4	0	LGGM	GRCh37	14	24788612	24788612	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	32	3	.	.	ENST00000310677.4:c.2764G>T	p.Glu922Ter	p.E922*	ENST00000310677	NM_001198568.1	922	Gag/Tag	0	1	1	UPI00000398CC	0	NA	ENST00000310677		ENSG00000129467	235		35	0		HGNC	p.E922X		ADCY4		SNV							ENST00000310677	protein_coding	getma.org/?cm=var&var=hg19,14,24788612,C,A&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF286,SMART_domains:SM00044,Superfamily_domains:SSF55073		E/*		A	NA	2878/3415		NA		Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN			YES	ADCY4,stop_gained,p.Glu922Ter,ENST00000310677,NM_001198568.1,NM_139247.3,NM_001198592.1;ADCY4,stop_gained,p.Glu922Ter,ENST00000554068,;ADCY4,stop_gained,p.Glu922Ter,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,,ENST00000560635,;ADCY4,non_coding_transcript_exon_variant,,ENST00000561200,;ADCY4,downstream_gene_variant,,ENST00000554936,;ADCY4,upstream_gene_variant,,ENST00000555684,;							HIGH	2764/3234	E922*	ADCY4_HUMAN			Transcript			.	ENSP00000312126		CCDS9627.1			1	
LYSMD3	0	LGGM	GRCh37	5	89820998	89820998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	35	3	.	.	ENST00000315948.6:c.109G>T	p.Ala37Ser	p.A37S	ENST00000315948	NM_198273.1	37	Gct/Tct	0	1	1	UPI000015FBC3	0	NA	ENST00000315948		ENSG00000176018	26969		38	0.205		HGNC	p.A37S		LYSMD3		SNV							ENST00000509384	protein_coding	getma.org/?cm=var&var=hg19,5,89820998,C,A&fts=all		hmmpanther:PTHR20932:SF5,hmmpanther:PTHR20932		A/S		A	neutral	254/4259		getma.org/?cm=msa&ty=f&p=LYSM3_HUMAN&rb=1&re=67&var=A37S	tolerated(0.42)	A8K613_HUMAN			YES	LYSMD3,missense_variant,p.Ala37Ser,ENST00000315948,NM_198273.1;LYSMD3,missense_variant,p.Ala37Ser,ENST00000500869,;LYSMD3,missense_variant,p.Ala37Ser,ENST00000509384,NM_001286812.1;GPR98,upstream_gene_variant,,ENST00000508842,;LYSMD3,missense_variant,p.Ala37Ser,ENST00000453259,;							MODERATE	109/921	A37S	LYSM3_HUMAN			Transcript		benign(0.008)	.	ENSP00000314518		CCDS43338.1			1	
GPC1	0	LGGM	GRCh37	2	241404909	241404909	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	17	3	.	.	ENST00000264039.2:c.1288G>T	p.Gly430Cys	p.G430C	ENST00000264039	NM_002081.2	430	Ggt/Tgt	0	1	1	UPI000013D4AA	0	getma.org/pdb.php?prot=GPC1_HUMAN&from=8&to=557&var=G430C	ENST00000264039		ENSG00000063660	4449		20	3.005		HGNC	p.G430C		GPC1		SNV			1				ENST00000264039	protein_coding	getma.org/?cm=var&var=hg19,2,241404909,G,T&fts=all		Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF8		G/C		T	medium	1536/3711		getma.org/?cm=msa&ty=f&p=GPC1_HUMAN&rb=8&re=557&var=G430C	deleterious(0)				YES	GPC1,missense_variant,p.Gly430Cys,ENST00000264039,NM_002081.2;GPC1,missense_variant,p.Gly470Cys,ENST00000420138,;GPC1,missense_variant,p.Gly182Cys,ENST00000455111,;GPC1,downstream_gene_variant,,ENST00000425056,;GPC1,downstream_gene_variant,,ENST00000426280,;GPC1,downstream_gene_variant,,ENST00000427506,;GPC1,upstream_gene_variant,,ENST00000466624,;GPC1,non_coding_transcript_exon_variant,,ENST00000495100,;GPC1,non_coding_transcript_exon_variant,,ENST00000469694,;							MODERATE	1288/1677	G430C	GPC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264039		CCDS2534.1			1	
WDR72	0	LGGM	GRCh37	15	54005036	54005036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000396328.1:c.644G>T	p.Cys215Phe	p.C215F	ENST00000396328	NM_182758.3	215	tGc/tTc	0	1		UPI00001D777D	0	NA	ENST00000360509		ENSG00000166415	26790		36	2.175		HGNC	p.C215F	rs368334900	WDR72		SNV	A:0		1				ENST00000360509	protein_coding	getma.org/?cm=var&var=hg19,15,54005036,C,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18,Superfamily_domains:SSF50978		C/F	A:0.0001	A	medium	686/5887	4.67E-05	getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=94&re=293&var=C215F	deleterious(0)	H0YN02_HUMAN				WDR72,missense_variant,p.Cys215Phe,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Cys214Phe,ENST00000557913,;WDR72,missense_variant,p.Cys215Phe,ENST00000360509,;WDR72,missense_variant,p.Cys215Phe,ENST00000559418,;WDR72,missense_variant,p.Cys215Phe,ENST00000560036,;							MODERATE	644/3309	C215F	WDR72_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353699	2.47E-05	CCDS10151.1			1	
PTER	0	LGGM	GRCh37	10	16553069	16553069	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	17	3	.	.	ENST00000378000.1:c.864C>A	p.Gly288=	p.G288=	ENST00000378000	NM_001001484.2	288	ggC/ggA	0	1	1	UPI00000492E9	0		ENST00000378000		ENSG00000165983	9590		20			HGNC	p.G288G		PTER		SNV							ENST00000535784	protein_coding			Gene3D:3.20.20.140,Pfam_domain:PF02126,PROSITE_profiles:PS51347,hmmpanther:PTHR10819,Superfamily_domains:SSF51556		G		A		1110/3777							YES	PTER,synonymous_variant,p.=,ENST00000378000,NM_001001484.2,NM_001261838.1,NM_030664.4;PTER,synonymous_variant,p.=,ENST00000298942,NM_001261838.1;PTER,synonymous_variant,p.=,ENST00000423462,NM_001261837.1;PTER,synonymous_variant,p.=,ENST00000535784,NM_001261836.1;C1QL3,downstream_gene_variant,,ENST00000298943,NM_001010908.1;							LOW	864/1050		PTER_HUMAN			Transcript			.	ENSP00000367239		CCDS7111.1			1	
XXYLT1	0	LGGM	GRCh37	3	194790653	194790653	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	13	3	.	.	ENST00000310380.6:c.973C>A	p.Arg325Ser	p.R325S	ENST00000310380	NM_152531.4	325	Cgc/Agc	0	1	1	UPI000003B10F	0	NA	ENST00000310380		ENSG00000173950	26639		16	0.83		HGNC	p.R325S		XXYLT1		SNV							ENST00000310380	protein_coding	getma.org/?cm=var&var=hg19,3,194790653,G,T&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF17,Superfamily_domains:SSF53448		R/S		T	low	1082/2727		getma.org/?cm=msa&ty=f&p=XXLT1_HUMAN&rb=201&re=393&var=R325S	deleterious(0)				YES	XXYLT1,missense_variant,p.Arg325Ser,ENST00000310380,NM_152531.4;XXYLT1,missense_variant,p.Arg122Ser,ENST00000437101,;XXYLT1,missense_variant,p.Arg122Ser,ENST00000355729,;XXYLT1,missense_variant,p.Arg179Ser,ENST00000429994,;XXYLT1,missense_variant,p.Arg119Ser,ENST00000356740,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000460582,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000473200,;XXYLT1,downstream_gene_variant,,ENST00000491138,;XXYLT1,downstream_gene_variant,,ENST00000496644,;XXYLT1,downstream_gene_variant,,ENST00000418940,;							MODERATE	973/1182	R325S	XXLT1_HUMAN			Transcript		benign(0.28)	.	ENSP00000309640		CCDS43188.1			1	
SALL2	0	LGGM	GRCh37	14	21992003	21992003	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	27	3	.	.	ENST00000327430.3:c.1859C>G	p.Pro620Arg	p.P620R	ENST00000327430	NM_005407.1	620	cCt/cGt	0	1	1	UPI00001AF54D	0	NA	ENST00000327430		ENSG00000165821	10526		30	0		HGNC	p.P620R		SALL2		SNV			1				ENST00000327430	protein_coding	getma.org/?cm=var&var=hg19,14,21992003,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233		P/R		C	neutral	2154/4925		getma.org/?cm=msa&ty=f&p=SALL2_HUMAN&rb=613&re=644&var=P620R	deleterious_low_confidence(0)	F5H1G6_HUMAN			YES	SALL2,missense_variant,p.Pro620Arg,ENST00000327430,NM_005407.1;SALL2,missense_variant,p.Pro483Arg,ENST00000450879,;SALL2,missense_variant,p.Pro479Arg,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,;							MODERATE	1859/3024	P620R	SALL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000333537		CCDS32045.1			1	
ZNF410	0	LGGM	GRCh37	14	74370800	74370800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000442160.3:c.769C>A	p.Leu257Ile	p.L257I	ENST00000442160	NM_001242924.1	257	Ctc/Atc	0	1		UPI000007240C	0		ENST00000555044		ENSG00000119725	20144		36			HGNC	p.L187I		ZNF410		SNV							ENST00000334521	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF363,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/I		A		912/2601			tolerated(0.14)	J3KNQ6_HUMAN,G3V565_HUMAN,G3V4W2_HUMAN,G3V4H7_HUMAN,G3V4E6_HUMAN,G3V3W2_HUMAN,G3V398_HUMAN,B4DPW2_HUMAN,B4DPE9_HUMAN				ZNF410,missense_variant,p.Leu240Ile,ENST00000555044,NM_021188.2,NM_001242928.1;ZNF410,missense_variant,p.Leu240Ile,ENST00000324593,NM_001242926.1;ZNF410,missense_variant,p.Leu187Ile,ENST00000334521,;ZNF410,missense_variant,p.Leu257Ile,ENST00000442160,NM_001242924.1;ZNF410,missense_variant,p.Leu167Ile,ENST00000540593,NM_001242927.1;ZNF410,5_prime_UTR_variant,,ENST00000554316,;RP5-1021I20.5,intron_variant,,ENST00000554009,;RP5-1021I20.6,upstream_gene_variant,,ENST00000602874,;Y_RNA,downstream_gene_variant,,ENST00000362602,;ZNF410,non_coding_transcript_exon_variant,,ENST00000412490,;ZNF410,non_coding_transcript_exon_variant,,ENST00000555602,;ZNF410,intron_variant,,ENST00000541357,;ZNF410,missense_variant,p.Leu240Ile,ENST00000398139,;RP5-1021I20.4,3_prime_UTR_variant,,ENST00000556551,;ZNF410,3_prime_UTR_variant,,ENST00000556396,;ZNF410,non_coding_transcript_exon_variant,,ENST00000557679,;ZNF410,downstream_gene_variant,,ENST00000554582,;ZNF410,upstream_gene_variant,,ENST00000555620,;							MODERATE	718/1437		ZN410_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000451763		CCDS9821.1			1	
ACAN	0	LGGM	GRCh37	15	89402455	89402455	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	47	3	.	.	ENST00000439576.2:c.6639C>A	p.Ile2213=	p.I2213=	ENST00000439576	NM_013227.3	2213	atC/atA	0	1	1	UPI0001B23381	0		ENST00000439576		ENSG00000157766	319		50			HGNC	p.I2213I		ACAN		SNV			1				ENST00000561243	protein_coding			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		I		A		7013/8840				Q6LE94_HUMAN,E7EX88_HUMAN			YES	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.=,ENST00000560601,;							LOW	6639/7593					Transcript			.	ENSP00000387356		CCDS53970.1			1	
PWP2	0	LGGM	GRCh37	21	45542134	45542134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	3	.	.	ENST00000291576.7:c.1713C>A	p.Asp571Glu	p.D571E	ENST00000291576	NM_005049.2	571	gaC/gaA	0	1	1	UPI0000169D5D	0	NA	ENST00000291576		ENSG00000241945	9711		37	1.305		HGNC	p.D571E		PWP2		SNV							ENST00000291576	protein_coding	getma.org/?cm=var&var=hg19,21,45542134,C,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR19858,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998		D/E		A	low	1840/3297		getma.org/?cm=msa&ty=f&p=PWP2_HUMAN&rb=530&re=729&var=D571E	tolerated(0.19)				YES	PWP2,missense_variant,p.Asp571Glu,ENST00000291576,NM_005049.2;PWP2,upstream_gene_variant,,ENST00000494310,;PWP2,downstream_gene_variant,,ENST00000486126,;PWP2,non_coding_transcript_exon_variant,,ENST00000471490,;							MODERATE	1713/2760	D571E	PWP2_HUMAN			Transcript		benign(0.109)	.	ENSP00000291576		CCDS33579.1			1	
IPPK	0	LGGM	GRCh37	9	95378281	95378281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	27	3	.	.	ENST00000287996.3:c.1309G>T	p.Val437Leu	p.V437L	ENST00000287996	NM_022755.5	437	Gtg/Ttg	0	1	1	UPI000006EBCA	0	NA	ENST00000287996		ENSG00000127080	14645		30	1.7		HGNC	p.V109L		IPPK		SNV							ENST00000375522	protein_coding	getma.org/?cm=var&var=hg19,9,95378281,C,A&fts=all		Pfam_domain:PF06090,hmmpanther:PTHR14456,Low_complexity_(Seg):seg		V/L		A	low	1586/4401		getma.org/?cm=msa&ty=f&p=IPPK_HUMAN&rb=13&re=458&var=V437L	deleterious(0.02)				YES	IPPK,missense_variant,p.Val437Leu,ENST00000287996,NM_022755.5;IPPK,missense_variant,p.Val109Leu,ENST00000375522,;CENPP,3_prime_UTR_variant,,ENST00000375587,NM_001012267.1;CENPP,downstream_gene_variant,,ENST00000375576,;CENPP,downstream_gene_variant,,ENST00000375579,NM_001286971.1;IPPK,non_coding_transcript_exon_variant,,ENST00000486841,;							MODERATE	1309/1476	V437L	IPPK_HUMAN			Transcript		benign(0.257)	.	ENSP00000287996		CCDS6699.1			1	
CCDC158	0	LGGM	GRCh37	4	77274376	77274376	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	41	3	.	.	ENST00000388914.3:c.2345C>A	p.Ala782Asp	p.A782D	ENST00000388914	NM_001042784.1	782	gCc/gAc	0	1	1	UPI00004DF23B	0	NA	ENST00000388914		ENSG00000163749	26374		44	0.55		HGNC	p.A782D	rs777599728	CCDC158	6.12E-05	SNV							ENST00000388914	protein_coding	getma.org/?cm=var&var=hg19,4,77274376,G,T&fts=all		hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140		A/D		T	neutral	2498/3663		getma.org/?cm=msa&ty=f&p=CD158_HUMAN&rb=251&re=1111&var=A782D	tolerated(0.06)				YES	CCDC158,missense_variant,p.Ala782Asp,ENST00000388914,NM_001042784.1;RNU6-1000P,downstream_gene_variant,,ENST00000391066,;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;							MODERATE	2345/3342	A782D	CD158_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000373566	8.28E-06	CCDS43242.1			1	
PRMT7	0	LGGM	GRCh37	16	68373267	68373267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	35	3	.	.	ENST00000339507.5:c.547C>A	p.Gln183Lys	p.Q183K	ENST00000339507		183	Cag/Aag	0	1	1	UPI0000041857	0	NA	ENST00000339507		ENSG00000132600	25557		38	3.075		HGNC	p.Q133K		PRMT7		SNV							ENST00000449359	protein_coding	getma.org/?cm=var&var=hg19,16,68373267,C,A&fts=all		PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF4,hmmpanther:PTHR11006,PIRSF_domain:PIRSF036946,Superfamily_domains:SSF53335		Q/K		A	medium	1377/4238		getma.org/?cm=msa&ty=f&p=ANM7_HUMAN&rb=150&re=349&var=Q183K	deleterious(0)	H3BSS9_HUMAN,H3BRQ9_HUMAN,H3BRD3_HUMAN,H3BPZ8_HUMAN,H3BNS2_HUMAN			YES	PRMT7,missense_variant,p.Gln183Lys,ENST00000339507,;PRMT7,missense_variant,p.Gln133Lys,ENST00000441236,;PRMT7,missense_variant,p.Gln109Lys,ENST00000348497,;PRMT7,missense_variant,p.Gln133Lys,ENST00000449359,NM_019023.2,NM_001184824.1;PRMT7,missense_variant,p.Gln183Lys,ENST00000569571,;PRMT7,downstream_gene_variant,,ENST00000569047,;PRMT7,non_coding_transcript_exon_variant,,ENST00000564441,;PRMT7,non_coding_transcript_exon_variant,,ENST00000564050,;PRMT7,non_coding_transcript_exon_variant,,ENST00000563520,;PRMT7,downstream_gene_variant,,ENST00000563562,;PRMT7,missense_variant,p.Gln183Lys,ENST00000568975,;PRMT7,3_prime_UTR_variant,,ENST00000562050,;PRMT7,non_coding_transcript_exon_variant,,ENST00000567542,;PRMT7,non_coding_transcript_exon_variant,,ENST00000565356,;PRMT7,downstream_gene_variant,,ENST00000562381,;PRMT7,downstream_gene_variant,,ENST00000566341,;							MODERATE	547/2079	Q183K	ANM7_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000343103		CCDS10866.1			1	
KIAA0556	0	LGGM	GRCh37	16	27761622	27761622	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	43	3	.	.	ENST00000261588.4:c.3341C>T	p.Ala1114Val	p.A1114V	ENST00000261588	NM_015202.2	1114	gCg/gTg	0	1	1	UPI000045693C	0	NA	ENST00000261588		ENSG00000047578	29068		46	0.205		HGNC	p.A1114V	rs748340428	KIAA0556		SNV							ENST00000261588	protein_coding	getma.org/?cm=var&var=hg19,16,27761622,C,T&fts=all		Pfam_domain:PF14652,hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0		A/V		T	neutral	3360/6616	1.55E-05	getma.org/?cm=msa&ty=f&p=K0556_HUMAN&rb=950&re=1149&var=A1114V	deleterious(0.02)	B4DHT8_HUMAN			YES	KIAA0556,missense_variant,p.Ala1114Val,ENST00000261588,NM_015202.2;KIAA0556,non_coding_transcript_exon_variant,,ENST00000573850,;							MODERATE	3341/4857	A1114V	K0556_HUMAN			Transcript		benign(0.003)	.	ENSP00000261588	8.24E-06	CCDS32415.1			1	
ZC3H7B	0	LGGM	GRCh37	22	41726086	41726086	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	24	3	.	.	ENST00000352645.4:c.504C>A	p.Arg168=	p.R168=	ENST00000352645	NM_017590.5	168	cgC/cgA	0	1	1	UPI000002B2AD	0		ENST00000352645		ENSG00000100403	30869		27			HGNC	p.R168R		ZC3H7B		SNV							ENST00000351589	protein_coding			hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6		R		A		761/5909							YES	ZC3H7B,synonymous_variant,p.=,ENST00000352645,NM_017590.5;ZC3H7B,synonymous_variant,p.=,ENST00000351589,;ZC3H7B,non_coding_transcript_exon_variant,,ENST00000486331,;							LOW	504/2934		Z3H7B_HUMAN			Transcript			.	ENSP00000345793		CCDS14013.1			1	
OPHN1	0	LGGM	GRCh37	X	67518901	67518901	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	24	3	.	.	ENST00000355520.5:c.192G>T	p.Leu64=	p.L64=	ENST00000355520	NM_002547.2	64	ctG/ctT	0	1	1	UPI000003319E	0		ENST00000355520		ENSG00000079482	8148		27			HGNC	p.L64L		OPHN1		SNV			1				ENST00000540071	protein_coding			Gene3D:1y2oA00,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF2,Superfamily_domains:SSF103657		L		A		834/7879				Q7Z2H1_HUMAN			YES	OPHN1,synonymous_variant,p.=,ENST00000355520,NM_002547.2;OPHN1,synonymous_variant,p.=,ENST00000540071,;OPHN1,non_coding_transcript_exon_variant,,ENST00000486068,;							LOW	192/2409		OPHN1_HUMAN			Transcript			.	ENSP00000347710		CCDS14388.1			1	
TIGIT	0	LGGM	GRCh37	3	114012901	114012901	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	3	.	.	ENST00000486257.1:c.-8G>T		*3*	ENST00000486257				0	1		UPI000013F7B8	0		ENST00000383671		ENSG00000181847	26838		40			HGNC	p.G65V		TIGIT		SNV							ENST00000481065	protein_coding							T		69/2967				C9JZW6_HUMAN,C9J0B0_HUMAN				TIGIT,missense_variant,p.Gly65Val,ENST00000481065,;TIGIT,5_prime_UTR_variant,,ENST00000486257,;TIGIT,5_prime_UTR_variant,,ENST00000383671,NM_173799.3;TIGIT,intron_variant,,ENST00000461158,;TIGIT,upstream_gene_variant,,ENST00000484319,;TIGIT,non_coding_transcript_exon_variant,,ENST00000485814,;							MODIFIER	-/735		TIGIT_HUMAN			Transcript			.	ENSP00000373167		CCDS2980.1			1	
RPS6KA5	0	LGGM	GRCh37	14	91366958	91366958	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	3	.	.	ENST00000261991.3:c.1242G>C	p.Met414Ile	p.M414I	ENST00000261991	NM_004755.2	414	atG/atC	0	1	1	UPI0000031C30	0	NA	ENST00000261991		ENSG00000100784	10434		40	1.87		HGNC	p.M335I		RPS6KA5		SNV							ENST00000536315	protein_coding	getma.org/?cm=var&var=hg19,14,91366958,C,G&fts=all		PIRSF_domain:PIRSF000606,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF42		M/I		G	low	1416/4202		getma.org/?cm=msa&ty=f&p=KS6A5_HUMAN&rb=382&re=426&var=M414I	tolerated(0.1)	Q9UG98_HUMAN,B7Z2Y5_HUMAN			YES	RPS6KA5,missense_variant,p.Met414Ile,ENST00000261991,NM_004755.2;RPS6KA5,missense_variant,p.Met335Ile,ENST00000536315,;RPS6KA5,missense_variant,p.Met414Ile,ENST00000418736,NM_182398.1;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;RPS6KA5,downstream_gene_variant,,ENST00000554206,;							MODERATE	1242/2409	M414I	KS6A5_HUMAN			Transcript		benign(0.001)	.	ENSP00000261991		CCDS9893.1			1	
SEPN1	0	LGGM	GRCh37	1	26135098	26135098	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	3	.	.	ENST00000361547.2:c.565C>A	p.Arg189=	p.R189=	ENST00000361547	NM_020451.2	189	Cga/Aga	0	1	1	UPI00003761B2	0		ENST00000361547		ENSG00000162430	15999		37			HGNC	p.R155R		SEPN1		SNV			1				ENST00000354177	protein_coding			hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF39		R		A		620/4332				D3DPJ3_HUMAN			YES	SEPN1,synonymous_variant,p.=,ENST00000361547,NM_020451.2;SEPN1,synonymous_variant,p.=,ENST00000354177,;SEPN1,synonymous_variant,p.=,ENST00000374315,NM_206926.1;SEPN1,upstream_gene_variant,,ENST00000494537,;RP1-317E23.6,upstream_gene_variant,,ENST00000559265,;							LOW	565/1773		SELN_HUMAN			Transcript			.	ENSP00000355141		CCDS41282.1			1	
SEMA4C	0	LGGM	GRCh37	2	97529525	97529525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	3	.	.	ENST00000305476.5:c.1337G>A	p.Gly446Asp	p.G446D	ENST00000305476	NM_017789.4	446	gGc/gAc	0	1	1	UPI00001A7981	0	getma.org/pdb.php?prot=SEM4C_HUMAN&from=53&to=481&var=G446D	ENST00000305476		ENSG00000168758	10731		40	3.535		HGNC	p.G446D		SEMA4C		SNV							ENST00000305476	protein_coding	getma.org/?cm=var&var=hg19,2,97529525,C,T&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF16,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		G/D		T	high	1470/3545		getma.org/?cm=msa&ty=f&p=SEM4C_HUMAN&rb=53&re=481&var=G446D	deleterious(0)	Q8NBN9_HUMAN,Q6P5A5_HUMAN,Q53RE7_HUMAN,C9JV89_HUMAN,C9J4M7_HUMAN			YES	SEMA4C,missense_variant,p.Gly446Asp,ENST00000305476,NM_017789.4;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000482925,;SEMA4C,upstream_gene_variant,,ENST00000467747,;SEMA4C,upstream_gene_variant,,ENST00000474420,;							MODERATE	1337/2502	G446D	SEM4C_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000306844		CCDS2029.1			1	
ZNHIT2	0	LGGM	GRCh37	11	64883946	64883946	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	3	.	.	ENST00000310597.4:c.1180C>A	p.Pro394Thr	p.P394T	ENST00000310597	NM_014205.2	394	Cca/Aca	0	1	1	UPI0000049CD6	0	NA	ENST00000310597		ENSG00000174276	1177		45	0.55		HGNC	p.P394T		ZNHIT2		SNV							ENST00000310597	protein_coding	getma.org/?cm=var&var=hg19,11,64883946,G,T&fts=all		hmmpanther:PTHR15555:SF0,hmmpanther:PTHR15555		P/T		T	neutral	1225/1296		getma.org/?cm=msa&ty=f&p=ZNHI2_HUMAN&rb=237&re=403&var=P394T	tolerated(0.11)	A0PJH8_HUMAN			YES	ZNHIT2,missense_variant,p.Pro394Thr,ENST00000310597,NM_014205.2;VPS51,downstream_gene_variant,,ENST00000279281,NM_013265.3;TM7SF2,downstream_gene_variant,,ENST00000279263,NM_003273.3;TM7SF2,downstream_gene_variant,,ENST00000540748,;TM7SF2,downstream_gene_variant,,ENST00000345348,NM_001277233.1;FAU,downstream_gene_variant,,ENST00000529259,;TM7SF2,downstream_gene_variant,,ENST00000525385,;TM7SF2,downstream_gene_variant,,ENST00000531321,;TM7SF2,downstream_gene_variant,,ENST00000534371,;FAU,downstream_gene_variant,,ENST00000529639,NM_001997.4;TM7SF2,downstream_gene_variant,,ENST00000526809,;TM7SF2,downstream_gene_variant,,ENST00000529414,;TM7SF2,downstream_gene_variant,,ENST00000524986,;FAU,downstream_gene_variant,,ENST00000531743,;TM7SF2,downstream_gene_variant,,ENST00000528802,;VPS51,downstream_gene_variant,,ENST00000530673,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000526085,;TM7SF2,downstream_gene_variant,,ENST00000527968,;FAU,downstream_gene_variant,,ENST00000527548,;FAU,downstream_gene_variant,,ENST00000434372,;FAU,downstream_gene_variant,,ENST00000526555,;FAU,downstream_gene_variant,,ENST00000279259,;TM7SF2,downstream_gene_variant,,ENST00000530750,;FAU,downstream_gene_variant,,ENST00000525297,;AP003068.9,upstream_gene_variant,,ENST00000528887,;AP003068.12,upstream_gene_variant,,ENST00000527789,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,downstream_gene_variant,,ENST00000531029,;TM7SF2,downstream_gene_variant,,ENST00000533646,;TM7SF2,downstream_gene_variant,,ENST00000530650,;TM7SF2,downstream_gene_variant,,ENST00000529601,;TM7SF2,downstream_gene_variant,,ENST00000533766,;VPS51,downstream_gene_variant,,ENST00000534591,;FAU,downstream_gene_variant,,ENST00000531357,;TM7SF2,downstream_gene_variant,,ENST00000529292,;TM7SF2,downstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;TM7SF2,downstream_gene_variant,,ENST00000527851,;TM7SF2,downstream_gene_variant,,ENST00000524690,;TM7SF2,downstream_gene_variant,,ENST00000529233,;TM7SF2,downstream_gene_variant,,ENST00000530892,;TM7SF2,downstream_gene_variant,,ENST00000528026,;TM7SF2,downstream_gene_variant,,ENST00000532328,;TM7SF2,downstream_gene_variant,,ENST00000534667,;							MODERATE	1180/1212	P394T	ZNHI2_HUMAN			Transcript		benign(0.425)	.	ENSP00000308548		CCDS8094.1			1	
LIG1	0	LGGM	GRCh37	19	48647148	48647148	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	43	3	.	.	ENST00000263274.7:c.849G>T	p.Pro283=	p.P283=	ENST00000263274	NM_000234.1	283	ccG/ccT	0	1	1	UPI0000129656	0		ENST00000263274		ENSG00000105486	6598		46			HGNC	p.P215P		LIG1		SNV							ENST00000536218	protein_coding			hmmpanther:PTHR10459:SF10,hmmpanther:PTHR10459,Gene3D:1x9nA01,Superfamily_domains:0050884		P		A		1269/3384				Q76GR4_HUMAN,M0R1S4_HUMAN,M0QY71_HUMAN			YES	LIG1,synonymous_variant,p.=,ENST00000263274,NM_000234.1;LIG1,synonymous_variant,p.=,ENST00000427526,;LIG1,synonymous_variant,p.=,ENST00000536218,;CTC-453G23.4,upstream_gene_variant,,ENST00000594589,;LIG1,synonymous_variant,p.=,ENST00000594759,;LIG1,synonymous_variant,p.=,ENST00000601091,;LIG1,synonymous_variant,p.=,ENST00000542460,;LIG1,non_coding_transcript_exon_variant,,ENST00000594067,;							LOW	849/2760		DNLI1_HUMAN			Transcript			.	ENSP00000263274		CCDS12711.1			1	
UBN2	0	LGGM	GRCh37	7	138960847	138960847	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	45	3	.	.	ENST00000473989.3:c.1978C>A	p.Leu660Ile	p.L660I	ENST00000473989	NM_173569.3	660	Ctt/Att	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		48	2.565		HGNC	p.L577I		UBN2		SNV							ENST00000288561	protein_coding	getma.org/?cm=var&var=hg19,7,138960847,C,A&fts=all		Pfam_domain:PF14075,hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		L/I		A	medium	1978/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=448&re=664&var=L660I	deleterious(0.01)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Leu660Ile,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Leu577Ile,ENST00000288561,;UBN2,missense_variant,p.Leu429Ile,ENST00000483726,;							MODERATE	1978/4044	L660I	UBN2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000418648		CCDS43655.2			1	
ZNF81	0	LGGM	GRCh37	X	47775506	47775506	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	23	3	.	.	ENST00000376954.1:c.1461G>T	p.Met487Ile	p.M487I	ENST00000376954		487	atG/atT	0	1		UPI000023FCDA	0	getma.org/pdb.php?prot=ZNF81_HUMAN&from=484&to=509&var=M487I	ENST00000338637		ENSG00000197779	13156		26	-0.59		HGNC	p.M487I		ZNF81		SNV			1				ENST00000338637	protein_coding	getma.org/?cm=var&var=hg19,X,47775506,G,T&fts=all		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		M/I		T	neutral	1710/7859		getma.org/?cm=msa&ty=f&p=ZNF81_HUMAN&rb=464&re=529&var=M487I	tolerated(0.62)					ZNF81,missense_variant,p.Met487Ile,ENST00000376954,;ZNF81,missense_variant,p.Met487Ile,ENST00000338637,NM_007137.3;ZNF81,intron_variant,,ENST00000376950,;							MODERATE	1461/1986	M487I	ZNF81_HUMAN			Transcript		benign(0.342)	.	ENSP00000341151		CCDS43933.1			1	
TTC7A	0	LGGM	GRCh37	2	47202150	47202150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	36	3	.	.	ENST00000319190.5:c.556C>A	p.Arg186Ser	p.R186S	ENST00000319190	NM_020458.2	186	Cgc/Agc	0	1	1	UPI00001BDC89	0	NA	ENST00000319190		ENSG00000068724	19750		39	0.9		HGNC	p.R152S		TTC7A		SNV			1				ENST00000409245	protein_coding	getma.org/?cm=var&var=hg19,2,47202150,C,A&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF342		R/S		A	low	924/5157		getma.org/?cm=msa&ty=f&p=TTC7A_HUMAN&rb=44&re=243&var=R186S	tolerated(0.52)	F5H4E1_HUMAN			YES	TTC7A,missense_variant,p.Arg186Ser,ENST00000319190,NM_020458.2;TTC7A,missense_variant,p.Arg186Ser,ENST00000394850,;TTC7A,missense_variant,p.Arg152Ser,ENST00000409245,;TTC7A,5_prime_UTR_variant,,ENST00000263737,;TTC7A,non_coding_transcript_exon_variant,,ENST00000461601,;TTC7A,upstream_gene_variant,,ENST00000474321,;TTC7A,missense_variant,p.Arg186Ser,ENST00000441914,;TTC7A,3_prime_UTR_variant,,ENST00000409825,;TTC7A,upstream_gene_variant,,ENST00000491786,;							MODERATE	556/2577	R186S	TTC7A_HUMAN			Transcript		benign(0.004)	.	ENSP00000316699		CCDS33193.1			1	
SLC17A9	0	LGGM	GRCh37	20	61588214	61588214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	17	3	.	.	ENST00000370351.4:c.157C>A	p.Gln53Lys	p.Q53K	ENST00000370351	NM_022082.3	53	Cag/Aag	0	1	1	UPI000014051D	0	NA	ENST00000370351		ENSG00000101194	16192		20	0.53		HGNC	p.Q53K	COSM193325	SLC17A9		SNV			1			1	ENST00000370351	protein_coding	getma.org/?cm=var&var=hg19,20,61588214,C,A&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11662:SF183,hmmpanther:PTHR11662,PROSITE_profiles:PS50850		Q/K		A	neutral	288/2539		getma.org/?cm=msa&ty=f&p=S17A9_HUMAN&rb=30&re=387&var=Q53K	tolerated(0.38)				YES	SLC17A9,missense_variant,p.Gln47Lys,ENST00000370349,;SLC17A9,missense_variant,p.Gln53Lys,ENST00000370351,NM_022082.3;SLC17A9,missense_variant,p.Gln73Lys,ENST00000411611,;SLC17A9,non_coding_transcript_exon_variant,,ENST00000488738,;					1		MODERATE	157/1311	Q53K	S17A9_HUMAN			Transcript		benign(0.232)	.	ENSP00000359376		CCDS42901.1			1	
UTP14C	0	LGGM	GRCh37	13	52604803	52604803	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	44	3	.	.	ENST00000521776.2:c.1863G>T	p.Lys621Asn	p.K621N	ENST00000521776	NM_021645.5	621	aaG/aaT	0	1	1	UPI000006DB4B	0	NA	ENST00000521776		ENSG00000253797	20321		47	2.805		HGNC	p.K621N		UTP14C		SNV							ENST00000521776	protein_coding	getma.org/?cm=var&var=hg19,13,52604803,G,T&fts=all		Pfam_domain:PF04615,hmmpanther:PTHR14150,hmmpanther:PTHR14150:SF16		K/N		T	medium	2596/5529		getma.org/?cm=msa&ty=f&p=UT14C_HUMAN&rb=17&re=735&var=K621N	deleterious(0.02)				YES	UTP14C,missense_variant,p.Lys621Asn,ENST00000521776,NM_021645.5;ALG11,downstream_gene_variant,,ENST00000521508,NM_001004127.2;ALG11,downstream_gene_variant,,ENST00000523764,;ALG11,downstream_gene_variant,,ENST00000519151,;							MODERATE	1863/2301	K621N	UT14C_HUMAN			Transcript		benign(0.334)	.	ENSP00000428619		CCDS31978.1			1	
ZNF671	0	LGGM	GRCh37	19	58232362	58232362	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	24	3	.	.	ENST00000317398.6:c.1092G>T	p.Thr364=	p.T364=	ENST00000317398	NM_024833.2	364	acG/acT	0	1	1	UPI000013C612	0		ENST00000317398		ENSG00000083814	26279		27			HGNC	p.T364T		ZNF671		SNV							ENST00000317398	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24390:SF44,hmmpanther:PTHR24390,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		T		A		1188/2431				C9J3V7_HUMAN			YES	ZNF671,synonymous_variant,p.=,ENST00000317398,NM_024833.2;ZNF671,synonymous_variant,p.=,ENST00000335820,;AC003006.7,intron_variant,,ENST00000594684,;ZNF671,downstream_gene_variant,,ENST00000596939,;ZNF551,downstream_gene_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF671,downstream_gene_variant,,ENST00000594803,;ZNF671,downstream_gene_variant,,ENST00000599961,;ZNF671,3_prime_UTR_variant,,ENST00000600125,;ZNF671,3_prime_UTR_variant,,ENST00000601584,;							LOW	1092/1605		ZN671_HUMAN			Transcript			.	ENSP00000321848		CCDS12961.1			1	
CILP	0	LGGM	GRCh37	15	65489140	65489140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	3	.	.	ENST00000261883.4:c.3484G>T	p.Gly1162Cys	p.G1162C	ENST00000261883	NM_003613.3	1162	Ggc/Tgc	0	1	1	UPI000013D21B	0	NA	ENST00000261883		ENSG00000138615	1980		25	1.1		HGNC	p.G1162C		CILP		SNV			1				ENST00000261883	protein_coding	getma.org/?cm=var&var=hg19,15,65489140,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3		G/C		A	low	3651/4454		getma.org/?cm=msa&ty=f&p=CILP1_HUMAN&rb=411&re=1180&var=G1162C	deleterious(0.03)				YES	CILP,missense_variant,p.Gly1162Cys,ENST00000261883,NM_003613.3;							MODERATE	3484/3555	G1162C	CILP1_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000261883		CCDS10203.1			1	
DIS3L2	0	LGGM	GRCh37	2	233164789	233164789	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	25	3	.	.	ENST00000325385.7:c.1699C>A	p.Pro567Thr	p.P567T	ENST00000325385	NM_152383.4	567	Cct/Act	0	1	1	UPI000004BF03	0	getma.org/pdb.php?prot=DI3L2_HUMAN&from=371&to=721&var=P567T	ENST00000325385		ENSG00000144535	28648		28	2.665		HGNC	p.P567T		DIS3L2		SNV			1				ENST00000409307	protein_coding	getma.org/?cm=var&var=hg19,2,233164789,C,A&fts=all		HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Pfam_domain:PF00773,SMART_domains:SM00955,Superfamily_domains:SSF50249		P/T		A	medium	1975/3501		getma.org/?cm=msa&ty=f&p=DI3L2_HUMAN&rb=371&re=721&var=P567T	deleterious(0)	H7C440_HUMAN,C9JGP4_HUMAN			YES	DIS3L2,missense_variant,p.Pro567Thr,ENST00000325385,NM_152383.4;DIS3L2,missense_variant,p.Pro567Thr,ENST00000409307,;DIS3L2,missense_variant,p.Pro202Thr,ENST00000424049,;DIS3L2,intron_variant,,ENST00000273009,NM_001257281.1;DIS3L2,non_coding_transcript_exon_variant,,ENST00000498319,;DIS3L2,missense_variant,p.Pro567Thr,ENST00000390005,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;DIS3L2,3_prime_UTR_variant,,ENST00000445090,;							MODERATE	1699/2658	P567T	DI3L2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000315569		CCDS42834.1			1	
CAPN10	0	LGGM	GRCh37	2	241534454	241534454	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	24	3	.	.	ENST00000391984.2:c.1011C>A	p.Cys337Ter	p.C337*	ENST00000391984	NM_023083.3	337	tgC/tgA	0	1	1	UPI00001AE96D	0	NA	ENST00000391984		ENSG00000142330	1477		27	0		HGNC	p.C337X		CAPN10		SNV			1				ENST00000354082	protein_coding	getma.org/?cm=var&var=hg19,2,241534454,C,A&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF30		C/*		A	NA	1207/2644		NA					YES	CAPN10,stop_gained,p.Cys337Ter,ENST00000391984,NM_023083.3;CAPN10,stop_gained,p.Cys337Ter,ENST00000404753,;CAPN10,stop_gained,p.Cys337Ter,ENST00000354082,NM_023085.3;CAPN10,stop_gained,p.Cys337Ter,ENST00000391982,;CAPN10,intron_variant,,ENST00000270364,;CAPN10,intron_variant,,ENST00000352879,;CAPN10,downstream_gene_variant,,ENST00000432084,;CAPN10,stop_gained,p.Cys337Ter,ENST00000416591,;CAPN10,stop_gained,p.Cys337Ter,ENST00000391983,;CAPN10,stop_gained,p.Cys337Ter,ENST00000357048,;CAPN10,3_prime_UTR_variant,,ENST00000270361,;CAPN10,non_coding_transcript_exon_variant,,ENST00000494738,;CAPN10,non_coding_transcript_exon_variant,,ENST00000465943,;CAPN10,upstream_gene_variant,,ENST00000493058,;CAPN10,upstream_gene_variant,,ENST00000426297,;CAPN10,upstream_gene_variant,,ENST00000483602,;							HIGH	1011/2019	C337*	CAN10_HUMAN			Transcript			.	ENSP00000375844		CCDS42838.1			1	
PIPOX	0	LGGM	GRCh37	17	27380537	27380537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	39	3	.	.	ENST00000323372.4:c.584C>A	p.Ala195Asp	p.A195D	ENST00000323372	NM_016518.2	195	gCt/gAt	0	1	1	UPI00001410B0	0	getma.org/pdb.php?prot=SOX_HUMAN&from=9&to=364&var=A195D	ENST00000323372		ENSG00000179761	17804		42	3.52		HGNC	p.A195D		PIPOX		SNV							ENST00000323372	protein_coding	getma.org/?cm=var&var=hg19,17,27380537,C,A&fts=all		hmmpanther:PTHR10961:SF7,hmmpanther:PTHR10961,Gene3D:3.50.50.60,Pfam_domain:PF01266,TIGRFAM_domain:TIGR01377,Superfamily_domains:SSF51905		A/D		A	high	910/2410		getma.org/?cm=msa&ty=f&p=SOX_HUMAN&rb=9&re=364&var=A195D	deleterious(0)	K7EK30_HUMAN,K7EJU8_HUMAN			YES	PIPOX,missense_variant,p.Ala195Asp,ENST00000323372,NM_016518.2;PIPOX,missense_variant,p.Ala129Asp,ENST00000469082,;PIPOX,missense_variant,p.Ala129Asp,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,;							MODERATE	584/1173	A195D	SOX_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000317721		CCDS11248.1			1	
CMTR2	0	LGGM	GRCh37	16	71319733	71319733	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000338099.5:c.91G>T	p.Ala31Ser	p.A31S	ENST00000338099		31	Gcc/Tcc	0	1	1	UPI000006EA8B	0	NA	ENST00000338099		ENSG00000180917	25635		36	1.24		HGNC	p.A31S	rs775688863	CMTR2		SNV							ENST00000563876	protein_coding	getma.org/?cm=var&var=hg19,16,71319733,C,A&fts=all		hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF1		A/S		A	low	428/4869		getma.org/?cm=msa&ty=f&p=FTSJ1_HUMAN&rb=1&re=109&var=A31S	tolerated(0.77)	H3BUK2_HUMAN,H3BTZ7_HUMAN,H3BS00_HUMAN,H3BR19_HUMAN,H3BNZ8_HUMAN			YES	CMTR2,missense_variant,p.Ala31Ser,ENST00000338099,;CMTR2,missense_variant,p.Ala31Ser,ENST00000434935,NM_001099642.1,NM_018348.5;CMTR2,missense_variant,p.Ala31Ser,ENST00000565850,;CMTR2,missense_variant,p.Ala31Ser,ENST00000568910,;CMTR2,missense_variant,p.Ala31Ser,ENST00000563876,;CMTR2,missense_variant,p.Ala31Ser,ENST00000564183,;CMTR2,missense_variant,p.Ala31Ser,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;	0.000578						MODERATE	91/2313	A31S	CMTR2_HUMAN			Transcript		benign(0.002)	common_variant	ENSP00000337512	4.12E-05	CCDS10898.1			1	
NBR1	0	LGGM	GRCh37	17	41345616	41345616	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	31	3	.	.	ENST00000422280.1:c.1485C>A	p.Ile495=	p.I495=	ENST00000422280	NM_031858.2	495	atC/atA	0	1		UPI0000161BF3	0		ENST00000341165		ENSG00000188554	6746		34			HGNC	p.I474I		NBR1		SNV							ENST00000542611	protein_coding			hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1		I		A		1625/4656				Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN				NBR1,synonymous_variant,p.=,ENST00000422280,NM_031858.2;NBR1,synonymous_variant,p.=,ENST00000341165,NM_031862.2;NBR1,synonymous_variant,p.=,ENST00000389312,;NBR1,synonymous_variant,p.=,ENST00000590996,NM_005899.3;NBR1,synonymous_variant,p.=,ENST00000589872,;NBR1,synonymous_variant,p.=,ENST00000542611,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;							LOW	1485/2901		NBR1_HUMAN			Transcript			.	ENSP00000343479		CCDS45694.1			1	
DSPP	0	LGGM	GRCh37	4	88533927	88533927	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	36	3	.	.	ENST00000399271.1:c.589G>T	p.Asp197Tyr	p.D197Y	ENST00000399271	NM_014208.3	197	Gat/Tat	0	1		UPI00006BFF57	0	NA	ENST00000282478		ENSG00000152591	3054		39	0.895		HGNC	p.D197Y		DSPP		SNV			1				ENST00000282478	protein_coding	getma.org/?cm=var&var=hg19,4,88533927,G,T&fts=all				D/Y		T	low	622/4281		getma.org/?cm=msa&ty=f&p=DSPP_HUMAN&rb=1&re=200&var=D197Y		B7SEZ4_HUMAN,B7SEY4_HUMAN				DSPP,missense_variant,p.Asp197Tyr,ENST00000399271,NM_014208.3;DSPP,missense_variant,p.Asp197Tyr,ENST00000282478,;RP11-742B18.1,intron_variant,,ENST00000506480,;							MODERATE	589/3906	D197Y	DSPP_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000282478		CCDS43248.1			1	
SULF2	0	LGGM	GRCh37	20	46295220	46295220	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	3	.	.	ENST00000359930.4:c.1589G>T	p.Ser530Ile	p.S530I	ENST00000359930	NM_018837.3	530	aGc/aTc	0	1	1	UPI000003FFBA	0	NA	ENST00000359930		ENSG00000196562	20392		43	1.905		HGNC	p.S530I		SULF2		SNV							ENST00000467815	protein_coding	getma.org/?cm=var&var=hg19,20,46295220,C,A&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Pfam_domain:PF12548,PIRSF_domain:PIRSF036665		S/I		A	medium	2441/4915		getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=527&re=665&var=S530I	tolerated(0.13)	Q5BKT1_HUMAN,B1AMP9_HUMAN			YES	SULF2,missense_variant,p.Ser530Ile,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Ser530Ile,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Ser530Ile,ENST00000361612,;SULF2,missense_variant,p.Ser530Ile,ENST00000467815,;SULF2,upstream_gene_variant,,ENST00000495544,;SULF2,upstream_gene_variant,,ENST00000433632,;							MODERATE	1589/2613	S530I	SULF2_HUMAN			Transcript		benign(0.014)	.	ENSP00000353007		CCDS13408.1			1	
SCN7A	0	LGGM	GRCh37	2	167313391	167313391	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	3	.	.	ENST00000409855.1:c.1279G>T	p.Glu427Ter	p.E427*	ENST00000409855	NM_002976.3	427	Gaa/Taa	0	1	1	UPI0000209019	0	NA	ENST00000409855		ENSG00000136546	10594	0.00211	24	0		HGNC	p.E427X	rs560105610	SCN7A		SNV							ENST00000419992	protein_coding	getma.org/?cm=var&var=hg19,2,167313391,C,A&fts=all	A:0	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14		E/*		A	NA	1406/7183		NA		Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN	A:0.0014	A:0	YES	SCN7A,stop_gained,p.Glu427Ter,ENST00000409855,NM_002976.3;SCN7A,stop_gained,p.Glu427Ter,ENST00000419992,;SCN7A,downstream_gene_variant,,ENST00000441411,;SCN7A,stop_gained,p.Glu427Ter,ENST00000424326,;SCN7A,downstream_gene_variant,,ENST00000497562,;		A:0.0002					HIGH	1279/5049	E427*	SCN7A_HUMAN		A:0	Transcript			common_variant	ENSP00000386796	1.07E-05	CCDS46442.1		A:0	1	
NR4A2	0	LGGM	GRCh37	2	157186567	157186567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	15	3	.	.	ENST00000339562.4:c.132G>T	p.Met44Ile	p.M44I	ENST00000339562	NM_006186.3	44	atG/atT	0	1	1	UPI0000036A18	0	NA	ENST00000339562		ENSG00000153234	7981		18	1.795		HGNC	p.M44I		NR4A2		SNV							ENST00000409108	protein_coding	getma.org/?cm=var&var=hg19,2,157186567,C,A&fts=all		hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0,Prints_domain:PR01284		M/I		A	low	495/3472		getma.org/?cm=msa&ty=f&p=NR4A2_HUMAN&rb=1&re=79&var=M44I	deleterious(0.01)	Q6NXU0_HUMAN,F1D8N6_HUMAN,C9JWQ1_HUMAN,C9IYM5_HUMAN			YES	NR4A2,missense_variant,p.Met44Ile,ENST00000339562,NM_006186.3;NR4A2,missense_variant,p.Met44Ile,ENST00000409572,;NR4A2,missense_variant,p.Met55Ile,ENST00000539077,;NR4A2,missense_variant,p.Met44Ile,ENST00000409108,;NR4A2,missense_variant,p.Met44Ile,ENST00000424077,;NR4A2,missense_variant,p.Met23Ile,ENST00000406048,;NR4A2,intron_variant,,ENST00000426264,;NR4A2,intron_variant,,ENST00000429376,;NR4A2,intron_variant,,ENST00000421709,;NR4A2,intron_variant,,ENST00000417972,;NR4A2,intron_variant,,ENST00000417764,;							MODERATE	132/1797	M44I	NR4A2_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000344479		CCDS2201.1			1	
LDHD	0	LGGM	GRCh37	16	75146508	75146508	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000300051.4:c.1350G>T	p.Gln450His	p.Q450H	ENST00000300051	NM_153486.3	450	caG/caT	0	1	1	UPI0000062302	0	getma.org/pdb.php?prot=LDHD_HUMAN&from=265&to=506&var=Q450H	ENST00000300051		ENSG00000166816	19708		36	0.965		HGNC	p.Q450H		LDHD		SNV							ENST00000300051	protein_coding	getma.org/?cm=var&var=hg19,16,75146508,C,A&fts=all		Pfam_domain:PF02913,hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF72,Superfamily_domains:SSF55103		Q/H		A	low	1397/2067		getma.org/?cm=msa&ty=f&p=LDHD_HUMAN&rb=265&re=506&var=Q450H	deleterious(0.03)				YES	LDHD,missense_variant,p.Gln450His,ENST00000300051,NM_153486.3;LDHD,missense_variant,p.Gln427His,ENST00000450168,NM_194436.2;ZNRF1,downstream_gene_variant,,ENST00000335325,NM_032268.4;ZNRF1,downstream_gene_variant,,ENST00000320619,;ZNRF1,downstream_gene_variant,,ENST00000567962,;ZNRF1,downstream_gene_variant,,ENST00000568351,;RP11-252E2.1,upstream_gene_variant,,ENST00000499110,;ZNRF1,downstream_gene_variant,,ENST00000564320,;ZNRF1,downstream_gene_variant,,ENST00000568844,;ZNRF1,downstream_gene_variant,,ENST00000566244,;ZNRF1,downstream_gene_variant,,ENST00000568494,;LDHD,downstream_gene_variant,,ENST00000568164,;LDHD,downstream_gene_variant,,ENST00000569876,;							MODERATE	1350/1524	Q450H	LDHD_HUMAN			Transcript		benign(0.021)	.	ENSP00000300051		CCDS10913.1			1	
SLC4A8	0	LGGM	GRCh37	12	51883499	51883499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	3	.	.	ENST00000453097.2:c.2464C>A	p.His822Asn	p.H822N	ENST00000453097	NM_001039960.2	822	Cac/Aac	0	1	1	UPI00005E6FB4	0	NA	ENST00000453097		ENSG00000050438	11034		43	2.635		HGNC	p.H822N		SLC4A8		SNV							ENST00000453097	protein_coding	getma.org/?cm=var&var=hg19,12,51883499,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834,Prints_domain:PR01231		H/N		A	medium	2681/4395		getma.org/?cm=msa&ty=f&p=S4A8_HUMAN&rb=444&re=958&var=H822N	deleterious(0)				YES	SLC4A8,missense_variant,p.His822Asn,ENST00000453097,NM_001039960.2,NM_001258401.2;SLC4A8,missense_variant,p.His849Asn,ENST00000358657,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,upstream_gene_variant,,ENST00000548616,;							MODERATE	2464/3282	H822N	S4A8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000405812		CCDS44890.1			1	
COL6A6	0	LGGM	GRCh37	3	130313164	130313164	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	18	3	.	.	ENST00000358511.6:c.4510G>A	p.Ala1504Thr	p.A1504T	ENST00000358511	NM_001102608.1	1504	Gca/Aca	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		21	0.695		HGNC	p.A1504T		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130313164,G,A&fts=all		hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992		A/T		A	neutral	4541/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1451&re=1510&var=A1504T	tolerated(0.2)				YES	COL6A6,missense_variant,p.Ala1504Thr,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Ala1504Thr,ENST00000453409,;COL6A6,downstream_gene_variant,,ENST00000511332,;COL6A6,missense_variant,p.Ala282Thr,ENST00000506143,;							MODERATE	4510/6792	A1504T	CO6A6_HUMAN			Transcript		benign(0.008)	.	ENSP00000351310		CCDS46911.1			1	
TPO	0	LGGM	GRCh37	2	1499884	1499884	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	25	3	.	.	ENST00000345913.4:c.2130A>G	p.Gln710=	p.Q710=	ENST00000345913	NM_000547.5	710	caA/caG	0	1		UPI000013D480	0		ENST00000329066		ENSG00000115705	12015		28			HGNC	p.Q710Q		TPO		SNV			1				ENST00000345913	protein_coding			PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		Q		G		2213/3138				Q53QT2_HUMAN,C9J511_HUMAN				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.=,ENST00000337415,;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.=,ENST00000446278,;TPO,synonymous_variant,p.=,ENST00000469607,;TPO,intron_variant,,ENST00000497517,;TPO,intron_variant,,ENST00000462973,;							LOW	2130/2802		PERT_HUMAN			Transcript			.	ENSP00000329869		CCDS1643.1			1	
ACTG2	0	LGGM	GRCh37	2	74141926	74141926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	43	3	.	.	ENST00000409624.1:c.733G>T	p.Asp245Tyr	p.D245Y	ENST00000409624		245	Gat/Tat	0	1		UPI0000000CCB	0	getma.org/pdb.php?prot=ACTH_HUMAN&from=3&to=376&var=D245Y	ENST00000345517		ENSG00000163017	145		46	5.375		HGNC	p.D202Y		ACTG2		SNV			1				ENST00000409731	protein_coding	getma.org/?cm=var&var=hg19,2,74141926,G,T&fts=all		hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Gene3D:3.90.640.10,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190		D/Y		T	high	842/1530		getma.org/?cm=msa&ty=f&p=ACTH_HUMAN&rb=3&re=376&var=D245Y	deleterious_low_confidence(0)	Q562S2_HUMAN				ACTG2,missense_variant,p.Asp245Tyr,ENST00000409624,;ACTG2,missense_variant,p.Asp245Tyr,ENST00000345517,NM_001615.3;ACTG2,missense_variant,p.Asp202Tyr,ENST00000409731,NM_001199893.1;ACTG2,3_prime_UTR_variant,,ENST00000438902,;ACTG2,downstream_gene_variant,,ENST00000429756,;							MODERATE	733/1131	D245Y	ACTH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295137		CCDS1930.1			1	
CNOT1	0	LGGM	GRCh37	16	58572121	58572121	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	41	3	.	.	ENST00000317147.5:c.5185G>T	p.Glu1729Ter	p.E1729*	ENST00000317147	NM_016284.4	1729	Gag/Tag	0	1	1	UPI00001FF2F6	0	NA	ENST00000317147		ENSG00000125107	7877		44	0		HGNC	p.E1724X		CNOT1		SNV							ENST00000567188	protein_coding	getma.org/?cm=var&var=hg19,16,58572121,C,A&fts=all		hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162		E/*		A	NA	5518/8471		NA		H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN			YES	CNOT1,stop_gained,p.Glu1729Ter,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,stop_gained,p.Glu1724Ter,ENST00000569240,;CNOT1,stop_gained,p.Glu580Ter,ENST00000245138,;CNOT1,stop_gained,p.Glu102Ter,ENST00000568917,;CNOT1,stop_gained,p.Glu1724Ter,ENST00000567188,;CNOT1,non_coding_transcript_exon_variant,,ENST00000563283,;CNOT1,downstream_gene_variant,,ENST00000566240,;							HIGH	5185/7131	E1729*	CNOT1_HUMAN			Transcript			.	ENSP00000320949		CCDS10799.1			1	
PRR13	0	LGGM	GRCh37	12	53837400	53837400	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	3	.	.	ENST00000429243.2:c.245C>A	p.Pro82Gln	p.P82Q	ENST00000429243	NM_018457.3	82	cCa/cAa	0	1	1	UPI000004A08A	0	NA	ENST00000429243		ENSG00000205352	24528		24	2.16		HGNC	p.P50Q		PRR13		SNV							ENST00000551003	protein_coding	getma.org/?cm=var&var=hg19,12,53837400,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	medium	453/1229		getma.org/?cm=msa&ty=f&p=PRR13_HUMAN&rb=1&re=148&var=P82Q	deleterious_low_confidence(0)	F8W1R5_HUMAN			YES	PRR13,missense_variant,p.Pro82Gln,ENST00000429243,NM_018457.3,NM_001005354.2;PRR13,missense_variant,p.Pro50Gln,ENST00000551003,;PRR13,missense_variant,p.Pro32Gln,ENST00000379786,;PRR13,missense_variant,p.Pro32Gln,ENST00000549581,;PRR13,missense_variant,p.Pro82Gln,ENST00000549740,;PRR13,missense_variant,p.Pro82Gln,ENST00000549135,;PRR13,missense_variant,p.Pro96Gln,ENST00000547368,;PRR13,missense_variant,p.Pro82Gln,ENST00000549924,;PRR13,synonymous_variant,p.=,ENST00000549068,;PCBP2,5_prime_UTR_variant,,ENST00000541275,;PRR13,intron_variant,,ENST00000546581,;PRR13,downstream_gene_variant,,ENST00000551945,;RP11-793H13.8,non_coding_transcript_exon_variant,,ENST00000547717,;PRR13,downstream_gene_variant,,ENST00000551365,;PRR13,downstream_gene_variant,,ENST00000552846,;							MODERATE	245/447	P82Q	PRR13_HUMAN			Transcript		unknown(0)	.	ENSP00000412064		CCDS44899.1			1	
SPIDR	0	LGGM	GRCh37	8	48626142	48626142	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	45	3	.	.	ENST00000297423.4:c.2280C>A	p.Gly760=	p.G760=	ENST00000297423	NM_001080394.2	760	ggC/ggA	0	1	1	UPI0000253B92	0		ENST00000297423		ENSG00000164808	28971		48			HGNC	p.G265G		SPIDR		SNV							ENST00000519141	protein_coding			Pfam_domain:PF14951		G		A		2664/3988				E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN			YES	SPIDR,synonymous_variant,p.=,ENST00000297423,NM_001080394.2;SPIDR,synonymous_variant,p.=,ENST00000518074,NM_001282919.1;SPIDR,synonymous_variant,p.=,ENST00000541342,NM_001282916.1;SPIDR,synonymous_variant,p.=,ENST00000519401,;SPIDR,synonymous_variant,p.=,ENST00000517693,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519141,;SPIDR,non_coding_transcript_exon_variant,,ENST00000522321,;SPIDR,downstream_gene_variant,,ENST00000521550,;SPIDR,downstream_gene_variant,,ENST00000518692,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519362,;SPIDR,downstream_gene_variant,,ENST00000524141,;							LOW	2280/2748		SPIDR_HUMAN			Transcript			.	ENSP00000297423		CCDS43737.1			1	
RPA1	0	LGGM	GRCh37	17	1792037	1792037	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000254719.5:c.1443C>T	p.Cys481=	p.C481=	ENST00000254719	NM_002945.3	481	tgC/tgT	0	1	1	UPI000013379A	0		ENST00000254719		ENSG00000132383	10289		36			HGNC	p.C481C		RPA1		SNV							ENST00000254719	protein_coding			Gene3D:2.40.50.140,Pfam_domain:PF08646,hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF0,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00617		C		T		1553/4340				I3L524_HUMAN,I3L2M5_HUMAN			YES	RPA1,synonymous_variant,p.=,ENST00000254719,NM_002945.3;RPA1,intron_variant,,ENST00000574049,;RPA1,upstream_gene_variant,,ENST00000573994,;							LOW	1443/1851		RFA1_HUMAN			Transcript			.	ENSP00000254719		CCDS11014.1			1	
TMEM97	0	LGGM	GRCh37	17	26653715	26653715	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	41	3	.	.	ENST00000226230.6:c.427C>A	p.Leu143Ile	p.L143I	ENST00000226230	NM_014573.2	143	Ctt/Att	0	1	1	UPI00004EA896	0	NA	ENST00000226230		ENSG00000109084	28106		44	2.725		HGNC	p.L85I		TMEM97		SNV							ENST00000582384	protein_coding	getma.org/?cm=var&var=hg19,17,26653715,C,A&fts=all		Pfam_domain:PF10914,PIRSF_domain:PIRSF031032,hmmpanther:PTHR31204,hmmpanther:PTHR31204:SF1,Transmembrane_helices:TMhelix		L/I		A	medium	572/2564		getma.org/?cm=msa&ty=f&p=TMM97_HUMAN&rb=11&re=166&var=L143I	deleterious(0.01)	Q86XC5_HUMAN,B4DDT6_HUMAN			YES	TMEM97,missense_variant,p.Leu143Ile,ENST00000226230,NM_014573.2;TMEM97,missense_variant,p.Leu36Ile,ENST00000336687,;TMEM97,missense_variant,p.Leu85Ile,ENST00000582384,;TMEM97,missense_variant,p.Leu36Ile,ENST00000583381,;IFT20,downstream_gene_variant,,ENST00000585089,NM_001267774.1;IFT20,downstream_gene_variant,,ENST00000357896,NM_174887.3;IFT20,downstream_gene_variant,,ENST00000585313,NM_001267775.1;IFT20,downstream_gene_variant,,ENST00000578122,;IFT20,downstream_gene_variant,,ENST00000578985,;IFT20,downstream_gene_variant,,ENST00000395418,NM_001267776.1;IFT20,downstream_gene_variant,,ENST00000579419,NM_001267777.1;IFT20,downstream_gene_variant,,ENST00000578009,NM_001267778.1;IFT20,downstream_gene_variant,,ENST00000577498,;TMEM97,downstream_gene_variant,,ENST00000582113,;IFT20,downstream_gene_variant,,ENST00000583796,;IFT20,downstream_gene_variant,,ENST00000582797,;IFT20,downstream_gene_variant,,ENST00000578547,;IFT20,downstream_gene_variant,,ENST00000322326,;IFT20,downstream_gene_variant,,ENST00000580357,;IFT20,downstream_gene_variant,,ENST00000580991,;							MODERATE	427/531	L143I	TMM97_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000226230		CCDS11226.2			1	
DOPEY2	0	LGGM	GRCh37	21	37603012	37603012	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	3	.	.	ENST00000399151.3:c.1930G>T	p.Gly644Ter	p.G644*	ENST00000399151	NM_005128.2	644	Gga/Tga	0	1	1	UPI000013D876	0	NA	ENST00000399151		ENSG00000142197	1291		43	0		HGNC	p.G644X		DOPEY2		SNV							ENST00000399151	protein_coding	getma.org/?cm=var&var=hg19,21,37603012,G,T&fts=all		hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042		G/*		T	NA	2015/7685		NA		F8W8U9_HUMAN			YES	DOPEY2,stop_gained,p.Gly644Ter,ENST00000399151,NM_005128.2;							HIGH	1930/6897	G644*	DOP2_HUMAN			Transcript			.	ENSP00000382104		CCDS13643.1			1	
FABP7	0	LGGM	GRCh37	6	123101448	123101448	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	35	3	.	.	ENST00000368444.3:c.86C>T	p.Ala29Val	p.A29V	ENST00000368444	NM_001446.3	29	gCc/gTc	0	1	1	UPI000013E3A9	0	getma.org/pdb.php?prot=FABP7_HUMAN&from=7&to=132&var=A29V	ENST00000368444		ENSG00000164434	3562		38	1.295		HGNC	p.A29V		FABP7		SNV							ENST00000368444	protein_coding	getma.org/?cm=var&var=hg19,6,123101448,C,T&fts=all		hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF57,Gene3D:2.40.128.20,Pfam_domain:PF00061,Superfamily_domains:SSF50814		A/V		T	low	406/1026		getma.org/?cm=msa&ty=f&p=FABP7_HUMAN&rb=7&re=132&var=A29V	deleterious(0.02)				YES	FABP7,missense_variant,p.Ala29Val,ENST00000356535,;FABP7,missense_variant,p.Ala29Val,ENST00000368444,NM_001446.3;							MODERATE	86/399	A29V	FABP7_HUMAN			Transcript		benign(0.257)	.	ENSP00000357429		CCDS5127.1			1	
CEP128	0	LGGM	GRCh37	14	81251761	81251761	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	3	.	.	ENST00000555265.1:c.1689G>T	p.Lys563Asn	p.K563N	ENST00000555265		563	aaG/aaT	0	1		UPI000022982E	0	NA	ENST00000281129		ENSG00000100629	20359		45	1.935		HGNC	p.K563N		CEP128		SNV							ENST00000281129	protein_coding	getma.org/?cm=var&var=hg19,14,81251761,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF149,hmmpanther:PTHR18937		K/N		A	medium	1860/4461		getma.org/?cm=msa&ty=f&p=CE128_HUMAN&rb=401&re=600&var=K563N	deleterious(0)	Q9NS50_HUMAN,Q9HCB0_HUMAN,Q86TS1_HUMAN,G3V3U2_HUMAN,G3V3F4_HUMAN				CEP128,missense_variant,p.Lys563Asn,ENST00000555265,;CEP128,missense_variant,p.Lys563Asn,ENST00000281129,NM_152446.3;CEP128,missense_variant,p.Lys255Asn,ENST00000554502,;							MODERATE	1689/3285	K563N	CE128_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000281129		CCDS32130.1			1	
ANP32B	0	LGGM	GRCh37	9	100767398	100767398	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	3	.	.	ENST00000339399.4:c.480C>A	p.Ala160=	p.A160=	ENST00000339399	NM_006401.2	160	gcC/gcA	0	1	1	UPI0000125029	0		ENST00000339399		ENSG00000136938	16677		37			HGNC	p.A160A		ANP32B		SNV							ENST00000339399	protein_coding			hmmpanther:PTHR11375,hmmpanther:PTHR11375:SF2		A		A		675/1463				Q5T6W8_HUMAN,Q53F35_HUMAN			YES	ANP32B,synonymous_variant,p.=,ENST00000339399,NM_006401.2;ANP32B,non_coding_transcript_exon_variant,,ENST00000473205,;ANP32B,non_coding_transcript_exon_variant,,ENST00000486769,;							LOW	480/756		AN32B_HUMAN			Transcript			.	ENSP00000345848		CCDS6732.1			1	
IQCF2	0	LGGM	GRCh37	3	51897237	51897237	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	41	3	.	.	ENST00000333127.3:c.346C>A	p.Arg116Ser	p.R116S	ENST00000333127	NM_203424.1	116	Cgc/Agc	0	1	1	UPI000007437F	0	NA	ENST00000333127		ENSG00000184345	31815		44	2.125		HGNC	p.R116S		IQCF2		SNV							ENST00000333127	protein_coding	getma.org/?cm=var&var=hg19,3,51897237,C,A&fts=all		SMART_domains:SM00015,Pfam_domain:PF00612,hmmpanther:PTHR21633,hmmpanther:PTHR21633:SF4,PROSITE_profiles:PS50096		R/S		A	medium	375/578		getma.org/?cm=msa&ty=f&p=IQCF2_HUMAN&rb=80&re=140&var=R116S	deleterious(0.01)				YES	IQCF2,missense_variant,p.Arg116Ser,ENST00000333127,NM_203424.1;IQCF2,non_coding_transcript_exon_variant,,ENST00000429548,;							MODERATE	346/495	R116S	IQCF2_HUMAN			Transcript		benign(0.055)	.	ENSP00000329904		CCDS2835.1			1	
ELN	0	LGGM	GRCh37	7	73458223	73458223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	13	3	.	.	ENST00000252034.7:c.442G>T	p.Gly148Cys	p.G148C	ENST00000252034	NM_000501.3	148	Ggt/Tgt	0	1		UPI0000D61C6B	0	NA	ENST00000358929		ENSG00000049540	3327		16	2.19		HGNC	p.G148C		ELN		SNV			1				ENST00000252034	protein_coding	getma.org/?cm=var&var=hg19,7,73458223,G,T&fts=all		hmmpanther:PTHR24018,hmmpanther:PTHR24018:SF2,Low_complexity_(Seg):seg		G/C		T	medium	533/3674		getma.org/?cm=msa&ty=f&p=ELN_HUMAN&rb=1&re=200&var=G148C	deleterious_low_confidence(0)	Q9UMK5_HUMAN,F8WAH6_HUMAN				ELN,missense_variant,p.Gly148Cys,ENST00000252034,NM_000501.3,NM_001081755.2,NM_001278915.1;ELN,missense_variant,p.Gly148Cys,ENST00000358929,NM_001278939.1;ELN,missense_variant,p.Gly153Cys,ENST00000357036,NM_001081754.2;ELN,missense_variant,p.Gly153Cys,ENST00000429192,NM_001081753.2;ELN,missense_variant,p.Gly148Cys,ENST00000380584,NM_001278916.1;ELN,missense_variant,p.Gly138Cys,ENST00000458204,NM_001278917.1;ELN,missense_variant,p.Gly143Cys,ENST00000414324,NM_001278914.1;ELN,missense_variant,p.Gly148Cys,ENST00000380576,;ELN,missense_variant,p.Gly138Cys,ENST00000380575,NM_001278918.1,NM_001081752.2;ELN,missense_variant,p.Gly136Cys,ENST00000320492,NM_001278913.1;ELN,missense_variant,p.Gly148Cys,ENST00000445912,NM_001278912.1;ELN,missense_variant,p.Gly148Cys,ENST00000320399,;ELN,missense_variant,p.Gly148Cys,ENST00000380562,;ELN,missense_variant,p.Gly136Cys,ENST00000438906,;ELN,missense_variant,p.Gly148Cys,ENST00000417091,;ELN,missense_variant,p.Gly126Cys,ENST00000431562,;ELN,intron_variant,,ENST00000380553,;ELN,intron_variant,,ENST00000438880,;ELN,intron_variant,,ENST00000442310,;ELN,intron_variant,,ENST00000428787,;ELN,3_prime_UTR_variant,,ENST00000419398,;ELN,non_coding_transcript_exon_variant,,ENST00000479432,;ELN,upstream_gene_variant,,ENST00000493839,;ELN,downstream_gene_variant,,ENST00000416107,;ELN,downstream_gene_variant,,ENST00000468517,;ELN,upstream_gene_variant,,ENST00000477397,;ELN,downstream_gene_variant,,ENST00000462506,;ELN,downstream_gene_variant,,ENST00000480728,;ELN,downstream_gene_variant,,ENST00000492003,;ELN,downstream_gene_variant,,ENST00000473323,;							MODERATE	442/2379	G148C				Transcript		unknown(0)	.	ENSP00000351807					1	
ZFPL1	0	LGGM	GRCh37	11	64852670	64852670	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	39	3	.	.	ENST00000294258.3:c.186C>A	p.Ser62Arg	p.S62R	ENST00000294258	NM_006782.3	62	agC/agA	0	1	1	UPI000007347E	0	NA	ENST00000294258		ENSG00000162300	12868		42	1.465		HGNC	p.S62R		ZFPL1		SNV							ENST00000532200	protein_coding	getma.org/?cm=var&var=hg19,11,64852670,C,A&fts=all		Gene3D:3.30.40.10,hmmpanther:PTHR12981,hmmpanther:PTHR12981:SF0		S/R		A	low	338/1369		getma.org/?cm=msa&ty=f&p=ZFPL1_HUMAN&rb=1&re=139&var=S62R	tolerated(0.21)	E9PQ47_HUMAN,E9PNY1_HUMAN			YES	ZFPL1,missense_variant,p.Ser62Arg,ENST00000294258,NM_006782.3;ZFPL1,missense_variant,p.Ser62Arg,ENST00000532200,;ZFPL1,missense_variant,p.Ser62Arg,ENST00000526334,;ZFPL1,missense_variant,p.Ser56Arg,ENST00000526945,;ZFPL1,missense_variant,p.Ser16Arg,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000275517,NM_080668.3;CDCA5,upstream_gene_variant,,ENST00000404147,;VPS51,upstream_gene_variant,,ENST00000528588,;TMEM262,downstream_gene_variant,,ENST00000530719,NM_001282448.1;ZFPL1,downstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000524632,NM_001242631.1;ZFPL1,downstream_gene_variant,,ENST00000526791,;TMEM262,downstream_gene_variant,,ENST00000525544,;ZFPL1,missense_variant,p.Ser62Arg,ENST00000453524,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000533216,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000526289,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000526440,;ZFPL1,intron_variant,,ENST00000531761,;CDCA5,upstream_gene_variant,,ENST00000479032,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000524733,;CDCA5,upstream_gene_variant,,ENST00000527430,;TMEM262,downstream_gene_variant,,ENST00000334821,;ZFPL1,upstream_gene_variant,,ENST00000528123,;CDCA5,upstream_gene_variant,,ENST00000462902,;CDCA5,upstream_gene_variant,,ENST00000533015,;ZFPL1,upstream_gene_variant,,ENST00000530744,;							MODERATE	186/933	S62R	ZFPL1_HUMAN			Transcript		benign(0.065)	.	ENSP00000294258		CCDS8092.1			1	
GRHPR	0	LGGM	GRCh37	9	37425978	37425978	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	35	3	.	.	ENST00000318158.6:c.274G>T	p.Glu92Ter	p.E92*	ENST00000318158	NM_012203.1	92	Gaa/Taa	0	1	1	UPI0000073E2F	0	NA	ENST00000318158		ENSG00000137106	4570		38	0		HGNC	p.E92X		GRHPR		SNV			1				ENST00000377824	protein_coding	getma.org/?cm=var&var=hg19,9,37425978,G,T&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF00389,hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF106,Superfamily_domains:SSF52283		E/*		T	NA	359/1280		NA					YES	GRHPR,stop_gained,p.Glu92Ter,ENST00000607784,;GRHPR,stop_gained,p.Glu92Ter,ENST00000318158,NM_012203.1;GRHPR,non_coding_transcript_exon_variant,,ENST00000493368,;GRHPR,non_coding_transcript_exon_variant,,ENST00000460882,;GRHPR,non_coding_transcript_exon_variant,,ENST00000487399,;GRHPR,intron_variant,,ENST00000491488,;GRHPR,upstream_gene_variant,,ENST00000482603,;GRHPR,non_coding_transcript_exon_variant,,ENST00000377824,;GRHPR,upstream_gene_variant,,ENST00000497693,;GRHPR,upstream_gene_variant,,ENST00000480596,;GRHPR,upstream_gene_variant,,ENST00000494290,;							HIGH	274/987	E92*	GRHPR_HUMAN			Transcript			.	ENSP00000313432		CCDS6609.1			1	
FAM13C	0	LGGM	GRCh37	10	61029693	61029693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	3	.	.	ENST00000373868.2:c.769G>T	p.Ala257Ser	p.A257S	ENST00000373868	NM_198215.3	257	Gcc/Tcc	0	1	1	UPI00001AEA18	0	NA	ENST00000373868		ENSG00000148541	19371		24	2.175		HGNC	p.A278S		FAM13C		SNV							ENST00000277705	protein_coding	getma.org/?cm=var&var=hg19,10,61029693,C,A&fts=all		hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904		A/S		A	medium	857/3327		getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=A257S	deleterious(0.02)	D6RIX4_HUMAN			YES	FAM13C,missense_variant,p.Ala174Ser,ENST00000373867,NM_001166698.1;FAM13C,missense_variant,p.Ala278Ser,ENST00000277705,;FAM13C,missense_variant,p.Ala278Ser,ENST00000442566,;FAM13C,missense_variant,p.Ala257Ser,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.Ala257Ser,ENST00000419214,NM_001001971.2;FAM13C,missense_variant,p.Ala174Ser,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.Ala257Ser,ENST00000435852,;FAM13C,missense_variant,p.Ala257Ser,ENST00000422313,;FAM13C,missense_variant,p.Ala35Ser,ENST00000468696,;FAM13C,intron_variant,,ENST00000489341,;FAM13C,downstream_gene_variant,,ENST00000477101,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,non_coding_transcript_exon_variant,,ENST00000513377,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507568,;							MODERATE	769/1758	A257S	FA13C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362975		CCDS7255.1			1	
SP1	0	LGGM	GRCh37	12	53776934	53776934	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	3	.	.	ENST00000327443.4:c.1203C>A	p.Ile401=	p.I401=	ENST00000327443	NM_138473.2	401	atC/atA	0	1	1	UPI0000135D4E	0		ENST00000327443		ENSG00000185591	11205		36			HGNC	p.I401I		SP1		SNV							ENST00000327443	protein_coding			hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF4,Low_complexity_(Seg):seg		I		A		1301/2846				G5E9M8_HUMAN,Q9NR52_HUMAN,H3BVI2_HUMAN,C4PGM0_HUMAN			YES	SP1,synonymous_variant,p.=,ENST00000426431,NM_003109.1;SP1,synonymous_variant,p.=,ENST00000327443,NM_138473.2,NM_001251825.1;SP1,downstream_gene_variant,,ENST00000548560,;SP1,downstream_gene_variant,,ENST00000551969,;							LOW	1203/2358		SP1_HUMAN			Transcript			.	ENSP00000329357		CCDS8857.1			1	
TTN	0	LGGM	GRCh37	2	179614406	179614406	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	3	.	.	ENST00000589042.1:c.11311+3445G>T		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		43	0		HGNC	p.E4241X		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179614406,C,A&fts=all						A	NA	-/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Glu4241Ter,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,;							MODIFIER	-/103053	E4243*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ARHGEF28	0	LGGM	GRCh37	5	73069860	73069860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	39	3	.	.	ENST00000545377.1:c.656C>A	p.Thr219Lys	p.T219K	ENST00000545377	NM_001080479.2	219	aCa/aAa	0	1		UPI0001AE73FF	0	NA	ENST00000426542		ENSG00000214944	30322		42	1.39		HGNC	p.T219K		ARHGEF28		SNV							ENST00000437974	protein_coding	getma.org/?cm=var&var=hg19,5,73069860,C,A&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4		T/K		A	low	676/6118		getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=201&re=400&var=T219K	tolerated(0.07)	D6RAP0_HUMAN				ARHGEF28,missense_variant,p.Thr219Lys,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Thr219Lys,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Thr219Lys,ENST00000287898,;ARHGEF28,missense_variant,p.Thr219Lys,ENST00000426542,;ARHGEF28,missense_variant,p.Thr219Lys,ENST00000437974,;ARHGEF28,missense_variant,p.Thr219Lys,ENST00000296794,;CTC-575I10.1,downstream_gene_variant,,ENST00000506717,;							MODERATE	656/5118	T219K	ARG28_HUMAN			Transcript		benign(0.169)	.	ENSP00000412175		CCDS54870.1			1	
TENM2	0	LGGM	GRCh37	5	167303124	167303124	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	3	.	.	ENST00000518659.1:c.636C>A	p.Thr212=	p.T212=	ENST00000518659	NM_001122679.1	212	acC/acA	0	1	1	UPI0001C48FC2	0		ENST00000518659		ENSG00000145934	29943		40			HGNC	p.T45T		TENM2		SNV							ENST00000403607	protein_coding			Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8		T		A		675/8550				G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,synonymous_variant,p.=,ENST00000519204,;TENM2,synonymous_variant,p.=,ENST00000403607,;TENM2,synonymous_variant,p.=,ENST00000518659,NM_001122679.1;TENM2,synonymous_variant,p.=,ENST00000545108,;TENM2,intron_variant,,ENST00000520394,;TENM2,non_coding_transcript_exon_variant,,ENST00000520393,;TENM2,non_coding_transcript_exon_variant,,ENST00000517586,;							LOW	636/8325		TEN2_HUMAN			Transcript			.	ENSP00000429430					1	
SLBP	0	LGGM	GRCh37	4	1701760	1701760	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	3	.	.	ENST00000489418.1:c.319G>T	p.Glu107Ter	p.E107*	ENST00000489418	NM_006527.2	107	Gag/Tag	0	1	1	UPI0000135A0D	0	NA	ENST00000489418		ENSG00000163950	10904		43	0		HGNC	p.E68X		SLBP		SNV							ENST00000429429	protein_coding	getma.org/?cm=var&var=hg19,4,1701760,C,A&fts=all		hmmpanther:PTHR17408,hmmpanther:PTHR17408:SF4,Low_complexity_(Seg):seg		E/*		A	NA	686/1977		NA		Q53XR2_HUMAN,B3KSC5_HUMAN			YES	SLBP,stop_gained,p.Glu107Ter,ENST00000489418,NM_006527.2;SLBP,stop_gained,p.Glu114Ter,ENST00000318386,;SLBP,stop_gained,p.Glu68Ter,ENST00000429429,;SLBP,stop_gained,p.Glu62Ter,ENST00000483348,;SLBP,stop_gained,p.Glu72Ter,ENST00000488267,;SLBP,stop_gained,p.Glu115Ter,ENST00000480936,;							HIGH	319/813	E107*	SLBP_HUMAN			Transcript			.	ENSP00000417686		CCDS3350.1			1	
GTSE1	0	LGGM	GRCh37	22	46712090	46712090	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	32	3	.	.	ENST00000454366.1:c.1213C>A	p.Leu405Met	p.L405M	ENST00000454366	NM_016426.6	405	Ctg/Atg	0	1	1	UPI000021D19B	0	NA	ENST00000454366		ENSG00000075218	13698		35	0		HGNC	p.L405M		GTSE1		SNV							ENST00000454366	protein_coding	getma.org/?cm=var&var=hg19,22,46712090,C,A&fts=all		hmmpanther:PTHR21584:SF8,hmmpanther:PTHR21584		L/M		A	neutral	1425/3112		getma.org/?cm=msa&ty=f&p=GTSE1_HUMAN&rb=201&re=400&var=L386M	tolerated(0.22)				YES	GTSE1,missense_variant,p.Leu405Met,ENST00000454366,NM_016426.6;GTSE1,non_coding_transcript_exon_variant,,ENST00000466510,;GTSE1,non_coding_transcript_exon_variant,,ENST00000479645,;							MODERATE	1213/2220	L386M	GTSE1_HUMAN			Transcript		benign(0.346)	.	ENSP00000415430		CCDS14074.2			1	
DDX46	0	LGGM	GRCh37	5	134126163	134126163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	18	3	.	.	ENST00000354283.4:c.1547G>T	p.Arg516Leu	p.R516L	ENST00000354283		516	cGg/cTg	0	1	1	UPI0000072E73	0	getma.org/pdb.php?prot=DDX46_HUMAN&from=396&to=570&var=R516L	ENST00000354283		ENSG00000145833	18681		21	0.26		HGNC	p.R516L		DDX46		SNV							ENST00000354283	protein_coding	getma.org/?cm=var&var=hg19,5,134126163,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF158,SMART_domains:SM00487,Superfamily_domains:SSF52540		R/L		T	neutral	1682/3821		getma.org/?cm=msa&ty=f&p=DDX46_HUMAN&rb=396&re=570&var=R516L	deleterious(0)				YES	DDX46,missense_variant,p.Arg516Leu,ENST00000452510,NM_014829.2;DDX46,missense_variant,p.Arg516Leu,ENST00000354283,;DDX46,non_coding_transcript_exon_variant,,ENST00000509178,;DDX46,3_prime_UTR_variant,,ENST00000507392,;DDX46,3_prime_UTR_variant,,ENST00000513592,;DDX46,non_coding_transcript_exon_variant,,ENST00000503946,;							MODERATE	1547/3096	R516L	DDX46_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000346236		CCDS34240.1			1	
DYTN	0	LGGM	GRCh37	2	207564548	207564548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	3	.	.	ENST00000452335.2:c.622C>A	p.Leu208Met	p.L208M	ENST00000452335	NM_001093730.1	208	Ctg/Atg	0	1	1	UPI0000EE0AB9	0	getma.org/pdb.php?prot=DYTN_HUMAN&from=123&to=217&var=L208M	ENST00000452335		ENSG00000232125	23279		40	1.5		HGNC	p.L208M		DYTN		SNV							ENST00000452335	protein_coding	getma.org/?cm=var&var=hg19,2,207564548,G,T&fts=all		Superfamily_domains:SSF57850,Superfamily_domains:SSF47473,Pfam_domain:PF09069,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237		L/M		T	low	739/2051		getma.org/?cm=msa&ty=f&p=DYTN_HUMAN&rb=123&re=217&var=L208M	deleterious(0)				YES	DYTN,missense_variant,p.Leu208Met,ENST00000452335,NM_001093730.1;Y_RNA,downstream_gene_variant,,ENST00000384589,;DYTN,non_coding_transcript_exon_variant,,ENST00000477734,;							MODERATE	622/1737	L208M	DYTN_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000396593		CCDS46502.1			1	
CTSZ	0	LGGM	GRCh37	20	57576696	57576696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	6	3	.	.	ENST00000217131.5:c.311G>T	p.Arg104Leu	p.R104L	ENST00000217131	NM_001336.3	104	cGg/cTg	0	1	1	UPI000000D9CC	0	getma.org/pdb.php?prot=CATZ_HUMAN&from=62&to=296&var=R104L	ENST00000217131		ENSG00000101160	2547		9	2.645		HGNC	p.R104L		CTSZ		SNV							ENST00000217131	protein_coding	getma.org/?cm=var&var=hg19,20,57576696,C,A&fts=all		hmmpanther:PTHR12411:SF14,hmmpanther:PTHR12411,Gene3D:3.90.70.10,Pfam_domain:PF00112,SMART_domains:SM00645,Superfamily_domains:SSF54001		R/L		A	medium	430/1495		getma.org/?cm=msa&ty=f&p=CATZ_HUMAN&rb=62&re=296&var=R104L	deleterious(0)				YES	CTSZ,missense_variant,p.Arg104Leu,ENST00000217131,NM_001336.3;CTSZ,non_coding_transcript_exon_variant,,ENST00000503833,;CTSZ,non_coding_transcript_exon_variant,,ENST00000488395,;CTSZ,downstream_gene_variant,,ENST00000472025,;							MODERATE	311/912	R104L	CATZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000217131		CCDS13474.1			1	
PTCHD3	0	LGGM	GRCh37	10	27687699	27687699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	55	4	.	.	ENST00000438700.3:c.1828G>T	p.Val610Phe	p.V610F	ENST00000438700	NM_001034842.3	610	Gtt/Ttt	0	1	1	UPI000004E892	0	NA	ENST00000438700		ENSG00000182077	24776		59	0		HGNC	p.V610F		PTCHD3		SNV							ENST00000438700	protein_coding	getma.org/?cm=var&var=hg19,10,27687699,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460		V/F		A	neutral	1946/2529		getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=V610F	tolerated(0.09)	I0CMK0_HUMAN			YES	PTCHD3,missense_variant,p.Val610Phe,ENST00000438700,NM_001034842.3;							MODERATE	1828/2304	V610F	PTHD3_HUMAN			Transcript		benign(0.06)	.	ENSP00000417658		CCDS31173.1			1	
PUS7L	0	LGGM	GRCh37	12	44125516	44125516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	4	.	.	ENST00000416848.2:c.1771A>G	p.Ile591Val	p.I591V	ENST00000416848	NM_001098615.1	591	Ata/Gta	0	1		UPI0000037C53	0	getma.org/pdb.php?prot=PUS7L_HUMAN&from=263&to=696&var=I591V	ENST00000344862		ENSG00000129317	25276		25	2.19		HGNC	p.I591V		PUS7L		SNV							ENST00000416848	protein_coding	getma.org/?cm=var&var=hg19,12,44125516,T,C&fts=all		PROSITE_profiles:PS50984,hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF5,TIGRFAM_domain:TIGR00094,Pfam_domain:PF01142,PIRSF_domain:PIRSF037016,Superfamily_domains:SSF55120		I/V		C	medium	1875/3974		getma.org/?cm=msa&ty=f&p=PUS7L_HUMAN&rb=263&re=696&var=I591V	deleterious(0.03)	F8VZA0_HUMAN,F8VWC0_HUMAN,F8VW99_HUMAN,F8VP66_HUMAN,B3KUJ1_HUMAN				PUS7L,missense_variant,p.Ile591Val,ENST00000416848,NM_001098615.1;PUS7L,missense_variant,p.Ile591Val,ENST00000344862,NM_031292.4;PUS7L,missense_variant,p.Ile591Val,ENST00000551923,NM_001098614.2;PUS7L,missense_variant,p.Ile278Val,ENST00000431332,NM_001271826.1;RP11-210N13.1,upstream_gene_variant,,ENST00000552999,;							MODERATE	1771/2106	I591V	PUS7L_HUMAN			Transcript		benign(0.12)	.	ENSP00000343081		CCDS8743.1			1	
PMPCA	0	LGGM	GRCh37	9	139313358	139313358	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	4	.	.	ENST00000371717.3:c.1188C>A	p.Ala396=	p.A396=	ENST00000371717	NM_015160.1	396	gcC/gcA	0	1	1	UPI00000703D3	0		ENST00000371717		ENSG00000165688	18667		25			HGNC	p.A104A		PMPCA		SNV							ENST00000444897	protein_coding			hmmpanther:PTHR11851:SF49,hmmpanther:PTHR11851,Gene3D:3.30.830.10,Pfam_domain:PF05193,Superfamily_domains:SSF63411		A		A		1197/2084				Q9BT52_HUMAN,Q5SXN0_HUMAN			YES	PMPCA,synonymous_variant,p.=,ENST00000371717,NM_015160.1,NM_001282946.1;PMPCA,synonymous_variant,p.=,ENST00000399219,NM_001282944.1;PMPCA,synonymous_variant,p.=,ENST00000444897,;PMPCA,downstream_gene_variant,,ENST00000371720,;PMPCA,non_coding_transcript_exon_variant,,ENST00000462616,;							LOW	1188/1578		MPPA_HUMAN			Transcript			.	ENSP00000360782		CCDS35180.1			1	
TRAF3IP1	0	LGGM	GRCh37	2	239306219	239306219	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	4	.	.	ENST00000373327.4:c.1809C>A	p.Ile603=	p.I603=	ENST00000373327	NM_015650.3	603	atC/atA	0	1	1	UPI0000070E5D	0		ENST00000373327		ENSG00000204104	17861		37			HGNC	p.I537I		TRAF3IP1		SNV							ENST00000391993	protein_coding			hmmpanther:PTHR31363:SF0,hmmpanther:PTHR31363,Pfam_domain:PF10243		I		A		2031/4279							YES	TRAF3IP1,synonymous_variant,p.=,ENST00000373327,NM_015650.3;TRAF3IP1,synonymous_variant,p.=,ENST00000391994,;TRAF3IP1,synonymous_variant,p.=,ENST00000391993,NM_001139490.1;TRAF3IP1,non_coding_transcript_exon_variant,,ENST00000462122,;TRAF3IP1,non_coding_transcript_exon_variant,,ENST00000483951,;							LOW	1809/2076		MIPT3_HUMAN			Transcript			.	ENSP00000362424		CCDS33415.1			1	
STK11IP	0	LGGM	GRCh37	2	220470741	220470741	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	49	4	.	.	ENST00000295641.10:c.842G>T	p.Arg281Leu	p.R281L	ENST00000295641	NM_052902.2	281	cGg/cTg	0	1	1	UPI0001AE7798	0	getma.org/pdb.php?prot=S11IP_HUMAN&from=201&to=400&var=R281L	ENST00000295641		ENSG00000144589	19184		53	0.855		HGNC	p.R281L		STK11IP		SNV							ENST00000295641	protein_coding	getma.org/?cm=var&var=hg19,2,220470741,G,T&fts=all		Superfamily_domains:0046394,Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR15454,hmmpanther:PTHR15454:SF16		R/L		T	low	885/3601		getma.org/?cm=msa&ty=f&p=S11IP_HUMAN&rb=201&re=400&var=R281L	tolerated(0.13)	C9JQV3_HUMAN			YES	STK11IP,missense_variant,p.Arg270Leu,ENST00000456909,;STK11IP,missense_variant,p.Arg281Leu,ENST00000295641,NM_052902.2;STK11IP,upstream_gene_variant,,ENST00000483319,;STK11IP,non_coding_transcript_exon_variant,,ENST00000459692,;STK11IP,downstream_gene_variant,,ENST00000468584,;STK11IP,non_coding_transcript_exon_variant,,ENST00000475396,;STK11IP,non_coding_transcript_exon_variant,,ENST00000465230,;STK11IP,non_coding_transcript_exon_variant,,ENST00000466648,;STK11IP,upstream_gene_variant,,ENST00000473899,;STK11IP,downstream_gene_variant,,ENST00000456857,;STK11IP,downstream_gene_variant,,ENST00000475843,;							MODERATE	842/3300	R281L	S11IP_HUMAN			Transcript		benign(0.256)	.	ENSP00000295641		CCDS46521.1			1	
NEDD4	0	LGGM	GRCh37	15	56208100	56208100	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	65	4	.	.	ENST00000338963.2:c.930G>T	p.Glu310Asp	p.E310D	ENST00000338963	NM_198400.2	310	gaG/gaT	0	1		UPI00001FE52D	0	NA	ENST00000508342		ENSG00000069869	7727		69	1.04		HGNC	p.E310D		NEDD4		SNV							ENST00000338963	protein_coding	getma.org/?cm=var&var=hg19,15,56208100,C,A&fts=all				E/D		A	low	1230/7235		getma.org/?cm=msa&ty=f&p=H0YA37_HUMAN&rb=1&re=200&var=E190D	tolerated_low_confidence(0.24)					NEDD4,missense_variant,p.Glu310Asp,ENST00000508342,NM_001284338.1;NEDD4,missense_variant,p.Glu310Asp,ENST00000338963,NM_198400.2;NEDD4,missense_variant,p.Glu310Asp,ENST00000506154,NM_001284339.1;NEDD4,intron_variant,,ENST00000435532,NM_006154.2;NEDD4,upstream_gene_variant,,ENST00000508871,NM_001284340.1;NEDD4,intron_variant,,ENST00000514893,;NEDD4,missense_variant,p.Glu190Asp,ENST00000503468,;NEDD4,intron_variant,,ENST00000502612,;NEDD4,intron_variant,,ENST00000507063,;							MODERATE	930/3960	E190D	NEDD4_HUMAN			Transcript		benign(0.02)	.	ENSP00000424827		CCDS61644.1			1	
GTF3C1	0	LGGM	GRCh37	16	27475700	27475700	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	48	4	.	.	ENST00000356183.4:c.5813C>A	p.Pro1938Gln	p.P1938Q	ENST00000356183	NM_001520.3	1938	cCa/cAa	0	1	1	UPI00001FF123	0	NA	ENST00000356183		ENSG00000077235	4664		52	1.5		HGNC	p.P1938Q		GTF3C1		SNV							ENST00000356183	protein_coding	getma.org/?cm=var&var=hg19,16,27475700,G,T&fts=all		hmmpanther:PTHR15180		P/Q		T	low	5829/7018		getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=602&re=2107&var=P1938Q	tolerated(0.25)	Q7Z7H4_HUMAN,I3L1Z3_HUMAN			YES	GTF3C1,missense_variant,p.Pro1938Gln,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Pro43Gln,ENST00000569653,;GTF3C1,intron_variant,,ENST00000561623,NM_001286242.1;GTF3C1,upstream_gene_variant,,ENST00000567806,;GTF3C1,non_coding_transcript_exon_variant,,ENST00000562609,;GTF3C1,upstream_gene_variant,,ENST00000564747,;							MODERATE	5813/6330	P1938Q	TF3C1_HUMAN			Transcript		benign(0.202)	.	ENSP00000348510		CCDS32414.1			1	
ZNF624	0	LGGM	GRCh37	17	16526294	16526294	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	83	4	.	.	ENST00000311331.7:c.1906G>T	p.Gly636Ter	p.G636*	ENST00000311331	NM_020787.3	636	Gga/Tga	0	1	1	UPI0000456A22	0	NA	ENST00000311331		ENSG00000197566	29254		87	0		HGNC	p.G636X		ZNF624		SNV							ENST00000311331	protein_coding	getma.org/?cm=var&var=hg19,17,16526294,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF207,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/*		A	NA	1998/4241		NA		J3QKY7_HUMAN,C9J5H1_HUMAN			YES	ZNF624,stop_gained,p.Gly636Ter,ENST00000311331,NM_020787.3;ZNF624,non_coding_transcript_exon_variant,,ENST00000579528,;							HIGH	1906/2598	G636*	ZN624_HUMAN			Transcript			.	ENSP00000310472		CCDS11180.1			1	
CLCN6	0	LGGM	GRCh37	1	11894004	11894004	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	4	.	.	ENST00000346436.6:c.1443C>A	p.Gly481=	p.G481=	ENST00000346436	NM_001286.3	481	ggC/ggA	0	1	1	UPI000013F2D3	0		ENST00000346436		ENSG00000011021	2024		37			HGNC	p.G481G		CLCN6		SNV							ENST00000376496	protein_coding			Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69,Transmembrane_helices:TMhelix		G		A		1495/5583							YES	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,;CLCN6,non_coding_transcript_exon_variant,,ENST00000494028,;CLCN6,downstream_gene_variant,,ENST00000376492,;							LOW	1443/2610		CLCN6_HUMAN			Transcript			.	ENSP00000234488		CCDS138.1			1	
MTRR	0	LGGM	GRCh37	5	7892965	7892965	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	49	4	.	.	ENST00000264668.2:c.1577C>A	p.Ser526Ter	p.S526*	ENST00000264668	NM_024010.2	526	tCa/tAa	0	1	1	UPI000013D550	0	NA	ENST00000264668		ENSG00000124275	7473		53	0		HGNC	p.S526X		MTRR		SNV			1				ENST00000264668	protein_coding	getma.org/?cm=var&var=hg19,5,7892965,C,A&fts=all		PROSITE_profiles:PS51384,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF65		S/*		A	NA	1607/3274		NA		D6RIS8_HUMAN,D6RGC7_HUMAN,D6RAZ2_HUMAN			YES	MTRR,stop_gained,p.Ser526Ter,ENST00000264668,NM_024010.2,NM_002454.2;MTRR,stop_gained,p.Ser499Ter,ENST00000440940,;MTRR,downstream_gene_variant,,ENST00000341013,;MTRR,non_coding_transcript_exon_variant,,ENST00000507414,;MTRR,downstream_gene_variant,,ENST00000508101,;MTRR,downstream_gene_variant,,ENST00000509961,;MTRR,3_prime_UTR_variant,,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,non_coding_transcript_exon_variant,,ENST00000507202,;MTRR,upstream_gene_variant,,ENST00000508354,;MTRR,downstream_gene_variant,,ENST00000512311,;							HIGH	1577/2178	S526*	MTRR_HUMAN			Transcript			.	ENSP00000264668		CCDS3874.1			1	
CYP2A6	0	LGGM	GRCh37	19	41352933	41352933	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	43	4	.	.	ENST00000301141.5:c.678G>T	p.Val226=	p.V226=	ENST00000301141	NM_000762.5	226	gtG/gtT	0	1	1	UPI000013E6D2	0		ENST00000301141		ENSG00000255974	2610		47			HGNC	p.V226V		CYP2A6		SNV			1				ENST00000301141	protein_coding			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR01684		V		A		699/1764							YES	CYP2A6,synonymous_variant,p.=,ENST00000301141,NM_000762.5;CYP2A6,3_prime_UTR_variant,,ENST00000600495,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000596719,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,upstream_gene_variant,,ENST00000599960,;							LOW	678/1485		CP2A6_HUMAN			Transcript			.	ENSP00000301141		CCDS12568.1			1	
LBP	0	LGGM	GRCh37	20	36975024	36975024	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	14	4	.	.	ENST00000217407.2:c.105C>T	p.Thr35=	p.T35=	ENST00000217407	NM_004139.3	35	acC/acT	0	1	1	UPI000013C728	0		ENST00000217407		ENSG00000129988	6517		18			HGNC	p.T35T	COSM4098246	LBP		SNV						1	ENST00000217407	protein_coding			PROSITE_patterns:PS00400,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,SMART_domains:SM00328,Superfamily_domains:SSF55394		T		T		266/1961							YES	LBP,synonymous_variant,p.=,ENST00000217407,NM_004139.3;					1		LOW	105/1446		LBP_HUMAN			Transcript			.	ENSP00000217407		CCDS13304.1			1	
TARBP1	0	LGGM	GRCh37	1	234563068	234563068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	50	4	.	.	ENST00000040877.1:c.3318G>T	p.Met1106Ile	p.M1106I	ENST00000040877	NM_005646.3	1106	atG/atT	0	1	1	UPI000006DB0F	0	NA	ENST00000040877		ENSG00000059588	11568		54	-1.1		HGNC	p.M1106I		TARBP1		SNV							ENST00000040877	protein_coding	getma.org/?cm=var&var=hg19,1,234563068,C,A&fts=all		PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11,Superfamily_domains:SSF48371		M/I		A	neutral	3318/5130		getma.org/?cm=msa&ty=f&p=TARB1_HUMAN&rb=1048&re=1247&var=M1106I	tolerated(1)				YES	TARBP1,missense_variant,p.Met1106Ile,ENST00000040877,NM_005646.3;							MODERATE	3318/4866	M1106I	TARB1_HUMAN			Transcript		benign(0)	.	ENSP00000040877		CCDS1601.1			1	
TP53I11	0	LGGM	GRCh37	11	44956531	44956531	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	4	.	.	ENST00000533940.1:c.474C>A	p.Ser158=	p.S158=	ENST00000533940	NM_001258320.1	158	tcC/tcA	0	1		UPI00001BB8BA	0		ENST00000308212		ENSG00000175274	16842		46			HGNC	p.S158S		TP53I11		SNV							ENST00000525680	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR31584,hmmpanther:PTHR31584:SF1,Pfam_domain:PF14936		S		T		1016/3648				E9PS55_HUMAN,E9PQ46_HUMAN,E9PN66_HUMAN,E9PMW4_HUMAN,E9PKZ4_HUMAN,E9PKN9_HUMAN				TP53I11,synonymous_variant,p.=,ENST00000533940,NM_001258320.1;TP53I11,synonymous_variant,p.=,ENST00000308212,NM_001258321.1;TP53I11,synonymous_variant,p.=,ENST00000395648,NM_001258323.1,NM_001258324.1,NM_001258322.1;TP53I11,synonymous_variant,p.=,ENST00000525680,NM_006034.3;TP53I11,synonymous_variant,p.=,ENST00000528473,;TSPAN18,downstream_gene_variant,,ENST00000340160,NM_130783.4;TSPAN18,downstream_gene_variant,,ENST00000520358,;TSPAN18,downstream_gene_variant,,ENST00000518429,;TP53I11,downstream_gene_variant,,ENST00000531928,;TP53I11,downstream_gene_variant,,ENST00000533443,;TP53I11,downstream_gene_variant,,ENST00000530035,;TP53I11,downstream_gene_variant,,ENST00000533937,;TP53I11,downstream_gene_variant,,ENST00000525683,;TP53I11,downstream_gene_variant,,ENST00000527685,;TP53I11,downstream_gene_variant,,ENST00000528290,;TP53I11,downstream_gene_variant,,ENST00000525138,;TP53I11,downstream_gene_variant,,ENST00000531130,;TP53I11,downstream_gene_variant,,ENST00000533955,;TP53I11,3_prime_UTR_variant,,ENST00000532253,;TP53I11,non_coding_transcript_exon_variant,,ENST00000524774,;TP53I11,intron_variant,,ENST00000354556,;TP53I11,downstream_gene_variant,,ENST00000532921,;TP53I11,downstream_gene_variant,,ENST00000525145,;TP53I11,downstream_gene_variant,,ENST00000525667,;							LOW	474/570		P5I11_HUMAN			Transcript			.	ENSP00000309532		CCDS7911.1			1	
FAT2	0	LGGM	GRCh37	5	150948306	150948306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	82	4	.	.	ENST00000261800.5:c.187G>T	p.Ala63Ser	p.A63S	ENST00000261800	NM_001447.2	63	Gcg/Tcg	0	1	1	UPI0000055B22	0	NA	ENST00000261800		ENSG00000086570	3596		86	0.07		HGNC	p.A63S		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150948306,C,A&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/S		A	neutral	200/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=34&re=148&var=A63S					YES	FAT2,missense_variant,p.Ala63Ser,ENST00000261800,NM_001447.2;							MODERATE	187/13050	A63S	FAT2_HUMAN			Transcript		benign(0.008)	.	ENSP00000261800		CCDS4317.1			1	
NUAK2	0	LGGM	GRCh37	1	205273102	205273102	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	4	.	.	ENST00000367157.3:c.1363C>A	p.Arg455Ser	p.R455S	ENST00000367157	NM_030952.1	455	Cgc/Agc	0	1	1	UPI0000037D77	0	NA	ENST00000367157		ENSG00000163545	29558		46	1.965		HGNC	p.R455S		NUAK2		SNV							ENST00000367157	protein_coding	getma.org/?cm=var&var=hg19,1,205273102,G,T&fts=all		hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF133		R/S		T	medium	1490/3405		getma.org/?cm=msa&ty=f&p=NUAK2_HUMAN&rb=304&re=503&var=R455S	deleterious(0.02)	Q68E04_HUMAN,B4E0Y5_HUMAN			YES	NUAK2,missense_variant,p.Arg455Ser,ENST00000367157,NM_030952.1;							MODERATE	1363/1887	R455S	NUAK2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000356125		CCDS1453.1			1	
TRO	0	LGGM	GRCh37	X	54957326	54957326	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	31	4	.	.	ENST00000173898.7:c.4169C>A	p.Pro1390Gln	p.P1390Q	ENST00000173898	NM_001039705.2	1390	cCg/cAg	0	1	1	UPI000021208F	0	NA	ENST00000173898		ENSG00000067445	12326		35	1.59		HGNC	p.P993Q		TRO		SNV							ENST00000375041	protein_coding	getma.org/?cm=var&var=hg19,X,54957326,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	low	4281/4647		getma.org/?cm=msa&ty=f&p=TROP_HUMAN&rb=711&re=1430&var=P1390Q	deleterious_low_confidence(0.03)	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN			YES	TRO,missense_variant,p.Pro1390Gln,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Pro993Gln,ENST00000375041,NM_001271184.1;TRO,missense_variant,p.Pro921Gln,ENST00000420798,NM_001271183.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000399736,NM_177557.2;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000374992,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,downstream_gene_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,3_prime_UTR_variant,,ENST00000445561,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,downstream_gene_variant,,ENST00000469211,;							MODERATE	4169/4296	P1390Q	TROP_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000173898		CCDS43959.1			1	
ITGA5	0	LGGM	GRCh37	12	54802715	54802715	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	4	.	.	ENST00000293379.4:c.607G>T	p.Gly203Cys	p.G203C	ENST00000293379	NM_002205.2	203	Ggt/Tgt	0	1	1	UPI000012D9F3	0	getma.org/pdb.php?prot=ITA5_HUMAN&from=201&to=325&var=G203C	ENST00000293379		ENSG00000161638	6141		41	3.205		HGNC	p.G203C		ITGA5		SNV							ENST00000293379	protein_coding	getma.org/?cm=var&var=hg19,12,54802715,C,A&fts=all		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF3,Superfamily_domains:SSF69318		G/C		A	medium	869/4444		getma.org/?cm=msa&ty=f&p=ITA5_HUMAN&rb=201&re=325&var=G203C	deleterious(0)				YES	ITGA5,missense_variant,p.Gly203Cys,ENST00000293379,NM_002205.2;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;ITGA5,downstream_gene_variant,,ENST00000547744,;ITGA5,3_prime_UTR_variant,,ENST00000435631,;ITGA5,3_prime_UTR_variant,,ENST00000553071,;ITGA5,upstream_gene_variant,,ENST00000552564,;ITGA5,upstream_gene_variant,,ENST00000550141,;ITGA5,upstream_gene_variant,,ENST00000551861,;							MODERATE	607/3150	G203C	ITA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000293379		CCDS8880.1			1	
SPEN	0	LGGM	GRCh37	1	16257839	16257839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	62	4	.	.	ENST00000375759.3:c.5104C>A	p.Leu1702Met	p.L1702M	ENST00000375759	NM_015001.2	1702	Ctg/Atg	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		66	0.695		HGNC	p.L1702M		SPEN		SNV							ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16257839,C,A&fts=all		hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189		L/M		A	neutral	5308/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=1591&re=1839&var=L1702M					YES	SPEN,missense_variant,p.Leu1702Met,ENST00000375759,NM_015001.2;							MODERATE	5104/10995	L1702M	MINT_HUMAN			Transcript		benign(0.352)	.	ENSP00000364912		CCDS164.1			1	
USP29	0	LGGM	GRCh37	19	57641609	57641609	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	82	4	.	.	ENST00000254181.4:c.1566G>T	p.Leu522=	p.L522=	ENST00000254181	NM_020903.2	522	ctG/ctT	0	1	1	UPI0000137A01	0		ENST00000254181		ENSG00000131864	18563		86			HGNC	p.L522L		USP29		SNV							ENST00000254181	protein_coding			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		L		T		2020/3705				M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,synonymous_variant,p.=,ENST00000254181,NM_020903.2;USP29,synonymous_variant,p.=,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;							LOW	1566/2769		UBP29_HUMAN			Transcript			.	ENSP00000254181		CCDS33124.1			1	
APTX	0	LGGM	GRCh37	9	32989823	32989823	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	4	.	.	ENST00000379813.3:c.67G>T	p.Glu23Ter	p.E23*	ENST00000379813		23	Gaa/Taa	0	1		UPI00001AE449	0	NA	ENST00000379819		ENSG00000137074	15984		44	0		HGNC	p.E23X		APTX		SNV			1				ENST00000495360	protein_coding	getma.org/?cm=var&var=hg19,9,32989823,C,A&fts=all		Superfamily_domains:SSF49879,Gene3D:2.60.200.20,hmmpanther:PTHR12486:SF4,hmmpanther:PTHR12486		E/*		A	NA	109/1820		NA		F5HRF8_HUMAN				APTX,stop_gained,p.Glu23Ter,ENST00000379817,;APTX,stop_gained,p.Glu37Ter,ENST00000379825,;APTX,stop_gained,p.Glu37Ter,ENST00000309615,NM_175069.2,NM_175073.2,NM_001195248.1,NM_001195251.1;APTX,stop_gained,p.Glu23Ter,ENST00000436040,;APTX,stop_gained,p.Glu37Ter,ENST00000379819,;APTX,stop_gained,p.Glu37Ter,ENST00000397172,NM_001195252.1;APTX,stop_gained,p.Glu23Ter,ENST00000468275,;APTX,stop_gained,p.Glu23Ter,ENST00000463596,NM_001195249.1;APTX,stop_gained,p.Glu23Ter,ENST00000379813,;APTX,stop_gained,p.Glu37Ter,ENST00000476858,NM_001195250.1;APTX,stop_gained,p.Glu37Ter,ENST00000473221,;APTX,stop_gained,p.Glu37Ter,ENST00000379812,;APTX,stop_gained,p.Glu23Ter,ENST00000477119,;APTX,non_coding_transcript_exon_variant,,ENST00000460945,;APTX,upstream_gene_variant,,ENST00000486724,;APTX,stop_gained,p.Glu23Ter,ENST00000467331,;APTX,stop_gained,p.Glu23Ter,ENST00000494649,;APTX,stop_gained,p.Glu23Ter,ENST00000465003,;APTX,stop_gained,p.Glu23Ter,ENST00000485479,;APTX,stop_gained,p.Glu23Ter,ENST00000479656,;APTX,stop_gained,p.Glu23Ter,ENST00000482687,;APTX,stop_gained,p.Glu23Ter,ENST00000460940,;APTX,stop_gained,p.Glu23Ter,ENST00000483148,;APTX,stop_gained,p.Glu23Ter,ENST00000472896,;APTX,stop_gained,p.Glu23Ter,ENST00000495360,;APTX,stop_gained,p.Glu29Ter,ENST00000474658,;APTX,stop_gained,p.Glu37Ter,ENST00000478279,;APTX,stop_gained,p.Glu37Ter,ENST00000464632,;APTX,stop_gained,p.Glu23Ter,ENST00000480031,;APTX,non_coding_transcript_exon_variant,,ENST00000494973,;APTX,upstream_gene_variant,,ENST00000496030,;							HIGH	109/1071	E37*	APTX_HUMAN			Transcript			.	ENSP00000369147					1	
GCNT2	0	LGGM	GRCh37	6	10557085	10557085	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	80	4	.	.	ENST00000379597.3:c.925+27016C>A		*309*	ENST00000379597				0	1	1	UPI000006E705	0	getma.org/pdb.php?prot=GNT2B_HUMAN&from=95&to=356&var=S143R	ENST00000379597		ENSG00000111846	4204		84	1.985		HGNC	p.S143R		GCNT2		SNV			1				ENST00000316170	protein_coding	getma.org/?cm=var&var=hg19,6,10557085,C,A&fts=all						A	medium	-/4525		getma.org/?cm=msa&ty=f&p=GNT2B_HUMAN&rb=95&re=356&var=S143R		Q8N7N7_HUMAN,Q08M29_HUMAN			YES	GCNT2,missense_variant,p.Ser143Arg,ENST00000316170,NM_001491.2;GCNT2,intron_variant,,ENST00000379597,;GCNT2,intron_variant,,ENST00000495262,NM_145649.4;GCNT2,intron_variant,,ENST00000410107,;GCNT2,non_coding_transcript_exon_variant,,ENST00000459872,;GCNT2,intron_variant,,ENST00000397423,;GCNT2,intron_variant,,ENST00000489225,;GCNT2,intron_variant,,ENST00000485764,;GCNT2,intron_variant,,ENST00000474518,;GCNT2,intron_variant,,ENST00000475577,;GCNT2,intron_variant,,ENST00000489819,;GCNT2,intron_variant,,ENST00000461400,;							MODIFIER	-/1209	S143R	GNT2A_HUMAN			Transcript			.	ENSP00000368917		CCDS34338.1			1	
RGL1	0	LGGM	GRCh37	1	183861224	183861224	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	36	4	.	.	ENST00000304685.4:c.1174A>C	p.Met392Leu	p.M392L	ENST00000304685	NM_015149.3	392	Atg/Ctg	0	1		UPI0000133816	0	getma.org/pdb.php?prot=RGL1_HUMAN&from=229&to=450&var=M357L	ENST00000360851		ENSG00000143344	30281		40	-0.375		HGNC	p.M355L		RGL1		SNV							ENST00000536277	protein_coding	getma.org/?cm=var&var=hg19,1,183861224,A,C&fts=all		Superfamily_domains:0041591,Gene3D:2ii0A02,Pfam_domain:PF00617,PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF199,SMART_domains:SM00147		M/L		C	neutral	1247/4724		getma.org/?cm=msa&ty=f&p=RGL1_HUMAN&rb=229&re=450&var=M357L	tolerated(0.21)					RGL1,missense_variant,p.Met392Leu,ENST00000304685,NM_015149.3;RGL1,missense_variant,p.Met357Leu,ENST00000360851,;RGL1,missense_variant,p.Met355Leu,ENST00000536277,;RGL1,missense_variant,p.Met357Leu,ENST00000539189,;							MODERATE	1069/2307	M357L	RGL1_HUMAN			Transcript		benign(0.007)	.	ENSP00000354097					1	
OPRK1	0	LGGM	GRCh37	8	54141997	54141997	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	35	4	.	.	ENST00000265572.3:c.1003G>T	p.Glu335Ter	p.E335*	ENST00000265572	NM_000912.3	335	Gaa/Taa	0	1	1	UPI000011D794	0	NA	ENST00000265572		ENSG00000082556	8154		39	0		HGNC	p.E335X		OPRK1		SNV							ENST00000520287	protein_coding	getma.org/?cm=var&var=hg19,8,54141997,C,A&fts=all		hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF1,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00384,Prints_domain:PR00237		E/*		A	NA	1301/5014		NA					YES	OPRK1,stop_gained,p.Glu335Ter,ENST00000265572,NM_000912.3;OPRK1,stop_gained,p.Glu335Ter,ENST00000520287,;OPRK1,stop_gained,p.Glu246Ter,ENST00000524278,NM_001282904.1;RP11-162D9.3,intron_variant,,ENST00000524425,;OPRK1,3_prime_UTR_variant,,ENST00000522508,;							HIGH	1003/1143	E335*	OPRK_HUMAN			Transcript			.	ENSP00000265572		CCDS6152.1			1	
EIF2B4	0	LGGM	GRCh37	2	27587642	27587642	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	54	4	.	.	ENST00000451130.2:c.1375G>T	p.Glu459Ter	p.E459*	ENST00000451130	NM_172195.3	459	Gaa/Taa	0	1		UPI0000129AB2	0	NA	ENST00000347454		ENSG00000115211	3260		58	0		HGNC	p.E439X		EIF2B4		SNV			1				ENST00000347454	protein_coding	getma.org/?cm=var&var=hg19,2,27587642,C,A&fts=all		hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF14,Pfam_domain:PF01008,Gene3D:3.40.50.10470,Superfamily_domains:SSF100950		E/*		A	NA	1487/1792		NA						EIF2B4,stop_gained,p.Glu460Ter,ENST00000493344,;EIF2B4,stop_gained,p.Glu439Ter,ENST00000347454,NM_015636.3,NM_001034116.1;EIF2B4,stop_gained,p.Glu459Ter,ENST00000451130,NM_172195.3;EIF2B4,stop_gained,p.Glu438Ter,ENST00000445933,;AC074117.10,intron_variant,,ENST00000412749,;AC074117.10,downstream_gene_variant,,ENST00000447070,;EIF2B4,3_prime_UTR_variant,,ENST00000405940,;EIF2B4,non_coding_transcript_exon_variant,,ENST00000478311,;EIF2B4,downstream_gene_variant,,ENST00000475582,;EIF2B4,downstream_gene_variant,,ENST00000462749,;EIF2B4,downstream_gene_variant,,ENST00000417567,;EIF2B4,downstream_gene_variant,,ENST00000418146,;							HIGH	1315/1572	E439*	EI2BD_HUMAN			Transcript			.	ENSP00000233552		CCDS33164.1			1	
FAM177A1	0	LGGM	GRCh37	14	35522493	35522493	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	77	4	.	.	ENST00000280987.4:c.175G>A	p.Glu59Lys	p.E59K	ENST00000280987	NM_173607.3	59	Gaa/Aaa	0	1		UPI000006E43B	0	NA	ENST00000382406		ENSG00000151327	19829		81	0		HGNC	p.E59K	rs773329224	FAM177A1		SNV							ENST00000280987	protein_coding	getma.org/?cm=var&var=hg19,14,35522493,G,A&fts=all		hmmpanther:PTHR31206:SF5,hmmpanther:PTHR31206		E/K		A	neutral	163/858	1.50E-05	getma.org/?cm=msa&ty=f&p=F177A_HUMAN&rb=1&re=211&var=E36K	tolerated(0.18)	G3V583_HUMAN,G3V3Z5_HUMAN				FAM177A1,missense_variant,p.Glu36Lys,ENST00000396472,NM_001079519.1;FAM177A1,missense_variant,p.Glu59Lys,ENST00000280987,NM_173607.3;FAM177A1,missense_variant,p.Glu36Lys,ENST00000382406,;FAM177A1,missense_variant,p.Glu4Lys,ENST00000554794,;FAM177A1,missense_variant,p.Glu36Lys,ENST00000555211,;FAM177A1,downstream_gene_variant,,ENST00000554052,;FAM177A1,3_prime_UTR_variant,,ENST00000553955,;FAM177A1,3_prime_UTR_variant,,ENST00000556858,;FAM177A1,3_prime_UTR_variant,,ENST00000553852,;							MODERATE	106/642	E36K	F177A_HUMAN			Transcript		benign(0.024)	.	ENSP00000371843	8.24E-06	CCDS41944.1			1	
HECTD4	0	LGGM	GRCh37	12	112654678	112654678	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	96	4	.	.	ENST00000550722.1:c.6846C>T	p.Thr2282=	p.T2282=	ENST00000550722	NM_001109662.3	2282	acC/acT	0	1	1	UPI00020CE513	0		ENST00000550722		ENSG00000173064	26611		100			HGNC	p.T2006T	rs771485523	HECTD4		SNV							ENST00000430131	protein_coding			hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254		T		A		7242/15405				F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,synonymous_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,synonymous_variant,p.=,ENST00000430131,;HECTD4,synonymous_variant,p.=,ENST00000377560,;HECTD4,non_coding_transcript_exon_variant,,ENST00000550968,;HECTD4,non_coding_transcript_exon_variant,,ENST00000552437,;	0.000348						LOW	6846/12819			0.000151		Transcript			.	ENSP00000449784	3.31E-05				1	
PCDH18	0	LGGM	GRCh37	4	138451066	138451066	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	55	4	.	.	ENST00000344876.4:c.2177G>T	p.Arg726Leu	p.R726L	ENST00000344876	NM_019035.3	726	cGc/cTc	0	1	1	UPI0000047A88	0	NA	ENST00000344876		ENSG00000189184	14268		59	2.095		HGNC	p.R506L		PCDH18		SNV							ENST00000507846	protein_coding	getma.org/?cm=var&var=hg19,4,138451066,C,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9		R/L		A	medium	2564/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=677&re=876&var=R726L	deleterious(0)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Arg726Leu,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Arg726Leu,ENST00000412923,;PCDH18,missense_variant,p.Arg506Leu,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;							MODERATE	2177/3408	R726L	PCD18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355082		CCDS34064.1			1	
NFYC	0	LGGM	GRCh37	1	41236072	41236072	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	11	5	.	.	ENST00000425457.2:c.946-309A>C		*316*	ENST00000425457	NM_001142588.1			0	1		UPI000012717E	0		ENST00000308733		ENSG00000066136	7806		16			HGNC	p.N298H		NFYC		SNV							ENST00000372652	protein_coding			hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8		N/H		C		955/2158			tolerated_low_confidence(0.14)	Q8TCN9_HUMAN,Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN				NFYC,missense_variant,p.Asn298His,ENST00000372652,;NFYC,missense_variant,p.Asn317His,ENST00000308733,;NFYC,intron_variant,,ENST00000447388,NM_014223.4,NM_001142587.1;NFYC,intron_variant,,ENST00000456393,;NFYC,intron_variant,,ENST00000372653,NM_001142590.1;NFYC,intron_variant,,ENST00000440226,;NFYC,intron_variant,,ENST00000425457,NM_001142588.1;NFYC,intron_variant,,ENST00000372654,;NFYC,intron_variant,,ENST00000427410,NM_001142589.1;NFYC,intron_variant,,ENST00000372651,;NFYC,intron_variant,,ENST00000414185,;NFYC,downstream_gene_variant,,ENST00000372669,;NFYC,downstream_gene_variant,,ENST00000483091,;NFYC,non_coding_transcript_exon_variant,,ENST00000496608,;NFYC,non_coding_transcript_exon_variant,,ENST00000488635,;NFYC,downstream_gene_variant,,ENST00000424419,;NFYC,downstream_gene_variant,,ENST00000525349,;							MODERATE	949/1377		NFYC_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000312617					1	
SPRR2B	0	LGGM	GRCh37	1	153043259	153043259	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	15	5	.	.	ENST00000341611.2:c.57C>A	p.Pro19=	p.P19=	ENST00000341611	NM_001017418.1	19	ccC/ccA	0	1		UPI0000135D6F	0		ENST00000368755		ENSG00000196805	11262		20			HGNC	p.P19P		SPRR2B		SNV							ENST00000368752	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF29,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR01217,Prints_domain:PR00021		P		T		58/617								SPRR2B,synonymous_variant,p.=,ENST00000341611,NM_001017418.1;SPRR2B,synonymous_variant,p.=,ENST00000368755,;SPRR2B,synonymous_variant,p.=,ENST00000368752,;							LOW	57/219		SPR2B_HUMAN			Transcript			.	ENSP00000357744		CCDS30865.1			1	
FAM65A	0	LGGM	GRCh37	16	67579699	67579699	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	17	5	.	.	ENST00000422602.2:c.3383A>C	p.Lys1128Thr	p.K1128T	ENST00000422602	NM_001193523.1	1128	aAg/aCg	0	1		UPI00001C0EC9	0	getma.org/pdb.php?prot=FA65A_HUMAN&from=1080&to=1189&var=K1112T	ENST00000379312		ENSG00000039523	25836		22	1.905		HGNC	p.K1108T		FAM65A		SNV							ENST00000042381	protein_coding	getma.org/?cm=var&var=hg19,16,67579699,A,C&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1,Superfamily_domains:SSF48371		K/T		C	medium	3456/4116		getma.org/?cm=msa&ty=f&p=FA65A_HUMAN&rb=1080&re=1189&var=K1112T	deleterious(0)					FAM65A,missense_variant,p.Lys1127Thr,ENST00000540839,;FAM65A,missense_variant,p.Lys1122Thr,ENST00000428437,NM_001193524.1;FAM65A,missense_variant,p.Lys1112Thr,ENST00000379312,NM_001193522.1,NM_024519.3;FAM65A,missense_variant,p.Lys1108Thr,ENST00000042381,;FAM65A,missense_variant,p.Lys1128Thr,ENST00000422602,NM_001193523.1;FAM65A,missense_variant,p.Lys156Thr,ENST00000568959,;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000569179,;CTD-2012K14.6,downstream_gene_variant,,ENST00000605277,;CTD-2012K14.6,downstream_gene_variant,,ENST00000565929,;CTD-2012K14.3,upstream_gene_variant,,ENST00000563083,;CTD-2012K14.4,upstream_gene_variant,,ENST00000564717,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,non_coding_transcript_exon_variant,,ENST00000565190,;FAM65A,non_coding_transcript_exon_variant,,ENST00000565679,;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,;							MODERATE	3335/3672	K1112T	FA65A_HUMAN			Transcript		benign(0.176)	.	ENSP00000368614		CCDS54028.1			1	
ALMS1	0	LGGM	GRCh37	2	73678723	73678723	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	123	5	.	.	ENST00000264448.6:c.5066A>G	p.Lys1689Arg	p.K1689R	ENST00000264448	NM_015120.4	1689	aAa/aGa	0	1	1	UPI0000212786	0	NA	ENST00000264448		ENSG00000116127	428		128	1.7		HGNC	p.K1647R		ALMS1		SNV			1				ENST00000409009	protein_coding	getma.org/?cm=var&var=hg19,2,73678723,A,G&fts=all				K/R		G	low	5177/12922		getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=K1689R		A6NMY3_HUMAN			YES	ALMS1,missense_variant,p.Lys1689Arg,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Lys1647Arg,ENST00000409009,;ALMS1,missense_variant,p.Lys1689Arg,ENST00000377715,;ALMS1,upstream_gene_variant,,ENST00000484298,;ALMS1,upstream_gene_variant,,ENST00000423048,;							MODERATE	5066/12504	K1689R	ALMS1_HUMAN			Transcript		benign(0.398)	.	ENSP00000264448		CCDS42697.1			1	
SOX11	0	LGGM	GRCh37	2	5833024	5833024	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	7	5	.	.	ENST00000322002.3:c.171G>T	p.Met57Ile	p.M57I	ENST00000322002	NM_003108.3	57	atG/atT	0	1	1	UPI00001362AD	0	getma.org/pdb.php?prot=SOX11_HUMAN&from=49&to=117&var=M57I	ENST00000322002		ENSG00000176887	11191		12	2.155		HGNC	p.M57I		SOX11		SNV			1				ENST00000322002	protein_coding	getma.org/?cm=var&var=hg19,2,5833024,G,T&fts=all		Gene3D:1.10.30.10,Pfam_domain:PF00505,PIRSF_domain:PIRSF038098,PROSITE_profiles:PS50118,hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF113,SMART_domains:SM00398,Superfamily_domains:SSF47095		M/I		T	medium	226/8718		getma.org/?cm=msa&ty=f&p=SOX11_HUMAN&rb=49&re=117&var=M57I	deleterious(0)	Q05CH0_HUMAN			YES	SOX11,missense_variant,p.Met57Ile,ENST00000322002,NM_003108.3;AC010729.1,upstream_gene_variant,,ENST00000455579,;AC108025.2,upstream_gene_variant,,ENST00000453678,;AC107057.2,upstream_gene_variant,,ENST00000458264,;AC108025.2,upstream_gene_variant,,ENST00000420221,;							MODERATE	171/1326	M57I	SOX11_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000322568		CCDS1654.1			1	
DCPS	0	LGGM	GRCh37	11	126201324	126201324	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	59	5	.	.	ENST00000263579.4:c.401C>A	p.Pro134His	p.P134H	ENST00000263579	NM_014026.3	134	cCt/cAt	0	1	1	UPI000006F1CC	0	getma.org/pdb.php?prot=DCPS_HUMAN&from=41&to=146&var=P134H	ENST00000263579		ENSG00000110063	29812		64	3.21		HGNC	p.P134H		DCPS		SNV							ENST00000263579	protein_coding	getma.org/?cm=var&var=hg19,11,126201324,C,A&fts=all		Superfamily_domains:SSF102860,PIRSF_domain:PIRSF028973,Pfam_domain:PF05652,hmmpanther:PTHR12978,hmmpanther:PTHR12978:SF0		P/H		A	medium	730/1479		getma.org/?cm=msa&ty=f&p=DCPS_HUMAN&rb=41&re=146&var=P134H	deleterious(0)				YES	DCPS,missense_variant,p.Pro134His,ENST00000263579,NM_014026.3;DCPS,non_coding_transcript_exon_variant,,ENST00000530860,;DCPS,upstream_gene_variant,,ENST00000529149,;							MODERATE	401/1014	P134H	DCPS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263579		CCDS8473.1			1	
KRTAP10-2	0	LGGM	GRCh37	21	45971299	45971299	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	78	5	.	.	ENST00000391621.1:c.43A>G	p.Asn15Asp	p.N15D	ENST00000391621	NM_198693.2	15	Aac/Gac	0	1	1	UPI000021C438	0	NA	ENST00000391621		ENSG00000205445	22967	0.147	83	-1.605		HGNC	p.N15D	rs233240,COSM50652	KRTAP10-2	0.171	SNV	C:0.1727			0.181		0,1	ENST00000391621	protein_coding	getma.org/?cm=var&var=hg19,21,45971299,T,C&fts=all	C:0.1725	hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8		N/D	C:0.1967	C	neutral	90/1149	0.202	getma.org/?cm=msa&ty=f&p=KR102_HUMAN&rb=1&re=71&var=N15D	tolerated(1)		C:0.1527	C:0.371	YES	KRTAP10-2,missense_variant,p.Asn15Asp,ENST00000391621,NM_198693.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,intron_variant,,ENST00000397916,;KRTAP10-2,non_coding_transcript_exon_variant,,ENST00000498210,;	0.372	C:0.2167			0,1		MODERATE	43/768	N15D	KR102_HUMAN	0.208	C:0.2068	Transcript		benign(0.008)	common_variant	ENSP00000375479	0.202	CCDS42955.1	0.19	C:0.1728	1	
ZNF395	0	LGGM	GRCh37	8	28209107	28209107	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	9	6	.	.	ENST00000344423.5:c.1138G>C	p.Glu380Gln	p.E380Q	ENST00000344423	NM_018660.2	380	Gaa/Caa	0	1	1	UPI0000073F08	0	NA	ENST00000344423		ENSG00000186918	18737		15	1.965		HGNC	p.E380Q		ZNF395		SNV							ENST00000523202	protein_coding	getma.org/?cm=var&var=hg19,8,28209107,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13006:SF6,hmmpanther:PTHR13006		E/Q		G	medium	1270/4808		getma.org/?cm=msa&ty=f&p=ZN395_HUMAN&rb=316&re=511&var=E380Q	tolerated(0.36)	E5RH90_HUMAN,E5RGF1_HUMAN,E5RG59_HUMAN,E5RFV4_HUMAN			YES	ZNF395,missense_variant,p.Glu380Gln,ENST00000344423,NM_018660.2;ZNF395,missense_variant,p.Glu380Gln,ENST00000523202,;ZNF395,missense_variant,p.Glu380Gln,ENST00000523095,;ZNF395,upstream_gene_variant,,ENST00000520535,;FBXO16,3_prime_UTR_variant,,ENST00000521548,;ZNF395,non_coding_transcript_exon_variant,,ENST00000517372,;							MODERATE	1138/1542	E380Q	ZN395_HUMAN			Transcript		possibly_damaging(0.53)	.	ENSP00000340494		CCDS6067.1			1	
SMPD2	0	LGGM	GRCh37	6	109764261	109764261	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	9	6	.	.	ENST00000258052.3:c.706C>T	p.Arg236Cys	p.R236C	ENST00000258052	NM_003080.2	236	Cgc/Tgc	0	1	1	UPI000013CFAC	0	NA	ENST00000258052		ENSG00000135587	11121	8.70E-05	15	3.155		HGNC	p.R236C	rs368023431	SMPD2		SNV	T:0.0002			9.63E-05			ENST00000258052	protein_coding	getma.org/?cm=var&var=hg19,6,109764261,C,T&fts=all		Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR12393,Superfamily_domains:SSF56219		R/C	T:0	T	medium	1065/1645	1.50E-05	getma.org/?cm=msa&ty=f&p=NSMA_HUMAN&rb=12&re=272&var=R236C	deleterious(0)				YES	SMPD2,missense_variant,p.Arg236Cys,ENST00000258052,NM_003080.2;SMPD2,missense_variant,p.Arg133Cys,ENST00000458487,;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,;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,;							MODERATE	706/1272	R236C	NSMA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258052	2.47E-05	CCDS5075.1			1	
GOT1	0	LGGM	GRCh37	10	101162361	101162361	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	12	6	.	.	ENST00000370508.5:c.1078A>G	p.Met360Val	p.M360V	ENST00000370508	NM_002079.2	360	Atg/Gtg	0	1	1	UPI000013CA75	0	getma.org/pdb.php?prot=AATC_HUMAN&from=31&to=405&var=M360V	ENST00000370508		ENSG00000120053	4432		18	4.055		HGNC	p.M360V	rs761969431	GOT1	6.06E-05	SNV			1				ENST00000370508	protein_coding	getma.org/?cm=var&var=hg19,10,101162361,T,C&fts=all		Pfam_domain:PF00155,Prints_domain:PR00799,hmmpanther:PTHR11879,hmmpanther:PTHR11879:SF3,Superfamily_domains:SSF53383		M/V		C	high	1106/1947		getma.org/?cm=msa&ty=f&p=AATC_HUMAN&rb=31&re=405&var=M360V	deleterious(0)				YES	GOT1,missense_variant,p.Met360Val,ENST00000370508,NM_002079.2;GOT1,missense_variant,p.Met339Val,ENST00000543866,;GOT1,non_coding_transcript_exon_variant,,ENST00000489349,;							MODERATE	1078/1242	M360V	AATC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359539	8.24E-06	CCDS7479.1			1	
FAM205A	0	LGGM	GRCh37	9	34723587	34723587	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	6	.	.	ENST00000378788.3:c.3650G>A	p.Cys1217Tyr	p.C1217Y	ENST00000378788	NM_001141917.1	1217	tGt/tAt	0	1	1	UPI00017EE92B	0	NA	ENST00000378788		ENSG00000205108	41911		35	0		HGNC	p.C1217Y		FAM205A		SNV							ENST00000378788	protein_coding	getma.org/?cm=var&var=hg19,9,34723587,C,T&fts=all		hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4		C/Y		T	neutral	3690/4225		getma.org/?cm=msa&ty=f&p=F205A_HUMAN&rb=1201&re=1335&var=C1217Y	tolerated(0.4)				YES	FAM205A,missense_variant,p.Cys1217Tyr,ENST00000378788,NM_001141917.1;							MODERATE	3650/4008	C1217Y	F205A_HUMAN			Transcript		benign(0.056)	.	ENSP00000417711		CCDS55305.1			1	
APPBP2	0	LGGM	GRCh37	17	58525087	58525087	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	114	7	.	.	ENST00000083182.3:c.1613A>G	p.Asn538Ser	p.N538S	ENST00000083182	NM_006380.2	538	aAt/aGt	0	1	1	UPI000006D959	0	NA	ENST00000083182		ENSG00000062725	622		121	0.69		HGNC	p.N538S	rs751105768	APPBP2		SNV							ENST00000083182	protein_coding	getma.org/?cm=var&var=hg19,17,58525087,T,C&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR19959,hmmpanther:PTHR19959:SF114		N/S		C	neutral	1901/6468	1.50E-05	getma.org/?cm=msa&ty=f&p=APBP2_HUMAN&rb=510&re=585&var=N538S	tolerated(0.63)	K7EIZ9_HUMAN			YES	APPBP2,missense_variant,p.Asn538Ser,ENST00000083182,NM_006380.2,NM_001282476.1;APPBP2,downstream_gene_variant,,ENST00000589341,;							MODERATE	1613/1758	N538S	APBP2_HUMAN			Transcript		benign(0.004)	.	ENSP00000083182	8.24E-06	CCDS32699.1			1	
HPX	0	LGGM	GRCh37	11	6452568	6452568	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	50	7	.	.	ENST00000265983.3:c.1262A>G	p.Asn421Ser	p.N421S	ENST00000265983	NM_000613.2	421	aAt/aGt	0	1	1	UPI000012C5AF	0	getma.org/pdb.php?prot=HEMO_HUMAN&from=354&to=462&var=N421S	ENST00000265983		ENSG00000110169	5171		57	0.55		HGNC	p.N421S	rs372250426	HPX	6.06E-05	SNV	C:0						ENST00000265983	protein_coding	getma.org/?cm=var&var=hg19,11,6452568,T,C&fts=all		Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,Gene3D:2.110.10.10,PROSITE_profiles:PS51642		N/S	C:0.0001	C	neutral	1363/1652	3.00E-05	getma.org/?cm=msa&ty=f&p=HEMO_HUMAN&rb=354&re=462&var=N421S	tolerated(0.73)				YES	HPX,missense_variant,p.Asn421Ser,ENST00000265983,NM_000613.2;HPX,downstream_gene_variant,,ENST00000529037,;HPX,downstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000533561,;HPX,non_coding_transcript_exon_variant,,ENST00000527556,;	0.000462						MODERATE	1262/1389	N421S	HEMO_HUMAN			Transcript		benign(0.003)	common_variant	ENSP00000265983	5.77E-05	CCDS7763.1			1	
RNF26	0	LGGM	GRCh37	11	119206713	119206713	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	15	7	.	.	ENST00000311413.4:c.881G>A	p.Ser294Asn	p.S294N	ENST00000311413	NM_032015.4	294	aGt/aAt	0	1	1	UPI0000001BF4	0	NA	ENST00000311413		ENSG00000173456	14646		22	1.59		HGNC	p.S294N		RNF26		SNV							ENST00000311413	protein_coding	getma.org/?cm=var&var=hg19,11,119206713,G,A&fts=all		hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696		S/N		A	low	1477/2787		getma.org/?cm=msa&ty=f&p=RNF26_HUMAN&rb=1&re=319&var=S294N	tolerated(0.09)				YES	RNF26,missense_variant,p.Ser294Asn,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,;							MODERATE	881/1302	S294N	RNF26_HUMAN			Transcript		benign(0.397)	.	ENSP00000312439		CCDS8419.1			1	
CLIC4	0	LGGM	GRCh37	1	25124242	25124242	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	5	7	.	.	ENST00000374379.4:c.82del	p.Asp28MetfsTer5	p.D28Mfs*5	ENST00000374379	NM_013943.2	28	Gat/at	0	1	1	UPI0000127AC9	0		ENST00000374379		ENSG00000169504	13518		12			HGNC	p.D28fs		CLIC4		deletion							ENST00000488683	protein_coding			hmmpanther:PTHR11260:SF185,hmmpanther:PTHR11260,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR00862		D/X		-		279/4346				Q6FIC5_HUMAN,B4DWC4_HUMAN			YES	CLIC4,frameshift_variant,p.Asp28MetfsTer5,ENST00000374379,NM_013943.2;CLIC4,non_coding_transcript_exon_variant,,ENST00000497755,;CLIC4,non_coding_transcript_exon_variant,,ENST00000489758,;CLIC4,frameshift_variant,p.Asp28MetfsTer5,ENST00000488683,;							HIGH	82/762		CLIC4_HUMAN			Transcript			.	ENSP00000363500		CCDS256.1			1	
TOMM40	0	LGGM	GRCh37	19	45397079	45397079	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	13	7	.	.	ENST00000426677.2:c.478C>G	p.Leu160Val	p.L160V	ENST00000426677	NM_001128917.1	160	Ctc/Gtc	0	1		UPI0000130CBB	0	NA	ENST00000252487		ENSG00000130204	18001		20	2.26		HGNC	p.L160V	COSM712390	TOMM40		SNV						1	ENST00000592434	protein_coding	getma.org/?cm=var&var=hg19,19,45397079,C,G&fts=all		hmmpanther:PTHR10802:SF1,hmmpanther:PTHR10802,Gene3D:2.40.160.10,Pfam_domain:PF01459		L/V		G	medium	579/1707		getma.org/?cm=msa&ty=f&p=TOM40_HUMAN&rb=79&re=355&var=L160V	deleterious(0.04)	K7EKG6_HUMAN,K7EJ57_HUMAN				TOMM40,missense_variant,p.Leu160Val,ENST00000592434,;TOMM40,missense_variant,p.Leu160Val,ENST00000426677,NM_001128917.1;TOMM40,missense_variant,p.Leu160Val,ENST00000252487,NM_001128916.1,NM_006114.2;TOMM40,missense_variant,p.Leu160Val,ENST00000405636,;TOMM40,missense_variant,p.Leu160Val,ENST00000589649,;PVRL2,downstream_gene_variant,,ENST00000252483,NM_001042724.1;PVRL2,downstream_gene_variant,,ENST00000592018,;TOMM40,downstream_gene_variant,,ENST00000589253,;CTB-129P6.4,upstream_gene_variant,,ENST00000585408,;TOMM40,upstream_gene_variant,,ENST00000592041,;					1		MODERATE	478/1086	L160V	TOM40_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000252487		CCDS12646.1			1	
DDX1	0	LGGM	GRCh37	2	15743328	15743328	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	16	7	.	.	ENST00000381341.2:c.404A>G	p.Tyr135Cys	p.Y135C	ENST00000381341		135	tAt/tGt	0	1		UPI00001290D1	0	getma.org/pdb.php?prot=DDX1_HUMAN&from=130&to=246&var=Y135C	ENST00000233084		ENSG00000079785	2734		23	3.4		HGNC	p.Y135C		DDX1		SNV							ENST00000381341	protein_coding	getma.org/?cm=var&var=hg19,2,15743328,A,G&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF211,Pfam_domain:PF00270,Pfam_domain:PF00622,SMART_domains:SM00487,SMART_domains:SM00449,Superfamily_domains:SSF49899		Y/C		G	medium	692/2706		getma.org/?cm=msa&ty=f&p=DDX1_HUMAN&rb=130&re=246&var=Y135C	deleterious(0)	B4DME8_HUMAN,A3RJH1_HUMAN				DDX1,missense_variant,p.Tyr135Cys,ENST00000381341,;DDX1,missense_variant,p.Tyr135Cys,ENST00000233084,NM_004939.2;							MODERATE	404/2223	Y135C	DDX1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000233084		CCDS1686.1			1	
SLC2A11	0	LGGM	GRCh37	22	24226891	24226891	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	51	7	.	.	ENST00000398356.2:c.1367C>T	p.Ala456Val	p.A456V	ENST00000398356	NM_001024938.2	456	gCc/gTc	0	1		UPI0000001BF8	0	NA	ENST00000345044		ENSG00000133460	14239		58	2.04		HGNC	p.A449V	rs747124407	SLC2A11		SNV							ENST00000345044	protein_coding	getma.org/?cm=var&var=hg19,22,24226891,C,T&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF5,PROSITE_profiles:PS50850		A/V		T	medium	1614/3219		getma.org/?cm=msa&ty=f&p=GTR11_HUMAN&rb=15&re=471&var=A449V	tolerated(0.07)	Q8TDC5_HUMAN,Q496K8_HUMAN,B5MCM7_HUMAN				SLC2A11,missense_variant,p.Ala449Val,ENST00000345044,;SLC2A11,missense_variant,p.Ala456Val,ENST00000398356,NM_001024938.2,NM_030807.3;SLC2A11,missense_variant,p.Ala452Val,ENST00000316185,NM_001024939.2;AP000350.10,intron_variant,,ENST00000433835,;RN7SL268P,upstream_gene_variant,,ENST00000491172,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000472526,;SLC2A11,downstream_gene_variant,,ENST00000467660,;SLC2A11,downstream_gene_variant,,ENST00000405286,;SLC2A11,downstream_gene_variant,,ENST00000482576,;SLC2A11,3_prime_UTR_variant,,ENST00000405340,;SLC2A11,3_prime_UTR_variant,,ENST00000255830,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000461809,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000489322,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000486907,;SLC2A11,downstream_gene_variant,,ENST00000473357,;							MODERATE	1346/1491	A449V	GTR11_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000342542		CCDS46673.1			1	
INADL	0	LGGM	GRCh37	1	62579745	62579745	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	7	7	.	.	ENST00000371158.2:c.4482G>A	p.Arg1494=	p.R1494=	ENST00000371158	NM_176877.2	1494	agG/agA	0	1	1	UPI0000204487	0		ENST00000371158		ENSG00000132849	28881		14			HGNC	p.R1524R		INADL		SNV							ENST00000316485	protein_coding			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,SMART_domains:SM00228,Superfamily_domains:SSF50156		R		A		4596/8505							YES	INADL,synonymous_variant,p.=,ENST00000371158,NM_176877.2;INADL,synonymous_variant,p.=,ENST00000316485,;INADL,synonymous_variant,p.=,ENST00000543708,;INADL,synonymous_variant,p.=,ENST00000545929,;INADL,upstream_gene_variant,,ENST00000465798,;INADL,synonymous_variant,p.=,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;							LOW	4482/5406		INADL_HUMAN			Transcript			.	ENSP00000360200		CCDS617.2			1	
HDAC7	0	LGGM	GRCh37	12	48177860	48177860	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	8	8	.	.	ENST00000080059.7:c.2930+2T>C		p.X977_splice	ENST00000080059	NM_015401.3			0	1		UPI000013F091	0		ENST00000427332		ENSG00000061273	14067		16			HGNC	-		HDAC7		SNV							ENST00000354334	protein_coding							G		-/3016				F8VWY3_HUMAN,C9JZ79_HUMAN,C9JS90_HUMAN,C9JNI4_HUMAN,C9JH46_HUMAN,C9JGF5_HUMAN,C9JBC2_HUMAN,C9J102_HUMAN				HDAC7,splice_donor_variant,,ENST00000080059,NM_015401.3;HDAC7,splice_donor_variant,,ENST00000354334,NM_001098416.2;HDAC7,splice_donor_variant,,ENST00000380610,;HDAC7,splice_donor_variant,,ENST00000552960,;HDAC7,splice_donor_variant,,ENST00000427332,;HDAC7,splice_donor_variant,,ENST00000548080,;SLC48A1,downstream_gene_variant,,ENST00000442218,NM_017842.2;AC004466.1,upstream_gene_variant,,ENST00000599515,;SLC48A1,downstream_gene_variant,,ENST00000442892,;SLC48A1,downstream_gene_variant,,ENST00000547002,;SLC48A1,downstream_gene_variant,,ENST00000548498,;SLC48A1,downstream_gene_variant,,ENST00000549243,;HDAC7,splice_donor_variant,,ENST00000549883,;HDAC7,downstream_gene_variant,,ENST00000488927,;SLC48A1,downstream_gene_variant,,ENST00000476104,;SLC48A1,downstream_gene_variant,,ENST00000461620,;HDAC7,splice_donor_variant,,ENST00000459625,;HDAC7,splice_donor_variant,,ENST00000470668,;HDAC7,splice_donor_variant,,ENST00000477203,;HDAC7,splice_donor_variant,,ENST00000548938,;HDAC7,splice_donor_variant,,ENST00000547259,;SLC48A1,downstream_gene_variant,,ENST00000551301,;HDAC7,downstream_gene_variant,,ENST00000471235,;							HIGH	2813/2859		HDAC7_HUMAN			Transcript			.	ENSP00000404394					1	
XPNPEP1	0	LGGM	GRCh37	10	111625000	111625000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	8	.	.	ENST00000502935.1:c.1943G>T	p.Arg648Leu	p.R648L	ENST00000502935		648	cGc/cTc	0	1	1	UPI00003D2EAD	0	getma.org/pdb.php?prot=XPP1_HUMAN&from=545&to=623&var=R605L	ENST00000502935		ENSG00000108039	12822		37	1.15		HGNC	p.R605L		XPNPEP1		SNV							ENST00000369680	protein_coding	getma.org/?cm=var&var=hg19,10,111625000,C,A&fts=all		hmmpanther:PTHR10804:SF87,hmmpanther:PTHR10804		R/L		A	low	2063/2539		getma.org/?cm=msa&ty=f&p=XPP1_HUMAN&rb=545&re=623&var=R605L	tolerated(0.1)	Q68EA4_HUMAN,Q5T6H7_HUMAN,Q5T6H2_HUMAN,B4E2P4_HUMAN,B4DIS4_HUMAN			YES	XPNPEP1,missense_variant,p.Arg648Leu,ENST00000502935,;XPNPEP1,missense_variant,p.Arg605Leu,ENST00000369680,NM_020383.3;XPNPEP1,missense_variant,p.Arg624Leu,ENST00000322238,NM_001167604.1;XPNPEP1,missense_variant,p.Arg534Leu,ENST00000369683,;U4,upstream_gene_variant,,ENST00000607255,;XPNPEP1,downstream_gene_variant,,ENST00000494499,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000488118,;XPNPEP1,non_coding_transcript_exon_variant,,ENST00000369658,;							MODERATE	1943/2001	R605L	XPP1_HUMAN			Transcript		benign(0.128)	.	ENSP00000421566		CCDS7560.2			1	
BCAM	0	LGGM	GRCh37	19	45322324	45322324	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	223	8	.	.	ENST00000270233.6:c.1348C>A	p.Leu450Ile	p.L450I	ENST00000270233	NM_005581.4	450	Cta/Ata	0	1	1	UPI0000190806	0	NA	ENST00000270233		ENSG00000187244	6722		231	1.155		HGNC	p.L450I		BCAM		SNV			1				ENST00000270233	protein_coding	getma.org/?cm=var&var=hg19,19,45322324,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR11973:SF15,hmmpanther:PTHR11973,PROSITE_profiles:PS50835		L/I		A	low	1370/2402		getma.org/?cm=msa&ty=f&p=BCAM_HUMAN&rb=448&re=541&var=L450I	tolerated(0.4)	A9YWT4_HUMAN			YES	BCAM,missense_variant,p.Leu450Ile,ENST00000589651,;BCAM,missense_variant,p.Leu450Ile,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,;							MODERATE	1348/1887	L450I	BCAM_HUMAN			Transcript		benign(0.038)	.	ENSP00000270233		CCDS12644.1			1	
ALS2	0	LGGM	GRCh37	2	202614493	202614493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	27	8	.	.	ENST00000264276.6:c.1757A>G	p.Asn586Ser	p.N586S	ENST00000264276	NM_020919.3	586	aAt/aGt	0	1	1	UPI0000231C77	0	NA	ENST00000264276		ENSG00000003393	443		35	3.225		HGNC	p.N586S		ALS2		SNV			1				ENST00000264276	protein_coding	getma.org/?cm=var&var=hg19,2,202614493,T,C&fts=all		Prints_domain:PR00633,Superfamily_domains:SSF50985,Pfam_domain:PF00415,Gene3D:2.130.10.30,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF12,PROSITE_profiles:PS50012		N/S		C	medium	2130/6644		getma.org/?cm=msa&ty=f&p=ALS2_HUMAN&rb=577&re=625&var=N586S	deleterious(0.03)	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN			YES	ALS2,missense_variant,p.Asn586Ser,ENST00000264276,NM_020919.3;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;ALS2,non_coding_transcript_exon_variant,,ENST00000482789,;							MODERATE	1757/4974	N586S	ALS2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264276		CCDS42800.1			1	
GSS	0	LGGM	GRCh37	20	33519177	33519177	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	20	8	.	.	ENST00000216951.2:c.1073C>G	p.Pro358Arg	p.P358R	ENST00000216951	NM_000178.2	358	cCt/cGt	0	1	1	UPI0000111B5F	0	getma.org/pdb.php?prot=GSHB_HUMAN&from=5&to=473&var=P358R	ENST00000216951		ENSG00000100983	4624	8.64E-05	28	3.105		HGNC	p.P247R	rs752295865	GSS		SNV			1				ENST00000451957	protein_coding	getma.org/?cm=var&var=hg19,20,33519177,G,C&fts=all		Gene3D:3.30.1490.50,Pfam_domain:PF03917,PIRSF_domain:PIRSF001558,hmmpanther:PTHR11130,hmmpanther:PTHR11130:SF0,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01986		P/R		C	medium	1172/1919		getma.org/?cm=msa&ty=f&p=GSHB_HUMAN&rb=5&re=473&var=P358R	deleterious(0)	B7Z514_HUMAN,B7Z1C5_HUMAN			YES	GSS,missense_variant,p.Pro358Arg,ENST00000216951,NM_000178.2;GSS,missense_variant,p.Pro230Arg,ENST00000541098,;GSS,missense_variant,p.Pro247Arg,ENST00000451957,;ACSS2,downstream_gene_variant,,ENST00000360596,NM_018677.3;ACSS2,downstream_gene_variant,,ENST00000253382,NM_001076552.2;ACSS2,downstream_gene_variant,,ENST00000336325,NM_001242393.1;ACSS2,downstream_gene_variant,,ENST00000476922,;ACSS2,downstream_gene_variant,,ENST00000481284,;ACSS2,downstream_gene_variant,,ENST00000477932,;ACSS2,downstream_gene_variant,,ENST00000494727,;ACSS2,downstream_gene_variant,,ENST00000480978,;							MODERATE	1073/1425	P358R	GSHB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216951	8.24E-06	CCDS13245.1			1	
MCF2L2	0	LGGM	GRCh37	3	182923942	182923942	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	32	9	.	.	ENST00000328913.3:c.2773A>T	p.Ser925Cys	p.S925C	ENST00000328913	NM_015078.2	925	Agt/Tgt	0	1	1	UPI00001A962F	0	getma.org/pdb.php?prot=MF2L2_HUMAN&from=834&to=954&var=S925C	ENST00000328913		ENSG00000053524	30319		41	0.835		HGNC	p.S925C		MCF2L2		SNV			1				ENST00000473233	protein_coding	getma.org/?cm=var&var=hg19,3,182923942,T,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22826:SF89,hmmpanther:PTHR22826,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		S/C		A	low	3071/4980		getma.org/?cm=msa&ty=f&p=MF2L2_HUMAN&rb=834&re=954&var=S925C	tolerated(0.21)	C9J326_HUMAN			YES	MCF2L2,missense_variant,p.Ser925Cys,ENST00000328913,NM_015078.2;MCF2L2,missense_variant,p.Ser925Cys,ENST00000473233,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000468976,;MCF2L2,non_coding_transcript_exon_variant,,ENST00000488149,;							MODERATE	2773/3345	S925C	MF2L2_HUMAN			Transcript		benign(0.004)	.	ENSP00000328118		CCDS3243.1			1	
SLC6A5	0	LGGM	GRCh37	11	20657907	20657907	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	11	9	.	.	ENST00000525748.1:c.1679C>G	p.Ser560Cys	p.S560C	ENST00000525748	NM_004211.3	560	tCt/tGt	0	1	1	UPI00004564A5	0	getma.org/pdb.php?prot=SC6A5_HUMAN&from=191&to=740&var=S560C	ENST00000525748		ENSG00000165970	11051		20	2.66		HGNC	p.S560C		SLC6A5		SNV			1				ENST00000525748	protein_coding	getma.org/?cm=var&var=hg19,11,20657907,C,G&fts=all		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF107,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		S/C		G	medium	1952/7084		getma.org/?cm=msa&ty=f&p=SC6A5_HUMAN&rb=191&re=740&var=S560C	deleterious(0)				YES	SLC6A5,missense_variant,p.Ser560Cys,ENST00000525748,NM_004211.3;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,;SLC6A5,3_prime_UTR_variant,,ENST00000298923,;							MODERATE	1679/2394	S560C	SC6A5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000434364		CCDS7854.1			1	
FAM65C	0	LGGM	GRCh37	20	49211125	49211125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	9	.	.	ENST00000327979.2:c.2165G>T	p.Arg722Ile	p.R722I	ENST00000327979		722	aGa/aTa	0	1		UPI0000DA5AF4	0	NA	ENST00000045083		ENSG00000042062	16168		43	1.935		HGNC	p.R726I		FAM65C		SNV							ENST00000535356	protein_coding	getma.org/?cm=var&var=hg19,20,49211125,C,A&fts=all		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12		R/I		A	medium	2483/4279		getma.org/?cm=msa&ty=f&p=FA65C_HUMAN&rb=601&re=800&var=R722I	deleterious(0)					FAM65C,missense_variant,p.Arg722Ile,ENST00000327979,;FAM65C,missense_variant,p.Arg722Ile,ENST00000045083,NM_080829.2;FAM65C,missense_variant,p.Arg726Ile,ENST00000535356,;FAM65C,non_coding_transcript_exon_variant,,ENST00000488529,;FAM65C,non_coding_transcript_exon_variant,,ENST00000482129,;FAM65C,upstream_gene_variant,,ENST00000462842,;FAM65C,downstream_gene_variant,,ENST00000462493,;							MODERATE	2165/2841	R722I	FA65C_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000045083		CCDS13431.2			1	
HPX	0	LGGM	GRCh37	11	6452528	6452528	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	9	.	.	ENST00000265983.3:c.1302C>G	p.Tyr434Ter	p.Y434*	ENST00000265983	NM_000613.2	434	taC/taG	0	1	1	UPI000012C5AF	0	NA	ENST00000265983		ENSG00000110169	5171		42	0		HGNC	p.Y434X		HPX		SNV							ENST00000265983	protein_coding	getma.org/?cm=var&var=hg19,11,6452528,G,C&fts=all		Superfamily_domains:SSF50923,PIRSF_domain:PIRSF002551,Gene3D:2.110.10.10,PROSITE_profiles:PS51642		Y/*		C	NA	1403/1652		NA					YES	HPX,stop_gained,p.Tyr434Ter,ENST00000265983,NM_000613.2;HPX,downstream_gene_variant,,ENST00000529037,;HPX,downstream_gene_variant,,ENST00000534429,;HPX,downstream_gene_variant,,ENST00000533561,;HPX,downstream_gene_variant,,ENST00000527556,;							HIGH	1302/1389	Y434*	HEMO_HUMAN			Transcript			.	ENSP00000265983		CCDS7763.1			1	
LRP1B	0	LGGM	GRCh37	2	141200071	141200071	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	37	10	.	.	ENST00000389484.3:c.10414+2T>C		p.X3472_splice	ENST00000389484	NM_018557.2			0	1	1	UPI00001B045B	0		ENST00000389484		ENSG00000168702	6693		47			HGNC	-		LRP1B		SNV							ENST00000389484	protein_coding							G		-/16535				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			YES	LRP1B,splice_donor_variant,,ENST00000389484,NM_018557.2;							HIGH	10414/13800		LRP1B_HUMAN			Transcript			.	ENSP00000374135		CCDS2182.1			1	
TG	0	LGGM	GRCh37	8	133948082	133948082	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	10	.	.	ENST00000220616.4:c.5014G>T	p.Asp1672Tyr	p.D1672Y	ENST00000220616	NM_003235.4	1672	Gat/Tat	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		31	2.125		HGNC	p.D106Y		TG		SNV			1				ENST00000542445	protein_coding	getma.org/?cm=var&var=hg19,8,133948082,G,T&fts=all		PIRSF_domain:PIRSF001831		D/Y		T	medium	5054/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=1566&re=2178&var=D1672Y	deleterious(0)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Asp1672Tyr,ENST00000220616,NM_003235.4;TG,missense_variant,p.Asp1615Tyr,ENST00000377869,;TG,missense_variant,p.Asp192Tyr,ENST00000519178,;TG,missense_variant,p.Asp106Tyr,ENST00000542445,;TG,3_prime_UTR_variant,,ENST00000523756,;							MODERATE	5014/8307	D1672Y	THYG_HUMAN			Transcript		possibly_damaging(0.45)	.	ENSP00000220616		CCDS34944.1			1	
SPEG	0	LGGM	GRCh37	2	220353025	220353025	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	26	10	.	.	ENST00000312358.7:c.7851G>T	p.Trp2617Cys	p.W2617C	ENST00000312358	NM_005876.4	2617	tgG/tgT	0	1	1	UPI000066D99E	0	getma.org/pdb.php?prot=SPEG_HUMAN&from=2584&to=2674&var=W2617C	ENST00000312358		ENSG00000072195	16901		36	4.24		HGNC	p.W2617C		SPEG		SNV			1				ENST00000312358	protein_coding	getma.org/?cm=var&var=hg19,2,220353025,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		W/C		T	high	7983/10782		getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=2584&re=2674&var=W2617C		B9A038_HUMAN			YES	SPEG,missense_variant,p.Trp2617Cys,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,NM_001286811.1;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;							MODERATE	7851/9804	W2617C	SPEG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000311684		CCDS42824.1			1	
HTR3C	0	LGGM	GRCh37	3	183772671	183772671	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	19	10	.	.	ENST00000318351.1:c.230G>A	p.Gly77Glu	p.G77E	ENST00000318351	NM_130770.2	77	gGa/gAa	0	1	1	UPI00001402D6	0	getma.org/pdb.php?prot=5HT3C_HUMAN&from=43&to=247&var=G77E	ENST00000318351		ENSG00000178084	24003		29	-0.75		HGNC	p.G77E		HTR3C		SNV							ENST00000318351	protein_coding	getma.org/?cm=var&var=hg19,3,183772671,G,A&fts=all		hmmpanther:PTHR18945:SF409,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932		G/E		A	neutral	264/1697		getma.org/?cm=msa&ty=f&p=5HT3C_HUMAN&rb=43&re=247&var=G77E	tolerated(1)				YES	HTR3C,missense_variant,p.Gly77Glu,ENST00000318351,NM_130770.2;							MODERATE	230/1344	G77E	5HT3C_HUMAN			Transcript		benign(0.001)	.	ENSP00000322617		CCDS3250.1			1	
COPB1	0	LGGM	GRCh37	11	14504643	14504643	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	12	10	.	.	ENST00000249923.3:c.892A>G	p.Lys298Glu	p.K298E	ENST00000249923	NM_016451.4	298	Aaa/Gaa	0	1	1	UPI000000103D	0	getma.org/pdb.php?prot=COPB_HUMAN&from=18&to=539&var=K298E	ENST00000249923		ENSG00000129083	2231		22	3.75		HGNC	p.K298E		COPB1		SNV							ENST00000534234	protein_coding	getma.org/?cm=var&var=hg19,11,14504643,T,C&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF005727,hmmpanther:PTHR10635,Superfamily_domains:SSF48371		K/E		C	high	1193/3481		getma.org/?cm=msa&ty=f&p=COPB_HUMAN&rb=18&re=539&var=K298E	deleterious(0)	E9PP63_HUMAN,E9PKQ1_HUMAN			YES	COPB1,missense_variant,p.Lys298Glu,ENST00000249923,NM_016451.4;COPB1,missense_variant,p.Lys298Glu,ENST00000439561,NM_001144061.1,NM_001144062.1;COPB1,missense_variant,p.Lys298Glu,ENST00000534234,;RNU7-49P,downstream_gene_variant,,ENST00000516182,;							MODERATE	892/2862	K298E	COPB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000249923		CCDS7815.1			1	
SNAP91	0	LGGM	GRCh37	6	84302976	84302976	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	11	.	.	ENST00000439399.2:c.1699T>C	p.Leu567=	p.L567=	ENST00000439399	NM_014841.2	567	Tta/Cta	0	1		UPI0000124FB3	0		ENST00000369694		ENSG00000065609	14986		53			HGNC	p.L565L		SNAP91		SNV							ENST00000520302	protein_coding			hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4		L		G		2013/4449				E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN				SNAP91,splice_region_variant,p.=,ENST00000428679,;SNAP91,splice_region_variant,p.=,ENST00000521485,;SNAP91,splice_region_variant,p.=,ENST00000439399,NM_014841.2;SNAP91,splice_region_variant,p.=,ENST00000369694,NM_001242792.1;SNAP91,splice_region_variant,p.=,ENST00000195649,NM_001256718.1;SNAP91,splice_region_variant,p.=,ENST00000521743,;SNAP91,splice_region_variant,p.=,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,splice_region_variant,p.=,ENST00000521931,;SNAP91,intron_variant,,ENST00000437520,NM_001242794.1;SNAP91,intron_variant,,ENST00000520213,;SNAP91,upstream_gene_variant,,ENST00000523448,;SNAP91,downstream_gene_variant,,ENST00000369691,;SNAP91,splice_region_variant,,ENST00000521616,;SNAP91,intron_variant,,ENST00000518312,;SNAP91,downstream_gene_variant,,ENST00000523780,;							LOW	1699/2724		AP180_HUMAN			Transcript			.	ENSP00000358708		CCDS47455.1			1	
FANCD2	0	LGGM	GRCh37	3	10116314	10116314	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	11	.	.	ENST00000287647.3:c.2816G>T	p.Gly939Val	p.G939V	ENST00000287647	NM_033084.3	939	gGa/gTa	0	1		UPI000006CD51	0	NA	ENST00000383807		ENSG00000144554	3585		45	2.555		HGNC	p.G939V		FANCD2		SNV			1				ENST00000287647	protein_coding	getma.org/?cm=var&var=hg19,3,10116314,G,T&fts=all		hmmpanther:PTHR32086,Pfam_domain:PF14631		G/V		T	medium	2894/5102		getma.org/?cm=msa&ty=f&p=FACD2_HUMAN&rb=1&re=1470&var=G939V	deleterious(0)					FANCD2,missense_variant,p.Gly939Val,ENST00000287647,NM_033084.3;FANCD2,missense_variant,p.Gly939Val,ENST00000419585,;FANCD2,missense_variant,p.Gly939Val,ENST00000383807,NM_001018115.1;FANCD2,missense_variant,p.Gly939Val,ENST00000383806,;FANCD2,downstream_gene_variant,,ENST00000470757,;FANCD2,missense_variant,p.Gly439Val,ENST00000421731,;FANCD2,downstream_gene_variant,,ENST00000480909,;							MODERATE	2816/4356	G939V	FACD2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000373318		CCDS33696.1			1	
FUCA2	0	LGGM	GRCh37	6	143823245	143823245	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	15	11	.	.	ENST00000002165.6:c.978A>C	p.Thr326=	p.T326=	ENST00000002165	NM_032020.4	326	acA/acC	0	1	1	UPI0000073C10	0		ENST00000002165		ENSG00000001036	4008		26			HGNC	p.S143R		FUCA2		SNV							ENST00000438118	protein_coding			hmmpanther:PTHR10030,hmmpanther:PTHR10030:SF24,Pfam_domain:PF01120,Gene3D:3.20.20.80,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Superfamily_domains:SSF51445,Prints_domain:PR00741		T		G		1034/2356							YES	FUCA2,missense_variant,p.Ser143Arg,ENST00000438118,;FUCA2,synonymous_variant,p.=,ENST00000002165,NM_032020.4;FUCA2,synonymous_variant,p.=,ENST00000451668,;RP1-20N2.6,intron_variant,,ENST00000591892,;RP1-20N2.6,intron_variant,,ENST00000610068,;RP1-20N2.6,intron_variant,,ENST00000589563,;RP1-20N2.6,upstream_gene_variant,,ENST00000589489,;RP1-20N2.6,upstream_gene_variant,,ENST00000593045,;RP1-20N2.6,upstream_gene_variant,,ENST00000590703,;RP1-20N2.6,upstream_gene_variant,,ENST00000415586,;RP1-20N2.6,upstream_gene_variant,,ENST00000593175,;RP1-20N2.6,upstream_gene_variant,,ENST00000591189,;FUCA2,non_coding_transcript_exon_variant,,ENST00000367585,;							LOW	978/1404		FUCO2_HUMAN			Transcript			.	ENSP00000002165		CCDS5200.1			1	
TRPC4	0	LGGM	GRCh37	13	38237605	38237605	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	28	11	.	.	ENST00000379681.3:c.1636G>A	p.Gly546Arg	p.G546R	ENST00000379681	NM_001135955.1	546	Ggg/Agg	0	1		UPI00001374B2	0	NA	ENST00000379705		ENSG00000133107	12336		39	0.28		HGNC	p.G546R		TRPC4		SNV							ENST00000379673	protein_coding	getma.org/?cm=var&var=hg19,13,38237605,C,T&fts=all		hmmpanther:PTHR10117:SF25,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520		G/R		T	neutral	2494/4059		getma.org/?cm=msa&ty=f&p=TRPC4_HUMAN&rb=404&re=620&var=G546R	tolerated(0.41)					TRPC4,missense_variant,p.Gly546Arg,ENST00000379705,;TRPC4,missense_variant,p.Gly546Arg,ENST00000379681,NM_001135955.1,NM_016179.2,NM_003306.1;TRPC4,missense_variant,p.Gly546Arg,ENST00000447043,;TRPC4,missense_variant,p.Gly546Arg,ENST00000358477,;TRPC4,missense_variant,p.Gly373Arg,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Gly546Arg,ENST00000355779,NM_001135957.1;TRPC4,missense_variant,p.Gly546Arg,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Gly373Arg,ENST00000379679,;TRPC4,intron_variant,,ENST00000426868,;TRPC4,non_coding_transcript_exon_variant,,ENST00000494529,;TRPC4,3_prime_UTR_variant,,ENST00000488717,;							MODERATE	1636/2934	G546R	TRPC4_HUMAN			Transcript		benign(0.004)	.	ENSP00000369027		CCDS9365.1			1	
ANKRD32	0	LGGM	GRCh37	5	94006581	94006581	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	20	11	.	.	ENST00000265140.5:c.1695A>C	p.Lys565Asn	p.K565N	ENST00000265140	NM_032290.3	565	aaA/aaC	0	1	1	UPI000066D9F9	0	NA	ENST00000265140		ENSG00000133302	25408		31	1.5		HGNC	p.K565N		ANKRD32		SNV							ENST00000265140	protein_coding	getma.org/?cm=var&var=hg19,5,94006581,A,C&fts=all		hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22		K/N		C	low	2114/5905		getma.org/?cm=msa&ty=f&p=ANR32_HUMAN&rb=205&re=686&var=K565N	tolerated(0.18)	I6L9F1_HUMAN,D6RED9_HUMAN			YES	ANKRD32,missense_variant,p.Lys565Asn,ENST00000265140,NM_032290.3;ANKRD32,downstream_gene_variant,,ENST00000466957,;							MODERATE	1695/3177	K565N	ANR32_HUMAN			Transcript		benign(0.021)	.	ENSP00000265140		CCDS4071.2			1	
SRCAP	0	LGGM	GRCh37	16	30750214	30750214	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	34	11	.	.	ENST00000262518.4:c.8853T>G	p.Pro2951=	p.P2951=	ENST00000262518	NM_006662.2	2951	ccT/ccG	0	1	1	UPI000059D368	0		ENST00000262518		ENSG00000080603	16974		45			HGNC	p.P2774P	rs367970661	SRCAP		SNV			1				ENST00000380361	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581		P		G		9238/10474				G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,synonymous_variant,p.=,ENST00000262518,NM_006662.2;SRCAP,synonymous_variant,p.=,ENST00000395059,;SRCAP,synonymous_variant,p.=,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,synonymous_variant,p.=,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;							LOW	8853/9693		SRCAP_HUMAN			Transcript			.	ENSP00000262518		CCDS10689.2			1	
MSH6	0	LGGM	GRCh37	2	48028043	48028043	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	21	11	.	.	ENST00000234420.5:c.2921G>A	p.Arg974Lys	p.R974K	ENST00000234420	NM_000179.2	974	aGg/aAg	0	1	1	UPI00000405F8	0	getma.org/pdb.php?prot=MSH6_HUMAN&from=932&to=1024&var=R974K	ENST00000234420		ENSG00000116062	7329		32	-0.885		HGNC	p.R974K		MSH6		SNV			1				ENST00000234420	protein_coding	getma.org/?cm=var&var=hg19,2,48028043,G,A&fts=all		hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,Pfam_domain:PF05190,Pfam_domain:PF05192,SMART_domains:SM00533,PIRSF_domain:PIRSF037677,Superfamily_domains:SSF48334		R/K		A	neutral	3073/7476		getma.org/?cm=msa&ty=f&p=MSH6_HUMAN&rb=932&re=1024&var=R974K	tolerated(1)	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN			YES	MSH6,missense_variant,p.Arg974Lys,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Arg672Lys,ENST00000538136,NM_001281494.1;MSH6,missense_variant,p.Arg844Lys,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,;							MODERATE	2921/4083	R974K	MSH6_HUMAN			Transcript		benign(0.046)	.	ENSP00000234420		CCDS1836.1			1	
ST7L	0	LGGM	GRCh37	1	113160661	113160661	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	68	11	.	.	ENST00000358039.4:c.205+870C>A		*69*	ENST00000358039	NM_138727.3			0	1	1	UPI000006D137	0		ENST00000358039		ENSG00000007341	18441		79			HGNC	p.S2Y		ST7L		SNV							ENST00000369664	protein_coding							T		-/4528							YES	ST7L,missense_variant,p.Ser2Tyr,ENST00000538187,;ST7L,missense_variant,p.Ser2Tyr,ENST00000369664,;ST7L,intron_variant,,ENST00000358039,NM_138727.3,NM_017744.4;ST7L,intron_variant,,ENST00000360743,NM_138728.2;ST7L,intron_variant,,ENST00000369668,;ST7L,intron_variant,,ENST00000343210,NM_138729.3;ST7L,intron_variant,,ENST00000369666,;ST7L,intron_variant,,ENST00000544629,;ST7L,intron_variant,,ENST00000490067,;ST7L,intron_variant,,ENST00000369669,;ST7L,intron_variant,,ENST00000543570,;CAPZA1,upstream_gene_variant,,ENST00000263168,NM_006135.2;ST7L,intron_variant,,ENST00000463235,;ST7L,intron_variant,,ENST00000480988,;ST7L,intron_variant,,ENST00000497457,;ST7L,intron_variant,,ENST00000467335,;ST7L,intron_variant,,ENST00000497235,;ST7L,intron_variant,,ENST00000477332,;ST7L,intron_variant,,ENST00000470519,;ST7L,intron_variant,,ENST00000473206,;ST7L,intron_variant,,ENST00000459630,;ST7L,intron_variant,,ENST00000470683,;ST7L,intron_variant,,ENST00000498383,;ST7L,intron_variant,,ENST00000492274,;ST7L,intron_variant,,ENST00000479436,;ST7L,upstream_gene_variant,,ENST00000485753,;CAPZA1,upstream_gene_variant,,ENST00000476936,;CAPZA1,upstream_gene_variant,,ENST00000485542,;CAPZA1,upstream_gene_variant,,ENST00000498626,;ST7L,intron_variant,,ENST00000490715,;ST7L,intron_variant,,ENST00000361846,;							MODIFIER	-/1728		ST7L_HUMAN			Transcript			.	ENSP00000350734		CCDS848.1			1	
SI	0	LGGM	GRCh37	3	164764736	164764736	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	11	.	.	ENST00000264382.3:c.1780T>A	p.Ser594Thr	p.S594T	ENST00000264382	NM_001041.3	594	Tct/Act	0	1	1	UPI000022C287	0	getma.org/pdb.php?prot=SUIS_HUMAN&from=323&to=797&var=S594T	ENST00000264382		ENSG00000090402	10856		33	1.14		HGNC	p.S594T		SI		SNV			1				ENST00000264382	protein_coding	getma.org/?cm=var&var=hg19,3,164764736,A,T&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66		S/T		T	low	1843/6011		getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=323&re=797&var=S594T	tolerated(0.15)				YES	SI,missense_variant,p.Ser594Thr,ENST00000264382,NM_001041.3;							MODERATE	1780/5484	S594T	SUIS_HUMAN			Transcript		benign(0.07)	.	ENSP00000264382		CCDS3196.1			1	
PLCH1	0	LGGM	GRCh37	3	155212255	155212255	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	20	12	.	.	ENST00000340059.7:c.1910T>C	p.Val637Ala	p.V637A	ENST00000340059	NM_001130960.1	637	gTt/gCt	0	1	1	UPI00001D800E	0	getma.org/pdb.php?prot=PLCH1_HUMAN&from=600&to=714&var=V637A	ENST00000340059		ENSG00000114805	29185		32	0.885		HGNC	p.V619A		PLCH1		SNV							ENST00000414191	protein_coding	getma.org/?cm=var&var=hg19,3,155212255,A,G&fts=all		Gene3D:3.20.20.190,Pfam_domain:PF00387,PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF51,SMART_domains:SM00149,Superfamily_domains:SSF51695		V/A		G	low	1910/6168		getma.org/?cm=msa&ty=f&p=PLCH1_HUMAN&rb=600&re=714&var=V637A	tolerated(0.08)				YES	PLCH1,missense_variant,p.Val619Ala,ENST00000460012,;PLCH1,missense_variant,p.Val619Ala,ENST00000414191,;PLCH1,missense_variant,p.Val637Ala,ENST00000447496,NM_001130961.1;PLCH1,missense_variant,p.Val637Ala,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Val619Ala,ENST00000334686,NM_014996.2;PLCH1,missense_variant,p.Val637Ala,ENST00000494598,;PLCH1,non_coding_transcript_exon_variant,,ENST00000469040,;							MODERATE	1910/5082	V637A	PLCH1_HUMAN			Transcript		possibly_damaging(0.626)	.	ENSP00000345988		CCDS46939.1			1	
PRG4	0	LGGM	GRCh37	1	186275490	186275490	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	324	13	.	.	ENST00000445192.2:c.639C>T	p.Thr213=	p.T213=	ENST00000445192	NM_005807.3	213	acC/acT	0	1	1	UPI0000070EF9	0		ENST00000445192		ENSG00000116690	9364		337			HGNC	p.T120T		PRG4		SNV			1				ENST00000367485	protein_coding			hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,Low_complexity_(Seg):seg		T		T		684/5044				B3KQ20_HUMAN			YES	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.=,ENST00000367484,;PRG4,synonymous_variant,p.=,ENST00000367482,;PRG4,synonymous_variant,p.=,ENST00000533951,;							LOW	639/4215		PRG4_HUMAN			Transcript			.	ENSP00000399679		CCDS1369.1			1	
HIVEP2	0	LGGM	GRCh37	6	143081018	143081018	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	17	13	.	.	ENST00000367603.2:c.6407G>A	p.Arg2136Lys	p.R2136K	ENST00000367603	NM_006734.3	2136	aGa/aAa	0	1		UPI00004708DD	0	NA	ENST00000012134		ENSG00000010818	4921		30	1.23		HGNC	p.R2136K		HIVEP2		SNV							ENST00000367603	protein_coding	getma.org/?cm=var&var=hg19,6,143081018,C,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53		R/K		T	low	6952/9524		getma.org/?cm=msa&ty=f&p=ZEP2_HUMAN&rb=2089&re=2444&var=R2136K	tolerated(0.12)	B4DKE9_HUMAN				HIVEP2,missense_variant,p.Arg2136Lys,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Arg2136Lys,ENST00000367604,;HIVEP2,missense_variant,p.Arg2136Lys,ENST00000012134,;							MODERATE	6407/7341	R2136K	ZEP2_HUMAN			Transcript		benign(0.008)	.	ENSP00000012134		CCDS43510.1			1	
PNLIPRP1	0	LGGM	GRCh37	10	118357398	118357398	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	13	.	.	ENST00000528052.1:c.633C>G	p.Pro211=	p.P211=	ENST00000528052		211	ccC/ccG	0	1		UPI000012E6AA	0		ENST00000358834		ENSG00000187021	9156		42			HGNC	p.P211P		PNLIPRP1		SNV							ENST00000528052	protein_coding			Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610:SF93,hmmpanther:PTHR11610		P		G		667/1497				E9PR20_HUMAN,E9PMA6_HUMAN				PNLIPRP1,synonymous_variant,p.=,ENST00000528052,;PNLIPRP1,synonymous_variant,p.=,ENST00000358834,NM_006229.2;PNLIPRP1,synonymous_variant,p.=,ENST00000534537,;PNLIPRP1,synonymous_variant,p.=,ENST00000530319,;PNLIPRP1,synonymous_variant,p.=,ENST00000527980,;PNLIPRP1,downstream_gene_variant,,ENST00000531984,;PNLIPRP1,downstream_gene_variant,,ENST00000471549,;PNLIPRP1,downstream_gene_variant,,ENST00000442761,;PNLIPRP1,downstream_gene_variant,,ENST00000480870,;PNLIPRP1,downstream_gene_variant,,ENST00000525157,;PNLIPRP1,downstream_gene_variant,,ENST00000510125,;PNLIPRP1,synonymous_variant,p.=,ENST00000482833,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000526223,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000531825,;PNLIPRP1,non_coding_transcript_exon_variant,,ENST00000525820,;PNLIPRP1,downstream_gene_variant,,ENST00000482159,;PNLIPRP1,downstream_gene_variant,,ENST00000497792,;PNLIPRP1,downstream_gene_variant,,ENST00000484402,;PNLIPRP1,downstream_gene_variant,,ENST00000529584,;PNLIPRP1,upstream_gene_variant,,ENST00000534513,;							LOW	633/1404		LIPR1_HUMAN			Transcript			.	ENSP00000351695		CCDS7595.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266095	41266095	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	13	.	.	ENST00000349496.5:c.92T>C	p.Leu31Pro	p.L31P	ENST00000349496	NM_001904.3	31	cTg/cCg	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=L31P	ENST00000349496		ENSG00000168036	2514		35	0.975		HGNC	p.L31P	COSM1423003	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266095,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		L/P		C	low	372/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=L31P	deleterious(0.04)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Leu31Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Leu31Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Leu31Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Leu24Pro,ENST00000453024,;CTNNB1,missense_variant,p.Leu31Pro,ENST00000405570,;CTNNB1,missense_variant,p.Leu31Pro,ENST00000450969,;CTNNB1,missense_variant,p.Leu31Pro,ENST00000431914,;CTNNB1,missense_variant,p.Leu31Pro,ENST00000441708,;CTNNB1,missense_variant,p.Leu24Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	92/2346	L31P	CTNB1_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000344456		CCDS2694.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H080025	H080025N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	26	33	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		59			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
ERCC2	0	LGGM	GRCh37	19	45872352	45872352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	48	14	.	.	ENST00000391945.4:c.159G>T	p.Leu53Phe	p.L53F	ENST00000391945	NM_000400.3	53	ttG/ttT	0	1	1	UPI0000139012	0	getma.org/pdb.php?prot=ERCC2_HUMAN&from=7&to=283&var=L53F	ENST00000391945		ENSG00000104884	3434		62	3.045		HGNC	p.L53F		ERCC2		SNV			1				ENST00000391945	protein_coding	getma.org/?cm=var&var=hg19,19,45872352,C,A&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488,Superfamily_domains:SSF52540		L/F		A	medium	237/4153		getma.org/?cm=msa&ty=f&p=ERCC2_HUMAN&rb=7&re=283&var=L53F	tolerated(0.09)	K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,missense_variant,p.Leu53Phe,ENST00000391945,NM_000400.3;ERCC2,missense_variant,p.Leu29Phe,ENST00000391941,;ERCC2,missense_variant,p.Leu53Phe,ENST00000391944,;ERCC2,missense_variant,p.Leu29Phe,ENST00000485403,NM_001130867.1;ERCC2,missense_variant,p.Leu29Phe,ENST00000391940,;ERCC2,missense_variant,p.Leu29Phe,ENST00000586131,;ERCC2,missense_variant,p.Leu53Phe,ENST00000221481,;ERCC2,intron_variant,,ENST00000586856,;ERCC2,missense_variant,p.Leu53Phe,ENST00000591309,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586441,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586737,;							MODERATE	159/2283	L53F	ERCC2_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000375809		CCDS33049.1			1	
TRIP12	0	LGGM	GRCh37	2	230638958	230638958	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	38	14	.	.	ENST00000283943.5:c.5324A>G	p.Tyr1775Cys	p.Y1775C	ENST00000283943	NM_004238.1	1775	tAt/tGt	0	1	1	UPI000013739D	0	getma.org/pdb.php?prot=TRIPC_HUMAN&from=1636&to=1992&var=Y1775C	ENST00000283943		ENSG00000153827	12306	8.64E-05	52	1.265		HGNC	p.Y1823C	rs772770632	TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230638958,T,C&fts=all		Superfamily_domains:SSF56204,SMART_domains:SM00119,Gene3D:1c4zA02,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,PROSITE_profiles:PS50237		Y/C		C	low	5503/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=1636&re=1992&var=Y1775C	tolerated(0.17)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Tyr1775Cys,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Tyr1823Cys,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Tyr1505Cys,ENST00000389045,NM_001284216.1;TRIP12,missense_variant,p.Tyr73Cys,ENST00000418123,;TRIP12,non_coding_transcript_exon_variant,,ENST00000459841,;							MODERATE	5324/5979	Y1775C	TRIPC_HUMAN			Transcript		benign(0.432)	.	ENSP00000283943	8.24E-06	CCDS33391.1			1	
UBE2U	0	LGGM	GRCh37	1	64707379	64707379	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	28	14	.	.	ENST00000371076.3:c.640A>C	p.Lys214Gln	p.K214Q	ENST00000371076	NM_152489.1	214	Aaa/Caa	0	1	1	UPI000006E065	0	NA	ENST00000371076		ENSG00000177414	28559		42	0.145		HGNC	p.K214Q		UBE2U		SNV							ENST00000371077	protein_coding	getma.org/?cm=var&var=hg19,1,64707379,A,C&fts=all				K/Q		C	neutral	884/1136		getma.org/?cm=msa&ty=f&p=UBE2U_HUMAN&rb=171&re=319&var=K214Q	tolerated(0.2)				YES	UBE2U,missense_variant,p.Lys214Gln,ENST00000371077,;UBE2U,missense_variant,p.Lys214Gln,ENST00000371076,NM_152489.1;UBE2U,missense_variant,p.Lys101Gln,ENST00000608020,;UBE2U,missense_variant,p.Lys31Gln,ENST00000608956,;UBE2U,non_coding_transcript_exon_variant,,ENST00000464349,;							MODERATE	640/681	K214Q	UBE2U_HUMAN			Transcript		benign(0.021)	.	ENSP00000360116		CCDS627.1			1	
CASR	0	LGGM	GRCh37	3	122003259	122003259	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	14	.	.	ENST00000498619.1:c.2488T>C	p.Ser830Pro	p.S830P	ENST00000498619	NM_001178065.1	830	Tcc/Ccc	0	1		UPI000013E30B	0	NA	ENST00000490131		ENSG00000036828	1514		43	2.44		HGNC	p.S820P		CASR		SNV			1				ENST00000296154	protein_coding	getma.org/?cm=var&var=hg19,3,122003259,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Pfam_domain:PF00003,Prints_domain:PR00248		S/P		C	medium	2830/3783		getma.org/?cm=msa&ty=f&p=CASR_HUMAN&rb=622&re=860&var=S820P	deleterious(0)	Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN				CASR,missense_variant,p.Ser830Pro,ENST00000498619,NM_001178065.1;CASR,missense_variant,p.Ser820Pro,ENST00000490131,NM_000388.3;CASR,missense_variant,p.Ser820Pro,ENST00000296154,;AC068754.1,downstream_gene_variant,,ENST00000408547,;							MODERATE	2458/3237	S820P	CASR_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000418685		CCDS3010.1			1	
RAD50	0	LGGM	GRCh37	5	131930593	131930593	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	102	14	.	.	ENST00000265335.6:c.1826A>G	p.Asn609Ser	p.N609S	ENST00000265335		609	aAt/aGt	0	1		UPI000006F2C4	0	NA	ENST00000378823		ENSG00000113522	9816		116	1.1		HGNC	p.N548S	rs768404364	RAD50		SNV			1				ENST00000453394	protein_coding	getma.org/?cm=var&var=hg19,5,131930593,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,TIGRFAM_domain:TIGR00606		N/S		G	low	2227/6597	1.50E-05	getma.org/?cm=msa&ty=f&p=RAD50_HUMAN&rb=499&re=657&var=N609S	tolerated(1)					RAD50,missense_variant,p.Asn470Ser,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Asn609Ser,ENST00000265335,;RAD50,missense_variant,p.Asn548Ser,ENST00000453394,;RAD50,downstream_gene_variant,,ENST00000434288,;RAD50,upstream_gene_variant,,ENST00000496204,;RAD50,3_prime_UTR_variant,,ENST00000533482,;RAD50,3_prime_UTR_variant,,ENST00000423956,;							MODERATE	1409/3522	N609S	RAD50_HUMAN			Transcript		benign(0)	.	ENSP00000368100	8.24E-06				1	
ERCC2	0	LGGM	GRCh37	19	45872351	45872351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	47	14	.	.	ENST00000391945.4:c.160G>T	p.Ala54Ser	p.A54S	ENST00000391945	NM_000400.3	54	Gcc/Tcc	0	1	1	UPI0000139012	0	getma.org/pdb.php?prot=ERCC2_HUMAN&from=7&to=283&var=A54S	ENST00000391945		ENSG00000104884	3434		61	-2.495		HGNC	p.A54S		ERCC2		SNV			1				ENST00000391945	protein_coding	getma.org/?cm=var&var=hg19,19,45872351,C,A&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488,Superfamily_domains:SSF52540		A/S		A	neutral	238/4153		getma.org/?cm=msa&ty=f&p=ERCC2_HUMAN&rb=7&re=283&var=A54S	tolerated(1)	K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,missense_variant,p.Ala54Ser,ENST00000391945,NM_000400.3;ERCC2,missense_variant,p.Ala30Ser,ENST00000391941,;ERCC2,missense_variant,p.Ala54Ser,ENST00000391944,;ERCC2,missense_variant,p.Ala30Ser,ENST00000485403,NM_001130867.1;ERCC2,missense_variant,p.Ala30Ser,ENST00000391940,;ERCC2,missense_variant,p.Ala30Ser,ENST00000586131,;ERCC2,missense_variant,p.Ala54Ser,ENST00000221481,;ERCC2,intron_variant,,ENST00000586856,;ERCC2,missense_variant,p.Ala54Ser,ENST00000591309,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586441,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586737,;							MODERATE	160/2283	A54S	ERCC2_HUMAN			Transcript		benign(0.001)	.	ENSP00000375809		CCDS33049.1			1	
CUL5	0	LGGM	GRCh37	11	107944152	107944152	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	36	15	.	.	ENST00000393094.2:c.1041A>G	p.Leu347=	p.L347=	ENST00000393094	NM_003478.3	347	ctA/ctG	0	1	1	UPI00001380B0	0		ENST00000393094		ENSG00000166266	2556		51			HGNC	p.L347L	rs775660861	CUL5		SNV							ENST00000393094	protein_coding			Gene3D:1.20.1310.10,Pfam_domain:PF00888,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF65,Superfamily_domains:SSF74788		L		G		1657/6351	1.53E-05			L0L6D8_HUMAN,L0L6C1_HUMAN			YES	CUL5,synonymous_variant,p.=,ENST00000393094,NM_003478.3;CUL5,non_coding_transcript_exon_variant,,ENST00000531843,;CUL5,synonymous_variant,p.=,ENST00000531427,;							LOW	1041/2343		CUL5_HUMAN			Transcript			.	ENSP00000376808	8.24E-06	CCDS31668.1			1	
UBR4	0	LGGM	GRCh37	1	19499585	19499585	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	13	15	.	.	ENST00000375254.3:c.3294C>G	p.Ile1098Met	p.I1098M	ENST00000375254	NM_020765.2	1098	atC/atG	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		28	0.69		HGNC	p.I1098M		UBR4		SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19499585,G,C&fts=all		hmmpanther:PTHR21725		I/M		C	neutral	3322/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=I1098M		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Ile1098Met,ENST00000375267,;UBR4,missense_variant,p.Ile1098Met,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Ile1098Met,ENST00000375217,;UBR4,missense_variant,p.Ile1098Met,ENST00000375226,;UBR4,splice_region_variant,,ENST00000419533,;							MODERATE	3294/15552	I1098M	UBR4_HUMAN			Transcript		benign(0.145)	.	ENSP00000364403		CCDS189.1			1	
CACNA1G	0	LGGM	GRCh37	17	48703578	48703578	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	15	.	.	ENST00000359106.5:c.6600A>G	p.Pro2200=	p.P2200=	ENST00000359106	NM_018896.4	2200	ccA/ccG	0	1	1	UPI000012727A	0		ENST00000359106		ENSG00000006283	1394		37			HGNC	p.P2050P	rs779931575	CACNA1G		SNV							ENST00000514717	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137		P		G		6600/7648	1.52E-05						YES	CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000442258,;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2,NM_198378.2;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.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,;CACNA1G,intron_variant,,ENST00000358244,;CACNA1G,intron_variant,,ENST00000505165,NM_001256333.1;CACNA1G,intron_variant,,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,;							LOW	6600/7134		CAC1G_HUMAN			Transcript			.	ENSP00000352011	8.26E-06	CCDS45730.1			1	
AFF4	0	LGGM	GRCh37	5	132223792	132223792	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	15	.	.	ENST00000265343.5:c.2793A>G	p.Ala931=	p.A931=	ENST00000265343	NM_014423.3	931	gcA/gcG	0	1	1	UPI000006F558	0		ENST00000265343		ENSG00000072364	17869		37			HGNC	p.A931A		AFF4		SNV			1				ENST00000265343	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF15		A		C		3173/9552				C9JCE0_HUMAN			YES	AFF4,synonymous_variant,p.=,ENST00000265343,NM_014423.3;AFF4,downstream_gene_variant,,ENST00000378595,;							LOW	2793/3492		AFF4_HUMAN			Transcript			.	ENSP00000265343		CCDS4164.1			1	
C2orf80	0	LGGM	GRCh37	2	209051702	209051702	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	22	15	.	.	ENST00000341287.4:c.9A>G	p.Arg3=	p.R3=	ENST00000341287	NM_001099334.2	3	agA/agG	0	1	1	UPI00001D7E1A	0		ENST00000341287		ENSG00000188674	34352		37			HGNC	p.R3R		C2orf80		SNV							ENST00000341287	protein_coding					R		C		205/1238				C9JTX0_HUMAN,C9JAS9_HUMAN			YES	C2orf80,synonymous_variant,p.=,ENST00000341287,NM_001099334.2;C2orf80,synonymous_variant,p.=,ENST00000453017,;C2orf80,synonymous_variant,p.=,ENST00000449053,;C2orf80,5_prime_UTR_variant,,ENST00000423952,;C2orf80,intron_variant,,ENST00000451346,;C2orf80,upstream_gene_variant,,ENST00000428015,;							LOW	9/582		CB080_HUMAN			Transcript			.	ENSP00000343171		CCDS42809.1			1	
DLL1	0	LGGM	GRCh37	6	170592574	170592574	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	28	15	.	.	ENST00000366756.3:c.1793G>A	p.Arg598His	p.R598H	ENST00000366756	NM_005618.3	598	cGt/cAt	0	1	1	UPI000004C656	0	NA	ENST00000366756		ENSG00000198719	2908		43	2.515		HGNC	p.R598H	rs370005717,COSM1487481	DLL1		SNV			1			0,1	ENST00000366756	protein_coding	getma.org/?cm=var&var=hg19,6,170592574,C,T&fts=all		hmmpanther:PTHR24044		R/H		T	medium	2127/3174	4.50E-05	getma.org/?cm=msa&ty=f&p=DLL1_HUMAN&rb=549&re=721&var=R598H	deleterious(0.01)				YES	DLL1,missense_variant,p.Arg598His,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,;					0,1		MODERATE	1793/2172	R598H	DLL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355718	2.47E-05	CCDS5313.1			1	
CEP290	0	LGGM	GRCh37	12	88454615	88454615	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	25	15	.	.	ENST00000552810.1:c.6514A>C	p.Lys2172Gln	p.K2172Q	ENST00000552810	NM_025114.3	2172	Aaa/Caa	0	1	1	UPI0000D60D15	0	NA	ENST00000552810		ENSG00000198707	29021		40	1.7		HGNC	p.K2172Q		CEP290		SNV			1				ENST00000552810	protein_coding	getma.org/?cm=var&var=hg19,12,88454615,T,G&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879		K/Q		G	low	6858/7948		getma.org/?cm=msa&ty=f&p=CE290_HUMAN&rb=1786&re=2419&var=K2172Q					YES	CEP290,missense_variant,p.Lys2172Gln,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Lys2174Gln,ENST00000309041,;CEP290,missense_variant,p.Lys1232Gln,ENST00000397838,;CEP290,missense_variant,p.Lys1232Gln,ENST00000547691,;RP11-474L23.3,upstream_gene_variant,,ENST00000549191,;							MODERATE	6514/7440	K2172Q	CE290_HUMAN			Transcript		benign(0.035)	.	ENSP00000448012		CCDS55858.1			1	
IL1RL1	0	LGGM	GRCh37	2	102968088	102968088	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	25	15	.	.	ENST00000233954.1:c.1378T>C	p.Tyr460His	p.Y460H	ENST00000233954	NM_016232.4	460	Tac/Cac	0	1	1	UPI000013C992	0	getma.org/pdb.php?prot=ILRL1_HUMAN&from=379&to=534&var=Y460H	ENST00000233954		ENSG00000115602	5998		40	2.34		HGNC	p.Y460H		IL1RL1		SNV							ENST00000233954	protein_coding	getma.org/?cm=var&var=hg19,2,102968088,T,C&fts=all		PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF7,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200		Y/H		C	medium	1649/2058		getma.org/?cm=msa&ty=f&p=ILRL1_HUMAN&rb=379&re=534&var=Y460H	deleterious(0)	C9JSY6_HUMAN,A8VPX0_HUMAN			YES	IL1RL1,missense_variant,p.Tyr460His,ENST00000233954,NM_016232.4;IL18R1,intron_variant,,ENST00000410040,;IL18R1,upstream_gene_variant,,ENST00000409599,;IL18R1,upstream_gene_variant,,ENST00000466357,;							MODERATE	1378/1671	Y460H	ILRL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000233954		CCDS2057.1			1	
NOL8	0	LGGM	GRCh37	9	95060544	95060544	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	16	15	.	.	ENST00000545558.1:c.3448C>T	p.Arg1150Cys	p.R1150C	ENST00000545558		1150	Cgt/Tgt	0	1		UPI0000211A3D	0	NA	ENST00000442668		ENSG00000198000	23387		31	1.735		HGNC	p.R1112C	rs759588984	NOL8		SNV							ENST00000535387	protein_coding	getma.org/?cm=var&var=hg19,9,95060544,G,A&fts=all		hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8		R/C		A	low	3747/4281	2.99E-05	getma.org/?cm=msa&ty=f&p=NOL8_HUMAN&rb=1084&re=1167&var=R1150C	deleterious(0.02)	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN				NOL8,missense_variant,p.Arg1150Cys,ENST00000545558,;NOL8,missense_variant,p.Arg1150Cys,ENST00000442668,NM_017948.5;NOL8,missense_variant,p.Arg1082Cys,ENST00000358855,NM_001256394.1;NOL8,missense_variant,p.Arg1082Cys,ENST00000542053,;NOL8,missense_variant,p.Arg1112Cys,ENST00000535387,;IARS,upstream_gene_variant,,ENST00000375643,NM_013417.3;IARS,upstream_gene_variant,,ENST00000443024,NM_002161.5;IARS,upstream_gene_variant,,ENST00000375629,;IARS,upstream_gene_variant,,ENST00000447699,;NOL8,downstream_gene_variant,,ENST00000432670,;IARS,upstream_gene_variant,,ENST00000395554,;IARS,upstream_gene_variant,,ENST00000430417,;IARS,upstream_gene_variant,,ENST00000490438,;NOL8,downstream_gene_variant,,ENST00000477862,;NOL8,3_prime_UTR_variant,,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000545444,;NOL8,non_coding_transcript_exon_variant,,ENST00000463593,;							MODERATE	3448/3504	R1150C	NOL8_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000401177	8.28E-06	CCDS47993.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266112	41266112	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	24	15	.	.	ENST00000349496.5:c.109T>G	p.Ser37Ala	p.S37A	ENST00000349496	NM_001904.3	37	Tct/Gct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37A	ENST00000349496		ENSG00000168036	2514		39	2.485		HGNC	p.S37A	rs121913228,COSM5675	CTNNB1		SNV			1			0,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266112,T,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/A		G	medium	389/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Ala,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Ala,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	109/2346	S37A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
NFE2L2	0	LGGM	GRCh37	2	178098800	178098800	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	16	.	.	ENST00000397062.3:c.245A>C	p.Glu82Ala	p.E82A	ENST00000397062	NM_006164.4	82	gAa/gCa	0	1	1	UPI000012FFD0	0	NA	ENST00000397062		ENSG00000116044	7782		45	2.865		HGNC	p.E81A	COSM1631471	NFE2L2		SNV						1	ENST00000586532	protein_coding	getma.org/?cm=var&var=hg19,2,178098800,T,G&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3		E/A		G	medium	800/2853		getma.org/?cm=msa&ty=f&p=NF2L2_HUMAN&rb=1&re=200&var=E82A	deleterious(0)	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN			YES	NFE2L2,missense_variant,p.Glu82Ala,ENST00000397062,NM_006164.4;NFE2L2,missense_variant,p.Glu66Ala,ENST00000464747,;NFE2L2,missense_variant,p.Glu66Ala,ENST00000397063,NM_001145412.2,NM_001145413.2;NFE2L2,missense_variant,p.Glu66Ala,ENST00000446151,;NFE2L2,missense_variant,p.Glu66Ala,ENST00000423513,;NFE2L2,missense_variant,p.Glu66Ala,ENST00000421929,;NFE2L2,missense_variant,p.Glu66Ala,ENST00000448782,;NFE2L2,missense_variant,p.Glu81Ala,ENST00000586532,;NFE2L2,missense_variant,p.Glu66Ala,ENST00000588123,;NFE2L2,splice_region_variant,,ENST00000449627,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;					1		MODERATE	245/1818	E82A	NF2L2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380252		CCDS42782.1			1	
GABPA	0	LGGM	GRCh37	21	27136622	27136622	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	28	17	.	.	ENST00000354828.3:c.904A>G	p.Ile302Val	p.I302V	ENST00000354828	NM_001197297.1	302	Att/Gtt	0	1	1	UPI000012AFB2	0	NA	ENST00000354828		ENSG00000154727	4071		45	0.805		HGNC	p.I302V		GABPA		SNV							ENST00000400075	protein_coding	getma.org/?cm=var&var=hg19,21,27136622,A,G&fts=all		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF28,Gene3D:1.10.10.10,PIRSF_domain:PIRSF001703		I/V		G	low	1431/5120		getma.org/?cm=msa&ty=f&p=GABPA_HUMAN&rb=252&re=318&var=I302V	tolerated(0.24)	A8IE48_HUMAN			YES	GABPA,missense_variant,p.Ile302Val,ENST00000354828,NM_001197297.1;GABPA,missense_variant,p.Ile302Val,ENST00000400075,NM_002040.3;AP000226.9,upstream_gene_variant,,ENST00000436405,;							MODERATE	904/1365	I302V	GABPA_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000346886		CCDS13575.1			1	
COG8	0	LGGM	GRCh37	16	69368796	69368796	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	20	17	.	.	ENST00000306875.4:c.1041C>A	p.Gly347=	p.G347=	ENST00000306875	NM_032382.4	347	ggC/ggA	0	1	1	UPI000013EBA1	0		ENST00000306875		ENSG00000213380	18623		37			HGNC	p.G347G		COG8		SNV			1				ENST00000562081	protein_coding			hmmpanther:PTHR21311,hmmpanther:PTHR21311:SF0,Pfam_domain:PF04124,PIRSF_domain:PIRSF015415,Superfamily_domains:SSF74788		G		T		1156/4247				J3QRV3_HUMAN,B4DYU2_HUMAN			YES	COG8,synonymous_variant,p.=,ENST00000306875,NM_032382.4;COG8,synonymous_variant,p.=,ENST00000562081,;COG8,intron_variant,,ENST00000562595,;NIP7,upstream_gene_variant,,ENST00000254940,NM_016101.4;NIP7,upstream_gene_variant,,ENST00000254941,NM_001199434.1;PDF,upstream_gene_variant,,ENST00000288022,NM_022341.1;NIP7,upstream_gene_variant,,ENST00000569637,;RP11-343C2.12,upstream_gene_variant,,ENST00000562949,;COG8,downstream_gene_variant,,ENST00000567493,;RP11-343C2.9,downstream_gene_variant,,ENST00000563634,;RP11-343C2.7,downstream_gene_variant,,ENST00000564737,;NIP7,upstream_gene_variant,,ENST00000565034,;RP11-343C2.7,downstream_gene_variant,,ENST00000570293,;							LOW	1041/1839		COG8_HUMAN			Transcript			.	ENSP00000305459		CCDS10876.1			1	
DRD1	0	LGGM	GRCh37	5	174869436	174869436	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	31	17	.	.	ENST00000393752.2:c.667A>G	p.Lys223Glu	p.K223E	ENST00000393752	NM_000794.3	223	Aaa/Gaa	0	1	1	UPI00000503F5	0	getma.org/pdb.php?prot=DRD1_HUMAN&from=40&to=331&var=K223E	ENST00000393752		ENSG00000184845	3020		48	1.535		HGNC	p.K223E		DRD1		SNV							ENST00000329144	protein_coding	getma.org/?cm=var&var=hg19,5,174869436,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,Superfamily_domains:SSF81321		K/E		C	low	1660/4054		getma.org/?cm=msa&ty=f&p=DRD1_HUMAN&rb=40&re=331&var=K223E	tolerated(1)				YES	DRD1,missense_variant,p.Lys223Glu,ENST00000393752,NM_000794.3;							MODERATE	667/1341	K223E	DRD1_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000377353		CCDS4393.1			1	
TTC21B	0	LGGM	GRCh37	2	166785800	166785800	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	26	18	.	.	ENST00000243344.7:c.1231C>T	p.Arg411Ter	p.R411*	ENST00000243344	NM_024753.4	411	Cga/Tga	0	1	1	UPI000020900A	0	NA	ENST00000243344	pathogenic	ENSG00000123607	25660		44	0		HGNC	p.R411X	rs185089786	TTC21B		SNV	C:0		1			1	ENST00000243344	protein_coding	getma.org/?cm=var&var=hg19,2,166785800,G,A&fts=all	C:0	hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1		R/*	C:0.0001	A	NA	1369/5482	1.58E-05	NA		B3KU32_HUMAN	C:0	C:0	YES	TTC21B,stop_gained,p.Arg411Ter,ENST00000243344,NM_024753.4;TTC21B-AS1,upstream_gene_variant,,ENST00000440322,;TTC21B-AS1,upstream_gene_variant,,ENST00000443032,;TTC21B,non_coding_transcript_exon_variant,,ENST00000464374,;TTC21B-AS1,upstream_gene_variant,,ENST00000446624,;		C:0.0002					HIGH	1231/3951	R411*	TT21B_HUMAN		C:0.001	Transcript			.	ENSP00000243344	8.24E-06	CCDS33315.1		C:0	1	
SLC28A1	0	LGGM	GRCh37	15	85476454	85476454	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	36	18	.	.	ENST00000394573.1:c.1162G>A	p.Glu388Lys	p.E388K	ENST00000394573	NM_004213.3	388	Gag/Aag	0	1		UPI000013DE67	0	getma.org/pdb.php?prot=S28A1_HUMAN&from=366&to=591&var=E388K	ENST00000286749		ENSG00000156222	11001		54	4.02		HGNC	p.E388K		SLC28A1		SNV							ENST00000286749	protein_coding	getma.org/?cm=var&var=hg19,15,85476454,G,A&fts=all		Pfam_domain:PF07662,hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12,TIGRFAM_domain:TIGR00804		E/K		A	high	1252/2636		getma.org/?cm=msa&ty=f&p=S28A1_HUMAN&rb=366&re=591&var=E388K	deleterious(0)					SLC28A1,missense_variant,p.Glu388Lys,ENST00000394573,NM_004213.3;SLC28A1,missense_variant,p.Glu388Lys,ENST00000286749,NM_001287762.1;SLC28A1,missense_variant,p.Glu388Lys,ENST00000537624,;SLC28A1,missense_variant,p.Glu388Lys,ENST00000537216,;SLC28A1,intron_variant,,ENST00000538177,NM_001287761.1;							MODERATE	1162/1950	E388K	S28A1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000286749		CCDS10334.1			1	
LAPTM4B	0	LGGM	GRCh37	8	98837289	98837289	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	49	18	.	.	ENST00000445593.2:c.784T>C	p.Tyr262His	p.Y262H	ENST00000445593	NM_018407.4	262	Tac/Cac	0	1	1	UPI000018F5E2	0	NA	ENST00000445593		ENSG00000104341	13646		67	2.73		HGNC	p.Y171H		LAPTM4B		SNV							ENST00000521545	protein_coding	getma.org/?cm=var&var=hg19,8,98837289,T,C&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF03821,hmmpanther:PTHR12479,hmmpanther:PTHR12479:SF6		Y/H		C	medium	1464/3173		getma.org/?cm=msa&ty=f&p=LAP4B_HUMAN&rb=165&re=370&var=Y315H	deleterious(0)	Q86SJ0_HUMAN			YES	LAPTM4B,missense_variant,p.Tyr262His,ENST00000445593,NM_018407.4;LAPTM4B,missense_variant,p.Tyr171His,ENST00000521545,;							MODERATE	784/954	Y315H	LAP4B_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000402301		CCDS6275.1			1	
ZBTB5	0	LGGM	GRCh37	9	37441531	37441550	+	frameshift_variant	Frame_Shift_Del	DEL	GAGGCTCAGGTGAGCTCAGG	GAGGCTCAGGTGAGCTCAGG	-	novel	by Submitter	H080025	H080025N.bam	GAGGCTCAGGTGAGCTCAGG	GAGGCTCAGGTGAGCTCAGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	18	.	.	ENST00000307750.4:c.999_1018del	p.Leu334GlyfsTer2	p.L334Gfs*2	ENST00000307750	NM_014872.2	333	ccCCTGAGCTCACCTGAGCCTCag/ccag	0	1	1	UPI000006FAE2	0		ENST00000307750		ENSG00000168795	23836		51			HGNC	p.333_340del		ZBTB5		deletion							ENST00000307750	protein_coding			hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF68		PLSSPEPQ/PX		-		1188-1207/4627				Q5T942_HUMAN			YES	ZBTB5,frameshift_variant,p.Leu334GlyfsTer2,ENST00000307750,NM_014872.2;GRHPR,downstream_gene_variant,,ENST00000318158,NM_012203.1;GRHPR,downstream_gene_variant,,ENST00000460882,;GRHPR,downstream_gene_variant,,ENST00000491488,;GRHPR,downstream_gene_variant,,ENST00000497693,;GRHPR,downstream_gene_variant,,ENST00000480596,;GRHPR,downstream_gene_variant,,ENST00000494290,;							HIGH	999-1018/2034		ZBTB5_HUMAN			Transcript			.	ENSP00000307604		CCDS6610.1			1	
TXNDC11	0	LGGM	GRCh37	16	11782257	11782257	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	52	19	.	.	ENST00000283033.5:c.1945A>G	p.Arg649Gly	p.R649G	ENST00000283033	NM_015914.5	649	Agg/Ggg	0	1		UPI000041D75B	0	getma.org/pdb.php?prot=TXD11_HUMAN&from=649&to=799&var=R676G	ENST00000356957		ENSG00000153066	28030		71	2.165		HGNC	p.R676G		TXNDC11		SNV							ENST00000356957	protein_coding	getma.org/?cm=var&var=hg19,16,11782257,T,C&fts=all		PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF57		R/G		C	medium	2134/3178		getma.org/?cm=msa&ty=f&p=TXD11_HUMAN&rb=649&re=799&var=R676G	deleterious(0.01)					TXNDC11,missense_variant,p.Arg676Gly,ENST00000356957,;TXNDC11,missense_variant,p.Arg649Gly,ENST00000283033,NM_015914.5;TXNDC11,downstream_gene_variant,,ENST00000575591,;TXNDC11,non_coding_transcript_exon_variant,,ENST00000570917,;TXNDC11,non_coding_transcript_exon_variant,,ENST00000575349,;TXNDC11,downstream_gene_variant,,ENST00000572732,;TXNDC11,downstream_gene_variant,,ENST00000576969,;TXNDC11,downstream_gene_variant,,ENST00000571882,;							MODERATE	2026/2958	R676G	TXD11_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349439					1	
SCRIB	0	LGGM	GRCh37	8	144894545	144894545	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	38	19	.	.	ENST00000356994.2:c.797A>G	p.Lys266Arg	p.K266R	ENST00000356994	NM_182706.4	266	aAg/aGg	0	1		UPI00001408BD	0	getma.org/pdb.php?prot=SCRIB_HUMAN&from=240&to=439&var=K266R	ENST00000320476		ENSG00000180900	30377		57	0.38		HGNC	p.K266R		SCRIB		SNV			1				ENST00000356994	protein_coding	getma.org/?cm=var&var=hg19,8,144894545,T,C&fts=all		hmmpanther:PTHR23155:SF412,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00364,Superfamily_domains:SSF52058,Superfamily_domains:SSF52058		K/R		C	neutral	804/5143		getma.org/?cm=msa&ty=f&p=SCRIB_HUMAN&rb=240&re=439&var=K266R						SCRIB,missense_variant,p.Lys266Arg,ENST00000356994,NM_182706.4;SCRIB,missense_variant,p.Lys266Arg,ENST00000320476,NM_015356.4;SCRIB,missense_variant,p.Lys185Arg,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000526683,NM_001271098.1,NM_078480.2;PUF60,downstream_gene_variant,,ENST00000453551,NM_001136033.2;PUF60,downstream_gene_variant,,ENST00000349157,NM_014281.4,NM_001271096.1;PUF60,downstream_gene_variant,,ENST00000313352,NM_001271100.1;PUF60,downstream_gene_variant,,ENST00000456095,NM_001271099.1;PUF60,downstream_gene_variant,,ENST00000527197,NM_001271097.1;PUF60,downstream_gene_variant,,ENST00000532884,;SCRIB,upstream_gene_variant,,ENST00000531942,;MIR937,downstream_gene_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000524570,;							MODERATE	797/4893	K266R	SCRIB_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000322938		CCDS6411.1			1	
PIK3R1	0	LGGM	GRCh37	5	67575539	67575539	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	57	19	.	.	ENST00000274335.5:c.612T>G	p.Ser204Arg	p.S204R	ENST00000274335		204	agT/agG	0	1	1	UPI000013D9FF	0	getma.org/pdb.php?prot=P85A_HUMAN&from=129&to=282&var=S204R	ENST00000521381		ENSG00000145675	8979		76	1.4		HGNC	p.S204R		PIK3R1		SNV			1				ENST00000396611	protein_coding	getma.org/?cm=var&var=hg19,5,67575539,T,G&fts=all		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,SMART_domains:SM00324,Superfamily_domains:SSF48350		S/R		G	low	1228/7011		getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=129&re=282&var=S204R	tolerated(0.46)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN			YES	PIK3R1,missense_variant,p.Ser204Arg,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Ser204Arg,ENST00000396611,;PIK3R1,missense_variant,p.Ser204Arg,ENST00000274335,;PIK3R1,missense_variant,p.Ser204Arg,ENST00000521657,;PIK3R1,missense_variant,p.Ser106Arg,ENST00000520675,;PIK3R1,upstream_gene_variant,,ENST00000522084,;PIK3R1,upstream_gene_variant,,ENST00000523807,;							MODERATE	612/2175	S204R	P85A_HUMAN			Transcript		benign(0.001)	.	ENSP00000428056		CCDS3993.1			1	
ZFYVE1	0	LGGM	GRCh37	14	73444902	73444902	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	29	19	.	.	ENST00000556143.1:c.1460A>G	p.Lys487Arg	p.K487R	ENST00000556143	NM_021260.2	487	aAa/aGa	0	1	1	UPI0000049888	0	NA	ENST00000556143		ENSG00000165861	13180		48	1.78		HGNC	p.K487R		ZFYVE1		SNV							ENST00000553891	protein_coding	getma.org/?cm=var&var=hg19,14,73444902,T,C&fts=all		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF151		K/R		C	low	2181/4485		getma.org/?cm=msa&ty=f&p=ZFYV1_HUMAN&rb=131&re=565&var=K487R	tolerated(0.18)				YES	ZFYVE1,missense_variant,p.Lys487Arg,ENST00000556143,NM_021260.2,NM_001281735.1;ZFYVE1,missense_variant,p.Lys487Arg,ENST00000318876,NM_001281734.1;ZFYVE1,missense_variant,p.Lys487Arg,ENST00000553891,;ZFYVE1,missense_variant,p.Lys72Arg,ENST00000555072,;ZFYVE1,missense_variant,p.Lys72Arg,ENST00000394207,NM_178441.1;ZFYVE1,intron_variant,,ENST00000554145,;ZFYVE1,non_coding_transcript_exon_variant,,ENST00000554250,;ZFYVE1,upstream_gene_variant,,ENST00000556040,;ZFYVE1,upstream_gene_variant,,ENST00000556761,;							MODERATE	1460/2334	K487R	ZFYV1_HUMAN			Transcript		benign(0.021)	.	ENSP00000450742		CCDS9811.1			1	
DST	0	LGGM	GRCh37	6	56437717	56437717	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	52	19	.	.	ENST00000244364.6:c.5513C>T	p.Ala1838Val	p.A1838V	ENST00000244364	NM_015548.4	1838	gCa/gTa	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		71	1.725		HGNC	p.A1838V		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56437717,G,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		A/V		A	low	5721/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=4154&re=4353&var=A4250V		Q86T18_HUMAN			YES	DST,missense_variant,p.Ala4430Val,ENST00000370754,;DST,missense_variant,p.Ala4252Val,ENST00000370769,;DST,missense_variant,p.Ala3926Val,ENST00000446842,;DST,missense_variant,p.Ala4250Val,ENST00000361203,;DST,missense_variant,p.Ala2164Val,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Ala2164Val,ENST00000421834,;DST,missense_variant,p.Ala1838Val,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,3_prime_UTR_variant,,ENST00000518398,;							MODERATE	5513/15516	A4250V	DYST_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000244364		CCDS47443.1			1	
SNX13	0	LGGM	GRCh37	7	17874447	17874447	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	57	20	.	.	ENST00000428135.3:c.1401A>G	p.Lys467=	p.K467=	ENST00000428135	NM_015132.4	467	aaA/aaG	0	1	1	UPI000002B3E8	0		ENST00000428135		ENSG00000071189	21335		77			HGNC	p.K467K		SNX13		SNV							ENST00000428135	protein_coding			Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26,SMART_domains:SM00315,Superfamily_domains:SSF48097		K		C		1600/6357				B3KN60_HUMAN			YES	SNX13,synonymous_variant,p.=,ENST00000409389,;SNX13,synonymous_variant,p.=,ENST00000428135,NM_015132.4;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;							LOW	1401/2874		SNX13_HUMAN			Transcript			.	ENSP00000398789		CCDS47551.1			1	
TM7SF2	0	LGGM	GRCh37	11	64880829	64880829	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	20	.	.	ENST00000279263.7:c.442C>T	p.Leu148Phe	p.L148F	ENST00000279263	NM_003273.3	148	Ctc/Ttc	0	1	1	UPI000013DBC4	0	NA	ENST00000279263		ENSG00000149809	11863		60	2.86		HGNC	p.L148F		TM7SF2		SNV							ENST00000529414	protein_coding	getma.org/?cm=var&var=hg19,11,64880829,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR21257,Pfam_domain:PF01222		L/F		T	medium	604/1722		getma.org/?cm=msa&ty=f&p=ERG24_HUMAN&rb=43&re=418&var=L148F	deleterious(0)	F5GYV3_HUMAN,E9PRQ1_HUMAN,E9PLI3_HUMAN			YES	TM7SF2,missense_variant,p.Leu148Phe,ENST00000279263,NM_003273.3;TM7SF2,missense_variant,p.Leu32Phe,ENST00000540748,;TM7SF2,missense_variant,p.Leu148Phe,ENST00000345348,NM_001277233.1;TM7SF2,missense_variant,p.Leu119Phe,ENST00000525385,;TM7SF2,missense_variant,p.Leu148Phe,ENST00000529414,;TM7SF2,missense_variant,p.Leu119Phe,ENST00000524986,;TM7SF2,intron_variant,,ENST00000531321,;TM7SF2,intron_variant,,ENST00000534371,;TM7SF2,intron_variant,,ENST00000526809,;TM7SF2,intron_variant,,ENST00000526085,;TM7SF2,intron_variant,,ENST00000530750,;VPS51,downstream_gene_variant,,ENST00000279281,NM_013265.3;ZNHIT2,downstream_gene_variant,,ENST00000310597,NM_014205.2;VPS51,downstream_gene_variant,,ENST00000529180,;VPS51,downstream_gene_variant,,ENST00000534557,;TM7SF2,upstream_gene_variant,,ENST00000528802,;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000530673,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;TM7SF2,upstream_gene_variant,,ENST00000527968,;AP003068.9,upstream_gene_variant,,ENST00000528887,;AP003068.12,upstream_gene_variant,,ENST00000527789,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000531029,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,downstream_gene_variant,,ENST00000533646,;TM7SF2,3_prime_UTR_variant,,ENST00000529601,;TM7SF2,3_prime_UTR_variant,,ENST00000524690,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530650,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533766,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000527851,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530892,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000534667,;TM7SF2,intron_variant,,ENST00000529292,;TM7SF2,intron_variant,,ENST00000529233,;TM7SF2,intron_variant,,ENST00000528026,;VPS51,downstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;VPS51,downstream_gene_variant,,ENST00000531146,;TM7SF2,upstream_gene_variant,,ENST00000532328,;							MODERATE	442/1257	L148F	ERG24_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000279263		CCDS41669.1			1	
PCDHA2	0	LGGM	GRCh37	5	140176518	140176518	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	24	20	.	.	ENST00000526136.1:c.1969C>G	p.Pro657Ala	p.P657A	ENST00000526136	NM_018905.2	657	Cca/Gca	0	1	1	UPI00001273C9	0	getma.org/pdb.php?prot=PCDA2_HUMAN&from=578&to=670&var=P657A	ENST00000526136		ENSG00000204969	8668		44	3.485		HGNC	p.P657A		PCDHA2		SNV							ENST00000378132	protein_coding	getma.org/?cm=var&var=hg19,5,140176518,C,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/A		G	medium	1969/5254		getma.org/?cm=msa&ty=f&p=PCDA2_HUMAN&rb=578&re=670&var=P657A	deleterious_low_confidence(0)				YES	PCDHA2,missense_variant,p.Pro657Ala,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Pro657Ala,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Pro657Ala,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;							MODERATE	1969/2847	P657A	PCDA2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000431748		CCDS54914.1			1	
IGKV1D-13	0	LGGM	GRCh37	2	90193166	90193166	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	55	21	.	.	ENST00000390275.2:c.93C>G	p.Ser31=	p.S31=	ENST00000390275		31	tcC/tcG	0	1	1	UPI0000115E40	0		ENST00000390275		ENSG00000211630	5747		76			HGNC	p.S31S		IGKV1D-13		SNV							ENST00000390275	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		G		273/531							YES	IGKV1D-13,synonymous_variant,p.=,ENST00000390275,;							LOW	93/351					Transcript			.	ENSP00000374810					1	
MED13	0	LGGM	GRCh37	17	60043876	60043876	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	62	21	.	.	ENST00000397786.2:c.4328A>G	p.Asn1443Ser	p.N1443S	ENST00000397786	NM_005121.2	1443	aAt/aGt	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474	8.64E-05	83	-0.27		HGNC	p.N1443S	rs778663455	MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60043876,T,C&fts=all		hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		N/S		C	neutral	4405/10465	1.50E-05	getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=1385&re=1584&var=N1443S	tolerated(0.92)				YES	MED13,missense_variant,p.Asn1443Ser,ENST00000397786,NM_005121.2;							MODERATE	4328/6525	N1443S	MED13_HUMAN			Transcript		benign(0.002)	.	ENSP00000380888	1.66E-05	CCDS42366.1			1	
FAM105B	0	LGGM	GRCh37	5	14673784	14673784	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	21	.	.	ENST00000284274.4:c.186A>G	p.Ile62Met	p.I62M	ENST00000284274	NM_138348.4	62	atA/atG	0	1	1	UPI0000374C00	0	NA	ENST00000284274		ENSG00000154124	25118		63	0.55		HGNC	p.I62M		FAM105B		SNV							ENST00000284274	protein_coding	getma.org/?cm=var&var=hg19,5,14673784,A,G&fts=all		Low_complexity_(Seg):seg,Prints_domain:PR02057		I/M		G	neutral	264/7800		getma.org/?cm=msa&ty=f&p=F105B_HUMAN&rb=52&re=92&var=I62M	deleterious(0.01)				YES	FAM105B,missense_variant,p.Ile62Met,ENST00000284274,NM_138348.4;FAM105B,non_coding_transcript_exon_variant,,ENST00000507335,;FAM105B,intron_variant,,ENST00000503023,;							MODERATE	186/1059	I62M	OTUL_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000284274		CCDS43302.1			1	
NPNT	0	LGGM	GRCh37	4	106863806	106863806	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	42	21	.	.	ENST00000427316.2:c.1196C>G	p.Thr399Arg	p.T399R	ENST00000427316	NM_001184691.1	399	aCa/aGa	0	1		UPI00001612DF	0	NA	ENST00000379987		ENSG00000168743	27405		63	0.975		HGNC	p.T369R		NPNT		SNV							ENST00000514622	protein_coding	getma.org/?cm=var&var=hg19,4,106863806,C,G&fts=all		hmmpanther:PTHR24050,hmmpanther:PTHR24050:SF19		T/R		G	low	1322/4598		getma.org/?cm=msa&ty=f&p=NPNT_HUMAN&rb=254&re=421&var=T369R	tolerated(0.11)	D6RE63_HUMAN				NPNT,missense_variant,p.Thr369Arg,ENST00000379987,NM_001033047.2;NPNT,missense_variant,p.Thr369Arg,ENST00000305572,NM_001184692.1;NPNT,missense_variant,p.Thr399Arg,ENST00000427316,NM_001184691.1;NPNT,missense_variant,p.Thr386Arg,ENST00000453617,NM_001184690.1;NPNT,missense_variant,p.Thr369Arg,ENST00000514622,;NPNT,missense_variant,p.Thr399Arg,ENST00000506666,NM_001184693.1;NPNT,missense_variant,p.Thr416Arg,ENST00000503451,;NPNT,missense_variant,p.Thr346Arg,ENST00000514837,;NPNT,downstream_gene_variant,,ENST00000504304,;NPNT,downstream_gene_variant,,ENST00000513430,;NPNT,downstream_gene_variant,,ENST00000505821,;NPNT,downstream_gene_variant,,ENST00000506056,;							MODERATE	1106/1698	T369R	NPNT_HUMAN			Transcript		benign(0.021)	.	ENSP00000369323		CCDS34046.1			1	
GDF5	0	LGGM	GRCh37	20	34022537	34022537	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	45	23	.	.	ENST00000374372.1:c.676A>T	p.Ile226Phe	p.I226F	ENST00000374372		226	Att/Ttt	0	1		UPI000002E33B	0	NA	ENST00000374369		ENSG00000125965	4220		68	2.015		HGNC	p.M194K	rs755592243	GDF5	6.10E-05	SNV			1				ENST00000374375	protein_coding	getma.org/?cm=var&var=hg19,20,34022537,T,A&fts=all		hmmpanther:PTHR11848:SF44,hmmpanther:PTHR11848,Pfam_domain:PF00688		I/F		A	medium	991/2383		getma.org/?cm=msa&ty=f&p=GDF5_HUMAN&rb=141&re=345&var=I226F	deleterious(0)	D3YR76_HUMAN,D3YQT0_HUMAN				GDF5,missense_variant,p.Ile226Phe,ENST00000374372,;GDF5,missense_variant,p.Ile226Phe,ENST00000374369,NM_000557.2;GDF5OS,missense_variant,p.Met194Lys,ENST00000374375,;							MODERATE	676/1506	I226F	GDF5_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000363489	8.24E-06	CCDS13254.1			1	
ZNF460	0	LGGM	GRCh37	19	57802376	57802376	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	52	23	.	.	ENST00000360338.3:c.467A>G	p.Tyr156Cys	p.Y156C	ENST00000360338	NM_006635.3	156	tAt/tGt	0	1	1	UPI0000202D11	0	NA	ENST00000360338		ENSG00000197714	21628		75	-0.205		HGNC	p.Y115C		ZNF460		SNV							ENST00000599602	protein_coding	getma.org/?cm=var&var=hg19,19,57802376,A,G&fts=all		hmmpanther:PTHR24384:SF15,hmmpanther:PTHR24384		Y/C		G	neutral	789/3350		getma.org/?cm=msa&ty=f&p=ZN460_HUMAN&rb=54&re=182&var=Y156C	tolerated(0.4)	M0R0J6_HUMAN,B4DNX9_HUMAN			YES	ZNF460,missense_variant,p.Tyr156Cys,ENST00000360338,NM_006635.3;ZNF460,missense_variant,p.Tyr115Cys,ENST00000537645,;ZNF460,missense_variant,p.Tyr115Cys,ENST00000599602,;							MODERATE	467/1689	Y156C	ZN460_HUMAN			Transcript		benign(0.001)	.	ENSP00000353491		CCDS12949.1			1	
TMED3	0	LGGM	GRCh37	15	79606198	79606198	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	33	23	.	.	ENST00000299705.5:c.268T>C	p.Tyr90His	p.Y90H	ENST00000299705	NM_007364.2	90	Tac/Cac	0	1	1	UPI0000048ED6	0	NA	ENST00000299705		ENSG00000166557	28889		56	-1.81		HGNC	p.Y90H		TMED3		SNV							ENST00000543455	protein_coding	getma.org/?cm=var&var=hg19,15,79606198,T,C&fts=all		PROSITE_profiles:PS50866,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF60,Pfam_domain:PF01105,Superfamily_domains:0041713		Y/H		C	neutral	456/1475		getma.org/?cm=msa&ty=f&p=TMED3_HUMAN&rb=28&re=206&var=Y90H	tolerated(0.6)	Q9UMB6_HUMAN			YES	TMED3,missense_variant,p.Tyr90His,ENST00000299705,NM_007364.2;TMED3,missense_variant,p.Tyr90His,ENST00000424155,;TMED3,missense_variant,p.Tyr90His,ENST00000536821,;TMED3,upstream_gene_variant,,ENST00000558562,;TMED3,missense_variant,p.Tyr90His,ENST00000543455,;							MODERATE	268/654	Y90H	TMED3_HUMAN			Transcript		benign(0)	.	ENSP00000299705		CCDS10310.1			1	
VWF	0	LGGM	GRCh37	12	6219635	6219635	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	65	24	.	.	ENST00000261405.5:c.437T>G	p.Phe146Cys	p.F146C	ENST00000261405	NM_000552.3	146	tTt/tGt	0	1	1	UPI00001AE7EE	0	NA	ENST00000261405		ENSG00000110799	12726		89	1.63		HGNC	p.F146C		VWF		SNV			1				ENST00000261405	protein_coding	getma.org/?cm=var&var=hg19,12,6219635,A,C&fts=all		Pfam_domain:PF00094,PIRSF_domain:PIRSF002495,PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00216		F/C		C	low	692/8838		getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=35&re=179&var=F146C	deleterious(0)	H2DLA2_HUMAN			YES	VWF,missense_variant,p.Phe146Cys,ENST00000261405,NM_000552.3;VWF,missense_variant,p.Phe183Cys,ENST00000572068,;VWF,intron_variant,,ENST00000538635,;VWF,3_prime_UTR_variant,,ENST00000321023,;							MODERATE	437/8442	F146C	VWF_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000261405		CCDS8539.1			1	
MC4R	0	LGGM	GRCh37	18	58038948	58038948	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	31	24	.	.	ENST00000299766.3:c.635A>G	p.Tyr212Cys	p.Y212C	ENST00000299766	NM_005912.2	212	tAt/tGt	0	1	1	UPI000013E5E3	0	getma.org/pdb.php?prot=MC4R_HUMAN&from=61&to=302&var=Y212C	ENST00000299766		ENSG00000166603	6932		55	4.3		HGNC	p.Y212C		MC4R		SNV			1				ENST00000299766	protein_coding	getma.org/?cm=var&var=hg19,18,58038948,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		Y/C		C	high	1054/1438		getma.org/?cm=msa&ty=f&p=MC4R_HUMAN&rb=61&re=302&var=Y212C	deleterious(0)	K4N7A9_HUMAN,A0N0W8_HUMAN			YES	MC4R,missense_variant,p.Tyr212Cys,ENST00000299766,NM_005912.2;							MODERATE	635/999	Y212C	MC4R_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000299766		CCDS11976.1			1	
XPC	0	LGGM	GRCh37	3	14197889	14197889	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	50	25	.	.	ENST00000285021.7:c.1979A>G	p.Tyr660Cys	p.Y660C	ENST00000285021	NM_004628.4	660	tAt/tGt	0	1	1	UPI000196375E	0	NA	ENST00000285021		ENSG00000154767	12816		75	3.385		HGNC	p.Y623C		XPC		SNV			1				ENST00000449060	protein_coding	getma.org/?cm=var&var=hg19,3,14197889,T,C&fts=all		hmmpanther:PTHR12135,hmmpanther:PTHR12135:SF0,Pfam_domain:PF10403,TIGRFAM_domain:TIGR00605,SMART_domains:SM01030		Y/C		C	medium	2194/3832		getma.org/?cm=msa&ty=f&p=XPC_HUMAN&rb=629&re=682&var=Y660C	deleterious(0)	D2CPK4_HUMAN,D2CPK2_HUMAN,D2CPK1_HUMAN,D2CPJ8_HUMAN,D2CPJ3_HUMAN,D2CPJ1_HUMAN,D2CPI9_HUMAN			YES	XPC,missense_variant,p.Tyr660Cys,ENST00000285021,NM_004628.4,NM_001145769.1;XPC,missense_variant,p.Tyr623Cys,ENST00000449060,;XPC,3_prime_UTR_variant,,ENST00000476581,;XPC,downstream_gene_variant,,ENST00000477324,;							MODERATE	1979/2823	Y660C	XPC_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000285021		CCDS46763.1			1	
RP11-111M22.2	0	LGGM	GRCh37	11	76093149	76093149	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	40	25	.	.	ENST00000321844.4:c.277A>T	p.Met93Leu	p.M93L	ENST00000321844	NM_001282456.1	93	Atg/Ttg	0	1	1	UPI0000199B30	0	NA	ENST00000321844		ENSG00000179240			65	-0.195		Clone_based_vega_gene	p.M93L		RP11-111M22.2		SNV							ENST00000321844	protein_coding	getma.org/?cm=var&var=hg19,11,76093149,A,T&fts=all		Pfam_domain:PF13551,hmmpanther:PTHR23016,hmmpanther:PTHR23016:SF2		M/L		T	neutral	781/5363		getma.org/?cm=msa&ty=f&p=YK006_HUMAN&rb=36&re=112&var=M93L	tolerated(0.36)				YES	RP11-111M22.2,missense_variant,p.Met93Leu,ENST00000321844,NM_001282456.1;RP11-111M22.2,missense_variant,p.Met93Leu,ENST00000530460,;RP11-111M22.2,missense_variant,p.Met93Leu,ENST00000529331,;PRKRIR,upstream_gene_variant,,ENST00000260045,NM_004705.2;RP11-111M22.2,non_coding_transcript_exon_variant,,ENST00000531785,;RP11-111M22.2,intron_variant,,ENST00000531207,;RP11-111M22.2,upstream_gene_variant,,ENST00000534586,;PRKRIR,upstream_gene_variant,,ENST00000528993,;							MODERATE	277/765	M93L	YK006_HUMAN			Transcript		benign(0.066)	.	ENSP00000323821					1	
CNTN6	0	LGGM	GRCh37	3	1262392	1262392	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	20	26	.	.	ENST00000446702.2:c.77C>T	p.Pro26Leu	p.P26L	ENST00000446702		26	cCt/cTt	0	1		UPI0000072430	0	getma.org/pdb.php?prot=CNTN6_HUMAN&from=26&to=118&var=P26L	ENST00000350110		ENSG00000134115	2176		46	3.655		HGNC	p.P26L		CNTN6		SNV							ENST00000350110	protein_coding	getma.org/?cm=var&var=hg19,3,1262392,C,T&fts=all		Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50835		P/L		T	high	628/3814		getma.org/?cm=msa&ty=f&p=CNTN6_HUMAN&rb=26&re=118&var=P26L	deleterious(0)	F5H752_HUMAN				CNTN6,missense_variant,p.Pro26Leu,ENST00000446702,;CNTN6,missense_variant,p.Pro26Leu,ENST00000350110,NM_014461.2;CNTN6,5_prime_UTR_variant,,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,;							MODERATE	77/3087	P26L	CNTN6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341882		CCDS2557.1			1	
FRAS1	0	LGGM	GRCh37	4	79461920	79461920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	58	26	.	.	ENST00000264895.6:c.11681C>T	p.Ala3894Val	p.A3894V	ENST00000264895	NM_025074.6	3894	gCg/gTg	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185	8.74E-05	84	-0.41		HGNC	p.A3894V	rs772941624	FRAS1	0.000306	SNV			1	0.000103			ENST00000264895	protein_coding	getma.org/?cm=var&var=hg19,4,79461920,C,T&fts=all				A/V		T	neutral	12121/12479	1.51E-05	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=3155&re=4005&var=A3889V		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Ala3894Val,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Ala2123Val,ENST00000512123,;	0.00047						MODERATE	11681/12039	A3889V	FRAS1_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000264895	9.92E-05	CCDS54771.1			1	
RFWD2	0	LGGM	GRCh37	1	176104186	176104186	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	44	27	.	.	ENST00000367669.3:c.928A>G	p.Ser310Gly	p.S310G	ENST00000367669	NM_022457.5	310	Agc/Ggc	0	1	1	UPI0000061E51	0	NA	ENST00000367669		ENSG00000143207	17440		71	1.525		HGNC	p.S149G		RFWD2		SNV							ENST00000498306	protein_coding	getma.org/?cm=var&var=hg19,1,176104186,T,C&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF365		S/G		C	low	1443/3033		getma.org/?cm=msa&ty=f&p=RFWD2_HUMAN&rb=176&re=375&var=S310G	tolerated(0.19)	B3KM72_HUMAN			YES	RFWD2,missense_variant,p.Ser310Gly,ENST00000367669,NM_022457.5;RFWD2,missense_variant,p.Ser286Gly,ENST00000308769,NM_001001740.2;RFWD2,missense_variant,p.Ser145Gly,ENST00000367666,;RFWD2,missense_variant,p.Ser12Gly,ENST00000459744,;RFWD2,missense_variant,p.Ser149Gly,ENST00000498306,;RFWD2,3_prime_UTR_variant,,ENST00000367667,NM_001286644.1;RFWD2,3_prime_UTR_variant,,ENST00000474194,;RFWD2,3_prime_UTR_variant,,ENST00000491600,;							MODERATE	928/2196	S310G	RFWD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000356641		CCDS30944.1			1	
TADA3	0	LGGM	GRCh37	3	9831497	9831497	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	31	27	.	.	ENST00000301964.2:c.358C>T	p.Arg120Trp	p.R120W	ENST00000301964	NM_006354.3	120	Cgg/Tgg	0	1	1	UPI000006F454	0	NA	ENST00000301964		ENSG00000171148	19422	8.64E-05	58	1.995		HGNC	p.R120W	rs755131993	TADA3		SNV							ENST00000301964	protein_coding	getma.org/?cm=var&var=hg19,3,9831497,G,A&fts=all		hmmpanther:PTHR13556,Low_complexity_(Seg):seg		R/W		A	medium	917/2355	1.50E-05	getma.org/?cm=msa&ty=f&p=TADA3_HUMAN&rb=1&re=200&var=R120W	deleterious(0)	C9JMS0_HUMAN			YES	TADA3,missense_variant,p.Arg120Trp,ENST00000343450,NM_133480.2;TADA3,missense_variant,p.Arg120Trp,ENST00000301964,NM_006354.3;TADA3,missense_variant,p.Arg120Trp,ENST00000440161,NM_001278270.1;ARPC4,upstream_gene_variant,,ENST00000397261,NM_005718.4;ARPC4-TTLL3,upstream_gene_variant,,ENST00000397256,NM_001198793.1;ARPC4,upstream_gene_variant,,ENST00000287613,NM_001024960.2;ARPC4,upstream_gene_variant,,ENST00000498623,NM_001024959.2;ARPC4,upstream_gene_variant,,ENST00000433034,NM_001198780.1;OGG1,downstream_gene_variant,,ENST00000426518,;TADA3,downstream_gene_variant,,ENST00000439043,;ARPC4,upstream_gene_variant,,ENST00000485273,;TADA3,non_coding_transcript_exon_variant,,ENST00000492635,;TADA3,upstream_gene_variant,,ENST00000492103,;ARPC4,upstream_gene_variant,,ENST00000417500,;ARPC4,upstream_gene_variant,,ENST00000440787,;ARPC4-TTLL3,upstream_gene_variant,,ENST00000424442,;ARPC4,upstream_gene_variant,,ENST00000467289,;ARPC4-TTLL3,upstream_gene_variant,,ENST00000418163,;ARPC4,upstream_gene_variant,,ENST00000479956,;							MODERATE	358/1299	R120W	TADA3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000307684	1.65E-05	CCDS2583.1			1	
ZNF318	0	LGGM	GRCh37	6	43323306	43323306	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	60	28	.	.	ENST00000361428.2:c.1766A>G	p.Tyr589Cys	p.Y589C	ENST00000361428	NM_014345.2	589	tAt/tGt	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578		88	0.975		HGNC	p.Y589C		ZNF318		SNV							ENST00000318149	protein_coding	getma.org/?cm=var&var=hg19,6,43323306,T,C&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		Y/C		C	low	1844/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1&re=1049&var=Y589C					YES	ZNF318,missense_variant,p.Tyr589Cys,ENST00000361428,NM_014345.2;ZNF318,missense_variant,p.Tyr589Cys,ENST00000318149,;ZNF318,missense_variant,p.Tyr589Cys,ENST00000605935,;							MODERATE	1766/6840	Y589C	ZN318_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000354964		CCDS4895.2			1	
SPG11	0	LGGM	GRCh37	15	44856809	44856809	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	53	29	.	.	ENST00000261866.7:c.7087T>G	p.Tyr2363Asp	p.Y2363D	ENST00000261866	NM_025137.3	2363	Tac/Gac	0	1	1	UPI0000456840	0	NA	ENST00000261866		ENSG00000104133	11226		82	2.28		HGNC	p.Y2250D		SPG11		SNV			1				ENST00000535302	protein_coding	getma.org/?cm=var&var=hg19,15,44856809,A,C&fts=all		hmmpanther:PTHR13650,Pfam_domain:PF14649		Y/D		C	medium	7104/7774		getma.org/?cm=msa&ty=f&p=SPTCS_HUMAN&rb=694&re=2441&var=Y2363D	deleterious(0)	H0YN96_HUMAN,C4B7M3_HUMAN			YES	SPG11,missense_variant,p.Tyr2363Asp,ENST00000261866,NM_025137.3;SPG11,missense_variant,p.Tyr2250Asp,ENST00000535302,NM_001160227.1;SPG11,missense_variant,p.Tyr487Asp,ENST00000559511,;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,downstream_gene_variant,,ENST00000558138,;EIF3J,downstream_gene_variant,,ENST00000536248,;SPG11,downstream_gene_variant,,ENST00000559347,;SPG11,non_coding_transcript_exon_variant,,ENST00000560299,;EIF3J,downstream_gene_variant,,ENST00000558353,;SPG11,downstream_gene_variant,,ENST00000561268,;							MODERATE	7087/7332	Y2363D	SPTCS_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000261866		CCDS10112.1			1	
ADAM20	0	LGGM	GRCh37	14	70990069	70990069	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	45	30	.	.	ENST00000256389.3:c.1556T>C	p.Val519Ala	p.V519A	ENST00000256389	NM_003814.4	519	gTt/gCt	0	1	1	UPI0000183495	0	getma.org/pdb.php?prot=ADA20_HUMAN&from=416&to=491&var=V469A	ENST00000256389		ENSG00000134007	199		75	0.73		HGNC	p.V519A		ADAM20		SNV							ENST00000256389	protein_coding	getma.org/?cm=var&var=hg19,14,70990069,A,G&fts=all		PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF133,Pfam_domain:PF00200,Gene3D:4.10.70.10,SMART_domains:SM00050,Superfamily_domains:SSF57552		V/A		G	neutral	1801/2795		getma.org/?cm=msa&ty=f&p=ADA20_HUMAN&rb=416&re=491&var=V469A	tolerated(0.79)				YES	ADAM20,missense_variant,p.Val519Ala,ENST00000256389,NM_003814.4;RP11-486O13.4,intron_variant,,ENST00000556646,;							MODERATE	1556/2331	V469A	ADA20_HUMAN			Transcript		benign(0.006)	.	ENSP00000256389		CCDS32111.1			1	
COASY	0	LGGM	GRCh37	17	40717304	40717304	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	74	31	.	.	ENST00000590958.1:c.1449G>C	p.Glu483Asp	p.E483D	ENST00000590958		483	gaG/gaC	0	1		UPI000006F293	0	getma.org/pdb.php?prot=COASY_HUMAN&from=359&to=535&var=E454D	ENST00000393818		ENSG00000068120	29932		105	1.32		HGNC	p.E454D		COASY		SNV			1				ENST00000420359	protein_coding	getma.org/?cm=var&var=hg19,17,40717304,G,C&fts=all		Gene3D:3.40.50.300,HAMAP:MF_00376,Pfam_domain:PF01121,PROSITE_profiles:PS51219,hmmpanther:PTHR10695,hmmpanther:PTHR10695:SF20,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00152		E/D		C	low	1818/2458		getma.org/?cm=msa&ty=f&p=COASY_HUMAN&rb=359&re=535&var=E454D	tolerated(0.07)	K7ES73_HUMAN,K7EQ60_HUMAN,K7EP09_HUMAN,K7EN91_HUMAN				COASY,missense_variant,p.Glu454Asp,ENST00000393818,NM_025233.6;COASY,missense_variant,p.Glu454Asp,ENST00000420359,NM_001042529.2,NM_001042532.3;COASY,missense_variant,p.Glu454Asp,ENST00000421097,;COASY,missense_variant,p.Glu483Asp,ENST00000590958,;COASY,missense_variant,p.Glu159Asp,ENST00000449624,;MLX,upstream_gene_variant,,ENST00000246912,NM_170607.2;MLX,upstream_gene_variant,,ENST00000435881,NM_198204.1;MLX,upstream_gene_variant,,ENST00000346833,NM_198205.1;COASY,downstream_gene_variant,,ENST00000591779,;MLX,upstream_gene_variant,,ENST00000591024,;COASY,downstream_gene_variant,,ENST00000586771,;COASY,downstream_gene_variant,,ENST00000585811,;COASY,downstream_gene_variant,,ENST00000585909,;COASY,downstream_gene_variant,,ENST00000587858,;COASY,downstream_gene_variant,,ENST00000587157,;COASY,downstream_gene_variant,,ENST00000587214,;RP11-400F19.8,downstream_gene_variant,,ENST00000585572,;COASY,downstream_gene_variant,,ENST00000588757,;COASY,non_coding_transcript_exon_variant,,ENST00000591753,;MLX,upstream_gene_variant,,ENST00000590050,;MLX,upstream_gene_variant,,ENST00000588320,;MLX,upstream_gene_variant,,ENST00000585403,;MLX,upstream_gene_variant,,ENST00000586393,;COASY,upstream_gene_variant,,ENST00000591583,;MLX,upstream_gene_variant,,ENST00000590084,;MLX,upstream_gene_variant,,ENST00000592717,;MLX,upstream_gene_variant,,ENST00000591195,;COASY,downstream_gene_variant,,ENST00000588353,;							MODERATE	1362/1695	E454D	COASY_HUMAN			Transcript		benign(0.002)	.	ENSP00000377406		CCDS11429.1			1	
PRDM2	0	LGGM	GRCh37	1	14107914	14107914	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	13	32	.	.	ENST00000235372.7:c.3624G>A	p.Gln1208=	p.Q1208=	ENST00000235372	NM_012231.4	1208	caG/caA	0	1	1	UPI000013C9CD	0		ENST00000235372		ENSG00000116731	9347		45			HGNC	p.Q1208Q		PRDM2		SNV							ENST00000235372	protein_coding			Pfam_domain:PF13894,PIRSF_domain:PIRSF002395,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,SMART_domains:SM00355		Q		A		4480/7957				S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,synonymous_variant,p.=,ENST00000235372,NM_012231.4;PRDM2,synonymous_variant,p.=,ENST00000311066,NM_015866.4;PRDM2,synonymous_variant,p.=,ENST00000413440,NM_001007257.2;PRDM2,synonymous_variant,p.=,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;							LOW	3624/5157		PRDM2_HUMAN			Transcript			.	ENSP00000235372		CCDS150.1			1	
KCND2	0	LGGM	GRCh37	7	119915010	119915010	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	99	33	.	.	ENST00000331113.4:c.324C>G	p.Arg108=	p.R108=	ENST00000331113	NM_012281.2	108	cgC/cgG	0	1	1	UPI0000073D37	0		ENST00000331113		ENSG00000184408	6238		132			HGNC	p.R108R		KCND2		SNV							ENST00000331113	protein_coding			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF86,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		R		G		1289/5331				A4D0V9_HUMAN,Q75LS7_HUMAN			YES	KCND2,synonymous_variant,p.=,ENST00000331113,NM_012281.2;							LOW	324/1893		KCND2_HUMAN			Transcript			.	ENSP00000333496		CCDS5776.1			1	
MYBL2	0	LGGM	GRCh37	20	42331155	42331155	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	71	34	.	.	ENST00000217026.4:c.977G>T	p.Ser326Ile	p.S326I	ENST00000217026	NM_002466.3	326	aGt/aTt	0	1	1	UPI000012FAE1	0	NA	ENST00000217026		ENSG00000101057	7548		105	0.805		HGNC	p.S326I		MYBL2		SNV							ENST00000217026	protein_coding	getma.org/?cm=var&var=hg19,20,42331155,G,T&fts=all		hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF37		S/I		T	low	1104/2639		getma.org/?cm=msa&ty=f&p=MYBB_HUMAN&rb=144&re=343&var=S326I	deleterious(0.01)				YES	MYBL2,missense_variant,p.Ser326Ile,ENST00000217026,NM_002466.3;MYBL2,missense_variant,p.Ser302Ile,ENST00000396863,NM_001278610.1;							MODERATE	977/2103	S326I	MYBB_HUMAN			Transcript		benign(0.022)	.	ENSP00000217026		CCDS13322.1			1	
DDX6	0	LGGM	GRCh37	11	118656911	118656911	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	73	35	.	.	ENST00000264018.4:c.50A>C	p.Gln17Pro	p.Q17P	ENST00000264018	NM_004397.4	17	cAa/cCa	0	1		UPI000013D4A2	0	NA	ENST00000526070		ENSG00000110367	2747		108	1.32		HGNC	p.Q17P		DDX6		SNV							ENST00000264018	protein_coding	getma.org/?cm=var&var=hg19,11,118656911,T,G&fts=all		hmmpanther:PTHR24031:SF214,hmmpanther:PTHR24031		Q/P		G	low	411/1936		getma.org/?cm=msa&ty=f&p=DDX6_HUMAN&rb=1&re=119&var=Q17P	tolerated_low_confidence(0.05)	B2R858_HUMAN				DDX6,missense_variant,p.Gln17Pro,ENST00000264018,NM_004397.4;DDX6,missense_variant,p.Gln17Pro,ENST00000534980,;DDX6,missense_variant,p.Gln17Pro,ENST00000526070,NM_001257191.1;DDX6,non_coding_transcript_exon_variant,,ENST00000531971,;DDX6,non_coding_transcript_exon_variant,,ENST00000525082,;DDX6,non_coding_transcript_exon_variant,,ENST00000533239,;							MODERATE	50/1452	Q17P	DDX6_HUMAN			Transcript		benign(0.143)	.	ENSP00000433704		CCDS44751.1			1	
DBF4	0	LGGM	GRCh37	7	87507379	87507379	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	146	35	.	.	ENST00000265728.1:c.58G>A	p.Val20Ile	p.V20I	ENST00000265728	NM_006716.3	20	Gtc/Atc	0	1	1	UPI000000DC33	0	NA	ENST00000265728		ENSG00000006634	17364		181	-0.69		HGNC	p.V20I		DBF4		SNV							ENST00000431138	protein_coding	getma.org/?cm=var&var=hg19,7,87507379,G,A&fts=all		hmmpanther:PTHR15375,hmmpanther:PTHR15375:SF21		V/I		A	neutral	562/3907		getma.org/?cm=msa&ty=f&p=DBF4A_HUMAN&rb=1&re=200&var=V20I	tolerated(0.72)	B7Z8C6_HUMAN,B3KMY2_HUMAN			YES	DBF4,missense_variant,p.Val20Ile,ENST00000265728,NM_006716.3;SLC25A40,upstream_gene_variant,,ENST00000341119,NM_018843.3;DBF4,missense_variant,p.Val20Ile,ENST00000413643,;DBF4,missense_variant,p.Val20Ile,ENST00000431138,;DBF4,missense_variant,p.Val20Ile,ENST00000430279,;DBF4,non_coding_transcript_exon_variant,,ENST00000495067,;DBF4,non_coding_transcript_exon_variant,,ENST00000486925,;SLC25A40,upstream_gene_variant,,ENST00000444363,;SLC25A40,upstream_gene_variant,,ENST00000491499,;							MODERATE	58/2025	V20I	DBF4A_HUMAN			Transcript		benign(0.005)	.	ENSP00000265728		CCDS5611.1			1	
POLR2B	0	LGGM	GRCh37	4	57876957	57876957	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	47	37	.	.	ENST00000381227.1:c.1592A>G	p.Tyr531Cys	p.Y531C	ENST00000381227		531	tAt/tGt	0	1		UPI00001345D1	0	getma.org/pdb.php?prot=RPB2_HUMAN&from=468&to=533&var=Y531C	ENST00000314595		ENSG00000047315	9188		84	1.535		HGNC	p.Y531C		POLR2B		SNV							ENST00000314595	protein_coding	getma.org/?cm=var&var=hg19,4,57876957,A,G&fts=all		Superfamily_domains:SSF64484,Pfam_domain:PF04565,Gene3D:2a6hC02,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF7		Y/C		G	low	1635/3748		getma.org/?cm=msa&ty=f&p=RPB2_HUMAN&rb=468&re=533&var=Y531C	tolerated(0.14)	C9JMN3_HUMAN,C9J2Y9_HUMAN,B2WTN6_HUMAN				POLR2B,missense_variant,p.Tyr531Cys,ENST00000381227,;POLR2B,missense_variant,p.Tyr524Cys,ENST00000441246,;POLR2B,missense_variant,p.Tyr531Cys,ENST00000314595,NM_000938.1;POLR2B,missense_variant,p.Tyr456Cys,ENST00000431623,;POLR2B,non_coding_transcript_exon_variant,,ENST00000510355,;POLR2B,non_coding_transcript_exon_variant,,ENST00000478188,;							MODERATE	1592/3525	Y531C	RPB2_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000312735		CCDS3511.1			1	
TFRC	0	LGGM	GRCh37	3	195785450	195785450	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	54	39	.	.	ENST00000360110.4:c.1590C>G	p.Ser530Arg	p.S530R	ENST00000360110	NM_001128148.1	530	agC/agG	0	1	1	UPI0000049ADE	0	getma.org/pdb.php?prot=TFR1_HUMAN&from=400&to=579&var=S530R	ENST00000360110		ENSG00000072274	11763		93	1.465		HGNC	p.S449R		TFRC		SNV							ENST00000420415	protein_coding	getma.org/?cm=var&var=hg19,3,195785450,G,C&fts=all		Gene3D:3.40.630.10,Pfam_domain:PF04389,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF26,Superfamily_domains:SSF53187		S/R		C	low	1760/5111		getma.org/?cm=msa&ty=f&p=TFR1_HUMAN&rb=400&re=579&var=S530R	tolerated(0.19)	G3V0E5_HUMAN,F5H6B1_HUMAN			YES	TFRC,missense_variant,p.Ser530Arg,ENST00000360110,NM_001128148.1;TFRC,missense_variant,p.Ser530Arg,ENST00000392396,NM_003234.2;TFRC,missense_variant,p.Ser449Arg,ENST00000420415,;TFRC,missense_variant,p.Ser248Arg,ENST00000535031,;TFRC,3_prime_UTR_variant,,ENST00000540528,;TFRC,upstream_gene_variant,,ENST00000426789,;TFRC,non_coding_transcript_exon_variant,,ENST00000465288,;TFRC,non_coding_transcript_exon_variant,,ENST00000463356,;TFRC,non_coding_transcript_exon_variant,,ENST00000475593,;TFRC,non_coding_transcript_exon_variant,,ENST00000483983,;TFRC,non_coding_transcript_exon_variant,,ENST00000477148,;TFRC,non_coding_transcript_exon_variant,,ENST00000482479,;TFRC,downstream_gene_variant,,ENST00000464368,;TFRC,upstream_gene_variant,,ENST00000463047,;							MODERATE	1590/2283	S530R	TFR1_HUMAN			Transcript		benign(0.378)	.	ENSP00000353224		CCDS3312.1			1	
VPS8	0	LGGM	GRCh37	3	184717498	184717498	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	89	41	.	.	ENST00000437079.3:c.3851A>G	p.Tyr1284Cys	p.Y1284C	ENST00000437079	NM_001009921.2	1284	tAt/tGt	0	1	1	UPI0000160BDC	0	NA	ENST00000437079		ENSG00000156931	29122		130	1.935		HGNC	p.Y1282C		VPS8		SNV							ENST00000436792	protein_coding	getma.org/?cm=var&var=hg19,3,184717498,A,G&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850		Y/C		G	medium	4022/5047		getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=1197&re=1396&var=Y1284C	deleterious(0)	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN			YES	VPS8,missense_variant,p.Tyr1284Cys,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Tyr1284Cys,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Tyr1282Cys,ENST00000436792,;VPS8,missense_variant,p.Tyr1192Cys,ENST00000446204,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;VPS8,downstream_gene_variant,,ENST00000488255,;							MODERATE	3851/4287	Y1284C	VPS8_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000397879		CCDS46971.1			1	
TOPBP1	0	LGGM	GRCh37	3	133356970	133356970	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	71	44	.	.	ENST00000260810.5:c.2270A>G	p.Asn757Ser	p.N757S	ENST00000260810	NM_007027.3	757	aAt/aGt	0	1	1	UPI000020A292	0	NA	ENST00000260810		ENSG00000163781	17008		115	-0.205		HGNC	p.N757S		TOPBP1		SNV							ENST00000260810	protein_coding	getma.org/?cm=var&var=hg19,3,133356970,T,C&fts=all		hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561		N/S		C	neutral	2402/5378		getma.org/?cm=msa&ty=f&p=TOPB1_HUMAN&rb=726&re=899&var=N757S	tolerated(0.77)	A0AV47_HUMAN			YES	TOPBP1,missense_variant,p.Asn757Ser,ENST00000260810,NM_007027.3;							MODERATE	2270/4569	N757S	TOPB1_HUMAN			Transcript		benign(0.001)	.	ENSP00000260810		CCDS46919.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125192065	125192065	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	39	46	.	.	ENST00000431078.1:c.534A>G	p.Ser178=	p.S178=	ENST00000431078	NM_130773.3	178	tcA/tcG	0	1	1	UPI0000071988	0		ENST00000431078		ENSG00000155052	18748		85			HGNC	p.S178S		CNTNAP5		SNV							ENST00000431078	protein_coding			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,Superfamily_domains:SSF49899		S		G		898/5284							YES	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;							LOW	534/3921		CNTP5_HUMAN			Transcript			.	ENSP00000399013		CCDS46401.1			1	
ATMIN	0	LGGM	GRCh37	16	81075014	81075014	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	95	47	.	.	ENST00000299575.4:c.390C>G	p.Phe130Leu	p.F130L	ENST00000299575	NM_015251.2	130	ttC/ttG	0	1	1	UPI00001B2485	0	NA	ENST00000299575		ENSG00000166454	29034		142	0.55		HGNC	p.F130L		ATMIN		SNV							ENST00000299575	protein_coding	getma.org/?cm=var&var=hg19,16,81075014,C,G&fts=all		hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF10		F/L		G	neutral	414/4884		getma.org/?cm=msa&ty=f&p=ATMIN_HUMAN&rb=1&re=130&var=F130L	tolerated(0.91)	J3QRX7_HUMAN,D3DUL0_HUMAN			YES	ATMIN,missense_variant,p.Phe130Leu,ENST00000299575,NM_015251.2;ATMIN,5_prime_UTR_variant,,ENST00000566488,;ATMIN,5_prime_UTR_variant,,ENST00000564241,;ATMIN,5_prime_UTR_variant,,ENST00000565237,;ATMIN,non_coding_transcript_exon_variant,,ENST00000539819,;ATMIN,non_coding_transcript_exon_variant,,ENST00000562969,;							MODERATE	390/2472	F130L	ATMIN_HUMAN			Transcript		benign(0.003)	.	ENSP00000299575		CCDS32494.1			1	
UNC93A	0	LGGM	GRCh37	6	167719404	167719404	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	82	50	.	.	ENST00000230256.3:c.842C>T	p.Ser281Phe	p.S281F	ENST00000230256	NM_018974.3	281	tCc/tTc	0	1	1	UPI0000062351	0	NA	ENST00000230256		ENSG00000112494	12570		132	2.72		HGNC	p.S239F		UNC93A		SNV							ENST00000366829	protein_coding	getma.org/?cm=var&var=hg19,6,167719404,C,T&fts=all		hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		S/F		T	medium	1017/2116		getma.org/?cm=msa&ty=f&p=UN93A_HUMAN&rb=169&re=368&var=S281F	deleterious(0.03)	D6RFH7_HUMAN			YES	UNC93A,missense_variant,p.Ser281Phe,ENST00000230256,NM_018974.3;UNC93A,missense_variant,p.Ser239Phe,ENST00000366829,NM_001143947.1;							MODERATE	842/1374	S281F	UN93A_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000230256		CCDS5300.1			1	
KDM5A	0	LGGM	GRCh37	12	475115	475115	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	76	57	.	.	ENST00000399788.2:c.522T>C	p.Ser174=	p.S174=	ENST00000399788	NM_001042603.1	174	tcT/tcC	0	1	1	UPI0000DB2E73	0		ENST00000399788		ENSG00000073614	9886		133			HGNC	p.S174S		KDM5A		SNV							ENST00000382815	protein_coding			PROSITE_profiles:PS51011,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Gene3D:1.10.150.60,SMART_domains:SM00501,Superfamily_domains:SSF46774		S		G		885/10763							YES	KDM5A,synonymous_variant,p.=,ENST00000399788,NM_001042603.1;KDM5A,synonymous_variant,p.=,ENST00000382815,;KDM5A,intron_variant,,ENST00000544760,;KDM5A,downstream_gene_variant,,ENST00000536014,;KDM5A,downstream_gene_variant,,ENST00000535014,;							LOW	522/5073		KDM5A_HUMAN			Transcript			.	ENSP00000382688		CCDS41736.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110520451	110520451	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	185	60	.	.	ENST00000378402.5:c.11353C>T	p.Pro3785Ser	p.P3785S	ENST00000378402	NM_177531.4	3785	Cca/Tca	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		245	2.705		HGNC	p.P3785S		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110520451,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		P/S		T	medium	11457/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=3755&re=3954&var=P3785S	deleterious(0)				YES	PKHD1L1,missense_variant,p.Pro3785Ser,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Pro713Ser,ENST00000526472,;							MODERATE	11353/12732	P3785S	PKHL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367655		CCDS47911.1			1	
CNTN5	0	LGGM	GRCh37	11	99715932	99715932	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080025	H080025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	100	64	.	.	ENST00000524871.1:c.515A>G	p.Gln172Arg	p.Q172R	ENST00000524871	NM_014361.3	172	cAg/cGg	0	1	1	UPI000006DAB0	0	getma.org/pdb.php?prot=CNTN5_HUMAN&from=99&to=191&var=Q172R	ENST00000524871		ENSG00000149972	2175	0.000432	164	1.475		HGNC	p.Q172R	rs757656509	CNTN5		SNV							ENST00000524871	protein_coding	getma.org/?cm=var&var=hg19,11,99715932,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/R		G	low	805/6258		getma.org/?cm=msa&ty=f&p=CNTN5_HUMAN&rb=99&re=191&var=Q172R	deleterious(0.01)	B4DGP0_HUMAN			YES	CNTN5,missense_variant,p.Gln172Arg,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Gln172Arg,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Gln172Arg,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Gln98Arg,ENST00000418526,NM_175566.2;CNTN5,missense_variant,p.Gln172Arg,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;							MODERATE	515/3303	Q172R	CNTN5_HUMAN			Transcript		probably_damaging(0.998)	common_variant	ENSP00000435637	4.14E-05	CCDS53696.1			1	
TMTC4	0	LGGM	GRCh37	13	101287177	101287177	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	32	67	.	.	ENST00000342624.5:c.1388C>G	p.Ala463Gly	p.A463G	ENST00000342624	NM_032813.2	463	gCt/gGt	0	1		UPI00005A9257	0	NA	ENST00000376234		ENSG00000125247	25904		99	1.625		HGNC	p.A444G		TMTC4		SNV							ENST00000376234	protein_coding	getma.org/?cm=var&var=hg19,13,101287177,G,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF374		A/G		C	low	1521/3483		getma.org/?cm=msa&ty=f&p=TMTC4_HUMAN&rb=370&re=479&var=A444G	tolerated(0.14)					TMTC4,missense_variant,p.Ala463Gly,ENST00000342624,NM_032813.2;TMTC4,missense_variant,p.Ala444Gly,ENST00000376234,NM_001079669.1;TMTC4,missense_variant,p.Ala333Gly,ENST00000328767,NM_001286453.1;TMTC4,non_coding_transcript_exon_variant,,ENST00000462211,;TMTC4,non_coding_transcript_exon_variant,,ENST00000478272,;TMTC4,downstream_gene_variant,,ENST00000496511,;TMTC4,non_coding_transcript_exon_variant,,ENST00000489713,;							MODERATE	1331/2226	A444G	TMTC4_HUMAN			Transcript		benign(0)	.	ENSP00000365408		CCDS41904.1			1	
HYCC1	0	LGGM	GRCh37	7	22999933	22999933	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080025	H080025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	76	73	.	.	ENST00000432176.2:c.933A>C	p.Arg311=	p.R311=	ENST00000432176	NM_032581.3	311	cgA/cgC	0	1	1	UPI000006FF45	0		ENST00000432176		ENSG00000122591	24587		149			HGNC	p.R311R		FAM126A		SNV			1				ENST00000432176	protein_coding			hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF4,Pfam_domain:PF09790		R		G		1166/6129							YES	FAM126A,synonymous_variant,p.=,ENST00000440481,;FAM126A,synonymous_variant,p.=,ENST00000432176,NM_032581.3;FAM126A,synonymous_variant,p.=,ENST00000409923,;FAM126A,non_coding_transcript_exon_variant,,ENST00000498833,;							LOW	933/1566		HYCCI_HUMAN			Transcript			.	ENSP00000403396		CCDS5377.1			1	
PCLO	0	LGGM	GRCh37	7	82585621	82585621	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080025	H080025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	243	80	.	.	ENST00000333891.9:c.4648G>A	p.Gly1550Arg	p.G1550R	ENST00000333891	NM_033026.5	1550	Ggg/Agg	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		323	1.995		HGNC	p.G1550R		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82585621,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		G/R		T	medium	4986/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1455&re=1646&var=G1481R					YES	PCLO,missense_variant,p.Gly1550Arg,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Gly1550Arg,ENST00000423517,NM_014510.2;							MODERATE	4648/15429	G1481R	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
CD1B	0	LGGM	GRCh37	1	158300638	158300638	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	245	142	.	.	ENST00000368168.3:c.276C>T	p.Ile92=	p.I92=	ENST00000368168	NM_001764.2	92	atC/atT	0	1	1	UPI0000127333	0		ENST00000368168		ENSG00000158485	1635		387			HGNC	p.I92I		CD1B		SNV							ENST00000368168	protein_coding			Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF130,Superfamily_domains:SSF54452		I		A		384/1395				Q9UN97_HUMAN,B4E0D3_HUMAN			YES	CD1B,synonymous_variant,p.=,ENST00000368168,NM_001764.2;CD1B,synonymous_variant,p.=,ENST00000451207,;							LOW	276/1002		CD1B_HUMAN			Transcript			.	ENSP00000357150		CCDS1176.1			1	
CEP350	0	LGGM	GRCh37	1	179989339	179989339	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080025	H080025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080025N.bam, H080025T.bam	Illumina HiSeq	231	142	.	.	ENST00000367607.3:c.2430G>T	p.Leu810Phe	p.L810F	ENST00000367607	NM_014810.4	810	ttG/ttT	0	1	1	UPI000013CFC5	0	NA	ENST00000367607		ENSG00000135837	24238		373	0.975		HGNC	p.L810F		CEP350		SNV							ENST00000367607	protein_coding	getma.org/?cm=var&var=hg19,1,179989339,G,T&fts=all		hmmpanther:PTHR13958		L/F		T	low	2848/13491		getma.org/?cm=msa&ty=f&p=CE350_HUMAN&rb=601&re=1278&var=L810F		Q5T2X4_HUMAN			YES	CEP350,missense_variant,p.Leu810Phe,ENST00000367607,NM_014810.4;							MODERATE	2430/9354	L810F	CE350_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000356579		CCDS1336.1			1	
ITPRIPL2	0	LGGM	GRCh37	16	19126006	19126006	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	2	2	.	.	ENST00000381440.3:c.223C>A	p.Leu75Met	p.L75M	ENST00000381440	NM_001034841.3	75	Ctg/Atg	0	1	1	UPI000023760C	0	NA	ENST00000381440		ENSG00000205730	27257		4	0.55		HGNC	p.L75M		ITPRIPL2		SNV							ENST00000381440	protein_coding	getma.org/?cm=var&var=hg19,16,19126006,C,A&fts=all		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF9		L/M		A	neutral	753/7693		getma.org/?cm=msa&ty=f&p=IPIL2_HUMAN&rb=1&re=200&var=L75M	deleterious(0.03)				YES	ITPRIPL2,missense_variant,p.Leu75Met,ENST00000381440,NM_001034841.3;ITPRIPL2,synonymous_variant,p.=,ENST00000566735,;CTD-2349B8.1,missense_variant,p.Leu38Met,ENST00000568526,;CTD-2349B8.1,synonymous_variant,p.=,ENST00000564808,;							MODERATE	223/1608	L75M	IPIL2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000370849		CCDS32395.1			1	
MVK	0	LGGM	GRCh37	12	110012659	110012659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	7	2	.	.	ENST00000228510.3:c.32C>A	p.Pro11Gln	p.P11Q	ENST00000228510	NM_001114185.1	11	cCg/cAg	0	1	1	UPI000012DE5B	0	getma.org/pdb.php?prot=KIME_HUMAN&from=1&to=129&var=P11Q	ENST00000228510		ENSG00000110921	7530		9	3.82		HGNC	p.P11Q		MVK		SNV			1				ENST00000545774	protein_coding	getma.org/?cm=var&var=hg19,12,110012659,C,A&fts=all		Gene3D:3.30.230.10,Prints_domain:PR00959,hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR00549		P/Q		A	high	108/1952		getma.org/?cm=msa&ty=f&p=KIME_HUMAN&rb=1&re=129&var=P11Q	deleterious(0)	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN			YES	MVK,missense_variant,p.Pro11Gln,ENST00000228510,NM_001114185.1,NM_000431.2;MVK,missense_variant,p.Pro11Gln,ENST00000392727,;MVK,missense_variant,p.Pro11Gln,ENST00000539575,;MVK,missense_variant,p.Pro11Gln,ENST00000546277,;MVK,missense_variant,p.Pro11Gln,ENST00000539335,;MVK,5_prime_UTR_variant,,ENST00000541384,;MVK,intron_variant,,ENST00000539696,;MMAB,upstream_gene_variant,,ENST00000545712,NM_052845.3;MMAB,upstream_gene_variant,,ENST00000266839,;MMAB,upstream_gene_variant,,ENST00000540016,;MVK,non_coding_transcript_exon_variant,,ENST00000535044,;MVK,missense_variant,p.Pro11Gln,ENST00000447878,;MVK,missense_variant,p.Pro11Gln,ENST00000537237,;MVK,missense_variant,p.Pro11Gln,ENST00000545774,;MMAB,upstream_gene_variant,,ENST00000541763,;MMAB,upstream_gene_variant,,ENST00000537496,;MMAB,upstream_gene_variant,,ENST00000544051,;MMAB,upstream_gene_variant,,ENST00000537236,;MMAB,upstream_gene_variant,,ENST00000536760,;MMAB,upstream_gene_variant,,ENST00000420167,;MMAB,upstream_gene_variant,,ENST00000503497,;MMAB,upstream_gene_variant,,ENST00000542390,;							MODERATE	32/1191	P11Q	KIME_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000228510		CCDS9132.1			1	
TMPRSS9	0	LGGM	GRCh37	19	2413979	2413979	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	5	2	.	.	ENST00000332578.3:c.1434C>A	p.Thr478=	p.T478=	ENST00000332578	NM_182973.1	478	acC/acA	0	1	1	UPI00001B4EC6	0		ENST00000332578		ENSG00000178297	30079		7			HGNC	p.T478T		TMPRSS9		SNV							ENST00000332578	protein_coding			hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF108,PIRSF_domain:PIRSF037931		T		A		1434/3331							YES	TMPRSS9,synonymous_variant,p.=,ENST00000332578,NM_182973.1;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;TMPRSS9,upstream_gene_variant,,ENST00000587863,;							LOW	1434/3180		TMPS9_HUMAN			Transcript			.	ENSP00000330264		CCDS12088.1			1	
PES1	0	LGGM	GRCh37	22	30984146	30984146	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	14	2	.	.	ENST00000354694.7:c.120G>C	p.Leu40=	p.L40=	ENST00000354694	NM_014303.3	40	ctG/ctC	0	1	1	UPI0000001618	0		ENST00000354694		ENSG00000100029	8848		16			HGNC	p.L40L		PES1		SNV							ENST00000354694	protein_coding			HAMAP:MF_03028,hmmpanther:PTHR12221,Pfam_domain:PF06732		L		G		227/2295				B3KXD6_HUMAN,B2RDF2_HUMAN			YES	PES1,synonymous_variant,p.=,ENST00000354694,NM_014303.3,NM_001243225.1;PES1,synonymous_variant,p.=,ENST00000402284,;PES1,synonymous_variant,p.=,ENST00000335214,;PES1,5_prime_UTR_variant,,ENST00000402281,NM_001282327.1;PES1,5_prime_UTR_variant,,ENST00000405677,NM_001282328.1;PES1,non_coding_transcript_exon_variant,,ENST00000433575,;PES1,3_prime_UTR_variant,,ENST00000406208,;PES1,non_coding_transcript_exon_variant,,ENST00000466614,;PES1,upstream_gene_variant,,ENST00000477762,;							LOW	120/1767		PESC_HUMAN			Transcript			.	ENSP00000346725		CCDS13880.1			1	
HIRA	0	LGGM	GRCh37	22	19341523	19341523	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	4	2	.	.	ENST00000263208.5:c.2680del	p.Ser894ProfsTer26	p.S894Pfs*26	ENST00000263208	NM_003325.3	894	Tcc/cc	0	1	1	UPI0000074373	0		ENST00000263208		ENSG00000100084	4916		6			HGNC	p.S687fs		HIRA		deletion			1				ENST00000340170	protein_coding			Pfam_domain:PF07569,hmmpanther:PTHR13831,hmmpanther:PTHR13831:SF0		S/X		-		2937/4053				F5H4M2_HUMAN			YES	HIRA,frameshift_variant,p.Ser894ProfsTer26,ENST00000263208,NM_003325.3;HIRA,frameshift_variant,p.Ser850ProfsTer26,ENST00000541063,;HIRA,frameshift_variant,p.Ser687ProfsTer26,ENST00000340170,;HIRA,3_prime_UTR_variant,,ENST00000546308,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;							HIGH	2680/3054		HIRA_HUMAN			Transcript			.	ENSP00000263208		CCDS13759.1			1	
RAD54L	0	LGGM	GRCh37	1	46739341	46739341	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	3	2	.	.	ENST00000371975.4:c.1532G>T	p.Arg511Leu	p.R511L	ENST00000371975	NM_003579.3	511	cGt/cTt	0	1	1	UPI0000378007	0	getma.org/pdb.php?prot=RAD54_HUMAN&from=500&to=653&var=R511L	ENST00000371975		ENSG00000085999	9826		5	0.465		HGNC	p.R511L		RAD54L		SNV							ENST00000442598	protein_coding	getma.org/?cm=var&var=hg19,1,46739341,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF208,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		R/L		T	neutral	2206/3108		getma.org/?cm=msa&ty=f&p=RAD54_HUMAN&rb=500&re=653&var=R511L	tolerated(0.18)				YES	RAD54L,missense_variant,p.Arg511Leu,ENST00000371975,NM_003579.3;RAD54L,missense_variant,p.Arg511Leu,ENST00000442598,NM_001142548.1;RAD54L,missense_variant,p.Arg85Leu,ENST00000488942,;LRRC41,downstream_gene_variant,,ENST00000343304,NM_006369.4;RAD54L,non_coding_transcript_exon_variant,,ENST00000476687,;LRRC41,intron_variant,,ENST00000496156,;RAD54L,intron_variant,,ENST00000459678,;LRRC41,downstream_gene_variant,,ENST00000472710,;RAD54L,downstream_gene_variant,,ENST00000473251,;							MODERATE	1532/2244	R511L	RAD54_HUMAN			Transcript		benign(0.013)	.	ENSP00000361043		CCDS532.1			1	
PTPRF	0	LGGM	GRCh37	1	44064570	44064570	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	9	2	.	.	ENST00000359947.4:c.2299C>G	p.Leu767Val	p.L767V	ENST00000359947	NM_002840.3	767	Cta/Gta	0	1	1	UPI0000470154	0	getma.org/pdb.php?prot=PTPRF_HUMAN&from=710&to=809&var=L767V	ENST00000359947		ENSG00000142949	9670		11	2.18		HGNC	p.L124V		PTPRF		SNV			1				ENST00000422171	protein_coding	getma.org/?cm=var&var=hg19,1,44064570,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF203,SMART_domains:SM00060,Superfamily_domains:SSF49265		L/V		G	medium	2639/7727		getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=710&re=809&var=L767V	tolerated(0.09)	G1UI20_HUMAN			YES	PTPRF,missense_variant,p.Leu767Val,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Leu767Val,ENST00000372414,;PTPRF,missense_variant,p.Leu767Val,ENST00000372413,;PTPRF,missense_variant,p.Leu767Val,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Leu424Val,ENST00000429895,;PTPRF,missense_variant,p.Leu190Val,ENST00000414879,;PTPRF,missense_variant,p.Leu124Val,ENST00000422171,;PTPRF,missense_variant,p.Leu21Val,ENST00000372407,;PTPRF,missense_variant,p.Leu333Val,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;							MODERATE	2299/5724	L767V	PTPRF_HUMAN			Transcript		benign(0.047)	.	ENSP00000353030		CCDS489.2			1	
ZNF335	0	LGGM	GRCh37	20	44589504	44589504	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	11	2	.	.	ENST00000322927.2:c.1664C>G	p.Pro555Arg	p.P555R	ENST00000322927	NM_022095.3	555	cCg/cGg	0	1	1	UPI0000001BC3	0	NA	ENST00000322927		ENSG00000198026	15807		13	0.345		HGNC	p.P400R		ZNF335		SNV			1				ENST00000426788	protein_coding	getma.org/?cm=var&var=hg19,20,44589504,G,C&fts=all		hmmpanther:PTHR24403:SF31,hmmpanther:PTHR24403		P/R		C	neutral	1765/4430		getma.org/?cm=msa&ty=f&p=ZN335_HUMAN&rb=535&re=575&var=P555R	tolerated(0.13)				YES	ZNF335,missense_variant,p.Pro555Arg,ENST00000322927,NM_022095.3;ZNF335,missense_variant,p.Pro400Arg,ENST00000426788,;ZNF335,downstream_gene_variant,,ENST00000475002,;ZNF335,downstream_gene_variant,,ENST00000476822,;							MODERATE	1664/4029	P555R	ZN335_HUMAN			Transcript		benign(0.099)	.	ENSP00000325326		CCDS13389.1			1	
EGLN3	0	LGGM	GRCh37	14	34395129	34395129	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	36	3	.	.	ENST00000250457.3:c.689-1G>T		p.X230_splice	ENST00000250457	NM_022073.3			0	1	1	UPI000004F8A8	0		ENST00000250457		ENSG00000129521	14661		39			HGNC	-		EGLN3		SNV							ENST00000250457	protein_coding							A		-/2709				Q3T1B0_HUMAN,A6XP73_HUMAN			YES	EGLN3,splice_acceptor_variant,,ENST00000250457,NM_022073.3;EGLN3,splice_acceptor_variant,,ENST00000553215,;EGLN3,downstream_gene_variant,,ENST00000487915,;EGLN3,splice_acceptor_variant,,ENST00000556785,;							HIGH	689/720		EGLN3_HUMAN			Transcript			.	ENSP00000250457		CCDS9646.1			1	
PDP1	0	LGGM	GRCh37	8	94934793	94934793	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	30	3	.	.	ENST00000396200.3:c.581C>A	p.Pro194His	p.P194H	ENST00000396200	NM_001161779.1	194	cCc/cAc	0	1		UPI000004224D	0	getma.org/pdb.php?prot=PDP1_HUMAN&from=1&to=190&var=P169H	ENST00000297598		ENSG00000164951	9279		33	1.775		HGNC	p.P169H		PDP1		SNV			1				ENST00000517764	protein_coding	getma.org/?cm=var&var=hg19,8,94934793,C,A&fts=all		hmmpanther:PTHR13832:SF213,hmmpanther:PTHR13832,SMART_domains:SM00332		P/H		A	low	775/4272		getma.org/?cm=msa&ty=f&p=PDP1_HUMAN&rb=1&re=190&var=P169H	deleterious(0)	E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B3KPZ7_HUMAN				PDP1,missense_variant,p.Pro194His,ENST00000396200,NM_001161779.1;PDP1,missense_variant,p.Pro169His,ENST00000297598,NM_018444.3,NM_001161781.1;PDP1,missense_variant,p.Pro169His,ENST00000520728,NM_001161780.1;PDP1,missense_variant,p.Pro169His,ENST00000517764,;PDP1,missense_variant,p.Pro169His,ENST00000518827,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000523021,;							MODERATE	506/1614	P169H	PDP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297598		CCDS6259.1			1	
SYNPO2	0	LGGM	GRCh37	4	119951384	119951384	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	13	3	.	.	ENST00000307142.4:c.1454C>A	p.Pro485Gln	p.P485Q	ENST00000307142	NM_133477.2	485	cCa/cAa	0	1		UPI000015FD15	0	NA	ENST00000429713		ENSG00000172403	17732		16	1.935		HGNC	p.P485Q		SYNPO2		SNV							ENST00000429713	protein_coding	getma.org/?cm=var&var=hg19,4,119951384,C,A&fts=all		hmmpanther:PTHR24217,hmmpanther:PTHR24217:SF9		P/Q		A	medium	1636/7242		getma.org/?cm=msa&ty=f&p=SYNP2_HUMAN&rb=286&re=485&var=P485Q	deleterious(0)	B4DLE4_HUMAN				SYNPO2,missense_variant,p.Pro485Gln,ENST00000307142,NM_133477.2,NM_001286754.1;SYNPO2,missense_variant,p.Pro485Gln,ENST00000429713,NM_001128933.1;SYNPO2,missense_variant,p.Pro437Gln,ENST00000504178,;SYNPO2,missense_variant,p.Pro485Gln,ENST00000434046,NM_001128934.2;SYNPO2,intron_variant,,ENST00000448416,;							MODERATE	1454/3282	P485Q	SYNP2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000395143		CCDS47129.1			1	
SUPT16H	0	LGGM	GRCh37	14	21840040	21840040	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	43	3	.	.	ENST00000216297.2:c.323G>T	p.Arg108Leu	p.R108L	ENST00000216297	NM_007192.3	108	cGa/cTa	0	1	1	UPI0000035D5C	0	getma.org/pdb.php?prot=SP16H_HUMAN&from=1&to=180&var=R108L	ENST00000216297		ENSG00000092201	11465		46	3.215		HGNC	p.R108L		SUPT16H		SNV							ENST00000216297	protein_coding	getma.org/?cm=var&var=hg19,14,21840040,C,A&fts=all		hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980,Pfam_domain:PF14826,Gene3D:3.40.350.10		R/L		A	medium	662/4684		getma.org/?cm=msa&ty=f&p=SP16H_HUMAN&rb=1&re=180&var=R108L	deleterious(0)				YES	SUPT16H,missense_variant,p.Arg108Leu,ENST00000216297,NM_007192.3;SUPT16H,3_prime_UTR_variant,,ENST00000557652,;SUPT16H,3_prime_UTR_variant,,ENST00000556309,;SUPT16H,non_coding_transcript_exon_variant,,ENST00000556217,;SUPT16H,downstream_gene_variant,,ENST00000555752,;							MODERATE	323/3144	R108L	SP16H_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000216297		CCDS9569.1			1	
CTC1	0	LGGM	GRCh37	17	8138465	8138465	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	14	3	.	.	ENST00000315684.8:c.1345G>T	p.Gly449Trp	p.G449W	ENST00000315684	NM_025099.5	449	Ggg/Tgg	0	1	1	UPI000041A9A9	0	NA	ENST00000315684		ENSG00000178971	26169		17	1.79		HGNC	p.G414W		CTC1		SNV			1				ENST00000449476	protein_coding	getma.org/?cm=var&var=hg19,17,8138465,C,A&fts=all		hmmpanther:PTHR14865,Pfam_domain:PF15489		G/W		A	low	1353/4024		getma.org/?cm=msa&ty=f&p=CTC1_HUMAN&rb=12&re=1215&var=G449W	deleterious(0)				YES	CTC1,missense_variant,p.Gly449Trp,ENST00000315684,NM_025099.5;CTC1,upstream_gene_variant,,ENST00000580299,;CTC1,downstream_gene_variant,,ENST00000581671,;CTC1,missense_variant,p.Gly414Trp,ENST00000449476,;CTC1,non_coding_transcript_exon_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000578240,;CTC1,upstream_gene_variant,,ENST00000578537,;CTC1,upstream_gene_variant,,ENST00000578441,;CTC1,upstream_gene_variant,,ENST00000584439,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000584842,;CTC1,upstream_gene_variant,,ENST00000583254,;							MODERATE	1345/3654	G449W	CTC1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000313759		CCDS42259.1			1	
PTX4	0	LGGM	GRCh37	16	1537368	1537368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	13	3	.	.	ENST00000293922.1:c.730G>T	p.Ala244Ser	p.A244S	ENST00000293922	NM_001013658.1	244	Gcc/Tcc	0	1		UPI000041A984	0	NA	ENST00000447419		ENSG00000251692	14171		16	0		HGNC	p.A244S		PTX4		SNV							ENST00000293922	protein_coding	getma.org/?cm=var&var=hg19,16,1537368,C,A&fts=all		hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF34		A/S		A	neutral	771/1516		getma.org/?cm=msa&ty=f&p=PTX4_HUMAN&rb=240&re=270&var=A249S	tolerated(0.21)					PTX4,missense_variant,p.Ala249Ser,ENST00000447419,;PTX4,missense_variant,p.Ala244Ser,ENST00000293922,NM_001013658.1;PTX4,intron_variant,,ENST00000440447,;							MODERATE	745/1437	A249S	PTX4_HUMAN			Transcript		benign(0.057)	.	ENSP00000445277					1	
CHRNB4	0	LGGM	GRCh37	15	78922109	78922109	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	32	3	.	.	ENST00000261751.3:c.538G>T	p.Glu180Ter	p.E180*	ENST00000261751	NM_000750.3	180	Gag/Tag	0	1	1	UPI0000125276	0	NA	ENST00000261751		ENSG00000117971	1964		35	0		HGNC	p.E180X		CHRNB4		SNV							ENST00000261751	protein_coding	getma.org/?cm=var&var=hg19,15,78922109,C,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF385,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932		E/*		A	NA	650/2623		NA					YES	CHRNB4,stop_gained,p.Glu180Ter,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,;							HIGH	538/1497	E180*	ACHB4_HUMAN			Transcript			.	ENSP00000261751		CCDS10306.1			1	
WDR65	0	LGGM	GRCh37	1	43681058	43681058	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	3	.	.				ENST00000528956	NM_152498.3			0	1		UPI0001D89705	0		ENST00000372492		ENSG00000243710	26485		38			HGNC	p.L688I		WDR65		SNV			1				ENST00000372492	protein_coding			hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215		L/I		A		2386/4244			deleterious(0.02)	E9PRV3_HUMAN				WDR65,missense_variant,p.Leu688Ile,ENST00000372492,NM_001195831.2;WDR65,downstream_gene_variant,,ENST00000528956,NM_152498.3,NM_001167965.1;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000461557,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000474566,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000466927,;WDR65,missense_variant,p.Leu12Ile,ENST00000428122,;							MODERATE	2062/3753		WDR65_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000361570					1	
CABP1	0	LGGM	GRCh37	12	121098036	121098036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	28	3	.	.	ENST00000316803.3:c.723G>T	p.Lys241Asn	p.K241N	ENST00000316803	NM_001033677.1	241	aaG/aaT	0	1	1	UPI00005B3D8A	0	getma.org/pdb.php?prot=CABP1_HUMAN&from=229&to=257&var=K241N	ENST00000316803		ENSG00000157782	1384		31	0.405		HGNC	p.K241N		CABP1		SNV							ENST00000316803	protein_coding	getma.org/?cm=var&var=hg19,12,121098036,G,T&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF121,PROSITE_patterns:PS00018,Pfam_domain:PF00036,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473		K/N		T	neutral	857/1658		getma.org/?cm=msa&ty=f&p=CABP1_HUMAN&rb=209&re=277&var=K241N	deleterious(0.03)				YES	CABP1,missense_variant,p.Lys177Asn,ENST00000453000,;CABP1,missense_variant,p.Lys241Asn,ENST00000316803,NM_001033677.1;CABP1,missense_variant,p.Lys98Asn,ENST00000288616,NM_031205.3;CABP1,missense_variant,p.Lys38Asn,ENST00000351200,NM_004276.4;CABP1,non_coding_transcript_exon_variant,,ENST00000498082,;							MODERATE	723/1113	K241N	CABP1_HUMAN			Transcript		possibly_damaging(0.605)	.	ENSP00000317310		CCDS31913.1			1	
KRT10	0	LGGM	GRCh37	17	38976342	38976342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	19	3	.	.	ENST00000269576.5:c.1114G>T	p.Val372Leu	p.V372L	ENST00000269576	NM_000421.3	372	Gta/Tta	0	1	1	UPI000013D842	0	getma.org/pdb.php?prot=K1C10_HUMAN&from=145&to=459&var=V372L	ENST00000269576		ENSG00000186395	6413		22	-0.935		HGNC	p.V372L		KRT10		SNV			1				ENST00000269576	protein_coding	getma.org/?cm=var&var=hg19,17,38976342,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF137,Superfamily_domains:SSF46579		V/L		A	neutral	1124/2124		getma.org/?cm=msa&ty=f&p=K1C10_HUMAN&rb=145&re=459&var=V372L	tolerated(1)				YES	KRT10,missense_variant,p.Val372Leu,ENST00000269576,NM_000421.3;TMEM99,intron_variant,,ENST00000301665,NM_145274.3,NM_001195387.1,NM_001195386.1;TMEM99,intron_variant,,ENST00000436612,;TMEM99,intron_variant,,ENST00000496847,;							MODERATE	1114/1755	V372L	K1C10_HUMAN			Transcript		benign(0.166)	.	ENSP00000269576		CCDS11377.1			1	
SEMA4D	0	LGGM	GRCh37	9	91993736	91993736	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	3	.	.	ENST00000450295.1:c.2472C>A	p.Ser824Arg	p.S824R	ENST00000450295		824	agC/agA	0	1		UPI0000135A6C	0	NA	ENST00000356444		ENSG00000187764	10732		27	0.895		HGNC	p.S824R		SEMA4D		SNV							ENST00000438547	protein_coding	getma.org/?cm=var&var=hg19,9,91993736,G,T&fts=all		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF18		S/R		T	low	2919/4503		getma.org/?cm=msa&ty=f&p=SEM4D_HUMAN&rb=655&re=860&var=S824R	deleterious(0.02)	F5H044_HUMAN,C9JYS7_HUMAN,C9JFP1_HUMAN,C9JD54_HUMAN				SEMA4D,missense_variant,p.Ser824Arg,ENST00000450295,;SEMA4D,missense_variant,p.Ser824Arg,ENST00000438547,NM_006378.3;SEMA4D,missense_variant,p.Ser824Arg,ENST00000356444,;SEMA4D,missense_variant,p.Ser824Arg,ENST00000422704,;SEMA4D,intron_variant,,ENST00000420987,NM_001142287.1;SEMA4D,intron_variant,,ENST00000339861,;SEMA4D,intron_variant,,ENST00000455551,;SEMA4D,intron_variant,,ENST00000343780,;SEMA4D,intron_variant,,ENST00000429836,;SEMA4D,intron_variant,,ENST00000537934,;SEMA4D,upstream_gene_variant,,ENST00000492386,;SEMA4D,downstream_gene_variant,,ENST00000486935,;SEMA4D,downstream_gene_variant,,ENST00000544513,;SEMA4D,downstream_gene_variant,,ENST00000540183,;							MODERATE	2472/2589	S824R	SEM4D_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000348822		CCDS6685.1			1	
LARP1B	0	LGGM	GRCh37	4	129028396	129028396	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	22	3	.	.	ENST00000326639.6:c.916C>T	p.Pro306Ser	p.P306S	ENST00000326639	NM_018078.3	306	Cca/Tca	0	1	1	UPI0000190831	0	NA	ENST00000326639		ENSG00000138709	24704		25	-0.29		HGNC	p.P306S		LARP1B		SNV							ENST00000441387	protein_coding	getma.org/?cm=var&var=hg19,4,129028396,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF50		P/S		T	neutral	1127/4891		getma.org/?cm=msa&ty=f&p=LAR1B_HUMAN&rb=296&re=912&var=P306S	tolerated(0.2)				YES	LARP1B,missense_variant,p.Pro306Ser,ENST00000326639,NM_018078.3;LARP1B,missense_variant,p.Pro306Ser,ENST00000441387,;LARP1B,missense_variant,p.Pro259Ser,ENST00000264584,;LARP1B,missense_variant,p.Pro306Ser,ENST00000512292,;LARP1B,missense_variant,p.Pro306Ser,ENST00000432347,NM_032239.3;LARP1B,missense_variant,p.Pro306Ser,ENST00000394288,NM_001278604.1;LARP1B,missense_variant,p.Pro259Ser,ENST00000508819,;LARP1B,missense_variant,p.Pro306Ser,ENST00000427266,NM_178043.2;LARP1B,missense_variant,p.Pro275Ser,ENST00000507377,;LARP1B,5_prime_UTR_variant,,ENST00000354456,;							MODERATE	916/2745	P306S	LAR1B_HUMAN			Transcript		benign(0.023)	.	ENSP00000321997		CCDS3738.1			1	
GPR68	0	LGGM	GRCh37	14	91701381	91701381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	18	3	.	.	ENST00000531499.2:c.14C>A	p.Thr5Asn	p.T5N	ENST00000531499		5	aCt/aAt	0	1	1	UPI000005042A	0	NA	ENST00000531499		ENSG00000119714	4519		21	1.355		HGNC	p.T15N		GPR68		SNV							ENST00000238699	protein_coding	getma.org/?cm=var&var=hg19,14,91701381,G,T&fts=all		Prints_domain:PR01564,hmmpanther:PTHR24234,hmmpanther:PTHR24234:SF5		T/N		T	low	354/2859		getma.org/?cm=msa&ty=f&p=OGR1_HUMAN&rb=1&re=37&var=T5N	deleterious(0.03)	E9PNU7_HUMAN			YES	GPR68,missense_variant,p.Thr5Asn,ENST00000531499,;GPR68,missense_variant,p.Thr5Asn,ENST00000535815,NM_001177676.1;GPR68,missense_variant,p.Thr15Asn,ENST00000238699,NM_003485.3;GPR68,missense_variant,p.Thr5Asn,ENST00000529102,;GPR68,downstream_gene_variant,,ENST00000529300,;							MODERATE	14/1098	T5N	OGR1_HUMAN			Transcript		benign(0.031)	.	ENSP00000434045		CCDS9894.2			1	
PRODH	0	LGGM	GRCh37	22	18909838	18909838	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	5	3	.	.	ENST00000357068.6:c.929G>A	p.Gly310Asp	p.G310D	ENST00000357068	NM_016335.4	310	gGc/gAc	0	1	1	UPI00001AE5E1	0	NA	ENST00000357068		ENSG00000100033	9453		8	2.77		HGNC	p.G202D		PRODH		SNV			1				ENST00000334029	protein_coding	getma.org/?cm=var&var=hg19,22,18909838,C,T&fts=all		Pfam_domain:PF01619,hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF4		G/D		T	medium	1195/2462		getma.org/?cm=msa&ty=f&p=PROD_HUMAN&rb=227&re=582&var=G310D	deleterious(0)	E7EQL6_HUMAN,C9JIW4_HUMAN			YES	PRODH,missense_variant,p.Gly310Asp,ENST00000357068,NM_016335.4;PRODH,missense_variant,p.Gly202Asp,ENST00000420436,;PRODH,missense_variant,p.Gly202Asp,ENST00000334029,NM_001195226.1;PRODH,missense_variant,p.Gly171Asp,ENST00000438924,;PRODH,downstream_gene_variant,,ENST00000450579,;PRODH,downstream_gene_variant,,ENST00000457083,;PRODH,splice_region_variant,,ENST00000429300,;PRODH,non_coding_transcript_exon_variant,,ENST00000482858,;PRODH,non_coding_transcript_exon_variant,,ENST00000491604,;PRODH,non_coding_transcript_exon_variant,,ENST00000399694,;PRODH,upstream_gene_variant,,ENST00000609229,;PRODH,upstream_gene_variant,,ENST00000313755,;PRODH,downstream_gene_variant,,ENST00000496625,;PRODH,upstream_gene_variant,,ENST00000446371,;							MODERATE	929/1803	G310D	PROD_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000349577		CCDS13754.1			1	
DDX54	0	LGGM	GRCh37	12	113618738	113618738	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	3	.	.	ENST00000314045.7:c.300C>A	p.Ser100=	p.S100=	ENST00000314045	NM_001111322.1	100	tcC/tcA	0	1		UPI00003588F0	0		ENST00000306014		ENSG00000123064	20084		27			HGNC	p.S100S		DDX54		SNV							ENST00000314045	protein_coding			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF71,PROSITE_profiles:PS51195		S		T		328/4377				F8VRX4_HUMAN				DDX54,synonymous_variant,p.=,ENST00000314045,NM_001111322.1;DDX54,synonymous_variant,p.=,ENST00000306014,NM_024072.3;DDX54,synonymous_variant,p.=,ENST00000552375,;RITA1,upstream_gene_variant,,ENST00000548278,NM_032848.1;RITA1,upstream_gene_variant,,ENST00000549621,;RITA1,upstream_gene_variant,,ENST00000552495,NM_001286215.1;RP11-545P7.4,downstream_gene_variant,,ENST00000552525,;Y_RNA,upstream_gene_variant,,ENST00000364338,;DDX54,intron_variant,,ENST00000551344,;DDX54,upstream_gene_variant,,ENST00000546869,;							LOW	300/2646		DDX54_HUMAN			Transcript			.	ENSP00000304072		CCDS31907.1			1	
DDX42	0	LGGM	GRCh37	17	61893007	61893007	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	20	3	.	.	ENST00000578681.1:c.1987C>A	p.Arg663=	p.R663=	ENST00000578681	NM_007372.3	663	Cgg/Agg	0	1		UPI000017DA3D	0		ENST00000389924		ENSG00000198231	18676		23			HGNC	p.R663R		DDX42		SNV							ENST00000389924	protein_coding			hmmpanther:PTHR24031:SF125,hmmpanther:PTHR24031		R		A		2173/3921				J3QRI2_HUMAN,B3KMI4_HUMAN				DDX42,synonymous_variant,p.=,ENST00000578681,NM_007372.3;DDX42,synonymous_variant,p.=,ENST00000583590,;DDX42,synonymous_variant,p.=,ENST00000389924,NM_203499.2;DDX42,synonymous_variant,p.=,ENST00000457800,;DDX42,synonymous_variant,p.=,ENST00000359353,;FTSJ3,downstream_gene_variant,,ENST00000427159,NM_017647.3;DDX42,upstream_gene_variant,,ENST00000582985,;DDX42,non_coding_transcript_exon_variant,,ENST00000584010,;DDX42,non_coding_transcript_exon_variant,,ENST00000578593,;DDX42,non_coding_transcript_exon_variant,,ENST00000584951,;DDX42,upstream_gene_variant,,ENST00000581767,;DDX42,downstream_gene_variant,,ENST00000577940,;FTSJ3,downstream_gene_variant,,ENST00000583202,;DDX42,upstream_gene_variant,,ENST00000579539,;DDX42,downstream_gene_variant,,ENST00000581477,;							LOW	1987/2817		DDX42_HUMAN			Transcript			.	ENSP00000374574		CCDS32704.1			1	
UGGT1	0	LGGM	GRCh37	2	128945090	128945090	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	18	3	.	.	ENST00000259253.6:c.4544A>G	p.Asp1515Gly	p.D1515G	ENST00000259253	NM_020120.3	1515	gAc/gGc	0	1	1	UPI00000707D8	0	NA	ENST00000259253		ENSG00000136731	15663		21	0.97		HGNC	p.D1491G	rs755317056	UGGT1		SNV				0.00197			ENST00000375990	protein_coding	getma.org/?cm=var&var=hg19,2,128945090,A,G&fts=all		hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3,Superfamily_domains:SSF53448		D/G		G	low	4591/10650	0.000463	getma.org/?cm=msa&ty=f&p=UGGG1_HUMAN&rb=1351&re=1550&var=D1515G	tolerated(0.3)				YES	UGGT1,missense_variant,p.Asp1491Gly,ENST00000375990,;UGGT1,missense_variant,p.Asp1515Gly,ENST00000259253,NM_020120.3;UGGT1,missense_variant,p.Asp91Gly,ENST00000418197,;UGGT1,non_coding_transcript_exon_variant,,ENST00000465836,;UGGT1,3_prime_UTR_variant,,ENST00000376723,;							MODERATE	4544/4668	D1515G	UGGG1_HUMAN	0.00205		Transcript		possibly_damaging(0.589)	common_variant	ENSP00000259253	0.000593	CCDS2154.1			1	
SALL2	0	LGGM	GRCh37	14	21992044	21992044	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	36	3	.	.	ENST00000327430.3:c.1818G>T	p.Ala606=	p.A606=	ENST00000327430	NM_005407.1	606	gcG/gcT	0	1	1	UPI00001AF54D	0		ENST00000327430		ENSG00000165821	10526		39			HGNC	p.A606A		SALL2		SNV			1				ENST00000327430	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233		A		A		2113/4925				F5H1G6_HUMAN			YES	SALL2,synonymous_variant,p.=,ENST00000327430,NM_005407.1;SALL2,synonymous_variant,p.=,ENST00000450879,;SALL2,synonymous_variant,p.=,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,;							LOW	1818/3024		SALL2_HUMAN			Transcript			.	ENSP00000333537		CCDS32045.1			1	
PITRM1	0	LGGM	GRCh37	10	3199641	3199641	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	37	3	.	.	ENST00000380989.2:c.1333C>A	p.Leu445Met	p.L445M	ENST00000380989	NM_014889.3	445	Ctg/Atg	0	1		UPI00001F8A38	0	NA	ENST00000224949		ENSG00000107959	17663		40	1.7		HGNC	p.L445M		PITRM1		SNV							ENST00000224949	protein_coding	getma.org/?cm=var&var=hg19,10,3199641,G,T&fts=all		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF68,Superfamily_domains:SSF63411		L/M		T	low	1368/3450		getma.org/?cm=msa&ty=f&p=PREP_HUMAN&rb=433&re=503&var=L445M	deleterious(0.03)					PITRM1,missense_variant,p.Leu445Met,ENST00000380989,NM_014889.3,NM_001242307.1;PITRM1,missense_variant,p.Leu445Met,ENST00000224949,;PITRM1,missense_variant,p.Leu413Met,ENST00000451104,NM_001242309.1;PITRM1,missense_variant,p.Leu82Met,ENST00000430362,;PITRM1,5_prime_UTR_variant,,ENST00000380994,;PITRM1-AS1,intron_variant,,ENST00000598280,;PITRM1-AS1,intron_variant,,ENST00000601046,;							MODERATE	1333/3114	L445M	PREP_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000224949		CCDS59208.1			1	
DEF6	0	LGGM	GRCh37	6	35277503	35277503	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	33	3	.	.	ENST00000316637.5:c.153G>T	p.Leu51=	p.L51=	ENST00000316637	NM_022047.3	51	ctG/ctT	0	1	1	UPI000006E74E	0		ENST00000316637		ENSG00000023892	2760		36			HGNC	p.L51L		DEF6		SNV							ENST00000316637	protein_coding			hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF2,Superfamily_domains:SSF47473		L		T		158/2262							YES	DEF6,synonymous_variant,p.=,ENST00000316637,NM_022047.3;DEF6,5_prime_UTR_variant,,ENST00000542066,;DEF6,upstream_gene_variant,,ENST00000444278,;							LOW	153/1896		DEFI6_HUMAN			Transcript			.	ENSP00000319831		CCDS4802.1			1	
PTBP2	0	LGGM	GRCh37	1	97236372	97236372	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	41	3	.	.	ENST00000426398.2:c.397C>A	p.His133Asn	p.H133N	ENST00000426398	NM_021190.2	133	Cac/Aac	0	1	1	UPI000006F5BE	0	getma.org/pdb.php?prot=PTBP2_HUMAN&from=59&to=133&var=H133N	ENST00000426398		ENSG00000117569	17662		44	3.32		HGNC	p.H144N		PTBP2		SNV							ENST00000394184	protein_coding	getma.org/?cm=var&var=hg19,1,97236372,C,A&fts=all		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF21,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01649		H/N		A	medium	440/3027		getma.org/?cm=msa&ty=f&p=PTBP2_HUMAN&rb=59&re=133&var=H133N	deleterious(0)				YES	PTBP2,missense_variant,p.His133Asn,ENST00000609116,;PTBP2,missense_variant,p.His133Asn,ENST00000370197,;PTBP2,missense_variant,p.His133Asn,ENST00000370198,;PTBP2,missense_variant,p.His133Asn,ENST00000426398,NM_021190.2;PTBP2,missense_variant,p.His144Asn,ENST00000394184,;PTBP2,missense_variant,p.His102Asn,ENST00000541987,;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,;PTBP2,non_coding_transcript_exon_variant,,ENST00000476419,;PTBP2,non_coding_transcript_exon_variant,,ENST00000460706,;							MODERATE	397/1596	H133N	PTBP2_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000412788		CCDS754.1			1	
RBM6	0	LGGM	GRCh37	3	50112687	50112687	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	3	.	.	ENST00000266022.4:c.3170G>T	p.Cys1057Phe	p.C1057F	ENST00000266022	NM_005777.2	1057	tGt/tTt	0	1	1	UPI000013D6C0	0	NA	ENST00000266022		ENSG00000004534	9903		38	1.5		HGNC	p.C53F		RBM6		SNV							ENST00000421682	protein_coding	getma.org/?cm=var&var=hg19,3,50112687,G,T&fts=all		Pfam_domain:PF01585,PROSITE_profiles:PS50174,hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF22,SMART_domains:SM00443		C/F		T	low	3429/3748		getma.org/?cm=msa&ty=f&p=RBM6_HUMAN&rb=1051&re=1095&var=C1057F	tolerated(0.16)	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN			YES	RBM6,missense_variant,p.Cys925Phe,ENST00000443081,;RBM6,missense_variant,p.Cys1057Phe,ENST00000266022,NM_005777.2;RBM6,missense_variant,p.Cys535Phe,ENST00000422955,;RBM6,missense_variant,p.Cys535Phe,ENST00000442092,NM_001167582.1;RBM6,missense_variant,p.Cys399Phe,ENST00000539992,;RBM6,missense_variant,p.Cys53Phe,ENST00000421682,;RBM6,3_prime_UTR_variant,,ENST00000454079,;RBM6,3_prime_UTR_variant,,ENST00000419610,;RBM6,intron_variant,,ENST00000434592,;							MODERATE	3170/3372	C1057F	RBM6_HUMAN			Transcript		benign(0.058)	.	ENSP00000266022		CCDS2809.1			1	
HECTD4	0	LGGM	GRCh37	12	112600303	112600303	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	30	3	.	.	ENST00000550722.1:c.12707G>T	p.Arg4236Leu	p.R4236L	ENST00000550722	NM_001109662.3	4236	cGc/cTc	0	1	1	UPI00020CE513	0	getma.org/pdb.php?prot=K0614_HUMAN&from=3656&to=3993&var=R3960L	ENST00000550722		ENSG00000173064	26611		33	1.965		HGNC	p.R3960L		HECTD4		SNV							ENST00000430131	protein_coding	getma.org/?cm=var&var=hg19,12,112600303,C,A&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204		R/L		A	medium	13103/15405		getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=3656&re=3993&var=R3960L		F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,missense_variant,p.Arg4236Leu,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Arg3960Leu,ENST00000430131,;HECTD4,missense_variant,p.Arg4210Leu,ENST00000377560,;HECTD4,upstream_gene_variant,,ENST00000549141,;HECTD4,upstream_gene_variant,,ENST00000549306,;HECTD4,downstream_gene_variant,,ENST00000547085,;HECTD4,downstream_gene_variant,,ENST00000548140,;							MODERATE	12707/12819	R3960L				Transcript		probably_damaging(0.994)	.	ENSP00000449784					1	
GPRC6A	0	LGGM	GRCh37	6	117130563	117130563	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	3	.	.	ENST00000310357.3:c.412C>A	p.Pro138Thr	p.P138T	ENST00000310357	NM_148963.2	138	Cca/Aca	0	1	1	UPI000013EFF9	0	getma.org/pdb.php?prot=GPC6A_HUMAN&from=73&to=482&var=P138T	ENST00000310357		ENSG00000173612	18510		27	2.35		HGNC	p.P138T		GPRC6A		SNV							ENST00000368549	protein_coding	getma.org/?cm=var&var=hg19,6,117130563,G,T&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00592,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Superfamily_domains:SSF53822		P/T		T	medium	434/2860		getma.org/?cm=msa&ty=f&p=GPC6A_HUMAN&rb=73&re=482&var=P138T	deleterious(0)				YES	GPRC6A,missense_variant,p.Pro138Thr,ENST00000310357,NM_148963.2;GPRC6A,missense_variant,p.Pro138Thr,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Pro138Thr,ENST00000530250,NM_001286354.1;							MODERATE	412/2781	P138T	GPC6A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000309493		CCDS5112.1			1	
MMRN1	0	LGGM	GRCh37	4	90856474	90856474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	3	.	.	ENST00000394980.1:c.1643C>A	p.Thr548Asn	p.T548N	ENST00000394980		548	aCt/aAt	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		38	1.04		HGNC	p.T290N		MMRN1		SNV							ENST00000508372	protein_coding	getma.org/?cm=var&var=hg19,4,90856474,C,A&fts=all		hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427		T/N		A	low	1714/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=380&re=944&var=T548N	tolerated(0.1)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Thr548Asn,ENST00000394980,;MMRN1,missense_variant,p.Thr548Asn,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Thr290Asn,ENST00000508372,;MMRN1,intron_variant,,ENST00000394981,;							MODERATE	1643/3687	T548N	MMRN1_HUMAN			Transcript		benign(0.235)	.	ENSP00000264790		CCDS3635.1			1	
ZNF268	0	LGGM	GRCh37	12	133764567	133764567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	31	3	.	.	ENST00000536435.2:c.143C>A	p.Thr48Lys	p.T48K	ENST00000536435	NM_003415.2	48	aCa/aAa	0	1		UPI000013C33E	0	NA	ENST00000228289		ENSG00000090612	13061		34	0.345		HGNC	p.T48K		ZNF268		SNV							ENST00000539248	protein_coding	getma.org/?cm=var&var=hg19,12,133764567,C,A&fts=all		Low_complexity_(Seg):seg		T/K		A	neutral	349/3543		getma.org/?cm=msa&ty=f&p=ZN268_HUMAN&rb=1&re=80&var=T48K	tolerated_low_confidence(0.67)	Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN				ZNF268,missense_variant,p.Thr48Lys,ENST00000536435,NM_003415.2,NM_001165885.1;ZNF268,missense_variant,p.Thr48Lys,ENST00000541009,NM_152943.2;ZNF268,missense_variant,p.Thr48Lys,ENST00000542986,;ZNF268,missense_variant,p.Thr48Lys,ENST00000228289,NM_001165882.2,NM_001165881.2;CTD-2140B24.4,missense_variant,p.Thr213Lys,ENST00000540096,;ZNF268,missense_variant,p.Thr213Lys,ENST00000416488,;ZNF268,missense_variant,p.Thr48Lys,ENST00000541211,;ZNF268,missense_variant,p.Thr48Lys,ENST00000539248,NM_001165883.1;ZNF268,5_prime_UTR_variant,,ENST00000500625,;ZNF268,5_prime_UTR_variant,,ENST00000541975,;ZNF268,intron_variant,,ENST00000537565,;ZNF268,intron_variant,,ENST00000536899,NM_001165884.2;ZNF268,intron_variant,,ENST00000542711,NM_001165886.1;ZNF268,intron_variant,,ENST00000592241,NM_001165887.1;ZNF268,upstream_gene_variant,,ENST00000591951,;ZNF268,3_prime_UTR_variant,,ENST00000546126,;ZNF268,non_coding_transcript_exon_variant,,ENST00000537973,;ZNF268,intron_variant,,ENST00000588312,;ZNF268,upstream_gene_variant,,ENST00000585488,;ZNF268,upstream_gene_variant,,ENST00000534953,;							MODERATE	143/2844	T48K	ZN268_HUMAN			Transcript		benign(0.003)	.	ENSP00000228289		CCDS45012.1			1	
CHAT	0	LGGM	GRCh37	10	50860020	50860020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	39	3	.	.	ENST00000337653.2:c.1602C>A	p.Phe534Leu	p.F534L	ENST00000337653	NM_020549.4	534	ttC/ttA	0	1	1	UPI000013F1B9	0	getma.org/pdb.php?prot=CLAT_HUMAN&from=130&to=720&var=F534L	ENST00000337653		ENSG00000070748	1912		42	2.695		HGNC	p.F534L		CHAT		SNV			1				ENST00000337653	protein_coding	getma.org/?cm=var&var=hg19,10,50860020,C,A&fts=all		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF14,Superfamily_domains:SSF52777		F/L		A	medium	1755/2458		getma.org/?cm=msa&ty=f&p=CLAT_HUMAN&rb=130&re=720&var=F534L	deleterious(0.03)	Q6LEN6_HUMAN,Q6LEN5_HUMAN,Q6LDF3_HUMAN			YES	CHAT,missense_variant,p.Phe452Leu,ENST00000395562,NM_001142934.1,NM_001142933.1;CHAT,missense_variant,p.Phe534Leu,ENST00000337653,NM_020549.4,NM_001142929.1;CHAT,missense_variant,p.Phe416Leu,ENST00000351556,NM_020985.3;CHAT,missense_variant,p.Phe416Leu,ENST00000339797,NM_020984.3;CHAT,missense_variant,p.Phe416Leu,ENST00000395559,NM_020986.3;CHAT,missense_variant,p.Phe416Leu,ENST00000455728,;CHAT,3_prime_UTR_variant,,ENST00000466590,;							MODERATE	1602/2247	F534L	CLAT_HUMAN			Transcript		possibly_damaging(0.625)	.	ENSP00000337103		CCDS7232.1			1	
XRN1	0	LGGM	GRCh37	3	142089417	142089417	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	29	3	.	.	ENST00000264951.4:c.3114T>A	p.Pro1038=	p.P1038=	ENST00000264951	NM_019001.3	1038	ccT/ccA	0	1	1	UPI0000074113	0		ENST00000264951		ENSG00000114127	30654		32			HGNC	p.P1038P		XRN1		SNV							ENST00000392981	protein_coding			hmmpanther:PTHR12341:SF9,hmmpanther:PTHR12341,PIRSF_domain:PIRSF006743		P		T		3232/10143				C9JCZ8_HUMAN			YES	XRN1,synonymous_variant,p.=,ENST00000264951,NM_019001.3;XRN1,synonymous_variant,p.=,ENST00000498077,;XRN1,synonymous_variant,p.=,ENST00000392981,NM_001042604.1,NM_001282857.1;XRN1,non_coding_transcript_exon_variant,,ENST00000467077,;XRN1,non_coding_transcript_exon_variant,,ENST00000472625,;							LOW	3114/5121		XRN1_HUMAN			Transcript			.	ENSP00000264951		CCDS3123.1			1	
MBD6	0	LGGM	GRCh37	12	57920577	57920577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	3	.	.	ENST00000355673.3:c.1649C>A	p.Pro550His	p.P550H	ENST00000355673	NM_052897.3	550	cCt/cAt	0	1	1	UPI000012ED13	0	NA	ENST00000355673		ENSG00000166987	20445		27	0		HGNC	p.P51H		MBD6		SNV							ENST00000547545	protein_coding	getma.org/?cm=var&var=hg19,12,57920577,C,A&fts=all		hmmpanther:PTHR16112,Low_complexity_(Seg):seg		P/H		A	neutral	2005/4282		getma.org/?cm=msa&ty=f&p=MBD6_HUMAN&rb=507&re=706&var=P550H	deleterious_low_confidence(0.01)	F8VZD7_HUMAN,F8VVK7_HUMAN,F8VU14_HUMAN,F8VPC4_HUMAN,F8VNX1_HUMAN			YES	MBD6,missense_variant,p.Pro550His,ENST00000355673,NM_052897.3;MBD6,missense_variant,p.Pro550His,ENST00000431731,;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,,ENST00000546758,;MBD6,downstream_gene_variant,,ENST00000546632,;MBD6,downstream_gene_variant,,ENST00000546805,;MBD6,upstream_gene_variant,,ENST00000552163,;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,;MBD6,downstream_gene_variant,,ENST00000549231,;MBD6,missense_variant,p.Pro51His,ENST00000547545,;DCTN2,downstream_gene_variant,,ENST00000550201,;DCTN2,downstream_gene_variant,,ENST00000549394,;MBD6,upstream_gene_variant,,ENST00000548550,;MBD6,downstream_gene_variant,,ENST00000549042,;MBD6,upstream_gene_variant,,ENST00000547844,;							MODERATE	1649/3012	P550H	MBD6_HUMAN			Transcript		unknown(0)	.	ENSP00000347896		CCDS8944.1			1	
SPRED2	0	LGGM	GRCh37	2	65559139	65559139	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	3	.	.	ENST00000356388.4:c.420C>T	p.Gly140=	p.G140=	ENST00000356388	NM_181784.2	140	ggC/ggT	0	1	1	UPI000013E7B4	0		ENST00000356388		ENSG00000198369	17722		38			HGNC	p.G72G		SPRED2		SNV							ENST00000421087	protein_coding			hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF11		G		A		610/4097				C9J623_HUMAN			YES	SPRED2,synonymous_variant,p.=,ENST00000356388,NM_181784.2;SPRED2,synonymous_variant,p.=,ENST00000443619,NM_001128210.1;SPRED2,synonymous_variant,p.=,ENST00000452315,;SPRED2,synonymous_variant,p.=,ENST00000421087,;SPRED2,downstream_gene_variant,,ENST00000440972,;SPRED2,non_coding_transcript_exon_variant,,ENST00000474228,;SPRED2,downstream_gene_variant,,ENST00000426832,;							LOW	420/1257		SPRE2_HUMAN			Transcript			.	ENSP00000348753		CCDS33211.1			1	
ANTXR2	0	LGGM	GRCh37	4	80929692	80929692	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	30	3	.	.	ENST00000307333.7:c.1024C>T	p.Pro342Ser	p.P342S	ENST00000307333	NM_001145794.1	342	Ccc/Tcc	0	1	1	UPI000036725D	0	NA	ENST00000307333		ENSG00000163297	21732		33	2.51		HGNC	p.P342S		ANTXR2		SNV			1				ENST00000403729	protein_coding	getma.org/?cm=var&var=hg19,4,80929692,G,A&fts=all		PIRSF_domain:PIRSF038023,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF13		P/S		A	medium	1027/1473		getma.org/?cm=msa&ty=f&p=ANTR2_HUMAN&rb=319&re=393&var=P342S	deleterious(0.01)				YES	ANTXR2,missense_variant,p.Pro342Ser,ENST00000403729,NM_058172.5;ANTXR2,missense_variant,p.Pro342Ser,ENST00000307333,NM_001145794.1;ANTXR2,missense_variant,p.Pro265Ser,ENST00000404191,NM_001286780.1,NM_001286781.1;ANTXR2,missense_variant,p.Pro239Ser,ENST00000346652,;ANTXR2,3_prime_UTR_variant,,ENST00000449651,;							MODERATE	1024/1470	P342S	ANTR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000306185		CCDS47086.1			1	
PLEC	0	LGGM	GRCh37	8	145010109	145010109	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	32	3	.	.	ENST00000322810.4:c.920G>T	p.Arg307Leu	p.R307L	ENST00000322810	NM_201380.2	307	cGa/cTa	0	1	1	UPI0000233FCD	0	getma.org/pdb.php?prot=PLEC_HUMAN&from=298&to=400&var=R307L	ENST00000322810		ENSG00000178209	9069		35	2.135		HGNC	p.R197L		PLEC		SNV			1				ENST00000527096	protein_coding	getma.org/?cm=var&var=hg19,8,145010109,C,A&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00033,Superfamily_domains:SSF47576		R/L		A	medium	1090/15249		getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=298&re=400&var=R307L		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Arg307Leu,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Arg170Leu,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Arg197Leu,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Arg148Leu,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Arg170Leu,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Arg174Leu,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Arg156Leu,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Arg138Leu,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Arg197Leu,ENST00000527096,;PLEC,missense_variant,p.Arg214Leu,ENST00000528025,;PLEC,missense_variant,p.Arg147Leu,ENST00000526416,;PLEC,missense_variant,p.Arg76Leu,ENST00000527816,;PLEC,downstream_gene_variant,,ENST00000528131,;PLEC,downstream_gene_variant,,ENST00000532346,;							MODERATE	920/14055	R307L	PLEC_HUMAN			Transcript		unknown(0)	.	ENSP00000323856		CCDS43772.1			1	
CNN3	0	LGGM	GRCh37	1	95363547	95363547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	46	3	.	.	ENST00000370206.4:c.741G>T	p.Met247Ile	p.M247I	ENST00000370206	NM_001839.3	247	atG/atT	0	1	1	UPI0000127B01	0	NA	ENST00000370206		ENSG00000117519	2157		49	3.07		HGNC	p.M201I		CNN3		SNV							ENST00000394202	protein_coding	getma.org/?cm=var&var=hg19,1,95363547,C,A&fts=all		Pfam_domain:PF00402,PROSITE_patterns:PS01052,PROSITE_profiles:PS51122,hmmpanther:PTHR18959		M/I		A	medium	1125/2165		getma.org/?cm=msa&ty=f&p=CNN3_HUMAN&rb=223&re=288&var=M247I	deleterious(0.01)	Q9BWY6_HUMAN,E9PDU6_HUMAN,B4DFK6_HUMAN			YES	CNN3,missense_variant,p.Met247Ile,ENST00000370206,NM_001839.3;CNN3,missense_variant,p.Met247Ile,ENST00000538964,;CNN3,missense_variant,p.Met201Ile,ENST00000394202,NM_001286055.1;CNN3,missense_variant,p.Met206Ile,ENST00000545882,NM_001286056.1;SLC44A3,downstream_gene_variant,,ENST00000271227,NM_001258340.1,NM_001114106.2,NM_001258341.1;SLC44A3,downstream_gene_variant,,ENST00000446120,NM_001258342.1;SLC44A3,downstream_gene_variant,,ENST00000467909,NM_152369.4;SLC44A3,downstream_gene_variant,,ENST00000529450,;SLC44A3,downstream_gene_variant,,ENST00000527077,NM_001258343.1;SLC44A3,downstream_gene_variant,,ENST00000532427,;CNN3,downstream_gene_variant,,ENST00000415017,;SLC44A3,downstream_gene_variant,,ENST00000532670,;CNN3,non_coding_transcript_exon_variant,,ENST00000487539,;CNN3,non_coding_transcript_exon_variant,,ENST00000461018,;CNN3,downstream_gene_variant,,ENST00000474409,;SLC44A3,downstream_gene_variant,,ENST00000475883,;							MODERATE	741/990	M247I	CNN3_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000359225		CCDS30775.1			1	
KIF4A	0	LGGM	GRCh37	X	69637854	69637854	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	22	3	.	.	ENST00000374403.3:c.3372G>T	p.Lys1124Asn	p.K1124N	ENST00000374403	NM_012310.4	1124	aaG/aaT	0	1	1	UPI000013D32A	0	NA	ENST00000374403		ENSG00000090889	13339		25	0		HGNC	p.K1124N		KIF4A		SNV							ENST00000374403	protein_coding	getma.org/?cm=var&var=hg19,X,69637854,G,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF393		K/N		T	neutral	3454/4348		getma.org/?cm=msa&ty=f&p=KIF4A_HUMAN&rb=378&re=1230&var=K1124N	tolerated(0.45)				YES	KIF4A,missense_variant,p.Lys1124Asn,ENST00000374403,NM_012310.4;KIF4A,downstream_gene_variant,,ENST00000374388,;							MODERATE	3372/3699	K1124N	KIF4A_HUMAN			Transcript		benign(0.025)	.	ENSP00000363524		CCDS14401.1			1	
GARIN3	0	LGGM	GRCh37	5	156590070	156590070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	43	3	.	.	ENST00000302938.4:c.1206G>T	p.Leu402Phe	p.L402F	ENST00000302938	NM_130899.2	402	ttG/ttT	0	1	1	UPI000006F9DC	0	NA	ENST00000302938		ENSG00000170613	28397		46	2.32		HGNC	p.L402F		FAM71B		SNV							ENST00000302938	protein_coding	getma.org/?cm=var&var=hg19,5,156590070,C,A&fts=all		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2		L/F		A	medium	1302/2515		getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=352&re=491&var=L402F	deleterious(0)				YES	FAM71B,missense_variant,p.Leu402Phe,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;							MODERATE	1206/1818	L402F	FA71B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305596		CCDS4335.1			1	
MYO5C	0	LGGM	GRCh37	15	52486250	52486250	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	44	3	.	.	ENST00000261839.7:c.5078C>A	p.Ala1693Asp	p.A1693D	ENST00000261839	NM_018728.3	1693	gCt/gAt	0	1	1	UPI000013D20E	0	NA	ENST00000261839		ENSG00000128833	7604		47	0.69		HGNC	p.A1693D		MYO5C		SNV							ENST00000261839	protein_coding	getma.org/?cm=var&var=hg19,15,52486250,G,T&fts=all		PROSITE_profiles:PS51126,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140		A/D		T	neutral	5240/6971		getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=1421&re=1697&var=A1693D	tolerated(0.47)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Ala1693Asp,ENST00000261839,NM_018728.3;GNB5,upstream_gene_variant,,ENST00000261837,NM_016194.3;RP11-430B1.2,intron_variant,,ENST00000560518,;RP11-430B1.2,intron_variant,,ENST00000559779,;MYO5C,splice_region_variant,,ENST00000560809,;GNB5,upstream_gene_variant,,ENST00000560075,;							MODERATE	5078/5229	A1693D	MYO5C_HUMAN			Transcript		benign(0.347)	.	ENSP00000261839		CCDS42036.1			1	
RANBP6	0	LGGM	GRCh37	9	6015060	6015060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	43	3	.	.	ENST00000259569.5:c.548G>T	p.Arg183Leu	p.R183L	ENST00000259569	NM_012416.3	183	cGg/cTg	0	1	1	UPI000013D061	0	NA	ENST00000259569		ENSG00000137040	9851		46	1.59		HGNC	p.R183L		RANBP6		SNV							ENST00000259569	protein_coding	getma.org/?cm=var&var=hg19,9,6015060,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527		R/L		A	low	559/4576		getma.org/?cm=msa&ty=f&p=RNBP6_HUMAN&rb=1&re=200&var=R183L	deleterious(0.02)	B4E340_HUMAN			YES	RANBP6,missense_variant,p.Arg183Leu,ENST00000259569,NM_012416.3,NM_001243203.1,NM_001243202.1;RANBP6,intron_variant,,ENST00000485372,;							MODERATE	548/3318	R183L	RNBP6_HUMAN			Transcript		benign(0.017)	.	ENSP00000259569		CCDS6467.1			1	
POM121	0	LGGM	GRCh37	7	72396036	72396036	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	7	3	.	.	ENST00000395270.1:c.-151-764T>C		*51*	ENST00000395270	NM_001257190.2			0	1		UPI00017BE7A5	0		ENST00000434423		ENSG00000196313	19702		10			HGNC	p.L126P		POM121		SNV							ENST00000434423	protein_coding			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5		L/P		C		377/3750			deleterious(0.01)	A8MY32_HUMAN				POM121,missense_variant,p.Leu126Pro,ENST00000434423,;POM121,intron_variant,,ENST00000395270,NM_001257190.2;POM121,intron_variant,,ENST00000257622,NM_172020.4;POM121,intron_variant,,ENST00000358357,;POM121,intron_variant,,ENST00000446813,;RP11-313P13.5,upstream_gene_variant,,ENST00000608799,;							MODERATE	377/3750		P121A_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000405562					1	
COL24A1	0	LGGM	GRCh37	1	86487930	86487930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	34	3	.	.	ENST00000370571.2:c.2249G>T	p.Gly750Val	p.G750V	ENST00000370571	NM_152890.5	750	gGg/gTg	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		37	4.31		HGNC	p.G750V		COL24A1		SNV							ENST00000426639	protein_coding	getma.org/?cm=var&var=hg19,1,86487930,C,A&fts=all		Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		G/V		A	high	2616/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=733&re=799&var=G750V	deleterious(0)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Gly750Val,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Gly750Val,ENST00000436319,;COL24A1,missense_variant,p.Gly750Val,ENST00000426639,;							MODERATE	2249/5145	G750V	COOA1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000359603		CCDS41353.1			1	
ASPSCR1	0	LGGM	GRCh37	17	79973055	79973055	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	19	3	.	.	ENST00000306729.7:c.1458C>A	p.Gly486=	p.G486=	ENST00000306729	NM_001251888.1	486	ggC/ggA	0	1		UPI000004EF25	0		ENST00000306739		ENSG00000169696	13825		22			HGNC	p.G486G		ASPSCR1		SNV			1				ENST00000306729	protein_coding							A		-/1843				J3KRY8_HUMAN				ASPSCR1,synonymous_variant,p.=,ENST00000306729,NM_001251888.1;ASPSCR1,intron_variant,,ENST00000306739,NM_024083.3;ASPSCR1,intron_variant,,ENST00000580534,;ASPSCR1,intron_variant,,ENST00000582355,;ASPSCR1,intron_variant,,ENST00000583744,;STRA13,downstream_gene_variant,,ENST00000392359,NM_001271006.1;STRA13,downstream_gene_variant,,ENST00000584347,;STRA13,downstream_gene_variant,,ENST00000306704,NM_144998.3;STRA13,downstream_gene_variant,,ENST00000584600,;STRA13,downstream_gene_variant,,ENST00000580435,NM_001271007.1;STRA13,downstream_gene_variant,,ENST00000579520,;ASPSCR1,intron_variant,,ENST00000583142,;STRA13,downstream_gene_variant,,ENST00000583767,;STRA13,downstream_gene_variant,,ENST00000584514,;STRA13,downstream_gene_variant,,ENST00000577379,;STRA13,downstream_gene_variant,,ENST00000580090,;ASPSCR1,upstream_gene_variant,,ENST00000582404,;ASPSCR1,upstream_gene_variant,,ENST00000585140,;ASPSCR1,non_coding_transcript_exon_variant,,ENST00000583693,;ASPSCR1,intron_variant,,ENST00000577733,;ASPSCR1,intron_variant,,ENST00000578236,;ASPSCR1,intron_variant,,ENST00000581608,;ASPSCR1,intron_variant,,ENST00000584454,;ASPSCR1,intron_variant,,ENST00000585274,;ASPSCR1,intron_variant,,ENST00000578361,;STRA13,downstream_gene_variant,,ENST00000585091,;ASPSCR1,downstream_gene_variant,,ENST00000583503,;							MODIFIER	-/1662		ASPC1_HUMAN			Transcript			.	ENSP00000302176		CCDS11796.1			1	
ATG9A	0	LGGM	GRCh37	2	220089046	220089046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	29	3	.	.	ENST00000409618.1:c.1047G>T	p.Glu349Asp	p.E349D	ENST00000409618		349	gaG/gaT	0	1		UPI0000209615	0	NA	ENST00000361242		ENSG00000198925	22408		32	2.27		HGNC	p.E349D		ATG9A		SNV							ENST00000409618	protein_coding	getma.org/?cm=var&var=hg19,2,220089046,C,A&fts=all		hmmpanther:PTHR13038:SF13,hmmpanther:PTHR13038,Pfam_domain:PF04109		E/D		A	medium	1264/3130		getma.org/?cm=msa&ty=f&p=ATG9A_HUMAN&rb=172&re=533&var=E349D	deleterious(0.01)	C9JXG2_HUMAN,C9JX27_HUMAN,C9JS65_HUMAN,C9JKV7_HUMAN,C9JFV2_HUMAN,C9JDK4_HUMAN,C9JD65_HUMAN,C9IYZ9_HUMAN				ATG9A,missense_variant,p.Glu349Asp,ENST00000409618,;ATG9A,missense_variant,p.Glu349Asp,ENST00000396761,NM_024085.3;ATG9A,missense_variant,p.Glu349Asp,ENST00000361242,NM_001077198.1;ATG9A,missense_variant,p.Glu288Asp,ENST00000409422,;ATG9A,downstream_gene_variant,,ENST00000436856,;ATG9A,downstream_gene_variant,,ENST00000432520,;ATG9A,upstream_gene_variant,,ENST00000429920,;ATG9A,downstream_gene_variant,,ENST00000428226,;ATG9A,downstream_gene_variant,,ENST00000457841,;ATG9A,downstream_gene_variant,,ENST00000443140,;ATG9A,downstream_gene_variant,,ENST00000439812,;ATG9A,downstream_gene_variant,,ENST00000431715,;ATG9A,downstream_gene_variant,,ENST00000434939,;AC068946.1,upstream_gene_variant,,ENST00000408417,;ATG9A,downstream_gene_variant,,ENST00000488833,;ATG9A,missense_variant,p.Glu349Asp,ENST00000409033,;ATG9A,upstream_gene_variant,,ENST00000446716,;ATG9A,upstream_gene_variant,,ENST00000475339,;ATG9A,downstream_gene_variant,,ENST00000466217,;ATG9A,downstream_gene_variant,,ENST00000486766,;ATG9A,downstream_gene_variant,,ENST00000456708,;ATG9A,downstream_gene_variant,,ENST00000412355,;ATG9A,downstream_gene_variant,,ENST00000455079,;							MODERATE	1047/2520	E349D	ATG9A_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000355173		CCDS42820.1			1	
ELMSAN1	0	LGGM	GRCh37	14	74206212	74206212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	42	3	.	.	ENST00000286523.5:c.500G>T	p.Arg167Leu	p.R167L	ENST00000286523	NM_194278.3	167	cGg/cTg	0	1	1	UPI00001FD815	0	NA	ENST00000286523		ENSG00000156030	19853		45	0.805		HGNC	p.R167L	COSM367124	ELMSAN1		SNV						1	ENST00000435371	protein_coding	getma.org/?cm=var&var=hg19,14,74206212,C,A&fts=all		hmmpanther:PTHR16089:SF24,hmmpanther:PTHR16089		R/L		A	low	1283/8091		getma.org/?cm=msa&ty=f&p=CN043_HUMAN&rb=1&re=200&var=R167L	tolerated_low_confidence(0.07)	F6RU81_HUMAN,C9JYU7_HUMAN			YES	ELMSAN1,missense_variant,p.Arg167Leu,ENST00000286523,NM_194278.3;ELMSAN1,missense_variant,p.Arg167Leu,ENST00000394071,NM_001043318.1;ELMSAN1,missense_variant,p.Arg167Leu,ENST00000435371,;ELMSAN1,missense_variant,p.Arg167Leu,ENST00000423556,;ELMSAN1,downstream_gene_variant,,ENST00000421708,;ELMSAN1,downstream_gene_variant,,ENST00000486739,;ELMSAN1,upstream_gene_variant,,ENST00000451078,;					1		MODERATE	500/3138	R167L	EMSA1_HUMAN			Transcript		benign(0.016)	.	ENSP00000286523		CCDS9819.1			1	
ADAMTSL4	0	LGGM	GRCh37	1	150527919	150527919	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	27	3	.	.	ENST00000271643.4:c.1249C>A	p.Arg417Ser	p.R417S	ENST00000271643	NM_019032.4	417	Cgc/Agc	0	1	1	UPI00001E0572	0	getma.org/pdb.php?prot=ATL4_HUMAN&from=380&to=484&var=R417S	ENST00000271643		ENSG00000143382	19706		30	1.25		HGNC	p.R417S	rs752923405	ADAMTSL4		SNV			1				ENST00000369038	protein_coding	getma.org/?cm=var&var=hg19,1,150527919,C,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144		R/S		A	low	1485/4197	1.52E-05	getma.org/?cm=msa&ty=f&p=ATL4_HUMAN&rb=380&re=484&var=R417S	deleterious(0)	Q9UFG7_HUMAN,A8KAH2_HUMAN			YES	ADAMTSL4,missense_variant,p.Arg417Ser,ENST00000271643,NM_019032.4;ADAMTSL4,missense_variant,p.Arg417Ser,ENST00000369038,;ADAMTSL4,missense_variant,p.Arg440Ser,ENST00000369039,NM_001288608.1;ADAMTSL4,missense_variant,p.Arg417Ser,ENST00000369041,NM_025008.3;AL356356.1,downstream_gene_variant,,ENST00000538795,;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;							MODERATE	1249/3225	R417S	ATL4_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000271643	8.24E-06	CCDS955.1			1	
TMEM27	0	LGGM	GRCh37	X	15677178	15677178	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	16	3	.	.	ENST00000380342.3:c.164C>A	p.Ala55Asp	p.A55D	ENST00000380342	NM_020665.5	55	gCt/gAt	0	1	1	UPI000003777E	0	NA	ENST00000380342		ENSG00000147003	29437		19	2.82		HGNC	p.A55D		TMEM27		SNV							ENST00000380342	protein_coding	getma.org/?cm=var&var=hg19,X,15677178,G,T&fts=all		hmmpanther:PTHR10514		A/D		T	medium	420/1578		getma.org/?cm=msa&ty=f&p=TMM27_HUMAN&rb=2&re=220&var=A55D	deleterious(0)				YES	TMEM27,missense_variant,p.Ala55Asp,ENST00000380342,NM_020665.5;							MODERATE	164/669	A55D	TMM27_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000369699		CCDS14170.1			1	
INPP4A	0	LGGM	GRCh37	2	99136514	99136514	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	28	3	.	.	ENST00000074304.5:c.3G>T	p.Met1?	p.M1?	ENST00000074304	NM_001134224.1	1	atG/atT	0	1	1	UPI000006CD60	0	NA	ENST00000074304		ENSG00000040933	6074		31	0		HGNC	p.M1I		INPP4A		SNV							ENST00000523221	protein_coding	getma.org/?cm=var&var=hg19,2,99136514,G,T&fts=all		hmmpanther:PTHR12187:SF4,hmmpanther:PTHR12187		M/I		T	NA	396/6752		http://getma.org/?cm=msa&ty=f&p=INP4A_HUMAN&rb=1&re=609&var=M1I	deleterious_low_confidence(0)				YES	INPP4A,start_lost,p.Met1?,ENST00000409016,;INPP4A,start_lost,p.Met1?,ENST00000074304,NM_001134224.1,NM_004027.2;INPP4A,start_lost,p.Met1?,ENST00000545415,;INPP4A,start_lost,p.Met1?,ENST00000409851,NM_001134225.1;INPP4A,start_lost,p.Met1?,ENST00000409540,NM_001566.2;INPP4A,start_lost,p.Met1?,ENST00000523221,;INPP4A,start_lost,p.Met1?,ENST00000409463,;INPP4A,non_coding_transcript_exon_variant,,ENST00000463367,;							HIGH	Mar-34	M1I	INP4A_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000074304		CCDS46369.1			1	
KSR2	0	LGGM	GRCh37	12	118017001	118017001	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	19	3	.	.	ENST00000339824.5:c.1248C>A	p.Ser416=	p.S416=	ENST00000339824		416	tcC/tcA	0	1	1	UPI000152636C	0		ENST00000339824		ENSG00000171435	18610		22			HGNC	p.S113S		KSR2		SNV							ENST00000302438	protein_coding			Gene3D:3.30.60.20,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF376,SMART_domains:SM00109,Superfamily_domains:SSF57889		S		T		1976/4429				E9PB13_HUMAN			YES	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,;							LOW	1248/2853		KSR2_HUMAN			Transcript			.	ENSP00000339952					1	
MATK	0	LGGM	GRCh37	19	3785104	3785104	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	17	3	.	.	ENST00000395045.2:c.76-222G>T		*26*	ENST00000395045	NM_002378.3			0	1		UPI0000000C50	0	NA	ENST00000310132		ENSG00000007264	6906		20	0.55		HGNC	p.W10C		MATK		SNV							ENST00000585778	protein_coding	getma.org/?cm=var&var=hg19,19,3785104,C,A&fts=all				W/C		A	neutral	429/2133		getma.org/?cm=msa&ty=f&p=MATK_HUMAN&rb=1&re=58&var=W10C	tolerated_low_confidence(0.15)	K7ERY4_HUMAN,K7EQV3_HUMAN,K7ENL8_HUMAN,F1T0G6_HUMAN				MATK,missense_variant,p.Trp10Cys,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Trp10Cys,ENST00000585778,;MATK,missense_variant,p.Trp10Cys,ENST00000590028,;MATK,missense_variant,p.Trp10Cys,ENST00000591059,;MATK,intron_variant,,ENST00000395045,NM_002378.3;MATK,intron_variant,,ENST00000395040,NM_139354.2;MATK,intron_variant,,ENST00000590849,;MATK,upstream_gene_variant,,ENST00000590493,;MATK,upstream_gene_variant,,ENST00000587180,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000590821,;							MODERATE	30/1524	W10C	MATK_HUMAN			Transcript		benign(0.025)	.	ENSP00000308734		CCDS12114.1			1	
NCKAP1	0	LGGM	GRCh37	2	183853786	183853786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	40	3	.	.	ENST00000360982.2:c.937G>T	p.Ala313Ser	p.A313S	ENST00000360982	NM_013436.4	313	Gca/Tca	0	1		UPI0000000DED	0	getma.org/pdb.php?prot=NCKP1_HUMAN&from=8&to=1124&var=A307S	ENST00000361354		ENSG00000061676	7666		43	0.295		HGNC	p.A313S		NCKAP1		SNV							ENST00000360982	protein_coding	getma.org/?cm=var&var=hg19,2,183853786,C,A&fts=all		Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11		A/S		A	neutral	1292/20347		getma.org/?cm=msa&ty=f&p=NCKP1_HUMAN&rb=8&re=1124&var=A307S	tolerated(0.3)					NCKAP1,missense_variant,p.Ala307Ser,ENST00000361354,;NCKAP1,missense_variant,p.Ala313Ser,ENST00000360982,NM_013436.4,NM_205842.2;							MODERATE	919/3387	A307S	NCKP1_HUMAN			Transcript		benign(0.012)	.	ENSP00000355348		CCDS2287.1			1	
COL22A1	0	LGGM	GRCh37	8	139791775	139791775	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	36	3	.	.	ENST00000303045.6:c.1681C>A	p.Leu561Met	p.L561M	ENST00000303045	NM_152888.1	561	Ctg/Atg	0	1	1	UPI00001C1EA1	0	NA	ENST00000303045		ENSG00000169436	22989		39	1.38		HGNC	p.L561M		COL22A1		SNV							ENST00000303045	protein_coding	getma.org/?cm=var&var=hg19,8,139791775,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023,Pfam_domain:PF01391		L/M		T	low	2128/6346		getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=522&re=600&var=L561M					YES	COL22A1,missense_variant,p.Leu561Met,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Leu561Met,ENST00000435777,;COL22A1,missense_variant,p.Leu11Met,ENST00000522546,;							MODERATE	1681/4881	L561M	COMA1_HUMAN			Transcript		unknown(0)	.	ENSP00000303153		CCDS6376.1			1	
HYDIN	0	LGGM	GRCh37	16	70954823	70954823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	9	3	.	.	ENST00000393567.2:c.7456G>T	p.Gly2486Trp	p.G2486W	ENST00000393567	NM_001270974.1	2486	Ggg/Tgg	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		12	1.445		HGNC	p.G2486W		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70954823,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		G/W		A	low	7607/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2360&re=2511&var=G2486W		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Gly2486Trp,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;							MODERATE	7456/15366	G2486W	HYDIN_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000377197		CCDS59269.1			1	
NPC1	0	LGGM	GRCh37	18	21148877	21148877	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	46	3	.	.	ENST00000269228.5:c.373G>T	p.Ala125Ser	p.A125S	ENST00000269228	NM_000271.4	125	Gct/Tct	0	1	1	UPI000013D80F	0	getma.org/pdb.php?prot=NPC1_HUMAN&from=1&to=200&var=A125S	ENST00000269228		ENSG00000141458	7897		49	0.24		HGNC	p.A125S		NPC1		SNV			1				ENST00000269228	protein_coding	getma.org/?cm=var&var=hg19,18,21148877,C,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		A/S		A	neutral	928/5157		getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=1&re=200&var=A125S	tolerated(0.77)				YES	NPC1,missense_variant,p.Ala125Ser,ENST00000269228,NM_000271.4;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,downstream_gene_variant,,ENST00000587223,;							MODERATE	373/3837	A125S	NPC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000269228		CCDS11878.1			1	
FBLN7	0	LGGM	GRCh37	2	112922676	112922676	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	33	3	.	.	ENST00000331203.2:c.334C>A	p.Arg112=	p.R112=	ENST00000331203	NM_001128165.1	112	Cgg/Agg	0	1	1	UPI000004E556	0		ENST00000331203		ENSG00000144152	26740		36			HGNC	p.R112R		FBLN7		SNV							ENST00000409903	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF17,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		R		A		605/2299				B3KW35_HUMAN			YES	FBLN7,synonymous_variant,p.=,ENST00000331203,NM_001128165.1,NM_153214.2;FBLN7,synonymous_variant,p.=,ENST00000409903,;FBLN7,synonymous_variant,p.=,ENST00000409450,;FBLN7,synonymous_variant,p.=,ENST00000409667,;FBLN7,intron_variant,,ENST00000441565,;FBLN7,non_coding_transcript_exon_variant,,ENST00000472377,;							LOW	334/1320		FBLN7_HUMAN			Transcript			.	ENSP00000331411		CCDS2095.1			1	
RBM15	0	LGGM	GRCh37	1	110882899	110882899	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	30	3	.	.	ENST00000369784.3:c.872G>T	p.Arg291Ile	p.R291I	ENST00000369784	NM_022768.4	291	aGa/aTa	0	1	1	UPI000013E1C5	0	NA	ENST00000369784		ENSG00000162775	14959		33	0.975		HGNC	p.R291I		RBM15		SNV			1				ENST00000369784	protein_coding	getma.org/?cm=var&var=hg19,1,110882899,G,T&fts=all		hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF43,Low_complexity_(Seg):seg		R/I		T	low	1772/4244		getma.org/?cm=msa&ty=f&p=RBM15_HUMAN&rb=252&re=375&var=R291I	deleterious(0)				YES	RBM15,missense_variant,p.Arg291Ile,ENST00000369784,NM_022768.4;RBM15,missense_variant,p.Arg291Ile,ENST00000602849,;RBM15,missense_variant,p.Arg291Ile,ENST00000487146,NM_001201545.1;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;							MODERATE	872/2934	R291I	RBM15_HUMAN			Transcript		benign(0.01)	.	ENSP00000358799		CCDS822.1			1	
TNFRSF10A	0	LGGM	GRCh37	8	23059339	23059339	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	19	3	.	.	ENST00000221132.3:c.611G>T	p.Cys204Phe	p.C204F	ENST00000221132	NM_003844.3	204	tGc/tTc	0	1	1	UPI000013C7A8	0	getma.org/pdb.php?prot=TR10A_HUMAN&from=190&to=229&var=C204F	ENST00000221132		ENSG00000104689	11904		22	2.81		HGNC	p.C2F		TNFRSF10A		SNV							ENST00000524158	protein_coding	getma.org/?cm=var&var=hg19,8,23059339,C,A&fts=all		PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF41,PROSITE_patterns:PS00652,Gene3D:2.10.50.10,Pfam_domain:PF00020,PIRSF_domain:PIRSF037867,SMART_domains:SM00208,Superfamily_domains:SSF57586,Prints_domain:PR01956		C/F		A	medium	676/2714		getma.org/?cm=msa&ty=f&p=TR10A_HUMAN&rb=190&re=229&var=C204F	deleterious(0)	E5RFH1_HUMAN			YES	TNFRSF10A,missense_variant,p.Cys204Phe,ENST00000221132,NM_003844.3;TNFRSF10A,missense_variant,p.Cys2Phe,ENST00000524158,;TNFRSF10A,upstream_gene_variant,,ENST00000519862,;							MODERATE	611/1407	C204F	TR10A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000221132		CCDS6039.1			1	
C18orf54	0	LGGM	GRCh37	18	51900619	51900619	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	39	3	.	.	ENST00000300091.5:c.1011G>T	p.Lys337Asn	p.K337N	ENST00000300091	NM_173529.4	337	aaG/aaT	0	1	1	UPI0000074279	0	NA	ENST00000300091		ENSG00000166845	13796		42	1.79		HGNC	p.K498N		C18orf54		SNV							ENST00000382911	protein_coding	getma.org/?cm=var&var=hg19,18,51900619,G,T&fts=all				K/N		T	low	1343/5237		getma.org/?cm=msa&ty=f&p=LAS2_HUMAN&rb=201&re=372&var=K337N	tolerated(0.51)	J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN			YES	C18orf54,missense_variant,p.Lys337Asn,ENST00000300091,NM_173529.4;C18orf54,missense_variant,p.Lys498Asn,ENST00000382911,;C18orf54,missense_variant,p.Lys116Asn,ENST00000578138,;C18orf54,non_coding_transcript_exon_variant,,ENST00000582188,;C18orf54,upstream_gene_variant,,ENST00000579594,;							MODERATE	1011/1119	K337N	LAS2_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000300091		CCDS11956.1			1	
HYDIN	0	LGGM	GRCh37	16	70993558	70993558	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	33	3	.	.	ENST00000393567.2:c.6134C>A	p.Pro2045His	p.P2045H	ENST00000393567	NM_001270974.1	2045	cCc/cAc	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		36	2.28		HGNC	p.P2045H		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70993558,G,T&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		P/H		T	medium	6285/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2004&re=2203&var=P2045H		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Pro2045His,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000546297,;							MODERATE	6134/15366	P2045H	HYDIN_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000377197		CCDS59269.1			1	
ZNF266	0	LGGM	GRCh37	19	9525062	9525062	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	46	3	.	.	ENST00000592904.1:c.539G>T	p.Gly180Val	p.G180V	ENST00000592904		180	gGa/gTa	0	1		UPI00001D4705	0	getma.org/pdb.php?prot=ZN266_HUMAN&from=1&to=200&var=G180V	ENST00000588221		ENSG00000174652	13059		49	2.765		HGNC	p.G180V		ZNF266		SNV							ENST00000361451	protein_coding	getma.org/?cm=var&var=hg19,19,9525062,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF117,Superfamily_domains:SSF57667		G/V		A	medium	1715/3503		getma.org/?cm=msa&ty=f&p=ZN266_HUMAN&rb=1&re=200&var=G180V	deleterious(0.04)	K7EQP7_HUMAN				ZNF266,missense_variant,p.Gly180Val,ENST00000592904,;ZNF266,missense_variant,p.Gly180Val,ENST00000361451,NM_006631.3;ZNF266,missense_variant,p.Gly180Val,ENST00000588221,;ZNF266,missense_variant,p.Gly180Val,ENST00000361151,;ZNF266,missense_variant,p.Gly180Val,ENST00000590306,;ZNF266,missense_variant,p.Gly180Val,ENST00000588933,NM_001271314.1;ZNF266,missense_variant,p.Gly180Val,ENST00000592292,;ZNF266,downstream_gene_variant,,ENST00000591213,;							MODERATE	539/1650	G180V	ZN266_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000468491		CCDS12213.1			1	
RPP25L	0	LGGM	GRCh37	9	34611202	34611202	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	3	.	.	ENST00000297613.4:c.92G>T	p.Arg31Leu	p.R31L	ENST00000297613	NM_148179.2	31	cGa/cTa	0	1	1	UPI000006FAD5	0	NA	ENST00000297613		ENSG00000164967	19909		27	1.245		HGNC	p.R31L		RPP25L		SNV							ENST00000297613	protein_coding	getma.org/?cm=var&var=hg19,9,34611202,C,A&fts=all		hmmpanther:PTHR13516,hmmpanther:PTHR13516:SF2,Pfam_domain:PF01918,Gene3D:3.30.110.20,Superfamily_domains:SSF82704		R/L		A	low	373/1092		getma.org/?cm=msa&ty=f&p=CI023_HUMAN&rb=26&re=90&var=R31L	deleterious(0)				YES	RPP25L,missense_variant,p.Arg31Leu,ENST00000297613,NM_148179.2;RPP25L,missense_variant,p.Arg31Leu,ENST00000378959,NM_148178.2;DCTN3,downstream_gene_variant,,ENST00000447983,;DCTN3,downstream_gene_variant,,ENST00000378913,;DCTN3,downstream_gene_variant,,ENST00000341694,NM_024348.3;DCTN3,downstream_gene_variant,,ENST00000259632,NM_007234.4,NM_001281426.1;DCTN3,downstream_gene_variant,,ENST00000378916,NM_001281425.1;DCTN3,downstream_gene_variant,,ENST00000477738,NM_001281427.1;DCTN3,downstream_gene_variant,,ENST00000421919,;DCTN3,downstream_gene_variant,,ENST00000479399,;DCTN3,downstream_gene_variant,,ENST00000472418,;DCTN3,downstream_gene_variant,,ENST00000472074,;DCTN3,downstream_gene_variant,,ENST00000481438,;							MODERATE	92/492	R31L	RP25L_HUMAN			Transcript		benign(0.165)	.	ENSP00000297613		CCDS6559.1			1	
FAM167B	0	LGGM	GRCh37	1	32713140	32713140	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	10	3	.	.	ENST00000373582.3:c.118C>A	p.Arg40=	p.R40=	ENST00000373582	NM_032648.2	40	Cgg/Agg	0	1	1	UPI0000203E2B	0		ENST00000373582		ENSG00000183615	28133		13			HGNC	p.R40R		FAM167B		SNV							ENST00000373582	protein_coding			hmmpanther:PTHR32289,hmmpanther:PTHR32289:SF4		R		A		307/936							YES	FAM167B,synonymous_variant,p.=,ENST00000373582,NM_032648.2;LCK,upstream_gene_variant,,ENST00000336890,NM_005356.3;LCK,upstream_gene_variant,,ENST00000495610,;LCK,upstream_gene_variant,,ENST00000482949,;LCK,upstream_gene_variant,,ENST00000469765,;LCK,upstream_gene_variant,,ENST00000355928,;LCK,upstream_gene_variant,,ENST00000476457,;							LOW	118/492		F167B_HUMAN			Transcript			.	ENSP00000362684		CCDS358.2			1	
FRY	0	LGGM	GRCh37	13	32811802	32811802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	30	3	.	.	ENST00000380250.3:c.6097C>A	p.His2033Asn	p.H2033N	ENST00000380250	NM_023037.2	2033	Cac/Aac	0	1	1	UPI000046FD40	0	NA	ENST00000380250		ENSG00000073910	20367		33	1.01		HGNC	p.H2033N		FRY		SNV							ENST00000380250	protein_coding	getma.org/?cm=var&var=hg19,13,32811802,C,A&fts=all		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29		H/N		A	low	6593/10735		getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=1907&re=2037&var=H2033N	tolerated(0.63)	Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,missense_variant,p.His2033Asn,ENST00000380250,NM_023037.2;							MODERATE	6097/9042	H2033N	FRY_HUMAN			Transcript		benign(0)	.	ENSP00000369600		CCDS41875.1			1	
SI	0	LGGM	GRCh37	3	164786911	164786911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	46	3	.	.	ENST00000264382.3:c.328G>T	p.Asp110Tyr	p.D110Y	ENST00000264382	NM_001041.3	110	Gat/Tat	0	1	1	UPI000022C287	0	getma.org/pdb.php?prot=SUIS_HUMAN&from=61&to=110&var=D110Y	ENST00000264382		ENSG00000090402	10856		49	2.38		HGNC	p.D110Y		SI		SNV			1				ENST00000264382	protein_coding	getma.org/?cm=var&var=hg19,3,164786911,C,A&fts=all		Superfamily_domains:SSF74650,SMART_domains:SM00018,Gene3D:4.10.110.10,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66,PROSITE_profiles:PS51448		D/Y		A	medium	391/6011		getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=61&re=110&var=D110Y	deleterious(0.02)				YES	SI,missense_variant,p.Asp110Tyr,ENST00000264382,NM_001041.3;SI,3_prime_UTR_variant,,ENST00000476593,;							MODERATE	328/5484	D110Y	SUIS_HUMAN			Transcript		benign(0.297)	.	ENSP00000264382		CCDS3196.1			1	
HYDIN	0	LGGM	GRCh37	16	70993572	70993572	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	3	.	.	ENST00000393567.2:c.6120C>A	p.Ile2040=	p.I2040=	ENST00000393567	NM_001270974.1	2040	atC/atA	0	1	1	UPI0001FEF4F9	0		ENST00000393567		ENSG00000157423	19368		38			HGNC	p.I2040I		HYDIN		SNV			1				ENST00000393567	protein_coding			Gene3D:3.40.50.300,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		I		T		6271/15719				K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,synonymous_variant,p.=,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000546297,;							LOW	6120/15366		HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
NUMA1	0	LGGM	GRCh37	11	71719790	71719790	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	37	3	.	.	ENST00000393695.3:c.5160G>T	p.Leu1720Phe	p.L1720F	ENST00000393695	NM_006185.2	1720	ttG/ttT	0	1	1	UPI000013DB8B	0	NA	ENST00000393695		ENSG00000137497	8059		40	0.695		HGNC	p.L1720F		NUMA1		SNV			1				ENST00000393695	protein_coding	getma.org/?cm=var&var=hg19,11,71719790,C,A&fts=all		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24,Low_complexity_(Seg):seg		L/F		A	neutral	5492/7343		getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=1686&re=2113&var=L1720F		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			YES	NUMA1,missense_variant,p.Leu1720Phe,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Leu1706Phe,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Leu584Phe,ENST00000351960,;NUMA1,missense_variant,p.Leu551Phe,ENST00000541584,;IL18BP,downstream_gene_variant,,ENST00000497194,;NUMA1,upstream_gene_variant,,ENST00000541262,;NUMA1,missense_variant,p.Leu310Phe,ENST00000545721,;NUMA1,non_coding_transcript_exon_variant,,ENST00000546036,;NUMA1,upstream_gene_variant,,ENST00000540626,;IL18BP,downstream_gene_variant,,ENST00000343898,NM_173044.2;NUMA1,downstream_gene_variant,,ENST00000540588,;							MODERATE	5160/6348	L1720F	NUMA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377298		CCDS31633.1			1	
COQ5	0	LGGM	GRCh37	12	120947842	120947842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	16	3	.	.	ENST00000288532.6:c.659G>T	p.Arg220Leu	p.R220L	ENST00000288532	NM_032314.3	220	cGg/cTg	0	1	1	UPI00001592AF	0	getma.org/pdb.php?prot=COQ5_HUMAN&from=57&to=326&var=R220L	ENST00000288532		ENSG00000110871	28722		19	4.365		HGNC	p.R170L		COQ5		SNV							ENST00000547943	protein_coding	getma.org/?cm=var&var=hg19,12,120947842,C,A&fts=all		PROSITE_profiles:PS51608,HAMAP:MF_01813,hmmpanther:PTHR10108:SF24,hmmpanther:PTHR10108,TIGRFAM_domain:TIGR01934,Gene3D:3.40.50.150,Pfam_domain:PF01209,Superfamily_domains:SSF53335		R/L		A	high	700/1535		getma.org/?cm=msa&ty=f&p=COQ5_HUMAN&rb=57&re=326&var=R220L	deleterious(0)	F8VVX6_HUMAN,F8VP53_HUMAN			YES	COQ5,missense_variant,p.Arg220Leu,ENST00000288532,NM_032314.3;COQ5,missense_variant,p.Arg146Leu,ENST00000445328,;COQ5,missense_variant,p.Arg139Leu,ENST00000552443,;COQ5,missense_variant,p.Arg170Leu,ENST00000547943,;COQ5,downstream_gene_variant,,ENST00000551769,;COQ5,non_coding_transcript_exon_variant,,ENST00000546838,;							MODERATE	659/984	R220L	COQ5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288532		CCDS31912.1			1	
MAST2	0	LGGM	GRCh37	1	46499840	46499840	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	38	3	.	.	ENST00000361297.2:c.3770C>A	p.Ser1257Ter	p.S1257*	ENST00000361297	NM_015112.2	1257	tCa/tAa	0	1	1	UPI0000458AEB	0	NA	ENST00000361297		ENSG00000086015	19035		41	0		HGNC	p.S1257X		MAST2		SNV							ENST00000361297	protein_coding	getma.org/?cm=var&var=hg19,1,46499840,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24356:SF136,hmmpanther:PTHR24356		S/*		A	NA	4053/5738		NA		Q9NT11_HUMAN			YES	MAST2,stop_gained,p.Ser1257Ter,ENST00000361297,NM_015112.2;MAST2,stop_gained,p.Ser1164Ter,ENST00000372009,;MAST2,downstream_gene_variant,,ENST00000372008,;MAST2,non_coding_transcript_exon_variant,,ENST00000492813,;MAST2,downstream_gene_variant,,ENST00000477968,;							HIGH	3770/5397	S1257*	MAST2_HUMAN			Transcript			.	ENSP00000354671		CCDS41326.1			1	
LPHN2	0	LGGM	GRCh37	1	82421574	82421574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	42	3	.	.	ENST00000319517.6:c.1796C>A	p.Thr599Lys	p.T599K	ENST00000319517	NM_012302.2	599	aCa/aAa	0	1		UPI0000458983	0	getma.org/pdb.php?prot=LPHN2_HUMAN&from=530&to=761&var=T612K	ENST00000370717		ENSG00000117114	18582		45	2.65		HGNC	p.T612K		LPHN2		SNV							ENST00000370717	protein_coding	getma.org/?cm=var&var=hg19,1,82421574,C,A&fts=all		hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF12003		T/K		A	medium	2051/5918		getma.org/?cm=msa&ty=f&p=LPHN2_HUMAN&rb=530&re=761&var=T612K	deleterious(0)	Q9UJ49_HUMAN				LPHN2,missense_variant,p.Thr612Lys,ENST00000370728,;LPHN2,missense_variant,p.Thr612Lys,ENST00000370730,;LPHN2,missense_variant,p.Thr612Lys,ENST00000370717,;LPHN2,missense_variant,p.Thr599Lys,ENST00000394879,;LPHN2,missense_variant,p.Thr612Lys,ENST00000271029,;LPHN2,missense_variant,p.Thr612Lys,ENST00000335786,;LPHN2,missense_variant,p.Thr599Lys,ENST00000370715,;LPHN2,missense_variant,p.Thr599Lys,ENST00000319517,NM_012302.2;LPHN2,missense_variant,p.Thr599Lys,ENST00000370713,;LPHN2,missense_variant,p.Thr612Lys,ENST00000370725,;LPHN2,missense_variant,p.Thr599Lys,ENST00000370723,;LPHN2,missense_variant,p.Thr612Lys,ENST00000370727,;LPHN2,missense_variant,p.Thr537Lys,ENST00000370721,;LPHN2,missense_variant,p.Thr599Lys,ENST00000359929,;LPHN2,missense_variant,p.Thr480Lys,ENST00000449420,;LPHN2,non_coding_transcript_exon_variant,,ENST00000468283,;LPHN2,intron_variant,,ENST00000469377,;							MODERATE	1835/4425	T612K	LPHN2_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000359752					1	
ZNF513	0	LGGM	GRCh37	2	27601240	27601240	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	10	4	.	.	ENST00000323703.6:c.800-2A>T		p.X267_splice	ENST00000323703	NM_144631.5			0	1	1	UPI00000437BA	0		ENST00000323703		ENSG00000163795	26498		14			HGNC	-		ZNF513		SNV			1				ENST00000323703	protein_coding							A		-/2139				C9JT52_HUMAN			YES	ZNF513,splice_acceptor_variant,,ENST00000323703,NM_144631.5;ZNF513,splice_acceptor_variant,,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,intron_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,,ENST00000493711,;SNX17,downstream_gene_variant,,ENST00000464279,;							HIGH	800/1626		ZN513_HUMAN			Transcript			.	ENSP00000318373		CCDS1751.1			1	
ZNF655	0	LGGM	GRCh37	7	99171007	99171007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	93	4	.	.	ENST00000424881.1:c.1381C>A	p.His461Asn	p.H461N	ENST00000424881	NM_001085368.1	461	Cat/Aat	0	1		UPI0000070B32	0	getma.org/pdb.php?prot=ZN655_HUMAN&from=420&to=491&var=H426N	ENST00000252713		ENSG00000197343	30899		97	2.445		HGNC	p.H426N		ZNF655		SNV							ENST00000394163	protein_coding	getma.org/?cm=var&var=hg19,7,99171007,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF284,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/N		A	medium	1513/2535		getma.org/?cm=msa&ty=f&p=ZN655_HUMAN&rb=420&re=491&var=H426N	deleterious(0)	Q68DU4_HUMAN				ZNF655,missense_variant,p.His461Asn,ENST00000424881,NM_001085368.1,NM_001083956.1;ZNF655,missense_variant,p.His426Asn,ENST00000394163,NM_001009960.1,NM_138494.2;ZNF655,missense_variant,p.His426Asn,ENST00000252713,;ZNF655,missense_variant,p.His461Asn,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,;							MODERATE	1276/1476	H426N	ZN655_HUMAN			Transcript		benign(0.282)	.	ENSP00000252713		CCDS5669.1			1	
SHISA3	0	LGGM	GRCh37	4	42403039	42403039	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	75	4	.	.	ENST00000319234.4:c.288C>A	p.Tyr96Ter	p.Y96*	ENST00000319234	NM_001080505.1	96	taC/taA	0	1	1	UPI000020BC30	0	NA	ENST00000319234		ENSG00000178343	25159		79	0		HGNC	p.Y96X		SHISA3		SNV							ENST00000319234	protein_coding	getma.org/?cm=var&var=hg19,4,42403039,C,A&fts=all		Pfam_domain:PF13908,hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF4,Transmembrane_helices:TMhelix		Y/*		A	NA	506/1971		NA					YES	SHISA3,stop_gained,p.Tyr96Ter,ENST00000319234,NM_001080505.1;							HIGH	288/717	Y96*	SHSA3_HUMAN			Transcript			.	ENSP00000326445		CCDS33979.1			1	
IFIT5	0	LGGM	GRCh37	10	91177094	91177094	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	81	4	.	.	ENST00000371795.4:c.138C>A	p.Thr46=	p.T46=	ENST00000371795	NM_012420.2	46	acC/acA	0	1	1	UPI000012D3E6	0		ENST00000371795		ENSG00000152778	13328		85			HGNC	p.T46T		IFIT5		SNV							ENST00000416601	protein_coding			Superfamily_domains:SSF48452,hmmpanther:PTHR10271:SF5,hmmpanther:PTHR10271		T		A		351/4015							YES	IFIT5,synonymous_variant,p.=,ENST00000371795,NM_012420.2;IFIT5,synonymous_variant,p.=,ENST00000416601,;LIPA,upstream_gene_variant,,ENST00000371837,;							LOW	138/1449		IFIT5_HUMAN			Transcript			.	ENSP00000360860		CCDS7403.1			1	
SF3B3	0	LGGM	GRCh37	16	70602265	70602265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	62	4	.	.	ENST00000302516.5:c.3032G>T	p.Trp1011Leu	p.W1011L	ENST00000302516	NM_012426.4	1011	tGg/tTg	0	1	1	UPI0000167878	0	getma.org/pdb.php?prot=SF3B3_HUMAN&from=863&to=1184&var=W1011L	ENST00000302516		ENSG00000189091	10770		66	0.345		HGNC	p.W1011L		SF3B3		SNV							ENST00000302516	protein_coding	getma.org/?cm=var&var=hg19,16,70602265,G,T&fts=all		Pfam_domain:PF03178,hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1,Superfamily_domains:SSF50978		W/L		T	neutral	3243/6969		getma.org/?cm=msa&ty=f&p=SF3B3_HUMAN&rb=863&re=1184&var=W1011L	deleterious(0.03)	J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN			YES	SF3B3,missense_variant,p.Trp1011Leu,ENST00000302516,NM_012426.4;SF3B3,downstream_gene_variant,,ENST00000563739,;SF3B3,upstream_gene_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000562722,;SF3B3,downstream_gene_variant,,ENST00000568539,;							MODERATE	3032/3654	W1011L	SF3B3_HUMAN			Transcript		benign(0.015)	.	ENSP00000305790		CCDS10894.1			1	
CD59	0	LGGM	GRCh37	11	33738946	33738946	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	6	4	.	.	ENST00000395850.3:c.139G>T	p.Asp47Tyr	p.D47Y	ENST00000395850	NM_001127227.1	47	Gat/Tat	0	1		UPI0000127386	0	getma.org/pdb.php?prot=CD59_HUMAN&from=28&to=95&var=D47Y	ENST00000351554		ENSG00000085063	1689		10	-0.255		HGNC	p.D47Y		CD59		SNV			1				ENST00000351554	protein_coding	getma.org/?cm=var&var=hg19,11,33738946,C,A&fts=all		Gene3D:2.10.60.10,Pfam_domain:PF00021,PROSITE_patterns:PS00983,hmmpanther:PTHR10036,hmmpanther:PTHR10036:SF6,SMART_domains:SM00134,Superfamily_domains:SSF57302		D/Y		A	neutral	266/1775		getma.org/?cm=msa&ty=f&p=CD59_HUMAN&rb=28&re=95&var=D47Y	deleterious(0.01)	Q6FHM9_HUMAN				CD59,missense_variant,p.Asp47Tyr,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.Asp47Tyr,ENST00000415002,NM_001127223.1;CD59,missense_variant,p.Asp47Tyr,ENST00000533403,;CD59,missense_variant,p.Asp47Tyr,ENST00000351554,;CD59,missense_variant,p.Asp47Tyr,ENST00000445143,;CD59,missense_variant,p.Asp47Tyr,ENST00000437761,;CD59,missense_variant,p.Asp47Tyr,ENST00000426650,;CD59,missense_variant,p.Asp47Tyr,ENST00000527577,;CD59,missense_variant,p.Asp47Tyr,ENST00000528700,;CD59,missense_variant,p.Asp47Tyr,ENST00000534312,;CD59,missense_variant,p.Asp47Tyr,ENST00000525763,;CD59,missense_variant,p.Asp47Tyr,ENST00000527926,;CD59,non_coding_transcript_exon_variant,,ENST00000528987,;							MODERATE	139/387	D47Y	CD59_HUMAN			Transcript		benign(0.194)	.	ENSP00000340210		CCDS7886.1			1	
TCTE1	0	LGGM	GRCh37	6	44249925	44249925	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	22	4	.	.	ENST00000371505.4:c.1218C>T	p.Thr406=	p.T406=	ENST00000371505	NM_182539.3	406	acC/acT	0	1	1	UPI0000160BC0	0		ENST00000371505		ENSG00000146221	11693		26			HGNC	p.T406T	rs766131893	TCTE1		SNV							ENST00000371505	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2,SMART_domains:SM00368,Superfamily_domains:SSF52047		T		A		1341/3067	1.50E-05						YES	TCTE1,synonymous_variant,p.=,ENST00000371505,NM_182539.3;TCTE1,intron_variant,,ENST00000371503,;TMEM151B,intron_variant,,ENST00000438774,;TCTE1,intron_variant,,ENST00000371504,;TMEM151B,downstream_gene_variant,,ENST00000451188,NM_001137560.1;RP11-444E17.6,intron_variant,,ENST00000505802,;							LOW	1218/1506		TCTE1_HUMAN			Transcript			.	ENSP00000360560	8.24E-06	CCDS4910.1			1	
DIP2A	0	LGGM	GRCh37	21	47931525	47931525	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	15	4	.	.	ENST00000417564.2:c.1100A>G	p.Tyr367Cys	p.Y367C	ENST00000417564		367	tAt/tGt	0	1	1	UPI00001B2E47	0	getma.org/pdb.php?prot=DIP2A_HUMAN&from=366&to=820&var=Y367C	ENST00000417564		ENSG00000160305	17217		19	3.145		HGNC	p.Y367C		DIP2A		SNV							ENST00000435722	protein_coding	getma.org/?cm=var&var=hg19,21,47931525,A,G&fts=all		Gene3D:3.40.50.980,Pfam_domain:PF00501,hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF24,Superfamily_domains:SSF56801		Y/C		G	medium	1121/6967		getma.org/?cm=msa&ty=f&p=DIP2A_HUMAN&rb=366&re=820&var=Y367C	deleterious(0.04)	Q9NSX6_HUMAN,Q96NX2_HUMAN			YES	DIP2A,missense_variant,p.Tyr368Cys,ENST00000318711,NM_001146116.1,NM_015151.3;DIP2A,missense_variant,p.Tyr363Cys,ENST00000400274,;DIP2A,missense_variant,p.Tyr367Cys,ENST00000417564,;DIP2A,missense_variant,p.Tyr303Cys,ENST00000427143,NM_001146114.1;DIP2A,missense_variant,p.Tyr367Cys,ENST00000457905,NM_206889.2;DIP2A,missense_variant,p.Tyr367Cys,ENST00000435722,NM_206890.2,NM_206891.2;DIP2A,missense_variant,p.Tyr324Cys,ENST00000466639,NM_001146115.1;DIP2A,splice_region_variant,,ENST00000473752,;DIP2A,splice_region_variant,,ENST00000494435,;							MODERATE	1100/4716	Y367C	DIP2A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000392066		CCDS46655.1			1	
MYH10	0	LGGM	GRCh37	17	8424297	8424297	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	13	4	.	.	ENST00000360416.3:c.2172C>A	p.His724Gln	p.H724Q	ENST00000360416	NM_001256012.1	724	caC/caA	0	1		UPI000020093B	0	getma.org/pdb.php?prot=MYH10_HUMAN&from=87&to=771&var=H693Q	ENST00000269243		ENSG00000133026	7568		17	0.735		HGNC	p.H693Q		MYH10		SNV							ENST00000269243	protein_coding	getma.org/?cm=var&var=hg19,17,8424297,G,T&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		H/Q		T	neutral	2218/7662		getma.org/?cm=msa&ty=f&p=MYH10_HUMAN&rb=87&re=771&var=H693Q		Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN				MYH10,missense_variant,p.His724Gln,ENST00000360416,NM_001256012.1;MYH10,missense_variant,p.His714Gln,ENST00000396239,;MYH10,missense_variant,p.His709Gln,ENST00000379980,NM_001256095.1;MYH10,missense_variant,p.His693Gln,ENST00000269243,NM_005964.3;MYH10,non_coding_transcript_exon_variant,,ENST00000469865,;							MODERATE	2079/5931	H693Q	MYH10_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000269243		CCDS11144.1			1	
FAM120B	0	LGGM	GRCh37	6	170657274	170657274	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	21	4	.	.	ENST00000476287.1:c.2053C>A	p.Gln685Lys	p.Q685K	ENST00000476287	NM_032448.1	685	Caa/Aaa	0	1	1	UPI000006DC13	0	NA	ENST00000476287		ENSG00000112584	21109		25	0.55		HGNC	p.Q697K		FAM120B		SNV							ENST00000540480	protein_coding	getma.org/?cm=var&var=hg19,6,170657274,C,A&fts=all		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7		Q/K		A	neutral	2161/5155		getma.org/?cm=msa&ty=f&p=F120B_HUMAN&rb=601&re=800&var=Q685K	tolerated(0.73)	B4DL34_HUMAN			YES	FAM120B,missense_variant,p.Gln685Lys,ENST00000476287,NM_032448.1,NM_001286380.1,NM_001286379.1;FAM120B,missense_variant,p.Gln697Lys,ENST00000540480,;FAM120B,missense_variant,p.Gln708Lys,ENST00000537664,;FAM120B,missense_variant,p.Gln17Lys,ENST00000252510,NM_001286381.1;							MODERATE	2053/2733	Q685K	F120B_HUMAN			Transcript		benign(0.006)	.	ENSP00000417970		CCDS5314.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	39	4	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	43			HGNC	p.P55P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000399808	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
UNC5A	0	LGGM	GRCh37	5	176305323	176305323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	56	5	.	.	ENST00000329542.4:c.1948C>A	p.His650Asn	p.H650N	ENST00000329542	NM_133369.2	650	Cac/Aac	0	1	1	UPI0000047F37	0	getma.org/pdb.php?prot=UNC5A_HUMAN&from=542&to=741&var=H650N	ENST00000329542		ENSG00000113763	12567		61	2.16		HGNC	p.H650N		UNC5A		SNV							ENST00000329542	protein_coding	getma.org/?cm=var&var=hg19,5,176305323,C,A&fts=all		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582		H/N		A	medium	2222/3812		getma.org/?cm=msa&ty=f&p=UNC5A_HUMAN&rb=542&re=741&var=H650N	deleterious(0.03)				YES	UNC5A,missense_variant,p.His650Asn,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.His610Asn,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,;							MODERATE	1948/2529	H650N	UNC5A_HUMAN			Transcript		possibly_damaging(0.674)	.	ENSP00000332737		CCDS34299.1			1	
DPP9	0	LGGM	GRCh37	19	4690955	4690955	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	17	5	.	.	ENST00000262960.9:c.1531C>T	p.Pro511Ser	p.P511S	ENST00000262960	NM_139159.4	511	Ccc/Tcc	0	1		UPI000000D85D	0	getma.org/pdb.php?prot=DPP9_HUMAN&from=146&to=570&var=P482S	ENST00000598800		ENSG00000142002	18648		22	0.895		HGNC	p.P511S		DPP9		SNV			1				ENST00000262960	protein_coding	getma.org/?cm=var&var=hg19,19,4690955,G,A&fts=all		Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF109,Superfamily_domains:SSF82171		P/S		A	low	1950/3098		getma.org/?cm=msa&ty=f&p=DPP9_HUMAN&rb=146&re=570&var=P482S	tolerated(0.27)	M0R3E8_HUMAN,M0QXN4_HUMAN				DPP9,missense_variant,p.Pro511Ser,ENST00000262960,NM_139159.4;DPP9,missense_variant,p.Pro482Ser,ENST00000594671,;DPP9,missense_variant,p.Pro482Ser,ENST00000598800,;DPP9,downstream_gene_variant,,ENST00000597849,;DPP9,upstream_gene_variant,,ENST00000601720,;DPP9,upstream_gene_variant,,ENST00000595327,;AC005594.3,downstream_gene_variant,,ENST00000381796,;DPP9,3_prime_UTR_variant,,ENST00000599163,;DPP9,non_coding_transcript_exon_variant,,ENST00000597145,;DPP9,non_coding_transcript_exon_variant,,ENST00000597253,;DPP9,non_coding_transcript_exon_variant,,ENST00000599998,;DPP9,downstream_gene_variant,,ENST00000601764,;							MODERATE	1444/2592	P482S	DPP9_HUMAN			Transcript		benign(0.035)	.	ENSP00000469603					1	
TRAPPC12	0	LGGM	GRCh37	2	3392256	3392256	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	16	6	.	.	ENST00000324266.5:c.862G>T	p.Ala288Ser	p.A288S	ENST00000324266	NM_016030.5	288	Gca/Tca	0	1	1	UPI000014132D	0	NA	ENST00000324266		ENSG00000171853	24284		22	1.4		HGNC	p.A288S		TRAPPC12		SNV							ENST00000324266	protein_coding	getma.org/?cm=var&var=hg19,2,3392256,G,T&fts=all		hmmpanther:PTHR21581:SF1,hmmpanther:PTHR21581		A/S		T	low	1057/2508		getma.org/?cm=msa&ty=f&p=TPC12_HUMAN&rb=201&re=400&var=A288S	tolerated(0.49)	Q53S18_HUMAN,Q53QD4_HUMAN			YES	TRAPPC12,missense_variant,p.Ala288Ser,ENST00000324266,NM_016030.5;TRAPPC12,missense_variant,p.Ala288Ser,ENST00000382110,;TRAPPC12,upstream_gene_variant,,ENST00000441983,;TRAPPC12,missense_variant,p.Ala121Ser,ENST00000411973,;TRAPPC12,non_coding_transcript_exon_variant,,ENST00000482645,;TRAPPC12,upstream_gene_variant,,ENST00000457845,;							MODERATE	862/2208	A288S	TPC12_HUMAN			Transcript		benign(0.284)	.	ENSP00000324318		CCDS1652.1			1	
LGALS3	0	LGGM	GRCh37	14	55604851	55604851	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	15	6	.	.	ENST00000254301.9:c.107A>T	p.Tyr36Phe	p.Y36F	ENST00000254301	NM_002306.3	36	tAc/tTc	0	1	1	UPI000004E613	0	NA	ENST00000254301		ENSG00000131981	6563		21	2.055		HGNC	p.Y36F		LGALS3		SNV							ENST00000554715	protein_coding	getma.org/?cm=var&var=hg19,14,55604851,A,T&fts=all		hmmpanther:PTHR11346,Low_complexity_(Seg):seg		Y/F		T	medium	368/1146		getma.org/?cm=msa&ty=f&p=LEG3_HUMAN&rb=5&re=83&var=Y36F	tolerated(0.44)	Q8IXB9_HUMAN,Q86TY5_HUMAN,G3V407_HUMAN			YES	LGALS3,missense_variant,p.Tyr36Phe,ENST00000254301,NM_002306.3;LGALS3,missense_variant,p.Tyr36Phe,ENST00000554715,;LGALS3,missense_variant,p.Tyr36Phe,ENST00000553493,;LGALS3,non_coding_transcript_exon_variant,,ENST00000553755,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556322,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556263,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556438,;							MODERATE	107/753	Y36F	LEG3_HUMAN			Transcript		unknown(0)	.	ENSP00000254301		CCDS41956.1			1	
ALDH1A3	0	LGGM	GRCh37	15	101440903	101440903	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	6	6	.	.	ENST00000329841.5:c.1007A>G	p.Glu336Gly	p.E336G	ENST00000329841	NM_000693.2	336	gAg/gGg	0	1	1	UPI00001AFAF8	0	getma.org/pdb.php?prot=AL1A3_HUMAN&from=40&to=503&var=E336G	ENST00000329841		ENSG00000184254	409		12	2.665		HGNC	p.E336G		ALDH1A3		SNV			1				ENST00000329841	protein_coding	getma.org/?cm=var&var=hg19,15,101440903,A,G&fts=all		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF154,Gene3D:3.40.309.10,Pfam_domain:PF00171,Superfamily_domains:SSF53720		E/G		G	medium	1539/3924		getma.org/?cm=msa&ty=f&p=AL1A3_HUMAN&rb=40&re=503&var=E336G	deleterious(0.01)				YES	ALDH1A3,missense_variant,p.Glu336Gly,ENST00000329841,NM_000693.2;ALDH1A3,missense_variant,p.Glu229Gly,ENST00000346623,;RP11-66B24.4,intron_variant,,ENST00000560351,;ALDH1A3,non_coding_transcript_exon_variant,,ENST00000558869,;ALDH1A3,downstream_gene_variant,,ENST00000558033,;							MODERATE	1007/1539	E336G	AL1A3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000332256		CCDS10389.1			1	
VAC14	0	LGGM	GRCh37	16	70814711	70814711	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	9	6	.	.	ENST00000261776.5:c.1078C>T	p.Gln360Ter	p.Q360*	ENST00000261776	NM_018052.3	360	Cag/Tag	0	1	1	UPI00001A832B	0	NA	ENST00000261776		ENSG00000103043	25507		15	0		HGNC	p.Q360X		VAC14		SNV							ENST00000261776	protein_coding	getma.org/?cm=var&var=hg19,16,70814711,G,A&fts=all		hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023		Q/*		A	NA	1339/3099		NA		Q9NTB8_HUMAN,B3KSM8_HUMAN			YES	VAC14,stop_gained,p.Gln360Ter,ENST00000261776,NM_018052.3;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,non_coding_transcript_exon_variant,,ENST00000566655,;VAC14,intron_variant,,ENST00000568886,;							HIGH	1078/2349	Q360*	VAC14_HUMAN			Transcript			.	ENSP00000261776		CCDS10896.1			1	
VAC14	0	LGGM	GRCh37	16	70814712	70814712	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	9	6	.	.	ENST00000261776.5:c.1077G>A	p.Lys359=	p.K359=	ENST00000261776	NM_018052.3	359	aaG/aaA	0	1	1	UPI00001A832B	0		ENST00000261776		ENSG00000103043	25507		15			HGNC	p.K359K		VAC14		SNV							ENST00000261776	protein_coding			hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023		K		T		1338/3099				Q9NTB8_HUMAN,B3KSM8_HUMAN			YES	VAC14,synonymous_variant,p.=,ENST00000261776,NM_018052.3;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,non_coding_transcript_exon_variant,,ENST00000566655,;VAC14,intron_variant,,ENST00000568886,;							LOW	1077/2349		VAC14_HUMAN			Transcript			.	ENSP00000261776		CCDS10896.1			1	
AFAP1L2	0	LGGM	GRCh37	10	116057157	116057157	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	8	7	.	.	ENST00000304129.4:c.2129C>T	p.Ala710Val	p.A710V	ENST00000304129	NM_001287824.1	710	gCg/gTg	0	1	1	UPI0000071FAF	0	NA	ENST00000304129		ENSG00000169129	25901	9.09E-05	15	0.92		HGNC	p.A710V	rs752318393,COSM4011780,COSM4011781	AFAP1L2	6.59E-05	SNV				0.000103		0,1,1	ENST00000369271	protein_coding	getma.org/?cm=var&var=hg19,10,116057157,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338		A/V		A	low	2159/3705	7.94E-05	getma.org/?cm=msa&ty=f&p=AF1L2_HUMAN&rb=645&re=818&var=A710V	tolerated(0.25)				YES	AFAP1L2,missense_variant,p.Ala710Val,ENST00000369271,NM_032550.2,NM_001001936.1;AFAP1L2,missense_variant,p.Ala710Val,ENST00000304129,NM_001287824.1;AFAP1L2,missense_variant,p.Ala763Val,ENST00000545353,;AFAP1L2,non_coding_transcript_exon_variant,,ENST00000491814,;AFAP1L2,downstream_gene_variant,,ENST00000486300,;					0,1,1		MODERATE	2129/2457	A710V	AF1L2_HUMAN			Transcript		benign(0.004)	.	ENSP00000303042	6.59E-05	CCDS31286.1			1	
CASP8	0	LGGM	GRCh37	2	202134275	202134275	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	10	7	.	.	ENST00000358485.4:c.483-1964G>T		*161*	ENST00000358485	NM_001080125.1			0	1		UPI000003AEFE	0		ENST00000432109		ENSG00000064012	1509		17			HGNC	p.Q116H		CASP8		SNV			1				ENST00000264275	protein_coding							T		-/1629				E7EVN1_HUMAN,E7ETB7_HUMAN,E7EQ01_HUMAN				CASP8,missense_variant,p.Gln116His,ENST00000264275,NM_001228.4;CASP8,intron_variant,,ENST00000358485,NM_001080125.1;CASP8,intron_variant,,ENST00000392259,;CASP8,intron_variant,,ENST00000392266,;CASP8,intron_variant,,ENST00000323492,NM_033356.3;CASP8,intron_variant,,ENST00000264274,;CASP8,intron_variant,,ENST00000432109,NM_033355.3;CASP8,intron_variant,,ENST00000392263,NM_001080124.1;CASP8,intron_variant,,ENST00000392258,NM_033358.3;CASP8,intron_variant,,ENST00000429881,;CASP8,intron_variant,,ENST00000447616,;CASP8,intron_variant,,ENST00000450491,;CASP8,intron_variant,,ENST00000413726,;CASP8,intron_variant,,ENST00000440732,;CASP8,upstream_gene_variant,,ENST00000444430,;CASP8,upstream_gene_variant,,ENST00000424461,;CASP8,intron_variant,,ENST00000490412,;CASP8,intron_variant,,ENST00000339403,;CASP8,intron_variant,,ENST00000471383,;CASP8,intron_variant,,ENST00000437283,;							MODIFIER	-/1440		CASP8_HUMAN			Transcript			.	ENSP00000412523		CCDS2342.1			1	
LRP1	0	LGGM	GRCh37	12	57581061	57581061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	11	8	.	.	ENST00000243077.3:c.6853G>A	p.Val2285Met	p.V2285M	ENST00000243077	NM_002332.2	2285	Gtg/Atg	0	1	1	UPI00001B044F	0	NA	ENST00000243077		ENSG00000123384	6692		19	2.205		HGNC	p.V2285M		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57581061,G,A&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00135,Superfamily_domains:SSF63825		V/M		A	medium	7319/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=2262&re=2343&var=V2285M		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Val2285Met,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000554118,;							MODERATE	6853/13635	V2285M	LRP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000243077		CCDS8932.1			1	
NAPA	0	LGGM	GRCh37	19	48006684	48006684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	28	8	.	.	ENST00000263354.3:c.174G>T	p.Trp58Cys	p.W58C	ENST00000263354	NM_003827.3	58	tgG/tgT	0	1	1	UPI00000012C7	0	getma.org/pdb.php?prot=SNAA_HUMAN&from=1&to=200&var=W58C	ENST00000263354		ENSG00000105402	7641		36	3.685		HGNC	p.W58C		NAPA		SNV							ENST00000263354	protein_coding	getma.org/?cm=var&var=hg19,19,48006684,C,A&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF14938,hmmpanther:PTHR13768,hmmpanther:PTHR13768:SF11,Superfamily_domains:SSF48452		W/C		A	high	474/1839		getma.org/?cm=msa&ty=f&p=SNAA_HUMAN&rb=1&re=200&var=W58C	deleterious(0.01)	M0R213_HUMAN,M0R058_HUMAN,M0R027_HUMAN			YES	NAPA,missense_variant,p.Trp58Cys,ENST00000263354,NM_003827.3;NAPA,missense_variant,p.Trp58Cys,ENST00000595227,;NAPA,missense_variant,p.Trp58Cys,ENST00000593761,;NAPA,missense_variant,p.Trp8Cys,ENST00000597118,;NAPA,intron_variant,,ENST00000598615,;NAPA,upstream_gene_variant,,ENST00000594155,;NAPA-AS1,downstream_gene_variant,,ENST00000594367,;NAPA,non_coding_transcript_exon_variant,,ENST00000593785,;NAPA,non_coding_transcript_exon_variant,,ENST00000595826,;NAPA,intron_variant,,ENST00000597160,;NAPA,3_prime_UTR_variant,,ENST00000601208,;NAPA,non_coding_transcript_exon_variant,,ENST00000594740,;NAPA,non_coding_transcript_exon_variant,,ENST00000594288,;NAPA,intron_variant,,ENST00000594001,;NAPA,intron_variant,,ENST00000602082,;NAPA,intron_variant,,ENST00000602174,;NAPA,intron_variant,,ENST00000597274,;							MODERATE	174/888	W58C	SNAA_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000263354		CCDS12702.1			1	
PCDHA2	0	LGGM	GRCh37	5	140176053	140176053	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	36	8	.	.	ENST00000526136.1:c.1504C>T	p.Arg502Cys	p.R502C	ENST00000526136	NM_018905.2	502	Cgc/Tgc	0	1	1	UPI00001273C9	0	getma.org/pdb.php?prot=PCDA2_HUMAN&from=460&to=556&var=R502C	ENST00000526136		ENSG00000204969	8668		44	2.14		HGNC	p.R502C	rs551711072	PCDHA2		SNV				0.000196			ENST00000378132	protein_coding	getma.org/?cm=var&var=hg19,5,140176053,C,T&fts=all	T:0.0008	Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/C		T	medium	1504/5254		getma.org/?cm=msa&ty=f&p=PCDA2_HUMAN&rb=460&re=556&var=R502C	deleterious_low_confidence(0)		T:0	T:0	YES	PCDHA2,missense_variant,p.Arg502Cys,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Arg502Cys,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Arg502Cys,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;		T:0.0002					MODERATE	1504/2847	R502C	PCDA2_HUMAN		T:0	Transcript		benign(0.367)	.	ENSP00000431748	1.65E-05	CCDS54914.1		T:0	1	
EXOSC4	0	LGGM	GRCh37	8	145134844	145134844	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	44	9	.	.	ENST00000316052.5:c.172-2A>G		p.X58_splice	ENST00000316052	NM_019037.2			0	1	1	UPI0000000C49	0		ENST00000316052		ENSG00000178896	18189		53			HGNC	p.Q80R		EXOSC4		SNV							ENST00000527954	protein_coding							G		-/887							YES	EXOSC4,splice_acceptor_variant,,ENST00000316052,NM_019037.2;EXOSC4,splice_acceptor_variant,,ENST00000525936,;EXOSC4,missense_variant,p.Gln80Arg,ENST00000527954,;GPAA1,upstream_gene_variant,,ENST00000355091,NM_003801.3;GPAA1,upstream_gene_variant,,ENST00000361036,;GPAA1,upstream_gene_variant,,ENST00000525087,;GPAA1,upstream_gene_variant,,ENST00000524418,;GPAA1,upstream_gene_variant,,ENST00000530258,;CTD-3065J16.9,upstream_gene_variant,,ENST00000524499,;GPAA1,upstream_gene_variant,,ENST00000527144,;GPAA1,upstream_gene_variant,,ENST00000526341,;GPAA1,upstream_gene_variant,,ENST00000526233,;GPAA1,upstream_gene_variant,,ENST00000529638,;GPAA1,upstream_gene_variant,,ENST00000534072,;GPAA1,upstream_gene_variant,,ENST00000532758,;GPAA1,upstream_gene_variant,,ENST00000528073,;GPAA1,upstream_gene_variant,,ENST00000530796,;GPAA1,upstream_gene_variant,,ENST00000525308,;GPAA1,upstream_gene_variant,,ENST00000529503,;GPAA1,upstream_gene_variant,,ENST00000527653,;GPAA1,upstream_gene_variant,,ENST00000530633,;GPAA1,upstream_gene_variant,,ENST00000531593,;							HIGH	172/738		EXOS4_HUMAN			Transcript			.	ENSP00000315476		CCDS6414.1			1	
IFIH1	0	LGGM	GRCh37	2	163124727	163124727	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	27	9	.	.	ENST00000263642.2:c.2677G>T	p.Ala893Ser	p.A893S	ENST00000263642	NM_022168.3	893	Gcc/Tcc	0	1	1	UPI000013D436	0	NA	ENST00000263642		ENSG00000115267	18873		36	1.87		HGNC	p.A893S		IFIH1		SNV			1				ENST00000263642	protein_coding	getma.org/?cm=var&var=hg19,2,163124727,C,A&fts=all		hmmpanther:PTHR14074:SF14,hmmpanther:PTHR14074		A/S		A	low	3073/3595		getma.org/?cm=msa&ty=f&p=IFIH1_HUMAN&rb=827&re=900&var=A893S	tolerated(0.52)	Q53TP4_HUMAN,Q53TB6_HUMAN			YES	IFIH1,missense_variant,p.Ala893Ser,ENST00000263642,NM_022168.3;							MODERATE	2677/3078	A893S	IFIH1_HUMAN			Transcript		benign(0.006)	.	ENSP00000263642		CCDS2217.1			1	
ANKRD52	0	LGGM	GRCh37	12	56638451	56638451	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	14	9	.	.	ENST00000267116.7:c.2707del	p.Gln903ArgfsTer41	p.Q903Rfs*41	ENST00000267116	NM_173595.3	903	Cag/ag	0	1	1	UPI0000237861	0		ENST00000267116		ENSG00000139645	26614		23			HGNC	p.Q903fs		ANKRD52		deletion							ENST00000267116	protein_coding			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		Q/X		-		2829/8688							YES	ANKRD52,frameshift_variant,p.Gln903ArgfsTer41,ENST00000267116,NM_173595.3;ANKRD52,non_coding_transcript_exon_variant,,ENST00000548241,;							HIGH	2707/3231		ANR52_HUMAN			Transcript			.	ENSP00000267116		CCDS44920.1			1	
ZNF688	0	LGGM	GRCh37	16	30581759	30581759	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	20	10	.	.	ENST00000223459.6:c.311-2A>G		p.X104_splice	ENST00000223459	NM_145271.3			0	1	1	UPI0000071FFC	0		ENST00000223459		ENSG00000229809	30489		30			HGNC	-		ZNF688		SNV							ENST00000223459	protein_coding							C		-/2506							YES	ZNF688,splice_acceptor_variant,,ENST00000223459,NM_145271.3;ZNF688,splice_acceptor_variant,,ENST00000563276,;ZNF688,splice_acceptor_variant,,ENST00000395219,NM_001024683.1;ZNF688,splice_acceptor_variant,,ENST00000566632,;ZNF688,downstream_gene_variant,,ENST00000567855,;ZNF688,downstream_gene_variant,,ENST00000563707,;AC002310.7,upstream_gene_variant,,ENST00000492040,;AC002310.7,upstream_gene_variant,,ENST00000486926,;ZNF688,splice_acceptor_variant,,ENST00000563665,;ZNF688,splice_acceptor_variant,,ENST00000562455,;ZNF785,downstream_gene_variant,,ENST00000562128,;							HIGH	311/831		ZN688_HUMAN			Transcript			.	ENSP00000223459		CCDS10684.1			1	
RPS4XP21	0	LGGM	GRCh37	19	34583720	34583720	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	31	10	.	.	ENST00000469064.2:n.496G>A		*166*	ENST00000469064				0	1	1		0		ENST00000469064		ENSG00000186008	36228		41			HGNC	p.G177S		RPS4XP21		SNV							ENST00000469064	processed_pseudogene							T		496/771							YES	RPS4XP21,non_coding_transcript_exon_variant,,ENST00000469064,;RPS4XP21,non_coding_transcript_exon_variant,,ENST00000603814,;							MODIFIER						Transcript			.						1	
CTPS1	0	LGGM	GRCh37	1	41453104	41453104	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	1	10	.	.	ENST00000372621.4:c.398T>C	p.Val133Ala	p.V133A	ENST00000372621	NM_001905.2	133	gTa/gCa	0	1		UPI0000132D63	0	getma.org/pdb.php?prot=PYRG1_HUMAN&from=1&to=285&var=V133A	ENST00000372616		ENSG00000171793	2519		11	3.15		HGNC	p.V140A		CTPS1		SNV			1				ENST00000543104	protein_coding	getma.org/?cm=var&var=hg19,1,41453104,T,C&fts=all		HAMAP:MF_01227,hmmpanther:PTHR11550,hmmpanther:PTHR11550:SF3,Pfam_domain:PF06418,TIGRFAM_domain:TIGR00337,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		V/A		C	medium	528/2037		getma.org/?cm=msa&ty=f&p=PYRG1_HUMAN&rb=1&re=285&var=V133A	deleterious(0.01)	B4E1E0_HUMAN,B4DR64_HUMAN				CTPS1,missense_variant,p.Val133Ala,ENST00000372621,NM_001905.2;CTPS1,missense_variant,p.Val133Ala,ENST00000372616,;CTPS1,missense_variant,p.Val140Ala,ENST00000543104,;CTPS1,intron_variant,,ENST00000541520,;CTPS1,non_coding_transcript_exon_variant,,ENST00000479480,;CTPS1,downstream_gene_variant,,ENST00000475060,;CTPS1,downstream_gene_variant,,ENST00000470271,;CTPS1,upstream_gene_variant,,ENST00000480420,;							MODERATE	398/1776	V133A	PYRG1_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000361699		CCDS459.1			1	
FGF14	0	LGGM	GRCh37	13	102568885	102568885	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	32	10	.	.	ENST00000376131.4:c.209-41239C>T		*70*	ENST00000376131	NM_175929.2			0	1		UPI000003C0F2	0		ENST00000376143		ENSG00000102466	3671		42			HGNC	p.R37R	rs770096209	FGF14		SNV			1				ENST00000376143	protein_coding			hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF18		R		A		111/744	3.11E-05							FGF14,synonymous_variant,p.=,ENST00000376143,NM_004115.3;FGF14,intron_variant,,ENST00000376131,NM_175929.2;							LOW	111/744		FGF14_HUMAN			Transcript			.	ENSP00000365313	1.65E-05	CCDS9501.1			1	
F12	0	LGGM	GRCh37	5	176836526	176836526	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	12	10	.	.	ENST00000253496.3:c.3G>T	p.Met1?	p.M1?	ENST00000253496	NM_000505.3	1	atG/atT	0	1	1	UPI000048055F	0	NA	ENST00000253496		ENSG00000131187	3530		22	0		HGNC	p.M1I		F12		SNV			1				ENST00000253496	protein_coding	getma.org/?cm=var&var=hg19,5,176836526,C,A&fts=all		PIRSF_domain:PIRSF001146,Cleavage_site_(Signalp):SignalP-noTM		M/I		A	NA	52/2049		http://getma.org/?cm=msa&ty=f&p=FA12_HUMAN&rb=1&re=46&var=M1I	deleterious_low_confidence(0)	Q96EF3_HUMAN			YES	F12,start_lost,p.Met1?,ENST00000253496,NM_000505.3;GRK6,intron_variant,,ENST00000506296,;GRK6,intron_variant,,ENST00000502598,;F12,upstream_gene_variant,,ENST00000503736,;							HIGH	3/1848	M1I	FA12_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000253496		CCDS34302.1			1	
FGF9	0	LGGM	GRCh37	13	22255280	22255280	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	16	11	.	.	ENST00000382353.5:c.377G>T	p.Gly126Val	p.G126V	ENST00000382353	NM_002010.2	126	gGa/gTa	0	1	1	UPI00000374AF	0	getma.org/pdb.php?prot=FGF9_HUMAN&from=62&to=188&var=G126V	ENST00000382353		ENSG00000102678	3687		27	3.745		HGNC	p.G126V		FGF9		SNV			1				ENST00000382353	protein_coding	getma.org/?cm=var&var=hg19,13,22255280,G,T&fts=all		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF28,PROSITE_patterns:PS00247,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00263,Prints_domain:PR00262		G/V		T	high	907/4220		getma.org/?cm=msa&ty=f&p=FGF9_HUMAN&rb=62&re=188&var=G126V	deleterious(0)				YES	FGF9,missense_variant,p.Gly126Val,ENST00000382353,NM_002010.2;FGF9,non_coding_transcript_exon_variant,,ENST00000478546,;FGF9,non_coding_transcript_exon_variant,,ENST00000461657,;							MODERATE	377/627	G126V	FGF9_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000371790		CCDS9298.1			1	
ACTBL2	0	LGGM	GRCh37	5	56778416	56778416	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	12	11	.	.	ENST00000423391.1:c.119G>A	p.Arg40Gln	p.R40Q	ENST00000423391	NM_001017992.3	40	cGa/cAa	0	1	1	UPI000013EB83	0	getma.org/pdb.php?prot=ACTBL_HUMAN&from=3&to=376&var=R40Q	ENST00000423391		ENSG00000169067	17780		23	3.025		HGNC	p.R40Q		ACTBL2		SNV							ENST00000423391	protein_coding	getma.org/?cm=var&var=hg19,5,56778416,C,T&fts=all		hmmpanther:PTHR11937:SF168,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		R/Q		T	medium	221/2791		getma.org/?cm=msa&ty=f&p=ACTBL_HUMAN&rb=3&re=376&var=R40Q	tolerated_low_confidence(0.06)				YES	ACTBL2,missense_variant,p.Arg40Gln,ENST00000423391,NM_001017992.3;AC025470.1,upstream_gene_variant,,ENST00000584598,;CTD-2023N9.1,intron_variant,,ENST00000506106,;							MODERATE	119/1131	R40Q	ACTBL_HUMAN			Transcript		benign(0.408)	.	ENSP00000416706		CCDS34163.1			1	
KIAA0947	0	LGGM	GRCh37	5	5457837	5457837	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	260	12	.	.	ENST00000296564.7:c.1084C>T	p.Pro362Ser	p.P362S	ENST00000296564	NM_015325.2	362	Ccg/Tcg	0	1	1	UPI00015542F9	0	NA	ENST00000296564		ENSG00000164151	29154		272	0.55		HGNC	p.P362S		KIAA0947		SNV							ENST00000296564	protein_coding	getma.org/?cm=var&var=hg19,5,5457837,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3		P/S		T	neutral	1306/7927		getma.org/?cm=msa&ty=f&p=K0947_HUMAN&rb=1&re=1579&var=P362S	tolerated(0.22)				YES	KIAA0947,missense_variant,p.Pro362Ser,ENST00000296564,NM_015325.2;KIAA0947,downstream_gene_variant,,ENST00000512608,;							MODERATE	1084/6801	P362S	K0947_HUMAN			Transcript		benign(0.144)	.	ENSP00000296564		CCDS47187.1			1	
CCAR2	0	LGGM	GRCh37	8	22471724	22471724	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	22	13	.	.	ENST00000308511.4:c.824T>G	p.Leu275Arg	p.L275R	ENST00000308511		275	cTc/cGc	0	1	1	UPI0000070A46	0	NA	ENST00000308511		ENSG00000158941	23360		35	1.495		HGNC	p.L93R		CCAR2		SNV							ENST00000522599	protein_coding	getma.org/?cm=var&var=hg19,8,22471724,T,G&fts=all		hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF12		L/R		G	low	1073/4853		getma.org/?cm=msa&ty=f&p=K1967_HUMAN&rb=113&re=312&var=L275R	deleterious(0)	E5RGU7_HUMAN,E5RFJ3_HUMAN,E2PSM9_HUMAN			YES	CCAR2,missense_variant,p.Leu275Arg,ENST00000308511,;CCAR2,missense_variant,p.Leu275Arg,ENST00000389279,NM_021174.5;CCAR2,missense_variant,p.Leu93Arg,ENST00000522599,;CCAR2,5_prime_UTR_variant,,ENST00000520861,;CCAR2,upstream_gene_variant,,ENST00000520738,;RP11-582J16.5,non_coding_transcript_exon_variant,,ENST00000521025,;CCAR2,non_coding_transcript_exon_variant,,ENST00000521020,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,upstream_gene_variant,,ENST00000521436,;							MODERATE	824/2772	L275R	CCAR2_HUMAN			Transcript		possibly_damaging(0.741)	.	ENSP00000310670		CCDS34863.1			1	
FIGN	0	LGGM	GRCh37	2	164466756	164466756	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	19	13	.	.	ENST00000333129.3:c.1586G>A	p.Gly529Glu	p.G529E	ENST00000333129	NM_018086.2	529	gGg/gAg	0	1	1	UPI000022BD13	0	getma.org/pdb.php?prot=FIGN_HUMAN&from=522&to=652&var=G529E	ENST00000333129		ENSG00000182263	13285		32	3.965		HGNC	p.G529E		FIGN		SNV							ENST00000333129	protein_coding	getma.org/?cm=var&var=hg19,2,164466756,C,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23074:SF14,hmmpanther:PTHR23074		G/E		T	high	1901/9536		getma.org/?cm=msa&ty=f&p=FIGN_HUMAN&rb=522&re=652&var=G529E	deleterious(0)				YES	FIGN,missense_variant,p.Gly529Glu,ENST00000333129,NM_018086.2;FIGN,intron_variant,,ENST00000409634,;FIGN,downstream_gene_variant,,ENST00000482917,;							MODERATE	1586/2280	G529E	FIGN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333836		CCDS2221.2			1	
SDK1	0	LGGM	GRCh37	7	4091336	4091336	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	45	13	.	.	ENST00000404826.2:c.2785G>A	p.Gly929Arg	p.G929R	ENST00000404826	NM_152744.3	929	Gga/Aga	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=871&to=960&var=G929R	ENST00000404826		ENSG00000146555	19307		58	1.895		HGNC	p.G929R	rs375358605	SDK1		SNV	A:0						ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,4091336,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/R	A:0.0001	A	low	2924/10397	1.50E-05	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=871&re=960&var=G929R	deleterious(0)				YES	SDK1,missense_variant,p.Gly929Arg,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Gly929Arg,ENST00000389531,;							MODERATE	2785/6642	G929R	SDK1_HUMAN			Transcript		benign(0.168)	.	ENSP00000385899	8.24E-06	CCDS34590.1			1	
MYADM	0	LGGM	GRCh37	19	54377683	54377683	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	13	.	.	ENST00000391769.2:c.900G>T	p.Thr300=	p.T300=	ENST00000391769	NM_001020821.1	300	acG/acT	0	1		UPI0000001BEF	0		ENST00000336967		ENSG00000179820	7544		37			HGNC	p.T300T		MYADM		SNV							ENST00000391771	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR17068:SF3,hmmpanther:PTHR17068,Pfam_domain:PF01284		T		T		1048/3047				C9JZL8_HUMAN,C9JJV6_HUMAN,C9JC07_HUMAN,C9J5M0_HUMAN				MYADM,synonymous_variant,p.=,ENST00000391769,NM_001020821.1;MYADM,synonymous_variant,p.=,ENST00000391771,NM_001020819.1,NM_001020818.1;MYADM,synonymous_variant,p.=,ENST00000391770,NM_138373.3;MYADM,synonymous_variant,p.=,ENST00000336967,NM_001020820.1;MYADM,synonymous_variant,p.=,ENST00000391768,;MYADM,downstream_gene_variant,,ENST00000421337,;MYADM,downstream_gene_variant,,ENST00000439000,;MYADM,downstream_gene_variant,,ENST00000448420,;MYADM,downstream_gene_variant,,ENST00000414489,;PRKCG,upstream_gene_variant,,ENST00000479081,;AC008440.5,downstream_gene_variant,,ENST00000413496,;							LOW	900/969		MYADM_HUMAN			Transcript			.	ENSP00000337222		CCDS12866.1			1	
C14orf79	0	LGGM	GRCh37	14	105455421	105455421	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	15	13	.	.	ENST00000547315.1:c.565T>C	p.Leu189=	p.L189=	ENST00000547315	NM_174891.3	189	Ttg/Ctg	0	1	1	UPI0000DACAC2	0		ENST00000547315		ENSG00000140104	20126		28			HGNC	p.L189L		C14orf79		SNV							ENST00000389964	protein_coding			hmmpanther:PTHR16156,hmmpanther:PTHR16156:SF7		L		C		1204/2370				J3KRA4_HUMAN,F8VUA8_HUMAN			YES	C14orf79,synonymous_variant,p.=,ENST00000547315,NM_174891.3;C14orf79,synonymous_variant,p.=,ENST00000551606,;C14orf79,5_prime_UTR_variant,,ENST00000550614,;C14orf79,upstream_gene_variant,,ENST00000549240,;C14orf79,non_coding_transcript_exon_variant,,ENST00000549584,;C14orf79,upstream_gene_variant,,ENST00000548178,;C14orf79,synonymous_variant,p.=,ENST00000389964,;C14orf79,non_coding_transcript_exon_variant,,ENST00000551046,;C14orf79,intron_variant,,ENST00000548641,;							LOW	565/978		CN079_HUMAN			Transcript			.	ENSP00000450114		CCDS42000.1			1	
C11orf82	0	LGGM	GRCh37	11	82625869	82625869	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	11	13	.	.	ENST00000533655.1:c.89C>T	p.Ser30Phe	p.S30F	ENST00000533655	NM_145018.3	30	tCt/tTt	0	1		UPI00017A75E5	0	NA	ENST00000329143		ENSG00000165490	26351		24	2.47		HGNC	p.S30F		C11orf82		SNV							ENST00000525388	protein_coding	getma.org/?cm=var&var=hg19,11,82625869,C,T&fts=all						T	medium	139/3087		getma.org/?cm=msa&ty=f&p=NOXIN_HUMAN&rb=7&re=121&var=S30F		B4DMA1_HUMAN				C11orf82,missense_variant,p.Ser30Phe,ENST00000533655,NM_145018.3;C11orf82,missense_variant,p.Ser30Phe,ENST00000430323,;C11orf82,missense_variant,p.Ser30Phe,ENST00000528759,;C11orf82,missense_variant,p.Ser30Phe,ENST00000525361,;C11orf82,missense_variant,p.Ser30Phe,ENST00000525388,;C11orf82,missense_variant,p.Ser30Phe,ENST00000532277,;C11orf82,missense_variant,p.Ser91Phe,ENST00000532764,;C11orf82,missense_variant,p.Ser30Phe,ENST00000524921,;C11orf82,missense_variant,p.Ser30Phe,ENST00000528262,;C11orf82,missense_variant,p.Ser30Phe,ENST00000532589,;C11orf82,5_prime_UTR_variant,,ENST00000329143,;PRCP,intron_variant,,ENST00000534396,;C11orf82,non_coding_transcript_exon_variant,,ENST00000528189,;							MODIFIER	-/2094	S30F				Transcript			.	ENSP00000329930					1	
FANCA	0	LGGM	GRCh37	16	89831344	89831344	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	22	14	.	.	ENST00000389301.3:c.2732G>T	p.Trp911Leu	p.W911L	ENST00000389301	NM_000135.2	911	tGg/tTg	0	1	1	UPI0000520A1A	0	NA	ENST00000389301		ENSG00000187741	3582		36	2.42		HGNC	p.W911L		FANCA		SNV			1				ENST00000568369	protein_coding	getma.org/?cm=var&var=hg19,16,89831344,C,A&fts=all		hmmpanther:PTHR12047		W/L		A	medium	2763/5451		getma.org/?cm=msa&ty=f&p=FANCA_HUMAN&rb=6&re=1108&var=W911L	deleterious(0)	H3BT53_HUMAN			YES	FANCA,missense_variant,p.Trp911Leu,ENST00000389301,NM_000135.2;FANCA,missense_variant,p.Trp911Leu,ENST00000568369,NM_001286167.1;FANCA,missense_variant,p.Trp24Leu,ENST00000567988,;FANCA,missense_variant,p.Trp37Leu,ENST00000561660,;FANCA,missense_variant,p.Trp5Leu,ENST00000563510,;FANCA,missense_variant,p.Trp47Leu,ENST00000563318,;FANCA,non_coding_transcript_exon_variant,,ENST00000305699,;FANCA,downstream_gene_variant,,ENST00000561667,;FANCA,downstream_gene_variant,,ENST00000567205,;							MODERATE	2732/4368	W911L	FANCA_HUMAN			Transcript		benign(0.307)	.	ENSP00000373952		CCDS32515.1			1	
GPR98	0	LGGM	GRCh37	5	90079731	90079731	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	56	14	.	.	ENST00000405460.2:c.13510A>G	p.Arg4504Gly	p.R4504G	ENST00000405460	NM_032119.3	4504	Aga/Gga	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		70	2.14		HGNC	p.R165G	COSM1439107	GPR98		SNV			1			1	ENST00000425867	protein_coding	getma.org/?cm=var&var=hg19,5,90079731,A,G&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		R/G		G	medium	13606/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=4490&re=4689&var=R4504G					YES	GPR98,missense_variant,p.Arg4504Gly,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Arg165Gly,ENST00000425867,;					1		MODERATE	13510/18921	R4504G	GPR98_HUMAN			Transcript		benign(0.175)	.	ENSP00000384582		CCDS47246.1			1	
CLECL1P	0	LGGM	GRCh37	12	9875342	9875342	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	29	14	.	.	ENST00000327839.3:c.384A>T	p.Lys128Asn	p.K128N	ENST00000327839	NM_172004.3	128	aaA/aaT	0	1	1	UPI00000740B2	0	getma.org/pdb.php?prot=CLCL1_HUMAN&from=116&to=167&var=K128N	ENST00000327839		ENSG00000184293	24462		43	0.83		HGNC	p.K128N		CLECL1		SNV							ENST00000327839	protein_coding	getma.org/?cm=var&var=hg19,12,9875342,T,A&fts=all		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF132,Gene3D:3.10.100.10,Superfamily_domains:SSF56436		K/N		A	low	419/670		getma.org/?cm=msa&ty=f&p=CLCL1_HUMAN&rb=116&re=167&var=K128N	deleterious(0.05)				YES	CLECL1,missense_variant,p.Lys128Asn,ENST00000327839,NM_172004.3;CLECL1,missense_variant,p.Lys80Asn,ENST00000542530,;CLECL1,upstream_gene_variant,,ENST00000540988,NM_001253750.1;							MODERATE	384/504	K128N	CLCL1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000331766		CCDS8603.1			1	
SUCO	0	LGGM	GRCh37	1	172539257	172539257	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	40	14	.	.	ENST00000263688.3:c.927T>C	p.Asn309=	p.N309=	ENST00000263688	NM_014283.3	309	aaT/aaC	0	1	1	UPI0000070BAC	0		ENST00000263688		ENSG00000094975	1240		54			HGNC	p.N309N		SUCO		SNV							ENST00000263688	protein_coding			PROSITE_profiles:PS51469,hmmpanther:PTHR12953,hmmpanther:PTHR12953:SF0		N		C		1146/5556							YES	SUCO,synonymous_variant,p.=,ENST00000367723,NM_016227.2;SUCO,synonymous_variant,p.=,ENST00000608151,;SUCO,synonymous_variant,p.=,ENST00000263688,NM_014283.3;SUCO,synonymous_variant,p.=,ENST00000610051,NM_001282750.1;SUCO,non_coding_transcript_exon_variant,,ENST00000608804,;SUCO,non_coding_transcript_exon_variant,,ENST00000608673,;							LOW	927/3765		SUCO_HUMAN			Transcript			.	ENSP00000263688		CCDS1303.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H080037	H080037N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	7	14	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		21			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
CTTNBP2NL	0	LGGM	GRCh37	1	112991668	112991668	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	4	15	.	.	ENST00000271277.6:c.204T>C	p.Asn68=	p.N68=	ENST00000271277	NM_018704.2	68	aaT/aaC	0	1	1	UPI000006ED23	0		ENST00000271277		ENSG00000143079	25330		19			HGNC	p.N68N	rs567471803	CTTNBP2NL	6.06E-05	SNV							ENST00000441739	protein_coding		C:0	Pfam_domain:PF09727,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF9		N		C		429/5897				B1AMN7_HUMAN	C:0	C:0	YES	CTTNBP2NL,synonymous_variant,p.=,ENST00000271277,NM_018704.2;CTTNBP2NL,synonymous_variant,p.=,ENST00000441739,;		C:0.0002					LOW	204/1920		CT2NL_HUMAN		C:0	Transcript			.	ENSP00000271277	8.24E-06	CCDS845.1		C:0.001	1	
ACTR5	0	LGGM	GRCh37	20	37384650	37384650	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	13	15	.	.	ENST00000243903.4:c.1144C>G	p.Leu382Val	p.L382V	ENST00000243903	NM_024855.3	382	Ctc/Gtc	0	1	1	UPI000006F9EF	0	NA	ENST00000243903		ENSG00000101442	14671		28	0		HGNC	p.L382V		ACTR5		SNV							ENST00000243903	protein_coding	getma.org/?cm=var&var=hg19,20,37384650,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11937:SF16,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268		L/V		G	neutral	1181/2236		getma.org/?cm=msa&ty=f&p=ARP5_HUMAN&rb=30&re=570&var=L382V	tolerated(0.55)				YES	ACTR5,missense_variant,p.Leu382Val,ENST00000243903,NM_024855.3;							MODERATE	1144/1824	L382V	ARP5_HUMAN			Transcript		benign(0.22)	.	ENSP00000243903		CCDS13308.1			1	
TNRC6A	0	LGGM	GRCh37	16	24802582	24802582	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	27	15	.	.	ENST00000395799.3:c.2619C>T	p.Ser873=	p.S873=	ENST00000395799	NM_014494.2	873	tcC/tcT	0	1	1	UPI000059D33E	0		ENST00000395799		ENSG00000090905	11969		42			HGNC	p.S873S		TNRC6A		SNV							ENST00000395799	protein_coding			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28,Low_complexity_(Seg):seg		S		T		2748/8438				G8JLL8_HUMAN			YES	TNRC6A,synonymous_variant,p.=,ENST00000395799,NM_014494.2;TNRC6A,synonymous_variant,p.=,ENST00000315183,;TNRC6A,upstream_gene_variant,,ENST00000450465,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,upstream_gene_variant,,ENST00000568903,;TNRC6A,upstream_gene_variant,,ENST00000561726,;TNRC6A,upstream_gene_variant,,ENST00000567232,;							LOW	2619/5889		TNR6A_HUMAN			Transcript			.	ENSP00000379144		CCDS10624.2			1	
PCDHA6	0	LGGM	GRCh37	5	140209546	140209546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	74	15	.	.	ENST00000529310.1:c.1870G>A	p.Val624Met	p.V624M	ENST00000529310	NM_018909.2	624	Gtg/Atg	0	1	1	UPI00001273CE	0	getma.org/pdb.php?prot=PCDA6_HUMAN&from=579&to=670&var=V624M	ENST00000529310		ENSG00000081842	8672		89	2.44		HGNC	p.V624M	COSM589629,COSM589628	PCDHA6		SNV						1,1	ENST00000529310	protein_coding	getma.org/?cm=var&var=hg19,5,140209546,G,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/M		A	medium	1984/5374		getma.org/?cm=msa&ty=f&p=PCDA6_HUMAN&rb=579&re=670&var=V624M	deleterious_low_confidence(0)				YES	PCDHA6,missense_variant,p.Val624Met,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,;PCDHA7,upstream_gene_variant,,ENST00000525929,NM_018910.2;PCDHA7,upstream_gene_variant,,ENST00000378125,NM_031852.1;					1,1		MODERATE	1870/2853	V624M	PCDA6_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000433378		CCDS47281.1			1	
FAM170A	0	LGGM	GRCh37	5	118970336	118970336	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	60	16	.	.	ENST00000335286.6:c.893A>G	p.Glu298Gly	p.E298G	ENST00000335286	NM_182761.3	298	gAg/gGg	0	1		UPI0000EA37E6	0	NA	ENST00000515256		ENSG00000164334	27963		76	0		HGNC	p.E251G		FAM170A		SNV							ENST00000504819	protein_coding	getma.org/?cm=var&var=hg19,5,118970336,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		E/G		G	neutral	1065/1213		getma.org/?cm=msa&ty=f&p=F170A_HUMAN&rb=201&re=330&var=E298G	tolerated_low_confidence(0.32)					FAM170A,missense_variant,p.Glu298Gly,ENST00000515256,;FAM170A,intron_variant,,ENST00000509264,;FAM170A,missense_variant,p.Glu298Gly,ENST00000335286,NM_182761.3;FAM170A,missense_variant,p.Glu251Gly,ENST00000504819,;FAM170A,missense_variant,p.Glu251Gly,ENST00000379555,NM_001163991.1;HSD17B4,intron_variant,,ENST00000515235,;							MODERATE	893/993	E298G	F170A_HUMAN			Transcript		benign(0.033)	.	ENSP00000422684					1	
LRPPRC	0	LGGM	GRCh37	2	44184580	44184580	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	24	16	.	.	ENST00000260665.7:c.1593T>C	p.Asn531=	p.N531=	ENST00000260665	NM_133259.3	531	aaT/aaC	0	1	1	UPI000019B4D2	0		ENST00000260665		ENSG00000138095	15714		40			HGNC	p.N531N		LRPPRC		SNV			1				ENST00000260665	protein_coding			hmmpanther:PTHR24015,hmmpanther:PTHR24015:SF0		N		G		1651/6335				E5KNY5_HUMAN			YES	LRPPRC,synonymous_variant,p.=,ENST00000260665,NM_133259.3;LRPPRC,downstream_gene_variant,,ENST00000409946,;LRPPRC,non_coding_transcript_exon_variant,,ENST00000467058,;							LOW	1593/4185		LPPRC_HUMAN			Transcript			.	ENSP00000260665		CCDS33189.1			1	
HSPA9	0	LGGM	GRCh37	5	137897364	137897364	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	46	17	.	.	ENST00000297185.3:c.1087A>G	p.Ile363Val	p.I363V	ENST00000297185	NM_004134.6	363	Atc/Gtc	0	1	1	UPI000012BA4E	0	getma.org/pdb.php?prot=GRP75_HUMAN&from=55&to=653&var=I363V	ENST00000297185		ENSG00000113013	5244		63	0.465		HGNC	p.I363V	rs757068982	HSPA9		SNV							ENST00000297185	protein_coding	getma.org/?cm=var&var=hg19,5,137897364,T,C&fts=all		HAMAP:MF_00332,hmmpanther:PTHR19375:SF173,hmmpanther:PTHR19375,TIGRFAM_domain:TIGR02350,Pfam_domain:PF00012,Superfamily_domains:SSF53067		I/V		C	neutral	1213/3321	3.00E-05	getma.org/?cm=msa&ty=f&p=GRP75_HUMAN&rb=55&re=653&var=I363V	tolerated_low_confidence(0.87)	D6RJI2_HUMAN,D6RA73_HUMAN			YES	HSPA9,missense_variant,p.Ile363Val,ENST00000297185,NM_004134.6;SNORD63,upstream_gene_variant,,ENST00000411005,;SNORD63,upstream_gene_variant,,ENST00000384262,NR_002913.1;HSPA9,intron_variant,,ENST00000501917,;HSPA9,missense_variant,p.Ile68Val,ENST00000523929,;HSPA9,non_coding_transcript_exon_variant,,ENST00000507097,;HSPA9,non_coding_transcript_exon_variant,,ENST00000508003,;HSPA9,upstream_gene_variant,,ENST00000524109,;HSPA9,upstream_gene_variant,,ENST00000512328,;							MODERATE	1087/2040	I363V	GRP75_HUMAN			Transcript		benign(0.007)	.	ENSP00000297185	1.65E-05	CCDS4208.1			1	
APOB	0	LGGM	GRCh37	2	21234975	21234975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	52	18	.	.	ENST00000233242.1:c.4765A>G	p.Met1589Val	p.M1589V	ENST00000233242	NM_000384.2	1589	Atg/Gtg	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		70	0.205		HGNC	p.M1589V		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21234975,T,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		M/V		C	neutral	4893/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=1473&re=1672&var=M1589V		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Met1589Val,ENST00000233242,NM_000384.2;							MODERATE	4765/13692	M1589V	APOB_HUMAN			Transcript		benign(0.001)	.	ENSP00000233242		CCDS1703.1			1	
RIMS1	0	LGGM	GRCh37	6	72892008	72892008	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	48	18	.	.	ENST00000521978.1:c.834C>T	p.Ser278=	p.S278=	ENST00000521978	NM_014989.5	278	tcC/tcT	0	1	1	UPI00001908FB	0		ENST00000521978		ENSG00000079841	17282		66			HGNC	p.S278S		RIMS1		SNV			1				ENST00000517960	protein_coding			hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19		S		T		834/5079							YES	RIMS1,synonymous_variant,p.=,ENST00000264839,;RIMS1,synonymous_variant,p.=,ENST00000348717,;RIMS1,synonymous_variant,p.=,ENST00000521978,NM_014989.5;RIMS1,synonymous_variant,p.=,ENST00000491071,;RIMS1,synonymous_variant,p.=,ENST00000520567,;RIMS1,synonymous_variant,p.=,ENST00000517960,;RIMS1,synonymous_variant,p.=,ENST00000518273,;RIMS1,synonymous_variant,p.=,ENST00000522291,;RIMS1,upstream_gene_variant,,ENST00000517433,;RIMS1,non_coding_transcript_exon_variant,,ENST00000370419,;							LOW	834/5079		RIMS1_HUMAN			Transcript			.	ENSP00000428417		CCDS47449.1			1	
SEL1L2	0	LGGM	GRCh37	20	13830163	13830163	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	45	19	.	.	ENST00000378072.5:c.1696C>G	p.Leu566Val	p.L566V	ENST00000378072	NM_001271539.1	566	Ctg/Gtg	0	1		UPI000003BCBA	0	NA	ENST00000284951		ENSG00000101251	15897		64	2.31		HGNC	p.L679V		SEL1L2		SNV							ENST00000284951	protein_coding	getma.org/?cm=var&var=hg19,20,13830163,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11102:SF53,hmmpanther:PTHR11102		L/V		C	medium	2110/2224		getma.org/?cm=msa&ty=f&p=SE1L2_HUMAN&rb=622&re=688&var=L679V	tolerated(0.42)	C9JNX3_HUMAN				SEL1L2,missense_variant,p.Leu679Val,ENST00000284951,;SEL1L2,missense_variant,p.Leu566Val,ENST00000378072,NM_001271539.1;SEL1L2,non_coding_transcript_exon_variant,,ENST00000486903,;SEL1L2,non_coding_transcript_exon_variant,,ENST00000482196,;SEL1L2,downstream_gene_variant,,ENST00000492548,;SEL1L2,3_prime_UTR_variant,,ENST00000423870,;SEL1L2,3_prime_UTR_variant,,ENST00000475649,;							MODERATE	2035/2067	L679V	SE1L2_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000284951					1	
NDUFV1	0	LGGM	GRCh37	11	67376121	67376121	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	31	19	.	.	ENST00000322776.6:c.254T>C	p.Leu85Ser	p.L85S	ENST00000322776	NM_001166102.1	85	tTg/tCg	0	1	1	UPI00001308A7	0	getma.org/pdb.php?prot=NDUV1_HUMAN&from=80&to=252&var=L85S	ENST00000322776		ENSG00000167792	7716		50	4.795		HGNC	p.L78S		NDUFV1		SNV			1				ENST00000533075	protein_coding	getma.org/?cm=var&var=hg19,11,67376121,T,C&fts=all		Superfamily_domains:0052768,Pfam_domain:PF01512,hmmpanther:PTHR11780,TIGRFAM_domain:TIGR01959		L/S		C	high	407/1596		getma.org/?cm=msa&ty=f&p=NDUV1_HUMAN&rb=80&re=252&var=L85S	deleterious_low_confidence(0)	E5KNH5_HUMAN,Q96ID4_HUMAN,E9PPD6_HUMAN,E9PJL9_HUMAN,B4DE93_HUMAN			YES	NDUFV1,missense_variant,p.Leu85Ser,ENST00000322776,NM_001166102.1,NM_007103.3;NDUFV1,missense_variant,p.Leu78Ser,ENST00000415352,;NDUFV1,missense_variant,p.Leu76Ser,ENST00000529927,;NDUFV1,missense_variant,p.Leu78Ser,ENST00000533075,;NDUFV1,missense_variant,p.Leu73Ser,ENST00000529867,;NDUFV1,missense_variant,p.Leu46Ser,ENST00000530638,;NDUFV1,missense_variant,p.Leu68Ser,ENST00000528328,;NDUFV1,5_prime_UTR_variant,,ENST00000532303,;NDUFV1,5_prime_UTR_variant,,ENST00000532244,;NDUFV1,5_prime_UTR_variant,,ENST00000532343,;NDUFV1,5_prime_UTR_variant,,ENST00000528314,;C11orf72,upstream_gene_variant,,ENST00000333139,;C11orf72,upstream_gene_variant,,ENST00000446232,;RP11-655M14.12,downstream_gene_variant,,ENST00000533876,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000524876,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000525086,;DOC2GP,downstream_gene_variant,,ENST00000495263,;NDUFV1,upstream_gene_variant,,ENST00000526169,;NDUFV1,downstream_gene_variant,,ENST00000528548,;NDUFV1,3_prime_UTR_variant,,ENST00000530103,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000526770,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000524838,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000528377,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000530014,;NDUFV1,non_coding_transcript_exon_variant,,ENST00000534139,;NDUFV1,upstream_gene_variant,,ENST00000533919,;NDUFV1,upstream_gene_variant,,ENST00000531250,;NDUFV1,upstream_gene_variant,,ENST00000527355,;NDUFV1,upstream_gene_variant,,ENST00000527923,;NDUFV1,downstream_gene_variant,,ENST00000532260,;NDUFV1,upstream_gene_variant,,ENST00000534352,;NDUFV1,downstream_gene_variant,,ENST00000526138,;DOC2GP,downstream_gene_variant,,ENST00000514950,;							MODERATE	254/1395	L85S	NDUV1_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000322450		CCDS8173.1			1	
BUB1	0	LGGM	GRCh37	2	111419281	111419281	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	43	21	.	.	ENST00000302759.6:c.1095G>A	p.Leu365=	p.L365=	ENST00000302759	NM_004336.4	365	ttG/ttA	0	1	1	UPI00000012C4	0		ENST00000302759		ENSG00000169679	1148		64			HGNC	p.L365L		BUB1		SNV			1				ENST00000409311	protein_coding			hmmpanther:PTHR14030,hmmpanther:PTHR14030:SF3		L		T		1214/3507				Q9BXX5_HUMAN,C9JRC7_HUMAN,C9JQA4_HUMAN,C9IYH4_HUMAN			YES	BUB1,synonymous_variant,p.=,ENST00000535254,NM_001278616.1;BUB1,synonymous_variant,p.=,ENST00000302759,NM_004336.4;BUB1,synonymous_variant,p.=,ENST00000409311,NM_001278617.1;BUB1,non_coding_transcript_exon_variant,,ENST00000466333,;BUB1,non_coding_transcript_exon_variant,,ENST00000465029,;BUB1,non_coding_transcript_exon_variant,,ENST00000477481,;BUB1,downstream_gene_variant,,ENST00000468927,;							LOW	1095/3258		BUB1_HUMAN			Transcript			.	ENSP00000302530		CCDS33273.1			1	
USP47	0	LGGM	GRCh37	11	11901891	11901891	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	55	21	.	.	ENST00000339865.5:c.40-4123C>G		*14*	ENST00000339865	NM_017944.3			0	1		UPI0001E88E94	0		ENST00000399455		ENSG00000170242	20076		76			HGNC	p.D69E		USP47		SNV							ENST00000527733	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF98		D/E		G		387/7396			tolerated(0.77)					USP47,missense_variant,p.Asp89Glu,ENST00000399455,;USP47,missense_variant,p.Asp69Glu,ENST00000527733,NM_001282659.1;USP47,5_prime_UTR_variant,,ENST00000539466,;USP47,intron_variant,,ENST00000339865,NM_017944.3;USP47,non_coding_transcript_exon_variant,,ENST00000525257,;USP47,non_coding_transcript_exon_variant,,ENST00000525367,;							MODERATE	267/4128		UBP47_HUMAN			Transcript		benign(0.002)	.	ENSP00000382382					1	
DNAH8	0	LGGM	GRCh37	6	38994341	38994341	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	39	21	.	.	ENST00000359357.3:c.13083G>T	p.Arg4361Ser	p.R4361S	ENST00000359357		4361	agG/agT	0	1	1	UPI00003677EB	0	getma.org/pdb.php?prot=DYH8_HUMAN&from=3792&to=4488&var=R4361S	ENST00000359357		ENSG00000124721	2952		60	2.34		HGNC	p.R4566S		DNAH8		SNV							ENST00000327475	protein_coding	getma.org/?cm=var&var=hg19,6,38994341,G,T&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		R/S		T	medium	13337/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3792&re=4488&var=R4361S					YES	DNAH8,missense_variant,p.Arg4566Ser,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Arg4361Ser,ENST00000359357,;DNAH8,missense_variant,p.Arg4325Ser,ENST00000441566,;							MODERATE	13083/13473	R4361S	DYH8_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000352312					1	
DICER1	0	LGGM	GRCh37	14	95569708	95569708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	21	22	.	.	ENST00000343455.3:c.4025G>T	p.Arg1342Leu	p.R1342L	ENST00000343455	NM_177438.2	1342	cGc/cTc	0	1		UPI0000168662	0	getma.org/pdb.php?prot=DICER_HUMAN&from=1313&to=1575&var=R1342L	ENST00000343455		ENSG00000100697	17098		43	0.805		HGNC	p.R240L		DICER1		SNV			1				ENST00000556045	protein_coding	getma.org/?cm=var&var=hg19,14,95569708,C,A&fts=all		Gene3D:1.10.1520.10,Pfam_domain:PF00636,PROSITE_profiles:PS50142,hmmpanther:PTHR14950,hmmpanther:PTHR14950:SF3,SMART_domains:SM00535,Superfamily_domains:SSF69065		R/L		A	low	4263/10277		getma.org/?cm=msa&ty=f&p=DICER_HUMAN&rb=1313&re=1575&var=R1342L	deleterious(0.01)	Q5D0K5_HUMAN,B3KMJ0_HUMAN				DICER1,missense_variant,p.Arg1342Leu,ENST00000526495,;DICER1,missense_variant,p.Arg1342Leu,ENST00000343455,NM_177438.2;DICER1,missense_variant,p.Arg1342Leu,ENST00000393063,NM_030621.3;DICER1,missense_variant,p.Arg1342Leu,ENST00000527414,NM_001271282.1;DICER1,missense_variant,p.Arg1342Leu,ENST00000541352,NM_001195573.1;DICER1,missense_variant,p.Arg240Leu,ENST00000556045,;DICER1,missense_variant,p.Arg21Leu,ENST00000532939,;DICER1,downstream_gene_variant,,ENST00000554367,;DICER1,downstream_gene_variant,,ENST00000556681,;							MODERATE	4025/5769	R1342L	DICER_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000343745		CCDS9931.1			1	
IL16	0	LGGM	GRCh37	15	81598400	81598400	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	46	24	.	.	ENST00000302987.4:c.3572C>A	p.Ala1191Asp	p.A1191D	ENST00000302987		1191	gCt/gAt	0	1	1	UPI0000229CE7	0	getma.org/pdb.php?prot=IL16_HUMAN&from=1113&to=1194&var=A1191D	ENST00000302987		ENSG00000172349	5980		70	2.665		HGNC	p.A490D		IL16		SNV							ENST00000394652	protein_coding	getma.org/?cm=var&var=hg19,15,81598400,C,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		A/D		A	medium	3572/3999		getma.org/?cm=msa&ty=f&p=IL16_HUMAN&rb=1113&re=1194&var=A1191D	deleterious(0)	H0YLL1_HUMAN			YES	IL16,missense_variant,p.Ala1191Asp,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,missense_variant,p.Ala1191Asp,ENST00000302987,;IL16,missense_variant,p.Ala1145Asp,ENST00000559388,;IL16,missense_variant,p.Ala490Asp,ENST00000394652,NM_004513.5;IL16,missense_variant,p.Ala495Asp,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,;							MODERATE	3572/3999	A1191D	IL16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302935		CCDS42069.1			1	
PLIN5	0	LGGM	GRCh37	19	4523555	4523555	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	25	.	.	ENST00000381848.3:c.1377C>G	p.Pro459=	p.P459=	ENST00000381848	NM_001013706.2	459	ccC/ccG	0	1	1	UPI00001D821D	0		ENST00000381848		ENSG00000214456	33196		60			HGNC	p.P459P	rs375761593,COSM1612393	PLIN5	0.000104	SNV	C:0			0.000105		0,1	ENST00000381848	protein_coding		C:0.0008			P	C:0.0001	C		1458/2470	1.57E-05				C:0	C:0	YES	PLIN5,synonymous_variant,p.=,ENST00000381848,NM_001013706.2;CTB-50L17.14,downstream_gene_variant,,ENST00000586020,;PLIN5,downstream_gene_variant,,ENST00000589728,;		C:0.0002			0,1		LOW	1377/1392		PLIN5_HUMAN		C:0	Transcript			.	ENSP00000371272	2.48E-05	CCDS42473.1		C:0	1	
EFTUD1	0	LGGM	GRCh37	15	82450117	82450117	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	42	25	.	.	ENST00000268206.7:c.1967A>T	p.Glu656Val	p.E656V	ENST00000268206	NM_024580.5	656	gAg/gTg	0	1	1	UPI00001FEA35	0	getma.org/pdb.php?prot=ETUD1_HUMAN&from=600&to=799&var=E656V	ENST00000268206		ENSG00000140598	25789		67	3.24		HGNC	p.E656V		EFTUD1		SNV							ENST00000268206	protein_coding	getma.org/?cm=var&var=hg19,15,82450117,T,A&fts=all		Superfamily_domains:SSF54980,Pfam_domain:PF14492,Gene3D:3.30.70.870,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF3		E/V		A	medium	2136/3675		getma.org/?cm=msa&ty=f&p=ETUD1_HUMAN&rb=600&re=799&var=E656V	deleterious(0)	H0YNW8_HUMAN			YES	EFTUD1,missense_variant,p.Glu656Val,ENST00000268206,NM_024580.5;EFTUD1,missense_variant,p.Glu605Val,ENST00000359445,NM_001040610.2;EFTUD1,non_coding_transcript_exon_variant,,ENST00000561340,;EFTUD1,non_coding_transcript_exon_variant,,ENST00000559429,;							MODERATE	1967/3363	E656V	ETUD1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000268206		CCDS42071.1			1	
GBE1	0	LGGM	GRCh37	3	81627227	81627227	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	57	29	.	.	ENST00000429644.2:c.1467G>T	p.Ser489=	p.S489=	ENST00000429644	NM_000158.3	489	tcG/tcT	0	1	1	UPI0000209A24	0		ENST00000429644		ENSG00000114480	4180		86			HGNC	p.S448S		GBE1		SNV			1				ENST00000489715	protein_coding			hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF110,Gene3D:3.20.20.80,PIRSF_domain:PIRSF000463,SMART_domains:SM00642,Superfamily_domains:SSF51445		S		A		2111/3461							YES	GBE1,synonymous_variant,p.=,ENST00000429644,NM_000158.3;GBE1,synonymous_variant,p.=,ENST00000489715,;GBE1,upstream_gene_variant,,ENST00000484687,;							LOW	1467/2109		GLGB_HUMAN			Transcript			.	ENSP00000410833		CCDS54612.1			1	
ATP10A	0	LGGM	GRCh37	15	25926002	25926002	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	22	29	.	.	ENST00000356865.6:c.3633G>A	p.Ala1211=	p.A1211=	ENST00000356865	NM_024490.3	1211	gcG/gcA	0	1	1	UPI0000124FAB	0		ENST00000356865		ENSG00000206190	13542		51			HGNC	p.A1211A	rs749215241	ATP10A		SNV			1				ENST00000356865	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		A		T		3745/6680	3.00E-05						YES	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;							LOW	3633/4500		AT10A_HUMAN			Transcript			.	ENSP00000349325	1.65E-05	CCDS32178.1			1	
SECISBP2L	0	LGGM	GRCh37	15	49327835	49327835	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	35	30	.	.	ENST00000559471.1:c.224A>T	p.Asn75Ile	p.N75I	ENST00000559471	NM_001193489.1	75	aAt/aTt	0	1	1	UPI00001C1F8B	0	NA	ENST00000559471		ENSG00000138593	28997		65	0.895		HGNC	p.N75I		SECISBP2L		SNV							ENST00000261847	protein_coding	getma.org/?cm=var&var=hg19,15,49327835,T,A&fts=all		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10		N/I		A	low	488/7176		getma.org/?cm=msa&ty=f&p=SBP2L_HUMAN&rb=9&re=323&var=N75I	tolerated(0.29)	J3KPI1_HUMAN			YES	SECISBP2L,missense_variant,p.Asn75Ile,ENST00000559471,NM_001193489.1;SECISBP2L,missense_variant,p.Asn75Ile,ENST00000261847,NM_014701.3;SECISBP2L,missense_variant,p.Asn75Ile,ENST00000559424,;SECISBP2L,intron_variant,,ENST00000380927,;SECISBP2L,downstream_gene_variant,,ENST00000557923,;							MODERATE	224/3306	N75I	SBP2L_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000453854		CCDS53942.1			1	
CHIA	0	LGGM	GRCh37	1	111861158	111861158	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	7	30	.	.	ENST00000369740.1:c.773A>G	p.Glu258Gly	p.E258G	ENST00000369740	NM_001258001.1	258	gAg/gGg	0	1		UPI00000727DC	0	getma.org/pdb.php?prot=CHIA_HUMAN&from=22&to=365&var=E258G	ENST00000343320		ENSG00000134216	17432		37	2.29		HGNC	p.E258G		CHIA		SNV							ENST00000343320	protein_coding	getma.org/?cm=var&var=hg19,1,111861158,A,G&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF00704,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF37,SMART_domains:SM00636,Superfamily_domains:SSF51445		E/G		G	medium	867/1622		getma.org/?cm=msa&ty=f&p=CHIA_HUMAN&rb=22&re=365&var=E258G	deleterious(0.02)	E9PLJ2_HUMAN				CHIA,missense_variant,p.Glu258Gly,ENST00000369740,NM_001258001.1,NM_201653.3;CHIA,missense_variant,p.Glu258Gly,ENST00000343320,;CHIA,missense_variant,p.Glu97Gly,ENST00000451398,NM_001258004.1;CHIA,missense_variant,p.Glu202Gly,ENST00000422815,NM_021797.3,NM_001258003.1;CHIA,missense_variant,p.Glu150Gly,ENST00000430615,;CHIA,missense_variant,p.Glu97Gly,ENST00000353665,NM_001258005.1;CHIA,missense_variant,p.Glu97Gly,ENST00000483391,NM_001258002.1,NM_001040623.2;CHIA,missense_variant,p.Glu97Gly,ENST00000489524,;RP5-1125M8.2,intron_variant,,ENST00000426321,;CHIA,3_prime_UTR_variant,,ENST00000352594,;CHIA,non_coding_transcript_exon_variant,,ENST00000477918,;							MODERATE	773/1431	E258G	CHIA_HUMAN			Transcript		benign(0.236)	.	ENSP00000341828		CCDS41368.1			1	
DMXL1	0	LGGM	GRCh37	5	118533497	118533497	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	90	31	.	.	ENST00000311085.8:c.7591C>T	p.Gln2531Ter	p.Q2531*	ENST00000311085	NM_005509.4	2531	Caa/Taa	0	1	1	UPI000013F0EC	0	NA	ENST00000311085		ENSG00000172869	2937		121	0		HGNC	p.Q2531X		DMXL1		SNV							ENST00000311085	protein_coding	getma.org/?cm=var&var=hg19,5,118533497,C,T&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12		Q/*		T	NA	7671/11072		NA		F1T0K4_HUMAN,E7EMZ0_HUMAN			YES	DMXL1,stop_gained,p.Gln2531Ter,ENST00000311085,NM_005509.4;DMXL1,stop_gained,p.Gln2531Ter,ENST00000539542,;DMXL1,non_coding_transcript_exon_variant,,ENST00000502516,;DMXL1,upstream_gene_variant,,ENST00000511622,;							HIGH	7591/9084	Q2531*	DMXL1_HUMAN			Transcript			.	ENSP00000309690		CCDS4125.1			1	
PSD3	0	LGGM	GRCh37	8	18623001	18623001	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	33	31	.	.	ENST00000327040.8:c.2130A>G	p.Gln710=	p.Q710=	ENST00000327040	NM_015310.3	710	caA/caG	0	1		UPI0001AE6EBA	0		ENST00000440756		ENSG00000156011	19093		64			HGNC	p.Q176Q		PSD3		SNV							ENST00000286485	protein_coding			Gene3D:1.10.1000.11,Pfam_domain:PF01369,PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106,SMART_domains:SM00222,Superfamily_domains:SSF48425		Q		C		2239/11693				J3KQK0_HUMAN				PSD3,synonymous_variant,p.=,ENST00000440756,;PSD3,synonymous_variant,p.=,ENST00000327040,NM_015310.3;PSD3,synonymous_variant,p.=,ENST00000523619,;PSD3,synonymous_variant,p.=,ENST00000286485,NM_206909.2;PSD3,synonymous_variant,p.=,ENST00000519851,;PSD3,synonymous_variant,p.=,ENST00000520858,;PSD3,3_prime_UTR_variant,,ENST00000518315,;							LOW	2136/3150					Transcript			.	ENSP00000401704					1	
NOP56	0	LGGM	GRCh37	20	2638660	2638660	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	48	32	.	.	ENST00000329276.5:c.1505C>G	p.Ser502Cys	p.S502C	ENST00000329276	NM_006392.3	502	tCt/tGt	0	1	1	UPI000016A81D	0	NA	ENST00000329276		ENSG00000101361	15911		80	0.55		HGNC	p.S502C		NOP56		SNV			1				ENST00000329276	protein_coding	getma.org/?cm=var&var=hg19,20,2638660,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894		S/C		G	neutral	2021/2400		getma.org/?cm=msa&ty=f&p=NOP56_HUMAN&rb=412&re=594&var=S502C	deleterious_low_confidence(0.01)	Q9BSN3_HUMAN			YES	NOP56,missense_variant,p.Ser502Cys,ENST00000329276,NM_006392.3;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.3;IDH3B,downstream_gene_variant,,ENST00000380851,NM_001258384.1,NM_174855.2;NOP56,downstream_gene_variant,,ENST00000415272,;NOP56,downstream_gene_variant,,ENST00000445139,;SNORA51,downstream_gene_variant,,ENST00000606420,NR_002981.1;SNORD86,downstream_gene_variant,,ENST00000391196,NR_004399.1;SNORD110,downstream_gene_variant,,ENST00000408189,NR_003078.1;SNORD57,downstream_gene_variant,,ENST00000448188,NR_002738.1;SNORD56,downstream_gene_variant,,ENST00000413522,NR_002739.1;NOP56,non_coding_transcript_exon_variant,,ENST00000492135,;NOP56,non_coding_transcript_exon_variant,,ENST00000466447,;NOP56,non_coding_transcript_exon_variant,,ENST00000462630,;NOP56,non_coding_transcript_exon_variant,,ENST00000467857,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000474315,;NOP56,downstream_gene_variant,,ENST00000484998,;IDH3B,downstream_gene_variant,,ENST00000492240,;IDH3B,downstream_gene_variant,,ENST00000462967,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000460258,;IDH3B,downstream_gene_variant,,ENST00000491065,;NOP56,downstream_gene_variant,,ENST00000496775,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,downstream_gene_variant,,ENST00000480447,;NOP56,downstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,downstream_gene_variant,,ENST00000471023,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000479376,;NOP56,3_prime_UTR_variant,,ENST00000467196,;							MODERATE	1505/1785	S502C	NOP56_HUMAN			Transcript		benign(0.035)	.	ENSP00000370589		CCDS13030.1			1	
PHIP	0	LGGM	GRCh37	6	79650744	79650744	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	68	32	.	.	ENST00000275034.4:c.5132G>A	p.Arg1711His	p.R1711H	ENST00000275034	NM_017934.5	1711	cGt/cAt	0	1	1	UPI000013DA40	0	NA	ENST00000275034		ENSG00000146247	15673		100	0.805		HGNC	p.R1711H		PHIP		SNV							ENST00000275034	protein_coding	getma.org/?cm=var&var=hg19,6,79650744,C,T&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF4,Low_complexity_(Seg):seg		R/H		T	low	5300/10460		getma.org/?cm=msa&ty=f&p=PHIP_HUMAN&rb=1448&re=1819&var=R1711H	deleterious_low_confidence(0.02)				YES	PHIP,missense_variant,p.Arg1711His,ENST00000275034,NM_017934.5;PHIP,non_coding_transcript_exon_variant,,ENST00000479165,;IRAK1BP1,intron_variant,,ENST00000606868,;							MODERATE	5132/5466	R1711H	PHIP_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000275034		CCDS4987.1			1	
ACAN	0	LGGM	GRCh37	15	89402481	89402481	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	40	34	.	.	ENST00000439576.2:c.6665G>A	p.Trp2222Ter	p.W2222*	ENST00000439576	NM_013227.3	2222	tGg/tAg	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		74	0		HGNC	p.W2222X		ACAN		SNV			1				ENST00000561243	protein_coding	getma.org/?cm=var&var=hg19,15,89402481,G,A&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		W/*		A	NA	7039/8840		NA		Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,stop_gained,p.Trp2222Ter,ENST00000439576,NM_013227.3;ACAN,stop_gained,p.Trp2222Ter,ENST00000559004,;ACAN,stop_gained,p.Trp2222Ter,ENST00000561243,;ACAN,stop_gained,p.Trp2222Ter,ENST00000352105,NM_001135.3;ACAN,stop_gained,p.Trp59Ter,ENST00000560601,;							HIGH	6665/7593	W2107*				Transcript			.	ENSP00000387356		CCDS53970.1			1	
ALB	0	LGGM	GRCh37	4	74275075	74275076	+	frameshift_variant	Frame_Shift_Del	DEL	CT	CT	-	novel	by Submitter	H080037	H080037N.bam	CT	CT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	42	36	.	.	ENST00000295897.4:c.486_487del	p.Leu163IlefsTer2	p.L163Ifs*2	ENST00000295897	NM_000477.5	162	taCTta/tata	0	1	1	UPI000002C1AC	0		ENST00000295897		ENSG00000163631	399		78			HGNC	p.12_13del		ALB		deletion			1				ENST00000503124	protein_coding			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,Prints_domain:PR00802		YL/YX		-		575-576/2263							YES	ALB,frameshift_variant,p.Leu163IlefsTer2,ENST00000295897,NM_000477.5;ALB,frameshift_variant,p.Leu163IlefsTer2,ENST00000509063,;ALB,frameshift_variant,p.Leu13IlefsTer2,ENST00000503124,;ALB,frameshift_variant,p.Leu48IlefsTer2,ENST00000401494,;ALB,frameshift_variant,p.Leu8IlefsTer2,ENST00000511370,;ALB,frameshift_variant,p.Leu165IlefsTer2,ENST00000441319,;ALB,intron_variant,,ENST00000415165,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,frameshift_variant,p.Thr28IlefsTer448,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000507673,;							HIGH	486-487/1830		ALBU_HUMAN			Transcript			.	ENSP00000295897		CCDS3555.1			1	
ALCAM	0	LGGM	GRCh37	3	105266282	105266282	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	38	36	.	.	ENST00000306107.5:c.1289C>T	p.Ser430Phe	p.S430F	ENST00000306107	NM_001627.3	430	tCt/tTt	0	1	1	UPI0000209ECA	0	NA	ENST00000306107		ENSG00000170017	400		74	0.69		HGNC	p.S430F		ALCAM		SNV							ENST00000472644	protein_coding	getma.org/?cm=var&var=hg19,3,105266282,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,SMART_domains:SM00408,Superfamily_domains:SSF48726		S/F		T	neutral	1789/4701		getma.org/?cm=msa&ty=f&p=CD166_HUMAN&rb=415&re=502&var=S430F	tolerated(0.68)	F5GXJ9_HUMAN			YES	ALCAM,missense_variant,p.Ser430Phe,ENST00000306107,NM_001627.3;ALCAM,missense_variant,p.Ser430Phe,ENST00000472644,NM_001243280.1;ALCAM,missense_variant,p.Ser191Phe,ENST00000465413,;ALCAM,missense_variant,p.Ser152Phe,ENST00000389927,;ALCAM,missense_variant,p.Ser379Phe,ENST00000486979,;ALCAM,downstream_gene_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000491388,;ALCAM,upstream_gene_variant,,ENST00000489178,;							MODERATE	1289/1752	S430F	CD166_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000305988		CCDS33810.1			1	
C2orf43	0	LGGM	GRCh37	2	20974576	20974576	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	62	37	.	.	ENST00000237822.3:c.462G>T	p.Glu154Asp	p.E154D	ENST00000237822	NM_021925.2	154	gaG/gaT	0	1	1	UPI0000071DAB	0	NA	ENST00000237822		ENSG00000118961	26145		99	1.52		HGNC	p.E106D		C2orf43		SNV							ENST00000412261	protein_coding	getma.org/?cm=var&var=hg19,2,20974576,C,A&fts=all		hmmpanther:PTHR13390:SF0,hmmpanther:PTHR13390,Pfam_domain:PF10230,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		E/D		A	low	542/2903		getma.org/?cm=msa&ty=f&p=CB043_HUMAN&rb=43&re=303&var=E154D	tolerated(0.08)	C9JHU6_HUMAN,B7ZA47_HUMAN,B4DU46_HUMAN			YES	C2orf43,missense_variant,p.Glu154Asp,ENST00000237822,NM_021925.2;C2orf43,missense_variant,p.Glu154Asp,ENST00000381090,;C2orf43,missense_variant,p.Glu24Asp,ENST00000403006,;C2orf43,missense_variant,p.Glu106Asp,ENST00000435420,NM_001282720.1;C2orf43,missense_variant,p.Glu24Asp,ENST00000541941,NM_001282721.1;C2orf43,missense_variant,p.Glu154Asp,ENST00000440866,;C2orf43,missense_variant,p.Glu106Asp,ENST00000412261,;C2orf43,missense_variant,p.Glu24Asp,ENST00000432947,;C2orf43,downstream_gene_variant,,ENST00000402479,;							MODERATE	462/978	E154D	CB043_HUMAN			Transcript		benign(0.03)	.	ENSP00000237822		CCDS1702.1			1	
SLC22A5	0	LGGM	GRCh37	5	131722732	131722732	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	145	41	.	.	ENST00000245407.3:c.840C>A	p.Ser280=	p.S280=	ENST00000245407	NM_003060.3	280	tcC/tcA	0	1	1	UPI0000130BB6	0		ENST00000245407		ENSG00000197375	10969		186			HGNC	p.S203S		SLC22A5		SNV			1				ENST00000415928	protein_coding			Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5,PROSITE_profiles:PS50850		S		A		1061/3237							YES	SLC22A5,synonymous_variant,p.=,ENST00000245407,NM_003060.3;SLC22A5,synonymous_variant,p.=,ENST00000435065,;SLC22A5,synonymous_variant,p.=,ENST00000415928,;SLC22A5,upstream_gene_variant,,ENST00000479605,;SLC22A5,synonymous_variant,p.=,ENST00000448810,;SLC22A5,3_prime_UTR_variant,,ENST00000437841,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,upstream_gene_variant,,ENST00000475308,;SLC22A5,upstream_gene_variant,,ENST00000447841,;							LOW	840/1674		S22A5_HUMAN			Transcript			.	ENSP00000245407		CCDS4154.1			1	
RBM27	0	LGGM	GRCh37	5	145609312	145609312	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	131	42	.	.	ENST00000265271.5:c.428G>A	p.Trp143Ter	p.W143*	ENST00000265271	NM_018989.1	143	tGg/tAg	0	1	1	UPI00001D7F03	0	NA	ENST00000265271		ENSG00000091009	29243		173	0		HGNC	p.W143X		RBM27		SNV							ENST00000265271	protein_coding	getma.org/?cm=var&var=hg19,5,145609312,G,A&fts=all		hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF1		W/*		A	NA	594/6451		NA					YES	RBM27,stop_gained,p.Trp143Ter,ENST00000265271,NM_018989.1;RBM27,stop_gained,p.Trp143Ter,ENST00000506502,;							HIGH	428/3183	W143*	RBM27_HUMAN			Transcript			.	ENSP00000265271		CCDS43378.1			1	
CKAP2L	0	LGGM	GRCh37	2	113498403	113498403	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	53	44	.	.	ENST00000302450.6:c.2004A>T	p.Pro668=	p.P668=	ENST00000302450	NM_152515.3	668	ccA/ccT	0	1	1	UPI0000207D64	0		ENST00000302450		ENSG00000169607	26877		97			HGNC	p.P668P		CKAP2L		SNV			1				ENST00000302450	protein_coding			Pfam_domain:PF15297,hmmpanther:PTHR16076,hmmpanther:PTHR16076:SF7		P		A		2083/4533				F5H0M5_HUMAN			YES	CKAP2L,synonymous_variant,p.=,ENST00000541405,;CKAP2L,synonymous_variant,p.=,ENST00000302450,NM_152515.3;NT5DC4,intron_variant,,ENST00000327581,;NT5DC4,downstream_gene_variant,,ENST00000491170,;CKAP2L,3_prime_UTR_variant,,ENST00000435431,;CKAP2L,downstream_gene_variant,,ENST00000474331,;							LOW	2004/2238		CKP2L_HUMAN			Transcript			.	ENSP00000305204		CCDS2100.1			1	
GABRR2	0	LGGM	GRCh37	6	89977532	89977532	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	106	44	.	.	ENST00000402938.3:c.602A>G	p.Tyr201Cys	p.Y201C	ENST00000402938	NM_002043.3	201	tAt/tGt	0	1	1	UPI000012B0DB	0	getma.org/pdb.php?prot=GBRR2_HUMAN&from=80&to=286&var=Y226C	ENST00000402938		ENSG00000111886	4091		150	3.03		HGNC	p.Y226C		GABRR2		SNV							ENST00000402938	protein_coding	getma.org/?cm=var&var=hg19,6,89977532,T,C&fts=all		hmmpanther:PTHR18945:SF197,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932		Y/C		C	medium	736/1682		getma.org/?cm=msa&ty=f&p=GBRR2_HUMAN&rb=80&re=286&var=Y226C	deleterious(0.01)	B4DER2_HUMAN			YES	GABRR2,missense_variant,p.Tyr201Cys,ENST00000402938,NM_002043.3;GABRR2,missense_variant,p.Tyr226Cys,ENST00000602399,;GABRR2,downstream_gene_variant,,ENST00000602808,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602432,;							MODERATE	602/1398	Y226C	GBRR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386029		CCDS5020.3			1	
FAT2	0	LGGM	GRCh37	5	150924687	150924687	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	32	45	.	.	ENST00000261800.5:c.6001C>T	p.Leu2001Phe	p.L2001F	ENST00000261800	NM_001447.2	2001	Ctt/Ttt	0	1	1	UPI0000055B22	0	NA	ENST00000261800		ENSG00000086570	3596		77	3.07		HGNC	p.L2001F	rs757234141	FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150924687,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		L/F		A	medium	6014/14534	1.50E-05	getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=1973&re=2061&var=L2001F					YES	FAT2,missense_variant,p.Leu2001Phe,ENST00000261800,NM_001447.2;							MODERATE	6001/13050	L2001F	FAT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261800	8.24E-06	CCDS4317.1			1	
PPFIBP1	0	LGGM	GRCh37	12	27844830	27844830	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	57	45	.	.	ENST00000318304.8:c.2852A>T	p.Tyr951Phe	p.Y951F	ENST00000318304	NM_177444.2	951	tAt/tTt	0	1	1	UPI00004565E6	0	NA	ENST00000318304		ENSG00000110841	9249		102	1.355		HGNC	p.Y951F		PPFIBP1		SNV							ENST00000318304	protein_coding	getma.org/?cm=var&var=hg19,12,27844830,A,T&fts=all		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF16		Y/F		T	low	3135/6001		getma.org/?cm=msa&ty=f&p=LIPB1_HUMAN&rb=875&re=1011&var=Y951F	tolerated(0.15)	F5H6Q7_HUMAN			YES	PPFIBP1,missense_variant,p.Tyr951Phe,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,missense_variant,p.Tyr945Phe,ENST00000228425,NM_003622.3;PPFIBP1,missense_variant,p.Tyr798Phe,ENST00000537927,NM_001198915.1;PPFIBP1,missense_variant,p.Tyr920Phe,ENST00000542629,;PPFIBP1,missense_variant,p.Tyr182Phe,ENST00000539326,;PPFIBP1,downstream_gene_variant,,ENST00000540114,;REP15,upstream_gene_variant,,ENST00000310791,NM_001029874.1;RP11-1060J15.4,downstream_gene_variant,,ENST00000536317,;RP11-1060J15.4,downstream_gene_variant,,ENST00000536922,;PPFIBP1,downstream_gene_variant,,ENST00000540256,;							MODERATE	2852/3036	Y951F	LIPB1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000314724		CCDS55812.1			1	
OR2A14	0	LGGM	GRCh37	7	143827010	143827010	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	125	47	.	.	ENST00000408899.2:c.805C>T	p.Gln269Ter	p.Q269*	ENST00000408899	NM_001001659.1	269	Cag/Tag	0	1	1	UPI0000061E6E	0	NA	ENST00000408899		ENSG00000221938	15084		172	0		HGNC	p.Q269X		OR2A14		SNV							ENST00000408899	protein_coding	getma.org/?cm=var&var=hg19,7,143827010,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF27,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		Q/*		T	NA	860/1012		NA					YES	OR2A14,stop_gained,p.Gln269Ter,ENST00000408899,NM_001001659.1;							HIGH	805/933	Q269*	O2A14_HUMAN			Transcript			.	ENSP00000386137		CCDS43672.1			1	
FLG	0	LGGM	GRCh37	1	152281023	152281023	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	177	47	.	.	ENST00000368799.1:c.6339A>T	p.Gly2113=	p.G2113=	ENST00000368799	NM_002016.1	2113	ggA/ggT	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748		224			HGNC	p.G2113G		FLG		SNV			1				ENST00000368799	protein_coding					G		A		6375/12747				Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							LOW	6339/12186		FILA_HUMAN			Transcript			.	ENSP00000357789		CCDS30860.1			1	
DNAH11	0	LGGM	GRCh37	7	21813508	21813508	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	147	48	.	.	ENST00000328843.6:c.9248A>G	p.Glu3083Gly	p.E3083G	ENST00000328843		3083	gAa/gGa	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		195			HGNC	p.E3083G		DNAH11		SNV			1				ENST00000328843	protein_coding			Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227,Superfamily_domains:SSF52540		E/G		G		9258/14167			deleterious(0.01)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Glu3083Gly,ENST00000328843,;DNAH11,missense_variant,p.Glu3076Gly,ENST00000409508,NM_001277115.1;							MODERATE	9227/13551					Transcript		benign(0.012)	.	ENSP00000475939		CCDS64602.1			1	
TRRAP	0	LGGM	GRCh37	7	98581914	98581914	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	38	50	.	.	ENST00000359863.4:c.9233A>T	p.Lys3078Met	p.K3078M	ENST00000359863	NM_001244580.1	3078	aAg/aTg	0	1	1	UPI00004575B4	0	NA	ENST00000359863		ENSG00000196367	12347		88	3.285		HGNC	p.K3048M		TRRAP		SNV							ENST00000446306	protein_coding	getma.org/?cm=var&var=hg19,7,98581914,A,T&fts=all		Pfam_domain:PF02259,PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1		K/M		T	medium	9442/12677		getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=2849&re=3204&var=K3078M		C9K0N1_HUMAN			YES	TRRAP,missense_variant,p.Lys3078Met,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Lys3049Met,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Lys3049Met,ENST00000446306,;TRRAP,missense_variant,p.Lys2789Met,ENST00000456197,;							MODERATE	9233/11580	K3078M	TRRAP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352925		CCDS59066.1			1	
NYAP2	0	LGGM	GRCh37	2	226446944	226446944	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	51	55	.	.	ENST00000272907.6:c.811A>T	p.Met271Leu	p.M271L	ENST00000272907	NM_020864.1	271	Atg/Ttg	0	1	1	UPI00001C1DB6	0	NA	ENST00000272907		ENSG00000144460	29291		106	2.585		HGNC	p.M271L		NYAP2		SNV							ENST00000272907	protein_coding	getma.org/?cm=var&var=hg19,2,226446944,A,T&fts=all		Pfam_domain:PF15439,hmmpanther:PTHR22633		M/L		T	medium	1224/4828		getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=201&re=400&var=M271L	deleterious(0)				YES	NYAP2,missense_variant,p.Met271Leu,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;							MODERATE	811/1962	M271L	NYAP2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000272907		CCDS46529.1			1	
PCLO	0	LGGM	GRCh37	7	82580168	82580168	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	119	63	.	.	ENST00000333891.9:c.9736C>T	p.Arg3246Ter	p.R3246*	ENST00000333891	NM_033026.5	3246	Cga/Tga	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		182	0		HGNC	p.R3246X	rs778608512,COSM3030826,COSM3030825,COSM3030827	PCLO		SNV			1			0,1,1,1	ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82580168,G,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		R/*		A	NA	10074/20329		NA					YES	PCLO,stop_gained,p.Arg3246Ter,ENST00000333891,NM_033026.5;PCLO,stop_gained,p.Arg3246Ter,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;					0,1,1,1		HIGH	9736/15429	R3177*	PCLO_HUMAN	0.000151		Transcript			.	ENSP00000334319	8.28E-06	CCDS47630.1			1	
VCAN	0	LGGM	GRCh37	5	82841382	82841382	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	92	67	.	.	ENST00000265077.3:c.9292T>C	p.Cys3098Arg	p.C3098R	ENST00000265077	NM_004385.4	3098	Tgc/Cgc	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		159	4.2		HGNC	p.C357R		VCAN		SNV			1				ENST00000502527	protein_coding	getma.org/?cm=var&var=hg19,5,82841382,T,C&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF00008,Gene3D:2.10.25.10,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50026		C/R		C	high	9857/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=3093&re=3123&var=C3098R	deleterious(0)				YES	VCAN,missense_variant,p.Cys3098Arg,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Cys2111Arg,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Cys1344Arg,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Cys1296Arg,ENST00000512590,;VCAN,missense_variant,p.Cys357Arg,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,;							MODERATE	9292/10191	C3098R	CSPG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265077		CCDS4060.1			1	
FAM135B	0	LGGM	GRCh37	8	139164003	139164003	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080037	H080037N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	43	78	.	.	ENST00000395297.1:c.2715G>C	p.Lys905Asn	p.K905N	ENST00000395297	NM_015912.3	905	aaG/aaC	0	1	1	UPI000057A0DB	0	NA	ENST00000395297		ENSG00000147724	28029		121	0.975		HGNC	p.K905N		FAM135B		SNV							ENST00000276737	protein_coding	getma.org/?cm=var&var=hg19,8,139164003,C,G&fts=all		hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3		K/N		G	low	2886/6962		getma.org/?cm=msa&ty=f&p=F135B_HUMAN&rb=770&re=969&var=K905N	deleterious(0.03)	J3QSR3_HUMAN			YES	FAM135B,missense_variant,p.Lys905Asn,ENST00000395297,NM_015912.3;FAM135B,missense_variant,p.Lys905Asn,ENST00000276737,;FAM135B,missense_variant,p.Lys215Asn,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;							MODERATE	2715/4221	K905N	F135B_HUMAN			Transcript		benign(0.035)	.	ENSP00000378710		CCDS6375.2			1	
VPS13B	0	LGGM	GRCh37	8	100866047	100866047	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080037	H080037N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	61	107	.	.	ENST00000358544.2:c.10505T>A	p.Phe3502Tyr	p.F3502Y	ENST00000358544	NM_017890.4	3502	tTt/tAt	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		168	1.7		HGNC	p.F3502Y		VPS13B		SNV			1				ENST00000358544	protein_coding	getma.org/?cm=var&var=hg19,8,100866047,T,A&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		F/Y		A	low	10616/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=3331&re=3530&var=F3502Y	deleterious(0.01)				YES	VPS13B,missense_variant,p.Phe3502Tyr,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Phe3477Tyr,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;							MODERATE	10505/12069	F3502Y	VP13B_HUMAN			Transcript		benign(0.153)	.	ENSP00000351346		CCDS6280.1			1	
MET	0	LGGM	GRCh37	7	116435735	116435735	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080037	H080037N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	235	113	.	.	ENST00000397752.3:c.3825G>A	p.Glu1275=	p.E1275=	ENST00000397752	NM_000245.2	1275	gaG/gaA	0	1		UPI000020F975	0		ENST00000397752		ENSG00000105976	7029		348			HGNC	p.E1275E		MET		SNV			1				ENST00000397752	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF261,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000617,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109		E		A		4025/6635				Q9UEJ3_HUMAN,B4DPY6_HUMAN,B4DLF5_HUMAN				MET,synonymous_variant,p.=,ENST00000397752,NM_000245.2,NM_001127500.1;MET,synonymous_variant,p.=,ENST00000318493,;MET,synonymous_variant,p.=,ENST00000539704,;							LOW	3825/4173		MET_HUMAN			Transcript			.	ENSP00000380860		CCDS43636.1			1	
SPTA1	0	LGGM	GRCh37	1	158644146	158644146	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080037	H080037N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	88	123	.	.	ENST00000368147.4:c.1323T>A	p.His441Gln	p.H441Q	ENST00000368147	NM_003126.2	441	caT/caA	0	1	1	UPI0000458906	0	getma.org/pdb.php?prot=SPTA1_HUMAN&from=370&to=474&var=H441Q	ENST00000368147		ENSG00000163554	11272		211	2.755		HGNC	p.H441Q	COSM463210	SPTA1		SNV			1			1	ENST00000368147	protein_coding	getma.org/?cm=var&var=hg19,1,158644146,A,T&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966		H/Q		T	medium	1504/7999		getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=370&re=474&var=H441Q	deleterious(0.02)	O60686_HUMAN			YES	SPTA1,missense_variant,p.His441Gln,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000467387,;					1		MODERATE	1323/7260	H441Q	SPTA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357129		CCDS41423.1			1	
FAM57B	0	LGGM	GRCh37	16	30036741	30036741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	2	2	.	.	ENST00000380495.4:c.588G>T	p.Met196Ile	p.M196I	ENST00000380495	NM_031478.4	196	atG/atT	0	1	1	UPI000022EE26	0	NA	ENST00000380495		ENSG00000149926	25295		4	1.67		HGNC	p.M196I		FAM57B		SNV							ENST00000380495	protein_coding	getma.org/?cm=var&var=hg19,16,30036741,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF8,Pfam_domain:PF03798,SMART_domains:SM00724		M/I		A	low	1320/2313		getma.org/?cm=msa&ty=f&p=FA57B_HUMAN&rb=38&re=254&var=M196I	tolerated(0.76)	F1T0F5_HUMAN			YES	FAM57B,missense_variant,p.Met196Ile,ENST00000380495,NM_031478.4;FAM57B,missense_variant,p.Met146Ile,ENST00000279389,;FAM57B,3_prime_UTR_variant,,ENST00000564806,;C16orf92,intron_variant,,ENST00000569198,;C16orf92,intron_variant,,ENST00000567847,;FAM57B,downstream_gene_variant,,ENST00000561666,;C16orf92,downstream_gene_variant,,ENST00000300575,NM_001109660.1,NM_001109659.1;DOC2A,upstream_gene_variant,,ENST00000574405,;DOC2A,upstream_gene_variant,,ENST00000567824,;DOC2A,upstream_gene_variant,,ENST00000572637,;DOC2A,upstream_gene_variant,,ENST00000570194,;DOC2A,upstream_gene_variant,,ENST00000564075,;FAM57B,downstream_gene_variant,,ENST00000569508,;C16orf92,downstream_gene_variant,,ENST00000561910,;							MODERATE	588/825	M196I	FA57B_HUMAN			Transcript		benign(0.345)	.	ENSP00000369863		CCDS10667.2			1	
TMC4	0	LGGM	GRCh37	19	54675826	54675826	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	16	2	.	.	ENST00000376591.4:c.124G>T	p.Glu42Ter	p.E42*	ENST00000376591	NM_001145303.1	42	Gag/Tag	0	1	1	UPI000040C55F	0	NA	ENST00000376591		ENSG00000167608	22998		18	0		HGNC	p.E36X		TMC4		SNV							ENST00000301187	protein_coding	getma.org/?cm=var&var=hg19,19,54675826,C,A&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF36		E/*		A	NA	256/2412		NA		C9JFU4_HUMAN			YES	TMC4,stop_gained,p.Glu42Ter,ENST00000376591,NM_001145303.1,NM_144686.2;TMC4,stop_gained,p.Glu36Ter,ENST00000301187,;TMC4,5_prime_UTR_variant,,ENST00000446291,;MBOAT7,downstream_gene_variant,,ENST00000245615,NM_024298.3;MBOAT7,downstream_gene_variant,,ENST00000431666,NM_001146083.1;MBOAT7,downstream_gene_variant,,ENST00000338624,NM_001146056.1;MBOAT7,downstream_gene_variant,,ENST00000449249,;TMC4,non_coding_transcript_exon_variant,,ENST00000479750,;TMC4,upstream_gene_variant,,ENST00000476013,;MBOAT7,downstream_gene_variant,,ENST00000494142,;MBOAT7,downstream_gene_variant,,ENST00000437868,;TMC4,upstream_gene_variant,,ENST00000497518,;							HIGH	124/2139	E42*	TMC4_HUMAN			Transcript			.	ENSP00000365776		CCDS46174.1			1	
KAAG1	0	LGGM	GRCh37	6	24358062	24358062	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	12	2	.	.	ENST00000274766.1:c.195C>A	p.Gly65=	p.G65=	ENST00000274766	NM_181337.3	65	ggC/ggA	0	1	1	UPI000007370E	0		ENST00000274766		ENSG00000146049	21031	8.76E-05	14			HGNC	p.G65G	rs759867603	KAAG1		SNV							ENST00000274766	protein_coding			Pfam_domain:PF15354		G		A		932/1382							YES	KAAG1,synonymous_variant,p.=,ENST00000274766,NM_181337.3;DCDC2,5_prime_UTR_variant,,ENST00000378454,NM_001195610.1,NM_016356.4;DCDC2,upstream_gene_variant,,ENST00000436313,;							LOW	195/255		KAAG1_HUMAN			Transcript			.	ENSP00000274766	8.28E-06	CCDS4551.1			1	
SLC43A2	0	LGGM	GRCh37	17	1494764	1494764	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	10	2	.	.	ENST00000301335.5:c.730G>T	p.Val244Leu	p.V244L	ENST00000301335		244	Gtg/Ttg	0	1	1	UPI00000707A9	0	NA	ENST00000301335		ENSG00000167703	23087		12	1.7		HGNC	p.V244L		SLC43A2		SNV							ENST00000571650	protein_coding	getma.org/?cm=var&var=hg19,17,1494764,C,A&fts=all		hmmpanther:PTHR20766:SF2,hmmpanther:PTHR20766,Pfam_domain:PF07690		V/L		A	low	819/8136		getma.org/?cm=msa&ty=f&p=LAT4_HUMAN&rb=56&re=392&var=V244L	tolerated(0.32)	Q8NBW0_HUMAN			YES	SLC43A2,missense_variant,p.Val244Leu,ENST00000301335,;SLC43A2,missense_variant,p.Val244Leu,ENST00000571650,NM_001284498.1;SLC43A2,missense_variant,p.Val244Leu,ENST00000382147,NM_152346.1;SLC43A2,missense_variant,p.Val107Leu,ENST00000412517,NM_001284499.1;SLC43A2,splice_region_variant,,ENST00000574274,;SLC43A2,splice_region_variant,,ENST00000572135,;SLC43A2,splice_region_variant,,ENST00000574743,;SLC43A2,splice_region_variant,,ENST00000572801,;SLC43A2,splice_region_variant,,ENST00000576721,;SLC43A2,downstream_gene_variant,,ENST00000571376,;							MODERATE	730/1710	V244L	LAT4_HUMAN			Transcript		benign(0.034)	.	ENSP00000301335		CCDS11006.1			1	
VAC14	0	LGGM	GRCh37	16	70731089	70731089	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	7	2	.	.	ENST00000261776.5:c.1908C>T	p.Cys636=	p.C636=	ENST00000261776	NM_018052.3	636	tgC/tgT	0	1	1	UPI00001A832B	0		ENST00000261776		ENSG00000103043	25507		9			HGNC	p.C636C		VAC14		SNV							ENST00000261776	protein_coding			hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023,Pfam_domain:PF11916,Superfamily_domains:SSF48371		C		A		2169/3099				Q9NTB8_HUMAN,B3KSM8_HUMAN			YES	VAC14,synonymous_variant,p.=,ENST00000261776,NM_018052.3;VAC14,synonymous_variant,p.=,ENST00000536184,;VAC14,intron_variant,,ENST00000566416,;VAC14,upstream_gene_variant,,ENST00000567648,;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,3_prime_UTR_variant,,ENST00000568886,;VAC14,non_coding_transcript_exon_variant,,ENST00000564685,;VAC14,upstream_gene_variant,,ENST00000564512,;							LOW	1908/2349		VAC14_HUMAN			Transcript			.	ENSP00000261776		CCDS10896.1			1	
ICOSLG	0	LGGM	GRCh37	21	45649867	45649867	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	6	2	.	.	ENST00000407780.3:c.898+70G>T		*300*	ENST00000407780	NM_001283052.1			0	1	1	UPI0000049DCB	0		ENST00000407780		ENSG00000160223	17087		8			HGNC	p.R323I		ICOSLG		SNV							ENST00000400379	protein_coding							A		-/7080				B7Z1W8_HUMAN,A0N0L8_HUMAN			YES	ICOSLG,missense_variant,p.Arg323Ile,ENST00000400379,NM_015259.4;ICOSLG,intron_variant,,ENST00000407780,NM_001283052.1;ICOSLG,intron_variant,,ENST00000400377,NM_001283051.1;ICOSLG,intron_variant,,ENST00000344330,NM_001283050.1;							MODIFIER	-/909		ICOSL_HUMAN			Transcript			.	ENSP00000384432		CCDS42952.1			1	
RPS6KA5	0	LGGM	GRCh37	14	91367081	91367081	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	29	3	.	.	ENST00000261991.3:c.1120-1G>T		p.X374_splice	ENST00000261991	NM_004755.2			0	1	1	UPI0000031C30	0		ENST00000261991		ENSG00000100784	10434		32			HGNC	-		RPS6KA5		SNV							ENST00000261991	protein_coding							A		-/4202				Q9UG98_HUMAN,B7Z2Y5_HUMAN			YES	RPS6KA5,splice_acceptor_variant,,ENST00000261991,NM_004755.2;RPS6KA5,splice_acceptor_variant,,ENST00000536315,;RPS6KA5,splice_acceptor_variant,,ENST00000418736,NM_182398.1;RPS6KA5,splice_acceptor_variant,,ENST00000556178,;RPS6KA5,splice_acceptor_variant,,ENST00000554206,;							HIGH	1120/2409		KS6A5_HUMAN			Transcript			.	ENSP00000261991		CCDS9893.1			1	
RPS6KL1	0	LGGM	GRCh37	14	75376687	75376687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	20	3	.	.	ENST00000555647.1:c.829G>T	p.Ala277Ser	p.A277S	ENST00000555647		277	Gcc/Tcc	0	1		UPI000006EBAA	0	NA	ENST00000354625		ENSG00000198208	20222		23	1.04		HGNC	p.A277S		RPS6KL1		SNV							ENST00000358328	protein_coding	getma.org/?cm=var&var=hg19,14,75376687,C,A&fts=all		hmmpanther:PTHR15508,PROSITE_profiles:PS50011		A/S		A	low	1221/3016		getma.org/?cm=msa&ty=f&p=RPKL1_HUMAN&rb=145&re=539&var=A277S	tolerated(0.72)					RPS6KL1,missense_variant,p.Ala277Ser,ENST00000555647,;RPS6KL1,missense_variant,p.Ala246Ser,ENST00000354625,;RPS6KL1,missense_variant,p.Ala277Ser,ENST00000557413,;RPS6KL1,missense_variant,p.Ala277Ser,ENST00000358328,NM_031464.4;RPS6KL1,intron_variant,,ENST00000553789,;RPS6KL1,intron_variant,,ENST00000553971,;RPS6KL1,upstream_gene_variant,,ENST00000556848,;RPS6KL1,upstream_gene_variant,,ENST00000555910,;RPS6KL1,upstream_gene_variant,,ENST00000553315,;RPS6KL1,downstream_gene_variant,,ENST00000554900,;RPS6KL1,missense_variant,p.Ala246Ser,ENST00000555009,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000555834,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000553646,;RPS6KL1,non_coding_transcript_exon_variant,,ENST00000554834,;RPS6KL1,downstream_gene_variant,,ENST00000553894,;							MODERATE	736/1626	A277S	RPKL1_HUMAN			Transcript		benign(0.007)	.	ENSP00000346644					1	
RAB13	0	LGGM	GRCh37	1	153955277	153955277	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	22	3	.	.	ENST00000368575.3:c.332C>T	p.Ser111Leu	p.S111L	ENST00000368575	NM_002870.3	111	tCg/tTg	0	1	1	UPI0000001264	0	getma.org/pdb.php?prot=RAB13_HUMAN&from=10&to=171&var=S111L	ENST00000368575		ENSG00000143545	9762	8.70E-05	25	1.27		HGNC	p.S111L	rs763159582,COSM3801978	RAB13		SNV						0,1	ENST00000368575	protein_coding	getma.org/?cm=var&var=hg19,1,153955277,G,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00173,Pfam_domain:PF00071,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF403,PROSITE_profiles:PS51419		S/L		A	low	448/1176		getma.org/?cm=msa&ty=f&p=RAB13_HUMAN&rb=10&re=171&var=S111L	deleterious(0.01)	Q504R6_HUMAN			YES	RAB13,missense_variant,p.Ser111Leu,ENST00000368575,NM_002870.3;RP11-422P24.11,downstream_gene_variant,,ENST00000608236,;RAB13,non_coding_transcript_exon_variant,,ENST00000462680,;RAB13,non_coding_transcript_exon_variant,,ENST00000495720,;RAB13,non_coding_transcript_exon_variant,,ENST00000484297,;					0,1		MODERATE	332/612	S111L	RAB13_HUMAN			Transcript		benign(0.038)	.	ENSP00000357564	8.24E-06	CCDS1058.1			1	
KTN1	0	LGGM	GRCh37	14	56134038	56134038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	46	3	.	.	ENST00000395314.3:c.3257C>A	p.Pro1086His	p.P1086H	ENST00000395314	NM_001079521.1	1086	cCt/cAt	0	1	1	UPI0000190F88	0	NA	ENST00000395314		ENSG00000126777	6467		49	1.735		HGNC	p.P1063H		KTN1		SNV							ENST00000395311	protein_coding	getma.org/?cm=var&var=hg19,14,56134038,C,A&fts=all		hmmpanther:PTHR18864		P/H		A	low	3325/4618		getma.org/?cm=msa&ty=f&p=KTN1_HUMAN&rb=1020&re=1123&var=P1086H	deleterious(0)	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,missense_variant,p.Pro1086His,ENST00000416613,;KTN1,missense_variant,p.Pro1086His,ENST00000395314,NM_001079521.1;KTN1,missense_variant,p.Pro1063His,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,missense_variant,p.Pro1063His,ENST00000395311,;KTN1,missense_variant,p.Pro1057His,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Pro1086His,ENST00000395309,;KTN1,missense_variant,p.Pro1063His,ENST00000395308,;KTN1,missense_variant,p.Pro352His,ENST00000554507,;KTN1,missense_variant,p.Pro91His,ENST00000555573,;KTN1,missense_variant,p.Pro47His,ENST00000553624,;KTN1,downstream_gene_variant,,ENST00000554570,;KTN1,missense_variant,p.Pro1086His,ENST00000459737,;KTN1,non_coding_transcript_exon_variant,,ENST00000555172,;KTN1,upstream_gene_variant,,ENST00000556631,;KTN1,upstream_gene_variant,,ENST00000334975,;KTN1,upstream_gene_variant,,ENST00000555506,;							MODERATE	3257/4074	P1086H	KTN1_HUMAN			Transcript		possibly_damaging(0.646)	.	ENSP00000378725		CCDS41957.1			1	
ABCC6	0	LGGM	GRCh37	16	16297365	16297365	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	17	3	.	.	ENST00000205557.7:c.900G>T	p.Leu300=	p.L300=	ENST00000205557	NM_001171.5	300	ctG/ctT	0	1	1	UPI00001AE5CA	0		ENST00000205557		ENSG00000091262	57		20			HGNC	p.L300L		ABCC6		SNV			1				ENST00000456970	protein_coding			Gene3D:2hydA01,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF63,Superfamily_domains:SSF90123,TIGRFAM_domain:TIGR00957		L		A		930/5747							YES	ABCC6,synonymous_variant,p.=,ENST00000205557,NM_001171.5;ABCC6,non_coding_transcript_exon_variant,,ENST00000574094,;ABCC6,synonymous_variant,p.=,ENST00000456970,;ABCC6,3_prime_UTR_variant,,ENST00000577103,;							LOW	900/4512		MRP6_HUMAN			Transcript			.	ENSP00000205557		CCDS10568.1			1	
CABIN1	0	LGGM	GRCh37	22	24437671	24437671	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	41	3	.	.	ENST00000398319.2:c.295C>A	p.Leu99Met	p.L99M	ENST00000398319	NM_001199281.1	99	Ctg/Atg	0	1		UPI0000126D6C	0	getma.org/pdb.php?prot=CABIN_HUMAN&from=89&to=155&var=L99M	ENST00000263119		ENSG00000099991	24187		44	0.845		HGNC	p.L99M		CABIN1		SNV							ENST00000405822	protein_coding	getma.org/?cm=var&var=hg19,22,24437671,C,A&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		L/M		A	low	422/7222		getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=89&re=155&var=L99M	tolerated(0.25)					CABIN1,missense_variant,p.Leu99Met,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Leu99Met,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Leu99Met,ENST00000405822,;CABIN1,intron_variant,,ENST00000445422,;CABIN1,intron_variant,,ENST00000454754,;							MODERATE	295/6663	L99M	CABIN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263119		CCDS13823.1			1	
FAIM2	0	LGGM	GRCh37	12	50283269	50283269	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	9	3	.	.	ENST00000320634.3:c.646A>G	p.Thr216Ala	p.T216A	ENST00000320634	NM_012306.3	216	Acc/Gcc	0	1	1	UPI0000072B0C	0	NA	ENST00000320634		ENSG00000135472	17067		12	2.995		HGNC	p.T170A		FAIM2		SNV							ENST00000550890	protein_coding	getma.org/?cm=var&var=hg19,12,50283269,T,C&fts=all		hmmpanther:PTHR23291:SF18,hmmpanther:PTHR23291,Pfam_domain:PF01027		T/A		C	medium	741/4654		getma.org/?cm=msa&ty=f&p=LFG2_HUMAN&rb=201&re=316&var=T216A	deleterious(0)	F8VV65_HUMAN,B3KR08_HUMAN			YES	FAIM2,missense_variant,p.Thr216Ala,ENST00000320634,NM_012306.3;FAIM2,missense_variant,p.Thr170Ala,ENST00000550890,;FAIM2,missense_variant,p.Thr216Ala,ENST00000550635,;FAIM2,missense_variant,p.Thr174Ala,ENST00000552669,;FAIM2,missense_variant,p.Thr85Ala,ENST00000552863,;FAIM2,downstream_gene_variant,,ENST00000547871,;FAIM2,intron_variant,,ENST00000550195,;							MODERATE	646/951	T216A	LFG2_HUMAN			Transcript		possibly_damaging(0.547)	.	ENSP00000321951		CCDS8791.1			1	
NUMB	0	LGGM	GRCh37	14	73759562	73759562	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	44	3	.	.	ENST00000355058.3:c.330G>T	p.Thr110=	p.T110=	ENST00000355058		110	acG/acT	0	1	1	UPI00001309BF	0		ENST00000355058		ENSG00000133961	8060		47			HGNC	p.T110T		NUMB		SNV							ENST00000356296	protein_coding			PROSITE_profiles:PS01179,hmmpanther:PTHR11232:SF33,hmmpanther:PTHR11232,Pfam_domain:PF00640,Gene3D:2.30.29.30,PIRSF_domain:PIRSF017607,SMART_domains:SM00462,Superfamily_domains:SSF50729		T		A		609/3593				Q5D0E5_HUMAN,G3V4S6_HUMAN,G3V3Z8_HUMAN,G3V3R1_HUMAN			YES	NUMB,synonymous_variant,p.=,ENST00000554546,NM_001005745.1;NUMB,synonymous_variant,p.=,ENST00000355058,;NUMB,synonymous_variant,p.=,ENST00000555238,NM_001005743.1;NUMB,synonymous_variant,p.=,ENST00000359560,;NUMB,synonymous_variant,p.=,ENST00000557597,NM_003744.5;NUMB,synonymous_variant,p.=,ENST00000356296,;NUMB,synonymous_variant,p.=,ENST00000555394,NM_001005744.1;NUMB,synonymous_variant,p.=,ENST00000535282,;NUMB,synonymous_variant,p.=,ENST00000560335,;NUMB,synonymous_variant,p.=,ENST00000454166,;NUMB,synonymous_variant,p.=,ENST00000555738,;NUMB,synonymous_variant,p.=,ENST00000559312,;NUMB,synonymous_variant,p.=,ENST00000544991,;NUMB,synonymous_variant,p.=,ENST00000554521,;NUMB,synonymous_variant,p.=,ENST00000555307,;NUMB,synonymous_variant,p.=,ENST00000554394,;NUMB,synonymous_variant,p.=,ENST00000555859,;NUMB,5_prime_UTR_variant,,ENST00000556772,;NUMB,intron_variant,,ENST00000555987,;NUMB,non_coding_transcript_exon_variant,,ENST00000556989,;NUMB,non_coding_transcript_exon_variant,,ENST00000554315,;NUMB,downstream_gene_variant,,ENST00000556112,;							LOW	330/1956		NUMB_HUMAN			Transcript			.	ENSP00000347169		CCDS32116.1			1	
ZBTB24	0	LGGM	GRCh37	6	109797415	109797415	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	37	3	.	.	ENST00000230122.3:c.1167G>T	p.Gln389His	p.Q389H	ENST00000230122	NM_014797.2	389	caG/caT	0	1	1	UPI000013C924	0	getma.org/pdb.php?prot=ZBT24_HUMAN&from=364&to=389&var=Q389H	ENST00000230122		ENSG00000112365	21143		40	1.305		HGNC	p.Q389H		ZBTB24		SNV			1				ENST00000230122	protein_coding	getma.org/?cm=var&var=hg19,6,109797415,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF3,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/H		A	low	1335/5519		getma.org/?cm=msa&ty=f&p=ZBT24_HUMAN&rb=344&re=409&var=Q389H	deleterious(0.01)				YES	ZBTB24,missense_variant,p.Gln389His,ENST00000230122,NM_014797.2,NM_001164313.1;							MODERATE	1167/2094	Q389H	ZBT24_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000230122		CCDS34509.1			1	
SLC13A3	0	LGGM	GRCh37	20	45194975	45194975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	37	3	.	.	ENST00000279027.4:c.1387C>T	p.Pro463Ser	p.P463S	ENST00000279027	NM_001193342.1	463	Ccc/Tcc	0	1	1	UPI000013542F	0	NA	ENST00000279027		ENSG00000158296	14430	8.65E-05	40	1.515		HGNC	p.P381S	rs754812051,COSM3991748	SLC13A3		SNV						0,1	ENST00000396360	protein_coding	getma.org/?cm=var&var=hg19,20,45194975,G,A&fts=all		hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939		P/S		A	low	1406/4017		getma.org/?cm=msa&ty=f&p=S13A3_HUMAN&rb=9&re=573&var=P463S	tolerated(0.15)	F6WI18_HUMAN,C9J7L4_HUMAN			YES	SLC13A3,missense_variant,p.Pro463Ser,ENST00000279027,NM_001193342.1,NM_022829.5;SLC13A3,missense_variant,p.Pro416Ser,ENST00000290317,NM_001011554.2;SLC13A3,missense_variant,p.Pro381Ser,ENST00000396360,;SLC13A3,missense_variant,p.Pro48Ser,ENST00000435032,;SLC13A3,missense_variant,p.Pro381Ser,ENST00000472148,NM_001193340.1;SLC13A3,missense_variant,p.Pro413Ser,ENST00000413164,NM_001193339.1;SLC13A3,missense_variant,p.Pro416Ser,ENST00000495082,;SLC13A3,downstream_gene_variant,,ENST00000468915,;					0,1		MODERATE	1387/1809	P463S	S13A3_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000279027	8.24E-06	CCDS13400.1			1	
TXNRD2	0	LGGM	GRCh37	22	19868156	19868156	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	9	3	.	.	ENST00000400521.1:c.1171G>A	p.Asp391Asn	p.D391N	ENST00000400521	NM_006440.3	391	Gac/Aac	0	1	1	UPI0000167BDD	0	getma.org/pdb.php?prot=TRXR2_HUMAN&from=366&to=394&var=D391N	ENST00000400521		ENSG00000184470	18155		12	1.205		HGNC	p.D390N		TXNRD2		SNV			1				ENST00000535882	protein_coding	getma.org/?cm=var&var=hg19,22,19868156,C,T&fts=all		hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF101,TIGRFAM_domain:TIGR01438,Prints_domain:PR00411		D/N		T	low	1178/1933		getma.org/?cm=msa&ty=f&p=TRXR2_HUMAN&rb=336&re=424&var=D391N	tolerated(0.1)				YES	TXNRD2,missense_variant,p.Asp390Asn,ENST00000535882,;TXNRD2,missense_variant,p.Asp390Asn,ENST00000400519,;TXNRD2,missense_variant,p.Asp361Asn,ENST00000400518,;TXNRD2,missense_variant,p.Asp391Asn,ENST00000400521,NM_006440.3;TXNRD2,missense_variant,p.Asp361Asn,ENST00000542719,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000474308,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000462330,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000485358,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000462843,;TXNRD2,missense_variant,p.Asp368Asn,ENST00000400525,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000495655,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000487165,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000494454,;							MODERATE	1171/1575	D391N	TRXR2_HUMAN			Transcript		benign(0.006)	.	ENSP00000383365		CCDS42981.1			1	
ZNF57	0	LGGM	GRCh37	19	2917662	2917662	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	23	3	.	.	ENST00000306908.5:c.1043C>A	p.Ser348Tyr	p.S348Y	ENST00000306908	NM_173480.2	348	tCc/tAc	0	1	1	UPI000006FE5C	0	getma.org/pdb.php?prot=ZNF57_HUMAN&from=348&to=349&var=S348Y	ENST00000306908		ENSG00000171970	13125		26	2.04		HGNC	p.S316Y		ZNF57		SNV							ENST00000523428	protein_coding	getma.org/?cm=var&var=hg19,19,2917662,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/Y		A	medium	1191/2003		getma.org/?cm=msa&ty=f&p=ZNF57_HUMAN&rb=318&re=379&var=S348Y	deleterious(0.03)	K7ERB8_HUMAN,G3V131_HUMAN,E5RHE3_HUMAN,A5HJR3_HUMAN			YES	ZNF57,missense_variant,p.Ser348Tyr,ENST00000306908,NM_173480.2;ZNF57,missense_variant,p.Ser316Tyr,ENST00000523428,;ZNF57,downstream_gene_variant,,ENST00000522294,;ZNF57,downstream_gene_variant,,ENST00000590305,;AC006277.2,intron_variant,,ENST00000520090,;							MODERATE	1043/1668	S348Y	ZNF57_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000303696		CCDS12098.1			1	
TBCCD1	0	LGGM	GRCh37	3	186272248	186272248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	38	3	.	.	ENST00000424280.1:c.1339G>T	p.Val447Phe	p.V447F	ENST00000424280	NM_001134415.1	447	Gtt/Ttt	0	1		UPI0000073055	0	NA	ENST00000338733		ENSG00000113838	25546		41	1.1		HGNC	p.V447F		TBCCD1		SNV							ENST00000338733	protein_coding	getma.org/?cm=var&var=hg19,3,186272248,C,A&fts=all		hmmpanther:PTHR16052		V/F		A	low	1468/2441		getma.org/?cm=msa&ty=f&p=TBCC1_HUMAN&rb=447&re=557&var=V447F	tolerated(0.08)	C9J4M0_HUMAN				TBCCD1,missense_variant,p.Val447Phe,ENST00000424280,NM_001134415.1;TBCCD1,missense_variant,p.Val447Phe,ENST00000338733,NM_018138.3;TBCCD1,missense_variant,p.Val351Phe,ENST00000446782,;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,non_coding_transcript_exon_variant,,ENST00000479590,;							MODERATE	1339/1674	V447F	TBCC1_HUMAN			Transcript		benign(0.002)	.	ENSP00000341652		CCDS3276.1			1	
KRIT1	0	LGGM	GRCh37	7	91844019	91844019	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	37	3	.	.	ENST00000394507.1:c.1636G>A	p.Ala546Thr	p.A546T	ENST00000394507	NM_194456.1	546	Gct/Act	0	1		UPI000006F5AA	0	getma.org/pdb.php?prot=KRIT1_HUMAN&from=517&to=640&var=A546T	ENST00000340022		ENSG00000001631	1573		40	-0.345		HGNC	p.A498T		KRIT1		SNV			1				ENST00000394503	protein_coding	getma.org/?cm=var&var=hg19,7,91844019,C,T&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR13283,Pfam_domain:PF00373,Gene3D:1.20.80.10,SMART_domains:SM00295,Superfamily_domains:SSF47031		A/T		T	neutral	2655/4553		getma.org/?cm=msa&ty=f&p=KRIT1_HUMAN&rb=517&re=640&var=A546T	tolerated(0.11)	C9JXI9_HUMAN,C9JSG7_HUMAN,C9JJM9_HUMAN,C9JI47_HUMAN,C9JF32_HUMAN,C9JEW7_HUMAN,C9JD81_HUMAN,C9JBN7_HUMAN,C9J718_HUMAN,C9J3W7_HUMAN,A4D1F7_HUMAN				KRIT1,missense_variant,p.Ala546Thr,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Ala546Thr,ENST00000340022,NM_004912.3,NM_194455.1;KRIT1,missense_variant,p.Ala546Thr,ENST00000412043,;KRIT1,missense_variant,p.Ala546Thr,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Ala498Thr,ENST00000394503,NM_001013406.1;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,non_coding_transcript_exon_variant,,ENST00000475770,;							MODERATE	1636/2211	A546T	KRIT1_HUMAN			Transcript		benign(0.01)	.	ENSP00000344668		CCDS5624.1			1	
SYNE1	0	LGGM	GRCh37	6	152642405	152642405	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	19	3	.	.	ENST00000367255.5:c.16204G>T	p.Glu5402Ter	p.E5402*	ENST00000367255	NM_182961.3	5402	Gaa/Taa	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		22	0		HGNC	p.E5331X		SYNE1		SNV			1				ENST00000423061	protein_coding	getma.org/?cm=var&var=hg19,6,152642405,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		E/*		A	NA	16806/27748		NA					YES	SYNE1,stop_gained,p.Glu5402Ter,ENST00000367255,NM_182961.3;SYNE1,stop_gained,p.Glu5402Ter,ENST00000265368,;SYNE1,stop_gained,p.Glu5331Ter,ENST00000448038,;SYNE1,stop_gained,p.Glu5331Ter,ENST00000423061,NM_033071.3;SYNE1,stop_gained,p.Glu5075Ter,ENST00000341594,;SYNE1,upstream_gene_variant,,ENST00000356820,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,upstream_gene_variant,,ENST00000367256,;							HIGH	16204/26394	E5402*	SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
ACAD9	0	LGGM	GRCh37	3	128618273	128618273	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	59	4	.	.	ENST00000308982.7:c.777C>A	p.Pro259=	p.P259=	ENST00000308982	NM_014049.4	259	ccC/ccA	0	1	1	UPI00000498C3	0		ENST00000308982		ENSG00000177646	21497		63			HGNC	p.P259P		ACAD9		SNV			1				ENST00000308982	protein_coding			Gene3D:2.40.110.10,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF264,Superfamily_domains:SSF56645		P		A		858/2454				Q9H9W4_HUMAN,Q9BUX5_HUMAN,H0Y8Z9_HUMAN			YES	ACAD9,synonymous_variant,p.=,ENST00000308982,NM_014049.4;ACAD9,downstream_gene_variant,,ENST00000514336,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511526,;ACAD9,synonymous_variant,p.=,ENST00000508971,;ACAD9,3_prime_UTR_variant,,ENST00000511227,;ACAD9,3_prime_UTR_variant,,ENST00000505867,;ACAD9,3_prime_UTR_variant,,ENST00000505192,;ACAD9,upstream_gene_variant,,ENST00000511325,;ACAD9,downstream_gene_variant,,ENST00000514643,;ACAD9,downstream_gene_variant,,ENST00000512801,;							LOW	777/1866		ACAD9_HUMAN			Transcript			.	ENSP00000312618		CCDS3053.1			1	
C21orf2	0	LGGM	GRCh37	21	45750412	45750412	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	4	5	.	.	ENST00000397956.3:c.933C>T	p.His311=	p.H311=	ENST00000397956	NM_001271441.1	311	caC/caT	0	1		UPI000012867B	0		ENST00000339818		ENSG00000160226	1260		9			HGNC	p.H311H		C21orf2		SNV							ENST00000397956	protein_coding							A		-/2233				D3DSL5_HUMAN				C21orf2,synonymous_variant,p.=,ENST00000397956,NM_001271441.1;C21orf2,intron_variant,,ENST00000339818,NM_004928.2,NM_001271440.1;C21orf2,intron_variant,,ENST00000325223,;PFKL,downstream_gene_variant,,ENST00000403390,;PFKL,downstream_gene_variant,,ENST00000349048,NM_002626.4;AP001062.7,upstream_gene_variant,,ENST00000448927,;AP001062.8,upstream_gene_variant,,ENST00000422357,;AP001062.8,upstream_gene_variant,,ENST00000444409,;C21orf2,intron_variant,,ENST00000496321,;C21orf2,intron_variant,,ENST00000470196,;C21orf2,non_coding_transcript_exon_variant,,ENST00000462742,;PFKL,downstream_gene_variant,,ENST00000474114,;PFKL,downstream_gene_variant,,ENST00000466134,;PFKL,downstream_gene_variant,,ENST00000397961,;PFKL,downstream_gene_variant,,ENST00000498841,;PFKL,downstream_gene_variant,,ENST00000460521,;PFKL,downstream_gene_variant,,ENST00000467315,;PFKL,downstream_gene_variant,,ENST00000495274,;C21orf2,downstream_gene_variant,,ENST00000478674,;AP001062.1,upstream_gene_variant,,ENST00000333748,;							MODIFIER	-/771		CU002_HUMAN			Transcript			.	ENSP00000344566		CCDS13709.1			1	
CLIP2	0	LGGM	GRCh37	7	73790373	73790373	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	2	5	.	.	ENST00000223398.6:c.1642C>T	p.Arg548Trp	p.R548W	ENST00000223398	NM_003388.4	548	Cgg/Tgg	0	1	1	UPI000007061E	0	NA	ENST00000223398		ENSG00000106665	2586		7	0.895		HGNC	p.R513W	rs782208048,COSM1452030	CLIP2	6.37E-05	SNV			1			0,1	ENST00000361545	protein_coding	getma.org/?cm=var&var=hg19,7,73790373,C,T&fts=all		hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10,Low_complexity_(Seg):seg		R/W		T	low	1969/5563		getma.org/?cm=msa&ty=f&p=CLIP2_HUMAN&rb=487&re=686&var=R548W	deleterious(0)	Q7Z5B7_HUMAN			YES	CLIP2,missense_variant,p.Arg548Trp,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.Arg513Trp,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.Arg548Trp,ENST00000395060,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,upstream_gene_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;					0,1		MODERATE	1642/3141	R548W	CLIP2_HUMAN			Transcript		possibly_damaging(0.677)	.	ENSP00000223398	8.26E-06	CCDS5569.1			1	
SLC26A9	0	LGGM	GRCh37	1	205904943	205904943	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	38	5	.	.	ENST00000367134.2:c.6C>T	p.Ser2=	p.S2=	ENST00000367134	NM_134325.2	2	agC/agT	0	1		UPI000014028B	0		ENST00000367135		ENSG00000174502	14469		43			HGNC	p.S2S		SLC26A9		SNV							ENST00000340781	protein_coding			hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF17		S		A		120/4799								SLC26A9,synonymous_variant,p.=,ENST00000367135,NM_052934.3;SLC26A9,synonymous_variant,p.=,ENST00000367134,NM_134325.2;SLC26A9,synonymous_variant,p.=,ENST00000340781,;RP4-681L3.2,downstream_gene_variant,,ENST00000421166,;							LOW	Jun-76		S26A9_HUMAN			Transcript			.	ENSP00000356103		CCDS30990.1			1	
FITM2	0	LGGM	GRCh37	20	42939781	42939781	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	8	5	.	.	ENST00000396825.3:c.8A>G	p.His3Arg	p.H3R	ENST00000396825	NM_001080472.1	3	cAt/cGt	0	1	1	UPI0000128612	0	NA	ENST00000396825		ENSG00000197296	16135		13	0		HGNC	p.H3R		FITM2		SNV							ENST00000396825	protein_coding	getma.org/?cm=var&var=hg19,20,42939781,T,C&fts=all		hmmpanther:PTHR23129,hmmpanther:PTHR23129:SF1		H/R		C	neutral	29/4597		getma.org/?cm=msa&ty=f&p=FITM2_HUMAN&rb=1&re=42&var=H3R	tolerated_low_confidence(0.46)				YES	FITM2,missense_variant,p.His3Arg,ENST00000396825,NM_001080472.1;							MODERATE	8/789	H3R	FITM2_HUMAN			Transcript		benign(0)	.	ENSP00000380037		CCDS33473.1			1	
PRDM2	0	LGGM	GRCh37	1	14059276	14059276	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	16	6	.	.	ENST00000235372.7:c.130G>A	p.Val44Ile	p.V44I	ENST00000235372	NM_012231.4	44	Gtc/Atc	0	1	1	UPI000013C9CD	0	getma.org/pdb.php?prot=PRDM2_HUMAN&from=42&to=141&var=V44I	ENST00000235372		ENSG00000116731	9347		22	1.815		HGNC	p.V44I		PRDM2		SNV							ENST00000235372	protein_coding	getma.org/?cm=var&var=hg19,1,14059276,G,A&fts=all		Gene3D:2.170.270.10,PIRSF_domain:PIRSF002395,PROSITE_profiles:PS50280,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,SMART_domains:SM00317,Superfamily_domains:SSF82199		V/I		A	low	986/7957		getma.org/?cm=msa&ty=f&p=PRDM2_HUMAN&rb=42&re=141&var=V44I		S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,missense_variant,p.Val44Ile,ENST00000235372,NM_012231.4;PRDM2,missense_variant,p.Val44Ile,ENST00000311066,NM_015866.4;PRDM2,missense_variant,p.Val44Ile,ENST00000376048,NM_001135610.1;PRDM2,missense_variant,p.Val44Ile,ENST00000484063,;PRDM2,intron_variant,,ENST00000491134,;							MODERATE	130/5157	V44I	PRDM2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000235372		CCDS150.1			1	
KIAA1211	0	LGGM	GRCh37	4	57182681	57182681	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	21	6	.	.	ENST00000504228.1:c.3013A>T	p.Lys1005Ter	p.K1005*	ENST00000504228		1005	Aag/Tag	0	1		UPI0000237309	0	NA	ENST00000264229		ENSG00000109265	29219		27	0		HGNC	p.K1005X		KIAA1211		SNV							ENST00000264229	protein_coding	getma.org/?cm=var&var=hg19,4,57182681,A,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350,Low_complexity_(Seg):seg		K/*		T	NA	3404/4109		NA						KIAA1211,stop_gained,p.Lys1005Ter,ENST00000504228,;KIAA1211,stop_gained,p.Lys998Ter,ENST00000541073,;KIAA1211,stop_gained,p.Lys1005Ter,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;							HIGH	3013/3702	K1005*	K1211_HUMAN			Transcript			.	ENSP00000264229		CCDS43230.1			1	
PSMB1	0	LGGM	GRCh37	6	170852793	170852793	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	40	6	.	.	ENST00000262193.6:c.329C>A	p.Ala110Asp	p.A110D	ENST00000262193	NM_002793.3	110	gCc/gAc	0	1	1	UPI000013259C	0	getma.org/pdb.php?prot=PSB1_HUMAN&from=34&to=226&var=A110D	ENST00000262193		ENSG00000008018	9537		46	0.28		HGNC	p.A110D		PSMB1		SNV							ENST00000262193	protein_coding	getma.org/?cm=var&var=hg19,6,170852793,G,T&fts=all		Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF52,Superfamily_domains:SSF56235		A/D		T	neutral	428/928		getma.org/?cm=msa&ty=f&p=PSB1_HUMAN&rb=34&re=226&var=A110D	tolerated(0.49)				YES	PSMB1,missense_variant,p.Ala110Asp,ENST00000262193,NM_002793.3;PSMB1,non_coding_transcript_exon_variant,,ENST00000462957,;							MODERATE	329/726	A110D	PSB1_HUMAN			Transcript		benign(0.001)	.	ENSP00000262193		CCDS34577.1			1	
AMTN	0	LGGM	GRCh37	4	71384526	71384526	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	31	7	.	.	ENST00000339336.4:c.32T>C	p.Leu11Pro	p.L11P	ENST00000339336	NM_212557.2	11	cTa/cCa	0	1	1	UPI00000389F3	0	NA	ENST00000339336		ENSG00000187689	33188		38	1.04		HGNC	p.L11P		AMTN		SNV							ENST00000339336	protein_coding	getma.org/?cm=var&var=hg19,4,71384526,T,C&fts=all		Cleavage_site_(Signalp):SignalP-noTM		L/P		C	low	162/1037		getma.org/?cm=msa&ty=f&p=AMTN_HUMAN&rb=5&re=190&var=L11P	deleterious_low_confidence(0)	F1T0L8_HUMAN			YES	AMTN,missense_variant,p.Leu11Pro,ENST00000339336,NM_212557.2;AMTN,missense_variant,p.Leu11Pro,ENST00000504451,NM_001286731.1;							MODERATE	32/630	L11P	AMTN_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000341013		CCDS3542.1			1	
TP53	0	LGGM	GRCh37	17	7578257	7578257	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	7	7	.	.	ENST00000269305.4:c.592G>T	p.Glu198Ter	p.E198*	ENST00000269305	NM_001126112.2	198	Gaa/Taa	0	1	1	UPI000002ED67	0	NA	ENST00000269305		ENSG00000141510	11998		14	0		HGNC	p.E198X	TP53_g.12661G>T,COSM44241,COSM118013,COSM118010,COSM118011,COSM3522696,COSM1750370,COSM118012	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578257,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		E/*		A	NA	782/2579		NA		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			YES	TP53,stop_gained,p.Glu198Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Glu198Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Glu198Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Glu198Ter,ENST00000445888,;TP53,stop_gained,p.Glu198Ter,ENST00000359597,;TP53,stop_gained,p.Glu198Ter,ENST00000413465,;TP53,stop_gained,p.Glu66Ter,ENST00000509690,;TP53,stop_gained,p.Glu105Ter,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,;					0,1,1,1,1,1,1,1		HIGH	592/1182	E198*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
BTN2A2	0	LGGM	GRCh37	6	26385275	26385275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	28	8	.	.	ENST00000356709.4:c.127A>T	p.Ile43Phe	p.I43F	ENST00000356709	NM_001197240.1	43	Atc/Ttc	0	1	1	UPI00000480EA	0	getma.org/pdb.php?prot=BT2A2_HUMAN&from=33&to=146&var=I43F	ENST00000356709		ENSG00000124508	1137		36	2.485		HGNC	p.I43F		BTN2A2		SNV							ENST00000356709	protein_coding	getma.org/?cm=var&var=hg19,6,26385275,A,T&fts=all		hmmpanther:PTHR24100:SF43,hmmpanther:PTHR24100,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		I/F		T	medium	238/3590		getma.org/?cm=msa&ty=f&p=BT2A2_HUMAN&rb=33&re=146&var=I43F	deleterious(0)	C9JAJ6_HUMAN,C9J8R3_HUMAN,C9IZY2_HUMAN,C9IY66_HUMAN			YES	BTN2A2,missense_variant,p.Ile43Phe,ENST00000356709,NM_001197240.1,NM_006995.4;BTN2A2,missense_variant,p.Ile43Phe,ENST00000416795,NM_001197237.1;BTN2A2,missense_variant,p.Ile43Phe,ENST00000469230,NM_001197238.1;BTN2A2,missense_variant,p.Ile43Phe,ENST00000432533,;BTN2A2,missense_variant,p.Ile43Phe,ENST00000493275,;BTN2A2,missense_variant,p.Ile43Phe,ENST00000494184,;BTN2A2,intron_variant,,ENST00000352867,NM_181531.2,NM_001197239.1;BTN2A2,intron_variant,,ENST00000482536,;BTN2A2,intron_variant,,ENST00000490025,;BTN2A2,intron_variant,,ENST00000483410,;BTN2A2,intron_variant,,ENST00000482842,;BTN2A2,intron_variant,,ENST00000472507,;BTN2A2,non_coding_transcript_exon_variant,,ENST00000482636,;BTN2A2,intron_variant,,ENST00000467485,;BTN2A2,intron_variant,,ENST00000471116,;							MODERATE	127/1572	I43F	BT2A2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000349143		CCDS4606.1			1	
PHYHD1	0	LGGM	GRCh37	9	131702987	131702987	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	10	8	.	.	ENST00000308941.5:c.674G>A	p.Cys225Tyr	p.C225Y	ENST00000308941	NM_174933.3	225	tGc/tAc	0	1		UPI00001408AE	0		ENST00000372592		ENSG00000175287	23396		18			HGNC	p.C225Y		PHYHD1		SNV							ENST00000308941	protein_coding			hmmpanther:PTHR20883,Pfam_domain:PF05721,Gene3D:2.60.120.620,Superfamily_domains:SSF51197		V		A		1629/2133								PHYHD1,missense_variant,p.Cys225Tyr,ENST00000308941,NM_174933.3;PHYHD1,synonymous_variant,p.=,ENST00000372592,NM_001100876.1;PHYHD1,synonymous_variant,p.=,ENST00000353176,;PHYHD1,synonymous_variant,p.=,ENST00000421063,NM_001100877.1;PHYHD1,intron_variant,,ENST00000442837,;PHYHD1,intron_variant,,ENST00000419872,;DOLK,downstream_gene_variant,,ENST00000372586,NM_014908.3;PHYHD1,downstream_gene_variant,,ENST00000426694,;RP11-101E3.5,upstream_gene_variant,,ENST00000482796,;PHYHD1,non_coding_transcript_exon_variant,,ENST00000487504,;PHYHD1,3_prime_UTR_variant,,ENST00000412476,;PHYHD1,3_prime_UTR_variant,,ENST00000424503,;PHYHD1,downstream_gene_variant,,ENST00000451000,;							LOW	696/876		PHYD1_HUMAN			Transcript			.	ENSP00000361673		CCDS43885.1			1	
HIST1H1E	0	LGGM	GRCh37	6	26156926	26156926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	18	8	.	.	ENST00000304218.3:c.308G>T	p.Gly103Val	p.G103V	ENST00000304218	NM_005321.2	103	gGt/gTt	0	1	1	UPI0000000DB9	0	getma.org/pdb.php?prot=H14_HUMAN&from=36&to=109&var=G103V	ENST00000304218		ENSG00000168298	4718		26	4.355		HGNC	p.G103V		HIST1H1E		SNV							ENST00000304218	protein_coding	getma.org/?cm=var&var=hg19,6,26156926,G,T&fts=all		PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF16,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,Superfamily_domains:SSF46785,Prints_domain:PR00624		G/V		T	high	368/785		getma.org/?cm=msa&ty=f&p=H14_HUMAN&rb=36&re=109&var=G103V	deleterious(0)	A3R0T8_HUMAN			YES	HIST1H1E,missense_variant,p.Gly103Val,ENST00000304218,NM_005321.2;HIST1H2BD,upstream_gene_variant,,ENST00000289316,NM_138720.2;HIST1H2BD,upstream_gene_variant,,ENST00000377777,NM_021063.3;							MODERATE	308/660	G103V	H14_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307705		CCDS4586.1			1	
GJA3	0	LGGM	GRCh37	13	20716937	20716937	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	11	8	.	.	ENST00000241125.3:c.491T>C	p.Ile164Thr	p.I164T	ENST00000241125	NM_021954.3	164	aTc/aCc	0	1	1	UPI0000052BDE	0	getma.org/pdb.php?prot=CXA3_HUMAN&from=159&to=225&var=I164T	ENST00000241125		ENSG00000121743	4277		19	2.835		HGNC	p.I164T		GJA3		SNV			1				ENST00000241125	protein_coding	getma.org/?cm=var&var=hg19,13,20716937,A,G&fts=all		Gene3D:2zw3A00,Pfam_domain:PF10582,Prints_domain:PR00206,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF12,SMART_domains:SM01089,Transmembrane_helices:TMhelix		I/T		G	medium	668/5211		getma.org/?cm=msa&ty=f&p=CXA3_HUMAN&rb=159&re=225&var=I164T	deleterious(0)				YES	GJA3,missense_variant,p.Ile164Thr,ENST00000241125,NM_021954.3;							MODERATE	491/1308	I164T	CXA3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000241125		CCDS9289.1			1	
HMCN1	0	LGGM	GRCh37	1	186143737	186143737	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	44	8	.	.	ENST00000271588.4:c.15906A>G	p.Arg5302=	p.R5302=	ENST00000271588	NM_031935.2	5302	agA/agG	0	1	1	UPI0000458C0E	0		ENST00000271588		ENSG00000143341	19194		52			HGNC	p.R5302R		HMCN1		SNV			1				ENST00000367492	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		R		G		16135/18208							YES	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;HMCN1,synonymous_variant,p.=,ENST00000414277,;GS1-174L6.4,downstream_gene_variant,,ENST00000428391,;HMCN1,downstream_gene_variant,,ENST00000475585,;							LOW	15906/16908		HMCN1_HUMAN			Transcript			.	ENSP00000271588		CCDS30956.1			1	
COL14A1	0	LGGM	GRCh37	8	121216045	121216045	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	71	10	.	.	ENST00000297848.3:c.975A>G	p.Thr325=	p.T325=	ENST00000297848	NM_021110.2	325	acA/acG	0	1	1	UPI000046D377	0		ENST00000297848		ENSG00000187955	2191		81			HGNC	p.T138T		COL14A1		SNV			1				ENST00000434620	protein_coding			PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300		T		G		1245/6466							YES	COL14A1,synonymous_variant,p.=,ENST00000297848,NM_021110.2;COL14A1,synonymous_variant,p.=,ENST00000247781,;COL14A1,synonymous_variant,p.=,ENST00000309791,;COL14A1,synonymous_variant,p.=,ENST00000537875,;COL14A1,synonymous_variant,p.=,ENST00000434620,;COL14A1,synonymous_variant,p.=,ENST00000523142,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,synonymous_variant,p.=,ENST00000498051,;							LOW	975/5391		COEA1_HUMAN			Transcript			.	ENSP00000297848		CCDS34938.1			1	
TBC1D1	0	LGGM	GRCh37	4	38054756	38054756	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	24	10	.	.	ENST00000261439.4:c.1911-1064A>G		*637*	ENST00000261439	NM_015173.3			0	1	1	UPI0000367235	0		ENST00000261439		ENSG00000065882	11578		34			HGNC	p.K701R		TBC1D1		SNV							ENST00000508802	protein_coding							G		-/5700				H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN			YES	TBC1D1,missense_variant,p.Lys701Arg,ENST00000508802,NM_001253912.1;TBC1D1,intron_variant,,ENST00000261439,NM_015173.3,NM_001253914.1,NM_001253915.1;TBC1D1,intron_variant,,ENST00000446803,;TBC1D1,intron_variant,,ENST00000443855,;TBC1D1,intron_variant,,ENST00000421339,;TBC1D1,intron_variant,,ENST00000513936,;TBC1D1,non_coding_transcript_exon_variant,,ENST00000469803,;TBC1D1,downstream_gene_variant,,ENST00000509761,;TBC1D1,3_prime_UTR_variant,,ENST00000510573,;							MODIFIER	-/3507		TBCD1_HUMAN			Transcript			.	ENSP00000261439		CCDS33972.1			1	
SEPT4	0	LGGM	GRCh37	17	56598702	56598702	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	15	11	.	.	ENST00000457347.2:c.1072C>T	p.Pro358Ser	p.P358S	ENST00000457347	NM_001256782.1	358	Cca/Tca	0	1		UPI000013585C	0	getma.org/pdb.php?prot=SEPT4_HUMAN&from=141&to=421&var=P343S	ENST00000317268		ENSG00000108387	9165		26	3.585		HGNC	p.P335S		SEPT4		SNV							ENST00000412945	protein_coding	getma.org/?cm=var&var=hg19,17,56598702,G,A&fts=all		PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF2,Pfam_domain:PF00735,Superfamily_domains:SSF52540		P/S		A	high	1204/1784		getma.org/?cm=msa&ty=f&p=SEPT4_HUMAN&rb=141&re=421&var=P343S	deleterious(0)					SEPT4,missense_variant,p.Pro358Ser,ENST00000457347,NM_001256782.1;SEPT4,missense_variant,p.Pro343Ser,ENST00000317268,NM_004574.3;SEPT4,missense_variant,p.Pro196Ser,ENST00000583114,NM_001256822.1;SEPT4,missense_variant,p.Pro335Ser,ENST00000412945,NM_001198713.1;SEPT4,missense_variant,p.Pro324Ser,ENST00000393086,;SEPT4,missense_variant,p.Pro324Ser,ENST00000317256,NM_080416.2;SEPT4,missense_variant,p.Pro244Ser,ENST00000580844,;SEPT4,missense_variant,p.Pro244Ser,ENST00000579371,;SEPT4,3_prime_UTR_variant,,ENST00000426861,NM_080415.2;MTMR4,upstream_gene_variant,,ENST00000323456,NM_004687.4;MTMR4,upstream_gene_variant,,ENST00000579925,;SEPT4,downstream_gene_variant,,ENST00000580809,;SEPT4,downstream_gene_variant,,ENST00000583291,;SEPT4,downstream_gene_variant,,ENST00000577729,;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,,ENST00000581921,;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,,ENST00000581615,;MTMR4,upstream_gene_variant,,ENST00000582663,;SEPT4,downstream_gene_variant,,ENST00000578131,;							MODERATE	1027/1437	P343S	SEPT4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321674		CCDS11610.1			1	
CCDC13	0	LGGM	GRCh37	3	42777303	42777303	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	30	11	.	.	ENST00000310232.6:c.1267G>A	p.Ala423Thr	p.A423T	ENST00000310232	NM_144719.3	423	Gct/Act	0	1	1	UPI00001AEF4E	0	NA	ENST00000310232		ENSG00000244607	26358		41	2.24		HGNC	p.A423T		CCDC13		SNV							ENST00000310232	protein_coding	getma.org/?cm=var&var=hg19,3,42777303,C,T&fts=all		hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1		A/T		T	medium	1351/2943		getma.org/?cm=msa&ty=f&p=CCD13_HUMAN&rb=1&re=709&var=A423T	tolerated(0.24)				YES	CCDC13,missense_variant,p.Ala423Thr,ENST00000310232,NM_144719.3;CCDC13-AS1,intron_variant,,ENST00000418161,;CCDC13-AS1,intron_variant,,ENST00000446950,;CCDC13,upstream_gene_variant,,ENST00000496027,;CCDC13,upstream_gene_variant,,ENST00000472921,;							MODERATE	1267/2148	A423T	CCD13_HUMAN			Transcript		benign(0.028)	.	ENSP00000309836		CCDS2705.1			1	
SCNN1A	0	LGGM	GRCh37	12	6483563	6483563	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	20	11	.	.	ENST00000360168.3:c.564A>G	p.Ala188=	p.A188=	ENST00000360168	NM_001159576.1	188	gcA/gcG	0	1		UPI0000000DC4	0		ENST00000228916		ENSG00000111319	10599		31			HGNC	p.A152A		SCNN1A		SNV			1				ENST00000543768	protein_coding			hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,Pfam_domain:PF00858,Gene3D:2qtsA02,TIGRFAM_domain:TIGR00859,Prints_domain:PR01078		A		C		486/3135				F5GXE6_HUMAN				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.=,ENST00000543768,NM_001159575.1;SCNN1A,synonymous_variant,p.=,ENST00000396966,;SCNN1A,synonymous_variant,p.=,ENST00000536788,;LTBR,upstream_gene_variant,,ENST00000539925,NM_001270987.1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000544882,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000536176,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000543585,;SCNN1A,intron_variant,,ENST00000538979,;LTBR,upstream_gene_variant,,ENST00000546296,;SCNN1A,downstream_gene_variant,,ENST00000542260,;SCNN1A,downstream_gene_variant,,ENST00000536411,;SCNN1A,downstream_gene_variant,,ENST00000545605,;SCNN1A,downstream_gene_variant,,ENST00000538957,;SCNN1A,downstream_gene_variant,,ENST00000542436,;LTBR,upstream_gene_variant,,ENST00000542830,;SCNN1A,synonymous_variant,p.=,ENST00000338748,;							LOW	387/2010		SCNNA_HUMAN			Transcript			.	ENSP00000228916		CCDS8543.1			1	
TRIP12	0	LGGM	GRCh37	2	230723854	230723854	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	27	11	.	.	ENST00000283943.5:c.535G>T	p.Ala179Ser	p.A179S	ENST00000283943	NM_004238.1	179	Gct/Tct	0	1	1	UPI000013739D	0	NA	ENST00000283943		ENSG00000153827	12306		38	0.695		HGNC	p.A221S		TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230723854,C,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73,Low_complexity_(Seg):seg		A/S		A	neutral	714/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=1&re=384&var=A179S	deleterious_low_confidence(0.01)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Ala179Ser,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Ala221Ser,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Ala221Ser,ENST00000543084,;TRIP12,missense_variant,p.Ala221Ser,ENST00000409677,;TRIP12,missense_variant,p.Ala49Ser,ENST00000453485,;TRIP12,intron_variant,,ENST00000389045,NM_001284216.1;TRIP12,downstream_gene_variant,,ENST00000430954,;TRIP12,downstream_gene_variant,,ENST00000435716,;TRIP12,downstream_gene_variant,,ENST00000428959,;TRIP12,downstream_gene_variant,,ENST00000343290,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;							MODERATE	535/5979	A179S	TRIPC_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000283943		CCDS33391.1			1	
NIM1K	0	LGGM	GRCh37	5	43246107	43246107	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	32	12	.	.	ENST00000512796.1:c.230G>A	p.Arg77Gln	p.R77Q	ENST00000512796		77	cGa/cAa	0	1		UPI0000035B5F	0	getma.org/pdb.php?prot=NIM1_HUMAN&from=74&to=325&var=R77Q	ENST00000326035		ENSG00000177453	28646		44	-0.875		HGNC	p.R77Q	rs760522640	NIM1K		SNV							ENST00000512796	protein_coding	getma.org/?cm=var&var=hg19,5,43246107,G,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF106,PROSITE_profiles:PS50011		R/Q		A	neutral	1111/2313	1.50E-05	getma.org/?cm=msa&ty=f&p=NIM1_HUMAN&rb=74&re=325&var=R77Q	deleterious(0.05)					NIM1K,missense_variant,p.Arg77Gln,ENST00000512796,;NIM1K,missense_variant,p.Arg77Gln,ENST00000326035,NM_153361.3;NIM1K,downstream_gene_variant,,ENST00000509362,;NIM1K,downstream_gene_variant,,ENST00000513797,;NIM1K,downstream_gene_variant,,ENST00000440285,;							MODERATE	230/1311	R77Q	NIM1_HUMAN			Transcript		possibly_damaging(0.705)	.	ENSP00000313572	8.24E-06	CCDS3943.1			1	
EDAR	0	LGGM	GRCh37	2	109527507	109527507	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	21	12	.	.	ENST00000258443.2:c.551T>A	p.Leu184Gln	p.L184Q	ENST00000258443	NM_022336.3	184	cTg/cAg	0	1	1	UPI0000129BC4	0	NA	ENST00000258443		ENSG00000135960	2895		33	2.14		HGNC	p.L184Q		EDAR		SNV			1				ENST00000258443	protein_coding	getma.org/?cm=var&var=hg19,2,109527507,A,T&fts=all		hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF9		L/Q		T	medium	982/4214		getma.org/?cm=msa&ty=f&p=EDAR_HUMAN&rb=1&re=200&var=L184Q	deleterious(0.03)				YES	EDAR,missense_variant,p.Leu184Gln,ENST00000409271,;EDAR,missense_variant,p.Leu184Gln,ENST00000376651,;EDAR,missense_variant,p.Leu184Gln,ENST00000258443,NM_022336.3;							MODERATE	551/1347	L184Q	EDAR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000258443		CCDS2081.1			1	
NOS2	0	LGGM	GRCh37	17	26116702	26116702	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	22	12	.	.	ENST00000313735.6:c.123G>A	p.Gln41=	p.Q41=	ENST00000313735	NM_000625.4	41	caG/caA	0	1	1	UPI000011D645	0		ENST00000313735		ENSG00000007171	7873		34			HGNC	p.Q41Q		NOS2		SNV			1				ENST00000313735	protein_coding			PIRSF_domain:PIRSF000333		Q		T		357/4176				Q9UM94_HUMAN			YES	NOS2,synonymous_variant,p.=,ENST00000313735,NM_000625.4;							LOW	123/3462		NOS2_HUMAN			Transcript			.	ENSP00000327251		CCDS11223.1			1	
UCHL1	0	LGGM	GRCh37	4	41259131	41259131	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	42	13	.	.	ENST00000284440.4:c.34-1G>A		p.X12_splice	ENST00000284440	NM_004181.4			0	1	1	UPI00001379CA	0		ENST00000284440		ENSG00000154277	12513		55			HGNC	-		UCHL1		SNV			1				ENST00000514924	protein_coding							A		-/1172				D6RF53_HUMAN,A6NLJ7_HUMAN			YES	UCHL1,splice_acceptor_variant,,ENST00000284440,NM_004181.4;UCHL1,splice_acceptor_variant,,ENST00000503431,;UCHL1,splice_acceptor_variant,,ENST00000508768,;UCHL1,splice_acceptor_variant,,ENST00000512788,;UCHL1,splice_acceptor_variant,,ENST00000514924,;UCHL1-AS1,upstream_gene_variant,,ENST00000507190,;UCHL1-AS1,upstream_gene_variant,,ENST00000510073,;UCHL1,intron_variant,,ENST00000504818,;UCHL1,splice_acceptor_variant,,ENST00000381760,;UCHL1,splice_acceptor_variant,,ENST00000472501,;UCHL1,splice_acceptor_variant,,ENST00000505232,;UCHL1,intron_variant,,ENST00000512419,;UCHL1,upstream_gene_variant,,ENST00000514764,;UCHL1,upstream_gene_variant,,ENST00000510566,;							HIGH	34/672		UCHL1_HUMAN			Transcript			.	ENSP00000284440		CCDS3462.1			1	
ODC1	0	LGGM	GRCh37	2	10580980	10580980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	40	13	.	.	ENST00000234111.4:c.1256A>G	p.Gln419Arg	p.Q419R	ENST00000234111	NM_002539.1	419	cAa/cGa	0	1	1	UPI0000001283	0	getma.org/pdb.php?prot=DCOR_HUMAN&from=409&to=461&var=Q419R	ENST00000234111		ENSG00000115758	8109		53	1.905		HGNC	p.Q419R	COSM3564648	ODC1		SNV						1	ENST00000234111	protein_coding	getma.org/?cm=var&var=hg19,2,10580980,T,C&fts=all		hmmpanther:PTHR11482:SF42,hmmpanther:PTHR11482,Superfamily_domains:SSF50621		Q/R		C	medium	1767/2653		getma.org/?cm=msa&ty=f&p=DCOR_HUMAN&rb=409&re=461&var=Q419R	tolerated(0.37)	C9JG30_HUMAN			YES	ODC1,missense_variant,p.Gln419Arg,ENST00000234111,NM_002539.1,NM_001287190.1;ODC1,missense_variant,p.Gln419Arg,ENST00000405333,NM_001287189.1;ODC1,downstream_gene_variant,,ENST00000443218,;ODC1,downstream_gene_variant,,ENST00000446285,;					1		MODERATE	1256/1386	Q419R	DCOR_HUMAN			Transcript		benign(0.004)	.	ENSP00000234111		CCDS1672.1			1	
UGGT2	0	LGGM	GRCh37	13	96511883	96511883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	10	13	.	.	ENST00000376747.3:c.3787T>C	p.Phe1263Leu	p.F1263L	ENST00000376747	NM_020121.3	1263	Ttc/Ctc	0	1	1	UPI00001FC9AA	0	NA	ENST00000376747		ENSG00000102595	15664		23	3.165		HGNC	p.F1263L		UGGT2		SNV							ENST00000376747	protein_coding	getma.org/?cm=var&var=hg19,13,96511883,A,G&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1,Superfamily_domains:SSF53448		F/L		G	medium	3858/4832		getma.org/?cm=msa&ty=f&p=UGGG2_HUMAN&rb=1234&re=1472&var=F1263L	deleterious(0)				YES	UGGT2,missense_variant,p.Phe1263Leu,ENST00000376747,NM_020121.3;UGGT2,non_coding_transcript_exon_variant,,ENST00000462472,;UGGT2,downstream_gene_variant,,ENST00000476866,;							MODERATE	3787/4551	F1263L	UGGG2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000365938		CCDS9480.1			1	
WDR37	0	LGGM	GRCh37	10	1149590	1149590	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	23	14	.	.	ENST00000358220.1:c.775C>A	p.Leu259Ile	p.L259I	ENST00000358220		259	Ctc/Atc	0	1		UPI000013D3B7	0	NA	ENST00000263150		ENSG00000047056	31406		37	0		HGNC	p.L259I		WDR37		SNV							ENST00000358220	protein_coding	getma.org/?cm=var&var=hg19,10,1149590,C,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR19855,hmmpanther:PTHR19855:SF12		L/I		A	neutral	926/4462		getma.org/?cm=msa&ty=f&p=WDR37_HUMAN&rb=228&re=270&var=L259I	tolerated(0.21)	A8K976_HUMAN				WDR37,missense_variant,p.Leu259Ile,ENST00000358220,;WDR37,missense_variant,p.Leu259Ile,ENST00000263150,NM_014023.3;							MODERATE	775/1485	L259I	WDR37_HUMAN			Transcript		benign(0)	.	ENSP00000263150		CCDS7057.1			1	
TENM4	0	LGGM	GRCh37	11	78372569	78372569	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	22	14	.	.	ENST00000278550.7:c.7476A>C	p.Pro2492=	p.P2492=	ENST00000278550	NM_001098816.2	2492	ccA/ccC	0	1	1	UPI0000DD8112	0		ENST00000278550		ENSG00000149256	29945		36			HGNC	p.P2492P		TENM4		SNV							ENST00000278550	protein_coding			hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		P		G		7939/14000				G3CAT1_HUMAN			YES	TENM4,synonymous_variant,p.=,ENST00000278550,NM_001098816.2;TENM4,intron_variant,,ENST00000530738,;							LOW	7476/8310		TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
UNC13C	0	LGGM	GRCh37	15	54803979	54803979	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	18	14	.	.	ENST00000260323.11:c.5408A>T	p.Gln1803Leu	p.Q1803L	ENST00000260323	NM_001080534.1	1803	cAa/cTa	0	1	1	UPI0000DD82AB	0	getma.org/pdb.php?prot=UN13C_HUMAN&from=1647&to=1846&var=Q1803L	ENST00000260323		ENSG00000137766	23149		32	3.185		HGNC	p.Q1801L		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54803979,A,T&fts=all		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		Q/L		T	medium	5408/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1647&re=1846&var=Q1803L	deleterious_low_confidence(0)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Gln1803Leu,ENST00000545554,;UNC13C,missense_variant,p.Gln1801Leu,ENST00000537900,;UNC13C,missense_variant,p.Gln1803Leu,ENST00000260323,NM_001080534.1;UNC13C,missense_variant,p.Gln39Leu,ENST00000559093,;							MODERATE	5408/6645	Q1803L	UN13C_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000260323		CCDS45264.1			1	
FZD3	0	LGGM	GRCh37	8	28385382	28385382	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	41	15	.	.	ENST00000240093.3:c.1105G>A	p.Asp369Asn	p.D369N	ENST00000240093	NM_017412.3	369	Gat/Aat	0	1	1	UPI000003156A	0	NA	ENST00000240093		ENSG00000104290	4041		56	1.43		HGNC	p.D369N		FZD3		SNV							ENST00000537916	protein_coding	getma.org/?cm=var&var=hg19,8,28385382,G,A&fts=all		Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22		D/N		A	low	1583/13726		getma.org/?cm=msa&ty=f&p=FZD3_HUMAN&rb=192&re=517&var=D369N	deleterious(0.02)	E5RGI9_HUMAN			YES	FZD3,missense_variant,p.Asp369Asn,ENST00000240093,NM_017412.3;FZD3,missense_variant,p.Asp369Asn,ENST00000537916,NM_145866.1;RNA5SP259,upstream_gene_variant,,ENST00000365541,;							MODERATE	1105/2001	D369N	FZD3_HUMAN			Transcript		benign(0.055)	.	ENSP00000240093		CCDS6069.1			1	
DHX40	0	LGGM	GRCh37	17	57652744	57652744	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	15	15	.	.	ENST00000251241.4:c.885G>A	p.Met295Ile	p.M295I	ENST00000251241	NM_024612.4	295	atG/atA	0	1	1	UPI000006E150	0	getma.org/pdb.php?prot=DHX40_HUMAN&from=263&to=442&var=M295I	ENST00000251241		ENSG00000108406	18018		30	-0.625		HGNC	p.M295I		DHX40		SNV							ENST00000251241	protein_coding	getma.org/?cm=var&var=hg19,17,57652744,G,A&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF98,SMART_domains:SM00490,Superfamily_domains:SSF52540		M/I		A	neutral	1032/3660		getma.org/?cm=msa&ty=f&p=DHX40_HUMAN&rb=263&re=442&var=M295I	deleterious(0)				YES	DHX40,missense_variant,p.Met196Ile,ENST00000451169,;DHX40,missense_variant,p.Met295Ile,ENST00000251241,NM_024612.4;DHX40,missense_variant,p.Met218Ile,ENST00000425628,NM_001166301.1;DHX40,downstream_gene_variant,,ENST00000580030,;DHX40,upstream_gene_variant,,ENST00000538926,;DHX40,downstream_gene_variant,,ENST00000584385,;DHX40,downstream_gene_variant,,ENST00000580218,;DHX40,downstream_gene_variant,,ENST00000577596,;							MODERATE	885/2340	M295I	DHX40_HUMAN			Transcript		benign(0.002)	.	ENSP00000251241		CCDS11617.1			1	
PANK2	0	LGGM	GRCh37	20	3903923	3903923	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	35	15	.	.	ENST00000316562.4:c.1695G>T	p.Glu565Asp	p.E565D	ENST00000316562	NM_153638.2	565	gaG/gaT	0	1	1	UPI000036701A	0	getma.org/pdb.php?prot=PANK2_HUMAN&from=212&to=567&var=E565D	ENST00000316562		ENSG00000125779	15894		50	1.565		HGNC	p.E565D		PANK2		SNV			1				ENST00000316562	protein_coding	getma.org/?cm=var&var=hg19,20,3903923,G,T&fts=all		hmmpanther:PTHR12280:SF25,hmmpanther:PTHR12280,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067		E/D		T	low	1701/2280		getma.org/?cm=msa&ty=f&p=PANK2_HUMAN&rb=212&re=567&var=E565D	deleterious(0.02)	Q52M85_HUMAN,D3DVZ1_HUMAN,A4FU43_HUMAN			YES	PANK2,missense_variant,p.Glu274Asp,ENST00000497424,NM_024960.4,NM_153640.2;PANK2,missense_variant,p.Glu565Asp,ENST00000316562,NM_153638.2;PANK2,missense_variant,p.Glu442Asp,ENST00000610179,;RNF24,downstream_gene_variant,,ENST00000336095,NM_007219.3;PANK2,downstream_gene_variant,,ENST00000495692,;PANK2,3_prime_UTR_variant,,ENST00000336066,;							MODERATE	1695/1713	E565D	PANK2_HUMAN			Transcript		benign(0.019)	.	ENSP00000313377		CCDS13071.2			1	
ACOT12	0	LGGM	GRCh37	5	80659629	80659629	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	21	15	.	.	ENST00000307624.3:c.338C>A	p.Ala113Asp	p.A113D	ENST00000307624	NM_130767.2	113	gCc/gAc	0	1	1	UPI0000126D7B	0	getma.org/pdb.php?prot=ACO12_HUMAN&from=1&to=127&var=A113D	ENST00000307624		ENSG00000172497	24436		36	3.28		HGNC	p.A113D	rs754036561	ACOT12	6.08E-05	SNV							ENST00000307624	protein_coding	getma.org/?cm=var&var=hg19,5,80659629,G,T&fts=all		hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Gene3D:3.10.129.10,Superfamily_domains:SSF54637		A/D		T	medium	367/2086		getma.org/?cm=msa&ty=f&p=ACO12_HUMAN&rb=1&re=127&var=A113D	deleterious(0)				YES	ACOT12,missense_variant,p.Ala113Asp,ENST00000307624,NM_130767.2;ACOT12,missense_variant,p.Ala113Asp,ENST00000513751,;							MODERATE	338/1668	A113D	ACO12_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000303246	8.24E-06	CCDS4055.1			1	
SIDT1	0	LGGM	GRCh37	3	113323758	113323758	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	42	15	.	.	ENST00000264852.4:c.1339A>T	p.Asn447Tyr	p.N447Y	ENST00000264852	NM_017699.2	447	Aac/Tac	0	1	1	UPI000013D581	0	NA	ENST00000264852		ENSG00000072858	25967		57	1.57		HGNC	p.N447Y		SIDT1		SNV							ENST00000393830	protein_coding	getma.org/?cm=var&var=hg19,3,113323758,A,T&fts=all		Pfam_domain:PF13965,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15,Transmembrane_helices:TMhelix		N/Y		T	low	2065/5080		getma.org/?cm=msa&ty=f&p=SIDT1_HUMAN&rb=184&re=827&var=N447Y	tolerated(0.22)	B4E0H9_HUMAN			YES	SIDT1,missense_variant,p.Asn447Tyr,ENST00000264852,NM_017699.2;SIDT1,missense_variant,p.Asn447Tyr,ENST00000393830,;SIDT1,splice_region_variant,,ENST00000463226,;SIDT1,splice_region_variant,,ENST00000480746,;SIDT1,upstream_gene_variant,,ENST00000492863,;SIDT1,downstream_gene_variant,,ENST00000488390,;SIDT1,downstream_gene_variant,,ENST00000465803,;SIDT1,downstream_gene_variant,,ENST00000468728,;							MODERATE	1339/2484	N447Y	SIDT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264852		CCDS2974.1			1	
AKAP6	0	LGGM	GRCh37	14	33293259	33293259	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	27	15	.	.	ENST00000280979.4:c.6240G>C	p.Glu2080Asp	p.E2080D	ENST00000280979	NM_004274.4	2080	gaG/gaC	0	1	1	UPI000013DC48	0	NA	ENST00000280979		ENSG00000151320	376		42	2.175		HGNC	p.E2080D		AKAP6		SNV							ENST00000280979	protein_coding	getma.org/?cm=var&var=hg19,14,33293259,G,C&fts=all		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		E/D		C	medium	6410/8686		getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=E2080D	tolerated(0.08)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,missense_variant,p.Glu2080Asp,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							MODERATE	6240/6960	E2080D	AKAP6_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000280979		CCDS9644.1			1	
LRIG3	0	LGGM	GRCh37	12	59274411	59274411	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	35	16	.	.	ENST00000320743.3:c.1753A>T	p.Asn585Tyr	p.N585Y	ENST00000320743	NM_153377.4	585	Aat/Tat	0	1	1	UPI0000035BB5	0	getma.org/pdb.php?prot=LRIG3_HUMAN&from=499&to=599&var=N585Y	ENST00000320743		ENSG00000139263	30991		51	4		HGNC	p.N525Y		LRIG3		SNV							ENST00000379141	protein_coding	getma.org/?cm=var&var=hg19,12,59274411,T,A&fts=all		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		N/Y		A	high	2040/4070		getma.org/?cm=msa&ty=f&p=LRIG3_HUMAN&rb=499&re=599&var=N585Y	deleterious(0)	F8VYZ5_HUMAN			YES	LRIG3,missense_variant,p.Asn585Tyr,ENST00000320743,NM_153377.4;LRIG3,missense_variant,p.Asn525Tyr,ENST00000379141,NM_001136051.2;LRIG3,missense_variant,p.Asn585Tyr,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000547329,;LRIG3,upstream_gene_variant,,ENST00000552646,;							MODERATE	1753/3360	N585Y	LRIG3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000326759		CCDS8960.1			1	
MARK4	0	LGGM	GRCh37	19	45768152	45768152	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	25	16	.	.	ENST00000262891.4:c.476G>A	p.Arg159Gln	p.R159Q	ENST00000262891	NM_001199867.1	159	cGa/cAa	0	1	1	UPI0000044D47	0	getma.org/pdb.php?prot=MARK4_HUMAN&from=59&to=310&var=R159Q	ENST00000262891		ENSG00000007047	13538		41	1.125		HGNC	p.R159Q	rs565736296	MARK4	6.06E-05	SNV							ENST00000262891	protein_coding	getma.org/?cm=var&var=hg19,19,45768152,G,A&fts=all	A:0	Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/Q		A	low	807/3573		getma.org/?cm=msa&ty=f&p=MARK4_HUMAN&rb=59&re=310&var=R159Q	deleterious(0)	Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN	A:0	A:0	YES	MARK4,missense_variant,p.Arg159Gln,ENST00000300843,NM_031417.3;MARK4,missense_variant,p.Arg159Gln,ENST00000262891,NM_001199867.1;MARK4,missense_variant,p.Arg50Gln,ENST00000590909,;MARK4,missense_variant,p.Arg50Gln,ENST00000587566,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000588533,;MARK4,intron_variant,,ENST00000592762,;		A:0.0002					MODERATE	476/2259	R159Q	MARK4_HUMAN		A:0	Transcript		benign(0.101)	.	ENSP00000262891	8.24E-06	CCDS56097.1		A:0.001	1	
OR52N1	0	LGGM	GRCh37	11	5809347	5809347	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	26	16	.	.	ENST00000317078.1:c.700G>T	p.Asp234Tyr	p.D234Y	ENST00000317078	NM_001001913.1	234	Gat/Tat	0	1	1	UPI0000041BDD	0	NA	ENST00000317078		ENSG00000181001	14853		42	3.49		HGNC	p.D234Y		OR52N1		SNV							ENST00000317078	protein_coding	getma.org/?cm=var&var=hg19,11,5809347,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF107,Superfamily_domains:SSF81321		D/Y		A	medium	700/963		getma.org/?cm=msa&ty=f&p=O52N1_HUMAN&rb=141&re=288&var=D234Y	deleterious(0)				YES	OR52N1,missense_variant,p.Asp234Tyr,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	700/963	D234Y	O52N1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000322823		CCDS31398.1			1	
TTN	0	LGGM	GRCh37	2	179614748	179614748	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	41	16	.	.	ENST00000589042.1:c.11311+3103G>T		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		57	0		HGNC	p.E4127X		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179614748,C,A&fts=all						A	NA	-/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Glu4127Ter,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,;							MODIFIER	-/103053	E4129*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
R3HCC1L	0	LGGM	GRCh37	10	99968392	99968392	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	43	17	.	.	ENST00000298999.3:c.521A>G	p.Gln174Arg	p.Q174R	ENST00000298999	NM_014472.4	174	cAa/cGa	0	1	1	UPI00001F94F0	0	NA	ENST00000298999		ENSG00000166024	23512		60	1.995		HGNC	p.Q174R		R3HCC1L		SNV							ENST00000298999	protein_coding	getma.org/?cm=var&var=hg19,10,99968392,A,G&fts=all		hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF2		Q/R		G	medium	824/3379		getma.org/?cm=msa&ty=f&p=GIDRP_HUMAN&rb=1&re=569&var=Q174R	deleterious(0)				YES	R3HCC1L,missense_variant,p.Gln174Arg,ENST00000298999,NM_014472.4;R3HCC1L,missense_variant,p.Gln174Arg,ENST00000370584,NM_001256620.1,NM_138469.2;R3HCC1L,5_prime_UTR_variant,,ENST00000314594,NM_001256619.1;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;							MODERATE	521/2337	Q174R	R3HCL_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000298999		CCDS31267.1			1	
ALS2CR11	0	LGGM	GRCh37	2	202401042	202401042	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	28	17	.	.	ENST00000439140.1:c.1208T>C	p.Leu403Ser	p.L403S	ENST00000439140	NM_001168221.1	403	tTa/tCa	0	1		UPI000013DE33	0	NA	ENST00000286195		ENSG00000155754	14438		45	1.39		HGNC	p.L403S		ALS2CR11		SNV							ENST00000286195	protein_coding	getma.org/?cm=var&var=hg19,2,202401042,A,G&fts=all		hmmpanther:PTHR21665,hmmpanther:PTHR21665:SF2		L/S		G	low	1253/2104		getma.org/?cm=msa&ty=f&p=AL2SA_HUMAN&rb=1&re=621&var=L403S	deleterious(0)					ALS2CR11,missense_variant,p.Leu403Ser,ENST00000439140,NM_001168221.1;ALS2CR11,missense_variant,p.Leu403Ser,ENST00000450242,NM_001168217.1;ALS2CR11,missense_variant,p.Leu403Ser,ENST00000286195,NM_152525.5;ALS2CR11,intron_variant,,ENST00000439802,NM_001168216.1;							MODERATE	1208/1872	L403S	AL2SA_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000286195		CCDS2349.1			1	
LY75-CD302	0	LGGM	GRCh37	2	160636613	160636613	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	32	17	.	.	ENST00000259053.4:c.372A>C	p.Leu124Phe	p.L124F	ENST00000259053	NM_014880.4	124	ttA/ttC	0	1	1	UPI00018817E3	0	getma.org/pdb.php?prot=CD302_HUMAN&from=45&to=155&var=L124F	ENST00000504764		ENSG00000248672	38828		49	1.89		HGNC	p.L1709F		LY75-CD302		SNV							ENST00000553424	protein_coding	getma.org/?cm=var&var=hg19,2,160636613,T,G&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,Low_complexity_(Seg):seg,SMART_domains:SM00034,Superfamily_domains:SSF56436		L/F		G	low	5323/5650		getma.org/?cm=msa&ty=f&p=CD302_HUMAN&rb=45&re=155&var=L124F	deleterious(0.04)				YES	LY75-CD302,missense_variant,p.Leu1765Phe,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.Leu1765Phe,ENST00000554112,;LY75-CD302,missense_variant,p.Leu1709Phe,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.Leu1709Phe,ENST00000553424,;CD302,missense_variant,p.Leu124Phe,ENST00000259053,NM_014880.4,NM_001198764.1;CD302,intron_variant,,ENST00000429078,NM_001198763.1;CD302,non_coding_transcript_exon_variant,,ENST00000480212,;							MODERATE	5295/5622	L124F				Transcript		probably_damaging(0.997)	.	ENSP00000423463		CCDS56141.1			1	
CSMD3	0	LGGM	GRCh37	8	113314102	113314102	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	29	17	.	.	ENST00000297405.5:c.8360T>A	p.Leu2787Ter	p.L2787*	ENST00000297405	NM_198123.1	2787	tTg/tAg	0	1	1	UPI00001E0584	0	NA	ENST00000297405		ENSG00000164796	19291		46	0		HGNC	p.L2618X		CSMD3		SNV							ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113314102,A,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00032,Superfamily_domains:SSF57535		L/*		T	NA	8605/13212		NA					YES	CSMD3,stop_gained,p.Leu2787Ter,ENST00000297405,NM_198123.1;CSMD3,stop_gained,p.Leu2747Ter,ENST00000343508,NM_198124.1;CSMD3,stop_gained,p.Leu2717Ter,ENST00000352409,;CSMD3,stop_gained,p.Leu2618Ter,ENST00000455883,NM_052900.2;CSMD3,stop_gained,p.Leu2057Ter,ENST00000339701,;							HIGH	8360/11124	L2787*	CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
TGFA	0	LGGM	GRCh37	2	70680423	70680423	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	32	17	.	.	ENST00000295400.6:c.402G>T	p.Arg134=	p.R134=	ENST00000295400	NM_001099691.2	134	cgG/cgT	0	1	1	UPI0000006BEF	0		ENST00000295400		ENSG00000163235	11765		49			HGNC	p.R140R		TGFA		SNV			1				ENST00000444975	protein_coding			hmmpanther:PTHR10740:SF1,hmmpanther:PTHR10740		R		A		650/4310				Q9UQ91_HUMAN,Q9UIS3_HUMAN,Q6QBS1_HUMAN			YES	TGFA,synonymous_variant,p.=,ENST00000295400,NM_001099691.2,NM_003236.3;TGFA,synonymous_variant,p.=,ENST00000418333,;TGFA,synonymous_variant,p.=,ENST00000444975,;TGFA,synonymous_variant,p.=,ENST00000450929,;TGFA,synonymous_variant,p.=,ENST00000445399,;TGFA,synonymous_variant,p.=,ENST00000419940,;TGFA,downstream_gene_variant,,ENST00000394241,;AC017084.1,downstream_gene_variant,,ENST00000401177,;TGFA,downstream_gene_variant,,ENST00000460808,;							LOW	402/483		TGFA_HUMAN			Transcript			.	ENSP00000295400		CCDS1905.1			1	
SNAPC5	0	LGGM	GRCh37	15	66787669	66787669	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	19	17	.	.	ENST00000316634.5:c.179A>T	p.Asp60Val	p.D60V	ENST00000316634		60	gAt/gTt	0	1	1	UPI0000135B25	0		ENST00000316634		ENSG00000174446	15484		36			HGNC	p.D60V		SNAPC5		SNV							ENST00000316634	protein_coding			hmmpanther:PTHR15333:SF2,hmmpanther:PTHR15333,Pfam_domain:PF15497		D/V		A		261/1002			tolerated_low_confidence(0.1)				YES	SNAPC5,missense_variant,p.Asp60Val,ENST00000316634,;SNAPC5,missense_variant,p.Asp60Val,ENST00000563480,;SNAPC5,missense_variant,p.Asp60Val,ENST00000395589,NM_006049.2;SNAPC5,intron_variant,,ENST00000307979,;SNAPC5,intron_variant,,ENST00000566658,;MAP2K1,downstream_gene_variant,,ENST00000307102,NM_002755.3;RPL4,downstream_gene_variant,,ENST00000307961,NM_000968.3;RPL4,downstream_gene_variant,,ENST00000568588,;MAP2K1,downstream_gene_variant,,ENST00000566326,;RPL4,downstream_gene_variant,,ENST00000569696,;MIR4512,downstream_gene_variant,,ENST00000583257,;CTD-3185P2.1,upstream_gene_variant,,ENST00000565387,;RPL4,downstream_gene_variant,,ENST00000563473,;RPL4,downstream_gene_variant,,ENST00000565723,;SNAPC5,missense_variant,p.Asp60Val,ENST00000568875,;SNAPC5,missense_variant,p.Asp60Val,ENST00000562411,;SNAPC5,splice_region_variant,,ENST00000565465,;RPL4,downstream_gene_variant,,ENST00000567229,;RPL4,downstream_gene_variant,,ENST00000561775,;RPL4,downstream_gene_variant,,ENST00000564647,;RPL4,downstream_gene_variant,,ENST00000564744,;							MODERATE	179/297		SNPC5_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000319597		CCDS10217.1			1	
PTCHD4	0	LGGM	GRCh37	6	47847624	47847624	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	39	17	.	.	ENST00000339488.4:c.956C>A	p.Thr319Asn	p.T319N	ENST00000339488	NM_001013732.3	319	aCc/aAc	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		56	2.505		HGNC	p.T319N		PTCHD4		SNV							ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,47847624,G,T&fts=all		PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866		T/N		T	medium	990/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=233&re=392&var=T319N	deleterious(0)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Thr319Asn,ENST00000339488,NM_001013732.3;							MODERATE	956/2541	T319N	PTHD4_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000341914		CCDS34473.2			1	
CDCP1	0	LGGM	GRCh37	3	45136995	45136995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	23	18	.	.	ENST00000296129.1:c.1090G>T	p.Val364Phe	p.V364F	ENST00000296129	NM_022842.4	364	Gtc/Ttc	0	1	1	UPI000013E304	0	NA	ENST00000296129		ENSG00000163814	24357		41	0.205		HGNC	p.V364F		CDCP1		SNV							ENST00000296129	protein_coding	getma.org/?cm=var&var=hg19,3,45136995,C,A&fts=all		hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0		V/F		A	neutral	1225/6006		getma.org/?cm=msa&ty=f&p=CDCP1_HUMAN&rb=61&re=834&var=V364F	tolerated(0.71)				YES	CDCP1,missense_variant,p.Val364Phe,ENST00000296129,NM_022842.4;							MODERATE	1090/2511	V364F	CDCP1_HUMAN			Transcript		benign(0.011)	.	ENSP00000296129		CCDS2727.1			1	
PCDHB16	0	LGGM	GRCh37	5	140562931	140562931	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	39	18	.	.	ENST00000361016.2:c.797C>T	p.Ala266Val	p.A266V	ENST00000361016	NM_020957.1	266	gCc/gTc	0	1	1	UPI000006D372	0	getma.org/pdb.php?prot=PCDBG_HUMAN&from=247&to=338&var=A266V	ENST00000361016		ENSG00000196963	14546		57	3.835		HGNC	p.A266V		PCDHB16		SNV							ENST00000361016	protein_coding	getma.org/?cm=var&var=hg19,5,140562931,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/V		T	high	1952/4814		getma.org/?cm=msa&ty=f&p=PCDBG_HUMAN&rb=247&re=338&var=A266V	deleterious_low_confidence(0)				YES	PCDHB16,missense_variant,p.Ala266Val,ENST00000361016,NM_020957.1;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.3;PCDHB9,upstream_gene_variant,,ENST00000316105,;							MODERATE	797/2331	A266V	PCDBG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354293		CCDS4251.1			1	
DPYSL4	0	LGGM	GRCh37	10	134015533	134015533	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	25	18	.	.	ENST00000338492.4:c.1194G>A	p.Lys398=	p.K398=	ENST00000338492	NM_006426.2	398	aaG/aaA	0	1	1	UPI000013DC70	0		ENST00000338492		ENSG00000151640	3016		43			HGNC	p.K398K		DPYSL4		SNV							ENST00000338492	protein_coding			hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,Gene3D:2.30.40.10,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Superfamily_domains:SSF51338,Superfamily_domains:SSF51556		K		A		1358/2729				D3DRG7_HUMAN			YES	DPYSL4,synonymous_variant,p.=,ENST00000338492,NM_006426.2;DPYSL4,synonymous_variant,p.=,ENST00000368629,;DPYSL4,synonymous_variant,p.=,ENST00000368627,;DPYSL4,upstream_gene_variant,,ENST00000471544,;							LOW	1194/1719		DPYL4_HUMAN			Transcript			.	ENSP00000339850		CCDS7665.1			1	
TMCO4	0	LGGM	GRCh37	1	20021013	20021013	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	31	19	.	.	ENST00000294543.6:c.1414A>C	p.Thr472Pro	p.T472P	ENST00000294543	NM_181719.4	472	Aca/Cca	0	1	1	UPI0000197EC6	0	NA	ENST00000294543		ENSG00000162542	27393		50	1.68		HGNC	p.T472P		TMCO4		SNV							ENST00000294543	protein_coding	getma.org/?cm=var&var=hg19,1,20021013,T,G&fts=all		Pfam_domain:PF05277,hmmpanther:PTHR17920		T/P		G	low	1656/2974		getma.org/?cm=msa&ty=f&p=TMCO4_HUMAN&rb=185&re=521&var=T472P	deleterious(0.03)	Q6ZSC6_HUMAN			YES	TMCO4,missense_variant,p.Thr472Pro,ENST00000294543,NM_181719.4;TMCO4,missense_variant,p.Thr432Pro,ENST00000375122,;TMCO4,missense_variant,p.Thr472Pro,ENST00000375127,;TMCO4,non_coding_transcript_exon_variant,,ENST00000489814,;TMCO4,non_coding_transcript_exon_variant,,ENST00000494342,;							MODERATE	1414/1905	T472P	TMCO4_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000294543		CCDS198.1			1	
MSRB3	0	LGGM	GRCh37	12	65856965	65856965	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	41	19	.	.	ENST00000355192.3:c.442G>A	p.Asp148Asn	p.D148N	ENST00000355192	NM_198080.3	148	Gat/Aat	0	1	1	UPI0000051E32	0	getma.org/pdb.php?prot=MSRB3_HUMAN&from=47&to=169&var=D148N	ENST00000355192		ENSG00000174099	27375		60	3.995		HGNC	p.D148N		MSRB3		SNV			1				ENST00000355192	protein_coding	getma.org/?cm=var&var=hg19,12,65856965,G,A&fts=all		Superfamily_domains:SSF51316,Gene3D:2.170.150.20,Pfam_domain:PF01641,TIGRFAM_domain:TIGR00357,hmmpanther:PTHR10173:SF24,hmmpanther:PTHR10173,HAMAP:MF_01400		D/N		A	high	568/4289		getma.org/?cm=msa&ty=f&p=MSRB3_HUMAN&rb=47&re=169&var=D148N	deleterious(0.02)	Q6MZU8_HUMAN			YES	MSRB3,missense_variant,p.Asp141Asn,ENST00000308259,NM_001193460.1,NM_001031679.2;MSRB3,missense_variant,p.Asp148Asn,ENST00000355192,NM_198080.3;MSRB3,missense_variant,p.Asp141Asn,ENST00000535664,;MSRB3,missense_variant,p.Asp141Asn,ENST00000535239,NM_001193461.1;MSRB3,intron_variant,,ENST00000541189,;MSRB3,intron_variant,,ENST00000446731,;RP11-230G5.2,downstream_gene_variant,,ENST00000537250,;MSRB3,non_coding_transcript_exon_variant,,ENST00000535143,;MSRB3,3_prime_UTR_variant,,ENST00000541897,;							MODERATE	442/579	D148N	MSRB3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347324		CCDS8973.1			1	
PLEKHA6	0	LGGM	GRCh37	1	204228500	204228500	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	49	19	.	.	ENST00000272203.3:c.893G>T	p.Ser298Ile	p.S298I	ENST00000272203	NM_014935.4	298	aGt/aTt	0	1	1	UPI000013D935	0	NA	ENST00000272203		ENSG00000143850	17053		68	1.79		HGNC	p.S318I		PLEKHA6		SNV							ENST00000414478	protein_coding	getma.org/?cm=var&var=hg19,1,204228500,C,A&fts=all		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF5		S/I		A	low	1210/7401		getma.org/?cm=msa&ty=f&p=PKHA6_HUMAN&rb=159&re=358&var=S298I	deleterious(0)				YES	PLEKHA6,missense_variant,p.Ser298Ile,ENST00000272203,NM_014935.4;PLEKHA6,missense_variant,p.Ser318Ile,ENST00000414478,;PLEKHA6,downstream_gene_variant,,ENST00000485632,;							MODERATE	893/3147	S298I	PKHA6_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000272203		CCDS1444.1			1	
SLC25A25	0	LGGM	GRCh37	9	130869647	130869647	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	41	19	.	.	ENST00000373068.2:c.1436A>T	p.Lys479Met	p.K479M	ENST00000373068	NM_001006641.3	479	aAg/aTg	0	1		UPI0000367685	0	getma.org/pdb.php?prot=SCMC2_HUMAN&from=373&to=468&var=K445M	ENST00000373064		ENSG00000148339	20663		60	3.8		HGNC	p.K465M		SLC25A25		SNV							ENST00000432073	protein_coding	getma.org/?cm=var&var=hg19,9,130869647,A,T&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089:SF222,hmmpanther:PTHR24089,PROSITE_profiles:PS50920		K/M		T	high	1597/3474		getma.org/?cm=msa&ty=f&p=SCMC2_HUMAN&rb=373&re=468&var=K445M	deleterious(0)					SLC25A25,missense_variant,p.Lys477Met,ENST00000373066,NM_001265614.2;SLC25A25,missense_variant,p.Lys465Met,ENST00000432073,NM_001006642.3;SLC25A25,missense_variant,p.Lys445Met,ENST00000373064,NM_052901.4;SLC25A25,missense_variant,p.Lys479Met,ENST00000373068,NM_001006641.3;SLC25A25,missense_variant,p.Lys491Met,ENST00000373069,;SLC25A25,missense_variant,p.Lys342Met,ENST00000433501,;SLC25A25,3_prime_UTR_variant,,ENST00000466983,;RP11-395P17.3,downstream_gene_variant,,ENST00000418747,;RP11-395P17.11,downstream_gene_variant,,ENST00000602939,;SLC25A25,downstream_gene_variant,,ENST00000445012,;SLC25A25,downstream_gene_variant,,ENST00000472769,;							MODERATE	1334/1410	K445M	SCMC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362155		CCDS6890.1			1	
OR6A2	0	LGGM	GRCh37	11	6816766	6816766	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	49	20	.	.	ENST00000332601.3:c.174A>G	p.Lys58=	p.K58=	ENST00000332601	NM_003696.2	58	aaA/aaG	0	1	1	UPI0000061E92	0		ENST00000332601		ENSG00000184933	15301		69			HGNC	p.K58K		OR6A2		SNV							ENST00000332601	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF234,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		K		C		363/1373							YES	OR6A2,synonymous_variant,p.=,ENST00000332601,NM_003696.2;							LOW	174/984		OR6A2_HUMAN			Transcript			.	ENSP00000330384		CCDS7772.1			1	
ZBTB21	0	LGGM	GRCh37	21	43413987	43413987	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	18	21	.	.	ENST00000310826.5:c.218A>T	p.Asp73Val	p.D73V	ENST00000310826	NM_001098402.1	73	gAc/gTc	0	1	1	UPI000013C34D	0	getma.org/pdb.php?prot=ZN295_HUMAN&from=20&to=124&var=D73V	ENST00000310826		ENSG00000173276	13083		39	1.745		HGNC	p.D73V		ZBTB21		SNV							ENST00000398499	protein_coding	getma.org/?cm=var&var=hg19,21,43413987,T,A&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF8,SMART_domains:SM00225,Superfamily_domains:SSF54695		D/V		A	low	402/7449		getma.org/?cm=msa&ty=f&p=ZN295_HUMAN&rb=20&re=124&var=D73V	deleterious(0)	Q5KS07_HUMAN,E7EVF9_HUMAN			YES	ZBTB21,missense_variant,p.Asp73Val,ENST00000310826,NM_001098402.1;ZBTB21,missense_variant,p.Asp73Val,ENST00000398505,NM_001098403.1;ZBTB21,missense_variant,p.Asp73Val,ENST00000398499,;ZBTB21,missense_variant,p.Asp73Val,ENST00000398511,NM_020727.4;ZBTB21,missense_variant,p.Asp73Val,ENST00000425521,;ZBTB21,downstream_gene_variant,,ENST00000398497,;ZBTB21,downstream_gene_variant,,ENST00000449949,;ZBTB21,intron_variant,,ENST00000465968,;							MODERATE	218/3201	D73V	ZBT21_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308759		CCDS13678.1			1	
KLK4	0	LGGM	GRCh37	19	51411654	51411654	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	44	21	.	.	ENST00000324041.1:c.573C>A	p.Phe191Leu	p.F191L	ENST00000324041	NM_004917.3	191	ttC/ttA	0	1	1	UPI0000037168	0	getma.org/pdb.php?prot=KLK4_HUMAN&from=31&to=247&var=F191L	ENST00000324041		ENSG00000167749	6365		65	-0.6		HGNC	p.F191L		KLK4		SNV			1				ENST00000324041	protein_coding	getma.org/?cm=var&var=hg19,19,51411654,G,T&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF12,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		F/L		T	neutral	573/1347		getma.org/?cm=msa&ty=f&p=KLK4_HUMAN&rb=31&re=247&var=F191L	tolerated(0.39)	Q96RU5_HUMAN,Q96PT1_HUMAN,Q96JD9_HUMAN			YES	KLK4,missense_variant,p.Phe191Leu,ENST00000324041,NM_004917.3;KLK4,intron_variant,,ENST00000431178,;KLK4,upstream_gene_variant,,ENST00000597441,;KLK4,3_prime_UTR_variant,,ENST00000598305,;KLK4,3_prime_UTR_variant,,ENST00000602148,;KLK4,3_prime_UTR_variant,,ENST00000593885,;KLK4,non_coding_transcript_exon_variant,,ENST00000596876,;KLK4,non_coding_transcript_exon_variant,,ENST00000599865,;							MODERATE	573/765	F191L	KLK4_HUMAN			Transcript		benign(0.041)	.	ENSP00000326159		CCDS12809.1			1	
CDK12	0	LGGM	GRCh37	17	37627357	37627357	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	32	22	.	.	ENST00000447079.4:c.1272T>C	p.Pro424=	p.P424=	ENST00000447079	NM_015083.1	424	ccT/ccC	0	1	1	UPI000013E688	0		ENST00000447079		ENSG00000167258	24224		54			HGNC	p.P424P	rs750538654	CDK12		SNV							ENST00000430627	protein_coding					P		C		1305/8336							YES	CDK12,synonymous_variant,p.=,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,synonymous_variant,p.=,ENST00000430627,;CDK12,synonymous_variant,p.=,ENST00000584632,;CDK12,upstream_gene_variant,,ENST00000581593,;	0.000116						LOW	1272/4473		CDK12_HUMAN			Transcript			.	ENSP00000398880	8.24E-06	CCDS11337.1			1	
DDC8	0	LGGM	GRCh37	17	76886741	76886741	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	45	22	.	.	ENST00000322630.2:c.1845G>T	p.Arg615=	p.R615=	ENST00000322630	NM_001243540.1	615	cgG/cgT	0	1	1	UPI0000071A46	0		ENST00000322630		ENSG00000178404			67			Uniprot_gn	p.R615R		DDC8		SNV							ENST00000322630	protein_coding			hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF2		R		A		2011/2090							YES	DDC8,synonymous_variant,p.=,ENST00000322630,NM_001243540.1,NM_001243541.1;TIMP2,intron_variant,,ENST00000262768,NM_003255.4;TIMP2,intron_variant,,ENST00000536189,;DDC8,intron_variant,,ENST00000586713,;DDC8,downstream_gene_variant,,ENST00000590267,;DDC8,downstream_gene_variant,,ENST00000587052,;							LOW	1845/1866		DDC8_HUMAN			Transcript			.	ENSP00000312767		CCDS58603.1			1	
MRPS30	0	LGGM	GRCh37	5	44811165	44811165	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	38	23	.	.	ENST00000507110.1:c.656G>A	p.Arg219His	p.R219H	ENST00000507110	NM_016640.3	219	cGt/cAt	0	1	1	UPI000013C944	0	NA	ENST00000507110		ENSG00000112996	8769		61	1.3		HGNC	p.R219H	rs368376102,COSM1068468,COSM1154464	MRPS30		SNV	A:0					0,1,1	ENST00000507110	protein_coding	getma.org/?cm=var&var=hg19,5,44811165,G,A&fts=all		hmmpanther:PTHR13014,hmmpanther:PTHR13014:SF2,Pfam_domain:PF07147		R/H	A:0.0001	A	low	694/1678	1.50E-05	getma.org/?cm=msa&ty=f&p=RT30_HUMAN&rb=1&re=429&var=R219H	tolerated(0.3)				YES	MRPS30,missense_variant,p.Arg219His,ENST00000507110,NM_016640.3;RP11-53O19.1,upstream_gene_variant,,ENST00000503179,;RP11-53O19.1,upstream_gene_variant,,ENST00000503452,;RP11-53O19.1,upstream_gene_variant,,ENST00000505401,;RP11-53O19.1,upstream_gene_variant,,ENST00000514597,;RP11-53O19.1,upstream_gene_variant,,ENST00000508123,;RP11-53O19.1,upstream_gene_variant,,ENST00000505302,;RP11-53O19.1,upstream_gene_variant,,ENST00000508945,;RP11-53O19.1,upstream_gene_variant,,ENST00000505637,;MRPS30,non_coding_transcript_exon_variant,,ENST00000515647,;MRPS30,upstream_gene_variant,,ENST00000230914,;MRPS30,upstream_gene_variant,,ENST00000508129,;					0,1,1		MODERATE	656/1320	R219H	RT30_HUMAN			Transcript		benign(0.004)	.	ENSP00000424328	8.24E-06	CCDS3951.1			1	
ANKRD36	0	LGGM	GRCh37	2	97871801	97871801	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	70	23	.	.	ENST00000420699.2:c.3092C>T	p.Ala1031Val	p.A1031V	ENST00000420699	NM_001164315.1	1031	gCt/gTt	0	1	1	UPI0001B23BB4	0	NA	ENST00000420699		ENSG00000135976	24079		93	1.04		HGNC	p.A1031V		ANKRD36		SNV							ENST00000461153	protein_coding	getma.org/?cm=var&var=hg19,2,97871801,C,T&fts=all		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1		A/V		T	low	3336/6269		getma.org/?cm=msa&ty=f&p=AN36A_HUMAN&rb=267&re=1470&var=A1031V	tolerated_low_confidence(0.13)				YES	ANKRD36,missense_variant,p.Ala1031Val,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Ala1031Val,ENST00000461153,;							MODERATE	3092/5826	A1031V	AN36A_HUMAN			Transcript		unknown(0)	.	ENSP00000391950		CCDS54379.1			1	
APOB	0	LGGM	GRCh37	2	21252584	21252584	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	53	23	.	.	ENST00000233242.1:c.1544A>G	p.Gln515Arg	p.Q515R	ENST00000233242	NM_000384.2	515	cAa/cGa	0	1	1	UPI0000141B94	0	getma.org/pdb.php?prot=APOB_HUMAN&from=46&to=598&var=Q515R	ENST00000233242		ENSG00000084674	603		76	-0.6		HGNC	p.Q515R		APOB		SNV			1				ENST00000399256	protein_coding	getma.org/?cm=var&var=hg19,2,21252584,T,C&fts=all		PROSITE_profiles:PS51211,hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA02,Pfam_domain:PF01347,SMART_domains:SM00638,Superfamily_domains:0040642		Q/R		C	neutral	1672/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=46&re=598&var=Q515R		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Gln515Arg,ENST00000233242,NM_000384.2;APOB,missense_variant,p.Gln515Arg,ENST00000399256,;							MODERATE	1544/13692	Q515R	APOB_HUMAN			Transcript		benign(0.002)	.	ENSP00000233242		CCDS1703.1			1	
LAMA1	0	LGGM	GRCh37	18	6959371	6959371	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	26	23	.	.	ENST00000389658.3:c.7747G>T	p.Ala2583Ser	p.A2583S	ENST00000389658	NM_005559.3	2583	Gcg/Tcg	0	1	1	UPI00001C1FF9	0	getma.org/pdb.php?prot=LAMA1_HUMAN&from=2514&to=2658&var=A2583S	ENST00000389658		ENSG00000101680	6481		49	0.345		HGNC	p.A2583S		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,6959371,C,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		A/S		A	neutral	7841/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=2514&re=2658&var=A2583S	deleterious(0)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Ala2583Ser,ENST00000389658,NM_005559.3;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,upstream_gene_variant,,ENST00000492048,;LAMA1,downstream_gene_variant,,ENST00000490190,;							MODERATE	7747/9228	A2583S	LAMA1_HUMAN			Transcript		benign(0.158)	.	ENSP00000374309		CCDS32787.1			1	
SLA	0	LGGM	GRCh37	8	134072404	134072404	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	80	23	.	.	ENST00000427060.2:c.122T>G	p.Met41Arg	p.M41R	ENST00000427060	NM_006748.3	41	aTg/aGg	0	1		UPI000004B144	0	NA	ENST00000338087		ENSG00000155926	10902		103	0		HGNC	p.M1R		SLA		SNV							ENST00000521302	protein_coding	getma.org/?cm=var&var=hg19,8,134072404,A,C&fts=all		hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF4		M/R		C	NA	822/3447		http://getma.org/?cm=msa&ty=f&p=SLAP1_HUMAN&rb=1&re=59&var=M1R	deleterious(0)	Q6FI01_HUMAN,E5RK95_HUMAN,E5RK29_HUMAN,E5RJ69_HUMAN,E5RHT2_HUMAN,E5RGG0_HUMAN,B7Z4L6_HUMAN				SLA,start_lost,p.Met1?,ENST00000338087,NM_001045556.2;SLA,start_lost,p.Met1?,ENST00000519341,;SLA,start_lost,p.Met1?,ENST00000522119,;SLA,start_lost,p.Met1?,ENST00000521302,;SLA,start_lost,p.Met1?,ENST00000523610,;SLA,start_lost,p.Met1?,ENST00000519558,;SLA,start_lost,p.Met1?,ENST00000519747,;SLA,missense_variant,p.Met18Arg,ENST00000395352,NM_001045557.2;SLA,missense_variant,p.Met41Arg,ENST00000427060,NM_006748.3;SLA,missense_variant,p.Met18Arg,ENST00000517648,NM_001282964.1;TG,intron_variant,,ENST00000220616,NM_003235.4;TG,intron_variant,,ENST00000377869,;TG,intron_variant,,ENST00000519178,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000519543,;SLA,intron_variant,,ENST00000524345,NM_001282965.1;SLA,non_coding_transcript_exon_variant,,ENST00000518565,;SLA,non_coding_transcript_exon_variant,,ENST00000522002,;SLA,intron_variant,,ENST00000521823,;SLA,downstream_gene_variant,,ENST00000522946,;SLA,start_lost,p.Met1?,ENST00000522432,;SLA,non_coding_transcript_exon_variant,,ENST00000523224,;SLA,non_coding_transcript_exon_variant,,ENST00000520106,;SLA,non_coding_transcript_exon_variant,,ENST00000518594,;SLA,non_coding_transcript_exon_variant,,ENST00000519504,;TG,intron_variant,,ENST00000523756,;							HIGH	2/831	M1R	SLAP1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000337548		CCDS6370.1			1	
PCDHA9	0	LGGM	GRCh37	5	140229994	140229994	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	36	23	.	.	ENST00000532602.1:c.1914C>A	p.Asp638Glu	p.D638E	ENST00000532602	NM_031857.1	638	gaC/gaA	0	1	1	UPI00001273D1	0	getma.org/pdb.php?prot=PCDA9_HUMAN&from=583&to=670&var=D638E	ENST00000532602		ENSG00000204961	8675		59	2.22		HGNC	p.D638E		PCDHA9		SNV							ENST00000378122	protein_coding	getma.org/?cm=var&var=hg19,5,140229994,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/E		A	medium	2947/6293		getma.org/?cm=msa&ty=f&p=PCDA9_HUMAN&rb=583&re=670&var=D638E	tolerated_low_confidence(0.24)				YES	PCDHA9,missense_variant,p.Asp638Glu,ENST00000378122,NM_014005.3;PCDHA9,missense_variant,p.Asp638Glu,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;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,;							MODERATE	1914/2853	D638E	PCDA9_HUMAN			Transcript		benign(0.129)	.	ENSP00000436042		CCDS54920.1			1	
SEMA6C	0	LGGM	GRCh37	1	151107290	151107290	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	31	24	.	.	ENST00000368913.3:c.1642A>G	p.Ile548Val	p.I548V	ENST00000368913	NM_001178061.1	548	Atc/Gtc	0	1		UPI000015FC79	0	getma.org/pdb.php?prot=SEM6C_HUMAN&from=518&to=579&var=I548V	ENST00000341697		ENSG00000143434	10740		55	0.035		HGNC	p.I548V		SEMA6C		SNV							ENST00000368914	protein_coding	getma.org/?cm=var&var=hg19,1,151107290,T,C&fts=all		Gene3D:3.30.1680.10,Pfam_domain:PF01437,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11		I/V		C	neutral	3334/5262		getma.org/?cm=msa&ty=f&p=SEM6C_HUMAN&rb=518&re=579&var=I548V	tolerated(0.75)	Q9UFI1_HUMAN,O60650_HUMAN				SEMA6C,missense_variant,p.Ile548Val,ENST00000341697,;SEMA6C,missense_variant,p.Ile548Val,ENST00000368914,NM_030913.4;SEMA6C,missense_variant,p.Ile548Val,ENST00000368913,NM_001178061.1;SEMA6C,missense_variant,p.Ile508Val,ENST00000368912,NM_001178062.1;RP11-68I18.10,upstream_gene_variant,,ENST00000563624,;SEMA6C,non_coding_transcript_exon_variant,,ENST00000464018,;SEMA6C,non_coding_transcript_exon_variant,,ENST00000489944,;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,downstream_gene_variant,,ENST00000485745,;							MODERATE	1642/2793	I548V	SEM6C_HUMAN			Transcript		benign(0.024)	.	ENSP00000344148		CCDS984.1			1	
WDR17	0	LGGM	GRCh37	4	177041120	177041120	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	60	24	.	.	ENST00000280190.4:c.482G>T	p.Ser161Ile	p.S161I	ENST00000280190		161	aGt/aTt	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		84	1.79		HGNC	p.S161I		WDR17		SNV							ENST00000507824	protein_coding	getma.org/?cm=var&var=hg19,4,177041120,G,T&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		S/I		T	low	638/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=113&re=312&var=S161I	tolerated(0.05)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Ser137Ile,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Ser161Ile,ENST00000280190,;WDR17,missense_variant,p.Ser137Ile,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Ser161Ile,ENST00000507824,;WDR17,missense_variant,p.Ser35Ile,ENST00000505894,;WDR17,missense_variant,p.Val100Leu,ENST00000513261,;							MODERATE	482/3969	S161I	WDR17_HUMAN			Transcript		benign(0.094)	.	ENSP00000280190		CCDS3825.1			1	
CENPF	0	LGGM	GRCh37	1	214819146	214819146	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	86	25	.	.	ENST00000366955.3:c.6233G>A	p.Arg2078Lys	p.R2078K	ENST00000366955	NM_016343.3	2078	aGa/aAa	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		111	-0.855		HGNC	p.R2078K		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214819146,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874		R/K		A	neutral	6401/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=2089&re=2226&var=R2174K					YES	CENPF,missense_variant,p.Arg2078Lys,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000467765,;							MODERATE	6233/9345	R2174K	CENPF_HUMAN			Transcript		benign(0.002)	.	ENSP00000355922		CCDS31023.1			1	
FAM81B	0	LGGM	GRCh37	5	94749733	94749733	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	45	25	.	.	ENST00000283357.5:c.376G>A	p.Ala126Thr	p.A126T	ENST00000283357	NM_152548.2	126	Gct/Act	0	1	1	UPI000045731A	0	NA	ENST00000283357		ENSG00000153347	26335		70	2.33		HGNC	p.A126T		FAM81B		SNV							ENST00000283357	protein_coding	getma.org/?cm=var&var=hg19,5,94749733,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22420,hmmpanther:PTHR22420:SF3		A/T		A	medium	422/1560		getma.org/?cm=msa&ty=f&p=FA81B_HUMAN&rb=26&re=450&var=A126T	tolerated(0.08)				YES	FAM81B,missense_variant,p.Ala126Thr,ENST00000283357,NM_152548.2;FAM81B,downstream_gene_variant,,ENST00000510458,;FAM81B,missense_variant,p.Ala76Thr,ENST00000507832,;FAM81B,missense_variant,p.Ala72Thr,ENST00000503361,;FAM81B,3_prime_UTR_variant,,ENST00000503099,;FAM81B,intron_variant,,ENST00000513529,;							MODERATE	376/1359	A126T	FA81B_HUMAN			Transcript		benign(0.37)	.	ENSP00000283357		CCDS43341.1			1	
WDR93	0	LGGM	GRCh37	15	90246313	90246313	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	48	25	.	.	ENST00000268130.7:c.436A>G	p.Thr146Ala	p.T146A	ENST00000268130	NM_020212.1	146	Act/Gct	0	1	1	UPI00001D77A7	0	NA	ENST00000268130		ENSG00000140527	26924		73	1.845		HGNC	p.T146A		WDR93		SNV							ENST00000268130	protein_coding	getma.org/?cm=var&var=hg19,15,90246313,A,G&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR12219,hmmpanther:PTHR12219:SF14		T/A		G	low	537/2409		getma.org/?cm=msa&ty=f&p=WDR93_HUMAN&rb=19&re=558&var=T146A	tolerated(0.47)	H0YL01_HUMAN,B4DXL7_HUMAN			YES	WDR93,missense_variant,p.Thr146Ala,ENST00000268130,NM_020212.1;WDR93,missense_variant,p.Thr146Ala,ENST00000560294,NM_001284395.1;WDR93,missense_variant,p.Thr146Ala,ENST00000558000,NM_001284396.1;RP11-300G22.2,upstream_gene_variant,,ENST00000557964,;							MODERATE	436/2061	T146A	WDR93_HUMAN			Transcript		benign(0.384)	.	ENSP00000268130		CCDS32326.1			1	
GSTA5	0	LGGM	GRCh37	6	52701131	52701131	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	70	26	.	.	ENST00000370989.2:c.175G>T	p.Glu59Ter	p.E59*	ENST00000370989		59	Gag/Tag	0	1		UPI0000049038	0	NA	ENST00000284562		ENSG00000182793	19662		96	0		HGNC	p.E59X		GSTA5		SNV							ENST00000370989	protein_coding	getma.org/?cm=var&var=hg19,6,52701131,C,A&fts=all		PROSITE_profiles:PS50404,hmmpanther:PTHR11571:SF131,hmmpanther:PTHR11571,Gene3D:3.40.30.10,Pfam_domain:PF02798,Superfamily_domains:SSF52833		E/*		A	NA	245/845		NA						GSTA5,stop_gained,p.Glu59Ter,ENST00000370989,;GSTA5,stop_gained,p.Glu59Ter,ENST00000284562,NM_153699.1;GSTA5,intron_variant,,ENST00000475052,;							HIGH	175/669	E59*	GSTA5_HUMAN			Transcript			.	ENSP00000284562		CCDS4946.1			1	
ASCL3	0	LGGM	GRCh37	11	8959220	8959220	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	66	28	.	.	ENST00000325884.1:c.489T>G	p.Val163=	p.V163=	ENST00000325884	NM_020646.1	163	gtT/gtG	0	1		UPI0000141305	0		ENST00000531618		ENSG00000176009	740		94			HGNC	p.V163V		ASCL3		SNV							ENST00000531618	protein_coding			hmmpanther:PTHR13935:SF44,hmmpanther:PTHR13935,Superfamily_domains:SSF47459		V		C		539/633								ASCL3,synonymous_variant,p.=,ENST00000325884,NM_020646.1;ASCL3,synonymous_variant,p.=,ENST00000531618,;C11orf16,upstream_gene_variant,,ENST00000326053,NM_020643.2;C11orf16,upstream_gene_variant,,ENST00000525780,;C11orf16,upstream_gene_variant,,ENST00000526227,;C11orf16,upstream_gene_variant,,ENST00000528998,;C11orf16,upstream_gene_variant,,ENST00000527607,;C11orf16,upstream_gene_variant,,ENST00000528830,;							LOW	489/546		ASCL3_HUMAN			Transcript			.	ENSP00000435770		CCDS7795.1			1	
ZNF223	0	LGGM	GRCh37	19	44571066	44571066	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080061	H080061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	53	31	.	.	ENST00000434772.3:c.1085A>G	p.His362Arg	p.H362R	ENST00000434772	NM_013361.4	362	cAt/cGt	0	1	1	UPI00002025B5	0	getma.org/pdb.php?prot=ZN223_HUMAN&from=358&to=383&var=H362R	ENST00000434772		ENSG00000178386	13016		84	3.91		HGNC	p.H472R		ZNF223		SNV							ENST00000591793	protein_coding	getma.org/?cm=var&var=hg19,19,44571066,A,G&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF29,PROSITE_profiles:PS50157		H/R		G	high	1340/2418		getma.org/?cm=msa&ty=f&p=ZN223_HUMAN&rb=338&re=403&var=H362R	deleterious(0)	K7EQ32_HUMAN			YES	ZNF223,missense_variant,p.His362Arg,ENST00000434772,NM_013361.4;ZNF223,downstream_gene_variant,,ENST00000591850,;ZNF223,missense_variant,p.His472Arg,ENST00000591793,;ZNF223,downstream_gene_variant,,ENST00000593088,;							MODERATE	1085/1449	H362R	ZN223_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401947		CCDS12635.1			1	
MALRD1	0	LGGM	GRCh37	10	19498357	19498357	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	68	34	.	.	ENST00000377266.3:c.666C>A	p.Tyr222Ter	p.Y222*	ENST00000377266		222	taC/taA	0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		102			HGNC	p.Y209X		MALRD1		SNV							ENST00000454679	protein_coding			Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,SMART_domains:SM00137,Superfamily_domains:SSF49899		Y/*		A		627/4661								MALRD1,stop_gained,p.Tyr209Ter,ENST00000454679,;MALRD1,stop_gained,p.Tyr222Ter,ENST00000377266,;							HIGH	627/4422		CJ112_HUMAN			Transcript			.	ENSP00000412763					1	
IQCJ-SCHIP1	0	LGGM	GRCh37	3	158980368	158980368	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	59	34	.	.	ENST00000451172.1:c.187C>A	p.Arg63=	p.R63=	ENST00000451172	NM_001042705.2	63	Cgg/Agg	0	1	1	UPI0000E5AA62	0		ENST00000485419		ENSG00000250588	38842		93			HGNC	p.A60E		IQCJ-SCHIP1		SNV							ENST00000471575	protein_coding			Pfam_domain:PF15157		R		A		356/2445				C9JMW4_HUMAN,C9J630_HUMAN,C9J615_HUMAN			YES	IQCJ-SCHIP1,missense_variant,p.Ala60Glu,ENST00000471575,;IQCJ-SCHIP1,synonymous_variant,p.=,ENST00000485419,NM_001197113.1;IQCJ-SCHIP1,synonymous_variant,p.=,ENST00000476809,NM_001197114.1;IQCJ,synonymous_variant,p.=,ENST00000397832,NM_001042706.2;IQCJ,synonymous_variant,p.=,ENST00000482126,NM_001197100.1;IQCJ,synonymous_variant,p.=,ENST00000451172,NM_001042705.2;IQCJ-SCHIP1,synonymous_variant,p.=,ENST00000483486,;IQCJ-SCHIP1,synonymous_variant,p.=,ENST00000481715,;IQCJ-SCHIP1,synonymous_variant,p.=,ENST00000488898,;IQCJ,non_coding_transcript_exon_variant,,ENST00000481796,;IQCJ-SCHIP1,non_coding_transcript_exon_variant,,ENST00000467442,;							LOW	187/1692					Transcript			.	ENSP00000420182		CCDS56289.1			1	
GDF3	0	LGGM	GRCh37	12	7848081	7848081	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	29	35	.	.	ENST00000329913.3:c.244G>A	p.Val82Ile	p.V82I	ENST00000329913	NM_020634.1	82	Gta/Ata	0	1	1	UPI0000049E0E	0	NA	ENST00000329913		ENSG00000184344	4218		64	-0.66		HGNC	p.V82I		GDF3		SNV			1				ENST00000329913	protein_coding	getma.org/?cm=var&var=hg19,12,7848081,C,T&fts=all		hmmpanther:PTHR11848:SF38,hmmpanther:PTHR11848,Pfam_domain:PF00688		V/I		T	neutral	292/1239		getma.org/?cm=msa&ty=f&p=GDF3_HUMAN&rb=12&re=237&var=V82I	tolerated(1)				YES	GDF3,missense_variant,p.Val82Ile,ENST00000329913,NM_020634.1;							MODERATE	244/1095	V82I	GDF3_HUMAN			Transcript		benign(0.011)	.	ENSP00000331745		CCDS8581.1			1	
OXSM	0	LGGM	GRCh37	3	25832661	25832661	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	44	36	.	.	ENST00000280701.3:c.150C>G	p.Gly50=	p.G50=	ENST00000280701	NM_017897.2	50	ggC/ggG	0	1	1	UPI000004713F	0		ENST00000280701		ENSG00000151093	26063		80			HGNC	p.G50G		OXSM		SNV							ENST00000420173	protein_coding			hmmpanther:PTHR11712,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR03150,Pfam_domain:PF00109,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901		G		G		249/1519				C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN			YES	OXSM,synonymous_variant,p.=,ENST00000280701,NM_017897.2;OXSM,synonymous_variant,p.=,ENST00000420173,NM_001145391.1;OXSM,synonymous_variant,p.=,ENST00000452098,;OXSM,synonymous_variant,p.=,ENST00000428266,;NGLY1,upstream_gene_variant,,ENST00000417874,NM_001145294.1;OXSM,non_coding_transcript_exon_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,synonymous_variant,p.=,ENST00000448177,;							LOW	150/1380		OXSM_HUMAN			Transcript			.	ENSP00000280701		CCDS2643.1			1	
LILRA1	0	LGGM	GRCh37	19	55106744	55106744	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	63	38	.	.	ENST00000251372.3:c.538G>A	p.Ala180Thr	p.A180T	ENST00000251372	NM_006863.3	180	Gcc/Acc	0	1	1	UPI0000034C00	0	getma.org/pdb.php?prot=LIRA1_HUMAN&from=124&to=203&var=A180T	ENST00000251372		ENSG00000104974	6602		101	2.935		HGNC	p.A180T		LILRA1		SNV							ENST00000453777	protein_coding	getma.org/?cm=var&var=hg19,19,55106744,G,A&fts=all		hmmpanther:PTHR11738:SF89,hmmpanther:PTHR11738,Pfam_domain:PF13927,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/T		A	medium	720/1910		getma.org/?cm=msa&ty=f&p=LIRA1_HUMAN&rb=124&re=203&var=A180T	deleterious(0.02)				YES	LILRA1,missense_variant,p.Ala180Thr,ENST00000453777,NM_001278318.1;LILRA1,missense_variant,p.Ala180Thr,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,;							MODERATE	538/1470	A180T	LIRA1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000251372		CCDS12901.1			1	
WISP3	0	LGGM	GRCh37	6	112388193	112388193	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	43	40	.	.	ENST00000361714.1:c.644-1215T>G		*215*	ENST00000361714				0	1		UPI000004E930	0		ENST00000230529		ENSG00000112761	12771		83			HGNC	p.L204R		WISP3		SNV			1				ENST00000454589	protein_coding							G		-/1235				Q3T1A9_HUMAN				WISP3,5_prime_UTR_variant,,ENST00000409166,;WISP3,intron_variant,,ENST00000361714,;WISP3,intron_variant,,ENST00000368666,NM_198239.1;WISP3,intron_variant,,ENST00000604763,;WISP3,intron_variant,,ENST00000230529,NM_003880.3;WISP3,intron_variant,,ENST00000368663,;TUBE1,downstream_gene_variant,,ENST00000368662,NM_016262.4;TUBE1,downstream_gene_variant,,ENST00000604814,;WISP3,missense_variant,p.Leu222Arg,ENST00000368664,;WISP3,missense_variant,p.Leu204Arg,ENST00000454589,;TUBE1,downstream_gene_variant,,ENST00000605457,;							MODIFIER	-/1065		WISP3_HUMAN			Transcript			.	ENSP00000230529		CCDS5098.1			1	
SAMD9L	0	LGGM	GRCh37	7	92761723	92761723	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	82	44	.	.	ENST00000318238.4:c.3562C>T	p.Arg1188Ter	p.R1188*	ENST00000318238	NM_152703.2	1188	Cga/Tga	0	1	1	UPI000020F567	0	NA	ENST00000318238		ENSG00000177409	1349		126	0		HGNC	p.R1188X	rs572865269,COSM255929	SAMD9L		SNV						0,1	ENST00000437805	protein_coding	getma.org/?cm=var&var=hg19,7,92761723,G,A&fts=all	A:0.0008	hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		R/*		A	NA	4779/7134		NA		B4E3M1_HUMAN	A:0	A:0	YES	SAMD9L,stop_gained,p.Arg1188Ter,ENST00000318238,NM_152703.2;SAMD9L,stop_gained,p.Arg1188Ter,ENST00000411955,;SAMD9L,stop_gained,p.Arg1188Ter,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;		A:0.0002			0,1		HIGH	3562/4755	R1188*	SAM9L_HUMAN		A:0	Transcript			.	ENSP00000326247		CCDS34681.1		A:0	1	
GRM1	0	LGGM	GRCh37	6	146720185	146720185	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080061	H080061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	61	46	.	.	ENST00000361719.2:c.2010G>C	p.Met670Ile	p.M670I	ENST00000361719		670	atG/atC	0	1		UPI000013DCFD	0	NA	ENST00000282753		ENSG00000152822	4593		107	0.71		HGNC	p.M670I		GRM1		SNV			1				ENST00000392299	protein_coding	getma.org/?cm=var&var=hg19,6,146720185,G,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF00003,Prints_domain:PR00593,Prints_domain:PR00248		M/I		C	neutral	2245/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=602&re=838&var=M670I	tolerated(0.08)					GRM1,missense_variant,p.Met670Ile,ENST00000392299,;GRM1,missense_variant,p.Met670Ile,ENST00000361719,;GRM1,missense_variant,p.Met670Ile,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Met670Ile,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Met670Ile,ENST00000355289,;GRM1,missense_variant,p.Met670Ile,ENST00000507907,;							MODERATE	2010/3585	M670I	GRM1_HUMAN			Transcript		benign(0.158)	.	ENSP00000282753		CCDS5209.1			1	
CCDC60	0	LGGM	GRCh37	12	119943015	119943015	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	92	49	.	.	ENST00000327554.2:c.790C>A	p.Pro264Thr	p.P264T	ENST00000327554	NM_178499.3	264	Ccc/Acc	0	1	1	UPI000019906E	0	NA	ENST00000327554		ENSG00000183273	28610		141	2.2		HGNC	p.P264T		CCDC60		SNV							ENST00000327554	protein_coding	getma.org/?cm=var&var=hg19,12,119943015,C,A&fts=all				P/T		A	medium	1255/2450		getma.org/?cm=msa&ty=f&p=CCD60_HUMAN&rb=31&re=381&var=P264T	tolerated(0.2)	F5H5H4_HUMAN			YES	CCDC60,missense_variant,p.Pro264Thr,ENST00000327554,NM_178499.3;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;							MODERATE	790/1653	P264T	CCD60_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000333374		CCDS9190.1			1	
WDR47	0	LGGM	GRCh37	1	109554073	109554073	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	139	65	.	.	ENST00000400794.3:c.616A>G	p.Met206Val	p.M206V	ENST00000400794		206	Atg/Gtg	0	1		UPI0000139DD3	0	NA	ENST00000369962		ENSG00000085433	29141		204	-1.15		HGNC	p.M171V		WDR47		SNV							ENST00000357672	protein_coding	getma.org/?cm=var&var=hg19,1,109554073,T,C&fts=all		hmmpanther:PTHR19863		M/V		C	neutral	818/4199		getma.org/?cm=msa&ty=f&p=WDR47_HUMAN&rb=1&re=388&var=M199V	tolerated(0.53)	E9PR96_HUMAN,E9PNF6_HUMAN,E9PN15_HUMAN,E9PKZ6_HUMAN,B4DHA1_HUMAN				WDR47,missense_variant,p.Met171Val,ENST00000357672,;WDR47,missense_variant,p.Met199Val,ENST00000369965,NM_001142551.1,NM_014969.5,NM_001142550.1;WDR47,missense_variant,p.Met199Val,ENST00000369962,;WDR47,missense_variant,p.Met206Val,ENST00000400794,;WDR47,missense_variant,p.Met171Val,ENST00000361054,;WDR47,downstream_gene_variant,,ENST00000529074,;WDR47,downstream_gene_variant,,ENST00000528747,;WDR47,downstream_gene_variant,,ENST00000530772,;WDR47,downstream_gene_variant,,ENST00000531337,;							MODERATE	595/2760	M199V	WDR47_HUMAN			Transcript		benign(0.001)	.	ENSP00000358979		CCDS44187.1			1	
TRABD2A	0	LGGM	GRCh37	2	85097533	85097533	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080061	H080061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	123	67	.	.	ENST00000335459.5:c.485G>A	p.Arg162His	p.R162H	ENST00000335459	NM_001080824.2	162	cGc/cAc	0	1		UPI000016012F	0		ENST00000409520		ENSG00000186854	27013		190			HGNC	p.R162H	rs369195191	TRABD2A		SNV	T:0						ENST00000335459	protein_coding			hmmpanther:PTHR31120:SF4,hmmpanther:PTHR31120,Pfam_domain:PF01963		R/H	T:0.0001	T		528/1809			deleterious(0.03)					TRABD2A,missense_variant,p.Arg162His,ENST00000335459,NM_001080824.2;TRABD2A,missense_variant,p.Arg162His,ENST00000409520,NM_001277053.1;TRABD2A,missense_variant,p.Arg162His,ENST00000409133,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000436322,;TRABD2A,downstream_gene_variant,,ENST00000474298,;RPL12P18,upstream_gene_variant,,ENST00000437175,;							MODERATE	485/1518		TIKI1_HUMAN			Transcript		benign(0.16)	.	ENSP00000387075		CCDS62946.1			1	
ZHX1	0	LGGM	GRCh37	8	124267573	124267573	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080061	H080061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080061N.bam, H080061T.bam	Illumina HiSeq	48	92	.	.	ENST00000395571.3:c.614A>C	p.Asp205Ala	p.D205A	ENST00000395571	NM_007222.4	205	gAc/gCc	0	1		UPI000007404F	0		ENST00000297857		ENSG00000165156	12871		140			HGNC	p.D205A		ZHX1		SNV							ENST00000395571	protein_coding			hmmpanther:PTHR15467:SF4,hmmpanther:PTHR15467		D/A		G		1139/5014			tolerated(0.08)					ZHX1,missense_variant,p.Asp205Ala,ENST00000395571,NM_007222.4,NM_001017926.2;ZHX1,missense_variant,p.Asp205Ala,ENST00000297857,;ZHX1,missense_variant,p.Asp205Ala,ENST00000522655,;ZHX1-C8ORF76,intron_variant,,ENST00000357082,NM_001204180.1;ZHX1,upstream_gene_variant,,ENST00000602651,;ZHX1,intron_variant,,ENST00000517516,;ZHX1,downstream_gene_variant,,ENST00000522595,;ZHX1,downstream_gene_variant,,ENST00000524267,;ZHX1,downstream_gene_variant,,ENST00000480132,;							MODERATE	614/2622		ZHX1_HUMAN			Transcript		benign(0.119)	.	ENSP00000297857		CCDS6342.1			1	
RASSF2	0	LGGM	GRCh37	20	4773184	4773184	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	10	2	.	.	ENST00000379400.3:c.376+1G>T		p.X126_splice	ENST00000379400	NM_014737.2			0	1		UPI0000001C0A	0		ENST00000379376		ENSG00000101265	9883		12			HGNC	-	rs759577862	RASSF2		SNV							ENST00000379400	protein_coding							A		-/5282	3.02E-05							RASSF2,splice_donor_variant,,ENST00000379400,NM_014737.2;RASSF2,splice_donor_variant,,ENST00000379376,NM_170774.1;RASSF2,splice_donor_variant,,ENST00000478553,;							HIGH	376/981		RASF2_HUMAN			Transcript			.	ENSP00000368684	1.65E-05	CCDS13083.1			1	
SP5	0	LGGM	GRCh37	2	171573872	171573872	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	6	2	.	.	ENST00000375281.3:c.1155C>A	p.Val385=	p.V385=	ENST00000375281	NM_001003845.2	385	gtC/gtA	0	1	1	UPI000015C8D6	0		ENST00000375281		ENSG00000204335	14529		8			HGNC	p.V385V		SP5		SNV							ENST00000375281	protein_coding			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF15		V		A		1317/2033							YES	SP5,synonymous_variant,p.=,ENST00000375281,NM_001003845.2;LINC01124,upstream_gene_variant,,ENST00000409786,;SP5,downstream_gene_variant,,ENST00000487037,;							LOW	1155/1197		SP5_HUMAN			Transcript			.	ENSP00000364430		CCDS33322.1			1	
MST1L	0	LGGM	GRCh37	1	17084527	17084527	+	non_coding_transcript_exon_variant	RNA	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	45	3	.	.	ENST00000389184.2:n.1556A>G		*519*	ENST00000389184				0	1	1		0		ENST00000389184		ENSG00000186715	7390		48			HGNC	p.Q519R	COSM400760,COSM400759	MST1L		SNV						1,1	ENST00000389184	transcribed_unprocessed_pseudogene							C		1556/4377							YES	MST1L,non_coding_transcript_exon_variant,,ENST00000455405,;CROCC,intron_variant,,ENST00000466256,;MST1L,downstream_gene_variant,,ENST00000544155,;MST1L,downstream_gene_variant,,ENST00000545160,;MST1L,non_coding_transcript_exon_variant,,ENST00000389184,;MST1L,non_coding_transcript_exon_variant,,ENST00000442552,;					1,1		MODIFIER						Transcript			.						1	
TTLL8	0	LGGM	GRCh37	22	50480219	50480219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	22	3	.	.	ENST00000433387.1:c.769G>T	p.Ala257Ser	p.A257S	ENST00000433387		257	Gca/Tca	0	1	1	UPI0001915500	0	NA	ENST00000433387		ENSG00000138892	34000		25	-1.445		HGNC	p.A221S		TTLL8		SNV							ENST00000266182	protein_coding	getma.org/?cm=var&var=hg19,22,50480219,C,A&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF88,PROSITE_profiles:PS51221		A/S		A	neutral	769/2549		getma.org/?cm=msa&ty=f&p=TTLL8_HUMAN&rb=222&re=580&var=A257S	tolerated(0.87)				YES	TTLL8,missense_variant,p.Ala257Ser,ENST00000433387,;TTLL8,missense_variant,p.Ala221Ser,ENST00000266182,;TTLL8,missense_variant,p.Ala221Ser,ENST00000440475,;							MODERATE	769/2549	A257S	TTLL8_HUMAN			Transcript		benign(0.005)	.	ENSP00000392252					1	
LAMA2	0	LGGM	GRCh37	6	129725004	129725004	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	19	3	.	.	ENST00000421865.2:c.5765C>A	p.Thr1922Asn	p.T1922N	ENST00000421865	NM_001079823.1	1922	aCt/aAt	0	1	1	UPI00003673E0	0	NA	ENST00000421865		ENSG00000196569	6482		22	2.08		HGNC	p.T1922N		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129725004,C,A&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Superfamily_domains:SSF58104		T/N		A	medium	5814/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=1854&re=2036&var=T1922N	deleterious(0.01)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Thr1922Asn,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	5765/9369	T1922N	LAMA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000400365		CCDS5138.1			1	
FITM2	0	LGGM	GRCh37	20	42939648	42939648	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	2	3	.	.	ENST00000396825.3:c.141C>T	p.Ser47=	p.S47=	ENST00000396825	NM_001080472.1	47	agC/agT	0	1	1	UPI0000128612	0		ENST00000396825		ENSG00000197296	16135		5			HGNC	p.S47S		FITM2		SNV							ENST00000396825	protein_coding			Pfam_domain:PF10261,hmmpanther:PTHR23129,hmmpanther:PTHR23129:SF1,Low_complexity_(Seg):seg		S		A		162/4597							YES	FITM2,synonymous_variant,p.=,ENST00000396825,NM_001080472.1;							LOW	141/789		FITM2_HUMAN			Transcript			.	ENSP00000380037		CCDS33473.1			1	
HCN4	0	LGGM	GRCh37	15	73617654	73617654	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	18	3	.	.	ENST00000261917.3:c.1722C>T	p.Ser574=	p.S574=	ENST00000261917	NM_005477.2	574	agC/agT	0	1	1	UPI000003FFB5	0		ENST00000261917		ENSG00000138622	16882		21			HGNC	p.S574S	rs750941501	HCN4	6.08E-05	SNV			1				ENST00000261917	protein_coding			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:3bpzA01,Superfamily_domains:SSF51206		S		A		2716/7228							YES	HCN4,synonymous_variant,p.=,ENST00000261917,NM_005477.2;							LOW	1722/3612		HCN4_HUMAN			Transcript			.	ENSP00000261917	8.24E-06	CCDS10248.1			1	
USP32	0	LGGM	GRCh37	17	58286189	58286189	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	36	3	.	.	ENST00000300896.4:c.2599G>T	p.Ala867Ser	p.A867S	ENST00000300896	NM_032582.3	867	Gcc/Tcc	0	1	1	UPI0000047AF8	0	getma.org/pdb.php?prot=UBP32_HUMAN&from=731&to=1564&var=A867S	ENST00000300896		ENSG00000170832	19143		39	0.945		HGNC	p.A867S		USP32		SNV							ENST00000300896	protein_coding	getma.org/?cm=var&var=hg19,17,58286189,C,A&fts=all		Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006,PROSITE_profiles:PS50235		A/S		A	low	2794/5171		getma.org/?cm=msa&ty=f&p=UBP32_HUMAN&rb=731&re=1564&var=A867S	deleterious(0)	Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN			YES	USP32,missense_variant,p.Ala867Ser,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Ala537Ser,ENST00000592339,;USP32,downstream_gene_variant,,ENST00000590133,;USP32,downstream_gene_variant,,ENST00000591768,;USP32,upstream_gene_variant,,ENST00000585720,;							MODERATE	2599/4815	A867S	UBP32_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000300896		CCDS32697.1			1	
ZNF462	0	LGGM	GRCh37	9	109771913	109771913	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	22	3	.	.	ENST00000277225.5:c.7277G>T	p.Gly2426Val	p.G2426V	ENST00000277225		2426	gGc/gTc	0	1	1	UPI0000470106	0	NA	ENST00000277225		ENSG00000148143	21684		25	1.8		HGNC	p.G383V		ZNF462		SNV							ENST00000542028	protein_coding	getma.org/?cm=var&var=hg19,9,109771913,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355		G/V		T	low	7566/10414		getma.org/?cm=msa&ty=f&p=ZN462_HUMAN&rb=2324&re=2506&var=G2426V		U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,missense_variant,p.Gly2426Val,ENST00000277225,;ZNF462,missense_variant,p.Gly2486Val,ENST00000457913,NM_021224.4;ZNF462,missense_variant,p.Gly1369Val,ENST00000374686,;ZNF462,missense_variant,p.Gly1332Val,ENST00000441147,;ZNF462,missense_variant,p.Gly383Val,ENST00000542028,;RP11-508N12.2,intron_variant,,ENST00000439901,;ZNF462,non_coding_transcript_exon_variant,,ENST00000483287,;							MODERATE	7277/7521	G2426V	ZN462_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000277225		CCDS35096.1			1	
CR1	0	LGGM	GRCh37	1	207737248	207737248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	45	3	.	.	ENST00000367049.4:c.3626C>A	p.Thr1209Asn	p.T1209N	ENST00000367049	NM_000651.4	1209	aCc/aAc	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=747&to=803&var=T759N	ENST00000367051		ENSG00000203710	2334	0.000762	48	0.655		HGNC	p.T759N	rs776512609	CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207737248,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		T/N		A	neutral	2387/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=747&re=803&var=T759N	deleterious(0.02)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Thr1209Asn,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Thr759Asn,ENST00000367051,;CR1,missense_variant,p.Thr759Asn,ENST00000367053,;CR1,missense_variant,p.Thr759Asn,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000367052,;CR1,intron_variant,,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000597497,;CR1,downstream_gene_variant,,ENST00000367050,;CR1,non_coding_transcript_exon_variant,,ENST00000436595,;							MODERATE	2276/6120	T759N	CR1_HUMAN			Transcript		possibly_damaging(0.805)	common_variant	ENSP00000356018	7.51E-05				1	
FITM2	0	LGGM	GRCh37	20	42939649	42939649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	2	3	.	.	ENST00000396825.3:c.140G>T	p.Ser47Ile	p.S47I	ENST00000396825	NM_001080472.1	47	aGc/aTc	0	1	1	UPI0000128612	0	NA	ENST00000396825		ENSG00000197296	16135		5	2.76		HGNC	p.S47I	rs764188779	FITM2		SNV							ENST00000396825	protein_coding	getma.org/?cm=var&var=hg19,20,42939649,C,A&fts=all		Pfam_domain:PF10261,hmmpanther:PTHR23129,hmmpanther:PTHR23129:SF1,Low_complexity_(Seg):seg		S/I		A	medium	161/4597		getma.org/?cm=msa&ty=f&p=FITM2_HUMAN&rb=43&re=234&var=S47I	deleterious(0)				YES	FITM2,missense_variant,p.Ser47Ile,ENST00000396825,NM_001080472.1;							MODERATE	140/789	S47I	FITM2_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000380037		CCDS33473.1			1	
PET112	0	LGGM	GRCh37	4	152680055	152680055	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	45	3	.	.	ENST00000263985.6:c.196G>T	p.Val66Leu	p.V66L	ENST00000263985	NM_004564.2	66	Gtg/Ttg	0	1	1	UPI000012B14C	0	getma.org/pdb.php?prot=GATB_HUMAN&from=64&to=354&var=V66L	ENST00000263985		ENSG00000059691	8849		48	3.075		HGNC	p.V66L		PET112		SNV							ENST00000508611	protein_coding	getma.org/?cm=var&var=hg19,4,152680055,C,A&fts=all		HAMAP:MF_00121,hmmpanther:PTHR11659,hmmpanther:PTHR11659:SF0,Pfam_domain:PF02934,TIGRFAM_domain:TIGR00133,Superfamily_domains:SSF55931		V/L		A	medium	237/2385		getma.org/?cm=msa&ty=f&p=GATB_HUMAN&rb=64&re=354&var=V66L	deleterious(0.01)				YES	PET112,missense_variant,p.Val66Leu,ENST00000263985,NM_004564.2;PET112,missense_variant,p.Val66Leu,ENST00000515812,;PET112,missense_variant,p.Val66Leu,ENST00000512306,;PET112,missense_variant,p.Val66Leu,ENST00000508611,;PET112,missense_variant,p.Val49Leu,ENST00000503160,;PET112,missense_variant,p.Val62Leu,ENST00000511538,;PET112,missense_variant,p.Val57Leu,ENST00000515884,;							MODERATE	196/1674	V66L	GATB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263985		CCDS3776.1			1	
TCEB3CL	0	LGGM	GRCh37	18	44549186	44549186	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	15	4	.	.	ENST00000451265.1:c.1113G>A	p.Thr371=	p.T371=	ENST00000451265	NM_001100817.1	371	acG/acA	0	1	1	UPI0000366CBD	0		ENST00000451265		ENSG00000234298	31007		19			HGNC	p.T371T		TCEB3CL		SNV							ENST00000451265	protein_coding			hmmpanther:PTHR15141,hmmpanther:PTHR15141:SF36,Pfam_domain:PF06881		T		T		1349/1877							YES	TCEB3CL,synonymous_variant,p.=,ENST00000451265,NM_001100817.1;KATNAL2,intron_variant,,ENST00000245121,NM_031303.2;KATNAL2,intron_variant,,ENST00000356157,;KATNAL2,intron_variant,,ENST00000592005,;KATNAL2,intron_variant,,ENST00000585469,;TCEB3CL2,upstream_gene_variant,,ENST00000591973,NM_001242907.1;							LOW	1113/1641		EA3L1_HUMAN			Transcript			.	ENSP00000409932		CCDS42433.1			1	
BSN	0	LGGM	GRCh37	3	49701082	49701082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	8	4	.	.	ENST00000296452.4:c.11491C>A	p.Pro3831Thr	p.P3831T	ENST00000296452	NM_003458.3	3831	Cct/Act	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		12	0		HGNC	p.P3831T		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49701082,C,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		P/T		A	neutral	11605/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=2363&re=3924&var=P3831T					YES	BSN,missense_variant,p.Pro3831Thr,ENST00000296452,NM_003458.3;							MODERATE	11491/11781	P3831T	BSN_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000296452		CCDS2800.1			1	
APOBEC3A	0	LGGM	GRCh37	22	39357631	39357631	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	40	4	.	.	ENST00000402255.1:c.414G>T	p.Glu138Asp	p.E138D	ENST00000402255		138	gaG/gaT	0	1		UPI00001318F4	0	getma.org/pdb.php?prot=ABC3A_HUMAN&from=133&to=187&var=E138D	ENST00000249116		ENSG00000128383	17343		44	2.585		HGNC	p.E138D		APOBEC3A		SNV							ENST00000402255	protein_coding	getma.org/?cm=var&var=hg19,22,39357631,G,T&fts=all		Pfam_domain:PF05240,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF14,Superfamily_domains:SSF53927		E/D		T	medium	584/1444		getma.org/?cm=msa&ty=f&p=ABC3A_HUMAN&rb=133&re=187&var=E138D	tolerated(0.51)					APOBEC3A,missense_variant,p.Glu138Asp,ENST00000402255,;APOBEC3A,missense_variant,p.Glu138Asp,ENST00000249116,NM_145699.3,NM_001270406.1;APOBEC3A,downstream_gene_variant,,ENST00000488758,;							MODERATE	414/600	E138D	ABC3A_HUMAN			Transcript		benign(0.189)	.	ENSP00000249116		CCDS13981.1			1	
ZKSCAN5	0	LGGM	GRCh37	7	99129008	99129008	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	58	4	.	.	ENST00000394170.2:c.1656C>T	p.Asn552=	p.N552=	ENST00000394170	NM_014569.3	552	aaC/aaT	0	1		UPI000013C3AC	0		ENST00000326775		ENSG00000196652	12867		62			HGNC	p.N552N	rs767027058	ZKSCAN5		SNV							ENST00000326775	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF214,SMART_domains:SM00355,Superfamily_domains:SSF57667		N		T		1779/4178	3.00E-05			Q75MV2_HUMAN,J7M2L3_HUMAN,J7M2K9_HUMAN				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,;							LOW	1656/2520		ZKSC5_HUMAN			Transcript			.	ENSP00000322872	2.47E-05	CCDS5667.1	0.00111		1	
TP53INP2	0	LGGM	GRCh37	20	33296597	33296597	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	4	5	.	.	ENST00000374810.3:c.54C>A	p.Asp18Glu	p.D18E	ENST00000374810	NM_021202.1	18	gaC/gaA	0	1		UPI0000074230	0	NA	ENST00000374809		ENSG00000078804	16104		9	-0.06		HGNC	p.D18E	rs780289870	TP53INP2	0.000155	SNV							ENST00000374809	protein_coding	getma.org/?cm=var&var=hg19,20,33296597,C,A&fts=all		hmmpanther:PTHR31671,hmmpanther:PTHR31671:SF2		D/E		A	neutral	277/4018		getma.org/?cm=msa&ty=f&p=T53I2_HUMAN&rb=1&re=38&var=D18E	tolerated(0.65)	Q5JX66_HUMAN				TP53INP2,missense_variant,p.Asp18Glu,ENST00000374810,NM_021202.1;TP53INP2,missense_variant,p.Asp18Glu,ENST00000374809,;TP53INP2,missense_variant,p.Asp18Glu,ENST00000451665,;TP53INP2,missense_variant,p.Asp18Glu,ENST00000414082,;NCOA6,intron_variant,,ENST00000593786,;NCOA6,intron_variant,,ENST00000434040,;							MODERATE	54/663	D18E	T53I2_HUMAN			Transcript		benign(0.021)	.	ENSP00000363942	1.65E-05	CCDS13240.1			1	
MTBP	0	LGGM	GRCh37	8	121531055	121531055	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	112	5	.	.	ENST00000305949.1:c.2608A>C	p.Lys870Gln	p.K870Q	ENST00000305949	NM_022045.4	870	Aag/Cag	0	1	1	UPI00000703F0	0	NA	ENST00000305949		ENSG00000172167	7417		117	2.255		HGNC	p.K870Q		MTBP		SNV							ENST00000305949	protein_coding	getma.org/?cm=var&var=hg19,8,121531055,A,C&fts=all		Pfam_domain:PF14920,hmmpanther:PTHR14382,hmmpanther:PTHR14382:SF1		K/Q		C	medium	2653/3059		getma.org/?cm=msa&ty=f&p=MTBP_HUMAN&rb=34&re=902&var=K870Q	deleterious(0.01)				YES	MTBP,missense_variant,p.Lys870Gln,ENST00000305949,NM_022045.4;MTBP,missense_variant,p.Lys39Gln,ENST00000519556,;							MODERATE	2608/2715	K870Q	MTBP_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000303398		CCDS6333.1			1	
ZNF646	0	LGGM	GRCh37	16	31091609	31091609	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	4	5	.	.	ENST00000300850.5:c.3964G>A	p.Glu1322Lys	p.E1322K	ENST00000300850	NM_014699.3	1322	Gag/Aag	0	1		UPI00001395B0	0	NA	ENST00000394979		ENSG00000167395	29004		9	0.725		HGNC	p.E1322K	rs374257528	ZNF646	6.08E-05	SNV							ENST00000394979	protein_coding	getma.org/?cm=var&var=hg19,16,31091609,G,A&fts=all		Superfamily_domains:SSF57667,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182		E/K		A	neutral	4387/8118		getma.org/?cm=msa&ty=f&p=ZN646_HUMAN&rb=1292&re=1355&var=E1322K	tolerated(0.49)	H3BSD0_HUMAN,C9J3L0_HUMAN				ZNF646,missense_variant,p.Glu1322Lys,ENST00000394979,;ZNF646,missense_variant,p.Glu1322Lys,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,;							MODERATE	3964/5490	E1322K	ZN646_HUMAN			Transcript		benign(0.046)	.	ENSP00000378429	8.25E-06				1	
PDLIM5	0	LGGM	GRCh37	4	95496802	95496802	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	68	5	.	.	ENST00000514743.1:c.292-292T>C		*98*	ENST00000514743	NM_001256426.1			0	1		UPI00001401C7	0		ENST00000317968		ENSG00000163110	17468		73			HGNC	p.I109I		PDLIM5		SNV							ENST00000317968	protein_coding			hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF32		I		C		463/6083				Q4W5K9_HUMAN,F5H7Y0_HUMAN				PDLIM5,synonymous_variant,p.=,ENST00000317968,NM_001256428.1,NM_006457.4;PDLIM5,5_prime_UTR_variant,,ENST00000542407,;PDLIM5,intron_variant,,ENST00000437932,NM_001256425.1,NM_001011513.3;PDLIM5,intron_variant,,ENST00000514743,NM_001256426.1;PDLIM5,intron_variant,,ENST00000503974,NM_001256427.1;PDLIM5,intron_variant,,ENST00000380180,NM_001011515.2;PDLIM5,intron_variant,,ENST00000318007,NM_001011516.2;PDLIM5,intron_variant,,ENST00000508216,;PDLIM5,intron_variant,,ENST00000450793,;PDLIM5,intron_variant,,ENST00000538141,;PDLIM5,intron_variant,,ENST00000513341,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000510099,;PDLIM5,intron_variant,,ENST00000514830,;PDLIM5,intron_variant,,ENST00000508531,;PDLIM5,upstream_gene_variant,,ENST00000511586,;PDLIM5,intron_variant,,ENST00000509357,;PDLIM5,downstream_gene_variant,,ENST00000509333,;							LOW	327/1791		PDLI5_HUMAN			Transcript			.	ENSP00000321746		CCDS3641.1			1	
SLC22A8	0	LGGM	GRCh37	11	62763206	62763206	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	49	7	.	.	ENST00000336232.2:c.971G>A	p.Arg324His	p.R324H	ENST00000336232	NM_001184736.1	324	cGc/cAc	0	1	1	UPI0000036DF2	0	NA	ENST00000336232		ENSG00000149452	10972		56	4.11		HGNC	p.R324H	rs749501509,COSM4034940	SLC22A8		SNV				9.64E-05		0,1	ENST00000311438	protein_coding	getma.org/?cm=var&var=hg19,11,62763206,C,T&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850		R/H		T	high	1107/2178	7.50E-05	getma.org/?cm=msa&ty=f&p=S22A8_HUMAN&rb=86&re=507&var=R324H	deleterious(0)				YES	SLC22A8,missense_variant,p.Arg324His,ENST00000336232,NM_001184736.1,NM_001184732.1,NM_004254.3;SLC22A8,missense_variant,p.Arg324His,ENST00000430500,;SLC22A8,missense_variant,p.Arg324His,ENST00000311438,;SLC22A8,missense_variant,p.Arg233His,ENST00000545207,NM_001184733.1;SLC22A8,missense_variant,p.Arg201His,ENST00000535878,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,upstream_gene_variant,,ENST00000451262,;SLC22A8,downstream_gene_variant,,ENST00000542904,;	0.000116				0,1		MODERATE	971/1629	R324H	S22A8_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000337335	5.77E-05	CCDS8042.1			1	
HMHA1	0	LGGM	GRCh37	19	1074165	1074165	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	11	7	.	.	ENST00000539243.2:c.901G>T	p.Ala301Ser	p.A301S	ENST00000539243	NM_001258328.1	301	Gca/Tca	0	1		UPI000008AF58	0	getma.org/pdb.php?prot=HMHA1_HUMAN&from=1&to=709&var=A285S	ENST00000313093		ENSG00000180448	17102		18	2.485		HGNC	p.A312S		HMHA1		SNV							ENST00000590214	protein_coding	getma.org/?cm=var&var=hg19,19,1074165,G,T&fts=all		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18,SMART_domains:SM00055,Superfamily_domains:SSF103657		A/S		T	medium	1084/4264		getma.org/?cm=msa&ty=f&p=HMHA1_HUMAN&rb=1&re=709&var=A285S	deleterious(0.03)	O78181_HUMAN				HMHA1,missense_variant,p.Ala285Ser,ENST00000313093,NM_012292.3;HMHA1,missense_variant,p.Ala312Ser,ENST00000590214,;HMHA1,missense_variant,p.Ala289Ser,ENST00000586866,;HMHA1,missense_variant,p.Ala301Ser,ENST00000539243,NM_001258328.1;HMHA1,missense_variant,p.Ala168Ser,ENST00000543365,NM_001282335.1;HMHA1,missense_variant,p.Ala125Ser,ENST00000536472,;HMHA1,upstream_gene_variant,,ENST00000590577,NM_001282334.1;HMHA1,downstream_gene_variant,,ENST00000587186,;HMHA1,downstream_gene_variant,,ENST00000592335,;HMHA1,3_prime_UTR_variant,,ENST00000587602,;HMHA1,non_coding_transcript_exon_variant,,ENST00000586033,;HMHA1,intron_variant,,ENST00000591293,;							MODERATE	853/3411	A285S	HMHA1_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000316772		CCDS32863.1			1	
TP53	0	LGGM	GRCh37	17	7577547	7577547	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	2	7	.	.	ENST00000269305.4:c.734G>A	p.Gly245Asp	p.G245D	ENST00000269305	NM_001126112.2	245	gGc/gAc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G245D	ENST00000269305	pathogenic	ENSG00000141510	11998		9	3.255		HGNC	p.G245D	rs121912656,TP53_g.13371G>A,COSM43606,COSM179806,COSM179805,COSM3388189,COSM1640832,COSM179807	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7577547,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		G/D		T	medium	924/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G245D	deleterious(0)	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			YES	TP53,missense_variant,p.Gly245Asp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly245Asp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly245Asp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly245Asp,ENST00000445888,;TP53,missense_variant,p.Gly245Asp,ENST00000359597,;TP53,missense_variant,p.Gly245Asp,ENST00000413465,;TP53,missense_variant,p.Gly113Asp,ENST00000509690,;TP53,missense_variant,p.Gly152Asp,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,;					0,0,1,1,1,1,1,1		MODERATE	734/1182	G245D	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
ARSD	0	LGGM	GRCh37	X	2835999	2836007	+	inframe_deletion	In_Frame_Del	DEL	CCACGCCGG	CCACGCCGG	-	novel	by Submitter	H080074	H080074N.bam	CCACGCCGG	CCACGCCGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	4	8	.	.	ENST00000381154.1:c.701_709delCCGGCGTGG	p.Ala234_Val236del	p.A234_V236del	ENST00000381154	NM_001669.3	234	gCCGGCGTGGgc/ggc	0	1	1	UPI0000070902	0		ENST00000381154		ENSG00000006756	717	0.000335	12			HGNC	p.234_237del	rs113556864,COSM1467378	ARSD	0.000313	deletion	-:0.1212			0.00125		0,1	ENST00000381154	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF53649,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF200		AGVG/G	-:0.2184	-		777-785/5159	0.0012						YES	ARSD,inframe_deletion,p.Ala234_Val236del,ENST00000381154,NM_001669.3;ARSD,non_coding_transcript_exon_variant,,ENST00000217890,;ARSD,intron_variant,,ENST00000495294,;ARSD,upstream_gene_variant,,ENST00000481340,;ARSD,downstream_gene_variant,,ENST00000494870,;ARSD,downstream_gene_variant,,ENST00000559324,;	0.00047				0,1		MODERATE	701-709/1782		ARSD_HUMAN	0.00259		Transcript			common_variant	ENSP00000370546	0.215	CCDS35196.1			1	
AATF	0	LGGM	GRCh37	17	35345829	35345845	+	frameshift_variant	Frame_Shift_Del	DEL	CTAGTGAAGATGATGAG	CTAGTGAAGATGATGAG	-	novel	by Submitter	H080074	H080074N.bam	CTAGTGAAGATGATGAG	CTAGTGAAGATGATGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	18	11	.	.	ENST00000225402.5:c.961_977del	p.Ser321GlyfsTer47	p.S321Gfs*47	ENST00000225402	NM_012138.3	320	tCTAGTGAAGATGATGAG/t	0	1	1	UPI000006E3DE	0		ENST00000225402		ENSG00000108270	19235		29			HGNC	p.320_325del		AATF		deletion							ENST00000225402	protein_coding			hmmpanther:PTHR15565:SF0,hmmpanther:PTHR15565,Pfam_domain:PF13339		SSEDDE/X		-		1210-1226/2141				K7ERC2_HUMAN			YES	AATF,frameshift_variant,p.Ser321GlyfsTer47,ENST00000225402,NM_012138.3;AATF,upstream_gene_variant,,ENST00000589579,;AATF,upstream_gene_variant,,ENST00000593084,;AATF,3_prime_UTR_variant,,ENST00000592751,;							HIGH	959-975/1683		AATF_HUMAN			Transcript	2		.	ENSP00000225402		CCDS32632.1			1	
ERP29	0	LGGM	GRCh37	12	112459993	112459993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	26	12	.	.	ENST00000261735.3:c.323A>G	p.Tyr108Cys	p.Y108C	ENST00000261735	NM_006817.3	108	tAc/tGc	0	1	1	UPI000012A0D9	0	getma.org/pdb.php?prot=ERP29_HUMAN&from=33&to=155&var=Y108C	ENST00000261735		ENSG00000089248	13799		38	2.485		HGNC	p.Y108C		ERP29		SNV							ENST00000261735	protein_coding	getma.org/?cm=var&var=hg19,12,112459993,A,G&fts=all		Gene3D:3.40.30.10,Pfam_domain:PF07912,PIRSF_domain:PIRSF027352,hmmpanther:PTHR12211,hmmpanther:PTHR12211:SF0,Superfamily_domains:SSF52833		Y/C		G	medium	473/1735		getma.org/?cm=msa&ty=f&p=ERP29_HUMAN&rb=33&re=155&var=Y108C	deleterious(0)	F8VY02_HUMAN			YES	ERP29,missense_variant,p.Tyr108Cys,ENST00000261735,NM_006817.3;ERP29,missense_variant,p.Tyr7Cys,ENST00000546477,;ERP29,3_prime_UTR_variant,,ENST00000455836,NM_001034025.1;NAA25,downstream_gene_variant,,ENST00000261745,NM_024953.3;ERP29,downstream_gene_variant,,ENST00000552052,;							MODERATE	323/786	Y108C	ERP29_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261735		CCDS9158.1			1	
BRAF	0	LGGM	GRCh37	7	140482832	140482832	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	14	12	.	.	ENST00000288602.6:c.1303A>G	p.Arg435Gly	p.R435G	ENST00000288602	NM_004333.4	435	Agg/Ggg	0	1	1	UPI000013DF26	0	NA	ENST00000288602		ENSG00000157764	1097		26	1.39		HGNC	p.R435G		BRAF		SNV			1				ENST00000288602	protein_coding	getma.org/?cm=var&var=hg19,7,140482832,T,C&fts=all		hmmpanther:PTHR23257:SF360,hmmpanther:PTHR23257		R/G		C	low	1364/2480		getma.org/?cm=msa&ty=f&p=BRAF_HUMAN&rb=283&re=456&var=R435G	tolerated(0.07)	Q75MQ8_HUMAN,E5FF37_HUMAN,D7PBN4_HUMAN			YES	BRAF,missense_variant,p.Arg43Gly,ENST00000496384,;BRAF,missense_variant,p.Arg435Gly,ENST00000288602,NM_004333.4;BRAF,3_prime_UTR_variant,,ENST00000497784,;							MODERATE	1303/2301	R435G	BRAF_HUMAN			Transcript		benign(0.159)	.	ENSP00000288602		CCDS5863.1			1	
SCNN1D	0	LGGM	GRCh37	1	1222214	1222214	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	2	13	.	.	ENST00000379116.5:c.978G>A	p.Leu326=	p.L326=	ENST00000379116	NM_001130413.3	326	ctG/ctA	0	1		UPI000013E180	0		ENST00000338555		ENSG00000162572	10601		15			HGNC	p.C295Y		SCNN1D		SNV							ENST00000379101	protein_coding			hmmpanther:PTHR11690:SF132,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859		L		A		1630/3475								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,missense_variant,p.Cys295Tyr,ENST00000379101,;							LOW	486/1917		SCNND_HUMAN			Transcript			.	ENSP00000339504					1	
ARHGEF4	0	LGGM	GRCh37	2	131799442	131799442	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	7	13	.	.	ENST00000326016.5:c.1392C>T	p.Leu464=	p.L464=	ENST00000326016	NM_015320.3	464	ctC/ctT	0	1	1	UPI00001417F6	0		ENST00000326016		ENSG00000136002	684		20			HGNC	p.L393L		ARHGEF4		SNV							ENST00000355771	protein_coding			Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826,PROSITE_profiles:PS50010		L		T		1911/3656				Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN			YES	ARHGEF4,synonymous_variant,p.=,ENST00000392953,;ARHGEF4,synonymous_variant,p.=,ENST00000525839,NM_032995.2;ARHGEF4,synonymous_variant,p.=,ENST00000326016,NM_015320.3;ARHGEF4,synonymous_variant,p.=,ENST00000409303,;ARHGEF4,synonymous_variant,p.=,ENST00000355771,;ARHGEF4,synonymous_variant,p.=,ENST00000532720,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,downstream_gene_variant,,ENST00000496764,;ARHGEF4,downstream_gene_variant,,ENST00000528247,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000525092,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000527365,;							LOW	1392/2073		ARHG4_HUMAN			Transcript			.	ENSP00000316845		CCDS2165.1			1	
NOS1	0	LGGM	GRCh37	12	117768557	117768557	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	15	13	.	.	ENST00000338101.4:c.318C>T	p.His106=	p.H106=	ENST00000338101		106	caC/caT	0	1		UPI0000130397	0		ENST00000317775		ENSG00000089250	7872		28			HGNC	p.H106H		NOS1		SNV			1				ENST00000338101	protein_coding			Superfamily_domains:SSF50156,PIRSF_domain:PIRSF000333		H		A		1004/12158				B3VK56_HUMAN,A0PJJ7_HUMAN				NOS1,synonymous_variant,p.=,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000344089,NM_001204213.1,NM_001204214.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;							LOW	318/4305		NOS1_HUMAN			Transcript			.	ENSP00000320758		CCDS41842.1			1	
DUSP14	0	LGGM	GRCh37	17	35872462	35872462	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	11	13	.	.	ENST00000487847.1:c.88A>G	p.Ile30Val	p.I30V	ENST00000487847		30	Atc/Gtc	0	1	1	UPI0000129965	0	NA	ENST00000487847		ENSG00000161326	17007		24	0		HGNC	p.I30V		DUSP14		SNV							ENST00000394386	protein_coding	getma.org/?cm=var&var=hg19,17,35872462,A,G&fts=all		Prints_domain:PR01910,Superfamily_domains:SSF52799,SMART_domains:SM00195,Gene3D:3.90.190.10,hmmpanther:PTHR10159:SF117,hmmpanther:PTHR10159,PROSITE_profiles:PS50054		I/V		G	neutral	1066/2207		getma.org/?cm=msa&ty=f&p=DUS14_HUMAN&rb=1&re=33&var=I30V	tolerated(0.28)	Q6FI36_HUMAN			YES	DUSP14,missense_variant,p.Ile30Val,ENST00000487847,;DUSP14,missense_variant,p.Ile30Val,ENST00000394386,;DUSP14,missense_variant,p.Ile30Val,ENST00000394389,NM_007026.2;SYNRG,downstream_gene_variant,,ENST00000339208,NM_001163544.1,NM_001163545.1,NM_007247.4;SYNRG,downstream_gene_variant,,ENST00000346661,;SYNRG,downstream_gene_variant,,ENST00000590102,;							MODERATE	88/597	I30V	DUS14_HUMAN			Transcript		benign(0.073)	.	ENSP00000466299		CCDS11320.1			1	
KCNJ4	0	LGGM	GRCh37	22	38822895	38822895	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	23	13	.	.	ENST00000303592.3:c.1243C>T	p.Arg415Trp	p.R415W	ENST00000303592	NM_152868.2	415	Cgg/Tgg	0	1	1	UPI000012D89B	0	NA	ENST00000303592		ENSG00000168135	6265		36	0.805		HGNC	p.R415W		KCNJ4		SNV							ENST00000303592	protein_coding	getma.org/?cm=var&var=hg19,22,38822895,G,A&fts=all		hmmpanther:PTHR11767:SF13,hmmpanther:PTHR11767,Prints_domain:PR01326		R/W		A	low	1502/2065		getma.org/?cm=msa&ty=f&p=IRK4_HUMAN&rb=380&re=443&var=R415W	tolerated_low_confidence(0.07)	Q58F07_HUMAN			YES	KCNJ4,missense_variant,p.Arg415Trp,ENST00000303592,NM_152868.2,NM_004981.1;RP3-434P1.6,intron_variant,,ENST00000433230,;							MODERATE	1243/1338	R415W	IRK4_HUMAN			Transcript		possibly_damaging(0.517)	.	ENSP00000306497		CCDS13971.1			1	
DENND5B	0	LGGM	GRCh37	12	31600625	31600625	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	104	14	.	.	ENST00000389082.5:c.1708T>G	p.Phe570Val	p.F570V	ENST00000389082	NM_144973.3	570	Ttt/Gtt	0	1	1	UPI0000E23226	0	NA	ENST00000389082		ENSG00000170456	28338		118	2.08		HGNC	p.F605V		DENND5B		SNV							ENST00000536562	protein_coding	getma.org/?cm=var&var=hg19,12,31600625,A,C&fts=all		SMART_domains:SM00801,Pfam_domain:PF03455,hmmpanther:PTHR10877:SF45,hmmpanther:PTHR10877,PROSITE_profiles:PS50947		F/V		C	medium	1973/9470		getma.org/?cm=msa&ty=f&p=DEN5B_HUMAN&rb=498&re=574&var=F570V	deleterious(0.03)				YES	DENND5B,missense_variant,p.Phe570Val,ENST00000389082,NM_144973.3;DENND5B,missense_variant,p.Phe605Val,ENST00000306833,;DENND5B,missense_variant,p.Phe605Val,ENST00000536562,;DENND5B,missense_variant,p.Phe592Val,ENST00000354285,;DENND5B,downstream_gene_variant,,ENST00000546299,;snoU13,upstream_gene_variant,,ENST00000458765,;							MODERATE	1708/3825	F570V	DEN5B_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000373734		CCDS44857.1			1	
POTEH	0	LGGM	GRCh37	22	16279195	16279195	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	45	15	.	.	ENST00000343518.6:c.1028G>A	p.Arg343Lys	p.R343K	ENST00000343518	NM_001136213.1	343	aGa/aAa	0	1	1	UPI0000E5A425	0	getma.org/pdb.php?prot=POTEH_HUMAN&from=323&to=404&var=R343K	ENST00000343518		ENSG00000198062	133	0.00151	60	1.625		HGNC	p.R343K	rs761642849	POTEH	0.000189	SNV							ENST00000343518	protein_coding	getma.org/?cm=var&var=hg19,22,16279195,C,T&fts=all		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		R/K		T	low	1080/1928	0.000422	getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=323&re=404&var=R343K	deleterious(0)				YES	POTEH,missense_variant,p.Arg343Lys,ENST00000343518,NM_001136213.1;RNU6-816P,upstream_gene_variant,,ENST00000390914,;POTEH-AS1,downstream_gene_variant,,ENST00000422014,;POTEH,splice_region_variant,,ENST00000452800,;	0.00928						MODERATE	1028/1638	R343K	POTEH_HUMAN	0.00786		Transcript		probably_damaging(0.997)	common_variant	ENSP00000340610	0.00161	CCDS46658.1	0.00346		1	
PON2	0	LGGM	GRCh37	7	95041791	95041791	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	16	16	.	.	ENST00000222572.3:c.202-2A>G		p.X68_splice	ENST00000222572				0	1	1	UPI000000D8F3	0		ENST00000222572		ENSG00000105854	9205		32			HGNC	-		PON2		SNV			1				ENST00000536183	protein_coding							C		-/1745							YES	PON2,splice_acceptor_variant,,ENST00000536183,NM_000305.2;PON2,splice_acceptor_variant,,ENST00000222572,;PON2,splice_acceptor_variant,,ENST00000433091,NM_001018161.1;GS1-293C5.1,upstream_gene_variant,,ENST00000608730,;PON2,splice_acceptor_variant,,ENST00000469926,;PON2,splice_acceptor_variant,,ENST00000491069,;PON2,splice_acceptor_variant,,ENST00000478801,;PON2,splice_acceptor_variant,,ENST00000493290,;PON2,intron_variant,,ENST00000490778,;PON2,upstream_gene_variant,,ENST00000483292,;PON2,downstream_gene_variant,,ENST00000460873,;PON2,splice_acceptor_variant,,ENST00000455123,;PON2,splice_acceptor_variant,,ENST00000446142,;PON2,upstream_gene_variant,,ENST00000459842,;PON2,downstream_gene_variant,,ENST00000493469,;							HIGH	202/1065		PON2_HUMAN			Transcript			.	ENSP00000222572		CCDS5640.1			1	
NOX3	0	LGGM	GRCh37	6	155752017	155752017	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	4	16	.	.	ENST00000159060.2:c.851T>A	p.Ile284Asn	p.I284N	ENST00000159060	NM_015718.2	284	aTt/aAt	0	1	1	UPI000006EC80	0	NA	ENST00000159060		ENSG00000074771	7890		20	2.485		HGNC	p.I284N		NOX3		SNV							ENST00000159060	protein_coding	getma.org/?cm=var&var=hg19,6,155752017,A,T&fts=all		hmmpanther:PTHR11972:SF12,hmmpanther:PTHR11972		I/N		T	medium	954/2042		getma.org/?cm=msa&ty=f&p=NOX3_HUMAN&rb=55&re=284&var=I284N	deleterious(0)				YES	NOX3,missense_variant,p.Ile284Asn,ENST00000159060,NM_015718.2;							MODERATE	851/1707	I284N	NOX3_HUMAN			Transcript		possibly_damaging(0.577)	.	ENSP00000159060		CCDS5250.1			1	
EHBP1L1	0	LGGM	GRCh37	11	65350445	65350445	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	43	18	.	.	ENST00000309295.4:c.2302G>T	p.Ala768Ser	p.A768S	ENST00000309295	NM_001099409.1	768	Gca/Tca	0	1	1	UPI00001605A9	0	NA	ENST00000309295		ENSG00000173442	30682		61	0.55		HGNC	p.A768S		EHBP1L1		SNV							ENST00000309295	protein_coding	getma.org/?cm=var&var=hg19,11,65350445,G,T&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF112		A/S		T	neutral	2567/5185		getma.org/?cm=msa&ty=f&p=EH1L1_HUMAN&rb=201&re=1029&var=A768S	tolerated(0.6)				YES	EHBP1L1,missense_variant,p.Ala768Ser,ENST00000309295,NM_001099409.1;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;							MODERATE	2302/4572	A768S	EH1L1_HUMAN			Transcript		benign(0.016)	.	ENSP00000312671		CCDS44649.1			1	
NETO1	0	LGGM	GRCh37	18	70451011	70451011	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	91	18	.	.	ENST00000327305.6:c.770A>C	p.Asp257Ala	p.D257A	ENST00000327305	NM_138966.3	257	gAt/gCt	0	1	1	UPI000013E59E	0	getma.org/pdb.php?prot=NETO1_HUMAN&from=172&to=284&var=D257A	ENST00000327305		ENSG00000166342	13823		109	2.555		HGNC	p.D257A		NETO1		SNV							ENST00000583169	protein_coding	getma.org/?cm=var&var=hg19,18,70451011,T,G&fts=all		Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127,PROSITE_profiles:PS01180		D/A		G	medium	1428/3058		getma.org/?cm=msa&ty=f&p=NETO1_HUMAN&rb=172&re=284&var=D257A	deleterious(0.03)				YES	NETO1,missense_variant,p.Asp257Ala,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.Asp257Ala,ENST00000583169,NM_001201465.1;NETO1,missense_variant,p.Asp256Ala,ENST00000299430,;NETO1,downstream_gene_variant,,ENST00000579730,;							MODERATE	770/1602	D257A	NETO1_HUMAN			Transcript		possibly_damaging(0.714)	.	ENSP00000313088		CCDS12000.1			1	
TECTA	0	LGGM	GRCh37	11	120998816	120998816	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	19	18	.	.	ENST00000392793.1:c.2130G>A	p.Glu710=	p.E710=	ENST00000392793		710	gaG/gaA	0	1		UPI000045659D	0		ENST00000264037		ENSG00000109927	11720		37			HGNC	p.E710E		TECTA		SNV			1				ENST00000392793	protein_coding			hmmpanther:PTHR11339,SMART_domains:SM00215,SMART_domains:SM00216		E		A		2130/6468								TECTA,synonymous_variant,p.=,ENST00000392793,;TECTA,synonymous_variant,p.=,ENST00000264037,NM_005422.2;							LOW	2130/6468		TECTA_HUMAN			Transcript			.	ENSP00000264037		CCDS8434.1			1	
CDKN1B	0	LGGM	GRCh37	12	12870883	12870883	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	16	19	.	.	ENST00000228872.4:c.110del	p.Asp37AlafsTer5	p.D37Afs*5	ENST00000228872	NM_004064.3	37	gAc/gc	0	1	1	UPI0000035C92	0		ENST00000228872		ENSG00000111276	1785		35			HGNC	p.D30fs		CDKN1B		deletion			1				ENST00000442489	protein_coding			hmmpanther:PTHR10265:SF9,hmmpanther:PTHR10265,Pfam_domain:PF02234,Gene3D:1jsuC00		D/X		-		826/2657				Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN			YES	CDKN1B,frameshift_variant,p.Asp37AlafsTer5,ENST00000228872,NM_004064.3;CDKN1B,frameshift_variant,p.Asp37AlafsTer5,ENST00000396340,;CDKN1B,frameshift_variant,p.Asp30AlafsTer5,ENST00000442489,;CDKN1B,intron_variant,,ENST00000477087,;							HIGH	110/597		CDN1B_HUMAN			Transcript			.	ENSP00000228872		CCDS8653.1			1	
ARHGAP6	0	LGGM	GRCh37	X	11207029	11207029	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	7	20	.	.	ENST00000337414.4:c.896A>G	p.Asp299Gly	p.D299G	ENST00000337414	NM_013427.2	299	gAc/gGc	0	1	1	UPI00001AED54	0	NA	ENST00000337414		ENSG00000047648	676		27	1.5		HGNC	p.D96G		ARHGAP6		SNV							ENST00000303025	protein_coding	getma.org/?cm=var&var=hg19,X,11207029,T,C&fts=all		hmmpanther:PTHR12635,hmmpanther:PTHR12635:SF3		D/G		C	low	1769/5117		getma.org/?cm=msa&ty=f&p=RHG06_HUMAN&rb=199&re=398&var=D299G	deleterious(0.02)	B4DN35_HUMAN			YES	ARHGAP6,missense_variant,p.Asp299Gly,ENST00000337414,NM_013427.2;ARHGAP6,missense_variant,p.Asp96Gly,ENST00000303025,NM_013423.2;ARHGAP6,missense_variant,p.Asp96Gly,ENST00000380736,NM_001287242.1;ARHGAP6,missense_variant,p.Asp299Gly,ENST00000380718,NM_006125.2;ARHGAP6,missense_variant,p.Asp135Gly,ENST00000380717,;ARHGAP6,missense_variant,p.Asp124Gly,ENST00000534860,;ARHGAP6,missense_variant,p.Asp331Gly,ENST00000380732,;ARHGAP6,missense_variant,p.Asp108Gly,ENST00000413512,;ARHGAP6,missense_variant,p.Asp331Gly,ENST00000495242,;ARHGAP6,non_coding_transcript_exon_variant,,ENST00000489330,;							MODERATE	896/2925	D299G	RHG06_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000338967		CCDS14140.1			1	
KCNA4	0	LGGM	GRCh37	11	30032303	30032303	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	24	21	.	.	ENST00000328224.6:c.1923C>T	p.Asn641=	p.N641=	ENST00000328224	NM_002233.3	641	aaC/aaT	0	1	1	UPI00001649FF	0		ENST00000328224		ENSG00000182255	6222		45			HGNC	p.N641N		KCNA4		SNV							ENST00000328224	protein_coding			hmmpanther:PTHR11537:SF45,hmmpanther:PTHR11537		N		A		3157/4172							YES	KCNA4,synonymous_variant,p.=,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;							LOW	1923/1962		KCNA4_HUMAN			Transcript			.	ENSP00000328511		CCDS41629.1			1	
DNAJC3	0	LGGM	GRCh37	13	96413026	96413026	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	26	21	.	.	ENST00000602402.1:c.822A>G	p.Ser274=	p.S274=	ENST00000602402	NM_006260.4	274	tcA/tcG	0	1	1	UPI000006F088	0		ENST00000602402		ENSG00000102580	9439		47			HGNC	p.S274S	rs768399221	DNAJC3		SNV							ENST00000376795	protein_coding			PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR24078:SF165,hmmpanther:PTHR24078,Gene3D:1.25.40.10		S		G		939/5591	1.51E-05			A8KA82_HUMAN			YES	DNAJC3,synonymous_variant,p.=,ENST00000602402,NM_006260.4;DNAJC3,synonymous_variant,p.=,ENST00000376795,;							LOW	822/1515		DNJC3_HUMAN			Transcript			.	ENSP00000473631	8.24E-06	CCDS9479.1			1	
TAF1	0	LGGM	GRCh37	X	70627936	70627936	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	2	21	.	.	ENST00000276072.3:c.4379A>G	p.Tyr1460Cys	p.Y1460C	ENST00000276072		1460	tAc/tGc	0	1		UPI00001367DD	0	getma.org/pdb.php?prot=TAF1_HUMAN&from=1389&to=1472&var=Y1439C	ENST00000373790		ENSG00000147133	11535		23	4.115		HGNC	p.Y1460C		TAF1		SNV			1				ENST00000276072	protein_coding	getma.org/?cm=var&var=hg19,X,70627936,A,G&fts=all		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		Y/C		G	high	4367/7629		getma.org/?cm=msa&ty=f&p=TAF1_HUMAN&rb=1389&re=1472&var=Y1439C	deleterious(0)					TAF1,missense_variant,p.Tyr1439Cys,ENST00000449580,;TAF1,missense_variant,p.Tyr1460Cys,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Tyr1439Cys,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,missense_variant,p.Tyr1460Cys,ENST00000276072,;TAF1,missense_variant,p.Tyr105Cys,ENST00000463163,;TAF1,downstream_gene_variant,,ENST00000483985,;TAF1,missense_variant,p.Tyr94Cys,ENST00000437147,;TAF1,missense_variant,p.Tyr94Cys,ENST00000373775,;							MODERATE	4316/5619	Y1439C	TAF1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000362895		CCDS35325.1			1	
UNC80	0	LGGM	GRCh37	2	210752905	210752905	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	24	22	.	.	ENST00000439458.1:c.4203C>T	p.Asp1401=	p.D1401=	ENST00000439458	NM_032504.1	1401	gaC/gaT	0	1	1	UPI00017E10C9	0		ENST00000439458		ENSG00000144406	26582		46			HGNC	p.D1396D	rs370008905	UNC80		SNV	T:0						ENST00000272845	protein_coding			hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		D	T:0.0003	T		4283/13562	0.000114						YES	UNC80,synonymous_variant,p.=,ENST00000439458,NM_032504.1;UNC80,synonymous_variant,p.=,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;							LOW	4203/9777		UNC80_HUMAN			Transcript			.	ENSP00000391088	4.09E-05	CCDS46504.1			1	
EIF3L	0	LGGM	GRCh37	22	38251608	38251608	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	40	23	.	.	ENST00000412331.2:c.330A>G	p.Thr110=	p.T110=	ENST00000412331	NM_016091.3	110	acA/acG	0	1	1	UPI00000012D7	0		ENST00000412331		ENSG00000100129	18138		63			HGNC	p.T127T		EIF3L		SNV							ENST00000414316	protein_coding			HAMAP:MF_03011,hmmpanther:PTHR13242		T		G		912/3220				Q7Z5X3_HUMAN,C9JHP4_HUMAN,B3KNG0_HUMAN,B0QY89_HUMAN			YES	EIF3L,synonymous_variant,p.=,ENST00000412331,NM_016091.3;EIF3L,synonymous_variant,p.=,ENST00000381683,NM_001242923.1;EIF3L,synonymous_variant,p.=,ENST00000451427,;EIF3L,synonymous_variant,p.=,ENST00000414316,;EIF3L,intron_variant,,ENST00000406934,;EIF3L,intron_variant,,ENST00000476955,;EIF3L,upstream_gene_variant,,ENST00000464790,;EIF3L,3_prime_UTR_variant,,ENST00000439997,;EIF3L,3_prime_UTR_variant,,ENST00000436452,;EIF3L,non_coding_transcript_exon_variant,,ENST00000477256,;							LOW	330/1695		EIF3L_HUMAN			Transcript			.	ENSP00000416892		CCDS13960.1			1	
CHRNA1	0	LGGM	GRCh37	2	175618323	175618323	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	29	26	.	.	ENST00000261007.5:c.761G>A	p.Arg254His	p.R254H	ENST00000261007	NM_001039523.2	254	cGc/cAc	0	1	1	UPI000012524E	0	getma.org/pdb.php?prot=ACHA_HUMAN&from=97&to=256&var=R254H	ENST00000261007	pathogenic	ENSG00000138435	1955		55	4.205		HGNC	p.R254H	rs137852809	CHRNA1		SNV			1			1	ENST00000261007	protein_coding	getma.org/?cm=var&var=hg19,2,175618323,C,T&fts=all		hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932,Prints_domain:PR00252		R/H		T	high	828/1980	3.00E-05	getma.org/?cm=msa&ty=f&p=ACHA_HUMAN&rb=97&re=256&var=R254H	deleterious(0)	A9X444_HUMAN			YES	CHRNA1,missense_variant,p.Arg229His,ENST00000348749,NM_000079.3;CHRNA1,missense_variant,p.Arg254His,ENST00000261007,NM_001039523.2;CHRNA1,missense_variant,p.Arg229His,ENST00000409323,;CHRNA1,missense_variant,p.Arg229His,ENST00000409219,;CHRNA1,missense_variant,p.Arg147His,ENST00000409542,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,3_prime_UTR_variant,,ENST00000435083,;							MODERATE	761/1449	R254H	ACHA_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000261007	2.47E-05	CCDS33331.1	0.0011		1	
CRYBA2	0	LGGM	GRCh37	2	219855709	219855709	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	44	27	.	.	ENST00000295728.2:c.311A>G	p.Asn104Ser	p.N104S	ENST00000295728	NM_057093.1	104	aAt/aGt	0	1	1	UPI0000000C76	0	getma.org/pdb.php?prot=CRBA2_HUMAN&from=99&to=106&var=N104S	ENST00000295728		ENSG00000163499	2395		71	-1.27		HGNC	p.N104S		CRYBA2		SNV			1				ENST00000295728	protein_coding	getma.org/?cm=var&var=hg19,2,219855709,T,C&fts=all		hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF7,Superfamily_domains:SSF49695		N/S		C	neutral	548/893		getma.org/?cm=msa&ty=f&p=CRBA2_HUMAN&rb=69&re=136&var=N104S	tolerated(0.86)	C9JDH2_HUMAN			YES	CRYBA2,missense_variant,p.Asn104Ser,ENST00000295728,NM_057093.1;CRYBA2,missense_variant,p.Asn104Ser,ENST00000392096,NM_057094.1;CRYBA2,missense_variant,p.Asn104Ser,ENST00000453769,;CRYBA2,non_coding_transcript_exon_variant,,ENST00000487181,;CRYBA2,non_coding_transcript_exon_variant,,ENST00000496566,;CRYBA2,downstream_gene_variant,,ENST00000490678,;							MODERATE	311/594	N104S	CRBA2_HUMAN			Transcript		benign(0)	.	ENSP00000295728		CCDS2429.1			1	
OXNAD1	0	LGGM	GRCh37	3	16312463	16312463	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	54	28	.	.	ENST00000285083.5:c.4G>T	p.Ala2Ser	p.A2S	ENST00000285083	NM_138381.3	2	Gcc/Tcc	0	1	1	UPI0000071465	0	NA	ENST00000285083		ENSG00000154814	25128		82	0.46		HGNC	p.A2S		OXNAD1		SNV							ENST00000442255	protein_coding	getma.org/?cm=var&var=hg19,3,16312463,G,T&fts=all				A/S		T	neutral	469/3929		getma.org/?cm=msa&ty=f&p=OXND1_HUMAN&rb=1&re=36&var=A2S	deleterious_low_confidence(0.05)				YES	OXNAD1,missense_variant,p.Ala2Ser,ENST00000285083,NM_138381.3;OXNAD1,missense_variant,p.Ala2Ser,ENST00000606098,;OXNAD1,missense_variant,p.Ala2Ser,ENST00000605932,;OXNAD1,missense_variant,p.Ala20Ser,ENST00000435829,;OXNAD1,missense_variant,p.Ala20Ser,ENST00000544043,;OXNAD1,missense_variant,p.Ala2Ser,ENST00000442255,;OXNAD1,missense_variant,p.Ala2Ser,ENST00000452581,;OXNAD1,non_coding_transcript_exon_variant,,ENST00000486267,;RP11-608O8.2,downstream_gene_variant,,ENST00000604305,;							MODERATE	4/939	A2S	OXND1_HUMAN			Transcript		benign(0.058)	.	ENSP00000285083		CCDS2630.1			1	
TAS2R60	0	LGGM	GRCh37	7	143141319	143141319	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	49	29	.	.	ENST00000332690.1:c.774A>G	p.Ser258=	p.S258=	ENST00000332690	NM_177437.1	258	tcA/tcG	0	1	1	UPI000000D824	0		ENST00000332690		ENSG00000185899	20639		78			HGNC	p.S258S		TAS2R60		SNV							ENST00000332690	protein_coding			Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF32,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S		G		774/957				Q50KC8_HUMAN			YES	TAS2R60,synonymous_variant,p.=,ENST00000332690,NM_177437.1;EPHA1-AS1,intron_variant,,ENST00000429289,;							LOW	774/957		T2R60_HUMAN			Transcript			.	ENSP00000327724		CCDS5885.1			1	
TIGD7	0	LGGM	GRCh37	16	3350523	3350523	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	7	30	.	.	ENST00000396862.1:c.92T>C	p.Val31Ala	p.V31A	ENST00000396862	NM_033208.3	31	gTa/gCa	0	1	1	UPI0000072536	0	NA	ENST00000396862		ENSG00000140993	18331		37	1.845		HGNC	p.V31A		TIGD7		SNV							ENST00000268674	protein_coding	getma.org/?cm=var&var=hg19,16,3350523,A,G&fts=all		PROSITE_profiles:PS50960,hmmpanther:PTHR19303:SF224,hmmpanther:PTHR19303,Gene3D:1.10.10.60,Pfam_domain:PF04218,Superfamily_domains:SSF46689		V/A		G	low	1921/3612		getma.org/?cm=msa&ty=f&p=TIGD7_HUMAN&rb=4&re=56&var=V31A	deleterious(0.01)	I3L2A8_HUMAN			YES	TIGD7,missense_variant,p.Val31Ala,ENST00000396862,NM_033208.3;TIGD7,missense_variant,p.Val31Ala,ENST00000268674,;TIGD7,missense_variant,p.Val31Ala,ENST00000573608,;ZNF263,3_prime_UTR_variant,,ENST00000575332,;ZNF263,intron_variant,,ENST00000574674,;ZNF75A,upstream_gene_variant,,ENST00000574298,NM_153028.2;ZNF75A,upstream_gene_variant,,ENST00000498240,;TIGD7,downstream_gene_variant,,ENST00000574598,;TIGD7,downstream_gene_variant,,ENST00000573695,;ZNF75A,upstream_gene_variant,,ENST00000571101,;TIGD7,downstream_gene_variant,,ENST00000572297,;TIGD7,downstream_gene_variant,,ENST00000570634,;TIGD7,downstream_gene_variant,,ENST00000576104,;TIGD7,downstream_gene_variant,,ENST00000571748,;ZNF75A,upstream_gene_variant,,ENST00000575234,;							MODERATE	92/1650	V31A	TIGD7_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000380071		CCDS10500.1			1	
NEK10	0	LGGM	GRCh37	3	27332162	27332162	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	58	31	.	.	ENST00000341435.5:c.1689T>C	p.Asp563=	p.D563=	ENST00000341435	NM_199347.2	563	gaT/gaC	0	1		UPI0000EE2A86	0		ENST00000429845		ENSG00000163491	18592		89			HGNC	p.D563D		NEK10		SNV							ENST00000429845	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77,Superfamily_domains:SSF56112		D		G		2052/4250				C9JJN0_HUMAN				NEK10,synonymous_variant,p.=,ENST00000429845,;NEK10,synonymous_variant,p.=,ENST00000341435,NM_199347.2;NEK10,synonymous_variant,p.=,ENST00000435584,;NEK10,intron_variant,,ENST00000357467,;NEK10,intron_variant,,ENST00000424275,;NEK10,intron_variant,,ENST00000574215,;							LOW	1689/3519		NEK10_HUMAN			Transcript			.	ENSP00000395849					1	
PELI2	0	LGGM	GRCh37	14	56763714	56763714	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080074	H080074N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	46	32	.	.	ENST00000267460.4:c.1093G>A	p.Ala365Thr	p.A365T	ENST00000267460	NM_021255.2	365	Gct/Act	0	1	1	UPI0000062262	0	NA	ENST00000267460		ENSG00000139946	8828		78	2.19		HGNC	p.A365T		PELI2		SNV							ENST00000267460	protein_coding	getma.org/?cm=var&var=hg19,14,56763714,G,A&fts=all		hmmpanther:PTHR12098:SF5,hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886		A/T		A	medium	1379/5909		getma.org/?cm=msa&ty=f&p=PELI2_HUMAN&rb=5&re=420&var=A365T	tolerated(0.08)	Q659D8_HUMAN,H0YNF4_HUMAN,H0YK56_HUMAN			YES	PELI2,missense_variant,p.Ala365Thr,ENST00000267460,NM_021255.2;							MODERATE	1093/1263	A365T	PELI2_HUMAN			Transcript		benign(0.088)	.	ENSP00000267460		CCDS9726.1			1	
EML5	0	LGGM	GRCh37	14	89181410	89181410	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	60	34	.	.	ENST00000554922.1:c.1317G>C	p.Gln439His	p.Q439H	ENST00000554922	NM_183387.2	439	caG/caC	0	1		UPI000183882B	0	getma.org/pdb.php?prot=EMAL5_HUMAN&from=354&to=552&var=Q439H	ENST00000380664		ENSG00000165521	18197		94	2.22		HGNC	p.Q439H		EML5		SNV							ENST00000352093	protein_coding	getma.org/?cm=var&var=hg19,14,89181410,C,G&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,Superfamily_domains:SSF50978		Q/H		G	medium	1317/5910		getma.org/?cm=msa&ty=f&p=EMAL5_HUMAN&rb=354&re=552&var=Q439H	deleterious(0)					EML5,missense_variant,p.Gln439His,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Gln439His,ENST00000352093,;EML5,missense_variant,p.Gln439His,ENST00000380664,;EML5,missense_variant,p.Gln22His,ENST00000553281,;							MODERATE	1317/5910	Q439H	EMAL5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000370039					1	
MUC16	0	LGGM	GRCh37	19	9009690	9009690	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	63	44	.	.	ENST00000397910.4:c.39036G>A	p.Pro13012=	p.P13012=	ENST00000397910	NM_024690.2	13012	ccG/ccA	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		107			HGNC	p.P13012P	rs560877359	MUC16	6.06E-05	SNV							ENST00000397910	protein_coding			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,Low_complexity_(Seg):seg,SMART_domains:SM00200		P		T		39240/43816	0.00027			F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,;							LOW	39036/43524			0.000454		Transcript			common_variant	ENSP00000381008	0.000182	CCDS54212.1			1	
PIGS	0	LGGM	GRCh37	17	26890875	26890875	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	56	49	.	.	ENST00000308360.7:c.337G>T	p.Asp113Tyr	p.D113Y	ENST00000308360	NM_033198.3	113	Gac/Tac	0	1	1	UPI000013D7D9	0	NA	ENST00000308360		ENSG00000087111	14937		105	0.69		HGNC	p.D113Y		PIGS		SNV							ENST00000308360	protein_coding	getma.org/?cm=var&var=hg19,17,26890875,C,A&fts=all		Pfam_domain:PF10510,hmmpanther:PTHR21072		D/Y		A	neutral	713/2877		getma.org/?cm=msa&ty=f&p=PIGS_HUMAN&rb=21&re=550&var=D113Y	deleterious(0.04)	Q9BVC1_HUMAN,Q96IR5_HUMAN,F5H019_HUMAN			YES	PIGS,missense_variant,p.Asp113Tyr,ENST00000308360,NM_033198.3;PIGS,missense_variant,p.Asp105Tyr,ENST00000395346,;PIGS,missense_variant,p.Asp52Tyr,ENST00000543734,;PIGS,non_coding_transcript_exon_variant,,ENST00000584413,;PIGS,upstream_gene_variant,,ENST00000465444,;PIGS,upstream_gene_variant,,ENST00000580968,;PIGS,3_prime_UTR_variant,,ENST00000268758,;PIGS,3_prime_UTR_variant,,ENST00000582721,;PIGS,3_prime_UTR_variant,,ENST00000584080,;PIGS,non_coding_transcript_exon_variant,,ENST00000583631,;PIGS,non_coding_transcript_exon_variant,,ENST00000577594,;RP11-192H23.4,intron_variant,,ENST00000481916,;PIGS,upstream_gene_variant,,ENST00000484580,;PIGS,upstream_gene_variant,,ENST00000582615,;PIGS,upstream_gene_variant,,ENST00000577620,;							MODERATE	337/1668	D113Y	PIGS_HUMAN			Transcript		benign(0.389)	.	ENSP00000309430		CCDS11235.1			1	
CHAMP1	0	LGGM	GRCh37	13	115091193	115091193	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	60	55	.	.	ENST00000361283.1:c.1876A>G	p.Ser626Gly	p.S626G	ENST00000361283	NM_032436.2	626	Agc/Ggc	0	1	1	UPI00001C1F5B	0	NA	ENST00000361283		ENSG00000198824	20311		115	0.69		HGNC	p.S626G		CHAMP1		SNV			1				ENST00000361283	protein_coding	getma.org/?cm=var&var=hg19,13,115091193,A,G&fts=all				S/G		G	neutral	2185/3788		getma.org/?cm=msa&ty=f&p=CHAP1_HUMAN&rb=601&re=800&var=S626G	tolerated(0.13)	S4R3K0_HUMAN			YES	CHAMP1,missense_variant,p.Ser626Gly,ENST00000361283,NM_032436.2,NM_001164145.1,NM_001164144.1;CHAMP1,downstream_gene_variant,,ENST00000463003,;LINC01054,downstream_gene_variant,,ENST00000446989,;CHAMP1,downstream_gene_variant,,ENST00000478022,;							MODERATE	1876/2439	S626G	CHAP1_HUMAN			Transcript		benign(0.068)	.	ENSP00000354730		CCDS9545.1			1	
OR2M7	0	LGGM	GRCh37	1	248487591	248487591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	220	57	.	.	ENST00000317965.2:c.280A>G	p.Met94Val	p.M94V	ENST00000317965	NM_001004691.1	94	Atg/Gtg	0	1	1	UPI000004B236	0	getma.org/pdb.php?prot=OR2M7_HUMAN&from=1&to=138&var=M94V	ENST00000317965		ENSG00000177186	19594		277	-0.91		HGNC	p.M94V	rs759299595	OR2M7		SNV							ENST00000317965	protein_coding	getma.org/?cm=var&var=hg19,1,248487591,T,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		M/V		C	neutral	309/1006	0.00012	getma.org/?cm=msa&ty=f&p=OR2M7_HUMAN&rb=1&re=138&var=M94V	tolerated(0.3)				YES	OR2M7,missense_variant,p.Met94Val,ENST00000317965,NM_001004691.1;							MODERATE	280/939	M94V	OR2M7_HUMAN			Transcript		benign(0)	.	ENSP00000324557	6.59E-05	CCDS31111.1			1	
LRRTM3	0	LGGM	GRCh37	10	68686985	68686985	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	64	62	.	.	ENST00000361320.4:c.311C>T	p.Ala104Val	p.A104V	ENST00000361320	NM_178011.3	104	gCt/gTt	0	1	1	UPI0000088C0F	0	getma.org/pdb.php?prot=LRRT3_HUMAN&from=65&to=121&var=A104V	ENST00000361320		ENSG00000198739	19410		126	1.195		HGNC	p.A104V		LRRTM3		SNV							ENST00000373722	protein_coding	getma.org/?cm=var&var=hg19,10,68686985,C,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF54,SMART_domains:SM00369,Superfamily_domains:SSF52058		A/V		T	low	889/4358		getma.org/?cm=msa&ty=f&p=LRRT3_HUMAN&rb=65&re=121&var=A104V	deleterious(0)	B4DFC3_HUMAN			YES	LRRTM3,missense_variant,p.Ala104Val,ENST00000361320,NM_178011.3;CTNNA3,intron_variant,,ENST00000433211,NM_013266.2;CTNNA3,intron_variant,,ENST00000373744,NM_001127384.1;CTNNA3,intron_variant,,ENST00000494580,;							MODERATE	311/1746	A104V	LRRT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355187		CCDS7270.1			1	
DRP2	0	LGGM	GRCh37	X	100486713	100486713	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080074	H080074N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	6	65	.	.	ENST00000395209.3:c.77A>C	p.His26Pro	p.H26P	ENST00000395209	NM_001939.2	26	cAt/cCt	0	1	1	UPI000013D388	0	NA	ENST00000395209		ENSG00000102385	3032		71	0.895		HGNC	p.H26P		DRP2		SNV							ENST00000395209	protein_coding	getma.org/?cm=var&var=hg19,X,100486713,A,C&fts=all		hmmpanther:PTHR11915,PIRSF_domain:PIRSF038205		H/P		C	low	604/7277		getma.org/?cm=msa&ty=f&p=DRP2_HUMAN&rb=1&re=200&var=H26P	deleterious_low_confidence(0.03)				YES	DRP2,missense_variant,p.His26Pro,ENST00000395209,NM_001939.2;DRP2,missense_variant,p.His26Pro,ENST00000402866,;DRP2,missense_variant,p.His26Pro,ENST00000538510,;DRP2,intron_variant,,ENST00000541709,NM_001171184.1;DRP2,missense_variant,p.His26Pro,ENST00000372916,;							MODERATE	77/2874	H26P	DRP2_HUMAN			Transcript		benign(0.029)	.	ENSP00000378635		CCDS14480.2			1	
KIAA2026	0	LGGM	GRCh37	9	5922997	5922997	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080074	H080074N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	19	67	.	.	ENST00000399933.3:c.2999A>G	p.Gln1000Arg	p.Q1000R	ENST00000399933	NM_001017969.2	1000	cAg/cGg	0	1	1	UPI0001533DB0	0	NA	ENST00000399933		ENSG00000183354	23378		86	0.805		HGNC	p.Q970R		KIAA2026		SNV							ENST00000381461	protein_coding	getma.org/?cm=var&var=hg19,9,5922997,T,C&fts=all		hmmpanther:PTHR31095:SF2,hmmpanther:PTHR31095		Q/R		C	low	2999/6988		getma.org/?cm=msa&ty=f&p=K2026_HUMAN&rb=771&re=1189&var=Q1000R	deleterious(0.03)				YES	KIAA2026,missense_variant,p.Gln1000Arg,ENST00000399933,NM_001017969.2;KIAA2026,missense_variant,p.Gln970Arg,ENST00000381461,;KIAA2026,3_prime_UTR_variant,,ENST00000540714,;KIAA2026,upstream_gene_variant,,ENST00000436015,;							MODERATE	2999/6312	Q1000R	K2026_HUMAN			Transcript		benign(0.275)	.	ENSP00000382815					1	
NEB	0	LGGM	GRCh37	2	152474981	152474981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080074	H080074N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080074N.bam, H080074T.bam	Illumina HiSeq	106	72	.	.	ENST00000397345.3:c.10884G>T	p.Lys3628Asn	p.K3628N	ENST00000397345	NM_001164508.1	3628	aaG/aaT	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		178	3.35		HGNC	p.K3385N		NEB		SNV			1				ENST00000409198	protein_coding	getma.org/?cm=var&var=hg19,2,152474981,C,A&fts=all		Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		K/N		A	medium	10303/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=3345&re=3413&var=K3385N		J3QK84_HUMAN				NEB,missense_variant,p.Lys3628Asn,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Lys3628Asn,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Lys3628Asn,ENST00000604864,;NEB,missense_variant,p.Lys3628Asn,ENST00000603639,;NEB,missense_variant,p.Lys3385Asn,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Lys3385Asn,ENST00000172853,;NEB,upstream_gene_variant,,ENST00000486320,;							MODERATE	10155/20010	K3385N				Transcript		probably_damaging(0.946)	.	ENSP00000172853					1	
EMID1	0	LGGM	GRCh37	22	29628311	29628311	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	2	2	.	.	ENST00000334018.6:c.743C>A	p.Pro248His	p.P248H	ENST00000334018	NM_001267895.1	248	cCt/cAt	0	1	1	UPI00001A796B	0	NA	ENST00000334018		ENSG00000186998	18036		4	2.745		HGNC	p.P248H		EMID1		SNV							ENST00000404820	protein_coding	getma.org/?cm=var&var=hg19,22,29628311,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF363,Low_complexity_(Seg):seg		P/H		A	medium	931/2173		getma.org/?cm=msa&ty=f&p=EMID1_HUMAN&rb=212&re=270&var=P246H	tolerated(0.1)	F8WDX7_HUMAN			YES	EMID1,missense_variant,p.Pro248His,ENST00000334018,NM_001267895.1,NM_133455.3;EMID1,missense_variant,p.Pro248His,ENST00000404820,;EMID1,missense_variant,p.Pro248His,ENST00000404755,;EMID1,missense_variant,p.Pro111His,ENST00000433143,;EMID1,intron_variant,,ENST00000429226,;EMID1,downstream_gene_variant,,ENST00000430127,;EMID1,non_coding_transcript_exon_variant,,ENST00000484039,;EMID1,3_prime_UTR_variant,,ENST00000435427,;EMID1,non_coding_transcript_exon_variant,,ENST00000473933,;EMID1,upstream_gene_variant,,ENST00000487477,;EMID1,upstream_gene_variant,,ENST00000488820,;							MODERATE	743/1332	P246H	EMID1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000335481		CCDS33630.1			1	
TGM1	0	LGGM	GRCh37	14	24729739	24729739	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	27	3	.	.	ENST00000206765.6:c.674G>A	p.Arg225His	p.R225H	ENST00000206765	NM_000359.2	225	cGc/cAc	0	1	1	UPI000000164D	0	getma.org/pdb.php?prot=TGM1_HUMAN&from=110&to=229&var=R225H	ENST00000206765		ENSG00000092295	11777		30	0.77		HGNC	p.R225H	rs549195122,COSM2033051	TGM1	0.000121	SNV			1	9.61E-05		0,1	ENST00000206765	protein_coding	getma.org/?cm=var&var=hg19,14,24729739,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00868,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF13,Superfamily_domains:SSF81296		R/H		T	neutral	798/2777	1.50E-05	getma.org/?cm=msa&ty=f&p=TGM1_HUMAN&rb=110&re=229&var=R225H	tolerated(0.09)	H0YNM4_HUMAN,H0YN27_HUMAN,H0YMQ8_HUMAN,H0YLT9_HUMAN,H0YLJ6_HUMAN,H0YKI6_HUMAN,B4DWR7_HUMAN			YES	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,;					0,1		MODERATE	674/2454	R225H	TGM1_HUMAN	0.000151		Transcript		probably_damaging(0.991)	.	ENSP00000206765	4.12E-05	CCDS9622.1			1	
CLCA1	0	LGGM	GRCh37	1	86952210	86952210	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	33	3	.	.	ENST00000234701.3:c.956C>A	p.Thr319Asn	p.T319N	ENST00000234701		319	aCt/aAt	0	1	1	UPI00001AE689	0	NA	ENST00000234701		ENSG00000016490	2015		36	-0.22		HGNC	p.T319N		CLCA1		SNV							ENST00000234701	protein_coding	getma.org/?cm=var&var=hg19,1,86952210,C,A&fts=all		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		T/N		A	neutral	1307/3310		getma.org/?cm=msa&ty=f&p=CLCA1_HUMAN&rb=307&re=472&var=T319N	tolerated(0.51)				YES	CLCA1,missense_variant,p.Thr319Asn,ENST00000234701,;CLCA1,missense_variant,p.Thr319Asn,ENST00000394711,NM_001285.3;							MODERATE	956/2745	T319N	CLCA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000234701		CCDS709.1			1	
SLC17A2	0	LGGM	GRCh37	6	25916011	25916011	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	44	3	.	.	ENST00000360488.3:c.1016G>C	p.Arg339Thr	p.R339T	ENST00000360488	NM_005835.2	339	aGg/aCg	0	1		UPI0000470B4D	0	NA	ENST00000265425		ENSG00000112337	10930		47	2.015		HGNC	p.R339T		SLC17A2		SNV							ENST00000265425	protein_coding	getma.org/?cm=var&var=hg19,6,25916011,C,G&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF193,Superfamily_domains:SSF103473		R/T		G	medium	1037/1493		getma.org/?cm=msa&ty=f&p=NPT3_HUMAN&rb=25&re=425&var=R339T	deleterious(0)					SLC17A2,missense_variant,p.Arg339Thr,ENST00000377850,NM_001286123.1;SLC17A2,missense_variant,p.Arg339Thr,ENST00000360488,NM_005835.2;SLC17A2,missense_variant,p.Arg339Thr,ENST00000265425,;							MODERATE	1016/1320	R339T	NPT3_HUMAN			Transcript		possibly_damaging(0.572)	.	ENSP00000265425					1	
JADE3	0	LGGM	GRCh37	X	46887302	46887302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	31	3	.	.	ENST00000218343.4:c.484C>A	p.Pro162Thr	p.P162T	ENST00000218343	NM_014735.3	162	Cca/Aca	0	1	1	UPI0000073DE6	0	NA	ENST00000218343		ENSG00000102221	22982		34	1.84		HGNC	p.P162T		JADE3		SNV							ENST00000397189	protein_coding	getma.org/?cm=var&var=hg19,X,46887302,C,A&fts=all		Pfam_domain:PF10513,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF27		P/T		A	low	782/4931		getma.org/?cm=msa&ty=f&p=JADE3_HUMAN&rb=30&re=178&var=P162T	tolerated(0.13)	F2Z3N8_HUMAN,F2Z2B6_HUMAN			YES	JADE3,missense_variant,p.Pro162Thr,ENST00000218343,NM_014735.3;JADE3,missense_variant,p.Pro162Thr,ENST00000397189,NM_001077445.1;JADE3,missense_variant,p.Pro162Thr,ENST00000424392,;JADE3,downstream_gene_variant,,ENST00000455411,;							MODERATE	484/2472	P162T	JADE3_HUMAN			Transcript		benign(0.158)	.	ENSP00000218343		CCDS14271.1			1	
VTCN1	0	LGGM	GRCh37	1	117699224	117699224	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	27	3	.	.	ENST00000369458.3:c.417G>T	p.Gly139=	p.G139=	ENST00000369458	NM_024626.3	139	ggG/ggT	0	1	1	UPI00000389E3	0		ENST00000369458		ENSG00000134258	28873		30			HGNC	p.G44G		VTCN1		SNV							ENST00000539893	protein_coding			Gene3D:2.60.40.10,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0,SMART_domains:SM00409,Superfamily_domains:SSF48726		G		A		496/2612							YES	VTCN1,synonymous_variant,p.=,ENST00000369458,NM_024626.3;VTCN1,synonymous_variant,p.=,ENST00000359008,;VTCN1,synonymous_variant,p.=,ENST00000539893,NM_001253849.1;VTCN1,intron_variant,,ENST00000328189,NM_001253850.1;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,downstream_gene_variant,,ENST00000488493,;							LOW	417/849		VTCN1_HUMAN			Transcript			.	ENSP00000358470		CCDS894.1			1	
EZH2	0	LGGM	GRCh37	7	148508731	148508731	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	42	3	.	.	ENST00000320356.2:c.1933G>T	p.Glu645Ter	p.E645*	ENST00000320356	NM_004456.4	645	Gaa/Taa	0	1		UPI000002E1D6	0	NA	ENST00000460911		ENSG00000106462	3527		45	0		HGNC	p.E645X		EZH2		SNV			1				ENST00000320356	protein_coding	getma.org/?cm=var&var=hg19,7,148508731,C,A&fts=all		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF287,SMART_domains:SM00317,Superfamily_domains:SSF82199		E/*		A	NA	2007/2591		NA		Q75MP9_HUMAN,Q6R125_HUMAN				EZH2,stop_gained,p.Glu645Ter,ENST00000320356,NM_004456.4,NM_001203248.1,NM_001203247.1;EZH2,stop_gained,p.Glu640Ter,ENST00000460911,;EZH2,stop_gained,p.Glu589Ter,ENST00000476773,NM_001203249.1;EZH2,stop_gained,p.Glu589Ter,ENST00000478654,;EZH2,stop_gained,p.Glu601Ter,ENST00000350995,NM_152998.2;EZH2,stop_gained,p.Glu589Ter,ENST00000541220,;EZH2,stop_gained,p.Glu631Ter,ENST00000483967,;EZH2,3_prime_UTR_variant,,ENST00000492143,;EZH2,non_coding_transcript_exon_variant,,ENST00000469631,;							HIGH	1918/2241	E640*	EZH2_HUMAN			Transcript			.	ENSP00000419711		CCDS56516.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102498755	102498755	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	44	3	.	.	ENST00000360184.4:c.10030C>T	p.Arg3344Trp	p.R3344W	ENST00000360184	NM_001376.4	3344	Cgg/Tgg	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=3199&to=3536&var=R3344W	ENST00000360184		ENSG00000197102	2961		47	2.865		HGNC	p.R3344W		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102498755,C,T&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12777		R/W		T	medium	10194/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=3199&re=3536&var=R3344W		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Arg3344Trp,ENST00000360184,NM_001376.4;DYNC1H1,upstream_gene_variant,,ENST00000553423,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557551,;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,;DYNC1H1,upstream_gene_variant,,ENST00000556791,;DYNC1H1,downstream_gene_variant,,ENST00000555204,;DYNC1H1,downstream_gene_variant,,ENST00000554854,;							MODERATE	10030/13941	R3344W	DYHC1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000348965		CCDS9966.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	75	6	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	81			HGNC	p.P55P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000399808	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
ANKRD44	0	LGGM	GRCh37	2	197975569	197975569	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	41	4	.	.	ENST00000409919.1:c.907-1G>T		p.X303_splice	ENST00000409919	NM_153697.2			0	1		UPI0001AE772B	0		ENST00000282272		ENSG00000065413	25259		45			HGNC	-		ANKRD44		SNV							ENST00000424317	protein_coding							A		-/2958				Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,splice_acceptor_variant,,ENST00000328737,;ANKRD44,splice_acceptor_variant,,ENST00000450567,;ANKRD44,splice_acceptor_variant,,ENST00000337207,;ANKRD44,splice_acceptor_variant,,ENST00000282272,NM_001195144.1;ANKRD44,splice_acceptor_variant,,ENST00000424317,;ANKRD44,splice_acceptor_variant,,ENST00000409153,;ANKRD44,splice_acceptor_variant,,ENST00000539527,;ANKRD44,splice_acceptor_variant,,ENST00000409919,NM_153697.2;ANKRD44,upstream_gene_variant,,ENST00000422886,;ANKRD44,upstream_gene_variant,,ENST00000473081,;							HIGH	883/2958					Transcript			.	ENSP00000282272					1	
PDE10A	0	LGGM	GRCh37	6	165846497	165846497	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	25	4	.	.	ENST00000539869.2:c.658T>C	p.Trp220Arg	p.W220R	ENST00000539869	NM_001130690.2	220	Tgg/Cgg	0	1		UPI0000039E34	0	getma.org/pdb.php?prot=PDE10_HUMAN&from=93&to=234&var=W210R	ENST00000366882		ENSG00000112541	8772		29	1.04		HGNC	p.W210R		PDE10A		SNV							ENST00000354448	protein_coding	getma.org/?cm=var&var=hg19,6,165846497,A,G&fts=all		Superfamily_domains:SSF55781,SMART_domains:SM00065,Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79		W/R		G	low	783/8233		getma.org/?cm=msa&ty=f&p=PDE10_HUMAN&rb=93&re=234&var=W210R	tolerated(0.35)	Q9HCQ1_HUMAN				PDE10A,missense_variant,p.Trp210Arg,ENST00000366882,;PDE10A,missense_variant,p.Trp210Arg,ENST00000354448,;PDE10A,missense_variant,p.Trp220Arg,ENST00000539869,NM_001130690.2;							MODERATE	628/2340	W210R	PDE10_HUMAN			Transcript		benign(0.026)	.	ENSP00000355847					1	
LRP1	0	LGGM	GRCh37	12	57589763	57589763	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	25	4	.	.	ENST00000243077.3:c.8678A>G	p.Lys2893Arg	p.K2893R	ENST00000243077	NM_002332.2	2893	aAg/aGg	0	1	1	UPI00001B044F	0	getma.org/pdb.php?prot=LRP1_HUMAN&from=2856&to=2897&var=K2893R	ENST00000243077		ENSG00000123384	6692		29	0		HGNC	p.K2893R		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57589763,A,G&fts=all		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00192		K/R		G	neutral	9144/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=2856&re=2897&var=K2893R		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Lys2893Arg,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,downstream_gene_variant,,ENST00000408438,;LRP1,upstream_gene_variant,,ENST00000555941,;							MODERATE	8678/13635	K2893R	LRP1_HUMAN			Transcript		benign(0.11)	.	ENSP00000243077		CCDS8932.1			1	
MLXIP	0	LGGM	GRCh37	12	122618138	122618138	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	9	5	.	.	ENST00000319080.7:c.1336A>T	p.Ile446Phe	p.I446F	ENST00000319080	NM_014938.4_dupl16	446	Atc/Ttc	0	1	1	UPI0000D6226F	0		ENST00000319080		ENSG00000175727	17055		14			HGNC	p.I53F		MLXIP		SNV							ENST00000538698	protein_coding			hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23,Low_complexity_(Seg):seg		I/F		T		1468/8427			tolerated(0.7)	F5H321_HUMAN			YES	MLXIP,missense_variant,p.Ile446Phe,ENST00000319080,NM_014938.4_dupl16;MLXIP,missense_variant,p.Ile53Phe,ENST00000538698,;MLXIP,missense_variant,p.Ile36Phe,ENST00000377037,;MLXIP,upstream_gene_variant,,ENST00000366272,;MLXIP,downstream_gene_variant,,ENST00000535430,;MLXIP,upstream_gene_variant,,ENST00000542417,;MLXIP,upstream_gene_variant,,ENST00000535996,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,non_coding_transcript_exon_variant,,ENST00000538061,;MLXIP,upstream_gene_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000535876,;							MODERATE	1336/2760		MLXIP_HUMAN			Transcript		benign(0.021)	.	ENSP00000312834					1	
XIRP2	0	LGGM	GRCh37	2	168115534	168115534	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	18	6	.	.	ENST00000409195.1:c.*1207C>T		*403*	ENST00000409195	NM_152381.5			0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		24			HGNC	p.S826S	rs539089101	XIRP2		SNV							ENST00000409756	protein_coding		T:0					T		11946/12675				J3KNB1_HUMAN	T:0	T:0.001	YES	XIRP2,synonymous_variant,p.=,ENST00000409728,NM_001199143.1;XIRP2,synonymous_variant,p.=,ENST00000409043,NM_001079810.3;XIRP2,synonymous_variant,p.=,ENST00000409756,;XIRP2,synonymous_variant,p.=,ENST00000420519,;XIRP2,synonymous_variant,p.=,ENST00000409605,NM_001199145.1;XIRP2,3_prime_UTR_variant,,ENST00000409195,NM_152381.5;XIRP2,3_prime_UTR_variant,,ENST00000295237,;XIRP2,3_prime_UTR_variant,,ENST00000409273,NM_001199144.1;		T:0.0002					MODIFIER	-/10650				T:0	Transcript			.	ENSP00000386840		CCDS42769.1		T:0	1	
FAM182A	0	LGGM	GRCh37	20	26061832	26061832	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	5	6	.	.	ENST00000376398.2:n.852A>C		*284*	ENST00000376398				0	1	1		0		ENST00000376398		ENSG00000125804	16222	0.0938	11			HGNC	p.R62R	rs780544023,COSM1483511	FAM182A	0.0423	SNV				0.0292		0,1	ENST00000246000	lincRNA							C		852/5070	0.049						YES	FAM182A,non_coding_transcript_exon_variant,,ENST00000376398,;FAM182A,downstream_gene_variant,,ENST00000471057,;FAM182A,non_coding_transcript_exon_variant,,ENST00000415411,;FAM182A,non_coding_transcript_exon_variant,,ENST00000482133,;	0.202				0,1		MODIFIER				0.0665		Transcript			common_variant		0.0297		0.0172		1	
MYH11	0	LGGM	GRCh37	16	15844029	15844029	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	18	6	.	.	ENST00000396324.3:c.2045T>C	p.Phe682Ser	p.F682S	ENST00000396324	NM_001040114.1	682	tTc/tCc	0	1		UPI000012FB86	0	getma.org/pdb.php?prot=MYH11_HUMAN&from=87&to=771&var=F675S	ENST00000300036		ENSG00000133392	7569		24	4.67		HGNC	p.F682S		MYH11		SNV			1				ENST00000396324	protein_coding	getma.org/?cm=var&var=hg19,16,15844029,A,G&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540		F/S		G	high	2134/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=87&re=771&var=F675S		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Phe682Ser,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Phe682Ser,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Phe675Ser,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Phe675Ser,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;							MODERATE	2024/5919	F675S	MYH11_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000300036		CCDS10565.1			1	
ANKRD11	0	LGGM	GRCh37	16	89350510	89350510	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	24	7	.	.	ENST00000301030.4:c.2440T>G	p.Phe814Val	p.F814V	ENST00000301030	NM_001256183.1	814	Ttt/Gtt	0	1	1	UPI00004569E1	0	NA	ENST00000301030		ENSG00000167522	21316		31	1.95		HGNC	p.F814V		ANKRD11		SNV			1				ENST00000301030	protein_coding	getma.org/?cm=var&var=hg19,16,89350510,A,C&fts=all		hmmpanther:PTHR24145		F/V		C	medium	2901/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=770&re=1560&var=F814V					YES	ANKRD11,missense_variant,p.Phe814Val,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Phe814Val,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							MODERATE	2440/7992	F814V	ANR11_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000301030		CCDS32513.1			1	
TP53	0	LGGM	GRCh37	17	7578272	7578272	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	5	7	.	.	ENST00000269305.4:c.577C>G	p.His193Asp	p.H193D	ENST00000269305	NM_001126112.2	193	Cat/Gat	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H193D	ENST00000269305		ENSG00000141510	11998		12	3.34		HGNC	p.H193D	TP53_g.12646C>G,COSM44002,COSM251417,COSM251416,COSM251418,COSM251419	TP53		SNV			1			0,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578272,G,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		H/D		C	medium	767/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H193D	deleterious(0)	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			YES	TP53,missense_variant,p.His193Asp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His193Asp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His193Asp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His193Asp,ENST00000445888,;TP53,missense_variant,p.His193Asp,ENST00000359597,;TP53,missense_variant,p.His193Asp,ENST00000413465,;TP53,missense_variant,p.His61Asp,ENST00000509690,;TP53,missense_variant,p.His100Asp,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,;					0,1,1,1,1,1		MODERATE	577/1182	H193D	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
C7orf72	0	LGGM	GRCh37	7	50198723	50198723	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	38	7	.	.	ENST00000297001.6:c.1275C>A	p.Tyr425Ter	p.Y425*	ENST00000297001	NM_001161834.2	425	taC/taA	0	1	1	UPI00001D7424	0	NA	ENST00000297001		ENSG00000164500	22564		45	0		HGNC	p.Y425X		C7orf72		SNV							ENST00000297001	protein_coding	getma.org/?cm=var&var=hg19,7,50198723,C,A&fts=all		Pfam_domain:PF15073		Y/*		A	NA	1325/2028		NA					YES	C7orf72,stop_gained,p.Tyr425Ter,ENST00000297001,NM_001161834.2;							HIGH	1275/1317	Y425*	CG072_HUMAN			Transcript			.	ENSP00000297001		CCDS47585.1			1	
SLC16A6	0	LGGM	GRCh37	17	66274417	66274417	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	85	8	.	.	ENST00000327268.4:c.45T>G	p.Tyr15Ter	p.Y15*	ENST00000327268	NM_001174166.1	15	taT/taG	0	1	1	UPI00001AA3B9	0	NA	ENST00000327268		ENSG00000108932	10927		93	0		HGNC	p.Y15X		SLC16A6		SNV							ENST00000582867	protein_coding	getma.org/?cm=var&var=hg19,17,66274417,A,C&fts=all		hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF20		Y/*		C	NA	210/3807		NA		J3KS02_HUMAN,A1L174_HUMAN			YES	SLC16A6,stop_gained,p.Tyr15Ter,ENST00000327268,NM_001174166.1;SLC16A6,stop_gained,p.Tyr15Ter,ENST00000580666,NM_004694.4;SLC16A6,stop_gained,p.Tyr15Ter,ENST00000582867,;SLC16A6,stop_gained,p.Tyr15Ter,ENST00000583477,;ARSG,intron_variant,,ENST00000448504,NM_014960.4;ARSG,downstream_gene_variant,,ENST00000578726,;							HIGH	45/1572	Y15*	MOT7_HUMAN			Transcript			.	ENSP00000319991		CCDS11675.1			1	
FOXK1	0	LGGM	GRCh37	7	4800881	4800881	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	12	8	.	.	ENST00000328914.4:c.1883A>G	p.His628Arg	p.H628R	ENST00000328914	NM_001037165.1	628	cAt/cGt	0	1	1	UPI00004158EB	0	NA	ENST00000328914		ENSG00000164916	23480		20	1.87		HGNC	p.H628R		FOXK1		SNV							ENST00000328914	protein_coding	getma.org/?cm=var&var=hg19,7,4800881,A,G&fts=all		hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829		H/R		G	low	1883/11181		getma.org/?cm=msa&ty=f&p=FOXK1_HUMAN&rb=431&re=732&var=H628R	deleterious(0.01)	B3KV39_HUMAN			YES	FOXK1,missense_variant,p.His628Arg,ENST00000328914,NM_001037165.1;FOXK1,missense_variant,p.His465Arg,ENST00000446823,;FOXK1,downstream_gene_variant,,ENST00000496023,;							MODERATE	1883/2202	H628R	FOXK1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000328720		CCDS34591.1			1	
TBC1D9B	0	LGGM	GRCh37	5	179318384	179318384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	15	9	.	.	ENST00000356834.3:c.1039A>T	p.Arg347Trp	p.R347W	ENST00000356834	NM_198868.2	347	Agg/Tgg	0	1	1	UPI000034ECFF	0	NA	ENST00000356834		ENSG00000197226	29097		24	2.51		HGNC	p.R347W		TBC1D9B		SNV							ENST00000355235	protein_coding	getma.org/?cm=var&var=hg19,5,179318384,T,A&fts=all		Pfam_domain:PF02893,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,SMART_domains:SM00568		R/W		A	medium	1077/5173		getma.org/?cm=msa&ty=f&p=TBC9B_HUMAN&rb=288&re=356&var=R347W	deleterious(0.03)				YES	TBC1D9B,missense_variant,p.Arg347Trp,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Arg347Trp,ENST00000355235,NM_015043.3;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522029,;TBC1D9B,intron_variant,,ENST00000517782,;TBC1D9B,upstream_gene_variant,,ENST00000518120,;TBC1D9B,downstream_gene_variant,,ENST00000522224,;							MODERATE	1039/3753	R347W	TBC9B_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000349291		CCDS43408.1			1	
CCDC129	0	LGGM	GRCh37	7	31594504	31594504	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	17	9	.	.	ENST00000451887.2:c.323T>C	p.Ile108Thr	p.I108T	ENST00000451887	NM_001257968.1	108	aTt/aCt	0	1		UPI00015A2549	0	NA	ENST00000407970		ENSG00000180347	27363		26	1.905		HGNC	p.I82T		CCDC129		SNV							ENST00000409717	protein_coding	getma.org/?cm=var&var=hg19,7,31594504,T,C&fts=all		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12		I/T		C	medium	283/3269		getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=I82T	tolerated(0.17)	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN				CCDC129,missense_variant,p.Ile82Thr,ENST00000319386,;CCDC129,missense_variant,p.Ile108Thr,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Ile82Thr,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,missense_variant,p.Ile82Thr,ENST00000454513,;CCDC129,missense_variant,p.Ile82Thr,ENST00000409717,;CCDC129,missense_variant,p.Ile82Thr,ENST00000456011,;CCDC129,5_prime_UTR_variant,,ENST00000409210,;CCDC129,non_coding_transcript_exon_variant,,ENST00000482748,;CCDC129,non_coding_transcript_exon_variant,,ENST00000471139,;							MODERATE	245/3135	I82T	CC129_HUMAN			Transcript		benign(0.037)	.	ENSP00000384416		CCDS5435.2			1	
IQGAP2	0	LGGM	GRCh37	5	75967785	75967785	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	19	9	.	.	ENST00000274364.6:c.3045A>G	p.Leu1015=	p.L1015=	ENST00000274364	NM_006633.2	1015	ctA/ctG	0	1	1	UPI000020CB2C	0		ENST00000274364		ENSG00000145703	6111		28			HGNC	p.L1015L		IQGAP2		SNV							ENST00000274364	protein_coding			Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF12,SMART_domains:SM00323		L		G		3342/5844				E7EWC2_HUMAN,D6R939_HUMAN			YES	IQGAP2,synonymous_variant,p.=,ENST00000274364,NM_006633.2,NM_001285460.1;IQGAP2,synonymous_variant,p.=,ENST00000379730,;IQGAP2,synonymous_variant,p.=,ENST00000505766,;IQGAP2,synonymous_variant,p.=,ENST00000502745,NM_001285462.1;IQGAP2,synonymous_variant,p.=,ENST00000396234,NM_001285461.1;IQGAP2,downstream_gene_variant,,ENST00000514001,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000512383,;IQGAP2,non_coding_transcript_exon_variant,,ENST00000504558,;IQGAP2,upstream_gene_variant,,ENST00000504477,;IQGAP2,upstream_gene_variant,,ENST00000509741,;							LOW	3045/4728		IQGA2_HUMAN			Transcript			.	ENSP00000274364		CCDS34188.1			1	
SLC4A5	0	LGGM	GRCh37	2	74458414	74458414	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	19	9	.	.	ENST00000377634.4:c.2796C>A	p.Ile932=	p.I932=	ENST00000377634		932	atC/atA	0	1		UPI000007386D	0		ENST00000346834		ENSG00000188687	18168		28			HGNC	p.H835N		SLC4A5		SNV							ENST00000425249	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955		I		T		3194/6104				Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,missense_variant,p.His873Asn,ENST00000423644,;SLC4A5,missense_variant,p.His835Asn,ENST00000425249,;SLC4A5,synonymous_variant,p.=,ENST00000394019,NM_133478.2;SLC4A5,synonymous_variant,p.=,ENST00000346834,;SLC4A5,synonymous_variant,p.=,ENST00000359484,;SLC4A5,synonymous_variant,p.=,ENST00000377634,;SLC4A5,synonymous_variant,p.=,ENST00000357822,NM_021196.3;SLC4A5,synonymous_variant,p.=,ENST00000358683,;SLC4A5,synonymous_variant,p.=,ENST00000377632,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;SLC4A5,upstream_gene_variant,,ENST00000480696,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;							LOW	2796/3123		S4A5_HUMAN			Transcript			.	ENSP00000251768					1	
LGALS3	0	LGGM	GRCh37	14	55604835	55604835	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	4	9	.	.	ENST00000254301.9:c.91G>A	p.Ala31Thr	p.A31T	ENST00000254301	NM_002306.3	31	Gct/Act	0	1	1	UPI000004E613	0	NA	ENST00000254301		ENSG00000131981	6563		13	1.95		HGNC	p.A31T		LGALS3		SNV							ENST00000254301	protein_coding	getma.org/?cm=var&var=hg19,14,55604835,G,A&fts=all		hmmpanther:PTHR11346,Low_complexity_(Seg):seg		A/T		A	medium	352/1146		getma.org/?cm=msa&ty=f&p=LEG3_HUMAN&rb=5&re=83&var=A31T	tolerated(0.26)	Q8IXB9_HUMAN,Q86TY5_HUMAN,G3V407_HUMAN			YES	LGALS3,missense_variant,p.Ala31Thr,ENST00000254301,NM_002306.3;LGALS3,missense_variant,p.Ala31Thr,ENST00000554715,;LGALS3,missense_variant,p.Ala31Thr,ENST00000553493,;LGALS3,non_coding_transcript_exon_variant,,ENST00000553755,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556322,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556263,;LGALS3,non_coding_transcript_exon_variant,,ENST00000556438,;							MODERATE	91/753	A31T	LEG3_HUMAN			Transcript		unknown(0)	.	ENSP00000254301		CCDS41956.1			1	
ARHGEF25	0	LGGM	GRCh37	12	58010222	58010222	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	15	10	.	.	ENST00000333972.7:c.1693C>T	p.Leu565=	p.L565=	ENST00000333972	NM_001111270.2	565	Ctg/Ttg	0	1		UPI00003668DB	0		ENST00000286494		ENSG00000240771	30275		25			HGNC	p.L565L		ARHGEF25		SNV							ENST00000333972	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22826:SF117,hmmpanther:PTHR22826		L		T		2036/2552								ARHGEF25,synonymous_variant,p.=,ENST00000286494,NM_182947.3;ARHGEF25,synonymous_variant,p.=,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,;							LOW	1576/1743		ARHGP_HUMAN			Transcript			.	ENSP00000286494		CCDS8947.1			1	
ACAD9	0	LGGM	GRCh37	3	128625021	128625021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	16	10	.	.	ENST00000308982.7:c.1207G>A	p.Gly403Ser	p.G403S	ENST00000308982	NM_014049.4	403	Ggc/Agc	0	1	1	UPI00000498C3	0	getma.org/pdb.php?prot=ACAD9_HUMAN&from=290&to=441&var=G403S	ENST00000308982		ENSG00000177646	21497		26	3.175		HGNC	p.G403S		ACAD9		SNV			1				ENST00000308982	protein_coding	getma.org/?cm=var&var=hg19,3,128625021,G,A&fts=all		Gene3D:1.20.140.10,Pfam_domain:PF00441,PROSITE_patterns:PS00073,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF264,Superfamily_domains:SSF47203		G/S		A	medium	1288/2454		getma.org/?cm=msa&ty=f&p=ACAD9_HUMAN&rb=290&re=441&var=G403S	deleterious(0)	Q9H9W4_HUMAN,Q9BUX5_HUMAN,H0Y8Z9_HUMAN			YES	ACAD9,missense_variant,p.Gly403Ser,ENST00000308982,NM_014049.4;KIAA1257,downstream_gene_variant,,ENST00000511438,;RP11-723O4.6,downstream_gene_variant,,ENST00000508239,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511526,;ACAD9,missense_variant,p.Gly166Ser,ENST00000508971,;ACAD9,3_prime_UTR_variant,,ENST00000511227,;ACAD9,3_prime_UTR_variant,,ENST00000505867,;ACAD9,3_prime_UTR_variant,,ENST00000505192,;ACAD9,non_coding_transcript_exon_variant,,ENST00000511325,;							MODERATE	1207/1866	G403S	ACAD9_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000312618		CCDS3053.1			1	
RTTN	0	LGGM	GRCh37	18	67696019	67696019	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	14	10	.	.	ENST00000255674.6:c.5764G>T	p.Glu1922Ter	p.E1922*	ENST00000255674	NM_173630.3	1922	Gag/Tag	0	1	1	UPI0000201E92	0	NA	ENST00000255674		ENSG00000176225	18654		24	0		HGNC	p.E1922X		RTTN		SNV			1				ENST00000255674	protein_coding	getma.org/?cm=var&var=hg19,18,67696019,C,A&fts=all		Superfamily_domains:SSF48371,Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691		E/*		A	NA	6051/7326		NA					YES	RTTN,stop_gained,p.Glu1922Ter,ENST00000255674,NM_173630.3;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,non_coding_transcript_exon_variant,,ENST00000579986,;RTTN,upstream_gene_variant,,ENST00000583765,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;							HIGH	5764/6681	E1922*	RTTN_HUMAN			Transcript			.	ENSP00000255674		CCDS42443.1			1	
RABEP1	0	LGGM	GRCh37	17	5286484	5286484	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	7	11	.	.	ENST00000262477.6:c.2555A>C	p.Lys852Thr	p.K852T	ENST00000262477	NM_004703.4	852	aAa/aCa	0	1		UPI0002064F7C	0	getma.org/pdb.php?prot=RABE1_HUMAN&from=829&to=862&var=K852T	ENST00000537505		ENSG00000029725	17677		18	0		HGNC	p.K809T		RABEP1		SNV							ENST00000537505	protein_coding	getma.org/?cm=var&var=hg19,17,5286484,A,C&fts=all		Gene3D:1.20.5.730,hmmpanther:PTHR31179,hmmpanther:PTHR31179:SF5		K/T		C	neutral	2639/2875		getma.org/?cm=msa&ty=f&p=RABE1_HUMAN&rb=829&re=862&var=K852T		F5H355_HUMAN				RABEP1,missense_variant,p.Lys852Thr,ENST00000262477,NM_004703.4;RABEP1,missense_variant,p.Lys819Thr,ENST00000408982,NM_001083585.1;RABEP1,missense_variant,p.Lys852Thr,ENST00000546142,;RABEP1,missense_variant,p.Lys809Thr,ENST00000537505,;RABEP1,missense_variant,p.Lys819Thr,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,;							MODERATE	2426/2460	K852T				Transcript		benign(0.111)	.	ENSP00000445408					1	
NME8	0	LGGM	GRCh37	7	37905181	37905181	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	16	11	.	.	ENST00000199447.4:c.583G>T	p.Glu195Ter	p.E195*	ENST00000199447	NM_016616.4	195	Gaa/Taa	0	1	1	UPI00000700CB	0	NA	ENST00000199447		ENSG00000086288	16473		27	0		HGNC	p.E140X		NME8		SNV			1				ENST00000444718	protein_coding	getma.org/?cm=var&var=hg19,7,37905181,G,T&fts=all		Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF45,Superfamily_domains:SSF54919		E/*		T	NA	955/2312		NA					YES	NME8,stop_gained,p.Glu195Ter,ENST00000199447,NM_016616.4;NME8,stop_gained,p.Glu195Ter,ENST00000440017,;NME8,stop_gained,p.Glu140Ter,ENST00000444718,;EPDR1,intron_variant,,ENST00000476620,;NME8,downstream_gene_variant,,ENST00000455500,;NME8,intron_variant,,ENST00000426106,;							HIGH	583/1767	E195*	TXND3_HUMAN			Transcript			.	ENSP00000199447		CCDS5452.1			1	
OR10G2	0	LGGM	GRCh37	14	22102179	22102179	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	6	12	.	.	ENST00000542433.1:c.820G>T	p.Asp274Tyr	p.D274Y	ENST00000542433	NM_001005466.1	274	Gat/Tat	0	1	1	UPI0000041E5C	0	NA	ENST00000542433		ENSG00000255582	8170		18	2.85		HGNC	p.D274Y		OR10G2		SNV							ENST00000542433	protein_coding	getma.org/?cm=var&var=hg19,14,22102179,C,A&fts=all		Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF88,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		D/Y		A	medium	918/1105		getma.org/?cm=msa&ty=f&p=O10G2_HUMAN&rb=144&re=286&var=D274Y	tolerated(0.05)				YES	OR10G2,missense_variant,p.Asp274Tyr,ENST00000542433,NM_001005466.1;							MODERATE	820/933	D274Y	O10G2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000445383		CCDS32047.1			1	
ARHGAP31	0	LGGM	GRCh37	3	119134372	119134372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	22	12	.	.	ENST00000264245.4:c.3596C>T	p.Ala1199Val	p.A1199V	ENST00000264245	NM_020754.2	1199	gCg/gTg	0	1	1	UPI00001C1DFD	0	NA	ENST00000264245		ENSG00000031081	29216	0.000173	34	1.1		HGNC	p.A1199V	rs534166705	ARHGAP31	6.06E-05	SNV			1				ENST00000264245	protein_coding	getma.org/?cm=var&var=hg19,3,119134372,C,T&fts=all	T:0	hmmpanther:PTHR15729:SF3,hmmpanther:PTHR15729		A/V		T	low	4128/9317		getma.org/?cm=msa&ty=f&p=RHG31_HUMAN&rb=1167&re=1442&var=A1199V	deleterious(0)		T:0	T:0	YES	ARHGAP31,missense_variant,p.Ala1199Val,ENST00000264245,NM_020754.2;		T:0.0002					MODERATE	3596/4335	A1199V	RHG31_HUMAN		T:0	Transcript		probably_damaging(0.998)	.	ENSP00000264245	2.48E-05	CCDS43135.1		T:0.001	1	
SETD5	0	LGGM	GRCh37	3	9485073	9485073	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	13	12	.	.	ENST00000402198.1:c.1159A>T	p.Ile387Leu	p.I387L	ENST00000402198	NM_001080517.1	387	Ata/Tta	0	1	1	UPI0000411FEE	0	getma.org/pdb.php?prot=SETD5_HUMAN&from=285&to=390&var=I387L	ENST00000402198		ENSG00000168137	25566		25	1.32		HGNC	p.I387L		SETD5		SNV			1				ENST00000402198	protein_coding	getma.org/?cm=var&var=hg19,3,9485073,A,T&fts=all		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF11,SMART_domains:SM00317,Superfamily_domains:SSF82199		I/L		T	low	1594/6827		getma.org/?cm=msa&ty=f&p=SETD5_HUMAN&rb=285&re=390&var=I387L	deleterious(0)	C9JLM1_HUMAN,C9JLA7_HUMAN,A8K0G4_HUMAN			YES	SETD5,missense_variant,p.Ile289Leu,ENST00000402466,;SETD5,missense_variant,p.Ile387Leu,ENST00000402198,NM_001080517.1;SETD5,missense_variant,p.Ile387Leu,ENST00000406341,;SETD5,missense_variant,p.Ile406Leu,ENST00000407969,;SETD5,missense_variant,p.Ile289Leu,ENST00000302463,;SETD5,missense_variant,p.Ile55Leu,ENST00000399686,;SETD5,upstream_gene_variant,,ENST00000421188,;SETD5,downstream_gene_variant,,ENST00000442373,;SETD5,non_coding_transcript_exon_variant,,ENST00000497213,;SETD5,upstream_gene_variant,,ENST00000488236,;SETD5,downstream_gene_variant,,ENST00000490791,;SETD5,missense_variant,p.Ile54Leu,ENST00000413704,;SETD5,3_prime_UTR_variant,,ENST00000443339,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,non_coding_transcript_exon_variant,,ENST00000466242,;SETD5,downstream_gene_variant,,ENST00000431285,;SETD5,upstream_gene_variant,,ENST00000464410,;							MODERATE	1159/4329	I387L	SETD5_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000385852		CCDS46741.1			1	
APCDD1	0	LGGM	GRCh37	18	10487735	10487735	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	16	13	.	.	ENST00000355285.5:c.1245C>A	p.Ile415=	p.I415=	ENST00000355285	NM_153000.4	415	atC/atA	0	1	1	UPI000000D766	0		ENST00000355285		ENSG00000154856	15718		29			HGNC	p.I415I		APCDD1		SNV			1				ENST00000355285	protein_coding			hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921		I		A		1599/3809							YES	APCDD1,synonymous_variant,p.=,ENST00000355285,NM_153000.4;APCDD1,downstream_gene_variant,,ENST00000578882,;APCDD1,3_prime_UTR_variant,,ENST00000423585,;APCDD1,3_prime_UTR_variant,,ENST00000579685,;APCDD1,downstream_gene_variant,,ENST00000582723,;							LOW	1245/1545		APCD1_HUMAN			Transcript			.	ENSP00000347433		CCDS11849.1			1	
TMEM116	0	LGGM	GRCh37	12	112374610	112374610	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	27	13	.	.	ENST00000552374.2:c.474A>G	p.Pro158=	p.P158=	ENST00000552374		158	ccA/ccG	0	1		UPI000006230E	0		ENST00000550831		ENSG00000198270	25084		40			HGNC	p.P158P		TMEM116		SNV							ENST00000550037	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR23112,hmmpanther:PTHR23112:SF7,Superfamily_domains:SSF81321		P		C		567/1446				S4R388_HUMAN				TMEM116,synonymous_variant,p.=,ENST00000354825,;TMEM116,synonymous_variant,p.=,ENST00000437003,NM_001193531.1;TMEM116,synonymous_variant,p.=,ENST00000550831,NM_138341.2;TMEM116,synonymous_variant,p.=,ENST00000552374,;TMEM116,synonymous_variant,p.=,ENST00000355445,NM_001193453.1;TMEM116,synonymous_variant,p.=,ENST00000550800,;TMEM116,synonymous_variant,p.=,ENST00000550037,;TMEM116,intron_variant,,ENST00000549537,;TMEM116,3_prime_UTR_variant,,ENST00000547878,;TMEM116,non_coding_transcript_exon_variant,,ENST00000548283,;TMEM116,non_coding_transcript_exon_variant,,ENST00000552801,;TMEM116,downstream_gene_variant,,ENST00000551297,;TMEM116,downstream_gene_variant,,ENST00000546537,;TMEM116,downstream_gene_variant,,ENST00000550020,;							LOW	198/738		TM116_HUMAN			Transcript			.	ENSP00000450377		CCDS9157.1			1	
AP3M1	0	LGGM	GRCh37	10	75893789	75893789	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	27	14	.	.	ENST00000355264.4:c.579A>C	p.Lys193Asn	p.K193N	ENST00000355264	NM_012095.4	193	aaA/aaC	0	1	1	UPI00000012A0	0	getma.org/pdb.php?prot=AP3M1_HUMAN&from=165&to=418&var=K193N	ENST00000355264		ENSG00000185009	569		41	2.835		HGNC	p.K193N		AP3M1		SNV							ENST00000355264	protein_coding	getma.org/?cm=var&var=hg19,10,75893789,T,G&fts=all		PROSITE_profiles:PS51072,hmmpanther:PTHR11998:SF23,hmmpanther:PTHR11998,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852		K/N		G	medium	891/3613		getma.org/?cm=msa&ty=f&p=AP3M1_HUMAN&rb=165&re=418&var=K193N	deleterious(0.02)	Q8NDP0_HUMAN			YES	AP3M1,missense_variant,p.Lys193Asn,ENST00000355264,NM_012095.4;AP3M1,missense_variant,p.Lys193Asn,ENST00000372745,NM_207012.2;AP3M1,downstream_gene_variant,,ENST00000487653,;AP3M1,upstream_gene_variant,,ENST00000480373,;							MODERATE	579/1257	K193N	AP3M1_HUMAN			Transcript		possibly_damaging(0.673)	.	ENSP00000347408		CCDS7342.1			1	
SORD	0	LGGM	GRCh37	15	45360390	45360390	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	30	14	.	.	ENST00000267814.9:c.556A>C	p.Met186Leu	p.M186L	ENST00000267814	NM_003104.5	186	Atg/Ctg	0	1	1	UPI000013D771	0	getma.org/pdb.php?prot=DHSO_HUMAN&from=183&to=313&var=M186L	ENST00000267814		ENSG00000140263	11184		44	-2.54		HGNC	p.M165L		SORD		SNV							ENST00000558580	protein_coding	getma.org/?cm=var&var=hg19,15,45360390,A,C&fts=all		hmmpanther:PTHR11695:SF451,hmmpanther:PTHR11695,Pfam_domain:PF00107,Gene3D:3.40.50.720,SMART_domains:SM00829,Superfamily_domains:SSF51735		M/L		C	neutral	736/4909		getma.org/?cm=msa&ty=f&p=DHSO_HUMAN&rb=183&re=313&var=M186L	tolerated(1)				YES	SORD,missense_variant,p.Met186Leu,ENST00000267814,NM_003104.5;SORD,missense_variant,p.Met165Leu,ENST00000558580,;SORD,upstream_gene_variant,,ENST00000559562,;SORD,upstream_gene_variant,,ENST00000560488,;SORD,3_prime_UTR_variant,,ENST00000558789,;SORD,3_prime_UTR_variant,,ENST00000559230,;SORD,upstream_gene_variant,,ENST00000558574,;							MODERATE	556/1074	M186L	DHSO_HUMAN			Transcript		benign(0)	.	ENSP00000267814		CCDS10116.1			1	
DNAH9	0	LGGM	GRCh37	17	11520779	11520779	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	5	14	.	.	ENST00000262442.4:c.956A>C	p.His319Pro	p.H319P	ENST00000262442	NM_001372.3	319	cAc/cCc	0	1	1	UPI0000141BA2	0	NA	ENST00000262442		ENSG00000007174	2953		19	1.18		HGNC	p.H319P		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11520779,A,C&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08385		H/P		C	low	1024/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=210&re=791&var=H319P		Q92865_HUMAN			YES	DNAH9,missense_variant,p.His319Pro,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.His319Pro,ENST00000454412,;DNAH9,downstream_gene_variant,,ENST00000579828,;DNAH9,downstream_gene_variant,,ENST00000579602,;DNAH9,downstream_gene_variant,,ENST00000579813,;DNAH9,non_coding_transcript_exon_variant,,ENST00000579406,;DNAH9,non_coding_transcript_exon_variant,,ENST00000585197,;							MODERATE	956/13461	H319P	DYH9_HUMAN			Transcript		benign(0.012)	.	ENSP00000262442		CCDS11160.1			1	
SEMA4C	0	LGGM	GRCh37	2	97527513	97527513	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	16	15	.	.	ENST00000305476.5:c.1562T>C	p.Val521Ala	p.V521A	ENST00000305476	NM_017789.4	521	gTc/gCc	0	1	1	UPI00001A7981	0	getma.org/pdb.php?prot=SEM4C_HUMAN&from=499&to=589&var=V521A	ENST00000305476		ENSG00000168758	10731		31	0.695		HGNC	p.V521A		SEMA4C		SNV							ENST00000305476	protein_coding	getma.org/?cm=var&var=hg19,2,97527513,A,G&fts=all		hmmpanther:PTHR11036:SF16,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,Pfam_domain:PF01437,SMART_domains:SM00423,Superfamily_domains:SSF103575		V/A		G	neutral	1695/3545		getma.org/?cm=msa&ty=f&p=SEM4C_HUMAN&rb=499&re=589&var=V521A	tolerated(0.71)	Q8NBN9_HUMAN,Q6P5A5_HUMAN,Q53RE7_HUMAN,C9JV89_HUMAN,C9J4M7_HUMAN			YES	SEMA4C,missense_variant,p.Val521Ala,ENST00000305476,NM_017789.4;ANKRD39,upstream_gene_variant,,ENST00000393537,NM_016466.5;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;ANKRD23,upstream_gene_variant,,ENST00000462692,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000482925,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000467747,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000474420,;ANKRD39,upstream_gene_variant,,ENST00000443120,;							MODERATE	1562/2502	V521A	SEM4C_HUMAN			Transcript		benign(0.004)	.	ENSP00000306844		CCDS2029.1			1	
ZNF471	0	LGGM	GRCh37	19	57035715	57035715	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	38	15	.	.	ENST00000308031.5:c.279A>G	p.Thr93=	p.T93=	ENST00000308031	NM_020813.2	93	acA/acG	0	1	1	UPI0000073465	0		ENST00000308031		ENSG00000196263	23226		53			HGNC	p.T93T		ZNF471		SNV							ENST00000308031	protein_coding			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF212		T		G		412/6287				K7EPX1_HUMAN			YES	ZNF471,synonymous_variant,p.=,ENST00000308031,NM_020813.2;ZNF471,intron_variant,,ENST00000591537,;ZNF471,intron_variant,,ENST00000593197,;							LOW	279/1881		ZN471_HUMAN			Transcript			.	ENSP00000309161		CCDS12945.1			1	
SSR3	0	LGGM	GRCh37	3	156261049	156261049	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	21	15	.	.	ENST00000265044.2:c.501A>G	p.Ile167Met	p.I167M	ENST00000265044	NM_007107.3	167	atA/atG	0	1	1	UPI0000136005	0	NA	ENST00000265044		ENSG00000114850	11325		36	2.505		HGNC	p.I115M		SSR3		SNV							ENST00000463503	protein_coding	getma.org/?cm=var&var=hg19,3,156261049,T,C&fts=all		Pfam_domain:PF07074,hmmpanther:PTHR13399,hmmpanther:PTHR13399:SF2,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I/M		C	medium	596/3716		getma.org/?cm=msa&ty=f&p=SSRG_HUMAN&rb=12&re=183&var=I167M	deleterious(0.02)	C9J365_HUMAN			YES	SSR3,missense_variant,p.Ile167Met,ENST00000265044,NM_007107.3;SSR3,missense_variant,p.Ile180Met,ENST00000467789,;SSR3,missense_variant,p.Tyr172Cys,ENST00000476217,;SSR3,missense_variant,p.Ile115Met,ENST00000463503,;SSR3,missense_variant,p.Ile115Met,ENST00000496050,;KCNAB1,downstream_gene_variant,,ENST00000302490,NM_172159.3;KCNAB1,downstream_gene_variant,,ENST00000471742,NM_003471.3;KCNAB1,downstream_gene_variant,,ENST00000490337,NM_172160.2;SSR3,non_coding_transcript_exon_variant,,ENST00000478842,;SSR3,non_coding_transcript_exon_variant,,ENST00000464138,;SSR3,non_coding_transcript_exon_variant,,ENST00000498205,;SSR3,downstream_gene_variant,,ENST00000467733,;							MODERATE	501/558	I167M	SSRG_HUMAN			Transcript		benign(0.126)	.	ENSP00000265044		CCDS3176.1			1	
GPATCH1	0	LGGM	GRCh37	19	33585103	33585103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	16	15	.	.	ENST00000170564.2:c.481A>G	p.Arg161Gly	p.R161G	ENST00000170564	NM_018025.2	161	Aga/Gga	0	1	1	UPI000004EC71	0	NA	ENST00000170564		ENSG00000076650	24658		31	2.31		HGNC	p.R161G		GPATCH1		SNV							ENST00000170564	protein_coding	getma.org/?cm=var&var=hg19,19,33585103,A,G&fts=all		PROSITE_profiles:PS50174,hmmpanther:PTHR13384:SF19,hmmpanther:PTHR13384,Pfam_domain:PF01585		R/G		G	medium	795/3492		getma.org/?cm=msa&ty=f&p=GPTC1_HUMAN&rb=152&re=185&var=R161G	deleterious(0)				YES	GPATCH1,missense_variant,p.Arg161Gly,ENST00000170564,NM_018025.2;GPATCH1,intron_variant,,ENST00000592165,;							MODERATE	481/2796	R161G	GPTC1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000170564		CCDS12428.1			1	
LILRA6	0	LGGM	GRCh37	19	54746133	54746133	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	84	15	.	.	ENST00000396365.2:c.124G>T	p.Gly42Trp	p.G42W	ENST00000396365	NM_024318.2	42	Ggg/Tgg	0	1	1	UPI000022A9CA	0	getma.org/pdb.php?prot=LIRA6_HUMAN&from=28&to=117&var=G42W	ENST00000396365		ENSG00000244482	15495		99	3.185		HGNC	p.G42W		LILRA6		SNV							ENST00000440558	protein_coding	getma.org/?cm=var&var=hg19,19,54746133,C,A&fts=all		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		G/W		A	medium	164/1890		getma.org/?cm=msa&ty=f&p=LIRA6_HUMAN&rb=28&re=117&var=G42W	deleterious(0.03)				YES	LILRA6,missense_variant,p.Gly42Trp,ENST00000440558,;LILRB3,missense_variant,p.Gly42Trp,ENST00000407860,;LILRA6,missense_variant,p.Gly42Trp,ENST00000270464,;LILRA6,missense_variant,p.Gly42Trp,ENST00000419410,;LILRA6,missense_variant,p.Gly42Trp,ENST00000391735,;LILRA6,missense_variant,p.Gly42Trp,ENST00000396365,NM_024318.2;LILRA6,missense_variant,p.Gly42Trp,ENST00000245621,;LILRA6,missense_variant,p.Gly42Trp,ENST00000430421,;LILRA6,non_coding_transcript_exon_variant,,ENST00000474697,;RPS9,intron_variant,,ENST00000448962,;AC010492.4,downstream_gene_variant,,ENST00000506567,;							MODERATE	124/1446	G42W	LIRA6_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000379651		CCDS42610.1			1	
DNHD1	0	LGGM	GRCh37	11	6524065	6524065	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	42	18	.	.	ENST00000254579.6:c.829G>A	p.Asp277Asn	p.D277N	ENST00000254579	NM_144666.2	277	Gat/Aat	0	1	1	UPI0001929529	0	NA	ENST00000254579		ENSG00000179532	26532		60	-0.69		HGNC	p.D277N		DNHD1		SNV							ENST00000527990	protein_coding	getma.org/?cm=var&var=hg19,11,6524065,G,A&fts=all		hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676		D/N		A	neutral	1393/14862		getma.org/?cm=msa&ty=f&p=DNHD1_HUMAN&rb=201&re=400&var=D277N					YES	DNHD1,missense_variant,p.Asp277Asn,ENST00000254579,NM_144666.2;DNHD1,missense_variant,p.Asp277Asn,ENST00000527990,;DNHD1,missense_variant,p.Asp277Asn,ENST00000354685,NM_173589.3;DNHD1,downstream_gene_variant,,ENST00000496802,;DNHD1,downstream_gene_variant,,ENST00000477562,;TIMM10B,3_prime_UTR_variant,,ENST00000464330,;DNHD1,non_coding_transcript_exon_variant,,ENST00000473019,;TIMM10B,downstream_gene_variant,,ENST00000472836,;							MODERATE	829/14262	D277N	DNHD1_HUMAN			Transcript		benign(0)	.	ENSP00000254579		CCDS44532.1			1	
LYZL2	0	LGGM	GRCh37	10	30915778	30915778	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	50	19	.	.	ENST00000375318.2:c.205A>T	p.Thr69Ser	p.T69S	ENST00000375318	NM_183058.2	69	Act/Tct	0	1	1	UPI0000160E06	0	getma.org/pdb.php?prot=LYZL2_HUMAN&from=20&to=145&var=T23S	ENST00000375318		ENSG00000151033	29613		69	0.46		HGNC	p.T69S		LYZL2		SNV							ENST00000375318	protein_coding	getma.org/?cm=var&var=hg19,10,30915778,T,A&fts=all		Gene3D:1.10.530.10,Pfam_domain:PF00062,Prints_domain:PR00135,Prints_domain:PR00137,PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF26,SMART_domains:SM00263,Superfamily_domains:SSF53955		T/S		A	neutral	262/808		getma.org/?cm=msa&ty=f&p=LYZL2_HUMAN&rb=20&re=145&var=T23S	tolerated(0.84)				YES	LYZL2,missense_variant,p.Thr69Ser,ENST00000375318,NM_183058.2;							MODERATE	205/585	T23S	LYZL2_HUMAN			Transcript		benign(0.352)	.	ENSP00000364467		CCDS7167.2			1	
RHBDF1	0	LGGM	GRCh37	16	110273	110273	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	23	20	.	.	ENST00000262316.6:c.1663T>C	p.Cys555Arg	p.C555R	ENST00000262316	NM_022450.3	555	Tgt/Cgt	0	1	1	UPI00001A5206	0	NA	ENST00000262316		ENSG00000007384	20561		43	2.555		HGNC	p.C555R		RHBDF1		SNV							ENST00000262316	protein_coding	getma.org/?cm=var&var=hg19,16,110273,A,G&fts=all		hmmpanther:PTHR22936:SF6,hmmpanther:PTHR22936		C/R		G	medium	1806/2992		getma.org/?cm=msa&ty=f&p=RHDF1_HUMAN&rb=509&re=646&var=C555R	deleterious(0)	A2IDA2_HUMAN			YES	RHBDF1,missense_variant,p.Cys555Arg,ENST00000262316,NM_022450.3;SNRNP25,downstream_gene_variant,,ENST00000293861,;RHBDF1,downstream_gene_variant,,ENST00000454039,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000450643,;RHBDF1,downstream_gene_variant,,ENST00000419764,;SNRNP25,downstream_gene_variant,,ENST00000417493,;SNRNP25,downstream_gene_variant,,ENST00000493672,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;RHBDF1,non_coding_transcript_exon_variant,,ENST00000493647,;RHBDF1,downstream_gene_variant,,ENST00000487201,;SNRNP25,downstream_gene_variant,,ENST00000481947,;SNRNP25,downstream_gene_variant,,ENST00000466183,;RHBDF1,upstream_gene_variant,,ENST00000486045,;SNRNP25,downstream_gene_variant,,ENST00000397876,;RHBDF1,downstream_gene_variant,,ENST00000417043,;RHBDF1,downstream_gene_variant,,ENST00000472390,;RHBDF1,downstream_gene_variant,,ENST00000482904,;							MODERATE	1663/2568	C555R	RHDF1_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000262316		CCDS32344.1			1	
DPY19L3	0	LGGM	GRCh37	19	32959663	32959663	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	34	20	.	.	ENST00000342179.5:c.1641C>G	p.Leu547=	p.L547=	ENST00000342179	NM_207325.2	547	ctC/ctG	0	1	1	UPI00001C10BE	0		ENST00000342179		ENSG00000178904	27120		54			HGNC	p.L547L		DPY19L3		SNV							ENST00000392250	protein_coding			hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF4,Pfam_domain:PF10034		L		G		1856/6015				K7ELG1_HUMAN			YES	DPY19L3,synonymous_variant,p.=,ENST00000342179,NM_207325.2;DPY19L3,synonymous_variant,p.=,ENST00000392250,NM_001172774.1;DPY19L3,synonymous_variant,p.=,ENST00000586987,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000590651,;DPY19L3,3_prime_UTR_variant,,ENST00000588648,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000592142,;DPY19L3,intron_variant,,ENST00000592832,;							LOW	1641/2151		D19L3_HUMAN			Transcript			.	ENSP00000344937		CCDS12422.1			1	
DOCK2	0	LGGM	GRCh37	5	169141425	169141425	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	24	20	.	.	ENST00000256935.8:c.1905A>G	p.Glu635=	p.E635=	ENST00000256935	NM_004946.2	635	gaA/gaG	0	1	1	UPI00001A38CC	0		ENST00000256935		ENSG00000134516	2988		44			HGNC	p.E635E	rs774876608	DOCK2		SNV							ENST00000256935	protein_coding			hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317		E		G		1985/6097				Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,synonymous_variant,p.=,ENST00000256935,NM_004946.2;DOCK2,synonymous_variant,p.=,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,upstream_gene_variant,,ENST00000520836,;DOCK2,synonymous_variant,p.=,ENST00000524185,;							LOW	1905/5493		DOCK2_HUMAN	0.000151		Transcript			.	ENSP00000256935	8.24E-06	CCDS4371.1			1	
SNX14	0	LGGM	GRCh37	6	86243336	86243336	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	35	20	.	.	ENST00000314673.3:c.1791A>G	p.Glu597=	p.E597=	ENST00000314673	NM_153816.3	597	gaA/gaG	0	1	1	UPI000013F8C8	0		ENST00000314673		ENSG00000135317	14977		55			HGNC	p.E544E		SNX14		SNV			1				ENST00000346348	protein_coding			Superfamily_domains:SSF64268,SMART_domains:SM00312,Pfam_domain:PF00787,Gene3D:3.30.1520.10,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775,PROSITE_profiles:PS50195		E		C		1968/3486				E2QRM8_HUMAN			YES	SNX14,synonymous_variant,p.=,ENST00000314673,NM_153816.3;SNX14,synonymous_variant,p.=,ENST00000346348,NM_020468.3;SNX14,synonymous_variant,p.=,ENST00000515216,;SNX14,synonymous_variant,p.=,ENST00000505648,;SNX14,synonymous_variant,p.=,ENST00000369627,;SNX14,intron_variant,,ENST00000513865,;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,,ENST00000506182,;SNX14,non_coding_transcript_exon_variant,,ENST00000503608,;SNX14,downstream_gene_variant,,ENST00000514801,;							LOW	1791/2841		SNX14_HUMAN			Transcript			.	ENSP00000313121		CCDS5004.1			1	
TTLL4	0	LGGM	GRCh37	2	219616483	219616483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	28	21	.	.	ENST00000392102.1:c.2930A>G	p.Gln977Arg	p.Q977R	ENST00000392102	NM_014640.4	977	cAg/cGg	0	1		UPI000013EDFF	0	NA	ENST00000258398		ENSG00000135912	28976		49	1.79		HGNC	p.Q977R		TTLL4		SNV							ENST00000392102	protein_coding	getma.org/?cm=var&var=hg19,2,219616483,A,G&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF9		Q/R		G	low	3033/4730		getma.org/?cm=msa&ty=f&p=TTLL4_HUMAN&rb=947&re=1146&var=Q977R	deleterious(0.01)	C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN				TTLL4,missense_variant,p.Gln977Arg,ENST00000392102,NM_014640.4;TTLL4,missense_variant,p.Gln977Arg,ENST00000258398,;TTLL4,missense_variant,p.Gln913Arg,ENST00000442769,;TTLL4,missense_variant,p.Gln812Arg,ENST00000457313,;TTLL4,missense_variant,p.Gln122Arg,ENST00000436668,;TTLL4,missense_variant,p.Gln3Arg,ENST00000417855,;TTLL4,downstream_gene_variant,,ENST00000448224,;TTLL4,non_coding_transcript_exon_variant,,ENST00000465558,;TTLL4,downstream_gene_variant,,ENST00000480929,;TTLL4,downstream_gene_variant,,ENST00000467841,;TTLL4,downstream_gene_variant,,ENST00000494428,;TTLL4,downstream_gene_variant,,ENST00000417196,;TTLL4,downstream_gene_variant,,ENST00000480472,;TTLL4,downstream_gene_variant,,ENST00000491899,;TTLL4,downstream_gene_variant,,ENST00000475950,;TTLL4,upstream_gene_variant,,ENST00000472527,;TTLL4,downstream_gene_variant,,ENST00000434241,;							MODERATE	2930/3600	Q977R	TTLL4_HUMAN			Transcript		benign(0.028)	.	ENSP00000258398		CCDS2422.1			1	
RP1L1	0	LGGM	GRCh37	8	10469811	10469811	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	24	21	.	.	ENST00000382483.3:c.1797G>A	p.Glu599=	p.E599=	ENST00000382483	NM_178857.5	599	gaG/gaA	0	1	1	UPI00001AF9CC	0		ENST00000382483		ENSG00000183638	15946		45			HGNC	p.E599E	rs750623624,COSM1094511	RP1L1	6.06E-05	SNV			1			0,1	ENST00000382483	protein_coding			hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005		E		T		2021/7973				A6NKC6_HUMAN			YES	RP1L1,synonymous_variant,p.=,ENST00000382483,NM_178857.5;					0,1		LOW	1797/7203					Transcript			.	ENSP00000371923	8.27E-06	CCDS43708.1			1	
ANKRD30B	0	LGGM	GRCh37	18	14787069	14787069	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	49	22	.	.	ENST00000358984.4:c.1704G>A	p.Lys568=	p.K568=	ENST00000358984	NM_001145029.1	568	aaG/aaA	0	1	1	UPI0000425FF7	0		ENST00000358984		ENSG00000180777	24165		71			HGNC	p.K568K		ANKRD30B		SNV							ENST00000447268	protein_coding			hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20		K		A		1884/4359							YES	ANKRD30B,synonymous_variant,p.=,ENST00000358984,NM_001145029.1;ANKRD30B,synonymous_variant,p.=,ENST00000447268,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,synonymous_variant,p.=,ENST00000580206,;							LOW	1704/4179		AN30B_HUMAN			Transcript			.	ENSP00000351875		CCDS54182.1			1	
DLGAP3	0	LGGM	GRCh37	1	35370007	35370007	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	4	24	.	.	ENST00000373347.1:c.978G>A	p.Ser326=	p.S326=	ENST00000373347		326	tcG/tcA	0	1		UPI00003D4D81	0		ENST00000235180		ENSG00000116544	30368		28			HGNC	p.S326S	COSM908596	DLGAP3		SNV						1	ENST00000235180	protein_coding			hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4		S		T		978/3587				B4DH33_HUMAN				DLGAP3,synonymous_variant,p.=,ENST00000373347,;DLGAP3,synonymous_variant,p.=,ENST00000235180,NM_001080418.1;DLGAP3,downstream_gene_variant,,ENST00000495979,;					1		LOW	978/2940		DLGP3_HUMAN			Transcript			.	ENSP00000235180		CCDS30670.1			1	
HNRNPH2	0	LGGM	GRCh37	X	100667713	100667713	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	7	24	.	.	ENST00000316594.5:c.737A>G	p.Tyr246Cys	p.Y246C	ENST00000316594	NM_001199974.1	246	tAt/tGt	0	1	1	UPI0000134537	0	NA	ENST00000316594		ENSG00000126945	5042		31	1.745		HGNC	p.Y246C		HNRNPH2		SNV							ENST00000316594	protein_coding	getma.org/?cm=var&var=hg19,X,100667713,A,G&fts=all		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF33,Low_complexity_(Seg):seg		Y/C		G	low	815/2223		getma.org/?cm=msa&ty=f&p=HNRH2_HUMAN&rb=183&re=254&var=Y246C	deleterious(0.02)				YES	HNRNPH2,missense_variant,p.Tyr246Cys,ENST00000316594,NM_001199974.1,NM_001199973.1,NM_019597.4,NM_001032393.2;GLA,upstream_gene_variant,,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409338,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409170,;GLA,upstream_gene_variant,,ENST00000479445,;GLA,upstream_gene_variant,,ENST00000486121,;GLA,upstream_gene_variant,,ENST00000480513,;GLA,upstream_gene_variant,,ENST00000493905,;							MODERATE	737/1350	Y246C	HNRH2_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000361927		CCDS14485.1			1	
NIPA2	0	LGGM	GRCh37	15	23006290	23006290	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	33	25	.	.	ENST00000337451.3:c.1014A>G	p.Leu338=	p.L338=	ENST00000337451	NM_030922.6	338	ttA/ttG	0	1	1	UPI0000070013	0		ENST00000337451		ENSG00000140157	17044		58			HGNC	p.L319L		NIPA2		SNV							ENST00000359727	protein_coding			hmmpanther:PTHR12570:SF1,hmmpanther:PTHR12570		L		C		1627/3233				H0YMQ7_HUMAN			YES	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,;							LOW	1014/1083		NIPA2_HUMAN			Transcript			.	ENSP00000337618		CCDS10010.1			1	
CCNC	0	LGGM	GRCh37	6	100009296	100009296	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	40	26	.	.	ENST00000520429.1:c.241A>G	p.Ile81Val	p.I81V	ENST00000520429	NM_005190.3	81	Ata/Gta	0	1	1	UPI0000169CFB	0	getma.org/pdb.php?prot=CCNC_HUMAN&from=14&to=151&var=I81V	ENST00000520429		ENSG00000112237	1581		66	1.72		HGNC	p.I81V		CCNC		SNV							ENST00000484049	protein_coding	getma.org/?cm=var&var=hg19,6,100009296,T,C&fts=all		hmmpanther:PTHR10026,Pfam_domain:PF00134,Gene3D:1.10.472.10,SMART_domains:SM00385,PIRSF_domain:PIRSF028758,Superfamily_domains:SSF47954		I/V		C	low	687/2473		getma.org/?cm=msa&ty=f&p=CCNC_HUMAN&rb=14&re=151&var=I81V	tolerated(0.21)	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN			YES	CCNC,missense_variant,p.Ile81Val,ENST00000520429,NM_005190.3,NM_001013399.1;CCNC,missense_variant,p.Ile81Val,ENST00000520371,;CCNC,missense_variant,p.Ile81Val,ENST00000369220,;CCNC,missense_variant,p.Ile81Val,ENST00000482541,;CCNC,missense_variant,p.Ile81Val,ENST00000518714,;CCNC,missense_variant,p.Ile27Val,ENST00000486428,;CCNC,missense_variant,p.Ile128Val,ENST00000369217,;CCNC,5_prime_UTR_variant,,ENST00000523799,;CCNC,5_prime_UTR_variant,,ENST00000523985,;CCNC,5_prime_UTR_variant,,ENST00000524049,;CCNC,non_coding_transcript_exon_variant,,ENST00000521017,;CCNC,missense_variant,p.Ile81Val,ENST00000326298,;CCNC,missense_variant,p.Ile81Val,ENST00000484049,;CCNC,3_prime_UTR_variant,,ENST00000523961,;CCNC,non_coding_transcript_exon_variant,,ENST00000523639,;CCNC,non_coding_transcript_exon_variant,,ENST00000523310,;CCNC,downstream_gene_variant,,ENST00000523541,;							MODERATE	241/852	I81V	CCNC_HUMAN			Transcript		benign(0.013)	.	ENSP00000428982		CCDS34502.1			1	
HMGN1	0	LGGM	GRCh37	21	40720266	40720266	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	9	27	.	.	ENST00000380749.5:c.79-1G>T		p.X27_splice	ENST00000380749	NM_004965.6			0	1	1	UPI0000047514	0		ENST00000380749		ENSG00000205581	4984		36			HGNC	-		HMGN1		SNV							ENST00000380749	protein_coding							A		-/1383							YES	HMGN1,splice_acceptor_variant,,ENST00000380749,NM_004965.6;HMGN1,splice_acceptor_variant,,ENST00000380748,;HMGN1,splice_acceptor_variant,,ENST00000380747,;HMGN1,upstream_gene_variant,,ENST00000361263,;snoU13,upstream_gene_variant,,ENST00000459446,;Y_RNA,downstream_gene_variant,,ENST00000517106,;HMGN1,splice_acceptor_variant,,ENST00000489072,;HMGN1,splice_acceptor_variant,,ENST00000479586,;HMGN1,splice_acceptor_variant,,ENST00000482192,;HMGN1,splice_acceptor_variant,,ENST00000485550,;HMGN1,splice_acceptor_variant,,ENST00000471260,;HMGN1,splice_acceptor_variant,,ENST00000491183,;HMGN1,upstream_gene_variant,,ENST00000490032,;HMGN1,splice_acceptor_variant,,ENST00000486741,;HMGN1,splice_acceptor_variant,,ENST00000492280,;HMGN1,splice_acceptor_variant,,ENST00000431390,;HMGN1,splice_acceptor_variant,,ENST00000288344,;HMGN1,splice_acceptor_variant,,ENST00000436324,;HMGN1,splice_acceptor_variant,,ENST00000419378,;HMGN1,splice_acceptor_variant,,ENST00000443046,;HMGN1,splice_acceptor_variant,,ENST00000463631,;HMGN1,splice_acceptor_variant,,ENST00000464078,;HMGN1,non_coding_transcript_exon_variant,,ENST00000482733,;							HIGH	79/303		HMGN1_HUMAN			Transcript			.	ENSP00000370125		CCDS33559.1			1	
DIAPH1	0	LGGM	GRCh37	5	140908429	140908429	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	25	27	.	.	ENST00000398557.4:c.2858T>G	p.Ile953Ser	p.I953S	ENST00000398557	NM_005219.4	953	aTc/aGc	0	1		UPI0001E8F44E	0	getma.org/pdb.php?prot=DIAP1_HUMAN&from=769&to=1146&var=I953S	ENST00000389054		ENSG00000131504	2876		52	2.44		HGNC	p.I929S		DIAPH1		SNV			1				ENST00000398562	protein_coding	getma.org/?cm=var&var=hg19,5,140908429,A,C&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		I/S		C	medium	2990/5786		getma.org/?cm=msa&ty=f&p=DIAP1_HUMAN&rb=769&re=1146&var=I953S	deleterious(0)	Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E9PEZ3_HUMAN,E7ERW8_HUMAN,E5RJ79_HUMAN				DIAPH1,missense_variant,p.Ile954Ser,ENST00000253811,;DIAPH1,missense_variant,p.Ile953Ser,ENST00000398557,NM_005219.4;DIAPH1,missense_variant,p.Ile950Ser,ENST00000389054,;DIAPH1,missense_variant,p.Ile945Ser,ENST00000398566,;DIAPH1,missense_variant,p.Ile944Ser,ENST00000389057,NM_001079812.2;DIAPH1,missense_variant,p.Ile929Ser,ENST00000398562,;DIAPH1,missense_variant,p.Ile896Ser,ENST00000520569,;DIAPH1,missense_variant,p.Ile941Ser,ENST00000518047,;DIAPH1,upstream_gene_variant,,ENST00000448451,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000494967,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000491754,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000518484,;DIAPH1,upstream_gene_variant,,ENST00000468119,;DIAPH1,3_prime_UTR_variant,,ENST00000521457,;DIAPH1,upstream_gene_variant,,ENST00000476339,;							MODERATE	2849/3810	I953S				Transcript		unknown(0)	.	ENSP00000373706					1	
SETD2	0	LGGM	GRCh37	3	47161712	47161712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	40	27	.	.	ENST00000409792.3:c.4414T>C	p.Tyr1472His	p.Y1472H	ENST00000409792	NM_014159.6	1472	Tac/Cac	0	1	1	UPI00017E10FB	0	getma.org/pdb.php?prot=SETD2_HUMAN&from=1454&to=1560&var=Y1472H	ENST00000409792		ENSG00000181555	18420		67	0.975		HGNC	p.Y1472H		SETD2		SNV			1				ENST00000409792	protein_coding	getma.org/?cm=var&var=hg19,3,47161712,A,G&fts=all		Gene3D:2.170.270.10,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294,Superfamily_domains:SSF82199		Y/H		G	low	4457/8142		getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=1454&re=1560&var=Y1472H	deleterious(0.01)	C9JG86_HUMAN			YES	SETD2,missense_variant,p.Tyr1472His,ENST00000409792,NM_014159.6;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,missense_variant,p.Tyr1344His,ENST00000330022,;SETD2,missense_variant,p.Tyr1190His,ENST00000431180,;SETD2,missense_variant,p.Tyr1106His,ENST00000445387,;							MODERATE	4414/7695	Y1472H	SETD2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000386759		CCDS2749.2			1	
FSTL5	0	LGGM	GRCh37	4	162508648	162508648	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	7	28	.	.	ENST00000306100.5:c.974G>T	p.Gly325Val	p.G325V	ENST00000306100	NM_001128427.2	325	gGc/gTc	0	1	1	UPI000020B66B	0	NA	ENST00000306100		ENSG00000168843	21386		35	2.585		HGNC	p.G325V		FSTL5		SNV							ENST00000306100	protein_coding	getma.org/?cm=var&var=hg19,4,162508648,C,A&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR10913:SF44,hmmpanther:PTHR10913		G/V		A	medium	1411/4831		getma.org/?cm=msa&ty=f&p=FSTL5_HUMAN&rb=251&re=339&var=G325V	deleterious(0.01)	Q4W5Q0_HUMAN,Q4W5K3_HUMAN,Q4W5F8_HUMAN			YES	FSTL5,missense_variant,p.Gly325Val,ENST00000306100,NM_001128427.2,NM_020116.4;FSTL5,missense_variant,p.Gly324Val,ENST00000379164,;FSTL5,missense_variant,p.Gly324Val,ENST00000427802,NM_001128428.2;FSTL5,missense_variant,p.Gly324Val,ENST00000536695,;FSTL5,non_coding_transcript_exon_variant,,ENST00000511170,;							MODERATE	974/2544	G325V	FSTL5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305334		CCDS3802.1			1	
SIX3	0	LGGM	GRCh37	2	45169275	45169275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	64	29	.	.	ENST00000260653.3:c.32C>A	p.Ser11Tyr	p.S11Y	ENST00000260653	NM_005413.3	11	tCc/tAc	0	1	1	UPI00001359C4	0	NA	ENST00000260653		ENSG00000138083	10889		93	1.39		HGNC	p.S11Y		SIX3		SNV			1				ENST00000260653	protein_coding	getma.org/?cm=var&var=hg19,2,45169275,C,A&fts=all		hmmpanther:PTHR10390,hmmpanther:PTHR10390:SF31		S/Y		A	low	374/2658		getma.org/?cm=msa&ty=f&p=SIX3_HUMAN&rb=1&re=200&var=S11Y	deleterious_low_confidence(0.02)	Q9NSJ2_HUMAN,A0PJI2_HUMAN			YES	SIX3,missense_variant,p.Ser11Tyr,ENST00000260653,NM_005413.3;RP11-89K21.1,upstream_gene_variant,,ENST00000437916,;RP11-89K21.1,upstream_gene_variant,,ENST00000444871,;SIX3-AS1,upstream_gene_variant,,ENST00000419364,;SIX3-AS1,upstream_gene_variant,,ENST00000456467,;							MODERATE	32/999	S11Y	SIX3_HUMAN			Transcript		benign(0.001)	.	ENSP00000260653		CCDS1821.1			1	
WSB2	0	LGGM	GRCh37	12	118474282	118474282	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	34	32	.	.	ENST00000315436.3:c.694A>G	p.Ile232Val	p.I232V	ENST00000315436	NM_018639.4	232	Att/Gtt	0	1	1	UPI0000031565	0	getma.org/pdb.php?prot=WSB2_HUMAN&from=229&to=267&var=I232V	ENST00000315436		ENSG00000176871	19222		66	0.33		HGNC	p.I234V		WSB2		SNV							ENST00000537945	protein_coding	getma.org/?cm=var&var=hg19,12,118474282,T,C&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		I/V		C	neutral	836/2646		getma.org/?cm=msa&ty=f&p=WSB2_HUMAN&rb=229&re=267&var=I232V	tolerated(0.06)	B4DPV6_HUMAN,B4DFS1_HUMAN			YES	WSB2,missense_variant,p.Ile232Val,ENST00000315436,NM_018639.4;WSB2,missense_variant,p.Ile7Val,ENST00000542304,;WSB2,missense_variant,p.Ile249Val,ENST00000441406,NM_001278557.1;WSB2,missense_variant,p.Ile234Val,ENST00000535496,;WSB2,missense_variant,p.Ile22Val,ENST00000544233,NM_001278558.1;WSB2,missense_variant,p.Ile234Val,ENST00000537945,;RFC5,downstream_gene_variant,,ENST00000392542,NM_181578.3;RFC5,downstream_gene_variant,,ENST00000229043,NM_001130112.2;RFC5,downstream_gene_variant,,ENST00000454402,NM_007370.5,NM_001206801.1;WSB2,non_coding_transcript_exon_variant,,ENST00000536738,;RFC5,downstream_gene_variant,,ENST00000543153,;WSB2,missense_variant,p.Ile22Val,ENST00000543186,;WSB2,3_prime_UTR_variant,,ENST00000543218,;WSB2,non_coding_transcript_exon_variant,,ENST00000540129,;							MODERATE	694/1215	I232V	WSB2_HUMAN			Transcript		benign(0.334)	.	ENSP00000319474		CCDS9186.1			1	
VN1R1	0	LGGM	GRCh37	19	57966929	57966929	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	27	32	.	.	ENST00000321039.3:c.926A>G	p.Asn309Ser	p.N309S	ENST00000321039	NM_020633.3	309	aAc/aGc	0	1	1	UPI0000039957	0	NA	ENST00000321039		ENSG00000178201	13548		59	-0.52		HGNC	p.N309S		VN1R1		SNV							ENST00000321039	protein_coding	getma.org/?cm=var&var=hg19,19,57966929,T,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF43,Gene3D:1.20.1070.10,Pfam_domain:PF03402,Superfamily_domains:SSF81321		N/S		C	neutral	926/1313		getma.org/?cm=msa&ty=f&p=VN1R1_HUMAN&rb=73&re=338&var=N309S	tolerated(0.53)				YES	VN1R1,missense_variant,p.Asn309Ser,ENST00000321039,NM_020633.3;AC004076.9,intron_variant,,ENST00000596831,;AC004076.9,non_coding_transcript_exon_variant,,ENST00000415705,;AC004076.9,non_coding_transcript_exon_variant,,ENST00000601945,;VN1R107P,upstream_gene_variant,,ENST00000601784,;							MODERATE	926/1062	N309S	VN1R1_HUMAN			Transcript		benign(0.002)	.	ENSP00000322339		CCDS12951.1			1	
NINL	0	LGGM	GRCh37	20	25443174	25443174	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	21	33	.	.	ENST00000278886.6:c.3427C>T	p.Gln1143Ter	p.Q1143*	ENST00000278886	NM_025176.4	1143	Cag/Tag	0	1	1	UPI0000206B64	0	NA	ENST00000278886		ENSG00000101004	29163		54	0		HGNC	p.Q794X		NINL		SNV							ENST00000422516	protein_coding	getma.org/?cm=var&var=hg19,20,25443174,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12		Q/*		A	NA	3501/4969		NA					YES	NINL,stop_gained,p.Gln1143Ter,ENST00000278886,NM_025176.4;NINL,stop_gained,p.Gln794Ter,ENST00000422516,;NINL,stop_gained,p.Gln96Ter,ENST00000336104,;NINL,non_coding_transcript_exon_variant,,ENST00000496509,;NINL,upstream_gene_variant,,ENST00000464285,;							HIGH	3427/4149	Q1143*	NINL_HUMAN			Transcript			.	ENSP00000278886		CCDS33452.1			1	
FCN1	0	LGGM	GRCh37	9	137808212	137808212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	36	37	.	.	ENST00000371806.3:c.199G>T	p.Gly67Cys	p.G67C	ENST00000371806	NM_002003.3	67	Ggt/Tgt	0	1	1	UPI000012A5A7	0	getma.org/pdb.php?prot=FCN1_HUMAN&from=50&to=110&var=G67C	ENST00000371806		ENSG00000085265	3623		73	3.925		HGNC	p.G67C		FCN1		SNV							ENST00000371806	protein_coding	getma.org/?cm=var&var=hg19,9,137808212,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF165		G/C		A	high	291/1286		getma.org/?cm=msa&ty=f&p=FCN1_HUMAN&rb=50&re=110&var=G67C	deleterious(0)	Q92531_HUMAN			YES	FCN1,missense_variant,p.Gly67Cys,ENST00000371806,NM_002003.3;							MODERATE	199/981	G67C	FCN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360871		CCDS6985.1			1	
SHC1	0	LGGM	GRCh37	1	154940230	154940230	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	37	37	.	.	ENST00000448116.2:c.900C>T	p.Val300=	p.V300=	ENST00000448116	NM_001130040.1	300	gtC/gtT	0	1		UPI000013EE17	0		ENST00000368445		ENSG00000160691	10840		74			HGNC	p.V300V		SHC1		SNV							ENST00000448116	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF00640,Prints_domain:PR00629,PROSITE_profiles:PS01179,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF2,SMART_domains:SM00462,Superfamily_domains:SSF50729		V		A		1115/3472				Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN				SHC1,synonymous_variant,p.=,ENST00000448116,NM_001130040.1;SHC1,synonymous_variant,p.=,ENST00000368445,NM_183001.4;SHC1,synonymous_variant,p.=,ENST00000368453,NM_003029.4;SHC1,synonymous_variant,p.=,ENST00000368450,NM_001130041.1,NM_001202859.1;SHC1,synonymous_variant,p.=,ENST00000368449,;SHC1,synonymous_variant,p.=,ENST00000606391,;SHC1,synonymous_variant,p.=,ENST00000414115,;SHC1,synonymous_variant,p.=,ENST00000412170,;SHC1,synonymous_variant,p.=,ENST00000444179,;SHC1,upstream_gene_variant,,ENST00000444664,;SHC1,downstream_gene_variant,,ENST00000366442,;SHC1,upstream_gene_variant,,ENST00000490667,;PYGO2,upstream_gene_variant,,ENST00000483463,;							LOW	900/1752		SHC1_HUMAN			Transcript			.	ENSP00000357430		CCDS30881.1			1	
FCN1	0	LGGM	GRCh37	9	137808211	137808211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	36	37	.	.	ENST00000371806.3:c.200G>T	p.Gly67Val	p.G67V	ENST00000371806	NM_002003.3	67	gGt/gTt	0	1	1	UPI000012A5A7	0	getma.org/pdb.php?prot=FCN1_HUMAN&from=50&to=110&var=G67V	ENST00000371806		ENSG00000085265	3623		73	3.575		HGNC	p.G67V		FCN1		SNV							ENST00000371806	protein_coding	getma.org/?cm=var&var=hg19,9,137808211,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF165		G/V		A	high	292/1286		getma.org/?cm=msa&ty=f&p=FCN1_HUMAN&rb=50&re=110&var=G67V	deleterious(0)	Q92531_HUMAN			YES	FCN1,missense_variant,p.Gly67Val,ENST00000371806,NM_002003.3;							MODERATE	200/981	G67V	FCN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000360871		CCDS6985.1			1	
TTN	0	LGGM	GRCh37	2	179505286	179505286	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	58	38	.	.	ENST00000589042.1:c.40705A>G	p.Ile13569Val	p.I13569V	ENST00000589042	NM_001267550.1	13569	Att/Gtt	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		96	0.145		HGNC	p.I4629V		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179505286,T,C&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		I/V		C	neutral	36007/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=11926&re=12042&var=I11928V		C9JQJ2_HUMAN				TTN,missense_variant,p.Ile13569Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile11928Val,ENST00000591111,;TTN,missense_variant,p.Ile11001Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile4696Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile4629Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile4504Val,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Ile890Val,ENST00000414766,;TTN,missense_variant,p.Ile356Val,ENST00000446966,;TTN,missense_variant,p.Ile224Val,ENST00000426232,;RP11-171I2.3,upstream_gene_variant,,ENST00000605021,;TTN-AS1,intron_variant,,ENST00000589487,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000431752,;TTN-AS1,intron_variant,,ENST00000418062,;TTN-AS1,intron_variant,,ENST00000589830,;							MODERATE	35782/103053	I11928V	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CYP27A1	0	LGGM	GRCh37	2	219677069	219677069	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080174	H080174N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	41	41	.	.	ENST00000258415.4:c.571C>G	p.Gln191Glu	p.Q191E	ENST00000258415	NM_000784.3	191	Cag/Gag	0	1	1	UPI00001281BD	0	getma.org/pdb.php?prot=CP27A_HUMAN&from=61&to=526&var=Q191E	ENST00000258415		ENSG00000135929	2605		82	0.72		HGNC	p.Q191E		CYP27A1		SNV			1				ENST00000258415	protein_coding	getma.org/?cm=var&var=hg19,2,219677069,C,G&fts=all		hmmpanther:PTHR24291:SF6,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		Q/E		G	neutral	998/2286		getma.org/?cm=msa&ty=f&p=CP27A_HUMAN&rb=61&re=526&var=Q191E	tolerated(0.35)	C9J1K5_HUMAN			YES	CYP27A1,missense_variant,p.Gln191Glu,ENST00000258415,NM_000784.3;CYP27A1,missense_variant,p.Gln97Glu,ENST00000411688,;CYP27A1,3_prime_UTR_variant,,ENST00000445971,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000494263,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000466602,;							MODERATE	571/1596	Q191E	CP27A_HUMAN			Transcript		benign(0.006)	.	ENSP00000258415		CCDS2423.1			1	
ZNF786	0	LGGM	GRCh37	7	148777779	148777779	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	87	48	.	.	ENST00000491431.1:c.49T>G	p.Tyr17Asp	p.Y17D	ENST00000491431	NM_152411.3	17	Tat/Gat	0	1	1	UPI000013FD40	0	getma.org/pdb.php?prot=ZN786_HUMAN&from=9&to=49&var=Y17D	ENST00000491431		ENSG00000197362	21806		135	0.515		HGNC	p.Y17D		ZNF786		SNV							ENST00000491431	protein_coding	getma.org/?cm=var&var=hg19,7,148777779,A,C&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Y/D		C	neutral	114/2874		getma.org/?cm=msa&ty=f&p=ZN786_HUMAN&rb=9&re=49&var=Y17D	deleterious(0)	H7BXP3_HUMAN,B4DMI1_HUMAN			YES	ZNF786,missense_variant,p.Tyr17Asp,ENST00000491431,NM_152411.3;ZNF786,5_prime_UTR_variant,,ENST00000451334,;ZNF786,intron_variant,,ENST00000316286,;							MODERATE	49/2349	Y17D	ZN786_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000417470		CCDS47738.1			1	
NPY5R	0	LGGM	GRCh37	4	164271685	164271685	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	14	56	.	.	ENST00000515560.1:c.260A>T	p.Asp87Val	p.D87V	ENST00000515560		87	gAt/gTt	0	1		UPI000000D9D7	0	getma.org/pdb.php?prot=NPY5R_HUMAN&from=58&to=425&var=D87V	ENST00000338566		ENSG00000164129	7958		70	3.675		HGNC	p.D87V	rs758297007	NPY5R		SNV							ENST00000506953	protein_coding	getma.org/?cm=var&var=hg19,4,164271685,A,T&fts=all		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		D/V		T	high	442/1843	1.50E-05	getma.org/?cm=msa&ty=f&p=NPY5R_HUMAN&rb=58&re=425&var=D87V	deleterious(0)					NPY5R,missense_variant,p.Asp87Val,ENST00000515560,;NPY5R,missense_variant,p.Asp87Val,ENST00000338566,NM_006174.2;NPY5R,missense_variant,p.Asp87Val,ENST00000506953,;							MODERATE	260/1338	D87V	NPY5R_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339377	8.24E-06	CCDS3804.1			1	
CLCA2	0	LGGM	GRCh37	1	86916400	86916400	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	14	59	.	.	ENST00000370565.4:c.2139A>G	p.Pro713=	p.P713=	ENST00000370565	NM_006536.5	713	ccA/ccG	0	1	1	UPI0000035838	0		ENST00000370565		ENSG00000137975	2016		73			HGNC	p.P713P		CLCA2		SNV							ENST00000370565	protein_coding			hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF39,TIGRFAM_domain:TIGR00868		P		G		2301/4025							YES	CLCA2,synonymous_variant,p.=,ENST00000370565,NM_006536.5;CLCA2,non_coding_transcript_exon_variant,,ENST00000498802,;							LOW	2139/2832		CLCA2_HUMAN			Transcript			.	ENSP00000359596		CCDS708.1			1	
NTNG1	0	LGGM	GRCh37	1	107937909	107937909	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	17	74	.	.	ENST00000370068.1:c.1021G>T	p.Gly341Cys	p.G341C	ENST00000370068		341	Ggc/Tgc	0	1	1	UPI0000458A3E	0	getma.org/pdb.php?prot=NTNG1_HUMAN&from=297&to=343&var=G341C	ENST00000370068		ENSG00000162631	23319		91	3.4		HGNC	p.G341C		NTNG1		SNV			1				ENST00000370073	protein_coding	getma.org/?cm=var&var=hg19,1,107937909,G,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00180,Superfamily_domains:SSF57196		G/C		T	medium	1867/4034		getma.org/?cm=msa&ty=f&p=NTNG1_HUMAN&rb=297&re=343&var=G341C	deleterious(0)	Q5IEC8_HUMAN			YES	NTNG1,missense_variant,p.Gly341Cys,ENST00000370067,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370068,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Gly341Cys,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Gly341Cys,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Gly341Cys,ENST00000542803,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370061,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370072,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370070,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370065,;NTNG1,missense_variant,p.Gly341Cys,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;							MODERATE	1021/1620	G341C	NTNG1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000359085		CCDS44180.1			1	
MUC16	0	LGGM	GRCh37	19	9064985	9064985	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080174	H080174N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	27	84	.	.	ENST00000397910.4:c.22461T>G	p.Ser7487=	p.S7487=	ENST00000397910	NM_024690.2	7487	tcT/tcG	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		111			HGNC	p.S7487S		MUC16		SNV							ENST00000397910	protein_coding			Low_complexity_(Seg):seg		S		C		22665/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	22461/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
MUC17	0	LGGM	GRCh37	7	100685122	100685122	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080174	H080174N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	124	95	.	.	ENST00000306151.4:c.10425T>C	p.Ala3475=	p.A3475=	ENST00000306151	NM_001040105.1	3475	gcT/gcC	0	1	1	UPI0000D5BB56	0		ENST00000306151		ENSG00000169876	16800		219			HGNC	p.A3475A		MUC17		SNV							ENST00000379439	protein_coding					A		C		10489/14241				A1A4F7_HUMAN			YES	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;							LOW	10425/13482		MUC17_HUMAN			Transcript			.	ENSP00000302716		CCDS34711.1			1	
PCLO	0	LGGM	GRCh37	7	82545334	82545334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080174	H080174N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080174N.bam, H080174T.bam	Illumina HiSeq	191	98	.	.	ENST00000333891.9:c.11968C>T	p.Pro3990Ser	p.P3990S	ENST00000333891	NM_033026.5	3990	Cct/Tct	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		289	0.95		HGNC	p.P710S		PCLO		SNV			1				ENST00000437081	protein_coding	getma.org/?cm=var&var=hg19,7,82545334,G,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		P/S		A	low	12306/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=P3921S					YES	PCLO,missense_variant,p.Pro3990Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Pro3990Ser,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Pro710Ser,ENST00000437081,;							MODERATE	11968/15429	P3921S	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
PSTPIP1	0	LGGM	GRCh37	15	77310796	77310796	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	4	2	.	.	ENST00000558012.1:c.138-2A>C		p.X46_splice	ENST00000558012	NM_003978.3			0	1	1	UPI00000703D7	0		ENST00000558012		ENSG00000140368	9580		6			HGNC	-		PSTPIP1		SNV			1				ENST00000558407	protein_coding							C		-/1896							YES	PSTPIP1,splice_acceptor_variant,,ENST00000558012,NM_003978.3;PSTPIP1,splice_acceptor_variant,,ENST00000379595,;PSTPIP1,splice_acceptor_variant,,ENST00000267939,;PSTPIP1,splice_acceptor_variant,,ENST00000559295,;PSTPIP1,splice_acceptor_variant,,ENST00000559161,;PSTPIP1,splice_acceptor_variant,,ENST00000558407,;PSTPIP1,splice_acceptor_variant,,ENST00000559859,;PSTPIP1,upstream_gene_variant,,ENST00000559856,;PSTPIP1,splice_acceptor_variant,,ENST00000560621,;PSTPIP1,splice_acceptor_variant,,ENST00000560223,;PSTPIP1,splice_acceptor_variant,,ENST00000559785,;PSTPIP1,splice_acceptor_variant,,ENST00000559750,;PSTPIP1,splice_acceptor_variant,,ENST00000560377,;PSTPIP1,splice_acceptor_variant,,ENST00000559795,;PSTPIP1,splice_acceptor_variant,,ENST00000560796,;							HIGH	138/1251		PPIP1_HUMAN			Transcript			.	ENSP00000452746		CCDS45312.1			1	
H2AFY	0	LGGM	GRCh37	5	134705832	134705832	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	8	2	.	.	ENST00000511689.1:c.173C>G	p.Ala58Gly	p.A58G	ENST00000511689	NM_138610.2	58	gCg/gGg	0	1		UPI00000723ED	0	getma.org/pdb.php?prot=H2AY_HUMAN&from=15&to=88&var=A58G	ENST00000510038		ENSG00000113648	4740		10	4.35		HGNC	p.A58G		H2AFY		SNV							ENST00000304332	protein_coding	getma.org/?cm=var&var=hg19,5,134705832,G,C&fts=all		hmmpanther:PTHR23430:SF20,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,PIRSF_domain:PIRSF037942,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620		A/G		C	high	305/1314		getma.org/?cm=msa&ty=f&p=H2AY_HUMAN&rb=15&re=88&var=A58G	tolerated(0.06)					H2AFY,missense_variant,p.Ala58Gly,ENST00000511689,NM_138610.2,NM_001040158.1;H2AFY,missense_variant,p.Ala58Gly,ENST00000304332,NM_004893.2;H2AFY,missense_variant,p.Ala58Gly,ENST00000312469,NM_138609.2;H2AFY,missense_variant,p.Ala58Gly,ENST00000510038,;H2AFY,intron_variant,,ENST00000423969,;H2AFY,splice_region_variant,,ENST00000360597,;H2AFY,splice_region_variant,,ENST00000508785,;H2AFY,splice_region_variant,,ENST00000513210,;H2AFY,splice_region_variant,,ENST00000506532,;H2AFY,splice_region_variant,,ENST00000508120,;H2AFY,missense_variant,p.Ala58Gly,ENST00000506671,;H2AFY,splice_region_variant,,ENST00000507868,;H2AFY,splice_region_variant,,ENST00000506218,;H2AFY,non_coding_transcript_exon_variant,,ENST00000504197,;							MODERATE	173/1119	A58G	H2AY_HUMAN			Transcript		benign(0.282)	.	ENSP00000424971		CCDS4185.1			1	
MYL5	0	LGGM	GRCh37	4	674888	674888	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	4	2	.	.	ENST00000400159.2:c.379C>A	p.Arg127Ser	p.R127S	ENST00000400159	NM_002477.1	127	Cgt/Agt	0	1	1	UPI000012F210	0	getma.org/pdb.php?prot=MYL5_HUMAN&from=104&to=149&var=R127S	ENST00000400159		ENSG00000215375	7586		6	1.27		HGNC	p.R86S		MYL5		SNV							ENST00000511290	protein_coding	getma.org/?cm=var&var=hg19,4,674888,C,A&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23049,Gene3D:1.10.238.10,Pfam_domain:PF13405,SMART_domains:SM00054,Superfamily_domains:SSF47473		R/S		A	low	484/666		getma.org/?cm=msa&ty=f&p=MYL5_HUMAN&rb=104&re=149&var=R127S	deleterious(0)				YES	MYL5,missense_variant,p.Arg86Ser,ENST00000506838,;MYL5,missense_variant,p.Arg86Ser,ENST00000511290,;MYL5,missense_variant,p.Arg127Ser,ENST00000400159,NM_002477.1;MYL5,missense_variant,p.Arg86Ser,ENST00000505477,;MFSD7,downstream_gene_variant,,ENST00000322224,;MFSD7,downstream_gene_variant,,ENST00000404286,NM_032219.2;MFSD7,downstream_gene_variant,,ENST00000503156,;MFSD7,downstream_gene_variant,,ENST00000347950,;MFSD7,downstream_gene_variant,,ENST00000515118,;MFSD7,downstream_gene_variant,,ENST00000507165,;MYL5,downstream_gene_variant,,ENST00000507804,;MFSD7,downstream_gene_variant,,ENST00000512249,;MFSD7,downstream_gene_variant,,ENST00000513740,;MYL5,3_prime_UTR_variant,,ENST00000503300,;MYL5,3_prime_UTR_variant,,ENST00000513662,;MYL5,non_coding_transcript_exon_variant,,ENST00000503612,;MFSD7,downstream_gene_variant,,ENST00000512400,;MYL5,downstream_gene_variant,,ENST00000502720,;							MODERATE	379/522	R127S	MYL5_HUMAN			Transcript		benign(0.142)	.	ENSP00000383023		CCDS43197.1			1	
C3	0	LGGM	GRCh37	19	6710997	6710997	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	41	3	.	.	ENST00000245907.6:c.1479+1G>T		p.X493_splice	ENST00000245907	NM_000064.2			0	1	1	UPI000013EC9B	0		ENST00000245907		ENSG00000125730	1318		44			HGNC	-		C3		SNV			1				ENST00000245907	protein_coding							A		-/5263				Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	C3,splice_donor_variant,,ENST00000245907,NM_000064.2;C3,downstream_gene_variant,,ENST00000597442,;C3,downstream_gene_variant,,ENST00000594270,;C3,downstream_gene_variant,,ENST00000595577,;C3,upstream_gene_variant,,ENST00000600763,;							HIGH	1479/4992		CO3_HUMAN			Transcript			.	ENSP00000245907		CCDS32883.1			1	
TGM4	0	LGGM	GRCh37	3	44959478	44959478	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	40	3	.	.				ENST00000296125	NM_003241.3			0	1	1	UPI0000136CCD	0		ENST00000296125		ENSG00000163810	11780		43		2996	HGNC	p.R166L		TGM4		SNV							ENST00000339420	protein_coding							A		-/3388				Q9UBL5_HUMAN			YES	ZDHHC3,missense_variant,p.Arg166Leu,ENST00000339420,;TGM4,downstream_gene_variant,,ENST00000296125,NM_003241.3;ZDHHC3,downstream_gene_variant,,ENST00000443879,;ZDHHC3,non_coding_transcript_exon_variant,,ENST00000466084,;							MODIFIER	-/2055		TGM4_HUMAN			Transcript			.	ENSP00000296125		CCDS2723.1			1	
TST	0	LGGM	GRCh37	22	37414361	37414361	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	28	3	.	.	ENST00000403892.3:c.413G>A	p.Gly138Asp	p.G138D	ENST00000403892	NM_001270483.1	138	gGc/gAc	0	1		UPI0000167B82	0	getma.org/pdb.php?prot=THTR_HUMAN&from=25&to=143&var=G138D	ENST00000249042		ENSG00000128311	12388		31	2.385		HGNC	p.G138D		TST		SNV							ENST00000249042	protein_coding	getma.org/?cm=var&var=hg19,22,37414361,C,T&fts=all		Superfamily_domains:SSF52821,SMART_domains:SM00450,Gene3D:3.40.250.10,hmmpanther:PTHR11364:SF6,hmmpanther:PTHR11364,PROSITE_profiles:PS50206		G/D		T	medium	562/1211		getma.org/?cm=msa&ty=f&p=THTR_HUMAN&rb=25&re=143&var=G138D	deleterious(0)	B1AH48_HUMAN				TST,missense_variant,p.Gly138Asp,ENST00000403892,NM_001270483.1;TST,missense_variant,p.Gly138Asp,ENST00000249042,NM_003312.5;MPST,upstream_gene_variant,,ENST00000397225,;MPST,upstream_gene_variant,,ENST00000341116,;MPST,upstream_gene_variant,,ENST00000404802,NM_001130517.2;MPST,upstream_gene_variant,,ENST00000397129,;MPST,upstream_gene_variant,,ENST00000401419,NM_001013436.2;MPST,upstream_gene_variant,,ENST00000429360,NM_021126.5;MPST,upstream_gene_variant,,ENST00000404393,;TST,downstream_gene_variant,,ENST00000438203,;MPST,upstream_gene_variant,,ENST00000485587,;							MODERATE	413/894	G138D	THTR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000249042		CCDS13938.1			1	
FBLN5	0	LGGM	GRCh37	14	92343892	92343892	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	43	3	.	.	ENST00000342058.4:c.1124C>A	p.Pro375His	p.P375H	ENST00000342058	NM_006329.3	375	cCt/cAt	0	1	1	UPI0000001070	0	NA	ENST00000342058		ENSG00000140092	3602		46	2.42		HGNC	p.P416H		FBLN5		SNV			1				ENST00000267620	protein_coding	getma.org/?cm=var&var=hg19,14,92343892,G,T&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF1		P/H		T	medium	1718/2123		getma.org/?cm=msa&ty=f&p=FBLN5_HUMAN&rb=354&re=446&var=P375H	deleterious(0)	G3V3Y2_HUMAN			YES	FBLN5,missense_variant,p.Pro416His,ENST00000267620,;FBLN5,missense_variant,p.Pro375His,ENST00000342058,NM_006329.3;FBLN5,missense_variant,p.Pro380His,ENST00000556154,;FBLN5,missense_variant,p.Pro84His,ENST00000554121,;FBLN5,upstream_gene_variant,,ENST00000556961,;							MODERATE	1124/1347	P375H	FBLN5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000345008		CCDS9898.1			1	
CNOT1	0	LGGM	GRCh37	16	58568192	58568192	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	36	3	.	.	ENST00000317147.5:c.5754G>T	p.Gln1918His	p.Q1918H	ENST00000317147	NM_016284.4	1918	caG/caT	0	1	1	UPI00001FF2F6	0	NA	ENST00000317147		ENSG00000125107	7877		39	1.04		HGNC	p.Q1913H		CNOT1		SNV							ENST00000567188	protein_coding	getma.org/?cm=var&var=hg19,16,58568192,C,A&fts=all		hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162		Q/H		A	low	6087/8471		getma.org/?cm=msa&ty=f&p=CNOT1_HUMAN&rb=1736&re=1935&var=Q1918H	tolerated(0.12)	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN			YES	CNOT1,missense_variant,p.Gln1918His,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,missense_variant,p.Gln1913His,ENST00000569240,;CNOT1,missense_variant,p.Gln769His,ENST00000245138,;CNOT1,missense_variant,p.Gln298His,ENST00000568917,;CNOT1,missense_variant,p.Gln1913His,ENST00000567188,;CNOT1,upstream_gene_variant,,ENST00000563130,;CNOT1,downstream_gene_variant,,ENST00000563283,;CNOT1,upstream_gene_variant,,ENST00000570139,;							MODERATE	5754/7131	Q1918H	CNOT1_HUMAN			Transcript		benign(0.004)	.	ENSP00000320949		CCDS10799.1			1	
MYO1E	0	LGGM	GRCh37	15	59501008	59501008	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	45	3	.	.	ENST00000288235.4:c.1402G>T	p.Ala468Ser	p.A468S	ENST00000288235	NM_004998.3	468	Gcc/Tcc	0	1	1	UPI00001FE590	0	getma.org/pdb.php?prot=MYO1E_HUMAN&from=21&to=679&var=A468S	ENST00000288235		ENSG00000157483	7599		48	1.975		HGNC	p.A468S		MYO1E		SNV			1				ENST00000288235	protein_coding	getma.org/?cm=var&var=hg19,15,59501008,C,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341,SMART_domains:SM00242,Superfamily_domains:SSF52540		A/S		A	medium	1802/6193		getma.org/?cm=msa&ty=f&p=MYO1E_HUMAN&rb=21&re=679&var=A468S	tolerated(0.11)	Q4KMR3_HUMAN			YES	MYO1E,missense_variant,p.Ala468Ser,ENST00000288235,NM_004998.3;MYO1E,incomplete_terminal_codon_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000560642,;							MODERATE	1402/3327	A468S	MYO1E_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288235		CCDS32254.1			1	
KIF27	0	LGGM	GRCh37	9	86452184	86452184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	33	3	.	.	ENST00000297814.2:c.3938G>T	p.Ser1313Ile	p.S1313I	ENST00000297814	NM_017576.2	1313	aGt/aTt	0	1	1	UPI000018F32F	0	NA	ENST00000297814		ENSG00000165115	18632		36	0.975		HGNC	p.S1313I		KIF27		SNV							ENST00000297814	protein_coding	getma.org/?cm=var&var=hg19,9,86452184,C,A&fts=all				S/I		A	low	4082/4653		getma.org/?cm=msa&ty=f&p=KIF27_HUMAN&rb=1283&re=1401&var=S1313I	deleterious(0.02)	B4DMY5_HUMAN			YES	KIF27,missense_variant,p.Ser1313Ile,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Ser1247Ile,ENST00000413982,NM_001271927.1;KIF27,missense_variant,p.Ser1216Ile,ENST00000334204,NM_001271928.1;RP11-575L7.2,non_coding_transcript_exon_variant,,ENST00000412069,;RP11-575L7.4,intron_variant,,ENST00000591217,;RP11-575L7.2,intron_variant,,ENST00000417672,;RP11-575L7.2,intron_variant,,ENST00000458016,;RP11-575L7.2,intron_variant,,ENST00000439378,;							MODERATE	3938/4206	S1313I	KIF27_HUMAN			Transcript		benign(0.127)	.	ENSP00000297814		CCDS6665.1			1	
EHBP1	0	LGGM	GRCh37	2	63206338	63206338	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	43	3	.	.	ENST00000263991.5:c.2581C>A	p.Arg861=	p.R861=	ENST00000263991	NM_015252.3	861	Cga/Aga	0	1	1	UPI000013D49A	0		ENST00000263991		ENSG00000115504	29144		46			HGNC	p.R861R		EHBP1		SNV			1				ENST00000263991	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124		R		A		3063/5165				C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN			YES	EHBP1,synonymous_variant,p.=,ENST00000263991,NM_015252.3;EHBP1,synonymous_variant,p.=,ENST00000431489,NM_001142616.1;EHBP1,synonymous_variant,p.=,ENST00000354487,NM_001142614.1;EHBP1,synonymous_variant,p.=,ENST00000405015,NM_001142615.2;EHBP1,synonymous_variant,p.=,ENST00000405289,;EHBP1,synonymous_variant,p.=,ENST00000422032,;EHBP1,synonymous_variant,p.=,ENST00000444311,;EHBP1,synonymous_variant,p.=,ENST00000454124,;EHBP1,non_coding_transcript_exon_variant,,ENST00000496857,;EHBP1,upstream_gene_variant,,ENST00000491965,;							LOW	2581/3696		EHBP1_HUMAN			Transcript			.	ENSP00000263991		CCDS1872.1			1	
FEM1B	0	LGGM	GRCh37	15	68582178	68582178	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	23	3	.	.	ENST00000306917.4:c.482C>T	p.Ala161Val	p.A161V	ENST00000306917	NM_015322.4	161	gCg/gTg	0	1	1	UPI00000011FB	0	NA	ENST00000306917		ENSG00000169018	3649		26	3.235		HGNC	p.A3V		FEM1B		SNV							ENST00000566739	protein_coding	getma.org/?cm=var&var=hg19,15,68582178,C,T&fts=all		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24173,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		A/V		T	medium	1097/7122		getma.org/?cm=msa&ty=f&p=FEM1B_HUMAN&rb=153&re=185&var=A161V	deleterious(0)	H3BTV3_HUMAN			YES	FEM1B,missense_variant,p.Ala161Val,ENST00000306917,NM_015322.4;FEM1B,missense_variant,p.Ala3Val,ENST00000570067,;FEM1B,missense_variant,p.Ala3Val,ENST00000566739,;FEM1B,upstream_gene_variant,,ENST00000566008,;							MODERATE	482/1884	A161V	FEM1B_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000307298		CCDS10228.1			1	
SLC34A2	0	LGGM	GRCh37	4	25674852	25674852	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	32	3	.	.	ENST00000382051.3:c.1192G>T	p.Val398Phe	p.V398F	ENST00000382051	NM_006424.2	398	Gtc/Ttc	0	1	1	UPI000013DF24	0	NA	ENST00000382051		ENSG00000157765	11020		35	2.2		HGNC	p.V397F		SLC34A2		SNV			1				ENST00000504570	protein_coding	getma.org/?cm=var&var=hg19,4,25674852,G,T&fts=all		TIGRFAM_domain:TIGR01013,Pfam_domain:PF02690,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23		V/F		T	medium	1242/4122		getma.org/?cm=msa&ty=f&p=NPT2B_HUMAN&rb=379&re=519&var=V398F	deleterious(0)	D6RBC0_HUMAN			YES	SLC34A2,missense_variant,p.Val398Phe,ENST00000382051,NM_006424.2,NM_001177998.1;SLC34A2,missense_variant,p.Val397Phe,ENST00000503434,NM_001177999.1;SLC34A2,missense_variant,p.Val397Phe,ENST00000504570,;SLC34A2,downstream_gene_variant,,ENST00000510033,;							MODERATE	1192/2073	V398F	NPT2B_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000371483		CCDS3435.1			1	
MAP3K13	0	LGGM	GRCh37	3	185198156	185198156	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	45	3	.	.	ENST00000265026.3:c.2638C>A	p.Arg880Ser	p.R880S	ENST00000265026	NM_004721.4	880	Cgc/Agc	0	1	1	UPI000006CF91	0	NA	ENST00000265026		ENSG00000073803	6852		48	0.345		HGNC	p.R880S		MAP3K13		SNV							ENST00000424227	protein_coding	getma.org/?cm=var&var=hg19,3,185198156,C,A&fts=all		PIRSF_domain:PIRSF038165,PIRSF_domain:PIRSF500742		R/S		A	neutral	2972/9876		getma.org/?cm=msa&ty=f&p=M3K13_HUMAN&rb=471&re=965&var=R880S	tolerated_low_confidence(0.24)	C9JP65_HUMAN,C9J4W2_HUMAN			YES	MAP3K13,missense_variant,p.Arg880Ser,ENST00000265026,NM_004721.4;MAP3K13,missense_variant,p.Arg880Ser,ENST00000424227,NM_001242314.1;MAP3K13,missense_variant,p.Arg736Ser,ENST00000443863,;MAP3K13,missense_variant,p.Arg736Ser,ENST00000535426,;MAP3K13,missense_variant,p.Arg673Ser,ENST00000446828,NM_001242317.1;TMEM41A,non_coding_transcript_exon_variant,,ENST00000475480,;TMEM41A,downstream_gene_variant,,ENST00000484062,;MAP3K13,3_prime_UTR_variant,,ENST00000438053,;TMEM41A,intron_variant,,ENST00000382227,;							MODERATE	2638/2901	R880S	M3K13_HUMAN			Transcript		benign(0.002)	.	ENSP00000265026		CCDS3270.1			1	
LOXL3	0	LGGM	GRCh37	2	74764003	74764003	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	6	3	.	.	ENST00000264094.3:c.745G>T	p.Val249Leu	p.V249L	ENST00000264094	NM_032603.2	249	Gtg/Ttg	0	1	1	UPI0000044959	0	getma.org/pdb.php?prot=LOXL3_HUMAN&from=182&to=282&var=V249L	ENST00000264094		ENSG00000115318	13869		9	-0.135		HGNC	p.V249L		LOXL3		SNV							ENST00000413469	protein_coding	getma.org/?cm=var&var=hg19,2,74764003,C,A&fts=all		PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF11,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487		V/L		A	neutral	817/3502		getma.org/?cm=msa&ty=f&p=LOXL3_HUMAN&rb=182&re=282&var=V249L	tolerated(0.5)	Q8N505_HUMAN,Q53TY1_HUMAN,Q2EHP2_HUMAN,C9J5M1_HUMAN			YES	LOXL3,missense_variant,p.Val249Leu,ENST00000264094,NM_032603.2;LOXL3,missense_variant,p.Val249Leu,ENST00000409549,;LOXL3,missense_variant,p.Val249Leu,ENST00000409249,;LOXL3,missense_variant,p.Val249Leu,ENST00000413469,;LOXL3,intron_variant,,ENST00000393937,;LOXL3,intron_variant,,ENST00000409986,;LOXL3,intron_variant,,ENST00000420535,;HTRA2,downstream_gene_variant,,ENST00000258080,NM_013247.4;HTRA2,downstream_gene_variant,,ENST00000437202,;HTRA2,downstream_gene_variant,,ENST00000352222,NM_145074.2;LOXL3,intron_variant,,ENST00000481835,;HTRA2,downstream_gene_variant,,ENST00000467961,;HTRA2,downstream_gene_variant,,ENST00000462909,;LOXL3,downstream_gene_variant,,ENST00000484369,;HTRA2,downstream_gene_variant,,ENST00000484881,;LOXL3,intron_variant,,ENST00000470907,;HTRA2,downstream_gene_variant,,ENST00000484352,;HTRA2,downstream_gene_variant,,ENST00000482331,;							MODERATE	745/2262	V249L	LOXL3_HUMAN			Transcript		benign(0.002)	.	ENSP00000264094		CCDS1953.1			1	
CRTC2	0	LGGM	GRCh37	1	153930902	153930902	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	16	3	.	.	ENST00000368633.1:c.72G>A	p.Glu24=	p.E24=	ENST00000368633	NM_181715.2	24	gaG/gaA	0	1	1	UPI00001A9468	0		ENST00000368633		ENSG00000160741	27301		19			HGNC	p.E24E		CRTC2		SNV							ENST00000303569	protein_coding			hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589,Pfam_domain:PF12884		E		T		200/2644				Q8WZ18_HUMAN,Q8N332_HUMAN			YES	CRTC2,synonymous_variant,p.=,ENST00000368633,NM_181715.2;CRTC2,synonymous_variant,p.=,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,;SLC39A1,downstream_gene_variant,,ENST00000429040,;SLC39A1,downstream_gene_variant,,ENST00000413622,;SLC39A1,downstream_gene_variant,,ENST00000417348,;SLC39A1,downstream_gene_variant,,ENST00000461071,;CRTC2,upstream_gene_variant,,ENST00000476883,;CRTC2,upstream_gene_variant,,ENST00000492073,;CRTC2,synonymous_variant,p.=,ENST00000303569,;CRTC2,non_coding_transcript_exon_variant,,ENST00000487235,;CRTC2,upstream_gene_variant,,ENST00000461638,;							LOW	72/2082		CRTC2_HUMAN			Transcript			.	ENSP00000357622		CCDS30875.1			1	
ZSCAN1	0	LGGM	GRCh37	19	58565131	58565131	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	33	3	.	.	ENST00000282326.1:c.939C>A	p.Thr313=	p.T313=	ENST00000282326	NM_182572.3	313	acC/acA	0	1	1	UPI000013DCD2	0		ENST00000282326		ENSG00000152467	23712		36			HGNC	p.T313T		ZSCAN1		SNV							ENST00000282326	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187,SMART_domains:SM00355,Superfamily_domains:SSF57667		T		A		1186/2054							YES	ZSCAN1,synonymous_variant,p.=,ENST00000282326,NM_182572.3;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;							LOW	939/1227		ZSCA1_HUMAN			Transcript			.	ENSP00000282326		CCDS12969.1			1	
EDAR	0	LGGM	GRCh37	2	109524408	109524408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	40	3	.	.	ENST00000258443.2:c.871G>T	p.Ala291Ser	p.A291S	ENST00000258443	NM_022336.3	291	Gcc/Tcc	0	1	1	UPI0000129BC4	0	NA	ENST00000258443		ENSG00000135960	2895		43	1.78		HGNC	p.A291S	rs200267845	EDAR	0.000182	SNV			1				ENST00000258443	protein_coding	getma.org/?cm=var&var=hg19,2,109524408,C,A&fts=all	T:0	hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF9		A/S		A	low	1302/4214	1.52E-05	getma.org/?cm=msa&ty=f&p=EDAR_HUMAN&rb=201&re=358&var=A291S	tolerated(0.11)		T:0	T:0.001	YES	EDAR,missense_variant,p.Ala323Ser,ENST00000409271,;EDAR,missense_variant,p.Ala323Ser,ENST00000376651,;EDAR,missense_variant,p.Ala291Ser,ENST00000258443,NM_022336.3;		T:0.0002					MODERATE	871/1347	A291S	EDAR_HUMAN		T:0	Transcript		benign(0.297)	.	ENSP00000258443	3.29E-05	CCDS2081.1		T:0	1	
KRTAP3-2	0	LGGM	GRCh37	17	39156008	39156008	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	34	3	.	.	ENST00000391587.1:c.98C>A	p.Pro33His	p.P33H	ENST00000391587	NM_031959.2	33	cCc/cAc	0	1	1	UPI0000073566	0		ENST00000391587		ENSG00000212900	16779		37			HGNC	p.P33H		KRTAP3-2		SNV							ENST00000391587	protein_coding			hmmpanther:PTHR23260,Pfam_domain:PF04579		P/H		T		131/692			deleterious_low_confidence(0)				YES	KRTAP3-2,missense_variant,p.Pro33His,ENST00000391587,NM_031959.2;KRTAP3-4P,downstream_gene_variant,,ENST00000430780,;							MODERATE	98/297		KRA32_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000375429		CCDS32644.1			1	
IKBKAP	0	LGGM	GRCh37	9	111640427	111640427	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	21	3	.	.	ENST00000374647.5:c.3703G>T	p.Glu1235Ter	p.E1235*	ENST00000374647	NM_003640.3	1235	Gaa/Taa	0	1	1	UPI000013D2D0	0	NA	ENST00000374647		ENSG00000070061	5959		24	0		HGNC	p.E886X		IKBKAP		SNV			1				ENST00000537196	protein_coding	getma.org/?cm=var&var=hg19,9,111640427,C,A&fts=all		hmmpanther:PTHR12747,PIRSF_domain:PIRSF017233		E/*		A	NA	4011/5905		NA		Q4LE38_HUMAN,F5H2T0_HUMAN,B3KNB2_HUMAN,B3KMT0_HUMAN			YES	IKBKAP,stop_gained,p.Glu1235Ter,ENST00000374647,NM_003640.3;IKBKAP,stop_gained,p.Glu886Ter,ENST00000537196,;IKBKAP,downstream_gene_variant,,ENST00000467959,;IKBKAP,stop_gained,p.Glu282Ter,ENST00000495759,;							HIGH	3703/3999	E1235*	ELP1_HUMAN			Transcript			.	ENSP00000363779		CCDS6773.1			1	
MAPK12	0	LGGM	GRCh37	22	50694577	50694577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	38	3	.	.	ENST00000215659.8:c.556G>T	p.Val186Leu	p.V186L	ENST00000215659	NM_002969.3	186	Gtg/Ttg	0	1	1	UPI000012F180	0	getma.org/pdb.php?prot=MK12_HUMAN&from=27&to=311&var=V186L	ENST00000215659		ENSG00000188130	6874		41	1.705		HGNC	p.V186L		MAPK12		SNV							ENST00000215659	protein_coding	getma.org/?cm=var&var=hg19,22,50694577,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF146,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/L		A	low	872/1918		getma.org/?cm=msa&ty=f&p=MK12_HUMAN&rb=27&re=311&var=V186L	deleterious(0)				YES	MAPK12,missense_variant,p.Val186Leu,ENST00000215659,NM_002969.3;MAPK12,missense_variant,p.Val96Leu,ENST00000395780,;HDAC10,upstream_gene_variant,,ENST00000216271,NM_032019.5,NM_001159286.1;HDAC10,upstream_gene_variant,,ENST00000448072,;MAPK12,downstream_gene_variant,,ENST00000395778,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497036,;HDAC10,upstream_gene_variant,,ENST00000498366,;HDAC10,upstream_gene_variant,,ENST00000483222,;HDAC10,upstream_gene_variant,,ENST00000470965,;HDAC10,upstream_gene_variant,,ENST00000489424,;HDAC10,upstream_gene_variant,,ENST00000497483,;MAPK12,downstream_gene_variant,,ENST00000492218,;MAPK12,non_coding_transcript_exon_variant,,ENST00000496942,;MAPK12,non_coding_transcript_exon_variant,,ENST00000482969,;MAPK12,non_coding_transcript_exon_variant,,ENST00000497738,;MAPK12,non_coding_transcript_exon_variant,,ENST00000467891,;MAPK12,non_coding_transcript_exon_variant,,ENST00000488504,;HDAC10,upstream_gene_variant,,ENST00000415993,;							MODERATE	556/1104	V186L	MK12_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000215659		CCDS14089.1			1	
ARHGEF2	0	LGGM	GRCh37	1	155922420	155922420	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	31	3	.	.	ENST00000361247.4:c.1983G>T	p.Glu661Asp	p.E661D	ENST00000361247	NM_001162384.1	661	gaG/gaT	0	1	1	UPI000045892C	0	NA	ENST00000361247		ENSG00000116584	682		34	2.52		HGNC	p.E661D		ARHGEF2		SNV							ENST00000361247	protein_coding	getma.org/?cm=var&var=hg19,1,155922420,C,A&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14		E/D		A	medium	2083/4149		getma.org/?cm=msa&ty=f&p=ARHG2_HUMAN&rb=572&re=771&var=E661D	deleterious(0)				YES	ARHGEF2,missense_variant,p.Glu706Asp,ENST00000462460,;ARHGEF2,missense_variant,p.Glu633Asp,ENST00000368316,;ARHGEF2,missense_variant,p.Glu661Asp,ENST00000361247,NM_001162384.1,NM_001162383.1;ARHGEF2,missense_variant,p.Glu633Asp,ENST00000313695,NM_004723.3;ARHGEF2,missense_variant,p.Glu662Asp,ENST00000368315,;ARHGEF2,missense_variant,p.Glu660Asp,ENST00000313667,;ARHGEF2,upstream_gene_variant,,ENST00000470541,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000474428,;ARHGEF2,downstream_gene_variant,,ENST00000470975,;							MODERATE	1983/2961	E661D	ARHG2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000354837		CCDS53376.1			1	
BHMT2	0	LGGM	GRCh37	5	78379584	78379584	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	21	4	.	.	ENST00000255192.3:c.915G>T	p.Leu305=	p.L305=	ENST00000255192	NM_017614.4	305	ctG/ctT	0	1	1	UPI00000701B9	0		ENST00000255192		ENSG00000132840	1048		25			HGNC	p.L305L		BHMT2		SNV							ENST00000255192	protein_coding			Gene3D:3.20.20.330,Pfam_domain:PF02574,PIRSF_domain:PIRSF037505,PROSITE_profiles:PS50970,hmmpanther:PTHR21091,hmmpanther:PTHR21091:SF94,Superfamily_domains:SSF82282		L		T		981/2050				E5RH96_HUMAN			YES	BHMT2,synonymous_variant,p.=,ENST00000255192,NM_017614.4;BHMT2,synonymous_variant,p.=,ENST00000521567,NM_001178005.1;BHMT2,downstream_gene_variant,,ENST00000518666,;DMGDH,intron_variant,,ENST00000520388,;BHMT2,downstream_gene_variant,,ENST00000519743,;BHMT2,downstream_gene_variant,,ENST00000523046,;BHMT2,downstream_gene_variant,,ENST00000518758,;							LOW	915/1092		BHMT2_HUMAN			Transcript			.	ENSP00000255192		CCDS4045.1			1	
CHUK	0	LGGM	GRCh37	10	101978796	101978796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	78	4	.	.	ENST00000370397.7:c.658C>A	p.Pro220Thr	p.P220T	ENST00000370397	NM_001278.3	220	Cct/Act	0	1	1	UPI000013D6C7	0	getma.org/pdb.php?prot=IKKA_HUMAN&from=15&to=297&var=P220T	ENST00000370397		ENSG00000213341	1974		82	3.55		HGNC	p.P220T		CHUK		SNV			1				ENST00000370397	protein_coding	getma.org/?cm=var&var=hg19,10,101978796,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/T		T	high	745/3625		getma.org/?cm=msa&ty=f&p=IKKA_HUMAN&rb=15&re=297&var=P220T	deleterious(0)				YES	CHUK,missense_variant,p.Pro220Thr,ENST00000370397,NM_001278.3;							MODERATE	658/2238	P220T	IKKA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359424		CCDS7488.1			1	
IL12RB2	0	LGGM	GRCh37	1	67861526	67861526	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	65	4	.	.	ENST00000262345.1:c.2343C>G	p.Asn781Lys	p.N781K	ENST00000262345	NM_001559.2	781	aaC/aaG	0	1	1	UPI0000046B13	0	NA	ENST00000262345		ENSG00000081985	5972		69	1.265		HGNC	p.N781K		IL12RB2		SNV			1				ENST00000262345	protein_coding	getma.org/?cm=var&var=hg19,1,67861526,C,G&fts=all		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79		N/K		G	low	2983/4040		getma.org/?cm=msa&ty=f&p=I12R2_HUMAN&rb=610&re=809&var=N781K	tolerated(0.35)				YES	IL12RB2,missense_variant,p.Asn781Lys,ENST00000262345,NM_001559.2;IL12RB2,missense_variant,p.Asn695Lys,ENST00000544434,NM_001258215.1;IL12RB2,3_prime_UTR_variant,,ENST00000371000,NM_001258216.1,NM_001258214.1;IL12RB2,downstream_gene_variant,,ENST00000541374,;IL12RB2,downstream_gene_variant,,ENST00000465396,;							MODERATE	2343/2589	N781K	I12R2_HUMAN			Transcript		benign(0.005)	.	ENSP00000262345		CCDS638.1			1	
OR4X1	0	LGGM	GRCh37	11	48285524	48285524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	31	4	.	.	ENST00000320048.1:c.112C>A	p.Leu38Met	p.L38M	ENST00000320048	NM_001004726.1	38	Ctg/Atg	0	1	1	UPI0000041BDE	0	NA	ENST00000320048		ENSG00000176567	14854		35	1.145		HGNC	p.L38M		OR4X1		SNV							ENST00000320048	protein_coding	getma.org/?cm=var&var=hg19,11,48285524,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF271,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/M		A	low	112/918		getma.org/?cm=msa&ty=f&p=OR4X1_HUMAN&rb=1&re=136&var=L38M	tolerated(0.1)				YES	OR4X1,missense_variant,p.Leu38Met,ENST00000320048,NM_001004726.1;							MODERATE	112/918	L38M	OR4X1_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000321506		CCDS31487.1			1	
ARHGEF10L	0	LGGM	GRCh37	1	17961354	17961354	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	4	4	.	.	ENST00000361221.3:c.1770G>A	p.Leu590=	p.L590=	ENST00000361221	NM_018125.3	590	ctG/ctA	0	1	1	UPI00003664EA	0		ENST00000361221		ENSG00000074964	25540		8			HGNC	p.L363L		ARHGEF10L		SNV							ENST00000375408	protein_coding			Gene3D:2.30.29.30,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,Superfamily_domains:SSF50729		L		A		1929/4488							YES	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,synonymous_variant,p.=,ENST00000375420,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000475356,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000482359,;ARHGEF10L,upstream_gene_variant,,ENST00000466782,;							LOW	1770/3840		ARGAL_HUMAN			Transcript			.	ENSP00000355060		CCDS182.1			1	
CCDC91	0	LGGM	GRCh37	12	28459710	28459710	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	37	4	.	.	ENST00000545336.1:c.303A>T	p.Ser101=	p.S101=	ENST00000545336		101	tcA/tcT	0	1		UPI00001AEE23	0		ENST00000381259		ENSG00000123106	24855		41			HGNC	p.S101S		CCDC91		SNV							ENST00000381256	protein_coding					S		T		319/2334				F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN				CCDC91,synonymous_variant,p.=,ENST00000545336,;CCDC91,synonymous_variant,p.=,ENST00000539107,;CCDC91,synonymous_variant,p.=,ENST00000381259,NM_018318.3;CCDC91,synonymous_variant,p.=,ENST00000306172,;CCDC91,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000543809,;CCDC91,synonymous_variant,p.=,ENST00000545737,;CCDC91,synonymous_variant,p.=,ENST00000536442,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;							LOW	303/1326		CCD91_HUMAN			Transcript			.	ENSP00000370658		CCDS8716.1			1	
ACADVL	0	LGGM	GRCh37	17	7127167	7127167	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	18	4	.	.	ENST00000543245.2:c.1374A>T	p.Gln458His	p.Q458H	ENST00000543245	NM_001270447.1	458	caA/caT	0	1		UPI00001251EF	0	getma.org/pdb.php?prot=ACADV_HUMAN&from=327&to=476&var=Q435H	ENST00000356839		ENSG00000072778	92		22	4.5		HGNC	p.Q458H		ACADVL		SNV			1				ENST00000543245	protein_coding	getma.org/?cm=var&var=hg19,17,7127167,A,T&fts=all		Superfamily_domains:SSF47203,Pfam_domain:PF00441,Gene3D:1.20.140.10,PROSITE_patterns:PS00073,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF121		Q/H		T	high	1484/2323		getma.org/?cm=msa&ty=f&p=ACADV_HUMAN&rb=327&re=476&var=Q435H	deleterious(0)	B3KPA6_HUMAN				ACADVL,missense_variant,p.Gln435His,ENST00000356839,NM_001270448.1,NM_000018.3;ACADVL,missense_variant,p.Gln458His,ENST00000543245,NM_001270447.1;ACADVL,missense_variant,p.Gln413His,ENST00000350303,NM_001033859.2;ACADVL,missense_variant,p.Gln55His,ENST00000542255,;ACADVL,missense_variant,p.Gln48His,ENST00000579546,;DLG4,upstream_gene_variant,,ENST00000399510,NM_001365.3;DVL2,downstream_gene_variant,,ENST00000005340,NM_004422.2;DVL2,downstream_gene_variant,,ENST00000575458,;DVL2,downstream_gene_variant,,ENST00000575756,;DVL2,downstream_gene_variant,,ENST00000574143,;DVL2,downstream_gene_variant,,ENST00000575086,;ACADVL,downstream_gene_variant,,ENST00000583312,;ACADVL,downstream_gene_variant,,ENST00000584103,;ACADVL,downstream_gene_variant,,ENST00000579886,;MIR324,upstream_gene_variant,,ENST00000362183,;ACADVL,non_coding_transcript_exon_variant,,ENST00000583074,;ACADVL,downstream_gene_variant,,ENST00000581562,;ACADVL,downstream_gene_variant,,ENST00000577857,;ACADVL,missense_variant,p.Gln112His,ENST00000583858,;ACADVL,3_prime_UTR_variant,,ENST00000322910,;ACADVL,non_coding_transcript_exon_variant,,ENST00000578711,;ACADVL,non_coding_transcript_exon_variant,,ENST00000579425,;ACADVL,non_coding_transcript_exon_variant,,ENST00000585203,;ACADVL,non_coding_transcript_exon_variant,,ENST00000583850,;ACADVL,downstream_gene_variant,,ENST00000577191,;DVL2,downstream_gene_variant,,ENST00000576840,;ACADVL,downstream_gene_variant,,ENST00000579286,;ACADVL,downstream_gene_variant,,ENST00000582379,;ACADVL,downstream_gene_variant,,ENST00000577433,;ACADVL,downstream_gene_variant,,ENST00000581378,;ACADVL,downstream_gene_variant,,ENST00000582056,;ACADVL,downstream_gene_variant,,ENST00000578269,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,upstream_gene_variant,,ENST00000578319,;ACADVL,upstream_gene_variant,,ENST00000578809,;DVL2,downstream_gene_variant,,ENST00000576285,;ACADVL,downstream_gene_variant,,ENST00000582356,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000583760,;ACADVL,upstream_gene_variant,,ENST00000578033,;DVL2,downstream_gene_variant,,ENST00000571745,;ACADVL,downstream_gene_variant,,ENST00000582166,;ACADVL,downstream_gene_variant,,ENST00000578421,;ACADVL,downstream_gene_variant,,ENST00000580263,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,upstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000580365,;ACADVL,downstream_gene_variant,,ENST00000578579,;ACADVL,upstream_gene_variant,,ENST00000579894,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,upstream_gene_variant,,ENST00000579391,;ACADVL,upstream_gene_variant,,ENST00000582450,;							MODERATE	1305/1968	Q435H	ACADV_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349297		CCDS11090.1			1	
AKAP6	0	LGGM	GRCh37	14	33293703	33293703	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	35	4	.	.	ENST00000280979.4:c.6684G>A	p.Val2228=	p.V2228=	ENST00000280979	NM_004274.4	2228	gtG/gtA	0	1	1	UPI000013DC48	0		ENST00000280979		ENSG00000151320	376		39			HGNC	p.V2228V		AKAP6		SNV							ENST00000280979	protein_coding			hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		V		A		6854/8686				G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,synonymous_variant,p.=,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							LOW	6684/6960		AKAP6_HUMAN			Transcript			.	ENSP00000280979		CCDS9644.1			1	
CACHD1	0	LGGM	GRCh37	1	65099876	65099876	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	25	4	.	.	ENST00000290039.5:c.786C>T	p.His262=	p.H262=	ENST00000290039	NM_020925.2	262	caC/caT	0	1	1	UPI0000458A70	0		ENST00000290039		ENSG00000158966	29314		29			HGNC	p.H262H	rs374614547	CACHD1	6.06E-05	SNV	T:0						ENST00000290039	protein_coding			PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF28,Gene3D:3.40.50.410,Superfamily_domains:SSF53300		H	T:0.0001	T		892/5275	3.00E-05						YES	CACHD1,synonymous_variant,p.=,ENST00000371073,;CACHD1,synonymous_variant,p.=,ENST00000290039,NM_020925.2;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,;							LOW	786/3672					Transcript			.	ENSP00000290039	2.47E-05	CCDS628.2			1	
SPRR2G	0	LGGM	GRCh37	1	153122501	153122501	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	41	4	.	.	ENST00000368748.4:c.86C>T	p.Pro29Leu	p.P29L	ENST00000368748	NM_001014291.3	29	cCc/cTc	0	1	1	UPI000006DF1B	0		ENST00000368748		ENSG00000159516	11267		45			HGNC	p.P29L	COSM3474368	SPRR2G		SNV						1	ENST00000368748	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF35,hmmpanther:PTHR23263,Pfam_domain:PF14820		P/L		A		125/568							YES	SPRR2G,missense_variant,p.Pro29Leu,ENST00000368748,NM_001014291.3;					1		MODERATE	86/222		SPR2G_HUMAN			Transcript		unknown(0)	.	ENSP00000357737		CCDS30868.1			1	
RAC1	0	LGGM	GRCh37	7	6438331	6438331	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	30	4	.	.	ENST00000356142.4:c.264C>A	p.Gly88=	p.G88=	ENST00000356142	NM_018890.3	88	ggC/ggA	0	1		UPI000000060F	0		ENST00000348035		ENSG00000136238	9801		34			HGNC	p.G88G	rs771488957	RAC1		SNV				0.0001			ENST00000356142	protein_coding							A		-/2323				A4D2P2_HUMAN,A4D2P1_HUMAN				RAC1,synonymous_variant,p.=,ENST00000356142,NM_018890.3;RAC1,intron_variant,,ENST00000348035,NM_006908.4;RAC1,intron_variant,,ENST00000488373,;RAC1,intron_variant,,ENST00000497741,;RAC1,upstream_gene_variant,,ENST00000495499,;RAC1,upstream_gene_variant,,ENST00000473564,;							MODIFIER	-/579		RAC1_HUMAN			Transcript			.	ENSP00000258737	1.65E-05	CCDS5348.1			1	
ZFP30	0	LGGM	GRCh37	19	38135595	38135595	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	58	4	.	.	ENST00000351218.2:c.52G>T	p.Glu18Ter	p.E18*	ENST00000351218	NM_014898.2	18	Gaa/Taa	0	1	1	UPI0000139E7F	0	NA	ENST00000351218		ENSG00000120784	29555		62	0		HGNC	p.E18X		ZFP30		SNV							ENST00000514101	protein_coding	getma.org/?cm=var&var=hg19,19,38135595,C,A&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF246,SMART_domains:SM00349		E/*		A	NA	610/6090		NA		K7EK76_HUMAN,D3Y2A0_HUMAN			YES	ZFP30,stop_gained,p.Glu18Ter,ENST00000351218,NM_014898.2;ZFP30,stop_gained,p.Glu18Ter,ENST00000514101,;ZFP30,stop_gained,p.Glu18Ter,ENST00000392144,;ZFP30,stop_gained,p.Glu18Ter,ENST00000588979,;ZFP30,stop_gained,p.Glu18Ter,ENST00000587809,;ZFP30,stop_gained,p.Glu18Ter,ENST00000589018,;ZFP30,downstream_gene_variant,,ENST00000587199,;ZFP30,downstream_gene_variant,,ENST00000591444,;ZFP30,downstream_gene_variant,,ENST00000586732,;ZFP30,downstream_gene_variant,,ENST00000589676,;ZFP30,non_coding_transcript_exon_variant,,ENST00000477900,;							HIGH	52/1560	E18*	ZFP30_HUMAN			Transcript			.	ENSP00000343581		CCDS33005.1			1	
HYDIN	0	LGGM	GRCh37	16	70937967	70937967	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	22	4	.	.	ENST00000393567.2:c.8517G>T	p.Lys2839Asn	p.K2839N	ENST00000393567	NM_001270974.1	2839	aaG/aaT	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		26	2.175		HGNC	p.K2838N		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,70937967,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		K/N		A	medium	8668/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=K2839N		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Lys2839Asn,ENST00000393567,NM_001270974.1;HYDIN,splice_region_variant,,ENST00000309900,;							MODERATE	8517/15366	K2839N	HYDIN_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000377197		CCDS59269.1			1	
TMCC2	0	LGGM	GRCh37	1	205238503	205238503	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	25	5	.	.	ENST00000358024.3:c.1173G>C	p.Val391=	p.V391=	ENST00000358024	NM_014858.3	391	gtG/gtC	0	1	1	UPI00002056FC	0		ENST00000358024		ENSG00000133069	24239		30			HGNC	p.V313V		TMCC2		SNV							ENST00000545499	protein_coding			Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9		V		C		1562/3738							YES	TMCC2,synonymous_variant,p.=,ENST00000358024,NM_014858.3;TMCC2,synonymous_variant,p.=,ENST00000329800,;TMCC2,synonymous_variant,p.=,ENST00000330675,;TMCC2,synonymous_variant,p.=,ENST00000545499,NM_001242925.1;TMCC2,synonymous_variant,p.=,ENST00000367159,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,intron_variant,,ENST00000468846,;							LOW	1173/2130		TMCC2_HUMAN			Transcript			.	ENSP00000350718		CCDS30984.1			1	
COL11A1	0	LGGM	GRCh37	1	103471411	103471411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	88	5	.	.	ENST00000370096.3:c.1828G>T	p.Gly610Cys	p.G610C	ENST00000370096	NM_001854.3	610	Ggt/Tgt	0	1	1	UPI00002053EF	0	getma.org/pdb.php?prot=COBA1_HUMAN&from=583&to=643&var=G610C	ENST00000370096		ENSG00000060718	2186		93	4.105		HGNC	p.G610C		COL11A1		SNV			1				ENST00000370096	protein_coding	getma.org/?cm=var&var=hg19,1,103471411,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42		G/C		A	high	2141/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=583&re=643&var=G610C		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Gly622Cys,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly610Cys,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly571Cys,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly494Cys,ENST00000512756,NM_080630.3;COL11A1,downstream_gene_variant,,ENST00000427239,;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;							MODERATE	1828/5421	G610C	COBA1_HUMAN			Transcript		unknown(0)	.	ENSP00000359114		CCDS778.1			1	
CASZ1	0	LGGM	GRCh37	1	10713492	10713492	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	13	5	.	.	ENST00000377022.3:c.2622G>T	p.Ser874=	p.S874=	ENST00000377022	NM_001079843.2	874	tcG/tcT	0	1	1	UPI0000EBB7D6	0		ENST00000377022		ENSG00000130940	26002		18			HGNC	p.S874S		CASZ1		SNV							ENST00000377022	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12451		S		A		2940/7936							YES	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,;							LOW	2622/5280		CASZ1_HUMAN			Transcript			.	ENSP00000366221		CCDS41246.1			1	
MGA	0	LGGM	GRCh37	15	42059308	42059308	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	98	5	.	.	ENST00000219905.7:c.9028G>A	p.Val3010Met	p.V3010M	ENST00000219905	NM_001164273.1	3010	Gtg/Atg	0	1	1	UPI0001B2337E	0	NA	ENST00000219905		ENSG00000174197	14010		103	0.695		HGNC	p.V3010M	rs762610507	MGA		SNV							ENST00000570161	protein_coding	getma.org/?cm=var&var=hg19,15,42059308,G,A&fts=all				V/M		A	neutral	9209/12042	1.50E-05	getma.org/?cm=msa&ty=f&p=MGAP_HUMAN&rb=2540&re=3024&var=V2971M	deleterious(0.05)	H3BTF4_HUMAN,H3BP52_HUMAN			YES	MGA,missense_variant,p.Val3010Met,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Val2971Met,ENST00000389936,;MGA,missense_variant,p.Val3010Met,ENST00000570161,;MGA,missense_variant,p.Val2801Met,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Val2801Met,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,;							MODERATE	9028/9198	V2971M	MGAP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000219905	8.27E-06	CCDS55959.1			1	
TNFAIP6	0	LGGM	GRCh37	2	152235936	152235936	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	134	6	.	.	ENST00000243347.3:c.723A>T	p.Gln241His	p.Q241H	ENST00000243347	NM_007115.3	241	caA/caT	0	1	1	UPI0000071080	0	getma.org/pdb.php?prot=TSG6_HUMAN&from=135&to=244&var=Q241H	ENST00000243347		ENSG00000123610	11898		140	1.12		HGNC	p.Q241H		TNFAIP6		SNV							ENST00000243347	protein_coding	getma.org/?cm=var&var=hg19,2,152235936,A,T&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24038,SMART_domains:SM00042,Superfamily_domains:SSF49854		Q/H		T	low	798/1422		getma.org/?cm=msa&ty=f&p=TSG6_HUMAN&rb=135&re=244&var=Q241H	tolerated(0.22)				YES	TNFAIP6,missense_variant,p.Gln241His,ENST00000243347,NM_007115.3;							MODERATE	723/834	Q241H	TSG6_HUMAN			Transcript		benign(0.116)	.	ENSP00000243347		CCDS2193.1			1	
RASIP1	0	LGGM	GRCh37	19	49225167	49225167	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	24	6	.	.	ENST00000222145.4:c.2636G>A	p.Arg879His	p.R879H	ENST00000222145	NM_017805.2	879	cGc/cAc	0	1	1	UPI000020283D	0	NA	ENST00000222145		ENSG00000105538	24716		30	1.24		HGNC	p.R879H	rs369508351	RASIP1		SNV	T:0.0005			0.000315			ENST00000222145	protein_coding	getma.org/?cm=var&var=hg19,19,49225167,C,T&fts=all		PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF4		R/H	T:0	T	low	2841/3308		getma.org/?cm=msa&ty=f&p=RAIN_HUMAN&rb=770&re=879&var=R879H	deleterious(0.02)	Q9NX72_HUMAN,Q7L251_HUMAN,B3KVR5_HUMAN			YES	RASIP1,missense_variant,p.Arg879His,ENST00000222145,NM_017805.2;MAMSTR,upstream_gene_variant,,ENST00000318083,;MAMSTR,upstream_gene_variant,,ENST00000356751,NM_182574.2;MAMSTR,upstream_gene_variant,,ENST00000594582,;MAMSTR,upstream_gene_variant,,ENST00000419611,NM_001130915.1;MAMSTR,upstream_gene_variant,,ENST00000377367,;MAMSTR,upstream_gene_variant,,ENST00000599703,;RASIP1,downstream_gene_variant,,ENST00000599291,;RASIP1,non_coding_transcript_exon_variant,,ENST00000601530,;							MODERATE	2636/2892	R879H	RAIN_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000222145	2.47E-05	CCDS12731.1			1	
TRPV5	0	LGGM	GRCh37	7	142606657	142606657	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	26	6	.	.	ENST00000265310.1:c.1894C>T	p.Arg632Trp	p.R632W	ENST00000265310	NM_019841.4	632	Cgg/Tgg	0	1	1	UPI0000052B76	0	NA	ENST00000265310		ENSG00000127412	3145		32	2.585		HGNC	p.R632W		TRPV5		SNV							ENST00000265310	protein_coding	getma.org/?cm=var&var=hg19,7,142606657,G,A&fts=all		hmmpanther:PTHR10582:SF11,hmmpanther:PTHR10582,TIGRFAM_domain:TIGR00870,Prints_domain:PR01765		R/W		A	medium	2243/2952		getma.org/?cm=msa&ty=f&p=TRPV5_HUMAN&rb=579&re=729&var=R632W	deleterious(0.04)	Q9H480_HUMAN			YES	TRPV5,missense_variant,p.Arg632Trp,ENST00000265310,NM_019841.4;TRPV5,missense_variant,p.Arg577Trp,ENST00000439304,;							MODERATE	1894/2190	R632W	TRPV5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265310		CCDS5875.1			1	
KCNA6	0	LGGM	GRCh37	12	4919821	4919821	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	25	6	.	.	ENST00000433855.1:c.614G>A	p.Gly205Asp	p.G205D	ENST00000433855	NM_002235.3	205	gGt/gAt	0	1		UPI00001279AD	0	getma.org/pdb.php?prot=KCNA6_HUMAN&from=135&to=264&var=G205D	ENST00000280684		ENSG00000151079	6225		31	0.42		HGNC	p.G205D		KCNA6		SNV							ENST00000433855	protein_coding	getma.org/?cm=var&var=hg19,12,4919821,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Gene3D:1.20.120.350		G/D		A	neutral	1480/4237		getma.org/?cm=msa&ty=f&p=KCNA6_HUMAN&rb=135&re=264&var=G205D	tolerated(0.69)					KCNA6,missense_variant,p.Gly205Asp,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Gly205Asp,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;							MODERATE	614/1590	G205D	KCNA6_HUMAN			Transcript		benign(0.036)	.	ENSP00000280684		CCDS8534.1			1	
WDFY4	0	LGGM	GRCh37	10	49937498	49937498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	18	7	.	.	ENST00000325239.5:c.993C>A	p.Ser331Arg	p.S331R	ENST00000325239	NM_020945.1	331	agC/agA	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		25	1.355		HGNC	p.S331R		WDFY4		SNV							ENST00000360890	protein_coding	getma.org/?cm=var&var=hg19,10,49937498,C,A&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		S/R		A	low	1020/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=201&re=400&var=S331R	tolerated(0.48)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Ser331Arg,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Ser331Arg,ENST00000413659,;WDFY4,missense_variant,p.Ser331Arg,ENST00000360890,;							MODERATE	993/9555	S331R	WDFY4_HUMAN			Transcript		benign(0.02)	.	ENSP00000320563		CCDS44385.1			1	
IRS1	0	LGGM	GRCh37	2	227661351	227661351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	26	7	.	.	ENST00000305123.5:c.2104G>T	p.Gly702Trp	p.G702W	ENST00000305123	NM_005544.2	702	Ggg/Tgg	0	1	1	UPI000003BB52	0	NA	ENST00000305123		ENSG00000169047	6125		33	1.04		HGNC	p.G702W		IRS1		SNV			1				ENST00000305123	protein_coding	getma.org/?cm=var&var=hg19,2,227661351,C,A&fts=all		hmmpanther:PTHR10614:SF11,hmmpanther:PTHR10614		G/W		A	low	3125/9705		getma.org/?cm=msa&ty=f&p=IRS1_HUMAN&rb=663&re=862&var=G702W	deleterious(0)				YES	IRS1,missense_variant,p.Gly702Trp,ENST00000305123,NM_005544.2;RP11-395N3.2,upstream_gene_variant,,ENST00000607970,;IRS1,upstream_gene_variant,,ENST00000498335,;							MODERATE	2104/3729	G702W	IRS1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000304895		CCDS2463.1			1	
C19orf45	0	LGGM	GRCh37	19	7569280	7569280	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	23	7	.	.	ENST00000361664.2:c.765G>A	p.Gln255=	p.Q255=	ENST00000361664	NM_198534.2	255	caG/caA	0	1	1	UPI00001D83AB	0		ENST00000361664		ENSG00000198723	24745		30			HGNC	p.Q255Q		C19orf45		SNV							ENST00000361664	protein_coding			Pfam_domain:PF15373		Q		A		906/1679				M0R096_HUMAN,M0QYK1_HUMAN,M0QY34_HUMAN			YES	C19orf45,synonymous_variant,p.=,ENST00000361664,NM_198534.2;C19orf45,downstream_gene_variant,,ENST00000601176,;C19orf45,downstream_gene_variant,,ENST00000596132,;C19orf45,downstream_gene_variant,,ENST00000597207,;CTD-2207O23.12,upstream_gene_variant,,ENST00000599312,;C19orf45,intron_variant,,ENST00000596524,;C19orf45,upstream_gene_variant,,ENST00000600112,;CTD-2207O23.12,upstream_gene_variant,,ENST00000597384,;C19orf45,upstream_gene_variant,,ENST00000601292,;							LOW	765/1518		CS045_HUMAN			Transcript			.	ENSP00000355241		CCDS12179.2			1	
ARSK	0	LGGM	GRCh37	5	94901820	94901820	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	23	7	.	.	ENST00000380009.4:c.245C>T	p.Pro82Leu	p.P82L	ENST00000380009	NM_198150.2	82	cCa/cTa	0	1	1	UPI000004C65F	0	getma.org/pdb.php?prot=ARSK_HUMAN&from=32&to=451&var=P82L	ENST00000380009		ENSG00000164291	25239		30	3.135		HGNC	p.P82L		ARSK		SNV							ENST00000504873	protein_coding	getma.org/?cm=var&var=hg19,5,94901820,C,T&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF192,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649		P/L		T	medium	450/3354		getma.org/?cm=msa&ty=f&p=ARSK_HUMAN&rb=32&re=451&var=P82L	deleterious(0)				YES	ARSK,missense_variant,p.Pro82Leu,ENST00000380009,NM_198150.2;ARSK,missense_variant,p.Pro82Leu,ENST00000513814,;ARSK,missense_variant,p.Pro82Leu,ENST00000504873,;ARSK,missense_variant,p.Pro56Leu,ENST00000512106,;							MODERATE	245/1611	P82L	ARSK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369346		CCDS4073.1			1	
ARSK	0	LGGM	GRCh37	5	94901818	94901818	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	23	7	.	.	ENST00000380009.4:c.243C>T	p.Cys81=	p.C81=	ENST00000380009	NM_198150.2	81	tgC/tgT	0	1	1	UPI000004C65F	0		ENST00000380009		ENSG00000164291	25239		30			HGNC	p.C81C		ARSK		SNV							ENST00000504873	protein_coding			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF192,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649		C		T		448/3354							YES	ARSK,synonymous_variant,p.=,ENST00000380009,NM_198150.2;ARSK,synonymous_variant,p.=,ENST00000513814,;ARSK,synonymous_variant,p.=,ENST00000504873,;ARSK,synonymous_variant,p.=,ENST00000512106,;							LOW	243/1611		ARSK_HUMAN			Transcript			.	ENSP00000369346		CCDS4073.1			1	
DNAH11	0	LGGM	GRCh37	7	21641237	21641237	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	65	8	.	.	ENST00000328843.6:c.3648+1G>A		p.X1216_splice	ENST00000328843				0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		73			HGNC	-		DNAH11		SNV			1				ENST00000328843	protein_coding							A		-/14167				U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,splice_donor_variant,,ENST00000328843,;DNAH11,splice_donor_variant,,ENST00000409508,NM_001277115.1;							HIGH	3648/13551					Transcript			.	ENSP00000475939		CCDS64602.1			1	
CLASP2	0	LGGM	GRCh37	3	33644484	33644484	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	41	8	.	.	ENST00000468888.2:c.1887A>G	p.Leu629=	p.L629=	ENST00000468888		629	ttA/ttG	0	1	1	UPI0001B7944B	0		ENST00000468888		ENSG00000163539	17078		49			HGNC	p.L405L		CLASP2		SNV							ENST00000333778	protein_coding			hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567		L		C		1934/6978				Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN			YES	CLASP2,synonymous_variant,p.=,ENST00000399362,NM_015097.2;CLASP2,synonymous_variant,p.=,ENST00000307312,;CLASP2,synonymous_variant,p.=,ENST00000359576,;CLASP2,synonymous_variant,p.=,ENST00000468888,;CLASP2,synonymous_variant,p.=,ENST00000539981,;CLASP2,synonymous_variant,p.=,ENST00000480013,NM_001207044.1;CLASP2,synonymous_variant,p.=,ENST00000461133,;CLASP2,synonymous_variant,p.=,ENST00000333778,;CLASP2,synonymous_variant,p.=,ENST00000487200,;CLASP2,synonymous_variant,p.=,ENST00000313350,;							LOW	1887/4545					Transcript			.	ENSP00000419974					1	
PAQR8	0	LGGM	GRCh37	6	52268799	52268799	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	30	8	.	.	ENST00000442253.2:c.788C>A	p.Ser263Tyr	p.S263Y	ENST00000442253	NM_133367.4	263	tCc/tAc	0	1		UPI0000073877	0	NA	ENST00000360726		ENSG00000170915	15708		38	2.585		HGNC	p.S263Y		PAQR8		SNV							ENST00000360726	protein_coding	getma.org/?cm=var&var=hg19,6,52268799,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR20855:SF22,hmmpanther:PTHR20855,Pfam_domain:PF03006		S/Y		A	medium	965/4655		getma.org/?cm=msa&ty=f&p=MPRB_HUMAN&rb=70&re=297&var=S263Y	deleterious(0)	D6RCM7_HUMAN				PAQR8,missense_variant,p.Ser263Tyr,ENST00000442253,NM_133367.4;PAQR8,missense_variant,p.Ser263Tyr,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;							MODERATE	788/1065	S263Y	MPRB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000353953		CCDS4941.1			1	
DHX32	0	LGGM	GRCh37	10	127569375	127569375	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	74	8	.	.	ENST00000284690.3:c.19G>T	p.Glu7Ter	p.E7*	ENST00000284690	NM_018180.2	7	Gag/Tag	0	1	1	UPI00000467F4	0	NA	ENST00000284690		ENSG00000089876	16717		82	0		HGNC	p.E7X		DHX32		SNV							ENST00000284688	protein_coding	getma.org/?cm=var&var=hg19,10,127569375,C,A&fts=all		hmmpanther:PTHR18934:SF88,hmmpanther:PTHR18934		E/*		A	NA	510/3070		NA					YES	DHX32,stop_gained,p.Glu7Ter,ENST00000284690,NM_018180.2;DHX32,stop_gained,p.Glu7Ter,ENST00000284688,;DHX32,stop_gained,p.Glu7Ter,ENST00000415732,;							HIGH	19/2232	E7*	DHX32_HUMAN			Transcript			.	ENSP00000284690		CCDS7652.1			1	
GNA14	0	LGGM	GRCh37	9	80039042	80039042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	39	9	.	.	ENST00000341700.6:c.921G>T	p.Lys307Asn	p.K307N	ENST00000341700	NM_004297.3	307	aaG/aaT	0	1	1	UPI000004D20C	0	getma.org/pdb.php?prot=GNA14_HUMAN&from=5&to=355&var=K307N	ENST00000341700		ENSG00000156049	4382		48	1.075		HGNC	p.K307N		GNA14		SNV							ENST00000341700	protein_coding	getma.org/?cm=var&var=hg19,9,80039042,C,A&fts=all		hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF57,Pfam_domain:PF00503,Gene3D:3.40.50.300,SMART_domains:SM00275,Superfamily_domains:SSF52540,Prints_domain:PR00442		K/N		A	low	1435/2482		getma.org/?cm=msa&ty=f&p=GNA14_HUMAN&rb=5&re=355&var=K307N	tolerated(0.33)	B1ALW3_HUMAN			YES	GNA14,missense_variant,p.Lys307Asn,ENST00000341700,NM_004297.3;VPS13A,downstream_gene_variant,,ENST00000360280,NM_033305.2;GNA14,downstream_gene_variant,,ENST00000464095,;							MODERATE	921/1068	K307N	GNA14_HUMAN			Transcript		benign(0.008)	.	ENSP00000365807		CCDS6657.1			1	
RAB38	0	LGGM	GRCh37	11	87883123	87883123	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	200	9	.	.	ENST00000243662.6:c.203G>C	p.Gly68Ala	p.G68A	ENST00000243662	NM_022337.2	68	gGt/gCt	0	1	1	UPI000003F780	0	getma.org/pdb.php?prot=RAB38_HUMAN&from=11&to=179&var=G68A	ENST00000243662		ENSG00000123892	9776		209	4.1		HGNC	p.G68A		RAB38		SNV							ENST00000243662	protein_coding	getma.org/?cm=var&var=hg19,11,87883123,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF409,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		G/A		G	high	286/1465		getma.org/?cm=msa&ty=f&p=RAB38_HUMAN&rb=11&re=179&var=G68A	deleterious(0)				YES	RAB38,missense_variant,p.Gly68Ala,ENST00000243662,NM_022337.2;RAB38,missense_variant,p.Gly67Ala,ENST00000526372,;RAB38,intron_variant,,ENST00000531138,;							MODERATE	203/636	G68A	RAB38_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000243662		CCDS8281.1			1	
EXPH5	0	LGGM	GRCh37	11	108380923	108380923	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	60	9	.	.	ENST00000265843.4:c.5311G>T	p.Ala1771Ser	p.A1771S	ENST00000265843	NM_015065.2	1771	Gcc/Tcc	0	1	1	UPI000013D692	0	NA	ENST00000265843		ENSG00000110723	30578		69	1.06		HGNC	p.A1695S		EXPH5		SNV			1				ENST00000428840	protein_coding	getma.org/?cm=var&var=hg19,11,108380923,C,A&fts=all		hmmpanther:PTHR21469		A/S		A	low	5422/10187		getma.org/?cm=msa&ty=f&p=EXPH5_HUMAN&rb=1&re=1987&var=A1771S	tolerated(0.37)	F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN			YES	EXPH5,missense_variant,p.Ala1771Ser,ENST00000265843,NM_015065.2;EXPH5,missense_variant,p.Ala1695Ser,ENST00000428840,;EXPH5,missense_variant,p.Ala1583Ser,ENST00000443411,;EXPH5,missense_variant,p.Ala1764Ser,ENST00000525344,;EXPH5,missense_variant,p.Ala1695Ser,ENST00000526312,;EXPH5,downstream_gene_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000524840,;							MODERATE	5311/5970	A1771S	EXPH5_HUMAN			Transcript		benign(0.326)	.	ENSP00000265843		CCDS8341.1			1	
BOC	0	LGGM	GRCh37	3	113005700	113005700	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	31	10	.	.	ENST00000495514.1:c.3336C>T	p.Leu1112=	p.L1112=	ENST00000495514		1112	ctC/ctT	0	1		UPI0000072E0E	0		ENST00000355385		ENSG00000144857	17173		41			HGNC	p.L1112L		BOC		SNV							ENST00000355385	protein_coding					L		T		3675/4278				C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,synonymous_variant,p.=,ENST00000495514,;BOC,synonymous_variant,p.=,ENST00000355385,NM_033254.2;BOC,synonymous_variant,p.=,ENST00000273395,;BOC,3_prime_UTR_variant,,ENST00000473008,;WDR52,downstream_gene_variant,,ENST00000393845,NM_001164496.1;WDR52,downstream_gene_variant,,ENST00000465636,;WDR52,downstream_gene_variant,,ENST00000308346,;BOC,3_prime_UTR_variant,,ENST00000488486,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;WDR52,downstream_gene_variant,,ENST00000489244,;WDR52,downstream_gene_variant,,ENST00000461734,;WDR52,downstream_gene_variant,,ENST00000484923,;							LOW	3336/3345		BOC_HUMAN			Transcript			.	ENSP00000347546		CCDS2971.1			1	
MFI2	0	LGGM	GRCh37	3	196749887	196749887	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	25	10	.	.	ENST00000296350.5:c.585G>A	p.Gly195=	p.G195=	ENST00000296350	NM_005929.5	195	ggG/ggA	0	1	1	UPI000013E329	0		ENST00000296350		ENSG00000163975	7037		35			HGNC	p.G195G		MFI2		SNV							ENST00000296350	protein_coding			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		G		T		699/3963							YES	MFI2,synonymous_variant,p.=,ENST00000296350,NM_005929.5;MFI2,synonymous_variant,p.=,ENST00000296351,NM_033316.3;MFI2,downstream_gene_variant,,ENST00000439320,;MFI2,non_coding_transcript_exon_variant,,ENST00000489445,;MFI2,downstream_gene_variant,,ENST00000473501,;MFI2,downstream_gene_variant,,ENST00000491399,;							LOW	585/2217		TRFM_HUMAN			Transcript			.	ENSP00000296350		CCDS3325.1			1	
ZNHIT1	0	LGGM	GRCh37	7	100867119	100867119	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	31	10	.	.	ENST00000305105.2:c.439A>C	p.Thr147Pro	p.T147P	ENST00000305105	NM_006349.2	147	Acc/Ccc	0	1	1	UPI0000073C91	0	NA	ENST00000305105		ENSG00000106400	21688		41	3.07		HGNC	p.T147P		ZNHIT1		SNV							ENST00000305105	protein_coding	getma.org/?cm=var&var=hg19,7,100867119,A,C&fts=all		PROSITE_profiles:PS51083,hmmpanther:PTHR13093,Superfamily_domains:SSF144232		T/P		C	medium	967/1225		getma.org/?cm=msa&ty=f&p=ZNHI1_HUMAN&rb=113&re=154&var=T147P	deleterious(0)				YES	ZNHIT1,missense_variant,p.Thr147Pro,ENST00000305105,NM_006349.2;ZNHIT1,non_coding_transcript_exon_variant,,ENST00000492315,;ZNHIT1,downstream_gene_variant,,ENST00000461205,;ZNHIT1,non_coding_transcript_exon_variant,,ENST00000485387,;							MODERATE	439/465	T147P	ZNHI1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000304593		CCDS5716.1			1	
IQGAP1	0	LGGM	GRCh37	15	91009282	91009282	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	69	11	.	.	ENST00000268182.5:c.1826G>C	p.Gly609Ala	p.G609A	ENST00000268182	NM_003870.3	609	gGa/gCa	0	1	1	UPI000012D863	0	NA	ENST00000268182		ENSG00000140575	6110		80	0.385		HGNC	p.G609A		IQGAP1		SNV							ENST00000268182	protein_coding	getma.org/?cm=var&var=hg19,15,91009282,G,C&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15		G/A		C	neutral	1950/7233		getma.org/?cm=msa&ty=f&p=IQGA1_HUMAN&rb=560&re=745&var=G609A	tolerated(1)	H0YKA5_HUMAN			YES	IQGAP1,missense_variant,p.Gly609Ala,ENST00000268182,NM_003870.3;IQGAP1,missense_variant,p.Gly37Ala,ENST00000560738,;IQGAP1,upstream_gene_variant,,ENST00000560373,;							MODERATE	1826/4974	G609A	IQGA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000268182		CCDS10362.1			1	
ZBTB44	0	LGGM	GRCh37	11	130104159	130104159	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	46	11	.	.	ENST00000525842.1:c.1361A>G	p.Ter454TrpextTer5	p.*454Wext*5	ENST00000525842	NM_014155.4	454	tAg/tGg	0	1		UPI00001AED95	0		ENST00000357899		ENSG00000196323	25001		57			HGNC	p.X454W		ZBTB44		SNV							ENST00000525842	protein_coding			hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF10		L		C		1851/2781				H7BY22_HUMAN				ZBTB44,stop_lost,p.Ter454TrpextTer5,ENST00000525842,NM_014155.4;ZBTB44,synonymous_variant,p.=,ENST00000397753,;ZBTB44,synonymous_variant,p.=,ENST00000527478,;ZBTB44,synonymous_variant,p.=,ENST00000357899,;ZBTB44,intron_variant,,ENST00000529982,;ZBTB44,intron_variant,,ENST00000530205,;ZBTB44,downstream_gene_variant,,ENST00000528448,;ZBTB44,3_prime_UTR_variant,,ENST00000445008,;ZBTB44,downstream_gene_variant,,ENST00000529348,;ZBTB44,downstream_gene_variant,,ENST00000525623,;							LOW	1578/1713					Transcript			.	ENSP00000350574					1	
TMTC2	0	LGGM	GRCh37	12	83359489	83359489	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	56	11	.	.	ENST00000321196.3:c.1835T>C	p.Leu612Pro	p.L612P	ENST00000321196	NM_152588.1	612	cTa/cCa	0	1	1	UPI0000073F0F	0	getma.org/pdb.php?prot=TMTC2_HUMAN&from=557&to=636&var=L612P	ENST00000321196		ENSG00000179104	25440		67	3.4		HGNC	p.L606P		TMTC2		SNV							ENST00000549919	protein_coding	getma.org/?cm=var&var=hg19,12,83359489,T,C&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Gene3D:1.25.40.10,Pfam_domain:PF13424,SMART_domains:SM00028,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452		L/P		C	medium	2542/5681		getma.org/?cm=msa&ty=f&p=TMTC2_HUMAN&rb=557&re=636&var=L612P	deleterious(0)				YES	TMTC2,missense_variant,p.Leu606Pro,ENST00000549919,;TMTC2,missense_variant,p.Leu612Pro,ENST00000321196,NM_152588.1;TMTC2,missense_variant,p.Leu612Pro,ENST00000548305,;TMTC2,3_prime_UTR_variant,,ENST00000546590,;TMTC2,non_coding_transcript_exon_variant,,ENST00000551915,;							MODERATE	1835/2511	L612P	TMTC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000322300		CCDS9025.1			1	
SERINC5	0	LGGM	GRCh37	5	79473195	79473195	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	124	11	.	.	ENST00000512721.1:c.399G>T	p.Leu133=	p.L133=	ENST00000512721	NM_001174072.1	133	ctG/ctT	0	1		UPI000153D6B3	0		ENST00000509193		ENSG00000164300	18825		135			HGNC	p.L133L		SERINC5		SNV							ENST00000512972	protein_coding			Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF16,Transmembrane_helices:TMhelix		L		A		496/1573				D6RHG7_HUMAN				SERINC5,synonymous_variant,p.=,ENST00000507668,NM_178276.5,NM_001174071.1;SERINC5,synonymous_variant,p.=,ENST00000512972,;SERINC5,synonymous_variant,p.=,ENST00000512721,NM_001174072.1;SERINC5,synonymous_variant,p.=,ENST00000509193,;SERINC5,non_coding_transcript_exon_variant,,ENST00000513907,;							LOW	399/1371					Transcript			.	ENSP00000426134					1	
EEF1A1	0	LGGM	GRCh37	6	74227628	74227628	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	32	11	.	.	ENST00000316292.9:c.1294A>G	p.Thr432Ala	p.T432A	ENST00000316292	NM_001402.5	432	Aca/Gca	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=333&to=442&var=T432A	ENST00000309268		ENSG00000156508	3189		43	2.98		HGNC	p.T432A	COSM3745352	EEF1A1		SNV						1	ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74227628,T,C&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,Gene3D:2.40.30.10,Pfam_domain:PF03143,TIGRFAM_domain:TIGR00483,Superfamily_domains:SSF50465		T/A		C	medium	1913/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=333&re=442&var=T432A	deleterious_low_confidence(0)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,missense_variant,p.Thr432Ala,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Thr432Ala,ENST00000309268,;EEF1A1,missense_variant,p.Thr432Ala,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,;					1		MODERATE	1294/1389	T432A	EF1A1_HUMAN			Transcript		benign(0.004)	.	ENSP00000339053		CCDS4980.1			1	
TRIML2	0	LGGM	GRCh37	4	189022317	189022317	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	24	11	.	.	ENST00000512729.1:c.223C>A	p.Gln75Lys	p.Q75K	ENST00000512729	NM_173553.1	75	Cag/Aag	0	1	1	UPI000007300A	0	NA	ENST00000512729		ENSG00000179046	26378		35	0.695		HGNC	p.Q75K		TRIML2		SNV							ENST00000326754	protein_coding	getma.org/?cm=var&var=hg19,4,189022317,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103		Q/K		T	neutral	598/1639		getma.org/?cm=msa&ty=f&p=TRIMM_HUMAN&rb=1&re=200&var=Q75K	tolerated(1)				YES	TRIML2,missense_variant,p.Gln75Lys,ENST00000512729,NM_173553.1;TRIML2,missense_variant,p.Gln75Lys,ENST00000326754,;TRIML2,missense_variant,p.Gln125Lys,ENST00000536972,;TRIML2,downstream_gene_variant,,ENST00000502707,;TRIML2,downstream_gene_variant,,ENST00000394461,;TRIML2,missense_variant,p.Gln30Lys,ENST00000503141,;TRIML2,missense_variant,p.Gln30Lys,ENST00000503475,;TRIML2,non_coding_transcript_exon_variant,,ENST00000511771,;							MODERATE	223/1164	Q75K	TRIMM_HUMAN			Transcript		benign(0.008)	.	ENSP00000422581		CCDS3850.1			1	
PPIA	0	LGGM	GRCh37	7	44840889	44840889	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	58	11	.	.	ENST00000468812.1:c.366G>A	p.Leu122=	p.L122=	ENST00000468812	NM_021130.3	122	ttG/ttA	0	1	1	UPI000003AF82	0		ENST00000468812		ENSG00000196262	9253		69			HGNC	p.L122L		PPIA		SNV							ENST00000468812	protein_coding			PROSITE_profiles:PS50072,hmmpanther:PTHR11071:SF237,hmmpanther:PTHR11071,Pfam_domain:PF00160,Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,Superfamily_domains:SSF50891,Prints_domain:PR00153		L		A		411/2238				Q567Q0_HUMAN,F8WE65_HUMAN,C9J5S7_HUMAN			YES	PPIA,synonymous_variant,p.=,ENST00000468812,NM_021130.3;PPIA,synonymous_variant,p.=,ENST00000489459,;PPIA,synonymous_variant,p.=,ENST00000355968,;PPIA,downstream_gene_variant,,ENST00000451562,;PPIA,non_coding_transcript_exon_variant,,ENST00000480603,;PPIA,3_prime_UTR_variant,,ENST00000415933,;PPIA,non_coding_transcript_exon_variant,,ENST00000494484,;PPIA,intron_variant,,ENST00000479021,;PPIA,downstream_gene_variant,,ENST00000481437,;							LOW	366/498		PPIA_HUMAN			Transcript			.	ENSP00000419425		CCDS5494.1			1	
SPHK2	0	LGGM	GRCh37	19	49132008	49132008	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	23	11	.	.	ENST00000245222.4:c.943C>T	p.Pro315Ser	p.P315S	ENST00000245222	NM_001204158.2	315	Cca/Tca	0	1	1	UPI0000135E14	0	NA	ENST00000245222		ENSG00000063176	18859		34	1.93		HGNC	p.P315S		SPHK2		SNV							ENST00000598088	protein_coding	getma.org/?cm=var&var=hg19,19,49132008,C,T&fts=all		PROSITE_profiles:PS50146,hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF12,SMART_domains:SM00046,Superfamily_domains:SSF111331		P/S		T	medium	1309/2963		getma.org/?cm=msa&ty=f&p=SPHK2_HUMAN&rb=178&re=325&var=P315S	deleterious(0.05)	Q8N2M3_HUMAN,M0R0E9_HUMAN,M0QZP3_HUMAN,M0QXX5_HUMAN			YES	SPHK2,missense_variant,p.Pro377Ser,ENST00000443164,;SPHK2,missense_variant,p.Pro279Ser,ENST00000599029,;SPHK2,missense_variant,p.Pro315Ser,ENST00000245222,NM_001204158.2,NM_020126.4,NM_001243876.1;SPHK2,missense_variant,p.Pro315Ser,ENST00000598088,NM_001204159.2;SPHK2,missense_variant,p.Pro279Ser,ENST00000599748,NM_001204160.2;SPHK2,missense_variant,p.Pro256Ser,ENST00000600537,;SPHK2,intron_variant,,ENST00000340932,;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,,ENST00000600303,;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,;							MODERATE	943/1965	P315S	SPHK2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000245222		CCDS12727.1			1	
WDR81	0	LGGM	GRCh37	17	1628752	1628752	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	18	12	.	.	ENST00000409644.1:c.499G>A	p.Ala167Thr	p.A167T	ENST00000409644	NM_001163809.1	167	Gcc/Acc	0	1	1	UPI0001881A85	0		ENST00000409644		ENSG00000167716	26600		30			HGNC	p.A167T		WDR81		SNV			1				ENST00000409644	protein_coding					A/T		A		499/6733			tolerated(0.44)	E9PDG3_HUMAN,C9JD20_HUMAN			YES	WDR81,missense_variant,p.Ala167Thr,ENST00000409644,NM_001163809.1;WDR81,intron_variant,,ENST00000309182,NM_152348.3;WDR81,intron_variant,,ENST00000419248,NM_001163811.1;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000575206,;RP11-961A15.1,downstream_gene_variant,,ENST00000576540,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000464528,;							MODERATE	499/5826		WDR81_HUMAN			Transcript		benign(0.005)	.	ENSP00000386609		CCDS54062.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103082589	103082589	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	24	12	.	.	ENST00000398093.3:c.8611C>T	p.Arg2871Ter	p.R2871*	ENST00000398093		2871	Cga/Tga	0	1		UPI0000418CA2	0	NA	ENST00000375735		ENSG00000187240	2962		36	0		HGNC	p.R2871X		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,103082589,C,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		R/*		T	NA	8755/13678		NA						DYNC2H1,stop_gained,p.Arg2871Ter,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,stop_gained,p.Arg2871Ter,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;DYNC2H1,non_coding_transcript_exon_variant,,ENST00000533027,;							HIGH	8611/12924	R2871*	DYHC2_HUMAN			Transcript			.	ENSP00000364887		CCDS53701.1			1	
NTHL1	0	LGGM	GRCh37	16	2090228	2090228	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	43	12	.	.	ENST00000219066.1:c.721C>A	p.His241Asn	p.H241N	ENST00000219066	NM_002528.5	241	Cat/Aat	0	1	1	UPI0000130586	0	getma.org/pdb.php?prot=NTHL1_HUMAN&from=134&to=272&var=H241N	ENST00000219066		ENSG00000065057	8028		55	4.005		HGNC	p.H241N		NTHL1		SNV							ENST00000219066	protein_coding	getma.org/?cm=var&var=hg19,16,2090228,G,T&fts=all		Gene3D:1.10.1670.10,Pfam_domain:PF00730,hmmpanther:PTHR10359,SMART_domains:SM00478,Superfamily_domains:SSF48150		H/N		T	high	740/1067		getma.org/?cm=msa&ty=f&p=NTHL1_HUMAN&rb=134&re=272&var=H241N	deleterious(0)	E5KTI5_HUMAN			YES	NTHL1,missense_variant,p.His241Asn,ENST00000219066,NM_002528.5;NTHL1,missense_variant,p.His165Asn,ENST00000566380,;SLC9A3R2,downstream_gene_variant,,ENST00000424542,NM_001130012.2,NM_004785.5;SLC9A3R2,downstream_gene_variant,,ENST00000432365,;SLC9A3R2,downstream_gene_variant,,ENST00000566198,NM_001252073.1,NM_001252076.1,NM_001252075.1;SLC9A3R2,downstream_gene_variant,,ENST00000563587,;SLC9A3R2,downstream_gene_variant,,ENST00000565855,;SLC9A3R2,downstream_gene_variant,,ENST00000561844,;SLC9A3R2,downstream_gene_variant,,ENST00000567504,;NTHL1,non_coding_transcript_exon_variant,,ENST00000562951,;SLC9A3R2,downstream_gene_variant,,ENST00000565086,;NTHL1,3_prime_UTR_variant,,ENST00000561841,;NTHL1,3_prime_UTR_variant,,ENST00000568513,;NTHL1,non_coding_transcript_exon_variant,,ENST00000565406,;NTHL1,non_coding_transcript_exon_variant,,ENST00000567727,;NTHL1,non_coding_transcript_exon_variant,,ENST00000561862,;SLC9A3R2,downstream_gene_variant,,ENST00000564033,;NTHL1,downstream_gene_variant,,ENST00000562120,;							MODERATE	721/939	H241N	NTHL1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000219066		CCDS10457.1			1	
URB1	0	LGGM	GRCh37	21	33692950	33692950	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	90	13	.	.	ENST00000382751.3:c.5485A>T	p.Asn1829Tyr	p.N1829Y	ENST00000382751	NM_014825.2	1829	Aat/Tat	0	1	1	UPI0000185F65	0	NA	ENST00000382751		ENSG00000142207	17344		103	2.08		HGNC	p.N1829Y		URB1		SNV							ENST00000382751	protein_coding	getma.org/?cm=var&var=hg19,21,33692950,T,A&fts=all		hmmpanther:PTHR13500,Superfamily_domains:SSF48371		N/Y		A	medium	5601/10832		getma.org/?cm=msa&ty=f&p=NPA1P_HUMAN&rb=1718&re=1887&var=N1829Y	tolerated(0.39)				YES	URB1,missense_variant,p.Asn1829Tyr,ENST00000382751,NM_014825.2;							MODERATE	5485/6816	N1829Y	NPA1P_HUMAN			Transcript		benign(0.024)	.	ENSP00000372199		CCDS46645.1			1	
CENPN	0	LGGM	GRCh37	16	81061867	81061867	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	33	13	.	.	ENST00000393335.3:c.902A>G	p.His301Arg	p.H301R	ENST00000393335	NM_001100625.2	301	cAt/cGt	0	1		UPI00001AEE0A	0	NA	ENST00000305850		ENSG00000166451	30873		46	2.215		HGNC	p.H301R		CENPN		SNV							ENST00000305850	protein_coding	getma.org/?cm=var&var=hg19,16,81061867,A,G&fts=all		hmmpanther:PTHR32250,hmmpanther:PTHR32250:SF3,Pfam_domain:PF05238		H/R		G	medium	1692/2481		getma.org/?cm=msa&ty=f&p=CENPN_HUMAN&rb=3&re=339&var=H301R	deleterious(0)	H3BMC7_HUMAN				CENPN,missense_variant,p.His301Arg,ENST00000305850,NM_001100624.2,NM_001270474.1;CENPN,missense_variant,p.His281Arg,ENST00000439957,NM_001270473.1;CENPN,missense_variant,p.His301Arg,ENST00000393335,NM_001100625.2;CENPN,missense_variant,p.His267Arg,ENST00000428963,;RP11-303E16.3,intron_variant,,ENST00000561808,;RP11-303E16.3,intron_variant,,ENST00000566390,;RP11-303E16.2,upstream_gene_variant,,ENST00000566639,;RP11-303E16.3,upstream_gene_variant,,ENST00000562315,;							MODERATE	902/1020	H301R	CENPN_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000305608		CCDS42200.1			1	
HOXA6	0	LGGM	GRCh37	7	27186975	27186975	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	44	13	.	.	ENST00000222728.3:c.394T>C	p.Tyr132His	p.Y132H	ENST00000222728	NM_024014.3	132	Tac/Cac	0	1	1	UPI000012CF32	0	NA	ENST00000222728		ENSG00000106006	5107		57	1.09		HGNC	p.Y132H		HOXA6		SNV							ENST00000222728	protein_coding	getma.org/?cm=var&var=hg19,7,27186975,A,G&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF142		Y/H		G	low	419/989		getma.org/?cm=msa&ty=f&p=HXA6_HUMAN&rb=101&re=185&var=Y132H	tolerated(0.55)				YES	HOXA6,missense_variant,p.Tyr132His,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,;							MODERATE	394/702	Y132H	HXA6_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000222728		CCDS5407.1			1	
FUZ	0	LGGM	GRCh37	19	50315838	50315838	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	24	13	.	.	ENST00000313777.4:c.233+34C>A		*78*	ENST00000313777	NM_025129.4			0	1	1	UPI00000736B0	0		ENST00000313777		ENSG00000010361	26219		37			HGNC	p.G89G		FUZ		SNV			1				ENST00000527111	protein_coding							T		-/1675				M0R1D4_HUMAN,E9PK12_HUMAN			YES	FUZ,intron_variant,,ENST00000313777,NM_025129.4;FUZ,intron_variant,,ENST00000533418,;FUZ,intron_variant,,ENST00000528094,NM_001171937.1;FUZ,intron_variant,,ENST00000445575,;FUZ,intron_variant,,ENST00000529302,;FUZ,intron_variant,,ENST00000526575,;FUZ,upstream_gene_variant,,ENST00000529634,;AC006942.4,downstream_gene_variant,,ENST00000600669,;FUZ,intron_variant,,ENST00000534008,;FUZ,upstream_gene_variant,,ENST00000527973,;FUZ,synonymous_variant,p.=,ENST00000527111,;FUZ,synonymous_variant,p.=,ENST00000525800,;FUZ,synonymous_variant,p.=,ENST00000526435,;FUZ,intron_variant,,ENST00000377092,;FUZ,intron_variant,,ENST00000525130,;FUZ,intron_variant,,ENST00000525370,;FUZ,intron_variant,,ENST00000531017,;FUZ,intron_variant,,ENST00000528043,;FUZ,intron_variant,,ENST00000527585,;FUZ,upstream_gene_variant,,ENST00000534138,;							MODIFIER	-/1257		FUZZY_HUMAN			Transcript			.	ENSP00000313309		CCDS12781.1			1	
PTGER3	0	LGGM	GRCh37	1	71478067	71478067	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	31	13	.	.	ENST00000356595.4:c.998G>A	p.Arg333His	p.R333H	ENST00000356595	NM_198718.1	333	cGc/cAc	0	1		UPI0000131534	0	NA	ENST00000306666		ENSG00000050628	9595		44	3.02		HGNC	p.R333H		PTGER3		SNV							ENST00000414819	protein_coding	getma.org/?cm=var&var=hg19,1,71478067,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR11866:SF10,hmmpanther:PTHR11866,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		R/H		T	medium	1209/2333		getma.org/?cm=msa&ty=f&p=PE2R3_HUMAN&rb=65&re=346&var=R333H	deleterious(0.02)	Q9UBW3_HUMAN,B2KKV4_HUMAN				PTGER3,missense_variant,p.Arg333His,ENST00000370924,NM_198715.2;PTGER3,missense_variant,p.Arg333His,ENST00000306666,NM_198719.1;PTGER3,missense_variant,p.Arg333His,ENST00000414819,NM_001126044.1;PTGER3,missense_variant,p.Arg333His,ENST00000351052,;PTGER3,missense_variant,p.Arg333His,ENST00000356595,NM_198718.1;PTGER3,missense_variant,p.Arg333His,ENST00000370931,NM_198714.1;PTGER3,missense_variant,p.Arg333His,ENST00000370932,NM_198717.1;PTGER3,missense_variant,p.Arg333His,ENST00000354608,;PTGER3,missense_variant,p.Arg333His,ENST00000460330,NM_198716.1;PTGER3,missense_variant,p.Arg333His,ENST00000497146,;PTGER3,missense_variant,p.Arg333His,ENST00000361210,;PTGER3,missense_variant,p.Arg333His,ENST00000479353,;							MODERATE	998/1173	R333H	PE2R3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302313		CCDS657.1			1	
GREB1L	0	LGGM	GRCh37	18	18963482	18963482	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	39	13	.	.	ENST00000580732.2:c.3G>T	p.Met1?	p.M1?	ENST00000580732		1	atG/atT	0	1		UPI0001642876	0	NA	ENST00000424526		ENSG00000141449	31042		52	0		HGNC	p.M1I		GREB1L		SNV							ENST00000431264	protein_coding	getma.org/?cm=var&var=hg19,18,18963482,G,T&fts=all				M/I		T	NA	274/6052		http://getma.org/?cm=msa&ty=f&p=GRB1L_HUMAN&rb=1&re=1921&var=M1I	deleterious(0)					GREB1L,start_lost,p.Met1?,ENST00000580732,;GREB1L,start_lost,p.Met1?,ENST00000424526,NM_001142966.1;GREB1L,start_lost,p.Met1?,ENST00000400483,;GREB1L,start_lost,p.Met1?,ENST00000269218,;GREB1L,start_lost,p.Met1?,ENST00000431264,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;							HIGH	Mar-72	M1I	GRB1L_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000412060		CCDS45836.1			1	
TP53BP1	0	LGGM	GRCh37	15	43748493	43748493	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	36	14	.	.	ENST00000382044.4:c.2313C>T	p.Pro771=	p.P771=	ENST00000382044	NM_001141980.1	771	ccC/ccT	0	1		UPI0000131031	0		ENST00000263801		ENSG00000067369	11999		50			HGNC	p.P771P		TP53BP1		SNV							ENST00000450115	protein_coding			hmmpanther:PTHR15321		P		A		2551/6346				B3KVT9_HUMAN				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,synonymous_variant,p.=,ENST00000411772,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000480860,;							LOW	2298/5919		TP53B_HUMAN			Transcript			.	ENSP00000263801		CCDS10096.1			1	
BAP1	0	LGGM	GRCh37	3	52439823	52439823	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	11	14	.	.	ENST00000460680.1:c.889G>T	p.Glu297Ter	p.E297*	ENST00000460680	NM_004656.3	297	Gaa/Taa	0	1	1	UPI0000071B3D	0	NA	ENST00000460680		ENSG00000163930	950		25	0		HGNC	p.E297X	COSM422741	BAP1		SNV			1			1	ENST00000460680	protein_coding	getma.org/?cm=var&var=hg19,3,52439823,C,A&fts=all		hmmpanther:PTHR10589:SF23,hmmpanther:PTHR10589		E/*		A	NA	1361/3937		NA		F8WEY5_HUMAN,C9J7L9_HUMAN			YES	BAP1,stop_gained,p.Glu297Ter,ENST00000460680,NM_004656.3;BAP1,stop_gained,p.Glu279Ter,ENST00000296288,;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5;BAP1,upstream_gene_variant,,ENST00000469613,;BAP1,upstream_gene_variant,,ENST00000478368,;BAP1,downstream_gene_variant,,ENST00000470173,;BAP1,upstream_gene_variant,,ENST00000466093,;BAP1,downstream_gene_variant,,ENST00000471532,;BAP1,upstream_gene_variant,,ENST00000490804,;BAP1,downstream_gene_variant,,ENST00000483984,;BAP1,downstream_gene_variant,,ENST00000490917,;					1		HIGH	889/2190	E297*	BAP1_HUMAN			Transcript			.	ENSP00000417132		CCDS2853.1			1	
NCBP2	0	LGGM	GRCh37	3	196663937	196663937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	40	15	.	.	ENST00000321256.5:c.416G>T	p.Arg139Leu	p.R139L	ENST00000321256	NM_007362.3	139	cGg/cTg	0	1	1	UPI0000046578	0	getma.org/pdb.php?prot=NCBP2_HUMAN&from=113&to=156&var=R139L	ENST00000321256		ENSG00000114503	7659		55	3.73		HGNC	p.R69L		NCBP2		SNV							ENST00000411704	protein_coding	getma.org/?cm=var&var=hg19,3,196663937,C,A&fts=all		hmmpanther:PTHR18847,hmmpanther:PTHR18847:SF2,Superfamily_domains:SSF54928		R/L		A	high	510/2169		getma.org/?cm=msa&ty=f&p=NCBP2_HUMAN&rb=113&re=156&var=R139L	deleterious(0)	B3KSB0_HUMAN,C9JQX9_HUMAN			YES	NCBP2,missense_variant,p.Arg69Leu,ENST00000447325,;NCBP2,missense_variant,p.Arg139Leu,ENST00000321256,NM_007362.3;NCBP2,missense_variant,p.Arg86Leu,ENST00000427641,NM_001042540.1;NCBP2,missense_variant,p.Arg121Leu,ENST00000452404,;NCBP2,missense_variant,p.Arg69Leu,ENST00000422610,;NCBP2,missense_variant,p.Arg69Leu,ENST00000411704,;SENP5,downstream_gene_variant,,ENST00000323460,NM_152699.4;SENP5,downstream_gene_variant,,ENST00000434433,;NCBP2,downstream_gene_variant,,ENST00000455953,;NCBP2-AS1,upstream_gene_variant,,ENST00000447775,;NCBP2,non_coding_transcript_exon_variant,,ENST00000467803,;NCBP2,3_prime_UTR_variant,,ENST00000428425,;NCBP2,non_coding_transcript_exon_variant,,ENST00000463783,;NCBP2,non_coding_transcript_exon_variant,,ENST00000468923,;NCBP2,downstream_gene_variant,,ENST00000482976,;NCBP2,downstream_gene_variant,,ENST00000479647,;							MODERATE	416/471	R139L	NCBP2_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000326806		CCDS3323.1			1	
SH3BP4	0	LGGM	GRCh37	2	235950900	235950900	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	22	15	.	.	ENST00000409212.1:c.1487G>A	p.Gly496Glu	p.G496E	ENST00000409212		496	gGg/gAg	0	1		UPI000006DA47	0	NA	ENST00000344528		ENSG00000130147	10826		37	2.325		HGNC	p.G496E		SH3BP4		SNV							ENST00000392011	protein_coding	getma.org/?cm=var&var=hg19,2,235950900,G,A&fts=all		hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603		G/E		A	medium	1807/5044		getma.org/?cm=msa&ty=f&p=SH3B4_HUMAN&rb=414&re=613&var=G496E	deleterious(0)	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN				SH3BP4,missense_variant,p.Gly496Glu,ENST00000409212,;SH3BP4,missense_variant,p.Gly496Glu,ENST00000392011,NM_014521.2;SH3BP4,missense_variant,p.Gly496Glu,ENST00000344528,;SH3BP4,downstream_gene_variant,,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;							MODERATE	1487/2892	G496E	SH3B4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000340237		CCDS2513.1			1	
TOMM70A	0	LGGM	GRCh37	3	100103421	100103421	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	41	16	.	.	ENST00000284320.5:c.637G>T	p.Val213Leu	p.V213L	ENST00000284320	NM_014820.4	213	Gtg/Ttg	0	1	1	UPI0000000C55	0	NA	ENST00000284320		ENSG00000154174	11985		57	2.085		HGNC	p.V213L		TOMM70A		SNV							ENST00000284320	protein_coding	getma.org/?cm=var&var=hg19,3,100103421,C,A&fts=all		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF178,SMART_domains:SM00028,Superfamily_domains:SSF48452		V/L		A	medium	1086/4409		getma.org/?cm=msa&ty=f&p=TOM70_HUMAN&rb=187&re=364&var=V213L	tolerated(0.06)	B4DZ87_HUMAN,B3KQK5_HUMAN,B3KQK0_HUMAN			YES	TOMM70A,missense_variant,p.Val213Leu,ENST00000284320,NM_014820.4;TOMM70A,upstream_gene_variant,,ENST00000492171,;							MODERATE	637/1827	V213L	TOM70_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000284320		CCDS33807.1			1	
PPP1R12B	0	LGGM	GRCh37	1	202411681	202411681	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	78	17	.	.	ENST00000608999.1:c.1648G>A	p.Val550Ile	p.V550I	ENST00000608999	NM_002481.3	550	Gta/Ata	0	1	1	UPI0000458A57	0	NA	ENST00000608999		ENSG00000077157	7619		95	1.95		HGNC	p.V550I		PPP1R12B		SNV							ENST00000336894	protein_coding	getma.org/?cm=var&var=hg19,1,202411681,G,A&fts=all		PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18		V/I		A	medium	1801/15248		getma.org/?cm=msa&ty=f&p=MYPT2_HUMAN&rb=482&re=607&var=V550I	tolerated(0.12)				YES	PPP1R12B,missense_variant,p.Val550Ile,ENST00000608999,NM_002481.3,NM_001197131.1;PPP1R12B,missense_variant,p.Val550Ile,ENST00000336894,;PPP1R12B,downstream_gene_variant,,ENST00000480184,NM_001167857.1;PPP1R12B,downstream_gene_variant,,ENST00000356764,NM_001167858.1;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000434615,;RP11-175B9.2,downstream_gene_variant,,ENST00000602961,;PPP1R12B,downstream_gene_variant,,ENST00000464965,;PPP1R12B,downstream_gene_variant,,ENST00000476364,;RP11-175B9.2,downstream_gene_variant,,ENST00000417053,;							MODERATE	1648/2949	V550I				Transcript		benign(0.075)	.	ENSP00000476755		CCDS1426.1			1	
KIAA1549	0	LGGM	GRCh37	7	138591803	138591803	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	57	18	.	.	ENST00000422774.1:c.3322G>T	p.Gly1108Cys	p.G1108C	ENST00000422774		1108	Ggc/Tgc	0	1	1	UPI0001837EBD	0	NA	ENST00000422774		ENSG00000122778	22219		75	1.1		HGNC	p.G1058C		KIAA1549		SNV			1				ENST00000242365	protein_coding	getma.org/?cm=var&var=hg19,7,138591803,C,A&fts=all		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877		G/C		A	low	3371/6283		getma.org/?cm=msa&ty=f&p=K1549_HUMAN&rb=1035&re=1702&var=G1108C	deleterious(0)				YES	KIAA1549,missense_variant,p.Gly1108Cys,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,missense_variant,p.Gly1058Cys,ENST00000242365,;KIAA1549,missense_variant,p.Gly1108Cys,ENST00000422774,;							MODERATE	3322/5853	G1108C	K1549_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000416040		CCDS56513.1			1	
DIEXF	0	LGGM	GRCh37	1	210014310	210014310	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	83	18	.	.	ENST00000491415.2:c.1395G>T	p.Lys465Asn	p.K465N	ENST00000491415	NM_014388.6	465	aaG/aaT	0	1	1	UPI000006D987	0	NA	ENST00000491415		ENSG00000117597	28440		101	2.315		HGNC	p.K465N		DIEXF		SNV							ENST00000491415	protein_coding	getma.org/?cm=var&var=hg19,1,210014310,G,T&fts=all		hmmpanther:PTHR12933,Pfam_domain:PF06862,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		K/N		T	medium	1452/8446		getma.org/?cm=msa&ty=f&p=DIEXF_HUMAN&rb=313&re=751&var=K465N	tolerated(0.12)	B3KVX2_HUMAN			YES	DIEXF,missense_variant,p.Lys465Asn,ENST00000491415,NM_014388.6;DIEXF,missense_variant,p.Lys146Asn,ENST00000457820,;							MODERATE	1395/2271	K465N	DIEXF_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000419005		CCDS1493.1			1	
MON2	0	LGGM	GRCh37	12	62894642	62894642	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	67	18	.	.	ENST00000393632.2:c.645T>C	p.Asp215=	p.D215=	ENST00000393632	NM_001278472.1	215	gaT/gaC	0	1		UPI0000D45F87	0		ENST00000393630		ENSG00000061987	29177		85			HGNC	p.D215D		MON2		SNV							ENST00000280379	protein_coding			Pfam_domain:PF12783,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371		D		C		1036/10382								MON2,synonymous_variant,p.=,ENST00000393630,;MON2,synonymous_variant,p.=,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,synonymous_variant,p.=,ENST00000546600,NM_001278469.1;MON2,synonymous_variant,p.=,ENST00000393629,NM_001278470.1;MON2,synonymous_variant,p.=,ENST00000552738,NM_001278471.1;MON2,synonymous_variant,p.=,ENST00000280379,;MON2,synonymous_variant,p.=,ENST00000552115,;MON2,non_coding_transcript_exon_variant,,ENST00000549378,;MON2,3_prime_UTR_variant,,ENST00000547095,;							LOW	645/5157		MON2_HUMAN			Transcript			.	ENSP00000377250					1	
PHACTR3	0	LGGM	GRCh37	20	58381245	58381245	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	54	18	.	.	ENST00000371015.1:c.1324T>C	p.Ser442Pro	p.S442P	ENST00000371015	NM_080672.4	442	Tcc/Ccc	0	1	1	UPI000006D452	0	NA	ENST00000371015		ENSG00000087495	15833		72	0.345		HGNC	p.S401P		PHACTR3		SNV							ENST00000541461	protein_coding	getma.org/?cm=var&var=hg19,20,58381245,T,C&fts=all		SMART_domains:SM00707,Pfam_domain:PF02755,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7,PROSITE_profiles:PS51073		S/P		C	neutral	1791/2728		getma.org/?cm=msa&ty=f&p=PHAR3_HUMAN&rb=419&re=484&var=S442P	deleterious(0)	F6RP66_HUMAN			YES	PHACTR3,missense_variant,p.Ser442Pro,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Ser331Pro,ENST00000395639,;PHACTR3,missense_variant,p.Ser401Pro,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Ser439Pro,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Ser401Pro,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Ser331Pro,ENST00000361300,NM_183246.1;PHACTR3,missense_variant,p.Ser401Pro,ENST00000541461,NM_001281507.1;							MODERATE	1324/1680	S442P	PHAR3_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000360054		CCDS13480.1			1	
ARID2	0	LGGM	GRCh37	12	46285646	46285646	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	75	19	.	.	ENST00000334344.6:c.5006G>A	p.Trp1669Ter	p.W1669*	ENST00000334344	NM_152641.2	1669	tGg/tAg	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		94	0		HGNC	p.W277X		ARID2		SNV							ENST00000457135	protein_coding	getma.org/?cm=var&var=hg19,12,46285646,G,A&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14		W/*		A	NA	5178/8642		NA		Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,stop_gained,p.Trp1669Ter,ENST00000334344,NM_152641.2;ARID2,stop_gained,p.Trp1279Ter,ENST00000444670,;ARID2,stop_gained,p.Trp1520Ter,ENST00000422737,;ARID2,stop_gained,p.Trp277Ter,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000477947,;							HIGH	5006/5508	W1669*	ARID2_HUMAN			Transcript			.	ENSP00000335044		CCDS31783.1			1	
DYTN	0	LGGM	GRCh37	2	207527803	207527803	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	102	19	.	.	ENST00000452335.2:c.1457G>T	p.Gly486Val	p.G486V	ENST00000452335	NM_001093730.1	486	gGa/gTa	0	1	1	UPI0000EE0AB9	0	NA	ENST00000452335		ENSG00000232125	23279		121	0.55		HGNC	p.G486V		DYTN		SNV							ENST00000452335	protein_coding	getma.org/?cm=var&var=hg19,2,207527803,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237		G/V		A	neutral	1574/2051		getma.org/?cm=msa&ty=f&p=DYTN_HUMAN&rb=316&re=576&var=G486V	tolerated(0.09)				YES	DYTN,missense_variant,p.Gly486Val,ENST00000452335,NM_001093730.1;							MODERATE	1457/1737	G486V	DYTN_HUMAN			Transcript		benign(0.266)	.	ENSP00000396593		CCDS46502.1			1	
FAT4	0	LGGM	GRCh37	4	126329842	126329842	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	69	20	.	.	ENST00000394329.3:c.5813A>G	p.Asn1938Ser	p.N1938S	ENST00000394329	NM_024582.4	1938	aAt/aGt	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=1842&to=1944&var=N1938S	ENST00000394329		ENSG00000196159	23109		89	3.595		HGNC	p.N1938S		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126329842,A,G&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		N/S		G	high	5826/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=1842&re=1944&var=N1938S		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Asn1938Ser,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Asn236Ser,ENST00000335110,;							MODERATE	5813/14946	N1938S	FAT4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000377862		CCDS3732.3			1	
HOOK3	0	LGGM	GRCh37	8	42841887	42841887	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	49	21	.	.	ENST00000307602.4:c.1481G>A	p.Ser494Asn	p.S494N	ENST00000307602	NM_032410.3	494	aGc/aAc	0	1	1	UPI000006DD7B	0	NA	ENST00000307602		ENSG00000168172	23576		70	0.895		HGNC	p.S494N		HOOK3		SNV							ENST00000307602	protein_coding	getma.org/?cm=var&var=hg19,8,42841887,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF9,Pfam_domain:PF05622		S/N		A	low	1681/14398		getma.org/?cm=msa&ty=f&p=HOOK3_HUMAN&rb=5&re=718&var=S494N	tolerated(0.35)				YES	HOOK3,missense_variant,p.Ser494Asn,ENST00000307602,NM_032410.3;HOOK3,missense_variant,p.Ser80Asn,ENST00000526882,;HOOK3,non_coding_transcript_exon_variant,,ENST00000527306,;							MODERATE	1481/2157	S494N	HOOK3_HUMAN			Transcript		benign(0.341)	.	ENSP00000305699		CCDS6139.1			1	
MUC4	0	LGGM	GRCh37	3	195505721	195505721	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	27	21	.	.	ENST00000463781.3:c.12730A>T	p.Ser4244Cys	p.S4244C	ENST00000463781	NM_018406.6	4244	Agc/Tgc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		48	0		HGNC	p.S4244C		MUC4		SNV							ENST00000477086	protein_coding	getma.org/?cm=var&var=hg19,3,195505721,T,A&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,Low_complexity_(Seg):seg		S/C		A	neutral	13190/17110		getma.org/?cm=msa&ty=f&p=MUC4_HUMAN&rb=1&re=1061&var=S1001C		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Ser4244Cys,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Ser4244Cys,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Ser4244Cys,ENST00000478156,;MUC4,missense_variant,p.Ser4244Cys,ENST00000466475,;MUC4,missense_variant,p.Ser4244Cys,ENST00000477756,;MUC4,missense_variant,p.Ser4244Cys,ENST00000477086,;MUC4,missense_variant,p.Ser4244Cys,ENST00000480843,;MUC4,missense_variant,p.Ser4244Cys,ENST00000462323,;MUC4,missense_variant,p.Ser4244Cys,ENST00000470451,;MUC4,missense_variant,p.Ser4244Cys,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	12730/16239	S1001C				Transcript		probably_damaging(0.923)	.	ENSP00000417498		CCDS54700.1			1	
CHD9	0	LGGM	GRCh37	16	53260287	53260287	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	44	25	.	.	ENST00000566029.1:c.1906T>G	p.Ser636Ala	p.S636A	ENST00000566029		636	Tca/Gca	0	1		UPI0000E02AC8	0	NA	ENST00000398510		ENSG00000177200	25701		69	2.085		HGNC	p.S162A		CHD9		SNV							ENST00000565803	protein_coding	getma.org/?cm=var&var=hg19,16,53260287,T,G&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48		S/A		G	medium	1993/11337		getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=121&re=683&var=S636A		H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,missense_variant,p.Ser636Ala,ENST00000566029,;CHD9,missense_variant,p.Ser636Ala,ENST00000564845,;CHD9,missense_variant,p.Ser636Ala,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Ser636Ala,ENST00000398510,;CHD9,missense_variant,p.Ser162Ala,ENST00000565803,;CHD9,downstream_gene_variant,,ENST00000565832,;CHD9,downstream_gene_variant,,ENST00000565442,;CHD9,non_coding_transcript_exon_variant,,ENST00000562791,;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,;							MODERATE	1906/8694	S636A	CHD9_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000381522					1	
WBP11	0	LGGM	GRCh37	12	14947576	14947576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	60	25	.	.	ENST00000261167.2:c.616C>A	p.Pro206Thr	p.P206T	ENST00000261167	NM_016312.2	206	Cca/Aca	0	1	1	UPI0000035FC2	0	NA	ENST00000261167		ENSG00000084463	16461		85	1.905		HGNC	p.P206T		WBP11		SNV							ENST00000261167	protein_coding	getma.org/?cm=var&var=hg19,12,14947576,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361		P/T		T	medium	850/2749		getma.org/?cm=msa&ty=f&p=WBP11_HUMAN&rb=95&re=294&var=P206T	deleterious_low_confidence(0.02)	F5GXS9_HUMAN,B4DMD3_HUMAN			YES	WBP11,missense_variant,p.Pro206Thr,ENST00000261167,NM_016312.2;WBP11,intron_variant,,ENST00000535638,;WBP11,downstream_gene_variant,,ENST00000544764,;							MODERATE	616/1926	P206T	WBP11_HUMAN			Transcript		unknown(0)	.	ENSP00000261167		CCDS8666.1			1	
CHD2	0	LGGM	GRCh37	15	93547871	93547871	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	50	28	.	.	ENST00000394196.4:c.4303T>G	p.Ser1435Ala	p.S1435A	ENST00000394196	NM_001271.3	1435	Tcg/Gcg	0	1	1	UPI0000E8A85C	0	NA	ENST00000394196		ENSG00000173575	1917		78	0		HGNC	p.S1435A		CHD2		SNV			1				ENST00000557381	protein_coding	getma.org/?cm=var&var=hg19,15,93547871,T,G&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Low_complexity_(Seg):seg		S/A		G	neutral	5371/9857		getma.org/?cm=msa&ty=f&p=CHD2_HUMAN&rb=1306&re=1454&var=S1435A	tolerated(0.64)	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,missense_variant,p.Ser1435Ala,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Ser1435Ala,ENST00000557381,;CHD2,upstream_gene_variant,,ENST00000557759,;CHD2,3_prime_UTR_variant,,ENST00000582447,;							MODERATE	4303/5487	S1435A	CHD2_HUMAN			Transcript		benign(0)	.	ENSP00000377747		CCDS10374.2			1	
TOP1MT	0	LGGM	GRCh37	8	144406240	144406240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080196	H080196N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	63	29	.	.	ENST00000329245.4:c.889T>C	p.Tyr297His	p.Y297H	ENST00000329245	NM_052963.2	297	Tac/Cac	0	1	1	UPI000013716D	0	getma.org/pdb.php?prot=TOP1M_HUMAN&from=267&to=504&var=Y297H	ENST00000329245		ENSG00000184428	29787		92	4.035		HGNC	p.Y199H		TOP1MT		SNV							ENST00000522041	protein_coding	getma.org/?cm=var&var=hg19,8,144406240,A,G&fts=all		hmmpanther:PTHR10290,Pfam_domain:PF01028,Gene3D:3.90.15.10,SMART_domains:SM00435,Superfamily_domains:SSF56349		Y/H		G	high	924/1958		getma.org/?cm=msa&ty=f&p=TOP1M_HUMAN&rb=267&re=504&var=Y297H	deleterious(0)	E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN			YES	TOP1MT,missense_variant,p.Tyr199His,ENST00000523676,;TOP1MT,missense_variant,p.Tyr199His,ENST00000521193,NM_001258446.1;TOP1MT,missense_variant,p.Tyr297His,ENST00000329245,NM_052963.2;TOP1MT,missense_variant,p.Tyr199His,ENST00000519148,NM_001258447.1;TOP1MT,missense_variant,p.Tyr199His,ENST00000519139,;TOP1MT,missense_variant,p.Tyr199His,ENST00000519591,;TOP1MT,missense_variant,p.Tyr199His,ENST00000522041,;TOP1MT,downstream_gene_variant,,ENST00000518760,;TOP1MT,downstream_gene_variant,,ENST00000520950,;TOP1MT,downstream_gene_variant,,ENST00000518007,;TOP1MT,3_prime_UTR_variant,,ENST00000518951,;TOP1MT,downstream_gene_variant,,ENST00000522121,;TOP1MT,downstream_gene_variant,,ENST00000523417,;							MODERATE	889/1806	Y297H	TOP1M_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000328835		CCDS6400.1			1	
SHC1	0	LGGM	GRCh37	1	154938471	154938482	+	inframe_deletion	In_Frame_Del	DEL	GGGCCCAGCACC	GGGCCCAGCACC	-	novel	by Submitter	H080196	H080196N.bam	GGGCCCAGCACC	GGGCCCAGCACC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	62	30	.	.	ENST00000448116.2:c.1327_1338del	p.Gly443_Pro446del	p.G443_P446del	ENST00000448116	NM_001130040.1	443	GGTGCTGGGCCC/-	0	1		UPI000013EE17	0		ENST00000368445		ENSG00000160691	10840		92			HGNC	p.443_446del		SHC1		deletion							ENST00000448116	protein_coding			hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF2,Low_complexity_(Seg):seg		GAGP/-		-		1539-1550/3472				Q8NFT1_HUMAN,Q8NFT0_HUMAN,Q5T187_HUMAN,Q5T181_HUMAN				SHC1,inframe_deletion,p.Gly443_Pro446del,ENST00000448116,NM_001130040.1;SHC1,inframe_deletion,p.Gly442_Pro445del,ENST00000368445,NM_183001.4;SHC1,inframe_deletion,p.Gly333_Pro336del,ENST00000368453,NM_003029.4;SHC1,inframe_deletion,p.Gly332_Pro335del,ENST00000368450,NM_001130041.1,NM_001202859.1;SHC1,inframe_deletion,p.Gly213_Pro216del,ENST00000368449,;SHC1,inframe_deletion,p.Gly243_Pro246del,ENST00000606391,;SHC1,inframe_deletion,p.Gly106_Pro109del,ENST00000444664,;SHC1,inframe_deletion,p.Gly196_Pro199del,ENST00000414115,;PYGO2,upstream_gene_variant,,ENST00000368457,NM_138300.3;PYGO2,upstream_gene_variant,,ENST00000368456,;SHC1,downstream_gene_variant,,ENST00000366442,;SHC1,downstream_gene_variant,,ENST00000412170,;SHC1,downstream_gene_variant,,ENST00000444179,;RP11-307C12.12,downstream_gene_variant,,ENST00000605085,;SHC1,upstream_gene_variant,,ENST00000490667,;PYGO2,upstream_gene_variant,,ENST00000483463,;							MODERATE	1324-1335/1752		SHC1_HUMAN			Transcript			.	ENSP00000357430		CCDS30881.1			1	
HHLA2	0	LGGM	GRCh37	3	108074214	108074214	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080196	H080196N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	136	30	.	.	ENST00000357759.5:c.671G>A	p.Arg224His	p.R224H	ENST00000357759	NM_007072.2	224	cGc/cAc	0	1	1	UPI0000073CD9	0	NA	ENST00000357759		ENSG00000114455	4905		166	0.345		HGNC	p.R160H	rs745546279	HHLA2		SNV				0.000104			ENST00000467562	protein_coding	getma.org/?cm=var&var=hg19,3,108074214,G,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF44,Superfamily_domains:SSF48726		R/H		A	neutral	1085/2666		getma.org/?cm=msa&ty=f&p=HHLA2_HUMAN&rb=193&re=255&var=R224H	deleterious(0.03)	C9JY43_HUMAN,C9JY13_HUMAN,C9JD07_HUMAN,C9J8J7_HUMAN			YES	HHLA2,missense_variant,p.Arg224His,ENST00000357759,NM_007072.2;HHLA2,missense_variant,p.Arg127His,ENST00000482099,;HHLA2,missense_variant,p.Arg224His,ENST00000489514,NM_001282557.1;HHLA2,missense_variant,p.Arg224His,ENST00000467761,NM_001282556.1;HHLA2,missense_variant,p.Arg160His,ENST00000467562,NM_001282559.1;HHLA2,missense_variant,p.Arg224His,ENST00000491820,NM_001282558.1;HHLA2,downstream_gene_variant,,ENST00000463019,;HHLA2,downstream_gene_variant,,ENST00000462629,;HHLA2,downstream_gene_variant,,ENST00000482430,;HHLA2,downstream_gene_variant,,ENST00000467282,;							MODERATE	671/1245	R224H	HHLA2_HUMAN			Transcript		benign(0.137)	.	ENSP00000350402	8.28E-06	CCDS46883.1			1	
CHN1	0	LGGM	GRCh37	2	175666542	175666542	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	85	32	.	.	ENST00000409900.3:c.1103-2A>G		p.X368_splice	ENST00000409900	NM_001822.5			0	1	1	UPI000012781D	0		ENST00000409900		ENSG00000128656	1943		117			HGNC	-		CHN1		SNV			1				ENST00000409900	protein_coding							C		-/2447				C9J3G1_HUMAN			YES	CHN1,splice_acceptor_variant,,ENST00000409900,NM_001822.5;CHN1,splice_acceptor_variant,,ENST00000295497,NM_001206602.1;CHN1,splice_acceptor_variant,,ENST00000409156,NM_001025201.3;CHN1,splice_acceptor_variant,,ENST00000409597,;CHN1,splice_acceptor_variant,,ENST00000444394,;CHN1,splice_acceptor_variant,,ENST00000409089,;CHN1,splice_acceptor_variant,,ENST00000488080,;CHN1,non_coding_transcript_exon_variant,,ENST00000492964,;							HIGH	1103/1380		CHIN_HUMAN			Transcript			.	ENSP00000386741		CCDS46455.1			1	
RFPL2	0	LGGM	GRCh37	22	32588900	32588900	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	73	32	.	.	ENST00000400237.1:c.545G>T	p.Arg182Leu	p.R182L	ENST00000400237		182	cGg/cTg	0	1		UPI0000133802	0	NA	ENST00000248983		ENSG00000128253	9979		105	1.65		HGNC	p.R92L		RFPL2		SNV							ENST00000400236	protein_coding	getma.org/?cm=var&var=hg19,22,32588900,C,A&fts=all		Pfam_domain:PF11002,PROSITE_profiles:PS50188,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,Superfamily_domains:SSF49899		R/L		A	low	523/1452		getma.org/?cm=msa&ty=f&p=RFPL2_HUMAN&rb=126&re=185&var=R182L						RFPL2,missense_variant,p.Arg92Leu,ENST00000400236,NM_001098527.2;RFPL2,missense_variant,p.Arg182Leu,ENST00000400237,;RFPL2,missense_variant,p.Arg121Leu,ENST00000248980,NM_006605.3;RFPL2,missense_variant,p.Arg92Leu,ENST00000248983,NM_001159545.1;RFPL2,non_coding_transcript_exon_variant,,ENST00000489846,;							MODERATE	275/867	R182L	RFPL2_HUMAN			Transcript		possibly_damaging(0.705)	.	ENSP00000248983		CCDS54521.1			1	
CARD8	0	LGGM	GRCh37	19	48737670	48737670	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	134	34	.	.	ENST00000391898.3:c.340G>A	p.Asp114Asn	p.D114N	ENST00000391898	NM_001184900.1	114	Gac/Aac	0	1	1	UPI000022A913	0	NA	ENST00000391898		ENSG00000105483	17057		168	0		HGNC	p.D64N		CARD8		SNV							ENST00000521613	protein_coding	getma.org/?cm=var&var=hg19,19,48737670,C,T&fts=all				D/N		T	neutral	383/5263		getma.org/?cm=msa&ty=f&p=E5RFI5_HUMAN&rb=1&re=114&var=D114N	tolerated(0.19)	E5RGG3_HUMAN,E5RFV9_HUMAN			YES	CARD8,missense_variant,p.Asp114Asn,ENST00000391898,NM_001184900.1;CARD8,missense_variant,p.Asp64Asn,ENST00000447740,NM_001184901.1;CARD8,missense_variant,p.Asp114Asn,ENST00000520753,NM_001184902.1;CARD8,missense_variant,p.Asp64Asn,ENST00000520153,NM_014959.3;CARD8,missense_variant,p.Asp114Asn,ENST00000519940,;CARD8,missense_variant,p.Asp114Asn,ENST00000520015,NM_001184903.1;CARD8,missense_variant,p.Asp64Asn,ENST00000521613,;CARD8,synonymous_variant,p.=,ENST00000359009,;CARD8,5_prime_UTR_variant,,ENST00000357778,;ZNF114,intron_variant,,ENST00000597695,;CARD8,downstream_gene_variant,,ENST00000522431,;CARD8,downstream_gene_variant,,ENST00000520007,;CARD8,downstream_gene_variant,,ENST00000521437,;CARD8,downstream_gene_variant,,ENST00000522889,;CARD8,downstream_gene_variant,,ENST00000519332,NM_001184904.1;CARD8,non_coding_transcript_exon_variant,,ENST00000523750,;CARD8,non_coding_transcript_exon_variant,,ENST00000517778,;CARD8,non_coding_transcript_exon_variant,,ENST00000522068,;CARD8,missense_variant,p.Asp64Asn,ENST00000518622,;CARD8,missense_variant,p.Asp64Asn,ENST00000518979,;CARD8,missense_variant,p.Asp114Asn,ENST00000522773,;CARD8,missense_variant,p.Asp114Asn,ENST00000519646,;CARD8,missense_variant,p.Asp64Asn,ENST00000517510,;CARD8,missense_variant,p.Asp114Asn,ENST00000521415,;CARD8,missense_variant,p.Asp64Asn,ENST00000519302,;CARD8,non_coding_transcript_exon_variant,,ENST00000522051,;CARD8,non_coding_transcript_exon_variant,,ENST00000518596,;CARD8,non_coding_transcript_exon_variant,,ENST00000521092,;CARD8,upstream_gene_variant,,ENST00000377461,;CARD8,upstream_gene_variant,,ENST00000523579,;CARD8,upstream_gene_variant,,ENST00000523668,;							MODERATE	340/1614	D114N	CARD8_HUMAN			Transcript		benign(0.346)	.	ENSP00000375767		CCDS54289.1			1	
NEK2	0	LGGM	GRCh37	1	211847024	211847024	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	51	37	.	.	ENST00000366999.4:c.356A>G	p.Gln119Arg	p.Q119R	ENST00000366999	NM_002497.3	119	cAg/cGg	0	1	1	UPI000012FF27	0	getma.org/pdb.php?prot=NEK2_HUMAN&from=8&to=271&var=Q119R	ENST00000366999		ENSG00000117650	7745		88	3.395		HGNC	p.Q76R		NEK2		SNV			1				ENST00000540251	protein_coding	getma.org/?cm=var&var=hg19,1,211847024,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/R		C	medium	495/2131		getma.org/?cm=msa&ty=f&p=NEK2_HUMAN&rb=8&re=271&var=Q119R	deleterious(0.03)	B4DZU0_HUMAN			YES	NEK2,missense_variant,p.Gln119Arg,ENST00000366999,NM_002497.3;NEK2,missense_variant,p.Gln119Arg,ENST00000366998,NM_001204183.1;NEK2,missense_variant,p.Gln76Arg,ENST00000540251,;RP11-122M14.1,upstream_gene_variant,,ENST00000415202,;NEK2,upstream_gene_variant,,ENST00000462283,;NEK2,upstream_gene_variant,,ENST00000489633,;							MODERATE	356/1338	Q119R	NEK2_HUMAN			Transcript		possibly_damaging(0.527)	.	ENSP00000355966		CCDS1500.1			1	
CHRM3	0	LGGM	GRCh37	1	240070919	240070919	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080196	H080196N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	63	41	.	.	ENST00000255380.4:c.168C>T	p.Thr56=	p.T56=	ENST00000255380	NM_000740.2	56	acC/acT	0	1	1	UPI0000050453	0		ENST00000255380		ENSG00000133019	1952	8.64E-05	104			HGNC	p.T56T	rs747990640,COSM906306	CHRM3		SNV			1			0,1	ENST00000255380	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF61,Superfamily_domains:SSF81321		T		T		947/8778				Q8NG01_HUMAN,B1AN12_HUMAN			YES	CHRM3,synonymous_variant,p.=,ENST00000255380,NM_000740.2;CHRM3,synonymous_variant,p.=,ENST00000448020,;					0,1		LOW	168/1773		ACM3_HUMAN			Transcript			.	ENSP00000255380	8.24E-06	CCDS1616.1			1	
VCAN	0	LGGM	GRCh37	5	82834430	82834430	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080196	H080196N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080196N.bam, H080196T.bam	Illumina HiSeq	109	42	.	.	ENST00000265077.3:c.5608T>C	p.Leu1870=	p.L1870=	ENST00000265077	NM_004385.4	1870	Ttg/Ctg	0	1	1	UPI000013178B	0		ENST00000265077		ENSG00000038427	2464		151			HGNC	p.L883L		VCAN		SNV			1				ENST00000513960	protein_coding			hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		L		C		6173/12625							YES	VCAN,synonymous_variant,p.=,ENST00000265077,NM_004385.4;VCAN,synonymous_variant,p.=,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,synonymous_variant,p.=,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							LOW	5608/10191		CSPG2_HUMAN			Transcript			.	ENSP00000265077		CCDS4060.1			1	
BSN	0	LGGM	GRCh37	3	49679907	49679907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	0	2	.	.	ENST00000296452.4:c.840G>T	p.Glu280Asp	p.E280D	ENST00000296452	NM_003458.3	280	gaG/gaT	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		2	1.1		HGNC	p.E280D		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49679907,G,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		E/D		T	low	954/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=227&re=426&var=E280D					YES	BSN,missense_variant,p.Glu280Asp,ENST00000296452,NM_003458.3;BSN-AS1,upstream_gene_variant,,ENST00000442384,;BSN,upstream_gene_variant,,ENST00000467456,;							MODERATE	840/11781	E280D	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
ARHGEF33	0	LGGM	GRCh37	2	39187173	39187173	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	7	2	.	.	ENST00000409978.1:c.1727C>A	p.Pro576Gln	p.P576Q	ENST00000409978		576	cCg/cAg	0	1	1	UPI000188157A	0	NA	ENST00000409978		ENSG00000214694	37252		9	0.55		HGNC	p.P576Q		ARHGEF33		SNV							ENST00000409978	protein_coding	getma.org/?cm=var&var=hg19,2,39187173,C,A&fts=all				P/Q		A	neutral	1992/4484		getma.org/?cm=msa&ty=f&p=ARG33_HUMAN&rb=439&re=638&var=P576Q	deleterious(0.01)				YES	ARHGEF33,missense_variant,p.Pro576Gln,ENST00000409978,;ARHGEF33,missense_variant,p.Pro576Gln,ENST00000398800,NM_001145451.2;ARHGEF33,missense_variant,p.Pro576Gln,ENST00000536934,;AC019171.1,missense_variant,p.Arg104Leu,ENST00000601251,;ARHGEF33,upstream_gene_variant,,ENST00000433605,;ARHGEF33,upstream_gene_variant,,ENST00000411874,;ARHGEF33,non_coding_transcript_exon_variant,,ENST00000483305,;ARHGEF33,upstream_gene_variant,,ENST00000430382,;ARHGEF33,intron_variant,,ENST00000486958,;							MODERATE	1727/2613	P576Q	ARG33_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000387020		CCDS46263.2			1	
LMX1A	0	LGGM	GRCh37	1	165175100	165175100	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	34	3	.	.	ENST00000342310.3:c.988+1G>T		p.X330_splice	ENST00000342310	NM_177398.3			0	1		UPI000012E793	0		ENST00000294816		ENSG00000162761	6653		37			HGNC	-		LMX1A		SNV							ENST00000342310	protein_coding							A		-/3350				Q6NZ39_HUMAN				LMX1A,splice_donor_variant,,ENST00000342310,NM_177398.3;LMX1A,splice_donor_variant,,ENST00000294816,NM_001174069.1;LMX1A,splice_donor_variant,,ENST00000367893,;RP11-38C18.2,upstream_gene_variant,,ENST00000457106,;LMX1A,splice_donor_variant,,ENST00000489443,;							HIGH	988/1149		LMX1A_HUMAN			Transcript			.	ENSP00000294816		CCDS1247.1			1	
ARHGEF19	0	LGGM	GRCh37	1	16532846	16532846	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	7	3	.	.	ENST00000270747.3:c.1138-11C>T		*380*	ENST00000270747	NM_153213.3			0	1	1	UPI0000074533	0		ENST00000270747		ENSG00000142632	26604		10			HGNC	p.A59V		ARHGEF19		SNV							ENST00000441785	protein_coding							A		-/3029							YES	ARHGEF19,missense_variant,p.Ala65Val,ENST00000449495,;ARHGEF19,missense_variant,p.Ala59Val,ENST00000441785,;ARHGEF19,intron_variant,,ENST00000270747,NM_153213.3;ARHGEF19,non_coding_transcript_exon_variant,,ENST00000478210,;ARHGEF19,intron_variant,,ENST00000478117,;ARHGEF19,intron_variant,,ENST00000471928,;							MODIFIER	-/2409		ARHGJ_HUMAN			Transcript			.	ENSP00000270747		CCDS170.1			1	
TP53	0	LGGM	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	19	3	.	.	ENST00000269305.4:c.614A>G	p.Tyr205Cys	p.Y205C	ENST00000269305	NM_001126112.2	205	tAt/tGt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y205C	ENST00000269305		ENSG00000141510	11998		22	2.99		HGNC	p.Y205C	TP53_g.12683A>G,COSM43947,COSM99633,COSM99630,COSM99631,COSM3378351,COSM1649393,COSM99632	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578235,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/C		C	medium	804/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y205C	deleterious(0)	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			YES	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,;					0,1,1,1,1,1,1,1		MODERATE	614/1182	Y205C	P53_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000269305		CCDS11118.1			1	
SYNE1	0	LGGM	GRCh37	6	152443711	152443711	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	32	3	.	.	ENST00000367255.5:c.26254C>A	p.Gln8752Lys	p.Q8752K	ENST00000367255	NM_182961.3	8752	Cag/Aag	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		35	3.14		HGNC	p.Q3276K		SYNE1		SNV			1				ENST00000356820	protein_coding	getma.org/?cm=var&var=hg19,6,152443711,G,T&fts=all		Pfam_domain:PF10541,PROSITE_profiles:PS51049,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Low_complexity_(Seg):seg		Q/K		T	medium	26856/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=8738&re=8797&var=Q8752K					YES	SYNE1,missense_variant,p.Gln8752Lys,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Gln8752Lys,ENST00000265368,;SYNE1,missense_variant,p.Gln8704Lys,ENST00000448038,;SYNE1,missense_variant,p.Gln8704Lys,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Gln8364Lys,ENST00000341594,;SYNE1,missense_variant,p.Gln3276Lys,ENST00000356820,;SYNE1,missense_variant,p.Gln907Lys,ENST00000539504,;SYNE1,missense_variant,p.Gln930Lys,ENST00000354674,;SYNE1,3_prime_UTR_variant,,ENST00000367251,;SYNE1,3_prime_UTR_variant,,ENST00000367257,;ESR1,intron_variant,,ENST00000427531,;SYNE1,non_coding_transcript_exon_variant,,ENST00000347037,;SYNE1,non_coding_transcript_exon_variant,,ENST00000460912,;SYNE1,downstream_gene_variant,,ENST00000536990,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000478916,;							MODERATE	26254/26394	Q8752K	SYNE1_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000356224		CCDS5236.2			1	
GALNT13	0	LGGM	GRCh37	2	155252623	155252623	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	34	3	.	.	ENST00000392825.3:c.1277G>T	p.Arg426Leu	p.R426L	ENST00000392825	NM_052917.2	426	cGt/cTt	0	1	1	UPI0000051E22	0	getma.org/pdb.php?prot=GLT13_HUMAN&from=303&to=428&var=R426L	ENST00000392825		ENSG00000144278	23242		37	0.08		HGNC	p.R426L		GALNT13		SNV							ENST00000409237	protein_coding	getma.org/?cm=var&var=hg19,2,155252623,G,T&fts=all		Superfamily_domains:SSF50370,Gene3D:2.80.10.50,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21		R/L		T	neutral	1844/5536		getma.org/?cm=msa&ty=f&p=GLT13_HUMAN&rb=303&re=428&var=R426L	tolerated(0.06)	Q68VI8_HUMAN			YES	GALNT13,missense_variant,p.Arg426Leu,ENST00000392825,NM_052917.2;GALNT13,missense_variant,p.Arg426Leu,ENST00000409237,;GALNT13,missense_variant,p.Arg45Leu,ENST00000450838,;GALNT13,non_coding_transcript_exon_variant,,ENST00000487047,;GALNT13,3_prime_UTR_variant,,ENST00000431076,;							MODERATE	1277/1671	R426L	GLT13_HUMAN			Transcript		benign(0.003)	.	ENSP00000376570		CCDS2199.1			1	
PABPC5	0	LGGM	GRCh37	X	90691565	90691565	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	42	3	.	.	ENST00000312600.3:c.989G>T	p.Arg330Leu	p.R330L	ENST00000312600	NM_080832.2	330	cGg/cTg	0	1	1	UPI0000087790	0	getma.org/pdb.php?prot=PABP5_HUMAN&from=304&to=372&var=R330L	ENST00000312600		ENSG00000174740	13629		45	1.14		HGNC	p.R330L	COSM1126351	PABPC5		SNV						1	ENST00000312600	protein_coding	getma.org/?cm=var&var=hg19,X,90691565,G,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		R/L		T	low	1203/3221		getma.org/?cm=msa&ty=f&p=PABP5_HUMAN&rb=304&re=372&var=R330L	deleterious(0)	Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,missense_variant,p.Arg330Leu,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Arg166Leu,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;					1		MODERATE	989/1149	R330L	PABP5_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000308012		CCDS14460.1			1	
FLII	0	LGGM	GRCh37	17	18155447	18155447	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	24	3	.	.	ENST00000327031.4:c.1112G>T	p.Arg371Leu	p.R371L	ENST00000327031	NM_002018.3	371	cGg/cTg	0	1	1	UPI0000001284	0	NA	ENST00000327031		ENSG00000177731	3750		27	2.485		HGNC	p.R286L	rs763215269	FLII		SNV			1				ENST00000379450	protein_coding	getma.org/?cm=var&var=hg19,17,18155447,C,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF16,Superfamily_domains:SSF52058		R/L		A	medium	1338/4338		getma.org/?cm=msa&ty=f&p=FLII_HUMAN&rb=357&re=507&var=R371L	deleterious(0.02)	K7EP37_HUMAN,K7EP27_HUMAN			YES	FLII,missense_variant,p.Arg371Leu,ENST00000327031,NM_002018.3;FLII,missense_variant,p.Arg317Leu,ENST00000545457,NM_001256265.1;FLII,missense_variant,p.Arg286Leu,ENST00000379450,;FLII,missense_variant,p.Arg360Leu,ENST00000579294,NM_001256264.1;FLII,missense_variant,p.Arg371Leu,ENST00000578558,;FLII,missense_variant,p.Arg254Leu,ENST00000488932,;FLII,intron_variant,,ENST00000577485,;FLII,downstream_gene_variant,,ENST00000473425,;FLII,downstream_gene_variant,,ENST00000581349,;FLII,downstream_gene_variant,,ENST00000584444,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,non_coding_transcript_exon_variant,,ENST00000461110,;FLII,non_coding_transcript_exon_variant,,ENST00000488221,;FLII,downstream_gene_variant,,ENST00000478416,;FLII,upstream_gene_variant,,ENST00000496727,;FLII,upstream_gene_variant,,ENST00000459958,;FLII,upstream_gene_variant,,ENST00000577402,;FLII,downstream_gene_variant,,ENST00000582626,;FLII,downstream_gene_variant,,ENST00000577626,;FLII,downstream_gene_variant,,ENST00000581401,;	0.000116						MODERATE	1112/3810	R371L	FLII_HUMAN			Transcript		possibly_damaging(0.719)	.	ENSP00000324573	8.24E-06	CCDS11192.1			1	
CBR3	0	LGGM	GRCh37	21	37518757	37518757	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	40	3	.	.	ENST00000290354.5:c.781G>T	p.Ala261Ser	p.A261S	ENST00000290354	NM_001236.3	261	Gcc/Tcc	0	1	1	UPI000004C785	0	getma.org/pdb.php?prot=CBR3_HUMAN&from=152&to=277&var=A261S	ENST00000290354		ENSG00000159231	1549		43	0.695		HGNC	p.A261S		CBR3		SNV							ENST00000290354	protein_coding	getma.org/?cm=var&var=hg19,21,37518757,G,T&fts=all		hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF263,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		A/S		T	neutral	1062/1169		getma.org/?cm=msa&ty=f&p=CBR3_HUMAN&rb=152&re=277&var=A261S	tolerated(0.15)				YES	CBR3,missense_variant,p.Ala261Ser,ENST00000290354,NM_001236.3;CBR3-AS1,intron_variant,,ENST00000413862,;CBR3-AS1,intron_variant,,ENST00000453159,;CBR3-AS1,intron_variant,,ENST00000608641,;CBR3-AS1,intron_variant,,ENST00000427491,;CBR3-AS1,intron_variant,,ENST00000608632,;CBR3-AS1,intron_variant,,ENST00000608690,;CBR3-AS1,intron_variant,,ENST00000608622,;CBR3-AS1,non_coding_transcript_exon_variant,,ENST00000432988,;							MODERATE	781/834	A261S	CBR3_HUMAN			Transcript		benign(0.045)	.	ENSP00000290354		CCDS13642.1			1	
INTS5	0	LGGM	GRCh37	11	62415908	62415908	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	24	3	.	.	ENST00000330574.2:c.1644C>A	p.Gly548=	p.G548=	ENST00000330574	NM_030628.1	548	ggC/ggA	0	1	1	UPI0000161948	0		ENST00000330574		ENSG00000185085	29352		27			HGNC	p.G548G		INTS5		SNV							ENST00000330574	protein_coding			Pfam_domain:PF14838,hmmpanther:PTHR31697,hmmpanther:PTHR31697:SF2,Low_complexity_(Seg):seg		G		T		1697/3285							YES	INTS5,synonymous_variant,p.=,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,;							LOW	1644/3060		INT5_HUMAN			Transcript			.	ENSP00000327889		CCDS8027.1			1	
OTUD7A	0	LGGM	GRCh37	15	31822934	31822934	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080204	H080204N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	45	3	.	.	ENST00000307050.4:c.628T>A	p.Cys210Ser	p.C210S	ENST00000307050	NM_130901.1	210	Tgc/Agc	0	1	1	UPI0000073AA5	0	getma.org/pdb.php?prot=OTU7A_HUMAN&from=205&to=368&var=C210S	ENST00000307050		ENSG00000169918	20718		48	2.555		HGNC	p.C210S		OTUD7A		SNV							ENST00000307050	protein_coding	getma.org/?cm=var&var=hg19,15,31822934,A,T&fts=all		PROSITE_profiles:PS50802,hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367,Pfam_domain:PF02338		C/S		T	medium	721/3042		getma.org/?cm=msa&ty=f&p=OTU7A_HUMAN&rb=205&re=368&var=C210S	deleterious(0)	H0YN66_HUMAN			YES	OTUD7A,missense_variant,p.Cys210Ser,ENST00000382902,;OTUD7A,missense_variant,p.Cys210Ser,ENST00000307050,NM_130901.1;							MODERATE	628/2781	C210S	OTU7A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000305926		CCDS10026.1			1	
ZBTB37	0	LGGM	GRCh37	1	173839676	173839676	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	46	3	.	.	ENST00000367701.5:c.313G>T	p.Ala105Ser	p.A105S	ENST00000367701		105	Gct/Tct	0	1	1	UPI0000203C09	0	getma.org/pdb.php?prot=ZBT37_HUMAN&from=22&to=126&var=A105S	ENST00000367701		ENSG00000185278	28365		49	3.18		HGNC	p.A105S		ZBTB37		SNV							ENST00000490000	protein_coding	getma.org/?cm=var&var=hg19,1,173839676,G,T&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF2,SMART_domains:SM00225,Superfamily_domains:SSF54695		A/S		T	medium	504/19128		getma.org/?cm=msa&ty=f&p=ZBT37_HUMAN&rb=22&re=126&var=A105S	deleterious(0.01)				YES	ZBTB37,missense_variant,p.Ala105Ser,ENST00000367701,;ZBTB37,missense_variant,p.Ala105Ser,ENST00000367704,;ZBTB37,missense_variant,p.Ala105Ser,ENST00000427304,NM_001122770.1;ZBTB37,missense_variant,p.Ala105Ser,ENST00000432989,NM_032522.3;ZBTB37,missense_variant,p.Ala105Ser,ENST00000367702,;GAS5,upstream_gene_variant,,ENST00000432536,;GAS5,upstream_gene_variant,,ENST00000451607,;GAS5,upstream_gene_variant,,ENST00000430245,;GAS5,upstream_gene_variant,,ENST00000454068,;GAS5,upstream_gene_variant,,ENST00000450589,;GAS5,upstream_gene_variant,,ENST00000448718,;GAS5,upstream_gene_variant,,ENST00000449289,;GAS5,upstream_gene_variant,,ENST00000452197,;GAS5,upstream_gene_variant,,ENST00000414075,;GAS5,upstream_gene_variant,,ENST00000425771,;GAS5,upstream_gene_variant,,ENST00000363146,NR_003942.1;GAS5,upstream_gene_variant,,ENST00000364084,NR_002579.1;GAS5,upstream_gene_variant,,ENST00000385578,NR_003943.1;SNORD78,upstream_gene_variant,,ENST00000385582,NR_003944.1;GAS5,upstream_gene_variant,,ENST00000431268,;GAS5,upstream_gene_variant,,ENST00000442067,;GAS5,upstream_gene_variant,,ENST00000421068,;GAS5,upstream_gene_variant,,ENST00000412059,;GAS5,upstream_gene_variant,,ENST00000443799,;GAS5,upstream_gene_variant,,ENST00000436656,;GAS5,upstream_gene_variant,,ENST00000416952,;GAS5,upstream_gene_variant,,ENST00000436285,;GAS5,upstream_gene_variant,,ENST00000422183,;GAS5,upstream_gene_variant,,ENST00000456812,;GAS5,upstream_gene_variant,,ENST00000449589,;GAS5,upstream_gene_variant,,ENST00000455838,;GAS5,upstream_gene_variant,,ENST00000456293,;GAS5,upstream_gene_variant,,ENST00000422008,;GAS5,upstream_gene_variant,,ENST00000458220,;							MODERATE	313/1512	A105S	ZBT37_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000356674		CCDS44278.1			1	
METTL13	0	LGGM	GRCh37	1	171753496	171753496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	17	3	.	.	ENST00000361735.3:c.770G>T	p.Ser257Ile	p.S257I	ENST00000361735	NM_015935.4	257	aGc/aTc	0	1	1	UPI000006DE3D	0	NA	ENST00000361735		ENSG00000010165	24248		20	1.525		HGNC	p.S256I		METTL13		SNV							ENST00000458517	protein_coding	getma.org/?cm=var&var=hg19,1,171753496,G,T&fts=all		hmmpanther:PTHR12176,hmmpanther:PTHR12176:SF13		S/I		T	low	1036/3327		getma.org/?cm=msa&ty=f&p=MET13_HUMAN&rb=201&re=400&var=S257I	deleterious(0.01)	C4B4C6_HUMAN			YES	METTL13,missense_variant,p.Ser257Ile,ENST00000361735,NM_015935.4;METTL13,missense_variant,p.Ser171Ile,ENST00000362019,NM_014955.2;METTL13,missense_variant,p.Ser256Ile,ENST00000458517,;METTL13,intron_variant,,ENST00000367737,NM_001007239.1;METTL13,intron_variant,,ENST00000485629,;METTL13,upstream_gene_variant,,ENST00000466643,;METTL13,upstream_gene_variant,,ENST00000478330,;							MODERATE	770/2100	S257I	MET13_HUMAN			Transcript		benign(0.281)	.	ENSP00000354920		CCDS1299.1			1	
MUC5B	0	LGGM	GRCh37	11	1263488	1263488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	29	3	.	.	ENST00000529681.1:c.5378G>T	p.Trp1793Leu	p.W1793L	ENST00000529681	NM_002458.2	1793	tGg/tTg	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		32	3.73		HGNC	p.W1793L		MUC5B		SNV			1				ENST00000529681	protein_coding	getma.org/?cm=var&var=hg19,11,1263488,G,T&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,Pfam_domain:PF13330		W/L		T	high	5436/17911		getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=1789&re=1879&var=W1793L		Q93043_HUMAN			YES	MUC5B,missense_variant,p.Trp1796Leu,ENST00000447027,;MUC5B,missense_variant,p.Trp1793Leu,ENST00000529681,NM_002458.2;RP11-532E4.2,downstream_gene_variant,,ENST00000532061,;MUC5B,downstream_gene_variant,,ENST00000525715,;							MODERATE	5378/17289	W1793L	MUC5B_HUMAN			Transcript		unknown(0)	.	ENSP00000436812		CCDS44515.2			1	
LIF	0	LGGM	GRCh37	22	30639819	30639819	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	22	3	.	.	ENST00000249075.3:c.430C>A	p.Leu144Met	p.L144M	ENST00000249075	NM_002309.4	144	Ctg/Atg	0	1	1	UPI000002C08D	0	getma.org/pdb.php?prot=LIF_HUMAN&from=43&to=202&var=L144M	ENST00000249075		ENSG00000128342	6596		25	-0.315		HGNC	p.P84H		LIF		SNV							ENST00000403987	protein_coding	getma.org/?cm=var&var=hg19,22,30639819,G,T&fts=all		Gene3D:1.20.1250.10,Pfam_domain:PF01291,Prints_domain:PR01883,hmmpanther:PTHR10633,SMART_domains:SM00080,Superfamily_domains:SSF47266		L/M		T	neutral	586/3969		getma.org/?cm=msa&ty=f&p=LIF_HUMAN&rb=43&re=202&var=L144M	tolerated(0.46)				YES	LIF,missense_variant,p.Leu144Met,ENST00000249075,NM_002309.4;LIF,missense_variant,p.Pro84His,ENST00000403987,NM_001257135.1;RP1-102K2.6,downstream_gene_variant,,ENST00000447565,;RP1-102K2.8,upstream_gene_variant,,ENST00000608354,;RP1-102K2.8,upstream_gene_variant,,ENST00000593843,;							MODERATE	430/609	L144M	LIF_HUMAN			Transcript		benign(0.286)	.	ENSP00000249075		CCDS13872.1			1	
ZNF41	0	LGGM	GRCh37	X	47308211	47308211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	44	3	.	.	ENST00000377065.4:c.958G>T	p.Val320Phe	p.V320F	ENST00000377065	NM_153380.2	320	Gtt/Ttt	0	1	1	UPI0000001C0E	0	getma.org/pdb.php?prot=ZNF41_HUMAN&from=357&to=379&var=V362F	ENST00000377065		ENSG00000147124	13107		47	1.515		HGNC	p.V330F		ZNF41		SNV			1				ENST00000397050	protein_coding	getma.org/?cm=var&var=hg19,X,47308211,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF82,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		V/F		A	low	1598/4531		getma.org/?cm=msa&ty=f&p=ZNF41_HUMAN&rb=337&re=399&var=V362F	deleterious(0.03)				YES	ZNF41,missense_variant,p.Val320Phe,ENST00000377065,NM_153380.2;ZNF41,missense_variant,p.Val330Phe,ENST00000397050,NM_007130.2;ZNF41,missense_variant,p.Val320Phe,ENST00000313116,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;							MODERATE	958/2340	V362F	ZNF41_HUMAN			Transcript		benign(0.409)	.	ENSP00000366265		CCDS14279.1			1	
SMC6	0	LGGM	GRCh37	2	17847730	17847730	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	35	3	.	.	ENST00000448223.2:c.3118C>A	p.Gln1040Lys	p.Q1040K	ENST00000448223	NM_001142286.1	1040	Cag/Aag	0	1		UPI0000073C3B	0	getma.org/pdb.php?prot=SMC6_HUMAN&from=47&to=1071&var=Q1040K	ENST00000351948		ENSG00000163029	20466		38	1.455		HGNC	p.Q1040K		SMC6		SNV							ENST00000402989	protein_coding	getma.org/?cm=var&var=hg19,2,17847730,G,T&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF02463,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF2		Q/K		T	low	3328/5173		getma.org/?cm=msa&ty=f&p=SMC6_HUMAN&rb=47&re=1071&var=Q1040K	deleterious(0.01)	C9JEF0_HUMAN				SMC6,missense_variant,p.Gln1040Lys,ENST00000448223,NM_001142286.1;SMC6,missense_variant,p.Gln1040Lys,ENST00000351948,NM_024624.5;SMC6,missense_variant,p.Gln1040Lys,ENST00000402989,;SMC6,missense_variant,p.Gln1066Lys,ENST00000381272,;SMC6,non_coding_transcript_exon_variant,,ENST00000481708,;							MODERATE	3118/3276	Q1040K	SMC6_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000323439		CCDS1690.1			1	
MLC1	0	LGGM	GRCh37	22	50502467	50502467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	10	3	.	.	ENST00000311597.5:c.1055G>T	p.Gly352Val	p.G352V	ENST00000311597	NM_015166.3	352	gGg/gTg	0	1	1	UPI000004AD09	0	NA	ENST00000311597		ENSG00000100427	17082		13	1.7		HGNC	p.G273V		MLC1		SNV			1				ENST00000535444	protein_coding	getma.org/?cm=var&var=hg19,22,50502467,C,A&fts=all		hmmpanther:PTHR17597		G/V		A	low	1662/3933		getma.org/?cm=msa&ty=f&p=MLC1_HUMAN&rb=1&re=375&var=G352V	tolerated_low_confidence(0.23)	B7Z2T9_HUMAN			YES	MLC1,missense_variant,p.Gly352Val,ENST00000311597,NM_015166.3;MLC1,missense_variant,p.Gly352Val,ENST00000395876,NM_139202.2;MLC1,missense_variant,p.Gly318Val,ENST00000538737,;MLC1,missense_variant,p.Gly322Val,ENST00000431262,;MLC1,missense_variant,p.Gly273Val,ENST00000535444,;MLC1,missense_variant,p.Gly300Val,ENST00000450140,;MLC1,non_coding_transcript_exon_variant,,ENST00000483836,;							MODERATE	1055/1134	G352V	MLC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310375		CCDS14083.1			1	
SCLY	0	LGGM	GRCh37	2	238990789	238990789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	42	3	.	.	ENST00000254663.6:c.740G>T	p.Gly247Val	p.G247V	ENST00000254663	NM_016510.5	247	gGg/gTg	0	1	1	UPI0000EE3842	0	getma.org/pdb.php?prot=SCLY_HUMAN&from=32&to=430&var=G239V	ENST00000254663		ENSG00000132330	18161		45	4.005		HGNC	p.G239V		SCLY		SNV							ENST00000555827	protein_coding	getma.org/?cm=var&var=hg19,2,238990789,G,T&fts=all		hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383		G/V		T	high	882/2562		getma.org/?cm=msa&ty=f&p=SCLY_HUMAN&rb=32&re=430&var=G239V	deleterious(0)	B4DDP9_HUMAN			YES	SCLY,stop_gained,p.Gly17Ter,ENST00000440143,;SCLY,missense_variant,p.Gly247Val,ENST00000254663,NM_016510.5;SCLY,missense_variant,p.Gly239Val,ENST00000555827,;SCLY,missense_variant,p.Gly69Val,ENST00000450965,;SCLY,missense_variant,p.Gly239Val,ENST00000409736,;SCLY,missense_variant,p.Gly145Val,ENST00000422984,;SCLY,missense_variant,p.Gly157Val,ENST00000373332,;SCLY,missense_variant,p.Gly83Val,ENST00000437134,;SCLY,missense_variant,p.Gly85Val,ENST00000431487,;SCLY,missense_variant,p.Gly153Val,ENST00000413463,;SCLY,intron_variant,,ENST00000429612,;SCLY,intron_variant,,ENST00000412508,;SCLY,upstream_gene_variant,,ENST00000433750,;SCLY,downstream_gene_variant,,ENST00000480859,;UBE2F-SCLY,3_prime_UTR_variant,,ENST00000449891,;SCLY,3_prime_UTR_variant,,ENST00000443532,;SCLY,3_prime_UTR_variant,,ENST00000423324,;SCLY,non_coding_transcript_exon_variant,,ENST00000480357,;SCLY,non_coding_transcript_exon_variant,,ENST00000497951,;SCLY,non_coding_transcript_exon_variant,,ENST00000482031,;SCLY,downstream_gene_variant,,ENST00000446202,;							MODERATE	740/1362	G239V	SCLY_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254663		CCDS2524.2			1	
PHF7	0	LGGM	GRCh37	3	52457262	52457262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	36	3	.	.	ENST00000327906.3:c.1075C>A	p.Arg359Ser	p.R359S	ENST00000327906	NM_016483.5	359	Cgt/Agt	0	1	1	UPI000007190E	0	NA	ENST00000327906		ENSG00000010318	18458		39	-0.345		HGNC	p.R320S		PHF7		SNV							ENST00000347025	protein_coding	getma.org/?cm=var&var=hg19,3,52457262,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12420:SF11,hmmpanther:PTHR12420		R/S		A	neutral	1735/2130		getma.org/?cm=msa&ty=f&p=PHF7_HUMAN&rb=346&re=381&var=R359S	tolerated_low_confidence(0.31)	C9J4W0_HUMAN			YES	PHF7,missense_variant,p.Arg359Ser,ENST00000327906,NM_016483.5;PHF7,missense_variant,p.Arg320Ser,ENST00000347025,NM_001278221.1;PHF7,missense_variant,p.Arg304Ser,ENST00000461861,;PHF7,3_prime_UTR_variant,,ENST00000465863,;PHF7,downstream_gene_variant,,ENST00000472337,;PHF7,non_coding_transcript_exon_variant,,ENST00000498509,;PHF7,downstream_gene_variant,,ENST00000459935,;							MODERATE	1075/1146	R359S	PHF7_HUMAN			Transcript		benign(0.001)	.	ENSP00000333024		CCDS2854.1			1	
CAB39	0	LGGM	GRCh37	2	231655736	231655736	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	38	3	.	.	ENST00000258418.5:c.264G>T	p.Gln88His	p.Q88H	ENST00000258418	NM_016289.3	88	caG/caT	0	1	1	UPI000003622D	0	getma.org/pdb.php?prot=CAB39_HUMAN&from=1&to=335&var=Q88H	ENST00000258418		ENSG00000135932	20292		41	-0.295		HGNC	p.Q88H		CAB39		SNV							ENST00000409788	protein_coding	getma.org/?cm=var&var=hg19,2,231655736,G,T&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF08569,hmmpanther:PTHR10182,hmmpanther:PTHR10182:SF11,Superfamily_domains:SSF48371		Q/H		T	neutral	693/3826		getma.org/?cm=msa&ty=f&p=CAB39_HUMAN&rb=1&re=335&var=Q88H	tolerated(0.38)	Q53RN7_HUMAN,A8K8L7_HUMAN			YES	CAB39,missense_variant,p.Gln88His,ENST00000258418,NM_016289.3;CAB39,missense_variant,p.Gln88His,ENST00000409788,NM_001130849.1;CAB39,missense_variant,p.Gln88His,ENST00000410084,NM_001130850.1;CAB39,downstream_gene_variant,,ENST00000484398,;CAB39,non_coding_transcript_exon_variant,,ENST00000478152,;							MODERATE	264/1026	Q88H	CAB39_HUMAN			Transcript		benign(0.002)	.	ENSP00000258418		CCDS2478.1			1	
PMCH	0	LGGM	GRCh37	12	102591409	102591409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	47	3	.	.	ENST00000329406.4:c.140G>T	p.Gly47Val	p.G47V	ENST00000329406	NM_002674.2	47	gGc/gTc	0	1	1	UPI000006D1DF	0	NA	ENST00000329406		ENSG00000183395	9109		50	0		HGNC	p.G47V		PMCH		SNV							ENST00000329406	protein_coding	getma.org/?cm=var&var=hg19,12,102591409,C,A&fts=all		hmmpanther:PTHR12091,hmmpanther:PTHR12091:SF0		G/V		A	neutral	215/766		getma.org/?cm=msa&ty=f&p=MCH_HUMAN&rb=1&re=79&var=G47V	tolerated(0.64)				YES	PMCH,missense_variant,p.Gly47Val,ENST00000329406,NM_002674.2;PARPBP,downstream_gene_variant,,ENST00000327680,NM_017915.3;PARPBP,downstream_gene_variant,,ENST00000378128,;PARPBP,downstream_gene_variant,,ENST00000541394,;PARPBP,downstream_gene_variant,,ENST00000417507,;PARPBP,downstream_gene_variant,,ENST00000412715,;PARPBP,downstream_gene_variant,,ENST00000358383,;PARPBP,downstream_gene_variant,,ENST00000392911,;PARPBP,downstream_gene_variant,,ENST00000543784,;PARPBP,downstream_gene_variant,,ENST00000535811,;PARPBP,downstream_gene_variant,,ENST00000457614,;							MODERATE	140/498	G47V	MCH_HUMAN			Transcript		benign(0.001)	.	ENSP00000332225		CCDS31885.1			1	
PAM	0	LGGM	GRCh37	5	102326024	102326024	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	30	3	.	.	ENST00000304400.7:c.1532C>A	p.Pro511Gln	p.P511Q	ENST00000304400		511	cCa/cAa	0	1		UPI0000001BB7	0	getma.org/pdb.php?prot=AMD_HUMAN&from=346&to=545&var=P511Q	ENST00000438793		ENSG00000145730	8596		33	1.5		HGNC	p.P404Q		PAM		SNV							ENST00000348126	protein_coding	getma.org/?cm=var&var=hg19,5,102326024,C,A&fts=all		Superfamily_domains:SSF101898,hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13		P/Q		A	low	2002/5432		getma.org/?cm=msa&ty=f&p=AMD_HUMAN&rb=346&re=545&var=P511Q	tolerated(0.14)	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN				PAM,missense_variant,p.Pro511Gln,ENST00000438793,NM_001177306.1,NM_000919.3,NM_138766.2;PAM,missense_variant,p.Pro404Gln,ENST00000348126,NM_138821.2;PAM,missense_variant,p.Pro414Gln,ENST00000274392,;PAM,missense_variant,p.Pro511Gln,ENST00000346918,NM_138822.2;PAM,missense_variant,p.Pro511Gln,ENST00000304400,;PAM,missense_variant,p.Pro511Gln,ENST00000455264,;PAM,missense_variant,p.Pro284Gln,ENST00000379799,;PAM,5_prime_UTR_variant,,ENST00000379787,;PAM,3_prime_UTR_variant,,ENST00000345721,;PAM,non_coding_transcript_exon_variant,,ENST00000511429,;							MODERATE	1532/2922	P511Q	AMD_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000396493		CCDS54885.1			1	
PRDM1	0	LGGM	GRCh37	6	106543496	106543496	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	34	3	.	.	ENST00000369096.4:c.298G>T	p.Gly100Ter	p.G100*	ENST00000369096	NM_001198.3	100	Gga/Tga	0	1	1	UPI0000D49069	0	NA	ENST00000369096		ENSG00000057657	9346		37	0		HGNC	p.G100X		PRDM1		SNV							ENST00000369096	protein_coding	getma.org/?cm=var&var=hg19,6,106543496,G,T&fts=all		Gene3D:2.170.270.10,Pfam_domain:PF00856,PIRSF_domain:PIRSF013212,PROSITE_profiles:PS50280,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF339,SMART_domains:SM00317,Superfamily_domains:SSF82199		G/*		T	NA	532/5164		NA		Q5T4E8_HUMAN,B2REA5_HUMAN			YES	PRDM1,stop_gained,p.Gly100Ter,ENST00000369096,NM_001198.3;PRDM1,stop_gained,p.Gly64Ter,ENST00000369091,;PRDM1,upstream_gene_variant,,ENST00000369089,NM_182907.2;PRDM1,upstream_gene_variant,,ENST00000450060,;PRDM1,downstream_gene_variant,,ENST00000424894,;RP1-134E15.3,upstream_gene_variant,,ENST00000602426,;PRDM1,non_coding_transcript_exon_variant,,ENST00000489365,;PRDM1,upstream_gene_variant,,ENST00000481163,;							HIGH	298/2478	G100*	PRDM1_HUMAN			Transcript			.	ENSP00000358092		CCDS5054.2			1	
PKN3	0	LGGM	GRCh37	9	131476886	131476886	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	27	3	.	.	ENST00000291906.4:c.1527C>A	p.Pro509=	p.P509=	ENST00000291906	NM_013355.3	509	ccC/ccA	0	1	1	UPI000013E087	0		ENST00000291906		ENSG00000160447	17999		30			HGNC	p.P509P		PKN3		SNV							ENST00000291906	protein_coding			hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357,Low_complexity_(Seg):seg		P		A		1920/3375				Q05BU1_HUMAN			YES	PKN3,synonymous_variant,p.=,ENST00000291906,NM_013355.3;RN7SL560P,downstream_gene_variant,,ENST00000577943,;PKN3,non_coding_transcript_exon_variant,,ENST00000485301,;PKN3,intron_variant,,ENST00000483521,;							LOW	1527/2670		PKN3_HUMAN			Transcript			.	ENSP00000291906		CCDS6908.1			1	
SYK	0	LGGM	GRCh37	9	93624587	93624587	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	17	3	.	.	ENST00000375746.1:c.678C>A	p.Leu226=	p.L226=	ENST00000375746	NM_001174167.1	226	ctC/ctA	0	1		UPI000012E0DD	0		ENST00000375746		ENSG00000165025	11491		20			HGNC	p.L226L		SYK		SNV							ENST00000375747	protein_coding			Superfamily_domains:SSF55550,PIRSF_domain:PIRSF000604,SMART_domains:SM00252,Gene3D:3.30.505.10,Pfam_domain:PF00017,hmmpanther:PTHR24418:SF79,hmmpanther:PTHR24418,PROSITE_profiles:PS50001		L		A		811/4990								SYK,synonymous_variant,p.=,ENST00000375754,NM_003177.5;SYK,synonymous_variant,p.=,ENST00000375746,NM_001174167.1;SYK,synonymous_variant,p.=,ENST00000375751,NM_001135052.2;SYK,synonymous_variant,p.=,ENST00000375747,NM_001174168.1;							LOW	678/1908		KSYK_HUMAN			Transcript			.	ENSP00000364898		CCDS6688.1			1	
ADORA2B	0	LGGM	GRCh37	17	15878651	15878651	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	36	3	.	.	ENST00000304222.2:c.994C>A	p.Leu332Ile	p.L332I	ENST00000304222	NM_000676.2	332	Cta/Ata	0	1	1	UPI00000503E3	0	NA	ENST00000304222		ENSG00000170425	264		39	0		HGNC	p.L332I		ADORA2B		SNV							ENST00000304222	protein_coding	getma.org/?cm=var&var=hg19,17,15878651,C,A&fts=all				L/I		A	neutral	1326/1735		getma.org/?cm=msa&ty=f&p=AA2BR_HUMAN&rb=291&re=332&var=L332I	deleterious_low_confidence(0)	Q2L7J7_HUMAN			YES	ADORA2B,missense_variant,p.Leu332Ile,ENST00000304222,NM_000676.2;ZSWIM7,downstream_gene_variant,,ENST00000399277,NM_001042697.1,NM_001042698.1;ZSWIM7,downstream_gene_variant,,ENST00000486655,;ZSWIM7,downstream_gene_variant,,ENST00000472495,;ZSWIM7,downstream_gene_variant,,ENST00000399280,;ZSWIM7,downstream_gene_variant,,ENST00000497434,;ZSWIM7,downstream_gene_variant,,ENST00000497719,;ZSWIM7,downstream_gene_variant,,ENST00000495825,;ZSWIM7,downstream_gene_variant,,ENST00000475498,;ADORA2B,non_coding_transcript_exon_variant,,ENST00000582124,;ZSWIM7,downstream_gene_variant,,ENST00000490395,;ZSWIM7,downstream_gene_variant,,ENST00000585208,;ZSWIM7,downstream_gene_variant,,ENST00000476496,;ZSWIM7,downstream_gene_variant,,ENST00000486706,;ZSWIM7,downstream_gene_variant,,ENST00000491631,;ZSWIM7,downstream_gene_variant,,ENST00000460315,;ZSWIM7,downstream_gene_variant,,ENST00000460252,;ZSWIM7,downstream_gene_variant,,ENST00000584519,;ZSWIM7,downstream_gene_variant,,ENST00000474716,;ZSWIM7,downstream_gene_variant,,ENST00000579955,;							MODERATE	994/999	L332I	AA2BR_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000304501		CCDS11173.1			1	
TRAF1	0	LGGM	GRCh37	9	123676572	123676572	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	15	3	.	.	ENST00000373887.3:c.235C>A	p.Pro79Thr	p.P79T	ENST00000373887	NM_005658.4	79	Ccc/Acc	0	1	1	UPI0000001079	0	NA	ENST00000373887		ENSG00000056558	12031		18	1.39		HGNC	p.P79T		TRAF1		SNV							ENST00000373887	protein_coding	getma.org/?cm=var&var=hg19,9,123676572,G,T&fts=all		PIRSF_domain:PIRSF015614,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF29		P/T		T	low	2681/6324		getma.org/?cm=msa&ty=f&p=TRAF1_HUMAN&rb=1&re=200&var=P79T	tolerated(0.41)				YES	TRAF1,missense_variant,p.Pro79Thr,ENST00000373887,NM_005658.4;TRAF1,missense_variant,p.Pro79Thr,ENST00000540010,NM_001190945.1;TRAF1,5_prime_UTR_variant,,ENST00000546084,NM_001190947.1;							MODERATE	235/1251	P79T	TRAF1_HUMAN			Transcript		benign(0.013)	.	ENSP00000362994		CCDS6825.1			1	
NAB1	0	LGGM	GRCh37	2	191524017	191524017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	46	3	.	.	ENST00000337386.5:c.115C>A	p.Gln39Lys	p.Q39K	ENST00000337386	NM_005966.3	39	Cag/Aag	0	1	1	UPI0000001C43	0	NA	ENST00000337386		ENSG00000138386	7626		49	2.39		HGNC	p.Q39K		NAB1		SNV							ENST00000409641	protein_coding	getma.org/?cm=var&var=hg19,2,191524017,C,A&fts=all		Pfam_domain:PF04904,hmmpanther:PTHR12623,hmmpanther:PTHR12623:SF9		Q/K		A	medium	576/4358		getma.org/?cm=msa&ty=f&p=NAB1_HUMAN&rb=3&re=84&var=Q39K	deleterious(0.01)	C9JL92_HUMAN,C9JJ42_HUMAN,C9JID4_HUMAN,C9JFF6_HUMAN,C9J3V0_HUMAN			YES	NAB1,missense_variant,p.Gln39Lys,ENST00000337386,NM_005966.3;NAB1,missense_variant,p.Gln39Lys,ENST00000409641,;NAB1,missense_variant,p.Gln39Lys,ENST00000409581,;NAB1,missense_variant,p.Gln39Lys,ENST00000357215,;NAB1,missense_variant,p.Gln39Lys,ENST00000448811,;NAB1,missense_variant,p.Gln39Lys,ENST00000416973,;NAB1,missense_variant,p.Gln39Lys,ENST00000426601,;NAB1,missense_variant,p.Gln39Lys,ENST00000423376,;NAB1,5_prime_UTR_variant,,ENST00000423076,;NAB1,upstream_gene_variant,,ENST00000545490,;NAB1,upstream_gene_variant,,ENST00000434473,;NAB1,upstream_gene_variant,,ENST00000484774,;							MODERATE	115/1464	Q39K	NAB1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000336894		CCDS2307.1			1	
ARPC2	0	LGGM	GRCh37	2	219114545	219114545	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	8	3	.	.	ENST00000295685.10:c.779C>A	p.Ala260Asp	p.A260D	ENST00000295685	NM_005731.3	260	gCc/gAc	0	1	1	UPI0000125D3D	0	getma.org/pdb.php?prot=ARPC2_HUMAN&from=56&to=286&var=A260D	ENST00000295685		ENSG00000163466	705		11	3.43		HGNC	p.A260D		ARPC2		SNV							ENST00000315717	protein_coding	getma.org/?cm=var&var=hg19,2,219114545,C,A&fts=all		hmmpanther:PTHR12058,Gene3D:3.30.1460.20,Pfam_domain:PF04045,Superfamily_domains:SSF69645		A/D		A	medium	1040/1605		getma.org/?cm=msa&ty=f&p=ARPC2_HUMAN&rb=56&re=286&var=A260D	deleterious(0)	Q53R19_HUMAN,C9JTV5_HUMAN			YES	ARPC2,missense_variant,p.Ala260Asp,ENST00000295685,NM_005731.3;ARPC2,missense_variant,p.Ala260Asp,ENST00000315717,NM_152862.2;ARPC2,missense_variant,p.Ala75Asp,ENST00000456575,;ARPC2,splice_region_variant,,ENST00000477992,;ARPC2,non_coding_transcript_exon_variant,,ENST00000487321,;ARPC2,downstream_gene_variant,,ENST00000478612,;ARPC2,splice_region_variant,,ENST00000470146,;							MODERATE	779/903	A260D	ARPC2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000295685		CCDS2410.1			1	
ZNF473	0	LGGM	GRCh37	19	50549048	50549048	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	47	3	.	.	ENST00000595661.1:c.1348C>A	p.Arg450=	p.R450=	ENST00000595661		450	Cgg/Agg	0	1		UPI000006ED91	0		ENST00000270617		ENSG00000142528	23239		50			HGNC	p.R450R		ZNF473		SNV							ENST00000270617	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF112,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		A		1707/4688				M0R032_HUMAN,M0QZY7_HUMAN,F8WEC7_HUMAN				ZNF473,synonymous_variant,p.=,ENST00000595661,;ZNF473,synonymous_variant,p.=,ENST00000391821,NM_001006656.1;ZNF473,synonymous_variant,p.=,ENST00000270617,NM_015428.1;ZNF473,synonymous_variant,p.=,ENST00000445728,;ZNF473,intron_variant,,ENST00000601364,;ZNF473,downstream_gene_variant,,ENST00000598809,;ZNF473,downstream_gene_variant,,ENST00000599155,;CTD-2126E3.3,intron_variant,,ENST00000599914,;CTD-2126E3.3,intron_variant,,ENST00000599410,;CTD-2126E3.1,upstream_gene_variant,,ENST00000527209,;ZNF473,downstream_gene_variant,,ENST00000598802,;ZNF473,downstream_gene_variant,,ENST00000594968,;							LOW	1348/2616		ZN473_HUMAN			Transcript			.	ENSP00000270617		CCDS33077.1			1	
PBX3	0	LGGM	GRCh37	9	128723052	128723052	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	40	3	.	.	ENST00000373489.5:c.933G>T	p.Thr311=	p.T311=	ENST00000373489	NM_006195.5	311	acG/acT	0	1	1	UPI00001313B3	0		ENST00000373489		ENSG00000167081	8634		43			HGNC	p.T332T		PBX3		SNV							ENST00000373487	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58		T		T		949/2502				U3KQA2_HUMAN			YES	PBX3,synonymous_variant,p.=,ENST00000373487,;PBX3,synonymous_variant,p.=,ENST00000342287,;PBX3,synonymous_variant,p.=,ENST00000373489,NM_006195.5;PBX3,synonymous_variant,p.=,ENST00000447726,NM_001134778.1;PBX3,synonymous_variant,p.=,ENST00000373483,;PBX3,non_coding_transcript_exon_variant,,ENST00000538998,;PBX3,3_prime_UTR_variant,,ENST00000373482,;PBX3,3_prime_UTR_variant,,ENST00000373492,;							LOW	933/1305		PBX3_HUMAN			Transcript			.	ENSP00000362588		CCDS6865.1			1	
SENP2	0	LGGM	GRCh37	3	185337218	185337218	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	34	3	.	.	ENST00000296257.5:c.1374C>A	p.Thr458=	p.T458=	ENST00000296257	NM_021627.2	458	acC/acA	0	1	1	UPI000007452F	0		ENST00000296257		ENSG00000163904	23116		37			HGNC	p.T458T		SENP2		SNV							ENST00000296257	protein_coding			Gene3D:1euvA02,Pfam_domain:PF02902,PROSITE_profiles:PS50600,hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF11,Superfamily_domains:SSF54001		T		A		1614/5717				J3KQD2_HUMAN,B4E2S4_HUMAN			YES	SENP2,synonymous_variant,p.=,ENST00000296257,NM_021627.2;SENP2,synonymous_variant,p.=,ENST00000427465,;SENP2,synonymous_variant,p.=,ENST00000545472,;SENP2,synonymous_variant,p.=,ENST00000444509,;SENP2,3_prime_UTR_variant,,ENST00000413407,;SENP2,non_coding_transcript_exon_variant,,ENST00000483005,;SENP2,downstream_gene_variant,,ENST00000478001,;							LOW	1374/1770		SENP2_HUMAN			Transcript			.	ENSP00000296257		CCDS33902.1			1	
CST11	0	LGGM	GRCh37	20	23433225	23433225	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	17	3	.	.	ENST00000377009.3:c.224G>A	p.Arg75Lys	p.R75K	ENST00000377009	NM_130794.1	75	aGg/aAg	0	1	1	UPI00000714F3	0	getma.org/pdb.php?prot=CST11_HUMAN&from=33&to=124&var=R75K	ENST00000377009		ENSG00000125831	15959		20	-1.605		HGNC	p.R75K		CST11		SNV							ENST00000377009	protein_coding	getma.org/?cm=var&var=hg19,20,23433225,C,T&fts=all		hmmpanther:PTHR11413:SF7,hmmpanther:PTHR11413,Pfam_domain:PF00031,Gene3D:3.10.450.10,SMART_domains:SM00043,Superfamily_domains:SSF54403		R/K		T	neutral	258/554		getma.org/?cm=msa&ty=f&p=CST11_HUMAN&rb=33&re=124&var=R75K	tolerated(1)				YES	CST11,missense_variant,p.Arg75Lys,ENST00000377009,NM_130794.1;CST11,missense_variant,p.Arg75Lys,ENST00000377007,NM_080830.2;Y_RNA,downstream_gene_variant,,ENST00000363338,;							MODERATE	224/417	R75K	CST11_HUMAN			Transcript		benign(0)	.	ENSP00000366208		CCDS13155.1			1	
TMEM180	0	LGGM	GRCh37	10	104233479	104233479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	28	3	.	.	ENST00000238936.4:c.1078C>A	p.Leu360Met	p.L360M	ENST00000238936	NM_024789.3	360	Ctg/Atg	0	1	1	UPI00002374ED	0	NA	ENST00000238936		ENSG00000138111	26196		31	2.7		HGNC	p.L360M	rs772411814	TMEM180		SNV							ENST00000238936	protein_coding	getma.org/?cm=var&var=hg19,10,104233479,C,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473		L/M		A	medium	1315/2852	1.50E-05	getma.org/?cm=msa&ty=f&p=TM180_HUMAN&rb=8&re=492&var=L360M	tolerated(0.08)	B4DKJ1_HUMAN			YES	TMEM180,missense_variant,p.Leu360Met,ENST00000238936,NM_024789.3;TMEM180,missense_variant,p.Leu89Met,ENST00000366277,;TMEM180,downstream_gene_variant,,ENST00000369931,;TMEM180,downstream_gene_variant,,ENST00000450947,;TMEM180,downstream_gene_variant,,ENST00000469294,;							MODERATE	1078/1554	L360M	TM180_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000238936	8.24E-06	CCDS7535.1			1	
CDH7	0	LGGM	GRCh37	18	63526962	63526962	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	32	3	.	.	ENST00000397968.2:c.1513G>T	p.Ala505Ser	p.A505S	ENST00000397968	NM_004361.2	505	Gct/Tct	0	1		UPI000013D269	0	getma.org/pdb.php?prot=CADH7_HUMAN&from=486&to=583&var=A505S	ENST00000323011		ENSG00000081138	1766		35	3.885		HGNC	p.A505S		CDH7		SNV							ENST00000536984	protein_coding	getma.org/?cm=var&var=hg19,18,63526962,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/S		T	high	1838/2728		getma.org/?cm=msa&ty=f&p=CADH7_HUMAN&rb=486&re=583&var=A505S	deleterious(0)					CDH7,missense_variant,p.Ala505Ser,ENST00000536984,;CDH7,missense_variant,p.Ala505Ser,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Ala505Ser,ENST00000323011,NM_033646.1;							MODERATE	1513/2358	A505S	CADH7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000319166		CCDS11993.1			1	
NOC4L	0	LGGM	GRCh37	12	132630161	132630161	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	25	3	.	.	ENST00000330579.1:c.296G>T	p.Cys99Phe	p.C99F	ENST00000330579	NM_024078.1	99	tGc/tTc	0	1	1	UPI00000723C4	0	NA	ENST00000330579		ENSG00000184967	28461		28	2.215		HGNC	p.C24F		NOC4L		SNV							ENST00000541954	protein_coding	getma.org/?cm=var&var=hg19,12,132630161,G,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR12455:SF0,hmmpanther:PTHR12455		C/F		T	medium	337/1632		getma.org/?cm=msa&ty=f&p=NOC4L_HUMAN&rb=1&re=200&var=C99F	tolerated(0.07)	F5H5K6_HUMAN			YES	NOC4L,missense_variant,p.Cys99Phe,ENST00000330579,NM_024078.1;NOC4L,missense_variant,p.Cys24Phe,ENST00000541954,;DDX51,upstream_gene_variant,,ENST00000397333,NM_175066.3;NOC4L,upstream_gene_variant,,ENST00000535343,;DDX51,upstream_gene_variant,,ENST00000329073,;DDX51,upstream_gene_variant,,ENST00000545991,;DDX51,upstream_gene_variant,,ENST00000541489,;DDX51,upstream_gene_variant,,ENST00000546058,;							MODERATE	296/1551	C99F	NOC4L_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000328854		CCDS9277.1			1	
CACNA1G	0	LGGM	GRCh37	17	48655877	48655877	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	45	3	.	.	ENST00000359106.5:c.2253C>A	p.Ile751=	p.I751=	ENST00000359106	NM_018896.4	751	atC/atA	0	1	1	UPI000012727A	0		ENST00000359106		ENSG00000006283	1394		48			HGNC	p.I751I		CACNA1G		SNV							ENST00000358244	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		I		A		2253/7648							YES	CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000442258,;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,;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.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,;CACNA1G,synonymous_variant,p.=,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;							LOW	2253/7134		CAC1G_HUMAN			Transcript			.	ENSP00000352011		CCDS45730.1			1	
DLGAP1	0	LGGM	GRCh37	18	3874222	3874222	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	38	3	.	.	ENST00000315677.3:c.957+4890G>C		*319*	ENST00000315677	NM_004746.3			0	1	1	UPI0000129490	0	NA	ENST00000315677		ENSG00000170579	2905		41	0		HGNC	p.D3H		DLGAP1		SNV							ENST00000581699	protein_coding	getma.org/?cm=var&var=hg19,18,3874222,C,G&fts=all						G	neutral	-/6683		getma.org/?cm=msa&ty=f&p=A8MYR7_HUMAN&rb=1&re=200&var=D3H					YES	DLGAP1,missense_variant,p.Asp3His,ENST00000400150,NM_001242763.1;DLGAP1,missense_variant,p.Asp3His,ENST00000400155,NM_001242764.1;DLGAP1,missense_variant,p.Asp3His,ENST00000400149,;DLGAP1,missense_variant,p.Asp3His,ENST00000581699,;DLGAP1,intron_variant,,ENST00000315677,NM_004746.3;DLGAP1,intron_variant,,ENST00000581527,NM_001242761.1;DLGAP1,intron_variant,,ENST00000584874,;DLGAP1,intron_variant,,ENST00000515196,;DLGAP1,intron_variant,,ENST00000534970,NM_001242762.1;DLGAP1-AS3,upstream_gene_variant,,ENST00000577649,;DLGAP1,intron_variant,,ENST00000478161,;DLGAP1,intron_variant,,ENST00000498188,;							MODIFIER	-/2934	D3H	DLGP1_HUMAN			Transcript			.	ENSP00000316377		CCDS11836.1			1	
STAT5A	0	LGGM	GRCh37	17	40458297	40458297	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	40	3	.	.	ENST00000345506.4:c.1512G>T	p.Trp504Cys	p.W504C	ENST00000345506	NM_003152.3	504	tgG/tgT	0	1	1	UPI0000136075	0	getma.org/pdb.php?prot=STA5A_HUMAN&from=332&to=583&var=W504C	ENST00000345506		ENSG00000126561	11366		43	3.075		HGNC	p.W473C		STAT5A		SNV							ENST00000588868	protein_coding	getma.org/?cm=var&var=hg19,17,40458297,G,T&fts=all		hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:1.10.238.10,Superfamily_domains:SSF49417		W/C		T	medium	2154/4301		getma.org/?cm=msa&ty=f&p=STA5A_HUMAN&rb=332&re=583&var=W504C	deleterious(0)	K7EIF9_HUMAN,C9JVV6_HUMAN			YES	STAT5A,missense_variant,p.Trp504Cys,ENST00000345506,NM_003152.3,NM_001288718.1;STAT5A,missense_variant,p.Trp504Cys,ENST00000452307,;STAT5A,missense_variant,p.Trp473Cys,ENST00000588868,NM_001288720.1;STAT5A,missense_variant,p.Trp504Cys,ENST00000590949,;STAT5A,missense_variant,p.Trp474Cys,ENST00000546010,;STAT5A,5_prime_UTR_variant,,ENST00000587646,;STAT5A,non_coding_transcript_exon_variant,,ENST00000591556,;STAT5A,non_coding_transcript_exon_variant,,ENST00000468096,;STAT5A,non_coding_transcript_exon_variant,,ENST00000479417,;							MODERATE	1512/2385	W504C	STA5A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341208		CCDS11424.1			1	
ZNF648	0	LGGM	GRCh37	1	182026796	182026796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	36	3	.	.	ENST00000339948.3:c.350C>A	p.Pro117Gln	p.P117Q	ENST00000339948	NM_001009992.1	117	cCg/cAg	0	1	1	UPI0000161414	0	NA	ENST00000339948		ENSG00000179930	18190		39	0.975		HGNC	p.P117Q		ZNF648		SNV							ENST00000339948	protein_coding	getma.org/?cm=var&var=hg19,1,182026796,G,T&fts=all		hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF1		P/Q		T	low	558/3649		getma.org/?cm=msa&ty=f&p=ZN648_HUMAN&rb=100&re=176&var=P117Q	tolerated(0.09)				YES	ZNF648,missense_variant,p.Pro117Gln,ENST00000339948,NM_001009992.1;							MODERATE	350/1707	P117Q	ZN648_HUMAN			Transcript		benign(0.431)	.	ENSP00000344129		CCDS30952.1			1	
TLR9	0	LGGM	GRCh37	3	52257778	52257778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	25	3	.	.	ENST00000360658.2:c.554G>T	p.Arg185Met	p.R185M	ENST00000360658	NM_017442.3	185	aGg/aTg	0	1	1	UPI0000001625	0	NA	ENST00000360658		ENSG00000239732	15633		28	0		HGNC	p.R209M		TLR9		SNV							ENST00000597542	protein_coding	getma.org/?cm=var&var=hg19,3,52257778,C,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF37,Superfamily_domains:SSF52058		R/M		A	neutral	1188/3870		getma.org/?cm=msa&ty=f&p=TLR9_HUMAN&rb=149&re=199&var=R185M	tolerated(0.11)	C3W5P5_HUMAN			YES	TLR9,missense_variant,p.Arg209Met,ENST00000597542,;TLR9,missense_variant,p.Arg185Met,ENST00000360658,NM_017442.3;TLR9,missense_variant,p.Arg339Met,ENST00000494383,;TWF2,downstream_gene_variant,,ENST00000305533,NM_007284.3;TWF2,downstream_gene_variant,,ENST00000499914,;TLR9,downstream_gene_variant,,ENST00000478201,;							MODERATE	554/3099	R185M	TLR9_HUMAN			Transcript		benign(0.308)	.	ENSP00000353874		CCDS2848.1			1	
EML2	0	LGGM	GRCh37	19	46113028	46113028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	46	3	.	.	ENST00000587152.1:c.2446G>T	p.Gly816Cys	p.G816C	ENST00000587152	NM_001193268.1	816	Ggt/Tgt	0	1		UPI0000129EA3	0	NA	ENST00000245925		ENSG00000125746	18035		49	2.86		HGNC	p.G762C		EML2		SNV							ENST00000536630	protein_coding	getma.org/?cm=var&var=hg19,19,46113028,C,A&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/C		A	medium	1894/2264		getma.org/?cm=msa&ty=f&p=EMAL2_HUMAN&rb=535&re=649&var=G615C	deleterious(0.02)	K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN				EML2,missense_variant,p.Gly762Cys,ENST00000536630,NM_001193269.1;EML2,missense_variant,p.Gly816Cys,ENST00000587152,NM_001193268.1;EML2,missense_variant,p.Gly615Cys,ENST00000245925,NM_012155.2;EML2,intron_variant,,ENST00000589876,;EML2,3_prime_UTR_variant,,ENST00000588308,;EML2,3_prime_UTR_variant,,ENST00000586195,;EML2,3_prime_UTR_variant,,ENST00000586405,;EML2,non_coding_transcript_exon_variant,,ENST00000592433,;							MODERATE	1843/1950	G615C	EMAL2_HUMAN			Transcript		benign(0.06)	.	ENSP00000245925		CCDS12670.1			1	
FSCN2	0	LGGM	GRCh37	17	79495691	79495691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	14	3	.	.	ENST00000334850.7:c.134C>A	p.Thr45Asn	p.T45N	ENST00000334850		45	aCc/aAc	0	1		UPI000012AC5E	0	getma.org/pdb.php?prot=FSCN2_HUMAN&from=20&to=133&var=T45N	ENST00000417245		ENSG00000186765	3960		17	1.32		HGNC	p.T45N		FSCN2		SNV			1				ENST00000334850	protein_coding	getma.org/?cm=var&var=hg19,17,79495691,C,A&fts=all		Gene3D:2.80.10.50,Pfam_domain:PF06268,PIRSF_domain:PIRSF005682,hmmpanther:PTHR10551,hmmpanther:PTHR10551:SF4,Superfamily_domains:SSF50405		T/N		A	low	270/1665		getma.org/?cm=msa&ty=f&p=FSCN2_HUMAN&rb=20&re=133&var=T45N	deleterious(0)					FSCN2,missense_variant,p.Thr45Asn,ENST00000417245,NM_012418.3,NM_001077182.2;FSCN2,missense_variant,p.Thr45Asn,ENST00000334850,;ACTG1,upstream_gene_variant,,ENST00000575994,;RP13-766D20.2,downstream_gene_variant,,ENST00000442532,;RP13-766D20.2,downstream_gene_variant,,ENST00000430912,;							MODERATE	134/1479	T45N	FSCN2_HUMAN			Transcript		benign(0.289)	.	ENSP00000388716		CCDS45811.1			1	
PYROXD2	0	LGGM	GRCh37	10	100144713	100144713	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	6	3	.	.	ENST00000370575.4:c.1666G>T	p.Ala556Ser	p.A556S	ENST00000370575	NM_032709.2	556	Gct/Tct	0	1	1	UPI000013CA6A	0	NA	ENST00000370575		ENSG00000119943	23517		9	1.11		HGNC	p.A556S		PYROXD2		SNV							ENST00000370575	protein_coding	getma.org/?cm=var&var=hg19,10,100144713,C,A&fts=all		hmmpanther:PTHR10668:SF4,hmmpanther:PTHR10668,Gene3D:3.50.50.60		A/S		A	low	1715/2028		getma.org/?cm=msa&ty=f&p=PYRD2_HUMAN&rb=503&re=581&var=A556S	tolerated(0.25)	B4DIN5_HUMAN			YES	PYROXD2,missense_variant,p.Ala556Ser,ENST00000370575,NM_032709.2;PYROXD2,non_coding_transcript_exon_variant,,ENST00000483923,;PYROXD2,downstream_gene_variant,,ENST00000464808,;							MODERATE	1666/1746	A556S	PYRD2_HUMAN			Transcript		benign(0.011)	.	ENSP00000359607		CCDS7474.1			1	
CACNA1S	0	LGGM	GRCh37	1	201009396	201009396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	25	3	.	.	ENST00000362061.3:c.5333G>T	p.Arg1778Met	p.R1778M	ENST00000362061	NM_000069.2	1778	aGg/aTg	0	1	1	UPI000020471D	0	NA	ENST00000362061		ENSG00000081248	1397		28	1.39		HGNC	p.R1778M		CACNA1S		SNV			1				ENST00000362061	protein_coding	getma.org/?cm=var&var=hg19,1,201009396,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190		R/M		A	low	5560/6166		getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=1749&re=1873&var=R1778M	tolerated_low_confidence(0.1)	Q13062_HUMAN,Q12966_HUMAN			YES	CACNA1S,missense_variant,p.Arg1778Met,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Arg1759Met,ENST00000367338,;RP11-168O16.2,intron_variant,,ENST00000415359,;							MODERATE	5333/5622	R1778M	CAC1S_HUMAN			Transcript		benign(0.071)	.	ENSP00000355192		CCDS1407.1			1	
POLR3F	0	LGGM	GRCh37	20	18461059	18461059	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	29	3	.	.	ENST00000377603.4:c.587G>T	p.Arg196Leu	p.R196L	ENST00000377603	NM_006466.2	196	cGa/cTa	0	1	1	UPI0000134605	0	NA	ENST00000377603		ENSG00000132664	15763		32	0.755		HGNC	p.R196L		POLR3F		SNV							ENST00000377603	protein_coding	getma.org/?cm=var&var=hg19,20,18461059,G,T&fts=all		hmmpanther:PTHR12780:SF0,hmmpanther:PTHR12780,Pfam_domain:PF05158,PIRSF_domain:PIRSF028763		R/L		T	neutral	967/2416		getma.org/?cm=msa&ty=f&p=RPC6_HUMAN&rb=1&re=315&var=R196L	tolerated(0.17)	Q05DB8_HUMAN			YES	POLR3F,missense_variant,p.Arg196Leu,ENST00000377603,NM_006466.2;POLR3F,non_coding_transcript_exon_variant,,ENST00000462997,;POLR3F,non_coding_transcript_exon_variant,,ENST00000489753,;POLR3F,non_coding_transcript_exon_variant,,ENST00000497333,;RPL21P3,upstream_gene_variant,,ENST00000395517,;							MODERATE	587/951	R196L	RPC6_HUMAN			Transcript		benign(0.003)	.	ENSP00000366828		CCDS13135.1			1	
FANCM	0	LGGM	GRCh37	14	45623946	45623946	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	34	3	.	.	ENST00000267430.5:c.1230G>A	p.Met410Ile	p.M410I	ENST00000267430	NM_020937.2	410	atG/atA	0	1	1	UPI000059F032	0	getma.org/pdb.php?prot=FANCM_HUMAN&from=256&to=455&var=M410I	ENST00000267430		ENSG00000187790	23168		37	1.935		HGNC	p.M410I		FANCM		SNV			1				ENST00000267430	protein_coding	getma.org/?cm=var&var=hg19,14,45623946,G,A&fts=all		Gene3D:1wp9B03,hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		M/I		A	medium	1315/7111		getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=256&re=455&var=M410I	deleterious(0.01)				YES	FANCM,missense_variant,p.Met410Ile,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Met384Ile,ENST00000542564,;FANCM,missense_variant,p.Met410Ile,ENST00000556036,;FANCM,upstream_gene_variant,,ENST00000556250,;							MODERATE	1230/6147	M410I	FANCM_HUMAN			Transcript		benign(0.007)	.	ENSP00000267430		CCDS32070.1			1	
C1orf177	0	LGGM	GRCh37	1	55273637	55273637	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	41	3	.	.	ENST00000371273.3:c.433C>A	p.Arg145=	p.R145=	ENST00000371273	NM_001110533.1	145	Cgg/Agg	0	1	1	UPI0000204405	0		ENST00000371273		ENSG00000162398	26854		44			HGNC	p.R145R		C1orf177		SNV							ENST00000358193	protein_coding					R		A		448/1651							YES	C1orf177,synonymous_variant,p.=,ENST00000358193,NM_152607.2;C1orf177,synonymous_variant,p.=,ENST00000371273,NM_001110533.1;							LOW	433/1257		CA177_HUMAN			Transcript			.	ENSP00000360320		CCDS44153.1			1	
KDM6B	0	LGGM	GRCh37	17	7755912	7755912	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	28	3	.	.	ENST00000254846.5:c.4568G>T	p.Arg1523Leu	p.R1523L	ENST00000254846	NM_001080424.1	1523	cGc/cTc	0	1		UPI00001C1FC7	0	getma.org/pdb.php?prot=KDM6B_HUMAN&from=1486&to=1643&var=R1523L	ENST00000448097		ENSG00000132510	29012		31	2.58		HGNC	p.R1523L		KDM6B		SNV							ENST00000448097	protein_coding	getma.org/?cm=var&var=hg19,17,7755912,G,T&fts=all		hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5,Superfamily_domains:SSF51197		R/L		T	medium	4899/5422		getma.org/?cm=msa&ty=f&p=KDM6B_HUMAN&rb=1486&re=1643&var=R1523L						KDM6B,missense_variant,p.Arg1523Leu,ENST00000254846,NM_001080424.1;KDM6B,missense_variant,p.Arg1523Leu,ENST00000448097,;LSMD1,downstream_gene_variant,,ENST00000333775,NM_032356.3;TMEM88,upstream_gene_variant,,ENST00000301599,NM_203411.1;LSMD1,downstream_gene_variant,,ENST00000575771,;LSMD1,downstream_gene_variant,,ENST00000576861,;LSMD1,downstream_gene_variant,,ENST00000575071,;LSMD1,downstream_gene_variant,,ENST00000575208,;TMEM88,upstream_gene_variant,,ENST00000574668,;LSMD1,downstream_gene_variant,,ENST00000576384,;LSMD1,downstream_gene_variant,,ENST00000335155,;LSMD1,downstream_gene_variant,,ENST00000570555,;							MODERATE	4568/4932	R1523L	KDM6B_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000412513					1	
KIAA1522	0	LGGM	GRCh37	1	33235538	33235538	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	5	3	.	.	ENST00000401073.2:c.758C>G	p.Ala253Gly	p.A253G	ENST00000401073	NM_020888.2	253	gCc/gGc	0	1		UPI00001C1D6F	0	NA	ENST00000373480		ENSG00000162522	29301		8	1.39		HGNC	p.A253G		KIAA1522		SNV							ENST00000401073	protein_coding	getma.org/?cm=var&var=hg19,1,33235538,C,G&fts=all		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF6		A/G		G	low	684/5294		getma.org/?cm=msa&ty=f&p=K1522_HUMAN&rb=1&re=200&var=A194G	deleterious(0.04)					KIAA1522,missense_variant,p.Ala253Gly,ENST00000401073,NM_020888.2;KIAA1522,missense_variant,p.Ala194Gly,ENST00000373480,NM_001198972.1;KIAA1522,missense_variant,p.Ala205Gly,ENST00000373481,;KIAA1522,intron_variant,,ENST00000294521,NM_001198973.1;KIAA1522,downstream_gene_variant,,ENST00000468130,;							MODERATE	581/3108	A194G	K1522_HUMAN			Transcript		unknown(0)	.	ENSP00000362579		CCDS55588.1			1	
SERPINB13	0	LGGM	GRCh37	18	61261608	61261608	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	37	3	.	.	ENST00000344731.5:c.492C>A	p.Phe164Leu	p.F164L	ENST00000344731	NM_012397.3	164	ttC/ttA	0	1	1	UPI000004EE29	0	getma.org/pdb.php?prot=SPB13_HUMAN&from=6&to=391&var=F164L	ENST00000344731		ENSG00000197641	8944		40	-0.32		HGNC	p.F164L	rs762507739	SERPINB13		SNV				9.62E-05			ENST00000269489	protein_coding	getma.org/?cm=var&var=hg19,18,61261608,C,A&fts=all		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF152,SMART_domains:SM00093,Superfamily_domains:SSF56574		F/L		A	neutral	594/3114		getma.org/?cm=msa&ty=f&p=SPB13_HUMAN&rb=6&re=391&var=F164L	tolerated(0.16)				YES	SERPINB13,missense_variant,p.Phe164Leu,ENST00000344731,NM_012397.3;SERPINB13,missense_variant,p.Phe164Leu,ENST00000269489,;SERPINB13,intron_variant,,ENST00000415733,;SERPINB13,downstream_gene_variant,,ENST00000431153,;SERPINB13,3_prime_UTR_variant,,ENST00000438844,;SERPINB13,downstream_gene_variant,,ENST00000479842,;							MODERATE	492/1176	F164L	SPB13_HUMAN			Transcript		benign(0.022)	.	ENSP00000341584	8.24E-06	CCDS11985.1			1	
WDR33	0	LGGM	GRCh37	2	128528375	128528375	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	41	3	.	.	ENST00000322313.4:c.181C>A	p.Pro61Thr	p.P61T	ENST00000322313	NM_018383.4	61	Cca/Aca	0	1	1	UPI000013D032	0	NA	ENST00000322313		ENSG00000136709	25651		44	0.145		HGNC	p.P61T		WDR33		SNV							ENST00000409658	protein_coding	getma.org/?cm=var&var=hg19,2,128528375,G,T&fts=all		hmmpanther:PTHR22836		P/T		T	neutral	340/9471		getma.org/?cm=msa&ty=f&p=WDR33_HUMAN&rb=1&re=150&var=P61T	deleterious(0.03)	C9J8B4_HUMAN,B9A053_HUMAN			YES	WDR33,missense_variant,p.Pro61Thr,ENST00000322313,NM_018383.4;WDR33,missense_variant,p.Pro61Thr,ENST00000393006,NM_001006623.2;WDR33,missense_variant,p.Pro61Thr,ENST00000409658,NM_001006622.2;WDR33,missense_variant,p.Pro61Thr,ENST00000408998,;WDR33,intron_variant,,ENST00000436787,;							MODERATE	181/4011	P61T	WDR33_HUMAN			Transcript		unknown(0)	.	ENSP00000325377		CCDS2150.1			1	
DIS3L	0	LGGM	GRCh37	15	66618702	66618702	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	47	3	.	.	ENST00000319212.4:c.2201G>T	p.Arg734Leu	p.R734L	ENST00000319212	NM_001143688.1	734	cGg/cTg	0	1	1	UPI000162779D	0	getma.org/pdb.php?prot=DI3L1_HUMAN&from=465&to=817&var=R734L	ENST00000319212		ENSG00000166938	28698		50	-0.33		HGNC	p.R651L		DIS3L		SNV							ENST00000319194	protein_coding	getma.org/?cm=var&var=hg19,15,66618702,G,T&fts=all		Pfam_domain:PF00773,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30,SMART_domains:SM00955,Superfamily_domains:SSF50249		R/L		T	neutral	2251/3647		getma.org/?cm=msa&ty=f&p=DI3L1_HUMAN&rb=465&re=817&var=R734L	deleterious(0.04)	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN			YES	DIS3L,missense_variant,p.Arg651Leu,ENST00000319194,NM_133375.3;DIS3L,missense_variant,p.Arg734Leu,ENST00000319212,NM_001143688.1;DIS3L,downstream_gene_variant,,ENST00000441424,;RP11-352G18.2,intron_variant,,ENST00000565993,;DIS3L,upstream_gene_variant,,ENST00000568874,;DIS3L,splice_region_variant,,ENST00000530537,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564909,;DIS3L,non_coding_transcript_exon_variant,,ENST00000565281,;DIS3L,downstream_gene_variant,,ENST00000524795,;DIS3L,upstream_gene_variant,,ENST00000564945,;							MODERATE	2201/3165	R734L	DI3L1_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000321711		CCDS45286.1			1	
RRP9	0	LGGM	GRCh37	3	51970352	51970352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	27	3	.	.	ENST00000232888.6:c.656G>T	p.Arg219Leu	p.R219L	ENST00000232888	NM_004704.4	219	cGc/cTc	0	1	1	UPI000006F889	0	NA	ENST00000232888		ENSG00000114767	16829		30	0.5		HGNC	p.R219L		RRP9		SNV							ENST00000232888	protein_coding	getma.org/?cm=var&var=hg19,3,51970352,C,A&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19865,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/L		A	neutral	730/1578		getma.org/?cm=msa&ty=f&p=U3IP2_HUMAN&rb=193&re=227&var=R219L	tolerated(0.22)				YES	RRP9,missense_variant,p.Arg219Leu,ENST00000232888,NM_004704.4;							MODERATE	656/1428	R219L	U3IP2_HUMAN			Transcript		benign(0.168)	.	ENSP00000232888		CCDS2837.1			1	
INPP5J	0	LGGM	GRCh37	22	31521059	31521059	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	22	3	.	.	ENST00000404390.3:c.167+167G>T		*56*	ENST00000404390	NM_001002837.1			0	1		UPI000004CB11	0		ENST00000331075		ENSG00000185133	8956		25			HGNC	p.G45C		INPP5J		SNV							ENST00000412277	protein_coding					G/C		T		383/3347			deleterious_low_confidence(0)	C9K0M5_HUMAN,C9J0H5_HUMAN,B5MBZ3_HUMAN,B4DF95_HUMAN				INPP5J,missense_variant,p.Gly112Cys,ENST00000331075,NM_001284285.1;INPP5J,missense_variant,p.Gly45Cys,ENST00000412277,NM_001284286.1;INPP5J,missense_variant,p.Gly45Cys,ENST00000412985,;INPP5J,intron_variant,,ENST00000405300,NM_001284289.1;INPP5J,intron_variant,,ENST00000400294,NM_001284288.1;INPP5J,intron_variant,,ENST00000404390,NM_001002837.1;INPP5J,intron_variant,,ENST00000420017,;INPP5J,upstream_gene_variant,,ENST00000401755,;INPP5J,upstream_gene_variant,,ENST00000404453,;INPP5J,upstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,intron_variant,,ENST00000461241,;							MODERATE	334/3021		PI5PA_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000333262		CCDS63453.1			1	
ERAP1	0	LGGM	GRCh37	5	96129144	96129144	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	35	3	.	.	ENST00000296754.3:c.1147G>T	p.Glu383Ter	p.E383*	ENST00000296754	NM_016442.3	383	Gag/Tag	0	1		UPI0000041388	0	NA	ENST00000443439		ENSG00000164307	18173		38	0		HGNC	p.E383X		ERAP1		SNV							ENST00000414384	protein_coding	getma.org/?cm=var&var=hg19,5,96129144,C,A&fts=all		hmmpanther:PTHR11533:SF156,hmmpanther:PTHR11533,Gene3D:1.10.390.10,Pfam_domain:PF01433,Superfamily_domains:SSF55486		E/*		A	NA	1214/4805		NA		D6RAL9_HUMAN				ERAP1,stop_gained,p.Glu383Ter,ENST00000296754,NM_016442.3;ERAP1,stop_gained,p.Glu383Ter,ENST00000443439,NM_001040458.1,NM_001198541.1;ERAP1,downstream_gene_variant,,ENST00000503921,;ERAP1,non_coding_transcript_exon_variant,,ENST00000503311,;ERAP1,upstream_gene_variant,,ENST00000507859,;							HIGH	1147/2826	E383*	ERAP1_HUMAN			Transcript			.	ENSP00000406304		CCDS47250.1			1	
PRAM1	0	LGGM	GRCh37	19	8564345	8564345	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	25	3	.	.	ENST00000423345.4:c.347C>A	p.Pro116His	p.P116H	ENST00000423345		116	cCc/cAc	0	1	1	UPI00001AE786	0	NA	ENST00000423345		ENSG00000133246	30091		28	2.295		HGNC	p.P92H		PRAM1		SNV							ENST00000600262	protein_coding	getma.org/?cm=var&var=hg19,19,8564345,G,T&fts=all		hmmpanther:PTHR16830:SF6,hmmpanther:PTHR16830		P/H		T	medium	868/2667		getma.org/?cm=msa&ty=f&p=PRAM_HUMAN&rb=1&re=179&var=P164H	deleterious(0)				YES	PRAM1,missense_variant,p.Pro116His,ENST00000423345,;PRAM1,missense_variant,p.Pro116His,ENST00000255612,NM_032152.4;PRAM1,missense_variant,p.Pro92His,ENST00000600262,;							MODERATE	347/2013	P164H	PRAM_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000408342		CCDS45954.2			1	
ALK	0	LGGM	GRCh37	2	29474091	29474091	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	12	3	.	.	ENST00000389048.3:c.2084G>T	p.Gly695Val	p.G695V	ENST00000389048	NM_004304.4	695	gGc/gTc	0	1	1	UPI00001684DA	0	NA	ENST00000389048		ENSG00000171094	427		15	2.415		HGNC	p.G695V		ALK		SNV			1				ENST00000389048	protein_coding	getma.org/?cm=var&var=hg19,2,29474091,C,A&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276		G/V		A	medium	2991/6220		getma.org/?cm=msa&ty=f&p=ALK_HUMAN&rb=637&re=727&var=G695V	deleterious(0)	Q580I3_HUMAN			YES	ALK,missense_variant,p.Gly695Val,ENST00000389048,NM_004304.4;ALK,intron_variant,,ENST00000431873,;							MODERATE	2084/4863	G695V	ALK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000373700		CCDS33172.1			1	
THNSL2	0	LGGM	GRCh37	2	88485540	88485540	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	4	3	.	.	ENST00000324166.5:c.1353C>A	p.Cys451Ter	p.C451*	ENST00000324166	NM_018271.4	451	tgC/tgA	0	1	1	UPI00002088D9	0	NA	ENST00000324166		ENSG00000144115	25602		7	0		HGNC	p.C451X		THNSL2		SNV							ENST00000324166	protein_coding	getma.org/?cm=var&var=hg19,2,88485540,C,A&fts=all		hmmpanther:PTHR10314:SF89,hmmpanther:PTHR10314,Superfamily_domains:SSF53686		C/*		A	NA	3044/3649		NA		C9J3J1_HUMAN			YES	THNSL2,stop_gained,p.Cys451Ter,ENST00000324166,NM_018271.4;THNSL2,stop_gained,p.Cys451Ter,ENST00000358591,;THNSL2,3_prime_UTR_variant,,ENST00000343544,NM_001244676.1;THNSL2,3_prime_UTR_variant,,ENST00000377254,;THNSL2,3_prime_UTR_variant,,ENST00000449349,;THNSL2,downstream_gene_variant,,ENST00000402102,;THNSL2,non_coding_transcript_exon_variant,,ENST00000496844,;THNSL2,downstream_gene_variant,,ENST00000496165,;THNSL2,downstream_gene_variant,,ENST00000476349,;THNSL2,downstream_gene_variant,,ENST00000464022,;							HIGH	1353/1455	C451*	THNS2_HUMAN			Transcript			.	ENSP00000327323		CCDS2002.2			1	
PMFBP1	0	LGGM	GRCh37	16	72164542	72164542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	24	3	.	.	ENST00000237353.10:c.1527G>T	p.Lys509Asn	p.K509N	ENST00000237353	NM_031293.2	509	aaG/aaT	0	1	1	UPI0000141554	0	NA	ENST00000237353		ENSG00000118557	17728		27	-0.345		HGNC	p.K509N		PMFBP1		SNV							ENST00000237353	protein_coding	getma.org/?cm=var&var=hg19,16,72164542,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881		K/N		A	neutral	1789/3527		getma.org/?cm=msa&ty=f&p=PMFBP_HUMAN&rb=330&re=529&var=K514N	tolerated(0.77)	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN			YES	PMFBP1,missense_variant,p.Lys514Asn,ENST00000537465,;PMFBP1,missense_variant,p.Lys509Asn,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Lys364Asn,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.Lys312Asn,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;							MODERATE	1527/3024	K514N	PMFBP_HUMAN			Transcript		benign(0)	.	ENSP00000237353		CCDS32483.1			1	
SLC12A6	0	LGGM	GRCh37	15	34628826	34628826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	39	3	.	.	ENST00000354181.3:c.56C>A	p.Pro19Gln	p.P19Q	ENST00000354181		19	cCg/cAg	0	1	1	UPI0000135427	0	NA	ENST00000354181		ENSG00000140199	10914		42	0		HGNC	p.P10Q		SLC12A6		SNV			1				ENST00000558589	protein_coding	getma.org/?cm=var&var=hg19,15,34628826,G,T&fts=all				P/Q		T	neutral	549/4568		getma.org/?cm=msa&ty=f&p=S12A6_HUMAN&rb=1&re=189&var=P19Q	deleterious_low_confidence(0.01)	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	SLC12A6,missense_variant,p.Pro19Gln,ENST00000354181,;SLC12A6,missense_variant,p.Pro19Gln,ENST00000560611,NM_133647.1;SLC12A6,missense_variant,p.Pro19Gln,ENST00000397707,NM_001042497.1;SLC12A6,missense_variant,p.Pro10Gln,ENST00000558589,NM_001042496.1;SLC12A6,missense_variant,p.Pro19Gln,ENST00000558667,;SLC12A6,missense_variant,p.Pro19Gln,ENST00000559236,;SLC12A6,missense_variant,p.Pro10Gln,ENST00000561120,;SLC12A6,intron_variant,,ENST00000458406,NM_001042494.1;SLC12A6,intron_variant,,ENST00000397702,NM_001042495.1;SLC12A6,intron_variant,,ENST00000559484,;SLC12A6,missense_variant,p.Pro19Gln,ENST00000561080,;SLC12A6,missense_variant,p.Pro19Gln,ENST00000559664,;SLC12A6,intron_variant,,ENST00000559523,;							MODERATE	56/3453	P19Q	S12A6_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000346112		CCDS58352.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70744881	70744881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	32	3	.	.	ENST00000260126.4:c.28G>T	p.Gly10Trp	p.G10W	ENST00000260126	NM_030958.2	10	Ggg/Tgg	0	1	1	UPI0000140F53	0	NA	ENST00000260126		ENSG00000137571	19046		35	0		HGNC	p.G10W	COSM3675153	SLCO5A1		SNV						1	ENST00000530307	protein_coding	getma.org/?cm=var&var=hg19,8,70744881,C,A&fts=all				G/W		A	neutral	735/9076		getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=1&re=126&var=G10W	deleterious_low_confidence(0.03)				YES	SLCO5A1,missense_variant,p.Gly10Trp,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Gly10Trp,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Gly10Trp,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,missense_variant,p.Gly10Trp,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;					1		MODERATE	28/2547	G10W	SO5A1_HUMAN			Transcript		possibly_damaging(0.523)	.	ENSP00000260126		CCDS6205.1			1	
IGKV2D-29	0	LGGM	GRCh37	2	89986825	89986825	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	45	3	.	.	ENST00000491977.1:c.106G>T	p.Gly36Ter	p.G36*	ENST00000491977		36	Gga/Tga	0	1	1	UPI0000176794	0		ENST00000491977		ENSG00000243264	5800		48			HGNC	p.G36X		IGKV2D-29		SNV							ENST00000491977	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF155,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/*		T		136/390							YES	IGKV2D-29,stop_gained,p.Gly36Ter,ENST00000491977,;							HIGH	106/360					Transcript			.	ENSP00000417637					1	
SEC16A	0	LGGM	GRCh37	9	139369508	139369508	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	91	4	.	.	ENST00000313050.7:c.2560G>T	p.Glu854Ter	p.E854*	ENST00000313050	NM_014866.1	854	Gag/Tag	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006		95	0		HGNC	p.E854X		SEC16A		SNV							ENST00000313050	protein_coding	getma.org/?cm=var&var=hg19,9,139369508,C,A&fts=all		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7		E/*		A	NA	2634/8806		NA		J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,stop_gained,p.Glu854Ter,ENST00000313050,NM_014866.1;SEC16A,stop_gained,p.Glu676Ter,ENST00000371706,NM_001276418.1;SEC16A,stop_gained,p.Glu676Ter,ENST00000290037,;SEC16A,stop_gained,p.Glu676Ter,ENST00000431893,;							HIGH	2560/7074	E676*				Transcript			.	ENSP00000325827		CCDS55351.1			1	
MBD4	0	LGGM	GRCh37	3	129151983	129151983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	70	4	.	.	ENST00000249910.1:c.1519G>T	p.Gly507Cys	p.G507C	ENST00000249910		507	Ggt/Tgt	0	1	1	UPI0000073E6A	0	getma.org/pdb.php?prot=MBD4_HUMAN&from=461&to=572&var=G507C	ENST00000249910		ENSG00000129071	6919		74	3.29		HGNC	p.G501C		MBD4		SNV							ENST00000429544	protein_coding	getma.org/?cm=var&var=hg19,3,129151983,C,A&fts=all		hmmpanther:PTHR15074,hmmpanther:PTHR15074:SF2,Gene3D:1.10.340.30,Pfam_domain:PF00730,PIRSF_domain:PIRSF038005,Superfamily_domains:SSF48150		G/C		A	medium	1695/2470		getma.org/?cm=msa&ty=f&p=MBD4_HUMAN&rb=461&re=572&var=G507C	deleterious(0)				YES	MBD4,missense_variant,p.Gly501Cys,ENST00000429544,NM_001276270.1,NM_003925.2,NM_001276272.1;MBD4,missense_variant,p.Gly507Cys,ENST00000249910,;MBD4,missense_variant,p.Gly507Cys,ENST00000507208,NM_001276271.1;MBD4,missense_variant,p.Gly507Cys,ENST00000503197,;MBD4,missense_variant,p.Gly189Cys,ENST00000393278,NM_001276273.1;EFCAB12,upstream_gene_variant,,ENST00000505956,NM_207307.1;EFCAB12,upstream_gene_variant,,ENST00000326085,;EFCAB12,upstream_gene_variant,,ENST00000503957,;MBD4,downstream_gene_variant,,ENST00000509587,;MBD4,downstream_gene_variant,,ENST00000505883,;MBD4,3_prime_UTR_variant,,ENST00000509828,;MBD4,non_coding_transcript_exon_variant,,ENST00000511009,;MBD4,non_coding_transcript_exon_variant,,ENST00000515266,;							MODERATE	1519/1743	G507C	MBD4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000249910		CCDS3058.1			1	
PHF20L1	0	LGGM	GRCh37	8	133848948	133848948	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	38	4	.	.	ENST00000395386.2:c.2073G>T	p.Glu691Asp	p.E691D	ENST00000395386	NM_016018.4	691	gaG/gaT	0	1	1	UPI0000DBD7AF	0	getma.org/pdb.php?prot=P20L1_HUMAN&from=683&to=729&var=E691D	ENST00000395386		ENSG00000129292	24280		42	0.72		HGNC	p.E78D		PHF20L1		SNV							ENST00000220847	protein_coding	getma.org/?cm=var&var=hg19,8,133848948,G,T&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00628,PROSITE_patterns:PS01359,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26,Superfamily_domains:SSF57903		E/D		T	neutral	2372/6237		getma.org/?cm=msa&ty=f&p=P20L1_HUMAN&rb=683&re=729&var=E691D	deleterious(0)	E5RK91_HUMAN,B3KWX5_HUMAN			YES	PHF20L1,missense_variant,p.Glu691Asp,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Glu666Asp,ENST00000395390,NM_001277196.1;PHF20L1,missense_variant,p.Glu78Asp,ENST00000220847,;AF230666.2,downstream_gene_variant,,ENST00000608375,;AF230666.2,downstream_gene_variant,,ENST00000429151,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000493126,;PHF20L1,upstream_gene_variant,,ENST00000477051,;							MODERATE	2073/3054	E691D	P20L1_HUMAN			Transcript		benign(0.298)	.	ENSP00000378784		CCDS6367.2			1	
CNR2	0	LGGM	GRCh37	1	24201769	24201769	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	57	4	.	.	ENST00000536471.1:c.339G>T	p.Val113=	p.V113=	ENST00000536471		113	gtG/gtT	0	1		UPI000000DCA3	0		ENST00000374472		ENSG00000188822	2160		61			HGNC	p.V113V		CNR2		SNV							ENST00000536471	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF11,PROSITE_profiles:PS50262		V		A		501/5254				C6ES44_HUMAN				CNR2,synonymous_variant,p.=,ENST00000536471,;CNR2,synonymous_variant,p.=,ENST00000374472,NM_001841.2;							LOW	339/1083		CNR2_HUMAN			Transcript			.	ENSP00000363596		CCDS245.1			1	
SMARCB1	0	LGGM	GRCh37	22	24143165	24143165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	47	4	.	.	ENST00000263121.7:c.397C>A	p.Pro133Thr	p.P133T	ENST00000263121	NM_003073.3	133	Ccc/Acc	0	1	1	UPI00000019FA	0	NA	ENST00000263121		ENSG00000099956	11103		51	2.14		HGNC	p.P133T	COSM1130490,COSM1130491	SMARCB1		SNV			1			1,1	ENST00000263121	protein_coding	getma.org/?cm=var&var=hg19,22,24143165,C,A&fts=all		hmmpanther:PTHR10019,PIRSF_domain:PIRSF038126		P/T		A	medium	593/1690		getma.org/?cm=msa&ty=f&p=SNF5_HUMAN&rb=1&re=177&var=P133T	deleterious(0.01)				YES	SMARCB1,missense_variant,p.Pro124Thr,ENST00000344921,;SMARCB1,missense_variant,p.Pro133Thr,ENST00000263121,NM_003073.3;SMARCB1,missense_variant,p.Pro124Thr,ENST00000407422,NM_001007468.1;SMARCB1,missense_variant,p.Pro133Thr,ENST00000417137,;SMARCB1,intron_variant,,ENST00000407082,;SMARCB1,non_coding_transcript_exon_variant,,ENST00000491967,;					1,1		MODERATE	397/1158	P133T	SNF5_HUMAN			Transcript		benign(0.285)	.	ENSP00000263121		CCDS13817.1			1	
OR52B6	0	LGGM	GRCh37	11	5602249	5602249	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	49	4	.	.	ENST00000345043.2:c.143C>T	p.Ser48Phe	p.S48F	ENST00000345043	NM_001005162.2	48	tCc/tTc	0	1	1	UPI0000140EA9	0	NA	ENST00000345043		ENSG00000187747	15211		53	1.05		HGNC	p.S48F		OR52B6		SNV							ENST00000345043	protein_coding	getma.org/?cm=var&var=hg19,11,5602249,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF32,Superfamily_domains:SSF81321		S/F		T	low	143/1008		getma.org/?cm=msa&ty=f&p=O52B6_HUMAN&rb=1&re=149&var=S48F	deleterious(0)				YES	OR52B6,missense_variant,p.Ser48Phe,ENST00000345043,NM_001005162.2;HBG2,intron_variant,,ENST00000380259,;AC015691.13,intron_variant,,ENST00000394793,;							MODERATE	143/1008	S48F	O52B6_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000341581		CCDS41611.1			1	
SERPINA3	0	LGGM	GRCh37	14	95081156	95081156	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	49	4	.	.	ENST00000467132.1:c.378C>A	p.Leu126=	p.L126=	ENST00000467132		126	ctC/ctA	0	1		UPI000012509B	0		ENST00000393080		ENSG00000196136	16		53			HGNC	p.L126L		SERPINA3		SNV			1				ENST00000467132	protein_coding			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF145,SMART_domains:SM00093,Superfamily_domains:SSF56574		L		A		446/1581				G3V5I3_HUMAN,G3V3A0_HUMAN				SERPINA3,synonymous_variant,p.=,ENST00000467132,;SERPINA3,synonymous_variant,p.=,ENST00000393078,NM_001085.4;SERPINA3,synonymous_variant,p.=,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,synonymous_variant,p.=,ENST00000556968,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;SERPINA3,3_prime_UTR_variant,,ENST00000555820,;							LOW	378/1272		AACT_HUMAN			Transcript			.	ENSP00000376795		CCDS32150.1			1	
SEPT2	0	LGGM	GRCh37	2	242283304	242283304	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	84	4	.	.	ENST00000391973.2:c.834C>A	p.Thr278=	p.T278=	ENST00000391973	NM_006155.1	278	acC/acA	0	1		UPI000013585A	0		ENST00000360051		ENSG00000168385	7729		88			HGNC	p.T133T		SEPT2		SNV							ENST00000421717	protein_coding			PROSITE_profiles:PS51719,hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF67,Pfam_domain:PF00735,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540		T		A		1274/3613				C9JZI2_HUMAN,C9JT15_HUMAN,C9JSE7_HUMAN,C9JG93_HUMAN,C9JFT1_HUMAN,C9JB25_HUMAN,C9J938_HUMAN,C9J2Q4_HUMAN,C9IZU3_HUMAN,C9IY94_HUMAN,B5MCX3_HUMAN				SEPT2,synonymous_variant,p.=,ENST00000391973,NM_006155.1;SEPT2,synonymous_variant,p.=,ENST00000360051,NM_001008491.1;SEPT2,synonymous_variant,p.=,ENST00000402092,NM_001008492.1;SEPT2,synonymous_variant,p.=,ENST00000391971,NM_004404.3,NM_001282972.1;SEPT2,synonymous_variant,p.=,ENST00000407971,;SEPT2,synonymous_variant,p.=,ENST00000401990,NM_001282973.1;SEPT2,synonymous_variant,p.=,ENST00000421717,;SEPT2,downstream_gene_variant,,ENST00000428282,;SEPT2,downstream_gene_variant,,ENST00000466211,;SEPT2,downstream_gene_variant,,ENST00000464128,;SEPT2,downstream_gene_variant,,ENST00000494824,;SEPT2,non_coding_transcript_exon_variant,,ENST00000481500,;SEPT2,downstream_gene_variant,,ENST00000484167,;							LOW	834/1086		SEPT2_HUMAN			Transcript			.	ENSP00000353157		CCDS2548.1			1	
TRBV7-6	0	LGGM	GRCh37	7	142139445	142139445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	64	4	.	.	ENST00000390374.3:c.180G>T	p.Gln60His	p.Q60H	ENST00000390374		60	caG/caT	0	1	1	UPI0001AE7158	0		ENST00000390374		ENSG00000211727	12240		68			HGNC	p.Q60H		TRBV7-6		SNV							ENST00000390374	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF20,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		Q/H		A		225/392			deleterious(0)				YES	TRBV7-6,missense_variant,p.Gln60His,ENST00000390374,;TRBV6-7,downstream_gene_variant,,ENST00000390373,;							MODERATE	180/347					Transcript		probably_damaging(0.967)	.	ENSP00000374897					1	
DNAH11	0	LGGM	GRCh37	7	21727102	21727102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	95	4	.	.	ENST00000328843.6:c.5902C>A	p.Gln1968Lys	p.Q1968K	ENST00000328843		1968	Caa/Aaa	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		99			HGNC	p.Q1968K		DNAH11		SNV			1				ENST00000328843	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227,Low_complexity_(Seg):seg,SMART_domains:SM00382,Superfamily_domains:SSF52540		Q/K		A		5912/14167			deleterious(0.01)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Gln1968Lys,ENST00000328843,;DNAH11,missense_variant,p.Gln1961Lys,ENST00000409508,NM_001277115.1;							MODERATE	5881/13551					Transcript		benign(0.17)	.	ENSP00000475939		CCDS64602.1			1	
CCDC170	0	LGGM	GRCh37	6	151894411	151894411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	45	4	.	.	ENST00000239374.7:c.877C>A	p.Gln293Lys	p.Q293K	ENST00000239374	NM_025059.3	293	Cag/Aag	0	1	1	UPI000020D0BA	0	NA	ENST00000239374		ENSG00000120262	21177		49	1.345		HGNC	p.Q293K		CCDC170		SNV							ENST00000239374	protein_coding	getma.org/?cm=var&var=hg19,6,151894411,C,A&fts=all		hmmpanther:PTHR18863,hmmpanther:PTHR18863:SF4		Q/K		A	low	976/5293		getma.org/?cm=msa&ty=f&p=CF097_HUMAN&rb=2&re=713&var=Q293K	tolerated(0.11)				YES	CCDC170,missense_variant,p.Gln293Lys,ENST00000367290,;CCDC170,missense_variant,p.Gln293Lys,ENST00000239374,NM_025059.3;							MODERATE	877/2148	Q293K	CC170_HUMAN			Transcript		benign(0.012)	.	ENSP00000239374		CCDS43515.1			1	
WNK2	0	LGGM	GRCh37	9	96000527	96000527	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	40	4	.	.	ENST00000297954.4:c.1246G>T	p.Ala416Ser	p.A416S	ENST00000297954	NM_001282394.1	416	Gcc/Tcc	0	1	1	UPI0000236D76	0	getma.org/pdb.php?prot=WNK2_HUMAN&from=195&to=453&var=A416S	ENST00000297954		ENSG00000165238	14542		44	0.115		HGNC	p.A416S		WNK2		SNV							ENST00000297954	protein_coding	getma.org/?cm=var&var=hg19,9,96000527,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/S		T	neutral	1246/7138		getma.org/?cm=msa&ty=f&p=WNK2_HUMAN&rb=195&re=453&var=A416S					YES	WNK2,missense_variant,p.Ala412Ser,ENST00000432730,;WNK2,missense_variant,p.Ala416Ser,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Ala28Ser,ENST00000349097,;WNK2,missense_variant,p.Ala416Ser,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Ala20Ser,ENST00000411624,;WNK2,missense_variant,p.Ala402Ser,ENST00000395475,;WNK2,missense_variant,p.Ala28Ser,ENST00000427277,;WNK2,missense_variant,p.Ala416Ser,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000356055,;							MODERATE	1246/6894	A416S	WNK2_HUMAN			Transcript		unknown(0)	.	ENSP00000297954					1	
TTI1	0	LGGM	GRCh37	20	36641987	36641987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	77	4	.	.	ENST00000373448.2:c.232C>A	p.Leu78Ile	p.L78I	ENST00000373448	NM_014657.1	78	Ctc/Atc	0	1		UPI000012DB27	0	NA	ENST00000373447		ENSG00000101407	29029		81	-0.06		HGNC	p.L78I		TTI1		SNV							ENST00000373447	protein_coding	getma.org/?cm=var&var=hg19,20,36641987,G,T&fts=all		Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460		L/I		T	neutral	338/3825		getma.org/?cm=msa&ty=f&p=TTI1_HUMAN&rb=1&re=1068&var=L78I	tolerated(0.88)	D6W4K3_HUMAN				TTI1,missense_variant,p.Leu78Ile,ENST00000373448,NM_014657.1;TTI1,missense_variant,p.Leu78Ile,ENST00000373447,;TTI1,missense_variant,p.Leu78Ile,ENST00000449821,;TTI1,intron_variant,,ENST00000487362,;							MODERATE	232/3270	L78I	TTI1_HUMAN			Transcript		benign(0.005)	.	ENSP00000362546		CCDS13300.1			1	
MYO1E	0	LGGM	GRCh37	15	59464213	59464213	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	27	4	.	.	ENST00000288235.4:c.2363C>A	p.Pro788Gln	p.P788Q	ENST00000288235	NM_004998.3	788	cCa/cAa	0	1	1	UPI00001FE590	0	NA	ENST00000288235		ENSG00000157483	7599		31	2.25		HGNC	p.P788Q		MYO1E		SNV			1				ENST00000288235	protein_coding	getma.org/?cm=var&var=hg19,15,59464213,G,T&fts=all		Pfam_domain:PF06017,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF341		P/Q		T	medium	2763/6193		getma.org/?cm=msa&ty=f&p=MYO1E_HUMAN&rb=718&re=923&var=P788Q	tolerated(0.07)	Q4KMR3_HUMAN			YES	MYO1E,missense_variant,p.Pro788Gln,ENST00000288235,NM_004998.3;MYO1E,missense_variant,p.Pro279Gln,ENST00000560749,;MYO1E,missense_variant,p.Pro209Gln,ENST00000559269,;MIR2116,upstream_gene_variant,,ENST00000517221,;							MODERATE	2363/3327	P788Q	MYO1E_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000288235		CCDS32254.1			1	
DTWD2	0	LGGM	GRCh37	5	118264398	118264398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	96	4	.	.	ENST00000510708.1:c.431G>T	p.Arg144Leu	p.R144L	ENST00000510708	NM_173666.2	144	cGg/cTg	0	1	1	UPI00000738F2	0	NA	ENST00000510708		ENSG00000169570	19334		100	1.61		HGNC	p.R144L		DTWD2		SNV							ENST00000510708	protein_coding	getma.org/?cm=var&var=hg19,5,118264398,C,A&fts=all		hmmpanther:PTHR21392:SF0,hmmpanther:PTHR21392,Pfam_domain:PF03942		R/L		A	low	465/2307		getma.org/?cm=msa&ty=f&p=DTWD2_HUMAN&rb=65&re=259&var=R144L	tolerated(0.07)				YES	DTWD2,missense_variant,p.Arg78Leu,ENST00000304058,;DTWD2,missense_variant,p.Arg144Leu,ENST00000510708,NM_173666.2;DTWD2,intron_variant,,ENST00000515439,;DTWD2,intron_variant,,ENST00000506980,;							MODERATE	431/897	R144L	DTWD2_HUMAN			Transcript		benign(0.373)	.	ENSP00000425048		CCDS34216.1			1	
COL6A6	0	LGGM	GRCh37	3	130340675	130340675	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	55	5	.	.	ENST00000358511.6:c.4826G>A	p.Gly1609Glu	p.G1609E	ENST00000358511	NM_001102608.1	1609	gGa/gAa	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		60	4.64		HGNC	p.G1609E	rs752120392	COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130340675,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF01391		G/E		A	high	4857/9581	1.50E-05	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1570&re=1638&var=G1609E	deleterious(0)				YES	COL6A6,missense_variant,p.Gly1609Glu,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Gly1609Glu,ENST00000453409,;COL6A6,3_prime_UTR_variant,,ENST00000506143,;							MODERATE	4826/6792	G1609E	CO6A6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351310	8.28E-06	CCDS46911.1			1	
GRIA4	0	LGGM	GRCh37	11	105850307	105850307	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	60	5	.	.	ENST00000282499.5:c.2550C>A	p.Thr850=	p.T850=	ENST00000282499	NM_000829.3	850	acC/acA	0	1	1	UPI000013DCE6	0		ENST00000282499		ENSG00000152578	4574		65			HGNC	p.T850T		GRIA4		SNV							ENST00000282499	protein_coding			hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966		T		A		2996/5508				E9PJZ5_HUMAN			YES	GRIA4,synonymous_variant,p.=,ENST00000282499,NM_000829.3;GRIA4,synonymous_variant,p.=,ENST00000530497,;GRIA4,3_prime_UTR_variant,,ENST00000393127,NM_001077243.2;GRIA4,3_prime_UTR_variant,,ENST00000525187,;RNU6-277P,upstream_gene_variant,,ENST00000516272,;GRIA4,non_coding_transcript_exon_variant,,ENST00000533094,;							LOW	2550/2709		GRIA4_HUMAN			Transcript			.	ENSP00000282499		CCDS8333.1			1	
KIAA0513	0	LGGM	GRCh37	16	85100896	85100896	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	30	5	.	.	ENST00000566428.1:c.219C>T	p.Ser73=	p.S73=	ENST00000566428	NM_001286565.1	73	tcC/tcT	0	1		UPI0000139A26	0		ENST00000258180		ENSG00000135709	29058	8.68E-05	35			HGNC	p.S73S	rs749618108	KIAA0513		SNV							ENST00000538274	protein_coding			hmmpanther:PTHR13663,hmmpanther:PTHR13663:SF2,Low_complexity_(Seg):seg		S		T		439/7351								KIAA0513,synonymous_variant,p.=,ENST00000566428,NM_001286565.1;KIAA0513,synonymous_variant,p.=,ENST00000258180,NM_014732.2;KIAA0513,synonymous_variant,p.=,ENST00000567328,;KIAA0513,synonymous_variant,p.=,ENST00000538274,NM_001286566.1;							LOW	219/1236		K0513_HUMAN			Transcript			.	ENSP00000258180	8.24E-06	CCDS32499.1			1	
AC005609.1	0	LGGM	GRCh37	5	140242513	140242513	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	7	5	.	.	ENST00000502505.1:c.463C>T	p.Arg155Cys	p.R155C	ENST00000502505		155	Cgc/Tgc	0	1	1	UPI0000073A41	0		ENST00000502505		ENSG00000249034			12			Clone_based_ensembl_gene	p.R155C		AC005609.1		SNV							ENST00000502505	protein_coding					R/C		A		712/2884			deleterious_low_confidence(0)	Q8NB83_HUMAN			YES	AC005609.1,missense_variant,p.Arg155Cys,ENST00000502505,;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;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,;PCDHA14,upstream_gene_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;							MODERATE	463/579					Transcript		possibly_damaging(0.835)	.	ENSP00000424817					1	
AFF4	0	LGGM	GRCh37	5	132228001	132228001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	69	5	.	.	ENST00000265343.5:c.2492G>T	p.Arg831Leu	p.R831L	ENST00000265343	NM_014423.3	831	cGg/cTg	0	1	1	UPI000006F558	0	NA	ENST00000265343		ENSG00000072364	17869		74	1.7		HGNC	p.R831L		AFF4		SNV			1				ENST00000378595	protein_coding	getma.org/?cm=var&var=hg19,5,132228001,C,A&fts=all		Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF15		R/L		A	low	2872/9552		getma.org/?cm=msa&ty=f&p=AFF4_HUMAN&rb=2&re=1160&var=R831L	tolerated(0.15)	C9JCE0_HUMAN			YES	AFF4,missense_variant,p.Arg831Leu,ENST00000265343,NM_014423.3;AFF4,missense_variant,p.Arg831Leu,ENST00000378595,;AFF4,downstream_gene_variant,,ENST00000425658,;AFF4,downstream_gene_variant,,ENST00000478588,;AFF4,downstream_gene_variant,,ENST00000378593,;							MODERATE	2492/3492	R831L	AFF4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265343		CCDS4164.1			1	
OR4P4	0	LGGM	GRCh37	11	55406324	55406324	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	29	5	.	.	ENST00000314612.2:c.491T>C	p.Val164Ala	p.V164A	ENST00000314612	NM_001004124.1	164	gTa/gCa	0	1	1	UPI0000061E8A	0	NA	ENST00000314612		ENSG00000181927	15180		34	1.005		HGNC	p.V164A		OR4P4		SNV							ENST00000314612	protein_coding	getma.org/?cm=var&var=hg19,11,55406324,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/A		C	low	491/939		getma.org/?cm=msa&ty=f&p=OR4P4_HUMAN&rb=137&re=278&var=V164A	deleterious(0)				YES	OR4P4,missense_variant,p.Val164Ala,ENST00000314612,NM_001004124.1;							MODERATE	491/939	V164A	OR4P4_HUMAN			Transcript		benign(0.232)	.	ENSP00000324831		CCDS31504.1			1	
TMTC4	0	LGGM	GRCh37	13	101288895	101288895	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	64	6	.	.	ENST00000342624.5:c.1093C>T	p.Leu365Phe	p.L365F	ENST00000342624	NM_032813.2	365	Ctc/Ttc	0	1		UPI00005A9257	0	NA	ENST00000376234		ENSG00000125247	25904		70	3.18		HGNC	p.L365F		TMTC4		SNV							ENST00000342624	protein_coding	getma.org/?cm=var&var=hg19,13,101288895,G,A&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF374,Pfam_domain:PF08409		L/F		A	medium	1226/3483		getma.org/?cm=msa&ty=f&p=TMTC4_HUMAN&rb=290&re=369&var=L346F	deleterious(0)					TMTC4,missense_variant,p.Leu365Phe,ENST00000342624,NM_032813.2;TMTC4,missense_variant,p.Leu346Phe,ENST00000376234,NM_001079669.1;TMTC4,missense_variant,p.Leu235Phe,ENST00000328767,NM_001286453.1;TMTC4,non_coding_transcript_exon_variant,,ENST00000462211,;TMTC4,upstream_gene_variant,,ENST00000478272,;TMTC4,upstream_gene_variant,,ENST00000496511,;TMTC4,non_coding_transcript_exon_variant,,ENST00000489713,;							MODERATE	1036/2226	L346F	TMTC4_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000365408		CCDS41904.1			1	
DNAH9	0	LGGM	GRCh37	17	11809065	11809065	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	32	6	.	.	ENST00000262442.4:c.11688C>G	p.Ala3896=	p.A3896=	ENST00000262442	NM_001372.3	3896	gcC/gcG	0	1	1	UPI0000141BA2	0		ENST00000262442		ENSG00000007174	2953		38			HGNC	p.A3896A		DNAH9		SNV							ENST00000262442	protein_coding			hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028		A		G		11756/13750				Q92865_HUMAN			YES	DNAH9,synonymous_variant,p.=,ENST00000262442,NM_001372.3;DNAH9,synonymous_variant,p.=,ENST00000454412,;DNAH9,synonymous_variant,p.=,ENST00000608377,NM_004662.2;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,non_coding_transcript_exon_variant,,ENST00000581682,;							LOW	11688/13461		DYH9_HUMAN			Transcript			.	ENSP00000262442		CCDS11160.1			1	
SPOCD1	0	LGGM	GRCh37	1	32262233	32262233	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080204	H080204N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	39	6	.	.	ENST00000360482.2:c.2229T>G	p.Ile743Met	p.I743M	ENST00000360482	NM_144569.4	743	atT/atG	0	1	1	UPI000035E7DD	0	NA	ENST00000360482		ENSG00000134668	26338		45	2.25		HGNC	p.I743M		SPOCD1		SNV							ENST00000360482	protein_coding	getma.org/?cm=var&var=hg19,1,32262233,A,C&fts=all		hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914		I/M		C	medium	2359/3960		getma.org/?cm=msa&ty=f&p=SPOC1_HUMAN&rb=723&re=866&var=I743M	deleterious(0.02)	E9PMX0_HUMAN,E9PKC3_HUMAN			YES	SPOCD1,missense_variant,p.Ile743Met,ENST00000360482,NM_144569.4;SPOCD1,missense_variant,p.Ile743Met,ENST00000533231,NM_001281987.1;SPOCD1,missense_variant,p.Ile236Met,ENST00000257100,NM_001281988.1;SPOCD1,missense_variant,p.Ile180Met,ENST00000452755,;SPOCD1,3_prime_UTR_variant,,ENST00000373648,;SPOCD1,intron_variant,,ENST00000528579,;SPOCD1,downstream_gene_variant,,ENST00000529396,;SPOCD1,downstream_gene_variant,,ENST00000528791,;SPOCD1,downstream_gene_variant,,ENST00000525930,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000485944,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000468720,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000460061,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000531039,;SPOCD1,intron_variant,,ENST00000473361,;SPOCD1,intron_variant,,ENST00000532604,;							MODERATE	2229/3651	I743M	SPOC1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000353670		CCDS347.1			1	
KRT75	0	LGGM	GRCh37	12	52827958	52827958	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	26	6	.	.	ENST00000252245.5:c.131G>C	p.Ser44Thr	p.S44T	ENST00000252245	NM_004693.2	44	aGt/aCt	0	1	1	UPI000013CD4E	0	NA	ENST00000252245		ENSG00000170454	24431		32	1.355		HGNC	p.S44T		KRT75		SNV			1				ENST00000252245	protein_coding	getma.org/?cm=var&var=hg19,12,52827958,C,G&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF111,Low_complexity_(Seg):seg		S/T		G	low	352/2324		getma.org/?cm=msa&ty=f&p=K2C75_HUMAN&rb=1&re=147&var=S44T	tolerated(0.28)				YES	KRT75,missense_variant,p.Ser44Thr,ENST00000252245,NM_004693.2;							MODERATE	131/1656	S44T	K2C75_HUMAN			Transcript		benign(0.079)	.	ENSP00000252245		CCDS8827.1			1	
ANO10	0	LGGM	GRCh37	3	43618677	43618677	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	48	7	.	.	ENST00000292246.3:c.669C>A	p.Ile223=	p.I223=	ENST00000292246	NM_018075.3	223	atC/atA	0	1	1	UPI000020A59A	0		ENST00000292246		ENSG00000160746	25519		55			HGNC	p.I223I		ANO10		SNV			1				ENST00000292246	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF18		I		T		840/3212				C9JQC9_HUMAN,C9JPY2_HUMAN,C9JJS5_HUMAN,C9JA49_HUMAN,C9IZD0_HUMAN,C9IYD3_HUMAN			YES	ANO10,synonymous_variant,p.=,ENST00000292246,NM_018075.3;ANO10,synonymous_variant,p.=,ENST00000414522,NM_001204831.1;ANO10,synonymous_variant,p.=,ENST00000396091,NM_001204832.1;ANO10,synonymous_variant,p.=,ENST00000451430,NM_001204833.1;ANO10,synonymous_variant,p.=,ENST00000428472,;ANO10,intron_variant,,ENST00000350459,NM_001204834.1;ANO10,intron_variant,,ENST00000427171,;							LOW	669/1983		ANO10_HUMAN			Transcript			.	ENSP00000292246		CCDS2710.2			1	
NAT2	0	LGGM	GRCh37	8	18258023	18258023	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	59	8	.	.	ENST00000286479.3:c.510T>C	p.Ile170=	p.I170=	ENST00000286479	NM_000015.2	170	atT/atC	0	1	1	UPI000013DE51	0		ENST00000286479		ENSG00000156006	7646		67			HGNC	p.I40I		NAT2		SNV			1				ENST00000520116	protein_coding			hmmpanther:PTHR11786,hmmpanther:PTHR11786:SF6,Pfam_domain:PF00797,Superfamily_domains:SSF54001,Prints_domain:PR01543		I		C		617/1322				Q400I7_HUMAN,E7EWF9_HUMAN,A4Z6T7_HUMAN			YES	NAT2,synonymous_variant,p.=,ENST00000286479,NM_000015.2;NAT2,synonymous_variant,p.=,ENST00000520116,;							LOW	510/873		ARY2_HUMAN			Transcript			.	ENSP00000286479		CCDS6008.1			1	
ARIH2	0	LGGM	GRCh37	3	49017052	49017052	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	25	8	.	.	ENST00000356401.4:c.1099T>C	p.Phe367Leu	p.F367L	ENST00000356401	NM_006321.2	367	Ttc/Ctc	0	1	1	UPI0000125EDA	0	NA	ENST00000356401		ENSG00000177479	690		33	2.485		HGNC	p.F367L		ARIH2		SNV							ENST00000356401	protein_coding	getma.org/?cm=var&var=hg19,3,49017052,T,C&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF117		F/L		C	medium	1438/4933		getma.org/?cm=msa&ty=f&p=ARI2_HUMAN&rb=341&re=493&var=F367L	tolerated(0.07)	Q6IBL8_HUMAN,C9JZ71_HUMAN,C9JCL4_HUMAN,C9JBC5_HUMAN,C9JAU2_HUMAN			YES	ARIH2,missense_variant,p.Phe367Leu,ENST00000356401,NM_006321.2;ARIH2,missense_variant,p.Phe367Leu,ENST00000449376,;RP13-131K19.1,downstream_gene_variant,,ENST00000429681,;RP13-131K19.1,downstream_gene_variant,,ENST00000415982,;ARIH2,downstream_gene_variant,,ENST00000490095,;ARIH2,downstream_gene_variant,,ENST00000465217,;ARIH2,downstream_gene_variant,,ENST00000495761,;ARIH2,3_prime_UTR_variant,,ENST00000452385,;ARIH2,upstream_gene_variant,,ENST00000487891,;ARIH2,downstream_gene_variant,,ENST00000469038,;							MODERATE	1099/1482	F367L	ARI2_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000348769		CCDS2780.1			1	
CTNNA3	0	LGGM	GRCh37	10	68940080	68940080	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	35	8	.	.	ENST00000433211.2:c.1042A>G	p.Asn348Asp	p.N348D	ENST00000433211	NM_013266.2	348	Aac/Gac	0	1	1	UPI000004A0E6	0	getma.org/pdb.php?prot=CTNA3_HUMAN&from=328&to=856&var=N348D	ENST00000433211		ENSG00000183230	2511		43	2.125		HGNC	p.N348D		CTNNA3		SNV			1				ENST00000472963	protein_coding	getma.org/?cm=var&var=hg19,10,68940080,T,C&fts=all		hmmpanther:PTHR18914:SF21,hmmpanther:PTHR18914,Pfam_domain:PF01044		N/D		C	medium	1217/10675		getma.org/?cm=msa&ty=f&p=CTNA3_HUMAN&rb=328&re=856&var=N348D	tolerated(0.41)	Q5SW23_HUMAN,A6NKP0_HUMAN			YES	CTNNA3,missense_variant,p.Asn348Asp,ENST00000433211,NM_013266.2;CTNNA3,missense_variant,p.Asn348Asp,ENST00000373744,NM_001127384.1;CTNNA3,missense_variant,p.Asn348Asp,ENST00000545309,;CTNNA3,missense_variant,p.Asn42Asp,ENST00000494580,;							MODERATE	1042/2688	N348D	CTNA3_HUMAN			Transcript		benign(0.004)	.	ENSP00000389714		CCDS7269.1			1	
NUP210L	0	LGGM	GRCh37	1	154110634	154110634	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	73	9	.	.	ENST00000368559.3:c.798A>G	p.Val266=	p.V266=	ENST00000368559	NM_207308.2	266	gtA/gtG	0	1	1	UPI000023724F	0		ENST00000368559		ENSG00000143552	29915		82			HGNC	p.V266V		NUP210L		SNV							ENST00000368559	protein_coding			hmmpanther:PTHR23019:SF1,hmmpanther:PTHR23019		V		C		870/5889							YES	NUP210L,synonymous_variant,p.=,ENST00000368559,NM_207308.2;NUP210L,synonymous_variant,p.=,ENST00000271854,NM_001159484.1;							LOW	798/5667		P210L_HUMAN			Transcript			.	ENSP00000357547		CCDS41399.1			1	
FAT3	0	LGGM	GRCh37	11	92592426	92592426	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	96	9	.	.	ENST00000298047.6:c.11596C>T	p.Arg3866Ter	p.R3866*	ENST00000298047		3866	Cga/Tga	0	1	1	UPI000050B6C6	0	NA	ENST00000298047		ENSG00000165323	23112		105	0		HGNC	p.R3866X	COSM1357798,COSM1357797,COSM1357796	FAT3		SNV						1,1,1	ENST00000298047	protein_coding	getma.org/?cm=var&var=hg19,11,92592426,C,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00282,Superfamily_domains:SSF49899		R/*		T	NA	11613/19126		NA		E9PQ73_HUMAN			YES	FAT3,stop_gained,p.Arg3866Ter,ENST00000298047,;FAT3,stop_gained,p.Arg3866Ter,ENST00000409404,NM_001008781.2;FAT3,stop_gained,p.Arg3716Ter,ENST00000525166,;FAT3,stop_gained,p.Arg201Ter,ENST00000533797,;					1,1,1		HIGH	11596/13770	R3866*	FAT3_HUMAN			Transcript			.	ENSP00000298047					1	
BLTP2	0	LGGM	GRCh37	17	26955411	26955411	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	68	9	.	.	ENST00000528896.2:c.4466A>G	p.Lys1489Arg	p.K1489R	ENST00000528896	NM_014680.3	1489	aAg/aGg	0	1	1	UPI00004B4130	0	NA	ENST00000528896		ENSG00000007202	28960		77	1.63		HGNC	p.K1489R		KIAA0100		SNV							ENST00000005905	protein_coding	getma.org/?cm=var&var=hg19,17,26955411,T,C&fts=all		hmmpanther:PTHR15678		K/R		C	low	4541/7407		getma.org/?cm=msa&ty=f&p=K0100_HUMAN&rb=1361&re=1560&var=K1489R	deleterious(0.01)	Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,missense_variant,p.Lys1489Arg,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Lys1346Arg,ENST00000544884,;KIAA0100,missense_variant,p.Lys1346Arg,ENST00000389003,;KIAA0100,downstream_gene_variant,,ENST00000577261,;RP11-192H23.7,upstream_gene_variant,,ENST00000577814,;RP11-192H23.7,upstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000582417,;							MODERATE	4466/6708	K1489R	K0100_HUMAN			Transcript		benign(0.309)	.	ENSP00000436773		CCDS32595.1			1	
LAMC1	0	LGGM	GRCh37	1	183072560	183072560	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	74	10	.	.	ENST00000258341.4:c.516G>A	p.Trp172Ter	p.W172*	ENST00000258341	NM_002293.3	172	tgG/tgA	0	1	1	UPI000013CFC7	0	NA	ENST00000258341		ENSG00000135862	6492		84	0		HGNC	p.W172X		LAMC1		SNV							ENST00000258341	protein_coding	getma.org/?cm=var&var=hg19,1,183072560,G,A&fts=all		Gene3D:2.60.120.260,Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF228,SMART_domains:SM00136		W/*		A	NA	773/7889		NA		R4GNC7_HUMAN			YES	LAMC1,stop_gained,p.Trp172Ter,ENST00000258341,NM_002293.3;LAMC1,5_prime_UTR_variant,,ENST00000484114,;							HIGH	516/4830	W172*	LAMC1_HUMAN			Transcript			.	ENSP00000258341		CCDS1351.1			1	
SERPINC1	0	LGGM	GRCh37	1	173883951	173883951	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	89	11	.	.	ENST00000367698.3:c.148A>G	p.Asn50Asp	p.N50D	ENST00000367698	NM_000488.3	50	Aat/Gat	0	1	1	UPI000002C0C1	0	getma.org/pdb.php?prot=ANT3_HUMAN&from=1&to=84&var=N50D	ENST00000367698		ENSG00000117601	775		100	2.215		HGNC	p.N50D		SERPINC1		SNV			1				ENST00000367698	protein_coding	getma.org/?cm=var&var=hg19,1,173883951,T,C&fts=all		Superfamily_domains:SSF56574		N/D		C	medium	267/1594		getma.org/?cm=msa&ty=f&p=ANT3_HUMAN&rb=1&re=84&var=N50D	tolerated(0.08)	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN			YES	SERPINC1,missense_variant,p.Asn50Asp,ENST00000367698,NM_000488.3;SERPINC1,non_coding_transcript_exon_variant,,ENST00000494024,;SERPINC1,upstream_gene_variant,,ENST00000487183,;							MODERATE	148/1395	N50D	ANT3_HUMAN			Transcript		benign(0.003)	.	ENSP00000356671		CCDS1313.1			1	
SERPINC1	0	LGGM	GRCh37	1	173883945	173883945	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	91	11	.	.	ENST00000367698.3:c.154A>G	p.Met52Val	p.M52V	ENST00000367698	NM_000488.3	52	Atg/Gtg	0	1	1	UPI000002C0C1	0	getma.org/pdb.php?prot=ANT3_HUMAN&from=1&to=84&var=M52V	ENST00000367698		ENSG00000117601	775		102	2.125		HGNC	p.M52V		SERPINC1		SNV			1				ENST00000367698	protein_coding	getma.org/?cm=var&var=hg19,1,173883945,T,C&fts=all		Gene3D:3.30.497.10,Superfamily_domains:SSF56574		M/V		C	medium	273/1594		getma.org/?cm=msa&ty=f&p=ANT3_HUMAN&rb=1&re=84&var=M52V	tolerated(0.22)	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN			YES	SERPINC1,missense_variant,p.Met52Val,ENST00000367698,NM_000488.3;SERPINC1,non_coding_transcript_exon_variant,,ENST00000494024,;SERPINC1,upstream_gene_variant,,ENST00000487183,;							MODERATE	154/1395	M52V	ANT3_HUMAN			Transcript		benign(0.001)	.	ENSP00000356671		CCDS1313.1			1	
SLCO2A1	0	LGGM	GRCh37	3	133664083	133664083	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	81	11	.	.	ENST00000310926.4:c.1317G>A	p.Pro439=	p.P439=	ENST00000310926	NM_005630.2	439	ccG/ccA	0	1	1	UPI000013F0AD	0		ENST00000310926		ENSG00000174640	10955		92			HGNC	p.R376H	rs752097902	SLCO2A1		SNV			1				ENST00000481359	protein_coding			Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS51465,PROSITE_profiles:PS50850		P		T		1591/4223	1.52E-05			Q4LEJ9_HUMAN			YES	SLCO2A1,synonymous_variant,p.=,ENST00000310926,NM_005630.2;SLCO2A1,synonymous_variant,p.=,ENST00000493729,;SLCO2A1,missense_variant,p.Arg376His,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000462770,;SLCO2A1,downstream_gene_variant,,ENST00000477061,;							LOW	1317/1932		SO2A1_HUMAN			Transcript			.	ENSP00000311291	8.24E-06	CCDS3084.1			1	
TCFL5	0	LGGM	GRCh37	20	61488842	61488842	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	53	11	.	.	ENST00000335351.3:c.1143C>A	p.Ser381=	p.S381=	ENST00000335351	NM_006602.2	381	tcC/tcA	0	1	1	UPI0000206389	0		ENST00000335351		ENSG00000101190	11646		64			HGNC	p.S333S		TCFL5		SNV							ENST00000217162	protein_coding			hmmpanther:PTHR15402,hmmpanther:PTHR15402:SF2		S		T		1236/2456							YES	TCFL5,synonymous_variant,p.=,ENST00000335351,NM_006602.2;TCFL5,synonymous_variant,p.=,ENST00000217162,;							LOW	1143/1503		TCFL5_HUMAN			Transcript			.	ENSP00000334294		CCDS13506.1			1	
NBEA	0	LGGM	GRCh37	13	35697633	35697633	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	79	11	.	.	ENST00000400445.3:c.2258T>C	p.Leu753Ser	p.L753S	ENST00000400445	NM_015678.4	753	tTa/tCa	0	1	1	UPI00004FF92F	0	NA	ENST00000400445		ENSG00000172915	7648		90	2.645		HGNC	p.L753S		NBEA		SNV							ENST00000540320	protein_coding	getma.org/?cm=var&var=hg19,13,35697633,T,C&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Superfamily_domains:SSF48371		L/S		C	medium	2792/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=604&re=803&var=L753S	deleterious(0)				YES	NBEA,missense_variant,p.Leu753Ser,ENST00000540320,;NBEA,missense_variant,p.Leu753Ser,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Leu753Ser,ENST00000310336,;NBEA,missense_variant,p.Leu753Ser,ENST00000379939,;							MODERATE	2258/8841	L753S	NBEA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383295		CCDS45026.1			1	
CLK4	0	LGGM	GRCh37	5	178040635	178040635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	48	11	.	.	ENST00000316308.4:c.665G>T	p.Cys222Phe	p.C222F	ENST00000316308	NM_020666.2	222	tGt/tTt	0	1	1	UPI000007065C	0	getma.org/pdb.php?prot=CLK4_HUMAN&from=159&to=475&var=C222F	ENST00000316308		ENSG00000113240	13659		59	1.98		HGNC	p.C222F		CLK4		SNV							ENST00000316308	protein_coding	getma.org/?cm=var&var=hg19,5,178040635,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24058:SF25,hmmpanther:PTHR24058,PROSITE_profiles:PS50011		C/F		A	medium	834/2568		getma.org/?cm=msa&ty=f&p=CLK4_HUMAN&rb=159&re=475&var=C222F	deleterious(0)	Q68D95_HUMAN			YES	CLK4,missense_variant,p.Cys222Phe,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,;							MODERATE	665/1446	C222F	CLK4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000316948		CCDS4437.1			1	
RPRD2	0	LGGM	GRCh37	1	150443883	150443883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080204	H080204N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	106	12	.	.	ENST00000369068.4:c.2459A>G	p.Lys820Arg	p.K820R	ENST00000369068	NM_015203.3	820	aAg/aGg	0	1	1	UPI00001D7CA8	0	NA	ENST00000369068		ENSG00000163125	29039		118	0.805		HGNC	p.K794R		RPRD2		SNV							ENST00000539519	protein_coding	getma.org/?cm=var&var=hg19,1,150443883,A,G&fts=all		hmmpanther:PTHR12460,hmmpanther:PTHR12460:SF0		K/R		G	low	2463/4612		getma.org/?cm=msa&ty=f&p=RPRD2_HUMAN&rb=744&re=1459&var=K820R	deleterious_low_confidence(0)				YES	RPRD2,missense_variant,p.Lys794Arg,ENST00000401000,;RPRD2,missense_variant,p.Lys820Arg,ENST00000369068,NM_015203.3;RPRD2,missense_variant,p.Lys794Arg,ENST00000539519,;RPRD2,non_coding_transcript_exon_variant,,ENST00000492220,;							MODERATE	2459/4386	K820R	RPRD2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000358064		CCDS44216.1			1	
HSPG2	0	LGGM	GRCh37	1	22166480	22166480	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	110	12	.	.	ENST00000374695.3:c.9544A>C	p.Thr3182Pro	p.T3182P	ENST00000374695	NM_005529.5	3182	Act/Cct	0	1	1	UPI0000212778	0	getma.org/pdb.php?prot=PGBM_HUMAN&from=3112&to=3202&var=T3182P	ENST00000374695		ENSG00000142798	5273		122	2.545		HGNC	p.T3182P		HSPG2		SNV			1				ENST00000374695	protein_coding	getma.org/?cm=var&var=hg19,1,22166480,T,G&fts=all		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		T/P		G	medium	9624/14327		getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=3112&re=3202&var=T3182P		B6EU51_HUMAN			YES	HSPG2,missense_variant,p.Thr3182Pro,ENST00000374695,NM_005529.5;HSPG2,upstream_gene_variant,,ENST00000426143,;HSPG2,upstream_gene_variant,,ENST00000374676,;HSPG2,upstream_gene_variant,,ENST00000471322,;							MODERATE	9544/13176	T3182P	PGBM_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000363827		CCDS30625.1			1	
PLCL1	0	LGGM	GRCh37	2	198949192	198949192	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080204	H080204N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	89	15	.	.	ENST00000428675.1:c.951T>C	p.Tyr317=	p.Y317=	ENST00000428675	NM_006226.3	317	taT/taC	0	1	1	UPI000165BCF5	0		ENST00000428675		ENSG00000115896	9063		104			HGNC	p.Y317Y		PLCL1		SNV							ENST00000428675	protein_coding			hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336,Gene3D:1.10.238.10,Pfam_domain:PF09279,Superfamily_domains:SSF47473		Y		C		1349/5125							YES	PLCL1,synonymous_variant,p.=,ENST00000428675,NM_006226.3;PLCL1,synonymous_variant,p.=,ENST00000437704,;PLCL1,synonymous_variant,p.=,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;							LOW	951/3288		PLCL1_HUMAN			Transcript			.	ENSP00000402861		CCDS2326.2			1	
RAD23B	0	LGGM	GRCh37	9	110068677	110068677	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080204	H080204N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	73	16	.	.	ENST00000358015.3:c.246A>G	p.Thr82=	p.T82=	ENST00000358015	NM_002874.4	82	acA/acG	0	1	1	UPI0000132F6C	0		ENST00000358015		ENSG00000119318	9813		89			HGNC	p.T82T		RAD23B		SNV							ENST00000358015	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF2,TIGRFAM_domain:TIGR00601,Superfamily_domains:SSF54236		T		G		597/4119				Q5W0S5_HUMAN			YES	RAD23B,synonymous_variant,p.=,ENST00000358015,NM_002874.4,NM_001244713.1;RAD23B,synonymous_variant,p.=,ENST00000416373,NM_001244724.1;RAD23B,synonymous_variant,p.=,ENST00000419616,;RAD23B,synonymous_variant,p.=,ENST00000442587,;RAD23B,upstream_gene_variant,,ENST00000457811,;							LOW	246/1230		RD23B_HUMAN			Transcript			.	ENSP00000350708		CCDS6769.1			1	
NBR1	0	LGGM	GRCh37	17	41341727	41341727	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080204	H080204N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	179	18	.	.	ENST00000422280.1:c.603A>C	p.Glu201Asp	p.E201D	ENST00000422280	NM_031858.2	201	gaA/gaC	0	1		UPI0000161BF3	0	NA	ENST00000341165		ENSG00000188554	6746		197	1.95		HGNC	p.E201D		NBR1		SNV							ENST00000590996	protein_coding	getma.org/?cm=var&var=hg19,17,41341727,A,C&fts=all		hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1		E/D		C	medium	743/4656		getma.org/?cm=msa&ty=f&p=NBR1_HUMAN&rb=86&re=211&var=E201D	tolerated(0.17)	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN				NBR1,missense_variant,p.Glu201Asp,ENST00000422280,NM_031858.2;NBR1,missense_variant,p.Glu201Asp,ENST00000341165,NM_031862.2;NBR1,missense_variant,p.Glu201Asp,ENST00000389312,;NBR1,missense_variant,p.Glu201Asp,ENST00000590996,NM_005899.3;NBR1,missense_variant,p.Glu201Asp,ENST00000589872,;NBR1,missense_variant,p.Glu180Asp,ENST00000542611,;NBR1,upstream_gene_variant,,ENST00000585505,;							MODERATE	603/2901	E201D	NBR1_HUMAN			Transcript		benign(0.003)	.	ENSP00000343479		CCDS45694.1			1	
IGLV2-11	0	LGGM	GRCh37	22	23135200	23135200	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080204	H080204N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	148	21	.	.	ENST00000390314.2:c.62C>T	p.Ser21Phe	p.S21F	ENST00000390314		21	tCt/tTt	0	1	1	UPI000173A2CF	0		ENST00000390314		ENSG00000211668	5887		169			HGNC	p.S21F		IGLV2-11		SNV							ENST00000390314	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF138,hmmpanther:PTHR23267,Pfam_domain:PF07686		S/F		T		104/400			deleterious_low_confidence(0)	Q5NV84_HUMAN			YES	IGLV2-11,missense_variant,p.Ser21Phe,ENST00000390314,;D86998.1,downstream_gene_variant,,ENST00000385098,;							MODERATE	62/358					Transcript		probably_damaging(0.965)	.	ENSP00000374849					1	
ZNF808	0	LGGM	GRCh37	19	53056779	53056779	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080204	H080204N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	213	21	.	.	ENST00000359798.4:c.610A>G	p.Ile204Val	p.I204V	ENST00000359798	NM_001039886.3	204	Att/Gtt	0	1	1	UPI000041AA80	0	NA	ENST00000359798		ENSG00000198482	33230		234	1.24		HGNC	p.I135V		ZNF808		SNV							ENST00000487863	protein_coding	getma.org/?cm=var&var=hg19,19,53056779,A,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276		I/V		G	low	790/3600		getma.org/?cm=msa&ty=f&p=ZN808_HUMAN&rb=65&re=244&var=I204V	tolerated(0.3)	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN			YES	ZNF808,missense_variant,p.Ile204Val,ENST00000359798,NM_001039886.3;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Ile135Val,ENST00000487863,;							MODERATE	610/2712	I204V	ZN808_HUMAN			Transcript		benign(0.102)	.	ENSP00000352846		CCDS46167.1			1	
PTPRT	0	LGGM	GRCh37	20	40827944	40827944	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080204	H080204N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080204N.bam, H080204T.bam	Illumina HiSeq	157	21	.	.	ENST00000373198.4:c.2484C>T	p.Thr828=	p.T828=	ENST00000373198	NM_133170.3	828	acC/acT	0	1	1	UPI0000246C03	0		ENST00000373187		ENSG00000196090	9682		178			HGNC	p.T799T		PTPRT		SNV							ENST00000373184	protein_coding			hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208		T		A		2427/12453							YES	PTPRT,synonymous_variant,p.=,ENST00000373198,NM_133170.3;PTPRT,synonymous_variant,p.=,ENST00000373201,;PTPRT,synonymous_variant,p.=,ENST00000373193,NM_007050.5;PTPRT,synonymous_variant,p.=,ENST00000373190,;PTPRT,synonymous_variant,p.=,ENST00000373184,;PTPRT,synonymous_variant,p.=,ENST00000356100,;PTPRT,synonymous_variant,p.=,ENST00000373187,;							LOW	2427/4326		PTPRT_HUMAN			Transcript			.	ENSP00000362283		CCDS42874.1			1	
COL7A1	0	LGGM	GRCh37	3	48609472	48609472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	8	2	.	.	ENST00000328333.8:c.7030G>T	p.Ala2344Ser	p.A2344S	ENST00000328333	NM_000094.3	2344	Gct/Tct	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		10	1.225		HGNC	p.A2344S		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48609472,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg		A/S		A	low	7138/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=2317&re=2374&var=A2344S					YES	COL7A1,missense_variant,p.Ala2344Ser,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Ala2312Ser,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000474432,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000462475,;							MODERATE	7030/8835	A2344S	CO7A1_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000332371		CCDS2773.1			1	
TEPP	0	LGGM	GRCh37	16	58018668	58018668	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	4	2	.	.	ENST00000290871.5:c.579C>A	p.Phe193Leu	p.F193L	ENST00000290871	NM_199046.2	193	ttC/ttA	0	1		UPI00001D7874	0	NA	ENST00000441824		ENSG00000159648	33745		6	1.92		HGNC	p.F193L		TEPP		SNV							ENST00000290871	protein_coding	getma.org/?cm=var&var=hg19,16,58018668,C,A&fts=all				F/L		A	medium	616/998		getma.org/?cm=msa&ty=f&p=TEPP_HUMAN&rb=1&re=269&var=F193L	tolerated(0.08)					TEPP,missense_variant,p.Phe193Leu,ENST00000290871,NM_199046.2;TEPP,missense_variant,p.Phe193Leu,ENST00000441824,NM_199456.2;TEPP,non_coding_transcript_exon_variant,,ENST00000569996,;TEPP,upstream_gene_variant,,ENST00000562915,;							MODERATE	579/816	F193L	TEPP_HUMAN			Transcript		benign(0.294)	.	ENSP00000401917		CCDS45496.1			1	
GLIPR2	0	LGGM	GRCh37	9	36148588	36148588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	15	2	.	.	ENST00000377960.4:c.167C>A	p.Pro56Gln	p.P56Q	ENST00000377960	NM_022343.2	56	cCg/cAg	0	1	1	UPI000006DF50	0	getma.org/pdb.php?prot=GAPR1_HUMAN&from=14&to=134&var=P56Q	ENST00000377960		ENSG00000122694	18007		17	1.09		HGNC	p.P56Q		GLIPR2		SNV							ENST00000377959	protein_coding	getma.org/?cm=var&var=hg19,9,36148588,C,A&fts=all		hmmpanther:PTHR10334:SF189,hmmpanther:PTHR10334,Pfam_domain:PF00188,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797		P/Q		A	low	201/1890		getma.org/?cm=msa&ty=f&p=GAPR1_HUMAN&rb=14&re=134&var=P56Q	tolerated(0.09)	D3DRP5_HUMAN			YES	GLIPR2,missense_variant,p.Pro56Gln,ENST00000377960,NM_022343.2,NM_001287013.1,NM_001287014.1;GLIPR2,missense_variant,p.Pro56Gln,ENST00000377959,NM_001287010.1;GLIPR2,3_prime_UTR_variant,,ENST00000396613,;GLIPR2,non_coding_transcript_exon_variant,,ENST00000474050,;							MODERATE	167/465	P56Q	GAPR1_HUMAN			Transcript		benign(0.366)	.	ENSP00000367196		CCDS6598.1			1	
C9orf173	0	LGGM	GRCh37	9	140147201	140147201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	6	2	.	.	ENST00000388931.3:c.580C>A	p.Pro194Thr	p.P194T	ENST00000388931	NM_001004353.3	194	Cct/Act	0	1	1	UPI0000F095C7	0	NA	ENST00000388931		ENSG00000197768	37285		8	1.59		HGNC	p.P194T		C9orf173		SNV							ENST00000412566	protein_coding	getma.org/?cm=var&var=hg19,9,140147201,C,A&fts=all				P/T		A	low	606/1206		getma.org/?cm=msa&ty=f&p=CI173_HUMAN&rb=1&re=387&var=P194T	deleterious(0.02)				YES	C9orf173,missense_variant,p.Pro194Thr,ENST00000388931,NM_001004353.3,NM_001256701.1,NM_001256699.1,NM_001256700.1;C9orf173,missense_variant,p.Pro194Thr,ENST00000412566,;NELFB,upstream_gene_variant,,ENST00000343053,NM_015456.3;FAM166A,upstream_gene_variant,,ENST00000344774,NM_001001710.1;FAM166A,upstream_gene_variant,,ENST00000388932,;FAM166A,upstream_gene_variant,,ENST00000484720,;FAM166A,upstream_gene_variant,,ENST00000471784,;							MODERATE	580/1161	P194T	CI173_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000373583		CCDS59156.1			1	
HARS	0	LGGM	GRCh37	5	140070873	140070873	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	17	2	.	.	ENST00000504156.1:c.17C>A	p.Ala6Glu	p.A6E	ENST00000504156	NM_002109.4	6	gCg/gAg	0	1	1	UPI00001364CE	0	getma.org/pdb.php?prot=SYHC_HUMAN&from=3&to=59&var=A6E	ENST00000504156		ENSG00000170445	4816		19	1.01		HGNC	p.A6E		HARS		SNV			1				ENST00000431330	protein_coding	getma.org/?cm=var&var=hg19,5,140070873,G,T&fts=all		Gene3D:1.10.287.10,PROSITE_profiles:PS51185,hmmpanther:PTHR11476,hmmpanther:PTHR11476:SF3,Superfamily_domains:SSF47060		A/E		T	low	737/3334		getma.org/?cm=msa&ty=f&p=SYHC_HUMAN&rb=3&re=59&var=A6E	tolerated(0.36)	D6RF05_HUMAN,B3KWE1_HUMAN			YES	HARS,missense_variant,p.Ala6Glu,ENST00000504156,NM_002109.4;HARS,missense_variant,p.Ala6Glu,ENST00000457527,NM_001258041.1;HARS,missense_variant,p.Ala6Glu,ENST00000438307,NM_001258040.1;HARS,missense_variant,p.Ala6Glu,ENST00000307633,NM_001258042.1;HARS,missense_variant,p.Ala6Glu,ENST00000431330,;HARS,missense_variant,p.Ala6Glu,ENST00000415192,;HARS,missense_variant,p.Ala6Glu,ENST00000507746,;HARS,5_prime_UTR_variant,,ENST00000448240,;HARS2,upstream_gene_variant,,ENST00000230771,NM_012208.3,NM_001278731.1;HARS2,upstream_gene_variant,,ENST00000435019,;HARS2,upstream_gene_variant,,ENST00000437649,NM_001278732.1;HARS2,upstream_gene_variant,,ENST00000432671,;HARS2,upstream_gene_variant,,ENST00000508522,;HARS2,upstream_gene_variant,,ENST00000448069,;HARS2,upstream_gene_variant,,ENST00000509299,;HARS2,upstream_gene_variant,,ENST00000503873,;HARS2,upstream_gene_variant,,ENST00000502303,;HARS,missense_variant,p.Ala6Glu,ENST00000512396,;HARS,non_coding_transcript_exon_variant,,ENST00000506579,;HARS,non_coding_transcript_exon_variant,,ENST00000518126,;HARS,non_coding_transcript_exon_variant,,ENST00000502888,;HARS2,upstream_gene_variant,,ENST00000510104,;HARS2,upstream_gene_variant,,ENST00000513688,;HARS2,upstream_gene_variant,,ENST00000511913,;HARS2,upstream_gene_variant,,ENST00000506318,;HARS2,upstream_gene_variant,,ENST00000520095,;HARS2,upstream_gene_variant,,ENST00000513912,;							MODERATE	17/1530	A6E	SYHC_HUMAN			Transcript		benign(0.001)	.	ENSP00000425634		CCDS4237.1			1	
EXOC6B	0	LGGM	GRCh37	2	73052938	73052938	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	28	3	.	.	ENST00000272427.6:c.102G>A	p.Gly34=	p.G34=	ENST00000272427	NM_015189.1	34	ggG/ggA	0	1	1	UPI000046995C	0		ENST00000272427		ENSG00000144036	17085		31			HGNC	p.G34G		EXOC6B		SNV							ENST00000410112	protein_coding			PIRSF_domain:PIRSF025007,hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3		G		T		233/5918				Q9H8D6_HUMAN			YES	EXOC6B,synonymous_variant,p.=,ENST00000272427,NM_015189.1;EXOC6B,synonymous_variant,p.=,ENST00000410104,;EXOC6B,synonymous_variant,p.=,ENST00000410112,;							LOW	102/2436		EXC6B_HUMAN			Transcript			.	ENSP00000272427		CCDS46333.1			1	
NOS2	0	LGGM	GRCh37	17	26086020	26086020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	35	3	.	.	ENST00000313735.6:c.3241G>T	p.Val1081Phe	p.V1081F	ENST00000313735	NM_000625.4	1081	Gtt/Ttt	0	1	1	UPI000011D645	0	getma.org/pdb.php?prot=NOS2_HUMAN&from=979&to=1093&var=V1081F	ENST00000313735		ENSG00000007171	7873		38	3.945		HGNC	p.V1081F		NOS2		SNV			1				ENST00000313735	protein_coding	getma.org/?cm=var&var=hg19,17,26086020,C,A&fts=all		hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,Gene3D:3.40.50.80,Pfam_domain:PF00175,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF52343,Prints_domain:PR00371		V/F		A	high	3475/4176		getma.org/?cm=msa&ty=f&p=NOS2_HUMAN&rb=979&re=1093&var=V1081F	deleterious(0.01)	Q9UM94_HUMAN			YES	NOS2,missense_variant,p.Val1081Phe,ENST00000313735,NM_000625.4;RP1-66C13.3,downstream_gene_variant,,ENST00000580112,;							MODERATE	3241/3462	V1081F	NOS2_HUMAN			Transcript		benign(0.247)	.	ENSP00000327251		CCDS11223.1			1	
RELN	0	LGGM	GRCh37	7	103155836	103155836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	27	3	.	.	ENST00000428762.1:c.7915C>A	p.Arg2639Ser	p.R2639S	ENST00000428762	NM_005045.3	2639	Cgc/Agc	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=2572&to=2771&var=R2639S	ENST00000428762		ENSG00000189056	9957		30	2.265		HGNC	p.R2639S		RELN		SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103155836,G,T&fts=all		hmmpanther:PTHR11841,Superfamily_domains:SSF50939		R/S		T	medium	8075/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=2572&re=2771&var=R2639S	deleterious(0)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Arg2639Ser,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Arg2639Ser,ENST00000424685,;RELN,missense_variant,p.Arg2639Ser,ENST00000343529,NM_173054.2;CTB-107G13.1,downstream_gene_variant,,ENST00000422488,;							MODERATE	7915/10383	R2639S	RELN_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000392423		CCDS47680.1			1	
PQLC1	0	LGGM	GRCh37	18	77710805	77710805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	6	3	.	.	ENST00000397778.2:c.122G>T	p.Arg41Leu	p.R41L	ENST00000397778	NM_025078.4	41	cGc/cTc	0	1	1	UPI0000073855	0	NA	ENST00000397778		ENSG00000122490	26188		9	1.2		HGNC	p.R41L		PQLC1		SNV							ENST00000589452	protein_coding	getma.org/?cm=var&var=hg19,18,77710805,C,A&fts=all		Pfam_domain:PF04193,hmmpanther:PTHR14856,hmmpanther:PTHR14856:SF10,SMART_domains:SM00679		R/L		A	low	305/2555		getma.org/?cm=msa&ty=f&p=PQLC1_HUMAN&rb=17&re=77&var=R41L	deleterious(0.03)	K7ERD3_HUMAN,B3KW14_HUMAN			YES	PQLC1,missense_variant,p.Arg41Leu,ENST00000397778,NM_025078.4;PQLC1,missense_variant,p.Arg41Leu,ENST00000357575,NM_001146345.1;PQLC1,missense_variant,p.Arg41Leu,ENST00000590381,NM_001146343.1;PQLC1,missense_variant,p.Arg21Leu,ENST00000478144,;PQLC1,5_prime_UTR_variant,,ENST00000409073,;PQLC1,missense_variant,p.Arg5Leu,ENST00000351365,;PQLC1,missense_variant,p.Arg41Leu,ENST00000474967,;PQLC1,missense_variant,p.Arg41Leu,ENST00000591964,;PQLC1,missense_variant,p.Arg41Leu,ENST00000593030,;PQLC1,missense_variant,p.Arg41Leu,ENST00000589452,;							MODERATE	122/816	R41L	PQLC1_HUMAN			Transcript		benign(0.235)	.	ENSP00000380880		CCDS12020.1			1	
TGM4	0	LGGM	GRCh37	3	44945479	44945479	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	44	3	.	.	ENST00000296125.4:c.1075G>A	p.Gly359Ser	p.G359S	ENST00000296125	NM_003241.3	359	Ggt/Agt	0	1	1	UPI0000136CCD	0	getma.org/pdb.php?prot=TGM4_HUMAN&from=352&to=551&var=G359S	ENST00000296125		ENSG00000163810	11780		47	3.225		HGNC	p.G359S		TGM4		SNV							ENST00000296125	protein_coding	getma.org/?cm=var&var=hg19,3,44945479,G,A&fts=all		hmmpanther:PTHR11590:SF11,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001		G/S		A	medium	1143/3388		getma.org/?cm=msa&ty=f&p=TGM4_HUMAN&rb=352&re=551&var=G359S	deleterious(0.01)	Q9UBL5_HUMAN			YES	TGM4,missense_variant,p.Gly359Ser,ENST00000296125,NM_003241.3;RP11-272D20.2,downstream_gene_variant,,ENST00000427258,;TGM4,splice_region_variant,,ENST00000459830,;TGM4,downstream_gene_variant,,ENST00000422219,;							MODERATE	1075/2055	G359S	TGM4_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000296125		CCDS2723.1			1	
QPRT	0	LGGM	GRCh37	16	29706286	29706286	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	18	3	.	.	ENST00000395384.4:c.315C>A	p.Leu105=	p.L105=	ENST00000395384	NM_014298.3	105	ctC/ctA	0	1	1	UPI000013C78C	0		ENST00000395384		ENSG00000103485	9755		21			HGNC	p.S144X		QPRT		SNV							ENST00000449759	protein_coding			Superfamily_domains:SSF54675,PIRSF_domain:PIRSF006250,Pfam_domain:PF02749,Gene3D:3.90.1170.20,TIGRFAM_domain:TIGR00078,hmmpanther:PTHR32179:SF5,hmmpanther:PTHR32179		L		A		476/2343							YES	QPRT,synonymous_variant,p.=,ENST00000395384,NM_014298.3;QPRT,synonymous_variant,p.=,ENST00000449759,;QPRT,intron_variant,,ENST00000562473,;QPRT,intron_variant,,ENST00000219771,;QPRT,upstream_gene_variant,,ENST00000564967,;							LOW	315/894		NADC_HUMAN			Transcript			.	ENSP00000378782		CCDS10651.1			1	
ACAP1	0	LGGM	GRCh37	17	7245370	7245370	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	35	3	.	.	ENST00000158762.3:c.215C>A	p.Pro72Gln	p.P72Q	ENST00000158762	NM_014716.3	72	cCa/cAa	0	1	1	UPI000012749A	0	NA	ENST00000158762		ENSG00000072818	16467		38	1.1		HGNC	p.P72Q		ACAP1		SNV							ENST00000158762	protein_coding	getma.org/?cm=var&var=hg19,17,7245370,C,A&fts=all		Gene3D:1.20.1270.60,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF197,Superfamily_domains:SSF103657		P/Q		A	low	421/2512		getma.org/?cm=msa&ty=f&p=ACAP1_HUMAN&rb=1&re=226&var=P72Q	tolerated(0.42)	I3L2Z4_HUMAN,I3L268_HUMAN,I3L0K9_HUMAN			YES	ACAP1,missense_variant,p.Pro72Gln,ENST00000158762,NM_014716.3;ACAP1,5_prime_UTR_variant,,ENST00000570457,;ACAP1,5_prime_UTR_variant,,ENST00000575425,;ACAP1,upstream_gene_variant,,ENST00000573893,;ACAP1,non_coding_transcript_exon_variant,,ENST00000576628,;ACAP1,upstream_gene_variant,,ENST00000570439,;ACAP1,upstream_gene_variant,,ENST00000571220,;							MODERATE	215/2223	P72Q	ACAP1_HUMAN			Transcript		benign(0.07)	.	ENSP00000158762		CCDS11101.1			1	
HUNK	0	LGGM	GRCh37	21	33296783	33296783	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	47	3	.	.	ENST00000270112.2:c.265G>T	p.Ala89Ser	p.A89S	ENST00000270112	NM_014586.1	89	Gcc/Tcc	0	1	1	UPI0000035B66	0	getma.org/pdb.php?prot=HUNK_HUMAN&from=63&to=320&var=A89S	ENST00000270112		ENSG00000142149	13326		50	4.125		HGNC	p.A89S		HUNK		SNV							ENST00000270112	protein_coding	getma.org/?cm=var&var=hg19,21,33296783,G,T&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,PROSITE_patterns:PS00107,hmmpanther:PTHR24343:SF152,hmmpanther:PTHR24343,PROSITE_profiles:PS50011		A/S		T	high	625/7385		getma.org/?cm=msa&ty=f&p=HUNK_HUMAN&rb=63&re=320&var=A89S	deleterious(0.01)				YES	HUNK,missense_variant,p.Ala89Ser,ENST00000270112,NM_014586.1;HUNK,upstream_gene_variant,,ENST00000430354,;							MODERATE	265/2145	A89S	HUNK_HUMAN			Transcript		possibly_damaging(0.502)	.	ENSP00000270112		CCDS13610.1			1	
MYBPC2	0	LGGM	GRCh37	19	50962482	50962482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	17	3	.	.	ENST00000357701.5:c.2710C>A	p.Arg904Ser	p.R904S	ENST00000357701	NM_004533.3	904	Cgc/Agc	0	1	1	UPI000013C628	0	getma.org/pdb.php?prot=MYPC2_HUMAN&from=843&to=929&var=R904S	ENST00000357701		ENSG00000086967	7550		20	3.2		HGNC	p.R904S		MYBPC2		SNV							ENST00000357701	protein_coding	getma.org/?cm=var&var=hg19,19,50962482,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF56,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/S		A	medium	2761/3593		getma.org/?cm=msa&ty=f&p=MYPC2_HUMAN&rb=843&re=929&var=R904S	deleterious(0)				YES	MYBPC2,missense_variant,p.Arg904Ser,ENST00000357701,NM_004533.3;							MODERATE	2710/3426	R904S	MYPC2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000350332		CCDS46152.1			1	
EDEM1	0	LGGM	GRCh37	3	5246774	5246774	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	46	3	.	.	ENST00000256497.4:c.1065G>A	p.Thr355=	p.T355=	ENST00000256497	NM_014674.2	355	acG/acA	0	1	1	UPI0000040633	0		ENST00000256497		ENSG00000134109	18967		49			HGNC	p.T160T	rs754500224	EDEM1	6.07E-05	SNV							ENST00000445686	protein_coding			hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF25,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225		T		A		1198/6146	3.00E-05						YES	EDEM1,synonymous_variant,p.=,ENST00000256497,NM_014674.2;EDEM1,synonymous_variant,p.=,ENST00000445686,;EDEM1,3_prime_UTR_variant,,ENST00000434243,;EDEM1,non_coding_transcript_exon_variant,,ENST00000465369,;EDEM1,downstream_gene_variant,,ENST00000492751,;							LOW	1065/1974		EDEM1_HUMAN			Transcript			.	ENSP00000256497	2.47E-05	CCDS33686.1			1	
PREX2	0	LGGM	GRCh37	8	69104656	69104656	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	43	3	.	.	ENST00000288368.4:c.4500C>T	p.Asn1500=	p.N1500=	ENST00000288368	NM_024870.2	1500	aaC/aaT	0	1	1	UPI0000375435	0		ENST00000288368		ENSG00000046889	22950		46			HGNC	p.N1500N		PREX2		SNV							ENST00000288368	protein_coding			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,Low_complexity_(Seg):seg		N		T		4777/10750				Q56UR8_HUMAN			YES	PREX2,synonymous_variant,p.=,ENST00000288368,NM_024870.2,NM_025170.4;PREX2,non_coding_transcript_exon_variant,,ENST00000520235,;PREX2,non_coding_transcript_exon_variant,,ENST00000522247,;							LOW	4500/4821		PREX2_HUMAN			Transcript			.	ENSP00000288368		CCDS6201.1			1	
FBXL13	0	LGGM	GRCh37	7	102695609	102695609	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	41	3	.	.	ENST00000313221.4:c.-1+482C>A		*1*	ENST00000313221	NM_145032.3			0	1	1	UPI000020F830	0		ENST00000313221		ENSG00000161040	21658		44			HGNC	p.P66T		FBXL13		SNV							ENST00000440067	protein_coding							T		-/2744							YES	FBXL13,missense_variant,p.Pro66Thr,ENST00000440067,;FBXL13,intron_variant,,ENST00000393772,NM_001287150.1;FBXL13,intron_variant,,ENST00000379308,;FBXL13,intron_variant,,ENST00000313221,NM_145032.3;FBXL13,intron_variant,,ENST00000379305,;FBXL13,intron_variant,,ENST00000455112,NM_001111038.1;FBXL13,intron_variant,,ENST00000379306,;FBXL13,intron_variant,,ENST00000456695,;FBXL13,intron_variant,,ENST00000471074,;FBXL13,missense_variant,p.Pro66Thr,ENST00000448002,;							MODIFIER	-/2208		FXL13_HUMAN			Transcript			.	ENSP00000321927		CCDS5726.1			1	
TNPO2	0	LGGM	GRCh37	19	12817482	12817482	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	33	3	.	.	ENST00000425528.1:c.1398G>T	p.Val466=	p.V466=	ENST00000425528		466	gtG/gtT	0	1	1	UPI000013F0EA	0		ENST00000425528		ENSG00000105576	19998		36			HGNC	p.V466V		TNPO2		SNV							ENST00000592287	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF17,hmmpanther:PTHR10527		V		A		1756/5122				K7ESC1_HUMAN,K7ENW1_HUMAN,K7EMA3_HUMAN			YES	TNPO2,synonymous_variant,p.=,ENST00000425528,;TNPO2,synonymous_variant,p.=,ENST00000441499,NM_001136195.1;TNPO2,synonymous_variant,p.=,ENST00000450764,;TNPO2,synonymous_variant,p.=,ENST00000356861,NM_013433.4;TNPO2,synonymous_variant,p.=,ENST00000588216,;TNPO2,synonymous_variant,p.=,ENST00000592287,NM_001136196.1;TNPO2,upstream_gene_variant,,ENST00000589149,;SNORD41,upstream_gene_variant,,ENST00000386967,NR_002751.1;TNPO2,downstream_gene_variant,,ENST00000589956,;TNPO2,synonymous_variant,p.=,ENST00000585886,;TNPO2,synonymous_variant,p.=,ENST00000588491,;TNPO2,upstream_gene_variant,,ENST00000589572,;TNPO2,upstream_gene_variant,,ENST00000587155,;TNPO2,downstream_gene_variant,,ENST00000588151,;TNPO2,upstream_gene_variant,,ENST00000587068,;							LOW	1398/2694		TNPO2_HUMAN			Transcript			.	ENSP00000407182		CCDS45991.1			1	
LAMA5	0	LGGM	GRCh37	20	60901783	60901783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	27	3	.	.	ENST00000252999.3:c.5248G>A	p.Ala1750Thr	p.A1750T	ENST00000252999	NM_005560.4	1750	Gca/Aca	0	1	1	UPI0000161FDC	0	NA	ENST00000252999		ENSG00000130702	6485		30	0.425		HGNC	p.A1750T	COSM245393	LAMA5		SNV						1	ENST00000252999	protein_coding	getma.org/?cm=var&var=hg19,20,60901783,C,T&fts=all		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,SMART_domains:SM00281		A/T		T	neutral	5315/11426		getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=1693&re=1829&var=A1750T		O75079_HUMAN			YES	LAMA5,missense_variant,p.Ala1750Thr,ENST00000252999,NM_005560.4;LAMA5,upstream_gene_variant,,ENST00000497363,;LAMA5,upstream_gene_variant,,ENST00000464134,;					1		MODERATE	5248/11088	A1750T	LAMA5_HUMAN			Transcript		benign(0.123)	.	ENSP00000252999		CCDS33502.1			1	
VPS39	0	LGGM	GRCh37	15	42457252	42457252	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	45	3	.	.	ENST00000318006.5:c.1839G>A	p.Gln613=	p.Q613=	ENST00000318006	NM_015289.2	613	caG/caA	0	1		UPI000013E629	0		ENST00000348544		ENSG00000166887	20593		48			HGNC	p.Q624Q		VPS39		SNV							ENST00000348544	protein_coding			hmmpanther:PTHR12894,hmmpanther:PTHR12894:SF10,PROSITE_profiles:PS50236		Q		T		1872/2661								VPS39,synonymous_variant,p.=,ENST00000318006,NM_015289.2;VPS39,synonymous_variant,p.=,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,;							LOW	1872/2661		VPS39_HUMAN			Transcript			.	ENSP00000335193					1	
CKAP2	0	LGGM	GRCh37	13	53029702	53029702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	31	3	.	.	ENST00000378037.5:c.11C>A	p.Pro4Gln	p.P4Q	ENST00000378037	NM_018204.3	4	cCg/cAg	0	1	1	UPI000006DA2D	0	NA	ENST00000378037		ENSG00000136108	1990		34	1.5		HGNC	p.P4Q		CKAP2		SNV							ENST00000258607	protein_coding	getma.org/?cm=var&var=hg19,13,53029702,C,A&fts=all		hmmpanther:PTHR16076:SF8,hmmpanther:PTHR16076		P/Q		A	low	101/3629		getma.org/?cm=msa&ty=f&p=CKAP2_HUMAN&rb=1&re=678&var=P4Q	tolerated_low_confidence(0.1)	C9J7Y4_HUMAN,C9J649_HUMAN			YES	CKAP2,missense_variant,p.Pro4Gln,ENST00000378037,NM_018204.3,NM_001098525.1;CKAP2,missense_variant,p.Pro4Gln,ENST00000258607,;CKAP2,missense_variant,p.Pro4Gln,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,;							MODERATE	Nov-52	P4Q	CKAP2_HUMAN			Transcript		benign(0.279)	.	ENSP00000367276		CCDS41893.1			1	
ALOX15	0	LGGM	GRCh37	17	4534916	4534916	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	36	3	.	.	ENST00000570836.1:c.1968G>A	p.Val656=	p.V656=	ENST00000570836		656	gtG/gtA	0	1		UPI000013E118	0		ENST00000293761		ENSG00000161905	433		39			HGNC	p.V678V	rs753630424	ALOX15		SNV							ENST00000545513	protein_coding			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF33,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Superfamily_domains:SSF48484		V		T		1982/2677				I3L175_HUMAN,D3DTK1_HUMAN				ALOX15,synonymous_variant,p.=,ENST00000570836,;ALOX15,synonymous_variant,p.=,ENST00000293761,NM_001140.3;ALOX15,synonymous_variant,p.=,ENST00000574640,;ALOX15,synonymous_variant,p.=,ENST00000545513,;							LOW	1968/1989		LOX15_HUMAN			Transcript			.	ENSP00000293761		CCDS11049.1			1	
FAM9A	0	LGGM	GRCh37	X	8767076	8767076	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	30	3	.	.	ENST00000543214.1:c.151C>A	p.Arg51Ser	p.R51S	ENST00000543214	NM_001171186.1	51	Cgc/Agc	0	1		UPI000012A418	0	NA	ENST00000381003		ENSG00000183304	18403		33	0.345		HGNC	p.R51S		FAM9A		SNV							ENST00000381003	protein_coding	getma.org/?cm=var&var=hg19,X,8767076,G,T&fts=all		hmmpanther:PTHR19368:SF2,hmmpanther:PTHR19368		R/S		T	neutral	262/1519		getma.org/?cm=msa&ty=f&p=FAM9A_HUMAN&rb=1&re=189&var=R51S	deleterious_low_confidence(0.04)					FAM9A,missense_variant,p.Arg51Ser,ENST00000543214,NM_001171186.1;FAM9A,missense_variant,p.Arg51Ser,ENST00000381003,NM_174951.3;							MODERATE	151/999	R51S	FAM9A_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000370391		CCDS14131.1			1	
MUC16	0	LGGM	GRCh37	19	8982189	8982189	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	13	4	.	.	ENST00000397910.4:c.42086A>G	p.Tyr14029Cys	p.Y14029C	ENST00000397910	NM_024690.2	14029	tAc/tGc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13946&to=14056&var=Y14054C	ENST00000397910		ENSG00000181143	15582		17	3.005		HGNC	p.Y670C		MUC16		SNV							ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8982189,T,C&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		Y/C		C	medium	42290/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13946&re=14056&var=Y14054C		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Tyr14029Cys,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Tyr869Cys,ENST00000599436,;MUC16,missense_variant,p.Tyr670Cys,ENST00000380951,;MUC16,upstream_gene_variant,,ENST00000596956,;MUC16,missense_variant,p.Tyr847Cys,ENST00000601404,;MUC16,missense_variant,p.Tyr649Cys,ENST00000596768,;							MODERATE	42086/43524	Y14054C				Transcript		probably_damaging(0.999)	.	ENSP00000381008		CCDS54212.1			1	
MAN2B2	0	LGGM	GRCh37	4	6606906	6606906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	90	4	.	.	ENST00000285599.3:c.1664C>A	p.Pro555Gln	p.P555Q	ENST00000285599	NM_015274.1	555	cCg/cAg	0	1	1	UPI000004BF05	0	getma.org/pdb.php?prot=MA2B2_HUMAN&from=475&to=1003&var=P555Q	ENST00000285599		ENSG00000013288	29623		94	0.345		HGNC	p.P504Q		MAN2B2		SNV							ENST00000504248	protein_coding	getma.org/?cm=var&var=hg19,4,6606906,C,A&fts=all		Pfam_domain:PF07748,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,Superfamily_domains:SSF74650		P/Q		A	neutral	1700/5143		getma.org/?cm=msa&ty=f&p=MA2B2_HUMAN&rb=475&re=1003&var=P555Q	tolerated(0.57)	Q05BN7_HUMAN,B3KQN1_HUMAN			YES	MAN2B2,missense_variant,p.Pro554Gln,ENST00000505907,;MAN2B2,missense_variant,p.Pro555Gln,ENST00000285599,NM_015274.1;MAN2B2,missense_variant,p.Pro504Gln,ENST00000504248,;MAN2B2,upstream_gene_variant,,ENST00000504960,;							MODERATE	1664/3030	P555Q	MA2B2_HUMAN			Transcript		benign(0.018)	.	ENSP00000285599		CCDS33951.1			1	
STON1-GTF2A1L	0	LGGM	GRCh37	2	48873669	48873669	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	79	4	.	.	ENST00000394754.1:c.2578C>A	p.Gln860Lys	p.Q860K	ENST00000394754	NM_172311.2	860	Cag/Aag	0	1	1	UPI000013C976	0	NA	ENST00000394754		ENSG00000068781	30651		83	2.705		HGNC	p.Q122K		STON1-GTF2A1L		SNV							ENST00000430487	protein_coding	getma.org/?cm=var&var=hg19,2,48873669,C,A&fts=all		Pfam_domain:PF03153		Q/K		A	medium	2692/3824		getma.org/?cm=msa&ty=f&p=TF2AY_HUMAN&rb=9&re=478&var=Q156K	deleterious(0.01)	Q53S48_HUMAN			YES	STON1-GTF2A1L,missense_variant,p.Gln860Lys,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Gln860Lys,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Gln860Lys,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Gln860Lys,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Gln813Lys,ENST00000394751,NM_001198594.1;GTF2A1L,missense_variant,p.Gln156Lys,ENST00000403751,NM_006872.3;GTF2A1L,missense_variant,p.Gln122Lys,ENST00000430487,NM_001193487.1;GTF2A1L,missense_variant,p.Gln165Lys,ENST00000437125,;GTF2A1L,missense_variant,p.Gln122Lys,ENST00000448460,;LHCGR,non_coding_transcript_exon_variant,,ENST00000420913,;GTF2A1L,non_coding_transcript_exon_variant,,ENST00000468326,;GTF2A1L,3_prime_UTR_variant,,ENST00000423675,;							MODERATE	2578/3549	Q156K				Transcript		probably_damaging(0.991)	.	ENSP00000378236		CCDS1840.1			1	
DBF4B	0	LGGM	GRCh37	17	42809575	42809575	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	21	4	.	.	ENST00000315005.3:c.498C>A	p.Gly166=	p.G166=	ENST00000315005	NM_145663.2	166	ggC/ggA	0	1	1	UPI00000473C7	0		ENST00000315005		ENSG00000161692	17883		25			HGNC	p.G166G		DBF4B		SNV							ENST00000315005	protein_coding			hmmpanther:PTHR15375,hmmpanther:PTHR15375:SF23,Low_complexity_(Seg):seg		G		A		636/2997				B3KWT3_HUMAN			YES	DBF4B,synonymous_variant,p.=,ENST00000315005,NM_145663.2;DBF4B,synonymous_variant,p.=,ENST00000393547,NM_025104.3;DBF4B,intron_variant,,ENST00000398338,;DBF4B,intron_variant,,ENST00000526915,;DBF4B,non_coding_transcript_exon_variant,,ENST00000528353,;DBF4B,intron_variant,,ENST00000526924,;DBF4B,upstream_gene_variant,,ENST00000527862,;DBF4B,downstream_gene_variant,,ENST00000532789,;DBF4B,downstream_gene_variant,,ENST00000528766,;DBF4B,downstream_gene_variant,,ENST00000525140,;DBF4B,downstream_gene_variant,,ENST00000531699,;							LOW	498/1848		DBF4B_HUMAN			Transcript			.	ENSP00000323663		CCDS11485.1			1	
FAM160B2	0	LGGM	GRCh37	8	21957325	21957325	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	26	4	.	.	ENST00000289921.7:c.1262G>T	p.Arg421Leu	p.R421L	ENST00000289921	NM_022749.5	421	cGg/cTg	0	1	1	UPI00006C5119	0	NA	ENST00000289921		ENSG00000158863	16492		30	1.3		HGNC	p.R421L		FAM160B2		SNV							ENST00000450006	protein_coding	getma.org/?cm=var&var=hg19,8,21957325,G,T&fts=all		Pfam_domain:PF10257,hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF7		R/L		T	low	1308/4245		getma.org/?cm=msa&ty=f&p=F16B2_HUMAN&rb=79&re=476&var=R421L	tolerated(0.07)				YES	FAM160B2,missense_variant,p.Arg421Leu,ENST00000289921,NM_022749.5;FAM160B2,missense_variant,p.Arg421Leu,ENST00000450006,;FAM160B2,downstream_gene_variant,,ENST00000488968,;FAM160B2,upstream_gene_variant,,ENST00000496599,;FAM160B2,downstream_gene_variant,,ENST00000427751,;FAM160B2,downstream_gene_variant,,ENST00000498344,;FAM160B2,downstream_gene_variant,,ENST00000464226,;FAM160B2,upstream_gene_variant,,ENST00000491733,;FAM160B2,upstream_gene_variant,,ENST00000523633,;FAM160B2,upstream_gene_variant,,ENST00000477614,;FAM160B2,upstream_gene_variant,,ENST00000462914,;FAM160B2,downstream_gene_variant,,ENST00000474579,;AC091171.1,upstream_gene_variant,,ENST00000436711,;							MODERATE	1262/2232	R421L	F16B2_HUMAN			Transcript		benign(0.004)	.	ENSP00000289921		CCDS6021.2			1	
ANGPTL3	0	LGGM	GRCh37	1	63070403	63070403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	95	4	.	.	ENST00000371129.3:c.1298C>A	p.Ser433Tyr	p.S433Y	ENST00000371129	NM_014495.3	433	tCt/tAt	0	1	1	UPI000003722C	0	getma.org/pdb.php?prot=ANGL3_HUMAN&from=242&to=454&var=S433Y	ENST00000371129		ENSG00000132855	491		99	-1.315		HGNC	p.S433Y	rs755423135	ANGPTL3	0.000182	SNV			1				ENST00000371129	protein_coding	getma.org/?cm=var&var=hg19,1,63070403,C,A&fts=all		Gene3D:4.10.530.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18,SMART_domains:SM00186,Superfamily_domains:SSF56496		S/Y		A	neutral	1378/2805		getma.org/?cm=msa&ty=f&p=ANGL3_HUMAN&rb=242&re=454&var=S433Y	tolerated(1)	B1ALJ0_HUMAN			YES	ANGPTL3,missense_variant,p.Ser433Tyr,ENST00000371129,NM_014495.3;DOCK7,intron_variant,,ENST00000251157,NM_001272001.1,NM_001271999.1;DOCK7,intron_variant,,ENST00000340370,NM_033407.3,NM_001272000.1;DOCK7,intron_variant,,ENST00000404627,NM_001272002.1;AL138847.1,upstream_gene_variant,,ENST00000593719,;ANGPTL3,downstream_gene_variant,,ENST00000493994,;ANGPTL3,downstream_gene_variant,,ENST00000482591,;							MODERATE	1298/1383	S433Y	ANGL3_HUMAN			Transcript		benign(0.001)	.	ENSP00000360170	2.47E-05	CCDS622.1			1	
OR1A2	0	LGGM	GRCh37	17	3100931	3100931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	83	4	.	.	ENST00000381951.1:c.119C>A	p.Thr40Asn	p.T40N	ENST00000381951	NM_012352.1	40	aCt/aAt	0	1	1	UPI0000041E56	0	getma.org/pdb.php?prot=OR1A2_HUMAN&from=1&to=138&var=T40N	ENST00000381951		ENSG00000172150	8180		87	2.495		HGNC	p.T40N		OR1A2		SNV							ENST00000381951	protein_coding	getma.org/?cm=var&var=hg19,17,3100931,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF319,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/N		A	medium	119/930		getma.org/?cm=msa&ty=f&p=OR1A2_HUMAN&rb=1&re=138&var=T40N	deleterious(0)				YES	OR1A2,missense_variant,p.Thr40Asn,ENST00000381951,NM_012352.1;							MODERATE	119/930	T40N	OR1A2_HUMAN			Transcript		benign(0.067)	.	ENSP00000371377		CCDS11021.1			1	
GHITM	0	LGGM	GRCh37	10	85901349	85901349	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	94	4	.	.	ENST00000372134.3:c.93C>A	p.Ser31=	p.S31=	ENST00000372134	NM_014394.2	31	tcC/tcA	0	1	1	UPI0000049DE6	0		ENST00000372134		ENSG00000165678	17281		98			HGNC	p.S31S		GHITM		SNV							ENST00000372134	protein_coding			Pfam_domain:PF12811		S		A		286/2128				Q9P099_HUMAN,Q658I8_HUMAN,Q5VT94_HUMAN,B4DPG9_HUMAN			YES	GHITM,synonymous_variant,p.=,ENST00000372134,NM_014394.2;RP11-338I21.1,upstream_gene_variant,,ENST00000606511,;							LOW	93/1038		GHITM_HUMAN			Transcript			.	ENSP00000361207		CCDS41542.1			1	
SRP54	0	LGGM	GRCh37	14	35476594	35476594	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	64	5	.	.	ENST00000556994.1:c.360+1G>A		p.X120_splice	ENST00000556994				0	1		UPI0000135EE0	0		ENST00000216774		ENSG00000100883	11301		69			HGNC	-		SRP54		SNV							ENST00000556994	protein_coding							A		-/2279				G3V4F7_HUMAN,G3V480_HUMAN,G3V346_HUMAN				SRP54,splice_donor_variant,,ENST00000556994,;SRP54,splice_donor_variant,,ENST00000216774,NM_003136.3;SRP54,splice_donor_variant,,ENST00000546080,NM_001146282.1;SRP54,splice_donor_variant,,ENST00000555557,;SRP54,downstream_gene_variant,,ENST00000555535,;SRP54,intron_variant,,ENST00000556380,;							HIGH	360/1515		SRP54_HUMAN			Transcript			.	ENSP00000216774		CCDS9652.1			1	
NUAK2	0	LGGM	GRCh37	1	205272736	205272736	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	32	5	.	.	ENST00000367157.3:c.1729C>G	p.Leu577Val	p.L577V	ENST00000367157	NM_030952.1	577	Ctc/Gtc	0	1	1	UPI0000037D77	0	NA	ENST00000367157		ENSG00000163545	29558		37	2.135		HGNC	p.L577V		NUAK2		SNV							ENST00000367157	protein_coding	getma.org/?cm=var&var=hg19,1,205272736,G,C&fts=all		hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF133		L/V		C	medium	1856/3405		getma.org/?cm=msa&ty=f&p=NUAK2_HUMAN&rb=542&re=628&var=L577V	deleterious_low_confidence(0.01)	Q68E04_HUMAN,B4E0Y5_HUMAN			YES	NUAK2,missense_variant,p.Leu577Val,ENST00000367157,NM_030952.1;							MODERATE	1729/1887	L577V	NUAK2_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000356125		CCDS1453.1			1	
MTHFD2	0	LGGM	GRCh37	2	74438914	74438914	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	32	5	.	.	ENST00000394053.2:c.810A>C	p.Ala270=	p.A270=	ENST00000394053	NM_006636.3	270	gcA/gcC	0	1	1	UPI0000208708	0		ENST00000394053		ENSG00000065911	7434		37			HGNC	p.A270A		MTHFD2		SNV							ENST00000394053	protein_coding			HAMAP:MF_01576,hmmpanther:PTHR10025:SF29,hmmpanther:PTHR10025,Gene3D:3.40.50.720,Pfam_domain:PF02882,Superfamily_domains:SSF51735,Prints_domain:PR00085		A		C		890/4456				Q7Z650_HUMAN,B4DY35_HUMAN,B2R7W0_HUMAN			YES	MTHFD2,synonymous_variant,p.=,ENST00000394053,NM_006636.3;MTHFD2,synonymous_variant,p.=,ENST00000409804,;MTHFD2,synonymous_variant,p.=,ENST00000264090,;MTHFD2,synonymous_variant,p.=,ENST00000394050,;MTHFD2,intron_variant,,ENST00000409601,;SLC4A5,downstream_gene_variant,,ENST00000394019,NM_133478.2;SLC4A5,downstream_gene_variant,,ENST00000423644,;SLC4A5,downstream_gene_variant,,ENST00000346834,;SLC4A5,downstream_gene_variant,,ENST00000359484,;SLC4A5,downstream_gene_variant,,ENST00000483195,;MTHFD2,downstream_gene_variant,,ENST00000477455,;MTHFD2,downstream_gene_variant,,ENST00000462026,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;MTHFD2,3_prime_UTR_variant,,ENST00000470592,;MTHFD2,3_prime_UTR_variant,,ENST00000489041,;							LOW	810/1053		MTDC_HUMAN			Transcript			.	ENSP00000377617		CCDS1935.2			1	
GSE1	0	LGGM	GRCh37	16	85690931	85690931	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	23	8	.	.	ENST00000253458.7:c.1361C>G	p.Pro454Arg	p.P454R	ENST00000253458	NM_014615.3	454	cCc/cGc	0	1	1	UPI0000185F04	0	NA	ENST00000253458		ENSG00000131149	28979		31	1.78		HGNC	p.P381R	rs199594114	GSE1		SNV							ENST00000393243	protein_coding	getma.org/?cm=var&var=hg19,16,85690931,C,G&fts=all	T:0	hmmpanther:PTHR17608,hmmpanther:PTHR17608:SF3,Low_complexity_(Seg):seg		P/R		G	low	1537/7495		getma.org/?cm=msa&ty=f&p=GSE1_HUMAN&rb=404&re=603&var=P454R	deleterious(0.01)	C9JLW9_HUMAN	T:0	T:0.003	YES	GSE1,missense_variant,p.Pro454Arg,ENST00000253458,NM_014615.3;GSE1,missense_variant,p.Pro381Arg,ENST00000393243,NM_001278184.1;GSE1,missense_variant,p.Pro261Arg,ENST00000412692,;GSE1,missense_variant,p.Pro350Arg,ENST00000405402,NM_001134473.2;GSE1,downstream_gene_variant,,ENST00000411612,;RN7SL381P,upstream_gene_variant,,ENST00000577658,;GSE1,upstream_gene_variant,,ENST00000469381,;GSE1,upstream_gene_variant,,ENST00000479488,;		T:0.0006					MODERATE	1361/3654	P454R	GSE1_HUMAN		T:0	Transcript		probably_damaging(0.979)	.	ENSP00000253458		CCDS10952.1		T:0	1	
GOPC	0	LGGM	GRCh37	6	117892030	117892030	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	30	8	.	.	ENST00000368498.2:c.905C>T	p.Ser302Leu	p.S302L	ENST00000368498	NM_020399.3	302	tCa/tTa	0	1	1	UPI0000070C27	0	getma.org/pdb.php?prot=GOPC_HUMAN&from=288&to=368&var=S302L	ENST00000368498		ENSG00000047932	17643		38	2.705		HGNC	p.S302L		GOPC		SNV							ENST00000368498	protein_coding	getma.org/?cm=var&var=hg19,6,117892030,G,A&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR16528,SMART_domains:SM00228,Superfamily_domains:SSF50156		S/L		A	medium	981/4450		getma.org/?cm=msa&ty=f&p=GOPC_HUMAN&rb=288&re=368&var=S302L	deleterious(0)				YES	GOPC,missense_variant,p.Ser302Leu,ENST00000535237,;GOPC,missense_variant,p.Ser294Leu,ENST00000052569,NM_001017408.2;GOPC,missense_variant,p.Ser302Leu,ENST00000368498,NM_020399.3;DCBLD1,downstream_gene_variant,,ENST00000296955,NM_173674.1;GOPC,non_coding_transcript_exon_variant,,ENST00000467125,;DCBLD1,downstream_gene_variant,,ENST00000533453,;							MODERATE	905/1389	S302L	GOPC_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000357484		CCDS5117.1			1	
IFT172	0	LGGM	GRCh37	2	27676556	27676556	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	44	9	.	.	ENST00000260570.3:c.3762C>T	p.Pro1254=	p.P1254=	ENST00000260570	NM_015662.1	1254	ccC/ccT	0	1	1	UPI0000353ABB	0		ENST00000260570		ENSG00000138002	30391		53			HGNC	p.P1254P		IFT172		SNV			1				ENST00000260570	protein_coding			hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2		P		A		3866/5415				H7C161_HUMAN			YES	IFT172,synonymous_variant,p.=,ENST00000260570,NM_015662.1;IFT172,synonymous_variant,p.=,ENST00000443889,;IFT172,synonymous_variant,p.=,ENST00000509128,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,non_coding_transcript_exon_variant,,ENST00000475909,;IFT172,intron_variant,,ENST00000450564,;IFT172,downstream_gene_variant,,ENST00000476693,;AC074117.13,upstream_gene_variant,,ENST00000417130,;							LOW	3762/5250		IF172_HUMAN			Transcript			.	ENSP00000260570		CCDS1755.1			1	
FSHR	0	LGGM	GRCh37	2	49190511	49190511	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	31	10	.	.	ENST00000406846.2:c.1449C>A	p.Leu483=	p.L483=	ENST00000406846	NM_000145.3	483	ctC/ctA	0	1	1	UPI000013E97A	0		ENST00000406846		ENSG00000170820	3969		41			HGNC	p.L457L		FSHR		SNV			1				ENST00000304421	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5,Superfamily_domains:SSF81321		L		T		1569/2784				F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN			YES	FSHR,synonymous_variant,p.=,ENST00000406846,NM_000145.3;FSHR,synonymous_variant,p.=,ENST00000346173,;FSHR,synonymous_variant,p.=,ENST00000304421,NM_181446.2;FSHR,synonymous_variant,p.=,ENST00000541117,;FSHR,downstream_gene_variant,,ENST00000454032,;							LOW	1449/2088		FSHR_HUMAN			Transcript			.	ENSP00000384708		CCDS1843.1			1	
C4orf21	0	LGGM	GRCh37	4	113538782	113538782	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	37	12	.	.	ENST00000505019.1:c.2416G>C	p.Glu806Gln	p.E806Q	ENST00000505019	NM_018392.4	806	Gaa/Caa	0	1		UPI0002065843	0	NA	ENST00000445203		ENSG00000138658	25654		49	2.075		HGNC	p.E806Q		C4orf21		SNV							ENST00000473015	protein_coding	getma.org/?cm=var&var=hg19,4,113538782,C,G&fts=all				E/Q		G	medium	2852/3416		getma.org/?cm=msa&ty=f&p=CD021_HUMAN&rb=679&re=878&var=E806Q	tolerated(0.13)					C4orf21,missense_variant,p.Glu806Gln,ENST00000505019,NM_018392.4;C4orf21,missense_variant,p.Glu775Gln,ENST00000445203,;C4orf21,missense_variant,p.Glu806Gln,ENST00000309071,;C4orf21,downstream_gene_variant,,ENST00000503172,;C4orf21,missense_variant,p.Glu806Gln,ENST00000473015,;C4orf21,3_prime_UTR_variant,,ENST00000514770,;C4orf21,non_coding_transcript_exon_variant,,ENST00000264370,;C4orf21,downstream_gene_variant,,ENST00000502805,;C4orf21,downstream_gene_variant,,ENST00000512075,;							MODERATE	2323/2748	E806Q	CD021_HUMAN			Transcript		benign(0.118)	.	ENSP00000390505					1	
BRD7	0	LGGM	GRCh37	16	50359754	50359754	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	40	13	.	.	ENST00000394689.2:c.1236G>A	p.Pro412=	p.P412=	ENST00000394689	NM_001173984.2	412	ccG/ccA	0	1		UPI0000073E3C	0		ENST00000394688		ENSG00000166164	14310	0.000174	53			HGNC	p.P412P	rs765434269	BRD7		SNV				0.000295			ENST00000394688	protein_coding			Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF12		P		T		1396/5370	1.51E-05			I3L4V5_HUMAN,I3L0Y7_HUMAN				BRD7,synonymous_variant,p.=,ENST00000394688,;BRD7,synonymous_variant,p.=,ENST00000394689,NM_001173984.2,NM_013263.4;	0.000231						LOW	1236/1956		BRD7_HUMAN			Transcript			.	ENSP00000378180	6.59E-05	CCDS10742.1			1	
LRRC37A	0	LGGM	GRCh37	17	44408546	44408546	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	11	13	.	.	ENST00000320254.5:c.3903C>A	p.Ala1301=	p.A1301=	ENST00000320254	NM_014834.4	1301	gcC/gcA	0	1	1	UPI0001AE66EC	0		ENST00000320254		ENSG00000176681	29069		24			HGNC	p.A1301A		LRRC37A		SNV							ENST00000393465	protein_coding			hmmpanther:PTHR23045		A		A		3906/5177				E9PP10_HUMAN			YES	LRRC37A,synonymous_variant,p.=,ENST00000320254,NM_014834.4;LRRC37A,synonymous_variant,p.=,ENST00000393465,;LRRC37A,synonymous_variant,p.=,ENST00000496930,;ARL17B,intron_variant,,ENST00000570618,;ARL17B,intron_variant,,ENST00000434041,;ARL17B,intron_variant,,ENST00000575960,;ARL17B,intron_variant,,ENST00000575698,;ARL17B,downstream_gene_variant,,ENST00000571246,;ARL17B,intron_variant,,ENST00000572991,;							LOW	3903/5103		L37A1_HUMAN			Transcript			.	ENSP00000326324		CCDS11504.2			1	
LOXL2	0	LGGM	GRCh37	8	23160881	23160881	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	47	14	.	.	ENST00000389131.3:c.1910A>G	p.His637Arg	p.H637R	ENST00000389131	NM_002318.2	637	cAc/cGc	0	1	1	UPI000012E7AB	0	NA	ENST00000389131		ENSG00000134013	6666		61	2.295		HGNC	p.H637R		LOXL2		SNV							ENST00000389131	protein_coding	getma.org/?cm=var&var=hg19,8,23160881,T,C&fts=all		Prints_domain:PR00074,Pfam_domain:PF01186,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF10		H/R		C	medium	2280/3549		getma.org/?cm=msa&ty=f&p=LOXL2_HUMAN&rb=548&re=751&var=H637R	deleterious(0)	E5RJL2_HUMAN,E5RI22_HUMAN,E5RFE2_HUMAN			YES	LOXL2,missense_variant,p.His637Arg,ENST00000389131,NM_002318.2;							MODERATE	1910/2325	H637R	LOXL2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000373783		CCDS34864.1			1	
LRRC37A	0	LGGM	GRCh37	17	44408545	44408545	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	11	14	.	.	ENST00000320254.5:c.3902C>A	p.Ala1301Asp	p.A1301D	ENST00000320254	NM_014834.4	1301	gCc/gAc	0	1	1	UPI0001AE66EC	0	NA	ENST00000320254		ENSG00000176681	29069		25	0		HGNC	p.A1301D		LRRC37A		SNV							ENST00000393465	protein_coding	getma.org/?cm=var&var=hg19,17,44408545,C,A&fts=all		hmmpanther:PTHR23045		A/D		A	neutral	3905/5177		getma.org/?cm=msa&ty=f&p=L37A1_HUMAN&rb=977&re=1698&var=A1301D	deleterious(0.04)	E9PP10_HUMAN			YES	LRRC37A,missense_variant,p.Ala1301Asp,ENST00000320254,NM_014834.4;LRRC37A,missense_variant,p.Ala1301Asp,ENST00000393465,;LRRC37A,missense_variant,p.Ala339Asp,ENST00000496930,;ARL17B,intron_variant,,ENST00000570618,;ARL17B,intron_variant,,ENST00000434041,;ARL17B,intron_variant,,ENST00000575960,;ARL17B,intron_variant,,ENST00000575698,;ARL17B,downstream_gene_variant,,ENST00000571246,;ARL17B,intron_variant,,ENST00000572991,;							MODERATE	3902/5103	A1301D	L37A1_HUMAN			Transcript		benign(0.014)	.	ENSP00000326324		CCDS11504.2			1	
OR10J1	0	LGGM	GRCh37	1	159410498	159410498	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	31	15	.	.	ENST00000423932.3:c.950G>T	p.Gly317Val	p.G317V	ENST00000423932	NM_012351.2	317	gGg/gTg	0	1	1	UPI000013E7DA	0	NA	ENST00000423932		ENSG00000196184	8175		46	0.46		HGNC	p.G317V		OR10J1		SNV							ENST00000423932	protein_coding	getma.org/?cm=var&var=hg19,1,159410498,G,T&fts=all		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF249,Superfamily_domains:SSF81321		G/V		T	neutral	987/1089		getma.org/?cm=msa&ty=f&p=O10J1_HUMAN&rb=271&re=320&var=G317V	deleterious(0.03)				YES	OR10J1,missense_variant,p.Gly317Val,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;							MODERATE	950/963	G317V	O10J1_HUMAN			Transcript		benign(0.009)	.	ENSP00000399078		CCDS1185.1			1	
IL1RAPL1	0	LGGM	GRCh37	X	29959841	29959841	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	149	15	.	.	ENST00000378993.1:c.1131C>G	p.Ile377Met	p.I377M	ENST00000378993	NM_014271.3	377	atC/atG	0	1	1	UPI000006D1BF	0	NA	ENST00000378993		ENSG00000169306	5996		164	1.7		HGNC	p.I377M		IL1RAPL1		SNV			1				ENST00000302196	protein_coding	getma.org/?cm=var&var=hg19,X,29959841,C,G&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR01537,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF20		I/M		G	low	1804/3667		getma.org/?cm=msa&ty=f&p=IRPL1_HUMAN&rb=351&re=406&var=I377M	tolerated(0.05)	Q7Z2H0_HUMAN			YES	IL1RAPL1,missense_variant,p.Ile377Met,ENST00000378993,NM_014271.3;IL1RAPL1,missense_variant,p.Ile377Met,ENST00000302196,;							MODERATE	1131/2091	I377M	IRPL1_HUMAN			Transcript		benign(0.034)	.	ENSP00000368278		CCDS14218.1			1	
SAMD15	0	LGGM	GRCh37	14	77843763	77843763	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	68	16	.	.	ENST00000216471.4:c.2T>C	p.Met1?	p.M1?	ENST00000216471	NM_001010860.1	1	aTg/aCg	0	1	1	UPI0000072F0E	0	NA	ENST00000216471		ENSG00000100583	18631		84	0		HGNC	p.M1T		SAMD15		SNV							ENST00000216471	protein_coding	getma.org/?cm=var&var=hg19,14,77843763,T,C&fts=all		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF55		M/T		C	NA	288/2564		http://getma.org/?cm=msa&ty=f&p=SAM15_HUMAN&rb=1&re=256&var=M1T	deleterious(0)	G3V2Z3_HUMAN			YES	SAMD15,start_lost,p.Met1?,ENST00000216471,NM_001010860.1;SAMD15,intron_variant,,ENST00000533095,;TMED8,upstream_gene_variant,,ENST00000216468,NM_213601.1;							HIGH	Feb-25	M1T	SAM15_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000216471		CCDS32126.1			1	
S100Z	0	LGGM	GRCh37	5	76173623	76173623	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	36	17	.	.	ENST00000317593.4:c.266A>G	p.Tyr89Cys	p.Y89C	ENST00000317593	NM_130772.3	89	tAc/tGc	0	1	1	UPI00001400D0	0		ENST00000317593		ENSG00000171643	30367		53			HGNC	p.Y89C		S100Z		SNV							ENST00000317593	protein_coding			Gene3D:1.10.238.10,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF51,Superfamily_domains:SSF47473		Y/C		G		498/1468			tolerated(0.18)				YES	S100Z,missense_variant,p.Tyr89Cys,ENST00000317593,NM_130772.3;S100Z,missense_variant,p.Tyr89Cys,ENST00000513010,;							MODERATE	266/300		S100Z_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000320430		CCDS43333.1			1	
SULF2	0	LGGM	GRCh37	20	46295196	46295196	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	37	18	.	.	ENST00000359930.4:c.1613G>A	p.Arg538His	p.R538H	ENST00000359930	NM_018837.3	538	cGc/cAc	0	1	1	UPI000003FFBA	0	NA	ENST00000359930		ENSG00000196562	20392		55	2.435		HGNC	p.R538H	rs772061980	SULF2	6.08E-05	SNV							ENST00000484875	protein_coding	getma.org/?cm=var&var=hg19,20,46295196,C,T&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF67,Pfam_domain:PF12548,PIRSF_domain:PIRSF036665		R/H		T	medium	2465/4915	4.55E-05	getma.org/?cm=msa&ty=f&p=SULF2_HUMAN&rb=527&re=665&var=R538H	deleterious(0.01)	Q5BKT1_HUMAN,B1AMP9_HUMAN			YES	SULF2,missense_variant,p.Arg538His,ENST00000359930,NM_018837.3;SULF2,missense_variant,p.Arg538His,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,missense_variant,p.Arg538His,ENST00000361612,;SULF2,missense_variant,p.Arg538His,ENST00000467815,;SULF2,upstream_gene_variant,,ENST00000495544,;SULF2,upstream_gene_variant,,ENST00000433632,;							MODERATE	1613/2613	R538H	SULF2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353007	3.29E-05	CCDS13408.1			1	
TAF1B	0	LGGM	GRCh37	2	9994550	9994550	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	33	19	.	.	ENST00000263663.5:c.399G>T	p.Thr133=	p.T133=	ENST00000263663	NM_005680.2	133	acG/acT	0	1	1	UPI0000208E44	0		ENST00000263663		ENSG00000115750	11533		52			HGNC	p.T133T		TAF1B		SNV							ENST00000402170	protein_coding			hmmpanther:PTHR31576,hmmpanther:PTHR31576:SF2		T		T		587/2387							YES	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,;							LOW	399/1767		TAF1B_HUMAN			Transcript			.	ENSP00000263663		CCDS33143.1			1	
PCDHB8	0	LGGM	GRCh37	5	140557985	140557985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	111	19	.	.	ENST00000239444.2:c.370G>A	p.Val124Ile	p.V124I	ENST00000239444	NM_019120.3	124	Gta/Ata	0	1	1	UPI000013CA80	0	getma.org/pdb.php?prot=PCDB8_HUMAN&from=36&to=134&var=V124I	ENST00000239444		ENSG00000120322	8693		130	0.025		HGNC	p.V124I		PCDHB8		SNV							ENST00000239444	protein_coding	getma.org/?cm=var&var=hg19,5,140557985,G,A&fts=all		PROSITE_patterns:PS00232,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF89,SMART_domains:SM00112		V/I		A	neutral	615/2711		getma.org/?cm=msa&ty=f&p=PCDB8_HUMAN&rb=36&re=134&var=V124I	tolerated_low_confidence(0.4)				YES	PCDHB8,missense_variant,p.Val124Ile,ENST00000239444,NM_019120.3;PCDHB16,upstream_gene_variant,,ENST00000361016,NM_020957.1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.2;							MODERATE	370/2406	V124I	PCDB8_HUMAN			Transcript		benign(0.004)	.	ENSP00000239444		CCDS4250.1			1	
CASP4	0	LGGM	GRCh37	11	104815516	104815516	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	44	20	.	.	ENST00000444739.2:c.1098C>G	p.Ser366=	p.S366=	ENST00000444739	NM_001225.3	366	tcC/tcG	0	1	1	UPI000003AEFA	0		ENST00000444739		ENSG00000196954	1505		64			HGNC	p.S310S		CASP4		SNV							ENST00000393150	protein_coding			PROSITE_profiles:PS50207,hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF137,Pfam_domain:PF00656,Gene3D:3.40.50.1460,PIRSF_domain:PIRSF038001,SMART_domains:SM00115,Superfamily_domains:SSF52129,Prints_domain:PR00376		S		C		2009/2158				Q7KYX7_HUMAN,E9PMT1_HUMAN			YES	CASP4,synonymous_variant,p.=,ENST00000444739,NM_001225.3;CASP4,synonymous_variant,p.=,ENST00000393150,NM_033306.2;CASP4,intron_variant,,ENST00000533252,;CASP4,downstream_gene_variant,,ENST00000531333,;CASP4,downstream_gene_variant,,ENST00000529183,;CASP4,non_coding_transcript_exon_variant,,ENST00000529565,;CASP4,non_coding_transcript_exon_variant,,ENST00000533730,;CASP4,non_coding_transcript_exon_variant,,ENST00000525116,;CASP4,non_coding_transcript_exon_variant,,ENST00000530309,;CASP4,downstream_gene_variant,,ENST00000524843,;CASP4,downstream_gene_variant,,ENST00000534356,;							LOW	1098/1134		CASP4_HUMAN			Transcript			.	ENSP00000388566		CCDS8327.1			1	
PCDHA8	0	LGGM	GRCh37	5	140222449	140222449	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	48	20	.	.	ENST00000531613.1:c.1543G>T	p.Gly515Cys	p.G515C	ENST00000531613	NM_018911.2	515	Ggc/Tgc	0	1	1	UPI00001273D0	0	getma.org/pdb.php?prot=PCDA8_HUMAN&from=460&to=556&var=G515C	ENST00000531613		ENSG00000204962	8674		68	4.46		HGNC	p.G515C		PCDHA8		SNV							ENST00000531613	protein_coding	getma.org/?cm=var&var=hg19,5,140222449,G,T&fts=all		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		G/C		T	high	1543/5260		getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=460&re=556&var=G515C	deleterious_low_confidence(0.01)				YES	PCDHA8,missense_variant,p.Gly515Cys,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Gly515Cys,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;							MODERATE	1543/2853	G515C	PCDA8_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000434655		CCDS54919.1			1	
GK2	0	LGGM	GRCh37	4	80329264	80329264	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	38	20	.	.	ENST00000358842.3:c.91A>T	p.Lys31Ter	p.K31*	ENST00000358842	NM_033214.2	31	Aaa/Taa	0	1	1	UPI000011E629	0	NA	ENST00000358842		ENSG00000196475	4291		58	0		HGNC	p.K31X		GK2		SNV							ENST00000358842	protein_coding	getma.org/?cm=var&var=hg19,4,80329264,T,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF46,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR01311		K/*		A	NA	109/1865		NA					YES	GK2,stop_gained,p.Lys31Ter,ENST00000358842,NM_033214.2;							HIGH	91/1662	K31*	GLPK2_HUMAN			Transcript			.	ENSP00000351706		CCDS3585.1			1	
MYCBP2	0	LGGM	GRCh37	13	77671980	77671980	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	56	20	.	.	ENST00000544440.2:c.9195A>T	p.Ala3065=	p.A3065=	ENST00000544440		3065	gcA/gcT	0	1		UPI0000212757	0		ENST00000357337		ENSG00000005810	23386		76			HGNC	p.A3065A		MYCBP2		SNV							ENST00000544440	protein_coding			hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		A		A		9288/14736								MYCBP2,synonymous_variant,p.=,ENST00000407578,NM_015057.4;MYCBP2,synonymous_variant,p.=,ENST00000357337,;MYCBP2,synonymous_variant,p.=,ENST00000544440,;MYCBP2,downstream_gene_variant,,ENST00000360084,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2,downstream_gene_variant,,ENST00000482517,;MYCBP2,downstream_gene_variant,,ENST00000498073,;MYCBP2,upstream_gene_variant,,ENST00000485061,;MYCBP2,downstream_gene_variant,,ENST00000462987,;							LOW	9195/13923		MYCB2_HUMAN			Transcript			.	ENSP00000349892					1	
C5orf30	0	LGGM	GRCh37	5	102612163	102612163	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	38	20	.	.	ENST00000319933.2:c.543T>A	p.Ala181=	p.A181=	ENST00000319933	NM_033211.2	181	gcT/gcA	0	1	1	UPI0000070E95	0		ENST00000319933		ENSG00000181751	25052		58			HGNC	p.A181A		C5orf30		SNV							ENST00000510890	protein_coding			hmmpanther:PTHR31224:SF2,hmmpanther:PTHR31224,Pfam_domain:PF15435		A		A		851/3049							YES	C5orf30,synonymous_variant,p.=,ENST00000319933,NM_033211.2;C5orf30,synonymous_variant,p.=,ENST00000510890,;C5orf30,synonymous_variant,p.=,ENST00000515669,;							LOW	543/621		CE030_HUMAN			Transcript			.	ENSP00000326110		CCDS4095.1			1	
NLGN4X	0	LGGM	GRCh37	X	5811266	5811266	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	68	21	.	.	ENST00000381095.3:c.2043C>T	p.Val681=	p.V681=	ENST00000381095	NM_181332.1	681	gtC/gtT	0	1		UPI0000072EC5	0		ENST00000275857		ENSG00000146938	14287		89			HGNC	p.V681V	rs770117821	NLGN4X		SNV			1				ENST00000275857	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR01090		V		A		2507/5454				B3KMT6_HUMAN				NLGN4X,synonymous_variant,p.=,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,synonymous_variant,p.=,ENST00000381093,;NLGN4X,synonymous_variant,p.=,ENST00000275857,NM_020742.2;NLGN4X,synonymous_variant,p.=,ENST00000381092,;NLGN4X,synonymous_variant,p.=,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;	0.000753						LOW	2043/2451		NLGNX_HUMAN			Transcript			common_variant	ENSP00000275857	5.77E-05	CCDS14126.1			1	
POTEJ	0	LGGM	GRCh37	2	131415129	131415129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	51	21	.	.	ENST00000409602.1:c.2796G>A	p.Met932Ile	p.M932I	ENST00000409602	NM_001277083.1	932	atG/atA	0	1	1	UPI0000DD7A4B	0	getma.org/pdb.php?prot=POTEJ_HUMAN&from=665&to=1038&var=M932I	ENST00000409602		ENSG00000222038	37094		72	1.435		HGNC	p.M932I		POTEJ		SNV							ENST00000409602	protein_coding	getma.org/?cm=var&var=hg19,2,131415129,G,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,SMART_domains:SM00268,Superfamily_domains:SSF53067		M/I		A	low	2848/3383		getma.org/?cm=msa&ty=f&p=POTEJ_HUMAN&rb=665&re=1038&var=M932I	deleterious_low_confidence(0.05)				YES	POTEJ,missense_variant,p.Met932Ile,ENST00000409602,NM_001277083.1;AC140481.1,downstream_gene_variant,,ENST00000535037,;							MODERATE	2796/3117	M932I	POTEJ_HUMAN			Transcript		benign(0.039)	.	ENSP00000387176		CCDS59432.1			1	
COL12A1	0	LGGM	GRCh37	6	75838010	75838010	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	71	22	.	.	ENST00000322507.8:c.6340+2T>C		p.X2114_splice	ENST00000322507	NM_004370.5			0	1	1	UPI000045890B	0		ENST00000322507		ENSG00000111799	2188		93			HGNC	-		COL12A1		SNV			1				ENST00000322507	protein_coding							G		-/11723							YES	COL12A1,splice_donor_variant,,ENST00000322507,NM_004370.5;COL12A1,splice_donor_variant,,ENST00000483888,;COL12A1,splice_donor_variant,,ENST00000416123,;COL12A1,splice_donor_variant,,ENST00000345356,NM_080645.2;							HIGH	6340/9192		COCA1_HUMAN			Transcript			.	ENSP00000325146		CCDS43482.1			1	
RASSF1	0	LGGM	GRCh37	3	50369097	50369097	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	47	24	.	.	ENST00000357043.2:c.665C>T	p.Ser222Leu	p.S222L	ENST00000357043		222	tCa/tTa	0	1	1	UPI000006FD97	0	getma.org/pdb.php?prot=RASF1_HUMAN&from=203&to=292&var=S222L	ENST00000357043		ENSG00000068028	9882		71	2.73		HGNC	p.S222L		RASSF1		SNV							ENST00000357043	protein_coding	getma.org/?cm=var&var=hg19,3,50369097,G,A&fts=all		Pfam_domain:PF00788,PROSITE_profiles:PS50200,hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF12,SMART_domains:SM00314,Superfamily_domains:SSF54236		S/L		A	medium	701/1864		getma.org/?cm=msa&ty=f&p=RASF1_HUMAN&rb=203&re=292&var=S222L	deleterious(0)	Q1W2K8_HUMAN			YES	RASSF1,missense_variant,p.Ser218Leu,ENST00000359365,NM_170714.1,NM_001206957.1,NM_007182.4;RASSF1,missense_variant,p.Ser222Leu,ENST00000357043,;RASSF1,missense_variant,p.Ser148Leu,ENST00000327761,NM_170713.2;RASSF1,missense_variant,p.Ser67Leu,ENST00000395126,NM_170712.2;TUSC2,upstream_gene_variant,,ENST00000232496,NM_007275.1;RASSF1,downstream_gene_variant,,ENST00000488024,;TUSC2,upstream_gene_variant,,ENST00000462137,;TUSC2,upstream_gene_variant,,ENST00000463304,;RASSF1,synonymous_variant,p.=,ENST00000482447,;RASSF1,3_prime_UTR_variant,,ENST00000395117,;RASSF1,downstream_gene_variant,,ENST00000478619,;TUSC2,upstream_gene_variant,,ENST00000421918,;TUSC2,upstream_gene_variant,,ENST00000454201,;TUSC2,upstream_gene_variant,,ENST00000417867,;							MODERATE	665/1035	S222L	RASF1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349547		CCDS2820.1			1	
FAM161B	0	LGGM	GRCh37	14	74409150	74409150	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	44	24	.	.	ENST00000286544.3:c.1383C>T	p.Asn461=	p.N461=	ENST00000286544	NM_152445.2	461	aaC/aaT	0	1	1	UPI000206535E	0		ENST00000286544		ENSG00000156050	19854		68			HGNC	p.N461N		FAM161B		SNV							ENST00000286544	protein_coding			hmmpanther:PTHR21501:SF4,hmmpanther:PTHR21501,Pfam_domain:PF10595		N		A		1582/4078							YES	FAM161B,synonymous_variant,p.=,ENST00000286544,NM_152445.2;FAM161B,synonymous_variant,p.=,ENST00000534936,;FAM161B,upstream_gene_variant,,ENST00000556794,;RP5-1021I20.5,upstream_gene_variant,,ENST00000555916,;							LOW	1383/2133		F161B_HUMAN			Transcript			.	ENSP00000286544		CCDS9822.2			1	
C19orf26	0	LGGM	GRCh37	19	1235788	1235788	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	30	25	.	.	ENST00000590083.1:c.235C>A	p.Arg79Ser	p.R79S	ENST00000590083		79	Cgc/Agc	0	1		UPI000006DF67	0	NA	ENST00000382477		ENSG00000099625	28617		55	0.975		HGNC	p.R73S		C19orf26		SNV							ENST00000215376	protein_coding	getma.org/?cm=var&var=hg19,19,1235788,G,T&fts=all				R/S		T	low	492/2453		getma.org/?cm=msa&ty=f&p=DOS_HUMAN&rb=1&re=239&var=R73S	deleterious(0.03)					C19orf26,missense_variant,p.Arg79Ser,ENST00000590083,;C19orf26,missense_variant,p.Arg73Ser,ENST00000215376,NM_152769.2;C19orf26,missense_variant,p.Arg73Ser,ENST00000382477,;AC004221.2,upstream_gene_variant,,ENST00000592843,;C19orf26,missense_variant,p.Arg73Ser,ENST00000589260,;C19orf26,upstream_gene_variant,,ENST00000591127,;							MODERATE	217/2178	R73S	DOS_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000371917					1	
PTPN12	0	LGGM	GRCh37	7	77256504	77256504	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	58	26	.	.	ENST00000248594.6:c.1508C>G	p.Ser503Ter	p.S503*	ENST00000248594	NM_002835.3	503	tCa/tGa	0	1	1	UPI000013CC4C	0	NA	ENST00000248594		ENSG00000127947	9645		84	0		HGNC	p.S503X		PTPN12		SNV							ENST00000248594	protein_coding	getma.org/?cm=var&var=hg19,7,77256504,C,G&fts=all		PIRSF_domain:PIRSF000932		S/*		G	NA	1780/3406		NA		F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN			YES	PTPN12,stop_gained,p.Ser503Ter,ENST00000248594,NM_002835.3;PTPN12,stop_gained,p.Ser373Ter,ENST00000435495,NM_001131009.1;PTPN12,stop_gained,p.Ser384Ter,ENST00000415482,NM_001131008.1;PTPN12,stop_gained,p.Ser11Ter,ENST00000407343,;							HIGH	1508/2343	S503*	PTN12_HUMAN			Transcript			.	ENSP00000248594		CCDS5592.1			1	
DUSP27	0	LGGM	GRCh37	1	167096656	167096656	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	53	29	.	.	ENST00000361200.2:c.2288T>A	p.Leu763Gln	p.L763Q	ENST00000361200		763	cTg/cAg	0	1		UPI000040DFF5	0	NA	ENST00000271385		ENSG00000198842	25034		82	1.61		HGNC	p.L763Q		DUSP27		SNV							ENST00000361200	protein_coding	getma.org/?cm=var&var=hg19,1,167096656,T,A&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF25		L/Q		A	low	2408/3597		getma.org/?cm=msa&ty=f&p=DUS27_HUMAN&rb=278&re=1156&var=L763Q	tolerated(0.06)					DUSP27,missense_variant,p.Leu763Gln,ENST00000361200,;DUSP27,missense_variant,p.Leu763Gln,ENST00000443333,NM_001080426.1;DUSP27,missense_variant,p.Leu763Gln,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;							MODERATE	2288/3477	L763Q	DUS27_HUMAN			Transcript		benign(0.068)	.	ENSP00000271385		CCDS30932.1			1	
SRR	0	LGGM	GRCh37	17	2226491	2226491	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	30	31	.	.	ENST00000344595.5:c.656A>T	p.Gln219Leu	p.Q219L	ENST00000344595	NM_021947.1	219	cAg/cTg	0	1	1	UPI00000015D7	0	getma.org/pdb.php?prot=SRR_HUMAN&from=19&to=314&var=Q219L	ENST00000344595		ENSG00000167720	14398		61	0.47		HGNC	p.Q219L		SRR		SNV							ENST00000344595	protein_coding	getma.org/?cm=var&var=hg19,17,2226491,A,T&fts=all		Gene3D:3.40.50.1100,Pfam_domain:PF00291,hmmpanther:PTHR10314,hmmpanther:PTHR10314:SF36,Superfamily_domains:SSF53686		Q/L		T	neutral	974/2728		getma.org/?cm=msa&ty=f&p=SRR_HUMAN&rb=19&re=314&var=Q219L	tolerated(0.27)	Q8N3F4_HUMAN,Q3ZK31_HUMAN,I3L4W4_HUMAN,I3L4L3_HUMAN,I3L3N0_HUMAN			YES	SRR,splice_acceptor_variant,,ENST00000576620,;SRR,missense_variant,p.Gln219Leu,ENST00000344595,NM_021947.1;SRR,missense_variant,p.Gln70Leu,ENST00000574987,;TSR1,3_prime_UTR_variant,,ENST00000301364,NM_018128.4;SRR,5_prime_UTR_variant,,ENST00000576848,;SRR,downstream_gene_variant,,ENST00000570662,;TSR1,downstream_gene_variant,,ENST00000575049,;							MODERATE	656/1023	Q219L	SRR_HUMAN			Transcript		benign(0.01)	.	ENSP00000339435		CCDS11017.1			1	
ARMCX5	0	LGGM	GRCh37	X	101857741	101857741	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	100	31	.	.	ENST00000604957.1:c.672G>A	p.Trp224Ter	p.W224*	ENST00000604957	NM_001168478.1	224	tgG/tgA	0	1		UPI000013CBDB	0	NA	ENST00000246174		ENSG00000125962	25772		131	0		HGNC	p.W224X		ARMCX5		SNV							ENST00000541409	protein_coding	getma.org/?cm=var&var=hg19,X,101857741,G,A&fts=all		hmmpanther:PTHR15712:SF12,hmmpanther:PTHR15712		W/*		A	NA	1553/2899		NA		S4R3L5_HUMAN,S4R3L0_HUMAN				ARMCX5,stop_gained,p.Trp224Ter,ENST00000604957,NM_001168478.1;ARMCX5,stop_gained,p.Trp224Ter,ENST00000537008,NM_001168479.1;ARMCX5,stop_gained,p.Trp224Ter,ENST00000246174,NM_001168480.1;ARMCX5,stop_gained,p.Trp224Ter,ENST00000541409,NM_001168485.1;ARMCX5,stop_gained,p.Trp224Ter,ENST00000536530,NM_001168482.1,NM_022838.3;ARMCX5,stop_gained,p.Trp224Ter,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,;							HIGH	672/1677	W224*	ARMX5_HUMAN			Transcript			.	ENSP00000246174		CCDS14500.1			1	
ERCC6L	0	LGGM	GRCh37	X	71427890	71427890	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	80	33	.	.	ENST00000334463.3:c.727T>C	p.Cys243Arg	p.C243R	ENST00000334463	NM_017669.2	243	Tgt/Cgt	0	1	1	UPI000021233E	0	getma.org/pdb.php?prot=ERC6L_HUMAN&from=99&to=417&var=C243R	ENST00000334463		ENSG00000186871	20794		113	0.5		HGNC	p.C243R		ERCC6L		SNV							ENST00000334463	protein_coding	getma.org/?cm=var&var=hg19,X,71427890,A,G&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF67,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540		C/R		G	neutral	863/4243		getma.org/?cm=msa&ty=f&p=ERC6L_HUMAN&rb=99&re=417&var=C243R	deleterious(0.01)	B5MDQ0_HUMAN			YES	ERCC6L,missense_variant,p.Cys120Arg,ENST00000373657,;ERCC6L,missense_variant,p.Cys243Arg,ENST00000334463,NM_017669.2;PIN4,intron_variant,,ENST00000423432,NM_001170747.1;PIN4,intron_variant,,ENST00000496835,;PIN4,intron_variant,,ENST00000439980,;							MODERATE	727/3753	C243R	ERC6L_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000334675		CCDS35329.1			1	
ZFC3H1	0	LGGM	GRCh37	12	72050817	72050817	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	86	33	.	.	ENST00000378743.3:c.863A>G	p.Glu288Gly	p.E288G	ENST00000378743	NM_144982.4	288	gAg/gGg	0	1	1	UPI00003668E9	0	NA	ENST00000378743		ENSG00000133858	28328		119	0.55		HGNC	p.E288G		ZFC3H1		SNV							ENST00000552994	protein_coding	getma.org/?cm=var&var=hg19,12,72050817,T,C&fts=all		hmmpanther:PTHR21563		E/G		C	neutral	1222/7285		getma.org/?cm=msa&ty=f&p=ZC3H1_HUMAN&rb=1&re=696&var=E288G	deleterious(0.03)				YES	ZFC3H1,missense_variant,p.Glu288Gly,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Glu288Gly,ENST00000548100,;ZFC3H1,missense_variant,p.Glu288Gly,ENST00000552037,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000549407,;ZFC3H1,intron_variant,,ENST00000550712,;ZFC3H1,missense_variant,p.Glu288Gly,ENST00000552994,;							MODERATE	863/5970	E288G	ZC3H1_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000368017		CCDS41813.1			1	
C18orf21	0	LGGM	GRCh37	18	33554933	33554933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	53	34	.	.	ENST00000592875.1:c.175C>A	p.Leu59Ile	p.L59I	ENST00000592875	NM_031446.4	59	Ctc/Atc	0	1	1	UPI000059D50B	0	NA	ENST00000592875		ENSG00000141428	28802		87	2.485		HGNC	p.L59I		C18orf21		SNV							ENST00000592875	protein_coding	getma.org/?cm=var&var=hg19,18,33554933,C,A&fts=all		hmmpanther:PTHR31402,hmmpanther:PTHR31402:SF1		L/I		A	medium	821/1581		getma.org/?cm=msa&ty=f&p=CR021_HUMAN&rb=1&re=218&var=L59I	tolerated(0.06)	L7N2F3_HUMAN,K7EM84_HUMAN			YES	C18orf21,missense_variant,p.Leu59Ile,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,;							MODERATE	175/663	L59I	CR021_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000465517		CCDS11916.2			1	
KRT84	0	LGGM	GRCh37	12	52775272	52775272	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	107	35	.	.	ENST00000257951.3:c.950C>A	p.Ser317Ter	p.S317*	ENST00000257951	NM_033045.3	317	tCg/tAg	0	1	1	UPI000013CFA1	0	NA	ENST00000257951		ENSG00000161849	6461		142	0		HGNC	p.S317X		KRT84		SNV							ENST00000257951	protein_coding	getma.org/?cm=var&var=hg19,12,52775272,G,T&fts=all		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF129		S/*		T	NA	1017/2092		NA					YES	KRT84,stop_gained,p.Ser317Ter,ENST00000257951,NM_033045.3;RP3-416H24.4,intron_variant,,ENST00000547174,;							HIGH	950/1803	S317*	KRT84_HUMAN			Transcript			.	ENSP00000257951		CCDS8825.1			1	
C6orf222	0	LGGM	GRCh37	6	36291167	36291167	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080212	H080212N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	52	36	.	.	ENST00000437635.2:c.1374A>T	p.Ala458=	p.A458=	ENST00000437635	NM_001010903.4	458	gcA/gcT	0	1	1	UPI000022CB9B	0		ENST00000437635		ENSG00000189325	33769		88			HGNC	p.A458A		C6orf222		SNV							ENST00000437635	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22435,hmmpanther:PTHR22435:SF0		A		A		1552/3736							YES	C6orf222,synonymous_variant,p.=,ENST00000437635,NM_001010903.4;							LOW	1374/1959		CF222_HUMAN			Transcript			.	ENSP00000418983		CCDS34439.1			1	
NEB	0	LGGM	GRCh37	2	152534675	152534675	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	120	37	.	.	ENST00000397345.3:c.3282G>A	p.Lys1094=	p.K1094=	ENST00000397345	NM_001164508.1	1094	aaG/aaA	0	1		UPI0000212787	0		ENST00000172853		ENSG00000183091	7720		157			HGNC	p.K1094K		NEB		SNV			1				ENST00000409198	protein_coding			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		K		T		3430/20577				J3QK84_HUMAN				NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;							LOW	3282/20010					Transcript			.	ENSP00000172853					1	
MBTPS2	0	LGGM	GRCh37	X	21863316	21863316	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	81	38	.	.	ENST00000379484.5:c.252A>G	p.Val84=	p.V84=	ENST00000379484	NM_015884.3	84	gtA/gtG	0	1	1	UPI000012F5A0	0		ENST00000379484		ENSG00000012174	15455		119			HGNC	p.V84V		MBTPS2		SNV			1				ENST00000379484	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR13325:SF2,hmmpanther:PTHR13325		V		G		351/4428							YES	MBTPS2,synonymous_variant,p.=,ENST00000365779,;MBTPS2,synonymous_variant,p.=,ENST00000379484,NM_015884.3;MBTPS2,non_coding_transcript_exon_variant,,ENST00000465888,;							LOW	252/1560		MBTP2_HUMAN			Transcript			.	ENSP00000368798		CCDS14201.1			1	
PRDM10	0	LGGM	GRCh37	11	129827742	129827742	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	128	38	.	.	ENST00000358825.5:c.133C>T	p.Pro45Ser	p.P45S	ENST00000358825	NM_020228.2	45	Ccc/Tcc	0	1	1	UPI00002371B3	0	NA	ENST00000358825		ENSG00000170325	13995		166	0.695		HGNC	p.P45S	rs370492872	PRDM10		SNV	A:0.0002			9.61E-05			ENST00000358825	protein_coding	getma.org/?cm=var&var=hg19,11,129827742,G,A&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF415		P/S	A:0	A	neutral	365/6322		getma.org/?cm=msa&ty=f&p=G3XAE5_HUMAN&rb=1&re=200&var=P45S	tolerated_low_confidence(0.08)				YES	PRDM10,missense_variant,p.Pro45Ser,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.Pro45Ser,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.Pro45Ser,ENST00000528746,;PRDM10,missense_variant,p.Pro45Ser,ENST00000527581,;PRDM10,missense_variant,p.Pro45Ser,ENST00000531431,;							MODERATE	133/3483	P45S	PRD10_HUMAN			Transcript		possibly_damaging(0.453)	.	ENSP00000351686	8.24E-06	CCDS44771.1			1	
TCP11	0	LGGM	GRCh37	6	35087023	35087023	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080212	H080212N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	98	42	.	.	ENST00000311875.5:c.1300T>A	p.Cys434Ser	p.C434S	ENST00000311875		434	Tgt/Agt	0	1		UPI00000713D0	0	NA	ENST00000512012		ENSG00000124678	11658		140	2.44		HGNC	p.C359S		TCP11		SNV							ENST00000244645	protein_coding	getma.org/?cm=var&var=hg19,6,35087023,A,T&fts=all		Pfam_domain:PF05794,hmmpanther:PTHR12832,hmmpanther:PTHR12832:SF16		C/S		T	medium	1418/1669		getma.org/?cm=msa&ty=f&p=TCP11_HUMAN&rb=57&re=489&var=C421S	tolerated(0.17)	D6RGY5_HUMAN,D6RGC0_HUMAN,D6RG02_HUMAN,D6R9R9_HUMAN				TCP11,missense_variant,p.Cys434Ser,ENST00000311875,;TCP11,missense_variant,p.Cys359Ser,ENST00000244645,NM_018679.5,NM_001261821.1,NM_001261820.1;TCP11,missense_variant,p.Cys359Ser,ENST00000373979,;TCP11,missense_variant,p.Cys429Ser,ENST00000444780,NM_001093728.2,NM_001261817.1;TCP11,missense_variant,p.Cys383Ser,ENST00000412155,NM_001261819.1;TCP11,missense_variant,p.Cys388Ser,ENST00000373974,NM_001261818.1;TCP11,missense_variant,p.Cys421Ser,ENST00000512012,;TCP11,missense_variant,p.Cys358Ser,ENST00000418521,;TCP11,missense_variant,p.Cys229Ser,ENST00000502480,;TCP11,downstream_gene_variant,,ENST00000486638,;TCP11,downstream_gene_variant,,ENST00000507706,;TCP11,downstream_gene_variant,,ENST00000492680,;TCP11,downstream_gene_variant,,ENST00000505400,;TCP11,3_prime_UTR_variant,,ENST00000504758,;TCP11,3_prime_UTR_variant,,ENST00000505911,;TCP11,3_prime_UTR_variant,,ENST00000455706,;TCP11,3_prime_UTR_variant,,ENST00000427376,;TCP11,downstream_gene_variant,,ENST00000469514,;TCP11,downstream_gene_variant,,ENST00000479418,;TCP11,downstream_gene_variant,,ENST00000509988,;TCP11,downstream_gene_variant,,ENST00000505335,;							MODERATE	1261/1512	C421S	TCP11_HUMAN			Transcript		benign(0.292)	.	ENSP00000425995					1	
UBR2	0	LGGM	GRCh37	6	42646346	42646346	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	74	45	.	.	ENST00000372899.1:c.4548G>T	p.Leu1516=	p.L1516=	ENST00000372899	NM_015255.2	1516	ctG/ctT	0	1	1	UPI0000074466	0		ENST00000372899		ENSG00000024048	21289		119			HGNC	p.L1516L		UBR2		SNV							ENST00000372901	protein_coding			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28		L		T		4806/7857				B3KXG6_HUMAN			YES	UBR2,synonymous_variant,p.=,ENST00000372899,NM_015255.2;UBR2,synonymous_variant,p.=,ENST00000372901,;UBR2,3_prime_UTR_variant,,ENST00000372883,;							LOW	4548/5268		UBR2_HUMAN			Transcript			.	ENSP00000361990		CCDS4870.1			1	
FLG2	0	LGGM	GRCh37	1	152326479	152326479	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080212	H080212N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	131	49	.	.	ENST00000388718.5:c.3783G>T	p.Gly1261=	p.G1261=	ENST00000388718	NM_001014342.2	1261	ggG/ggT	0	1	1	UPI00004E1DE5	0		ENST00000388718		ENSG00000143520	33276		180			HGNC	p.G1261G		FLG2		SNV							ENST00000388718	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487		G		A		3856/9124							YES	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							LOW	3783/7176		FILA2_HUMAN			Transcript			.	ENSP00000373370		CCDS30861.1			1	
MUC6	0	LGGM	GRCh37	11	1017666	1017666	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	581	58	.	.	ENST00000421673.2:c.5135C>A	p.Thr1712Asn	p.T1712N	ENST00000421673	NM_005961.2	1712	aCc/aAc	0	1	1	UPI0000251DBE	0	NA	ENST00000421673		ENSG00000184956	7517		639	1.67		HGNC	p.T1712N		MUC6		SNV							ENST00000421673	protein_coding	getma.org/?cm=var&var=hg19,11,1017666,G,T&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264,Low_complexity_(Seg):seg		T/N		T	low	5186/8006		getma.org/?cm=msa&ty=f&p=MUC6_HUMAN&rb=1401&re=2199&var=T1712N		Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN			YES	MUC6,missense_variant,p.Thr1712Asn,ENST00000421673,NM_005961.2;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;							MODERATE	5135/7320	T1712N	MUC6_HUMAN			Transcript		unknown(0)	.	ENSP00000406861		CCDS44513.1			1	
RYR2	0	LGGM	GRCh37	1	237796878	237796878	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	106	66	.	.	ENST00000366574.2:c.6556G>C	p.Glu2186Gln	p.E2186Q	ENST00000366574	NM_001035.2	2186	Gaa/Caa	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		172	1.1		HGNC	p.E2186Q		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237796878,G,C&fts=all		Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		E/Q		C	low	6873/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=2121&re=2332&var=E2186Q		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Glu2186Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Glu2170Gln,ENST00000542537,;RYR2,missense_variant,p.Glu2184Gln,ENST00000360064,;							MODERATE	6556/14904	E2186Q	RYR2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000355533		CCDS55691.1			1	
OR2M2	0	LGGM	GRCh37	1	248343478	248343478	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080212	H080212N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080212N.bam, H080212T.bam	Illumina HiSeq	188	91	.	.	ENST00000359682.2:c.191G>A	p.Ser64Asn	p.S64N	ENST00000359682	NM_001004688.1	64	aGc/aAc	0	1	1	UPI00001612E4	0	getma.org/pdb.php?prot=OR2M2_HUMAN&from=1&to=138&var=S64N	ENST00000359682		ENSG00000198601	8268		279	3.065		HGNC	p.S64N		OR2M2		SNV							ENST00000359682	protein_coding	getma.org/?cm=var&var=hg19,1,248343478,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF204,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		S/N		A	medium	191/1044		getma.org/?cm=msa&ty=f&p=OR2M2_HUMAN&rb=1&re=138&var=S64N	deleterious(0.04)				YES	OR2M2,missense_variant,p.Ser64Asn,ENST00000359682,NM_001004688.1;							MODERATE	191/1044	S64N	OR2M2_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000352710		CCDS31106.1			1	
HSPBP1	0	LGGM	GRCh37	19	55789215	55789215	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	4	2	.	.	ENST00000255631.5:c.211-1G>T		p.X71_splice	ENST00000255631	NM_012267.4			0	1	1	UPI0000074015	0		ENST00000255631		ENSG00000133265	24989		6			HGNC	-		HSPBP1		SNV							ENST00000255631	protein_coding							A		-/1768				K7ERT9_HUMAN,K7EQQ0_HUMAN,K7EN20_HUMAN,K7EL16_HUMAN,K7EKM6_HUMAN			YES	HSPBP1,splice_acceptor_variant,,ENST00000255631,NM_012267.4,NM_001130106.1;HSPBP1,splice_acceptor_variant,,ENST00000433386,;HSPBP1,splice_acceptor_variant,,ENST00000587922,;HSPBP1,splice_acceptor_variant,,ENST00000376343,;HSPBP1,splice_acceptor_variant,,ENST00000593263,;HSPBP1,splice_acceptor_variant,,ENST00000588971,;HSPBP1,splice_acceptor_variant,,ENST00000585698,;HSPBP1,intron_variant,,ENST00000585927,;HSPBP1,intron_variant,,ENST00000587959,;BRSK1,upstream_gene_variant,,ENST00000590333,;HSPBP1,downstream_gene_variant,,ENST00000587551,;BRSK1,upstream_gene_variant,,ENST00000592539,;							HIGH	211/1080		HPBP1_HUMAN			Transcript			.	ENSP00000255631		CCDS33111.1			1	
MYOM2	0	LGGM	GRCh37	8	2020507	2020507	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	1	2	.	.	ENST00000262113.4:c.876C>T	p.Gly292=	p.G292=	ENST00000262113	NM_003970.2	292	ggC/ggT	0	1	1	UPI000013D260	0		ENST00000262113		ENSG00000036448	7614	8.66E-05	3			HGNC	p.G292G	rs371192020	MYOM2	0.0222	SNV				9.66E-05			ENST00000262113	protein_coding		T:0	Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF48,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G		T		1017/5014	3.01E-05			E7EWH9_HUMAN	T:0	T:0	YES	MYOM2,synonymous_variant,p.=,ENST00000262113,NM_003970.2;MYOM2,intron_variant,,ENST00000523438,;	0.000116	T:0.0056					LOW	876/4398		MYOM2_HUMAN		T:0	Transcript			common_variant	ENSP00000262113	0.0031	CCDS5957.1	0.00552	T:0.0286	1	
YJU2B	0	LGGM	GRCh37	19	13873811	13873811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	3	2	.	.	ENST00000586600.1:c.1120C>A	p.Pro374Thr	p.P374T	ENST00000586600		374	Ccc/Acc	0	1		UPI0000071AFB	0	NA	ENST00000221554		ENSG00000104957	28118		5	0		HGNC	p.P374T		CCDC130		SNV							ENST00000221554	protein_coding	getma.org/?cm=var&var=hg19,19,13873811,C,A&fts=all		hmmpanther:PTHR12111:SF2,hmmpanther:PTHR12111,Pfam_domain:PF04502		P/T		A	neutral	1497/1792		getma.org/?cm=msa&ty=f&p=CC130_HUMAN&rb=1&re=396&var=P374T	tolerated_low_confidence(0.61)	K7EPA5_HUMAN,K7ELI4_HUMAN				CCDC130,missense_variant,p.Pro374Thr,ENST00000586600,;CCDC130,missense_variant,p.Pro374Thr,ENST00000221554,NM_030818.2;CCDC130,3_prime_UTR_variant,,ENST00000585844,;MRI1,upstream_gene_variant,,ENST00000319545,NM_032285.2;MRI1,upstream_gene_variant,,ENST00000040663,NM_001031727.2;CCDC130,downstream_gene_variant,,ENST00000586666,;MRI1,upstream_gene_variant,,ENST00000593245,;CCDC130,downstream_gene_variant,,ENST00000589096,;CCDC130,downstream_gene_variant,,ENST00000589669,;CCDC130,downstream_gene_variant,,ENST00000588809,;CCDC130,downstream_gene_variant,,ENST00000587019,;CCDC130,non_coding_transcript_exon_variant,,ENST00000593174,;CCDC130,downstream_gene_variant,,ENST00000588071,;CCDC130,downstream_gene_variant,,ENST00000540216,;MRI1,upstream_gene_variant,,ENST00000591688,;MRI1,upstream_gene_variant,,ENST00000588526,;MRI1,upstream_gene_variant,,ENST00000589290,;							MODERATE	1120/1191	P374T	CC130_HUMAN			Transcript		benign(0.001)	.	ENSP00000221554		CCDS12296.1			1	
SLAIN1	0	LGGM	GRCh37	13	78318552	78318552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	10	2	.	.	ENST00000488699.1:c.409C>A	p.Arg137Ser	p.R137S	ENST00000488699	NM_001040153.3	137	Cgt/Agt	0	1		UPI0000DBEEB4	0	NA	ENST00000466548		ENSG00000139737	26387		12	2.545		HGNC	p.R16S		SLAIN1		SNV							ENST00000351546	protein_coding	getma.org/?cm=var&var=hg19,13,78318552,C,A&fts=all		hmmpanther:PTHR22406,hmmpanther:PTHR22406:SF2,Pfam_domain:PF15301		R/S		A	medium	861/2637		getma.org/?cm=msa&ty=f&p=SLAI1_HUMAN&rb=156&re=566&var=R279S	deleterious(0)	Q5T6P2_HUMAN,C9JUW9_HUMAN,C9JP03_HUMAN				SLAIN1,missense_variant,p.Arg279Ser,ENST00000466548,NM_001242868.1;SLAIN1,missense_variant,p.Arg60Ser,ENST00000418532,;SLAIN1,missense_variant,p.Arg16Ser,ENST00000351546,NM_001242871.1,NM_001242870.1,NM_144595.3;SLAIN1,missense_variant,p.Arg60Ser,ENST00000267219,;SLAIN1,missense_variant,p.Arg16Ser,ENST00000358679,;SLAIN1,missense_variant,p.Arg16Ser,ENST00000314070,NM_001242869.1;SLAIN1,missense_variant,p.Arg137Ser,ENST00000488699,NM_001040153.3;SLAIN1,missense_variant,p.Arg16Ser,ENST00000441784,;SLAIN1,missense_variant,p.Arg110Ser,ENST00000446759,;SLAIN1,missense_variant,p.Arg60Ser,ENST00000442759,;SLAIN1,missense_variant,p.Arg16Ser,ENST00000462234,;SLAIN1,missense_variant,p.Arg16Ser,ENST00000496045,;SLAIN1,missense_variant,p.Arg16Ser,ENST00000474663,;SLAIN1,missense_variant,p.Arg60Ser,ENST00000422114,;SLAIN1,downstream_gene_variant,,ENST00000377236,;SLAIN1,downstream_gene_variant,,ENST00000481614,;SLAIN1,non_coding_transcript_exon_variant,,ENST00000465831,;							MODERATE	835/1707	R279S	SLAI1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000419730					1	
BDNF	0	LGGM	GRCh37	11	27695617	27695617	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	6	2	.	.	ENST00000438929.1:c.215G>T	p.Gly72Val	p.G72V	ENST00000438929	NM_001143810.1	72	gGt/gTt	0	1		UPI000000D7A6	0		ENST00000356660		ENSG00000176697	1033		8			HGNC	p.G72V		BDNF		SNV			1				ENST00000438929	protein_coding							A		-/4018				S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN				BDNF,missense_variant,p.Gly72Val,ENST00000438929,NM_001143810.1;BDNF,5_prime_UTR_variant,,ENST00000420794,NM_001143811.1;BDNF,intron_variant,,ENST00000314915,NM_170731.4;BDNF,intron_variant,,ENST00000418212,NM_001143814.1;BDNF,intron_variant,,ENST00000395981,NM_170732.4;BDNF,intron_variant,,ENST00000395980,NM_170733.3;BDNF,intron_variant,,ENST00000356660,NM_001709.4;BDNF,intron_variant,,ENST00000533246,NM_001143813.1;BDNF,intron_variant,,ENST00000395978,NM_001143806.1;BDNF,intron_variant,,ENST00000395986,NM_170734.3;BDNF,intron_variant,,ENST00000532997,NM_001143807.1;BDNF,intron_variant,,ENST00000530861,NM_001143812.1;BDNF,intron_variant,,ENST00000533131,;BDNF,intron_variant,,ENST00000525950,NM_001143805.1;BDNF,intron_variant,,ENST00000395983,NM_001143808.1,NM_001143809.1;BDNF-AS,intron_variant,,ENST00000499008,;BDNF-AS,intron_variant,,ENST00000499568,;BDNF-AS,intron_variant,,ENST00000501176,;BDNF-AS,intron_variant,,ENST00000500662,;BDNF-AS,intron_variant,,ENST00000502161,;BDNF-AS,intron_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000501663,;BDNF,intron_variant,,ENST00000584049,;BDNF,missense_variant,p.Gly72Val,ENST00000530786,;							MODIFIER	-/744		BDNF_HUMAN			Transcript			.	ENSP00000349084		CCDS7866.1			1	
MRPL28	0	LGGM	GRCh37	16	417711	417711	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	3	2	.	.	ENST00000199706.8:c.735G>T	p.Glu245Asp	p.E245D	ENST00000199706	NM_006428.4	245	gaG/gaT	0	1	1	UPI00001678A4	0	NA	ENST00000199706		ENSG00000086504	14484		5	2.32		HGNC	p.E245D		MRPL28		SNV							ENST00000389675	protein_coding	getma.org/?cm=var&var=hg19,16,417711,C,A&fts=all		hmmpanther:PTHR13528,hmmpanther:PTHR13528:SF0		E/D		A	medium	771/1098		getma.org/?cm=msa&ty=f&p=RM28_HUMAN&rb=201&re=256&var=E245D	deleterious(0.02)	Q4TT37_HUMAN,A2IDC7_HUMAN,A2IDC6_HUMAN			YES	MRPL28,missense_variant,p.Glu245Asp,ENST00000199706,NM_006428.4;MRPL28,missense_variant,p.Glu245Asp,ENST00000389675,;MRPL28,intron_variant,,ENST00000429738,;TMEM8A,downstream_gene_variant,,ENST00000431232,NM_021259.2;TMEM8A,downstream_gene_variant,,ENST00000250930,;TMEM8A,downstream_gene_variant,,ENST00000448854,;TMEM8A,downstream_gene_variant,,ENST00000424078,;MRPL28,downstream_gene_variant,,ENST00000441883,;MRPL28,downstream_gene_variant,,ENST00000447696,;MRPL28,downstream_gene_variant,,ENST00000450882,;MRPL28,non_coding_transcript_exon_variant,,ENST00000481453,;MRPL28,non_coding_transcript_exon_variant,,ENST00000483764,;MRPL28,non_coding_transcript_exon_variant,,ENST00000461550,;MRPL28,non_coding_transcript_exon_variant,,ENST00000469744,;							MODERATE	735/771	E245D	RM28_HUMAN			Transcript		possibly_damaging(0.782)	.	ENSP00000199706		CCDS32349.1			1	
AIP	0	LGGM	GRCh37	11	67258390	67258390	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	4	2	.	.	ENST00000279146.3:c.919C>A	p.Gln307Lys	p.Q307K	ENST00000279146	NM_003977.2	307	Cag/Aag	0	1	1	UPI000013DBC1	0	NA	ENST00000279146		ENSG00000110711	358		6	-0.28		HGNC	p.Q307K		AIP		SNV			1				ENST00000279146	protein_coding	getma.org/?cm=var&var=hg19,11,67258390,C,A&fts=all		hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF3,Superfamily_domains:SSF48452		Q/K		A	neutral	1037/1221		getma.org/?cm=msa&ty=f&p=AIP_HUMAN&rb=296&re=330&var=Q307K	tolerated(0.6)	E5L4L0_HUMAN,B3TMT2_HUMAN,A8BQF1_HUMAN,A7YDK7_HUMAN,A7YDK6_HUMAN,A7YDK2_HUMAN,A7YDK1_HUMAN,A7KS94_HUMAN,A7KS93_HUMAN,A3RDR8_HUMAN			YES	AIP,missense_variant,p.Gln307Lys,ENST00000279146,NM_003977.2;PITPNM1,downstream_gene_variant,,ENST00000356404,NM_001130848.1,NM_004910.2;PITPNM1,downstream_gene_variant,,ENST00000436757,;PITPNM1,downstream_gene_variant,,ENST00000534749,;AIP,downstream_gene_variant,,ENST00000528641,;AIP,downstream_gene_variant,,ENST00000525341,;PITPNM1,downstream_gene_variant,,ENST00000526450,;PITPNM1,downstream_gene_variant,,ENST00000526602,;PITPNM1,downstream_gene_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000527370,;AIP,downstream_gene_variant,,ENST00000529797,;							MODERATE	919/993	Q307K	AIP_HUMAN			Transcript		benign(0)	.	ENSP00000279146		CCDS8168.1			1	
BRCA2	0	LGGM	GRCh37	13	32893462	32893462	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	5	2	.	.	ENST00000380152.3:c.316G>T	p.Gly106Ter	p.G106*	ENST00000380152		106	Gga/Tga	0	1		UPI00001FCBCC	0	NA	ENST00000380152		ENSG00000139618	1101		7	0		HGNC	p.G106X		BRCA2		SNV			1				ENST00000544455	protein_coding	getma.org/?cm=var&var=hg19,13,32893462,G,T&fts=all		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397		G/*		T	NA	549/10930		NA		Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN				BRCA2,stop_gained,p.Gly106Ter,ENST00000544455,NM_000059.3;BRCA2,stop_gained,p.Gly106Ter,ENST00000380152,;BRCA2,splice_region_variant,,ENST00000530893,;ZAR1L,upstream_gene_variant,,ENST00000533490,;							HIGH	316/10257	G106*	BRCA2_HUMAN			Transcript			.	ENSP00000369497		CCDS9344.1			1	
IZUMO4	0	LGGM	GRCh37	19	2097130	2097130	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	6	2	.	.	ENST00000395301.3:c.186G>A	p.Lys62=	p.K62=	ENST00000395301	NM_001039846.1	62	aaG/aaA	0	1	1	UPI00001D8219	0		ENST00000395301		ENSG00000099840	26950		8			HGNC	p.K109K		IZUMO4		SNV							ENST00000395307	protein_coding			Pfam_domain:PF15005		K		A		250/998				Q7LE06_HUMAN,B4DFG3_HUMAN			YES	IZUMO4,synonymous_variant,p.=,ENST00000395307,NM_001031735.2;IZUMO4,synonymous_variant,p.=,ENST00000395301,NM_001039846.1;IZUMO4,synonymous_variant,p.=,ENST00000395296,;AP3D1,downstream_gene_variant,,ENST00000355272,NM_001261826.1;AP3D1,downstream_gene_variant,,ENST00000345016,NM_003938.6;AP3D1,downstream_gene_variant,,ENST00000356926,;AP3D1,downstream_gene_variant,,ENST00000350812,;MOB3A,upstream_gene_variant,,ENST00000357066,NM_130807.2;MOB3A,upstream_gene_variant,,ENST00000589902,;MOB3A,upstream_gene_variant,,ENST00000591236,;MOB3A,upstream_gene_variant,,ENST00000588048,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000588003,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000497445,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000478879,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000481489,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000498554,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000591894,;IZUMO4,non_coding_transcript_exon_variant,,ENST00000590985,;AP3D1,downstream_gene_variant,,ENST00000585652,;AP3D1,downstream_gene_variant,,ENST00000589223,;AP3D1,downstream_gene_variant,,ENST00000591650,;IZUMO4,upstream_gene_variant,,ENST00000593185,;							LOW	186/699		IZUM4_HUMAN			Transcript			.	ENSP00000378712		CCDS42458.1			1	
CCDC60	0	LGGM	GRCh37	12	119866566	119866566	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	7	2	.	.	ENST00000327554.2:c.169C>A	p.Arg57Ser	p.R57S	ENST00000327554	NM_178499.3	57	Cgc/Agc	0	1	1	UPI000019906E	0	NA	ENST00000327554		ENSG00000183273	28610		9	0.49		HGNC	p.R57S		CCDC60		SNV							ENST00000536742	protein_coding	getma.org/?cm=var&var=hg19,12,119866566,C,A&fts=all				R/S		A	neutral	634/2450		getma.org/?cm=msa&ty=f&p=CCD60_HUMAN&rb=31&re=381&var=R57S	tolerated(0.12)	F5H5H4_HUMAN			YES	CCDC60,missense_variant,p.Arg57Ser,ENST00000327554,NM_178499.3;CCDC60,missense_variant,p.Arg57Ser,ENST00000536742,;CCDC60,synonymous_variant,p.=,ENST00000539847,;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;CCDC60,splice_region_variant,,ENST00000546345,;CCDC60,splice_region_variant,,ENST00000535685,;							MODERATE	169/1653	R57S	CCD60_HUMAN			Transcript		benign(0.107)	.	ENSP00000333374		CCDS9190.1			1	
C9orf24	0	LGGM	GRCh37	9	34381090	34381090	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	7	2	.	.	ENST00000297623.2:c.512G>C	p.Arg171Pro	p.R171P	ENST00000297623	NM_032596.3	171	cGg/cCg	0	1	1	UPI000006E5B3	0	NA	ENST00000297623		ENSG00000164972	19919		9	0.975		HGNC	p.R36P		C9orf24		SNV							ENST00000379124	protein_coding	getma.org/?cm=var&var=hg19,9,34381090,C,G&fts=all		Pfam_domain:PF15181		R/P		G	low	711/1151		getma.org/?cm=msa&ty=f&p=SMRP1_HUMAN&rb=1&re=200&var=R171P	tolerated(0.05)				YES	C9orf24,missense_variant,p.Arg171Pro,ENST00000297623,NM_032596.3;C9orf24,missense_variant,p.Arg36Pro,ENST00000379133,NM_001252195.1,NM_147168.1;C9orf24,missense_variant,p.Arg36Pro,ENST00000379124,;C9orf24,missense_variant,p.Arg36Pro,ENST00000379127,;C9orf24,missense_variant,p.Arg36Pro,ENST00000379126,NM_147169.2;KIAA1161,upstream_gene_variant,,ENST00000297625,NM_020702.3;C9orf24,downstream_gene_variant,,ENST00000444429,;C9orf24,upstream_gene_variant,,ENST00000481295,;							MODERATE	512/789	R171P	SMRP1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000297623		CCDS6554.1			1	
NTM	0	LGGM	GRCh37	11	131781543	131781543	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	20	3	.	.	ENST00000425719.2:c.167+1G>T		p.X56_splice	ENST00000425719				0	1		UPI00001305C6	0		ENST00000374786		ENSG00000182667	17941		23			HGNC	-		NTM		SNV							ENST00000374791	protein_coding							T		-/3190								NTM,splice_donor_variant,,ENST00000374786,NM_001144058.1,NM_016522.2;NTM,splice_donor_variant,,ENST00000374791,NM_001048209.1;NTM,splice_donor_variant,,ENST00000425719,;NTM,splice_donor_variant,,ENST00000374784,NM_001144059.1;NTM,splice_donor_variant,,ENST00000539799,;NTM,splice_donor_variant,,ENST00000427481,;NTM,splice_donor_variant,,ENST00000550167,;NTM,downstream_gene_variant,,ENST00000436745,;NTM,splice_donor_variant,,ENST00000498764,;NTM,splice_donor_variant,,ENST00000463395,;NTM,downstream_gene_variant,,ENST00000470371,;NTM,splice_donor_variant,,ENST00000479431,;							HIGH	167/1035		NTRI_HUMAN			Transcript			.	ENSP00000363918		CCDS8491.1			1	
MPI	0	LGGM	GRCh37	15	75188642	75188642	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	14	3	.	.	ENST00000352410.4:c.820G>A	p.Val274Ile	p.V274I	ENST00000352410		274	Gta/Ata	0	1	1	UPI000000DB74	0	getma.org/pdb.php?prot=MPI_HUMAN&from=6&to=382&var=V274I	ENST00000352410		ENSG00000178802	7216		17	0.98		HGNC	p.V274I	rs766010024	MPI		SNV			1	9.64E-05			ENST00000566377	protein_coding	getma.org/?cm=var&var=hg19,15,75188642,G,A&fts=all		hmmpanther:PTHR10309:SF0,hmmpanther:PTHR10309,Gene3D:2.60.120.10,TIGRFAM_domain:TIGR00218,Pfam_domain:PF01238,PIRSF_domain:PIRSF001480,Superfamily_domains:SSF51182,Prints_domain:PR00714		V/I		A	low	887/3066	1.50E-05	getma.org/?cm=msa&ty=f&p=MPI_HUMAN&rb=6&re=382&var=V274I	tolerated(0.97)	H3BPU7_HUMAN,H3BPM5_HUMAN,H3BPB8_HUMAN,H3BP57_HUMAN,F5GX71_HUMAN			YES	MPI,missense_variant,p.Val274Ile,ENST00000352410,;MPI,missense_variant,p.Val274Ile,ENST00000566377,;MPI,missense_variant,p.Val254Ile,ENST00000563786,NM_002435.1;MPI,missense_variant,p.Val213Ile,ENST00000323744,;MPI,missense_variant,p.Val224Ile,ENST00000535694,;MPI,missense_variant,p.Val274Ile,ENST00000563422,;MPI,missense_variant,p.Val163Ile,ENST00000564003,;MPI,missense_variant,p.Val200Ile,ENST00000567177,;MPI,missense_variant,p.Val254Ile,ENST00000562606,;MPI,missense_variant,p.Val254Ile,ENST00000569931,;MPI,intron_variant,,ENST00000562800,;FAM219B,downstream_gene_variant,,ENST00000357635,NM_020447.3;FAM219B,downstream_gene_variant,,ENST00000563119,;MPI,downstream_gene_variant,,ENST00000565576,;MPI,downstream_gene_variant,,ENST00000567570,;MPI,downstream_gene_variant,,ENST00000564633,;MPI,downstream_gene_variant,,ENST00000568828,;MPI,downstream_gene_variant,,ENST00000567132,;MPI,downstream_gene_variant,,ENST00000569233,;MPI,downstream_gene_variant,,ENST00000568907,;CTD-2235H24.2,upstream_gene_variant,,ENST00000564692,;FAM219B,downstream_gene_variant,,ENST00000564723,;MPI,non_coding_transcript_exon_variant,,ENST00000566556,;FAM219B,downstream_gene_variant,,ENST00000566894,;FAM219B,downstream_gene_variant,,ENST00000569524,;MPI,downstream_gene_variant,,ENST00000568840,;FAM219B,downstream_gene_variant,,ENST00000563671,;MPI,downstream_gene_variant,,ENST00000561470,;FAM219B,downstream_gene_variant,,ENST00000566132,;MPI,downstream_gene_variant,,ENST00000567116,;							MODERATE	820/1272	V274I	MPI_HUMAN			Transcript		benign(0.066)	.	ENSP00000318318	1.65E-05	CCDS10272.1			1	
S100A6	0	LGGM	GRCh37	1	153507189	153507189	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	42	3	.	.	ENST00000368720.2:c.256G>T	p.Glu86Ter	p.E86*	ENST00000368720		86	Gaa/Taa	0	1		UPI000003417F	0		ENST00000368719		ENSG00000197956	10496		45			HGNC	p.E86X		S100A6		SNV							ENST00000368720	protein_coding			hmmpanther:PTHR11639:SF52,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		E/*		A		551/665				R4GN98_HUMAN				S100A6,stop_gained,p.Glu86Ter,ENST00000368720,;S100A6,stop_gained,p.Glu86Ter,ENST00000496817,;S100A6,stop_gained,p.Glu86Ter,ENST00000368719,NM_014624.3;S100A5,downstream_gene_variant,,ENST00000359215,;S100A5,downstream_gene_variant,,ENST00000368718,NM_002962.1;S100A5,downstream_gene_variant,,ENST00000368717,;S100A6,downstream_gene_variant,,ENST00000462776,;BX470102.3,intron_variant,,ENST00000420695,;S100A6,downstream_gene_variant,,ENST00000462951,;							HIGH	256/273		S10A6_HUMAN			Transcript			.	ENSP00000357708		CCDS1040.1			1	
PLA2G4E	0	LGGM	GRCh37	15	42282387	42282387	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	45	3	.	.	ENST00000399518.3:c.1517G>A	p.Gly506Asp	p.G506D	ENST00000399518	NM_001206670.1	506	gGc/gAc	0	1	1	UPI0000E59BE5	0	getma.org/pdb.php?prot=PA24E_HUMAN&from=362&to=622&var=G494D	ENST00000399518		ENSG00000188089	24791		48	3.03		HGNC	p.G506D	rs778082867	PLA2G4E		SNV							ENST00000399518	protein_coding	getma.org/?cm=var&var=hg19,15,42282387,C,T&fts=all		PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF24,Gene3D:3.40.1090.10,Pfam_domain:PF01735,SMART_domains:SM00022,Superfamily_domains:SSF52151		G/D		T	medium	2004/5266		getma.org/?cm=msa&ty=f&p=PA24E_HUMAN&rb=362&re=622&var=G494D	deleterious(0)	B7WPN2_HUMAN			YES	PLA2G4E,missense_variant,p.Gly506Asp,ENST00000399518,NM_001206670.1;PLA2G4E,missense_variant,p.Gly477Asp,ENST00000413860,;CTD-2382E5.1,intron_variant,,ENST00000499478,;PLA2G4E,non_coding_transcript_exon_variant,,ENST00000547930,;PLA2G4E,non_coding_transcript_exon_variant,,ENST00000551073,;	0.000116						MODERATE	1517/2607	G494D				Transcript		probably_damaging(0.994)	.	ENSP00000382434	8.26E-06	CCDS55962.1			1	
MGAM	0	LGGM	GRCh37	7	141756728	141756728	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	46	3	.	.	ENST00000549489.2:c.3679C>A	p.Gln1227Lys	p.Q1227K	ENST00000549489	NM_004668.2	1227	Cag/Aag	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=1215&to=1717&var=Q1227K	ENST00000549489		ENSG00000257335	7043		49	0.4		HGNC	p.Q1227K		MGAM		SNV							ENST00000549489	protein_coding	getma.org/?cm=var&var=hg19,7,141756728,C,A&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055		Q/K		A	neutral	3774/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=1215&re=1717&var=Q1227K	tolerated(0.16)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Gln1227Lys,ENST00000475668,;MGAM,missense_variant,p.Gln1227Lys,ENST00000549489,NM_004668.2;							MODERATE	3679/5574	Q1227K	MGA_HUMAN			Transcript		benign(0.054)	.	ENSP00000447378		CCDS47727.1			1	
INF2	0	LGGM	GRCh37	14	105178800	105178800	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	20	3	.	.	ENST00000392634.4:c.2520C>A	p.Ala840=	p.A840=	ENST00000392634	NM_022489.3	840	gcC/gcA	0	1	1	UPI000156D0FB	0		ENST00000392634		ENSG00000203485	23791		23			HGNC	p.A840A		INF2		SNV			1				ENST00000330634	protein_coding			PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		A		A		2632/4672							YES	INF2,synonymous_variant,p.=,ENST00000392634,NM_022489.3;INF2,synonymous_variant,p.=,ENST00000330634,NM_001031714.3;INF2,synonymous_variant,p.=,ENST00000252527,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,non_coding_transcript_exon_variant,,ENST00000480763,;INF2,downstream_gene_variant,,ENST00000474229,;INF2,upstream_gene_variant,,ENST00000477497,;							LOW	2520/3750		INF2_HUMAN			Transcript			.	ENSP00000376410		CCDS9989.2			1	
BMPR1A	0	LGGM	GRCh37	10	88672035	88672035	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	36	3	.	.	ENST00000372037.3:c.569A>G	p.Asn190Ser	p.N190S	ENST00000372037	NM_004329.2	190	aAt/aGt	0	1	1	UPI000006EB08	0	NA	ENST00000372037	uncertain_significance	ENSG00000107779	1076		39	0.405		HGNC	p.N190S	rs574229174,COSM3978872,COSM3978873	BMPR1A		SNV			1			1,1,1	ENST00000372037	protein_coding	getma.org/?cm=var&var=hg19,10,88672035,A,G&fts=all	G:0	hmmpanther:PTHR23255:SF50,hmmpanther:PTHR23255		N/S		G	neutral	1106/11255		getma.org/?cm=msa&ty=f&p=BMR1A_HUMAN&rb=139&re=203&var=N190S	tolerated(0.82)		G:0	G:0.001	YES	BMPR1A,missense_variant,p.Asn190Ser,ENST00000372037,NM_004329.2;		G:0.0002			0,1,1		MODERATE	569/1599	N190S	BMR1A_HUMAN		G:0	Transcript		benign(0.084)	.	ENSP00000361107		CCDS7378.1		G:0	1	
SORBS1	0	LGGM	GRCh37	10	97111040	97111040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	46	3	.	.	ENST00000371247.2:c.2308C>A	p.Gln770Lys	p.Q770K	ENST00000371247		770	Cag/Aag	0	1		UPI000013D6B7	0	NA	ENST00000361941		ENSG00000095637	14565		49	1.795		HGNC	p.Q740K		SORBS1		SNV							ENST00000393949	protein_coding	getma.org/?cm=var&var=hg19,10,97111040,G,T&fts=all		hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF4		Q/K		T	low	2335/3940		getma.org/?cm=msa&ty=f&p=SRBS1_HUMAN&rb=613&re=796&var=Q770K	deleterious(0)					SORBS1,missense_variant,p.Gln770Lys,ENST00000371247,;SORBS1,missense_variant,p.Gln724Lys,ENST00000371227,;SORBS1,missense_variant,p.Gln792Lys,ENST00000371246,;SORBS1,missense_variant,p.Gln740Lys,ENST00000393949,;SORBS1,missense_variant,p.Gln621Lys,ENST00000353505,;SORBS1,missense_variant,p.Gln582Lys,ENST00000347291,;SORBS1,missense_variant,p.Gln517Lys,ENST00000306402,NM_024991.1;SORBS1,missense_variant,p.Gln1030Lys,ENST00000607232,;SORBS1,missense_variant,p.Gln770Lys,ENST00000361941,NM_001034954.1;SORBS1,missense_variant,p.Gln792Lys,ENST00000277982,NM_001034955.1;SORBS1,missense_variant,p.Gln740Lys,ENST00000354106,;SORBS1,missense_variant,p.Gln621Lys,ENST00000371245,NM_001034956.1;SORBS1,missense_variant,p.Gln547Lys,ENST00000371239,;SORBS1,intron_variant,,ENST00000371249,NM_015385.2;SORBS1,intron_variant,,ENST00000371241,NM_006434.2,NM_001034957.1;SORBS1,intron_variant,,ENST00000371228,;SORBS1,non_coding_transcript_exon_variant,,ENST00000474353,;							MODERATE	2308/3879	Q770K	SRBS1_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000355136		CCDS31255.1			1	
WDR6	0	LGGM	GRCh37	3	49049533	49049533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	33	3	.	.	ENST00000395474.3:c.656C>A	p.Pro219Gln	p.P219Q	ENST00000395474	NM_018031.3	219	cCa/cAa	0	1		UPI0000138EDD	0	NA	ENST00000608424		ENSG00000178252	12758		36	1.01		HGNC	p.P219Q		WDR6		SNV							ENST00000395474	protein_coding	getma.org/?cm=var&var=hg19,3,49049533,C,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR14344,Superfamily_domains:SSF50978		P/Q		A	low	605/4070		getma.org/?cm=msa&ty=f&p=WDR6_HUMAN&rb=1&re=200&var=P189Q	deleterious(0.03)	Q8NDH0_HUMAN,Q6PKC6_HUMAN,Q6AZD6_HUMAN,E9PDU5_HUMAN				WDR6,missense_variant,p.Pro219Gln,ENST00000395474,NM_018031.3;WDR6,missense_variant,p.Pro189Gln,ENST00000608424,;WDR6,missense_variant,p.Pro138Gln,ENST00000448293,;WDR6,missense_variant,p.Pro221Gln,ENST00000438660,;WDR6,intron_variant,,ENST00000415265,;P4HTM,downstream_gene_variant,,ENST00000343546,NM_177938.2;P4HTM,downstream_gene_variant,,ENST00000383729,NM_177939.2;DALRD3,downstream_gene_variant,,ENST00000440857,;DALRD3,downstream_gene_variant,,ENST00000313778,NM_018114.5;DALRD3,downstream_gene_variant,,ENST00000341949,NM_001009996.2;DALRD3,downstream_gene_variant,,ENST00000441576,NM_001276405.1;DALRD3,downstream_gene_variant,,ENST00000395462,;DALRD3,downstream_gene_variant,,ENST00000420952,;P4HTM,downstream_gene_variant,,ENST00000491739,;DALRD3,downstream_gene_variant,,ENST00000438585,;WDR6,downstream_gene_variant,,ENST00000489427,;WDR6,downstream_gene_variant,,ENST00000429900,;WDR6,downstream_gene_variant,,ENST00000419837,;WDR6,downstream_gene_variant,,ENST00000491365,;WDR6,non_coding_transcript_exon_variant,,ENST00000489684,;WDR6,non_coding_transcript_exon_variant,,ENST00000472878,;WDR6,non_coding_transcript_exon_variant,,ENST00000461687,;WDR6,3_prime_UTR_variant,,ENST00000452875,;WDR6,3_prime_UTR_variant,,ENST00000420783,;WDR6,3_prime_UTR_variant,,ENST00000488572,;WDR6,non_coding_transcript_exon_variant,,ENST00000471162,;P4HTM,downstream_gene_variant,,ENST00000484115,;DALRD3,downstream_gene_variant,,ENST00000498794,;P4HTM,downstream_gene_variant,,ENST00000472301,;DALRD3,downstream_gene_variant,,ENST00000460505,;DALRD3,downstream_gene_variant,,ENST00000484831,;DALRD3,downstream_gene_variant,,ENST00000467457,;DALRD3,downstream_gene_variant,,ENST00000498498,;DALRD3,downstream_gene_variant,,ENST00000472331,;DALRD3,downstream_gene_variant,,ENST00000481001,;WDR6,upstream_gene_variant,,ENST00000498023,;WDR6,downstream_gene_variant,,ENST00000462064,;WDR6,downstream_gene_variant,,ENST00000473238,;WDR6,upstream_gene_variant,,ENST00000492780,;							MODERATE	566/3366	P189Q				Transcript		probably_damaging(0.987)	.	ENSP00000477389					1	
ZCCHC14	0	LGGM	GRCh37	16	87448042	87448042	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	24	3	.	.	ENST00000268616.4:c.1170G>T	p.Ser390=	p.S390=	ENST00000268616	NM_015144.2	390	tcG/tcT	0	1	1	UPI00000705C4	0		ENST00000268616		ENSG00000140948	24134		27			HGNC	p.S390S		ZCCHC14		SNV							ENST00000268616	protein_coding			hmmpanther:PTHR16195:SF12,hmmpanther:PTHR16195		S		A		1388/7102							YES	ZCCHC14,synonymous_variant,p.=,ENST00000268616,NM_015144.2;ZCCHC14,synonymous_variant,p.=,ENST00000561928,;ZCCHC14,synonymous_variant,p.=,ENST00000568020,;ZCCHC14,downstream_gene_variant,,ENST00000565193,;							LOW	1170/2850		ZCH14_HUMAN			Transcript			.	ENSP00000268616		CCDS10961.1			1	
FIG4	0	LGGM	GRCh37	6	110083334	110083334	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	38	3	.	.	ENST00000230124.3:c.1312G>T	p.Glu438Ter	p.E438*	ENST00000230124	NM_014845.5	438	Gaa/Taa	0	1	1	UPI000000D9A3	0	NA	ENST00000230124		ENSG00000112367	16873		41	0		HGNC	p.E161X		FIG4		SNV			1				ENST00000441478	protein_coding	getma.org/?cm=var&var=hg19,6,110083334,G,T&fts=all		PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF9		E/*		T	NA	1436/3011		NA		Q5TCS4_HUMAN,Q5JRV4_HUMAN			YES	FIG4,stop_gained,p.Glu438Ter,ENST00000230124,NM_014845.5;FIG4,stop_gained,p.Glu161Ter,ENST00000441478,;FIG4,upstream_gene_variant,,ENST00000415980,;							HIGH	1312/2724	E438*	FIG4_HUMAN			Transcript			.	ENSP00000230124		CCDS5078.1			1	
PALD1	0	LGGM	GRCh37	10	72324204	72324204	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	43	3	.	.	ENST00000263563.6:c.2347C>G	p.Leu783Val	p.L783V	ENST00000263563	NM_014431.2	783	Ctc/Gtc	0	1	1	UPI00001C1EDC	0	NA	ENST00000263563		ENSG00000107719	23530		46	1.57		HGNC	p.L783V		PALD1		SNV							ENST00000263563	protein_coding	getma.org/?cm=var&var=hg19,10,72324204,C,G&fts=all		Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339		L/V		G	low	2615/4555		getma.org/?cm=msa&ty=f&p=PALD_HUMAN&rb=1&re=847&var=L783V	deleterious(0)				YES	PALD1,missense_variant,p.Leu783Val,ENST00000263563,NM_014431.2;							MODERATE	2347/2571	L783V	PALD_HUMAN			Transcript		possibly_damaging(0.511)	.	ENSP00000263563		CCDS31215.1			1	
EPB41L4A	0	LGGM	GRCh37	5	111519807	111519807	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	25	3	.	.	ENST00000261486.5:c.1528G>T	p.Asp510Tyr	p.D510Y	ENST00000261486	NM_022140.3	510	Gat/Tat	0	1	1	UPI000020C3F8	0	NA	ENST00000261486		ENSG00000129595	13278		28	2.295		HGNC	p.D510Y		EPB41L4A		SNV							ENST00000261486	protein_coding	getma.org/?cm=var&var=hg19,5,111519807,C,A&fts=all		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF11		D/Y		A	medium	1805/4707		getma.org/?cm=msa&ty=f&p=E41LA_HUMAN&rb=358&re=557&var=D510Y	deleterious(0)	Q8NEH8_HUMAN			YES	EPB41L4A,missense_variant,p.Asp510Tyr,ENST00000261486,NM_022140.3;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000507810,;EPB41L4A,upstream_gene_variant,,ENST00000509342,;EPB41L4A,non_coding_transcript_exon_variant,,ENST00000515047,;							MODERATE	1528/2061	D510Y	E41LA_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000261486		CCDS43350.1			1	
TULP3	0	LGGM	GRCh37	12	3030041	3030041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	39	3	.	.	ENST00000397132.2:c.206C>A	p.Thr69Asn	p.T69N	ENST00000397132	NM_001160408.1	69	aCt/aAt	0	1		UPI000013C8C7	0	NA	ENST00000448120		ENSG00000078246	12425		42	1.995		HGNC	p.T50N		TULP3		SNV							ENST00000540184	protein_coding	getma.org/?cm=var&var=hg19,12,3030041,C,A&fts=all		Prints_domain:PR01574,hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF26		T/N		A	medium	257/3076		getma.org/?cm=msa&ty=f&p=TULP3_HUMAN&rb=1&re=93&var=T69N	tolerated(0.14)	F5H7B9_HUMAN				TULP3,missense_variant,p.Thr69Asn,ENST00000448120,NM_003324.4;TULP3,missense_variant,p.Thr69Asn,ENST00000397132,NM_001160408.1;TULP3,intron_variant,,ENST00000544943,;TULP3,missense_variant,p.Thr50Asn,ENST00000540184,;TULP3,intron_variant,,ENST00000545331,;TULP3,intron_variant,,ENST00000538354,;							MODERATE	206/1329	T69N	TULP3_HUMAN			Transcript		possibly_damaging(0.558)	.	ENSP00000410051		CCDS8519.1			1	
ZNF629	0	LGGM	GRCh37	16	30795002	30795002	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	28	3	.	.	ENST00000262525.4:c.647G>T	p.Ser216Ile	p.S216I	ENST00000262525	NM_001080417.1	216	aGc/aTc	0	1	1	UPI00001C1FA5	0	getma.org/pdb.php?prot=ZN629_HUMAN&from=192&to=217&var=S216I	ENST00000262525		ENSG00000102870	29008		31	1.3		HGNC	p.S216I		ZNF629		SNV							ENST00000262525	protein_coding	getma.org/?cm=var&var=hg19,16,30795002,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF286,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/I		A	low	855/6079		getma.org/?cm=msa&ty=f&p=ZN629_HUMAN&rb=172&re=237&var=S216I	tolerated(0.18)				YES	ZNF629,missense_variant,p.Ser216Ile,ENST00000262525,NM_001080417.1;RP11-2C24.6,downstream_gene_variant,,ENST00000575562,;							MODERATE	647/2610	S216I	ZN629_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000262525		CCDS45463.1			1	
MAST4	0	LGGM	GRCh37	5	66459854	66459854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	37	3	.	.	ENST00000403625.2:c.4847G>T	p.Ser1616Ile	p.S1616I	ENST00000403625	NM_001164664.1	1616	aGc/aTc	0	1	1	UPI000173A2B0	0	NA	ENST00000403625		ENSG00000069020	19037		40	1.95		HGNC	p.S1619I		MAST4		SNV							ENST00000404260	protein_coding	getma.org/?cm=var&var=hg19,5,66459854,G,T&fts=all				S/I		T	medium	5142/10711		getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=1430&re=1629&var=S1619I		J3QT34_HUMAN			YES	MAST4,missense_variant,p.Ser1619Ile,ENST00000404260,;MAST4,missense_variant,p.Ser1616Ile,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Ser1437Ile,ENST00000405643,;MAST4,missense_variant,p.Ser1422Ile,ENST00000261569,;MAST4,missense_variant,p.Ser1427Ile,ENST00000403666,NM_015183.2;MAST4,missense_variant,p.Ser673Ile,ENST00000443808,;							MODERATE	4847/7872	S1619I				Transcript		benign(0.013)	.	ENSP00000385727		CCDS54861.1			1	
ADAR	0	LGGM	GRCh37	1	154560660	154560660	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	45	3	.	.	ENST00000368474.4:c.2960G>T	p.Arg987Leu	p.R987L	ENST00000368474	NM_001111.4	987	cGc/cTc	0	1	1	UPI000045626B	0	getma.org/pdb.php?prot=DSRAD_HUMAN&from=886&to=1217&var=R987L	ENST00000368474		ENSG00000160710	225		48	0.655		HGNC	p.R1030L		ADAR		SNV			1				ENST00000292205	protein_coding	getma.org/?cm=var&var=hg19,1,154560660,C,A&fts=all		Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,SMART_domains:SM00552		R/L		A	neutral	3160/6620		getma.org/?cm=msa&ty=f&p=DSRAD_HUMAN&rb=886&re=1217&var=R987L	tolerated(0.09)				YES	ADAR,missense_variant,p.Arg987Leu,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,missense_variant,p.Arg1030Leu,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,missense_variant,p.Arg692Leu,ENST00000368471,;ADAR,missense_variant,p.Arg956Leu,ENST00000529168,;ADAR,non_coding_transcript_exon_variant,,ENST00000534279,;ADAR,non_coding_transcript_exon_variant,,ENST00000530954,;ADAR,upstream_gene_variant,,ENST00000492630,;							MODERATE	2960/3681	R987L	DSRAD_HUMAN			Transcript		benign(0.078)	.	ENSP00000357459		CCDS1071.1			1	
AOC2	0	LGGM	GRCh37	17	40997351	40997351	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	28	3	.	.	ENST00000253799.3:c.708C>A	p.Pro236=	p.P236=	ENST00000253799	NM_009590.2	236	ccC/ccA	0	1	1	UPI000013CDF4	0		ENST00000253799		ENSG00000131480	549		31			HGNC	p.P236P		AOC2		SNV							ENST00000253799	protein_coding			Prints_domain:PR00766,Superfamily_domains:SSF54416,Gene3D:3.10.450.40,Pfam_domain:PF02728,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4		P		A		735/2657							YES	AOC2,synonymous_variant,p.=,ENST00000253799,NM_009590.2;AOC2,synonymous_variant,p.=,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,;							LOW	708/2271		AOC2_HUMAN			Transcript			.	ENSP00000253799		CCDS11443.1			1	
CRYM	0	LGGM	GRCh37	16	21272624	21272624	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	18	3	.	.	ENST00000219599.3:c.831G>T	p.Lys277Asn	p.K277N	ENST00000219599	NM_001888.3	277	aaG/aaT	0	1	1	UPI00001284E5	0	getma.org/pdb.php?prot=CRYM_HUMAN&from=3&to=314&var=K277N	ENST00000219599		ENSG00000103316	2418		21	-0.59		HGNC	p.K235N		CRYM		SNV			1				ENST00000415987	protein_coding	getma.org/?cm=var&var=hg19,16,21272624,C,A&fts=all		hmmpanther:PTHR13812:SF19,hmmpanther:PTHR13812,Pfam_domain:PF02423,Gene3D:3.40.50.720,PIRSF_domain:PIRSF001439,Superfamily_domains:SSF51735		K/N		A	neutral	1097/1471		getma.org/?cm=msa&ty=f&p=CRYM_HUMAN&rb=3&re=314&var=K277N	tolerated(0.74)	I3NI53_HUMAN,I3L3J9_HUMAN,I3L325_HUMAN,H9KVC2_HUMAN			YES	CRYM,missense_variant,p.Lys277Asn,ENST00000219599,NM_001888.3;CRYM,missense_variant,p.Lys277Asn,ENST00000543948,;CRYM,missense_variant,p.Lys235Asn,ENST00000415987,;CRYM,missense_variant,p.Lys277Asn,ENST00000396023,;CRYM,missense_variant,p.Lys235Asn,ENST00000576703,NM_001014444.2;CRYM,missense_variant,p.Lys53Asn,ENST00000570401,;CRYM,3_prime_UTR_variant,,ENST00000574448,;CRYM,non_coding_transcript_exon_variant,,ENST00000571666,;CRYM,non_coding_transcript_exon_variant,,ENST00000572113,;							MODERATE	831/945	K277N	CRYM_HUMAN			Transcript		benign(0)	.	ENSP00000219599		CCDS10597.1			1	
ARID5B	0	LGGM	GRCh37	10	63829469	63829469	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	35	3	.	.	ENST00000279873.7:c.1112G>T	p.Arg371Leu	p.R371L	ENST00000279873	NM_032199.2	371	cGc/cTc	0	1	1	UPI00001606F0	0	getma.org/pdb.php?prot=ARI5B_HUMAN&from=315&to=406&var=R371L	ENST00000279873		ENSG00000150347	17362		38	1.995		HGNC	p.R128L		ARID5B		SNV			1				ENST00000309334	protein_coding	getma.org/?cm=var&var=hg19,10,63829469,G,T&fts=all		Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774		R/L		T	medium	1522/7891		getma.org/?cm=msa&ty=f&p=ARI5B_HUMAN&rb=315&re=406&var=R371L	deleterious(0)				YES	ARID5B,missense_variant,p.Arg371Leu,ENST00000279873,NM_032199.2;ARID5B,missense_variant,p.Arg128Leu,ENST00000309334,NM_001244638.1;							MODERATE	1112/3567	R371L	ARI5B_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000279873		CCDS31208.1			1	
SYNE1	0	LGGM	GRCh37	6	152772269	152772269	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	47	3	.	.	ENST00000367255.5:c.3099C>A	p.Ala1033=	p.A1033=	ENST00000367255	NM_182961.3	1033	gcC/gcA	0	1	1	UPI000204AF58	0		ENST00000367255		ENSG00000131018	17089		50			HGNC	p.A1040A		SYNE1		SNV			1				ENST00000423061	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		A		T		3701/27748							YES	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,synonymous_variant,p.=,ENST00000367248,;SYNE1,synonymous_variant,p.=,ENST00000367253,;SYNE1,synonymous_variant,p.=,ENST00000413186,;SYNE1,downstream_gene_variant,,ENST00000495090,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,downstream_gene_variant,,ENST00000474655,;							LOW	3099/26394		SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
STIM2	0	LGGM	GRCh37	4	27024148	27024148	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	33	3	.	.	ENST00000465503.1:c.1795C>T	p.Pro599Ser	p.P599S	ENST00000465503		599	Cca/Tca	0	1		UPI000013CA13	0	NA	ENST00000467087		ENSG00000109689	19205		36	0.69		HGNC	p.P591S		STIM2		SNV							ENST00000467087	protein_coding	getma.org/?cm=var&var=hg19,4,27024148,C,T&fts=all		hmmpanther:PTHR15136:SF2,hmmpanther:PTHR15136		P/S		T	neutral	2299/5154		getma.org/?cm=msa&ty=f&p=STIM2_HUMAN&rb=403&re=602&var=P591S	tolerated_low_confidence(0.37)	R4GNC5_HUMAN,R4GN82_HUMAN,R4GMP0_HUMAN,Q05BJ5_HUMAN				STIM2,missense_variant,p.Pro686Ser,ENST00000382009,NM_001169118.1;STIM2,missense_variant,p.Pro591Ser,ENST00000467087,NM_020860.3;STIM2,missense_variant,p.Pro678Ser,ENST00000237364,;STIM2,missense_variant,p.Pro599Ser,ENST00000465503,;STIM2,synonymous_variant,p.=,ENST00000473519,;STIM2,3_prime_UTR_variant,,ENST00000467011,NM_001169117.1;STIM2,3_prime_UTR_variant,,ENST00000412829,;STIM2,downstream_gene_variant,,ENST00000477474,;STIM2,non_coding_transcript_exon_variant,,ENST00000504511,;							MODERATE	1771/2241	P591S	STIM2_HUMAN			Transcript		benign(0.117)	.	ENSP00000419073		CCDS3440.2			1	
ACY1	0	LGGM	GRCh37	3	52020455	52020455	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	5	3	.	.	ENST00000404366.2:c.461G>A	p.Gly154Asp	p.G154D	ENST00000404366	NM_000666.2	154	gGc/gAc	0	1	1	UPI00001254AD	0	getma.org/pdb.php?prot=ACY1_HUMAN&from=76&to=397&var=G154D	ENST00000404366		ENSG00000243989	177		8	2.615		HGNC	p.G119D	rs747746548	ACY1		SNV			1				ENST00000476351	protein_coding	getma.org/?cm=var&var=hg19,3,52020455,G,A&fts=all		Gene3D:3.40.630.10,Pfam_domain:PF01546,PIRSF_domain:PIRSF036696,hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF8,Superfamily_domains:SSF53187,TIGRFAM_domain:TIGR01880		G/D		A	medium	607/1444	1.73E-05	getma.org/?cm=msa&ty=f&p=ACY1_HUMAN&rb=76&re=397&var=G154D	deleterious(0)				YES	ACY1,missense_variant,p.Gly244Asp,ENST00000458031,;ABHD14A-ACY1,missense_variant,p.Gly255Asp,ENST00000463937,;ACY1,missense_variant,p.Gly154Asp,ENST00000404366,NM_000666.2,NM_001198895.1;ACY1,missense_variant,p.Gly119Asp,ENST00000476351,NM_001198898.1;ACY1,missense_variant,p.Gly154Asp,ENST00000476854,NM_001198897.1;ACY1,missense_variant,p.Gly163Asp,ENST00000469863,;ACY1,intron_variant,,ENST00000494103,NM_001198896.1;ABHD14B,upstream_gene_variant,,ENST00000483233,;ACY1,non_coding_transcript_exon_variant,,ENST00000464587,;ACY1,downstream_gene_variant,,ENST00000468068,;ACY1,upstream_gene_variant,,ENST00000490244,;ACY1,missense_variant,p.Gly154Asp,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,;							MODERATE	461/1227	G154D	ACY1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000384296	8.24E-06	CCDS2844.1			1	
C17orf97	0	LGGM	GRCh37	17	263697	263697	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	21	3	.	.	ENST00000360127.6:c.1063T>A	p.Phe355Ile	p.F355I	ENST00000360127	NM_001013672.4	355	Ttc/Atc	0	1	1	UPI0001AE65CA	0	NA	ENST00000360127		ENSG00000187624	33800		24	0.345		HGNC	p.F355I		C17orf97		SNV							ENST00000360127	protein_coding	getma.org/?cm=var&var=hg19,17,263697,T,A&fts=all				F/I		A	neutral	1079/1839		getma.org/?cm=msa&ty=f&p=CQ097_HUMAN&rb=1&re=451&var=F385I	tolerated_low_confidence(0.35)				YES	C17orf97,missense_variant,p.Phe355Ile,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	1063/1272	F385I	CQ097_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000353245		CCDS32519.2			1	
ZRSR1	0	LGGM	GRCh37	5	112228537	112228537	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	32	3	.	.	ENST00000391338.1:c.1201G>T	p.Glu401Ter	p.E401*	ENST00000391338	NM_001204199.1	401	Gag/Tag	0	1	1	UPI0000137928	0		ENST00000391338		ENSG00000212643	12456		35			HGNC	p.E401X		ZRSR1		SNV							ENST00000391338	protein_coding			hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF9,Low_complexity_(Seg):seg		E/*		T		1225/1479							YES	ZRSR1,stop_gained,p.Glu401Ter,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,;							HIGH	1201/1440		U2AFL_HUMAN			Transcript			.	ENSP00000375133					1	
PTCHD2	0	LGGM	GRCh37	1	11595606	11595606	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	21	3	.	.	ENST00000294484.6:c.3721C>A	p.Leu1241Met	p.L1241M	ENST00000294484	NM_020780.1	1241	Ctg/Atg	0	1	1	UPI00001C1D7A	0	NA	ENST00000294484		ENSG00000204624	29251		24	2.34		HGNC	p.L1241M		PTCHD2		SNV							ENST00000294484	protein_coding	getma.org/?cm=var&var=hg19,1,11595606,C,A&fts=all		Gene3D:2j8sB01,Pfam_domain:PF03176,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF49,Superfamily_domains:SSF82866		L/M		A	medium	3859/5215		getma.org/?cm=msa&ty=f&p=PTHD2_HUMAN&rb=1170&re=1359&var=L1241M	deleterious(0)				YES	PTCHD2,missense_variant,p.Leu1241Met,ENST00000294484,NM_020780.1;PTCHD2,missense_variant,p.Leu1241Met,ENST00000389575,;PTCHD2,missense_variant,p.Pro127His,ENST00000304391,;							MODERATE	3721/4179	L1241M	PTHD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000294484		CCDS41247.1			1	
PPP1R12B	0	LGGM	GRCh37	1	202418231	202418231	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	31	3	.	.	ENST00000608999.1:c.1782G>C	p.Gly594=	p.G594=	ENST00000608999	NM_002481.3	594	ggG/ggC	0	1	1	UPI0000458A57	0		ENST00000608999		ENSG00000077157	7619		34			HGNC	p.G594G		PPP1R12B		SNV							ENST00000336894	protein_coding			PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18		G		C		1935/15248							YES	PPP1R12B,synonymous_variant,p.=,ENST00000608999,NM_002481.3,NM_001197131.1;PPP1R12B,synonymous_variant,p.=,ENST00000336894,;PPP1R12B,non_coding_transcript_exon_variant,,ENST00000498070,;PPP1R12B,downstream_gene_variant,,ENST00000434615,;							LOW	1782/2949					Transcript			.	ENSP00000476755		CCDS1426.1			1	
PDZRN4	0	LGGM	GRCh37	12	41946541	41946541	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	38	3	.	.	ENST00000402685.2:c.1287C>A	p.Gly429=	p.G429=	ENST00000402685	NM_001164595.1	429	ggC/ggA	0	1	1	UPI0000D621D0	0		ENST00000402685		ENSG00000165966	30552		41			HGNC	p.G171G		PDZRN4		SNV							ENST00000539469	protein_coding			Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545,PROSITE_profiles:PS50106		G		A		1295/3347				B3KT02_HUMAN			YES	PDZRN4,synonymous_variant,p.=,ENST00000298919,;PDZRN4,synonymous_variant,p.=,ENST00000402685,NM_001164595.1;PDZRN4,synonymous_variant,p.=,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							LOW	1287/3111		PZRN4_HUMAN			Transcript			.	ENSP00000384197		CCDS53777.1			1	
MXRA5	0	LGGM	GRCh37	X	3228928	3228928	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	8	3	.	.	ENST00000217939.6:c.7316C>A	p.Pro2439Gln	p.P2439Q	ENST00000217939	NM_015419.3	2439	cCa/cAa	0	1	1	UPI000013C73B	0	getma.org/pdb.php?prot=MXRA5_HUMAN&from=2436&to=2446&var=P2439Q	ENST00000217939		ENSG00000101825	7539		11	2.585		HGNC	p.P2439Q		MXRA5		SNV							ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3228928,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		P/Q		T	medium	7471/9793		getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=2406&re=2476&var=P2439Q	deleterious(0.04)				YES	MXRA5,missense_variant,p.Pro2439Gln,ENST00000217939,NM_015419.3;							MODERATE	7316/8487	P2439Q	MXRA5_HUMAN			Transcript		benign(0.434)	.	ENSP00000217939		CCDS14124.1			1	
PTH1R	0	LGGM	GRCh37	3	46944790	46944790	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	12	3	.	.	ENST00000313049.5:c.1426C>A	p.Arg476Ser	p.R476S	ENST00000313049		476	Cgc/Agc	0	1	1	UPI000005041F	0	NA	ENST00000313049		ENSG00000160801	9608		15	1.13		HGNC	p.R476S		PTH1R		SNV			1				ENST00000418619	protein_coding	getma.org/?cm=var&var=hg19,3,46944790,C,A&fts=all		hmmpanther:PTHR12011:SF24,hmmpanther:PTHR12011,Superfamily_domains:SSF81321		R/S		A	low	1629/2123		getma.org/?cm=msa&ty=f&p=PTH1R_HUMAN&rb=456&re=593&var=R476S	deleterious(0)	Q71UK6_HUMAN,E7EWE7_HUMAN			YES	PTH1R,missense_variant,p.Arg476Ser,ENST00000449590,NM_000316.2;PTH1R,missense_variant,p.Arg476Ser,ENST00000313049,;PTH1R,missense_variant,p.Arg476Ser,ENST00000418619,;PTH1R,missense_variant,p.Arg476Ser,ENST00000430002,NM_001184744.1;PTH1R,missense_variant,p.Arg476Ser,ENST00000427125,;PTH1R,missense_variant,p.Arg65Ser,ENST00000422115,;PTH1R,downstream_gene_variant,,ENST00000490109,;PTH1R,3_prime_UTR_variant,,ENST00000428220,;							MODERATE	1426/1782	R476S	PTH1R_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321999		CCDS2747.1			1	
BLTP1	0	LGGM	GRCh37	4	123160826	123160826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	41	3	.	.	ENST00000264501.4:c.3989G>T	p.Gly1330Val	p.G1330V	ENST00000264501		1330	gGg/gTg	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		44	0		HGNC	p.G1330V		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123160826,G,T&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		G/V		T	neutral	4362/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1302&re=1488&var=G1330V		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Gly1330Val,ENST00000264501,;KIAA1109,missense_variant,p.Gly1330Val,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Gly1330Val,ENST00000455637,;KIAA1109,missense_variant,p.Gly1162Val,ENST00000424425,;KIAA1109,upstream_gene_variant,,ENST00000446180,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;							MODERATE	3989/15018	G1330V	K1109_HUMAN			Transcript		benign(0.01)	.	ENSP00000264501		CCDS43267.1			1	
PRC1	0	LGGM	GRCh37	15	91525020	91525020	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	33	3	.	.	ENST00000394249.3:c.459G>T	p.Leu153=	p.L153=	ENST00000394249	NM_003981.3	153	ctG/ctT	0	1	1	UPI00001A5ED8	0		ENST00000394249		ENSG00000198901	9341		36			HGNC	p.L153L		PRC1		SNV							ENST00000394249	protein_coding			Pfam_domain:PF03999,hmmpanther:PTHR19321:SF1,hmmpanther:PTHR19321		L		A		537/3032							YES	PRC1,synonymous_variant,p.=,ENST00000361188,;PRC1,synonymous_variant,p.=,ENST00000394249,NM_003981.3;PRC1,synonymous_variant,p.=,ENST00000361919,NM_199413.2;PRC1,synonymous_variant,p.=,ENST00000442656,NM_001267580.1;PRC1,synonymous_variant,p.=,ENST00000557905,;PRC1,upstream_gene_variant,,ENST00000559828,;PRC1,downstream_gene_variant,,ENST00000559811,;PRC1-AS1,intron_variant,,ENST00000554388,;Y_RNA,upstream_gene_variant,,ENST00000363272,;PRC1,downstream_gene_variant,,ENST00000556129,;PRC1,downstream_gene_variant,,ENST00000555745,;PRC1,non_coding_transcript_exon_variant,,ENST00000417173,;PRC1,non_coding_transcript_exon_variant,,ENST00000557763,;PRC1,non_coding_transcript_exon_variant,,ENST00000553494,;PRC1,non_coding_transcript_exon_variant,,ENST00000560605,;PRC1,upstream_gene_variant,,ENST00000560914,;PRC1,downstream_gene_variant,,ENST00000555791,;PRC1,upstream_gene_variant,,ENST00000556982,;							LOW	459/1863		PRC1_HUMAN			Transcript			.	ENSP00000377793		CCDS32334.1			1	
GSTO1	0	LGGM	GRCh37	10	106019525	106019525	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	30	3	.	.	ENST00000369713.5:c.335G>T	p.Cys112Phe	p.C112F	ENST00000369713	NM_004832.2	112	tGc/tTc	0	1	1	UPI00000465CE	0	getma.org/pdb.php?prot=GSTO1_HUMAN&from=107&to=210&var=C112F	ENST00000369713		ENSG00000148834	13312		33	0.6		HGNC	p.C84F		GSTO1		SNV							ENST00000445155	protein_coding	getma.org/?cm=var&var=hg19,10,106019525,G,T&fts=all		PROSITE_profiles:PS50405,hmmpanther:PTHR11260:SF132,hmmpanther:PTHR11260,Gene3D:3.40.30.10,Superfamily_domains:SSF47616,Superfamily_domains:SSF52833		C/F		T	neutral	529/972		getma.org/?cm=msa&ty=f&p=GSTO1_HUMAN&rb=107&re=210&var=C112F	tolerated(0.71)	Q5TA02_HUMAN			YES	GSTO1,missense_variant,p.Cys84Phe,ENST00000539281,NM_001191003.1;GSTO1,missense_variant,p.Cys112Phe,ENST00000369713,NM_004832.2;GSTO1,missense_variant,p.Cys112Phe,ENST00000369710,NM_001191002.1;GSTO1,missense_variant,p.Cys84Phe,ENST00000445155,;GSTO1,missense_variant,p.Cys84Phe,ENST00000432659,;GSTO1,non_coding_transcript_exon_variant,,ENST00000493946,;GSTO1,non_coding_transcript_exon_variant,,ENST00000470554,;							MODERATE	335/726	C112F	GSTO1_HUMAN			Transcript		benign(0.011)	.	ENSP00000358727		CCDS7555.1			1	
KIAA0319L	0	LGGM	GRCh37	1	35900589	35900589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	33	3	.	.	ENST00000325722.3:c.3056G>T	p.Arg1019Leu	p.R1019L	ENST00000325722	NM_024874.4	1019	cGa/cTa	0	1	1	UPI000003F081	0	NA	ENST00000325722		ENSG00000142687	30071		36	1.5		HGNC	p.R1019L	rs767449634	KIAA0319L	0.000182	SNV			1				ENST00000325722	protein_coding	getma.org/?cm=var&var=hg19,1,35900589,C,A&fts=all		hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083		R/L		A	low	3291/4789		getma.org/?cm=msa&ty=f&p=K319L_HUMAN&rb=1004&re=1049&var=R1019L	tolerated(0.06)	E7EN73_HUMAN,C9JVB2_HUMAN,C9JQ56_HUMAN,C9J519_HUMAN,B1AN15_HUMAN			YES	KIAA0319L,missense_variant,p.Arg1019Leu,ENST00000325722,NM_024874.4;KIAA0319L,missense_variant,p.Arg1019Leu,ENST00000426982,;KIAA0319L,missense_variant,p.Arg456Leu,ENST00000373266,;KIAA0319L,downstream_gene_variant,,ENST00000485551,;KIAA0319L,downstream_gene_variant,,ENST00000461312,;							MODERATE	3056/3150	R1019L	K319L_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000318406	2.47E-05	CCDS390.1			1	
C10orf85	0	LGGM	GRCh37	10	122358003	122358003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	1	4	.	.	ENST00000369071.2:c.181G>A	p.Asp61Asn	p.D61N	ENST00000369071		61	Gac/Aac	0	1	1	UPI000006E382	0		ENST00000369071		ENSG00000177234	31365		5			HGNC	p.D61N		C10orf85		SNV							ENST00000369071	protein_coding					D/N		A		283/1909			deleterious_low_confidence(0)				YES	C10orf85,missense_variant,p.Asp61Asn,ENST00000369071,;							MODERATE	181/387		CJ085_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000358067					1	
ABHD17B	0	LGGM	GRCh37	9	74489829	74489829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	53	4	.	.	ENST00000377041.2:c.168G>T	p.Trp56Cys	p.W56C	ENST00000377041	NM_016014.2	56	tgG/tgT	0	1		UPI0000210B1D	0	NA	ENST00000333421		ENSG00000107362	24278		57	2.525		HGNC	p.W56C		ABHD17B		SNV							ENST00000377041	protein_coding	getma.org/?cm=var&var=hg19,9,74489829,C,A&fts=all		hmmpanther:PTHR12277:SF48,hmmpanther:PTHR12277,Superfamily_domains:SSF53474		W/C		A	medium	280/2614		getma.org/?cm=msa&ty=f&p=F108B_HUMAN&rb=1&re=92&var=W56C	tolerated(0.06)					ABHD17B,missense_variant,p.Trp56Cys,ENST00000333421,NM_001025780.1;ABHD17B,missense_variant,p.Trp56Cys,ENST00000377041,NM_016014.2;							MODERATE	168/867	W56C	AB17B_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000330222		CCDS35043.1			1	
NAA25	0	LGGM	GRCh37	12	112525487	112525487	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	84	4	.	.	ENST00000261745.4:c.402G>T	p.Gln134His	p.Q134H	ENST00000261745	NM_024953.3	134	caG/caT	0	1	1	UPI00001FBB50	0	NA	ENST00000261745		ENSG00000111300	25783		88	1.54		HGNC	p.Q134H		NAA25		SNV							ENST00000261745	protein_coding	getma.org/?cm=var&var=hg19,12,112525487,C,A&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF3,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		Q/H		A	low	651/6003		getma.org/?cm=msa&ty=f&p=NAA25_HUMAN&rb=1&re=200&var=Q134H	deleterious(0.04)				YES	NAA25,missense_variant,p.Gln134His,ENST00000261745,NM_024953.3;NAA25,missense_variant,p.Gln96His,ENST00000547133,;NAA25,splice_region_variant,,ENST00000552527,;NAA25,splice_region_variant,,ENST00000551858,;NAA25,intron_variant,,ENST00000549711,;NAA25,downstream_gene_variant,,ENST00000548627,;							MODERATE	402/2919	Q134H	NAA25_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000261745		CCDS9159.1			1	
IL18RAP	0	LGGM	GRCh37	2	103053729	103053729	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	32	4	.	.	ENST00000264260.2:c.637G>T	p.Asp213Tyr	p.D213Y	ENST00000264260	NM_003853.2	213	Gac/Tac	0	1	1	UPI0000071CAF	0	NA	ENST00000264260		ENSG00000115607	5989		36	0.49		HGNC	p.D213Y		IL18RAP		SNV							ENST00000264260	protein_coding	getma.org/?cm=var&var=hg19,2,103053729,G,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4,PROSITE_profiles:PS50835		D/Y		T	neutral	1226/2773		getma.org/?cm=msa&ty=f&p=I18RA_HUMAN&rb=159&re=240&var=D213Y	tolerated(0.17)	Q3KPE8_HUMAN,C9JLE2_HUMAN			YES	IL18RAP,missense_variant,p.Asp213Tyr,ENST00000264260,NM_003853.2;IL18RAP,missense_variant,p.Asp71Tyr,ENST00000409369,;MIR4772,downstream_gene_variant,,ENST00000581495,;AC007278.3,upstream_gene_variant,,ENST00000450893,;AC007278.2,downstream_gene_variant,,ENST00000436582,;							MODERATE	637/1800	D213Y	I18RA_HUMAN			Transcript		benign(0.018)	.	ENSP00000264260		CCDS2061.1			1	
CCDC30	0	LGGM	GRCh37	1	43021892	43021892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	79	4	.	.	ENST00000428554.2:c.491C>A	p.Pro164Gln	p.P164Q	ENST00000428554		164	cCa/cAa	0	1		UPI0000458A0B	0	NA	ENST00000340612		ENSG00000186409	26103		83	1.5		HGNC	p.P164Q		CCDC30		SNV							ENST00000342022	protein_coding	getma.org/?cm=var&var=hg19,1,43021892,C,A&fts=all				P/Q		A	low	491/2664		getma.org/?cm=msa&ty=f&p=CCD30_HUMAN&rb=1&re=309&var=P164Q	tolerated(0.15)	D6RFH8_HUMAN				CCDC30,missense_variant,p.Pro164Gln,ENST00000428554,;CCDC30,missense_variant,p.Pro164Gln,ENST00000342022,NM_001080850.2;CCDC30,missense_variant,p.Pro164Gln,ENST00000340612,;CCDC30,intron_variant,,ENST00000507855,;CCDC30,intron_variant,,ENST00000390640,;CCDC30,missense_variant,p.Pro118Gln,ENST00000509712,;CCDC30,5_prime_UTR_variant,,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;CCDC30,intron_variant,,ENST00000514642,;							MODERATE	491/2352	P164Q	CCD30_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000340378		CCDS30690.1			1	
YARS2	0	LGGM	GRCh37	12	32902892	32902892	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	65	4	.	.	ENST00000324868.8:c.1253C>T	p.Ala418Val	p.A418V	ENST00000324868	NM_001040436.2	418	gCc/gTc	0	1	1	UPI0000046058	0	NA	ENST00000324868		ENSG00000139131	24249		69	1.935		HGNC	p.A418V		YARS2		SNV			1				ENST00000324868	protein_coding	getma.org/?cm=var&var=hg19,12,32902892,G,A&fts=all		hmmpanther:PTHR11766:SF0,hmmpanther:PTHR11766,Gene3D:3.10.290.10,TIGRFAM_domain:TIGR00234,Superfamily_domains:SSF55174		A/V		A	medium	1281/2122		getma.org/?cm=msa&ty=f&p=SYYM_HUMAN&rb=376&re=477&var=A418V	tolerated(0.22)				YES	YARS2,missense_variant,p.Ala418Val,ENST00000324868,NM_001040436.2;DNM1L,downstream_gene_variant,,ENST00000452533,NM_012062.4,NM_012063.3;DNM1L,downstream_gene_variant,,ENST00000381000,NM_001278465.1;YARS2,non_coding_transcript_exon_variant,,ENST00000551673,;YARS2,3_prime_UTR_variant,,ENST00000548490,;							MODERATE	1253/1434	A418V	SYYM_HUMAN			Transcript		benign(0.021)	.	ENSP00000320658		CCDS31770.1			1	
SLC35F2	0	LGGM	GRCh37	11	107673786	107673786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	38	4	.	.	ENST00000525815.1:c.880G>T	p.Gly294Cys	p.G294C	ENST00000525815	NM_017515.4	294	Ggc/Tgc	0	1	1	UPI0000074335	0	NA	ENST00000525815		ENSG00000110660	23615		42	1.67		HGNC	p.G247C		SLC35F2		SNV							ENST00000375682	protein_coding	getma.org/?cm=var&var=hg19,11,107673786,C,A&fts=all		Pfam_domain:PF06027,hmmpanther:PTHR14233,hmmpanther:PTHR14233:SF12,Transmembrane_helices:TMhelix		G/C		A	low	1301/3170		getma.org/?cm=msa&ty=f&p=S35F2_HUMAN&rb=28&re=364&var=G294C	deleterious(0.01)	E9PKZ2_HUMAN,B4DUB9_HUMAN			YES	SLC35F2,missense_variant,p.Gly294Cys,ENST00000525071,;SLC35F2,missense_variant,p.Gly294Cys,ENST00000525815,NM_017515.4;SLC35F2,missense_variant,p.Gly294Cys,ENST00000429869,;SLC35F2,missense_variant,p.Gly247Cys,ENST00000375682,;SLC35F2,missense_variant,p.Gly146Cys,ENST00000265836,;SLC35F2,3_prime_UTR_variant,,ENST00000532513,;SLC35F2,3_prime_UTR_variant,,ENST00000533664,;SLC35F2,downstream_gene_variant,,ENST00000524991,;							MODERATE	880/1125	G294C	S35F2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000436785		CCDS41709.1			1	
YJU2B	0	LGGM	GRCh37	19	13873810	13873810	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	1	4	.	.	ENST00000586600.1:c.1119C>A	p.Thr373=	p.T373=	ENST00000586600		373	acC/acA	0	1		UPI0000071AFB	0		ENST00000221554		ENSG00000104957	28118		5			HGNC	p.T373T		CCDC130		SNV							ENST00000221554	protein_coding			hmmpanther:PTHR12111:SF2,hmmpanther:PTHR12111,Pfam_domain:PF04502		T		A		1496/1792				K7EPA5_HUMAN,K7ELI4_HUMAN				CCDC130,synonymous_variant,p.=,ENST00000586600,;CCDC130,synonymous_variant,p.=,ENST00000221554,NM_030818.2;CCDC130,3_prime_UTR_variant,,ENST00000585844,;MRI1,upstream_gene_variant,,ENST00000319545,NM_032285.2;MRI1,upstream_gene_variant,,ENST00000040663,NM_001031727.2;CCDC130,downstream_gene_variant,,ENST00000586666,;MRI1,upstream_gene_variant,,ENST00000593245,;CCDC130,downstream_gene_variant,,ENST00000589096,;CCDC130,downstream_gene_variant,,ENST00000589669,;CCDC130,downstream_gene_variant,,ENST00000588809,;CCDC130,downstream_gene_variant,,ENST00000587019,;CCDC130,non_coding_transcript_exon_variant,,ENST00000593174,;CCDC130,downstream_gene_variant,,ENST00000588071,;CCDC130,downstream_gene_variant,,ENST00000540216,;MRI1,upstream_gene_variant,,ENST00000591688,;MRI1,upstream_gene_variant,,ENST00000588526,;MRI1,upstream_gene_variant,,ENST00000589290,;							LOW	1119/1191		CC130_HUMAN			Transcript			.	ENSP00000221554		CCDS12296.1			1	
GPN1	0	LGGM	GRCh37	2	27857779	27857779	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	41	4	.	.	ENST00000264718.3:c.459C>A	p.Ile153=	p.I153=	ENST00000264718		153	atC/atA	0	1		UPI000006E7AC	0		ENST00000610189		ENSG00000198522	17030		45			HGNC	p.I60I	COSM574667,COSM574666	GPN1		SNV						1,1	ENST00000424214	protein_coding			hmmpanther:PTHR21231,hmmpanther:PTHR21231:SF7,Gene3D:3.40.50.300,Pfam_domain:PF03029,SMART_domains:SM00382,Superfamily_domains:SSF52540		I		A		424/1778				Q53RZ9_HUMAN				GPN1,synonymous_variant,p.=,ENST00000264718,;GPN1,synonymous_variant,p.=,ENST00000610189,NM_007266.3;GPN1,synonymous_variant,p.=,ENST00000424214,NM_001145048.1;GPN1,synonymous_variant,p.=,ENST00000515877,;GPN1,synonymous_variant,p.=,ENST00000458167,NM_001145049.1;GPN1,synonymous_variant,p.=,ENST00000407583,NM_001145047.1;GPN1,synonymous_variant,p.=,ENST00000503738,;ZNF512,3_prime_UTR_variant,,ENST00000556601,;RP11-158I13.2,non_coding_transcript_exon_variant,,ENST00000505973,;GPN1,non_coding_transcript_exon_variant,,ENST00000461249,;GPN1,downstream_gene_variant,,ENST00000481754,;GPN1,3_prime_UTR_variant,,ENST00000436280,;GPN1,downstream_gene_variant,,ENST00000478484,;					1,1		LOW	417/1125					Transcript			.	ENSP00000476446					1	
PPP1R13B	0	LGGM	GRCh37	14	104212851	104212851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	7	5	.	.	ENST00000202556.9:c.1009C>A	p.Leu337Met	p.L337M	ENST00000202556	NM_015316.2	337	Ctg/Atg	0	1	1	UPI000049DDC7	0	NA	ENST00000202556		ENSG00000088808	14950		12	1.15		HGNC	p.L337M		PPP1R13B		SNV							ENST00000202556	protein_coding	getma.org/?cm=var&var=hg19,14,104212851,G,T&fts=all		hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5		L/M		T	low	1292/4958		getma.org/?cm=msa&ty=f&p=ASPP1_HUMAN&rb=201&re=400&var=L337M	tolerated(0.24)	G3V5J1_HUMAN			YES	PPP1R13B,missense_variant,p.Leu337Met,ENST00000202556,NM_015316.2;PPP1R13B,upstream_gene_variant,,ENST00000423488,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555991,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555183,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,upstream_gene_variant,,ENST00000555391,;PPP1R13B,downstream_gene_variant,,ENST00000555708,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,upstream_gene_variant,,ENST00000556597,;PPP1R13B,upstream_gene_variant,,ENST00000557744,;							MODERATE	1009/3273	L337M	ASPP1_HUMAN			Transcript		benign(0.111)	.	ENSP00000202556		CCDS41997.1			1	
FCRL2	0	LGGM	GRCh37	1	157738258	157738258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	55	5	.	.	ENST00000361516.3:c.829G>T	p.Ala277Ser	p.A277S	ENST00000361516	NM_030764.3	277	Gct/Tct	0	1	1	UPI000006E1F3	0	getma.org/pdb.php?prot=FCRL2_HUMAN&from=206&to=293&var=A277S	ENST00000361516		ENSG00000132704	14875		60	3.42		HGNC	p.A277S		FCRL2		SNV							ENST00000392274	protein_coding	getma.org/?cm=var&var=hg19,1,157738258,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF41,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/S		A	medium	878/2579		getma.org/?cm=msa&ty=f&p=FCRL2_HUMAN&rb=206&re=293&var=A277S	deleterious(0.04)				YES	FCRL2,missense_variant,p.Ala277Ser,ENST00000361516,NM_030764.3;FCRL2,missense_variant,p.Ala277Ser,ENST00000392274,;FCRL2,intron_variant,,ENST00000368181,;FCRL2,upstream_gene_variant,,ENST00000469986,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;FCRL2,downstream_gene_variant,,ENST00000462774,;							MODERATE	829/1527	A277S	FCRL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355157		CCDS1168.1			1	
ETNPPL	0	LGGM	GRCh37	4	109667590	109667590	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	7	5	.	.	ENST00000296486.3:c.1268A>G	p.Lys423Arg	p.K423R	ENST00000296486	NM_031279.3	423	aAg/aGg	0	1	1	UPI000004B638	0	getma.org/pdb.php?prot=AT2L1_HUMAN&from=374&to=499&var=K423R	ENST00000296486		ENSG00000164089	14404		12	1.125		HGNC	p.K365R		ETNPPL		SNV							ENST00000512646	protein_coding	getma.org/?cm=var&var=hg19,4,109667590,T,C&fts=all		Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000521,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF63,Superfamily_domains:SSF53383		K/R		C	low	1423/2099		getma.org/?cm=msa&ty=f&p=AT2L1_HUMAN&rb=374&re=499&var=K423R	tolerated(0.14)	E7ENR6_HUMAN,D6RGG2_HUMAN			YES	ETNPPL,missense_variant,p.Lys423Arg,ENST00000296486,NM_031279.3,NM_001146590.1;ETNPPL,missense_variant,p.Lys417Arg,ENST00000411864,;ETNPPL,missense_variant,p.Lys383Arg,ENST00000510706,;ETNPPL,missense_variant,p.Lys365Arg,ENST00000512646,NM_001146627.1;ETNPPL,downstream_gene_variant,,ENST00000505233,;ETNPPL,downstream_gene_variant,,ENST00000503912,;							MODERATE	1268/1500	K423R	AT2L1_HUMAN			Transcript		benign(0.002)	.	ENSP00000296486		CCDS3682.1			1	
RTL1	0	LGGM	GRCh37	14	101347871	101347871	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	16	5	.	.	ENST00000534062.1:c.3255C>G	p.Tyr1085Ter	p.Y1085*	ENST00000534062	NM_001134888.2	1085	taC/taG	0	1	1	UPI00001D7B9E	0	NA	ENST00000534062		ENSG00000254656	14665		21	0		HGNC	p.Y1085X		RTL1		SNV			1				ENST00000534062	protein_coding	getma.org/?cm=var&var=hg19,14,101347871,G,C&fts=all				Y/*		C	NA	3314/4193		NA					YES	RTL1,stop_gained,p.Tyr1085Ter,ENST00000534062,NM_001134888.2;MIR433,upstream_gene_variant,,ENST00000384837,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR136,upstream_gene_variant,,ENST00000385207,;							HIGH	3255/4077	Y1086*	RTL1_HUMAN			Transcript			.	ENSP00000435342		CCDS53910.1			1	
CPA5	0	LGGM	GRCh37	7	130002834	130002834	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	12	5	.	.	ENST00000485477.1:c.746T>A	p.Met249Lys	p.M249K	ENST00000485477		249	aTg/aAg	0	1		UPI000000D837	0	getma.org/pdb.php?prot=CBPA5_HUMAN&from=145&to=423&var=M249K	ENST00000393213		ENSG00000158525	15722		17	-0.84		HGNC	p.M249K	rs781836533	CPA5	6.43E-05	SNV							ENST00000485477	protein_coding	getma.org/?cm=var&var=hg19,7,130002834,T,A&fts=all		Superfamily_domains:SSF53187,SMART_domains:SM00631,Pfam_domain:PF00246,Gene3D:3.40.630.10,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF16		M/K		A	neutral	746/1444		getma.org/?cm=msa&ty=f&p=CBPA5_HUMAN&rb=145&re=423&var=M249K	tolerated(1)	A4D1M2_HUMAN,C9JZE9_HUMAN,C9JRV5_HUMAN				CPA5,missense_variant,p.Met249Lys,ENST00000485477,;CPA5,missense_variant,p.Met249Lys,ENST00000466363,;CPA5,missense_variant,p.Met249Lys,ENST00000355388,NM_001127441.1;CPA5,missense_variant,p.Met249Lys,ENST00000474905,NM_080385.4;CPA5,missense_variant,p.Met249Lys,ENST00000431780,NM_001127442.1;CPA5,missense_variant,p.Met249Lys,ENST00000461828,;CPA5,missense_variant,p.Met249Lys,ENST00000393213,;CPA5,downstream_gene_variant,,ENST00000463587,;CPA5,upstream_gene_variant,,ENST00000479492,;CPA5,splice_region_variant,,ENST00000495736,;							MODERATE	746/1311	M249K	CBPA5_HUMAN			Transcript		possibly_damaging(0.542)	.	ENSP00000376907	8.24E-06	CCDS5819.1			1	
SLC39A11	0	LGGM	GRCh37	17	71027764	71027764	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	42	5	.	.	ENST00000542342.2:c.237C>T	p.Phe79=	p.F79=	ENST00000542342	NM_001159770.1	79	ttC/ttT	0	1	1	UPI000020017B	0		ENST00000542342		ENSG00000133195	14463		47			HGNC	p.F79F	rs372107398	SLC39A11		SNV	C:0			9.64E-05			ENST00000579732	protein_coding			Pfam_domain:PF02535,hmmpanther:PTHR11065,hmmpanther:PTHR11065:SF13,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		F	C:0.0001	A		326/2752				J3QLA9_HUMAN,J3KT59_HUMAN,J3KRI1_HUMAN			YES	SLC39A11,synonymous_variant,p.=,ENST00000542342,NM_001159770.1;SLC39A11,synonymous_variant,p.=,ENST00000255559,NM_139177.3;SLC39A11,synonymous_variant,p.=,ENST00000579732,;SLC39A11,synonymous_variant,p.=,ENST00000580557,;SLC39A11,synonymous_variant,p.=,ENST00000583146,;SLC39A11,non_coding_transcript_exon_variant,,ENST00000582179,;	0.000116						LOW	237/1029		S39AB_HUMAN			Transcript			.	ENSP00000445829	1.65E-05	CCDS54160.1			1	
KIF3C	0	LGGM	GRCh37	2	26151911	26151911	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	9	5	.	.	ENST00000264712.3:c.2318C>A	p.Ser773Tyr	p.S773Y	ENST00000264712	NM_002254.6	773	tCc/tAc	0	1	1	UPI000013D55A	0	NA	ENST00000264712		ENSG00000084731	6321		14	1.1		HGNC	p.S773Y		KIF3C		SNV							ENST00000405914	protein_coding	getma.org/?cm=var&var=hg19,2,26151911,G,T&fts=all				S/Y		T	low	2898/5338		getma.org/?cm=msa&ty=f&p=KIF3C_HUMAN&rb=622&re=793&var=S773Y					YES	KIF3C,missense_variant,p.Ser773Tyr,ENST00000264712,NM_002254.6;KIF3C,missense_variant,p.Ser773Tyr,ENST00000405914,;KIF3C,downstream_gene_variant,,ENST00000496378,;KIF3C,3_prime_UTR_variant,,ENST00000455394,;KIF3C,3_prime_UTR_variant,,ENST00000417737,;							MODERATE	2318/2382	S773Y	KIF3C_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000264712		CCDS1719.1			1	
TBC1D5	0	LGGM	GRCh37	3	17279656	17279656	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	11	6	.	.	ENST00000446818.2:c.1587A>G	p.Lys529=	p.K529=	ENST00000446818	NM_001134381.1	529	aaA/aaG	0	1		UPI0000136A45	0		ENST00000253692		ENSG00000131374	19166		17			HGNC	p.K529K		TBC1D5		SNV							ENST00000429383	protein_coding			hmmpanther:PTHR22957:SF220,hmmpanther:PTHR22957		K		C		3252/7854				F2Z3C3_HUMAN,C9K0P2_HUMAN,C9JWX0_HUMAN,C9JW04_HUMAN,C9JNM0_HUMAN,C9JMP7_HUMAN,C9JIU4_HUMAN,C9JED7_HUMAN,C9JDR8_HUMAN,C9J397_HUMAN,B9A6K1_HUMAN				TBC1D5,splice_region_variant,p.=,ENST00000253692,NM_014744.2;TBC1D5,splice_region_variant,p.=,ENST00000429383,NM_001134380.1;TBC1D5,splice_region_variant,p.=,ENST00000446818,NM_001134381.1;TBC1D5,splice_region_variant,p.=,ENST00000429924,;TBC1D5,splice_region_variant,,ENST00000414318,;							LOW	1587/2388		TBCD5_HUMAN			Transcript			.	ENSP00000253692		CCDS33714.1			1	
DNAH7	0	LGGM	GRCh37	2	196661337	196661337	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	36	6	.	.	ENST00000312428.6:c.10478C>A	p.Ala3493Asp	p.A3493D	ENST00000312428	NM_018897.2	3493	gCc/gAc	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=3312&to=4021&var=A3493D	ENST00000312428		ENSG00000118997	18661		42	4.38		HGNC	p.A3493D		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196661337,G,T&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028		A/D		T	high	10579/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=3312&re=4021&var=A3493D	deleterious(0)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Ala3493Asp,ENST00000312428,NM_018897.2;DNAH7,upstream_gene_variant,,ENST00000409063,;							MODERATE	10478/12075	A3493D	DYH7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000311273		CCDS42794.1			1	
PPM1B	0	LGGM	GRCh37	2	44428777	44428777	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	74	6	.	.	ENST00000282412.4:c.439A>G	p.Ile147Val	p.I147V	ENST00000282412	NM_002706.4	147	Atc/Gtc	0	1	1	UPI0000130FE7	0	getma.org/pdb.php?prot=PPM1B_HUMAN&from=22&to=288&var=I147V	ENST00000282412		ENSG00000138032	9276		80	1.15		HGNC	p.I147V		PPM1B		SNV			1				ENST00000419807	protein_coding	getma.org/?cm=var&var=hg19,2,44428777,A,G&fts=all		hmmpanther:PTHR13832:SF244,hmmpanther:PTHR13832,Pfam_domain:PF00481,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606		I/V		G	low	851/2606		getma.org/?cm=msa&ty=f&p=PPM1B_HUMAN&rb=22&re=288&var=I147V	tolerated(0.26)	C9JIR6_HUMAN			YES	PPM1B,missense_variant,p.Ile147Val,ENST00000378551,NM_177968.2;PPM1B,missense_variant,p.Ile147Val,ENST00000409432,NM_001033557.1;PPM1B,missense_variant,p.Ile147Val,ENST00000282412,NM_002706.4;PPM1B,missense_variant,p.Ile147Val,ENST00000419807,;PPM1B,missense_variant,p.Ile147Val,ENST00000409895,NM_001033556.1;PPM1B,missense_variant,p.Ile147Val,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,;							MODERATE	439/1440	I147V	PPM1B_HUMAN			Transcript		benign(0.077)	.	ENSP00000282412		CCDS1817.1			1	
YJU2B	0	LGGM	GRCh37	19	13873469	13873469	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	5	6	.	.	ENST00000586600.1:c.778C>T	p.Pro260Ser	p.P260S	ENST00000586600		260	Ccc/Tcc	0	1		UPI0000071AFB	0	NA	ENST00000221554		ENSG00000104957	28118		11	0.345		HGNC	p.P211S	rs757395593	CCDC130	0.000103	SNV							ENST00000586666	protein_coding	getma.org/?cm=var&var=hg19,19,13873469,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12111:SF2,hmmpanther:PTHR12111,Pfam_domain:PF04502		P/S		T	neutral	1155/1792		getma.org/?cm=msa&ty=f&p=CC130_HUMAN&rb=1&re=396&var=P260S	tolerated(0.26)	K7EPA5_HUMAN,K7ELI4_HUMAN				CCDC130,missense_variant,p.Pro260Ser,ENST00000586600,;CCDC130,missense_variant,p.Pro260Ser,ENST00000221554,NM_030818.2;CCDC130,missense_variant,p.Pro211Ser,ENST00000586666,;CCDC130,3_prime_UTR_variant,,ENST00000585844,;CCDC130,5_prime_UTR_variant,,ENST00000589669,;MRI1,upstream_gene_variant,,ENST00000319545,NM_032285.2;MRI1,upstream_gene_variant,,ENST00000040663,NM_001031727.2;MRI1,upstream_gene_variant,,ENST00000593245,;CCDC130,downstream_gene_variant,,ENST00000589096,;CCDC130,downstream_gene_variant,,ENST00000588809,;CCDC130,non_coding_transcript_exon_variant,,ENST00000587019,;CCDC130,non_coding_transcript_exon_variant,,ENST00000593174,;CCDC130,downstream_gene_variant,,ENST00000588071,;CCDC130,downstream_gene_variant,,ENST00000540216,;MRI1,upstream_gene_variant,,ENST00000591688,;MRI1,upstream_gene_variant,,ENST00000588526,;MRI1,upstream_gene_variant,,ENST00000589290,;							MODERATE	778/1191	P260S	CC130_HUMAN			Transcript		benign(0.016)	.	ENSP00000221554	8.25E-06	CCDS12296.1			1	
PDE3A	0	LGGM	GRCh37	12	20523018	20523018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	12	7	.	.	ENST00000359062.3:c.800C>A	p.Pro267Gln	p.P267Q	ENST00000359062	NM_001244683.1	267	cCa/cAa	0	1	1	UPI000014175F	0	NA	ENST00000359062		ENSG00000172572	8778		19	1.15		HGNC	p.P267Q		PDE3A		SNV			1				ENST00000359062	protein_coding	getma.org/?cm=var&var=hg19,12,20523018,C,A&fts=all		hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347		P/Q		A	low	840/7576		getma.org/?cm=msa&ty=f&p=PDE3A_HUMAN&rb=174&re=660&var=P267Q	tolerated(0.08)				YES	PDE3A,missense_variant,p.Pro267Gln,ENST00000359062,NM_001244683.1,NM_000921.4;RP11-284H19.1,non_coding_transcript_exon_variant,,ENST00000535755,;PDE3A,upstream_gene_variant,,ENST00000542675,;							MODERATE	800/3426	P267Q	PDE3A_HUMAN			Transcript		possibly_damaging(0.663)	.	ENSP00000351957		CCDS31754.1			1	
C15orf57	0	LGGM	GRCh37	15	40846200	40846200	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	1	7	.	.	ENST00000558750.1:c.555C>T	p.Ala185=	p.A185=	ENST00000558750		185	gcC/gcT	0	1		UPI0000071B61	0		ENST00000358005		ENSG00000128891	28295	8.70E-05	8			HGNC	p.A176A	rs751196938	C15orf57		SNV							ENST00000358005	protein_coding			hmmpanther:PTHR31800,hmmpanther:PTHR31800:SF1		A		A		802/1704				H0YN78_HUMAN,H0YLN5_HUMAN				C15orf57,synonymous_variant,p.=,ENST00000358005,NM_001080791.1,NM_052849.2;C15orf57,synonymous_variant,p.=,ENST00000416810,NM_001080792.1;C15orf57,synonymous_variant,p.=,ENST00000558750,;C15orf57,synonymous_variant,p.=,ENST00000558918,;C15orf57,intron_variant,,ENST00000561011,;C15orf57,intron_variant,,ENST00000559911,;C15orf57,intron_variant,,ENST00000558113,;C15orf57,intron_variant,,ENST00000560305,;C15orf57,downstream_gene_variant,,ENST00000558871,;C15orf57,downstream_gene_variant,,ENST00000559103,;RP11-111A22.1,intron_variant,,ENST00000561460,;RP11-111A22.1,downstream_gene_variant,,ENST00000561039,;C15orf57,synonymous_variant,p.=,ENST00000559291,;C15orf57,synonymous_variant,p.=,ENST00000559153,;							LOW	528/558		CO057_HUMAN			Transcript			.	ENSP00000350695	8.24E-06	CCDS10060.1			1	
KLC1	0	LGGM	GRCh37	14	104145690	104145690	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	32	7	.	.	ENST00000452929.2:c.1489-31G>C		*497*	ENST00000452929	NM_001130107.1			0	1		UPI00002298CD	0		ENST00000348520		ENSG00000126214	6387		39			HGNC	p.G511G		KLC1		SNV							ENST00000380038	protein_coding							C		-/2393				Q7Z5D5_HUMAN,G3V2P7_HUMAN				KLC1,synonymous_variant,p.=,ENST00000380038,;KLC1,synonymous_variant,p.=,ENST00000537046,;KLC1,synonymous_variant,p.=,ENST00000555856,;KLC1,intron_variant,,ENST00000389744,;KLC1,intron_variant,,ENST00000553286,;KLC1,intron_variant,,ENST00000334553,;RP11-73M18.2,intron_variant,,ENST00000472726,;KLC1,intron_variant,,ENST00000555836,;KLC1,intron_variant,,ENST00000452929,NM_001130107.1;KLC1,intron_variant,,ENST00000554280,;KLC1,intron_variant,,ENST00000445352,NM_005552.4;KLC1,intron_variant,,ENST00000348520,NM_182923.3;KLC1,intron_variant,,ENST00000246489,;KLC1,intron_variant,,ENST00000347839,;KLC1,intron_variant,,ENST00000557450,;KLC1,intron_variant,,ENST00000557575,;KLC1,intron_variant,,ENST00000553325,;KLC1,intron_variant,,ENST00000553436,;KLC1,upstream_gene_variant,,ENST00000535194,;RP11-894P9.1,downstream_gene_variant,,ENST00000498989,;KLC1,intron_variant,,ENST00000554228,;							MODIFIER	-/1722		KLC1_HUMAN			Transcript			.	ENSP00000341154		CCDS41996.1			1	
SP3	0	LGGM	GRCh37	2	174820030	174820030	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	5	8	.	.	ENST00000310015.6:c.1210C>T	p.Gln404Ter	p.Q404*	ENST00000310015	NM_001172712.1	404	Cag/Tag	0	1	1	UPI000019B3E0	0	NA	ENST00000310015		ENSG00000172845	11208		13	0		HGNC	p.Q404X		SP3		SNV							ENST00000310015	protein_coding	getma.org/?cm=var&var=hg19,2,174820030,G,A&fts=all		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3		Q/*		A	NA	1741/6359		NA		Q68DP2_HUMAN,H0Y6K5_HUMAN			YES	SP3,stop_gained,p.Gln404Ter,ENST00000310015,NM_001172712.1,NM_003111.4;SP3,stop_gained,p.Gln351Ter,ENST00000455789,;SP3,stop_gained,p.Gln336Ter,ENST00000418194,NM_001017371.4;SP3,stop_gained,p.Gln361Ter,ENST00000416195,;SP3,downstream_gene_variant,,ENST00000483084,;SP3,downstream_gene_variant,,ENST00000462904,;SP3,downstream_gene_variant,,ENST00000490182,;							HIGH	1210/2346	Q404*	SP3_HUMAN			Transcript			.	ENSP00000310301		CCDS2254.1			1	
LINS	0	LGGM	GRCh37	15	101120557	101120557	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	24	8	.	.	ENST00000314742.8:c.400A>T	p.Ile134Phe	p.I134F	ENST00000314742	NM_001040616.2	134	Atc/Ttc	0	1	1	UPI000013D795	0	NA	ENST00000314742		ENSG00000140471	30922		32	1.355		HGNC	p.I134F		LINS		SNV			1				ENST00000559577	protein_coding	getma.org/?cm=var&var=hg19,15,101120557,T,A&fts=all		hmmpanther:PTHR16057:SF1,hmmpanther:PTHR16057		I/F		A	low	623/4821		getma.org/?cm=msa&ty=f&p=LINES_HUMAN&rb=81&re=548&var=I134F	deleterious(0)	H3BNS6_HUMAN,H0YMQ0_HUMAN,H0YMK4_HUMAN,H0YM78_HUMAN,H0YKU3_HUMAN			YES	LINS,missense_variant,p.Ile134Phe,ENST00000314742,NM_001040616.2;LINS,missense_variant,p.Ile134Phe,ENST00000561308,;LINS,missense_variant,p.Ile15Phe,ENST00000560133,;LINS,missense_variant,p.Ile134Phe,ENST00000559736,;LINS,missense_variant,p.Ile134Phe,ENST00000559577,;LINS,missense_variant,p.Ile53Phe,ENST00000560941,;LINS,missense_variant,p.Ile134Phe,ENST00000560934,;LINS,downstream_gene_variant,,ENST00000560272,;LINS,splice_region_variant,,ENST00000559149,;LINS,splice_region_variant,,ENST00000561073,;LINS,downstream_gene_variant,,ENST00000559827,;							MODERATE	400/2274	I134F	LINES_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000318423		CCDS10385.1			1	
OTUB2	0	LGGM	GRCh37	14	94510942	94510942	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	12	8	.	.	ENST00000203664.5:c.314T>A	p.Val105Glu	p.V105E	ENST00000203664	NM_023112.3	105	gTg/gAg	0	1	1	UPI000000D869	0	getma.org/pdb.php?prot=OTUB2_HUMAN&from=1&to=230&var=V105E	ENST00000203664		ENSG00000089723	20351		20	1.295		HGNC	p.V105E		OTUB2		SNV							ENST00000203664	protein_coding	getma.org/?cm=var&var=hg19,14,94510942,T,A&fts=all		Pfam_domain:PF10275,PIRSF_domain:PIRSF013503,PROSITE_profiles:PS50802,hmmpanther:PTHR12931,hmmpanther:PTHR12931:SF3,Superfamily_domains:SSF54001		V/E		A	low	523/3922		getma.org/?cm=msa&ty=f&p=OTUB2_HUMAN&rb=1&re=230&var=V105E	deleterious(0)				YES	OTUB2,missense_variant,p.Val105Glu,ENST00000203664,NM_023112.3;							MODERATE	314/705	V105E	OTUB2_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000203664		CCDS9917.1			1	
DNMT3A	0	LGGM	GRCh37	2	25467421	25467421	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	5	8	.	.	ENST00000264709.3:c.1655A>G	p.Asn552Ser	p.N552S	ENST00000264709	NM_175629.2	552	aAc/aGc	0	1	1	UPI000000DA70	0	getma.org/pdb.php?prot=DNM3A_HUMAN&from=482&to=614&var=N552S	ENST00000264709		ENSG00000119772	2978		13	1.39		HGNC	p.N552S		DNMT3A		SNV			1				ENST00000264709	protein_coding	getma.org/?cm=var&var=hg19,2,25467421,T,C&fts=all		PROSITE_profiles:PS51533,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068		N/S		C	low	1993/4380		getma.org/?cm=msa&ty=f&p=DNM3A_HUMAN&rb=482&re=614&var=N552S	tolerated(0.52)	Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,missense_variant,p.Asn552Ser,ENST00000264709,NM_175629.2;DNMT3A,missense_variant,p.Asn552Ser,ENST00000321117,NM_022552.4;DNMT3A,missense_variant,p.Asn363Ser,ENST00000380746,NM_153759.3;DNMT3A,missense_variant,p.Asn329Ser,ENST00000402667,;DNMT3A,upstream_gene_variant,,ENST00000474887,;DNMT3A,downstream_gene_variant,,ENST00000496570,;DNMT3A,downstream_gene_variant,,ENST00000470983,;DNMT3A,upstream_gene_variant,,ENST00000461228,;DNMT3A,upstream_gene_variant,,ENST00000482935,;DNMT3A,upstream_gene_variant,,ENST00000491288,;DNMT3A,missense_variant,p.Asn552Ser,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000474807,;DNMT3A,upstream_gene_variant,,ENST00000466601,;DNMT3A,downstream_gene_variant,,ENST00000484184,;							MODERATE	1655/2739	N552S	DNM3A_HUMAN			Transcript		benign(0.01)	.	ENSP00000264709		CCDS33157.1			1	
HERC2	0	LGGM	GRCh37	15	28510823	28510823	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	32	8	.	.	ENST00000261609.7:c.1811A>G	p.Lys604Arg	p.K604R	ENST00000261609	NM_004667.5	604	aAg/aGg	0	1	1	UPI00004578F7	0	getma.org/pdb.php?prot=HERC2_HUMAN&from=569&to=613&var=K604R	ENST00000261609		ENSG00000128731	4868		40	-0.21		HGNC	p.K604R		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28510823,T,C&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Superfamily_domains:SSF50985		K/R		C	neutral	1920/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=569&re=613&var=K604R					YES	HERC2,missense_variant,p.Lys604Arg,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;							MODERATE	1811/14505	K604R	HERC2_HUMAN			Transcript		benign(0.396)	.	ENSP00000261609		CCDS10021.1			1	
GMPPB	0	LGGM	GRCh37	3	49759356	49759365	+	frameshift_variant	Frame_Shift_Del	DEL	CTCCCCGCCC	CTCCCCGCCC	-	novel	by Submitter	H080217	H080217N.bam	CTCCCCGCCC	CTCCCCGCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	5	8	.	.	ENST00000308375.6:c.984_993del	p.Arg328SerfsTer20	p.R328Sfs*20	ENST00000308375		328	agGGGCGGGGAG/ag	0	1		UPI000013ED31	0		ENST00000308388		ENSG00000173540	22932		13			HGNC	p.328_331del		GMPPB		deletion			1				ENST00000308375	protein_coding							-		-/1582								GMPPB,frameshift_variant,p.Arg328SerfsTer20,ENST00000308375,;GMPPB,intron_variant,,ENST00000480687,;AMIGO3,intron_variant,,ENST00000535833,;GMPPB,intron_variant,,ENST00000308388,NM_013334.3,NM_021971.2;IP6K1,downstream_gene_variant,,ENST00000321599,NM_153273.3,NM_001242829.1;RNF123,downstream_gene_variant,,ENST00000327697,NM_022064.3;IP6K1,downstream_gene_variant,,ENST00000395238,NM_001006115.2;AMIGO3,upstream_gene_variant,,ENST00000320431,NM_198722.2;IP6K1,downstream_gene_variant,,ENST00000468463,;RNF123,downstream_gene_variant,,ENST00000433785,;RNF123,downstream_gene_variant,,ENST00000497099,;RNF123,downstream_gene_variant,,ENST00000487805,;RNF123,downstream_gene_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000457726,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000498376,;GMPPB,downstream_gene_variant,,ENST00000495627,;							MODIFIER	-/1083		GMPPB_HUMAN			Transcript			.	ENSP00000311130		CCDS2803.1			1	
IRF2BP1	0	LGGM	GRCh37	19	46388976	46388976	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	8	8	.	.	ENST00000302165.3:c.57G>T	p.Lys19Asn	p.K19N	ENST00000302165	NM_015649.1	19	aaG/aaT	0	1	1	UPI00000747C7	0	NA	ENST00000302165		ENSG00000170604	21728		16	1.5		HGNC	p.K19N		IRF2BP1		SNV							ENST00000302165	protein_coding	getma.org/?cm=var&var=hg19,19,46388976,C,A&fts=all		hmmpanther:PTHR10816:SF17,hmmpanther:PTHR10816,Pfam_domain:PF11261		K/N		A	low	401/2511		getma.org/?cm=msa&ty=f&p=I2BP1_HUMAN&rb=7&re=60&var=K19N	deleterious(0.01)				YES	IRF2BP1,missense_variant,p.Lys19Asn,ENST00000302165,NM_015649.1;MYPOP,downstream_gene_variant,,ENST00000322217,NM_001012643.2;							MODERATE	57/1755	K19N	I2BP1_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000307265		CCDS12678.1			1	
TMCO2	0	LGGM	GRCh37	1	40713865	40713865	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	97	8	.	.	ENST00000372766.3:c.200T>C	p.Ile67Thr	p.I67T	ENST00000372766	NM_001008740.3	67	aTa/aCa	0	1	1	UPI000007156B	0	NA	ENST00000372766		ENSG00000188800	23312		105	0		HGNC	p.I67T	rs759143120	TMCO2		SNV							ENST00000372766	protein_coding	getma.org/?cm=var&var=hg19,1,40713865,T,C&fts=all		Transmembrane_helices:TMhelix		I/T		C	neutral	293/739	1.50E-05	getma.org/?cm=msa&ty=f&p=TMCO2_HUMAN&rb=7&re=178&var=I67T	tolerated_low_confidence(0.26)				YES	TMCO2,missense_variant,p.Ile67Thr,ENST00000372766,NM_001008740.3;TMCO2,intron_variant,,ENST00000468258,;							MODERATE	200/549	I67T	TMCO2_HUMAN			Transcript		benign(0.031)	.	ENSP00000361852	8.24E-06	CCDS30684.1			1	
FBXW4	0	LGGM	GRCh37	10	103432682	103432682	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	8	8	.	.	ENST00000331272.7:c.665G>T	p.Arg222Met	p.R222M	ENST00000331272	NM_022039.3	222	aGg/aTg	0	1	1	UPI000012A581	0	NA	ENST00000331272		ENSG00000107829	10847		16	2.23		HGNC	p.R178M		FBXW4		SNV			1				ENST00000431477	protein_coding	getma.org/?cm=var&var=hg19,10,103432682,C,A&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR14381,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/M		A	medium	1284/2483		getma.org/?cm=msa&ty=f&p=FBXW4_HUMAN&rb=192&re=227&var=R222M	deleterious(0)				YES	FBXW4,missense_variant,p.Arg222Met,ENST00000331272,NM_022039.3;FBXW4,non_coding_transcript_exon_variant,,ENST00000457105,;FBXW4,downstream_gene_variant,,ENST00000489578,;							MODERATE	665/1239	R222M	FBXW4_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000359149		CCDS31271.1			1	
SYT3	0	LGGM	GRCh37	19	51135943	51135943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	17	9	.	.	ENST00000338916.4:c.274G>T	p.Gly92Cys	p.G92C	ENST00000338916	NM_032298.2	92	Ggc/Tgc	0	1	1	UPI0000047AEB	0	NA	ENST00000338916		ENSG00000213023	11511		26	0		HGNC	p.G92C		SYT3		SNV							ENST00000598997	protein_coding	getma.org/?cm=var&var=hg19,19,51135943,C,A&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176		G/C		A	neutral	908/2915		getma.org/?cm=msa&ty=f&p=SYT3_HUMAN&rb=89&re=288&var=G92C	tolerated(0.09)	M0QY70_HUMAN			YES	SYT3,missense_variant,p.Gly92Cys,ENST00000338916,NM_032298.2;SYT3,missense_variant,p.Gly92Cys,ENST00000544769,;SYT3,missense_variant,p.Gly92Cys,ENST00000593901,NM_001160328.1;SYT3,missense_variant,p.Gly92Cys,ENST00000600079,NM_001160329.1;SYT3,missense_variant,p.Gly92Cys,ENST00000598997,;							MODERATE	274/1773	G92C	SYT3_HUMAN			Transcript		benign(0.352)	.	ENSP00000340914		CCDS12798.1			1	
ADAM8	0	LGGM	GRCh37	10	135084449	135084449	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	0	9	.	.	ENST00000445355.3:c.1500G>A	p.Gly500=	p.G500=	ENST00000445355	NM_001109.4	500	ggG/ggA	0	1	1	UPI0001AE6E16	0		ENST00000445355		ENSG00000151651	215		9			HGNC	p.G500G		ADAM8		SNV							ENST00000415217	protein_coding			hmmpanther:PTHR11905:SF20,hmmpanther:PTHR11905,Pfam_domain:PF08516,SMART_domains:SM00608		G		T		1551/3279							YES	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,;							LOW	1500/2475		ADAM8_HUMAN			Transcript			.	ENSP00000453302		CCDS31319.2			1	
SERPING1	0	LGGM	GRCh37	11	57382042	57382042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	23	10	.	.	ENST00000278407.4:c.1491C>A	p.Asp497Glu	p.D497E	ENST00000278407	NM_000062.2	497	gaC/gaA	0	1	1	UPI000000123F	0	getma.org/pdb.php?prot=IC1_HUMAN&from=144&to=498&var=D497E	ENST00000278407		ENSG00000149131	1228		33	1.695		HGNC	p.D497E		SERPING1		SNV			1				ENST00000278407	protein_coding	getma.org/?cm=var&var=hg19,11,57382042,C,A&fts=all		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF156,SMART_domains:SM00093,Superfamily_domains:SSF56574		D/E		A	low	1718/2002		getma.org/?cm=msa&ty=f&p=IC1_HUMAN&rb=144&re=498&var=D497E	deleterious(0.02)	E9KL26_HUMAN,B5MCB9_HUMAN,B4E1H2_HUMAN			YES	SERPING1,missense_variant,p.Asp540Glu,ENST00000403558,NM_001032295.1;SERPING1,missense_variant,p.Asp497Glu,ENST00000278407,NM_000062.2;SERPING1,missense_variant,p.Asp445Glu,ENST00000378324,;SERPING1,missense_variant,p.Asp502Glu,ENST00000378323,;SERPING1,missense_variant,p.Asp460Glu,ENST00000340687,;SERPING1,3_prime_UTR_variant,,ENST00000531133,;SERPING1,3_prime_UTR_variant,,ENST00000528996,;SERPING1,3_prime_UTR_variant,,ENST00000531797,;SERPING1,downstream_gene_variant,,ENST00000530113,;							MODERATE	1491/1503	D497E	IC1_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000278407		CCDS7962.1			1	
CHD7	0	LGGM	GRCh37	8	61655359	61655359	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	30	11	.	.	ENST00000423902.2:c.1368G>A	p.Gln456=	p.Q456=	ENST00000423902	NM_017780.3	456	caG/caA	0	1	1	UPI0000251DA6	0		ENST00000423902		ENSG00000171316	20626		41			HGNC	p.Q456Q		CHD7		SNV			1				ENST00000307121	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551		Q		A		1847/10446				H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,synonymous_variant,p.=,ENST00000423902,NM_017780.3;CHD7,synonymous_variant,p.=,ENST00000525508,;CHD7,synonymous_variant,p.=,ENST00000524602,;CHD7,downstream_gene_variant,,ENST00000526846,;CHD7,intron_variant,,ENST00000527825,;CHD7,upstream_gene_variant,,ENST00000527900,;							LOW	1368/8994		CHD7_HUMAN			Transcript			.	ENSP00000392028		CCDS47865.1			1	
REEP6	0	LGGM	GRCh37	19	1495355	1495355	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	10	11	.	.	ENST00000233596.3:c.178C>G	p.Leu60Val	p.L60V	ENST00000233596	NM_138393.1	60	Ctc/Gtc	0	1	1	UPI00000702E3	0	NA	ENST00000233596		ENSG00000115255	30078		21	0.8		HGNC	p.L60V		REEP6		SNV							ENST00000233596	protein_coding	getma.org/?cm=var&var=hg19,19,1495355,C,G&fts=all		Pfam_domain:PF03134,hmmpanther:PTHR12300,hmmpanther:PTHR12300:SF30,Transmembrane_helices:TMhelix		L/V		G	neutral	282/1375		getma.org/?cm=msa&ty=f&p=REEP6_HUMAN&rb=50&re=144&var=L60V	tolerated(0.15)				YES	REEP6,missense_variant,p.Leu60Val,ENST00000233596,NM_138393.1;PCSK4,upstream_gene_variant,,ENST00000300954,NM_017573.3;PCSK4,upstream_gene_variant,,ENST00000588671,;REEP6,upstream_gene_variant,,ENST00000395479,;PCSK4,upstream_gene_variant,,ENST00000587784,;PCSK4,upstream_gene_variant,,ENST00000590057,;PCSK4,upstream_gene_variant,,ENST00000591687,;REEP6,non_coding_transcript_exon_variant,,ENST00000591735,;PCSK4,upstream_gene_variant,,ENST00000586616,;PCSK4,upstream_gene_variant,,ENST00000588195,;REEP6,upstream_gene_variant,,ENST00000395484,;							MODERATE	178/555	L60V	REEP6_HUMAN			Transcript		benign(0.181)	.	ENSP00000233596		CCDS12070.1			1	
NRXN2	0	LGGM	GRCh37	11	64427938	64427938	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	8	12	.	.	ENST00000265459.6:c.2255A>T	p.Glu752Val	p.E752V	ENST00000265459	NM_015080.3	752	gAg/gTg	0	1	1	UPI0000130AA2	0	getma.org/pdb.php?prot=NRX2A_HUMAN&from=732&to=904&var=E752V	ENST00000265459		ENSG00000110076	8009		20	2.85		HGNC	p.E752V		NRXN2		SNV			1				ENST00000265459	protein_coding	getma.org/?cm=var&var=hg19,11,64427938,T,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		E/V		A	medium	2717/6621		getma.org/?cm=msa&ty=f&p=NRX2A_HUMAN&rb=732&re=904&var=E752V	deleterious(0)				YES	NRXN2,missense_variant,p.Glu752Val,ENST00000265459,NM_015080.3;NRXN2,missense_variant,p.Glu721Val,ENST00000377559,NM_138732.2;NRXN2,missense_variant,p.Glu745Val,ENST00000409571,;NRXN2,missense_variant,p.Glu752Val,ENST00000377551,;AP001092.4,downstream_gene_variant,,ENST00000433606,;NRXN2,downstream_gene_variant,,ENST00000496291,;NRXN2,upstream_gene_variant,,ENST00000486057,;							MODERATE	2255/5139	E752V	NRX2A_HUMAN			Transcript		benign(0)	.	ENSP00000265459		CCDS8077.1			1	
DACH1	0	LGGM	GRCh37	13	72440197	72440197	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	3	12	.	.	ENST00000305425.4:c.711G>T	p.Arg237=	p.R237=	ENST00000305425	NM_080759.4	237	cgG/cgT	0	1	1	UPI00001FCE9E	0		ENST00000305425		ENSG00000165659	2663		15			HGNC	p.R237R		DACH1		SNV							ENST00000313174	protein_coding			Gene3D:3.10.260.20,Pfam_domain:PF02437,hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14,Superfamily_domains:SSF46955		R		A		1134/5239							YES	DACH1,synonymous_variant,p.=,ENST00000305425,NM_080759.4;DACH1,synonymous_variant,p.=,ENST00000313174,NM_080760.4;DACH1,synonymous_variant,p.=,ENST00000354591,NM_004392.5;DACH1,synonymous_variant,p.=,ENST00000359684,;							LOW	711/2127		DACH1_HUMAN			Transcript			.	ENSP00000304994		CCDS41899.1			1	
HERC2	0	LGGM	GRCh37	15	28424086	28424086	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	21	12	.	.	ENST00000261609.7:c.9110G>T	p.Arg3037Leu	p.R3037L	ENST00000261609	NM_004667.5	3037	cGg/cTg	0	1	1	UPI00004578F7	0	NA	ENST00000261609		ENSG00000128731	4868		33	2.415		HGNC	p.R3037L		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28424086,C,A&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Superfamily_domains:SSF50985		R/L		A	medium	9219/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=3010&re=3062&var=R3037L					YES	HERC2,missense_variant,p.Arg3037Leu,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000569772,;							MODERATE	9110/14505	R3037L	HERC2_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000261609		CCDS10021.1			1	
KRT36	0	LGGM	GRCh37	17	39645990	39645990	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	17	12	.	.	ENST00000328119.6:c.127G>A	p.Ala43Thr	p.A43T	ENST00000328119	NM_003771.4	43	Gcc/Acc	0	1	1	UPI000012DAFA	0	NA	ENST00000328119		ENSG00000126337	6454		29	0.895		HGNC	p.A43T	rs778992405	KRT36		SNV							ENST00000328119	protein_coding	getma.org/?cm=var&var=hg19,17,39645990,C,T&fts=all		hmmpanther:PTHR23239:SF144,hmmpanther:PTHR23239		A/T		T	low	127/1644		getma.org/?cm=msa&ty=f&p=KRT36_HUMAN&rb=1&re=91&var=A43T	tolerated(0.37)				YES	KRT36,missense_variant,p.Ala43Thr,ENST00000328119,NM_003771.4;KRT36,intron_variant,,ENST00000393986,;							MODERATE	127/1404	A43T	KRT36_HUMAN	0.000151		Transcript		benign(0.091)	.	ENSP00000329165	8.24E-06	CCDS11395.1			1	
ZNF557	0	LGGM	GRCh37	19	7083721	7083721	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	15	12	.	.	ENST00000414706.1:c.1259C>T	p.Ser420Phe	p.S420F	ENST00000414706	NM_024341.2	420	tCt/tTt	0	1	1	UPI000020324B	0	getma.org/pdb.php?prot=ZN557_HUMAN&from=409&to=423&var=S413F	ENST00000414706		ENSG00000130544	28632		27	1.445		HGNC	p.S420F		ZNF557		SNV							ENST00000414706	protein_coding	getma.org/?cm=var&var=hg19,19,7083721,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF145,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/F		T	low	1732/5990		getma.org/?cm=msa&ty=f&p=ZN557_HUMAN&rb=379&re=423&var=S413F	deleterious(0)	B2RD50_HUMAN			YES	ZNF557,missense_variant,p.Ser420Phe,ENST00000414706,NM_024341.2,NM_001044388.1,NM_001044387.1;ZNF557,missense_variant,p.Ser413Phe,ENST00000439035,;ZNF557,missense_variant,p.Ser420Phe,ENST00000252840,;CTB-25J19.9,upstream_gene_variant,,ENST00000598826,;							MODERATE	1259/1293	S413F	ZN557_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000404065		CCDS42485.1			1	
LRRC7	0	LGGM	GRCh37	1	70504915	70504915	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	11	12	.	.	ENST00000035383.5:c.3294G>A	p.Val1098=	p.V1098=	ENST00000035383	NM_020794.2	1098	gtG/gtA	0	1	1	UPI000006F29B	0		ENST00000035383		ENSG00000033122	18531		23			HGNC	p.V1103V	rs552010329	LRRC7		SNV							ENST00000310961	protein_coding					V		A		3324/5000							YES	LRRC7,synonymous_variant,p.=,ENST00000310961,;LRRC7,synonymous_variant,p.=,ENST00000035383,NM_020794.2;LRRC7,synonymous_variant,p.=,ENST00000415775,;							LOW	3294/4614		LRRC7_HUMAN			Transcript			.	ENSP00000035383		CCDS645.1			1	
NRXN2	0	LGGM	GRCh37	11	64427939	64427939	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	8	12	.	.	ENST00000265459.6:c.2254G>T	p.Glu752Ter	p.E752*	ENST00000265459	NM_015080.3	752	Gag/Tag	0	1	1	UPI0000130AA2	0	NA	ENST00000265459		ENSG00000110076	8009		20	0		HGNC	p.E752X		NRXN2		SNV			1				ENST00000265459	protein_coding	getma.org/?cm=var&var=hg19,11,64427939,C,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF593,hmmpanther:PTHR10127,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		E/*		A	NA	2716/6621		NA					YES	NRXN2,stop_gained,p.Glu752Ter,ENST00000265459,NM_015080.3;NRXN2,stop_gained,p.Glu721Ter,ENST00000377559,NM_138732.2;NRXN2,stop_gained,p.Glu745Ter,ENST00000409571,;NRXN2,stop_gained,p.Glu752Ter,ENST00000377551,;AP001092.4,downstream_gene_variant,,ENST00000433606,;NRXN2,downstream_gene_variant,,ENST00000496291,;NRXN2,upstream_gene_variant,,ENST00000486057,;							HIGH	2254/5139	E752*	NRX2A_HUMAN			Transcript			.	ENSP00000265459		CCDS8077.1			1	
RRAGA	0	LGGM	GRCh37	9	19050040	19050040	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	8	12	.	.	ENST00000380527.1:c.383A>G	p.Lys128Arg	p.K128R	ENST00000380527	NM_006570.4	128	aAa/aGa	0	1	1	UPI000006D235	0	getma.org/pdb.php?prot=RRAGA_HUMAN&from=9&to=235&var=K128R	ENST00000380527		ENSG00000155876	16963		20	3.935		HGNC	p.K128R		RRAGA		SNV							ENST00000380527	protein_coding	getma.org/?cm=var&var=hg19,9,19050040,A,G&fts=all		hmmpanther:PTHR11259,hmmpanther:PTHR11259:SF4,Pfam_domain:PF04670,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		K/R		G	high	669/1648		getma.org/?cm=msa&ty=f&p=RRAGA_HUMAN&rb=9&re=235&var=K128R	deleterious(0)				YES	RRAGA,missense_variant,p.Lys128Arg,ENST00000380527,NM_006570.4;HAUS6,downstream_gene_variant,,ENST00000380502,NM_017645.4,NM_001270890.1;							MODERATE	383/942	K128R	RRAGA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369899		CCDS6488.1			1	
PREX2	0	LGGM	GRCh37	8	69058518	69058518	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	11	13	.	.	ENST00000288368.4:c.4162T>C	p.Phe1388Leu	p.F1388L	ENST00000288368	NM_024870.2	1388	Ttt/Ctt	0	1	1	UPI0000375435	0	NA	ENST00000288368		ENSG00000046889	22950		24	2.19		HGNC	p.F1388L		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,69058518,T,C&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1		F/L		C	medium	4439/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=1346&re=1545&var=F1388L	deleterious(0.01)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Phe1388Leu,ENST00000288368,NM_024870.2,NM_025170.4;							MODERATE	4162/4821	F1388L	PREX2_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000288368		CCDS6201.1			1	
TP53	0	LGGM	GRCh37	17	7578496	7578496	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	0	13	.	.	ENST00000269305.4:c.434T>C	p.Leu145Pro	p.L145P	ENST00000269305	NM_001126112.2	145	cTg/cCg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=L145P	ENST00000269305	uncertain_significance	ENSG00000141510	11998		13	2.175		HGNC	p.L145P	rs587782197,TP53_g.12422T>C,COSM43899	TP53		SNV			1			1,0,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578496,A,G&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		L/P		G	medium	624/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=L145P	tolerated(0.05)	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			YES	TP53,missense_variant,p.Leu145Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Leu145Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Leu145Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Leu145Pro,ENST00000445888,;TP53,missense_variant,p.Leu145Pro,ENST00000359597,;TP53,missense_variant,p.Leu145Pro,ENST00000413465,;TP53,missense_variant,p.Leu13Pro,ENST00000509690,;TP53,missense_variant,p.Leu145Pro,ENST00000508793,;TP53,missense_variant,p.Leu138Pro,ENST00000604348,;TP53,missense_variant,p.Leu52Pro,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,;					0,0,1		MODERATE	434/1182	L145P	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
MYOF	0	LGGM	GRCh37	10	95148827	95148827	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	35	13	.	.	ENST00000359263.4:c.1541C>T	p.Thr514Met	p.T514M	ENST00000359263	NM_013451.3	514	aCg/aTg	0	1	1	UPI000012FBA1	0	NA	ENST00000359263		ENSG00000138119	3656	0.000173	48	2.67		HGNC	p.T514M	rs374984115	MYOF	0.000545	SNV	C:0						ENST00000371501	protein_coding	getma.org/?cm=var&var=hg19,10,95148827,G,A&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38		T/M	C:0.0002	A	medium	1541/6719	1.50E-05	getma.org/?cm=msa&ty=f&p=MYOF_HUMAN&rb=459&re=658&var=T514M	deleterious(0)				YES	MYOF,missense_variant,p.Thr514Met,ENST00000371501,;MYOF,missense_variant,p.Thr514Met,ENST00000371502,;MYOF,missense_variant,p.Thr514Met,ENST00000359263,NM_013451.3;MYOF,missense_variant,p.Thr501Met,ENST00000358334,NM_133337.2;							MODERATE	1541/6186	T514M	MYOF_HUMAN			Transcript		probably_damaging(0.915)	common_variant	ENSP00000352208	0.000108	CCDS41551.1	0.00111		1	
ZNF91	0	LGGM	GRCh37	19	23557475	23557475	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	122	13	.	.	ENST00000300619.7:c.122T>C	p.Val41Ala	p.V41A	ENST00000300619	NM_003430.2	41	gTg/gCg	0	1	1	UPI00002038F9	0	getma.org/pdb.php?prot=ZNF91_HUMAN&from=13&to=53&var=V41A	ENST00000300619		ENSG00000167232	13166		135	4.055		HGNC	p.V41A		ZNF91		SNV							ENST00000397082	protein_coding	getma.org/?cm=var&var=hg19,19,23557475,A,G&fts=all		Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50805		V/A		G	high	328/5489		getma.org/?cm=msa&ty=f&p=ZNF91_HUMAN&rb=13&re=53&var=V41A	deleterious(0)	M0R186_HUMAN			YES	ZNF91,missense_variant,p.Val41Ala,ENST00000300619,NM_003430.2;ZNF91,missense_variant,p.Val41Ala,ENST00000397082,;ZNF91,missense_variant,p.Val41Ala,ENST00000599743,;ZNF91,intron_variant,,ENST00000595533,;ZNF91,non_coding_transcript_exon_variant,,ENST00000596989,;							MODERATE	122/3576	V41A	ZNF91_HUMAN			Transcript		possibly_damaging(0.454)	.	ENSP00000300619		CCDS42541.1			1	
TBC1D26	0	LGGM	GRCh37	17	15638732	15638732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	2	14	.	.	ENST00000437605.2:c.70G>A	p.Glu24Lys	p.E24K	ENST00000437605	NM_178571.4	24	Gag/Aag	0	1		UPI0000246DD7	0	NA	ENST00000469477		ENSG00000214946	28745		16	1.57		HGNC	p.E24K		TBC1D26		SNV							ENST00000579428	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,17,15638732,G,A&fts=all		hmmpanther:PTHR22957:SF242,hmmpanther:PTHR22957		E/K		A	low	314/1616		getma.org/?cm=msa&ty=f&p=TBC26_HUMAN&rb=1&re=103&var=E24K	deleterious(0.04)	J3QQK9_HUMAN,J3QLL4_HUMAN				TBC1D26,missense_variant,p.Glu24Lys,ENST00000437605,NM_178571.4;TBC1D26,missense_variant,p.Glu24Lys,ENST00000579428,;TBC1D26,missense_variant,p.Glu24Lys,ENST00000464963,;TBC1D26,missense_variant,p.Glu24Lys,ENST00000580596,;ZNF286A,3_prime_UTR_variant,,ENST00000593105,;TBC1D26,downstream_gene_variant,,ENST00000584301,;TBC1D26,downstream_gene_variant,,ENST00000578506,;AC005324.6,intron_variant,,ENST00000434017,;AC005324.6,downstream_gene_variant,,ENST00000433873,;ZNF286A,downstream_gene_variant,,ENST00000585171,;ZNF286A,downstream_gene_variant,,ENST00000583675,;TBC1D26,downstream_gene_variant,,ENST00000583620,;TBC1D26,downstream_gene_variant,,ENST00000582140,;TBC1D26,downstream_gene_variant,,ENST00000582534,;TBC1D26,missense_variant,p.Glu24Lys,ENST00000469477,;ZNF286A,3_prime_UTR_variant,,ENST00000412988,;TBC1D26,non_coding_transcript_exon_variant,,ENST00000491819,;ZNF286A,intron_variant,,ENST00000413242,;TBC1D26,upstream_gene_variant,,ENST00000580970,;							MODERATE	70/753	E24K	TBC26_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000434391		CCDS42265.1			1	
ALB	0	LGGM	GRCh37	4	74279328	74279337	+	frameshift_variant	Frame_Shift_Del	DEL	GGCAAAGGAT	GGCAAAGGAT	-	novel	by Submitter	H080217	H080217N.bam	GGCAAAGGAT	GGCAAAGGAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	17	14	.	.	ENST00000295897.4:c.1036_1045del	p.Ala346SerfsTer23	p.A346Sfs*23	ENST00000295897	NM_000477.5	345	gaGGCAAAGGAT/ga	0	1	1	UPI000002C1AC	0		ENST00000295897		ENSG00000163631	399		31			HGNC	p.345_348del		ALB		deletion			1				ENST00000295897	protein_coding			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		EAKD/X		-		1124-1133/2263							YES	ALB,frameshift_variant,p.Ala346SerfsTer23,ENST00000295897,NM_000477.5;ALB,frameshift_variant,p.Ala346SerfsTer23,ENST00000509063,;ALB,frameshift_variant,p.Ala196SerfsTer23,ENST00000503124,;ALB,frameshift_variant,p.Ala231SerfsTer23,ENST00000401494,;ALB,frameshift_variant,p.Ala191SerfsTer23,ENST00000511370,;ALB,frameshift_variant,p.Ala154SerfsTer23,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,non_coding_transcript_exon_variant,,ENST00000504043,;ALB,downstream_gene_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000486939,;ALB,downstream_gene_variant,,ENST00000507673,;							HIGH	1035-1044/1830		ALBU_HUMAN			Transcript	1		.	ENSP00000295897		CCDS3555.1			1	
POLR3B	0	LGGM	GRCh37	12	106895158	106895158	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	16	15	.	.	ENST00000228347.4:c.3042C>G	p.His1014Gln	p.H1014Q	ENST00000228347	NM_018082.5	1014	caC/caG	0	1	1	UPI000000DB67	0	getma.org/pdb.php?prot=RPC2_HUMAN&from=666&to=1041&var=H1014Q	ENST00000228347		ENSG00000013503	30348		31	3.67		HGNC	p.H956Q		POLR3B		SNV			1				ENST00000539066	protein_coding	getma.org/?cm=var&var=hg19,12,106895158,C,G&fts=all		Gene3D:2a6hC01,Pfam_domain:PF00562,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Superfamily_domains:SSF64484		H/Q		G	high	3264/4273		getma.org/?cm=msa&ty=f&p=RPC2_HUMAN&rb=666&re=1041&var=H1014Q	deleterious(0)	F8VRU2_HUMAN,B3KRQ8_HUMAN			YES	POLR3B,missense_variant,p.His1014Gln,ENST00000228347,NM_018082.5;POLR3B,missense_variant,p.His956Gln,ENST00000539066,NM_001160708.1;RP11-144F15.1,intron_variant,,ENST00000551505,;RP11-144F15.1,intron_variant,,ENST00000549203,;							MODERATE	3042/3402	H1014Q	RPC2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000228347		CCDS9105.1			1	
LIMA1	0	LGGM	GRCh37	12	50598483	50598483	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	26	16	.	.	ENST00000394943.3:c.716G>A	p.Gly239Asp	p.G239D	ENST00000394943		239	gGt/gAt	0	1		UPI0000037BF2	0	NA	ENST00000341247		ENSG00000050405	24636		42	2.015		HGNC	p.G79D		LIMA1		SNV							ENST00000552823	protein_coding	getma.org/?cm=var&var=hg19,12,50598483,C,T&fts=all		hmmpanther:PTHR24206,hmmpanther:PTHR24206:SF27		G/D		T	medium	866/3706		getma.org/?cm=msa&ty=f&p=LIMA1_HUMAN&rb=201&re=389&var=G239D	deleterious(0.02)	F8VVQ7_HUMAN,F8VTU2_HUMAN				LIMA1,missense_variant,p.Gly239Asp,ENST00000341247,NM_016357.4,NM_001113546.1;LIMA1,missense_variant,p.Gly239Asp,ENST00000394943,;LIMA1,missense_variant,p.Gly79Asp,ENST00000552783,NM_001113547.1;LIMA1,missense_variant,p.Gly79Asp,ENST00000552823,;LIMA1,missense_variant,p.Gly79Asp,ENST00000552909,;LIMA1,upstream_gene_variant,,ENST00000547825,NM_001243775.1;LIMA1,upstream_gene_variant,,ENST00000552491,;LIMA1,splice_region_variant,,ENST00000552008,;LIMA1,missense_variant,p.Gly239Asp,ENST00000552720,;LIMA1,splice_region_variant,,ENST00000551486,;LIMA1,upstream_gene_variant,,ENST00000552045,;							MODERATE	716/2280	G239D	LIMA1_HUMAN			Transcript		benign(0.078)	.	ENSP00000340184		CCDS8802.1			1	
MUC4	0	LGGM	GRCh37	3	195509019	195509019	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	37	16	.	.	ENST00000463781.3:c.9432A>T	p.Ser3144=	p.S3144=	ENST00000463781	NM_018406.6	3144	tcA/tcT	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		53			HGNC	p.S3144S		MUC4		SNV							ENST00000477086	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,Low_complexity_(Seg):seg		S		A		9892/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	9432/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
SPATA6	0	LGGM	GRCh37	1	48877238	48877238	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	24	17	.	.	ENST00000371847.3:c.303T>G	p.Tyr101Ter	p.Y101*	ENST00000371847	NM_019073.2	101	taT/taG	0	1	1	UPI0000049C41	0	NA	ENST00000371847		ENSG00000132122	18309		41	0		HGNC	p.Y101X		SPATA6		SNV							ENST00000371843	protein_coding	getma.org/?cm=var&var=hg19,1,48877238,A,C&fts=all		hmmpanther:PTHR16435:SF3,hmmpanther:PTHR16435,Pfam_domain:PF14909		Y/*		C	NA	468/4973		NA					YES	SPATA6,stop_gained,p.Tyr101Ter,ENST00000371847,NM_019073.2,NM_001286239.1;SPATA6,stop_gained,p.Tyr101Ter,ENST00000371843,NM_001286238.1;SPATA6,stop_gained,p.Tyr29Ter,ENST00000396199,;SPATA6,non_coding_transcript_exon_variant,,ENST00000463938,;SPATA6,non_coding_transcript_exon_variant,,ENST00000471975,;SPATA6,non_coding_transcript_exon_variant,,ENST00000465990,;SPATA6,3_prime_UTR_variant,,ENST00000487543,;							HIGH	303/1467	Y101*	SPAT6_HUMAN			Transcript			.	ENSP00000360913		CCDS551.1			1	
MIB1	0	LGGM	GRCh37	18	19358066	19358066	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	22	17	.	.	ENST00000261537.6:c.639T>G	p.Ser213=	p.S213=	ENST00000261537	NM_020774.3	213	tcT/tcG	0	1	1	UPI000000D833	0		ENST00000261537		ENSG00000101752	21086		39			HGNC	p.S213S		MIB1		SNV			1				ENST00000261537	protein_coding			PROSITE_profiles:PS51416,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,Pfam_domain:PF06701,Superfamily_domains:0053823		S		G		903/9576				B3KRA8_HUMAN			YES	MIB1,splice_region_variant,p.=,ENST00000261537,NM_020774.3;AC091038.1,downstream_gene_variant,,ENST00000582102,;MIB1,splice_region_variant,,ENST00000578646,;							LOW	639/3021		MIB1_HUMAN			Transcript			.	ENSP00000261537		CCDS11871.1			1	
MSANTD1	0	LGGM	GRCh37	4	3255097	3255097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	11	18	.	.	ENST00000438480.2:c.484C>A	p.Pro162Thr	p.P162T	ENST00000438480	NM_001042690.1	162	Ccg/Acg	0	1	1	UPI000036721F	0	NA	ENST00000438480		ENSG00000188981	33741		29	1.87		HGNC	p.P162T		MSANTD1		SNV							ENST00000510580	protein_coding	getma.org/?cm=var&var=hg19,4,3255097,C,A&fts=all		hmmpanther:PTHR22666		P/T		A	low	2231/2922		getma.org/?cm=msa&ty=f&p=MSD1_HUMAN&rb=1&re=200&var=P162T	deleterious(0.02)				YES	MSANTD1,missense_variant,p.Pro162Thr,ENST00000438480,NM_001042690.1;MSANTD1,missense_variant,p.Pro149Thr,ENST00000507492,;MSANTD1,missense_variant,p.Pro162Thr,ENST00000510580,;MSANTD1,missense_variant,p.Pro162Thr,ENST00000505599,;							MODERATE	484/837	P162T	MSD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000411584		CCDS47003.1			1	
DUSP1	0	LGGM	GRCh37	5	172195808	172195808	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	13	19	.	.	ENST00000239223.3:c.1061T>A	p.Leu354Gln	p.L354Q	ENST00000239223	NM_004417.3	354	cTg/cAg	0	1	1	UPI000004EED8	0	NA	ENST00000239223		ENSG00000120129	3064		32	1.79		HGNC	p.L354Q		DUSP1		SNV							ENST00000239223	protein_coding	getma.org/?cm=var&var=hg19,5,172195808,A,T&fts=all		hmmpanther:PTHR10159:SF309,hmmpanther:PTHR10159,PIRSF_domain:PIRSF000939		L/Q		T	low	1304/2019		getma.org/?cm=msa&ty=f&p=DUS1_HUMAN&rb=175&re=367&var=L354Q	deleterious(0)	B4E2X6_HUMAN			YES	DUSP1,missense_variant,p.Leu354Gln,ENST00000239223,NM_004417.3;RP11-779O18.3,intron_variant,,ENST00000523005,;							MODERATE	1061/1104	L354Q	DUS1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000239223		CCDS4380.1			1	
MUC4	0	LGGM	GRCh37	3	195509095	195509095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	44	19	.	.	ENST00000463781.3:c.9356C>A	p.Thr3119Asn	p.T3119N	ENST00000463781	NM_018406.6	3119	aCc/aAc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		63	0.55		HGNC	p.T3119N		MUC4		SNV							ENST00000477086	protein_coding	getma.org/?cm=var&var=hg19,3,195509095,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T/N		T	neutral	9816/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=T3119N		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Thr3119Asn,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3119Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3119Asn,ENST00000478156,;MUC4,missense_variant,p.Thr3119Asn,ENST00000466475,;MUC4,missense_variant,p.Thr3119Asn,ENST00000477756,;MUC4,missense_variant,p.Thr3119Asn,ENST00000477086,;MUC4,missense_variant,p.Thr3119Asn,ENST00000480843,;MUC4,missense_variant,p.Thr3119Asn,ENST00000462323,;MUC4,missense_variant,p.Thr3119Asn,ENST00000470451,;MUC4,missense_variant,p.Thr3119Asn,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	9356/16239	T3119N				Transcript		probably_damaging(0.945)	.	ENSP00000417498		CCDS54700.1			1	
CYP2C8	0	LGGM	GRCh37	10	96818201	96818201	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	17	20	.	.	ENST00000371270.3:c.710T>G	p.Val237Gly	p.V237G	ENST00000371270	NM_000770.3	237	gTt/gGt	0	1	1	UPI0000128256	0	getma.org/pdb.php?prot=CP2C8_HUMAN&from=30&to=487&var=V237G	ENST00000371270		ENSG00000138115	2622		37	1.63		HGNC	p.V237G		CYP2C8		SNV			1				ENST00000527420	protein_coding	getma.org/?cm=var&var=hg19,10,96818201,A,C&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Superfamily_domains:SSF48264		V/G		C	low	805/1923		getma.org/?cm=msa&ty=f&p=CP2C8_HUMAN&rb=30&re=487&var=V237G	tolerated(0.16)	B7Z1F5_HUMAN			YES	CYP2C8,missense_variant,p.Val237Gly,ENST00000371270,NM_000770.3,NM_001198855.1,NM_001198853.1;CYP2C8,missense_variant,p.Val135Gly,ENST00000535898,NM_001198854.1;CYP2C8,missense_variant,p.Val151Gly,ENST00000539050,;CYP2C8,missense_variant,p.Val237Gly,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;							MODERATE	710/1473	V237G	CP2C8_HUMAN			Transcript		benign(0.018)	.	ENSP00000360317		CCDS7438.1			1	
NSMCE4A	0	LGGM	GRCh37	10	123719101	123719101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	2	20	.	.	ENST00000369023.3:c.998G>A	p.Ser333Asn	p.S333N	ENST00000369023	NM_001167865.1	333	aGt/aAt	0	1	1	UPI000013D40C	0	NA	ENST00000369023		ENSG00000107672	25935		22	-1.04		HGNC	p.S333N		NSMCE4A		SNV							ENST00000369023	protein_coding	getma.org/?cm=var&var=hg19,10,123719101,C,T&fts=all		hmmpanther:PTHR16140,hmmpanther:PTHR16140:SF2,Pfam_domain:PF08743		S/N		T	neutral	1050/1394		getma.org/?cm=msa&ty=f&p=NSE4A_HUMAN&rb=80&re=377&var=S333N	tolerated(1)				YES	NSMCE4A,missense_variant,p.Ser333Asn,ENST00000369023,NM_001167865.1,NM_017615.2;NSMCE4A,downstream_gene_variant,,ENST00000538652,;NSMCE4A,downstream_gene_variant,,ENST00000369017,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000489266,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000468209,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000459911,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000477289,;NSMCE4A,downstream_gene_variant,,ENST00000483541,;							MODERATE	998/1158	S333N	NSE4A_HUMAN			Transcript		benign(0.004)	.	ENSP00000358019		CCDS7624.1			1	
TMC1	0	LGGM	GRCh37	9	75403376	75403376	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	12	20	.	.	ENST00000297784.5:c.1006A>T	p.Asn336Tyr	p.N336Y	ENST00000297784	NM_138691.2	336	Aat/Tat	0	1	1	UPI0000161FA9	0	NA	ENST00000297784		ENSG00000165091	16513		32	0.69		HGNC	p.N336Y		TMC1		SNV			1				ENST00000297784	protein_coding	getma.org/?cm=var&var=hg19,9,75403376,A,T&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18		N/Y		T	neutral	1546/3201		getma.org/?cm=msa&ty=f&p=TMC1_HUMAN&rb=201&re=400&var=N336Y	deleterious(0)				YES	TMC1,missense_variant,p.Asn336Tyr,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Asn336Tyr,ENST00000340019,;TMC1,missense_variant,p.Asn336Tyr,ENST00000396237,;TMC1,upstream_gene_variant,,ENST00000486417,;							MODERATE	1006/2283	N336Y	TMC1_HUMAN			Transcript		possibly_damaging(0.492)	.	ENSP00000297784		CCDS6643.1			1	
LRRIQ1	0	LGGM	GRCh37	12	85449704	85449704	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	28	20	.	.	ENST00000393217.2:c.1133T>A	p.Leu378Gln	p.L378Q	ENST00000393217	NM_001079910.1	378	cTa/cAa	0	1	1	UPI0000ED4E82	0	NA	ENST00000393217		ENSG00000133640	25708		48	0.11		HGNC	p.L378Q		LRRIQ1		SNV							ENST00000393217	protein_coding	getma.org/?cm=var&var=hg19,12,85449704,T,A&fts=all		Coiled-coils_(Ncoils):Coil		L/Q		A	neutral	1194/5394		getma.org/?cm=msa&ty=f&p=LRIQ1_HUMAN&rb=1&re=699&var=L378Q	tolerated(0.28)	A8MY60_HUMAN			YES	LRRIQ1,missense_variant,p.Leu378Gln,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000533414,;LRRIQ1,non_coding_transcript_exon_variant,,ENST00000525971,;							MODERATE	1133/5169	L378Q	LRIQ1_HUMAN			Transcript		benign(0.209)	.	ENSP00000376910		CCDS41816.1			1	
RNF182	0	LGGM	GRCh37	6	13977847	13977847	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	32	20	.	.	ENST00000488300.1:c.497A>G	p.His166Arg	p.H166R	ENST00000488300	NM_152737.3	166	cAc/cGc	0	1	1	UPI000006E1CA	0	NA	ENST00000488300		ENSG00000180537	28522		52	0.345		HGNC	p.H166R		RNF182		SNV							ENST00000537663	protein_coding	getma.org/?cm=var&var=hg19,6,13977847,A,G&fts=all		hmmpanther:PTHR13139		H/R		G	neutral	1020/3706		getma.org/?cm=msa&ty=f&p=RN182_HUMAN&rb=100&re=234&var=H166R	tolerated(0.57)	C9JVS8_HUMAN,C9JAK6_HUMAN,C9IZ30_HUMAN			YES	RNF182,missense_variant,p.His166Arg,ENST00000488300,NM_152737.3;RNF182,missense_variant,p.His166Arg,ENST00000544682,NM_001165032.1;RNF182,missense_variant,p.His166Arg,ENST00000537663,NM_001165034.1;RNF182,missense_variant,p.His166Arg,ENST00000537388,NM_001165033.1;RNF182,downstream_gene_variant,,ENST00000420478,;RNF182,downstream_gene_variant,,ENST00000488763,;RNF182,downstream_gene_variant,,ENST00000423553,;RNF182,downstream_gene_variant,,ENST00000471906,;							MODERATE	497/744	H166R	RN182_HUMAN			Transcript		benign(0.016)	.	ENSP00000420465		CCDS4531.1			1	
PUF60	0	LGGM	GRCh37	8	144898890	144898890	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	42	21	.	.	ENST00000526683.1:c.1480A>T	p.Asn494Tyr	p.N494Y	ENST00000526683	NM_001271098.1	494	Aac/Tac	0	1	1	UPI00000713CF	0	getma.org/pdb.php?prot=PUF60_HUMAN&from=462&to=549&var=N494Y	ENST00000526683		ENSG00000179950	17042		63	1.22		HGNC	p.N494Y		PUF60		SNV							ENST00000526683	protein_coding	getma.org/?cm=var&var=hg19,8,144898890,T,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF246,hmmpanther:PTHR24011,Gene3D:3.30.70.330,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928		N/Y		A	low	2036/2412		getma.org/?cm=msa&ty=f&p=PUF60_HUMAN&rb=462&re=549&var=N494Y	deleterious(0.02)				YES	PUF60,missense_variant,p.Asn494Tyr,ENST00000526683,NM_001271098.1,NM_078480.2;PUF60,missense_variant,p.Asn451Tyr,ENST00000453551,NM_001136033.2;PUF60,missense_variant,p.Asn477Tyr,ENST00000349157,NM_014281.4,NM_001271096.1;PUF60,missense_variant,p.Asn434Tyr,ENST00000313352,NM_001271100.1;PUF60,missense_variant,p.Asn465Tyr,ENST00000456095,NM_001271099.1;PUF60,missense_variant,p.Asn448Tyr,ENST00000527197,NM_001271097.1;SCRIB,upstream_gene_variant,,ENST00000356994,NM_182706.4;SCRIB,upstream_gene_variant,,ENST00000320476,NM_015356.4;SCRIB,upstream_gene_variant,,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000527744,;PUF60,downstream_gene_variant,,ENST00000526459,;PUF60,downstream_gene_variant,,ENST00000529999,;PUF60,downstream_gene_variant,,ENST00000532884,;PUF60,downstream_gene_variant,,ENST00000531897,;PUF60,downstream_gene_variant,,ENST00000533162,;MIR937,upstream_gene_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000531951,;PUF60,downstream_gene_variant,,ENST00000533362,;PUF60,downstream_gene_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000528320,;PUF60,downstream_gene_variant,,ENST00000529693,;PUF60,downstream_gene_variant,,ENST00000531995,;PUF60,downstream_gene_variant,,ENST00000532127,;PUF60,downstream_gene_variant,,ENST00000526151,;PUF60,downstream_gene_variant,,ENST00000527584,;							MODERATE	1480/1680	N494Y	PUF60_HUMAN			Transcript		benign(0.09)	.	ENSP00000434359		CCDS47934.1			1	
TACR1	0	LGGM	GRCh37	2	75425698	75425698	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	18	21	.	.	ENST00000305249.5:c.363C>A	p.Tyr121Ter	p.Y121*	ENST00000305249	NM_001058.3	121	taC/taA	0	1	1	UPI0000039D68	0	NA	ENST00000305249		ENSG00000115353	11526		39	0		HGNC	p.Y121X		TACR1		SNV							ENST00000409848	protein_coding	getma.org/?cm=var&var=hg19,2,75425698,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF14,hmmpanther:PTHR24242,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		Y/*		T	NA	1129/4959		NA		Q53TR1_HUMAN,Q53TQ2_HUMAN			YES	TACR1,stop_gained,p.Tyr121Ter,ENST00000305249,NM_001058.3;TACR1,stop_gained,p.Tyr121Ter,ENST00000409848,NM_015727.2;							HIGH	363/1224	Y121*	NK1R_HUMAN			Transcript			.	ENSP00000303522		CCDS1958.1			1	
BARX2	0	LGGM	GRCh37	11	129321154	129321154	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	18	22	.	.	ENST00000281437.4:c.697C>T	p.Gln233Ter	p.Q233*	ENST00000281437	NM_003658.4	233	Cag/Tag	0	1	1	UPI000013DC78	0	NA	ENST00000281437		ENSG00000043039	956		40	0		HGNC	p.Q111X		BARX2		SNV							ENST00000531946	protein_coding	getma.org/?cm=var&var=hg19,11,129321154,C,T&fts=all		hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF7		Q/*		T	NA	793/1810		NA		G3V397_HUMAN			YES	BARX2,stop_gained,p.Gln233Ter,ENST00000281437,NM_003658.4;BARX2,stop_gained,p.Gln88Ter,ENST00000526127,;BARX2,stop_gained,p.Gln111Ter,ENST00000531946,;							HIGH	697/840	Q233*	BARX2_HUMAN			Transcript			.	ENSP00000281437		CCDS8481.1			1	
DOCK10	0	LGGM	GRCh37	2	225672792	225672792	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	36	22	.	.	ENST00000258390.7:c.3421T>A	p.Tyr1141Asn	p.Y1141N	ENST00000258390	NM_014689.2	1141	Tat/Aat	0	1	1	UPI000021D2A7	0	NA	ENST00000258390		ENSG00000135905	23479		58	2.585		HGNC	p.Y1135N		DOCK10		SNV							ENST00000409592	protein_coding	getma.org/?cm=var&var=hg19,2,225672792,A,T&fts=all		hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317		Y/N		T	medium	3489/7260		getma.org/?cm=msa&ty=f&p=DOC10_HUMAN&rb=1061&re=1260&var=Y1141N	deleterious(0)	Q4ZG60_HUMAN,Q3LIC8_HUMAN			YES	DOCK10,missense_variant,p.Tyr1135Asn,ENST00000409592,;DOCK10,missense_variant,p.Tyr1141Asn,ENST00000258390,NM_014689.2;DOCK10,missense_variant,p.Tyr32Asn,ENST00000422684,;DOCK10,upstream_gene_variant,,ENST00000489831,;							MODERATE	3421/6561	Y1141N	DOC10_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000258390		CCDS46528.1			1	
DOCK10	0	LGGM	GRCh37	2	225672791	225672791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	36	22	.	.	ENST00000258390.7:c.3422A>T	p.Tyr1141Phe	p.Y1141F	ENST00000258390	NM_014689.2	1141	tAt/tTt	0	1	1	UPI000021D2A7	0	NA	ENST00000258390		ENSG00000135905	23479		58	1.015		HGNC	p.Y1135F		DOCK10		SNV							ENST00000409592	protein_coding	getma.org/?cm=var&var=hg19,2,225672791,T,A&fts=all		hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317		Y/F		A	low	3490/7260		getma.org/?cm=msa&ty=f&p=DOC10_HUMAN&rb=1061&re=1260&var=Y1141F	tolerated(0.22)	Q4ZG60_HUMAN,Q3LIC8_HUMAN			YES	DOCK10,missense_variant,p.Tyr1135Phe,ENST00000409592,;DOCK10,missense_variant,p.Tyr1141Phe,ENST00000258390,NM_014689.2;DOCK10,missense_variant,p.Tyr32Phe,ENST00000422684,;DOCK10,upstream_gene_variant,,ENST00000489831,;							MODERATE	3422/6561	Y1141F	DOC10_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000258390		CCDS46528.1			1	
PTPRR	0	LGGM	GRCh37	12	71078488	71078488	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	20	24	.	.	ENST00000283228.2:c.1355T>G	p.Ile452Ser	p.I452S	ENST00000283228	NM_002849.3	452	aTt/aGt	0	1	1	UPI000013DD2F	0	getma.org/pdb.php?prot=PTPRR_HUMAN&from=415&to=646&var=I452S	ENST00000283228		ENSG00000153233	9680		44	4.255		HGNC	p.I207S		PTPRR		SNV							ENST00000440835	protein_coding	getma.org/?cm=var&var=hg19,12,71078488,A,C&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF41,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799,Prints_domain:PR01778,Prints_domain:PR00700		I/S		C	high	1808/3529		getma.org/?cm=msa&ty=f&p=PTPRR_HUMAN&rb=415&re=646&var=I452S	deleterious(0)	Q68CP6_HUMAN,F8VVE9_HUMAN			YES	PTPRR,missense_variant,p.Ile452Ser,ENST00000283228,NM_002849.3;PTPRR,missense_variant,p.Ile207Ser,ENST00000440835,NM_130846.2;PTPRR,missense_variant,p.Ile246Ser,ENST00000378778,NM_001207016.1;PTPRR,missense_variant,p.Ile340Ser,ENST00000342084,NM_001207015.1;PTPRR,missense_variant,p.Ile207Ser,ENST00000549308,;PTPRR,downstream_gene_variant,,ENST00000550661,;PTPRR,non_coding_transcript_exon_variant,,ENST00000548220,;PTPRR,non_coding_transcript_exon_variant,,ENST00000549107,;PTPRR,missense_variant,p.Ile51Ser,ENST00000551219,;							MODERATE	1355/1974	I452S	PTPRR_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000283228		CCDS8998.1			1	
DOPEY1	0	LGGM	GRCh37	6	83847742	83847742	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	28	25	.	.	ENST00000349129.2:c.3981T>C	p.Asp1327=	p.D1327=	ENST00000349129	NM_015018.3	1327	gaT/gaC	0	1	1	UPI00001C1574	0		ENST00000349129		ENSG00000083097	21194		53			HGNC	p.D1327D	rs766516893	DOPEY1		SNV							ENST00000349129	protein_coding			hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		D		C		4241/8210	1.51E-05						YES	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,;							LOW	3981/7398		DOP1_HUMAN			Transcript			.	ENSP00000195654	8.24E-06	CCDS4996.1			1	
RORA	0	LGGM	GRCh37	15	60797768	60797768	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	23	25	.	.	ENST00000261523.5:c.980A>C	p.Glu327Ala	p.E327A	ENST00000261523	NM_134260.2	327	gAg/gCg	0	1		UPI000002B2A7	0	getma.org/pdb.php?prot=RORA_HUMAN&from=174&to=334&var=E327A	ENST00000335670		ENSG00000069667	10258		48	2.545		HGNC	p.E327A		RORA		SNV							ENST00000261523	protein_coding	getma.org/?cm=var&var=hg19,15,60797768,T,G&fts=all		hmmpanther:PTHR24082:SF108,hmmpanther:PTHR24082,Superfamily_domains:SSF48508,Prints_domain:PR01293		E/A		G	medium	982/10844		getma.org/?cm=msa&ty=f&p=RORA_HUMAN&rb=174&re=334&var=E327A	deleterious(0.02)					RORA,missense_variant,p.Glu294Ala,ENST00000335670,NM_134261.2;RORA,missense_variant,p.Glu327Ala,ENST00000261523,NM_134260.2;RORA,missense_variant,p.Glu319Ala,ENST00000309157,NM_002943.3;RORA,missense_variant,p.Glu239Ala,ENST00000449337,NM_134262.2;RP11-219B17.1,intron_variant,,ENST00000558140,;RP11-219B17.1,intron_variant,,ENST00000501579,;RP11-219B17.1,intron_variant,,ENST00000559824,;RP11-219B17.1,intron_variant,,ENST00000558235,;RP11-219B17.1,upstream_gene_variant,,ENST00000559902,;RORA,downstream_gene_variant,,ENST00000559587,;							MODERATE	881/1572	E327A	RORA_HUMAN			Transcript		benign(0.309)	.	ENSP00000335087		CCDS10177.1			1	
CCNK	0	LGGM	GRCh37	14	99969281	99969281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	15	26	.	.	ENST00000389879.5:c.971C>A	p.Ser324Tyr	p.S324Y	ENST00000389879	NM_001099402.1	324	tCt/tAt	0	1	1	UPI00001FDB50	0	NA	ENST00000389879		ENSG00000090061	1596		41	1.61		HGNC	p.S324Y		CCNK		SNV							ENST00000555049	protein_coding	getma.org/?cm=var&var=hg19,14,99969281,C,A&fts=all		hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF51,Low_complexity_(Seg):seg		S/Y		A	low	1094/3524		getma.org/?cm=msa&ty=f&p=CCNK_HUMAN&rb=157&re=356&var=S324Y	deleterious(0)	G3V2Q3_HUMAN,G3V235_HUMAN			YES	CCNK,missense_variant,p.Ser324Tyr,ENST00000389879,NM_001099402.1;CCNK,missense_variant,p.Ser324Tyr,ENST00000555049,;CCNK,downstream_gene_variant,,ENST00000557441,;CCNK,downstream_gene_variant,,ENST00000557165,;CCNK,non_coding_transcript_exon_variant,,ENST00000553865,;CCNK,downstream_gene_variant,,ENST00000556641,;							MODERATE	971/1743	S324Y	CCNK_HUMAN			Transcript		benign(0.184)	.	ENSP00000374529		CCDS45160.1			1	
B3GNT1	0	LGGM	GRCh37	11	66113590	66113590	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	19	27	.	.	ENST00000311181.4:c.1178A>G	p.Asn393Ser	p.N393S	ENST00000311181	NM_006876.2	393	aAt/aGt	0	1	1	UPI00000358A1	0	NA	ENST00000311181		ENSG00000174684	15685		46	1.215		HGNC	p.N393S		B3GNT1		SNV			1				ENST00000311181	protein_coding	getma.org/?cm=var&var=hg19,11,66113590,T,C&fts=all		hmmpanther:PTHR12270:SF20,hmmpanther:PTHR12270,Pfam_domain:PF13896		N/S		C	low	1325/2072		getma.org/?cm=msa&ty=f&p=B3GN1_HUMAN&rb=94&re=409&var=N393S	deleterious(0)	B4DGI0_HUMAN			YES	B3GNT1,missense_variant,p.Asn393Ser,ENST00000311181,NM_006876.2;BRMS1,upstream_gene_variant,,ENST00000359957,NM_015399.3;BRMS1,upstream_gene_variant,,ENST00000425825,NM_001024957.1;BRMS1,upstream_gene_variant,,ENST00000524699,;BRMS1,upstream_gene_variant,,ENST00000530756,;RP11-867G23.8,upstream_gene_variant,,ENST00000531602,;RP11-867G23.8,upstream_gene_variant,,ENST00000580881,;RP11-867G23.8,upstream_gene_variant,,ENST00000581155,;BRMS1,upstream_gene_variant,,ENST00000530238,;BRMS1,upstream_gene_variant,,ENST00000527375,;BRMS1,upstream_gene_variant,,ENST00000534617,;BRMS1,upstream_gene_variant,,ENST00000525127,;BRMS1,upstream_gene_variant,,ENST00000529544,;							MODERATE	1178/1248	N393S	B3GN1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000309096		CCDS8136.1			1	
PUS3	0	LGGM	GRCh37	11	125765619	125765619	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	43	29	.	.	ENST00000227474.3:c.444A>T	p.Lys148Asn	p.K148N	ENST00000227474	NM_031307.3	148	aaA/aaT	0	1	1	UPI0000071F9E	0	getma.org/pdb.php?prot=PUS3_HUMAN&from=67&to=189&var=K148N	ENST00000227474		ENSG00000110060	25461		72	1.725		HGNC	p.K148N		PUS3		SNV							ENST00000530811	protein_coding	getma.org/?cm=var&var=hg19,11,125765619,T,A&fts=all		Superfamily_domains:SSF55120,Gene3D:1dj0A02,TIGRFAM_domain:TIGR00071,Pfam_domain:PF01416,hmmpanther:PTHR11142:SF5,hmmpanther:PTHR11142,HAMAP:MF_00171		K/N		A	low	542/1843		getma.org/?cm=msa&ty=f&p=PUS3_HUMAN&rb=67&re=189&var=K148N	tolerated(0.24)	E9PRI9_HUMAN,E9PNY6_HUMAN			YES	PUS3,missense_variant,p.Lys148Asn,ENST00000227474,NM_031307.3,NM_001271985.1;PUS3,missense_variant,p.Lys148Asn,ENST00000530811,;PUS3,missense_variant,p.Lys148Asn,ENST00000534158,;HYLS1,intron_variant,,ENST00000425380,NM_001134793.1;HYLS1,intron_variant,,ENST00000356438,NM_145014.2;HYLS1,intron_variant,,ENST00000526028,;PUS3,downstream_gene_variant,,ENST00000529801,;							MODERATE	444/1446	K148N	PUS3_HUMAN			Transcript		benign(0.071)	.	ENSP00000227474		CCDS8466.1			1	
OR10A3	0	LGGM	GRCh37	11	7960547	7960547	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	25	29	.	.	ENST00000360759.3:c.521T>C	p.Ile174Thr	p.I174T	ENST00000360759	NM_001003745.1	174	aTt/aCt	0	1	1	UPI00000015AD	0	NA	ENST00000360759		ENSG00000170683	8162		54	3.465		HGNC	p.I174T		OR10A3		SNV							ENST00000360759	protein_coding	getma.org/?cm=var&var=hg19,11,7960547,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321		I/T		G	medium	595/1061		getma.org/?cm=msa&ty=f&p=O10A3_HUMAN&rb=139&re=283&var=I174T	deleterious(0)				YES	OR10A3,missense_variant,p.Ile174Thr,ENST00000360759,NM_001003745.1;							MODERATE	521/945	I174T	O10A3_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000353988		CCDS31421.1			1	
ACTR2	0	LGGM	GRCh37	2	65467018	65467018	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	43	29	.	.	ENST00000377982.4:c.81T>G	p.Phe27Leu	p.F27L	ENST00000377982	NM_001005386.2	27	ttT/ttG	0	1		UPI0000003FCD	0	getma.org/pdb.php?prot=ARP2_HUMAN&from=3&to=391&var=F27L	ENST00000260641		ENSG00000138071	169		72	1.795		HGNC	p.F27L		ACTR2		SNV							ENST00000377982	protein_coding	getma.org/?cm=var&var=hg19,2,65467018,T,G&fts=all		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF149,Gene3D:3.30.420.40,Pfam_domain:PF00022,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190		F/L		G	low	238/3861		getma.org/?cm=msa&ty=f&p=ARP2_HUMAN&rb=3&re=391&var=F27L	tolerated(0.1)					ACTR2,missense_variant,p.Phe27Leu,ENST00000260641,NM_005722.3;ACTR2,missense_variant,p.Phe27Leu,ENST00000377982,NM_001005386.2;ACTR2,5_prime_UTR_variant,,ENST00000542850,;ACTR2,non_coding_transcript_exon_variant,,ENST00000476840,;ACTR2,non_coding_transcript_exon_variant,,ENST00000471552,;							MODERATE	81/1185	F27L	ARP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260641		CCDS1881.1			1	
TGM4	0	LGGM	GRCh37	3	44959404	44959404	+	downstream_gene_variant	3'Flank	SNP	C	C	G	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	27	31	.	.				ENST00000296125	NM_003241.3			0	1	1	UPI0000136CCD	0		ENST00000296125		ENSG00000163810	11780		58		2922	HGNC	p.E191Q		TGM4		SNV							ENST00000339420	protein_coding							G		-/3388				Q9UBL5_HUMAN			YES	ZDHHC3,missense_variant,p.Glu191Gln,ENST00000339420,;TGM4,downstream_gene_variant,,ENST00000296125,NM_003241.3;ZDHHC3,downstream_gene_variant,,ENST00000443879,;ZDHHC3,non_coding_transcript_exon_variant,,ENST00000466084,;							MODIFIER	-/2055		TGM4_HUMAN			Transcript			.	ENSP00000296125		CCDS2723.1			1	
CDH9	0	LGGM	GRCh37	5	26906920	26906920	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	24	31	.	.	ENST00000231021.4:c.551C>A	p.Thr184Lys	p.T184K	ENST00000231021	NM_016279.3	184	aCa/aAa	0	1	1	UPI000013C945	0	getma.org/pdb.php?prot=CADH9_HUMAN&from=164&to=259&var=T184K	ENST00000231021		ENSG00000113100	1768		55	1.96		HGNC	p.T184K		CDH9		SNV							ENST00000231021	protein_coding	getma.org/?cm=var&var=hg19,5,26906920,G,T&fts=all		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		T/K		T	medium	724/3079		getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=164&re=259&var=T184K	deleterious(0)	E7EPN0_HUMAN,D6RBT9_HUMAN			YES	CDH9,missense_variant,p.Thr184Lys,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;							MODERATE	551/2370	T184K	CADH9_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000231021		CCDS3893.1			1	
KIAA0586	0	LGGM	GRCh37	14	58909503	58909503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	44	32	.	.	ENST00000354386.6:c.649C>A	p.Gln217Lys	p.Q217K	ENST00000354386	NM_001244189.1	217	Cag/Aag	0	1	1	UPI0001AE6998	0	NA	ENST00000354386		ENSG00000100578	19960		76	2.045		HGNC	p.Q149K		KIAA0586		SNV							ENST00000556134	protein_coding	getma.org/?cm=var&var=hg19,14,58909503,C,A&fts=all		Pfam_domain:PF15324,hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2		Q/K		A	medium	893/5226		getma.org/?cm=msa&ty=f&p=G3V2T5_HUMAN&rb=1&re=200&var=Q79K	tolerated(0.08)				YES	KIAA0586,missense_variant,p.Gln120Lys,ENST00000423743,NM_001244192.1,NM_001244191.1;KIAA0586,missense_variant,p.Gln217Lys,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Gln149Lys,ENST00000556134,NM_001244190.1,NM_001244193.1;KIAA0586,missense_variant,p.Gln164Lys,ENST00000261244,NM_014749.3;KIAA0586,missense_variant,p.Gln79Lys,ENST00000555833,;KIAA0586,missense_variant,p.Gln79Lys,ENST00000554463,;Y_RNA,downstream_gene_variant,,ENST00000516389,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;KIAA0586,downstream_gene_variant,,ENST00000557192,;KIAA0586,3_prime_UTR_variant,,ENST00000555203,;KIAA0586,non_coding_transcript_exon_variant,,ENST00000557590,;							MODERATE	649/4935	Q79K	TALD3_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000346359		CCDS58320.1			1	
PAPPA2	0	LGGM	GRCh37	1	176525626	176525626	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	40	33	.	.	ENST00000367662.3:c.168T>C	p.Val56=	p.V56=	ENST00000367662	NM_020318.2	56	gtT/gtC	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		73			HGNC	p.V56V		PAPPA2		SNV							ENST00000367661	protein_coding					V		C		1332/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,synonymous_variant,p.=,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;							LOW	168/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
STXBP5	0	LGGM	GRCh37	6	147649844	147649844	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	34	34	.	.	ENST00000321680.6:c.2080+1432T>C		*694*	ENST00000321680	NM_001127715.2			0	1	1	UPI0000199FE0	0		ENST00000321680		ENSG00000164506	19665		68			HGNC	p.I29T		STXBP5		SNV							ENST00000392291	protein_coding							C		-/3456							YES	STXBP5,missense_variant,p.Ile29Thr,ENST00000392291,;STXBP5,intron_variant,,ENST00000367481,NM_139244.4;STXBP5,intron_variant,,ENST00000179882,;STXBP5,intron_variant,,ENST00000321680,NM_001127715.2;STXBP5,intron_variant,,ENST00000367480,;STXBP5,intron_variant,,ENST00000367475,;							MODIFIER	-/3456		STXB5_HUMAN			Transcript			.	ENSP00000321826		CCDS47499.1			1	
TTN	0	LGGM	GRCh37	2	179453636	179453636	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	40	42	.	.	ENST00000589042.1:c.62816G>A	p.Arg20939His	p.R20939H	ENST00000589042	NM_001267550.1	20939	cGt/cAt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=19225&to=19309&var=R19298H	ENST00000591111		ENSG00000155657	12403		82	2.755		HGNC	p.R11999H	rs777095470	TTN	6.08E-05	SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179453636,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/H		T	medium	58118/104301	4.59E-05	getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=19225&re=19309&var=R19298H		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg20939His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg19298His,ENST00000591111,;TTN,missense_variant,p.Arg18371His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg12066His,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg11999His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg11874His,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,;							MODERATE	57893/103053	R19298H	TITIN_HUMAN			Transcript			.	ENSP00000465570	3.31E-05				1	
PCLO	0	LGGM	GRCh37	7	82764282	82764282	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080217	H080217N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	53	43	.	.	ENST00000333891.9:c.2584A>C	p.Met862Leu	p.M862L	ENST00000333891	NM_033026.5	862	Atg/Ctg	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		96	0.69		HGNC	p.M862L		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82764282,T,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		M/L		G	neutral	2922/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=793&re=992&var=M808L					YES	PCLO,missense_variant,p.Met862Leu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Met862Leu,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000461143,;							MODERATE	2584/15429	M808L	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
FAM184B	0	LGGM	GRCh37	4	17706654	17706654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	35	45	.	.	ENST00000265018.3:c.1346C>T	p.Ser449Phe	p.S449F	ENST00000265018	NM_015688.1	449	tCc/tTc	0	1	1	UPI000020BD7C	0	NA	ENST00000265018		ENSG00000047662	29235		80	1.78		HGNC	p.S449F		FAM184B		SNV							ENST00000265018	protein_coding	getma.org/?cm=var&var=hg19,4,17706654,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870		S/F		A	low	1559/6622		getma.org/?cm=msa&ty=f&p=F184B_HUMAN&rb=115&re=602&var=S449F	tolerated(0.14)				YES	FAM184B,missense_variant,p.Ser449Phe,ENST00000265018,NM_015688.1;							MODERATE	1346/3183	S449F	F184B_HUMAN			Transcript		possibly_damaging(0.508)	.	ENSP00000265018		CCDS47033.1			1	
PCDHB17	0	LGGM	GRCh37	5	140536909	140536909	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	56	57	.	.	ENST00000539533.1:c.1333G>A	p.Val445Ile	p.V445I	ENST00000539533		445	Gtc/Atc	0	1	1	UPI000006CE19	0		ENST00000539533		ENSG00000255622			113			Uniprot_gn	p.V445I	COSM1062647,COSM1062648	PCDHB17		SNV						1,1	ENST00000539533	protein_coding			Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF90,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		V/I		A		1333/3063			tolerated_low_confidence(0.11)	Q96T98_HUMAN			YES	PCDHB17,missense_variant,p.Val445Ile,ENST00000539533,;PCDHB6,downstream_gene_variant,,ENST00000231136,NM_018939.2;PCDHB6,downstream_gene_variant,,ENST00000543635,;					1,1		MODERATE	1333/1764					Transcript		benign(0.153)	.	ENSP00000438685					1	
POM121	0	LGGM	GRCh37	7	72397446	72397446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	134	74	.	.	ENST00000395270.1:c.172A>G	p.Arg58Gly	p.R58G	ENST00000395270	NM_001257190.2	58	Agg/Ggg	0	1		UPI00017BE7A5	0	NA	ENST00000434423		ENSG00000196313	19702		208	0.82		HGNC	p.R58G		POM121		SNV							ENST00000395270	protein_coding	getma.org/?cm=var&var=hg19,7,72397446,A,G&fts=all		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5,Low_complexity_(Seg):seg		R/G		G	low	967/3750		getma.org/?cm=msa&ty=f&p=P121A_HUMAN&rb=1&re=559&var=R323G	deleterious(0)	A8MY32_HUMAN				POM121,missense_variant,p.Arg58Gly,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Arg58Gly,ENST00000257622,NM_172020.4;POM121,missense_variant,p.Arg58Gly,ENST00000358357,;POM121,missense_variant,p.Arg58Gly,ENST00000446813,;POM121,missense_variant,p.Arg323Gly,ENST00000434423,;RP11-313P13.5,upstream_gene_variant,,ENST00000608799,;							MODERATE	967/3750	R323G	P121A_HUMAN			Transcript		possibly_damaging(0.551)	.	ENSP00000405562					1	
LPHN3	0	LGGM	GRCh37	4	62845338	62845338	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080217	H080217N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	54	79	.	.	ENST00000514591.1:c.2659C>A	p.Leu887Met	p.L887M	ENST00000514591		887	Ctg/Atg	0	1	1	UPI00016278EF	0	NA	ENST00000514591		ENSG00000150471	20974		133	1.16		HGNC	p.L887M		LPHN3		SNV							ENST00000514157	protein_coding	getma.org/?cm=var&var=hg19,4,62845338,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249		L/M		A	low	2988/6297		getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=861&re=1097&var=L874M	deleterious(0)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Leu887Met,ENST00000512091,;LPHN3,missense_variant,p.Leu887Met,ENST00000514591,;LPHN3,missense_variant,p.Leu887Met,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Leu955Met,ENST00000509896,;LPHN3,missense_variant,p.Leu955Met,ENST00000511324,;LPHN3,missense_variant,p.Leu955Met,ENST00000508693,;LPHN3,missense_variant,p.Leu955Met,ENST00000507164,;LPHN3,missense_variant,p.Leu955Met,ENST00000506720,;LPHN3,missense_variant,p.Leu955Met,ENST00000506746,;LPHN3,missense_variant,p.Leu955Met,ENST00000507625,;LPHN3,missense_variant,p.Leu887Met,ENST00000506700,;LPHN3,missense_variant,p.Leu887Met,ENST00000504896,;LPHN3,missense_variant,p.Leu887Met,ENST00000514157,;LPHN3,missense_variant,p.Leu887Met,ENST00000508946,;LPHN3,missense_variant,p.Leu887Met,ENST00000514996,;LPHN3,missense_variant,p.Leu345Met,ENST00000502815,;							MODERATE	2659/4410	L874M				Transcript		probably_damaging(0.996)	.	ENSP00000422533		CCDS54768.1			1	
ZNF225	0	LGGM	GRCh37	19	44622394	44622394	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080217	H080217N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	75	87	.	.	ENST00000262894.6:c.69G>T	p.Arg23Ser	p.R23S	ENST00000262894	NM_013362.2	23	agG/agT	0	1	1	UPI000016960F	0	getma.org/pdb.php?prot=ZN225_HUMAN&from=8&to=48&var=R23S	ENST00000262894		ENSG00000256294	13018		162	1.555		HGNC	p.R23S		ZNF225		SNV							ENST00000588926	protein_coding	getma.org/?cm=var&var=hg19,19,44622394,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		R/S		T	low	349/2495		getma.org/?cm=msa&ty=f&p=ZN225_HUMAN&rb=8&re=48&var=R23S	deleterious(0.01)	K7ERU6_HUMAN,K7ENA2_HUMAN			YES	ZNF225,missense_variant,p.Arg23Ser,ENST00000592780,;ZNF225,missense_variant,p.Arg23Ser,ENST00000262894,NM_013362.2;ZNF225,missense_variant,p.Arg23Ser,ENST00000590612,;ZNF225,missense_variant,p.Arg23Ser,ENST00000589155,;ZNF225,missense_variant,p.Arg23Ser,ENST00000588926,;							MODERATE	69/2121	R23S	ZN225_HUMAN			Transcript		benign(0.03)	.	ENSP00000262894		CCDS46100.1			1	
PRSS1	0	LGGM	GRCh37	7	142460297	142460297	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080217	H080217N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080217N.bam, H080217T.bam	Illumina HiSeq	244	113	.	.	ENST00000311737.7:c.470A>C	p.Glu157Ala	p.E157A	ENST00000311737	NM_002769.4	157	gAg/gCg	0	1	1	UPI0000001309	0	getma.org/pdb.php?prot=TRY1_HUMAN&from=24&to=239&var=E157A	ENST00000311737		ENSG00000204983	9475		357	0.48		HGNC	p.E157A		PRSS1		SNV			1				ENST00000311737	protein_coding	getma.org/?cm=var&var=hg19,7,142460297,A,C&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF12,SMART_domains:SM00020,Superfamily_domains:SSF50494		E/A		C	neutral	476/800		getma.org/?cm=msa&ty=f&p=TRY1_HUMAN&rb=24&re=239&var=E157A	tolerated(0.76)	Q7Z445_HUMAN,Q53ZV8_HUMAN,H0Y8D1_HUMAN,A6XGL3_HUMAN			YES	PRSS1,missense_variant,p.Glu171Ala,ENST00000486171,;PRSS1,missense_variant,p.Glu157Ala,ENST00000311737,NM_002769.4;PRSS1,missense_variant,p.Glu107Ala,ENST00000492062,;PRSS1,non_coding_transcript_exon_variant,,ENST00000463701,;PRSS1,downstream_gene_variant,,ENST00000485223,;PRSS1,downstream_gene_variant,,ENST00000497041,;							MODERATE	470/744	E157A	TRY1_HUMAN			Transcript		benign(0.01)	.	ENSP00000308720		CCDS5872.1			1	
MARVELD1	0	LGGM	GRCh37	10	99473778	99473778	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	7	2	.	.	ENST00000285605.6:c.145A>G	p.Ile49Val	p.I49V	ENST00000285605	NM_031484.3	49	Atc/Gtc	0	1	1	UPI000006FAD7	0	NA	ENST00000285605		ENSG00000155254	28674		9	1.545		HGNC	p.I49V		MARVELD1		SNV							ENST00000285605	protein_coding	getma.org/?cm=var&var=hg19,10,99473778,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF28,Pfam_domain:PF01284		I/V		G	low	298/3219		getma.org/?cm=msa&ty=f&p=MALD1_HUMAN&rb=26&re=160&var=I49V	tolerated(0.26)				YES	MARVELD1,missense_variant,p.Ile49Val,ENST00000285605,NM_031484.3;MARVELD1,intron_variant,,ENST00000434038,;MARVELD1,intron_variant,,ENST00000451097,;MARVELD1,upstream_gene_variant,,ENST00000421644,;							MODERATE	145/522	I49V	MALD1_HUMAN			Transcript		benign(0.176)	.	ENSP00000441365					1	
GPRC5B	0	LGGM	GRCh37	16	19883757	19883757	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	2	2	.	.	ENST00000300571.2:c.411C>T	p.Phe137=	p.F137=	ENST00000300571	NM_016235.1	137	ttC/ttT	0	1	1	UPI0000032747	0		ENST00000300571		ENSG00000167191	13308		4			HGNC	p.F137F		GPRC5B		SNV							ENST00000569479	protein_coding			Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF9,Transmembrane_helices:TMhelix		F		A		603/4610				H3BT93_HUMAN,H3BT47_HUMAN,H3BSJ1_HUMAN,H3BQV9_HUMAN,H3BN33_HUMAN			YES	GPRC5B,synonymous_variant,p.=,ENST00000300571,NM_016235.1;GPRC5B,synonymous_variant,p.=,ENST00000569479,;GPRC5B,synonymous_variant,p.=,ENST00000569847,;GPRC5B,synonymous_variant,p.=,ENST00000537135,;GPRC5B,synonymous_variant,p.=,ENST00000535671,;GPRC5B,synonymous_variant,p.=,ENST00000562469,;GPRC5B,synonymous_variant,p.=,ENST00000566822,;GPRC5B,downstream_gene_variant,,ENST00000564449,;GPRC5B,downstream_gene_variant,,ENST00000568214,;GPRC5B,downstream_gene_variant,,ENST00000570142,;							LOW	411/1212		GPC5B_HUMAN			Transcript			.	ENSP00000300571		CCDS10581.1			1	
NMU	0	LGGM	GRCh37	4	56465307	56465307	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	11	3	.	.	ENST00000264218.3:c.*4+2T>A		p.X2_splice	ENST00000264218	NM_006681.2			0	1	1	UPI000012FF95	0		ENST00000264218		ENSG00000109255	7859		14			HGNC	-		NMU		SNV							ENST00000511469	protein_coding							T		-/816							YES	NMU,splice_donor_variant,,ENST00000264218,NM_006681.2;NMU,splice_donor_variant,,ENST00000511469,;NMU,splice_donor_variant,,ENST00000505262,;NMU,splice_donor_variant,,ENST00000507338,;NMU,splice_donor_variant,,ENST00000515325,;NMU,downstream_gene_variant,,ENST00000509371,;							HIGH	-/525		NMU_HUMAN			Transcript			.	ENSP00000264218		CCDS3501.1			1	
ZFHX2	0	LGGM	GRCh37	14	23993576	23993576	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	6	3	.	.	ENST00000419474.3:c.5575C>T	p.Arg1859Cys	p.R1859C	ENST00000419474	NM_033400.2	1859	Cgc/Tgc	0	1	1	UPI000198D01B	0	getma.org/pdb.php?prot=ZFHX2_HUMAN&from=1858&to=1914&var=R1859C	ENST00000419474		ENSG00000136367	20152		9	4.21		HGNC	p.R1859C		ZFHX2		SNV							ENST00000419474	protein_coding	getma.org/?cm=var&var=hg19,14,23993576,G,A&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF86,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689		R/C		A	high	5931/9180		getma.org/?cm=msa&ty=f&p=ZFHX2_HUMAN&rb=1858&re=1914&var=R1859C		G3V3N5_HUMAN,C9JSX6_HUMAN			YES	ZFHX2,missense_variant,p.Arg1859Cys,ENST00000419474,NM_033400.2;RP11-66N24.4,intron_variant,,ENST00000554403,;RP11-66N24.4,intron_variant,,ENST00000553985,;RP11-66N24.4,intron_variant,,ENST00000556354,;ZFHX2,upstream_gene_variant,,ENST00000606808,;							MODERATE	5575/7719	R1859C	ZFHX2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000413418		CCDS55907.1			1	
DHRS13	0	LGGM	GRCh37	17	27225663	27225663	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	3	.	.	ENST00000378895.4:c.930G>T	p.Leu310=	p.L310=	ENST00000378895	NM_144683.3	310	ctG/ctT	0	1	1	UPI00001D6289	0		ENST00000378895		ENSG00000167536	28326		15			HGNC	p.L260L		DHRS13		SNV							ENST00000394901	protein_coding			hmmpanther:PTHR24320:SF53,hmmpanther:PTHR24320,Superfamily_domains:SSF51735		L		A		1057/1921							YES	DHRS13,synonymous_variant,p.=,ENST00000394901,;DHRS13,synonymous_variant,p.=,ENST00000378895,NM_144683.3;DHRS13,synonymous_variant,p.=,ENST00000426464,;FLOT2,upstream_gene_variant,,ENST00000394906,;FLOT2,upstream_gene_variant,,ENST00000394908,NM_004475.2;FLOT2,upstream_gene_variant,,ENST00000585169,;RP11-20B24.4,non_coding_transcript_exon_variant,,ENST00000579187,;RP11-20B24.4,intron_variant,,ENST00000580603,;FLOT2,upstream_gene_variant,,ENST00000577789,;DHRS13,downstream_gene_variant,,ENST00000581974,;FLOT2,upstream_gene_variant,,ENST00000580805,;FLOT2,upstream_gene_variant,,ENST00000586827,;DHRS13,downstream_gene_variant,,ENST00000581759,;FLOT2,upstream_gene_variant,,ENST00000593158,;FLOT2,upstream_gene_variant,,ENST00000582174,;							LOW	930/1134		DHR13_HUMAN			Transcript			.	ENSP00000368173		CCDS11246.2			1	
APOO	0	LGGM	GRCh37	X	23892562	23892562	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	47	3	.	.	ENST00000379226.4:c.250C>A	p.Gln84Lys	p.Q84K	ENST00000379226	NM_024122.4	84	Caa/Aaa	0	1	1	UPI0000035987	0	NA	ENST00000379226		ENSG00000184831	28727		50	-0.28		HGNC	p.Q84K		APOO		SNV							ENST00000379226	protein_coding	getma.org/?cm=var&var=hg19,X,23892562,G,T&fts=all		hmmpanther:PTHR14564,hmmpanther:PTHR14564:SF2,Pfam_domain:PF09769		Q/K		T	neutral	482/1118		getma.org/?cm=msa&ty=f&p=APOO_HUMAN&rb=25&re=178&var=Q84K	tolerated(1)	H7C1U8_HUMAN			YES	APOO,missense_variant,p.Gln84Lys,ENST00000379226,NM_024122.4;APOO,missense_variant,p.Gln64Lys,ENST00000439528,;APOO,intron_variant,,ENST00000379220,;APOO,intron_variant,,ENST00000490078,;							MODERATE	250/597	Q84K	APOO_HUMAN			Transcript		benign(0.005)	.	ENSP00000368528		CCDS14208.1			1	
UBE2S	0	LGGM	GRCh37	19	55912882	55912882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	25	3	.	.	ENST00000264552.9:c.591G>T	p.Lys197Asn	p.K197N	ENST00000264552	NM_014501.2	197	aaG/aaT	0	1	1	UPI000000122B	0	NA	ENST00000264552		ENSG00000108106	17895		28	0.895		HGNC	p.K197N		UBE2S		SNV							ENST00000264552	protein_coding	getma.org/?cm=var&var=hg19,19,55912882,C,A&fts=all				K/N		A	low	779/1009		getma.org/?cm=msa&ty=f&p=UBE2S_HUMAN&rb=163&re=220&var=K197N	deleterious(0.04)				YES	UBE2S,missense_variant,p.Lys197Asn,ENST00000264552,NM_014501.2;RPL28,intron_variant,,ENST00000560055,;UBE2S,downstream_gene_variant,,ENST00000587845,;UBE2S,downstream_gene_variant,,ENST00000589978,;CTD-2105E13.13,upstream_gene_variant,,ENST00000589101,;UBE2S,downstream_gene_variant,,ENST00000592570,;							MODERATE	591/669	K197N	UBE2S_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000264552		CCDS33114.1			1	
DGKZ	0	LGGM	GRCh37	11	46391554	46391554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	40	3	.	.	ENST00000454345.1:c.1129G>T	p.Gly377Trp	p.G377W	ENST00000454345	NM_001105540.1	377	Ggg/Tgg	0	1	1	UPI000013DB71	0	NA	ENST00000454345		ENSG00000149091	2857		43	2.16		HGNC	p.G189W		DGKZ		SNV							ENST00000421244	protein_coding	getma.org/?cm=var&var=hg19,11,46391554,G,T&fts=all		hmmpanther:PTHR11255:SF43,hmmpanther:PTHR11255,Pfam_domain:PF00130,SMART_domains:SM00109		G/W		T	medium	1254/4086		getma.org/?cm=msa&ty=f&p=DGKZ_HUMAN&rb=361&re=420&var=G377W	deleterious(0)	Q7Z5X8_HUMAN,E9PNL8_HUMAN			YES	DGKZ,missense_variant,p.Gly377Trp,ENST00000454345,NM_001105540.1;DGKZ,missense_variant,p.Gly205Trp,ENST00000343674,NM_201532.2;DGKZ,missense_variant,p.Gly188Trp,ENST00000456247,NM_003646.3,NM_001199267.1;DGKZ,missense_variant,p.Gly155Trp,ENST00000395574,NM_201533.3;DGKZ,missense_variant,p.Gly189Trp,ENST00000527911,NM_001199266.1;DGKZ,missense_variant,p.Gly193Trp,ENST00000532868,;DGKZ,missense_variant,p.Gly189Trp,ENST00000421244,;DGKZ,missense_variant,p.Gly73Trp,ENST00000524448,;DGKZ,5_prime_UTR_variant,,ENST00000528615,;DGKZ,intron_variant,,ENST00000318201,NM_001199268.1;DGKZ,intron_variant,,ENST00000543978,;DGKZ,upstream_gene_variant,,ENST00000524869,;DGKZ,downstream_gene_variant,,ENST00000525242,;DGKZ,downstream_gene_variant,,ENST00000525434,;DGKZ,downstream_gene_variant,,ENST00000534215,;DGKZ,3_prime_UTR_variant,,ENST00000524984,;DGKZ,3_prime_UTR_variant,,ENST00000533376,;DGKZ,non_coding_transcript_exon_variant,,ENST00000528173,;DGKZ,intron_variant,,ENST00000531879,;DGKZ,downstream_gene_variant,,ENST00000527674,;DGKZ,upstream_gene_variant,,ENST00000527903,;							MODERATE	1129/3354	G377W	DGKZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412178		CCDS41640.1			1	
OLR1	0	LGGM	GRCh37	12	10324651	10324651	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	3	.	.	ENST00000309539.3:c.26A>T	p.Gln9Leu	p.Q9L	ENST00000309539	NM_002543.3	9	cAg/cTg	0	1	1	UPI000004A917	0	NA	ENST00000309539		ENSG00000173391	8133		13	0		HGNC	p.Q9L		OLR1		SNV							ENST00000432556	protein_coding	getma.org/?cm=var&var=hg19,12,10324651,T,A&fts=all		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF146		Q/L		A	neutral	87/2460		getma.org/?cm=msa&ty=f&p=OLR1_HUMAN&rb=1&re=119&var=Q9L	deleterious(0.01)	J3QTI8_HUMAN,F5H7N8_HUMAN,F5H3G7_HUMAN,F5H0N6_HUMAN,F5H001_HUMAN			YES	OLR1,missense_variant,p.Gln9Leu,ENST00000309539,NM_002543.3;OLR1,missense_variant,p.Gln9Leu,ENST00000545927,NM_001172633.1;OLR1,missense_variant,p.Gln9Leu,ENST00000432556,NM_001172632.1;OLR1,missense_variant,p.Gln9Leu,ENST00000544577,;TMEM52B,intron_variant,,ENST00000381923,NM_001079815.1;OLR1,upstream_gene_variant,,ENST00000543993,;OLR1,upstream_gene_variant,,ENST00000539518,;OLR1,upstream_gene_variant,,ENST00000339968,;OLR1,upstream_gene_variant,,ENST00000538745,;OLR1,upstream_gene_variant,,ENST00000538873,;OLR1,upstream_gene_variant,,ENST00000543414,;TMEM52B,intron_variant,,ENST00000545924,;TMEM52B,intron_variant,,ENST00000334148,;							MODERATE	26/822	Q9L	OLR1_HUMAN			Transcript		benign(0.023)	.	ENSP00000309124		CCDS8618.1			1	
IFT140	0	LGGM	GRCh37	16	1573563	1573563	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	9	3	.	.	ENST00000426508.2:c.3409A>T	p.Ser1137Cys	p.S1137C	ENST00000426508	NM_014714.3	1137	Agt/Tgt	0	1	1	UPI0000073C64	0	NA	ENST00000426508		ENSG00000187535	29077		12	1.1		HGNC	p.S1137C		IFT140		SNV			1				ENST00000426508	protein_coding	getma.org/?cm=var&var=hg19,16,1573563,T,A&fts=all		hmmpanther:PTHR15722		S/C		A	low	3773/5270		getma.org/?cm=msa&ty=f&p=IF140_HUMAN&rb=1132&re=1331&var=S1137C	deleterious(0.02)	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN			YES	IFT140,missense_variant,p.Ser1137Cys,ENST00000426508,NM_014714.3;IFT140,missense_variant,p.Ser331Cys,ENST00000361339,;IFT140,upstream_gene_variant,,ENST00000568837,;IFT140,3_prime_UTR_variant,,ENST00000397417,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;IFT140,downstream_gene_variant,,ENST00000566818,;							MODERATE	3409/4389	S1137C	IF140_HUMAN			Transcript		benign(0.345)	.	ENSP00000406012		CCDS10439.1			1	
MMD2	0	LGGM	GRCh37	7	4947175	4947175	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	42	3	.	.	ENST00000404774.3:c.665G>A	p.Gly222Asp	p.G222D	ENST00000404774	NM_001100600.1	222	gGc/gAc	0	1	1	UPI000016199F	0	NA	ENST00000404774		ENSG00000136297	30133		45	3.625		HGNC	p.G222D	rs751932046	MMD2	6.06E-05	SNV							ENST00000404774	protein_coding	getma.org/?cm=var&var=hg19,7,4947175,C,T&fts=all		Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF21,Transmembrane_helices:TMhelix		G/D		T	high	860/2415	1.50E-05	getma.org/?cm=msa&ty=f&p=PAQRA_HUMAN&rb=30&re=251&var=G222D	deleterious(0)				YES	MMD2,missense_variant,p.Gly222Asp,ENST00000404774,NM_001100600.1;MMD2,missense_variant,p.Gly198Asp,ENST00000401401,NM_198403.3;MMD2,3_prime_UTR_variant,,ENST00000406755,NM_001270375.1;							MODERATE	665/813	G222D	PAQRA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384690	1.65E-05	CCDS47529.1			1	
GNPTAB	0	LGGM	GRCh37	12	102158516	102158516	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	46	3	.	.	ENST00000299314.7:c.2179G>T	p.Gly727Ter	p.G727*	ENST00000299314	NM_024312.4	727	Gga/Tga	0	1	1	UPI000004CC0C	0	NA	ENST00000299314		ENSG00000111670	29670		49	0		HGNC	p.G727X		GNPTAB		SNV			1				ENST00000299314	protein_coding	getma.org/?cm=var&var=hg19,12,102158516,C,A&fts=all		Pfam_domain:PF06464,hmmpanther:PTHR24045:SF0,hmmpanther:PTHR24045		G/*		A	NA	2442/5701		NA		Q9NV34_HUMAN,Q68CM9_HUMAN,F8VQW2_HUMAN			YES	GNPTAB,stop_gained,p.Gly727Ter,ENST00000299314,NM_024312.4;GNPTAB,downstream_gene_variant,,ENST00000549940,;GNPTAB,upstream_gene_variant,,ENST00000550718,;RNU6-101P,downstream_gene_variant,,ENST00000410323,;GNPTAB,downstream_gene_variant,,ENST00000552009,;GNPTAB,upstream_gene_variant,,ENST00000549194,;							HIGH	2179/3771	G727*	GNPTA_HUMAN			Transcript			.	ENSP00000299314		CCDS9088.1			1	
EMR2	0	LGGM	GRCh37	19	14877131	14877131	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	43	3	.	.	ENST00000315576.3:c.550G>T	p.Val184Leu	p.V184L	ENST00000315576	NM_013447.3	184	Gtg/Ttg	0	1	1	UPI000016393A	0	getma.org/pdb.php?prot=EMR2_HUMAN&from=163&to=210&var=V184L	ENST00000315576		ENSG00000127507	3337		46	0.665		HGNC	p.V184L		EMR2		SNV							ENST00000596991	protein_coding	getma.org/?cm=var&var=hg19,19,14877131,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF179,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		V/L		A	neutral	1002/6767		getma.org/?cm=msa&ty=f&p=EMR2_HUMAN&rb=163&re=210&var=V184L	tolerated(0.44)				YES	EMR2,missense_variant,p.Val184Leu,ENST00000315576,NM_013447.3;EMR2,missense_variant,p.Val184Leu,ENST00000392967,;EMR2,missense_variant,p.Val184Leu,ENST00000601345,;EMR2,missense_variant,p.Val184Leu,ENST00000596991,;EMR2,missense_variant,p.Val184Leu,ENST00000392965,NM_001271052.1;EMR2,intron_variant,,ENST00000346057,;EMR2,intron_variant,,ENST00000353876,;EMR2,intron_variant,,ENST00000353005,;EMR2,intron_variant,,ENST00000594294,;EMR2,intron_variant,,ENST00000594076,;EMR2,intron_variant,,ENST00000595839,;EMR2,intron_variant,,ENST00000392964,;EMR2,downstream_gene_variant,,ENST00000599423,;EMR2,downstream_gene_variant,,ENST00000601619,;EMR2,non_coding_transcript_exon_variant,,ENST00000360222,;EMR2,intron_variant,,ENST00000595208,;EMR2,intron_variant,,ENST00000392962,;							MODERATE	550/2472	V184L	EMR2_HUMAN			Transcript		benign(0.019)	.	ENSP00000319883		CCDS32935.1			1	
ZNF782	0	LGGM	GRCh37	9	99581054	99581054	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	47	3	.	.	ENST00000481138.1:c.1251G>T	p.Thr417=	p.T417=	ENST00000481138	NM_001001662.1	417	acG/acT	0	1	1	UPI00001D76E3	0		ENST00000481138		ENSG00000196597	33110		50			HGNC	p.T285T		ZNF782		SNV							ENST00000535338	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF111,Superfamily_domains:SSF57667		T		A		1913/4213				G3V1K9_HUMAN,C9J9Y8_HUMAN			YES	ZNF782,synonymous_variant,p.=,ENST00000481138,NM_001001662.1;ZNF782,synonymous_variant,p.=,ENST00000535338,;ZNF782,synonymous_variant,p.=,ENST00000289032,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,;							LOW	1251/2100		ZN782_HUMAN			Transcript			.	ENSP00000419397		CCDS35075.1			1	
C3AR1	0	LGGM	GRCh37	12	8211475	8211475	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	39	3	.	.	ENST00000307637.4:c.1307C>T	p.Ala436Val	p.A436V	ENST00000307637	NM_004054.2	436	gCc/gTc	0	1	1	UPI0000001066	0	NA	ENST00000307637		ENSG00000171860	1319		42	0.325		HGNC	p.A436V		C3AR1		SNV							ENST00000307637	protein_coding	getma.org/?cm=var&var=hg19,12,8211475,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24225:SF4,hmmpanther:PTHR24225,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01104,Prints_domain:PR00237		A/V		A	neutral	1511/2088		getma.org/?cm=msa&ty=f&p=C3AR_HUMAN&rb=436&re=482&var=A436V	tolerated(0.36)	F5GZE6_HUMAN,A8K2H7_HUMAN			YES	C3AR1,missense_variant,p.Ala436Val,ENST00000307637,NM_004054.2;FOXJ2,downstream_gene_variant,,ENST00000162391,NM_018416.2;C3AR1,downstream_gene_variant,,ENST00000546241,;							MODERATE	1307/1449	A436V	C3AR_HUMAN			Transcript		possibly_damaging(0.471)	.	ENSP00000302079		CCDS8588.1			1	
VLDLR	0	LGGM	GRCh37	9	2648771	2648771	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	44	3	.	.	ENST00000382100.3:c.2065C>A	p.Gln689Lys	p.Q689K	ENST00000382100	NM_003383.3	689	Caa/Aaa	0	1	1	UPI0000055935	0	getma.org/pdb.php?prot=VLDLR_HUMAN&from=655&to=695&var=Q689K	ENST00000382100		ENSG00000147852	12698		47	1.355		HGNC	p.Q689K		VLDLR		SNV			1				ENST00000382099	protein_coding	getma.org/?cm=var&var=hg19,9,2648771,C,A&fts=all		Superfamily_domains:SSF63825,Gene3D:2.120.10.30,Pfam_domain:PF00058,hmmpanther:PTHR10529:SF101,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		Q/K		A	low	2421/9163		getma.org/?cm=msa&ty=f&p=VLDLR_HUMAN&rb=655&re=695&var=Q689K	tolerated(0.09)				YES	VLDLR,missense_variant,p.Gln689Lys,ENST00000382100,NM_003383.3;VLDLR,missense_variant,p.Gln689Lys,ENST00000382099,NM_001018056.1;VLDLR,downstream_gene_variant,,ENST00000478776,;							MODERATE	2065/2622	Q689K	VLDLR_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000371532		CCDS6446.1			1	
TRIM35	0	LGGM	GRCh37	8	27151618	27151618	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	14	3	.	.	ENST00000305364.4:c.741G>T	p.Glu247Asp	p.E247D	ENST00000305364	NM_171982.3	247	gaG/gaT	0	1	1	UPI00001649FB	0	NA	ENST00000305364		ENSG00000104228	16285		17	1.79		HGNC	p.E215D		TRIM35		SNV							ENST00000521253	protein_coding	getma.org/?cm=var&var=hg19,8,27151618,C,A&fts=all		hmmpanther:PTHR24103:SF213,hmmpanther:PTHR24103		E/D		A	low	825/4229		getma.org/?cm=msa&ty=f&p=TRI35_HUMAN&rb=138&re=303&var=E247D	tolerated(0.21)				YES	TRIM35,missense_variant,p.Glu247Asp,ENST00000305364,NM_171982.3;TRIM35,missense_variant,p.Glu215Asp,ENST00000521253,;TRIM35,missense_variant,p.Glu12Asp,ENST00000521283,;TRIM35,non_coding_transcript_exon_variant,,ENST00000519219,;							MODERATE	741/1482	E247D	TRI35_HUMAN			Transcript		benign(0.105)	.	ENSP00000301924		CCDS6056.2			1	
KRT86	0	LGGM	GRCh37	12	52699480	52699480	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	19	3	.	.	ENST00000293525.5:c.934G>T	p.Gly312Trp	p.G312W	ENST00000293525	NM_002284.3	312	Ggg/Tgg	0	1	1	UPI000006E57E	0	getma.org/pdb.php?prot=KRT86_HUMAN&from=105&to=416&var=G312W	ENST00000293525		ENSG00000170442	6463		22	3.765		HGNC	p.G312W		KRT86		SNV			1				ENST00000423955	protein_coding	getma.org/?cm=var&var=hg19,12,52699480,G,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038,Prints_domain:PR01276		G/W		T	high	986/2091		getma.org/?cm=msa&ty=f&p=KRT86_HUMAN&rb=105&re=416&var=G312W	deleterious(0)	U3KPR1_HUMAN,Q9NSB0_HUMAN,Q8NFV1_HUMAN,Q8N120_HUMAN			YES	KRT86,missense_variant,p.Gly312Trp,ENST00000293525,NM_002284.3;KRT86,missense_variant,p.Gly312Trp,ENST00000544024,;KRT86,missense_variant,p.Gly312Trp,ENST00000423955,;KRT86,downstream_gene_variant,,ENST00000553310,;RP11-845M18.6,downstream_gene_variant,,ENST00000552441,;							MODERATE	934/1461	G312W	KRT86_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000293525		CCDS41785.1			1	
GOLPH3L	0	LGGM	GRCh37	1	150621026	150621026	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	34	3	.	.	ENST00000271732.3:c.629G>T	p.Arg210Leu	p.R210L	ENST00000271732	NM_018178.5	210	cGg/cTg	0	1	1	UPI0000034E13	0	getma.org/pdb.php?prot=GLP3L_HUMAN&from=48&to=281&var=R210L	ENST00000271732		ENSG00000143457	24882		37	2.705		HGNC	p.R232L		GOLPH3L		SNV							ENST00000427665	protein_coding	getma.org/?cm=var&var=hg19,1,150621026,C,A&fts=all		Gene3D:2zihB00,Pfam_domain:PF05719,hmmpanther:PTHR12704,hmmpanther:PTHR12704:SF4		R/L		A	medium	674/2999		getma.org/?cm=msa&ty=f&p=GLP3L_HUMAN&rb=48&re=281&var=R210L	deleterious(0)				YES	GOLPH3L,missense_variant,p.Arg210Leu,ENST00000271732,NM_018178.5;GOLPH3L,missense_variant,p.Arg166Leu,ENST00000540514,;GOLPH3L,missense_variant,p.Arg232Leu,ENST00000427665,;							MODERATE	629/858	R210L	GLP3L_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000271732		CCDS966.1			1	
RAD50	0	LGGM	GRCh37	5	131973915	131973915	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	29	3	.	.	ENST00000265335.6:c.3618G>T	p.Lys1206Asn	p.K1206N	ENST00000265335		1206	aaG/aaT	0	1		UPI000006F2C4	0	NA	ENST00000378823		ENSG00000113522	9816		32	3.055		HGNC	p.K1206N		RAD50		SNV			1				ENST00000265335	protein_coding	getma.org/?cm=var&var=hg19,5,131973915,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF13558,hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00606		K/N		T	medium	4019/6597		getma.org/?cm=msa&ty=f&p=RAD50_HUMAN&rb=1173&re=1251&var=K1206N	deleterious(0)					RAD50,missense_variant,p.Lys1067Asn,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Lys1206Asn,ENST00000265335,;RAD50,missense_variant,p.Lys85Asn,ENST00000455677,;AC004041.2,non_coding_transcript_exon_variant,,ENST00000435042,;AC004041.2,non_coding_transcript_exon_variant,,ENST00000457489,;AC004041.2,non_coding_transcript_exon_variant,,ENST00000458509,;AC004041.2,non_coding_transcript_exon_variant,,ENST00000417516,;RAD50,splice_region_variant,,ENST00000533482,;							MODERATE	3201/3522	K1206N	RAD50_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368100					1	
CYP4F2	0	LGGM	GRCh37	19	15989623	15989623	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	17	3	.	.	ENST00000221700.6:c.1521C>T	p.Arg507=	p.R507=	ENST00000221700	NM_001082.3	507	cgC/cgT	0	1	1	UPI0000052BE6	0		ENST00000221700		ENSG00000186115	2645		20			HGNC	p.R507R	rs567783827	CYP4F2		SNV			1				ENST00000592328	protein_coding		A:0	Gene3D:1.10.630.10,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF45,Superfamily_domains:SSF48264		R		A		1617/2407				K7EK90_HUMAN	A:0	A:0.001	YES	CYP4F2,synonymous_variant,p.=,ENST00000221700,NM_001082.3;CYP4F2,3_prime_UTR_variant,,ENST00000589654,;CYP4F2,non_coding_transcript_exon_variant,,ENST00000392846,;CYP4F2,downstream_gene_variant,,ENST00000587671,;CYP4F2,downstream_gene_variant,,ENST00000592710,;	0.000118	A:0.0002					LOW	1521/1563		CP4F2_HUMAN		A:0	Transcript			.	ENSP00000221700	8.24E-06	CCDS12336.1		A:0	1	
TMEM59L	0	LGGM	GRCh37	19	18726842	18726842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	39	3	.	.	ENST00000600490.1:c.466C>A	p.Leu156Ile	p.L156I	ENST00000600490		156	Ctc/Atc	0	1		UPI0000034024	0	NA	ENST00000262817		ENSG00000105696	13237		42	0.95		HGNC	p.L156I		TMEM59L		SNV							ENST00000262817	protein_coding	getma.org/?cm=var&var=hg19,19,18726842,C,A&fts=all		Pfam_domain:PF12280		L/I		A	low	553/1611		getma.org/?cm=msa&ty=f&p=TM59L_HUMAN&rb=79&re=284&var=L156I	tolerated(0.11)					TMEM59L,missense_variant,p.Leu156Ile,ENST00000600490,;TMEM59L,missense_variant,p.Leu156Ile,ENST00000262817,NM_012109.2;TMEM59L,missense_variant,p.Leu20Ile,ENST00000594709,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000598660,;TMEM59L,non_coding_transcript_exon_variant,,ENST00000594859,;							MODERATE	466/1029	L156I	TM59L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262817		CCDS12383.1			1	
ZNF33A	0	LGGM	GRCh37	10	38343457	38343457	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	40	3	.	.	ENST00000374618.3:c.405C>A	p.Ser135=	p.S135=	ENST00000374618	NM_001278178.1	135	tcC/tcA	0	1		UPI000000D888	0		ENST00000458705		ENSG00000189180	13096		43			HGNC	p.S135S		ZNF33A		SNV							ENST00000374618	protein_coding			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204		S		A		560/6084								ZNF33A,synonymous_variant,p.=,ENST00000374618,NM_001278178.1,NM_001278177.1,NM_001278174.1,NM_001278173.1,NM_001278176.1,NM_001278175.1,NM_001278179.1,NM_001278171.1,NM_006954.1,NM_006974.2;ZNF33A,synonymous_variant,p.=,ENST00000458705,;ZNF33A,synonymous_variant,p.=,ENST00000432900,NM_001278170.1;ZNF33A,synonymous_variant,p.=,ENST00000307441,;ZNF33A,intron_variant,,ENST00000469037,;ZNF33A,non_coding_transcript_exon_variant,,ENST00000478556,;							LOW	402/2433		ZN33A_HUMAN			Transcript			.	ENSP00000387713		CCDS31182.1			1	
MSGN1	0	LGGM	GRCh37	2	17998132	17998132	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	18	3	.	.	ENST00000281047.3:c.347G>A	p.Gly116Asp	p.G116D	ENST00000281047	NM_001105569.1	116	gGc/gAc	0	1	1	UPI00001D7580	0	NA	ENST00000281047	not_provided	ENSG00000151379	14907		21	1.59		HGNC	p.G116D	rs267599014	MSGN1		SNV						1	ENST00000281047	protein_coding	getma.org/?cm=var&var=hg19,2,17998132,G,A&fts=all		hmmpanther:PTHR20937,hmmpanther:PTHR20937:SF4,Superfamily_domains:SSF47459		G/D		A	low	370/606		getma.org/?cm=msa&ty=f&p=MSGN1_HUMAN&rb=1&re=124&var=G116D	deleterious(0.05)				YES	MSGN1,missense_variant,p.Gly116Asp,ENST00000281047,NM_001105569.1;							MODERATE	347/582	G116D	MSGN1_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000281047		CCDS42657.1			1	
PRR14L	0	LGGM	GRCh37	22	32099549	32099549	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	45	3	.	.	ENST00000327423.6:c.5987C>A	p.Pro1996Gln	p.P1996Q	ENST00000327423	NM_173566.2	1996	cCa/cAa	0	1	1	UPI0000207582	0	NA	ENST00000327423		ENSG00000183530	28738		48	1.04		HGNC	p.P1996Q		PRR14L		SNV							ENST00000327423	protein_coding	getma.org/?cm=var&var=hg19,22,32099549,G,T&fts=all		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		P/Q		T	low	6177/10826		getma.org/?cm=msa&ty=f&p=PR14L_HUMAN&rb=1501&re=1999&var=P1996Q	deleterious(0.02)	C9J9V0_HUMAN			YES	PRR14L,missense_variant,p.Pro1996Gln,ENST00000327423,NM_173566.2;PRR14L,missense_variant,p.Pro1996Gln,ENST00000434485,;PRR14L,missense_variant,p.Pro1996Gln,ENST00000397493,;PRR14L,missense_variant,p.Pro299Gln,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000492705,;PRR14L,missense_variant,p.Pro53Gln,ENST00000432485,;PRR14L,missense_variant,p.Pro665Gln,ENST00000431684,;							MODERATE	5987/6456	P1996Q	PR14L_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000331845		CCDS13900.2			1	
GCHFR	0	LGGM	GRCh37	15	41058095	41058095	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	5	3	.	.	ENST00000260447.4:c.107A>G	p.Lys36Arg	p.K36R	ENST00000260447	NM_005258.2	36	aAg/aGg	0	1	1	UPI000013D0DC	0		ENST00000260447		ENSG00000137880	4194		8			HGNC	p.K36R	rs567335408	GCHFR		SNV				0.000123			ENST00000561160	protein_coding		G:0.0008	hmmpanther:PTHR16852,hmmpanther:PTHR16852:SF2,Pfam_domain:PF06399,Gene3D:1jg5A00,Superfamily_domains:0039531		K/R		G		268/775			tolerated(0.77)	H0YNX7_HUMAN	G:0	G:0	YES	GCHFR,missense_variant,p.Lys19Arg,ENST00000558467,;GCHFR,missense_variant,p.Lys36Arg,ENST00000260447,NM_005258.2;GCHFR,missense_variant,p.Lys19Arg,ENST00000559932,;GCHFR,missense_variant,p.Lys25Arg,ENST00000559445,;GCHFR,missense_variant,p.Lys36Arg,ENST00000561160,;C15orf62,upstream_gene_variant,,ENST00000344320,NM_001130448.2;DNAJC17,downstream_gene_variant,,ENST00000220496,NM_018163.2;GCHFR,intron_variant,,ENST00000558670,;DNAJC17,downstream_gene_variant,,ENST00000558727,;DNAJC17,downstream_gene_variant,,ENST00000559238,;DNAJC17,downstream_gene_variant,,ENST00000561110,;		G:0.0002					MODERATE	107/255		GFRP_HUMAN		G:0	Transcript		benign(0.062)	.	ENSP00000260447	8.24E-06	CCDS10064.1		G:0	1	
NLGN1	0	LGGM	GRCh37	3	173518130	173518130	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	57	4	.	.	ENST00000457714.1:c.494-7340G>A		*165*	ENST00000457714	NM_014932.3			0	1	1	UPI0000072F54	0		ENST00000457714		ENSG00000169760	14291		61			HGNC	p.A201T		NLGN1		SNV							ENST00000401917	protein_coding							A		-/8242							YES	NLGN1,missense_variant,p.Ala201Thr,ENST00000401917,;NLGN1,missense_variant,p.Ala201Thr,ENST00000415045,;NLGN1,intron_variant,,ENST00000457714,NM_014932.3;NLGN1,intron_variant,,ENST00000361589,;NLGN1,intron_variant,,ENST00000545397,;							MODIFIER	-/2472		NLGN1_HUMAN			Transcript			.	ENSP00000392500		CCDS3222.1			1	
C2orf71	0	LGGM	GRCh37	2	29296602	29296602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	4	.	.	ENST00000331664.5:c.526T>A	p.Phe176Ile	p.F176I	ENST00000331664	NM_001029883.2	176	Ttc/Atc	0	1	1	UPI0000251DD8	0	NA	ENST00000331664		ENSG00000179270	34383		27	2.135		HGNC	p.F176I		C2orf71		SNV			1				ENST00000331664	protein_coding	getma.org/?cm=var&var=hg19,2,29296602,A,T&fts=all		hmmpanther:PTHR22017,Pfam_domain:PF15449		F/I		T	medium	526/7044		getma.org/?cm=msa&ty=f&p=CB071_HUMAN&rb=1&re=1286&var=F176I	deleterious(0)				YES	C2orf71,missense_variant,p.Phe176Ile,ENST00000331664,NM_001029883.2;							MODERATE	526/3867	F176I	CB071_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332809		CCDS42669.1			1	
AC109829.1	0	LGGM	GRCh37	2	27789203	27789203	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	30	4	.	.	ENST00000447166.1:c.326C>A	p.Ser109Ter	p.S109*	ENST00000447166		109	tCa/tAa	0	1	1	UPI000173A56C	0		ENST00000447166		ENSG00000233438			34			Clone_based_vega_gene	p.S109X		AC109829.1		SNV							ENST00000447166	protein_coding					S/*		A		367/825				C9JG08_HUMAN			YES	AC109829.1,stop_gained,p.Ser109Ter,ENST00000447166,;							HIGH	326/784					Transcript			.	ENSP00000403181					1	
EBLN2	0	LGGM	GRCh37	3	73111301	73111301	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	0	4	.	.	ENST00000533473.1:c.69A>T	p.Arg23Ser	p.R23S	ENST00000533473	NM_018029.3	23	agA/agT	0	1	1	UPI0000231C2D	0	NA	ENST00000533473		ENSG00000255423	25493		4	0		HGNC	p.R23S		EBLN2		SNV							ENST00000533473	protein_coding	getma.org/?cm=var&var=hg19,3,73111301,A,T&fts=all				R/S		T	neutral	492/1679		getma.org/?cm=msa&ty=f&p=EBLN2_HUMAN&rb=1&re=60&var=R23S	deleterious_low_confidence(0)				YES	EBLN2,missense_variant,p.Arg23Ser,ENST00000533473,NM_018029.3;PPP4R2,intron_variant,,ENST00000356692,;PPP4R2,intron_variant,,ENST00000295862,NM_174907.2;PPP4R2,intron_variant,,ENST00000394284,;PPP4R2,intron_variant,,ENST00000488810,;PPP4R2,upstream_gene_variant,,ENST00000460360,;PPP4R2,downstream_gene_variant,,ENST00000476505,;PPP4R2,intron_variant,,ENST00000482242,;PPP4R2,downstream_gene_variant,,ENST00000470976,;							MODERATE	69/819	R23S	EBLN2_HUMAN			Transcript		benign(0.227)	.	ENSP00000432104		CCDS54608.1			1	
KNSTRN	0	LGGM	GRCh37	15	40682112	40682112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	20	4	.	.	ENST00000249776.8:c.667A>G	p.Ser223Gly	p.S223G	ENST00000249776	NM_033286.3	223	Agc/Ggc	0	1	1	UPI000016074A	0	NA	ENST00000249776		ENSG00000128944	30767		24	1.04		HGNC	p.S223G		KNSTRN		SNV							ENST00000416151	protein_coding	getma.org/?cm=var&var=hg19,15,40682112,A,G&fts=all		hmmpanther:PTHR31940,hmmpanther:PTHR31940:SF2		S/G		G	low	782/1714		getma.org/?cm=msa&ty=f&p=SKAP_HUMAN&rb=201&re=316&var=S223G	deleterious(0.02)				YES	KNSTRN,missense_variant,p.Ser223Gly,ENST00000416151,NM_001142761.1;KNSTRN,missense_variant,p.Ser223Gly,ENST00000249776,NM_033286.3;KNSTRN,missense_variant,p.Ser145Gly,ENST00000608100,;KNSTRN,missense_variant,p.Ser223Gly,ENST00000448395,NM_001142762.1;KNSTRN,missense_variant,p.Ser212Gly,ENST00000557920,;KNSTRN,3_prime_UTR_variant,,ENST00000560981,;KNSTRN,3_prime_UTR_variant,,ENST00000561169,;KNSTRN,3_prime_UTR_variant,,ENST00000560321,;KNSTRN,3_prime_UTR_variant,,ENST00000560220,;KNSTRN,3_prime_UTR_variant,,ENST00000559304,;KNSTRN,3_prime_UTR_variant,,ENST00000559083,;KNSTRN,non_coding_transcript_exon_variant,,ENST00000561367,;KNSTRN,downstream_gene_variant,,ENST00000559591,;KNSTRN,downstream_gene_variant,,ENST00000560673,;							MODERATE	667/951	S223G	SKAP_HUMAN			Transcript		benign(0.081)	.	ENSP00000249776		CCDS42021.1			1	
CIT	0	LGGM	GRCh37	12	120152095	120152095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	22	4	.	.	ENST00000392521.2:c.4213C>A	p.His1405Asn	p.H1405N	ENST00000392521	NM_001206999.1	1405	Cac/Aac	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		26	2.135		HGNC	p.H1363N		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120152095,G,T&fts=all		PROSITE_profiles:PS50081,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,PIRSF_domain:PIRSF038145,SMART_domains:SM00109,Superfamily_domains:SSF57889		H/N		T	medium	4140/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=1167&re=1366&var=H1363N	deleterious(0)					CIT,missense_variant,p.His1405Asn,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.His1363Asn,ENST00000261833,NM_007174.2;CIT,missense_variant,p.His976Asn,ENST00000392520,;MIR1178,upstream_gene_variant,,ENST00000408396,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,upstream_gene_variant,,ENST00000543324,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000544588,;CIT,upstream_gene_variant,,ENST00000543239,;CIT,upstream_gene_variant,,ENST00000536008,;CIT,upstream_gene_variant,,ENST00000544800,;CIT,upstream_gene_variant,,ENST00000538073,;							MODERATE	4087/6084	H1363N	CTRO_HUMAN			Transcript		benign(0.057)	.	ENSP00000261833		CCDS9192.1			1	
WASF1	0	LGGM	GRCh37	6	110421777	110421777	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	11	4	.	.	ENST00000392589.1:c.1628A>G	p.Tyr543Cys	p.Y543C	ENST00000392589	NM_003931.2	543	tAt/tGt	0	1		UPI000003AC31	0	getma.org/pdb.php?prot=WASF1_HUMAN&from=522&to=559&var=Y543C	ENST00000359451		ENSG00000112290	12732		15	1.15		HGNC	p.Y543C		WASF1		SNV							ENST00000392589	protein_coding	getma.org/?cm=var&var=hg19,6,110421777,T,C&fts=all		hmmpanther:PTHR12902		Y/C		C	low	2320/3075		getma.org/?cm=msa&ty=f&p=WASF1_HUMAN&rb=522&re=559&var=Y543C	deleterious(0)	Q5SZK5_HUMAN,Q5SZK4_HUMAN,Q5SZK3_HUMAN				WASF1,missense_variant,p.Tyr543Cys,ENST00000392589,NM_003931.2;WASF1,missense_variant,p.Tyr543Cys,ENST00000392588,NM_001024934.1;WASF1,missense_variant,p.Tyr543Cys,ENST00000359451,NM_001024935.1;WASF1,missense_variant,p.Tyr543Cys,ENST00000392586,;WASF1,missense_variant,p.Tyr543Cys,ENST00000392587,NM_001024936.1;							MODERATE	1628/1680	Y543C	WASF1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000352425		CCDS5080.1			1	
ZNF30	0	LGGM	GRCh37	19	35434957	35434957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	88	4	.	.	ENST00000439785.1:c.1090C>A	p.Gln364Lys	p.Q364K	ENST00000439785	NM_001099438.1	364	Cag/Aag	0	1		UPI0000E0464D	0	getma.org/pdb.php?prot=ZNF30_HUMAN&from=355&to=385&var=Q363K	ENST00000601142		ENSG00000168661	13090		92	1.135		HGNC	p.Q364K		ZNF30		SNV							ENST00000303586	protein_coding	getma.org/?cm=var&var=hg19,19,35434957,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/K		A	low	1324/2280		getma.org/?cm=msa&ty=f&p=ZNF30_HUMAN&rb=355&re=385&var=Q363K	tolerated(0.05)					ZNF30,missense_variant,p.Gln364Lys,ENST00000439785,NM_001099438.1;ZNF30,missense_variant,p.Gln364Lys,ENST00000303586,NM_194325.2,NM_001099437.1;ZNF30,missense_variant,p.Gln282Lys,ENST00000426813,;ZNF30,missense_variant,p.Gln363Lys,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;							MODERATE	1087/1872	Q363K	ZNF30_HUMAN			Transcript		benign(0.239)	.	ENSP00000469954		CCDS46045.1			1	
SALL3	0	LGGM	GRCh37	18	76752209	76752209	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	5	4	.	.	ENST00000537592.2:c.218G>T	p.Cys73Phe	p.C73F	ENST00000537592	NM_171999.3	73	tGc/tTc	0	1	1	UPI000013E5A7	0	NA	ENST00000537592		ENSG00000256463	10527		9	2.82		HGNC	p.C73F		SALL3		SNV							ENST00000575389	protein_coding	getma.org/?cm=var&var=hg19,18,76752209,G,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF46		C/F		T	medium	218/3903		getma.org/?cm=msa&ty=f&p=SALL3_HUMAN&rb=1&re=85&var=C73F	deleterious(0)				YES	SALL3,missense_variant,p.Cys73Phe,ENST00000575389,;SALL3,missense_variant,p.Cys73Phe,ENST00000537592,NM_171999.3;SALL3,5_prime_UTR_variant,,ENST00000536229,;SALL3,upstream_gene_variant,,ENST00000573324,;SALL3,downstream_gene_variant,,ENST00000572928,;							MODERATE	218/3903	C73F	SALL3_HUMAN			Transcript		unknown(0)	.	ENSP00000441823		CCDS12013.1			1	
CD52	0	LGGM	GRCh37	1	26646750	26646750	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	26	4	.	.	ENST00000374213.2:c.143T>A	p.Phe48Tyr	p.F48Y	ENST00000374213	NM_001803.2	48	tTc/tAc	0	1	1	UPI000002D1BA	0		ENST00000374213		ENSG00000169442	1804		30			HGNC	p.F48Y		CD52		SNV							ENST00000374213	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR15029:SF0,hmmpanther:PTHR15029,Pfam_domain:PF15116		F/Y		A		204/468			deleterious_low_confidence(0.04)				YES	CD52,missense_variant,p.Phe48Tyr,ENST00000374213,NM_001803.2;AIM1L,downstream_gene_variant,,ENST00000527815,NM_001039775.3;AIM1L,downstream_gene_variant,,ENST00000308182,;UBXN11,upstream_gene_variant,,ENST00000374222,;UBXN11,upstream_gene_variant,,ENST00000374217,NM_145345.2;CD52,non_coding_transcript_exon_variant,,ENST00000470468,;AIM1L,downstream_gene_variant,,ENST00000374211,;CD52,downstream_gene_variant,,ENST00000492808,;AIM1L,downstream_gene_variant,,ENST00000374208,;							MODERATE	143/186		CD52_HUMAN			Transcript		benign(0.021)	.	ENSP00000363330		CCDS30647.1			1	
SLC40A1	0	LGGM	GRCh37	2	190428384	190428384	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	91	4	.	.	ENST00000261024.2:c.1328C>A	p.Pro443Gln	p.P443Q	ENST00000261024	NM_014585.5	443	cCg/cAg	0	1	1	UPI0000034CC2	0	NA	ENST00000261024		ENSG00000138449	10909		95	1.43		HGNC	p.P443Q		SLC40A1		SNV			1				ENST00000261024	protein_coding	getma.org/?cm=var&var=hg19,2,190428384,G,T&fts=all		Pfam_domain:PF06963,hmmpanther:PTHR11660,hmmpanther:PTHR11660:SF47		P/Q		T	low	1755/3442		getma.org/?cm=msa&ty=f&p=S40A1_HUMAN&rb=22&re=531&var=P443Q	tolerated(0.38)	Q4PNE6_HUMAN,E7ES28_HUMAN,E7EQF8_HUMAN			YES	SLC40A1,missense_variant,p.Pro443Gln,ENST00000261024,NM_014585.5;SLC40A1,downstream_gene_variant,,ENST00000427241,;							MODERATE	1328/1716	P443Q	S40A1_HUMAN			Transcript		benign(0.024)	.	ENSP00000261024		CCDS2299.1			1	
ENTPD5	0	LGGM	GRCh37	14	74454694	74454694	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	13	4	.	.	ENST00000334696.6:c.112A>G	p.Met38Val	p.M38V	ENST00000334696	NM_001249.2	38	Atg/Gtg	0	1	1	UPI0000052B69	0	NA	ENST00000334696		ENSG00000187097	3367		17	0.805		HGNC	p.M38V		ENTPD5		SNV							ENST00000334696	protein_coding	getma.org/?cm=var&var=hg19,14,74454694,T,C&fts=all		hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF35,Transmembrane_helices:TMhelix		M/V		C	low	432/5842		getma.org/?cm=msa&ty=f&p=ENTP5_HUMAN&rb=1&re=40&var=M38V	tolerated(0.53)	G3V450_HUMAN			YES	ENTPD5,missense_variant,p.Met38Val,ENST00000334696,NM_001249.2;ENTPD5,missense_variant,p.Met38Val,ENST00000557325,;ENTPD5,missense_variant,p.Met38Val,ENST00000556242,;ENTPD5,missense_variant,p.Met38Val,ENST00000553284,;ENTPD5,downstream_gene_variant,,ENST00000554664,;							MODERATE	112/1287	M38V	ENTP5_HUMAN			Transcript		benign(0.002)	.	ENSP00000335246		CCDS9825.1			1	
POU4F1	0	LGGM	GRCh37	13	79175754	79175754	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	6	4	.	.	ENST00000377208.5:c.1056C>A	p.Gly352=	p.G352=	ENST00000377208	NM_006237.3	352	ggC/ggA	0	1	1	UPI000013DCAA	0		ENST00000377208		ENSG00000152192	9218	8.98E-05	10			HGNC	p.G352G	rs549899918,COSM948742	POU4F1	0.000185	SNV				0.000811		0,1	ENST00000377208	protein_coding			hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF42,Gene3D:1.10.10.60,Superfamily_domains:SSF46689		G		T		1268/4525	0.000407						YES	POU4F1,synonymous_variant,p.=,ENST00000377208,NM_006237.3;RNF219-AS1,intron_variant,,ENST00000606429,;RNF219-AS1,intron_variant,,ENST00000560584,;RNF219-AS1,intron_variant,,ENST00000444769,;RNF219-AS1,intron_variant,,ENST00000560209,;RNF219-AS1,intron_variant,,ENST00000607860,;RNF219-AS1,intron_variant,,ENST00000607205,;RNF219-AS1,intron_variant,,ENST00000606124,;RNF219-AS1,intron_variant,,ENST00000606376,;RNF219-AS1,intron_variant,,ENST00000607220,;RNF219-AS1,intron_variant,,ENST00000430549,;RP11-52L5.6,downstream_gene_variant,,ENST00000607269,;	0.00164				0,1		LOW	1056/1260		PO4F1_HUMAN	0.00146		Transcript			common_variant	ENSP00000366413	0.000708	CCDS31996.1			1	
ZDHHC11	0	LGGM	GRCh37	5	821986	821986	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	9	4	.	.	ENST00000283441.8:c.1048T>A	p.Ser350Thr	p.S350T	ENST00000283441	NM_024786.2	350	Tct/Act	0	1	1	UPI000013C384	0	NA	ENST00000283441		ENSG00000188818	19158		13	0		HGNC	p.S350T		ZDHHC11		SNV							ENST00000424784	protein_coding	getma.org/?cm=var&var=hg19,5,821986,A,T&fts=all				S/T		T	neutral	1432/2604		getma.org/?cm=msa&ty=f&p=ZDH11_HUMAN&rb=276&re=412&var=S350T	deleterious_low_confidence(0)				YES	ZDHHC11,missense_variant,p.Ser350Thr,ENST00000283441,NM_024786.2;ZDHHC11,missense_variant,p.Ser350Thr,ENST00000424784,;ZDHHC11,non_coding_transcript_exon_variant,,ENST00000503758,;ZDHHC11,downstream_gene_variant,,ENST00000508951,;ZDHHC11,3_prime_UTR_variant,,ENST00000507800,;SPCS2P3,downstream_gene_variant,,ENST00000500401,;							MODERATE	1048/1239	S350T	ZDH11_HUMAN			Transcript		benign(0.01)	.	ENSP00000283441		CCDS3857.1			1	
SP8	0	LGGM	GRCh37	7	20824308	20824308	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	6	4	.	.	ENST00000418710.2:c.1128C>A	p.Cys376Ter	p.C376*	ENST00000418710	NM_182700.4	376	tgC/tgA	0	1		UPI00001AADF3	0	NA	ENST00000361443		ENSG00000164651	19196		10	0		HGNC	p.C376X		SP8		SNV							ENST00000418710	protein_coding	getma.org/?cm=var&var=hg19,7,20824308,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF134,SMART_domains:SM00355		C/*		T	NA	1312/1714		NA						SP8,stop_gained,p.Cys358Ter,ENST00000361443,NM_198956.2;SP8,stop_gained,p.Cys376Ter,ENST00000418710,NM_182700.4;							HIGH	1074/1473	C358*	SP8_HUMAN			Transcript			.	ENSP00000354482		CCDS5372.1			1	
WDR53	0	LGGM	GRCh37	3	196288337	196288337	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	9	4	.	.	ENST00000332629.5:c.10A>T	p.Lys4Ter	p.K4*	ENST00000332629	NM_182627.1	4	Aag/Tag	0	1	1	UPI000013E0D7	0	NA	ENST00000332629		ENSG00000185798	28786		13	0		HGNC	p.K4X		WDR53		SNV							ENST00000456677	protein_coding	getma.org/?cm=var&var=hg19,3,196288337,T,A&fts=all		SMART_domains:SM00320		K/*		A	NA	578/1671		NA		C9JQN1_HUMAN,C9JJZ8_HUMAN,C9JDR5_HUMAN,A0MNP1_HUMAN			YES	WDR53,stop_gained,p.Lys4Ter,ENST00000332629,NM_182627.1;WDR53,stop_gained,p.Lys4Ter,ENST00000425888,;WDR53,stop_gained,p.Lys4Ter,ENST00000456677,;WDR53,intron_variant,,ENST00000433160,;WDR53,intron_variant,,ENST00000429115,;							HIGH	10/1077	K4*	WDR53_HUMAN			Transcript			.	ENSP00000328079		CCDS3318.1			1	
PTPRT	0	LGGM	GRCh37	20	41076919	41076919	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	90	4	.	.	ENST00000373198.4:c.1501A>C	p.Lys501Gln	p.K501Q	ENST00000373198	NM_133170.3	501	Aag/Cag	0	1	1	UPI0000246C03	0	getma.org/pdb.php?prot=PTPRT_HUMAN&from=498&to=578&var=K501Q	ENST00000373187		ENSG00000196090	9682		94	0.83		HGNC	p.K501Q		PTPRT		SNV							ENST00000373198	protein_coding	getma.org/?cm=var&var=hg19,20,41076919,T,G&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		K/Q		G	low	1501/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=498&re=578&var=K501Q	tolerated(0.24)				YES	PTPRT,missense_variant,p.Lys501Gln,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Lys501Gln,ENST00000373201,;PTPRT,missense_variant,p.Lys501Gln,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Lys501Gln,ENST00000373190,;PTPRT,missense_variant,p.Lys501Gln,ENST00000373184,;PTPRT,missense_variant,p.Lys501Gln,ENST00000356100,;PTPRT,missense_variant,p.Lys501Gln,ENST00000373187,;							MODERATE	1501/4326	K501Q	PTPRT_HUMAN			Transcript		benign(0.002)	.	ENSP00000362283		CCDS42874.1			1	
GUCA1B	0	LGGM	GRCh37	6	42153416	42153416	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	15	5	.	.	ENST00000230361.3:c.475+2T>C		p.X159_splice	ENST00000230361	NM_002098.5			0	1	1	UPI000013C92C	0		ENST00000230361		ENSG00000112599	4679		20			HGNC	-		GUCA1B		SNV			1				ENST00000230361	protein_coding							G		-/1113							YES	GUCA1B,splice_donor_variant,,ENST00000230361,NM_002098.5;							HIGH	475/603		GUC1B_HUMAN			Transcript			.	ENSP00000230361		CCDS4865.1			1	
CTSO	0	LGGM	GRCh37	4	156858606	156858606	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	11	5	.	.	ENST00000433477.3:c.582A>G	p.Glu194=	p.E194=	ENST00000433477	NM_001334.2	194	gaA/gaG	0	1	1	UPI000006232B	0		ENST00000433477		ENSG00000256043	2542		16			HGNC	p.E194E		CTSO		SNV							ENST00000433477	protein_coding			Superfamily_domains:SSF54001,SMART_domains:SM00645,Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411:SF287,hmmpanther:PTHR12411		E		C		652/2954							YES	CTSO,synonymous_variant,p.=,ENST00000433477,NM_001334.2;							LOW	582/966		CATO_HUMAN			Transcript			.	ENSP00000414904		CCDS3794.1			1	
TPR	0	LGGM	GRCh37	1	186344115	186344115	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	36	5	.	.	ENST00000367478.4:c.46A>C	p.Lys16Gln	p.K16Q	ENST00000367478	NM_003292.2	16	Aag/Cag	0	1	1	UPI000046FCF4	0	NA	ENST00000367478		ENSG00000047410	12017		41	1.845		HGNC	p.K16Q		TPR		SNV			1				ENST00000367478	protein_coding	getma.org/?cm=var&var=hg19,1,186344115,T,G&fts=all		hmmpanther:PTHR18898		K/Q		G	low	343/9708		getma.org/?cm=msa&ty=f&p=TPR_HUMAN&rb=1&re=69&var=K16Q		Q9UE33_HUMAN			YES	TPR,missense_variant,p.Lys16Gln,ENST00000367478,NM_003292.2;TPR,missense_variant,p.Lys92Gln,ENST00000451586,;C1orf27,upstream_gene_variant,,ENST00000367470,NM_001164245.1;C1orf27,upstream_gene_variant,,ENST00000287859,NM_017847.5;C1orf27,upstream_gene_variant,,ENST00000419367,NM_001164246.1;C1orf27,upstream_gene_variant,,ENST00000432021,;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;							MODERATE	46/7092	K16Q	TPR_HUMAN			Transcript		benign(0.403)	.	ENSP00000356448		CCDS41446.1			1	
OR51A4	0	LGGM	GRCh37	11	4968248	4968248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	7	5	.	.	ENST00000380373.2:c.83G>T	p.Trp28Leu	p.W28L	ENST00000380373	NM_001005329.1	28	tGg/tTg	0	1	1	UPI0000047195	0	NA	ENST00000380373		ENSG00000205497	14795		12	2.76		HGNC	p.W28L		OR51A4		SNV							ENST00000380373	protein_coding	getma.org/?cm=var&var=hg19,11,4968248,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF61,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		W/L		A	medium	109/1002		getma.org/?cm=msa&ty=f&p=O51A4_HUMAN&rb=1&re=42&var=W28L	deleterious(0.02)				YES	OR51A4,missense_variant,p.Trp28Leu,ENST00000380373,NM_001005329.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	83/942	W28L	O51A4_HUMAN			Transcript		benign(0.162)	.	ENSP00000369731		CCDS31367.1			1	
HCN4	0	LGGM	GRCh37	15	73624629	73624629	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	6	5	.	.	ENST00000261917.3:c.1214T>A	p.Phe405Tyr	p.F405Y	ENST00000261917	NM_005477.2	405	tTc/tAc	0	1	1	UPI000003FFB5	0	NA	ENST00000261917		ENSG00000138622	16882		11	1.485		HGNC	p.F405Y		HCN4		SNV			1				ENST00000261917	protein_coding	getma.org/?cm=var&var=hg19,15,73624629,A,T&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324		F/Y		T	low	2208/7228		getma.org/?cm=msa&ty=f&p=HCN4_HUMAN&rb=297&re=513&var=F405Y	tolerated(0.05)				YES	HCN4,missense_variant,p.Phe405Tyr,ENST00000261917,NM_005477.2;RP11-272D12.1,upstream_gene_variant,,ENST00000558742,;RP11-272D12.1,upstream_gene_variant,,ENST00000557981,;							MODERATE	1214/3612	F405Y	HCN4_HUMAN			Transcript		unknown(0)	.	ENSP00000261917		CCDS10248.1			1	
PHF20L1	0	LGGM	GRCh37	8	133811086	133811086	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	5	.	.	ENST00000395386.2:c.409C>T	p.Pro137Ser	p.P137S	ENST00000395386	NM_016018.4	137	Ccc/Tcc	0	1	1	UPI0000DBD7AF	0	getma.org/pdb.php?prot=P20L1_HUMAN&from=85&to=141&var=P137S	ENST00000395386		ENSG00000129292	24280		15	1.05		HGNC	p.P137S		PHF20L1		SNV							ENST00000395383	protein_coding	getma.org/?cm=var&var=hg19,8,133811086,C,T&fts=all		Gene3D:2.30.30.140,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26,SMART_domains:SM00333,SMART_domains:SM00743,Superfamily_domains:SSF63748		P/S		T	low	708/6237		getma.org/?cm=msa&ty=f&p=P20L1_HUMAN&rb=85&re=141&var=P137S	tolerated(0.37)	E5RK91_HUMAN,B3KWX5_HUMAN			YES	PHF20L1,missense_variant,p.Pro137Ser,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Pro137Ser,ENST00000395390,NM_001277196.1;PHF20L1,missense_variant,p.Pro137Ser,ENST00000337920,NM_198513.1;PHF20L1,missense_variant,p.Pro137Ser,ENST00000395376,;PHF20L1,missense_variant,p.Pro137Ser,ENST00000395379,;PHF20L1,5_prime_UTR_variant,,ENST00000220847,;PHF20L1,downstream_gene_variant,,ENST00000522580,;PHF20L1,missense_variant,p.Pro137Ser,ENST00000486199,;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,,ENST00000485595,;PHF20L1,upstream_gene_variant,,ENST00000395374,;PHF20L1,upstream_gene_variant,,ENST00000521038,;							MODERATE	409/3054	P137S	P20L1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000378784		CCDS6367.2			1	
NFATC1	0	LGGM	GRCh37	18	77227609	77227609	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	13	5	.	.	ENST00000329101.4:c.2053+27C>T		*685*	ENST00000329101	NM_172387.2			0	1		UPI000012FFB5	0	getma.org/pdb.php?prot=Q2M1S3_HUMAN&from=694&to=716&var=R707C	ENST00000427363		ENSG00000131196	7775		18	0		HGNC	p.R694C	rs755907573,COSM1680438	NFATC1	6.11E-05	SNV						0,1	ENST00000592223	protein_coding	getma.org/?cm=var&var=hg19,18,77227609,C,T&fts=all						T	neutral	-/2832	4.54E-05	getma.org/?cm=msa&ty=f&p=Q2M1S3_HUMAN&rb=664&re=716&var=R707C		F5H4S8_HUMAN				NFATC1,missense_variant,p.Arg707Cys,ENST00000591814,NM_172390.2;NFATC1,missense_variant,p.Arg694Cys,ENST00000592223,NM_001278675.1;NFATC1,3_prime_UTR_variant,,ENST00000587635,;NFATC1,intron_variant,,ENST00000253506,NM_006162.4,NM_001278670.1,NM_001278669.1;NFATC1,intron_variant,,ENST00000329101,NM_172387.2;NFATC1,intron_variant,,ENST00000318065,NM_001278672.1,NM_172389.2;NFATC1,intron_variant,,ENST00000397790,NM_172388.2;NFATC1,intron_variant,,ENST00000427363,;NFATC1,intron_variant,,ENST00000542384,;NFATC1,intron_variant,,ENST00000586434,;NFATC1,intron_variant,,ENST00000545796,NM_001278673.1;NFATC1,intron_variant,,ENST00000590313,;					0,1		MODIFIER	-/2832	R707C	NFAC1_HUMAN			Transcript			.	ENSP00000389377	3.29E-05	CCDS62467.1			1	
TPSG1	0	LGGM	GRCh37	16	1272738	1272738	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	5	.	.	ENST00000234798.4:c.425T>C	p.Leu142Pro	p.L142P	ENST00000234798	NM_012467.3	142	cTg/cCg	0	1	1	UPI000013C9BB	0	getma.org/pdb.php?prot=TRYG1_HUMAN&from=38&to=265&var=L142P	ENST00000234798		ENSG00000116176	14134		15	1.02		HGNC	p.L142P		TPSG1		SNV							ENST00000234798	protein_coding	getma.org/?cm=var&var=hg19,16,1272738,A,G&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF90,SMART_domains:SM00020,Superfamily_domains:SSF50494		L/P		G	low	430/1108		getma.org/?cm=msa&ty=f&p=TRYG1_HUMAN&rb=38&re=265&var=L142P	tolerated(0.2)				YES	TPSG1,missense_variant,p.Leu142Pro,ENST00000234798,NM_012467.3;CACNA1H,downstream_gene_variant,,ENST00000348261,NM_021098.2;CACNA1H,downstream_gene_variant,,ENST00000358590,NM_001005407.1;CACNA1H,downstream_gene_variant,,ENST00000565831,;CACNA1H,downstream_gene_variant,,ENST00000564927,;CACNA1H,downstream_gene_variant,,ENST00000569107,;CACNA1H,downstream_gene_variant,,ENST00000564231,;CACNA1H,downstream_gene_variant,,ENST00000562079,;TPSB2,downstream_gene_variant,,ENST00000339687,;TPSG1,non_coding_transcript_exon_variant,,ENST00000564684,;							MODERATE	425/966	L142P	TRYG1_HUMAN			Transcript		benign(0.359)	.	ENSP00000234798		CCDS10430.1			1	
ATOH8	0	LGGM	GRCh37	2	85991138	85991138	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	8	5	.	.	ENST00000306279.3:c.793A>T	p.Lys265Ter	p.K265*	ENST00000306279	NM_032827.6	265	Aag/Tag	0	1	1	UPI0000456DEB	0	NA	ENST00000306279		ENSG00000168874	24126		13	0		HGNC	p.K265X		ATOH8		SNV							ENST00000306279	protein_coding	getma.org/?cm=var&var=hg19,2,85991138,A,T&fts=all		PROSITE_profiles:PS50888,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF8,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459		K/*		T	NA	1089/2438		NA					YES	ATOH8,stop_gained,p.Lys265Ter,ENST00000306279,NM_032827.6;ATOH8,non_coding_transcript_exon_variant,,ENST00000463422,;ATOH8,non_coding_transcript_exon_variant,,ENST00000469442,;ATOH8,non_coding_transcript_exon_variant,,ENST00000473116,;							HIGH	793/966	K265*	ATOH8_HUMAN			Transcript			.	ENSP00000304676		CCDS1985.1			1	
CACNA1B	0	LGGM	GRCh37	9	140911609	140911609	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	20	5	.	.	ENST00000371372.1:c.2267+3922A>T		*756*	ENST00000371372	NM_001243812.1			0	1	1	UPI0000127267	0		ENST00000371372		ENSG00000148408	1389		25			HGNC	p.R53R		CACNA1B		SNV							ENST00000277550	protein_coding							T		-/9790				Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN			YES	CACNA1B,synonymous_variant,p.=,ENST00000277550,;CACNA1B,intron_variant,,ENST00000277549,;CACNA1B,intron_variant,,ENST00000371372,NM_001243812.1,NM_000718.3;CACNA1B,intron_variant,,ENST00000371363,;CACNA1B,intron_variant,,ENST00000371355,;CACNA1B,intron_variant,,ENST00000371357,;CACNA1B,intron_variant,,ENST00000277551,;							MODIFIER	-/7020		CAC1B_HUMAN			Transcript			.	ENSP00000360423		CCDS59522.1			1	
CARD11	0	LGGM	GRCh37	7	2985489	2985489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	96	5	.	.	ENST00000396946.4:c.322G>T	p.Gly108Trp	p.G108W	ENST00000396946	NM_032415.4	108	Ggg/Tgg	0	1	1	UPI00003FED38	0	NA	ENST00000396946		ENSG00000198286	16393		101	2.73		HGNC	p.G108W		CARD11		SNV			1				ENST00000396946	protein_coding	getma.org/?cm=var&var=hg19,7,2985489,C,A&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF00619,PROSITE_profiles:PS50209,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF10,Superfamily_domains:SSF47986		G/W		A	medium	726/4366		getma.org/?cm=msa&ty=f&p=CAR11_HUMAN&rb=23&re=109&var=G108W	deleterious(0)	Q8TES3_HUMAN,E2QRC0_HUMAN			YES	CARD11,missense_variant,p.Gly108Trp,ENST00000396946,NM_032415.4;CARD11,downstream_gene_variant,,ENST00000356408,;AC004906.3,intron_variant,,ENST00000423194,;							MODERATE	322/3465	G108W	CAR11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380150		CCDS5336.2			1	
MYL5	0	LGGM	GRCh37	4	672762	672762	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	20	6	.	.	ENST00000400159.2:c.127G>A	p.Asp43Asn	p.D43N	ENST00000400159	NM_002477.1	43	Gat/Aat	0	1	1	UPI000012F210	0	getma.org/pdb.php?prot=MYL5_HUMAN&from=34&to=63&var=D43N	ENST00000400159		ENSG00000215375	7586		26	4.185		HGNC	p.D2N		MYL5		SNV							ENST00000511290	protein_coding	getma.org/?cm=var&var=hg19,4,672762,G,A&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23049,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13405,SMART_domains:SM00054,Superfamily_domains:SSF47473		D/N		A	high	232/666		getma.org/?cm=msa&ty=f&p=MYL5_HUMAN&rb=34&re=63&var=D43N	deleterious(0)				YES	MYL5,missense_variant,p.Asp2Asn,ENST00000506838,;MYL5,missense_variant,p.Asp48Asn,ENST00000507804,;MYL5,missense_variant,p.Asp2Asn,ENST00000511290,;MYL5,missense_variant,p.Asp43Asn,ENST00000400159,NM_002477.1;MYL5,missense_variant,p.Asp2Asn,ENST00000505477,;MFSD7,downstream_gene_variant,,ENST00000322224,;MFSD7,downstream_gene_variant,,ENST00000404286,NM_032219.2;MFSD7,downstream_gene_variant,,ENST00000503156,;MFSD7,downstream_gene_variant,,ENST00000347950,;MFSD7,downstream_gene_variant,,ENST00000515118,;MFSD7,downstream_gene_variant,,ENST00000512249,;ATP5I,upstream_gene_variant,,ENST00000304312,NM_007100.3;ATP5I,upstream_gene_variant,,ENST00000505852,;MYL5,missense_variant,p.Asp2Asn,ENST00000503300,;MYL5,missense_variant,p.Asp43Asn,ENST00000513662,;MFSD7,downstream_gene_variant,,ENST00000512400,;MYL5,downstream_gene_variant,,ENST00000502720,;MYL5,upstream_gene_variant,,ENST00000503612,;ATP5I,upstream_gene_variant,,ENST00000515202,;							MODERATE	127/522	D43N	MYL5_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000383023		CCDS43197.1			1	
RIF1	0	LGGM	GRCh37	2	152321029	152321029	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	32	6	.	.	ENST00000243326.5:c.4995A>C	p.Thr1665=	p.T1665=	ENST00000243326		1665	acA/acC	0	1	1	UPI000023729F	0		ENST00000243326		ENSG00000080345	23207		38			HGNC	p.T1665T		RIF1		SNV							ENST00000430328	protein_coding			hmmpanther:PTHR22928		T		C		5478/15003				C9J1D6_HUMAN,B4DRJ4_HUMAN			YES	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,upstream_gene_variant,,ENST00000454583,;							LOW	4995/7419		RIF1_HUMAN			Transcript			.	ENSP00000243326		CCDS2194.1			1	
TOPAZ1	0	LGGM	GRCh37	3	44346679	44346679	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	30	6	.	.	ENST00000309765.4:c.3905T>C	p.Leu1302Ser	p.L1302S	ENST00000309765	NM_001145030.1	1302	tTa/tCa	0	1	1	UPI000047FF75	0	NA	ENST00000309765		ENSG00000173769	24746		36	0.55		HGNC	p.L1302S		TOPAZ1		SNV							ENST00000309765	protein_coding	getma.org/?cm=var&var=hg19,3,44346679,T,C&fts=all		Pfam_domain:PF14669		L/S		C	neutral	4073/5334		getma.org/?cm=msa&ty=f&p=TOPZ1_HUMAN&rb=1201&re=1400&var=L1302S	deleterious(0)				YES	TOPAZ1,missense_variant,p.Leu1302Ser,ENST00000309765,NM_001145030.1;							MODERATE	3905/5079	L1302S	TOPZ1_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000310303		CCDS46809.1			1	
TLR6	0	LGGM	GRCh37	4	38828756	38828756	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	6	.	.	ENST00000436693.2:c.2339C>T	p.Ala780Val	p.A780V	ENST00000436693	NM_006068.4	780	gCt/gTt	0	1		UPI000013EE02	0	getma.org/pdb.php?prot=TLR6_HUMAN&from=644&to=780&var=A780V	ENST00000381950		ENSG00000174130	16711		18	2.1		HGNC	p.A780V		TLR6		SNV							ENST00000436693	protein_coding	getma.org/?cm=var&var=hg19,4,38828756,G,A&fts=all		PROSITE_profiles:PS50104,hmmpanther:PTHR24365:SF23,hmmpanther:PTHR24365,Gene3D:3.40.50.10140,SMART_domains:SM00255,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52200,Prints_domain:PR01537		A/V		A	medium	2405/2938		getma.org/?cm=msa&ty=f&p=TLR6_HUMAN&rb=644&re=780&var=A780V	deleterious(0.04)	D6RAV7_HUMAN,D6R979_HUMAN				TLR6,missense_variant,p.Ala780Val,ENST00000436693,NM_006068.4;TLR6,missense_variant,p.Ala780Val,ENST00000381950,;TLR1,intron_variant,,ENST00000506146,;TLR6,downstream_gene_variant,,ENST00000508254,;TLR6,downstream_gene_variant,,ENST00000514655,;							MODERATE	2339/2391	A780V	TLR6_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000371376		CCDS3446.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123466687	123466687	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	38	6	.	.	ENST00000529750.1:c.482A>G	p.Lys161Arg	p.K161R	ENST00000529750	NM_020716.1	161	aAa/aGa	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		44	1.865		HGNC	p.K161R		GRAMD1B		SNV							ENST00000529750	protein_coding	getma.org/?cm=var&var=hg19,11,123466687,A,G&fts=all		Pfam_domain:PF02893,hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3,SMART_domains:SM00568		K/R		G	low	809/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=96&re=163&var=K161R	deleterious(0.01)				YES	GRAMD1B,missense_variant,p.Lys161Arg,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Lys121Arg,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Lys168Arg,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Lys161Arg,ENST00000322282,;GRAMD1B,missense_variant,p.Lys157Arg,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;SF3A3P2,downstream_gene_variant,,ENST00000528675,;							MODERATE	482/2217	K161R	GRM1B_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000436500		CCDS53720.1			1	
BAZ2A	0	LGGM	GRCh37	12	57004239	57004239	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	6	.	.	ENST00000551812.1:c.1739A>G	p.Tyr580Cys	p.Y580C	ENST00000551812	NM_013449.3	580	tAt/tGt	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		29	2.325		HGNC	p.Y578C		BAZ2A		SNV							ENST00000549884	protein_coding	getma.org/?cm=var&var=hg19,12,57004239,T,C&fts=all		PROSITE_profiles:PS50982,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141,Gene3D:3.30.890.10,Pfam_domain:PF01429,SMART_domains:SM00391,Superfamily_domains:SSF54171		Y/C		C	medium	1933/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=546&re=620&var=Y580C	deleterious(0.03)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Tyr548Cys,ENST00000179765,;BAZ2A,missense_variant,p.Tyr550Cys,ENST00000379441,;BAZ2A,missense_variant,p.Tyr580Cys,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Tyr578Cys,ENST00000549884,;BAZ2A,missense_variant,p.Tyr9Cys,ENST00000547650,;BAZ2A,synonymous_variant,p.=,ENST00000551996,;BAZ2A,downstream_gene_variant,,ENST00000546695,;BAZ2A,downstream_gene_variant,,ENST00000549506,;BAZ2A,upstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000547647,;BAZ2A,downstream_gene_variant,,ENST00000551959,;BAZ2A,downstream_gene_variant,,ENST00000549327,;BAZ2A,upstream_gene_variant,,ENST00000548578,;BAZ2A,upstream_gene_variant,,ENST00000551759,;							MODERATE	1739/5718	Y580C	BAZ2A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000446880		CCDS44924.1			1	
MYO1G	0	LGGM	GRCh37	7	45004671	45004671	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	22	6	.	.	ENST00000258787.7:c.2399T>A	p.Leu800Gln	p.L800Q	ENST00000258787	NM_033054.2	800	cTg/cAg	0	1	1	UPI00001D747C	0	NA	ENST00000258787		ENSG00000136286	13880		28	1.935		HGNC	p.L800Q		MYO1G		SNV							ENST00000258787	protein_coding	getma.org/?cm=var&var=hg19,7,45004671,A,T&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359		L/Q		T	medium	2536/3267		getma.org/?cm=msa&ty=f&p=MYO1G_HUMAN&rb=695&re=813&var=L800Q	deleterious(0)				YES	MYO1G,missense_variant,p.Leu800Gln,ENST00000258787,NM_033054.2;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,downstream_gene_variant,,ENST00000480503,;MYO1G,downstream_gene_variant,,ENST00000464434,;							MODERATE	2399/3057	L800Q	MYO1G_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258787		CCDS34629.1			1	
ZP2	0	LGGM	GRCh37	16	21208926	21208926	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	15	7	.	.	ENST00000574002.1:c.2113G>T	p.Gly705Trp	p.G705W	ENST00000574002		705	Ggg/Tgg	0	1	1	UPI000013C45C	0	NA	ENST00000574002		ENSG00000103310	13188		22	0.975		HGNC	p.G705W		ZP2		SNV							ENST00000574002	protein_coding	getma.org/?cm=var&var=hg19,16,21208926,C,A&fts=all				G/W		A	low	2596/2749		getma.org/?cm=msa&ty=f&p=ZP2_HUMAN&rb=673&re=743&var=G705W	deleterious(0)				YES	ZP2,missense_variant,p.Gly705Trp,ENST00000574002,;ZP2,missense_variant,p.Gly705Trp,ENST00000219593,NM_003460.1;ZP2,missense_variant,p.Gly696Trp,ENST00000574091,;AF001550.7,non_coding_transcript_exon_variant,,ENST00000572747,;ZP2,downstream_gene_variant,,ENST00000573114,;							MODERATE	2113/2238	G705W	ZP2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000460971		CCDS10596.1			1	
CLIP2	0	LGGM	GRCh37	7	73790602	73790602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	16	7	.	.	ENST00000223398.6:c.1871A>T	p.His624Leu	p.H624L	ENST00000223398	NM_003388.4	624	cAc/cTc	0	1	1	UPI000007061E	0	NA	ENST00000223398		ENSG00000106665	2586		23	2.16		HGNC	p.H624L		CLIP2		SNV			1				ENST00000223398	protein_coding	getma.org/?cm=var&var=hg19,7,73790602,A,T&fts=all		hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF10		H/L		T	medium	2198/5563		getma.org/?cm=msa&ty=f&p=CLIP2_HUMAN&rb=487&re=686&var=H624L	deleterious(0)	Q7Z5B7_HUMAN			YES	CLIP2,missense_variant,p.His624Leu,ENST00000223398,NM_003388.4;CLIP2,missense_variant,p.His589Leu,ENST00000361545,NM_032421.2;CLIP2,missense_variant,p.His624Leu,ENST00000395060,;CLIP2,upstream_gene_variant,,ENST00000493166,;CLIP2,non_coding_transcript_exon_variant,,ENST00000487091,;CLIP2,upstream_gene_variant,,ENST00000482424,;							MODERATE	1871/3141	H624L	CLIP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000223398		CCDS5569.1			1	
FAM171B	0	LGGM	GRCh37	2	187626551	187626551	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	7	.	.	ENST00000304698.5:c.1482T>C	p.Pro494=	p.P494=	ENST00000304698	NM_177454.3	494	ccT/ccC	0	1	1	UPI0000161631	0		ENST00000304698		ENSG00000144369	29412		34			HGNC	p.P494P		FAM171B		SNV							ENST00000304698	protein_coding			Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2		P		C		1685/5819				A8K122_HUMAN			YES	FAM171B,synonymous_variant,p.=,ENST00000304698,NM_177454.3;							LOW	1482/2481		F171B_HUMAN			Transcript			.	ENSP00000304108		CCDS33347.1			1	
ENPP6	0	LGGM	GRCh37	4	185138832	185138832	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	7	.	.	ENST00000296741.2:c.141G>A	p.Leu47=	p.L47=	ENST00000296741	NM_153343.3	47	ttG/ttA	0	1	1	UPI0000073C89	0		ENST00000296741		ENSG00000164303	23409		19			HGNC	p.L47L		ENPP6		SNV							ENST00000296741	protein_coding			Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF66,Superfamily_domains:SSF53649		L		T		283/3936				D6R9P1_HUMAN			YES	ENPP6,synonymous_variant,p.=,ENST00000296741,NM_153343.3;ENPP6,intron_variant,,ENST00000512353,;ENPP6,non_coding_transcript_exon_variant,,ENST00000505644,;							LOW	141/1323		ENPP6_HUMAN			Transcript			.	ENSP00000296741		CCDS3834.1			1	
MAGI3	0	LGGM	GRCh37	1	114092153	114092153	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	18	8	.	.	ENST00000307546.9:c.333A>G	p.Lys111=	p.K111=	ENST00000307546	NM_001142782.1	111	aaA/aaG	0	1	1	UPI00004589AE	0		ENST00000307546		ENSG00000081026	29647		26			HGNC	p.K111K		MAGI3		SNV							ENST00000369617	protein_coding			Gene3D:2.30.42.10,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF10,Superfamily_domains:SSF50156		K		G		408/6430							YES	MAGI3,synonymous_variant,p.=,ENST00000369615,NM_152900.2;MAGI3,synonymous_variant,p.=,ENST00000307546,NM_001142782.1;MAGI3,synonymous_variant,p.=,ENST00000369617,;MAGI3,synonymous_variant,p.=,ENST00000369611,;MAGI3,non_coding_transcript_exon_variant,,ENST00000486456,;							LOW	333/4446		MAGI3_HUMAN			Transcript			.	ENSP00000304604		CCDS44196.1			1	
GLIS3	0	LGGM	GRCh37	9	3829444	3829444	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	7	8	.	.	ENST00000381971.3:c.2522C>A	p.Ser841Tyr	p.S841Y	ENST00000381971	NM_001042413.1	841	tCc/tAc	0	1		UPI00003675FE	0	NA	ENST00000324333		ENSG00000107249	28510		15	0.805		HGNC	p.S841Y		GLIS3		SNV			1				ENST00000381971	protein_coding	getma.org/?cm=var&var=hg19,9,3829444,G,T&fts=all		hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818		S/Y		T	low	2251/6667		getma.org/?cm=msa&ty=f&p=GLIS3_HUMAN&rb=516&re=773&var=S686Y	deleterious(0.01)	Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,missense_variant,p.Ser686Tyr,ENST00000324333,NM_152629.3;GLIS3,missense_variant,p.Ser841Tyr,ENST00000381971,NM_001042413.1;GLIS3,non_coding_transcript_exon_variant,,ENST00000461870,;							MODERATE	2057/2328	S686Y	GLIS3_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000325494		CCDS6451.1			1	
MYH7	0	LGGM	GRCh37	14	23887497	23887497	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	17	8	.	.	ENST00000355349.3:c.4091C>T	p.Ala1364Val	p.A1364V	ENST00000355349	NM_000257.2	1364	gCc/gTc	0	1	1	UPI000014019B	0	NA	ENST00000355349		ENSG00000092054	7577		25	2.95		HGNC	p.A1364V		MYH7		SNV			1				ENST00000355349	protein_coding	getma.org/?cm=var&var=hg19,14,23887497,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279		A/V		A	medium	4254/6087		getma.org/?cm=msa&ty=f&p=MYH7_HUMAN&rb=1068&re=1926&var=A1364V	tolerated(0.06)	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,missense_variant,p.Ala1364Val,ENST00000355349,NM_000257.2;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;							MODERATE	4091/5808	A1364V	MYH7_HUMAN			Transcript		possibly_damaging(0.518)	.	ENSP00000347507		CCDS9601.1			1	
CLEC16A	0	LGGM	GRCh37	16	11137900	11137900	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	34	8	.	.	ENST00000409790.1:c.1786A>G	p.Ser596Gly	p.S596G	ENST00000409790	NM_015226.2	596	Agt/Ggt	0	1	1	UPI0000253BAD	0	NA	ENST00000409790		ENSG00000038532	29013		42	1.995		HGNC	p.S578G	rs756292901	CLEC16A		SNV							ENST00000409552	protein_coding	getma.org/?cm=var&var=hg19,16,11137900,A,G&fts=all		hmmpanther:PTHR21481		S/G		G	medium	2016/6891	1.50E-05	getma.org/?cm=msa&ty=f&p=CL16A_HUMAN&rb=329&re=901&var=S596G	tolerated(0.07)				YES	CLEC16A,missense_variant,p.Ser596Gly,ENST00000409790,NM_015226.2;CLEC16A,missense_variant,p.Ser578Gly,ENST00000409552,NM_001243403.1;CLEC16A,non_coding_transcript_exon_variant,,ENST00000465491,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000463459,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000476025,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000463896,;CLEC16A,non_coding_transcript_exon_variant,,ENST00000487189,;							MODERATE	1786/3162	S596G	CL16A_HUMAN			Transcript		benign(0.008)	.	ENSP00000387122	8.27E-06	CCDS45409.1			1	
ALKBH1	0	LGGM	GRCh37	14	78140181	78140181	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	19	8	.	.	ENST00000216489.3:c.1144C>T	p.Arg382Trp	p.R382W	ENST00000216489	NM_006020.2	382	Cgg/Tgg	0	1	1	UPI000012585D	0	NA	ENST00000216489		ENSG00000100601	17911		27	0.895		HGNC	p.R382W	rs777022409	ALKBH1	6.20E-05	SNV							ENST00000216489	protein_coding	getma.org/?cm=var&var=hg19,14,78140181,G,A&fts=all				R/W		A	low	1160/2594	3.01E-05	getma.org/?cm=msa&ty=f&p=ALKB1_HUMAN&rb=345&re=389&var=R382W	deleterious_low_confidence(0.02)				YES	ALKBH1,missense_variant,p.Arg382Trp,ENST00000216489,NM_006020.2;ALKBH1,3_prime_UTR_variant,,ENST00000557057,;ALKBH1,downstream_gene_variant,,ENST00000555100,;	0.000116						MODERATE	1144/1170	R382W	ALKB1_HUMAN			Transcript		benign(0.15)	.	ENSP00000216489	3.29E-05	CCDS32127.1			1	
LYST	0	LGGM	GRCh37	1	235973209	235973209	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	41	8	.	.	ENST00000389794.3:c.909C>A	p.Ser303Arg	p.S303R	ENST00000389794		303	agC/agA	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		49	0.805		HGNC	p.S303R		LYST		SNV			1				ENST00000536965	protein_coding	getma.org/?cm=var&var=hg19,1,235973209,G,T&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60		S/R		T	low	1084/13471		getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=1&re=1457&var=S303R	tolerated(0.13)					LYST,missense_variant,p.Ser303Arg,ENST00000389794,;LYST,missense_variant,p.Ser303Arg,ENST00000389793,NM_000081.3;LYST,missense_variant,p.Ser303Arg,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;							MODERATE	909/11406	S303R	LYST_HUMAN			Transcript		benign(0.002)	.	ENSP00000374443		CCDS31062.1			1	
FOXO3	0	LGGM	GRCh37	6	108985262	108985262	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	15	8	.	.	ENST00000406360.1:c.1226A>T	p.Gln409Leu	p.Q409L	ENST00000406360	NM_001455.3	409	cAg/cTg	0	1		UPI000012ADEA	0	NA	ENST00000343882		ENSG00000118689	3821		23	2.475		HGNC	p.Q409L		FOXO3		SNV							ENST00000343882	protein_coding	getma.org/?cm=var&var=hg19,6,108985262,A,T&fts=all		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF129		Q/L		T	medium	1530/7308		getma.org/?cm=msa&ty=f&p=FOXO3_HUMAN&rb=263&re=462&var=Q409L	deleterious(0)	B4DVZ6_HUMAN				FOXO3,missense_variant,p.Gln409Leu,ENST00000406360,NM_001455.3;FOXO3,missense_variant,p.Gln409Leu,ENST00000343882,NM_201559.2;FOXO3,missense_variant,p.Gln189Leu,ENST00000540898,;							MODERATE	1226/2022	Q409L	FOXO3_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000339527		CCDS5068.1			1	
TMPRSS11B	0	LGGM	GRCh37	4	69097045	69097045	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	19	8	.	.	ENST00000332644.5:c.562G>A	p.Gly188Arg	p.G188R	ENST00000332644	NM_182502.3	188	Gga/Aga	0	1	1	UPI000013E249	0	getma.org/pdb.php?prot=TM11B_HUMAN&from=185&to=410&var=G188R	ENST00000332644		ENSG00000185873	25398		27	3.565		HGNC	p.G188R	COSM3605050	TMPRSS11B		SNV						1	ENST00000332644	protein_coding	getma.org/?cm=var&var=hg19,4,69097045,C,T&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Pfam_domain:PF00089,Gene3D:2.40.10.10,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494		G/R		T	high	724/2671		getma.org/?cm=msa&ty=f&p=TM11B_HUMAN&rb=185&re=410&var=G188R	deleterious(0.01)				YES	TMPRSS11B,missense_variant,p.Gly188Arg,ENST00000332644,NM_182502.3;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;RP11-646E20.6,upstream_gene_variant,,ENST00000514295,;					1		MODERATE	562/1251	G188R	TM11B_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000330475		CCDS3521.1			1	
HIVEP2	0	LGGM	GRCh37	6	143092479	143092479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	21	8	.	.	ENST00000367603.2:c.3397G>A	p.Glu1133Lys	p.E1133K	ENST00000367603	NM_006734.3	1133	Gag/Aag	0	1		UPI00004708DD	0	NA	ENST00000012134		ENSG00000010818	4921		29	1.355		HGNC	p.E1133K		HIVEP2		SNV							ENST00000367603	protein_coding	getma.org/?cm=var&var=hg19,6,143092479,C,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53		E/K		T	low	3942/9524		getma.org/?cm=msa&ty=f&p=ZEP2_HUMAN&rb=375&re=1775&var=E1133K	tolerated(0.53)	B4DKE9_HUMAN				HIVEP2,missense_variant,p.Glu1133Lys,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Glu1133Lys,ENST00000367604,;HIVEP2,missense_variant,p.Glu1133Lys,ENST00000012134,;							MODERATE	3397/7341	E1133K	ZEP2_HUMAN			Transcript		benign(0.146)	.	ENSP00000012134		CCDS43510.1			1	
TRBV9	0	LGGM	GRCh37	7	142239713	142239713	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	28	8	.	.	ENST00000390363.2:c.167A>T	p.Gln56Leu	p.Q56L	ENST00000390363		56	cAg/cTg	0	1	1	UPI0000115AB8	0		ENST00000390363		ENSG00000211716	12246		36			HGNC	p.Q56L		TRBV9		SNV							ENST00000390363	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268:SF21,hmmpanther:PTHR23268,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		Q/L		A		214/390			deleterious(0)	A0A580_HUMAN			YES	TRBV9,missense_variant,p.Gln56Leu,ENST00000390363,;TRBV5-3,downstream_gene_variant,,ENST00000390362,;							MODERATE	167/343					Transcript		probably_damaging(0.989)	.	ENSP00000374886					1	
SZT2	0	LGGM	GRCh37	1	43907472	43907472	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	11	9	.	.	ENST00000562955.1:c.7554C>T	p.Arg2518=	p.R2518=	ENST00000562955	NM_015284.3	2518	cgC/cgT	0	1	1	UPI0001E24F46	0		ENST00000562955		ENSG00000198198	29040		20			HGNC	p.R2518R	rs778200495	SZT2	0.000242	SNV			1				ENST00000562955	protein_coding			hmmpanther:PTHR14918		R		T		7554/12281							YES	SZT2,synonymous_variant,p.=,ENST00000562955,NM_015284.3;SZT2,synonymous_variant,p.=,ENST00000372442,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,downstream_gene_variant,,ENST00000470897,;							LOW	7554/10128		SZT2_HUMAN			Transcript			.	ENSP00000457168	3.29E-05	CCDS30694.2			1	
ARNT	0	LGGM	GRCh37	1	150789847	150789847	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	52	9	.	.	ENST00000358595.5:c.1568A>G	p.Asn523Ser	p.N523S	ENST00000358595	NM_178427.2	523	aAt/aGt	0	1	1	UPI0000030984	0	NA	ENST00000358595		ENSG00000143437	700		61	0.69		HGNC	p.N523S	rs753334631	ARNT	6.06E-05	SNV							ENST00000354396	protein_coding	getma.org/?cm=var&var=hg19,1,150789847,T,C&fts=all		hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF50		N/S		C	neutral	1769/4887		getma.org/?cm=msa&ty=f&p=ARNT_HUMAN&rb=462&re=661&var=N523S	tolerated(0.11)				YES	ARNT,missense_variant,p.Asn523Ser,ENST00000358595,NM_178427.2,NM_001197325.1,NM_001668.3;ARNT,missense_variant,p.Asn523Ser,ENST00000354396,NM_001286036.1;ARNT,missense_variant,p.Asn509Ser,ENST00000515192,NM_001286035.1;ARNT,missense_variant,p.Asn508Ser,ENST00000505755,;RNU6-1309P,upstream_gene_variant,,ENST00000363305,;ARNT,intron_variant,,ENST00000471844,;ARNT,downstream_gene_variant,,ENST00000510273,;							MODERATE	1568/2370	N523S	ARNT_HUMAN			Transcript		benign(0.001)	.	ENSP00000351407	8.24E-06	CCDS970.1			1	
NHLRC1	0	LGGM	GRCh37	6	18122016	18122016	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	9	.	.	ENST00000340650.3:c.822G>A	p.Gly274=	p.G274=	ENST00000340650	NM_198586.2	274	ggG/ggA	0	1	1	UPI0000198CE1	0		ENST00000340650		ENSG00000187566	21576		33			HGNC	p.G274G		NHLRC1		SNV			1				ENST00000340650	protein_coding			PROSITE_profiles:PS51125,hmmpanther:PTHR24104,Gene3D:2.120.10.30,Superfamily_domains:SSF101898		G		T		836/2134							YES	NHLRC1,synonymous_variant,p.=,ENST00000340650,NM_198586.2;							LOW	822/1188		NHLC1_HUMAN			Transcript			.	ENSP00000345464		CCDS4542.1			1	
TADA3	0	LGGM	GRCh37	3	9832959	9832959	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	14	9	.	.	ENST00000301964.2:c.192T>C	p.Leu64=	p.L64=	ENST00000301964	NM_006354.3	64	ctT/ctC	0	1	1	UPI000006F454	0		ENST00000301964		ENSG00000171148	19422		23			HGNC	p.L64L		TADA3		SNV							ENST00000301964	protein_coding			hmmpanther:PTHR13556,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		L		G		751/2355				C9JMS0_HUMAN			YES	TADA3,synonymous_variant,p.=,ENST00000343450,NM_133480.2;TADA3,synonymous_variant,p.=,ENST00000301964,NM_006354.3;TADA3,synonymous_variant,p.=,ENST00000440161,NM_001278270.1;TADA3,synonymous_variant,p.=,ENST00000439043,;ARPC4,upstream_gene_variant,,ENST00000397261,NM_005718.4;ARPC4-TTLL3,upstream_gene_variant,,ENST00000397256,NM_001198793.1;ARPC4,upstream_gene_variant,,ENST00000287613,NM_001024960.2;ARPC4,upstream_gene_variant,,ENST00000498623,NM_001024959.2;ARPC4,upstream_gene_variant,,ENST00000433034,NM_001198780.1;OGG1,downstream_gene_variant,,ENST00000426518,;ARPC4,upstream_gene_variant,,ENST00000485273,;TADA3,non_coding_transcript_exon_variant,,ENST00000492635,;TADA3,upstream_gene_variant,,ENST00000492103,;ARPC4,upstream_gene_variant,,ENST00000417500,;ARPC4,upstream_gene_variant,,ENST00000440787,;ARPC4-TTLL3,upstream_gene_variant,,ENST00000424442,;ARPC4,upstream_gene_variant,,ENST00000467289,;ARPC4-TTLL3,upstream_gene_variant,,ENST00000418163,;ARPC4,upstream_gene_variant,,ENST00000479956,;							LOW	192/1299		TADA3_HUMAN			Transcript			.	ENSP00000307684		CCDS2583.1			1	
C12orf55	0	LGGM	GRCh37	12	96927981	96927981	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	38	9	.	.	ENST00000524981.4:c.1681T>G	p.Tyr561Asp	p.Y561D	ENST00000524981		561	Tat/Gat	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		47	1.7		HGNC	p.Y513D		C12orf55		SNV							ENST00000553778	protein_coding	getma.org/?cm=var&var=hg19,12,96927981,T,G&fts=all		Pfam_domain:PF14858		Y/D		G	low	1704/9766		getma.org/?cm=msa&ty=f&p=CL055_HUMAN&rb=1&re=801&var=Y561D	tolerated(0.29)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Tyr561Asp,ENST00000524981,;C12orf55,missense_variant,p.Tyr561Asp,ENST00000298953,;C12orf55,missense_variant,p.Tyr513Asp,ENST00000553778,;							MODERATE	1681/9291	Y561D				Transcript		possibly_damaging(0.514)	.	ENSP00000431759					1	
BLM	0	LGGM	GRCh37	15	91310251	91310251	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	9	.	.	ENST00000355112.3:c.2305A>T	p.Lys769Ter	p.K769*	ENST00000355112	NM_000057.2	769	Aag/Tag	0	1	1	UPI00001269FA	0	NA	ENST00000355112		ENSG00000197299	1058		32	0		HGNC	p.K769X		BLM		SNV			1				ENST00000355112	protein_coding	getma.org/?cm=var&var=hg19,15,91310251,A,T&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF70,Pfam_domain:PF00270,TIGRFAM_domain:TIGR00614,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540		K/*		T	NA	2423/4555		NA					YES	BLM,stop_gained,p.Lys769Ter,ENST00000355112,NM_000057.2,NM_001287246.1;BLM,stop_gained,p.Lys769Ter,ENST00000560509,NM_001287247.1;BLM,splice_region_variant,,ENST00000560136,;BLM,splice_region_variant,,ENST00000559426,;BLM,splice_region_variant,,ENST00000559724,NM_001287248.1;							HIGH	2305/4254	K769*	BLM_HUMAN			Transcript			.	ENSP00000347232		CCDS10363.1			1	
IZUMO2	0	LGGM	GRCh37	19	50661555	50661555	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	33	9	.	.	ENST00000293405.3:c.466C>G	p.Pro156Ala	p.P156A	ENST00000293405	NM_152358.2	156	Ccc/Gcc	0	1	1	UPI00001D6939	0	NA	ENST00000293405		ENSG00000161652	28518		42	0.55		HGNC	p.P156A		IZUMO2		SNV							ENST00000293405	protein_coding	getma.org/?cm=var&var=hg19,19,50661555,G,C&fts=all		Pfam_domain:PF15005,hmmpanther:PTHR26374		P/A		C	neutral	467/728		getma.org/?cm=msa&ty=f&p=IZUM2_HUMAN&rb=1&re=180&var=P156A	tolerated(0.23)				YES	IZUMO2,missense_variant,p.Pro144Ala,ENST00000600293,;IZUMO2,missense_variant,p.Pro156Ala,ENST00000293405,NM_152358.2;IZUMO2,3_prime_UTR_variant,,ENST00000486050,;IZUMO2,downstream_gene_variant,,ENST00000594854,;							MODERATE	466/666	P156A	IZUM2_HUMAN			Transcript		benign(0)	.	ENSP00000293405		CCDS12792.2			1	
LY9	0	LGGM	GRCh37	1	160771685	160771685	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	9	.	.	ENST00000263285.6:c.454+1813G>A		*152*	ENST00000263285				0	1	1	UPI00001416AF	0		ENST00000263285		ENSG00000122224	6730		33			HGNC	p.R187H	rs779264969	LY9		SNV							ENST00000368039	protein_coding							A		-/2443	1.52E-05						YES	LY9,missense_variant,p.Arg187His,ENST00000368039,NM_001033667.2;LY9,intron_variant,,ENST00000368037,NM_001261456.1,NM_002348.3;LY9,intron_variant,,ENST00000263285,;LY9,intron_variant,,ENST00000368040,;LY9,intron_variant,,ENST00000392203,NM_001261457.1;LY9,intron_variant,,ENST00000368041,;LY9,intron_variant,,ENST00000341032,;LY9,intron_variant,,ENST00000471816,;LY9,intron_variant,,ENST00000480837,;LY9,downstream_gene_variant,,ENST00000485624,;LY9,3_prime_UTR_variant,,ENST00000490902,;LY9,downstream_gene_variant,,ENST00000474998,;							MODIFIER	-/1968		LY9_HUMAN			Transcript			.	ENSP00000263285	8.24E-06	CCDS30916.1			1	
BEND4	0	LGGM	GRCh37	4	42145471	42145471	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	25	9	.	.	ENST00000502486.1:c.1028T>A	p.Leu343His	p.L343H	ENST00000502486	NM_207406.3	343	cTc/cAc	0	1	1	UPI00015386AF	0	NA	ENST00000502486		ENSG00000188848	23815		34	0.805		HGNC	p.L339H		BEND4		SNV							ENST00000504360	protein_coding	getma.org/?cm=var&var=hg19,4,42145471,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Gene3D:1.20.5.170		L/H		T	low	1608/8765		getma.org/?cm=msa&ty=f&p=BEND4_HUMAN&rb=201&re=400&var=L343H	deleterious_low_confidence(0)				YES	BEND4,missense_variant,p.Leu343His,ENST00000502486,NM_207406.3;BEND4,missense_variant,p.Leu339His,ENST00000504360,NM_001159547.1;							MODERATE	1028/1605	L343H	BEND4_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000421169		CCDS47048.1			1	
TPH1	0	LGGM	GRCh37	11	18044437	18044437	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	9	.	.	ENST00000250018.2:c.1068C>T	p.Pro356=	p.P356=	ENST00000250018	NM_004179.2	356	ccC/ccT	0	1	1	UPI000013CC9C	0		ENST00000250018		ENSG00000129167	12008		36			HGNC	p.P356P		TPH1		SNV							ENST00000341556	protein_coding			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		P		A		1631/5325				B3VS10_HUMAN,B3VS05_HUMAN,B3VS00_HUMAN,B3VRZ5_HUMAN,B3VRZ0_HUMAN,B3VRY5_HUMAN,B3VRY0_HUMAN,B3VRX5_HUMAN,B3VRX0_HUMAN,B3VRW5_HUMAN			YES	TPH1,synonymous_variant,p.=,ENST00000250018,NM_004179.2;TPH1,synonymous_variant,p.=,ENST00000341556,;RP1-59M18.2,non_coding_transcript_exon_variant,,ENST00000525523,;TPH1,non_coding_transcript_exon_variant,,ENST00000525406,;TPH1,3_prime_UTR_variant,,ENST00000417164,;							LOW	1068/1335		TPH1_HUMAN			Transcript			.	ENSP00000250018		CCDS7829.1			1	
IFLTD1	0	LGGM	GRCh37	12	25671896	25671896	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	8	9	.	.	ENST00000458174.2:c.1022A>T	p.Lys341Met	p.K341M	ENST00000458174	NM_001145728.2	341	aAg/aTg	0	1		UPI000013DD03	0	NA	ENST00000282881		ENSG00000152936	26683		17	0.975		HGNC	p.K301M		IFLTD1		SNV							ENST00000413632	protein_coding	getma.org/?cm=var&var=hg19,12,25671896,T,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF66		K/M		A	low	1109/1718		getma.org/?cm=msa&ty=f&p=ILFT1_HUMAN&rb=258&re=388&var=K320M	tolerated(0.07)	H0YFE3_HUMAN,F5H8G2_HUMAN,F5H719_HUMAN,F5H5I3_HUMAN,F5H3Q3_HUMAN				IFLTD1,missense_variant,p.Lys223Met,ENST00000539744,NM_001256266.1;IFLTD1,missense_variant,p.Lys320Met,ENST00000282881,NM_152590.3;IFLTD1,missense_variant,p.Lys341Met,ENST00000458174,NM_001145728.2;IFLTD1,missense_variant,p.Lys301Met,ENST00000413632,NM_001145729.1;IFLTD1,missense_variant,p.Lys257Met,ENST00000445693,NM_001145727.2;IFLTD1,missense_variant,p.Lys95Met,ENST00000543629,;IFLTD1,missense_variant,p.Lys37Met,ENST00000539523,;IFLTD1,downstream_gene_variant,,ENST00000545543,;							MODERATE	959/1167	K320M	ILFT1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000282881		CCDS8704.1			1	
DENND2A	0	LGGM	GRCh37	7	140301975	140301975	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	48	10	.	.	ENST00000275884.6:c.223C>G	p.Leu75Val	p.L75V	ENST00000275884		75	Ctg/Gtg	0	1	1	UPI00001C1E63	0	NA	ENST00000275884		ENSG00000146966	22212		58	1.1		HGNC	p.L75V		DENND2A		SNV							ENST00000461883	protein_coding	getma.org/?cm=var&var=hg19,7,140301975,G,C&fts=all				L/V		C	low	641/3735		getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=1&re=200&var=L75V	tolerated(0.58)	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN			YES	DENND2A,missense_variant,p.Leu75Val,ENST00000275884,;DENND2A,missense_variant,p.Leu75Val,ENST00000492720,;DENND2A,missense_variant,p.Leu75Val,ENST00000496613,;DENND2A,missense_variant,p.Leu75Val,ENST00000537639,NM_015689.3;DENND2A,missense_variant,p.Leu75Val,ENST00000491728,;DENND2A,missense_variant,p.Leu75Val,ENST00000477488,;DENND2A,missense_variant,p.Leu75Val,ENST00000489552,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,missense_variant,p.Leu75Val,ENST00000461883,;							MODERATE	223/3030	L75V	DEN2A_HUMAN			Transcript		benign(0.001)	.	ENSP00000275884		CCDS43659.1			1	
CCDC60	0	LGGM	GRCh37	12	119916995	119916995	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	10	.	.	ENST00000327554.2:c.438C>A	p.Thr146=	p.T146=	ENST00000327554	NM_178499.3	146	acC/acA	0	1	1	UPI000019906E	0		ENST00000327554		ENSG00000183273	28610		20			HGNC	p.T146T		CCDC60		SNV							ENST00000327554	protein_coding					T		A		903/2450				F5H5H4_HUMAN			YES	CCDC60,synonymous_variant,p.=,ENST00000327554,NM_178499.3;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;CCDC60,non_coding_transcript_exon_variant,,ENST00000546345,;							LOW	438/1653		CCD60_HUMAN			Transcript			.	ENSP00000333374		CCDS9190.1			1	
POU1F1	0	LGGM	GRCh37	3	87311260	87311260	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	36	10	.	.	ENST00000344265.3:c.643A>C	p.Ile215Leu	p.I215L	ENST00000344265	NM_001122757.1	215	Ata/Cta	0	1		UPI0000131B22	0	getma.org/pdb.php?prot=PIT1_HUMAN&from=124&to=198&var=I189L	ENST00000350375		ENSG00000064835	9210		46	0.205		HGNC	p.I215L		POU1F1		SNV			1				ENST00000344265	protein_coding	getma.org/?cm=var&var=hg19,3,87311260,T,G&fts=all		PROSITE_profiles:PS51179,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF82,Gene3D:1.10.260.40,Pfam_domain:PF00157,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028		I/L		G	neutral	690/1491		getma.org/?cm=msa&ty=f&p=PIT1_HUMAN&rb=124&re=198&var=I189L	tolerated(1)					POU1F1,missense_variant,p.Ile189Leu,ENST00000350375,NM_000306.2;POU1F1,missense_variant,p.Ile215Leu,ENST00000344265,NM_001122757.1;POU1F1,missense_variant,p.Ile114Leu,ENST00000561167,;POU1F1,intron_variant,,ENST00000560656,;							MODERATE	565/876	I189L	PIT1_HUMAN			Transcript		benign(0.432)	.	ENSP00000263781		CCDS2919.1			1	
XIRP2	0	LGGM	GRCh37	2	168102697	168102697	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	10	.	.	ENST00000409195.1:c.4795G>T	p.Glu1599Ter	p.E1599*	ENST00000409195	NM_152381.5	1599	Gaa/Taa	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		34	0		HGNC	p.E1377X		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168102697,G,T&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		E/*		T	NA	4884/12675		NA		J3KNB1_HUMAN			YES	XIRP2,stop_gained,p.Glu1599Ter,ENST00000409195,NM_152381.5;XIRP2,stop_gained,p.Glu1599Ter,ENST00000295237,;XIRP2,stop_gained,p.Glu1377Ter,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;							HIGH	4795/10650	E1424*				Transcript			.	ENSP00000386840		CCDS42769.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37454060	37454060	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	66	10	.	.	ENST00000361713.1:c.1873G>T	p.Glu625Ter	p.E625*	ENST00000361713	NM_052997.2	625	Gaa/Taa	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		76	0		HGNC	p.E625X		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37454060,G,T&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11		E/*		T	NA	1972/4405		NA		R4GNA2_HUMAN			YES	ANKRD30A,stop_gained,p.Glu625Ter,ENST00000374660,;ANKRD30A,stop_gained,p.Glu625Ter,ENST00000602533,;ANKRD30A,stop_gained,p.Glu625Ter,ENST00000361713,NM_052997.2;							HIGH	1873/4026	E681*	AN30A_HUMAN			Transcript			.	ENSP00000354432		CCDS7193.1			1	
NEK4	0	LGGM	GRCh37	3	52771647	52771647	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	38	11	.	.	ENST00000233027.5:c.2388G>A	p.Glu796=	p.E796=	ENST00000233027	NM_001193533.1	796	gaG/gaA	0	1	1	UPI000013C96A	0		ENST00000233027		ENSG00000114904	11399		49			HGNC	p.E707E		NEK4		SNV							ENST00000461689	protein_coding					E		T		2591/3722							YES	NEK4,synonymous_variant,p.=,ENST00000233027,NM_001193533.1,NM_003157.4;NEK4,synonymous_variant,p.=,ENST00000383721,;NEK4,synonymous_variant,p.=,ENST00000535191,;NEK4,synonymous_variant,p.=,ENST00000461689,;RP5-966M1.5,downstream_gene_variant,,ENST00000603259,;							LOW	2388/2526		NEK4_HUMAN			Transcript			.	ENSP00000233027		CCDS2863.1			1	
LAIR1	0	LGGM	GRCh37	19	54872848	54872848	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	51	11	.	.	ENST00000391742.2:c.71-32G>T		*24*	ENST00000391742				0	1	1	UPI000011A058	0		ENST00000391742		ENSG00000167613	6477		62			HGNC	p.D25Y		LAIR1		SNV							ENST00000436513	protein_coding							A		-/1610							YES	LAIR1,intron_variant,,ENST00000391743,;LAIR1,intron_variant,,ENST00000434277,NM_002287.3;LAIR1,intron_variant,,ENST00000391742,;LAIR1,intron_variant,,ENST00000313038,;LAIR1,intron_variant,,ENST00000348231,NM_021706.2;LAIR1,intron_variant,,ENST00000474878,;LAIR1,intron_variant,,ENST00000438193,;LAIR1,upstream_gene_variant,,ENST00000444687,;LAIR1,splice_region_variant,,ENST00000484116,;LAIR1,intron_variant,,ENST00000463489,;LAIR1,intron_variant,,ENST00000480122,;LAIR1,intron_variant,,ENST00000468656,;LAIR1,missense_variant,p.Asp25Tyr,ENST00000436513,;LAIR1,missense_variant,p.Asp25Tyr,ENST00000420483,;LAIR1,splice_region_variant,,ENST00000427131,;LAIR1,intron_variant,,ENST00000440716,;LAIR1,intron_variant,,ENST00000467269,;LAIR1,intron_variant,,ENST00000418556,;LAIR1,intron_variant,,ENST00000423853,;LAIR1,intron_variant,,ENST00000391741,;LAIR1,upstream_gene_variant,,ENST00000475389,;LAIR1,upstream_gene_variant,,ENST00000460312,;LAIR1,upstream_gene_variant,,ENST00000498511,;							MODIFIER	-/864		LAIR1_HUMAN			Transcript			.	ENSP00000375622		CCDS12891.1			1	
SLC17A8	0	LGGM	GRCh37	12	100751226	100751226	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	59	11	.	.	ENST00000323346.5:c.57A>T	p.Glu19Asp	p.E19D	ENST00000323346	NM_001145288.1	19	gaA/gaT	0	1	1	UPI0000073B9B	0	NA	ENST00000323346		ENSG00000179520	20151		70	1.345		HGNC	p.E19D		SLC17A8		SNV			1				ENST00000392989	protein_coding	getma.org/?cm=var&var=hg19,12,100751226,A,T&fts=all		hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207		E/D		T	low	370/3983		getma.org/?cm=msa&ty=f&p=VGLU3_HUMAN&rb=1&re=80&var=E19D	tolerated(0.21)				YES	SLC17A8,missense_variant,p.Glu19Asp,ENST00000323346,NM_001145288.1,NM_139319.2;SLC17A8,missense_variant,p.Glu19Asp,ENST00000392989,;							MODERATE	57/1770	E19D	VGLU3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000316909		CCDS9077.1			1	
TTC3	0	LGGM	GRCh37	21	38568114	38568114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	32	11	.	.	ENST00000399017.2:c.5356G>T	p.Ala1786Ser	p.A1786S	ENST00000399017	NM_003316.3	1786	Gct/Tct	0	1		UPI00001B043E	0	NA	ENST00000354749		ENSG00000182670	12393		43	0.665		HGNC	p.A1786S		TTC3		SNV							ENST00000355666	protein_coding	getma.org/?cm=var&var=hg19,21,38568114,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR17550		A/S		T	neutral	6824/9084		getma.org/?cm=msa&ty=f&p=TTC3_HUMAN&rb=741&re=1844&var=A1786S	tolerated(0.32)	E9PMS7_HUMAN,E9PMP8_HUMAN				TTC3,missense_variant,p.Ala1786Ser,ENST00000399017,NM_003316.3;TTC3,missense_variant,p.Ala1786Ser,ENST00000354749,;TTC3,missense_variant,p.Ala1786Ser,ENST00000355666,NM_001001894.1;TTC3,missense_variant,p.Ala78Ser,ENST00000428693,;TTC3-AS1,upstream_gene_variant,,ENST00000424733,;TTC3,non_coding_transcript_exon_variant,,ENST00000479930,;TTC3,non_coding_transcript_exon_variant,,ENST00000488522,;TTC3,non_coding_transcript_exon_variant,,ENST00000476784,;							MODERATE	5356/6078	A1786S	TTC3_HUMAN			Transcript		benign(0.011)	.	ENSP00000346791		CCDS13651.1			1	
XIRP2	0	LGGM	GRCh37	2	168103658	168103658	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	11	.	.	ENST00000409195.1:c.5756A>T	p.Lys1919Ile	p.K1919I	ENST00000409195	NM_152381.5	1919	aAa/aTa	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		21	0		HGNC	p.K1697I		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168103658,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1,Low_complexity_(Seg):seg		K/I		T	neutral	5845/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=K1744I		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Lys1919Ile,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Lys1919Ile,ENST00000295237,;XIRP2,missense_variant,p.Lys1697Ile,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;							MODERATE	5756/10650	K1744I				Transcript		benign(0.076)	.	ENSP00000386840		CCDS42769.1			1	
KIF21B	0	LGGM	GRCh37	1	200973981	200973981	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	11	.	.	ENST00000422435.2:c.813T>A	p.Phe271Leu	p.F271L	ENST00000422435	NM_001252100.1	271	ttT/ttA	0	1	1	UPI0000153E7C	0	getma.org/pdb.php?prot=KI21B_HUMAN&from=14&to=370&var=F271L	ENST00000422435		ENSG00000116852	29442		34	-0.075		HGNC	p.F271L		KIF21B		SNV							ENST00000360529	protein_coding	getma.org/?cm=var&var=hg19,1,200973981,A,T&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_patterns:PS00411,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF335,SMART_domains:SM00129,Superfamily_domains:SSF52540		F/L		T	neutral	1130/5519		getma.org/?cm=msa&ty=f&p=KI21B_HUMAN&rb=14&re=370&var=F271L	deleterious(0)				YES	KIF21B,missense_variant,p.Phe271Leu,ENST00000332129,NM_001252103.1,NM_001252102.1,NM_017596.3;KIF21B,missense_variant,p.Phe271Leu,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Phe271Leu,ENST00000461742,;KIF21B,missense_variant,p.Phe271Leu,ENST00000360529,;KIF21B,non_coding_transcript_exon_variant,,ENST00000534043,;							MODERATE	813/4914	F271L	KI21B_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000411831		CCDS58056.1			1	
PBX1	0	LGGM	GRCh37	1	164769046	164769046	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	45	11	.	.	ENST00000420696.2:c.621G>A	p.Lys207=	p.K207=	ENST00000420696	NM_002585.3	207	aaG/aaA	0	1	1	UPI00000213E1	0		ENST00000420696		ENSG00000185630	8632		56			HGNC	p.K207K		PBX1		SNV			1				ENST00000559240	protein_coding			Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58		K		A		809/6636				Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN			YES	PBX1,synonymous_variant,p.=,ENST00000420696,NM_002585.3,NM_001204963.1,NM_001204961.1;PBX1,synonymous_variant,p.=,ENST00000560641,;PBX1,synonymous_variant,p.=,ENST00000367897,;PBX1,synonymous_variant,p.=,ENST00000540246,;PBX1,synonymous_variant,p.=,ENST00000540236,;PBX1,synonymous_variant,p.=,ENST00000401534,;PBX1,synonymous_variant,p.=,ENST00000559240,;PBX1,synonymous_variant,p.=,ENST00000559578,;PBX1,synonymous_variant,p.=,ENST00000558837,;PBX1,synonymous_variant,p.=,ENST00000482110,;PBX1,downstream_gene_variant,,ENST00000559560,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;							LOW	621/1293		PBX1_HUMAN			Transcript			.	ENSP00000405890		CCDS1246.1			1	
EDAR	0	LGGM	GRCh37	2	109522798	109522798	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	11	11	.	.	ENST00000258443.2:c.990C>T	p.Leu330=	p.L330=	ENST00000258443	NM_022336.3	330	ctC/ctT	0	1	1	UPI0000129BC4	0		ENST00000258443		ENSG00000135960	2895		22			HGNC	p.L362L	rs751322328	EDAR		SNV			1				ENST00000376651	protein_coding			hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF9		L		A		1421/4214	4.50E-05						YES	EDAR,synonymous_variant,p.=,ENST00000409271,;EDAR,synonymous_variant,p.=,ENST00000376651,;EDAR,synonymous_variant,p.=,ENST00000258443,NM_022336.3;							LOW	990/1347		EDAR_HUMAN			Transcript			.	ENSP00000258443	2.47E-05	CCDS2081.1			1	
DNAH5	0	LGGM	GRCh37	5	13841047	13841047	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	29	11	.	.	ENST00000265104.4:c.5677C>G	p.His1893Asp	p.H1893D	ENST00000265104	NM_001369.2	1893	Cat/Gat	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=1813&to=1941&var=H1893D	ENST00000265104		ENSG00000039139	2950		40	1.505		HGNC	p.H1893D		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13841047,G,C&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		H/D		C	low	5782/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1813&re=1941&var=H1893D		O95496_HUMAN			YES	DNAH5,missense_variant,p.His1893Asp,ENST00000265104,NM_001369.2;							MODERATE	5677/13875	H1893D	DYH5_HUMAN			Transcript		benign(0.227)	.	ENSP00000265104		CCDS3882.1			1	
MPP5	0	LGGM	GRCh37	14	67779301	67779301	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	14	11	.	.	ENST00000261681.4:c.1099C>T	p.Arg367Ter	p.R367*	ENST00000261681	NM_022474.3	367	Cga/Tga	0	1	1	UPI0000046FB9	0	NA	ENST00000261681		ENSG00000072415	18669		25	0		HGNC	p.R333X		MPP5		SNV							ENST00000555925	protein_coding	getma.org/?cm=var&var=hg19,14,67779301,C,T&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR23122:SF32,hmmpanther:PTHR23122,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044		R/*		T	NA	1760/5552		NA		G3V2H1_HUMAN			YES	MPP5,stop_gained,p.Arg367Ter,ENST00000261681,NM_022474.3;MPP5,stop_gained,p.Arg333Ter,ENST00000555925,NM_001256550.1;ATP6V1D,intron_variant,,ENST00000553974,;ATP6V1D,intron_variant,,ENST00000554087,;							HIGH	1099/2028	R367*	MPP5_HUMAN			Transcript			.	ENSP00000261681		CCDS9779.1			1	
CATSPER1	0	LGGM	GRCh37	11	65786325	65786325	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	17	11	.	.	ENST00000312106.5:c.2174A>T	p.Glu725Val	p.E725V	ENST00000312106	NM_053054.3	725	gAg/gTg	0	1	1	UPI000045651C	0	NA	ENST00000312106		ENSG00000175294	17116		28	1.04		HGNC	p.E725V		CATSPER1		SNV			1				ENST00000312106	protein_coding	getma.org/?cm=var&var=hg19,11,65786325,T,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF32		E/V		A	low	2312/2619		getma.org/?cm=msa&ty=f&p=CTSR1_HUMAN&rb=671&re=780&var=E725V	tolerated(0.06)				YES	CATSPER1,missense_variant,p.Glu725Val,ENST00000312106,NM_053054.3;CATSPER1,non_coding_transcript_exon_variant,,ENST00000529244,;							MODERATE	2174/2343	E725V	CTSR1_HUMAN			Transcript		benign(0.189)	.	ENSP00000309052		CCDS8127.1			1	
TMEM132A	0	LGGM	GRCh37	11	60696113	60696113	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	11	.	.	ENST00000005286.4:c.547G>A	p.Ala183Thr	p.A183T	ENST00000005286	NM_178031.2	183	Gcc/Acc	0	1		UPI0000190978	0	NA	ENST00000453848		ENSG00000006118	31092		35	0.585		HGNC	p.A183T	rs768321505	TMEM132A		SNV				0.000115			ENST00000453848	protein_coding	getma.org/?cm=var&var=hg19,11,60696113,G,A&fts=all		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF6		A/T		A	neutral	705/3346		getma.org/?cm=msa&ty=f&p=T132A_HUMAN&rb=1&re=1021&var=A183T	tolerated(0.08)	F5H765_HUMAN				TMEM132A,missense_variant,p.Ala183Thr,ENST00000005286,NM_178031.2,NM_017870.3;TMEM132A,missense_variant,p.Ala183Thr,ENST00000453848,;TMEM132A,5_prime_UTR_variant,,ENST00000544065,;TMEM132A,upstream_gene_variant,,ENST00000536409,;RP11-881M11.4,upstream_gene_variant,,ENST00000543907,;TMEM132A,downstream_gene_variant,,ENST00000543732,;TMEM132A,downstream_gene_variant,,ENST00000540276,;TMEM132A,downstream_gene_variant,,ENST00000537110,;TMEM132A,upstream_gene_variant,,ENST00000539899,;TMEM132A,downstream_gene_variant,,ENST00000537065,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000544098,;TMEM132A,non_coding_transcript_exon_variant,,ENST00000534983,;							MODERATE	547/3072	A183T	T132A_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000405823	8.27E-06	CCDS44618.1			1	
PDSS1	0	LGGM	GRCh37	10	26994267	26994267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	37	11	.	.	ENST00000376215.5:c.280G>T	p.Asp94Tyr	p.D94Y	ENST00000376215	NM_014317.3	94	Gat/Tat	0	1	1	UPI000013DB22	0	NA	ENST00000376215		ENSG00000148459	17759		48	1.955		HGNC	p.D94Y		PDSS1		SNV			1				ENST00000376203	protein_coding	getma.org/?cm=var&var=hg19,10,26994267,G,T&fts=all		Gene3D:1.10.600.10,hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF47,Superfamily_domains:SSF48576		D/Y		T	medium	333/1626		getma.org/?cm=msa&ty=f&p=DPS1_HUMAN&rb=1&re=119&var=D94Y	deleterious(0)				YES	PDSS1,missense_variant,p.Asp94Tyr,ENST00000376215,NM_014317.3;PDSS1,missense_variant,p.Asp94Tyr,ENST00000376203,;PDSS1,non_coding_transcript_exon_variant,,ENST00000473224,;							MODERATE	280/1248	D94Y	DPS1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000365388		CCDS31168.1			1	
NEK4	0	LGGM	GRCh37	3	52771646	52771646	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	39	11	.	.	ENST00000233027.5:c.2389C>T	p.Gln797Ter	p.Q797*	ENST00000233027	NM_001193533.1	797	Cag/Tag	0	1	1	UPI000013C96A	0	NA	ENST00000233027		ENSG00000114904	11399		50	0		HGNC	p.Q708X		NEK4		SNV							ENST00000461689	protein_coding	getma.org/?cm=var&var=hg19,3,52771646,G,A&fts=all				Q/*		A	NA	2592/3722		NA					YES	NEK4,stop_gained,p.Gln797Ter,ENST00000233027,NM_001193533.1,NM_003157.4;NEK4,stop_gained,p.Gln751Ter,ENST00000383721,;NEK4,stop_gained,p.Gln708Ter,ENST00000535191,;NEK4,stop_gained,p.Gln708Ter,ENST00000461689,;RP5-966M1.5,downstream_gene_variant,,ENST00000603259,;							HIGH	2389/2526	Q797*	NEK4_HUMAN			Transcript			.	ENSP00000233027		CCDS2863.1			1	
KMT2D	0	LGGM	GRCh37	12	49433641	49433641	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	18	12	.	.	ENST00000301067.7:c.7912A>G	p.Ile2638Val	p.I2638V	ENST00000301067	NM_003482.3	2638	Atc/Gtc	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		30	0.345		HGNC	p.I2638V		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49433641,T,C&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324		I/V		C	neutral	7912/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=2478&re=2677&var=I2638V		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Ile2638Val,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;							MODERATE	7912/16614	I2638V	KMT2D_HUMAN			Transcript		benign(0.018)	.	ENSP00000301067		CCDS44873.1			1	
OVCH1	0	LGGM	GRCh37	12	29624889	29624889	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	12	.	.	ENST00000318184.5:c.1702C>T	p.Pro568Ser	p.P568S	ENST00000318184	NM_183378.2	568	Ccc/Tcc	0	1	1	UPI000040640A	0	NA	ENST00000318184		ENSG00000187950	23080		36	0		HGNC	p.P568S	rs760367604	OVCH1	6.91E-05	SNV							ENST00000318184	protein_coding	getma.org/?cm=var&var=hg19,12,29624889,G,A&fts=all		hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF64,Superfamily_domains:SSF50494		P/S		A	neutral	1702/3405		getma.org/?cm=msa&ty=f&p=OVCH1_HUMAN&rb=529&re=574&var=P568S	tolerated(0.08)				YES	OVCH1,missense_variant,p.Pro568Ser,ENST00000318184,NM_183378.2;OVCH1-AS1,intron_variant,,ENST00000551108,;OVCH1-AS1,intron_variant,,ENST00000549411,;							MODERATE	1702/3405	P568S	OVCH1_HUMAN			Transcript		benign(0.148)	.	ENSP00000326708	8.28E-06				1	
PSMD8	0	LGGM	GRCh37	19	38869972	38869972	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	31	12	.	.	ENST00000215071.4:c.629C>T	p.Thr210Met	p.T210M	ENST00000215071	NM_002812.4	210	aCg/aTg	0	1	1	UPI000059D712	0	NA	ENST00000215071		ENSG00000099341	9566		43	1.355		HGNC	p.T43M	COSM3388949,COSM3388948	PSMD8		SNV						1,1	ENST00000591250	protein_coding	getma.org/?cm=var&var=hg19,19,38869972,C,T&fts=all		Pfam_domain:PF10075,hmmpanther:PTHR12387		T/M		T	low	695/1553		getma.org/?cm=msa&ty=f&p=PSMD8_HUMAN&rb=186&re=327&var=T210M	deleterious(0.01)	R4GMR5_HUMAN,K7ERW6_HUMAN			YES	PSMD8,missense_variant,p.Thr43Met,ENST00000592035,;PSMD8,missense_variant,p.Thr210Met,ENST00000215071,NM_002812.4;PSMD8,missense_variant,p.Thr147Met,ENST00000602911,;PSMD8,missense_variant,p.Thr154Met,ENST00000592561,;PSMD8,missense_variant,p.Thr43Met,ENST00000591250,;PSMD8,intron_variant,,ENST00000585598,;GGN,downstream_gene_variant,,ENST00000334928,NM_152657.3;PSMD8,non_coding_transcript_exon_variant,,ENST00000592001,;PSMD8,non_coding_transcript_exon_variant,,ENST00000591216,;PSMD8,upstream_gene_variant,,ENST00000590331,;					1,1		MODERATE	629/1053	T210M	PSMD8_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000215071		CCDS12515.2			1	
PNPLA7	0	LGGM	GRCh37	9	140417293	140417293	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	32	12	.	.	ENST00000406427.1:c.764A>T	p.Tyr255Phe	p.Y255F	ENST00000406427	NM_001098537.1	255	tAc/tTc	0	1		UPI000022D7A4	0	NA	ENST00000277531		ENSG00000130653	24768		44	1.35		HGNC	p.Y230F		PNPLA7		SNV							ENST00000277531	protein_coding	getma.org/?cm=var&var=hg19,9,140417293,T,A&fts=all		PROSITE_profiles:PS50042,hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF23,Pfam_domain:PF00027,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206		Y/F		A	low	876/4581		getma.org/?cm=msa&ty=f&p=PLPL7_HUMAN&rb=163&re=260&var=Y230F	tolerated(0.14)					PNPLA7,missense_variant,p.Tyr255Phe,ENST00000406427,NM_001098537.1;PNPLA7,missense_variant,p.Tyr230Phe,ENST00000277531,NM_152286.3;PNPLA7,missense_variant,p.Tyr221Phe,ENST00000434090,;PNPLA7,3_prime_UTR_variant,,ENST00000491019,;							MODERATE	689/3954	Y230F	PLPL7_HUMAN			Transcript		benign(0.4)	.	ENSP00000277531		CCDS7045.1			1	
PRKCB	0	LGGM	GRCh37	16	24183600	24183600	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	6	12	.	.	ENST00000303531.7:c.1249T>C	p.Tyr417His	p.Y417H	ENST00000303531	NM_002738.6	417	Tac/Cac	0	1		UPI000012DF67	0	getma.org/pdb.php?prot=KPCB_HUMAN&from=342&to=600&var=Y417H	ENST00000321728		ENSG00000166501	9395		18	2.09		HGNC	p.Y417H		PRKCB		SNV							ENST00000321728	protein_coding	getma.org/?cm=var&var=hg19,16,24183600,T,C&fts=all		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		Y/H		C	medium	1424/2689		getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=342&re=600&var=Y417H	deleterious(0.03)	I3L1Z0_HUMAN				PRKCB,missense_variant,p.Tyr417His,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Tyr417His,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Tyr64His,ENST00000472066,;PRKCB,non_coding_transcript_exon_variant,,ENST00000463752,;PRKCB,upstream_gene_variant,,ENST00000487674,;							MODERATE	1249/2016	Y417H	KPCB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318315		CCDS10618.1			1	
IGHV3-15	0	LGGM	GRCh37	14	106610313	106610313	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	34	12	.	.	ENST00000390603.2:c.357A>T	p.Thr119=	p.T119=	ENST00000390603		119	acA/acT	0	1	1	UPI0000116480	0		ENST00000390603		ENSG00000211943	5582		46			HGNC	p.T119T		IGHV3-15		SNV							ENST00000390603	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,SMART_domains:SM00406		T		A		437/437							YES	IGHV3-15,synonymous_variant,p.=,ENST00000390603,;							LOW	357/357					Transcript			.	ENSP00000375012					1	
ANKRD62	0	LGGM	GRCh37	18	12122318	12122318	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	29	12	.	.	ENST00000587848.2:c.1257G>A	p.Ser419=	p.S419=	ENST00000587848		419	tcG/tcA	0	1	1	UPI0000DD848C	0		ENST00000587848		ENSG00000181626	35241		41			HGNC	p.S141S		ANKRD62		SNV							ENST00000418274	protein_coding			hmmpanther:PTHR24147		S		A		1422/2919				K7EQA3_HUMAN,J3QTZ2_HUMAN			YES	ANKRD62,synonymous_variant,p.=,ENST00000314074,NM_001277333.1;ANKRD62,synonymous_variant,p.=,ENST00000587848,;ANKRD62,non_coding_transcript_exon_variant,,ENST00000418274,;							LOW	1257/2754		ANR62_HUMAN			Transcript			.	ENSP00000467740		CCDS67439.1			1	
OR1L4	0	LGGM	GRCh37	9	125487028	125487028	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	50	12	.	.	ENST00000259466.1:c.760G>A	p.Gly254Arg	p.G254R	ENST00000259466	NM_001005235.1	254	Ggg/Agg	0	1	1	UPI0000061E7A	0	NA	ENST00000259466		ENSG00000136939	8216		62	3.28		HGNC	p.G254R		OR1L4		SNV							ENST00000259466	protein_coding	getma.org/?cm=var&var=hg19,9,125487028,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF194,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		G/R		A	medium	760/936		getma.org/?cm=msa&ty=f&p=OR1L4_HUMAN&rb=141&re=284&var=G254R	deleterious(0)				YES	OR1L4,missense_variant,p.Gly254Arg,ENST00000259466,NM_001005235.1;							MODERATE	760/936	G254R	OR1L4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000259466		CCDS35129.1			1	
DHX8	0	LGGM	GRCh37	17	41566815	41566815	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	13	.	.	ENST00000262415.3:c.149-2A>T		p.X50_splice	ENST00000262415	NM_004941.1			0	1	1	UPI00001290D9	0		ENST00000262415		ENSG00000067596	2749		25			HGNC	-		DHX8		SNV							ENST00000540306	protein_coding							T		-/5558							YES	DHX8,splice_acceptor_variant,,ENST00000262415,NM_004941.1;DHX8,splice_acceptor_variant,,ENST00000540306,;DHX8,splice_acceptor_variant,,ENST00000605777,;DHX8,intron_variant,,ENST00000592258,;DHX8,upstream_gene_variant,,ENST00000587044,;							HIGH	149/3663		DHX8_HUMAN			Transcript			.	ENSP00000262415		CCDS11464.1			1	
DOCK7	0	LGGM	GRCh37	1	62939689	62939689	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	8	13	.	.	ENST00000340370.5:c.6083A>G	p.Asn2028Ser	p.N2028S	ENST00000340370	NM_033407.3	2028	aAt/aGt	0	1	1	UPI000044FEA9	0	getma.org/pdb.php?prot=DOCK7_HUMAN&from=1930&to=2107&var=N2059S	ENST00000340370		ENSG00000116641	19190		21	2.74		HGNC	p.N2048S		DOCK7		SNV			1				ENST00000251157	protein_coding	getma.org/?cm=var&var=hg19,1,62939689,T,C&fts=all		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317,Pfam_domain:PF06920		N/S		C	medium	6101/6864		getma.org/?cm=msa&ty=f&p=DOCK7_HUMAN&rb=1930&re=2107&var=N2059S	deleterious(0)				YES	DOCK7,missense_variant,p.Asn2048Ser,ENST00000251157,NM_001272001.1,NM_001271999.1;DOCK7,missense_variant,p.Asn2028Ser,ENST00000340370,NM_033407.3,NM_001272000.1;DOCK7,missense_variant,p.Asn1222Ser,ENST00000454575,;DOCK7,non_coding_transcript_exon_variant,,ENST00000489185,;DOCK7,downstream_gene_variant,,ENST00000467758,;							MODERATE	6083/6330	N2059S	DOCK7_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000340742		CCDS30734.1			1	
USP34	0	LGGM	GRCh37	2	61450245	61450245	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	13	.	.	ENST00000398571.2:c.7699T>C	p.Cys2567Arg	p.C2567R	ENST00000398571	NM_014709.3	2567	Tgt/Cgt	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		25	0.49		HGNC	p.C2567R	rs778498589	USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61450245,A,G&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97,Superfamily_domains:SSF48371		C/R		G	neutral	7776/11357		getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=2307&re=3350&var=C2567R	tolerated(0.89)				YES	USP34,missense_variant,p.Cys2567Arg,ENST00000398571,NM_014709.3;USP34,missense_variant,p.Cys327Arg,ENST00000411912,;USP34,downstream_gene_variant,,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,upstream_gene_variant,,ENST00000472689,;USP34,upstream_gene_variant,,ENST00000476716,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;USP34,non_coding_transcript_exon_variant,,ENST00000487547,;USP34,non_coding_transcript_exon_variant,,ENST00000468703,;USP34,upstream_gene_variant,,ENST00000490527,;USP34,upstream_gene_variant,,ENST00000482250,;USP34,upstream_gene_variant,,ENST00000483672,;	0.000116						MODERATE	7699/10641	C2567R	UBP34_HUMAN			Transcript		benign(0.034)	.	ENSP00000381577	8.28E-06	CCDS42686.1			1	
PRPF6	0	LGGM	GRCh37	20	62660778	62660778	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	13	.	.	ENST00000266079.4:c.2480G>C	p.Arg827Thr	p.R827T	ENST00000266079	NM_012469.3	827	aGg/aCg	0	1	1	UPI0000132356	0	NA	ENST00000266079		ENSG00000101161	15860		25	1.5		HGNC	p.R827T		PRPF6		SNV			1				ENST00000266079	protein_coding	getma.org/?cm=var&var=hg19,20,62660778,G,C&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF12,Superfamily_domains:SSF48452		R/T		C	low	2591/3044		getma.org/?cm=msa&ty=f&p=PRP6_HUMAN&rb=743&re=941&var=R827T	deleterious(0)				YES	PRPF6,missense_variant,p.Arg827Thr,ENST00000266079,NM_012469.3;PRPF6,missense_variant,p.Arg787Thr,ENST00000535781,;ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,intron_variant,,ENST00000217130,;LINC00176,upstream_gene_variant,,ENST00000444463,;							MODERATE	2480/2826	R827T	PRP6_HUMAN			Transcript		benign(0.044)	.	ENSP00000266079		CCDS13550.1			1	
CCPG1	0	LGGM	GRCh37	15	55664236	55664236	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	16	13	.	.	ENST00000442196.3:c.461C>T	p.Ser154Leu	p.S154L	ENST00000442196		154	tCa/tTa	0	1		UPI000013F0C7	0	NA	ENST00000310958		ENSG00000260916	24227		29	2.08		HGNC	p.S154L		CCPG1		SNV							ENST00000425574	protein_coding	getma.org/?cm=var&var=hg19,15,55664236,G,A&fts=all		Low_complexity_(Seg):seg		S/L		A	medium	760/6822		getma.org/?cm=msa&ty=f&p=CCPG1_HUMAN&rb=1&re=315&var=S154L	tolerated(0.1)	H3BTZ1_HUMAN,H3BR24_HUMAN				CCPG1,missense_variant,p.Ser154Leu,ENST00000310958,NM_001204451.1,NM_001204450.1,NM_020739.3,NM_004748.4;CCPG1,missense_variant,p.Ser154Leu,ENST00000442196,;CCPG1,missense_variant,p.Ser154Leu,ENST00000569205,;CCPG1,missense_variant,p.Ser154Leu,ENST00000425574,;CCPG1,missense_variant,p.Ser186Leu,ENST00000563171,;CCPG1,missense_variant,p.Ser154Leu,ENST00000570272,;MIR628,downstream_gene_variant,,ENST00000385229,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;DYX1C1-CCPG1,downstream_gene_variant,,ENST00000568310,;CCPG1,splice_region_variant,,ENST00000568808,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;							MODERATE	461/2274	S154L	CCPG1_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000311656		CCDS42039.1			1	
NCAPG2	0	LGGM	GRCh37	7	158443636	158443636	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	34	13	.	.	ENST00000409423.1:c.2963A>G	p.His988Arg	p.H988R	ENST00000409423	NM_001281932.1	988	cAt/cGt	0	1		UPI000000DA46	0	NA	ENST00000356309		ENSG00000146918	21904		47	1.7		HGNC	p.H988R		NCAPG2		SNV							ENST00000449727	protein_coding	getma.org/?cm=var&var=hg19,7,158443636,T,C&fts=all		hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4		H/R		C	low	3108/3930		getma.org/?cm=msa&ty=f&p=CNDG2_HUMAN&rb=828&re=1027&var=H988R	tolerated(0.24)					NCAPG2,missense_variant,p.His988Arg,ENST00000409339,NM_001281933.1;NCAPG2,missense_variant,p.His988Arg,ENST00000409423,NM_001281932.1;NCAPG2,missense_variant,p.His988Arg,ENST00000356309,NM_017760.5;NCAPG2,missense_variant,p.His988Arg,ENST00000449727,;NCAPG2,intron_variant,,ENST00000441982,;NCAPG2,intron_variant,,ENST00000275830,;NCAPG2,intron_variant,,ENST00000541468,;NCAPG2,3_prime_UTR_variant,,ENST00000432615,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000467785,;							MODERATE	2963/3432	H988R	CNDG2_HUMAN			Transcript		benign(0.11)	.	ENSP00000348657		CCDS43686.1			1	
CELA3B	0	LGGM	GRCh37	1	22304923	22304923	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	45	13	.	.	ENST00000337107.6:c.105G>A	p.Ala35=	p.A35=	ENST00000337107	NM_007352.2	35	gcG/gcA	0	1	1	UPI0000156D2F	0		ENST00000337107		ENSG00000219073	15945		58			HGNC	p.A35A	rs757449459	CELA3B		SNV							ENST00000337107	protein_coding			Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11,PROSITE_profiles:PS50240		A		A		124/897	1.50E-05						YES	CELA3B,synonymous_variant,p.=,ENST00000337107,NM_007352.2;CELA3B,synonymous_variant,p.=,ENST00000374666,;CELA3B,upstream_gene_variant,,ENST00000400277,;RN7SL421P,downstream_gene_variant,,ENST00000582599,;							LOW	105/813		CEL3B_HUMAN			Transcript			.	ENSP00000338369	8.24E-06	CCDS219.1			1	
SMPDL3B	0	LGGM	GRCh37	1	28271891	28271891	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	14	.	.	ENST00000373894.3:c.210C>A	p.Leu70=	p.L70=	ENST00000373894	NM_014474.2	70	ctC/ctA	0	1	1	UPI00004700F5	0		ENST00000373894		ENSG00000130768	21416		37			HGNC	p.L70L		SMPDL3B		SNV							ENST00000549094	protein_coding			Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF036767,hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF25,Superfamily_domains:SSF56300		L		A		401/1878				B4DEC6_HUMAN			YES	SMPDL3B,synonymous_variant,p.=,ENST00000373894,NM_014474.2;SMPDL3B,synonymous_variant,p.=,ENST00000549094,;SMPDL3B,synonymous_variant,p.=,ENST00000373888,NM_001009568.1;SMPDL3B,synonymous_variant,p.=,ENST00000411604,;RP11-460I13.2,intron_variant,,ENST00000448015,;SMPDL3B,non_coding_transcript_exon_variant,,ENST00000466793,;SMPDL3B,synonymous_variant,p.=,ENST00000548116,;							LOW	210/1368		ASM3B_HUMAN			Transcript			.	ENSP00000363001		CCDS30655.1			1	
PCSK5	0	LGGM	GRCh37	9	78938124	78938124	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	33	14	.	.	ENST00000545128.1:c.4178C>T	p.Ser1393Phe	p.S1393F	ENST00000545128	NM_001190482.1	1393	tCc/tTc	0	1	1	UPI0001DAD817	0	NA	ENST00000545128		ENSG00000099139	8747		47	1.495		HGNC	p.S1093F	rs746647388	PCSK5		SNV							ENST00000424854	protein_coding	getma.org/?cm=var&var=hg19,9,78938124,C,T&fts=all		Gene3D:2.10.220.10,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184		S/F		T	low	4716/9538	1.59E-05	getma.org/?cm=msa&ty=f&p=PCSK5_HUMAN&rb=1312&re=1511&var=S1393F	tolerated(0.12)	I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Ser1393Phe,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Ser1093Phe,ENST00000424854,;							MODERATE	4178/5583	S1393F	PCSK5_HUMAN			Transcript		benign(0.007)	.	ENSP00000446280	8.60E-06	CCDS55320.1			1	
ADGB	0	LGGM	GRCh37	6	146985438	146985438	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	31	14	.	.	ENST00000397944.3:c.714G>A	p.Met238Ile	p.M238I	ENST00000397944	NM_024694.3	238	atG/atA	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		45	1.365		HGNC	p.M50I		ADGB		SNV							ENST00000473647	protein_coding	getma.org/?cm=var&var=hg19,6,146985438,G,A&fts=all		PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001		M/I		A	low	790/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=70&re=411&var=M238I	deleterious(0.02)				YES	ADGB,missense_variant,p.Met238Ile,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Met50Ile,ENST00000473647,;ADGB,5_prime_UTR_variant,,ENST00000367493,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;ADGB,intron_variant,,ENST00000493950,;							MODERATE	714/5004	M238I	ADGB_HUMAN			Transcript		possibly_damaging(0.46)	.	ENSP00000381036					1	
ZYG11B	0	LGGM	GRCh37	1	53237141	53237141	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	22	14	.	.	ENST00000294353.6:c.646A>G	p.Met216Val	p.M216V	ENST00000294353	NM_024646.2	216	Atg/Gtg	0	1	1	UPI00001C1D70	0	NA	ENST00000294353		ENSG00000162378	25820		36	2.015		HGNC	p.M216V		ZYG11B		SNV							ENST00000545132	protein_coding	getma.org/?cm=var&var=hg19,1,53237141,A,G&fts=all		Superfamily_domains:SSF52047,Gene3D:3.80.10.10,hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF21		M/V		G	medium	791/8093		getma.org/?cm=msa&ty=f&p=ZY11B_HUMAN&rb=1&re=742&var=M216V	tolerated(0.08)				YES	ZYG11B,missense_variant,p.Met216Val,ENST00000294353,NM_024646.2;ZYG11B,missense_variant,p.Met216Val,ENST00000443756,;ZYG11B,missense_variant,p.Met216Val,ENST00000545132,;RP11-159C21.4,downstream_gene_variant,,ENST00000437890,;							MODERATE	646/2235	M216V	ZY11B_HUMAN			Transcript		benign(0.001)	.	ENSP00000294353		CCDS30717.1			1	
IGLL5	0	LGGM	GRCh37	22	23237633	23237633	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	17	14	.	.	ENST00000390321.2:c.79T>A	p.Val27Glu	p.V27E	ENST00000390321		27	gTg/gAg	0	1	1	UPI0000119C74	0	getma.org/pdb.php?prot=LAC2_HUMAN&from=13&to=100&var=V27E	ENST00000526893		ENSG00000254709	38476		31	3.935		HGNC	p.V135E		IGLL5		SNV							ENST00000526893	protein_coding	getma.org/?cm=var&var=hg19,22,23237633,T,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF75,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726		V/E		A	high	678/1050		getma.org/?cm=msa&ty=f&p=LAC2_HUMAN&rb=13&re=100&var=V27E	deleterious_low_confidence(0)	A0M8Q9_HUMAN			YES	IGLL5,missense_variant,p.Val136Glu,ENST00000532223,;IGLL5,missense_variant,p.Val135Glu,ENST00000526893,NM_001178126.1;IGLL5,3_prime_UTR_variant,,ENST00000531372,NM_001256296.1;IGLC1,missense_variant,p.Val27Glu,ENST00000390321,;IGLJ2,upstream_gene_variant,,ENST00000390322,;IGLJ1,downstream_gene_variant,,ENST00000390320,;							MODERATE	404/645	V27E	LAC1_HUMAN,IGLL5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000431254		CCDS54506.1			1	
RBM33	0	LGGM	GRCh37	7	155471326	155471326	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	16	14	.	.	ENST00000401878.3:c.196G>T	p.Glu66Ter	p.E66*	ENST00000401878	NM_053043.2	66	Gag/Tag	0	1	1	UPI00015743D7	0	NA	ENST00000401878		ENSG00000184863	27223		30	0		HGNC	p.E66X		RBM33		SNV							ENST00000392759	protein_coding	getma.org/?cm=var&var=hg19,7,155471326,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2		E/*		T	NA	394/10149		NA		C9J7M3_HUMAN			YES	RBM33,stop_gained,p.Glu66Ter,ENST00000401878,NM_053043.2;RBM33,stop_gained,p.Glu66Ter,ENST00000392759,;RBM33,stop_gained,p.Glu66Ter,ENST00000287912,;RBM33,upstream_gene_variant,,ENST00000440108,;RBM33,stop_gained,p.Glu21Ter,ENST00000307403,;							HIGH	196/3513	E66*	RBM33_HUMAN			Transcript			.	ENSP00000384160		CCDS5941.2			1	
SEMA3C	0	LGGM	GRCh37	7	80374380	80374380	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	41	14	.	.	ENST00000265361.3:c.2086G>A	p.Ala696Thr	p.A696T	ENST00000265361	NM_006379.3	696	Gca/Aca	0	1	1	UPI000011C137	0	NA	ENST00000265361		ENSG00000075223	10725		55	0.805		HGNC	p.A714T		SEMA3C		SNV			1				ENST00000544525	protein_coding	getma.org/?cm=var&var=hg19,7,80374380,C,T&fts=all		hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036		A/T		T	low	2648/5174		getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=662&re=751&var=A696T	tolerated(0.06)	Q75MX0_HUMAN,Q75L25_HUMAN			YES	SEMA3C,missense_variant,p.Ala696Thr,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Ala696Thr,ENST00000419255,;SEMA3C,missense_variant,p.Ala714Thr,ENST00000544525,;							MODERATE	2086/2256	A696T	SEM3C_HUMAN			Transcript		benign(0.003)	.	ENSP00000265361		CCDS5596.1			1	
RIMBP2	0	LGGM	GRCh37	12	130929789	130929789	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	28	15	.	.	ENST00000261655.4:c.556G>A	p.Glu186Lys	p.E186K	ENST00000261655	NM_015347.4	186	Gag/Aag	0	1	1	UPI00001C1F42	0	getma.org/pdb.php?prot=RIMB2_HUMAN&from=172&to=232&var=E186K	ENST00000261655		ENSG00000060709	30339		43	1.6		HGNC	p.E186K	rs373251521,COSM1677477	RIMBP2		SNV	T:0					0,1	ENST00000261655	protein_coding	getma.org/?cm=var&var=hg19,12,130929789,C,T&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044		E/K	T:0.0001	T	low	720/6321	1.51E-05	getma.org/?cm=msa&ty=f&p=RIMB2_HUMAN&rb=172&re=232&var=E186K	deleterious(0)	F5H3X3_HUMAN			YES	RIMBP2,missense_variant,p.Glu186Lys,ENST00000261655,NM_015347.4;RIMBP2,missense_variant,p.Glu94Lys,ENST00000536002,;RIMBP2,missense_variant,p.Glu94Lys,ENST00000535703,;					0,1		MODERATE	556/3159	E186K	RIMB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261655	8.24E-06	CCDS31925.1			1	
SLCO4C1	0	LGGM	GRCh37	5	101631816	101631816	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	22	15	.	.	ENST00000310954.6:c.151A>T	p.Lys51Ter	p.K51*	ENST00000310954	NM_180991.4	51	Aag/Tag	0	1	1	UPI00001C10B6	0	NA	ENST00000310954		ENSG00000173930	23612		37	0		HGNC	p.K51X		SLCO4C1		SNV							ENST00000310954	protein_coding	getma.org/?cm=var&var=hg19,5,101631816,T,A&fts=all		hmmpanther:PTHR11388:SF81,hmmpanther:PTHR11388,Low_complexity_(Seg):seg		K/*		A	NA	438/5334		NA		Q63HP3_HUMAN			YES	SLCO4C1,stop_gained,p.Lys51Ter,ENST00000310954,NM_180991.4;							HIGH	151/2175	K51*	SO4C1_HUMAN			Transcript			.	ENSP00000309741		CCDS34205.1			1	
BCLAF1	0	LGGM	GRCh37	6	136597426	136597426	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	105	15	.	.	ENST00000531224.1:c.1237A>T	p.Lys413Ter	p.K413*	ENST00000531224	NM_001077441.1	413	Aag/Tag	0	1	1	UPI000006FCE7	0	NA	ENST00000531224		ENSG00000029363	16863		120	0		HGNC	p.K411X		BCLAF1		SNV							ENST00000392348	protein_coding	getma.org/?cm=var&var=hg19,6,136597426,T,A&fts=all		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4		K/*		A	NA	1490/7263		NA		B0AZU3_HUMAN			YES	BCLAF1,stop_gained,p.Lys413Ter,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,stop_gained,p.Lys411Ter,ENST00000353331,NM_001077440.1;BCLAF1,stop_gained,p.Lys413Ter,ENST00000527536,;BCLAF1,stop_gained,p.Lys411Ter,ENST00000527759,;BCLAF1,stop_gained,p.Lys411Ter,ENST00000392348,;BCLAF1,stop_gained,p.Lys413Ter,ENST00000529826,;BCLAF1,intron_variant,,ENST00000530767,;BCLAF1,stop_gained,p.Lys413Ter,ENST00000527613,;BCLAF1,stop_gained,p.Lys413Ter,ENST00000532384,;BCLAF1,stop_gained,p.Lys411Ter,ENST00000530429,;BCLAF1,intron_variant,,ENST00000534269,;BCLAF1,intron_variant,,ENST00000533621,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000528229,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;							HIGH	1237/2763	K413*	BCLF1_HUMAN			Transcript			.	ENSP00000435210		CCDS5177.1			1	
EIF2D	0	LGGM	GRCh37	1	206772953	206772953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	15	.	.	ENST00000271764.2:c.1066G>T	p.Val356Phe	p.V356F	ENST00000271764	NM_006893.2	356	Gtc/Ttc	0	1	1	UPI00000710E1	0	NA	ENST00000271764		ENSG00000143486	6583		39	1.3		HGNC	p.V356F		EIF2D		SNV							ENST00000271764	protein_coding	getma.org/?cm=var&var=hg19,1,206772953,C,A&fts=all		hmmpanther:PTHR12217:SF4,hmmpanther:PTHR12217		V/F		A	low	1275/2094		getma.org/?cm=msa&ty=f&p=EIF2D_HUMAN&rb=201&re=400&var=V356F	deleterious(0.05)				YES	EIF2D,missense_variant,p.Val356Phe,ENST00000271764,NM_006893.2;EIF2D,missense_variant,p.Val232Phe,ENST00000367114,NM_001201478.1;EIF2D,downstream_gene_variant,,ENST00000437518,;EIF2D,non_coding_transcript_exon_variant,,ENST00000468891,;EIF2D,intron_variant,,ENST00000484492,;EIF2D,upstream_gene_variant,,ENST00000472709,;EIF2D,downstream_gene_variant,,ENST00000461334,;							MODERATE	1066/1755	V356F	EIF2D_HUMAN			Transcript		possibly_damaging(0.593)	.	ENSP00000271764		CCDS1465.1			1	
NUP214	0	LGGM	GRCh37	9	134072859	134072859	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	59	15	.	.	ENST00000359428.5:c.3978G>A	p.Leu1326=	p.L1326=	ENST00000359428	NM_005085.3	1326	ttG/ttA	0	1	1	UPI00001BBB2F	0		ENST00000359428		ENSG00000126883	8064		74			HGNC	p.L152L		NUP214		SNV			1				ENST00000483497	protein_coding			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21		L		A		4122/7600				H0YDI2_HUMAN,E9PS86_HUMAN			YES	NUP214,synonymous_variant,p.=,ENST00000359428,NM_005085.3;NUP214,synonymous_variant,p.=,ENST00000411637,;NUP214,synonymous_variant,p.=,ENST00000451030,;NUP214,synonymous_variant,p.=,ENST00000483497,;NUP214,synonymous_variant,p.=,ENST00000531600,;RP11-544A12.8,upstream_gene_variant,,ENST00000502188,;NUP214,non_coding_transcript_exon_variant,,ENST00000465486,;NUP214,non_coding_transcript_exon_variant,,ENST00000470765,;NUP214,non_coding_transcript_exon_variant,,ENST00000528114,;NUP214,intron_variant,,ENST00000529286,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,synonymous_variant,p.=,ENST00000453861,;NUP214,non_coding_transcript_exon_variant,,ENST00000525384,;NUP214,downstream_gene_variant,,ENST00000525980,;NUP214,downstream_gene_variant,,ENST00000524578,;							LOW	3978/6273		NU214_HUMAN			Transcript			.	ENSP00000352400		CCDS6940.1			1	
MED12L	0	LGGM	GRCh37	3	151073706	151073706	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	38	15	.	.	ENST00000474524.1:c.2435A>T	p.Gln812Leu	p.Q812L	ENST00000474524	NM_053002.4	812	cAa/cTa	0	1	1	UPI000020A46B	0	NA	ENST00000474524		ENSG00000144893	16050		53	0.69		HGNC	p.Q812L		MED12L		SNV							ENST00000474524	protein_coding	getma.org/?cm=var&var=hg19,3,151073706,A,T&fts=all		hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5		Q/L		T	neutral	2473/10744		getma.org/?cm=msa&ty=f&p=MD12L_HUMAN&rb=731&re=930&var=Q812L	deleterious(0.03)				YES	MED12L,missense_variant,p.Gln812Leu,ENST00000474524,NM_053002.4;MED12L,missense_variant,p.Gln672Leu,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_022788.4,NM_176876.2;MED12L,non_coding_transcript_exon_variant,,ENST00000491549,;MED12L,downstream_gene_variant,,ENST00000468305,;							MODERATE	2435/6438	Q812L	MD12L_HUMAN			Transcript		benign(0.067)	.	ENSP00000417235		CCDS33876.1			1	
PUS7L	0	LGGM	GRCh37	12	44148291	44148291	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	15	.	.	ENST00000416848.2:c.758T>G	p.Phe253Cys	p.F253C	ENST00000416848	NM_001098615.1	253	tTt/tGt	0	1		UPI0000037C53	0	NA	ENST00000344862		ENSG00000129317	25276		38	0.895		HGNC	p.F253C		PUS7L		SNV							ENST00000553166	protein_coding	getma.org/?cm=var&var=hg19,12,44148291,A,C&fts=all		hmmpanther:PTHR13326,hmmpanther:PTHR13326:SF5,PIRSF_domain:PIRSF037016		F/C		C	low	862/3974		getma.org/?cm=msa&ty=f&p=PUS7L_HUMAN&rb=201&re=262&var=F253C	deleterious(0)	F8VZA0_HUMAN,F8VWC0_HUMAN,F8VW99_HUMAN,F8VP66_HUMAN,B3KUJ1_HUMAN				PUS7L,missense_variant,p.Phe253Cys,ENST00000416848,NM_001098615.1;PUS7L,missense_variant,p.Phe253Cys,ENST00000344862,NM_031292.4;PUS7L,missense_variant,p.Phe253Cys,ENST00000551923,NM_001098614.2;PUS7L,missense_variant,p.Phe253Cys,ENST00000553166,;PUS7L,intron_variant,,ENST00000431332,NM_001271826.1;PUS7L,intron_variant,,ENST00000550784,;PUS7L,intron_variant,,ENST00000547156,;IRAK4,upstream_gene_variant,,ENST00000431837,NM_001145256.1,NM_001145257.1;IRAK4,upstream_gene_variant,,ENST00000448290,NM_016123.3;IRAK4,upstream_gene_variant,,ENST00000551736,NM_001114182.2;IRAK4,upstream_gene_variant,,ENST00000440781,NM_001145258.1;PUS7L,downstream_gene_variant,,ENST00000549868,;IRAK4,upstream_gene_variant,,ENST00000550616,;IRAK4,upstream_gene_variant,,ENST00000547521,;IRAK4,upstream_gene_variant,,ENST00000550386,;IRAK4,upstream_gene_variant,,ENST00000547101,;IRAK4,upstream_gene_variant,,ENST00000550615,;IRAK4,upstream_gene_variant,,ENST00000552309,;IRAK4,upstream_gene_variant,,ENST00000550361,;IRAK4,upstream_gene_variant,,ENST00000546780,;							MODERATE	758/2106	F253C	PUS7L_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000343081		CCDS8743.1			1	
MMP13	0	LGGM	GRCh37	11	102819877	102819877	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	44	15	.	.	ENST00000260302.3:c.928C>T	p.Arg310Cys	p.R310C	ENST00000260302	NM_002427.3	310	Cgc/Tgc	0	1	1	UPI00000422BC	0	getma.org/pdb.php?prot=MMP13_HUMAN&from=290&to=332&var=R310C	ENST00000260302		ENSG00000137745	7159		59	4.06		HGNC	p.R310C	rs782628284	MMP13		SNV			1	9.66E-05			ENST00000340273	protein_coding	getma.org/?cm=var&var=hg19,11,102819877,G,A&fts=all		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		R/C		A	high	957/2716	1.51E-05	getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=290&re=332&var=R310C	deleterious(0)	Q6LBE5_HUMAN			YES	MMP13,missense_variant,p.Arg310Cys,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Arg310Cys,ENST00000340273,;							MODERATE	928/1416	R310C	MMP13_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000260302	1.65E-05	CCDS8324.1			1	
ERO1LB	0	LGGM	GRCh37	1	236385266	236385266	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	15	.	.	ENST00000354619.5:c.1167C>T	p.Asp389=	p.D389=	ENST00000354619	NM_019891.3	389	gaC/gaT	0	1	1	UPI00004700B5	0		ENST00000354619		ENSG00000086619	14355		39			HGNC	p.D389D		ERO1LB		SNV							ENST00000354619	protein_coding			Superfamily_domains:0043331,PIRSF_domain:PIRSF017205,Pfam_domain:PF04137,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF2		D		A		1369/4567				Q5TAE8_HUMAN,Q5T1H5_HUMAN			YES	ERO1LB,synonymous_variant,p.=,ENST00000354619,NM_019891.3;ERO1LB,synonymous_variant,p.=,ENST00000264181,;GPR137B,downstream_gene_variant,,ENST00000477559,;							LOW	1167/1404		ERO1B_HUMAN			Transcript			.	ENSP00000346635		CCDS31064.1			1	
HHATL	0	LGGM	GRCh37	3	42739711	42739711	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	35	15	.	.	ENST00000441594.1:c.616G>T	p.Asp206Tyr	p.D206Y	ENST00000441594	NM_020707.3	206	Gac/Tac	0	1		UPI000012DC51	0	NA	ENST00000310417		ENSG00000010282	13242		50	2.125		HGNC	p.D206Y		HHATL		SNV							ENST00000441594	protein_coding	getma.org/?cm=var&var=hg19,3,42739711,C,A&fts=all		hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF19,Pfam_domain:PF03062		D/Y		A	medium	763/1750		getma.org/?cm=msa&ty=f&p=HHATL_HUMAN&rb=160&re=450&var=D206Y	deleterious(0)	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN				HHATL,missense_variant,p.Asp206Tyr,ENST00000441594,NM_020707.3;HHATL,missense_variant,p.Asp206Tyr,ENST00000310417,;HHATL,missense_variant,p.Asp141Tyr,ENST00000457462,;HHATL,missense_variant,p.Asp206Tyr,ENST00000416756,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000442469,;HHATL,downstream_gene_variant,,ENST00000417472,;HHATL,upstream_gene_variant,,ENST00000426666,;HHATL-AS1,upstream_gene_variant,,ENST00000600839,;HHATL-AS1,upstream_gene_variant,,ENST00000423165,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,upstream_gene_variant,,ENST00000480939,;HHATL,upstream_gene_variant,,ENST00000466007,;HHATL,downstream_gene_variant,,ENST00000497000,;HHATL,upstream_gene_variant,,ENST00000490003,;							MODERATE	616/1515	D206Y	HHATL_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000310621		CCDS2704.1			1	
HGD	0	LGGM	GRCh37	3	120365152	120365152	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	42	15	.	.	ENST00000283871.5:c.611A>G	p.Tyr204Cys	p.Y204C	ENST00000283871	NM_000187.3	204	tAt/tGt	0	1	1	UPI000020A025	0	getma.org/pdb.php?prot=HGD_HUMAN&from=5&to=434&var=Y204C	ENST00000283871		ENSG00000113924	4892		57	2.885		HGNC	p.Y204C	rs751827206	HGD		SNV			1				ENST00000283871	protein_coding	getma.org/?cm=var&var=hg19,3,120365152,T,C&fts=all		hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Gene3D:2.60.120.10,Pfam_domain:PF04209,Superfamily_domains:SSF51182		Y/C		C	medium	1071/2005	1.50E-05	getma.org/?cm=msa&ty=f&p=HGD_HUMAN&rb=5&re=434&var=Y204C	deleterious(0)	B3KW64_HUMAN			YES	HGD,missense_variant,p.Tyr204Cys,ENST00000283871,NM_000187.3;HGD,missense_variant,p.Tyr11Cys,ENST00000494453,;HGD,missense_variant,p.Tyr48Cys,ENST00000475447,;HGD,downstream_gene_variant,,ENST00000476082,;HGD,downstream_gene_variant,,ENST00000485313,;HGD,intron_variant,,ENST00000492108,;HGD,upstream_gene_variant,,ENST00000470321,;							MODERATE	611/1338	Y204C	HGD_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000283871	8.24E-06	CCDS3000.1			1	
DTNB	0	LGGM	GRCh37	2	25861929	25861929	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	15	.	.	ENST00000406818.3:c.102T>G	p.Thr34=	p.T34=	ENST00000406818	NM_001256303.1	34	acT/acG	0	1	1	UPI0000129949	0		ENST00000406818		ENSG00000138101	3058		42			HGNC	p.T34T		DTNB		SNV							ENST00000303659	protein_coding			Pfam_domain:PF09068,PIRSF_domain:PIRSF038204,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF227,Superfamily_domains:SSF47473		T		C		352/2474				Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN			YES	DTNB,synonymous_variant,p.=,ENST00000406818,NM_001256303.1,NM_021907.4;DTNB,synonymous_variant,p.=,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,synonymous_variant,p.=,ENST00000404103,NM_033147.3;DTNB,synonymous_variant,p.=,ENST00000288642,;DTNB,synonymous_variant,p.=,ENST00000407038,NM_033148.3;DTNB,synonymous_variant,p.=,ENST00000407186,;DTNB,synonymous_variant,p.=,ENST00000405222,NM_183361.2;DTNB,synonymous_variant,p.=,ENST00000303659,;DTNB,synonymous_variant,p.=,ENST00000349996,;DTNB,5_prime_UTR_variant,,ENST00000496972,NM_001256308.1;DTNB,5_prime_UTR_variant,,ENST00000545439,;DTNB,non_coding_transcript_exon_variant,,ENST00000472690,;DTNB,non_coding_transcript_exon_variant,,ENST00000495466,;DTNB,intron_variant,,ENST00000486826,;DTNB,synonymous_variant,p.=,ENST00000398951,;DTNB,synonymous_variant,p.=,ENST00000356599,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000493538,;DTNB,non_coding_transcript_exon_variant,,ENST00000460418,;							LOW	102/1884		DTNB_HUMAN			Transcript			.	ENSP00000384084		CCDS46237.1			1	
TTC14	0	LGGM	GRCh37	3	180322739	180322739	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	13	15	.	.	ENST00000296015.4:c.801A>G	p.Leu267=	p.L267=	ENST00000296015	NM_133462.3	267	ctA/ctG	0	1	1	UPI00000720AE	0		ENST00000296015		ENSG00000163728	24697		28			HGNC	p.L267L		TTC14		SNV							ENST00000412756	protein_coding			hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184		L		G		933/2881				C9JBA2_HUMAN,C9J974_HUMAN			YES	TTC14,synonymous_variant,p.=,ENST00000412756,NM_001042601.2;TTC14,synonymous_variant,p.=,ENST00000296015,NM_133462.3;TTC14,synonymous_variant,p.=,ENST00000382584,NM_001288582.1;TTC14,synonymous_variant,p.=,ENST00000492617,;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000495660,;TTC14,downstream_gene_variant,,ENST00000491380,;CCDC39,downstream_gene_variant,,ENST00000489868,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,synonymous_variant,p.=,ENST00000470669,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000462895,;							LOW	801/2313		TTC14_HUMAN			Transcript			.	ENSP00000296015		CCDS3237.1			1	
CBX5	0	LGGM	GRCh37	12	54651365	54651365	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	30	16	.	.	ENST00000209875.4:c.70A>T	p.Lys24Ter	p.K24*	ENST00000209875	NM_012117.2	24	Aag/Tag	0	1	1	UPI00001271FC	0	NA	ENST00000209875		ENSG00000094916	1555		46	0		HGNC	p.K24X		CBX5		SNV							ENST00000552562	protein_coding	getma.org/?cm=var&var=hg19,12,54651365,T,A&fts=all		Gene3D:2.40.50.40,Pfam_domain:PF00385,Prints_domain:PR00504,PROSITE_profiles:PS50013,hmmpanther:PTHR22812,hmmpanther:PTHR22812:SF85,SMART_domains:SM00298,Superfamily_domains:SSF54160		K/*		A	NA	207/11528		NA		F8VNY3_HUMAN			YES	CBX5,stop_gained,p.Lys24Ter,ENST00000209875,NM_012117.2;CBX5,stop_gained,p.Lys24Ter,ENST00000439541,NM_001127321.1;CBX5,stop_gained,p.Lys24Ter,ENST00000550411,NM_001127322.1;CBX5,stop_gained,p.Lys24Ter,ENST00000552562,;RN7SL390P,upstream_gene_variant,,ENST00000470634,;							HIGH	70/576	K24*	CBX5_HUMAN			Transcript			.	ENSP00000209875		CCDS8875.1			1	
TG	0	LGGM	GRCh37	8	134146978	134146978	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	16	.	.	ENST00000220616.4:c.8247T>A	p.Ser2749=	p.S2749=	ENST00000220616	NM_003235.4	2749	tcT/tcA	0	1	1	UPI000013C79F	0		ENST00000220616		ENSG00000042832	11764		39			HGNC	p.S1119S		TG		SNV			1				ENST00000542445	protein_coding			PIRSF_domain:PIRSF001831		S		A		8287/8450				Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,synonymous_variant,p.=,ENST00000220616,NM_003235.4;TG,synonymous_variant,p.=,ENST00000377869,;TG,synonymous_variant,p.=,ENST00000542445,;TG,synonymous_variant,p.=,ENST00000519178,;TG,synonymous_variant,p.=,ENST00000519543,;TG,synonymous_variant,p.=,ENST00000521107,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522691,;							LOW	8247/8307		THYG_HUMAN			Transcript			.	ENSP00000220616		CCDS34944.1			1	
ITSN1	0	LGGM	GRCh37	21	35257824	35257824	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	14	16	.	.	ENST00000381318.3:c.4841A>T	p.His1614Leu	p.H1614L	ENST00000381318	NM_003024.2	1614	cAt/cTt	0	1	1	UPI00001403C6	0	getma.org/pdb.php?prot=ITSN1_HUMAN&from=1598&to=1679&var=H1614L	ENST00000381318		ENSG00000205726	6183		30	-0.42		HGNC	p.H1614L		ITSN1		SNV							ENST00000381285	protein_coding	getma.org/?cm=var&var=hg19,21,35257824,A,T&fts=all		PROSITE_profiles:PS50004,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		H/L		T	neutral	5129/17015		getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=1598&re=1679&var=H1614L	deleterious(0.01)	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,missense_variant,p.His1614Leu,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.His1614Leu,ENST00000381285,;ITSN1,missense_variant,p.His1609Leu,ENST00000399367,;ITSN1,missense_variant,p.His1553Leu,ENST00000437442,;ITSN1,missense_variant,p.His294Leu,ENST00000381284,;ITSN1,missense_variant,p.His150Leu,ENST00000415023,;ITSN1,splice_region_variant,,ENST00000399326,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,splice_region_variant,,ENST00000420666,;							MODERATE	4841/5166	H1614L	ITSN1_HUMAN			Transcript		benign(0.16)	.	ENSP00000370719		CCDS33545.1			1	
STAT2	0	LGGM	GRCh37	12	56748362	56748362	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	13	16	.	.	ENST00000314128.4:c.670T>A	p.Leu224Ile	p.L224I	ENST00000314128		224	Tta/Ata	0	1	1	UPI00000473FC	0	getma.org/pdb.php?prot=STAT2_HUMAN&from=139&to=314&var=L224I	ENST00000314128		ENSG00000170581	11363		29	1.15		HGNC	p.L224I		STAT2		SNV							ENST00000314128	protein_coding	getma.org/?cm=var&var=hg19,12,56748362,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF41,Pfam_domain:PF01017,Gene3D:1bg1A01,Superfamily_domains:SSF47655		L/I		T	low	694/3259		getma.org/?cm=msa&ty=f&p=STAT2_HUMAN&rb=139&re=314&var=L224I	tolerated(0.2)	R9QG81_HUMAN,R9QE65_HUMAN,Q6LD48_HUMAN			YES	STAT2,missense_variant,p.Leu224Ile,ENST00000314128,;STAT2,missense_variant,p.Leu220Ile,ENST00000557235,NM_005419.3,NM_198332.1;STAT2,missense_variant,p.Leu220Ile,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,non_coding_transcript_exon_variant,,ENST00000556140,;STAT2,non_coding_transcript_exon_variant,,ENST00000557417,;STAT2,downstream_gene_variant,,ENST00000555646,;STAT2,upstream_gene_variant,,ENST00000555519,;							MODERATE	670/2556	L224I	STAT2_HUMAN			Transcript		benign(0.444)	.	ENSP00000315768		CCDS8917.1			1	
ZW10	0	LGGM	GRCh37	11	113629348	113629348	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	13	17	.	.	ENST00000200135.3:c.661A>G	p.Met221Val	p.M221V	ENST00000200135	NM_004724.3	221	Atg/Gtg	0	1	1	UPI000013C491	0	NA	ENST00000200135		ENSG00000086827	13194		30	0.69		HGNC	p.M221V		ZW10		SNV							ENST00000535142	protein_coding	getma.org/?cm=var&var=hg19,11,113629348,T,C&fts=all		Pfam_domain:PF06248,hmmpanther:PTHR12205,hmmpanther:PTHR12205:SF0		M/V		C	neutral	806/2992		getma.org/?cm=msa&ty=f&p=ZW10_HUMAN&rb=9&re=621&var=M221V	tolerated(0.34)	B4E1J7_HUMAN,A1A528_HUMAN			YES	ZW10,missense_variant,p.Met221Val,ENST00000200135,NM_004724.3;ZW10,missense_variant,p.Met221Val,ENST00000535142,;ZW10,synonymous_variant,p.=,ENST00000538209,;							MODERATE	661/2340	M221V	ZW10_HUMAN			Transcript		benign(0)	.	ENSP00000200135		CCDS8363.1			1	
ZPBP2	0	LGGM	GRCh37	17	38026973	38026973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	25	17	.	.	ENST00000348931.4:c.145A>T	p.Asn49Tyr	p.N49Y	ENST00000348931	NM_199321.2	49	Aat/Tat	0	1	1	UPI00001D79E4	0	NA	ENST00000348931		ENSG00000186075	20678		42	1.445		HGNC	p.N49Y		ZPBP2		SNV							ENST00000348931	protein_coding	getma.org/?cm=var&var=hg19,17,38026973,A,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR15443:SF4,hmmpanther:PTHR15443		N/Y		T	low	336/1543		getma.org/?cm=msa&ty=f&p=ZPBP2_HUMAN&rb=1&re=55&var=N49Y	deleterious(0)				YES	ZPBP2,missense_variant,p.Asn27Tyr,ENST00000377940,NM_198844.2;ZPBP2,missense_variant,p.Asn49Tyr,ENST00000348931,NM_199321.2;ZPBP2,missense_variant,p.Asn49Tyr,ENST00000584588,;ZPBP2,intron_variant,,ENST00000583811,;							MODERATE	145/1017	N49Y	ZPBP2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000335384		CCDS11352.1			1	
KIAA1324L	0	LGGM	GRCh37	7	86571371	86571371	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	18	17	.	.	ENST00000450689.2:c.704T>A	p.Val235Glu	p.V235E	ENST00000450689	NM_001142749.2	235	gTa/gAa	0	1	1	UPI000173AA00	0	NA	ENST00000450689		ENSG00000164659	21945		35	1.7		HGNC	p.V235E		KIAA1324L		SNV							ENST00000450689	protein_coding	getma.org/?cm=var&var=hg19,7,86571371,A,T&fts=all		hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727		V/E		T	low	890/6841		getma.org/?cm=msa&ty=f&p=K132L_HUMAN&rb=201&re=400&var=V235E	tolerated(0.06)	F1LLU5_HUMAN,C9JFK7_HUMAN			YES	KIAA1324L,missense_variant,p.Val235Glu,ENST00000450689,NM_001142749.2;KIAA1324L,missense_variant,p.Val235Glu,ENST00000444627,;KIAA1324L,missense_variant,p.Val68Glu,ENST00000416314,NM_152748.3;KIAA1324L,missense_variant,p.Val196Glu,ENST00000423294,;KIAA1324L,upstream_gene_variant,,ENST00000297222,;KIAA1324L,downstream_gene_variant,,ENST00000425689,;KIAA1324L,downstream_gene_variant,,ENST00000398276,;KIAA1324L,missense_variant,p.Val67Glu,ENST00000394714,;							MODERATE	704/3090	V235E	K132L_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000413445		CCDS47632.1			1	
ZC3H7B	0	LGGM	GRCh37	22	41742151	41742151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	18	.	.	ENST00000352645.4:c.1604G>A	p.Gly535Asp	p.G535D	ENST00000352645	NM_017590.5	535	gGc/gAc	0	1	1	UPI000002B2AD	0	NA	ENST00000352645		ENSG00000100403	30869		45	1.5		HGNC	p.G535D		ZC3H7B		SNV							ENST00000351589	protein_coding	getma.org/?cm=var&var=hg19,22,41742151,G,A&fts=all		hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6		G/D		A	low	1861/5909		getma.org/?cm=msa&ty=f&p=Z3H7B_HUMAN&rb=514&re=713&var=G551D	tolerated(0.08)				YES	ZC3H7B,missense_variant,p.Gly535Asp,ENST00000352645,NM_017590.5;ZC3H7B,missense_variant,p.Gly535Asp,ENST00000351589,;							MODERATE	1604/2934	G551D	Z3H7B_HUMAN			Transcript		benign(0.36)	.	ENSP00000345793		CCDS14013.1			1	
OR4X2	0	LGGM	GRCh37	11	48266836	48266836	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	36	18	.	.	ENST00000302329.3:c.181A>T	p.Met61Leu	p.M61L	ENST00000302329	NM_001004727.1	61	Atg/Ttg	0	1	1	UPI0000041BE3	0	NA	ENST00000302329		ENSG00000172208	15184		54	-0.14		HGNC	p.M61L		OR4X2		SNV							ENST00000302329	protein_coding	getma.org/?cm=var&var=hg19,11,48266836,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF96,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		M/L		T	neutral	229/1015		getma.org/?cm=msa&ty=f&p=OR4X2_HUMAN&rb=1&re=130&var=M61L	tolerated(0.21)				YES	OR4X2,missense_variant,p.Met61Leu,ENST00000302329,NM_001004727.1;							MODERATE	181/912	M61L	OR4X2_HUMAN			Transcript		benign(0.002)	.	ENSP00000307751		CCDS31486.1			1	
PXMP4	0	LGGM	GRCh37	20	32295556	32295556	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	32	18	.	.	ENST00000409299.3:c.595A>T	p.Ile199Phe	p.I199F	ENST00000409299	NM_007238.4	199	Atc/Ttc	0	1	1	UPI000013C727	0	NA	ENST00000409299		ENSG00000101417	15920		50	1.555		HGNC	p.I199F		PXMP4		SNV							ENST00000409299	protein_coding	getma.org/?cm=var&var=hg19,20,32295556,T,A&fts=all		PIRSF_domain:PIRSF013674,hmmpanther:PTHR15460		I/F		A	low	688/1732		getma.org/?cm=msa&ty=f&p=PXMP4_HUMAN&rb=150&re=212&var=I199F	tolerated(0.21)	B4DLI8_HUMAN			YES	PXMP4,missense_variant,p.Ile199Phe,ENST00000409299,NM_007238.4;PXMP4,3_prime_UTR_variant,,ENST00000344022,NM_183397.2;PXMP4,3_prime_UTR_variant,,ENST00000217398,;							MODERATE	595/639	I199F	PXMP4_HUMAN			Transcript		benign(0.031)	.	ENSP00000386385		CCDS13225.1			1	
EDRF1	0	LGGM	GRCh37	10	127424337	127424337	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	30	18	.	.	ENST00000356792.4:c.1622A>C	p.Glu541Ala	p.E541A	ENST00000356792	NM_001202438.1	541	gAg/gCg	0	1	1	UPI00005CA2E3	0	NA	ENST00000356792		ENSG00000107938	24640		48	1.83		HGNC	p.E541A		EDRF1		SNV							ENST00000368815	protein_coding	getma.org/?cm=var&var=hg19,10,127424337,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000		E/A		C	low	1854/4128		getma.org/?cm=msa&ty=f&p=EDRF1_HUMAN&rb=1&re=1231&var=E541A	tolerated(0.06)				YES	EDRF1,missense_variant,p.Glu507Ala,ENST00000337623,NM_015608.2;EDRF1,missense_variant,p.Glu541Ala,ENST00000356792,NM_001202438.1;EDRF1,upstream_gene_variant,,ENST00000368813,;EDRF1,missense_variant,p.Glu541Ala,ENST00000419769,;EDRF1,missense_variant,p.Glu541Ala,ENST00000368815,;EDRF1,3_prime_UTR_variant,,ENST00000481600,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;EDRF1,downstream_gene_variant,,ENST00000530795,;							MODERATE	1622/3717	E541A	EDRF1_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000349244		CCDS55733.1			1	
SEMA3E	0	LGGM	GRCh37	7	83014649	83014649	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	72	18	.	.	ENST00000307792.3:c.1836C>A	p.Ile612=	p.I612=	ENST00000307792	NM_012431.2	612	atC/atA	0	1	1	UPI0000135A68	0		ENST00000307792		ENSG00000170381	10727		90			HGNC	p.I612I		SEMA3E		SNV			1				ENST00000307792	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,Superfamily_domains:SSF48726		I		T		2304/6476				F8WCZ5_HUMAN,C9JVH5_HUMAN			YES	SEMA3E,synonymous_variant,p.=,ENST00000307792,NM_012431.2;SEMA3E,synonymous_variant,p.=,ENST00000427262,NM_001178129.1;							LOW	1836/2328		SEM3E_HUMAN			Transcript			.	ENSP00000303212		CCDS34674.1			1	
ZNF804B	0	LGGM	GRCh37	7	88964507	88964507	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	14	19	.	.	ENST00000333190.4:c.2211T>A	p.Gly737=	p.G737=	ENST00000333190	NM_181646.2	737	ggT/ggA	0	1	1	UPI00001A92D2	0		ENST00000333190		ENSG00000182348	21958		33			HGNC	p.G737G		ZNF804B		SNV							ENST00000333190	protein_coding			hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		G		A		2820/4659							YES	ZNF804B,synonymous_variant,p.=,ENST00000333190,NM_181646.2;							LOW	2211/4050		Z804B_HUMAN			Transcript			.	ENSP00000329638		CCDS5613.1			1	
CACYBP	0	LGGM	GRCh37	1	174973827	174973827	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	57	19	.	.	ENST00000367679.2:c.93T>C	p.Ala31=	p.A31=	ENST00000367679	NM_014412.2	31	gcT/gcC	0	1	1	UPI0000032D9C	0		ENST00000367679		ENSG00000116161	30423		76			HGNC	p.A31A	rs756661774	CACYBP		SNV							ENST00000426793	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09032,hmmpanther:PTHR13164,Superfamily_domains:SSF140106		A		C		541/2766	3.01E-05			B2ZWH1_HUMAN			YES	CACYBP,synonymous_variant,p.=,ENST00000367679,NM_014412.2;CACYBP,synonymous_variant,p.=,ENST00000426793,;CACYBP,synonymous_variant,p.=,ENST00000406752,;CACYBP,5_prime_UTR_variant,,ENST00000367681,NM_001007214.1;CACYBP,5_prime_UTR_variant,,ENST00000405362,;CACYBP,non_coding_transcript_exon_variant,,ENST00000473925,;CACYBP,non_coding_transcript_exon_variant,,ENST00000483307,;CACYBP,non_coding_transcript_exon_variant,,ENST00000461977,;CACYBP,upstream_gene_variant,,ENST00000469173,;							LOW	93/687		CYBP_HUMAN			Transcript			.	ENSP00000356652	1.65E-05	CCDS1315.1			1	
JAKMIP1	0	LGGM	GRCh37	4	6055857	6055857	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	31	19	.	.	ENST00000409021.3:c.1726G>A	p.Glu576Lys	p.E576K	ENST00000409021	NM_001099433.1	576	Gaa/Aaa	0	1		UPI000006EC16	0	NA	ENST00000282924		ENSG00000152969	26460		50	2.05		HGNC	p.E411K		JAKMIP1		SNV							ENST00000410077	protein_coding	getma.org/?cm=var&var=hg19,4,6055857,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18935		E/K		T	medium	2212/2585		getma.org/?cm=msa&ty=f&p=JKIP1_HUMAN&rb=1&re=602&var=E576K	tolerated(0.08)	F2Z2K5_HUMAN				JAKMIP1,missense_variant,p.Glu576Lys,ENST00000409021,NM_001099433.1;JAKMIP1,missense_variant,p.Glu576Lys,ENST00000282924,NM_144720.3;JAKMIP1,missense_variant,p.Glu391Lys,ENST00000409371,;JAKMIP1,missense_variant,p.Glu576Lys,ENST00000409831,;JAKMIP1,missense_variant,p.Glu411Lys,ENST00000410077,;JAKMIP1,3_prime_UTR_variant,,ENST00000473053,;							MODERATE	1726/1881	E576K	JKIP1_HUMAN			Transcript		benign(0.046)	.	ENSP00000282924		CCDS3385.1			1	
ZNF616	0	LGGM	GRCh37	19	52620154	52620154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	51	19	.	.	ENST00000600228.1:c.263G>T	p.Arg88Met	p.R88M	ENST00000600228	NM_178523.3	88	aGg/aTg	0	1	1	UPI0000140D49	0	NA	ENST00000600228		ENSG00000204611	28062		70	1.04		HGNC	p.R88M		ZNF616		SNV							ENST00000600228	protein_coding	getma.org/?cm=var&var=hg19,19,52620154,C,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF275		R/M		A	low	525/4335		getma.org/?cm=msa&ty=f&p=ZN616_HUMAN&rb=48&re=198&var=R88M	deleterious(0.01)	M0QXF0_HUMAN			YES	ZNF616,missense_variant,p.Arg88Met,ENST00000600228,NM_178523.3;ZNF616,3_prime_UTR_variant,,ENST00000330123,;ZNF616,downstream_gene_variant,,ENST00000596290,;							MODERATE	263/2346	R88M	ZN616_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000471000		CCDS33090.1			1	
PTCHD4	0	LGGM	GRCh37	6	47976497	47976497	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	20	.	.	ENST00000339488.4:c.780T>C	p.Ser260=	p.S260=	ENST00000339488	NM_001013732.3	260	agT/agC	0	1	1	UPI000179A8D3	0		ENST00000339488		ENSG00000244694	21345		43			HGNC	p.S243S		PTCHD4		SNV							ENST00000543600	protein_coding			PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Gene3D:2j8sB01,Pfam_domain:PF02460,Superfamily_domains:SSF82866		S		G		814/2850				B2RPC0_HUMAN			YES	PTCHD4,synonymous_variant,p.=,ENST00000398738,NM_207499.2;PTCHD4,synonymous_variant,p.=,ENST00000543600,;PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;							LOW	780/2541		PTHD4_HUMAN			Transcript			.	ENSP00000341914		CCDS34473.2			1	
TAS2R43	0	LGGM	GRCh37	12	11244602	11244602	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	42	20	.	.	ENST00000531678.1:c.227A>C	p.Asn76Thr	p.N76T	ENST00000531678	NM_176884.2	76	aAt/aCt	0	1	1	UPI000000D81F	0	NA	ENST00000531678		ENSG00000255374	18875		62	-0.345		HGNC	p.N76T		TAS2R43		SNV							ENST00000531678	protein_coding	getma.org/?cm=var&var=hg19,12,11244602,T,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF44,Superfamily_domains:SSF81321		N/T		G	neutral	311/1027		getma.org/?cm=msa&ty=f&p=T2R43_HUMAN&rb=1&re=298&var=N76T	tolerated(0.06)	Q50KJ2_HUMAN			YES	TAS2R43,missense_variant,p.Asn76Thr,ENST00000531678,NM_176884.2;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000546265,;PRR4,intron_variant,,ENST00000541977,;							MODERATE	227/930	N76T	T2R43_HUMAN			Transcript		benign(0.039)	.	ENSP00000431719		CCDS53749.1			1	
SMPD1	0	LGGM	GRCh37	11	6415667	6415667	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	41	20	.	.	ENST00000342245.4:c.1726T>G	p.Tyr576Asp	p.Y576D	ENST00000342245	NM_001007593.2	576	Tac/Gac	0	1	1	UPI000013E592	0	NA	ENST00000342245		ENSG00000166311	11120		61	2.625		HGNC	p.Y520D		SMPD1		SNV			1				ENST00000356761	protein_coding	getma.org/?cm=var&var=hg19,11,6415667,T,G&fts=all		hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF13,PIRSF_domain:PIRSF000948		Y/D		G	medium	1894/2452		getma.org/?cm=msa&ty=f&p=ASM_HUMAN&rb=462&re=629&var=Y574D	deleterious(0.01)	E9PL59_HUMAN			YES	SMPD1,missense_variant,p.Tyr576Asp,ENST00000342245,NM_001007593.2,NM_000543.4;SMPD1,missense_variant,p.Tyr532Asp,ENST00000299397,;SMPD1,missense_variant,p.Tyr520Asp,ENST00000356761,;SMPD1,missense_variant,p.Tyr575Asp,ENST00000527275,;SMPD1,missense_variant,p.Tyr262Asp,ENST00000526280,;APBB1,downstream_gene_variant,,ENST00000609360,NM_001164.3;APBB1,downstream_gene_variant,,ENST00000389906,;APBB1,downstream_gene_variant,,ENST00000299402,;APBB1,downstream_gene_variant,,ENST00000311051,NM_145689.1;APBB1,downstream_gene_variant,,ENST00000608394,NM_001257321.1;APBB1,downstream_gene_variant,,ENST00000608704,NM_001257320.1,NM_001257326.1;APBB1,downstream_gene_variant,,ENST00000608645,;APBB1,downstream_gene_variant,,ENST00000608655,NM_001257319.1;APBB1,downstream_gene_variant,,ENST00000530885,NM_001257323.1;APBB1,downstream_gene_variant,,ENST00000609331,NM_001257325.1;APBB1,downstream_gene_variant,,ENST00000529519,;SMPD1,downstream_gene_variant,,ENST00000530395,;APBB1,downstream_gene_variant,,ENST00000526240,;SMPD1,downstream_gene_variant,,ENST00000533196,;SMPD1,3_prime_UTR_variant,,ENST00000534405,;SMPD1,3_prime_UTR_variant,,ENST00000533123,;SMPD1,3_prime_UTR_variant,,ENST00000531303,;APBB1,downstream_gene_variant,,ENST00000608435,;APBB1,downstream_gene_variant,,ENST00000524626,;SMPD1,downstream_gene_variant,,ENST00000531336,;SMPD1,downstream_gene_variant,,ENST00000532367,;							MODERATE	1726/1896	Y574D	ASM_HUMAN			Transcript		benign(0.443)	.	ENSP00000340409		CCDS44531.1			1	
EWSR1	0	LGGM	GRCh37	22	29693938	29693938	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	12	20	.	.	ENST00000414183.2:c.1431A>T	p.Gly477=	p.G477=	ENST00000414183		477	ggA/ggT	0	1		UPI000012A2B1	0		ENST00000397938		ENSG00000182944	3508		32			HGNC	p.G472G		EWSR1		SNV			1				ENST00000397938	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238,Superfamily_domains:SSF54928		G		T		1735/2654								EWSR1,splice_region_variant,p.=,ENST00000397938,NM_001163286.1,NM_005243.3,NM_001163285.1,NM_013986.3;EWSR1,splice_region_variant,p.=,ENST00000332050,;EWSR1,splice_region_variant,p.=,ENST00000331029,;EWSR1,splice_region_variant,p.=,ENST00000406548,;EWSR1,splice_region_variant,p.=,ENST00000414183,;EWSR1,splice_region_variant,p.=,ENST00000332035,;EWSR1,splice_region_variant,p.=,ENST00000360091,;EWSR1,splice_region_variant,,ENST00000479135,;EWSR1,splice_region_variant,,ENST00000469669,;EWSR1,splice_region_variant,,ENST00000490315,;EWSR1,splice_region_variant,,ENST00000483629,;							LOW	1416/1971		EWS_HUMAN			Transcript			.	ENSP00000381031		CCDS13851.1			1	
MAOB	0	LGGM	GRCh37	X	43656398	43656398	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	3	20	.	.	ENST00000378069.4:c.592A>G	p.Ile198Val	p.I198V	ENST00000378069	NM_000898.4	198	Atc/Gtc	0	1	1	UPI0000049071	0	getma.org/pdb.php?prot=AOFB_HUMAN&from=14&to=451&var=I198V	ENST00000378069		ENSG00000069535	6834		23	1.18		HGNC	p.I198V		MAOB		SNV							ENST00000378069	protein_coding	getma.org/?cm=var&var=hg19,X,43656398,T,C&fts=all		hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:1.10.405.10,Superfamily_domains:SSF51905,Prints_domain:PR00757		I/V		C	low	740/2566		getma.org/?cm=msa&ty=f&p=AOFB_HUMAN&rb=14&re=451&var=I198V	tolerated(0.07)	H0YCD8_HUMAN,B7Z242_HUMAN			YES	MAOB,missense_variant,p.Ile198Val,ENST00000378069,NM_000898.4;MAOB,missense_variant,p.Ile182Val,ENST00000536181,;MAOB,missense_variant,p.Ile182Val,ENST00000538942,;MAOB,downstream_gene_variant,,ENST00000487544,;							MODERATE	592/1563	I198V	AOFB_HUMAN			Transcript		benign(0.058)	.	ENSP00000367309		CCDS14261.1			1	
OR51A2	0	LGGM	GRCh37	11	4976861	4976861	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	39	20	.	.	ENST00000380371.1:c.83G>T	p.Trp28Leu	p.W28L	ENST00000380371	NM_001004748.1	28	tGg/tTg	0	1	1	UPI0000041B7B	0	NA	ENST00000380371		ENSG00000205496	14764		59	2.76		HGNC	p.W28L		OR51A2		SNV							ENST00000380371	protein_coding	getma.org/?cm=var&var=hg19,11,4976861,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		W/L		A	medium	83/942		getma.org/?cm=msa&ty=f&p=O51A2_HUMAN&rb=1&re=42&var=W28L	deleterious(0.02)				YES	OR51A2,missense_variant,p.Trp28Leu,ENST00000380371,NM_001004748.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	83/942	W28L	O51A2_HUMAN			Transcript		benign(0.242)	.	ENSP00000369729		CCDS31368.1			1	
CYP4B1	0	LGGM	GRCh37	1	47284394	47284394	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	51	20	.	.	ENST00000371923.4:c.1447C>A	p.Arg483=	p.R483=	ENST00000371923	NM_001099772.1	483	Cgg/Agg	0	1		UPI000013D8C5	0		ENST00000271153		ENSG00000142973	2644		71			HGNC	p.R483R		CYP4B1		SNV							ENST00000371923	protein_coding			hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF43,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		R		A		1480/2171				F5H6F1_HUMAN,B4DV41_HUMAN				CYP4B1,synonymous_variant,p.=,ENST00000271153,;CYP4B1,synonymous_variant,p.=,ENST00000371923,NM_001099772.1,NM_000779.3;CYP4B1,synonymous_variant,p.=,ENST00000371919,;CYP4B1,synonymous_variant,p.=,ENST00000452782,;CYP4B1,downstream_gene_variant,,ENST00000468637,;CYP4B1,downstream_gene_variant,,ENST00000526297,;CYP4B1,non_coding_transcript_exon_variant,,ENST00000497005,;CYP4B1,3_prime_UTR_variant,,ENST00000464439,;CYP4B1,downstream_gene_variant,,ENST00000529715,;CYP4B1,downstream_gene_variant,,ENST00000534708,;CYP4B1,downstream_gene_variant,,ENST00000481248,;							LOW	1444/1536		CP4B1_HUMAN			Transcript			.	ENSP00000271153		CCDS542.1			1	
S100A7	0	LGGM	GRCh37	1	153431462	153431462	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	103	20	.	.	ENST00000368723.3:c.28A>T	p.Ile10Leu	p.I10L	ENST00000368723	NM_002963.3	10	Ata/Tta	0	1		UPI000013D90F	0	getma.org/pdb.php?prot=S10A7_HUMAN&from=6&to=46&var=I10L	ENST00000368722		ENSG00000143556	10497		123	0.69		HGNC	p.I10L		S100A7		SNV							ENST00000368722	protein_coding	getma.org/?cm=var&var=hg19,1,153431462,T,A&fts=all		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF64,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		I/L		A	neutral	102/442		getma.org/?cm=msa&ty=f&p=S10A7_HUMAN&rb=6&re=46&var=I10L	tolerated(0.75)					S100A7,missense_variant,p.Ile10Leu,ENST00000368723,NM_002963.3;S100A7,missense_variant,p.Ile10Leu,ENST00000368722,;							MODERATE	28/306	I10L	S10A7_HUMAN			Transcript		benign(0.002)	.	ENSP00000357711		CCDS1039.1			1	
KIAA1033	0	LGGM	GRCh37	12	105550570	105550570	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	21	.	.	ENST00000332180.5:c.2825G>C	p.Arg942Thr	p.R942T	ENST00000332180	NM_015275.1	942	aGa/aCa	0	1	1	UPI00001C1F3B	0	NA	ENST00000332180		ENSG00000136051	29174		48	1.52		HGNC	p.R20T		KIAA1033		SNV			1				ENST00000552203	protein_coding	getma.org/?cm=var&var=hg19,12,105550570,G,C&fts=all		hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14744		R/T		C	low	2912/5812		getma.org/?cm=msa&ty=f&p=WASH7_HUMAN&rb=801&re=1000&var=R942T	tolerated(0.07)	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN			YES	KIAA1033,missense_variant,p.Arg942Thr,ENST00000332180,NM_015275.1;KIAA1033,missense_variant,p.Arg20Thr,ENST00000551224,;KIAA1033,missense_variant,p.Arg20Thr,ENST00000552203,;KIAA1033,splice_region_variant,,ENST00000551290,;KIAA1033,splice_region_variant,,ENST00000550053,;KIAA1033,splice_region_variant,,ENST00000550786,;							MODERATE	2825/3522	R942T	WASH7_HUMAN			Transcript		benign(0.284)	.	ENSP00000328062		CCDS41826.1			1	
MYEOV2	0	LGGM	GRCh37	2	241066120	241066120	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	16	21	.	.	ENST00000307266.3:c.619A>T	p.Arg207Trp	p.R207W	ENST00000307266	NM_138336.1	207	Agg/Tgg	0	1		UPI0000071BBF	0		ENST00000607357		ENSG00000172428	21314		37		4123	HGNC	p.R207W		MYEOV2		SNV							ENST00000307266	protein_coding							A		-/418								MYEOV2,missense_variant,p.Arg207Trp,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,;							MODIFIER	-/174		MYOV2_HUMAN			Transcript			.	ENSP00000475979		CCDS63183.1			1	
BIVM-ERCC5	0	LGGM	GRCh37	13	103459917	103459917	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	21	.	.	ENST00000257336.1:c.300A>G	p.Leu100=	p.L100=	ENST00000257336	NM_017693.3	100	ttA/ttG	0	1		UPI0002B83330	0		ENST00000602836		ENSG00000270181	43690		31			HGNC	p.L100L		BIVM-ERCC5		SNV							ENST00000257336	protein_coding			hmmpanther:PTHR16171		L		G		214/4155							YES	BIVM-ERCC5,synonymous_variant,p.=,ENST00000602836,NM_001204425.1;BIVM,synonymous_variant,p.=,ENST00000257336,NM_017693.3;BIVM,synonymous_variant,p.=,ENST00000419638,;BIVM,intron_variant,,ENST00000448849,NM_001159596.1;BIVM,non_coding_transcript_exon_variant,,ENST00000474443,;BIVM,downstream_gene_variant,,ENST00000491929,;BIVM,downstream_gene_variant,,ENST00000481069,;							LOW	216/4157					Transcript			.	ENSP00000473384					1	
HCN1	0	LGGM	GRCh37	5	45396726	45396726	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	34	21	.	.	ENST00000303230.4:c.1098A>T	p.Pro366=	p.P366=	ENST00000303230	NM_021072.3	366	ccA/ccT	0	1	1	UPI00001AED69	0		ENST00000303230		ENSG00000164588	4845		55			HGNC	p.P366P		HCN1		SNV			1				ENST00000303230	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF373,Superfamily_domains:SSF81324		P		A		1156/5405							YES	HCN1,synonymous_variant,p.=,ENST00000303230,NM_021072.3;							LOW	1098/2673		HCN1_HUMAN			Transcript			.	ENSP00000307342		CCDS3952.1			1	
OR4D6	0	LGGM	GRCh37	11	59224530	59224530	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	33	22	.	.	ENST00000300127.2:c.97G>A	p.Ala33Thr	p.A33T	ENST00000300127	NM_001004708.1	33	Gct/Act	0	1	1	UPI0000046487	0	getma.org/pdb.php?prot=OR4D6_HUMAN&from=1&to=138&var=A33T	ENST00000300127		ENSG00000166884	15175		55	0.475		HGNC	p.A33T		OR4D6		SNV							ENST00000300127	protein_coding	getma.org/?cm=var&var=hg19,11,59224530,G,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF300,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/T		A	neutral	120/1054		getma.org/?cm=msa&ty=f&p=OR4D6_HUMAN&rb=1&re=138&var=A33T	tolerated(0.11)				YES	OR4D6,missense_variant,p.Ala33Thr,ENST00000300127,NM_001004708.1;							MODERATE	97/945	A33T	OR4D6_HUMAN			Transcript		benign(0.003)	.	ENSP00000300127		CCDS31562.1			1	
WDR82	0	LGGM	GRCh37	3	52304740	52304740	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	45	22	.	.	ENST00000296490.3:c.247A>T	p.Asn83Tyr	p.N83Y	ENST00000296490	NM_025222.3	83	Aac/Tac	0	1	1	UPI00000EBAC2	0	NA	ENST00000296490		ENSG00000164091	28826		67	2.175		HGNC	p.N83Y		WDR82		SNV							ENST00000296490	protein_coding	getma.org/?cm=var&var=hg19,3,52304740,T,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19861,hmmpanther:PTHR19861:SF2,Superfamily_domains:SSF50978		N/Y		A	medium	529/4293		getma.org/?cm=msa&ty=f&p=WDR82_HUMAN&rb=50&re=96&var=N83Y	deleterious(0)	C9JBU3_HUMAN,C9J355_HUMAN			YES	WDR82,missense_variant,p.Asn83Tyr,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,;							MODERATE	247/942	N83Y	WDR82_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000296490		CCDS2851.2			1	
KIAA1462	0	LGGM	GRCh37	10	30318309	30318309	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	16	22	.	.	ENST00000375377.1:c.768T>G	p.Pro256=	p.P256=	ENST00000375377	NM_020848.2	256	ccT/ccG	0	1	1	UPI00001D8117	0		ENST00000375377		ENSG00000165757	29283		38			HGNC	p.P256P		KIAA1462		SNV							ENST00000375377	protein_coding			Pfam_domain:PF15351		P		C		870/9265							YES	KIAA1462,synonymous_variant,p.=,ENST00000375377,NM_020848.2;							LOW	768/4080		JCAD_HUMAN			Transcript			.	ENSP00000364526		CCDS41500.1			1	
ARL14	0	LGGM	GRCh37	3	160395421	160395421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	24	22	.	.	ENST00000320767.2:c.287G>T	p.Arg96Leu	p.R96L	ENST00000320767	NM_025047.2	96	cGa/cTa	0	1	1	UPI000007256C	0	getma.org/pdb.php?prot=ARL14_HUMAN&from=1&to=175&var=R96L	ENST00000320767		ENSG00000179674	22974		46	4.39		HGNC	p.R96L	rs749857278	ARL14		SNV							ENST00000320767	protein_coding	getma.org/?cm=var&var=hg19,3,160395421,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00025,Prints_domain:PR00328,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF29,SMART_domains:SM00175,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/L		T	high	474/1286	1.50E-05	getma.org/?cm=msa&ty=f&p=ARL14_HUMAN&rb=1&re=175&var=R96L	deleterious(0)				YES	ARL14,missense_variant,p.Arg96Leu,ENST00000320767,NM_025047.2;							MODERATE	287/579	R96L	ARL14_HUMAN			Transcript		possibly_damaging(0.669)	.	ENSP00000323847	8.24E-06	CCDS3192.1			1	
ASTN2	0	LGGM	GRCh37	9	119770417	119770417	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	10	22	.	.	ENST00000361209.2:c.1392A>G	p.Gly464=	p.G464=	ENST00000361209	NM_014010.4	464	ggA/ggG	0	1		UPI0000359605	0		ENST00000313400		ENSG00000148219	17021		32			HGNC	p.G464G		ASTN2		SNV							ENST00000361209	protein_coding			hmmpanther:PTHR16592		G		C		1646/4747				B7ZKP3_HUMAN,B2RCB6_HUMAN				ASTN2,synonymous_variant,p.=,ENST00000313400,;ASTN2,synonymous_variant,p.=,ENST00000373996,;ASTN2,synonymous_variant,p.=,ENST00000361209,NM_014010.4;ASTN2,synonymous_variant,p.=,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,;							LOW	1545/4020		ASTN2_HUMAN			Transcript			.	ENSP00000314038					1	
DCHS1	0	LGGM	GRCh37	11	6662112	6662112	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	35	23	.	.	ENST00000299441.3:c.733C>G	p.Leu245Val	p.L245V	ENST00000299441	NM_003737.2	245	Ctg/Gtg	0	1	1	UPI00001313B6	0	NA	ENST00000299441		ENSG00000166341	13681		58	-2.24		HGNC	p.L245V		DCHS1		SNV			1				ENST00000299441	protein_coding	getma.org/?cm=var&var=hg19,11,6662112,G,C&fts=all		Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_patterns:PS00232,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		L/V		C	neutral	1145/10763		getma.org/?cm=msa&ty=f&p=PCD16_HUMAN&rb=149&re=246&var=L245V	tolerated(1)				YES	DCHS1,missense_variant,p.Leu245Val,ENST00000299441,NM_003737.2;							MODERATE	733/9897	L245V	PCD16_HUMAN			Transcript		benign(0.07)	.	ENSP00000299441		CCDS7771.1			1	
SPATC1	0	LGGM	GRCh37	8	145094848	145094848	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	24	.	.	ENST00000377470.3:c.250C>T	p.Arg84Ter	p.R84*	ENST00000377470	NM_198572.2	84	Cga/Tga	0	1	1	UPI00001D8243	0	NA	ENST00000377470		ENSG00000186583	30510		51	0		HGNC	p.R84X	rs377746877	SPATC1		SNV	T:0						ENST00000447830	protein_coding	getma.org/?cm=var&var=hg19,8,145094848,C,T&fts=all		hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16,Pfam_domain:PF15058		R/*	T:0.0001	T	NA	352/1954	1.51E-05	NA					YES	SPATC1,stop_gained,p.Arg84Ter,ENST00000377470,NM_198572.2;SPATC1,stop_gained,p.Arg84Ter,ENST00000447830,NM_001134374.1;							HIGH	250/1776	R84*	SPERI_HUMAN			Transcript			.	ENSP00000366690	8.24E-06	CCDS6413.2			1	
TCF20	0	LGGM	GRCh37	22	42607274	42607274	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	22	24	.	.	ENST00000359486.3:c.4038A>G	p.Lys1346=	p.K1346=	ENST00000359486	NM_005650.2	1346	aaA/aaG	0	1	1	UPI00001A95D9	0		ENST00000359486		ENSG00000100207	11631		46			HGNC	p.K1346K		TCF20		SNV							ENST00000359486	protein_coding			hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7		K		C		4175/7410				I3L1M7_HUMAN			YES	TCF20,synonymous_variant,p.=,ENST00000359486,NM_005650.2;TCF20,synonymous_variant,p.=,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							LOW	4038/5883		TCF20_HUMAN			Transcript			.	ENSP00000352463		CCDS14033.1			1	
CXCR2	0	LGGM	GRCh37	2	218999829	218999829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	32	25	.	.	ENST00000318507.2:c.305C>A	p.Pro102His	p.P102H	ENST00000318507	NM_001557.3	102	cCc/cAc	0	1	1	UPI000004358A	0	getma.org/pdb.php?prot=CXCR2_HUMAN&from=65&to=314&var=P102H	ENST00000318507		ENSG00000180871	6027		57	4.655		HGNC	p.P102H		CXCR2		SNV			1				ENST00000453237	protein_coding	getma.org/?cm=var&var=hg19,2,218999829,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF63,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/H		A	high	732/2879		getma.org/?cm=msa&ty=f&p=CXCR2_HUMAN&rb=65&re=314&var=P102H	deleterious(0)	Q53PC4_HUMAN,C9JW47_HUMAN,C9JG19_HUMAN,C9J2F9_HUMAN,C9J1J7_HUMAN			YES	CXCR2,missense_variant,p.Pro102His,ENST00000318507,NM_001557.3;CXCR2,missense_variant,p.Pro102His,ENST00000453237,NM_001168298.1;CXCR2,missense_variant,p.Pro102His,ENST00000428565,;CXCR2,missense_variant,p.Pro102His,ENST00000454148,;CXCR2,missense_variant,p.Pro102His,ENST00000415392,;CXCR2,downstream_gene_variant,,ENST00000449014,;CXCR2,downstream_gene_variant,,ENST00000418878,;							MODERATE	305/1083	P102H	CXCR2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000319635		CCDS2408.1			1	
ASXL1	0	LGGM	GRCh37	20	31021447	31021447	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	95	25	.	.	ENST00000375687.4:c.1446A>T	p.Pro482=	p.P482=	ENST00000375687	NM_015338.5	482	ccA/ccT	0	1	1	UPI000036702C	0		ENST00000375687		ENSG00000171456	18318		120			HGNC	p.P482P		ASXL1		SNV			1				ENST00000375687	protein_coding			hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		P		T		1870/7031							YES	ASXL1,synonymous_variant,p.=,ENST00000375687,NM_015338.5;ASXL1,synonymous_variant,p.=,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000470145,;ASXL1,downstream_gene_variant,,ENST00000555564,;							LOW	1446/4626		ASXL1_HUMAN			Transcript			.	ENSP00000364839		CCDS13201.1			1	
GARIN1B	0	LGGM	GRCh37	7	128355618	128355618	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	28	25	.	.	ENST00000315184.5:c.123T>A	p.Pro41=	p.P41=	ENST00000315184	NM_032599.2	41	ccT/ccA	0	1	1	UPI000006D961	0		ENST00000315184		ENSG00000135248	30704		53			HGNC	p.P41P		FAM71F1		SNV							ENST00000483459	protein_coding			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF10		P		A		176/1718				H7C4R1_HUMAN			YES	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,;							LOW	123/1035		F71F1_HUMAN			Transcript			.	ENSP00000326652		CCDS5804.1			1	
C18orf54	0	LGGM	GRCh37	18	51889228	51889228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	25	.	.	ENST00000300091.5:c.677A>G	p.Asp226Gly	p.D226G	ENST00000300091	NM_173529.4	226	gAc/gGc	0	1	1	UPI0000074279	0	NA	ENST00000300091		ENSG00000166845	13796	0.00026	48	1.385		HGNC	p.D387G	rs762592758	C18orf54		SNV							ENST00000382911	protein_coding	getma.org/?cm=var&var=hg19,18,51889228,A,G&fts=all				D/G		G	low	1009/5237		getma.org/?cm=msa&ty=f&p=LAS2_HUMAN&rb=201&re=372&var=D226G	tolerated(1)	J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN			YES	C18orf54,missense_variant,p.Asp226Gly,ENST00000300091,NM_173529.4;C18orf54,missense_variant,p.Asp387Gly,ENST00000382911,;C18orf54,missense_variant,p.Asp5Gly,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000582188,;							MODERATE	677/1119	D226G	LAS2_HUMAN			Transcript		benign(0.149)	.	ENSP00000300091	2.47E-05	CCDS11956.1			1	
KCNS2	0	LGGM	GRCh37	8	99441492	99441492	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	60	26	.	.	ENST00000287042.4:c.1285del	p.Ser429AlafsTer8	p.S429Afs*8	ENST00000287042	NM_020697.2	429	Agc/gc	0	1	1	UPI0000001653	0		ENST00000287042		ENSG00000156486	6301		86			HGNC	p.S429fs		KCNS2		deletion							ENST00000521839	protein_coding			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF60		S/X		-		1635/5219							YES	KCNS2,frameshift_variant,p.Ser429AlafsTer8,ENST00000287042,NM_020697.2;KCNS2,frameshift_variant,p.Ser429AlafsTer8,ENST00000521839,;STK3,intron_variant,,ENST00000517832,;							HIGH	1285/1434		KCNS2_HUMAN			Transcript			.	ENSP00000287042		CCDS6279.1			1	
POLQ	0	LGGM	GRCh37	3	121208807	121208807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	20	27	.	.	ENST00000264233.5:c.2971C>T	p.Arg991Trp	p.R991W	ENST00000264233	NM_199420.3	991	Cgg/Tgg	0	1	1	UPI0000D61B5F	0	NA	ENST00000264233		ENSG00000051341	9186		47	0.695		HGNC	p.R991W	rs752913920	POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121208807,G,A&fts=all				R/W		A	neutral	3100/8775	1.52E-05	getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=886&re=1085&var=R991W	tolerated_low_confidence(0.11)				YES	POLQ,missense_variant,p.Arg991Trp,ENST00000264233,NM_199420.3;RPL7AP11,upstream_gene_variant,,ENST00000486538,;							MODERATE	2971/7773	R991W	DPOLQ_HUMAN			Transcript		benign(0.001)	.	ENSP00000264233	8.24E-06	CCDS33833.1			1	
ZNF547	0	LGGM	GRCh37	19	57889088	57889088	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	22	27	.	.	ENST00000282282.3:c.744G>T	p.Leu248Phe	p.L248F	ENST00000282282	NM_173631.2	248	ttG/ttT	0	1	1	UPI00001609AA	0	getma.org/pdb.php?prot=ZN547_HUMAN&from=226&to=249&var=L248F	ENST00000282282		ENSG00000152433	26432		49	1.095		HGNC	p.L248F		ZNF547		SNV							ENST00000282282	protein_coding	getma.org/?cm=var&var=hg19,19,57889088,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF39,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/F		T	low	894/2739		getma.org/?cm=msa&ty=f&p=ZN547_HUMAN&rb=206&re=269&var=L248F	tolerated(0.76)	M0QX63_HUMAN			YES	ZNF547,missense_variant,p.Leu248Phe,ENST00000282282,NM_173631.2;AC003002.4,intron_variant,,ENST00000597658,;ZNF547,downstream_gene_variant,,ENST00000597567,;ZNF547,downstream_gene_variant,,ENST00000595335,;							MODERATE	744/1209	L248F	ZN547_HUMAN			Transcript		possibly_damaging(0.46)	.	ENSP00000282282		CCDS33131.1			1	
OR2T6	0	LGGM	GRCh37	1	248550988	248550988	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	47	27	.	.	ENST00000355728.2:c.79T>C	p.Phe27Leu	p.F27L	ENST00000355728	NM_001005471.1	27	Ttt/Ctt	0	1	1	UPI0000199147	0	getma.org/pdb.php?prot=OR2T6_HUMAN&from=1&to=138&var=F27L	ENST00000355728		ENSG00000198104	15018		74	-1.465		HGNC	p.F27L	COSM680375	OR2T6		SNV						1	ENST00000355728	protein_coding	getma.org/?cm=var&var=hg19,1,248550988,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		F/L		C	neutral	79/927		getma.org/?cm=msa&ty=f&p=OR2T6_HUMAN&rb=1&re=138&var=F27L	tolerated(1)				YES	OR2T6,missense_variant,p.Phe27Leu,ENST00000355728,NM_001005471.1;					1		MODERATE	79/927	F27L	OR2T6_HUMAN			Transcript		benign(0.001)	.	ENSP00000347965		CCDS31114.1			1	
CD200	0	LGGM	GRCh37	3	112066488	112066488	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	33	27	.	.	ENST00000473539.1:c.580A>G	p.Met194Val	p.M194V	ENST00000473539	NM_001004196.2	194	Atg/Gtg	0	1	1	UPI00004DF0E4	0	NA	ENST00000473539		ENSG00000091972	7203		60	-0.345		HGNC	p.M95V		CD200		SNV							ENST00000383681	protein_coding	getma.org/?cm=var&var=hg19,3,112066488,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49,Superfamily_domains:SSF48726		M/V		G	neutral	637/1524		getma.org/?cm=msa&ty=f&p=OX2G_HUMAN&rb=153&re=223&var=M169V	tolerated(0.78)	U3KQQ2_HUMAN,F8W7G1_HUMAN			YES	CD200,missense_variant,p.Met169Val,ENST00000315711,NM_005944.5;CD200,missense_variant,p.Met95Val,ENST00000383681,;CD200,missense_variant,p.Met194Val,ENST00000473539,NM_001004196.2;CD200,missense_variant,p.Met140Val,ENST00000606471,;CD200,downstream_gene_variant,,ENST00000607597,;CD200,3_prime_UTR_variant,,ENST00000478595,;CD200,3_prime_UTR_variant,,ENST00000498096,;							MODERATE	580/885	M169V	OX2G_HUMAN			Transcript		benign(0.001)	.	ENSP00000420298		CCDS33818.1			1	
ZNF808	0	LGGM	GRCh37	19	53057064	53057064	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	108	28	.	.	ENST00000359798.4:c.895A>T	p.Lys299Ter	p.K299*	ENST00000359798	NM_001039886.3	299	Aag/Tag	0	1	1	UPI000041AA80	0	NA	ENST00000359798		ENSG00000198482	33230		136	0		HGNC	p.K230X		ZNF808		SNV							ENST00000487863	protein_coding	getma.org/?cm=var&var=hg19,19,53057064,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/*		T	NA	1075/3600		NA		C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN			YES	ZNF808,stop_gained,p.Lys299Ter,ENST00000359798,NM_001039886.3;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,stop_gained,p.Lys230Ter,ENST00000487863,;							HIGH	895/2712	K299*	ZN808_HUMAN			Transcript			.	ENSP00000352846		CCDS46167.1			1	
HAT1	0	LGGM	GRCh37	2	172822347	172822347	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	71	28	.	.	ENST00000264108.4:c.529A>G	p.Arg177Gly	p.R177G	ENST00000264108	NM_003642.3	177	Agg/Ggg	0	1	1	UPI000012C0B2	0	getma.org/pdb.php?prot=HAT1_HUMAN&from=26&to=187&var=R177G	ENST00000264108		ENSG00000128708	4821		99	3.22		HGNC	p.R92G		HAT1		SNV							ENST00000392584	protein_coding	getma.org/?cm=var&var=hg19,2,172822347,A,G&fts=all		hmmpanther:PTHR12046,Pfam_domain:PF10394,Gene3D:3.40.630.30,PIRSF_domain:PIRSF038084,Superfamily_domains:SSF55729		R/G		G	medium	565/1626		getma.org/?cm=msa&ty=f&p=HAT1_HUMAN&rb=26&re=187&var=R177G	deleterious(0)				YES	HAT1,missense_variant,p.Arg177Gly,ENST00000264108,NM_003642.3;HAT1,missense_variant,p.Arg92Gly,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,;							MODERATE	529/1260	R177G	HAT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264108		CCDS2245.1			1	
OR5P3	0	LGGM	GRCh37	11	7846722	7846722	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	29	.	.	ENST00000328375.1:c.798C>T	p.Tyr266=	p.Y266=	ENST00000328375	NM_153445.1	266	taC/taT	0	1	1	UPI000004B1F2	0		ENST00000328375		ENSG00000182334	14784		56			HGNC	p.Y266Y		OR5P3		SNV							ENST00000328375	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF90,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Y		A		798/936							YES	OR5P3,synonymous_variant,p.=,ENST00000328375,NM_153445.1;RP11-35J10.5,intron_variant,,ENST00000527565,;RP11-494M8.4,intron_variant,,ENST00000529488,;							LOW	798/936		OR5P3_HUMAN			Transcript			.	ENSP00000332068		CCDS7783.1			1	
DMD	0	LGGM	GRCh37	X	31747867	31747867	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	9	31	.	.	ENST00000357033.4:c.7543-2A>T		p.X2515_splice	ENST00000357033	NM_004007.2			0	1	1	UPI000049E111	0		ENST00000357033		ENSG00000198947	2928		40			HGNC	-		DMD		SNV			1				ENST00000358062	protein_coding							A		-/13956				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			YES	DMD,splice_acceptor_variant,,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,splice_acceptor_variant,,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,splice_acceptor_variant,,ENST00000378707,NM_004013.2,NM_004014.2;DMD,splice_acceptor_variant,,ENST00000359836,NM_004022.2;DMD,splice_acceptor_variant,,ENST00000541735,NM_004020.3;DMD,splice_acceptor_variant,,ENST00000343523,NM_004023.2;DMD,splice_acceptor_variant,,ENST00000358062,;DMD,splice_acceptor_variant,,ENST00000474231,NM_004021.2;DMD,splice_acceptor_variant,,ENST00000471779,;							HIGH	7543/11058					Transcript			.	ENSP00000354923		CCDS14233.1			1	
LPHN3	0	LGGM	GRCh37	4	62849264	62849264	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	78	31	.	.	ENST00000514591.1:c.2975C>T	p.Ala992Val	p.A992V	ENST00000514591		992	gCa/gTa	0	1	1	UPI00016278EF	0	NA	ENST00000514591		ENSG00000150471	20974		109	1.615		HGNC	p.A992V		LPHN3		SNV							ENST00000514157	protein_coding	getma.org/?cm=var&var=hg19,4,62849264,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249		A/V		T	low	3304/6297		getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=861&re=1097&var=A979V	deleterious(0.04)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Ala992Val,ENST00000512091,;LPHN3,missense_variant,p.Ala992Val,ENST00000514591,;LPHN3,missense_variant,p.Ala992Val,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Ala1060Val,ENST00000509896,;LPHN3,missense_variant,p.Ala1060Val,ENST00000511324,;LPHN3,missense_variant,p.Ala1060Val,ENST00000508693,;LPHN3,missense_variant,p.Ala1060Val,ENST00000507164,;LPHN3,missense_variant,p.Ala1060Val,ENST00000506720,;LPHN3,missense_variant,p.Ala1060Val,ENST00000506746,;LPHN3,missense_variant,p.Ala1060Val,ENST00000507625,;LPHN3,missense_variant,p.Ala992Val,ENST00000506700,;LPHN3,missense_variant,p.Ala992Val,ENST00000504896,;LPHN3,missense_variant,p.Ala992Val,ENST00000514157,;LPHN3,missense_variant,p.Ala992Val,ENST00000508946,;LPHN3,missense_variant,p.Ala992Val,ENST00000514996,;LPHN3,missense_variant,p.Ala450Val,ENST00000502815,;							MODERATE	2975/4410	A979V				Transcript		probably_damaging(0.991)	.	ENSP00000422533		CCDS54768.1			1	
SPECC1	0	LGGM	GRCh37	17	20163555	20163555	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	28	32	.	.	ENST00000261503.5:c.2888C>T	p.Ser963Phe	p.S963F	ENST00000261503	NM_001033553.2	963	tCc/tTc	0	1	1	UPI000020187D	0	getma.org/pdb.php?prot=CYTSB_HUMAN&from=962&to=1064&var=S963F	ENST00000261503		ENSG00000128487	30615		60	3.045		HGNC	p.S963F		SPECC1		SNV							ENST00000395527	protein_coding	getma.org/?cm=var&var=hg19,17,20163555,C,T&fts=all		Gene3D:1.10.418.10,PROSITE_profiles:PS50021,hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF3,Superfamily_domains:SSF47576		S/F		T	medium	2939/3948		getma.org/?cm=msa&ty=f&p=CYTSB_HUMAN&rb=962&re=1064&var=S963F	deleterious(0)	J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN			YES	SPECC1,missense_variant,p.Ser882Phe,ENST00000395530,NM_001033555.2;SPECC1,missense_variant,p.Ser963Phe,ENST00000261503,NM_001033553.2;SPECC1,missense_variant,p.Ser963Phe,ENST00000395527,NM_001243439.1;SPECC1,missense_variant,p.Ser468Phe,ENST00000581399,;SPECC1,missense_variant,p.Ser303Phe,ENST00000536879,;AC004702.2,intron_variant,,ENST00000580225,;							MODERATE	2888/3207	S963F	CYTSB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261503		CCDS32590.1			1	
CENPF	0	LGGM	GRCh37	1	214819199	214819199	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	30	33	.	.	ENST00000366955.3:c.6286G>A	p.Ala2096Thr	p.A2096T	ENST00000366955	NM_016343.3	2096	Gca/Aca	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		63	1.95		HGNC	p.A2096T	rs371317728	CENPF		SNV	A:0						ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214819199,G,A&fts=all		hmmpanther:PTHR18874		A/T	A:0.0001	A	medium	6454/10307	9.07E-05	getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=2089&re=2226&var=A2192T					YES	CENPF,missense_variant,p.Ala2096Thr,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000467765,;							MODERATE	6286/9345	A2192T	CENPF_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355922	4.94E-05	CCDS31023.1			1	
USP8	0	LGGM	GRCh37	15	50786440	50786440	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	62	33	.	.	ENST00000433963.1:c.2621T>A	p.Leu874Gln	p.L874Q	ENST00000433963	NM_001128611.1	874	cTg/cAg	0	1		UPI0000030306	0	getma.org/pdb.php?prot=UBP8_HUMAN&from=774&to=1106&var=L874Q	ENST00000307179		ENSG00000138592	12631		95	0.705		HGNC	p.L874Q		USP8		SNV			1				ENST00000433963	protein_coding	getma.org/?cm=var&var=hg19,15,50786440,T,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350,Pfam_domain:PF00443,Superfamily_domains:SSF54001		L/Q		A	neutral	2819/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=774&re=1106&var=L874Q	deleterious(0)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Leu874Gln,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Leu874Gln,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Leu874Gln,ENST00000307179,;USP8,missense_variant,p.Leu768Gln,ENST00000425032,NM_001283049.1;RP11-562A8.5,intron_variant,,ENST00000560159,;RP11-562A8.4,downstream_gene_variant,,ENST00000560380,;USP8,non_coding_transcript_exon_variant,,ENST00000419830,;USP8,upstream_gene_variant,,ENST00000560379,;USP8,downstream_gene_variant,,ENST00000561206,;							MODERATE	2621/3357	L874Q	UBP8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302239		CCDS10137.1			1	
NOL8	0	LGGM	GRCh37	9	95077099	95077099	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	41	33	.	.	ENST00000545558.1:c.1808T>A	p.Met603Lys	p.M603K	ENST00000545558		603	aTg/aAg	0	1		UPI0000211A3D	0	NA	ENST00000442668		ENSG00000198000	23387		74	0		HGNC	p.M603K		NOL8		SNV							ENST00000535387	protein_coding	getma.org/?cm=var&var=hg19,9,95077099,A,T&fts=all		hmmpanther:PTHR16274,hmmpanther:PTHR16274:SF8		M/K		T	neutral	2107/4281		getma.org/?cm=msa&ty=f&p=NOL8_HUMAN&rb=484&re=683&var=M603K	deleterious(0)	F8WE42_HUMAN,F5H8B8_HUMAN,F5H7D5_HUMAN,F5H797_HUMAN,F5H692_HUMAN,F5H540_HUMAN,F5GWN9_HUMAN				NOL8,missense_variant,p.Met603Lys,ENST00000545558,;NOL8,missense_variant,p.Met603Lys,ENST00000442668,NM_017948.5;NOL8,missense_variant,p.Met535Lys,ENST00000358855,NM_001256394.1;NOL8,missense_variant,p.Met535Lys,ENST00000542053,;NOL8,missense_variant,p.Met603Lys,ENST00000535387,;NOL8,missense_variant,p.Met603Lys,ENST00000432670,;NOL8,downstream_gene_variant,,ENST00000433029,;NOL8,downstream_gene_variant,,ENST00000421075,;NOL8,downstream_gene_variant,,ENST00000535807,;NOL8,downstream_gene_variant,,ENST00000411621,;NOL8,downstream_gene_variant,,ENST00000536624,;NOL8,downstream_gene_variant,,ENST00000542613,;NOL8,missense_variant,p.Met603Lys,ENST00000544867,;NOL8,3_prime_UTR_variant,,ENST00000360868,;NOL8,3_prime_UTR_variant,,ENST00000536593,;NOL8,3_prime_UTR_variant,,ENST00000434228,;NOL8,intron_variant,,ENST00000545444,;NOL8,downstream_gene_variant,,ENST00000445919,;NOL8,downstream_gene_variant,,ENST00000467230,;NOL8,downstream_gene_variant,,ENST00000543260,;NOL8,downstream_gene_variant,,ENST00000542573,;NOL8,upstream_gene_variant,,ENST00000538802,;							MODERATE	1808/3504	M603K	NOL8_HUMAN			Transcript		benign(0.033)	.	ENSP00000401177		CCDS47993.1			1	
NCAPD3	0	LGGM	GRCh37	11	134048804	134048804	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	32	33	.	.	ENST00000534548.2:c.2587A>G	p.Ile863Val	p.I863V	ENST00000534548	NM_015261.2	863	Ata/Gta	0	1	1	UPI00001C1EFE	0	NA	ENST00000534548		ENSG00000151503	28952		65	0		HGNC	p.I863V		NCAPD3		SNV							ENST00000534532	protein_coding	getma.org/?cm=var&var=hg19,11,134048804,T,C&fts=all		Gene3D:1.25.10.10,PIRSF_domain:PIRSF036508,hmmpanther:PTHR14222,hmmpanther:PTHR14222:SF1,Superfamily_domains:SSF48371		I/V		C	neutral	2652/5061		getma.org/?cm=msa&ty=f&p=CNDD3_HUMAN&rb=801&re=953&var=I863V	tolerated(1)	Q96FA6_HUMAN,E9PLE0_HUMAN,E9PL84_HUMAN			YES	NCAPD3,missense_variant,p.Ile863Val,ENST00000534548,NM_015261.2;NCAPD3,upstream_gene_variant,,ENST00000530396,;RP11-700F16.3,non_coding_transcript_exon_variant,,ENST00000531710,;NCAPD3,missense_variant,p.Ile863Val,ENST00000534532,;NCAPD3,3_prime_UTR_variant,,ENST00000525964,;NCAPD3,non_coding_transcript_exon_variant,,ENST00000534290,;							MODERATE	2587/4497	I863V	CNDD3_HUMAN			Transcript		benign(0.002)	.	ENSP00000433681		CCDS31723.1			1	
TRGV5	0	LGGM	GRCh37	7	38389118	38389118	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	27	36	.	.	ENST00000390344.2:c.192T>C	p.Arg64=	p.R64=	ENST00000390344		64	cgT/cgC	0	1	1	UPI0000114498	0		ENST00000390344		ENSG00000211697	12290		63			HGNC	p.R64R		TRGV5		SNV							ENST00000390344	TR_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19256,hmmpanther:PTHR19256:SF22,Superfamily_domains:SSF48726		R		G		390/552				A2NUW5_HUMAN			YES	TRGV5,synonymous_variant,p.=,ENST00000390344,;TRGV4,downstream_gene_variant,,ENST00000390345,;TRGV5P,upstream_gene_variant,,ENST00000419915,;							LOW	192/354					Transcript			.	ENSP00000374867					1	
PGR	0	LGGM	GRCh37	11	100933256	100933256	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	45	36	.	.	ENST00000325455.5:c.2134A>T	p.Ser712Cys	p.S712C	ENST00000325455	NM_001202474.3	712	Agt/Tgt	0	1	1	UPI0000046E22	0	getma.org/pdb.php?prot=PRGR_HUMAN&from=698&to=909&var=S712C	ENST00000325455		ENSG00000082175	8910		81	2.085		HGNC	p.S673C		PGR		SNV							ENST00000528960	protein_coding	getma.org/?cm=var&var=hg19,11,100933256,T,A&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF48508		S/C		A	medium	3588/13748		getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=698&re=909&var=S712C	deleterious(0.01)	Q6TZ07_HUMAN			YES	PGR,missense_variant,p.Ser712Cys,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Ser118Cys,ENST00000534013,;PGR,intron_variant,,ENST00000263463,NM_001271161.2;PGR,missense_variant,p.Ser712Cys,ENST00000534780,;PGR,missense_variant,p.Ser673Cys,ENST00000528960,;PGR,non_coding_transcript_exon_variant,,ENST00000533207,;PGR,intron_variant,,ENST00000526300,;							MODERATE	2134/2802	S712C	PRGR_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000325120		CCDS8310.1			1	
OTOGL	0	LGGM	GRCh37	12	80747188	80747188	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	44	36	.	.	ENST00000458043.2:c.5464G>T	p.Gly1822Ter	p.G1822*	ENST00000458043	NM_173591.3	1822	Gga/Tga	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901		80	0		HGNC	p.G1810X		OTOGL		SNV			1				ENST00000547103	protein_coding	getma.org/?cm=var&var=hg19,12,80747188,G,T&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Superfamily_domains:SSF57567		G/*		T	NA	5434/8032		NA		E2QRK2_HUMAN				OTOGL,stop_gained,p.Gly1822Ter,ENST00000458043,NM_173591.3;OTOGL,stop_gained,p.Gly1810Ter,ENST00000547103,;OTOGL,stop_gained,p.Gly265Ter,ENST00000298820,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;							HIGH	5428/6999	G187*	OTOGL_HUMAN			Transcript			.	ENSP00000447211					1	
VCAN	0	LGGM	GRCh37	5	82849281	82849281	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	42	37	.	.	ENST00000265077.3:c.9592C>G	p.Arg3198Gly	p.R3198G	ENST00000265077	NM_004385.4	3198	Cgt/Ggt	0	1	1	UPI000013178B	0	getma.org/pdb.php?prot=CSPG2_HUMAN&from=3186&to=3291&var=R3198G	ENST00000265077		ENSG00000038427	2464		79	1.955		HGNC	p.R457G		VCAN		SNV			1				ENST00000502527	protein_coding	getma.org/?cm=var&var=hg19,5,82849281,C,G&fts=all		Superfamily_domains:SSF56436,SMART_domains:SM00034,Pfam_domain:PF00059,Gene3D:3.10.100.10,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50041		R/G		G	medium	10157/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=3186&re=3291&var=R3198G	deleterious(0)				YES	VCAN,missense_variant,p.Arg3198Gly,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Arg2211Gly,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Arg1444Gly,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Arg1396Gly,ENST00000512590,;VCAN,missense_variant,p.Arg457Gly,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,;							MODERATE	9592/10191	R3198G	CSPG2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000265077		CCDS4060.1			1	
OR10A6	0	LGGM	GRCh37	11	7950009	7950009	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	69	38	.	.	ENST00000309838.2:c.201T>A	p.Ser67=	p.S67=	ENST00000309838	NM_001004461.1	67	tcT/tcA	0	1	1	UPI0000041DF4	0		ENST00000309838		ENSG00000175393	15132		107			HGNC	p.S67S		OR10A6		SNV							ENST00000309838	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF30,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S		T		201/1030							YES	OR10A6,synonymous_variant,p.=,ENST00000309838,NM_001004461.1;							LOW	201/945		O10A6_HUMAN			Transcript			.	ENSP00000312470		CCDS31420.1			1	
OR51A7	0	LGGM	GRCh37	11	4928941	4928941	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	49	40	.	.	ENST00000359350.4:c.342A>T	p.Val114=	p.V114=	ENST00000359350	NM_001004749.1	114	gtA/gtT	0	1	1	UPI0000041C23	0		ENST00000359350		ENSG00000176895	15188		89			HGNC	p.V114V		OR51A7		SNV							ENST00000359350	protein_coding			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26450:SF114,hmmpanther:PTHR26450,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		V		T		342/939							YES	OR51A7,synonymous_variant,p.=,ENST00000359350,NM_001004749.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							LOW	342/939		O51A7_HUMAN			Transcript			.	ENSP00000352305		CCDS31364.1			1	
HECW2	0	LGGM	GRCh37	2	197187287	197187287	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	41	40	.	.	ENST00000260983.3:c.799T>G	p.Phe267Val	p.F267V	ENST00000260983	NM_020760.1	267	Ttt/Gtt	0	1	1	UPI00001A75E8	0	NA	ENST00000260983		ENSG00000138411	29853		81	2.3		HGNC	p.F267V		HECW2		SNV							ENST00000260983	protein_coding	getma.org/?cm=var&var=hg19,2,197187287,A,C&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		F/V		C	medium	982/11809		getma.org/?cm=msa&ty=f&p=HECW2_HUMAN&rb=187&re=282&var=F267V	deleterious(0)	C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,missense_variant,p.Phe267Val,ENST00000260983,NM_020760.1;HECW2,5_prime_UTR_variant,,ENST00000409111,;							MODERATE	799/4719	F267V	HECW2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000260983		CCDS33354.1			1	
LIPA	0	LGGM	GRCh37	10	90984987	90984987	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	99	44	.	.	ENST00000336233.5:c.539-2A>T		p.X180_splice	ENST00000336233				0	1	1	UPI000013C851	0		ENST00000336233		ENSG00000107798	6617		143			HGNC	-		LIPA		SNV			1				ENST00000371837	protein_coding							A		-/2782				Q5T770_HUMAN,Q5T073_HUMAN,B4DE67_HUMAN			YES	LIPA,splice_acceptor_variant,,ENST00000336233,;LIPA,splice_acceptor_variant,,ENST00000456827,NM_000235.2,NM_001127605.1;LIPA,splice_acceptor_variant,,ENST00000371837,;LIPA,splice_acceptor_variant,,ENST00000428800,;LIPA,splice_acceptor_variant,,ENST00000282673,;							HIGH	539/1200		LICH_HUMAN			Transcript			.	ENSP00000337354		CCDS7401.1			1	
ZDHHC17	0	LGGM	GRCh37	12	77216277	77216277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	38	46	.	.	ENST00000426126.2:c.863A>G	p.Asn288Ser	p.N288S	ENST00000426126	NM_015336.2	288	aAt/aGt	0	1	1	UPI0000051F55	0	NA	ENST00000426126		ENSG00000186908	18412		84	0.445		HGNC	p.N288S	rs377127641	ZDHHC17		SNV	G:0						ENST00000426126	protein_coding	getma.org/?cm=var&var=hg19,12,77216277,A,G&fts=all		hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18		N/S	G:0.0001	G	neutral	1512/5259	0.000212	getma.org/?cm=msa&ty=f&p=ZDH17_HUMAN&rb=194&re=288&var=N288S	tolerated(0.37)	A8KA01_HUMAN			YES	ZDHHC17,missense_variant,p.Asn288Ser,ENST00000426126,NM_015336.2;ZDHHC17,missense_variant,p.Asn288Ser,ENST00000334822,;ZDHHC17,missense_variant,p.Asn125Ser,ENST00000550876,;ZDHHC17,downstream_gene_variant,,ENST00000359019,;ZDHHC17,3_prime_UTR_variant,,ENST00000546778,;ZDHHC17,3_prime_UTR_variant,,ENST00000552453,;ZDHHC17,3_prime_UTR_variant,,ENST00000550163,;ZDHHC17,downstream_gene_variant,,ENST00000549944,;	0.00015						MODERATE	863/1899	N288S	ZDH17_HUMAN			Transcript		benign(0.002)	.	ENSP00000403397	0.000108	CCDS44946.1			1	
SAMD9L	0	LGGM	GRCh37	7	92761173	92761173	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	45	48	.	.	ENST00000318238.4:c.4112A>G	p.Asn1371Ser	p.N1371S	ENST00000318238	NM_152703.2	1371	aAc/aGc	0	1	1	UPI000020F567	0	NA	ENST00000318238		ENSG00000177409	1349		93	1.245		HGNC	p.N1371S		SAMD9L		SNV							ENST00000437805	protein_coding	getma.org/?cm=var&var=hg19,7,92761173,T,C&fts=all		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		N/S		C	low	5329/7134		getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=N1371S	tolerated(0.75)	B4E3M1_HUMAN			YES	SAMD9L,missense_variant,p.Asn1371Ser,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Asn1371Ser,ENST00000411955,;SAMD9L,missense_variant,p.Asn1371Ser,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;							MODERATE	4112/4755	N1371S	SAM9L_HUMAN			Transcript		benign(0.004)	.	ENSP00000326247		CCDS34681.1			1	
C12orf55	0	LGGM	GRCh37	12	97078514	97078514	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	39	49	.	.	ENST00000524981.4:c.5804+1G>C		p.X1935_splice	ENST00000524981				0	1	1	UPI0001F77A4D	0		ENST00000524981		ENSG00000188596	26456		88			HGNC	-		C12orf55		SNV							ENST00000524981	protein_coding							C		-/9766				R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,splice_donor_variant,,ENST00000524981,;C12orf55,splice_donor_variant,,ENST00000342887,;							HIGH	5804/9291					Transcript			.	ENSP00000431759					1	
COQ5	0	LGGM	GRCh37	12	120941870	120941870	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	93	49	.	.	ENST00000288532.6:c.785A>G	p.Tyr262Cys	p.Y262C	ENST00000288532	NM_032314.3	262	tAt/tGt	0	1	1	UPI00001592AF	0	getma.org/pdb.php?prot=COQ5_HUMAN&from=57&to=326&var=Y262C	ENST00000288532		ENSG00000110871	28722		142	3.665		HGNC	p.Y181C		COQ5		SNV							ENST00000552443	protein_coding	getma.org/?cm=var&var=hg19,12,120941870,T,C&fts=all		PROSITE_profiles:PS51608,HAMAP:MF_01813,hmmpanther:PTHR10108:SF24,hmmpanther:PTHR10108,TIGRFAM_domain:TIGR01934,Gene3D:3.40.50.150,Pfam_domain:PF01209,Superfamily_domains:SSF53335		Y/C		C	high	826/1535		getma.org/?cm=msa&ty=f&p=COQ5_HUMAN&rb=57&re=326&var=Y262C	deleterious(0)	F8VVX6_HUMAN,F8VP53_HUMAN			YES	COQ5,missense_variant,p.Tyr262Cys,ENST00000288532,NM_032314.3;COQ5,missense_variant,p.Tyr188Cys,ENST00000445328,;COQ5,missense_variant,p.Tyr181Cys,ENST00000552443,;Y_RNA,downstream_gene_variant,,ENST00000410669,;							MODERATE	785/984	Y262C	COQ5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288532		CCDS31912.1			1	
ZEB2	0	LGGM	GRCh37	2	145156523	145156523	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	52	49	.	.	ENST00000558170.2:c.2231T>C	p.Ile744Thr	p.I744T	ENST00000558170	NM_014795.3	744	aTa/aCa	0	1		UPI00001359A2	0	NA	ENST00000409487		ENSG00000169554	14881		101	0.49		HGNC	p.I744T		ZEB2		SNV			1				ENST00000303660	protein_coding	getma.org/?cm=var&var=hg19,2,145156523,A,G&fts=all		hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2		I/T		G	neutral	2419/5283		getma.org/?cm=msa&ty=f&p=ZEB2_HUMAN&rb=648&re=895&var=I744T	tolerated(0.76)	U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN				ZEB2,missense_variant,p.Ile744Thr,ENST00000558170,NM_014795.3;ZEB2,missense_variant,p.Ile744Thr,ENST00000409487,;ZEB2,missense_variant,p.Ile720Thr,ENST00000539609,NM_001171653.1;ZEB2,missense_variant,p.Ile744Thr,ENST00000303660,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;							MODERATE	2231/3645	I744T	ZEB2_HUMAN			Transcript		benign(0.142)	.	ENSP00000386854		CCDS2186.1			1	
OR5L1	0	LGGM	GRCh37	11	55579158	55579158	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	94	50	.	.	ENST00000333973.2:c.216C>T	p.Cys72=	p.C72=	ENST00000333973	NM_001004738.1	72	tgC/tgT	0	1	1	UPI0000041864	0		ENST00000333973		ENSG00000186117	8350		144			HGNC	p.C72C		OR5L1		SNV							ENST00000333973	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		C		T		305/1099							YES	OR5L1,synonymous_variant,p.=,ENST00000333973,NM_001004738.1;							LOW	216/936		OR5L1_HUMAN			Transcript			.	ENSP00000335529		CCDS31509.1			1	
CENPI	0	LGGM	GRCh37	X	100383779	100383779	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	16	52	.	.	ENST00000372927.1:c.1149A>T	p.Pro383=	p.P383=	ENST00000372927	NM_006733.2	383	ccA/ccT	0	1	1	UPI000004A007	0		ENST00000372927		ENSG00000102384	3968		68			HGNC	p.P383P		CENPI		SNV							ENST00000372927	protein_coding			Pfam_domain:PF07778,hmmpanther:PTHR15408		P		T		1426/3262				Q5JX02_HUMAN,Q5JX01_HUMAN			YES	CENPI,synonymous_variant,p.=,ENST00000372927,NM_006733.2;CENPI,synonymous_variant,p.=,ENST00000423383,;CENPI,synonymous_variant,p.=,ENST00000218507,;CENPI,synonymous_variant,p.=,ENST00000372926,;							LOW	1149/2271		CENPI_HUMAN			Transcript			.	ENSP00000362018		CCDS14479.1			1	
RB1	0	LGGM	GRCh37	13	48941669	48941669	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	20	52	.	.	ENST00000267163.4:c.979A>T	p.Lys327Ter	p.K327*	ENST00000267163	NM_000321.2	327	Aaa/Taa	0	1	1	UPI0000001C79	0	NA	ENST00000267163		ENSG00000139687	9884		72	0		HGNC	p.K327*		RB1		SNV			1				ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48941669,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13742		K/*		T	NA	1117/4840		NA		Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,stop_gained,p.Lys327Ter,ENST00000267163,NM_000321.2;RB1,downstream_gene_variant,,ENST00000467505,;							HIGH	979/2787	K327*	RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
ABCA13	0	LGGM	GRCh37	7	48315073	48315073	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	50	56	.	.	ENST00000435803.1:c.5810A>G	p.Asp1937Gly	p.D1937G	ENST00000435803	NM_152701.3	1937	gAt/gGt	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		106	-0.11		HGNC	p.D1937G		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48315073,A,G&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		D/G		G	neutral	5834/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=1801&re=2000&var=D1937G					YES	ABCA13,missense_variant,p.Asp1937Gly,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							MODERATE	5810/15177	D1937G	ABCAD_HUMAN			Transcript		benign(0.001)	.	ENSP00000411096		CCDS47584.1			1	
TPR	0	LGGM	GRCh37	1	186326622	186326622	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080357	H080357N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	23	58	.	.	ENST00000367478.4:c.1631A>C	p.Glu544Ala	p.E544A	ENST00000367478	NM_003292.2	544	gAa/gCa	0	1	1	UPI000046FCF4	0	NA	ENST00000367478		ENSG00000047410	12017		81	1.73		HGNC	p.E544A		TPR		SNV			1				ENST00000367478	protein_coding	getma.org/?cm=var&var=hg19,1,186326622,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898		E/A		G	low	1928/9708		getma.org/?cm=msa&ty=f&p=TPR_HUMAN&rb=362&re=561&var=E544A		Q9UE33_HUMAN			YES	TPR,missense_variant,p.Glu544Ala,ENST00000367478,NM_003292.2;TPR,non_coding_transcript_exon_variant,,ENST00000474852,;TPR,upstream_gene_variant,,ENST00000491783,;TPR,upstream_gene_variant,,ENST00000469463,;							MODERATE	1631/7092	E544A	TPR_HUMAN			Transcript		benign(0.292)	.	ENSP00000356448		CCDS41446.1			1	
TTN	0	LGGM	GRCh37	2	179582819	179582819	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	47	61	.	.	ENST00000589042.1:c.24914G>A	p.Arg8305Gln	p.R8305Q	ENST00000589042	NM_001267550.1	8305	cGa/cAa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=7947&to=8036&var=R7988Q	ENST00000591111		ENSG00000155657	12403	0.00026	108	1.18		HGNC	p.R7061Q	rs759985618	TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179582819,C,T&fts=all		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		R/Q		T	low	24188/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=7947&re=8036&var=R7988Q		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg8305Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg7988Gln,ENST00000591111,;TTN,missense_variant,p.Arg7061Gln,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,;							MODERATE	23963/103053	R7988Q	TITIN_HUMAN			Transcript			.	ENSP00000465570	2.48E-05				1	
DMBT1	0	LGGM	GRCh37	10	124358368	124358368	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	126	62	.	.	ENST00000368909.3:c.3035G>A	p.Gly1012Asp	p.G1012D	ENST00000368909	NM_007329.2	1012	gGc/gAc	0	1		UPI000047021C	0	getma.org/pdb.php?prot=DMBT1_HUMAN&from=996&to=1093&var=G1012D	ENST00000338354		ENSG00000187908	2926		188	2.605		HGNC	p.G1012D		DMBT1		SNV			1				ENST00000339871	protein_coding	getma.org/?cm=var&var=hg19,10,124358368,G,A&fts=all		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		G/D		A	medium	3141/7686		getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=996&re=1093&var=G1012D	tolerated(0.07)	B6V682_HUMAN				DMBT1,missense_variant,p.Gly1012Asp,ENST00000338354,;DMBT1,missense_variant,p.Gly1012Asp,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Gly1002Asp,ENST00000344338,;DMBT1,missense_variant,p.Gly1002Asp,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Gly513Asp,ENST00000330163,;DMBT1,missense_variant,p.Gly513Asp,ENST00000368956,NM_004406.2;DMBT1,intron_variant,,ENST00000359586,;							MODERATE	3035/7242	G1012D	DMBT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342210					1	
ZNF606	0	LGGM	GRCh37	19	58500023	58500023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	66	63	.	.	ENST00000341164.4:c.244G>T	p.Val82Phe	p.V82F	ENST00000341164	NM_025027.3	82	Gtt/Ttt	0	1	1	UPI000013C35B	0	getma.org/pdb.php?prot=ZN606_HUMAN&from=62&to=102&var=V82F	ENST00000341164		ENSG00000166704	25879		129	0.495		HGNC	p.V82F		ZNF606		SNV							ENST00000551380	protein_coding	getma.org/?cm=var&var=hg19,19,58500023,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF278,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		V/F		A	neutral	865/4248		getma.org/?cm=msa&ty=f&p=ZN606_HUMAN&rb=62&re=102&var=V82F	deleterious(0)	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN			YES	ZNF606,missense_variant,p.Val82Phe,ENST00000341164,NM_025027.3;ZNF606,missense_variant,p.Val82Phe,ENST00000551380,;ZNF606,5_prime_UTR_variant,,ENST00000536132,;ZNF606,downstream_gene_variant,,ENST00000552579,;ZNF606,missense_variant,p.Cys52Phe,ENST00000550599,;							MODERATE	244/2379	V82F	ZN606_HUMAN			Transcript		benign(0.42)	.	ENSP00000343617		CCDS12968.1			1	
ETAA1	0	LGGM	GRCh37	2	67637045	67637045	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080357	H080357N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	65	69	.	.	ENST00000272342.5:c.2656G>C	p.Glu886Gln	p.E886Q	ENST00000272342	NM_019002.3	886	Gaa/Caa	0	1	1	UPI00001414BC	0	NA	ENST00000272342		ENSG00000143971	24648		134	1.995		HGNC	p.E886Q		ETAA1		SNV							ENST00000272342	protein_coding	getma.org/?cm=var&var=hg19,2,67637045,G,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16434:SF1,hmmpanther:PTHR16434,Pfam_domain:PF15350		E/Q		C	medium	2786/3418		getma.org/?cm=msa&ty=f&p=ETAA1_HUMAN&rb=411&re=925&var=E886Q	deleterious(0.03)				YES	ETAA1,missense_variant,p.Glu886Gln,ENST00000272342,NM_019002.3;ETAA1,downstream_gene_variant,,ENST00000462772,;							MODERATE	2656/2781	E886Q	ETAA1_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000272342		CCDS1882.1			1	
LRRC72	0	LGGM	GRCh37	7	16621065	16621065	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	74	71	.	.	ENST00000401542.2:c.815A>C	p.Glu272Ala	p.E272A	ENST00000401542	NM_001195280.1	272	gAa/gCa	0	1	1	UPI000173A227	0	NA	ENST00000401542		ENSG00000205858	42972		145	0.55		HGNC	p.E272A		LRRC72		SNV							ENST00000401542	protein_coding	getma.org/?cm=var&var=hg19,7,16621065,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10552:SF11,hmmpanther:PTHR10552		E/A		C	neutral	872/1000		getma.org/?cm=msa&ty=f&p=LRC72_HUMAN&rb=201&re=287&var=E272A	tolerated(0.08)				YES	LRRC72,missense_variant,p.Glu272Ala,ENST00000401542,NM_001195280.1;AC005014.5,downstream_gene_variant,,ENST00000432006,;							MODERATE	815/864	E272A	LRC72_HUMAN			Transcript		benign(0.056)	.	ENSP00000384971		CCDS56464.1			1	
GAPVD1	0	LGGM	GRCh37	9	128070018	128070018	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080357	H080357N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	59	79	.	.	ENST00000394105.2:c.1300A>G	p.Arg434Gly	p.R434G	ENST00000394105	NM_015635.2	434	Aga/Gga	0	1		UPI000165C132	0	NA	ENST00000394104		ENSG00000165219	23375		138	0.345		HGNC	p.R434G		GAPVD1		SNV							ENST00000297933	protein_coding	getma.org/?cm=var&var=hg19,9,128070018,A,G&fts=all		hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Superfamily_domains:SSF48350		R/G		G	neutral	1460/6861		getma.org/?cm=msa&ty=f&p=GAPD1_HUMAN&rb=354&re=553&var=R434G	tolerated(0.08)	C9IZX9_HUMAN,C9IZ08_HUMAN				GAPVD1,missense_variant,p.Arg434Gly,ENST00000470056,;GAPVD1,missense_variant,p.Arg434Gly,ENST00000394104,NM_001282679.1;GAPVD1,missense_variant,p.Arg434Gly,ENST00000265956,;GAPVD1,missense_variant,p.Arg434Gly,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Arg434Gly,ENST00000495955,;GAPVD1,missense_variant,p.Arg434Gly,ENST00000394105,NM_015635.2;GAPVD1,missense_variant,p.Arg434Gly,ENST00000394083,;GAPVD1,missense_variant,p.Arg434Gly,ENST00000312123,NM_001282681.1;GAPVD1,missense_variant,p.Arg434Gly,ENST00000394084,;GAPVD1,missense_variant,p.Arg434Gly,ENST00000467750,;GAPVD1,missense_variant,p.Arg297Gly,ENST00000431329,;GAPVD1,missense_variant,p.Arg265Gly,ENST00000436712,;RNU6-1020P,upstream_gene_variant,,ENST00000363684,;GAPVD1,missense_variant,p.Arg434Gly,ENST00000497580,;							MODERATE	1300/4437	R434G	GAPD1_HUMAN			Transcript		benign(0.145)	.	ENSP00000377664		CCDS65132.1			1	
KIR3DL2	0	LGGM	GRCh37	19	55377995	55377995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	85	84	.	.	ENST00000326321.3:c.1177C>A	p.Pro393Thr	p.P393T	ENST00000326321	NM_006737.3	393	Cct/Act	0	1	1	UPI000012DB25	0	NA	ENST00000326321		ENSG00000240403	6339		169	3.39		HGNC	p.P393T		KIR3DL2		SNV							ENST00000402254	protein_coding	getma.org/?cm=var&var=hg19,19,55377995,C,A&fts=all		hmmpanther:PTHR11738:SF19,hmmpanther:PTHR11738		P/T		A	medium	1210/1877		getma.org/?cm=msa&ty=f&p=KI3L2_HUMAN&rb=297&re=455&var=P393T	tolerated(0.17)	O78200_HUMAN,E4W3V6_HUMAN,A7YL13_HUMAN			YES	KIR3DL2,missense_variant,p.Pro393Thr,ENST00000326321,NM_006737.3;KIR3DL1,missense_variant,p.Pro393Thr,ENST00000402254,;KIR3DL2,missense_variant,p.Pro376Thr,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,;							MODERATE	1177/1368	P393T	KI3L2_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000325525		CCDS12906.1			1	
TUBA3E	0	LGGM	GRCh37	2	130949514	130949514	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H080357	H080357N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080357N.bam, H080357T.bam	Illumina HiSeq	80	97	.	.	ENST00000312988.7:c.1243del	p.Glu415ArgfsTer14	p.E415Rfs*14	ENST00000312988	NM_207312.2	415	Gag/ag	0	1	1	UPI00001BE8EB	0		ENST00000312988		ENSG00000152086	20765		177			HGNC	p.E415fs		TUBA3E		deletion							ENST00000312988	protein_coding			Gene3D:1.10.287.600,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Superfamily_domains:SSF55307		E/X		-		1344/1540				F8VXZ7_HUMAN			YES	TUBA3E,frameshift_variant,p.Glu415ArgfsTer14,ENST00000312988,NM_207312.2;MZT2B,downstream_gene_variant,,ENST00000281871,NM_025029.3;MZT2B,downstream_gene_variant,,ENST00000409255,;MZT2B,downstream_gene_variant,,ENST00000425361,;MZT2B,downstream_gene_variant,,ENST00000457492,;MZT2B,downstream_gene_variant,,ENST00000455239,;MZT2B,downstream_gene_variant,,ENST00000491178,;MZT2B,downstream_gene_variant,,ENST00000480182,;							HIGH	1243/1353		TBA3E_HUMAN			Transcript			.	ENSP00000318197		CCDS2158.1			1	
GAS2L1	0	LGGM	GRCh37	22	29706710	29706710	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	18	2	.	.	ENST00000341313.6:c.824G>C	p.Arg275Pro	p.R275P	ENST00000341313		275	cGc/cCc	0	1	1	UPI0000161439	0	getma.org/pdb.php?prot=GA2L1_HUMAN&from=206&to=278&var=R275P	ENST00000341313		ENSG00000185340	16955		20	3.255		HGNC	p.R275P		GAS2L1		SNV							ENST00000403764	protein_coding	getma.org/?cm=var&var=hg19,22,29706710,G,C&fts=all		Superfamily_domains:0050058,Gene3D:1v5rA00,Pfam_domain:PF02187,PROSITE_profiles:PS51460,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF123,SMART_domains:SM00243		R/P		C	medium	956/2237		getma.org/?cm=msa&ty=f&p=GA2L1_HUMAN&rb=206&re=278&var=R275P	deleterious(0)	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN			YES	GAS2L1,missense_variant,p.Arg275Pro,ENST00000471961,;GAS2L1,missense_variant,p.Arg275Pro,ENST00000407647,;GAS2L1,missense_variant,p.Arg275Pro,ENST00000403764,NM_006478.4;GAS2L1,missense_variant,p.Arg275Pro,ENST00000407854,NM_152236.2;GAS2L1,missense_variant,p.Arg275Pro,ENST00000360113,;GAS2L1,missense_variant,p.Arg275Pro,ENST00000341313,;GAS2L1,missense_variant,p.Arg275Pro,ENST00000406549,NM_001278730.1;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,downstream_gene_variant,,ENST00000416823,;GAS2L1,downstream_gene_variant,,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000608559,;RASL10A,downstream_gene_variant,,ENST00000474590,;GAS2L1,non_coding_transcript_exon_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;							MODERATE	824/1014	R275P	GA2L1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000344012					1	
AMBRA1	0	LGGM	GRCh37	11	46419242	46419242	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	6	2	.	.	ENST00000314845.3:c.3385G>T	p.Gly1129Trp	p.G1129W	ENST00000314845	NM_017749.3	1129	Ggg/Tgg	0	1		UPI0001627788	0	NA	ENST00000458649		ENSG00000110497	25990		8	0.345		HGNC	p.G177W		AMBRA1		SNV							ENST00000526545	protein_coding	getma.org/?cm=var&var=hg19,11,46419242,C,A&fts=all		hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874		G/W		A	neutral	4074/5351		getma.org/?cm=msa&ty=f&p=AMRA1_HUMAN&rb=1034&re=1233&var=G1219W	tolerated_low_confidence(0.06)	E9PL55_HUMAN				AMBRA1,missense_variant,p.Gly1219Trp,ENST00000458649,;AMBRA1,missense_variant,p.Gly1190Trp,ENST00000426438,;AMBRA1,missense_variant,p.Gly1159Trp,ENST00000298834,;AMBRA1,missense_variant,p.Gly1159Trp,ENST00000534300,NM_001267782.1;AMBRA1,missense_variant,p.Gly1129Trp,ENST00000314845,NM_017749.3;AMBRA1,missense_variant,p.Gly1100Trp,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Gly1190Trp,ENST00000528950,;AMBRA1,missense_variant,p.Gly177Trp,ENST00000526545,;							MODERATE	3655/3897	G1219W	AMRA1_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000415327					1	
GARNL3	0	LGGM	GRCh37	9	130097509	130097509	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	37	3	.	.	ENST00000373387.4:c.770A>G	p.Asn257Ser	p.N257S	ENST00000373387	NM_032293.4	257	aAt/aGt	0	1	1	UPI0000EE56F2	0	getma.org/pdb.php?prot=GARL3_HUMAN&from=220&to=407&var=N257S	ENST00000373387		ENSG00000136895	25425		40	0.885		HGNC	p.N235S		GARNL3		SNV							ENST00000435213	protein_coding	getma.org/?cm=var&var=hg19,9,130097509,A,G&fts=all		Superfamily_domains:0043732,Pfam_domain:PF02145,hmmpanther:PTHR15711,PROSITE_profiles:PS50085		N/S		G	low	1122/3800		getma.org/?cm=msa&ty=f&p=GARL3_HUMAN&rb=220&re=407&var=N257S	tolerated(0.28)	B4DH81_HUMAN			YES	GARNL3,missense_variant,p.Asn257Ser,ENST00000373387,NM_032293.4;GARNL3,missense_variant,p.Asn257Ser,ENST00000314904,;GARNL3,missense_variant,p.Asn235Ser,ENST00000435213,NM_001286779.1;GARNL3,downstream_gene_variant,,ENST00000439286,;GARNL3,intron_variant,,ENST00000464616,;GARNL3,missense_variant,p.Asn239Ser,ENST00000373386,;GARNL3,splice_region_variant,,ENST00000495172,;							MODERATE	770/3042	N257S	GARL3_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000362485		CCDS6869.2			1	
PTPRT	0	LGGM	GRCh37	20	41306583	41306583	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	46	3	.	.	ENST00000373198.4:c.1076G>T	p.Arg359Leu	p.R359L	ENST00000373198	NM_133170.3	359	cGa/cTa	0	1	1	UPI0000246C03	0	getma.org/pdb.php?prot=PTPRT_HUMAN&from=290&to=374&var=R359L	ENST00000373187		ENSG00000196090	9682		49	1.175		HGNC	p.R359L		PTPRT		SNV							ENST00000373198	protein_coding	getma.org/?cm=var&var=hg19,20,41306583,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/L		A	low	1076/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=290&re=374&var=R359L	tolerated(0.09)				YES	PTPRT,missense_variant,p.Arg359Leu,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Arg359Leu,ENST00000373201,;PTPRT,missense_variant,p.Arg359Leu,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Arg359Leu,ENST00000373190,;PTPRT,missense_variant,p.Arg359Leu,ENST00000373184,;PTPRT,missense_variant,p.Arg359Leu,ENST00000356100,;PTPRT,missense_variant,p.Arg359Leu,ENST00000373187,;							MODERATE	1076/4326	R359L	PTPRT_HUMAN			Transcript		possibly_damaging(0.577)	.	ENSP00000362283		CCDS42874.1			1	
NCKAP1L	0	LGGM	GRCh37	12	54912725	54912725	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	24	3	.	.	ENST00000293373.6:c.1448C>A	p.Ser483Ter	p.S483*	ENST00000293373	NM_005337.4	483	tCa/tAa	0	1	1	UPI00001C0439	0	NA	ENST00000293373		ENSG00000123338	4862		27	0		HGNC	p.S433X		NCKAP1L		SNV							ENST00000545638	protein_coding	getma.org/?cm=var&var=hg19,12,54912725,C,A&fts=all		hmmpanther:PTHR12093:SF9,hmmpanther:PTHR12093,Pfam_domain:PF09735		S/*		A	NA	1527/4720		NA		Q9BV52_HUMAN,Q5XG97_HUMAN,B2RA26_HUMAN			YES	NCKAP1L,stop_gained,p.Ser483Ter,ENST00000293373,NM_005337.4;NCKAP1L,stop_gained,p.Ser433Ter,ENST00000545638,NM_001184976.1;NCKAP1L,downstream_gene_variant,,ENST00000552211,;NCKAP1L,3_prime_UTR_variant,,ENST00000548221,;NCKAP1L,non_coding_transcript_exon_variant,,ENST00000549451,;							HIGH	1448/3384	S483*	NCKPL_HUMAN			Transcript			.	ENSP00000293373		CCDS31813.1			1	
VANGL2	0	LGGM	GRCh37	1	160389287	160389287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	3	.	.	ENST00000368061.2:c.688C>A	p.His230Asn	p.H230N	ENST00000368061	NM_020335.2	230	Cac/Aac	0	1	1	UPI00001C1D79	0	NA	ENST00000368061		ENSG00000162738	15511		35	2.915		HGNC	p.H230N		VANGL2		SNV			1				ENST00000368061	protein_coding	getma.org/?cm=var&var=hg19,1,160389287,C,A&fts=all		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10,Transmembrane_helices:TMhelix		H/N		A	medium	1162/5340		getma.org/?cm=msa&ty=f&p=VANG2_HUMAN&rb=21&re=521&var=H230N	deleterious(0.01)				YES	VANGL2,missense_variant,p.His230Asn,ENST00000368061,NM_020335.2;VANGL2,non_coding_transcript_exon_variant,,ENST00000483408,;							MODERATE	688/1566	H230N	VANG2_HUMAN			Transcript		benign(0.315)	.	ENSP00000357040		CCDS30915.1			1	
BRCA2	0	LGGM	GRCh37	13	32911113	32911113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	36	3	.	.	ENST00000380152.3:c.2621C>A	p.Thr874Asn	p.T874N	ENST00000380152		874	aCt/aAt	0	1		UPI00001FCBCC	0	NA	ENST00000380152		ENSG00000139618	1101		39	1.445		HGNC	p.T874N		BRCA2		SNV			1				ENST00000544455	protein_coding	getma.org/?cm=var&var=hg19,13,32911113,C,A&fts=all		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397		T/N		A	low	2854/10930		getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=801&re=1000&var=T874N	deleterious(0.01)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN				BRCA2,missense_variant,p.Thr874Asn,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.Thr874Asn,ENST00000380152,;BRCA2,downstream_gene_variant,,ENST00000530893,;							MODERATE	2621/10257	T874N	BRCA2_HUMAN			Transcript		benign(0.373)	.	ENSP00000369497		CCDS9344.1			1	
HELT	0	LGGM	GRCh37	4	185941608	185941608	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	19	3	.	.	ENST00000338875.4:c.666G>T	p.Leu222=	p.L222=	ENST00000338875	NM_001029887.1	222	ctG/ctT	0	1		UPI000189A80D	0		ENST00000515777		ENSG00000187821	33783		22			HGNC	p.L136L		HELT		SNV							ENST00000505610	protein_coding			hmmpanther:PTHR10985:SF8,hmmpanther:PTHR10985		L		T		499/841				B7ZMI7_HUMAN				HELT,synonymous_variant,p.=,ENST00000338875,NM_001029887.1;HELT,synonymous_variant,p.=,ENST00000505610,;HELT,synonymous_variant,p.=,ENST00000515777,;HELT,non_coding_transcript_exon_variant,,ENST00000513599,;							LOW	411/729					Transcript			.	ENSP00000426033					1	
LINC00675	0	LGGM	GRCh37	17	10707101	10707101	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	30	3	.	.	ENST00000581851.1:n.316G>T		*106*	ENST00000581851				0	1	1		0		ENST00000581851		ENSG00000263429	44356		33			HGNC	p.L60L		LINC00675		SNV							ENST00000581851	lincRNA							A		316/1530							YES	LINC00675,non_coding_transcript_exon_variant,,ENST00000581851,;CTC-297N7.5,intron_variant,,ENST00000580899,;							MODIFIER						Transcript			.						1	
FAM153C	0	LGGM	GRCh37	5	177457624	177457624	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	25	3	.	.	ENST00000507848.1:c.-56-4473G>T		*19*	ENST00000507848				0	1	1	UPI000058E068	0		ENST00000507848		ENSG00000204677	33936		28			HGNC	p.V11L		FAM153C		SNV							ENST00000511856	protein_coding							T		-/1071				D6RA46_HUMAN			YES	FAM153C,missense_variant,p.Asp11Tyr,ENST00000511189,;FAM153C,missense_variant,p.Val11Leu,ENST00000511856,;FAM153C,intron_variant,,ENST00000398106,;FAM153C,intron_variant,,ENST00000507848,;FAM153C,intron_variant,,ENST00000504530,;FAM153C,intron_variant,,ENST00000505582,;							MODIFIER	-/435		F153C_HUMAN			Transcript			.	ENSP00000424623					1	
C20orf96	0	LGGM	GRCh37	20	264616	264616	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	33	3	.	.	ENST00000360321.2:c.294C>A	p.Ile98=	p.I98=	ENST00000360321	NM_153269.2	98	atC/atA	0	1	1	UPI00001285F1	0		ENST00000360321		ENSG00000196476	16227		36			HGNC	p.I63I		C20orf96		SNV							ENST00000382369	protein_coding					I		T		433/1575							YES	C20orf96,synonymous_variant,p.=,ENST00000360321,NM_153269.2,NM_080571.1;C20orf96,synonymous_variant,p.=,ENST00000382369,;C20orf96,synonymous_variant,p.=,ENST00000400269,;							LOW	294/1092		CT096_HUMAN			Transcript			.	ENSP00000353470		CCDS12994.1			1	
POTEJ	0	LGGM	GRCh37	2	131377629	131377629	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	38	3	.	.	ENST00000409602.1:c.711A>T	p.Thr237=	p.T237=	ENST00000409602	NM_001277083.1	237	acA/acT	0	1	1	UPI0000DD7A4B	0		ENST00000409602		ENSG00000222038	37094		41			HGNC	p.T237T		POTEJ		SNV							ENST00000409602	protein_coding			Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,SMART_domains:SM00248,Superfamily_domains:SSF48403		T		T		763/3383							YES	POTEJ,synonymous_variant,p.=,ENST00000409602,NM_001277083.1;RNU6-848P,upstream_gene_variant,,ENST00000515948,;							LOW	711/3117		POTEJ_HUMAN			Transcript			.	ENSP00000387176		CCDS59432.1			1	
ANK2	0	LGGM	GRCh37	4	114251439	114251439	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	29	3	.	.	ENST00000357077.4:c.2938G>T	p.Ala980Ser	p.A980S	ENST00000357077	NM_001148.4	980	Gct/Tct	0	1	1	UPI0000441EF3	0	getma.org/pdb.php?prot=ANK2_HUMAN&from=966&to=1070&var=A980S	ENST00000357077		ENSG00000145362	493		32	0.205		HGNC	p.A980S		ANK2		SNV			1				ENST00000394537	protein_coding	getma.org/?cm=var&var=hg19,4,114251439,G,T&fts=all		Pfam_domain:PF00791,PROSITE_profiles:PS51145,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00218		A/S		T	neutral	2991/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=966&re=1070&var=A980S		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Ala980Ser,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ala980Ser,ENST00000264366,;ANK2,missense_variant,p.Ala971Ser,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Ala980Ser,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Ala995Ser,ENST00000504454,;ANK2,missense_variant,p.Ala26Ser,ENST00000514960,;ANK2,missense_variant,p.Ala926Ser,ENST00000503423,;ANK2,missense_variant,p.Ala189Ser,ENST00000509550,;ANK2,missense_variant,p.Ala959Ser,ENST00000503271,;ANK2,non_coding_transcript_exon_variant,,ENST00000515644,;ANK2,upstream_gene_variant,,ENST00000514160,;							MODERATE	2938/11874	A980S	ANK2_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000349588		CCDS3702.1			1	
CD163	0	LGGM	GRCh37	12	7640540	7640540	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	42	3	.	.	ENST00000359156.4:c.1564G>T	p.Gly522Cys	p.G522C	ENST00000359156	NM_004244.5	522	Ggc/Tgc	0	1	1	UPI00004565CC	0	getma.org/pdb.php?prot=C163A_HUMAN&from=481&to=578&var=G522C	ENST00000359156		ENSG00000177575	1631		45	3.91		HGNC	p.G522C		CD163		SNV							ENST00000432237	protein_coding	getma.org/?cm=var&var=hg19,12,7640540,C,A&fts=all		PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487		G/C		A	high	1767/4268		getma.org/?cm=msa&ty=f&p=C163A_HUMAN&rb=481&re=578&var=G522C	deleterious(0)				YES	CD163,missense_variant,p.Gly522Cys,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Gly522Cys,ENST00000396620,;CD163,missense_variant,p.Gly522Cys,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Gly510Cys,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,;							MODERATE	1564/3471	G522C	C163A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352071		CCDS8578.1			1	
LPCAT1	0	LGGM	GRCh37	5	1479744	1479744	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	36	3	.	.	ENST00000283415.3:c.808G>T	p.Glu270Ter	p.E270*	ENST00000283415	NM_024830.3	270	Gaa/Taa	0	1	1	UPI000004771C	0	NA	ENST00000283415		ENSG00000153395	25718		39	0		HGNC	p.E270X		LPCAT1		SNV							ENST00000283415	protein_coding	getma.org/?cm=var&var=hg19,5,1479744,C,A&fts=all		Superfamily_domains:0039877,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF11		E/*		A	NA	941/3966		NA		D3DTC2_HUMAN			YES	LPCAT1,stop_gained,p.Glu270Ter,ENST00000283415,NM_024830.3;LPCAT1,downstream_gene_variant,,ENST00000514484,;LPCAT1,stop_gained,p.Glu270Ter,ENST00000475622,;LPCAT1,non_coding_transcript_exon_variant,,ENST00000513757,;							HIGH	808/1605	E270*	PCAT1_HUMAN			Transcript			.	ENSP00000283415		CCDS3864.1			1	
PDGFRA	0	LGGM	GRCh37	4	55156667	55156667	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	44	3	.	.	ENST00000257290.5:c.3068C>A	p.Pro1023His	p.P1023H	ENST00000257290	NM_006206.4	1023	cCt/cAt	0	1	1	UPI0000131793	0	NA	ENST00000257290		ENSG00000134853	8803		47	2.085		HGNC	p.P783H		PDGFRA		SNV			1				ENST00000507166	protein_coding	getma.org/?cm=var&var=hg19,4,55156667,C,A&fts=all		hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615		P/H		A	medium	3399/6576		getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=955&re=1087&var=P1023H	deleterious(0)	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN			YES	PDGFRA,missense_variant,p.Pro1023His,ENST00000257290,NM_006206.4;FIP1L1,missense_variant,p.Pro783His,ENST00000507166,;							MODERATE	3068/3270	P1023H	PGFRA_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000257290		CCDS3495.1			1	
AKAP9	0	LGGM	GRCh37	7	91726530	91726530	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	3	.	.	ENST00000356239.3:c.10257G>T	p.Leu3419=	p.L3419=	ENST00000356239	NM_147185.2	3419	ctG/ctT	0	1	1	UPI000002A38D	0		ENST00000356239		ENSG00000127914	379		35			HGNC	p.L3419L		AKAP9		SNV			1				ENST00000356239	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10		L		T		10490/12471				Q8IW64_HUMAN			YES	AKAP9,synonymous_variant,p.=,ENST00000359028,;AKAP9,synonymous_variant,p.=,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,synonymous_variant,p.=,ENST00000358100,;AKAP9,synonymous_variant,p.=,ENST00000394534,;AKAP9,non_coding_transcript_exon_variant,,ENST00000487258,;AKAP9,non_coding_transcript_exon_variant,,ENST00000487692,;AKAP9,upstream_gene_variant,,ENST00000463118,;							LOW	10257/11724		AKAP9_HUMAN			Transcript			.	ENSP00000348573		CCDS5622.1			1	
SSX2IP	0	LGGM	GRCh37	1	85124139	85124139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	30	3	.	.	ENST00000342203.3:c.940G>T	p.Val314Phe	p.V314F	ENST00000342203	NM_014021.3	314	Gtt/Ttt	0	1	1	UPI00000728CA	0	NA	ENST00000342203		ENSG00000117155	16509		33	0.69		HGNC	p.V287F		SSX2IP		SNV							ENST00000437941	protein_coding	getma.org/?cm=var&var=hg19,1,85124139,C,A&fts=all		hmmpanther:PTHR21736,hmmpanther:PTHR21736:SF12		V/F		A	neutral	1204/5835		getma.org/?cm=msa&ty=f&p=ADIP_HUMAN&rb=215&re=414&var=V314F	tolerated(0.2)	C9JIX7_HUMAN			YES	SSX2IP,missense_variant,p.Val287Phe,ENST00000437941,NM_001166295.1,NM_001166417.1;SSX2IP,missense_variant,p.Val314Phe,ENST00000342203,NM_014021.3,NM_001166293.1,NM_001166294.1;SSX2IP,missense_variant,p.Val314Phe,ENST00000370612,;SSX2IP,missense_variant,p.Val287Phe,ENST00000605755,;SSX2IP,intron_variant,,ENST00000603677,;SSX2IP,missense_variant,p.Val314Phe,ENST00000481102,;SSX2IP,missense_variant,p.Val310Phe,ENST00000476905,;SSX2IP,non_coding_transcript_exon_variant,,ENST00000460500,;SSX2IP,upstream_gene_variant,,ENST00000459708,;							MODERATE	940/1845	V314F	ADIP_HUMAN			Transcript		benign(0.048)	.	ENSP00000340279		CCDS699.1			1	
NBEAL2	0	LGGM	GRCh37	3	47046739	47046739	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	25	3	.	.	ENST00000450053.3:c.6488C>A	p.Ala2163Glu	p.A2163E	ENST00000450053	NM_015175.2	2163	gCa/gAa	0	1	1	UPI000022C020	0	getma.org/pdb.php?prot=NBEL2_HUMAN&from=2065&to=2345&var=A2163E	ENST00000450053		ENSG00000160796	31928		28	1.93		HGNC	p.A2163E		NBEAL2		SNV			1				ENST00000450053	protein_coding	getma.org/?cm=var&var=hg19,3,47046739,C,A&fts=all		PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF50,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837		A/E		A	medium	6667/8827		getma.org/?cm=msa&ty=f&p=NBEL2_HUMAN&rb=2065&re=2345&var=A2163E	deleterious(0)	B4DVX0_HUMAN,B4DDY6_HUMAN			YES	NBEAL2,missense_variant,p.Ala2163Glu,ENST00000450053,NM_015175.2;NBEAL2,missense_variant,p.Ala442Glu,ENST00000383740,;NBEAL2,missense_variant,p.Ala1979Glu,ENST00000292309,;NBEAL2,missense_variant,p.Ala1451Glu,ENST00000416683,;NBEAL2,missense_variant,p.Ala532Glu,ENST00000443829,;NBEAL2,upstream_gene_variant,,ENST00000423436,;NBEAL2,3_prime_UTR_variant,,ENST00000441027,;NBEAL2,non_coding_transcript_exon_variant,,ENST00000486870,;NBEAL2,upstream_gene_variant,,ENST00000476095,;NBEAL2,upstream_gene_variant,,ENST00000477412,;NBEAL2,upstream_gene_variant,,ENST00000461036,;NBEAL2,downstream_gene_variant,,ENST00000475689,;NBEAL2,upstream_gene_variant,,ENST00000469349,;							MODERATE	6488/8265	A2163E	NBEL2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000415034		CCDS46817.1			1	
CNNM3	0	LGGM	GRCh37	2	97493486	97493486	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	40	3	.	.	ENST00000305510.3:c.1538C>A	p.Pro513Gln	p.P513Q	ENST00000305510	NM_017623.4	513	cCg/cAg	0	1	1	UPI000006CEA7	0	NA	ENST00000305510		ENSG00000168763	104		43	2.24		HGNC	p.P465Q		CNNM3		SNV							ENST00000377060	protein_coding	getma.org/?cm=var&var=hg19,2,97493486,C,A&fts=all		hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF27		P/Q		A	medium	1566/3447		getma.org/?cm=msa&ty=f&p=CNNM3_HUMAN&rb=495&re=694&var=P513Q	deleterious(0.02)				YES	CNNM3,missense_variant,p.Pro513Gln,ENST00000305510,NM_017623.4;CNNM3,missense_variant,p.Pro465Gln,ENST00000377060,NM_199078.2;ANKRD23,intron_variant,,ENST00000476975,;CNNM3,upstream_gene_variant,,ENST00000480035,;CNNM3,non_coding_transcript_exon_variant,,ENST00000465224,;CNNM3,non_coding_transcript_exon_variant,,ENST00000494595,;							MODERATE	1538/2124	P513Q	CNNM3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000305449		CCDS2025.1			1	
RSPO1	0	LGGM	GRCh37	1	38079533	38079533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	30	3	.	.	ENST00000356545.2:c.468G>T	p.Trp156Cys	p.W156C	ENST00000356545	NM_001038633.3	156	tgG/tgT	0	1	1	UPI0000674A16	0	NA	ENST00000356545		ENSG00000169218	21679		33	3.31		HGNC	p.W156C		RSPO1		SNV			1				ENST00000356545	protein_coding	getma.org/?cm=var&var=hg19,1,38079533,C,A&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR23275,hmmpanther:PTHR23275:SF33,SMART_domains:SM00209,Superfamily_domains:SSF82895		W/C		A	medium	1256/2985		getma.org/?cm=msa&ty=f&p=RSPO1_HUMAN&rb=151&re=206&var=W156C	deleterious(0)				YES	RSPO1,missense_variant,p.Trp156Cys,ENST00000356545,NM_001038633.3;RSPO1,missense_variant,p.Trp156Cys,ENST00000401069,NM_001242908.1;RSPO1,missense_variant,p.Trp129Cys,ENST00000373059,NM_001242909.1;RSPO1,missense_variant,p.Trp156Cys,ENST00000401068,;RSPO1,intron_variant,,ENST00000401070,;RSPO1,intron_variant,,ENST00000401071,NM_001242910.1;							MODERATE	468/792	W156C	RSPO1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348944		CCDS41304.1			1	
TRPM2	0	LGGM	GRCh37	21	45860731	45860731	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	3	.	.	ENST00000397928.1:c.4329G>A	p.Val1443=	p.V1443=	ENST00000397928	NM_003307.3	1443	gtG/gtA	0	1		UPI0000169D60	0		ENST00000300482		ENSG00000142185	12339		37			HGNC	p.V1493V		TRPM2		SNV							ENST00000397932	protein_coding			Gene3D:3.90.79.10,PROSITE_profiles:PS51462,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2,Superfamily_domains:SSF55811		V		A		4542/5989				C9JZQ8_HUMAN				TRPM2,synonymous_variant,p.=,ENST00000397928,NM_003307.3;TRPM2,synonymous_variant,p.=,ENST00000300482,;TRPM2,synonymous_variant,p.=,ENST00000300481,;TRPM2,synonymous_variant,p.=,ENST00000397932,;snoZ6,downstream_gene_variant,,ENST00000583496,;snoZ6,downstream_gene_variant,,ENST00000581669,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;TRPM2,non_coding_transcript_exon_variant,,ENST00000490982,;							LOW	4329/4512		TRPM2_HUMAN			Transcript			.	ENSP00000300482		CCDS13710.1			1	
PPRC1	0	LGGM	GRCh37	10	103899180	103899180	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	45	3	.	.	ENST00000278070.2:c.915G>T	p.Leu305=	p.L305=	ENST00000278070	NM_015062.3	305	ctG/ctT	0	1	1	UPI000013DB5C	0		ENST00000278070		ENSG00000148840	30025		48			HGNC	p.L305L		PPRC1		SNV							ENST00000413464	protein_coding			hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF5		L		T		954/5330							YES	PPRC1,synonymous_variant,p.=,ENST00000278070,NM_015062.3,NM_001288728.1;PPRC1,synonymous_variant,p.=,ENST00000413464,NM_001288727.1;PPRC1,upstream_gene_variant,,ENST00000370012,;PPRC1,upstream_gene_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000462933,;							LOW	915/4995		PPRC1_HUMAN			Transcript			.	ENSP00000278070		CCDS7529.1			1	
NOS1AP	0	LGGM	GRCh37	1	162302852	162302852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	46	3	.	.	ENST00000361897.5:c.390C>A	p.Ser130Arg	p.S130R	ENST00000361897	NM_014697.2	130	agC/agA	0	1	1	UPI000019C573	0	getma.org/pdb.php?prot=CAPON_HUMAN&from=32&to=175&var=S130R	ENST00000361897		ENSG00000198929	16859		49	3.455		HGNC	p.S125R		NOS1AP		SNV			1				ENST00000430120	protein_coding	getma.org/?cm=var&var=hg19,1,162302852,C,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39,SMART_domains:SM00462,Superfamily_domains:SSF50729		S/R		A	medium	792/4931		getma.org/?cm=msa&ty=f&p=CAPON_HUMAN&rb=32&re=175&var=S130R	deleterious(0)	H7BY61_HUMAN,E9PIP8_HUMAN			YES	NOS1AP,missense_variant,p.Ser130Arg,ENST00000361897,NM_014697.2,NM_001164757.1;NOS1AP,missense_variant,p.Ser125Arg,ENST00000530878,;NOS1AP,missense_variant,p.Ser125Arg,ENST00000430120,;							MODERATE	390/1521	S130R	CAPON_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355133		CCDS1237.1			1	
CES3	0	LGGM	GRCh37	16	66997752	66997752	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	38	3	.	.	ENST00000303334.4:c.474C>A	p.Thr158=	p.T158=	ENST00000303334	NM_024922.5	158	acC/acA	0	1	1	UPI0000047824	0		ENST00000303334		ENSG00000172828	1865		41			HGNC	p.T158T		CES3		SNV							ENST00000570236	protein_coding			Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF163,Superfamily_domains:SSF53474		T		A		545/3834							YES	CES3,synonymous_variant,p.=,ENST00000303334,NM_024922.5;CES3,synonymous_variant,p.=,ENST00000394037,NM_001185177.1;CES3,upstream_gene_variant,,ENST00000543856,NM_001185176.1;RP11-361L15.4,downstream_gene_variant,,ENST00000566869,;CES3,synonymous_variant,p.=,ENST00000570236,;CES3,3_prime_UTR_variant,,ENST00000566453,;CES3,upstream_gene_variant,,ENST00000564715,;CES3,downstream_gene_variant,,ENST00000566746,;CES3,downstream_gene_variant,,ENST00000568118,;							LOW	474/1716		EST3_HUMAN			Transcript			.	ENSP00000304782		CCDS10826.1			1	
ASB7	0	LGGM	GRCh37	15	101152625	101152625	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	43	3	.	.	ENST00000332783.7:c.204A>G	p.Glu68=	p.E68=	ENST00000332783	NM_198243.2	68	gaA/gaG	0	1	1	UPI00001B3F4D	0		ENST00000332783		ENSG00000183475	17182		46			HGNC	p.E68E		ASB7		SNV							ENST00000558747	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24123:SF13,hmmpanther:PTHR24123,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		E		G		989/4985							YES	ASB7,synonymous_variant,p.=,ENST00000332783,NM_198243.2;ASB7,synonymous_variant,p.=,ENST00000558747,;ASB7,synonymous_variant,p.=,ENST00000343276,NM_024708.3;ASB7,non_coding_transcript_exon_variant,,ENST00000561192,;							LOW	204/957		ASB7_HUMAN			Transcript			.	ENSP00000328327		CCDS10387.1			1	
LYPD6	0	LGGM	GRCh37	2	150294287	150294287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	3	.	.	ENST00000334166.4:c.65C>A	p.Ala22Asp	p.A22D	ENST00000334166	NM_194317.3	22	gCt/gAt	0	1	1	UPI000000DB99	0	NA	ENST00000334166		ENSG00000187123	28751		35	1.61		HGNC	p.A22D		LYPD6		SNV							ENST00000392854	protein_coding	getma.org/?cm=var&var=hg19,2,150294287,C,A&fts=all		hmmpanther:PTHR31171,hmmpanther:PTHR31171:SF0,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		A/D		A	low	322/4071		getma.org/?cm=msa&ty=f&p=LYPD6_HUMAN&rb=1&re=171&var=A22D	deleterious(0.02)	C9IYE7_HUMAN			YES	LYPD6,missense_variant,p.Ala22Asp,ENST00000334166,NM_194317.3;LYPD6,missense_variant,p.Ala22Asp,ENST00000409381,NM_001195685.1;LYPD6,missense_variant,p.Ala22Asp,ENST00000414420,;LYPD6,missense_variant,p.Ala22Asp,ENST00000392854,;LYPD6,missense_variant,p.Ala22Asp,ENST00000418762,;AC007394.3,upstream_gene_variant,,ENST00000421941,;							MODERATE	65/516	A22D	LYPD6_HUMAN			Transcript		possibly_damaging(0.66)	.	ENSP00000334463		CCDS2188.1			1	
FAM199X	0	LGGM	GRCh37	X	103430849	103430849	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	41	3	.	.	ENST00000493442.1:c.520C>A	p.Arg174=	p.R174=	ENST00000493442	NM_207318.3	174	Cgg/Agg	0	1	1	UPI00001C2069	0		ENST00000493442		ENSG00000123575	25195		44			HGNC	p.R174R		FAM199X		SNV							ENST00000493442	protein_coding			hmmpanther:PTHR32003,hmmpanther:PTHR32003:SF1		R		A		686/7457				B0QYU2_HUMAN			YES	FAM199X,synonymous_variant,p.=,ENST00000493442,NM_207318.3;FAM199X,non_coding_transcript_exon_variant,,ENST00000299906,;							LOW	520/1167		F199X_HUMAN			Transcript			.	ENSP00000417581		CCDS35364.1			1	
GGNBP2	0	LGGM	GRCh37	17	34910696	34910696	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	3	.	.	ENST00000304718.4:c.129C>A	p.Leu43=	p.L43=	ENST00000304718	NM_024835.4	43	ctC/ctA	0	1	1	UPI00000728CB	0		ENST00000304718		ENSG00000005955	19357		37			HGNC	p.L43L		GGNBP2		SNV							ENST00000593016	protein_coding			hmmpanther:PTHR13601		L		A		445/2847				K7ELA8_HUMAN,B4DWN7_HUMAN			YES	GGNBP2,synonymous_variant,p.=,ENST00000304718,NM_024835.4;GGNBP2,synonymous_variant,p.=,ENST00000593016,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000486208,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000495023,;							LOW	129/2094		GGNB2_HUMAN			Transcript			.	ENSP00000307617		CCDS11314.1			1	
PPP2R5C	0	LGGM	GRCh37	14	102356609	102356609	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	31	3	.	.	ENST00000422945.2:c.758C>G	p.Ala253Gly	p.A253G	ENST00000422945	NM_001161725.1	253	gCa/gGa	0	1		UPI000019C428	0	getma.org/pdb.php?prot=2A5G_HUMAN&from=27&to=438&var=A222G	ENST00000334743		ENSG00000078304	9311		34	2.14		HGNC	p.A277G		PPP2R5C		SNV							ENST00000328724	protein_coding	getma.org/?cm=var&var=hg19,14,102356609,C,G&fts=all		hmmpanther:PTHR10257,Pfam_domain:PF01603,Gene3D:1.25.10.10,PIRSF_domain:PIRSF028043,Superfamily_domains:SSF48371		A/G		G	medium	713/4328		getma.org/?cm=msa&ty=f&p=2A5G_HUMAN&rb=27&re=438&var=A222G	tolerated(0.11)	Q96B13_HUMAN				PPP2R5C,missense_variant,p.Ala253Gly,ENST00000422945,NM_001161725.1;PPP2R5C,missense_variant,p.Ala222Gly,ENST00000334743,NM_002719.3;PPP2R5C,missense_variant,p.Ala277Gly,ENST00000328724,NM_001161726.1;PPP2R5C,missense_variant,p.Ala222Gly,ENST00000350249,NM_178586.2;PPP2R5C,missense_variant,p.Ala251Gly,ENST00000557268,;PPP2R5C,missense_variant,p.Ala222Gly,ENST00000445439,NM_178587.2;PPP2R5C,missense_variant,p.Ala222Gly,ENST00000557095,;PPP2R5C,missense_variant,p.Ala191Gly,ENST00000557621,;PPP2R5C,missense_variant,p.Ala21Gly,ENST00000557716,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000556218,;PPP2R5C,3_prime_UTR_variant,,ENST00000554137,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000556805,;PPP2R5C,intron_variant,,ENST00000557534,;							MODERATE	665/1575	A222G	2A5G_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000333905		CCDS9964.1			1	
COL3A1	0	LGGM	GRCh37	2	189859017	189859017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	36	3	.	.	ENST00000304636.3:c.1252C>A	p.Pro418Thr	p.P418T	ENST00000304636	NM_000090.3	418	Cca/Aca	0	1	1	UPI0000456EBA	0	NA	ENST00000304636		ENSG00000168542	2201		39	2.195		HGNC	p.P418T		COL3A1		SNV			1				ENST00000304636	protein_coding	getma.org/?cm=var&var=hg19,2,189859017,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415		P/T		A	medium	1422/5543		getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=414&re=473&var=P418T		Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,missense_variant,p.Pro418Thr,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Pro418Thr,ENST00000317840,;COL3A1,missense_variant,p.Pro85Thr,ENST00000450867,;							MODERATE	1252/4401	P418T	CO3A1_HUMAN			Transcript		unknown(0)	.	ENSP00000304408		CCDS2297.1			1	
KCNC4	0	LGGM	GRCh37	1	110765807	110765807	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	20	3	.	.	ENST00000369787.3:c.900C>A	p.Ile300=	p.I300=	ENST00000369787	NM_004978.4	300	atC/atA	0	1	1	UPI000013CAC8	0		ENST00000369787		ENSG00000116396	6236		23			HGNC	p.I300I		KCNC4		SNV							ENST00000438661	protein_coding			Gene3D:1.20.120.350,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF126,Superfamily_domains:SSF81324		I		A		927/3670							YES	KCNC4,synonymous_variant,p.=,ENST00000369787,NM_004978.4;KCNC4,synonymous_variant,p.=,ENST00000413138,;KCNC4,synonymous_variant,p.=,ENST00000438661,NM_001039574.2;KCNC4,intron_variant,,ENST00000412512,;KCNC4,synonymous_variant,p.=,ENST00000469655,;KCNC4,non_coding_transcript_exon_variant,,ENST00000459877,;KCNC4,non_coding_transcript_exon_variant,,ENST00000489935,;							LOW	900/1908		KCNC4_HUMAN			Transcript			.	ENSP00000358802		CCDS821.1			1	
G3BP2	0	LGGM	GRCh37	4	76570884	76570884	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	44	3	.	.	ENST00000359707.4:c.1179G>T	p.Pro393=	p.P393=	ENST00000359707	NM_203505.2	393	ccG/ccT	0	1	1	UPI000013D588	0		ENST00000359707		ENSG00000138757	30291		47			HGNC	p.P360P		G3BP2		SNV							ENST00000357854	protein_coding			PROSITE_profiles:PS50102,hmmpanther:PTHR10693,hmmpanther:PTHR10693:SF10,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		P		A		1965/4883				D6RGJ4_HUMAN,D6REX8_HUMAN,D6RE13_HUMAN,D6RBW8_HUMAN,D6RBR0_HUMAN,D6RBM9_HUMAN,D6RB17_HUMAN,D6RAC7_HUMAN,D6R9X5_HUMAN,D6R9A4_HUMAN			YES	G3BP2,splice_region_variant,p.=,ENST00000359707,NM_203505.2;G3BP2,splice_region_variant,p.=,ENST00000395719,NM_012297.4;G3BP2,splice_region_variant,p.=,ENST00000357854,NM_203504.2;G3BP2,downstream_gene_variant,,ENST00000507133,;							LOW	1179/1449		G3BP2_HUMAN			Transcript			.	ENSP00000352738		CCDS3571.1			1	
GDF10	0	LGGM	GRCh37	10	48428750	48428750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	3	.	.	ENST00000224605.2:c.1136G>T	p.Arg379Met	p.R379M	ENST00000224605	NM_004962.3	379	aGg/aTg	0	1	1	UPI0000126A13	0	getma.org/pdb.php?prot=BMP3B_HUMAN&from=373&to=478&var=R379M	ENST00000224605		ENSG00000107623	4215		35	2.98		HGNC	p.R379M		GDF10		SNV							ENST00000224605	protein_coding	getma.org/?cm=var&var=hg19,10,48428750,C,A&fts=all		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF145,Gene3D:2.10.90.10,Pfam_domain:PF00019,PIRSF_domain:PIRSF037403,SMART_domains:SM00204,Superfamily_domains:SSF57501		R/M		A	medium	1402/2458		getma.org/?cm=msa&ty=f&p=BMP3B_HUMAN&rb=373&re=478&var=R379M	deleterious(0)	Q8N6T2_HUMAN			YES	GDF10,missense_variant,p.Arg379Met,ENST00000224605,NM_004962.3;							MODERATE	1136/1437	R379M	BMP3B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000224605		CCDS7220.1			1	
LRRC41	0	LGGM	GRCh37	1	46751435	46751435	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	3	.	.	ENST00000343304.6:c.1094C>T	p.Ser365Phe	p.S365F	ENST00000343304	NM_006369.4	365	tCc/tTc	0	1	1	UPI0000225CC7	0	NA	ENST00000343304		ENSG00000132128	16917		37	0.345		HGNC	p.S365F		LRRC41		SNV							ENST00000343304	protein_coding	getma.org/?cm=var&var=hg19,1,46751435,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15354:SF1,hmmpanther:PTHR15354		S/F		A	neutral	1380/3190		getma.org/?cm=msa&ty=f&p=LRC41_HUMAN&rb=1&re=587&var=S365F	deleterious(0.05)				YES	LRRC41,missense_variant,p.Ser365Phe,ENST00000343304,NM_006369.4;LRRC41,non_coding_transcript_exon_variant,,ENST00000472710,;LRRC41,non_coding_transcript_exon_variant,,ENST00000498402,;LRRC41,upstream_gene_variant,,ENST00000496156,;							MODERATE	1094/2439	S365F	LRC41_HUMAN			Transcript		possibly_damaging(0.683)	.	ENSP00000343298		CCDS533.1			1	
SMYD3	0	LGGM	GRCh37	1	246027136	246027136	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	39	3	.	.	ENST00000388985.4:c.866C>A	p.Ser289Tyr	p.S289Y	ENST00000388985		289	tCc/tAc	0	1		UPI000007078E	0	getma.org/pdb.php?prot=SMYD3_HUMAN&from=241&to=428&var=S289Y	ENST00000490107		ENSG00000185420	15513		42	0		HGNC	p.S100Y		SMYD3		SNV							ENST00000391836	protein_coding	getma.org/?cm=var&var=hg19,1,246027136,G,T&fts=all		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF146		S/Y		T	neutral	906/1548		getma.org/?cm=msa&ty=f&p=SMYD3_HUMAN&rb=241&re=428&var=S289Y	deleterious(0.01)	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN				SMYD3,missense_variant,p.Ser230Tyr,ENST00000490107,NM_001167740.1;SMYD3,missense_variant,p.Ser230Tyr,ENST00000541742,NM_022743.2;SMYD3,missense_variant,p.Ser289Tyr,ENST00000388985,;SMYD3,missense_variant,p.Ser100Tyr,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,;							MODERATE	689/1110	S289Y	SMYD3_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000419184		CCDS31083.1			1	
LTBP1	0	LGGM	GRCh37	2	33590437	33590437	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	43	3	.	.	ENST00000404816.2:c.4578C>A	p.Cys1526Ter	p.C1526*	ENST00000404816		1526	tgC/tgA	0	1	1	UPI000173A4A4	0	NA	ENST00000404816		ENSG00000049323	6714		46	0		HGNC	p.C1201X		LTBP1		SNV							ENST00000390003	protein_coding	getma.org/?cm=var&var=hg19,2,33590437,C,A&fts=all		PROSITE_profiles:PS51364,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,Gene3D:3.90.290.10,Superfamily_domains:SSF57581		C/*		A	NA	4931/6333		NA		H7C2H7_HUMAN			YES	LTBP1,stop_gained,p.Cys1526Ter,ENST00000404816,;LTBP1,stop_gained,p.Cys1527Ter,ENST00000354476,NM_206943.2;LTBP1,stop_gained,p.Cys1201Ter,ENST00000390003,NM_000627.3;LTBP1,stop_gained,p.Cys1158Ter,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,stop_gained,p.Cys1147Ter,ENST00000404525,NM_001166265.1;LTBP1,stop_gained,p.Cys1200Ter,ENST00000407925,;LTBP1,stop_gained,p.Cys1145Ter,ENST00000402934,;LTBP1,stop_gained,p.Cys424Ter,ENST00000272273,;LTBP1,downstream_gene_variant,,ENST00000422669,;							HIGH	4578/5166	C1526*	LTBP1_HUMAN			Transcript			.	ENSP00000386043		CCDS33177.2			1	
CHSY1	0	LGGM	GRCh37	15	101718460	101718460	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	46	3	.	.	ENST00000254190.3:c.1542C>T	p.Leu514=	p.L514=	ENST00000254190	NM_014918.4	514	ctC/ctT	0	1	1	UPI000000DB6C	0		ENST00000254190		ENSG00000131873	17198		49			HGNC	p.L514L	rs769118221	CHSY1		SNV			1				ENST00000254190	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF16,Pfam_domain:PF05679,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		L		A		2018/4550	1.50E-05						YES	CHSY1,synonymous_variant,p.=,ENST00000254190,NM_014918.4;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;							LOW	1542/2409		CHSS1_HUMAN			Transcript			.	ENSP00000254190	8.24E-06	CCDS10390.1			1	
GABRP	0	LGGM	GRCh37	5	170232743	170232743	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	31	3	.	.	ENST00000518525.1:c.565G>T	p.Glu189Ter	p.E189*	ENST00000518525		189	Gag/Tag	0	1		UPI000003C534	0	NA	ENST00000265294		ENSG00000094755	4089		34	0		HGNC	p.E189X		GABRP		SNV							ENST00000519385	protein_coding	getma.org/?cm=var&var=hg19,5,170232743,G,T&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF470,Pfam_domain:PF02931,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932		E/*		T	NA	763/3310		NA		E5RK74_HUMAN,E5RHU0_HUMAN,E5RHF6_HUMAN,E5RGF7_HUMAN,E5RG98_HUMAN				GABRP,stop_gained,p.Glu189Ter,ENST00000518525,;GABRP,stop_gained,p.Glu189Ter,ENST00000265294,NM_014211.2;GABRP,stop_gained,p.Glu189Ter,ENST00000519385,;GABRP,stop_gained,p.Glu189Ter,ENST00000519598,;GABRP,stop_gained,p.Glu189Ter,ENST00000522868,;							HIGH	565/1323	E189*	GBRP_HUMAN			Transcript			.	ENSP00000265294		CCDS4375.1			1	
B4GALNT1	0	LGGM	GRCh37	12	58020691	58020691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	22	3	.	.	ENST00000341156.4:c.1438G>T	p.Val480Leu	p.V480L	ENST00000341156	NM_001478.4	480	Gtg/Ttg	0	1	1	UPI0000126DD5	0	NA	ENST00000341156		ENSG00000135454	4117		25	1.495		HGNC	p.V480L	rs747864083	B4GALNT1		SNV			1				ENST00000341156	protein_coding	getma.org/?cm=var&var=hg19,12,58020691,C,A&fts=all		hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,Gene3D:3.90.550.10,PIRSF_domain:PIRSF000474,Superfamily_domains:SSF53448		V/L		A	low	2023/3036	1.51E-05	getma.org/?cm=msa&ty=f&p=B4GN1_HUMAN&rb=450&re=533&var=V480L	tolerated(0.06)	F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN			YES	B4GALNT1,missense_variant,p.Val480Leu,ENST00000341156,NM_001478.4;B4GALNT1,missense_variant,p.Val425Leu,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,;							MODERATE	1438/1602	V480L	B4GN1_HUMAN			Transcript		benign(0.001)	.	ENSP00000341562	8.24E-06	CCDS8950.1			1	
KRT80	0	LGGM	GRCh37	12	52579321	52579321	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	27	3	.	.	ENST00000394815.2:c.351C>T	p.Phe117=	p.F117=	ENST00000394815	NM_182507.2	117	ttC/ttT	0	1	1	UPI0000160118	0		ENST00000394815		ENSG00000167767	27056		30			HGNC	p.F117F	COSM3871852,COSM3871854,COSM3871853	KRT80		SNV						1,1,1	ENST00000313234	protein_coding			hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239,Pfam_domain:PF00038,Prints_domain:PR01276		F		A		449/3859							YES	KRT80,synonymous_variant,p.=,ENST00000313234,NM_001081492.1;KRT80,synonymous_variant,p.=,ENST00000394815,NM_182507.2;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;					1,1,1		LOW	351/1359		K2C80_HUMAN			Transcript			.	ENSP00000378292		CCDS8821.2			1	
TUBGCP3	0	LGGM	GRCh37	13	113170761	113170761	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	13	3	.	.	ENST00000261965.3:c.2079C>A	p.Asn693Lys	p.N693K	ENST00000261965	NM_006322.4	693	aaC/aaA	0	1	1	UPI000000DB88	0	getma.org/pdb.php?prot=GCP3_HUMAN&from=253&to=763&var=N693K	ENST00000261965		ENSG00000126216	18598		16	0		HGNC	p.N693K		TUBGCP3		SNV							ENST00000261965	protein_coding	getma.org/?cm=var&var=hg19,13,113170761,G,T&fts=all		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14		N/K		T	neutral	2266/3893		getma.org/?cm=msa&ty=f&p=GCP3_HUMAN&rb=253&re=763&var=N693K	tolerated(1)				YES	TUBGCP3,missense_variant,p.Asn693Lys,ENST00000261965,NM_006322.4;TUBGCP3,missense_variant,p.Asn693Lys,ENST00000375669,NM_001286278.1;							MODERATE	2079/2724	N693K	GCP3_HUMAN			Transcript		benign(0.002)	.	ENSP00000261965		CCDS9525.1			1	
DDX54	0	LGGM	GRCh37	12	113600801	113600801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	3	.	.	ENST00000314045.7:c.2131G>T	p.Ala711Ser	p.A711S	ENST00000314045	NM_001111322.1	711	Gct/Tct	0	1		UPI00003588F0	0	NA	ENST00000306014		ENSG00000123064	20084		37	2.63		HGNC	p.A711S		DDX54		SNV							ENST00000314045	protein_coding	getma.org/?cm=var&var=hg19,12,113600801,C,A&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF71,Low_complexity_(Seg):seg		A/S		A	medium	2159/4377		getma.org/?cm=msa&ty=f&p=DDX54_HUMAN&rb=634&re=713&var=A711S	deleterious(0.04)	F8VRX4_HUMAN				DDX54,missense_variant,p.Ala711Ser,ENST00000314045,NM_001111322.1;DDX54,missense_variant,p.Ala711Ser,ENST00000306014,NM_024072.3;DDX54,missense_variant,p.Ala114Ser,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,;							MODERATE	2131/2646	A711S	DDX54_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000304072		CCDS31907.1			1	
THEMIS2	0	LGGM	GRCh37	1	28209128	28209128	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	3	.	.	ENST00000373921.3:c.1293G>T	p.Val431=	p.V431=	ENST00000373921	NM_001105556.1	431	gtG/gtT	0	1	1	UPI00001A796C	0		ENST00000373921		ENSG00000130775	16839		35			HGNC	p.V302V		THEMIS2		SNV							ENST00000328928	protein_coding			hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF2,Pfam_domain:PF12736		V		T		1297/2687							YES	THEMIS2,synonymous_variant,p.=,ENST00000373921,NM_001105556.1;THEMIS2,synonymous_variant,p.=,ENST00000328928,NM_001286113.1;THEMIS2,synonymous_variant,p.=,ENST00000456990,;THEMIS2,intron_variant,,ENST00000373925,NM_004848.2;THEMIS2,intron_variant,,ENST00000373927,NM_001039477.1;THEMIS2,downstream_gene_variant,,ENST00000442118,;THEMIS2,downstream_gene_variant,,ENST00000427466,;THEMIS2,non_coding_transcript_exon_variant,,ENST00000467258,;THEMIS2,non_coding_transcript_exon_variant,,ENST00000482828,;THEMIS2,upstream_gene_variant,,ENST00000492877,;THEMIS2,downstream_gene_variant,,ENST00000466068,;							LOW	1293/1932		THMS2_HUMAN			Transcript			.	ENSP00000363031		CCDS41290.1			1	
TYSND1	0	LGGM	GRCh37	10	71899797	71899797	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	22	3	.	.	ENST00000287078.6:c.1584G>T	p.Gln528His	p.Q528H	ENST00000287078	NM_173555.3	528	caG/caT	0	1	1	UPI0000160C9B	0	NA	ENST00000287078		ENSG00000156521	28531		25	1.5		HGNC	p.Q528H		TYSND1		SNV							ENST00000287078	protein_coding	getma.org/?cm=var&var=hg19,10,71899797,C,A&fts=all		Gene3D:2.40.10.10,PIRSF_domain:PIRSF037989,hmmpanther:PTHR21004,hmmpanther:PTHR21004:SF0,Superfamily_domains:SSF50494		Q/H		A	low	1584/3644		getma.org/?cm=msa&ty=f&p=TYSD1_HUMAN&rb=497&re=566&var=Q528H	tolerated(0.11)				YES	TYSND1,missense_variant,p.Gln528His,ENST00000287078,NM_173555.3;TYSND1,3_prime_UTR_variant,,ENST00000335494,NM_001040273.2;TYSND1,non_coding_transcript_exon_variant,,ENST00000494143,;TYSND1,non_coding_transcript_exon_variant,,ENST00000479086,;							MODERATE	1584/1701	Q528H	TYSD1_HUMAN			Transcript		benign(0.001)	.	ENSP00000287078		CCDS31213.1			1	
TRIM73	0	LGGM	GRCh37	7	75034317	75034317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	38	3	.	.	ENST00000323819.3:c.691C>A	p.Gln231Lys	p.Q231K	ENST00000323819	NM_198924.3	231	Cag/Aag	0	1	1	UPI0000192111	0	NA	ENST00000323819		ENSG00000178809	18162		41	0.55		HGNC	p.Q231K		TRIM73		SNV							ENST00000447409	protein_coding	getma.org/?cm=var&var=hg19,7,75034317,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF295		Q/K		A	neutral	891/1350		getma.org/?cm=msa&ty=f&p=TRI73_HUMAN&rb=126&re=250&var=Q231K	tolerated(0.6)	C9JQH3_HUMAN			YES	TRIM73,missense_variant,p.Gln100Lys,ENST00000450434,;TRIM73,missense_variant,p.Gln231Lys,ENST00000323819,NM_198924.3;TRIM73,missense_variant,p.Gln231Lys,ENST00000430211,;TRIM73,missense_variant,p.Gln231Lys,ENST00000447409,;TRIM73,missense_variant,p.Gln231Lys,ENST00000437796,;TRIM73,non_coding_transcript_exon_variant,,ENST00000483979,;							MODERATE	691/753	Q231K	TRI73_HUMAN			Transcript		benign(0.002)	.	ENSP00000318615		CCDS34665.1			1	
NR2F1	0	LGGM	GRCh37	5	92923897	92923897	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	45	3	.	.	ENST00000327111.3:c.738C>A	p.Thr246=	p.T246=	ENST00000327111	NM_005654.4	246	acC/acA	0	1	1	UPI0000000C58	0		ENST00000327111		ENSG00000175745	7975		48			HGNC	p.T246T		NR2F1		SNV			1				ENST00000327111	protein_coding			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF46,Gene3D:1.10.565.10,Pfam_domain:PF00104,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398		T		A		2425/3732							YES	NR2F1,synonymous_variant,p.=,ENST00000327111,NM_005654.4;NR2F1-AS1,upstream_gene_variant,,ENST00000513055,;NR2F1,non_coding_transcript_exon_variant,,ENST00000502982,;NR2F1,non_coding_transcript_exon_variant,,ENST00000512697,;NR2F1,upstream_gene_variant,,ENST00000506162,;							LOW	738/1272		COT1_HUMAN			Transcript			.	ENSP00000325819		CCDS4068.1			1	
PEX10	0	LGGM	GRCh37	1	2340292	2340292	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	11	3	.	.	ENST00000288774.3:c.199C>T	p.Gln67Ter	p.Q67*	ENST00000288774	NM_153818.1	67	Cag/Tag	0	1		UPI00001316FB	0	NA	ENST00000447513		ENSG00000157911	8851		14	0		HGNC	p.Q67X		PEX10		SNV			1				ENST00000510434	protein_coding	getma.org/?cm=var&var=hg19,1,2340292,G,A&fts=all		Pfam_domain:PF04757,hmmpanther:PTHR23350		Q/*		A	NA	268/1997		NA		J3QRM4_HUMAN				PEX10,stop_gained,p.Gln67Ter,ENST00000288774,NM_153818.1;PEX10,stop_gained,p.Gln67Ter,ENST00000447513,NM_002617.3;PEX10,stop_gained,p.Gln67Ter,ENST00000507596,;PEX10,5_prime_UTR_variant,,ENST00000508384,;RER1,downstream_gene_variant,,ENST00000605895,NM_007033.4;PEX10,non_coding_transcript_exon_variant,,ENST00000515760,;PEX10,non_coding_transcript_exon_variant,,ENST00000504111,;PEX10,stop_gained,p.Gln67Ter,ENST00000510434,;PEX10,3_prime_UTR_variant,,ENST00000502666,;PEX10,3_prime_UTR_variant,,ENST00000514502,;							HIGH	199/981	Q67*	PEX10_HUMAN			Transcript			.	ENSP00000407922		CCDS44045.1			1	
VPS41	0	LGGM	GRCh37	7	38803120	38803120	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	27	3	.	.	ENST00000310301.4:c.1357G>T	p.Asp453Tyr	p.D453Y	ENST00000310301	NM_014396.3	453	Gat/Tat	0	1	1	UPI000000DAB7	0	NA	ENST00000310301		ENSG00000006715	12713		30	2.275		HGNC	p.D428Y		VPS41		SNV							ENST00000395969	protein_coding	getma.org/?cm=var&var=hg19,7,38803120,C,A&fts=all		hmmpanther:PTHR12616,PIRSF_domain:PIRSF028921		D/Y		A	medium	1412/5903		getma.org/?cm=msa&ty=f&p=VPS41_HUMAN&rb=401&re=570&var=D453Y	deleterious(0)	Q75MS2_HUMAN,C9J2U9_HUMAN			YES	VPS41,missense_variant,p.Asp453Tyr,ENST00000310301,NM_014396.3;VPS41,missense_variant,p.Asp428Tyr,ENST00000395969,NM_080631.3;VPS41,non_coding_transcript_exon_variant,,ENST00000462429,;							MODERATE	1357/2565	D453Y	VPS41_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000309457		CCDS5457.1			1	
MDGA1	0	LGGM	GRCh37	6	37622150	37622150	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	40	3	.	.	ENST00000434837.3:c.882C>A	p.Ser294Arg	p.S294R	ENST00000434837	NM_153487.3	294	agC/agA	0	1	1	UPI0000071D28	0	getma.org/pdb.php?prot=MDGA1_HUMAN&from=239&to=326&var=S294R	ENST00000434837		ENSG00000112139	19267		43	-0.59		HGNC	p.S294R		MDGA1		SNV							ENST00000505425	protein_coding	getma.org/?cm=var&var=hg19,6,37622150,G,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50835		S/R		T	neutral	2061/8898		getma.org/?cm=msa&ty=f&p=MDGA1_HUMAN&rb=239&re=326&var=S294R	tolerated(0.09)	D6RHU8_HUMAN,D6RFG6_HUMAN			YES	MDGA1,missense_variant,p.Ser294Arg,ENST00000297153,;MDGA1,missense_variant,p.Ser294Arg,ENST00000434837,NM_153487.3;MDGA1,missense_variant,p.Ser294Arg,ENST00000505425,;MDGA1,downstream_gene_variant,,ENST00000515437,;MDGA1,downstream_gene_variant,,ENST00000508399,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;							MODERATE	882/2868	S294R	MDGA1_HUMAN			Transcript		benign(0.16)	.	ENSP00000402584		CCDS47417.1			1	
FBXL17	0	LGGM	GRCh37	5	107356680	107356680	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	41	3	.	.	ENST00000542267.1:c.1768G>T	p.Glu590Ter	p.E590*	ENST00000542267	NM_001163315.2	590	Gaa/Taa	0	1	1	UPI00019B21FB	0	NA	ENST00000542267		ENSG00000145743	13615		44	0		HGNC	p.E192X		FBXL17		SNV							ENST00000496714	protein_coding	getma.org/?cm=var&var=hg19,5,107356680,C,A&fts=all		hmmpanther:PTHR23125:SF250,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		E/*		A	NA	2175/5188		NA					YES	FBXL17,stop_gained,p.Glu590Ter,ENST00000542267,NM_001163315.2;FBXL17,stop_gained,p.Glu192Ter,ENST00000359660,;FBXL17,stop_gained,p.Glu192Ter,ENST00000496714,;FBXL17,non_coding_transcript_exon_variant,,ENST00000481160,;							HIGH	1768/2106	E590*	FXL17_HUMAN			Transcript			.	ENSP00000437464		CCDS54886.1			1	
RIOK3	0	LGGM	GRCh37	18	21054917	21054917	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	35	3	.	.	ENST00000339486.3:c.1019A>G	p.Gln340Arg	p.Q340R	ENST00000339486	NM_003831.3	340	cAg/cGg	0	1	1	UPI000013C732	0	getma.org/pdb.php?prot=RIOK3_HUMAN&from=264&to=464&var=Q340R	ENST00000339486		ENSG00000101782	11451		38	-0.105		HGNC	p.Q340R		RIOK3		SNV							ENST00000577501	protein_coding	getma.org/?cm=var&var=hg19,18,21054917,A,G&fts=all		hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF22,Pfam_domain:PF01163,Gene3D:3.30.200.20,PIRSF_domain:PIRSF038146,SMART_domains:SM00090,Superfamily_domains:SSF56112		Q/R		G	neutral	1636/4038		getma.org/?cm=msa&ty=f&p=RIOK3_HUMAN&rb=264&re=464&var=Q340R	tolerated(0.3)	B0YJ89_HUMAN			YES	RIOK3,missense_variant,p.Gln340Arg,ENST00000339486,NM_003831.3;RIOK3,missense_variant,p.Gln324Arg,ENST00000581585,;RIOK3,missense_variant,p.Gln340Arg,ENST00000577501,;RIOK3,upstream_gene_variant,,ENST00000577250,;RIOK3,synonymous_variant,p.=,ENST00000584130,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581339,;RIOK3,upstream_gene_variant,,ENST00000581220,;							MODERATE	1019/1560	Q340R	RIOK3_HUMAN			Transcript		benign(0.029)	.	ENSP00000341874		CCDS11877.1			1	
ZZEF1	0	LGGM	GRCh37	17	3962496	3962496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	29	3	.	.	ENST00000381638.2:c.4972G>T	p.Ala1658Ser	p.A1658S	ENST00000381638	NM_015113.3	1658	Gca/Tca	0	1	1	UPI00004569F7	0	NA	ENST00000381638		ENSG00000074755	29027		32	1.085		HGNC	p.A1658S		ZZEF1		SNV							ENST00000381638	protein_coding	getma.org/?cm=var&var=hg19,17,3962496,C,A&fts=all		hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3		A/S		A	low	5097/11456		getma.org/?cm=msa&ty=f&p=ZZEF1_HUMAN&rb=1233&re=1774&var=A1658S	tolerated(0.11)				YES	ZZEF1,missense_variant,p.Ala1658Ser,ENST00000381638,NM_015113.3;ZZEF1,missense_variant,p.Ala46Ser,ENST00000573183,;RNA5SP434,upstream_gene_variant,,ENST00000516647,;ZZEF1,missense_variant,p.Ala144Ser,ENST00000571436,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000572426,;							MODERATE	4972/8886	A1658S	ZZEF1_HUMAN			Transcript		possibly_damaging(0.45)	.	ENSP00000371051		CCDS11043.1			1	
GRWD1	0	LGGM	GRCh37	19	48949736	48949736	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	39	3	.	.	ENST00000253237.5:c.282G>T	p.Gln94His	p.Q94H	ENST00000253237	NM_031485.3	94	caG/caT	0	1	1	UPI000012BB5B	0	NA	ENST00000253237		ENSG00000105447	21270		42	3.16		HGNC	p.Q94H		GRWD1		SNV							ENST00000253237	protein_coding	getma.org/?cm=var&var=hg19,19,48949736,G,T&fts=all		hmmpanther:PTHR22850,Pfam_domain:PF12265		Q/H		T	medium	515/5571		getma.org/?cm=msa&ty=f&p=GRWD1_HUMAN&rb=42&re=113&var=Q94H	deleterious(0)	M0QX71_HUMAN,A0MNN5_HUMAN			YES	GRWD1,missense_variant,p.Gln94His,ENST00000253237,NM_031485.3;GRWD1,5_prime_UTR_variant,,ENST00000598711,;GRIN2D,downstream_gene_variant,,ENST00000263269,NM_000836.2;GRWD1,non_coding_transcript_exon_variant,,ENST00000599949,;							MODERATE	282/1341	Q94H	GRWD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000253237		CCDS12720.1			1	
PNPLA6	0	LGGM	GRCh37	19	7623920	7623920	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	38	3	.	.	ENST00000414982.3:c.3612C>A	p.Ala1204=	p.A1204=	ENST00000414982	NM_001166111.1	1204	gcC/gcA	0	1	1	UPI0001AE63FF	0		ENST00000414982		ENSG00000032444	16268		41			HGNC	p.A1129A		PNPLA6		SNV			1				ENST00000545201	protein_coding			hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF26,Superfamily_domains:SSF52151		A		A		3807/4522							YES	PNPLA6,synonymous_variant,p.=,ENST00000221249,NM_006702.4;PNPLA6,synonymous_variant,p.=,ENST00000414982,NM_001166111.1;PNPLA6,synonymous_variant,p.=,ENST00000545201,NM_001166112.1;PNPLA6,synonymous_variant,p.=,ENST00000450331,NM_001166113.1;PNPLA6,synonymous_variant,p.=,ENST00000600737,NM_001166114.1;PNPLA6,synonymous_variant,p.=,ENST00000599947,;PNPLA6,upstream_gene_variant,,ENST00000597202,;PNPLA6,downstream_gene_variant,,ENST00000595352,;PNPLA6,downstream_gene_variant,,ENST00000599951,;							LOW	3612/4128		PLPL6_HUMAN			Transcript			.	ENSP00000407509		CCDS54206.1			1	
FBXO39	0	LGGM	GRCh37	17	6690729	6690729	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	45	3	.	.	ENST00000321535.4:c.1311C>A	p.Ile437=	p.I437=	ENST00000321535	NM_153230.2	437	atC/atA	0	1	1	UPI000006D9B1	0		ENST00000321535		ENSG00000177294	28565		48			HGNC	p.I437I		FBXO39		SNV							ENST00000321535	protein_coding			hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF125		I		A		1441/1677							YES	FBXO39,synonymous_variant,p.=,ENST00000321535,NM_153230.2;TEKT1,downstream_gene_variant,,ENST00000571744,;FBXO39,intron_variant,,ENST00000575022,;FBXO39,intron_variant,,ENST00000572251,;							LOW	1311/1329		FBX39_HUMAN			Transcript			.	ENSP00000321386		CCDS11082.1			1	
SEZ6	0	LGGM	GRCh37	17	27296910	27296910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	14	3	.	.	ENST00000317338.12:c.919G>T	p.Asp307Tyr	p.D307Y	ENST00000317338		307	Gac/Tac	0	1	1	UPI0000049D91	0	NA	ENST00000317338		ENSG00000063015	15955		17	1.39		HGNC	p.D307Y		SEZ6		SNV							ENST00000360295	protein_coding	getma.org/?cm=var&var=hg19,17,27296910,C,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF92,Gene3D:2.60.120.290,Superfamily_domains:SSF49854		D/Y		A	low	1348/4471		getma.org/?cm=msa&ty=f&p=SEZ6_HUMAN&rb=201&re=356&var=D307Y	deleterious(0.02)	K7ELJ4_HUMAN			YES	SEZ6,missense_variant,p.Asp307Tyr,ENST00000317338,;SEZ6,missense_variant,p.Asp307Tyr,ENST00000360295,NM_178860.4,NM_001098635.1;SEZ6,missense_variant,p.Asp307Tyr,ENST00000442608,;SEZ6,missense_variant,p.Asp233Tyr,ENST00000540632,;SEZ6,missense_variant,p.Asp307Tyr,ENST00000335960,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,intron_variant,,ENST00000578748,;PIPOX,intron_variant,,ENST00000577182,;PIPOX,intron_variant,,ENST00000580383,;SEZ6,missense_variant,p.Asp140Tyr,ENST00000540419,;							MODERATE	919/2985	D307Y	SEZ6_HUMAN			Transcript		benign(0.396)	.	ENSP00000312942		CCDS45639.1			1	
TTLL8	0	LGGM	GRCh37	22	50488649	50488649	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	43	3	.	.	ENST00000433387.1:c.187C>A	p.His63Asn	p.H63N	ENST00000433387		63	Cac/Aac	0	1	1	UPI0001915500	0	NA	ENST00000433387		ENSG00000138892	34000		46	1.845		HGNC	p.H63N		TTLL8		SNV							ENST00000433387	protein_coding	getma.org/?cm=var&var=hg19,22,50488649,G,T&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF88		H/N		T	low	187/2549		getma.org/?cm=msa&ty=f&p=TTLL8_HUMAN&rb=1&re=200&var=H63N	tolerated(0.11)				YES	TTLL8,missense_variant,p.His63Asn,ENST00000433387,;TTLL8,missense_variant,p.His27Asn,ENST00000266182,;TTLL8,missense_variant,p.His27Asn,ENST00000440475,;TTLL8,upstream_gene_variant,,ENST00000477219,;							MODERATE	187/2549	H63N	TTLL8_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000392252					1	
IKBKB	0	LGGM	GRCh37	8	42166539	42166539	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	3	.	.	ENST00000520810.1:c.688C>A	p.Gln230Lys	p.Q230K	ENST00000520810	NM_001556.2	230	Cag/Aag	0	1	1	UPI0000033729	0	getma.org/pdb.php?prot=IKKB_HUMAN&from=15&to=296&var=Q230K	ENST00000520810		ENSG00000104365	5960		37	0.565		HGNC	p.Q230K		IKBKB		SNV			1				ENST00000520655	protein_coding	getma.org/?cm=var&var=hg19,8,42166539,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969,PROSITE_profiles:PS50011		Q/K		A	neutral	874/3086		getma.org/?cm=msa&ty=f&p=IKKB_HUMAN&rb=15&re=296&var=Q230K	tolerated(0.27)	E5RGW5_HUMAN			YES	IKBKB,missense_variant,p.Gln230Lys,ENST00000520810,NM_001556.2;IKBKB,missense_variant,p.Gln171Lys,ENST00000416505,NM_001242778.1;IKBKB,missense_variant,p.Gln228Lys,ENST00000520835,NM_001190720.2;IKBKB,missense_variant,p.Gln230Lys,ENST00000519735,;IKBKB,intron_variant,,ENST00000379708,;IKBKB,intron_variant,,ENST00000522147,;IKBKB,missense_variant,p.Gln230Lys,ENST00000520655,;IKBKB,missense_variant,p.Gln230Lys,ENST00000523517,;IKBKB,missense_variant,p.Gln230Lys,ENST00000521661,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;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,,ENST00000517388,;IKBKB,downstream_gene_variant,,ENST00000519733,;IKBKB,downstream_gene_variant,,ENST00000517812,;							MODERATE	688/2271	Q230K	IKKB_HUMAN			Transcript		benign(0.174)	.	ENSP00000430684		CCDS6128.1			1	
CTTNBP2	0	LGGM	GRCh37	7	117432537	117432537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	37	3	.	.	ENST00000160373.3:c.713G>T	p.Arg238Leu	p.R238L	ENST00000160373	NM_033427.2	238	cGg/cTg	0	1	1	UPI000006E94A	0	NA	ENST00000160373		ENSG00000077063	15679		40	3.135		HGNC	p.R238L		CTTNBP2		SNV							ENST00000441556	protein_coding	getma.org/?cm=var&var=hg19,7,117432537,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166		R/L		A	medium	805/5970		getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=182&re=381&var=R238L	deleterious(0)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,missense_variant,p.Arg238Leu,ENST00000160373,NM_033427.2;CTTNBP2,upstream_gene_variant,,ENST00000446636,;CTTNBP2,downstream_gene_variant,,ENST00000434890,;CTTNBP2,downstream_gene_variant,,ENST00000454375,;CTTNBP2,downstream_gene_variant,,ENST00000487820,;CTTNBP2,missense_variant,p.Arg238Leu,ENST00000441556,;							MODERATE	713/4992	R238L	CTTB2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000160373		CCDS5774.1			1	
MAGI2	0	LGGM	GRCh37	7	77830478	77830478	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	25	4	.	.	ENST00000354212.4:c.2079+1G>T		p.X693_splice	ENST00000354212	NM_012301.3			0	1	1	UPI00001615D2	0		ENST00000354212		ENSG00000187391	18957		29			HGNC	-		MAGI2		SNV							ENST00000354212	protein_coding							A		-/6861							YES	MAGI2,splice_donor_variant,,ENST00000354212,NM_012301.3;MAGI2,splice_donor_variant,,ENST00000419488,;MAGI2,splice_donor_variant,,ENST00000522391,;MAGI2,upstream_gene_variant,,ENST00000524316,;MAGI2,splice_donor_variant,,ENST00000519748,;MAGI2,splice_donor_variant,,ENST00000520379,;							HIGH	2079/4368		MAGI2_HUMAN			Transcript			.	ENSP00000346151		CCDS5594.1			1	
HSF5	0	LGGM	GRCh37	17	56499792	56499792	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	37	4	.	.	ENST00000323777.3:c.1721-1G>C		p.X574_splice	ENST00000323777	NM_001080439.1			0	1	1	UPI0000161929	0		ENST00000323777		ENSG00000176160	26862		41			HGNC	-		HSF5		SNV							ENST00000323777	protein_coding							G		-/4094							YES	HSF5,splice_acceptor_variant,,ENST00000323777,NM_001080439.1;RNF43,upstream_gene_variant,,ENST00000584437,;RNF43,upstream_gene_variant,,ENST00000577716,NM_017763.4;RNF43,upstream_gene_variant,,ENST00000580014,;							HIGH	1721/1791		HSF5_HUMAN			Transcript			.	ENSP00000313243		CCDS32690.1			1	
PTPRM	0	LGGM	GRCh37	18	8143714	8143714	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	89	4	.	.	ENST00000580170.1:c.2237T>C	p.Val746Ala	p.V746A	ENST00000580170	NM_001105244.1	746	gTc/gCc	0	1		UPI00002019A9	0	NA	ENST00000332175		ENSG00000173482	9675		93	1.155		HGNC	p.V746A		PTPRM		SNV							ENST00000332175	protein_coding	getma.org/?cm=var&var=hg19,18,8143714,T,C&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		V/A		C	low	3274/6095		getma.org/?cm=msa&ty=f&p=PTPRM_HUMAN&rb=576&re=775&var=V746A	tolerated(0.1)	Q49AC9_HUMAN,E7EPS8_HUMAN				PTPRM,missense_variant,p.Val746Ala,ENST00000332175,NM_002845.3;PTPRM,missense_variant,p.Val746Ala,ENST00000580170,NM_001105244.1;PTPRM,missense_variant,p.Val684Ala,ENST00000400053,;PTPRM,missense_variant,p.Val533Ala,ENST00000444013,;PTPRM,missense_variant,p.Val746Ala,ENST00000400060,;PTPRM,missense_variant,p.Val244Ala,ENST00000583289,;PTPRM,missense_variant,p.Val99Ala,ENST00000577468,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;							MODERATE	2237/4359	V746A	PTPRM_HUMAN			Transcript		benign(0.008)	.	ENSP00000331418		CCDS11840.1			1	
CRLS1	0	LGGM	GRCh37	20	6011964	6011964	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	20	4	.	.	ENST00000378863.4:c.608T>G	p.Val203Gly	p.V203G	ENST00000378863	NM_019095.4	203	gTa/gGa	0	1	1	UPI000003B001	0	NA	ENST00000378863		ENSG00000088766	16148		24	1.51		HGNC	p.V203G		CRLS1		SNV							ENST00000378863	protein_coding	getma.org/?cm=var&var=hg19,20,6011964,T,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR14269,Pfam_domain:PF01066		V/G		G	low	765/3958		getma.org/?cm=msa&ty=f&p=CRLS1_HUMAN&rb=106&re=287&var=V203G	deleterious(0.02)				YES	CRLS1,missense_variant,p.Val203Gly,ENST00000378863,NM_019095.4;CRLS1,missense_variant,p.Val104Gly,ENST00000378868,NM_001127458.1;CRLS1,intron_variant,,ENST00000452938,;CRLS1,non_coding_transcript_exon_variant,,ENST00000464921,;CRLS1,non_coding_transcript_exon_variant,,ENST00000478846,;CRLS1,non_coding_transcript_exon_variant,,ENST00000489345,;							MODERATE	608/906	V203G	CRLS1_HUMAN			Transcript		benign(0.044)	.	ENSP00000368140		CCDS13096.1			1	
RAB30	0	LGGM	GRCh37	11	82698628	82698628	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	56	4	.	.	ENST00000533486.1:c.361+1G>T		p.X121_splice	ENST00000533486	NM_014488.3			0	1		UPI000002356C	0		ENST00000260056		ENSG00000137502	9770		60			HGNC	p.G121V		RAB30		SNV							ENST00000532548	protein_coding							A		-/1393				E9PS06_HUMAN,E9PRX0_HUMAN,E9PRF7_HUMAN,E9PQ07_HUMAN,E9PMJ1_HUMAN,E9PJQ5_HUMAN,E9PI18_HUMAN,A8K5R1_HUMAN				RAB30,splice_donor_variant,,ENST00000533486,NM_014488.3,NM_001286060.1,NM_001286059.1,NM_001286061.1;RAB30,splice_donor_variant,,ENST00000260056,;RAB30,splice_donor_variant,,ENST00000527633,;RAB30,splice_donor_variant,,ENST00000531021,;RAB30,splice_donor_variant,,ENST00000533014,;RAB30,splice_donor_variant,,ENST00000534301,;RAB30,missense_variant,p.Gly93Val,ENST00000525117,;RAB30,missense_variant,p.Gly121Val,ENST00000532548,;RAB30,missense_variant,p.Gly75Val,ENST00000524635,;RAB30,splice_region_variant,,ENST00000534141,;RAB30,downstream_gene_variant,,ENST00000534103,;RAB30,downstream_gene_variant,,ENST00000526205,;RAB30,downstream_gene_variant,,ENST00000530224,;RP11-659G9.3,intron_variant,,ENST00000527550,;							HIGH	361/612		RAB30_HUMAN			Transcript			.	ENSP00000260056		CCDS8264.1			1	
ZNF585B	0	LGGM	GRCh37	19	37676439	37676439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	12	4	.	.	ENST00000532828.2:c.2000G>T	p.Cys667Phe	p.C667F	ENST00000532828	NM_152279.3	667	tGt/tTt	0	1	1	UPI00001AF01B	0	getma.org/pdb.php?prot=Z585B_HUMAN&from=648&to=673&var=C667F	ENST00000532828		ENSG00000245680	30948		16	4.04		HGNC	p.C667F		ZNF585B		SNV							ENST00000532828	protein_coding	getma.org/?cm=var&var=hg19,19,37676439,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/F		A	high	2252/6210		getma.org/?cm=msa&ty=f&p=Z585B_HUMAN&rb=628&re=693&var=C667F	deleterious(0)	E9PQH3_HUMAN,B3KRH5_HUMAN			YES	ZNF585B,missense_variant,p.Cys667Phe,ENST00000532828,NM_152279.3;ZNF585B,missense_variant,p.Cys612Phe,ENST00000531805,;ZNF585B,missense_variant,p.Cys255Phe,ENST00000312908,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000591492,;ZNF585B,downstream_gene_variant,,ENST00000586320,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000526705,;							MODERATE	2000/2310	C667F	Z585B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000433773		CCDS12500.1			1	
MFSD6	0	LGGM	GRCh37	2	191364870	191364870	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	29	4	.	.	ENST00000392328.1:c.2302G>A	p.Ala768Thr	p.A768T	ENST00000392328	NM_017694.3	768	Gct/Act	0	1		UPI000022BD91	0	NA	ENST00000281416		ENSG00000151690	24711	8.64E-05	33	0.805		HGNC	p.A768T	rs749919012	MFSD6	6.06E-05	SNV				9.65E-05			ENST00000281416	protein_coding	getma.org/?cm=var&var=hg19,2,191364870,G,A&fts=all		hmmpanther:PTHR16172,hmmpanther:PTHR16172:SF2		A/T		A	low	2437/4608	1.50E-05	getma.org/?cm=msa&ty=f&p=MFSD6_HUMAN&rb=704&re=791&var=A768T	tolerated_low_confidence(0.41)	C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN				MFSD6,missense_variant,p.Ala768Thr,ENST00000392328,NM_017694.3;MFSD6,missense_variant,p.Ala768Thr,ENST00000281416,;MFSD6,missense_variant,p.Ala230Thr,ENST00000535751,;MFSD6,3_prime_UTR_variant,,ENST00000434582,;TMEM194B,downstream_gene_variant,,ENST00000409150,NM_001142645.1;MFSD6,downstream_gene_variant,,ENST00000444317,;MFSD6,missense_variant,p.Ala68Thr,ENST00000412482,;MFSD6,downstream_gene_variant,,ENST00000486123,;							MODERATE	2302/2376	A768T	MFSD6_HUMAN			Transcript		benign(0.001)	.	ENSP00000281416	3.29E-05	CCDS2306.1			1	
MYO10	0	LGGM	GRCh37	5	16783549	16783549	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	71	4	.	.	ENST00000513610.1:c.497G>T	p.Ser166Ile	p.S166I	ENST00000513610	NM_012334.2	166	aGc/aTc	0	1	1	UPI0001597062	0	getma.org/pdb.php?prot=MYO10_HUMAN&from=65&to=727&var=S166I	ENST00000513610		ENSG00000145555	7593		75	3.965		HGNC	p.S133I		MYO10		SNV							ENST00000502436	protein_coding	getma.org/?cm=var&var=hg19,5,16783549,C,A&fts=all		Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		S/I		A	high	952/8038		getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=65&re=727&var=S166I	deleterious(0)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Ser166Ile,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Ser177Ile,ENST00000513882,;MYO10,missense_variant,p.Ser133Ile,ENST00000502436,;							MODERATE	497/6177	S166I	MYO10_HUMAN			Transcript		benign(0.42)	.	ENSP00000421280		CCDS54834.1			1	
CHD7	0	LGGM	GRCh37	8	61732633	61732633	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	95	4	.	.	ENST00000423902.2:c.2681C>T	p.Thr894Ile	p.T894I	ENST00000423902	NM_017780.3	894	aCa/aTa	0	1	1	UPI0000251DA6	0	getma.org/pdb.php?prot=CHD7_HUMAN&from=882&to=935&var=T894I	ENST00000423902		ENSG00000171316	20626		99	2.65		HGNC	p.T894I		CHD7		SNV			1				ENST00000307121	protein_coding	getma.org/?cm=var&var=hg19,8,61732633,C,T&fts=all		Gene3D:2.40.50.40,Pfam_domain:PF00385,PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,SMART_domains:SM00298,Superfamily_domains:SSF54160		T/I		T	medium	3160/10446		getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=882&re=935&var=T894I		H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,missense_variant,p.Thr894Ile,ENST00000423902,NM_017780.3;CHD7,missense_variant,p.Thr894Ile,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,;							MODERATE	2681/8994	T894I	CHD7_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000392028		CCDS47865.1			1	
NR1I3	0	LGGM	GRCh37	1	161200938	161200938	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	19	4	.	.	ENST00000367980.2:c.792G>C	p.Val264=	p.V264=	ENST00000367980	NM_001077481.2	264	gtG/gtC	0	1		UPI000035CC50	0		ENST00000367982		ENSG00000143257	7969		23			HGNC	p.V260V		NR1I3		SNV							ENST00000367983	protein_coding			Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR00398,Prints_domain:PR00546,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF231,SMART_domains:SM00430,Superfamily_domains:SSF48508		V		G		948/1322								NR1I3,synonymous_variant,p.=,ENST00000367983,;NR1I3,synonymous_variant,p.=,ENST00000506209,;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.=,ENST00000515621,;NR1I3,synonymous_variant,p.=,ENST00000428574,;NR1I3,synonymous_variant,p.=,ENST00000442691,;NR1I3,synonymous_variant,p.=,ENST00000367981,NM_001077472.2;NR1I3,synonymous_variant,p.=,ENST00000367979,;NR1I3,synonymous_variant,p.=,ENST00000511676,NM_001077479.2;NR1I3,synonymous_variant,p.=,ENST00000412844,NM_001077473.2;NR1I3,synonymous_variant,p.=,ENST00000508740,NM_001077476.2;NR1I3,synonymous_variant,p.=,ENST00000437437,NM_001077477.2;NR1I3,intron_variant,,ENST00000367985,;NR1I3,intron_variant,,ENST00000367984,NM_001077471.2;NR1I3,intron_variant,,ENST00000505005,NM_001077474.2;NR1I3,intron_variant,,ENST00000504010,NM_001077470.2;NR1I3,intron_variant,,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,downstream_gene_variant,,ENST00000515452,;MIR5187,downstream_gene_variant,,ENST00000583479,;NR1I3,non_coding_transcript_exon_variant,,ENST00000479324,;NR1I3,non_coding_transcript_exon_variant,,ENST00000464422,;NR1I3,intron_variant,,ENST00000488651,;TOMM40L,downstream_gene_variant,,ENST00000474486,;TOMM40L,downstream_gene_variant,,ENST00000492482,;TOMM40L,downstream_gene_variant,,ENST00000470426,;TOMM40L,downstream_gene_variant,,ENST00000465512,;NR1I3,downstream_gene_variant,,ENST00000503547,;TOMM40L,downstream_gene_variant,,ENST00000475793,;TOMM40L,downstream_gene_variant,,ENST00000468803,;NR1I3,synonymous_variant,p.=,ENST00000506018,;NR1I3,3_prime_UTR_variant,,ENST00000512340,;NR1I3,non_coding_transcript_exon_variant,,ENST00000505944,;NR1I3,intron_variant,,ENST00000502848,;NR1I3,intron_variant,,ENST00000510951,;NR1I3,intron_variant,,ENST00000507215,;NR1I3,downstream_gene_variant,,ENST00000491193,;							LOW	792/1059		NR1I3_HUMAN			Transcript			.	ENSP00000356961		CCDS41430.1			1	
MPHOSPH9	0	LGGM	GRCh37	12	123637102	123637102	+	downstream_gene_variant	3'Flank	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	18	4	.	.				ENST00000392425				0	1		UPI00001FB90F	0		ENST00000606320		ENSG00000051825	7215		22		1660	HGNC	p.Y200C		MPHOSPH9		SNV							ENST00000541603	protein_coding							C		-/6351				U3KQ28_HUMAN,F5H1W2_HUMAN,F5GZJ0_HUMAN				MPHOSPH9,missense_variant,p.Tyr1022Cys,ENST00000302349,;MPHOSPH9,missense_variant,p.Tyr209Cys,ENST00000541603,;MPHOSPH9,downstream_gene_variant,,ENST00000606320,NM_022782.3;MPHOSPH9,downstream_gene_variant,,ENST00000541076,;MPHOSPH9,downstream_gene_variant,,ENST00000392425,;PITPNM2,upstream_gene_variant,,ENST00000542210,;MPHOSPH9,non_coding_transcript_exon_variant,,ENST00000544217,;MPHOSPH9,downstream_gene_variant,,ENST00000545556,;MPHOSPH9,downstream_gene_variant,,ENST00000302373,;MPHOSPH9,downstream_gene_variant,,ENST00000545974,;MPHOSPH9,downstream_gene_variant,,ENST00000606704,;							MODIFIER	-/3552					Transcript			.	ENSP00000475489		CCDS9243.2			1	
MYLK	0	LGGM	GRCh37	3	123452953	123452953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	14	4	.	.	ENST00000360304.3:c.890G>T	p.Cys297Phe	p.C297F	ENST00000360304	NM_053025.3	297	tGc/tTc	0	1	1	UPI000020A0AE	0	NA	ENST00000360304		ENSG00000065534	7590		18	0.895		HGNC	p.C297F		MYLK		SNV			1				ENST00000475616	protein_coding	getma.org/?cm=var&var=hg19,3,123452953,C,A&fts=all		hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44		C/F		A	low	1172/7834		getma.org/?cm=msa&ty=f&p=MYLK_HUMAN&rb=251&re=413&var=C297F	tolerated(0.68)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN			YES	MYLK,missense_variant,p.Cys297Phe,ENST00000360772,;MYLK,missense_variant,p.Cys297Phe,ENST00000360304,NM_053025.3;MYLK,missense_variant,p.Cys297Phe,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,missense_variant,p.Cys297Phe,ENST00000346322,NM_053026.3;MYLK,missense_variant,p.Cys297Phe,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000514623,;MYLK,downstream_gene_variant,,ENST00000506361,;MYLK,downstream_gene_variant,,ENST00000510571,;							MODERATE	890/5745	C297F	MYLK_HUMAN			Transcript		benign(0.039)	.	ENSP00000353452		CCDS46896.1			1	
BRINP1	0	LGGM	GRCh37	9	122004335	122004335	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	65	4	.	.	ENST00000265922.3:c.569G>T	p.Gly190Val	p.G190V	ENST00000265922	NM_014618.2	190	gGa/gTa	0	1	1	UPI000013D6A7	0	NA	ENST00000265922		ENSG00000078725	2687		69	0.895		HGNC	p.G190V		BRINP1		SNV							ENST00000373969	protein_coding	getma.org/?cm=var&var=hg19,9,122004335,C,A&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7,SMART_domains:SM00457		G/V		A	low	1031/3202		getma.org/?cm=msa&ty=f&p=DBC1_HUMAN&rb=46&re=200&var=G190V	deleterious(0.03)	B4DE75_HUMAN			YES	BRINP1,missense_variant,p.Gly190Val,ENST00000265922,NM_014618.2;BRINP1,missense_variant,p.Gly190Val,ENST00000373964,;							MODERATE	569/2286	G190V	BRNP1_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000265922		CCDS6822.1			1	
NID1	0	LGGM	GRCh37	1	236208781	236208781	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	69	4	.	.	ENST00000264187.6:c.728G>T	p.Arg243Met	p.R243M	ENST00000264187	NM_002508.2	243	aGg/aTg	0	1	1	UPI000013D4D9	0	NA	ENST00000264187		ENSG00000116962	7821		73	1.5		HGNC	p.R243M		NID1		SNV							ENST00000264187	protein_coding	getma.org/?cm=var&var=hg19,1,236208781,C,A&fts=all		PROSITE_profiles:PS51220,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,Pfam_domain:PF06119,SMART_domains:SM00539		R/M		A	low	811/5864		getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=176&re=268&var=R243M	deleterious(0)				YES	NID1,missense_variant,p.Arg243Met,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Arg243Met,ENST00000366595,;							MODERATE	728/3744	R243M	NID1_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000264187		CCDS1608.1			1	
PKHD1	0	LGGM	GRCh37	6	51889936	51889936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	37	4	.	.	ENST00000371117.3:c.4672G>T	p.Gly1558Trp	p.G1558W	ENST00000371117	NM_138694.3	1558	Ggg/Tgg	0	1	1	UPI000013C4C0	0	NA	ENST00000371117		ENSG00000170927	9016		41	2.175		HGNC	p.G1558W		PKHD1		SNV			1				ENST00000340994	protein_coding	getma.org/?cm=var&var=hg19,6,51889936,C,A&fts=all		Gene3D:2.60.40.10		G/W		A	medium	4948/16282		getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1486&re=1568&var=G1558W	deleterious(0)				YES	PKHD1,missense_variant,p.Gly1558Trp,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Gly1558Trp,ENST00000340994,NM_170724.2;							MODERATE	4672/12225	G1558W	PKHD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360158		CCDS4935.1			1	
ITPR2	0	LGGM	GRCh37	12	26551887	26551887	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	27	4	.	.	ENST00000381340.3:c.7618A>G	p.Ile2540Val	p.I2540V	ENST00000381340	NM_002223.2	2540	Atc/Gtc	0	1	1	UPI00001FB7D2	0	NA	ENST00000381340		ENSG00000123104	6181		31	3.475		HGNC	p.I2540V		ITPR2		SNV							ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26551887,T,C&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13715,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I/V		C	medium	8035/10511		getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=2262&re=2540&var=I2540V	deleterious(0)	I1VE21_HUMAN			YES	ITPR2,missense_variant,p.Ile2540Val,ENST00000381340,NM_002223.2;RP11-513G19.1,intron_variant,,ENST00000535324,;ITPR2,3_prime_UTR_variant,,ENST00000451599,;							MODERATE	7618/8106	I2540V	ITPR2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000370744		CCDS41764.1			1	
YWHAE	0	LGGM	GRCh37	17	1268281	1268281	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	80	4	.	.	ENST00000264335.8:c.136T>G	p.Ser46Ala	p.S46A	ENST00000264335	NM_006761.4	46	Tct/Gct	0	1	1	UPI0000021A46	0	getma.org/pdb.php?prot=1433E_HUMAN&from=4&to=239&var=S46A	ENST00000264335		ENSG00000108953	12851		84	3.65		HGNC	p.S24A		YWHAE		SNV			1				ENST00000571732	protein_coding	getma.org/?cm=var&var=hg19,17,1268281,A,C&fts=all		Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,Prints_domain:PR00305,PROSITE_patterns:PS00796,hmmpanther:PTHR18860,SMART_domains:SM00101,Superfamily_domains:SSF48445		S/A		C	high	404/2211		getma.org/?cm=msa&ty=f&p=1433E_HUMAN&rb=4&re=239&var=S46A	deleterious_low_confidence(0.01)	B7ZA86_HUMAN			YES	YWHAE,missense_variant,p.Ser46Ala,ENST00000264335,NM_006761.4;YWHAE,missense_variant,p.Ser24Ala,ENST00000571732,;YWHAE,missense_variant,p.Ser46Ala,ENST00000575977,;YWHAE,intron_variant,,ENST00000573026,;YWHAE,upstream_gene_variant,,ENST00000496706,;YWHAE,missense_variant,p.Ser25Ala,ENST00000466227,;YWHAE,missense_variant,p.Ser46Ala,ENST00000573196,;YWHAE,non_coding_transcript_exon_variant,,ENST00000486241,;YWHAE,non_coding_transcript_exon_variant,,ENST00000469398,;YWHAE,non_coding_transcript_exon_variant,,ENST00000489287,;							MODERATE	136/768	S46A	1433E_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000264335		CCDS11001.1			1	
EVPL	0	LGGM	GRCh37	17	74004414	74004414	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	4	5	.	.	ENST00000301607.3:c.4872G>A	p.Thr1624=	p.T1624=	ENST00000301607	NM_001988.2	1624	acG/acA	0	1	1	UPI000013E730	0		ENST00000301607		ENSG00000167880	3503		9			HGNC	p.T1646T		EVPL		SNV							ENST00000586740	protein_coding			hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7		T		T		5126/6614				K7EQ87_HUMAN			YES	EVPL,synonymous_variant,p.=,ENST00000301607,NM_001988.2;EVPL,synonymous_variant,p.=,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,;							LOW	4872/6102		EVPL_HUMAN			Transcript			.	ENSP00000301607		CCDS11737.1			1	
RANBP10	0	LGGM	GRCh37	16	67768884	67768884	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	6	5	.	.	ENST00000317506.3:c.653G>C	p.Gly218Ala	p.G218A	ENST00000317506	NM_020850.1	218	gGg/gCg	0	1	1	UPI00001C1FA6	0	getma.org/pdb.php?prot=RBP10_HUMAN&from=100&to=221&var=G218A	ENST00000317506		ENSG00000141084	29285		11	4.175		HGNC	p.G101A		RANBP10		SNV							ENST00000411657	protein_coding	getma.org/?cm=var&var=hg19,16,67768884,C,G&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR12864,PROSITE_profiles:PS50188,hmmpanther:PTHR12864:SF17		G/A		G	high	769/5305		getma.org/?cm=msa&ty=f&p=RBP10_HUMAN&rb=100&re=221&var=G218A	deleterious(0)	B3KP49_HUMAN			YES	RANBP10,missense_variant,p.Gly218Ala,ENST00000317506,NM_020850.1;RANBP10,missense_variant,p.Gly218Ala,ENST00000602677,;RANBP10,missense_variant,p.Gly101Ala,ENST00000411657,;RANBP10,missense_variant,p.Gly162Ala,ENST00000448631,;RANBP10,missense_variant,p.Gly86Ala,ENST00000425512,;RANBP10,5_prime_UTR_variant,,ENST00000536251,;RP11-167P11.2,downstream_gene_variant,,ENST00000602844,;RANBP10,downstream_gene_variant,,ENST00000602887,;RANBP10,3_prime_UTR_variant,,ENST00000602506,;RANBP10,3_prime_UTR_variant,,ENST00000602638,;RANBP10,3_prime_UTR_variant,,ENST00000602815,;RANBP10,non_coding_transcript_exon_variant,,ENST00000602525,;							MODERATE	653/1863	G218A	RBP10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000316589		CCDS32469.1			1	
ZBTB16	0	LGGM	GRCh37	11	114121139	114121139	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	26	5	.	.	ENST00000335953.4:c.1884G>A	p.Ser628=	p.S628=	ENST00000335953	NM_006006.4	628	tcG/tcA	0	1	1	UPI000000018E	0		ENST00000335953		ENSG00000109906	12930		31			HGNC	p.S628S	rs775950446	ZBTB16		SNV			1				ENST00000335953	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF425,hmmpanther:PTHR11389,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		S		A		2264/2523	3.00E-05			Q71UL7_HUMAN,Q71UL6_HUMAN,Q71UL5_HUMAN,F5H6C3_HUMAN,F5H5Y7_HUMAN			YES	ZBTB16,synonymous_variant,p.=,ENST00000335953,NM_006006.4;ZBTB16,synonymous_variant,p.=,ENST00000392996,NM_001018011.1;RP11-64D24.2,intron_variant,,ENST00000544925,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000535379,;ZBTB16,downstream_gene_variant,,ENST00000545851,;ZBTB16,non_coding_transcript_exon_variant,,ENST00000535509,;ZBTB16,downstream_gene_variant,,ENST00000539918,;							LOW	1884/2022		ZBT16_HUMAN			Transcript			.	ENSP00000338157	1.65E-05	CCDS8367.1			1	
CCDC132	0	LGGM	GRCh37	7	92938231	92938231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	53	5	.	.	ENST00000305866.5:c.1725G>T	p.Gln575His	p.Q575H	ENST00000305866	NM_017667.3	575	caG/caT	0	1	1	UPI000015F998	0	NA	ENST00000305866		ENSG00000004766	25956		58	1.39		HGNC	p.Q386H		CCDC132		SNV							ENST00000541136	protein_coding	getma.org/?cm=var&var=hg19,7,92938231,G,T&fts=all		hmmpanther:PTHR13258		Q/H		T	low	1853/3613		getma.org/?cm=msa&ty=f&p=CC132_HUMAN&rb=546&re=722&var=Q575H	tolerated(0.12)	A7MD03_HUMAN			YES	CCDC132,missense_variant,p.Gln545His,ENST00000544910,NM_001257998.1;CCDC132,missense_variant,p.Gln575His,ENST00000305866,NM_017667.3;CCDC132,missense_variant,p.Gln386His,ENST00000541136,;CCDC132,missense_variant,p.Gln295His,ENST00000535481,;CCDC132,missense_variant,p.Gln306His,ENST00000317751,;CCDC132,missense_variant,p.Gln362His,ENST00000458707,;CCDC132,downstream_gene_variant,,ENST00000477572,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;							MODERATE	1725/2895	Q575H	CC132_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000307666		CCDS43617.1			1	
ZSWIM4	0	LGGM	GRCh37	19	13910651	13910651	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	20	5	.	.	ENST00000254323.2:c.271G>T	p.Glu91Ter	p.E91*	ENST00000254323	NM_023072.2	91	Gag/Tag	0	1	1	UPI00001C2005	0	NA	ENST00000254323		ENSG00000132003	25704		25	0		HGNC	p.E91X		ZSWIM4		SNV							ENST00000254323	protein_coding	getma.org/?cm=var&var=hg19,19,13910651,G,T&fts=all		hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF4		E/*		T	NA	460/4339		NA		Q9HA55_HUMAN			YES	ZSWIM4,stop_gained,p.Glu91Ter,ENST00000254323,NM_023072.2;CTD-3252C9.2,upstream_gene_variant,,ENST00000591242,;							HIGH	271/2970	E91*	ZSWM4_HUMAN			Transcript			.	ENSP00000254323		CCDS32924.1			1	
ZFAND5	0	LGGM	GRCh37	9	74974439	74974439	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	33	6	.	.	ENST00000237937.3:c.264-2A>G		p.X88_splice	ENST00000237937	NM_006007.3			0	1	1	UPI000013C322	0		ENST00000237937		ENSG00000107372	13008		39			HGNC	-		ZFAND5		SNV							ENST00000237937	protein_coding							C		-/5728							YES	ZFAND5,splice_acceptor_variant,,ENST00000237937,NM_006007.3,NM_001102421.2,NM_001278244.1;ZFAND5,splice_acceptor_variant,,ENST00000376962,NM_001102420.2;ZFAND5,splice_acceptor_variant,,ENST00000376960,;ZFAND5,splice_acceptor_variant,,ENST00000343431,NM_001278245.1,NM_001278243.1;ZFAND5,splice_acceptor_variant,,ENST00000376956,;ZFAND5,splice_acceptor_variant,,ENST00000488164,;ZFAND5,splice_acceptor_variant,,ENST00000471197,;ZFAND5,downstream_gene_variant,,ENST00000487330,;							HIGH	264/642		ZFAN5_HUMAN			Transcript			.	ENSP00000237937		CCDS6642.1			1	
KIF21B	0	LGGM	GRCh37	1	200959853	200959853	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	25	6	.	.	ENST00000422435.2:c.2688-2A>T		p.X896_splice	ENST00000422435	NM_001252100.1			0	1	1	UPI0000153E7C	0		ENST00000422435		ENSG00000116852	29442		31			HGNC	-		KIF21B		SNV							ENST00000332129	protein_coding							A		-/5519							YES	KIF21B,splice_acceptor_variant,,ENST00000332129,NM_001252103.1,NM_001252102.1,NM_017596.3;KIF21B,splice_acceptor_variant,,ENST00000422435,NM_001252100.1;KIF21B,splice_acceptor_variant,,ENST00000461742,;KIF21B,splice_acceptor_variant,,ENST00000360529,;							HIGH	2688/4914		KI21B_HUMAN			Transcript			.	ENSP00000411831		CCDS58056.1			1	
ZNF236	0	LGGM	GRCh37	18	74639987	74639987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	24	6	.	.	ENST00000253159.8:c.4513G>T	p.Val1505Phe	p.V1505F	ENST00000253159	NM_007345.3	1505	Gtc/Ttc	0	1	1	UPI0000F6DCCB	0	NA	ENST00000253159		ENSG00000130856	13028		30	0.895		HGNC	p.V1507F		ZNF236		SNV							ENST00000320610	protein_coding	getma.org/?cm=var&var=hg19,18,74639987,G,T&fts=all		hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15		V/F		T	low	4711/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=1379&re=1616&var=V1505F	deleterious_low_confidence(0)				YES	ZNF236,missense_variant,p.Val1505Phe,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Val1507Phe,ENST00000320610,;ZNF236,missense_variant,p.Val1505Phe,ENST00000543926,;							MODERATE	4513/5538	V1505F	ZN236_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000253159		CCDS42447.1			1	
THBS2	0	LGGM	GRCh37	6	169629728	169629728	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	60	6	.	.	ENST00000366787.3:c.2198A>G	p.Lys733Arg	p.K733R	ENST00000366787	NM_003247.2	733	aAg/aGg	0	1	1	UPI0000231C7F	0	getma.org/pdb.php?prot=TSP2_HUMAN&from=729&to=764&var=K733R	ENST00000366787		ENSG00000186340	11786		66	1.275		HGNC	p.K733R		THBS2		SNV			1				ENST00000366787	protein_coding	getma.org/?cm=var&var=hg19,6,169629728,T,C&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51234,hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,Gene3D:1ux6A01,Pfam_domain:PF02412,Superfamily_domains:0044556		K/R		C	low	2448/5811		getma.org/?cm=msa&ty=f&p=TSP2_HUMAN&rb=729&re=764&var=K733R	tolerated(0.31)	Q6MZL6_HUMAN,Q5RI53_HUMAN			YES	THBS2,missense_variant,p.Lys733Arg,ENST00000366787,NM_003247.2;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,downstream_gene_variant,,ENST00000461848,;							MODERATE	2198/3519	K733R	TSP2_HUMAN			Transcript		benign(0.026)	.	ENSP00000355751		CCDS34574.1			1	
PCDH17	0	LGGM	GRCh37	13	58207664	58207664	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	37	6	.	.	ENST00000377918.3:c.984T>G	p.Pro328=	p.P328=	ENST00000377918	NM_001040429.2	328	ccT/ccG	0	1	1	UPI00001FCE5B	0		ENST00000377918		ENSG00000118946	14267		43			HGNC	p.P328P		PCDH17		SNV							ENST00000484979	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313		P		G		1010/7523							YES	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,synonymous_variant,p.=,ENST00000484979,;							LOW	984/3480		PCD17_HUMAN			Transcript			.	ENSP00000367151		CCDS31986.1			1	
BRINP1	0	LGGM	GRCh37	9	122075514	122075514	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	6	.	.	ENST00000265922.3:c.120G>A	p.Trp40Ter	p.W40*	ENST00000265922	NM_014618.2	40	tgG/tgA	0	1	1	UPI000013D6A7	0	NA	ENST00000265922		ENSG00000078725	2687		38	0		HGNC	p.W40X		BRINP1		SNV							ENST00000373969	protein_coding	getma.org/?cm=var&var=hg19,9,122075514,C,T&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7		W/*		T	NA	582/3202		NA		B4DE75_HUMAN			YES	BRINP1,stop_gained,p.Trp40Ter,ENST00000265922,NM_014618.2;BRINP1,stop_gained,p.Trp40Ter,ENST00000373964,;							HIGH	120/2286	W40*	BRNP1_HUMAN			Transcript			.	ENSP00000265922		CCDS6822.1			1	
PDYN	0	LGGM	GRCh37	20	1963729	1963729	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	15	6	.	.	ENST00000217305.2:c.2T>C	p.Met1?	p.M1?	ENST00000217305	NM_024411.4	1	aTg/aCg	0	1	1	UPI000012FE6A	0	NA	ENST00000217305		ENSG00000101327	8820		21	0		HGNC	p.M1T		PDYN		SNV			1				ENST00000539905	protein_coding	getma.org/?cm=var&var=hg19,20,1963729,A,G&fts=all		hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4,Cleavage_site_(Signalp):SignalP-noTM		M/T		G	NA	228/2555		http://getma.org/?cm=msa&ty=f&p=PDYN_HUMAN&rb=1&re=50&var=M1T	deleterious(0)	Q2YEM6_HUMAN,Q2YEL0_HUMAN,B4DIB7_HUMAN			YES	PDYN,start_lost,p.Met1?,ENST00000217305,NM_024411.4,NM_001190898.2,NM_001190892.1;PDYN,start_lost,p.Met1?,ENST00000539905,NM_001190899.2;PDYN,start_lost,p.Met1?,ENST00000540134,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;							HIGH	2/765	M1T	PDYN_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000217305		CCDS13023.1			1	
PCMTD1	0	LGGM	GRCh37	8	52733200	52733200	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	102	6	.	.	ENST00000360540.5:c.785A>T	p.Glu262Val	p.E262V	ENST00000360540	NM_052937.3	262	gAg/gTg	0	1	1	UPI0000047CC0	0	NA	ENST00000360540		ENSG00000168300	30483		108	1.455		HGNC	p.E186V	COSM3413053	PCMTD1		SNV						1	ENST00000544451	protein_coding	getma.org/?cm=var&var=hg19,8,52733200,T,A&fts=all		hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335		E/V		A	low	1192/4252		getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=225&re=357&var=E262V	deleterious(0.01)				YES	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,;					1		MODERATE	785/1074	E262V	PCMD1_HUMAN			Transcript		benign(0.072)	.	ENSP00000353739		CCDS6148.1			1	
SLC22A17	0	LGGM	GRCh37	14	23816920	23816920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	18	6	.	.	ENST00000397267.1:c.965G>A	p.Arg322His	p.R322H	ENST00000397267		322	cGc/cAc	0	1		UPI0000126A49	0	NA	ENST00000206544		ENSG00000092096	23095	8.64E-05	24	0.47		HGNC	p.R322H	rs775898371	SLC22A17		SNV							ENST00000397267	protein_coding	getma.org/?cm=var&var=hg19,14,23816920,C,T&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF00083,hmmpanther:PTHR24064:SF216,hmmpanther:PTHR24064,PROSITE_profiles:PS50850		R/H		T	neutral	1302/2284	1.50E-05	getma.org/?cm=msa&ty=f&p=S22AH_HUMAN&rb=89&re=507&var=R322H	tolerated(0.17)					SLC22A17,missense_variant,p.Arg322His,ENST00000354772,NM_016609.3;SLC22A17,missense_variant,p.Arg322His,ENST00000397267,;SLC22A17,missense_variant,p.Arg322His,ENST00000206544,NM_020372.2;SLC22A17,missense_variant,p.Arg211His,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000557699,;SLC22A17,downstream_gene_variant,,ENST00000556803,;	0.000116						MODERATE	965/1617	R322H	S22AH_HUMAN			Transcript		benign(0.003)	.	ENSP00000206544	2.47E-05	CCDS9593.1			1	
MZB1	0	LGGM	GRCh37	5	138723538	138723538	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	38	6	.	.	ENST00000302125.8:c.486C>T	p.Gly162=	p.G162=	ENST00000302125	NM_016459.3	162	ggC/ggT	0	1	1	UPI0000035F67	0		ENST00000302125		ENSG00000170476	30125		44			HGNC	p.G162G		MZB1		SNV							ENST00000302125	protein_coding			Pfam_domain:PF11938,hmmpanther:PTHR15881,hmmpanther:PTHR15881:SF1		G		A		544/825				B3KQ72_HUMAN			YES	MZB1,synonymous_variant,p.=,ENST00000302125,NM_016459.3;MZB1,synonymous_variant,p.=,ENST00000412103,;PROB1,downstream_gene_variant,,ENST00000434752,NM_001161546.1;SLC23A1,upstream_gene_variant,,ENST00000353963,NM_152685.3;SLC23A1,upstream_gene_variant,,ENST00000348729,NM_005847.4;SLC23A1,upstream_gene_variant,,ENST00000508270,;MZB1,downstream_gene_variant,,ENST00000457570,;SLC23A1,upstream_gene_variant,,ENST00000503919,;MZB1,3_prime_UTR_variant,,ENST00000503481,;MZB1,3_prime_UTR_variant,,ENST00000417694,;MZB1,3_prime_UTR_variant,,ENST00000513389,;MZB1,3_prime_UTR_variant,,ENST00000503351,;MZB1,non_coding_transcript_exon_variant,,ENST00000503120,;MZB1,non_coding_transcript_exon_variant,,ENST00000511979,;MZB1,downstream_gene_variant,,ENST00000509591,;							LOW	486/570		MZB1_HUMAN			Transcript			.	ENSP00000303920		CCDS47273.1			1	
CDH23	0	LGGM	GRCh37	10	73552945	73552945	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	29	6	.	.				ENST00000398788	NM_001171933.1			0	1		UPI0002B831D5	0	getma.org/pdb.php?prot=CAD23_HUMAN&from=2074&to=2165&var=S2087L	ENST00000224721		ENSG00000107736	13733		35	0.42		HGNC	p.S2090L		CDH23		SNV			1				ENST00000224721	protein_coding	getma.org/?cm=var&var=hg19,10,73552945,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313		S/L		T	neutral	6280/10085		getma.org/?cm=msa&ty=f&p=CAD23_HUMAN&rb=2074&re=2165&var=S2087L	tolerated(0.26)					CDH23,missense_variant,p.Ser2092Leu,ENST00000224721,NM_022124.5;CDH23,upstream_gene_variant,,ENST00000398788,NM_001171933.1,NM_001171934.1;CDH23,upstream_gene_variant,,ENST00000475158,;							MODERATE	6275/10080	S2087L				Transcript		benign(0.024)	.	ENSP00000224721					1	
CYP24A1	0	LGGM	GRCh37	20	52781103	52781103	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	28	7	.	.	ENST00000216862.3:c.733-1G>C		p.X245_splice	ENST00000216862	NM_000782.4			0	1	1	UPI00001281B8	0		ENST00000216862		ENSG00000019186	2602		35			HGNC	-		CYP24A1		SNV			1				ENST00000216862	protein_coding							G		-/3262							YES	CYP24A1,splice_acceptor_variant,,ENST00000216862,NM_000782.4;CYP24A1,splice_acceptor_variant,,ENST00000395955,NM_001128915.1;CYP24A1,splice_acceptor_variant,,ENST00000395954,;CYP24A1,upstream_gene_variant,,ENST00000487593,;							HIGH	733/1545		CP24A_HUMAN			Transcript			.	ENSP00000216862		CCDS33491.1			1	
GZMA	0	LGGM	GRCh37	5	54405873	54405873	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	48	7	.	.	ENST00000274306.6:c.652T>C	p.Cys218Arg	p.C218R	ENST00000274306	NM_006144.3	218	Tgc/Cgc	0	1	1	UPI000013D9FC	0	getma.org/pdb.php?prot=GRAA_HUMAN&from=29&to=254&var=C218R	ENST00000274306		ENSG00000145649	4708		55	2.895		HGNC	p.C218R	rs757758838	GZMA		SNV							ENST00000274306	protein_coding	getma.org/?cm=var&var=hg19,5,54405873,T,C&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24272,hmmpanther:PTHR24272:SF48,SMART_domains:SM00020,Superfamily_domains:SSF50494		C/R		C	medium	687/894	1.51E-05	getma.org/?cm=msa&ty=f&p=GRAA_HUMAN&rb=29&re=254&var=C218R	deleterious(0)				YES	GZMA,missense_variant,p.Cys218Arg,ENST00000274306,NM_006144.3;CDC20B,downstream_gene_variant,,ENST00000334206,;CDC20B,downstream_gene_variant,,ENST00000296733,NM_001170402.1,NM_152623.2;CDC20B,downstream_gene_variant,,ENST00000381375,;CDC20B,downstream_gene_variant,,ENST00000322374,NM_001145734.2;							MODERATE	652/789	C218R	GRAA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274306	8.24E-06	CCDS3965.1			1	
DCAF4	0	LGGM	GRCh37	14	73425474	73425474	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	27	7	.	.	ENST00000358377.2:c.1449G>C	p.Met483Ile	p.M483I	ENST00000358377	NM_001163509.1	483	atG/atC	0	1	1	UPI000000CBDC	0	NA	ENST00000358377		ENSG00000119599	20229		34	1.265		HGNC	p.M483I		DCAF4		SNV							ENST00000358377	protein_coding	getma.org/?cm=var&var=hg19,14,73425474,G,C&fts=all				M/I		C	low	1669/2024		getma.org/?cm=msa&ty=f&p=DCAF4_HUMAN&rb=399&re=495&var=M483I	deleterious(0.01)				YES	DCAF4,missense_variant,p.Met477Ile,ENST00000555042,NM_001163508.1;DCAF4,missense_variant,p.Met383Ile,ENST00000394234,NM_181340.2;DCAF4,missense_variant,p.Met483Ile,ENST00000358377,NM_001163509.1,NM_015604.3;DCAF4,missense_variant,p.Met313Ile,ENST00000353777,;DCAF4,missense_variant,p.Met423Ile,ENST00000509153,NM_181341.2;DCAF4,downstream_gene_variant,,ENST00000553457,;DCAF4,non_coding_transcript_exon_variant,,ENST00000555992,;DCAF4,3_prime_UTR_variant,,ENST00000509320,;RP11-109N23.1,downstream_gene_variant,,ENST00000478589,;RP11-109N23.6,upstream_gene_variant,,ENST00000555304,;							MODERATE	1449/1488	M483I	DCAF4_HUMAN			Transcript		benign(0.096)	.	ENSP00000351147		CCDS9809.1			1	
UMPS	0	LGGM	GRCh37	3	124462765	124462765	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	51	7	.	.	ENST00000232607.2:c.1277A>G	p.Asp426Gly	p.D426G	ENST00000232607	NM_000373.3	426	gAt/gGt	0	1	1	UPI0000001223	0	getma.org/pdb.php?prot=UMPS_HUMAN&from=401&to=480&var=D426G	ENST00000232607		ENSG00000114491	12563		58	1.985		HGNC	p.D334G		UMPS		SNV			1				ENST00000536109	protein_coding	getma.org/?cm=var&var=hg19,3,124462765,A,G&fts=all		TIGRFAM_domain:TIGR01740,Gene3D:3.20.20.70,Pfam_domain:PF00215,SMART_domains:SM00934,Superfamily_domains:SSF51366		D/G		G	medium	1383/2658		getma.org/?cm=msa&ty=f&p=UMPS_HUMAN&rb=401&re=480&var=D426G	deleterious(0)	B5LY64_HUMAN,A8K5J1_HUMAN			YES	UMPS,missense_variant,p.Asp426Gly,ENST00000232607,NM_000373.3;UMPS,missense_variant,p.Asp334Gly,ENST00000536109,;UMPS,missense_variant,p.Asp248Gly,ENST00000538242,;UMPS,missense_variant,p.Asp151Gly,ENST00000413078,;RP11-71H17.9,upstream_gene_variant,,ENST00000608154,;UMPS,non_coding_transcript_exon_variant,,ENST00000495751,;UMPS,3_prime_UTR_variant,,ENST00000479719,;UMPS,3_prime_UTR_variant,,ENST00000467167,;UMPS,3_prime_UTR_variant,,ENST00000460034,;UMPS,3_prime_UTR_variant,,ENST00000462091,;UMPS,3_prime_UTR_variant,,ENST00000474588,;UMPS,3_prime_UTR_variant,,ENST00000497791,;UMPS,downstream_gene_variant,,ENST00000487622,;							MODERATE	1277/1443	D426G	UMPS_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000232607		CCDS3029.1			1	
STAM2	0	LGGM	GRCh37	2	152980409	152980409	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	24	7	.	.	ENST00000263904.4:c.1220A>T	p.Gln407Leu	p.Q407L	ENST00000263904	NM_005843.4	407	cAg/cTg	0	1	1	UPI0000071984	0	NA	ENST00000263904		ENSG00000115145	11358		31	1.87		HGNC	p.Q407L		STAM2		SNV							ENST00000263904	protein_coding	getma.org/?cm=var&var=hg19,2,152980409,T,A&fts=all		hmmpanther:PTHR13856:SF25,hmmpanther:PTHR13856		Q/L		A	low	1570/5701		getma.org/?cm=msa&ty=f&p=STAM2_HUMAN&rb=254&re=453&var=Q407L	tolerated(0.47)				YES	STAM2,missense_variant,p.Gln407Leu,ENST00000263904,NM_005843.4;STAM2,non_coding_transcript_exon_variant,,ENST00000489389,;STAM2,downstream_gene_variant,,ENST00000482997,;							MODERATE	1220/1578	Q407L	STAM2_HUMAN			Transcript		benign(0.002)	.	ENSP00000263904		CCDS2196.1			1	
SIK3	0	LGGM	GRCh37	11	116730273	116730273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	31	8	.	.	ENST00000292055.4:c.2155A>G	p.Ile719Val	p.I719V	ENST00000292055	NM_025164.3	719	Atc/Gtc	0	1	1	UPI00001FA400	0	NA	ENST00000292055		ENSG00000160584	29165		39	0.895		HGNC	p.I777V	rs576915132	SIK3		SNV				9.61E-05			ENST00000375300	protein_coding	getma.org/?cm=var&var=hg19,11,116730273,T,C&fts=all	C:0	hmmpanther:PTHR22971		I/V		C	low	2191/6067		getma.org/?cm=msa&ty=f&p=SIK3_HUMAN&rb=548&re=1261&var=I719V	tolerated_low_confidence(0.23)		C:0	C:0.001	YES	SIK3,missense_variant,p.Ile819Val,ENST00000445177,;SIK3,missense_variant,p.Ile777Val,ENST00000375300,;SIK3,missense_variant,p.Ile719Val,ENST00000292055,NM_025164.3;SIK3,missense_variant,p.Ile114Val,ENST00000375288,;SIK3,missense_variant,p.Ile777Val,ENST00000446921,NM_001281749.1;SIK3,missense_variant,p.Ile618Val,ENST00000434315,NM_001281748.1;SIK3,missense_variant,p.Ile719Val,ENST00000542607,;APOA1-AS,downstream_gene_variant,,ENST00000444200,;SIK3,non_coding_transcript_exon_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;	0.000231	C:0.0002					MODERATE	2155/3792	I719V	SIK3_HUMAN		C:0	Transcript		benign(0.001)	.	ENSP00000292055	2.47E-05	CCDS8379.1		C:0	1	
SEMA3D	0	LGGM	GRCh37	7	84629096	84629096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	8	.	.	ENST00000284136.6:c.1994G>A	p.Cys665Tyr	p.C665Y	ENST00000284136	NM_152754.2	665	tGc/tAc	0	1	1	UPI0000135A66	0	getma.org/pdb.php?prot=SEM3D_HUMAN&from=595&to=683&var=C665Y	ENST00000284136		ENSG00000153993	10726		42	2.79		HGNC	p.C665Y		SEMA3D		SNV			1				ENST00000284136	protein_coding	getma.org/?cm=var&var=hg19,7,84629096,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/Y		T	medium	2038/6265		getma.org/?cm=msa&ty=f&p=SEM3D_HUMAN&rb=595&re=683&var=C665Y	deleterious(0)				YES	SEMA3D,missense_variant,p.Cys665Tyr,ENST00000284136,NM_152754.2;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;							MODERATE	1994/2334	C665Y	SEM3D_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000284136		CCDS34676.1			1	
CAPRIN1	0	LGGM	GRCh37	11	34104388	34104388	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	21	9	.	.	ENST00000341394.4:c.843A>C	p.Glu281Asp	p.E281D	ENST00000341394	NM_005898.4	281	gaA/gaC	0	1	1	UPI0000251DB5	0	NA	ENST00000341394		ENSG00000135387	6743		30	2.015		HGNC	p.E281D		CAPRIN1		SNV							ENST00000530820	protein_coding	getma.org/?cm=var&var=hg19,11,34104388,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3		E/D		C	medium	1032/4108		getma.org/?cm=msa&ty=f&p=CAPR1_HUMAN&rb=201&re=366&var=E281D	tolerated(0.1)	G3V153_HUMAN,E9PLA9_HUMAN			YES	CAPRIN1,missense_variant,p.Glu281Asp,ENST00000341394,NM_005898.4;CAPRIN1,missense_variant,p.Glu281Asp,ENST00000389645,NM_203364.2;CAPRIN1,missense_variant,p.Glu281Asp,ENST00000530820,;CAPRIN1,missense_variant,p.Glu281Asp,ENST00000532820,;CAPRIN1,missense_variant,p.Glu200Asp,ENST00000529307,;CAPRIN1,intron_variant,,ENST00000528856,;							MODERATE	843/2130	E281D	CAPR1_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000340329		CCDS31453.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266110	41266110	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	30	9	.	.	ENST00000349496.5:c.107A>C	p.His36Pro	p.H36P	ENST00000349496	NM_001904.3	36	cAt/cCt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=H36P	ENST00000349496		ENSG00000168036	2514		39	1.965		HGNC	p.H36P	COSM5678	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266110,A,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		H/P		C	medium	387/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=H36P	deleterious(0.04)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.His36Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.His36Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.His36Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.His29Pro,ENST00000453024,;CTNNB1,missense_variant,p.His36Pro,ENST00000405570,;CTNNB1,missense_variant,p.His36Pro,ENST00000450969,;CTNNB1,missense_variant,p.His36Pro,ENST00000431914,;CTNNB1,missense_variant,p.His36Pro,ENST00000441708,;CTNNB1,missense_variant,p.His29Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	107/2346	H36P	CTNB1_HUMAN			Transcript		benign(0.397)	.	ENSP00000344456		CCDS2694.1			1	
ZFYVE20	0	LGGM	GRCh37	3	15118595	15118595	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	19	9	.	.	ENST00000253699.3:c.1075A>G	p.Arg359Gly	p.R359G	ENST00000253699	NM_022340.2	359	Aga/Gga	0	1	1	UPI0000051CE0	0	NA	ENST00000253699		ENSG00000131381	20759		28	2.375		HGNC	p.R359G		ZFYVE20		SNV							ENST00000476527	protein_coding	getma.org/?cm=var&var=hg19,3,15118595,T,C&fts=all		hmmpanther:PTHR13510:SF18,hmmpanther:PTHR13510		R/G		C	medium	1689/6678		getma.org/?cm=msa&ty=f&p=RBNS5_HUMAN&rb=262&re=380&var=R359G	deleterious(0)	D6RD50_HUMAN			YES	ZFYVE20,missense_variant,p.Arg359Gly,ENST00000253699,NM_022340.2;ZFYVE20,missense_variant,p.Arg359Gly,ENST00000476527,;ZFYVE20,downstream_gene_variant,,ENST00000435849,;ZFYVE20,downstream_gene_variant,,ENST00000449964,;ZFYVE20,downstream_gene_variant,,ENST00000483098,;ZFYVE20,missense_variant,p.Arg104Gly,ENST00000426541,;							MODERATE	1075/2355	R359G	RBNS5_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000253699		CCDS2623.1			1	
MUC4	0	LGGM	GRCh37	3	195508279	195508279	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	207	9	.	.	ENST00000463781.3:c.10172C>G	p.Thr3391Ser	p.T3391S	ENST00000463781	NM_018406.6	3391	aCc/aGc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		216	0.55		HGNC	p.T3391S		MUC4		SNV							ENST00000480843	protein_coding	getma.org/?cm=var&var=hg19,3,195508279,G,C&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T/S		C	neutral	10632/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=T3391S		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Thr3391Ser,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr3391Ser,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr3391Ser,ENST00000478156,;MUC4,missense_variant,p.Thr3391Ser,ENST00000466475,;MUC4,missense_variant,p.Thr3391Ser,ENST00000477756,;MUC4,missense_variant,p.Thr3391Ser,ENST00000477086,;MUC4,missense_variant,p.Thr3391Ser,ENST00000480843,;MUC4,missense_variant,p.Thr3391Ser,ENST00000462323,;MUC4,missense_variant,p.Thr3391Ser,ENST00000470451,;MUC4,missense_variant,p.Thr3391Ser,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							MODERATE	10172/16239	T3391S				Transcript		benign(0.301)	.	ENSP00000417498		CCDS54700.1			1	
KIF17	0	LGGM	GRCh37	1	21009266	21009266	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	54	9	.	.	ENST00000247986.2:c.2343G>A	p.Leu781=	p.L781=	ENST00000247986		781	ctG/ctA	0	1	1	UPI0000185F1A	0		ENST00000247986		ENSG00000117245	19167		63			HGNC	p.L781L		KIF17		SNV							ENST00000400463	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF415		L		T		2654/3969							YES	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,non_coding_transcript_exon_variant,,ENST00000477167,;KIF17,non_coding_transcript_exon_variant,,ENST00000462858,;KIF17,non_coding_transcript_exon_variant,,ENST00000498225,;							LOW	2343/3090		KIF17_HUMAN			Transcript			.	ENSP00000247986		CCDS213.1			1	
TPBG	0	LGGM	GRCh37	6	83074947	83074947	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	17	9	.	.	ENST00000369750.3:c.269C>A	p.Pro90His	p.P90H	ENST00000369750		90	cCc/cAc	0	1	1	UPI000004CAD5	0	NA	ENST00000369750		ENSG00000146242	12004		26	3.45		HGNC	p.P90H		TPBG		SNV							ENST00000543496	protein_coding	getma.org/?cm=var&var=hg19,6,83074947,C,A&fts=all		hmmpanther:PTHR24364,Gene3D:3.80.10.10,Pfam_domain:PF01462,SMART_domains:SM00013,SMART_domains:SM00369,Superfamily_domains:SSF52058		P/H		A	medium	886/6484		getma.org/?cm=msa&ty=f&p=TPBG_HUMAN&rb=61&re=90&var=P90H	deleterious(0)	A8K555_HUMAN			YES	TPBG,missense_variant,p.Pro90His,ENST00000369750,;TPBG,missense_variant,p.Pro90His,ENST00000535040,NM_006670.4;TPBG,missense_variant,p.Pro90His,ENST00000543496,NM_001166392.1;							MODERATE	269/1263	P90H	TPBG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358765		CCDS4995.1			1	
SNCAIP	0	LGGM	GRCh37	5	121780366	121780366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	9	.	.	ENST00000261368.8:c.1531G>A	p.Val511Met	p.V511M	ENST00000261368	NM_005460.2	511	Gtg/Atg	0	1	1	UPI000006D872	0	NA	ENST00000261368		ENSG00000064692	11139		43	0.235		HGNC	p.V451M		SNCAIP		SNV			1				ENST00000379536	protein_coding	getma.org/?cm=var&var=hg19,5,121780366,G,A&fts=all		Gene3D:1.25.40.20,hmmpanther:PTHR22882		V/M		A	neutral	1793/3745		getma.org/?cm=msa&ty=f&p=SNCAP_HUMAN&rb=424&re=515&var=V511M	deleterious(0.02)	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN			YES	SNCAIP,missense_variant,p.Val558Met,ENST00000261367,;SNCAIP,missense_variant,p.Val558Met,ENST00000379533,;SNCAIP,missense_variant,p.Val511Met,ENST00000261368,NM_005460.2;SNCAIP,missense_variant,p.Val451Met,ENST00000379536,;SNCAIP,missense_variant,p.Val451Met,ENST00000509154,;SNCAIP,missense_variant,p.Val145Met,ENST00000379538,NM_001242935.1;SNCAIP,missense_variant,p.Val69Met,ENST00000542191,;SNCAIP,missense_variant,p.Val113Met,ENST00000414317,;SNCAIP,3_prime_UTR_variant,,ENST00000503116,;SNCAIP,3_prime_UTR_variant,,ENST00000504884,;CTC-210G5.1,non_coding_transcript_exon_variant,,ENST00000505546,;CTC-210G5.1,intron_variant,,ENST00000510972,;CTC-210G5.1,intron_variant,,ENST00000509993,;CTC-210G5.1,intron_variant,,ENST00000506053,;CTC-210G5.1,intron_variant,,ENST00000503529,;SNCAIP,3_prime_UTR_variant,,ENST00000395469,;SNCAIP,3_prime_UTR_variant,,ENST00000512385,;SNCAIP,3_prime_UTR_variant,,ENST00000508017,;SNCAIP,3_prime_UTR_variant,,ENST00000510658,;SNCAIP,3_prime_UTR_variant,,ENST00000509023,;SNCAIP,3_prime_UTR_variant,,ENST00000395466,;SNCAIP,3_prime_UTR_variant,,ENST00000512146,;SNCAIP,3_prime_UTR_variant,,ENST00000515215,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000513719,;SNCAIP,downstream_gene_variant,,ENST00000510003,;							MODERATE	1531/2760	V511M	SNCAP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261368		CCDS4131.1			1	
KNTC1	0	LGGM	GRCh37	12	123067289	123067289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	42	9	.	.	ENST00000333479.7:c.3020G>T	p.Ser1007Ile	p.S1007I	ENST00000333479	NM_014708.4	1007	aGc/aTc	0	1	1	UPI0000047FD6	0	NA	ENST00000333479		ENSG00000184445	17255		51	1.39		HGNC	p.S1007I		KNTC1		SNV							ENST00000333479	protein_coding	getma.org/?cm=var&var=hg19,12,123067289,G,T&fts=all		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688		S/I		T	low	3197/6975		getma.org/?cm=msa&ty=f&p=KNTC1_HUMAN&rb=1001&re=1200&var=S1007I	tolerated(0.08)	J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,missense_variant,p.Ser1007Ile,ENST00000333479,NM_014708.4;KNTC1,intron_variant,,ENST00000450485,;							MODERATE	3020/6630	S1007I	KNTC1_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000328236		CCDS45002.1			1	
TUBA3C	0	LGGM	GRCh37	13	19751083	19751083	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	36	9	.	.	ENST00000400113.3:c.1040G>T	p.Cys347Phe	p.C347F	ENST00000400113	NM_006001.2	347	tGc/tTc	0	1	1	UPI0000027DB1	0		ENST00000400113		ENSG00000198033	12408		45			HGNC	p.C347F	rs556420373	TUBA3C	6.19E-05	SNV				9.65E-05			ENST00000400113	protein_coding		A:0.0265	hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01162		C/F		A		1145/1551	7.54E-05		deleterious_low_confidence(0)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN	A:0.0303	A:0.0397	YES	TUBA3C,missense_variant,p.Cys347Phe,ENST00000400113,NM_006001.2;	0.000116	A:0.0313					MODERATE	1040/1353		TBA3C_HUMAN	0.000153	A:0.0298	Transcript		probably_damaging(0.948)	.	ENSP00000382982	0.000115	CCDS9284.1		A:0.0317	1	
CD163	0	LGGM	GRCh37	12	7640410	7640410	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	33	9	.	.	ENST00000359156.4:c.1694G>A	p.Gly565Glu	p.G565E	ENST00000359156	NM_004244.5	565	gGa/gAa	0	1	1	UPI00004565CC	0	getma.org/pdb.php?prot=C163A_HUMAN&from=481&to=578&var=G565E	ENST00000359156		ENSG00000177575	1631		42	0.325		HGNC	p.G565E	COSM3872527,COSM3872528	CD163		SNV						1,1	ENST00000432237	protein_coding	getma.org/?cm=var&var=hg19,12,7640410,C,T&fts=all		PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487		G/E		T	neutral	1897/4268		getma.org/?cm=msa&ty=f&p=C163A_HUMAN&rb=481&re=578&var=G565E	tolerated(0.09)				YES	CD163,missense_variant,p.Gly565Glu,ENST00000359156,NM_004244.5;CD163,missense_variant,p.Gly565Glu,ENST00000396620,;CD163,missense_variant,p.Gly565Glu,ENST00000432237,NM_203416.3;CD163,missense_variant,p.Gly553Glu,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,;					1,1		MODERATE	1694/3471	G565E	C163A_HUMAN			Transcript		benign(0.068)	.	ENSP00000352071		CCDS8578.1			1	
B4GALT2	0	LGGM	GRCh37	1	44451258	44451258	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	42	10	.	.	ENST00000309519.7:c.1020C>T	p.His340=	p.H340=	ENST00000309519		340	caC/caT	0	1		UPI000012671E	0		ENST00000356836		ENSG00000117411	925		52			HGNC	p.H311H	rs369917000	B4GALT2		SNV	T:0.0002			9.81E-05			ENST00000356836	protein_coding			Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF02709,hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF32		H	T:0	T		1723/2629	4.53E-05			B3KQA5_HUMAN				B4GALT2,synonymous_variant,p.=,ENST00000356836,NM_001005417.2,NM_030587.2;B4GALT2,synonymous_variant,p.=,ENST00000372324,NM_003780.4;B4GALT2,synonymous_variant,p.=,ENST00000434555,;B4GALT2,synonymous_variant,p.=,ENST00000309519,;B4GALT2,non_coding_transcript_exon_variant,,ENST00000481924,;B4GALT2,downstream_gene_variant,,ENST00000497866,;B4GALT2,downstream_gene_variant,,ENST00000485678,;B4GALT2,downstream_gene_variant,,ENST00000498543,;	0.000232						LOW	933/1119		B4GT2_HUMAN			Transcript			.	ENSP00000349293	4.94E-05	CCDS506.1			1	
RPS3A	0	LGGM	GRCh37	4	152021702	152021702	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	37	10	.	.	ENST00000274065.4:c.128A>C	p.Asn43Thr	p.N43T	ENST00000274065	NM_001006.4	43	aAt/aCt	0	1	1	UPI000013D9EC	0	getma.org/pdb.php?prot=RS3A_HUMAN&from=12&to=222&var=N43T	ENST00000274065		ENSG00000145425	10421		47	1.6		HGNC	p.N6T		RPS3A		SNV							ENST00000514682	protein_coding	getma.org/?cm=var&var=hg19,4,152021702,A,C&fts=all		HAMAP:MF_03122,hmmpanther:PTHR11830,Pfam_domain:PF01015		N/T		C	low	208/934		getma.org/?cm=msa&ty=f&p=RS3A_HUMAN&rb=12&re=222&var=N43T	tolerated(0.12)	D6RGE0_HUMAN,D6RED7_HUMAN,D6RB09_HUMAN,D6RAT0_HUMAN,D6RAS7_HUMAN,D6R9B6_HUMAN			YES	RPS3A,missense_variant,p.Asn30Thr,ENST00000322686,;RPS3A,missense_variant,p.Asn6Thr,ENST00000514682,;RPS3A,missense_variant,p.Asn43Thr,ENST00000274065,NM_001006.4;RPS3A,missense_variant,p.Asn6Thr,ENST00000506126,;RPS3A,missense_variant,p.Asn43Thr,ENST00000512690,;RPS3A,missense_variant,p.Asn23Thr,ENST00000510993,;RPS3A,missense_variant,p.Asn38Thr,ENST00000512797,;RPS3A,missense_variant,p.Asn6Thr,ENST00000507327,;RPS3A,missense_variant,p.Asn37Thr,ENST00000515792,;RPS3A,missense_variant,p.Asn6Thr,ENST00000505243,;RPS3A,missense_variant,p.Asn6Thr,ENST00000508783,;RPS3A,missense_variant,p.Asn6Thr,ENST00000503002,;RPS3A,intron_variant,,ENST00000509736,;SNORD73,upstream_gene_variant,,ENST00000364394,;SNORD73A,upstream_gene_variant,,ENST00000386062,NR_000007.1;SH3D19,downstream_gene_variant,,ENST00000604922,;RPS3A,missense_variant,p.Asn43Thr,ENST00000515818,;RPS3A,non_coding_transcript_exon_variant,,ENST00000507485,;							MODERATE	128/795	N43T	RS3A_HUMAN			Transcript		benign(0.048)	.	ENSP00000346050		CCDS3775.1			1	
COG1	0	LGGM	GRCh37	17	71197740	71197740	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	22	10	.	.	ENST00000299886.4:c.1774A>G	p.Ile592Val	p.I592V	ENST00000299886	NM_018714.2	592	Att/Gtt	0	1	1	UPI0000127E34	0	NA	ENST00000299886		ENSG00000166685	6545		32	0.145		HGNC	p.I592V		COG1		SNV			1				ENST00000299886	protein_coding	getma.org/?cm=var&var=hg19,17,71197740,A,G&fts=all		hmmpanther:PTHR31658,hmmpanther:PTHR31658:SF0		I/V		G	neutral	1854/3079		getma.org/?cm=msa&ty=f&p=COG1_HUMAN&rb=494&re=693&var=I592V	tolerated(1)	J3KSY3_HUMAN			YES	COG1,missense_variant,p.Ile592Val,ENST00000438720,;COG1,missense_variant,p.Ile592Val,ENST00000299886,NM_018714.2;COG1,upstream_gene_variant,,ENST00000582672,;COG1,upstream_gene_variant,,ENST00000582512,;COG1,downstream_gene_variant,,ENST00000582587,;COG1,upstream_gene_variant,,ENST00000577238,;COG1,upstream_gene_variant,,ENST00000580271,;COG1,upstream_gene_variant,,ENST00000577844,;							MODERATE	1774/2943	I592V	COG1_HUMAN			Transcript		benign(0.001)	.	ENSP00000299886		CCDS11692.1			1	
ASB5	0	LGGM	GRCh37	4	177190254	177190254	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	31	10	.	.	ENST00000296525.3:c.6G>A	p.Ser2=	p.S2=	ENST00000296525	NM_080874.3	2	tcG/tcA	0	1	1	UPI00000015CF	0		ENST00000296525		ENSG00000164122	17180		41			HGNC	p.S2S	rs559244303	ASB5		SNV							ENST00000296525	protein_coding		T:0	hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF13		S		T		120/3031				Q5HYF3_HUMAN,D6R9Q2_HUMAN	T:0	T:0.001	YES	ASB5,synonymous_variant,p.=,ENST00000296525,NM_080874.3;ASB5,synonymous_variant,p.=,ENST00000505299,;	0.000116	T:0.0002					LOW	6/990		ASB5_HUMAN		T:0	Transcript			.	ENSP00000296525	8.24E-06	CCDS3827.1		T:0	1	
RPS3A	0	LGGM	GRCh37	4	152021710	152021710	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	40	10	.	.	ENST00000274065.4:c.136A>C	p.Lys46Gln	p.K46Q	ENST00000274065	NM_001006.4	46	Aag/Cag	0	1	1	UPI000013D9EC	0	getma.org/pdb.php?prot=RS3A_HUMAN&from=12&to=222&var=K46Q	ENST00000274065		ENSG00000145425	10421		50	2.465		HGNC	p.K9Q		RPS3A		SNV							ENST00000514682	protein_coding	getma.org/?cm=var&var=hg19,4,152021710,A,C&fts=all		HAMAP:MF_03122,hmmpanther:PTHR11830,Pfam_domain:PF01015		K/Q		C	medium	216/934		getma.org/?cm=msa&ty=f&p=RS3A_HUMAN&rb=12&re=222&var=K46Q	tolerated(0.06)	D6RGE0_HUMAN,D6RED7_HUMAN,D6RB09_HUMAN,D6RAT0_HUMAN,D6RAS7_HUMAN,D6R9B6_HUMAN			YES	RPS3A,missense_variant,p.Lys33Gln,ENST00000322686,;RPS3A,missense_variant,p.Lys9Gln,ENST00000514682,;RPS3A,missense_variant,p.Lys46Gln,ENST00000274065,NM_001006.4;RPS3A,missense_variant,p.Lys9Gln,ENST00000506126,;RPS3A,missense_variant,p.Lys46Gln,ENST00000512690,;RPS3A,missense_variant,p.Lys26Gln,ENST00000510993,;RPS3A,missense_variant,p.Lys41Gln,ENST00000512797,;RPS3A,missense_variant,p.Lys9Gln,ENST00000507327,;RPS3A,missense_variant,p.Lys40Gln,ENST00000515792,;RPS3A,missense_variant,p.Lys9Gln,ENST00000505243,;RPS3A,missense_variant,p.Lys9Gln,ENST00000508783,;RPS3A,missense_variant,p.Lys9Gln,ENST00000503002,;RPS3A,intron_variant,,ENST00000509736,;SNORD73,upstream_gene_variant,,ENST00000364394,;SNORD73A,upstream_gene_variant,,ENST00000386062,NR_000007.1;SH3D19,downstream_gene_variant,,ENST00000604922,;RPS3A,missense_variant,p.Lys46Gln,ENST00000515818,;RPS3A,non_coding_transcript_exon_variant,,ENST00000507485,;							MODERATE	136/795	K46Q	RS3A_HUMAN			Transcript		benign(0.069)	.	ENSP00000346050		CCDS3775.1			1	
ZNF786	0	LGGM	GRCh37	7	148768169	148768169	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	41	10	.	.	ENST00000491431.1:c.1695C>A	p.Phe565Leu	p.F565L	ENST00000491431	NM_152411.3	565	ttC/ttA	0	1	1	UPI000013FD40	0	getma.org/pdb.php?prot=ZN786_HUMAN&from=548&to=578&var=F565L	ENST00000491431		ENSG00000197362	21806		51	1.93		HGNC	p.F528L		ZNF786		SNV							ENST00000451334	protein_coding	getma.org/?cm=var&var=hg19,7,148768169,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/L		T	medium	1760/2874		getma.org/?cm=msa&ty=f&p=ZN786_HUMAN&rb=548&re=578&var=F565L	deleterious(0.01)	H7BXP3_HUMAN,B4DMI1_HUMAN			YES	ZNF786,missense_variant,p.Phe479Leu,ENST00000316286,;ZNF786,missense_variant,p.Phe528Leu,ENST00000451334,;ZNF786,missense_variant,p.Phe565Leu,ENST00000491431,NM_152411.3;							MODERATE	1695/2349	F565L	ZN786_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000417470		CCDS47738.1			1	
KRTAP4-11	0	LGGM	GRCh37	17	39274446	39274446	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	48	10	.	.	ENST00000391413.2:c.122G>A	p.Arg41His	p.R41H	ENST00000391413	NM_033059.3	41	cGc/cAc	0	1	1	UPI00001AFBF7	0	NA	ENST00000391413		ENSG00000212721	18911		58	2.73		HGNC	p.R41H	rs750400835,COSM3402868	KRTAP4-11		SNV				0.000105		0,1	ENST00000391413	protein_coding	getma.org/?cm=var&var=hg19,17,39274446,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1,Pfam_domain:PF13885		R/H		T	medium	161/1174	4.56E-05	getma.org/?cm=msa&ty=f&p=KR411_HUMAN&rb=34&re=78&var=R41H	tolerated(0.06)				YES	KRTAP4-11,missense_variant,p.Arg41His,ENST00000391413,NM_033059.3;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.2;					0,1		MODERATE	122/588	R41H	KR411_HUMAN			Transcript		unknown(0)	.	ENSP00000375232	3.30E-05	CCDS45675.1			1	
PIK3CA	0	LGGM	GRCh37	3	178952085	178952085	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	29	10	.	.	ENST00000263967.3:c.3140A>T	p.His1047Leu	p.H1047L	ENST00000263967	NM_006218.2	1047	cAt/cTt	0	1	1	UPI000013D494	0	getma.org/pdb.php?prot=PK3CA_HUMAN&from=797&to=1068&var=H1047L	ENST00000263967	pathogenic	ENSG00000121879	8975		39	-1.325		HGNC	p.H1047L	rs121913279,COSM776,COSM94987	PIK3CA		SNV			1			1,1,1	ENST00000263967	protein_coding	getma.org/?cm=var&var=hg19,3,178952085,A,T&fts=all		PROSITE_profiles:PS50290,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112		H/L		T	neutral	3297/9093		getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=797&re=1068&var=H1047L	tolerated(0.44)	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN			YES	PIK3CA,missense_variant,p.His1047Leu,ENST00000263967,NM_006218.2;RP11-245C23.3,downstream_gene_variant,,ENST00000609807,;					0,1,1		MODERATE	3140/3207	H1047L	PK3CA_HUMAN			Transcript		benign(0.085)	.	ENSP00000263967		CCDS43171.1			1	25710561
PTPN3	0	LGGM	GRCh37	9	112225712	112225712	+	start_lost	Translation_Start_Site	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	48	11	.	.	ENST00000374541.2:c.3G>A	p.Met1?	p.M1?	ENST00000374541	NM_001145368.1	1	atG/atA	0	1	1	UPI000013D2D2	0	NA	ENST00000374541		ENSG00000070159	9655		59	0		HGNC	p.M1I		PTPN3		SNV			1				ENST00000374541	protein_coding	getma.org/?cm=var&var=hg19,9,112225712,C,T&fts=all		hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927		M/I		T	NA	108/6703		http://getma.org/?cm=msa&ty=f&p=PTN3_HUMAN&rb=1&re=32&var=M1I	deleterious(0)	B7Z8K9_HUMAN			YES	PTPN3,start_lost,p.Met1?,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,5_prime_UTR_variant,,ENST00000262539,;							HIGH	Mar-42	M1I	PTN3_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000363667		CCDS6776.1			1	
S100A14	0	LGGM	GRCh37	1	153587442	153587442	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	31	11	.	.	ENST00000368702.1:c.234A>C	p.Lys78Asn	p.K78N	ENST00000368702		78	aaA/aaC	0	1		UPI000000123E	0	getma.org/pdb.php?prot=S10AE_HUMAN&from=61&to=104&var=K78N	ENST00000344616		ENSG00000189334	18901		42	1.5		HGNC	p.K78N		S100A14		SNV							ENST00000368702	protein_coding	getma.org/?cm=var&var=hg19,1,153587442,T,G&fts=all		Gene3D:1.10.238.10,hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF4,Superfamily_domains:SSF47473		K/N		G	low	332/1017		getma.org/?cm=msa&ty=f&p=S10AE_HUMAN&rb=61&re=104&var=K78N	deleterious(0.01)					S100A14,missense_variant,p.Lys78Asn,ENST00000368702,;S100A14,missense_variant,p.Lys78Asn,ENST00000368701,;S100A14,missense_variant,p.Lys78Asn,ENST00000476873,;S100A14,missense_variant,p.Lys78Asn,ENST00000344616,NM_020672.2;S100A16,upstream_gene_variant,,ENST00000368706,NM_080388.1;S100A13,downstream_gene_variant,,ENST00000368699,NM_001024210.1;S100A13,downstream_gene_variant,,ENST00000440685,NM_005979.2;S100A13,downstream_gene_variant,,ENST00000392623,NM_001024212.1;S100A13,downstream_gene_variant,,ENST00000392622,NM_001024213.1;S100A13,downstream_gene_variant,,ENST00000339556,;S100A14,non_coding_transcript_exon_variant,,ENST00000368700,;S100A14,non_coding_transcript_exon_variant,,ENST00000469571,;S100A13,downstream_gene_variant,,ENST00000491177,;S100A13,downstream_gene_variant,,ENST00000476133,;S100A16,upstream_gene_variant,,ENST00000474991,;							MODERATE	234/315	K78N	S10AE_HUMAN			Transcript		benign(0.327)	.	ENSP00000340463		CCDS1046.1			1	
CLEC2D	0	LGGM	GRCh37	12	9833592	9833592	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	19	11	.	.	ENST00000261340.7:c.135G>A	p.Leu45=	p.L45=	ENST00000261340	NM_001004419.4	45	ctG/ctA	0	1		UPI000006DF3A	0		ENST00000290855		ENSG00000069493	14351		30			HGNC	p.L45L		CLEC2D		SNV							ENST00000479877	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR22800:SF20,hmmpanther:PTHR22800,Superfamily_domains:SSF56436		L		A		157/859				F5H7V6_HUMAN				CLEC2D,synonymous_variant,p.=,ENST00000261340,NM_001004419.4;CLEC2D,synonymous_variant,p.=,ENST00000290855,NM_013269.5;CLEC2D,synonymous_variant,p.=,ENST00000430909,;CLEC2D,synonymous_variant,p.=,ENST00000543300,NM_001197318.2;CLEC2D,synonymous_variant,p.=,ENST00000544322,;CLEC2D,intron_variant,,ENST00000466035,;CLEC2D,intron_variant,,ENST00000261339,NM_001197317.2;CLEC2D,intron_variant,,ENST00000545918,NM_001197319.2;CLEC2D,non_coding_transcript_exon_variant,,ENST00000487752,;CLEC2D,synonymous_variant,p.=,ENST00000479877,;CLEC2D,synonymous_variant,p.=,ENST00000325960,;CLEC2D,synonymous_variant,p.=,ENST00000444971,;CLEC2D,synonymous_variant,p.=,ENST00000476198,;CLEC2D,synonymous_variant,p.=,ENST00000536355,;CLEC2D,3_prime_UTR_variant,,ENST00000492359,;							LOW	135/576		CLC2D_HUMAN			Transcript			.	ENSP00000290855		CCDS8602.1			1	
XYLT2	0	LGGM	GRCh37	17	48435647	48435647	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	17	11	.	.	ENST00000017003.2:c.2021C>T	p.Ala674Val	p.A674V	ENST00000017003	NM_022167.2	674	gCc/gTc	0	1	1	UPI000013C536	0	NA	ENST00000017003		ENSG00000015532	15517		28	2.095		HGNC	p.A674V		XYLT2		SNV							ENST00000017003	protein_coding	getma.org/?cm=var&var=hg19,17,48435647,C,T&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF79,Pfam_domain:PF12529		A/V		T	medium	2070/3507		getma.org/?cm=msa&ty=f&p=XYLT2_HUMAN&rb=519&re=700&var=A674V	tolerated(0.15)				YES	XYLT2,missense_variant,p.Ala674Val,ENST00000017003,NM_022167.2;XYLT2,intron_variant,,ENST00000507602,;XYLT2,downstream_gene_variant,,ENST00000574840,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,missense_variant,p.Pro609Ser,ENST00000376550,;XYLT2,3_prime_UTR_variant,,ENST00000511654,;XYLT2,upstream_gene_variant,,ENST00000571021,;							MODERATE	2021/2598	A674V	XYLT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000017003		CCDS11563.1			1	
BAG4	0	LGGM	GRCh37	8	38066548	38066548	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	32	11	.	.	ENST00000287322.4:c.651G>T	p.Leu217=	p.L217=	ENST00000287322	NM_004874.3	217	ctG/ctT	0	1	1	UPI0000126769	0		ENST00000287322		ENSG00000156735	940		43			HGNC	p.L181L		BAG4		SNV							ENST00000432471	protein_coding			hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329		L		T		922/4453							YES	BAG4,synonymous_variant,p.=,ENST00000287322,NM_004874.3;BAG4,synonymous_variant,p.=,ENST00000432471,NM_001204878.1;BAG4,synonymous_variant,p.=,ENST00000521311,;BAG4,downstream_gene_variant,,ENST00000521282,;RP11-90P5.1,upstream_gene_variant,,ENST00000503480,;							LOW	651/1374		BAG4_HUMAN			Transcript			.	ENSP00000287322		CCDS6104.1			1	
ADH4	0	LGGM	GRCh37	4	100062820	100062820	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	48	11	.	.	ENST00000265512.7:c.134C>G	p.Ser45Cys	p.S45C	ENST00000265512	NM_000670.3	45	tCt/tGt	0	1	1	UPI00001AE8DE	0	getma.org/pdb.php?prot=ADH4_HUMAN&from=34&to=166&var=S45C	ENST00000265512		ENSG00000198099	252		59	0.995		HGNC	p.S64C		ADH4		SNV							ENST00000423445	protein_coding	getma.org/?cm=var&var=hg19,4,100062820,G,C&fts=all		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,SMART_domains:SM00829,Superfamily_domains:SSF50129		S/C		C	low	209/1993		getma.org/?cm=msa&ty=f&p=ADH4_HUMAN&rb=34&re=166&var=S45C	deleterious(0.01)				YES	ADH4,missense_variant,p.Ser64Cys,ENST00000508393,;ADH4,missense_variant,p.Ser45Cys,ENST00000265512,NM_000670.3;ADH4,missense_variant,p.Ser64Cys,ENST00000423445,;ADH4,missense_variant,p.Ser64Cys,ENST00000505590,;ADH4,missense_variant,p.Ser64Cys,ENST00000512499,;ADH4,missense_variant,p.Ser45Cys,ENST00000504125,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,non_coding_transcript_exon_variant,,ENST00000504581,;ADH4,intron_variant,,ENST00000503944,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,3_prime_UTR_variant,,ENST00000504894,;ADH4,non_coding_transcript_exon_variant,,ENST00000503416,;							MODERATE	134/1143	S45C	ADH4_HUMAN			Transcript		benign(0.006)	.	ENSP00000265512		CCDS34032.1			1	
POTEI	0	LGGM	GRCh37	2	131258204	131258204	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	51	11	.	.	ENST00000451531.2:c.822A>T	p.Thr274=	p.T274=	ENST00000451531	NM_001277406.1	274	acA/acT	0	1	1	UPI00006C04CB	0		ENST00000451531		ENSG00000196834	37093		62			HGNC	p.T274T		POTEI		SNV							ENST00000451531	protein_coding			Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,SMART_domains:SM00248,Superfamily_domains:SSF48403		T		A		1253/7020							YES	POTEI,synonymous_variant,p.=,ENST00000451531,NM_001277406.1;RNU6-473P,upstream_gene_variant,,ENST00000516164,;							LOW	822/3228		POTEI_HUMAN			Transcript			.	ENSP00000392718		CCDS59431.1			1	
NFATC3	0	LGGM	GRCh37	16	68155945	68155945	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	81	11	.	.	ENST00000346183.3:c.159A>G	p.Pro53=	p.P53=	ENST00000346183	NM_173165.2	53	ccA/ccG	0	1	1	UPI0000000C21	0		ENST00000346183		ENSG00000072736	7777	0.000259	92			HGNC	p.P53P	rs753346455	NFATC3		SNV							ENST00000575270	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12533:SF6,hmmpanther:PTHR12533		P		G		183/6040				B5B2S4_HUMAN,B5B2S1_HUMAN			YES	NFATC3,synonymous_variant,p.=,ENST00000349223,NM_173163.2;NFATC3,synonymous_variant,p.=,ENST00000329524,NM_004555.3;NFATC3,synonymous_variant,p.=,ENST00000346183,NM_173165.2;NFATC3,synonymous_variant,p.=,ENST00000575270,;NFATC3,synonymous_variant,p.=,ENST00000562926,;NFATC3,synonymous_variant,p.=,ENST00000570212,;NFATC3,upstream_gene_variant,,ENST00000565750,;NFATC3,non_coding_transcript_exon_variant,,ENST00000535127,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563319,;NFATC3,non_coding_transcript_exon_variant,,ENST00000566301,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563288,;NFATC3,non_coding_transcript_exon_variant,,ENST00000563796,;NFATC3,non_coding_transcript_exon_variant,,ENST00000569766,;NFATC3,non_coding_transcript_exon_variant,,ENST00000567152,;RP11-67A1.2,non_coding_transcript_exon_variant,,ENST00000548144,;NFATC3,intron_variant,,ENST00000566893,;NFATC3,non_coding_transcript_exon_variant,,ENST00000553077,;NFATC3,non_coding_transcript_exon_variant,,ENST00000549350,;NFATC3,non_coding_transcript_exon_variant,,ENST00000379165,;NFATC3,intron_variant,,ENST00000539828,;NFATC3,intron_variant,,ENST00000561714,;NFATC3,intron_variant,,ENST00000568466,;NFATC3,intron_variant,,ENST00000562171,;							LOW	159/3228		NFAC3_HUMAN			Transcript			.	ENSP00000300659	2.47E-05	CCDS10860.1			1	
LRRC66	0	LGGM	GRCh37	4	52861973	52861973	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	22	12	.	.	ENST00000343457.3:c.1215G>C	p.Trp405Cys	p.W405C	ENST00000343457	NM_001024611.1	405	tgG/tgC	0	1	1	UPI0000425C5B	0	NA	ENST00000343457		ENSG00000188993	34299		34	1.845		HGNC	p.W405C		LRRC66		SNV							ENST00000343457	protein_coding	getma.org/?cm=var&var=hg19,4,52861973,C,G&fts=all		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF55		W/C		G	low	1222/3327		getma.org/?cm=msa&ty=f&p=LRC66_HUMAN&rb=361&re=436&var=W405C	deleterious(0.05)				YES	LRRC66,missense_variant,p.Trp405Cys,ENST00000343457,NM_001024611.1;							MODERATE	1215/2643	W405C	LRC66_HUMAN			Transcript		possibly_damaging(0.514)	.	ENSP00000341944		CCDS43229.1			1	
C14orf23	0	LGGM	GRCh37	14	29261364	29261364	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	68	12	.	.	ENST00000399387.4:c.401G>T	p.Gly134Val	p.G134V	ENST00000399387		134	gGg/gTg	0	1	1	UPI0000160243	0		ENST00000399387		ENSG00000186960	19828		80			HGNC	p.G134V		C14orf23		SNV							ENST00000399387	protein_coding					G/V		T		505/1575			deleterious_low_confidence(0)				YES	C14orf23,missense_variant,p.Gly134Val,ENST00000399387,;C14orf23,intron_variant,,ENST00000548213,;C14orf23,intron_variant,,ENST00000550266,;							MODERATE	401/504		CN023_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000382318					1	
TACC2	0	LGGM	GRCh37	10	123845063	123845063	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	18	12	.	.	ENST00000369005.1:c.3048A>T	p.Gly1016=	p.G1016=	ENST00000369005	NM_206862.2	1016	ggA/ggT	0	1		UPI0000246F6B	0		ENST00000334433		ENSG00000138162	11523		30			HGNC	p.G1016G		TACC2		SNV							ENST00000369005	protein_coding			hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		G		T		3094/9377								TACC2,synonymous_variant,p.=,ENST00000369005,NM_206862.2;TACC2,synonymous_variant,p.=,ENST00000334433,;TACC2,synonymous_variant,p.=,ENST00000515273,;TACC2,synonymous_variant,p.=,ENST00000515603,;TACC2,synonymous_variant,p.=,ENST00000453444,;TACC2,intron_variant,,ENST00000513429,NM_206861.1;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;							LOW	3048/8847		TACC2_HUMAN			Transcript			.	ENSP00000334280		CCDS7626.1			1	
PAK7	0	LGGM	GRCh37	20	9561251	9561251	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	55	12	.	.	ENST00000353224.5:c.531C>T	p.His177=	p.H177=	ENST00000353224	NM_177990.2	177	caC/caT	0	1		UPI0000035BAD	0		ENST00000353224		ENSG00000101349	15916		67			HGNC	p.H177H	COSM300386	PAK7		SNV						1	ENST00000353224	protein_coding			hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183		H		A		798/4500				Q9UJQ0_HUMAN				PAK7,synonymous_variant,p.=,ENST00000378429,NM_020341.3;PAK7,synonymous_variant,p.=,ENST00000378423,;PAK7,synonymous_variant,p.=,ENST00000353224,NM_177990.2;RP5-986I17.2,downstream_gene_variant,,ENST00000428769,;					1		LOW	531/2160		PAK7_HUMAN			Transcript			.	ENSP00000322957		CCDS13107.1			1	
CALU	0	LGGM	GRCh37	7	128388835	128388835	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	34	12	.	.	ENST00000542996.2:c.222A>T	p.Pro74=	p.P74=	ENST00000542996	NM_001199672.1	74	ccA/ccT	0	1		UPI0000000DCD	0		ENST00000249364		ENSG00000128595	1458		46			HGNC	p.P74P		CALU		SNV							ENST00000542996	protein_coding			Gene3D:1.10.238.10,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF34,Superfamily_domains:SSF47473		P		T		300/3357				Q6IAW5_HUMAN				CALU,synonymous_variant,p.=,ENST00000535623,NM_001199671.1;CALU,synonymous_variant,p.=,ENST00000542996,NM_001199672.1;CALU,synonymous_variant,p.=,ENST00000249364,NM_001219.4;CALU,synonymous_variant,p.=,ENST00000535011,NM_001199673.1;CALU,synonymous_variant,p.=,ENST00000479257,;CALU,synonymous_variant,p.=,ENST00000449187,NM_001130674.2;CALU,intron_variant,,ENST00000538546,;							LOW	198/948		CALU_HUMAN			Transcript			.	ENSP00000249364		CCDS5805.1			1	
HPS1	0	LGGM	GRCh37	10	100195394	100195394	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	47	12	.	.	ENST00000325103.6:c.253C>G	p.Leu85Val	p.L85V	ENST00000325103	NM_000195.3	85	Ctg/Gtg	0	1	1	UPI000006D5B0	0	NA	ENST00000325103		ENSG00000107521	5163		59	2.14		HGNC	p.L85V		HPS1		SNV			1				ENST00000325103	protein_coding	getma.org/?cm=var&var=hg19,10,100195394,G,C&fts=all		hmmpanther:PTHR12761		L/V		C	medium	487/3703		getma.org/?cm=msa&ty=f&p=HPS1_HUMAN&rb=1&re=474&var=L85V	tolerated(0.12)				YES	HPS1,missense_variant,p.Leu85Val,ENST00000325103,NM_000195.3;HPS1,missense_variant,p.Leu85Val,ENST00000361490,;HPS1,missense_variant,p.Leu85Val,ENST00000338546,NM_182639.2;HPS1,upstream_gene_variant,,ENST00000359632,;HPS1,upstream_gene_variant,,ENST00000414009,;MIR4685,upstream_gene_variant,,ENST00000578185,;HPS1,splice_region_variant,,ENST00000467246,;HPS1,splice_region_variant,,ENST00000498219,;HPS1,splice_region_variant,,ENST00000480020,;HPS1,splice_region_variant,,ENST00000474873,;HPS1,upstream_gene_variant,,ENST00000478087,;HPS1,upstream_gene_variant,,ENST00000470095,;							MODERATE	253/2103	L85V	HPS1_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000326649		CCDS7475.1			1	
ZNF460	0	LGGM	GRCh37	19	57795963	57795963	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	52	12	.	.	ENST00000360338.3:c.75G>C	p.Glu25Asp	p.E25D	ENST00000360338	NM_006635.3	25	gaG/gaC	0	1	1	UPI0000202D11	0	getma.org/pdb.php?prot=ZN460_HUMAN&from=13&to=53&var=E25D	ENST00000360338		ENSG00000197714	21628		64	2.175		HGNC	p.E25D		ZNF460		SNV							ENST00000360338	protein_coding	getma.org/?cm=var&var=hg19,19,57795963,G,C&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF15,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		E/D		C	medium	397/3350		getma.org/?cm=msa&ty=f&p=ZN460_HUMAN&rb=13&re=53&var=E25D	deleterious(0.04)	M0R0J6_HUMAN,B4DNX9_HUMAN			YES	ZNF460,missense_variant,p.Glu25Asp,ENST00000360338,NM_006635.3;ZNF460,5_prime_UTR_variant,,ENST00000537645,;ZNF460,5_prime_UTR_variant,,ENST00000599602,;CTC-444N24.6,upstream_gene_variant,,ENST00000601567,;CTC-444N24.6,upstream_gene_variant,,ENST00000597601,;							MODERATE	75/1689	E25D	ZN460_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000353491		CCDS12949.1			1	
CHD8	0	LGGM	GRCh37	14	21897232	21897232	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	41	12	.	.	ENST00000399982.2:c.1106C>T	p.Ser369Phe	p.S369F	ENST00000399982	NM_001170629.1	369	tCc/tTc	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		53	0.345		HGNC	p.S90F		CHD8		SNV			1				ENST00000430710	protein_coding	getma.org/?cm=var&var=hg19,14,21897232,G,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Low_complexity_(Seg):seg		S/F		A	neutral	1171/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1&re=488&var=S369F	tolerated_low_confidence(0.24)				YES	CHD8,missense_variant,p.Ser369Phe,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Ser369Phe,ENST00000557364,;CHD8,missense_variant,p.Ser90Phe,ENST00000430710,NM_020920.3;CHD8,downstream_gene_variant,,ENST00000553622,;CHD8,downstream_gene_variant,,ENST00000553283,;RN7SL650P,downstream_gene_variant,,ENST00000583681,;CHD8,intron_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000556833,;CHD8,downstream_gene_variant,,ENST00000553651,;							MODERATE	1106/7746	S369F	CHD8_HUMAN			Transcript		benign(0.013)	.	ENSP00000382863		CCDS53885.1			1	
TP53BP1	0	LGGM	GRCh37	15	43749117	43749117	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	38	12	.	.	ENST00000382044.4:c.1689A>G	p.Lys563=	p.K563=	ENST00000382044	NM_001141980.1	563	aaA/aaG	0	1		UPI0000131031	0		ENST00000263801		ENSG00000067369	11999		50			HGNC	p.K563K		TP53BP1		SNV							ENST00000382039	protein_coding			hmmpanther:PTHR15321		K		C		1927/6346				B3KVT9_HUMAN				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,;							LOW	1674/5919		TP53B_HUMAN			Transcript			.	ENSP00000263801		CCDS10096.1			1	
OR4E2	0	LGGM	GRCh37	14	22133880	22133880	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	45	13	.	.	ENST00000408935.1:c.584C>A	p.Thr195Lys	p.T195K	ENST00000408935	NM_001001912.1	195	aCa/aAa	0	1	1	UPI0000041D88	0	NA	ENST00000408935		ENSG00000221977	8297		58	1.21		HGNC	p.T195K		OR4E2		SNV							ENST00000408935	protein_coding	getma.org/?cm=var&var=hg19,14,22133880,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF160,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		T/K		A	low	584/942		getma.org/?cm=msa&ty=f&p=OR4E2_HUMAN&rb=139&re=280&var=T195K	deleterious(0)				YES	OR4E2,missense_variant,p.Thr195Lys,ENST00000408935,NM_001001912.1;OR4E1,downstream_gene_variant,,ENST00000413808,;OR4E1,downstream_gene_variant,,ENST00000303519,;							MODERATE	584/942	T195K	OR4E2_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000386195		CCDS41916.1			1	
NFKB1	0	LGGM	GRCh37	4	103537632	103537632	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	68	13	.	.	ENST00000226574.4:c.2791G>A	p.Glu931Lys	p.E931K	ENST00000226574	NM_003998.3	931	Gag/Aag	0	1		UPI000000D917	0	NA	ENST00000394820		ENSG00000109320	7794		81	0.895		HGNC	p.E931K	COSM1217221	NFKB1		SNV						1	ENST00000226574	protein_coding	getma.org/?cm=var&var=hg19,4,103537632,G,A&fts=all				E/K		A	low	3253/3693		getma.org/?cm=msa&ty=f&p=NFKB1_HUMAN&rb=893&re=968&var=E930K	deleterious_low_confidence(0)	D6RF93_HUMAN				NFKB1,missense_variant,p.Glu931Lys,ENST00000226574,NM_003998.3,NM_001165412.1;NFKB1,missense_variant,p.Glu750Lys,ENST00000600343,;NFKB1,missense_variant,p.Glu930Lys,ENST00000505458,;NFKB1,missense_variant,p.Glu930Lys,ENST00000394820,;					1		MODERATE	2788/2907	E930K	NFKB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000378297		CCDS54783.1			1	
AKT1	0	LGGM	GRCh37	14	105239394	105239394	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	22	13	.	.	ENST00000349310.3:c.993C>G	p.Asp331Glu	p.D331E	ENST00000349310	NM_001014432.1	331	gaC/gaG	0	1		UPI0000070813	0	getma.org/pdb.php?prot=AKT1_HUMAN&from=150&to=408&var=D331E	ENST00000349310		ENSG00000142208	391		35	4.07		HGNC	p.D331E		AKT1		SNV			1				ENST00000407796	protein_coding	getma.org/?cm=var&var=hg19,14,105239394,G,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF30,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/E		C	high	1424/2866		getma.org/?cm=msa&ty=f&p=AKT1_HUMAN&rb=150&re=408&var=D331E	deleterious(0)	B0LPE5_HUMAN,Q9BV07_HUMAN,G3V4I6_HUMAN,G3V3K5_HUMAN,B7Z5R1_HUMAN,B3KXD7_HUMAN				AKT1,missense_variant,p.Asp331Glu,ENST00000554581,;AKT1,missense_variant,p.Asp331Glu,ENST00000402615,;AKT1,missense_variant,p.Asp331Glu,ENST00000555528,NM_005163.2;AKT1,missense_variant,p.Asp331Glu,ENST00000349310,NM_001014432.1;AKT1,missense_variant,p.Asp331Glu,ENST00000407796,NM_001014431.1;AKT1,missense_variant,p.Asp331Glu,ENST00000554848,;AKT1,missense_variant,p.Asp269Glu,ENST00000544168,;AKT1,missense_variant,p.Asp26Glu,ENST00000555458,;AKT1,intron_variant,,ENST00000554192,;AKT1,downstream_gene_variant,,ENST00000555926,;AKT1,downstream_gene_variant,,ENST00000555380,;RP11-982M15.2,downstream_gene_variant,,ENST00000557223,;AKT1,non_coding_transcript_exon_variant,,ENST00000554585,;AKT1,non_coding_transcript_exon_variant,,ENST00000557552,;AKT1,non_coding_transcript_exon_variant,,ENST00000553506,;SIVA1,downstream_gene_variant,,ENST00000553819,;AKT1,downstream_gene_variant,,ENST00000556836,;AKT1,downstream_gene_variant,,ENST00000554826,;							MODERATE	993/1443	D331E	AKT1_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000270202		CCDS9994.1			1	
TEKT1	0	LGGM	GRCh37	17	6703427	6703427	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	56	13	.	.	ENST00000338694.2:c.1176G>A	p.Gln392=	p.Q392=	ENST00000338694	NM_053285.1	392	caG/caA	0	1	1	UPI0000136BA9	0		ENST00000338694		ENSG00000167858	15534		69			HGNC	p.Q392Q		TEKT1		SNV							ENST00000338694	protein_coding			Pfam_domain:PF03148,hmmpanther:PTHR19960		Q		T		1306/3421				F5GZX2_HUMAN			YES	TEKT1,missense_variant,p.Asp123Asn,ENST00000572291,;TEKT1,synonymous_variant,p.=,ENST00000338694,NM_053285.1;TEKT1,synonymous_variant,p.=,ENST00000535086,;TEKT1,intron_variant,,ENST00000571744,;TEKT1,3_prime_UTR_variant,,ENST00000575592,;FBXO39,downstream_gene_variant,,ENST00000575022,;FBXO39,downstream_gene_variant,,ENST00000572251,;							LOW	1176/1257		TEKT1_HUMAN			Transcript			.	ENSP00000341346		CCDS11083.1			1	
ARHGEF17	0	LGGM	GRCh37	11	73075219	73075219	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	45	14	.	.	ENST00000263674.3:c.5336A>T	p.Tyr1779Phe	p.Y1779F	ENST00000263674	NM_014786.3	1779	tAt/tTt	0	1	1	UPI000004980B	0	NA	ENST00000263674		ENSG00000110237	21726		59	2.815		HGNC	p.Y1779F		ARHGEF17		SNV							ENST00000263674	protein_coding	getma.org/?cm=var&var=hg19,11,73075219,A,T&fts=all		hmmpanther:PTHR12877:SF15,hmmpanther:PTHR12877,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		Y/F		T	medium	5686/7853		getma.org/?cm=msa&ty=f&p=ARHGH_HUMAN&rb=1739&re=1938&var=Y1779F	deleterious(0.02)				YES	ARHGEF17,missense_variant,p.Tyr1779Phe,ENST00000263674,NM_014786.3;ARHGEF17,upstream_gene_variant,,ENST00000543530,;ARHGEF17,upstream_gene_variant,,ENST00000536481,;							MODERATE	5336/6192	Y1779F	ARHGH_HUMAN			Transcript		benign(0.056)	.	ENSP00000263674		CCDS8221.1			1	
SMEK1	0	LGGM	GRCh37	14	91948393	91948393	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	44	14	.	.	ENST00000554684.1:c.442G>A	p.Ala148Thr	p.A148T	ENST00000554684	NM_001284280.1	148	Gca/Aca	0	1		UPI000037834C	0	NA	ENST00000554943		ENSG00000100796	20219		58	-0.895		HGNC	p.A148T		SMEK1		SNV							ENST00000337238	protein_coding	getma.org/?cm=var&var=hg19,14,91948393,C,T&fts=all		hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF3		A/T		T	neutral	558/3369		getma.org/?cm=msa&ty=f&p=P4R3A_HUMAN&rb=1&re=163&var=A148T	tolerated(1)	G3V4R3_HUMAN,G3V231_HUMAN				SMEK1,missense_variant,p.Ala148Thr,ENST00000554684,NM_001284280.1;SMEK1,missense_variant,p.Ala148Thr,ENST00000337238,NM_032560.4;SMEK1,missense_variant,p.Ala148Thr,ENST00000554943,;SMEK1,missense_variant,p.Ala148Thr,ENST00000557018,;SMEK1,intron_variant,,ENST00000555462,NM_001284281.1;SMEK1,intron_variant,,ENST00000428424,;SMEK1,intron_variant,,ENST00000555029,;SMEK1,upstream_gene_variant,,ENST00000555470,;SMEK1,downstream_gene_variant,,ENST00000554511,;SMEK1,missense_variant,p.Ala148Thr,ENST00000554390,;SMEK1,missense_variant,p.Ala151Thr,ENST00000554308,;SMEK1,upstream_gene_variant,,ENST00000554574,;							MODERATE	442/2502	A148T	P4R3A_HUMAN			Transcript		benign(0.001)	.	ENSP00000450883					1	
ERCC4	0	LGGM	GRCh37	16	14041861	14041861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	20	14	.	.	ENST00000311895.7:c.2408G>T	p.Cys803Phe	p.C803F	ENST00000311895	NM_005236.2	803	tGc/tTc	0	1	1	UPI0000161BBF	0	NA	ENST00000311895		ENSG00000175595	3436		34	2.38		HGNC	p.C803F		ERCC4		SNV			1				ENST00000311895	protein_coding	getma.org/?cm=var&var=hg19,16,14041861,G,T&fts=all		Gene3D:1j23A00,Pfam_domain:PF02732,hmmpanther:PTHR10150,Superfamily_domains:SSF52980,TIGRFAM_domain:TIGR00596		C/F		T	medium	2417/6758		getma.org/?cm=msa&ty=f&p=XPF_HUMAN&rb=764&re=916&var=C803F	deleterious(0)	B4DXD8_HUMAN			YES	ERCC4,missense_variant,p.Cys803Phe,ENST00000311895,NM_005236.2;ERCC4,3_prime_UTR_variant,,ENST00000462862,;ERCC4,non_coding_transcript_exon_variant,,ENST00000389138,;							MODERATE	2408/2751	C803F	XPF_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000310520		CCDS32390.1			1	
ETAA1	0	LGGM	GRCh37	2	67631040	67631040	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	51	14	.	.	ENST00000272342.5:c.1226A>T	p.His409Leu	p.H409L	ENST00000272342	NM_019002.3	409	cAt/cTt	0	1	1	UPI00001414BC	0	NA	ENST00000272342		ENSG00000143971	24648		65	0		HGNC	p.H409L		ETAA1		SNV							ENST00000272342	protein_coding	getma.org/?cm=var&var=hg19,2,67631040,A,T&fts=all		hmmpanther:PTHR16434:SF1,hmmpanther:PTHR16434,Pfam_domain:PF15350		H/L		T	neutral	1356/3418		getma.org/?cm=msa&ty=f&p=ETAA1_HUMAN&rb=1&re=409&var=H409L	tolerated(0.05)				YES	ETAA1,missense_variant,p.His409Leu,ENST00000272342,NM_019002.3;ETAA1,intron_variant,,ENST00000462772,;							MODERATE	1226/2781	H409L	ETAA1_HUMAN			Transcript		benign(0.075)	.	ENSP00000272342		CCDS1882.1			1	
RAD23A	0	LGGM	GRCh37	19	13059512	13059512	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	52	15	.	.	ENST00000586534.1:c.485A>C	p.Glu162Ala	p.E162A	ENST00000586534		162	gAg/gCg	0	1	1	UPI000000D7F7	0	getma.org/pdb.php?prot=RD23A_HUMAN&from=162&to=198&var=E162A	ENST00000586534		ENSG00000179262	9812		67	0.86		HGNC	p.X143C		RAD23A		SNV							ENST00000591499	protein_coding	getma.org/?cm=var&var=hg19,19,13059512,A,C&fts=all		PROSITE_profiles:PS50030,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF3,Gene3D:1.10.8.10,TIGRFAM_domain:TIGR00601,Superfamily_domains:SSF46934		E/A		C	low	546/1746		getma.org/?cm=msa&ty=f&p=RD23A_HUMAN&rb=162&re=198&var=E162A	tolerated(0.3)	K7ENJ0_HUMAN,B4DDJ7_HUMAN			YES	RAD23A,missense_variant,p.Glu162Ala,ENST00000586534,;RAD23A,missense_variant,p.Glu162Ala,ENST00000316856,NM_005053.3,NM_001270362.1;RAD23A,missense_variant,p.Glu162Ala,ENST00000592268,NM_001270363.1;RAD23A,5_prime_UTR_variant,,ENST00000541222,;CALR,downstream_gene_variant,,ENST00000316448,NM_004343.3;RAD23A,upstream_gene_variant,,ENST00000590881,;CALR,downstream_gene_variant,,ENST00000586760,;CTC-425F1.4,upstream_gene_variant,,ENST00000589120,;RAD23A,non_coding_transcript_exon_variant,,ENST00000588826,;RAD23A,stop_lost,p.Ter143CysextTer2,ENST00000591499,;RAD23A,missense_variant,p.Glu4Ala,ENST00000586375,;RAD23A,3_prime_UTR_variant,,ENST00000593114,;RAD23A,non_coding_transcript_exon_variant,,ENST00000588329,;CALR,downstream_gene_variant,,ENST00000586803,;RAD23A,upstream_gene_variant,,ENST00000591467,;CALR,downstream_gene_variant,,ENST00000586967,;							MODERATE	485/1092	E162A	RD23A_HUMAN			Transcript		benign(0.142)	.	ENSP00000467024		CCDS12289.1			1	
MBD5	0	LGGM	GRCh37	2	149243429	149243429	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	46	16	.	.	ENST00000407073.1:c.2964G>A	p.Gly988=	p.G988=	ENST00000407073	NM_018328.4	988	ggG/ggA	0	1	1	UPI0000208C40	0		ENST00000407073		ENSG00000204406	20444		62			HGNC	p.G1221G		MBD5		SNV			1				ENST00000404807	protein_coding			hmmpanther:PTHR16112,hmmpanther:PTHR16112:SF14,Low_complexity_(Seg):seg		G		A		3961/5992							YES	MBD5,synonymous_variant,p.=,ENST00000416015,;MBD5,synonymous_variant,p.=,ENST00000407073,NM_018328.4;MBD5,synonymous_variant,p.=,ENST00000404807,;MBD5,non_coding_transcript_exon_variant,,ENST00000496893,;							LOW	2964/4485		MBD5_HUMAN			Transcript			.	ENSP00000386049		CCDS33302.1			1	
BRIP1	0	LGGM	GRCh37	17	59763205	59763205	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	45	16	.	.	ENST00000259008.2:c.2897A>G	p.Lys966Arg	p.K966R	ENST00000259008	NM_032043.2	966	aAg/aGg	0	1	1	UPI000013D01F	0	NA	ENST00000259008		ENSG00000136492	20473		61	0.255		HGNC	p.K966R		BRIP1		SNV			1				ENST00000259008	protein_coding	getma.org/?cm=var&var=hg19,17,59763205,T,C&fts=all		hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF6		K/R		C	neutral	3165/6048		getma.org/?cm=msa&ty=f&p=FANCJ_HUMAN&rb=951&re=1248&var=K966R	tolerated_low_confidence(0.32)	J3KS24_HUMAN			YES	BRIP1,missense_variant,p.Lys966Arg,ENST00000259008,NM_032043.2;BRIP1,missense_variant,p.Lys966Arg,ENST00000577598,;							MODERATE	2897/3750	K966R	FANCJ_HUMAN			Transcript		benign(0.009)	.	ENSP00000259008		CCDS11631.1			1	
ZNF30	0	LGGM	GRCh37	19	35435715	35435715	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	68	16	.	.	ENST00000439785.1:c.1848G>T	p.Leu616=	p.L616=	ENST00000439785	NM_001099438.1	616	ctG/ctT	0	1		UPI0000E0464D	0		ENST00000601142		ENSG00000168661	13090		84			HGNC	p.L616L		ZNF30		SNV							ENST00000303586	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355		L		T		2082/2280								ZNF30,synonymous_variant,p.=,ENST00000439785,NM_001099438.1;ZNF30,synonymous_variant,p.=,ENST00000303586,NM_194325.2,NM_001099437.1;ZNF30,synonymous_variant,p.=,ENST00000426813,;ZNF30,synonymous_variant,p.=,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;							LOW	1845/1872		ZNF30_HUMAN			Transcript			.	ENSP00000469954		CCDS46045.1			1	
TTN	0	LGGM	GRCh37	2	179587498	179587498	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	66	17	.	.	ENST00000589042.1:c.22128T>C	p.Asn7376=	p.N7376=	ENST00000589042	NM_001267550.1	7376	aaT/aaC	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		83			HGNC	p.N6132N		TTN		SNV			1				ENST00000342992	protein_coding			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		N		G		21402/104301				C9JQJ2_HUMAN				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,intron_variant,,ENST00000585451,;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,;							LOW	21177/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
AGBL5	0	LGGM	GRCh37	2	27293053	27293053	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	57	17	.	.	ENST00000360131.4:c.2583C>A	p.Tyr861Ter	p.Y861*	ENST00000360131	NM_021831.5	861	taC/taA	0	1	1	UPI000006FE54	0	NA	ENST00000360131		ENSG00000084693	26147		74	0		HGNC	p.Y861X		AGBL5		SNV							ENST00000360131	protein_coding	getma.org/?cm=var&var=hg19,2,27293053,C,A&fts=all		hmmpanther:PTHR12756		Y/*		A	NA	2742/3177		NA		C9JTY1_HUMAN,C9JQG9_HUMAN,C9JHM6_HUMAN,C9JCE1_HUMAN			YES	AGBL5,stop_gained,p.Tyr861Ter,ENST00000360131,NM_021831.5;OST4,downstream_gene_variant,,ENST00000456793,NM_001134693.1;OST4,downstream_gene_variant,,ENST00000429985,;AGBL5,downstream_gene_variant,,ENST00000441931,;OST4,downstream_gene_variant,,ENST00000447619,;AGBL5,3_prime_UTR_variant,,ENST00000487078,;							HIGH	2583/2661	Y861*	CBPC5_HUMAN			Transcript			.	ENSP00000353249		CCDS1732.3			1	
PDHA2	0	LGGM	GRCh37	4	96761401	96761401	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	23	18	.	.	ENST00000295266.4:c.100T>G	p.Phe34Val	p.F34V	ENST00000295266	NM_005390.4	34	Ttt/Gtt	0	1	1	UPI0000130C31	0	getma.org/pdb.php?prot=ODPAT_HUMAN&from=1&to=62&var=F34V	ENST00000295266		ENSG00000163114	8807		41	1.79		HGNC	p.F34V		PDHA2		SNV							ENST00000295266	protein_coding	getma.org/?cm=var&var=hg19,4,96761401,T,G&fts=all		hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27		F/V		G	low	163/1387		getma.org/?cm=msa&ty=f&p=ODPAT_HUMAN&rb=1&re=62&var=F34V	tolerated(0.07)				YES	PDHA2,missense_variant,p.Phe34Val,ENST00000295266,NM_005390.4;							MODERATE	100/1167	F34V	ODPAT_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000295266		CCDS3644.1			1	
RBL2	0	LGGM	GRCh37	16	53487511	53487511	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	52	19	.	.	ENST00000262133.6:c.914T>A	p.Leu305His	p.L305H	ENST00000262133	NM_005611.3	305	cTt/cAt	0	1	1	UPI000013D264	0	NA	ENST00000262133		ENSG00000103479	9894		71	2.74		HGNC	p.L305H		RBL2		SNV							ENST00000262133	protein_coding	getma.org/?cm=var&var=hg19,16,53487511,T,A&fts=all		hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Low_complexity_(Seg):seg		L/H		A	medium	1051/4906		getma.org/?cm=msa&ty=f&p=RBL2_HUMAN&rb=240&re=416&var=L305H	deleterious(0)	J3KSF7_HUMAN			YES	RBL2,missense_variant,p.Leu305His,ENST00000262133,NM_005611.3;RBL2,missense_variant,p.Leu89His,ENST00000544545,;RBL2,missense_variant,p.Leu231His,ENST00000544405,;RBL2,downstream_gene_variant,,ENST00000567964,;RP11-44F14.5,downstream_gene_variant,,ENST00000565073,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;							MODERATE	914/3420	L305H	RBL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262133		CCDS10748.1			1	
KIAA0368	0	LGGM	GRCh37	9	114204618	114204618	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	42	20	.	.	ENST00000259335.4:c.891C>T	p.Ala297=	p.A297=	ENST00000259335	NM_001080398.1	297	gcC/gcT	0	1		UPI0002B83222	0		ENST00000338205		ENSG00000136813	29020		62			HGNC	p.A119A		KIAA0368		SNV							ENST00000338205	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF13001,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Superfamily_domains:SSF48371		A		A		577/7078								KIAA0368,synonymous_variant,p.=,ENST00000259335,NM_001080398.1;KIAA0368,synonymous_variant,p.=,ENST00000338205,;KIAA0368,synonymous_variant,p.=,ENST00000602447,;KIAA0368,synonymous_variant,p.=,ENST00000602978,;							LOW	357/5520		ECM29_HUMAN			Transcript			.	ENSP00000339889					1	
FAM135B	0	LGGM	GRCh37	8	139149494	139149494	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	61	21	.	.	ENST00000395297.1:c.3911A>C	p.Tyr1304Ser	p.Y1304S	ENST00000395297	NM_015912.3	1304	tAt/tCt	0	1	1	UPI000057A0DB	0	NA	ENST00000395297		ENSG00000147724	28029		82	1.335		HGNC	p.Y1304S		FAM135B		SNV							ENST00000395297	protein_coding	getma.org/?cm=var&var=hg19,8,139149494,T,G&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF05057,hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3,Superfamily_domains:SSF53474		Y/S		G	low	4082/6962		getma.org/?cm=msa&ty=f&p=F135B_HUMAN&rb=1135&re=1331&var=Y1304S	deleterious(0)	J3QSR3_HUMAN			YES	FAM135B,missense_variant,p.Tyr1304Ser,ENST00000395297,NM_015912.3;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,3_prime_UTR_variant,,ENST00000276737,;							MODERATE	3911/4221	Y1304S	F135B_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000378710		CCDS6375.2			1	
KCNK9	0	LGGM	GRCh37	8	140630513	140630513	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	65	21	.	.	ENST00000520439.1:c.1113G>T	p.Arg371=	p.R371=	ENST00000520439	NM_001282534.1	371	cgG/cgT	0	1		UPI000000D8AC	0		ENST00000303015		ENSG00000169427	6283		86			HGNC	p.R371R		KCNK9		SNV			1				ENST00000522317	protein_coding			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF75		R		A		1177/1303								KCNK9,synonymous_variant,p.=,ENST00000520439,NM_001282534.1;KCNK9,synonymous_variant,p.=,ENST00000303015,NM_016601.2;KCNK9,upstream_gene_variant,,ENST00000523477,;KCNK9,upstream_gene_variant,,ENST00000519923,;KCNK9,synonymous_variant,p.=,ENST00000522317,;							LOW	1113/1125		KCNK9_HUMAN			Transcript			.	ENSP00000302166		CCDS6377.1			1	
FPR1	0	LGGM	GRCh37	19	52249251	52249251	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	77	22	.	.	ENST00000595042.1:c.997G>A	p.Asp333Asn	p.D333N	ENST00000595042	NM_001193306.1	333	Gac/Aac	0	1		UPI0000050484	0	NA	ENST00000304748		ENSG00000171051	3826		99	1.585		HGNC	p.D333N		FPR1		SNV							ENST00000595042	protein_coding	getma.org/?cm=var&var=hg19,19,52249251,C,T&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,Superfamily_domains:SSF81321		D/N		T	low	1104/1930		getma.org/?cm=msa&ty=f&p=FPR1_HUMAN&rb=302&re=350&var=D333N	tolerated(0.26)	M0R315_HUMAN,M0QZT0_HUMAN				FPR1,missense_variant,p.Asp333Asn,ENST00000595042,NM_001193306.1;FPR1,missense_variant,p.Asp333Asn,ENST00000304748,NM_002029.3;FPR1,downstream_gene_variant,,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;							MODERATE	997/1053	D333N	FPR1_HUMAN			Transcript		benign(0.019)	.	ENSP00000302707		CCDS12839.1			1	
ZFYVE26	0	LGGM	GRCh37	14	68274417	68274417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	46	22	.	.	ENST00000347230.4:c.584A>T	p.Asp195Val	p.D195V	ENST00000347230	NM_015346.3	195	gAc/gTc	0	1	1	UPI00001FD735	0	NA	ENST00000347230		ENSG00000072121	20761		68	1.935		HGNC	p.D195V		ZFYVE26		SNV			1				ENST00000347230	protein_coding	getma.org/?cm=var&var=hg19,14,68274417,T,A&fts=all				D/V		A	medium	723/9675		getma.org/?cm=msa&ty=f&p=ZFY26_HUMAN&rb=88&re=287&var=D195V	deleterious(0)				YES	ZFYVE26,missense_variant,p.Asp195Val,ENST00000347230,NM_015346.3;ZFYVE26,missense_variant,p.Asp195Val,ENST00000555452,;ZFYVE26,missense_variant,p.Asp195Val,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557366,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000557407,;							MODERATE	584/7620	D195V	ZFY26_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000251119		CCDS9788.1			1	
PAPOLB	0	LGGM	GRCh37	7	4900999	4900999	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	87	22	.	.	ENST00000404991.1:c.440G>C	p.Arg147Thr	p.R147T	ENST00000404991	NM_020144.4	147	aGg/aCg	0	1	1	UPI0000131304	0	getma.org/pdb.php?prot=PAPOB_HUMAN&from=72&to=175&var=R147T	ENST00000404991		ENSG00000218823	15970		109	0.96		HGNC	p.R147T		PAPOLB		SNV							ENST00000404991	protein_coding	getma.org/?cm=var&var=hg19,7,4900999,C,G&fts=all		Pfam_domain:PF01909,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF81301		R/T		G	low	627/4262		getma.org/?cm=msa&ty=f&p=PAPOB_HUMAN&rb=72&re=175&var=R147T	deleterious(0.02)	A4D1Z6_HUMAN			YES	PAPOLB,missense_variant,p.Arg147Thr,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,;							MODERATE	440/1911	R147T	PAPOB_HUMAN			Transcript		benign(0.18)	.	ENSP00000384700					1	
DIDO1	0	LGGM	GRCh37	20	61510981	61510981	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	78	22	.	.	ENST00000266070.4:c.6327G>A	p.Ala2109=	p.A2109=	ENST00000266070	NM_033081.2	2109	gcG/gcA	0	1	1	UPI0000206380	0		ENST00000266070		ENSG00000101191	2680		100			HGNC	p.A2109A		DIDO1		SNV							ENST00000266070	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914		A		T		6653/8544							YES	DIDO1,synonymous_variant,p.=,ENST00000266070,NM_033081.2;DIDO1,synonymous_variant,p.=,ENST00000395343,NM_001193369.1;							LOW	6327/6723		DIDO1_HUMAN			Transcript			.	ENSP00000266070		CCDS33506.1			1	
OLFML2A	0	LGGM	GRCh37	9	127549253	127549253	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	55	23	.	.	ENST00000373580.3:c.91-1G>T		p.X31_splice	ENST00000373580	NM_182487.2			0	1	1	UPI00001B6546	0		ENST00000373580		ENSG00000185585	27270		78			HGNC	-		OLFML2A		SNV							ENST00000331715	protein_coding							T		-/6425							YES	OLFML2A,splice_acceptor_variant,,ENST00000373580,NM_182487.2;OLFML2A,splice_acceptor_variant,,ENST00000331715,;							HIGH	91/1959		OLM2A_HUMAN			Transcript			.	ENSP00000362682		CCDS6857.2			1	
SPEN	0	LGGM	GRCh37	1	16259490	16259490	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	79	26	.	.	ENST00000375759.3:c.6755G>T	p.Gly2252Val	p.G2252V	ENST00000375759	NM_015001.2	2252	gGt/gTt	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		105	0		HGNC	p.G2252V		SPEN		SNV							ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16259490,G,T&fts=all		hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189		G/V		T	neutral	6959/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=2201&re=2707&var=G2252V					YES	SPEN,missense_variant,p.Gly2252Val,ENST00000375759,NM_015001.2;							MODERATE	6755/10995	G2252V	MINT_HUMAN			Transcript		benign(0.001)	.	ENSP00000364912		CCDS164.1			1	
TTN	0	LGGM	GRCh37	2	179455917	179455917	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	157	29	.	.	ENST00000589042.1:c.60535A>T	p.Ile20179Phe	p.I20179F	ENST00000589042	NM_001267550.1	20179	Att/Ttt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=18532&to=18616&var=I18538F	ENST00000591111		ENSG00000155657	12403		186	1.795		HGNC	p.I17611F		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179455917,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/F		A	low	55837/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=18532&re=18616&var=I18538F		C9JQJ2_HUMAN				TTN,missense_variant,p.Ile20179Phe,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile18538Phe,ENST00000591111,;TTN,missense_variant,p.Ile17611Phe,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile11306Phe,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile11239Phe,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile11114Phe,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000586452,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000590743,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000589234,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;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,;							MODERATE	55612/103053	I18538F	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
OR4F6	0	LGGM	GRCh37	15	102346284	102346284	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	124	30	.	.	ENST00000328882.4:c.362A>C	p.Asp121Ala	p.D121A	ENST00000328882	NM_001005326.1	121	gAc/gCc	0	1	1	UPI0000041BF4	0	getma.org/pdb.php?prot=OR4F6_HUMAN&from=1&to=138&var=D121A	ENST00000328882		ENSG00000184140	15372		154	4.65		HGNC	p.D121A		OR4F6		SNV							ENST00000328882	protein_coding	getma.org/?cm=var&var=hg19,15,102346284,A,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF199,Superfamily_domains:SSF81321		D/A		C	high	383/975		getma.org/?cm=msa&ty=f&p=OR4F6_HUMAN&rb=1&re=138&var=D121A	deleterious_low_confidence(0)				YES	OR4F6,missense_variant,p.Asp121Ala,ENST00000328882,NM_001005326.1;							MODERATE	362/939	D121A	OR4F6_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000327525		CCDS32341.1			1	
ABHD1	0	LGGM	GRCh37	2	27353271	27353271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	55	31	.	.	ENST00000316470.4:c.993C>A	p.Phe331Leu	p.F331L	ENST00000316470	NM_032604.3	331	ttC/ttA	0	1	1	UPI000013FDC4	0	NA	ENST00000316470		ENSG00000143994	17553		86	2.64		HGNC	p.F331L		ABHD1		SNV							ENST00000316470	protein_coding	getma.org/?cm=var&var=hg19,2,27353271,C,A&fts=all		hmmpanther:PTHR10794:SF41,hmmpanther:PTHR10794,Gene3D:3.40.50.1820,Pfam_domain:PF12697,PIRSF_domain:PIRSF005211,Superfamily_domains:SSF53474		F/L		A	medium	1107/1400		getma.org/?cm=msa&ty=f&p=ABHD1_HUMAN&rb=125&re=365&var=F331L	deleterious(0)				YES	ABHD1,missense_variant,p.Phe331Leu,ENST00000316470,NM_032604.3;PREB,downstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,downstream_gene_variant,,ENST00000406567,;PREB,downstream_gene_variant,,ENST00000456259,;ABHD1,downstream_gene_variant,,ENST00000416071,;PREB,downstream_gene_variant,,ENST00000430533,;PREB,downstream_gene_variant,,ENST00000416802,;ABHD1,3_prime_UTR_variant,,ENST00000448950,;ABHD1,3_prime_UTR_variant,,ENST00000420647,;ABHD1,non_coding_transcript_exon_variant,,ENST00000496739,;PREB,downstream_gene_variant,,ENST00000468045,;PREB,downstream_gene_variant,,ENST00000444452,;PREB,downstream_gene_variant,,ENST00000474802,;ABHD1,downstream_gene_variant,,ENST00000489120,;PREB,downstream_gene_variant,,ENST00000441451,;							MODERATE	993/1218	F331L	ABHD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000326491		CCDS1736.1			1	
HDLBP	0	LGGM	GRCh37	2	242178063	242178063	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H080360	H080360N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	69	33	.	.	ENST00000391975.1:c.2749+1G>C		p.X917_splice	ENST00000391975	NM_203346.3			0	1	1	UPI00001AEF85	0		ENST00000391975		ENSG00000115677	4857		102			HGNC	-		HDLBP		SNV							ENST00000391975	protein_coding							G		-/6372				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			YES	HDLBP,splice_donor_variant,,ENST00000391975,NM_203346.3;HDLBP,splice_donor_variant,,ENST00000310931,NM_005336.4;HDLBP,splice_donor_variant,,ENST00000391976,;HDLBP,splice_donor_variant,,ENST00000427183,NM_001243900.1;HDLBP,splice_donor_variant,,ENST00000373292,;HDLBP,downstream_gene_variant,,ENST00000427487,;HDLBP,downstream_gene_variant,,ENST00000452931,;HDLBP,splice_donor_variant,,ENST00000483086,;HDLBP,upstream_gene_variant,,ENST00000470482,;HDLBP,downstream_gene_variant,,ENST00000471294,;HDLBP,splice_donor_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479169,;HDLBP,upstream_gene_variant,,ENST00000479894,;HDLBP,downstream_gene_variant,,ENST00000459788,;							HIGH	2749/3807		VIGLN_HUMAN			Transcript			.	ENSP00000375836		CCDS2547.1			1	
ATOSA	0	LGGM	GRCh37	15	52901069	52901069	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	85	33	.	.	ENST00000261844.7:c.2042A>G	p.Asn681Ser	p.N681S	ENST00000261844	NM_019600.2	681	aAt/aGt	0	1	1	UPI00001C1F8D	0	NA	ENST00000261844		ENSG00000047346	25609		118	1.39		HGNC	p.N681S		FAM214A		SNV							ENST00000534964	protein_coding	getma.org/?cm=var&var=hg19,15,52901069,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF13		N/S		C	low	2195/4217		getma.org/?cm=msa&ty=f&p=F214A_HUMAN&rb=601&re=800&var=N681S	tolerated(0.75)	Q6DKH7_HUMAN,Q658Z0_HUMAN,H3BUJ2_HUMAN,H3BU00_HUMAN,H3BTD0_HUMAN,H3BSJ2_HUMAN,H3BQ29_HUMAN,H0Y3Q9_HUMAN			YES	FAM214A,missense_variant,p.Asn681Ser,ENST00000261844,NM_019600.2;FAM214A,missense_variant,p.Asn688Ser,ENST00000546305,NM_001286495.1;FAM214A,missense_variant,p.Asn593Ser,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,missense_variant,p.Asn681Ser,ENST00000534964,;FAM214A,upstream_gene_variant,,ENST00000566948,;FAM214A,upstream_gene_variant,,ENST00000568668,;FAM214A,upstream_gene_variant,,ENST00000570204,;							MODERATE	2042/3231	N681S	F214A_HUMAN			Transcript		benign(0.001)	.	ENSP00000261844		CCDS45263.1			1	
ROBO1	0	LGGM	GRCh37	3	78701048	78701048	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080360	H080360N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	118	36	.	.	ENST00000464233.1:c.2646C>T	p.Asp882=	p.D882=	ENST00000464233	NM_002941.3	882	gaC/gaT	0	1	1	UPI00000713D9	0		ENST00000464233		ENSG00000169855	10249		154			HGNC	p.D882D		ROBO1		SNV							ENST00000464233	protein_coding			hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489		D		A		2760/6742							YES	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,,ENST00000498428,;							LOW	2646/4956		ROBO1_HUMAN			Transcript			.	ENSP00000420321		CCDS54611.1			1	
FAT3	0	LGGM	GRCh37	11	92531819	92531819	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080360	H080360N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	105	37	.	.	ENST00000298047.6:c.5640A>C	p.Pro1880=	p.P1880=	ENST00000298047		1880	ccA/ccC	0	1	1	UPI000050B6C6	0		ENST00000298047		ENSG00000165323	23112		142			HGNC	p.P1730P		FAT3		SNV							ENST00000525166	protein_coding			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		P		C		5657/19126				E9PQ73_HUMAN			YES	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;							LOW	5640/13770		FAT3_HUMAN			Transcript			.	ENSP00000298047					1	
PLA2G4A	0	LGGM	GRCh37	1	186862260	186862260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080360	H080360N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080360N.bam, H080360T.bam	Illumina HiSeq	113	38	.	.	ENST00000367466.3:c.233T>C	p.Ile78Thr	p.I78T	ENST00000367466	NM_024420.2	78	aTt/aCt	0	1	1	UPI0000203D76	0	getma.org/pdb.php?prot=PA24A_HUMAN&from=20&to=106&var=I78T	ENST00000367466		ENSG00000116711	9035		151	1.025		HGNC	p.I78T		PLA2G4A		SNV							ENST00000367466	protein_coding	getma.org/?cm=var&var=hg19,1,186862260,T,C&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00239,Superfamily_domains:SSF49562		I/T		C	low	385/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=20&re=106&var=I78T	tolerated(0.15)				YES	PLA2G4A,missense_variant,p.Ile78Thr,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Ile78Thr,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;							MODERATE	233/2250	I78T	PA24A_HUMAN			Transcript		possibly_damaging(0.455)	.	ENSP00000356436		CCDS1372.1			1	
TMEM154	0	LGGM	GRCh37	4	153601024	153601024	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	0	2	.	.	ENST00000304385.3:c.62G>T	p.Arg21Leu	p.R21L	ENST00000304385	NM_152680.2	21	cGg/cTg	0	1	1	UPI000006FAE5	0	NA	ENST00000304385		ENSG00000170006	26489		2	0		HGNC	p.R21L	rs779861883	TMEM154		SNV							ENST00000304385	protein_coding	getma.org/?cm=var&var=hg19,4,153601024,C,A&fts=all		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM		R/L		A	neutral	294/10698	2.50E-05	getma.org/?cm=msa&ty=f&p=TM154_HUMAN&rb=1&re=182&var=R21L	tolerated(0.09)				YES	TMEM154,missense_variant,p.Arg21Leu,ENST00000304385,NM_152680.2;TMEM154,missense_variant,p.Arg21Leu,ENST00000504064,;							MODERATE	62/552	R21L	TM154_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000302144	8.26E-06	CCDS3779.1			1	
CCDC74B	0	LGGM	GRCh37	2	130900309	130900309	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	3	2	.	.	ENST00000310463.6:c.296-355G>T		*99*	ENST00000310463	NM_207310.2			0	1	1	UPI000006D822	0		ENST00000310463		ENSG00000152076	25267		5			HGNC	p.G83C	rs534205746	CCDC74B		SNV							ENST00000392984	protein_coding							A		-/1549							YES	CCDC74B,missense_variant,p.Gly83Cys,ENST00000392984,;CCDC74B,intron_variant,,ENST00000310463,NM_207310.2;CCDC74B,intron_variant,,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,intron_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,intron_variant,,ENST00000423263,;CCDC74B,intron_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;							MODIFIER	-/1143		CC74B_HUMAN			Transcript			.	ENSP00000308873		CCDS2155.1			1	
CHMP4C	0	LGGM	GRCh37	8	82644895	82644895	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	1	2	.	.	ENST00000297265.4:c.34G>T	p.Gly12Cys	p.G12C	ENST00000297265	NM_152284.3	12	Ggc/Tgc	0	1	1	UPI000005032A	0	NA	ENST00000297265		ENSG00000164695	30599		3	2.255		HGNC	p.G12C		CHMP4C		SNV							ENST00000297265	protein_coding	getma.org/?cm=var&var=hg19,8,82644895,G,T&fts=all		hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF13,Low_complexity_(Seg):seg		G/C		T	medium	227/1866		getma.org/?cm=msa&ty=f&p=CHM4C_HUMAN&rb=1&re=53&var=G12C	deleterious(0.01)				YES	CHMP4C,missense_variant,p.Gly12Cys,ENST00000297265,NM_152284.3;ZFAND1,intron_variant,,ENST00000523361,;ZFAND1,upstream_gene_variant,,ENST00000520635,;ZFAND1,upstream_gene_variant,,ENST00000520604,;ZFAND1,upstream_gene_variant,,ENST00000521742,;ZFAND1,upstream_gene_variant,,ENST00000520941,;ZFAND1,intron_variant,,ENST00000517353,;ZFAND1,upstream_gene_variant,,ENST00000521885,;							MODERATE	34/702	G12C	CHM4C_HUMAN			Transcript		unknown(0)	.	ENSP00000297265		CCDS6233.1			1	
WISP3	0	LGGM	GRCh37	6	112381239	112381239	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	2	.	.	ENST00000361714.1:c.103-955G>T		*35*	ENST00000361714				0	1		UPI000004E930	0		ENST00000230529		ENSG00000112761	12771		8			HGNC	p.V8V		WISP3		SNV			1				ENST00000368663	protein_coding							T		-/1235				Q3T1A9_HUMAN				WISP3,synonymous_variant,p.=,ENST00000368663,;WISP3,intron_variant,,ENST00000361714,;WISP3,intron_variant,,ENST00000368666,NM_198239.1;WISP3,intron_variant,,ENST00000604763,;WISP3,intron_variant,,ENST00000230529,NM_003880.3;WISP3,upstream_gene_variant,,ENST00000409166,;WISP3,intron_variant,,ENST00000368664,;WISP3,intron_variant,,ENST00000454589,;							MODIFIER	-/1065		WISP3_HUMAN			Transcript			.	ENSP00000230529		CCDS5098.1			1	
C1orf106	0	LGGM	GRCh37	1	200878066	200878066	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	2	.	.	ENST00000413687.2:c.783C>G	p.Ser261=	p.S261=	ENST00000413687	NM_001142569.2	261	tcC/tcG	0	1		UPI000013E26E	0		ENST00000367342		ENSG00000163362	25599		18			HGNC	p.S261S		C1orf106		SNV							ENST00000413687	protein_coding			hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4,Low_complexity_(Seg):seg		S		G		1238/4298				E9PK29_HUMAN,C9JAT8_HUMAN				C1orf106,splice_region_variant,p.=,ENST00000367342,NM_018265.3;C1orf106,splice_region_variant,p.=,ENST00000413687,NM_001142569.2;C1orf106,splice_region_variant,,ENST00000526172,;C1orf106,upstream_gene_variant,,ENST00000465162,;C1orf106,downstream_gene_variant,,ENST00000531649,;							LOW	1038/1992		CA106_HUMAN			Transcript			.	ENSP00000356311					1	
INPP5E	0	LGGM	GRCh37	9	139329210	139329210	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	0	2	.	.	ENST00000371712.3:c.918G>T	p.Trp306Cys	p.W306C	ENST00000371712	NM_019892.4	306	tgG/tgT	0	1	1	UPI000014053C	0	getma.org/pdb.php?prot=INP5E_HUMAN&from=304&to=584&var=W306C	ENST00000371712		ENSG00000148384	21474		2	3.86		HGNC	p.W306C		INPP5E		SNV			1				ENST00000371712	protein_coding	getma.org/?cm=var&var=hg19,9,139329210,C,A&fts=all		Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF114,SMART_domains:SM00128,Superfamily_domains:SSF56219		W/C		A	high	1321/3394		getma.org/?cm=msa&ty=f&p=INP5E_HUMAN&rb=304&re=584&var=W306C	deleterious(0)	Q2YD81_HUMAN			YES	INPP5E,missense_variant,p.Trp306Cys,ENST00000371712,NM_019892.4;							MODERATE	918/1935	W306C	INP5E_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360777		CCDS7000.1			1	
ACRBP	0	LGGM	GRCh37	12	6748204	6748204	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	3	.	.	ENST00000229243.2:c.1426-1G>T		p.X476_splice	ENST00000229243	NM_032489.2			0	1	1	UPI000006CCAA	0		ENST00000229243		ENSG00000111644	17195		24			HGNC	-		ACRBP		SNV							ENST00000229243	protein_coding							A		-/1933							YES	ACRBP,splice_acceptor_variant,,ENST00000229243,NM_032489.2;ACRBP,splice_acceptor_variant,,ENST00000414226,;LPAR5,upstream_gene_variant,,ENST00000329858,NM_020400.5;ACRBP,splice_acceptor_variant,,ENST00000542357,;LPAR5,upstream_gene_variant,,ENST00000540335,;ACRBP,upstream_gene_variant,,ENST00000540513,;							HIGH	1426/1632		ACRBP_HUMAN			Transcript			.	ENSP00000229243		CCDS8554.1			1	
TUBE1	0	LGGM	GRCh37	6	112396054	112396054	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	31	3	.	.	ENST00000368662.5:c.813-1G>T		p.X271_splice	ENST00000368662	NM_016262.4			0	1	1	UPI0000136A4E	0		ENST00000368662		ENSG00000074935	20775		34			HGNC	-		TUBE1		SNV							ENST00000368662	protein_coding							A		-/2142							YES	TUBE1,splice_acceptor_variant,,ENST00000368662,NM_016262.4;WISP3,downstream_gene_variant,,ENST00000361714,;TUBE1,splice_acceptor_variant,,ENST00000604814,;TUBE1,downstream_gene_variant,,ENST00000441191,;TUBE1,splice_acceptor_variant,,ENST00000605457,;TUBE1,splice_acceptor_variant,,ENST00000604743,;TUBE1,non_coding_transcript_exon_variant,,ENST00000603651,;TUBE1,downstream_gene_variant,,ENST00000604689,;TUBE1,downstream_gene_variant,,ENST00000368657,;TUBE1,downstream_gene_variant,,ENST00000604967,;							HIGH	813/1428		TBE_HUMAN			Transcript			.	ENSP00000357651		CCDS5100.1			1	
CWC22	0	LGGM	GRCh37	2	180817326	180817326	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	3	.	.	ENST00000410053.3:c.1690-1G>T		p.X564_splice	ENST00000410053	NM_020943.2			0	1	1	UPI00001C1DAE	0		ENST00000410053		ENSG00000163510	29322		24			HGNC	-		CWC22		SNV							ENST00000410053	protein_coding							A		-/3280				B7WP74_HUMAN			YES	CWC22,splice_acceptor_variant,,ENST00000410053,NM_020943.2;CWC22,splice_acceptor_variant,,ENST00000295749,;CWC22,splice_acceptor_variant,,ENST00000404136,;							HIGH	1690/2727		CWC22_HUMAN			Transcript			.	ENSP00000387006		CCDS46465.1			1	
KANSL3	0	LGGM	GRCh37	2	97267418	97267418	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000431828.1:c.2578G>T	p.Glu860Ter	p.E860*	ENST00000431828		860	Gag/Tag	0	1	1	UPI0000207C82	0	NA	ENST00000431828		ENSG00000114982	25473		17	0		HGNC	p.E773X		KANSL3		SNV							ENST00000599854	protein_coding	getma.org/?cm=var&var=hg19,2,97267418,C,A&fts=all		hmmpanther:PTHR13136,Low_complexity_(Seg):seg		E/*		A	NA	2655/5153		NA		F8WEN2_HUMAN,B4E1W4_HUMAN			YES	KANSL3,stop_gained,p.Glu773Ter,ENST00000599854,NM_001115016.2;KANSL3,stop_gained,p.Glu860Ter,ENST00000431828,;KANSL3,stop_gained,p.Glu680Ter,ENST00000440133,;KANSL3,intron_variant,,ENST00000441706,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,upstream_gene_variant,,ENST00000481986,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,non_coding_transcript_exon_variant,,ENST00000484020,;KANSL3,downstream_gene_variant,,ENST00000476534,;							HIGH	2578/2637	E886*	KANL3_HUMAN			Transcript			.	ENSP00000396749		CCDS46361.1			1	
LGALS4	0	LGGM	GRCh37	19	39293029	39293029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	3	.	.	ENST00000307751.4:c.586G>T	p.Gly196Trp	p.G196W	ENST00000307751	NM_006149.3	196	Ggg/Tgg	0	1	1	UPI0000001651	0	getma.org/pdb.php?prot=LEG4_HUMAN&from=193&to=323&var=G196W	ENST00000307751		ENSG00000171747	6565		43	3.025		HGNC	p.G196W		LGALS4		SNV							ENST00000307751	protein_coding	getma.org/?cm=var&var=hg19,19,39293029,C,A&fts=all		PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF32,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00276,Superfamily_domains:SSF49899		G/W		A	medium	1064/1535		getma.org/?cm=msa&ty=f&p=LEG4_HUMAN&rb=193&re=323&var=G196W	deleterious(0)	Q6FHZ4_HUMAN,M0R349_HUMAN			YES	LGALS4,missense_variant,p.Gly196Trp,ENST00000307751,NM_006149.3;LGALS4,missense_variant,p.Gly91Trp,ENST00000600070,;LGALS4,downstream_gene_variant,,ENST00000597803,;LGALS4,3_prime_UTR_variant,,ENST00000595291,;LGALS4,non_coding_transcript_exon_variant,,ENST00000597153,;LGALS4,non_coding_transcript_exon_variant,,ENST00000595342,;LGALS4,downstream_gene_variant,,ENST00000595278,;LGALS4,downstream_gene_variant,,ENST00000596628,;							MODERATE	586/972	G196W	LEG4_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000302100		CCDS12521.1			1	
TET2	0	LGGM	GRCh37	4	106155629	106155629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	3	.	.	ENST00000380013.4:c.530C>A	p.Pro177Gln	p.P177Q	ENST00000380013	NM_001127208.2	177	cCa/cAa	0	1		UPI00001D75E4	0	NA	ENST00000380013		ENSG00000168769	25941		18	0.805		HGNC	p.P177Q		TET2		SNV			1				ENST00000413648	protein_coding	getma.org/?cm=var&var=hg19,4,106155629,C,A&fts=all		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3		P/Q		A	low	916/9679		getma.org/?cm=msa&ty=f&p=TET2_HUMAN&rb=1&re=200&var=P177Q	deleterious(0.03)	E7EPB1_HUMAN,D6RE87_HUMAN				TET2,missense_variant,p.Pro177Gln,ENST00000540549,;TET2,missense_variant,p.Pro198Gln,ENST00000513237,;TET2,missense_variant,p.Pro177Gln,ENST00000545826,;TET2,missense_variant,p.Pro177Gln,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Pro177Gln,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Pro177Gln,ENST00000394764,;TET2,missense_variant,p.Pro177Gln,ENST00000413648,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,missense_variant,p.Pro177Gln,ENST00000265149,;							MODERATE	530/6009	P177Q	TET2_HUMAN			Transcript		benign(0.049)	.	ENSP00000369351		CCDS47120.1			1	
LENG8	0	LGGM	GRCh37	19	54965682	54965682	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	3	.	.	ENST00000326764.5:c.500C>A	p.Pro167His	p.P167H	ENST00000326764	NM_052925.2	167	cCt/cAt	0	1	1	UPI0000074196	0	NA	ENST00000326764		ENSG00000167615	15500		9	1.7		HGNC	p.P167H		LENG8		SNV							ENST00000326764	protein_coding	getma.org/?cm=var&var=hg19,19,54965682,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436		P/H		A	low	979/3991		getma.org/?cm=msa&ty=f&p=LENG8_HUMAN&rb=1&re=390&var=P130H	deleterious_low_confidence(0.01)	E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN			YES	LENG8,missense_variant,p.Pro167His,ENST00000431846,;LENG8,missense_variant,p.Pro130His,ENST00000376526,;LENG8,missense_variant,p.Pro167His,ENST00000326764,NM_052925.2;LENG8,missense_variant,p.Pro167His,ENST00000439657,;LENG8,intron_variant,,ENST00000376514,;LENG8,upstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000443957,;LENG8,downstream_gene_variant,,ENST00000436479,;LENG8,downstream_gene_variant,,ENST00000462541,;							MODERATE	500/2403	P130H	LENG8_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000318374		CCDS12894.1			1	
LILRA2	0	LGGM	GRCh37	19	55086935	55086935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	35	3	.	.	ENST00000251377.3:c.868G>T	p.Gly290Trp	p.G290W	ENST00000251377		290	Ggg/Tgg	0	1	1	UPI0000034C01	0	getma.org/pdb.php?prot=LIRA2_HUMAN&from=223&to=316&var=G290W	ENST00000251377		ENSG00000239998	6603		38	4.11		HGNC	p.G290W	COSM567698	LILRA2		SNV						1	ENST00000439534	protein_coding	getma.org/?cm=var&var=hg19,19,55086935,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF90,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/W		T	high	1001/1799		getma.org/?cm=msa&ty=f&p=LIRA2_HUMAN&rb=223&re=316&var=G290W	deleterious(0)	E9PDF4_HUMAN			YES	LILRA2,missense_variant,p.Gly290Trp,ENST00000251377,;LILRA2,missense_variant,p.Gly290Trp,ENST00000391738,NM_001130917.1;LILRA2,missense_variant,p.Gly290Trp,ENST00000251376,NM_006866.2;LILRA2,missense_variant,p.Gly290Trp,ENST00000439534,;LILRA2,missense_variant,p.Gly278Trp,ENST00000391737,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRA2,downstream_gene_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;					1		MODERATE	868/1452	G290W	LIRA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251377		CCDS46179.1			1	
IRF4	0	LGGM	GRCh37	6	398883	398883	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	3	.	.	ENST00000380956.4:c.693C>A	p.Pro231=	p.P231=	ENST00000380956	NM_001195286.1	231	ccC/ccA	0	1	1	UPI000012D88B	0		ENST00000380956		ENSG00000137265	6119		18			HGNC	p.P231P		IRF4		SNV			1				ENST00000493114	protein_coding			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF6		P		A		819/5331							YES	IRF4,synonymous_variant,p.=,ENST00000380956,NM_001195286.1,NM_002460.3;IRF4,downstream_gene_variant,,ENST00000495137,;IRF4,downstream_gene_variant,,ENST00000468485,;IRF4,downstream_gene_variant,,ENST00000469834,;IRF4,synonymous_variant,p.=,ENST00000493114,;							LOW	693/1356		IRF4_HUMAN			Transcript			.	ENSP00000370343		CCDS4469.1			1	
C6orf118	0	LGGM	GRCh37	6	165715592	165715592	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	28	3	.	.	ENST00000230301.8:c.219G>T	p.Pro73=	p.P73=	ENST00000230301	NM_144980.3	73	ccG/ccT	0	1	1	UPI0000367401	0		ENST00000230301		ENSG00000112539	21233		31			HGNC	p.P73P		C6orf118		SNV							ENST00000230301	protein_coding					P		A		240/1812							YES	C6orf118,synonymous_variant,p.=,ENST00000230301,NM_144980.3;C6orf118,5_prime_UTR_variant,,ENST00000543069,;							LOW	219/1410		CF118_HUMAN			Transcript			.	ENSP00000230301		CCDS5288.1			1	
GLI3	0	LGGM	GRCh37	7	42088263	42088263	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	35	3	.	.	ENST00000395925.3:c.506C>T	p.Pro169Leu	p.P169L	ENST00000395925	NM_000168.5	169	cCg/cTg	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		38	0.69		HGNC	p.P169L	COSM33095	GLI3		SNV			1			1	ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42088263,G,A&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		P/L		A	neutral	591/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=120&re=469&var=P169L	deleterious(0)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Pro169Leu,ENST00000395925,NM_000168.5;GLI3,missense_variant,p.Pro169Leu,ENST00000448703,;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;					1		MODERATE	506/4743	P169L	GLI3_HUMAN			Transcript		benign(0.054)	.	ENSP00000379258		CCDS5465.1			1	
SLC29A4	0	LGGM	GRCh37	7	5331393	5331393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	3	.	.	ENST00000396872.3:c.485G>T	p.Arg162Leu	p.R162L	ENST00000396872		162	cGg/cTg	0	1		UPI0000051F6F	0	NA	ENST00000297195		ENSG00000164638	23097		33	1.79		HGNC	p.R162L		SLC29A4		SNV							ENST00000434816	protein_coding	getma.org/?cm=var&var=hg19,7,5331393,G,T&fts=all		hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF4,Superfamily_domains:SSF103473		R/L		T	low	610/2839		getma.org/?cm=msa&ty=f&p=S29A4_HUMAN&rb=1&re=169&var=R162L	tolerated(0.38)	C9IYM7_HUMAN				SLC29A4,missense_variant,p.Arg162Leu,ENST00000396872,;SLC29A4,missense_variant,p.Arg162Leu,ENST00000297195,NM_001040661.1,NM_153247.2;SLC29A4,missense_variant,p.Gly150Trp,ENST00000406453,;SLC29A4,missense_variant,p.Arg162Leu,ENST00000434816,;SLC29A4,missense_variant,p.Gly150Trp,ENST00000444741,;							MODERATE	485/1593	R162L	S29A4_HUMAN			Transcript		benign(0.008)	.	ENSP00000297195		CCDS5340.1			1	
SH3BP2	0	LGGM	GRCh37	4	2834080	2834080	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	17	3	.	.	ENST00000503393.2:c.1600C>A	p.Arg534=	p.R534=	ENST00000503393	NM_001145856.1	534	Cgg/Agg	0	1		UPI0000124ED7	0		ENST00000356331		ENSG00000087266	10825		20			HGNC	p.R534R		SH3BP2		SNV			1				ENST00000503393	protein_coding			Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR15126,hmmpanther:PTHR15126:SF4,SMART_domains:SM00252,Superfamily_domains:SSF55550		R		A		1690/9211				D6RER9_HUMAN,D6RC64_HUMAN,D6RBL6_HUMAN,D6RAB4_HUMAN,D6R995_HUMAN				SH3BP2,synonymous_variant,p.=,ENST00000356331,NM_003023.4;SH3BP2,synonymous_variant,p.=,ENST00000442312,NM_001145855.1;SH3BP2,synonymous_variant,p.=,ENST00000503393,NM_001145856.1;SH3BP2,synonymous_variant,p.=,ENST00000511747,;SH3BP2,synonymous_variant,p.=,ENST00000435136,;SH3BP2,synonymous_variant,p.=,ENST00000452765,NM_001122681.1;SH3BP2,downstream_gene_variant,,ENST00000508385,;SH3BP2,downstream_gene_variant,,ENST00000512014,;SH3BP2,downstream_gene_variant,,ENST00000515183,;SH3BP2,missense_variant,p.Pro162Gln,ENST00000513069,;SH3BP2,3_prime_UTR_variant,,ENST00000515737,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000510204,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000515802,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000504450,;SH3BP2,downstream_gene_variant,,ENST00000505941,;							LOW	1429/1686		3BP2_HUMAN			Transcript			.	ENSP00000348685		CCDS33944.1			1	
COL3A1	0	LGGM	GRCh37	2	189860904	189860904	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	46	3	.	.	ENST00000304636.3:c.1662C>A	p.Pro554=	p.P554=	ENST00000304636	NM_000090.3	554	ccC/ccA	0	1	1	UPI0000456EBA	0		ENST00000304636		ENSG00000168542	2201		49			HGNC	p.P554P		COL3A1		SNV			1				ENST00000304636	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415		P		A		1832/5543				Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,splice_region_variant,p.=,ENST00000304636,NM_000090.3;COL3A1,splice_region_variant,p.=,ENST00000317840,;COL3A1,downstream_gene_variant,,ENST00000450867,;							LOW	1662/4401		CO3A1_HUMAN			Transcript			.	ENSP00000304408		CCDS2297.1			1	
HMHA1	0	LGGM	GRCh37	19	1073172	1073172	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	3	.	.	ENST00000539243.2:c.494G>T	p.Arg165Leu	p.R165L	ENST00000539243	NM_001258328.1	165	cGg/cTg	0	1		UPI000008AF58	0	NA	ENST00000313093		ENSG00000180448	17102		32	-1.995		HGNC	p.G30W		HMHA1		SNV							ENST00000592335	protein_coding	getma.org/?cm=var&var=hg19,19,1073172,G,T&fts=all		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF18		R/L		T	neutral	677/4264		getma.org/?cm=msa&ty=f&p=HMHA1_HUMAN&rb=1&re=709&var=R149L	tolerated(1)	O78181_HUMAN				HMHA1,missense_variant,p.Arg149Leu,ENST00000313093,NM_012292.3;HMHA1,missense_variant,p.Arg176Leu,ENST00000590214,;HMHA1,missense_variant,p.Arg153Leu,ENST00000586866,;HMHA1,missense_variant,p.Arg165Leu,ENST00000539243,NM_001258328.1;HMHA1,missense_variant,p.Arg32Leu,ENST00000543365,NM_001282335.1;HMHA1,missense_variant,p.Arg154Leu,ENST00000587186,;HMHA1,missense_variant,p.Gly30Trp,ENST00000592335,;HMHA1,5_prime_UTR_variant,,ENST00000536472,;HMHA1,upstream_gene_variant,,ENST00000590577,NM_001282334.1;HMHA1,missense_variant,p.Gly39Trp,ENST00000587602,;HMHA1,intron_variant,,ENST00000591293,;HMHA1,upstream_gene_variant,,ENST00000586033,;							MODERATE	446/3411	R149L	HMHA1_HUMAN			Transcript		benign(0)	.	ENSP00000316772		CCDS32863.1			1	
PRKDC	0	LGGM	GRCh37	8	48748995	48748995	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	32	3	.	.	ENST00000314191.2:c.7852C>A	p.Arg2618Ser	p.R2618S	ENST00000314191	NM_006904.6	2618	Cgt/Agt	0	1	1	UPI000045790C	0	NA	ENST00000314191		ENSG00000253729	9413		35	0.85		HGNC	p.R2618S		PRKDC		SNV			1				ENST00000338368	protein_coding	getma.org/?cm=var&var=hg19,8,48748995,G,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54		R/S		T	low	7909/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=2611&re=2810&var=R2619S		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Arg2618Ser,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Arg2618Ser,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;							MODERATE	7852/12384	R2619S	PRKDC_HUMAN			Transcript		benign(0.025)	.	ENSP00000313420					1	
PKD1L2	0	LGGM	GRCh37	16	81232612	81232612	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	13	3	.	.	ENST00000337114.4:c.1198C>A	p.Gln400Lys	p.Q400K	ENST00000337114	NM_001076780.1	400	Caa/Aaa	0	1	1	UPI0000E4C8FA	0		ENST00000337114		ENSG00000166473	21715		16			HGNC	p.Q400K		PKD1L2		SNV							ENST00000599697	protein_coding			hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877		Q/K		T		1198/3427			tolerated(0.89)	Q6AI51_HUMAN				PKD1L2,missense_variant,p.Gln400Lys,ENST00000337114,NM_001076780.1;PKD1L2,upstream_gene_variant,,ENST00000526632,;PKD1L2,missense_variant,p.Gln400Lys,ENST00000525539,NM_052892.3;							MODERATE	1198/2976		PK1L2_HUMAN			Transcript		benign(0.407)	.	ENSP00000337397					1	
GJA9	0	LGGM	GRCh37	1	39340467	39340467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	3	.	.	ENST00000357771.3:c.1304G>T	p.Arg435Leu	p.R435L	ENST00000357771	NM_030772.4	435	cGg/cTg	0	1	1	UPI000006E09A	0	NA	ENST00000357771		ENSG00000131233	19155		42	0.55		HGNC	p.R435L		GJA9		SNV							ENST00000357771	protein_coding	getma.org/?cm=var&var=hg19,1,39340467,C,A&fts=all				R/L		A	neutral	1585/2313		getma.org/?cm=msa&ty=f&p=CXA9_HUMAN&rb=402&re=513&var=R435L	tolerated(0.34)				YES	GJA9,missense_variant,p.Arg435Leu,ENST00000454994,;GJA9,missense_variant,p.Arg435Leu,ENST00000357771,NM_030772.4;GJA9,missense_variant,p.Arg435Leu,ENST00000360786,;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,non_coding_transcript_exon_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000462027,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000494695,;MYCBP,upstream_gene_variant,,ENST00000465771,;							MODERATE	1304/1548	R435L	CXA9_HUMAN			Transcript		benign(0.008)	.	ENSP00000350415		CCDS432.1			1	
ASPDH	0	LGGM	GRCh37	19	51016589	51016589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	3	.	.	ENST00000389208.4:c.137G>T	p.Arg46Leu	p.R46L	ENST00000389208	NM_001114598.1	46	cGa/cTa	0	1	1	UPI00015B3C66	0	NA	ENST00000389208		ENSG00000204653	33856		19	1.67		HGNC	p.R46L		ASPDH		SNV							ENST00000389208	protein_coding	getma.org/?cm=var&var=hg19,19,51016589,C,A&fts=all		Superfamily_domains:SSF51735,PIRSF_domain:PIRSF005227,Gene3D:3.40.50.720,Pfam_domain:PF03447,hmmpanther:PTHR31873:SF2,hmmpanther:PTHR31873		R/L		A	low	199/1040		getma.org/?cm=msa&ty=f&p=ASPD_HUMAN&rb=13&re=124&var=R46L	tolerated(0.06)	M0QZ80_HUMAN			YES	ASPDH,missense_variant,p.Arg46Leu,ENST00000389208,NM_001114598.1;ASPDH,intron_variant,,ENST00000376916,NM_001024656.2;ASPDH,intron_variant,,ENST00000601207,;ASPDH,intron_variant,,ENST00000598657,;LRRC4B,downstream_gene_variant,,ENST00000599957,;LRRC4B,downstream_gene_variant,,ENST00000389201,NM_001080457.1;JOSD2,upstream_gene_variant,,ENST00000598418,NM_001270639.1,NM_001270640.1;JOSD2,upstream_gene_variant,,ENST00000601423,NM_138334.3,NM_001270686.1;JOSD2,upstream_gene_variant,,ENST00000391815,;JOSD2,upstream_gene_variant,,ENST00000595669,NM_001270641.1;JOSD2,upstream_gene_variant,,ENST00000594350,;ASPDH,intron_variant,,ENST00000597030,;ASPDH,intron_variant,,ENST00000601287,;ASPDH,intron_variant,,ENST00000593569,;ASPDH,upstream_gene_variant,,ENST00000597232,;JOSD2,upstream_gene_variant,,ENST00000595718,;							MODERATE	137/852	R46L	ASPD_HUMAN			Transcript		possibly_damaging(0.743)	.	ENSP00000373860		CCDS46153.1			1	
NPFFR1	0	LGGM	GRCh37	10	72026044	72026044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	22	3	.	.	ENST00000277942.6:c.111G>T	p.Gln37His	p.Q37H	ENST00000277942	NM_022146.4	37	caG/caT	0	1	1	UPI000005048B	0	NA	ENST00000277942		ENSG00000148734	17425		25	1.79		HGNC	p.Q35H		NPFFR1		SNV							ENST00000449957	protein_coding	getma.org/?cm=var&var=hg19,10,72026044,C,A&fts=all		hmmpanther:PTHR24241:SF4,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01570		Q/H		A	low	111/8921		getma.org/?cm=msa&ty=f&p=NPFF1_HUMAN&rb=1&re=59&var=Q37H	tolerated(0.12)	Q5T6D8_HUMAN			YES	NPFFR1,missense_variant,p.Gln37His,ENST00000277942,NM_022146.4;							MODERATE	111/1293	Q37H	NPFF1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000277942		CCDS53539.1			1	
CCDC180	0	LGGM	GRCh37	9	100122356	100122356	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	3	.	.	ENST00000375202.2:c.3588G>A	p.Arg1196=	p.R1196=	ENST00000375202		1196	agG/agA	0	1	1	UPI00016277C6	0		ENST00000375202		ENSG00000197816	29303		43			HGNC	p.R1167R		CCDC180		SNV							ENST00000357054	protein_coding			hmmpanther:PTHR21444,hmmpanther:PTHR21444:SF14		R		A		4940/6851				B7ZMG3_HUMAN			YES	CCDC180,synonymous_variant,p.=,ENST00000375202,;CCDC180,synonymous_variant,p.=,ENST00000357054,;CCDC180,synonymous_variant,p.=,ENST00000529487,NM_020893.2;CCDC180,3_prime_UTR_variant,,ENST00000395220,;MIR1302-8,downstream_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,non_coding_transcript_exon_variant,,ENST00000532526,;CCDC180,downstream_gene_variant,,ENST00000471314,;CCDC180,upstream_gene_variant,,ENST00000527182,;							LOW	3588/5106		CC180_HUMAN			Transcript			.	ENSP00000364348		CCDS35077.2			1	
GANAB	0	LGGM	GRCh37	11	62394817	62394817	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	35	3	.	.	ENST00000346178.4:c.2255G>T	p.Trp752Leu	p.W752L	ENST00000346178	NM_198335.3	752	tGg/tTg	0	1		UPI000013D62E	0	getma.org/pdb.php?prot=GANAB_HUMAN&from=364&to=810&var=W730L	ENST00000356638		ENSG00000089597	4138		38	0.21		HGNC	p.W633L		GANAB		SNV							ENST00000540933	protein_coding	getma.org/?cm=var&var=hg19,11,62394817,C,A&fts=all		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF51,Superfamily_domains:SSF51011		W/L		A	neutral	2206/3608		getma.org/?cm=msa&ty=f&p=GANAB_HUMAN&rb=364&re=810&var=W730L	tolerated(0.21)	F5H6X6_HUMAN				GANAB,missense_variant,p.Trp752Leu,ENST00000346178,NM_198335.3;GANAB,missense_variant,p.Trp730Leu,ENST00000356638,NM_198334.2;GANAB,missense_variant,p.Trp633Leu,ENST00000540933,NM_001278194.1;GANAB,missense_variant,p.Trp638Leu,ENST00000534779,NM_001278193.1,NM_001278192.1;GANAB,3_prime_UTR_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000528503,;GANAB,upstream_gene_variant,,ENST00000531563,;							MODERATE	2189/2835	W730L	GANAB_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000349053		CCDS8026.1			1	
EVC	0	LGGM	GRCh37	4	5798837	5798837	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	20	3	.	.	ENST00000382674.2:c.1975C>A	p.Leu659Met	p.L659M	ENST00000382674		659	Ctg/Atg	0	1		UPI000012A2A5	0	NA	ENST00000264956		ENSG00000072840	3497		23	1.7		HGNC	p.L659M		EVC		SNV			1				ENST00000382674	protein_coding	getma.org/?cm=var&var=hg19,4,5798837,C,A&fts=all		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF12,Low_complexity_(Seg):seg		L/M		A	low	2159/6431		getma.org/?cm=msa&ty=f&p=EVC_HUMAN&rb=11&re=963&var=L659M	deleterious(0.04)	Q4W5F2_HUMAN,Q4W5A3_HUMAN				EVC,missense_variant,p.Leu659Met,ENST00000382674,;EVC,missense_variant,p.Leu659Met,ENST00000264956,NM_153717.2;EVC,non_coding_transcript_exon_variant,,ENST00000515113,;CRMP1,intron_variant,,ENST00000506216,;EVC,non_coding_transcript_exon_variant,,ENST00000506240,;							MODERATE	1975/2979	L659M	EVC_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000264956		CCDS3383.1			1	
DHX8	0	LGGM	GRCh37	17	41576292	41576292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	34	3	.	.	ENST00000262415.3:c.1363C>A	p.Gln455Lys	p.Q455K	ENST00000262415	NM_004941.1	455	Caa/Aaa	0	1	1	UPI00001290D9	0	NA	ENST00000262415		ENSG00000067596	2749		37	1.085		HGNC	p.Q455K		DHX8		SNV							ENST00000540306	protein_coding	getma.org/?cm=var&var=hg19,17,41576292,C,A&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF85		Q/K		A	low	1435/5558		getma.org/?cm=msa&ty=f&p=DHX8_HUMAN&rb=337&re=536&var=Q455K	tolerated(0.4)				YES	DHX8,missense_variant,p.Gln455Lys,ENST00000262415,NM_004941.1;DHX8,missense_variant,p.Gln455Lys,ENST00000540306,;DHX8,non_coding_transcript_exon_variant,,ENST00000587044,;							MODERATE	1363/3663	Q455K	DHX8_HUMAN			Transcript		benign(0.003)	.	ENSP00000262415		CCDS11464.1			1	
PTRF	0	LGGM	GRCh37	17	40556972	40556972	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	25	3	.	.	ENST00000357037.5:c.906G>T	p.Thr302=	p.T302=	ENST00000357037	NM_012232.5	302	acG/acT	0	1	1	UPI00001AF3C2	0		ENST00000357037		ENSG00000177469	9688		28			HGNC	p.T302T	COSM706309	PTRF		SNV			1			1	ENST00000357037	protein_coding			hmmpanther:PTHR15240:SF3,hmmpanther:PTHR15240,Pfam_domain:PF15237		T		A		1326/3828							YES	PTRF,synonymous_variant,p.=,ENST00000357037,NM_012232.5;					1		LOW	906/1173		PTRF_HUMAN			Transcript			.	ENSP00000349541		CCDS11425.1			1	
RIBC1	0	LGGM	GRCh37	X	53456854	53456854	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	3	.	.	ENST00000375327.3:c.597G>T	p.Leu199=	p.L199=	ENST00000375327	NM_001031745.3	199	ctG/ctT	0	1	1	UPI0000049C83	0		ENST00000375327		ENSG00000158423	26537		19			HGNC	p.L199L		RIBC1		SNV							ENST00000375327	protein_coding			Pfam_domain:PF05914,hmmpanther:PTHR14517:SF8,hmmpanther:PTHR14517		L		T		750/1416							YES	RIBC1,synonymous_variant,p.=,ENST00000375327,NM_001031745.3;RIBC1,synonymous_variant,p.=,ENST00000414955,NM_001267053.2;RIBC1,downstream_gene_variant,,ENST00000457095,NM_144968.3;HSD17B10,downstream_gene_variant,,ENST00000168216,NM_001037811.2,NM_004493.2;HSD17B10,downstream_gene_variant,,ENST00000375304,;RIBC1,downstream_gene_variant,,ENST00000329209,;HSD17B10,downstream_gene_variant,,ENST00000375298,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;HSD17B10,downstream_gene_variant,,ENST00000495986,;HSD17B10,downstream_gene_variant,,ENST00000477706,;RIBC1,downstream_gene_variant,,ENST00000490702,;							LOW	597/1140		RIBC1_HUMAN			Transcript			.	ENSP00000364476		CCDS35299.1			1	
PYGO2	0	LGGM	GRCh37	1	154931914	154931914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	17	3	.	.	ENST00000368457.2:c.562G>T	p.Gly188Trp	p.G188W	ENST00000368457	NM_138300.3	188	Ggg/Tgg	0	1	1	UPI00000015CD	0	NA	ENST00000368457		ENSG00000163348	30257		20	0.345		HGNC	p.G188W		PYGO2		SNV							ENST00000368457	protein_coding	getma.org/?cm=var&var=hg19,1,154931914,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23194:SF7,hmmpanther:PTHR23194		G/W		A	neutral	734/3146		getma.org/?cm=msa&ty=f&p=PYGO2_HUMAN&rb=149&re=318&var=G188W	deleterious(0.02)	Q5T171_HUMAN,Q5T170_HUMAN			YES	PYGO2,missense_variant,p.Gly188Trp,ENST00000368457,NM_138300.3;PYGO2,missense_variant,p.Gly151Trp,ENST00000368456,;SHC1,downstream_gene_variant,,ENST00000448116,NM_001130040.1;SHC1,downstream_gene_variant,,ENST00000368445,NM_183001.4;PBXIP1,upstream_gene_variant,,ENST00000368463,NM_020524.2;PBXIP1,upstream_gene_variant,,ENST00000368465,;SHC1,downstream_gene_variant,,ENST00000368453,NM_003029.4;SHC1,downstream_gene_variant,,ENST00000368450,NM_001130041.1,NM_001202859.1;SHC1,downstream_gene_variant,,ENST00000368449,;SHC1,downstream_gene_variant,,ENST00000606391,;PBXIP1,upstream_gene_variant,,ENST00000539880,;PBXIP1,upstream_gene_variant,,ENST00000542459,;SHC1,downstream_gene_variant,,ENST00000444664,;PBXIP1,upstream_gene_variant,,ENST00000368460,;RP11-307C12.12,upstream_gene_variant,,ENST00000605085,;SHC1,downstream_gene_variant,,ENST00000490667,;PYGO2,downstream_gene_variant,,ENST00000483463,;PBXIP1,upstream_gene_variant,,ENST00000490230,;							MODERATE	562/1221	G188W	PYGO2_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000357442		CCDS1075.1			1	
TEX29	0	LGGM	GRCh37	13	111995138	111995138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	12	3	.	.	ENST00000283547.1:c.275C>A	p.Pro92His	p.P92H	ENST00000283547	NM_152324.1	92	cCt/cAt	0	1	1	UPI0000071931	0	NA	ENST00000283547		ENSG00000153495	20370		15	0.805		HGNC	p.P92H		TEX29		SNV							ENST00000283547	protein_coding	getma.org/?cm=var&var=hg19,13,111995138,C,A&fts=all				P/H		A	low	404/709		getma.org/?cm=msa&ty=f&p=TEX29_HUMAN&rb=1&re=151&var=P92H	tolerated(0.06)				YES	TEX29,missense_variant,p.Pro92His,ENST00000283547,NM_152324.1;TEX29,3_prime_UTR_variant,,ENST00000497241,;							MODERATE	275/456	P92H	TEX29_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000283547		CCDS9522.1			1	
SIRPB1	0	LGGM	GRCh37	20	1546873	1546873	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	9	3	.	.	ENST00000381605.4:c.1125C>A	p.Leu375=	p.L375=	ENST00000381605	NM_006065.3	375	ctC/ctA	0	1	1	UPI000036700F	0		ENST00000381605		ENSG00000101307	15928		12			HGNC	p.L158L		SIRPB1		SNV							ENST00000381603	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971		L		T		1190/3241							YES	SIRPB1,synonymous_variant,p.=,ENST00000381605,NM_006065.3;SIRPB1,synonymous_variant,p.=,ENST00000381603,NM_001083910.2;SIRPB1,synonymous_variant,p.=,ENST00000262929,;SIRPB1,synonymous_variant,p.=,ENST00000569629,;RP4-576H24.4,intron_variant,,ENST00000564763,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,downstream_gene_variant,,ENST00000565076,;SIRPB1,downstream_gene_variant,,ENST00000563840,;							LOW	1125/1197		SIRB1_HUMAN			Transcript			.	ENSP00000371018		CCDS13019.1			1	
LIFR	0	LGGM	GRCh37	5	38493886	38493886	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	46	3	.	.	ENST00000263409.4:c.1887T>C	p.Asp629=	p.D629=	ENST00000263409	NM_002310.5	629	gaT/gaC	0	1	1	UPI000004CAC2	0		ENST00000263409		ENSG00000113594	6597		49			HGNC	p.D629D		LIFR		SNV			1				ENST00000263409	protein_coding			PROSITE_patterns:PS01353,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91,PROSITE_profiles:PS50853		D		G		2050/10089				D6RJ94_HUMAN,D6RF33_HUMAN			YES	LIFR,splice_region_variant,p.=,ENST00000263409,NM_002310.5;LIFR,splice_region_variant,p.=,ENST00000453190,NM_001127671.1;LIFR,splice_region_variant,,ENST00000503088,;LIFR,splice_region_variant,,ENST00000506003,;LIFR,upstream_gene_variant,,ENST00000508477,;							LOW	1887/3294		LIFR_HUMAN			Transcript			.	ENSP00000263409		CCDS3927.1			1	
IDH3B	0	LGGM	GRCh37	20	2639479	2639479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	36	3	.	.	ENST00000380843.4:c.1076G>T	p.Arg359Leu	p.R359L	ENST00000380843	NM_006899.3	359	cGg/cTg	0	1	1	UPI000013CBC6	0	getma.org/pdb.php?prot=IDH3B_HUMAN&from=50&to=376&var=R359L	ENST00000380843		ENSG00000101365	5385		39	1.115		HGNC	p.R359L		IDH3B		SNV			1				ENST00000380843	protein_coding	getma.org/?cm=var&var=hg19,20,2639479,C,A&fts=all		Gene3D:3.40.718.10,Pfam_domain:PF00180,hmmpanther:PTHR11835,hmmpanther:PTHR11835:SF39,Superfamily_domains:SSF53659,TIGRFAM_domain:TIGR00175		R/L		A	low	1107/1545		getma.org/?cm=msa&ty=f&p=IDH3B_HUMAN&rb=50&re=376&var=R359L	tolerated(0.1)	Q9UIC5_HUMAN,B4DU38_HUMAN			YES	IDH3B,missense_variant,p.Arg359Leu,ENST00000380843,NM_006899.3;IDH3B,intron_variant,,ENST00000380851,NM_001258384.1,NM_174855.2;NOP56,downstream_gene_variant,,ENST00000329276,NM_006392.3;NOP56,downstream_gene_variant,,ENST00000415272,;NOP56,downstream_gene_variant,,ENST00000445139,;SNORA51,downstream_gene_variant,,ENST00000606420,NR_002981.1;SNORD86,downstream_gene_variant,,ENST00000391196,NR_004399.1;SNORD110,downstream_gene_variant,,ENST00000408189,NR_003078.1;SNORD57,downstream_gene_variant,,ENST00000448188,NR_002738.1;SNORD56,downstream_gene_variant,,ENST00000413522,NR_002739.1;IDH3B,non_coding_transcript_exon_variant,,ENST00000488299,;IDH3B,non_coding_transcript_exon_variant,,ENST00000474315,;IDH3B,non_coding_transcript_exon_variant,,ENST00000492240,;IDH3B,non_coding_transcript_exon_variant,,ENST00000466494,;IDH3B,non_coding_transcript_exon_variant,,ENST00000477689,;NOP56,downstream_gene_variant,,ENST00000492135,;NOP56,downstream_gene_variant,,ENST00000466447,;NOP56,downstream_gene_variant,,ENST00000484998,;IDH3B,downstream_gene_variant,,ENST00000462967,;NOP56,downstream_gene_variant,,ENST00000469588,;NOP56,downstream_gene_variant,,ENST00000480992,;NOP56,downstream_gene_variant,,ENST00000494697,;NOP56,downstream_gene_variant,,ENST00000462630,;NOP56,downstream_gene_variant,,ENST00000460258,;IDH3B,downstream_gene_variant,,ENST00000491065,;NOP56,downstream_gene_variant,,ENST00000467857,;NOP56,downstream_gene_variant,,ENST00000496775,;NOP56,downstream_gene_variant,,ENST00000480447,;NOP56,downstream_gene_variant,,ENST00000490753,;NOP56,downstream_gene_variant,,ENST00000471023,;IDH3B,downstream_gene_variant,,ENST00000466999,;IDH3B,downstream_gene_variant,,ENST00000479376,;NOP56,downstream_gene_variant,,ENST00000467196,;							MODERATE	1076/1158	R359L	IDH3B_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000370223		CCDS13032.1			1	
DMXL2	0	LGGM	GRCh37	15	51742476	51742476	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	3	.	.	ENST00000543779.2:c.8754G>T	p.Ser2918=	p.S2918=	ENST00000543779		2918	tcG/tcT	0	1		UPI000013CCDD	0		ENST00000251076		ENSG00000104093	2938		42			HGNC	p.G75W		DMXL2		SNV							ENST00000559059	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		S		A		9039/10672								DMXL2,missense_variant,p.Gly75Trp,ENST00000559059,;DMXL2,synonymous_variant,p.=,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,synonymous_variant,p.=,ENST00000543779,;DMXL2,synonymous_variant,p.=,ENST00000449909,NM_001174117.1;DMXL2,synonymous_variant,p.=,ENST00000560891,;RP11-707P17.1,intron_variant,,ENST00000561007,;DMXL2,non_coding_transcript_exon_variant,,ENST00000559769,;DMXL2,downstream_gene_variant,,ENST00000559868,;							LOW	8751/9111		DMXL2_HUMAN			Transcript			.	ENSP00000251076		CCDS10141.1			1	
PCDHGA7	0	LGGM	GRCh37	5	140763701	140763701	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	3	.	.	ENST00000518325.1:c.1235G>T	p.Arg412Leu	p.R412L	ENST00000518325	NM_018920.2	412	cGg/cTg	0	1	1	UPI000007146F	0	getma.org/pdb.php?prot=PCDG7_HUMAN&from=352&to=443&var=R412L	ENST00000518325		ENSG00000253537	8705		46	5.005		HGNC	p.R412L		PCDHGA7		SNV							ENST00000518325	protein_coding	getma.org/?cm=var&var=hg19,5,140763701,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/L		T	high	1235/4605		getma.org/?cm=msa&ty=f&p=PCDG7_HUMAN&rb=352&re=443&var=R412L	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA7,missense_variant,p.Arg412Leu,ENST00000518325,NM_018920.2;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;							MODERATE	1235/2799	R412L	PCDG7_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000430024		CCDS54927.1			1	
PSMD13	0	LGGM	GRCh37	11	244176	244176	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	3	.	.	ENST00000431206.2:c.231C>A	p.Ser77=	p.S77=	ENST00000431206	NM_175932.2	77	tcC/tcA	0	1		UPI0000158430	0		ENST00000532097		ENSG00000185627	9558		21			HGNC	p.P64T		PSMD13		SNV							ENST00000382671	protein_coding			hmmpanther:PTHR10539		S		A		729/1991				Q9UNM7_HUMAN,E9PQG3_HUMAN,E9PPD2_HUMAN				PSMD13,synonymous_variant,p.=,ENST00000532097,NM_002817.3;PSMD13,synonymous_variant,p.=,ENST00000431206,NM_175932.2;PSMD13,synonymous_variant,p.=,ENST00000352303,;PSMD13,synonymous_variant,p.=,ENST00000528906,;PSMD13,upstream_gene_variant,,ENST00000526783,;PSMD13,missense_variant,p.Pro64Thr,ENST00000382671,;PSMD13,synonymous_variant,p.=,ENST00000529372,;PSMD13,3_prime_UTR_variant,,ENST00000525665,;PSMD13,non_coding_transcript_exon_variant,,ENST00000527047,;PSMD13,non_coding_transcript_exon_variant,,ENST00000534590,;PSMD13,upstream_gene_variant,,ENST00000533717,;							LOW	225/1131		PSD13_HUMAN			Transcript			.	ENSP00000436186		CCDS7692.1			1	
SPTBN1	0	LGGM	GRCh37	2	54844792	54844792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	3	.	.	ENST00000356805.4:c.614G>T	p.Gly205Val	p.G205V	ENST00000356805	NM_003128.2	205	gGc/gTc	0	1	1	UPI0000DBEE4B	0	getma.org/pdb.php?prot=SPTB2_HUMAN&from=176&to=278&var=G205V	ENST00000356805		ENSG00000115306	11275		40	4.81		HGNC	p.G192V		SPTBN1		SNV							ENST00000333896	protein_coding	getma.org/?cm=var&var=hg19,2,54844792,G,T&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PIRSF_domain:PIRSF002297,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226,SMART_domains:SM00033,Superfamily_domains:SSF47576		G/V		T	high	895/8482		getma.org/?cm=msa&ty=f&p=SPTB2_HUMAN&rb=176&re=278&var=G205V	deleterious(0)	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN			YES	SPTBN1,missense_variant,p.Gly192Val,ENST00000333896,NM_178313.2;SPTBN1,missense_variant,p.Gly205Val,ENST00000356805,NM_003128.2;SPTBN1,missense_variant,p.Gly205Val,ENST00000389980,;							MODERATE	614/7095	G205V	SPTB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349259		CCDS33198.1			1	
TLE6	0	LGGM	GRCh37	19	2980107	2980107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	24	3	.	.	ENST00000246112.4:c.61G>T	p.Gly21Trp	p.G21W	ENST00000246112	NM_001143986.1	21	Ggg/Tgg	0	1	1	UPI000059D62B	0	NA	ENST00000246112		ENSG00000104953	30788		27	0		HGNC	p.G21W		TLE6		SNV							ENST00000453329	protein_coding	getma.org/?cm=var&var=hg19,19,2980107,G,T&fts=all				G/W		T	neutral	262/2095		getma.org/?cm=msa&ty=f&p=C9JGZ7_HUMAN&rb=1&re=59&var=G21W	deleterious(0)	K7ENW8_HUMAN,C9J532_HUMAN			YES	TLE6,missense_variant,p.Gly21Trp,ENST00000246112,NM_001143986.1;TLE6,missense_variant,p.Gly21Trp,ENST00000453329,;TLE6,missense_variant,p.Gly21Trp,ENST00000482627,;TLE6,5_prime_UTR_variant,,ENST00000452088,NM_024760.2;TLE6,non_coding_transcript_exon_variant,,ENST00000468176,;TLE6,upstream_gene_variant,,ENST00000478073,;TLE6,upstream_gene_variant,,ENST00000591953,;TLE6,upstream_gene_variant,,ENST00000474207,;							MODERATE	61/1719	G21W	TLE6_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000246112		CCDS45910.1			1	
CTBP1	0	LGGM	GRCh37	4	1232053	1232053	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	3	.	.	ENST00000290921.6:c.113G>A	p.Cys38Tyr	p.C38Y	ENST00000290921	NM_001328.2	38	tGc/tAc	0	1	1	UPI0000128637	0	getma.org/pdb.php?prot=CTBP1_HUMAN&from=30&to=352&var=C38Y	ENST00000290921		ENSG00000159692	2494		21	2.48		HGNC	p.C38Y		CTBP1		SNV							ENST00000290921	protein_coding	getma.org/?cm=var&var=hg19,4,1232053,C,T&fts=all		hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF128,Pfam_domain:PF00389,Gene3D:3.40.50.720,Superfamily_domains:SSF52283		C/Y		T	medium	295/2297		getma.org/?cm=msa&ty=f&p=CTBP1_HUMAN&rb=30&re=352&var=C38Y	deleterious(0)				YES	CTBP1,missense_variant,p.Cys27Tyr,ENST00000510568,;CTBP1,missense_variant,p.Cys27Tyr,ENST00000382952,NM_001012614.1;CTBP1,missense_variant,p.Cys38Tyr,ENST00000290921,NM_001328.2;CTBP1,missense_variant,p.Cys27Tyr,ENST00000515399,;CTBP1,missense_variant,p.Cys27Tyr,ENST00000514210,;CTBP1,missense_variant,p.Cys32Tyr,ENST00000506180,;CTBP1,missense_variant,p.Cys27Tyr,ENST00000513420,;CTBP1,non_coding_transcript_exon_variant,,ENST00000515690,;CTBP1,intron_variant,,ENST00000514495,;							MODERATE	113/1323	C38Y	CTBP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000290921		CCDS3348.1			1	
C16orf71	0	LGGM	GRCh37	16	4794967	4794967	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	23	3	.	.	ENST00000299320.5:c.998C>A	p.Pro333His	p.P333H	ENST00000299320	NM_139170.2	333	cCt/cAt	0	1	1	UPI000013E57E	0	NA	ENST00000299320		ENSG00000166246	25081		26	1.59		HGNC	p.P333H		C16orf71		SNV							ENST00000299320	protein_coding	getma.org/?cm=var&var=hg19,16,4794967,C,A&fts=all				P/H		A	low	1476/2722		getma.org/?cm=msa&ty=f&p=CP071_HUMAN&rb=1&re=518&var=P333H	deleterious(0)	K7ENX3_HUMAN			YES	C16orf71,missense_variant,p.Pro333His,ENST00000299320,NM_139170.2;C16orf71,missense_variant,p.Pro347His,ENST00000590191,;ZNF500,downstream_gene_variant,,ENST00000219478,;C16orf71,downstream_gene_variant,,ENST00000586724,;ZNF500,downstream_gene_variant,,ENST00000588942,;RP11-127I20.7,intron_variant,,ENST00000588099,;C16orf71,non_coding_transcript_exon_variant,,ENST00000586256,;							MODERATE	998/1563	P333H	CP071_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000299320		CCDS10521.1			1	
SLC35F4	0	LGGM	GRCh37	14	58036527	58036527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	13	3	.	.	ENST00000339762.6:c.1213G>T	p.Gly405Trp	p.G405W	ENST00000339762		405	Ggg/Tgg	0	1	1	UPI00006C1432	0	NA	ENST00000339762		ENSG00000151812	19845		16	2.275		HGNC	p.G246W		SLC35F4		SNV							ENST00000554729	protein_coding	getma.org/?cm=var&var=hg19,14,58036527,C,A&fts=all		hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF2,Transmembrane_helices:TMhelix		G/W		A	medium	1213/1779		getma.org/?cm=msa&ty=f&p=S35F4_HUMAN&rb=330&re=521&var=G405W	deleterious(0)				YES	SLC35F4,missense_variant,p.Gly369Trp,ENST00000556826,NM_001206920.1;SLC35F4,missense_variant,p.Gly405Trp,ENST00000339762,;SLC35F4,missense_variant,p.Gly246Trp,ENST00000554729,;SLC35F4,3_prime_UTR_variant,,ENST00000557254,;SLC35F4,downstream_gene_variant,,ENST00000556306,;							MODERATE	1213/1566	G405W	S35F4_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000342518					1	
IL17RD	0	LGGM	GRCh37	3	57132264	57132264	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	3	.	.	ENST00000296318.7:c.1467C>A	p.Pro489=	p.P489=	ENST00000296318	NM_017563.3	489	ccC/ccA	0	1	1	UPI0000047CC3	0		ENST00000296318		ENSG00000144730	17616		21			HGNC	p.P345P		IL17RD		SNV			1				ENST00000320057	protein_coding			Pfam_domain:PF08357,PROSITE_profiles:PS51534,hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8		P		T		1556/8720				C9J6R0_HUMAN			YES	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,;							LOW	1467/2220		I17RD_HUMAN			Transcript			.	ENSP00000296318		CCDS2880.2			1	
RP11-429E11.3	0	LGGM	GRCh37	20	60293946	60293946	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	27	3	.	.	ENST00000317652.1:c.281G>T	p.Arg94Ile	p.R94I	ENST00000317652		94	aGa/aTa	0	1	1	UPI00001400F7	0		ENST00000317652		ENSG00000179253			30			Clone_based_vega_gene	p.R94I		RP11-429E11.3		SNV							ENST00000317652	protein_coding					R/I		A		616/2000				Q5VZ43_HUMAN			YES	RP11-429E11.3,missense_variant,p.Arg94Ile,ENST00000317652,;CDH4,intron_variant,,ENST00000360469,NM_001794.3;CDH4,intron_variant,,ENST00000543233,NM_001252339.1,NM_001252338.1;							MODERATE	281/423					Transcript		possibly_damaging(0.516)	.	ENSP00000315214					1	
NCOR1	0	LGGM	GRCh37	17	15971340	15971340	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	3	.	.	ENST00000268712.3:c.4609G>T	p.Gly1537Trp	p.G1537W	ENST00000268712	NM_006311.3	1537	Ggg/Tgg	0	1	1	UPI000013D7D5	0	NA	ENST00000268712		ENSG00000141027	7672		19	0.69		HGNC	p.G1553W		NCOR1		SNV							ENST00000395851	protein_coding	getma.org/?cm=var&var=hg19,17,15971340,C,A&fts=all		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5		G/W		A	neutral	4867/10720		getma.org/?cm=msa&ty=f&p=NCOR1_HUMAN&rb=1471&re=1670&var=G1537W		Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN			YES	NCOR1,missense_variant,p.Gly1537Trp,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Gly1553Trp,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Gly121Trp,ENST00000395857,;NCOR1,missense_variant,p.Gly168Trp,ENST00000395849,;NCOR1,non_coding_transcript_exon_variant,,ENST00000470782,;NCOR1,non_coding_transcript_exon_variant,,ENST00000458113,;NCOR1,upstream_gene_variant,,ENST00000584872,;							MODERATE	4609/7323	G1537W	NCOR1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000268712		CCDS11175.1			1	
GADD45B	0	LGGM	GRCh37	19	2477210	2477210	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	8	3	.	.	ENST00000215631.4:c.330C>A	p.Gly110=	p.G110=	ENST00000215631	NM_015675.3	110	ggC/ggA	0	1	1	UPI000012AEF0	0		ENST00000215631		ENSG00000099860	4096		11			HGNC	p.G110G		GADD45B		SNV							ENST00000587345	protein_coding			Gene3D:3.30.1330.30,Pfam_domain:PF01248,hmmpanther:PTHR10411,hmmpanther:PTHR10411:SF5,Superfamily_domains:SSF55315		G		A		562/1373				Q6IX74_HUMAN			YES	GADD45B,synonymous_variant,p.=,ENST00000215631,NM_015675.3;GADD45B,synonymous_variant,p.=,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,;							LOW	330/483		GA45B_HUMAN			Transcript			.	ENSP00000215631		CCDS32868.1			1	
ALDH1L1	0	LGGM	GRCh37	3	125873441	125873441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	42	3	.	.	ENST00000273450.3:c.706G>T	p.Gly236Trp	p.G236W	ENST00000273450	NM_001270364.1	236	Ggg/Tgg	0	1		UPI000013EE40	0	getma.org/pdb.php?prot=AL1L1_HUMAN&from=204&to=310&var=G226W	ENST00000393434		ENSG00000144908	3978		45	3.255		HGNC	p.G226W		ALDH1L1		SNV							ENST00000393431	protein_coding	getma.org/?cm=var&var=hg19,3,125873441,C,A&fts=all		Gene3D:3.10.25.10,Pfam_domain:PF02911,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF50486		G/W		A	medium	1026/3277		getma.org/?cm=msa&ty=f&p=AL1L1_HUMAN&rb=204&re=310&var=G226W	deleterious_low_confidence(0)	D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN				ALDH1L1,missense_variant,p.Gly226Trp,ENST00000393434,NM_012190.3;ALDH1L1,missense_variant,p.Gly236Trp,ENST00000273450,NM_001270364.1;ALDH1L1,missense_variant,p.Gly226Trp,ENST00000472186,;ALDH1L1,missense_variant,p.Gly226Trp,ENST00000393431,;ALDH1L1,missense_variant,p.Gly125Trp,ENST00000452905,NM_001270365.1;ALDH1L1,missense_variant,p.Gly51Trp,ENST00000455064,;ALDH1L1,downstream_gene_variant,,ENST00000460368,;ALDH1L1,downstream_gene_variant,,ENST00000488356,;ALDH1L1,downstream_gene_variant,,ENST00000490367,;ALDH1L1,downstream_gene_variant,,ENST00000509952,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000413612,;ALDH1L1,3_prime_UTR_variant,,ENST00000473607,;ALDH1L1,3_prime_UTR_variant,,ENST00000493803,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000476245,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000484724,;ALDH1L1,downstream_gene_variant,,ENST00000511283,;							MODERATE	676/2709	G226W	AL1L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377083		CCDS3034.1			1	
IFRD2	0	LGGM	GRCh37	3	50326035	50326035	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	32	3	.	.	ENST00000429673.2:c.1323G>T	p.Ser441=	p.S441=	ENST00000429673		441	tcG/tcT	0	1		UPI000012D3DB	0		ENST00000417626		ENSG00000214706	5457		35			HGNC	p.S441S	COSM3595549	IFRD2		SNV						1	ENST00000429673	protein_coding			hmmpanther:PTHR12354,hmmpanther:PTHR12354:SF8		S		A		1452/2109								IFRD2,synonymous_variant,p.=,ENST00000436390,;IFRD2,synonymous_variant,p.=,ENST00000336089,;IFRD2,synonymous_variant,p.=,ENST00000417626,NM_006764.4;IFRD2,synonymous_variant,p.=,ENST00000429673,;IFRD2,synonymous_variant,p.=,ENST00000426499,;HYAL3,downstream_gene_variant,,ENST00000336307,NM_003549.3,NM_001200029.1;HYAL3,downstream_gene_variant,,ENST00000359051,NM_001200030.1;LSMEM2,downstream_gene_variant,,ENST00000316436,NM_153215.1;HYAL3,downstream_gene_variant,,ENST00000450982,;HYAL3,downstream_gene_variant,,ENST00000415204,NM_001200031.1;HYAL3,downstream_gene_variant,,ENST00000513170,NM_001200032.1;IFRD2,downstream_gene_variant,,ENST00000484043,;IFRD2,downstream_gene_variant,,ENST00000468737,;IFRD2,3_prime_UTR_variant,,ENST00000438296,;IFRD2,non_coding_transcript_exon_variant,,ENST00000474556,;IFRD2,non_coding_transcript_exon_variant,,ENST00000464258,;IFRD2,non_coding_transcript_exon_variant,,ENST00000492387,;IFRD2,non_coding_transcript_exon_variant,,ENST00000486322,;IFRD2,downstream_gene_variant,,ENST00000414734,;IFRD2,downstream_gene_variant,,ENST00000489569,;IFRD2,downstream_gene_variant,,ENST00000462001,;IFRD2,downstream_gene_variant,,ENST00000483071,;IFRD2,downstream_gene_variant,,ENST00000469855,;					1		LOW	1131/1329		IFRD2_HUMAN			Transcript			.	ENSP00000402849					1	
FUT3	0	LGGM	GRCh37	19	5844184	5844184	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	35	3	.	.	ENST00000303225.6:c.667G>T	p.Gly223Ter	p.G223*	ENST00000303225	NM_000149.3	223	Gga/Tga	0	1	1	UPI000013E879	0	NA	ENST00000303225		ENSG00000171124	4014		38	0		HGNC	p.G223X		FUT3		SNV			1				ENST00000589918	protein_coding	getma.org/?cm=var&var=hg19,19,5844184,C,A&fts=all		Pfam_domain:PF00852,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF137,Superfamily_domains:SSF53756		G/*		A	NA	1302/2584		NA		K7ES24_HUMAN,K7EQ20_HUMAN,K7ENT3_HUMAN			YES	FUT3,stop_gained,p.Gly223Ter,ENST00000303225,NM_000149.3;FUT3,stop_gained,p.Gly223Ter,ENST00000589620,NM_001097639.1;FUT3,stop_gained,p.Gly223Ter,ENST00000589918,NM_001097640.1;FUT3,stop_gained,p.Gly223Ter,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,;							HIGH	667/1086	G223*	FUT3_HUMAN			Transcript			.	ENSP00000305603		CCDS12153.1			1	
DLGAP3	0	LGGM	GRCh37	1	35334212	35334212	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	3	.	.	ENST00000373347.1:c.2479G>T	p.Glu827Ter	p.E827*	ENST00000373347		827	Gag/Tag	0	1		UPI00003D4D81	0	NA	ENST00000235180		ENSG00000116544	30368		24	0		HGNC	p.E827X		DLGAP3		SNV							ENST00000235180	protein_coding	getma.org/?cm=var&var=hg19,1,35334212,C,A&fts=all		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF4,Pfam_domain:PF03359		E/*		A	NA	2479/3587		NA		B4DH33_HUMAN				DLGAP3,stop_gained,p.Glu827Ter,ENST00000373347,;DLGAP3,stop_gained,p.Glu827Ter,ENST00000235180,NM_001080418.1;							HIGH	2479/2940	E827*	DLGP3_HUMAN			Transcript			.	ENSP00000235180		CCDS30670.1			1	
SPRY2	0	LGGM	GRCh37	13	80911245	80911245	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	26	3	.	.	ENST00000377102.1:c.596G>T	p.Trp199Leu	p.W199L	ENST00000377102		199	tGg/tTg	0	1	1	UPI0000001301	0	NA	ENST00000377102		ENSG00000136158	11270		29	0.305		HGNC	p.W199L		SPRY2		SNV							ENST00000377104	protein_coding	getma.org/?cm=var&var=hg19,13,80911245,C,A&fts=all		Pfam_domain:PF05210,PROSITE_profiles:PS51227,hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF8		W/L		A	neutral	1574/2708		getma.org/?cm=msa&ty=f&p=SPY2_HUMAN&rb=183&re=294&var=W199L	tolerated(0.81)				YES	SPRY2,missense_variant,p.Trp199Leu,ENST00000377102,;SPRY2,missense_variant,p.Trp199Leu,ENST00000377104,NM_005842.2;SPRY2,missense_variant,p.Trp199Leu,ENST00000540649,;							MODERATE	596/948	W199L	SPY2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000366306		CCDS9463.1			1	
SLC27A3	0	LGGM	GRCh37	1	153751239	153751239	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	3	.	.	ENST00000368661.3:c.1665C>A	p.Ala555=	p.A555=	ENST00000368661	NM_024330.1	555	gcC/gcA	0	1	1	UPI0000038E9E	0		ENST00000368661		ENSG00000143554	10997		21			HGNC	p.A555A		SLC27A3		SNV							ENST00000368661	protein_coding			hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096,Pfam_domain:PF00501,Gene3D:2.30.38.10,Superfamily_domains:SSF56801		A		A		1730/2410							YES	SLC27A3,synonymous_variant,p.=,ENST00000271857,;SLC27A3,synonymous_variant,p.=,ENST00000368661,NM_024330.1;SLC27A3,synonymous_variant,p.=,ENST00000458027,;SLC27A3,synonymous_variant,p.=,ENST00000524676,;SLC27A3,intron_variant,,ENST00000532853,;INTS3,downstream_gene_variant,,ENST00000456435,;INTS3,downstream_gene_variant,,ENST00000318967,NM_023015.3;SLC27A3,non_coding_transcript_exon_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000483574,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000531251,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468044,;INTS3,downstream_gene_variant,,ENST00000481797,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,downstream_gene_variant,,ENST00000461269,;SLC27A3,upstream_gene_variant,,ENST00000368659,;							LOW	1665/2193		S27A3_HUMAN			Transcript			.	ENSP00000357650		CCDS1053.1			1	
OVCH2	0	LGGM	GRCh37	11	7723322	7723322	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	3	.	.	ENST00000454689.1:c.500G>T	p.Arg167Leu	p.R167L	ENST00000454689	NM_198185.3	167	cGg/cTg	0	1	1	UPI00015294E3	0	getma.org/pdb.php?prot=OVCH2_HUMAN&from=52&to=294&var=R167L	ENST00000454689		ENSG00000183378	29970		46	0.28		HGNC	p.R167L		OVCH2		SNV							ENST00000454689	protein_coding	getma.org/?cm=var&var=hg19,11,7723322,C,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24251:SF16,hmmpanther:PTHR24251,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		R/L		A	neutral	500/1695		getma.org/?cm=msa&ty=f&p=OVCH2_HUMAN&rb=52&re=294&var=R167L	deleterious(0)				YES	OVCH2,missense_variant,p.Arg167Leu,ENST00000454689,NM_198185.3;RP11-35J10.5,downstream_gene_variant,,ENST00000527565,;RP11-35J10.4,upstream_gene_variant,,ENST00000527443,;OVCH2,upstream_gene_variant,,ENST00000534817,;OVCH2,missense_variant,p.Arg171Leu,ENST00000534193,;							MODERATE	500/1695	R167L	OVCH2_HUMAN			Transcript		benign(0.11)	.	ENSP00000407158					1	
ASB2	0	LGGM	GRCh37	14	94404160	94404160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	11	3	.	.	ENST00000555019.1:c.1655G>T	p.Trp552Leu	p.W552L	ENST00000555019	NM_001202429.1	552	tGg/tTg	0	1		UPI000000160E	0	NA	ENST00000315988		ENSG00000100628	16012		14	0.475		HGNC	p.W450L		ASB2		SNV							ENST00000555507	protein_coding	getma.org/?cm=var&var=hg19,14,94404160,C,A&fts=all		hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF0		W/L		A	neutral	2000/2743		getma.org/?cm=msa&ty=f&p=ASB2_HUMAN&rb=456&re=544&var=W504L	tolerated(0.07)	G3V484_HUMAN				ASB2,missense_variant,p.Trp552Leu,ENST00000555019,NM_001202429.1;ASB2,missense_variant,p.Trp504Leu,ENST00000315988,NM_016150.4;ASB2,missense_variant,p.Trp450Leu,ENST00000555507,;RP11-131H24.4,upstream_gene_variant,,ENST00000557646,;ASB2,downstream_gene_variant,,ENST00000556337,;ASB2,non_coding_transcript_exon_variant,,ENST00000553883,;							MODERATE	1511/1764	W504L	ASB2_HUMAN			Transcript		benign(0.414)	.	ENSP00000320675		CCDS9915.1			1	
C17orf74	0	LGGM	GRCh37	17	7329825	7329825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	32	3	.	.	ENST00000333870.3:c.515G>T	p.Arg172Leu	p.R172L	ENST00000333870	NM_175734.4	172	cGa/cTa	0	1	1	UPI000015FC87	0	NA	ENST00000333870		ENSG00000184560	27315		35	0.55		HGNC	p.R172L		C17orf74		SNV							ENST00000333870	protein_coding	getma.org/?cm=var&var=hg19,17,7329825,G,T&fts=all				R/L		T	neutral	589/1651		getma.org/?cm=msa&ty=f&p=CQ074_HUMAN&rb=128&re=499&var=R172L	tolerated(0.09)				YES	C17orf74,missense_variant,p.Arg172Leu,ENST00000333870,NM_175734.4;C17orf74,intron_variant,,ENST00000574034,;SPEM1,downstream_gene_variant,,ENST00000323675,NM_199339.2;RP11-104H15.7,intron_variant,,ENST00000575310,;							MODERATE	515/1506	R172L	CQ074_HUMAN			Transcript		benign(0.058)	.	ENSP00000328061		CCDS42255.1			1	
ALG1	0	LGGM	GRCh37	16	5128805	5128805	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	3	.	.	ENST00000262374.5:c.788G>T	p.Arg263Leu	p.R263L	ENST00000262374	NM_019109.4	263	cGg/cTg	0	1	1	UPI000003B09B	0	NA	ENST00000262374		ENSG00000033011	18294		21	1.25		HGNC	p.R152L		ALG1		SNV			1				ENST00000591783	protein_coding	getma.org/?cm=var&var=hg19,16,5128805,G,T&fts=all		hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0		R/L		T	low	819/1939		getma.org/?cm=msa&ty=f&p=ALG1_HUMAN&rb=201&re=275&var=R263L	tolerated(0.49)	K7EID2_HUMAN,B4DP08_HUMAN			YES	ALG1,missense_variant,p.Arg152Leu,ENST00000588623,;ALG1,missense_variant,p.Arg263Leu,ENST00000262374,NM_019109.4;ALG1,missense_variant,p.Arg152Leu,ENST00000544428,;ALG1,missense_variant,p.Arg152Leu,ENST00000591783,;ALG1,downstream_gene_variant,,ENST00000586840,;ALG1,3_prime_UTR_variant,,ENST00000591822,;RP11-10K17.3,upstream_gene_variant,,ENST00000564330,;							MODERATE	788/1395	R263L	ALG1_HUMAN			Transcript		benign(0.006)	.	ENSP00000262374		CCDS10528.1			1	
LRP4	0	LGGM	GRCh37	11	46880739	46880739	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	3	.	.	ENST00000378623.1:c.5513G>T	p.Arg1838Leu	p.R1838L	ENST00000378623	NM_002334.3	1838	cGg/cTg	0	1	1	UPI0000D625E9	0	NA	ENST00000378623		ENSG00000134569	6696		46	0.55		HGNC	p.R1838L		LRP4		SNV			1				ENST00000378623	protein_coding	getma.org/?cm=var&var=hg19,11,46880739,C,A&fts=all		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196		R/L		A	neutral	5756/8076		getma.org/?cm=msa&ty=f&p=LRP4_HUMAN&rb=1716&re=1903&var=R1838L	deleterious_low_confidence(0.02)				YES	LRP4,missense_variant,p.Arg1838Leu,ENST00000378623,NM_002334.3;LRP4-AS1,intron_variant,,ENST00000502049,;LRP4-AS1,intron_variant,,ENST00000531719,;LRP4,non_coding_transcript_exon_variant,,ENST00000529604,;							MODERATE	5513/5718	R1838L	LRP4_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000367888		CCDS31478.1			1	
SLC25A12	0	LGGM	GRCh37	2	172644337	172644337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	3	.	.	ENST00000422440.2:c.1706G>T	p.Arg569Leu	p.R569L	ENST00000422440	NM_003705.4	569	cGg/cTg	0	1	1	UPI0000070D4E	0	getma.org/pdb.php?prot=CMC1_HUMAN&from=514&to=609&var=R569L	ENST00000422440		ENSG00000115840	10982		40	2.39		HGNC	p.R462L		SLC25A12		SNV			1				ENST00000392592	protein_coding	getma.org/?cm=var&var=hg19,2,172644337,C,A&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF204		R/L		A	medium	1744/2979		getma.org/?cm=msa&ty=f&p=CMC1_HUMAN&rb=514&re=609&var=R569L	deleterious(0.04)				YES	SLC25A12,missense_variant,p.Arg569Leu,ENST00000422440,NM_003705.4;SLC25A12,missense_variant,p.Arg462Leu,ENST00000392592,;SLC25A12,3_prime_UTR_variant,,ENST00000263812,;SLC25A12,non_coding_transcript_exon_variant,,ENST00000472070,;							MODERATE	1706/2037	R569L	CMC1_HUMAN			Transcript		benign(0.255)	.	ENSP00000388658		CCDS33327.1			1	
SAP130	0	LGGM	GRCh37	2	128757630	128757630	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	3	.	.	ENST00000357702.5:c.1186G>T	p.Gly396Ter	p.G396*	ENST00000357702	NM_001145928.1	396	Gga/Tga	0	1		UPI0000037CDA	0	NA	ENST00000259235		ENSG00000136715	29813		18	0		HGNC	p.G396X		SAP130		SNV							ENST00000357702	protein_coding	getma.org/?cm=var&var=hg19,2,128757630,C,A&fts=all		hmmpanther:PTHR13497		G/*		A	NA	1316/4065		NA		C9J683_HUMAN				SAP130,stop_gained,p.Gly396Ter,ENST00000357702,NM_001145928.1;SAP130,stop_gained,p.Gly370Ter,ENST00000259234,;SAP130,stop_gained,p.Gly396Ter,ENST00000259235,NM_024545.3;							HIGH	1186/3147	G396*	SP130_HUMAN			Transcript			.	ENSP00000259235		CCDS2153.1			1	
LRFN5	0	LGGM	GRCh37	14	42360790	42360790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	3	.	.	ENST00000298119.4:c.1723G>T	p.Gly575Trp	p.G575W	ENST00000298119	NM_152447.3	575	Ggg/Tgg	0	1	1	UPI000000DA1E	0	NA	ENST00000298119		ENSG00000165379	20360		43	0		HGNC	p.G575W		LRFN5		SNV							ENST00000298119	protein_coding	getma.org/?cm=var&var=hg19,14,42360790,G,T&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3		G/W		T	neutral	2912/3723		getma.org/?cm=msa&ty=f&p=LRFN5_HUMAN&rb=575&re=719&var=G575W	deleterious(0)				YES	LRFN5,missense_variant,p.Gly575Trp,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;							MODERATE	1723/2160	G575W	LRFN5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000298119		CCDS9678.1			1	
TC2N	0	LGGM	GRCh37	14	92278882	92278882	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	3	.	.	ENST00000435962.2:c.75G>T	p.Val25=	p.V25=	ENST00000435962	NM_001128596.1	25	gtG/gtT	0	1		UPI000013E531	0		ENST00000340892		ENSG00000165929	19859		33			HGNC	p.V25V		TC2N		SNV							ENST00000556018	protein_coding					V		A		389/4708								TC2N,synonymous_variant,p.=,ENST00000435962,NM_001128596.1;TC2N,synonymous_variant,p.=,ENST00000340892,NM_152332.4;TC2N,synonymous_variant,p.=,ENST00000360594,NM_001128595.1;TC2N,synonymous_variant,p.=,ENST00000556018,;TC2N,non_coding_transcript_exon_variant,,ENST00000554424,;							LOW	75/1473		TAC2N_HUMAN			Transcript			.	ENSP00000343199		CCDS9897.1			1	
TRAV8-3	0	LGGM	GRCh37	14	22321018	22321018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000390435.1:c.176C>A	p.Pro59His	p.P59H	ENST00000390435		59	cCc/cAc	0	1	1	UPI000011C70A	0		ENST00000390435		ENSG00000211787	12148		17			HGNC	p.P59H		TRAV8-3		SNV							ENST00000390435	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19367:SF1,hmmpanther:PTHR19367,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		P/H		A		176/341			deleterious(0.01)				YES	TRAV8-3,missense_variant,p.Pro59His,ENST00000390435,;							MODERATE	176/341					Transcript		possibly_damaging(0.618)	.	ENSP00000440087					1	
SYTL4	0	LGGM	GRCh37	X	99936262	99936262	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	3	.	.	ENST00000455616.1:c.1520C>A	p.Pro507Gln	p.P507Q	ENST00000455616		507	cCa/cAa	0	1		UPI00001AE9F2	0	NA	ENST00000263033		ENSG00000102362	15588		19	2.195		HGNC	p.P507Q		SYTL4		SNV							ENST00000455616	protein_coding	getma.org/?cm=var&var=hg19,X,99936262,G,T&fts=all		hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		P/Q		T	medium	1708/2335		getma.org/?cm=msa&ty=f&p=SYTL4_HUMAN&rb=463&re=527&var=P507Q	tolerated(0.06)	B3KUZ4_HUMAN				SYTL4,missense_variant,p.Pro507Gln,ENST00000455616,;SYTL4,missense_variant,p.Pro507Gln,ENST00000372989,NM_080737.2;SYTL4,missense_variant,p.Pro509Gln,ENST00000454200,;SYTL4,missense_variant,p.Pro507Gln,ENST00000276141,NM_001174068.1;SYTL4,missense_variant,p.Pro507Gln,ENST00000263033,NM_001129896.2;SYTL4,downstream_gene_variant,,ENST00000372981,;SYTL4,upstream_gene_variant,,ENST00000491602,;							MODERATE	1520/2016	P507Q	SYTL4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263033		CCDS14472.1			1	
RGS11	0	LGGM	GRCh37	16	321543	321543	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	26	3	.	.	ENST00000397770.3:c.683G>T	p.Arg228Leu	p.R228L	ENST00000397770		228	cGg/cTg	0	1	1	UPI000013382E	0	getma.org/pdb.php?prot=RGS11_HUMAN&from=215&to=284&var=R228L	ENST00000397770		ENSG00000076344	9993		29	1.87		HGNC	p.R228L		RGS11		SNV							ENST00000397770	protein_coding	getma.org/?cm=var&var=hg19,16,321543,C,A&fts=all		hmmpanther:PTHR10845:SF21,hmmpanther:PTHR10845,Pfam_domain:PF00631,Gene3D:4.10.260.10,SMART_domains:SM00224,Superfamily_domains:SSF48670		R/L		A	low	701/2390		getma.org/?cm=msa&ty=f&p=RGS11_HUMAN&rb=215&re=284&var=R228L	deleterious(0.02)	Q4TT70_HUMAN			YES	RGS11,missense_variant,p.Arg228Leu,ENST00000397770,;RGS11,missense_variant,p.Arg207Leu,ENST00000316163,NM_183337.1,NM_003834.1;RGS11,missense_variant,p.Arg217Leu,ENST00000359740,NM_001286485.1;ARHGDIG,intron_variant,,ENST00000435035,;ARHGDIG,intron_variant,,ENST00000412541,;ITFG3,downstream_gene_variant,,ENST00000442458,;ITFG3,downstream_gene_variant,,ENST00000600536,;ITFG3,downstream_gene_variant,,ENST00000301679,;ITFG3,downstream_gene_variant,,ENST00000450082,;RGS11,downstream_gene_variant,,ENST00000397768,;RGS11,downstream_gene_variant,,ENST00000431291,;ARHGDIG,intron_variant,,ENST00000464609,;RGS11,3_prime_UTR_variant,,ENST00000168869,NM_001286486.1;RGS11,non_coding_transcript_exon_variant,,ENST00000477143,;RGS11,non_coding_transcript_exon_variant,,ENST00000481672,;RGS11,downstream_gene_variant,,ENST00000493449,;RGS11,downstream_gene_variant,,ENST00000472466,;							MODERATE	683/1404	R228L	RGS11_HUMAN			Transcript		benign(0.011)	.	ENSP00000380876		CCDS42088.1			1	
OR6C76	0	LGGM	GRCh37	12	55820556	55820556	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	41	3	.	.	ENST00000328314.3:c.519C>A	p.His173Gln	p.H173Q	ENST00000328314	NM_001005183.1	173	caC/caA	0	1	1	UPI000023786F	0	NA	ENST00000328314		ENSG00000185821	31305		44	2.665		HGNC	p.H173Q		OR6C76		SNV							ENST00000328314	protein_coding	getma.org/?cm=var&var=hg19,12,55820556,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26454,hmmpanther:PTHR26454:SF35,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		H/Q		A	medium	519/939		getma.org/?cm=msa&ty=f&p=O6C76_HUMAN&rb=136&re=280&var=H173Q	deleterious_low_confidence(0)				YES	OR6C76,missense_variant,p.His173Gln,ENST00000328314,NM_001005183.1;							MODERATE	519/939	H173Q	O6C76_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328402		CCDS31823.1			1	
AQP2	0	LGGM	GRCh37	12	50349249	50349249	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	10	3	.	.	ENST00000199280.3:c.674C>A	p.Pro225Gln	p.P225Q	ENST00000199280	NM_000486.5	225	cCg/cAg	0	1	1	UPI000000D9DF	0	NA	ENST00000199280		ENSG00000167580	634		13	2.395		HGNC	p.P225Q		AQP2		SNV			1				ENST00000199280	protein_coding	getma.org/?cm=var&var=hg19,12,50349249,C,A&fts=all		hmmpanther:PTHR19139:SF45,hmmpanther:PTHR19139,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338		P/Q		A	medium	759/4174		getma.org/?cm=msa&ty=f&p=AQP2_HUMAN&rb=220&re=271&var=P225Q	deleterious(0)				YES	AQP2,missense_variant,p.Pro225Gln,ENST00000199280,NM_000486.5;AQP2,downstream_gene_variant,,ENST00000550862,;RP11-469H8.6,intron_variant,,ENST00000552379,;RP11-469H8.8,intron_variant,,ENST00000552806,;RP11-469H8.6,intron_variant,,ENST00000550530,;RP11-469H8.6,downstream_gene_variant,,ENST00000550214,;AQP2,intron_variant,,ENST00000551526,;							MODERATE	674/816	P225Q	AQP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000199280		CCDS8792.1			1	
KCNJ12	0	LGGM	GRCh37	17	21319720	21319720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	47	3	.	.	ENST00000583088.1:c.1066C>A	p.Arg356Ser	p.R356S	ENST00000583088	NM_021012.4	356	Cgc/Agc	0	1		UPI00000725C7	0	getma.org/pdb.php?prot=IRK12_HUMAN&from=47&to=381&var=R356S	ENST00000331718		ENSG00000184185	6258		50	0.84		HGNC	p.R356S	COSM1381530	KCNJ12		SNV						1	ENST00000331718	protein_coding	getma.org/?cm=var&var=hg19,17,21319720,C,A&fts=all		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81296		R/S		A	low	1436/2198		getma.org/?cm=msa&ty=f&p=IRK12_HUMAN&rb=47&re=381&var=R356S	tolerated(0.53)					KCNJ12,missense_variant,p.Arg356Ser,ENST00000583088,NM_021012.4;KCNJ12,missense_variant,p.Arg356Ser,ENST00000331718,NM_001194958.2;					1		MODERATE	1066/1302	R356S	IRK12_HUMAN			Transcript		benign(0.1)	.	ENSP00000328150		CCDS11219.1			1	
COL7A1	0	LGGM	GRCh37	3	48618898	48618898	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	3	.	.	ENST00000328333.8:c.4801G>T	p.Gly1601Cys	p.G1601C	ENST00000328333	NM_000094.3	1601	Ggc/Tgc	0	1	1	UPI0000126D20	0	getma.org/pdb.php?prot=CO7A1_HUMAN&from=1549&to=1748&var=G1601C	ENST00000328333		ENSG00000114270	2214		32	3.745		HGNC	p.G1601C		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48618898,C,A&fts=all		hmmpanther:PTHR24023		G/C		A	high	4909/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=1549&re=1748&var=G1601C					YES	COL7A1,missense_variant,p.Gly1601Cys,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Gly1601Cys,ENST00000454817,;MIR711,upstream_gene_variant,,ENST00000390201,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;							MODERATE	4801/8835	G1601C	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
SLITRK6	0	LGGM	GRCh37	13	86369828	86369828	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	3	.	.	ENST00000400286.2:c.816G>T	p.Val272=	p.V272=	ENST00000400286	NM_032229.2	272	gtG/gtT	0	1	1	UPI000004C9D6	0		ENST00000400286		ENSG00000184564	23503		40			HGNC	p.V272V		SLITRK6		SNV			1				ENST00000400286	protein_coding			hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373		V		A		1415/4318							YES	SLITRK6,synonymous_variant,p.=,ENST00000400286,NM_032229.2;							LOW	816/2526		SLIK6_HUMAN			Transcript			.	ENSP00000383143		CCDS41903.1			1	
CD19	0	LGGM	GRCh37	16	28944574	28944574	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	17	3	.	.	ENST00000538922.1:c.579C>A	p.Gly193=	p.G193=	ENST00000538922	NM_001178098.1	193	ggC/ggA	0	1		UPI000006E166	0		ENST00000324662		ENSG00000177455	1633		20			HGNC	p.G193G		CD19		SNV			1				ENST00000538922	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		G		A		623/1932				Q71UW0_HUMAN				CD19,synonymous_variant,p.=,ENST00000538922,NM_001178098.1,NM_001770.5;CD19,synonymous_variant,p.=,ENST00000324662,;CD19,synonymous_variant,p.=,ENST00000567541,;RABEP2,intron_variant,,ENST00000566762,;CD19,non_coding_transcript_exon_variant,,ENST00000565089,;CD19,non_coding_transcript_exon_variant,,ENST00000566890,;CD19,upstream_gene_variant,,ENST00000567368,;							LOW	579/1671		CD19_HUMAN			Transcript			.	ENSP00000313419		CCDS10644.1			1	
SND1	0	LGGM	GRCh37	7	127729627	127729627	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	3	.	.	ENST00000354725.3:c.2505C>A	p.Ala835=	p.A835=	ENST00000354725	NM_014390.2	835	gcC/gcA	0	1	1	UPI00000727E5	0		ENST00000354725		ENSG00000197157	30646		33			HGNC	p.A835A		SND1		SNV							ENST00000354725	protein_coding			hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,Superfamily_domains:0047647		A		A		2699/3476				B2R5U1_HUMAN			YES	SND1,synonymous_variant,p.=,ENST00000354725,NM_014390.2;SND1,downstream_gene_variant,,ENST00000486037,;SND1,non_coding_transcript_exon_variant,,ENST00000485871,;SND1,downstream_gene_variant,,ENST00000470463,;SND1,non_coding_transcript_exon_variant,,ENST00000489417,;							LOW	2505/2733		SND1_HUMAN			Transcript			.	ENSP00000346762		CCDS34747.1			1	
GDF10	0	LGGM	GRCh37	10	48426571	48426571	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	3	.	.	ENST00000224605.2:c.1436G>T	p.Ter479LeuextTer69	p.*479Lext*69	ENST00000224605	NM_004962.3	479	tGa/tTa	0	1	1	UPI0000126A13	0		ENST00000224605		ENSG00000107623	4215		32			HGNC	p.X479L		GDF10		SNV							ENST00000224605	protein_coding					*/L		A		1702/2458				Q8N6T2_HUMAN			YES	GDF10,stop_lost,p.Ter479LeuextTer69,ENST00000224605,NM_004962.3;							HIGH	1436/1437		BMP3B_HUMAN			Transcript			.	ENSP00000224605		CCDS7220.1			1	
UBA7	0	LGGM	GRCh37	3	49847305	49847305	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	38	3	.	.	ENST00000333486.3:c.1847G>T	p.Arg616Leu	p.R616L	ENST00000333486	NM_003335.2	616	cGg/cTg	0	1	1	UPI000006E3F8	0	getma.org/pdb.php?prot=UBA7_HUMAN&from=577&to=624&var=R616L	ENST00000333486		ENSG00000182179	12471		41	2.52		HGNC	p.R616L		UBA7		SNV							ENST00000333486	protein_coding	getma.org/?cm=var&var=hg19,3,49847305,C,A&fts=all		Gene3D:1y8qD02,Pfam_domain:PF10585,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Superfamily_domains:SSF69572,TIGRFAM_domain:TIGR01408		R/L		A	medium	2006/3299		getma.org/?cm=msa&ty=f&p=UBA7_HUMAN&rb=577&re=624&var=R616L	deleterious(0.01)				YES	UBA7,missense_variant,p.Arg616Leu,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,,ENST00000478875,;UBA7,non_coding_transcript_exon_variant,,ENST00000473992,;UBA7,downstream_gene_variant,,ENST00000460703,;UBA7,downstream_gene_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000488536,;UBA7,upstream_gene_variant,,ENST00000497908,;UBA7,downstream_gene_variant,,ENST00000460516,;UBA7,downstream_gene_variant,,ENST00000489826,;							MODERATE	1847/3039	R616L	UBA7_HUMAN			Transcript		benign(0.383)	.	ENSP00000333266		CCDS2805.1			1	
FGF6	0	LGGM	GRCh37	12	4554661	4554661	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	26	3	.	.	ENST00000228837.2:c.76G>T	p.Val26Phe	p.V26F	ENST00000228837	NM_020996.1	26	Gtc/Ttc	0	1	1	UPI00000411BF	0	NA	ENST00000228837		ENSG00000111241	3684		29	0.46		HGNC	p.V26F		FGF6		SNV							ENST00000228837	protein_coding	getma.org/?cm=var&var=hg19,12,4554661,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25		V/F		A	neutral	120/743		getma.org/?cm=msa&ty=f&p=FGF6_HUMAN&rb=1&re=83&var=V26F	deleterious(0.05)				YES	FGF6,missense_variant,p.Val26Phe,ENST00000228837,NM_020996.1;FGF6,upstream_gene_variant,,ENST00000543077,;							MODERATE	76/627	V26F	FGF6_HUMAN			Transcript		benign(0.002)	.	ENSP00000228837		CCDS8527.1			1	
NCOR1	0	LGGM	GRCh37	17	16001756	16001756	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	26	3	.	.	ENST00000268712.3:c.2745C>A	p.Leu915=	p.L915=	ENST00000268712	NM_006311.3	915	ctC/ctA	0	1	1	UPI000013D7D5	0		ENST00000268712		ENSG00000141027	7672		29			HGNC	p.L822L		NCOR1		SNV							ENST00000395848	protein_coding			hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5		L		T		3003/10720				Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN			YES	NCOR1,synonymous_variant,p.=,ENST00000268712,NM_006311.3;NCOR1,synonymous_variant,p.=,ENST00000395851,NM_001190440.1;NCOR1,synonymous_variant,p.=,ENST00000395848,NM_001190438.1;RNU6-314P,upstream_gene_variant,,ENST00000516574,;NCOR1,downstream_gene_variant,,ENST00000583226,;							LOW	2745/7323		NCOR1_HUMAN			Transcript			.	ENSP00000268712		CCDS11175.1			1	
CAMK1	0	LGGM	GRCh37	3	9799483	9799483	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000256460.3:c.960G>T	p.Gln320His	p.Q320H	ENST00000256460	NM_003656.4	320	caG/caT	0	1	1	UPI00000534BB	0	getma.org/pdb.php?prot=KCC1A_HUMAN&from=277&to=370&var=Q320H	ENST00000256460		ENSG00000134072	1459		17	1.32		HGNC	p.Q320H		CAMK1		SNV							ENST00000256460	protein_coding	getma.org/?cm=var&var=hg19,3,9799483,C,A&fts=all		hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF113		Q/H		A	low	1138/1488		getma.org/?cm=msa&ty=f&p=KCC1A_HUMAN&rb=277&re=370&var=Q320H	tolerated(0.54)	B0YIY3_HUMAN			YES	CAMK1,missense_variant,p.Gln320His,ENST00000256460,NM_003656.4;CAMK1,missense_variant,p.Gln167His,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,;							MODERATE	960/1113	Q320H	KCC1A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000256460		CCDS2582.1			1	
CPNE9	0	LGGM	GRCh37	3	9771219	9771219	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	3	.	.	ENST00000383832.3:c.1505G>T	p.Arg502Leu	p.R502L	ENST00000383832	NM_153635.2	502	cGg/cTg	0	1	1	UPI0000412048	0	NA	ENST00000383832		ENSG00000144550	24336		42	2.495		HGNC	p.R502L		CPNE9		SNV							ENST00000383832	protein_coding	getma.org/?cm=var&var=hg19,3,9771219,G,T&fts=all		hmmpanther:PTHR10857:SF10,hmmpanther:PTHR10857		R/L		T	medium	1695/2068		getma.org/?cm=msa&ty=f&p=CPNE9_HUMAN&rb=463&re=553&var=R502L	tolerated(0.08)				YES	CPNE9,missense_variant,p.Arg502Leu,ENST00000383832,NM_153635.2;BRPF1,upstream_gene_variant,,ENST00000383829,NM_001003694.1;BRPF1,upstream_gene_variant,,ENST00000424362,;BRPF1,upstream_gene_variant,,ENST00000302054,NM_004634.2;BRPF1,upstream_gene_variant,,ENST00000457855,;BRPF1,upstream_gene_variant,,ENST00000433861,;CPNE9,downstream_gene_variant,,ENST00000383831,;BRPF1,upstream_gene_variant,,ENST00000420291,;CPNE9,downstream_gene_variant,,ENST00000273027,;BRPF1,upstream_gene_variant,,ENST00000426583,;							MODERATE	1505/1662	R502L	CPNE9_HUMAN			Transcript		benign(0.275)	.	ENSP00000373343		CCDS2574.2			1	
SOD2	0	LGGM	GRCh37	6	160113671	160113671	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	17	3	.	.	ENST00000538183.2:c.226+22G>T		*76*	ENST00000538183	NM_000636.2			0	1	1	UPI000006D275	0		ENST00000538183		ENSG00000112096	11180		20			HGNC	p.R83L	rs781749021	SOD2		SNV			1				ENST00000546260	protein_coding							A		-/14266	7.71E-05			Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN			YES	SOD2,missense_variant,p.Arg83Leu,ENST00000452684,;SOD2,intron_variant,,ENST00000538183,NM_000636.2;SOD2,intron_variant,,ENST00000546087,;SOD2,intron_variant,,ENST00000337404,;SOD2,intron_variant,,ENST00000367055,NM_001024465.1;SOD2,intron_variant,,ENST00000444946,;SOD2,intron_variant,,ENST00000367054,NM_001024466.1;SOD2,intron_variant,,ENST00000545162,;SOD2,intron_variant,,ENST00000535561,;SOD2,intron_variant,,ENST00000401980,;SOD2,intron_variant,,ENST00000537657,;SOD2,non_coding_transcript_exon_variant,,ENST00000540491,;SOD2,upstream_gene_variant,,ENST00000541573,;SOD2,missense_variant,p.Arg83Leu,ENST00000546260,;SOD2,upstream_gene_variant,,ENST00000535459,;							MODIFIER	-/669		SODM_HUMAN			Transcript			.	ENSP00000446252	4.12E-05	CCDS5265.1			1	
C3	0	LGGM	GRCh37	19	6714448	6714448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	24	3	.	.	ENST00000245907.6:c.514G>T	p.Gly172Cys	p.G172C	ENST00000245907	NM_000064.2	172	Ggc/Tgc	0	1	1	UPI000013EC9B	0	getma.org/pdb.php?prot=CO3_HUMAN&from=129&to=224&var=G172C	ENST00000245907		ENSG00000125730	1318		27	3.68		HGNC	p.G172C		C3		SNV			1				ENST00000245907	protein_coding	getma.org/?cm=var&var=hg19,19,6714448,C,A&fts=all		Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81		G/C		A	high	607/5263		getma.org/?cm=msa&ty=f&p=CO3_HUMAN&rb=129&re=224&var=G172C	deleterious(0)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	C3,missense_variant,p.Gly172Cys,ENST00000245907,NM_000064.2;C3,downstream_gene_variant,,ENST00000600744,;C3,upstream_gene_variant,,ENST00000597442,;C3,upstream_gene_variant,,ENST00000594270,;C3,upstream_gene_variant,,ENST00000595577,;C3,downstream_gene_variant,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000600763,;							MODERATE	514/4992	G172C	CO3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000245907		CCDS32883.1			1	
MYH3	0	LGGM	GRCh37	17	10541579	10541579	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	28	3	.	.	ENST00000583535.1:c.3510G>T	p.Ala1170=	p.A1170=	ENST00000583535	NM_002470.3	1170	gcG/gcT	0	1	1	UPI000013C892	0		ENST00000583535		ENSG00000109063	7573		31			HGNC	p.A1170A		MYH3		SNV			1				ENST00000583535	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576		A		A		3598/6037							YES	MYH3,synonymous_variant,p.=,ENST00000583535,NM_002470.3;MYH3,synonymous_variant,p.=,ENST00000226209,;							LOW	3510/5823		MYH3_HUMAN			Transcript			.	ENSP00000464317		CCDS11157.1			1	
SPATA13	0	LGGM	GRCh37	13	24823894	24823894	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	3	.	.	ENST00000424834.2:c.1933C>A	p.Arg645=	p.R645=	ENST00000424834	NM_001286792.1	645	Cgg/Agg	0	1		UPI000007013B	0		ENST00000382095		ENSG00000182957	23222		33			HGNC	p.R645R		SPATA13		SNV							ENST00000382108	protein_coding					R		A		465/6665								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,upstream_gene_variant,,ENST00000434675,;SPATA13,upstream_gene_variant,,ENST00000494772,;SPATA13-AS1,downstream_gene_variant,,ENST00000430733,;SPATA13,downstream_gene_variant,,ENST00000474317,;RP11-307N16.6,intron_variant,,ENST00000382141,;							LOW	58/1959		SPT13_HUMAN			Transcript			.	ENSP00000371527		CCDS9305.1			1	
TENC1	0	LGGM	GRCh37	12	53456895	53456895	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000314276.3:c.3876C>A	p.Thr1292=	p.T1292=	ENST00000314276	NM_015319.2	1292	acC/acA	0	1		UPI000013F7A1	0		ENST00000314250		ENSG00000111077	19737		17			HGNC	p.T1185T		TENC1		SNV							ENST00000546602	protein_coding			hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21,Gene3D:2.30.29.30,Pfam_domain:PF08416,SMART_domains:SM00462,Superfamily_domains:SSF50729		T		A		4136/5010								TENC1,synonymous_variant,p.=,ENST00000314250,NM_170754.2;TENC1,synonymous_variant,p.=,ENST00000451358,;TENC1,synonymous_variant,p.=,ENST00000314276,NM_015319.2;TENC1,synonymous_variant,p.=,ENST00000379902,NM_198316.1;TENC1,synonymous_variant,p.=,ENST00000552570,;TENC1,synonymous_variant,p.=,ENST00000549700,;TENC1,synonymous_variant,p.=,ENST00000546602,;SPRYD3,downstream_gene_variant,,ENST00000301463,NM_032840.2;SPRYD3,downstream_gene_variant,,ENST00000547837,;TENC1,downstream_gene_variant,,ENST00000602335,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;TENC1,non_coding_transcript_exon_variant,,ENST00000552168,;TENC1,non_coding_transcript_exon_variant,,ENST00000550660,;TENC1,non_coding_transcript_exon_variant,,ENST00000550048,;SPRYD3,downstream_gene_variant,,ENST00000537540,;TENC1,downstream_gene_variant,,ENST00000546772,;SPRYD3,downstream_gene_variant,,ENST00000547257,;TENC1,downstream_gene_variant,,ENST00000547223,;TENC1,downstream_gene_variant,,ENST00000546759,;TENC1,downstream_gene_variant,,ENST00000551583,;TENC1,downstream_gene_variant,,ENST00000549789,;							LOW	3846/4230		TENC1_HUMAN			Transcript			.	ENSP00000319684		CCDS8843.1			1	
NLRP6	0	LGGM	GRCh37	11	281306	281306	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	10	3	.	.	ENST00000312165.5:c.1572C>T	p.Gly524=	p.G524=	ENST00000312165	NM_001276700.1	524	ggC/ggT	0	1	1	UPI00001AEFE1	0		ENST00000312165		ENSG00000174885	22944		13			HGNC	p.G524G		NLRP6		SNV							ENST00000312165	protein_coding			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3		G		T		1572/2679							YES	NLRP6,synonymous_variant,p.=,ENST00000534750,;NLRP6,synonymous_variant,p.=,ENST00000312165,NM_001276700.1,NM_138329.2;NLRP6,downstream_gene_variant,,ENST00000527946,;							LOW	1572/2679		NALP6_HUMAN			Transcript			.	ENSP00000309767		CCDS7693.1			1	
MYOF	0	LGGM	GRCh37	10	95148892	95148892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	3	.	.	ENST00000359263.4:c.1476G>T	p.Glu492Asp	p.E492D	ENST00000359263	NM_013451.3	492	gaG/gaT	0	1	1	UPI000012FBA1	0	NA	ENST00000359263		ENSG00000138119	3656		36	0.995		HGNC	p.E492D		MYOF		SNV							ENST00000371502	protein_coding	getma.org/?cm=var&var=hg19,10,95148892,C,A&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38		E/D		A	low	1476/6719		getma.org/?cm=msa&ty=f&p=MYOF_HUMAN&rb=459&re=658&var=E492D	tolerated(0.15)				YES	MYOF,missense_variant,p.Glu492Asp,ENST00000371501,;MYOF,missense_variant,p.Glu492Asp,ENST00000371502,;MYOF,missense_variant,p.Glu492Asp,ENST00000359263,NM_013451.3;MYOF,missense_variant,p.Glu479Asp,ENST00000358334,NM_133337.2;							MODERATE	1476/6186	E492D	MYOF_HUMAN			Transcript		benign(0.012)	.	ENSP00000352208		CCDS41551.1			1	
CLDN5	0	LGGM	GRCh37	22	19511638	19511638	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000406028.1:c.396G>T	p.Trp132Cys	p.W132C	ENST00000406028		132	tgG/tgT	0	1	1	UPI0000207B80	0	NA	ENST00000406028		ENSG00000184113	2047		17	3.625		HGNC	p.W132C		CLDN5		SNV							ENST00000403084	protein_coding	getma.org/?cm=var&var=hg19,22,19511638,C,A&fts=all		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF35,Pfam_domain:PF00822		W/C		A	high	1457/2548		getma.org/?cm=msa&ty=f&p=CLD5_HUMAN&rb=4&re=181&var=W47C	deleterious(0)	D3DX19_HUMAN			YES	CLDN5,missense_variant,p.Trp132Cys,ENST00000406028,;CLDN5,missense_variant,p.Trp132Cys,ENST00000403084,NM_001130861.1;CLDN5,missense_variant,p.Trp132Cys,ENST00000413119,NM_003277.3;CDC45,downstream_gene_variant,,ENST00000407835,;CDC45,downstream_gene_variant,,ENST00000437685,NM_001178010.2;CDC45,downstream_gene_variant,,ENST00000263201,NM_003504.4;CDC45,downstream_gene_variant,,ENST00000404724,NM_001178011.2;CDC45,downstream_gene_variant,,ENST00000493724,;							MODERATE	396/912	W47C	CLD5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000385477		CCDS13763.2			1	
ABCD2	0	LGGM	GRCh37	12	39997746	39997746	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	3	.	.	ENST00000308666.3:c.1468G>T	p.Gly490Ter	p.G490*	ENST00000308666	NM_005164.3	490	Gga/Tga	0	1	1	UPI000004C4C6	0	NA	ENST00000308666		ENSG00000173208	66		36	0		HGNC	p.G490X		ABCD2		SNV							ENST00000308666	protein_coding	getma.org/?cm=var&var=hg19,12,39997746,C,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,Superfamily_domains:SSF52540		G/*		A	NA	1604/6238		NA					YES	ABCD2,stop_gained,p.Gly490Ter,ENST00000308666,NM_005164.3;							HIGH	1468/2223	G490*	ABCD2_HUMAN			Transcript			.	ENSP00000310688		CCDS8734.1			1	
FLNC	0	LGGM	GRCh37	7	128486147	128486147	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000325888.8:c.3894C>A	p.Ala1298=	p.A1298=	ENST00000325888	NM_001458.4	1298	gcC/gcA	0	1	1	UPI000006DE6D	0		ENST00000325888		ENSG00000128591	3756		17			HGNC	p.A1298A		FLNC		SNV			1				ENST00000346177	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296		A		A		4155/9188				Q59H94_HUMAN,B3KM41_HUMAN			YES	FLNC,synonymous_variant,p.=,ENST00000325888,NM_001458.4;FLNC,synonymous_variant,p.=,ENST00000346177,NM_001127487.1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;FLNC,downstream_gene_variant,,ENST00000388853,;							LOW	3894/8178		FLNC_HUMAN			Transcript			.	ENSP00000327145		CCDS43644.1			1	
LIPE	0	LGGM	GRCh37	19	42909583	42909583	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	3	.	.	ENST00000244289.4:c.2496G>T	p.Leu832=	p.L832=	ENST00000244289	NM_005357.2	832	ctG/ctT	0	1	1	UPI000013CB66	0		ENST00000244289		ENSG00000079435	6621		17			HGNC	p.L832L		LIPE		SNV							ENST00000244289	protein_coding			hmmpanther:PTHR23025,hmmpanther:PTHR23025:SF3		L		A		2773/3813				M0QXM5_HUMAN,M0QXB1_HUMAN			YES	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,;							LOW	2496/3231		LIPS_HUMAN			Transcript			.	ENSP00000244289		CCDS12607.1			1	
PMM2	0	LGGM	GRCh37	16	8941584	8941584	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	13	3	.	.	ENST00000268261.4:c.643G>T	p.Gly215Cys	p.G215C	ENST00000268261	NM_000303.2	215	Ggc/Tgc	0	1	1	UPI00000302B7	0	getma.org/pdb.php?prot=PMM2_HUMAN&from=28&to=246&var=G215C	ENST00000268261		ENSG00000140650	9115		16	3.63		HGNC	p.G132C		PMM2		SNV			1				ENST00000539622	protein_coding	getma.org/?cm=var&var=hg19,16,8941584,G,T&fts=all		Gene3D:3.40.50.1000,Pfam_domain:PF03332,hmmpanther:PTHR10466,hmmpanther:PTHR10466:SF2,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01484		G/C		T	high	709/2313		getma.org/?cm=msa&ty=f&p=PMM2_HUMAN&rb=28&re=246&var=G215C	deleterious(0)	H3BV55_HUMAN,B7Z419_HUMAN			YES	PMM2,missense_variant,p.Gly215Cys,ENST00000268261,NM_000303.2;PMM2,missense_variant,p.Gly132Cys,ENST00000539622,;PMM2,missense_variant,p.Gly188Cys,ENST00000566983,;PMM2,missense_variant,p.Gly90Cys,ENST00000537352,;PMM2,missense_variant,p.Gly124Cys,ENST00000569958,;RP11-152P23.2,non_coding_transcript_exon_variant,,ENST00000567942,;RP11-77H9.2,upstream_gene_variant,,ENST00000565934,;PMM2,non_coding_transcript_exon_variant,,ENST00000562025,;PMM2,3_prime_UTR_variant,,ENST00000566540,;PMM2,3_prime_UTR_variant,,ENST00000570076,;PMM2,3_prime_UTR_variant,,ENST00000566604,;PMM2,3_prime_UTR_variant,,ENST00000562318,;PMM2,3_prime_UTR_variant,,ENST00000565221,;PMM2,non_coding_transcript_exon_variant,,ENST00000567697,;							MODERATE	643/741	G215C	PMM2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000268261		CCDS10536.1			1	
CNTROB	0	LGGM	GRCh37	17	7837536	7837536	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	3	.	.	ENST00000380262.3:c.351C>A	p.Ala117=	p.A117=	ENST00000380262	NM_001037144.5	117	gcC/gcA	0	1		UPI0000072872	0		ENST00000563694		ENSG00000170037	29616		32			HGNC	p.A19A		CNTROB		SNV							ENST00000575408	protein_coding					A		A		1276/3705				I3L465_HUMAN,I3L1Z8_HUMAN,I3L1B0_HUMAN				CNTROB,synonymous_variant,p.=,ENST00000380262,NM_001037144.5;CNTROB,synonymous_variant,p.=,ENST00000563694,NM_053051.3;CNTROB,synonymous_variant,p.=,ENST00000380255,;CNTROB,synonymous_variant,p.=,ENST00000565740,;CNTROB,synonymous_variant,p.=,ENST00000575408,;CNTROB,synonymous_variant,p.=,ENST00000576538,;KCNAB3,upstream_gene_variant,,ENST00000303790,NM_004732.3;TRAPPC1,upstream_gene_variant,,ENST00000303731,NM_021210.4;TRAPPC1,upstream_gene_variant,,ENST00000540486,NM_001166621.1;CNTROB,downstream_gene_variant,,ENST00000570782,;CNTROB,downstream_gene_variant,,ENST00000570784,;TRAPPC1,upstream_gene_variant,,ENST00000572656,;TRAPPC1,upstream_gene_variant,,ENST00000571947,;CNTROB,synonymous_variant,p.=,ENST00000571540,;CNTROB,upstream_gene_variant,,ENST00000571632,;KCNAB3,upstream_gene_variant,,ENST00000570587,;CNTROB,upstream_gene_variant,,ENST00000576922,;KCNAB3,upstream_gene_variant,,ENST00000570852,;CNTROB,upstream_gene_variant,,ENST00000576587,;CNTROB,upstream_gene_variant,,ENST00000574430,;TRAPPC1,upstream_gene_variant,,ENST00000571739,;TRAPPC1,upstream_gene_variant,,ENST00000575639,;TRAPPC1,upstream_gene_variant,,ENST00000573989,;RP11-1099M24.7,upstream_gene_variant,,ENST00000573621,;							LOW	351/2712		CNTRB_HUMAN			Transcript			.	ENSP00000456335		CCDS11126.1			1	
LANCL3	0	LGGM	GRCh37	X	37526580	37526580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	25	3	.	.	ENST00000378619.3:c.941C>A	p.Pro314Gln	p.P314Q	ENST00000378619	NM_001170331.1	314	cCg/cAg	0	1	1	UPI000059DAED	0	getma.org/pdb.php?prot=LANC3_HUMAN&from=60&to=418&var=P314Q	ENST00000378619		ENSG00000147036	24767		28	0.605		HGNC	p.P314Q		LANCL3		SNV							ENST00000378619	protein_coding	getma.org/?cm=var&var=hg19,X,37526580,C,A&fts=all		hmmpanther:PTHR12736,hmmpanther:PTHR12736:SF7,Gene3D:1.50.10.10,Pfam_domain:PF05147,Superfamily_domains:0053930,Prints_domain:PR01951		P/Q		A	neutral	1160/3063		getma.org/?cm=msa&ty=f&p=LANC3_HUMAN&rb=60&re=418&var=P314Q	tolerated(0.23)				YES	LANCL3,missense_variant,p.Pro314Gln,ENST00000378621,NM_198511.2;LANCL3,missense_variant,p.Pro314Gln,ENST00000378619,NM_001170331.1;TM4SF2,intron_variant,,ENST00000465127,;							MODERATE	941/1263	P314Q	LANC3_HUMAN			Transcript		benign(0.085)	.	ENSP00000367882		CCDS55398.1			1	
NINL	0	LGGM	GRCh37	20	25456923	25456923	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	3	.	.	ENST00000278886.6:c.3004G>T	p.Glu1002Ter	p.E1002*	ENST00000278886	NM_025176.4	1002	Gag/Tag	0	1	1	UPI0000206B64	0	NA	ENST00000278886		ENSG00000101004	29163		36	0		HGNC	p.E1002X		NINL		SNV							ENST00000278886	protein_coding	getma.org/?cm=var&var=hg19,20,25456923,C,A&fts=all		hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12,Low_complexity_(Seg):seg		E/*		A	NA	3078/4969		NA					YES	NINL,stop_gained,p.Glu1002Ter,ENST00000278886,NM_025176.4;NINL,intron_variant,,ENST00000422516,;NINL,intron_variant,,ENST00000336104,;							HIGH	3004/4149	E1002*	NINL_HUMAN			Transcript			.	ENSP00000278886		CCDS33452.1			1	
EVPL	0	LGGM	GRCh37	17	74019453	74019453	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	3	.	.	ENST00000301607.3:c.400C>A	p.Arg134Ser	p.R134S	ENST00000301607	NM_001988.2	134	Cgt/Agt	0	1	1	UPI000013E730	0	NA	ENST00000301607		ENSG00000167880	3503		36	1.59		HGNC	p.R134S		EVPL		SNV							ENST00000586740	protein_coding	getma.org/?cm=var&var=hg19,17,74019453,G,T&fts=all		hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7		R/S		T	low	654/6614		getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=1&re=200&var=R134S	deleterious(0)	K7EQ87_HUMAN			YES	EVPL,missense_variant,p.Arg134Ser,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Arg134Ser,ENST00000586740,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;							MODERATE	400/6102	R134S	EVPL_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000301607		CCDS11737.1			1	
TRAPPC4	0	LGGM	GRCh37	11	118889975	118889975	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	36	3	.	.	ENST00000533632.1:c.298C>A	p.Arg100=	p.R100=	ENST00000533632	NM_016146.4	100	Cgg/Agg	0	1	1	UPI0000052E23	0		ENST00000533632		ENSG00000196655	19943		39			HGNC	p.R100R		TRAPPC4		SNV							ENST00000533012	protein_coding			Superfamily_domains:SSF64356,Pfam_domain:PF04099,hmmpanther:PTHR23249,hmmpanther:PTHR23249:SF15		R		A		662/1759				G3V1A0_HUMAN			YES	TRAPPC4,synonymous_variant,p.=,ENST00000533632,NM_016146.4;TRAPPC4,synonymous_variant,p.=,ENST00000533058,;TRAPPC4,synonymous_variant,p.=,ENST00000359005,;TRAPPC4,intron_variant,,ENST00000434101,;TRAPPC4,intron_variant,,ENST00000525303,;TRAPPC4,intron_variant,,ENST00000528230,;CCDC84,downstream_gene_variant,,ENST00000334418,NM_198489.1;RPS25,upstream_gene_variant,,ENST00000527673,NM_001028.2;MIR3656,downstream_gene_variant,,ENST00000577421,;SLC37A4,downstream_gene_variant,,ENST00000525102,;CCDC84,downstream_gene_variant,,ENST00000580556,;TRAPPC4,upstream_gene_variant,,ENST00000526141,;RPS25,upstream_gene_variant,,ENST00000528547,;TRAPPC4,synonymous_variant,p.=,ENST00000533012,;TRAPPC4,synonymous_variant,p.=,ENST00000525079,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000531290,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000447216,;TRAPPC4,non_coding_transcript_exon_variant,,ENST00000527680,;TRAPPC4,upstream_gene_variant,,ENST00000524797,;CCDC84,downstream_gene_variant,,ENST00000527356,;RPS25,upstream_gene_variant,,ENST00000527853,;TRAPPC4,upstream_gene_variant,,ENST00000533149,;CCDC84,downstream_gene_variant,,ENST00000526463,;CCDC84,downstream_gene_variant,,ENST00000533787,;CCDC84,downstream_gene_variant,,ENST00000532132,;RPS25,upstream_gene_variant,,ENST00000524864,;RPS25,upstream_gene_variant,,ENST00000527791,;CCDC84,downstream_gene_variant,,ENST00000583842,;RPS25,upstream_gene_variant,,ENST00000532567,;							LOW	298/660		TPPC4_HUMAN			Transcript			.	ENSP00000436005		CCDS8407.1			1	
ADAM22	0	LGGM	GRCh37	7	87774508	87774508	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	32	3	.	.	ENST00000265727.7:c.1389G>T	p.Pro463=	p.P463=	ENST00000265727		463	ccG/ccT	0	1	1	UPI00001254DC	0		ENST00000265727		ENSG00000008277	201		35			HGNC	p.P463P		ADAM22		SNV							ENST00000265727	protein_coding			PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552		P		T		1468/2891				Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN			YES	ADAM22,synonymous_variant,p.=,ENST00000398204,NM_021723.3,NM_016351.4;ADAM22,synonymous_variant,p.=,ENST00000398209,NM_021722.4;ADAM22,synonymous_variant,p.=,ENST00000315984,;ADAM22,synonymous_variant,p.=,ENST00000265727,;ADAM22,synonymous_variant,p.=,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,synonymous_variant,p.=,ENST00000398203,;							LOW	1389/2721		ADA22_HUMAN			Transcript			.	ENSP00000265727		CCDS47637.1			1	
C6orf195	0	LGGM	GRCh37	6	2623943	2623943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	17	3	.	.	ENST00000296847.3:c.114G>T	p.Gln38His	p.Q38H	ENST00000296847	NM_152554.2	38	caG/caT	0	1	1	UPI000013E398	0	NA	ENST00000296847		ENSG00000164385	21600		20	0		HGNC	p.Q38H		C6orf195		SNV							ENST00000296847	protein_coding	getma.org/?cm=var&var=hg19,6,2623943,C,A&fts=all				Q/H		A	neutral	638/2434		getma.org/?cm=msa&ty=f&p=CF195_HUMAN&rb=1&re=127&var=Q38H	deleterious_low_confidence(0)				YES	C6orf195,missense_variant,p.Gln38His,ENST00000296847,NM_152554.2;							MODERATE	114/384	Q38H	CF195_HUMAN			Transcript		benign(0.387)	.	ENSP00000296847		CCDS43416.1			1	
MMP16	0	LGGM	GRCh37	8	89339306	89339306	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	20	3	.	.	ENST00000286614.6:c.130G>T	p.Glu44Ter	p.E44*	ENST00000286614	NM_005941.4	44	Gag/Tag	0	1	1	UPI000003DC73	0	NA	ENST00000286614		ENSG00000156103	7162		23	0		HGNC	p.E61X		MMP16		SNV							ENST00000522726	protein_coding	getma.org/?cm=var&var=hg19,8,89339306,C,A&fts=all		hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Pfam_domain:PF01471,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF47090		E/*		A	NA	412/11558		NA					YES	MMP16,stop_gained,p.Glu44Ter,ENST00000286614,NM_005941.4;MMP16,stop_gained,p.Glu61Ter,ENST00000522726,;RP11-586K2.1,non_coding_transcript_exon_variant,,ENST00000523254,;RP11-586K2.1,upstream_gene_variant,,ENST00000520849,;RP11-586K2.1,upstream_gene_variant,,ENST00000521433,;MMP16,splice_region_variant,,ENST00000544227,;MMP16,splice_region_variant,,ENST00000520568,;							HIGH	130/1824	E44*	MMP16_HUMAN			Transcript			.	ENSP00000286614		CCDS6246.1			1	
B4GALNT3	0	LGGM	GRCh37	12	662567	662567	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	27	3	.	.	ENST00000266383.5:c.1478G>T	p.Arg493Leu	p.R493L	ENST00000266383	NM_173593.3	493	cGg/cTg	0	1	1	UPI0000366851	0	NA	ENST00000266383		ENSG00000139044	24137		30	-0.345		HGNC	p.R493L		B4GALNT3		SNV							ENST00000266383	protein_coding	getma.org/?cm=var&var=hg19,12,662567,G,T&fts=all		hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF15		R/L		T	neutral	1491/5068		getma.org/?cm=msa&ty=f&p=B4GN3_HUMAN&rb=478&re=665&var=R493L	tolerated(0.1)				YES	B4GALNT3,missense_variant,p.Arg493Leu,ENST00000266383,NM_173593.3;B4GALNT3,missense_variant,p.Arg396Leu,ENST00000322843,;B4GALNT3,non_coding_transcript_exon_variant,,ENST00000535402,;							MODERATE	1478/2997	R493L	B4GN3_HUMAN			Transcript		benign(0.001)	.	ENSP00000266383		CCDS8504.1			1	
PRDM6	0	LGGM	GRCh37	5	122435399	122435399	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	2	3	.	.	ENST00000407847.4:c.643C>A	p.Pro215Thr	p.P215T	ENST00000407847	NM_001136239.1	215	Cca/Aca	0	1	1	UPI0001610E83	0	NA	ENST00000407847		ENSG00000061455	9350		5	0.895		HGNC	p.P215T		PRDM6		SNV							ENST00000407847	protein_coding	getma.org/?cm=var&var=hg19,5,122435399,C,A&fts=all		hmmpanther:PTHR11389:SF421,hmmpanther:PTHR11389		P/T		A	low	1057/9267		getma.org/?cm=msa&ty=f&p=PRDM6_HUMAN&rb=105&re=258&var=P215T	deleterious(0.02)				YES	PRDM6,missense_variant,p.Pro215Thr,ENST00000407847,NM_001136239.1;PRDM6,upstream_gene_variant,,ENST00000464424,;PRDM6,upstream_gene_variant,,ENST00000434521,;							MODERATE	643/1788	P215T	PRDM6_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000384725		CCDS47259.1			1	
NOS1	0	LGGM	GRCh37	12	117768410	117768410	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	31	3	.	.	ENST00000338101.4:c.465C>A	p.Pro155=	p.P155=	ENST00000338101		155	ccC/ccA	0	1		UPI0000130397	0		ENST00000317775		ENSG00000089250	7872		34			HGNC	p.P155P		NOS1		SNV			1				ENST00000344089	protein_coding			PIRSF_domain:PIRSF000333		P		T		1151/12158				B3VK56_HUMAN,A0PJJ7_HUMAN				NOS1,synonymous_variant,p.=,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,synonymous_variant,p.=,ENST00000344089,NM_001204213.1,NM_001204214.1;NOS1,synonymous_variant,p.=,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;							LOW	465/4305		NOS1_HUMAN			Transcript			.	ENSP00000320758		CCDS41842.1			1	
AP5M1	0	LGGM	GRCh37	14	57736054	57736054	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	25	3	.	.	ENST00000261558.3:c.22C>A	p.Leu8Ile	p.L8I	ENST00000261558	NM_018229.3	8	Ctc/Atc	0	1	1	UPI00000719DE	0	NA	ENST00000261558		ENSG00000053770	20192		28	1.265		HGNC	p.L8I		AP5M1		SNV							ENST00000555448	protein_coding	getma.org/?cm=var&var=hg19,14,57736054,C,A&fts=all		hmmpanther:PTHR16082,hmmpanther:PTHR16082:SF2		L/I		A	low	428/3074		getma.org/?cm=msa&ty=f&p=AP5M1_HUMAN&rb=1&re=200&var=L8I	tolerated(0.78)	H0YIY0_HUMAN,G3V573_HUMAN			YES	AP5M1,missense_variant,p.Leu8Ile,ENST00000261558,NM_018229.3;AP5M1,missense_variant,p.Leu8Ile,ENST00000431972,;AP5M1,intron_variant,,ENST00000556995,;EXOC5,upstream_gene_variant,,ENST00000413566,NM_006544.3;EXOC5,upstream_gene_variant,,ENST00000340918,;EXOC5,upstream_gene_variant,,ENST00000556318,;AP5M1,non_coding_transcript_exon_variant,,ENST00000554213,;AP5M1,missense_variant,p.Leu8Ile,ENST00000555448,;AP5M1,non_coding_transcript_exon_variant,,ENST00000554931,;EXOC5,upstream_gene_variant,,ENST00000555148,;EXOC5,upstream_gene_variant,,ENST00000554598,;EXOC5,upstream_gene_variant,,ENST00000555749,;							MODERATE	22/1473	L8I	AP5M1_HUMAN			Transcript		benign(0.105)	.	ENSP00000261558		CCDS9729.1			1	
KCNK15	0	LGGM	GRCh37	20	43378891	43378891	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	3	.	.	ENST00000372861.3:c.405G>T	p.Val135=	p.V135=	ENST00000372861	NM_022358.3	135	gtG/gtT	0	1	1	UPI000003EA1C	0		ENST00000372861		ENSG00000124249	13814		18			HGNC	p.V135V		KCNK15		SNV							ENST00000372861	protein_coding			PIRSF_domain:PIRSF038061,Prints_domain:PR01095,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF18,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324		V		T		536/1320							YES	KCNK15,synonymous_variant,p.=,ENST00000372861,NM_022358.3;RIMS4,downstream_gene_variant,,ENST00000372851,NM_001205317.1,NM_182970.3;RP11-445H22.4,upstream_gene_variant,,ENST00000427303,;RP11-445H22.4,upstream_gene_variant,,ENST00000445420,;							LOW	405/993		KCNKF_HUMAN			Transcript			.	ENSP00000361952		CCDS13337.1			1	
BTBD7	0	LGGM	GRCh37	14	93730224	93730224	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	24	3	.	.	ENST00000334746.5:c.1278C>A	p.Leu426=	p.L426=	ENST00000334746	NM_001002860.2	426	ctC/ctA	0	1	1	UPI00001FDA78	0		ENST00000334746		ENSG00000011114	18269		27			HGNC	p.L75L		BTBD7		SNV							ENST00000554565	protein_coding			Pfam_domain:PF07707,hmmpanther:PTHR16064,SMART_domains:SM00875		L		T		1586/8430				G3V2J4_HUMAN			YES	BTBD7,synonymous_variant,p.=,ENST00000334746,NM_001002860.2;BTBD7,synonymous_variant,p.=,ENST00000554565,;BTBD7,intron_variant,,ENST00000553975,;BTBD7,intron_variant,,ENST00000393170,;BTBD7,non_coding_transcript_exon_variant,,ENST00000554644,;BTBD7,intron_variant,,ENST00000355125,;							LOW	1278/3399		BTBD7_HUMAN			Transcript			.	ENSP00000335615		CCDS32146.1			1	
ALDH3A2	0	LGGM	GRCh37	17	19561134	19561134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	23	3	.	.	ENST00000339618.4:c.757C>A	p.Leu253Ile	p.L253I	ENST00000339618	NM_001031806.1	253	Ctc/Atc	0	1		UPI000012925F	0	getma.org/pdb.php?prot=AL3A2_HUMAN&from=2&to=424&var=L253I	ENST00000176643		ENSG00000072210	403		26	-0.645		HGNC	p.L84I		ALDH3A2		SNV			1				ENST00000571537	protein_coding	getma.org/?cm=var&var=hg19,17,19561134,C,A&fts=all		Gene3D:3.40.309.10,Pfam_domain:PF00171,PIRSF_domain:PIRSF036492,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF116,Superfamily_domains:SSF53720		L/I		A	neutral	1203/3928		getma.org/?cm=msa&ty=f&p=AL3A2_HUMAN&rb=2&re=424&var=L253I	tolerated(1)	Q59H65_HUMAN,K7EN73_HUMAN,J3KTG1_HUMAN,C9JGJ2_HUMAN				ALDH3A2,missense_variant,p.Leu253Ile,ENST00000176643,;ALDH3A2,missense_variant,p.Leu253Ile,ENST00000339618,NM_001031806.1;ALDH3A2,missense_variant,p.Leu253Ile,ENST00000395575,;ALDH3A2,missense_variant,p.Leu253Ile,ENST00000579855,NM_000382.2;ALDH3A2,missense_variant,p.Leu253Ile,ENST00000581518,;ALDH3A2,missense_variant,p.Leu84Ile,ENST00000571537,;ALDH3A2,missense_variant,p.Leu64Ile,ENST00000578696,;ALDH3A2,downstream_gene_variant,,ENST00000446398,;ALDH3A2,downstream_gene_variant,,ENST00000584332,;SNORA31,upstream_gene_variant,,ENST00000516540,;ALDH3A2,upstream_gene_variant,,ENST00000574078,;ALDH3A2,missense_variant,p.Leu253Ile,ENST00000582991,;ALDH3A2,3_prime_UTR_variant,,ENST00000472059,;ALDH3A2,non_coding_transcript_exon_variant,,ENST00000476965,;ALDH3A2,downstream_gene_variant,,ENST00000578614,;							MODERATE	757/1458	L253I	AL3A2_HUMAN			Transcript		benign(0.006)	.	ENSP00000176643		CCDS11210.1			1	
CCDC74B	0	LGGM	GRCh37	2	130899722	130899722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	31	3	.	.	ENST00000310463.6:c.528G>T	p.Lys176Asn	p.K176N	ENST00000310463	NM_207310.2	176	aaG/aaT	0	1	1	UPI000006D822	0	NA	ENST00000310463		ENSG00000152076	25267		34	2.175		HGNC	p.K110N		CCDC74B		SNV							ENST00000409488	protein_coding	getma.org/?cm=var&var=hg19,2,130899722,C,A&fts=all				K/N		A	medium	666/1549		getma.org/?cm=msa&ty=f&p=CC74B_HUMAN&rb=1&re=379&var=K176N	deleterious(0.05)				YES	CCDC74B,missense_variant,p.Lys278Asn,ENST00000392984,;CCDC74B,missense_variant,p.Lys176Asn,ENST00000310463,NM_207310.2;CCDC74B,missense_variant,p.Lys110Asn,ENST00000409943,NM_001258307.1;CCDC74B,missense_variant,p.Lys152Asn,ENST00000409128,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,3_prime_UTR_variant,,ENST00000423263,;CCDC74B,3_prime_UTR_variant,,ENST00000434929,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;							MODERATE	528/1143	K176N	CC74B_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000308873		CCDS2155.1			1	
UNC5A	0	LGGM	GRCh37	5	176304639	176304639	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	23	3	.	.	ENST00000329542.4:c.1570G>T	p.Gly524Trp	p.G524W	ENST00000329542	NM_133369.2	524	Ggg/Tgg	0	1	1	UPI0000047F37	0	getma.org/pdb.php?prot=UNC5A_HUMAN&from=439&to=541&var=G524W	ENST00000329542		ENSG00000113763	12567		26	0.695		HGNC	p.G524W		UNC5A		SNV							ENST00000329542	protein_coding	getma.org/?cm=var&var=hg19,5,176304639,G,T&fts=all		SMART_domains:SM00218,Pfam_domain:PF00791,hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582,PROSITE_profiles:PS51145		G/W		T	neutral	1844/3812		getma.org/?cm=msa&ty=f&p=UNC5A_HUMAN&rb=439&re=541&var=G524W	deleterious(0)				YES	UNC5A,missense_variant,p.Gly524Trp,ENST00000329542,NM_133369.2;UNC5A,missense_variant,p.Gly484Trp,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,;							MODERATE	1570/2529	G524W	UNC5A_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000332737		CCDS34299.1			1	
CASZ1	0	LGGM	GRCh37	1	10715750	10715750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	12	3	.	.	ENST00000377022.3:c.1621G>T	p.Gly541Cys	p.G541C	ENST00000377022	NM_001079843.2	541	Ggc/Tgc	0	1	1	UPI0000EBB7D6	0	NA	ENST00000377022		ENSG00000130940	26002		15	1.445		HGNC	p.G541C		CASZ1		SNV							ENST00000344008	protein_coding	getma.org/?cm=var&var=hg19,1,10715750,C,A&fts=all		hmmpanther:PTHR12451		G/C		A	low	1939/7936		getma.org/?cm=msa&ty=f&p=CASZ1_HUMAN&rb=401&re=600&var=G541C	deleterious(0)				YES	CASZ1,missense_variant,p.Gly541Cys,ENST00000377022,NM_001079843.2;CASZ1,missense_variant,p.Gly541Cys,ENST00000344008,NM_017766.4;RP4-734G22.3,downstream_gene_variant,,ENST00000606802,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,downstream_gene_variant,,ENST00000492173,;CASZ1,upstream_gene_variant,,ENST00000490176,;							MODERATE	1621/5280	G541C	CASZ1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000366221		CCDS41246.1			1	
PGAM5	0	LGGM	GRCh37	12	133294595	133294595	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	3	.	.	ENST00000498926.2:c.608G>T	p.Arg203Leu	p.R203L	ENST00000498926	NM_001170543.1	203	cGg/cTg	0	1	1	UPI0000406AB5	0	getma.org/pdb.php?prot=PGAM5_HUMAN&from=99&to=237&var=R203L	ENST00000498926		ENSG00000247077	28763		40	2.985		HGNC	p.R54L		PGAM5		SNV							ENST00000454808	protein_coding	getma.org/?cm=var&var=hg19,12,133294595,G,T&fts=all		hmmpanther:PTHR20935,Gene3D:3.40.50.1240,Pfam_domain:PF00300,SMART_domains:SM00855,Superfamily_domains:SSF53254		R/L		T	medium	666/2742		getma.org/?cm=msa&ty=f&p=PGAM5_HUMAN&rb=99&re=237&var=R203L	deleterious(0)	F5GXG4_HUMAN			YES	PGAM5,missense_variant,p.Arg203Leu,ENST00000498926,NM_001170543.1,NM_001170544.1;PGAM5,missense_variant,p.Arg54Leu,ENST00000543955,;PGAM5,missense_variant,p.Arg203Leu,ENST00000317555,NM_138575.3;PGAM5,missense_variant,p.Arg54Leu,ENST00000454808,;PXMP2,3_prime_UTR_variant,,ENST00000545677,;RP13-672B3.2,downstream_gene_variant,,ENST00000537262,;PGAM5,non_coding_transcript_exon_variant,,ENST00000541034,;							MODERATE	608/870	R203L	PGAM5_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000438465		CCDS53845.1			1	
RNF216	0	LGGM	GRCh37	7	5752438	5752438	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	24	3	.	.	ENST00000389902.3:c.1890G>T	p.Leu630=	p.L630=	ENST00000389902		630	ctG/ctT	0	1		UPI000013D69A	0		ENST00000425013		ENSG00000011275	21698		27			HGNC	p.L573L		RNF216		SNV			1				ENST00000425013	protein_coding			Superfamily_domains:SSF57850,hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF13		L		A		1944/5639				C9JIV3_HUMAN				RNF216,synonymous_variant,p.=,ENST00000425013,NM_207111.3,NM_207116.2;RNF216,synonymous_variant,p.=,ENST00000389902,;RNF216,non_coding_transcript_exon_variant,,ENST00000484458,;RNF216,3_prime_UTR_variant,,ENST00000389900,;							LOW	1719/2601		RN216_HUMAN			Transcript			.	ENSP00000404602		CCDS34595.1			1	
SLC41A1	0	LGGM	GRCh37	1	205779322	205779322	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	3	.	.	ENST00000367137.3:c.248G>T	p.Arg83Leu	p.R83L	ENST00000367137	NM_173854.4	83	cGt/cTt	0	1	1	UPI000013E1E6	0	NA	ENST00000367137		ENSG00000133065	19429		42	-0.16		HGNC	p.R83L		SLC41A1		SNV							ENST00000367137	protein_coding	getma.org/?cm=var&var=hg19,1,205779322,C,A&fts=all		hmmpanther:PTHR16228:SF23,hmmpanther:PTHR16228		R/L		A	neutral	1263/4997		getma.org/?cm=msa&ty=f&p=S41A1_HUMAN&rb=1&re=137&var=R83L	tolerated(0.23)	B2RMP2_HUMAN			YES	SLC41A1,missense_variant,p.Arg83Leu,ENST00000367137,NM_173854.4;SLC41A1,downstream_gene_variant,,ENST00000484000,;							MODERATE	248/1542	R83L	S41A1_HUMAN			Transcript		benign(0.018)	.	ENSP00000356105		CCDS30988.1			1	
PLEKHH1	0	LGGM	GRCh37	14	68047705	68047705	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	44	3	.	.	ENST00000329153.5:c.3234C>A	p.Pro1078=	p.P1078=	ENST00000329153	NM_020715.2	1078	ccC/ccA	0	1	1	UPI00001C1F64	0		ENST00000329153		ENSG00000054690	17733		47			HGNC	p.P1078P		PLEKHH1		SNV							ENST00000329153	protein_coding			PROSITE_profiles:PS50057,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,SMART_domains:SM00295		P		A		3366/6604				B3KWD2_HUMAN			YES	PLEKHH1,synonymous_variant,p.=,ENST00000329153,NM_020715.2;PLEKHH1,5_prime_UTR_variant,,ENST00000417684,;PIGH,downstream_gene_variant,,ENST00000561272,;PLEKHH1,synonymous_variant,p.=,ENST00000561370,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000560100,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558366,;PLEKHH1,upstream_gene_variant,,ENST00000559981,;PLEKHH1,downstream_gene_variant,,ENST00000558296,;PLEKHH1,upstream_gene_variant,,ENST00000559766,;PLEKHH1,upstream_gene_variant,,ENST00000561057,;							LOW	3234/4095		PKHH1_HUMAN			Transcript			.	ENSP00000330278		CCDS45128.1			1	
VPS28	0	LGGM	GRCh37	8	145651141	145651141	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	20	3	.	.	ENST00000377348.2:c.119C>A	p.Ala40Glu	p.A40E	ENST00000377348	NM_183057.2	40	gCa/gAa	0	1		UPI0000000B09	0	getma.org/pdb.php?prot=VPS28_HUMAN&from=39&to=220&var=A40E	ENST00000292510		ENSG00000160948	18178		23	3.69		HGNC	p.A40E		VPS28		SNV							ENST00000531032	protein_coding	getma.org/?cm=var&var=hg19,8,145651141,G,T&fts=all		PROSITE_profiles:PS51313,hmmpanther:PTHR12937,Pfam_domain:PF03997,PIRSF_domain:PIRSF017535,Superfamily_domains:SSF140111		A/E		T	high	209/944		getma.org/?cm=msa&ty=f&p=VPS28_HUMAN&rb=39&re=220&var=A40E	deleterious(0)	Q548N1_HUMAN,E9PR04_HUMAN,E9PQR7_HUMAN,E9PLM9_HUMAN,E9PI55_HUMAN				VPS28,missense_variant,p.Ala40Glu,ENST00000377348,NM_183057.2;VPS28,missense_variant,p.Ala40Glu,ENST00000529182,;VPS28,missense_variant,p.Ala40Glu,ENST00000292510,NM_016208.3;VPS28,missense_variant,p.Ala40Glu,ENST00000526054,;VPS28,missense_variant,p.Ala40Glu,ENST00000533806,;VPS28,missense_variant,p.Ala40Glu,ENST00000531032,;VPS28,missense_variant,p.Ala40Glu,ENST00000530790,;TONSL,downstream_gene_variant,,ENST00000409379,NM_013432.4;VPS28,non_coding_transcript_exon_variant,,ENST00000526734,;VPS28,downstream_gene_variant,,ENST00000524521,;VPS28,missense_variant,p.Ala40Glu,ENST00000527797,;VPS28,3_prime_UTR_variant,,ENST00000530983,;VPS28,3_prime_UTR_variant,,ENST00000526204,;VPS28,3_prime_UTR_variant,,ENST00000526977,;VPS28,3_prime_UTR_variant,,ENST00000530836,;VPS28,non_coding_transcript_exon_variant,,ENST00000528142,;VPS28,non_coding_transcript_exon_variant,,ENST00000531924,;TONSL,downstream_gene_variant,,ENST00000497613,;							MODERATE	119/666	A40E	VPS28_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000292510		CCDS6425.1			1	
PASK	0	LGGM	GRCh37	2	242078187	242078187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	11	3	.	.	ENST00000358649.4:c.623G>T	p.Gly208Val	p.G208V	ENST00000358649		208	gGg/gTg	0	1		UPI000013C995	0	getma.org/pdb.php?prot=PASK_HUMAN&from=131&to=237&var=G208V	ENST00000234040		ENSG00000115687	17270		14	2.31		HGNC	p.G208V		PASK		SNV							ENST00000405260	protein_coding	getma.org/?cm=var&var=hg19,2,242078187,C,A&fts=all		hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF2,Gene3D:3.30.450.20,TIGRFAM_domain:TIGR00229,Pfam_domain:PF13426,Superfamily_domains:SSF55785		G/V		A	medium	756/4572		getma.org/?cm=msa&ty=f&p=PASK_HUMAN&rb=131&re=237&var=G208V	deleterious(0)	Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN,B7Z7V7_HUMAN				PASK,missense_variant,p.Gly208Val,ENST00000403638,NM_001252124.1;PASK,missense_variant,p.Gly208Val,ENST00000405260,NM_001252120.1;PASK,missense_variant,p.Gly208Val,ENST00000234040,NM_001252119.1,NM_001252122.1,NM_015148.3;PASK,missense_variant,p.Gly208Val,ENST00000358649,;PASK,missense_variant,p.Gly22Val,ENST00000544142,;PASK,missense_variant,p.Gly23Val,ENST00000433589,;PASK,5_prime_UTR_variant,,ENST00000539818,;PASK,5_prime_UTR_variant,,ENST00000415234,;PASK,downstream_gene_variant,,ENST00000452907,;PASK,3_prime_UTR_variant,,ENST00000437780,;PASK,non_coding_transcript_exon_variant,,ENST00000485940,;PASK,upstream_gene_variant,,ENST00000493544,;							MODERATE	623/3972	G208V	PASK_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000234040		CCDS2545.1			1	
FGD1	0	LGGM	GRCh37	X	54492246	54492246	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	13	3	.	.	ENST00000375135.3:c.1380G>T	p.Leu460=	p.L460=	ENST00000375135	NM_004463.2	460	ctG/ctT	0	1	1	UPI000012A705	0		ENST00000375135		ENSG00000102302	3663		16			HGNC	p.L460L		FGD1		SNV			1				ENST00000375135	protein_coding			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79,SMART_domains:SM00325,Superfamily_domains:SSF48065		L		A		2114/4275							YES	FGD1,synonymous_variant,p.=,ENST00000375135,NM_004463.2;							LOW	1380/2886		FGD1_HUMAN			Transcript			.	ENSP00000364277		CCDS14359.1			1	
GBP2	0	LGGM	GRCh37	1	89578368	89578368	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	4	.	.	ENST00000370466.3:c.1150-1G>T		p.X384_splice	ENST00000370466	NM_004120.4			0	1	1	UPI000013E19F	0		ENST00000370466		ENSG00000162645	4183		44			HGNC	-		GBP2		SNV							ENST00000464839	protein_coding							A		-/2220				Q8TCE5_HUMAN			YES	GBP2,splice_acceptor_variant,,ENST00000370466,NM_004120.4;GBP2,splice_acceptor_variant,,ENST00000463660,;GBP2,splice_acceptor_variant,,ENST00000493802,;GBP2,splice_acceptor_variant,,ENST00000464839,;							HIGH	1150/1776		GBP2_HUMAN			Transcript			.	ENSP00000359497		CCDS719.1			1	
DAGLA	0	LGGM	GRCh37	11	61511623	61511623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	44	4	.	.	ENST00000257215.5:c.2791C>A	p.Gln931Lys	p.Q931K	ENST00000257215	NM_006133.2	931	Caa/Aaa	0	1	1	UPI00001678B3	0	NA	ENST00000257215		ENSG00000134780	1165		48	0.695		HGNC	p.Q931K		DAGLA		SNV			1				ENST00000257215	protein_coding	getma.org/?cm=var&var=hg19,11,61511623,C,A&fts=all				Q/K		A	neutral	2907/5757		getma.org/?cm=msa&ty=f&p=DGLA_HUMAN&rb=723&re=1040&var=Q931K	tolerated_low_confidence(0.11)				YES	DAGLA,missense_variant,p.Gln931Lys,ENST00000257215,NM_006133.2;RP11-467L20.10,downstream_gene_variant,,ENST00000536405,;RP11-467L20.10,downstream_gene_variant,,ENST00000541891,;DAGLA,3_prime_UTR_variant,,ENST00000540717,;							MODERATE	2791/3129	Q931K	DGLA_HUMAN			Transcript		benign(0.031)	.	ENSP00000257215		CCDS31578.1			1	
EPS8	0	LGGM	GRCh37	12	15777212	15777212	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	4	.	.	ENST00000281172.5:c.2174C>A	p.Ser725Tyr	p.S725Y	ENST00000281172	NM_004447.5	725	tCc/tAc	0	1	1	UPI000012A0BC	0	getma.org/pdb.php?prot=EPS8_HUMAN&from=583&to=782&var=S725Y	ENST00000281172		ENSG00000151491	3420		22	2.845		HGNC	p.S725Y		EPS8		SNV			1				ENST00000543523	protein_coding	getma.org/?cm=var&var=hg19,12,15777212,G,T&fts=all		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF21		S/Y		T	medium	2611/4061		getma.org/?cm=msa&ty=f&p=EPS8_HUMAN&rb=583&re=782&var=S725Y	deleterious(0)	F5H3Q6_HUMAN,F5H2B8_HUMAN,F5H1B5_HUMAN,F5GYM8_HUMAN,B4DX66_HUMAN			YES	EPS8,missense_variant,p.Ser725Tyr,ENST00000281172,NM_004447.5;EPS8,missense_variant,p.Ser725Tyr,ENST00000543523,;EPS8,missense_variant,p.Ser725Tyr,ENST00000543612,;EPS8,missense_variant,p.Ser465Tyr,ENST00000540613,;EPS8,missense_variant,p.Ser465Tyr,ENST00000542903,;EPS8,3_prime_UTR_variant,,ENST00000543468,;EPS8,non_coding_transcript_exon_variant,,ENST00000545610,;							MODERATE	2174/2469	S725Y	EPS8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000281172		CCDS31753.1			1	
ZNF217	0	LGGM	GRCh37	20	52192618	52192618	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	4	.	.	ENST00000371471.2:c.2685G>T	p.Pro895=	p.P895=	ENST00000371471		895	ccG/ccT	0	1		UPI000013C323	0		ENST00000302342		ENSG00000171940	13009		34			HGNC	p.P895P		ZNF217		SNV							ENST00000371471	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6		P		A		2956/5633				A2A326_HUMAN				ZNF217,synonymous_variant,p.=,ENST00000371471,;ZNF217,synonymous_variant,p.=,ENST00000302342,NM_006526.2;ZNF217,upstream_gene_variant,,ENST00000437222,;RP4-724E16.2,downstream_gene_variant,,ENST00000424252,;							LOW	2685/3147		ZN217_HUMAN			Transcript			.	ENSP00000304308		CCDS13443.1			1	
CDH1	0	LGGM	GRCh37	16	68855981	68855981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	75	4	.	.	ENST00000261769.5:c.1789C>A	p.Pro597Thr	p.P597T	ENST00000261769	NM_004360.3	597	Cct/Act	0	1	1	UPI00000341EF	0	getma.org/pdb.php?prot=CADH1_HUMAN&from=594&to=697&var=P597T	ENST00000261769	uncertain_significance	ENSG00000039068	1748		79	3.095		HGNC	p.P536T	rs201625049	CDH1		SNV			1			1	ENST00000422392	protein_coding	getma.org/?cm=var&var=hg19,16,68855981,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		P/T		A	medium	1980/4889		getma.org/?cm=msa&ty=f&p=CADH1_HUMAN&rb=594&re=697&var=P597T	deleterious(0)	B3GN61_HUMAN			YES	CDH1,missense_variant,p.Pro597Thr,ENST00000261769,NM_004360.3;CDH1,missense_variant,p.Pro536Thr,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,;							MODERATE	1789/2649	P597T	CADH1_HUMAN			Transcript		possibly_damaging(0.527)	.	ENSP00000261769		CCDS10869.1			1	
KAT6B	0	LGGM	GRCh37	10	76735314	76735314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	45	4	.	.	ENST00000287239.4:c.1219C>A	p.Pro407Thr	p.P407T	ENST00000287239	NM_001256468.1	407	Cct/Act	0	1	1	UPI000013DEA0	0	NA	ENST00000287239		ENSG00000156650	17582		49	0		HGNC	p.P407T		KAT6B		SNV			1				ENST00000372711	protein_coding	getma.org/?cm=var&var=hg19,10,76735314,C,A&fts=all		hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615		P/T		A	neutral	1708/8287		getma.org/?cm=msa&ty=f&p=KAT6B_HUMAN&rb=401&re=600&var=P407T					YES	KAT6B,missense_variant,p.Pro407Thr,ENST00000287239,NM_001256468.1,NM_012330.3;KAT6B,missense_variant,p.Pro407Thr,ENST00000372711,;KAT6B,intron_variant,,ENST00000372724,NM_001256469.1;KAT6B,intron_variant,,ENST00000372725,;KAT6B,intron_variant,,ENST00000372714,;KAT6B,upstream_gene_variant,,ENST00000490365,;							MODERATE	1219/6222	P407T	KAT6B_HUMAN			Transcript		benign(0.097)	.	ENSP00000287239		CCDS7345.1			1	
BPHL	0	LGGM	GRCh37	6	3140646	3140646	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	66	4	.	.	ENST00000380379.5:c.691C>A	p.Arg231=	p.R231=	ENST00000380379	NM_004332.2	231	Cgg/Agg	0	1	1	UPI000000DC96	0		ENST00000380379		ENSG00000137274	1094		70			HGNC	p.R214R		BPHL		SNV							ENST00000434640	protein_coding			hmmpanther:PTHR10992:SF772,hmmpanther:PTHR10992,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		R		A		740/1928							YES	BPHL,synonymous_variant,p.=,ENST00000380375,;BPHL,synonymous_variant,p.=,ENST00000380379,NM_004332.2;BPHL,synonymous_variant,p.=,ENST00000434640,;BPHL,3_prime_UTR_variant,,ENST00000380368,;BPHL,upstream_gene_variant,,ENST00000423798,;RP1-40E16.11,intron_variant,,ENST00000447644,;BPHL,3_prime_UTR_variant,,ENST00000430655,;BPHL,3_prime_UTR_variant,,ENST00000424847,;BPHL,3_prime_UTR_variant,,ENST00000433912,;BPHL,non_coding_transcript_exon_variant,,ENST00000490918,;BPHL,non_coding_transcript_exon_variant,,ENST00000488487,;							LOW	691/876		BPHL_HUMAN			Transcript			.	ENSP00000369739		CCDS4483.2			1	
RAB6A	0	LGGM	GRCh37	11	73390736	73390736	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	86	4	.	.	ENST00000310653.6:c.525G>T	p.Pro175=	p.P175=	ENST00000310653	NM_002869.4	175	ccG/ccT	0	1		UPI0000037BDB	0		ENST00000336083		ENSG00000175582	9786		90			HGNC	p.P175P	rs367629903	RAB6A		SNV	T:0			9.61E-05			ENST00000310653	protein_coding			Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF421,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540		P	T:0.0003	A		981/3085				Q9UL29_HUMAN,C9JB90_HUMAN,B7Z5Z9_HUMAN				RAB6A,synonymous_variant,p.=,ENST00000310653,NM_002869.4,NM_001077637.1;RAB6A,synonymous_variant,p.=,ENST00000336083,NM_198896.1;RAB6A,synonymous_variant,p.=,ENST00000541973,;RAB6A,synonymous_variant,p.=,ENST00000536566,NM_001243719.1;RAB6A,synonymous_variant,p.=,ENST00000541588,NM_001243718.1;RAB6A,synonymous_variant,p.=,ENST00000540771,;RAB6A,3_prime_UTR_variant,,ENST00000537446,;RAB6A,intron_variant,,ENST00000545625,;							LOW	525/627		RAB6A_HUMAN			Transcript			.	ENSP00000336850	8.24E-06	CCDS8224.1			1	
ZFYVE27	0	LGGM	GRCh37	10	99509261	99509261	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	4	.	.	ENST00000356257.4:c.582C>A	p.Cys194Ter	p.C194*	ENST00000356257	NM_001002261.3	194	tgC/tgA	0	1		UPI00003FE525	0	NA	ENST00000393677		ENSG00000155256	26559		19	0		HGNC	p.C194X		ZFYVE27		SNV			1				ENST00000356257	protein_coding	getma.org/?cm=var&var=hg19,10,99509261,C,A&fts=all		hmmpanther:PTHR14543,Transmembrane_helices:TMhelix		C/*		A	NA	786/3047		NA						ZFYVE27,stop_gained,p.Cys194Ter,ENST00000393677,NM_144588.6;ZFYVE27,stop_gained,p.Cys194Ter,ENST00000359980,NM_001002262.3;ZFYVE27,stop_gained,p.Cys162Ter,ENST00000337540,NM_001174119.1;ZFYVE27,stop_gained,p.Cys194Ter,ENST00000356257,NM_001002261.3;ZFYVE27,stop_gained,p.Cys172Ter,ENST00000423811,;ZFYVE27,stop_gained,p.Cys96Ter,ENST00000370610,NM_001174121.1;ZFYVE27,stop_gained,p.Cys108Ter,ENST00000357540,NM_001174120.1;ZFYVE27,stop_gained,p.Cys76Ter,ENST00000370613,NM_001174122.1;ZFYVE27,stop_gained,p.Cys194Ter,ENST00000453958,;ZFYVE27,upstream_gene_variant,,ENST00000481956,;							HIGH	582/1236	C194*	ZFY27_HUMAN			Transcript			.	ENSP00000377282		CCDS31263.1			1	
FBXW10B	0	LGGM	GRCh37	17	15469521	15469521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	49	4	.	.	ENST00000312127.2:c.58G>T	p.Gly20Trp	p.G20W	ENST00000312127		20	Ggg/Tgg	0	1	1	UPI000006E357	0		ENST00000312127		ENSG00000181464	14379		53			Uniprot_gn	p.G20W		CDRT1		SNV							ENST00000312127	protein_coding			hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7		G/W		A		70/794			deleterious(0)	Q9BXD7_HUMAN			YES	CDRT1,missense_variant,p.Gly20Trp,ENST00000312127,;CDRT1,3_prime_UTR_variant,,ENST00000472534,;TVP23C,upstream_gene_variant,,ENST00000584811,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000522212,NM_001204478.1;TVP23C,upstream_gene_variant,,ENST00000428082,NM_001135036.1;TVP23C,upstream_gene_variant,,ENST00000438826,;TVP23C,upstream_gene_variant,,ENST00000225576,NM_145301.2;TVP23C,upstream_gene_variant,,ENST00000518321,;TVP23C,upstream_gene_variant,,ENST00000519970,;TVP23C,upstream_gene_variant,,ENST00000419890,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000557349,;TVP23C,upstream_gene_variant,,ENST00000523573,;TVP23C,upstream_gene_variant,,ENST00000521179,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000481756,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000518506,;							MODERATE	58/732					Transcript		probably_damaging(0.997)	.	ENSP00000385268					1	
TMEM79	0	LGGM	GRCh37	1	156256117	156256117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	62	4	.	.	ENST00000405535.2:c.824G>T	p.Arg275Leu	p.R275L	ENST00000405535	NM_032323.2	275	cGg/cTg	0	1		UPI000006F977	0	NA	ENST00000295694		ENSG00000163472	28196		66	0.895		HGNC	p.R275L		TMEM79		SNV							ENST00000405535	protein_coding	getma.org/?cm=var&var=hg19,1,156256117,G,T&fts=all		Gene3D:1.20.120.550,hmmpanther:PTHR31004,hmmpanther:PTHR31004:SF0		R/L		T	low	985/2191		getma.org/?cm=msa&ty=f&p=TMM79_HUMAN&rb=258&re=364&var=R275L	tolerated(0.06)					TMEM79,missense_variant,p.Arg275Leu,ENST00000405535,NM_032323.2;TMEM79,missense_variant,p.Arg275Leu,ENST00000295694,;TMEM79,synonymous_variant,p.=,ENST00000357501,;TMEM79,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000485135,;C1orf85,downstream_gene_variant,,ENST00000497831,;C1orf85,downstream_gene_variant,,ENST00000480968,;C1orf85,downstream_gene_variant,,ENST00000472870,;C1orf85,downstream_gene_variant,,ENST00000461597,;							MODERATE	824/1185	R275L	TMM79_HUMAN			Transcript		benign(0.301)	.	ENSP00000295694		CCDS1138.1			1	
MARK1	0	LGGM	GRCh37	1	220826620	220826620	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	48	4	.	.	ENST00000366917.4:c.1914G>T	p.Thr638=	p.T638=	ENST00000366917	NM_001286124.1	638	acG/acT	0	1	1	UPI0000048D8B	0		ENST00000366917		ENSG00000116141	6896		52			HGNC	p.T638T	rs754469303	MARK1		SNV							ENST00000366917	protein_coding			hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346		T		T		2180/2946				B4DIB3_HUMAN			YES	MARK1,synonymous_variant,p.=,ENST00000402574,NM_018650.3,NM_001286126.1;MARK1,synonymous_variant,p.=,ENST00000366918,NM_001286128.1;MARK1,synonymous_variant,p.=,ENST00000366917,NM_001286124.1;	0.000116						LOW	1914/2388		MARK1_HUMAN			Transcript			.	ENSP00000355884	8.24E-06	CCDS31029.2			1	
PHEX	0	LGGM	GRCh37	X	22056636	22056636	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	84	4	.	.	ENST00000379374.4:c.168G>T	p.Lys56Asn	p.K56N	ENST00000379374	NM_000444.4	56	aaG/aaT	0	1	1	UPI0000033C42	0	NA	ENST00000379374		ENSG00000102174	8918		88	0.345		HGNC	p.K56N		PHEX		SNV			1				ENST00000379374	protein_coding	getma.org/?cm=var&var=hg19,X,22056636,G,T&fts=all		Superfamily_domains:SSF55486,hmmpanther:PTHR11733:SF117,hmmpanther:PTHR11733		K/N		T	neutral	733/6172		getma.org/?cm=msa&ty=f&p=PHEX_HUMAN&rb=1&re=76&var=K56N	deleterious(0.02)	D1LZJ7_HUMAN,B4DWG8_HUMAN			YES	PHEX,missense_variant,p.Lys56Asn,ENST00000379374,NM_000444.4;PHEX,missense_variant,p.Lys56Asn,ENST00000537599,;PHEX,5_prime_UTR_variant,,ENST00000535894,;							MODERATE	168/2250	K56N	PHEX_HUMAN			Transcript		benign(0)	.	ENSP00000368682		CCDS14204.1			1	
UNC5C	0	LGGM	GRCh37	4	96163688	96163688	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	11	4	.	.	ENST00000453304.1:c.1000C>A	p.His334Asn	p.H334N	ENST00000453304	NM_003728.3	334	Cac/Aac	0	1	1	UPI000004E6A5	0	getma.org/pdb.php?prot=UNC5C_HUMAN&from=317&to=367&var=H334N	ENST00000453304		ENSG00000182168	12569		15	2.535		HGNC	p.H334N		UNC5C		SNV							ENST00000506749	protein_coding	getma.org/?cm=var&var=hg19,4,96163688,G,T&fts=all		Superfamily_domains:SSF82895,SMART_domains:SM00209,Gene3D:2.20.100.10,Pfam_domain:PF00090,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7,PROSITE_profiles:PS50092		H/N		T	medium	1349/9875		getma.org/?cm=msa&ty=f&p=UNC5C_HUMAN&rb=317&re=367&var=H334N	tolerated(0.05)	Q4W5H4_HUMAN			YES	UNC5C,missense_variant,p.His334Asn,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.His334Asn,ENST00000513796,;UNC5C,missense_variant,p.His334Asn,ENST00000506749,;							MODERATE	1000/2796	H334N	UNC5C_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000406022		CCDS3643.1			1	
ICK	0	LGGM	GRCh37	6	52906004	52906004	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	68	4	.	.	ENST00000356971.3:c.31G>T	p.Gly11Trp	p.G11W	ENST00000356971	NM_016513.4	11	Ggg/Tgg	0	1		UPI0000073DE8	0	getma.org/pdb.php?prot=ICK_HUMAN&from=4&to=284&var=G11W	ENST00000350082		ENSG00000112144	21219		72	3.875		HGNC	p.G11W		ICK		SNV			1				ENST00000356971	protein_coding	getma.org/?cm=var&var=hg19,6,52906004,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF150,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/W		A	high	378/6116		getma.org/?cm=msa&ty=f&p=ICK_HUMAN&rb=4&re=284&var=G11W	deleterious(0)					ICK,missense_variant,p.Gly11Trp,ENST00000356971,NM_016513.4;ICK,missense_variant,p.Gly11Trp,ENST00000350082,NM_014920.3;							MODERATE	31/1899	G11W	ICK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263043		CCDS4949.1			1	
KRIT1	0	LGGM	GRCh37	7	91867041	91867041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	42	4	.	.	ENST00000394507.1:c.295C>A	p.Leu99Met	p.L99M	ENST00000394507	NM_194456.1	99	Ctg/Atg	0	1		UPI000006F5AA	0	NA	ENST00000340022		ENSG00000001631	1573		46	0.975		HGNC	p.L99M		KRIT1		SNV			1				ENST00000394503	protein_coding	getma.org/?cm=var&var=hg19,7,91867041,G,T&fts=all		hmmpanther:PTHR13283		L/M		T	low	1314/4553		getma.org/?cm=msa&ty=f&p=KRIT1_HUMAN&rb=1&re=200&var=L99M	tolerated(0.07)	C9JXI9_HUMAN,C9JSG7_HUMAN,C9JJM9_HUMAN,C9JI47_HUMAN,C9JF32_HUMAN,C9JEW7_HUMAN,C9JD81_HUMAN,C9JBN7_HUMAN,C9J718_HUMAN,C9J3W7_HUMAN,A4D1F7_HUMAN				KRIT1,missense_variant,p.Leu99Met,ENST00000394507,NM_194456.1;KRIT1,missense_variant,p.Leu99Met,ENST00000340022,NM_004912.3,NM_194455.1;KRIT1,missense_variant,p.Leu99Met,ENST00000412043,;KRIT1,missense_variant,p.Leu99Met,ENST00000394505,NM_194454.1;KRIT1,missense_variant,p.Leu99Met,ENST00000394503,NM_001013406.1;KRIT1,missense_variant,p.Leu99Met,ENST00000458177,;KRIT1,missense_variant,p.Leu99Met,ENST00000454017,;KRIT1,missense_variant,p.Leu99Met,ENST00000433016,;KRIT1,missense_variant,p.Leu99Met,ENST00000440209,;KRIT1,downstream_gene_variant,,ENST00000444960,;KRIT1,downstream_gene_variant,,ENST00000430102,;KRIT1,downstream_gene_variant,,ENST00000452773,;KRIT1,downstream_gene_variant,,ENST00000425919,;KRIT1,upstream_gene_variant,,ENST00000445516,;KRIT1,downstream_gene_variant,,ENST00000413688,;KRIT1,downstream_gene_variant,,ENST00000425073,;KRIT1,downstream_gene_variant,,ENST00000458493,;KRIT1,downstream_gene_variant,,ENST00000422347,;KRIT1,non_coding_transcript_exon_variant,,ENST00000486261,;KRIT1,upstream_gene_variant,,ENST00000475770,;KRIT1,downstream_gene_variant,,ENST00000470309,;							MODERATE	295/2211	L99M	KRIT1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000344668		CCDS5624.1			1	
MFAP4	0	LGGM	GRCh37	17	19290429	19290429	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	4	.	.	ENST00000395592.2:c.3G>T	p.Met1?	p.M1?	ENST00000395592	NM_001198695.1	1	atG/atT	0	1		UPI000012F031	0	NA	ENST00000299610		ENSG00000166482	7035		19	0		HGNC	p.M1I		MFAP4		SNV							ENST00000395592	protein_coding	getma.org/?cm=var&var=hg19,17,19290429,C,A&fts=all						A	NA	-/1873		http://getma.org/?cm=msa&ty=f&p=B4E317_HUMAN&rb=1&re=60&var=M1I						MFAP4,start_lost,p.Met1?,ENST00000395592,NM_001198695.1;MFAP4,intron_variant,,ENST00000299610,NM_002404.2;MAPK7,downstream_gene_variant,,ENST00000308406,NM_139033.2;MAPK7,downstream_gene_variant,,ENST00000395604,NM_002749.3;MAPK7,downstream_gene_variant,,ENST00000395602,NM_139034.2;MAPK7,downstream_gene_variant,,ENST00000299612,NM_139032.2;MFAP4,upstream_gene_variant,,ENST00000497081,;MAPK7,downstream_gene_variant,,ENST00000571657,;MFAP4,upstream_gene_variant,,ENST00000574313,;MFAP4,intron_variant,,ENST00000571210,;MAPK7,downstream_gene_variant,,ENST00000570306,;MAPK7,downstream_gene_variant,,ENST00000490660,;							MODIFIER	-/768	M1I	MFAP4_HUMAN			Transcript			.	ENSP00000299610		CCDS11208.1			1	
TMEM8A	0	LGGM	GRCh37	16	425421	425421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	4	.	.	ENST00000431232.2:c.1239C>A	p.Asn413Lys	p.N413K	ENST00000431232	NM_021259.2	413	aaC/aaA	0	1	1	UPI000013CCD4	0	NA	ENST00000431232		ENSG00000129925	17205		20	1.01		HGNC	p.N413K		TMEM8A		SNV							ENST00000431232	protein_coding	getma.org/?cm=var&var=hg19,16,425421,G,T&fts=all		hmmpanther:PTHR14319,hmmpanther:PTHR14319:SF7		N/K		T	low	1400/3691		getma.org/?cm=msa&ty=f&p=TMM8A_HUMAN&rb=401&re=540&var=N413K	tolerated(0.17)	K4DI83_HUMAN,C9J8D7_HUMAN			YES	TMEM8A,missense_variant,p.Asn413Lys,ENST00000431232,NM_021259.2;TMEM8A,missense_variant,p.Asn220Lys,ENST00000250930,;MRPL28,upstream_gene_variant,,ENST00000199706,NM_006428.4;MRPL28,upstream_gene_variant,,ENST00000389675,;TMEM8A,upstream_gene_variant,,ENST00000448854,;TMEM8A,upstream_gene_variant,,ENST00000424078,;MRPL28,upstream_gene_variant,,ENST00000441883,;MRPL28,upstream_gene_variant,,ENST00000447696,;TMEM8A,downstream_gene_variant,,ENST00000427313,;TMEM8A,downstream_gene_variant,,ENST00000476735,;TMEM8A,non_coding_transcript_exon_variant,,ENST00000475348,;MRPL28,upstream_gene_variant,,ENST00000481453,;MRPL28,upstream_gene_variant,,ENST00000483764,;TMEM8A,upstream_gene_variant,,ENST00000467452,;							MODERATE	1239/2316	N413K	TMM8A_HUMAN			Transcript		benign(0.009)	.	ENSP00000401338		CCDS10407.1			1	
GPR75	0	LGGM	GRCh37	2	54080777	54080777	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	45	4	.	.	ENST00000394705.2:c.1117C>A	p.Pro373Thr	p.P373T	ENST00000394705	NM_006794.3	373	Cct/Act	0	1	1	UPI0000050454	0		ENST00000394705		ENSG00000119737	4526		49			HGNC	p.P373T		GPR75		SNV							ENST00000394705	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/T		T		1388/2115			deleterious(0)				YES	GPR75,missense_variant,p.Pro373Thr,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,;							MODERATE	1117/1623		GPR75_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378195		CCDS1849.1			1	
ZNF496	0	LGGM	GRCh37	1	247492679	247492679	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	4	.	.	ENST00000294753.4:c.202G>T	p.Gly68Trp	p.G68W	ENST00000294753	NM_032752.1	68	Ggg/Tgg	0	1	1	UPI000007025B	0	getma.org/pdb.php?prot=ZN496_HUMAN&from=36&to=131&var=G68W	ENST00000294753		ENSG00000162714	23713		41	0		HGNC	p.G68W		ZNF496		SNV							ENST00000366498	protein_coding	getma.org/?cm=var&var=hg19,1,247492679,C,A&fts=all		Pfam_domain:PF02023,PROSITE_profiles:PS50804,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF212,SMART_domains:SM00431,Superfamily_domains:SSF47353		G/W		A	neutral	667/5336		getma.org/?cm=msa&ty=f&p=ZN496_HUMAN&rb=36&re=131&var=G68W	tolerated(0.15)				YES	ZNF496,missense_variant,p.Gly68Trp,ENST00000294753,NM_032752.1;ZNF496,missense_variant,p.Gly68Trp,ENST00000366498,;ZNF496,upstream_gene_variant,,ENST00000461277,;ZNF496,non_coding_transcript_exon_variant,,ENST00000478225,;ZNF496,non_coding_transcript_exon_variant,,ENST00000477903,;							MODERATE	202/1764	G68W	ZN496_HUMAN			Transcript		benign(0)	.	ENSP00000294753		CCDS1631.1			1	
C17orf50	0	LGGM	GRCh37	17	34095249	34095249	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	45	4	.	.				ENST00000285023	NM_145272.3			0	1	1	UPI00002016EC	0	NA	ENST00000285023		ENSG00000154768	29581		49	2.125	3151	HGNC	p.D33Y		C17orf50		SNV							ENST00000587687	protein_coding	getma.org/?cm=var&var=hg19,17,34095249,C,A&fts=all						A	medium	-/1018		getma.org/?cm=msa&ty=f&p=MMP28_HUMAN&rb=328&re=371&var=D334Y					YES	MMP28,missense_variant,p.Asp33Tyr,ENST00000587687,;C17orf50,downstream_gene_variant,,ENST00000285023,NM_145272.3;C17orf50,downstream_gene_variant,,ENST00000588628,;C17orf50,downstream_gene_variant,,ENST00000586491,;MMP28,splice_region_variant,,ENST00000589103,;MMP28,splice_region_variant,,ENST00000587639,;MMP28,splice_region_variant,,ENST00000590643,;MMP28,splice_region_variant,,ENST00000589061,;MMP28,downstream_gene_variant,,ENST00000587923,;							MODIFIER	-/525	D334Y	CQ050_HUMAN			Transcript			.	ENSP00000285023		CCDS42298.1			1	
SHANK1	0	LGGM	GRCh37	19	51215224	51215224	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	71	4	.	.	ENST00000293441.1:c.940G>T	p.Gly314Cys	p.G314C	ENST00000293441	NM_016148.2	314	Ggc/Tgc	0	1	1	UPI000013E109	0	getma.org/pdb.php?prot=SHAN1_HUMAN&from=314&to=317&var=G314C	ENST00000293441		ENSG00000161681	15474		75	3.52		HGNC	p.G314C		SHANK1		SNV			1				ENST00000293441	protein_coding	getma.org/?cm=var&var=hg19,19,51215224,C,A&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		G/C		A	high	959/6643		getma.org/?cm=msa&ty=f&p=SHAN1_HUMAN&rb=284&re=347&var=G314C					YES	SHANK1,missense_variant,p.Gly314Cys,ENST00000293441,NM_016148.2;SHANK1,missense_variant,p.Gly314Cys,ENST00000391814,;SHANK1,missense_variant,p.Gly314Cys,ENST00000359082,;SHANK1,non_coding_transcript_exon_variant,,ENST00000483128,;							MODERATE	940/6486	G314C	SHAN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000293441		CCDS12799.1			1	
PLG	0	LGGM	GRCh37	6	161160240	161160240	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	4	.	.	ENST00000308192.9:c.2018G>T	p.Ser673Ile	p.S673I	ENST00000308192	NM_000301.3	673	aGt/aTt	0	1	1	UPI000000D8B8	0	getma.org/pdb.php?prot=PLMN_HUMAN&from=581&to=803&var=S673I	ENST00000308192		ENSG00000122194	9071		41	1.925		HGNC	p.S673I		PLG		SNV			1				ENST00000308192	protein_coding	getma.org/?cm=var&var=hg19,6,161160240,G,T&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001150,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF70,SMART_domains:SM00020,Superfamily_domains:SSF50494		S/I		T	medium	2081/2741		getma.org/?cm=msa&ty=f&p=PLMN_HUMAN&rb=581&re=803&var=S673I	deleterious(0.02)	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN			YES	PLG,missense_variant,p.Ser673Ile,ENST00000308192,NM_000301.3;PLG,splice_region_variant,,ENST00000461414,;PLG,splice_region_variant,,ENST00000467466,;							MODERATE	2018/2433	S673I	PLMN_HUMAN			Transcript		possibly_damaging(0.825)	.	ENSP00000308938		CCDS5279.1			1	
TMC1	0	LGGM	GRCh37	9	75309510	75309510	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	4	.	.	ENST00000297784.5:c.116G>T	p.Arg39Ile	p.R39I	ENST00000297784	NM_138691.2	39	aGa/aTa	0	1	1	UPI0000161FA9	0	NA	ENST00000297784		ENSG00000165091	16513		20	0.69		HGNC	p.R39I		TMC1		SNV			1				ENST00000297784	protein_coding	getma.org/?cm=var&var=hg19,9,75309510,G,T&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18		R/I		T	neutral	656/3201		getma.org/?cm=msa&ty=f&p=TMC1_HUMAN&rb=1&re=200&var=R39I	deleterious_low_confidence(0.02)				YES	TMC1,missense_variant,p.Arg39Ile,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Arg39Ile,ENST00000340019,;TMC1,missense_variant,p.Arg39Ile,ENST00000396237,;							MODERATE	116/2283	R39I	TMC1_HUMAN			Transcript		benign(0.049)	.	ENSP00000297784		CCDS6643.1			1	
ALAS1	0	LGGM	GRCh37	3	52236610	52236610	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	36	4	.	.	ENST00000394965.2:c.287C>A	p.Pro96His	p.P96H	ENST00000394965	NM_000688.5	96	cCc/cAc	0	1		UPI0000001230	0	NA	ENST00000310271		ENSG00000023330	396		40	0.69		HGNC	p.P96H		ALAS1		SNV							ENST00000469224	protein_coding	getma.org/?cm=var&var=hg19,3,52236610,C,A&fts=all		hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF50		P/H		A	neutral	432/2212		getma.org/?cm=msa&ty=f&p=HEM1_HUMAN&rb=77&re=139&var=P96H	deleterious(0.01)	Q5JAM2_HUMAN				ALAS1,missense_variant,p.Pro96His,ENST00000394965,NM_000688.5;ALAS1,missense_variant,p.Pro96His,ENST00000484952,;ALAS1,missense_variant,p.Pro96His,ENST00000310271,NM_199166.2;ALAS1,missense_variant,p.Pro96His,ENST00000469224,;ALAS1,upstream_gene_variant,,ENST00000493402,;							MODERATE	287/1923	P96H	HEM1_HUMAN			Transcript		benign(0.024)	.	ENSP00000309259		CCDS2847.1			1	
RAB3A	0	LGGM	GRCh37	19	18311236	18311236	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	41	4	.	.	ENST00000222256.4:c.248G>T	p.Arg83Leu	p.R83L	ENST00000222256	NM_002866.4	83	cGg/cTg	0	1	1	UPI000000125A	0	getma.org/pdb.php?prot=RAB3A_HUMAN&from=24&to=185&var=R83L	ENST00000222256		ENSG00000105649	9777		45	3.33		HGNC	p.R83L		RAB3A		SNV							ENST00000222256	protein_coding	getma.org/?cm=var&var=hg19,19,18311236,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF433,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/L		A	medium	427/1528		getma.org/?cm=msa&ty=f&p=RAB3A_HUMAN&rb=24&re=185&var=R83L	deleterious(0)	S4R3Q3_HUMAN,M0R257_HUMAN			YES	RAB3A,missense_variant,p.Arg83Leu,ENST00000222256,NM_002866.4;RAB3A,missense_variant,p.Arg83Leu,ENST00000481914,;RAB3A,5_prime_UTR_variant,,ENST00000464076,;MPV17L2,downstream_gene_variant,,ENST00000599612,NM_032683.2;AC068499.10,upstream_gene_variant,,ENST00000594805,;AC068499.10,upstream_gene_variant,,ENST00000599416,;AC068499.10,upstream_gene_variant,,ENST00000596473,;MPV17L2,downstream_gene_variant,,ENST00000533807,;MPV17L2,downstream_gene_variant,,ENST00000532896,;RAB3A,downstream_gene_variant,,ENST00000515410,;							MODERATE	248/663	R83L	RAB3A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000222256		CCDS12372.1			1	
USF2	0	LGGM	GRCh37	19	35761689	35761689	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	50	4	.	.	ENST00000222305.3:c.649C>A	p.Arg217=	p.R217=	ENST00000222305	NM_003367.2	217	Cgg/Agg	0	1	1	UPI0000137E4A	0		ENST00000222305		ENSG00000105698	12594		54			HGNC	p.R215R	COSM303523	USF2		SNV						1	ENST00000594064	protein_coding			hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF11		R		A		686/1634							YES	USF2,synonymous_variant,p.=,ENST00000222305,NM_003367.2;USF2,synonymous_variant,p.=,ENST00000595068,;USF2,synonymous_variant,p.=,ENST00000343550,NM_207291.1;USF2,synonymous_variant,p.=,ENST00000594064,;USF2,synonymous_variant,p.=,ENST00000599471,;USF2,synonymous_variant,p.=,ENST00000379134,;USF2,synonymous_variant,p.=,ENST00000596380,;LSR,downstream_gene_variant,,ENST00000602122,;LSR,downstream_gene_variant,,ENST00000361790,NM_205834.3;LSR,downstream_gene_variant,,ENST00000354900,NM_015925.6,NM_001260489.1;LSR,downstream_gene_variant,,ENST00000360798,NM_205835.3;LSR,downstream_gene_variant,,ENST00000347609,;LSR,downstream_gene_variant,,ENST00000605618,NM_001260490.1;LSR,downstream_gene_variant,,ENST00000427250,;USF2,downstream_gene_variant,,ENST00000598058,;USF2,upstream_gene_variant,,ENST00000599625,;LSR,downstream_gene_variant,,ENST00000599658,;USF2,upstream_gene_variant,,ENST00000600341,;USF2,synonymous_variant,p.=,ENST00000597671,;USF2,non_coding_transcript_exon_variant,,ENST00000607959,;USF2,downstream_gene_variant,,ENST00000602164,;LSR,downstream_gene_variant,,ENST00000597446,;USF2,downstream_gene_variant,,ENST00000593708,;					1		LOW	649/1041		USF2_HUMAN			Transcript			.	ENSP00000222305		CCDS12452.1			1	
ROPN1	0	LGGM	GRCh37	3	123699185	123699185	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	4	.	.	ENST00000184183.4:c.116+28C>A		*39*	ENST00000184183	NM_017578.2			0	1	1	UPI00000738C9	0		ENST00000184183		ENSG00000065371	17692		47			HGNC	p.P48P		ROPN1		SNV							ENST00000495093	protein_coding							T		-/1614				C9JP07_HUMAN,C9J6H4_HUMAN,C9J012_HUMAN			YES	ROPN1,synonymous_variant,p.=,ENST00000479867,;ROPN1,synonymous_variant,p.=,ENST00000459660,;ROPN1,synonymous_variant,p.=,ENST00000495093,;ROPN1,synonymous_variant,p.=,ENST00000484329,;ROPN1,intron_variant,,ENST00000184183,NM_017578.2;ROPN1,intron_variant,,ENST00000405845,;ROPN1,intron_variant,,ENST00000460743,;ROPN1,intron_variant,,ENST00000467907,;ROPN1,intron_variant,,ENST00000496145,;ROPN1,intron_variant,,ENST00000487124,;							MODIFIER	-/639		ROP1A_HUMAN			Transcript			.	ENSP00000184183		CCDS3026.1			1	
WAPAL	0	LGGM	GRCh37	10	88260033	88260033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	64	4	.	.	ENST00000298767.5:c.967G>T	p.Ala323Ser	p.A323S	ENST00000298767	NM_015045.2	323	Gcc/Tcc	0	1	1	UPI00001AE41A	0	NA	ENST00000298767		ENSG00000062650	23293		68	0.41		HGNC	p.A323S		WAPAL		SNV							ENST00000298767	protein_coding	getma.org/?cm=var&var=hg19,10,88260033,C,A&fts=all		hmmpanther:PTHR22100:SF13,hmmpanther:PTHR22100		A/S		A	neutral	1440/6333		getma.org/?cm=msa&ty=f&p=WAPL_HUMAN&rb=1&re=613&var=A323S	tolerated_low_confidence(0.8)	B3Y1W2_HUMAN,B2RTX8_HUMAN			YES	WAPAL,missense_variant,p.Ala323Ser,ENST00000298767,NM_015045.2;							MODERATE	967/3573	A323S	WAPL_HUMAN			Transcript		benign(0.01)	.	ENSP00000298767		CCDS7375.1			1	
CARM1	0	LGGM	GRCh37	19	11015662	11015662	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	31	4	.	.	ENST00000327064.4:c.256C>A	p.Arg86=	p.R86=	ENST00000327064	NM_199141.1	86	Cga/Aga	0	1	1	UPI000004B825	0		ENST00000327064		ENSG00000142453	23393		35			HGNC	p.R36R		CARM1		SNV							ENST00000590039	protein_coding			hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF51,Pfam_domain:PF11531		R		A		446/3032							YES	CARM1,synonymous_variant,p.=,ENST00000327064,NM_199141.1;CARM1,synonymous_variant,p.=,ENST00000344150,;CARM1,intron_variant,,ENST00000588947,;CARM1,synonymous_variant,p.=,ENST00000586221,;CARM1,synonymous_variant,p.=,ENST00000590699,;CARM1,synonymous_variant,p.=,ENST00000589693,;CARM1,synonymous_variant,p.=,ENST00000590039,;							LOW	256/1827		CARM1_HUMAN			Transcript			.	ENSP00000325690		CCDS12250.1			1	
RAD54B	0	LGGM	GRCh37	8	95416463	95416463	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	44	4	.	.	ENST00000336148.5:c.786C>A	p.Ser262=	p.S262=	ENST00000336148	NM_012415.3	262	tcC/tcA	0	1	1	UPI0000070088	0		ENST00000336148		ENSG00000197275	17228		48			HGNC	p.S262S		RAD54B		SNV							ENST00000336148	protein_coding			Superfamily_domains:SSF52540,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568		S		T		911/3068				E5RHN9_HUMAN			YES	RAD54B,synonymous_variant,p.=,ENST00000336148,NM_012415.3;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,3_prime_UTR_variant,,ENST00000463267,;RAD54B,upstream_gene_variant,,ENST00000523192,;RAD54B,downstream_gene_variant,,ENST00000518998,;							LOW	786/2733		RA54B_HUMAN			Transcript			.	ENSP00000336606		CCDS6262.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81641542	81641542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	42	4	.	.	ENST00000356860.3:c.1290G>T	p.Leu430Phe	p.L430F	ENST00000356860	NM_000722.2	430	ttG/ttT	0	1		UPI0001B9E74B	0	NA	ENST00000356253		ENSG00000153956	1399		46	2.61		HGNC	p.L430F	COSM333092	CACNA2D1		SNV			1			1	ENST00000356253	protein_coding	getma.org/?cm=var&var=hg19,7,81641542,C,A&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6		L/F		A	medium	1546/3858		getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=253&re=430&var=L430F	deleterious(0)	Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,missense_variant,p.Leu430Phe,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Leu430Phe,ENST00000356253,;MIR1255B1,intron_variant,,ENST00000439234,;MIR1255B1,intron_variant,,ENST00000454066,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000464354,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000475237,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000466806,;					1		MODERATE	1290/3312	L430F	CA2D1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000348589					1	
AKIRIN2	0	LGGM	GRCh37	6	88387620	88387620	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	42	4	.	.	ENST00000257787.5:c.445G>T	p.Gly149Trp	p.G149W	ENST00000257787	NM_018064.3	149	Ggg/Tgg	0	1	1	UPI000006D634	0	NA	ENST00000257787		ENSG00000135334	21407		46	2.705		HGNC	p.G149W		AKIRIN2		SNV							ENST00000257787	protein_coding	getma.org/?cm=var&var=hg19,6,88387620,C,A&fts=all		hmmpanther:PTHR13293,hmmpanther:PTHR13293:SF8		G/W		A	medium	970/1662		getma.org/?cm=msa&ty=f&p=AKIR2_HUMAN&rb=1&re=201&var=G149W	deleterious(0)	Q9NW35_HUMAN			YES	AKIRIN2,missense_variant,p.Gly149Trp,ENST00000257787,NM_018064.3;							MODERATE	445/612	G149W	AKIR2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000257787		CCDS5013.1			1	
ANO4	0	LGGM	GRCh37	12	101436180	101436180	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	51	4	.	.	ENST00000392979.3:c.983C>A	p.Pro328Gln	p.P328Q	ENST00000392979	NM_178826.3	328	cCa/cAa	0	1		UPI0000577AB6	0	NA	ENST00000392977		ENSG00000151572	23837		55	2.83		HGNC	p.P363Q		ANO4		SNV							ENST00000392977	protein_coding	getma.org/?cm=var&var=hg19,12,101436180,C,A&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28,Transmembrane_helices:TMhelix		P/Q		A	medium	1298/3509		getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=339&re=922&var=P363Q	tolerated(0.17)					ANO4,missense_variant,p.Pro328Gln,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Pro363Gln,ENST00000392977,NM_001286615.1;ANO4,5_prime_UTR_variant,,ENST00000299222,;RP11-350G24.1,upstream_gene_variant,,ENST00000549036,;ANO4,non_coding_transcript_exon_variant,,ENST00000548940,;ANO4,downstream_gene_variant,,ENST00000549234,;							MODERATE	1088/2868	P363Q	ANO4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000376703		CCDS66445.1			1	
PDE2A	0	LGGM	GRCh37	11	72290047	72290047	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	5	4	.	.	ENST00000334456.5:c.2363A>G	p.Tyr788Cys	p.Y788C	ENST00000334456	NM_002599.4	788	tAc/tGc	0	1	1	UPI000003B340	0	getma.org/pdb.php?prot=PDE2A_HUMAN&from=655&to=892&var=Y788C	ENST00000334456		ENSG00000186642	8777		9	2.715		HGNC	p.Y532C		PDE2A		SNV							ENST00000376450	protein_coding	getma.org/?cm=var&var=hg19,11,72290047,T,C&fts=all		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF102,Pfam_domain:PF00233,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604		Y/C		C	medium	2609/4315		getma.org/?cm=msa&ty=f&p=PDE2A_HUMAN&rb=655&re=892&var=Y788C	deleterious(0)	F5GXX2_HUMAN,C9JPD5_HUMAN			YES	PDE2A,missense_variant,p.Tyr788Cys,ENST00000334456,NM_002599.4;PDE2A,missense_variant,p.Tyr779Cys,ENST00000444035,;PDE2A,missense_variant,p.Tyr532Cys,ENST00000376450,;PDE2A,missense_variant,p.Tyr781Cys,ENST00000544570,NM_001243784.1,NM_001143839.3;PDE2A,missense_variant,p.Tyr779Cys,ENST00000540345,NM_001146209.2;PDE2A,missense_variant,p.Tyr673Cys,ENST00000418754,;PDE2A,missense_variant,p.Tyr167Cys,ENST00000420501,;PDE2A,downstream_gene_variant,,ENST00000441209,;PDE2A,downstream_gene_variant,,ENST00000542223,;PDE2A,non_coding_transcript_exon_variant,,ENST00000536918,;PDE2A,non_coding_transcript_exon_variant,,ENST00000544239,;PDE2A,intron_variant,,ENST00000539367,;							MODERATE	2363/2826	Y788C	PDE2A_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000334910		CCDS8216.1			1	
CUX2	0	LGGM	GRCh37	12	111779660	111779660	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	4	.	.	ENST00000261726.6:c.3462C>A	p.Pro1154=	p.P1154=	ENST00000261726	NM_015267.3	1154	ccC/ccA	0	1	1	UPI00001FBB07	0		ENST00000261726		ENSG00000111249	19347		34			HGNC	p.P1154P		CUX2		SNV							ENST00000261726	protein_coding			hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5		P		A		3616/6844				Q9BZX3_HUMAN,Q9BZV4_HUMAN			YES	CUX2,synonymous_variant,p.=,ENST00000261726,NM_015267.3;RNA5SP373,downstream_gene_variant,,ENST00000517271,;							LOW	3462/4461		CUX2_HUMAN			Transcript			.	ENSP00000261726		CCDS41837.1			1	
ST7	0	LGGM	GRCh37	7	116774225	116774225	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	4	.	.	ENST00000265437.5:c.689G>T	p.Trp230Leu	p.W230L	ENST00000265437	NM_021908.2	230	tGg/tTg	0	1	1	UPI00000702A3	0	NA	ENST00000265437		ENSG00000004866	11351		47	0		HGNC	p.W230L		ST7		SNV							ENST00000265437	protein_coding	getma.org/?cm=var&var=hg19,7,116774225,G,T&fts=all		hmmpanther:PTHR12745,Gene3D:1.25.40.10,Pfam_domain:PF04184		W/L		T	neutral	903/2899		getma.org/?cm=msa&ty=f&p=ST7_HUMAN&rb=16&re=571&var=W230L	tolerated_low_confidence(0.32)	Q9NRC0_HUMAN,C9JZV9_HUMAN,C9JX79_HUMAN,C9JRQ0_HUMAN,C9JCI7_HUMAN			YES	ST7,missense_variant,p.Trp230Leu,ENST00000265437,NM_021908.2;ST7,missense_variant,p.Trp187Leu,ENST00000393447,;ST7,missense_variant,p.Trp230Leu,ENST00000323984,;ST7,missense_variant,p.Trp230Leu,ENST00000393449,;ST7,missense_variant,p.Trp184Leu,ENST00000432298,;ST7,missense_variant,p.Trp178Leu,ENST00000490039,;ST7,intron_variant,,ENST00000393443,;ST7,intron_variant,,ENST00000465133,;ST7,intron_variant,,ENST00000393446,;ST7,intron_variant,,ENST00000393444,;ST7,intron_variant,,ENST00000393451,NM_018412.3;ST7,intron_variant,,ENST00000422922,;ST7,intron_variant,,ENST00000446490,;ST7,downstream_gene_variant,,ENST00000477742,;ST7,downstream_gene_variant,,ENST00000420755,;ST7,downstream_gene_variant,,ENST00000449366,;ST7-AS2,intron_variant,,ENST00000432541,;ST7-AS2,intron_variant,,ENST00000434993,;ST7-AS2,intron_variant,,ENST00000442719,;ST7,non_coding_transcript_exon_variant,,ENST00000487459,;ST7,intron_variant,,ENST00000489293,;ST7,downstream_gene_variant,,ENST00000467538,;ST7,intron_variant,,ENST00000438863,;ST7,intron_variant,,ENST00000443979,;							MODERATE	689/1758	W230L	ST7_HUMAN			Transcript		benign(0)	.	ENSP00000265437		CCDS5770.1			1	
HNRNPH2	0	LGGM	GRCh37	X	100667339	100667339	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	45	4	.	.	ENST00000316594.5:c.363C>A	p.Gly121=	p.G121=	ENST00000316594	NM_001199974.1	121	ggC/ggA	0	1	1	UPI0000134537	0		ENST00000316594		ENSG00000126945	5042		49			HGNC	p.G121G		HNRNPH2		SNV							ENST00000316594	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF33,SMART_domains:SM00360,Superfamily_domains:SSF54928		G		A		441/2223							YES	HNRNPH2,synonymous_variant,p.=,ENST00000316594,NM_001199974.1,NM_001199973.1,NM_019597.4,NM_001032393.2;GLA,upstream_gene_variant,,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409338,;RPL36A-HNRNPH2,downstream_gene_variant,,ENST00000409170,;GLA,upstream_gene_variant,,ENST00000479445,;GLA,upstream_gene_variant,,ENST00000486121,;GLA,upstream_gene_variant,,ENST00000480513,;GLA,upstream_gene_variant,,ENST00000493905,;							LOW	363/1350		HNRH2_HUMAN			Transcript			.	ENSP00000361927		CCDS14485.1			1	
PKP2	0	LGGM	GRCh37	12	32955425	32955425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	74	4	.	.	ENST00000070846.6:c.2211G>T	p.Met737Ile	p.M737I	ENST00000070846	NM_004572.3	737	atG/atT	0	1	1	UPI000013C576	0	getma.org/pdb.php?prot=PKP2_HUMAN&from=625&to=824&var=M737I	ENST00000070846		ENSG00000057294	9024		78	0.315		HGNC	p.M693I		PKP2		SNV			1				ENST00000340811	protein_coding	getma.org/?cm=var&var=hg19,12,32955425,C,A&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		M/I		A	neutral	2236/4241		getma.org/?cm=msa&ty=f&p=PKP2_HUMAN&rb=625&re=824&var=M737I	tolerated(0.16)				YES	PKP2,missense_variant,p.Met693Ile,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Met737Ile,ENST00000070846,NM_004572.3;PKP2,non_coding_transcript_exon_variant,,ENST00000549461,;							MODERATE	2211/2646	M737I	PKP2_HUMAN			Transcript		benign(0.241)	.	ENSP00000070846		CCDS8731.1			1	
KIF26B	0	LGGM	GRCh37	1	245862320	245862320	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	4	.	.	ENST00000407071.2:c.6159C>A	p.Pro2053=	p.P2053=	ENST00000407071	NM_018012.3	2053	ccC/ccA	0	1	1	UPI0000695D71	0		ENST00000407071		ENSG00000162849	25484		47			HGNC	p.P2053P		KIF26B		SNV							ENST00000407071	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363		P		A		6599/7287				B4DF75_HUMAN			YES	KIF26B,synonymous_variant,p.=,ENST00000366518,;KIF26B,synonymous_variant,p.=,ENST00000407071,NM_018012.3;							LOW	6159/6327		KI26B_HUMAN			Transcript			.	ENSP00000385545		CCDS44342.1			1	
SLC10A1	0	LGGM	GRCh37	14	70252950	70252950	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	13	4	.	.	ENST00000216540.4:c.431G>T	p.Gly144Val	p.G144V	ENST00000216540	NM_003049.3	144	gGg/gTg	0	1	1	UPI0000130576	0	getma.org/pdb.php?prot=NTCP_HUMAN&from=32&to=214&var=G144V	ENST00000216540		ENSG00000100652	10905		17	1.725		HGNC	p.G144V		SLC10A1		SNV							ENST00000216540	protein_coding	getma.org/?cm=var&var=hg19,14,70252950,C,A&fts=all		Pfam_domain:PF01758,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18		G/V		A	low	565/2049		getma.org/?cm=msa&ty=f&p=NTCP_HUMAN&rb=32&re=214&var=G144V	deleterious(0.04)	Q9UK36_HUMAN			YES	SLC10A1,missense_variant,p.Gly144Val,ENST00000216540,NM_003049.3;							MODERATE	431/1050	G144V	NTCP_HUMAN			Transcript		possibly_damaging(0.558)	.	ENSP00000216540		CCDS9797.1			1	
TMEM256	0	LGGM	GRCh37	17	7306630	7306630	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	4	.	.	ENST00000302422.3:c.197G>T	p.Trp66Leu	p.W66L	ENST00000302422	NM_152766.3	66	tGg/tTg	0	1	1	UPI0000049DA7	0	NA	ENST00000302422		ENSG00000205544	28618		41	0.065		HGNC	p.W66L		TMEM256		SNV							ENST00000573331	protein_coding	getma.org/?cm=var&var=hg19,17,7306630,C,A&fts=all		Pfam_domain:PF04241,hmmpanther:PTHR10584,Transmembrane_helices:TMhelix		W/L		A	neutral	250/486		getma.org/?cm=msa&ty=f&p=CQ061_HUMAN&rb=21&re=102&var=W66L	tolerated(0.82)				YES	TMEM256,missense_variant,p.Trp66Leu,ENST00000302422,NM_152766.3;TMEM256-PLSCR3,splice_region_variant,,ENST00000535512,;TMEM256,3_prime_UTR_variant,,ENST00000576017,;NLGN2,upstream_gene_variant,,ENST00000302926,NM_020795.3;NLGN2,upstream_gene_variant,,ENST00000575301,;NLGN2,upstream_gene_variant,,ENST00000572893,;C17orf61-PLSCR3,missense_variant,p.Trp66Leu,ENST00000573331,;C17orf61-PLSCR3,missense_variant,p.Trp26Leu,ENST00000571125,;C17orf61-PLSCR3,missense_variant,p.Trp66Leu,ENST00000570569,;TMEM256,splice_region_variant,,ENST00000575427,;C17orf61-PLSCR3,intron_variant,,ENST00000570600,;							MODERATE	197/342	W66L	TM256_HUMAN			Transcript		possibly_damaging(0.807)	.	ENSP00000301939		CCDS11102.1			1	
LYPD2	0	LGGM	GRCh37	8	143832477	143832477	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	46	4	.	.	ENST00000359228.3:c.170G>T	p.Arg57Leu	p.R57L	ENST00000359228	NM_205545.1	57	cGg/cTg	0	1	1	UPI0000035978	0	NA	ENST00000359228		ENSG00000197353	25215		50	-0.38		HGNC	p.R57L		LYPD2		SNV							ENST00000359228	protein_coding	getma.org/?cm=var&var=hg19,8,143832477,C,A&fts=all		hmmpanther:PTHR10036:SF2,hmmpanther:PTHR10036,PROSITE_patterns:PS00983,Pfam_domain:PF00021,Gene3D:2.10.60.10,SMART_domains:SM00134,Superfamily_domains:SSF57302		R/L		A	neutral	253/594		getma.org/?cm=msa&ty=f&p=LYPD2_HUMAN&rb=25&re=100&var=R57L	tolerated(1)	F1T0L0_HUMAN			YES	LYPD2,missense_variant,p.Arg57Leu,ENST00000359228,NM_205545.1;							MODERATE	170/378	R57L	LYPD2_HUMAN			Transcript		benign(0.004)	.	ENSP00000352163		CCDS6388.1			1	
SLC22A24	0	LGGM	GRCh37	11	62886744	62886744	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	4	.	.	ENST00000417740.1:c.570G>T	p.Ala190=	p.A190=	ENST00000417740	NM_001136506.2	190	gcG/gcT	0	1		UPI0000141874	0		ENST00000326192		ENSG00000197658	28542		44			HGNC	p.A190A	rs193179908	SLC22A24		SNV	T:0.0007						ENST00000531535	protein_coding		T:0	Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		A	T:0.0038	A		1012/1663	0.000114				T:0.0014	T:0		SLC22A24,synonymous_variant,p.=,ENST00000417740,NM_001136506.2;SLC22A24,synonymous_variant,p.=,ENST00000326192,;RPL29P22,upstream_gene_variant,,ENST00000498718,;		T:0.0012					LOW	570/969		S22AO_HUMAN		T:0.002	Transcript			.	ENSP00000321549	2.36E-05			T:0.0031	1	
RANBP6	0	LGGM	GRCh37	9	6015141	6015141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	22	4	.	.	ENST00000259569.5:c.467G>T	p.Trp156Leu	p.W156L	ENST00000259569	NM_012416.3	156	tGg/tTg	0	1	1	UPI000013D061	0	NA	ENST00000259569		ENSG00000137040	9851		26	-0.345		HGNC	p.W156L		RANBP6		SNV							ENST00000259569	protein_coding	getma.org/?cm=var&var=hg19,9,6015141,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF16,hmmpanther:PTHR10527		W/L		A	neutral	478/4576		getma.org/?cm=msa&ty=f&p=RNBP6_HUMAN&rb=1&re=200&var=W156L	deleterious(0.02)	B4E340_HUMAN			YES	RANBP6,missense_variant,p.Trp156Leu,ENST00000259569,NM_012416.3,NM_001243203.1,NM_001243202.1;RANBP6,intron_variant,,ENST00000485372,;							MODERATE	467/3318	W156L	RNBP6_HUMAN			Transcript		benign(0.004)	.	ENSP00000259569		CCDS6467.1			1	
P2RX5	0	LGGM	GRCh37	17	3582998	3582998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	0	4	.	.	ENST00000225328.5:c.1145G>T	p.Gly382Val	p.G382V	ENST00000225328	NM_001204519.1	382	gGg/gTg	0	1	1	UPI0000074324	0	NA	ENST00000225328		ENSG00000083454	8536		4	0		HGNC	p.G357V		P2RX5		SNV							ENST00000551178	protein_coding	getma.org/?cm=var&var=hg19,17,3582998,C,A&fts=all		hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF12		G/V		A	neutral	1544/2309		getma.org/?cm=msa&ty=f&p=P2RX5_HUMAN&rb=368&re=422&var=G382V	tolerated_low_confidence(0.2)				YES	P2RX5,missense_variant,p.Gly382Val,ENST00000225328,NM_001204519.1,NM_002561.3;P2RX5,missense_variant,p.Gly358Val,ENST00000345901,NM_175080.2,NM_001204520.1;P2RX5,missense_variant,p.Gly381Val,ENST00000547178,;P2RX5,missense_variant,p.Gly357Val,ENST00000551178,;P2RX5,missense_variant,p.Gly381Val,ENST00000552276,;P2RX5,missense_variant,p.Gly322Val,ENST00000552050,;P2RX5,missense_variant,p.Gly382Val,ENST00000435558,;P2RX5,missense_variant,p.Gly256Val,ENST00000552723,;P2RX5-TAX1BP3,missense_variant,p.Gly382Val,ENST00000550383,;P2RX5,3_prime_UTR_variant,,ENST00000552456,;P2RX5,non_coding_transcript_exon_variant,,ENST00000549063,;							MODERATE	1145/1269	G382V	P2RX5_HUMAN			Transcript		benign(0.272)	.	ENSP00000225328		CCDS11034.1			1	
RDX	0	LGGM	GRCh37	11	110124706	110124706	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	53	4	.	.	ENST00000405097.1:c.924G>T	p.Gln308His	p.Q308H	ENST00000405097	NM_001260492.1	308	caG/caT	0	1		UPI00001330CF	0	getma.org/pdb.php?prot=RADI_HUMAN&from=300&to=335&var=Q308H	ENST00000343115		ENSG00000137710	9944		57	3.285		HGNC	p.Q308H		RDX		SNV			1				ENST00000405097	protein_coding	getma.org/?cm=var&var=hg19,11,110124706,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF14,Gene3D:1e5wA04,PIRSF_domain:PIRSF002305,Superfamily_domains:SSF50729		Q/H		A	medium	1244/4491		getma.org/?cm=msa&ty=f&p=RADI_HUMAN&rb=300&re=335&var=Q308H	deleterious(0)	Q9NST9_HUMAN,E9PQ82_HUMAN,E9PNV3_HUMAN,E9PKN5_HUMAN,B0YJ88_HUMAN				RDX,missense_variant,p.Gln308His,ENST00000343115,NM_001260494.1,NM_002906.3;RDX,missense_variant,p.Gln308His,ENST00000405097,NM_001260492.1;RDX,missense_variant,p.Gln308His,ENST00000528498,NM_001260493.1;RDX,missense_variant,p.Gln172His,ENST00000544551,;RDX,intron_variant,,ENST00000528900,NM_001260495.1;RDX,intron_variant,,ENST00000530301,NM_001260496.1;RDX,downstream_gene_variant,,ENST00000534683,;RDX,downstream_gene_variant,,ENST00000532118,;RDX,missense_variant,p.Gln308His,ENST00000530749,;RDX,3_prime_UTR_variant,,ENST00000530131,;RDX,non_coding_transcript_exon_variant,,ENST00000529774,;							MODERATE	924/1752	Q308H	RADI_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000342830		CCDS8343.1			1	
OXCT2	0	LGGM	GRCh37	1	40236790	40236790	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	8	4	.	.	ENST00000327582.5:c.138G>T	p.Pro46=	p.P46=	ENST00000327582	NM_022120.1	46	ccG/ccT	0	1	1	UPI000006DF0A	0		ENST00000327582		ENSG00000198754	18606		12			HGNC	p.P46P		OXCT2		SNV							ENST00000327582	protein_coding			Gene3D:3.40.1080.10,Pfam_domain:PF01144,PIRSF_domain:PIRSF000858,hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF28,SMART_domains:SM00882,Superfamily_domains:SSF100950,TIGRFAM_domain:TIGR02429		P		A		231/1826							YES	OXCT2,synonymous_variant,p.=,ENST00000327582,NM_022120.1;BMP8B,intron_variant,,ENST00000372827,NM_001720.3;BMP8B,intron_variant,,ENST00000397360,;							LOW	138/1554		SCOT2_HUMAN			Transcript			.	ENSP00000361914		CCDS445.1			1	
SYNE3	0	LGGM	GRCh37	14	95906073	95906073	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	4	.	.	ENST00000334258.5:c.2122G>T	p.Glu708Ter	p.E708*	ENST00000334258	NM_152592.3	708	Gaa/Taa	0	1	1	UPI0000246F54	0	NA	ENST00000334258		ENSG00000176438	19861		20	0		HGNC	p.E465X		SYNE3		SNV							ENST00000554873	protein_coding	getma.org/?cm=var&var=hg19,14,95906073,C,A&fts=all		Superfamily_domains:SSF46966,SMART_domains:SM00150,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245		E/*		A	NA	2137/3275		NA					YES	SYNE3,stop_gained,p.Glu708Ter,ENST00000334258,NM_152592.3;SYNE3,stop_gained,p.Glu708Ter,ENST00000557275,;SYNE3,stop_gained,p.Glu465Ter,ENST00000554873,;SYNE3,downstream_gene_variant,,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;							HIGH	2122/2928	E708*	SYNE3_HUMAN			Transcript			.	ENSP00000334308		CCDS9935.1			1	
PLEKHG2	0	LGGM	GRCh37	19	39914497	39914497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	4	.	.	ENST00000409794.3:c.2724G>T	p.Gln908His	p.Q908H	ENST00000409794	NM_022835.2	908	caG/caT	0	1		UPI0001AE644F	0	NA	ENST00000425673		ENSG00000090924	29515		47	1.385		HGNC	p.Q849H		PLEKHG2		SNV							ENST00000458508	protein_coding	getma.org/?cm=var&var=hg19,19,39914497,G,T&fts=all				Q/H		T	low	2962/7519		getma.org/?cm=msa&ty=f&p=PKHG2_HUMAN&rb=869&re=1384&var=Q908H	deleterious_low_confidence(0)					PLEKHG2,missense_variant,p.Gln879His,ENST00000425673,;PLEKHG2,missense_variant,p.Gln908His,ENST00000409794,NM_022835.2;PLEKHG2,missense_variant,p.Gln776His,ENST00000205135,;PLEKHG2,missense_variant,p.Gln849His,ENST00000458508,;PLEKHG2,intron_variant,,ENST00000409797,;PLEKHG2,intron_variant,,ENST00000378550,;PLEKHG2,intron_variant,,ENST00000600210,;PLEKHG2,intron_variant,,ENST00000596443,;PLEKHG2,upstream_gene_variant,,ENST00000596339,;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,;							MODERATE	2637/4074	Q908H	PKHG2_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000392906					1	
CSNK1E	0	LGGM	GRCh37	22	38699012	38699012	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	11	4	.	.	ENST00000396832.1:c.190G>T	p.Gly64Trp	p.G64W	ENST00000396832	NM_152221.2	64	Ggg/Tgg	0	1		UPI000012DC67	0	getma.org/pdb.php?prot=KC1E_HUMAN&from=9&to=280&var=G64W	ENST00000359867		ENSG00000213923	2453		15	5.225		HGNC	p.G64W		CSNK1E		SNV							ENST00000413574	protein_coding	getma.org/?cm=var&var=hg19,22,38699012,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF74,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/W		A	high	301/2642		getma.org/?cm=msa&ty=f&p=KC1E_HUMAN&rb=9&re=280&var=G64W	deleterious_low_confidence(0)	Q5U045_HUMAN,B0QY36_HUMAN				CSNK1E,missense_variant,p.Gly64Trp,ENST00000396832,NM_152221.2;CSNK1E,missense_variant,p.Gly64Trp,ENST00000359867,NM_001894.4;CSNK1E,missense_variant,p.Gly64Trp,ENST00000400206,;CSNK1E,missense_variant,p.Gly64Trp,ENST00000405675,;CSNK1E,missense_variant,p.Gly64Trp,ENST00000413574,;CSNK1E,missense_variant,p.Gly64Trp,ENST00000403904,;CSNK1E,missense_variant,p.Gly64Trp,ENST00000430335,;CSNK1E,missense_variant,p.Gly2Trp,ENST00000451964,;CSNK1E,upstream_gene_variant,,ENST00000431632,;CSNK1E,upstream_gene_variant,,ENST00000498529,;CSNK1E,upstream_gene_variant,,ENST00000467976,;CSNK1E,upstream_gene_variant,,ENST00000431611,;CSNK1E,upstream_gene_variant,,ENST00000442216,;							MODERATE	190/1251	G64W	KC1E_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352929		CCDS13970.1			1	
RALGAPA1	0	LGGM	GRCh37	14	36041847	36041847	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	4	.	.	ENST00000307138.6:c.5769C>A	p.Pro1923=	p.P1923=	ENST00000307138	NM_194301.2	1923	ccC/ccA	0	1		UPI00003B5C50	0		ENST00000389698		ENSG00000174373	17770		44			HGNC	p.P1936P		RALGAPA1		SNV							ENST00000382366	protein_coding			Superfamily_domains:0043732,Pfam_domain:PF02145,PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3		P		T		6160/7864				Q9H984_HUMAN				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,synonymous_variant,p.=,ENST00000554259,;RALGAPA1,synonymous_variant,p.=,ENST00000554573,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000556837,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554355,;							LOW	5769/6111		RGPA1_HUMAN			Transcript			.	ENSP00000374348		CCDS32065.1			1	
SLC5A12	0	LGGM	GRCh37	11	26743147	26743147	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	77	4	.	.	ENST00000396005.3:c.115C>A	p.Arg39=	p.R39=	ENST00000396005	NM_178498.3	39	Cga/Aga	0	1	1	UPI000003ED2C	0		ENST00000396005		ENSG00000148942	28750		81			HGNC	p.R39R		SLC5A12		SNV							ENST00000396005	protein_coding			hmmpanther:PTHR11819,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF113		R		T		425/6250				E9PLZ7_HUMAN			YES	SLC5A12,synonymous_variant,p.=,ENST00000396005,NM_178498.3;SLC5A12,synonymous_variant,p.=,ENST00000280467,;SLC5A12,intron_variant,,ENST00000533617,;SLC5A12,non_coding_transcript_exon_variant,,ENST00000528822,;SLC5A12,intron_variant,,ENST00000527405,;							LOW	115/1857		SC5AC_HUMAN			Transcript			.	ENSP00000379326		CCDS7860.2			1	
ALG10	0	LGGM	GRCh37	12	34176987	34176987	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	58	4	.	.	ENST00000266483.2:c.262C>A	p.His88Asn	p.H88N	ENST00000266483	NM_032834.3	88	Cat/Aat	0	1	1	UPI000004E870	0	NA	ENST00000266483		ENSG00000139133	23162		62	0.49		HGNC	p.H88N		ALG10		SNV							ENST00000266483	protein_coding	getma.org/?cm=var&var=hg19,12,34176987,C,A&fts=all		hmmpanther:PTHR12989,hmmpanther:PTHR12989:SF11,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810		H/N		A	neutral	581/2393		getma.org/?cm=msa&ty=f&p=AG10A_HUMAN&rb=28&re=427&var=H88N	tolerated(0.56)				YES	ALG10,missense_variant,p.His88Asn,ENST00000266483,NM_032834.3;ALG10,missense_variant,p.His88Asn,ENST00000538927,;AC046130.1,downstream_gene_variant,,ENST00000401300,;RP11-847H18.2,non_coding_transcript_exon_variant,,ENST00000501954,;ALG10,3_prime_UTR_variant,,ENST00000541875,;ALG10,non_coding_transcript_exon_variant,,ENST00000541178,;							MODERATE	262/1422	H88N	AG10A_HUMAN			Transcript		benign(0.006)	.	ENSP00000266483		CCDS41769.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70585280	70585280	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	47	4	.	.	ENST00000260126.4:c.2371C>A	p.Arg791=	p.R791=	ENST00000260126	NM_030958.2	791	Cgg/Agg	0	1	1	UPI0000140F53	0		ENST00000260126		ENSG00000137571	19046		51			HGNC	p.R791R	rs773836741	SLCO5A1		SNV							ENST00000260126	protein_coding			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86		R		T		3078/9076	1.50E-05						YES	SLCO5A1,synonymous_variant,p.=,ENST00000260126,NM_030958.2;SLCO5A1,synonymous_variant,p.=,ENST00000530307,NM_001146009.1;SLCO5A1,3_prime_UTR_variant,,ENST00000524945,NM_001146008.1;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;							LOW	2371/2547		SO5A1_HUMAN			Transcript			.	ENSP00000260126	8.24E-06	CCDS6205.1			1	
NDNL2	0	LGGM	GRCh37	15	29561314	29561314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	26	4	.	.	ENST00000332303.4:c.596G>T	p.Trp199Leu	p.W199L	ENST00000332303	NM_138704.3	199	tGg/tTg	0	1	1	UPI000004E578	0	getma.org/pdb.php?prot=MAGG1_HUMAN&from=92&to=263&var=W199L	ENST00000332303		ENSG00000185115	7677		30	3.06		HGNC	p.W199L		NDNL2		SNV							ENST00000332303	protein_coding	getma.org/?cm=var&var=hg19,15,29561314,C,A&fts=all		PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF51,hmmpanther:PTHR11736,Pfam_domain:PF01454		W/L		A	medium	720/1681		getma.org/?cm=msa&ty=f&p=MAGG1_HUMAN&rb=92&re=263&var=W199L	deleterious(0)				YES	NDNL2,missense_variant,p.Trp199Leu,ENST00000332303,NM_138704.3;FAM189A1,intron_variant,,ENST00000261275,NM_015307.1;FAM189A1,intron_variant,,ENST00000560082,;							MODERATE	596/915	W199L	MAGG1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000330694		CCDS10023.1			1	
CDH7	0	LGGM	GRCh37	18	63477230	63477230	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	78	4	.	.	ENST00000397968.2:c.501C>A	p.Pro167=	p.P167=	ENST00000397968	NM_004361.2	167	ccC/ccA	0	1		UPI000013D269	0		ENST00000323011		ENSG00000081138	1766		82			HGNC	p.P167P		CDH7		SNV							ENST00000323011	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Superfamily_domains:SSF49313		P		A		826/2728								CDH7,synonymous_variant,p.=,ENST00000536984,;CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;							LOW	501/2358		CADH7_HUMAN			Transcript			.	ENSP00000319166		CCDS11993.1			1	
OVCH2	0	LGGM	GRCh37	11	7722971	7722971	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	44	4	.	.	ENST00000454689.1:c.611G>T	p.Trp204Leu	p.W204L	ENST00000454689	NM_198185.3	204	tGg/tTg	0	1	1	UPI00015294E3	0	getma.org/pdb.php?prot=OVCH2_HUMAN&from=52&to=294&var=W204L	ENST00000454689		ENSG00000183378	29970		48	-0.515		HGNC	p.W204L		OVCH2		SNV							ENST00000454689	protein_coding	getma.org/?cm=var&var=hg19,11,7722971,C,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24251:SF16,hmmpanther:PTHR24251,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		W/L		A	neutral	611/1695		getma.org/?cm=msa&ty=f&p=OVCH2_HUMAN&rb=52&re=294&var=W204L	tolerated(0.49)				YES	OVCH2,missense_variant,p.Trp204Leu,ENST00000454689,NM_198185.3;RP11-35J10.5,downstream_gene_variant,,ENST00000527565,;RP11-35J10.4,upstream_gene_variant,,ENST00000527443,;OVCH2,upstream_gene_variant,,ENST00000534817,;OVCH2,missense_variant,p.Trp208Leu,ENST00000534193,;							MODERATE	611/1695	W204L	OVCH2_HUMAN			Transcript		benign(0)	.	ENSP00000407158					1	
SCAPER	0	LGGM	GRCh37	15	76643622	76643622	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	40	4	.	.	ENST00000563290.1:c.4055C>A	p.Ala1352Glu	p.A1352E	ENST00000563290		1352	gCa/gAa	0	1		UPI0000E59CC3	0	NA	ENST00000324767		ENSG00000140386	13081		44	1.59		HGNC	p.A1352E		SCAPER		SNV							ENST00000324767	protein_coding	getma.org/?cm=var&var=hg19,15,76643622,G,T&fts=all		hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2		A/E		T	low	4114/4707		getma.org/?cm=msa&ty=f&p=SCAPE_HUMAN&rb=1216&re=1399&var=A1351E	tolerated(0.16)	H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN				SCAPER,missense_variant,p.Ala1106Glu,ENST00000538941,NM_001145923.1;SCAPER,missense_variant,p.Ala1352Glu,ENST00000563290,;SCAPER,missense_variant,p.Ala1352Glu,ENST00000324767,NM_020843.2;SCAPER,non_coding_transcript_exon_variant,,ENST00000563246,;SCAPER,non_coding_transcript_exon_variant,,ENST00000562948,;							MODERATE	4055/4203	A1351E	SCAPE_HUMAN			Transcript		benign(0.007)	.	ENSP00000326924		CCDS53962.1			1	
SLC29A4	0	LGGM	GRCh37	7	5330427	5330427	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	35	4	.	.	ENST00000396872.3:c.234C>A	p.Gly78=	p.G78=	ENST00000396872		78	ggC/ggA	0	1		UPI0000051F6F	0		ENST00000297195		ENSG00000164638	23097		39			HGNC	p.G78G		SLC29A4		SNV							ENST00000434816	protein_coding			hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF4,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		G		A		359/2839				C9IYM7_HUMAN				SLC29A4,synonymous_variant,p.=,ENST00000396872,;SLC29A4,synonymous_variant,p.=,ENST00000297195,NM_001040661.1,NM_153247.2;SLC29A4,synonymous_variant,p.=,ENST00000406453,;SLC29A4,synonymous_variant,p.=,ENST00000434816,;SLC29A4,synonymous_variant,p.=,ENST00000444741,;							LOW	234/1593		S29A4_HUMAN			Transcript			.	ENSP00000297195		CCDS5340.1			1	
PTGDS	0	LGGM	GRCh37	9	139872063	139872063	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	1	4	.	.	ENST00000371625.3:c.33G>T	p.Leu11=	p.L11=	ENST00000371625	NM_000954.5	11	ctG/ctT	0	1	1	UPI00001317A4	0		ENST00000371625		ENSG00000107317	9592		5			HGNC	p.L11L		PTGDS		SNV							ENST00000457950	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11430:SF64,hmmpanther:PTHR11430,Gene3D:2.40.128.20		L		T		107/807							YES	PTGDS,synonymous_variant,p.=,ENST00000371623,;PTGDS,synonymous_variant,p.=,ENST00000224167,;PTGDS,synonymous_variant,p.=,ENST00000371625,NM_000954.5;PTGDS,synonymous_variant,p.=,ENST00000457950,;PTGDS,upstream_gene_variant,,ENST00000446677,;PTGDS,upstream_gene_variant,,ENST00000444903,;RP11-229P13.19,downstream_gene_variant,,ENST00000413913,;PTGDS,upstream_gene_variant,,ENST00000460340,;PTGDS,upstream_gene_variant,,ENST00000462514,;PTGDS,upstream_gene_variant,,ENST00000492068,;PTGDS,upstream_gene_variant,,ENST00000467871,;PTGDS,synonymous_variant,p.=,ENST00000471521,;LCNL1,upstream_gene_variant,,ENST00000482657,;							LOW	33/573		PTGDS_HUMAN			Transcript			.	ENSP00000360687		CCDS7019.1			1	
GBP3	0	LGGM	GRCh37	1	89480340	89480340	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	57	5	.	.	ENST00000370481.4:c.319-1G>T		p.X107_splice	ENST00000370481	NM_018284.2			0	1	1	UPI0000204D81	0		ENST00000370481		ENSG00000117226	4184		62			HGNC	-		GBP3		SNV							ENST00000370481	protein_coding							A		-/3067				F6X827_HUMAN,H3BPH2_HUMAN,F6SPX6_HUMAN			YES	GBP3,splice_acceptor_variant,,ENST00000370481,NM_018284.2;GBP3,splice_acceptor_variant,,ENST00000564665,;GBP3,upstream_gene_variant,,ENST00000461384,;GBP3,upstream_gene_variant,,ENST00000445969,;GBP3,downstream_gene_variant,,ENST00000475853,;GBP3,splice_acceptor_variant,,ENST00000370482,;GBP3,splice_acceptor_variant,,ENST00000493594,;GBP3,splice_acceptor_variant,,ENST00000489444,;GBP3,splice_acceptor_variant,,ENST00000235878,;GBP3,downstream_gene_variant,,ENST00000568006,;							HIGH	319/1788		GBP3_HUMAN			Transcript			.	ENSP00000359512		CCDS717.2			1	
CENPI	0	LGGM	GRCh37	X	100384980	100384980	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	88	5	.	.	ENST00000372927.1:c.1205G>T	p.Trp402Leu	p.W402L	ENST00000372927	NM_006733.2	402	tGg/tTg	0	1	1	UPI000004A007	0	NA	ENST00000372927		ENSG00000102384	3968		93	1.935		HGNC	p.W402L		CENPI		SNV							ENST00000372927	protein_coding	getma.org/?cm=var&var=hg19,X,100384980,G,T&fts=all		Pfam_domain:PF07778,hmmpanther:PTHR15408		W/L		T	medium	1482/3262		getma.org/?cm=msa&ty=f&p=CENPI_HUMAN&rb=1&re=522&var=W402L	tolerated(0.09)	Q5JX02_HUMAN,Q5JX01_HUMAN			YES	CENPI,missense_variant,p.Trp402Leu,ENST00000372927,NM_006733.2;CENPI,missense_variant,p.Trp402Leu,ENST00000423383,;CENPI,missense_variant,p.Trp402Leu,ENST00000218507,;CENPI,missense_variant,p.Trp402Leu,ENST00000372926,;							MODERATE	1205/2271	W402L	CENPI_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000362018		CCDS14479.1			1	
REV3L	0	LGGM	GRCh37	6	111694408	111694408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	89	5	.	.	ENST00000358835.3:c.5150G>T	p.Trp1717Leu	p.W1717L	ENST00000358835		1717	tGg/tTg	0	1	1	UPI0000140023	0	NA	ENST00000358835		ENSG00000009413	9968		94	1.23		HGNC	p.W1717L		REV3L		SNV							ENST00000358835	protein_coding	getma.org/?cm=var&var=hg19,6,111694408,C,A&fts=all		hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		W/L		A	low	5605/10789		getma.org/?cm=msa&ty=f&p=DPOLZ_HUMAN&rb=1027&re=1865&var=W1717L	tolerated_low_confidence(0.14)	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,missense_variant,p.Trp1639Leu,ENST00000435970,NM_001286432.1;REV3L,missense_variant,p.Trp1717Leu,ENST00000358835,;REV3L,missense_variant,p.Trp1717Leu,ENST00000368802,NM_002912.3;REV3L,missense_variant,p.Trp1717Leu,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							MODERATE	5150/9393	W1717L	DPOLZ_HUMAN			Transcript		benign(0.039)	.	ENSP00000351697		CCDS5091.2			1	
GPR32	0	LGGM	GRCh37	19	51274894	51274894	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	61	5	.	.	ENST00000270590.4:c.1037C>T	p.Ser346Leu	p.S346L	ENST00000270590	NM_001506.2	346	tCa/tTa	0	1	1	UPI000005045C	0	NA	ENST00000270590		ENSG00000142511	4487		66	0		HGNC	p.S346L		GPR32		SNV							ENST00000270590	protein_coding	getma.org/?cm=var&var=hg19,19,51274894,C,T&fts=all		hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF27		S/L		T	neutral	1174/1269		getma.org/?cm=msa&ty=f&p=GPR32_HUMAN&rb=317&re=356&var=S346L	deleterious(0.03)	H9NIL6_HUMAN			YES	GPR32,missense_variant,p.Ser346Leu,ENST00000270590,NM_001506.2;CTD-2568A17.1,downstream_gene_variant,,ENST00000563228,;							MODERATE	1037/1071	S346L	GPR32_HUMAN			Transcript		benign(0.058)	.	ENSP00000270590		CCDS12801.1			1	
EDC4	0	LGGM	GRCh37	16	67915709	67915709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	19	5	.	.	ENST00000358933.5:c.2965C>A	p.His989Asn	p.H989N	ENST00000358933	NM_014329.4	989	Cac/Aac	0	1	1	UPI0000141377	0	NA	ENST00000358933		ENSG00000038358	17157		24	0.895		HGNC	p.H989N		EDC4		SNV							ENST00000358933	protein_coding	getma.org/?cm=var&var=hg19,16,67915709,C,A&fts=all		hmmpanther:PTHR15598		H/N		A	low	3204/4800		getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=606&re=1093&var=H989N	deleterious(0.03)				YES	EDC4,missense_variant,p.His989Asn,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,,ENST00000575514,;EDC4,downstream_gene_variant,,ENST00000536072,;EDC4,downstream_gene_variant,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575507,;EDC4,downstream_gene_variant,,ENST00000572724,;							MODERATE	2965/4206	H989N	EDC4_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000351811		CCDS10849.1			1	
SLC37A3	0	LGGM	GRCh37	7	140037130	140037130	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	5	.	.	ENST00000326232.9:c.1346G>T	p.Arg449Leu	p.R449L	ENST00000326232	NM_207113.1	449	cGg/cTg	0	1	1	UPI0000141890	0		ENST00000326232		ENSG00000157800	20651		42			HGNC	p.R449L		SLC37A3		SNV							ENST00000326232	protein_coding			PROSITE_profiles:PS50850,hmmpanther:PTHR11662:SF11,hmmpanther:PTHR11662,Gene3D:1.20.1250.20,PIRSF_domain:PIRSF002808,Superfamily_domains:SSF103473		R/L		A		1550/3349			deleterious(0.01)	F8WF28_HUMAN			YES	SLC37A3,missense_variant,p.Arg449Leu,ENST00000326232,NM_207113.1;SLC37A3,missense_variant,p.Arg433Leu,ENST00000447932,NM_001287498.1;SLC37A3,missense_variant,p.Arg88Leu,ENST00000498469,;SLC37A3,missense_variant,p.Arg36Leu,ENST00000492027,;SLC37A3,missense_variant,p.Arg87Leu,ENST00000477006,;SLC37A3,synonymous_variant,p.=,ENST00000340308,NM_032295.2;SLC37A3,synonymous_variant,p.=,ENST00000491357,;SLC37A3,synonymous_variant,p.=,ENST00000485734,;SLC37A3,intron_variant,,ENST00000469636,;SLC37A3,intron_variant,,ENST00000485538,;SLC37A3,3_prime_UTR_variant,,ENST00000477571,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000473060,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000460560,;SLC37A3,non_coding_transcript_exon_variant,,ENST00000485139,;							MODERATE	1346/1485		SPX3_HUMAN			Transcript		benign(0.011)	.	ENSP00000321498		CCDS5859.1			1	
FRRS1	0	LGGM	GRCh37	1	100194124	100194124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	63	5	.	.	ENST00000287474.5:c.931C>A	p.Leu311Ile	p.L311I	ENST00000287474	NM_001013660.2	311	Ctt/Att	0	1	1	UPI000042037B	0	NA	ENST00000287474		ENSG00000156869	27622		68	0.69		HGNC	p.L311I		FRRS1		SNV							ENST00000287474	protein_coding	getma.org/?cm=var&var=hg19,1,100194124,G,T&fts=all		PROSITE_profiles:PS50836,hmmpanther:PTHR23130:SF6,hmmpanther:PTHR23130,Pfam_domain:PF03351,SMART_domains:SM00664		L/I		T	neutral	1533/2678		getma.org/?cm=msa&ty=f&p=FRRS1_HUMAN&rb=214&re=331&var=L311I	tolerated(0.26)				YES	FRRS1,missense_variant,p.Leu311Ile,ENST00000414213,;FRRS1,missense_variant,p.Leu311Ile,ENST00000287474,NM_001013660.2;							MODERATE	931/1881	L311I	FRRS1_HUMAN			Transcript		benign(0.044)	.	ENSP00000287474		CCDS30780.1			1	
LTBP1	0	LGGM	GRCh37	2	33500116	33500116	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	59	5	.	.	ENST00000404816.2:c.2828C>A	p.Pro943Gln	p.P943Q	ENST00000404816		943	cCa/cAa	0	1	1	UPI000173A4A4	0	getma.org/pdb.php?prot=LTBP1_HUMAN&from=915&to=955&var=P943Q	ENST00000404816		ENSG00000049323	6714		64	1.895		HGNC	p.P618Q		LTBP1		SNV							ENST00000390003	protein_coding	getma.org/?cm=var&var=hg19,2,33500116,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184		P/Q		A	low	3181/6333		getma.org/?cm=msa&ty=f&p=LTBP1_HUMAN&rb=915&re=955&var=P943Q	tolerated(0.52)	H7C2H7_HUMAN			YES	LTBP1,missense_variant,p.Pro943Gln,ENST00000404816,;LTBP1,missense_variant,p.Pro944Gln,ENST00000354476,NM_206943.2;LTBP1,missense_variant,p.Pro618Gln,ENST00000390003,NM_000627.3;LTBP1,missense_variant,p.Pro617Gln,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Pro564Gln,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Pro617Gln,ENST00000407925,;LTBP1,missense_variant,p.Pro564Gln,ENST00000402934,;LTBP1,upstream_gene_variant,,ENST00000415140,;LTBP1,downstream_gene_variant,,ENST00000413303,;LTBP1,downstream_gene_variant,,ENST00000468091,;							MODERATE	2828/5166	P943Q	LTBP1_HUMAN			Transcript		benign(0.006)	.	ENSP00000386043		CCDS33177.2			1	
EXD2	0	LGGM	GRCh37	14	69707663	69707663	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	5	5	.	.	ENST00000409018.3:c.1712G>A	p.Gly571Asp	p.G571D	ENST00000409018	NM_001193361.1	571	gGc/gAc	0	1		UPI0000577ED7	0	NA	ENST00000312994		ENSG00000081177	20217		10	2.19		HGNC	p.G571D		EXD2		SNV							ENST00000409018	protein_coding	getma.org/?cm=var&var=hg19,14,69707663,G,A&fts=all		hmmpanther:PTHR13620:SF0,hmmpanther:PTHR13620		G/D		A	medium	1993/2496		getma.org/?cm=msa&ty=f&p=EXD2_HUMAN&rb=136&re=494&var=G446D	deleterious(0.01)	C9JLF4_HUMAN				EXD2,missense_variant,p.Gly446Asp,ENST00000409014,NM_001193360.1;EXD2,missense_variant,p.Gly571Asp,ENST00000409018,NM_001193361.1;EXD2,missense_variant,p.Gly446Asp,ENST00000449989,;EXD2,missense_variant,p.Gly446Asp,ENST00000409675,NM_018199.3;EXD2,missense_variant,p.Gly446Asp,ENST00000409949,NM_001193362.1;EXD2,missense_variant,p.Gly571Asp,ENST00000312994,;EXD2,missense_variant,p.Gly446Asp,ENST00000409242,NM_001193363.1;RP11-363J20.2,intron_variant,,ENST00000556316,;EXD2,non_coding_transcript_exon_variant,,ENST00000492815,;EXD2,downstream_gene_variant,,ENST00000465286,;							MODERATE	1712/1866	G446D	EXD2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000313140		CCDS53902.1			1	
BTBD17	0	LGGM	GRCh37	17	72356223	72356223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	5	.	.	ENST00000375366.3:c.247C>A	p.His83Asn	p.H83N	ENST00000375366	NM_001080466.1	83	Cac/Aac	0	1	1	UPI00001D7961	0	NA	ENST00000375366		ENSG00000204347	33758		34	3.18		HGNC	p.H83N		BTBD17		SNV							ENST00000375366	protein_coding	getma.org/?cm=var&var=hg19,17,72356223,G,T&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097,hmmpanther:PTHR24410,SMART_domains:SM00225,Superfamily_domains:SSF54695		H/N		T	medium	374/1805		getma.org/?cm=msa&ty=f&p=BTBDH_HUMAN&rb=53&re=162&var=H83N	deleterious(0)				YES	BTBD17,missense_variant,p.His83Asn,ENST00000375366,NM_001080466.1;KIF19,downstream_gene_variant,,ENST00000389916,NM_153209.3;							MODERATE	247/1437	H83N	BTBDH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364515		CCDS32719.1			1	
MAP3K10	0	LGGM	GRCh37	19	40715108	40715108	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	71	5	.	.	ENST00000253055.3:c.1534C>A	p.Arg512=	p.R512=	ENST00000253055	NM_002446.3	512	Cgg/Agg	0	1	1	UPI000013CDAC	0		ENST00000253055		ENSG00000130758	6849		76			HGNC	p.R512R		MAP3K10		SNV							ENST00000253055	protein_coding			PIRSF_domain:PIRSF000556,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370		R		A		1822/3436							YES	MAP3K10,synonymous_variant,p.=,ENST00000253055,NM_002446.3;MAP3K10,downstream_gene_variant,,ENST00000593906,;MAP3K10,synonymous_variant,p.=,ENST00000597986,;MAP3K10,synonymous_variant,p.=,ENST00000593502,;MAP3K10,3_prime_UTR_variant,,ENST00000594951,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000594791,;MAP3K10,downstream_gene_variant,,ENST00000601702,;MAP3K10,downstream_gene_variant,,ENST00000594569,;							LOW	1534/2865		M3K10_HUMAN			Transcript			.	ENSP00000253055		CCDS12549.1			1	
ZMYND11	0	LGGM	GRCh37	10	282839	282839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	5	.	.	ENST00000397962.3:c.500C>A	p.Ser167Tyr	p.S167Y	ENST00000397962		167	tCc/tAc	0	1		UPI0000458A5F	0	NA	ENST00000381591		ENSG00000015171	16966		48	0		HGNC	p.S10Y		ZMYND11		SNV							ENST00000535374	protein_coding	getma.org/?cm=var&var=hg19,10,282839,C,A&fts=all		Superfamily_domains:SSF47370,SMART_domains:SM00297,hmmpanther:PTHR24102		S/Y		A	neutral	753/4229		getma.org/?cm=msa&ty=f&p=ZMY11_HUMAN&rb=122&re=203&var=S127Y	tolerated(1)					ZMYND11,missense_variant,p.Ser127Tyr,ENST00000309776,NM_001202466.1,NM_006624.5;ZMYND11,missense_variant,p.Ser167Tyr,ENST00000397962,;ZMYND11,missense_variant,p.Ser167Tyr,ENST00000381591,;ZMYND11,missense_variant,p.Ser167Tyr,ENST00000402736,;ZMYND11,missense_variant,p.Ser73Tyr,ENST00000381607,NM_001202464.1;ZMYND11,missense_variant,p.Ser150Tyr,ENST00000381584,;ZMYND11,missense_variant,p.Ser127Tyr,ENST00000381604,;ZMYND11,missense_variant,p.Ser127Tyr,ENST00000381602,NM_212479.3;ZMYND11,missense_variant,p.Ser167Tyr,ENST00000509513,;ZMYND11,missense_variant,p.Ser167Tyr,ENST00000558098,NM_001202467.1,NM_001202468.1;ZMYND11,missense_variant,p.Ser113Tyr,ENST00000397959,NM_001202465.1;ZMYND11,missense_variant,p.Ser113Tyr,ENST00000602682,;ZMYND11,missense_variant,p.Ser113Tyr,ENST00000403354,;ZMYND11,missense_variant,p.Ser73Tyr,ENST00000545619,;ZMYND11,missense_variant,p.Ser10Tyr,ENST00000535374,;ZMYND11,missense_variant,p.Ser113Tyr,ENST00000439456,;ZMYND11,missense_variant,p.Ser182Tyr,ENST00000397955,;ZMYND11,upstream_gene_variant,,ENST00000488275,;							MODERATE	500/1809	S127Y	ZMY11_HUMAN			Transcript		benign(0.013)	.	ENSP00000371003		CCDS7052.2			1	
MACF1	0	LGGM	GRCh37	1	39797842	39797842	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	64	5	.	.	ENST00000545844.1:c.4629+4817C>A		*1543*	ENST00000545844				0	1		UPI0001F78894	0	getma.org/pdb.php?prot=H3BPE1_HUMAN&from=1801&to=2000&var=P1861Q	ENST00000372915		ENSG00000127603	13664		69	1.905		HGNC	p.P1861Q		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39797842,C,A&fts=all		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00250,Superfamily_domains:SSF75399		P/Q		A	medium	5684/23440		getma.org/?cm=msa&ty=f&p=H3BPE1_HUMAN&rb=1801&re=2000&var=P1861Q		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Pro1861Gln,ENST00000564288,;MACF1,missense_variant,p.Pro1898Gln,ENST00000567887,;MACF1,missense_variant,p.Pro1866Gln,ENST00000372915,;MACF1,missense_variant,p.Pro301Gln,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,;MACF1,downstream_gene_variant,,ENST00000496804,;							MODERATE	5597/22167	P1861Q	MACF1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000362006					1	
ANK3	0	LGGM	GRCh37	10	61830459	61830459	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	80	5	.	.	ENST00000280772.2:c.10180G>T	p.Glu3394Ter	p.E3394*	ENST00000280772	NM_020987.3	3394	Gag/Tag	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		85	0		HGNC	p.E3394X		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61830459,C,A&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		E/*		A	NA	10372/16874		NA		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,stop_gained,p.Glu3394Ter,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,;							HIGH	10180/13134	E3394*	ANK3_HUMAN			Transcript			.	ENSP00000280772		CCDS7258.1			1	
IGF1R	0	LGGM	GRCh37	15	99491816	99491816	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	22	5	.	.	ENST00000268035.6:c.3601G>T	p.Val1201Phe	p.V1201F	ENST00000268035	NM_000875.3	1201	Gtc/Ttc	0	1	1	UPI000012D3EA	0	getma.org/pdb.php?prot=IGF1R_HUMAN&from=999&to=1266&var=V1201F	ENST00000268035		ENSG00000140443	5465		27	2.03		HGNC	p.V1200F		IGF1R		SNV			1				ENST00000558762	protein_coding	getma.org/?cm=var&var=hg19,15,99491816,G,T&fts=all		Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,PIRSF_domain:PIRSF000620,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50011		V/F		T	medium	4212/11803		getma.org/?cm=msa&ty=f&p=IGF1R_HUMAN&rb=999&re=1266&var=V1201F	deleterious(0)	H0YNR0_HUMAN,H0YMJ5_HUMAN			YES	IGF1R,missense_variant,p.Val1201Phe,ENST00000268035,NM_000875.3;IGF1R,missense_variant,p.Val1200Phe,ENST00000558762,;IGF1R,upstream_gene_variant,,ENST00000558751,;							MODERATE	3601/4104	V1201F	IGF1R_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000268035		CCDS10378.1			1	
HIPK2	0	LGGM	GRCh37	7	139288929	139288929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	79	5	.	.	ENST00000406875.3:c.2153C>A	p.Pro718Gln	p.P718Q	ENST00000406875	NM_022740.4	718	cCa/cAa	0	1	1	UPI000012C71E	0		ENST00000406875		ENSG00000064393	14402		84			HGNC	p.P718Q		HIPK2		SNV							ENST00000406875	protein_coding			hmmpanther:PTHR24058:SF45,hmmpanther:PTHR24058		P/Q		T		2248/15049			deleterious(0)	A4D1R9_HUMAN			YES	HIPK2,missense_variant,p.Pro718Gln,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Pro691Gln,ENST00000428878,;HIPK2,missense_variant,p.Pro718Gln,ENST00000342645,;							MODERATE	2153/3597		HIPK2_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000385571					1	
MFAP3	0	LGGM	GRCh37	5	153432616	153432616	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	71	5	.	.	ENST00000436816.1:c.432G>T	p.Ser144=	p.S144=	ENST00000436816	NM_005927.4	144	tcG/tcT	0	1		UPI00000012A1	0		ENST00000322602		ENSG00000037749	7034		76			HGNC	p.S144S		MFAP3		SNV							ENST00000436816	protein_coding			hmmpanther:PTHR14340,hmmpanther:PTHR14340:SF3		S		T		914/2891				E5RJ59_HUMAN,E5RHQ6_HUMAN				MFAP3,synonymous_variant,p.=,ENST00000436816,NM_005927.4,NM_001242336.1;MFAP3,synonymous_variant,p.=,ENST00000322602,;MFAP3,5_prime_UTR_variant,,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,;							LOW	432/1089		MFAP3_HUMAN			Transcript			.	ENSP00000322956		CCDS4324.1			1	
PCNT	0	LGGM	GRCh37	21	47821540	47821540	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	45	5	.	.	ENST00000359568.5:c.4867G>T	p.Gly1623Cys	p.G1623C	ENST00000359568	NM_006031.5	1623	Ggc/Tgc	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		50	1.995		HGNC	p.G1623C		PCNT		SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47821540,G,T&fts=all		hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		G/C		T	medium	4974/10560		getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=1301&re=1799&var=G1623C					YES	PCNT,missense_variant,p.Gly1623Cys,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;							MODERATE	4867/10011	G1623C	PCNT_HUMAN			Transcript		possibly_damaging(0.591)	.	ENSP00000352572		CCDS33592.1			1	
MYO1B	0	LGGM	GRCh37	2	192280902	192280902	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	77	5	.	.	ENST00000392318.3:c.3221C>A	p.Ala1074Asp	p.A1074D	ENST00000392318	NM_001130158.1	1074	gCc/gAc	0	1		UPI00001A9466	0	NA	ENST00000304164		ENSG00000128641	7596		82	1.04		HGNC	p.A1045D		MYO1B		SNV							ENST00000392316	protein_coding	getma.org/?cm=var&var=hg19,2,192280902,C,A&fts=all		Pfam_domain:PF06017,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277		A/D		A	low	3314/4933		getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=940&re=1136&var=A1074D	deleterious(0.01)	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN				MYO1B,missense_variant,p.Ala1074Asp,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Ala1016Asp,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Ala1074Asp,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Ala1045Asp,ENST00000392316,;MYO1B,missense_variant,p.Ala319Asp,ENST00000439065,;MYO1B,missense_variant,p.Ala153Asp,ENST00000427152,;MYO1B,non_coding_transcript_exon_variant,,ENST00000490069,;							MODERATE	3221/3411	A1074D	MYO1B_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000306382		CCDS46477.1			1	
DTNA	0	LGGM	GRCh37	18	32407618	32407618	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	84	5	.	.	ENST00000598334.1:c.1063G>T	p.Gly355Ter	p.G355*	ENST00000598334	NM_001198938.1	355	Gga/Tga	0	1		UPI000013DD3C	0	NA	ENST00000399113		ENSG00000134769	3057		89	0		HGNC	p.G355X		DTNA		SNV			1				ENST00000348997	protein_coding	getma.org/?cm=var&var=hg19,18,32407618,G,T&fts=all		hmmpanther:PTHR11915:SF268,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204		G/*		T	NA	1072/2232		NA		M0R0C4_HUMAN,K7ERZ2_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN				DTNA,stop_gained,p.Gly358Ter,ENST00000283365,NM_032975.3;DTNA,stop_gained,p.Gly355Ter,ENST00000399121,NM_001198939.1;DTNA,stop_gained,p.Gly358Ter,ENST00000444659,NM_001390.4;DTNA,stop_gained,p.Gly359Ter,ENST00000269190,;DTNA,stop_gained,p.Gly37Ter,ENST00000399097,;DTNA,stop_gained,p.Gly355Ter,ENST00000595022,NM_001198940.1;DTNA,stop_gained,p.Gly355Ter,ENST00000348997,NM_032978.6;DTNA,stop_gained,p.Gly358Ter,ENST00000269191,NM_001391.5;DTNA,stop_gained,p.Gly355Ter,ENST00000598334,NM_001198938.1;DTNA,stop_gained,p.Gly358Ter,ENST00000598142,;DTNA,stop_gained,p.Gly358Ter,ENST00000598774,NM_032979.4;DTNA,stop_gained,p.Gly358Ter,ENST00000399113,;DTNA,stop_gained,p.Gly37Ter,ENST00000269192,NM_001198942.1;DTNA,stop_gained,p.Gly37Ter,ENST00000601125,NM_001198943.1;DTNA,stop_gained,p.Gly355Ter,ENST00000597599,NM_001198941.1;DTNA,stop_gained,p.Gly37Ter,ENST00000591182,NM_032980.3;DTNA,stop_gained,p.Gly37Ter,ENST00000597674,NM_032981.4;DTNA,stop_gained,p.Gly358Ter,ENST00000315456,NM_001392.4;DTNA,stop_gained,p.Gly355Ter,ENST00000554864,NM_001128175.1;DTNA,stop_gained,p.Gly37Ter,ENST00000556414,NM_001198944.1;DTNA,stop_gained,p.Gly37Ter,ENST00000599844,;DTNA,stop_gained,p.Gly14Ter,ENST00000587723,;DTNA,incomplete_terminal_codon_variant,p.=,ENST00000590727,;DTNA,intron_variant,,ENST00000596745,NM_001198945.1;DTNA,non_coding_transcript_exon_variant,,ENST00000601632,;DTNA,non_coding_transcript_exon_variant,,ENST00000601895,;							HIGH	1072/2232	G358*	DTNA_HUMAN			Transcript			.	ENSP00000382064					1	
ANKRD24	0	LGGM	GRCh37	19	4216880	4216880	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	12	6	.	.	ENST00000600132.1:c.1723A>C	p.Arg575=	p.R575=	ENST00000600132	NM_133475.1	575	Agg/Cgg	0	1		UPI000041F5A9	0		ENST00000318934		ENSG00000089847	29424		18			HGNC	p.R575R		ANKRD24		SNV							ENST00000600132	protein_coding			hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8,Low_complexity_(Seg):seg		R		C		1879/3906								ANKRD24,synonymous_variant,p.=,ENST00000600132,NM_133475.1;ANKRD24,synonymous_variant,p.=,ENST00000318934,;ANKRD24,synonymous_variant,p.=,ENST00000262970,;ANKRD24,synonymous_variant,p.=,ENST00000597689,;ANKRD24,downstream_gene_variant,,ENST00000595096,;							LOW	1723/3441		ANR24_HUMAN			Transcript			.	ENSP00000321731		CCDS45925.1			1	
MAST4	0	LGGM	GRCh37	5	66459657	66459657	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	101	6	.	.	ENST00000403625.2:c.4650C>A	p.Ser1550=	p.S1550=	ENST00000403625	NM_001164664.1	1550	tcC/tcA	0	1	1	UPI000173A2B0	0		ENST00000403625		ENSG00000069020	19037		107			HGNC	p.S1371S		MAST4		SNV							ENST00000405643	protein_coding					S		A		4945/10711				J3QT34_HUMAN			YES	MAST4,synonymous_variant,p.=,ENST00000404260,;MAST4,synonymous_variant,p.=,ENST00000403625,NM_001164664.1;MAST4,synonymous_variant,p.=,ENST00000405643,;MAST4,synonymous_variant,p.=,ENST00000261569,;MAST4,synonymous_variant,p.=,ENST00000403666,NM_015183.2;MAST4,synonymous_variant,p.=,ENST00000443808,;							LOW	4650/7872					Transcript			.	ENSP00000385727		CCDS54861.1			1	
IGLV6-57	0	LGGM	GRCh37	22	22550442	22550442	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	1	6	.	.	ENST00000390285.3:c.119C>T	p.Ser40Phe	p.S40F	ENST00000390285		40	tCc/tTc	0	1	1	UPI000049DF7D	0		ENST00000390285		ENSG00000211640	5927		7			HGNC	p.S40F		IGLV6-57		SNV							ENST00000390285	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF108,hmmpanther:PTHR23267,PROSITE_profiles:PS50835		S/F		T		205/623			deleterious_low_confidence(0)	Q5NV88_HUMAN			YES	IGLV6-57,missense_variant,p.Ser40Phe,ENST00000390285,;IGLVI-56,upstream_gene_variant,,ENST00000521342,;							MODERATE	119/447					Transcript		probably_damaging(0.999)	.	ENSP00000374820					1	
OR2T33	0	LGGM	GRCh37	1	248436887	248436887	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	6	.	.	ENST00000318021.2:c.230C>A	p.Pro77His	p.P77H	ENST00000318021	NM_001004695.1	77	cCc/cAc	0	1	1	UPI000004B237	0	getma.org/pdb.php?prot=O2T33_HUMAN&from=1&to=136&var=P77H	ENST00000318021		ENSG00000177212	31255		36	4.13		HGNC	p.P77H		OR2T33		SNV							ENST00000318021	protein_coding	getma.org/?cm=var&var=hg19,1,248436887,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF83,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		P/H		T	high	252/1066		getma.org/?cm=msa&ty=f&p=O2T33_HUMAN&rb=1&re=136&var=P77H	deleterious(0)				YES	OR2T33,missense_variant,p.Pro77His,ENST00000318021,NM_001004695.1;							MODERATE	230/963	P77H	O2T33_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324687		CCDS31109.1			1	
ADNP	0	LGGM	GRCh37	20	49510694	49510694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	107	6	.	.	ENST00000396029.3:c.557G>T	p.Arg186Met	p.R186M	ENST00000396029	NM_015339.2	186	aGg/aTg	0	1		UPI00000375B9	0	NA	ENST00000349014		ENSG00000101126	15766		113	1.52		HGNC	p.R186M		ADNP		SNV			1				ENST00000371602	protein_coding	getma.org/?cm=var&var=hg19,20,49510694,C,A&fts=all		hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1,SMART_domains:SM00355		R/M		A	low	854/5963		getma.org/?cm=msa&ty=f&p=ADNP_HUMAN&rb=1&re=200&var=R186M	tolerated(0.26)	E9PQK8_HUMAN				ADNP,missense_variant,p.Arg186Met,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,missense_variant,p.Arg186Met,ENST00000371602,;ADNP,missense_variant,p.Arg186Met,ENST00000349014,NM_001282532.1;ADNP,missense_variant,p.Arg186Met,ENST00000396032,NM_181442.1;ADNP,downstream_gene_variant,,ENST00000534467,;							MODERATE	557/3309	R186M	ADNP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000342905		CCDS13433.1			1	
HRG	0	LGGM	GRCh37	3	186395528	186395528	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	54	6	.	.	ENST00000232003.4:c.1434C>A	p.Pro478=	p.P478=	ENST00000232003	NM_000412.2	478	ccC/ccA	0	1	1	UPI000012CBC3	0		ENST00000232003		ENSG00000113905	5181		60			HGNC	p.P478P		HRG		SNV			1				ENST00000232003	protein_coding			hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF3		P		A		1514/2015							YES	HRG,synonymous_variant,p.=,ENST00000232003,NM_000412.2;HRG,non_coding_transcript_exon_variant,,ENST00000495413,;							LOW	1434/1578		HRG_HUMAN			Transcript			.	ENSP00000232003		CCDS3280.1			1	
ZC3H10	0	LGGM	GRCh37	12	56515384	56515384	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	6	.	.	ENST00000257940.2:c.1038A>G	p.Ala346=	p.A346=	ENST00000257940	NM_032786.1	346	gcA/gcG	0	1	1	UPI0000070771	0		ENST00000257940		ENSG00000135482	25893		20			HGNC	p.A346A		ZC3H10		SNV							ENST00000257940	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12675		A		G		1314/2208				F8VYY3_HUMAN,F8VSG0_HUMAN,F8VQT2_HUMAN			YES	ZC3H10,synonymous_variant,p.=,ENST00000257940,NM_032786.1;ESYT1,intron_variant,,ENST00000551790,;ZC3H10,downstream_gene_variant,,ENST00000551880,;ZC3H10,downstream_gene_variant,,ENST00000546903,;RPL41,downstream_gene_variant,,ENST00000546591,NM_001035267.1;ZC3H10,downstream_gene_variant,,ENST00000552345,;RPL41,downstream_gene_variant,,ENST00000501597,NM_021104.1;RP11-603J24.5,intron_variant,,ENST00000549438,;RP11-603J24.5,intron_variant,,ENST00000550947,;RP11-603J24.6,upstream_gene_variant,,ENST00000550840,;RPL41,downstream_gene_variant,,ENST00000552314,;ZC3H10,downstream_gene_variant,,ENST00000549973,;RPL41,downstream_gene_variant,,ENST00000358888,;RPL41,downstream_gene_variant,,ENST00000546485,;RPL41,downstream_gene_variant,,ENST00000546654,;							LOW	1038/1305		ZC3HA_HUMAN			Transcript			.	ENSP00000257940		CCDS8903.1			1	
SNX11	0	LGGM	GRCh37	17	46198838	46198838	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	61	6	.	.	ENST00000393405.2:c.781C>A	p.Pro261Thr	p.P261T	ENST00000393405	NM_152244.1	261	Cct/Act	0	1		UPI000003E7DA	0	NA	ENST00000359238		ENSG00000002919	14975		67	1.39		HGNC	p.P253T	COSM2150059	SNX11		SNV						1	ENST00000580219	protein_coding	getma.org/?cm=var&var=hg19,17,46198838,C,A&fts=all				P/T		A	low	1048/2315		getma.org/?cm=msa&ty=f&p=SNX11_HUMAN&rb=130&re=270&var=P261T	tolerated_low_confidence(0.05)	J3QRB9_HUMAN,J3QLV8_HUMAN,J3KTN6_HUMAN,B4DJI7_HUMAN				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,;					1		MODERATE	781/813	P261T	SNX11_HUMAN			Transcript		benign(0.004)	.	ENSP00000352175		CCDS11526.1			1	
TTN	0	LGGM	GRCh37	2	179417633	179417633	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	143	6	.	.	ENST00000589042.1:c.89994G>T	p.Ser29998=	p.S29998=	ENST00000589042	NM_001267550.1	29998	tcG/tcT	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		149			HGNC	p.S27430S		TTN		SNV			1				ENST00000342992	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		S		A		85296/104301				C9JQJ2_HUMAN				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,downstream_gene_variant,,ENST00000603415,;							LOW	85071/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CEP135	0	LGGM	GRCh37	4	56847432	56847432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	111	6	.	.	ENST00000257287.4:c.1666C>A	p.Gln556Lys	p.Q556K	ENST00000257287	NM_025009.4	556	Caa/Aaa	0	1	1	UPI00003CE420	0	NA	ENST00000257287		ENSG00000174799	29086		117	-0.115		HGNC	p.Q556K		CEP135		SNV			1				ENST00000257287	protein_coding	getma.org/?cm=var&var=hg19,4,56847432,C,A&fts=all		hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10		Q/K		A	neutral	1790/5562		getma.org/?cm=msa&ty=f&p=CP135_HUMAN&rb=271&re=887&var=Q556K	tolerated(1)				YES	CEP135,missense_variant,p.Gln556Lys,ENST00000257287,NM_025009.4;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;							MODERATE	1666/3423	Q556K	CP135_HUMAN			Transcript		benign(0.001)	.	ENSP00000257287		CCDS33986.1			1	
DNAH1	0	LGGM	GRCh37	3	52428647	52428647	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	114	6	.	.	ENST00000420323.2:c.10793G>T	p.Arg3598Leu	p.R3598L	ENST00000420323	NM_015512.4	3598	cGg/cTg	0	1	1	UPI0001AE79D6	0	getma.org/pdb.php?prot=DYH1_HUMAN&from=3619&to=4327&var=R3663L	ENST00000420323		ENSG00000114841	2940		120	2.135		HGNC	p.R3598L		DNAH1		SNV			1				ENST00000420323	protein_coding	getma.org/?cm=var&var=hg19,3,52428647,G,T&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137		R/L		T	medium	11054/13104		getma.org/?cm=msa&ty=f&p=DYH1_HUMAN&rb=3619&re=4327&var=R3663L					YES	DNAH1,missense_variant,p.Arg3598Leu,ENST00000420323,NM_015512.4;DNAH1,downstream_gene_variant,,ENST00000480649,;DNAH1,missense_variant,p.Arg498Leu,ENST00000490713,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,non_coding_transcript_exon_variant,,ENST00000487254,;							MODERATE	10793/12798	R3663L	DYH1_HUMAN			Transcript		benign(0.217)	.	ENSP00000401514		CCDS46842.1			1	
ANAPC1	0	LGGM	GRCh37	2	112622400	112622400	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	7	.	.	ENST00000341068.3:c.814C>T	p.Arg272Trp	p.R272W	ENST00000341068	NM_022662.3	272	Cgg/Tgg	0	1	1	UPI000006EC6E	0	NA	ENST00000341068		ENSG00000153107	19988		23	2.175		HGNC	p.R272W	rs747524926	ANAPC1		SNV							ENST00000341068	protein_coding	getma.org/?cm=var&var=hg19,2,112622400,G,A&fts=all		hmmpanther:PTHR12827		R/W		A	medium	1587/8259	3.34E-05	getma.org/?cm=msa&ty=f&p=APC1_HUMAN&rb=228&re=427&var=R272W	deleterious(0)				YES	ANAPC1,missense_variant,p.Arg272Trp,ENST00000341068,NM_022662.3;ANAPC1,downstream_gene_variant,,ENST00000451367,;AC093166.4,upstream_gene_variant,,ENST00000448785,;							MODERATE	814/5835	R272W	APC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339109	8.36E-06	CCDS2093.1			1	
FAM135A	0	LGGM	GRCh37	6	71236193	71236193	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	95	7	.	.	ENST00000418814.2:c.3406G>A	p.Asp1136Asn	p.D1136N	ENST00000418814	NM_001162529.1	1136	Gac/Aac	0	1		UPI0000D61481	0	NA	ENST00000370479		ENSG00000082269	21084		102	0.895		HGNC	p.D923N		FAM135A		SNV							ENST00000457062	protein_coding	getma.org/?cm=var&var=hg19,6,71236193,G,A&fts=all		hmmpanther:PTHR12482:SF12,hmmpanther:PTHR12482		D/N		A	low	3285/5676		getma.org/?cm=msa&ty=f&p=F135A_HUMAN&rb=970&re=1169&var=D1136N	tolerated(0.12)					FAM135A,missense_variant,p.Asp1136Asn,ENST00000418814,NM_001162529.1,NM_001105531.2;FAM135A,missense_variant,p.Asp923Asn,ENST00000370479,;FAM135A,missense_variant,p.Asp923Asn,ENST00000457062,NM_020819.4;FAM135A,missense_variant,p.Asp1136Asn,ENST00000505868,;FAM135A,missense_variant,p.Asp940Asn,ENST00000361499,;FAM135A,missense_variant,p.Asp716Asn,ENST00000505769,;FAM135A,downstream_gene_variant,,ENST00000515323,;FAM135A,3_prime_UTR_variant,,ENST00000194672,;FAM135A,downstream_gene_variant,,ENST00000393299,;							MODERATE	2767/3909	D1136N	F135A_HUMAN			Transcript		benign(0.003)	.	ENSP00000359510		CCDS34481.1			1	
NCOA3	0	LGGM	GRCh37	20	46268490	46268490	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	135	7	.	.	ENST00000371998.3:c.2877C>A	p.Pro959=	p.P959=	ENST00000371998		959	ccC/ccA	0	1	1	UPI000012FE45	0		ENST00000371998		ENSG00000124151	7670		142			HGNC	p.P889P		NCOA3		SNV							ENST00000341724	protein_coding			PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF3		P		A		3068/4668				Q569F6_HUMAN,B4DYT5_HUMAN			YES	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,;							LOW	2877/4275		NCOA3_HUMAN			Transcript			.	ENSP00000361066		CCDS13407.1			1	
KLHL31	0	LGGM	GRCh37	6	53516931	53516931	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	3	7	.	.	ENST00000370905.3:c.1370G>A	p.Cys457Tyr	p.C457Y	ENST00000370905	NM_001003760.4	457	tGc/tAc	0	1	1	UPI000006D624	0	getma.org/pdb.php?prot=KLH31_HUMAN&from=455&to=503&var=C457Y	ENST00000370905		ENSG00000124743	21353		10	1.315		HGNC	p.C457Y		KLHL31		SNV							ENST00000370905	protein_coding	getma.org/?cm=var&var=hg19,6,53516931,C,T&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF58,Gene3D:1k3iA02,Pfam_domain:PF13964,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		C/Y		T	low	1511/5743		getma.org/?cm=msa&ty=f&p=KLH31_HUMAN&rb=455&re=503&var=C457Y	tolerated(1)				YES	KLHL31,missense_variant,p.Cys457Tyr,ENST00000370905,NM_001003760.4;KLHL31,missense_variant,p.Cys457Tyr,ENST00000407079,;							MODERATE	1370/1905	C457Y	KLH31_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359942		CCDS34478.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266113	41266113	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	31	11	.	.	ENST00000349496.5:c.110C>G	p.Ser37Cys	p.S37C	ENST00000349496	NM_001904.3	37	tCt/tGt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37C	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		42	2.485		HGNC	p.S37C	rs121913403,COSM5679	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266113,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	390/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	110/2346	S37C	CTNB1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000344456		CCDS2694.1			1	
EPHB3	0	LGGM	GRCh37	3	184297721	184297721	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	8	.	.	ENST00000330394.2:c.2171G>A	p.Arg724Gln	p.R724Q	ENST00000330394	NM_004443.3	724	cGg/cAg	0	1	1	UPI0000161C94	0	getma.org/pdb.php?prot=EPHB3_HUMAN&from=633&to=892&var=R724Q	ENST00000330394		ENSG00000182580	3394		29	1.75		HGNC	p.R724Q	rs368055350,COSM1421393	EPHB3		SNV	A:0			0.000303		0,1	ENST00000330394	protein_coding	getma.org/?cm=var&var=hg19,3,184297721,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,SMART_domains:SM00219,Superfamily_domains:SSF56112		R/Q	A:0.0001	A	low	2623/4236	1.54E-05	getma.org/?cm=msa&ty=f&p=EPHB3_HUMAN&rb=633&re=892&var=R724Q	deleterious(0.03)	D3DNT9_HUMAN			YES	EPHB3,missense_variant,p.Arg724Gln,ENST00000330394,NM_004443.3;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,splice_region_variant,,ENST00000473079,;EPHB3,downstream_gene_variant,,ENST00000482987,;	0.000232				0,1		MODERATE	2171/2997	R724Q	EPHB3_HUMAN			Transcript		possibly_damaging(0.784)	.	ENSP00000332118	4.94E-05	CCDS3268.1			1	
TMEM190	0	LGGM	GRCh37	19	55889384	55889384	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	12	8	.	.	ENST00000291934.3:c.347T>A	p.Leu116Gln	p.L116Q	ENST00000291934	NM_139172.1	116	cTg/cAg	0	1	1	UPI000006F8C2	0	NA	ENST00000291934		ENSG00000160472	29632		20	0.805		HGNC	p.L116Q		TMEM190		SNV							ENST00000291934	protein_coding	getma.org/?cm=var&var=hg19,19,55889384,T,A&fts=all		Pfam_domain:PF15431		L/Q		A	low	365/593		getma.org/?cm=msa&ty=f&p=TM190_HUMAN&rb=1&re=176&var=L116Q	deleterious_low_confidence(0)				YES	TMEM190,missense_variant,p.Leu116Gln,ENST00000291934,NM_139172.1;TMEM238,downstream_gene_variant,,ENST00000444469,NM_001190764.1;CTD-2105E13.15,non_coding_transcript_exon_variant,,ENST00000595064,;							MODERATE	347/534	L116Q	TM190_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000291934		CCDS33113.1			1	
KIFAP3	0	LGGM	GRCh37	1	169953810	169953810	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	8	.	.	ENST00000361580.2:c.1306T>C	p.Cys436Arg	p.C436R	ENST00000361580	NM_014970.3	436	Tgt/Cgt	0	1	1	UPI000006CD6C	0	NA	ENST00000361580		ENSG00000075945	17060		37	1.445		HGNC	p.C436R		KIFAP3		SNV							ENST00000361580	protein_coding	getma.org/?cm=var&var=hg19,1,169953810,A,G&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF05804,hmmpanther:PTHR15605,Superfamily_domains:SSF48371		C/R		G	low	1534/2957		getma.org/?cm=msa&ty=f&p=KIFA3_HUMAN&rb=13&re=720&var=C436R	tolerated(0.34)	B7Z7E7_HUMAN			YES	KIFAP3,missense_variant,p.Cys396Arg,ENST00000367765,NM_001204517.1;KIFAP3,missense_variant,p.Cys358Arg,ENST00000538366,NM_001204514.1;KIFAP3,missense_variant,p.Cys436Arg,ENST00000361580,NM_014970.3;KIFAP3,missense_variant,p.Cys392Arg,ENST00000367767,NM_001204516.1;KIFAP3,missense_variant,p.Cys138Arg,ENST00000540905,;							MODERATE	1306/2379	C436R	KIFA3_HUMAN			Transcript		benign(0.157)	.	ENSP00000354560		CCDS1288.1			1	
ZSCAN22	0	LGGM	GRCh37	19	58846513	58846513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	8	8	.	.	ENST00000329665.4:c.345G>T	p.Lys115Asn	p.K115N	ENST00000329665	NM_181846.2	115	aaG/aaT	0	1	1	UPI00001A9CCE	0	getma.org/pdb.php?prot=ZSC22_HUMAN&from=43&to=137&var=K115N	ENST00000329665		ENSG00000182318	4929		16	1.755		HGNC	p.K115N		ZSCAN22		SNV							ENST00000329665	protein_coding	getma.org/?cm=var&var=hg19,19,58846513,G,T&fts=all		Superfamily_domains:SSF47353,SMART_domains:SM00431,Pfam_domain:PF02023,hmmpanther:PTHR23226:SF59,hmmpanther:PTHR23226,PROSITE_profiles:PS50804		K/N		T	low	492/4629		getma.org/?cm=msa&ty=f&p=ZSC22_HUMAN&rb=43&re=137&var=K115N	deleterious(0.01)				YES	ZSCAN22,missense_variant,p.Lys115Asn,ENST00000329665,NM_181846.2;							MODERATE	345/1476	K115N	ZSC22_HUMAN			Transcript		benign(0.135)	.	ENSP00000332433		CCDS12975.1			1	
OR2T12	0	LGGM	GRCh37	1	248458651	248458651	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	8	.	.	ENST00000317996.1:c.230C>A	p.Pro77His	p.P77H	ENST00000317996	NM_001004692.1	77	cCc/cAc	0	1	1	UPI000004B235	0	getma.org/pdb.php?prot=O2T12_HUMAN&from=1&to=136&var=P77H	ENST00000317996		ENSG00000177201	19592		14	4.1		HGNC	p.P77H		OR2T12		SNV							ENST00000317996	protein_coding	getma.org/?cm=var&var=hg19,1,248458651,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF83,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		P/H		T	high	230/963		getma.org/?cm=msa&ty=f&p=O2T12_HUMAN&rb=1&re=136&var=P77H	deleterious(0)				YES	OR2T12,missense_variant,p.Pro77His,ENST00000317996,NM_001004692.1;							MODERATE	230/963	P77H	O2T12_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324583		CCDS31110.1			1	
INSR	0	LGGM	GRCh37	19	7141806	7141806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	8	.	.	ENST00000302850.5:c.2564G>T	p.Gly855Val	p.G855V	ENST00000302850	NM_000208.2	855	gGc/gTc	0	1	1	UPI000020324D	0	getma.org/pdb.php?prot=INSR_HUMAN&from=855&to=937&var=G855V	ENST00000302850		ENSG00000171105	6091		29	2.45		HGNC	p.G855V		INSR		SNV			1				ENST00000302850	protein_coding	getma.org/?cm=var&var=hg19,19,7141806,C,A&fts=all		PIRSF_domain:PIRSF000620,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF140,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/V		A	medium	2707/4721		getma.org/?cm=msa&ty=f&p=INSR_HUMAN&rb=855&re=937&var=G855V	deleterious(0)	Q4U0V1_HUMAN,Q2PJC5_HUMAN,Q2PJC4_HUMAN,Q2PJC3_HUMAN,Q2PJC1_HUMAN,Q2MKP2_HUMAN,B4DTR7_HUMAN,A4ZPI8_HUMAN,A4ZPI7_HUMAN,A4ZPI5_HUMAN,A4ZPI3_HUMAN			YES	INSR,missense_variant,p.Gly843Val,ENST00000341500,NM_001079817.1;INSR,missense_variant,p.Gly855Val,ENST00000302850,NM_000208.2;INSR,non_coding_transcript_exon_variant,,ENST00000597211,;							MODERATE	2564/4149	G855V	INSR_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000303830		CCDS12176.1			1	
MAMDC4	0	LGGM	GRCh37	9	139753297	139753297	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	1	9	.	.	ENST00000317446.2:c.2948A>T	p.Glu983Val	p.E983V	ENST00000317446	NM_206920.2	983	gAg/gTg	0	1		UPI0000EE5638	0	NA	ENST00000445819		ENSG00000177943	24083		10	2.3		HGNC	p.E983V		MAMDC4		SNV							ENST00000317446	protein_coding	getma.org/?cm=var&var=hg19,9,139753297,A,T&fts=all		PROSITE_profiles:PS50060,hmmpanther:PTHR23282:SF63,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899		E/V		T	medium	3235/3895		getma.org/?cm=msa&ty=f&p=AEGP_HUMAN&rb=973&re=1138&var=E1062V	deleterious(0)					MAMDC4,missense_variant,p.Glu1062Val,ENST00000445819,;MAMDC4,missense_variant,p.Glu983Val,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,;MAMDC4,3_prime_UTR_variant,,ENST00000479475,;							MODERATE	3185/3651	E1062V	AEGP_HUMAN			Transcript		benign(0.386)	.	ENSP00000411339					1	
XPNPEP3	0	LGGM	GRCh37	22	41277818	41277818	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	19	10	.	.	ENST00000357137.4:c.226A>C	p.Arg76=	p.R76=	ENST00000357137	NM_022098.3	76	Aga/Cga	0	1	1	UPI00000401E0	0		ENST00000357137		ENSG00000196236	28052		29			HGNC	p.R53R		XPNPEP3		SNV			1				ENST00000544094	protein_coding			hmmpanther:PTHR10804,Gene3D:3.40.350.10,Pfam_domain:PF05195,SMART_domains:SM01011,Superfamily_domains:SSF53092		R		C		310/7988				B7ZBB4_HUMAN			YES	XPNPEP3,synonymous_variant,p.=,ENST00000357137,NM_022098.3;XPNPEP3,synonymous_variant,p.=,ENST00000544094,;XPNPEP3,synonymous_variant,p.=,ENST00000541156,;XPNPEP3,synonymous_variant,p.=,ENST00000414396,;XPNPEP3,non_coding_transcript_exon_variant,,ENST00000465258,;XPNPEP3,3_prime_UTR_variant,,ENST00000428799,;							LOW	226/1524		XPP3_HUMAN			Transcript			.	ENSP00000349658		CCDS14007.1			1	
PRKD1	0	LGGM	GRCh37	14	30107962	30107962	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	20	10	.	.	ENST00000331968.5:c.845C>G	p.Thr282Arg	p.T282R	ENST00000331968	NM_002742.2	282	aCa/aGa	0	1	1	UPI0000456761	0	getma.org/pdb.php?prot=KPCD1_HUMAN&from=271&to=323&var=T282R	ENST00000331968		ENSG00000184304	9407		30	3.98		HGNC	p.T282R		PRKD1		SNV			1				ENST00000331968	protein_coding	getma.org/?cm=var&var=hg19,14,30107962,G,C&fts=all		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000552,Prints_domain:PR00008,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR22968,SMART_domains:SM00109,Superfamily_domains:SSF57889		T/R		C	high	1075/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=271&re=323&var=T282R	deleterious(0)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Thr282Arg,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Thr290Arg,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000546371,;PRKD1,non_coding_transcript_exon_variant,,ENST00000551644,;PRKD1,non_coding_transcript_exon_variant,,ENST00000547441,;PRKD1,non_coding_transcript_exon_variant,,ENST00000468370,;							MODERATE	845/2739	T282R	KPCD1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000333568		CCDS9637.1			1	
MATK	0	LGGM	GRCh37	19	3781646	3781646	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	10	.	.	ENST00000395045.2:c.704A>G	p.His235Arg	p.H235R	ENST00000395045	NM_002378.3	235	cAt/cGt	0	1		UPI0000000C50	0	NA	ENST00000310132		ENSG00000007264	6906		43	1.1		HGNC	p.H115R		MATK		SNV							ENST00000587180	protein_coding	getma.org/?cm=var&var=hg19,19,3781646,T,C&fts=all		hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Gene3D:3.30.200.20,Superfamily_domains:SSF55550,Superfamily_domains:SSF56112		H/R		C	low	1100/2133		getma.org/?cm=msa&ty=f&p=MATK_HUMAN&rb=197&re=234&var=H234R	tolerated(0.1)	K7ERY4_HUMAN,K7EQV3_HUMAN,K7ENL8_HUMAN,F1T0G6_HUMAN				MATK,missense_variant,p.His234Arg,ENST00000310132,NM_139355.2;MATK,missense_variant,p.His235Arg,ENST00000395045,NM_002378.3;MATK,missense_variant,p.His234Arg,ENST00000585778,;MATK,missense_variant,p.His193Arg,ENST00000395040,NM_139354.2;MATK,missense_variant,p.His149Arg,ENST00000590493,;MATK,missense_variant,p.His115Arg,ENST00000587180,;MATK,missense_variant,p.His141Arg,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590028,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590980,;							MODERATE	701/1524	H234R	MATK_HUMAN			Transcript		benign(0.051)	.	ENSP00000308734		CCDS12114.1			1	
NR4A1	0	LGGM	GRCh37	12	52448977	52448977	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	9	10	.	.	ENST00000360284.3:c.904G>T	p.Gly302Cys	p.G302C	ENST00000360284	NM_001202233.1	302	Ggc/Tgc	0	1		UPI000013047C	0	getma.org/pdb.php?prot=NR4A1_HUMAN&from=265&to=334&var=G289C	ENST00000243050		ENSG00000123358	7980		19	3.11		HGNC	p.G289C		NR4A1		SNV							ENST00000548232	protein_coding	getma.org/?cm=var&var=hg19,12,52448977,G,T&fts=all		PROSITE_profiles:PS51030,hmmpanther:PTHR24085:SF1,hmmpanther:PTHR24085,PROSITE_patterns:PS00031,Gene3D:3.30.50.10,Pfam_domain:PF00105,SMART_domains:SM00399,Superfamily_domains:SSF57716,Prints_domain:PR00047		G/C		T	medium	1179/2668		getma.org/?cm=msa&ty=f&p=NR4A1_HUMAN&rb=265&re=334&var=G289C	deleterious(0)	H3BPN8_HUMAN				NR4A1,missense_variant,p.Gly343Cys,ENST00000545748,;NR4A1,missense_variant,p.Gly289Cys,ENST00000243050,NM_002135.4;NR4A1,missense_variant,p.Gly289Cys,ENST00000394824,;NR4A1,missense_variant,p.Gly289Cys,ENST00000394825,NM_173157.2;NR4A1,missense_variant,p.Gly302Cys,ENST00000360284,NM_001202233.1;NR4A1,missense_variant,p.Gly302Cys,ENST00000550082,;NR4A1,missense_variant,p.Gly302Cys,ENST00000546842,;NR4A1,missense_variant,p.Gly289Cys,ENST00000548232,;NR4A1,intron_variant,,ENST00000550763,;NR4A1,downstream_gene_variant,,ENST00000562373,;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,;							MODERATE	865/1797	G289C	NR4A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000243050		CCDS8818.1			1	
TCEA1	0	LGGM	GRCh37	8	54900787	54900787	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	66	10	.	.	ENST00000521604.2:c.353A>T	p.Asp118Val	p.D118V	ENST00000521604	NM_006756.2	118	gAt/gTt	0	1	1	UPI0000136ABE	0	NA	ENST00000521604		ENSG00000187735	11612		76	0.345		HGNC	p.D97V		TCEA1		SNV							ENST00000396401	protein_coding	getma.org/?cm=var&var=hg19,8,54900787,T,A&fts=all		hmmpanther:PTHR11477:SF1,hmmpanther:PTHR11477,TIGRFAM_domain:TIGR01385,PIRSF_domain:PIRSF006704		D/V		A	neutral	757/2858		getma.org/?cm=msa&ty=f&p=TCEA1_HUMAN&rb=79&re=135&var=D118V	tolerated(0.2)				YES	TCEA1,missense_variant,p.Asp118Val,ENST00000521604,NM_006756.2;TCEA1,missense_variant,p.Asp97Val,ENST00000396401,NM_201437.1;TCEA1,intron_variant,,ENST00000522635,;TCEA1,non_coding_transcript_exon_variant,,ENST00000521086,;TCEA1,non_coding_transcript_exon_variant,,ENST00000522397,;							MODERATE	353/906	D118V	TCEA1_HUMAN			Transcript		benign(0.002)	.	ENSP00000428426		CCDS47858.1			1	
SFR1	0	LGGM	GRCh37	10	105882551	105882551	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	11	.	.	ENST00000369727.3:c.14-172G>C		*5*	ENST00000369727	NM_001002759.1			0	1	1	UPI00001F9699	0		ENST00000369727		ENSG00000156384	29574		27			HGNC	p.E10Q		SFR1		SNV							ENST00000336358	protein_coding							C		-/1438							YES	SFR1,missense_variant,p.Glu10Gln,ENST00000336358,;SFR1,intron_variant,,ENST00000369729,NM_145247.4;SFR1,intron_variant,,ENST00000369727,NM_001002759.1;SFR1,intron_variant,,ENST00000463224,;							MODIFIER	-/738		SFR1_HUMAN			Transcript			.	ENSP00000358742		CCDS31279.1			1	
CD4	0	LGGM	GRCh37	12	6926324	6926324	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	14	11	.	.	ENST00000011653.4:c.984T>C	p.Cys328=	p.C328=	ENST00000011653	NM_000616.4	328	tgT/tgC	0	1	1	UPI0000001294	0		ENST00000011653		ENSG00000010610	1678		25			HGNC	p.C328C		CD4		SNV			1				ENST00000011653	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF05790,hmmpanther:PTHR11422,hmmpanther:PTHR11422:SF0,Superfamily_domains:SSF48726		C		C		1242/3114				Q6LCP8_HUMAN,Q13969_HUMAN,F5GYA9_HUMAN,B4DT49_HUMAN			YES	CD4,synonymous_variant,p.=,ENST00000011653,NM_000616.4,NM_001195017.2,NM_001195016.2,NM_001195015.2;GPR162,upstream_gene_variant,,ENST00000311268,NM_019858.1;GPR162,upstream_gene_variant,,ENST00000428545,NM_014449.1;CD4,downstream_gene_variant,,ENST00000541982,;GPR162,upstream_gene_variant,,ENST00000382315,;CD4,downstream_gene_variant,,ENST00000538827,;GPR162,upstream_gene_variant,,ENST00000541431,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,downstream_gene_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;GPR162,upstream_gene_variant,,ENST00000535220,;CD4,downstream_gene_variant,,ENST00000544344,;CD4,downstream_gene_variant,,ENST00000543755,;							LOW	984/1377		CD4_HUMAN			Transcript			.	ENSP00000011653		CCDS8562.1			1	
SLC9A1	0	LGGM	GRCh37	1	27429760	27429760	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	11	11	.	.	ENST00000263980.3:c.1529A>C	p.Lys510Thr	p.K510T	ENST00000263980	NM_003047.4	510	aAa/aCa	0	1	1	UPI000012FD1B	0	getma.org/pdb.php?prot=SL9A1_HUMAN&from=506&to=705&var=K510T	ENST00000263980		ENSG00000090020	11071		22	2.195		HGNC	p.K171T		SLC9A1		SNV							ENST00000545949	protein_coding	getma.org/?cm=var&var=hg19,1,27429760,T,G&fts=all		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840,Prints_domain:PR01085		K/T		G	medium	2105/4516		getma.org/?cm=msa&ty=f&p=SL9A1_HUMAN&rb=506&re=705&var=K510T	deleterious(0.01)	B4DTZ6_HUMAN,B1ALD5_HUMAN			YES	SLC9A1,missense_variant,p.Lys510Thr,ENST00000263980,NM_003047.4;SLC9A1,missense_variant,p.Lys171Thr,ENST00000545949,;SLC9A1,downstream_gene_variant,,ENST00000374086,;SLC9A1,upstream_gene_variant,,ENST00000490329,;SLC9A1,non_coding_transcript_exon_variant,,ENST00000374089,;SLC9A1,upstream_gene_variant,,ENST00000447808,;							MODERATE	1529/2448	K510T	SL9A1_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000263980		CCDS295.1			1	
STRC	0	LGGM	GRCh37	15	43896270	43896270	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	12	.	.	ENST00000450892.2:c.4299T>C	p.Cys1433=	p.C1433=	ENST00000450892	NM_153700.2	1433	tgT/tgC	0	1	1	UPI000013E60F	0		ENST00000450892		ENSG00000242866	16035		18			HGNC	p.C1433C		STRC		SNV			1				ENST00000450892	protein_coding			hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		C		G		4377/5680				E7EPM8_HUMAN			YES	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000300283,NM_020990.3;CKMT1B,downstream_gene_variant,,ENST00000441322,;RNU6-554P,downstream_gene_variant,,ENST00000410466,;CKMT1B,intron_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,intron_variant,,ENST00000448437,;CKMT1B,downstream_gene_variant,,ENST00000437534,;STRC,downstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000460952,;STRC,upstream_gene_variant,,ENST00000493750,;							LOW	4299/5328		STRC_HUMAN			Transcript			.	ENSP00000401513		CCDS10098.1			1	
LHCGR	0	LGGM	GRCh37	2	48925841	48925841	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	12	.	.	ENST00000294954.7:c.779C>T	p.Pro260Leu	p.P260L	ENST00000294954	NM_000233.3	260	cCa/cTa	0	1	1	UPI000013E1E1	0	getma.org/pdb.php?prot=LSHR_HUMAN&from=142&to=268&var=P260L	ENST00000294954		ENSG00000138039	6585		41	3.6		HGNC	p.P260L		LHCGR		SNV			1				ENST00000403273	protein_coding	getma.org/?cm=var&var=hg19,2,48925841,G,A&fts=all		hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1		P/L		A	high	801/3044		getma.org/?cm=msa&ty=f&p=LSHR_HUMAN&rb=142&re=268&var=P260L	deleterious(0)	Q53S49_HUMAN,Q4ZFZ4_HUMAN			YES	LHCGR,missense_variant,p.Pro260Leu,ENST00000294954,NM_000233.3;LHCGR,missense_variant,p.Pro260Leu,ENST00000405626,;LHCGR,missense_variant,p.Pro260Leu,ENST00000403273,;LHCGR,missense_variant,p.Pro260Leu,ENST00000401907,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;LHCGR,intron_variant,,ENST00000344775,;GTF2A1L,intron_variant,,ENST00000508440,;LHCGR,3_prime_UTR_variant,,ENST00000602369,;							MODERATE	779/2100	P260L	LSHR_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000294954		CCDS1842.1			1	
MAT2A	0	LGGM	GRCh37	2	85769701	85769701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	10	13	.	.	ENST00000306434.3:c.782T>C	p.Leu261Ser	p.L261S	ENST00000306434	NM_005911.5	261	tTg/tCg	0	1	1	UPI0000000C32	0	getma.org/pdb.php?prot=METK2_HUMAN&from=252&to=389&var=L261S	ENST00000306434		ENSG00000168906	6904		23	4.475		HGNC	p.L261S		MAT2A		SNV							ENST00000306434	protein_coding	getma.org/?cm=var&var=hg19,2,85769701,T,C&fts=all		HAMAP:MF_00086,hmmpanther:PTHR11964,TIGRFAM_domain:TIGR01034,Pfam_domain:PF02773,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973		L/S		C	high	905/2819		getma.org/?cm=msa&ty=f&p=METK2_HUMAN&rb=252&re=389&var=L261S	deleterious(0)	B4DN45_HUMAN,B4DEX8_HUMAN			YES	MAT2A,missense_variant,p.Leu261Ser,ENST00000306434,NM_005911.5;MAT2A,missense_variant,p.Leu198Ser,ENST00000409017,;GGCX,downstream_gene_variant,,ENST00000233838,NM_000821.5;MAT2A,downstream_gene_variant,,ENST00000490878,;MAT2A,non_coding_transcript_exon_variant,,ENST00000481412,;MAT2A,downstream_gene_variant,,ENST00000469221,;MAT2A,downstream_gene_variant,,ENST00000465151,;							MODERATE	782/1188	L261S	METK2_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000303147		CCDS1977.1			1	
SLC18A1	0	LGGM	GRCh37	8	20005552	20005552	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	14	.	.	ENST00000440926.1:c.1176C>A	p.Leu392=	p.L392=	ENST00000440926	NM_001135691.2	392	ctC/ctA	0	1		UPI00001389CE	0		ENST00000276373		ENSG00000036565	10934		20			HGNC	p.L392L	COSM176563	SLC18A1		SNV						1	ENST00000276373	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF71,Superfamily_domains:SSF103473		L		T		1443/2753								SLC18A1,synonymous_variant,p.=,ENST00000440926,NM_001135691.2;SLC18A1,synonymous_variant,p.=,ENST00000437980,NM_001142325.1;SLC18A1,synonymous_variant,p.=,ENST00000265808,NM_001142324.1;SLC18A1,synonymous_variant,p.=,ENST00000276373,NM_003053.3;SLC18A1,synonymous_variant,p.=,ENST00000519026,;SLC18A1,synonymous_variant,p.=,ENST00000381608,;SLC18A1,3_prime_UTR_variant,,ENST00000517776,;SLC18A1,non_coding_transcript_exon_variant,,ENST00000519171,;					1		LOW	1176/1578		VMAT1_HUMAN			Transcript			.	ENSP00000276373		CCDS6013.1			1	
SLC45A1	0	LGGM	GRCh37	1	8384388	8384388	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	24	14	.	.	ENST00000471889.1:c.-2C>T		*1*	ENST00000471889				0	1		UPI000040EA42	0		ENST00000289877		ENSG00000162426	17939		38		2	HGNC	p.T34M	rs753784183	SLC45A1	6.74E-05	SNV							ENST00000377479	protein_coding							T		-/2401								SLC45A1,missense_variant,p.Thr34Met,ENST00000377479,;SLC45A1,5_prime_UTR_variant,,ENST00000471889,;SLC45A1,upstream_gene_variant,,ENST00000289877,NM_001080397.1;Y_RNA,upstream_gene_variant,,ENST00000516445,;							MODIFIER	-/2247		S45A1_HUMAN			Transcript			.	ENSP00000289877	8.25E-06	CCDS30577.1			1	
XRN2	0	LGGM	GRCh37	20	21307228	21307228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	17	14	.	.	ENST00000377191.3:c.304A>G	p.Ile102Val	p.I102V	ENST00000377191	NM_012255.3	102	Ata/Gta	0	1	1	UPI0000037D02	0	getma.org/pdb.php?prot=XRN2_HUMAN&from=1&to=255&var=I102V	ENST00000377191		ENSG00000088930	12836		31	0.84		HGNC	p.I48V	rs768422695	XRN2		SNV							ENST00000539513	protein_coding	getma.org/?cm=var&var=hg19,20,21307228,A,G&fts=all		hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF037239		I/V		G	low	399/3435		getma.org/?cm=msa&ty=f&p=XRN2_HUMAN&rb=1&re=255&var=I102V	tolerated(0.21)	B4DZC3_HUMAN			YES	XRN2,missense_variant,p.Ile102Val,ENST00000377191,NM_012255.3;XRN2,missense_variant,p.Ile48Val,ENST00000539513,;XRN2,missense_variant,p.Ile26Val,ENST00000430571,;	0.000234						MODERATE	304/2853	I102V	XRN2_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000366396	1.65E-05	CCDS13144.1			1	
COL14A1	0	LGGM	GRCh37	8	121328221	121328221	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	15	14	.	.	ENST00000297848.3:c.4644C>G	p.Gly1548=	p.G1548=	ENST00000297848	NM_021110.2	1548	ggC/ggG	0	1	1	UPI000046D377	0		ENST00000297848		ENSG00000187955	2191		29			HGNC	p.G1453G		COL14A1		SNV			1				ENST00000247781	protein_coding			hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Pfam_domain:PF01391		G		G		4914/6466							YES	COL14A1,synonymous_variant,p.=,ENST00000297848,NM_021110.2;COL14A1,synonymous_variant,p.=,ENST00000247781,;COL14A1,synonymous_variant,p.=,ENST00000309791,;							LOW	4644/5391		COEA1_HUMAN			Transcript			.	ENSP00000297848		CCDS34938.1			1	
HECTD1	0	LGGM	GRCh37	14	31641288	31641288	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	14	.	.	ENST00000399332.1:c.1197A>G	p.Leu399=	p.L399=	ENST00000399332	NM_015382.2	399	ctA/ctG	0	1	1	UPI0000E8AC98	0		ENST00000399332		ENSG00000092148	20157		51			HGNC	p.L399L		HECTD1		SNV							ENST00000399332	protein_coding			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		L		C		1686/9134				G3V4V5_HUMAN			YES	HECTD1,synonymous_variant,p.=,ENST00000399332,NM_015382.2;HECTD1,synonymous_variant,p.=,ENST00000553700,;HECTD1,synonymous_variant,p.=,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000553957,;HECTD1,downstream_gene_variant,,ENST00000554471,;							LOW	1197/7833		HECD1_HUMAN			Transcript			.	ENSP00000382269		CCDS41939.1			1	
MYO9B	0	LGGM	GRCh37	19	17212964	17212964	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	65	14	.	.	ENST00000595618.1:c.437C>T	p.Ala146Val	p.A146V	ENST00000595618	NM_001130065.1	146	gCg/gTg	0	1		UPI0002A47676	0	getma.org/pdb.php?prot=MYO9B_HUMAN&from=1&to=939&var=A146V	ENST00000594824		ENSG00000099331	7609		79	-0.975		HGNC	p.A146V	rs374387496	MYO9B		SNV	T:0		1	0.000103			ENST00000595618	protein_coding	getma.org/?cm=var&var=hg19,19,17212964,C,T&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF306,SMART_domains:SM00242,Superfamily_domains:SSF52540		A/V	T:0.0001	T	neutral	584/7595	3.01E-05	getma.org/?cm=msa&ty=f&p=MYO9B_HUMAN&rb=1&re=939&var=A146V	tolerated(0.17)	M0R0P8_HUMAN				MYO9B,missense_variant,p.Ala146Val,ENST00000595618,NM_001130065.1,NM_004145.3;MYO9B,missense_variant,p.Ala146Val,ENST00000594824,;MYO9B,missense_variant,p.Ala146Val,ENST00000397274,;MYO9B,missense_variant,p.Ala146Val,ENST00000595641,;CTD-2528A14.5,upstream_gene_variant,,ENST00000597045,;MYO9B,upstream_gene_variant,,ENST00000593411,;	0.000116						MODERATE	437/6474	A146V				Transcript		benign(0.091)	.	ENSP00000471367	3.31E-05				1	
SLC45A3	0	LGGM	GRCh37	1	205631976	205631976	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	15	.	.	ENST00000367145.3:c.943A>G	p.Arg315Gly	p.R315G	ENST00000367145	NM_033102.2	315	Aga/Gga	0	1	1	UPI0000039836	0	NA	ENST00000367145		ENSG00000158715	8642		31	1.5		HGNC	p.R315G		SLC45A3		SNV							ENST00000367145	protein_coding	getma.org/?cm=var&var=hg19,1,205631976,T,C&fts=all		hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		R/G		C	low	1239/3341		getma.org/?cm=msa&ty=f&p=S45A3_HUMAN&rb=309&re=508&var=R315G	tolerated(0.37)	Q658X7_HUMAN,A8K2U9_HUMAN			YES	SLC45A3,missense_variant,p.Arg315Gly,ENST00000367145,NM_033102.2;SLC45A3,upstream_gene_variant,,ENST00000460934,;							MODERATE	943/1662	R315G	S45A3_HUMAN			Transcript		benign(0.132)	.	ENSP00000356113		CCDS1458.1			1	
CMTM3	0	LGGM	GRCh37	16	66643797	66643797	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	15	.	.	ENST00000424011.2:c.411C>T	p.Phe137=	p.F137=	ENST00000424011		137	ttC/ttT	0	1		UPI000000DC37	0		ENST00000361909		ENSG00000140931	19174		44			HGNC	p.F137F		CMTM3		SNV							ENST00000424011	protein_coding			Pfam_domain:PF01284,PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF3,Transmembrane_helices:TMhelix		F		T		766/2159				H3BU39_HUMAN,H3BN06_HUMAN,B3KQJ8_HUMAN				CMTM3,synonymous_variant,p.=,ENST00000424011,;CMTM3,synonymous_variant,p.=,ENST00000361909,NM_144601.3;CMTM3,synonymous_variant,p.=,ENST00000567572,NM_181553.2;CMTM3,synonymous_variant,p.=,ENST00000460097,;CMTM3,synonymous_variant,p.=,ENST00000564060,;CMTM3,synonymous_variant,p.=,ENST00000562707,;CMTM3,synonymous_variant,p.=,ENST00000568477,;CMTM3,synonymous_variant,p.=,ENST00000565003,;CMTM3,synonymous_variant,p.=,ENST00000566121,;CMTM3,3_prime_UTR_variant,,ENST00000565666,;CMTM3,intron_variant,,ENST00000565922,;CMTM3,intron_variant,,ENST00000360086,;CMTM4,downstream_gene_variant,,ENST00000330687,NM_181521.2,NM_178818.2;CMTM3,downstream_gene_variant,,ENST00000562357,;CMTM3,downstream_gene_variant,,ENST00000563672,;CMTM3,3_prime_UTR_variant,,ENST00000566756,;CMTM3,non_coding_transcript_exon_variant,,ENST00000564247,;CMTM4,downstream_gene_variant,,ENST00000581487,;							LOW	411/549		CKLF3_HUMAN			Transcript			.	ENSP00000354579		CCDS10815.1			1	
ZNF536	0	LGGM	GRCh37	19	30934674	30934674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	12	15	.	.	ENST00000355537.3:c.205C>A	p.His69Asn	p.H69N	ENST00000355537	NM_014717.1	69	Cac/Aac	0	1	1	UPI000006ED3E	0	NA	ENST00000355537		ENSG00000198597	29025		27	0.975		HGNC	p.H69N		ZNF536		SNV							ENST00000585628	protein_coding	getma.org/?cm=var&var=hg19,19,30934674,C,A&fts=all				H/N		A	low	352/4945		getma.org/?cm=msa&ty=f&p=ZN536_HUMAN&rb=1&re=94&var=H69N	deleterious_low_confidence(0.02)	K7EKT4_HUMAN,K7EJP8_HUMAN			YES	ZNF536,missense_variant,p.His69Asn,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.His69Asn,ENST00000585628,;ZNF536,missense_variant,p.His69Asn,ENST00000591488,;							MODERATE	205/3903	H69N	ZN536_HUMAN			Transcript		benign(0.446)	.	ENSP00000347730		CCDS32984.1			1	
VPS13A	0	LGGM	GRCh37	9	79930326	79930346	+	inframe_deletion	In_Frame_Del	DEL	GCCTACACCACAGGCACTGCT	GCCTACACCACAGGCACTGCT	-	novel	by Submitter	H080411	H080411N.bam	GCCTACACCACAGGCACTGCT	GCCTACACCACAGGCACTGCT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	16	.	.	ENST00000360280.3:c.4571_4591del	p.Ala1524_Ala1530del	p.A1524_A1530del	ENST00000360280	NM_033305.2	1524	GCCTACACCACAGGCACTGCT/-	0	1	1	UPI0000210B7A	0		ENST00000360280		ENSG00000197969	1908		22			HGNC	p.1524_1530del		VPS13A		deletion			1				ENST00000360280	protein_coding			hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22		AYTTGTA/-		-		4830-4850/15320							YES	VPS13A,inframe_deletion,p.Ala1524_Ala1530del,ENST00000360280,NM_033305.2;VPS13A,inframe_deletion,p.Ala1485_Ala1491del,ENST00000376636,NM_001018037.1;VPS13A,inframe_deletion,p.Ala1524_Ala1530del,ENST00000376634,NM_001018038.2;VPS13A,inframe_deletion,p.Ala1524_Ala1530del,ENST00000357409,NM_015186.3;VPS13A,upstream_gene_variant,,ENST00000419472,;VPS13A,non_coding_transcript_exon_variant,,ENST00000423463,;VPS13A,3_prime_UTR_variant,,ENST00000493341,;							MODERATE	4570-4590/9525		VP13A_HUMAN			Transcript	1		.	ENSP00000353422		CCDS6655.1			1	
CHRM2	0	LGGM	GRCh37	7	136700383	136700383	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	16	16	.	.	ENST00000445907.2:c.771C>A	p.His257Gln	p.H257Q	ENST00000445907	NM_001006627.1	257	caC/caA	0	1		UPI0000050410	0	getma.org/pdb.php?prot=ACM2_HUMAN&from=40&to=440&var=H257Q	ENST00000320658		ENSG00000181072	1951		32	-0.755		HGNC	p.H257Q		CHRM2		SNV			1				ENST00000320658	protein_coding	getma.org/?cm=var&var=hg19,7,136700383,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001		H/Q		A	neutral	1064/1694		getma.org/?cm=msa&ty=f&p=ACM2_HUMAN&rb=40&re=440&var=H257Q	tolerated(0.69)	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN				CHRM2,missense_variant,p.His257Gln,ENST00000445907,NM_001006627.1,NM_001006629.1;CHRM2,missense_variant,p.His257Gln,ENST00000401861,NM_001006626.1;CHRM2,missense_variant,p.His257Gln,ENST00000397608,NM_000739.2,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.His257Gln,ENST00000402486,NM_001006631.1,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.His257Gln,ENST00000453373,;CHRM2,missense_variant,p.His257Gln,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,;							MODERATE	771/1401	H257Q	ACM2_HUMAN			Transcript		benign(0.016)	.	ENSP00000319984		CCDS5843.1			1	
CSMD1	0	LGGM	GRCh37	8	3266955	3266955	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	17	.	.	ENST00000537824.1:c.1734C>G	p.Pro578=	p.P578=	ENST00000537824	NM_033225.5	578	ccC/ccG	0	1	1	UPI0001B723C6	0		ENST00000537824		ENSG00000183117	14026		38			HGNC	p.P579P		CSMD1		SNV							ENST00000400186	protein_coding			PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		P		C		1734/10695				F5GZ18_HUMAN			YES	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,;							LOW	1734/10695					Transcript			.	ENSP00000441462		CCDS55189.1			1	
MDH1B	0	LGGM	GRCh37	2	207615680	207615680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	57	17	.	.	ENST00000374412.3:c.1030G>T	p.Val344Phe	p.V344F	ENST00000374412	NM_001039845.1	344	Gtt/Ttt	0	1	1	UPI00001D7E19	0	getma.org/pdb.php?prot=MDH1B_HUMAN&from=288&to=458&var=V344F	ENST00000374412		ENSG00000138400	17836		74	2.57		HGNC	p.V246F		MDH1B		SNV							ENST00000449792	protein_coding	getma.org/?cm=var&var=hg19,2,207615680,C,A&fts=all		hmmpanther:PTHR23382:SF1,hmmpanther:PTHR23382,Gene3D:3.90.110.10,Pfam_domain:PF02866,Superfamily_domains:SSF56327		V/F		A	medium	1306/2553		getma.org/?cm=msa&ty=f&p=MDH1B_HUMAN&rb=288&re=458&var=V344F	deleterious(0)	C9JER5_HUMAN,B4DY40_HUMAN			YES	MDH1B,missense_variant,p.Val344Phe,ENST00000374412,NM_001039845.1;MDH1B,missense_variant,p.Val344Phe,ENST00000454776,NM_001282940.1;MDH1B,missense_variant,p.Val246Phe,ENST00000449792,;MDH1B,intron_variant,,ENST00000392214,;MDH1B,intron_variant,,ENST00000432911,;MDH1B,intron_variant,,ENST00000436472,;							MODERATE	1030/1557	V344F	MDH1B_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000363533		CCDS33365.1			1	
TMEM181	0	LGGM	GRCh37	6	159006366	159006366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	20	18	.	.	ENST00000367090.3:c.701C>T	p.Thr234Ile	p.T234I	ENST00000367090	NM_020823.1	234	aCt/aTt	0	1	1	UPI00001C1E40	0	NA	ENST00000367090		ENSG00000146433	20958		38	1.79		HGNC	p.T234I		TMEM181		SNV							ENST00000367090	protein_coding	getma.org/?cm=var&var=hg19,6,159006366,C,T&fts=all		hmmpanther:PTHR31918,hmmpanther:PTHR31918:SF1		T/I		T	low	712/5390		getma.org/?cm=msa&ty=f&p=TM181_HUMAN&rb=201&re=263&var=T234I	deleterious(0.03)				YES	TMEM181,missense_variant,p.Thr234Ile,ENST00000367090,NM_020823.1;							MODERATE	701/1839	T234I	TM181_HUMAN			Transcript		benign(0.015)	.	ENSP00000356057		CCDS43520.1			1	
LDLR	0	LGGM	GRCh37	19	11217298	11217298	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	18	.	.	ENST00000558518.1:c.752G>C	p.Gly251Ala	p.G251A	ENST00000558518	NM_001195798.1	251	gGc/gCc	0	1	1	UPI00000015DF	0	getma.org/pdb.php?prot=LDLR_HUMAN&from=234&to=270&var=G251A	ENST00000558518		ENSG00000130164	6547		57	0.475		HGNC	p.G251A		LDLR		SNV			1				ENST00000557933	protein_coding	getma.org/?cm=var&var=hg19,19,11217298,G,C&fts=all		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261		G/A		C	neutral	939/3617		getma.org/?cm=msa&ty=f&p=LDLR_HUMAN&rb=234&re=270&var=G251A	tolerated(0.13)	Q6LCH2_HUMAN,E1B4S5_HUMAN			YES	LDLR,missense_variant,p.Gly336Ala,ENST00000252444,;LDLR,missense_variant,p.Gly251Ala,ENST00000558518,NM_001195798.1,NM_000527.4;LDLR,missense_variant,p.Gly251Ala,ENST00000558013,;LDLR,missense_variant,p.Gly251Ala,ENST00000557933,;LDLR,missense_variant,p.Gly210Ala,ENST00000535915,NM_001195799.1;LDLR,missense_variant,p.Gly124Ala,ENST00000545707,NM_001195803.1;LDLR,missense_variant,p.Gly118Ala,ENST00000560467,;LDLR,intron_variant,,ENST00000455727,NM_001195800.1;LDLR,non_coding_transcript_exon_variant,,ENST00000558528,;LDLR,downstream_gene_variant,,ENST00000557958,;LDLR,upstream_gene_variant,,ENST00000560173,;							MODERATE	752/2583	G251A	LDLR_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000454071		CCDS12254.1			1	
NHSL1	0	LGGM	GRCh37	6	138750917	138750917	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	22	18	.	.	ENST00000427025.2:c.4028A>G	p.Asp1343Gly	p.D1343G	ENST00000427025	NM_020464.1	1343	gAc/gGc	0	1	1	UPI0001750345	0	NA	ENST00000427025		ENSG00000135540	21021		40	0.28		HGNC	p.D1343G		NHSL1		SNV							ENST00000427025	protein_coding	getma.org/?cm=var&var=hg19,6,138750917,T,C&fts=all		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3		D/G		C	neutral	4657/7500		getma.org/?cm=msa&ty=f&p=NHSL1_HUMAN&rb=1331&re=1609&var=D1343G	tolerated(0.05)	B4DS58_HUMAN			YES	NHSL1,missense_variant,p.Asp1343Gly,ENST00000427025,NM_020464.1;NHSL1,missense_variant,p.Asp1339Gly,ENST00000343505,NM_001144060.1;NHSL1,downstream_gene_variant,,ENST00000342260,;							MODERATE	4028/4833	D1343G	NHSL1_HUMAN			Transcript		benign(0.036)	.	ENSP00000394546		CCDS55063.1			1	
CLSTN3	0	LGGM	GRCh37	12	7303273	7303273	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	24	18	.	.	ENST00000266546.6:c.2379A>T	p.Glu793Asp	p.E793D	ENST00000266546	NM_014718.3	793	gaA/gaT	0	1	1	UPI0000049E7C	0	NA	ENST00000266546		ENSG00000139182	18371		42	1.92		HGNC	p.E793D		CLSTN3		SNV							ENST00000266546	protein_coding	getma.org/?cm=var&var=hg19,12,7303273,A,T&fts=all		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5		E/D		T	medium	2829/4185		getma.org/?cm=msa&ty=f&p=CSTN3_HUMAN&rb=743&re=942&var=E793D	tolerated(0.05)	F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN			YES	CLSTN3,missense_variant,p.Glu805Asp,ENST00000537408,;CLSTN3,missense_variant,p.Glu793Asp,ENST00000266546,NM_014718.3;CLSTN3,non_coding_transcript_exon_variant,,ENST00000542663,;CLSTN3,downstream_gene_variant,,ENST00000541770,;							MODERATE	2379/2871	E793D	CSTN3_HUMAN			Transcript		benign(0.26)	.	ENSP00000266546		CCDS8575.1			1	
TG	0	LGGM	GRCh37	8	134125736	134125736	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	69	18	.	.	ENST00000220616.4:c.7643G>C	p.Gly2548Ala	p.G2548A	ENST00000220616	NM_003235.4	2548	gGt/gCt	0	1	1	UPI000013C79F	0	getma.org/pdb.php?prot=THYG_HUMAN&from=2186&to=2718&var=G2548A	ENST00000220616		ENSG00000042832	11764		87	1.965		HGNC	p.G918A		TG		SNV			1				ENST00000542445	protein_coding	getma.org/?cm=var&var=hg19,8,134125736,G,C&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142,Superfamily_domains:SSF53474		G/A		C	medium	7683/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=2186&re=2718&var=G2548A	deleterious(0)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Gly2548Ala,ENST00000220616,NM_003235.4;TG,missense_variant,p.Gly2491Ala,ENST00000377869,;TG,missense_variant,p.Gly1004Ala,ENST00000519178,;TG,missense_variant,p.Gly918Ala,ENST00000542445,;TG,missense_variant,p.Gly681Ala,ENST00000519543,;TG,upstream_gene_variant,,ENST00000521107,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522996,;TG,non_coding_transcript_exon_variant,,ENST00000522809,;							MODERATE	7643/8307	G2548A	THYG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000220616		CCDS34944.1			1	
KMT2C	0	LGGM	GRCh37	7	151945121	151945121	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	392	19	.	.	ENST00000262189.6:c.2398T>C	p.Tyr800His	p.Y800H	ENST00000262189	NM_170606.2	800	Tac/Cac	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		411	0.895		HGNC	p.Y800H		KMT2C		SNV							ENST00000355193	protein_coding	getma.org/?cm=var&var=hg19,7,151945121,A,G&fts=all				Y/H		G	low	2617/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=639&re=838&var=Y800H		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Tyr800His,ENST00000355193,;KMT2C,missense_variant,p.Tyr800His,ENST00000262189,NM_170606.2;KMT2C,upstream_gene_variant,,ENST00000418673,;KMT2C,missense_variant,p.Tyr800His,ENST00000558084,;							MODERATE	2398/14736	Y800H	KMT2C_HUMAN			Transcript		possibly_damaging(0.635)	.	ENSP00000262189		CCDS5931.1			1	
PKN2	0	LGGM	GRCh37	1	89237519	89237519	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	19	.	.	ENST00000370521.3:c.942G>A	p.Thr314=	p.T314=	ENST00000370521	NM_006256.2	314	acG/acA	0	1	1	UPI000004D291	0		ENST00000370521		ENSG00000065243	9406		58			HGNC	p.T314T	rs374860858	PKN2	6.07E-05	SNV	T:0.0003			0.000103			ENST00000316005	protein_coding			hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF76		T	T:0	A		1301/6121	9.03E-05			Q6P5W9_HUMAN			YES	PKN2,synonymous_variant,p.=,ENST00000370521,NM_006256.2;PKN2,synonymous_variant,p.=,ENST00000370505,;PKN2,synonymous_variant,p.=,ENST00000370513,;PKN2,synonymous_variant,p.=,ENST00000316005,;PKN2,synonymous_variant,p.=,ENST00000436111,;	0.000116						LOW	942/2955		PKN2_HUMAN			Transcript			.	ENSP00000359552	7.45E-05	CCDS714.1			1	
IGLV1-36	0	LGGM	GRCh37	22	22786788	22786788	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	19	.	.	ENST00000390301.2:c.338del	p.Asp113AlafsTer3	p.D113Afs*3	ENST00000390301		113	gAc/gc	0	1	1	UPI000011717F	0		ENST00000390301		ENSG00000211655	5876		49			HGNC	p.D113fs		IGLV1-36		deletion							ENST00000390301	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF116,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		D/X		-		378/392				Q5NV70_HUMAN			YES	IGLV1-36,frameshift_variant,p.Asp113AlafsTer3,ENST00000390301,;IGLV5-37,downstream_gene_variant,,ENST00000390300,;							HIGH	338/352					Transcript			.	ENSP00000374836					1	
SCP2	0	LGGM	GRCh37	1	53453734	53453734	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	23	19	.	.	ENST00000371514.3:c.1007A>G	p.Asn336Ser	p.N336S	ENST00000371514	NM_002979.4	336	aAt/aGt	0	1	1	UPI0000130258	0	getma.org/pdb.php?prot=NLTP_HUMAN&from=277&to=401&var=N336S	ENST00000371514		ENSG00000116171	10606		42	2.095		HGNC	p.N312S		SCP2		SNV			1				ENST00000407246	protein_coding	getma.org/?cm=var&var=hg19,1,53453734,A,G&fts=all		hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Gene3D:3.40.47.10,Pfam_domain:PF02803,Superfamily_domains:SSF53901		N/S		G	medium	1175/2811		getma.org/?cm=msa&ty=f&p=NLTP_HUMAN&rb=277&re=401&var=N336S	deleterious(0.04)				YES	SCP2,missense_variant,p.Asn336Ser,ENST00000371514,NM_002979.4;SCP2,missense_variant,p.Asn312Ser,ENST00000407246,NM_001193599.1;SCP2,missense_variant,p.Asn292Ser,ENST00000371513,NM_001007098.2;SCP2,missense_variant,p.Asn255Ser,ENST00000528311,NM_001193617.1;SCP2,missense_variant,p.Asn292Ser,ENST00000371509,NM_001193600.1;SCP2,non_coding_transcript_exon_variant,,ENST00000473584,;SCP2,missense_variant,p.Asn336Ser,ENST00000478631,;							MODERATE	1007/1644	N336S	NLTP_HUMAN			Transcript		possibly_damaging(0.458)	.	ENSP00000360569		CCDS572.1			1	
OTUD7B	0	LGGM	GRCh37	1	149931679	149931679	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	20	.	.	ENST00000369135.4:c.769G>A	p.Glu257Lys	p.E257K	ENST00000369135	NM_020205.3	257	Gag/Aag	0	1	1	UPI000020415D	0	getma.org/pdb.php?prot=OTU7B_HUMAN&from=189&to=359&var=E257K	ENST00000369135		ENSG00000163113	16683		50	1.855		HGNC	p.E257K		OTUD7B		SNV							ENST00000417191	protein_coding	getma.org/?cm=var&var=hg19,1,149931679,C,T&fts=all		PROSITE_profiles:PS50802,hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF11,Pfam_domain:PF02338		E/K		T	low	1064/8878		getma.org/?cm=msa&ty=f&p=OTU7B_HUMAN&rb=189&re=359&var=E257K	deleterious(0.01)	Q5SZ59_HUMAN			YES	OTUD7B,missense_variant,p.Glu257Lys,ENST00000369135,NM_020205.3;OTUD7B,missense_variant,p.Glu257Lys,ENST00000417191,;OTUD7B,downstream_gene_variant,,ENST00000479905,;							MODERATE	769/2532	E257K	OTU7B_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000358131		CCDS41389.1			1	
DMTF1	0	LGGM	GRCh37	7	86794342	86794342	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	19	20	.	.	ENST00000394703.5:c.85C>G	p.Leu29Val	p.L29V	ENST00000394703	NM_021145.3	29	Ctc/Gtc	0	1		UPI000006FB78	0	NA	ENST00000331242		ENSG00000135164	14603		39	0.895		HGNC	p.L29V	rs768895889	DMTF1		SNV							ENST00000394702	protein_coding	getma.org/?cm=var&var=hg19,7,86794342,C,G&fts=all		hmmpanther:PTHR10641:SF463,hmmpanther:PTHR10641		L/V		G	low	411/3801	1.62E-05	getma.org/?cm=msa&ty=f&p=DMTF1_HUMAN&rb=1&re=200&var=L29V	deleterious_low_confidence(0.01)	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				DMTF1,missense_variant,p.Leu29Val,ENST00000394703,NM_021145.3;DMTF1,missense_variant,p.Leu29Val,ENST00000331242,NM_001142326.1,NM_001142327.1;DMTF1,missense_variant,p.Leu29Val,ENST00000413276,;DMTF1,missense_variant,p.Leu29Val,ENST00000411766,;DMTF1,missense_variant,p.Leu29Val,ENST00000394702,;DMTF1,missense_variant,p.Leu29Val,ENST00000425705,;DMTF1,missense_variant,p.Leu29Val,ENST00000449088,;DMTF1,missense_variant,p.Leu29Val,ENST00000582925,;DMTF1,missense_variant,p.Leu29Val,ENST00000430405,;DMTF1,missense_variant,p.Leu29Val,ENST00000414630,;DMTF1,missense_variant,p.Leu29Val,ENST00000446796,;DMTF1,missense_variant,p.Leu29Val,ENST00000453049,;DMTF1,missense_variant,p.Leu29Val,ENST00000434534,;DMTF1,missense_variant,p.Leu29Val,ENST00000448598,;DMTF1,missense_variant,p.Leu29Val,ENST00000432366,;DMTF1,missense_variant,p.Leu29Val,ENST00000423590,;DMTF1,5_prime_UTR_variant,,ENST00000414194,;DMTF1,intron_variant,,ENST00000432937,;DMTF1,intron_variant,,ENST00000420131,;DMTF1,downstream_gene_variant,,ENST00000579592,;DMTF1,downstream_gene_variant,,ENST00000428819,;DMTF1,downstream_gene_variant,,ENST00000580710,;DMTF1,downstream_gene_variant,,ENST00000584457,;DMTF1,downstream_gene_variant,,ENST00000583833,;DMTF1,missense_variant,p.Leu29Val,ENST00000412139,;DMTF1,missense_variant,p.Leu29Val,ENST00000447863,;DMTF1,missense_variant,p.Leu29Val,ENST00000579677,;DMTF1,missense_variant,p.Leu29Val,ENST00000425406,;DMTF1,missense_variant,p.Leu29Val,ENST00000547146,;DMTF1,missense_variant,p.Leu29Val,ENST00000579850,;DMTF1,missense_variant,p.Leu29Val,ENST00000584619,;	0.000117						MODERATE	85/2283	L29V	DMTF1_HUMAN			Transcript		benign(0.327)	.	ENSP00000332171	1.65E-05	CCDS5601.1			1	
SORL1	0	LGGM	GRCh37	11	121492903	121492903	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	34	20	.	.	ENST00000260197.7:c.6097A>G	p.Ile2033Val	p.I2033V	ENST00000260197	NM_003105.5	2033	Ata/Gta	0	1	1	UPI000013D0B1	0	NA	ENST00000260197		ENSG00000137642	11185		54	0.695		HGNC	p.I879V		SORL1		SNV			1				ENST00000532694	protein_coding	getma.org/?cm=var&var=hg19,11,121492903,A,G&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/V		G	neutral	6226/10904		getma.org/?cm=msa&ty=f&p=SORL_HUMAN&rb=2024&re=2118&var=I2033V	tolerated(0.06)	E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,missense_variant,p.Ile2033Val,ENST00000260197,NM_003105.5;SORL1,missense_variant,p.Ile977Val,ENST00000525532,;SORL1,missense_variant,p.Ile879Val,ENST00000532694,;SORL1,missense_variant,p.Ile943Val,ENST00000534286,;SORL1,missense_variant,p.Ile648Val,ENST00000527934,;SORL1,non_coding_transcript_exon_variant,,ENST00000524633,;SORL1,downstream_gene_variant,,ENST00000528339,;SORL1,downstream_gene_variant,,ENST00000534754,;SORL1,upstream_gene_variant,,ENST00000527649,;							MODERATE	6097/6645	I2033V	SORL_HUMAN			Transcript		benign(0.097)	.	ENSP00000260197		CCDS8436.1			1	
FOXD4	0	LGGM	GRCh37	9	117564	117564	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	59	22	.	.	ENST00000382500.2:c.556G>T	p.Asp186Tyr	p.D186Y	ENST00000382500	NM_207305.4	186	Gac/Tac	0	1	1	UPI00001AFF18	0	getma.org/pdb.php?prot=FOXD4_HUMAN&from=104&to=199&var=D186Y	ENST00000382500		ENSG00000170122	3805		81	2.125		HGNC	p.D186Y		FOXD4		SNV							ENST00000382500	protein_coding	getma.org/?cm=var&var=hg19,9,117564,C,A&fts=all		PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785		D/Y		A	medium	854/2181		getma.org/?cm=msa&ty=f&p=FOXD4_HUMAN&rb=104&re=199&var=D186Y	deleterious(0)				YES	FOXD4,missense_variant,p.Asp186Tyr,ENST00000382500,NM_207305.4;CBWD1,downstream_gene_variant,,ENST00000356521,NM_018491.3;CBWD1,downstream_gene_variant,,ENST00000377400,;CBWD1,downstream_gene_variant,,ENST00000314367,NM_001145355.1;CBWD1,downstream_gene_variant,,ENST00000382447,NM_001145356.1;RP11-143M1.4,upstream_gene_variant,,ENST00000416242,;CBWD1,downstream_gene_variant,,ENST00000475411,;CBWD1,downstream_gene_variant,,ENST00000495302,;CBWD1,downstream_gene_variant,,ENST00000475990,;CBWD1,downstream_gene_variant,,ENST00000465014,;CBWD1,downstream_gene_variant,,ENST00000487575,;CBWD1,downstream_gene_variant,,ENST00000464198,;CBWD1,downstream_gene_variant,,ENST00000462513,;							MODERATE	556/1320	D186Y	FOXD4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000371940		CCDS34975.1			1	
XIRP2	0	LGGM	GRCh37	2	168096364	168096364	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	51	23	.	.	ENST00000409195.1:c.859-1G>T		p.X287_splice	ENST00000409195	NM_152381.5			0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		74			HGNC	-	COSM4086458,COSM4086459	XIRP2		SNV						1,1	ENST00000409195	protein_coding							T		-/12675				J3KNB1_HUMAN			YES	XIRP2,splice_acceptor_variant,,ENST00000409195,NM_152381.5;XIRP2,splice_acceptor_variant,,ENST00000295237,;XIRP2,splice_acceptor_variant,,ENST00000409273,NM_001199144.1;XIRP2,splice_acceptor_variant,,ENST00000409728,NM_001199143.1;XIRP2,splice_acceptor_variant,,ENST00000409043,NM_001079810.3;XIRP2,splice_acceptor_variant,,ENST00000409756,;XIRP2,splice_acceptor_variant,,ENST00000420519,;XIRP2,splice_acceptor_variant,,ENST00000409605,NM_001199145.1;					1,1		HIGH	859/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
BCMO1	0	LGGM	GRCh37	16	81295860	81295860	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	44	23	.	.	ENST00000258168.2:c.443A>G	p.Asn148Ser	p.N148S	ENST00000258168	NM_017429.2	148	aAc/aGc	0	1	1	UPI0000049CF7	0	getma.org/pdb.php?prot=BCDO1_HUMAN&from=2&to=520&var=N148S	ENST00000258168		ENSG00000135697	13815		67	2.63		HGNC	p.N79S		BCMO1		SNV			1				ENST00000425577	protein_coding	getma.org/?cm=var&var=hg19,16,81295860,A,G&fts=all		Pfam_domain:PF03055,hmmpanther:PTHR10543,hmmpanther:PTHR10543:SF22		N/S		G	medium	904/2670		getma.org/?cm=msa&ty=f&p=BCDO1_HUMAN&rb=2&re=520&var=N148S	deleterious(0.02)				YES	BCMO1,missense_variant,p.Asn148Ser,ENST00000258168,NM_017429.2;BCMO1,missense_variant,p.Asn79Ser,ENST00000425577,;BCMO1,missense_variant,p.Asn148Ser,ENST00000564552,;BCMO1,3_prime_UTR_variant,,ENST00000563804,;							MODERATE	443/1644	N148S	BCDO1_HUMAN			Transcript		benign(0.102)	.	ENSP00000258168		CCDS10934.1			1	
SEL1L	0	LGGM	GRCh37	14	81964783	81964783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	13	23	.	.	ENST00000336735.4:c.947C>T	p.Thr316Ile	p.T316I	ENST00000336735	NM_005065.5	316	aCt/aTt	0	1	1	UPI0000135746	0	NA	ENST00000336735		ENSG00000071537	10717		36	0.535		HGNC	p.T316I		SEL1L		SNV							ENST00000336735	protein_coding	getma.org/?cm=var&var=hg19,14,81964783,G,A&fts=all		hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,Gene3D:1.25.40.10,Pfam_domain:PF08238,SMART_domains:SM00671,Superfamily_domains:SSF81901		T/I		A	neutral	1064/7925		getma.org/?cm=msa&ty=f&p=SE1L1_HUMAN&rb=292&re=324&var=T316I	tolerated(0.13)				YES	SEL1L,missense_variant,p.Thr316Ile,ENST00000336735,NM_005065.5;SEL1L,downstream_gene_variant,,ENST00000555824,NM_001244984.1;SEL1L,non_coding_transcript_exon_variant,,ENST00000554744,;							MODERATE	947/2385	T316I	SE1L1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000337053		CCDS9876.1			1	
HNRNPD	0	LGGM	GRCh37	4	83278471	83278471	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	3	23	.	.	ENST00000313899.7:c.748A>G	p.Ser250Gly	p.S250G	ENST00000313899	NM_031370.2	250	Agt/Ggt	0	1	1	UPI0000000C3F	0	getma.org/pdb.php?prot=HNRPD_HUMAN&from=184&to=254&var=S250G	ENST00000313899		ENSG00000138668	5036		26	1.07		HGNC	p.S198G		HNRNPD		SNV							ENST00000543098	protein_coding	getma.org/?cm=var&var=hg19,4,83278471,T,C&fts=all		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF263,SMART_domains:SM00360,Superfamily_domains:SSF54928		S/G		C	low	1026/3033		getma.org/?cm=msa&ty=f&p=HNRPD_HUMAN&rb=184&re=254&var=S250G	tolerated(0.56)	F5H6R6_HUMAN,D6RF44_HUMAN,D6RAF8_HUMAN			YES	HNRNPD,missense_variant,p.Ser250Gly,ENST00000313899,NM_031370.2;HNRNPD,missense_variant,p.Ser231Gly,ENST00000352301,NM_031369.2;HNRNPD,missense_variant,p.Ser250Gly,ENST00000353341,NM_002138.3;HNRNPD,missense_variant,p.Ser96Gly,ENST00000541060,;HNRNPD,missense_variant,p.Ser198Gly,ENST00000543098,;HNRNPD,missense_variant,p.Ser154Gly,ENST00000514671,;HNRNPD,missense_variant,p.Ser183Gly,ENST00000509263,;HNRNPD,downstream_gene_variant,,ENST00000507010,;HNRNPD,downstream_gene_variant,,ENST00000503822,;HNRNPD,downstream_gene_variant,,ENST00000509107,;HNRNPD,downstream_gene_variant,,ENST00000515432,;HNRNPD,non_coding_transcript_exon_variant,,ENST00000508119,;HNRNPD,3_prime_UTR_variant,,ENST00000513584,;HNRNPD,non_coding_transcript_exon_variant,,ENST00000514325,;							MODERATE	748/1068	S250G	HNRPD_HUMAN			Transcript		benign(0.147)	.	ENSP00000313199		CCDS3592.1			1	
SCN1A	0	LGGM	GRCh37	2	166868720	166868720	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	45	23	.	.	ENST00000303395.4:c.3778A>T	p.Thr1260Ser	p.T1260S	ENST00000303395		1260	Act/Tct	0	1	1	UPI000003C71D	0	getma.org/pdb.php?prot=SCN1A_HUMAN&from=1254&to=1482&var=T1260S	ENST00000303395		ENSG00000144285	10585		68	2.645		HGNC	p.T1232S		SCN1A		SNV			1				ENST00000409050	protein_coding	getma.org/?cm=var&var=hg19,2,166868720,T,A&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		T/S		A	medium	3778/8112		getma.org/?cm=msa&ty=f&p=SCN1A_HUMAN&rb=1254&re=1482&var=T1260S	tolerated(0.1)	F8T7W7_HUMAN			YES	SCN1A,missense_variant,p.Thr1260Ser,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Thr1260Ser,ENST00000303395,;SCN1A,missense_variant,p.Thr1249Ser,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,missense_variant,p.Thr1232Ser,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;AC010127.3,upstream_gene_variant,,ENST00000595268,;							MODERATE	3778/6030	T1260S	SCN1A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000303540		CCDS54413.1			1	
CCDC59	0	LGGM	GRCh37	12	82750784	82750784	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	48	23	.	.	ENST00000256151.7:c.419G>A	p.Ser140Asn	p.S140N	ENST00000256151	NM_014167.4	140	aGc/aAc	0	1	1	UPI0000034DFE	0	NA	ENST00000256151		ENSG00000133773	25005		71	1.95		HGNC	p.S140N		CCDC59		SNV							ENST00000256151	protein_coding	getma.org/?cm=var&var=hg19,12,82750784,C,T&fts=all		hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657		S/N		T	medium	831/1983		getma.org/?cm=msa&ty=f&p=TAP26_HUMAN&rb=136&re=240&var=S140N	tolerated(0.11)				YES	CCDC59,missense_variant,p.Ser140Asn,ENST00000256151,NM_014167.4;CCDC59,missense_variant,p.Ser140Asn,ENST00000552377,;METTL25,upstream_gene_variant,,ENST00000248306,NM_032230.2;METTL25,upstream_gene_variant,,ENST00000548200,;METTL25,upstream_gene_variant,,ENST00000550058,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;METTL25,upstream_gene_variant,,ENST00000547985,;CCDC59,downstream_gene_variant,,ENST00000552412,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,non_coding_transcript_exon_variant,,ENST00000547758,;CCDC59,upstream_gene_variant,,ENST00000550589,;							MODERATE	419/726	S140N	TAP26_HUMAN			Transcript		benign(0.055)	.	ENSP00000256151		CCDS9023.1			1	
GPR111	0	LGGM	GRCh37	6	47649982	47649982	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	21	24	.	.	ENST00000296862.1:c.1687C>G	p.Leu563Val	p.L563V	ENST00000296862		563	Ctg/Gtg	0	1	1	UPI000007411C	0	NA	ENST00000296862		ENSG00000164393	18991		45	0.835		HGNC	p.L495V		GPR111		SNV							ENST00000507065	protein_coding	getma.org/?cm=var&var=hg19,6,47649982,C,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF54,Pfam_domain:PF00002		L/V		G	low	1687/2127		getma.org/?cm=msa&ty=f&p=GP111_HUMAN&rb=443&re=690&var=L563V	tolerated(0.08)				YES	GPR111,missense_variant,p.Leu495Val,ENST00000398742,;GPR111,missense_variant,p.Leu495Val,ENST00000507065,;GPR111,missense_variant,p.Leu563Val,ENST00000296862,;GPR115,upstream_gene_variant,,ENST00000371220,;GPR111,missense_variant,p.Leu495Val,ENST00000467205,NM_153839.6;							MODERATE	1687/2127	L563V	GP111_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000296862					1	
STK38L	0	LGGM	GRCh37	12	27467520	27467520	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	25	.	.	ENST00000389032.3:c.601A>G	p.Ile201Val	p.I201V	ENST00000389032	NM_015000.3	201	Ata/Gta	0	1	1	UPI0000035B4A	0	getma.org/pdb.php?prot=ST38L_HUMAN&from=90&to=383&var=I201V	ENST00000389032		ENSG00000211455	17848		58	0.21		HGNC	p.I108V		STK38L		SNV							ENST00000539577	protein_coding	getma.org/?cm=var&var=hg19,12,27467520,A,G&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24358,hmmpanther:PTHR24358:SF6,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V		G	neutral	770/5068		getma.org/?cm=msa&ty=f&p=ST38L_HUMAN&rb=90&re=383&var=I201V	deleterious(0.02)	F5H7Z3_HUMAN,F5GY51_HUMAN			YES	STK38L,missense_variant,p.Ile201Val,ENST00000389032,NM_015000.3;STK38L,missense_variant,p.Ile108Val,ENST00000539577,;STK38L,missense_variant,p.Ile160Val,ENST00000545470,;STK38L,missense_variant,p.Ile9Val,ENST00000536093,;STK38L,3_prime_UTR_variant,,ENST00000407753,;STK38L,upstream_gene_variant,,ENST00000543992,;STK38L,downstream_gene_variant,,ENST00000544367,;							MODERATE	601/1395	I201V	ST38L_HUMAN			Transcript		benign(0.172)	.	ENSP00000373684		CCDS31761.1			1	
PAPD7	0	LGGM	GRCh37	5	6746434	6746434	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	92	25	.	.	ENST00000230859.6:c.603T>A	p.Ile201=	p.I201=	ENST00000230859	NM_001171805.1	201	atT/atA	0	1	1	UPI0000071E30	0		ENST00000230859		ENSG00000112941	16705		117			HGNC	p.I201I		PAPD7		SNV							ENST00000230859	protein_coding			Pfam_domain:PF03828,hmmpanther:PTHR23092,hmmpanther:PTHR23092:SF24,Superfamily_domains:SSF81631		I		A		732/3861				M1JCE6_HUMAN,D6RJD0_HUMAN,B7ZLL4_HUMAN,B4E0T3_HUMAN			YES	PAPD7,synonymous_variant,p.=,ENST00000230859,NM_001171805.1,NM_006999.4,NM_001171806.1;PAPD7,non_coding_transcript_exon_variant,,ENST00000514697,;PAPD7,non_coding_transcript_exon_variant,,ENST00000511764,;PAPD7,upstream_gene_variant,,ENST00000505457,;PAPD7,upstream_gene_variant,,ENST00000514410,;							LOW	603/1629		PAPD7_HUMAN			Transcript			.	ENSP00000230859		CCDS3871.1			1	
SESN3	0	LGGM	GRCh37	11	94917697	94917697	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	35	26	.	.	ENST00000536441.1:c.824A>C	p.Glu275Ala	p.E275A	ENST00000536441	NM_144665.3	275	gAa/gCa	0	1	1	UPI0000135891	0	NA	ENST00000536441		ENSG00000149212	23060		61	1.095		HGNC	p.E275A		SESN3		SNV							ENST00000393234	protein_coding	getma.org/?cm=var&var=hg19,11,94917697,T,G&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474,Pfam_domain:PF04636		E/A		G	low	1161/9531		getma.org/?cm=msa&ty=f&p=SESN3_HUMAN&rb=37&re=492&var=E275A	tolerated(0.55)				YES	SESN3,missense_variant,p.Glu275Ala,ENST00000536441,NM_144665.3;SESN3,missense_variant,p.Glu136Ala,ENST00000278499,NM_001271594.1;SESN3,missense_variant,p.Glu275Ala,ENST00000416495,;SESN3,missense_variant,p.Glu275Ala,ENST00000393234,;RP11-712B9.2,intron_variant,,ENST00000534891,;RP11-712B9.2,intron_variant,,ENST00000534864,;							MODERATE	824/1479	E275A	SESN3_HUMAN			Transcript		benign(0.287)	.	ENSP00000441927		CCDS8303.1			1	
PRSS16	0	LGGM	GRCh37	6	27217005	27217005	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	26	.	.	ENST00000230582.3:c.464T>A	p.Leu155His	p.L155H	ENST00000230582	NM_005865.3	155	cTt/cAt	0	1	1	UPI0000137773	0	getma.org/pdb.php?prot=TSSP_HUMAN&from=64&to=494&var=L155H	ENST00000230582		ENSG00000112812	9480		44	-1.115		HGNC	p.L155H		PRSS16		SNV							ENST00000470870	protein_coding	getma.org/?cm=var&var=hg19,6,27217005,T,A&fts=all		hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474		L/H		A	neutral	479/2716		getma.org/?cm=msa&ty=f&p=TSSP_HUMAN&rb=64&re=494&var=L155H	tolerated(1)	Q7Z5N5_HUMAN			YES	PRSS16,missense_variant,p.Leu155His,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.Leu47His,ENST00000475106,;PRSS16,missense_variant,p.Leu47His,ENST00000485993,;PRSS16,intron_variant,,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,missense_variant,p.Leu155His,ENST00000470870,;PRSS16,3_prime_UTR_variant,,ENST00000468930,;PRSS16,intron_variant,,ENST00000454665,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000462664,;							MODERATE	464/1545	L155H	TSSP_HUMAN			Transcript		benign(0.001)	.	ENSP00000230582		CCDS4623.1			1	
HSPA5	0	LGGM	GRCh37	9	128003123	128003123	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	3	26	.	.	ENST00000324460.6:c.186G>T	p.Thr62=	p.T62=	ENST00000324460	NM_005347.4	62	acG/acT	0	1	1	UPI0000001061	0		ENST00000324460		ENSG00000044574	5238		29			HGNC	p.T62T		HSPA5		SNV							ENST00000324460	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF00012,Prints_domain:PR00301,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF157,Superfamily_domains:SSF53067		T		A		390/3908							YES	HSPA5,synonymous_variant,p.=,ENST00000324460,NM_005347.4;RP11-65N13.8,upstream_gene_variant,,ENST00000468244,;							LOW	186/1965		GRP78_HUMAN			Transcript			.	ENSP00000324173		CCDS6863.1			1	
SLC4A4	0	LGGM	GRCh37	4	72363345	72363345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	6	27	.	.	ENST00000425175.1:c.2102T>C	p.Leu701Ser	p.L701S	ENST00000425175	NM_001134742.1	701	tTg/tCg	0	1		UPI000006DF04	0	NA	ENST00000264485		ENSG00000080493	11030		33	1.955		HGNC	p.L701S		SLC4A4		SNV			1				ENST00000264485	protein_coding	getma.org/?cm=var&var=hg19,4,72363345,T,C&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955		L/S		C	medium	2219/5323		getma.org/?cm=msa&ty=f&p=S4A4_HUMAN&rb=435&re=956&var=L701S	deleterious(0)					SLC4A4,missense_variant,p.Leu657Ser,ENST00000340595,NM_003759.3;SLC4A4,missense_variant,p.Leu701Ser,ENST00000425175,NM_001134742.1;SLC4A4,missense_variant,p.Leu701Ser,ENST00000264485,NM_001098484.2;SLC4A4,missense_variant,p.Leu701Ser,ENST00000351898,;							MODERATE	2102/3240	L701S	S4A4_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000264485		CCDS43236.1			1	
ABCB7	0	LGGM	GRCh37	X	74295357	74295357	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	3	27	.	.	ENST00000253577.3:c.698A>G	p.His233Arg	p.H233R	ENST00000253577	NM_001271696.1	233	cAt/cGt	0	1		UPI0000125116	0	NA	ENST00000373394		ENSG00000131269	48		30	3.09		HGNC	p.H206R		ABCB7		SNV			1				ENST00000529949	protein_coding	getma.org/?cm=var&var=hg19,X,74295357,T,C&fts=all		Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF18,PROSITE_profiles:PS50929		H/R		C	medium	703/2353		getma.org/?cm=msa&ty=f&p=ABCB7_HUMAN&rb=140&re=424&var=H232R	deleterious(0.03)					ABCB7,missense_variant,p.His233Arg,ENST00000253577,NM_001271696.1,NM_004299.4;ABCB7,missense_variant,p.His232Arg,ENST00000373394,;ABCB7,missense_variant,p.His192Arg,ENST00000339447,NM_001271699.1,NM_001271697.1;ABCB7,missense_variant,p.His206Arg,ENST00000529949,NM_001271698.1;ABCB7,missense_variant,p.His177Arg,ENST00000534524,;ABCB7,downstream_gene_variant,,ENST00000526404,;ABCB7,upstream_gene_variant,,ENST00000534570,;ABCB7,upstream_gene_variant,,ENST00000469368,;							MODERATE	695/2259	H232R	ABCB7_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000362492		CCDS65291.1			1	
SRSF7	0	LGGM	GRCh37	2	38977264	38977264	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	54	27	.	.	ENST00000313117.6:c.101A>G	p.Tyr34Cys	p.Y34C	ENST00000313117	NM_001195446.1	34	tAt/tGt	0	1	1	UPI000000D853	0	getma.org/pdb.php?prot=SRSF7_HUMAN&from=13&to=78&var=Y34C	ENST00000313117		ENSG00000115875	10789		81	1.765		HGNC	p.Y34C	COSM4094162	SRSF7		SNV						1	ENST00000409276	protein_coding	getma.org/?cm=var&var=hg19,2,38977264,T,C&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR10548,SMART_domains:SM00360,Superfamily_domains:SSF54928		Y/C		C	low	339/2489		getma.org/?cm=msa&ty=f&p=SRSF7_HUMAN&rb=13&re=78&var=Y34C	deleterious(0.01)				YES	SRSF7,missense_variant,p.Tyr34Cys,ENST00000313117,NM_001195446.1,NM_001031684.2;SRSF7,missense_variant,p.Tyr34Cys,ENST00000446327,;SRSF7,missense_variant,p.Tyr34Cys,ENST00000409276,;GEMIN6,upstream_gene_variant,,ENST00000409011,;SRSF7,upstream_gene_variant,,ENST00000452806,;SRSF7,missense_variant,p.Tyr34Cys,ENST00000425778,;SRSF7,missense_variant,p.Tyr34Cys,ENST00000425941,;SRSF7,missense_variant,p.Tyr34Cys,ENST00000443213,;SRSF7,missense_variant,p.Tyr34Cys,ENST00000431066,;SRSF7,5_prime_UTR_variant,,ENST00000415527,;SRSF7,upstream_gene_variant,,ENST00000477635,;SRSF7,upstream_gene_variant,,ENST00000487773,;SRSF7,upstream_gene_variant,,ENST00000432873,;					1		MODERATE	101/717	Y34C	SRSF7_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000325905		CCDS33183.1			1	
CDH18	0	LGGM	GRCh37	5	19473397	19473397	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	42	30	.	.	ENST00000507958.1:c.2311G>T	p.Gly771Ter	p.G771*	ENST00000507958		771	Gga/Tga	0	1		UPI0000126DBD	0	NA	ENST00000274170		ENSG00000145526	1757		72	0		HGNC	p.G771X		CDH18		SNV							ENST00000382275	protein_coding	getma.org/?cm=var&var=hg19,5,19473397,C,A&fts=all		hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049,Gene3D:4.10.900.10		G/*		A	NA	2823/2885		NA						CDH18,stop_gained,p.Gly771Ter,ENST00000507958,;CDH18,stop_gained,p.Gly771Ter,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,stop_gained,p.Gly771Ter,ENST00000274170,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;							HIGH	2311/2373	G771*	CAD18_HUMAN			Transcript			.	ENSP00000274170		CCDS3889.1			1	
CRISP2	0	LGGM	GRCh37	6	49668426	49668426	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	38	30	.	.	ENST00000339139.4:c.138A>C	p.Glu46Asp	p.E46D	ENST00000339139	NM_001261822.1	46	gaA/gaC	0	1	1	UPI000013728C	0	getma.org/pdb.php?prot=CRIS2_HUMAN&from=41&to=169&var=E46D	ENST00000339139		ENSG00000124490	12024		68	0.21		HGNC	p.E46D		CRISP2		SNV							ENST00000339139	protein_coding	getma.org/?cm=var&var=hg19,6,49668426,T,G&fts=all		Superfamily_domains:SSF55797,SMART_domains:SM00198,Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF154		E/D		G	neutral	375/1382		getma.org/?cm=msa&ty=f&p=CRIS2_HUMAN&rb=41&re=169&var=E46D	tolerated(0.37)	Q5U8Z9_HUMAN			YES	CRISP2,missense_variant,p.Glu46Asp,ENST00000339139,NM_001261822.1,NM_001142435.2,NM_001142417.2,NM_003296.3,NM_001142407.2,NM_001142408.2;							MODERATE	138/732	E46D	CRIS2_HUMAN			Transcript		benign(0.107)	.	ENSP00000339155		CCDS4928.1			1	
KRT6C	0	LGGM	GRCh37	12	52863503	52863503	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	46	30	.	.	ENST00000252250.6:c.1375G>A	p.Asp459Asn	p.D459N	ENST00000252250	NM_173086.4	459	Gat/Aat	0	1	1	UPI00001AE73F	0	getma.org/pdb.php?prot=K2C6C_HUMAN&from=162&to=475&var=D459N	ENST00000252250		ENSG00000170465	20406		76	4.21		HGNC	p.D459N		KRT6C		SNV			1				ENST00000252250	protein_coding	getma.org/?cm=var&var=hg19,12,52863503,C,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF141,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593		D/N		T	high	1423/2289		getma.org/?cm=msa&ty=f&p=K2C6C_HUMAN&rb=162&re=475&var=D459N	deleterious(0)				YES	KRT6C,missense_variant,p.Asp459Asn,ENST00000252250,NM_173086.4;KRT6C,downstream_gene_variant,,ENST00000553087,;							MODERATE	1375/1695	D459N	K2C6C_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000252250		CCDS8829.1			1	
MAP1A	0	LGGM	GRCh37	15	43804397	43804397	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	78	31	.	.	ENST00000382031.1:c.248C>A	p.Ser83Tyr	p.S83Y	ENST00000382031		83	tCc/tAc	0	1	1	UPI000066D92C	0		ENST00000382031		ENSG00000166963	6835		109			HGNC	p.S83Y		MAP1A		SNV							ENST00000382031	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF6		S/Y		A		279/10553				E9PGC8_HUMAN				MAP1A,missense_variant,p.Ser83Tyr,ENST00000382031,;TP53BP1,upstream_gene_variant,,ENST00000263801,NM_005657.2;TP53BP1,upstream_gene_variant,,ENST00000477089,;							MODERATE	248/9126					Transcript		probably_damaging(0.998)	.	ENSP00000371462					1	
ZFPM2	0	LGGM	GRCh37	8	106814692	106814692	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	51	31	.	.	ENST00000407775.2:c.2382T>C	p.Ile794=	p.I794=	ENST00000407775	NM_012082.3	794	atT/atC	0	1	1	UPI000057A0B4	0		ENST00000407775		ENSG00000169946	16700		82			HGNC	p.I662I		ZFPM2		SNV			1				ENST00000520492	protein_coding			hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5		I		C		2632/4700				Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,synonymous_variant,p.=,ENST00000407775,NM_012082.3;ZFPM2,synonymous_variant,p.=,ENST00000520492,;ZFPM2,synonymous_variant,p.=,ENST00000517361,;ZFPM2,synonymous_variant,p.=,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							LOW	2382/3456		FOG2_HUMAN			Transcript			.	ENSP00000384179		CCDS47908.1			1	
EIF3J	0	LGGM	GRCh37	15	44849702	44849702	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	27	31	.	.	ENST00000261868.5:c.425T>G	p.Val142Gly	p.V142G	ENST00000261868	NM_003758.2	142	gTt/gGt	0	1	1	UPI000012D2F9	0	getma.org/pdb.php?prot=EIF3J_HUMAN&from=11&to=258&var=V142G	ENST00000261868		ENSG00000104131	3270		58	0.465		HGNC	p.V142G		EIF3J		SNV							ENST00000261868	protein_coding	getma.org/?cm=var&var=hg19,15,44849702,T,G&fts=all		HAMAP:MF_03009,hmmpanther:PTHR21681,Pfam_domain:PF08597		V/G		G	neutral	563/2569		getma.org/?cm=msa&ty=f&p=EIF3J_HUMAN&rb=11&re=258&var=V142G	tolerated(0.47)				YES	EIF3J,missense_variant,p.Val142Gly,ENST00000261868,NM_003758.2;EIF3J,missense_variant,p.Val93Gly,ENST00000424492,NM_001284336.1;EIF3J,missense_variant,p.Val21Gly,ENST00000536248,;EIF3J,intron_variant,,ENST00000535391,NM_001284335.1;RP11-151N17.1,upstream_gene_variant,,ENST00000558006,;EIF3J,non_coding_transcript_exon_variant,,ENST00000558053,;EIF3J,upstream_gene_variant,,ENST00000558353,;EIF3J,downstream_gene_variant,,ENST00000558227,;							MODERATE	425/777	V142G	EIF3J_HUMAN			Transcript		benign(0.137)	.	ENSP00000261868		CCDS10111.1			1	
SLC9C1	0	LGGM	GRCh37	3	111981812	111981812	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	32	.	.	ENST00000305815.5:c.1156T>A	p.Tyr386Asn	p.Y386N	ENST00000305815	NM_183061.1	386	Tac/Aac	0	1	1	UPI00002372C5	0	NA	ENST00000305815		ENSG00000172139	31401		71	1.67		HGNC	p.Y386N		SLC9C1		SNV							ENST00000305815	protein_coding	getma.org/?cm=var&var=hg19,3,111981812,A,T&fts=all		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87		Y/N		T	low	1409/4172		getma.org/?cm=msa&ty=f&p=S9A10_HUMAN&rb=18&re=424&var=Y386N	deleterious(0.02)	C9J3M6_HUMAN			YES	SLC9C1,missense_variant,p.Tyr386Asn,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Tyr338Asn,ENST00000487372,;SLC9C1,intron_variant,,ENST00000471295,;							MODERATE	1156/3534	Y386N	SL9C1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000306627		CCDS33817.1			1	
DYRK1A	0	LGGM	GRCh37	21	38862542	38862542	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	18	34	.	.	ENST00000398960.2:c.730A>T	p.Asn244Tyr	p.N244Y	ENST00000398960	NM_001396.3	244	Aac/Tac	0	1	1	UPI0000129A31	0	getma.org/pdb.php?prot=DYR1A_HUMAN&from=159&to=479&var=N244Y	ENST00000398960		ENSG00000157540	3091		52	3.71		HGNC	p.N244Y		DYRK1A		SNV			1				ENST00000338785	protein_coding	getma.org/?cm=var&var=hg19,21,38862542,A,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28,SMART_domains:SM00220,Superfamily_domains:SSF56112		N/Y		T	high	805/2422		getma.org/?cm=msa&ty=f&p=DYR1A_HUMAN&rb=159&re=479&var=N244Y	deleterious(0)	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN			YES	DYRK1A,missense_variant,p.Asn235Tyr,ENST00000339659,NM_130436.2;DYRK1A,missense_variant,p.Asn244Tyr,ENST00000338785,NM_101395.2;DYRK1A,missense_variant,p.Asn244Tyr,ENST00000451934,;DYRK1A,missense_variant,p.Asn244Tyr,ENST00000321219,;DYRK1A,missense_variant,p.Asn244Tyr,ENST00000398960,NM_001396.3,NM_130438.2;DYRK1A,missense_variant,p.Asn16Tyr,ENST00000455387,;DYRK1A,missense_variant,p.Asn244Tyr,ENST00000398956,;DYRK1A,downstream_gene_variant,,ENST00000462274,;							MODERATE	730/2292	N244Y	DYR1A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381932		CCDS42925.1			1	
LIFR	0	LGGM	GRCh37	5	38502742	38502742	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	37	35	.	.	ENST00000263409.4:c.1597G>T	p.Ala533Ser	p.A533S	ENST00000263409	NM_002310.5	533	Gcc/Tcc	0	1	1	UPI000004CAC2	0	getma.org/pdb.php?prot=LIFR_HUMAN&from=524&to=723&var=A533S	ENST00000263409		ENSG00000113594	6597		72	1.905		HGNC	p.A533S		LIFR		SNV			1				ENST00000263409	protein_coding	getma.org/?cm=var&var=hg19,5,38502742,C,A&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91,PROSITE_profiles:PS50853		A/S		A	medium	1760/10089		getma.org/?cm=msa&ty=f&p=LIFR_HUMAN&rb=524&re=723&var=A533S	deleterious(0.01)	D6RJ94_HUMAN,D6RF33_HUMAN			YES	LIFR,missense_variant,p.Ala533Ser,ENST00000263409,NM_002310.5;LIFR,missense_variant,p.Ala533Ser,ENST00000453190,NM_001127671.1;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;LIFR,missense_variant,p.Ala13Ser,ENST00000506003,;							MODERATE	1597/3294	A533S	LIFR_HUMAN			Transcript		possibly_damaging(0.561)	.	ENSP00000263409		CCDS3927.1			1	
DCAF8L1	0	LGGM	GRCh37	X	27998340	27998340	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	2	37	.	.	ENST00000441525.1:c.1112A>C	p.Glu371Ala	p.E371A	ENST00000441525	NM_001017930.1	371	gAa/gCa	0	1	1	UPI000022DD1B	0	getma.org/pdb.php?prot=DC8L1_HUMAN&from=225&to=424&var=E371A	ENST00000441525		ENSG00000226372	31810		39	1.525		HGNC	p.E371A		DCAF8L1		SNV							ENST00000441525	protein_coding	getma.org/?cm=var&var=hg19,X,27998340,T,G&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR15574:SF29,hmmpanther:PTHR15574,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		E/A		G	low	1227/3457		getma.org/?cm=msa&ty=f&p=DC8L1_HUMAN&rb=225&re=424&var=E371A	tolerated(0.06)				YES	DCAF8L1,missense_variant,p.Glu371Ala,ENST00000441525,NM_001017930.1;							MODERATE	1112/1803	E371A	DC8L1_HUMAN			Transcript		benign(0.131)	.	ENSP00000405222		CCDS35222.1			1	
ZMYND8	0	LGGM	GRCh37	20	45905497	45905497	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	54	37	.	.	ENST00000461685.1:c.1041A>G	p.Glu347=	p.E347=	ENST00000461685		347	gaA/gaG	0	1		UPI0000131B67	0		ENST00000311275		ENSG00000101040	9397		91			HGNC	p.E327E		ZMYND8		SNV							ENST00000262975	protein_coding			PROSITE_profiles:PS50812,hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF13,Pfam_domain:PF00855,Gene3D:2.30.30.160,Superfamily_domains:SSF63748		E		C		1235/5362				Q5TH08_HUMAN,Q5TH07_HUMAN				ZMYND8,synonymous_variant,p.=,ENST00000311275,NM_001281783.1,NM_001281778.1,NM_001281772.1;ZMYND8,synonymous_variant,p.=,ENST00000360911,NM_183048.1,NM_012408.3;ZMYND8,synonymous_variant,p.=,ENST00000262975,NM_001281774.1;ZMYND8,synonymous_variant,p.=,ENST00000396281,;ZMYND8,synonymous_variant,p.=,ENST00000471951,NM_183047.1,NM_001281775.1;ZMYND8,synonymous_variant,p.=,ENST00000536340,;ZMYND8,synonymous_variant,p.=,ENST00000355972,NM_001281773.1;ZMYND8,synonymous_variant,p.=,ENST00000352431,;ZMYND8,synonymous_variant,p.=,ENST00000458360,NM_001281771.1;ZMYND8,synonymous_variant,p.=,ENST00000467200,NM_001281777.1;ZMYND8,synonymous_variant,p.=,ENST00000461685,;ZMYND8,synonymous_variant,p.=,ENST00000446994,;ZMYND8,synonymous_variant,p.=,ENST00000372023,NM_001281782.1;ZMYND8,synonymous_variant,p.=,ENST00000540497,NM_001281784.1;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;							LOW	981/3561		PKCB1_HUMAN			Transcript			.	ENSP00000312237					1	
DNAJC22	0	LGGM	GRCh37	12	49743118	49743118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	30	38	.	.	ENST00000549441.2:c.463A>G	p.Ile155Val	p.I155V	ENST00000549441		155	Att/Gtt	0	1		UPI000006D2CC	0	NA	ENST00000395069		ENSG00000178401	25802		68	1.995		HGNC	p.I155V		DNAJC22		SNV							ENST00000549441	protein_coding	getma.org/?cm=var&var=hg19,12,49743118,A,G&fts=all		Transmembrane_helices:TMhelix		I/V		G	medium	1084/2059		getma.org/?cm=msa&ty=f&p=DJC22_HUMAN&rb=51&re=250&var=I155V	tolerated(0.09)					DNAJC22,missense_variant,p.Ile155Val,ENST00000549441,;DNAJC22,missense_variant,p.Ile155Val,ENST00000395069,NM_024902.2;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,upstream_gene_variant,,ENST00000551153,;							MODERATE	463/1026	I155V	DJC22_HUMAN			Transcript		benign(0.029)	.	ENSP00000378508		CCDS8785.1			1	
LRP1B	0	LGGM	GRCh37	2	141816538	141816538	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	26	38	.	.	ENST00000389484.3:c.1322G>T	p.Arg441Leu	p.R441L	ENST00000389484	NM_018557.2	441	cGa/cTa	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=424&to=567&var=R441L	ENST00000389484		ENSG00000168702	6693		64	2.66		HGNC	p.R441L		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141816538,C,A&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		R/L		A	medium	2294/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=424&re=567&var=R441L		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			YES	LRP1B,missense_variant,p.Arg441Leu,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;							MODERATE	1322/13800	R441L	LRP1B_HUMAN			Transcript		benign(0.25)	.	ENSP00000374135		CCDS2182.1			1	
RP11-385D13.1	0	LGGM	GRCh37	17	15501936	15501936	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	4	39	.	.	ENST00000395906.3:c.1465C>T	p.Arg489Ter	p.R489*	ENST00000395906	NM_006382.3	489	Cga/Tga	0	1		UPI000268AF94	0	NA	ENST00000455584		ENSG00000251537			43	0		Clone_based_vega_gene	p.R799X	rs369249221	RP11-385D13.1		SNV	A:0			0.000105			ENST00000455584	protein_coding	getma.org/?cm=var&var=hg19,17,15501936,G,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/*	A:0.0002	A	NA	2439/5514	0.000182	NA		H0Y626_HUMAN,J3QKY5_HUMAN			YES	RP11-385D13.1,stop_gained,p.Arg799Ter,ENST00000455584,;CDRT1,stop_gained,p.Arg489Ter,ENST00000395906,NM_006382.3;CDRT1,5_prime_UTR_variant,,ENST00000354433,;CDRT1,upstream_gene_variant,,ENST00000583965,;CDRT1,upstream_gene_variant,,ENST00000571263,;CDRT1,upstream_gene_variant,,ENST00000475944,;							HIGH	2395/2862	R489*				Transcript			.	ENSP00000402644	0.000107				1	
GRM1	0	LGGM	GRCh37	6	146720008	146720008	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	46	39	.	.	ENST00000361719.2:c.1833C>A	p.Thr611=	p.T611=	ENST00000361719		611	acC/acA	0	1		UPI000013DCFD	0		ENST00000282753		ENSG00000152822	4593		85			HGNC	p.T611T		GRM1		SNV			1				ENST00000392299	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF00003		T		A		2068/6622								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,;							LOW	1833/3585		GRM1_HUMAN			Transcript			.	ENSP00000282753		CCDS5209.1			1	
MMS22L	0	LGGM	GRCh37	6	97729176	97729176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	29	40	.	.	ENST00000275053.4:c.227G>T	p.Gly76Val	p.G76V	ENST00000275053	NM_198468.2	76	gGc/gTc	0	1	1	UPI00003673C9	0	NA	ENST00000275053		ENSG00000146263	21475		69	1.355		HGNC	p.G76V		MMS22L		SNV							ENST00000509383	protein_coding	getma.org/?cm=var&var=hg19,6,97729176,C,A&fts=all		Pfam_domain:PF14910		G/V		A	low	493/8643		getma.org/?cm=msa&ty=f&p=MMS22_HUMAN&rb=11&re=76&var=G76V	deleterious(0)	H9KVD8_HUMAN			YES	MMS22L,missense_variant,p.Gly76Val,ENST00000275053,NM_198468.2;MMS22L,missense_variant,p.Gly76Val,ENST00000369251,;MMS22L,missense_variant,p.Gly2Val,ENST00000510018,;RP3-418C23.2,upstream_gene_variant,,ENST00000457513,;MMS22L,missense_variant,p.Gly76Val,ENST00000509383,;MMS22L,missense_variant,p.Gly76Val,ENST00000496119,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508820,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508976,;							MODERATE	227/3732	G76V	MMS22_HUMAN			Transcript		possibly_damaging(0.634)	.	ENSP00000275053		CCDS5039.1			1	
OR8K1	0	LGGM	GRCh37	11	56113793	56113793	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	75	40	.	.	ENST00000279783.2:c.279G>C	p.Val93=	p.V93=	ENST00000279783	NM_001002907.1	93	gtG/gtC	0	1	1	UPI0000041BC6	0		ENST00000279783		ENSG00000150261	14831		115			HGNC	p.V93V	rs372174600	OR8K1		SNV	C:0.0002						ENST00000279783	protein_coding			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V	C:0	C		373/1087							YES	OR8K1,synonymous_variant,p.=,ENST00000279783,NM_001002907.1;							LOW	279/960		OR8K1_HUMAN			Transcript			.	ENSP00000279783		CCDS31528.1			1	
VCP	0	LGGM	GRCh37	9	35061674	35061674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	4	41	.	.	ENST00000358901.6:c.1094G>A	p.Arg365Lys	p.R365K	ENST00000358901	NM_007126.3	365	aGg/aAg	0	1	1	UPI000005FB2E	0	getma.org/pdb.php?prot=TERA_HUMAN&from=241&to=371&var=R365K	ENST00000358901		ENSG00000165280	12666		45	1.13		HGNC	p.R365K		VCP		SNV			1				ENST00000358901	protein_coding	getma.org/?cm=var&var=hg19,9,35061674,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF69,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01243		R/K		T	low	1990/4370		getma.org/?cm=msa&ty=f&p=TERA_HUMAN&rb=241&re=371&var=R365K	deleterious(0.04)	Q9NTC4_HUMAN,Q96IF9_HUMAN,Q0IIN5_HUMAN,C9JUP7_HUMAN,C9IZA5_HUMAN			YES	VCP,missense_variant,p.Arg365Lys,ENST00000358901,NM_007126.3;VCP,downstream_gene_variant,,ENST00000448530,;VCP,downstream_gene_variant,,ENST00000417448,;VCP,non_coding_transcript_exon_variant,,ENST00000493886,;VCP,upstream_gene_variant,,ENST00000480327,;VCP,upstream_gene_variant,,ENST00000479300,;VCP,upstream_gene_variant,,ENST00000466100,;							MODERATE	1094/2421	R365K	TERA_HUMAN			Transcript		benign(0.137)	.	ENSP00000351777		CCDS6573.1			1	
USP48	0	LGGM	GRCh37	1	22016594	22016594	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	34	43	.	.	ENST00000308271.9:c.2884-2A>G		p.X962_splice	ENST00000308271	NM_032236.5			0	1	1	UPI0000192195	0		ENST00000308271		ENSG00000090686	18533		77			HGNC	-		USP48		SNV							ENST00000400301	protein_coding							C		-/4595				E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN			YES	USP48,splice_acceptor_variant,,ENST00000308271,NM_032236.5;USP48,splice_acceptor_variant,,ENST00000400301,;USP48,splice_acceptor_variant,,ENST00000529637,;USP48,splice_acceptor_variant,,ENST00000374732,;USP48,splice_acceptor_variant,,ENST00000464577,;							HIGH	2884/3108		UBP48_HUMAN			Transcript			.	ENSP00000309262		CCDS30623.1			1	
COL12A1	0	LGGM	GRCh37	6	75852996	75852996	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	47	45	.	.	ENST00000322507.8:c.4799A>G	p.Tyr1600Cys	p.Y1600C	ENST00000322507	NM_004370.5	1600	tAc/tGc	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=1567&to=1646&var=Y1600C	ENST00000322507		ENSG00000111799	2188		92	3.52		HGNC	p.Y436C		COL12A1		SNV			1				ENST00000345356	protein_coding	getma.org/?cm=var&var=hg19,6,75852996,T,C&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		Y/C		C	high	5109/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=1567&re=1646&var=Y1600C					YES	COL12A1,missense_variant,p.Tyr1600Cys,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Tyr1600Cys,ENST00000483888,;COL12A1,missense_variant,p.Tyr1600Cys,ENST00000416123,;COL12A1,missense_variant,p.Tyr436Cys,ENST00000345356,NM_080645.2;COL12A1,missense_variant,p.Tyr342Cys,ENST00000419671,;COL12A1,non_coding_transcript_exon_variant,,ENST00000474564,;							MODERATE	4799/9192	Y1600C	COCA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325146		CCDS43482.1			1	
ASAP1	0	LGGM	GRCh37	8	131129129	131129129	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	74	45	.	.	ENST00000357668.1:c.1993A>G	p.Ile665Val	p.I665V	ENST00000357668		665	Ata/Gta	0	1		UPI0000351D6E	0	getma.org/pdb.php?prot=ASAP1_HUMAN&from=578&to=667&var=I665V	ENST00000518721		ENSG00000153317	2720		119	0.575		HGNC	p.I665V		ASAP1		SNV							ENST00000357668	protein_coding	getma.org/?cm=var&var=hg19,8,131129129,T,C&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192,SMART_domains:SM00248,Superfamily_domains:SSF48403		I/V		C	neutral	2221/5507		getma.org/?cm=msa&ty=f&p=ASAP1_HUMAN&rb=578&re=667&var=I665V	tolerated(0.1)	E5RFD9_HUMAN				ASAP1,missense_variant,p.Ile665Val,ENST00000357668,;ASAP1,missense_variant,p.Ile665Val,ENST00000518721,NM_001247996.1,NM_018482.3;ASAP1,missense_variant,p.Ile486Val,ENST00000524124,;ASAP1,missense_variant,p.Ile79Val,ENST00000519483,;ASAP1,3_prime_UTR_variant,,ENST00000521075,;ASAP1,non_coding_transcript_exon_variant,,ENST00000521057,;ASAP1,upstream_gene_variant,,ENST00000520189,;							MODERATE	1993/3390	I665V	ASAP1_HUMAN			Transcript		benign(0)	.	ENSP00000429900		CCDS6362.1			1	
ZNF782	0	LGGM	GRCh37	9	99581449	99581449	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	2	46	.	.	ENST00000481138.1:c.856A>T	p.Lys286Ter	p.K286*	ENST00000481138	NM_001001662.1	286	Aaa/Taa	0	1	1	UPI00001D76E3	0	NA	ENST00000481138		ENSG00000196597	33110		48	0		HGNC	p.K154X		ZNF782		SNV							ENST00000535338	protein_coding	getma.org/?cm=var&var=hg19,9,99581449,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF111		K/*		A	NA	1518/4213		NA		G3V1K9_HUMAN,C9J9Y8_HUMAN			YES	ZNF782,stop_gained,p.Lys286Ter,ENST00000481138,NM_001001662.1;ZNF782,stop_gained,p.Lys275Ter,ENST00000289032,;ZNF782,stop_gained,p.Lys154Ter,ENST00000535338,;ZNF782,downstream_gene_variant,,ENST00000478850,;ZNF782,downstream_gene_variant,,ENST00000466833,;							HIGH	856/2100	K286*	ZN782_HUMAN			Transcript			.	ENSP00000419397		CCDS35075.1			1	
TXNDC2	0	LGGM	GRCh37	18	9886734	9886734	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	49	46	.	.	ENST00000306084.6:c.258C>A	p.Gly86=	p.G86=	ENST00000306084	NM_001098529.1	86	ggC/ggA	0	1	1	UPI000013EAE7	0		ENST00000306084		ENSG00000168454	16470		95			HGNC	p.G19G	rs144698163	TXNDC2		SNV	T:0.0002						ENST00000536353	protein_coding		T:0			G	T:0	A		457/1873	1.50E-05			F5H6S7_HUMAN	T:0	T:0	YES	TXNDC2,synonymous_variant,p.=,ENST00000357775,NM_032243.5;TXNDC2,synonymous_variant,p.=,ENST00000306084,NM_001098529.1;TXNDC2,synonymous_variant,p.=,ENST00000536353,;TXNDC2,synonymous_variant,p.=,ENST00000584255,;TXNDC2,non_coding_transcript_exon_variant,,ENST00000426718,;		T:0.0002					LOW	258/1662		TXND2_HUMAN		T:0.001	Transcript			.	ENSP00000304908	8.24E-06	CCDS42414.1		T:0	1	
PABPC5	0	LGGM	GRCh37	X	90691044	90691044	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	3	47	.	.	ENST00000312600.3:c.468C>T	p.Ala156=	p.A156=	ENST00000312600	NM_080832.2	156	gcC/gcT	0	1	1	UPI0000087790	0		ENST00000312600		ENSG00000174740	13629	0.000215	50			HGNC	p.A156A	rs770896837,COSM3425008	PABPC5		SNV						0,1	ENST00000312600	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		A		T		682/3221				Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,synonymous_variant,p.=,ENST00000312600,NM_080832.2;PABPC5,5_prime_UTR_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;					0,1		LOW	468/1149		PABP5_HUMAN			Transcript			.	ENSP00000308012	1.65E-05	CCDS14460.1			1	
IFNA14	0	LGGM	GRCh37	9	21239760	21239760	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	5	48	.	.	ENST00000380222.2:c.175T>C	p.Phe59Leu	p.F59L	ENST00000380222	NM_002172.2	59	Ttt/Ctt	0	1	1	UPI00000541D5	0	getma.org/pdb.php?prot=IFN14_HUMAN&from=26&to=187&var=F59L	ENST00000380222		ENSG00000228083	5420		53	3.47		HGNC	p.F59L		IFNA14		SNV							ENST00000380222	protein_coding	getma.org/?cm=var&var=hg19,9,21239760,A,G&fts=all		hmmpanther:PTHR11691:SF31,hmmpanther:PTHR11691,Gene3D:1.20.1250.10,Pfam_domain:PF00143,SMART_domains:SM00076,Superfamily_domains:SSF47266,Prints_domain:PR00266		F/L		G	medium	219/778		getma.org/?cm=msa&ty=f&p=IFN14_HUMAN&rb=26&re=187&var=F59L	deleterious(0)				YES	IFNA14,missense_variant,p.Phe59Leu,ENST00000380222,NM_002172.2;							MODERATE	175/570	F59L	IFN14_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000369571		CCDS6501.1			1	
GLI2	0	LGGM	GRCh37	2	121736031	121736031	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	33	50	.	.	ENST00000452319.1:c.1390C>A	p.His464Asn	p.H464N	ENST00000452319		464	Cac/Aac	0	1		UPI000053FCB4	0	getma.org/pdb.php?prot=GLI2_HUMAN&from=395&to=488&var=H464N	ENST00000361492		ENSG00000074047	4318		83	1.97		HGNC	p.H136N		GLI2		SNV			1				ENST00000314490	protein_coding	getma.org/?cm=var&var=hg19,2,121736031,C,A&fts=all		Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818		H/N		A	medium	1420/6768		getma.org/?cm=msa&ty=f&p=GLI2_HUMAN&rb=395&re=488&var=H464N	deleterious(0)	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN				GLI2,missense_variant,p.His464Asn,ENST00000452319,;GLI2,missense_variant,p.His464Asn,ENST00000361492,NM_005270.4;GLI2,missense_variant,p.His136Asn,ENST00000314490,;GLI2,non_coding_transcript_exon_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,;GLI2,downstream_gene_variant,,ENST00000433812,;							MODERATE	1390/4761	H464N	GLI2_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000354586		CCDS33283.1			1	
TENM2	0	LGGM	GRCh37	5	167673988	167673988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	39	51	.	.	ENST00000518659.1:c.6044G>T	p.Gly2015Val	p.G2015V	ENST00000518659	NM_001122679.1	2015	gGa/gTa	0	1	1	UPI0001C48FC2	0	NA	ENST00000518659		ENSG00000145934	29943		90	2.645		HGNC	p.G1776V		TENM2		SNV							ENST00000520394	protein_coding	getma.org/?cm=var&var=hg19,5,167673988,G,T&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8		G/V		T	medium	6083/8550		getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=1949&re=2148&var=G2015V	deleterious(0)	G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,missense_variant,p.Gly1894Val,ENST00000519204,;TENM2,missense_variant,p.Gly1839Val,ENST00000403607,;TENM2,missense_variant,p.Gly2015Val,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Gly2014Val,ENST00000545108,;TENM2,missense_variant,p.Gly1776Val,ENST00000520394,;							MODERATE	6044/8325	G2015V	TEN2_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000429430					1	
FSIP2	0	LGGM	GRCh37	2	186670248	186670248	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	53	.	.	ENST00000343098.5:c.16482C>T	p.Thr5494=	p.T5494=	ENST00000343098	NM_173651.2	5494	acC/acT	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		96			HGNC	p.T5405T	rs764682253	FSIP2	0.000183	SNV							ENST00000424728	protein_coding			hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		T		T		16215/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;							LOW	16215/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306	2.48E-05				1	
HMCN1	0	LGGM	GRCh37	1	186121937	186121937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	54	55	.	.	ENST00000271588.4:c.14952G>T	p.Leu4984Phe	p.L4984F	ENST00000271588	NM_031935.2	4984	ttG/ttT	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4869&to=5056&var=L4984F	ENST00000271588		ENSG00000143341	19194		109	2.26		HGNC	p.L4984F		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186121937,G,T&fts=all		Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,Low_complexity_(Seg):seg,SMART_domains:SM00682,Superfamily_domains:SSF54511		L/F		T	medium	15181/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4869&re=5056&var=L4984F					YES	HMCN1,missense_variant,p.Leu4984Phe,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Leu4984Phe,ENST00000367492,;HMCN1,upstream_gene_variant,,ENST00000475585,;							MODERATE	14952/16908	L4984F	HMCN1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000271588		CCDS30956.1			1	
SHPRH	0	LGGM	GRCh37	6	146275897	146275897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	68	56	.	.	ENST00000367505.2:c.562G>T	p.Asp188Tyr	p.D188Y	ENST00000367505		188	Gat/Tat	0	1		UPI0000458A24	0	NA	ENST00000275233		ENSG00000146414	19336		124	1.78		HGNC	p.D188Y		SHPRH		SNV							ENST00000275233	protein_coding	getma.org/?cm=var&var=hg19,6,146275897,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552		D/Y		A	low	961/6649		getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=1&re=267&var=D188Y	deleterious_low_confidence(0.01)					SHPRH,missense_variant,p.Asp188Tyr,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Asp188Tyr,ENST00000367505,;SHPRH,missense_variant,p.Asp188Tyr,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Asp188Tyr,ENST00000275233,;SHPRH,missense_variant,p.Asp166Tyr,ENST00000433355,;SHPRH,missense_variant,p.Asp77Tyr,ENST00000519632,;SHPRH,upstream_gene_variant,,ENST00000521977,;							MODERATE	562/5052	D188Y	SHPRH_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000275233		CCDS43513.2			1	
ANO3	0	LGGM	GRCh37	11	26581328	26581328	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	43	58	.	.	ENST00000256737.3:c.1447+2T>C		p.X483_splice	ENST00000256737	NM_031418.2			0	1	1	UPI00001F9ED8	0		ENST00000256737		ENSG00000134343	14004		101			HGNC	-		ANO3		SNV			1				ENST00000537978	protein_coding							C		-/6642				E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN			YES	ANO3,splice_donor_variant,,ENST00000256737,NM_031418.2;ANO3,splice_donor_variant,,ENST00000537978,;ANO3,splice_donor_variant,,ENST00000525139,;ANO3,splice_donor_variant,,ENST00000531568,;MUC15,3_prime_UTR_variant,,ENST00000436318,;MUC15,3_prime_UTR_variant,,ENST00000455601,NM_145650.3;MUC15,3_prime_UTR_variant,,ENST00000281268,NM_001135092.1;MUC15,downstream_gene_variant,,ENST00000529533,NM_001135091.1;MUC15,downstream_gene_variant,,ENST00000527569,;ANO3,splice_donor_variant,,ENST00000529242,;							HIGH	1447/2946		ANO3_HUMAN			Transcript			.	ENSP00000256737		CCDS31447.1			1	
ZNF175	0	LGGM	GRCh37	19	52091451	52091451	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	68	58	.	.	ENST00000262259.2:c.1867G>T	p.Ala623Ser	p.A623S	ENST00000262259	NM_007147.2	623	Gct/Tct	0	1	1	UPI000013C30A	0	getma.org/pdb.php?prot=ZN175_HUMAN&from=601&to=626&var=A623S	ENST00000262259		ENSG00000105497	12964		126	-0.475		HGNC	p.A623S		ZNF175		SNV							ENST00000262259	protein_coding	getma.org/?cm=var&var=hg19,19,52091451,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF37,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/S		T	neutral	2225/3742		getma.org/?cm=msa&ty=f&p=ZN175_HUMAN&rb=581&re=646&var=A623S	deleterious(0.02)				YES	ZNF175,missense_variant,p.Ala623Ser,ENST00000262259,NM_007147.2;ZNF175,intron_variant,,ENST00000436511,;AC018755.1,downstream_gene_variant,,ENST00000301439,;ZNF175,downstream_gene_variant,,ENST00000600460,;							MODERATE	1867/2136	A623S	ZN175_HUMAN			Transcript		benign(0.092)	.	ENSP00000262259		CCDS12837.1			1	
DAAM2	0	LGGM	GRCh37	6	39869208	39869208	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	178	60	.	.	ENST00000398904.2:c.2942G>C	p.Arg981Thr	p.R981T	ENST00000398904		981	aGg/aCg	0	1		UPI000020DC88	0	getma.org/pdb.php?prot=DAAM2_HUMAN&from=595&to=994&var=R981T	ENST00000274867		ENSG00000146122	18143		238	2.595		HGNC	p.R980T		DAAM2		SNV							ENST00000538976	protein_coding	getma.org/?cm=var&var=hg19,6,39869208,G,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,SMART_domains:SM00498,Superfamily_domains:SSF101447		R/T		C	medium	3098/6194		getma.org/?cm=msa&ty=f&p=DAAM2_HUMAN&rb=595&re=994&var=R981T	deleterious(0.01)					DAAM2,missense_variant,p.Arg980Thr,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Arg981Thr,ENST00000398904,;DAAM2,missense_variant,p.Arg981Thr,ENST00000274867,NM_001201427.1;MOCS1,downstream_gene_variant,,ENST00000373186,NM_005943.5;MOCS1,downstream_gene_variant,,ENST00000308559,;MOCS1,downstream_gene_variant,,ENST00000373175,;MOCS1,downstream_gene_variant,,ENST00000373188,NM_001075098.3;MOCS1,downstream_gene_variant,,ENST00000373195,;MOCS1,downstream_gene_variant,,ENST00000340692,;MOCS1,downstream_gene_variant,,ENST00000425303,;RP11-61I13.3,upstream_gene_variant,,ENST00000430595,;RP11-61I13.3,upstream_gene_variant,,ENST00000606829,;RP11-61I13.3,upstream_gene_variant,,ENST00000420293,;RP11-61I13.3,upstream_gene_variant,,ENST00000437947,;MOCS1,intron_variant,,ENST00000373181,;							MODERATE	2942/3207	R981T	DAAM2_HUMAN			Transcript		benign(0.031)	.	ENSP00000274867		CCDS56426.1			1	
BUB3	0	LGGM	GRCh37	10	124921866	124921866	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080411	H080411N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	63	84	.	.	ENST00000368865.4:c.691A>G	p.Ile231Val	p.I231V	ENST00000368865	NM_004725.3	231	Att/Gtt	0	1	1	UPI0000126B30	0	getma.org/pdb.php?prot=BUB3_HUMAN&from=125&to=231&var=I231V	ENST00000368865		ENSG00000154473	1151		147	0.695		HGNC	p.I151V		BUB3		SNV			1				ENST00000538238	protein_coding	getma.org/?cm=var&var=hg19,10,124921866,A,G&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF5,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		I/V		G	neutral	900/2731		getma.org/?cm=msa&ty=f&p=BUB3_HUMAN&rb=125&re=231&var=I231V	tolerated(1)	J3QT28_HUMAN,B4DDM6_HUMAN			YES	BUB3,missense_variant,p.Ile231Val,ENST00000368865,NM_004725.3;BUB3,missense_variant,p.Ile231Val,ENST00000368858,NM_001007793.2;BUB3,missense_variant,p.Ile151Val,ENST00000538238,;BUB3,missense_variant,p.Ile231Val,ENST00000407911,;BUB3,intron_variant,,ENST00000368859,;BUB3,non_coding_transcript_exon_variant,,ENST00000481952,;							MODERATE	691/987	I231V	BUB3_HUMAN			Transcript		benign(0.001)	.	ENSP00000357858		CCDS7635.1			1	
DNAH14	0	LGGM	GRCh37	1	225491047	225491047	+	missense_variant,splice_region_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	78	86	.	.	ENST00000327794.6:c.1934G>A	p.Glu646Lys	p.E646K	ENST00000327794		646	Gag/Aag	0	1		UPI0001642868	0	getma.org/pdb.php?prot=DYH14_HUMAN&from=2001&to=2245&var=E2195K	ENST00000445597		ENSG00000185842	2945		164	0.975		HGNC	p.E2195K		DNAH14		SNV							ENST00000445597	protein_coding	getma.org/?cm=var&var=hg19,1,225491047,G,A&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF12780,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676		E/K		A	low	6583/10524		getma.org/?cm=msa&ty=f&p=DYH14_HUMAN&rb=2001&re=2245&var=E2195K	tolerated(0.1)	C9JU64_HUMAN				DNAH14,missense_variant,p.Glu2848Lys,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Glu2848Lys,ENST00000439375,;DNAH14,missense_variant,p.Glu2195Lys,ENST00000445597,;DNAH14,missense_variant,p.Glu646Lys,ENST00000327794,;							MODERATE	6583/10524	E2195K	DYH14_HUMAN			Transcript		possibly_damaging(0.699)	.	ENSP00000409472					1	
C10orf12	0	LGGM	GRCh37	10	98742480	98742480	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080411	H080411N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	81	102	.	.	ENST00000286067.2:c.1333G>T	p.Asp445Tyr	p.D445Y	ENST00000286067	NM_015652.2	445	Gat/Tat	0	1	1	UPI000006F242	0	NA	ENST00000286067		ENSG00000155640	23420		183	0.55		HGNC	p.D445Y		C10orf12		SNV							ENST00000286067	protein_coding	getma.org/?cm=var&var=hg19,10,98742480,G,T&fts=all		hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2		D/Y		T	neutral	1440/4542		getma.org/?cm=msa&ty=f&p=CJ012_HUMAN&rb=420&re=619&var=D445Y	deleterious(0.02)				YES	C10orf12,missense_variant,p.Asp445Tyr,ENST00000286067,NM_015652.2;LCOR,downstream_gene_variant,,ENST00000498444,;							MODERATE	1333/3744	D445Y	CJ012_HUMAN			Transcript		benign(0.223)	.	ENSP00000286067		CCDS7452.1			1	
SPTA1	0	LGGM	GRCh37	1	158592945	158592945	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080411	H080411N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	140	137	.	.	ENST00000368147.4:c.5948A>G	p.Glu1983Gly	p.E1983G	ENST00000368147	NM_003126.2	1983	gAg/gGg	0	1	1	UPI0000458906	0	getma.org/pdb.php?prot=SPTA1_HUMAN&from=1928&to=2033&var=E1983G	ENST00000368147		ENSG00000163554	11272		277	2.275		HGNC	p.E1980G		SPTA1		SNV			1				ENST00000368147	protein_coding	getma.org/?cm=var&var=hg19,1,158592945,T,C&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966		E/G		C	medium	6129/7999		getma.org/?cm=msa&ty=f&p=SPTA1_HUMAN&rb=1928&re=2033&var=E1983G	deleterious(0.01)	O60686_HUMAN			YES	SPTA1,missense_variant,p.Glu1983Gly,ENST00000368147,NM_003126.2;SPTA1,non_coding_transcript_exon_variant,,ENST00000461624,;SPTA1,upstream_gene_variant,,ENST00000484520,;							MODERATE	5948/7260	E1983G	SPTA1_HUMAN			Transcript		benign(0.032)	.	ENSP00000357129		CCDS41423.1			1	
ZNF28	0	LGGM	GRCh37	19	53304795	53304795	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080411	H080411N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080411N.bam, H080411T.bam	Illumina HiSeq	149	147	.	.	ENST00000457749.2:c.303G>C	p.Trp101Cys	p.W101C	ENST00000457749	NM_006969.3	101	tgG/tgC	0	1	1	UPI00001D8190	0	NA	ENST00000457749		ENSG00000198538	13073		296	1.485		HGNC	p.W48C		ZNF28		SNV							ENST00000391783	protein_coding	getma.org/?cm=var&var=hg19,19,53304795,C,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226		W/C		G	low	423/4556		getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=49&re=248&var=W101C	tolerated(0.21)	C9K0H3_HUMAN			YES	ZNF28,missense_variant,p.Trp48Cys,ENST00000438150,;ZNF28,missense_variant,p.Trp101Cys,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Trp48Cys,ENST00000360272,;ZNF28,missense_variant,p.Trp48Cys,ENST00000414252,;ZNF28,missense_variant,p.Trp48Cys,ENST00000391783,;ZNF28,missense_variant,p.Trp98Cys,ENST00000596559,;ZNF28,3_prime_UTR_variant,,ENST00000594602,;ZNF28,3_prime_UTR_variant,,ENST00000339844,;							MODERATE	303/2157	W101C	ZNF28_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000397693		CCDS33093.2			1	
ARMCX4	0	LGGM	GRCh37	X	100743567	100743567	+	5_prime_UTR_variant	5'UTR	SNP	G	G	C	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	9	2	.	.	ENST00000423738.3:c.-10G>C		*4*	ENST00000423738	NM_001256155.1			0	1		UPI00006275C3	0		ENST00000433011		ENSG00000196440	28615		11			HGNC	p.R101S		ARMCX4		SNV							ENST00000433011	nonsense_mediated_decay			hmmpanther:PTHR15712		R/S		C		789/5399			deleterious_low_confidence(0.04)					ARMCX4,5_prime_UTR_variant,,ENST00000423738,NM_001256155.1;ARMCX4,missense_variant,p.Arg101Ser,ENST00000433011,;ARMCX4,missense_variant,p.Arg101Ser,ENST00000452188,;ARMCX4,missense_variant,p.Arg89Ser,ENST00000354842,;ARMCX4,missense_variant,p.Arg89Ser,ENST00000455331,;ARMCX4,intron_variant,,ENST00000442270,;ARMCX4,intron_variant,,ENST00000445416,;							MODERATE	303/1083		ARMX4_HUMAN			Transcript		benign(0.008)	.	ENSP00000424452					1	
H1FOO	0	LGGM	GRCh37	3	129268093	129268093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	5	2	.	.	ENST00000324382.2:c.628C>A	p.Gln210Lys	p.Q210K	ENST00000324382	NM_153833.1	210	Cag/Aag	0	1	1	UPI000007414E	0	NA	ENST00000324382		ENSG00000178804	18463		7	0.755		HGNC	p.Q210K		H1FOO		SNV							ENST00000324382	protein_coding	getma.org/?cm=var&var=hg19,3,129268093,C,A&fts=all		hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF22		Q/K		A	neutral	633/1067		getma.org/?cm=msa&ty=f&p=H1FOO_HUMAN&rb=134&re=344&var=Q210K	tolerated(1)				YES	H1FOO,missense_variant,p.Gln210Lys,ENST00000324382,NM_153833.1;H1FOO,missense_variant,p.Gln71Lys,ENST00000503977,;							MODERATE	628/1041	Q210K	H1FOO_HUMAN			Transcript		benign(0.001)	.	ENSP00000319799		CCDS3064.1			1	
NUMBL	0	LGGM	GRCh37	19	41183173	41183173	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	4	2	.	.	ENST00000252891.4:c.694C>A	p.Arg232=	p.R232=	ENST00000252891	NM_004756.3	232	Cgg/Agg	0	1	1	UPI000003032B	0		ENST00000252891		ENSG00000105245	8061		6			HGNC	p.R191R		NUMBL		SNV							ENST00000540131	protein_coding			hmmpanther:PTHR11232:SF32,hmmpanther:PTHR11232,PIRSF_domain:PIRSF017607		R		T		862/2775				M0R0Q4_HUMAN,M0QZV7_HUMAN,M0QYC2_HUMAN,B7Z5W0_HUMAN,A8K033_HUMAN			YES	NUMBL,synonymous_variant,p.=,ENST00000252891,NM_004756.3;NUMBL,synonymous_variant,p.=,ENST00000598779,;NUMBL,synonymous_variant,p.=,ENST00000540131,;NUMBL,synonymous_variant,p.=,ENST00000598773,;NUMBL,synonymous_variant,p.=,ENST00000600967,;NUMBL,downstream_gene_variant,,ENST00000595741,;NUMBL,downstream_gene_variant,,ENST00000600636,;NUMBL,non_coding_transcript_exon_variant,,ENST00000593367,;NUMBL,downstream_gene_variant,,ENST00000599786,;							LOW	694/1830		NUMBL_HUMAN			Transcript			.	ENSP00000252891		CCDS12561.1			1	
SPNS3	0	LGGM	GRCh37	17	4389582	4389582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	4	2	.	.	ENST00000355530.2:c.1239C>A	p.His413Gln	p.H413Q	ENST00000355530	NM_182538.4	413	caC/caA	0	1	1	UPI00001971EC	0	NA	ENST00000355530		ENSG00000182557	28433		6	3.295		HGNC	p.H286Q		SPNS3		SNV							ENST00000333476	protein_coding	getma.org/?cm=var&var=hg19,17,4389582,C,A&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24001:SF2,hmmpanther:PTHR24001,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		H/Q		A	medium	1519/2133		getma.org/?cm=msa&ty=f&p=SPNS3_HUMAN&rb=51&re=420&var=H413Q	deleterious(0)				YES	SPNS3,missense_variant,p.His413Gln,ENST00000355530,NM_182538.4;SPNS3,missense_variant,p.His286Gln,ENST00000333476,;RP13-580F15.2,non_coding_transcript_exon_variant,,ENST00000576086,;RP13-580F15.2,upstream_gene_variant,,ENST00000577176,;RP13-580F15.2,upstream_gene_variant,,ENST00000577064,;SPNS3,non_coding_transcript_exon_variant,,ENST00000575796,;SPNS3,3_prime_UTR_variant,,ENST00000575194,;							MODERATE	1239/1539	H413Q	SPNS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347721		CCDS11045.1			1	
TBC1D10C	0	LGGM	GRCh37	11	67177217	67177217	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	14	2	.	.	ENST00000312390.5:c.1333C>G	p.Arg445Gly	p.R445G	ENST00000312390	NM_198517.3	445	Cgc/Ggc	0	1		UPI00000746CA	0	NA	ENST00000542590		ENSG00000175463	24702		16	1.39		HGNC	p.R445G		TBC1D10C		SNV							ENST00000312390	protein_coding	getma.org/?cm=var&var=hg19,11,67177217,C,G&fts=all				R/G		G	low	1347/1659		getma.org/?cm=msa&ty=f&p=TB10C_HUMAN&rb=296&re=446&var=R445G	deleterious_low_confidence(0.03)					TBC1D10C,missense_variant,p.Arg445Gly,ENST00000312390,NM_198517.3;TBC1D10C,missense_variant,p.Arg445Gly,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,;							MODERATE	1333/1341	R445G	TB10C_HUMAN			Transcript		possibly_damaging(0.674)	.	ENSP00000443654		CCDS8162.1			1	
EDEM3	0	LGGM	GRCh37	1	184688576	184688576	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000318130.8:c.1077+1G>A		p.X359_splice	ENST00000318130	NM_025191.3			0	1	1	UPI0000470A2B	0		ENST00000318130		ENSG00000116406	16787		49			HGNC	-		EDEM3		SNV							ENST00000318130	protein_coding							T		-/6898				Q7L2Y5_HUMAN,H0Y498_HUMAN			YES	EDEM3,splice_donor_variant,,ENST00000318130,NM_025191.3;EDEM3,splice_donor_variant,,ENST00000367512,;EDEM3,downstream_gene_variant,,ENST00000474725,;							HIGH	1077/2799		EDEM3_HUMAN			Transcript			.	ENSP00000318147		CCDS1363.2			1	
SSU72	0	LGGM	GRCh37	1	1479368	1479368	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	31	3	.	.	ENST00000291386.3:c.365-1G>T		p.X122_splice	ENST00000291386	NM_014188.2			0	1	1	UPI00000437EE	0		ENST00000291386		ENSG00000160075	25016		34			HGNC	-		SSU72		SNV							ENST00000291386	protein_coding							A		-/1290							YES	SSU72,splice_acceptor_variant,,ENST00000291386,NM_014188.2;TMEM240,upstream_gene_variant,,ENST00000378733,NM_001114748.1;TMEM240,upstream_gene_variant,,ENST00000425828,;SSU72,splice_acceptor_variant,,ENST00000378726,;SSU72,downstream_gene_variant,,ENST00000378725,;							HIGH	365/585		SSU72_HUMAN			Transcript			.	ENSP00000291386		CCDS32.1			1	
POLR2J2	0	LGGM	GRCh37	7	102311998	102311998	+	splice_donor_variant,NMD_transcript_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	32	3	.	.	ENST00000476151.1:c.50+1G>T		p.X17_splice	ENST00000476151				0	1		UPI0000508BB7	0		ENST00000333432		ENSG00000228049	23208		35			Clone_based_vega_gene	-		POLR2J2		SNV							ENST00000444969	protein_coding							A		-/351				A6NJ25_HUMAN				POLR2J2,splice_donor_variant,,ENST00000591000,NM_032959.5;POLR2J2,splice_donor_variant,,ENST00000358438,;POLR2J2,splice_donor_variant,,ENST00000333432,;POLR2J2,splice_donor_variant,,ENST00000476151,;							HIGH	50/351					Transcript			.	ENSP00000330898					1	
TTLL11	0	LGGM	GRCh37	9	124794002	124794002	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	38	3	.	.	ENST00000321582.5:c.963G>T	p.Gln321His	p.Q321H	ENST00000321582	NM_001139442.1	321	caG/caT	0	1	1	UPI0000E0BF7B	0	getma.org/pdb.php?prot=TTL11_HUMAN&from=263&to=515&var=Q321H	ENST00000321582		ENSG00000175764	18113		41	0.84		HGNC	p.Q321H		TTLL11		SNV							ENST00000373776	protein_coding	getma.org/?cm=var&var=hg19,9,124794002,C,A&fts=all		Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF95		Q/H		A	low	1151/3250		getma.org/?cm=msa&ty=f&p=TTL11_HUMAN&rb=263&re=515&var=Q321H	tolerated(0.11)	F8W6M1_HUMAN			YES	TTLL11,missense_variant,p.Gln321His,ENST00000321582,NM_001139442.1;TTLL11,missense_variant,p.Gln321His,ENST00000373776,NM_194252.2;TTLL11,intron_variant,,ENST00000474723,;TTLL11,intron_variant,,ENST00000373778,;TTLL11,intron_variant,,ENST00000487468,;							MODERATE	963/2403	Q321H				Transcript		benign(0.064)	.	ENSP00000321346		CCDS48012.1			1	
MTMR9	0	LGGM	GRCh37	8	11180296	11180296	+	stop_retained_variant	Silent	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	22	3	.	.	ENST00000221086.3:c.1649G>A	p.Ter550=	p.*550=	ENST00000221086	NM_015458.3	550	tGa/tAa	0	1	1	UPI0000073CA7	0		ENST00000221086		ENSG00000104643	14596		25			HGNC	p.X550X		MTMR9		SNV							ENST00000221086	protein_coding					*		A		2122/7472				Q9Y4N6_HUMAN,B7Z291_HUMAN			YES	MTMR9,stop_retained_variant,p.=,ENST00000221086,NM_015458.3;MTMR9,stop_retained_variant,p.=,ENST00000526292,;AF131216.6,intron_variant,,ENST00000498997,;MTMR9,3_prime_UTR_variant,,ENST00000530200,;							LOW	1649/1650		MTMR9_HUMAN			Transcript			.	ENSP00000221086		CCDS5979.1			1	
CSF2	0	LGGM	GRCh37	5	131410589	131410589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000296871.2:c.288G>T	p.Met96Ile	p.M96I	ENST00000296871	NM_000758.3	96	atG/atT	0	1	1	UPI00000358DB	0	getma.org/pdb.php?prot=CSF2_HUMAN&from=18&to=139&var=M96I	ENST00000296871		ENSG00000164400	2434		31	1.195		HGNC	p.M96I		CSF2		SNV							ENST00000296871	protein_coding	getma.org/?cm=var&var=hg19,5,131410589,G,T&fts=all		hmmpanther:PTHR10059,hmmpanther:PTHR10059:SF0,Pfam_domain:PF01109,Gene3D:1.20.1250.10,SMART_domains:SM00040,Superfamily_domains:SSF47266,Prints_domain:PR00693		M/I		T	low	322/783		getma.org/?cm=msa&ty=f&p=CSF2_HUMAN&rb=18&re=139&var=M96I	tolerated(0.41)				YES	CSF2,missense_variant,p.Met96Ile,ENST00000296871,NM_000758.3;							MODERATE	288/435	M96I	CSF2_HUMAN			Transcript		benign(0.02)	.	ENSP00000296871		CCDS4150.1			1	
SPATA17	0	LGGM	GRCh37	1	217955659	217955659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000366933.4:c.867C>A	p.Asp289Glu	p.D289E	ENST00000366933	NM_138796.2	289	gaC/gaA	0	1	1	UPI00000717C2	0	NA	ENST00000366933		ENSG00000162814	25184		44	1.755		HGNC	p.D289E	rs753657074	SPATA17		SNV							ENST00000366933	protein_coding	getma.org/?cm=var&var=hg19,1,217955659,C,A&fts=all		hmmpanther:PTHR22706		D/E		A	low	922/5818	1.51E-05	getma.org/?cm=msa&ty=f&p=SPT17_HUMAN&rb=116&re=359&var=D289E	tolerated(0.11)	R4GN71_HUMAN			YES	SPATA17,missense_variant,p.Asp289Glu,ENST00000366933,NM_138796.2;SPATA17-AS1,intron_variant,,ENST00000415765,;SPATA17,non_coding_transcript_exon_variant,,ENST00000492747,;							MODERATE	867/1086	D289E	SPT17_HUMAN			Transcript		benign(0.242)	.	ENSP00000355900	8.24E-06	CCDS1519.1			1	
MADD	0	LGGM	GRCh37	11	47336810	47336810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	30	3	.	.	ENST00000311027.5:c.4309C>A	p.His1437Asn	p.H1437N	ENST00000311027	NM_003682.3	1437	Cac/Aac	0	1	1	UPI000013E874	0	NA	ENST00000311027		ENSG00000110514	6766		33	1.04		HGNC	p.H1331N		MADD		SNV							ENST00000395344	protein_coding	getma.org/?cm=var&var=hg19,11,47336810,C,A&fts=all		hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008		H/N		A	low	4474/5990		getma.org/?cm=msa&ty=f&p=MADD_HUMAN&rb=1277&re=1629&var=H1437N	tolerated(0.12)	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN			YES	MADD,missense_variant,p.His1378Asn,ENST00000342922,NM_130470.2;MADD,missense_variant,p.His1437Asn,ENST00000311027,NM_003682.3;MADD,missense_variant,p.His1437Asn,ENST00000395336,NM_130475.2;MADD,missense_variant,p.His1398Asn,ENST00000349238,NM_130473.2;MADD,missense_variant,p.His1377Asn,ENST00000402192,NM_001135943.1,NM_130476.2;MADD,missense_variant,p.His1355Asn,ENST00000407859,NM_130471.2;MADD,missense_variant,p.His1335Asn,ENST00000402799,NM_001135944.1,NM_130472.2;MADD,missense_variant,p.His1335Asn,ENST00000406482,NM_130474.2;MADD,missense_variant,p.His1331Asn,ENST00000395344,;MADD,missense_variant,p.His247Asn,ENST00000405573,;							MODERATE	4309/4944	H1437N	MADD_HUMAN			Transcript		possibly_damaging(0.635)	.	ENSP00000310933		CCDS7930.1			1	
ABI3BP	0	LGGM	GRCh37	3	100568951	100568951	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000284322.5:c.1313C>A	p.Thr438Lys	p.T438K	ENST00000284322	NM_015429.3	438	aCa/aAa	0	1	1	UPI000011C136	0	NA	ENST00000284322		ENSG00000154175	17265		44	0.9		HGNC	p.T438K	rs367988964	ABI3BP		SNV	T:0						ENST00000284322	protein_coding	getma.org/?cm=var&var=hg19,3,100568951,G,T&fts=all		Prints_domain:PR01217,hmmpanther:PTHR23197		T/K	T:0.0001	T	low	1423/4498	4.56E-05	getma.org/?cm=msa&ty=f&p=TARSH_HUMAN&rb=401&re=600&var=T438K	tolerated(0.07)				YES	ABI3BP,missense_variant,p.Thr487Lys,ENST00000471714,;ABI3BP,missense_variant,p.Thr438Lys,ENST00000284322,NM_015429.3;ABI3BP,missense_variant,p.Thr487Lys,ENST00000495063,;ABI3BP,missense_variant,p.Thr116Lys,ENST00000533855,;ABI3BP,missense_variant,p.Thr64Lys,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,;							MODERATE	1313/3228	T438K	TARSH_HUMAN			Transcript		benign(0.403)	.	ENSP00000284322	1.66E-05	CCDS46880.1			1	
IGBP1	0	LGGM	GRCh37	X	69370170	69370170	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	12	3	.	.	ENST00000342206.6:c.869C>A	p.Pro290Gln	p.P290Q	ENST00000342206		290	cCa/cAa	0	1	1	UPI0000119C1E	0	NA	ENST00000342206		ENSG00000089289	5461		15	1.24		HGNC	p.P290Q		IGBP1		SNV			1				ENST00000356413	protein_coding	getma.org/?cm=var&var=hg19,X,69370170,C,A&fts=all		Pfam_domain:PF04177,hmmpanther:PTHR10933,hmmpanther:PTHR10933:SF9		P/Q		A	low	1368/1862		getma.org/?cm=msa&ty=f&p=IGBP1_HUMAN&rb=11&re=329&var=P290Q	deleterious(0.01)				YES	IGBP1,missense_variant,p.Pro290Gln,ENST00000342206,;IGBP1,missense_variant,p.Pro290Gln,ENST00000356413,NM_001551.2;IGBP1-AS2,upstream_gene_variant,,ENST00000403371,;							MODERATE	869/1020	P290Q	IGBP1_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000363661		CCDS14396.1			1	
OR10AD1	0	LGGM	GRCh37	12	48596262	48596262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	20	3	.	.	ENST00000310248.2:c.814G>T	p.Asp272Tyr	p.D272Y	ENST00000310248	NM_001004134.1	272	Gac/Tac	0	1	1	UPI0000041ECE	0	NA	ENST00000310248		ENSG00000172640	14819		23	3.145		HGNC	p.D272Y		OR10AD1		SNV							ENST00000310248	protein_coding	getma.org/?cm=var&var=hg19,12,48596262,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF215,Superfamily_domains:SSF81321		D/Y		A	medium	909/1090		getma.org/?cm=msa&ty=f&p=O10AD_HUMAN&rb=140&re=284&var=D272Y	deleterious(0)				YES	OR10AD1,missense_variant,p.Asp272Tyr,ENST00000310248,NM_001004134.1;DKFZP779L1853,downstream_gene_variant,,ENST00000595310,;							MODERATE	814/954	D272Y	O10AD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308689		CCDS31787.1			1	
ATXN2L	0	LGGM	GRCh37	16	28838233	28838233	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	32	3	.	.	ENST00000395547.2:c.667C>A	p.His223Asn	p.H223N	ENST00000395547	NM_148414.2	223	Cac/Aac	0	1		UPI0000160B8E	0	NA	ENST00000336783		ENSG00000168488	31326		35	2.08		HGNC	p.H92N		ATXN2L		SNV							ENST00000565971	protein_coding	getma.org/?cm=var&var=hg19,16,28838233,C,A&fts=all		hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF8		H/N		A	medium	834/4367		getma.org/?cm=msa&ty=f&p=ATX2L_HUMAN&rb=121&re=230&var=H223N	deleterious(0.01)	H3BSQ5_HUMAN,H3BRB0_HUMAN				ATXN2L,missense_variant,p.His223Asn,ENST00000336783,NM_007245.3;ATXN2L,missense_variant,p.His223Asn,ENST00000395547,NM_148414.2;ATXN2L,missense_variant,p.His223Asn,ENST00000340394,NM_148416.2,NM_148415.2;ATXN2L,missense_variant,p.His223Asn,ENST00000325215,NM_017492.3,NM_145714.2;ATXN2L,missense_variant,p.His223Asn,ENST00000382686,;ATXN2L,missense_variant,p.His223Asn,ENST00000570200,;ATXN2L,missense_variant,p.His223Asn,ENST00000564304,;ATXN2L,missense_variant,p.His163Asn,ENST00000568266,;ATXN2L,downstream_gene_variant,,ENST00000564656,;RP11-1348G14.5,upstream_gene_variant,,ENST00000568183,;RP11-24N18.1,downstream_gene_variant,,ENST00000563565,;ATXN2L,upstream_gene_variant,,ENST00000570284,;ATXN2L,missense_variant,p.His92Asn,ENST00000565971,;ATXN2L,non_coding_transcript_exon_variant,,ENST00000563314,;ATXN2L,downstream_gene_variant,,ENST00000562867,;ATXN2L,upstream_gene_variant,,ENST00000564284,;ATXN2L,downstream_gene_variant,,ENST00000561539,;ATXN2L,downstream_gene_variant,,ENST00000566080,;							MODERATE	667/3228	H223N	ATX2L_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000338718		CCDS10641.1			1	
IBSP	0	LGGM	GRCh37	4	88727291	88727291	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	43	3	.	.	ENST00000226284.5:c.201C>A	p.Ser67=	p.S67=	ENST00000226284	NM_004967.3	67	tcC/tcA	0	1	1	UPI000013C899	0		ENST00000226284		ENSG00000029559	5341		46			HGNC	p.S67S		IBSP		SNV							ENST00000226284	protein_coding			Pfam_domain:PF05432,hmmpanther:PTHR10345,hmmpanther:PTHR10345:SF0,Low_complexity_(Seg):seg		S		A		268/1033							YES	IBSP,synonymous_variant,p.=,ENST00000226284,NM_004967.3;							LOW	201/954		SIAL_HUMAN			Transcript			.	ENSP00000226284		CCDS3624.1			1	
RPS6	0	LGGM	GRCh37	9	19379558	19379558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	45	3	.	.	ENST00000380394.4:c.65G>T	p.Arg22Leu	p.R22L	ENST00000380394	NM_001010.2	22	cGc/cTc	0	1	1	UPI00000018E3	0	getma.org/pdb.php?prot=RS6_HUMAN&from=1&to=127&var=R22L	ENST00000380394		ENSG00000137154	10429		48	1.255		HGNC	p.R22L		RPS6		SNV							ENST00000380381	protein_coding	getma.org/?cm=var&var=hg19,9,19379558,C,A&fts=all		hmmpanther:PTHR11502,hmmpanther:PTHR11502:SF6,Pfam_domain:PF01092,PIRSF_domain:PIRSF002129		R/L		A	low	124/1387		getma.org/?cm=msa&ty=f&p=RS6_HUMAN&rb=1&re=127&var=R22L	tolerated(0.17)	A2A3R6_HUMAN,A2A3R5_HUMAN			YES	RPS6,missense_variant,p.Arg22Leu,ENST00000380394,NM_001010.2;RPS6,missense_variant,p.Arg22Leu,ENST00000380381,;RPS6,5_prime_UTR_variant,,ENST00000380384,;RPS6,5_prime_UTR_variant,,ENST00000315377,;RP11-513M16.8,downstream_gene_variant,,ENST00000609982,;RPS6,upstream_gene_variant,,ENST00000498815,;NDUFA5P3,downstream_gene_variant,,ENST00000449348,;							MODERATE	65/750	R22L	RS6_HUMAN			Transcript		benign(0.015)	.	ENSP00000369757		CCDS6492.1			1	
ADAM33	0	LGGM	GRCh37	20	3652102	3652102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000356518.2:c.1947G>T	p.Glu649Asp	p.E649D	ENST00000356518	NM_025220.2	649	gaG/gaT	0	1	1	UPI0000048F2A	0	NA	ENST00000356518		ENSG00000149451	15478		31	1.995		HGNC	p.E649D		ADAM33		SNV			1				ENST00000356518	protein_coding	getma.org/?cm=var&var=hg19,20,3652102,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR11905:SF38,hmmpanther:PTHR11905		E/D		A	medium	2189/3677		getma.org/?cm=msa&ty=f&p=ADA33_HUMAN&rb=649&re=681&var=E649D	tolerated(0.2)	Q8N6B9_HUMAN			YES	ADAM33,missense_variant,p.Glu649Asp,ENST00000356518,NM_025220.2;ADAM33,missense_variant,p.Glu649Asp,ENST00000379861,NM_001282447.1;ADAM33,intron_variant,,ENST00000350009,NM_153202.1;ADAM33,intron_variant,,ENST00000466620,;ADAM33,upstream_gene_variant,,ENST00000483362,;							MODERATE	1947/2442	E649D	ADA33_HUMAN			Transcript		benign(0.085)	.	ENSP00000348912		CCDS13058.1			1	
GDF5	0	LGGM	GRCh37	20	34025135	34025135	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	25	3	.	.	ENST00000374372.1:c.574G>T	p.Val192Leu	p.V192L	ENST00000374372		192	Gtg/Ttg	0	1		UPI000002E33B	0	NA	ENST00000374369		ENSG00000125965	4220		28	0.715		HGNC	p.V192L		GDF5		SNV			1				ENST00000374372	protein_coding	getma.org/?cm=var&var=hg19,20,34025135,C,A&fts=all		hmmpanther:PTHR11848:SF44,hmmpanther:PTHR11848,Pfam_domain:PF00688		V/L		A	neutral	889/2383		getma.org/?cm=msa&ty=f&p=GDF5_HUMAN&rb=141&re=345&var=V192L	tolerated(0.75)	D3YR76_HUMAN,D3YQT0_HUMAN				GDF5,missense_variant,p.Val192Leu,ENST00000374372,;GDF5,missense_variant,p.Val192Leu,ENST00000374369,NM_000557.2;GDF5OS,downstream_gene_variant,,ENST00000374375,;							MODERATE	574/1506	V192L	GDF5_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000363489		CCDS13254.1			1	
SERPINB12	0	LGGM	GRCh37	18	61232828	61232828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000269491.1:c.796C>A	p.Leu266Met	p.L266M	ENST00000269491	NM_080474.1	266	Ctg/Atg	0	1	1	UPI0000135590	0	getma.org/pdb.php?prot=SPB12_HUMAN&from=6&to=405&var=L266M	ENST00000269491		ENSG00000166634	14220		49	1.59		HGNC	p.L266M		SERPINB12		SNV							ENST00000269491	protein_coding	getma.org/?cm=var&var=hg19,18,61232828,C,A&fts=all		hmmpanther:PTHR11461:SF125,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		L/M		A	low	796/1218		getma.org/?cm=msa&ty=f&p=SPB12_HUMAN&rb=6&re=405&var=L266M	tolerated(0.13)	Q3SYB5_HUMAN			YES	SERPINB12,missense_variant,p.Leu286Met,ENST00000382768,;SERPINB12,missense_variant,p.Leu266Met,ENST00000269491,NM_080474.1;							MODERATE	796/1218	L266M	SPB12_HUMAN			Transcript		benign(0.1)	.	ENSP00000269491		CCDS11984.1			1	
KIF19	0	LGGM	GRCh37	17	72351419	72351419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	36	3	.	.	ENST00000389916.4:c.2965C>A	p.His989Asn	p.H989N	ENST00000389916	NM_153209.3	989	Cat/Aat	0	1	1	UPI0000F0A553	0	NA	ENST00000389916		ENSG00000196169	26735		39	0.69		HGNC	p.H989N		KIF19		SNV							ENST00000389916	protein_coding	getma.org/?cm=var&var=hg19,17,72351419,C,A&fts=all				H/N		A	neutral	3103/3643		getma.org/?cm=msa&ty=f&p=KIF19_HUMAN&rb=427&re=996&var=H989N	tolerated_low_confidence(0.2)				YES	KIF19,missense_variant,p.His989Asn,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;AC103809.2,upstream_gene_variant,,ENST00000599136,;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;							MODERATE	2965/2997	H989N	KIF19_HUMAN			Transcript		benign(0.021)	.	ENSP00000374566		CCDS32718.2			1	
ARHGAP10	0	LGGM	GRCh37	4	148944427	148944427	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	39	3	.	.	ENST00000336498.3:c.1730C>A	p.Pro577Gln	p.P577Q	ENST00000336498	NM_024605.3	577	cCg/cAg	0	1	1	UPI000013EA63	0	getma.org/pdb.php?prot=RHG10_HUMAN&from=552&to=616&var=P577Q	ENST00000336498		ENSG00000071205	26099		42	0.97		HGNC	p.P226Q		ARHGAP10		SNV							ENST00000414545	protein_coding	getma.org/?cm=var&var=hg19,4,148944427,C,A&fts=all		hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1.10.555.10,Superfamily_domains:SSF48350		P/Q		A	low	1969/3299		getma.org/?cm=msa&ty=f&p=RHG10_HUMAN&rb=552&re=616&var=P577Q	tolerated(0.07)	Q8ND72_HUMAN,Q3KQX3_HUMAN			YES	ARHGAP10,missense_variant,p.Pro577Gln,ENST00000336498,NM_024605.3;ARHGAP10,missense_variant,p.Pro255Gln,ENST00000507661,;ARHGAP10,missense_variant,p.Pro226Gln,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000513548,;							MODERATE	1730/2361	P577Q	RHG10_HUMAN			Transcript		benign(0.109)	.	ENSP00000336923		CCDS34075.1			1	
LAMA3	0	LGGM	GRCh37	18	21444805	21444805	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000313654.9:c.4641C>A	p.Gly1547=	p.G1547=	ENST00000313654	NM_198129.1	1547	ggC/ggA	0	1	1	UPI00001C1222	0		ENST00000313654		ENSG00000053747	6483		44			HGNC	p.G1547G		LAMA3		SNV			1				ENST00000313654	protein_coding			PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF00052,SMART_domains:SM00281		G		A		4882/10661				B0YJ32_HUMAN			YES	LAMA3,synonymous_variant,p.=,ENST00000313654,NM_198129.1;LAMA3,synonymous_variant,p.=,ENST00000399516,NM_001127717.1;							LOW	4641/10002		LAMA3_HUMAN			Transcript			.	ENSP00000324532		CCDS42419.1			1	
IRF6	0	LGGM	GRCh37	1	209963898	209963898	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	3	.	.	ENST00000367021.3:c.1002C>A	p.Pro334=	p.P334=	ENST00000367021	NM_006147.3	334	ccC/ccA	0	1	1	UPI000012D88D	0		ENST00000367021		ENSG00000117595	6121		38			HGNC	p.P334P		IRF6		SNV			1				ENST00000367021	protein_coding			hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF9,Gene3D:2.60.200.10,Pfam_domain:PF10401,Superfamily_domains:SSF49879		P		T		1175/4306				G0Z349_HUMAN,B1AJU4_HUMAN			YES	IRF6,synonymous_variant,p.=,ENST00000367021,NM_006147.3;IRF6,synonymous_variant,p.=,ENST00000542854,NM_001206696.1;IRF6,downstream_gene_variant,,ENST00000456314,;RP3-434O14.8,upstream_gene_variant,,ENST00000430751,;IRF6,downstream_gene_variant,,ENST00000464698,;							LOW	1002/1404		IRF6_HUMAN			Transcript			.	ENSP00000355988		CCDS1492.1			1	
DCST2	0	LGGM	GRCh37	1	154998824	154998824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	40	3	.	.	ENST00000368424.3:c.1565G>T	p.Arg522Leu	p.R522L	ENST00000368424	NM_144622.2	522	cGg/cTg	0	1	1	UPI0000D959B3	0	NA	ENST00000368424		ENSG00000163354	26562		43	2.69		HGNC	p.R522L		DCST2		SNV							ENST00000295536	protein_coding	getma.org/?cm=var&var=hg19,1,154998824,C,A&fts=all		Pfam_domain:PF07782,hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF1		R/L		A	medium	1624/2392		getma.org/?cm=msa&ty=f&p=DCST2_HUMAN&rb=354&re=544&var=R522L	deleterious(0)	Q8N1J0_HUMAN			YES	DCST2,missense_variant,p.Arg522Leu,ENST00000368424,NM_144622.2;DCST2,missense_variant,p.Arg522Leu,ENST00000295536,;DCST2,missense_variant,p.Arg522Leu,ENST00000485982,;DCST2,non_coding_transcript_exon_variant,,ENST00000368423,;DCST2,non_coding_transcript_exon_variant,,ENST00000498036,;DCST2,intron_variant,,ENST00000467991,;							MODERATE	1565/2322	R522L	DCST2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357409		CCDS1082.2			1	
CACNA1A	0	LGGM	GRCh37	19	13409884	13409884	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	13	3	.	.	ENST00000360228.5:c.2563G>T	p.Glu855Ter	p.E855*	ENST00000360228	NM_001127222.1	855	Gag/Tag	0	1	1	UPI0000141565	0	NA	ENST00000360228		ENSG00000141837	1388		16	0		HGNC	p.E856X		CACNA1A		SNV			1				ENST00000325084	protein_coding	getma.org/?cm=var&var=hg19,19,13409884,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59		E/*		A	NA	2563/8392		NA		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,stop_gained,p.Glu855Ter,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,stop_gained,p.Glu856Ter,ENST00000573710,NM_001127221.1;							HIGH	2563/7521	E856*	CAC1A_HUMAN			Transcript			.	ENSP00000353362		CCDS45998.1			1	
LIPC	0	LGGM	GRCh37	15	58838167	58838167	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	20	3	.	.	ENST00000356113.6:c.801C>A	p.Gly267=	p.G267=	ENST00000356113		267	ggC/ggA	0	1		UPI000013E54D	0		ENST00000299022		ENSG00000166035	6619		23			HGNC	p.G206G		LIPC		SNV			1				ENST00000433326	protein_coding			hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF2,Gene3D:3.40.50.1820,Pfam_domain:PF00151,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474		G		A		1036/1782								LIPC,synonymous_variant,p.=,ENST00000414170,;LIPC,synonymous_variant,p.=,ENST00000356113,;LIPC,synonymous_variant,p.=,ENST00000299022,NM_000236.2;LIPC,synonymous_variant,p.=,ENST00000433326,;LIPC,non_coding_transcript_exon_variant,,ENST00000559845,;LIPC,non_coding_transcript_exon_variant,,ENST00000560664,;							LOW	801/1500		LIPC_HUMAN			Transcript			.	ENSP00000299022		CCDS10166.1			1	
RNF17	0	LGGM	GRCh37	13	25406115	25406115	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	39	3	.	.	ENST00000255324.5:c.2481C>A	p.Ile827=	p.I827=	ENST00000255324	NM_031277.2	827	atC/atA	0	1	1	UPI00001FC8BA	0		ENST00000255324		ENSG00000132972	10060		42			HGNC	p.I827I		RNF17		SNV							ENST00000381921	protein_coding			hmmpanther:PTHR16442,Gene3D:2.40.50.90,Superfamily_domains:0047647		I		A		2533/5119							YES	RNF17,splice_region_variant,p.=,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,splice_region_variant,p.=,ENST00000381921,;RNF17,splice_region_variant,p.=,ENST00000418120,;							LOW	2481/4872		RNF17_HUMAN			Transcript			.	ENSP00000255324		CCDS9308.2			1	
SH3RF3	0	LGGM	GRCh37	2	110259208	110259208	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	12	3	.	.	ENST00000309415.6:c.2609G>T	p.Arg870Leu	p.R870L	ENST00000309415	NM_001099289.1	870	cGc/cTc	0	1	1	UPI0000DD7AEA	0		ENST00000309415		ENSG00000172985	24699		15			HGNC	p.R870L	rs372085001	SH3RF3		SNV	A:0.0002						ENST00000309415	protein_coding		A:0	Gene3D:2.30.30.40,Pfam_domain:PF14604,PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,SMART_domains:SM00326,Superfamily_domains:SSF50044		R/L	A:0	T		2609/2649	2.20E-05		deleterious(0.04)	C9JNJ4_HUMAN	A:0.0014	A:0	YES	SH3RF3,missense_variant,p.Arg44Leu,ENST00000444352,NM_001099289.1;SH3RF3,missense_variant,p.Arg870Leu,ENST00000309415,NM_001099289.1;		A:0.0002					MODERATE	2609/2649		SH3R3_HUMAN		A:0	Transcript		probably_damaging(0.909)	.	ENSP00000309186	8.27E-06			A:0	1	
SPEN	0	LGGM	GRCh37	1	16265261	16265261	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	26	3	.	.	ENST00000375759.3:c.10753C>G	p.Gln3585Glu	p.Q3585E	ENST00000375759	NM_015001.2	3585	Caa/Gaa	0	1	1	UPI000006FF0C	0	getma.org/pdb.php?prot=MINT_HUMAN&from=3509&to=3630&var=Q3585E	ENST00000375759		ENSG00000065526	17575		29	0.28		HGNC	p.Q3585E	rs374588734	SPEN		SNV	G:0						ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16265261,C,G&fts=all		PROSITE_profiles:PS50917,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189,Pfam_domain:PF07744,Gene3D:2.40.290.10,Superfamily_domains:SSF100939		Q/E	G:0.0001	G	neutral	10957/12232	4.52E-05	getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=3509&re=3630&var=Q3585E					YES	SPEN,missense_variant,p.Gln3585Glu,ENST00000375759,NM_015001.2;ZBTB17,downstream_gene_variant,,ENST00000375733,NM_001287603.1;ZBTB17,downstream_gene_variant,,ENST00000375743,NM_003443.2,NM_001287604.1;ZBTB17,downstream_gene_variant,,ENST00000537142,NM_001242884.1;ZBTB17,downstream_gene_variant,,ENST00000440560,;ZBTB17,downstream_gene_variant,,ENST00000444358,;SPEN,non_coding_transcript_exon_variant,,ENST00000487496,;ZBTB17,downstream_gene_variant,,ENST00000474511,;ZBTB17,downstream_gene_variant,,ENST00000462525,;ZBTB17,downstream_gene_variant,,ENST00000472658,;ZBTB17,downstream_gene_variant,,ENST00000471805,;ZBTB17,downstream_gene_variant,,ENST00000488008,;ZBTB17,downstream_gene_variant,,ENST00000487785,;							MODERATE	10753/10995	Q3585E	MINT_HUMAN			Transcript		benign(0.397)	.	ENSP00000364912	2.47E-05	CCDS164.1			1	
RTEL1	0	LGGM	GRCh37	20	62328332	62328332	+	downstream_gene_variant	3'Flank	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	13	3	.	.				ENST00000508582				0	1		UPI000006F635	0	getma.org/pdb.php?prot=TNF6B_HUMAN&from=1&to=72&var=G71V	ENST00000370018		ENSG00000258366	15888		16	1.32	726	HGNC	p.W1373C		RTEL1		SNV			1				ENST00000482936	protein_coding	getma.org/?cm=var&var=hg19,20,62328332,G,T&fts=all						T	low	-/4955		getma.org/?cm=msa&ty=f&p=TNF6B_HUMAN&rb=1&re=72&var=G71V						RTEL1,missense_variant,p.Trp1373Cys,ENST00000318100,;TNFRSF6B,missense_variant,p.Gly71Val,ENST00000369996,NM_003823.3;RTEL1,downstream_gene_variant,,ENST00000370018,NM_032957.4,NM_016434.3;RTEL1,downstream_gene_variant,,ENST00000360203,NM_001283009.1;RTEL1,downstream_gene_variant,,ENST00000508582,;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,;RTEL1,downstream_gene_variant,,ENST00000370003,;ARFRP1,downstream_gene_variant,,ENST00000609142,;ARFRP1,downstream_gene_variant,,ENST00000324228,NM_001267548.1;ARFRP1,downstream_gene_variant,,ENST00000217224,;ARFRP1,downstream_gene_variant,,ENST00000607873,NM_001267546.1;ARFRP1,downstream_gene_variant,,ENST00000485858,;ARFRP1,downstream_gene_variant,,ENST00000609188,;RTEL1-TNFRSF6B,missense_variant,p.Trp1373Cys,ENST00000482936,;RTEL1-TNFRSF6B,3_prime_UTR_variant,,ENST00000492259,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000480273,;RTEL1-TNFRSF6B,non_coding_transcript_exon_variant,,ENST00000496281,;ARFRP1,downstream_gene_variant,,ENST00000609243,;RTEL1,downstream_gene_variant,,ENST00000496816,;ARFRP1,downstream_gene_variant,,ENST00000610136,;ARFRP1,downstream_gene_variant,,ENST00000609537,;							MODIFIER	-/3660	G71V	RTEL1_HUMAN			Transcript			.	ENSP00000359035		CCDS13531.1			1	
PHC2	0	LGGM	GRCh37	1	33836022	33836022	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	19	3	.	.	ENST00000257118.5:c.576G>T	p.Met192Ile	p.M192I	ENST00000257118	NM_198040.2	192	atG/atT	0	1	1	UPI0000074391	0	NA	ENST00000257118		ENSG00000134686	3183		22	2.365		HGNC	p.M192I		PHC2		SNV							ENST00000419414	protein_coding	getma.org/?cm=var&var=hg19,1,33836022,C,A&fts=all		hmmpanther:PTHR12247:SF71,hmmpanther:PTHR12247		M/I		A	medium	630/3870		getma.org/?cm=msa&ty=f&p=PHC2_HUMAN&rb=1&re=550&var=M192I	deleterious(0.01)				YES	PHC2,missense_variant,p.Met192Ile,ENST00000257118,NM_198040.2;PHC2,missense_variant,p.Met192Ile,ENST00000431992,;PHC2,missense_variant,p.Met192Ile,ENST00000419414,;PHC2,splice_region_variant,,ENST00000373416,;PHC2,splice_region_variant,,ENST00000468406,;PHC2,downstream_gene_variant,,ENST00000484692,;							MODERATE	576/2577	M192I	PHC2_HUMAN			Transcript		benign(0.24)	.	ENSP00000257118		CCDS378.1			1	
LIMK1	0	LGGM	GRCh37	7	73497460	73497460	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	12	3	.	.				ENST00000336180	NM_002314.3			0	1	1	UPI000013D678	0		ENST00000336180		ENSG00000106683	6613		15		810	HGNC	p.A32A		LIMK1		SNV			1				ENST00000418310	protein_coding							A		-/3219				Q75MU4_HUMAN			YES	LIMK1,synonymous_variant,p.=,ENST00000418310,;LIMK1,upstream_gene_variant,,ENST00000336180,NM_002314.3;LIMK1,upstream_gene_variant,,ENST00000435201,;							MODIFIER	-/1944		LIMK1_HUMAN			Transcript			.	ENSP00000336740		CCDS5563.1			1	
NPBWR1	0	LGGM	GRCh37	8	53852903	53852903	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	14	3	.	.	ENST00000331251.3:c.436C>A	p.Arg146=	p.R146=	ENST00000331251	NM_005285.3	146	Cgg/Agg	0	1	1	UPI000013EEF3	0		ENST00000331251		ENSG00000183729	4522		17			HGNC	p.R146R		NPBWR1		SNV							ENST00000331251	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF29,hmmpanther:PTHR24229,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01855		R		A		1913/2687				H9NIL7_HUMAN			YES	NPBWR1,synonymous_variant,p.=,ENST00000331251,NM_005285.3;							LOW	436/987		NPBW1_HUMAN			Transcript			.	ENSP00000330284		CCDS6151.1			1	
TXNRD2	0	LGGM	GRCh37	22	19906469	19906469	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	27	3	.	.	ENST00000400521.1:c.288G>T	p.Leu96=	p.L96=	ENST00000400521	NM_006440.3	96	ctG/ctT	0	1	1	UPI0000167BDD	0		ENST00000400521		ENSG00000184470	18155		30			HGNC	p.L96L		TXNRD2		SNV			1				ENST00000334363	protein_coding			hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF101,Gene3D:3.50.50.60,Pfam_domain:PF07992,TIGRFAM_domain:TIGR01438,Superfamily_domains:SSF51905,Prints_domain:PR00411		L		A		295/1933							YES	TXNRD2,synonymous_variant,p.=,ENST00000400519,;TXNRD2,synonymous_variant,p.=,ENST00000535882,;TXNRD2,synonymous_variant,p.=,ENST00000400518,;TXNRD2,synonymous_variant,p.=,ENST00000400521,NM_006440.3;TXNRD2,synonymous_variant,p.=,ENST00000334363,NM_001282512.1;TXNRD2,synonymous_variant,p.=,ENST00000542719,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000491939,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000474308,;TXNRD2,upstream_gene_variant,,ENST00000484672,;TXNRD2,synonymous_variant,p.=,ENST00000400525,;TXNRD2,non_coding_transcript_exon_variant,,ENST00000496729,;TXNRD2,upstream_gene_variant,,ENST00000494454,;TXNRD2,upstream_gene_variant,,ENST00000471835,;							LOW	288/1575		TRXR2_HUMAN			Transcript			.	ENSP00000383365		CCDS42981.1			1	
COX15	0	LGGM	GRCh37	10	101486767	101486767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	22	3	.	.	ENST00000016171.5:c.540G>T	p.Met180Ile	p.M180I	ENST00000016171		180	atG/atT	0	1	1	UPI000006E691	0	NA	ENST00000016171		ENSG00000014919	2263		25	1.87		HGNC	p.M180I		COX15		SNV			1				ENST00000370483	protein_coding	getma.org/?cm=var&var=hg19,10,101486767,C,A&fts=all		HAMAP:MF_01665,Pfam_domain:PF02628,hmmpanther:PTHR23289		M/I		A	low	591/2356		getma.org/?cm=msa&ty=f&p=COX15_HUMAN&rb=70&re=399&var=M180I	deleterious(0.04)	B4DQM2_HUMAN			YES	COX15,missense_variant,p.Met180Ile,ENST00000370483,NM_078470.4,NM_004376.5;COX15,missense_variant,p.Met180Ile,ENST00000016171,;CUTC,intron_variant,,ENST00000493385,;							MODERATE	540/1233	M180I	COX15_HUMAN			Transcript		benign(0.056)	.	ENSP00000016171		CCDS7482.1			1	
IFT81	0	LGGM	GRCh37	12	110618371	110618371	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	29	3	.	.	ENST00000242591.5:c.1333C>A	p.Gln445Lys	p.Q445K	ENST00000242591	NM_014055.3	445	Caa/Aaa	0	1	1	UPI000000D78F	0	NA	ENST00000242591		ENSG00000122970	14313		32	0.375		HGNC	p.Q445K		IFT81		SNV							ENST00000552912	protein_coding	getma.org/?cm=var&var=hg19,12,110618371,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15614:SF2,hmmpanther:PTHR15614		Q/K		A	neutral	1839/3108		getma.org/?cm=msa&ty=f&p=IFT81_HUMAN&rb=241&re=674&var=Q445K	tolerated(1)				YES	IFT81,missense_variant,p.Gln445Lys,ENST00000242591,NM_014055.3;IFT81,missense_variant,p.Gln445Lys,ENST00000552912,NM_001143779.1;IFT81,non_coding_transcript_exon_variant,,ENST00000551055,;IFT81,missense_variant,p.Gln415Lys,ENST00000550156,;							MODERATE	1333/2031	Q445K	IFT81_HUMAN			Transcript		benign(0.005)	.	ENSP00000242591		CCDS41831.1			1	
DAG1	0	LGGM	GRCh37	3	49569810	49569810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	47	3	.	.	ENST00000545947.1:c.1866C>A	p.Asp622Glu	p.D622E	ENST00000545947	NM_001177634.2	622	gaC/gaA	0	1		UPI000013EDAE	0	NA	ENST00000308775		ENSG00000173402	2666		50	1.775		HGNC	p.D622E		DAG1		SNV			1				ENST00000515359	protein_coding	getma.org/?cm=var&var=hg19,3,49569810,C,A&fts=all		Pfam_domain:PF05454,PROSITE_profiles:PS51699,hmmpanther:PTHR21559		D/E		A	low	2284/5518		getma.org/?cm=msa&ty=f&p=DAG1_HUMAN&rb=606&re=895&var=D622E	deleterious(0.03)	C9JYS1_HUMAN,C9JY76_HUMAN,C9JQL4_HUMAN,C9JEN1_HUMAN,C9JEH2_HUMAN,C9J6Z6_HUMAN,C9J196_HUMAN				DAG1,missense_variant,p.Asp622Glu,ENST00000545947,NM_001177634.2;DAG1,missense_variant,p.Asp622Glu,ENST00000541308,NM_001177638.2,NM_001177641.2,NM_001165928.3;DAG1,missense_variant,p.Asp622Glu,ENST00000539901,NM_001177644.2;DAG1,missense_variant,p.Asp622Glu,ENST00000538711,NM_001177642.2,NM_001177635.2,NM_001177640.2;DAG1,missense_variant,p.Asp622Glu,ENST00000515359,NM_001177643.2,NM_001177636.2,NM_001177637.2;DAG1,missense_variant,p.Asp622Glu,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,;							MODERATE	1866/2688	D622E	DAG1_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000312435		CCDS2799.1			1	
CYP27A1	0	LGGM	GRCh37	2	219678749	219678749	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	25	3	.	.	ENST00000258415.4:c.1023C>A	p.Ser341=	p.S341=	ENST00000258415	NM_000784.3	341	tcC/tcA	0	1	1	UPI00001281BD	0		ENST00000258415		ENSG00000135929	2605		28			HGNC	p.S341S		CYP27A1		SNV			1				ENST00000258415	protein_coding			hmmpanther:PTHR24291:SF6,hmmpanther:PTHR24291,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463		S		A		1450/2286				C9J1K5_HUMAN			YES	CYP27A1,synonymous_variant,p.=,ENST00000258415,NM_000784.3;CYP27A1,downstream_gene_variant,,ENST00000411688,;RP11-459I19.1,upstream_gene_variant,,ENST00000608881,;CYP27A1,3_prime_UTR_variant,,ENST00000445971,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000494263,;CYP27A1,non_coding_transcript_exon_variant,,ENST00000466602,;							LOW	1023/1596		CP27A_HUMAN			Transcript			.	ENSP00000258415		CCDS2423.1			1	
GCN1L1	0	LGGM	GRCh37	12	120582197	120582197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	3	.	.	ENST00000300648.6:c.5408G>T	p.Arg1803Leu	p.R1803L	ENST00000300648	NM_006836.1	1803	cGg/cTg	0	1	1	UPI00001FBC69	0	NA	ENST00000300648		ENSG00000089154	4199		13	0.58		HGNC	p.R1803L		GCN1L1		SNV							ENST00000300648	protein_coding	getma.org/?cm=var&var=hg19,12,120582197,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		R/L		A	neutral	5421/8675		getma.org/?cm=msa&ty=f&p=GCN1L_HUMAN&rb=1708&re=1907&var=R1803L		B4DM32_HUMAN			YES	GCN1L1,missense_variant,p.Arg1803Leu,ENST00000300648,NM_006836.1;							MODERATE	5408/8016	R1803L	GCN1L_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000300648		CCDS41847.1			1	
DMD	0	LGGM	GRCh37	X	32380981	32380981	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	23	3	.	.	ENST00000357033.4:c.5249G>T	p.Arg1750Met	p.R1750M	ENST00000357033	NM_004007.2	1750	aGg/aTg	0	1	1	UPI000049E111	0	NA	ENST00000357033		ENSG00000198947	2928		26	2.045		HGNC	p.R1750M		DMD		SNV			1				ENST00000357033	protein_coding	getma.org/?cm=var&var=hg19,X,32380981,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		R/M		A	medium	5456/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1679&re=1778&var=R1750M		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			YES	DMD,missense_variant,p.Arg1750Met,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Arg1746Met,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,downstream_gene_variant,,ENST00000420596,;DMD,downstream_gene_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;							MODERATE	5249/11058	R1750M				Transcript		possibly_damaging(0.702)	.	ENSP00000354923		CCDS14233.1			1	
OR3A3	0	LGGM	GRCh37	17	3324257	3324257	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	12	3	.	.	ENST00000291231.1:c.396C>A	p.Leu132=	p.L132=	ENST00000291231	NM_012373.2	132	ctC/ctA	0	1	1	UPI000013E033	0		ENST00000291231		ENSG00000159961	8284		15			HGNC	p.L132L		OR3A3		SNV							ENST00000291231	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF231,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		396/966							YES	OR3A3,synonymous_variant,p.=,ENST00000291231,NM_012373.2;							LOW	396/966		OR3A3_HUMAN			Transcript			.	ENSP00000291231		CCDS11025.1			1	
WDR26	0	LGGM	GRCh37	1	224619227	224619227	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	3	.	.	ENST00000414423.2:c.579G>T	p.Val193=	p.V193=	ENST00000414423	NM_001115113.2	193	gtG/gtT	0	1	1	UPI0000203FB7	0		ENST00000414423		ENSG00000162923	21208		36			HGNC	p.V193V		WDR26		SNV							ENST00000414423	protein_coding			SMART_domains:SM00668,hmmpanther:PTHR22838:SF0,hmmpanther:PTHR22838,PROSITE_profiles:PS50897		V		A		773/6872				C9JCS7_HUMAN			YES	WDR26,splice_region_variant,p.=,ENST00000366852,;WDR26,synonymous_variant,p.=,ENST00000414423,NM_001115113.2,NM_025160.6;WDR26,synonymous_variant,p.=,ENST00000295024,;WDR26,synonymous_variant,p.=,ENST00000445239,;WDR26,non_coding_transcript_exon_variant,,ENST00000477425,;CNIH3,upstream_gene_variant,,ENST00000483512,;CNIH3,upstream_gene_variant,,ENST00000471578,;CNIH3,upstream_gene_variant,,ENST00000498126,;WDR26,splice_region_variant,p.=,ENST00000486652,;WDR26,splice_region_variant,,ENST00000443112,;WDR26,non_coding_transcript_exon_variant,,ENST00000479778,;WDR26,non_coding_transcript_exon_variant,,ENST00000489825,;							LOW	579/1986		WDR26_HUMAN			Transcript			.	ENSP00000408108		CCDS31037.2			1	
SLC16A13	0	LGGM	GRCh37	17	6942206	6942206	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	24	3	.	.	ENST00000308027.6:c.1079C>A	p.Ser360Ter	p.S360*	ENST00000308027	NM_201566.2	360	tCa/tAa	0	1	1	UPI000015FA66	0	NA	ENST00000308027		ENSG00000174327	31037		27	0		HGNC	p.S360X		SLC16A13		SNV							ENST00000308027	protein_coding	getma.org/?cm=var&var=hg19,17,6942206,C,A&fts=all		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF19,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		S/*		A	NA	1387/1748		NA					YES	SLC16A13,stop_gained,p.Ser360Ter,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,;							HIGH	1079/1281	S360*	MOT13_HUMAN			Transcript			.	ENSP00000309751		CCDS11085.1			1	
CYP4F3	0	LGGM	GRCh37	19	15763690	15763690	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000221307.8:c.1043C>A	p.Pro348Gln	p.P348Q	ENST00000221307	NM_000896.2	348	cCg/cAg	0	1	1	UPI0000052BE3	0	getma.org/pdb.php?prot=CP4F3_HUMAN&from=52&to=515&var=P348Q	ENST00000221307		ENSG00000186529	2646		49	2.16		HGNC	p.P348Q		CYP4F3		SNV							ENST00000591058	protein_coding	getma.org/?cm=var&var=hg19,19,15763690,C,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,Prints_domain:PR00463,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF46,Superfamily_domains:SSF48264		P/Q		A	medium	1090/5050		getma.org/?cm=msa&ty=f&p=CP4F3_HUMAN&rb=52&re=515&var=P348Q	tolerated(0.05)	B7Z5A8_HUMAN			YES	CYP4F3,missense_variant,p.Pro348Gln,ENST00000221307,NM_000896.2;CYP4F3,missense_variant,p.Pro348Gln,ENST00000591058,NM_001199208.1;CYP4F3,missense_variant,p.Pro348Gln,ENST00000586182,NM_001199209.1;CYP4F3,missense_variant,p.Pro348Gln,ENST00000585846,;CYP4F3,3_prime_UTR_variant,,ENST00000592424,;CYP4F3,non_coding_transcript_exon_variant,,ENST00000592279,;CYP4F3,downstream_gene_variant,,ENST00000587360,;							MODERATE	1043/1563	P348Q	CP4F3_HUMAN			Transcript		possibly_damaging(0.635)	.	ENSP00000221307		CCDS12332.1			1	
DRG1	0	LGGM	GRCh37	22	31799138	31799138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000331457.4:c.290C>A	p.Thr97Asn	p.T97N	ENST00000331457	NM_004147.3	97	aCt/aAt	0	1	1	UPI0000129879	0	getma.org/pdb.php?prot=DRG1_HUMAN&from=66&to=249&var=T97N	ENST00000331457		ENSG00000185721	3029		31	4.135		HGNC	p.T97N		DRG1		SNV							ENST00000331457	protein_coding	getma.org/?cm=var&var=hg19,22,31799138,C,A&fts=all		PROSITE_profiles:PS51710,hmmpanther:PTHR11702,Pfam_domain:PF01926,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,Superfamily_domains:SSF52540,Prints_domain:PR00326		T/N		A	high	451/1746		getma.org/?cm=msa&ty=f&p=DRG1_HUMAN&rb=66&re=249&var=T97N	deleterious(0)	Q9UFA5_HUMAN			YES	DRG1,missense_variant,p.Thr97Asn,ENST00000331457,NM_004147.3;DRG1,non_coding_transcript_exon_variant,,ENST00000433341,;DRG1,non_coding_transcript_exon_variant,,ENST00000486584,;DRG1,intron_variant,,ENST00000416465,;							MODERATE	290/1104	T97N	DRG1_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000329715		CCDS13897.1			1	
OR10G8	0	LGGM	GRCh37	11	123901229	123901229	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	47	3	.	.	ENST00000431524.1:c.900G>C	p.Lys300Asn	p.K300N	ENST00000431524	NM_001004464.1	300	aaG/aaC	0	1	1	UPI0000040A8F	0	NA	ENST00000431524		ENSG00000234560	14845		50	1.13		HGNC	p.K300N		OR10G8		SNV							ENST00000431524	protein_coding	getma.org/?cm=var&var=hg19,11,123901229,G,C&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146		K/N		C	low	933/1045		getma.org/?cm=msa&ty=f&p=O10G8_HUMAN&rb=281&re=311&var=K300N	tolerated(0.07)				YES	OR10G8,missense_variant,p.Lys300Asn,ENST00000431524,NM_001004464.1;							MODERATE	900/936	K300N	O10G8_HUMAN			Transcript		benign(0.157)	.	ENSP00000389072		CCDS31704.1			1	
LAMA2	0	LGGM	GRCh37	6	129777503	129777503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	3	.	.	ENST00000421865.2:c.6731C>A	p.Ser2244Tyr	p.S2244Y	ENST00000421865	NM_001079823.1	2244	tCt/tAt	0	1	1	UPI00003673E0	0	getma.org/pdb.php?prot=LAMA2_HUMAN&from=2174&to=2314&var=S2244Y	ENST00000421865		ENSG00000196569	6482		36	1.545		HGNC	p.S2244Y		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129777503,C,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00282,Superfamily_domains:SSF49899		S/Y		A	low	6780/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=2174&re=2314&var=S2244Y	deleterious(0)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Ser2244Tyr,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	6731/9369	S2244Y	LAMA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000400365		CCDS5138.1			1	
UGT2A1	0	LGGM	GRCh37	4	70512737	70512737	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000503640.1:c.626G>T	p.Arg209Ile	p.R209I	ENST00000503640	NM_006798.3	209	aGa/aTa	0	1	1	UPI000013DE58	0	NA	ENST00000503640		ENSG00000173610	12542		44	3.87		HGNC	p.R209I	COSM1056995	UGT2A1		SNV						1	ENST00000512704	protein_coding	getma.org/?cm=var&var=hg19,4,70512737,C,A&fts=all		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF116,Superfamily_domains:SSF53756		R/I		A	high	682/2595		getma.org/?cm=msa&ty=f&p=UD2A1_HUMAN&rb=21&re=524&var=R209I	deleterious(0)	D6RHF3_HUMAN			YES	UGT2A1,missense_variant,p.Arg209Ile,ENST00000503640,NM_006798.3;UGT2A1,missense_variant,p.Arg209Ile,ENST00000512704,;UGT2A1,missense_variant,p.Arg209Ile,ENST00000514019,NM_001252274.1;UGT2A1,missense_variant,p.Arg209Ile,ENST00000286604,NM_001252275.1;UGT2A1,downstream_gene_variant,,ENST00000505512,;					1		MODERATE	626/1584	R209I	UD2A1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000424478		CCDS3529.1			1	
JAK1	0	LGGM	GRCh37	1	65344790	65344790	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000342505.4:c.247G>T	p.Glu83Ter	p.E83*	ENST00000342505	NM_002227.2	83	Gag/Tag	0	1	1	UPI0000054C7D	0	NA	ENST00000342505		ENSG00000162434	6190		49	0		HGNC	p.E83X		JAK1		SNV							ENST00000342505	protein_coding	getma.org/?cm=var&var=hg19,1,65344790,C,A&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,SMART_domains:SM00295,PIRSF_domain:PIRSF000636		E/*		A	NA	496/5047		NA					YES	JAK1,stop_gained,p.Glu83Ter,ENST00000342505,NM_002227.2;JAK1,upstream_gene_variant,,ENST00000467764,;							HIGH	247/3465	E83*	JAK1_HUMAN			Transcript			.	ENSP00000343204		CCDS41346.1			1	
MYCBP2	0	LGGM	GRCh37	13	77745753	77745753	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	45	3	.	.	ENST00000544440.2:c.5554G>T	p.Asp1852Tyr	p.D1852Y	ENST00000544440		1852	Gat/Tat	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		48	0.69		HGNC	p.D1852Y		MYCBP2		SNV							ENST00000544440	protein_coding	getma.org/?cm=var&var=hg19,13,77745753,C,A&fts=all		hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		D/Y		A	neutral	5647/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=1847&re=2046&var=D1852Y						MYCBP2,missense_variant,p.Asp1890Tyr,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Asp1852Tyr,ENST00000357337,;MYCBP2,missense_variant,p.Asp1852Tyr,ENST00000544440,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;							MODERATE	5554/13923	D1852Y	MYCB2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000349892					1	
CPPED1	0	LGGM	GRCh37	16	12798890	12798890	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	29	3	.	.	ENST00000381774.4:c.306G>T	p.Thr102=	p.T102=	ENST00000381774	NM_018340.2	102	acG/acT	0	1	1	UPI000013D1D1	0		ENST00000381774		ENSG00000103381	25632		32			HGNC	p.T102T		CPPED1		SNV							ENST00000381774	protein_coding			hmmpanther:PTHR22953,hmmpanther:PTHR22953:SF0,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300		T		A		547/3010							YES	CPPED1,synonymous_variant,p.=,ENST00000381774,NM_018340.2;CPPED1,intron_variant,,ENST00000433677,NM_001099455.1;CPPED1,intron_variant,,ENST00000261660,;							LOW	306/945		CPPED_HUMAN			Transcript			.	ENSP00000371193		CCDS42120.1			1	
RAB17	0	LGGM	GRCh37	2	238486768	238486768	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	27	3	.	.	ENST00000264601.3:c.188G>T	p.Gly63Val	p.G63V	ENST00000264601	NM_022449.3	63	gGt/gTt	0	1	1	UPI000006FCEB	0	getma.org/pdb.php?prot=RAB17_HUMAN&from=21&to=182&var=G63V	ENST00000264601		ENSG00000124839	16523		30	1.775		HGNC	p.G63V		RAB17		SNV							ENST00000264601	protein_coding	getma.org/?cm=var&var=hg19,2,238486768,C,A&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF137,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00176,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449		G/V		A	low	818/1966		getma.org/?cm=msa&ty=f&p=RAB17_HUMAN&rb=21&re=182&var=G63V	deleterious(0.01)	Q6PJZ0_HUMAN,F8WAG1_HUMAN			YES	RAB17,missense_variant,p.Gly63Val,ENST00000264601,NM_022449.3;RAB17,missense_variant,p.Gly41Val,ENST00000411462,;RAB17,missense_variant,p.Gly23Val,ENST00000430445,;RAB17,5_prime_UTR_variant,,ENST00000409822,;RAB17,intron_variant,,ENST00000538644,;RAB17,intron_variant,,ENST00000409576,;RAB17,synonymous_variant,p.=,ENST00000414278,;RAB17,non_coding_transcript_exon_variant,,ENST00000477149,;RAB17,intron_variant,,ENST00000392001,;RAB17,upstream_gene_variant,,ENST00000466244,;							MODERATE	188/639	G63V	RAB17_HUMAN			Transcript		possibly_damaging(0.882)	.	ENSP00000264601		CCDS2520.1			1	
CHRNA1	0	LGGM	GRCh37	2	175618424	175618424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	24	3	.	.	ENST00000261007.5:c.660G>T	p.Glu220Asp	p.E220D	ENST00000261007	NM_001039523.2	220	gaG/gaT	0	1	1	UPI000012524E	0	getma.org/pdb.php?prot=ACHA_HUMAN&from=97&to=256&var=E220D	ENST00000261007		ENSG00000138435	1955		27	3.165		HGNC	p.E220D		CHRNA1		SNV			1				ENST00000261007	protein_coding	getma.org/?cm=var&var=hg19,2,175618424,C,A&fts=all		hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932		E/D		A	medium	727/1980		getma.org/?cm=msa&ty=f&p=ACHA_HUMAN&rb=97&re=256&var=E220D	deleterious(0.01)	A9X444_HUMAN			YES	CHRNA1,missense_variant,p.Glu195Asp,ENST00000348749,NM_000079.3;CHRNA1,missense_variant,p.Glu220Asp,ENST00000261007,NM_001039523.2;CHRNA1,missense_variant,p.Glu195Asp,ENST00000409323,;CHRNA1,missense_variant,p.Glu195Asp,ENST00000409219,;CHRNA1,missense_variant,p.Glu113Asp,ENST00000409542,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,3_prime_UTR_variant,,ENST00000435083,;							MODERATE	660/1449	E220D	ACHA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261007		CCDS33331.1			1	
RASAL2	0	LGGM	GRCh37	1	178436479	178436479	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	3	.	.	ENST00000367649.3:c.3601G>T	p.Val1201Leu	p.V1201L	ENST00000367649		1201	Gtg/Ttg	0	1		UPI000012FFF1	0	NA	ENST00000462775		ENSG00000075391	9874		36	2.25		HGNC	p.V1190L		RASAL2		SNV							ENST00000448150	protein_coding	getma.org/?cm=var&var=hg19,1,178436479,G,T&fts=all		Pfam_domain:PF12004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF52		V/L		T	medium	3303/9156		getma.org/?cm=msa&ty=f&p=NGAP_HUMAN&rb=609&re=1110&var=V1060L	deleterious(0.01)					RASAL2,missense_variant,p.Val1190Leu,ENST00000448150,NM_170692.2;RASAL2,missense_variant,p.Val1060Leu,ENST00000462775,NM_004841.3;RASAL2,missense_variant,p.Val1201Leu,ENST00000367649,;RASAL2,missense_variant,p.Val611Leu,ENST00000433130,;							MODERATE	3178/3420	V1060L	NGAP_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000420558		CCDS1322.1			1	
DNAJC1	0	LGGM	GRCh37	10	22045655	22045655	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000376980.3:c.1626G>T	p.Leu542=	p.L542=	ENST00000376980	NM_022365.3	542	ctG/ctT	0	1	1	UPI0000049FEF	0		ENST00000376980		ENSG00000136770	20090		49			HGNC	p.L542L		DNAJC1		SNV							ENST00000376980	protein_coding			PROSITE_profiles:PS51293,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF130,Low_complexity_(Seg):seg,SMART_domains:SM00717,Superfamily_domains:SSF46689		L		A		1917/2106				Q96NY3_HUMAN			YES	DNAJC1,synonymous_variant,p.=,ENST00000376980,NM_022365.3;DNAJC1,downstream_gene_variant,,ENST00000483085,;							LOW	1626/1665		DNJC1_HUMAN			Transcript			.	ENSP00000366179		CCDS7136.1			1	
NCAPH	0	LGGM	GRCh37	2	97019072	97019072	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	18	3	.	.	ENST00000240423.4:c.939C>A	p.Arg313=	p.R313=	ENST00000240423	NM_001281711.1	313	cgC/cgA	0	1	1	UPI0000163F72	0		ENST00000240423		ENSG00000121152	1112		21			HGNC	p.R313R		NCAPH		SNV							ENST00000240423	protein_coding			hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126		R		A		982/2763				E9PHA2_HUMAN,B4E189_HUMAN			YES	NCAPH,synonymous_variant,p.=,ENST00000455200,;NCAPH,synonymous_variant,p.=,ENST00000240423,NM_001281711.1,NM_001281710.1,NM_015341.4;NCAPH,synonymous_variant,p.=,ENST00000427946,NM_001281712.1;NCAPH,synonymous_variant,p.=,ENST00000435975,;NCAPH,synonymous_variant,p.=,ENST00000456906,;NCAPH,non_coding_transcript_exon_variant,,ENST00000477409,;							LOW	939/2226		CND2_HUMAN			Transcript			.	ENSP00000240423		CCDS2021.1			1	
IKBKE	0	LGGM	GRCh37	1	206652376	206652376	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	37	3	.	.	ENST00000367120.3:c.1083C>A	p.Leu361=	p.L361=	ENST00000367120	NM_014002.3	361	ctC/ctA	0	1	1	UPI0000033727	0		ENST00000367120		ENSG00000143466	14552		40			HGNC	p.L361L		IKBKE		SNV							ENST00000367120	protein_coding			hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF10		L		A		1456/3269							YES	IKBKE,synonymous_variant,p.=,ENST00000367120,NM_014002.3,NM_001193322.1;IKBKE,synonymous_variant,p.=,ENST00000537984,NM_001193321.1;IKBKE,downstream_gene_variant,,ENST00000463979,;IKBKE,upstream_gene_variant,,ENST00000492570,;							LOW	1083/2151		IKKE_HUMAN			Transcript			.	ENSP00000356087		CCDS30996.1			1	
ZFPM1	0	LGGM	GRCh37	16	88598496	88598496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	23	3	.	.	ENST00000319555.3:c.799C>A	p.Arg267Ser	p.R267S	ENST00000319555	NM_153813.2	267	Cgc/Agc	0	1	1	UPI000049DE26	0	NA	ENST00000319555		ENSG00000179588	19762		26	1.1		HGNC	p.R267S		ZFPM1		SNV							ENST00000319555	protein_coding	getma.org/?cm=var&var=hg19,16,88598496,C,A&fts=all		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF4,Superfamily_domains:SSF57667		R/S		A	low	1121/5380		getma.org/?cm=msa&ty=f&p=FOG1_HUMAN&rb=267&re=305&var=R267S	deleterious(0)				YES	ZFPM1,missense_variant,p.Arg267Ser,ENST00000319555,NM_153813.2;RP11-21B21.4,upstream_gene_variant,,ENST00000563243,;							MODERATE	799/3021	R267S	FOG1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000326630		CCDS32502.1			1	
ZCCHC6	0	LGGM	GRCh37	9	88916375	88916375	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	34	3	.	.	ENST00000375963.3:c.4236G>T	p.Gln1412His	p.Q1412H	ENST00000375963	NM_001185059.1	1412	caG/caT	0	1	1	UPI00004588F6	0	NA	ENST00000375963		ENSG00000083223	25817		37	0.695		HGNC	p.Q1374H		ZCCHC6		SNV							ENST00000375961	protein_coding	getma.org/?cm=var&var=hg19,9,88916375,C,A&fts=all		hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF34		Q/H		A	neutral	4409/5379		getma.org/?cm=msa&ty=f&p=TUT7_HUMAN&rb=1363&re=1450&var=Q1412H	tolerated_low_confidence(0.55)				YES	ZCCHC6,missense_variant,p.Gln701His,ENST00000277141,;ZCCHC6,missense_variant,p.Gln1374His,ENST00000375961,;ZCCHC6,missense_variant,p.Gln1412His,ENST00000375963,NM_001185059.1,NM_024617.3;ZCCHC6,missense_variant,p.Gln1176His,ENST00000375960,NM_001185074.1;ZCCHC6,missense_variant,p.Gln312His,ENST00000375957,;							MODERATE	4236/4488	Q1412H	TUT7_HUMAN			Transcript		benign(0.003)	.	ENSP00000365130		CCDS35057.1			1	
PFDN2	0	LGGM	GRCh37	1	161071943	161071943	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	3	.	.	ENST00000368010.3:c.183G>T	p.Leu61=	p.L61=	ENST00000368010	NM_012394.3	61	ctG/ctT	0	1	1	UPI000000DBA5	0		ENST00000368010		ENSG00000143256	8867		38			HGNC	p.L61L		PFDN2		SNV							ENST00000368010	protein_coding			Gene3D:1.10.287.370,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01920,hmmpanther:PTHR13303,Superfamily_domains:SSF46579		L		A		268/677				B1AQP2_HUMAN			YES	PFDN2,synonymous_variant,p.=,ENST00000368010,NM_012394.3;KLHDC9,downstream_gene_variant,,ENST00000392192,NM_001007255.2;KLHDC9,downstream_gene_variant,,ENST00000368011,NM_152366.4;PFDN2,intron_variant,,ENST00000468311,;KLHDC9,downstream_gene_variant,,ENST00000490724,;KLHDC9,downstream_gene_variant,,ENST00000469647,;KLHDC9,downstream_gene_variant,,ENST00000392191,;KLHDC9,downstream_gene_variant,,ENST00000494418,;KLHDC9,downstream_gene_variant,,ENST00000471613,;KLHDC9,downstream_gene_variant,,ENST00000475934,;							LOW	183/465		PFD2_HUMAN			Transcript			.	ENSP00000356989		CCDS1217.1			1	
SLC39A9	0	LGGM	GRCh37	14	69925266	69925266	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	19	3	.	.	ENST00000336643.5:c.880G>T	p.Gly294Cys	p.G294C	ENST00000336643	NM_018375.4	294	Ggt/Tgt	0	1	1	UPI0000040C12	0	NA	ENST00000336643		ENSG00000029364	20182		22	3.18		HGNC	p.G294C		SLC39A9		SNV							ENST00000336643	protein_coding	getma.org/?cm=var&var=hg19,14,69925266,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR16133:SF2,hmmpanther:PTHR16133,Pfam_domain:PF02535		G/C		T	medium	1558/3560		getma.org/?cm=msa&ty=f&p=S39A9_HUMAN&rb=126&re=302&var=G294C	deleterious(0)	C4N9M8_HUMAN,B4DDK0_HUMAN			YES	SLC39A9,missense_variant,p.Gly228Cys,ENST00000031146,;SLC39A9,missense_variant,p.Gly294Cys,ENST00000336643,NM_018375.4;SLC39A9,missense_variant,p.Gly271Cys,ENST00000557046,NM_001252148.1;SLC39A9,intron_variant,,ENST00000556605,NM_001252150.1;SLC39A9,non_coding_transcript_exon_variant,,ENST00000555245,;SLC39A9,missense_variant,p.Gly294Cys,ENST00000555840,;SLC39A9,non_coding_transcript_exon_variant,,ENST00000538956,;SLC39A9,downstream_gene_variant,,ENST00000554023,;							MODERATE	880/924	G294C	S39A9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000336887		CCDS9795.1			1	
LIPI	0	LGGM	GRCh37	21	15537701	15537701	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	40	3	.	.	ENST00000344577.2:c.807C>A	p.Phe269Leu	p.F269L	ENST00000344577	NM_198996.2	269	ttC/ttA	0	1	1	UPI000015F82D	0	getma.org/pdb.php?prot=LIPI_HUMAN&from=8&to=334&var=F248L	ENST00000344577		ENSG00000188992	18821		43	1.63		HGNC	p.F248L	COSM1728702	LIPI		SNV			1			1	ENST00000536861	protein_coding	getma.org/?cm=var&var=hg19,21,15537701,G,T&fts=all		hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474		F/L		T	low	833/1652		getma.org/?cm=msa&ty=f&p=LIPI_HUMAN&rb=8&re=334&var=F248L	deleterious(0)				YES	LIPI,missense_variant,p.Phe269Leu,ENST00000344577,NM_198996.2;LIPI,missense_variant,p.Phe248Leu,ENST00000536861,;LIPI,missense_variant,p.Phe98Leu,ENST00000400211,;					1		MODERATE	807/1446	F248L	LIPI_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000343331		CCDS13564.1			1	
ZNF324	0	LGGM	GRCh37	19	58982701	58982701	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	3	.	.	ENST00000536459.2:c.842G>T	p.Gly281Val	p.G281V	ENST00000536459		281	gGg/gTg	0	1		UPI000013C359	0	getma.org/pdb.php?prot=Z324A_HUMAN&from=271&to=296&var=G281V	ENST00000196482		ENSG00000083812	14096		24	2.125		HGNC	p.G281V		ZNF324		SNV							ENST00000536459	protein_coding	getma.org/?cm=var&var=hg19,19,58982701,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		G/V		T	medium	936/3000		getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=251&re=316&var=G281V	deleterious(0)	F5H1K2_HUMAN				ZNF324,missense_variant,p.Gly281Val,ENST00000536459,;ZNF324,missense_variant,p.Gly281Val,ENST00000196482,NM_014347.2;ZNF324,missense_variant,p.Gly58Val,ENST00000535298,;ZNF324,missense_variant,p.Gly140Val,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.2;ZNF446,upstream_gene_variant,,ENST00000600013,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000594468,;							MODERATE	842/1662	G281V	Z324A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000196482		CCDS12981.1			1	
PLEKHA4	0	LGGM	GRCh37	19	49368854	49368854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	3	.	.	ENST00000263265.6:c.98C>A	p.Ala33Glu	p.A33E	ENST00000263265	NM_020904.2	33	gCa/gAa	0	1	1	UPI00000721A6	0	NA	ENST00000263265		ENSG00000105559	14339		24	1.67		HGNC	p.A33E		PLEKHA4		SNV							ENST00000355496	protein_coding	getma.org/?cm=var&var=hg19,19,49368854,G,T&fts=all		hmmpanther:PTHR12752,Superfamily_domains:SSF50729		A/E		T	low	654/3088		getma.org/?cm=msa&ty=f&p=PKHA4_HUMAN&rb=1&re=54&var=A33E	deleterious(0)	M0R2K5_HUMAN,M0QXJ3_HUMAN			YES	PLEKHA4,missense_variant,p.Ala33Glu,ENST00000263265,NM_020904.2;PLEKHA4,missense_variant,p.Ala33Glu,ENST00000355496,NM_001161354.1;PLEKHA4,intron_variant,,ENST00000594100,;PLEKHA4,upstream_gene_variant,,ENST00000596982,;							MODERATE	98/2340	A33E	PKHA4_HUMAN			Transcript		possibly_damaging(0.611)	.	ENSP00000263265		CCDS12737.1			1	
ITIH4	0	LGGM	GRCh37	3	52863207	52863207	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	40	3	.	.	ENST00000266041.4:c.179G>T	p.Arg60Met	p.R60M	ENST00000266041	NM_002218.4	60	aGg/aTg	0	1	1	UPI000013D6C3	0	NA	ENST00000266041		ENSG00000055955	6169		43	2.14		HGNC	p.R60M		ITIH4		SNV							ENST00000346281	protein_coding	getma.org/?cm=var&var=hg19,3,52863207,C,A&fts=all		Pfam_domain:PF08487,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98,SMART_domains:SM00609		R/M		A	medium	276/3336		getma.org/?cm=msa&ty=f&p=ITIH4_HUMAN&rb=31&re=148&var=R60M	deleterious(0)				YES	ITIH4,missense_variant,p.Arg60Met,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.Arg60Met,ENST00000346281,NM_001166449.1;ITIH4,missense_variant,p.Arg60Met,ENST00000485816,;ITIH4,missense_variant,p.Arg60Met,ENST00000406595,;ITIH4,intron_variant,,ENST00000434759,;ITIH4,upstream_gene_variant,,ENST00000441637,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000504329,NM_001198974.2;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000514466,;MUSTN1,downstream_gene_variant,,ENST00000446157,NM_205853.3;MUSTN1,downstream_gene_variant,,ENST00000486659,;ITIH4-AS1,downstream_gene_variant,,ENST00000478366,;RP5-966M1.6,downstream_gene_variant,,ENST00000513520,;RP5-966M1.6,3_prime_UTR_variant,,ENST00000468472,;ITIH4,non_coding_transcript_exon_variant,,ENST00000491663,;ITIH4,intron_variant,,ENST00000537897,;TMEM110-MUSTN1,downstream_gene_variant,,ENST00000495552,;ITIH4,downstream_gene_variant,,ENST00000473904,;ITIH4,upstream_gene_variant,,ENST00000483372,;							MODERATE	179/2793	R60M	ITIH4_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000266041		CCDS2865.1			1	
STC2	0	LGGM	GRCh37	5	172750351	172750351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	30	3	.	.	ENST00000265087.4:c.377C>A	p.Pro126Gln	p.P126Q	ENST00000265087	NM_003714.2	126	cCg/cAg	0	1	1	UPI00001360B8	0	NA	ENST00000265087		ENSG00000113739	11374		33	1.39		HGNC	p.P126Q		STC2		SNV							ENST00000265087	protein_coding	getma.org/?cm=var&var=hg19,5,172750351,G,T&fts=all		Pfam_domain:PF03298,hmmpanther:PTHR11245,hmmpanther:PTHR11245:SF2		P/Q		T	low	1687/5353		getma.org/?cm=msa&ty=f&p=STC2_HUMAN&rb=6&re=220&var=P126Q	tolerated(0.33)	Q6FHC9_HUMAN,E5RG57_HUMAN,B3KNF2_HUMAN			YES	STC2,missense_variant,p.Pro126Gln,ENST00000265087,NM_003714.2;STC2,missense_variant,p.Pro80Gln,ENST00000520648,;STC2,missense_variant,p.Pro41Gln,ENST00000518455,;STC2,non_coding_transcript_exon_variant,,ENST00000520593,;STC2,downstream_gene_variant,,ENST00000519511,;							MODERATE	377/909	P126Q	STC2_HUMAN			Transcript		benign(0.294)	.	ENSP00000265087		CCDS4388.1			1	
DAB2IP	0	LGGM	GRCh37	9	124522501	124522501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000259371.2:c.869C>A	p.Pro290His	p.P290H	ENST00000259371	NM_032552.2	290	cCc/cAc	0	1		UPI0000E44499	0	getma.org/pdb.php?prot=DAB2P_HUMAN&from=296&to=391&var=P318H	ENST00000408936		ENSG00000136848	17294		31	1.575		HGNC	p.P290H		DAB2IP		SNV							ENST00000394340	protein_coding	getma.org/?cm=var&var=hg19,9,124522501,C,A&fts=all		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF26,Low_complexity_(Seg):seg,Superfamily_domains:SSF49562		P/H		A	low	1135/6784		getma.org/?cm=msa&ty=f&p=DAB2P_HUMAN&rb=296&re=391&var=P318H	deleterious(0.03)	F6R503_HUMAN				DAB2IP,missense_variant,p.Pro318His,ENST00000408936,;DAB2IP,missense_variant,p.Pro290His,ENST00000259371,NM_032552.2;DAB2IP,missense_variant,p.Pro227His,ENST00000373782,;DAB2IP,missense_variant,p.Pro194His,ENST00000309989,NM_138709.1;DAB2IP,missense_variant,p.Pro290His,ENST00000394340,;DAB2IP,missense_variant,p.Pro194His,ENST00000436835,;DAB2IP,downstream_gene_variant,,ENST00000487716,;DAB2IP,upstream_gene_variant,,ENST00000459906,;							MODERATE	953/3570	P318H	DAB2P_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000386183					1	
TRAV20	0	LGGM	GRCh37	14	22509165	22509165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	22	3	.	.	ENST00000390448.3:c.103C>A	p.Gln35Lys	p.Q35K	ENST00000390448		35	Cag/Aag	0	1	1	UPI000011D123	0		ENST00000390448		ENSG00000211800	12117		25			HGNC	p.Q35K		TRAV20		SNV							ENST00000390448	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19433:SF56,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		Q/K		A		172/406			tolerated(0.08)				YES	TRAV20,missense_variant,p.Gln35Lys,ENST00000390448,;							MODERATE	103/337					Transcript		probably_damaging(0.931)	.	ENSP00000452067					1	
WDR72	0	LGGM	GRCh37	15	53957813	53957813	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	40	3	.	.	ENST00000396328.1:c.1918G>T	p.Gly640Trp	p.G640W	ENST00000396328	NM_182758.3	640	Ggg/Tgg	0	1		UPI00001D777D	0	NA	ENST00000360509		ENSG00000166415	26790		43	1.04		HGNC	p.G640W		WDR72		SNV			1				ENST00000360509	protein_coding	getma.org/?cm=var&var=hg19,15,53957813,C,A&fts=all		hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18		G/W		A	low	1960/5887		getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=586&re=785&var=G640W	deleterious(0.01)	H0YN02_HUMAN				WDR72,missense_variant,p.Gly640Trp,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Gly637Trp,ENST00000557913,;WDR72,missense_variant,p.Gly640Trp,ENST00000360509,;WDR72,missense_variant,p.Gly650Trp,ENST00000559418,;WDR72,missense_variant,p.Gly640Trp,ENST00000560036,;WDR72,downstream_gene_variant,,ENST00000567575,;							MODERATE	1918/3309	G640W	WDR72_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353699		CCDS10151.1			1	
FBXW11	0	LGGM	GRCh37	5	171303520	171303520	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000265094.5:c.927G>T	p.Thr309=	p.T309=	ENST00000265094	NM_012300.2	309	acG/acT	0	1	1	UPI000012ADB8	0		ENST00000265094		ENSG00000072803	13607		44			HGNC	p.T309T		FBXW11		SNV							ENST00000265094	protein_coding			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF123,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082		T		A		1065/4342							YES	FBXW11,synonymous_variant,p.=,ENST00000296933,NM_033645.2,NM_033644.2;FBXW11,synonymous_variant,p.=,ENST00000265094,NM_012300.2;FBXW11,synonymous_variant,p.=,ENST00000393802,;FBXW11,synonymous_variant,p.=,ENST00000425623,;FBXW11,non_coding_transcript_exon_variant,,ENST00000522891,;FBXW11,upstream_gene_variant,,ENST00000522376,;FBXW11,3_prime_UTR_variant,,ENST00000523843,;							LOW	927/1629		FBW1B_HUMAN			Transcript			.	ENSP00000265094		CCDS34289.1			1	
GCC2	0	LGGM	GRCh37	2	109111834	109111834	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	3	.	.	ENST00000309863.6:c.4535G>T	p.Arg1512Leu	p.R1512L	ENST00000309863	NM_181453.3	1512	cGg/cTg	0	1	1	UPI000049DF0C	0	NA	ENST00000309863		ENSG00000135968	23218		38	2.19		HGNC	p.R1512L		GCC2		SNV							ENST00000309863	protein_coding	getma.org/?cm=var&var=hg19,2,109111834,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23		R/L		T	medium	5249/7537		getma.org/?cm=msa&ty=f&p=GCC2_HUMAN&rb=1471&re=1611&var=R1512L	deleterious(0)	B8ZZW2_HUMAN,B3KR21_HUMAN			YES	GCC2,missense_variant,p.Arg1512Leu,ENST00000309863,NM_181453.3;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,non_coding_transcript_exon_variant,,ENST00000480863,;							MODERATE	4535/5055	R1512L	GCC2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000307939		CCDS33268.1			1	
DNAJC22	0	LGGM	GRCh37	12	49745187	49745187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	27	3	.	.	ENST00000549441.2:c.928C>A	p.Leu310Met	p.L310M	ENST00000549441		310	Ctg/Atg	0	1		UPI000006D2CC	0	getma.org/pdb.php?prot=DJC22_HUMAN&from=278&to=336&var=L310M	ENST00000395069		ENSG00000178401	25802		30	0.48		HGNC	p.L310M	COSM1299468,COSM1299467	DNAJC22		SNV						1,1	ENST00000549441	protein_coding	getma.org/?cm=var&var=hg19,12,49745187,C,A&fts=all		Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24076,SMART_domains:SM00271,Superfamily_domains:SSF46565		L/M		A	neutral	1549/2059		getma.org/?cm=msa&ty=f&p=DJC22_HUMAN&rb=278&re=336&var=L310M	deleterious(0.05)					DNAJC22,missense_variant,p.Leu310Met,ENST00000549441,;DNAJC22,missense_variant,p.Leu310Met,ENST00000395069,NM_024902.2;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,non_coding_transcript_exon_variant,,ENST00000551153,;					1,1		MODERATE	928/1026	L310M	DJC22_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000378508		CCDS8785.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102478389	102478389	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	42	3	.	.	ENST00000360184.4:c.6796G>T	p.Gly2266Ter	p.G2266*	ENST00000360184	NM_001376.4	2266	Gga/Tga	0	1	1	UPI00001B515A	0	NA	ENST00000360184		ENSG00000197102	2961		45	0		HGNC	p.G2266X		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102478389,G,T&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF07728,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		G/*		T	NA	6960/14333		NA		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,stop_gained,p.Gly2266Ter,ENST00000360184,NM_001376.4;							HIGH	6796/13941	G2266*	DYHC1_HUMAN			Transcript			.	ENSP00000348965		CCDS9966.1			1	
TKTL2	0	LGGM	GRCh37	4	164394606	164394606	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000280605.3:c.281G>T	p.Ser94Ile	p.S94I	ENST00000280605	NM_032136.4	94	aGt/aTt	0	1	1	UPI0000037C67	0	getma.org/pdb.php?prot=TKTL2_HUMAN&from=15&to=291&var=S94I	ENST00000280605		ENSG00000151005	25313		31	2.855		HGNC	p.S94I		TKTL2		SNV							ENST00000280605	protein_coding	getma.org/?cm=var&var=hg19,4,164394606,C,A&fts=all		hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Gene3D:3.40.50.970,Pfam_domain:PF00456,Superfamily_domains:SSF52518		S/I		A	medium	442/2791		getma.org/?cm=msa&ty=f&p=TKTL2_HUMAN&rb=15&re=291&var=S94I	tolerated(0.07)	Q96LZ0_HUMAN,Q8ND81_HUMAN			YES	TKTL2,missense_variant,p.Ser94Ile,ENST00000280605,NM_032136.4;							MODERATE	281/1881	S94I	TKTL2_HUMAN			Transcript		benign(0.155)	.	ENSP00000280605		CCDS3805.1			1	
KIAA0196	0	LGGM	GRCh37	8	126071464	126071464	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	38	3	.	.	ENST00000318410.7:c.1764G>T	p.Lys588Asn	p.K588N	ENST00000318410	NM_014846.3	588	aaG/aaT	0	1	1	UPI000013943B	0	NA	ENST00000318410		ENSG00000164961	28984		41	2.92		HGNC	p.K440N		KIAA0196		SNV			1				ENST00000517845	protein_coding	getma.org/?cm=var&var=hg19,8,126071464,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15691,Pfam_domain:PF10266		K/N		A	medium	2114/4187		getma.org/?cm=msa&ty=f&p=STRUM_HUMAN&rb=23&re=1103&var=K588N	deleterious(0)	Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN			YES	KIAA0196,missense_variant,p.Lys588Asn,ENST00000318410,NM_014846.3;KIAA0196,missense_variant,p.Lys440Asn,ENST00000517845,;							MODERATE	1764/3480	K588N	STRUM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318016		CCDS6355.1			1	
GNB1L	0	LGGM	GRCh37	22	19789634	19789634	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	19	3	.	.	ENST00000329517.6:c.622G>T	p.Glu208Ter	p.E208*	ENST00000329517	NM_053004.2	208	Gag/Tag	0	1	1	UPI00000474FA	0	NA	ENST00000329517		ENSG00000185838	4397		22	0		HGNC	p.E208X		GNB1L		SNV							ENST00000405009	protein_coding	getma.org/?cm=var&var=hg19,22,19789634,C,A&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR19854,PROSITE_profiles:PS50294		E/*		A	NA	859/6706		NA					YES	GNB1L,stop_gained,p.Glu208Ter,ENST00000329517,NM_053004.2;GNB1L,stop_gained,p.Glu208Ter,ENST00000403325,;GNB1L,stop_gained,p.Glu208Ter,ENST00000405009,;GNB1L,non_coding_transcript_exon_variant,,ENST00000460402,;GNB1L,non_coding_transcript_exon_variant,,ENST00000481086,;							HIGH	622/984	E208*	GNB1L_HUMAN			Transcript			.	ENSP00000331313		CCDS13768.1			1	
MAZ	0	LGGM	GRCh37	16	29818892	29818892	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	18	3	.	.	ENST00000219782.6:c.786C>A	p.Ala262=	p.A262=	ENST00000219782	NM_001042539.2	262	gcC/gcA	0	1		UPI000012ECF8	0		ENST00000322945		ENSG00000103495	6914		21			HGNC	p.A262A	rs773615145	MAZ		SNV							ENST00000322945	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF422		A		A		951/2532	1.87E-05			Q9UJ31_HUMAN,H3BPU3_HUMAN				MAZ,synonymous_variant,p.=,ENST00000219782,NM_001042539.2;MAZ,synonymous_variant,p.=,ENST00000322945,NM_002383.3;MAZ,synonymous_variant,p.=,ENST00000545521,NM_001276275.1;MAZ,synonymous_variant,p.=,ENST00000567444,;MAZ,intron_variant,,ENST00000562337,NM_001276276.1;MAZ,intron_variant,,ENST00000563402,;MAZ,intron_variant,,ENST00000566906,;PRRT2,upstream_gene_variant,,ENST00000300797,;PRRT2,upstream_gene_variant,,ENST00000358758,NM_001256442.1,NM_001256443.1,NM_145239.2;KIF22,downstream_gene_variant,,ENST00000561482,NM_001256270.1;KIF22,downstream_gene_variant,,ENST00000400751,;KIF22,downstream_gene_variant,,ENST00000160827,NM_001256269.1,NM_007317.2;KIF22,downstream_gene_variant,,ENST00000569382,;KIF22,downstream_gene_variant,,ENST00000400750,;MAZ,upstream_gene_variant,,ENST00000568282,;PRRT2,upstream_gene_variant,,ENST00000567659,;MAZ,upstream_gene_variant,,ENST00000568544,;MAZ,upstream_gene_variant,,ENST00000563012,;MAZ,upstream_gene_variant,,ENST00000568411,;PRRT2,upstream_gene_variant,,ENST00000572820,;MAZ,upstream_gene_variant,,ENST00000569978,;PRRT2,upstream_gene_variant,,ENST00000562148,;MAZ,upstream_gene_variant,,ENST00000562557,;MAZ,upstream_gene_variant,,ENST00000562594,;AC009133.15,non_coding_transcript_exon_variant,,ENST00000566537,;AC009133.14,downstream_gene_variant,,ENST00000569981,;AC009133.20,downstream_gene_variant,,ENST00000569039,;AC009133.14,downstream_gene_variant,,ENST00000563806,;PRRT2,upstream_gene_variant,,ENST00000567551,;MAZ,upstream_gene_variant,,ENST00000568516,;MAZ,intron_variant,,ENST00000561855,;KIF22,downstream_gene_variant,,ENST00000565736,;MAZ,upstream_gene_variant,,ENST00000565777,;KIF22,downstream_gene_variant,,ENST00000568312,;							LOW	786/1434		MAZ_HUMAN			Transcript			.	ENSP00000313362	8.36E-06	CCDS42143.1			1	
POU2AF2	0	LGGM	GRCh37	11	111156695	111156695	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	3	.	.	ENST00000280325.4:c.627C>A	p.Thr209=	p.T209=	ENST00000280325	NM_198498.1	209	acC/acA	0	1	1	UPI0000074367	0		ENST00000280325		ENSG00000150750	30527		47			HGNC	p.T209T		C11orf53		SNV							ENST00000280325	protein_coding					T		A		774/1205							YES	C11orf53,synonymous_variant,p.=,ENST00000280325,NM_198498.1;							LOW	627/711		CK053_HUMAN			Transcript			.	ENSP00000280325		CCDS31674.1			1	
CNTN2	0	LGGM	GRCh37	1	205027087	205027087	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	3	.	.	ENST00000331830.4:c.109C>A	p.Pro37Thr	p.P37T	ENST00000331830	NM_005076.3	37	Cct/Act	0	1	1	UPI00001266A5	0	getma.org/pdb.php?prot=CNTN2_HUMAN&from=36&to=129&var=P37T	ENST00000331830		ENSG00000184144	2172		24	4.005		HGNC	p.P37T		CNTN2		SNV			1				ENST00000331830	protein_coding	getma.org/?cm=var&var=hg19,1,205027087,C,A&fts=all		Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50		P/T		A	high	393/8141		getma.org/?cm=msa&ty=f&p=CNTN2_HUMAN&rb=36&re=129&var=P37T	deleterious(0)				YES	CNTN2,missense_variant,p.Pro37Thr,ENST00000331830,NM_005076.3;AL583832.1,upstream_gene_variant,,ENST00000515887,;CNTN2,non_coding_transcript_exon_variant,,ENST00000532366,;CNTN2,upstream_gene_variant,,ENST00000481872,;CNTN2,upstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000527340,;							MODERATE	109/3123	P37T	CNTN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330633		CCDS1449.1			1	
KATNA1	0	LGGM	GRCh37	6	149944310	149944310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	3	.	.	ENST00000367411.2:c.430G>T	p.Val144Phe	p.V144F	ENST00000367411	NM_007044.3	144	Gtt/Ttt	0	1		UPI0000071D68	0	NA	ENST00000335647		ENSG00000186625	6216		36	0.345		HGNC	p.V144F		KATNA1		SNV							ENST00000444282	protein_coding	getma.org/?cm=var&var=hg19,6,149944310,C,A&fts=all		HAMAP:MF_03023,hmmpanther:PTHR23074:SF71,hmmpanther:PTHR23074		V/F		A	neutral	475/1684		getma.org/?cm=msa&ty=f&p=KTNA1_HUMAN&rb=77&re=244&var=V144F	tolerated(0.06)	B7ZBC9_HUMAN,B7ZBC8_HUMAN				KATNA1,missense_variant,p.Val144Phe,ENST00000367411,NM_007044.3;KATNA1,missense_variant,p.Val144Phe,ENST00000335647,;KATNA1,missense_variant,p.Val144Phe,ENST00000335643,NM_001204076.1;KATNA1,missense_variant,p.Val144Phe,ENST00000444282,;KATNA1,missense_variant,p.Val144Phe,ENST00000420200,;KATNA1,non_coding_transcript_exon_variant,,ENST00000470620,;KATNA1,upstream_gene_variant,,ENST00000494504,;							MODERATE	430/1476	V144F	KTNA1_HUMAN			Transcript		benign(0.014)	.	ENSP00000335106		CCDS5217.1			1	
SLC16A7	0	LGGM	GRCh37	12	60168676	60168676	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	43	3	.	.	ENST00000261187.4:c.600C>A	p.Pro200=	p.P200=	ENST00000261187	NM_004731.4	200	ccC/ccA	0	1	1	UPI00000722FD	0		ENST00000261187		ENSG00000118596	10928		46			HGNC	p.P101P		SLC16A7		SNV							ENST00000543448	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF25,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892		P		A		764/4536				F8W0N3_HUMAN,F8VS95_HUMAN,F5H843_HUMAN			YES	SLC16A7,synonymous_variant,p.=,ENST00000261187,NM_004731.4;SLC16A7,synonymous_variant,p.=,ENST00000552432,NM_001270623.1,NM_001270622.1;SLC16A7,synonymous_variant,p.=,ENST00000547379,;SLC16A7,synonymous_variant,p.=,ENST00000543448,;SLC16A7,synonymous_variant,p.=,ENST00000552024,;SLC16A7,synonymous_variant,p.=,ENST00000548610,;SLC16A7,synonymous_variant,p.=,ENST00000548444,;SLC16A7,3_prime_UTR_variant,,ENST00000549033,;SLC16A7,3_prime_UTR_variant,,ENST00000549928,;							LOW	600/1437		MOT2_HUMAN			Transcript			.	ENSP00000261187		CCDS8961.1			1	
SLC9A5	0	LGGM	GRCh37	16	67304732	67304732	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	40	3	.	.	ENST00000299798.11:c.2310C>A	p.Asp770Glu	p.D770E	ENST00000299798	NM_004594.2	770	gaC/gaA	0	1	1	UPI000012FD2D	0	NA	ENST00000299798		ENSG00000135740	11078		43	0.46		HGNC	p.D770E		SLC9A5		SNV							ENST00000299798	protein_coding	getma.org/?cm=var&var=hg19,16,67304732,C,A&fts=all		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF56		D/E		A	neutral	2375/3736		getma.org/?cm=msa&ty=f&p=SL9A5_HUMAN&rb=656&re=855&var=D770E	tolerated(0.1)				YES	SLC9A5,missense_variant,p.Asp770Glu,ENST00000299798,NM_004594.2;SLC9A5,missense_variant,p.Asp223Glu,ENST00000566626,;SLC9A5,3_prime_UTR_variant,,ENST00000564812,;SLC9A5,non_coding_transcript_exon_variant,,ENST00000564704,;SLC9A5,non_coding_transcript_exon_variant,,ENST00000563723,;							MODERATE	2310/2691	D770E	SL9A5_HUMAN			Transcript		benign(0.005)	.	ENSP00000299798		CCDS42178.1			1	
PXDN	0	LGGM	GRCh37	2	1652614	1652614	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	7	3	.	.	ENST00000252804.4:c.2938G>T	p.Glu980Ter	p.E980*	ENST00000252804	NM_012293.1	980	Gag/Tag	0	1	1	UPI00001C1DC2	0	NA	ENST00000252804		ENSG00000130508	14966		10	0		HGNC	p.E980X		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1652614,C,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457		E/*		A	NA	2989/6808		NA					YES	PXDN,stop_gained,p.Glu980Ter,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;							HIGH	2938/4440	E980*	PXDN_HUMAN			Transcript			.	ENSP00000252804		CCDS46221.1			1	
HMG20A	0	LGGM	GRCh37	15	77770813	77770813	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	17	3	.	.	ENST00000381714.3:c.868C>A	p.Gln290Lys	p.Q290K	ENST00000381714	NM_018200.2	290	Cag/Aag	0	1		UPI00000737EF	0	NA	ENST00000336216		ENSG00000140382	5001		20	1.7		HGNC	p.Q290K		HMG20A		SNV							ENST00000381714	protein_coding	getma.org/?cm=var&var=hg19,15,77770813,C,A&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF158		Q/K		A	low	1226/4046		getma.org/?cm=msa&ty=f&p=HM20A_HUMAN&rb=172&re=347&var=Q290K	tolerated(0.12)	H0YNS8_HUMAN,H0YMS9_HUMAN,H0YM80_HUMAN,H0YKM5_HUMAN,H0YK55_HUMAN,B4DMG1_HUMAN				HMG20A,missense_variant,p.Gln290Lys,ENST00000381714,NM_018200.2;HMG20A,missense_variant,p.Gln290Lys,ENST00000336216,;HMG20A,missense_variant,p.Gln61Lys,ENST00000558845,;HMG20A,non_coding_transcript_exon_variant,,ENST00000559728,;HMG20A,upstream_gene_variant,,ENST00000558288,;							MODERATE	868/1044	Q290K	HM20A_HUMAN			Transcript		benign(0.048)	.	ENSP00000336856		CCDS10295.1			1	
CEBPA	0	LGGM	GRCh37	19	33792292	33792292	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	20	3	.	.	ENST00000498907.2:c.1029C>A	p.Arg343=	p.R343=	ENST00000498907	NM_004364.3	343	cgC/cgA	0	1	1	UPI0000167F92	0		ENST00000498907		ENSG00000245848	1833		23			HGNC	p.R343R		CEBPA		SNV			1				ENST00000498907	protein_coding			Gene3D:1.20.5.170,PIRSF_domain:PIRSF005879,PROSITE_profiles:PS50217,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF5,SMART_domains:SM00338,Superfamily_domains:SSF57959		R		T		1179/2631				Q6P3S4_HUMAN			YES	CEBPA,synonymous_variant,p.=,ENST00000498907,NM_004364.3,NM_001285829.1,NM_001287435.1,NM_001287424.1;CTD-2540B15.9,upstream_gene_variant,,ENST00000593041,;CTD-2540B15.7,non_coding_transcript_exon_variant,,ENST00000587312,;CEBPA-AS1,upstream_gene_variant,,ENST00000592982,;CTD-2540B15.11,downstream_gene_variant,,ENST00000589932,;AC008738.1,non_coding_transcript_exon_variant,,ENST00000425420,;CEBPA-AS1,upstream_gene_variant,,ENST00000320232,;							LOW	1029/1077		CEBPA_HUMAN			Transcript			.	ENSP00000427514		CCDS54243.1			1	
CLN6	0	LGGM	GRCh37	15	68500615	68500615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	45	3	.	.	ENST00000249806.5:c.799G>T	p.Ala267Ser	p.A267S	ENST00000249806	NM_017882.2	267	Gca/Tca	0	1	1	UPI000006D91F	0	NA	ENST00000249806		ENSG00000128973	2077		48	0.145		HGNC	p.A299S		CLN6		SNV			1				ENST00000538696	protein_coding	getma.org/?cm=var&var=hg19,15,68500615,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16244,Pfam_domain:PF15156		A/S		A	neutral	957/2242		getma.org/?cm=msa&ty=f&p=CLN6_HUMAN&rb=1&re=309&var=A267S	tolerated(0.63)				YES	CLN6,missense_variant,p.Ala267Ser,ENST00000249806,NM_017882.2;CLN6,missense_variant,p.Ala299Ser,ENST00000538696,;CLN6,missense_variant,p.Ala114Ser,ENST00000565471,;CLN6,missense_variant,p.Ala204Ser,ENST00000566347,;CLN6,missense_variant,p.Ala138Ser,ENST00000418702,;RP11-315D16.2,intron_variant,,ENST00000562767,;CALML4,upstream_gene_variant,,ENST00000395465,;CALML4,upstream_gene_variant,,ENST00000448060,NM_001031733.2;CALML4,upstream_gene_variant,,ENST00000540479,NM_001286694.1;CALML4,upstream_gene_variant,,ENST00000467889,NM_033429.2;CLN6,downstream_gene_variant,,ENST00000564752,;CLN6,3_prime_UTR_variant,,ENST00000567060,;CALML4,upstream_gene_variant,,ENST00000478113,NM_001286695.1;CLN6,downstream_gene_variant,,ENST00000564846,;CALML4,upstream_gene_variant,,ENST00000395463,;CLN6,downstream_gene_variant,,ENST00000563917,;							MODERATE	799/936	A267S	CLN6_HUMAN			Transcript		benign(0.003)	.	ENSP00000249806		CCDS10227.1			1	
EML6	0	LGGM	GRCh37	2	55043949	55043949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	24	3	.	.	ENST00000356458.6:c.383C>A	p.Ala128Asp	p.A128D	ENST00000356458	NM_001039753.2	128	gCc/gAc	0	1	1	UPI00006C0432	0	NA	ENST00000356458		ENSG00000214595	35412		27	-0.4		HGNC	p.A128D		EML6		SNV							ENST00000356458	protein_coding	getma.org/?cm=var&var=hg19,2,55043949,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,SMART_domains:SM00320,Superfamily_domains:SSF50998		A/D		A	neutral	903/8320		getma.org/?cm=msa&ty=f&p=EMAL6_HUMAN&rb=102&re=136&var=A128D	tolerated(0.84)				YES	EML6,missense_variant,p.Ala128Asp,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000491655,;							MODERATE	383/5877	A128D	EMAL6_HUMAN			Transcript		benign(0.006)	.	ENSP00000348842		CCDS46286.1			1	
NRD1	0	LGGM	GRCh37	1	52301822	52301822	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	27	3	.	.	ENST00000354831.7:c.897G>C	p.Leu299=	p.L299=	ENST00000354831	NM_002525.2	299	ctG/ctC	0	1	1	UPI0000458A53	0		ENST00000354831		ENSG00000078618	7995		30			HGNC	p.L99L		NRD1		SNV							ENST00000544028	protein_coding			hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,PROSITE_patterns:PS00143,Pfam_domain:PF00675,Gene3D:3.30.830.10,Superfamily_domains:SSF63411		L		G		1087/3895				G3V1R5_HUMAN,B1AKJ5_HUMAN			YES	NRD1,synonymous_variant,p.=,ENST00000354831,NM_002525.2;NRD1,synonymous_variant,p.=,ENST00000352171,NM_001101662.1;NRD1,synonymous_variant,p.=,ENST00000539524,NM_001242361.1;NRD1,synonymous_variant,p.=,ENST00000544028,;MIR761,downstream_gene_variant,,ENST00000390787,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,non_coding_transcript_exon_variant,,ENST00000475715,;NRD1,downstream_gene_variant,,ENST00000491410,;NRD1,upstream_gene_variant,,ENST00000473805,;							LOW	897/3660					Transcript			.	ENSP00000346890		CCDS559.1			1	
ABCA2	0	LGGM	GRCh37	9	139910792	139910792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	16	3	.	.	ENST00000341511.6:c.3055C>A	p.Gln1019Lys	p.Q1019K	ENST00000341511	NM_212533.2	1019	Cag/Aag	0	1	1	UPI00015E02DC	0	getma.org/pdb.php?prot=ABCA2_HUMAN&from=990&to=1221&var=Q1018K	ENST00000341511		ENSG00000107331	32		19	1.02		HGNC	p.Q366K		ABCA2		SNV							ENST00000488535	protein_coding	getma.org/?cm=var&var=hg19,9,139910792,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF116,PROSITE_profiles:PS50893		Q/K		T	low	3105/8056		getma.org/?cm=msa&ty=f&p=ABCA2_HUMAN&rb=990&re=1221&var=Q1018K	deleterious(0)	Q9UPU0_HUMAN,B4DI99_HUMAN			YES	ABCA2,missense_variant,p.Gln1019Lys,ENST00000265662,;ABCA2,missense_variant,p.Gln1018Lys,ENST00000371605,;ABCA2,missense_variant,p.Gln1019Lys,ENST00000341511,NM_212533.2,NM_001606.4;ABCA2,downstream_gene_variant,,ENST00000470535,;ABCA2,downstream_gene_variant,,ENST00000492260,;ABCA2,downstream_gene_variant,,ENST00000466707,;ABCA2,downstream_gene_variant,,ENST00000467624,;ABCA2,missense_variant,p.Gln1048Lys,ENST00000459850,;ABCA2,missense_variant,p.Gln369Lys,ENST00000479446,;ABCA2,missense_variant,p.Gln366Lys,ENST00000488535,;ABCA2,3_prime_UTR_variant,,ENST00000487109,;ABCA2,downstream_gene_variant,,ENST00000464876,;ABCA2,downstream_gene_variant,,ENST00000494046,;ABCA2,upstream_gene_variant,,ENST00000431584,;							MODERATE	3055/7311	Q1018K	ABCA2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000344155		CCDS43909.1			1	
KCTD9	0	LGGM	GRCh37	8	25290924	25290924	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	3	.	.	ENST00000221200.4:c.841C>A	p.Leu281Ile	p.L281I	ENST00000221200	NM_017634.3	281	Ctc/Atc	0	1	1	UPI00001540AF	0	NA	ENST00000221200		ENSG00000104756	22401		36	0.875		HGNC	p.L281I		KCTD9		SNV							ENST00000221200	protein_coding	getma.org/?cm=var&var=hg19,8,25290924,G,T&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR14958,Superfamily_domains:SSF141571		L/I		T	low	1062/3398		getma.org/?cm=msa&ty=f&p=KCTD9_HUMAN&rb=258&re=297&var=L281I	tolerated(0.26)	K7ENB5_HUMAN			YES	KCTD9,missense_variant,p.Leu281Ile,ENST00000221200,NM_017634.3;KCTD9,downstream_gene_variant,,ENST00000522493,;KCTD9,3_prime_UTR_variant,,ENST00000519665,;KCTD9,downstream_gene_variant,,ENST00000523140,;							MODERATE	841/1170	L281I	KCTD9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000221200		CCDS6048.1			1	
KIAA1958	0	LGGM	GRCh37	9	115421602	115421602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	36	3	.	.	ENST00000337530.6:c.1404C>A	p.Ser468Arg	p.S468R	ENST00000337530	NM_001287038.1	468	agC/agA	0	1	1	UPI000007327E	0	NA	ENST00000337530		ENSG00000165185	23427		39	0		HGNC	p.S496R		KIAA1958		SNV							ENST00000536272	protein_coding	getma.org/?cm=var&var=hg19,9,115421602,C,A&fts=all		hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF98		S/R		A	neutral	1700/11775		getma.org/?cm=msa&ty=f&p=K1958_HUMAN&rb=350&re=528&var=S468R	tolerated(0.64)				YES	KIAA1958,missense_variant,p.Ser468Arg,ENST00000337530,NM_001287038.1,NM_133465.3;KIAA1958,missense_variant,p.Ser496Arg,ENST00000536272,NM_001287036.1;							MODERATE	1404/2151	S468R	K1958_HUMAN			Transcript		benign(0.028)	.	ENSP00000336940		CCDS35108.1			1	
TP53I3	0	LGGM	GRCh37	2	24300602	24300602	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	47	3	.	.	ENST00000238721.4:c.846G>T	p.Thr282=	p.T282=	ENST00000238721	NM_004881.4	282	acG/acT	0	1	1	UPI000006D860	0		ENST00000238721		ENSG00000115129	19373		50			HGNC	p.G217X		TP53I3		SNV							ENST00000313482	protein_coding			hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF28,TIGRFAM_domain:TIGR02824,SMART_domains:SM00829,Superfamily_domains:SSF51735		T		A		1701/1998							YES	TP53I3,stop_gained,p.Gly217Ter,ENST00000313482,;TP53I3,stop_gained,p.Gly217Ter,ENST00000407482,NM_001206802.2;TP53I3,synonymous_variant,p.=,ENST00000238721,NM_004881.4;TP53I3,synonymous_variant,p.=,ENST00000335934,NM_147184.3;SF3B14,upstream_gene_variant,,ENST00000233468,NM_016047.3;TP53I3,downstream_gene_variant,,ENST00000413037,;FAM228B,intron_variant,,ENST00000461972,;FAM228B,intron_variant,,ENST00000469867,;FAM228B,intron_variant,,ENST00000468799,;FAM228B,intron_variant,,ENST00000486967,;TP53I3,downstream_gene_variant,,ENST00000417886,;FAM228B,upstream_gene_variant,,ENST00000460686,;SF3B14,upstream_gene_variant,,ENST00000478050,;							LOW	846/999		QORX_HUMAN			Transcript			.	ENSP00000238721		CCDS1708.1			1	
MYH7	0	LGGM	GRCh37	14	23888698	23888698	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	37	3	.	.	ENST00000355349.3:c.3847G>T	p.Glu1283Ter	p.E1283*	ENST00000355349	NM_000257.2	1283	Gag/Tag	0	1	1	UPI000014019B	0	NA	ENST00000355349		ENSG00000092054	7577		40	0		HGNC	p.E1283X		MYH7		SNV			1				ENST00000355349	protein_coding	getma.org/?cm=var&var=hg19,14,23888698,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279,Superfamily_domains:SSF90257		E/*		A	NA	4010/6087		NA		Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,stop_gained,p.Glu1283Ter,ENST00000355349,NM_000257.2;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;							HIGH	3847/5808	E1283*	MYH7_HUMAN			Transcript			.	ENSP00000347507		CCDS9601.1			1	
ZAN	0	LGGM	GRCh37	7	100395048	100395048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000546292.1:c.8051C>A	p.Ala2684Asp	p.A2684D	ENST00000546292	NM_173059.1	2684	gCc/gAc	0	1	1	UPI00004575C6	0		ENST00000546292		ENSG00000146839	12857		49			HGNC	p.A1148D		ZAN		SNV							ENST00000546213	protein_coding			Transmembrane_helices:TMhelix		A/D		A		8199/8375				F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Ala2684Asp,ENST00000546292,NM_173059.1;ZAN,missense_variant,p.Ala1148Asp,ENST00000546213,;ZAN,3_prime_UTR_variant,,ENST00000542585,NM_003386.1;ZAN,3_prime_UTR_variant,,ENST00000538115,;ZAN,missense_variant,p.Pro2776Thr,ENST00000349350,;ZAN,missense_variant,p.Pro2685Thr,ENST00000348028,;ZAN,3_prime_UTR_variant,,ENST00000427578,;ZAN,3_prime_UTR_variant,,ENST00000449052,;ZAN,3_prime_UTR_variant,,ENST00000443370,;ZAN,3_prime_UTR_variant,,ENST00000421100,;							MODERATE	8051/8163					Transcript		unknown(0)	.	ENSP00000445943					1	
TTN	0	LGGM	GRCh37	2	179611358	179611358	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	46	3	.	.	ENST00000589042.1:c.11312-4710G>T		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	getma.org/pdb.php?prot=Q8N237_HUMAN&from=464&to=553&var=A538S	ENST00000591111		ENSG00000155657	12403		49	3.685		HGNC	p.A5257S		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179611358,C,A&fts=all						A	high	-/104301		getma.org/?cm=msa&ty=f&p=Q8N237_HUMAN&rb=464&re=553&var=A538S		C9JQJ2_HUMAN				TTN,missense_variant,p.Ala5257Ser,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,;							MODIFIER	-/103053	A538S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SEC16A	0	LGGM	GRCh37	9	139342799	139342799	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	14	3	.	.	ENST00000313050.7:c.6313-186G>T		*2105*	ENST00000313050	NM_014866.1			0	1	1	UPI0000F0888B	0		ENST00000313050		ENSG00000148396	29006		17			HGNC	p.C78F		SEC16A		SNV							ENST00000313084	protein_coding							A		-/8806				J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Cys78Phe,ENST00000398335,;SEC16A,missense_variant,p.Cys78Phe,ENST00000313084,;SEC16A,intron_variant,,ENST00000313050,NM_014866.1;SEC16A,intron_variant,,ENST00000371706,NM_001276418.1;SEC16A,intron_variant,,ENST00000290037,;SEC16A,intron_variant,,ENST00000431893,;SEC16A,intron_variant,,ENST00000453963,;SEC16A,intron_variant,,ENST00000277537,;SEC16A,upstream_gene_variant,,ENST00000467838,;							MODIFIER	-/7074					Transcript			.	ENSP00000325827		CCDS55351.1			1	
CNTN2	0	LGGM	GRCh37	1	205036376	205036376	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	31	3	.	.	ENST00000331830.4:c.2123C>A	p.Ala708Glu	p.A708E	ENST00000331830	NM_005076.3	708	gCa/gAa	0	1	1	UPI00001266A5	0	getma.org/pdb.php?prot=CNTN2_HUMAN&from=698&to=711&var=A708E	ENST00000331830		ENSG00000184144	2172		34	1.52		HGNC	p.A708E		CNTN2		SNV			1				ENST00000331830	protein_coding	getma.org/?cm=var&var=hg19,1,205036376,C,A&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,PROSITE_profiles:PS50853,Low_complexity_(Seg):seg		A/E		A	low	2407/8141		getma.org/?cm=msa&ty=f&p=CNTN2_HUMAN&rb=668&re=741&var=A708E	deleterious(0.02)				YES	CNTN2,missense_variant,p.Ala708Glu,ENST00000331830,NM_005076.3;AL583832.1,downstream_gene_variant,,ENST00000515887,;CNTN2,splice_region_variant,,ENST00000481872,;CNTN2,downstream_gene_variant,,ENST00000530117,;CNTN2,upstream_gene_variant,,ENST00000525433,;CNTN2,downstream_gene_variant,,ENST00000527340,;CNTN2,downstream_gene_variant,,ENST00000530594,;							MODERATE	2123/3123	A708E	CNTN2_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000330633		CCDS1449.1			1	
KMT2C	0	LGGM	GRCh37	7	151921662	151921662	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	26	3	.	.	ENST00000262189.6:c.3016G>T	p.Glu1006Ter	p.E1006*	ENST00000262189	NM_170606.2	1006	Gag/Tag	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		29	0		HGNC	p.E1006X		KMT2C		SNV							ENST00000355193	protein_coding	getma.org/?cm=var&var=hg19,7,151921662,C,A&fts=all		PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305,Gene3D:3.30.40.10,SMART_domains:SM00184,SMART_domains:SM00249,Superfamily_domains:SSF57903,Superfamily_domains:SSF57903		E/*		A	NA	3235/16862		NA		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,stop_gained,p.Glu1006Ter,ENST00000355193,;KMT2C,stop_gained,p.Glu1006Ter,ENST00000262189,NM_170606.2;KMT2C,stop_gained,p.Glu162Ter,ENST00000418673,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;KMT2C,upstream_gene_variant,,ENST00000489110,;							HIGH	3016/14736	E1006*	KMT2C_HUMAN			Transcript			.	ENSP00000262189		CCDS5931.1			1	
PTPRN	0	LGGM	GRCh37	2	220167420	220167420	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	14	3	.	.	ENST00000295718.2:c.517C>A	p.Leu173Met	p.L173M	ENST00000295718	NM_002846.3	173	Ctg/Atg	0	1	1	UPI0000132999	0	NA	ENST00000295718		ENSG00000054356	9676		17	1.39		HGNC	p.L83M		PTPRN		SNV							ENST00000442029	protein_coding	getma.org/?cm=var&var=hg19,2,220167420,G,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF2,Low_complexity_(Seg):seg		L/M		T	low	758/3784		getma.org/?cm=msa&ty=f&p=PTPRN_HUMAN&rb=1&re=200&var=L173M	tolerated(0.14)	Q96IA0_HUMAN,Q7KZS4_HUMAN,C9JJL7_HUMAN,C9JCQ0_HUMAN,C9J392_HUMAN			YES	PTPRN,missense_variant,p.Leu173Met,ENST00000295718,NM_002846.3;PTPRN,missense_variant,p.Leu173Met,ENST00000409251,NM_001199763.1;PTPRN,missense_variant,p.Leu83Met,ENST00000423636,NM_001199764.1;PTPRN,missense_variant,p.Leu83Met,ENST00000446182,;PTPRN,missense_variant,p.Leu140Met,ENST00000440552,;PTPRN,missense_variant,p.Leu83Met,ENST00000412847,;PTPRN,missense_variant,p.Leu83Met,ENST00000442029,;PTPRN,downstream_gene_variant,,ENST00000451506,;AC114803.3,intron_variant,,ENST00000417355,;PTPRN,downstream_gene_variant,,ENST00000468454,;PTPRN,non_coding_transcript_exon_variant,,ENST00000462351,;PTPRN,non_coding_transcript_exon_variant,,ENST00000476930,;PTPRN,downstream_gene_variant,,ENST00000606213,;PTPRN,downstream_gene_variant,,ENST00000477819,;PTPRN,upstream_gene_variant,,ENST00000489650,;PTPRN,upstream_gene_variant,,ENST00000486480,;PTPRN,downstream_gene_variant,,ENST00000484986,;							MODERATE	517/2940	L173M	PTPRN_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000295718		CCDS2440.1			1	
GARIN4	0	LGGM	GRCh37	1	212799815	212799815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	38	3	.	.	ENST00000294829.3:c.1596C>A	p.Asn532Lys	p.N532K	ENST00000294829	NM_153606.3	532	aaC/aaA	0	1	1	UPI000013E1C2	0	NA	ENST00000294829		ENSG00000162771	26541		41	2.095		HGNC	p.N532K		FAM71A		SNV							ENST00000294829	protein_coding	getma.org/?cm=var&var=hg19,1,212799815,C,A&fts=all		hmmpanther:PTHR22574:SF9,hmmpanther:PTHR22574		N/K		A	medium	2027/2332		getma.org/?cm=msa&ty=f&p=FA71A_HUMAN&rb=441&re=592&var=N532K	deleterious(0.01)				YES	FAM71A,missense_variant,p.Asn532Lys,ENST00000294829,NM_153606.3;RP11-338C15.5,non_coding_transcript_exon_variant,,ENST00000427949,;							MODERATE	1596/1785	N532K	FA71A_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000294829		CCDS1507.1			1	
VPS26A	0	LGGM	GRCh37	10	70916775	70916775	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	25	3	.	.	ENST00000373382.1:c.242A>G	p.Asp81Gly	p.D81G	ENST00000373382		81	gAc/gGc	0	1		UPI0000138BC6	0	getma.org/pdb.php?prot=VP26A_HUMAN&from=8&to=283&var=D81G	ENST00000263559		ENSG00000122958	12711		28	2.785		HGNC	p.D81G		VPS26A		SNV							ENST00000263559	protein_coding	getma.org/?cm=var&var=hg19,10,70916775,A,G&fts=all		Pfam_domain:PF03643,hmmpanther:PTHR12233,hmmpanther:PTHR12233:SF4		D/G		G	medium	368/2697		getma.org/?cm=msa&ty=f&p=VP26A_HUMAN&rb=8&re=283&var=D81G	deleterious(0.03)	G3V1N8_HUMAN				VPS26A,missense_variant,p.Asp81Gly,ENST00000373382,;VPS26A,missense_variant,p.Asp81Gly,ENST00000263559,NM_004896.3;VPS26A,missense_variant,p.Asp81Gly,ENST00000395098,NM_001035260.1;VPS26A,missense_variant,p.Asp64Gly,ENST00000546041,;VPS26A,missense_variant,p.Asp56Gly,ENST00000489794,;VPS26A,5_prime_UTR_variant,,ENST00000541711,;VPS26A,non_coding_transcript_exon_variant,,ENST00000490696,;VPS26A,non_coding_transcript_exon_variant,,ENST00000497564,;VPS26A,intron_variant,,ENST00000467852,;VPS26A,missense_variant,p.Thr56Ala,ENST00000489656,;RP11-259F16.3,downstream_gene_variant,,ENST00000438591,;							MODERATE	242/984	D81G	VP26A_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000263559		CCDS7286.1			1	
XPO1	0	LGGM	GRCh37	2	61719796	61719796	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000401558.2:c.1472G>T	p.Trp491Leu	p.W491L	ENST00000401558	NM_003400.3	491	tGg/tTg	0	1	1	UPI0000001C23	0	getma.org/pdb.php?prot=XPO1_HUMAN&from=469&to=668&var=W491L	ENST00000401558		ENSG00000082898	12825		44	3.265		HGNC	p.W491L		XPO1		SNV							ENST00000406957	protein_coding	getma.org/?cm=var&var=hg19,2,61719796,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR11223,Superfamily_domains:SSF48371		W/L		A	medium	2200/4915		getma.org/?cm=msa&ty=f&p=XPO1_HUMAN&rb=469&re=668&var=W491L	deleterious(0)	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN			YES	XPO1,missense_variant,p.Trp491Leu,ENST00000401558,NM_003400.3;XPO1,missense_variant,p.Trp491Leu,ENST00000404992,;XPO1,missense_variant,p.Trp491Leu,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,non_coding_transcript_exon_variant,,ENST00000469337,;XPO1,upstream_gene_variant,,ENST00000461407,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,downstream_gene_variant,,ENST00000475744,;							MODERATE	1472/3216	W491L	XPO1_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000384863		CCDS33205.1			1	
FBXW11	0	LGGM	GRCh37	5	171299951	171299951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	3	.	.	ENST00000265094.5:c.1202G>T	p.Gly401Val	p.G401V	ENST00000265094	NM_012300.2	401	gGg/gTg	0	1	1	UPI000012ADB8	0	getma.org/pdb.php?prot=FBW1B_HUMAN&from=393&to=429&var=G401V	ENST00000265094		ENSG00000072803	13607		47	3.59		HGNC	p.G401V		FBXW11		SNV							ENST00000265094	protein_coding	getma.org/?cm=var&var=hg19,5,171299951,C,A&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF123,hmmpanther:PTHR22844,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082		G/V		A	high	1340/4342		getma.org/?cm=msa&ty=f&p=FBW1B_HUMAN&rb=393&re=429&var=G401V	deleterious(0)				YES	FBXW11,missense_variant,p.Gly388Val,ENST00000296933,NM_033645.2,NM_033644.2;FBXW11,missense_variant,p.Gly401Val,ENST00000265094,NM_012300.2;FBXW11,missense_variant,p.Gly367Val,ENST00000393802,;FBXW11,missense_variant,p.Gly369Val,ENST00000425623,;FBXW11,non_coding_transcript_exon_variant,,ENST00000522376,;FBXW11,downstream_gene_variant,,ENST00000522891,;FBXW11,upstream_gene_variant,,ENST00000518106,;FBXW11,3_prime_UTR_variant,,ENST00000523843,;							MODERATE	1202/1629	G401V	FBW1B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265094		CCDS34289.1			1	
ANKRD11	0	LGGM	GRCh37	16	89348104	89348104	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	38	3	.	.	ENST00000301030.4:c.4846G>T	p.Gly1616Ter	p.G1616*	ENST00000301030	NM_001256183.1	1616	Gga/Tga	0	1	1	UPI00004569E1	0	NA	ENST00000301030		ENSG00000167522	21316		41	0		HGNC	p.G1616X		ANKRD11		SNV			1				ENST00000378330	protein_coding	getma.org/?cm=var&var=hg19,16,89348104,C,A&fts=all		hmmpanther:PTHR24145		G/*		A	NA	5307/9301		NA					YES	ANKRD11,stop_gained,p.Gly1616Ter,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,stop_gained,p.Gly1616Ter,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							HIGH	4846/7992	G1616*	ANR11_HUMAN			Transcript			.	ENSP00000301030		CCDS32513.1			1	
CYB5B	0	LGGM	GRCh37	16	69458661	69458661	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000307892.8:c.75C>A	p.Thr25=	p.T25=	ENST00000307892	NM_030579.2	25	acC/acA	0	1		UPI0000071530	0		ENST00000512062		ENSG00000103018	24374		31			HGNC	p.T21T		CYB5B		SNV							ENST00000561792	protein_coding			PROSITE_profiles:PS50255,hmmpanther:PTHR19359:SF16,hmmpanther:PTHR19359,Gene3D:3.10.120.10,Superfamily_domains:SSF55856		T		A		234/4358				Q5HYD9_HUMAN				CYB5B,synonymous_variant,p.=,ENST00000512062,;CYB5B,synonymous_variant,p.=,ENST00000307892,NM_030579.2;CYB5B,synonymous_variant,p.=,ENST00000515314,;CYB5B,synonymous_variant,p.=,ENST00000561792,;CYB5B,upstream_gene_variant,,ENST00000568237,;CYB5B,non_coding_transcript_exon_variant,,ENST00000514123,;CYB5B,upstream_gene_variant,,ENST00000568342,;							LOW	63/441		CYB5B_HUMAN			Transcript			.	ENSP00000423679					1	
TTC40	0	LGGM	GRCh37	10	134680911	134680911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	15	3	.	.	ENST00000368586.5:c.4711G>T	p.Gly1571Trp	p.G1571W	ENST00000368586	NM_001200049.2	1571	Ggg/Tgg	0	1	1	UPI0001B79116	0		ENST00000368586		ENSG00000171811	25247		18			HGNC	p.G1571W		TTC40		SNV							ENST00000368586	protein_coding			hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977		G/W		A		4812/8278			deleterious(0.01)				YES	TTC40,missense_variant,p.Gly1571Trp,ENST00000368586,NM_001200049.2;							MODERATE	4711/8148		TTC40_HUMAN			Transcript		possibly_damaging(0.614)	.	ENSP00000357575		CCDS58101.1			1	
GLIS3	0	LGGM	GRCh37	9	4117953	4117953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	3	.	.	ENST00000381971.3:c.1525G>T	p.Ala509Ser	p.A509S	ENST00000381971	NM_001042413.1	509	Gcc/Tcc	0	1		UPI00003675FE	0	NA	ENST00000324333		ENSG00000107249	28510		47	1.695		HGNC	p.A509S		GLIS3		SNV			1				ENST00000381971	protein_coding	getma.org/?cm=var&var=hg19,9,4117953,C,A&fts=all		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		A/S		A	low	1254/6667		getma.org/?cm=msa&ty=f&p=GLIS3_HUMAN&rb=325&re=390&var=A354S	deleterious(0.02)	Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,missense_variant,p.Ala354Ser,ENST00000324333,NM_152629.3;GLIS3,missense_variant,p.Ala509Ser,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,;							MODERATE	1060/2328	A354S	GLIS3_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000325494		CCDS6451.1			1	
SCN5A	0	LGGM	GRCh37	3	38651257	38651257	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000413689.1:c.902G>T	p.Trp301Leu	p.W301L	ENST00000413689	NM_001160160.1	301	tGg/tTg	0	1		UPI00001D6F27	0	NA	ENST00000333535		ENSG00000183873	10593		44	1.78		HGNC	p.W301L		SCN5A		SNV			1				ENST00000449557	protein_coding	getma.org/?cm=var&var=hg19,3,38651257,C,A&fts=all		Pfam_domain:PF00520,Prints_domain:PR01666,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178		W/L		A	low	1052/8456		getma.org/?cm=msa&ty=f&p=SCN5A_HUMAN&rb=159&re=412&var=W301L	tolerated(0.06)	Q8WWN5_HUMAN,Q8WTQ6_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN				SCN5A,missense_variant,p.Trp301Leu,ENST00000413689,NM_001160160.1,NM_001099404.1;SCN5A,missense_variant,p.Trp301Leu,ENST00000443581,NM_000335.4,NM_198056.2;SCN5A,missense_variant,p.Trp301Leu,ENST00000333535,;SCN5A,missense_variant,p.Trp301Leu,ENST00000425664,NM_001099405.1;SCN5A,missense_variant,p.Trp301Leu,ENST00000423572,;SCN5A,missense_variant,p.Trp301Leu,ENST00000451551,NM_001160161.1;SCN5A,missense_variant,p.Trp301Leu,ENST00000414099,;SCN5A,missense_variant,p.Trp301Leu,ENST00000455624,;SCN5A,missense_variant,p.Trp301Leu,ENST00000450102,;SCN5A,missense_variant,p.Trp301Leu,ENST00000449557,;SCN5A,downstream_gene_variant,,ENST00000491944,;							MODERATE	902/6051	W301L	SCN5A_HUMAN			Transcript		benign(0.277)	.	ENSP00000328968		CCDS46796.1			1	
CD160	0	LGGM	GRCh37	1	145704312	145704312	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	3	.	.	ENST00000235933.6:c.105G>T	p.Gln35His	p.Q35H	ENST00000235933		35	caG/caT	0	1	1	UPI0000126B8D	0	NA	ENST00000235933		ENSG00000117281	17013		38	0.805		HGNC	p.Q35H		CD160		SNV							ENST00000235933	protein_coding	getma.org/?cm=var&var=hg19,1,145704312,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR15425,hmmpanther:PTHR15425:SF0,Superfamily_domains:SSF48726		Q/H		A	low	208/1444		getma.org/?cm=msa&ty=f&p=BY55_HUMAN&rb=1&re=179&var=Q35H	tolerated(0.06)	Q6FH89_HUMAN			YES	CD160,missense_variant,p.Gln35His,ENST00000235933,;CD160,missense_variant,p.Gln35His,ENST00000369288,NM_007053.3;CD160,missense_variant,p.Gln35His,ENST00000401557,;CD160,intron_variant,,ENST00000369290,;							MODERATE	105/546	Q35H	BY55_HUMAN			Transcript		benign(0.077)	.	ENSP00000235933		CCDS923.1			1	
C4orf19	0	LGGM	GRCh37	4	37592196	37592196	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000284437.6:c.519C>A	p.Ala173=	p.A173=	ENST00000284437	NM_018302.2	173	gcC/gcA	0	1	1	UPI00000742D7	0		ENST00000284437		ENSG00000154274	25618		44			HGNC	p.A173A		C4orf19		SNV							ENST00000381980	protein_coding			hmmpanther:PTHR16106		A		A		697/1949							YES	C4orf19,synonymous_variant,p.=,ENST00000284437,NM_018302.2;C4orf19,synonymous_variant,p.=,ENST00000381980,NM_001104629.1;C4orf19,intron_variant,,ENST00000508175,;RELL1,downstream_gene_variant,,ENST00000314117,NM_001085399.1;RP11-36B15.1,upstream_gene_variant,,ENST00000503034,;							LOW	519/945		CD019_HUMAN			Transcript			.	ENSP00000284437		CCDS3442.1			1	
LYZL4	0	LGGM	GRCh37	3	42448692	42448692	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	31	3	.	.	ENST00000287748.3:c.52G>T	p.Gly18Cys	p.G18C	ENST00000287748	NM_144634.2	18	Ggt/Tgt	0	1	1	UPI000000D78B	0	NA	ENST00000287748		ENSG00000157093	28387		34	1.78		HGNC	p.G18C		LYZL4		SNV							ENST00000441172	protein_coding	getma.org/?cm=var&var=hg19,3,42448692,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11407:SF21,hmmpanther:PTHR11407		G/C		A	low	328/904		getma.org/?cm=msa&ty=f&p=LYZL4_HUMAN&rb=1&re=49&var=G18C	deleterious(0.02)				YES	LYZL4,missense_variant,p.Gly18Cys,ENST00000287748,NM_144634.2;LYZL4,missense_variant,p.Gly18Cys,ENST00000441172,;LYZL4,intron_variant,,ENST00000470991,;							MODERATE	52/441	G18C	LYZL4_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000287748		CCDS2697.1			1	
VWA3A	0	LGGM	GRCh37	16	22159611	22159611	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	41	3	.	.	ENST00000389398.5:c.2968C>A	p.Arg990=	p.R990=	ENST00000389398	NM_173615.3	990	Cgg/Agg	0	1	1	UPI0001663067	0		ENST00000389398		ENSG00000175267	27088		44			HGNC	p.R92R		VWA3A		SNV							ENST00000389397	protein_coding			Gene3D:3.40.50.410,Pfam_domain:PF13768,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,SMART_domains:SM00327,Superfamily_domains:SSF53300		R		A		3064/4600				H3BTX3_HUMAN			YES	VWA3A,synonymous_variant,p.=,ENST00000389397,;VWA3A,synonymous_variant,p.=,ENST00000389398,NM_173615.3;VWA3A,synonymous_variant,p.=,ENST00000563755,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;							LOW	2968/3555		VWA3A_HUMAN			Transcript			.	ENSP00000374049		CCDS45441.1			1	
BCAT2	0	LGGM	GRCh37	19	49300237	49300237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	28	3	.	.	ENST00000316273.6:c.881C>A	p.Pro294His	p.P294H	ENST00000316273	NM_001190.3	294	cCt/cAt	0	1	1	UPI00001267CC	0	getma.org/pdb.php?prot=BCAT2_HUMAN&from=118&to=366&var=P294H	ENST00000316273		ENSG00000105552	977		31	3.03		HGNC	p.P254H		BCAT2		SNV							ENST00000402551	protein_coding	getma.org/?cm=var&var=hg19,19,49300237,G,T&fts=all		Gene3D:3.20.10.10,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,PROSITE_patterns:PS00770,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF2,Superfamily_domains:SSF56752,TIGRFAM_domain:TIGR01123		P/H		T	medium	894/1552		getma.org/?cm=msa&ty=f&p=BCAT2_HUMAN&rb=118&re=366&var=P294H	deleterious(0)	M0R2K7_HUMAN,B3KSI3_HUMAN			YES	BCAT2,missense_variant,p.Pro254His,ENST00000402551,NM_001284325.1;BCAT2,missense_variant,p.Pro286His,ENST00000593515,;BCAT2,missense_variant,p.Pro254His,ENST00000597011,;BCAT2,missense_variant,p.Pro294His,ENST00000316273,NM_001190.3;BCAT2,missense_variant,p.Pro202His,ENST00000599246,;BCAT2,missense_variant,p.Pro294His,ENST00000598162,;BCAT2,missense_variant,p.Pro202His,ENST00000545387,NM_001164773.1;BCAT2,downstream_gene_variant,,ENST00000601681,;RNU6-317P,upstream_gene_variant,,ENST00000384031,;BCAT2,non_coding_transcript_exon_variant,,ENST00000599510,;BCAT2,downstream_gene_variant,,ENST00000595376,;							MODERATE	881/1179	P294H	BCAT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322991		CCDS12735.1			1	
ITGA3	0	LGGM	GRCh37	17	48156484	48156484	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	30	3	.	.	ENST00000007722.7:c.2445C>A	p.Val815=	p.V815=	ENST00000007722		815	gtC/gtA	0	1		UPI000002AC1A	0		ENST00000320031		ENSG00000005884	6139		33			HGNC	p.V815V		ITGA3		SNV			1				ENST00000320031	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF75,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179		V		A		2775/4888				B4E0H8_HUMAN				ITGA3,synonymous_variant,p.=,ENST00000320031,NM_002204.2,NM_005501.2;ITGA3,synonymous_variant,p.=,ENST00000007722,;ITGA3,intron_variant,,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,downstream_gene_variant,,ENST00000506401,;ITGA3,downstream_gene_variant,,ENST00000505552,;ITGA3,downstream_gene_variant,,ENST00000505612,;ITGA3,downstream_gene_variant,,ENST00000510809,;ITGA3,downstream_gene_variant,,ENST00000507771,;ITGA3,upstream_gene_variant,,ENST00000504417,;							LOW	2445/3156		ITA3_HUMAN			Transcript			.	ENSP00000315190		CCDS11558.1			1	
TTC3	0	LGGM	GRCh37	21	38460132	38460132	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	9	4	.	.	ENST00000399017.2:c.145-1G>T		p.X49_splice	ENST00000399017	NM_003316.3			0	1		UPI00001B043E	0		ENST00000354749		ENSG00000182670	12393		13			HGNC	-		TTC3		SNV							ENST00000418766	protein_coding							T		-/9084				E9PMS7_HUMAN,E9PMP8_HUMAN				TTC3,splice_acceptor_variant,,ENST00000399017,NM_003316.3;TTC3,splice_acceptor_variant,,ENST00000354749,;TTC3,splice_acceptor_variant,,ENST00000355666,NM_001001894.1;TTC3,splice_acceptor_variant,,ENST00000418766,;TTC3,splice_acceptor_variant,,ENST00000438055,;TTC3,splice_acceptor_variant,,ENST00000450533,;TTC3,splice_acceptor_variant,,ENST00000399010,;TTC3,intron_variant,,ENST00000540756,;TTC3,splice_acceptor_variant,,ENST00000479930,;TTC3,splice_acceptor_variant,,ENST00000484047,;TTC3,intron_variant,,ENST00000485402,;TTC3,intron_variant,,ENST00000481605,;TTC3,intron_variant,,ENST00000494243,;TTC3,intron_variant,,ENST00000463216,;TTC3,intron_variant,,ENST00000492275,;TTC3,upstream_gene_variant,,ENST00000491952,;TTC3,upstream_gene_variant,,ENST00000460328,;							HIGH	145/6078		TTC3_HUMAN			Transcript			.	ENSP00000346791		CCDS13651.1			1	
TRIM41	0	LGGM	GRCh37	5	180651332	180651332	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	87	4	.	.	ENST00000315073.5:c.333C>A	p.Gly111=	p.G111=	ENST00000315073	NM_033549.4	111	ggC/ggA	0	1	1	UPI00001B248B	0		ENST00000315073		ENSG00000146063	19013		91			HGNC	p.G111G		TRIM41		SNV							ENST00000351937	protein_coding			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF286,SMART_domains:SM00184		G		A		1043/3637				D6REK2_HUMAN			YES	TRIM41,synonymous_variant,p.=,ENST00000315073,NM_033549.4;TRIM41,synonymous_variant,p.=,ENST00000351937,NM_201627.2;TRIM41,intron_variant,,ENST00000515499,;MIR4638,upstream_gene_variant,,ENST00000581158,;CTC-338M12.7,downstream_gene_variant,,ENST00000499096,;TRIM41,synonymous_variant,p.=,ENST00000503114,;TRIM41,non_coding_transcript_exon_variant,,ENST00000515223,;TRIM41,non_coding_transcript_exon_variant,,ENST00000508930,;TRIM41,upstream_gene_variant,,ENST00000515834,;							LOW	333/1893		TRI41_HUMAN			Transcript			.	ENSP00000320869		CCDS4466.1			1	
WI2-3658N16.1	0	LGGM	GRCh37	1	146246153	146246153	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	73	4	.	.	ENST00000491285.1:n.1017G>T		*339*	ENST00000491285				0	1	1		0		ENST00000491285		ENSG00000232637			77			Clone_based_vega_gene	p.E164X		WI2-3658N16.1		SNV							ENST00000429672	transcribed_unprocessed_pseudogene							A		1017/5496							YES	WI2-3658N16.1,non_coding_transcript_exon_variant,,ENST00000491285,;WI2-3658N16.1,non_coding_transcript_exon_variant,,ENST00000429672,;							MODIFIER						Transcript			.						1	
LGR6	0	LGGM	GRCh37	1	202194614	202194614	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	84	4	.	.	ENST00000367278.3:c.276G>T	p.Leu92Phe	p.L92F	ENST00000367278	NM_001017403.1	92	ttG/ttT	0	1	1	UPI0000161221	0	getma.org/pdb.php?prot=LGR6_HUMAN&from=91&to=150&var=L92F	ENST00000367278		ENSG00000133067	19719		88	3.81		HGNC	p.L49F		LGR6		SNV							ENST00000439764	protein_coding	getma.org/?cm=var&var=hg19,1,202194614,G,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF12,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058		L/F		T	high	365/3567		getma.org/?cm=msa&ty=f&p=LGR6_HUMAN&rb=91&re=150&var=L92F	deleterious(0.01)				YES	LGR6,missense_variant,p.Leu92Phe,ENST00000367278,NM_001017403.1;LGR6,missense_variant,p.Leu40Phe,ENST00000255432,NM_021636.2;LGR6,missense_variant,p.Leu49Phe,ENST00000439764,NM_001017404.1;LGR6,missense_variant,p.Leu18Phe,ENST00000423542,;LGR6,missense_variant,p.Leu40Phe,ENST00000487787,;LGR6,non_coding_transcript_exon_variant,,ENST00000503519,;							MODERATE	276/2904	L92F	LGR6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000356247		CCDS30971.1			1	
C18orf54	0	LGGM	GRCh37	18	51888068	51888068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	4	.	.	ENST00000300091.5:c.339C>A	p.His113Gln	p.H113Q	ENST00000300091	NM_173529.4	113	caC/caA	0	1	1	UPI0000074279	0	NA	ENST00000300091		ENSG00000166845	13796		39	-0.92		HGNC	p.H113Q		C18orf54		SNV							ENST00000382911	protein_coding	getma.org/?cm=var&var=hg19,18,51888068,C,A&fts=all				H/Q		A	neutral	671/5237		getma.org/?cm=msa&ty=f&p=LAS2_HUMAN&rb=1&re=200&var=H113Q	tolerated(1)	J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN			YES	C18orf54,missense_variant,p.His113Gln,ENST00000300091,NM_173529.4;C18orf54,missense_variant,p.His113Gln,ENST00000382911,;C18orf54,intron_variant,,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000577499,;STARD6,upstream_gene_variant,,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000582188,;							MODERATE	339/1119	H113Q	LAS2_HUMAN			Transcript		benign(0)	.	ENSP00000300091		CCDS11956.1			1	
GPR141	0	LGGM	GRCh37	7	37780632	37780632	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	59	4	.	.	ENST00000447769.1:c.637C>A	p.His213Asn	p.H213N	ENST00000447769		213	Cac/Aac	0	1		UPI000004B92B	0	getma.org/pdb.php?prot=GP141_HUMAN&from=34&to=279&var=H213N	ENST00000334425		ENSG00000187037	19997		63	1.7		HGNC	p.H213N		GPR141		SNV							ENST00000334425	protein_coding	getma.org/?cm=var&var=hg19,7,37780632,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF0,Superfamily_domains:SSF81321		H/N		A	low	637/918		getma.org/?cm=msa&ty=f&p=GP141_HUMAN&rb=34&re=279&var=H213N	tolerated(0.7)	C9JDP7_HUMAN				GPR141,missense_variant,p.His213Asn,ENST00000447769,;GPR141,missense_variant,p.His213Asn,ENST00000334425,NM_181791.1;EPDR1,intron_variant,,ENST00000476620,;GPR141,downstream_gene_variant,,ENST00000450180,;GPR141,intron_variant,,ENST00000461610,;							MODERATE	637/918	H213N	GP141_HUMAN			Transcript		benign(0.415)	.	ENSP00000334540		CCDS5451.1			1	
PDPR	0	LGGM	GRCh37	16	70165228	70165228	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	80	4	.	.	ENST00000288050.4:c.753C>A	p.Ser251=	p.S251=	ENST00000288050	NM_017990.3	251	tcC/tcA	0	1	1	UPI00001FF513	0		ENST00000288050		ENSG00000090857	30264		84			HGNC	p.S151S		PDPR		SNV							ENST00000398122	protein_coding			hmmpanther:PTHR13847:SF146,hmmpanther:PTHR13847,Gene3D:3.50.50.60,Pfam_domain:PF01266,Superfamily_domains:SSF51905		S		A		1710/7999				H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN			YES	PDPR,synonymous_variant,p.=,ENST00000288050,NM_017990.3;PDPR,synonymous_variant,p.=,ENST00000568530,;PDPR,synonymous_variant,p.=,ENST00000398122,;PDPR,upstream_gene_variant,,ENST00000562100,;PDPR,synonymous_variant,p.=,ENST00000565186,;PDPR,intron_variant,,ENST00000561920,;							LOW	753/2640		PDPR_HUMAN			Transcript			.	ENSP00000288050		CCDS45520.1			1	
SCO2	0	LGGM	GRCh37	22	50962117	50962117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	4	.	.	ENST00000543927.1:c.724G>T	p.Gly242Cys	p.G242C	ENST00000543927	NM_001169109.1	242	Ggc/Tgc	0	1		UPI000013566C	0	getma.org/pdb.php?prot=SCO2_HUMAN&from=64&to=245&var=G242C	ENST00000252785		ENSG00000130489	10604		48	3.225		HGNC	p.G242C		SCO2		SNV			1				ENST00000252785	protein_coding	getma.org/?cm=var&var=hg19,22,50962117,C,A&fts=all		Gene3D:3.40.30.10,PIRSF_domain:PIRSF037736,PROSITE_profiles:PS51352,hmmpanther:PTHR12151,hmmpanther:PTHR12151:SF2,Superfamily_domains:SSF52833		G/C		A	medium	900/992		getma.org/?cm=msa&ty=f&p=SCO2_HUMAN&rb=64&re=245&var=G242C	deleterious(0)	C9JBU1_HUMAN				SCO2,missense_variant,p.Gly242Cys,ENST00000543927,NM_001169109.1;SCO2,missense_variant,p.Gly242Cys,ENST00000535425,NM_001169110.1;SCO2,missense_variant,p.Gly242Cys,ENST00000252785,NM_001169111.1;SCO2,missense_variant,p.Gly242Cys,ENST00000395693,NM_005138.2;NCAPH2,downstream_gene_variant,,ENST00000395701,;NCAPH2,downstream_gene_variant,,ENST00000420993,NM_001185011.1,NM_152299.3;NCAPH2,downstream_gene_variant,,ENST00000299821,;TYMP,downstream_gene_variant,,ENST00000252029,NM_001953.4,NM_001113755.2,NM_001257989.1,NM_001113756.2,NM_001257988.1;TYMP,downstream_gene_variant,,ENST00000395678,;TYMP,downstream_gene_variant,,ENST00000395680,;TYMP,downstream_gene_variant,,ENST00000395681,;TYMP,downstream_gene_variant,,ENST00000425169,;NCAPH2,downstream_gene_variant,,ENST00000395698,NM_014551.4;NCAPH2,downstream_gene_variant,,ENST00000523045,;SCO2,downstream_gene_variant,,ENST00000423348,;SCO2,downstream_gene_variant,,ENST00000439934,;NCAPH2,downstream_gene_variant,,ENST00000522304,;CTA-384D8.36,upstream_gene_variant,,ENST00000608319,;NCAPH2,downstream_gene_variant,,ENST00000520297,;TYMP,downstream_gene_variant,,ENST00000487162,;TYMP,downstream_gene_variant,,ENST00000487577,;TYMP,downstream_gene_variant,,ENST00000476284,;NCAPH2,downstream_gene_variant,,ENST00000522048,;							MODERATE	724/801	G242C	SCO2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000252785		CCDS14095.1			1	
SLC7A11	0	LGGM	GRCh37	4	139103537	139103537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	4	.	.	ENST00000280612.5:c.1030G>T	p.Val344Phe	p.V344F	ENST00000280612	NM_014331.3	344	Gtt/Ttt	0	1	1	UPI0000138FD5	0	getma.org/pdb.php?prot=XCT_HUMAN&from=44&to=469&var=V344F	ENST00000280612		ENSG00000151012	11059		37	3.48		HGNC	p.V344F		SLC7A11		SNV							ENST00000280612	protein_coding	getma.org/?cm=var&var=hg19,4,139103537,C,A&fts=all		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF248,Pfam_domain:PF13520,TIGRFAM_domain:TIGR00911,PIRSF_domain:PIRSF006060		V/F		A	medium	1310/9645		getma.org/?cm=msa&ty=f&p=XCT_HUMAN&rb=44&re=469&var=V344F	deleterious(0)	Q9P1X0_HUMAN,Q4W5A5_HUMAN			YES	SLC7A11,missense_variant,p.Val344Phe,ENST00000280612,NM_014331.3;SLC7A11-AS1,downstream_gene_variant,,ENST00000510767,;SLC7A11,intron_variant,,ENST00000509248,;							MODERATE	1030/1506	V344F	XCT_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000280612		CCDS3742.1			1	
MAPT	0	LGGM	GRCh37	17	44068923	44068923	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	89	4	.	.	ENST00000344290.5:c.1478C>A	p.Pro493Gln	p.P493Q	ENST00000344290	NM_001123066.3	493	cCg/cAg	0	1		UPI0000EE80B7	0	NA	ENST00000262410		ENSG00000186868	6893		93	0.69		HGNC	p.P107Q		MAPT		SNV			1				ENST00000576518	protein_coding	getma.org/?cm=var&var=hg19,17,44068923,C,A&fts=all		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF14,Low_complexity_(Seg):seg		P/Q		A	neutral	1800/6762		getma.org/?cm=msa&ty=f&p=TAU_HUMAN&rb=1&re=525&var=P493Q	deleterious(0)					MAPT,missense_variant,p.Pro493Gln,ENST00000344290,NM_001123066.3;MAPT,missense_variant,p.Pro107Gln,ENST00000576518,;MAPT,missense_variant,p.Pro493Gln,ENST00000262410,NM_016835.4;MAPT,missense_variant,p.Pro176Gln,ENST00000351559,NM_005910.5;MAPT,missense_variant,p.Pro147Gln,ENST00000340799,NM_001123067.3,NM_016834.4;MAPT,missense_variant,p.Pro176Gln,ENST00000535772,NM_001203252.1,NM_001203251.1;MAPT,missense_variant,p.Pro82Gln,ENST00000347967,;MAPT,missense_variant,p.Pro118Gln,ENST00000446361,;MAPT,missense_variant,p.Pro493Gln,ENST00000415613,;MAPT,missense_variant,p.Pro493Gln,ENST00000571987,;MAPT,missense_variant,p.Pro176Gln,ENST00000574436,;MAPT,missense_variant,p.Pro147Gln,ENST00000420682,;MAPT,missense_variant,p.Pro176Gln,ENST00000431008,;MAPT,missense_variant,p.Pro118Gln,ENST00000334239,NM_016841.4;MAPT,non_coding_transcript_exon_variant,,ENST00000570299,;MAPT,downstream_gene_variant,,ENST00000577017,;							MODERATE	1478/2277	P493Q	TAU_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000262410		CCDS11501.1			1	
ANKS3	0	LGGM	GRCh37	16	4780084	4780084	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	88	4	.	.	ENST00000304283.4:c.67G>T	p.Gly23Trp	p.G23W	ENST00000304283	NM_133450.3	23	Ggg/Tgg	0	1	1	UPI00001C08FE	0	getma.org/pdb.php?prot=ANKS3_HUMAN&from=22&to=99&var=G23W	ENST00000304283		ENSG00000168096	29422		92	1.82		HGNC	p.G23W		ANKS3		SNV							ENST00000590193	protein_coding	getma.org/?cm=var&var=hg19,16,4780084,C,A&fts=all		hmmpanther:PTHR24184:SF6,hmmpanther:PTHR24184		G/W		A	low	362/2662		getma.org/?cm=msa&ty=f&p=ANKS3_HUMAN&rb=22&re=99&var=G23W	deleterious(0)	K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN			YES	ANKS3,missense_variant,p.Gly23Trp,ENST00000304283,NM_133450.3;ANKS3,missense_variant,p.Gly23Trp,ENST00000592421,;ANKS3,missense_variant,p.Gly23Trp,ENST00000590147,;ANKS3,missense_variant,p.Gly23Trp,ENST00000592711,;ANKS3,missense_variant,p.Gly23Trp,ENST00000592190,;ANKS3,missense_variant,p.Gly23Trp,ENST00000589065,;ANKS3,5_prime_UTR_variant,,ENST00000446014,NM_001242929.1;ANKS3,5_prime_UTR_variant,,ENST00000450067,;ANKS3,5_prime_UTR_variant,,ENST00000592698,;ANKS3,intron_variant,,ENST00000585773,;ANKS3,intron_variant,,ENST00000586605,;ANKS3,intron_variant,,ENST00000586166,;C16orf71,upstream_gene_variant,,ENST00000299320,NM_139170.2;C16orf71,upstream_gene_variant,,ENST00000590191,;C16orf71,upstream_gene_variant,,ENST00000586724,;RP11-127I20.7,downstream_gene_variant,,ENST00000588099,;ANKS3,missense_variant,p.Gly23Trp,ENST00000592077,;ANKS3,missense_variant,p.Gly23Trp,ENST00000590193,;ANKS3,missense_variant,p.Gly23Trp,ENST00000590730,;ANKS3,missense_variant,p.Gly23Trp,ENST00000592068,;ANKS3,missense_variant,p.Gly23Trp,ENST00000586159,;ANKS3,missense_variant,p.Gly23Trp,ENST00000587005,;ANKS3,missense_variant,p.Gly23Trp,ENST00000591281,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590689,;ANKS3,non_coding_transcript_exon_variant,,ENST00000593120,;C16orf71,upstream_gene_variant,,ENST00000586256,;ANKS3,upstream_gene_variant,,ENST00000591653,;ANKS3,upstream_gene_variant,,ENST00000590803,;ANKS3,upstream_gene_variant,,ENST00000586632,;							MODERATE	67/1971	G23W	ANKS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304586		CCDS10520.1			1	
ALAS1	0	LGGM	GRCh37	3	52236616	52236616	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	56	4	.	.	ENST00000394965.2:c.293C>A	p.Pro98His	p.P98H	ENST00000394965	NM_000688.5	98	cCt/cAt	0	1		UPI0000001230	0	NA	ENST00000310271		ENSG00000023330	396		60	0.69		HGNC	p.P98H		ALAS1		SNV							ENST00000469224	protein_coding	getma.org/?cm=var&var=hg19,3,52236616,C,A&fts=all		hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF50		P/H		A	neutral	438/2212		getma.org/?cm=msa&ty=f&p=HEM1_HUMAN&rb=77&re=139&var=P98H	tolerated(0.11)	Q5JAM2_HUMAN				ALAS1,missense_variant,p.Pro98His,ENST00000394965,NM_000688.5;ALAS1,missense_variant,p.Pro98His,ENST00000484952,;ALAS1,missense_variant,p.Pro98His,ENST00000310271,NM_199166.2;ALAS1,missense_variant,p.Pro98His,ENST00000469224,;ALAS1,upstream_gene_variant,,ENST00000493402,;							MODERATE	293/1923	P98H	HEM1_HUMAN			Transcript		possibly_damaging(0.528)	.	ENSP00000309259		CCDS2847.1			1	
MTHFD1	0	LGGM	GRCh37	14	64896928	64896928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	83	4	.	.	ENST00000216605.8:c.1291C>A	p.Gln431Lys	p.Q431K	ENST00000216605	NM_005956.3	431	Cag/Aag	0	1	1	UPI000013C6FA	0	getma.org/pdb.php?prot=C1TC_HUMAN&from=316&to=935&var=Q431K	ENST00000216605		ENSG00000100714	7432		87	3.795		HGNC	p.Q431K		MTHFD1		SNV			1				ENST00000555709	protein_coding	getma.org/?cm=var&var=hg19,14,64896928,C,A&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF01268,hmmpanther:PTHR10025:SF30,hmmpanther:PTHR10025,HAMAP:MF_01543		Q/K		A	high	1369/3135		getma.org/?cm=msa&ty=f&p=C1TC_HUMAN&rb=316&re=935&var=Q431K	deleterious(0)				YES	MTHFD1,missense_variant,p.Gln487Lys,ENST00000545908,;MTHFD1,missense_variant,p.Gln431Lys,ENST00000216605,NM_005956.3;CTD-2555O16.2,intron_variant,,ENST00000556640,;MTHFD1,downstream_gene_variant,,ENST00000553391,;MTHFD1,downstream_gene_variant,,ENST00000554057,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000555252,;MTHFD1,upstream_gene_variant,,ENST00000554677,;							MODERATE	1291/2808	Q431K	C1TC_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000216605		CCDS9763.1			1	
CEP170	0	LGGM	GRCh37	1	243354575	243354575	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	87	4	.	.	ENST00000366542.1:c.853G>T	p.Asp285Tyr	p.D285Y	ENST00000366542	NM_014812.2	285	Gat/Tat	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		91	2.215		HGNC	p.D285Y		CEP170		SNV							ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243354575,C,A&fts=all		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		D/Y		A	medium	905/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=91&re=290&var=D285Y	deleterious(0)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Asp285Tyr,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Asp285Tyr,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Asp285Tyr,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Asp187Tyr,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000461671,;CEP170,upstream_gene_variant,,ENST00000521911,;							MODERATE	853/4755	D285Y	CE170_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355500		CCDS44339.1			1	
UBR2	0	LGGM	GRCh37	6	42656095	42656095	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	94	4	.	.	ENST00000372899.1:c.4995C>A	p.Ser1665=	p.S1665=	ENST00000372899	NM_015255.2	1665	tcC/tcA	0	1	1	UPI0000074466	0		ENST00000372899		ENSG00000024048	21289		98			HGNC	p.S1665S	rs760612307	UBR2		SNV							ENST00000372899	protein_coding			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28		S		A		5253/7857	3.00E-05			B3KXG6_HUMAN			YES	UBR2,synonymous_variant,p.=,ENST00000372901,;UBR2,synonymous_variant,p.=,ENST00000372899,NM_015255.2;UBR2,3_prime_UTR_variant,,ENST00000372883,;							LOW	4995/5268		UBR2_HUMAN			Transcript			.	ENSP00000361990	1.65E-05	CCDS4870.1			1	
OR10G8	0	LGGM	GRCh37	11	123901115	123901115	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	4	.	.	ENST00000431524.1:c.786C>A	p.Gly262=	p.G262=	ENST00000431524	NM_001004464.1	262	ggC/ggA	0	1	1	UPI0000040A8F	0		ENST00000431524		ENSG00000234560	14845		48			HGNC	p.G262G		OR10G8		SNV							ENST00000431524	protein_coding			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262		G		A		819/1045							YES	OR10G8,synonymous_variant,p.=,ENST00000431524,NM_001004464.1;							LOW	786/936		O10G8_HUMAN			Transcript			.	ENSP00000389072		CCDS31704.1			1	
ZBTB39	0	LGGM	GRCh37	12	57397689	57397689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	67	4	.	.	ENST00000300101.2:c.1013G>T	p.Arg338Leu	p.R338L	ENST00000300101	NM_014830.2	338	cGg/cTg	0	1	1	UPI0000139682	0	getma.org/pdb.php?prot=ZBT39_HUMAN&from=320&to=507&var=R338L	ENST00000300101		ENSG00000166860	29014		71	1.665		HGNC	p.R338L		ZBTB39		SNV							ENST00000300101	protein_coding	getma.org/?cm=var&var=hg19,12,57397689,C,A&fts=all		hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF46		R/L		A	low	1099/6170		getma.org/?cm=msa&ty=f&p=ZBT39_HUMAN&rb=320&re=507&var=R338L	tolerated(0.32)				YES	ZBTB39,missense_variant,p.Arg338Leu,ENST00000300101,NM_014830.2;							MODERATE	1013/2139	R338L	ZBT39_HUMAN			Transcript		benign(0.109)	.	ENSP00000300101		CCDS31839.1			1	
JAK2	0	LGGM	GRCh37	9	5054740	5054740	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	95	4	.	.	ENST00000381652.3:c.792C>A	p.Ala264=	p.A264=	ENST00000381652	NM_004972.3	264	gcC/gcA	0	1	1	UPI000012DA9E	0		ENST00000381652		ENSG00000096968	6192		99			HGNC	p.A264A		JAK2		SNV			1				ENST00000381652	protein_coding			PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,PIRSF_domain:PIRSF000636,SMART_domains:SM00295		A		A		1286/5285				Q8IXP2_HUMAN,F5H5U8_HUMAN			YES	JAK2,synonymous_variant,p.=,ENST00000381652,NM_004972.3;JAK2,synonymous_variant,p.=,ENST00000539801,;JAK2,synonymous_variant,p.=,ENST00000544510,;							LOW	792/3399		JAK2_HUMAN			Transcript			.	ENSP00000371067		CCDS6457.1			1	
VCAN	0	LGGM	GRCh37	5	82837049	82837049	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	58	4	.	.	ENST00000265077.3:c.8227C>A	p.Gln2743Lys	p.Q2743K	ENST00000265077	NM_004385.4	2743	Caa/Aaa	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		62	0.69		HGNC	p.Q1756K		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82837049,C,A&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		Q/K		A	neutral	8792/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2617&re=2816&var=Q2743K	deleterious(0.01)				YES	VCAN,missense_variant,p.Gln2743Lys,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Gln1756Lys,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN,downstream_gene_variant,,ENST00000513960,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	8227/10191	Q2743K	CSPG2_HUMAN			Transcript		benign(0.041)	.	ENSP00000265077		CCDS4060.1			1	
ZNF286A	0	LGGM	GRCh37	17	15619648	15619648	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	4	.	.	ENST00000413242.2:c.610C>A	p.Leu204Ile	p.L204I	ENST00000413242		204	Ctt/Att	0	1		UPI000013C347	0	getma.org/pdb.php?prot=Z286A_HUMAN&from=82&to=256&var=L204I	ENST00000413242		ENSG00000255104	13501		39	2.655		HGNC	p.L204I		ZNF286A		SNV							ENST00000413242	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,17,15619648,C,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF217		L/I		A	medium	929/4262		getma.org/?cm=msa&ty=f&p=Z286A_HUMAN&rb=82&re=256&var=L204I	tolerated(0.13)	K7EQ88_HUMAN,A1A525_HUMAN			YES	ZNF286A,missense_variant,p.Leu204Ile,ENST00000464847,NM_001288644.1,NM_001288643.1,NM_001288642.1;ZNF286A,missense_variant,p.Leu204Ile,ENST00000421016,NM_020652.2,NM_001130842.1;ZNF286A,missense_variant,p.Leu194Ile,ENST00000593105,;ZNF286A,missense_variant,p.Leu204Ile,ENST00000583566,;ZNF286A,missense_variant,p.Leu92Ile,ENST00000579694,;ZNF286A,3_prime_UTR_variant,,ENST00000395894,NM_001288648.1,NM_001288645.1,NM_001288646.1,NM_001288647.1,NM_001288649.1;ZNF286A,3_prime_UTR_variant,,ENST00000472486,;ZNF286A,3_prime_UTR_variant,,ENST00000581529,;ZNF286A,downstream_gene_variant,,ENST00000585194,;ZNF286A,downstream_gene_variant,,ENST00000580393,;ZNF286A,downstream_gene_variant,,ENST00000580259,;ZNF286A,downstream_gene_variant,,ENST00000583031,;ZNF286A,intron_variant,,ENST00000585171,;ZNF286A,intron_variant,,ENST00000583675,;ZNF286A,upstream_gene_variant,,ENST00000578920,;ZNF286A,downstream_gene_variant,,ENST00000580136,;ZNF286A,downstream_gene_variant,,ENST00000578258,;ZNF286A,missense_variant,p.Leu204Ile,ENST00000413242,;ZNF286A,missense_variant,p.Leu194Ile,ENST00000412988,;							MODERATE	610/1566	L204I	Z286A_HUMAN			Transcript		benign(0.004)	.	ENSP00000458062		CCDS11172.1			1	
MNX1	0	LGGM	GRCh37	7	156798502	156798502	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	67	4	.	.	ENST00000252971.6:c.918G>T	p.Ala306=	p.A306=	ENST00000252971	NM_005515.3	306	gcG/gcT	0	1	1	UPI000020E726	0		ENST00000252971		ENSG00000130675	4979		71			HGNC	p.A94A		MNX1		SNV			1				ENST00000543409	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24335		A		A		1219/2174							YES	MNX1,synonymous_variant,p.=,ENST00000252971,NM_005515.3;MNX1,synonymous_variant,p.=,ENST00000543409,NM_001165255.1;MNX1,intron_variant,,ENST00000469500,;MNX1,intron_variant,,ENST00000479817,;MNX1,downstream_gene_variant,,ENST00000428439,;MNX1,downstream_gene_variant,,ENST00000425745,;MNX1-AS1,upstream_gene_variant,,ENST00000480284,;MNX1-AS2,upstream_gene_variant,,ENST00000429228,;MNX1,downstream_gene_variant,,ENST00000605400,;MNX1,downstream_gene_variant,,ENST00000474448,;							LOW	918/1206		MNX1_HUMAN			Transcript			.	ENSP00000252971		CCDS34788.1			1	
ZNF730	0	LGGM	GRCh37	19	23329072	23329072	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	73	4	.	.	ENST00000597761.2:c.1226C>A	p.Ser409Ter	p.S409*	ENST00000597761	NM_001277403.1	409	tCa/tAa	0	1	1	UPI000035E7F4	0	NA	ENST00000597761		ENSG00000183850	32470		77	0		HGNC	p.S409X		ZNF730		SNV							ENST00000597761	protein_coding	getma.org/?cm=var&var=hg19,19,23329072,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF110,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/*		A	NA	1425/2374		NA					YES	ZNF730,stop_gained,p.Ser409Ter,ENST00000597761,NM_001277403.1;ZNF730,downstream_gene_variant,,ENST00000599195,;							HIGH	1226/1512	S409*	ZN730_HUMAN			Transcript			.	ENSP00000472959		CCDS59371.1			1	
AP1M2	0	LGGM	GRCh37	19	10692032	10692032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	72	4	.	.	ENST00000250244.6:c.583G>T	p.Val195Phe	p.V195F	ENST00000250244	NM_005498.4	195	Gtc/Ttc	0	1	1	UPI0000124FEB	0	getma.org/pdb.php?prot=AP1M2_HUMAN&from=157&to=422&var=V195F	ENST00000250244		ENSG00000129354	558		76	2.38		HGNC	p.V275F		AP1M2		SNV							ENST00000591676	protein_coding	getma.org/?cm=var&var=hg19,19,10692032,C,A&fts=all		PROSITE_profiles:PS51072,hmmpanther:PTHR11998:SF26,hmmpanther:PTHR11998,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852		V/F		A	medium	666/1749		getma.org/?cm=msa&ty=f&p=AP1M2_HUMAN&rb=157&re=422&var=V195F	tolerated(0.06)	K7EPR4_HUMAN			YES	AP1M2,missense_variant,p.Val195Phe,ENST00000590923,;AP1M2,missense_variant,p.Val195Phe,ENST00000250244,NM_005498.4;AP1M2,missense_variant,p.Val275Phe,ENST00000591676,;AP1M2,missense_variant,p.Val169Phe,ENST00000589684,;AP1M2,missense_variant,p.Val116Phe,ENST00000591240,;AP1M2,upstream_gene_variant,,ENST00000587069,;AP1M2,upstream_gene_variant,,ENST00000589348,;AP1M2,upstream_gene_variant,,ENST00000592285,;AP1M2,downstream_gene_variant,,ENST00000589571,;AP1M2,downstream_gene_variant,,ENST00000589809,;							MODERATE	583/1272	V195F	AP1M2_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000250244		CCDS45964.1			1	
FAM208B	0	LGGM	GRCh37	10	5790378	5790378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	33	4	.	.	ENST00000328090.5:c.4994C>A	p.Ala1665Asp	p.A1665D	ENST00000328090	NM_017782.4	1665	gCt/gAt	0	1	1	UPI00004589BB	0	NA	ENST00000328090		ENSG00000108021	23484		37	0.975		HGNC	p.A1665D		FAM208B		SNV							ENST00000328090	protein_coding	getma.org/?cm=var&var=hg19,10,5790378,C,A&fts=all		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		A/D		A	low	5619/8626		getma.org/?cm=msa&ty=f&p=F208B_HUMAN&rb=1601&re=1800&var=A1665D	deleterious(0.03)				YES	FAM208B,missense_variant,p.Ala1665Asp,ENST00000328090,NM_017782.4;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;							MODERATE	4994/7293	A1665D	F208B_HUMAN			Transcript		benign(0.02)	.	ENSP00000328426		CCDS41485.1			1	
POLR3A	0	LGGM	GRCh37	10	79773476	79773476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	70	4	.	.	ENST00000372371.3:c.1504G>T	p.Gly502Cys	p.G502C	ENST00000372371	NM_007055.3	502	Ggt/Tgt	0	1	1	UPI000007456A	0	getma.org/pdb.php?prot=RPC1_HUMAN&from=358&to=525&var=G502C	ENST00000372371		ENSG00000148606	30074		74	5.41		HGNC	p.G502C		POLR3A		SNV			1				ENST00000372371	protein_coding	getma.org/?cm=var&var=hg19,10,79773476,C,A&fts=all		hmmpanther:PTHR19376:SF31,hmmpanther:PTHR19376,Pfam_domain:PF00623,Gene3D:2.40.40.20,SMART_domains:SM00663,Superfamily_domains:SSF64484		G/C		A	high	1642/6640		getma.org/?cm=msa&ty=f&p=RPC1_HUMAN&rb=358&re=525&var=G502C	deleterious(0)	Q8TCW4_HUMAN,Q8TCW3_HUMAN,Q8TCW2_HUMAN			YES	POLR3A,missense_variant,p.Gly502Cys,ENST00000372371,NM_007055.3;POLR3A,non_coding_transcript_exon_variant,,ENST00000484760,;POLR3A,upstream_gene_variant,,ENST00000472014,;POLR3A,missense_variant,p.Gly103Cys,ENST00000473588,;							MODERATE	1504/4173	G502C	RPC1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000361446		CCDS7354.1			1	
CYP2A13	0	LGGM	GRCh37	19	41600295	41600295	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	38	4	.	.	ENST00000330436.3:c.1119G>T	p.Arg373Ser	p.R373S	ENST00000330436	NM_000766.4	373	agG/agT	0	1	1	UPI000013E07A	0	getma.org/pdb.php?prot=CP2AD_HUMAN&from=34&to=491&var=R373S	ENST00000330436		ENSG00000197838	2608		42	0.17		HGNC	p.R373S		CYP2A13		SNV							ENST00000330436	protein_coding	getma.org/?cm=var&var=hg19,19,41600295,G,T&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		R/S		T	neutral	1119/1739		getma.org/?cm=msa&ty=f&p=CP2AD_HUMAN&rb=34&re=491&var=R373S	tolerated(0.63)				YES	CYP2A13,missense_variant,p.Arg373Ser,ENST00000330436,NM_000766.4;							MODERATE	1119/1485	R373S	CP2AD_HUMAN			Transcript		benign(0.375)	.	ENSP00000332679		CCDS12571.1			1	
VAX2	0	LGGM	GRCh37	2	71160028	71160028	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	4	.	.	ENST00000234392.2:c.567C>A	p.Gly189=	p.G189=	ENST00000234392	NM_012476.2	189	ggC/ggA	0	1	1	UPI0000138215	0		ENST00000234392		ENSG00000116035	12661		25			HGNC	p.G189G		VAX2		SNV							ENST00000234392	protein_coding			hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF23		G		A		599/1147				F1T0K5_HUMAN			YES	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,;							LOW	567/873		VAX2_HUMAN			Transcript			.	ENSP00000234392		CCDS1911.1			1	
HIVEP2	0	LGGM	GRCh37	6	143095068	143095068	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	32	4	.	.	ENST00000367603.2:c.808G>T	p.Glu270Ter	p.E270*	ENST00000367603	NM_006734.3	270	Gaa/Taa	0	1		UPI00004708DD	0	NA	ENST00000012134		ENSG00000010818	4921		36	0		HGNC	p.E270X		HIVEP2		SNV							ENST00000367603	protein_coding	getma.org/?cm=var&var=hg19,6,143095068,C,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53		E/*		A	NA	1353/9524		NA		B4DKE9_HUMAN				HIVEP2,stop_gained,p.Glu270Ter,ENST00000367603,NM_006734.3;HIVEP2,stop_gained,p.Glu270Ter,ENST00000367604,;HIVEP2,stop_gained,p.Glu270Ter,ENST00000012134,;							HIGH	808/7341	E270*	ZEP2_HUMAN			Transcript			.	ENSP00000012134		CCDS43510.1			1	
TICRR	0	LGGM	GRCh37	15	90167368	90167368	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	68	4	.	.	ENST00000268138.7:c.3827G>T	p.Arg1276Leu	p.R1276L	ENST00000268138		1276	cGg/cTg	0	1	1	UPI0000D61399	0	NA	ENST00000268138		ENSG00000140534	28704		72	0		HGNC	p.R1276L		TICRR		SNV							ENST00000268138	protein_coding	getma.org/?cm=var&var=hg19,15,90167368,G,T&fts=all		hmmpanther:PTHR21556		R/L		T	neutral	3932/6771		getma.org/?cm=msa&ty=f&p=TICRR_HUMAN&rb=1146&re=1345&var=R1276L	tolerated(0.06)				YES	TICRR,missense_variant,p.Arg1276Leu,ENST00000268138,;TICRR,missense_variant,p.Arg1275Leu,ENST00000560985,NM_152259.3;KIF7,downstream_gene_variant,,ENST00000394412,NM_198525.2;KIF7,intron_variant,,ENST00000558928,;TICRR,upstream_gene_variant,,ENST00000561095,;							MODERATE	3827/5733	R1276L	TICRR_HUMAN			Transcript		benign(0.054)	.	ENSP00000268138		CCDS10352.2			1	
MUC12	0	LGGM	GRCh37	7	100636079	100636079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	50	5	.	.	ENST00000536621.1:c.2235C>A	p.Ser745Arg	p.S745R	ENST00000536621	NM_001164462.1	745	agC/agA	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		55	0		HGNC	p.S745R		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100636079,C,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		S/R		A	neutral	2664/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=S888R						MUC12,missense_variant,p.Ser888Arg,ENST00000379442,;MUC12,missense_variant,p.Ser745Arg,ENST00000536621,NM_001164462.1;							MODERATE	2664/16437	S888R	MUC12_HUMAN			Transcript		benign(0.316)	.	ENSP00000368755					1	
ATP9A	0	LGGM	GRCh37	20	50235277	50235277	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	9	5	.	.	ENST00000338821.5:c.2274C>T	p.Cys758=	p.C758=	ENST00000338821	NM_006045.1	758	tgC/tgT	0	1	1	UPI000004D334	0		ENST00000338821		ENSG00000054793	13540		14			HGNC	p.C758C		ATP9A		SNV							ENST00000338821	protein_coding			Gene3D:3.40.50.1000,Pfam_domain:PF00702,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF49,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652		C		A		2539/8106				Q2NLD0_HUMAN,B4DR18_HUMAN			YES	ATP9A,synonymous_variant,p.=,ENST00000338821,NM_006045.1;ATP9A,synonymous_variant,p.=,ENST00000311637,;ATP9A,synonymous_variant,p.=,ENST00000402822,;							LOW	2274/3144		ATP9A_HUMAN			Transcript			.	ENSP00000342481		CCDS33489.1			1	
SEMA6A	0	LGGM	GRCh37	5	115823875	115823875	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	94	5	.	.	ENST00000343348.6:c.673G>T	p.Ala225Ser	p.A225S	ENST00000343348	NM_020796.3	225	Gcc/Tcc	0	1	1	UPI000020C463	0	getma.org/pdb.php?prot=SEM6A_HUMAN&from=56&to=491&var=A225S	ENST00000343348		ENSG00000092421	10738		99	0.56		HGNC	p.A225S		SEMA6A		SNV							ENST00000257414	protein_coding	getma.org/?cm=var&var=hg19,5,115823875,C,A&fts=all		Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036,PROSITE_profiles:PS51004		A/S		A	neutral	1461/6878		getma.org/?cm=msa&ty=f&p=SEM6A_HUMAN&rb=56&re=491&var=A225S	deleterious(0)	D6RCR0_HUMAN,D6RAG9_HUMAN			YES	SEMA6A,missense_variant,p.Ala225Ser,ENST00000343348,NM_020796.3;SEMA6A,missense_variant,p.Ala225Ser,ENST00000257414,;SEMA6A,missense_variant,p.Ala225Ser,ENST00000510263,;SEMA6A,downstream_gene_variant,,ENST00000515009,;CTB-118N6.3,intron_variant,,ENST00000514214,;CTB-118N6.3,intron_variant,,ENST00000508640,;CTB-118N6.3,intron_variant,,ENST00000510682,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000502996,;SEMA6A,downstream_gene_variant,,ENST00000503962,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000510024,;SEMA6A,upstream_gene_variant,,ENST00000503402,;							MODERATE	673/3093	A225S	SEM6A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345512		CCDS47256.1			1	
MLXIPL	0	LGGM	GRCh37	7	73021316	73021316	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	6	5	.	.	ENST00000313375.3:c.606G>T	p.Leu202=	p.L202=	ENST00000313375	NM_032953.2	202	ctG/ctT	0	1	1	UPI0000138F98	0		ENST00000313375		ENSG00000009950	12744		11			HGNC	p.L164L		MLXIPL		SNV							ENST00000456640	protein_coding			hmmpanther:PTHR15741:SF14,hmmpanther:PTHR15741		L		A		654/3278				S5LSP3_HUMAN			YES	MLXIPL,synonymous_variant,p.=,ENST00000313375,NM_032953.2,NM_032951.2;MLXIPL,synonymous_variant,p.=,ENST00000414749,;MLXIPL,synonymous_variant,p.=,ENST00000354613,NM_032954.2,NM_032952.2;MLXIPL,synonymous_variant,p.=,ENST00000429400,;MLXIPL,synonymous_variant,p.=,ENST00000456640,;MLXIPL,intron_variant,,ENST00000434326,;MLXIPL,intron_variant,,ENST00000395189,;MLXIPL,intron_variant,,ENST00000453275,;MLXIPL,synonymous_variant,p.=,ENST00000345114,;MLXIPL,non_coding_transcript_exon_variant,,ENST00000488212,;MLXIPL,upstream_gene_variant,,ENST00000476404,;							LOW	606/2559		MLXPL_HUMAN			Transcript			.	ENSP00000320886		CCDS5553.1			1	
SSRP1	0	LGGM	GRCh37	11	57099933	57099933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	61	5	.	.	ENST00000278412.2:c.796G>T	p.Gly266Cys	p.G266C	ENST00000278412	NM_003146.2	266	Ggc/Tgc	0	1	1	UPI000013601D	0	getma.org/pdb.php?prot=SSRP1_HUMAN&from=74&to=285&var=G266C	ENST00000278412		ENSG00000149136	11327		66	3.445		HGNC	p.G169C		SSRP1		SNV							ENST00000526696	protein_coding	getma.org/?cm=var&var=hg19,11,57099933,C,A&fts=all		Pfam_domain:PF03531,Prints_domain:PR00887,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF2,Superfamily_domains:SSF50729		G/C		A	medium	1063/2819		getma.org/?cm=msa&ty=f&p=SSRP1_HUMAN&rb=74&re=285&var=G266C	deleterious(0)	E9PPZ7_HUMAN,E9PMD4_HUMAN			YES	SSRP1,missense_variant,p.Gly266Cys,ENST00000278412,NM_003146.2;SSRP1,missense_variant,p.Gly169Cys,ENST00000526696,;SSRP1,downstream_gene_variant,,ENST00000529002,;snoU13,upstream_gene_variant,,ENST00000459327,;RP11-872D17.4,downstream_gene_variant,,ENST00000534162,;SSRP1,non_coding_transcript_exon_variant,,ENST00000293880,;							MODERATE	796/2130	G266C	SSRP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000278412		CCDS7952.1			1	
IKBKB	0	LGGM	GRCh37	8	42173768	42173768	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	16	5	.	.	ENST00000520810.1:c.841C>T	p.Leu281=	p.L281=	ENST00000520810	NM_001556.2	281	Ctg/Ttg	0	1	1	UPI0000033729	0		ENST00000520810		ENSG00000104365	5960		21			HGNC	p.L281L		IKBKB		SNV			1				ENST00000520655	protein_coding			Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR22969:SF7,hmmpanther:PTHR22969,PROSITE_profiles:PS50011		L		T		1027/3086				E5RGW5_HUMAN			YES	IKBKB,synonymous_variant,p.=,ENST00000520810,NM_001556.2;IKBKB,synonymous_variant,p.=,ENST00000379708,;IKBKB,synonymous_variant,p.=,ENST00000416505,NM_001242778.1;IKBKB,synonymous_variant,p.=,ENST00000520835,NM_001190720.2;IKBKB,intron_variant,,ENST00000522147,;IKBKB,upstream_gene_variant,,ENST00000522785,;IKBKB,upstream_gene_variant,,ENST00000517502,;IKBKB,synonymous_variant,p.=,ENST00000520655,;IKBKB,synonymous_variant,p.=,ENST00000523517,;IKBKB,synonymous_variant,p.=,ENST00000521661,;IKBKB,3_prime_UTR_variant,,ENST00000342222,;IKBKB,3_prime_UTR_variant,,ENST00000518679,;IKBKB,3_prime_UTR_variant,,ENST00000517890,;IKBKB,3_prime_UTR_variant,,ENST00000523105,;IKBKB,non_coding_transcript_exon_variant,,ENST00000520201,;IKBKB,non_coding_transcript_exon_variant,,ENST00000517917,;IKBKB,non_coding_transcript_exon_variant,,ENST00000518647,;IKBKB,non_coding_transcript_exon_variant,,ENST00000522545,;IKBKB,upstream_gene_variant,,ENST00000519938,;							LOW	841/2271		IKKB_HUMAN			Transcript			.	ENSP00000430684		CCDS6128.1			1	
DNAH14	0	LGGM	GRCh37	1	225394783	225394783	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	101	6	.	.	ENST00000430092.1:c.6234C>A	p.Val2078=	p.V2078=	ENST00000430092	NM_001373.1	2078	gtC/gtA	0	1		UPI0001642868	0		ENST00000445597		ENSG00000185842	2945		107			HGNC	p.V1673V		DNAH14		SNV							ENST00000445597	protein_coding			hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676		V		A		5019/10524				C9JU64_HUMAN				DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;							LOW	5019/10524		DYH14_HUMAN			Transcript			.	ENSP00000409472					1	
DYM	0	LGGM	GRCh37	18	46956740	46956740	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	96	6	.	.	ENST00000269445.6:c.25G>A	p.Gly9Ser	p.G9S	ENST00000269445	NM_017653.3	9	Ggc/Agc	0	1	1	UPI00001AE953	0	NA	ENST00000269445		ENSG00000141627	21317		102	-1.52		HGNC	p.G9S	rs776863478	DYM		SNV			1				ENST00000583353	protein_coding	getma.org/?cm=var&var=hg19,18,46956740,C,T&fts=all		hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742		G/S		T	neutral	483/2703	4.50E-05	getma.org/?cm=msa&ty=f&p=DYM_HUMAN&rb=1&re=646&var=G9S	tolerated(1)	J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN			YES	DYM,missense_variant,p.Gly9Ser,ENST00000269445,NM_017653.3;DYM,missense_variant,p.Gly9Ser,ENST00000442713,;DYM,missense_variant,p.Gly9Ser,ENST00000583353,;RP11-110H1.9,downstream_gene_variant,,ENST00000583579,;DYM,non_coding_transcript_exon_variant,,ENST00000584977,;DYM,non_coding_transcript_exon_variant,,ENST00000582095,;DYM,non_coding_transcript_exon_variant,,ENST00000581409,;DYM,non_coding_transcript_exon_variant,,ENST00000577481,;DYM,non_coding_transcript_exon_variant,,ENST00000577836,;DYM,missense_variant,p.Gly9Ser,ENST00000579058,;							MODERATE	25/2010	G9S	DYM_HUMAN			Transcript		benign(0)	.	ENSP00000269445	2.47E-05	CCDS11937.1			1	
DPP8	0	LGGM	GRCh37	15	65793065	65793065	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	96	7	.	.	ENST00000341861.5:c.473G>C	p.Arg158Thr	p.R158T	ENST00000341861	NM_197960.2	158	aGa/aCa	0	1	1	UPI00001BFAFE	0	NA	ENST00000341861		ENSG00000074603	16490		103	2.2		HGNC	p.R158T		DPP8		SNV							ENST00000321118	protein_coding	getma.org/?cm=var&var=hg19,15,65793065,C,G&fts=all		Gene3D:2.140.10.30,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF98,Low_complexity_(Seg):seg,Superfamily_domains:SSF82171		R/T		G	medium	2054/8699		getma.org/?cm=msa&ty=f&p=DPP8_HUMAN&rb=1&re=172&var=R158T	deleterious(0)	H0YN53_HUMAN,H0YMV1_HUMAN			YES	DPP8,missense_variant,p.Arg158Thr,ENST00000341861,NM_197960.2;DPP8,missense_variant,p.Arg142Thr,ENST00000300141,NM_130434.3;DPP8,missense_variant,p.Arg158Thr,ENST00000321147,NM_197961.2;DPP8,missense_variant,p.Arg158Thr,ENST00000321118,;DPP8,missense_variant,p.Arg158Thr,ENST00000559233,;DPP8,missense_variant,p.Arg142Thr,ENST00000358939,NM_017743.4;DPP8,missense_variant,p.Arg158Thr,ENST00000339244,;DPP8,missense_variant,p.Arg152Thr,ENST00000558529,;DPP8,intron_variant,,ENST00000559526,;Y_RNA,upstream_gene_variant,,ENST00000516408,;DPP8,missense_variant,p.Arg158Thr,ENST00000395652,;							MODERATE	473/2697	R158T	DPP8_HUMAN			Transcript		benign(0.168)	.	ENSP00000339208		CCDS10207.1			1	
C19orf35	0	LGGM	GRCh37	19	2278587	2278587	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	4	7	.	.	ENST00000342063.3:c.608C>T	p.Ala203Val	p.A203V	ENST00000342063	NM_198532.2	203	gCc/gTc	0	1	1	UPI00001C0E91	0	NA	ENST00000342063		ENSG00000188305	24793		11	0.865		HGNC	p.A203V		C19orf35		SNV							ENST00000342063	protein_coding	getma.org/?cm=var&var=hg19,19,2278587,G,A&fts=all		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF6		A/V		A	low	702/2564		getma.org/?cm=msa&ty=f&p=CS035_HUMAN&rb=201&re=400&var=A203V	deleterious(0)				YES	C19orf35,missense_variant,p.Ala203Val,ENST00000342063,NM_198532.2;C19orf35,intron_variant,,ENST00000590316,;							MODERATE	608/1422	A203V	CS035_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345102		CCDS12087.1			1	
TMPPE	0	LGGM	GRCh37	3	33134327	33134327	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	8	.	.	ENST00000342462.4:c.1361G>T	p.Ter454LeuextTer75	p.*454Lext*75	ENST00000342462	NM_001039770.2	454	tGa/tTa	0	1	1	UPI000022BF97	0		ENST00000342462		ENSG00000188167	33865		18			HGNC	p.X454L		TMPPE		SNV							ENST00000342462	protein_coding					*/L		A		1552/3962							YES	TMPPE,stop_lost,p.Ter454LeuextTer75,ENST00000342462,NM_001039770.2;TMPPE,stop_lost,p.Ter317LeuextTer75,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,;							HIGH	1361/1362		TMPPE_HUMAN			Transcript			.	ENSP00000343398		CCDS33732.1			1	
STAT6	0	LGGM	GRCh37	12	57493650	57493650	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	7	8	.	.	ENST00000300134.3:c.1644T>C	p.Thr548=	p.T548=	ENST00000300134	NM_001178078.1	548	acT/acC	0	1	1	UPI00000473FE	0		ENST00000300134		ENSG00000166888	11368		15			HGNC	p.T548T		STAT6		SNV			1				ENST00000454075	protein_coding			PROSITE_profiles:PS50001,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF45,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550		T		G		1970/4034				Q6LCD8_HUMAN,Q5FBW6_HUMAN,G3V5K5_HUMAN,G3V568_HUMAN,G3V3E9_HUMAN,G3V370_HUMAN,G3V2X7_HUMAN,G3V2M3_HUMAN,G3V2L2_HUMAN,G3V2H4_HUMAN			YES	STAT6,synonymous_variant,p.=,ENST00000300134,NM_001178078.1,NM_003153.4;STAT6,synonymous_variant,p.=,ENST00000543873,NM_001178079.1;STAT6,synonymous_variant,p.=,ENST00000454075,;STAT6,synonymous_variant,p.=,ENST00000556155,;STAT6,synonymous_variant,p.=,ENST00000537215,NM_001178080.1;STAT6,synonymous_variant,p.=,ENST00000538913,NM_001178081.1;STAT6,synonymous_variant,p.=,ENST00000553533,;STAT6,synonymous_variant,p.=,ENST00000555375,;NAB2,downstream_gene_variant,,ENST00000300131,NM_005967.3;NAB2,downstream_gene_variant,,ENST00000357680,;NAB2,downstream_gene_variant,,ENST00000342556,;STAT6,upstream_gene_variant,,ENST00000555318,;STAT6,3_prime_UTR_variant,,ENST00000554764,;STAT6,non_coding_transcript_exon_variant,,ENST00000555222,;STAT6,downstream_gene_variant,,ENST00000555641,;STAT6,downstream_gene_variant,,ENST00000557781,;STAT6,upstream_gene_variant,,ENST00000557563,;STAT6,upstream_gene_variant,,ENST00000554202,;							LOW	1644/2544		STAT6_HUMAN			Transcript			.	ENSP00000300134		CCDS8931.1			1	
DVL1	0	LGGM	GRCh37	1	1273786	1273786	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	8	.	.	ENST00000378891.5:c.1295A>G	p.His432Arg	p.H432R	ENST00000378891	NM_004421.2	432	cAc/cGc	0	1		UPI00001AF922	0	getma.org/pdb.php?prot=DVL1L_HUMAN&from=403&to=472&var=H432R	ENST00000378888		ENSG00000107404	3084		18	1.725		HGNC	p.H457R		DVL1		SNV			1				ENST00000378888	protein_coding	getma.org/?cm=var&var=hg19,1,1273786,T,C&fts=all		PROSITE_profiles:PS50186,hmmpanther:PTHR10878,hmmpanther:PTHR10878:SF5,Pfam_domain:PF00610,Gene3D:1.10.10.10,SMART_domains:SM00049,Superfamily_domains:SSF46785,Prints_domain:PR01760		H/R		C	low	1655/3239		getma.org/?cm=msa&ty=f&p=DVL1L_HUMAN&rb=403&re=472&var=H432R	tolerated(0.17)	B7Z6B5_HUMAN				DVL1,missense_variant,p.His457Arg,ENST00000378888,;DVL1,missense_variant,p.His432Arg,ENST00000378891,NM_004421.2;TAS1R3,downstream_gene_variant,,ENST00000339381,NM_152228.1;DVL1,downstream_gene_variant,,ENST00000472445,;							MODERATE	1370/2088	H432R	DVL1_HUMAN			Transcript		benign(0.097)	.	ENSP00000368166					1	
RHPN2	0	LGGM	GRCh37	19	33498929	33498929	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	9	.	.	ENST00000254260.3:c.751A>C	p.Arg251=	p.R251=	ENST00000254260	NM_033103.4	251	Aga/Cga	0	1	1	UPI00000747A3	0		ENST00000254260		ENSG00000131941	19974		19			HGNC	p.R100R		RHPN2		SNV							ENST00000400226	protein_coding			Gene3D:2xs1A01,Pfam_domain:PF03097,PROSITE_profiles:PS51180,hmmpanther:PTHR23031,hmmpanther:PTHR23031:SF5,SMART_domains:SM01041		R		G		787/3500				B4DUS7_HUMAN,B3KX27_HUMAN			YES	RHPN2,synonymous_variant,p.=,ENST00000254260,NM_033103.4;RHPN2,synonymous_variant,p.=,ENST00000400226,;RHPN2,3_prime_UTR_variant,,ENST00000588388,;RHPN2,non_coding_transcript_exon_variant,,ENST00000544458,;							LOW	751/2061		RHPN2_HUMAN			Transcript			.	ENSP00000254260		CCDS12427.1			1	
PPFIA1	0	LGGM	GRCh37	11	70208208	70208208	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	12	9	.	.	ENST00000253925.7:c.2590T>G	p.Leu864Val	p.L864V	ENST00000253925	NM_003626.3	864	Ttg/Gtg	0	1	1	UPI0000072426	0	NA	ENST00000253925		ENSG00000131626	9245		21	2.74		HGNC	p.L864V		PPFIA1		SNV							ENST00000389547	protein_coding	getma.org/?cm=var&var=hg19,11,70208208,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15		L/V		G	medium	2805/5234		getma.org/?cm=msa&ty=f&p=LIPA1_HUMAN&rb=824&re=905&var=L864V	deleterious(0.01)	E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN			YES	PPFIA1,missense_variant,p.Leu864Val,ENST00000253925,NM_003626.3;PPFIA1,missense_variant,p.Leu864Val,ENST00000389547,NM_177423.2;PPFIA1,missense_variant,p.Leu307Val,ENST00000528750,;AP000487.6,intron_variant,,ENST00000528607,;AP000487.4,upstream_gene_variant,,ENST00000324630,;PPFIA1,upstream_gene_variant,,ENST00000530548,;PPFIA1,3_prime_UTR_variant,,ENST00000532504,;PPFIA1,3_prime_UTR_variant,,ENST00000526262,;PPFIA1,3_prime_UTR_variant,,ENST00000530390,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000527612,;PPFIA1,upstream_gene_variant,,ENST00000532793,;							MODERATE	2590/3609	L864V	LIPA1_HUMAN			Transcript		benign(0.301)	.	ENSP00000253925		CCDS31627.1			1	
PACSIN2	0	LGGM	GRCh37	22	43308086	43308086	+	start_lost	Translation_Start_Site	SNP	T	T	G	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	26	9	.	.	ENST00000263246.3:c.1A>C	p.Met1?	p.M1?	ENST00000263246	NM_001184970.1	1	Atg/Ctg	0	1	1	UPI00001311CA	0	NA	ENST00000263246		ENSG00000100266	8571		35	0		HGNC	p.M1L		PACSIN2		SNV							ENST00000453079	protein_coding	getma.org/?cm=var&var=hg19,22,43308086,T,G&fts=all		hmmpanther:PTHR10959:SF2,hmmpanther:PTHR10959		M/L		G	NA	203/3249		http://getma.org/?cm=msa&ty=f&p=PACN2_HUMAN&rb=1&re=45&var=M1L	deleterious(0.01)	B0QYG9_HUMAN,B0QYG7_HUMAN			YES	PACSIN2,start_lost,p.Met1?,ENST00000263246,NM_001184970.1;PACSIN2,start_lost,p.Met1?,ENST00000337959,;PACSIN2,start_lost,p.Met1?,ENST00000407585,NM_001184971.1;PACSIN2,start_lost,p.Met1?,ENST00000403744,NM_007229.3;PACSIN2,start_lost,p.Met1?,ENST00000402229,;PACSIN2,start_lost,p.Met1?,ENST00000453643,;PACSIN2,start_lost,p.Met1?,ENST00000422336,;PACSIN2,start_lost,p.Met1?,ENST00000418133,;PACSIN2,start_lost,p.Met1?,ENST00000453079,;PACSIN2,start_lost,p.Met1?,ENST00000445706,;							HIGH	1/1461	M1L	PACN2_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000263246		CCDS43023.1			1	
PLG	0	LGGM	GRCh37	6	161173984	161173984	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	8	10	.	.	ENST00000308192.9:c.2324A>G	p.Gln775Arg	p.Q775R	ENST00000308192	NM_000301.3	775	cAa/cGa	0	1	1	UPI000000D8B8	0	getma.org/pdb.php?prot=PLMN_HUMAN&from=581&to=803&var=Q775R	ENST00000308192		ENSG00000122194	9071		18	0.865		HGNC	p.Q775R		PLG		SNV			1				ENST00000308192	protein_coding	getma.org/?cm=var&var=hg19,6,161173984,A,G&fts=all		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		Q/R		G	low	2387/2741		getma.org/?cm=msa&ty=f&p=PLMN_HUMAN&rb=581&re=803&var=Q775R	tolerated(0.05)	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN			YES	PLG,missense_variant,p.Gln775Arg,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000461414,;PLG,downstream_gene_variant,,ENST00000467466,;							MODERATE	2324/2433	Q775R	PLMN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000308938		CCDS5279.1			1	
NR1D2	0	LGGM	GRCh37	3	24003845	24003845	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	18	11	.	.	ENST00000312521.4:c.895G>T	p.Asp299Tyr	p.D299Y	ENST00000312521	NM_005126.4	299	Gat/Tat	0	1	1	UPI0000209A6C	0	NA	ENST00000312521		ENSG00000174738	7963		29	1.1		HGNC	p.D299Y		NR1D2		SNV							ENST00000312521	protein_coding	getma.org/?cm=var&var=hg19,3,24003845,G,T&fts=all		hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF112		D/Y		T	low	1214/5258		getma.org/?cm=msa&ty=f&p=NR1D2_HUMAN&rb=172&re=371&var=D299Y	deleterious(0.02)				YES	NR1D2,missense_variant,p.Asp299Tyr,ENST00000312521,NM_005126.4,NM_001145425.1;NR1D2,non_coding_transcript_exon_variant,,ENST00000492552,;NR1D2,missense_variant,p.Asp299Tyr,ENST00000383773,;NR1D2,downstream_gene_variant,,ENST00000468700,;NR1D2,upstream_gene_variant,,ENST00000472780,;							MODERATE	895/1740	D299Y	NR1D2_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000310006		CCDS33718.1			1	
CYP3A5	0	LGGM	GRCh37	7	99250184	99250184	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	11	.	.	ENST00000222982.4:c.1245C>T	p.Arg415=	p.R415=	ENST00000222982	NM_000777.3	415	cgC/cgT	0	1	1	UPI000000163D	0		ENST00000222982		ENSG00000106258	2638		55			HGNC	p.R405R		CYP3A5		SNV			1				ENST00000343703	protein_coding			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24302,hmmpanther:PTHR24302:SF3,Superfamily_domains:SSF48264		R		A		1345/1720				Q96RK6_HUMAN,Q7Z447_HUMAN,Q7Z446_HUMAN			YES	CYP3A5,synonymous_variant,p.=,ENST00000343703,;CYP3A5,synonymous_variant,p.=,ENST00000222982,NM_000777.3;CYP3A5,3_prime_UTR_variant,,ENST00000339843,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000469887,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000461920,;CYP3A5,non_coding_transcript_exon_variant,,ENST00000488187,;							LOW	1245/1509		CP3A5_HUMAN			Transcript			.	ENSP00000222982		CCDS5672.1			1	
TP53	0	LGGM	GRCh37	17	7578266	7578266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	6	14	.	.	ENST00000269305.4:c.583A>T	p.Ile195Phe	p.I195F	ENST00000269305	NM_001126112.2	195	Atc/Ttc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=I195F	ENST00000269305		ENSG00000141510	11998		20	2.735		HGNC	p.I195F	TP53_g.12652A>T,COSM44633,COSM129840,COSM129841,COSM129843,COSM3388199,COSM1731912,COSM129842	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578266,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		I/F		A	medium	773/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=I195F	deleterious(0)	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			YES	TP53,missense_variant,p.Ile195Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ile195Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ile195Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ile195Phe,ENST00000445888,;TP53,missense_variant,p.Ile195Phe,ENST00000359597,;TP53,missense_variant,p.Ile195Phe,ENST00000413465,;TP53,missense_variant,p.Ile63Phe,ENST00000509690,;TP53,missense_variant,p.Ile102Phe,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,;					0,1,1,1,1,1,1,1		MODERATE	583/1182	I195F	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
INPPL1	0	LGGM	GRCh37	11	71940218	71940218	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	12	.	.	ENST00000298229.2:c.603C>T	p.Ala201=	p.A201=	ENST00000298229	NM_001567.3	201	gcC/gcT	0	1	1	UPI000013E4AF	0		ENST00000298229		ENSG00000165458	6080		22			HGNC	p.A201A		INPPL1		SNV			1				ENST00000298229	protein_coding			hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15		A		T		807/4733				H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN			YES	INPPL1,synonymous_variant,p.=,ENST00000298229,NM_001567.3;INPPL1,5_prime_UTR_variant,,ENST00000541756,;INPPL1,5_prime_UTR_variant,,ENST00000538751,;INPPL1,5_prime_UTR_variant,,ENST00000540329,;INPPL1,5_prime_UTR_variant,,ENST00000537656,;INPPL1,downstream_gene_variant,,ENST00000540973,;INPPL1,downstream_gene_variant,,ENST00000543234,;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,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000542295,;							LOW	603/3777		SHIP2_HUMAN			Transcript			.	ENSP00000298229		CCDS8213.1			1	
LRP4	0	LGGM	GRCh37	11	46905434	46905434	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	20	12	.	.	ENST00000378623.1:c.2600A>T	p.Glu867Val	p.E867V	ENST00000378623	NM_002334.3	867	gAa/gTa	0	1	1	UPI0000D625E9	0	getma.org/pdb.php?prot=LRP4_HUMAN&from=867&to=870&var=E867V	ENST00000378623		ENSG00000134569	6696		32	-0.075		HGNC	p.E867V		LRP4		SNV			1				ENST00000378623	protein_coding	getma.org/?cm=var&var=hg19,11,46905434,T,A&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825		E/V		A	neutral	2843/8076		getma.org/?cm=msa&ty=f&p=LRP4_HUMAN&rb=837&re=900&var=E867V	deleterious(0)				YES	LRP4,missense_variant,p.Glu867Val,ENST00000378623,NM_002334.3;LRP4,downstream_gene_variant,,ENST00000529921,;							MODERATE	2600/5718	E867V	LRP4_HUMAN			Transcript		benign(0.105)	.	ENSP00000367888		CCDS31478.1			1	
WDR96	0	LGGM	GRCh37	10	105905240	105905240	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	12	.	.	ENST00000357060.3:c.3938G>A	p.Arg1313Gln	p.R1313Q	ENST00000357060	NM_025145.5	1313	cGa/cAa	0	1	1	UPI0000D60FC7	0	NA	ENST00000357060		ENSG00000197748	26684		33	2.6		HGNC	p.R1285Q	rs760619796	WDR96		SNV							ENST00000428666	protein_coding	getma.org/?cm=var&var=hg19,10,105905240,C,T&fts=all		hmmpanther:PTHR14885		R/Q		T	medium	4054/5365	1.58E-05	getma.org/?cm=msa&ty=f&p=WDR96_HUMAN&rb=1201&re=1400&var=R1313Q	deleterious(0)				YES	WDR96,missense_variant,p.Arg1313Gln,ENST00000357060,NM_025145.5;WDR96,missense_variant,p.Arg1285Gln,ENST00000428666,;WDR96,missense_variant,p.Arg645Gln,ENST00000434629,;WDR96,missense_variant,p.Arg162Gln,ENST00000457071,;WDR96,upstream_gene_variant,,ENST00000479392,;	0.00109						MODERATE	3938/4998	R1313Q	WDR96_HUMAN			Transcript		probably_damaging(1)	common_variant	ENSP00000349568	8.24E-05	CCDS31281.1			1	
SIT1	0	LGGM	GRCh37	9	35650629	35650629	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	20	13	.	.	ENST00000259608.3:c.106C>A	p.Pro36Thr	p.P36T	ENST00000259608	NM_014450.2	36	Ccc/Acc	0	1	1	UPI0000073C61	0	NA	ENST00000259608		ENSG00000137078	17710		33	1.04		HGNC	p.P36T		SIT1		SNV							ENST00000259608	protein_coding	getma.org/?cm=var&var=hg19,9,35650629,G,T&fts=all		hmmpanther:PTHR15604		P/T		T	low	193/1231		getma.org/?cm=msa&ty=f&p=SIT1_HUMAN&rb=28&re=194&var=P36T	deleterious(0.02)				YES	SIT1,missense_variant,p.Pro36Thr,ENST00000259608,NM_014450.2;RP11-331F9.4,downstream_gene_variant,,ENST00000428948,;SIT1,intron_variant,,ENST00000474403,;SIT1,upstream_gene_variant,,ENST00000486859,;CD72,upstream_gene_variant,,ENST00000465754,;							MODERATE	106/591	P36T	SIT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000259608		CCDS6582.1			1	
KMT2D	0	LGGM	GRCh37	12	49433247	49433247	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	14	.	.	ENST00000301067.7:c.8200C>T	p.Arg2734Ter	p.R2734*	ENST00000301067	NM_003482.3	2734	Cga/Tga	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		35	0		HGNC	p.R2734X	COSM1717602,COSM1717601	KMT2D		SNV			1			1,1	ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49433247,G,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324		R/*		A	NA	8200/19419		NA		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,stop_gained,p.Arg2734Ter,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,upstream_gene_variant,,ENST00000549799,;KMT2D,downstream_gene_variant,,ENST00000550356,;					1,1		HIGH	8200/16614	R2734*	KMT2D_HUMAN			Transcript			.	ENSP00000301067		CCDS44873.1			1	
TRIM55	0	LGGM	GRCh37	8	67066520	67066520	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	17	15	.	.	ENST00000315962.4:c.1475G>A	p.Arg492Lys	p.R492K	ENST00000315962	NM_184085.1	492	aGg/aAg	0	1	1	UPI00001CE3B7	0	NA	ENST00000315962		ENSG00000147573	14215		32	0.695		HGNC	p.R492K		TRIM55		SNV							ENST00000276573	protein_coding	getma.org/?cm=var&var=hg19,8,67066520,G,A&fts=all		Low_complexity_(Seg):seg		R/K		A	neutral	1848/2912		getma.org/?cm=msa&ty=f&p=TRI55_HUMAN&rb=396&re=506&var=R492K	tolerated_low_confidence(0.17)				YES	TRIM55,missense_variant,p.Arg492Lys,ENST00000315962,NM_184085.1;TRIM55,missense_variant,p.Arg492Lys,ENST00000276573,NM_033058.2;TRIM55,intron_variant,,ENST00000353317,NM_184086.1;TRIM55,intron_variant,,ENST00000350034,NM_184087.1;TRIM55,intron_variant,,ENST00000517647,;							MODERATE	1475/1647	R492K	TRI55_HUMAN			Transcript		benign(0.002)	.	ENSP00000323913		CCDS6184.1			1	
EIF4G1	0	LGGM	GRCh37	3	184046768	184046768	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	9	16	.	.	ENST00000424196.1:c.4172G>T	p.Cys1391Phe	p.C1391F	ENST00000424196		1391	tGc/tTc	0	1		UPI00003671E5	0	getma.org/pdb.php?prot=IF4G1_HUMAN&from=1355&to=1517&var=C1384F	ENST00000346169		ENSG00000114867	3296		25	2.48		HGNC	p.C1391F		EIF4G1		SNV			1				ENST00000424196	protein_coding	getma.org/?cm=var&var=hg19,3,184046768,G,T&fts=all		Gene3D:1.25.40.180,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,Superfamily_domains:SSF48371		C/F		T	medium	4422/5516		getma.org/?cm=msa&ty=f&p=IF4G1_HUMAN&rb=1355&re=1517&var=C1384F	deleterious(0)	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN				EIF4G1,missense_variant,p.Cys1385Phe,ENST00000342981,NM_182917.4;EIF4G1,missense_variant,p.Cys1391Phe,ENST00000424196,;EIF4G1,missense_variant,p.Cys1384Phe,ENST00000319274,;EIF4G1,missense_variant,p.Cys1344Phe,ENST00000414031,;EIF4G1,missense_variant,p.Cys1384Phe,ENST00000346169,NM_198241.2;EIF4G1,missense_variant,p.Cys1297Phe,ENST00000392537,NM_198244.2;EIF4G1,missense_variant,p.Cys1391Phe,ENST00000382330,NM_001194946.1;EIF4G1,missense_variant,p.Cys1298Phe,ENST00000427845,;EIF4G1,missense_variant,p.Cys1189Phe,ENST00000434061,NM_004953.4;EIF4G1,missense_variant,p.Cys1220Phe,ENST00000350481,NM_198242.2;EIF4G1,missense_variant,p.Cys1391Phe,ENST00000352767,NM_001194947.1;EIF4G1,missense_variant,p.Cys1345Phe,ENST00000411531,;EIF4G1,missense_variant,p.Cys1188Phe,ENST00000435046,;EIF4G1,missense_variant,p.Cys1221Phe,ENST00000441154,;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,,ENST00000448284,;SNORD66,downstream_gene_variant,,ENST00000390856,NR_003055.1;EIF4G1,missense_variant,p.Cys85Phe,ENST00000422614,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000460829,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000475721,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000464548,;EIF4G1,downstream_gene_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000466311,;EIF4G1,upstream_gene_variant,,ENST00000478291,;EIF4G1,downstream_gene_variant,,ENST00000482303,;							MODERATE	4151/4800	C1384F	IF4G1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000316879		CCDS3259.1			1	
CHAF1B	0	LGGM	GRCh37	21	37758546	37758546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	5	16	.	.	ENST00000314103.5:c.112G>A	p.Asp38Asn	p.D38N	ENST00000314103	NM_005441.2	38	Gac/Aac	0	1	1	UPI0000126DD1	0	NA	ENST00000314103		ENSG00000159259	1911	8.65E-05	21	3.485		HGNC	p.D38N	rs761186456,COSM1534724	CHAF1B	0.000182	SNV						0,1	ENST00000314103	protein_coding	getma.org/?cm=var&var=hg19,21,37758546,G,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR15271,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/N		A	medium	263/4480		getma.org/?cm=msa&ty=f&p=CAF1B_HUMAN&rb=10&re=45&var=D38N	deleterious(0)				YES	CHAF1B,missense_variant,p.Asp38Asn,ENST00000314103,NM_005441.2;CHAF1B,non_coding_transcript_exon_variant,,ENST00000480486,;MORC3,downstream_gene_variant,,ENST00000547657,;MORC3,downstream_gene_variant,,ENST00000551367,;MORC3,downstream_gene_variant,,ENST00000546482,;MORC3,downstream_gene_variant,,ENST00000549948,;MORC3,downstream_gene_variant,,ENST00000552581,;MORC3,downstream_gene_variant,,ENST00000551788,;ATP5J2LP,downstream_gene_variant,,ENST00000444161,;					0,1		MODERATE	112/1680	D38N	CAF1B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000315700	3.29E-05	CCDS13644.1			1	
EIF4G1	0	LGGM	GRCh37	3	184046769	184046769	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	16	.	.	ENST00000424196.1:c.4173C>A	p.Cys1391Ter	p.C1391*	ENST00000424196		1391	tgC/tgA	0	1		UPI00003671E5	0	NA	ENST00000346169		ENSG00000114867	3296		26	0		HGNC	p.C1391X		EIF4G1		SNV			1				ENST00000424196	protein_coding	getma.org/?cm=var&var=hg19,3,184046769,C,A&fts=all		Gene3D:1.25.40.180,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,Superfamily_domains:SSF48371		C/*		A	NA	4423/5516		NA		Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN				EIF4G1,stop_gained,p.Cys1385Ter,ENST00000342981,NM_182917.4;EIF4G1,stop_gained,p.Cys1391Ter,ENST00000424196,;EIF4G1,stop_gained,p.Cys1384Ter,ENST00000319274,;EIF4G1,stop_gained,p.Cys1344Ter,ENST00000414031,;EIF4G1,stop_gained,p.Cys1384Ter,ENST00000346169,NM_198241.2;EIF4G1,stop_gained,p.Cys1297Ter,ENST00000392537,NM_198244.2;EIF4G1,stop_gained,p.Cys1391Ter,ENST00000382330,NM_001194946.1;EIF4G1,stop_gained,p.Cys1298Ter,ENST00000427845,;EIF4G1,stop_gained,p.Cys1189Ter,ENST00000434061,NM_004953.4;EIF4G1,stop_gained,p.Cys1220Ter,ENST00000350481,NM_198242.2;EIF4G1,stop_gained,p.Cys1391Ter,ENST00000352767,NM_001194947.1;EIF4G1,stop_gained,p.Cys1345Ter,ENST00000411531,;EIF4G1,stop_gained,p.Cys1188Ter,ENST00000435046,;EIF4G1,stop_gained,p.Cys1221Ter,ENST00000441154,;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,,ENST00000448284,;SNORD66,downstream_gene_variant,,ENST00000390856,NR_003055.1;EIF4G1,stop_gained,p.Cys85Ter,ENST00000422614,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000460829,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000475721,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000464548,;EIF4G1,downstream_gene_variant,,ENST00000413967,;EIF4G1,downstream_gene_variant,,ENST00000466311,;EIF4G1,upstream_gene_variant,,ENST00000478291,;EIF4G1,downstream_gene_variant,,ENST00000482303,;							HIGH	4152/4800	C1384*	IF4G1_HUMAN			Transcript			.	ENSP00000316879		CCDS3259.1			1	
ITCH	0	LGGM	GRCh37	20	33027969	33027969	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	25	17	.	.	ENST00000262650.6:c.812A>G	p.Asn271Ser	p.N271S	ENST00000262650		271	aAt/aGt	0	1	1	UPI00000731C2	0	NA	ENST00000262650		ENSG00000078747	13890		42	0.345		HGNC	p.N120S	rs371132495	ITCH		SNV	G:0		1				ENST00000535650	protein_coding	getma.org/?cm=var&var=hg19,20,33027969,A,G&fts=all		PIRSF_domain:PIRSF001569,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66		N/S	G:0.0001	G	neutral	948/3089		getma.org/?cm=msa&ty=f&p=ITCH_HUMAN&rb=211&re=279&var=N271S	tolerated(0.44)				YES	ITCH,missense_variant,p.Asn230Ser,ENST00000374864,NM_001257137.1,NM_031483.5,NM_001257138.1;ITCH,missense_variant,p.Asn271Ser,ENST00000262650,;ITCH,missense_variant,p.Asn120Ser,ENST00000535650,;ITCH-AS1,downstream_gene_variant,,ENST00000454205,;	0.000232						MODERATE	812/2712	N271S	ITCH_HUMAN			Transcript		benign(0.002)	.	ENSP00000262650	2.47E-05	CCDS58768.1	0.0011		1	
TROAP	0	LGGM	GRCh37	12	49724381	49724381	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	21	19	.	.	ENST00000257909.3:c.1753G>A	p.Glu585Lys	p.E585K	ENST00000257909	NM_005480.3	585	Gaa/Aaa	0	1	1	UPI000007108A	0	NA	ENST00000257909		ENSG00000135451	12327		40	1.445		HGNC	p.E585K		TROAP		SNV							ENST00000551245	protein_coding	getma.org/?cm=var&var=hg19,12,49724381,G,A&fts=all		hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3,Low_complexity_(Seg):seg		E/K		A	low	1829/2527		getma.org/?cm=msa&ty=f&p=TROAP_HUMAN&rb=1&re=777&var=E585K	deleterious_low_confidence(0.04)	F8W052_HUMAN			YES	TROAP,missense_variant,p.Glu585Lys,ENST00000551245,;TROAP,missense_variant,p.Glu585Lys,ENST00000257909,NM_005480.3;TROAP,intron_variant,,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000548817,;							MODERATE	1753/2337	E585K	TROAP_HUMAN			Transcript		possibly_damaging(0.54)	.	ENSP00000257909		CCDS8784.1			1	
COL5A2	0	LGGM	GRCh37	2	189917650	189917650	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	24	20	.	.	ENST00000374866.3:c.2648C>G	p.Ser883Cys	p.S883C	ENST00000374866	NM_000393.3	883	tCc/tGc	0	1	1	UPI00006C511C	0	NA	ENST00000374866		ENSG00000204262	2210		44	2.215		HGNC	p.S883C		COL5A2		SNV			1				ENST00000374866	protein_coding	getma.org/?cm=var&var=hg19,2,189917650,G,C&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481		S/C		C	medium	2923/6949		getma.org/?cm=msa&ty=f&p=CO5A2_HUMAN&rb=834&re=904&var=S883C		D3DPH5_HUMAN			YES	COL5A2,missense_variant,p.Ser883Cys,ENST00000374866,NM_000393.3;COL5A2,downstream_gene_variant,,ENST00000470524,;							MODERATE	2648/4500	S883C	CO5A2_HUMAN			Transcript		unknown(0)	.	ENSP00000364000		CCDS33350.1			1	
ASH1L	0	LGGM	GRCh37	1	155449519	155449519	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	32	20	.	.	ENST00000392403.3:c.3142G>A	p.Gly1048Arg	p.G1048R	ENST00000392403	NM_018489.2	1048	Gga/Aga	0	1		UPI000013D5D2	0	NA	ENST00000368346		ENSG00000116539	19088		52	1.1		HGNC	p.G1048R		ASH1L		SNV							ENST00000368346	protein_coding	getma.org/?cm=var&var=hg19,1,155449519,C,T&fts=all		hmmpanther:PTHR22884:SF311,hmmpanther:PTHR22884		G/R		T	low	3782/11942		getma.org/?cm=msa&ty=f&p=ASH1L_HUMAN&rb=1022&re=1221&var=G1048R	deleterious_low_confidence(0)					ASH1L,missense_variant,p.Gly1048Arg,ENST00000368346,;ASH1L,missense_variant,p.Gly1048Arg,ENST00000392403,NM_018489.2;ASH1L,downstream_gene_variant,,ENST00000548830,;							MODERATE	3142/8910	G1048R	ASH1L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357330					1	
ERBB3	0	LGGM	GRCh37	12	56481826	56481826	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	30	20	.	.	ENST00000267101.3:c.754A>T	p.Ser252Cys	p.S252C	ENST00000267101	NM_001982.3	252	Agt/Tgt	0	1	1	UPI000012A113	0	getma.org/pdb.php?prot=ERBB3_HUMAN&from=169&to=332&var=S252C	ENST00000267101		ENSG00000065361	3431		50	2.985		HGNC	p.S252C		ERBB3		SNV			1				ENST00000551242	protein_coding	getma.org/?cm=var&var=hg19,12,56481826,A,T&fts=all		hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Pfam_domain:PF00757,Gene3D:2.10.220.10,SMART_domains:SM00261,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184		S/C		T	medium	1194/5919		getma.org/?cm=msa&ty=f&p=ERBB3_HUMAN&rb=169&re=332&var=S252C	deleterious(0)	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN			YES	ERBB3,missense_variant,p.Ser252Cys,ENST00000267101,NM_001982.3;ERBB3,missense_variant,p.Ser193Cys,ENST00000415288,;ERBB3,intron_variant,,ENST00000450146,;ERBB3,downstream_gene_variant,,ENST00000411731,NM_001005915.1;ERBB3,downstream_gene_variant,,ENST00000549672,;ERBB3,downstream_gene_variant,,ENST00000549282,;ERBB3,downstream_gene_variant,,ENST00000549061,;ERBB3,missense_variant,p.Ser252Cys,ENST00000551085,;ERBB3,missense_variant,p.Ser252Cys,ENST00000551242,;ERBB3,non_coding_transcript_exon_variant,,ENST00000546748,;ERBB3,non_coding_transcript_exon_variant,,ENST00000549472,;ERBB3,intron_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000546884,;ERBB3,upstream_gene_variant,,ENST00000551176,;							MODERATE	754/4029	S252C	ERBB3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000267101		CCDS31833.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67316525	67316525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	17	20	.	.	ENST00000360461.5:c.1373G>A	p.Arg458Gln	p.R458Q	ENST00000360461	NM_001129727.1	458	cGg/cAg	0	1	1	UPI000013C774	0	NA	ENST00000360461		ENSG00000196155	24501	8.64E-05	37	-2.08		HGNC	p.R458Q	rs769621780	PLEKHG4		SNV			1				ENST00000360461	protein_coding	getma.org/?cm=var&var=hg19,16,67316525,G,A&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF110		R/Q		A	neutral	3908/6782	1.50E-05	getma.org/?cm=msa&ty=f&p=PKHG4_HUMAN&rb=401&re=600&var=R458Q	tolerated(0.33)	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,missense_variant,p.Arg458Gln,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,missense_variant,p.Arg458Gln,ENST00000379344,NM_001129729.1;PLEKHG4,missense_variant,p.Arg377Gln,ENST00000450733,NM_001129731.1;PLEKHG4,missense_variant,p.Arg458Gln,ENST00000427155,NM_001129728.1;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,3_prime_UTR_variant,,ENST00000393966,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;							MODERATE	1373/3576	R458Q	PKHG4_HUMAN			Transcript		benign(0)	.	ENSP00000353646	1.65E-05	CCDS32466.1			1	
CUBN	0	LGGM	GRCh37	10	16967595	16967595	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	26	21	.	.	ENST00000377833.4:c.6450G>T	p.Gly2150=	p.G2150=	ENST00000377833	NM_001081.3	2150	ggG/ggT	0	1	1	UPI00001AE8F4	0		ENST00000377833		ENSG00000107611	2548		47			HGNC	p.G2150G	rs549937453	CUBN		SNV			1	9.86E-05			ENST00000377833	protein_coding		A:0	Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		G		A		6516/11949				B3KQA6_HUMAN	A:0	A:0	YES	CUBN,synonymous_variant,p.=,ENST00000377833,NM_001081.3;		A:0.0002					LOW	6450/10872		CUBN_HUMAN		A:0.001	Transcript			.	ENSP00000367064	8.24E-06	CCDS7113.1		A:0	1	
LARP4B	0	LGGM	GRCh37	10	931649	931649	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	30	21	.	.	ENST00000316157.3:c.13C>G	p.Gln5Glu	p.Q5E	ENST00000316157	NM_015155.2	5	Cag/Gag	0	1	1	UPI00001F8C87	0	NA	ENST00000316157		ENSG00000107929	28987		51	1.04		HGNC	p.Q5E		LARP4B		SNV							ENST00000406525	protein_coding	getma.org/?cm=var&var=hg19,10,931649,G,C&fts=all		hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF43		Q/E		C	low	54/5640		getma.org/?cm=msa&ty=f&p=LAR4B_HUMAN&rb=1&re=159&var=Q5E	deleterious_low_confidence(0)	B5MCU2_HUMAN			YES	LARP4B,missense_variant,p.Gln5Glu,ENST00000316157,NM_015155.2;LARP4B,missense_variant,p.Gln5Glu,ENST00000406525,;LARP4B,missense_variant,p.Gln5Glu,ENST00000412411,;LARP4B,non_coding_transcript_exon_variant,,ENST00000481118,;LARP4B,missense_variant,p.Gln5Glu,ENST00000476529,;							MODERATE	13/2217	Q5E	LAR4B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000326128		CCDS31131.1			1	
ZZEF1	0	LGGM	GRCh37	17	3999227	3999227	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	5	21	.	.	ENST00000381638.2:c.1811A>G	p.Tyr604Cys	p.Y604C	ENST00000381638	NM_015113.3	604	tAt/tGt	0	1	1	UPI00004569F7	0	NA	ENST00000381638		ENSG00000074755	29027		26	1.04		HGNC	p.Y604C		ZZEF1		SNV							ENST00000381638	protein_coding	getma.org/?cm=var&var=hg19,17,3999227,T,C&fts=all		hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3		Y/C		C	low	1936/11456		getma.org/?cm=msa&ty=f&p=ZZEF1_HUMAN&rb=404&re=1049&var=Y604C	deleterious(0)				YES	ZZEF1,missense_variant,p.Tyr604Cys,ENST00000381638,NM_015113.3;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;							MODERATE	1811/8886	Y604C	ZZEF1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000371051		CCDS11043.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123477427	123477427	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	17	21	.	.	ENST00000529750.1:c.1005G>A	p.Val335=	p.V335=	ENST00000529750	NM_020716.1	335	gtG/gtA	0	1	1	UPI00005C3025	0		ENST00000529750		ENSG00000023171	29214		38			HGNC	p.V335V		GRAMD1B		SNV							ENST00000529750	protein_coding			hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		V		A		1332/7723							YES	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.=,ENST00000534764,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;							LOW	1005/2217		GRM1B_HUMAN			Transcript			.	ENSP00000436500		CCDS53720.1			1	
SORCS2	0	LGGM	GRCh37	4	7533263	7533263	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	19	21	.	.	ENST00000507866.2:c.555A>C	p.Ser185=	p.S185=	ENST00000507866	NM_020777.2	185	tcA/tcC	0	1	1	UPI0000EE6E4F	0		ENST00000507866		ENSG00000184985	16698		40			HGNC	p.S185S		SORCS2		SNV							ENST00000507866	protein_coding			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296		S		C		664/6152							YES	SORCS2,synonymous_variant,p.=,ENST00000507866,NM_020777.2;SORCS2,synonymous_variant,p.=,ENST00000329016,;SORCS2,non_coding_transcript_exon_variant,,ENST00000511199,;							LOW	555/3480		SORC2_HUMAN			Transcript			.	ENSP00000422185		CCDS47008.1			1	
FBXL3	0	LGGM	GRCh37	13	77581402	77581402	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	22	.	.	ENST00000355619.5:c.1165C>G	p.Gln389Glu	p.Q389E	ENST00000355619	NM_012158.2	389	Caa/Gaa	0	1	1	UPI0000035C8B	0	NA	ENST00000355619		ENSG00000005812	13599		57	1.61		HGNC	p.Q389E		FBXL3		SNV							ENST00000355619	protein_coding	getma.org/?cm=var&var=hg19,13,77581402,G,C&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23125,hmmpanther:PTHR23125:SF274,Superfamily_domains:SSF52047		Q/E		C	low	1490/3503		getma.org/?cm=msa&ty=f&p=FBXL3_HUMAN&rb=282&re=428&var=Q389E	tolerated(0.3)				YES	FBXL3,missense_variant,p.Gln389Glu,ENST00000355619,NM_012158.2;CLN5,downstream_gene_variant,,ENST00000377453,NM_006493.2;FBXL3,downstream_gene_variant,,ENST00000417323,;FBXL3,intron_variant,,ENST00000477982,;FBXL3,intron_variant,,ENST00000485797,;							MODERATE	1165/1287	Q389E	FBXL3_HUMAN			Transcript		benign(0.015)	.	ENSP00000347834		CCDS9457.1			1	
IL12RB2	0	LGGM	GRCh37	1	67852320	67852320	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	32	22	.	.	ENST00000262345.1:c.1914G>A	p.Val638=	p.V638=	ENST00000262345	NM_001559.2	638	gtG/gtA	0	1	1	UPI0000046B13	0		ENST00000262345		ENSG00000081985	5972		54			HGNC	p.V638V		IL12RB2		SNV			1				ENST00000262345	protein_coding			hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79,Transmembrane_helices:TMhelix		V		A		2554/4040							YES	IL12RB2,synonymous_variant,p.=,ENST00000262345,NM_001559.2;IL12RB2,synonymous_variant,p.=,ENST00000371000,NM_001258216.1,NM_001258214.1;IL12RB2,synonymous_variant,p.=,ENST00000541374,;IL12RB2,synonymous_variant,p.=,ENST00000544434,NM_001258215.1;IL12RB2,non_coding_transcript_exon_variant,,ENST00000465396,;							LOW	1914/2589		I12R2_HUMAN			Transcript			.	ENSP00000262345		CCDS638.1			1	
RBM15	0	LGGM	GRCh37	1	110883053	110883053	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	25	23	.	.	ENST00000369784.3:c.1026A>G	p.Ala342=	p.A342=	ENST00000369784	NM_022768.4	342	gcA/gcG	0	1	1	UPI000013E1C5	0		ENST00000369784		ENSG00000162775	14959		48			HGNC	p.A342A	rs754706303	RBM15		SNV			1				ENST00000369784	protein_coding			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF43		A		G		1926/4244							YES	RBM15,synonymous_variant,p.=,ENST00000369784,NM_022768.4;RBM15,synonymous_variant,p.=,ENST00000602849,;RBM15,synonymous_variant,p.=,ENST00000487146,NM_001201545.1;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;	0.000116						LOW	1026/2934		RBM15_HUMAN			Transcript			.	ENSP00000358799	8.24E-06	CCDS822.1			1	
ELL2	0	LGGM	GRCh37	5	95236477	95236477	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	23	23	.	.	ENST00000237853.4:c.874A>T	p.Asn292Tyr	p.N292Y	ENST00000237853	NM_012081.5	292	Aat/Tat	0	1	1	UPI000013CA27	0	getma.org/pdb.php?prot=ELL2_HUMAN&from=10&to=292&var=N292Y	ENST00000237853		ENSG00000118985	17064		46	0.895		HGNC	p.N292Y		ELL2		SNV							ENST00000237853	protein_coding	getma.org/?cm=var&var=hg19,5,95236477,T,A&fts=all		hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF8		N/Y		A	low	1224/6046		getma.org/?cm=msa&ty=f&p=ELL2_HUMAN&rb=10&re=292&var=N292Y	tolerated(1)	Q59FW6_HUMAN,B4DTQ1_HUMAN			YES	ELL2,missense_variant,p.Asn292Tyr,ENST00000237853,NM_012081.5;ELL2,missense_variant,p.Asn110Tyr,ENST00000513343,;ELL2,intron_variant,,ENST00000431061,;ELL2,upstream_gene_variant,,ENST00000508757,;ELL2,non_coding_transcript_exon_variant,,ENST00000505584,;							MODERATE	874/1923	N292Y	ELL2_HUMAN			Transcript		possibly_damaging(0.61)	.	ENSP00000237853		CCDS4080.1			1	
OR2F2	0	LGGM	GRCh37	7	143632692	143632692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	51	24	.	.	ENST00000408955.2:c.367C>T	p.His123Tyr	p.H123Y	ENST00000408955	NM_001004685.1	123	Cat/Tat	0	1	1	UPI0000041C25	0	getma.org/pdb.php?prot=OR2F2_HUMAN&from=1&to=138&var=H123Y	ENST00000408955		ENSG00000221910	8247		75	-3.25		HGNC	p.H123Y	rs371979913,COSM745134	OR2F2		SNV	T:0.0005			0.000288		0,1	ENST00000408955	protein_coding	getma.org/?cm=var&var=hg19,7,143632692,C,T&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR26453:SF63,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		H/Y	T:0	T	neutral	434/1114		getma.org/?cm=msa&ty=f&p=OR2F2_HUMAN&rb=1&re=138&var=H123Y	tolerated(1)				YES	OR2F2,missense_variant,p.His123Tyr,ENST00000408955,NM_001004685.1;					0,1		MODERATE	367/954	H123Y	OR2F2_HUMAN			Transcript		benign(0)	.	ENSP00000386222	2.47E-05	CCDS43666.1			1	
FIGNL1	0	LGGM	GRCh37	7	50513455	50513455	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	62	25	.	.	ENST00000419119.1:c.1531G>A	p.Asp511Asn	p.D511N	ENST00000419119		511	Gat/Aat	0	1		UPI000013CE5D	0	getma.org/pdb.php?prot=FIGL1_HUMAN&from=437&to=567&var=D511N	ENST00000356889		ENSG00000132436	13286		87	0.02		HGNC	p.D511N		FIGNL1		SNV							ENST00000395556	protein_coding	getma.org/?cm=var&var=hg19,7,50513455,C,T&fts=all		hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074,Pfam_domain:PF00004,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		D/N		T	neutral	1842/3466		getma.org/?cm=msa&ty=f&p=FIGL1_HUMAN&rb=437&re=567&var=D511N	deleterious(0.01)	C9JTG6_HUMAN,C9JTB2_HUMAN,C9JP37_HUMAN,C9JKI6_HUMAN,C9JHJ4_HUMAN				FIGNL1,missense_variant,p.Asp511Asn,ENST00000419119,;FIGNL1,missense_variant,p.Asp511Asn,ENST00000433017,NM_001287492.1;FIGNL1,missense_variant,p.Asp511Asn,ENST00000395556,NM_022116.3,NM_001042762.1,NM_001287495.1,NM_001287494.1,NM_001287493.1;FIGNL1,missense_variant,p.Asp511Asn,ENST00000356889,NM_001287495.1,NM_001287494.1;FIGNL1,downstream_gene_variant,,ENST00000440350,;FIGNL1,downstream_gene_variant,,ENST00000435566,;FIGNL1,downstream_gene_variant,,ENST00000420829,;FIGNL1,downstream_gene_variant,,ENST00000422854,;FIGNL1,downstream_gene_variant,,ENST00000448788,;FIGNL1,downstream_gene_variant,,ENST00000436590,;							MODERATE	1531/2025	D511N	FIGL1_HUMAN			Transcript		possibly_damaging(0.521)	.	ENSP00000349356		CCDS5510.1			1	
REV3L	0	LGGM	GRCh37	6	111695679	111695679	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	77	25	.	.	ENST00000358835.3:c.3879T>C	p.Ser1293=	p.S1293=	ENST00000358835		1293	tcT/tcC	0	1	1	UPI0000140023	0		ENST00000358835		ENSG00000009413	9968		102			HGNC	p.S1293S		REV3L		SNV							ENST00000358835	protein_coding			hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		S		G		4334/10789				Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,synonymous_variant,p.=,ENST00000435970,NM_001286432.1;REV3L,synonymous_variant,p.=,ENST00000358835,;REV3L,synonymous_variant,p.=,ENST00000368802,NM_002912.3;REV3L,synonymous_variant,p.=,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							LOW	3879/9393		DPOLZ_HUMAN			Transcript			.	ENSP00000351697		CCDS5091.2			1	
MGAM	0	LGGM	GRCh37	7	141763351	141763351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	79	25	.	.	ENST00000549489.2:c.4310G>A	p.Arg1437Lys	p.R1437K	ENST00000549489	NM_004668.2	1437	aGg/aAg	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=1215&to=1717&var=R1437K	ENST00000549489		ENSG00000257335	7043		104	1.57		HGNC	p.R1437K		MGAM		SNV							ENST00000475668	protein_coding	getma.org/?cm=var&var=hg19,7,141763351,G,A&fts=all		Pfam_domain:PF01055		R/K		A	low	4405/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=1215&re=1717&var=R1437K	tolerated(0.5)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Arg1437Lys,ENST00000475668,;MGAM,missense_variant,p.Arg1437Lys,ENST00000549489,NM_004668.2;							MODERATE	4310/5574	R1437K	MGA_HUMAN			Transcript		benign(0.001)	.	ENSP00000447378		CCDS47727.1			1	
REV3L	0	LGGM	GRCh37	6	111695677	111695677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	77	26	.	.	ENST00000358835.3:c.3881G>A	p.Gly1294Asp	p.G1294D	ENST00000358835		1294	gGc/gAc	0	1	1	UPI0000140023	0	NA	ENST00000358835		ENSG00000009413	9968		103	0.755		HGNC	p.G1294D		REV3L		SNV							ENST00000358835	protein_coding	getma.org/?cm=var&var=hg19,6,111695677,C,T&fts=all		hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		G/D		T	neutral	4336/10789		getma.org/?cm=msa&ty=f&p=DPOLZ_HUMAN&rb=1027&re=1865&var=G1294D	tolerated_low_confidence(0.18)	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,missense_variant,p.Gly1216Asp,ENST00000435970,NM_001286432.1;REV3L,missense_variant,p.Gly1294Asp,ENST00000358835,;REV3L,missense_variant,p.Gly1294Asp,ENST00000368802,NM_002912.3;REV3L,missense_variant,p.Gly1294Asp,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							MODERATE	3881/9393	G1294D	DPOLZ_HUMAN			Transcript		benign(0.011)	.	ENSP00000351697		CCDS5091.2			1	
APOB	0	LGGM	GRCh37	2	21233019	21233019	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	17	26	.	.	ENST00000233242.1:c.6721A>G	p.Ser2241Gly	p.S2241G	ENST00000233242	NM_000384.2	2241	Agt/Ggt	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		43	0		HGNC	p.S2241G		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21233019,T,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		S/G		C	neutral	6849/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=2073&re=2272&var=S2241G		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Ser2241Gly,ENST00000233242,NM_000384.2;							MODERATE	6721/13692	S2241G	APOB_HUMAN			Transcript		benign(0)	.	ENSP00000233242		CCDS1703.1			1	
RAD23B	0	LGGM	GRCh37	9	110068687	110068687	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	30	26	.	.	ENST00000358015.3:c.256G>T	p.Ala86Ser	p.A86S	ENST00000358015	NM_002874.4	86	Gct/Tct	0	1	1	UPI0000132F6C	0	NA	ENST00000358015		ENSG00000119318	9813		56	0.895		HGNC	p.A86S		RAD23B		SNV							ENST00000358015	protein_coding	getma.org/?cm=var&var=hg19,9,110068687,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10621,hmmpanther:PTHR10621:SF2,TIGRFAM_domain:TIGR00601,Superfamily_domains:SSF54236		A/S		T	low	607/4119		getma.org/?cm=msa&ty=f&p=RD23B_HUMAN&rb=79&re=188&var=A86S	tolerated(0.48)	Q5W0S5_HUMAN			YES	RAD23B,missense_variant,p.Ala86Ser,ENST00000358015,NM_002874.4,NM_001244713.1;RAD23B,missense_variant,p.Ala14Ser,ENST00000416373,NM_001244724.1;RAD23B,missense_variant,p.Ala86Ser,ENST00000419616,;RAD23B,missense_variant,p.Ala65Ser,ENST00000442587,;RAD23B,upstream_gene_variant,,ENST00000457811,;							MODERATE	256/1230	A86S	RD23B_HUMAN			Transcript		unknown(0)	.	ENSP00000350708		CCDS6769.1			1	
NUP155	0	LGGM	GRCh37	5	37330220	37330220	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	17	28	.	.	ENST00000231498.3:c.1644T>C	p.Cys548=	p.C548=	ENST00000231498	NM_153485.2	548	tgT/tgC	0	1	1	UPI0000001C7F	0		ENST00000231498		ENSG00000113569	8063		45			HGNC	p.C489C		NUP155		SNV			1				ENST00000381843	protein_coding			hmmpanther:PTHR10350:SF6,hmmpanther:PTHR10350		C		G		1848/8143				B4DLT2_HUMAN,B3KMK3_HUMAN			YES	NUP155,synonymous_variant,p.=,ENST00000231498,NM_153485.2;NUP155,synonymous_variant,p.=,ENST00000381843,NM_004298.3;NUP155,synonymous_variant,p.=,ENST00000513532,NM_001278312.1;RNU7-75P,downstream_gene_variant,,ENST00000516071,;							LOW	1644/4176		NU155_HUMAN			Transcript			.	ENSP00000231498		CCDS3921.1			1	
CYP2B6	0	LGGM	GRCh37	19	41516015	41516015	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	49	29	.	.	ENST00000324071.4:c.939C>T	p.Leu313=	p.L313=	ENST00000324071	NM_000767.4	313	ctC/ctT	0	1	1	UPI000012823F	0		ENST00000324071		ENSG00000197408	2615		78			HGNC	p.L313L		CYP2B6		SNV			1				ENST00000324071	protein_coding			hmmpanther:PTHR24300:SF146,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00385,Prints_domain:PR00463		L		T		946/3054				Q9UNX8_HUMAN,F2X1B0_HUMAN			YES	CYP2B6,synonymous_variant,p.=,ENST00000324071,NM_000767.4;CYP2B6,intron_variant,,ENST00000330446,;CYP2B6,intron_variant,,ENST00000593831,;CYP2B6,downstream_gene_variant,,ENST00000598834,;CYP2B6,non_coding_transcript_exon_variant,,ENST00000597612,;CYP2B6,downstream_gene_variant,,ENST00000594187,;							LOW	939/1476		CP2B6_HUMAN			Transcript			.	ENSP00000324648		CCDS12570.1			1	
RTN4	0	LGGM	GRCh37	2	55252759	55252759	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	34	29	.	.	ENST00000337526.6:c.2476G>A	p.Glu826Lys	p.E826K	ENST00000337526	NM_020532.4	826	Gag/Aag	0	1	1	UPI000000D81D	0	NA	ENST00000337526		ENSG00000115310	14085		63	2.125		HGNC	p.E826K		RTN4		SNV							ENST00000337526	protein_coding	getma.org/?cm=var&var=hg19,2,55252759,C,T&fts=all		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25		E/K		T	medium	2720/4790		getma.org/?cm=msa&ty=f&p=RTN4_HUMAN&rb=801&re=1000&var=E826K	deleterious(0.03)	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN			YES	RTN4,missense_variant,p.Glu826Lys,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Glu620Lys,ENST00000394611,;RTN4,missense_variant,p.Glu620Lys,ENST00000357376,NM_207521.1;RTN4,missense_variant,p.Glu620Lys,ENST00000404909,;RTN4,missense_variant,p.Glu620Lys,ENST00000405240,;RTN4,missense_variant,p.Glu594Lys,ENST00000354474,;RTN4,intron_variant,,ENST00000357732,NM_207520.1;RTN4,intron_variant,,ENST00000317610,NM_153828.2;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000438462,;RTN4,downstream_gene_variant,,ENST00000427710,;							MODERATE	2476/3579	E826K	RTN4_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000337838		CCDS42684.1			1	
PKP2	0	LGGM	GRCh37	12	32977098	32977098	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	23	30	.	.	ENST00000070846.6:c.1689-2A>G		p.X563_splice	ENST00000070846	NM_004572.3			0	1	1	UPI000013C576	0		ENST00000070846		ENSG00000057294	9024		53			HGNC	-		PKP2		SNV			1				ENST00000340811	protein_coding							C		-/4241							YES	PKP2,splice_acceptor_variant,,ENST00000340811,NM_001005242.2;PKP2,splice_acceptor_variant,,ENST00000070846,NM_004572.3;PKP2,non_coding_transcript_exon_variant,,ENST00000546498,;PKP2,upstream_gene_variant,,ENST00000552612,;PKP2,upstream_gene_variant,,ENST00000549461,;							HIGH	1689/2646		PKP2_HUMAN			Transcript			.	ENSP00000070846		CCDS8731.1			1	
TLR5	0	LGGM	GRCh37	1	223285481	223285481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	27	30	.	.	ENST00000540964.1:c.893G>T	p.Gly298Val	p.G298V	ENST00000540964		298	gGg/gTg	0	1		UPI0000205D14	0	getma.org/pdb.php?prot=TLR5_HUMAN&from=288&to=348&var=G298V	ENST00000366881		ENSG00000187554	11851		57	0.805		HGNC	p.G298V		TLR5		SNV			1				ENST00000366881	protein_coding	getma.org/?cm=var&var=hg19,1,223285481,C,A&fts=all		Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF221		G/V		A	low	1534/3368		getma.org/?cm=msa&ty=f&p=TLR5_HUMAN&rb=288&re=348&var=G298V	deleterious(0)	B1AZ06_HUMAN				TLR5,missense_variant,p.Gly298Val,ENST00000540964,;TLR5,missense_variant,p.Gly298Val,ENST00000366881,NM_003268.5;TLR5,missense_variant,p.Gly298Val,ENST00000342210,;TLR5,downstream_gene_variant,,ENST00000407096,;							MODERATE	893/2577	G298V	TLR5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355846		CCDS31033.1			1	
XIRP2	0	LGGM	GRCh37	2	168104587	168104587	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	26	31	.	.	ENST00000409195.1:c.6685G>T	p.Glu2229Ter	p.E2229*	ENST00000409195	NM_152381.5	2229	Gaa/Taa	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		57	0		HGNC	p.E2007X		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168104587,G,T&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		E/*		T	NA	6774/12675		NA		J3KNB1_HUMAN			YES	XIRP2,stop_gained,p.Glu2229Ter,ENST00000409195,NM_152381.5;XIRP2,stop_gained,p.Glu2229Ter,ENST00000295237,;XIRP2,stop_gained,p.Glu2007Ter,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;							HIGH	6685/10650	E2054*				Transcript			.	ENSP00000386840		CCDS42769.1			1	
LRFN5	0	LGGM	GRCh37	14	42360531	42360531	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	54	31	.	.	ENST00000298119.4:c.1464C>A	p.Ala488=	p.A488=	ENST00000298119	NM_152447.3	488	gcC/gcA	0	1	1	UPI000000DA1E	0		ENST00000298119		ENSG00000165379	20360		85			HGNC	p.A488A		LRFN5		SNV							ENST00000298119	protein_coding			Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3		A		A		2653/3723							YES	LRFN5,synonymous_variant,p.=,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;							LOW	1464/2160		LRFN5_HUMAN			Transcript			.	ENSP00000298119		CCDS9678.1			1	
ASXL2	0	LGGM	GRCh37	2	25966160	25966160	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	49	32	.	.	ENST00000435504.4:c.3046A>G	p.Thr1016Ala	p.T1016A	ENST00000435504		1016	Acg/Gcg	0	1	1	UPI00001DFBE8	0	NA	ENST00000435504		ENSG00000143970	23805	8.80E-05	81	-0.69		HGNC	p.T1016A	rs570823397	ASXL2	0.00231	SNV							ENST00000435504	protein_coding	getma.org/?cm=var&var=hg19,2,25966160,T,C&fts=all	C:0	hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578		T/A		C	neutral	3340/12878		getma.org/?cm=msa&ty=f&p=ASXL2_HUMAN&rb=988&re=1187&var=T1016A	tolerated(0.43)		C:0	C:0	YES	ASXL2,missense_variant,p.Thr1016Ala,ENST00000435504,;ASXL2,missense_variant,p.Thr988Ala,ENST00000336112,NM_018263.4;ASXL2,intron_variant,,ENST00000272341,;ASXL2,intron_variant,,ENST00000404843,;		C:0.0006					MODERATE	3046/4308	T1016A	ASXL2_HUMAN		C:0	Transcript		benign(0)	common_variant	ENSP00000391447	0.000323			C:0.0031	1	
ZNF714	0	LGGM	GRCh37	19	21299776	21299777	+	inframe_insertion	In_Frame_Ins	INS	-	-	AAC	novel	by Submitter	H080486	H080486N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	8	32	.	.	ENST00000596143.1:c.306_307insAAC	p.Tyr102_Glu103insAsn	p.Y102_E103insN	ENST00000596143	NM_182515.3	102	-/AAC	0	1	1	UPI000059D6C5	0		ENST00000596143		ENSG00000160352	27124		40			HGNC	p.Y130delinsYN		ZNF714		insertion							ENST00000596367	protein_coding			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF104		-/N		AAC		631-632/6809				M0R2G4_HUMAN,M0QYV9_HUMAN			YES	ZNF714,inframe_insertion,p.Tyr102_Glu103insAsn,ENST00000596143,NM_182515.3;ZNF714,inframe_insertion,p.Tyr130_Glu131insAsn,ENST00000596367,;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,5_prime_UTR_variant,,ENST00000597086,;ZNF714,5_prime_UTR_variant,,ENST00000597424,;ZNF714,intron_variant,,ENST00000596053,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,inframe_insertion,p.Tyr102_Glu103insAsn,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;							MODERATE	306-307/1665		ZN714_HUMAN			Transcript			.	ENSP00000472368		CCDS54239.1			1	
SLFN11	0	LGGM	GRCh37	17	33687387	33687387	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	45	32	.	.	ENST00000394566.1:c.1073T>G	p.Leu358Arg	p.L358R	ENST00000394566	NM_001104587.1	358	cTt/cGt	0	1		UPI0000140B0E	0	NA	ENST00000308377		ENSG00000172716	26633		77	1.975		HGNC	p.L358R		SLFN11		SNV							ENST00000394566	protein_coding	getma.org/?cm=var&var=hg19,17,33687387,A,C&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF20		L/R		C	medium	1226/4910		getma.org/?cm=msa&ty=f&p=SLN11_HUMAN&rb=340&re=539&var=L358R	deleterious(0.02)	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN				SLFN11,missense_variant,p.Leu358Arg,ENST00000394566,NM_001104587.1,NM_001104590.1,NM_001104588.1,NM_001104589.1;SLFN11,missense_variant,p.Leu358Arg,ENST00000308377,NM_152270.3;SLFN11,downstream_gene_variant,,ENST00000441608,;SLFN11,downstream_gene_variant,,ENST00000427966,;SLFN11,downstream_gene_variant,,ENST00000591682,;SLFN11,downstream_gene_variant,,ENST00000430814,;SLFN11,downstream_gene_variant,,ENST00000592122,;SLFN11,downstream_gene_variant,,ENST00000589811,;SLFN11,downstream_gene_variant,,ENST00000588579,;SLFN11,non_coding_transcript_exon_variant,,ENST00000586099,;SLFN11,downstream_gene_variant,,ENST00000589562,;							MODERATE	1073/2706	L358R	SLN11_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000312402		CCDS11294.1			1	
MTRR	0	LGGM	GRCh37	5	7878215	7878215	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	25	33	.	.	ENST00000264668.2:c.641T>C	p.Ile214Thr	p.I214T	ENST00000264668	NM_024010.2	214	aTt/aCt	0	1	1	UPI000013D550	0	NA	ENST00000264668		ENSG00000124275	7473		58	1.7		HGNC	p.I214T		MTRR		SNV			1				ENST00000264668	protein_coding	getma.org/?cm=var&var=hg19,5,7878215,T,C&fts=all		hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF65		I/T		C	low	671/3274		getma.org/?cm=msa&ty=f&p=MTRR_HUMAN&rb=170&re=292&var=I214T	tolerated(0.16)	D6RIS8_HUMAN,D6RGC7_HUMAN,D6RAZ2_HUMAN			YES	MTRR,missense_variant,p.Ile214Thr,ENST00000264668,NM_024010.2,NM_002454.2;MTRR,missense_variant,p.Ile187Thr,ENST00000440940,;MTRR,missense_variant,p.Ile116Thr,ENST00000514220,;MTRR,3_prime_UTR_variant,,ENST00000341013,;MTRR,downstream_gene_variant,,ENST00000502550,;MTRR,downstream_gene_variant,,ENST00000512217,;MTRR,downstream_gene_variant,,ENST00000502509,;MTRR,missense_variant,p.Ile196Thr,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,3_prime_UTR_variant,,ENST00000514369,;MTRR,3_prime_UTR_variant,,ENST00000510279,;MTRR,downstream_gene_variant,,ENST00000503550,;MTRR,downstream_gene_variant,,ENST00000508047,;MTRR,downstream_gene_variant,,ENST00000508890,;							MODERATE	641/2178	I214T	MTRR_HUMAN			Transcript		benign(0.147)	.	ENSP00000264668		CCDS3874.1			1	
SMYD4	0	LGGM	GRCh37	17	1703960	1703960	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	12	34	.	.	ENST00000305513.7:c.728A>C	p.Lys243Thr	p.K243T	ENST00000305513	NM_052928.2	243	aAa/aCa	0	1	1	UPI000013EA5C	0	NA	ENST00000305513		ENSG00000186532	21067		46	2.3		HGNC	p.K47T		SMYD4		SNV							ENST00000491788	protein_coding	getma.org/?cm=var&var=hg19,17,1703960,T,G&fts=all		Gene3D:2.170.270.10,PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF152,Superfamily_domains:SSF82199		K/T		G	medium	896/4384		getma.org/?cm=msa&ty=f&p=SMYD4_HUMAN&rb=136&re=243&var=K243T	deleterious(0)	I3L496_HUMAN,I3L428_HUMAN,I3L2P4_HUMAN			YES	SMYD4,missense_variant,p.Lys243Thr,ENST00000305513,NM_052928.2;SMYD4,missense_variant,p.Lys47Thr,ENST00000491788,;SMYD4,downstream_gene_variant,,ENST00000570368,;SMYD4,downstream_gene_variant,,ENST00000571854,;SMYD4,downstream_gene_variant,,ENST00000573937,;							MODERATE	728/2415	K243T	SMYD4_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000304360		CCDS11013.1			1	
STAG1	0	LGGM	GRCh37	3	136096581	136096581	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	44	34	.	.	ENST00000383202.2:c.2291T>G	p.Val764Gly	p.V764G	ENST00000383202	NM_005862.2	764	gTa/gGa	0	1	1	UPI000020A2DE	0	NA	ENST00000383202		ENSG00000118007	11354		78	-0.205		HGNC	p.V764G		STAG1		SNV							ENST00000236698	protein_coding	getma.org/?cm=var&var=hg19,3,136096581,A,C&fts=all		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Superfamily_domains:SSF48371		V/G		C	neutral	2548/6053		getma.org/?cm=msa&ty=f&p=STAG1_HUMAN&rb=677&re=876&var=V764G	tolerated(0.38)	Q4LE48_HUMAN			YES	STAG1,missense_variant,p.Val764Gly,ENST00000383202,NM_005862.2;STAG1,missense_variant,p.Val764Gly,ENST00000236698,;STAG1,missense_variant,p.Val538Gly,ENST00000434713,;STAG1,missense_variant,p.Val348Gly,ENST00000536929,;STAG1,3_prime_UTR_variant,,ENST00000483235,;							MODERATE	2291/3777	V764G	STAG1_HUMAN			Transcript		benign(0.001)	.	ENSP00000372689		CCDS3090.1			1	
VPS54	0	LGGM	GRCh37	2	64126621	64126621	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	34	35	.	.	ENST00000272322.4:c.2720A>C	p.Glu907Ala	p.E907A	ENST00000272322		907	gAa/gCa	0	1	1	UPI0000053408	0	getma.org/pdb.php?prot=VPS54_HUMAN&from=870&to=977&var=E907A	ENST00000272322		ENSG00000143952	18652		69	2.125		HGNC	p.E895A		VPS54		SNV							ENST00000483277	protein_coding	getma.org/?cm=var&var=hg19,2,64126621,T,G&fts=all		hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965		E/A		G	medium	2875/3463		getma.org/?cm=msa&ty=f&p=VPS54_HUMAN&rb=870&re=977&var=E907A	tolerated(0.12)				YES	VPS54,missense_variant,p.Glu895Ala,ENST00000409558,NM_016516.2,NM_001005739.1;VPS54,missense_variant,p.Glu754Ala,ENST00000354504,;VPS54,missense_variant,p.Glu907Ala,ENST00000272322,;VPS54,3_prime_UTR_variant,,ENST00000416400,;							MODERATE	2720/2934	E907A	VPS54_HUMAN			Transcript		benign(0.007)	.	ENSP00000272322		CCDS33208.1			1	
SEMA6D	0	LGGM	GRCh37	15	48053931	48053931	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	53	36	.	.	ENST00000316364.5:c.521A>G	p.Asn174Ser	p.N174S	ENST00000316364	NM_153618.1	174	aAt/aGt	0	1	1	UPI000006E201	0	getma.org/pdb.php?prot=SEM6D_HUMAN&from=57&to=483&var=N174S	ENST00000316364		ENSG00000137872	16770		89	0.43		HGNC	p.N174S	rs748471595	SEMA6D		SNV							ENST00000558816	protein_coding	getma.org/?cm=var&var=hg19,15,48053931,A,G&fts=all		Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004		N/S		G	neutral	960/6099	3.00E-05	getma.org/?cm=msa&ty=f&p=SEM6D_HUMAN&rb=57&re=483&var=N174S	deleterious(0)	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN			YES	SEMA6D,missense_variant,p.Asn174Ser,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Asn174Ser,ENST00000389433,;SEMA6D,missense_variant,p.Asn174Ser,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Asn174Ser,ENST00000389432,;SEMA6D,missense_variant,p.Asn174Ser,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Asn174Ser,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Asn174Ser,ENST00000355997,NM_153619.1;SEMA6D,missense_variant,p.Asn174Ser,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Asn174Ser,ENST00000537942,;SEMA6D,missense_variant,p.Asn174Ser,ENST00000558816,;SEMA6D,missense_variant,p.Asn174Ser,ENST00000536845,;SEMA6D,missense_variant,p.Asn174Ser,ENST00000389425,NM_024966.2;SEMA6D,missense_variant,p.Asn174Ser,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,;							MODERATE	521/3222	N174S	SEM6D_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000324857	1.65E-05	CCDS32225.1			1	
CYP1A2	0	LGGM	GRCh37	15	75042488	75042488	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	53	36	.	.	ENST00000343932.4:c.409C>T	p.Arg137Trp	p.R137W	ENST00000343932	NM_000761.3	137	Cgg/Tgg	0	1	1	UPI0000073775	0	getma.org/pdb.php?prot=CP1A2_HUMAN&from=42&to=505&var=R137W	ENST00000343932		ENSG00000140505	2596		89	4.485		HGNC	p.R137W	rs758124536,COSM964891	CYP1A2		SNV			1			0,1	ENST00000343932	protein_coding	getma.org/?cm=var&var=hg19,15,75042488,C,T&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF48264		R/W		T	high	472/2728		getma.org/?cm=msa&ty=f&p=CP1A2_HUMAN&rb=42&re=505&var=R137W	deleterious(0)				YES	CYP1A2,missense_variant,p.Arg137Trp,ENST00000343932,NM_000761.3;	0.000116				0,1		MODERATE	409/1551	R137W	CP1A2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342007	8.24E-06	CCDS32293.1			1	
ZNF654	0	LGGM	GRCh37	3	88189964	88189964	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	35	38	.	.	ENST00000309495.5:c.1504A>G	p.Arg502Gly	p.R502G	ENST00000309495	NM_018293.2	502	Aga/Gga	0	1	1	UPI0000DD0307	0	NA	ENST00000309495		ENSG00000175105	25612		73	1.04		HGNC	p.R502G		ZNF654		SNV							ENST00000309495	protein_coding	getma.org/?cm=var&var=hg19,3,88189964,A,G&fts=all		hmmpanther:PTHR15507		R/G		G	low	1711/4966		getma.org/?cm=msa&ty=f&p=ZN654_HUMAN&rb=448&re=581&var=R502G	deleterious(0)				YES	ZNF654,missense_variant,p.Arg502Gly,ENST00000309495,NM_018293.2;CGGBP1,intron_variant,,ENST00000462901,;CGGBP1,intron_variant,,ENST00000467332,;RP11-159G9.5,downstream_gene_variant,,ENST00000498458,;							MODERATE	1504/1746	R502G	ZN654_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000312141		CCDS46874.1			1	
SMYD4	0	LGGM	GRCh37	17	1703971	1703971	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	10	38	.	.	ENST00000305513.7:c.717A>G	p.Val239=	p.V239=	ENST00000305513	NM_052928.2	239	gtA/gtG	0	1	1	UPI000013EA5C	0		ENST00000305513		ENSG00000186532	21067		48			HGNC	p.V43V	rs773594240	SMYD4		SNV							ENST00000491788	protein_coding			Gene3D:2.170.270.10,PROSITE_profiles:PS50280,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF152		V		C		885/4384				I3L496_HUMAN,I3L428_HUMAN,I3L2P4_HUMAN			YES	SMYD4,synonymous_variant,p.=,ENST00000305513,NM_052928.2;SMYD4,synonymous_variant,p.=,ENST00000491788,;SMYD4,downstream_gene_variant,,ENST00000570368,;SMYD4,downstream_gene_variant,,ENST00000571854,;SMYD4,downstream_gene_variant,,ENST00000573937,;	0.000116						LOW	717/2415		SMYD4_HUMAN			Transcript			.	ENSP00000304360	8.24E-06	CCDS11013.1			1	
HERC1	0	LGGM	GRCh37	15	63907986	63907986	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	48	39	.	.	ENST00000443617.2:c.14075T>G	p.Leu4692Arg	p.L4692R	ENST00000443617	NM_003922.3	4692	cTt/cGt	0	1	1	UPI0000212760	0	getma.org/pdb.php?prot=HERC1_HUMAN&from=4533&to=4842&var=L4692R	ENST00000443617		ENSG00000103657	4867		87	3.18		HGNC	p.L4692R		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,63907986,A,C&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Gene3D:1c4zA02,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204		L/R		C	medium	14163/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=4533&re=4842&var=L4692R		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Leu4692Arg,ENST00000443617,NM_003922.3;HERC1,non_coding_transcript_exon_variant,,ENST00000559996,;							MODERATE	14075/14586	L4692R	HERC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000390158		CCDS45277.1			1	
PREX2	0	LGGM	GRCh37	8	68984764	68984764	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	38	40	.	.	ENST00000288368.4:c.1528G>T	p.Val510Leu	p.V510L	ENST00000288368	NM_024870.2	510	Gtg/Ttg	0	1	1	UPI0000375435	0	getma.org/pdb.php?prot=PREX2_HUMAN&from=495&to=563&var=V510L	ENST00000288368		ENSG00000046889	22950		78	2.415		HGNC	p.V510L		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,68984764,G,T&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00610,PROSITE_profiles:PS50186,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00049,Superfamily_domains:SSF46785		V/L		T	medium	1805/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=495&re=563&var=V510L	deleterious(0)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Val510Leu,ENST00000288368,NM_024870.2,NM_025170.4;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;							MODERATE	1528/4821	V510L	PREX2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000288368		CCDS6201.1			1	
ACTB	0	LGGM	GRCh37	7	5568241	5568241	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	137	40	.	.	ENST00000331789.5:c.473G>A	p.Gly158Glu	p.G158E	ENST00000331789	NM_001101.3	158	gGg/gAg	0	1	1	UPI000000082D	0	getma.org/pdb.php?prot=ACTB_HUMAN&from=2&to=375&var=G158E	ENST00000331789		ENSG00000075624	132		177	4.03		HGNC	p.G158E		ACTB		SNV			1				ENST00000432588	protein_coding	getma.org/?cm=var&var=hg19,7,5568241,C,T&fts=all		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF187,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067,Prints_domain:PR00190		G/E		T	high	665/1917		getma.org/?cm=msa&ty=f&p=ACTB_HUMAN&rb=2&re=375&var=G158E	deleterious_low_confidence(0)	Q9UE89_HUMAN,Q96FU6_HUMAN,Q96DE1_HUMAN,Q6PJ43_HUMAN,Q562Z7_HUMAN,Q1KLZ0_HUMAN,E7EVS6_HUMAN,C9JZR7_HUMAN,C9JTX5_HUMAN,B4E335_HUMAN,B3KWQ3_HUMAN,A5GZ75_HUMAN,A4UCT3_HUMAN,A1E282_HUMAN			YES	ACTB,missense_variant,p.Gly158Glu,ENST00000331789,NM_001101.3;ACTB,missense_variant,p.Gly158Glu,ENST00000432588,;ACTB,downstream_gene_variant,,ENST00000443528,;ACTB,downstream_gene_variant,,ENST00000414620,;ACTB,downstream_gene_variant,,ENST00000417101,;AC006483.1,upstream_gene_variant,,ENST00000579427,;ACTB,non_coding_transcript_exon_variant,,ENST00000473257,;ACTB,upstream_gene_variant,,ENST00000464611,;ACTB,3_prime_UTR_variant,,ENST00000425660,;ACTB,non_coding_transcript_exon_variant,,ENST00000462494,;ACTB,non_coding_transcript_exon_variant,,ENST00000493945,;ACTB,non_coding_transcript_exon_variant,,ENST00000484841,;ACTB,non_coding_transcript_exon_variant,,ENST00000477812,;ACTB,downstream_gene_variant,,ENST00000480301,;							MODERATE	473/1128	G158E	ACTB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349960		CCDS5341.1			1	
FAM169A	0	LGGM	GRCh37	5	74078795	74078795	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	29	41	.	.	ENST00000389156.4:c.1425A>G	p.Val475=	p.V475=	ENST00000389156	NM_015566.2	475	gtA/gtG	0	1	1	UPI000013E38E	0		ENST00000389156		ENSG00000198780	29138		70			HGNC	p.V415V		FAM169A		SNV							ENST00000510496	protein_coding			hmmpanther:PTHR22442:SF3,hmmpanther:PTHR22442		V		C		1516/5990				D6RFI5_HUMAN,D6RC41_HUMAN,D6R953_HUMAN			YES	FAM169A,synonymous_variant,p.=,ENST00000389156,NM_015566.2;FAM169A,synonymous_variant,p.=,ENST00000510496,;FAM169A,3_prime_UTR_variant,,ENST00000380515,;RNU6-1330P,downstream_gene_variant,,ENST00000362775,;FAM169A,3_prime_UTR_variant,,ENST00000514215,;FAM169A,3_prime_UTR_variant,,ENST00000510609,;							LOW	1425/2013		F169A_HUMAN			Transcript			.	ENSP00000373808		CCDS43330.1			1	
PCDHA2	0	LGGM	GRCh37	5	140176220	140176220	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	49	42	.	.	ENST00000526136.1:c.1671C>T	p.Asp557=	p.D557=	ENST00000526136	NM_018905.2	557	gaC/gaT	0	1	1	UPI00001273C9	0		ENST00000526136		ENSG00000204969	8668		91			HGNC	p.D557D	COSM3239512,COSM3239511	PCDHA2		SNV						1,1	ENST00000378132	protein_coding			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		D		T		1671/5254							YES	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;					1,1		LOW	1671/2847		PCDA2_HUMAN			Transcript			.	ENSP00000431748		CCDS54914.1			1	
FAM65B	0	LGGM	GRCh37	6	24843574	24843574	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	24	44	.	.	ENST00000259698.4:c.1436A>G	p.Asp479Gly	p.D479G	ENST00000259698	NM_014722.2	479	gAt/gGt	0	1	1	UPI0000EE554D	0	NA	ENST00000259698		ENSG00000111913	13872		68	1.78		HGNC	p.D458G		FAM65B		SNV			1				ENST00000538035	protein_coding	getma.org/?cm=var&var=hg19,6,24843574,T,C&fts=all		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2		D/G		C	low	1612/5471		getma.org/?cm=msa&ty=f&p=FA65B_HUMAN&rb=401&re=600&var=D479G	tolerated(0.1)	H3BP45_HUMAN			YES	FAM65B,missense_variant,p.Asp479Gly,ENST00000259698,NM_014722.2;FAM65B,missense_variant,p.Asp458Gly,ENST00000538035,NM_001286445.1;FAM65B,missense_variant,p.Asp429Gly,ENST00000540914,NM_001286447.1;FAM65B,missense_variant,p.Asp429Gly,ENST00000378023,NM_015864.2;FAM65B,missense_variant,p.Asp463Gly,ENST00000510784,;AL512428.1,upstream_gene_variant,,ENST00000583229,;FAM65B,upstream_gene_variant,,ENST00000473070,;							MODERATE	1436/3207	D479G	FA65B_HUMAN			Transcript		benign(0.003)	.	ENSP00000259698		CCDS47383.1			1	
NCAPG	0	LGGM	GRCh37	4	17819702	17819702	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	45	44	.	.	ENST00000251496.2:c.1109A>G	p.Tyr370Cys	p.Y370C	ENST00000251496	NM_022346.4	370	tAt/tGt	0	1	1	UPI0000073296	0	NA	ENST00000251496		ENSG00000109805	24304		89	2.79		HGNC	p.Y370C		NCAPG		SNV							ENST00000251496	protein_coding	getma.org/?cm=var&var=hg19,4,17819702,A,G&fts=all		hmmpanther:PTHR14418,hmmpanther:PTHR14418:SF5		Y/C		G	medium	1285/4661		getma.org/?cm=msa&ty=f&p=CND3_HUMAN&rb=201&re=400&var=Y370C	deleterious(0)				YES	NCAPG,missense_variant,p.Tyr370Cys,ENST00000251496,NM_022346.4;NCAPG,3_prime_UTR_variant,,ENST00000514176,;NCAPG,non_coding_transcript_exon_variant,,ENST00000509719,;NCAPG,downstream_gene_variant,,ENST00000513226,;							MODERATE	1109/3048	Y370C	CND3_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000251496		CCDS3424.1			1	
OSBPL6	0	LGGM	GRCh37	2	179197437	179197437	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	58	45	.	.	ENST00000392505.2:c.442C>A	p.Arg148=	p.R148=	ENST00000392505	NM_001201480.1	148	Cga/Aga	0	1		UPI0000130E97	0		ENST00000190611		ENSG00000079156	16388		103			HGNC	p.R127R		OSBPL6		SNV							ENST00000315022	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972,Gene3D:2.30.29.30,Pfam_domain:PF15409,SMART_domains:SM00233,Superfamily_domains:SSF50729		R		A		818/7055								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,;OSBPL6,downstream_gene_variant,,ENST00000477097,;							LOW	442/2805		OSBL6_HUMAN			Transcript			.	ENSP00000190611		CCDS2277.1			1	
COLQ	0	LGGM	GRCh37	3	15512063	15512063	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	61	45	.	.	ENST00000383788.5:c.697C>T	p.Pro233Ser	p.P233S	ENST00000383788	NM_005677.3	233	Cca/Tca	0	1	1	UPI000013F74C	0	NA	ENST00000383788		ENSG00000206561	2226		106	1.68		HGNC	p.P233S		COLQ		SNV			1				ENST00000454772	protein_coding	getma.org/?cm=var&var=hg19,3,15512063,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF6,Pfam_domain:PF01391		P/S		A	low	823/2991		getma.org/?cm=msa&ty=f&p=COLQ_HUMAN&rb=210&re=291&var=P233S	deleterious(0)				YES	COLQ,missense_variant,p.Pro233Ser,ENST00000383785,;COLQ,missense_variant,p.Pro233Ser,ENST00000383788,NM_005677.3;COLQ,missense_variant,p.Pro224Ser,ENST00000383787,;COLQ,missense_variant,p.Pro223Ser,ENST00000435459,;COLQ,missense_variant,p.Pro223Ser,ENST00000383781,NM_080538.2;COLQ,missense_variant,p.Pro233Ser,ENST00000603808,;COLQ,missense_variant,p.Pro199Ser,ENST00000383786,NM_080539.3;COLQ,missense_variant,p.Pro176Ser,ENST00000605797,;COLQ,downstream_gene_variant,,ENST00000604401,;							MODERATE	697/1368	P233S	COLQ_HUMAN			Transcript		unknown(0)	.	ENSP00000373298		CCDS33709.1			1	
FAM65B	0	LGGM	GRCh37	6	24843629	24843629	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	15	45	.	.	ENST00000259698.4:c.1381A>G	p.Ile461Val	p.I461V	ENST00000259698	NM_014722.2	461	Atc/Gtc	0	1	1	UPI0000EE554D	0	NA	ENST00000259698		ENSG00000111913	13872		60	-0.635		HGNC	p.I440V		FAM65B		SNV			1				ENST00000538035	protein_coding	getma.org/?cm=var&var=hg19,6,24843629,T,C&fts=all		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF2		I/V		C	neutral	1557/5471		getma.org/?cm=msa&ty=f&p=FA65B_HUMAN&rb=401&re=600&var=I461V	tolerated(1)	H3BP45_HUMAN			YES	FAM65B,missense_variant,p.Ile461Val,ENST00000259698,NM_014722.2;FAM65B,missense_variant,p.Ile440Val,ENST00000538035,NM_001286445.1;FAM65B,missense_variant,p.Ile411Val,ENST00000540914,NM_001286447.1;FAM65B,missense_variant,p.Ile411Val,ENST00000378023,NM_015864.2;FAM65B,missense_variant,p.Ile445Val,ENST00000510784,;AL512428.1,upstream_gene_variant,,ENST00000583229,;FAM65B,upstream_gene_variant,,ENST00000473070,;							MODERATE	1381/3207	I461V	FA65B_HUMAN			Transcript		benign(0.003)	.	ENSP00000259698		CCDS47383.1			1	
MUC16	0	LGGM	GRCh37	19	9085682	9085682	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	48	46	.	.	ENST00000397910.4:c.6133A>G	p.Arg2045Gly	p.R2045G	ENST00000397910	NM_024690.2	2045	Agg/Ggg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		94	0		HGNC	p.R2045G		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9085682,T,C&fts=all				R/G		C	neutral	6337/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=R2045G		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Arg2045Gly,ENST00000397910,NM_024690.2;							MODERATE	6133/43524	R2045G				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
TPD52	0	LGGM	GRCh37	8	80965604	80965604	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	37	47	.	.	ENST00000379097.3:c.317A>T	p.Glu106Val	p.E106V	ENST00000379097	NM_001025252.1	106	gAg/gTg	0	1	1	UPI000000D76B	0	NA	ENST00000379097		ENSG00000076554	12005		84	2.8		HGNC	p.E66V		TPD52		SNV							ENST00000379096	protein_coding	getma.org/?cm=var&var=hg19,8,80965604,T,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04201,hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF12		E/V		A	medium	680/2563		getma.org/?cm=msa&ty=f&p=TPD52_HUMAN&rb=47&re=211&var=E106V	deleterious(0)				YES	TPD52,missense_variant,p.Glu66Val,ENST00000379096,NM_005079.2,NM_001287144.1;TPD52,missense_variant,p.Glu66Val,ENST00000518937,NM_001025253.1;TPD52,missense_variant,p.Glu106Val,ENST00000520527,;TPD52,missense_variant,p.Glu106Val,ENST00000448733,;TPD52,missense_variant,p.Glu106Val,ENST00000517427,;TPD52,missense_variant,p.Glu106Val,ENST00000379097,NM_001025252.1;TPD52,missense_variant,p.Glu106Val,ENST00000537855,;TPD52,missense_variant,p.Glu119Val,ENST00000520795,;TPD52,5_prime_UTR_variant,,ENST00000519303,;TPD52,non_coding_transcript_exon_variant,,ENST00000519250,;TPD52,upstream_gene_variant,,ENST00000523395,;TPD52,upstream_gene_variant,,ENST00000520877,;TPD52,missense_variant,p.Glu106Val,ENST00000517462,;TPD52,missense_variant,p.Arg27Ser,ENST00000521354,;TPD52,missense_variant,p.Glu66Val,ENST00000521241,;TPD52,3_prime_UTR_variant,,ENST00000523753,;TPD52,3_prime_UTR_variant,,ENST00000518517,;TPD52,non_coding_transcript_exon_variant,,ENST00000523319,;TPD52,non_coding_transcript_exon_variant,,ENST00000522364,;TPD52,non_coding_transcript_exon_variant,,ENST00000518500,;TPD52,non_coding_transcript_exon_variant,,ENST00000524194,;TPD52,upstream_gene_variant,,ENST00000523193,;TPD52,upstream_gene_variant,,ENST00000517445,;							MODERATE	317/675	E106V	TPD52_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000368391		CCDS34912.1			1	
TWISTNB	0	LGGM	GRCh37	7	19737998	19737998	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	56	54	.	.	ENST00000222567.5:c.958G>C	p.Glu320Gln	p.E320Q	ENST00000222567	NM_001002926.1	320	Gaa/Caa	0	1	1	UPI000006CEF4	0	NA	ENST00000222567		ENSG00000105849	18027		110	1.39		HGNC	p.E320Q		TWISTNB		SNV							ENST00000222567	protein_coding	getma.org/?cm=var&var=hg19,7,19737998,C,G&fts=all		hmmpanther:PTHR12709,hmmpanther:PTHR12709:SF5		E/Q		G	low	1029/3942		getma.org/?cm=msa&ty=f&p=RPA43_HUMAN&rb=124&re=323&var=E320Q	deleterious(0.01)				YES	TWISTNB,missense_variant,p.Glu320Gln,ENST00000222567,NM_001002926.1;TWISTNB,downstream_gene_variant,,ENST00000462263,;							MODERATE	958/1017	E320Q	RPA43_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000222567		CCDS34606.1			1	
POT1	0	LGGM	GRCh37	7	124503689	124503689	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080486	H080486N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	34	55	.	.	ENST00000357628.3:c.261A>G	p.Gln87=	p.Q87=	ENST00000357628	NM_015450.2	87	caA/caG	0	1	1	UPI0000073E3F	0		ENST00000357628		ENSG00000128513	17284		89			HGNC	p.S44G		POT1		SNV			1				ENST00000429326	protein_coding			Gene3D:2.40.50.140,Pfam_domain:PF02765,hmmpanther:PTHR14513,hmmpanther:PTHR14513:SF2,SMART_domains:SM00976,Superfamily_domains:SSF50249		Q		C		860/4080				C9JPG9_HUMAN,A8MTK3_HUMAN			YES	POT1,synonymous_variant,p.=,ENST00000357628,NM_015450.2;POT1,5_prime_UTR_variant,,ENST00000393329,NM_001042594.1;POT1,upstream_gene_variant,,ENST00000610141,;POT1,upstream_gene_variant,,ENST00000487564,;POT1,missense_variant,p.Ser44Gly,ENST00000429326,;POT1,synonymous_variant,p.=,ENST00000609106,;POT1,synonymous_variant,p.=,ENST00000608057,;POT1,synonymous_variant,p.=,ENST00000607932,;							LOW	261/1905		POTE1_HUMAN			Transcript			.	ENSP00000350249		CCDS5793.1			1	
QRICH2	0	LGGM	GRCh37	17	74287976	74287976	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	161	57	.	.	ENST00000262765.5:c.2334T>C	p.Pro778=	p.P778=	ENST00000262765	NM_032134.1	778	ccT/ccC	0	1	1	UPI000006FECD	0		ENST00000262765		ENSG00000129646	25326		218			HGNC	p.P778P		QRICH2		SNV							ENST00000262765	protein_coding			hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78		P		G		2514/5359							YES	QRICH2,synonymous_variant,p.=,ENST00000262765,NM_032134.1;QRICH2,upstream_gene_variant,,ENST00000447564,;QRICH2,intron_variant,,ENST00000524722,;							LOW	2334/4992		QRIC2_HUMAN			Transcript			.	ENSP00000262765		CCDS32741.1			1	
KMT2A	0	LGGM	GRCh37	11	118348792	118348792	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	78	57	.	.	ENST00000534358.1:c.3445G>T	p.Gly1149Ter	p.G1149*	ENST00000534358	NM_005933.3	1149	Gga/Tga	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		135	0		HGNC	p.G1149X		KMT2A		SNV			1				ENST00000354520	protein_coding	getma.org/?cm=var&var=hg19,11,118348792,G,T&fts=all		PROSITE_profiles:PS51058,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,Pfam_domain:PF02008,PIRSF_domain:PIRSF010354		G/*		T	NA	3445/13655		NA		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,stop_gained,p.Gly1149Ter,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,stop_gained,p.Gly1149Ter,ENST00000354520,;KMT2A,stop_gained,p.Gly1149Ter,ENST00000389506,;KMT2A,stop_gained,p.Gly1182Ter,ENST00000531904,;KMT2A,stop_gained,p.Gly227Ter,ENST00000533790,;KMT2A,upstream_gene_variant,,ENST00000392873,;KMT2A,downstream_gene_variant,,ENST00000527869,;KMT2A,upstream_gene_variant,,ENST00000420751,;							HIGH	3445/11910	G1149*	KMT2A_HUMAN			Transcript			.	ENSP00000374157		CCDS31686.1			1	
NAA11	0	LGGM	GRCh37	4	80246671	80246671	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	85	58	.	.	ENST00000286794.4:c.361C>A	p.Leu121Ile	p.L121I	ENST00000286794	NM_032693.2	121	Ctt/Att	0	1	1	UPI00000467CA	0	getma.org/pdb.php?prot=NAA11_HUMAN&from=46&to=129&var=L121I	ENST00000286794		ENSG00000156269	28125		143	3.535		HGNC	p.L3I		NAA11		SNV							ENST00000511542	protein_coding	getma.org/?cm=var&var=hg19,4,80246671,G,T&fts=all		Gene3D:3.40.630.30,Pfam_domain:PF00583,PROSITE_profiles:PS51186,hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF205,Superfamily_domains:SSF55729		L/I		T	high	534/2014		getma.org/?cm=msa&ty=f&p=NAA11_HUMAN&rb=46&re=129&var=L121I	deleterious(0)	H0Y8T0_HUMAN			YES	NAA11,missense_variant,p.Leu121Ile,ENST00000286794,NM_032693.2;NAA11,upstream_gene_variant,,ENST00000513733,;NAA11,missense_variant,p.Leu3Ile,ENST00000511542,;							MODERATE	361/690	L121I	NAA11_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000286794		CCDS47084.1			1	
CSF2RB	0	LGGM	GRCh37	22	37334338	37334338	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	45	60	.	.	ENST00000403662.3:c.2488C>T	p.Pro830Ser	p.P830S	ENST00000403662		830	Ccc/Tcc	0	1	1	UPI0000128C9F	0	NA	ENST00000403662		ENSG00000100368	2436		105	-0.6		HGNC	p.P836S		CSF2RB		SNV			1				ENST00000262825	protein_coding	getma.org/?cm=var&var=hg19,22,37334338,C,T&fts=all		PIRSF_domain:PIRSF001956,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,Low_complexity_(Seg):seg		P/S		T	neutral	2710/4863		getma.org/?cm=msa&ty=f&p=IL3RB_HUMAN&rb=827&re=897&var=P830S	tolerated(0.45)	B0QY07_HUMAN			YES	CSF2RB,missense_variant,p.Pro836Ser,ENST00000262825,NM_000395.2;CSF2RB,missense_variant,p.Pro830Ser,ENST00000403662,;CSF2RB,missense_variant,p.Pro836Ser,ENST00000406230,;CSF2RB,missense_variant,p.Pro777Ser,ENST00000536485,;							MODERATE	2488/2694	P830S	IL3RB_HUMAN			Transcript		benign(0.014)	.	ENSP00000384053		CCDS13936.1			1	
PAF1	0	LGGM	GRCh37	19	39877030	39877030	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	69	62	.	.	ENST00000221265.3:c.1197G>T	p.Glu399Asp	p.E399D	ENST00000221265	NM_019088.3	399	gaG/gaT	0	1	1	UPI000006D489	0	NA	ENST00000221265		ENSG00000006712	25459		131	0.455		HGNC	p.E399D		PAF1		SNV							ENST00000221265	protein_coding	getma.org/?cm=var&var=hg19,19,39877030,C,A&fts=all		Pfam_domain:PF03985,hmmpanther:PTHR23188,Low_complexity_(Seg):seg		E/D		A	neutral	1528/2066		getma.org/?cm=msa&ty=f&p=PAF1_HUMAN&rb=27&re=446&var=E399D	tolerated(0.09)				YES	PAF1,missense_variant,p.Glu399Asp,ENST00000221265,NM_019088.3;PAF1,missense_variant,p.Glu86Asp,ENST00000595379,;PAF1,intron_variant,,ENST00000595564,NM_001256826.1;PAF1,intron_variant,,ENST00000221266,;SAMD4B,downstream_gene_variant,,ENST00000314471,NM_018028.2;MED29,upstream_gene_variant,,ENST00000315588,NM_017592.1;SAMD4B,downstream_gene_variant,,ENST00000598913,;SAMD4B,downstream_gene_variant,,ENST00000596368,;SAMD4B,downstream_gene_variant,,ENST00000598605,;MED29,upstream_gene_variant,,ENST00000599417,;PAF1,downstream_gene_variant,,ENST00000416728,;PAF1,downstream_gene_variant,,ENST00000595797,;PAF1,downstream_gene_variant,,ENST00000597365,;SAMD4B,downstream_gene_variant,,ENST00000596271,;PAF1,downstream_gene_variant,,ENST00000598127,;MED29,upstream_gene_variant,,ENST00000600973,;PAF1,downstream_gene_variant,,ENST00000598594,;							MODERATE	1197/1596	E399D	PAF1_HUMAN			Transcript		unknown(0)	.	ENSP00000221265		CCDS12533.1			1	
TANGO6	0	LGGM	GRCh37	16	68961786	68961786	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	97	72	.	.	ENST00000261778.1:c.2443A>G	p.Ile815Val	p.I815V	ENST00000261778	NM_024562.1	815	Atc/Gtc	0	1	1	UPI00001FF4A8	0	NA	ENST00000261778		ENSG00000103047	25749		169	-0.345		HGNC	p.I815V		TANGO6		SNV							ENST00000261778	protein_coding	getma.org/?cm=var&var=hg19,16,68961786,A,G&fts=all		hmmpanther:PTHR20959,hmmpanther:PTHR20959:SF1		I/V		G	neutral	2455/4816		getma.org/?cm=msa&ty=f&p=TMCO7_HUMAN&rb=801&re=833&var=I815V	tolerated(0.56)	B3KTB6_HUMAN			YES	TANGO6,missense_variant,p.Ile815Val,ENST00000261778,NM_024562.1;RP11-521L9.1,intron_variant,,ENST00000562790,;TANGO6,downstream_gene_variant,,ENST00000561856,;							MODERATE	2443/3285	I815V	TNG6_HUMAN			Transcript		benign(0)	.	ENSP00000261778		CCDS45516.1			1	
ALS2CR11	0	LGGM	GRCh37	2	202358408	202358408	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	92	79	.	.	ENST00000439140.1:c.2656G>T	p.Glu886Ter	p.E886*	ENST00000439140	NM_001168221.1	886	Gaa/Taa	0	1		UPI000013DE33	0	NA	ENST00000286195		ENSG00000155754	14438		171	0		HGNC	p.E886X	COSM3838290	ALS2CR11		SNV						1	ENST00000439140	protein_coding	getma.org/?cm=var&var=hg19,2,202358408,C,A&fts=all						A	NA	-/2104		NA						ALS2CR11,stop_gained,p.Glu886Ter,ENST00000439140,NM_001168221.1;ALS2CR11,intron_variant,,ENST00000286195,NM_152525.5;ALS2CR11,intron_variant,,ENST00000439802,NM_001168216.1;ALS2CR11,intron_variant,,ENST00000482942,;					1		MODIFIER	-/1872	E886*	AL2SA_HUMAN			Transcript			.	ENSP00000286195		CCDS2349.1			1	
DNAJC18	0	LGGM	GRCh37	5	138764354	138764354	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	85	80	.	.	ENST00000302060.5:c.246T>A	p.Asn82Lys	p.N82K	ENST00000302060	NM_152686.3	82	aaT/aaA	0	1	1	UPI00000375B2	0	getma.org/pdb.php?prot=DJC18_HUMAN&from=82&to=143&var=N82K	ENST00000302060		ENSG00000170464	28429		165	2.05		HGNC	p.I20N		DNAJC18		SNV							ENST00000505568	protein_coding	getma.org/?cm=var&var=hg19,5,138764354,A,T&fts=all		Superfamily_domains:SSF46565,SMART_domains:SM00271,Gene3D:1.10.287.110,Pfam_domain:PF00226,hmmpanther:PTHR24078:SF15,hmmpanther:PTHR24078,PROSITE_profiles:PS50076		N/K		T	medium	327/5103		getma.org/?cm=msa&ty=f&p=DJC18_HUMAN&rb=82&re=143&var=N82K	deleterious(0.01)	D6REJ9_HUMAN,D6RCS7_HUMAN,D6RB03_HUMAN			YES	DNAJC18,missense_variant,p.Asn82Lys,ENST00000302060,NM_152686.3;DNAJC18,missense_variant,p.Asn82Lys,ENST00000515581,;DNAJC18,missense_variant,p.Asn82Lys,ENST00000515277,;DNAJC18,upstream_gene_variant,,ENST00000508445,;DNAJC18,upstream_gene_variant,,ENST00000514052,;DNAJC18,non_coding_transcript_exon_variant,,ENST00000507405,;DNAJC18,missense_variant,p.Ile20Asn,ENST00000505568,;DNAJC18,intron_variant,,ENST00000506870,;							MODERATE	246/1077	N82K	DJC18_HUMAN			Transcript		benign(0.16)	.	ENSP00000302843		CCDS4214.1			1	
KIF13A	0	LGGM	GRCh37	6	17765145	17765145	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080486	H080486N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	40	82	.	.	ENST00000259711.6:c.4614T>G	p.Ala1538=	p.A1538=	ENST00000259711	NM_022113.5	1538	gcT/gcG	0	1	1	UPI0000E20DA3	0		ENST00000259711		ENSG00000137177	14566		122			HGNC	p.A1538A		KIF13A		SNV							ENST00000259711	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		A		C		4720/5941							YES	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.=,ENST00000502297,;							LOW	4614/5418		KI13A_HUMAN			Transcript			.	ENSP00000259711		CCDS47381.1			1	
AHNAK2	0	LGGM	GRCh37	14	105416285	105416285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080486	H080486N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	162	84	.	.	ENST00000333244.5:c.5503G>T	p.Val1835Leu	p.V1835L	ENST00000333244	NM_138420.2	1835	Gtg/Ttg	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		246	1.035		HGNC	p.V1835L	rs751586187	AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105416285,C,A&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		V/L		A	low	5623/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1801&re=2000&var=V1835L					YES	AHNAK2,missense_variant,p.Val1835Leu,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;	0.000927						MODERATE	5503/17388	V1835L	AHNK2_HUMAN			Transcript		benign(0.068)	common_variant	ENSP00000353114	6.65E-05	CCDS45177.1			1	
CSNK1A1	0	LGGM	GRCh37	5	148904662	148904662	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080486	H080486N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080486N.bam, H080486T.bam	Illumina HiSeq	13	99	.	.	ENST00000515768.1:c.303C>G	p.Phe101Leu	p.F101L	ENST00000515768		101	ttC/ttG	0	1		UPI000000412B	0	getma.org/pdb.php?prot=KC1A_HUMAN&from=17&to=292&var=F101L	ENST00000377843		ENSG00000113712	2451		112	1.66		HGNC	p.F101L		CSNK1A1		SNV							ENST00000377843	protein_coding	getma.org/?cm=var&var=hg19,5,148904662,G,C&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF84,SMART_domains:SM00220,Superfamily_domains:SSF56112		F/L		C	low	783/3065		getma.org/?cm=msa&ty=f&p=KC1A_HUMAN&rb=17&re=292&var=F101L	deleterious_low_confidence(0.04)	U3KQ83_HUMAN,U3KPX3_HUMAN,B4E1D9_HUMAN				CSNK1A1,missense_variant,p.Phe101Leu,ENST00000261798,;CSNK1A1,missense_variant,p.Phe101Leu,ENST00000377843,NM_001271741.1,NM_001892.5,NM_001025105.2;CSNK1A1,missense_variant,p.Phe12Leu,ENST00000515435,NM_001271742.1;CSNK1A1,missense_variant,p.Phe12Leu,ENST00000504676,;CSNK1A1,missense_variant,p.Phe101Leu,ENST00000515768,;CSNK1A1,downstream_gene_variant,,ENST00000523203,;							MODERATE	303/1014	F101L	KC1A_HUMAN			Transcript		benign(0.038)	.	ENSP00000367074		CCDS47303.1			1	
CASZ1	0	LGGM	GRCh37	1	10720468	10720468	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	9	2	.	.	ENST00000377022.3:c.631G>C	p.Ala211Pro	p.A211P	ENST00000377022	NM_001079843.2	211	Gcg/Ccg	0	1	1	UPI0000EBB7D6	0	NA	ENST00000377022		ENSG00000130940	26002		11	0.895		HGNC	p.A211P		CASZ1		SNV							ENST00000377022	protein_coding	getma.org/?cm=var&var=hg19,1,10720468,C,G&fts=all		hmmpanther:PTHR12451		A/P		G	low	949/7936		getma.org/?cm=msa&ty=f&p=CASZ1_HUMAN&rb=201&re=400&var=A211P	tolerated_low_confidence(0.12)				YES	CASZ1,missense_variant,p.Ala211Pro,ENST00000377022,NM_001079843.2;CASZ1,missense_variant,p.Ala211Pro,ENST00000344008,NM_017766.4;CASZ1,downstream_gene_variant,,ENST00000478728,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,non_coding_transcript_exon_variant,,ENST00000492173,;							MODERATE	631/5280	A211P	CASZ1_HUMAN			Transcript		benign(0.18)	.	ENSP00000366221		CCDS41246.1			1	
LAMC3	0	LGGM	GRCh37	9	133967011	133967011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	2	2	.	.	ENST00000361069.4:c.4565C>A	p.Pro1522Gln	p.P1522Q	ENST00000361069	NM_006059.3	1522	cCg/cAg	0	1	1	UPI000013D6D3	0	NA	ENST00000361069		ENSG00000050555	6494		4	1.085		HGNC	p.P1522Q	COSM607980	LAMC3		SNV			1			1	ENST00000361069	protein_coding	getma.org/?cm=var&var=hg19,9,133967011,C,A&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240		P/Q		A	low	4698/6133		getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=1083&re=1573&var=P1522Q	tolerated(0.14)	Q5JTC4_HUMAN			YES	LAMC3,missense_variant,p.Pro1522Gln,ENST00000361069,NM_006059.3;LAMC3,missense_variant,p.Pro204Gln,ENST00000355452,;AIF1L,upstream_gene_variant,,ENST00000372309,NM_001185095.1;AIF1L,upstream_gene_variant,,ENST00000247291,NM_031426.3;AIF1L,upstream_gene_variant,,ENST00000372302,;AIF1L,upstream_gene_variant,,ENST00000372300,NM_001185096.1;AIF1L,upstream_gene_variant,,ENST00000372298,;LAMC3,non_coding_transcript_exon_variant,,ENST00000462567,;LAMC3,intron_variant,,ENST00000480883,;AIF1L,upstream_gene_variant,,ENST00000472942,;AIF1L,upstream_gene_variant,,ENST00000372314,;					1		MODERATE	4565/4728	P1522Q	LAMC3_HUMAN			Transcript		benign(0.062)	.	ENSP00000354360		CCDS6938.1			1	
CCDC61	0	LGGM	GRCh37	19	46518639	46518639	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	4	2	.	.	ENST00000595358.1:c.799del	p.Ala267ProfsTer3	p.A267Pfs*3	ENST00000595358	NM_001267723.1	267	Gcc/cc	0	1	1	UPI000040C0FF	0		ENST00000595358		ENSG00000104983	33629		6			HGNC	p.A324fs		CCDC61		deletion							ENST00000263284	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22691:SF1,hmmpanther:PTHR22691		A/X		-		848/1817				M0R0U9_HUMAN,M0QYL5_HUMAN,M0QY15_HUMAN			YES	CCDC61,frameshift_variant,p.Ala324ProfsTer3,ENST00000263284,;CCDC61,frameshift_variant,p.Ala267ProfsTer3,ENST00000595358,NM_001267723.1;CCDC61,intron_variant,,ENST00000536603,;CCDC61,intron_variant,,ENST00000594087,;PGLYRP1,downstream_gene_variant,,ENST00000008938,NM_005091.2;MIR769,upstream_gene_variant,,ENST00000390225,;CCDC61,upstream_gene_variant,,ENST00000601763,;CCDC61,3_prime_UTR_variant,,ENST00000596687,;CCDC61,downstream_gene_variant,,ENST00000599044,;							HIGH	799/1539					Transcript			.	ENSP00000471454		CCDS46120.2			1	
CLEC7A	0	LGGM	GRCh37	12	10280417	10280417	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	1	2	.	.	ENST00000304084.8:c.131G>T	p.Arg44Leu	p.R44L	ENST00000304084	NM_197947.2	44	cGc/cTc	0	1	1	UPI0000073FA0	0	NA	ENST00000304084		ENSG00000172243	14558		3	2.585		HGNC	p.R44L		CLEC7A		SNV			1				ENST00000298523	protein_coding	getma.org/?cm=var&var=hg19,12,10280417,C,A&fts=all		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF4,Transmembrane_helices:TMhelix		R/L		A	medium	286/1130		getma.org/?cm=msa&ty=f&p=CLC7A_HUMAN&rb=1&re=136&var=R44L	tolerated(0.15)				YES	CLEC7A,missense_variant,p.Arg44Leu,ENST00000353231,NM_022570.4;CLEC7A,missense_variant,p.Arg44Leu,ENST00000298523,NM_197949.2;CLEC7A,missense_variant,p.Arg44Leu,ENST00000304084,NM_197947.2;CLEC7A,missense_variant,p.Arg44Leu,ENST00000533022,NM_197948.2;CLEC7A,missense_variant,p.Arg44Leu,ENST00000525605,;CLEC7A,missense_variant,p.Arg44Leu,ENST00000310002,NM_197954.2;CLEC7A,intron_variant,,ENST00000396484,NM_197950.2;CLEC7A,missense_variant,p.Arg44Leu,ENST00000529761,;CLEC7A,missense_variant,p.Arg44Leu,ENST00000531192,;CLEC7A,missense_variant,p.Arg44Leu,ENST00000465100,;CLEC7A,non_coding_transcript_exon_variant,,ENST00000534609,;CLEC7A,non_coding_transcript_exon_variant,,ENST00000528799,;CLEC7A,intron_variant,,ENST00000349926,;							MODERATE	131/744	R44L	CLC7A_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000302569		CCDS41753.1			1	
GRM5	0	LGGM	GRCh37	11	88241883	88241883	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	2	2	.	.	ENST00000418177.2:c.3516G>C	p.Ser1172=	p.S1172=	ENST00000418177		1172	tcG/tcC	0	1		UPI000012F081	0		ENST00000305447		ENSG00000168959	4597		4			HGNC	p.S1172S		GRM5		SNV							ENST00000418177	protein_coding			Pfam_domain:PF10606		S		G		3666/4571								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,;GRM5-AS1,non_coding_transcript_exon_variant,,ENST00000526448,;GRM5-AS1,upstream_gene_variant,,ENST00000531994,;							LOW	3516/3639		GRM5_HUMAN			Transcript			.	ENSP00000306138		CCDS44694.1			1	
DCTN2	0	LGGM	GRCh37	12	57937928	57937928	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	47	3	.	.	ENST00000434715.3:c.105+1883G>T		*35*	ENST00000434715	NM_006400.4			0	1		UPI000012901A	0		ENST00000548249		ENSG00000175203	2712		50			HGNC	-		DCTN2		SNV							ENST00000543672	protein_coding							A		-/2061				A8K8J9_HUMAN				DCTN2,splice_acceptor_variant,,ENST00000543672,;DCTN2,intron_variant,,ENST00000548249,NM_001261412.1,NM_001261413.1;DCTN2,intron_variant,,ENST00000434715,NM_006400.4;DCTN2,intron_variant,,ENST00000550954,;DCTN2,intron_variant,,ENST00000546670,;DCTN2,intron_variant,,ENST00000550750,;DCTN2,upstream_gene_variant,,ENST00000537439,;DCTN2,intron_variant,,ENST00000546559,;DCTN2,downstream_gene_variant,,ENST00000549712,;DCTN2,intron_variant,,ENST00000550201,;DCTN2,intron_variant,,ENST00000549394,;DCTN2,intron_variant,,ENST00000547480,;DCTN2,intron_variant,,ENST00000547345,;							MODIFIER	-/1206		DCTN2_HUMAN			Transcript			.	ENSP00000447824		CCDS58245.1			1	
SLC25A48	0	LGGM	GRCh37	5	135207219	135207219	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	38	3	.	.	ENST00000412661.2:c.422-16502G>T		*141*	ENST00000412661	NM_145282.4			0	1	1	UPI000006FF97	0		ENST00000412661		ENSG00000145832	30451		41			HGNC	p.C110F		SLC25A48		SNV							ENST00000433282	protein_coding							T		-/1148							YES	SLC25A48,missense_variant,p.Cys164Phe,ENST00000274513,;SLC25A48,missense_variant,p.Cys110Phe,ENST00000433282,;SLC25A48,missense_variant,p.Cys164Phe,ENST00000420621,;SLC25A48,intron_variant,,ENST00000425402,;SLC25A48,intron_variant,,ENST00000412661,NM_145282.4;SLC25A48,3_prime_UTR_variant,,ENST00000462340,;							MODIFIER	-/474		S2548_HUMAN			Transcript			.	ENSP00000413049		CCDS43366.2			1	
SLC52A1	0	LGGM	GRCh37	17	4936673	4936673	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	24	3	.	.	ENST00000424747.1:c.1017G>T	p.Leu339=	p.L339=	ENST00000424747	NM_001104577.1	339	ctG/ctT	0	1		UPI000013CE68	0		ENST00000254853		ENSG00000132517	30225		27			HGNC	p.L339L		SLC52A1		SNV			1				ENST00000254853	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF5,Pfam_domain:PF06237		L		A		1690/2377								SLC52A1,synonymous_variant,p.=,ENST00000424747,NM_001104577.1;SLC52A1,synonymous_variant,p.=,ENST00000254853,NM_017986.3;SLC52A1,intron_variant,,ENST00000512825,;KIF1C,downstream_gene_variant,,ENST00000320785,NM_006612.5;SLC52A1,non_coding_transcript_exon_variant,,ENST00000573674,;SLC52A1,non_coding_transcript_exon_variant,,ENST00000575919,;							LOW	1017/1347		S52A1_HUMAN			Transcript			.	ENSP00000254853		CCDS11066.1			1	
BAZ1B	0	LGGM	GRCh37	7	72883974	72883974	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	31	3	.	.	ENST00000339594.4:c.2739G>T	p.Trp913Cys	p.W913C	ENST00000339594	NM_032408.3	913	tgG/tgT	0	1	1	UPI0000126731	0	NA	ENST00000339594		ENSG00000009954	961		34	2.045		HGNC	p.W913C		BAZ1B		SNV			1				ENST00000404251	protein_coding	getma.org/?cm=var&var=hg19,7,72883974,C,A&fts=all		Pfam_domain:PF15613,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF60		W/C		A	medium	3078/6102		getma.org/?cm=msa&ty=f&p=BAZ1B_HUMAN&rb=721&re=920&var=W913C	deleterious(0)				YES	BAZ1B,missense_variant,p.Trp913Cys,ENST00000339594,NM_032408.3;BAZ1B,missense_variant,p.Trp913Cys,ENST00000404251,;BAZ1B,upstream_gene_variant,,ENST00000466844,;							MODERATE	2739/4452	W913C	BAZ1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342434		CCDS5549.1			1	
COL9A2	0	LGGM	GRCh37	1	40771823	40771823	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	27	3	.	.	ENST00000372748.3:c.1045G>T	p.Gly349Ter	p.G349*	ENST00000372748	NM_001852.3	349	Gga/Tga	0	1	1	UPI0000126D47	0	NA	ENST00000372748		ENSG00000049089	2218		30	0		HGNC	p.G349X		COL9A2		SNV			1				ENST00000372748	protein_coding	getma.org/?cm=var&var=hg19,1,40771823,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF18,hmmpanther:PTHR24021,Pfam_domain:PF01391		G/*		A	NA	1142/2862		NA		D3DPU8_HUMAN			YES	COL9A2,stop_gained,p.Gly349Ter,ENST00000372748,NM_001852.3;COL9A2,downstream_gene_variant,,ENST00000417105,;COL9A2,upstream_gene_variant,,ENST00000427563,;COL9A2,upstream_gene_variant,,ENST00000466267,;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,;COL9A2,downstream_gene_variant,,ENST00000488463,;							HIGH	1045/2070	G349*	CO9A2_HUMAN			Transcript			.	ENSP00000361834		CCDS450.1			1	
PTCD3	0	LGGM	GRCh37	2	86355070	86355070	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	39	3	.	.	ENST00000254630.7:c.1103C>A	p.Ser368Ter	p.S368*	ENST00000254630	NM_017952.5	368	tCg/tAg	0	1	1	UPI0000208870	0	NA	ENST00000254630		ENSG00000132300	24717		42	0		HGNC	p.S368X		PTCD3		SNV							ENST00000254630	protein_coding	getma.org/?cm=var&var=hg19,2,86355070,C,A&fts=all		hmmpanther:PTHR16276,hmmpanther:PTHR16276:SF0		S/*		A	NA	1169/6734		NA					YES	PTCD3,stop_gained,p.Ser368Ter,ENST00000254630,NM_017952.5;PTCD3,downstream_gene_variant,,ENST00000409277,;PTCD3,upstream_gene_variant,,ENST00000494323,;PTCD3,non_coding_transcript_exon_variant,,ENST00000487043,;PTCD3,non_coding_transcript_exon_variant,,ENST00000464541,;PTCD3,non_coding_transcript_exon_variant,,ENST00000476215,;PTCD3,downstream_gene_variant,,ENST00000484203,;PTCD3,upstream_gene_variant,,ENST00000469585,;PTCD3,upstream_gene_variant,,ENST00000493430,;PTCD3,upstream_gene_variant,,ENST00000467273,;PTCD3,downstream_gene_variant,,ENST00000480102,;							HIGH	1103/2070	S368*	PTCD3_HUMAN			Transcript			.	ENSP00000254630		CCDS33235.1			1	
SEZ6L2	0	LGGM	GRCh37	16	29899937	29899937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	29	3	.	.	ENST00000308713.5:c.963G>T	p.Gln321His	p.Q321H	ENST00000308713	NM_001114099.2	321	caG/caT	0	1	1	UPI0000366B1B	0	getma.org/pdb.php?prot=SE6L2_HUMAN&from=290&to=345&var=Q321H	ENST00000308713		ENSG00000174938	30844		32	1.03		HGNC	p.Q321H		SEZ6L2		SNV							ENST00000308713	protein_coding	getma.org/?cm=var&var=hg19,16,29899937,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		Q/H		A	low	1491/3801		getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=290&re=345&var=Q321H	tolerated(0.21)	B3KNF3_HUMAN			YES	SEZ6L2,missense_variant,p.Gln321His,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Gln251His,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Gln207His,ENST00000346932,NM_001114100.2;SEZ6L2,missense_variant,p.Gln277His,ENST00000537485,NM_001243333.1;SEZ6L2,upstream_gene_variant,,ENST00000563118,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;SEZ6L2,upstream_gene_variant,,ENST00000568407,;							MODERATE	963/2733	Q321H	SE6L2_HUMAN			Transcript		benign(0.062)	.	ENSP00000312550		CCDS10659.1			1	
C8orf76	0	LGGM	GRCh37	8	124250093	124250093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	26	3	.	.	ENST00000276704.4:c.302G>T	p.Arg101Leu	p.R101L	ENST00000276704	NM_032847.2	101	cGg/cTg	0	1	1	UPI000006E851	0	NA	ENST00000276704		ENSG00000189376	25924		29	2.51		HGNC	p.R101L	rs749570313	C8orf76		SNV							ENST00000276704	protein_coding	getma.org/?cm=var&var=hg19,8,124250093,C,A&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1,Superfamily_domains:SSF48452		R/L		A	medium	354/1342	1.50E-05	getma.org/?cm=msa&ty=f&p=ZHX1R_HUMAN&rb=1&re=200&var=R69L	deleterious(0)				YES	C8orf76,missense_variant,p.Arg101Leu,ENST00000276704,NM_032847.2;ZHX1-C8ORF76,missense_variant,p.Arg69Leu,ENST00000357082,NM_001204180.1;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000519791,;C8orf76,downstream_gene_variant,,ENST00000522477,;C8orf76,non_coding_transcript_exon_variant,,ENST00000518996,;C8orf76,downstream_gene_variant,,ENST00000523726,;UBA52P5,downstream_gene_variant,,ENST00000461723,;							MODERATE	302/1143	R69L	CH076_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276704	8.24E-06	CCDS6341.1			1	
DLEU7	0	LGGM	GRCh37	13	51397599	51397599	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	42	3	.	.	ENST00000400393.3:c.459+19725C>A		*153*	ENST00000400393	NM_198989.2			0	1		UPI0000225CA2	0		ENST00000504404		ENSG00000186047	17567		45			HGNC	p.Q173K		DLEU7		SNV							ENST00000504404	protein_coding					Q/K		T		567/1122			tolerated(0.08)					DLEU7,missense_variant,p.Gln173Lys,ENST00000504404,;DLEU7,intron_variant,,ENST00000400393,NM_198989.2;DLEU7-AS1,intron_variant,,ENST00000413510,;							MODERATE	517/666		LEU7_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000427177					1	
KIF3C	0	LGGM	GRCh37	2	26203517	26203517	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	29	3	.	.	ENST00000264712.3:c.1270G>T	p.Gly424Cys	p.G424C	ENST00000264712	NM_002254.6	424	Ggc/Tgc	0	1	1	UPI000013D55A	0	NA	ENST00000264712		ENSG00000084731	6321		32	1.5		HGNC	p.G424C		KIF3C		SNV							ENST00000417737	protein_coding	getma.org/?cm=var&var=hg19,2,26203517,C,A&fts=all		hmmpanther:PTHR24115:SF349,hmmpanther:PTHR24115		G/C		A	low	1850/5338		getma.org/?cm=msa&ty=f&p=KIF3C_HUMAN&rb=366&re=492&var=G424C					YES	KIF3C,missense_variant,p.Gly424Cys,ENST00000264712,NM_002254.6;KIF3C,missense_variant,p.Gly424Cys,ENST00000405914,;KIF3C,missense_variant,p.Gly424Cys,ENST00000455394,;KIF3C,missense_variant,p.Gly424Cys,ENST00000417737,;KIF3C,upstream_gene_variant,,ENST00000475453,;							MODERATE	1270/2382	G424C	KIF3C_HUMAN			Transcript		benign(0.061)	.	ENSP00000264712		CCDS1719.1			1	
ACBD7	0	LGGM	GRCh37	10	15120735	15120735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	35	3	.	.	ENST00000356189.5:c.148G>T	p.Asp50Tyr	p.D50Y	ENST00000356189	NM_001039844.2	50	Gat/Tat	0	1	1	UPI000006F409	0		ENST00000356189		ENSG00000176244	17715		38			HGNC	p.D50Y		ACBD7		SNV							ENST00000356189	protein_coding			Gene3D:1.20.80.10,Pfam_domain:PF00887,Prints_domain:PR00689,PROSITE_profiles:PS51228,hmmpanther:PTHR23310,hmmpanther:PTHR23310:SF51,Superfamily_domains:SSF47027		D/Y		A		196/1322			deleterious(0.01)				YES	ACBD7,missense_variant,p.Asp50Tyr,ENST00000356189,NM_001039844.2;OLAH,downstream_gene_variant,,ENST00000378217,NM_018324.2;OLAH,downstream_gene_variant,,ENST00000378228,NM_001039702.2;ACBD7,non_coding_transcript_exon_variant,,ENST00000496890,;DCLRE1CP1,intron_variant,,ENST00000378211,;							MODERATE	148/267		ACBD7_HUMAN			Transcript		possibly_damaging(0.746)	.	ENSP00000367453		CCDS31153.1			1	
FBXO22	0	LGGM	GRCh37	15	76205616	76205616	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	47	3	.	.	ENST00000308275.3:c.352C>A	p.Arg118Ser	p.R118S	ENST00000308275	NM_147188.2	118	Cgt/Agt	0	1	1	UPI0000049FDF	0	NA	ENST00000308275		ENSG00000167196	13593		50	0.695		HGNC	p.R14S		FBXO22		SNV							ENST00000569054	protein_coding	getma.org/?cm=var&var=hg19,15,76205616,C,A&fts=all		hmmpanther:PTHR14939,hmmpanther:PTHR14939:SF4		R/S		A	neutral	457/3483		getma.org/?cm=msa&ty=f&p=FBX22_HUMAN&rb=68&re=134&var=R118S	tolerated(0.39)	H3BUC1_HUMAN,H3BTR7_HUMAN,H3BRE0_HUMAN			YES	FBXO22,missense_variant,p.Arg118Ser,ENST00000308275,NM_147188.2;FBXO22,missense_variant,p.Arg118Ser,ENST00000453211,NM_012170.3;FBXO22,missense_variant,p.Arg14Ser,ENST00000540507,;FBXO22,missense_variant,p.Arg14Ser,ENST00000569054,;FBXO22,missense_variant,p.Arg112Ser,ENST00000565036,;FBXO22,downstream_gene_variant,,ENST00000565131,;FBXO22,missense_variant,p.Arg4Ser,ENST00000561885,;FBXO22,3_prime_UTR_variant,,ENST00000569022,;FBXO22,intron_variant,,ENST00000569749,;							MODERATE	352/1212	R118S	FBX22_HUMAN			Transcript		benign(0.196)	.	ENSP00000307833		CCDS10287.1			1	
CGNL1	0	LGGM	GRCh37	15	57815714	57815714	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	19	3	.	.	ENST00000281282.5:c.2743C>A	p.Gln915Lys	p.Q915K	ENST00000281282	NM_032866.4	915	Cag/Aag	0	1	1	UPI000019B4EF	0	NA	ENST00000281282		ENSG00000128849	25931		22	1.95		HGNC	p.Q915K		CGNL1		SNV			1				ENST00000281282	protein_coding	getma.org/?cm=var&var=hg19,15,57815714,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF357,hmmpanther:PTHR13140		Q/K		A	medium	2821/7224		getma.org/?cm=msa&ty=f&p=CGNL1_HUMAN&rb=611&re=969&var=Q915K	tolerated(0.15)				YES	CGNL1,missense_variant,p.Gln915Lys,ENST00000281282,NM_032866.4,NM_001252335.1;CTD-2515H24.4,downstream_gene_variant,,ENST00000566990,;							MODERATE	2743/3909	Q915K	CGNL1_HUMAN			Transcript		benign(0.04)	.	ENSP00000281282		CCDS10161.1			1	
PRTG	0	LGGM	GRCh37	15	55970205	55970205	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	16	3	.	.	ENST00000389286.4:c.1171G>T	p.Ala391Ser	p.A391S	ENST00000389286	NM_173814.4	391	Gct/Tct	0	1	1	UPI00001555A7	0	getma.org/pdb.php?prot=PRTG_HUMAN&from=327&to=412&var=A391S	ENST00000389286		ENSG00000166450	26373		19	2.135		HGNC	p.A391S		PRTG		SNV							ENST00000389286	protein_coding	getma.org/?cm=var&var=hg19,15,55970205,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF20,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/S		A	medium	1219/11967		getma.org/?cm=msa&ty=f&p=PRTG_HUMAN&rb=327&re=412&var=A391S	deleterious(0.02)	H0YKD6_HUMAN			YES	PRTG,missense_variant,p.Ala391Ser,ENST00000389286,NM_173814.4;PRTG,upstream_gene_variant,,ENST00000561465,;RP11-420M1.2,upstream_gene_variant,,ENST00000561155,;PRTG,downstream_gene_variant,,ENST00000559842,;							MODERATE	1171/3453	A391S	PRTG_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000373937		CCDS42040.1			1	
CDH5	0	LGGM	GRCh37	16	66420829	66420829	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	11	3	.	.	ENST00000341529.3:c.328C>A	p.Arg110=	p.R110=	ENST00000341529	NM_001795.3	110	Cgg/Agg	0	1	1	UPI000016B272	0		ENST00000341529		ENSG00000179776	1764		14			HGNC	p.R110R	rs542903669	CDH5		SNV							ENST00000562048	protein_coding		A:0	Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313		R		A		476/4117	4.50E-05			Q59EA3_HUMAN,I3L1J2_HUMAN,H3BR64_HUMAN,H3BPG1_HUMAN,B4DTR2_HUMAN	A:0	A:0	YES	CDH5,synonymous_variant,p.=,ENST00000341529,NM_001795.3;CDH5,synonymous_variant,p.=,ENST00000563425,;CDH5,synonymous_variant,p.=,ENST00000562048,;CDH5,downstream_gene_variant,,ENST00000568155,;CDH5,intron_variant,,ENST00000565334,;		A:0.0002					LOW	328/2355		CADH5_HUMAN		A:0.001	Transcript			.	ENSP00000344115	2.47E-05	CCDS10804.1		A:0	1	
SPIC	0	LGGM	GRCh37	12	101873372	101873372	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080503	H080503N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	28	3	.	.	ENST00000551346.1:c.110A>T	p.Tyr37Phe	p.Y37F	ENST00000551346		37	tAc/tTc	0	1	1	UPI0000073CD8	0	NA	ENST00000551346		ENSG00000166211	29549		31	1.845		HGNC	p.Y37F		SPIC		SNV							ENST00000551346	protein_coding	getma.org/?cm=var&var=hg19,12,101873372,A,T&fts=all		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF17		Y/F		T	low	269/1132		getma.org/?cm=msa&ty=f&p=SPIC_HUMAN&rb=1&re=109&var=Y37F	tolerated(0.23)				YES	SPIC,missense_variant,p.Tyr37Phe,ENST00000551346,;SPIC,missense_variant,p.Tyr37Phe,ENST00000299272,NM_152323.1;							MODERATE	110/747	Y37F	SPIC_HUMAN			Transcript		possibly_damaging(0.529)	.	ENSP00000448580		CCDS9082.1			1	
GIMAP8	0	LGGM	GRCh37	7	150164160	150164160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	22	3	.	.	ENST00000307271.3:c.374C>A	p.Ala125Asp	p.A125D	ENST00000307271	NM_175571.2	125	gCc/gAc	0	1	1	UPI0000168646	0	getma.org/pdb.php?prot=GIMA8_HUMAN&from=11&to=220&var=A125D	ENST00000307271		ENSG00000171115	21792		25	3.43		HGNC	p.A125D		GIMAP8		SNV							ENST00000307271	protein_coding	getma.org/?cm=var&var=hg19,7,150164160,C,A&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF45,PROSITE_profiles:PS51720		A/D		A	medium	948/4184		getma.org/?cm=msa&ty=f&p=GIMA8_HUMAN&rb=11&re=220&var=A125D	deleterious(0)				YES	GIMAP8,missense_variant,p.Ala125Asp,ENST00000307271,NM_175571.2;							MODERATE	374/1998	A125D	GIMA8_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000305107		CCDS34777.1			1	
EP400	0	LGGM	GRCh37	12	132561127	132561127	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	41	3	.	.	ENST00000389561.2:c.9088G>C	p.Ala3030Pro	p.A3030P	ENST00000389561	NM_015409.4	3030	Gct/Cct	0	1	1	UPI00004566BC	0	NA	ENST00000389561		ENSG00000183495	11958		44	0.55		HGNC	p.A3030P		EP400		SNV							ENST00000541296	protein_coding	getma.org/?cm=var&var=hg19,12,132561127,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		A/P		C	neutral	9197/12268		getma.org/?cm=msa&ty=f&p=EP400_HUMAN&rb=2600&re=3157&var=A3066P					YES	EP400,missense_variant,p.Ala3066Pro,ENST00000333577,;EP400,missense_variant,p.Ala3030Pro,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Ala3029Pro,ENST00000389562,;EP400,missense_variant,p.Ala2993Pro,ENST00000332482,;EP400,missense_variant,p.Ala2949Pro,ENST00000330386,;RP13-820C6.2,downstream_gene_variant,,ENST00000542422,;							MODERATE	9088/9372	A3066P	EP400_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000374212		CCDS31929.2			1	
SLC22A24	0	LGGM	GRCh37	11	62886708	62886708	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	47	3	.	.	ENST00000417740.1:c.606G>T	p.Leu202=	p.L202=	ENST00000417740	NM_001136506.2	202	ctG/ctT	0	1		UPI0000141874	0		ENST00000326192		ENSG00000197658	28542		50			HGNC	p.L202L		SLC22A24		SNV							ENST00000531535	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Superfamily_domains:SSF103473		L		A		1048/1663								SLC22A24,synonymous_variant,p.=,ENST00000417740,NM_001136506.2;SLC22A24,synonymous_variant,p.=,ENST00000326192,;RPL29P22,upstream_gene_variant,,ENST00000498718,;							LOW	606/969		S22AO_HUMAN			Transcript			.	ENSP00000321549					1	
GPAA1	0	LGGM	GRCh37	8	145140947	145140947	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	22	3	.	.	ENST00000355091.4:c.1785C>T	p.Tyr595=	p.Y595=	ENST00000355091	NM_003801.3	595	taC/taT	0	1	1	UPI0000073ECC	0		ENST00000355091		ENSG00000197858	4446		25			HGNC	p.Y595Y	rs782295766	GPAA1	6.06E-05	SNV							ENST00000355091	protein_coding			hmmpanther:PTHR13304:SF0,hmmpanther:PTHR13304,Pfam_domain:PF04114,PIRSF_domain:PIRSF036762		Y		T		1906/2078	1.51E-05			E9PLG8_HUMAN			YES	GPAA1,synonymous_variant,p.=,ENST00000355091,NM_003801.3;GPAA1,synonymous_variant,p.=,ENST00000361036,;GPAA1,downstream_gene_variant,,ENST00000525087,;GPAA1,downstream_gene_variant,,ENST00000524418,;GPAA1,downstream_gene_variant,,ENST00000530258,;GPAA1,downstream_gene_variant,,ENST00000527144,;GPAA1,downstream_gene_variant,,ENST00000526341,;GPAA1,downstream_gene_variant,,ENST00000526233,;GPAA1,non_coding_transcript_exon_variant,,ENST00000529638,;GPAA1,non_coding_transcript_exon_variant,,ENST00000534072,;GPAA1,non_coding_transcript_exon_variant,,ENST00000530796,;GPAA1,downstream_gene_variant,,ENST00000532758,;GPAA1,downstream_gene_variant,,ENST00000528073,;GPAA1,downstream_gene_variant,,ENST00000525308,;GPAA1,downstream_gene_variant,,ENST00000529503,;GPAA1,downstream_gene_variant,,ENST00000527653,;GPAA1,downstream_gene_variant,,ENST00000530633,;GPAA1,downstream_gene_variant,,ENST00000531593,;							LOW	1785/1866		GPAA1_HUMAN			Transcript			.	ENSP00000347206	1.65E-05	CCDS43776.1			1	
HNRNPDL	0	LGGM	GRCh37	4	83350448	83350448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	39	3	.	.	ENST00000295470.5:c.396C>A	p.Phe132Leu	p.F132L	ENST00000295470	NM_001207000.1	132	ttC/ttA	0	1	1	UPI0000073377	0	NA	ENST00000295470		ENSG00000152795	5037		42	1.67		HGNC	p.F132L		HNRNPDL		SNV			1				ENST00000295470	protein_coding	getma.org/?cm=var&var=hg19,4,83350448,G,T&fts=all		hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF275		F/L		T	low	572/3781		getma.org/?cm=msa&ty=f&p=HNRDL_HUMAN&rb=90&re=149&var=F132L	deleterious(0.05)	B4DGN3_HUMAN			YES	HNRNPDL,missense_variant,p.Phe132Leu,ENST00000295470,NM_001207000.1,NM_031372.3;HNRNPDL,missense_variant,p.Phe132Leu,ENST00000502762,;HNRNPDL,missense_variant,p.Phe13Leu,ENST00000602300,;HNRNPDL,missense_variant,p.Phe13Leu,ENST00000349655,;ENOPH1,upstream_gene_variant,,ENST00000273920,NM_021204.3;ENOPH1,upstream_gene_variant,,ENST00000509635,;HNRNPDL,non_coding_transcript_exon_variant,,ENST00000514511,;ENOPH1,upstream_gene_variant,,ENST00000505846,;HNRNPDL,upstream_gene_variant,,ENST00000507721,;							MODERATE	396/1263	F132L	HNRDL_HUMAN			Transcript		benign(0.119)	.	ENSP00000295470		CCDS3593.1			1	
CTA-299D3.8	0	LGGM	GRCh37	22	48940613	48940613	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	17	3	.	.	ENST00000407505.3:c.196C>G	p.Pro66Ala	p.P66A	ENST00000407505		66	Cct/Gct	0	1	1	UPI0000161175	0		ENST00000407505		ENSG00000219016			20			Clone_based_vega_gene	p.P66A		CTA-299D3.8		SNV							ENST00000407505	protein_coding					P/A		C		730/1408				A6ZJ83_HUMAN			YES	CTA-299D3.8,missense_variant,p.Pro66Ala,ENST00000407505,;FAM19A5,intron_variant,,ENST00000402357,NM_001082967.1;FAM19A5,intron_variant,,ENST00000336769,;CTA-299D3.8,intron_variant,,ENST00000467207,;CTA-299D3.8,non_coding_transcript_exon_variant,,ENST00000463107,;							MODERATE	196/390					Transcript		possibly_damaging(0.737)	.	ENSP00000384340					1	
C9orf163	0	LGGM	GRCh37	9	139379255	139379255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	30	3	.	.	ENST00000354376.1:c.355C>A	p.His119Asn	p.H119N	ENST00000354376	NM_152571.2	119	Cac/Aac	0	1	1	UPI000006EC86	0	NA	ENST00000354376		ENSG00000196366	26718		33	0		HGNC	p.H119N		C9orf163		SNV							ENST00000354376	protein_coding	getma.org/?cm=var&var=hg19,9,139379255,C,A&fts=all				H/N		A	neutral	1309/2572		getma.org/?cm=msa&ty=f&p=CI163_HUMAN&rb=1&re=200&var=H119N	deleterious_low_confidence(0)				YES	C9orf163,missense_variant,p.His119Asn,ENST00000354376,NM_152571.2;							MODERATE	355/612	H119N	CI163_HUMAN			Transcript		benign(0.216)	.	ENSP00000346345		CCDS7001.1			1	
TDRD5	0	LGGM	GRCh37	1	179604808	179604808	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	36	3	.	.	ENST00000444136.1:c.1306G>C	p.Glu436Gln	p.E436Q	ENST00000444136	NM_001199089.1	436	Gaa/Caa	0	1		UPI00001C0E0A	0	NA	ENST00000294848		ENSG00000162782	20614		39	1.78		HGNC	p.E436Q		TDRD5		SNV							ENST00000367614	protein_coding	getma.org/?cm=var&var=hg19,1,179604808,G,C&fts=all		hmmpanther:PTHR22948		E/Q		C	low	1556/3525		getma.org/?cm=msa&ty=f&p=TDRD5_HUMAN&rb=366&re=467&var=E436Q	tolerated(0.22)					TDRD5,missense_variant,p.Glu436Gln,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,missense_variant,p.Glu436Gln,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Glu436Gln,ENST00000294848,NM_173533.3,NM_001199092.1;TDRD5,upstream_gene_variant,,ENST00000417329,;							MODERATE	1306/2946	E436Q	TDRD5_HUMAN			Transcript		benign(0.322)	.	ENSP00000294848		CCDS1332.1			1	
SCUBE3	0	LGGM	GRCh37	6	35210936	35210936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	46	3	.	.	ENST00000274938.7:c.1832C>A	p.Pro611Gln	p.P611Q	ENST00000274938	NM_152753.2	611	cCg/cAg	0	1	1	UPI0000074423	0	NA	ENST00000274938		ENSG00000146197	13655		49	1.67		HGNC	p.P627Q		SCUBE3		SNV							ENST00000394681	protein_coding	getma.org/?cm=var&var=hg19,6,35210936,C,A&fts=all		hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2		P/Q		A	low	1832/7356		getma.org/?cm=msa&ty=f&p=SCUB3_HUMAN&rb=605&re=641&var=P611Q	tolerated(0.1)	Q7Z3I8_HUMAN			YES	SCUBE3,missense_variant,p.Pro611Gln,ENST00000274938,NM_152753.2;SCUBE3,missense_variant,p.Pro627Gln,ENST00000394681,;							MODERATE	1832/2982	P611Q	SCUB3_HUMAN			Transcript		benign(0.017)	.	ENSP00000274938		CCDS4800.1			1	
HFM1	0	LGGM	GRCh37	1	91739321	91739321	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	37	3	.	.	ENST00000370425.3:c.3720G>T	p.Gln1240His	p.Q1240H	ENST00000370425	NM_001017975.3	1240	caG/caT	0	1	1	UPI0000F51F79	0	NA	ENST00000370425		ENSG00000162669	20193		40	1.935		HGNC	p.Q919H		HFM1		SNV							ENST00000370424	protein_coding	getma.org/?cm=var&var=hg19,1,91739321,C,A&fts=all		hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47		Q/H		A	medium	3819/4931		getma.org/?cm=msa&ty=f&p=HFM1_HUMAN&rb=1093&re=1292&var=Q1240H	tolerated_low_confidence(0.13)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN			YES	HFM1,missense_variant,p.Gln1240His,ENST00000370425,NM_001017975.3;HFM1,missense_variant,p.Gln472His,ENST00000294696,;HFM1,missense_variant,p.Gln919His,ENST00000370424,;HFM1,missense_variant,p.Gln452His,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;							MODERATE	3720/4308	Q1240H	HFM1_HUMAN			Transcript		benign(0.003)	.	ENSP00000359454		CCDS30769.2			1	
BMP7	0	LGGM	GRCh37	20	55777602	55777602	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	11	3	.	.	ENST00000395863.3:c.689C>A	p.Ala230Asp	p.A230D	ENST00000395863	NM_001719.2	230	gCc/gAc	0	1	1	UPI00000349AD	0	NA	ENST00000395863		ENSG00000101144	1074		14	2.41		HGNC	p.A230D		BMP7		SNV							ENST00000395864	protein_coding	getma.org/?cm=var&var=hg19,20,55777602,G,T&fts=all		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00688		A/D		T	medium	1195/4013		getma.org/?cm=msa&ty=f&p=BMP7_HUMAN&rb=22&re=280&var=A230D	deleterious(0)	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN			YES	BMP7,missense_variant,p.Ala230Asp,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Ala230Asp,ENST00000450594,;BMP7,missense_variant,p.Ala230Asp,ENST00000395864,;BMP7,missense_variant,p.Ala152Asp,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000530870,;BMP7,non_coding_transcript_exon_variant,,ENST00000524700,;							MODERATE	689/1296	A230D	BMP7_HUMAN			Transcript		benign(0.209)	.	ENSP00000379204		CCDS13455.1			1	
AC005609.1	0	LGGM	GRCh37	5	140242951	140242951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	42	3	.	.	ENST00000502505.1:c.25G>T	p.Ala9Ser	p.A9S	ENST00000502505		9	Gcc/Tcc	0	1	1	UPI0000073A41	0		ENST00000502505		ENSG00000249034			45			Clone_based_ensembl_gene	p.A9S		AC005609.1		SNV							ENST00000502505	protein_coding					A/S		A		274/2884			tolerated_low_confidence(0.05)	Q8NB83_HUMAN			YES	AC005609.1,missense_variant,p.Ala9Ser,ENST00000502505,;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;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,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000562220,;PCDHA14,non_coding_transcript_exon_variant,,ENST00000506751,;							MODERATE	25/579					Transcript		possibly_damaging(0.709)	.	ENSP00000424817					1	
CNTRL	0	LGGM	GRCh37	9	123898133	123898133	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	47	3	.	.	ENST00000373855.1:c.2075C>A	p.Ala692Glu	p.A692E	ENST00000373855		692	gCa/gAa	0	1		UPI0000211718	0	NA	ENST00000238341		ENSG00000119397	1858		50	0.145		HGNC	p.A140E		CNTRL		SNV							ENST00000373850	protein_coding	getma.org/?cm=var&var=hg19,9,123898133,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1		A/E		A	neutral	2106/7431		getma.org/?cm=msa&ty=f&p=CNTRL_HUMAN&rb=601&re=800&var=A692E		Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN				CNTRL,missense_variant,p.Ala692Glu,ENST00000373855,;CNTRL,missense_variant,p.Ala692Glu,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Ala140Glu,ENST00000373850,;CNTRL,missense_variant,p.Ala140Glu,ENST00000373847,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;							MODERATE	2075/6978	A692E	CNTRL_HUMAN			Transcript		benign(0.001)	.	ENSP00000238341		CCDS35118.1			1	
ARAP2	0	LGGM	GRCh37	4	36162204	36162204	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	24	3	.	.	ENST00000303965.4:c.2319G>T	p.Lys773Asn	p.K773N	ENST00000303965	NM_015230.3	773	aaG/aaT	0	1	1	UPI000013E917	0	getma.org/pdb.php?prot=ARAP2_HUMAN&from=685&to=803&var=K773N	ENST00000303965		ENSG00000047365	16924		27	0.315		HGNC	p.K773N		ARAP2		SNV							ENST00000303965	protein_coding	getma.org/?cm=var&var=hg19,4,36162204,C,A&fts=all		PROSITE_profiles:PS50115,hmmpanther:PTHR23180:SF228,hmmpanther:PTHR23180,Pfam_domain:PF01412,SMART_domains:SM00105,Superfamily_domains:SSF57863		K/N		A	neutral	2809/7514		getma.org/?cm=msa&ty=f&p=ARAP2_HUMAN&rb=685&re=803&var=K773N	tolerated(0.08)	D6RAD6_HUMAN			YES	ARAP2,missense_variant,p.Lys773Asn,ENST00000303965,NM_015230.3;ARAP2,upstream_gene_variant,,ENST00000503904,;ARAP2,non_coding_transcript_exon_variant,,ENST00000508066,;ARAP2,upstream_gene_variant,,ENST00000512804,;							MODERATE	2319/5115	K773N	ARAP2_HUMAN			Transcript		benign(0.18)	.	ENSP00000302895		CCDS3441.1			1	
PCSK5	0	LGGM	GRCh37	9	78794526	78794526	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	29	3	.	.	ENST00000545128.1:c.1915G>T	p.Glu639Ter	p.E639*	ENST00000545128	NM_001190482.1	639	Gag/Tag	0	1	1	UPI0001DAD817	0	NA	ENST00000545128		ENSG00000099139	8747		32	0		HGNC	p.E639X		PCSK5		SNV							ENST00000376752	protein_coding	getma.org/?cm=var&var=hg19,9,78794526,G,T&fts=all		Gene3D:2.10.220.10,Pfam_domain:PF14843,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00261,Superfamily_domains:SSF57184		E/*		T	NA	2453/9538		NA		I0EZ71_HUMAN			YES	PCSK5,stop_gained,p.Glu639Ter,ENST00000545128,NM_001190482.1;PCSK5,stop_gained,p.Glu639Ter,ENST00000376752,NM_006200.3;PCSK5,stop_gained,p.Glu312Ter,ENST00000424854,;PCSK5,downstream_gene_variant,,ENST00000376767,;							HIGH	1915/5583	E639*	PCSK5_HUMAN			Transcript			.	ENSP00000446280		CCDS55320.1			1	
ATP6V0A4	0	LGGM	GRCh37	7	138444614	138444614	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	41	3	.	.	ENST00000310018.2:c.522C>A	p.Ala174=	p.A174=	ENST00000310018	NM_020632.2	174	gcC/gcA	0	1	1	UPI000013CDFD	0		ENST00000310018		ENSG00000105929	866		44			HGNC	p.A174A		ATP6V0A4		SNV			1				ENST00000310018	protein_coding			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26		A		T		805/3135							YES	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,downstream_gene_variant,,ENST00000483139,;ATP6V0A4,upstream_gene_variant,,ENST00000478480,;							LOW	522/2523		VPP4_HUMAN			Transcript			.	ENSP00000308122		CCDS5849.1			1	
SEC24B	0	LGGM	GRCh37	4	110394297	110394297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	44	3	.	.	ENST00000265175.5:c.1015C>A	p.Pro339Thr	p.P339T	ENST00000265175	NM_006323.2	339	Cct/Act	0	1	1	UPI00004F6ED7	0	NA	ENST00000265175		ENSG00000138802	10704		47	0.695		HGNC	p.P370T		SEC24B		SNV							ENST00000504968	protein_coding	getma.org/?cm=var&var=hg19,4,110394297,C,A&fts=all		hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF7		P/T		A	neutral	1070/5083		getma.org/?cm=msa&ty=f&p=SC24B_HUMAN&rb=201&re=400&var=P339T	deleterious_low_confidence(0.01)	B4E2E1_HUMAN			YES	SEC24B,missense_variant,p.Pro339Thr,ENST00000265175,NM_006323.2;SEC24B,missense_variant,p.Pro370Thr,ENST00000504968,;SEC24B,missense_variant,p.Pro339Thr,ENST00000399100,NM_001042734.1;							MODERATE	1015/3807	P339T	SC24B_HUMAN			Transcript		benign(0.11)	.	ENSP00000265175		CCDS47124.1			1	
FAT4	0	LGGM	GRCh37	4	126371611	126371611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	46	3	.	.	ENST00000394329.3:c.9440C>A	p.Thr3147Lys	p.T3147K	ENST00000394329	NM_024582.4	3147	aCa/aAa	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=3094&to=3185&var=T3147K	ENST00000394329		ENSG00000196159	23109		49	1.265		HGNC	p.T3147K		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126371611,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		T/K		A	low	9453/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=3094&re=3185&var=T3147K		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Thr3147Lys,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Thr1445Lys,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;							MODERATE	9440/14946	T3147K	FAT4_HUMAN			Transcript		benign(0.297)	.	ENSP00000377862		CCDS3732.3			1	
NEDD1	0	LGGM	GRCh37	12	97330448	97330448	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	42	3	.	.	ENST00000557644.1:c.800G>T	p.Gly267Val	p.G267V	ENST00000557644	NM_001135175.1	267	gGa/gTa	0	1		UPI000004F17B	0	getma.org/pdb.php?prot=NEDD1_HUMAN&from=148&to=321&var=G260V	ENST00000266742		ENSG00000139350	7723		45	3.81		HGNC	p.G260V		NEDD1		SNV							ENST00000429527	protein_coding	getma.org/?cm=var&var=hg19,12,97330448,G,T&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/V		T	high	1118/3620		getma.org/?cm=msa&ty=f&p=NEDD1_HUMAN&rb=148&re=321&var=G260V	deleterious(0)	G3V4L2_HUMAN,G3V4I9_HUMAN,G3V2M9_HUMAN				NEDD1,missense_variant,p.Gly260Val,ENST00000266742,NM_152905.3;NEDD1,missense_variant,p.Gly260Val,ENST00000429527,NM_001135176.1;NEDD1,missense_variant,p.Gly171Val,ENST00000457368,;NEDD1,missense_variant,p.Gly171Val,ENST00000411739,NM_001135177.1;NEDD1,missense_variant,p.Gly267Val,ENST00000557644,NM_001135175.1;NEDD1,downstream_gene_variant,,ENST00000557478,;NEDD1,downstream_gene_variant,,ENST00000553609,;NEDD1,non_coding_transcript_exon_variant,,ENST00000557454,;NEDD1,downstream_gene_variant,,ENST00000555114,;NEDD1,3_prime_UTR_variant,,ENST00000555806,;							MODERATE	779/1983	G260V	NEDD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000266742		CCDS9063.1			1	
OR51F1	0	LGGM	GRCh37	11	4790927	4790927	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	32	3	.	.	ENST00000343430.3:c.221G>A	p.Gly74Asp	p.G74D	ENST00000343430	NM_001004752.1	74	gGc/gAc	0	1		UPI000066D8E8	0	getma.org/pdb.php?prot=O51F1_HUMAN&from=1&to=148&var=G81D	ENST00000380383		ENSG00000188069	15196		35	3.535		HGNC	p.G81D		OR51F1		SNV							ENST00000380383	protein_coding	getma.org/?cm=var&var=hg19,11,4790927,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/D		T	high	242/960		getma.org/?cm=msa&ty=f&p=O51F1_HUMAN&rb=1&re=148&var=G81D	deleterious(0)	A6NLW9_HUMAN				OR51F1,missense_variant,p.Gly81Asp,ENST00000380383,;OR51F1,missense_variant,p.Gly74Asp,ENST00000343430,NM_001004752.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	242/960	G81D	O51F1_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000369744					1	
POLR1A	0	LGGM	GRCh37	2	86292536	86292536	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	31	3	.	.	ENST00000263857.6:c.1919G>T	p.Ser640Ile	p.S640I	ENST00000263857		640	aGc/aTc	0	1	1	UPI0000D7DB86	0	getma.org/pdb.php?prot=RPA1_HUMAN&from=617&to=802&var=S640I	ENST00000263857		ENSG00000068654	17264		34	-0.16		HGNC	p.S640I		POLR1A		SNV			1				ENST00000263857	protein_coding	getma.org/?cm=var&var=hg19,2,86292536,C,A&fts=all		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04983,SMART_domains:SM00663,Superfamily_domains:SSF64484		S/I		A	neutral	2298/12749		getma.org/?cm=msa&ty=f&p=RPA1_HUMAN&rb=617&re=802&var=S640I	tolerated(0.21)	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN			YES	POLR1A,missense_variant,p.Ser640Ile,ENST00000263857,;POLR1A,missense_variant,p.Ser640Ile,ENST00000409681,NM_015425.3;POLR1A,non_coding_transcript_exon_variant,,ENST00000483538,;							MODERATE	1919/5163	S640I	RPA1_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000263857		CCDS42706.1			1	
TCF25	0	LGGM	GRCh37	16	89952294	89952294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	30	3	.	.	ENST00000263346.8:c.468G>T	p.Arg156Ser	p.R156S	ENST00000263346	NM_014972.2	156	agG/agT	0	1	1	UPI000012A80B	0	NA	ENST00000263346		ENSG00000141002	29181		33	1.15		HGNC	p.R156S	rs751012269	TCF25		SNV							ENST00000561958	protein_coding	getma.org/?cm=var&var=hg19,16,89952294,G,T&fts=all		hmmpanther:PTHR22684,hmmpanther:PTHR22684:SF0		R/S		T	low	524/2233	0.00015	getma.org/?cm=msa&ty=f&p=TCF25_HUMAN&rb=36&re=235&var=R156S	tolerated(0.2)				YES	TCF25,missense_variant,p.Arg156Ser,ENST00000263346,NM_014972.2;TCF25,missense_variant,p.Arg18Ser,ENST00000562256,;TCF25,missense_variant,p.Arg156Ser,ENST00000568412,;TCF25,missense_variant,p.Arg156Ser,ENST00000561958,;TCF25,missense_variant,p.Arg156Ser,ENST00000565196,;TCF25,missense_variant,p.Arg78Ser,ENST00000565404,;TCF25,5_prime_UTR_variant,,ENST00000263347,;TCF25,upstream_gene_variant,,ENST00000568409,;TCF25,non_coding_transcript_exon_variant,,ENST00000566751,;TCF25,downstream_gene_variant,,ENST00000563406,;TCF25,3_prime_UTR_variant,,ENST00000564652,;TCF25,downstream_gene_variant,,ENST00000561585,;							MODERATE	468/2031	R156S	TCF25_HUMAN			Transcript		benign(0.01)	.	ENSP00000263346	8.24E-05	CCDS10987.1			1	
HAPLN4	0	LGGM	GRCh37	19	19372327	19372327	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	6	3	.	.	ENST00000291481.7:c.49G>T	p.Ala17Ser	p.A17S	ENST00000291481	NM_023002.2	17	Gcc/Tcc	0	1	1	UPI00000496C7	0	NA	ENST00000291481		ENSG00000187664	31357		9	0.345		HGNC	p.A17S		HAPLN4		SNV							ENST00000291481	protein_coding	getma.org/?cm=var&var=hg19,19,19372327,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF11		A/S		A	neutral	113/3449		getma.org/?cm=msa&ty=f&p=HPLN4_HUMAN&rb=1&re=45&var=A17S	tolerated_low_confidence(0.41)				YES	HAPLN4,missense_variant,p.Ala17Ser,ENST00000291481,NM_023002.2;TM6SF2,downstream_gene_variant,,ENST00000389363,NM_001001524.2;AC138430.4,non_coding_transcript_exon_variant,,ENST00000586064,;HAPLN4,non_coding_transcript_exon_variant,,ENST00000592862,;TM6SF2,downstream_gene_variant,,ENST00000431465,;TM6SF2,downstream_gene_variant,,ENST00000591001,;TM6SF2,downstream_gene_variant,,ENST00000590431,;							MODERATE	49/1209	A17S	HPLN4_HUMAN			Transcript		unknown(0)	.	ENSP00000291481		CCDS12398.1			1	
PPP5D1P	0	LGGM	GRCh37	19	47030253	47030253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	6	3	.	.	ENST00000414155.1:c.164C>A	p.Ala55Asp	p.A55D	ENST00000414155		55	gCc/gAc	0	1	1	UPI00001D817D	0	getma.org/pdb.php?prot=E7EU14_HUMAN&from=40&to=124&var=A55D	ENST00000414155		ENSG00000230510	44209		9	2.03		HGNC	p.A55D		PPP5D1		SNV							ENST00000414155	protein_coding	getma.org/?cm=var&var=hg19,19,47030253,G,T&fts=all		Pfam_domain:PF08321		A/D		T	medium	395/1882		getma.org/?cm=msa&ty=f&p=E7EU14_HUMAN&rb=40&re=124&var=A55D	deleterious(0.04)				YES	PPP5D1,missense_variant,p.Ala55Asp,ENST00000414155,;PPP5D1,missense_variant,p.Ala43Asp,ENST00000602017,NM_001205281.1;PPP5D1,non_coding_transcript_exon_variant,,ENST00000593359,;							MODERATE	164/516	A55D	PP5D1_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000392262					1	
ERCC5	0	LGGM	GRCh37	13	103518061	103518061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	42	3	.	.	ENST00000355739.4:c.1999C>A	p.Gln667Lys	p.Q667K	ENST00000355739	NM_000123.3	667	Caa/Aaa	0	1	1	UPI000006D0C3	0	NA	ENST00000355739		ENSG00000134899	3437		45	1.905		HGNC	p.Q667K		ERCC5		SNV			1				ENST00000355739	protein_coding	getma.org/?cm=var&var=hg19,13,103518061,C,A&fts=all		hmmpanther:PTHR16171,TIGRFAM_domain:TIGR00600		Q/K		A	medium	3422/5076		getma.org/?cm=msa&ty=f&p=ERCC5_HUMAN&rb=253&re=754&var=Q667K	tolerated(0.13)				YES	ERCC5,missense_variant,p.Gln667Lys,ENST00000355739,NM_000123.3;BIVM-ERCC5,missense_variant,p.Gln1093Lys,ENST00000602836,NM_001204425.1;ERCC5,5_prime_UTR_variant,,ENST00000375954,;ERCC5,upstream_gene_variant,,ENST00000481099,;							MODERATE	1999/3561	Q667K	ERCC5_HUMAN			Transcript		benign(0.114)	.	ENSP00000347978		CCDS32004.1			1	
NLGN1	0	LGGM	GRCh37	3	173997396	173997396	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	40	3	.	.	ENST00000457714.1:c.1605G>T	p.Leu535=	p.L535=	ENST00000457714	NM_014932.3	535	ctG/ctT	0	1	1	UPI0000072F54	0		ENST00000457714		ENSG00000169760	14291		43			HGNC	p.L535L		NLGN1		SNV							ENST00000361589	protein_coding			Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52		L		T		2034/8242							YES	NLGN1,synonymous_variant,p.=,ENST00000457714,NM_014932.3;NLGN1,synonymous_variant,p.=,ENST00000361589,;NLGN1,synonymous_variant,p.=,ENST00000545397,;NLGN1,synonymous_variant,p.=,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;							LOW	1605/2472		NLGN1_HUMAN			Transcript			.	ENSP00000392500		CCDS3222.1			1	
ZNF827	0	LGGM	GRCh37	4	146806866	146806866	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	43	3	.	.	ENST00000379448.4:c.1711G>T	p.Val571Phe	p.V571F	ENST00000379448	NM_178835.3	571	Gtt/Ttt	0	1		UPI0000DA58F8	0	NA	ENST00000508784		ENSG00000151612	27193		46	1.67		HGNC	p.V571F		ZNF827		SNV							ENST00000379448	protein_coding	getma.org/?cm=var&var=hg19,4,146806866,C,A&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4		V/F		A	low	1939/7463		getma.org/?cm=msa&ty=f&p=ZN827_HUMAN&rb=545&re=744&var=V571F	deleterious(0)					ZNF827,missense_variant,p.Val571Phe,ENST00000508784,;ZNF827,missense_variant,p.Val571Phe,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Val221Phe,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000513840,;ZNF827,intron_variant,,ENST00000508995,;							MODERATE	1711/3246	V571F	ZN827_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000421863					1	
FAM160A2	0	LGGM	GRCh37	11	6245208	6245208	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	12	3	.	.	ENST00000265978.4:c.409C>T	p.Leu137=	p.L137=	ENST00000265978	NM_032127.3	137	Cta/Tta	0	1		UPI000006E6DD	0		ENST00000449352		ENSG00000051009	25378		15			HGNC	p.L137L		FAM160A2		SNV							ENST00000449352	protein_coding			hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF4,Pfam_domain:PF10257		L		A		673/3354								FAM160A2,synonymous_variant,p.=,ENST00000265978,NM_032127.3,NM_001098794.1;FAM160A2,synonymous_variant,p.=,ENST00000449352,;FAM160A2,synonymous_variant,p.=,ENST00000524416,;							LOW	409/2919		F16A2_HUMAN			Transcript			.	ENSP00000416918		CCDS44530.1			1	
HTR5A	0	LGGM	GRCh37	7	154862750	154862750	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	26	3	.	.	ENST00000287907.2:c.141G>T	p.Leu47=	p.L47=	ENST00000287907	NM_024012.3	47	ctG/ctT	0	1	1	UPI000004477E	0		ENST00000287907		ENSG00000157219	5300		29			HGNC	p.P88P		HTR5A		SNV							ENST00000543018	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		T		717/2912				Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN			YES	HTR5A,synonymous_variant,p.=,ENST00000287907,NM_024012.3;HTR5A-AS1,synonymous_variant,p.=,ENST00000395731,;HTR5A-AS1,synonymous_variant,p.=,ENST00000543018,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;							LOW	141/1074		5HT5A_HUMAN			Transcript			.	ENSP00000287907		CCDS5936.1			1	
TCF19	0	LGGM	GRCh37	6	31129624	31129624	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	17	3	.	.	ENST00000376257.3:c.639C>A	p.Thr213=	p.T213=	ENST00000376257	NM_007109.2	213	acC/acA	0	1		UPI0000071646	0		ENST00000376255		ENSG00000137310	11629		20			HGNC	p.T213T		TCF19		SNV							ENST00000376255	protein_coding			hmmpanther:PTHR15464,hmmpanther:PTHR15464:SF1		T		A		1142/3039								TCF19,synonymous_variant,p.=,ENST00000376257,NM_007109.2;TCF19,synonymous_variant,p.=,ENST00000376255,NM_001077511.1;TCF19,synonymous_variant,p.=,ENST00000542218,;CCHCR1,upstream_gene_variant,,ENST00000396268,NM_001105563.1,NM_001105564.1;CCHCR1,upstream_gene_variant,,ENST00000376266,NM_019052.3;CCHCR1,upstream_gene_variant,,ENST00000451521,;CCHCR1,upstream_gene_variant,,ENST00000396263,;POU5F1,downstream_gene_variant,,ENST00000513407,NM_001285986.1;POU5F1,downstream_gene_variant,,ENST00000471529,NM_203289.4,NM_001285987.1;POU5F1,downstream_gene_variant,,ENST00000259915,NM_002701.4;POU5F1,downstream_gene_variant,,ENST00000512818,NM_001173531.1;POU5F1,downstream_gene_variant,,ENST00000606567,;POU5F1,downstream_gene_variant,,ENST00000441888,;CCHCR1,upstream_gene_variant,,ENST00000506831,;CCHCR1,upstream_gene_variant,,ENST00000426967,;CCHCR1,upstream_gene_variant,,ENST00000448162,;CCHCR1,upstream_gene_variant,,ENST00000455279,;CCHCR1,upstream_gene_variant,,ENST00000448141,;CCHCR1,upstream_gene_variant,,ENST00000502557,;CCHCR1,upstream_gene_variant,,ENST00000507829,;CCHCR1,upstream_gene_variant,,ENST00000507751,;CCHCR1,upstream_gene_variant,,ENST00000503420,;CCHCR1,upstream_gene_variant,,ENST00000508683,;CCHCR1,upstream_gene_variant,,ENST00000503934,;CCHCR1,upstream_gene_variant,,ENST00000507226,;CCHCR1,upstream_gene_variant,,ENST00000513222,;CCHCR1,upstream_gene_variant,,ENST00000507892,;CCHCR1,upstream_gene_variant,,ENST00000428174,;TCF19,non_coding_transcript_exon_variant,,ENST00000496421,;CCHCR1,upstream_gene_variant,,ENST00000480060,;CCHCR1,upstream_gene_variant,,ENST00000509552,;POU5F1,downstream_gene_variant,,ENST00000461401,;CCHCR1,upstream_gene_variant,,ENST00000475684,;CCHCR1,upstream_gene_variant,,ENST00000488920,;CCHCR1,upstream_gene_variant,,ENST00000508852,;CCHCR1,upstream_gene_variant,,ENST00000507459,;CCHCR1,upstream_gene_variant,,ENST00000512418,;CCHCR1,upstream_gene_variant,,ENST00000505392,;							LOW	639/1038		TCF19_HUMAN			Transcript			.	ENSP00000365431		CCDS43446.1			1	
HTR1A	0	LGGM	GRCh37	5	63257017	63257017	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	47	4	.	.	ENST00000323865.3:c.530C>G	p.Thr177Ser	p.T177S	ENST00000323865	NM_000524.3	177	aCc/aGc	0	1	1	UPI0000124F1A	0	getma.org/pdb.php?prot=5HT1A_HUMAN&from=53&to=400&var=T177S	ENST00000323865		ENSG00000178394	5286		51	-0.09		HGNC	p.T177S		HTR1A		SNV			1				ENST00000323865	protein_coding	getma.org/?cm=var&var=hg19,5,63257017,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00512,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF20,Superfamily_domains:SSF81321		T/S		C	neutral	764/1598		getma.org/?cm=msa&ty=f&p=5HT1A_HUMAN&rb=53&re=400&var=T177S	tolerated(0.37)	Q5ZGX3_HUMAN,D6RA34_HUMAN			YES	HTR1A,missense_variant,p.Thr177Ser,ENST00000323865,NM_000524.3;HTR1A,downstream_gene_variant,,ENST00000506598,;RP11-158J3.2,intron_variant,,ENST00000502882,;							MODERATE	530/1269	T177S	5HT1A_HUMAN			Transcript		benign(0.074)	.	ENSP00000316244		CCDS34168.1			1	
GPR56	0	LGGM	GRCh37	16	57693410	57693410	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	11	4	.	.	ENST00000388812.4:c.1390G>T	p.Glu464Ter	p.E464*	ENST00000388812		464	Gag/Tag	0	1		UPI0000047817	0	NA	ENST00000567835		ENSG00000205336	4512		15	0		HGNC	p.E464X		GPR56		SNV			1				ENST00000568909	protein_coding	getma.org/?cm=var&var=hg19,16,57693410,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF45,hmmpanther:PTHR12011,Pfam_domain:PF00002,Prints_domain:PR00249		E/*		T	NA	1603/3741		NA		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				GPR56,stop_gained,p.Glu458Ter,ENST00000562631,;GPR56,stop_gained,p.Glu464Ter,ENST00000388812,;GPR56,stop_gained,p.Glu458Ter,ENST00000538815,NM_001145772.1,NM_001145771.1,NM_201524.2;GPR56,stop_gained,p.Glu458Ter,ENST00000388813,;GPR56,stop_gained,p.Glu464Ter,ENST00000456916,NM_201525.2,NM_001145773.1;GPR56,stop_gained,p.Glu458Ter,ENST00000562558,;GPR56,stop_gained,p.Glu458Ter,ENST00000568908,NM_005682.5,NM_001145770.1;GPR56,stop_gained,p.Glu458Ter,ENST00000540164,NM_001145774.1;GPR56,stop_gained,p.Glu464Ter,ENST00000567835,;GPR56,stop_gained,p.Glu464Ter,ENST00000568909,;GPR56,stop_gained,p.Glu464Ter,ENST00000379696,;GPR56,stop_gained,p.Glu294Ter,ENST00000379694,;GPR56,stop_gained,p.Glu283Ter,ENST00000544297,;GPR56,intron_variant,,ENST00000565391,;GPR56,3_prime_UTR_variant,,ENST00000564907,;GPR56,3_prime_UTR_variant,,ENST00000565539,;							HIGH	1390/2082	E464*	GPR56_HUMAN			Transcript			.	ENSP00000456794		CCDS32460.1			1	
SCN9A	0	LGGM	GRCh37	2	167151156	167151156	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	59	4	.	.	ENST00000409672.1:c.918G>T	p.Leu306Phe	p.L306F	ENST00000409672	NM_002977.3	306	ttG/ttT	0	1		UPI00015E0A2B	0	NA	ENST00000303354		ENSG00000169432	10597		63	2.41		HGNC	p.L306F		SCN9A		SNV			1				ENST00000409435	protein_coding	getma.org/?cm=var&var=hg19,2,167151156,C,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28		L/F		A	medium	1262/9787		getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=154&re=401&var=L306F	tolerated(0.1)	E9PBA5_HUMAN				SCN9A,missense_variant,p.Leu307Phe,ENST00000303354,;SCN9A,missense_variant,p.Leu307Phe,ENST00000375387,;SCN9A,missense_variant,p.Leu306Phe,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Leu306Phe,ENST00000409435,;SCN9A,missense_variant,p.Leu171Phe,ENST00000452182,;SCN9A,missense_variant,p.Leu171Phe,ENST00000454569,;AC010127.3,non_coding_transcript_exon_variant,,ENST00000447809,;							MODERATE	921/5970	L306F				Transcript		probably_damaging(0.949)	.	ENSP00000304748					1	
ATP8B3	0	LGGM	GRCh37	19	1783107	1783107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	13	4	.	.	ENST00000310127.6:c.3823G>T	p.Gly1275Trp	p.G1275W	ENST00000310127	NM_138813.3	1275	Ggg/Tgg	0	1	1	UPI0000074660	0	NA	ENST00000310127		ENSG00000130270	13535		17	1.67		HGNC	p.G1285W		ATP8B3		SNV							ENST00000539485	protein_coding	getma.org/?cm=var&var=hg19,19,1783107,C,A&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF44		G/W		A	low	4062/5095		getma.org/?cm=msa&ty=f&p=AT8B3_HUMAN&rb=1149&re=1300&var=G1275W	deleterious(0.01)				YES	ATP8B3,missense_variant,p.Gly1285Trp,ENST00000539485,;ATP8B3,missense_variant,p.Gly1275Trp,ENST00000310127,NM_138813.3;ATP8B3,missense_variant,p.Gly1238Trp,ENST00000525591,NM_001178002.2;ONECUT3,downstream_gene_variant,,ENST00000382349,NM_001080488.1;ATP8B3,3_prime_UTR_variant,,ENST00000531925,;ATP8B3,downstream_gene_variant,,ENST00000526847,;							MODERATE	3823/3903	G1275W	AT8B3_HUMAN			Transcript		possibly_damaging(0.784)	.	ENSP00000311336		CCDS45901.1			1	
GOLGA4	0	LGGM	GRCh37	3	37369086	37369086	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	75	4	.	.	ENST00000356847.4:c.5775C>A	p.Asn1925Lys	p.N1925K	ENST00000356847	NM_001172713.1	1925	aaC/aaA	0	1		UPI000012B8DE	0	NA	ENST00000361924		ENSG00000144674	4427		79	0.895		HGNC	p.N1774K		GOLGA4		SNV							ENST00000437131	protein_coding	getma.org/?cm=var&var=hg19,3,37369086,C,A&fts=all		hmmpanther:PTHR19327		N/K		A	low	6083/7772		getma.org/?cm=msa&ty=f&p=GOGA4_HUMAN&rb=1274&re=2100&var=N1903K		A8K3D5_HUMAN				GOLGA4,missense_variant,p.Asn1903Lys,ENST00000361924,NM_002078.4;GOLGA4,missense_variant,p.Asn1925Lys,ENST00000356847,NM_001172713.1;GOLGA4,missense_variant,p.Asn1774Lys,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,upstream_gene_variant,,ENST00000498250,;GOLGA4,downstream_gene_variant,,ENST00000497537,;							MODERATE	5709/6693	N1903K	GOGA4_HUMAN			Transcript		benign(0.044)	.	ENSP00000354486		CCDS2666.1			1	
FRMD5	0	LGGM	GRCh37	15	44175933	44175933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	63	4	.	.	ENST00000417257.1:c.1103G>T	p.Arg368Leu	p.R368L	ENST00000417257	NM_032892.3	368	cGc/cTc	0	1	1	UPI00001A9475	0	NA	ENST00000417257		ENSG00000171877	28214		67	1.845		HGNC	p.R368L		FRMD5		SNV							ENST00000402883	protein_coding	getma.org/?cm=var&var=hg19,15,44175933,C,A&fts=all		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5		R/L		A	low	1280/5011		getma.org/?cm=msa&ty=f&p=FRMD5_HUMAN&rb=325&re=409&var=R368L	tolerated(0.19)	A8K1U8_HUMAN			YES	FRMD5,missense_variant,p.Arg368Leu,ENST00000417257,NM_032892.3;FRMD5,missense_variant,p.Arg368Leu,ENST00000402883,;FRMD5,missense_variant,p.Arg274Leu,ENST00000484674,;FRMD5,missense_variant,p.Arg334Leu,ENST00000449926,;FRMD5,intron_variant,,ENST00000558108,;FRMD5,3_prime_UTR_variant,,ENST00000421674,;FRMD5,3_prime_UTR_variant,,ENST00000458630,;FRMD5,3_prime_UTR_variant,,ENST00000451277,;FRMD5,non_coding_transcript_exon_variant,,ENST00000473965,;							MODERATE	1103/1713	R368L	FRMD5_HUMAN			Transcript		benign(0.012)	.	ENSP00000403067		CCDS10107.2			1	
PEAR1	0	LGGM	GRCh37	1	156875139	156875139	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	6	4	.	.	ENST00000338302.3:c.230G>A	p.Arg77His	p.R77H	ENST00000338302		77	cGt/cAt	0	1		UPI000045889A	0	NA	ENST00000292357		ENSG00000187800	33631		10	1.1		HGNC	p.R77H	rs367928332	PEAR1	0.000314	SNV	A:0						ENST00000338302	protein_coding	getma.org/?cm=var&var=hg19,1,156875139,G,A&fts=all		PROSITE_profiles:PS51041,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF9,Low_complexity_(Seg):seg		R/H	A:0.0001	A	low	346/4866	3.03E-05	getma.org/?cm=msa&ty=f&p=PEAR1_HUMAN&rb=20&re=77&var=R77H	deleterious(0.01)	A6PVP2_HUMAN				PEAR1,missense_variant,p.Arg77His,ENST00000338302,;PEAR1,missense_variant,p.Arg77His,ENST00000292357,NM_001080471.1;PEAR1,missense_variant,p.Arg77His,ENST00000455314,;PEAR1,3_prime_UTR_variant,,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000469390,;PEAR1,upstream_gene_variant,,ENST00000482505,;							MODERATE	230/3114	R77H	PEAR1_HUMAN			Transcript		benign(0.082)	.	ENSP00000292357	5.77E-05	CCDS30892.1			1	
UBN2	0	LGGM	GRCh37	7	138957157	138957157	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	80	4	.	.	ENST00000473989.3:c.1686C>G	p.Cys562Trp	p.C562W	ENST00000473989	NM_173569.3	562	tgC/tgG	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		84	2.42		HGNC	p.C562W		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138957157,C,G&fts=all		Pfam_domain:PF14075,hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		C/W		G	medium	1686/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=448&re=664&var=C562W	deleterious(0)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Cys562Trp,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Cys479Trp,ENST00000288561,;UBN2,missense_variant,p.Cys331Trp,ENST00000483726,;							MODERATE	1686/4044	C562W	UBN2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000418648		CCDS43655.2			1	
AQP3	0	LGGM	GRCh37	9	33443809	33443809	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	4	5	.	.	ENST00000297991.4:c.190G>T	p.Gly64Cys	p.G64C	ENST00000297991	NM_004925.4	64	Ggc/Tgc	0	1	1	UPI0000125D1C	0	getma.org/pdb.php?prot=AQP3_HUMAN&from=16&to=261&var=G64C	ENST00000297991		ENSG00000165272	636		9	3.975		HGNC	p.G64C		AQP3		SNV			1				ENST00000297991	protein_coding	getma.org/?cm=var&var=hg19,9,33443809,C,A&fts=all		Prints_domain:PR00783,Superfamily_domains:SSF81338,TIGRFAM_domain:TIGR00861,Pfam_domain:PF00230,Gene3D:1.20.1080.10,hmmpanther:PTHR19139:SF101,hmmpanther:PTHR19139,Transmembrane_helices:TMhelix		G/C		A	high	271/1849		getma.org/?cm=msa&ty=f&p=AQP3_HUMAN&rb=16&re=261&var=G64C	deleterious(0)				YES	AQP3,missense_variant,p.Gly64Cys,ENST00000297991,NM_004925.4;AQP3,non_coding_transcript_exon_variant,,ENST00000493581,;AQP3,non_coding_transcript_exon_variant,,ENST00000463983,;AQP3,non_coding_transcript_exon_variant,,ENST00000473153,;AQP3,upstream_gene_variant,,ENST00000494313,;							MODERATE	190/879	G64C	AQP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297991		CCDS6542.1			1	
VIL1	0	LGGM	GRCh37	2	219297618	219297618	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	17	5	.	.	ENST00000248444.5:c.1444G>A	p.Gly482Ser	p.G482S	ENST00000248444	NM_007127.2	482	Ggc/Agc	0	1	1	UPI000013CC45	0	getma.org/pdb.php?prot=VILI_HUMAN&from=407&to=489&var=G482S	ENST00000248444		ENSG00000127831	12690		22	3.095		HGNC	p.G482S		VIL1		SNV							ENST00000248444	protein_coding	getma.org/?cm=var&var=hg19,2,219297618,G,A&fts=all		Prints_domain:PR00597,Superfamily_domains:SSF55753,SMART_domains:SM00262,Pfam_domain:PF00626,Gene3D:3.40.20.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35		G/S		A	medium	1532/6531		getma.org/?cm=msa&ty=f&p=VILI_HUMAN&rb=407&re=489&var=G482S	deleterious(0.01)	Q53S11_HUMAN,B4DV78_HUMAN			YES	VIL1,missense_variant,p.Gly482Ser,ENST00000248444,NM_007127.2;VIL1,missense_variant,p.Gly171Ser,ENST00000392114,;VIL1,missense_variant,p.Gly51Ser,ENST00000419986,;VIL1,downstream_gene_variant,,ENST00000440053,;VIL1,downstream_gene_variant,,ENST00000454069,;							MODERATE	1444/2484	G482S	VILI_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000248444		CCDS2417.1			1	
PCDH9	0	LGGM	GRCh37	13	67801392	67801392	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	92	5	.	.	ENST00000544246.1:c.1181A>G	p.Asp394Gly	p.D394G	ENST00000544246	NM_203487.2	394	gAt/gGt	0	1		UPI00001FCE90	0	NA	ENST00000377865		ENSG00000184226	8661		97	-1.65		HGNC	p.D394G		PCDH9		SNV							ENST00000377861	protein_coding	getma.org/?cm=var&var=hg19,13,67801392,T,C&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF25,hmmpanther:PTHR24027,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/G		C	neutral	1316/5667		getma.org/?cm=msa&ty=f&p=PCDH9_HUMAN&rb=370&re=460&var=D394G	tolerated(1)					PCDH9,missense_variant,p.Asp394Gly,ENST00000544246,NM_203487.2;PCDH9,missense_variant,p.Asp394Gly,ENST00000456367,NM_020403.4;PCDH9,missense_variant,p.Asp394Gly,ENST00000377865,;PCDH9,missense_variant,p.Asp394Gly,ENST00000377861,;PCDH9,missense_variant,p.Asp394Gly,ENST00000328454,;							MODERATE	1181/3714	D394G	PCDH9_HUMAN			Transcript		benign(0.364)	.	ENSP00000367096		CCDS9444.1			1	
BCL11A	0	LGGM	GRCh37	2	60687933	60687933	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	24	6	.	.	ENST00000335712.6:c.2114A>T	p.Glu705Val	p.E705V	ENST00000335712	NM_022893.3	705	gAg/gTg	0	1	1	UPI000013DC00	0	NA	ENST00000335712		ENSG00000119866	13221		30	0.55		HGNC	p.E671V		BCL11A		SNV			1				ENST00000538214	protein_coding	getma.org/?cm=var&var=hg19,2,60687933,T,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43		E/V		A	neutral	2342/5942		getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=617&re=755&var=E705V	deleterious(0)	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN			YES	BCL11A,missense_variant,p.Glu705Val,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Glu705Val,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Glu671Val,ENST00000358510,;BCL11A,missense_variant,p.Glu671Val,ENST00000538214,;BCL11A,missense_variant,p.Glu374Val,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,;							MODERATE	2114/2508	E705V	BC11A_HUMAN			Transcript		benign(0.403)	.	ENSP00000338774		CCDS1862.1			1	
PTCHD3	0	LGGM	GRCh37	10	27687456	27687456	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	26	7	.	.	ENST00000438700.3:c.2071A>G	p.Lys691Glu	p.K691E	ENST00000438700	NM_001034842.3	691	Aaa/Gaa	0	1	1	UPI000004E892	0	NA	ENST00000438700		ENSG00000182077	24776		33	0.425		HGNC	p.K691E		PTCHD3		SNV							ENST00000438700	protein_coding	getma.org/?cm=var&var=hg19,10,27687456,T,C&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460		K/E		C	neutral	2189/2529		getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=K691E	tolerated(0.26)	I0CMK0_HUMAN			YES	PTCHD3,missense_variant,p.Lys691Glu,ENST00000438700,NM_001034842.3;							MODERATE	2071/2304	K691E	PTHD3_HUMAN			Transcript		benign(0.02)	.	ENSP00000417658		CCDS31173.1			1	
SLC25A1	0	LGGM	GRCh37	22	19164463	19164463	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	13	7	.	.	ENST00000215882.5:c.527G>T	p.Gly176Val	p.G176V	ENST00000215882	NM_005984.3	176	gGg/gTg	0	1	1	UPI0000137851	0	getma.org/pdb.php?prot=TXTP_HUMAN&from=117&to=213&var=G176V	ENST00000215882		ENSG00000100075	10979		20	4.44		HGNC	p.G176V		SLC25A1		SNV			1				ENST00000215882	protein_coding	getma.org/?cm=var&var=hg19,22,19164463,C,A&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF248,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588,Prints_domain:PR00926		G/V		A	high	684/1641		getma.org/?cm=msa&ty=f&p=TXTP_HUMAN&rb=117&re=213&var=G176V	deleterious(0)	B4DP62_HUMAN			YES	SLC25A1,missense_variant,p.Gly176Val,ENST00000215882,NM_005984.3;SLC25A1,missense_variant,p.Gly73Val,ENST00000451283,NM_001256534.1,NM_001287387.1;CLTCL1,downstream_gene_variant,,ENST00000263200,NM_007098.3;CLTCL1,downstream_gene_variant,,ENST00000427926,;CLTCL1,downstream_gene_variant,,ENST00000353891,NM_001835.3;AC004463.6,downstream_gene_variant,,ENST00000565162,;SLC25A1,splice_region_variant,,ENST00000461267,;CLTCL1,downstream_gene_variant,,ENST00000442042,;CLTCL1,downstream_gene_variant,,ENST00000536806,;SLC25A1,downstream_gene_variant,,ENST00000468824,;SLC25A1,splice_region_variant,,ENST00000470922,;CLTCL1,downstream_gene_variant,,ENST00000413132,;CLTCL1,downstream_gene_variant,,ENST00000505027,;CLTCL1,downstream_gene_variant,,ENST00000412649,;							MODERATE	527/936	G176V	TXTP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000215882		CCDS13758.1			1	
FPR1	0	LGGM	GRCh37	19	52249614	52249614	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	48	7	.	.	ENST00000595042.1:c.634G>A	p.Ala212Thr	p.A212T	ENST00000595042	NM_001193306.1	212	Gca/Aca	0	1		UPI0000050484	0	getma.org/pdb.php?prot=FPR1_HUMAN&from=43&to=301&var=A212T	ENST00000304748		ENSG00000171051	3826		55	0		HGNC	p.A212T	rs765164623	FPR1		SNV							ENST00000304748	protein_coding	getma.org/?cm=var&var=hg19,19,52249614,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00526,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF15,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/T		T	neutral	741/1930	1.50E-05	getma.org/?cm=msa&ty=f&p=FPR1_HUMAN&rb=43&re=301&var=A212T	tolerated(0.41)	M0R315_HUMAN,M0QZT0_HUMAN				FPR1,missense_variant,p.Ala212Thr,ENST00000595042,NM_001193306.1;FPR1,missense_variant,p.Ala212Thr,ENST00000304748,NM_002029.3;FPR1,downstream_gene_variant,,ENST00000600815,;FPR1,downstream_gene_variant,,ENST00000594900,;							MODERATE	634/1053	A212T	FPR1_HUMAN			Transcript		benign(0.002)	.	ENSP00000302707	8.24E-06	CCDS12839.1			1	
PTCHD3	0	LGGM	GRCh37	10	27687684	27687684	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	38	8	.	.	ENST00000438700.3:c.1843A>G	p.Ser615Gly	p.S615G	ENST00000438700	NM_001034842.3	615	Agc/Ggc	0	1	1	UPI000004E892	0	NA	ENST00000438700		ENSG00000182077	24776		46	0.915		HGNC	p.S615G		PTCHD3		SNV							ENST00000438700	protein_coding	getma.org/?cm=var&var=hg19,10,27687684,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460		S/G		C	low	1961/2529		getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=S615G	tolerated(0.41)	I0CMK0_HUMAN			YES	PTCHD3,missense_variant,p.Ser615Gly,ENST00000438700,NM_001034842.3;							MODERATE	1843/2304	S615G	PTHD3_HUMAN			Transcript		benign(0.039)	.	ENSP00000417658		CCDS31173.1			1	
FRAS1	0	LGGM	GRCh37	4	79308753	79308753	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	114	8	.	.	ENST00000264895.6:c.3873T>C	p.Tyr1291=	p.Y1291=	ENST00000264895	NM_025074.6	1291	taT/taC	0	1	1	UPI000021D4C2	0		ENST00000264895		ENSG00000138759	19185		122			HGNC	p.Y1291Y		FRAS1		SNV			1				ENST00000325942	protein_coding			hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878		Y		C		4313/12479				Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,synonymous_variant,p.=,ENST00000264895,NM_025074.6;FRAS1,synonymous_variant,p.=,ENST00000325942,NM_001166133.1;							LOW	3873/12039		FRAS1_HUMAN			Transcript			.	ENSP00000264895		CCDS54771.1			1	
SLC6A3	0	LGGM	GRCh37	5	1441509	1441509	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	16	8	.	.	ENST00000270349.9:c.383C>T	p.Ala128Val	p.A128V	ENST00000270349	NM_001044.4	128	gCc/gTc	0	1	1	UPI000013548F	0	getma.org/pdb.php?prot=SC6A3_HUMAN&from=60&to=583&var=A128V	ENST00000270349		ENSG00000142319	11049		24	2.37		HGNC	p.A54V		SLC6A3		SNV			1				ENST00000513308	protein_coding	getma.org/?cm=var&var=hg19,5,1441509,G,A&fts=all		Superfamily_domains:0053687,Pfam_domain:PF00209,hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616,PROSITE_profiles:PS50267		A/V		A	medium	511/3932		getma.org/?cm=msa&ty=f&p=SC6A3_HUMAN&rb=60&re=583&var=A128V	deleterious(0.03)	Q6LC27_HUMAN,H0YBA7_HUMAN			YES	SLC6A3,missense_variant,p.Ala128Val,ENST00000270349,NM_001044.4;SLC6A3,missense_variant,p.Ala128Val,ENST00000453492,;SLC6A3,missense_variant,p.Ala54Val,ENST00000513308,;							MODERATE	383/1863	A128V	SC6A3_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000270349		CCDS3863.1			1	
NHS	0	LGGM	GRCh37	X	17750103	17750103	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	50	9	.	.	ENST00000380060.3:c.4412C>T	p.Thr1471Ile	p.T1471I	ENST00000380060	NM_198270.2	1471	aCa/aTa	0	1	1	UPI00001DFBF3	0	NA	ENST00000380060		ENSG00000188158	7820	0.000107	59	1.5		HGNC	p.T1471I	rs745448846	NHS		SNV			1				ENST00000380060	protein_coding	getma.org/?cm=var&var=hg19,X,17750103,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039		T/I		T	low	4750/8761	2.08E-05	getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=T1471I	deleterious(0.04)				YES	NHS,missense_variant,p.Thr1471Ile,ENST00000380060,NM_198270.2;NHS,missense_variant,p.Thr1315Ile,ENST00000398097,NM_001136024.2;							MODERATE	4412/4893	T1471I	NHS_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000369400	1.65E-05	CCDS14181.1			1	
SERPINB2	0	LGGM	GRCh37	18	61570275	61570304	+	inframe_deletion	In_Frame_Del	DEL	CATGGAGGACGCCTTCAACAAGGGACGGGC	CATGGAGGACGCCTTCAACAAGGGACGGGC	-	novel	by Submitter	H080503	H080503N.bam	CATGGAGGACGCCTTCAACAAGGGACGGGC	CATGGAGGACGCCTTCAACAAGGGACGGGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	14	9	.	.	ENST00000457692.1:c.986_1015del	p.Met329_Ala338del	p.M329_A338del	ENST00000457692	NM_001143818.1	328	ggCATGGAGGACGCCTTCAACAAGGGACGGGCc/ggc	0	1		UPI000002BB06	0		ENST00000299502		ENSG00000197632	8584		23			HGNC	p.328_338del		SERPINB2		deletion							ENST00000299502	protein_coding			Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF61		GMEDAFNKGRA/G		-		1064-1093/1913				Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN				SERPINB2,inframe_deletion,p.Met329_Ala338del,ENST00000457692,NM_001143818.1;SERPINB2,inframe_deletion,p.Met329_Ala338del,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,;							MODERATE	984-1013/1248		PAI2_HUMAN			Transcript	2		.	ENSP00000299502		CCDS11989.1			1	
PSKH1	0	LGGM	GRCh37	16	67943244	67943244	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	9	10	.	.	ENST00000291041.5:c.592G>A	p.Val198Met	p.V198M	ENST00000291041	NM_006742.2	198	Gtg/Atg	0	1	1	UPI000012DFE0	0	getma.org/pdb.php?prot=KPSH1_HUMAN&from=98&to=355&var=V198M	ENST00000291041		ENSG00000159792	9529		19	1.71		HGNC	p.V198M		PSKH1		SNV							ENST00000291041	protein_coding	getma.org/?cm=var&var=hg19,16,67943244,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF142,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/M		A	low	762/3481		getma.org/?cm=msa&ty=f&p=KPSH1_HUMAN&rb=98&re=355&var=V198M	tolerated(0.07)				YES	PSKH1,missense_variant,p.Val198Met,ENST00000291041,NM_006742.2;PSKH1,non_coding_transcript_exon_variant,,ENST00000570631,;							MODERATE	592/1275	V198M	KPSH1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000291041		CCDS10851.1			1	
KHSRP	0	LGGM	GRCh37	19	6420108	6420108	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	32	10	.	.	ENST00000398148.3:c.523G>T	p.Gly175Cys	p.G175C	ENST00000398148	NM_003685.2	175	Ggc/Tgc	0	1	1	UPI000049DE96	0	getma.org/pdb.php?prot=FUBP2_HUMAN&from=146&to=208&var=G175C	ENST00000398148		ENSG00000088247	6316		42	4.595		HGNC	p.G31C		KHSRP		SNV							ENST00000595548	protein_coding	getma.org/?cm=var&var=hg19,19,6420108,C,A&fts=all		Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF101,SMART_domains:SM00322,Superfamily_domains:SSF54791		G/C		A	high	616/2993		getma.org/?cm=msa&ty=f&p=FUBP2_HUMAN&rb=146&re=208&var=G175C	deleterious(0)	M0QYH3_HUMAN,M0QXW7_HUMAN			YES	KHSRP,missense_variant,p.Gly175Cys,ENST00000398148,NM_003685.2;KHSRP,missense_variant,p.Gly31Cys,ENST00000595548,;KHSRP,missense_variant,p.Gly31Cys,ENST00000595258,;KHSRP,intron_variant,,ENST00000599395,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,upstream_gene_variant,,ENST00000595223,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,upstream_gene_variant,,ENST00000594745,;KHSRP,upstream_gene_variant,,ENST00000597656,;MIR3940,upstream_gene_variant,,ENST00000579148,;KHSRP,non_coding_transcript_exon_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;							MODERATE	523/2136	G175C	FUBP2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000381216		CCDS45936.1			1	
SCN10A	0	LGGM	GRCh37	3	38766755	38766755	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	9	10	.	.	ENST00000449082.2:c.3138G>A	p.Arg1046=	p.R1046=	ENST00000449082	NM_006514.2	1046	agG/agA	0	1	1	UPI0000209BDA	0		ENST00000449082		ENSG00000185313	10582		19			HGNC	p.R1046R	rs371613636	SCN10A	0.000436	SNV			1				ENST00000449082	protein_coding		T:0	Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23		R		T		3138/6418					T:0	T:0	YES	SCN10A,synonymous_variant,p.=,ENST00000449082,NM_006514.2;	0.00104	T:0.0006					LOW	3138/5871		SCNAA_HUMAN		T:0	Transcript			common_variant	ENSP00000390600	0.000132	CCDS33736.1		T:0.0031	1	
CTPS1	0	LGGM	GRCh37	1	41475909	41475909	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	20	11	.	.	ENST00000372621.4:c.1768C>T	p.His590Tyr	p.H590Y	ENST00000372621	NM_001905.2	590	Cat/Tat	0	1		UPI0000132D63	0	NA	ENST00000372616		ENSG00000171793	2519		31	0		HGNC	p.H359Y		CTPS1		SNV			1				ENST00000541520	protein_coding	getma.org/?cm=var&var=hg19,1,41475909,C,T&fts=all				H/Y		T	neutral	1898/2037		getma.org/?cm=msa&ty=f&p=PYRG1_HUMAN&rb=547&re=591&var=H590Y	deleterious_low_confidence(0)	B4E1E0_HUMAN,B4DR64_HUMAN				CTPS1,missense_variant,p.His590Tyr,ENST00000372621,NM_001905.2;CTPS1,missense_variant,p.His590Tyr,ENST00000372616,;CTPS1,missense_variant,p.His359Tyr,ENST00000541520,;CTPS1,non_coding_transcript_exon_variant,,ENST00000498694,;CTPS1,non_coding_transcript_exon_variant,,ENST00000463423,;CTPS1,downstream_gene_variant,,ENST00000464283,;							MODERATE	1768/1776	H590Y	PYRG1_HUMAN			Transcript		benign(0.04)	.	ENSP00000361699		CCDS459.1			1	
PRSS27	0	LGGM	GRCh37	16	2763653	2763653	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	13	11	.	.	ENST00000302641.3:c.555C>A	p.Ile185=	p.I185=	ENST00000302641	NM_031948.3	185	atC/atA	0	1	1	UPI000000D71C	0		ENST00000302641		ENSG00000172382	15475		24			HGNC	p.I185I		PRSS27		SNV							ENST00000302641	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF67,SMART_domains:SM00020,Superfamily_domains:SSF50494		I		T		610/1130							YES	PRSS27,synonymous_variant,p.=,ENST00000302641,NM_031948.3;KCTD5,downstream_gene_variant,,ENST00000301738,NM_018992.3;AC092117.1,downstream_gene_variant,,ENST00000410123,;PRSS27,3_prime_UTR_variant,,ENST00000562249,;PRSS27,3_prime_UTR_variant,,ENST00000565903,;PRSS27,non_coding_transcript_exon_variant,,ENST00000543965,;PRSS27,downstream_gene_variant,,ENST00000566492,;							LOW	555/873		PRS27_HUMAN			Transcript			.	ENSP00000306390		CCDS10476.1			1	
SATB1	0	LGGM	GRCh37	3	18456613	18456613	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	25	11	.	.	ENST00000417717.2:c.629C>G	p.Pro210Arg	p.P210R	ENST00000417717	NM_001195470.1	210	cCc/cGc	0	1		UPI0000000C35	0	getma.org/pdb.php?prot=SATB1_HUMAN&from=201&to=361&var=P210R	ENST00000338745		ENSG00000182568	10541		36	1.735		HGNC	p.P210R		SATB1		SNV							ENST00000440737	protein_coding	getma.org/?cm=var&var=hg19,3,18456613,G,C&fts=all		hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14		P/R		C	low	2364/7810		getma.org/?cm=msa&ty=f&p=SATB1_HUMAN&rb=201&re=361&var=P210R	deleterious(0.02)	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN				SATB1,missense_variant,p.Pro210Arg,ENST00000338745,NM_002971.4;SATB1,missense_variant,p.Pro210Arg,ENST00000417717,NM_001195470.1;SATB1,missense_variant,p.Pro210Arg,ENST00000454909,NM_001131010.2;SATB1,missense_variant,p.Pro210Arg,ENST00000440737,;SATB1,downstream_gene_variant,,ENST00000452260,;SATB1,downstream_gene_variant,,ENST00000493952,;SATB1,downstream_gene_variant,,ENST00000415069,;SATB1,downstream_gene_variant,,ENST00000414509,;SATB1,downstream_gene_variant,,ENST00000457005,;SATB1,non_coding_transcript_exon_variant,,ENST00000475083,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,non_coding_transcript_exon_variant,,ENST00000491519,;SATB1,non_coding_transcript_exon_variant,,ENST00000482788,;							MODERATE	629/2292	P210R	SATB1_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000341024		CCDS2631.1			1	
COL24A1	0	LGGM	GRCh37	1	86591772	86591772	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	39	11	.	.	ENST00000370571.2:c.247A>G	p.Ile83Val	p.I83V	ENST00000370571	NM_152890.5	83	Att/Gtt	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		50	1.15		HGNC	p.I83V	rs779957335	COL24A1		SNV							ENST00000370571	protein_coding	getma.org/?cm=var&var=hg19,1,86591772,T,C&fts=all		SMART_domains:SM00210,Superfamily_domains:SSF49899		I/V		C	low	614/6825	1.51E-05	getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=1&re=113&var=I83V	tolerated(0.27)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Ile83Val,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Ile83Val,ENST00000436319,;COL24A1,downstream_gene_variant,,ENST00000496682,;COL24A1,missense_variant,p.Ile83Val,ENST00000426639,;							MODERATE	247/5145	I83V	COOA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000359603	8.28E-06	CCDS41353.1			1	
OR7G2	0	LGGM	GRCh37	19	9213381	9213381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	23	11	.	.	ENST00000305456.2:c.602A>T	p.Glu201Val	p.E201V	ENST00000305456	NM_001005193.1	201	gAa/gTa	0	1	1	UPI00000472B7	0	NA	ENST00000305456		ENSG00000170923	8466		34	4.36		HGNC	p.E201V		OR7G2		SNV							ENST00000305456	protein_coding	getma.org/?cm=var&var=hg19,19,9213381,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF185,Superfamily_domains:SSF81321		E/V		A	high	602/1038		getma.org/?cm=msa&ty=f&p=OR7G2_HUMAN&rb=139&re=283&var=E180V	deleterious(0)				YES	OR7G2,missense_variant,p.Glu201Val,ENST00000305456,NM_001005193.1;							MODERATE	602/1038	E180V	OR7G2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000303822		CCDS32897.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64526800	64526800	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	16	12	.	.	ENST00000498707.1:c.5492G>A	p.Arg1831Lys	p.R1831K	ENST00000498707	NM_182920.1	1831	aGa/aAa	0	1	1	UPI00000463F0	0	NA	ENST00000498707		ENSG00000163638	13202		28	3.075		HGNC	p.R1803K		ADAMTS9		SNV							ENST00000295903	protein_coding	getma.org/?cm=var&var=hg19,3,64526800,C,T&fts=all		PROSITE_profiles:PS51046,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF08685		R/K		T	medium	5835/7464		getma.org/?cm=msa&ty=f&p=ATS9_HUMAN&rb=1735&re=1935&var=R1831K	deleterious(0)	B4E0E4_HUMAN			YES	ADAMTS9,missense_variant,p.Arg1831Lys,ENST00000498707,NM_182920.1;ADAMTS9,missense_variant,p.Arg1803Lys,ENST00000295903,;ADAMTS9,missense_variant,p.Arg887Lys,ENST00000481060,;							MODERATE	5492/5808	R1831K	ATS9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000418735		CCDS2903.1			1	
C4orf21	0	LGGM	GRCh37	4	113484402	113484402	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	18	12	.	.	ENST00000505019.1:c.4467A>C	p.Leu1489=	p.L1489=	ENST00000505019	NM_018392.4	1489	ctA/ctC	0	1	1	UPI0000EE2F8F	0		ENST00000505019		ENSG00000138658	25654		30			HGNC	p.L387L		C4orf21		SNV							ENST00000445413	protein_coding			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325		L		G		4593/6652				I3L0G6_HUMAN,D6REN9_HUMAN			YES	C4orf21,synonymous_variant,p.=,ENST00000505019,NM_018392.4;C4orf21,synonymous_variant,p.=,ENST00000445413,;C4orf21,3_prime_UTR_variant,,ENST00000473015,;C4orf21,upstream_gene_variant,,ENST00000506675,;RP11-402J6.3,upstream_gene_variant,,ENST00000321285,;							LOW	4467/6315		CD021_HUMAN			Transcript			.	ENSP00000424737		CCDS3700.2			1	
TRABD	0	LGGM	GRCh37	22	50636382	50636382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	16	13	.	.	ENST00000303434.4:c.802C>T	p.Arg268Cys	p.R268C	ENST00000303434	NM_025204.2	268	Cgc/Tgc	0	1	1	UPI0000049DAE	0	NA	ENST00000303434		ENSG00000170638	28805		29	2.34		HGNC	p.R268C		TRABD		SNV							ENST00000395829	protein_coding	getma.org/?cm=var&var=hg19,22,50636382,C,T&fts=all		Pfam_domain:PF01963,hmmpanther:PTHR21530,hmmpanther:PTHR21530:SF0		R/C		T	medium	921/2329		getma.org/?cm=msa&ty=f&p=TRABD_HUMAN&rb=64&re=370&var=R268C	deleterious(0)				YES	TRABD,missense_variant,p.Arg268Cys,ENST00000303434,NM_025204.2;TRABD,missense_variant,p.Arg268Cys,ENST00000380909,;TRABD,missense_variant,p.Arg268Cys,ENST00000395827,;TRABD,missense_variant,p.Arg268Cys,ENST00000395829,;SELO,upstream_gene_variant,,ENST00000380903,NM_031454.1;RP3-402G11.26,downstream_gene_variant,,ENST00000608025,;TRABD,non_coding_transcript_exon_variant,,ENST00000463233,;TRABD,non_coding_transcript_exon_variant,,ENST00000472677,;							MODERATE	802/1131	R268C	TRABD_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000305664		CCDS14086.1			1	
ESRP1	0	LGGM	GRCh37	8	95680196	95680196	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	30	13	.	.	ENST00000433389.2:c.951C>G	p.Ala317=	p.A317=	ENST00000433389	NM_001034915.2	317	gcC/gcG	0	1	1	UPI0000210327	0		ENST00000433389		ENSG00000104413	25966		43			HGNC	p.A317A	rs543455128	ESRP1	0.000263	SNV							ENST00000423620	protein_coding		G:0	hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Superfamily_domains:SSF54928		A		G		1141/3770				E5RI26_HUMAN,E5RGE9_HUMAN	G:0	G:0	YES	ESRP1,synonymous_variant,p.=,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,synonymous_variant,p.=,ENST00000358397,;ESRP1,synonymous_variant,p.=,ENST00000423620,NM_001122826.1;ESRP1,synonymous_variant,p.=,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,synonymous_variant,p.=,ENST00000519505,;ESRP1,synonymous_variant,p.=,ENST00000517610,;ESRP1,downstream_gene_variant,,ENST00000522756,;ESRP1,non_coding_transcript_exon_variant,,ENST00000517556,;		G:0.0004					LOW	951/2046		ESRP1_HUMAN		G:0	Transcript			.	ENSP00000405738	2.48E-05	CCDS47897.1		G:0.002	1	
CA3	0	LGGM	GRCh37	8	86354341	86354341	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	26	14	.	.	ENST00000285381.2:c.272G>A	p.Arg91His	p.R91H	ENST00000285381	NM_005181.3	91	cGc/cAc	0	1	1	UPI0000049C1A	0	getma.org/pdb.php?prot=CAH3_HUMAN&from=5&to=259&var=R91H	ENST00000285381		ENSG00000164879	1374		40	1.405		HGNC	p.R91H		CA3		SNV							ENST00000285381	protein_coding	getma.org/?cm=var&var=hg19,8,86354341,G,A&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF96,hmmpanther:PTHR18952,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		R/H		A	low	355/1753		getma.org/?cm=msa&ty=f&p=CAH3_HUMAN&rb=5&re=259&var=R91H	tolerated(0.14)	E5RHI4_HUMAN			YES	CA3,missense_variant,p.Arg91His,ENST00000285381,NM_005181.3;CA3,missense_variant,p.Arg14His,ENST00000520921,;RP11-317J10.2,non_coding_transcript_exon_variant,,ENST00000521761,;RP11-317J10.2,non_coding_transcript_exon_variant,,ENST00000517697,;CA3,non_coding_transcript_exon_variant,,ENST00000522207,;							MODERATE	272/783	R91H	CAH3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000285381		CCDS6238.1			1	
DMTN	0	LGGM	GRCh37	8	21937935	21937935	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	43	14	.	.	ENST00000523266.1:c.913G>A	p.Glu305Lys	p.E305K	ENST00000523266	NM_001978.2	305	Gag/Aag	0	1		UPI0000129189	0	NA	ENST00000265800		ENSG00000158856	3382		57	1.7		HGNC	p.E305K		DMTN		SNV							ENST00000381470	protein_coding	getma.org/?cm=var&var=hg19,8,21937935,G,A&fts=all		hmmpanther:PTHR24213		E/K		A	low	1185/2554		getma.org/?cm=msa&ty=f&p=DEMA_HUMAN&rb=201&re=369&var=E305K	deleterious(0)	E5RJ61_HUMAN				DMTN,missense_variant,p.Glu305Lys,ENST00000358242,;DMTN,missense_variant,p.Glu305Lys,ENST00000523266,NM_001978.2;DMTN,missense_variant,p.Glu305Lys,ENST00000519907,;DMTN,missense_variant,p.Glu305Lys,ENST00000381470,NM_001114137.1;DMTN,missense_variant,p.Glu305Lys,ENST00000415253,NM_001114138.1;DMTN,missense_variant,p.Glu305Lys,ENST00000265800,NM_001114135.2;DMTN,missense_variant,p.Glu305Lys,ENST00000432128,NM_001114136.1;DMTN,missense_variant,p.Glu280Lys,ENST00000443491,NM_001114139.1;DMTN,missense_variant,p.Glu280Lys,ENST00000523782,;DMTN,missense_variant,p.Glu265Lys,ENST00000517600,;DMTN,missense_variant,p.Glu305Lys,ENST00000517305,;							MODERATE	913/1218	E305K	DEMA_HUMAN			Transcript		benign(0.362)	.	ENSP00000265800		CCDS6020.1			1	
STAB1	0	LGGM	GRCh37	3	52548383	52548383	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	26	14	.	.	ENST00000321725.6:c.3549C>T	p.Asp1183=	p.D1183=	ENST00000321725	NM_015136.2	1183	gaC/gaT	0	1	1	UPI0000140C12	0		ENST00000321725		ENSG00000010327	18628		40			HGNC	p.D1183D	rs373901480	STAB1	0.00022	SNV				9.95E-05			ENST00000321725	protein_coding		T:0	Superfamily_domains:SSF82153,SMART_domains:SM00554,Gene3D:2.30.180.10,Pfam_domain:PF02469,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50213		D		T		3625/7928	1.58E-05				T:0	T:0.001	YES	STAB1,splice_region_variant,p.=,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,upstream_gene_variant,,ENST00000481626,;STAB1,downstream_gene_variant,,ENST00000484850,;	0.00141	T:0.0004					LOW	3549/7713		STAB1_HUMAN	0.000151	T:0	Transcript			common_variant	ENSP00000312946	0.000141	CCDS33768.1		T:0.001	1	
KIAA1462	0	LGGM	GRCh37	10	30316485	30316485	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	26	15	.	.	ENST00000375377.1:c.2592G>A	p.Ala864=	p.A864=	ENST00000375377	NM_020848.2	864	gcG/gcA	0	1	1	UPI00001D8117	0		ENST00000375377		ENSG00000165757	29283		41			HGNC	p.A864A	COSM300310	KIAA1462		SNV						1	ENST00000375377	protein_coding			Pfam_domain:PF15351		A		T		2694/9265							YES	KIAA1462,synonymous_variant,p.=,ENST00000375377,NM_020848.2;					1		LOW	2592/4080		JCAD_HUMAN			Transcript			.	ENSP00000364526		CCDS41500.1			1	
LTBP4	0	LGGM	GRCh37	19	41122918	41122918	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	24	17	.	.	ENST00000308370.7:c.3137G>T	p.Gly1046Val	p.G1046V	ENST00000308370	NM_001042544.1	1046	gGa/gTa	0	1	1	UPI000179A7A0	0	NA	ENST00000308370		ENSG00000090006	6717		41	0.6		HGNC	p.G1009V		LTBP4		SNV			1				ENST00000204005	protein_coding	getma.org/?cm=var&var=hg19,19,41122918,G,T&fts=all		SMART_domains:SM00181,SMART_domains:SM00179,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		G/V		T	neutral	3137/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=1005&re=1047&var=G1046V	tolerated(0.28)				YES	LTBP4,missense_variant,p.Gly1046Val,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Gly1009Val,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Gly979Val,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Gly152Val,ENST00000597071,;LTBP4,missense_variant,p.Gly127Val,ENST00000593463,;LTBP4,intron_variant,,ENST00000545697,;LTBP4,intron_variant,,ENST00000243562,;LTBP4,intron_variant,,ENST00000601032,;LTBP4,intron_variant,,ENST00000599724,;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,,ENST00000597603,;LTBP4,intron_variant,,ENST00000601560,;LTBP4,intron_variant,,ENST00000595183,;LTBP4,downstream_gene_variant,,ENST00000598055,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600499,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601570,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595665,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594448,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601464,;LTBP4,intron_variant,,ENST00000595118,;LTBP4,intron_variant,,ENST00000318809,;LTBP4,intron_variant,,ENST00000594266,;LTBP4,intron_variant,,ENST00000597816,;LTBP4,intron_variant,,ENST00000595767,;LTBP4,intron_variant,,ENST00000594457,;LTBP4,intron_variant,,ENST00000593614,;LTBP4,intron_variant,,ENST00000596351,;LTBP4,downstream_gene_variant,,ENST00000546155,;LTBP4,downstream_gene_variant,,ENST00000598717,;LTBP4,downstream_gene_variant,,ENST00000602251,;							MODERATE	3137/4872	G1046V	LTBP4_HUMAN			Transcript		benign(0.018)	.	ENSP00000311905					1	
SLITRK3	0	LGGM	GRCh37	3	164906193	164906193	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	57	19	.	.	ENST00000475390.1:c.2426G>A	p.Arg809Gln	p.R809Q	ENST00000475390		809	cGg/cAg	0	1		UPI000004F259	0	NA	ENST00000241274		ENSG00000121871	23501		76	0.695		HGNC	p.R809Q		SLITRK3		SNV							ENST00000475390	protein_coding	getma.org/?cm=var&var=hg19,3,164906193,C,T&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14		R/Q		T	neutral	2708/4391		getma.org/?cm=msa&ty=f&p=SLIK3_HUMAN&rb=740&re=939&var=R809Q	tolerated(0.22)	C9K0R4_HUMAN				SLITRK3,missense_variant,p.Arg809Gln,ENST00000475390,;SLITRK3,missense_variant,p.Arg809Gln,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;							MODERATE	2426/2934	R809Q	SLIK3_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000241274		CCDS3197.1			1	
A2ML1	0	LGGM	GRCh37	12	8988194	8988194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	23	19	.	.	ENST00000299698.7:c.575T>A	p.Met192Lys	p.M192K	ENST00000299698	NM_144670.4	192	aTg/aAg	0	1	1	UPI000022904E	0	getma.org/pdb.php?prot=A2ML1_HUMAN&from=121&to=238&var=M192K	ENST00000299698		ENSG00000166535	23336		42	0.935		HGNC	p.M192K		A2ML1		SNV			1				ENST00000299698	protein_coding	getma.org/?cm=var&var=hg19,12,8988194,T,A&fts=all		Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF79		M/K		A	low	755/5274		getma.org/?cm=msa&ty=f&p=A2ML1_HUMAN&rb=121&re=238&var=M192K	tolerated(0.07)	H0YGG5_HUMAN			YES	A2ML1,missense_variant,p.Met192Lys,ENST00000299698,NM_144670.4,NM_001282424.1;A2ML1-AS1,upstream_gene_variant,,ENST00000537288,;A2ML1,downstream_gene_variant,,ENST00000537546,;							MODERATE	575/4365	M192K	A2ML1_HUMAN			Transcript		benign(0.004)	.	ENSP00000299698		CCDS8596.2			1	
OR2V2	0	LGGM	GRCh37	5	180582033	180582033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	82	20	.	.	ENST00000328275.1:c.91G>A	p.Val31Met	p.V31M	ENST00000328275	NM_206880.1	31	Gtg/Atg	0	1	1	UPI0000041C79	0	getma.org/pdb.php?prot=OR2V2_HUMAN&from=1&to=139&var=V31M	ENST00000328275		ENSG00000182613	15341		102	0.91		HGNC	p.V31M	rs370476658	OR2V2		SNV	A:0			9.61E-05			ENST00000328275	protein_coding	getma.org/?cm=var&var=hg19,5,180582033,G,A&fts=all	A:0.0008	Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/M	A:0.0001	A	low	91/948	3.00E-05	getma.org/?cm=msa&ty=f&p=OR2V2_HUMAN&rb=1&re=139&var=V31M	tolerated(0.33)		A:0	A:0	YES	OR2V2,missense_variant,p.Val31Met,ENST00000328275,NM_206880.1;		A:0.0002					MODERATE	91/948	V31M	OR2V2_HUMAN		A:0	Transcript		benign(0.008)	.	ENSP00000332185	2.47E-05	CCDS4461.1		A:0	1	
WDTC1	0	LGGM	GRCh37	1	27622885	27622885	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	19	23	.	.	ENST00000361771.3:c.942C>T	p.Ser314=	p.S314=	ENST00000361771		314	tcC/tcT	0	1		UPI000004814E	0		ENST00000319394		ENSG00000142784	29175		42			HGNC	p.S314S	rs762333067	WDTC1		SNV							ENST00000361771	protein_coding			hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF21		S		T		1477/4805	1.50E-05			H0YEI6_HUMAN				WDTC1,synonymous_variant,p.=,ENST00000319394,NM_015023.4,NM_001276252.1;WDTC1,synonymous_variant,p.=,ENST00000361771,;WDTC1,synonymous_variant,p.=,ENST00000447062,;WDTC1,non_coding_transcript_exon_variant,,ENST00000491239,;							LOW	942/2034		WDTC1_HUMAN			Transcript			.	ENSP00000317971	8.24E-06	CCDS60044.1			1	
KPNA5	0	LGGM	GRCh37	6	117045514	117045514	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	15	24	.	.	ENST00000368564.1:c.975G>T	p.Val325=	p.V325=	ENST00000368564		325	gtG/gtT	0	1		UPI000000DBE6	0		ENST00000356348		ENSG00000196911	6398		39			HGNC	p.V325V		KPNA5		SNV							ENST00000368564	protein_coding			hmmpanther:PTHR23316:SF10,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371		V		T		1106/2157				Q5TD90_HUMAN				KPNA5,synonymous_variant,p.=,ENST00000368564,;KPNA5,synonymous_variant,p.=,ENST00000356348,NM_002269.2;							LOW	975/1620		IMA6_HUMAN			Transcript			.	ENSP00000348704		CCDS5111.1			1	
DUSP22	0	LGGM	GRCh37	6	304646	304646	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080503	H080503N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	229	26	.	.	ENST00000344450.5:c.40A>T	p.Ile14Phe	p.I14F	ENST00000344450	NM_020185.3	14	Atc/Ttc	0	1	1	UPI0000036A3C	0	getma.org/pdb.php?prot=DUS22_HUMAN&from=12&to=141&var=I14F	ENST00000344450		ENSG00000112679	16077		255	1.845		HGNC	p.I14F		DUSP22		SNV							ENST00000344450	protein_coding	getma.org/?cm=var&var=hg19,6,304646,A,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00782,Prints_domain:PR01908,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF29,SMART_domains:SM00195,Superfamily_domains:SSF52799		I/F		T	low	483/1485		getma.org/?cm=msa&ty=f&p=DUS22_HUMAN&rb=12&re=141&var=I14F	deleterious(0.03)	S4R3A4_HUMAN			YES	DUSP22,missense_variant,p.Ile14Phe,ENST00000419235,NM_001286555.1;DUSP22,missense_variant,p.Ile14Phe,ENST00000344450,NM_020185.3;DUSP22,5_prime_UTR_variant,,ENST00000605035,;DUSP22,5_prime_UTR_variant,,ENST00000603453,;DUSP22,5_prime_UTR_variant,,ENST00000603296,;DUSP22,intron_variant,,ENST00000605315,;DUSP22,intron_variant,,ENST00000605863,;DUSP22,intron_variant,,ENST00000603881,;DUSP22,non_coding_transcript_exon_variant,,ENST00000603005,;DUSP22,missense_variant,p.Ile14Phe,ENST00000603795,;DUSP22,missense_variant,p.Ile14Phe,ENST00000603726,;							MODERATE	40/555	I14F	DUS22_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000345281		CCDS4468.1			1	
RGS9	0	LGGM	GRCh37	17	63206628	63206628	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	43	26	.	.	ENST00000262406.9:c.1312C>T	p.Arg438Cys	p.R438C	ENST00000262406	NM_003835.3	438	Cgt/Tgt	0	1	1	UPI000013382A	0	NA	ENST00000262406		ENSG00000108370	10004		69	1.975		HGNC	p.R435C	rs374456012	RGS9		SNV	T:0.0002		1				ENST00000449996	protein_coding	getma.org/?cm=var&var=hg19,17,63206628,C,T&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF20		R/C	T:0	T	medium	1379/2375		getma.org/?cm=msa&ty=f&p=RGS9_HUMAN&rb=417&re=463&var=R438C	deleterious(0)				YES	RGS9,missense_variant,p.Arg435Cys,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Arg438Cys,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Arg435Cys,ENST00000443584,NM_001165933.1;RGS9,missense_variant,p.Ala439Val,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;							MODERATE	1312/2025	R438C	RGS9_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000262406		CCDS42373.1			1	
SLC4A8	0	LGGM	GRCh37	12	51865092	51865092	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	45	27	.	.	ENST00000453097.2:c.1680C>T	p.Leu560=	p.L560=	ENST00000453097	NM_001039960.2	560	ctC/ctT	0	1	1	UPI00005E6FB4	0		ENST00000453097		ENSG00000050438	11034		72			HGNC	p.L507L		SLC4A8		SNV							ENST00000535225	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834		L		T		1897/4395							YES	SLC4A8,synonymous_variant,p.=,ENST00000453097,NM_001039960.2,NM_001258401.2;SLC4A8,synonymous_variant,p.=,ENST00000358657,;SLC4A8,synonymous_variant,p.=,ENST00000514353,NM_001258403.1;SLC4A8,synonymous_variant,p.=,ENST00000394856,;SLC4A8,synonymous_variant,p.=,ENST00000535225,NM_001258402.1,NM_001267615.1;SLC4A8,non_coding_transcript_exon_variant,,ENST00000546663,;SLC4A8,downstream_gene_variant,,ENST00000550211,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;							LOW	1680/3282		S4A8_HUMAN			Transcript			.	ENSP00000405812		CCDS44890.1			1	
PCLO	0	LGGM	GRCh37	7	82582901	82582901	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080503	H080503N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	49	28	.	.	ENST00000333891.9:c.7368T>A	p.Phe2456Leu	p.F2456L	ENST00000333891	NM_033026.5	2456	ttT/ttA	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		77	0		HGNC	p.F2456L		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82582901,A,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		F/L		T	neutral	7706/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=F2387L					YES	PCLO,missense_variant,p.Phe2456Leu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Phe2456Leu,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	7368/15429	F2387L	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125521626	125521626	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	68	29	.	.	ENST00000431078.1:c.2432T>A	p.Phe811Tyr	p.F811Y	ENST00000431078	NM_130773.3	811	tTc/tAc	0	1	1	UPI0000071988	0	getma.org/pdb.php?prot=CNTP5_HUMAN&from=791&to=956&var=F811Y	ENST00000431078		ENSG00000155052	18748		97	1.385		HGNC	p.F811Y		CNTNAP5		SNV							ENST00000431078	protein_coding	getma.org/?cm=var&var=hg19,2,125521626,T,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		F/Y		A	low	2796/5284		getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=791&re=956&var=F811Y	deleterious(0.01)				YES	CNTNAP5,missense_variant,p.Phe811Tyr,ENST00000431078,NM_130773.3;							MODERATE	2432/3921	F811Y	CNTP5_HUMAN			Transcript		benign(0.091)	.	ENSP00000399013		CCDS46401.1			1	
HERC2	0	LGGM	GRCh37	15	28437257	28437257	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	44	31	.	.	ENST00000261609.7:c.8301del	p.Lys2768SerfsTer19	p.K2768Sfs*19	ENST00000261609	NM_004667.5	2767	ctG/ct	0	1	1	UPI00004578F7	0		ENST00000261609		ENSG00000128731	4868		75			HGNC	p.L2767fs		HERC2		deletion			1				ENST00000261609	protein_coding			PROSITE_profiles:PS51284,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Superfamily_domains:SSF49785		L/X		-		8410/15337							YES	HERC2,frameshift_variant,p.Lys2768SerfsTer19,ENST00000261609,NM_004667.5;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,;							HIGH	8301/14505		HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
ZDBF2	0	LGGM	GRCh37	2	207171085	207171085	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	65	38	.	.	ENST00000374423.3:c.1833C>T	p.His611=	p.H611=	ENST00000374423	NM_020923.1	611	caC/caT	0	1	1	UPI000022BDE3	0		ENST00000374423		ENSG00000204186	29313		103			HGNC	p.H611H	rs531465909	ZDBF2	6.06E-05	SNV							ENST00000374423	protein_coding		T:0	hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		H		T		2219/10282				N0DVB2_HUMAN	T:0	T:0	YES	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.1,NM_001285549.1;		T:0.0002					LOW	1833/7065		ZDBF2_HUMAN		T:0	Transcript			.	ENSP00000363545	8.28E-06	CCDS46501.1		T:0.001	1	
OMA1	0	LGGM	GRCh37	1	58999706	58999706	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	47	39	.	.	ENST00000371226.3:c.930A>T	p.Gly310=	p.G310=	ENST00000371226	NM_145243.3	310	ggA/ggT	0	1	1	UPI000006D0C6	0		ENST00000371226		ENSG00000162600	29661		86			HGNC	p.G310G		OMA1		SNV							ENST00000371226	protein_coding			hmmpanther:PTHR22726,hmmpanther:PTHR22726:SF1,Gene3D:3cqbA01,Pfam_domain:PF01435		G		A		1044/1935				S4R3A3_HUMAN			YES	OMA1,synonymous_variant,p.=,ENST00000421528,;OMA1,synonymous_variant,p.=,ENST00000371226,NM_145243.3;OMA1,synonymous_variant,p.=,ENST00000358603,;OMA1,synonymous_variant,p.=,ENST00000456980,;OMA1,downstream_gene_variant,,ENST00000419242,;OMA1,downstream_gene_variant,,ENST00000426139,;OMA1,downstream_gene_variant,,ENST00000453710,;OMA1,downstream_gene_variant,,ENST00000482274,;DAB1,intron_variant,,ENST00000485760,;OMA1,downstream_gene_variant,,ENST00000467063,;OMA1,upstream_gene_variant,,ENST00000476933,;OMA1,upstream_gene_variant,,ENST00000467509,;							LOW	930/1575		OMA1_HUMAN			Transcript			.	ENSP00000360270		CCDS608.1			1	
HELZ	0	LGGM	GRCh37	17	65124914	65124914	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	73	40	.	.	ENST00000358691.5:c.3240C>T	p.Ile1080=	p.I1080=	ENST00000358691	NM_014877.3	1080	atC/atT	0	1	1	UPI000013D7F5	0		ENST00000358691		ENSG00000198265	16878		113			HGNC	p.I1081I		HELZ		SNV							ENST00000580168	protein_coding			hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887		I		A		3407/13810				J3KT20_HUMAN,J3KS59_HUMAN			YES	HELZ,synonymous_variant,p.=,ENST00000358691,NM_014877.3;HELZ,synonymous_variant,p.=,ENST00000580168,;HELZ,synonymous_variant,p.=,ENST00000579953,;							LOW	3240/5829		HELZ_HUMAN			Transcript			.	ENSP00000351524		CCDS42374.1			1	
GPR98	0	LGGM	GRCh37	5	89933682	89933682	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080503	H080503N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	126	42	.	.	ENST00000405460.2:c.2157G>A	p.Gly719=	p.G719=	ENST00000405460	NM_032119.3	719	ggG/ggA	0	1	1	UPI00002127A7	0		ENST00000405460		ENSG00000164199	17416		168			HGNC	p.G719G		GPR98		SNV			1				ENST00000405460	protein_coding			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		G		A		2253/19338							YES	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;GPR98,synonymous_variant,p.=,ENST00000504142,;GPR98,upstream_gene_variant,,ENST00000512205,;							LOW	2157/18921		GPR98_HUMAN			Transcript			.	ENSP00000384582		CCDS47246.1			1	
GPR98	0	LGGM	GRCh37	5	89933683	89933683	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080503	H080503N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	127	44	.	.	ENST00000405460.2:c.2158C>A	p.Gln720Lys	p.Q720K	ENST00000405460	NM_032119.3	720	Caa/Aaa	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		171	2.075		HGNC	p.Q720K		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89933683,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		Q/K		A	medium	2254/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=706&re=745&var=Q720K					YES	GPR98,missense_variant,p.Gln720Lys,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Gln309Lys,ENST00000504142,;GPR98,upstream_gene_variant,,ENST00000512205,;							MODERATE	2158/18921	Q720K	GPR98_HUMAN			Transcript		benign(0.292)	.	ENSP00000384582		CCDS47246.1			1	
PDE4D	0	LGGM	GRCh37	5	58273059	58273059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080503	H080503N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	133	67	.	.	ENST00000340635.6:c.1666A>G	p.Lys556Glu	p.K556E	ENST00000340635	NM_001104631.1	556	Aaa/Gaa	0	1	1	UPI0000050EB1	0	getma.org/pdb.php?prot=PDE4D_HUMAN&from=461&to=705&var=K556E	ENST00000340635		ENSG00000113448	8783		200	1.465		HGNC	p.K420E		PDE4D		SNV			1				ENST00000360047	protein_coding	getma.org/?cm=var&var=hg19,5,58273059,T,C&fts=all		Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF91,Superfamily_domains:SSF109604		K/E		C	low	1842/8232		getma.org/?cm=msa&ty=f&p=PDE4D_HUMAN&rb=461&re=705&var=K556E	deleterious_low_confidence(0)	D6RHE0_HUMAN			YES	PDE4D,missense_variant,p.Lys556Glu,ENST00000340635,NM_001104631.1;PDE4D,missense_variant,p.Lys492Glu,ENST00000507116,NM_001197218.1;PDE4D,missense_variant,p.Lys420Glu,ENST00000360047,NM_006203.4;PDE4D,missense_variant,p.Lys254Glu,ENST00000358923,NM_001197221.1,NM_001197222.1;PDE4D,missense_variant,p.Lys426Glu,ENST00000503258,NM_001197220.1;PDE4D,missense_variant,p.Lys265Glu,ENST00000317118,NM_001197223.1;PDE4D,missense_variant,p.Lys495Glu,ENST00000502484,NM_001165899.1;PDE4D,missense_variant,p.Lys434Glu,ENST00000405755,NM_001197219.1;PDE4D,missense_variant,p.Lys495Glu,ENST00000546160,;PDE4D,missense_variant,p.Lys254Glu,ENST00000505453,;PDE4D,3_prime_UTR_variant,,ENST00000309641,;PDE4D,non_coding_transcript_exon_variant,,ENST00000515011,;							MODERATE	1666/2430	K556E	PDE4D_HUMAN			Transcript		possibly_damaging(0.65)	.	ENSP00000345502		CCDS47213.1			1	
SPATA31A3	0	LGGM	GRCh37	9	40705624	40705624	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080503	H080503N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080503N.bam, H080503T.bam	Illumina HiSeq	105	67	.	.	ENST00000356699.5:c.3281A>C	p.Gln1094Pro	p.Q1094P	ENST00000356699	NM_001083124.1	1094	cAa/cCa	0	1	1	UPI00004588FC	0	NA	ENST00000356699		ENSG00000147926	32003		172	1.935		HGNC	p.Q1094P		SPATA31A3		SNV							ENST00000356699	protein_coding	getma.org/?cm=var&var=hg19,9,40705624,A,C&fts=all		hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859		Q/P		C	medium	3310/4223		getma.org/?cm=msa&ty=f&p=F75A3_HUMAN&rb=1&re=1345&var=Q1094P	deleterious(0)				YES	SPATA31A3,missense_variant,p.Gln1094Pro,ENST00000356699,NM_001083124.1;RP11-395E19.5,non_coding_transcript_exon_variant,,ENST00000432614,;SPATA31A3,downstream_gene_variant,,ENST00000463536,;							MODERATE	3281/4044	Q1094P	S31A3_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000349132		CCDS47969.1			1	
PUSL1	0	LGGM	GRCh37	1	1244862	1244862	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	8	2	.	.	ENST00000379031.5:c.352G>T	p.Asp118Tyr	p.D118Y	ENST00000379031	NM_153339.1	118	Gac/Tac	0	1	1	UPI0000051C19	0	getma.org/pdb.php?prot=PUSL1_HUMAN&from=16&to=124&var=D118Y	ENST00000379031		ENSG00000169972	26914		10	3.145		HGNC	p.D118Y		PUSL1		SNV							ENST00000379031	protein_coding	getma.org/?cm=var&var=hg19,1,1244862,G,T&fts=all		HAMAP:MF_00171,hmmpanther:PTHR11142,Pfam_domain:PF01416,Gene3D:1dj0A02,PIRSF_domain:PIRSF001430,Superfamily_domains:SSF55120		D/Y		T	medium	429/1287		getma.org/?cm=msa&ty=f&p=PUSL1_HUMAN&rb=16&re=124&var=D118Y	deleterious(0.01)	J3KTG4_HUMAN			YES	PUSL1,missense_variant,p.Asp118Tyr,ENST00000379031,NM_153339.1;PUSL1,5_prime_UTR_variant,,ENST00000467712,;ACAP3,upstream_gene_variant,,ENST00000354700,NM_030649.2;ACAP3,upstream_gene_variant,,ENST00000353662,;CPSF3L,downstream_gene_variant,,ENST00000540437,NM_001256456.1;CPSF3L,downstream_gene_variant,,ENST00000435064,NM_017871.5,NM_001256460.1;CPSF3L,downstream_gene_variant,,ENST00000545578,;CPSF3L,downstream_gene_variant,,ENST00000421495,;CPSF3L,downstream_gene_variant,,ENST00000450926,;CPSF3L,downstream_gene_variant,,ENST00000411962,NM_001256462.1;CPSF3L,downstream_gene_variant,,ENST00000419704,NM_001256463.1;CPSF3L,downstream_gene_variant,,ENST00000434694,;PUSL1,non_coding_transcript_exon_variant,,ENST00000470520,;CPSF3L,downstream_gene_variant,,ENST00000462432,;ACAP3,upstream_gene_variant,,ENST00000438966,;ACAP3,non_coding_transcript_exon_variant,,ENST00000472541,;PUSL1,non_coding_transcript_exon_variant,,ENST00000493657,;PUSL1,non_coding_transcript_exon_variant,,ENST00000463758,;ACAP3,upstream_gene_variant,,ENST00000492936,;CPSF3L,downstream_gene_variant,,ENST00000478641,;CPSF3L,downstream_gene_variant,,ENST00000458452,;CPSF3L,downstream_gene_variant,,ENST00000323275,;ACAP3,upstream_gene_variant,,ENST00000478065,;CPSF3L,downstream_gene_variant,,ENST00000470030,;CPSF3L,downstream_gene_variant,,ENST00000527098,;CPSF3L,downstream_gene_variant,,ENST00000532772,;CPSF3L,downstream_gene_variant,,ENST00000528879,;CPSF3L,downstream_gene_variant,,ENST00000488042,;CPSF3L,downstream_gene_variant,,ENST00000497304,;CPSF3L,downstream_gene_variant,,ENST00000461514,;CPSF3L,downstream_gene_variant,,ENST00000485710,;CPSF3L,downstream_gene_variant,,ENST00000531377,;CPSF3L,downstream_gene_variant,,ENST00000525164,;CPSF3L,downstream_gene_variant,,ENST00000531292,;CPSF3L,downstream_gene_variant,,ENST00000525769,;CPSF3L,downstream_gene_variant,,ENST00000527383,;CPSF3L,downstream_gene_variant,,ENST00000467408,;ACAP3,upstream_gene_variant,,ENST00000354980,;CPSF3L,downstream_gene_variant,,ENST00000531020,;ACAP3,upstream_gene_variant,,ENST00000479108,;CPSF3L,downstream_gene_variant,,ENST00000533916,;							MODERATE	352/912	D118Y	PUSL1_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000368318		CCDS20.1			1	
VWA5B1	0	LGGM	GRCh37	1	20662946	20662946	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	5	2	.	.	ENST00000375079.2:c.1909C>A	p.Arg637=	p.R637=	ENST00000375079	NM_001039500.2	637	Cgg/Agg	0	1	1	UPI000066D8B8	0		ENST00000375079		ENSG00000158816	26538		7			HGNC	p.R637R		VWA5B1		SNV							ENST00000289815	protein_coding			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109		R		A		2105/3859				E9PQ62_HUMAN,E9PP07_HUMAN			YES	VWA5B1,synonymous_variant,p.=,ENST00000289815,;VWA5B1,synonymous_variant,p.=,ENST00000375079,NM_001039500.2;VWA5B1,synonymous_variant,p.=,ENST00000375083,;VWA5B1,synonymous_variant,p.=,ENST00000289825,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,synonymous_variant,p.=,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,3_prime_UTR_variant,,ENST00000473325,;							LOW	1909/3663		VW5B1_HUMAN			Transcript			.	ENSP00000364220					1	
VWA5B1	0	LGGM	GRCh37	1	20669778	20669778	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	1	2	.	.	ENST00000375079.2:c.2518G>T	p.Gly840Cys	p.G840C	ENST00000375079	NM_001039500.2	840	Ggc/Tgc	0	1	1	UPI000066D8B8	0	NA	ENST00000375079		ENSG00000158816	26538		3	0.695		HGNC	p.G840C		VWA5B1		SNV							ENST00000289815	protein_coding	getma.org/?cm=var&var=hg19,1,20669778,G,T&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF109		G/C		T	neutral	2714/3859		getma.org/?cm=msa&ty=f&p=VW5B1_HUMAN&rb=582&re=1218&var=G840C	tolerated(0.05)	E9PQ62_HUMAN,E9PP07_HUMAN			YES	VWA5B1,missense_variant,p.Gly840Cys,ENST00000289815,;VWA5B1,missense_variant,p.Gly840Cys,ENST00000375079,NM_001039500.2;VWA5B1,missense_variant,p.Gly840Cys,ENST00000375083,;VWA5B1,non_coding_transcript_exon_variant,,ENST00000525343,;VWA5B1,missense_variant,p.Gly267Cys,ENST00000467486,;VWA5B1,3_prime_UTR_variant,,ENST00000485375,;VWA5B1,downstream_gene_variant,,ENST00000473325,;							MODERATE	2518/3663	G840C	VW5B1_HUMAN			Transcript		benign(0.029)	.	ENSP00000364220					1	
NAP1L3	0	LGGM	GRCh37	X	92927881	92927881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	22	3	.	.	ENST00000373079.3:c.423G>T	p.Lys141Asn	p.K141N	ENST00000373079	NM_004538.5	141	aaG/aaT	0	1	1	UPI0000167B31	0	NA	ENST00000373079		ENSG00000186310	7639		25	1.385		HGNC	p.K141N		NAP1L3		SNV							ENST00000373079	protein_coding	getma.org/?cm=var&var=hg19,X,92927881,C,A&fts=all		Superfamily_domains:SSF143113,Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38		K/N		A	low	687/2639		getma.org/?cm=msa&ty=f&p=NP1L3_HUMAN&rb=105&re=215&var=K141N	deleterious(0.02)				YES	NAP1L3,missense_variant,p.Lys141Asn,ENST00000373079,NM_004538.5;NAP1L3,missense_variant,p.Lys134Asn,ENST00000475430,;FAM133A,upstream_gene_variant,,ENST00000538690,NM_001171110.1;FAM133A,upstream_gene_variant,,ENST00000355813,NM_173698.2,NM_001171109.1;FAM133A,upstream_gene_variant,,ENST00000322139,NM_001171111.1;FAM133A,upstream_gene_variant,,ENST00000332647,;							MODERATE	423/1521	K141N	NP1L3_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000362171		CCDS14465.1			1	
SLC26A5	0	LGGM	GRCh37	7	103029535	103029535	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	41	3	.	.	ENST00000306312.3:c.1434C>A	p.Ser478=	p.S478=	ENST00000306312	NM_198999.2	478	tcC/tcA	0	1	1	UPI0000132195	0		ENST00000306312		ENSG00000170615	9359		44			HGNC	p.S478S		SLC26A5		SNV			1				ENST00000339444	protein_coding			hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix		S		T		1696/2689				Q496J1_HUMAN			YES	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;SLC26A5,5_prime_UTR_variant,,ENST00000354356,;SLC26A5,intron_variant,,ENST00000356767,NM_206885.2;SLC26A5,synonymous_variant,p.=,ENST00000423416,;SLC26A5,synonymous_variant,p.=,ENST00000454864,;SLC26A5,3_prime_UTR_variant,,ENST00000456463,;SLC26A5,3_prime_UTR_variant,,ENST00000445809,;SLC26A5,non_coding_transcript_exon_variant,,ENST00000487407,;							LOW	1434/2235		S26A5_HUMAN			Transcript			.	ENSP00000304783		CCDS5733.1			1	
TTN	0	LGGM	GRCh37	2	179393932	179393932	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	28	3	.	.	ENST00000589042.1:c.106546G>T	p.Glu35516Ter	p.E35516*	ENST00000589042	NM_001267550.1	35516	Gag/Tag	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		31	0		HGNC	p.E32948X		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179393932,C,A&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		E/*		A	NA	101848/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Glu35516Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Glu33875Ter,ENST00000591111,;TTN,stop_gained,p.Glu32948Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Glu26643Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Glu26576Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Glu26451Ter,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000587944,;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,,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,,ENST00000587568,;TTN-AS1,intron_variant,,ENST00000588716,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000604571,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000592161,;TTN-AS1,upstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000587576,;							HIGH	101623/103053	E33875*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FAM20B	0	LGGM	GRCh37	1	179013071	179013071	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	47	3	.	.	ENST00000263733.4:c.89C>A	p.Thr30Lys	p.T30K	ENST00000263733	NM_014864.3	30	aCa/aAa	0	1	1	UPI000000DB7F	0	NA	ENST00000263733		ENSG00000116199	23017		50	0		HGNC	p.T30K		FAM20B		SNV							ENST00000440702	protein_coding	getma.org/?cm=var&var=hg19,1,179013071,C,A&fts=all		hmmpanther:PTHR12450		T/K		A	neutral	425/5984		getma.org/?cm=msa&ty=f&p=XYLK_HUMAN&rb=1&re=186&var=T30K	tolerated(0.54)				YES	FAM20B,missense_variant,p.Thr30Lys,ENST00000263733,NM_014864.3;FAM20B,missense_variant,p.Thr30Lys,ENST00000440702,;							MODERATE	89/1230	T30K	XYLK_HUMAN			Transcript		benign(0.004)	.	ENSP00000263733		CCDS1328.1			1	
VIT	0	LGGM	GRCh37	2	36994244	36994244	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	38	3	.	.	ENST00000379242.3:c.495C>A	p.Thr165=	p.T165=	ENST00000379242	NM_053276.3	165	acC/acA	0	1		UPI00000389D9	0		ENST00000389975		ENSG00000205221	12697		41			HGNC	p.T143T		VIT		SNV							ENST00000404084	protein_coding			hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF3		T		A		797/2770				C9J6F5_HUMAN				VIT,synonymous_variant,p.=,ENST00000379242,NM_053276.3;VIT,synonymous_variant,p.=,ENST00000389975,NM_001177970.1,NM_001177969.1;VIT,synonymous_variant,p.=,ENST00000379241,NM_001177971.1;VIT,synonymous_variant,p.=,ENST00000404084,;VIT,synonymous_variant,p.=,ENST00000401530,;VIT,5_prime_UTR_variant,,ENST00000497382,;							LOW	495/2037		VITRN_HUMAN			Transcript			.	ENSP00000374625		CCDS54347.1			1	
SEC61A2	0	LGGM	GRCh37	10	12203048	12203048	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	38	3	.	.	ENST00000298428.9:c.1095C>A	p.Ile365=	p.I365=	ENST00000298428	NM_018144.3	365	atC/atA	0	1	1	UPI0000000B0A	0		ENST00000298428		ENSG00000065665	17702		41			HGNC	p.I365I		SEC61A2		SNV							ENST00000298428	protein_coding			hmmpanther:PTHR10906,Pfam_domain:PF00344,Gene3D:1.10.3370.10,TIGRFAM_domain:TIGR00967,PIRSF_domain:PIRSF004557,Superfamily_domains:0043235		I		A		1184/1893				Q9NVQ7_HUMAN			YES	SEC61A2,synonymous_variant,p.=,ENST00000379033,NM_001142628.1;SEC61A2,synonymous_variant,p.=,ENST00000379020,;SEC61A2,synonymous_variant,p.=,ENST00000304267,NM_001142627.1;SEC61A2,synonymous_variant,p.=,ENST00000298428,NM_018144.3;SEC61A2,intron_variant,,ENST00000419021,;NUDT5,downstream_gene_variant,,ENST00000491614,;SEC61A2,downstream_gene_variant,,ENST00000441368,;SEC61A2,downstream_gene_variant,,ENST00000418772,;SEC61A2,non_coding_transcript_exon_variant,,ENST00000495368,;SEC61A2,downstream_gene_variant,,ENST00000466451,;SEC61A2,synonymous_variant,p.=,ENST00000475268,;SEC61A2,downstream_gene_variant,,ENST00000472221,;							LOW	1095/1431		S61A2_HUMAN			Transcript			.	ENSP00000298428		CCDS7088.1			1	
KCNK16	0	LGGM	GRCh37	6	39282931	39282931	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	33	3	.	.	ENST00000425054.2:c.938C>A	p.Pro313His	p.P313H	ENST00000425054	NM_001135105.1	313	cCt/cAt	0	1		UPI0000127A58	0		ENST00000373229		ENSG00000095981	14464		36			HGNC	p.P313H		KCNK16		SNV							ENST00000425054	protein_coding							T		-/1248								KCNK16,missense_variant,p.Pro313His,ENST00000425054,NM_001135105.1;KCNK16,intron_variant,,ENST00000373229,NM_032115.3;KCNK16,intron_variant,,ENST00000507712,;KCNK16,intron_variant,,ENST00000373227,NM_001135107.1;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,;							MODIFIER	-/930		KCNKG_HUMAN			Transcript			.	ENSP00000362326		CCDS4843.1			1	
DHX8	0	LGGM	GRCh37	17	41566827	41566827	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	34	3	.	.	ENST00000262415.3:c.159G>T	p.Val53=	p.V53=	ENST00000262415	NM_004941.1	53	gtG/gtT	0	1	1	UPI00001290D9	0		ENST00000262415		ENSG00000067596	2749		37			HGNC	p.V53V		DHX8		SNV							ENST00000540306	protein_coding			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF85		V		T		231/5558							YES	DHX8,synonymous_variant,p.=,ENST00000262415,NM_004941.1;DHX8,synonymous_variant,p.=,ENST00000540306,;DHX8,synonymous_variant,p.=,ENST00000605777,;DHX8,intron_variant,,ENST00000592258,;DHX8,upstream_gene_variant,,ENST00000587044,;							LOW	159/3663		DHX8_HUMAN			Transcript			.	ENSP00000262415		CCDS11464.1			1	
PROM2	0	LGGM	GRCh37	2	95947089	95947089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	22	3	.	.	ENST00000317620.9:c.1527C>A	p.Ser509Arg	p.S509R	ENST00000317620	NM_001165978.1	509	agC/agA	0	1	1	UPI0000071157	0	NA	ENST00000317620		ENSG00000155066	20685		25	2.38		HGNC	p.S509R		PROM2		SNV							ENST00000317668	protein_coding	getma.org/?cm=var&var=hg19,2,95947089,C,A&fts=all		Pfam_domain:PF05478,hmmpanther:PTHR22730:SF6,hmmpanther:PTHR22730		S/R		A	medium	1660/4728		getma.org/?cm=msa&ty=f&p=PROM2_HUMAN&rb=18&re=817&var=S509R	tolerated(0.09)				YES	PROM2,missense_variant,p.Ser509Arg,ENST00000317620,NM_001165978.1;PROM2,missense_variant,p.Ser509Arg,ENST00000317668,NM_144707.2;PROM2,missense_variant,p.Ser509Arg,ENST00000542147,;PROM2,missense_variant,p.Ser509Arg,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,;							MODERATE	1527/2505	S509R	PROM2_HUMAN			Transcript		possibly_damaging(0.591)	.	ENSP00000318270		CCDS2012.1			1	
KLF6	0	LGGM	GRCh37	10	3822384	3822384	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	28	3	.	.	ENST00000497571.1:c.714G>T	p.Glu238Asp	p.E238D	ENST00000497571	NM_001300.5	238	gaG/gaT	0	1	1	UPI00000015BD	0	getma.org/pdb.php?prot=KLF6_HUMAN&from=216&to=243&var=E238D	ENST00000497571		ENSG00000067082	2235		31	-0.765		HGNC	p.E238D		KLF6		SNV			1				ENST00000497571	protein_coding	getma.org/?cm=var&var=hg19,10,3822384,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF139,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/D		A	neutral	975/4656		getma.org/?cm=msa&ty=f&p=KLF6_HUMAN&rb=196&re=263&var=E238D	tolerated(0.13)	Q7Z3W8_HUMAN			YES	KLF6,missense_variant,p.Glu238Asp,ENST00000497571,NM_001300.5,NM_001160124.1;KLF6,intron_variant,,ENST00000542957,NM_001160125.1;KLF6,downstream_gene_variant,,ENST00000469435,;KLF6,non_coding_transcript_exon_variant,,ENST00000173785,;KLF6,non_coding_transcript_exon_variant,,ENST00000461124,;KLF6,non_coding_transcript_exon_variant,,ENST00000492125,;KLF6,downstream_gene_variant,,ENST00000380946,;							MODERATE	714/852	E238D	KLF6_HUMAN			Transcript		benign(0.389)	.	ENSP00000419923		CCDS7060.1			1	
ASB9	0	LGGM	GRCh37	X	15277026	15277026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	43	3	.	.	ENST00000380488.4:c.136C>A	p.His46Asn	p.H46N	ENST00000380488	NM_001031739.2	46	Cac/Aac	0	1	1	UPI00001260ED	0	getma.org/pdb.php?prot=ASB9_HUMAN&from=40&to=132&var=H46N	ENST00000380488		ENSG00000102048	17184		46	-0.25		HGNC	p.H46N		ASB9		SNV							ENST00000380483	protein_coding	getma.org/?cm=var&var=hg19,X,15277026,G,T&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF0,Gene3D:1.25.40.20,Pfam_domain:PF13637,SMART_domains:SM00248,Superfamily_domains:SSF48403		H/N		T	neutral	410/1678		getma.org/?cm=msa&ty=f&p=ASB9_HUMAN&rb=40&re=132&var=H46N	tolerated(0.33)				YES	ASB9,missense_variant,p.His46Asn,ENST00000546332,NM_001168531.1;ASB9,missense_variant,p.His46Asn,ENST00000380488,NM_001031739.2;ASB9,missense_variant,p.His46Asn,ENST00000380485,NM_024087.2;ASB9,missense_variant,p.His46Asn,ENST00000380483,NM_001168530.1;ASB9,upstream_gene_variant,,ENST00000477346,;ASB9,non_coding_transcript_exon_variant,,ENST00000473862,;ASB9,non_coding_transcript_exon_variant,,ENST00000470015,;ASB9,non_coding_transcript_exon_variant,,ENST00000481384,;ASB9,non_coding_transcript_exon_variant,,ENST00000484017,;							MODERATE	136/885	H46N	ASB9_HUMAN			Transcript		benign(0.023)	.	ENSP00000369855		CCDS35208.1			1	
ZBTB32	0	LGGM	GRCh37	19	36205738	36205738	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	25	3	.	.	ENST00000392197.2:c.210C>A	p.Thr70=	p.T70=	ENST00000392197		70	acC/acA	0	1		UPI0000038C8C	0		ENST00000262630		ENSG00000011590	16763		28			HGNC	p.T70T		ZBTB32		SNV							ENST00000481182	protein_coding			Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR11389:SF456,hmmpanther:PTHR11389,PROSITE_profiles:PS50097		T		A		420/1960				K7EMJ1_HUMAN				ZBTB32,synonymous_variant,p.=,ENST00000392197,;ZBTB32,synonymous_variant,p.=,ENST00000262630,NM_014383.1;ZBTB32,intron_variant,,ENST00000426659,;KMT2B,upstream_gene_variant,,ENST00000420124,;KMT2B,upstream_gene_variant,,ENST00000222270,NM_014727.1;KMT2B,upstream_gene_variant,,ENST00000341701,;KMT2B,upstream_gene_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000606995,;ZBTB32,downstream_gene_variant,,ENST00000442282,;ZBTB32,downstream_gene_variant,,ENST00000451726,;ZBTB32,synonymous_variant,p.=,ENST00000481182,;							LOW	210/1464		ZBT32_HUMAN			Transcript			.	ENSP00000262630		CCDS12471.1			1	
DLEC1	0	LGGM	GRCh37	3	38087117	38087117	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	30	3	.	.	ENST00000308059.6:c.495G>T	p.Ala165=	p.A165=	ENST00000308059		165	gcG/gcT	0	1	1	UPI00006EB134	0		ENST00000308059		ENSG00000008226	2899		33			HGNC	p.A165A		DLEC1		SNV			1				ENST00000452631	protein_coding			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8		A		T		516/6426							YES	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,;							LOW	495/5268		DLEC1_HUMAN			Transcript			.	ENSP00000308597		CCDS2672.2			1	
NRBP1	0	LGGM	GRCh37	2	27660169	27660169	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	13	3	.	.	ENST00000233557.3:c.845A>G	p.Tyr282Cys	p.Y282C	ENST00000233557		282	tAt/tGt	0	1	1	UPI0000035B7E	0	getma.org/pdb.php?prot=NRBP_HUMAN&from=80&to=327&var=Y282C	ENST00000233557		ENSG00000115216	7993		16	2.05		HGNC	p.Y282C	rs767730395	NRBP1		SNV							ENST00000379852	protein_coding	getma.org/?cm=var&var=hg19,2,27660169,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF48,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		Y/C		G	medium	1677/2887		getma.org/?cm=msa&ty=f&p=NRBP_HUMAN&rb=80&re=327&var=Y282C	tolerated(0.15)	C9JHZ6_HUMAN,C9JDW7_HUMAN			YES	NRBP1,missense_variant,p.Tyr282Cys,ENST00000233557,;NRBP1,missense_variant,p.Tyr290Cys,ENST00000379863,;NRBP1,missense_variant,p.Tyr282Cys,ENST00000379852,NM_013392.2;NRBP1,downstream_gene_variant,,ENST00000419281,;NRBP1,downstream_gene_variant,,ENST00000356442,;NRBP1,non_coding_transcript_exon_variant,,ENST00000460499,;NRBP1,upstream_gene_variant,,ENST00000486701,;NRBP1,downstream_gene_variant,,ENST00000493768,;NRBP1,downstream_gene_variant,,ENST00000493746,;							MODERATE	845/1608	Y282C	NRBP_HUMAN			Transcript		benign(0.004)	.	ENSP00000233557		CCDS1753.1			1	
VWF	0	LGGM	GRCh37	12	6161714	6161714	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	46	3	.	.	ENST00000261405.5:c.2181C>A	p.Thr727=	p.T727=	ENST00000261405	NM_000552.3	727	acC/acA	0	1	1	UPI00001AE7EE	0		ENST00000261405		ENSG00000110799	12726		49			HGNC	p.T727T		VWF		SNV			1				ENST00000261405	protein_coding			PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259		T		T		2436/8838				H2DLA2_HUMAN			YES	VWF,synonymous_variant,p.=,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;							LOW	2181/8442		VWF_HUMAN			Transcript			.	ENSP00000261405		CCDS8539.1			1	
KIF12	0	LGGM	GRCh37	9	116854858	116854858	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	4	3	.	.	ENST00000374118.3:c.1247C>A	p.Pro416Gln	p.P416Q	ENST00000374118	NM_138424.1	416	cCa/cAa	0	1	1	UPI00000729C3	0	NA	ENST00000374118		ENSG00000136883	21495		7	0.975		HGNC	p.P549Q		KIF12		SNV							ENST00000259410	protein_coding	getma.org/?cm=var&var=hg19,9,116854858,G,T&fts=all		Low_complexity_(Seg):seg		P/Q		T	low	1485/2003		getma.org/?cm=msa&ty=f&p=KIF12_HUMAN&rb=455&re=646&var=P549Q	deleterious_low_confidence(0)	B1ALC3_HUMAN			YES	KIF12,missense_variant,p.Pro416Gln,ENST00000374118,NM_138424.1;KIF12,intron_variant,,ENST00000498016,;KIF12,downstream_gene_variant,,ENST00000473174,;KIF12,downstream_gene_variant,,ENST00000491059,;KIF12,3_prime_UTR_variant,,ENST00000468460,;							MODERATE	1247/1542	P549Q	KIF12_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000363232		CCDS6801.1			1	
IGFALS	0	LGGM	GRCh37	16	1841532	1841532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	1	3	.	.	ENST00000415638.3:c.1001G>T	p.Arg334Leu	p.R334L	ENST00000415638	NM_001146006.1	334	cGg/cTg	0	1		UPI000000088A	0	getma.org/pdb.php?prot=ALS_HUMAN&from=291&to=350&var=R296L	ENST00000215539		ENSG00000099769	5468		4	0.395		HGNC	p.R296L		IGFALS		SNV			1				ENST00000215539	protein_coding	getma.org/?cm=var&var=hg19,16,1841532,C,A&fts=all		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		R/L		A	neutral	998/2116		getma.org/?cm=msa&ty=f&p=ALS_HUMAN&rb=291&re=350&var=R296L	deleterious(0)					IGFALS,missense_variant,p.Arg334Leu,ENST00000415638,NM_001146006.1,NM_004970.2;IGFALS,missense_variant,p.Arg296Leu,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,;							MODERATE	887/1818	R296L	ALS_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000215539		CCDS10446.1			1	
SPATA31A3	0	LGGM	GRCh37	9	40705816	40705816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	30	3	.	.	ENST00000356699.5:c.3473C>A	p.Pro1158His	p.P1158H	ENST00000356699	NM_001083124.1	1158	cCt/cAt	0	1	1	UPI00004588FC	0	NA	ENST00000356699		ENSG00000147926	32003		33	2.05		HGNC	p.P1158H		SPATA31A3		SNV							ENST00000356699	protein_coding	getma.org/?cm=var&var=hg19,9,40705816,C,A&fts=all		hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859		P/H		A	medium	3502/4223		getma.org/?cm=msa&ty=f&p=F75A3_HUMAN&rb=1&re=1345&var=P1158H	deleterious(0.01)				YES	SPATA31A3,missense_variant,p.Pro1158His,ENST00000356699,NM_001083124.1;RP11-395E19.5,non_coding_transcript_exon_variant,,ENST00000432614,;SPATA31A3,downstream_gene_variant,,ENST00000463536,;							MODERATE	3473/4044	P1158H	S31A3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000349132		CCDS47969.1			1	
HSPD1	0	LGGM	GRCh37	2	198361893	198361893	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	42	3	.	.	ENST00000388968.3:c.398A>C	p.Lys133Thr	p.K133T	ENST00000388968	NM_002156.4	133	aAa/aCa	0	1		UPI0000042366	0	getma.org/pdb.php?prot=CH60_HUMAN&from=47&to=550&var=K133T	ENST00000345042		ENSG00000144381	5261		45	1.775		HGNC	p.K133T		HSPD1		SNV			1				ENST00000544407	protein_coding	getma.org/?cm=var&var=hg19,2,198361893,T,G&fts=all		Prints_domain:PR00298,Superfamily_domains:SSF48592,Pfam_domain:PF00118,Gene3D:1.10.560.10,TIGRFAM_domain:TIGR02348,hmmpanther:PTHR11353,HAMAP:MF_00600		K/T		G	low	515/2299		getma.org/?cm=msa&ty=f&p=CH60_HUMAN&rb=47&re=550&var=K133T	deleterious(0.04)	Q53SE2_HUMAN,Q53QD5_HUMAN,E7EXB4_HUMAN,C9JL19_HUMAN,C9JCQ4_HUMAN,C9J0S9_HUMAN				HSPD1,missense_variant,p.Lys133Thr,ENST00000388968,NM_002156.4;HSPD1,missense_variant,p.Lys133Thr,ENST00000345042,NM_199440.1;HSPD1,missense_variant,p.Lys133Thr,ENST00000452200,;HSPD1,missense_variant,p.Lys133Thr,ENST00000430176,;HSPD1,missense_variant,p.Lys133Thr,ENST00000544407,;HSPD1,missense_variant,p.Lys175Thr,ENST00000426480,;HSPE1,upstream_gene_variant,,ENST00000233893,NM_002157.2;HSPE1-MOB4,upstream_gene_variant,,ENST00000604458,NM_001202485.1;HSPD1,downstream_gene_variant,,ENST00000439605,;HSPE1,upstream_gene_variant,,ENST00000409468,;HSPD1,downstream_gene_variant,,ENST00000428204,;HSPD1,downstream_gene_variant,,ENST00000418022,;HSPE1,upstream_gene_variant,,ENST00000409729,;HSPE1,upstream_gene_variant,,ENST00000465573,;HSPD1,3_prime_UTR_variant,,ENST00000440114,;HSPD1,non_coding_transcript_exon_variant,,ENST00000476746,;HSPD1,non_coding_transcript_exon_variant,,ENST00000461097,;HSPD1,non_coding_transcript_exon_variant,,ENST00000486181,;HSPE1,upstream_gene_variant,,ENST00000463841,;HSPE1,upstream_gene_variant,,ENST00000473395,;HSPE1,upstream_gene_variant,,ENST00000495200,;HSPD1,upstream_gene_variant,,ENST00000482167,;							MODERATE	398/1722	K133T	CH60_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000340019		CCDS33357.1			1	
WDR31	0	LGGM	GRCh37	9	116091200	116091200	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	38	3	.	.	ENST00000374193.4:c.285G>T	p.Val95=	p.V95=	ENST00000374193	NM_145241.3	95	gtG/gtT	0	1	1	UPI000006D080	0		ENST00000374193		ENSG00000148225	21421		41			HGNC	p.W51L		WDR31		SNV							ENST00000465205	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR19869,SMART_domains:SM00320,Superfamily_domains:SSF50978		V		A		532/4878				G5E996_HUMAN			YES	WDR31,synonymous_variant,p.=,ENST00000374193,NM_145241.3,NM_001012361.2;WDR31,synonymous_variant,p.=,ENST00000341761,;WDR31,synonymous_variant,p.=,ENST00000465979,;WDR31,5_prime_UTR_variant,,ENST00000374195,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,missense_variant,p.Trp51Leu,ENST00000465205,;							LOW	285/1104		WDR31_HUMAN			Transcript			.	ENSP00000363308		CCDS35110.1			1	
ATF7IP2	0	LGGM	GRCh37	16	10532003	10532003	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	40	3	.	.	ENST00000396560.2:c.1006C>A	p.Leu336Ile	p.L336I	ENST00000396560	NM_024997.3	336	Cta/Ata	0	1		UPI00001FEDD8	0	NA	ENST00000356427		ENSG00000166669	20397		43	1.185		HGNC	p.L336I		ATF7IP2		SNV							ENST00000535850	protein_coding	getma.org/?cm=var&var=hg19,16,10532003,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23210,hmmpanther:PTHR23210:SF6		L/I		A	low	1032/3463		getma.org/?cm=msa&ty=f&p=MCAF2_HUMAN&rb=1&re=568&var=L336I	tolerated(0.2)	H3BUP1_HUMAN,H3BR07_HUMAN,H3BPC9_HUMAN,H3BNE6_HUMAN,B4DKH3_HUMAN				ATF7IP2,missense_variant,p.Leu336Ile,ENST00000396560,NM_024997.3;ATF7IP2,missense_variant,p.Leu336Ile,ENST00000396559,NM_001256160.1;ATF7IP2,missense_variant,p.Leu336Ile,ENST00000356427,;ATF7IP2,missense_variant,p.Leu336Ile,ENST00000324570,;ATF7IP2,intron_variant,,ENST00000543967,;ATF7IP2,missense_variant,p.Leu336Ile,ENST00000568027,;ATF7IP2,missense_variant,p.Leu336Ile,ENST00000535850,;							MODERATE	1006/2049	L336I	MCAF2_HUMAN			Transcript		benign(0.187)	.	ENSP00000348799		CCDS10540.1			1	
NFE2	0	LGGM	GRCh37	12	54686262	54686262	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	36	3	.	.	ENST00000540264.2:c.1018G>T	p.Glu340Ter	p.E340*	ENST00000540264		340	Gaa/Taa	0	1		UPI000012FFBA	0	NA	ENST00000312156		ENSG00000123405	7780		39	0		HGNC	p.E340X		NFE2		SNV							ENST00000553198	protein_coding	getma.org/?cm=var&var=hg19,12,54686262,C,A&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF30		E/*		A	NA	1291/1658		NA		F8W1N9_HUMAN,A8K3E0_HUMAN				NFE2,stop_gained,p.Glu340Ter,ENST00000540264,;NFE2,stop_gained,p.Glu340Ter,ENST00000435572,NM_001136023.2;NFE2,stop_gained,p.Glu340Ter,ENST00000312156,NM_006163.2;NFE2,stop_gained,p.Glu340Ter,ENST00000553070,NM_001261461.1;NFE2,stop_gained,p.Glu340Ter,ENST00000553198,;RP11-968A15.8,intron_variant,,ENST00000553061,;							HIGH	1018/1122	E340*	NFE2_HUMAN			Transcript			.	ENSP00000312436		CCDS8876.1			1	
NUP210	0	LGGM	GRCh37	3	13441351	13441351	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	20	3	.	.	ENST00000254508.5:c.178C>A	p.Arg60=	p.R60=	ENST00000254508	NM_024923.3	60	Cgg/Agg	0	1	1	UPI00001600AF	0		ENST00000254508		ENSG00000132182	30052		23			HGNC	p.R60R		NUP210		SNV							ENST00000254508	protein_coding			hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2		R		T		261/7191							YES	NUP210,synonymous_variant,p.=,ENST00000254508,NM_024923.3;NUP210,non_coding_transcript_exon_variant,,ENST00000420141,;							LOW	178/5664		PO210_HUMAN			Transcript			.	ENSP00000254508		CCDS33704.1			1	
TFAP2E	0	LGGM	GRCh37	1	36053944	36053944	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	36	3	.	.	ENST00000373235.3:c.576C>A	p.Ser192=	p.S192=	ENST00000373235	NM_178548.3	192	tcC/tcA	0	1	1	UPI0000203EFC	0		ENST00000373235		ENSG00000116819	30774		39			HGNC	p.S192S		TFAP2E		SNV							ENST00000373235	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF13		S		A		784/2189							YES	TFAP2E,synonymous_variant,p.=,ENST00000373235,NM_178548.3;							LOW	576/1329		AP2E_HUMAN			Transcript			.	ENSP00000362332		CCDS393.2			1	
CELF2	0	LGGM	GRCh37	10	11312689	11312689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	32	3	.	.	ENST00000450189.1:c.679C>A	p.Arg227Ser	p.R227S	ENST00000450189	NM_006561.3	227	Cgc/Agc	0	1		UPI0000072DD8	0	NA	ENST00000416382		ENSG00000048740	2550		35	2.61		HGNC	p.R196S		CELF2		SNV							ENST00000399850	protein_coding	getma.org/?cm=var&var=hg19,10,11312689,C,A&fts=all		Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24622:SF164,hmmpanther:PTHR24622,Low_complexity_(Seg):seg		R/S		A	medium	658/2398		getma.org/?cm=msa&ty=f&p=CELF2_HUMAN&rb=203&re=402&var=R220S	deleterious(0)	B4DZ01_HUMAN,B4DT00_HUMAN				CELF2,missense_variant,p.Arg220Ser,ENST00000379261,NM_001025077.2;CELF2,missense_variant,p.Arg196Ser,ENST00000315874,NM_001025076.2,NM_001083591.1;CELF2,missense_variant,p.Arg196Ser,ENST00000427450,;CELF2,missense_variant,p.Arg227Ser,ENST00000450189,NM_006561.3;CELF2,missense_variant,p.Arg196Ser,ENST00000354440,;CELF2,missense_variant,p.Arg227Ser,ENST00000542579,;CELF2,missense_variant,p.Arg220Ser,ENST00000416382,;CELF2,missense_variant,p.Arg196Ser,ENST00000399850,;CELF2,missense_variant,p.Arg196Ser,ENST00000417956,;CELF2,missense_variant,p.Arg196Ser,ENST00000609692,;CELF2,missense_variant,p.Arg196Ser,ENST00000608830,;CELF2,missense_variant,p.Arg196Ser,ENST00000354897,;CELF2,missense_variant,p.Arg109Ser,ENST00000537122,;CELF2,3_prime_UTR_variant,,ENST00000609870,;							MODERATE	658/1527	R220S	CELF2_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000406451		CCDS44354.1			1	
IFT80	0	LGGM	GRCh37	3	160037652	160037652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	46	3	.	.	ENST00000326448.7:c.853G>T	p.Ala285Ser	p.A285S	ENST00000326448	NM_020800.2	285	Gct/Tct	0	1	1	UPI0000160F16	0	NA	ENST00000326448		ENSG00000068885	29262		49	2.98		HGNC	p.A456S	rs775067004	IFT80	6.06E-05	SNV			1				ENST00000483754	protein_coding	getma.org/?cm=var&var=hg19,3,160037652,C,A&fts=all		hmmpanther:PTHR24098:SF8,hmmpanther:PTHR24098,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978		A/S		A	medium	1286/4306		getma.org/?cm=msa&ty=f&p=IFT80_HUMAN&rb=257&re=456&var=A285S	deleterious(0.05)	C9JUJ1_HUMAN,C9JUI1_HUMAN,C9JSB1_HUMAN,C9J6I5_HUMAN,C9J6G8_HUMAN,C9J627_HUMAN,C9IZR2_HUMAN			YES	IFT80,missense_variant,p.Ala285Ser,ENST00000326448,NM_020800.2;IFT80,missense_variant,p.Ala148Ser,ENST00000483465,NM_001190242.1;IFT80,missense_variant,p.Ala148Ser,ENST00000496589,NM_001190241.1;IFT80,non_coding_transcript_exon_variant,,ENST00000478460,;RP11-432B6.3,missense_variant,p.Ala456Ser,ENST00000483754,;IFT80,3_prime_UTR_variant,,ENST00000472555,;IFT80,non_coding_transcript_exon_variant,,ENST00000487943,;IFT80,non_coding_transcript_exon_variant,,ENST00000461213,;							MODERATE	853/2334	A285S	IFT80_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000312778	8.24E-06	CCDS3188.1			1	
MFI2	0	LGGM	GRCh37	3	196736683	196736683	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	20	3	.	.	ENST00000296350.5:c.1331C>A	p.Pro444Gln	p.P444Q	ENST00000296350	NM_005929.5	444	cCg/cAg	0	1	1	UPI000013E329	0	getma.org/pdb.php?prot=TRFM_HUMAN&from=366&to=706&var=P444Q	ENST00000296350		ENSG00000163975	7037		23	-0.515		HGNC	p.P444Q	rs149714057	MFI2		SNV	A:0.0002						ENST00000296350	protein_coding	getma.org/?cm=var&var=hg19,3,196736683,G,T&fts=all	A:0	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		P/Q	A:0	T	neutral	1445/3963		getma.org/?cm=msa&ty=f&p=TRFM_HUMAN&rb=366&re=706&var=P444Q	tolerated(0.54)		A:0	A:0	YES	MFI2,missense_variant,p.Pro444Gln,ENST00000296350,NM_005929.5;		A:0.0002					MODERATE	1331/2217	P444Q	TRFM_HUMAN		A:0.001	Transcript		benign(0.102)	.	ENSP00000296350		CCDS3325.1		A:0	1	
NLGN2	0	LGGM	GRCh37	17	7312023	7312023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	7	3	.	.	ENST00000302926.2:c.449C>A	p.Thr150Asn	p.T150N	ENST00000302926	NM_020795.3	150	aCc/aAc	0	1	1	UPI0000049FD2	0	getma.org/pdb.php?prot=NLGN2_HUMAN&from=30&to=601&var=T150N	ENST00000302926		ENSG00000169992	14290		10	0.84		HGNC	p.T150N		NLGN2		SNV							ENST00000575301	protein_coding	getma.org/?cm=var&var=hg19,17,7312023,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF53,Superfamily_domains:SSF53474		T/N		A	low	522/4642		getma.org/?cm=msa&ty=f&p=NLGN2_HUMAN&rb=30&re=601&var=T150N	deleterious(0)				YES	NLGN2,missense_variant,p.Thr150Asn,ENST00000302926,NM_020795.3;NLGN2,missense_variant,p.Thr150Asn,ENST00000575301,;NLGN2,missense_variant,p.Thr22Asn,ENST00000570940,;TMEM256-PLSCR3,upstream_gene_variant,,ENST00000535512,;TMEM256,upstream_gene_variant,,ENST00000576017,;TMEM256,upstream_gene_variant,,ENST00000302422,NM_152766.3;NLGN2,downstream_gene_variant,,ENST00000572893,;C17orf61-PLSCR3,upstream_gene_variant,,ENST00000573331,;C17orf61-PLSCR3,upstream_gene_variant,,ENST00000570600,;C17orf61-PLSCR3,upstream_gene_variant,,ENST00000570569,;							MODERATE	449/2508	T150N	NLGN2_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000305288		CCDS11103.1			1	
NSUN2	0	LGGM	GRCh37	5	6600308	6600308	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	45	3	.	.	ENST00000264670.6:c.2035G>T	p.Gly679Ter	p.G679*	ENST00000264670	NM_017755.5	679	Gga/Tga	0	1	1	UPI000020BF2B	0	NA	ENST00000264670		ENSG00000037474	25994		48	0		HGNC	p.G679X		NSUN2		SNV			1				ENST00000264670	protein_coding	getma.org/?cm=var&var=hg19,5,6600308,C,A&fts=all		hmmpanther:PTHR22808,hmmpanther:PTHR22808:SF1		G/*		A	NA	2347/3303		NA		G3V1R4_HUMAN			YES	NSUN2,stop_gained,p.Gly679Ter,ENST00000264670,NM_017755.5;NSUN2,stop_gained,p.Gly443Ter,ENST00000539938,;NSUN2,stop_gained,p.Gly644Ter,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,;							HIGH	2035/2304	G679*	NSUN2_HUMAN			Transcript			.	ENSP00000264670		CCDS3869.1			1	
MAGEB6	0	LGGM	GRCh37	X	26212389	26212389	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	30	3	.	.	ENST00000379034.1:c.426C>A	p.Val142=	p.V142=	ENST00000379034	NM_173523.2	142	gtC/gtA	0	1	1	UPI00001413F4	0		ENST00000379034		ENSG00000176746	23796		33			HGNC	p.V142V		MAGEB6		SNV							ENST00000379034	protein_coding			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF67		V		A		575/1949							YES	MAGEB6,synonymous_variant,p.=,ENST00000379034,NM_173523.2;							LOW	426/1224		MAGB6_HUMAN			Transcript			.	ENSP00000368320		CCDS14217.1			1	
MRPL16	0	LGGM	GRCh37	11	59574104	59574104	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	33	3	.	.	ENST00000300151.4:c.472C>A	p.Arg158Ser	p.R158S	ENST00000300151	NM_017840.3	158	Cgc/Agc	0	1	1	UPI0000073D9D	0	getma.org/pdb.php?prot=RM16_HUMAN&from=51&to=191&var=R158S	ENST00000300151		ENSG00000166902	14476		36	3.505		HGNC	p.R158S		MRPL16		SNV							ENST00000300151	protein_coding	getma.org/?cm=var&var=hg19,11,59574104,G,T&fts=all		Gene3D:3.90.1170.10,Pfam_domain:PF00252,Prints_domain:PR00060,hmmpanther:PTHR12220,hmmpanther:PTHR12220:SF13,Superfamily_domains:SSF54686		R/S		T	high	686/1182		getma.org/?cm=msa&ty=f&p=RM16_HUMAN&rb=51&re=191&var=R158S	deleterious(0)	E9PI14_HUMAN			YES	MRPL16,missense_variant,p.Arg158Ser,ENST00000300151,NM_017840.3;MRPL16,missense_variant,p.Arg55Ser,ENST00000534340,;STX3,downstream_gene_variant,,ENST00000535361,;STX3,downstream_gene_variant,,ENST00000337979,NM_001178040.1,NM_004177.4;STX3,downstream_gene_variant,,ENST00000300150,;MRPL16,downstream_gene_variant,,ENST00000525470,;MRPL16,downstream_gene_variant,,ENST00000531802,;							MODERATE	472/756	R158S	RM16_HUMAN			Transcript		benign(0.054)	.	ENSP00000300151		CCDS7976.1			1	
SSH2	0	LGGM	GRCh37	17	27999140	27999140	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	27	3	.	.	ENST00000269033.3:c.541C>A	p.Leu181Ile	p.L181I	ENST00000269033	NM_033389.2	181	Cta/Ata	0	1	1	UPI00001D6272	0	NA	ENST00000269033		ENSG00000141298	30580		30	2.16		HGNC	p.L208I		SSH2		SNV							ENST00000540801	protein_coding	getma.org/?cm=var&var=hg19,17,27999140,G,T&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF106		L/I		T	medium	693/9327		getma.org/?cm=msa&ty=f&p=SSH2_HUMAN&rb=1&re=200&var=L181I	deleterious(0.01)	J3KSQ9_HUMAN			YES	SSH2,missense_variant,p.Leu181Ile,ENST00000269033,NM_033389.2,NM_001282129.1;SSH2,missense_variant,p.Leu208Ile,ENST00000540801,;RP11-68I3.2,intron_variant,,ENST00000581474,;SSH2,downstream_gene_variant,,ENST00000324677,;SSH2,non_coding_transcript_exon_variant,,ENST00000394848,;SSH2,downstream_gene_variant,,ENST00000577483,;SSH2,downstream_gene_variant,,ENST00000579040,NM_001282130.1;							MODERATE	541/4272	L181I	SSH2_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000269033		CCDS11253.1			1	
SCFD2	0	LGGM	GRCh37	4	54232054	54232054	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	30	3	.	.	ENST00000401642.3:c.55G>A	p.Ala19Thr	p.A19T	ENST00000401642	NM_152540.3	19	Gcc/Acc	0	1	1	UPI000006FB05	0	NA	ENST00000401642		ENSG00000184178	30676		33	1.78		HGNC	p.A19T	COSM4125086	SCFD2		SNV						1	ENST00000401642	protein_coding	getma.org/?cm=var&var=hg19,4,54232054,C,T&fts=all		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF29		A/T		T	low	189/3176		getma.org/?cm=msa&ty=f&p=SCFD2_HUMAN&rb=1&re=200&var=A19T	tolerated(0.1)	D6RCK6_HUMAN			YES	SCFD2,missense_variant,p.Ala19Thr,ENST00000401642,NM_152540.3;SCFD2,missense_variant,p.Ala19Thr,ENST00000388940,;SCFD2,intron_variant,,ENST00000503450,;					1		MODERATE	55/2055	A19T	SCFD2_HUMAN			Transcript		benign(0.016)	.	ENSP00000384182		CCDS33984.1			1	
ZDHHC13	0	LGGM	GRCh37	11	19170818	19170818	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	41	3	.	.	ENST00000446113.2:c.459C>A	p.Ile153=	p.I153=	ENST00000446113	NM_019028.2	153	atC/atA	0	1	1	UPI000015F967	0		ENST00000446113		ENSG00000177054	18413		44			HGNC	p.I23I		ZDHHC13		SNV							ENST00000399351	protein_coding			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF16,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		I		A		580/2445							YES	ZDHHC13,synonymous_variant,p.=,ENST00000446113,NM_019028.2;ZDHHC13,synonymous_variant,p.=,ENST00000399351,NM_001001483.2;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000532812,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000530698,;ZDHHC13,downstream_gene_variant,,ENST00000532026,;ZDHHC13,non_coding_transcript_exon_variant,,ENST00000525490,;							LOW	459/1869		ZDH13_HUMAN			Transcript			.	ENSP00000400113		CCDS44550.1			1	
ZC3H12C	0	LGGM	GRCh37	11	110036399	110036399	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	39	3	.	.	ENST00000278590.3:c.2589C>A	p.His863Gln	p.H863Q	ENST00000278590	NM_033390.1	863	caC/caA	0	1	1	UPI0000DD80B8	0	NA	ENST00000278590		ENSG00000149289	29362		42	2.085		HGNC	p.H864Q		ZC3H12C		SNV							ENST00000528673	protein_coding	getma.org/?cm=var&var=hg19,11,110036399,C,A&fts=all		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24		H/Q		A	medium	2640/8807		getma.org/?cm=msa&ty=f&p=ZC12C_HUMAN&rb=457&re=881&var=H863Q	deleterious(0)	E9PP00_HUMAN			YES	ZC3H12C,missense_variant,p.His832Gln,ENST00000453089,;ZC3H12C,missense_variant,p.His863Gln,ENST00000278590,NM_033390.1;ZC3H12C,missense_variant,p.His864Gln,ENST00000528673,;							MODERATE	2589/2652	H863Q	ZC12C_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000278590		CCDS44727.1			1	
SIN3B	0	LGGM	GRCh37	19	16957783	16957783	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	41	3	.	.	ENST00000379803.1:c.585G>T	p.Lys195Asn	p.K195N	ENST00000379803	NM_015260.2	195	aaG/aaT	0	1	1	UPI0000425EFA	0	getma.org/pdb.php?prot=SIN3B_HUMAN&from=180&to=236&var=K195N	ENST00000379803		ENSG00000127511	19354		44	2.37		HGNC	p.K195N		SIN3B		SNV							ENST00000248054	protein_coding	getma.org/?cm=var&var=hg19,19,16957783,G,T&fts=all		Gene3D:1g1eB00,Pfam_domain:PF02671,PROSITE_profiles:PS51477,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1,Superfamily_domains:SSF47762		K/N		T	medium	599/5129		getma.org/?cm=msa&ty=f&p=SIN3B_HUMAN&rb=180&re=236&var=K195N	deleterious(0)				YES	SIN3B,missense_variant,p.Lys195Asn,ENST00000379803,NM_015260.2;SIN3B,missense_variant,p.Lys195Asn,ENST00000248054,;SIN3B,missense_variant,p.Lys195Asn,ENST00000596802,;SIN3B,missense_variant,p.Lys7Asn,ENST00000596638,;CTD-2538G9.5,downstream_gene_variant,,ENST00000600987,;							MODERATE	585/3489	K195N	SIN3B_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000369131		CCDS32946.1			1	
SCARA3	0	LGGM	GRCh37	8	27514321	27514321	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	26	3	.	.	ENST00000301904.3:c.249C>A	p.Leu83=	p.L83=	ENST00000301904	NM_016240.2	83	ctC/ctA	0	1	1	UPI00001B94D8	0		ENST00000301904		ENSG00000168077	19000		29			HGNC	p.L83L		SCARA3		SNV							ENST00000301904	protein_coding			hmmpanther:PTHR24637,hmmpanther:PTHR24637:SF210		L		A		269/3510							YES	SCARA3,synonymous_variant,p.=,ENST00000301904,NM_016240.2;SCARA3,synonymous_variant,p.=,ENST00000337221,NM_182826.1;							LOW	249/1821		SCAR3_HUMAN			Transcript			.	ENSP00000301904		CCDS34871.1			1	
ASAP2	0	LGGM	GRCh37	2	9474920	9474920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	46	3	.	.	ENST00000281419.3:c.740C>A	p.Thr247Lys	p.T247K	ENST00000281419	NM_003887.2	247	aCg/aAg	0	1	1	UPI0000073459	0	NA	ENST00000281419		ENSG00000151693	2721		49	-2.045		HGNC	p.T247K		ASAP2		SNV							ENST00000315273	protein_coding	getma.org/?cm=var&var=hg19,2,9474920,C,A&fts=all		Superfamily_domains:SSF103657,Gene3D:1.20.1270.60,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238		T/K		A	neutral	1080/5712		getma.org/?cm=msa&ty=f&p=ASAP2_HUMAN&rb=201&re=305&var=T247K	tolerated(1)	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN			YES	ASAP2,missense_variant,p.Thr247Lys,ENST00000281419,NM_003887.2;ASAP2,missense_variant,p.Thr247Lys,ENST00000315273,NM_001135191.1;							MODERATE	740/3021	T247K	ASAP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000281419		CCDS1661.1			1	
FASN	0	LGGM	GRCh37	17	80040011	80040011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	41	3	.	.	ENST00000306749.2:c.6037C>A	p.Leu2013Met	p.L2013M	ENST00000306749	NM_004104.4	2013	Ctg/Atg	0	1	1	UPI000013EB82	0	getma.org/pdb.php?prot=FAS_HUMAN&from=1885&to=2053&var=L2013M	ENST00000306749		ENSG00000169710	3594		44	3.17		HGNC	p.L2013M		FASN		SNV							ENST00000306749	protein_coding	getma.org/?cm=var&var=hg19,17,80040011,G,T&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF08659,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,SMART_domains:SM00822,Superfamily_domains:SSF51735		L/M		T	medium	6256/8560		getma.org/?cm=msa&ty=f&p=FAS_HUMAN&rb=1885&re=2053&var=L2013M	deleterious(0.03)				YES	FASN,missense_variant,p.Leu2013Met,ENST00000306749,NM_004104.4;FASN,non_coding_transcript_exon_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000580382,;FASN,downstream_gene_variant,,ENST00000579410,;							MODERATE	6037/7536	L2013M	FAS_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000304592		CCDS11801.1			1	
FSCB	0	LGGM	GRCh37	14	44974435	44974435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	43	3	.	.	ENST00000340446.4:c.1756G>T	p.Ala586Ser	p.A586S	ENST00000340446	NM_032135.3	586	Gca/Tca	0	1	1	UPI00001FD466	0	NA	ENST00000340446		ENSG00000189139	20494		46	1.735		HGNC	p.A586S		FSCB		SNV							ENST00000340446	protein_coding	getma.org/?cm=var&var=hg19,14,44974435,C,A&fts=all		Low_complexity_(Seg):seg		A/S		A	low	2048/2938		getma.org/?cm=msa&ty=f&p=FSCB_HUMAN&rb=1&re=823&var=A586S	tolerated(0.1)				YES	FSCB,missense_variant,p.Ala586Ser,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,;							MODERATE	1756/2478	A586S	FSCB_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000344579		CCDS9679.1			1	
C1orf52	0	LGGM	GRCh37	1	85718331	85718331	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	35	3	.	.	ENST00000471115.1:c.530C>A	p.Pro177Gln	p.P177Q	ENST00000471115	NM_198077.3	177	cCa/cAa	0	1	1	UPI0000072AC0	0	NA	ENST00000471115		ENSG00000162642	24871		38	-1.04		HGNC	p.P177Q		C1orf52		SNV							ENST00000471115	protein_coding	getma.org/?cm=var&var=hg19,1,85718331,G,T&fts=all		hmmpanther:PTHR31833,hmmpanther:PTHR31833:SF2		P/Q		T	neutral	539/1219		getma.org/?cm=msa&ty=f&p=CA052_HUMAN&rb=1&re=180&var=P177Q	tolerated(1)				YES	C1orf52,missense_variant,p.Pro177Gln,ENST00000471115,NM_198077.3;C1orf52,downstream_gene_variant,,ENST00000344356,;C1orf52,non_coding_transcript_exon_variant,,ENST00000294661,;C1orf52,downstream_gene_variant,,ENST00000493514,;							MODERATE	530/549	P177Q	CA052_HUMAN			Transcript		benign(0.001)	.	ENSP00000419417		CCDS703.1			1	
SRI	0	LGGM	GRCh37	7	87848243	87848243	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	46	3	.	.	ENST00000265729.2:c.66C>A	p.Pro22=	p.P22=	ENST00000265729	NM_003130.3	22	ccC/ccA	0	1	1	UPI0000112055	0		ENST00000265729		ENSG00000075142	11292		49			HGNC	p.P7P		SRI		SNV							ENST00000431660	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10183		P		T		119/2010				Q75MZ6_HUMAN			YES	SRI,synonymous_variant,p.=,ENST00000265729,NM_003130.3;SRI,synonymous_variant,p.=,ENST00000431660,NM_001256892.1;SRI,synonymous_variant,p.=,ENST00000419179,;SRI,synonymous_variant,p.=,ENST00000394641,NM_198901.1;SRI,intron_variant,,ENST00000490437,;CTB-167B5.1,non_coding_transcript_exon_variant,,ENST00000520993,;AC003991.3,upstream_gene_variant,,ENST00000594469,;SRI,synonymous_variant,p.=,ENST00000457606,;SRI,non_coding_transcript_exon_variant,,ENST00000486860,;SRI,non_coding_transcript_exon_variant,,ENST00000488015,;SRI,non_coding_transcript_exon_variant,,ENST00000489079,;							LOW	66/597		SORCN_HUMAN			Transcript			.	ENSP00000265729		CCDS5612.1			1	
PALM3	0	LGGM	GRCh37	19	14165660	14165660	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	33	3	.	.	ENST00000340790.4:c.779G>T	p.Ser260Ile	p.S260I	ENST00000340790	NM_001145028.1	260	aGc/aTc	0	1	1	UPI0001662AC1	0	NA	ENST00000340790		ENSG00000187867	33274		36	1.15		HGNC	p.S260I		PALM3		SNV							ENST00000340790	protein_coding	getma.org/?cm=var&var=hg19,19,14165660,C,A&fts=all		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF6		S/I		A	low	779/2262		getma.org/?cm=msa&ty=f&p=PALM3_HUMAN&rb=1&re=672&var=S260I	deleterious(0.02)	K7EKN5_HUMAN			YES	PALM3,missense_variant,p.Ser260Ile,ENST00000340790,NM_001145028.1;IL27RA,downstream_gene_variant,,ENST00000263379,NM_004843.3;PALM3,downstream_gene_variant,,ENST00000589048,;PALM3,downstream_gene_variant,,ENST00000586368,;							MODERATE	779/2022	S260I	PALM3_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000344996		CCDS46001.1			1	
SHC3	0	LGGM	GRCh37	9	91690045	91690045	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	25	3	.	.	ENST00000375835.4:c.708G>T	p.Leu236=	p.L236=	ENST00000375835	NM_016848.5	236	ctG/ctT	0	1	1	UPI0000073E1F	0		ENST00000375835		ENSG00000148082	18181		28			HGNC	p.L236L		SHC3		SNV							ENST00000375835	protein_coding			PROSITE_profiles:PS01179,hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729		L		A		1015/2394							YES	SHC3,synonymous_variant,p.=,ENST00000375835,NM_016848.5;SHC3,5_prime_UTR_variant,,ENST00000375830,;							LOW	708/1785		SHC3_HUMAN			Transcript			.	ENSP00000364995		CCDS6681.1			1	
PDSS1	0	LGGM	GRCh37	10	27009176	27009176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	28	3	.	.	ENST00000376215.5:c.497C>A	p.Ala166Asp	p.A166D	ENST00000376215	NM_014317.3	166	gCc/gAc	0	1	1	UPI000013DB22	0	getma.org/pdb.php?prot=DPS1_HUMAN&from=120&to=381&var=A166D	ENST00000376215		ENSG00000148459	17759		31	4.62		HGNC	p.A166D		PDSS1		SNV			1				ENST00000376203	protein_coding	getma.org/?cm=var&var=hg19,10,27009176,C,A&fts=all		Gene3D:1.10.600.10,Pfam_domain:PF00348,hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF47,Superfamily_domains:SSF48576		A/D		A	high	550/1626		getma.org/?cm=msa&ty=f&p=DPS1_HUMAN&rb=120&re=381&var=A166D	deleterious(0)				YES	PDSS1,missense_variant,p.Ala166Asp,ENST00000376215,NM_014317.3;PDSS1,missense_variant,p.Ala166Asp,ENST00000376203,;RP13-16H11.5,downstream_gene_variant,,ENST00000458171,;PDSS1,non_coding_transcript_exon_variant,,ENST00000473224,;PDSS1,upstream_gene_variant,,ENST00000491711,;HSPA8P3,downstream_gene_variant,,ENST00000449300,;							MODERATE	497/1248	A166D	DPS1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000365388		CCDS31168.1			1	
FLT4	0	LGGM	GRCh37	5	180052966	180052966	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	15	3	.	.	ENST00000261937.6:c.1324G>T	p.Ala442Ser	p.A442S	ENST00000261937	NM_182925.4	442	Gcc/Tcc	0	1	1	UPI00001488E7	0	NA	ENST00000261937		ENSG00000037280	3767		18	1.1		HGNC	p.A442S		FLT4		SNV			1				ENST00000393347	protein_coding	getma.org/?cm=var&var=hg19,5,180052966,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,Prints_domain:PR01832,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		A/S		A	low	1403/5857		getma.org/?cm=msa&ty=f&p=VGFR3_HUMAN&rb=421&re=552&var=A442S	deleterious(0.04)	D6RFF2_HUMAN			YES	FLT4,missense_variant,p.Ala442Ser,ENST00000261937,NM_182925.4;FLT4,missense_variant,p.Ala442Ser,ENST00000393347,NM_002020.4;FLT4,missense_variant,p.Ala442Ser,ENST00000502649,;FLT4,non_coding_transcript_exon_variant,,ENST00000424276,;FLT4,downstream_gene_variant,,ENST00000502293,;FLT4,downstream_gene_variant,,ENST00000513527,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;							MODERATE	1324/4092	A442S	VGFR3_HUMAN			Transcript		benign(0.217)	.	ENSP00000261937		CCDS4457.1			1	
COL24A1	0	LGGM	GRCh37	1	86591569	86591569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	31	3	.	.	ENST00000370571.2:c.450G>T	p.Gln150His	p.Q150H	ENST00000370571	NM_152890.5	150	caG/caT	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		34	1.67		HGNC	p.Q150H		COL24A1		SNV							ENST00000426639	protein_coding	getma.org/?cm=var&var=hg19,1,86591569,C,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00210,Superfamily_domains:SSF49899		Q/H		A	low	817/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=114&re=224&var=Q150H	deleterious(0.03)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Gln150His,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Gln150His,ENST00000436319,;COL24A1,downstream_gene_variant,,ENST00000496682,;COL24A1,missense_variant,p.Gln150His,ENST00000426639,;							MODERATE	450/5145	Q150H	COOA1_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000359603		CCDS41353.1			1	
EIF4G1	0	LGGM	GRCh37	3	184035217	184035217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	44	3	.	.	ENST00000424196.1:c.277C>A	p.Gln93Lys	p.Q93K	ENST00000424196		93	Caa/Aaa	0	1		UPI00003671E5	0	NA	ENST00000346169		ENSG00000114867	3296		47	1.525		HGNC	p.Q93K		EIF4G1		SNV			1				ENST00000424196	protein_coding	getma.org/?cm=var&var=hg19,3,184035217,C,A&fts=all		hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10		Q/K		A	low	527/5516		getma.org/?cm=msa&ty=f&p=IF4G1_HUMAN&rb=1&re=200&var=Q86K	deleterious(0.05)	Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN				EIF4G1,missense_variant,p.Gln86Lys,ENST00000342981,NM_182917.4;EIF4G1,missense_variant,p.Gln93Lys,ENST00000424196,;EIF4G1,missense_variant,p.Gln86Lys,ENST00000319274,;EIF4G1,missense_variant,p.Gln46Lys,ENST00000414031,;EIF4G1,missense_variant,p.Gln86Lys,ENST00000346169,NM_198241.2;EIF4G1,missense_variant,p.Gln93Lys,ENST00000382330,NM_001194946.1;EIF4G1,missense_variant,p.Gln93Lys,ENST00000352767,NM_001194947.1;EIF4G1,missense_variant,p.Gln46Lys,ENST00000411531,;EIF4G1,missense_variant,p.Gln93Lys,ENST00000421110,;EIF4G1,missense_variant,p.Gln86Lys,ENST00000450424,;EIF4G1,missense_variant,p.Gln46Lys,ENST00000456033,;EIF4G1,missense_variant,p.Gln86Lys,ENST00000440448,;EIF4G1,missense_variant,p.Gln46Lys,ENST00000455679,;EIF4G1,5_prime_UTR_variant,,ENST00000392537,NM_198244.2;EIF4G1,5_prime_UTR_variant,,ENST00000427845,;EIF4G1,5_prime_UTR_variant,,ENST00000427141,;EIF4G1,intron_variant,,ENST00000350481,NM_198242.2;EIF4G1,intron_variant,,ENST00000426123,;EIF2B5,intron_variant,,ENST00000444495,;EIF4G1,intron_variant,,ENST00000444134,;EIF4G1,upstream_gene_variant,,ENST00000434061,NM_004953.4;EIF4G1,upstream_gene_variant,,ENST00000435046,;EIF4G1,upstream_gene_variant,,ENST00000441154,;EIF4G1,upstream_gene_variant,,ENST00000444861,;EIF4G1,upstream_gene_variant,,ENST00000457456,;EIF4G1,upstream_gene_variant,,ENST00000427607,;EIF4G1,upstream_gene_variant,,ENST00000428387,;EIF4G1,intron_variant,,ENST00000442406,;EIF4G1,intron_variant,,ENST00000413967,;EIF4G1,upstream_gene_variant,,ENST00000484862,;EIF4G1,upstream_gene_variant,,ENST00000493299,;EIF4G1,downstream_gene_variant,,ENST00000485712,;							MODERATE	256/4800	Q86K	IF4G1_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000316879		CCDS3259.1			1	
FHOD1	0	LGGM	GRCh37	16	67272026	67272026	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	31	3	.	.	ENST00000258201.4:c.553G>T	p.Gly185Cys	p.G185C	ENST00000258201	NM_013241.2	185	Ggc/Tgc	0	1	1	UPI000013CFB9	0	getma.org/pdb.php?prot=FHOD1_HUMAN&from=1&to=396&var=G185C	ENST00000258201		ENSG00000135723	17905		34	1.995		HGNC	p.G185C	COSM194370	FHOD1		SNV						1	ENST00000258201	protein_coding	getma.org/?cm=var&var=hg19,16,67272026,C,A&fts=all		Gene3D:1.25.10.10,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF189,Superfamily_domains:SSF48371		G/C		A	medium	801/3990		getma.org/?cm=msa&ty=f&p=FHOD1_HUMAN&rb=1&re=396&var=G185C	deleterious(0)				YES	FHOD1,missense_variant,p.Gly185Cys,ENST00000258201,NM_013241.2;FHOD1,3_prime_UTR_variant,,ENST00000561922,;SLC9A5,non_coding_transcript_exon_variant,,ENST00000564704,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;FHOD1,upstream_gene_variant,,ENST00000569888,;FHOD1,upstream_gene_variant,,ENST00000567509,;FHOD1,upstream_gene_variant,,ENST00000568595,;FHOD1,upstream_gene_variant,,ENST00000562266,;					1		MODERATE	553/3495	G185C	FHOD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258201		CCDS10834.1			1	
VPS13D	0	LGGM	GRCh37	1	12304476	12304476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	45	3	.	.	ENST00000358136.3:c.349C>A	p.Leu117Met	p.L117M	ENST00000358136	NM_015378.2	117	Ctg/Atg	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		48	1.55		HGNC	p.L117M		VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12304476,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF12624		L/M		A	low	479/16318		getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=2&re=118&var=L117M		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Leu117Met,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Leu117Met,ENST00000356315,NM_018156.2;VPS13D,upstream_gene_variant,,ENST00000476169,;							MODERATE	349/13167	L117M				Transcript		probably_damaging(0.986)	.	ENSP00000350854		CCDS30588.1			1	
ZNF536	0	LGGM	GRCh37	19	30934703	30934703	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	22	3	.	.	ENST00000355537.3:c.234C>A	p.Gly78=	p.G78=	ENST00000355537	NM_014717.1	78	ggC/ggA	0	1	1	UPI000006ED3E	0		ENST00000355537		ENSG00000198597	29025		25			HGNC	p.G78G		ZNF536		SNV							ENST00000585628	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5		G		A		381/4945				K7EKT4_HUMAN,K7EJP8_HUMAN			YES	ZNF536,synonymous_variant,p.=,ENST00000355537,NM_014717.1;ZNF536,synonymous_variant,p.=,ENST00000585628,;ZNF536,synonymous_variant,p.=,ENST00000591488,;							LOW	234/3903		ZN536_HUMAN			Transcript			.	ENSP00000347730		CCDS32984.1			1	
MAPK6	0	LGGM	GRCh37	15	52350909	52350909	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	35	3	.	.	ENST00000261845.5:c.780C>A	p.Leu260=	p.L260=	ENST00000261845	NM_002748.3	260	ctC/ctA	0	1	1	UPI000012F177	0		ENST00000261845		ENSG00000069956	6879		38			HGNC	p.L260L		MAPK6		SNV							ENST00000261845	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF171,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01771		L		A		1587/4238							YES	MAPK6,synonymous_variant,p.=,ENST00000261845,NM_002748.3;CTD-2184D3.5,intron_variant,,ENST00000558607,;							LOW	780/2166		MK06_HUMAN			Transcript			.	ENSP00000261845		CCDS10147.1			1	
OBSCN	0	LGGM	GRCh37	1	228474710	228474710	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	9	3	.	.	ENST00000570156.2:c.10801G>T	p.Ala3601Ser	p.A3601S	ENST00000570156	NM_001271223.2	3601	Gcc/Tcc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=3096&to=3180&var=A3172S	ENST00000422127		ENSG00000154358	15719		12	1.195		HGNC	p.A3172S		OBSCN		SNV							ENST00000422127	protein_coding	getma.org/?cm=var&var=hg19,1,228474710,G,T&fts=all		hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		A/S		T	low	9558/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=3096&re=3180&var=A3172S						OBSCN,missense_variant,p.Ala3601Ser,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ala291Ser,ENST00000366707,;OBSCN,missense_variant,p.Ala3172Ser,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ala3172Ser,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Ala291Ser,ENST00000366709,;OBSCN,missense_variant,p.Ala2019Ser,ENST00000359599,;OBSCN,missense_variant,p.Ala448Ser,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;							MODERATE	9514/23907	A3172S	OBSCN_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000409493		CCDS58065.1			1	
TRIM49	0	LGGM	GRCh37	11	89537388	89537388	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	22	3	.	.	ENST00000329758.1:c.250C>A	p.Leu84Ile	p.L84I	ENST00000329758	NM_020358.2	84	Cta/Ata	0	1	1	UPI000013431B	0	NA	ENST00000329758		ENSG00000168930	13431		25	0		HGNC	p.L84I	rs570663427	TRIM49		SNV							ENST00000532501	protein_coding	getma.org/?cm=var&var=hg19,11,89537388,G,T&fts=all	T:0	hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103		L/I		T	neutral	579/2163		getma.org/?cm=msa&ty=f&p=TRI49_HUMAN&rb=58&re=87&var=L84I	tolerated(0.06)	I1YAQ5_HUMAN	T:0	T:0.001	YES	TRIM49,missense_variant,p.Leu84Ile,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Leu84Ile,ENST00000532501,;		T:0.0002					MODERATE	250/1359	L84I	TRI49_HUMAN		T:0	Transcript		benign(0.012)	.	ENSP00000327604		CCDS8287.1		T:0	1	
KIF12	0	LGGM	GRCh37	9	116854855	116854855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	4	3	.	.	ENST00000374118.3:c.1250G>T	p.Cys417Phe	p.C417F	ENST00000374118	NM_138424.1	417	tGc/tTc	0	1	1	UPI00000729C3	0	NA	ENST00000374118		ENSG00000136883	21495		7	0.805		HGNC	p.C550F		KIF12		SNV							ENST00000259410	protein_coding	getma.org/?cm=var&var=hg19,9,116854855,C,A&fts=all		Low_complexity_(Seg):seg		C/F		A	low	1488/2003		getma.org/?cm=msa&ty=f&p=KIF12_HUMAN&rb=455&re=646&var=C550F	tolerated_low_confidence(0.37)	B1ALC3_HUMAN			YES	KIF12,missense_variant,p.Cys417Phe,ENST00000374118,NM_138424.1;KIF12,intron_variant,,ENST00000498016,;KIF12,downstream_gene_variant,,ENST00000473174,;KIF12,downstream_gene_variant,,ENST00000491059,;KIF12,3_prime_UTR_variant,,ENST00000468460,;							MODERATE	1250/1542	C550F	KIF12_HUMAN			Transcript		benign(0.068)	.	ENSP00000363232		CCDS6801.1			1	
DHX37	0	LGGM	GRCh37	12	125437013	125437013	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	5	3	.	.	ENST00000308736.2:c.2799G>T	p.Leu933=	p.L933=	ENST00000308736	NM_032656.3	933	ctG/ctT	0	1	1	UPI00000742DC	0		ENST00000308736		ENSG00000150990	17210		8			HGNC	p.L720L	rs775920696	DHX37		SNV							ENST00000544745	protein_coding			Pfam_domain:PF07717,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99		L		A		2898/4548				Q6IPP7_HUMAN			YES	DHX37,synonymous_variant,p.=,ENST00000308736,NM_032656.3;DHX37,synonymous_variant,p.=,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;DHX37,non_coding_transcript_exon_variant,,ENST00000542400,;DHX37,upstream_gene_variant,,ENST00000507267,;							LOW	2799/3474		DHX37_HUMAN			Transcript			.	ENSP00000311135		CCDS9261.1			1	
MCM9	0	LGGM	GRCh37	6	119137124	119137124	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	43	4	.	.	ENST00000316316.6:c.2295C>G	p.Pro765=	p.P765=	ENST00000316316	NM_017696.2	765	ccC/ccG	0	1	1	UPI0001AE7302	0		ENST00000316316		ENSG00000111877	21484		47			HGNC	p.P384P		MCM9		SNV							ENST00000243218	protein_coding					P		C		2582/5101				D6RHY8_HUMAN,D6RE85_HUMAN			YES	MCM9,synonymous_variant,p.=,ENST00000316316,NM_017696.2;MCM9,downstream_gene_variant,,ENST00000458674,;							LOW	2295/3432		MCM9_HUMAN			Transcript			.	ENSP00000314505		CCDS56447.1			1	
IVD	0	LGGM	GRCh37	15	40698025	40698025	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	9	4	.	.	ENST00000487418.2:c.6A>G	p.Ala2=	p.A2=	ENST00000487418		2	gcA/gcG	0	1	1	UPI0000D4AF3D	0		ENST00000487418		ENSG00000128928	6186		13			HGNC	p.A2A		IVD		SNV			1				ENST00000479013	protein_coding					A		G		30/1809				O43577_HUMAN,J3KR54_HUMAN			YES	IVD,synonymous_variant,p.=,ENST00000479013,NM_001159508.1;IVD,synonymous_variant,p.=,ENST00000487418,;IVD,5_prime_UTR_variant,,ENST00000249760,NM_002225.3;IVD,upstream_gene_variant,,ENST00000473112,;IVD,upstream_gene_variant,,ENST00000558610,;IVD,non_coding_transcript_exon_variant,,ENST00000490194,;IVD,upstream_gene_variant,,ENST00000481262,;IVD,upstream_gene_variant,,ENST00000484250,;							LOW	6/1281					Transcript			.	ENSP00000418397		CCDS10057.2			1	
DST	0	LGGM	GRCh37	6	56480974	56480974	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	77	4	.	.	ENST00000244364.6:c.3319-1692G>T		*1107*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		81			HGNC	p.A2431S		DST		SNV			1				ENST00000370765	protein_coding							A		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Ala2431Ser,ENST00000370765,NM_001723.5;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000520645,;DST,downstream_gene_variant,,ENST00000522360,;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
ECD	0	LGGM	GRCh37	10	74899175	74899175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	61	4	.	.	ENST00000430082.2:c.1412C>A	p.Ser471Tyr	p.S471Y	ENST00000430082	NM_001135752.1	471	tCt/tAt	0	1		UPI000013592B	0	NA	ENST00000372979		ENSG00000122882	17029		65	1.32		HGNC	p.S471Y		ECD		SNV							ENST00000430082	protein_coding	getma.org/?cm=var&var=hg19,10,74899175,G,T&fts=all		Pfam_domain:PF07093,hmmpanther:PTHR13060,Low_complexity_(Seg):seg		S/Y		T	low	1520/3069		getma.org/?cm=msa&ty=f&p=SGT1_HUMAN&rb=13&re=597&var=S438Y	deleterious(0.02)	C9J316_HUMAN				ECD,missense_variant,p.Ser438Tyr,ENST00000372979,NM_007265.2;ECD,missense_variant,p.Ser471Tyr,ENST00000430082,NM_001135752.1;ECD,missense_variant,p.Ser395Tyr,ENST00000454759,NM_001135753.1;ECD,upstream_gene_variant,,ENST00000494307,;ECD,3_prime_UTR_variant,,ENST00000484976,;							MODERATE	1313/1935	S438Y	SGT1_HUMAN			Transcript		possibly_damaging(0.516)	.	ENSP00000362070		CCDS7321.1			1	
MSH2	0	LGGM	GRCh37	2	47656969	47656969	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	60	4	.	.	ENST00000233146.2:c.1165C>A	p.Arg389=	p.R389=	ENST00000233146	NM_000251.2	389	Cga/Aga	0	1	1	UPI00000405F6	0		ENST00000233146		ENSG00000095002	7325		64			HGNC	p.R389R		MSH2		SNV			1				ENST00000406134	protein_coding			hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF35,Pfam_domain:PF05192,Gene3D:1.10.1420.10,SMART_domains:SM00533,PIRSF_domain:PIRSF005813,Superfamily_domains:SSF48334		R		A		1388/3307				Q53RU4_HUMAN,C9J809_HUMAN,B4DL39_HUMAN			YES	MSH2,synonymous_variant,p.=,ENST00000406134,;MSH2,synonymous_variant,p.=,ENST00000233146,NM_000251.2;MSH2,synonymous_variant,p.=,ENST00000543555,NM_001258281.1;							LOW	1165/2805		MSH2_HUMAN			Transcript			.	ENSP00000233146		CCDS1834.1			1	
SRSF4	0	LGGM	GRCh37	1	29481223	29481223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	47	4	.	.	ENST00000373795.4:c.563G>T	p.Ser188Ile	p.S188I	ENST00000373795	NM_005626.4	188	aGc/aTc	0	1	1	UPI00001358BF	0	NA	ENST00000373795		ENSG00000116350	10786		51	1.735		HGNC	p.S188I		SRSF4		SNV							ENST00000373795	protein_coding	getma.org/?cm=var&var=hg19,1,29481223,C,A&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF11,Low_complexity_(Seg):seg		S/I		A	low	798/2387		getma.org/?cm=msa&ty=f&p=SRSF4_HUMAN&rb=180&re=492&var=S188I	deleterious(0)				YES	SRSF4,missense_variant,p.Ser188Ile,ENST00000373795,NM_005626.4;SRSF4,intron_variant,,ENST00000546138,;RP11-242O24.5,downstream_gene_variant,,ENST00000450108,;SRSF4,non_coding_transcript_exon_variant,,ENST00000466448,;SRSF4,non_coding_transcript_exon_variant,,ENST00000497015,;SRSF4,downstream_gene_variant,,ENST00000489898,;SRSF4,downstream_gene_variant,,ENST00000477193,;SRSF4,downstream_gene_variant,,ENST00000605204,;							MODERATE	563/1485	S188I	SRSF4_HUMAN			Transcript		benign(0.403)	.	ENSP00000362900		CCDS333.1			1	
MRPS18A	0	LGGM	GRCh37	6	43643136	43643136	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	36	4	.	.	ENST00000372133.3:c.376+95G>T		*126*	ENST00000372133	NM_018135.3			0	1	1	UPI0000132F33	0		ENST00000372133		ENSG00000096080	14515		40			HGNC	p.V157V		MRPS18A		SNV							ENST00000427312	protein_coding							A		-/1062							YES	MRPS18A,synonymous_variant,p.=,ENST00000427312,;MRPS18A,intron_variant,,ENST00000372133,NM_018135.3;MRPS18A,intron_variant,,ENST00000372116,NM_001193343.1;RSPH9,downstream_gene_variant,,ENST00000372165,NM_001193341.1;RSPH9,downstream_gene_variant,,ENST00000372163,NM_152732.4;							MODIFIER	-/591		RT18A_HUMAN			Transcript			.	ENSP00000361206		CCDS4906.1			1	
RBL2	0	LGGM	GRCh37	16	53514609	53514609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	43	4	.	.	ENST00000262133.6:c.3012C>A	p.Asp1004Glu	p.D1004E	ENST00000262133	NM_005611.3	1004	gaC/gaA	0	1	1	UPI000013D264	0	NA	ENST00000262133		ENSG00000103479	9894		47	2.6		HGNC	p.D1004E		RBL2		SNV							ENST00000262133	protein_coding	getma.org/?cm=var&var=hg19,16,53514609,C,A&fts=all		Gene3D:1.10.472.10,Pfam_domain:PF01857,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Superfamily_domains:SSF47954		D/E		A	medium	3149/4906		getma.org/?cm=msa&ty=f&p=RBL2_HUMAN&rb=834&re=1019&var=D1004E	deleterious(0)	J3KSF7_HUMAN			YES	RBL2,missense_variant,p.Asp1004Glu,ENST00000262133,NM_005611.3;RBL2,intron_variant,,ENST00000544545,;RBL2,non_coding_transcript_exon_variant,,ENST00000379935,;RBL2,non_coding_transcript_exon_variant,,ENST00000564605,;							MODERATE	3012/3420	D1004E	RBL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262133		CCDS10748.1			1	
TMEM184C	0	LGGM	GRCh37	4	148554149	148554149	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	22	4	.	.	ENST00000296582.3:c.875T>C	p.Leu292Pro	p.L292P	ENST00000296582	NM_018241.2	292	cTc/cCc	0	1	1	UPI000013E360	0	NA	ENST00000296582		ENSG00000164168	25587		26	3.275		HGNC	p.L292P		TMEM184C		SNV							ENST00000296582	protein_coding	getma.org/?cm=var&var=hg19,4,148554149,T,C&fts=all		Pfam_domain:PF03619,hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF10,Transmembrane_helices:TMhelix		L/P		C	medium	1449/4178		getma.org/?cm=msa&ty=f&p=T184C_HUMAN&rb=45&re=317&var=L292P	deleterious(0)				YES	TMEM184C,missense_variant,p.Leu292Pro,ENST00000296582,NM_018241.2;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,downstream_gene_variant,,ENST00000322396,NM_138364.2;TMEM184C,3_prime_UTR_variant,,ENST00000505999,;TMEM184C,non_coding_transcript_exon_variant,,ENST00000506826,;							MODERATE	875/1317	L292P	T184C_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000296582		CCDS3770.1			1	
FASN	0	LGGM	GRCh37	17	80041137	80041137	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	20	4	.	.	ENST00000306749.2:c.5506G>C	p.Val1836Leu	p.V1836L	ENST00000306749	NM_004104.4	1836	Gtg/Ctg	0	1	1	UPI000013EB82	0	getma.org/pdb.php?prot=FAS_HUMAN&from=1817&to=1884&var=V1836L	ENST00000306749		ENSG00000169710	3594		24	1.845		HGNC	p.V1836L		FASN		SNV							ENST00000306749	protein_coding	getma.org/?cm=var&var=hg19,17,80041137,C,G&fts=all		hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,SMART_domains:SM00829		V/L		G	low	5725/8560		getma.org/?cm=msa&ty=f&p=FAS_HUMAN&rb=1817&re=1884&var=V1836L	tolerated(0.2)				YES	FASN,missense_variant,p.Val1836Leu,ENST00000306749,NM_004104.4;FASN,non_coding_transcript_exon_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000584610,;FASN,upstream_gene_variant,,ENST00000578424,;FASN,upstream_gene_variant,,ENST00000580382,;FASN,downstream_gene_variant,,ENST00000579410,;							MODERATE	5506/7536	V1836L	FAS_HUMAN			Transcript		benign(0.011)	.	ENSP00000304592		CCDS11801.1			1	
DIP2C	0	LGGM	GRCh37	10	375483	375483	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	6	4	.	.	ENST00000280886.6:c.3643G>T	p.Ala1215Ser	p.A1215S	ENST00000280886	NM_014974.2	1215	Gcc/Tcc	0	1	1	UPI00001833B9	0	getma.org/pdb.php?prot=DIP2C_HUMAN&from=1003&to=1475&var=A1215S	ENST00000280886		ENSG00000151240	29150		10	0.06		HGNC	p.A1215S	COSM368460	DIP2C		SNV						1	ENST00000280886	protein_coding	getma.org/?cm=var&var=hg19,10,375483,C,A&fts=all		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801		A/S		A	neutral	3731/7894		getma.org/?cm=msa&ty=f&p=DIP2C_HUMAN&rb=1003&re=1475&var=A1215S	tolerated(0.98)				YES	DIP2C,missense_variant,p.Ala1215Ser,ENST00000280886,NM_014974.2;DIP2C,upstream_gene_variant,,ENST00000434695,;					1		MODERATE	3643/4671	A1215S	DIP2C_HUMAN			Transcript		benign(0.084)	.	ENSP00000280886		CCDS7054.1			1	
SCARB1	0	LGGM	GRCh37	12	125302121	125302121	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	9	4	.	.	ENST00000261693.6:c.259C>T	p.Arg87Trp	p.R87W	ENST00000261693	NM_005505.4	87	Cgg/Tgg	0	1		UPI000006E977	0	NA	ENST00000415380		ENSG00000073060	1664		13	2.24		HGNC	p.R87W		SCARB1		SNV			1				ENST00000415380	protein_coding	getma.org/?cm=var&var=hg19,12,125302121,G,A&fts=all		hmmpanther:PTHR11923,hmmpanther:PTHR11923:SF49,Pfam_domain:PF01130,Prints_domain:PR01609,Prints_domain:PR01610		R/W		A	medium	385/2731		getma.org/?cm=msa&ty=f&p=SCRB1_HUMAN&rb=14&re=465&var=R87W	tolerated(0.09)					SCARB1,missense_variant,p.Arg87Trp,ENST00000339570,NM_001082959.1;SCARB1,missense_variant,p.Arg87Trp,ENST00000415380,;SCARB1,missense_variant,p.Arg87Trp,ENST00000261693,NM_005505.4;SCARB1,missense_variant,p.Arg46Trp,ENST00000541205,;SCARB1,missense_variant,p.Arg50Trp,ENST00000540495,;SCARB1,missense_variant,p.Arg33Trp,ENST00000544327,;SCARB1,missense_variant,p.Arg87Trp,ENST00000546215,;SCARB1,missense_variant,p.Arg87Trp,ENST00000545493,;SCARB1,intron_variant,,ENST00000376788,;SCARB1,non_coding_transcript_exon_variant,,ENST00000535005,;SCARB1,non_coding_transcript_exon_variant,,ENST00000539320,;SCARB1,non_coding_transcript_exon_variant,,ENST00000541661,;SCARB1,non_coding_transcript_exon_variant,,ENST00000538291,;							MODERATE	259/1659	R87W	SCRB1_HUMAN			Transcript		benign(0.022)	.	ENSP00000414979					1	
PTHLH	0	LGGM	GRCh37	12	28116696	28116696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	51	4	.	.	ENST00000395872.1:c.109G>T	p.Ala37Ser	p.A37S	ENST00000395872	NM_198965.1	37	Gct/Tct	0	1	1	UPI0000047E25	0	getma.org/pdb.php?prot=PTHR_HUMAN&from=34&to=130&var=A37S	ENST00000395872		ENSG00000087494	9607		55	0.205		HGNC	p.A37S		PTHLH		SNV			1				ENST00000201015	protein_coding	getma.org/?cm=var&var=hg19,12,28116696,C,A&fts=all		hmmpanther:PTHR17223:SF0,hmmpanther:PTHR17223,Pfam_domain:PF01279,SMART_domains:SM00087		A/S		A	neutral	418/1318		getma.org/?cm=msa&ty=f&p=PTHR_HUMAN&rb=34&re=130&var=A37S	tolerated(0.86)	Q53XY9_HUMAN,F5GZD9_HUMAN			YES	PTHLH,missense_variant,p.Ala37Ser,ENST00000535992,;PTHLH,missense_variant,p.Ala37Ser,ENST00000201015,NM_002820.2;PTHLH,missense_variant,p.Ala37Ser,ENST00000395868,NM_198964.1;PTHLH,missense_variant,p.Ala37Ser,ENST00000395872,NM_198965.1;PTHLH,missense_variant,p.Ala37Ser,ENST00000545234,;PTHLH,missense_variant,p.Ala37Ser,ENST00000354417,;PTHLH,missense_variant,p.Ala37Ser,ENST00000539239,;PTHLH,missense_variant,p.Ala37Ser,ENST00000538310,;PTHLH,missense_variant,p.Ala37Ser,ENST00000542963,;PTHLH,missense_variant,p.Ala45Ser,ENST00000534890,;RP11-993B23.3,intron_variant,,ENST00000538113,;							MODERATE	109/534	A37S	PTHR_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000379213		CCDS44853.1			1	
LILRB3	0	LGGM	GRCh37	19	54721314	54721314	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	31	4	.	.	ENST00000245620.9:c.1626G>A	p.Val542=	p.V542=	ENST00000245620		542	gtG/gtA	0	1	1	UPI0000E04BFA	0		ENST00000245620		ENSG00000204577	6607		35			HGNC	p.V541V		LILRB3		SNV							ENST00000391750	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32		V		T		1628/2066				C9JWL8_HUMAN			YES	LILRB3,synonymous_variant,p.=,ENST00000391750,;LILRB3,synonymous_variant,p.=,ENST00000424807,NM_006864.2,NM_001081450.1;LILRB3,synonymous_variant,p.=,ENST00000346401,;LILRA6,synonymous_variant,p.=,ENST00000440558,;LILRB3,synonymous_variant,p.=,ENST00000407860,;LILRA6,synonymous_variant,p.=,ENST00000419410,;LILRB3,synonymous_variant,p.=,ENST00000245620,;LILRA6,synonymous_variant,p.=,ENST00000270464,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRB3,downstream_gene_variant,,ENST00000445347,;LILRB3,non_coding_transcript_exon_variant,,ENST00000469273,;LILRB3,3_prime_UTR_variant,,ENST00000414379,;LILRB3,non_coding_transcript_exon_variant,,ENST00000460208,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,downstream_gene_variant,,ENST00000436504,;							LOW	1626/1899		LIRB3_HUMAN			Transcript			.	ENSP00000245620		CCDS46175.1			1	
VSTM2L	0	LGGM	GRCh37	20	36560168	36560168	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	44	4	.	.	ENST00000373461.4:c.253C>A	p.Arg85=	p.R85=	ENST00000373461	NM_080607.2	85	Cgg/Agg	0	1	1	UPI0000128674	0		ENST00000373461		ENSG00000132821	16096		48			HGNC	p.R85R		VSTM2L		SNV							ENST00000373458	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR10075:SF7,hmmpanther:PTHR10075,PROSITE_profiles:PS50835		R		A		500/1959							YES	VSTM2L,synonymous_variant,p.=,ENST00000373461,NM_080607.2;VSTM2L,synonymous_variant,p.=,ENST00000373458,;VSTM2L,synonymous_variant,p.=,ENST00000448944,;VSTM2L,intron_variant,,ENST00000373459,;							LOW	253/615		VTM2L_HUMAN			Transcript			.	ENSP00000362560		CCDS13299.1			1	
CCDC92	0	LGGM	GRCh37	12	124421796	124421796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	11	4	.	.	ENST00000238156.3:c.805G>A	p.Ala269Thr	p.A269T	ENST00000238156	NM_025140.1	269	Gcc/Acc	0	1	1	UPI000006FF96	0	NA	ENST00000238156		ENSG00000119242	29563		15	0.895		HGNC	p.A252T	rs367836688	CCDC92	0.00049	SNV	T:0			0.000222			ENST00000545891	protein_coding	getma.org/?cm=var&var=hg19,12,124421796,C,T&fts=all		hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF4		A/T	T:0.0002	T	low	1160/2000	0.000438	getma.org/?cm=msa&ty=f&p=CCD92_HUMAN&rb=201&re=331&var=A269T	tolerated_low_confidence(0.08)	F5H7P8_HUMAN,F5H2Z7_HUMAN,F5H285_HUMAN,B3KNQ0_HUMAN			YES	CCDC92,missense_variant,p.Ala252Thr,ENST00000545135,;CCDC92,missense_variant,p.Ala269Thr,ENST00000238156,NM_025140.1;CCDC92,missense_variant,p.Ala252Thr,ENST00000545891,;DNAH10,downstream_gene_variant,,ENST00000409039,NM_207437.3;DNAH10OS,upstream_gene_variant,,ENST00000514254,;CCDC92,downstream_gene_variant,,ENST00000539551,;CCDC92,downstream_gene_variant,,ENST00000539761,;CCDC92,downstream_gene_variant,,ENST00000535556,;RP11-380L11.3,upstream_gene_variant,,ENST00000602292,;CCDC92,intron_variant,,ENST00000544798,;CCDC92,intron_variant,,ENST00000542348,;DNAH10,downstream_gene_variant,,ENST00000538983,;DNAH10,downstream_gene_variant,,ENST00000492261,;							MODERATE	805/996	A269T	CCD92_HUMAN	0.000306		Transcript		benign(0.037)	common_variant	ENSP00000238156	0.000346	CCDS9256.1	0.00116		1	
TAF1L	0	LGGM	GRCh37	9	32631040	32631040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	82	5	.	.	ENST00000242310.4:c.4538C>A	p.Ala1513Asp	p.A1513D	ENST00000242310	NM_153809.2	1513	gCt/gAt	0	1	1	UPI000007408A	0	getma.org/pdb.php?prot=TAF1L_HUMAN&from=1492&to=1527&var=A1513D	ENST00000242310		ENSG00000122728	18056		87	2.28		HGNC	p.A1513D		TAF1L		SNV							ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32631040,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047		A/D		T	medium	4628/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1492&re=1527&var=A1513D	deleterious(0.03)				YES	TAF1L,missense_variant,p.Ala1513Asp,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							MODERATE	4538/5481	A1513D	TAF1L_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000418379		CCDS35003.1			1	
EPHB2	0	LGGM	GRCh37	1	23191382	23191382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	10	5	.	.	ENST00000374632.3:c.980C>T	p.Ala327Val	p.A327V	ENST00000374632		327	gCg/gTg	0	1		UPI0000033EC3	0	getma.org/pdb.php?prot=EPHB2_HUMAN&from=326&to=421&var=A327V	ENST00000400191		ENSG00000133216	3393		15	2.94		HGNC	p.A327V	rs764789610,COSM244289	EPHB2	0.000512	SNV			1			0,1	ENST00000400191	protein_coding	getma.org/?cm=var&var=hg19,1,23191382,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/V		T	medium	998/4641	3.30E-05	getma.org/?cm=msa&ty=f&p=EPHB2_HUMAN&rb=326&re=421&var=A327V	deleterious(0.01)					EPHB2,missense_variant,p.Ala327Val,ENST00000400191,NM_004442.6,NM_017449.3;EPHB2,missense_variant,p.Ala321Val,ENST00000374627,;EPHB2,missense_variant,p.Ala327Val,ENST00000374632,;EPHB2,missense_variant,p.Ala327Val,ENST00000374630,;EPHB2,missense_variant,p.Ala327Val,ENST00000544305,;MIR4253,upstream_gene_variant,,ENST00000581187,;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,;EPHB2,upstream_gene_variant,,ENST00000490436,;					0,1		MODERATE	980/3168	A327V	EPHB2_HUMAN			Transcript		probably_damaging(0.909)	common_variant	ENSP00000383053	6.60E-05				1	
MED16	0	LGGM	GRCh37	19	875248	875248	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	19	5	.	.	ENST00000325464.1:c.1767C>T	p.Asp589=	p.D589=	ENST00000325464	NM_005481.2	589	gaC/gaT	0	1	1	UPI0000141671	0		ENST00000325464		ENSG00000175221	17556	8.70E-05	24			HGNC	p.D589D	rs771555441	MED16	6.26E-05	SNV							ENST00000269814	protein_coding			hmmpanther:PTHR13224:SF6,hmmpanther:PTHR13224,Pfam_domain:PF11635		D		A		1918/2922	6.19E-05			K7EKX6_HUMAN,B9TX09_HUMAN			YES	MED16,synonymous_variant,p.=,ENST00000312090,;MED16,synonymous_variant,p.=,ENST00000395808,;MED16,synonymous_variant,p.=,ENST00000325464,NM_005481.2;MED16,synonymous_variant,p.=,ENST00000269814,;MED16,synonymous_variant,p.=,ENST00000589119,;MED16,synonymous_variant,p.=,ENST00000607471,;MED16,synonymous_variant,p.=,ENST00000592943,;MED16,synonymous_variant,p.=,ENST00000586017,;MED16,non_coding_transcript_exon_variant,,ENST00000606828,;MED16,synonymous_variant,p.=,ENST00000606248,;							LOW	1767/2634		MED16_HUMAN			Transcript			.	ENSP00000325612	4.95E-05	CCDS12047.1			1	
GHRHR	0	LGGM	GRCh37	7	31015451	31015451	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	37	5	.	.	ENST00000326139.2:c.942T>A	p.Ala314=	p.A314=	ENST00000326139	NM_000823.3	314	gcT/gcA	0	1	1	UPI0000061EE1	0		ENST00000326139		ENSG00000106128	4266		42			HGNC	p.S81T		GHRHR		SNV			1				ENST00000409316	protein_coding			Pfam_domain:PF00002,Prints_domain:PR01352,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF209,Superfamily_domains:SSF81321		A		A		988/1602				P78471_HUMAN,P78470_HUMAN			YES	GHRHR,missense_variant,p.Ser81Thr,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,;							LOW	942/1272		GHRHR_HUMAN			Transcript			.	ENSP00000320180		CCDS5432.1			1	
HNRNPU	0	LGGM	GRCh37	1	245027284	245027284	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	14	5	.	.	ENST00000283179.9:c.326A>T	p.Glu109Val	p.E109V	ENST00000283179		109	gAg/gTg	0	1	1	UPI000040E1C8	0	NA	ENST00000283179		ENSG00000153187	5048		19	1.32		HGNC	p.E109V		HNRNPU		SNV			1				ENST00000444376	protein_coding	getma.org/?cm=var&var=hg19,1,245027284,T,A&fts=all		hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF11,Low_complexity_(Seg):seg		E/V		A	low	490/3704		getma.org/?cm=msa&ty=f&p=HNRPU_HUMAN&rb=100&re=299&var=E109V	tolerated(0.07)	Q9UEL2_HUMAN,Q96BA7_HUMAN,Q7Z4Q5_HUMAN			YES	HNRNPU,missense_variant,p.Glu109Val,ENST00000444376,NM_004501.3,NM_031844.2;HNRNPU,missense_variant,p.Glu109Val,ENST00000283179,;HNRNPU,upstream_gene_variant,,ENST00000440865,;RP11-11N7.4,upstream_gene_variant,,ENST00000610145,;HNRNPU,non_coding_transcript_exon_variant,,ENST00000476241,;HNRNPU,upstream_gene_variant,,ENST00000366525,;HNRNPU,upstream_gene_variant,,ENST00000483966,;HNRNPU,upstream_gene_variant,,ENST00000465881,;							MODERATE	326/2478	E109V	HNRPU_HUMAN			Transcript		benign(0.403)	.	ENSP00000283179		CCDS41479.1			1	
CCDC88A	0	LGGM	GRCh37	2	55571533	55571533	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	41	5	.	.	ENST00000336838.6:c.1159C>G	p.Leu387Val	p.L387V	ENST00000336838		387	Ctg/Gtg	0	1		UPI000150AEEC	0	NA	ENST00000436346		ENSG00000115355	25523		46	2.34		HGNC	p.L387V		CCDC88A		SNV							ENST00000436346	protein_coding	getma.org/?cm=var&var=hg19,2,55571533,G,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30		L/V		C	medium	2001/9811		getma.org/?cm=msa&ty=f&p=GRDN_HUMAN&rb=10&re=590&var=L387V	deleterious(0)	C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,missense_variant,p.Leu387Val,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,missense_variant,p.Leu387Val,ENST00000263630,NM_018084.4;CCDC88A,missense_variant,p.Leu387Val,ENST00000336838,;CCDC88A,missense_variant,p.Leu387Val,ENST00000413716,;AC012358.8,intron_variant,,ENST00000594078,;AC012358.8,downstream_gene_variant,,ENST00000599475,;AC012358.8,downstream_gene_variant,,ENST00000600219,;AC012358.8,downstream_gene_variant,,ENST00000599352,;AC012358.8,downstream_gene_variant,,ENST00000608103,;							MODERATE	1159/5616	L387V	GRDN_HUMAN			Transcript		possibly_damaging(0.513)	.	ENSP00000410608					1	
MEP1A	0	LGGM	GRCh37	6	46761452	46761452	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	25	6	.	.	ENST00000230588.4:c.144A>T	p.Leu48Phe	p.L48F	ENST00000230588	NM_005588.2	48	ttA/ttT	0	1	1	UPI000006E4E9	0	NA	ENST00000230588		ENSG00000112818	7015		31	1.975		HGNC	p.L48F		MEP1A		SNV							ENST00000230588	protein_coding	getma.org/?cm=var&var=hg19,6,46761452,A,T&fts=all		PIRSF_domain:PIRSF001196,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311		L/F		T	medium	153/2892		getma.org/?cm=msa&ty=f&p=MEP1A_HUMAN&rb=1&re=72&var=L48F	tolerated(0.07)				YES	MEP1A,missense_variant,p.Leu48Phe,ENST00000230588,NM_005588.2;							MODERATE	144/2241	L48F	MEP1A_HUMAN			Transcript		benign(0.021)	.	ENSP00000230588		CCDS4918.1			1	
HDAC6	0	LGGM	GRCh37	X	48663917	48663917	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	8	6	.	.	ENST00000334136.5:c.384C>T	p.Cys128=	p.C128=	ENST00000334136		128	tgC/tgT	0	1	1	UPI0000073E04	0		ENST00000334136		ENSG00000094631	14064		14			HGNC	p.C128C	rs782515550	HDAC6	0.000133	SNV			1				ENST00000423941	protein_coding			Pfam_domain:PF00850,Gene3D:3.40.800.20,Superfamily_domains:SSF52768		C		T		562/4190	2.59E-05			E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN			YES	HDAC6,synonymous_variant,p.=,ENST00000334136,;HDAC6,synonymous_variant,p.=,ENST00000376619,NM_006044.2;HDAC6,synonymous_variant,p.=,ENST00000444343,;HDAC6,synonymous_variant,p.=,ENST00000413163,;HDAC6,synonymous_variant,p.=,ENST00000376643,;HDAC6,synonymous_variant,p.=,ENST00000426196,;HDAC6,synonymous_variant,p.=,ENST00000376610,;HDAC6,synonymous_variant,p.=,ENST00000440653,;HDAC6,synonymous_variant,p.=,ENST00000441703,;HDAC6,synonymous_variant,p.=,ENST00000423941,;HDAC6,synonymous_variant,p.=,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,downstream_gene_variant,,ENST00000493923,;HDAC6,upstream_gene_variant,,ENST00000461608,;							LOW	384/3648		HDAC6_HUMAN			Transcript			.	ENSP00000334061	2.47E-05	CCDS14306.1			1	
TOE1	0	LGGM	GRCh37	1	45808527	45808527	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	9	6	.	.	ENST00000372090.5:c.765T>C	p.Asn255=	p.N255=	ENST00000372090	NM_025077.3	255	aaT/aaC	0	1	1	UPI00000382DE	0		ENST00000372090		ENSG00000132773	15954	0.000174	15			HGNC	p.N175N	rs748027804	TOE1		SNV							ENST00000539779	protein_coding			Pfam_domain:PF04857,hmmpanther:PTHR15092,hmmpanther:PTHR15092:SF24,Superfamily_domains:SSF53098		N		C		1348/2389				B3KSC7_HUMAN			YES	TOE1,synonymous_variant,p.=,ENST00000372090,NM_025077.3;TOE1,synonymous_variant,p.=,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,,ENST00000460057,;TESK2,downstream_gene_variant,,ENST00000486676,;TOE1,downstream_gene_variant,,ENST00000477731,;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,;							LOW	765/1533		TOE1_HUMAN			Transcript			.	ENSP00000361162	1.65E-05	CCDS521.1			1	
DNAH1	0	LGGM	GRCh37	3	52415804	52415804	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	8	6	.	.	ENST00000420323.2:c.7757G>T	p.Gly2586Val	p.G2586V	ENST00000420323	NM_015512.4	2586	gGc/gTc	0	1	1	UPI0001AE79D6	0	getma.org/pdb.php?prot=DYH1_HUMAN&from=2548&to=2818&var=G2586V	ENST00000420323		ENSG00000114841	2940		14	4.56		HGNC	p.G2586V		DNAH1		SNV			1				ENST00000420323	protein_coding	getma.org/?cm=var&var=hg19,3,52415804,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137,Low_complexity_(Seg):seg,Superfamily_domains:SSF52540		G/V		T	high	8018/13104		getma.org/?cm=msa&ty=f&p=DYH1_HUMAN&rb=2548&re=2818&var=G2586V					YES	DNAH1,missense_variant,p.Gly2586Val,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,upstream_gene_variant,,ENST00000488988,;							MODERATE	7757/12798	G2586V	DYH1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401514		CCDS46842.1			1	
CCDC37	0	LGGM	GRCh37	3	126153203	126153203	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	18	6	.	.	ENST00000352312.1:c.1607A>C	p.Lys536Thr	p.K536T	ENST00000352312	NM_182628.2	536	aAg/aCg	0	1	1	UPI000013E315	0	NA	ENST00000352312		ENSG00000163885	26842		24	2.725		HGNC	p.K536T		CCDC37		SNV							ENST00000352312	protein_coding	getma.org/?cm=var&var=hg19,3,126153203,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21683,hmmpanther:PTHR21683:SF5,Low_complexity_(Seg):seg		K/T		C	medium	1706/2086		getma.org/?cm=msa&ty=f&p=CCD37_HUMAN&rb=481&re=611&var=K536T	deleterious(0)				YES	CCDC37,missense_variant,p.Lys537Thr,ENST00000393425,;CCDC37,missense_variant,p.Lys536Thr,ENST00000352312,NM_182628.2;CCDC37,missense_variant,p.Lys537Thr,ENST00000505024,;ZXDC,downstream_gene_variant,,ENST00000389709,NM_025112.4;CCDC37,non_coding_transcript_exon_variant,,ENST00000506204,;ZXDC,downstream_gene_variant,,ENST00000514463,;ZXDC,downstream_gene_variant,,ENST00000515545,;							MODERATE	1607/1836	K536T	CCD37_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000344749		CCDS3037.1			1	
RP11-383H13.1	0	LGGM	GRCh37	8	72755872	72755872	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	16	6	.	.	ENST00000537896.1:c.236G>C	p.Arg79Pro	p.R79P	ENST00000537896		79	cGc/cCc	0	1	1	UPI000191533B	0		ENST00000537896		ENSG00000235531			22			Clone_based_vega_gene	p.R79P		RP11-383H13.1		SNV							ENST00000537896	protein_coding					R/P		C		506/1528				B7Z945_HUMAN			YES	RP11-383H13.1,missense_variant,p.Arg79Pro,ENST00000537896,;MSC,splice_region_variant,,ENST00000325509,NM_005098.3;RP11-383H13.1,5_prime_UTR_variant,,ENST00000524152,;RP11-383H13.1,intron_variant,,ENST00000521467,;RP11-383H13.1,upstream_gene_variant,,ENST00000457356,;RP11-383H13.1,upstream_gene_variant,,ENST00000518916,;RP11-383H13.1,upstream_gene_variant,,ENST00000519751,;MSC,upstream_gene_variant,,ENST00000518440,;MSC,upstream_gene_variant,,ENST00000521739,;RP11-383H13.1,synonymous_variant,p.=,ENST00000522519,;							MODERATE	236/549					Transcript		unknown(0)	.	ENSP00000440866					1	
VEPH1	0	LGGM	GRCh37	3	157034948	157034948	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	46	6	.	.	ENST00000362010.2:c.1778C>A	p.Ser593Tyr	p.S593Y	ENST00000362010	NM_001167912.1	593	tCc/tAc	0	1	1	UPI000013F6EE	0	NA	ENST00000362010		ENSG00000197415	25735		52	0.69		HGNC	p.S593Y		VEPH1		SNV							ENST00000362010	protein_coding	getma.org/?cm=var&var=hg19,3,157034948,G,T&fts=all		hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9		S/Y		T	neutral	2086/4202		getma.org/?cm=msa&ty=f&p=MELT_HUMAN&rb=578&re=716&var=S593Y	deleterious(0)	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN			YES	VEPH1,missense_variant,p.Ser593Tyr,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Ser593Tyr,ENST00000543418,NM_024621.2;VEPH1,missense_variant,p.Ser593Tyr,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Ser593Tyr,ENST00000392832,;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,downstream_gene_variant,,ENST00000494885,;RP11-550I24.2,downstream_gene_variant,,ENST00000475102,;							MODERATE	1778/2502	S593Y	MELT_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000354919		CCDS3179.1			1	
ADPRM	0	LGGM	GRCh37	17	10614316	10614316	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	38	6	.	.	ENST00000379774.4:c.884A>G	p.Asn295Ser	p.N295S	ENST00000379774	NM_020233.4	295	aAc/aGc	0	1	1	UPI000040A94B	0	getma.org/pdb.php?prot=ADPRM_HUMAN&from=283&to=342&var=N295S	ENST00000379774		ENSG00000170222	30925		44	0.935		HGNC	p.N295S	rs748430883	ADPRM		SNV				0.000192			ENST00000379774	protein_coding	getma.org/?cm=var&var=hg19,17,10614316,A,G&fts=all		Superfamily_domains:SSF56300,Gene3D:3.60.21.10,hmmpanther:PTHR16509:SF1,hmmpanther:PTHR16509		N/S		G	low	975/1209		getma.org/?cm=msa&ty=f&p=ADPRM_HUMAN&rb=283&re=342&var=N295S	tolerated(0.07)				YES	ADPRM,missense_variant,p.Asn295Ser,ENST00000379774,NM_020233.4;ADPRM,missense_variant,p.Thr294Ala,ENST00000609540,;TMEM220,intron_variant,,ENST00000580787,;TMEM220,downstream_gene_variant,,ENST00000341871,NM_001004313.1;TMEM220,downstream_gene_variant,,ENST00000455996,;TMEM220,downstream_gene_variant,,ENST00000578345,;TMEM220,downstream_gene_variant,,ENST00000581949,;TMEM220,downstream_gene_variant,,ENST00000580186,;ADPRM,3_prime_UTR_variant,,ENST00000468843,;	0.000578						MODERATE	884/1029	N295S	ADPRM_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000369099	5.77E-05	CCDS11159.2			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	32	6	.	.	ENST00000349496.5:c.94G>C	p.Asp32His	p.D32H	ENST00000349496	NM_001904.3	32	Gac/Cac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32H	ENST00000349496	pathogenic	ENSG00000168036	2514		38	2.46		HGNC	p.D32H	rs28931588,COSM5668	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/H		C	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32H	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32His,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32His,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32His,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25His,ENST00000453024,;CTNNB1,missense_variant,p.Asp32His,ENST00000405570,;CTNNB1,missense_variant,p.Asp32His,ENST00000450969,;CTNNB1,missense_variant,p.Asp32His,ENST00000431914,;CTNNB1,missense_variant,p.Asp32His,ENST00000441708,;CTNNB1,missense_variant,p.Asp25His,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32H	CTNB1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000344456		CCDS2694.1			1	19635198
SLC41A3	0	LGGM	GRCh37	3	125786921	125786921	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	37	7	.	.	ENST00000315891.6:c.142G>A	p.Val48Met	p.V48M	ENST00000315891	NM_017836.3	48	Gtg/Atg	0	1	1	UPI000013D523	0	NA	ENST00000315891		ENSG00000114544	31046	8.65E-05	44	0.895		HGNC	p.V48M	rs536800394	SLC41A3		SNV							ENST00000346785	protein_coding	getma.org/?cm=var&var=hg19,3,125786921,C,T&fts=all	T:0	hmmpanther:PTHR16228:SF22,hmmpanther:PTHR16228		V/M		T	low	381/1797		getma.org/?cm=msa&ty=f&p=S41A3_HUMAN&rb=1&re=104&var=V48M	tolerated(0.09)	D6RF72_HUMAN,D6R9S7_HUMAN,D6R925_HUMAN	T:0	T:0.001	YES	SLC41A3,missense_variant,p.Val48Met,ENST00000360370,;SLC41A3,missense_variant,p.Val48Met,ENST00000315891,NM_017836.3,NM_001008485.1;SLC41A3,missense_variant,p.Val48Met,ENST00000346785,NM_001008486.1;SLC41A3,missense_variant,p.Val48Met,ENST00000514677,;SLC41A3,missense_variant,p.Val48Met,ENST00000513723,;SLC41A3,missense_variant,p.Val48Met,ENST00000512470,;SLC41A3,missense_variant,p.Val48Met,ENST00000514333,;SLC41A3,missense_variant,p.Val48Met,ENST00000510651,;SLC41A3,missense_variant,p.Val48Met,ENST00000509064,;SLC41A3,missense_variant,p.Val48Met,ENST00000507280,;SLC41A3,missense_variant,p.Val48Met,ENST00000514891,;SLC41A3,missense_variant,p.Val48Met,ENST00000504035,;SLC41A3,missense_variant,p.Val48Met,ENST00000509452,;SLC41A3,intron_variant,,ENST00000508835,NM_001164475.1;AC117422.1,upstream_gene_variant,,ENST00000581281,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000514023,;SLC41A3,missense_variant,p.Val48Met,ENST00000505996,;SLC41A3,non_coding_transcript_exon_variant,,ENST00000513464,;SLC41A3,intron_variant,,ENST00000507008,;	0.000813	T:0.0002					MODERATE	142/1524	V48M	S41A3_HUMAN		T:0	Transcript		benign(0.008)	common_variant	ENSP00000326070	6.59E-05	CCDS33843.1		T:0	1	
GALNT14	0	LGGM	GRCh37	2	31168707	31168707	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	11	7	.	.	ENST00000324589.5:c.699C>A	p.Ile233=	p.I233=	ENST00000324589	NM_001253826.1	233	atC/atA	0	1		UPI000000D723	0		ENST00000349752		ENSG00000158089	22946		18			HGNC	p.I208I		GALNT14		SNV							ENST00000406653	protein_coding			Gene3D:3.90.550.10,Pfam_domain:PF00535,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448		I		T		1324/2733								GALNT14,synonymous_variant,p.=,ENST00000349752,NM_024572.3;GALNT14,synonymous_variant,p.=,ENST00000406653,NM_001253827.1;GALNT14,synonymous_variant,p.=,ENST00000324589,NM_001253826.1;GALNT14,synonymous_variant,p.=,ENST00000356174,;GALNT14,synonymous_variant,p.=,ENST00000420311,;GALNT14,synonymous_variant,p.=,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,;							LOW	684/1659		GLT14_HUMAN			Transcript			.	ENSP00000288988		CCDS1773.2			1	
CCDC88B	0	LGGM	GRCh37	11	64120919	64120919	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	1	7	.	.	ENST00000356786.5:c.3784C>T	p.Arg1262Cys	p.R1262C	ENST00000356786	NM_032251.5	1262	Cgc/Tgc	0	1	1	UPI00001FAAA6	0	NA	ENST00000356786		ENSG00000168071	26757		8	0.695		HGNC	p.R1262C		CCDC88B		SNV							ENST00000356786	protein_coding	getma.org/?cm=var&var=hg19,11,64120919,C,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18947:SF29,hmmpanther:PTHR18947		R/C		T	neutral	3828/4915		getma.org/?cm=msa&ty=f&p=CC88B_HUMAN&rb=1227&re=1278&var=R1262C	deleterious(0)				YES	CCDC88B,missense_variant,p.Arg1262Cys,ENST00000356786,NM_032251.5;CCDC88B,missense_variant,p.Arg414Cys,ENST00000359902,;CCDC88B,5_prime_UTR_variant,,ENST00000301897,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000463837,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000494080,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000479965,;CCDC88B,non_coding_transcript_exon_variant,,ENST00000473405,;CCDC88B,downstream_gene_variant,,ENST00000494566,;CCDC88B,downstream_gene_variant,,ENST00000492980,;CCDC88B,upstream_gene_variant,,ENST00000472524,;							MODERATE	3784/4431	R1262C	CC88B_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000349238		CCDS8072.2			1	
SRL	0	LGGM	GRCh37	16	4242960	4242960	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	14	7	.	.	ENST00000399609.3:c.616C>A	p.Pro206Thr	p.P206T	ENST00000399609	NM_001098814.1	206	Ccc/Acc	0	1	1	UPI00006688CC	0	getma.org/pdb.php?prot=SRCA_HUMAN&from=555&to=716&var=P665T	ENST00000399609		ENSG00000185739	11295		21	0.785		HGNC	p.P164T		SRL		SNV							ENST00000537996	protein_coding	getma.org/?cm=var&var=hg19,16,4242960,G,T&fts=all		PROSITE_profiles:PS51718,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF66,Pfam_domain:PF00350,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		P/T		T	neutral	629/4214		getma.org/?cm=msa&ty=f&p=SRCA_HUMAN&rb=555&re=716&var=P665T	deleterious(0)	B4DYT9_HUMAN			YES	SRL,missense_variant,p.Pro206Thr,ENST00000399609,NM_001098814.1;SRL,missense_variant,p.Pro164Thr,ENST00000537996,;SRL,3_prime_UTR_variant,,ENST00000572111,;							MODERATE	616/1422	P665T	SRCA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000382518		CCDS42113.1			1	
SBF2	0	LGGM	GRCh37	11	9830474	9830474	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	36	8	.	.	ENST00000256190.8:c.4231G>T	p.Glu1411Ter	p.E1411*	ENST00000256190	NM_030962.3	1411	Gag/Tag	0	1	1	UPI00000622D5	0	NA	ENST00000256190		ENSG00000133812	2135		44	0		HGNC	p.E1411X		SBF2		SNV			1				ENST00000256190	protein_coding	getma.org/?cm=var&var=hg19,11,9830474,C,A&fts=all		Superfamily_domains:SSF52799,Pfam_domain:PF06602,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF4,PROSITE_profiles:PS51339		E/*		A	NA	4369/7439		NA		H0YDZ1_HUMAN			YES	SBF2,stop_gained,p.Glu1411Ter,ENST00000256190,NM_030962.3;SBF2,stop_gained,p.Glu327Ter,ENST00000530741,;SBF2-AS1,non_coding_transcript_exon_variant,,ENST00000498905,;SBF2-AS1,downstream_gene_variant,,ENST00000534671,;SBF2-AS1,downstream_gene_variant,,ENST00000525636,;SBF2,non_coding_transcript_exon_variant,,ENST00000525697,;SBF2,downstream_gene_variant,,ENST00000524961,;SBF2,non_coding_transcript_exon_variant,,ENST00000528478,;SBF2,downstream_gene_variant,,ENST00000533584,;							HIGH	4231/5550	E1411*	MTMRD_HUMAN			Transcript			.	ENSP00000256190		CCDS31427.1			1	
GFOD1	0	LGGM	GRCh37	6	13365493	13365493	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	14	8	.	.	ENST00000379287.3:c.655G>A	p.Asp219Asn	p.D219N	ENST00000379287	NM_018988.3	219	Gac/Aac	0	1	1	UPI0000072450	0	NA	ENST00000379287		ENSG00000145990	21096		22	2.14		HGNC	p.D116N		GFOD1		SNV							ENST00000379284	protein_coding	getma.org/?cm=var&var=hg19,6,13365493,C,T&fts=all		Gene3D:3.30.360.10,hmmpanther:PTHR22604,hmmpanther:PTHR22604:SF100,Superfamily_domains:SSF55347		D/N		T	medium	1320/8751		getma.org/?cm=msa&ty=f&p=GFOD1_HUMAN&rb=210&re=390&var=D219N	deleterious(0)				YES	GFOD1,missense_variant,p.Asp219Asn,ENST00000379287,NM_018988.3;GFOD1,missense_variant,p.Asp116Asn,ENST00000379284,NM_001242628.1,NM_001242630.1;							MODERATE	655/1173	D219N	GFOD1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000368589		CCDS4524.1			1	
RBM28	0	LGGM	GRCh37	7	127958048	127958048	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	27	8	.	.	ENST00000223073.2:c.1675C>G	p.Leu559Val	p.L559V	ENST00000223073	NM_018077.2	559	Ctc/Gtc	0	1	1	UPI000006FFF1	0	getma.org/pdb.php?prot=RBM28_HUMAN&from=489&to=568&var=L559V	ENST00000223073		ENSG00000106344	21863		35	-0.165		HGNC	p.L418V	rs764543656	RBM28		SNV			1				ENST00000415472	protein_coding	getma.org/?cm=var&var=hg19,7,127958048,G,C&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF163,SMART_domains:SM00360,Superfamily_domains:SSF54928		L/V		C	neutral	1790/15507	4.50E-05	getma.org/?cm=msa&ty=f&p=RBM28_HUMAN&rb=489&re=568&var=L559V	tolerated(0.16)				YES	RBM28,missense_variant,p.Leu559Val,ENST00000223073,NM_018077.2;RBM28,missense_variant,p.Leu418Val,ENST00000415472,NM_001166135.1;RBM28,intron_variant,,ENST00000481788,;RBM28,upstream_gene_variant,,ENST00000495327,;							MODERATE	1675/2280	L559V	RBM28_HUMAN			Transcript		benign(0.049)	.	ENSP00000223073	2.47E-05	CCDS5801.1			1	
C20orf112	0	LGGM	GRCh37	20	31052861	31052861	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	47	9	.	.	ENST00000359676.5:c.110-8663T>G		*37*	ENST00000359676	NM_080616.4			0	1	1	UPI0000128600	0		ENST00000359676		ENSG00000197183	16106		56			HGNC	p.S57A		C20orf112		SNV							ENST00000326071	protein_coding							C		-/5991							YES	C20orf112,missense_variant,p.Ser57Ala,ENST00000326071,;C20orf112,missense_variant,p.Ser79Ala,ENST00000375677,;C20orf112,3_prime_UTR_variant,,ENST00000375678,;C20orf112,intron_variant,,ENST00000359676,NM_080616.4,NM_001256798.1;C20orf112,intron_variant,,ENST00000475781,;							MODIFIER	-/1311		CT112_HUMAN			Transcript			.	ENSP00000352704		CCDS13202.1			1	
CMAS	0	LGGM	GRCh37	12	22213814	22213814	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	54	9	.	.	ENST00000229329.2:c.742A>G	p.Ile248Val	p.I248V	ENST00000229329	NM_018686.4	248	Ata/Gta	0	1	1	UPI0000034274	0	getma.org/pdb.php?prot=NEUA_HUMAN&from=46&to=302&var=I248V	ENST00000229329		ENSG00000111726	18290		63	2.685		HGNC	p.I89V		CMAS		SNV							ENST00000538498	protein_coding	getma.org/?cm=var&var=hg19,12,22213814,A,G&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF02348,hmmpanther:PTHR21485,hmmpanther:PTHR21485:SF3,Superfamily_domains:SSF53448		I/V		G	medium	872/1787		getma.org/?cm=msa&ty=f&p=NEUA_HUMAN&rb=46&re=302&var=I248V	tolerated(0.07)	F5GYM0_HUMAN			YES	CMAS,missense_variant,p.Ile248Val,ENST00000229329,NM_018686.4;CMAS,missense_variant,p.Ile89Val,ENST00000538498,;ST8SIA1,downstream_gene_variant,,ENST00000536535,;CMAS,missense_variant,p.Ile248Val,ENST00000534981,;CMAS,3_prime_UTR_variant,,ENST00000535610,;CMAS,non_coding_transcript_exon_variant,,ENST00000537658,;							MODERATE	742/1305	I248V	NEUA_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000229329		CCDS8696.1			1	
HERC2	0	LGGM	GRCh37	15	28538152	28538152	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	42	9	.	.	ENST00000261609.7:c.204A>T	p.Pro68=	p.P68=	ENST00000261609	NM_004667.5	68	ccA/ccT	0	1	1	UPI00004578F7	0		ENST00000261609		ENSG00000128731	4868		51			HGNC	p.P68P		HERC2		SNV			1				ENST00000261609	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		P		A		313/15337							YES	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;HERC2,non_coding_transcript_exon_variant,,ENST00000564383,;							LOW	204/14505		HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
KRT80	0	LGGM	GRCh37	12	52579344	52579344	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	12	10	.	.	ENST00000394815.2:c.328C>G	p.Leu110Val	p.L110V	ENST00000394815	NM_182507.2	110	Ctg/Gtg	0	1	1	UPI0000160118	0	NA	ENST00000394815		ENSG00000167767	27056		22	-1.735		HGNC	p.L110V	rs755778965	KRT80		SNV				0.000202			ENST00000313234	protein_coding	getma.org/?cm=var&var=hg19,12,52579344,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF64593		L/V		C	neutral	426/3859		getma.org/?cm=msa&ty=f&p=K2C80_HUMAN&rb=82&re=393&var=L110V	tolerated(1)				YES	KRT80,missense_variant,p.Leu110Val,ENST00000313234,NM_001081492.1;KRT80,missense_variant,p.Leu110Val,ENST00000394815,NM_182507.2;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;							MODERATE	328/1359	L110V	K2C80_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000378292	1.65E-05	CCDS8821.2			1	
KLHL18	0	LGGM	GRCh37	3	47371625	47371625	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	11	10	.	.	ENST00000232766.5:c.586A>T	p.Lys196Ter	p.K196*	ENST00000232766	NM_025010.4	196	Aaa/Taa	0	1	1	UPI00004703A5	0	NA	ENST00000232766		ENSG00000114648	29120		21	0		HGNC	p.K84X		KLHL18		SNV							ENST00000455924	protein_coding	getma.org/?cm=var&var=hg19,3,47371625,A,T&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF139,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037		K/*		T	NA	606/4620		NA		Q6PJF0_HUMAN,C9J4G4_HUMAN,B4DHW4_HUMAN			YES	KLHL18,stop_gained,p.Lys196Ter,ENST00000232766,NM_025010.4;KLHL18,stop_gained,p.Lys84Ter,ENST00000455924,;KLHL18,3_prime_UTR_variant,,ENST00000442272,;KLHL18,non_coding_transcript_exon_variant,,ENST00000461084,;							HIGH	586/1725	K196*	KLH18_HUMAN			Transcript			.	ENSP00000232766		CCDS33749.1			1	
OR2W3	0	LGGM	GRCh37	1	248059059	248059059	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	132	10	.	.	ENST00000537741.1:c.171C>T	p.Thr57=	p.T57=	ENST00000537741		57	acC/acT	0	1		UPI0000061EA8	0		ENST00000360358		ENSG00000238243	15021		142			HGNC	p.T57T		OR2W3		SNV							ENST00000537741	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF223,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		T		T		171/945								OR2W3,synonymous_variant,p.=,ENST00000537741,;OR2W3,synonymous_variant,p.=,ENST00000360358,NM_001001957.2;							LOW	171/945		OR2W3_HUMAN			Transcript			.	ENSP00000353516		CCDS31099.1			1	
ERN1	0	LGGM	GRCh37	17	62157051	62157051	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	60	11	.	.	ENST00000433197.3:c.253C>T	p.Leu85Phe	p.L85F	ENST00000433197	NM_001433.3	85	Ctt/Ttt	0	1	1	UPI0000201263	0	getma.org/pdb.php?prot=ERN1_HUMAN&from=4&to=540&var=L85F	ENST00000433197		ENSG00000178607	3449		71	1.265		HGNC	p.L85F		ERN1		SNV							ENST00000433197	protein_coding	getma.org/?cm=var&var=hg19,17,62157051,G,A&fts=all		hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Gene3D:2.140.10.10,Superfamily_domains:SSF50998		L/F		A	low	349/7876		getma.org/?cm=msa&ty=f&p=ERN1_HUMAN&rb=4&re=540&var=L85F	deleterious(0.05)				YES	ERN1,missense_variant,p.Leu85Phe,ENST00000433197,NM_001433.3;ERN1,non_coding_transcript_exon_variant,,ENST00000577567,;ERN1,non_coding_transcript_exon_variant,,ENST00000584041,;							MODERATE	253/2934	L85F	ERN1_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000401445		CCDS45762.1			1	
BTBD3	0	LGGM	GRCh37	20	11900373	11900373	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	51	11	.	.	ENST00000405977.1:c.425T>C	p.Leu142Ser	p.L142S	ENST00000405977	NM_001282554.1	142	tTa/tCa	0	1		UPI0000126B03	0	getma.org/pdb.php?prot=BTBD3_HUMAN&from=110&to=220&var=L142S	ENST00000378226		ENSG00000132640	15854		62	4.805		HGNC	p.X51Q		BTBD3		SNV							ENST00000449299	protein_coding	getma.org/?cm=var&var=hg19,20,11900373,T,C&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF104,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		L/S		C	high	784/4857		getma.org/?cm=msa&ty=f&p=BTBD3_HUMAN&rb=110&re=220&var=L142S	deleterious(0)	Q9NST6_HUMAN,Q52M42_HUMAN,B4DK27_HUMAN,B0QYR1_HUMAN,B0QYR0_HUMAN,B0QYQ9_HUMAN				BTBD3,missense_variant,p.Leu142Ser,ENST00000405977,NM_001282554.1,NM_001282550.1;BTBD3,missense_variant,p.Leu142Ser,ENST00000378226,NM_014962.2,NM_001282554.1,NM_001282550.1;BTBD3,missense_variant,p.Leu81Ser,ENST00000399006,NM_001282554.1,NM_001282551.1;BTBD3,missense_variant,p.Leu81Ser,ENST00000254977,NM_181443.1,NM_001282554.1;BTBD3,missense_variant,p.Leu81Ser,ENST00000422390,;BTBD3,missense_variant,p.Leu31Ser,ENST00000430557,;BTBD3,missense_variant,p.Leu31Ser,ENST00000455911,;BTBD3,downstream_gene_variant,,ENST00000450368,;RP4-742J24.2,upstream_gene_variant,,ENST00000439529,;BTBD3,non_coding_transcript_exon_variant,,ENST00000488503,;BTBD3,non_coding_transcript_exon_variant,,ENST00000471120,;BTBD3,non_coding_transcript_exon_variant,,ENST00000473416,;BTBD3,upstream_gene_variant,,ENST00000473180,;BTBD3,stop_lost,p.Ter51GlnextTer36,ENST00000449299,;							MODERATE	425/1569	L142S	BTBD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367471		CCDS13113.1			1	
PANK2	0	LGGM	GRCh37	20	3891370	3891370	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	76	12	.	.	ENST00000316562.4:c.1128A>G	p.Pro376=	p.P376=	ENST00000316562	NM_153638.2	376	ccA/ccG	0	1	1	UPI000036701A	0		ENST00000316562		ENSG00000125779	15894		88			HGNC	p.P85P		PANK2		SNV			1				ENST00000497424	protein_coding			hmmpanther:PTHR12280:SF25,hmmpanther:PTHR12280,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630		P		G		1134/2280				Q52M85_HUMAN,D3DVZ1_HUMAN,A4FU43_HUMAN			YES	PANK2,synonymous_variant,p.=,ENST00000497424,NM_024960.4,NM_153640.2;PANK2,synonymous_variant,p.=,ENST00000316562,NM_153638.2;PANK2,synonymous_variant,p.=,ENST00000610179,;PANK2,5_prime_UTR_variant,,ENST00000495692,;PANK2,non_coding_transcript_exon_variant,,ENST00000464452,;PANK2,non_coding_transcript_exon_variant,,ENST00000471830,;PANK2,3_prime_UTR_variant,,ENST00000336066,;							LOW	1128/1713		PANK2_HUMAN			Transcript			.	ENSP00000313377		CCDS13071.2			1	
RFX3	0	LGGM	GRCh37	9	3270510	3270510	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	39	12	.	.	ENST00000382004.3:c.1218A>G	p.Ile406Met	p.I406M	ENST00000382004	NM_134428.1	406	atA/atG	0	1	1	UPI0000070BFB	0	NA	ENST00000382004		ENSG00000080298	9984		51	1.1		HGNC	p.I406M		RFX3		SNV							ENST00000358730	protein_coding	getma.org/?cm=var&var=hg19,9,3270510,T,C&fts=all		hmmpanther:PTHR12619:SF20,hmmpanther:PTHR12619		I/M		C	low	1530/9307		getma.org/?cm=msa&ty=f&p=RFX3_HUMAN&rb=249&re=448&var=I406M	tolerated(0.22)	F6XM74_HUMAN,F6USP3_HUMAN			YES	RFX3,missense_variant,p.Ile406Met,ENST00000382004,NM_134428.1,NM_001282116.1;RFX3,missense_variant,p.Ile406Met,ENST00000302303,NM_002919.2;RFX3,missense_variant,p.Ile406Met,ENST00000358730,;RFX3,5_prime_UTR_variant,,ENST00000458034,;							MODERATE	1218/2250	I406M	RFX3_HUMAN			Transcript		benign(0.004)	.	ENSP00000371434		CCDS6449.1			1	
ADAR	0	LGGM	GRCh37	1	154574052	154574052	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	61	12	.	.	ENST00000368474.4:c.1066A>G	p.Thr356Ala	p.T356A	ENST00000368474	NM_001111.4	356	Aca/Gca	0	1	1	UPI000045626B	0	getma.org/pdb.php?prot=DSRAD_HUMAN&from=295&to=359&var=T356A	ENST00000368474		ENSG00000160710	225		73	1.245		HGNC	p.T399A	rs759323852	ADAR		SNV			1				ENST00000292205	protein_coding	getma.org/?cm=var&var=hg19,1,154574052,T,C&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF02295,PROSITE_profiles:PS50139,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,SMART_domains:SM00550,Superfamily_domains:SSF46785		T/A		C	low	1266/6620	1.50E-05	getma.org/?cm=msa&ty=f&p=DSRAD_HUMAN&rb=295&re=359&var=T356A	tolerated(0.15)				YES	ADAR,missense_variant,p.Thr356Ala,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,missense_variant,p.Thr399Ala,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,missense_variant,p.Thr61Ala,ENST00000368471,;ADAR,missense_variant,p.Thr351Ala,ENST00000529168,;ADAR,downstream_gene_variant,,ENST00000471068,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,downstream_gene_variant,,ENST00000494866,;ADAR,non_coding_transcript_exon_variant,,ENST00000463920,;							MODERATE	1066/3681	T356A	DSRAD_HUMAN			Transcript		benign(0.077)	.	ENSP00000357459	8.24E-06	CCDS1071.1			1	
MYO1B	0	LGGM	GRCh37	2	192252172	192252172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	52	12	.	.	ENST00000392318.3:c.1777A>G	p.Ile593Val	p.I593V	ENST00000392318	NM_001130158.1	593	Att/Gtt	0	1		UPI00001A9466	0	getma.org/pdb.php?prot=MYO1B_HUMAN&from=17&to=688&var=I593V	ENST00000304164		ENSG00000128641	7596		64	0.295		HGNC	p.I593V		MYO1B		SNV							ENST00000392316	protein_coding	getma.org/?cm=var&var=hg19,2,192252172,A,G&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277,SMART_domains:SM00242,Superfamily_domains:SSF52540		I/V		G	neutral	1870/4933		getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=17&re=688&var=I593V	tolerated(0.06)	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN				MYO1B,missense_variant,p.Ile593Val,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Ile593Val,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Ile593Val,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Ile593Val,ENST00000392316,;MYO1B,upstream_gene_variant,,ENST00000439065,;MYO1B,downstream_gene_variant,,ENST00000496992,;MYO1B,non_coding_transcript_exon_variant,,ENST00000494129,;							MODERATE	1777/3411	I593V	MYO1B_HUMAN			Transcript		benign(0.369)	.	ENSP00000306382		CCDS46477.1			1	
SEPT9	0	LGGM	GRCh37	17	75471904	75471904	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	10	12	.	.	ENST00000427177.1:c.722-6322G>A		*241*	ENST00000427177	NM_001113491.1			0	1	1	UPI00001AF955	0		ENST00000427177		ENSG00000184640	7323		22			HGNC	p.V102I		SEPT9		SNV			1				ENST00000427180	protein_coding							A		-/3821				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			YES	SEPT9,missense_variant,p.Val102Ile,ENST00000427180,NM_001113495.1;SEPT9,intron_variant,,ENST00000329047,NM_006640.4;SEPT9,intron_variant,,ENST00000431235,;SEPT9,intron_variant,,ENST00000449803,NM_001113492.1;SEPT9,intron_variant,,ENST00000423034,NM_001113493.1;SEPT9,intron_variant,,ENST00000427674,NM_001113494.1;SEPT9,intron_variant,,ENST00000427177,NM_001113491.1;SEPT9,intron_variant,,ENST00000541152,NM_001113496.1;SEPT9,intron_variant,,ENST00000588690,;SEPT9,intron_variant,,ENST00000590294,;SEPT9,intron_variant,,ENST00000592420,;SEPT9,intron_variant,,ENST00000591198,;SEPT9,intron_variant,,ENST00000592951,;SEPT9,intron_variant,,ENST00000591088,;SEPT9,intron_variant,,ENST00000585930,;SEPT9,intron_variant,,ENST00000585929,;SEPT9,intron_variant,,ENST00000588958,;SEPT9,intron_variant,,ENST00000593189,;SEPT9,intron_variant,,ENST00000586128,;SEPT9,intron_variant,,ENST00000591704,;SEPT9,intron_variant,,ENST00000590059,;SEPT9,intron_variant,,ENST00000590938,;SEPT9,intron_variant,,ENST00000586521,;SEPT9,intron_variant,,ENST00000591020,;SEPT9,intron_variant,,ENST00000586433,;SEPT9,intron_variant,,ENST00000591472,;SEPT9,intron_variant,,ENST00000590917,;RP11-75C10.9,upstream_gene_variant,,ENST00000591110,;RP11-75C10.7,downstream_gene_variant,,ENST00000585369,;SEPT9,intron_variant,,ENST00000592481,;SEPT9,intron_variant,,ENST00000588575,;							MODIFIER	-/1761		SEPT9_HUMAN			Transcript			.	ENSP00000391249		CCDS45790.1			1	
MAGI3	0	LGGM	GRCh37	1	114189163	114189163	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	64	13	.	.	ENST00000307546.9:c.2054C>G	p.Pro685Arg	p.P685R	ENST00000307546	NM_001142782.1	685	cCt/cGt	0	1	1	UPI00004589AE	0	NA	ENST00000307546		ENSG00000081026	29647		77	1.54		HGNC	p.P710R		MAGI3		SNV							ENST00000369617	protein_coding	getma.org/?cm=var&var=hg19,1,114189163,C,G&fts=all		hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF10,Low_complexity_(Seg):seg		P/R		G	low	2129/6430		getma.org/?cm=msa&ty=f&p=MAGI3_HUMAN&rb=516&re=715&var=P710R	deleterious(0)				YES	MAGI3,missense_variant,p.Pro685Arg,ENST00000369615,NM_152900.2;MAGI3,missense_variant,p.Pro685Arg,ENST00000307546,NM_001142782.1;MAGI3,missense_variant,p.Pro710Arg,ENST00000369617,;MAGI3,missense_variant,p.Pro685Arg,ENST00000369611,;							MODERATE	2054/4446	P710R	MAGI3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000304604		CCDS44196.1			1	
ZNF638	0	LGGM	GRCh37	2	71615805	71615805	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	32	13	.	.	ENST00000409544.1:c.2378-7466G>A		*793*	ENST00000409544	NM_001252612.1			0	1		UPI000013D51B	0		ENST00000264447		ENSG00000075292	17894	0.000105	45			HGNC	p.R810R	rs775042723	ZNF638		SNV							ENST00000410075	protein_coding							A		-/6505				Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN				ZNF638,intron_variant,,ENST00000409544,NM_001252612.1;ZNF638,intron_variant,,ENST00000264447,NM_001014972.2,NM_014497.4,NM_001252613.1;ZNF638,intron_variant,,ENST00000355812,;ZNF638,downstream_gene_variant,,ENST00000377802,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000491843,;							MODIFIER	-/5937		ZN638_HUMAN			Transcript			.	ENSP00000264447	8.24E-06	CCDS1917.1			1	
C10orf113	0	LGGM	GRCh37	10	21435373	21435373	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	33	13	.	.	ENST00000534331.1:c.65T>C	p.Ile22Thr	p.I22T	ENST00000534331	NM_001010896.2	22	aTt/aCt	0	1	1	UPI00001D8111	0	NA	ENST00000534331		ENSG00000204683	31447		46	0		HGNC	p.I22T	rs767686913	C10orf113		SNV							ENST00000534331	protein_coding	getma.org/?cm=var&var=hg19,10,21435373,A,G&fts=all				I/T		G	neutral	116/579		getma.org/?cm=msa&ty=f&p=CJ113_HUMAN&rb=1&re=144&var=I22T	deleterious_low_confidence(0.01)				YES	C10orf113,missense_variant,p.Ile22Thr,ENST00000529198,NM_001177483.1;C10orf113,missense_variant,p.Ile22Thr,ENST00000534331,NM_001010896.2;C10orf113,missense_variant,p.Ile12Thr,ENST00000377118,;NEBL,intron_variant,,ENST00000417816,NM_001173484.1,NM_213569.2;							MODERATE	65/468	I22T	CJ113_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000433646		CCDS31162.2			1	
GBF1	0	LGGM	GRCh37	10	104129949	104129949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	231	13	.	.	ENST00000369983.3:c.3355A>G	p.Met1119Val	p.M1119V	ENST00000369983	NM_004193.2	1119	Atg/Gtg	0	1	1	UPI000012B228	0	NA	ENST00000369983		ENSG00000107862	4181		244	0		HGNC	p.M1119V		GBF1		SNV							ENST00000369983	protein_coding	getma.org/?cm=var&var=hg19,10,104129949,A,G&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138		M/V		G	neutral	3615/6403		getma.org/?cm=msa&ty=f&p=GBF1_HUMAN&rb=1085&re=1284&var=M1119V	deleterious(0.03)	Q149P0_HUMAN			YES	GBF1,missense_variant,p.Met1119Val,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;							MODERATE	3355/5580	M1119V	GBF1_HUMAN			Transcript		benign(0.003)	.	ENSP00000359000		CCDS7533.1			1	
NPC1	0	LGGM	GRCh37	18	21148806	21148806	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	32	13	.	.	ENST00000269228.5:c.444C>G	p.Val148=	p.V148=	ENST00000269228	NM_000271.4	148	gtC/gtG	0	1	1	UPI000013D80F	0		ENST00000269228		ENSG00000141458	7897		45			HGNC	p.V148V		NPC1		SNV			1				ENST00000269228	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		V		C		999/5157							YES	NPC1,synonymous_variant,p.=,ENST00000269228,NM_000271.4;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,downstream_gene_variant,,ENST00000587223,;							LOW	444/3837		NPC1_HUMAN			Transcript			.	ENSP00000269228		CCDS11878.1			1	
COL6A6	0	LGGM	GRCh37	3	130300622	130300622	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	180	13	.	.	ENST00000358511.6:c.3765G>C	p.Glu1255Asp	p.E1255D	ENST00000358511	NM_001102608.1	1255	gaG/gaC	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		193	1.78		HGNC	p.E1255D	rs369127867	COL6A6		SNV	C:0						ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130300622,G,C&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		E/D	C:0.0002	C	low	3796/9581	3.00E-05	getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1187&re=1371&var=E1255D	deleterious(0.01)				YES	COL6A6,missense_variant,p.Glu1255Asp,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Glu1255Asp,ENST00000453409,;COL6A6,missense_variant,p.Glu13Asp,ENST00000511332,;COL6A6,missense_variant,p.Glu33Asp,ENST00000506143,;							MODERATE	3765/6792	E1255D	CO6A6_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000351310	1.66E-05	CCDS46911.1			1	
CAT	0	LGGM	GRCh37	11	34477708	34477708	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	14	14	.	.	ENST00000241052.4:c.862C>T	p.Gln288Ter	p.Q288*	ENST00000241052	NM_001752.3	288	Cag/Tag	0	1	1	UPI000002F090	0	NA	ENST00000241052		ENSG00000121691	1516		28	0		HGNC	p.Q288X		CAT		SNV			1				ENST00000241052	protein_coding	getma.org/?cm=var&var=hg19,11,34477708,C,T&fts=all		Superfamily_domains:SSF56634,SMART_domains:SM01060,PIRSF_domain:PIRSF038928,Gene3D:2.40.180.10,Pfam_domain:PF00199,hmmpanther:PTHR11465,PROSITE_profiles:PS51402		Q/*		T	NA	951/2302		NA		Q8TAK2_HUMAN			YES	CAT,stop_gained,p.Gln288Ter,ENST00000241052,NM_001752.3;CAT,non_coding_transcript_exon_variant,,ENST00000528104,;CAT,upstream_gene_variant,,ENST00000530343,;							HIGH	862/1584	Q288*	CATA_HUMAN			Transcript			.	ENSP00000241052		CCDS7891.1			1	
HYLS1	0	LGGM	GRCh37	11	125770037	125770037	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	23	15	.	.	ENST00000425380.2:c.774A>G	p.Ile258Met	p.I258M	ENST00000425380	NM_001134793.1	258	atA/atG	0	1		UPI000006DF2D	0	NA	ENST00000356438		ENSG00000198331	26558		38	1.39		HGNC	p.I258M	rs368940854	HYLS1		SNV	G:0		1				ENST00000356438	protein_coding	getma.org/?cm=var&var=hg19,11,125770037,A,G&fts=all		Pfam_domain:PF15311		I/M	G:0.0001	G	low	1308/1810	8.99E-05	getma.org/?cm=msa&ty=f&p=HYLS1_HUMAN&rb=20&re=297&var=I258M	tolerated(0.15)					HYLS1,missense_variant,p.Ile258Met,ENST00000425380,NM_001134793.1;HYLS1,missense_variant,p.Ile258Met,ENST00000356438,NM_145014.2;HYLS1,missense_variant,p.Ile258Met,ENST00000526028,;PUS3,intron_variant,,ENST00000227474,NM_031307.3,NM_001271985.1;PUS3,intron_variant,,ENST00000534158,;PUS3,intron_variant,,ENST00000529801,;DDX25,upstream_gene_variant,,ENST00000530414,;DDX25,upstream_gene_variant,,ENST00000263576,NM_013264.4;PUS3,upstream_gene_variant,,ENST00000530811,;DDX25,upstream_gene_variant,,ENST00000530129,;RP11-680F20.9,downstream_gene_variant,,ENST00000533033,;DDX25,upstream_gene_variant,,ENST00000525943,;							MODERATE	774/900	I258M	HYLS1_HUMAN			Transcript		benign(0.029)	.	ENSP00000348815	4.94E-05	CCDS8467.1			1	
PCDHGC4	0	LGGM	GRCh37	5	140864967	140864967	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	42	15	.	.	ENST00000306593.1:c.227G>A	p.Arg76His	p.R76H	ENST00000306593	NM_018928.2	76	cGt/cAt	0	1	1	UPI0000071C3B	0	getma.org/pdb.php?prot=PCDGL_HUMAN&from=29&to=112&var=R76H	ENST00000306593		ENSG00000242419	8717		57	-0.965		HGNC	p.R76H		PCDHGC4		SNV							ENST00000306593	protein_coding	getma.org/?cm=var&var=hg19,5,140864967,G,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF80,Gene3D:2.60.40.60,Pfam_domain:PF08266,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		R/H		A	neutral	227/4623		getma.org/?cm=msa&ty=f&p=PCDGL_HUMAN&rb=29&re=112&var=R76H	tolerated(0.06)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGC4,missense_variant,p.Arg76His,ENST00000306593,NM_018928.2,NM_032406.1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGC3,intron_variant,,ENST00000308177,NM_002588.2,NM_032402.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;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,;PCDHGC5,upstream_gene_variant,,ENST00000252087,NM_018929.2,NM_032403.2,NM_032407.1;							MODERATE	227/2817	R76H	PCDGL_HUMAN			Transcript		benign(0.01)	.	ENSP00000306918		CCDS4262.1			1	
MUC20	0	LGGM	GRCh37	3	195453329	195453329	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	79	15	.	.	ENST00000447234.2:c.1855C>T	p.Arg619Ter	p.R619*	ENST00000447234	NM_001282506.1	619	Cga/Tga	0	1	1	UPI000198CC5A	0	NA	ENST00000447234		ENSG00000176945	23282	0.000173	94	0		HGNC	p.R584X	rs73203946,COSM126815,COSM1149706	MUC20	0.000182	SNV	A:0.025			0.00103		0,1,1	ENST00000445522	protein_coding	getma.org/?cm=var&var=hg19,3,195453329,C,T&fts=all		Low_complexity_(Seg):seg		R/*	A:0.0491	T	NA	1981/2589	0.00015	NA		I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN			YES	MUC20,stop_gained,p.Arg448Ter,ENST00000320736,NM_152673.2;MUC20,stop_gained,p.Arg584Ter,ENST00000445522,;MUC20,stop_gained,p.Arg619Ter,ENST00000447234,NM_001282506.1;MUC20,stop_gained,p.Arg619Ter,ENST00000436408,;MUC20,stop_gained,p.Arg31Ter,ENST00000423938,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,downstream_gene_variant,,ENST00000455807,;LINC00969,downstream_gene_variant,,ENST00000600288,;LINC00969,downstream_gene_variant,,ENST00000599566,;LINC00969,downstream_gene_variant,,ENST00000594976,;LINC00969,downstream_gene_variant,,ENST00000432194,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,downstream_gene_variant,,ENST00000480350,;MUC20,non_coding_transcript_exon_variant,,ENST00000498018,;	0.000464				0,1,1		HIGH	1855/2130	R619*	MUC20_HUMAN			Transcript			common_variant	ENSP00000414350	0.00033	CCDS63877.1			1	
CAMKV	0	LGGM	GRCh37	3	49897690	49897690	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	20	15	.	.	ENST00000477224.1:c.856A>G	p.Ile286Val	p.I286V	ENST00000477224		286	Att/Gtt	0	1	1	UPI000004184F	0	getma.org/pdb.php?prot=CAMKV_HUMAN&from=24&to=286&var=I286V	ENST00000477224		ENSG00000164076	28788		35	0.78		HGNC	p.I211V		CAMKV		SNV							ENST00000467248	protein_coding	getma.org/?cm=var&var=hg19,3,49897690,T,C&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF18,Superfamily_domains:SSF56112		I/V		C	neutral	1335/3314		getma.org/?cm=msa&ty=f&p=CAMKV_HUMAN&rb=24&re=286&var=I286V	tolerated(0.05)	B4DM24_HUMAN			YES	CAMKV,missense_variant,p.Ile286Val,ENST00000477224,;CAMKV,missense_variant,p.Ile258Val,ENST00000296471,;CAMKV,missense_variant,p.Ile286Val,ENST00000488336,;CAMKV,missense_variant,p.Ile286Val,ENST00000463537,NM_024046.3;CAMKV,missense_variant,p.Ile211Val,ENST00000467248,;CAMKV,missense_variant,p.Ile243Val,ENST00000466940,;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,splice_region_variant,,ENST00000475665,;CAMKV,splice_region_variant,,ENST00000487726,;CAMKV,splice_region_variant,,ENST00000466535,;CAMKV,splice_region_variant,,ENST00000478149,;TRAIP,upstream_gene_variant,,ENST00000477546,;CAMKV,downstream_gene_variant,,ENST00000483811,;CAMKV,downstream_gene_variant,,ENST00000472895,;TRAIP,upstream_gene_variant,,ENST00000473195,;CAMKV,downstream_gene_variant,,ENST00000476105,;TRAIP,upstream_gene_variant,,ENST00000489948,;CAMKV,downstream_gene_variant,,ENST00000479704,;							MODERATE	856/1506	I286V	CAMKV_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000419195		CCDS33762.1			1	
ANKRD30B	0	LGGM	GRCh37	18	14850374	14850374	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	22	16	.	.	ENST00000358984.4:c.3200T>C	p.Leu1067Ser	p.L1067S	ENST00000358984	NM_001145029.1	1067	tTg/tCg	0	1	1	UPI0000425FF7	0	NA	ENST00000358984		ENSG00000180777	24165		38	1.29		HGNC	p.L1067S		ANKRD30B		SNV							ENST00000358984	protein_coding	getma.org/?cm=var&var=hg19,18,14850374,T,C&fts=all		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20		L/S		C	low	3380/4359		getma.org/?cm=msa&ty=f&p=AN30B_HUMAN&rb=321&re=1392&var=L1067S	tolerated(0.3)				YES	ANKRD30B,missense_variant,p.Leu1067Ser,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;							MODERATE	3200/4179	L1067S	AN30B_HUMAN			Transcript		benign(0.07)	.	ENSP00000351875		CCDS54182.1			1	
IGHV1-58	0	LGGM	GRCh37	14	107078576	107078576	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	46	16	.	.	ENST00000390628.2:c.148A>T	p.Ser50Cys	p.S50C	ENST00000390628		50	Agc/Tgc	0	1	1	UPI000011AAC6	0		ENST00000390628		ENSG00000211968	5555		62			HGNC	p.S50C		IGHV1-58		SNV							ENST00000390628	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,SMART_domains:SM00406,Superfamily_domains:SSF48726		S/C		A		209/412							YES	IGHV1-58,missense_variant,p.Ser50Cys,ENST00000390628,;IGHV4-59,downstream_gene_variant,,ENST00000455737,;IGHV4-59,downstream_gene_variant,,ENST00000390629,;IGHV3-57,upstream_gene_variant,,ENST00000520143,;							MODERATE	148/351					Transcript		possibly_damaging(0.837)	.	ENSP00000375037					1	
FADS1	0	LGGM	GRCh37	11	61571209	61571209	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	31	16	.	.	ENST00000350997.7:c.1084C>A	p.Arg362Ser	p.R362S	ENST00000350997	NM_013402.4	362	Cgc/Agc	0	1	1	UPI00001AF33B	0	NA	ENST00000350997		ENSG00000149485	3574		47	2.53		HGNC	p.R91S		FADS1		SNV							ENST00000539999	protein_coding	getma.org/?cm=var&var=hg19,11,61571209,G,T&fts=all		Pfam_domain:PF00487,PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF19,Transmembrane_helices:TMhelix		R/S		T	medium	1317/4523		getma.org/?cm=msa&ty=f&p=FADS1_HUMAN&rb=155&re=418&var=R305S	deleterious(0.01)	I3ZNT3_HUMAN,I3ZNS6_HUMAN,I3ZNS3_HUMAN,I3ZNS1_HUMAN,I3ZNN6_HUMAN,I3ZNL9_HUMAN,I3ZNL2_HUMAN,I3ZNH3_HUMAN,I3ZNE3_HUMAN,F5H8G5_HUMAN,F5H852_HUMAN,F5H5X5_HUMAN,F5H3P6_HUMAN,F5H2H3_HUMAN,F5H1Q7_HUMAN,F5H0Y2_HUMAN,F5GYH4_HUMAN,C9JJB3_HUMAN,C9J425_HUMAN			YES	FADS1,missense_variant,p.Arg362Ser,ENST00000350997,NM_013402.4;FADS1,missense_variant,p.Arg53Ser,ENST00000536991,;FADS1,missense_variant,p.Arg221Ser,ENST00000542506,;FADS1,missense_variant,p.Arg221Ser,ENST00000433932,;FADS1,missense_variant,p.Arg7Ser,ENST00000460649,;FADS1,missense_variant,p.Arg91Ser,ENST00000539999,;FADS2,intron_variant,,ENST00000574708,;FADS1,non_coding_transcript_exon_variant,,ENST00000496123,;							MODERATE	1084/1506	R305S	FADS1_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000322229		CCDS8011.2			1	
OTOGL	0	LGGM	GRCh37	12	80746186	80746186	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	82	16	.	.	ENST00000458043.2:c.5350T>A	p.Cys1784Ser	p.C1784S	ENST00000458043	NM_173591.3	1784	Tgt/Agt	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901		98	2.295		HGNC	p.C1772S		OTOGL		SNV			1				ENST00000547103	protein_coding	getma.org/?cm=var&var=hg19,12,80746186,T,A&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832		C/S		A	medium	5320/8032		getma.org/?cm=msa&ty=f&p=OTOGL_HUMAN&rb=1&re=200&var=C149S	deleterious(0)	E2QRK2_HUMAN				OTOGL,missense_variant,p.Cys1784Ser,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Cys1772Ser,ENST00000547103,;OTOGL,missense_variant,p.Cys227Ser,ENST00000298820,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;							MODERATE	5314/6999	C149S	OTOGL_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000447211					1	
CRYGS	0	LGGM	GRCh37	3	186256741	186256741	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	23	16	.	.	ENST00000392499.2:c.281A>G	p.Tyr94Cys	p.Y94C	ENST00000392499	NM_017541.2	94	tAt/tGt	0	1		UPI000013EC82	0	getma.org/pdb.php?prot=CRBS_HUMAN&from=94&to=134&var=Y94C	ENST00000307944		ENSG00000213139	2417		39	2.495		HGNC	p.Y94C		CRYGS		SNV			1				ENST00000307944	protein_coding	getma.org/?cm=var&var=hg19,3,186256741,T,C&fts=all		Gene3D:2.60.20.10,PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF6,Superfamily_domains:SSF49695		Y/C		C	medium	406/759		getma.org/?cm=msa&ty=f&p=CRBS_HUMAN&rb=94&re=134&var=Y94C	deleterious(0.05)	Q9UFA7_HUMAN				CRYGS,missense_variant,p.Tyr94Cys,ENST00000392499,NM_017541.2;CRYGS,missense_variant,p.Tyr94Cys,ENST00000307944,;CRYGS,non_coding_transcript_exon_variant,,ENST00000460288,;							MODERATE	281/537	Y94C	CRBS_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000312099		CCDS3275.1			1	
HECTD2	0	LGGM	GRCh37	10	93252127	93252127	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	25	17	.	.	ENST00000298068.5:c.1318G>A	p.Asp440Asn	p.D440N	ENST00000298068	NM_182765.3	440	Gat/Aat	0	1	1	UPI0000246D14	0	getma.org/pdb.php?prot=HECD2_HUMAN&from=437&to=776&var=D440N	ENST00000298068		ENSG00000165338	26736		42	1.33		HGNC	p.D440N	rs777360958	HECTD2	6.06E-05	SNV							ENST00000298068	protein_coding	getma.org/?cm=var&var=hg19,10,93252127,G,A&fts=all		Superfamily_domains:SSF56204,SMART_domains:SM00119,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF69,PROSITE_profiles:PS50237		D/N		A	low	1412/4802		getma.org/?cm=msa&ty=f&p=HECD2_HUMAN&rb=437&re=776&var=D440N	deleterious(0.02)	B3KV18_HUMAN			YES	HECTD2,missense_variant,p.Asp444Asn,ENST00000446394,NM_001284274.1;HECTD2,missense_variant,p.Asp440Asn,ENST00000298068,NM_182765.3;HECTD2,missense_variant,p.Asp90Asn,ENST00000371667,;HECTD2,missense_variant,p.Asp29Asn,ENST00000536715,;HECTD2,downstream_gene_variant,,ENST00000498446,;							MODERATE	1318/2331	D440N	HECD2_HUMAN			Transcript		possibly_damaging(0.624)	.	ENSP00000298068	8.24E-06	CCDS7414.1			1	
PRKAG3	0	LGGM	GRCh37	2	219688500	219688500	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	33	17	.	.	ENST00000529249.1:c.1455T>A	p.Asp485Glu	p.D485E	ENST00000529249		485	gaT/gaA	0	1		UPI0000043D98	0	NA	ENST00000233944		ENSG00000115592	9387		50	1.245		HGNC	p.D485E		PRKAG3		SNV			1				ENST00000233944	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,219688500,A,T&fts=all		PROSITE_profiles:PS51371,hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF31		D/E		T	low	1501/2326		getma.org/?cm=msa&ty=f&p=AAKG3_HUMAN&rb=427&re=486&var=D485E	tolerated(0.07)	B4DT70_HUMAN				PRKAG3,missense_variant,p.Asp460Glu,ENST00000439262,NM_017431.2;PRKAG3,missense_variant,p.Asp485Glu,ENST00000529249,;PRKAG3,missense_variant,p.Asp301Glu,ENST00000545803,;PRKAG3,downstream_gene_variant,,ENST00000392098,;RP11-459I19.1,downstream_gene_variant,,ENST00000608881,;PRKAG3,missense_variant,p.Asp485Glu,ENST00000233944,;PRKAG3,downstream_gene_variant,,ENST00000490971,;PRKAG3,downstream_gene_variant,,ENST00000470307,;							MODERATE	1455/1470	D485E	AAKG3_HUMAN			Transcript		benign(0.053)	.	ENSP00000233944		CCDS2424.1			1	
C1orf109	0	LGGM	GRCh37	1	38148827	38148827	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	42	18	.	.	ENST00000358011.4:c.580C>A	p.Leu194Ile	p.L194I	ENST00000358011	NM_017850.1	194	Cta/Ata	0	1	1	UPI00000736AB	0	NA	ENST00000358011		ENSG00000116922	26039		60	2.175		HGNC	p.L194I		C1orf109		SNV							ENST00000358011	protein_coding	getma.org/?cm=var&var=hg19,1,38148827,G,T&fts=all		hmmpanther:PTHR16234,hmmpanther:PTHR16234:SF4		L/I		T	medium	770/2355		getma.org/?cm=msa&ty=f&p=CA109_HUMAN&rb=7&re=201&var=L194I	deleterious(0.02)	B7Z9X8_HUMAN,B4DRQ5_HUMAN			YES	C1orf109,missense_variant,p.Leu194Ile,ENST00000358011,NM_017850.1;C1orf109,missense_variant,p.Leu194Ile,ENST00000464085,;C1orf109,downstream_gene_variant,,ENST00000486637,;C1orf109,downstream_gene_variant,,ENST00000461359,;C1orf109,downstream_gene_variant,,ENST00000491981,;C1orf109,downstream_gene_variant,,ENST00000477060,;C1orf109,non_coding_transcript_exon_variant,,ENST00000609516,;C1orf109,non_coding_transcript_exon_variant,,ENST00000464178,;C1orf109,3_prime_UTR_variant,,ENST00000494120,;							MODERATE	580/612	L194I	CA109_HUMAN			Transcript		benign(0.052)	.	ENSP00000350704		CCDS423.1			1	
RAB11A	0	LGGM	GRCh37	15	66170143	66170143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	44	18	.	.	ENST00000261890.2:c.280G>T	p.Ala94Ser	p.A94S	ENST00000261890	NM_004663.4	94	Gct/Tct	0	1	1	UPI0000029ED1	0	getma.org/pdb.php?prot=RB11A_HUMAN&from=13&to=174&var=A94S	ENST00000261890		ENSG00000103769	9760		62	-0.8		HGNC	p.A94S		RAB11A		SNV							ENST00000565075	protein_coding	getma.org/?cm=var&var=hg19,15,66170143,G,T&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF313,hmmpanther:PTHR24073,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540		A/S		T	neutral	408/4930		getma.org/?cm=msa&ty=f&p=RB11A_HUMAN&rb=13&re=174&var=A94S	tolerated_low_confidence(0.41)	H3BN38_HUMAN			YES	RAB11A,missense_variant,p.Ala94Ser,ENST00000261890,NM_004663.4,NM_001206836.1;RAB11A,missense_variant,p.Ala94Ser,ENST00000569896,;RAB11A,missense_variant,p.Ala94Ser,ENST00000565075,;RAB11A,missense_variant,p.Ala94Ser,ENST00000566233,;RAB11A,missense_variant,p.Ala94Ser,ENST00000435304,;RAB11A,splice_region_variant,,ENST00000564910,;RAB11A,5_prime_UTR_variant,,ENST00000567671,;RAB11A,non_coding_transcript_exon_variant,,ENST00000568850,;RAB11A,intron_variant,,ENST00000569304,;							MODERATE	280/651	A94S	RB11A_HUMAN			Transcript		benign(0.194)	.	ENSP00000261890		CCDS10212.1			1	
RPS21	0	LGGM	GRCh37	20	60963022	60963022	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	65	19	.	.	ENST00000343986.4:c.186+52C>T		*62*	ENST00000343986	NM_001024.3			0	1	1	UPI0000134E79	0		ENST00000343986		ENSG00000171858	10409		84			HGNC	p.P80S	rs559926014	RPS21		SNV				0.000295			ENST00000370592	protein_coding		T:0.0008					T		-/344				Q8WVC2_HUMAN,Q6FGH5_HUMAN	T:0	T:0	YES	RPS21,missense_variant,p.Pro80Ser,ENST00000370592,;RPS21,3_prime_UTR_variant,,ENST00000370562,;RPS21,intron_variant,,ENST00000450116,;RPS21,intron_variant,,ENST00000343986,NM_001024.3;CABLES2,downstream_gene_variant,,ENST00000279101,NM_031215.2;CABLES2,downstream_gene_variant,,ENST00000453274,;RPS21,intron_variant,,ENST00000492356,;		T:0.0002					MODIFIER	-/252		RS21_HUMAN		T:0	Transcript			.	ENSP00000345957	2.47E-05	CCDS13497.1		T:0	1	
TPTE	0	LGGM	GRCh37	21	10934987	10934987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	130	19	.	.	ENST00000361285.4:c.806G>A	p.Arg269Gln	p.R269Q	ENST00000361285	NM_199261.2	269	cGg/cAg	0	1	1	UPI000016A18A	0	getma.org/pdb.php?prot=TPTE_HUMAN&from=259&to=386&var=R269Q	ENST00000361285		ENSG00000166157	12023	0.000173	149	2.365		HGNC	p.R251Q	rs754178012	TPTE	0.000121	SNV				9.62E-05			ENST00000298232	protein_coding	getma.org/?cm=var&var=hg19,21,10934987,C,T&fts=all		Gene3D:3.90.190.10,PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Superfamily_domains:SSF52799		R/Q		T	medium	1136/2150	1.50E-05	getma.org/?cm=msa&ty=f&p=TPTE_HUMAN&rb=259&re=386&var=R269Q	tolerated(0.09)				YES	TPTE,missense_variant,p.Arg251Gln,ENST00000298232,NM_199259.2;TPTE,missense_variant,p.Arg269Gln,ENST00000361285,NM_199261.2;TPTE,missense_variant,p.Arg231Gln,ENST00000342420,NM_199260.2;TPTE,non_coding_transcript_exon_variant,,ENST00000415664,;TPTE,non_coding_transcript_exon_variant,,ENST00000447568,;CYCSP41,downstream_gene_variant,,ENST00000451532,;	0.000463						MODERATE	806/1656	R269Q	TPTE_HUMAN			Transcript		possibly_damaging(0.611)	common_variant	ENSP00000355208	9.06E-05	CCDS13560.2			1	
SHROOM1	0	LGGM	GRCh37	5	132160457	132160457	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	17	19	.	.	ENST00000378679.3:c.1091G>A	p.Ser364Asn	p.S364N	ENST00000378679	NM_001172700.1	364	aGc/aAc	0	1	1	UPI000036FD4D	0	NA	ENST00000378679		ENSG00000164403	24084		36	0.695		HGNC	p.S364N		SHROOM1		SNV							ENST00000319854	protein_coding	getma.org/?cm=var&var=hg19,5,132160457,C,T&fts=all		hmmpanther:PTHR15012		S/N		T	neutral	1896/4019		getma.org/?cm=msa&ty=f&p=SHRM1_HUMAN&rb=255&re=454&var=S364N	tolerated(0.06)	C9JXU1_HUMAN			YES	SHROOM1,missense_variant,p.Ser364Asn,ENST00000378679,NM_001172700.1;SHROOM1,missense_variant,p.Ser364Asn,ENST00000319854,NM_133456.2;SHROOM1,intron_variant,,ENST00000378676,;SHROOM1,downstream_gene_variant,,ENST00000440118,;SHROOM1,upstream_gene_variant,,ENST00000488072,;SHROOM1,upstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;							MODERATE	1091/2559	S364N	SHRM1_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000367950		CCDS54902.1			1	
RARS	0	LGGM	GRCh37	5	167921589	167921589	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	49	20	.	.	ENST00000231572.3:c.513A>G	p.Val171=	p.V171=	ENST00000231572	NM_002887.3	171	gtA/gtG	0	1	1	UPI0000136648	0		ENST00000231572		ENSG00000113643	9870		69			HGNC	p.V171V	rs367588529	RARS		SNV	G:0						ENST00000231572	protein_coding			Superfamily_domains:SSF55190,TIGRFAM_domain:TIGR00456,Gene3D:3.30.1360.70,hmmpanther:PTHR11956:SF1,hmmpanther:PTHR11956,HAMAP:MF_00123		V	G:0.0001	G		567/2146				F5H3T8_HUMAN			YES	RARS,synonymous_variant,p.=,ENST00000231572,NM_002887.3;RARS,5_prime_UTR_variant,,ENST00000538719,;RARS,upstream_gene_variant,,ENST00000520421,;RARS,3_prime_UTR_variant,,ENST00000520013,;RARS,3_prime_UTR_variant,,ENST00000522834,;RARS,non_coding_transcript_exon_variant,,ENST00000519346,;RARS,non_coding_transcript_exon_variant,,ENST00000521939,;RARS,downstream_gene_variant,,ENST00000524082,;RARS,downstream_gene_variant,,ENST00000521329,;RARS,upstream_gene_variant,,ENST00000518757,;							LOW	513/1983		SYRC_HUMAN			Transcript			.	ENSP00000231572		CCDS4367.1			1	
NPY5R	0	LGGM	GRCh37	4	164271808	164271808	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	77	20	.	.	ENST00000515560.1:c.383C>T	p.Ser128Leu	p.S128L	ENST00000515560		128	tCa/tTa	0	1		UPI000000D9D7	0	getma.org/pdb.php?prot=NPY5R_HUMAN&from=58&to=425&var=S128L	ENST00000338566		ENSG00000164129	7958		97	3.66		HGNC	p.S128L	COSM3601578	NPY5R		SNV						1	ENST00000506953	protein_coding	getma.org/?cm=var&var=hg19,4,164271808,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01012,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF167,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/L		T	high	565/1843		getma.org/?cm=msa&ty=f&p=NPY5R_HUMAN&rb=58&re=425&var=S128L	deleterious(0)					NPY5R,missense_variant,p.Ser128Leu,ENST00000515560,;NPY5R,missense_variant,p.Ser128Leu,ENST00000338566,NM_006174.2;NPY5R,missense_variant,p.Ser128Leu,ENST00000506953,;					1		MODERATE	383/1338	S128L	NPY5R_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339377		CCDS3804.1			1	
KCNU1	0	LGGM	GRCh37	8	36663786	36663786	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	88	21	.	.	ENST00000399881.3:c.469-1G>A		p.X157_splice	ENST00000399881	NM_001031836.2			0	1	1	UPI0000F079EF	0		ENST00000399881		ENSG00000215262	18867		109			HGNC	-		KCNU1		SNV							ENST00000523973	protein_coding							A		-/3695							YES	KCNU1,splice_acceptor_variant,,ENST00000399881,NM_001031836.2;KCNU1,splice_acceptor_variant,,ENST00000523973,;KCNU1,splice_acceptor_variant,,ENST00000522372,;KCNU1,splice_acceptor_variant,,ENST00000522417,;							HIGH	469/3450		KCNU1_HUMAN			Transcript			.	ENSP00000382770		CCDS55220.1			1	
AKR1D1	0	LGGM	GRCh37	7	137792251	137792251	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	50	21	.	.	ENST00000242375.3:c.780G>A	p.Leu260=	p.L260=	ENST00000242375	NM_005989.3	260	ttG/ttA	0	1	1	UPI0000125764	0		ENST00000242375		ENSG00000122787	388		71			HGNC	p.L260L		AKR1D1		SNV			1				ENST00000242375	protein_coding			hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069		L		A		822/2347				C4PL35_HUMAN			YES	AKR1D1,synonymous_variant,p.=,ENST00000242375,NM_005989.3;AKR1D1,synonymous_variant,p.=,ENST00000411726,NM_001190906.1;AKR1D1,synonymous_variant,p.=,ENST00000432161,NM_001190907.1;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;							LOW	780/981		AK1D1_HUMAN			Transcript			.	ENSP00000242375		CCDS5846.1			1	
PLXNA2	0	LGGM	GRCh37	1	208212986	208212986	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	24	22	.	.	ENST00000367033.3:c.4480C>T	p.Gln1494Ter	p.Q1494*	ENST00000367033	NM_025179.3	1494	Cag/Tag	0	1	1	UPI000022B239	0	NA	ENST00000367033		ENSG00000076356	9100		46	0		HGNC	p.Q1494X		PLXNA2		SNV							ENST00000367033	protein_coding	getma.org/?cm=var&var=hg19,1,208212986,G,A&fts=all		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF08337		Q/*		A	NA	5238/11444		NA					YES	PLXNA2,stop_gained,p.Gln1494Ter,ENST00000367033,NM_025179.3;PLXNA2,non_coding_transcript_exon_variant,,ENST00000463510,;							HIGH	4480/5685	Q1494*	PLXA2_HUMAN			Transcript			.	ENSP00000356000		CCDS31013.1			1	
CDH18	0	LGGM	GRCh37	5	19483441	19483441	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	33	22	.	.	ENST00000507958.1:c.1851C>T	p.Ile617=	p.I617=	ENST00000507958		617	atC/atT	0	1		UPI0000126DBD	0		ENST00000274170		ENSG00000145526	1757		55			HGNC	p.I617I		CDH18		SNV							ENST00000382275	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027		I		A		2363/2885								CDH18,synonymous_variant,p.=,ENST00000507958,;CDH18,synonymous_variant,p.=,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,synonymous_variant,p.=,ENST00000274170,;CDH18,3_prime_UTR_variant,,ENST00000506372,;CDH18,3_prime_UTR_variant,,ENST00000502796,;CDH18,3_prime_UTR_variant,,ENST00000515257,;CDH18,upstream_gene_variant,,ENST00000510297,;							LOW	1851/2373		CAD18_HUMAN			Transcript			.	ENSP00000274170		CCDS3889.1			1	
MEIS2	0	LGGM	GRCh37	15	37376016	37376016	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	63	22	.	.	ENST00000561208.1:c.710G>T	p.Ser237Ile	p.S237I	ENST00000561208		237	aGt/aTt	0	1	1	UPI000012EEBC	0	NA	ENST00000561208		ENSG00000134138	7001		85	2.16		HGNC	p.S149I		MEIS2		SNV			1				ENST00000397620	protein_coding	getma.org/?cm=var&var=hg19,15,37376016,C,A&fts=all		hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850		S/I		A	medium	1129/4818		getma.org/?cm=msa&ty=f&p=MEIS2_HUMAN&rb=201&re=293&var=S237I	deleterious(0.03)	H0YKN2_HUMAN,H0YKE5_HUMAN			YES	MEIS2,missense_variant,p.Ser237Ile,ENST00000338564,NM_001220482.1;MEIS2,missense_variant,p.Ser237Ile,ENST00000561208,;MEIS2,missense_variant,p.Ser237Ile,ENST00000444725,NM_170677.4,NM_170674.4;MEIS2,missense_variant,p.Ser237Ile,ENST00000382766,NM_170676.4,NM_170675.4;MEIS2,missense_variant,p.Ser224Ile,ENST00000340545,NM_002399.3;MEIS2,missense_variant,p.Ser237Ile,ENST00000424352,;MEIS2,missense_variant,p.Ser149Ile,ENST00000397624,;MEIS2,missense_variant,p.Ser224Ile,ENST00000557796,;MEIS2,missense_variant,p.Ser224Ile,ENST00000559085,NM_172315.2;MEIS2,missense_variant,p.Ser91Ile,ENST00000219869,;MEIS2,missense_variant,p.Ser149Ile,ENST00000397620,NM_172316.2;MEIS2,missense_variant,p.Ser237Ile,ENST00000559561,;MEIS2,missense_variant,p.Ser96Ile,ENST00000607277,;MEIS2,missense_variant,p.Ser91Ile,ENST00000560617,;MEIS2,missense_variant,p.Ser91Ile,ENST00000560697,;MEIS2,missense_variant,p.Ser87Ile,ENST00000606653,;MEIS2,missense_variant,p.Ser237Ile,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561163,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561422,;							MODERATE	710/1434	S237I	MEIS2_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000453793		CCDS10044.1			1	
MYO18A	0	LGGM	GRCh37	17	27409418	27409418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	24	22	.	.	ENST00000527372.1:c.5936G>T	p.Arg1979Leu	p.R1979L	ENST00000527372	NM_078471.3	1979	cGt/cTt	0	1	1	UPI0000167F32	0	NA	ENST00000527372		ENSG00000196535	31104		46	0.805		HGNC	p.R1964L		MYO18A		SNV							ENST00000531253	protein_coding	getma.org/?cm=var&var=hg19,17,27409418,C,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293		R/L		A	low	6117/7597		getma.org/?cm=msa&ty=f&p=MY18A_HUMAN&rb=1971&re=2004&var=R1979L	deleterious(0.01)				YES	MYO18A,missense_variant,p.Arg1979Leu,ENST00000527372,NM_078471.3;MYO18A,missense_variant,p.Arg1979Leu,ENST00000354329,;MYO18A,missense_variant,p.Arg1927Leu,ENST00000533112,;MYO18A,missense_variant,p.Arg1964Leu,ENST00000531253,NM_203318.1;TIAF1,5_prime_UTR_variant,,ENST00000408971,;TIAF1,upstream_gene_variant,,ENST00000359450,NM_004740.3;MYO18A,non_coding_transcript_exon_variant,,ENST00000529578,;MYO18A,non_coding_transcript_exon_variant,,ENST00000546105,;MYO18A,downstream_gene_variant,,ENST00000531892,;MYO18A,upstream_gene_variant,,ENST00000532867,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,non_coding_transcript_exon_variant,,ENST00000527312,;MYO18A,non_coding_transcript_exon_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000529889,;							MODERATE	5936/6165	R1979L	MY18A_HUMAN			Transcript		possibly_damaging(0.53)	.	ENSP00000437073		CCDS45642.1			1	
TOMM70A	0	LGGM	GRCh37	3	100093903	100093903	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	52	23	.	.	ENST00000284320.5:c.1186A>G	p.Ile396Val	p.I396V	ENST00000284320	NM_014820.4	396	Atc/Gtc	0	1	1	UPI0000000C55	0	getma.org/pdb.php?prot=TOM70_HUMAN&from=365&to=432&var=I396V	ENST00000284320		ENSG00000154174	11985		75	1.65		HGNC	p.I396V	rs767798979	TOMM70A		SNV							ENST00000284320	protein_coding	getma.org/?cm=var&var=hg19,3,100093903,T,C&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF178,SMART_domains:SM00028,Superfamily_domains:SSF48452		I/V		C	low	1635/4409	3.00E-05	getma.org/?cm=msa&ty=f&p=TOM70_HUMAN&rb=365&re=432&var=I396V	tolerated(0.31)	B4DZ87_HUMAN,B3KQK5_HUMAN,B3KQK0_HUMAN			YES	TOMM70A,missense_variant,p.Ile396Val,ENST00000284320,NM_014820.4;TOMM70A,upstream_gene_variant,,ENST00000483945,;TOMM70A,downstream_gene_variant,,ENST00000492171,;							MODERATE	1186/1827	I396V	TOM70_HUMAN			Transcript		benign(0.047)	.	ENSP00000284320	1.65E-05	CCDS33807.1			1	
PPAPDC2	0	LGGM	GRCh37	9	4663233	4663233	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	48	23	.	.	ENST00000381883.2:c.858G>A	p.Pro286=	p.P286=	ENST00000381883	NM_203453.3	286	ccG/ccA	0	1	1	UPI00000529F4	0		ENST00000381883		ENSG00000205808	23682		71			HGNC	p.P286P		PPAPDC2		SNV							ENST00000381883	protein_coding			hmmpanther:PTHR14969:SF18,hmmpanther:PTHR14969		P		A		936/2959							YES	PPAPDC2,synonymous_variant,p.=,ENST00000381883,NM_203453.3;SPATA6L,intron_variant,,ENST00000454239,;SPATA6L,intron_variant,,ENST00000381895,;SPATA6L,intron_variant,,ENST00000475086,NM_001039395.3;SPATA6L,intron_variant,,ENST00000381890,;SPATA6L,non_coding_transcript_exon_variant,,ENST00000497383,;SPATA6L,intron_variant,,ENST00000223517,;SPATA6L,intron_variant,,ENST00000496798,;SPATA6L,intron_variant,,ENST00000498087,;SPATA6L,intron_variant,,ENST00000485981,;SPATA6L,intron_variant,,ENST00000451763,;SPATA6L,intron_variant,,ENST00000485616,;SPATA6L,intron_variant,,ENST00000406861,;SPATA6L,intron_variant,,ENST00000486047,;SPATA6L,intron_variant,,ENST00000461761,;SPATA6L,intron_variant,,ENST00000471669,;							LOW	858/888		PPAC2_HUMAN			Transcript			.	ENSP00000371307		CCDS34981.1			1	
TDRD9	0	LGGM	GRCh37	14	104472732	104472732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	78	24	.	.	ENST00000409874.4:c.1720G>A	p.Ala574Thr	p.A574T	ENST00000409874	NM_153046.2	574	Gca/Aca	0	1	1	UPI0001642306	0	NA	ENST00000409874		ENSG00000156414	20122		102	3.9		HGNC	p.A574T		TDRD9		SNV							ENST00000339063	protein_coding	getma.org/?cm=var&var=hg19,14,104472732,G,A&fts=all		Pfam_domain:PF04408,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80,SMART_domains:SM00847,Superfamily_domains:SSF52540		A/T		A	high	1768/4782		getma.org/?cm=msa&ty=f&p=TDRD9_HUMAN&rb=564&re=665&var=A574T	deleterious(0)				YES	TDRD9,missense_variant,p.Ala574Thr,ENST00000409874,NM_153046.2;TDRD9,missense_variant,p.Ala574Thr,ENST00000339063,;TDRD9,missense_variant,p.Ala301Thr,ENST00000557332,;TDRD9,non_coding_transcript_exon_variant,,ENST00000466378,;							MODERATE	1720/4149	A574T	TDRD9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000387303		CCDS9987.2			1	
TRAV18	0	LGGM	GRCh37	14	22471724	22471724	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	32	26	.	.	ENST00000390446.3:c.147A>G	p.Ser49=	p.S49=	ENST00000390446		49	tcA/tcG	0	1	1	UPI0000F3034E	0		ENST00000390446		ENSG00000211798	12114		58			HGNC	p.S49S		TRAV18		SNV							ENST00000390446	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF136,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		S		G		252/440							YES	TRAV18,synonymous_variant,p.=,ENST00000390446,;TRAV19,upstream_gene_variant,,ENST00000390447,;							LOW	147/335					Transcript			.	ENSP00000451574					1	
HP	0	LGGM	GRCh37	16	72094166	72094166	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	29	27	.	.	ENST00000355906.5:c.598A>G	p.Thr200Ala	p.T200A	ENST00000355906	NM_005143.3	200	Acg/Gcg	0	1	1	UPI000012CB71	0	getma.org/pdb.php?prot=HPT_HUMAN&from=162&to=399&var=T200A	ENST00000355906		ENSG00000257017	5141		56	-2.63		HGNC	p.T141A		HP		SNV			1				ENST00000570083	protein_coding	getma.org/?cm=var&var=hg19,16,72094166,A,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF25,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494,Prints_domain:PR00722		T/A		G	neutral	656/1443		getma.org/?cm=msa&ty=f&p=HPT_HUMAN&rb=162&re=399&var=T200A	tolerated(1)	Q6PEJ8_HUMAN			YES	HP,missense_variant,p.Thr236Ala,ENST00000357763,;HP,missense_variant,p.Thr200Ala,ENST00000355906,NM_005143.3;HP,missense_variant,p.Thr141Ala,ENST00000570083,;HP,missense_variant,p.Thr141Ala,ENST00000398131,NM_001126102.1;HP,missense_variant,p.Thr198Ala,ENST00000567185,;HP,missense_variant,p.Thr159Ala,ENST00000567612,;HP,missense_variant,p.Thr141Ala,ENST00000565574,;HP,missense_variant,p.Thr101Ala,ENST00000564499,;HPR,intron_variant,,ENST00000356967,;HP,intron_variant,,ENST00000562526,;TXNL4B,intron_variant,,ENST00000562153,;HPR,upstream_gene_variant,,ENST00000540303,NM_020995.3;HP,downstream_gene_variant,,ENST00000576168,;HPR,upstream_gene_variant,,ENST00000561690,;HP,downstream_gene_variant,,ENST00000569639,;HP,downstream_gene_variant,,ENST00000568417,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,downstream_gene_variant,,ENST00000565807,;HP,downstream_gene_variant,,ENST00000561927,;HPR,upstream_gene_variant,,ENST00000566168,;HP,downstream_gene_variant,,ENST00000562488,;							MODERATE	598/1221	T200A	HPT_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000348170		CCDS45524.1			1	
RYK	0	LGGM	GRCh37	3	133930425	133930425	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	54	29	.	.	ENST00000296084.4:c.375G>T	p.Val125=	p.V125=	ENST00000296084	NM_001005861.2	125	gtG/gtT	0	1	1	UPI00015E08D8	0		ENST00000296084		ENSG00000163785	10481		83			HGNC	p.V125V		RYK		SNV							ENST00000296084	protein_coding			PROSITE_profiles:PS50814,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF256,Pfam_domain:PF02019,SMART_domains:SM00469		V		A		375/2846				Q8WTZ8_HUMAN,F5H8L5_HUMAN			YES	RYK,synonymous_variant,p.=,ENST00000296084,NM_001005861.2,NM_002958.3;RYK,synonymous_variant,p.=,ENST00000460933,;RYK,5_prime_UTR_variant,,ENST00000427044,;RYK,upstream_gene_variant,,ENST00000464879,;							LOW	375/1827		RYK_HUMAN			Transcript			.	ENSP00000296084					1	
API5	0	LGGM	GRCh37	11	43357551	43357551	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	47	30	.	.	ENST00000531273.1:c.1492+7G>A		p.X498_splice	ENST00000531273				0	1	1	UPI0000E229DE	0		ENST00000531273		ENSG00000166181	594		77			HGNC	p.R500H	rs769164825	API5		SNV							ENST00000534600	protein_coding							A		-/1868							YES	API5,missense_variant,p.Arg500His,ENST00000534600,;API5,splice_region_variant,,ENST00000378852,NM_006595.3,NM_001142930.1;API5,splice_region_variant,,ENST00000455725,;API5,splice_region_variant,,ENST00000420461,NM_001142931.1;API5,splice_region_variant,,ENST00000531273,;API5,intron_variant,,ENST00000534695,;API5,downstream_gene_variant,,ENST00000526394,;RP11-484D2.2,intron_variant,,ENST00000526220,;Y_RNA,downstream_gene_variant,,ENST00000516843,;API5,splice_region_variant,,ENST00000529334,;API5,non_coding_transcript_exon_variant,,ENST00000529932,;API5,non_coding_transcript_exon_variant,,ENST00000532267,;							LOW	-/1575		API5_HUMAN			Transcript			.	ENSP00000431391		CCDS44572.1			1	
PAPPA2	0	LGGM	GRCh37	1	176668525	176668525	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	131	31	.	.	ENST00000367662.3:c.3036C>T	p.His1012=	p.H1012=	ENST00000367662	NM_020318.2	1012	caC/caT	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		162			HGNC	p.H1012H		PAPPA2		SNV							ENST00000367662	protein_coding			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349		H		T		4200/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;							LOW	3036/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
ARHGAP5	0	LGGM	GRCh37	14	32562783	32562783	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	36	32	.	.	ENST00000345122.3:c.2908A>T	p.Arg970Ter	p.R970*	ENST00000345122	NM_001030055.1	970	Aga/Tga	0	1	1	UPI000057B85C	0	NA	ENST00000345122		ENSG00000100852	675		68	0		HGNC	p.R970X		ARHGAP5		SNV							ENST00000345122	protein_coding	getma.org/?cm=var&var=hg19,14,32562783,A,T&fts=all		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4		R/*		T	NA	3223/9604		NA		G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN			YES	ARHGAP5,stop_gained,p.Arg970Ter,ENST00000345122,NM_001030055.1;ARHGAP5,stop_gained,p.Arg970Ter,ENST00000432921,NM_001173.2;ARHGAP5,stop_gained,p.Arg970Ter,ENST00000539826,;ARHGAP5,stop_gained,p.Arg970Ter,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,;							HIGH	2908/4509	R970*	RHG05_HUMAN			Transcript			.	ENSP00000371897		CCDS32062.1			1	
SLC38A1	0	LGGM	GRCh37	12	46582830	46582830	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	52	33	.	.	ENST00000398637.5:c.1387G>T	p.Val463Leu	p.V463L	ENST00000398637	NM_030674.3	463	Gtg/Ttg	0	1	1	UPI000004D33C	0	NA	ENST00000398637		ENSG00000111371	13447		85	1.15		HGNC	p.V463L		SLC38A1		SNV							ENST00000546893	protein_coding	getma.org/?cm=var&var=hg19,12,46582830,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF184,hmmpanther:PTHR22950,Pfam_domain:PF01490		V/L		A	low	2082/8066		getma.org/?cm=msa&ty=f&p=S38A1_HUMAN&rb=69&re=475&var=V463L	tolerated(0.21)	Q8NCD8_HUMAN,F8VX12_HUMAN			YES	SLC38A1,missense_variant,p.Val463Leu,ENST00000398637,NM_030674.3,NM_001278389.1,NM_001077484.1;SLC38A1,missense_variant,p.Val463Leu,ENST00000439706,NM_001278387.1;SLC38A1,missense_variant,p.Val463Leu,ENST00000549049,NM_001278388.1;SLC38A1,missense_variant,p.Val463Leu,ENST00000546893,;							MODERATE	1387/1464	V463L	S38A1_HUMAN			Transcript		benign(0.018)	.	ENSP00000381634		CCDS41774.1			1	
MFAP1	0	LGGM	GRCh37	15	44105323	44105323	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	62	36	.	.	ENST00000267812.3:c.749A>G	p.Lys250Arg	p.K250R	ENST00000267812	NM_005926.2	250	aAa/aGa	0	1	1	UPI000013D770	0	NA	ENST00000267812		ENSG00000140259	7032		98	1.44		HGNC	p.K250R		MFAP1		SNV							ENST00000267812	protein_coding	getma.org/?cm=var&var=hg19,15,44105323,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15327,hmmpanther:PTHR15327:SF0,Pfam_domain:PF06991		K/R		C	low	982/2155		getma.org/?cm=msa&ty=f&p=MFAP1_HUMAN&rb=163&re=436&var=K250R	tolerated(0.25)				YES	MFAP1,missense_variant,p.Lys250Arg,ENST00000267812,NM_005926.2;MFAP1,upstream_gene_variant,,ENST00000484386,;							MODERATE	749/1320	K250R	MFAP1_HUMAN			Transcript		benign(0.086)	.	ENSP00000267812		CCDS10105.1			1	
OR4K2	0	LGGM	GRCh37	14	20345116	20345116	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	308	38	.	.	ENST00000298642.2:c.690C>T	p.Ser230=	p.S230=	ENST00000298642	NM_001005501.1	230	tcC/tcT	0	1	1	UPI0000041B4D	0		ENST00000298642		ENSG00000165762	14728		346			HGNC	p.S230S		OR4K2		SNV							ENST00000298642	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		S		T		726/1078							YES	OR4K2,synonymous_variant,p.=,ENST00000298642,NM_001005501.1;							LOW	690/945		OR4K2_HUMAN			Transcript			.	ENSP00000298642		CCDS32023.1			1	
OR4K2	0	LGGM	GRCh37	14	20345115	20345115	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080530	H080530N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	305	38	.	.	ENST00000298642.2:c.689C>A	p.Ser230Tyr	p.S230Y	ENST00000298642	NM_001005501.1	230	tCc/tAc	0	1	1	UPI0000041B4D	0	NA	ENST00000298642		ENSG00000165762	14728		343	2.555		HGNC	p.S230Y		OR4K2		SNV							ENST00000298642	protein_coding	getma.org/?cm=var&var=hg19,14,20345115,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF260,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		S/Y		A	medium	725/1078		getma.org/?cm=msa&ty=f&p=OR4K2_HUMAN&rb=139&re=280&var=S230Y	deleterious(0)				YES	OR4K2,missense_variant,p.Ser230Tyr,ENST00000298642,NM_001005501.1;							MODERATE	689/945	S230Y	OR4K2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000298642		CCDS32023.1			1	
FGA	0	LGGM	GRCh37	4	155507575	155507575	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	81	39	.	.	ENST00000302053.3:c.1006T>A	p.Ser336Thr	p.S336T	ENST00000302053	NM_000508.3	336	Tct/Act	0	1	1	UPI000012A75A	0	NA	ENST00000302053		ENSG00000171560	3661		120	0.425		HGNC	p.S336T		FGA		SNV			1				ENST00000302053	protein_coding	getma.org/?cm=var&var=hg19,4,155507575,A,T&fts=all		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,Low_complexity_(Seg):seg		S/T		T	neutral	1085/3678		getma.org/?cm=msa&ty=f&p=FIBA_HUMAN&rb=195&re=394&var=S336T	tolerated_low_confidence(0.31)	Q86Z09_HUMAN			YES	FGA,missense_variant,p.Ser336Thr,ENST00000302053,NM_000508.3;FGA,missense_variant,p.Ser336Thr,ENST00000403106,NM_021871.2;							MODERATE	1006/2601	S336T	FIBA_HUMAN			Transcript		benign(0.004)	.	ENSP00000306361		CCDS3787.1			1	
ZNF845	0	LGGM	GRCh37	19	53848783	53848783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	142	40	.	.	ENST00000458035.1:c.40G>A	p.Ala14Thr	p.A14T	ENST00000458035	NM_138374.1	14	Gcc/Acc	0	1	1	UPI0001662BAC	0	getma.org/pdb.php?prot=ZN845_HUMAN&from=8&to=48&var=A14T	ENST00000458035		ENSG00000213799	25112		182	1.905		HGNC	p.A14T		ZNF845		SNV							ENST00000595091	protein_coding	getma.org/?cm=var&var=hg19,19,53848783,G,A&fts=all		Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF22,PROSITE_profiles:PS50805		A/T		A	medium	157/4311		getma.org/?cm=msa&ty=f&p=ZN845_HUMAN&rb=8&re=48&var=A14T	deleterious(0.02)	M0R2N3_HUMAN,M0R0Z8_HUMAN			YES	ZNF845,missense_variant,p.Ala14Thr,ENST00000458035,NM_138374.1;ZNF845,missense_variant,p.Ala14Thr,ENST00000595091,;ZNF845,missense_variant,p.Ala14Thr,ENST00000601857,;							MODERATE	40/2913	A14T	ZN845_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000388311		CCDS46170.1			1	
TM7SF2	0	LGGM	GRCh37	11	64881010	64881010	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	60	44	.	.	ENST00000279263.7:c.547A>T	p.Ile183Phe	p.I183F	ENST00000279263	NM_003273.3	183	Atc/Ttc	0	1	1	UPI000013DBC4	0	NA	ENST00000279263		ENSG00000149809	11863		104	1.465		HGNC	p.I172F		TM7SF2		SNV							ENST00000529414	protein_coding	getma.org/?cm=var&var=hg19,11,64881010,A,T&fts=all		hmmpanther:PTHR21257,Pfam_domain:PF01222		I/F		T	low	709/1722		getma.org/?cm=msa&ty=f&p=ERG24_HUMAN&rb=43&re=418&var=I183F	tolerated(0.07)	F5GYV3_HUMAN,E9PRQ1_HUMAN,E9PLI3_HUMAN			YES	TM7SF2,missense_variant,p.Ile183Phe,ENST00000279263,NM_003273.3;TM7SF2,missense_variant,p.Ile67Phe,ENST00000540748,;TM7SF2,missense_variant,p.Ile183Phe,ENST00000345348,NM_001277233.1;TM7SF2,missense_variant,p.Ile154Phe,ENST00000525385,;TM7SF2,missense_variant,p.Ile89Phe,ENST00000531321,;TM7SF2,missense_variant,p.Ile115Phe,ENST00000534371,;TM7SF2,missense_variant,p.Ile172Phe,ENST00000529414,;TM7SF2,missense_variant,p.Ile154Phe,ENST00000524986,;TM7SF2,missense_variant,p.Ile11Phe,ENST00000528802,;TM7SF2,missense_variant,p.Ile34Phe,ENST00000526085,;TM7SF2,missense_variant,p.Ile15Phe,ENST00000527968,;TM7SF2,intron_variant,,ENST00000526809,;VPS51,downstream_gene_variant,,ENST00000279281,NM_013265.3;ZNHIT2,downstream_gene_variant,,ENST00000310597,NM_014205.2;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000530673,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000530750,;AP003068.9,upstream_gene_variant,,ENST00000528887,;AP003068.12,upstream_gene_variant,,ENST00000527789,;TM7SF2,intron_variant,,ENST00000531029,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,downstream_gene_variant,,ENST00000533646,;TM7SF2,3_prime_UTR_variant,,ENST00000529601,;TM7SF2,3_prime_UTR_variant,,ENST00000524690,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530650,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533766,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000527851,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000529233,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000532328,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000534667,;TM7SF2,intron_variant,,ENST00000529292,;TM7SF2,intron_variant,,ENST00000528026,;VPS51,downstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;TM7SF2,downstream_gene_variant,,ENST00000530892,;VPS51,downstream_gene_variant,,ENST00000531146,;							MODERATE	547/1257	I183F	ERG24_HUMAN			Transcript		benign(0.068)	.	ENSP00000279263		CCDS41669.1			1	
WNK1	0	LGGM	GRCh37	12	978079	978079	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	84	49	.	.	ENST00000315939.6:c.2140-2352G>T		*714*	ENST00000315939	NM_018979.3			0	1	1	UPI000013CD65	0		ENST00000315939		ENSG00000060237	14540		133			HGNC	p.D1063Y		WNK1		SNV			1				ENST00000537687	protein_coding							T		-/10452				Q96CZ6_HUMAN			YES	WNK1,missense_variant,p.Asp1063Tyr,ENST00000537687,NM_001184985.1,NM_213655.4;WNK1,missense_variant,p.Asp1148Tyr,ENST00000530271,;WNK1,missense_variant,p.Asp362Tyr,ENST00000574564,;WNK1,missense_variant,p.Asp116Tyr,ENST00000574679,;WNK1,intron_variant,,ENST00000315939,NM_018979.3;WNK1,intron_variant,,ENST00000535572,NM_014823.2;WNK1,intron_variant,,ENST00000340908,;WNK1,intron_variant,,ENST00000535698,;WNK1,intron_variant,,ENST00000544965,;WNK1,intron_variant,,ENST00000545285,;							MODIFIER	-/7149		WNK1_HUMAN			Transcript			.	ENSP00000313059		CCDS8506.1			1	
CNKSR2	0	LGGM	GRCh37	X	21450861	21450861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	16	49	.	.	ENST00000379510.3:c.360G>T	p.Leu120Phe	p.L120F	ENST00000379510	NM_014927.3	120	ttG/ttT	0	1	1	UPI0000070D72	0	NA	ENST00000379510		ENSG00000149970	19701		65	1.67		HGNC	p.L120F		CNKSR2		SNV			1				ENST00000279451	protein_coding	getma.org/?cm=var&var=hg19,X,21450861,G,T&fts=all		PROSITE_profiles:PS51290,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Pfam_domain:PF10534		L/F		T	low	396/5315		getma.org/?cm=msa&ty=f&p=CNKR2_HUMAN&rb=84&re=178&var=L120F	tolerated(0.11)				YES	CNKSR2,missense_variant,p.Leu120Phe,ENST00000425654,NM_001168647.1;CNKSR2,missense_variant,p.Leu120Phe,ENST00000379510,NM_014927.3;CNKSR2,missense_variant,p.Leu120Phe,ENST00000279451,NM_001168648.1;CNKSR2,missense_variant,p.Leu120Phe,ENST00000543067,NM_001168649.1;CNKSR2,non_coding_transcript_exon_variant,,ENST00000480138,;							MODERATE	360/3105	L120F	CNKR2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000368824		CCDS14198.1			1	
ERCC6L2	0	LGGM	GRCh37	9	98775153	98775153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	100	52	.	.	ENST00000320486.5:c.1236G>T	p.Asp413Tyr	p.D413Y	ENST00000320486		413	Gat/Tat	0	1	1	UPI0001610CA1	0		ENST00000320486		ENSG00000182150	26922		152			HGNC	p.D422Y		ERCC6L2		SNV			1				ENST00000407474	protein_coding					D/Y		T		1236/2925			deleterious(0)					ERCC6L2,missense_variant,p.Asp413Tyr,ENST00000320486,;ERCC6L2,missense_variant,p.Asp422Tyr,ENST00000407474,;							MODERATE	1237/1569					Transcript		probably_damaging(1)	.	ENSP00000320939					1	
TSHB	0	LGGM	GRCh37	1	115576720	115576720	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080530	H080530N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	75	52	.	.	ENST00000256592.1:c.289T>A	p.Tyr97Asn	p.Y97N	ENST00000256592	NM_000549.4	97	Tat/Aat	0	1	1	UPI000013CF15	0	getma.org/pdb.php?prot=TSHB_HUMAN&from=19&to=125&var=Y97N	ENST00000256592		ENSG00000134200	12372		127	3.805		HGNC	p.Y97N		TSHB		SNV			1				ENST00000369517	protein_coding	getma.org/?cm=var&var=hg19,1,115576720,T,A&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF00007,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF5,SMART_domains:SM00068,Superfamily_domains:SSF57501		Y/N		A	high	357/578		getma.org/?cm=msa&ty=f&p=TSHB_HUMAN&rb=19&re=125&var=Y97N	deleterious(0)				YES	TSHB,missense_variant,p.Tyr97Asn,ENST00000256592,NM_000549.4,NM_001277991.1;TSHB,missense_variant,p.Tyr97Asn,ENST00000369517,;							MODERATE	289/417	Y97N	TSHB_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000256592		CCDS880.1			1	
ERCC6L2	0	LGGM	GRCh37	9	98775150	98775150	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	101	53	.	.	ENST00000320486.5:c.1233G>T	p.Gly412Cys	p.G412C	ENST00000320486		412	Ggt/Tgt	0	1	1	UPI0001610CA1	0		ENST00000320486		ENSG00000182150	26922		154			HGNC	p.G421C		ERCC6L2		SNV			1				ENST00000407474	protein_coding					G/C		T		1233/2925			deleterious(0)					ERCC6L2,missense_variant,p.Gly412Cys,ENST00000320486,;ERCC6L2,missense_variant,p.Gly421Cys,ENST00000407474,;							MODERATE	1234/1569					Transcript		probably_damaging(1)	.	ENSP00000320939					1	
PRUNE2	0	LGGM	GRCh37	9	79320606	79320606	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	70	59	.	.	ENST00000376718.3:c.6584T>C	p.Ile2195Thr	p.I2195T	ENST00000376718	NM_015225.2	2195	aTa/aCa	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		129	1.7		HGNC	p.I2195T		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79320606,A,G&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		I/T		G	low	6708/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1192&re=2780&var=I2195T	tolerated(0.16)				YES	PRUNE2,missense_variant,p.Ile1836Thr,ENST00000428286,;PRUNE2,missense_variant,p.Ile2195Thr,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Ile1517Thr,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							MODERATE	6584/9267	I2195T	PRUN2_HUMAN			Transcript		benign(0.01)	.	ENSP00000365908		CCDS47982.1			1	
HMCN1	0	LGGM	GRCh37	1	185931771	185931771	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080530	H080530N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	38	60	.	.	ENST00000271588.4:c.1950G>T	p.Met650Ile	p.M650I	ENST00000271588	NM_031935.2	650	atG/atT	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=612&to=697&var=M650I	ENST00000271588		ENSG00000143341	19194		98	-0.565		HGNC	p.M650I		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185931771,G,T&fts=all		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		M/I		T	neutral	2179/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=612&re=697&var=M650I					YES	HMCN1,missense_variant,p.Met650Ile,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Met650Ile,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,upstream_gene_variant,,ENST00000493413,;							MODERATE	1950/16908	M650I	HMCN1_HUMAN			Transcript		benign(0.01)	.	ENSP00000271588		CCDS30956.1			1	
CR2	0	LGGM	GRCh37	1	207639992	207639992	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	55	61	.	.	ENST00000367057.3:c.180A>G	p.Glu60=	p.E60=	ENST00000367057	NM_001006658.2	60	gaA/gaG	0	1		UPI000013D4F7	0		ENST00000367058		ENSG00000117322	2336		116			HGNC	p.E60E		CR2		SNV			1				ENST00000367059	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		E		G		369/4063								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,non_coding_transcript_exon_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000485707,;CR2,upstream_gene_variant,,ENST00000475194,;							LOW	180/3102		CR2_HUMAN			Transcript			.	ENSP00000356025		CCDS1478.1			1	
EEFSEC	0	LGGM	GRCh37	3	127965715	127965715	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	89	64	.	.	ENST00000254730.6:c.353A>T	p.Asp118Val	p.D118V	ENST00000254730	NM_021937.3	118	gAt/gTt	0	1	1	UPI000013CE58	0	getma.org/pdb.php?prot=SELB_HUMAN&from=5&to=215&var=D118V	ENST00000254730		ENSG00000132394	24614		153	4.115		HGNC	p.D118V		EEFSEC		SNV							ENST00000483457	protein_coding	getma.org/?cm=var&var=hg19,3,127965715,A,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00009,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF106,Superfamily_domains:SSF52540		D/V		T	high	407/2228		getma.org/?cm=msa&ty=f&p=SELB_HUMAN&rb=5&re=215&var=D118V	deleterious(0)				YES	EEFSEC,missense_variant,p.Asp118Val,ENST00000254730,NM_021937.3;EEFSEC,missense_variant,p.Asp118Val,ENST00000483457,;EEFSEC,non_coding_transcript_exon_variant,,ENST00000484438,;							MODERATE	353/1791	D118V	SELB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254730		CCDS33849.1			1	
PCLO	0	LGGM	GRCh37	7	82580227	82580227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080530	H080530N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080530N.bam, H080530T.bam	Illumina HiSeq	131	70	.	.	ENST00000333891.9:c.9677T>A	p.Ile3226Asn	p.I3226N	ENST00000333891	NM_033026.5	3226	aTt/aAt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		201	1.845		HGNC	p.I3226N		PCLO		SNV			1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82580227,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		I/N		T	low	10015/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=I3157N					YES	PCLO,missense_variant,p.Ile3226Asn,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ile3226Asn,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	9677/15429	I3157N	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
GPR114	0	LGGM	GRCh37	16	57608902	57608902	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	5	2	.	.	ENST00000340339.4:c.1384C>A	p.Leu462Ile	p.L462I	ENST00000340339	NM_153837.1	462	Ctc/Atc	0	1	1	UPI0000039944	0	NA	ENST00000340339		ENSG00000159618	19010		7	2.475		HGNC	p.L462I		GPR114		SNV							ENST00000340339	protein_coding	getma.org/?cm=var&var=hg19,16,57608902,C,A&fts=all		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF230,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/I		A	medium	1907/3767		getma.org/?cm=msa&ty=f&p=GP114_HUMAN&rb=245&re=499&var=L462I	deleterious(0)				YES	GPR114,missense_variant,p.Leu462Ile,ENST00000340339,NM_153837.1;GPR114,missense_variant,p.Leu462Ile,ENST00000349457,;GPR114,non_coding_transcript_exon_variant,,ENST00000394361,;GPR114,non_coding_transcript_exon_variant,,ENST00000569839,;GPR114,non_coding_transcript_exon_variant,,ENST00000564607,;							MODERATE	1384/1587	L462I	GP114_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000342981		CCDS10785.1			1	
MACF1	0	LGGM	GRCh37	1	39878623	39878623	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	3	2	.	.	ENST00000530275.1:c.2278G>T	p.Val760Phe	p.V760F	ENST00000530275	NM_015038.1	760	Gtc/Ttc	0	1	1	UPI0000DD78B2	0	NA	ENST00000530275		ENSG00000255103	29111		5	0.895		HGNC	p.V760F		KIAA0754		SNV							ENST00000530275	protein_coding	getma.org/?cm=var&var=hg19,1,39878623,G,T&fts=all				V/F		T	low	2473/6004		getma.org/?cm=msa&ty=f&p=K0754_HUMAN&rb=725&re=793&var=V760F					YES	KIAA0754,missense_variant,p.Val760Phe,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,;							MODERATE	2278/3876	V760F	K0754_HUMAN			Transcript		unknown(0)	.	ENSP00000431179					1	
SORBS1	0	LGGM	GRCh37	10	97096970	97096970	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	11	2	.	.	ENST00000371247.2:c.2947G>T	p.Ala983Ser	p.A983S	ENST00000371247		983	Gct/Tct	0	1		UPI000013D6B7	0	NA	ENST00000361941		ENSG00000095637	14565		13	0.69		HGNC	p.A983S		SORBS1		SNV							ENST00000371247	protein_coding	getma.org/?cm=var&var=hg19,10,97096970,C,A&fts=all		hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF4		A/S		A	neutral	2974/3940		getma.org/?cm=msa&ty=f&p=SRBS1_HUMAN&rb=921&re=995&var=A983S	deleterious_low_confidence(0.02)					SORBS1,missense_variant,p.Ala983Ser,ENST00000371247,;SORBS1,missense_variant,p.Ala937Ser,ENST00000371227,;SORBS1,missense_variant,p.Ala983Ser,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,;							MODERATE	2947/3879	A983S	SRBS1_HUMAN			Transcript		possibly_damaging(0.697)	.	ENSP00000355136		CCDS31255.1			1	
CCDC120	0	LGGM	GRCh37	X	48921494	48921494	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	4	2	.	.	ENST00000422185.2:c.286C>A	p.His96Asn	p.H96N	ENST00000422185	NM_001163322.2	96	Cac/Aac	0	1		UPI000006FB7D	0	NA	ENST00000496529		ENSG00000147144	28910		6	0		HGNC	p.H96N		CCDC120		SNV							ENST00000422185	protein_coding	getma.org/?cm=var&var=hg19,X,48921494,C,A&fts=all		Pfam_domain:PF11819,hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF5,Low_complexity_(Seg):seg		H/N		A	neutral	581/2415		getma.org/?cm=msa&ty=f&p=CC120_HUMAN&rb=1&re=142&var=H96N	tolerated_low_confidence(0.24)	A8K5Q5_HUMAN				CCDC120,missense_variant,p.His96Asn,ENST00000376396,NM_033626.3,NM_001271835.1;CCDC120,missense_variant,p.His96Asn,ENST00000422185,NM_001163322.2,NM_001163321.2,NM_001163323.2;CCDC120,missense_variant,p.His96Asn,ENST00000597275,NM_001271836.1;CCDC120,missense_variant,p.His96Asn,ENST00000496529,;CCDC120,missense_variant,p.His84Asn,ENST00000536628,;CCDC120,missense_variant,p.His131Asn,ENST00000603986,;CCDC120,3_prime_UTR_variant,,ENST00000603906,;CCDC120,upstream_gene_variant,,ENST00000603745,;CCDC120,downstream_gene_variant,,ENST00000482476,;							MODERATE	286/1893	H96N	CC120_HUMAN			Transcript		benign(0.428)	.	ENSP00000474761		CCDS14316.1			1	
GRIN2B	0	LGGM	GRCh37	12	13717040	13717040	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	18	2	.	.	ENST00000609686.1:c.3132C>G	p.Phe1044Leu	p.F1044L	ENST00000609686	NM_000834.3	1044	ttC/ttG	0	1	1	UPI000013026C	0	NA	ENST00000609686		ENSG00000273079	4586		20	0.93		HGNC	p.F1044L		GRIN2B		SNV			1				ENST00000279593	protein_coding	getma.org/?cm=var&var=hg19,12,13717040,G,C&fts=all		Pfam_domain:PF10565		F/L		C	low	3342/27217		getma.org/?cm=msa&ty=f&p=NMDE2_HUMAN&rb=840&re=1484&var=F1044L	tolerated(0.53)	Q59HA9_HUMAN			YES	GRIN2B,missense_variant,p.Phe1044Leu,ENST00000609686,NM_000834.3;							MODERATE	3132/4455	F1044L	NMDE2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000477455		CCDS8662.1			1	
FBN2	0	LGGM	GRCh37	5	127866329	127866329	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	36	3	.	.	ENST00000508053.1:c.395G>T	p.Cys132Phe	p.C132F	ENST00000508053		132	tGt/tTt	0	1		UPI0000519468	0	NA	ENST00000262464		ENSG00000138829	3604		39	2.455		HGNC	p.C132F		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127866329,C,A&fts=all		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19		C/F		A	medium	834/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=111&re=142&var=C132F	deleterious(0)					FBN2,missense_variant,p.Cys132Phe,ENST00000508053,;FBN2,missense_variant,p.Cys132Phe,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Cys132Phe,ENST00000502468,;FBN2,intron_variant,,ENST00000508989,;FBN2,non_coding_transcript_exon_variant,,ENST00000514742,;							MODERATE	395/8739	C132F	FBN2_HUMAN			Transcript		benign(0)	.	ENSP00000262464		CCDS34222.1			1	
RPE	0	LGGM	GRCh37	2	210867500	210867500	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	31	3	.	.	ENST00000359429.6:c.115A>T	p.Met39Leu	p.M39L	ENST00000359429	NM_199229.2	39	Atg/Ttg	0	1	1	UPI0000037A9A	0	getma.org/pdb.php?prot=RPE_HUMAN&from=6&to=204&var=M39L	ENST00000359429		ENSG00000197713	10293		34	3.44		HGNC	p.M39L		RPE		SNV							ENST00000354506	protein_coding	getma.org/?cm=var&var=hg19,2,210867500,A,T&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF00834,PIRSF_domain:PIRSF001461,PROSITE_patterns:PS01085,hmmpanther:PTHR11749,Superfamily_domains:SSF51366,TIGRFAM_domain:TIGR01163		M/L		T	medium	212/2569		getma.org/?cm=msa&ty=f&p=RPE_HUMAN&rb=6&re=204&var=M39L	deleterious(0.01)	C9JPQ7_HUMAN,C9JCL8_HUMAN,C9J6A7_HUMAN			YES	RPE,missense_variant,p.Met39Leu,ENST00000359429,NM_199229.2;RPE,missense_variant,p.Met39Leu,ENST00000354506,;RPE,missense_variant,p.Met39Leu,ENST00000540255,NM_001278285.1;RPE,missense_variant,p.Met39Leu,ENST00000435437,;RPE,missense_variant,p.Met39Leu,ENST00000452025,;RPE,splice_region_variant,,ENST00000411934,;RPE,5_prime_UTR_variant,,ENST00000429921,NM_001278282.1,NM_001278283.1;RPE,5_prime_UTR_variant,,ENST00000454822,NM_006916.2;RPE,5_prime_UTR_variant,,ENST00000436630,;RPE,5_prime_UTR_variant,,ENST00000429907,NM_001278289.1;RPE,5_prime_UTR_variant,,ENST00000438204,;RPE,5_prime_UTR_variant,,ENST00000408981,;RPE,5_prime_UTR_variant,,ENST00000445268,;RPE,5_prime_UTR_variant,,ENST00000438265,;RPE,5_prime_UTR_variant,,ENST00000453724,;RPE,5_prime_UTR_variant,,ENST00000441588,;UNC80,downstream_gene_variant,,ENST00000439458,NM_032504.1;UNC80,downstream_gene_variant,,ENST00000272845,NM_182587.3;RPE,splice_region_variant,,ENST00000438191,;							MODERATE	115/687	M39L	RPE_HUMAN			Transcript		benign(0.408)	.	ENSP00000352401		CCDS2388.1			1	
LAMA4	0	LGGM	GRCh37	6	112508681	112508681	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	31	3	.	.	ENST00000230538.7:c.937G>T	p.Glu313Ter	p.E313*	ENST00000230538	NM_001105206.2	313	Gaa/Taa	0	1	1	UPI000013C937	0	NA	ENST00000230538		ENSG00000112769	6484		34	0		HGNC	p.E306X		LAMA4		SNV			1				ENST00000522006	protein_coding	getma.org/?cm=var&var=hg19,6,112508681,C,A&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF174,Pfam_domain:PF06008		E/*		A	NA	1335/6547		NA		E5RK79_HUMAN,E5RHF3_HUMAN,E5RFQ2_HUMAN,E5RFD7_HUMAN			YES	LAMA4,stop_gained,p.Glu313Ter,ENST00000230538,NM_001105206.2;LAMA4,stop_gained,p.Glu306Ter,ENST00000522006,NM_002290.4,NM_001105207.2;LAMA4,stop_gained,p.Glu306Ter,ENST00000389463,;LAMA4,stop_gained,p.Glu306Ter,ENST00000424408,;LAMA4,stop_gained,p.Glu313Ter,ENST00000521398,;LAMA4,stop_gained,p.Glu126Ter,ENST00000521732,;LAMA4,stop_gained,p.Glu117Ter,ENST00000368640,;LAMA4,downstream_gene_variant,,ENST00000524032,;LAMA4,downstream_gene_variant,,ENST00000518842,;							HIGH	937/5472	E313*	LAMA4_HUMAN			Transcript			.	ENSP00000230538		CCDS43491.1			1	
RFX2	0	LGGM	GRCh37	19	6016197	6016197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	31	3	.	.	ENST00000303657.5:c.683G>T	p.Cys228Phe	p.C228F	ENST00000303657	NM_000635.3	228	tGc/tTc	0	1	1	UPI000013D4B1	0	getma.org/pdb.php?prot=RFX2_HUMAN&from=192&to=264&var=C228F	ENST00000303657		ENSG00000087903	9983		34	3.605		HGNC	p.C228F		RFX2		SNV							ENST00000303657	protein_coding	getma.org/?cm=var&var=hg19,19,6016197,C,A&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF02257,PROSITE_profiles:PS51526,hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20,Superfamily_domains:SSF46785		C/F		A	high	833/3993		getma.org/?cm=msa&ty=f&p=RFX2_HUMAN&rb=192&re=264&var=C228F	deleterious(0)	Q75MR3_HUMAN,K7ES56_HUMAN,K7EQY9_HUMAN,K7EQA0_HUMAN,K7ENC9_HUMAN,K7EJE4_HUMAN,K7EJD4_HUMAN,K7EIN5_HUMAN			YES	RFX2,missense_variant,p.Cys228Phe,ENST00000303657,NM_000635.3;RFX2,missense_variant,p.Cys228Phe,ENST00000359161,;RFX2,missense_variant,p.Cys203Phe,ENST00000592546,NM_134433.2;RFX2,missense_variant,p.Cys52Phe,ENST00000586806,;RFX2,5_prime_UTR_variant,,ENST00000589742,;RFX2,5_prime_UTR_variant,,ENST00000587321,;CTC-232P5.1,intron_variant,,ENST00000587836,;RFX2,non_coding_transcript_exon_variant,,ENST00000592337,;RFX2,non_coding_transcript_exon_variant,,ENST00000588021,;							MODERATE	683/2172	C228F	RFX2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000306335		CCDS12157.1			1	
CCT2	0	LGGM	GRCh37	12	69986784	69986784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	33	3	.	.	ENST00000299300.6:c.779C>A	p.Ser260Tyr	p.S260Y	ENST00000299300	NM_006431.2	260	tCt/tAt	0	1	1	UPI0000136AF3	0	getma.org/pdb.php?prot=TCPB_HUMAN&from=35&to=525&var=S260Y	ENST00000299300		ENSG00000166226	1615		36	3.8		HGNC	p.S260Y		CCT2		SNV							ENST00000550010	protein_coding	getma.org/?cm=var&var=hg19,12,69986784,C,A&fts=all		hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029		S/Y		A	high	967/2041		getma.org/?cm=msa&ty=f&p=TCPB_HUMAN&rb=35&re=525&var=S260Y	deleterious(0)	Q9H369_HUMAN			YES	CCT2,missense_variant,p.Ser213Tyr,ENST00000543146,NM_001198842.1;CCT2,missense_variant,p.Ser260Tyr,ENST00000299300,NM_006431.2;CCT2,missense_variant,p.Ser260Tyr,ENST00000544368,;CCT2,missense_variant,p.Ser260Tyr,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000548787,;CCT2,non_coding_transcript_exon_variant,,ENST00000553169,;CCT2,downstream_gene_variant,,ENST00000551620,;CCT2,downstream_gene_variant,,ENST00000550638,;CCT2,downstream_gene_variant,,ENST00000546859,;CCT2,downstream_gene_variant,,ENST00000546850,;							MODERATE	779/1608	S260Y	TCPB_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000299300		CCDS8991.1			1	
KLHL22	0	LGGM	GRCh37	22	20843530	20843530	+	splice_region_variant,5_prime_UTR_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	17	3	.	.	ENST00000328879.4:c.-32C>T		p.X11_splice	ENST00000328879	NM_032775.3			0	1	1	UPI0000072F37	0		ENST00000328879		ENSG00000099910	25888		20			HGNC	p.A22V		KLHL22		SNV							ENST00000423364	protein_coding							A		126/2616				C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN			YES	KLHL22,missense_variant,p.Ala22Val,ENST00000444967,;KLHL22,missense_variant,p.Ala24Val,ENST00000443285,;KLHL22,missense_variant,p.Ala22Val,ENST00000423364,;KLHL22,splice_region_variant,,ENST00000328879,NM_032775.3;KLHL22,splice_region_variant,,ENST00000440659,;KLHL22,splice_region_variant,,ENST00000431430,;KLHL22,intron_variant,,ENST00000458248,;KLHL22,intron_variant,,ENST00000451553,;KLHL22,splice_region_variant,,ENST00000470335,;KLHL22,splice_region_variant,,ENST00000494929,;KLHL22,intron_variant,,ENST00000490556,;KLHL22,splice_region_variant,,ENST00000479601,;							LOW	-/1905		KLH22_HUMAN			Transcript			.	ENSP00000331682		CCDS13780.1			1	
RASGRF2	0	LGGM	GRCh37	5	80382708	80382708	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	34	3	.	.	ENST00000265080.4:c.1326C>A	p.Ile442=	p.I442=	ENST00000265080	NM_006909.2	442	atC/atA	0	1	1	UPI0000047ABF	0		ENST00000265080		ENSG00000113319	9876		37			HGNC	p.I442I		RASGRF2		SNV							ENST00000265080	protein_coding			Superfamily_domains:SSF48065,Superfamily_domains:SSF50729,Gene3D:1.20.900.10,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187		I		A		1393/8167				Q68DX5_HUMAN			YES	RASGRF2,synonymous_variant,p.=,ENST00000265080,NM_006909.2;RASGRF2,non_coding_transcript_exon_variant,,ENST00000502677,;RASGRF2,synonymous_variant,p.=,ENST00000503795,;							LOW	1326/3714		RGRF2_HUMAN			Transcript			.	ENSP00000265080		CCDS4052.1			1	
TRANK1	0	LGGM	GRCh37	3	36900209	36900209	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	42	3	.	.	ENST00000429976.2:c.1540G>A	p.Ala514Thr	p.A514T	ENST00000429976		514	Gct/Act	0	1	1	UPI00017BE82B	0	getma.org/pdb.php?prot=TRNK1_HUMAN&from=401&to=600&var=A514T	ENST00000429976		ENSG00000168016	29011		45	1.3		HGNC	p.A514T		TRANK1		SNV							ENST00000429976	protein_coding	getma.org/?cm=var&var=hg19,3,36900209,C,T&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,hmmpanther:PTHR21529:SF5,hmmpanther:PTHR21529,PROSITE_profiles:PS50297		A/T		T	low	1788/10481		getma.org/?cm=msa&ty=f&p=TRNK1_HUMAN&rb=401&re=600&var=A514T	tolerated(0.58)	B7WP88_HUMAN			YES	TRANK1,missense_variant,p.Ala514Thr,ENST00000429976,;TRANK1,splice_region_variant,,ENST00000301807,NM_014831.2;TRANK1,splice_region_variant,,ENST00000428977,;TRANK1,downstream_gene_variant,,ENST00000513141,;							MODERATE	1540/8778	A514T	TRNK1_HUMAN			Transcript		benign(0.005)	.	ENSP00000416168		CCDS46789.2			1	
TRO	0	LGGM	GRCh37	X	54956799	54956799	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	30	3	.	.	ENST00000173898.7:c.3642C>A	p.Asn1214Lys	p.N1214K	ENST00000173898	NM_001039705.2	1214	aaC/aaA	0	1	1	UPI000021208F	0	NA	ENST00000173898		ENSG00000067445	12326		33	0		HGNC	p.N817K		TRO		SNV							ENST00000375041	protein_coding	getma.org/?cm=var&var=hg19,X,54956799,C,A&fts=all		Low_complexity_(Seg):seg		N/K		A	neutral	3754/4647		getma.org/?cm=msa&ty=f&p=TROP_HUMAN&rb=711&re=1430&var=N1214K	tolerated(0.07)	F5GY27_HUMAN,E7ERU6_HUMAN,B1AKF6_HUMAN,B1AKF5_HUMAN,B1AKF4_HUMAN,B1AKF3_HUMAN,B1AKF2_HUMAN,B1AKE7_HUMAN,B1AKE6_HUMAN,B1AKE5_HUMAN			YES	TRO,missense_variant,p.Asn1214Lys,ENST00000173898,NM_001039705.2;TRO,missense_variant,p.Asn817Lys,ENST00000375041,NM_001271184.1;TRO,missense_variant,p.Asn745Lys,ENST00000420798,NM_001271183.1;TRO,intron_variant,,ENST00000319167,NM_016157.3;TRO,intron_variant,,ENST00000375022,NM_177556.2;TRO,intron_variant,,ENST00000399736,NM_177557.2;PFKFB1,downstream_gene_variant,,ENST00000375006,NM_001271804.1,NM_002625.3;PFKFB1,downstream_gene_variant,,ENST00000545676,NM_001271805.1;PFKFB1,downstream_gene_variant,,ENST00000374992,;TRO,downstream_gene_variant,,ENST00000431115,;SNORA11,downstream_gene_variant,,ENST00000408823,;TRO,intron_variant,,ENST00000475183,;TRO,downstream_gene_variant,,ENST00000484031,;TRO,downstream_gene_variant,,ENST00000492142,;TRO,non_coding_transcript_exon_variant,,ENST00000492706,;TRO,intron_variant,,ENST00000445561,;TRO,downstream_gene_variant,,ENST00000469211,;							MODERATE	3642/4296	N1214K	TROP_HUMAN			Transcript		possibly_damaging(0.594)	.	ENSP00000173898		CCDS43959.1			1	
KANK2	0	LGGM	GRCh37	19	11289370	11289370	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	12	3	.	.	ENST00000432929.2:c.1276T>C	p.Ser426Pro	p.S426P	ENST00000432929	NM_001136191.2	426	Tct/Cct	0	1		UPI000019C89B	0	NA	ENST00000586659		ENSG00000197256	29300		15	0.805		HGNC	p.S426P		KANK2		SNV			1				ENST00000355150	protein_coding	getma.org/?cm=var&var=hg19,19,11289370,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF0		S/P		G	low	1591/5162		getma.org/?cm=msa&ty=f&p=KANK2_HUMAN&rb=270&re=469&var=S426P	tolerated(0.32)	Q9NXX5_HUMAN,K7ES05_HUMAN,K7ERU2_HUMAN,K7EL48_HUMAN				KANK2,missense_variant,p.Ser426Pro,ENST00000432929,NM_001136191.2;KANK2,missense_variant,p.Ser426Pro,ENST00000586659,;KANK2,missense_variant,p.Ser426Pro,ENST00000355150,NM_015493.6;KANK2,missense_variant,p.Ser426Pro,ENST00000589359,;KANK2,missense_variant,p.Ser426Pro,ENST00000589894,;KANK2,upstream_gene_variant,,ENST00000588787,;							MODERATE	1276/2556	S426P	KANK2_HUMAN			Transcript		benign(0.001)	.	ENSP00000465650		CCDS12255.1			1	
WIF1	0	LGGM	GRCh37	12	65471605	65471605	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	20	3	.	.	ENST00000286574.4:c.318G>A	p.Leu106=	p.L106=	ENST00000286574	NM_007191.4	106	ttG/ttA	0	1	1	UPI0000038BEE	0		ENST00000286574		ENSG00000156076	18081		23			HGNC	p.L106L		WIF1		SNV							ENST00000286574	protein_coding			PROSITE_profiles:PS50814,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,Pfam_domain:PF02019,SMART_domains:SM00469,Prints_domain:PR01901		L		T		693/2238				F5H8A3_HUMAN,B4DX53_HUMAN			YES	WIF1,synonymous_variant,p.=,ENST00000286574,NM_007191.4;WIF1,synonymous_variant,p.=,ENST00000546001,;							LOW	318/1140		WIF1_HUMAN			Transcript			.	ENSP00000286574		CCDS8971.1			1	
REG1A	0	LGGM	GRCh37	2	79350314	79350314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	21	3	.	.	ENST00000233735.1:c.474C>A	p.Phe158Leu	p.F158L	ENST00000233735	NM_002909.4	158	ttC/ttA	0	1	1	UPI000012E72D	0	getma.org/pdb.php?prot=REG1A_HUMAN&from=53&to=164&var=F158L	ENST00000233735		ENSG00000115386	9951		24	0.02		HGNC	p.F158L	COSM1023180	REG1A		SNV						1	ENST00000233735	protein_coding	getma.org/?cm=var&var=hg19,2,79350314,C,A&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF25,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504		F/L		A	neutral	577/808		getma.org/?cm=msa&ty=f&p=REG1A_HUMAN&rb=53&re=164&var=F158L	tolerated(1)	Q2TBE1_HUMAN			YES	REG1A,missense_variant,p.Phe158Leu,ENST00000233735,NM_002909.4;REG1A,downstream_gene_variant,,ENST00000488524,;REG1A,downstream_gene_variant,,ENST00000485184,;REG1A,downstream_gene_variant,,ENST00000461579,;					1		MODERATE	474/501	F158L	REG1A_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000233735		CCDS1964.1			1	
SYK	0	LGGM	GRCh37	9	93636522	93636522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	46	3	.	.	ENST00000375746.1:c.952G>A	p.Val318Met	p.V318M	ENST00000375746	NM_001174167.1	318	Gtg/Atg	0	1		UPI000012E0DD	0	NA	ENST00000375746		ENSG00000165025	11491		49	0.895		HGNC	p.V295M		SYK		SNV							ENST00000375747	protein_coding	getma.org/?cm=var&var=hg19,9,93636522,G,A&fts=all		PIRSF_domain:PIRSF000604,hmmpanther:PTHR24418:SF79,hmmpanther:PTHR24418		V/M		A	low	1085/4990		getma.org/?cm=msa&ty=f&p=KSYK_HUMAN&rb=245&re=370&var=V318M	tolerated(0.17)					SYK,missense_variant,p.Val318Met,ENST00000375754,NM_003177.5;SYK,missense_variant,p.Val318Met,ENST00000375746,NM_001174167.1;SYK,missense_variant,p.Val295Met,ENST00000375751,NM_001135052.2;SYK,missense_variant,p.Val295Met,ENST00000375747,NM_001174168.1;							MODERATE	952/1908	V318M	KSYK_HUMAN			Transcript		benign(0.114)	.	ENSP00000364898		CCDS6688.1			1	
COQ10A	0	LGGM	GRCh37	12	56662846	56662846	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	39	3	.	.	ENST00000308197.5:c.285C>A	p.Tyr95Ter	p.Y95*	ENST00000308197	NM_144576.3	95	taC/taA	0	1	1	UPI000013CF99	0	NA	ENST00000308197		ENSG00000135469	26515		42	0		HGNC	p.Y63X		COQ10A		SNV							ENST00000433805	protein_coding	getma.org/?cm=var&var=hg19,12,56662846,C,A&fts=all		hmmpanther:PTHR12901:SF8,hmmpanther:PTHR12901,Gene3D:3.30.530.20,Pfam_domain:PF03364,Superfamily_domains:SSF55961		Y/*		A	NA	546/1652		NA					YES	COQ10A,stop_gained,p.Tyr95Ter,ENST00000308197,NM_144576.3;COQ10A,stop_gained,p.Tyr63Ter,ENST00000433805,NM_001099337.1;COQ10A,stop_gained,p.Tyr78Ter,ENST00000546544,;COQ10A,missense_variant,p.Thr49Asn,ENST00000553234,;CS,downstream_gene_variant,,ENST00000548567,;CS,downstream_gene_variant,,ENST00000351328,NM_004077.2;CS,downstream_gene_variant,,ENST00000542324,;CS,downstream_gene_variant,,ENST00000548746,;COQ10A,upstream_gene_variant,,ENST00000551814,;RP11-977G19.14,intron_variant,,ENST00000546464,;COQ10A,non_coding_transcript_exon_variant,,ENST00000549545,;COQ10A,non_coding_transcript_exon_variant,,ENST00000551911,;COQ10A,non_coding_transcript_exon_variant,,ENST00000550071,;CS,downstream_gene_variant,,ENST00000549143,;CS,downstream_gene_variant,,ENST00000546585,;CS,downstream_gene_variant,,ENST00000546621,;CS,downstream_gene_variant,,ENST00000546891,;COQ10A,downstream_gene_variant,,ENST00000546614,;COQ10A,downstream_gene_variant,,ENST00000551566,;							HIGH	285/744	Y95*	CQ10A_HUMAN			Transcript			.	ENSP00000312587		CCDS41796.1			1	
MGAT5	0	LGGM	GRCh37	2	135206370	135206370	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	44	3	.	.	ENST00000409645.1:c.2178C>T	p.Cys726=	p.C726=	ENST00000409645		726	tgC/tgT	0	1		UPI0000049D8F	0		ENST00000281923		ENSG00000152127	7049		47			HGNC	p.C726C		MGAT5		SNV							ENST00000281923	protein_coding			Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF3		C		T		2323/2421				Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN				MGAT5,synonymous_variant,p.=,ENST00000409645,;MGAT5,synonymous_variant,p.=,ENST00000281923,NM_002410.4;							LOW	2178/2226		MGT5A_HUMAN			Transcript			.	ENSP00000281923		CCDS2171.1			1	
CACNA1S	0	LGGM	GRCh37	1	201031216	201031216	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	11	3	.	.	ENST00000362061.3:c.2909G>T	p.Gly970Val	p.G970V	ENST00000362061	NM_000069.2	970	gGc/gTc	0	1	1	UPI000020471D	0	getma.org/pdb.php?prot=CAC1S_HUMAN&from=834&to=1064&var=G970V	ENST00000362061		ENSG00000081248	1397		14	3.32		HGNC	p.G970V		CACNA1S		SNV			1				ENST00000362061	protein_coding	getma.org/?cm=var&var=hg19,1,201031216,C,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF190		G/V		A	medium	3136/6166		getma.org/?cm=msa&ty=f&p=CAC1S_HUMAN&rb=834&re=1064&var=G970V	deleterious(0)	Q13062_HUMAN,Q12966_HUMAN			YES	CACNA1S,missense_variant,p.Gly970Val,ENST00000362061,NM_000069.2;CACNA1S,missense_variant,p.Gly970Val,ENST00000367338,;							MODERATE	2909/5622	G970V	CAC1S_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355192		CCDS1407.1			1	
OR4K13	0	LGGM	GRCh37	14	20502741	20502741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	45	3	.	.	ENST00000315693.2:c.177G>T	p.Met59Ile	p.M59I	ENST00000315693	NM_001004714.1	59	atG/atT	0	1	1	UPI0000041CEB	0	getma.org/pdb.php?prot=OR4KD_HUMAN&from=1&to=138&var=M59I	ENST00000315693		ENSG00000176253	15351		48	4.03		HGNC	p.M59I		OR4K13		SNV							ENST00000315693	protein_coding	getma.org/?cm=var&var=hg19,14,20502741,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF123,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		M/I		A	high	179/917		getma.org/?cm=msa&ty=f&p=OR4KD_HUMAN&rb=1&re=138&var=M59I	deleterious(0)				YES	OR4K13,missense_variant,p.Met59Ile,ENST00000315693,NM_001004714.1;AL359218.1,downstream_gene_variant,,ENST00000580563,;							MODERATE	177/915	M59I	OR4KD_HUMAN			Transcript		possibly_damaging(0.643)	.	ENSP00000319322		CCDS32028.1			1	
PSEN2	0	LGGM	GRCh37	1	227075817	227075817	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	40	4	.	.	ENST00000366783.3:c.524C>A	p.Ser175Tyr	p.S175Y	ENST00000366783	NM_000447.2	175	tCt/tAt	0	1	1	UPI0000049EDA	0	NA	ENST00000366783		ENSG00000143801	9509		44	3.165		HGNC	p.S175Y		PSEN2		SNV			1				ENST00000366783	protein_coding	getma.org/?cm=var&var=hg19,1,227075817,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10202,hmmpanther:PTHR10202:SF11,Pfam_domain:PF01080,SMART_domains:SM00730		S/Y		A	medium	960/2302		getma.org/?cm=msa&ty=f&p=PSN2_HUMAN&rb=76&re=323&var=S175Y	deleterious(0)	E5RJM5_HUMAN,E5RHT1_HUMAN,E5RG63_HUMAN,E5RFW4_HUMAN,B4DVM3_HUMAN			YES	PSEN2,missense_variant,p.Ser208Tyr,ENST00000366782,;PSEN2,missense_variant,p.Ser175Tyr,ENST00000366783,NM_000447.2,NM_012486.2;PSEN2,missense_variant,p.Ser175Tyr,ENST00000340188,;PSEN2,missense_variant,p.Ser208Tyr,ENST00000391872,;PSEN2,missense_variant,p.Ser175Tyr,ENST00000422240,;PSEN2,missense_variant,p.Ser31Tyr,ENST00000472139,;PSEN2,missense_variant,p.Ser2Tyr,ENST00000460775,;PSEN2,downstream_gene_variant,,ENST00000495488,;PSEN2,upstream_gene_variant,,ENST00000471728,;PSEN2,upstream_gene_variant,,ENST00000487450,;PSEN2,missense_variant,p.Ser175Tyr,ENST00000496965,;							MODERATE	524/1347	S175Y	PSN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355747		CCDS1556.1			1	
LRP1B	0	LGGM	GRCh37	2	141115645	141115645	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	54	4	.	.	ENST00000389484.3:c.11298G>C	p.Glu3766Asp	p.E3766D	ENST00000389484	NM_018557.2	3766	gaG/gaC	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3760&to=3796&var=E3766D	ENST00000389484		ENSG00000168702	6693		58	2.245		HGNC	p.E3766D		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141115645,C,G&fts=all		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,SMART_domains:SM00192,Superfamily_domains:SSF57424		E/D		G	medium	12270/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3760&re=3796&var=E3766D		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			YES	LRP1B,missense_variant,p.Glu3766Asp,ENST00000389484,NM_018557.2;LRP1B,upstream_gene_variant,,ENST00000437977,;							MODERATE	11298/13800	E3766D	LRP1B_HUMAN			Transcript		possibly_damaging(0.523)	.	ENSP00000374135		CCDS2182.1			1	
BTN1A1	0	LGGM	GRCh37	6	26509308	26509308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	89	4	.	.	ENST00000244513.6:c.1487C>A	p.Pro496Gln	p.P496Q	ENST00000244513	NM_001732.2	496	cCa/cAa	0	1	1	UPI000006E521	0	NA	ENST00000244513		ENSG00000124557	1135		93	0.895		HGNC	p.P496Q		BTN1A1		SNV							ENST00000244513	protein_coding	getma.org/?cm=var&var=hg19,6,26509308,C,A&fts=all				P/Q		A	low	1553/2895		getma.org/?cm=msa&ty=f&p=BT1A1_HUMAN&rb=477&re=526&var=P496Q	deleterious(0.04)				YES	BTN1A1,missense_variant,p.Pro496Gln,ENST00000244513,NM_001732.2;							MODERATE	1487/1581	P496Q	BT1A1_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000244513		CCDS4614.1			1	
SEC24B	0	LGGM	GRCh37	4	110451458	110451458	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	35	4	.	.	ENST00000265175.5:c.3090C>T	p.Ser1030=	p.S1030=	ENST00000265175	NM_006323.2	1030	tcC/tcT	0	1	1	UPI00004F6ED7	0		ENST00000265175		ENSG00000138802	10704		39			HGNC	p.S1060S	rs376824960	SEC24B	6.08E-05	SNV	T:0.0003						ENST00000504968	protein_coding			hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF7,Pfam_domain:PF04815,Superfamily_domains:SSF81811		S	T:0	T		3145/5083	4.50E-05			B4E2E1_HUMAN			YES	SEC24B,synonymous_variant,p.=,ENST00000265175,NM_006323.2;SEC24B,synonymous_variant,p.=,ENST00000504968,;SEC24B,synonymous_variant,p.=,ENST00000399100,NM_001042734.1;							LOW	3090/3807		SC24B_HUMAN			Transcript			.	ENSP00000265175	3.31E-05	CCDS47124.1			1	
UBA6	0	LGGM	GRCh37	4	68527887	68527887	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	29	4	.	.	ENST00000322244.5:c.1104+20G>T		*368*	ENST00000322244	NM_018227.5			0	1	1	UPI000004A4F7	0		ENST00000322244		ENSG00000033178	25581		33			HGNC	p.G375V		UBA6		SNV							ENST00000420827	protein_coding							A		-/9564				B3KSS1_HUMAN			YES	UBA6,missense_variant,p.Gly375Val,ENST00000420827,;UBA6,intron_variant,,ENST00000322244,NM_018227.5;UBA6,downstream_gene_variant,,ENST00000429659,;							MODIFIER	-/3159		UBA6_HUMAN			Transcript			.	ENSP00000313454		CCDS3516.1			1	
OOEP	0	LGGM	GRCh37	6	74079482	74079482	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	61	4	.	.	ENST00000370359.5:c.34C>T	p.Arg12Trp	p.R12W	ENST00000370359	NM_001080507.2	12	Cgg/Tgg	0	1	1	UPI00001D8132	0	NA	ENST00000370359		ENSG00000203907	21382		65	0		HGNC	p.R12W		OOEP		SNV							ENST00000370359	protein_coding	getma.org/?cm=var&var=hg19,6,74079482,G,A&fts=all		hmmpanther:PTHR19447:SF14,hmmpanther:PTHR19447		R/W		A	neutral	34/478		getma.org/?cm=msa&ty=f&p=OOEP_HUMAN&rb=1&re=58&var=R12W	deleterious(0.01)				YES	OOEP,missense_variant,p.Arg12Trp,ENST00000370359,NM_001080507.2;OOEP,intron_variant,,ENST00000370363,;OOEP,intron_variant,,ENST00000441145,;OOEP-AS1,non_coding_transcript_exon_variant,,ENST00000445350,;RPL39P3,downstream_gene_variant,,ENST00000424573,;							MODERATE	34/450	R12W	OOEP_HUMAN			Transcript		benign(0)	.	ENSP00000359384		CCDS47451.1			1	
ZNF831	0	LGGM	GRCh37	20	57766764	57766764	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	27	5	.	.	ENST00000371030.2:c.690C>T	p.Gly230=	p.G230=	ENST00000371030	NM_178457.2	230	ggC/ggT	0	1	1	UPI00001D82E4	0		ENST00000371030		ENSG00000124203	16167		32			HGNC	p.G230G		ZNF831		SNV							ENST00000371030	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		G		T		690/9404							YES	ZNF831,synonymous_variant,p.=,ENST00000371030,NM_178457.2;							LOW	690/5034		ZN831_HUMAN			Transcript			.	ENSP00000360069		CCDS42894.1			1	
SPRR2A	0	LGGM	GRCh37	1	153029179	153029179	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	23	5	.	.	ENST00000392653.2:c.33C>T	p.Pro11=	p.P11=	ENST00000392653	NM_005988.2	11	ccC/ccT	0	1	1	UPI0000135D6D	0		ENST00000392653		ENSG00000241794	11261		28			HGNC	p.P11P		SPRR2A		SNV							ENST00000392653	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF29,hmmpanther:PTHR23263,Pfam_domain:PF14820,Prints_domain:PR00021		P		A		119/709							YES	SPRR2A,synonymous_variant,p.=,ENST00000392653,NM_005988.2;							LOW	33/219		SPR2A_HUMAN			Transcript			.	ENSP00000376423		CCDS1034.1			1	
PLXNA2	0	LGGM	GRCh37	1	208218421	208218421	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	29	5	.	.	ENST00000367033.3:c.3630C>T	p.His1210=	p.H1210=	ENST00000367033	NM_025179.3	1210	caC/caT	0	1	1	UPI000022B239	0		ENST00000367033		ENSG00000076356	9100		34			HGNC	p.H1210H	rs543030636	PLXNA2		SNV							ENST00000367033	protein_coding			hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296		H		A		4388/11444							YES	PLXNA2,synonymous_variant,p.=,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000463510,;							LOW	3630/5685		PLXA2_HUMAN			Transcript			.	ENSP00000356000		CCDS31013.1			1	
FARP2	0	LGGM	GRCh37	2	242407710	242407710	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	54	5	.	.	ENST00000264042.3:c.2049G>A	p.Gln683=	p.Q683=	ENST00000264042	NM_014808.2	683	caG/caA	0	1	1	UPI0000073D5B	0		ENST00000264042		ENSG00000006607	16460		59			HGNC	p.Q683Q		FARP2		SNV							ENST00000264042	protein_coding			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58,SMART_domains:SM00325,Superfamily_domains:SSF48065		Q		A		2219/4051				C9JWM9_HUMAN,C9JVQ5_HUMAN			YES	FARP2,synonymous_variant,p.=,ENST00000264042,NM_014808.2;FARP2,downstream_gene_variant,,ENST00000373287,NM_001282983.1;FARP2,downstream_gene_variant,,ENST00000545004,NM_001282984.1;FARP2,downstream_gene_variant,,ENST00000422951,;FARP2,upstream_gene_variant,,ENST00000491425,;FARP2,non_coding_transcript_exon_variant,,ENST00000496470,;FARP2,downstream_gene_variant,,ENST00000476799,;FARP2,downstream_gene_variant,,ENST00000473510,;							LOW	2049/3165		FARP2_HUMAN			Transcript			.	ENSP00000264042		CCDS33424.1			1	
NBN	0	LGGM	GRCh37	8	90965604	90965604	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080540	H080540N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	117	5	.	.	ENST00000265433.3:c.1713A>G	p.Lys571=	p.K571=	ENST00000265433	NM_002485.4	571	aaA/aaG	0	1	1	UPI0000073BF4	0		ENST00000265433		ENSG00000104320	7652		122			HGNC	p.K571K		NBN		SNV			1				ENST00000265433	protein_coding			PIRSF_domain:PIRSF011869,hmmpanther:PTHR12162		K		C		1868/4666				E5RGR7_HUMAN,E5RGN7_HUMAN			YES	NBN,synonymous_variant,p.=,ENST00000265433,NM_002485.4;NBN,synonymous_variant,p.=,ENST00000409330,;NBN,3_prime_UTR_variant,,ENST00000396252,;							LOW	1713/2265		NBN_HUMAN			Transcript			.	ENSP00000265433		CCDS6249.1			1	
PCDH7	0	LGGM	GRCh37	4	30921964	30921964	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	19	6	.	.	ENST00000543491.1:c.3364G>T	p.Val1122Phe	p.V1122F	ENST00000543491		1122	Gtt/Ttt	0	1	1	UPI0001CB27C3	0	NA	ENST00000543491		ENSG00000169851	8659		25	1.1		HGNC	p.V1122F		PCDH7		SNV							ENST00000543491	protein_coding	getma.org/?cm=var&var=hg19,4,30921964,G,T&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14		V/F		T	low	3364/3768		getma.org/?cm=msa&ty=f&p=F5GWJ1_HUMAN&rb=1001&re=1200&var=V1122F	deleterious(0.02)	F5GWJ1_HUMAN			YES	PCDH7,missense_variant,p.Val812Phe,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,missense_variant,p.Val1122Phe,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509925,;							MODERATE	3364/3768	V1122F				Transcript		probably_damaging(0.992)	.	ENSP00000441802		CCDS54753.1			1	
DNMT3L	0	LGGM	GRCh37	21	45670779	45670779	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	12	6	.	.	ENST00000270172.3:c.823G>A	p.Gly275Ser	p.G275S	ENST00000270172	NM_013369.3	275	Ggc/Agc	0	1	1	UPI00001294C2	0	getma.org/pdb.php?prot=DNM3L_HUMAN&from=201&to=386&var=G275S	ENST00000270172		ENSG00000142182	2980		18	2.175		HGNC	p.G275S	COSM3551323	DNMT3L		SNV						1	ENST00000270172	protein_coding	getma.org/?cm=var&var=hg19,21,45670779,C,T&fts=all		hmmpanther:PTHR23068:SF5,hmmpanther:PTHR23068		G/S		T	medium	1307/1706		getma.org/?cm=msa&ty=f&p=DNM3L_HUMAN&rb=201&re=386&var=G275S	tolerated(0.17)				YES	DNMT3L,missense_variant,p.Gly275Ser,ENST00000270172,NM_013369.3;DNMT3L,missense_variant,p.Gly275Ser,ENST00000418993,NM_175867.2;DNMT3L,missense_variant,p.Gly260Ser,ENST00000431166,;DNMT3L,missense_variant,p.Gly70Ser,ENST00000436357,;AP001059.5,non_coding_transcript_exon_variant,,ENST00000442785,;					1		MODERATE	823/1164	G275S	DNM3L_HUMAN			Transcript		benign(0.014)	.	ENSP00000270172		CCDS13705.1			1	
WDR13	0	LGGM	GRCh37	X	48458941	48458941	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	14	7	.	.	ENST00000218056.5:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000218056	NM_001166426.1	253	cGa/cAa	0	1	1	UPI00001AE60C	0	getma.org/pdb.php?prot=WDR13_HUMAN&from=246&to=443&var=R253Q	ENST00000218056		ENSG00000101940	14352		21	2.565		HGNC	p.R253Q		WDR13		SNV							ENST00000218056	protein_coding	getma.org/?cm=var&var=hg19,X,48458941,G,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22838,hmmpanther:PTHR22838:SF1,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/Q		A	medium	1263/2124		getma.org/?cm=msa&ty=f&p=WDR13_HUMAN&rb=246&re=443&var=R253Q	deleterious(0)				YES	WDR13,missense_variant,p.Arg253Gln,ENST00000218056,NM_001166426.1,NM_017883.4;WDR13,missense_variant,p.Arg253Gln,ENST00000376729,;WDR13,non_coding_transcript_exon_variant,,ENST00000479279,;WDR13,non_coding_transcript_exon_variant,,ENST00000471334,;WDR13,non_coding_transcript_exon_variant,,ENST00000495575,;WDR13,downstream_gene_variant,,ENST00000492715,;WDR13,downstream_gene_variant,,ENST00000486125,;WDR13,downstream_gene_variant,,ENST00000497756,;WDR13,downstream_gene_variant,,ENST00000498631,;WDR13,downstream_gene_variant,,ENST00000466962,;WDR13,upstream_gene_variant,,ENST00000482760,;WDR13,upstream_gene_variant,,ENST00000492873,;WDR13,downstream_gene_variant,,ENST00000470124,;WDR13,downstream_gene_variant,,ENST00000472440,;							MODERATE	758/1458	R253Q	WDR13_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000218056		CCDS14302.1			1	
XAB2	0	LGGM	GRCh37	19	7690864	7690864	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	20	7	.	.	ENST00000358368.4:c.724G>A	p.Ala242Thr	p.A242T	ENST00000358368	NM_020196.2	242	Gcc/Acc	0	1	1	UPI0000001BDE	0	NA	ENST00000358368		ENSG00000076924	14089		27	2.585		HGNC	p.A239T		XAB2		SNV							ENST00000534844	protein_coding	getma.org/?cm=var&var=hg19,19,7690864,C,T&fts=all		hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13		A/T		T	medium	762/2667		getma.org/?cm=msa&ty=f&p=SYF1_HUMAN&rb=201&re=255&var=A242T	tolerated(0.07)	Q68CN2_HUMAN,F5H315_HUMAN			YES	XAB2,missense_variant,p.Ala242Thr,ENST00000358368,NM_020196.2;XAB2,missense_variant,p.Ala239Thr,ENST00000534844,;PET100,upstream_gene_variant,,ENST00000594797,NM_001171155.1;PET100,upstream_gene_variant,,ENST00000601406,;PET100,upstream_gene_variant,,ENST00000456958,;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;CTD-3214H19.4,upstream_gene_variant,,ENST00000595866,;XAB2,upstream_gene_variant,,ENST00000600230,;CTD-3214H19.4,upstream_gene_variant,,ENST00000599243,;XAB2,upstream_gene_variant,,ENST00000596134,;CTD-3214H19.4,upstream_gene_variant,,ENST00000598664,;PET100,upstream_gene_variant,,ENST00000600836,;PET100,upstream_gene_variant,,ENST00000598540,;PET100,upstream_gene_variant,,ENST00000601829,;							MODERATE	724/2568	A242T	SYF1_HUMAN			Transcript		benign(0.298)	.	ENSP00000351137		CCDS32892.1			1	
C12orf55	0	LGGM	GRCh37	12	97137327	97137327	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	37	8	.	.	ENST00000524981.4:c.7367C>T	p.Thr2456Ile	p.T2456I	ENST00000524981		2456	aCa/aTa	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		45	0.345		HGNC	p.T2456I		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97137327,C,T&fts=all				T/I		T	neutral	7390/9766		getma.org/?cm=msa&ty=f&p=CL063_HUMAN&rb=1&re=1194&var=T881I	tolerated(0.19)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Thr2456Ile,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	7367/9291	T881I				Transcript		benign(0.002)	.	ENSP00000431759					1	
EIF5B	0	LGGM	GRCh37	2	100009492	100009492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	67	8	.	.	ENST00000289371.6:c.2811C>A	p.Asp937Glu	p.D937E	ENST00000289371	NM_015904.3	937	gaC/gaA	0	1	1	UPI0000207EC7	0	getma.org/pdb.php?prot=IF2P_HUMAN&from=870&to=948&var=D937E	ENST00000289371		ENSG00000158417	30793		75	1.26		HGNC	p.D937E		EIF5B		SNV							ENST00000289371	protein_coding	getma.org/?cm=var&var=hg19,2,100009492,C,A&fts=all		Pfam_domain:PF03144,Gene3D:2.40.30.10,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF99		D/E		A	low	3013/5777		getma.org/?cm=msa&ty=f&p=IF2P_HUMAN&rb=870&re=948&var=D937E		D3DVI5_HUMAN			YES	EIF5B,missense_variant,p.Asp937Glu,ENST00000289371,NM_015904.3;EIF5B,upstream_gene_variant,,ENST00000470023,;EIF5B,upstream_gene_variant,,ENST00000494190,;EIF5B,downstream_gene_variant,,ENST00000470868,;							MODERATE	2811/3663	D937E	IF2P_HUMAN			Transcript		benign(0.401)	.	ENSP00000289371		CCDS42721.1			1	
OR11L1	0	LGGM	GRCh37	1	248004272	248004272	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	64	8	.	.	ENST00000355784.2:c.927T>C	p.Cys309=	p.C309=	ENST00000355784	NM_001001959.1	309	tgT/tgC	0	1	1	UPI0000061EBC	0		ENST00000355784		ENSG00000197591	14998		72			HGNC	p.C309C		OR11L1		SNV							ENST00000355784	protein_coding			Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		C		G		983/1056							YES	OR11L1,synonymous_variant,p.=,ENST00000355784,NM_001001959.1;							LOW	927/969		O11L1_HUMAN			Transcript			.	ENSP00000348033		CCDS31098.1			1	
VIT	0	LGGM	GRCh37	2	37000948	37000948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	21	8	.	.	ENST00000379242.3:c.694G>A	p.Ala232Thr	p.A232T	ENST00000379242	NM_053276.3	232	Gcc/Acc	0	1		UPI00000389D9	0	NA	ENST00000389975		ENSG00000205221	12697		29	-0.895		HGNC	p.A232T		VIT		SNV							ENST00000379242	protein_coding	getma.org/?cm=var&var=hg19,2,37000948,G,A&fts=all		hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF3		A/T		A	neutral	996/2770		getma.org/?cm=msa&ty=f&p=VITRN_HUMAN&rb=134&re=292&var=A232T	tolerated(0.54)	C9J6F5_HUMAN				VIT,missense_variant,p.Ala232Thr,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Ala232Thr,ENST00000389975,NM_001177970.1,NM_001177969.1;VIT,missense_variant,p.Ala232Thr,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.Ala232Thr,ENST00000401530,;VIT,5_prime_UTR_variant,,ENST00000497382,;VIT,intron_variant,,ENST00000404084,;VIT,upstream_gene_variant,,ENST00000464309,;							MODERATE	694/2037	A232T	VITRN_HUMAN			Transcript		benign(0)	.	ENSP00000374625		CCDS54347.1			1	
TMEM132E	0	LGGM	GRCh37	17	32957046	32957046	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	13	8	.	.	ENST00000321639.5:c.1088C>T	p.Thr363Met	p.T363M	ENST00000321639	NM_207313.1	363	aCg/aTg	0	1	1	UPI000035960F	0	NA	ENST00000321639		ENSG00000181291	26991		21	2.61		HGNC	p.T363M	rs755068751	TMEM132E	6.30E-05	SNV							ENST00000321639	protein_coding	getma.org/?cm=var&var=hg19,17,32957046,C,T&fts=all		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF7		T/M		T	medium	1416/4369	4.54E-05	getma.org/?cm=msa&ty=f&p=T132E_HUMAN&rb=16&re=982&var=T363M	deleterious(0)				YES	TMEM132E,missense_variant,p.Thr363Met,ENST00000321639,NM_207313.1;	0.000116						MODERATE	1088/2955	T363M	T132E_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000316532	4.12E-05	CCDS11283.1			1	
DNAH14	0	LGGM	GRCh37	1	225445660	225445660	+	splice_acceptor_variant,NMD_transcript_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	103	9	.	.	ENST00000327794.6:c.147-2A>G		p.X49_splice	ENST00000327794				0	1		UPI0001642868	0		ENST00000445597		ENSG00000185842	2945		112			HGNC	-		DNAH14		SNV							ENST00000430092	protein_coding							G		-/10524				C9JU64_HUMAN				DNAH14,splice_acceptor_variant,,ENST00000430092,NM_001373.1;DNAH14,splice_acceptor_variant,,ENST00000439375,;DNAH14,splice_acceptor_variant,,ENST00000450490,;DNAH14,intron_variant,,ENST00000445597,;DNAH14,splice_acceptor_variant,,ENST00000327794,;							MODIFIER	-/10524		DYH14_HUMAN			Transcript			.	ENSP00000409472					1	
OR1C1	0	LGGM	GRCh37	1	247920865	247920865	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	85	9	.	.	ENST00000408896.2:c.844G>A	p.Ala282Thr	p.A282T	ENST00000408896	NM_012353.2	282	Gct/Act	0	1	1	UPI000004B1DC	0	NA	ENST00000408896		ENSG00000221888	8182		94	-1.825		HGNC	p.A282T		OR1C1		SNV							ENST00000408896	protein_coding	getma.org/?cm=var&var=hg19,1,247920865,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF108,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237		A/T		T	neutral	1118/1307		getma.org/?cm=msa&ty=f&p=OR1C1_HUMAN&rb=139&re=283&var=A282T	tolerated(1)				YES	OR1C1,missense_variant,p.Ala282Thr,ENST00000408896,NM_012353.2;							MODERATE	844/945	A282T	OR1C1_HUMAN			Transcript		benign(0.001)	.	ENSP00000386138		CCDS41481.1			1	
OXCT1	0	LGGM	GRCh37	5	41840563	41840563	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	70	9	.	.	ENST00000196371.5:c.722C>G	p.Thr241Arg	p.T241R	ENST00000196371	NM_000436.3	241	aCa/aGa	0	1	1	UPI0000000C9A	0	getma.org/pdb.php?prot=SCOT1_HUMAN&from=43&to=272&var=T241R	ENST00000196371		ENSG00000083720	8527		79	3.825		HGNC	p.T241R		OXCT1		SNV			1				ENST00000196371	protein_coding	getma.org/?cm=var&var=hg19,5,41840563,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF30,Pfam_domain:PF01144,Gene3D:3.40.1080.10,TIGRFAM_domain:TIGR02429,PIRSF_domain:PIRSF000858,SMART_domains:SM00882,Superfamily_domains:SSF100950		T/R		C	high	883/3388		getma.org/?cm=msa&ty=f&p=SCOT1_HUMAN&rb=43&re=272&var=T241R	deleterious(0)	B7Z528_HUMAN,A1E286_HUMAN			YES	OXCT1,missense_variant,p.Thr241Arg,ENST00000196371,NM_000436.3;OXCT1,missense_variant,p.Thr55Arg,ENST00000509987,;OXCT1,non_coding_transcript_exon_variant,,ENST00000514723,;							MODERATE	722/1563	T241R	SCOT1_HUMAN			Transcript		benign(0.355)	.	ENSP00000196371		CCDS3937.1			1	
ZNF791	0	LGGM	GRCh37	19	12738857	12738857	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	49	9	.	.	ENST00000343325.4:c.514C>T	p.His172Tyr	p.H172Y	ENST00000343325	NM_153358.2	172	Cac/Tac	0	1	1	UPI0000203455	0	getma.org/pdb.php?prot=ZN791_HUMAN&from=172&to=174&var=H172Y	ENST00000343325		ENSG00000173875	26895		58	0.23		HGNC	p.H63Y		ZNF791		SNV							ENST00000600752	protein_coding	getma.org/?cm=var&var=hg19,19,12738857,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/Y		T	neutral	676/4554		getma.org/?cm=msa&ty=f&p=ZN791_HUMAN&rb=142&re=204&var=H172Y	tolerated(1)	M0R0E8_HUMAN,F5GXD7_HUMAN,B7Z586_HUMAN			YES	ZNF791,missense_variant,p.His172Tyr,ENST00000343325,NM_153358.2;ZNF791,missense_variant,p.His140Tyr,ENST00000458122,;ZNF791,missense_variant,p.His63Tyr,ENST00000540038,;ZNF791,missense_variant,p.His63Tyr,ENST00000600752,;ZNF791,3_prime_UTR_variant,,ENST00000446165,;AC010422.1,upstream_gene_variant,,ENST00000408416,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000598225,;ZNF791,downstream_gene_variant,,ENST00000597691,;							MODERATE	514/1731	H172Y	ZN791_HUMAN			Transcript		benign(0.006)	.	ENSP00000342974		CCDS12273.1			1	
AXL	0	LGGM	GRCh37	19	41737127	41737127	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	26	9	.	.	ENST00000301178.4:c.707G>A	p.Arg236His	p.R236H	ENST00000301178	NM_021913.4	236	cGc/cAc	0	1	1	UPI000013E6DB	0	NA	ENST00000301178		ENSG00000167601	905		35	1.1		HGNC	p.R236H	rs767654945	AXL		SNV							ENST00000301178	protein_coding	getma.org/?cm=var&var=hg19,19,41737127,G,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR24416:SF3,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/H		A	low	897/4737	1.50E-05	getma.org/?cm=msa&ty=f&p=UFO_HUMAN&rb=226&re=321&var=R236H	tolerated(0.08)	Q15839_HUMAN,M0R0W6_HUMAN			YES	AXL,missense_variant,p.Arg236His,ENST00000301178,NM_021913.4;AXL,missense_variant,p.Arg236His,ENST00000359092,NM_001699.5;AXL,5_prime_UTR_variant,,ENST00000593513,NM_001278599.1;AXL,non_coding_transcript_exon_variant,,ENST00000599659,;							MODERATE	707/2685	R236H	UFO_HUMAN			Transcript		benign(0.009)	.	ENSP00000301178	8.24E-06	CCDS12575.1			1	
RERE	0	LGGM	GRCh37	1	8526043	8526043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	20	9	.	.	ENST00000337907.3:c.1145G>A	p.Arg382His	p.R382H	ENST00000337907	NM_012102.3	382	cGc/cAc	0	1	1	UPI00001419CC	0	NA	ENST00000337907		ENSG00000142599	9965		29	0.55		HGNC	p.R382H	rs780187350	RERE		SNV							ENST00000400907	protein_coding	getma.org/?cm=var&var=hg19,1,8526043,C,T&fts=all		PROSITE_profiles:PS51156,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF12,Superfamily_domains:SSF46689		R/H		T	neutral	1780/8026		getma.org/?cm=msa&ty=f&p=RERE_HUMAN&rb=284&re=387&var=R382H		K7EJQ1_HUMAN,K7EIQ4_HUMAN,K7EIE3_HUMAN			YES	RERE,missense_variant,p.Arg382His,ENST00000337907,NM_012102.3;RERE,missense_variant,p.Arg114His,ENST00000377464,;RERE,missense_variant,p.Arg382His,ENST00000400908,NM_001042681.1;RERE,missense_variant,p.Arg382His,ENST00000400907,;RERE,missense_variant,p.Arg64His,ENST00000464972,;RERE,non_coding_transcript_exon_variant,,ENST00000480342,;	0.000116						MODERATE	1145/4701	R382H	RERE_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000338629	8.24E-06	CCDS95.1			1	
TMPRSS12	0	LGGM	GRCh37	12	51281283	51281283	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080540	H080540N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	117	10	.	.	ENST00000398458.3:c.1034T>C	p.Leu345Pro	p.L345P	ENST00000398458	NM_182559.2	345	cTa/cCa	0	1	1	UPI000019741B	0	NA	ENST00000398458		ENSG00000186452	28779		127	0		HGNC	p.L345P		TMPRSS12		SNV							ENST00000398458	protein_coding	getma.org/?cm=var&var=hg19,12,51281283,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24259:SF5,hmmpanther:PTHR24259		L/P		C	neutral	1066/1450		getma.org/?cm=msa&ty=f&p=TMPSC_HUMAN&rb=314&re=348&var=L345P	deleterious(0)				YES	TMPRSS12,missense_variant,p.Leu345Pro,ENST00000398458,NM_182559.2;TMPRSS12,3_prime_UTR_variant,,ENST00000551456,;							MODERATE	1034/1047	L345P	TMPSC_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000381476		CCDS44881.1			1	
EIF4G1	0	LGGM	GRCh37	3	184045152	184045152	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	16	10	.	.	ENST00000424196.1:c.3598C>A	p.Arg1200=	p.R1200=	ENST00000424196		1200	Cgg/Agg	0	1		UPI00003671E5	0		ENST00000346169		ENSG00000114867	3296		26			HGNC	p.R1106R		EIF4G1		SNV			1				ENST00000392537	protein_coding			hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,Low_complexity_(Seg):seg		R		A		3848/5516				Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN				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,;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,,ENST00000448284,;SNORD66,downstream_gene_variant,,ENST00000390856,NR_003055.1;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000482303,;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,downstream_gene_variant,,ENST00000466311,;EIF4G1,upstream_gene_variant,,ENST00000478291,;							LOW	3577/4800		IF4G1_HUMAN			Transcript			.	ENSP00000316879		CCDS3259.1			1	
C10orf76	0	LGGM	GRCh37	10	103766317	103766317	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	8	10	.	.	ENST00000370033.4:c.1028C>G	p.Thr343Ser	p.T343S	ENST00000370033	NM_024541.2	343	aCc/aGc	0	1	1	UPI000047005B	0	NA	ENST00000370033		ENSG00000120029	25788		18	0.14		HGNC	p.T343S		C10orf76		SNV							ENST00000370033	protein_coding	getma.org/?cm=var&var=hg19,10,103766317,G,C&fts=all		hmmpanther:PTHR13608,hmmpanther:PTHR13608:SF3,Low_complexity_(Seg):seg		T/S		C	neutral	1148/4119		getma.org/?cm=msa&ty=f&p=CJ076_HUMAN&rb=201&re=400&var=T343S	tolerated(0.9)				YES	C10orf76,missense_variant,p.Thr343Ser,ENST00000370033,NM_024541.2;C10orf76,upstream_gene_variant,,ENST00000456149,;							MODERATE	1028/2070	T343S	CJ076_HUMAN			Transcript		benign(0.004)	.	ENSP00000359050		CCDS41563.1			1	
FRMD4A	0	LGGM	GRCh37	10	13708220	13708220	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080540	H080540N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	48	10	.	.	ENST00000357447.2:c.1480A>C	p.Lys494Gln	p.K494Q	ENST00000357447	NM_018027.3	494	Aaa/Caa	0	1	1	UPI0000366665	0	NA	ENST00000357447		ENSG00000151474	25491		58	1.7		HGNC	p.K479Q		FRMD4A		SNV							ENST00000358621	protein_coding	getma.org/?cm=var&var=hg19,10,13708220,T,G&fts=all		hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF12		K/Q		G	low	1849/6815		getma.org/?cm=msa&ty=f&p=FRM4A_HUMAN&rb=493&re=692&var=K494Q	deleterious(0)	F8WAN4_HUMAN			YES	FRMD4A,missense_variant,p.Lys494Gln,ENST00000357447,NM_018027.3;FRMD4A,missense_variant,p.Lys479Gln,ENST00000358621,;FRMD4A,missense_variant,p.Lys494Gln,ENST00000378503,;FRMD4A,downstream_gene_variant,,ENST00000264546,;RP11-295P9.3,intron_variant,,ENST00000593351,;							MODERATE	1480/3120	K494Q	FRM4A_HUMAN			Transcript		benign(0.329)	.	ENSP00000350032		CCDS7101.1			1	
CTNNA2	0	LGGM	GRCh37	2	80801301	80801301	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	47	10	.	.	ENST00000466387.1:c.1755C>T	p.Phe585=	p.F585=	ENST00000466387		585	ttC/ttT	0	1		UPI0000D9D4EC	0		ENST00000402739		ENSG00000066032	2510		57			HGNC	p.F585F	rs755494251	CTNNA2	0.000123	SNV				0.000102			ENST00000496558	protein_coding			Superfamily_domains:SSF47220,Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		F		T		1760/3684	1.50E-05			C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.1;CTNNA2,synonymous_variant,p.=,ENST00000541047,;CTNNA2,synonymous_variant,p.=,ENST00000343114,NM_001282600.1,NM_001282599.1;CTNNA2,synonymous_variant,p.=,ENST00000361291,;CTNNA2,synonymous_variant,p.=,ENST00000540488,;AC008067.2,downstream_gene_variant,,ENST00000596887,;AC008067.2,downstream_gene_variant,,ENST00000430876,;AC008067.2,downstream_gene_variant,,ENST00000609950,;							LOW	1755/2862		CTNA2_HUMAN			Transcript			.	ENSP00000384638	3.30E-05	CCDS62944.1			1	
NAALAD2	0	LGGM	GRCh37	11	89868726	89868726	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	15	11	.	.	ENST00000534061.1:c.83-1G>A		p.X28_splice	ENST00000534061	NM_005467.3			0	1	1	UPI0000031A85	0		ENST00000534061		ENSG00000077616	14526		26			HGNC	-		NAALAD2		SNV							ENST00000525497	protein_coding							A		-/3600				E9PJ53_HUMAN,E9PII2_HUMAN			YES	NAALAD2,splice_acceptor_variant,,ENST00000534061,NM_005467.3;NAALAD2,splice_acceptor_variant,,ENST00000321955,;NAALAD2,splice_acceptor_variant,,ENST00000525171,;NAALAD2,splice_acceptor_variant,,ENST00000375944,;NAALAD2,splice_acceptor_variant,,ENST00000525497,;NAALAD2,splice_acceptor_variant,,ENST00000526637,;NAALAD2,splice_acceptor_variant,,ENST00000524501,;NAALAD2,splice_acceptor_variant,,ENST00000527493,;NAALAD2,splice_acceptor_variant,,ENST00000529090,;							HIGH	83/2223		NALD2_HUMAN			Transcript			.	ENSP00000432481		CCDS8288.1			1	
EHBP1L1	0	LGGM	GRCh37	11	65351753	65351753	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	37	11	.	.	ENST00000309295.4:c.3135G>T	p.Glu1045Asp	p.E1045D	ENST00000309295	NM_001099409.1	1045	gaG/gaT	0	1	1	UPI00001605A9	0	getma.org/pdb.php?prot=EH1L1_HUMAN&from=1040&to=1142&var=E1045D	ENST00000309295		ENSG00000173442	30682		48	1.425		HGNC	p.E462D		EHBP1L1		SNV							ENST00000533237	protein_coding	getma.org/?cm=var&var=hg19,11,65351753,G,T&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF112,SMART_domains:SM00033,Superfamily_domains:SSF47576		E/D		T	low	3400/5185		getma.org/?cm=msa&ty=f&p=EH1L1_HUMAN&rb=1040&re=1142&var=E1045D	tolerated(0.05)				YES	EHBP1L1,missense_variant,p.Glu1045Asp,ENST00000309295,NM_001099409.1;EHBP1L1,missense_variant,p.Glu462Asp,ENST00000533237,;EHBP1L1,missense_variant,p.Glu95Asp,ENST00000533465,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;							MODERATE	3135/4572	E1045D	EH1L1_HUMAN			Transcript		benign(0.262)	.	ENSP00000312671		CCDS44649.1			1	
CD44	0	LGGM	GRCh37	11	35226147	35226147	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	34	11	.	.	ENST00000428726.2:c.1242A>G	p.Gln414=	p.Q414=	ENST00000428726	NM_000610.3	414	caA/caG	0	1	1	UPI000013D3FE	0		ENST00000428726		ENSG00000026508	1681		45			HGNC	p.Q126Q		CD44		SNV			1				ENST00000531110	protein_coding			hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6		Q		G		1365/3046				E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN			YES	CD44,synonymous_variant,p.=,ENST00000428726,NM_000610.3;CD44,synonymous_variant,p.=,ENST00000433354,;CD44,synonymous_variant,p.=,ENST00000415148,NM_001001389.1;CD44,synonymous_variant,p.=,ENST00000437706,;CD44,synonymous_variant,p.=,ENST00000531110,;CD44,synonymous_variant,p.=,ENST00000528672,;CD44,synonymous_variant,p.=,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,;							LOW	1242/2229		CD44_HUMAN			Transcript			.	ENSP00000398632		CCDS7897.1			1	
STAG3	0	LGGM	GRCh37	7	99802907	99802907	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	39	12	.	.	ENST00000426455.1:c.3138G>C	p.Trp1046Cys	p.W1046C	ENST00000426455	NM_001282716.1	1046	tgG/tgC	0	1		UPI000020F6E0	0	NA	ENST00000317296		ENSG00000066923	11356		51	2.675		HGNC	p.W1046C		STAG3		SNV							ENST00000426455	protein_coding	getma.org/?cm=var&var=hg19,7,99802907,G,C&fts=all		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF4		W/C		C	medium	3292/4198		getma.org/?cm=msa&ty=f&p=STAG3_HUMAN&rb=890&re=1089&var=W1046C	deleterious(0)	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN				STAG3,missense_variant,p.Trp1046Cys,ENST00000426455,NM_001282716.1;STAG3,missense_variant,p.Trp1046Cys,ENST00000317296,NM_012447.2,NM_001282717.1;STAG3,missense_variant,p.Trp988Cys,ENST00000394018,NM_001282718.1;STAG3,missense_variant,p.Trp4Cys,ENST00000412190,;GATS,intron_variant,,ENST00000436886,NM_178831.6;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;GATS,intron_variant,,ENST00000543273,;GATS,intron_variant,,ENST00000454084,;GATS,intron_variant,,ENST00000440058,;GATS,intron_variant,,ENST00000414997,;GATS,intron_variant,,ENST00000437485,;STAG3,intron_variant,,ENST00000496157,;STAG3,upstream_gene_variant,,ENST00000451963,;STAG3,downstream_gene_variant,,ENST00000479359,;STAG3,downstream_gene_variant,,ENST00000476057,;							MODERATE	3138/3678	W1046C	STAG3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000319318		CCDS34703.1			1	
URB1	0	LGGM	GRCh37	21	33717048	33717048	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	48	12	.	.	ENST00000382751.3:c.4088C>G	p.Ser1363Cys	p.S1363C	ENST00000382751	NM_014825.2	1363	tCc/tGc	0	1	1	UPI0000185F65	0	NA	ENST00000382751		ENSG00000142207	17344		60	1.78		HGNC	p.S1363C		URB1		SNV							ENST00000382751	protein_coding	getma.org/?cm=var&var=hg19,21,33717048,G,C&fts=all		hmmpanther:PTHR13500		S/C		C	low	4204/10832		getma.org/?cm=msa&ty=f&p=NPA1P_HUMAN&rb=1195&re=1394&var=S1363C	tolerated(0.1)				YES	URB1,missense_variant,p.Ser1363Cys,ENST00000382751,NM_014825.2;RN7SL109P,upstream_gene_variant,,ENST00000493105,;							MODERATE	4088/6816	S1363C	NPA1P_HUMAN			Transcript		benign(0.15)	.	ENSP00000372199		CCDS46645.1			1	
DAB2	0	LGGM	GRCh37	5	39383228	39383228	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080540	H080540N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	73	13	.	.	ENST00000320816.6:c.833A>T	p.Asn278Ile	p.N278I	ENST00000320816	NM_001343.3	278	aAt/aTt	0	1	1	UPI0000169E27	0	NA	ENST00000320816		ENSG00000153071	2662		86	1.78		HGNC	p.N278I		DAB2		SNV							ENST00000320816	protein_coding	getma.org/?cm=var&var=hg19,5,39383228,T,A&fts=all		hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF30		N/I		A	low	1301/4534		getma.org/?cm=msa&ty=f&p=DAB2_HUMAN&rb=181&re=768&var=N278I	deleterious(0.03)	D6RIA5_HUMAN,D6RGZ1_HUMAN,D6REB1_HUMAN			YES	DAB2,missense_variant,p.Asn257Ile,ENST00000545653,NM_001244871.1;DAB2,missense_variant,p.Asn278Ile,ENST00000320816,NM_001343.3;DAB2,missense_variant,p.Asn257Ile,ENST00000509337,;DAB2,intron_variant,,ENST00000339788,;C9,intron_variant,,ENST00000483232,;DAB2,downstream_gene_variant,,ENST00000512525,;DAB2,downstream_gene_variant,,ENST00000505968,;							MODERATE	833/2313	N278I	DAB2_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000313391		CCDS34149.1			1	
NWD1	0	LGGM	GRCh37	19	16860640	16860640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	14	13	.	.	ENST00000524140.2:c.1187C>A	p.Ala396Asp	p.A396D	ENST00000524140	NM_001007525.3	396	gCc/gAc	0	1		UPI0001AE63B7	0	NA	ENST00000552788		ENSG00000188039	27619		27	2.395		HGNC	p.A396D		NWD1		SNV							ENST00000549814	protein_coding	getma.org/?cm=var&var=hg19,19,16860640,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF05729,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273,Superfamily_domains:SSF52540		A/D		A	medium	1187/6964		getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=335&re=511&var=A396D	deleterious(0)	E9PBV1_HUMAN				NWD1,missense_variant,p.Ala396Asp,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Ala396Asp,ENST00000552788,;NWD1,missense_variant,p.Ala396Asp,ENST00000549814,;NWD1,missense_variant,p.Ala190Asp,ENST00000523826,;NWD1,missense_variant,p.Ala396Asp,ENST00000379808,;NWD1,missense_variant,p.Ala261Asp,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							MODERATE	1187/4695	A396D	NWD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000447224					1	
JAG1	0	LGGM	GRCh37	20	10639128	10639128	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	59	14	.	.	ENST00000254958.5:c.682G>A	p.Glu228Lys	p.E228K	ENST00000254958	NM_000214.2	228	Gaa/Aaa	0	1	1	UPI00000498B5	0	getma.org/pdb.php?prot=JAG1_HUMAN&from=167&to=229&var=E228K	ENST00000254958		ENSG00000101384	6188		73	1.675		HGNC	p.E69K	COSM1024469,COSM1024470	JAG1		SNV			1			1,1	ENST00000423891	protein_coding	getma.org/?cm=var&var=hg19,20,10639128,C,T&fts=all		Gene3D:2gy5A03,Pfam_domain:PF01414,PROSITE_profiles:PS51051,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF212,SMART_domains:SM00051		E/K		T	low	1198/5987		getma.org/?cm=msa&ty=f&p=JAG1_HUMAN&rb=167&re=229&var=E228K	deleterious(0.02)	B7U6M8_HUMAN,B4DYR1_HUMAN			YES	JAG1,missense_variant,p.Glu228Lys,ENST00000254958,NM_000214.2;JAG1,missense_variant,p.Glu69Lys,ENST00000423891,;					1,1		MODERATE	682/3657	E228K	JAG1_HUMAN			Transcript		benign(0.253)	.	ENSP00000254958		CCDS13112.1			1	
EYA4	0	LGGM	GRCh37	6	133767860	133767860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	57	14	.	.	ENST00000367895.5:c.176G>T	p.Ser59Ile	p.S59I	ENST00000367895	NM_004100.4	59	aGc/aTc	0	1	1	UPI000013D649	0	NA	ENST00000367895		ENSG00000112319	3522		71	0.55		HGNC	p.S59I		EYA4		SNV			1				ENST00000431403	protein_coding	getma.org/?cm=var&var=hg19,6,133767860,G,T&fts=all		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF17,Low_complexity_(Seg):seg		S/I		T	neutral	640/5699		getma.org/?cm=msa&ty=f&p=EYA4_HUMAN&rb=28&re=637&var=S59I	deleterious_low_confidence(0.04)				YES	EYA4,missense_variant,p.Ser59Ile,ENST00000367895,NM_004100.4;EYA4,missense_variant,p.Ser59Ile,ENST00000355167,NM_172105.3;EYA4,missense_variant,p.Ser59Ile,ENST00000355286,NM_172103.3;EYA4,missense_variant,p.Ser59Ile,ENST00000525849,;EYA4,missense_variant,p.Ser59Ile,ENST00000531901,;EYA4,missense_variant,p.Ser59Ile,ENST00000452339,;EYA4,missense_variant,p.Ser59Ile,ENST00000430974,;EYA4,missense_variant,p.Ser59Ile,ENST00000431403,;EYA4,non_coding_transcript_exon_variant,,ENST00000531861,;EYA4,non_coding_transcript_exon_variant,,ENST00000421413,;EYA4,non_coding_transcript_exon_variant,,ENST00000525614,;							MODERATE	176/1920	S59I	EYA4_HUMAN			Transcript		benign(0.139)	.	ENSP00000356870		CCDS5165.1			1	
UBN1	0	LGGM	GRCh37	16	4909943	4909943	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	43	15	.	.	ENST00000396658.4:c.645G>A	p.Ser215=	p.S215=	ENST00000396658	NM_016936.3	215	tcG/tcA	0	1		UPI0000071469	0		ENST00000262376		ENSG00000118900	12506		58			HGNC	p.S215S		UBN1		SNV							ENST00000545171	protein_coding			hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF14,Low_complexity_(Seg):seg		S		A		1264/6252				K7EQR1_HUMAN				UBN1,synonymous_variant,p.=,ENST00000396658,NM_016936.3;UBN1,synonymous_variant,p.=,ENST00000262376,NM_001079514.1;UBN1,synonymous_variant,p.=,ENST00000545171,NM_001288656.1;UBN1,synonymous_variant,p.=,ENST00000590769,;UBN1,downstream_gene_variant,,ENST00000592120,;UBN1,upstream_gene_variant,,ENST00000585857,;UBN1,3_prime_UTR_variant,,ENST00000587027,;							LOW	645/3405		UBN1_HUMAN			Transcript			.	ENSP00000262376		CCDS10525.1			1	
FUT8	0	LGGM	GRCh37	14	66208889	66208889	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080540	H080540N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	81	15	.	.	ENST00000360689.5:c.1489T>C	p.Tyr497His	p.Y497H	ENST00000360689	NM_178155.2	497	Tac/Cac	0	1	1	UPI000000DCC9	0	getma.org/pdb.php?prot=FUT8_HUMAN&from=300&to=499&var=Y497H	ENST00000360689		ENSG00000033170	4019		96	3.325		HGNC	p.Y91H		FUT8		SNV							ENST00000417683	protein_coding	getma.org/?cm=var&var=hg19,14,66208889,T,C&fts=all		hmmpanther:PTHR13132,PIRSF_domain:PIRSF000472		Y/H		C	medium	3216/5166		getma.org/?cm=msa&ty=f&p=FUT8_HUMAN&rb=300&re=499&var=Y497H	deleterious(0)	Q546E0_HUMAN,G3V5Z4_HUMAN,G3V5E3_HUMAN,G3V530_HUMAN,G3V509_HUMAN,G3V4A8_HUMAN			YES	FUT8,missense_variant,p.Tyr497His,ENST00000360689,NM_178155.2,NM_004480.4;FUT8,missense_variant,p.Tyr497His,ENST00000394586,NM_178156.2;FUT8,missense_variant,p.Tyr497His,ENST00000394585,;FUT8,missense_variant,p.Tyr368His,ENST00000358307,;FUT8,missense_variant,p.Tyr334His,ENST00000557164,;FUT8,missense_variant,p.Tyr91His,ENST00000417683,;FUT8,3_prime_UTR_variant,,ENST00000342677,;							MODERATE	1489/1728	Y497H	FUT8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353910		CCDS9775.1			1	
TPP2	0	LGGM	GRCh37	13	103280246	103280246	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	15	16	.	.	ENST00000376065.4:c.988G>A	p.Gly330Arg	p.G330R	ENST00000376065	NM_003291.2	330	Gga/Aga	0	1	1	UPI0000001C91	0	getma.org/pdb.php?prot=TPP2_HUMAN&from=39&to=509&var=G330R	ENST00000376065		ENSG00000134900	12016		31	4.115		HGNC	p.G330R		TPP2		SNV							ENST00000376065	protein_coding	getma.org/?cm=var&var=hg19,13,103280246,G,A&fts=all		Superfamily_domains:SSF52743,Gene3D:3.40.50.200,Pfam_domain:PF00082,hmmpanther:PTHR10795		G/R		A	high	1024/3931		getma.org/?cm=msa&ty=f&p=TPP2_HUMAN&rb=39&re=509&var=G330R	deleterious(0)				YES	TPP2,missense_variant,p.Gly330Arg,ENST00000376052,;TPP2,missense_variant,p.Gly330Arg,ENST00000376065,NM_003291.2;TPP2,non_coding_transcript_exon_variant,,ENST00000493770,;TPP2,non_coding_transcript_exon_variant,,ENST00000496126,;							MODERATE	988/3750	G330R	TPP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000365233		CCDS9502.1			1	
GRIA4	0	LGGM	GRCh37	11	105789513	105789513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	23	17	.	.	ENST00000282499.5:c.1345G>T	p.Asp449Tyr	p.D449Y	ENST00000282499	NM_000829.3	449	Gat/Tat	0	1	1	UPI000013DCE6	0	getma.org/pdb.php?prot=GRIA4_HUMAN&from=426&to=491&var=D449Y	ENST00000282499		ENSG00000152578	4574		40	4.045		HGNC	p.D449Y	rs776790088	GRIA4	6.10E-05	SNV							ENST00000282499	protein_coding	getma.org/?cm=var&var=hg19,11,105789513,G,T&fts=all		hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Pfam_domain:PF10613,Gene3D:3.40.190.10,SMART_domains:SM00918,SMART_domains:SM00079,Superfamily_domains:SSF53850		D/Y		T	high	1791/5508		getma.org/?cm=msa&ty=f&p=GRIA4_HUMAN&rb=426&re=491&var=D449Y	deleterious(0)	E9PJZ5_HUMAN			YES	GRIA4,missense_variant,p.Asp449Tyr,ENST00000393127,NM_001077243.2;GRIA4,missense_variant,p.Asp449Tyr,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Asp449Tyr,ENST00000530497,;GRIA4,missense_variant,p.Asp449Tyr,ENST00000525187,;							MODERATE	1345/2709	D449Y	GRIA4_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000282499	8.24E-06	CCDS8333.1			1	
MAU2	0	LGGM	GRCh37	19	19453428	19453428	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	61	18	.	.	ENST00000392313.6:c.820A>T	p.Ser274Cys	p.S274C	ENST00000392313	NM_015329.3	274	Agc/Tgc	0	1		UPI00020653CC	0	NA	ENST00000262815		ENSG00000129933	29140		79	1.39		HGNC	p.S274C		MAU2		SNV							ENST00000262815	protein_coding	getma.org/?cm=var&var=hg19,19,19453428,A,T&fts=all		Pfam_domain:PF10345,hmmpanther:PTHR21394		S/C		T	low	859/4853		getma.org/?cm=msa&ty=f&p=SCC4_HUMAN&rb=23&re=570&var=S274C	tolerated(0.05)	G8JL95_HUMAN				MAU2,missense_variant,p.Ser274Cys,ENST00000262815,;MAU2,missense_variant,p.Ser274Cys,ENST00000392313,NM_015329.3;MAU2,missense_variant,p.Ser142Cys,ENST00000609060,;MAU2,downstream_gene_variant,,ENST00000609122,;MAU2,non_coding_transcript_exon_variant,,ENST00000585823,;MAU2,downstream_gene_variant,,ENST00000586189,;MAU2,non_coding_transcript_exon_variant,,ENST00000587938,;MAU2,non_coding_transcript_exon_variant,,ENST00000590837,;MAU2,upstream_gene_variant,,ENST00000262816,;MAU2,upstream_gene_variant,,ENST00000587638,;MAU2,upstream_gene_variant,,ENST00000587362,;							MODERATE	820/1842	S274C				Transcript		benign(0.015)	.	ENSP00000262815					1	
ZNF320	0	LGGM	GRCh37	19	53384106	53384106	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080540	H080540N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	43	19	.	.	ENST00000595635.1:c.1273A>G	p.Lys425Glu	p.K425E	ENST00000595635	NM_207333.2	425	Aaa/Gaa	0	1		UPI00004EC06C	0	getma.org/pdb.php?prot=ZN320_HUMAN&from=425&to=426&var=K425E	ENST00000391781		ENSG00000182986	13842		62	1.4		HGNC	p.K425E		ZNF320		SNV							ENST00000595635	protein_coding	getma.org/?cm=var&var=hg19,19,53384106,T,C&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF197,PROSITE_profiles:PS50157		K/E		C	low	1357/6038		getma.org/?cm=msa&ty=f&p=ZN320_HUMAN&rb=395&re=456&var=K425E	tolerated(0.14)	Q6ZP55_HUMAN,M0R2L4_HUMAN,M0R1K6_HUMAN,M0R0Z8_HUMAN,M0QZA2_HUMAN				ZNF320,missense_variant,p.Lys425Glu,ENST00000595635,NM_207333.2;ZNF320,missense_variant,p.Lys425Glu,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,;							MODERATE	1273/1530	K425E	ZN320_HUMAN			Transcript		benign(0.13)	.	ENSP00000375660		CCDS33095.1			1	
FBLN1	0	LGGM	GRCh37	22	45929715	45929715	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	45	21	.	.	ENST00000327858.6:c.721C>T	p.Arg241Cys	p.R241C	ENST00000327858	NM_006486.2	241	Cgc/Tgc	0	1	1	UPI00001AE84C	0	NA	ENST00000327858		ENSG00000077942	3600		66	2.175		HGNC	p.R279C	rs751912120,COSM1416812,COSM1416813,COSM3555363,COSM1416814	FBLN1		SNV			1			0,1,1,1,1	ENST00000402984	protein_coding	getma.org/?cm=var&var=hg19,22,45929715,C,T&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00179,PIRSF_domain:PIRSF036313,SMART_domains:SM00181,Superfamily_domains:SSF57196		R/C		T	medium	816/2896	4.52E-05	getma.org/?cm=msa&ty=f&p=FBLN1_HUMAN&rb=216&re=260&var=R241C	deleterious(0)	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN			YES	FBLN1,missense_variant,p.Arg241Cys,ENST00000348697,;FBLN1,missense_variant,p.Arg241Cys,ENST00000327858,NM_006486.2;FBLN1,missense_variant,p.Arg241Cys,ENST00000442170,NM_006485.3;FBLN1,missense_variant,p.Arg279Cys,ENST00000402984,;FBLN1,missense_variant,p.Arg241Cys,ENST00000340923,NM_006487.2;FBLN1,missense_variant,p.Arg241Cys,ENST00000262722,NM_001996.3;FBLN1,missense_variant,p.Arg161Cys,ENST00000451475,;FBLN1,downstream_gene_variant,,ENST00000455233,;FBLN1,downstream_gene_variant,,ENST00000411478,;FBLN1,downstream_gene_variant,,ENST00000454279,;FBLN1,missense_variant,p.Arg136Cys,ENST00000437711,;FBLN1,non_coding_transcript_exon_variant,,ENST00000460538,;FBLN1,non_coding_transcript_exon_variant,,ENST00000465578,;FBLN1,non_coding_transcript_exon_variant,,ENST00000484531,;					0,1,1,1,1		MODERATE	721/2112	R241C	FBLN1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000331544	2.47E-05	CCDS14067.1			1	
CTNNA2	0	LGGM	GRCh37	2	80620365	80620365	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	68	24	.	.	ENST00000466387.1:c.1086C>A	p.Leu362=	p.L362=	ENST00000466387		362	ctC/ctA	0	1		UPI0000D9D4EC	0		ENST00000402739		ENSG00000066032	2510		92			HGNC	p.L362L		CTNNA2		SNV							ENST00000496558	protein_coding			Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		L		A		1091/3684				C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.1;CTNNA2,synonymous_variant,p.=,ENST00000541047,;CTNNA2,synonymous_variant,p.=,ENST00000343114,NM_001282600.1,NM_001282599.1;CTNNA2,synonymous_variant,p.=,ENST00000361291,;CTNNA2,synonymous_variant,p.=,ENST00000540488,;CTNNA2,synonymous_variant,p.=,ENST00000409550,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000493024,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000465616,;							LOW	1086/2862		CTNA2_HUMAN			Transcript			.	ENSP00000384638		CCDS62944.1			1	
EIF2S3	0	LGGM	GRCh37	X	24086099	24086099	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	84	36	.	.	ENST00000253039.4:c.886G>C	p.Val296Leu	p.V296L	ENST00000253039	NM_001415.3	296	Gta/Cta	0	1	1	UPI0000163BD6	0	getma.org/pdb.php?prot=IF2GL_HUMAN&from=276&to=359&var=V296L	ENST00000253039		ENSG00000130741	3267		120	2.555		HGNC	p.V296L		EIF2S3		SNV							ENST00000253039	protein_coding	getma.org/?cm=var&var=hg19,X,24086099,G,C&fts=all		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF94,Pfam_domain:PF03144,Gene3D:2.40.30.10,Superfamily_domains:SSF50447		V/L		C	medium	1139/2858		getma.org/?cm=msa&ty=f&p=IF2GL_HUMAN&rb=276&re=359&var=V296L	tolerated(0.07)				YES	EIF2S3,missense_variant,p.Val296Leu,ENST00000253039,NM_001415.3;EIF2S3,upstream_gene_variant,,ENST00000460032,;							MODERATE	886/1419	V296L	IF2G_HUMAN			Transcript		benign(0.026)	.	ENSP00000253039		CCDS14210.1			1	
TTC23L	0	LGGM	GRCh37	5	34850306	34850306	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080540	H080540N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	115	37	.	.	ENST00000505624.1:c.272A>G	p.Lys91Arg	p.K91R	ENST00000505624	NM_144725.3	91	aAg/aGg	0	1	1	UPI000013F897	0	NA	ENST00000505624		ENSG00000205838	26355		152	1.465		HGNC	p.K91R		TTC23L		SNV							ENST00000502674	protein_coding	getma.org/?cm=var&var=hg19,5,34850306,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14485:SF1,hmmpanther:PTHR14485		K/R		G	low	375/1353		getma.org/?cm=msa&ty=f&p=TT23L_HUMAN&rb=1&re=200&var=K91R	tolerated(0.68)				YES	TTC23L,missense_variant,p.Lys91Arg,ENST00000505624,NM_144725.3;TTC23L,non_coding_transcript_exon_variant,,ENST00000514080,;TTC23L,non_coding_transcript_exon_variant,,ENST00000506758,;TTC23L,intron_variant,,ENST00000502782,;TTC23L,missense_variant,p.Lys91Arg,ENST00000502674,;TTC23L,intron_variant,,ENST00000508722,;TTC23L,downstream_gene_variant,,ENST00000508377,;							MODERATE	272/1086	K91R	TT23L_HUMAN			Transcript		benign(0.018)	.	ENSP00000422188		CCDS54840.1			1	
C9orf131	0	LGGM	GRCh37	9	35044454	35044454	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080540	H080540N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	102	38	.	.	ENST00000312292.5:c.1828G>T	p.Asp610Tyr	p.D610Y	ENST00000312292	NM_203299.2	610	Gac/Tac	0	1	1	UPI00001605AC	0	NA	ENST00000312292		ENSG00000174038	31418		140	1.935		HGNC	p.D537Y		C9orf131		SNV							ENST00000354479	protein_coding	getma.org/?cm=var&var=hg19,9,35044454,G,T&fts=all		hmmpanther:PTHR21777		D/Y		T	medium	1875/3409		getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=235&re=900&var=D610Y	deleterious(0.04)				YES	C9orf131,missense_variant,p.Asp610Tyr,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.Asp562Tyr,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.Asp537Tyr,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,;							MODERATE	1828/3240	D610Y	CI131_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000308279		CCDS6572.2			1	
ZCCHC8	0	LGGM	GRCh37	12	122958163	122958163	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080540	H080540N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080540N.bam, H080540T.bam	Illumina HiSeq	101	76	.	.	ENST00000336229.4:c.2005G>A	p.Gly669Arg	p.G669R	ENST00000336229	NM_017612.3	669	Gga/Aga	0	1	1	UPI00001E0582	0	NA	ENST00000336229		ENSG00000033030	25265		177	2.295		HGNC	p.G431R		ZCCHC8		SNV							ENST00000536306	protein_coding	getma.org/?cm=var&var=hg19,12,122958163,C,T&fts=all		hmmpanther:PTHR13316,hmmpanther:PTHR13316:SF0		G/R		T	medium	2136/2862		getma.org/?cm=msa&ty=f&p=ZCHC8_HUMAN&rb=407&re=702&var=G669R	deleterious(0)	F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN			YES	ZCCHC8,missense_variant,p.Gly431Arg,ENST00000543897,;ZCCHC8,missense_variant,p.Gly431Arg,ENST00000536306,;ZCCHC8,missense_variant,p.Gly669Arg,ENST00000336229,NM_017612.3;ZCCHC8,missense_variant,p.Gly280Arg,ENST00000538116,;ZCCHC8,downstream_gene_variant,,ENST00000542892,;ZCCHC8,downstream_gene_variant,,ENST00000544054,;ZCCHC8,downstream_gene_variant,,ENST00000536663,;							MODERATE	2005/2124	G669R	ZCHC8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337313					1	
STK11	0	LGGM	GRCh37	19	1220660	1220660	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	5	2	.	.	ENST00000326873.7:c.678C>A	p.Asn226Lys	p.N226K	ENST00000326873	NM_000455.4	226	aaC/aaA	0	1	1	UPI0000136105	0	getma.org/pdb.php?prot=STK11_HUMAN&from=49&to=309&var=N226K	ENST00000326873		ENSG00000118046	11389		7	0.46		HGNC	p.N226K		STK11		SNV			1				ENST00000326873	protein_coding	getma.org/?cm=var&var=hg19,19,1220660,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF1,SMART_domains:SM00220,Superfamily_domains:SSF56112		N/K		A	neutral	1851/3328		getma.org/?cm=msa&ty=f&p=STK11_HUMAN&rb=49&re=309&var=N226K	deleterious(0.01)	Q9NS52_HUMAN			YES	STK11,missense_variant,p.Asn226Lys,ENST00000326873,NM_000455.4;STK11,upstream_gene_variant,,ENST00000586243,;STK11,downstream_gene_variant,,ENST00000585851,;STK11,downstream_gene_variant,,ENST00000585748,;STK11,3_prime_UTR_variant,,ENST00000593219,;STK11,non_coding_transcript_exon_variant,,ENST00000589152,;STK11,non_coding_transcript_exon_variant,,ENST00000591133,;STK11,non_coding_transcript_exon_variant,,ENST00000586358,;STK11,upstream_gene_variant,,ENST00000585465,;							MODERATE	678/1302	N226K	STK11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324856		CCDS45896.1			1	
MVB12A	0	LGGM	GRCh37	19	17534607	17534607	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	10	2	.	.	ENST00000317040.7:c.639A>G	p.Ser213=	p.S213=	ENST00000317040		213	tcA/tcG	0	1	1	UPI0000039EC7	0		ENST00000317040		ENSG00000141971	25153		12			HGNC	p.Q171R		MVB12A		SNV							ENST00000528515	protein_coding			Pfam_domain:PF10240,hmmpanther:PTHR31612,hmmpanther:PTHR31612:SF1		S		G		1694/2216				E9PLZ8_HUMAN,E9PLL0_HUMAN			YES	MVB12A,missense_variant,p.Gln171Arg,ENST00000528515,;MVB12A,splice_region_variant,p.=,ENST00000317040,;MVB12A,splice_region_variant,p.=,ENST00000543795,NM_138401.2;MVB12A,splice_region_variant,p.=,ENST00000392702,;MVB12A,splice_region_variant,p.=,ENST00000529939,;MVB12A,splice_region_variant,p.=,ENST00000594784,;MVB12A,splice_region_variant,p.=,ENST00000528604,;MVB12A,synonymous_variant,p.=,ENST00000528911,;MVB12A,synonymous_variant,p.=,ENST00000600514,;MVB12A,downstream_gene_variant,,ENST00000528659,;CTD-2521M24.9,downstream_gene_variant,,ENST00000601007,;CTD-2521M24.9,downstream_gene_variant,,ENST00000599975,;CTD-2521M24.6,upstream_gene_variant,,ENST00000593957,;CTD-2521M24.8,upstream_gene_variant,,ENST00000597028,;MVB12A,downstream_gene_variant,,ENST00000529490,;MVB12A,splice_region_variant,,ENST00000524382,;MVB12A,downstream_gene_variant,,ENST00000526234,;MVB12A,downstream_gene_variant,,ENST00000528997,;MVB12A,downstream_gene_variant,,ENST00000528732,;							LOW	639/822		MB12A_HUMAN			Transcript			.	ENSP00000324810		CCDS12359.1			1	
DCBLD1	0	LGGM	GRCh37	6	117859944	117859944	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	2	.	.	ENST00000296955.8:c.922C>G	p.His308Asp	p.H308D	ENST00000296955	NM_173674.1	308	Cac/Gac	0	1		UPI000021D1F9	0	getma.org/pdb.php?prot=DCBD1_HUMAN&from=266&to=409&var=H308D	ENST00000338728		ENSG00000164465	21479		20	0.205		HGNC	p.H308D		DCBLD1		SNV							ENST00000296955	protein_coding	getma.org/?cm=var&var=hg19,6,117859944,C,G&fts=all		PROSITE_profiles:PS50022,hmmpanther:PTHR24543,hmmpanther:PTHR24543:SF123,PROSITE_patterns:PS01285,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785		H/D		G	neutral	1042/3626		getma.org/?cm=msa&ty=f&p=DCBD1_HUMAN&rb=266&re=409&var=H308D	deleterious(0.02)	Q68DD5_HUMAN				DCBLD1,missense_variant,p.His308Asp,ENST00000338728,;DCBLD1,missense_variant,p.His308Asp,ENST00000296955,NM_173674.1;DCBLD1,intron_variant,,ENST00000368503,;GOPC,intron_variant,,ENST00000467125,;DCBLD1,upstream_gene_variant,,ENST00000534777,;DCBLD1,upstream_gene_variant,,ENST00000478345,;DCBLD1,missense_variant,p.His3Asp,ENST00000424717,;DCBLD1,non_coding_transcript_exon_variant,,ENST00000533453,;							MODERATE	922/2148	H308D	DCBD1_HUMAN			Transcript		benign(0.009)	.	ENSP00000342422					1	
MFI2	0	LGGM	GRCh37	3	196735596	196735596	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	34	3	.	.	ENST00000296350.5:c.1683-1G>T		p.X561_splice	ENST00000296350	NM_005929.5			0	1	1	UPI000013E329	0		ENST00000296350		ENSG00000163975	7037		37			HGNC	-		MFI2		SNV							ENST00000296350	protein_coding							A		-/3963							YES	MFI2,splice_acceptor_variant,,ENST00000296350,NM_005929.5;MFI2-AS1,downstream_gene_variant,,ENST00000415244,;MFI2-AS1,downstream_gene_variant,,ENST00000414354,;MFI2-AS1,downstream_gene_variant,,ENST00000424769,;MFI2-AS1,downstream_gene_variant,,ENST00000437064,;MFI2-AS1,downstream_gene_variant,,ENST00000446695,;MFI2,upstream_gene_variant,,ENST00000469783,;							HIGH	1683/2217		TRFM_HUMAN			Transcript			.	ENSP00000296350		CCDS3325.1			1	
GPR135	0	LGGM	GRCh37	14	59930700	59930700	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	3	.	.	ENST00000395116.1:c.1245G>T	p.Leu415=	p.L415=	ENST00000395116	NM_022571.5	415	ctG/ctT	0	1	1	UPI0000046D5B	0		ENST00000395116		ENSG00000181619	19991		21			HGNC	p.L415L		GPR135		SNV							ENST00000395116	protein_coding			hmmpanther:PTHR22752,hmmpanther:PTHR22752:SF3		L		A		1361/4578							YES	GPR135,synonymous_variant,p.=,ENST00000395116,NM_022571.5;L3HYPDH,intron_variant,,ENST00000466522,;GPR135,synonymous_variant,p.=,ENST00000481661,NM_022571.5;							LOW	1245/1485		GP135_HUMAN			Transcript			.	ENSP00000378548		CCDS9738.1			1	
PAQR5	0	LGGM	GRCh37	15	69682026	69682026	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	34	3	.	.	ENST00000340965.3:c.419C>A	p.Pro140Gln	p.P140Q	ENST00000340965	NM_001104554.1	140	cCg/cAg	0	1	1	UPI000013D0D0	0	NA	ENST00000340965		ENSG00000137819	29645		37	2.945		HGNC	p.P96Q		PAQR5		SNV							ENST00000558684	protein_coding	getma.org/?cm=var&var=hg19,15,69682026,C,A&fts=all		hmmpanther:PTHR20855:SF38,hmmpanther:PTHR20855,Pfam_domain:PF03006		P/Q		A	medium	1087/5480		getma.org/?cm=msa&ty=f&p=MPRG_HUMAN&rb=43&re=269&var=P140Q	deleterious(0)	H0YL06_HUMAN			YES	PAQR5,missense_variant,p.Pro140Gln,ENST00000340965,NM_001104554.1;PAQR5,missense_variant,p.Pro140Gln,ENST00000395407,NM_017705.3;PAQR5,missense_variant,p.Pro140Gln,ENST00000561153,;PAQR5,missense_variant,p.Pro96Gln,ENST00000558684,;RP11-253M7.6,upstream_gene_variant,,ENST00000560870,;PAQR5,non_coding_transcript_exon_variant,,ENST00000561027,;							MODERATE	419/993	P140Q	MPRG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343877		CCDS10232.1			1	
ITGB4	0	LGGM	GRCh37	17	73736924	73736924	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	26	3	.	.	ENST00000200181.3:c.2601C>A	p.Thr867=	p.T867=	ENST00000200181	NM_000213.3	867	acC/acA	0	1	1	UPI00001AE5C0	0		ENST00000200181		ENSG00000132470	6158		29			HGNC	p.T867T		ITGB4		SNV			1				ENST00000450894	protein_coding			hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513		T		A		2788/5919							YES	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,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;ITGB4,upstream_gene_variant,,ENST00000584025,;							LOW	2601/5469		ITB4_HUMAN			Transcript			.	ENSP00000200181		CCDS11727.1			1	
DOLK	0	LGGM	GRCh37	9	131708256	131708256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	40	3	.	.	ENST00000372586.3:c.1327G>T	p.Gly443Cys	p.G443C	ENST00000372586	NM_014908.3	443	Ggt/Tgt	0	1	1	UPI0000001C36	0	NA	ENST00000372586		ENSG00000175283	23406		43	3.275		HGNC	p.G443C	rs771383896	DOLK		SNV			1				ENST00000372586	protein_coding	getma.org/?cm=var&var=hg19,9,131708256,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13205,hmmpanther:PTHR13205:SF14		G/C		A	medium	1643/2090	1.50E-05	getma.org/?cm=msa&ty=f&p=DOLK_HUMAN&rb=1&re=537&var=G443C	deleterious(0)				YES	DOLK,missense_variant,p.Gly443Cys,ENST00000372586,NM_014908.3;RP11-101E3.5,intron_variant,,ENST00000482796,;NUP188,upstream_gene_variant,,ENST00000372577,NM_015354.2;PHYHD1,downstream_gene_variant,,ENST00000372592,NM_001100876.1;PHYHD1,downstream_gene_variant,,ENST00000308941,NM_174933.3;PHYHD1,downstream_gene_variant,,ENST00000353176,;PHYHD1,downstream_gene_variant,,ENST00000421063,NM_001100877.1;PHYHD1,downstream_gene_variant,,ENST00000442837,;PHYHD1,downstream_gene_variant,,ENST00000419872,;NUP188,upstream_gene_variant,,ENST00000550219,;PHYHD1,downstream_gene_variant,,ENST00000487504,;NUP188,upstream_gene_variant,,ENST00000491990,;PHYHD1,downstream_gene_variant,,ENST00000412476,;NUP188,upstream_gene_variant,,ENST00000464729,;							MODERATE	1327/1617	G443C	DOLK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361667	8.24E-06	CCDS6915.1			1	
PTPRO	0	LGGM	GRCh37	12	15731792	15731792	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	3	.	.	ENST00000281171.4:c.2835G>A	p.Leu945=	p.L945=	ENST00000281171	NM_030667.2	945	ttG/ttA	0	1	1	UPI000013DC62	0		ENST00000281171		ENSG00000151490	9678		21			HGNC	p.L945L		PTPRO		SNV			1				ENST00000281171	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		L		A		3165/5301				B4DS16_HUMAN			YES	PTPRO,synonymous_variant,p.=,ENST00000281171,NM_030667.2;PTPRO,synonymous_variant,p.=,ENST00000348962,NM_002848.3;PTPRO,synonymous_variant,p.=,ENST00000445537,NM_030671.2;PTPRO,synonymous_variant,p.=,ENST00000544244,NM_030670.2;PTPRO,synonymous_variant,p.=,ENST00000442921,NM_030669.2;PTPRO,synonymous_variant,p.=,ENST00000542557,NM_030668.2;PTPRO,upstream_gene_variant,,ENST00000535322,;PTPRO,3_prime_UTR_variant,,ENST00000535311,;PTPRO,non_coding_transcript_exon_variant,,ENST00000538907,;							LOW	2835/3651		PTPRO_HUMAN			Transcript			.	ENSP00000281171		CCDS8675.1			1	
TICAM1	0	LGGM	GRCh37	19	4816942	4816942	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	10	3	.	.	ENST00000248244.5:c.1448C>A	p.Pro483Gln	p.P483Q	ENST00000248244	NM_182919.3	483	cCa/cAa	0	1	1	UPI000000D72E	0	NA	ENST00000248244		ENSG00000127666	18348		13	-1.79		HGNC	p.P483Q		TICAM1		SNV			1				ENST00000248244	protein_coding	getma.org/?cm=var&var=hg19,19,4816942,G,T&fts=all		PIRSF_domain:PIRSF037744		P/Q		T	neutral	1678/2676		getma.org/?cm=msa&ty=f&p=TCAM1_HUMAN&rb=401&re=600&var=P483Q	tolerated(1)				YES	TICAM1,missense_variant,p.Pro483Gln,ENST00000248244,NM_182919.3;							MODERATE	1448/2139	P483Q	TCAM1_HUMAN			Transcript		benign(0)	.	ENSP00000248244		CCDS12136.1			1	
HOOK2	0	LGGM	GRCh37	19	12876743	12876743	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	27	3	.	.	ENST00000397668.3:c.1597G>A	p.Asp533Asn	p.D533N	ENST00000397668	NM_013312.2	533	Gat/Aat	0	1	1	UPI00003D0BC0	0	NA	ENST00000397668		ENSG00000095066	19885		30	1.89		HGNC	p.D533N	rs371560494	HOOK2		SNV	T:0.0002						ENST00000264827	protein_coding	getma.org/?cm=var&var=hg19,19,12876743,C,T&fts=all		Pfam_domain:PF05622,hmmpanther:PTHR18947		D/N	T:0	T	low	1671/2513	3.00E-05	getma.org/?cm=msa&ty=f&p=HOOK2_HUMAN&rb=1&re=717&var=D533N	tolerated(0.09)	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN			YES	HOOK2,missense_variant,p.Asp533Asn,ENST00000264827,NM_001100176.1;HOOK2,missense_variant,p.Asp533Asn,ENST00000397668,NM_013312.2;HOOK2,downstream_gene_variant,,ENST00000589400,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,splice_region_variant,p.=,ENST00000586188,;HOOK2,non_coding_transcript_exon_variant,,ENST00000592259,;HOOK2,non_coding_transcript_exon_variant,,ENST00000591839,;HOOK2,non_coding_transcript_exon_variant,,ENST00000589398,;HOOK2,upstream_gene_variant,,ENST00000586710,;HOOK2,upstream_gene_variant,,ENST00000589915,;							MODERATE	1597/2160	D533N	HOOK2_HUMAN			Transcript		benign(0.261)	.	ENSP00000380785	1.65E-05	CCDS42508.1			1	
SLC41A1	0	LGGM	GRCh37	1	205760795	205760795	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	19	3	.	.	ENST00000367137.3:c.1408C>A	p.Arg470=	p.R470=	ENST00000367137	NM_173854.4	470	Cgg/Agg	0	1	1	UPI000013E1E6	0		ENST00000367137		ENSG00000133065	19429		22			HGNC	p.R470R		SLC41A1		SNV							ENST00000367137	protein_coding			hmmpanther:PTHR16228:SF23,hmmpanther:PTHR16228,Gene3D:2zy9B03,Pfam_domain:PF01769,Superfamily_domains:0054748		R		T		2423/4997				B2RMP2_HUMAN			YES	SLC41A1,synonymous_variant,p.=,ENST00000367137,NM_173854.4;SLC41A1,non_coding_transcript_exon_variant,,ENST00000468057,;SLC41A1,non_coding_transcript_exon_variant,,ENST00000484228,;							LOW	1408/1542		S41A1_HUMAN			Transcript			.	ENSP00000356105		CCDS30988.1			1	
HEATR5B	0	LGGM	GRCh37	2	37230796	37230796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	41	3	.	.	ENST00000233099.5:c.4939C>A	p.Arg1647Ser	p.R1647S	ENST00000233099	NM_019024.1	1647	Cgc/Agc	0	1	1	UPI0000160DCD	0	NA	ENST00000233099		ENSG00000008869	29273		44	2.285		HGNC	p.R1647S		HEATR5B		SNV							ENST00000354531	protein_coding	getma.org/?cm=var&var=hg19,2,37230796,G,T&fts=all		hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		R/S		T	medium	5035/6905		getma.org/?cm=msa&ty=f&p=HTR5B_HUMAN&rb=1601&re=1800&var=R1647S	deleterious(0)				YES	HEATR5B,missense_variant,p.Arg1647Ser,ENST00000233099,NM_019024.1;HEATR5B,missense_variant,p.Arg1647Ser,ENST00000354531,;HEATR5B,downstream_gene_variant,,ENST00000471051,;							MODERATE	4939/6216	R1647S	HTR5B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000233099		CCDS33181.1			1	
MED12L	0	LGGM	GRCh37	3	151105633	151105633	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	42	3	.	.	ENST00000474524.1:c.5019G>T	p.Pro1673=	p.P1673=	ENST00000474524	NM_053002.4	1673	ccG/ccT	0	1	1	UPI000020A46B	0		ENST00000474524		ENSG00000144893	16050		45			HGNC	p.P1673P	rs765736163	MED12L		SNV							ENST00000474524	protein_coding			hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5		P		T		5057/10744	4.51E-05						YES	MED12L,synonymous_variant,p.=,ENST00000474524,NM_053002.4;MED12L,synonymous_variant,p.=,ENST00000273432,;P2RY12,upstream_gene_variant,,ENST00000302632,NM_022788.4,NM_176876.2;							LOW	5019/6438		MD12L_HUMAN			Transcript			.	ENSP00000417235	2.47E-05	CCDS33876.1			1	
MUC4	0	LGGM	GRCh37	3	195506889	195506889	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	30	3	.	.	ENST00000463781.3:c.11562C>A	p.Thr3854=	p.T3854=	ENST00000463781	NM_018406.6	3854	acC/acA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		33			HGNC	p.T3854T		MUC4		SNV							ENST00000477086	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T		T		12022/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	11562/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
NT5C1B	0	LGGM	GRCh37	2	18745256	18745256	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	34	3	.	.	ENST00000359846.2:c.1639C>A	p.Arg547Ser	p.R547S	ENST00000359846	NM_001199086.1	547	Cgt/Agt	0	1	1	UPI000035B1B0	0	NA	ENST00000359846		ENSG00000185013	17818		37	3.395		HGNC	p.R487S		NT5C1B		SNV							ENST00000304081	protein_coding	getma.org/?cm=var&var=hg19,2,18745256,G,T&fts=all		Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0		R/S		T	medium	1717/2475		getma.org/?cm=msa&ty=f&p=5NT1B_HUMAN&rb=337&re=604&var=R547S	deleterious(0)	B4DZ86_HUMAN			YES	NT5C1B,missense_variant,p.Arg487Ser,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Arg547Ser,ENST00000359846,NM_001199086.1,NM_001002006.2,NM_001199088.1,NM_001199087.1;NT5C1B-RDH14,missense_variant,p.Arg547Ser,ENST00000532967,NM_001199104.1;NT5C1B,missense_variant,p.Arg547Ser,ENST00000600945,;NT5C1B,missense_variant,p.Arg202Ser,ENST00000418427,;NT5C1B-RDH14,intron_variant,,ENST00000444297,NM_001199103.1;RDH14,upstream_gene_variant,,ENST00000381249,NM_020905.3;RDH14,upstream_gene_variant,,ENST00000468071,;NT5C1B,3_prime_UTR_variant,,ENST00000406971,;							MODERATE	1639/1833	R547S	5NT1B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000352904		CCDS33150.1			1	
TMEM136	0	LGGM	GRCh37	11	120200701	120200701	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	28	3	.	.	ENST00000314475.2:c.281C>A	p.Pro94His	p.P94H	ENST00000314475	NM_001198670.1	94	cCt/cAt	0	1		UPI0000049CF3	0	NA	ENST00000375095		ENSG00000181264	28280		31	2.015		HGNC	p.P72H	COSM923931,COSM1152264	TMEM136		SNV						1,1	ENST00000375095	protein_coding	getma.org/?cm=var&var=hg19,11,120200701,C,A&fts=all		Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR31898,SMART_domains:SM00724,Transmembrane_helices:TMhelix		P/H		A	medium	456/4143		getma.org/?cm=msa&ty=f&p=TM136_HUMAN&rb=33&re=220&var=P72H	deleterious(0.01)	A8K0W5_HUMAN				TMEM136,missense_variant,p.Pro72His,ENST00000375095,NM_001198673.1,NM_001198671.1,NM_001198672.1,NM_001198674.1,NM_001198675.1;TMEM136,missense_variant,p.Pro94His,ENST00000529187,NM_174926.2;TMEM136,missense_variant,p.Pro94His,ENST00000314475,NM_001198670.1;TMEM136,non_coding_transcript_exon_variant,,ENST00000531346,;TMEM136,downstream_gene_variant,,ENST00000524680,;					1,1		MODERATE	215/738	P72H	TM136_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000364236		CCDS55793.1			1	
VPS18	0	LGGM	GRCh37	15	41191573	41191573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	43	3	.	.	ENST00000220509.5:c.557C>A	p.Pro186Gln	p.P186Q	ENST00000220509	NM_020857.2	186	cCg/cAg	0	1	1	UPI0000049FBC	0	NA	ENST00000220509		ENSG00000104142	15972		46	0.6		HGNC	p.P186Q		VPS18		SNV							ENST00000220509	protein_coding	getma.org/?cm=var&var=hg19,15,41191573,C,A&fts=all		hmmpanther:PTHR23323:SF26,hmmpanther:PTHR23323		P/Q		A	neutral	896/3895		getma.org/?cm=msa&ty=f&p=VPS18_HUMAN&rb=1&re=200&var=P186Q	tolerated(0.13)				YES	VPS18,missense_variant,p.Pro186Gln,ENST00000220509,NM_020857.2;VPS18,intron_variant,,ENST00000558474,;VPS18,3_prime_UTR_variant,,ENST00000558855,;							MODERATE	557/2922	P186Q	VPS18_HUMAN			Transcript		possibly_damaging(0.522)	.	ENSP00000220509		CCDS10069.1			1	
WDR52	0	LGGM	GRCh37	3	113138926	113138926	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	3	.	.	ENST00000393845.2:c.508T>C	p.Leu170=	p.L170=	ENST00000393845	NM_001164496.1	170	Ttg/Ctg	0	1		UPI000006D67B	0		ENST00000295868		ENSG00000206530	25631		40			HGNC	p.L170L		WDR52		SNV							ENST00000295868	protein_coding			hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18		L		G		671/3377				C9K0A4_HUMAN				WDR52,synonymous_variant,p.=,ENST00000393845,NM_001164496.1;WDR52,synonymous_variant,p.=,ENST00000295868,NM_018338.3;WDR52-AS1,intron_variant,,ENST00000498480,;WDR52-AS1,intron_variant,,ENST00000473329,;WDR52,intron_variant,,ENST00000488854,;WDR52,intron_variant,,ENST00000489938,;							LOW	508/2949		WDR52_HUMAN			Transcript			.	ENSP00000295868		CCDS2972.1			1	
DAAM2	0	LGGM	GRCh37	6	39846971	39846971	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	23	3	.	.	ENST00000398904.2:c.1563C>A	p.Ser521=	p.S521=	ENST00000398904		521	tcC/tcA	0	1		UPI000020DC88	0		ENST00000274867		ENSG00000146122	18143		26			HGNC	p.S521S		DAAM2		SNV							ENST00000538976	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213		S		A		1719/6194								DAAM2,synonymous_variant,p.=,ENST00000538976,NM_015345.3;DAAM2,synonymous_variant,p.=,ENST00000398904,;DAAM2,synonymous_variant,p.=,ENST00000274867,NM_001201427.1;RP11-61I13.3,downstream_gene_variant,,ENST00000607675,;RP11-61I13.3,downstream_gene_variant,,ENST00000607215,;DAAM2,downstream_gene_variant,,ENST00000491083,;							LOW	1563/3207		DAAM2_HUMAN			Transcript			.	ENSP00000274867		CCDS56426.1			1	
OLIG3	0	LGGM	GRCh37	6	137815151	137815151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	44	3	.	.	ENST00000367734.2:c.157G>T	p.Gly53Trp	p.G53W	ENST00000367734	NM_175747.2	53	Ggg/Tgg	0	1	1	UPI000006F9D6	0	NA	ENST00000367734		ENSG00000177468	18003		47	0.695		HGNC	p.G53W		OLIG3		SNV							ENST00000367734	protein_coding	getma.org/?cm=var&var=hg19,6,137815151,C,A&fts=all		hmmpanther:PTHR19290:SF89,hmmpanther:PTHR19290		G/W		A	neutral	381/2196		getma.org/?cm=msa&ty=f&p=OLIG3_HUMAN&rb=48&re=83&var=G53W	deleterious(0)				YES	OLIG3,missense_variant,p.Gly53Trp,ENST00000367734,NM_175747.2;							MODERATE	157/819	G53W	OLIG3_HUMAN			Transcript		possibly_damaging(0.825)	.	ENSP00000356708		CCDS5186.1			1	
HIST1H2AJ	0	LGGM	GRCh37	6	27782397	27782397	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	24	3	.	.	ENST00000333151.3:c.122C>A	p.Ala41Glu	p.A41E	ENST00000333151	NM_021066.2	41	gCg/gAg	0	1	1	UPI0000000E16	0	getma.org/pdb.php?prot=H2A1J_HUMAN&from=18&to=91&var=A41E	ENST00000333151		ENSG00000182611	4727		27	4.475		HGNC	p.A41E		HIST1H2AJ		SNV							ENST00000333151	protein_coding	getma.org/?cm=var&var=hg19,6,27782397,G,T&fts=all		Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,SMART_domains:SM00414,Superfamily_domains:SSF47113		A/E		T	high	211/496		getma.org/?cm=msa&ty=f&p=H2A1J_HUMAN&rb=18&re=91&var=A41E	deleterious_low_confidence(0)				YES	HIST1H2AJ,missense_variant,p.Ala41Glu,ENST00000333151,NM_021066.2;HIST1H3H,downstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2BM,upstream_gene_variant,,ENST00000359465,NM_003521.2;							MODERATE	122/387	A41E	H2A1J_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000328484		CCDS4628.1			1	
NALCN	0	LGGM	GRCh37	13	101710353	101710353	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	3	.	.	ENST00000251127.6:c.4961G>T	p.Arg1654Leu	p.R1654L	ENST00000251127	NM_052867.2	1654	cGg/cTg	0	1	1	UPI000004EBBD	0	NA	ENST00000251127		ENSG00000102452	19082		38	0		HGNC	p.R1654L		NALCN		SNV			1				ENST00000251127	protein_coding	getma.org/?cm=var&var=hg19,13,101710353,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176		R/L		A	neutral	5043/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=1647&re=1738&var=R1654L	tolerated(0.07)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Arg1654Leu,ENST00000251127,NM_052867.2;NALCN-AS1,non_coding_transcript_exon_variant,,ENST00000457843,;							MODERATE	4961/5217	R1654L	NALCN_HUMAN			Transcript		benign(0.24)	.	ENSP00000251127		CCDS9498.1			1	
AP000349.1	0	LGGM	GRCh37	22	24124654	24124654	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	6	3	.	.	ENST00000598975.1:c.565G>T	p.Gly189Cys	p.G189C	ENST00000598975		189	Ggc/Tgc	0	1	1	UPI00015DF7BB	0		ENST00000598975		ENSG00000267954			9			Clone_based_ensembl_gene	p.G189C		AP000349.1		SNV							ENST00000598975	protein_coding					G/C		A		565/747				Q71RC1_HUMAN,M0QXI1_HUMAN			YES	AP000349.1,missense_variant,p.Gly189Cys,ENST00000598975,;MMP11,synonymous_variant,p.=,ENST00000215743,NM_005940.3;SMARCB1,upstream_gene_variant,,ENST00000344921,;SMARCB1,upstream_gene_variant,,ENST00000263121,NM_003073.3;SMARCB1,upstream_gene_variant,,ENST00000407422,NM_001007468.1;SMARCB1,upstream_gene_variant,,ENST00000407082,;SMARCB1,upstream_gene_variant,,ENST00000417137,;MMP11,non_coding_transcript_exon_variant,,ENST00000488363,;MMP11,non_coding_transcript_exon_variant,,ENST00000480185,;MMP11,downstream_gene_variant,,ENST00000477567,;MMP11,downstream_gene_variant,,ENST00000460352,;MMP11,downstream_gene_variant,,ENST00000489582,;MMP11,3_prime_UTR_variant,,ENST00000437086,;MMP11,3_prime_UTR_variant,,ENST00000434318,;MMP11,non_coding_transcript_exon_variant,,ENST00000465385,;MMP11,downstream_gene_variant,,ENST00000492464,;MMP11,downstream_gene_variant,,ENST00000465730,;MMP11,downstream_gene_variant,,ENST00000493132,;MMP11,downstream_gene_variant,,ENST00000428253,;							MODERATE	565/747					Transcript		unknown(0)	.	ENSP00000469183					1	
ZP1	0	LGGM	GRCh37	11	60637161	60637161	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	34	3	.	.	ENST00000278853.5:c.470C>A	p.Ser157Ter	p.S157*	ENST00000278853	NM_207341.2	157	tCa/tAa	0	1	1	UPI0000351AA0	0	NA	ENST00000278853		ENSG00000149506	13187		37	0		HGNC	p.S157X		ZP1		SNV			1				ENST00000278853	protein_coding	getma.org/?cm=var&var=hg19,11,60637161,C,A&fts=all		hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF41		S/*		A	NA	470/1954		NA					YES	ZP1,stop_gained,p.Ser157Ter,ENST00000278853,NM_207341.2;ZP1,intron_variant,,ENST00000540908,;ZP1,upstream_gene_variant,,ENST00000537203,;ZP1,upstream_gene_variant,,ENST00000543020,;ZP1,upstream_gene_variant,,ENST00000542971,;							HIGH	470/1917	S157*	ZP1_HUMAN			Transcript			.	ENSP00000278853		CCDS31572.1			1	
PPM1K	0	LGGM	GRCh37	4	89199393	89199393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	8	3	.	.	ENST00000608933.1:c.343C>A	p.Gln115Lys	p.Q115K	ENST00000608933	NM_152542.4	115	Cag/Aag	0	1	1	UPI00000473F1	0	getma.org/pdb.php?prot=PPM1K_HUMAN&from=96&to=339&var=Q115K	ENST00000608933		ENSG00000163644	25415		11	0.97		HGNC	p.Q115K		PPM1K		SNV			1				ENST00000506423	protein_coding	getma.org/?cm=var&var=hg19,4,89199393,G,T&fts=all		hmmpanther:PTHR13832,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,SMART_domains:SM00331,Superfamily_domains:SSF81606		Q/K		T	low	733/6484		getma.org/?cm=msa&ty=f&p=PPM1K_HUMAN&rb=96&re=339&var=Q115K	tolerated(0.15)				YES	PPM1K,missense_variant,p.Gln115Lys,ENST00000608933,NM_152542.4;PPM1K,missense_variant,p.Gln115Lys,ENST00000514204,;PPM1K,missense_variant,p.Gln115Lys,ENST00000295908,;PPM1K,missense_variant,p.Gln115Lys,ENST00000315194,;PPM1K,missense_variant,p.Gln115Lys,ENST00000505022,;PPM1K,intron_variant,,ENST00000508256,;PPM1K,intron_variant,,ENST00000510548,;PPM1K,downstream_gene_variant,,ENST00000509340,;RNU6-112P,upstream_gene_variant,,ENST00000363599,;PPM1K,non_coding_transcript_exon_variant,,ENST00000506423,;PPM1K,non_coding_transcript_exon_variant,,ENST00000513546,;PPM1K,upstream_gene_variant,,ENST00000511506,;							MODERATE	343/1119	Q115K				Transcript		benign(0.022)	.	ENSP00000477341		CCDS3629.1			1	
TMEM161A	0	LGGM	GRCh37	19	19232612	19232612	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	28	3	.	.	ENST00000162044.9:c.612C>A	p.Thr204=	p.T204=	ENST00000162044	NM_017814.2	204	acC/acA	0	1	1	UPI00000373EF	0		ENST00000162044		ENSG00000064545	26020		31			HGNC	p.T73T		TMEM161A		SNV							ENST00000587925	protein_coding			Pfam_domain:PF10268,hmmpanther:PTHR13624:SF4,hmmpanther:PTHR13624		T		T		677/1820				K7EQE7_HUMAN,K7EQ34_HUMAN			YES	TMEM161A,synonymous_variant,p.=,ENST00000450333,NM_001256766.1;TMEM161A,synonymous_variant,p.=,ENST00000162044,NM_017814.2;TMEM161A,synonymous_variant,p.=,ENST00000587583,;TMEM161A,synonymous_variant,p.=,ENST00000587096,;TMEM161A,synonymous_variant,p.=,ENST00000587925,;TMEM161A,synonymous_variant,p.=,ENST00000587985,;TMEM161A,3_prime_UTR_variant,,ENST00000590216,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000587406,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000589448,;TMEM161A,non_coding_transcript_exon_variant,,ENST00000591031,;TMEM161A,upstream_gene_variant,,ENST00000591443,;							LOW	612/1440		T161A_HUMAN			Transcript			.	ENSP00000162044		CCDS12393.1			1	
KCNA3	0	LGGM	GRCh37	1	111216792	111216792	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	38	3	.	.	ENST00000369769.2:c.640C>A	p.Arg214Ser	p.R214S	ENST00000369769	NM_002232.3	214	Cgc/Agc	0	1	1	UPI000013FB79	0	getma.org/pdb.php?prot=KCNA3_HUMAN&from=198&to=296&var=R214S	ENST00000369769		ENSG00000177272	6221		41	0.74		HGNC	p.R214S		KCNA3		SNV							ENST00000369769	protein_coding	getma.org/?cm=var&var=hg19,1,111216792,G,T&fts=all		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF28,Low_complexity_(Seg):seg		R/S		T	neutral	864/3346		getma.org/?cm=msa&ty=f&p=KCNA3_HUMAN&rb=198&re=296&var=R214S	tolerated(0.11)	Q6P2D3_HUMAN,B2RA23_HUMAN			YES	KCNA3,missense_variant,p.Arg214Ser,ENST00000369769,NM_002232.3;							MODERATE	640/1728	R214S	KCNA3_HUMAN			Transcript		benign(0.004)	.	ENSP00000358784		CCDS828.2			1	
SH3PXD2A	0	LGGM	GRCh37	10	105363001	105363001	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	41	3	.	.	ENST00000355946.2:c.1890C>A	p.Pro630=	p.P630=	ENST00000355946	NM_014631.2	630	ccC/ccA	0	1		UPI000046FCE8	0		ENST00000369774		ENSG00000107957	23664		44			HGNC	p.P658P		SH3PXD2A		SNV							ENST00000369774	protein_coding			hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7,Low_complexity_(Seg):seg		P		T		2251/11468				F5GZ35_HUMAN				SH3PXD2A,synonymous_variant,p.=,ENST00000369774,;SH3PXD2A,synonymous_variant,p.=,ENST00000355946,NM_014631.2;SH3PXD2A,synonymous_variant,p.=,ENST00000420222,;SH3PXD2A,synonymous_variant,p.=,ENST00000540321,;SH3PXD2A,synonymous_variant,p.=,ENST00000538130,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;							LOW	1974/3402		SPD2A_HUMAN			Transcript			.	ENSP00000358789					1	
SHMT2	0	LGGM	GRCh37	12	57627831	57627831	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	45	3	.	.	ENST00000328923.3:c.1325G>T	p.Arg442Leu	p.R442L	ENST00000328923	NM_005412.5	442	cGg/cTg	0	1	1	UPI000000DA76	0	getma.org/pdb.php?prot=GLYM_HUMAN&from=49&to=448&var=R442L	ENST00000328923		ENSG00000182199	10852		48	1.435		HGNC	p.R421L		SHMT2		SNV							ENST00000553474	protein_coding	getma.org/?cm=var&var=hg19,12,57627831,G,T&fts=all		HAMAP:MF_00051,hmmpanther:PTHR11680:SF1,hmmpanther:PTHR11680,Pfam_domain:PF00464,Gene3D:3.90.1150.10,PIRSF_domain:PIRSF000412,Superfamily_domains:SSF53383		R/L		T	low	1777/2537		getma.org/?cm=msa&ty=f&p=GLYM_HUMAN&rb=49&re=448&var=R442L	tolerated(0.19)	G3V5L0_HUMAN,G3V4X0_HUMAN,G3V4T0_HUMAN,G3V3Y8_HUMAN,G3V2Y4_HUMAN,G3V2W0_HUMAN,G3V241_HUMAN			YES	SHMT2,missense_variant,p.Arg442Leu,ENST00000328923,NM_005412.5,NM_001166356.1;SHMT2,missense_variant,p.Arg421Leu,ENST00000449049,NM_001166357.1;SHMT2,missense_variant,p.Arg421Leu,ENST00000414700,NM_001166358.1;SHMT2,missense_variant,p.Arg432Leu,ENST00000557487,;SHMT2,missense_variant,p.Arg346Leu,ENST00000393827,;SHMT2,missense_variant,p.Arg421Leu,ENST00000553474,NM_001166359.1;SHMT2,missense_variant,p.Arg242Leu,ENST00000557529,;NDUFA4L2,downstream_gene_variant,,ENST00000393825,NM_020142.3;NDUFA4L2,downstream_gene_variant,,ENST00000554503,;SHMT2,downstream_gene_variant,,ENST00000555634,;NDUFA4L2,downstream_gene_variant,,ENST00000556732,;SHMT2,downstream_gene_variant,,ENST00000554975,;SHMT2,downstream_gene_variant,,ENST00000556689,;SHMT2,downstream_gene_variant,,ENST00000555773,;SHMT2,downstream_gene_variant,,ENST00000554310,;SHMT2,downstream_gene_variant,,ENST00000556737,;SHMT2,downstream_gene_variant,,ENST00000557427,;SHMT2,downstream_gene_variant,,ENST00000553529,;SHMT2,downstream_gene_variant,,ENST00000557703,;SHMT2,downstream_gene_variant,,ENST00000554600,;SHMT2,downstream_gene_variant,,ENST00000554656,;SHMT2,downstream_gene_variant,,ENST00000557740,;SHMT2,downstream_gene_variant,,ENST00000553949,;NDUFA4L2,downstream_gene_variant,,ENST00000556234,;SHMT2,3_prime_UTR_variant,,ENST00000555774,;SHMT2,3_prime_UTR_variant,,ENST00000556825,;SHMT2,3_prime_UTR_variant,,ENST00000553837,;SHMT2,3_prime_UTR_variant,,ENST00000557433,;SHMT2,3_prime_UTR_variant,,ENST00000555116,;SHMT2,3_prime_UTR_variant,,ENST00000557348,;SHMT2,non_coding_transcript_exon_variant,,ENST00000554467,;SHMT2,non_coding_transcript_exon_variant,,ENST00000556798,;NDUFA4L2,downstream_gene_variant,,ENST00000555173,;SHMT2,downstream_gene_variant,,ENST00000553868,;SHMT2,downstream_gene_variant,,ENST00000555563,;SHMT2,downstream_gene_variant,,ENST00000554604,;SHMT2,downstream_gene_variant,,ENST00000555213,;SHMT2,downstream_gene_variant,,ENST00000553950,;SHMT2,downstream_gene_variant,,ENST00000557269,;SHMT2,downstream_gene_variant,,ENST00000553324,;NDUFA4L2,downstream_gene_variant,,ENST00000554688,;SHMT2,downstream_gene_variant,,ENST00000557302,;							MODERATE	1325/1515	R442L	GLYM_HUMAN			Transcript		benign(0.171)	.	ENSP00000333667		CCDS8934.1			1	
DYTN	0	LGGM	GRCh37	2	207564890	207564890	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	3	.	.	ENST00000452335.2:c.534C>A	p.Ala178=	p.A178=	ENST00000452335	NM_001093730.1	178	gcC/gcA	0	1	1	UPI0000EE0AB9	0		ENST00000452335		ENSG00000232125	23279		40			HGNC	p.A178A		DYTN		SNV							ENST00000452335	protein_coding			Superfamily_domains:SSF47473,Pfam_domain:PF09069,Gene3D:1.10.238.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF237		A		T		651/2051							YES	DYTN,synonymous_variant,p.=,ENST00000452335,NM_001093730.1;Y_RNA,downstream_gene_variant,,ENST00000384589,;DYTN,non_coding_transcript_exon_variant,,ENST00000477734,;							LOW	534/1737		DYTN_HUMAN			Transcript			.	ENSP00000396593		CCDS46502.1			1	
KIAA1033	0	LGGM	GRCh37	12	105536951	105536951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	26	3	.	.	ENST00000332180.5:c.1940C>A	p.Ala647Glu	p.A647E	ENST00000332180	NM_015275.1	647	gCa/gAa	0	1	1	UPI00001C1F3B	0	NA	ENST00000332180		ENSG00000136051	29174		29	2.25		HGNC	p.A647E		KIAA1033		SNV			1				ENST00000332180	protein_coding	getma.org/?cm=var&var=hg19,12,105536951,C,A&fts=all		hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14744		A/E		A	medium	2027/5812		getma.org/?cm=msa&ty=f&p=WASH7_HUMAN&rb=601&re=800&var=A647E	deleterious(0.01)	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN			YES	KIAA1033,missense_variant,p.Ala647Glu,ENST00000332180,NM_015275.1;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,upstream_gene_variant,,ENST00000548534,;KIAA1033,upstream_gene_variant,,ENST00000550613,;							MODERATE	1940/3522	A647E	WASH7_HUMAN			Transcript		benign(0.134)	.	ENSP00000328062		CCDS41826.1			1	
VANGL2	0	LGGM	GRCh37	1	160393987	160393987	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	28	3	.	.	ENST00000368061.2:c.1219C>A	p.Arg407=	p.R407=	ENST00000368061	NM_020335.2	407	Cgg/Agg	0	1	1	UPI00001C1D79	0		ENST00000368061		ENSG00000162738	15511		31			HGNC	p.R407R		VANGL2		SNV			1				ENST00000368061	protein_coding			Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10		R		A		1693/5340							YES	VANGL2,synonymous_variant,p.=,ENST00000368061,NM_020335.2;VANGL2,downstream_gene_variant,,ENST00000483408,;							LOW	1219/1566		VANG2_HUMAN			Transcript			.	ENSP00000357040		CCDS30915.1			1	
DNAH2	0	LGGM	GRCh37	17	7699860	7699860	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	31	3	.	.	ENST00000572933.1:c.7753G>T	p.Gly2585Trp	p.G2585W	ENST00000572933		2585	Ggg/Tgg	0	1		UPI00005B2F0D	0	getma.org/pdb.php?prot=DYH2_HUMAN&from=2377&to=2647&var=G2585W	ENST00000389173		ENSG00000183914	2948		34	2.005		HGNC	p.G2585W		DNAH2		SNV							ENST00000389173	protein_coding	getma.org/?cm=var&var=hg19,17,7699860,G,T&fts=all		Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,Superfamily_domains:SSF52540		G/W		T	medium	7767/13505		getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=2377&re=2647&var=G2585W						DNAH2,missense_variant,p.Gly2585Trp,ENST00000572933,;DNAH2,missense_variant,p.Gly2585Trp,ENST00000389173,NM_020877.2;							MODERATE	7753/13284	G2585W	DYH2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000373825		CCDS32551.1			1	
ATHL1	0	LGGM	GRCh37	11	294407	294407	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	43	3	.	.	ENST00000409548.2:c.1949G>C	p.Arg650Pro	p.R650P	ENST00000409548	NM_025092.4	650	cGa/cCa	0	1	1	UPI0000EE80CE	0	NA	ENST00000409548		ENSG00000142102	26210		46	0.895		HGNC	p.R677P		ATHL1		SNV							ENST00000409479	protein_coding	getma.org/?cm=var&var=hg19,11,294407,G,C&fts=all		hmmpanther:PTHR11051,hmmpanther:PTHR11051:SF10		R/P		C	low	2064/3687		getma.org/?cm=msa&ty=f&p=ATHL1_HUMAN&rb=610&re=737&var=R650P	tolerated(0.13)				YES	ATHL1,missense_variant,p.Arg650Pro,ENST00000409548,NM_025092.4;ATHL1,missense_variant,p.Arg677Pro,ENST00000409479,;ATHL1,missense_variant,p.Arg402Pro,ENST00000409655,;ATHL1,missense_variant,p.Arg111Pro,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,;							MODERATE	1949/2214	R650P	ATHL1_HUMAN			Transcript		benign(0.004)	.	ENSP00000387185		CCDS31322.2			1	
ERBB2	0	LGGM	GRCh37	17	37866364	37866364	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	27	3	.	.	ENST00000269571.5:c.669C>A	p.Gly223=	p.G223=	ENST00000269571		223	ggC/ggA	0	1	1	UPI000003F55F	0		ENST00000269571		ENSG00000141736	3430		30			HGNC	p.G193G		ERBB2		SNV			1				ENST00000406381	protein_coding			hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF137,Pfam_domain:PF00757,Gene3D:2.10.220.10,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184		G		A		828/4545				Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN			YES	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,intron_variant,,ENST00000445658,;ERBB2,downstream_gene_variant,,ENST00000584099,;ERBB2,downstream_gene_variant,,ENST00000578709,;ERBB2,upstream_gene_variant,,ENST00000578502,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;ERBB2,non_coding_transcript_exon_variant,,ENST00000584908,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583391,;ERBB2,intron_variant,,ENST00000582788,;ERBB2,intron_variant,,ENST00000582648,;							LOW	669/3768		ERBB2_HUMAN			Transcript			.	ENSP00000269571		CCDS32642.1			1	
CD200R1L	0	LGGM	GRCh37	3	112548208	112548208	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	33	3	.	.	ENST00000398214.1:c.70G>T	p.Gly24Ter	p.G24*	ENST00000398214	NM_001008784.2	24	Gga/Tga	0	1	1	UPI000042263C	0	NA	ENST00000398214		ENSG00000206531	24665		36	0		HGNC	p.G3X		CD200R1L		SNV							ENST00000448932	protein_coding	getma.org/?cm=var&var=hg19,3,112548208,C,A&fts=all		hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF3		G/*		A	NA	296/1296		NA					YES	CD200R1L,stop_gained,p.Gly3Ter,ENST00000488794,;CD200R1L,stop_gained,p.Gly3Ter,ENST00000448932,NM_001199215.1;CD200R1L,stop_gained,p.Gly24Ter,ENST00000398214,NM_001008784.2;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;							HIGH	70/816	G24*	MO2R2_HUMAN			Transcript			.	ENSP00000381272		CCDS43131.1			1	
SLC5A7	0	LGGM	GRCh37	2	108627034	108627034	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	3	.	.	ENST00000264047.2:c.1460C>A	p.Ser487Ter	p.S487*	ENST00000264047	NM_021815.2	487	tCa/tAa	0	1	1	UPI0000070792	0	NA	ENST00000264047		ENSG00000115665	14025		40	0		HGNC	p.S487X		SLC5A7		SNV			1				ENST00000409059	protein_coding	getma.org/?cm=var&var=hg19,2,108627034,C,A&fts=all		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF129		S/*		A	NA	1736/5152		NA		Q2T9H3_HUMAN,F5H382_HUMAN			YES	SLC5A7,stop_gained,p.Ser487Ter,ENST00000264047,NM_021815.2;SLC5A7,stop_gained,p.Ser487Ter,ENST00000409059,;SLC5A7,stop_gained,p.Ser382Ter,ENST00000540517,;							HIGH	1460/1743	S487*	SC5A7_HUMAN			Transcript			.	ENSP00000264047		CCDS2074.1			1	
ABT1	0	LGGM	GRCh37	6	26598645	26598645	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	22	3	.	.	ENST00000274849.1:c.591G>T	p.Ala197=	p.A197=	ENST00000274849	NM_013375.3	197	gcG/gcT	0	1	1	UPI0000062314	0		ENST00000274849		ENSG00000146109	17369		25			HGNC	p.A197A		ABT1		SNV							ENST00000274849	protein_coding			hmmpanther:PTHR12311		A		T		622/2255							YES	ABT1,synonymous_variant,p.=,ENST00000274849,NM_013375.3;							LOW	591/819		ABT1_HUMAN			Transcript			.	ENSP00000274849		CCDS4616.1			1	
CPS1	0	LGGM	GRCh37	2	211447430	211447430	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	3	.	.	ENST00000430249.2:c.636C>A	p.Thr212=	p.T212=	ENST00000430249	NM_001122633.2	212	acC/acA	0	1		UPI000000D7EC	0		ENST00000233072		ENSG00000021826	2323		38			HGNC	p.T206T		CPS1		SNV			1				ENST00000233072	protein_coding			Gene3D:3.40.50.880,HAMAP:MF_01209,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF52317,TIGRFAM_domain:TIGR01368		T		A		814/5821				Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN				CPS1,synonymous_variant,p.=,ENST00000233072,NM_001875.4;CPS1,synonymous_variant,p.=,ENST00000430249,NM_001122633.2;CPS1,downstream_gene_variant,,ENST00000497163,;							LOW	618/4503		CPSM_HUMAN			Transcript			.	ENSP00000233072		CCDS2393.1			1	
EVA1A	0	LGGM	GRCh37	2	75720556	75720556	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	34	3	.	.	ENST00000233712.1:c.265G>T	p.Glu89Ter	p.E89*	ENST00000233712	NM_032181.2	89	Gag/Tag	0	1	1	UPI0000071E24	0	NA	ENST00000233712		ENSG00000115363	25816		37	0		HGNC	p.E89X		EVA1A		SNV							ENST00000452003	protein_coding	getma.org/?cm=var&var=hg19,2,75720556,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12011,Pfam_domain:PF14851		E/*		A	NA	703/1815		NA		C9JX09_HUMAN,C9J5M4_HUMAN			YES	EVA1A,stop_gained,p.Glu89Ter,ENST00000233712,NM_032181.2;EVA1A,stop_gained,p.Glu89Ter,ENST00000393913,NM_001135032.1;EVA1A,stop_gained,p.Glu89Ter,ENST00000410113,;EVA1A,stop_gained,p.Glu89Ter,ENST00000410071,;EVA1A,stop_gained,p.Glu77Ter,ENST00000410010,;EVA1A,stop_gained,p.Glu89Ter,ENST00000432649,;EVA1A,stop_gained,p.Glu89Ter,ENST00000452003,;snoU109,downstream_gene_variant,,ENST00000459339,;EVA1A,intron_variant,,ENST00000490746,;EVA1A,intron_variant,,ENST00000485891,;							HIGH	265/459	E89*	EVA1A_HUMAN			Transcript			.	ENSP00000233712		CCDS1959.1			1	
CPAMD8	0	LGGM	GRCh37	19	17081815	17081815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	43	3	.	.	ENST00000443236.1:c.2240G>T	p.Arg747Leu	p.R747L	ENST00000443236	NM_015692.2	747	cGa/cTa	0	1	1	UPI0000E8AC99	0	NA	ENST00000443236		ENSG00000160111	23228		46	-1.39		HGNC	p.R747L		CPAMD8		SNV							ENST00000443236	protein_coding	getma.org/?cm=var&var=hg19,19,17081815,C,A&fts=all		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76		R/L		A	neutral	2272/5992		getma.org/?cm=msa&ty=f&p=CPMD8_HUMAN&rb=627&re=749&var=R700L	tolerated(1)				YES	CPAMD8,missense_variant,p.Arg747Leu,ENST00000443236,NM_015692.2;CPAMD8,synonymous_variant,p.=,ENST00000388925,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,synonymous_variant,p.=,ENST00000291440,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000602159,;							MODERATE	2240/5799	R700L	CPMD8_HUMAN			Transcript		benign(0.004)	.	ENSP00000402505		CCDS42519.1			1	
UNC5A	0	LGGM	GRCh37	5	176305596	176305596	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	10	3	.	.	ENST00000329542.4:c.2140G>T	p.Glu714Ter	p.E714*	ENST00000329542	NM_133369.2	714	Gag/Tag	0	1	1	UPI0000047F37	0	NA	ENST00000329542		ENSG00000113763	12567		13	0		HGNC	p.E714X		UNC5A		SNV							ENST00000329542	protein_coding	getma.org/?cm=var&var=hg19,5,176305596,G,T&fts=all		hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582		E/*		T	NA	2414/3812		NA					YES	UNC5A,stop_gained,p.Glu714Ter,ENST00000329542,NM_133369.2;UNC5A,stop_gained,p.Glu674Ter,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,;							HIGH	2140/2529	E714*	UNC5A_HUMAN			Transcript			.	ENSP00000332737		CCDS34299.1			1	
CMTR1	0	LGGM	GRCh37	6	37430704	37430704	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	3	.	.	ENST00000373451.4:c.1425C>A	p.Ser475=	p.S475=	ENST00000373451	NM_015050.2	475	tcC/tcA	0	1	1	UPI00000700C2	0		ENST00000373451		ENSG00000137200	21077		40			HGNC	p.S475S		CMTR1		SNV							ENST00000373451	protein_coding			hmmpanther:PTHR16121:SF0,hmmpanther:PTHR16121		S		A		1589/4033							YES	CMTR1,synonymous_variant,p.=,ENST00000373451,NM_015050.2;CMTR1,downstream_gene_variant,,ENST00000455891,;CMTR1,downstream_gene_variant,,ENST00000493656,;							LOW	1425/2508		CMTR1_HUMAN			Transcript			.	ENSP00000362550		CCDS4835.1			1	
CTAGE9	0	LGGM	GRCh37	6	132031719	132031719	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	3	.	.	ENST00000314099.8:c.439C>A	p.Leu147Ile	p.L147I	ENST00000314099	NM_001145659.1	147	Ctc/Atc	0	1	1	UPI0000073347	0	NA	ENST00000314099		ENSG00000236761	37275		40	2.925		HGNC	p.L147I		CTAGE9		SNV							ENST00000314099	protein_coding	getma.org/?cm=var&var=hg19,6,132031719,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39		L/I		T	medium	488/2626		getma.org/?cm=msa&ty=f&p=CTGE9_HUMAN&rb=1&re=775&var=L147I	tolerated(0.4)				YES	CTAGE9,missense_variant,p.Leu147Ile,ENST00000314099,NM_001145659.1;ENPP3,intron_variant,,ENST00000414305,;ENPP3,intron_variant,,ENST00000357639,NM_005021.3;ENPP3,intron_variant,,ENST00000358229,;							MODERATE	439/2334	L147I	CTGE9_HUMAN			Transcript		benign(0.36)	.	ENSP00000395587		CCDS47475.1			1	
PAX6	0	LGGM	GRCh37	11	31822341	31822341	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	30	3	.	.	ENST00000419022.1:c.463G>T	p.Gly155Cys	p.G155C	ENST00000419022	NM_001258462.1	155	Ggc/Tgc	0	1		UPI0000000CC0	0	NA	ENST00000241001		ENSG00000007372	8620		33	1.59		HGNC	p.G155C		PAX6		SNV			1				ENST00000379115	protein_coding	getma.org/?cm=var&var=hg19,11,31822341,C,A&fts=all		hmmpanther:PTHR24329:SF294,hmmpanther:PTHR24329		G/C		A	low	762/1631		getma.org/?cm=msa&ty=f&p=PAX6_HUMAN&rb=129&re=210&var=G141C	deleterious(0)	Q6VMP0_HUMAN,Q66SS1_HUMAN,E9PKM0_HUMAN,E5LBD7_HUMAN,D3DQZ8_HUMAN,B1B1I8_HUMAN				PAX6,missense_variant,p.Gly155Cys,ENST00000419022,NM_001258462.1,NM_001127612.1,NM_001258463.1;PAX6,missense_variant,p.Gly155Cys,ENST00000379129,;PAX6,missense_variant,p.Gly155Cys,ENST00000379107,;PAX6,missense_variant,p.Gly141Cys,ENST00000379132,;PAX6,missense_variant,p.Gly141Cys,ENST00000379123,NM_000280.4,NM_001258464.1;PAX6,missense_variant,p.Gly141Cys,ENST00000379109,;PAX6,missense_variant,p.Gly155Cys,ENST00000379115,NM_001604.5;PAX6,missense_variant,p.Gly141Cys,ENST00000241001,;PAX6,missense_variant,p.Gly141Cys,ENST00000379111,NM_001258465.1;PAX6,missense_variant,p.Gly88Cys,ENST00000455099,;PAX6,downstream_gene_variant,,ENST00000524853,;PAX6,downstream_gene_variant,,ENST00000423822,;PAX6,downstream_gene_variant,,ENST00000438681,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000531910,;PAX6,non_coding_transcript_exon_variant,,ENST00000481563,;PAX6,downstream_gene_variant,,ENST00000533156,;PAX6,upstream_gene_variant,,ENST00000530373,;PAX6,downstream_gene_variant,,ENST00000530714,;PAX6,downstream_gene_variant,,ENST00000534353,;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,;							MODERATE	421/1269	G141C	PAX6_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000241001		CCDS31451.1			1	
SLC7A14	0	LGGM	GRCh37	3	170219133	170219133	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	8	3	.	.	ENST00000231706.5:c.306C>A	p.Gly102=	p.G102=	ENST00000231706	NM_020949.2	102	ggC/ggA	0	1	1	UPI0000051F6B	0		ENST00000231706		ENSG00000013293	29326		11			HGNC	p.G102G		SLC7A14		SNV			1				ENST00000231706	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF13520,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF250		G		T		622/10103							YES	SLC7A14,splice_region_variant,p.=,ENST00000231706,NM_020949.2;CLDN11,intron_variant,,ENST00000486975,;CLDN11,intron_variant,,ENST00000451576,;CLDN11,intron_variant,,ENST00000480067,;CLDN11,intron_variant,,ENST00000471373,;KRT8P13,downstream_gene_variant,,ENST00000463294,;							LOW	306/2316		S7A14_HUMAN			Transcript			.	ENSP00000231706		CCDS33892.1			1	
LAYN	0	LGGM	GRCh37	11	111430980	111430980	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	3	.	.	ENST00000375615.3:c.946C>A	p.Arg316=	p.R316=	ENST00000375615	NM_001258390.1	316	Cga/Aga	0	1	1	UPI0000048EB1	0		ENST00000375615		ENSG00000204381	29471		38			HGNC	p.R316R		LAYN		SNV							ENST00000375615	protein_coding			hmmpanther:PTHR14789,hmmpanther:PTHR14789:SF2		R		A		1131/1836				E9PQY8_HUMAN,E9PK64_HUMAN,B4DDS5_HUMAN			YES	LAYN,synonymous_variant,p.=,ENST00000436913,NM_001258391.1;LAYN,synonymous_variant,p.=,ENST00000375614,NM_178834.4;LAYN,synonymous_variant,p.=,ENST00000375615,NM_001258390.1;LAYN,3_prime_UTR_variant,,ENST00000525126,;LAYN,3_prime_UTR_variant,,ENST00000533265,;LAYN,downstream_gene_variant,,ENST00000530962,;LAYN,downstream_gene_variant,,ENST00000528924,;LAYN,3_prime_UTR_variant,,ENST00000525866,;							LOW	946/1149		LAYN_HUMAN			Transcript			.	ENSP00000364765		CCDS58178.1			1	
C4orf22	0	LGGM	GRCh37	4	81884725	81884725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	3	.	.	ENST00000508675.1:c.712C>A	p.Gln238Lys	p.Q238K	ENST00000508675	NM_001206997.1	238	Caa/Aaa	0	1		UPI00001AF0C8	0	NA	ENST00000358105		ENSG00000197826	28554		38	2.235		HGNC	p.Q238K		C4orf22		SNV							ENST00000508675	protein_coding	getma.org/?cm=var&var=hg19,4,81884725,C,A&fts=all		Pfam_domain:PF14713		Q/K		A	medium	710/895		getma.org/?cm=msa&ty=f&p=CD022_HUMAN&rb=13&re=231&var=Q221K	deleterious(0.01)					C4orf22,missense_variant,p.Gln221Lys,ENST00000358105,NM_152770.2;C4orf22,missense_variant,p.Gln238Lys,ENST00000508675,NM_001206997.1;C4orf22,non_coding_transcript_exon_variant,,ENST00000508314,;							MODERATE	661/702	Q221K	CD022_HUMAN			Transcript		possibly_damaging(0.475)	.	ENSP00000350818		CCDS3587.1			1	
SLC52A3	0	LGGM	GRCh37	20	746314	746314	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	10	3	.	.	ENST00000217254.7:c.105C>A	p.Pro35=	p.P35=	ENST00000217254	NM_033409.3	35	ccC/ccA	0	1	1	UPI000002A74E	0		ENST00000217254		ENSG00000101276	16187		13			HGNC	p.P35P		SLC52A3		SNV			1				ENST00000381944	protein_coding			hmmpanther:PTHR12929,hmmpanther:PTHR12929:SF4,Low_complexity_(Seg):seg		P		T		347/2598				K0A6P4_HUMAN			YES	SLC52A3,synonymous_variant,p.=,ENST00000381944,;SLC52A3,synonymous_variant,p.=,ENST00000217254,NM_033409.3;SLC52A3,non_coding_transcript_exon_variant,,ENST00000473664,;SLC52A3,downstream_gene_variant,,ENST00000488495,;							LOW	105/1410		S52A3_HUMAN			Transcript			.	ENSP00000217254		CCDS13007.1			1	
FANCM	0	LGGM	GRCh37	14	45606442	45606442	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	30	3	.	.	ENST00000267430.5:c.679C>A	p.Gln227Lys	p.Q227K	ENST00000267430	NM_020937.2	227	Cag/Aag	0	1	1	UPI000059F032	0	getma.org/pdb.php?prot=FANCM_HUMAN&from=92&to=255&var=Q227K	ENST00000267430		ENSG00000187790	23168		33	1.47		HGNC	p.Q227K		FANCM		SNV			1				ENST00000267430	protein_coding	getma.org/?cm=var&var=hg19,14,45606442,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00270,PROSITE_profiles:PS51192,hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20,SMART_domains:SM00487,Superfamily_domains:SSF52540		Q/K		A	low	764/7111		getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=92&re=255&var=Q227K	deleterious(0.01)				YES	FANCM,missense_variant,p.Gln227Lys,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Gln227Lys,ENST00000542564,;FANCM,missense_variant,p.Gln227Lys,ENST00000556036,;FKBP3,upstream_gene_variant,,ENST00000216330,;FKBP3,upstream_gene_variant,,ENST00000396062,NM_002013.3;FANCM,non_coding_transcript_exon_variant,,ENST00000554030,;FKBP3,upstream_gene_variant,,ENST00000557324,;							MODERATE	679/6147	Q227K	FANCM_HUMAN			Transcript		possibly_damaging(0.557)	.	ENSP00000267430		CCDS32070.1			1	
NOL4	0	LGGM	GRCh37	18	31803007	31803007	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	11	3	.	.	ENST00000261592.5:c.211C>A	p.Arg71Ser	p.R71S	ENST00000261592	NM_001198546.1	71	Cgc/Agc	0	1	1	UPI000059D504	0	NA	ENST00000261592		ENSG00000101746	7870		14	-0.205		HGNC	p.R55S		NOL4		SNV							ENST00000590712	protein_coding	getma.org/?cm=var&var=hg19,18,31803007,G,T&fts=all		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8		R/S		T	neutral	509/3957		getma.org/?cm=msa&ty=f&p=NOL4_HUMAN&rb=1&re=636&var=R71S	tolerated(0.78)				YES	NOL4,missense_variant,p.Arg71Ser,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,missense_variant,p.Arg71Ser,ENST00000589544,;NOL4,missense_variant,p.Arg55Ser,ENST00000590712,;NOL4,5_prime_UTR_variant,,ENST00000269185,NM_001198548.1;NOL4,upstream_gene_variant,,ENST00000535475,;NOL4,upstream_gene_variant,,ENST00000538587,NM_001198547.1;RP11-379L18.1,non_coding_transcript_exon_variant,,ENST00000587528,;NOL4,downstream_gene_variant,,ENST00000590846,;NOL4,upstream_gene_variant,,ENST00000587971,;NOL4,downstream_gene_variant,,ENST00000588355,;NOL4,upstream_gene_variant,,ENST00000586314,;NOL4,upstream_gene_variant,,ENST00000586309,;NOL4,upstream_gene_variant,,ENST00000591917,;							MODERATE	211/1917	R71S	NOL4_HUMAN			Transcript		benign(0.004)	.	ENSP00000261592		CCDS11907.2			1	
MDM1	0	LGGM	GRCh37	12	68721275	68721275	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	46	3	.	.	ENST00000303145.7:c.134-474G>T		*45*	ENST00000303145	NM_017440.4			0	1	1	UPI00001FC70C	0		ENST00000303145		ENSG00000111554	29917		49			HGNC	p.C50F		MDM1		SNV							ENST00000393543	protein_coding							A		-/2918				F5H804_HUMAN			YES	MDM1,missense_variant,p.Cys50Phe,ENST00000393543,;MDM1,intron_variant,,ENST00000303145,NM_017440.4;MDM1,intron_variant,,ENST00000540418,;MDM1,intron_variant,,ENST00000411698,NM_001205028.1;MDM1,intron_variant,,ENST00000430606,NM_001205029.1,NM_020128.2;MDM1,intron_variant,,ENST00000541686,;MDM1,intron_variant,,ENST00000545724,;MDM1,upstream_gene_variant,,ENST00000540476,;MDM1,upstream_gene_variant,,ENST00000538454,;MDM1,upstream_gene_variant,,ENST00000536997,;MDM1,downstream_gene_variant,,ENST00000541087,;							MODIFIER	-/2145		MDM1_HUMAN			Transcript			.	ENSP00000302537		CCDS8983.1			1	
BCL9	0	LGGM	GRCh37	1	147096317	147096317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	23	3	.	.	ENST00000234739.3:c.3838C>A	p.Gln1280Lys	p.Q1280K	ENST00000234739	NM_004326.3	1280	Caa/Aaa	0	1	1	UPI000013C9B9	0	NA	ENST00000234739		ENSG00000116128	1008		26	1.385		HGNC	p.Q1280K		BCL9		SNV							ENST00000234739	protein_coding	getma.org/?cm=var&var=hg19,1,147096317,C,A&fts=all		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5		Q/K		A	low	4578/6278		getma.org/?cm=msa&ty=f&p=BCL9_HUMAN&rb=1190&re=1389&var=Q1280K	tolerated(0.08)				YES	BCL9,missense_variant,p.Gln1280Lys,ENST00000234739,NM_004326.3;							MODERATE	3838/4281	Q1280K	BCL9_HUMAN			Transcript		benign(0.104)	.	ENSP00000234739		CCDS30833.1			1	
FMNL3	0	LGGM	GRCh37	12	50052242	50052242	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	11	4	.	.	ENST00000335154.5:c.588G>A	p.Ala196=	p.A196=	ENST00000335154	NM_175736.4	196	gcG/gcA	0	1	1	UPI00001FC1CB	0		ENST00000335154		ENSG00000161791	23698		15			HGNC	p.A196A	rs749638078	FMNL3		SNV							ENST00000550488	protein_coding			PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF29		A		T		822/11192	1.54E-05						YES	FMNL3,synonymous_variant,p.=,ENST00000335154,NM_175736.4;FMNL3,synonymous_variant,p.=,ENST00000550488,;FMNL3,synonymous_variant,p.=,ENST00000293590,;FMNL3,intron_variant,,ENST00000352151,NM_198900.2;FMNL3,downstream_gene_variant,,ENST00000550970,;							LOW	588/3084		FMNL3_HUMAN			Transcript			.	ENSP00000335655	8.25E-06	CCDS44874.1			1	
NTF4	0	LGGM	GRCh37	19	49564781	49564781	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	26	4	.	.	ENST00000301411.3:c.474C>T	p.Cys158=	p.C158=	ENST00000301411	NM_006179.4	158	tgC/tgT	0	1		UPI000004FD88	0		ENST00000593537		ENSG00000225950	8024		30			HGNC	p.C158C	COSM1286708	NTF4		SNV			1			1	ENST00000301411	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50270,hmmpanther:PTHR11589,PROSITE_patterns:PS00248,Gene3D:2.10.90.10,Pfam_domain:PF00243,PIRSF_domain:PIRSF001789,SMART_domains:SM00140,Superfamily_domains:SSF57501,Prints_domain:PR00268		C		A		474/932				M0R0X2_HUMAN				NTF4,synonymous_variant,p.=,ENST00000301411,NM_006179.4;NTF4,synonymous_variant,p.=,ENST00000593537,;NTF4,intron_variant,,ENST00000451356,;CGB7,upstream_gene_variant,,ENST00000356213,;CGB7,upstream_gene_variant,,ENST00000597853,;CGB7,upstream_gene_variant,,ENST00000596965,;NTF4,downstream_gene_variant,,ENST00000595857,;CTB-60B18.18,upstream_gene_variant,,ENST00000599209,;CTB-60B18.12,downstream_gene_variant,,ENST00000597865,;CGB7,upstream_gene_variant,,ENST00000593309,;CGB7,upstream_gene_variant,,ENST00000598442,;NTF4,downstream_gene_variant,,ENST00000594938,;NTF4,intron_variant,,ENST00000599795,;					1		LOW	474/633		NTF4_HUMAN			Transcript			.	ENSP00000469455		CCDS12754.1			1	
AQPEP	0	LGGM	GRCh37	5	115298868	115298868	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	10	4	.	.	ENST00000357872.4:c.554C>T	p.Thr185Met	p.T185M	ENST00000357872	NM_173800.4	185	aCg/aTg	0	1	1	UPI0000457329	0	getma.org/pdb.php?prot=AMPQ_HUMAN&from=97&to=506&var=T185M	ENST00000357872		ENSG00000172901			14	0.015		Uniprot_gn	p.T185M		AQPEP		SNV							ENST00000357872	protein_coding	getma.org/?cm=var&var=hg19,5,115298868,C,T&fts=all		Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533		T/M		T	neutral	678/4581		getma.org/?cm=msa&ty=f&p=AMPQ_HUMAN&rb=97&re=506&var=T185M	tolerated(0.47)				YES	AQPEP,missense_variant,p.Thr185Met,ENST00000357872,NM_173800.4;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,missense_variant,p.Thr185Met,ENST00000504467,;							MODERATE	554/2973	T185M	AMPQ_HUMAN			Transcript		benign(0.01)	.	ENSP00000350541		CCDS4124.1			1	
SNUPN	0	LGGM	GRCh37	15	75909838	75909838	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	44	4	.	.	ENST00000564644.1:c.214G>T	p.Gly72Trp	p.G72W	ENST00000564644		72	Ggg/Tgg	0	1		UPI0000031A89	0	getma.org/pdb.php?prot=SPN1_HUMAN&from=11&to=73&var=G72W	ENST00000308588		ENSG00000169371	14245		48	1.5		HGNC	p.G72W		SNUPN		SNV							ENST00000569817	protein_coding	getma.org/?cm=var&var=hg19,15,75909838,C,A&fts=all		PIRSF_domain:PIRSF037955,PROSITE_profiles:PS51214,hmmpanther:PTHR13403,hmmpanther:PTHR13403:SF6		G/W		A	low	369/1513		getma.org/?cm=msa&ty=f&p=SPN1_HUMAN&rb=11&re=73&var=G72W	deleterious(0)	H3BTA6_HUMAN,H3BSK1_HUMAN,H3BRI5_HUMAN,H3BQR0_HUMAN				SNUPN,missense_variant,p.Gly72Trp,ENST00000564644,;SNUPN,missense_variant,p.Gly114Trp,ENST00000371091,;SNUPN,missense_variant,p.Gly72Trp,ENST00000564675,;SNUPN,missense_variant,p.Gly72Trp,ENST00000567134,NM_001042588.1;SNUPN,missense_variant,p.Gly72Trp,ENST00000308588,NM_001042581.1,NM_005701.3;SNUPN,missense_variant,p.Gly72Trp,ENST00000569817,;SNUPN,missense_variant,p.Gly10Trp,ENST00000568078,;SNUPN,missense_variant,p.Gly72Trp,ENST00000568162,;SNUPN,missense_variant,p.Gly72Trp,ENST00000564086,;SNUPN,downstream_gene_variant,,ENST00000563793,;SNUPN,downstream_gene_variant,,ENST00000563875,;							MODERATE	214/1083	G72W	SPN1_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000309831		CCDS10281.1			1	
GIMAP2	0	LGGM	GRCh37	7	150390060	150390060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	42	4	.	.	ENST00000223293.5:c.686C>A	p.Pro229His	p.P229H	ENST00000223293	NM_015660.2	229	cCt/cAt	0	1	1	UPI000006D114	0	getma.org/pdb.php?prot=GIMA2_HUMAN&from=23&to=234&var=P229H	ENST00000223293		ENSG00000106560	21789		46	1.5		HGNC	p.P229H		GIMAP2		SNV							ENST00000223293	protein_coding	getma.org/?cm=var&var=hg19,7,150390060,C,A&fts=all		hmmpanther:PTHR10903:SF28,hmmpanther:PTHR10903		P/H		A	low	780/1449		getma.org/?cm=msa&ty=f&p=GIMA2_HUMAN&rb=23&re=234&var=P229H	deleterious(0.03)				YES	GIMAP2,missense_variant,p.Pro229His,ENST00000223293,NM_015660.2;GIMAP2,downstream_gene_variant,,ENST00000474605,;							MODERATE	686/1014	P229H	GIMA2_HUMAN			Transcript		benign(0.005)	.	ENSP00000223293		CCDS5905.1			1	
CCDC92	0	LGGM	GRCh37	12	124427323	124427323	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	53	4	.	.	ENST00000238156.3:c.191A>G	p.Tyr64Cys	p.Y64C	ENST00000238156	NM_025140.1	64	tAt/tGt	0	1	1	UPI000006FF96	0	NA	ENST00000238156		ENSG00000119242	29563		57	1.85		HGNC	p.Y47C		CCDC92		SNV							ENST00000545891	protein_coding	getma.org/?cm=var&var=hg19,12,124427323,T,C&fts=all		Pfam_domain:PF14916,hmmpanther:PTHR14882,hmmpanther:PTHR14882:SF4		Y/C		C	low	546/2000		getma.org/?cm=msa&ty=f&p=CCD92_HUMAN&rb=1&re=200&var=Y64C	tolerated(0.11)	F5H7P8_HUMAN,F5H2Z7_HUMAN,F5H285_HUMAN,B3KNQ0_HUMAN			YES	CCDC92,missense_variant,p.Tyr47Cys,ENST00000545135,;CCDC92,missense_variant,p.Tyr64Cys,ENST00000238156,NM_025140.1;CCDC92,missense_variant,p.Tyr47Cys,ENST00000545891,;CCDC92,missense_variant,p.Tyr64Cys,ENST00000539551,;CCDC92,missense_variant,p.Tyr64Cys,ENST00000539761,;CCDC92,missense_variant,p.Tyr47Cys,ENST00000535556,;CCDC92,downstream_gene_variant,,ENST00000545037,;CCDC92,non_coding_transcript_exon_variant,,ENST00000544798,;CCDC92,non_coding_transcript_exon_variant,,ENST00000542348,;							MODERATE	191/996	Y64C	CCD92_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000238156		CCDS9256.1			1	
CPLX4	0	LGGM	GRCh37	18	56963971	56963971	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	11	4	.	.	ENST00000299721.3:c.442G>A	p.Glu148Lys	p.E148K	ENST00000299721	NM_181654.3	148	Gaa/Aaa	0	1	1	UPI000013E5DC	0	NA	ENST00000299721		ENSG00000166569	24330		15	2.045		HGNC	p.E148K		CPLX4		SNV							ENST00000299721	protein_coding	getma.org/?cm=var&var=hg19,18,56963971,C,T&fts=all		hmmpanther:PTHR16705,hmmpanther:PTHR16705:SF7		E/K		T	medium	629/1966		getma.org/?cm=msa&ty=f&p=CPLX4_HUMAN&rb=112&re=160&var=E148K	deleterious(0.02)	F1T0L6_HUMAN			YES	CPLX4,missense_variant,p.Glu148Lys,ENST00000299721,NM_181654.3;CPLX4,intron_variant,,ENST00000587244,;							MODERATE	442/483	E148K	CPLX4_HUMAN			Transcript		benign(0.193)	.	ENSP00000299721		CCDS11973.1			1	
CYP2E1	0	LGGM	GRCh37	10	135347286	135347286	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	15	4	.	.	ENST00000463117.2:c.852C>A	p.Tyr284Ter	p.Y284*	ENST00000463117		284	taC/taA	0	1		UPI0000128291	0	NA	ENST00000252945		ENSG00000130649	2631		19	0		HGNC	p.Y147X		CYP2E1		SNV							ENST00000418356	protein_coding	getma.org/?cm=var&var=hg19,10,135347286,C,A&fts=all		hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR01687		Y/*		A	NA	885/1667		NA		Q4LBD0_HUMAN,F5H694_HUMAN				CYP2E1,stop_gained,p.Tyr284Ter,ENST00000463117,;CYP2E1,stop_gained,p.Tyr284Ter,ENST00000252945,NM_000773.3;CYP2E1,stop_gained,p.Tyr197Ter,ENST00000421586,;CYP2E1,stop_gained,p.Tyr147Ter,ENST00000418356,;SPRN,intron_variant,,ENST00000541506,;AL161645.2,upstream_gene_variant,,ENST00000599428,;CYP2E1,downstream_gene_variant,,ENST00000480558,;CYP2E1,upstream_gene_variant,,ENST00000469258,;CYP2E1,downstream_gene_variant,,ENST00000477500,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;CYP2E1,intron_variant,,ENST00000541080,;							HIGH	852/1482	Y284*	CP2E1_HUMAN			Transcript			.	ENSP00000252945		CCDS7686.1			1	
TMPRSS3	0	LGGM	GRCh37	21	43805574	43805574	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	78	4	.	.	ENST00000291532.3:c.516C>A	p.Ile172=	p.I172=	ENST00000291532	NM_032404.2	172	atC/atA	0	1	1	UPI0000047B13	0		ENST00000291532		ENSG00000160183	11877	8.64E-05	82			HGNC	p.I172I	rs141476064	TMPRSS3		SNV	A:0.0014		1				ENST00000398397	protein_coding			PROSITE_profiles:PS50287,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,Pfam_domain:PF15494,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487		I	A:0.0001	T		1472/3193	4.50E-05						YES	TMPRSS3,synonymous_variant,p.=,ENST00000291532,NM_032404.2;TMPRSS3,synonymous_variant,p.=,ENST00000380399,;TMPRSS3,synonymous_variant,p.=,ENST00000398405,;TMPRSS3,synonymous_variant,p.=,ENST00000433957,NM_001256317.1,NM_024022.2;TMPRSS3,synonymous_variant,p.=,ENST00000398397,NM_032405.1;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,upstream_gene_variant,,ENST00000478680,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;TMPRSS3,upstream_gene_variant,,ENST00000476848,;							LOW	516/1365		TMPS3_HUMAN			Transcript			.	ENSP00000291532	3.29E-05	CCDS13686.1			1	
PLOD3	0	LGGM	GRCh37	7	100853926	100853926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	20	4	.	.	ENST00000223127.3:c.1387C>A	p.Gln463Lys	p.Q463K	ENST00000223127	NM_001084.4	463	Cag/Aag	0	1	1	UPI0000046664	0	NA	ENST00000223127		ENSG00000106397	9083		24	1.24		HGNC	p.Q463K		PLOD3		SNV			1				ENST00000223127	protein_coding	getma.org/?cm=var&var=hg19,7,100853926,G,T&fts=all		hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF7,Superfamily_domains:SSF53448		Q/K		T	low	1786/2920		getma.org/?cm=msa&ty=f&p=PLOD3_HUMAN&rb=401&re=600&var=Q463K	tolerated(0.16)	C9JIX5_HUMAN			YES	PLOD3,missense_variant,p.Gln463Lys,ENST00000223127,NM_001084.4;PLOD3,missense_variant,p.Gln38Lys,ENST00000454310,;PLOD3,missense_variant,p.Gln254Lys,ENST00000421736,;PLOD3,3_prime_UTR_variant,,ENST00000440925,;PLOD3,non_coding_transcript_exon_variant,,ENST00000466881,;PLOD3,non_coding_transcript_exon_variant,,ENST00000460132,;PLOD3,downstream_gene_variant,,ENST00000478082,;PLOD3,downstream_gene_variant,,ENST00000460475,;PLOD3,upstream_gene_variant,,ENST00000487563,;PLOD3,downstream_gene_variant,,ENST00000478264,;PLOD3,downstream_gene_variant,,ENST00000424135,;PLOD3,downstream_gene_variant,,ENST00000463479,;							MODERATE	1387/2217	Q463K	PLOD3_HUMAN			Transcript		benign(0.01)	.	ENSP00000223127		CCDS5715.1			1	
IMP4	0	LGGM	GRCh37	2	131102218	131102218	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	25	4	.	.	ENST00000259239.3:c.129C>A	p.Pro43=	p.P43=	ENST00000259239	NM_033416.1	43	ccC/ccA	0	1	1	UPI0000071F26	0		ENST00000259239		ENSG00000136718	30856		29			HGNC	p.P43P		IMP4		SNV							ENST00000259239	protein_coding			hmmpanther:PTHR22734,hmmpanther:PTHR22734:SF2		P		A		837/1740				Q3ZTT3_HUMAN,B9A008_HUMAN			YES	IMP4,synonymous_variant,p.=,ENST00000259239,NM_033416.1;IMP4,synonymous_variant,p.=,ENST00000409935,;IMP4,synonymous_variant,p.=,ENST00000452955,;IMP4,5_prime_UTR_variant,,ENST00000428740,;IMP4,5_prime_UTR_variant,,ENST00000409649,;CCDC115,upstream_gene_variant,,ENST00000259229,NM_032357.2;CCDC115,upstream_gene_variant,,ENST00000437688,;CCDC115,upstream_gene_variant,,ENST00000409127,;IMP4,synonymous_variant,p.=,ENST00000456713,;IMP4,non_coding_transcript_exon_variant,,ENST00000460766,;IMP4,non_coding_transcript_exon_variant,,ENST00000462392,;IMP4,non_coding_transcript_exon_variant,,ENST00000464432,;IMP4,non_coding_transcript_exon_variant,,ENST00000473689,;IMP4,non_coding_transcript_exon_variant,,ENST00000490895,;IMP4,non_coding_transcript_exon_variant,,ENST00000470672,;IMP4,non_coding_transcript_exon_variant,,ENST00000477375,;IMP4,non_coding_transcript_exon_variant,,ENST00000495606,;CCDC115,upstream_gene_variant,,ENST00000465315,;CCDC115,upstream_gene_variant,,ENST00000442217,;IMP4,upstream_gene_variant,,ENST00000460100,;IMP4,upstream_gene_variant,,ENST00000462357,;IMP4,upstream_gene_variant,,ENST00000475074,;							LOW	129/876		IMP4_HUMAN			Transcript			.	ENSP00000259239		CCDS2160.1			1	
PLXDC2	0	LGGM	GRCh37	10	20436783	20436783	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	34	4	.	.	ENST00000377252.4:c.735C>A	p.Phe245Leu	p.F245L	ENST00000377252	NM_032812.7	245	ttC/ttA	0	1	1	UPI0000048F2C	0	NA	ENST00000377252		ENSG00000120594	21013		38	2.89		HGNC	p.F245L		PLXDC2		SNV							ENST00000377252	protein_coding	getma.org/?cm=var&var=hg19,10,20436783,C,A&fts=all		hmmpanther:PTHR13055,hmmpanther:PTHR13055:SF11		F/L		A	medium	1576/12468		getma.org/?cm=msa&ty=f&p=PXDC2_HUMAN&rb=75&re=274&var=F245L	deleterious(0)				YES	PLXDC2,missense_variant,p.Phe245Leu,ENST00000377252,NM_032812.7;PLXDC2,missense_variant,p.Phe196Leu,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;							MODERATE	735/1590	F245L	PXDC2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000366460		CCDS7132.1			1	
KRTAP4-8	0	LGGM	GRCh37	17	39254276	39254276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	41	4	.	.	ENST00000333822.4:c.61C>A	p.Gln21Lys	p.Q21K	ENST00000333822	NM_031960.2	21	Cag/Aag	0	1	1	UPI0000366BFD	0	NA	ENST00000333822		ENSG00000204880	17230		45	2.215		HGNC	p.Q21K		KRTAP4-8		SNV							ENST00000333822	protein_coding	getma.org/?cm=var&var=hg19,17,39254276,G,T&fts=all		Pfam_domain:PF13885,hmmpanther:PTHR23262,Low_complexity_(Seg):seg		Q/K		T	medium	118/1161		getma.org/?cm=msa&ty=f&p=KRA48_HUMAN&rb=1&re=33&var=Q21K	deleterious(0.03)				YES	KRTAP4-8,missense_variant,p.Gln21Lys,ENST00000333822,NM_031960.2;KRTAP4-16P,downstream_gene_variant,,ENST00000440582,;							MODERATE	61/558	Q21K	KRA48_HUMAN			Transcript		unknown(0)	.	ENSP00000328444		CCDS45674.1			1	
IQCE	0	LGGM	GRCh37	7	2638218	2638218	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	47	4	.	.	ENST00000402050.2:c.1560C>T	p.Asp520=	p.D520=	ENST00000402050	NM_152558.3	520	gaC/gaT	0	1	1	UPI000020E9EF	0		ENST00000402050		ENSG00000106012	29171		51			HGNC	p.D455D	rs761339664	IQCE		SNV							ENST00000325979	protein_coding			hmmpanther:PTHR22590		D		T		1744/6844				C9JX25_HUMAN,C9JP75_HUMAN			YES	IQCE,synonymous_variant,p.=,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,synonymous_variant,p.=,ENST00000404984,;IQCE,synonymous_variant,p.=,ENST00000325979,;IQCE,synonymous_variant,p.=,ENST00000438376,NM_001287500.1;IQCE,synonymous_variant,p.=,ENST00000423196,;IQCE,non_coding_transcript_exon_variant,,ENST00000486730,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;IQCE,non_coding_transcript_exon_variant,,ENST00000490913,;							LOW	1560/2088		IQCE_HUMAN			Transcript			.	ENSP00000385597		CCDS43542.1			1	
FIBP	0	LGGM	GRCh37	11	65652085	65652085	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	4	.	.	ENST00000338369.2:c.883C>A	p.His295Asn	p.H295N	ENST00000338369	NM_198897.1	295	Cac/Aac	0	1	1	UPI000012A79E	0	NA	ENST00000338369		ENSG00000172500	3705		41	0.69		HGNC	p.H285N		FIBP		SNV							ENST00000533045	protein_coding	getma.org/?cm=var&var=hg19,11,65652085,G,T&fts=all		Pfam_domain:PF05427,hmmpanther:PTHR13223,hmmpanther:PTHR13223:SF2		H/N		T	neutral	996/1261		getma.org/?cm=msa&ty=f&p=FIBP_HUMAN&rb=2&re=364&var=H295N	tolerated(0.16)	B4DKH9_HUMAN			YES	FIBP,missense_variant,p.His295Asn,ENST00000338369,NM_198897.1;FIBP,missense_variant,p.His288Asn,ENST00000357519,NM_004214.4;FIBP,missense_variant,p.His285Asn,ENST00000533045,;CTSW,downstream_gene_variant,,ENST00000528419,;CTSW,downstream_gene_variant,,ENST00000307886,NM_001335.3;CTSW,downstream_gene_variant,,ENST00000526034,;FIBP,downstream_gene_variant,,ENST00000426652,;FIBP,missense_variant,p.His90Asn,ENST00000531115,;FIBP,3_prime_UTR_variant,,ENST00000533037,;FIBP,non_coding_transcript_exon_variant,,ENST00000534032,;FIBP,non_coding_transcript_exon_variant,,ENST00000525765,;FIBP,downstream_gene_variant,,ENST00000528937,;FIBP,downstream_gene_variant,,ENST00000532679,;FIBP,downstream_gene_variant,,ENST00000442885,;FIBP,downstream_gene_variant,,ENST00000532229,;CTSW,downstream_gene_variant,,ENST00000524681,;FIBP,downstream_gene_variant,,ENST00000532934,;							MODERATE	883/1095	H295N	FIBP_HUMAN			Transcript		benign(0.066)	.	ENSP00000344572		CCDS8119.1			1	
EPHA6	0	LGGM	GRCh37	3	97202788	97202788	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	93	4	.	.	ENST00000389672.5:c.2085G>T	p.Pro695=	p.P695=	ENST00000389672	NM_001080448.2	695	ccG/ccT	0	1	1	UPI000004BB12	0		ENST00000389672		ENSG00000080224	19296		97			HGNC	p.P61P	COSM3767599,COSM3767597,COSM3767598	EPHA6		SNV						1,1,1	ENST00000508345	protein_coding			Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24		P		T		2123/3971				H0Y8K5_HUMAN			YES	EPHA6,synonymous_variant,p.=,ENST00000389672,NM_001080448.2;EPHA6,synonymous_variant,p.=,ENST00000514100,NM_001278300.1;EPHA6,synonymous_variant,p.=,ENST00000502694,NM_173655.3;EPHA6,synonymous_variant,p.=,ENST00000442602,;EPHA6,synonymous_variant,p.=,ENST00000477384,;EPHA6,synonymous_variant,p.=,ENST00000503760,;EPHA6,synonymous_variant,p.=,ENST00000508345,;RP11-529P9.1,upstream_gene_variant,,ENST00000381974,;					1,1,1		LOW	2085/3393					Transcript			.	ENSP00000374323		CCDS46876.1			1	
PHF8	0	LGGM	GRCh37	X	54012372	54012372	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	4	.	.	ENST00000357988.5:c.2114C>A	p.Thr705Lys	p.T705K	ENST00000357988	NM_001184896.1	705	aCa/aAa	0	1	1	UPI00001C2071	0	NA	ENST00000357988		ENSG00000172943	20672		39	0.69		HGNC	p.T568K		PHF8		SNV			1				ENST00000338946	protein_coding	getma.org/?cm=var&var=hg19,X,54012372,G,T&fts=all		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF11		T/K		T	neutral	2473/6024		getma.org/?cm=msa&ty=f&p=PHF8_HUMAN&rb=641&re=1059&var=T705K	tolerated(0.15)	Q5JPR8_HUMAN,B3KMV4_HUMAN,B0QZZ4_HUMAN,B0QZZ3_HUMAN,B0QZZ2_HUMAN,B0QZE1_HUMAN			YES	PHF8,missense_variant,p.Thr669Lys,ENST00000338154,NM_015107.2;PHF8,missense_variant,p.Thr705Lys,ENST00000357988,NM_001184896.1;PHF8,missense_variant,p.Thr568Lys,ENST00000338946,NM_001184897.1;PHF8,missense_variant,p.Thr573Lys,ENST00000396282,;PHF8,missense_variant,p.Thr669Lys,ENST00000322659,NM_001184898.1;PHF8,missense_variant,p.Thr433Lys,ENST00000443302,;PHF8,downstream_gene_variant,,ENST00000494928,;							MODERATE	2114/3183	T705K	PHF8_HUMAN			Transcript		benign(0.047)	.	ENSP00000350676		CCDS55420.1			1	
PCED1A	0	LGGM	GRCh37	20	2819363	2819363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	89	5	.	.	ENST00000360652.2:c.473G>T	p.Arg158Leu	p.R158L	ENST00000360652	NM_022760.4	158	cGg/cTg	0	1	1	UPI00001285EE	0	NA	ENST00000360652		ENSG00000132635	16212		94	0.315		HGNC	p.R158L		PCED1A		SNV							ENST00000360652	protein_coding	getma.org/?cm=var&var=hg19,20,2819363,C,A&fts=all		Gene3D:3.40.50.1110,Pfam_domain:PF13839,hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF3,Superfamily_domains:SSF52266		R/L		A	neutral	976/2016		getma.org/?cm=msa&ty=f&p=F113A_HUMAN&rb=21&re=268&var=R158L	tolerated(0.34)				YES	PCED1A,missense_variant,p.Arg158Leu,ENST00000360652,NM_022760.4;PCED1A,missense_variant,p.Arg107Leu,ENST00000356872,NM_001271168.1;PCED1A,missense_variant,p.Arg158Leu,ENST00000439542,;PCED1A,missense_variant,p.Arg107Leu,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,non_coding_transcript_exon_variant,,ENST00000487501,;							MODERATE	473/1365	R158L	PED1A_HUMAN			Transcript		benign(0.062)	.	ENSP00000353868		CCDS13035.1			1	
IL1RAPL2	0	LGGM	GRCh37	X	104512190	104512190	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	57	5	.	.	ENST00000372582.1:c.663A>G	p.Lys221=	p.K221=	ENST00000372582	NM_017416.1	221	aaA/aaG	0	1	1	UPI0000073DF7	0		ENST00000372582		ENSG00000189108	5997		62			HGNC	p.K221K		IL1RAPL2		SNV							ENST00000372582	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726		K		G		1419/2985							YES	IL1RAPL2,synonymous_variant,p.=,ENST00000372582,NM_017416.1;IL1RAPL2,synonymous_variant,p.=,ENST00000344799,;							LOW	663/2061		IRPL2_HUMAN			Transcript			.	ENSP00000361663		CCDS14517.1			1	
CNTN1	0	LGGM	GRCh37	12	41327631	41327631	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	81	5	.	.	ENST00000551295.2:c.936T>A	p.Ala312=	p.A312=	ENST00000551295	NM_001843.3	312	gcT/gcA	0	1		UPI0000127EBA	0		ENST00000347616		ENSG00000018236	2171		86			HGNC	p.A301A		CNTN1		SNV			1				ENST00000348761	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		A		A		1015/3393				F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN				CNTN1,synonymous_variant,p.=,ENST00000551295,NM_001843.3;CNTN1,synonymous_variant,p.=,ENST00000347616,;CNTN1,synonymous_variant,p.=,ENST00000348761,NM_175038.2;CNTN1,synonymous_variant,p.=,ENST00000547849,NM_001256064.1;CNTN1,synonymous_variant,p.=,ENST00000547702,NM_001256063.1;CNTN1,synonymous_variant,p.=,ENST00000360099,;							LOW	936/3057		CNTN1_HUMAN			Transcript			.	ENSP00000325660		CCDS8737.1			1	
LAMC3	0	LGGM	GRCh37	9	133911571	133911571	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	23	6	.	.	ENST00000361069.4:c.828T>G	p.His276Gln	p.H276Q	ENST00000361069	NM_006059.3	276	caT/caG	0	1	1	UPI000013D6D3	0	getma.org/pdb.php?prot=LAMC3_HUMAN&from=271&to=324&var=H276Q	ENST00000361069		ENSG00000050555	6494		29	4.285		HGNC	p.H276Q		LAMC3		SNV			1				ENST00000361069	protein_coding	getma.org/?cm=var&var=hg19,9,133911571,T,G&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00180,Superfamily_domains:SSF57196		H/Q		G	high	961/6133		getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=271&re=324&var=H276Q	deleterious(0)	Q5JTC4_HUMAN			YES	LAMC3,missense_variant,p.His276Gln,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;							MODERATE	828/4728	H276Q	LAMC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354360		CCDS6938.1			1	
CENPE	0	LGGM	GRCh37	4	104082321	104082321	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	31	6	.	.	ENST00000265148.3:c.2053G>A	p.Asp685Asn	p.D685N	ENST00000265148	NM_001813.2	685	Gat/Aat	0	1	1	UPI000020B28A	0	NA	ENST00000265148		ENSG00000138778	1856		37	2.135		HGNC	p.D685N	COSM1309581	CENPE		SNV			1			1	ENST00000265148	protein_coding	getma.org/?cm=var&var=hg19,4,104082321,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		D/N		T	medium	2143/8612		getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=641&re=1119&var=D685N		D6RBW0_HUMAN			YES	CENPE,missense_variant,p.Asp685Asn,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Asp660Asn,ENST00000380026,NM_001286734.1;CENPE,missense_variant,p.Asp685Asn,ENST00000503705,;					1		MODERATE	2053/8106	D685N	CENPE_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265148		CCDS34042.1			1	
ZNHIT6	0	LGGM	GRCh37	1	86173784	86173784	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	60	7	.	.	ENST00000370574.3:c.184G>T	p.Glu62Ter	p.E62*	ENST00000370574		62	Gaa/Taa	0	1	1	UPI000006D8D2	0	NA	ENST00000370574		ENSG00000117174	26089		67	0		HGNC	p.E62X		ZNHIT6		SNV							ENST00000370574	protein_coding	getma.org/?cm=var&var=hg19,1,86173784,C,A&fts=all		hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF3		E/*		A	NA	318/2797		NA					YES	ZNHIT6,stop_gained,p.Glu62Ter,ENST00000431532,NM_001170670.1,NM_017953.3;ZNHIT6,stop_gained,p.Glu62Ter,ENST00000370574,;							HIGH	184/1413	E62*	BCD1_HUMAN			Transcript			.	ENSP00000359606		CCDS707.1			1	
PTCHD3	0	LGGM	GRCh37	10	27687382	27687382	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	41	7	.	.	ENST00000438700.3:c.2145G>C	p.Lys715Asn	p.K715N	ENST00000438700	NM_001034842.3	715	aaG/aaC	0	1	1	UPI000004E892	0	NA	ENST00000438700		ENSG00000182077	24776		48	2.44		HGNC	p.K715N		PTCHD3		SNV							ENST00000438700	protein_coding	getma.org/?cm=var&var=hg19,10,27687382,C,G&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460		K/N		G	medium	2263/2529		getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=K715N	deleterious(0)	I0CMK0_HUMAN			YES	PTCHD3,missense_variant,p.Lys715Asn,ENST00000438700,NM_001034842.3;							MODERATE	2145/2304	K715N	PTHD3_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000417658		CCDS31173.1			1	
C1orf146	0	LGGM	GRCh37	1	92709835	92709835	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	7	.	.	ENST00000370375.3:c.222A>G	p.Leu74=	p.L74=	ENST00000370375	NM_001012425.1	74	ctA/ctG	0	1	1	UPI0000185FBA	0		ENST00000370375		ENSG00000203910	24032		42			HGNC	p.L74L		C1orf146		SNV							ENST00000370375	protein_coding			Pfam_domain:PF15162,hmmpanther:PTHR31408,hmmpanther:PTHR31408:SF2		L		G		370/830							YES	C1orf146,synonymous_variant,p.=,ENST00000370373,;C1orf146,synonymous_variant,p.=,ENST00000370375,NM_001012425.1;GLMN,downstream_gene_variant,,ENST00000370360,NM_053274.2;GLMN,downstream_gene_variant,,ENST00000534881,;GLMN,downstream_gene_variant,,ENST00000495852,;GLMN,downstream_gene_variant,,ENST00000495106,;GLMN,downstream_gene_variant,,ENST00000471465,;							LOW	222/543		CA146_HUMAN			Transcript			.	ENSP00000359401		CCDS30772.1			1	
ANGPT4	0	LGGM	GRCh37	20	896683	896683	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	20	8	.	.	ENST00000381922.3:c.175C>T	p.Pro59Ser	p.P59S	ENST00000381922	NM_015985.2	59	Cct/Tct	0	1	1	UPI0000062232	0	NA	ENST00000381922		ENSG00000101280	487		28	1.1		HGNC	p.P59S		ANGPT4		SNV							ENST00000546022	protein_coding	getma.org/?cm=var&var=hg19,20,896683,G,A&fts=all		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF31		P/S		A	low	278/1922		getma.org/?cm=msa&ty=f&p=ANGP4_HUMAN&rb=1&re=209&var=P59S	tolerated(0.31)				YES	ANGPT4,missense_variant,p.Pro59Ser,ENST00000381922,NM_015985.2;ANGPT4,missense_variant,p.Pro59Ser,ENST00000546022,;							MODERATE	175/1512	P59S	ANGP4_HUMAN			Transcript		benign(0.018)	.	ENSP00000371347		CCDS13009.1			1	
CCIN	0	LGGM	GRCh37	9	36170090	36170090	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	29	8	.	.	ENST00000335119.2:c.591G>A	p.Ala197=	p.A197=	ENST00000335119	NM_005893.2	197	gcG/gcA	0	1	1	UPI000006EB8E	0		ENST00000335119		ENSG00000185972	1568		37			HGNC	p.A197A	rs377033104	CCIN	6.06E-05	SNV	C:0						ENST00000335119	protein_coding			SMART_domains:SM00875,Pfam_domain:PF07707,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF163		A	C:0.0001	A		702/1941				Q8WX35_HUMAN			YES	CCIN,synonymous_variant,p.=,ENST00000335119,NM_005893.2;							LOW	591/1767		CALI_HUMAN			Transcript			.	ENSP00000334996	8.24E-06	CCDS6599.1			1	
NEUROD1	0	LGGM	GRCh37	2	182543322	182543322	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	22	8	.	.	ENST00000295108.3:c.266A>G	p.Lys89Arg	p.K89R	ENST00000295108	NM_002500.4	89	aAg/aGg	0	1	1	UPI000013E207	0	NA	ENST00000295108		ENSG00000162992	7762		30	1.31		HGNC	p.K89R		NEUROD1		SNV			1				ENST00000295108	protein_coding	getma.org/?cm=var&var=hg19,2,182543322,T,C&fts=all		PIRSF_domain:PIRSF015618,hmmpanther:PTHR19290,hmmpanther:PTHR19290:SF88,Low_complexity_(Seg):seg		K/R		C	low	724/2852		getma.org/?cm=msa&ty=f&p=NDF1_HUMAN&rb=1&re=101&var=K89R	tolerated(0.21)				YES	NEUROD1,missense_variant,p.Lys89Arg,ENST00000295108,NM_002500.4;AC013733.3,upstream_gene_variant,,ENST00000440371,;CERKL,intron_variant,,ENST00000479558,;CERKL,intron_variant,,ENST00000497337,;NEUROD1,intron_variant,,ENST00000496876,;							MODERATE	266/1071	K89R	NDF1_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000295108		CCDS2283.1			1	
KCTD8	0	LGGM	GRCh37	4	44177186	44177186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	36	8	.	.	ENST00000360029.3:c.1043G>T	p.Ser348Ile	p.S348I	ENST00000360029	NM_198353.2	348	aGt/aTt	0	1	1	UPI00001C08D6	0	NA	ENST00000360029		ENSG00000183783	22394		44	1.04		HGNC	p.S348I		KCTD8		SNV							ENST00000360029	protein_coding	getma.org/?cm=var&var=hg19,4,44177186,C,A&fts=all		hmmpanther:PTHR14499:SF68,hmmpanther:PTHR14499		S/I		A	low	1327/2587		getma.org/?cm=msa&ty=f&p=KCTD8_HUMAN&rb=329&re=471&var=S348I	deleterious(0.01)	B4DQJ9_HUMAN			YES	KCTD8,missense_variant,p.Ser348Ile,ENST00000360029,NM_198353.2;KCTD8,missense_variant,p.Ser84Ile,ENST00000515268,;							MODERATE	1043/1422	S348I	KCTD8_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000353129		CCDS3467.1			1	
PEG3	0	LGGM	GRCh37	19	57327055	57327055	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	63	9	.	.	ENST00000326441.9:c.2755G>C	p.Asp919His	p.D919H	ENST00000326441	NM_006210.2	919	Gat/Cat	0	1	1	UPI000006D36D	0	NA	ENST00000326441		ENSG00000198300	8826		72	1.955		HGNC	p.D919H		PEG3		SNV							ENST00000599577	protein_coding	getma.org/?cm=var&var=hg19,19,57327055,C,G&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78		D/H		G	medium	3119/8723		getma.org/?cm=msa&ty=f&p=PEG3_HUMAN&rb=850&re=968&var=D919H	deleterious(0.03)	M0QXG1_HUMAN			YES	PEG3,missense_variant,p.Asp919His,ENST00000326441,NM_006210.2;PEG3,missense_variant,p.Asp919His,ENST00000423103,NM_001146184.1;PEG3,missense_variant,p.Asp795His,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,missense_variant,p.Asp919His,ENST00000599534,NM_001146186.1;PEG3,missense_variant,p.Asp919His,ENST00000599577,;PEG3,missense_variant,p.Asp793His,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,;							MODERATE	2755/4767	D919H	PEG3_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000326581		CCDS12948.1			1	
RFX3	0	LGGM	GRCh37	9	3324021	3324021	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	97	10	.	.	ENST00000382004.3:c.474+6238A>G		*158*	ENST00000382004	NM_134428.1			0	1	1	UPI0000070BFB	0		ENST00000382004		ENSG00000080298	9984		107			HGNC	p.K144K		RFX3		SNV							ENST00000420720	protein_coding							C		-/9307				F6XM74_HUMAN,F6USP3_HUMAN			YES	RFX3,synonymous_variant,p.=,ENST00000420720,;RFX3,3_prime_UTR_variant,,ENST00000442560,;RFX3,intron_variant,,ENST00000382004,NM_134428.1,NM_001282116.1;RFX3,intron_variant,,ENST00000302303,NM_002919.2;RFX3,intron_variant,,ENST00000358730,;RFX3,intron_variant,,ENST00000457373,;RFX3,intron_variant,,ENST00000451859,;							MODIFIER	-/2250		RFX3_HUMAN			Transcript			.	ENSP00000371434		CCDS6449.1			1	
MAN1B1	0	LGGM	GRCh37	9	140000612	140000612	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	10	10	.	.	ENST00000371589.4:c.1290C>G	p.Gly430=	p.G430=	ENST00000371589	NM_016219.4	430	ggC/ggG	0	1	1	UPI0000169E6E	0		ENST00000371589		ENSG00000177239	6823		20			HGNC	p.G133G		MAN1B1		SNV			1				ENST00000474902	protein_coding			hmmpanther:PTHR11742:SF7,hmmpanther:PTHR11742,Pfam_domain:PF01532,Gene3D:1.50.10.50,Superfamily_domains:SSF48225		G		G		1363/2765				Q8N2P4_HUMAN,B3KQC5_HUMAN			YES	MAN1B1,synonymous_variant,p.=,ENST00000371589,NM_016219.4;MAN1B1,synonymous_variant,p.=,ENST00000474902,;MAN1B1,synonymous_variant,p.=,ENST00000535144,;DPP7,downstream_gene_variant,,ENST00000371579,NM_013379.2;MAN1B1,upstream_gene_variant,,ENST00000475449,;DPP7,downstream_gene_variant,,ENST00000463619,;MAN1B1,upstream_gene_variant,,ENST00000550113,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000540391,;MAN1B1,synonymous_variant,p.=,ENST00000544448,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000536349,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000535028,;MAN1B1,non_coding_transcript_exon_variant,,ENST00000480100,;MAN1B1,downstream_gene_variant,,ENST00000371587,;DPP7,downstream_gene_variant,,ENST00000473532,;DPP7,downstream_gene_variant,,ENST00000483783,;MAN1B1,upstream_gene_variant,,ENST00000536268,;DPP7,downstream_gene_variant,,ENST00000470766,;							LOW	1290/2100		MA1B1_HUMAN			Transcript			.	ENSP00000360645		CCDS7029.1			1	
ITPR2	0	LGGM	GRCh37	12	26816645	26816645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	204	10	.	.	ENST00000381340.3:c.1686C>A	p.His562Gln	p.H562Q	ENST00000381340	NM_002223.2	562	caC/caA	0	1	1	UPI00001FB7D2	0	getma.org/pdb.php?prot=ITPR2_HUMAN&from=471&to=677&var=H562Q	ENST00000381340		ENSG00000123104	6181		214	2.4		HGNC	p.H562Q		ITPR2		SNV							ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26816645,G,T&fts=all		Superfamily_domains:0048280,Gene3D:1n4kA02,Pfam_domain:PF01365,Prints_domain:PR00779,hmmpanther:PTHR13715		H/Q		T	medium	2103/10511		getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=471&re=677&var=H562Q	tolerated(0.08)	I1VE21_HUMAN			YES	ITPR2,missense_variant,p.His562Gln,ENST00000381340,NM_002223.2;							MODERATE	1686/8106	H562Q	ITPR2_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000370744		CCDS41764.1			1	
MOB3B	0	LGGM	GRCh37	9	27378418	27378418	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	53	10	.	.	ENST00000262244.5:c.419-19184G>A		*140*	ENST00000262244	NM_024761.4			0	1	1	UPI0000047ACB	0		ENST00000262244		ENSG00000120162	23825		63			HGNC	p.G106S		MOB3B		SNV							ENST00000443737	protein_coding							T		-/6454							YES	MOB3B,intron_variant,,ENST00000262244,NM_024761.4;MOB3B,intron_variant,,ENST00000603061,;							MODIFIER	-/651		MOB3B_HUMAN			Transcript			.	ENSP00000262244		CCDS6520.1			1	
PTCHD3	0	LGGM	GRCh37	10	27687852	27687852	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	44	10	.	.	ENST00000438700.3:c.1675T>C	p.Trp559Arg	p.W559R	ENST00000438700	NM_001034842.3	559	Tgg/Cgg	0	1	1	UPI000004E892	0	NA	ENST00000438700		ENSG00000182077	24776		54	0.345		HGNC	p.W559R	rs778449556	PTCHD3		SNV							ENST00000438700	protein_coding	getma.org/?cm=var&var=hg19,10,27687852,A,G&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460		W/R		G	neutral	1793/2529	1.50E-05	getma.org/?cm=msa&ty=f&p=PTHD3_HUMAN&rb=164&re=761&var=W559R	tolerated(0.35)	I0CMK0_HUMAN			YES	PTCHD3,missense_variant,p.Trp559Arg,ENST00000438700,NM_001034842.3;							MODERATE	1675/2304	W559R	PTHD3_HUMAN			Transcript		benign(0.001)	.	ENSP00000417658	8.24E-06	CCDS31173.1			1	
RIMS2	0	LGGM	GRCh37	8	104930675	104930675	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	52	10	.	.	ENST00000406091.3:c.2043A>G	p.Ile681Met	p.I681M	ENST00000406091	NM_001100117.2	681	atA/atG	0	1	1	UPI0001597063	0	NA	ENST00000406091		ENSG00000176406	17283		62	0.975		HGNC	p.I489M		RIMS2		SNV							ENST00000515551	protein_coding	getma.org/?cm=var&var=hg19,8,104930675,A,G&fts=all		hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157		I/M		G	low	2043/4050		getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=754&re=821&var=I759M	deleterious_low_confidence(0.01)	E9PFB6_HUMAN			YES	RIMS2,missense_variant,p.Ile489Met,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Ile459Met,ENST00000436393,;RIMS2,missense_variant,p.Ile681Met,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Ile489Met,ENST00000408894,;RIMS2,missense_variant,p.Ile536Met,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Ile681Met,ENST00000504942,;RIMS2,missense_variant,p.Ile489Met,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,;							MODERATE	2043/4050	I759M	RIMS2_HUMAN			Transcript		benign(0.005)	.	ENSP00000384892		CCDS55269.1			1	
OR1I1	0	LGGM	GRCh37	19	15198634	15198634	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	19	10	.	.	ENST00000209540.2:c.758G>A	p.Gly253Glu	p.G253E	ENST00000209540	NM_001004713.1	253	gGg/gAg	0	1	1	UPI0000130B3E	0	NA	ENST00000209540		ENSG00000094661	8207		29	4.285		HGNC	p.G253E	rs757175717	OR1I1		SNV							ENST00000209540	protein_coding	getma.org/?cm=var&var=hg19,19,15198634,G,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF121,PROSITE_profiles:PS50262		G/E		A	high	844/1242	1.50E-05	getma.org/?cm=msa&ty=f&p=OR1I1_HUMAN&rb=139&re=283&var=G253E	deleterious(0)				YES	OR1I1,missense_variant,p.Gly253Glu,ENST00000209540,NM_001004713.1;							MODERATE	758/1068	G253E	OR1I1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000209540	8.24E-06	CCDS32937.1			1	
ANO1	0	LGGM	GRCh37	11	69978024	69978024	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	28	11	.	.	ENST00000355303.5:c.1098-1G>T		p.X366_splice	ENST00000355303	NM_018043.5			0	1	1	UPI000013CE03	0		ENST00000355303		ENSG00000131620	21625		39			HGNC	-		ANO1		SNV							ENST00000355303	protein_coding							T		-/4790							YES	ANO1,splice_acceptor_variant,,ENST00000355303,NM_018043.5;ANO1,splice_acceptor_variant,,ENST00000538023,;ANO1,splice_acceptor_variant,,ENST00000398543,;ANO1,splice_acceptor_variant,,ENST00000531349,;ANO1,splice_acceptor_variant,,ENST00000530676,;ANO1,splice_acceptor_variant,,ENST00000316296,;ANO1,splice_acceptor_variant,,ENST00000530480,;RP11-805J14.3,intron_variant,,ENST00000530525,;							HIGH	1098/2961		ANO1_HUMAN			Transcript			.	ENSP00000347454		CCDS44663.1			1	
GOLGA3	0	LGGM	GRCh37	12	133360876	133360876	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	11	.	.	ENST00000204726.3:c.3141G>T	p.Leu1047=	p.L1047=	ENST00000204726	NM_005895.3	1047	ctG/ctT	0	1	1	UPI0000190979	0		ENST00000204726		ENSG00000090615	4426		29			HGNC	p.L1047L		GOLGA3		SNV							ENST00000204726	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902		L		A		3700/9252							YES	GOLGA3,synonymous_variant,p.=,ENST00000204726,NM_005895.3;GOLGA3,synonymous_variant,p.=,ENST00000450791,;GOLGA3,synonymous_variant,p.=,ENST00000456883,;GOLGA3,synonymous_variant,p.=,ENST00000545875,NM_001172557.1;GOLGA3,synonymous_variant,p.=,ENST00000537452,;							LOW	3141/4497		GOGA3_HUMAN			Transcript			.	ENSP00000204726		CCDS9281.1			1	
SMC4	0	LGGM	GRCh37	3	160135512	160135512	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	25	11	.	.	ENST00000357388.3:c.1439G>T	p.Ser480Ile	p.S480I	ENST00000357388	NM_001002800.1	480	aGt/aTt	0	1		UPI000006DA0A	0	NA	ENST00000344722		ENSG00000113810	14013		36	0.95		HGNC	p.S480I		SMC4		SNV							ENST00000462787	protein_coding	getma.org/?cm=var&var=hg19,3,160135512,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF148,Superfamily_domains:SSF57997		S/I		T	low	1784/5356		getma.org/?cm=msa&ty=f&p=SMC4_HUMAN&rb=83&re=1274&var=S480I	tolerated(0.16)	C9JWF0_HUMAN,C9JVD8_HUMAN,C9JR83_HUMAN,C9JJ64_HUMAN,C9J9E4_HUMAN,C9J578_HUMAN,C9IYK2_HUMAN				SMC4,missense_variant,p.Ser480Ile,ENST00000357388,NM_001002800.1;SMC4,missense_variant,p.Ser480Ile,ENST00000344722,NM_005496.3;SMC4,missense_variant,p.Ser480Ile,ENST00000462787,;SMC4,missense_variant,p.Ser480Ile,ENST00000360111,;SMC4,missense_variant,p.Ser455Ile,ENST00000469762,;SMC4,downstream_gene_variant,,ENST00000489573,;SMC4,downstream_gene_variant,,ENST00000470240,;SMC4,downstream_gene_variant,,ENST00000487747,;SMC4,downstream_gene_variant,,ENST00000494612,;SMC4,downstream_gene_variant,,ENST00000497984,;SMC4,splice_region_variant,,ENST00000462668,;SMC4,splice_region_variant,,ENST00000469858,;SMC4,non_coding_transcript_exon_variant,,ENST00000484799,;RP11-432B6.3,intron_variant,,ENST00000483754,;SMC4,downstream_gene_variant,,ENST00000468653,;SMC4,downstream_gene_variant,,ENST00000465563,;SMC4,upstream_gene_variant,,ENST00000497203,;SMC4,downstream_gene_variant,,ENST00000493695,;SMC4,downstream_gene_variant,,ENST00000467263,;							MODERATE	1439/3867	S480I	SMC4_HUMAN			Transcript		benign(0.021)	.	ENSP00000341382		CCDS3189.1			1	
RFC1	0	LGGM	GRCh37	4	39318611	39318611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	19	12	.	.	ENST00000381897.1:c.1127G>A	p.Arg376His	p.R376H	ENST00000381897	NM_002913.4	376	cGc/cAc	0	1	1	UPI0000167BB4	0	getma.org/pdb.php?prot=RFC1_HUMAN&from=201&to=400&var=R376H	ENST00000381897		ENSG00000035928	9969		31	2.135		HGNC	p.R376H	rs374549255,COSM4124584	RFC1		SNV	T:0.0002			0.000192		0,1	ENST00000349703	protein_coding	getma.org/?cm=var&var=hg19,4,39318611,C,T&fts=all		hmmpanther:PTHR11107,hmmpanther:PTHR11107:SF9,PIRSF_domain:PIRSF036578		R/H	T:0	T	medium	1261/4886	1.50E-05	getma.org/?cm=msa&ty=f&p=RFC1_HUMAN&rb=201&re=400&var=R376H	deleterious(0.03)				YES	RFC1,missense_variant,p.Arg376His,ENST00000381897,NM_002913.4,NM_001204747.1;RFC1,missense_variant,p.Arg376His,ENST00000349703,;RFC1,missense_variant,p.Arg8His,ENST00000504554,;RFC1,non_coding_transcript_exon_variant,,ENST00000512881,;RFC1,non_coding_transcript_exon_variant,,ENST00000509084,;RFC1,downstream_gene_variant,,ENST00000418436,;RFC1,upstream_gene_variant,,ENST00000502706,;RFC1,downstream_gene_variant,,ENST00000512726,;					0,1		MODERATE	1127/3447	R376H	RFC1_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000371321	2.47E-05	CCDS56329.1			1	
SLC30A3	0	LGGM	GRCh37	2	27481735	27481735	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	22	12	.	.	ENST00000233535.4:c.163T>A	p.Cys55Ser	p.C55S	ENST00000233535	NM_003459.4	55	Tgc/Agc	0	1	1	UPI000006D0B4	0	NA	ENST00000233535		ENSG00000115194	11014		34	0.55		HGNC	p.C50S		SLC30A3		SNV							ENST00000447008	protein_coding	getma.org/?cm=var&var=hg19,2,27481735,A,T&fts=all		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF36		C/S		T	neutral	516/2260		getma.org/?cm=msa&ty=f&p=ZNT3_HUMAN&rb=1&re=75&var=C55S	deleterious(0)	C9JM13_HUMAN,C9JHZ9_HUMAN,C9J1K4_HUMAN			YES	SLC30A3,missense_variant,p.Cys55Ser,ENST00000233535,NM_003459.4;SLC30A3,missense_variant,p.Cys50Ser,ENST00000447008,;SLC30A3,missense_variant,p.Cys42Ser,ENST00000426924,;SLC30A3,missense_variant,p.Cys44Ser,ENST00000445870,;SLC30A3,missense_variant,p.Cys6Ser,ENST00000432351,;SLC30A3,missense_variant,p.Cys33Ser,ENST00000424577,;SLC30A3,missense_variant,p.Cys6Ser,ENST00000426569,;SLC30A3,missense_variant,p.Cys6Ser,ENST00000450118,;SLC30A3,non_coding_transcript_exon_variant,,ENST00000486309,;SLC30A3,upstream_gene_variant,,ENST00000497341,;SLC30A3,upstream_gene_variant,,ENST00000482990,;							MODERATE	163/1167	C55S	ZNT3_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000233535		CCDS1743.1			1	
C4orf40	0	LGGM	GRCh37	4	71020113	71020113	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	26	12	.	.	ENST00000344526.5:c.21C>T	p.Ala7=	p.A7=	ENST00000344526	NM_214711.3	7	gcC/gcT	0	1	1	UPI0000036170	0		ENST00000344526		ENSG00000187533	33193		38			HGNC	p.A7A	rs747730648	C4orf40		SNV							ENST00000502294	protein_coding			Cleavage_site_(Signalp):SignalP-noTM		A		T		210/3127							YES	C4orf40,synonymous_variant,p.=,ENST00000344526,NM_214711.3;C4orf40,synonymous_variant,p.=,ENST00000502294,;C4orf40,non_coding_transcript_exon_variant,,ENST00000502441,;C4orf40,synonymous_variant,p.=,ENST00000509633,;C4orf40,upstream_gene_variant,,ENST00000512173,;	0.000116						LOW	21/660		CD040_HUMAN			Transcript			.	ENSP00000343172	8.24E-06	CCDS3535.1			1	
F5	0	LGGM	GRCh37	1	169511475	169511475	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	60	12	.	.	ENST00000367797.3:c.2853T>A	p.Ser951=	p.S951=	ENST00000367797	NM_000130.4	951	tcT/tcA	0	1	1	UPI0000070F01	0		ENST00000367797		ENSG00000198734	3542		72			HGNC	p.S951S		F5		SNV			1				ENST00000367797	protein_coding			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597		S		T		3055/7024				Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN			YES	F5,synonymous_variant,p.=,ENST00000367796,;F5,synonymous_variant,p.=,ENST00000367797,NM_000130.4;F5,downstream_gene_variant,,ENST00000546081,;							LOW	2853/6675		FA5_HUMAN			Transcript			.	ENSP00000356771		CCDS1281.1			1	
NLRP6	0	LGGM	GRCh37	11	278593	278593	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	12	.	.	ENST00000312165.5:c.24C>T	p.Cys8=	p.C8=	ENST00000312165	NM_001276700.1	8	tgC/tgT	0	1	1	UPI00001AEFE1	0		ENST00000312165		ENSG00000174885	22944		30			HGNC	p.C8C		NLRP6		SNV							ENST00000312165	protein_coding			PROSITE_profiles:PS50824		C		T		24/2679							YES	NLRP6,synonymous_variant,p.=,ENST00000534750,;NLRP6,synonymous_variant,p.=,ENST00000312165,NM_001276700.1,NM_138329.2;NLRP6,upstream_gene_variant,,ENST00000527946,;							LOW	24/2679		NALP6_HUMAN			Transcript			.	ENSP00000309767		CCDS7693.1			1	
NLRP6	0	LGGM	GRCh37	11	278592	278592	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	19	12	.	.	ENST00000312165.5:c.23G>A	p.Cys8Tyr	p.C8Y	ENST00000312165	NM_001276700.1	8	tGc/tAc	0	1	1	UPI00001AEFE1	0	NA	ENST00000312165		ENSG00000174885	22944		31	1.39		HGNC	p.C8Y		NLRP6		SNV							ENST00000312165	protein_coding	getma.org/?cm=var&var=hg19,11,278592,G,A&fts=all		PROSITE_profiles:PS50824		C/Y		A	low	23/2679		getma.org/?cm=msa&ty=f&p=NALP6_HUMAN&rb=1&re=103&var=C8Y	deleterious_low_confidence(0.01)				YES	NLRP6,missense_variant,p.Cys8Tyr,ENST00000534750,;NLRP6,missense_variant,p.Cys8Tyr,ENST00000312165,NM_001276700.1,NM_138329.2;NLRP6,upstream_gene_variant,,ENST00000527946,;							MODERATE	23/2679	C8Y	NALP6_HUMAN			Transcript		benign(0.064)	.	ENSP00000309767		CCDS7693.1			1	
KRT17	0	LGGM	GRCh37	17	39776954	39776954	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	38	13	.	.	ENST00000311208.8:c.1138G>A	p.Glu380Lys	p.E380K	ENST00000311208	NM_000422.2	380	Gag/Aag	0	1	1	UPI0000148FD6	0	getma.org/pdb.php?prot=K1C17_HUMAN&from=83&to=394&var=E380K	ENST00000311208		ENSG00000128422	6427		51	4.605		HGNC	p.E539K		KRT17		SNV			1				ENST00000540235	protein_coding	getma.org/?cm=var&var=hg19,17,39776954,C,T&fts=all		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF91,Superfamily_domains:SSF64593		E/K		T	high	1206/1524		getma.org/?cm=msa&ty=f&p=K1C17_HUMAN&rb=83&re=394&var=E380K	deleterious(0.01)	K7ESE1_HUMAN,B4E2P9_HUMAN			YES	JUP,missense_variant,p.Glu539Lys,ENST00000540235,;KRT17,missense_variant,p.Glu380Lys,ENST00000311208,NM_000422.2;KRT17,downstream_gene_variant,,ENST00000463128,;KRT17,downstream_gene_variant,,ENST00000577817,;KRT17,downstream_gene_variant,,ENST00000590038,;KRT16,upstream_gene_variant,,ENST00000590990,;KRT17,non_coding_transcript_exon_variant,,ENST00000493253,;KRT17,downstream_gene_variant,,ENST00000491673,;							MODERATE	1138/1299	E380K	K1C17_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000308452		CCDS11402.1			1	
LOXHD1	0	LGGM	GRCh37	18	44085945	44085945	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	26	13	.	.	ENST00000300591.6:c.2401G>A	p.Glu801Lys	p.E801K	ENST00000300591	NM_001145472.2	801	Gag/Aag	0	1	1	UPI0000456B8D	0	getma.org/pdb.php?prot=LOXH1_HUMAN&from=1609&to=1725&var=E1634K	ENST00000300591		ENSG00000167210	26521		39	2.15		HGNC	p.E151K		LOXHD1		SNV			1				ENST00000398686	protein_coding	getma.org/?cm=var&var=hg19,18,44085945,C,T&fts=all		PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723		E/K		T	medium	2815/3970		getma.org/?cm=msa&ty=f&p=LOXH1_HUMAN&rb=1609&re=1725&var=E1634K	tolerated(0.07)	C9J269_HUMAN,C9IYQ1_HUMAN			YES	LOXHD1,missense_variant,p.Glu1850Lys,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Glu1706Lys,ENST00000441551,;LOXHD1,missense_variant,p.Glu1634Lys,ENST00000398722,;LOXHD1,missense_variant,p.Glu801Lys,ENST00000300591,NM_001145472.2;LOXHD1,missense_variant,p.Glu739Lys,ENST00000582408,;LOXHD1,missense_variant,p.Glu783Lys,ENST00000441893,;LOXHD1,missense_variant,p.Glu705Lys,ENST00000579038,;LOXHD1,missense_variant,p.Glu151Lys,ENST00000398686,NM_001145473.2;LOXHD1,missense_variant,p.Glu151Lys,ENST00000398705,NM_001173129.1;LOXHD1,missense_variant,p.Glu151Lys,ENST00000414184,;LOXHD1,downstream_gene_variant,,ENST00000452425,;LOXHD1,downstream_gene_variant,,ENST00000335730,;							MODERATE	2401/3345	E1634K	LOXH1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000300591		CCDS45861.1			1	
ENDOD1	0	LGGM	GRCh37	11	94861952	94861952	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	13	.	.	ENST00000278505.4:c.712A>C	p.Lys238Gln	p.K238Q	ENST00000278505	NM_015036.2	238	Aag/Cag	0	1	1	UPI0000071599	0	getma.org/pdb.php?prot=ENDD1_HUMAN&from=62&to=288&var=K238Q	ENST00000278505		ENSG00000149218	29129		31	1.1		HGNC	p.K238Q		ENDOD1		SNV							ENST00000278505	protein_coding	getma.org/?cm=var&var=hg19,11,94861952,A,C&fts=all		hmmpanther:PTHR21472,hmmpanther:PTHR21472:SF8,SMART_domains:SM00477,SMART_domains:SM00892,Superfamily_domains:SSF54060		K/Q		C	low	830/4687		getma.org/?cm=msa&ty=f&p=ENDD1_HUMAN&rb=62&re=288&var=K238Q	tolerated(0.12)				YES	ENDOD1,missense_variant,p.Lys238Gln,ENST00000278505,NM_015036.2;							MODERATE	712/1503	K238Q	ENDD1_HUMAN			Transcript		benign(0.21)	.	ENSP00000278505		CCDS41699.1			1	
PLA2G4E	0	LGGM	GRCh37	15	42302379	42302379	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	36	13	.	.	ENST00000399518.3:c.257-2316G>A		*86*	ENST00000399518	NM_001206670.1			0	1	1	UPI0000E59BE5	0		ENST00000399518		ENSG00000188089	24791		49			HGNC	p.V23I	rs555311309	PLA2G4E		SNV				0.000511			ENST00000413860	protein_coding		T:0.0008					T		-/5266				B7WPN2_HUMAN	T:0	T:0	YES	PLA2G4E,missense_variant,p.Val23Ile,ENST00000413860,;PLA2G4E,intron_variant,,ENST00000399518,NM_001206670.1;CTD-2382E5.2,downstream_gene_variant,,ENST00000552704,;	0.00174	T:0.0002					MODIFIER	-/2607				T:0	Transcript			common_variant	ENSP00000382434	0.000166	CCDS55962.1		T:0	1	
FAM210B	0	LGGM	GRCh37	20	54941277	54941277	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	49	14	.	.	ENST00000371384.3:c.513T>C	p.Ser171=	p.S171=	ENST00000371384	NM_080821.2	171	tcT/tcC	0	1	1	UPI000003B117	0		ENST00000371384		ENSG00000124098	16102		63			HGNC	p.S171S		FAM210B		SNV							ENST00000371384	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF06916,hmmpanther:PTHR21377:SF0,hmmpanther:PTHR21377		S		C		604/3046							YES	FAM210B,synonymous_variant,p.=,ENST00000371384,NM_080821.2;AURKA,downstream_gene_variant,,ENST00000395909,NM_198433.1;AURKA,downstream_gene_variant,,ENST00000347343,NM_003600.2;AURKA,downstream_gene_variant,,ENST00000395914,NM_198434.1;AURKA,downstream_gene_variant,,ENST00000312783,NM_198436.1;AURKA,downstream_gene_variant,,ENST00000395913,;AURKA,downstream_gene_variant,,ENST00000395911,;AURKA,downstream_gene_variant,,ENST00000395915,NM_198437.1,NM_198435.1;AURKA,downstream_gene_variant,,ENST00000371356,;AURKA,downstream_gene_variant,,ENST00000395907,;							LOW	513/579		F210B_HUMAN			Transcript			.	ENSP00000360437		CCDS13450.1			1	
CLVS1	0	LGGM	GRCh37	8	62212539	62212539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	32	14	.	.	ENST00000519846.1:c.153G>T	p.Gln51His	p.Q51H	ENST00000519846		51	caG/caT	0	1		UPI000007472D	0	getma.org/pdb.php?prot=CLVS1_HUMAN&from=22&to=97&var=Q51H	ENST00000325897		ENSG00000177182	23139		46	1.815		HGNC	p.Q51H		CLVS1		SNV							ENST00000519846	protein_coding	getma.org/?cm=var&var=hg19,8,62212539,G,T&fts=all		Gene3D:3.40.525.10,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72,Superfamily_domains:SSF46938		Q/H		T	low	471/3486		getma.org/?cm=msa&ty=f&p=CLVS1_HUMAN&rb=22&re=97&var=Q51H	tolerated(0.07)	G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN				CLVS1,missense_variant,p.Gln51His,ENST00000519846,;CLVS1,missense_variant,p.Gln51His,ENST00000325897,NM_173519.2;CLVS1,missense_variant,p.Gln51His,ENST00000522621,;CLVS1,intron_variant,,ENST00000518592,;RP11-787D18.1,downstream_gene_variant,,ENST00000518064,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;CLVS1,downstream_gene_variant,,ENST00000523868,;							MODERATE	153/1065	Q51H	CLVS1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000325506		CCDS6176.1			1	
TP53	0	LGGM	GRCh37	17	7573982	7573982	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	7	14	.	.	ENST00000269305.4:c.1045G>T	p.Glu349Ter	p.E349*	ENST00000269305	NM_001126112.2	349	Gaa/Taa	0	1	1	UPI000002ED67	0	NA	ENST00000269305		ENSG00000141510	11998		21	0		HGNC	p.E349X	TP53_g.16936G>T,COSM10770,COSM140784	TP53		SNV			1			0,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7573982,C,A&fts=all		Gene3D:1olgA00,Pfam_domain:PF07710,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF47719		E/*		A	NA	1235/2579		NA		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			YES	TP53,stop_gained,p.Glu349Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Glu349Ter,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,;					0,1,1		HIGH	1045/1182	E349*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
TMEM119	0	LGGM	GRCh37	12	108985339	108985339	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	25	14	.	.	ENST00000392806.3:c.821G>T	p.Cys274Phe	p.C274F	ENST00000392806	NM_181724.2	274	tGt/tTt	0	1	1	UPI0000049333	0	NA	ENST00000392806		ENSG00000183160	27884		39	2.015		HGNC	p.C274F		TMEM119		SNV							ENST00000392806	protein_coding	getma.org/?cm=var&var=hg19,12,108985339,C,A&fts=all				C/F		A	medium	990/2707		getma.org/?cm=msa&ty=f&p=TM119_HUMAN&rb=1&re=282&var=C274F	deleterious_low_confidence(0)	F8W0W9_HUMAN,F8VZL0_HUMAN,F8VS22_HUMAN			YES	TMEM119,missense_variant,p.Cys274Phe,ENST00000392806,NM_181724.2;TMEM119,downstream_gene_variant,,ENST00000549031,;TMEM119,downstream_gene_variant,,ENST00000549447,;TMEM119,downstream_gene_variant,,ENST00000547567,;							MODERATE	821/852	C274F	TM119_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376553		CCDS9119.1			1	
KCNC2	0	LGGM	GRCh37	12	75436969	75436969	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	31	14	.	.	ENST00000549446.1:c.1833T>C	p.Ala611=	p.A611=	ENST00000549446	NM_001260497.1	611	gcT/gcC	0	1	1	UPI000004DB9B	0		ENST00000549446		ENSG00000166006	6234		45			HGNC	p.A611A		KCNC2		SNV							ENST00000549446	protein_coding					A		G		2514/5625							YES	KCNC2,synonymous_variant,p.=,ENST00000549446,NM_001260497.1,NM_139137.3;KCNC2,synonymous_variant,p.=,ENST00000540018,;KCNC2,intron_variant,,ENST00000298972,NM_139136.3;KCNC2,intron_variant,,ENST00000341669,NM_001260498.1;KCNC2,intron_variant,,ENST00000350228,NM_001260499.1,NM_153748.2;KCNC2,intron_variant,,ENST00000548513,;KCNC2,intron_variant,,ENST00000550433,;KCNC2,downstream_gene_variant,,ENST00000393288,;RP11-81K13.1,non_coding_transcript_exon_variant,,ENST00000547040,;RP11-81K13.1,intron_variant,,ENST00000550049,;RP11-81K13.1,downstream_gene_variant,,ENST00000549762,;							LOW	1833/1917		KCNC2_HUMAN			Transcript			.	ENSP00000449253		CCDS9007.1			1	
SKIC3	0	LGGM	GRCh37	5	94859540	94859540	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	28	15	.	.	ENST00000358746.2:c.1453-2A>G		p.X485_splice	ENST00000358746	NM_014639.3			0	1	1	UPI00000709BD	0		ENST00000358746		ENSG00000198677	23639		43			HGNC	-		TTC37		SNV			1				ENST00000358746	protein_coding							C		-/5706				D6RDA0_HUMAN			YES	TTC37,splice_acceptor_variant,,ENST00000358746,NM_014639.3;TTC37,splice_acceptor_variant,,ENST00000514952,;RNU6-308P,downstream_gene_variant,,ENST00000390957,;TTC37,downstream_gene_variant,,ENST00000504421,;TTC37,splice_acceptor_variant,,ENST00000513232,;TTC37,intron_variant,,ENST00000505578,;TTC37,upstream_gene_variant,,ENST00000507805,;TTC37,downstream_gene_variant,,ENST00000503279,;							HIGH	1453/4695		TTC37_HUMAN			Transcript			.	ENSP00000351596		CCDS4072.1			1	
ZNF333	0	LGGM	GRCh37	19	14829958	14829958	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	60	15	.	.	ENST00000292530.6:c.1819G>C	p.Val607Leu	p.V607L	ENST00000292530	NM_032433.2	607	Gta/Cta	0	1	1	UPI000013C35C	0	getma.org/pdb.php?prot=ZN333_HUMAN&from=602&to=617&var=V607L	ENST00000292530		ENSG00000160961	15624		75	0.385		HGNC	p.V498L		ZNF333		SNV							ENST00000536363	protein_coding	getma.org/?cm=var&var=hg19,19,14829958,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF183,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/L		C	neutral	1910/4672		getma.org/?cm=msa&ty=f&p=ZN333_HUMAN&rb=572&re=647&var=V607L	tolerated(0.23)	B3KT80_HUMAN,B3KSN8_HUMAN			YES	ZNF333,missense_variant,p.Val607Leu,ENST00000292530,NM_032433.2;ZNF333,missense_variant,p.Val498Leu,ENST00000536363,;ZNF333,intron_variant,,ENST00000540689,;AC090427.1,upstream_gene_variant,,ENST00000596056,;ZNF333,3_prime_UTR_variant,,ENST00000598161,;ZNF333,downstream_gene_variant,,ENST00000597301,;ZNF333,downstream_gene_variant,,ENST00000597007,;							MODERATE	1819/1998	V607L	ZN333_HUMAN			Transcript		benign(0.009)	.	ENSP00000292530		CCDS12316.1			1	
SMG1	0	LGGM	GRCh37	16	18830896	18830896	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	86	15	.	.	ENST00000446231.2:c.9822A>G	p.Val3274=	p.V3274=	ENST00000446231		3274	gtA/gtG	0	1	1	UPI00004F8E22	0		ENST00000446231		ENSG00000157106	30045		101			HGNC	p.V3274V		SMG1		SNV							ENST00000446231	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		V		C		10235/16115				H3BPS6_HUMAN			YES	SMG1,synonymous_variant,p.=,ENST00000446231,;SMG1,synonymous_variant,p.=,ENST00000389467,NM_015092.4;SMG1,synonymous_variant,p.=,ENST00000565324,;SMG1,upstream_gene_variant,,ENST00000561940,;							LOW	9822/10986		SMG1_HUMAN			Transcript			.	ENSP00000402515		CCDS45430.1			1	
C16orf46	0	LGGM	GRCh37	16	81094929	81094929	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	27	15	.	.	ENST00000299578.5:c.1025A>G	p.Lys342Arg	p.K342R	ENST00000299578	NM_152337.2	342	aAg/aGg	0	1	1	UPI000013E5BE	0	NA	ENST00000299578		ENSG00000166455	26525		42	0.55		HGNC	p.K342R		C16orf46		SNV							ENST00000299578	protein_coding	getma.org/?cm=var&var=hg19,16,81094929,T,C&fts=all		Pfam_domain:PF15032		K/R		C	neutral	1261/1598		getma.org/?cm=msa&ty=f&p=CP046_HUMAN&rb=238&re=349&var=K342R	tolerated(1)	H3BQQ0_HUMAN,B4DI50_HUMAN			YES	C16orf46,missense_variant,p.Lys342Arg,ENST00000378611,NM_001100873.1;C16orf46,missense_variant,p.Lys342Arg,ENST00000299578,NM_152337.2;C16orf46,downstream_gene_variant,,ENST00000565253,;RP11-303E16.5,downstream_gene_variant,,ENST00000562450,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,downstream_gene_variant,,ENST00000444657,;							MODERATE	1025/1188	K342R	CP046_HUMAN			Transcript		benign(0.145)	.	ENSP00000299578		CCDS10932.1			1	
ZNF157	0	LGGM	GRCh37	X	47271806	47271806	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	27	16	.	.	ENST00000377073.3:c.334G>A	p.Asp112Asn	p.D112N	ENST00000377073	NM_003446.3	112	Gat/Aat	0	1	1	UPI00001AE9ED	0	NA	ENST00000377073		ENSG00000147117	12942		43	0.71		HGNC	p.D112N		ZNF157		SNV							ENST00000377073	protein_coding	getma.org/?cm=var&var=hg19,X,47271806,G,A&fts=all		hmmpanther:PTHR24377:SF34,hmmpanther:PTHR24377		D/N		A	neutral	420/2318		getma.org/?cm=msa&ty=f&p=ZN157_HUMAN&rb=68&re=175&var=D112N	tolerated(0.42)				YES	ZNF157,missense_variant,p.Asp112Asn,ENST00000377073,NM_003446.3;							MODERATE	334/1521	D112N	ZN157_HUMAN			Transcript		benign(0.01)	.	ENSP00000366273		CCDS14278.1			1	
CPS1	0	LGGM	GRCh37	2	211454872	211454872	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	58	16	.	.	ENST00000430249.2:c.772A>C	p.Thr258Pro	p.T258P	ENST00000430249	NM_001122633.2	258	Acc/Ccc	0	1		UPI000000D7EC	0	getma.org/pdb.php?prot=CPSM_HUMAN&from=221&to=397&var=T252P	ENST00000233072		ENSG00000021826	2323		74	1.34		HGNC	p.T252P		CPS1		SNV			1				ENST00000233072	protein_coding	getma.org/?cm=var&var=hg19,2,211454872,A,C&fts=all		Gene3D:3.40.50.880,HAMAP:MF_01209,Pfam_domain:PF00117,PROSITE_profiles:PS51273,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF52317,TIGRFAM_domain:TIGR01368		T/P		C	low	950/5821		getma.org/?cm=msa&ty=f&p=CPSM_HUMAN&rb=221&re=397&var=T252P	tolerated(0.25)	Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN				CPS1,missense_variant,p.Thr252Pro,ENST00000233072,NM_001875.4;CPS1,missense_variant,p.Thr258Pro,ENST00000430249,NM_001122633.2;CPS1,upstream_gene_variant,,ENST00000451903,NM_001122634.2;							MODERATE	754/4503	T252P	CPSM_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000233072		CCDS2393.1			1	
MB21D1	0	LGGM	GRCh37	6	74150056	74150056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	16	.	.	ENST00000370315.3:c.990G>T	p.Trp330Cys	p.W330C	ENST00000370315	NM_138441.2	330	tgG/tgT	0	1	1	UPI00001AEC2D	0	NA	ENST00000370315		ENSG00000164430	21367		53	2.585		HGNC	p.W330C		MB21D1		SNV							ENST00000370315	protein_coding	getma.org/?cm=var&var=hg19,6,74150056,C,A&fts=all		Pfam_domain:PF03281,hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF35		W/C		A	medium	1085/3182		getma.org/?cm=msa&ty=f&p=M21D1_HUMAN&rb=213&re=513&var=W330C	deleterious(0.01)	A6PW79_HUMAN			YES	MB21D1,missense_variant,p.Trp330Cys,ENST00000370315,NM_138441.2;MB21D1,missense_variant,p.Trp330Cys,ENST00000370318,;MB21D1,non_coding_transcript_exon_variant,,ENST00000459924,;							MODERATE	990/1569	W330C	CGAS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359339		CCDS4978.1			1	
OR10A7	0	LGGM	GRCh37	12	55615138	55615138	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	65	16	.	.	ENST00000326258.1:c.330T>A	p.Ser110=	p.S110=	ENST00000326258	NM_001005280.1	110	tcT/tcA	0	1	1	UPI0000041E35	0		ENST00000326258		ENSG00000179919	15329		81			HGNC	p.S110S		OR10A7		SNV							ENST00000326258	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF22,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S		A		330/951							YES	OR10A7,synonymous_variant,p.=,ENST00000326258,NM_001005280.1;							LOW	330/951		O10A7_HUMAN			Transcript			.	ENSP00000326718		CCDS31815.1			1	
NOC3L	0	LGGM	GRCh37	10	96094446	96094446	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	47	16	.	.	ENST00000371361.3:c.2219G>A	p.Ser740Asn	p.S740N	ENST00000371361	NM_022451.9	740	aGc/aAc	0	1	1	UPI000006DE09	0	NA	ENST00000371361		ENSG00000173145	24034		63	0.63		HGNC	p.S478N		NOC3L		SNV							ENST00000543788	protein_coding	getma.org/?cm=var&var=hg19,10,96094446,C,T&fts=all		PIRSF_domain:PIRSF028977,hmmpanther:PTHR14428:SF5,hmmpanther:PTHR14428		S/N		T	neutral	2320/3455		getma.org/?cm=msa&ty=f&p=NOC3L_HUMAN&rb=710&re=800&var=S740N	tolerated(0.35)				YES	NOC3L,missense_variant,p.Ser740Asn,ENST00000371361,NM_022451.9;NOC3L,missense_variant,p.Ser740Asn,ENST00000371350,;NOC3L,missense_variant,p.Ser478Asn,ENST00000543788,;PLCE1,downstream_gene_variant,,ENST00000371380,;							MODERATE	2219/2403	S740N	NOC3L_HUMAN			Transcript		benign(0.008)	.	ENSP00000360412		CCDS7433.1			1	
SLC4A8	0	LGGM	GRCh37	12	51847363	51847363	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	32	17	.	.	ENST00000453097.2:c.454C>T	p.Arg152Cys	p.R152C	ENST00000453097	NM_001039960.2	152	Cgc/Tgc	0	1	1	UPI00005E6FB4	0	NA	ENST00000453097		ENSG00000050438	11034		49	3.66		HGNC	p.R99C	COSM3781004,COSM3781005,COSM3781006,COSM3781003	SLC4A8		SNV						1,1,1,1	ENST00000535225	protein_coding	getma.org/?cm=var&var=hg19,12,51847363,C,T&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,TIGRFAM_domain:TIGR00834,Pfam_domain:PF07565,Gene3D:1hynR00,Superfamily_domains:SSF55804,Prints_domain:PR01232		R/C		T	high	671/4395		getma.org/?cm=msa&ty=f&p=S4A8_HUMAN&rb=145&re=404&var=R152C	deleterious(0)				YES	SLC4A8,missense_variant,p.Arg152Cys,ENST00000453097,NM_001039960.2,NM_001258401.2;SLC4A8,missense_variant,p.Arg179Cys,ENST00000358657,;SLC4A8,missense_variant,p.Arg99Cys,ENST00000514353,NM_001258403.1;SLC4A8,missense_variant,p.Arg99Cys,ENST00000394856,;SLC4A8,missense_variant,p.Arg99Cys,ENST00000535225,NM_001258402.1,NM_001267615.1;SLC4A8,non_coding_transcript_exon_variant,,ENST00000548352,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000547697,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000552001,;					1,1,1,1		MODERATE	454/3282	R152C	S4A8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000405812		CCDS44890.1			1	
OR13D1	0	LGGM	GRCh37	9	107456754	107456754	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	33	17	.	.	ENST00000318763.5:c.52C>T	p.His18Tyr	p.H18Y	ENST00000318763	NM_001004484.1	18	Cat/Tat	0	1	1	UPI0000061E68	0	NA	ENST00000318763		ENSG00000179055	14695		50	0		HGNC	p.H18Y		OR13D1		SNV							ENST00000318763	protein_coding	getma.org/?cm=var&var=hg19,9,107456754,C,T&fts=all				H/Y		T	neutral	95/1107		getma.org/?cm=msa&ty=f&p=O13D1_HUMAN&rb=1&re=170&var=H18Y	deleterious_low_confidence(0.01)				YES	OR13D1,missense_variant,p.His18Tyr,ENST00000318763,NM_001004484.1;							MODERATE	52/1041	H18Y	O13D1_HUMAN			Transcript		benign(0.009)	.	ENSP00000317357		CCDS35094.1			1	
PSG9	0	LGGM	GRCh37	19	43762526	43762526	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	96	18	.	.	ENST00000270077.3:c.1071A>T	p.Glu357Asp	p.E357D	ENST00000270077	NM_002784.3	357	gaA/gaT	0	1	1	UPI00001327A5	0	getma.org/pdb.php?prot=PSG9_HUMAN&from=334&to=413&var=E357D	ENST00000270077		ENSG00000183668	9526		114	-0.78		HGNC	p.E171D		PSG9		SNV							ENST00000596730	protein_coding	getma.org/?cm=var&var=hg19,19,43762526,T,A&fts=all		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		E/D		A	neutral	1168/1705		getma.org/?cm=msa&ty=f&p=PSG9_HUMAN&rb=334&re=413&var=E357D	tolerated(1)	Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN			YES	PSG9,missense_variant,p.Glu264Asp,ENST00000244293,;PSG9,missense_variant,p.Glu171Asp,ENST00000596730,;PSG9,missense_variant,p.Glu264Asp,ENST00000418820,;PSG9,missense_variant,p.Glu357Asp,ENST00000270077,NM_002784.3;PSG9,missense_variant,p.Glu264Asp,ENST00000593948,;PSG9,missense_variant,p.Glu264Asp,ENST00000443718,;PSG9,missense_variant,p.Glu171Asp,ENST00000291752,;PSG9,non_coding_transcript_exon_variant,,ENST00000595404,;							MODERATE	1071/1281	E357D	PSG9_HUMAN			Transcript		benign(0.001)	.	ENSP00000270077		CCDS12618.1			1	
SCNN1G	0	LGGM	GRCh37	16	23226610	23226610	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	37	20	.	.	ENST00000300061.2:c.1770C>A	p.Gly590=	p.G590=	ENST00000300061	NM_001039.3	590	ggC/ggA	0	1	1	UPI0000070D86	0		ENST00000300061		ENSG00000166828	10602		57			HGNC	p.G590G		SCNN1G		SNV			1				ENST00000300061	protein_coding			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF19,TIGRFAM_domain:TIGR00859		G		A		1913/3507				Q6LCK5_HUMAN,A5X2V1_HUMAN			YES	SCNN1G,synonymous_variant,p.=,ENST00000300061,NM_001039.3;CTC-391G2.1,upstream_gene_variant,,ENST00000563471,;							LOW	1770/1950		SCNNG_HUMAN			Transcript			.	ENSP00000300061		CCDS10608.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H080750	H080750N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	162	70	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			232		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
ERO1L	0	LGGM	GRCh37	14	53149113	53149113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	60	22	.	.	ENST00000395686.3:c.248G>T	p.Arg83Met	p.R83M	ENST00000395686	NM_014584.1	83	aGg/aTg	0	1	1	UPI000004BA63	0	getma.org/pdb.php?prot=ERO1A_HUMAN&from=59&to=458&var=R83M	ENST00000395686		ENSG00000197930	13280		82	2.69		HGNC	p.R83M		ERO1L		SNV							ENST00000395686	protein_coding	getma.org/?cm=var&var=hg19,14,53149113,C,A&fts=all		Superfamily_domains:0043331,PIRSF_domain:PIRSF017205,Pfam_domain:PF04137,hmmpanther:PTHR12613,hmmpanther:PTHR12613:SF1		R/M		A	medium	472/5285		getma.org/?cm=msa&ty=f&p=ERO1A_HUMAN&rb=59&re=458&var=R83M	deleterious(0)	G3V2H0_HUMAN			YES	ERO1L,missense_variant,p.Arg83Met,ENST00000395686,NM_014584.1;ERO1L,missense_variant,p.Arg43Met,ENST00000554251,;ERO1L,missense_variant,p.Arg83Met,ENST00000554019,;ERO1L,missense_variant,p.Arg83Met,ENST00000556039,;ERO1L,missense_variant,p.Arg83Met,ENST00000556223,;							MODERATE	248/1407	R83M	ERO1A_HUMAN			Transcript		possibly_damaging(0.744)	.	ENSP00000379042		CCDS9709.1			1	
PRKDC	0	LGGM	GRCh37	8	48706851	48706851	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	40	22	.	.	ENST00000314191.2:c.10667G>T	p.Arg3556Met	p.R3556M	ENST00000314191	NM_006904.6	3556	aGg/aTg	0	1	1	UPI000045790C	0	NA	ENST00000314191		ENSG00000253729	9413		62	2.255		HGNC	p.R3556M		PRKDC		SNV			1				ENST00000314191	protein_coding	getma.org/?cm=var&var=hg19,8,48706851,C,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54		R/M		A	medium	10724/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=3471&re=3670&var=R3557M		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Arg3556Met,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Arg3556Met,ENST00000338368,NM_001081640.1;PRKDC,splice_region_variant,,ENST00000523565,;PRKDC,splice_region_variant,,ENST00000518216,;							MODERATE	10667/12384	R3557M	PRKDC_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000313420					1	
PDZRN3	0	LGGM	GRCh37	3	73433818	73433818	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	18	23	.	.	ENST00000263666.4:c.1899C>T	p.Ala633=	p.A633=	ENST00000263666	NM_015009.1	633	gcC/gcT	0	1	1	UPI00001C1DE6	0		ENST00000263666		ENSG00000121440	17704		41			HGNC	p.A350A	rs749752976	PDZRN3		SNV							ENST00000479530	protein_coding			hmmpanther:PTHR15545:SF5,hmmpanther:PTHR15545		A		A		2014/4248	0.000181			E7ENB6_HUMAN			YES	PDZRN3,synonymous_variant,p.=,ENST00000263666,NM_015009.1;PDZRN3,synonymous_variant,p.=,ENST00000462146,;PDZRN3,synonymous_variant,p.=,ENST00000535920,;PDZRN3,synonymous_variant,p.=,ENST00000479530,;PDZRN3,synonymous_variant,p.=,ENST00000466780,;PDZRN3,synonymous_variant,p.=,ENST00000494559,;PDZRN3,synonymous_variant,p.=,ENST00000492909,;PDZRN3,downstream_gene_variant,,ENST00000466348,;PDZRN3,non_coding_transcript_exon_variant,,ENST00000478209,;PDZRN3,downstream_gene_variant,,ENST00000484487,;							LOW	1899/3201		PZRN3_HUMAN			Transcript			.	ENSP00000263666	9.88E-05	CCDS33789.1			1	
HTN3	0	LGGM	GRCh37	4	70897807	70897807	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	32	23	.	.	ENST00000530128.1:c.85T>C	p.Tyr29His	p.Y29H	ENST00000530128		29	Tat/Cat	0	1		UPI000012C7A2	0		ENST00000526767		ENSG00000205649	5284		55			HGNC	p.Y29H		HTN3		SNV							ENST00000530128	protein_coding			hmmpanther:PTHR15057,hmmpanther:PTHR15057:SF1		Y/H		C		202/578			tolerated_low_confidence(0.61)					HTN3,missense_variant,p.Tyr29His,ENST00000530128,;HTN3,missense_variant,p.Tyr29His,ENST00000526767,NM_000200.2;HTN3,intron_variant,,ENST00000381057,;HTN3,non_coding_transcript_exon_variant,,ENST00000529625,;HTN3,non_coding_transcript_exon_variant,,ENST00000533547,;HTN3,downstream_gene_variant,,ENST00000528003,;							MODERATE	85/156		HIS3_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000437158		CCDS33999.1			1	
MAST4	0	LGGM	GRCh37	5	66440525	66440525	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	70	26	.	.	ENST00000403625.2:c.2759A>C	p.Gln920Pro	p.Q920P	ENST00000403625	NM_001164664.1	920	cAg/cCg	0	1	1	UPI000173A2B0	0	NA	ENST00000403625		ENSG00000069020	19037		96	1.445		HGNC	p.Q923P		MAST4		SNV							ENST00000404260	protein_coding	getma.org/?cm=var&var=hg19,5,66440525,A,C&fts=all		hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139		Q/P		C	low	3054/10711		getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=847&re=1046&var=Q923P		J3QT34_HUMAN			YES	MAST4,missense_variant,p.Gln923Pro,ENST00000404260,;MAST4,missense_variant,p.Gln920Pro,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Gln741Pro,ENST00000405643,;MAST4,missense_variant,p.Gln726Pro,ENST00000261569,;MAST4,missense_variant,p.Gln731Pro,ENST00000403666,NM_015183.2;MAST4,missense_variant,p.Gln44Pro,ENST00000443808,;MAST4,downstream_gene_variant,,ENST00000485768,;							MODERATE	2759/7872	Q923P				Transcript		benign(0.01)	.	ENSP00000385727		CCDS54861.1			1	
HERC2	0	LGGM	GRCh37	15	28463680	28463680	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	61	32	.	.	ENST00000261609.7:c.5983G>T	p.Gly1995Ter	p.G1995*	ENST00000261609	NM_004667.5	1995	Gga/Tga	0	1	1	UPI00004578F7	0	NA	ENST00000261609		ENSG00000128731	4868		93	0		HGNC	p.G1995X		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28463680,C,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		G/*		A	NA	6092/15337		NA					YES	HERC2,stop_gained,p.Gly1995Ter,ENST00000261609,NM_004667.5;HERC2,downstream_gene_variant,,ENST00000569335,;							HIGH	5983/14505	G1995*	HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
MEA1	0	LGGM	GRCh37	6	42980990	42980990	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	35	34	.	.	ENST00000244711.3:c.166G>A	p.Glu56Lys	p.E56K	ENST00000244711	NM_014623.2	56	Gaa/Aaa	0	1	1	UPI000007291B	0	NA	ENST00000244711		ENSG00000124733	6986		69	0.805		HGNC	p.E56K	COSM3830558	MEA1		SNV						1	ENST00000244711	protein_coding	getma.org/?cm=var&var=hg19,6,42980990,C,T&fts=all		Pfam_domain:PF06910,hmmpanther:PTHR17005,hmmpanther:PTHR17005:SF2,Low_complexity_(Seg):seg		E/K		T	low	321/1089		getma.org/?cm=msa&ty=f&p=MEA1_HUMAN&rb=14&re=185&var=E56K	tolerated(0.08)				YES	MEA1,missense_variant,p.Glu56Lys,ENST00000244711,NM_014623.2;PPP2R5D,downstream_gene_variant,,ENST00000485511,NM_001270476.1,NM_006245.3;PPP2R5D,downstream_gene_variant,,ENST00000472118,;PPP2R5D,downstream_gene_variant,,ENST00000394110,NM_180976.2;PPP2R5D,downstream_gene_variant,,ENST00000470467,;KLHDC3,upstream_gene_variant,,ENST00000326974,NM_057161.3;KLHDC3,upstream_gene_variant,,ENST00000244670,;KLHDC3,upstream_gene_variant,,ENST00000332245,;PPP2R5D,downstream_gene_variant,,ENST00000461010,NM_180977.2;PPP2R5D,downstream_gene_variant,,ENST00000486843,;PPP2R5D,downstream_gene_variant,,ENST00000230402,;PPP2R5D,downstream_gene_variant,,ENST00000482315,;					1		MODERATE	166/558	E56K	MEA1_HUMAN			Transcript		benign(0.038)	.	ENSP00000244711		CCDS4879.1			1	
DLC1	0	LGGM	GRCh37	8	12948916	12948916	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	72	36	.	.	ENST00000276297.4:c.3766G>A	p.Gly1256Ser	p.G1256S	ENST00000276297	NM_182643.2	1256	Ggc/Agc	0	1	1	UPI0000210275	0	getma.org/pdb.php?prot=RHG07_HUMAN&from=1078&to=1284&var=G1256S	ENST00000276297		ENSG00000164741	2897	8.64E-05	108	2.655		HGNC	p.G853S	rs777276577	DLC1		SNV							ENST00000512044	protein_coding	getma.org/?cm=var&var=hg19,8,12948916,C,T&fts=all		Gene3D:1.10.555.10,PROSITE_profiles:PS50238,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2,SMART_domains:SM00324,Superfamily_domains:SSF48350		G/S		T	medium	4176/7447		getma.org/?cm=msa&ty=f&p=RHG07_HUMAN&rb=1078&re=1284&var=G1256S	deleterious(0.01)				YES	DLC1,missense_variant,p.Gly1256Ser,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Gly819Ser,ENST00000358919,NM_006094.4;DLC1,missense_variant,p.Gly853Ser,ENST00000512044,;DLC1,missense_variant,p.Gly745Ser,ENST00000520226,NM_001164271.1;DLC1,non_coding_transcript_exon_variant,,ENST00000510318,;DLC1,downstream_gene_variant,,ENST00000513883,;DLC1,downstream_gene_variant,,ENST00000510250,;DLC1,upstream_gene_variant,,ENST00000521730,;							MODERATE	3766/4587	G1256S	RHG07_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276297	8.24E-06	CCDS5989.1			1	
ITGA1	0	LGGM	GRCh37	5	52233336	52233336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	88	37	.	.	ENST00000282588.6:c.3070T>C	p.Ser1024Pro	p.S1024P	ENST00000282588	NM_181501.1	1024	Tct/Cct	0	1	1	UPI00001A95E8	0	getma.org/pdb.php?prot=ITA1_HUMAN&from=664&to=1074&var=S1024P	ENST00000282588		ENSG00000213949	6134		125	0.69		HGNC	p.S1024P		ITGA1		SNV							ENST00000282588	protein_coding	getma.org/?cm=var&var=hg19,5,52233336,T,C&fts=all		hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Pfam_domain:PF08441,Gene3D:1jv2A04,Superfamily_domains:SSF69179		S/P		C	neutral	3528/10757		getma.org/?cm=msa&ty=f&p=ITA1_HUMAN&rb=664&re=1074&var=S1024P	tolerated(0.13)				YES	ITGA1,missense_variant,p.Ser1024Pro,ENST00000282588,NM_181501.1;CTD-2175A23.1,intron_variant,,ENST00000505701,;CTD-2175A23.1,intron_variant,,ENST00000503559,;ITGA1,non_coding_transcript_exon_variant,,ENST00000506275,;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;							MODERATE	3070/3540	S1024P	ITA1_HUMAN			Transcript		benign(0.049)	.	ENSP00000282588		CCDS3955.1			1	
OR2A12	0	LGGM	GRCh37	7	143792344	143792344	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	40	37	.	.	ENST00000408949.2:c.144C>G	p.Ile48Met	p.I48M	ENST00000408949	NM_001004135.1	48	atC/atG	0	1	1	UPI0000061E6F	0	getma.org/pdb.php?prot=O2A12_HUMAN&from=1&to=137&var=I48M	ENST00000408949		ENSG00000221858	15082		77	2.875		HGNC	p.I48M		OR2A12		SNV							ENST00000408949	protein_coding	getma.org/?cm=var&var=hg19,7,143792344,C,G&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF50,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		I/M		G	medium	204/1046		getma.org/?cm=msa&ty=f&p=O2A12_HUMAN&rb=1&re=137&var=I48M	deleterious(0.01)	A4D2G4_HUMAN			YES	OR2A12,missense_variant,p.Ile48Met,ENST00000408949,NM_001004135.1;							MODERATE	144/933	I48M	O2A12_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000386174		CCDS43670.1			1	
SPEF2	0	LGGM	GRCh37	5	35649526	35649526	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	80	37	.	.	ENST00000356031.3:c.790A>G	p.Ser264Gly	p.S264G	ENST00000356031	NM_024867.3	264	Agt/Ggt	0	1	1	UPI0001505B9F	0	NA	ENST00000356031		ENSG00000152582	26293		117	1.7		HGNC	p.S264G		SPEF2		SNV							ENST00000356031	protein_coding	getma.org/?cm=var&var=hg19,5,35649526,A,G&fts=all		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0		S/G		G	low	944/5681		getma.org/?cm=msa&ty=f&p=SPEF2_HUMAN&rb=164&re=363&var=S264G	tolerated(0.1)				YES	SPEF2,missense_variant,p.Ser264Gly,ENST00000440995,;SPEF2,missense_variant,p.Ser264Gly,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Ser264Gly,ENST00000509059,;SPEF2,missense_variant,p.Ser264Gly,ENST00000282469,NM_144722.3;SPEF2,missense_variant,p.Ser207Gly,ENST00000510777,;SPEF2,splice_region_variant,,ENST00000502454,;							MODERATE	790/5469	S264G	SPEF2_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000348314		CCDS43309.1			1	
PRR23E	0	LGGM	GRCh37	3	126915849	126915849	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	75	38	.	.	ENST00000398112.1:c.321C>A	p.Gly107=	p.G107=	ENST00000398112	NM_001007534.2	107	ggC/ggA	0	1	1	UPI000006D9A8	0		ENST00000398112		ENSG00000214324	32481		113			HGNC	p.G107G		C3orf56		SNV							ENST00000398112	protein_coding			hmmpanther:PTHR31813,hmmpanther:PTHR31813:SF5		G		A		561/1737							YES	C3orf56,synonymous_variant,p.=,ENST00000398112,NM_001007534.2;							LOW	321/729		CC056_HUMAN			Transcript			.	ENSP00000381182		CCDS63757.1			1	
ALS2CR11	0	LGGM	GRCh37	2	202466516	202466516	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	29	39	.	.	ENST00000439140.1:c.462C>T	p.Asn154=	p.N154=	ENST00000439140	NM_001168221.1	154	aaC/aaT	0	1		UPI000013DE33	0		ENST00000286195		ENSG00000155754	14438		68			HGNC	p.N154N	rs369386634,COSM1014920,COSM1591714,COSM1591715	ALS2CR11	6.13E-05	SNV	A:0			9.83E-05		0,1,1,1	ENST00000439802	protein_coding			hmmpanther:PTHR21665,hmmpanther:PTHR21665:SF2,Superfamily_domains:SSF49562		N	A:0.0001	A		507/2104	1.53E-05							ALS2CR11,synonymous_variant,p.=,ENST00000439140,NM_001168221.1;ALS2CR11,synonymous_variant,p.=,ENST00000450242,NM_001168217.1;ALS2CR11,synonymous_variant,p.=,ENST00000286195,NM_152525.5;ALS2CR11,synonymous_variant,p.=,ENST00000439802,NM_001168216.1;	0.000116				0,1,1,1		LOW	462/1872		AL2SA_HUMAN			Transcript			.	ENSP00000286195	3.30E-05	CCDS2349.1			1	
HOOK2	0	LGGM	GRCh37	19	12876509	12876509	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080750	H080750N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	54	39	.	.	ENST00000397668.3:c.1635A>G	p.Glu545=	p.E545=	ENST00000397668	NM_013312.2	545	gaA/gaG	0	1	1	UPI00003D0BC0	0		ENST00000397668		ENSG00000095066	19885		93			HGNC	p.E543E		HOOK2		SNV							ENST00000264827	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947		E		C		1709/2513				K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN			YES	HOOK2,synonymous_variant,p.=,ENST00000264827,NM_001100176.1;HOOK2,synonymous_variant,p.=,ENST00000397668,NM_013312.2;HOOK2,downstream_gene_variant,,ENST00000589400,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,3_prime_UTR_variant,,ENST00000586188,;HOOK2,non_coding_transcript_exon_variant,,ENST00000592259,;HOOK2,non_coding_transcript_exon_variant,,ENST00000591839,;HOOK2,downstream_gene_variant,,ENST00000589398,;HOOK2,upstream_gene_variant,,ENST00000586710,;HOOK2,upstream_gene_variant,,ENST00000589915,;							LOW	1635/2160		HOOK2_HUMAN			Transcript			.	ENSP00000380785		CCDS42508.1			1	
ANKEF1	0	LGGM	GRCh37	20	10033807	10033807	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	84	40	.	.	ENST00000378380.3:c.1918A>C	p.Ile640Leu	p.I640L	ENST00000378380	NM_198798.1	640	Att/Ctt	0	1	1	UPI0000125B51	0	NA	ENST00000378380		ENSG00000132623	15803		124	1.2		HGNC	p.I640L		ANKEF1		SNV							ENST00000378380	protein_coding	getma.org/?cm=var&var=hg19,20,10033807,A,C&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24127,hmmpanther:PTHR24127:SF1,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		I/L		C	low	2247/3762		getma.org/?cm=msa&ty=f&p=ANKR5_HUMAN&rb=589&re=776&var=I640L	tolerated(0.06)				YES	ANKEF1,missense_variant,p.Ile640Leu,ENST00000378380,NM_198798.1;ANKEF1,missense_variant,p.Ile640Leu,ENST00000378392,NM_022096.4;AL109754.1,upstream_gene_variant,,ENST00000408554,;SNAP25-AS1,intron_variant,,ENST00000603542,;SNAP25-AS1,intron_variant,,ENST00000421143,;ANKEF1,non_coding_transcript_exon_variant,,ENST00000488991,;							MODERATE	1918/2331	I640L	ANKE1_HUMAN			Transcript		benign(0.063)	.	ENSP00000367631		CCDS13108.1			1	
CSMD3	0	LGGM	GRCh37	8	113702199	113702199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	97	40	.	.	ENST00000297405.5:c.2053G>T	p.Val685Phe	p.V685F	ENST00000297405	NM_198123.1	685	Gtt/Ttt	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=664&to=717&var=V685F	ENST00000297405		ENSG00000164796	19291		137	2.695		HGNC	p.V581F		CSMD3		SNV							ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113702199,C,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535		V/F		A	medium	2298/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=664&re=717&var=V685F	deleterious(0.02)				YES	CSMD3,missense_variant,p.Val685Phe,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Val645Phe,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Val685Phe,ENST00000352409,;CSMD3,missense_variant,p.Val581Phe,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Val25Phe,ENST00000339701,;							MODERATE	2053/11124	V685F	CSMD3_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000297405		CCDS6315.1			1	
DNAH14	0	LGGM	GRCh37	1	225495217	225495217	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	T	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	50	42	.	.	ENST00000327794.6:c.2173A>T	p.Thr725=	p.T725=	ENST00000327794		725	acA/acT	0	1		UPI0001642868	0		ENST00000445597		ENSG00000185842	2945		92			HGNC	p.T2274T		DNAH14		SNV							ENST00000445597	protein_coding			Pfam_domain:PF12777,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676		T		T		6822/10524				C9JU64_HUMAN				DNAH14,synonymous_variant,p.=,ENST00000430092,NM_001373.1;DNAH14,synonymous_variant,p.=,ENST00000439375,;DNAH14,synonymous_variant,p.=,ENST00000445597,;DNAH14,synonymous_variant,p.=,ENST00000327794,;							LOW	6822/10524		DYH14_HUMAN			Transcript			.	ENSP00000409472					1	
TDRD15	0	LGGM	GRCh37	2	21360810	21360810	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080750	H080750N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	93	42	.	.	ENST00000405799.1:c.471A>T	p.Gln157His	p.Q157H	ENST00000405799		157	caA/caT	0	1	1	UPI000173A3F5	0		ENST00000405799		ENSG00000218819	45037		135			HGNC	p.Q157H		TDRD15		SNV							ENST00000405799	protein_coding			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF2		Q/H		T		801/6135			deleterious(0)				YES	TDRD15,missense_variant,p.Gln157His,ENST00000405799,;							MODERATE	471/5805		TDR15_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000384376					1	
TRABD2A	0	LGGM	GRCh37	2	85097457	85097457	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	175	51	.	.	ENST00000335459.5:c.561C>G	p.Val187=	p.V187=	ENST00000335459	NM_001080824.2	187	gtC/gtG	0	1		UPI000016012F	0		ENST00000409520		ENSG00000186854	27013		226			HGNC	p.V187V		TRABD2A		SNV							ENST00000335459	protein_coding			hmmpanther:PTHR31120:SF4,hmmpanther:PTHR31120,Pfam_domain:PF01963		V		C		604/1809								TRABD2A,synonymous_variant,p.=,ENST00000335459,NM_001080824.2;TRABD2A,synonymous_variant,p.=,ENST00000409520,NM_001277053.1;TRABD2A,synonymous_variant,p.=,ENST00000409133,;TRABD2A,non_coding_transcript_exon_variant,,ENST00000436322,;TRABD2A,downstream_gene_variant,,ENST00000474298,;RPL12P18,upstream_gene_variant,,ENST00000437175,;							LOW	561/1518		TIKI1_HUMAN			Transcript			.	ENSP00000387075		CCDS62946.1			1	
ADCY8	0	LGGM	GRCh37	8	131896870	131896870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080750	H080750N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	59	60	.	.	ENST00000286355.5:c.2049G>T	p.Leu683Phe	p.L683F	ENST00000286355	NM_001115.2	683	ttG/ttT	0	1	1	UPI000012887C	0	NA	ENST00000286355		ENSG00000155897	239		119	1.79		HGNC	p.L683F		ADCY8		SNV							ENST00000286355	protein_coding	getma.org/?cm=var&var=hg19,8,131896870,C,A&fts=all		Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229		L/F		A	low	4142/5938		getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=617&re=712&var=L683F	deleterious(0.02)	E5RFR2_HUMAN			YES	ADCY8,missense_variant,p.Leu683Phe,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Leu683Phe,ENST00000377928,;							MODERATE	2049/3756	L683F	ADCY8_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000286355		CCDS6363.1			1	
ALG10B	0	LGGM	GRCh37	12	38714091	38714091	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080750	H080750N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080750N.bam, H080750T.bam	Illumina HiSeq	127	80	.	.	ENST00000308742.4:c.498G>A	p.Met166Ile	p.M166I	ENST00000308742	NM_001013620.3	166	atG/atA	0	1	1	UPI000013EDA4	0	NA	ENST00000308742		ENSG00000175548	31088		207	1.495		HGNC	p.M166I	rs761915182	ALG10B	6.06E-05	SNV							ENST00000308742	protein_coding	getma.org/?cm=var&var=hg19,12,38714091,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12989:SF12,hmmpanther:PTHR12989,Pfam_domain:PF04922,PIRSF_domain:PIRSF028810		M/I		A	low	814/3111		getma.org/?cm=msa&ty=f&p=AG10B_HUMAN&rb=28&re=427&var=M166I	deleterious(0.05)				YES	ALG10B,missense_variant,p.Met166Ile,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,;							MODERATE	498/1422	M166I	AG10B_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000310120	8.24E-06	CCDS31772.1			1	
PNOC	0	LGGM	GRCh37	8	28196795	28196795	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	9	2	.	.	ENST00000301908.3:c.365A>G	p.Glu122Gly	p.E122G	ENST00000301908	NM_006228.3	122	gAg/gGg	0	1	1	UPI0000131D53	0	NA	ENST00000301908		ENSG00000168081	9163		11	2.295		HGNC	p.E58G		PNOC		SNV							ENST00000522209	protein_coding	getma.org/?cm=var&var=hg19,8,28196795,A,G&fts=all		Prints_domain:PR01031,hmmpanther:PTHR11438,Low_complexity_(Seg):seg		E/G		G	medium	573/1200		getma.org/?cm=msa&ty=f&p=PNOC_HUMAN&rb=69&re=176&var=E122G	tolerated(0.1)	Q9BYY3_HUMAN,E7EVP0_HUMAN,B7Z749_HUMAN			YES	PNOC,missense_variant,p.Glu122Gly,ENST00000301908,NM_006228.3;PNOC,missense_variant,p.Glu58Gly,ENST00000522209,NM_001284244.1;PNOC,missense_variant,p.Glu122Gly,ENST00000518479,;RP11-380I10.4,upstream_gene_variant,,ENST00000521731,;PNOC,non_coding_transcript_exon_variant,,ENST00000519592,;							MODERATE	365/531	E122G	PNOC_HUMAN			Transcript		benign(0.038)	.	ENSP00000301908		CCDS6066.1			1	
SFXN4	0	LGGM	GRCh37	10	120925156	120925156	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	5	2	.	.	ENST00000355697.2:c.4T>C	p.Ser2Pro	p.S2P	ENST00000355697	NM_213649.1	2	Tcc/Ccc	0	1	1	UPI000004D333	0	NA	ENST00000355697		ENSG00000183605	16088		7	0		HGNC	p.S2P		SFXN4		SNV			1				ENST00000355697	protein_coding	getma.org/?cm=var&var=hg19,10,120925156,A,G&fts=all				S/P		G	neutral	24/1363		getma.org/?cm=msa&ty=f&p=SFXN4_HUMAN&rb=1&re=33&var=S2P	deleterious_low_confidence(0)	B1AMV8_HUMAN,B1AMV7_HUMAN			YES	SFXN4,missense_variant,p.Ser2Pro,ENST00000355697,NM_213649.1;SFXN4,missense_variant,p.Ser2Pro,ENST00000330036,;PRDX3,downstream_gene_variant,,ENST00000298510,NM_006793.3;PRDX3,downstream_gene_variant,,ENST00000356951,NM_014098.3;SFXN4,upstream_gene_variant,,ENST00000369131,;SFXN4,upstream_gene_variant,,ENST00000419372,;SFXN4,non_coding_transcript_exon_variant,,ENST00000461438,;PRDX3,downstream_gene_variant,,ENST00000494433,;SFXN4,upstream_gene_variant,,ENST00000466218,;SFXN4,upstream_gene_variant,,ENST00000462913,;							MODERATE	4/1014	S2P	SFXN4_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000347924		CCDS7610.1			1	
ARHGEF5	0	LGGM	GRCh37	7	144060590	144060590	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	18	3	.	.	ENST00000056217.5:c.828G>A	p.Gln276=	p.Q276=	ENST00000056217	NM_005435.3	276	caG/caA	0	1	1	UPI00004028DC	0		ENST00000056217		ENSG00000050327	13209		21			HGNC	p.Q276Q		ARHGEF5		SNV							ENST00000056217	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845,Pfam_domain:PF15441		Q		A		1002/5544				H9XFB6_HUMAN			YES	ARHGEF5,synonymous_variant,p.=,ENST00000056217,NM_005435.3;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000474817,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;							LOW	828/4794		ARHG5_HUMAN			Transcript			.	ENSP00000056217		CCDS34771.1			1	
GRAP2	0	LGGM	GRCh37	22	40365485	40365485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	31	3	.	.	ENST00000344138.4:c.761C>T	p.Ala254Val	p.A254V	ENST00000344138	NM_004810.2	254	gCg/gTg	0	1	1	UPI000012BB02	0	NA	ENST00000344138		ENSG00000100351	4563		34	0.895		HGNC	p.A254V	rs750643624,COSM388161	GRAP2		SNV						0,1	ENST00000407075	protein_coding	getma.org/?cm=var&var=hg19,22,40365485,C,T&fts=all		hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF28		A/V		T	low	1024/3893		getma.org/?cm=msa&ty=f&p=GRAP2_HUMAN&rb=133&re=276&var=A254V	tolerated(0.18)	Q6FI14_HUMAN,B7Z8E3_HUMAN,B1AH86_HUMAN			YES	GRAP2,missense_variant,p.Ala254Val,ENST00000344138,NM_004810.2;GRAP2,missense_variant,p.Ala182Val,ENST00000544756,;GRAP2,missense_variant,p.Ala254Val,ENST00000407075,;GRAP2,missense_variant,p.Ala188Val,ENST00000540310,;GRAP2,missense_variant,p.Ala214Val,ENST00000543252,;GRAP2,missense_variant,p.Ala141Val,ENST00000399090,;RP3-370M22.8,downstream_gene_variant,,ENST00000424496,;GRAP2,downstream_gene_variant,,ENST00000478445,;GRAP2,non_coding_transcript_exon_variant,,ENST00000460449,;GRAP2,downstream_gene_variant,,ENST00000481263,;	0.000116				0,1		MODERATE	761/993	A254V	GRAP2_HUMAN			Transcript		benign(0.014)	.	ENSP00000339186	8.24E-06	CCDS13999.1			1	
PYROXD2	0	LGGM	GRCh37	10	100157191	100157191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	43	3	.	.	ENST00000370575.4:c.536C>T	p.Ala179Val	p.A179V	ENST00000370575	NM_032709.2	179	gCg/gTg	0	1	1	UPI000013CA6A	0	NA	ENST00000370575		ENSG00000119943	23517		46	2.3		HGNC	p.A179V	rs568245398	PYROXD2	0.000249	SNV							ENST00000370575	protein_coding	getma.org/?cm=var&var=hg19,10,100157191,G,A&fts=all	A:0	Low_complexity_(Seg):seg,hmmpanther:PTHR10668:SF4,hmmpanther:PTHR10668,Superfamily_domains:SSF51905		A/V		A	medium	585/2028	1.51E-05	getma.org/?cm=msa&ty=f&p=PYRD2_HUMAN&rb=103&re=302&var=A179V	tolerated(0.18)	B4DIN5_HUMAN	A:0	A:0.002	YES	PYROXD2,missense_variant,p.Ala179Val,ENST00000370575,NM_032709.2;MIR1287,upstream_gene_variant,,ENST00000408492,;PYROXD2,non_coding_transcript_exon_variant,,ENST00000483923,;	0.000463	A:0.0004					MODERATE	536/1746	A179V	PYRD2_HUMAN		A:0	Transcript		benign(0.001)	common_variant	ENSP00000359607	7.41E-05	CCDS7474.1		A:0	1	
NOS1	0	LGGM	GRCh37	12	117718597	117718597	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	21	3	.	.	ENST00000338101.4:c.1457G>T	p.Arg486Leu	p.R486L	ENST00000338101		486	cGc/cTc	0	1		UPI0000130397	0	getma.org/pdb.php?prot=NOS1_HUMAN&from=351&to=722&var=R486L	ENST00000317775		ENSG00000089250	7872		24	3.285		HGNC	p.R486L		NOS1		SNV			1				ENST00000338101	protein_coding	getma.org/?cm=var&var=hg19,12,117718597,C,A&fts=all		Superfamily_domains:SSF56512,PIRSF_domain:PIRSF000333,Pfam_domain:PF02898,Gene3D:3.90.340.10,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384		R/L		A	medium	2143/12158		getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=351&re=722&var=R486L	deleterious(0.01)	B3VK56_HUMAN,A0PJJ7_HUMAN				NOS1,missense_variant,p.Arg486Leu,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Arg486Leu,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;							MODERATE	1457/4305	R486L	NOS1_HUMAN			Transcript		possibly_damaging(0.592)	.	ENSP00000320758		CCDS41842.1			1	
LAMB1	0	LGGM	GRCh37	7	107596022	107596022	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	26	3	.	.	ENST00000222399.6:c.2744G>T	p.Arg915Leu	p.R915L	ENST00000222399	NM_002291.2	915	cGc/cTc	0	1	1	UPI00001AE63F	0	getma.org/pdb.php?prot=LAMB1_HUMAN&from=867&to=916&var=R915L	ENST00000222399		ENSG00000091136	6486		29	2.06		HGNC	p.R939L		LAMB1		SNV			1				ENST00000393561	protein_coding	getma.org/?cm=var&var=hg19,7,107596022,C,A&fts=all		PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00181,Superfamily_domains:SSF57196		R/L		A	medium	2975/5725		getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=867&re=916&var=R915L	deleterious(0.02)	Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,missense_variant,p.Arg939Leu,ENST00000393561,;LAMB1,missense_variant,p.Arg915Leu,ENST00000222399,NM_002291.2;LAMB1,downstream_gene_variant,,ENST00000393560,;LAMB1,upstream_gene_variant,,ENST00000476039,;LAMB1,upstream_gene_variant,,ENST00000479448,;							MODERATE	2744/5361	R915L	LAMB1_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000222399		CCDS5750.1			1	
EIF3I	0	LGGM	GRCh37	1	32696722	32696722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	39	3	.	.	ENST00000373586.1:c.903C>A	p.Ser301Arg	p.S301R	ENST00000373586	NM_003757.2	301	agC/agA	0	1	1	UPI000012D2FB	0	getma.org/pdb.php?prot=EIF3I_HUMAN&from=276&to=312&var=S301R	ENST00000373586		ENSG00000084623	3272		42	0.975		HGNC	p.S301R		EIF3I		SNV							ENST00000373586	protein_coding	getma.org/?cm=var&var=hg19,1,32696722,C,A&fts=all		HAMAP:MF_03008,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19877,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		S/R		A	low	975/1458		getma.org/?cm=msa&ty=f&p=EIF3I_HUMAN&rb=276&re=312&var=S301R	deleterious(0)	Q9P1D9_HUMAN,Q5U0F4_HUMAN,Q5TFK1_HUMAN			YES	EIF3I,missense_variant,p.Ser301Arg,ENST00000373586,NM_003757.2;EIF3I,downstream_gene_variant,,ENST00000355082,;MTMR9LP,downstream_gene_variant,,ENST00000441044,;MTMR9LP,downstream_gene_variant,,ENST00000423995,;MTMR9LP,downstream_gene_variant,,ENST00000403496,;EIF3I,downstream_gene_variant,,ENST00000471486,;EIF3I,downstream_gene_variant,,ENST00000483517,;EIF3I,downstream_gene_variant,,ENST00000474371,;EIF3I,downstream_gene_variant,,ENST00000489353,;MTMR9LP,downstream_gene_variant,,ENST00000426597,;							MODERATE	903/978	S301R	EIF3I_HUMAN			Transcript		benign(0.201)	.	ENSP00000362688		CCDS357.1			1	
EFS	0	LGGM	GRCh37	14	23828096	23828096	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	41	3	.	.	ENST00000216733.3:c.1240C>T	p.Pro414Ser	p.P414S	ENST00000216733	NM_005864.3	414	Ccg/Tcg	0	1	1	UPI0000129D21	0	NA	ENST00000216733		ENSG00000100842	16898		44	1.935		HGNC	p.P245S	rs531434738,COSM1493260	EFS	0.000339	SNV						0,1	ENST00000429593	protein_coding	getma.org/?cm=var&var=hg19,14,23828096,G,A&fts=all	A:0	Pfam_domain:PF12026,hmmpanther:PTHR10654:SF13,hmmpanther:PTHR10654		P/S		A	medium	1848/3118		getma.org/?cm=msa&ty=f&p=EFS_HUMAN&rb=364&re=557&var=P414S	tolerated(0.18)		A:0	A:0	YES	EFS,missense_variant,p.Pro414Ser,ENST00000216733,NM_005864.3;EFS,missense_variant,p.Pro321Ser,ENST00000351354,NM_032459.2,NM_001277174.1;EFS,missense_variant,p.Pro245Ser,ENST00000429593,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;		A:0.0004			0,1		MODERATE	1240/1686	P414S	EFS_HUMAN		A:0	Transcript		benign(0.297)	.	ENSP00000216733	4.12E-05	CCDS9595.1		A:0.002	1	
SNX5	0	LGGM	GRCh37	20	17929539	17929539	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	36	3	.	.	ENST00000377768.3:c.913G>T	p.Ala305Ser	p.A305S	ENST00000377768	NM_152227.1	305	Gct/Tct	0	1		UPI0000135B43	0	NA	ENST00000377759		ENSG00000089006	14969		39	2.865		HGNC	p.A305S		SNX5		SNV							ENST00000377768	protein_coding	getma.org/?cm=var&var=hg19,20,17929539,C,A&fts=all		Superfamily_domains:SSF103657,PIRSF_domain:PIRSF036924,Pfam_domain:PF09325,hmmpanther:PTHR10555:SF6,hmmpanther:PTHR10555		A/S		A	medium	1208/2270		getma.org/?cm=msa&ty=f&p=SNX5_HUMAN&rb=179&re=345&var=A305S	deleterious(0)					SNX5,missense_variant,p.Ala305Ser,ENST00000377768,NM_152227.1;SNX5,missense_variant,p.Ala305Ser,ENST00000377759,NM_014426.2;SNX5,missense_variant,p.Ala268Ser,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,;							MODERATE	913/1215	A305S	SNX5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366988		CCDS13130.1			1	
MYT1	0	LGGM	GRCh37	20	62871673	62871673	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	13	4	.	.	ENST00000328439.1:c.3238G>A	p.Glu1080Lys	p.E1080K	ENST00000328439	NM_004535.2	1080	Gag/Aag	0	1	1	UPI000012FBFA	0	NA	ENST00000328439		ENSG00000196132	7622		17	2.255		HGNC	p.E1107K		MYT1		SNV							ENST00000536311	protein_coding	getma.org/?cm=var&var=hg19,20,62871673,G,A&fts=all		hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10		E/K		A	medium	3602/5533		getma.org/?cm=msa&ty=f&p=MYT1_HUMAN&rb=974&re=1121&var=E1080K					YES	MYT1,missense_variant,p.Glu1107Lys,ENST00000536311,;MYT1,missense_variant,p.Glu1080Lys,ENST00000328439,NM_004535.2;							MODERATE	3238/3366	E1080K	MYT1_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000327465		CCDS13558.1			1	
ZNF385D	0	LGGM	GRCh37	3	21462772	21462772	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	8	6	.	.	ENST00000281523.2:c.1122A>G	p.Ala374=	p.A374=	ENST00000281523	NM_024697.2	374	gcA/gcG	0	1	1	UPI00000724AC	0		ENST00000281523		ENSG00000151789	26191		14			HGNC	p.A374A		ZNF385D		SNV							ENST00000281523	protein_coding			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12,Low_complexity_(Seg):seg		A		C		1641/4498							YES	ZNF385D,synonymous_variant,p.=,ENST00000281523,NM_024697.2;ZNF385D,downstream_gene_variant,,ENST00000467140,;							LOW	1122/1188		Z385D_HUMAN			Transcript			.	ENSP00000281523		CCDS2636.1			1	
NREP	0	LGGM	GRCh37	5	111071129	111071129	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	39	7	.	.	ENST00000395634.3:c.211A>G	p.Lys71Glu	p.K71E	ENST00000395634	NM_001142475.1	71	Aag/Gag	0	1		UPI0000047FA1	0		ENST00000257435		ENSG00000134986	16834		46			HGNC	p.K71E		NREP		SNV							ENST00000395634	protein_coding			Pfam_domain:PF11092,hmmpanther:PTHR17102,hmmpanther:PTHR17102:SF4		K/E		C		260/2013			tolerated(0.07)	D6RIC9_HUMAN,D6R9Y7_HUMAN				NREP,missense_variant,p.Lys27Glu,ENST00000379671,NM_001142478.1;NREP,missense_variant,p.Lys27Glu,ENST00000447165,NM_001142483.1;NREP,missense_variant,p.Lys27Glu,ENST00000446294,NM_001142481.1,NM_001142482.1;NREP,missense_variant,p.Lys27Glu,ENST00000257435,NM_004772.2,NM_001142477.1;NREP,missense_variant,p.Lys71Glu,ENST00000395634,NM_001142475.1,NM_001142474.1;NREP,missense_variant,p.Lys27Glu,ENST00000509025,;NREP,missense_variant,p.Lys27Glu,ENST00000515855,;NREP,missense_variant,p.Lys27Glu,ENST00000509979,;NREP,missense_variant,p.Lys27Glu,ENST00000419114,NM_001142479.1,NM_001142480.1;NREP,missense_variant,p.Lys27Glu,ENST00000455559,NM_001142476.1;NREP,missense_variant,p.Lys27Glu,ENST00000450761,;NREP,missense_variant,p.Lys27Glu,ENST00000509427,;NREP,missense_variant,p.Lys27Glu,ENST00000453526,;NREP,missense_variant,p.Lys27Glu,ENST00000513100,;NREP,missense_variant,p.Lys27Glu,ENST00000508870,;NREP,missense_variant,p.Lys27Glu,ENST00000508161,;NREP,downstream_gene_variant,,ENST00000507032,;STARD4-AS1,intron_variant,,ENST00000500779,;STARD4-AS1,downstream_gene_variant,,ENST00000513221,;NREP,splice_region_variant,,ENST00000507742,;NREP,missense_variant,p.Lys27Glu,ENST00000514515,;NREP,splice_region_variant,,ENST00000504018,;NREP,non_coding_transcript_exon_variant,,ENST00000503429,;NREP,non_coding_transcript_exon_variant,,ENST00000505864,;							MODERATE	79/207		NREP_HUMAN			Transcript		benign(0.063)	.	ENSP00000257435		CCDS4105.1			1	
TAF15	0	LGGM	GRCh37	17	34169389	34169389	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	10	7	.	.	ENST00000588240.1:c.932A>C	p.Asn311Thr	p.N311T	ENST00000588240	NM_139215.2	311	aAc/aCc	0	1	1	UPI000013317D	0	getma.org/pdb.php?prot=RBP56_HUMAN&from=236&to=314&var=N311T	ENST00000588240		ENSG00000172660	11547		17	1.585		HGNC	p.N220T		TAF15		SNV							ENST00000592237	protein_coding	getma.org/?cm=var&var=hg19,17,34169389,A,C&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		N/T		C	low	1047/2191		getma.org/?cm=msa&ty=f&p=RBP56_HUMAN&rb=236&re=314&var=N311T	deleterious_low_confidence(0.02)	Q86X94_HUMAN,K7EJB3_HUMAN			YES	TAF15,missense_variant,p.Asn311Thr,ENST00000588240,NM_139215.2,NM_003487.3;TAF15,missense_variant,p.Asn308Thr,ENST00000311979,;TAF15,missense_variant,p.Asn220Thr,ENST00000592237,;TAF15,upstream_gene_variant,,ENST00000585577,;TAF15,upstream_gene_variant,,ENST00000586593,;TAF15,3_prime_UTR_variant,,ENST00000590051,;TAF15,downstream_gene_variant,,ENST00000591763,;TAF15,downstream_gene_variant,,ENST00000586970,;							MODERATE	932/1779	N311T	RBP56_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000466950		CCDS32623.1			1	
FAM101B	0	LGGM	GRCh37	17	293095	293095	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	2	8	.	.	ENST00000329099.4:c.295G>A	p.Val99Met	p.V99M	ENST00000329099	NM_182705.2	99	Gtg/Atg	0	1	1	UPI00001AF949	0	NA	ENST00000329099		ENSG00000183688	28705	8.66E-05	10	2.095		HGNC	p.V99M	rs781845685	FAM101B		SNV							ENST00000329099	protein_coding	getma.org/?cm=var&var=hg19,17,293095,C,T&fts=all		hmmpanther:PTHR31848:SF2,hmmpanther:PTHR31848,Pfam_domain:PF15068		V/M		T	medium	295/3621	1.51E-05	getma.org/?cm=msa&ty=f&p=F101B_HUMAN&rb=1&re=212&var=V169M	deleterious(0)				YES	FAM101B,missense_variant,p.Val99Met,ENST00000329099,NM_182705.2;							MODERATE	295/435	V169M	F101B_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000331915	1.65E-05				1	
FUBP3	0	LGGM	GRCh37	9	133488372	133488372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	23	8	.	.	ENST00000319725.9:c.304C>T	p.Arg102Trp	p.R102W	ENST00000319725	NM_003934.1	102	Cgg/Tgg	0	1	1	UPI00001C1EAA	0	getma.org/pdb.php?prot=FUBP3_HUMAN&from=79&to=141&var=R102W	ENST00000319725		ENSG00000107164	4005		31	3.665		HGNC	p.R102W	rs368399810,COSM3904785	FUBP3		SNV	T:0.0003					0,1	ENST00000319725	protein_coding	getma.org/?cm=var&var=hg19,9,133488372,C,T&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF100,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791		R/W	T:0	T	high	379/3124		getma.org/?cm=msa&ty=f&p=FUBP3_HUMAN&rb=79&re=141&var=R102W	deleterious(0)				YES	FUBP3,missense_variant,p.Arg102Trp,ENST00000319725,NM_003934.1;FUBP3,non_coding_transcript_exon_variant,,ENST00000465949,;					0,1		MODERATE	304/1719	R102W	FUBP3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000318177		CCDS43893.1			1	
PECR	0	LGGM	GRCh37	2	216946389	216946389	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	18	8	.	.	ENST00000265322.7:c.76G>A	p.Gly26Arg	p.G26R	ENST00000265322	NM_018441.5	26	Ggg/Agg	0	1	1	UPI000004C794	0	getma.org/pdb.php?prot=PECR_HUMAN&from=25&to=266&var=G26R	ENST00000265322		ENSG00000115425	18281		26	3.855		HGNC	p.G26R		PECR		SNV							ENST00000442122	protein_coding	getma.org/?cm=var&var=hg19,2,216946389,C,T&fts=all		hmmpanther:PTHR24317,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081		G/R		T	high	151/1853		getma.org/?cm=msa&ty=f&p=PECR_HUMAN&rb=25&re=266&var=G26R	deleterious(0.02)				YES	PECR,missense_variant,p.Gly26Arg,ENST00000265322,NM_018441.5;TMEM169,upstream_gene_variant,,ENST00000454545,NM_001142310.1;TMEM169,upstream_gene_variant,,ENST00000295658,NM_001142311.1,NM_001142312.1,NM_138390.3;TMEM169,upstream_gene_variant,,ENST00000406027,;TMEM169,upstream_gene_variant,,ENST00000437356,;TMEM169,upstream_gene_variant,,ENST00000433112,;TMEM169,upstream_gene_variant,,ENST00000455479,;PECR,non_coding_transcript_exon_variant,,ENST00000497889,;PECR,non_coding_transcript_exon_variant,,ENST00000487318,;PECR,intron_variant,,ENST00000464722,;PECR,missense_variant,p.Gly26Arg,ENST00000442122,;PECR,non_coding_transcript_exon_variant,,ENST00000474093,;							MODERATE	76/912	G26R	PECR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265322		CCDS33375.1			1	
TP53	0	LGGM	GRCh37	17	7578455	7578455	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	1	8	.	.	ENST00000269305.4:c.475G>C	p.Ala159Pro	p.A159P	ENST00000269305	NM_001126112.2	159	Gcc/Ccc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=A159P	ENST00000269305	uncertain_significance	ENSG00000141510	11998		9	3.065		HGNC	p.A159P	rs730882000,TP53_g.12463G>C,COSM43836,COSM562625,COSM562626,COSM562628,COSM1649380,COSM562627	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578455,C,G&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		A/P		G	medium	665/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=A159P	deleterious(0)	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			YES	TP53,missense_variant,p.Ala159Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ala159Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ala159Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ala159Pro,ENST00000445888,;TP53,missense_variant,p.Ala159Pro,ENST00000359597,;TP53,missense_variant,p.Ala159Pro,ENST00000413465,;TP53,missense_variant,p.Ala27Pro,ENST00000509690,;TP53,missense_variant,p.Ala159Pro,ENST00000508793,;TP53,missense_variant,p.Ala66Pro,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,;					0,0,1,1,1,1,1,1		MODERATE	475/1182	A159P	P53_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000269305		CCDS11118.1			1	
ATPAF1	0	LGGM	GRCh37	1	47119509	47119509	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	14	8	.	.	ENST00000576409.1:c.589A>G	p.Thr197Ala	p.T197A	ENST00000576409		197	Aca/Gca	0	1		UPI0000DACAC7	0	getma.org/pdb.php?prot=ATPF1_HUMAN&from=69&to=310&var=T174A	ENST00000574428		ENSG00000123472	18803		22	1.23		HGNC	p.T174A		ATPAF1		SNV			1				ENST00000371937	protein_coding	getma.org/?cm=var&var=hg19,1,47119509,T,C&fts=all		hmmpanther:PTHR13126,Pfam_domain:PF06644		T/A		C	low	625/3923		getma.org/?cm=msa&ty=f&p=ATPF1_HUMAN&rb=69&re=310&var=T174A	tolerated(0.09)	I3L1W9_HUMAN				ATPAF1,missense_variant,p.Thr197Ala,ENST00000576409,;ATPAF1,missense_variant,p.Thr174Ala,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Thr174Ala,ENST00000574428,;ATPAF1,missense_variant,p.Thr23Ala,ENST00000542495,NM_001256418.1;ATPAF1,missense_variant,p.Thr197Ala,ENST00000329231,NM_001042546.2;ATPAF1,missense_variant,p.Thr88Ala,ENST00000526821,;ATPAF1,missense_variant,p.Thr86Ala,ENST00000532925,NM_001243728.1;ATPAF1,intron_variant,,ENST00000534216,;EFCAB14,downstream_gene_variant,,ENST00000544071,;ATPAF1,downstream_gene_variant,,ENST00000525633,;ATPAF1,3_prime_UTR_variant,,ENST00000529214,;ATPAF1,3_prime_UTR_variant,,ENST00000487193,;ATPAF1,non_coding_transcript_exon_variant,,ENST00000474020,;							MODERATE	520/783	T174A				Transcript		probably_damaging(0.992)	.	ENSP00000459167					1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	25	10	.	.	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33P	ENST00000349496		ENSG00000168036	2514		35	2.46		HGNC	p.S33P	COSM5682	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33P	CTNB1_HUMAN			Transcript		benign(0.423)	.	ENSP00000344456		CCDS2694.1			1	
BTAF1	0	LGGM	GRCh37	10	93702321	93702321	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	12	10	.	.	ENST00000265990.6:c.396A>C	p.Lys132Asn	p.K132N	ENST00000265990	NM_003972.2	132	aaA/aaC	0	1	1	UPI0000136782	0	NA	ENST00000265990		ENSG00000095564	17307		22	0.18		HGNC	p.K132N		BTAF1		SNV							ENST00000265990	protein_coding	getma.org/?cm=var&var=hg19,10,93702321,A,C&fts=all		hmmpanther:PTHR10799:SF225,hmmpanther:PTHR10799		K/N		C	neutral	704/7250		getma.org/?cm=msa&ty=f&p=BTAF1_HUMAN&rb=1&re=200&var=K132N	tolerated(0.39)	Q8N6J1_HUMAN,Q2M1V9_HUMAN,B4E0W6_HUMAN			YES	BTAF1,missense_variant,p.Lys132Asn,ENST00000265990,NM_003972.2;							MODERATE	396/5550	K132N	BTAF1_HUMAN			Transcript		benign(0.002)	.	ENSP00000265990		CCDS7419.1			1	
PVRL2	0	LGGM	GRCh37	19	45375222	45375222	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	10	11	.	.	ENST00000252483.5:c.591C>T	p.Leu197=	p.L197=	ENST00000252483	NM_001042724.1	197	ctC/ctT	0	1	1	UPI000004A2BF	0		ENST00000252483		ENSG00000130202	9707		21			HGNC	p.L197L		PVRL2		SNV							ENST00000252485	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF63,Pfam_domain:PF08205,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		L		T		591/2466				Q7Z458_HUMAN,Q7Z457_HUMAN,Q7Z456_HUMAN			YES	PVRL2,synonymous_variant,p.=,ENST00000252483,NM_001042724.1;PVRL2,synonymous_variant,p.=,ENST00000252485,NM_002856.2;PVRL2,synonymous_variant,p.=,ENST00000591581,;PVRL2,upstream_gene_variant,,ENST00000585601,;PVRL2,upstream_gene_variant,,ENST00000587386,;							LOW	591/1617		PVRL2_HUMAN			Transcript			.	ENSP00000252483		CCDS42576.1			1	
CEP85	0	LGGM	GRCh37	1	26595023	26595023	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	17	11	.	.	ENST00000252992.4:c.1391A>T	p.Lys464Met	p.K464M	ENST00000252992	NM_022778.3	464	aAg/aTg	0	1	1	UPI0000231C37	0	NA	ENST00000252992		ENSG00000130695	25309		28	2.42		HGNC	p.K464M		CEP85		SNV							ENST00000476272	protein_coding	getma.org/?cm=var&var=hg19,1,26595023,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF3		K/M		T	medium	1522/3935		getma.org/?cm=msa&ty=f&p=CEP85_HUMAN&rb=401&re=600&var=K464M	deleterious(0)				YES	CEP85,missense_variant,p.Lys464Met,ENST00000252992,NM_022778.3;CEP85,missense_variant,p.Lys138Met,ENST00000453146,;CEP85,missense_variant,p.Lys413Met,ENST00000451429,NM_001281517.1;CEP85,upstream_gene_variant,,ENST00000469609,;CEP85,upstream_gene_variant,,ENST00000491670,;CEP85,upstream_gene_variant,,ENST00000468163,;CEP85,missense_variant,p.Lys464Met,ENST00000476272,;							MODERATE	1391/2289	K464M	CEP85_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000252992		CCDS277.1			1	
SLC2A9	0	LGGM	GRCh37	4	9892286	9892286	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	8	11	.	.	ENST00000264784.3:c.1163T>G	p.Phe388Cys	p.F388C	ENST00000264784	NM_020041.2	388	tTt/tGt	0	1	1	UPI000013D56E	0	NA	ENST00000264784		ENSG00000109667	13446		19	1.885		HGNC	p.F388C		SLC2A9		SNV			1				ENST00000264784	protein_coding	getma.org/?cm=var&var=hg19,4,9892286,A,C&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF8,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix		F/C		C	low	1217/1850		getma.org/?cm=msa&ty=f&p=GTR9_HUMAN&rb=59&re=514&var=F388C	deleterious(0.02)				YES	SLC2A9,missense_variant,p.Phe359Cys,ENST00000506583,;SLC2A9,missense_variant,p.Phe359Cys,ENST00000309065,NM_001001290.1;SLC2A9,missense_variant,p.Phe388Cys,ENST00000264784,NM_020041.2;SLC2A9,non_coding_transcript_exon_variant,,ENST00000505104,;SLC2A9,intron_variant,,ENST00000503280,;SLC2A9,upstream_gene_variant,,ENST00000512342,;SLC2A9,upstream_gene_variant,,ENST00000503803,;							MODERATE	1163/1623	F388C	GTR9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264784		CCDS3407.1			1	
CEP72	0	LGGM	GRCh37	5	624606	624606	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	16	11	.	.	ENST00000264935.5:c.424A>G	p.Ser142Gly	p.S142G	ENST00000264935	NM_018140.3	142	Agc/Ggc	0	1	1	UPI0000072FB8	0	NA	ENST00000264935		ENSG00000112877	25547		27	1.535		HGNC	p.S142G		CEP72		SNV							ENST00000444221	protein_coding	getma.org/?cm=var&var=hg19,5,624606,A,G&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23311,hmmpanther:PTHR23311:SF0,Superfamily_domains:SSF52058		S/G		G	low	514/2434		getma.org/?cm=msa&ty=f&p=CEP72_HUMAN&rb=111&re=150&var=S142G	deleterious(0.01)				YES	CEP72,missense_variant,p.Ser142Gly,ENST00000264935,NM_018140.3;CEP72,missense_variant,p.Ser142Gly,ENST00000444221,;							MODERATE	424/1944	S142G	CEP72_HUMAN			Transcript		possibly_damaging(0.751)	.	ENSP00000264935		CCDS34126.1			1	
RTBDN	0	LGGM	GRCh37	19	12945627	12945627	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	17	12	.	.	ENST00000322912.5:c.50C>A	p.Ser17Ter	p.S17*	ENST00000322912	NM_031429.2	17	tCg/tAg	0	1		UPI0000073E12	0		ENST00000393233		ENSG00000132026	30310		29			HGNC	p.S17X		RTBDN		SNV							ENST00000587549	protein_coding							T		380/2076				Q8N210_HUMAN				RTBDN,stop_gained,p.Ser17Ter,ENST00000589272,;RTBDN,stop_gained,p.Ser17Ter,ENST00000322912,NM_031429.2;RTBDN,stop_gained,p.Ser17Ter,ENST00000587549,;RTBDN,5_prime_UTR_variant,,ENST00000393233,NM_001270440.1;RTBDN,5_prime_UTR_variant,,ENST00000591512,;MAST1,intron_variant,,ENST00000591495,;MAST1,upstream_gene_variant,,ENST00000251472,NM_014975.2;RTBDN,upstream_gene_variant,,ENST00000458671,NM_001080997.2;RTBDN,upstream_gene_variant,,ENST00000592204,NM_001270442.1,NM_001270441.1;RTBDN,upstream_gene_variant,,ENST00000586969,;RTBDN,upstream_gene_variant,,ENST00000589808,NM_001270444.1,NM_001270443.1;RTBDN,upstream_gene_variant,,ENST00000589681,NM_001270445.1;RTBDN,upstream_gene_variant,,ENST00000590404,;RTBDN,upstream_gene_variant,,ENST00000585384,;RTBDN,upstream_gene_variant,,ENST00000589567,;CTD-2265O21.3,downstream_gene_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;MAST1,upstream_gene_variant,,ENST00000590883,;							MODIFIER	-/675					Transcript			.	ENSP00000376925					1	
HTATIP2	0	LGGM	GRCh37	11	20398204	20398204	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	27	12	.	.	ENST00000419348.2:c.484A>G	p.Asn162Asp	p.N162D	ENST00000419348	NM_001098520.1	162	Aac/Gac	0	1		UPI000013C8B2	0	getma.org/pdb.php?prot=HTAI2_HUMAN&from=21&to=216&var=N128D	ENST00000421577		ENSG00000109854	16637		39	1.67		HGNC	p.N128D	rs377524639	HTATIP2		SNV	G:0						ENST00000443524	protein_coding	getma.org/?cm=var&var=hg19,11,20398204,A,G&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF13460,hmmpanther:PTHR14097,hmmpanther:PTHR14097:SF7,Superfamily_domains:SSF51735		N/D	G:0.0002	G	low	410/886	7.49E-05	getma.org/?cm=msa&ty=f&p=HTAI2_HUMAN&rb=21&re=216&var=N128D	tolerated(0.23)					HTATIP2,missense_variant,p.Asn128Asp,ENST00000451739,NM_001098522.1;HTATIP2,missense_variant,p.Asn162Asp,ENST00000419348,NM_001098520.1;HTATIP2,missense_variant,p.Asn128Asp,ENST00000443524,NM_001098521.1;HTATIP2,missense_variant,p.Asn128Asp,ENST00000421577,NM_006410.4;HTATIP2,intron_variant,,ENST00000531058,;HTATIP2,non_coding_transcript_exon_variant,,ENST00000533914,;							MODERATE	382/729	N128D	HTAI2_HUMAN			Transcript		benign(0.363)	.	ENSP00000397752	4.12E-05	CCDS7852.1			1	
MAGEB2	0	LGGM	GRCh37	X	30237615	30237615	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	2	12	.	.	ENST00000378988.4:c.918T>C	p.His306=	p.H306=	ENST00000378988	NM_002364.4	306	caT/caC	0	1	1	UPI000013C683	0		ENST00000378988		ENSG00000099399	6809		14			HGNC	p.H306H		MAGEB2		SNV							ENST00000378988	protein_coding			hmmpanther:PTHR11736:SF22,hmmpanther:PTHR11736,PROSITE_profiles:PS50838		H		C		1019/1610							YES	MAGEB2,synonymous_variant,p.=,ENST00000378988,NM_002364.4;							LOW	918/960		MAGB2_HUMAN			Transcript			.	ENSP00000368273		CCDS14219.1			1	
ZC3HAV1	0	LGGM	GRCh37	7	138732490	138732490	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	34	13	.	.	ENST00000242351.5:c.2559A>C	p.Gly853=	p.G853=	ENST00000242351	NM_020119.3	853	ggA/ggC	0	1	1	UPI00001612AE	0		ENST00000242351		ENSG00000105939	23721		47			HGNC	p.G853G		ZC3HAV1		SNV							ENST00000242351	protein_coding			PROSITE_profiles:PS51059,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399		G		G		2876/7100							YES	ZC3HAV1,synonymous_variant,p.=,ENST00000242351,NM_020119.3;ZC3HAV1,synonymous_variant,p.=,ENST00000464606,;RP11-383F6.1,downstream_gene_variant,,ENST00000429934,;							LOW	2559/2709		ZCCHV_HUMAN			Transcript			.	ENSP00000242351		CCDS5851.1			1	
PTGDS	0	LGGM	GRCh37	9	139874677	139874677	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	11	13	.	.	ENST00000371625.3:c.491C>A	p.Thr164Asn	p.T164N	ENST00000371625	NM_000954.5	164	aCc/aAc	0	1	1	UPI00001317A4	0	getma.org/pdb.php?prot=PTGDS_HUMAN&from=40&to=184&var=T164N	ENST00000371625		ENSG00000107317	9592		24	1.845		HGNC	p.T164N		PTGDS		SNV							ENST00000371625	protein_coding	getma.org/?cm=var&var=hg19,9,139874677,C,A&fts=all		hmmpanther:PTHR11430:SF64,hmmpanther:PTHR11430,Pfam_domain:PF00061,Gene3D:2.40.128.20,Superfamily_domains:SSF50814,Prints_domain:PR01254		T/N		A	low	565/807		getma.org/?cm=msa&ty=f&p=PTGDS_HUMAN&rb=40&re=184&var=T164N	tolerated(0.05)				YES	PTGDS,missense_variant,p.Thr198Asn,ENST00000224167,;PTGDS,missense_variant,p.Thr164Asn,ENST00000371625,NM_000954.5;PTGDS,missense_variant,p.Thr187Asn,ENST00000446677,;LCNL1,upstream_gene_variant,,ENST00000408973,NM_207510.3;PTGDS,downstream_gene_variant,,ENST00000371623,;PTGDS,downstream_gene_variant,,ENST00000457950,;PTGDS,upstream_gene_variant,,ENST00000444903,;PTGDS,non_coding_transcript_exon_variant,,ENST00000462514,;PTGDS,non_coding_transcript_exon_variant,,ENST00000492068,;LCNL1,upstream_gene_variant,,ENST00000432827,;RP11-229P13.19,downstream_gene_variant,,ENST00000413913,;PTGDS,downstream_gene_variant,,ENST00000460340,;PTGDS,upstream_gene_variant,,ENST00000467871,;PTGDS,missense_variant,p.Thr164Asn,ENST00000471521,;LCNL1,upstream_gene_variant,,ENST00000482657,;LCNL1,upstream_gene_variant,,ENST00000460177,;							MODERATE	491/573	T164N	PTGDS_HUMAN			Transcript		possibly_damaging(0.547)	.	ENSP00000360687		CCDS7019.1			1	
SRSF9	0	LGGM	GRCh37	12	120903502	120903502	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	18	14	.	.	ENST00000229390.3:c.277C>A	p.Arg93=	p.R93=	ENST00000229390	NM_003769.2	93	Cgg/Agg	0	1	1	UPI00001358C4	0		ENST00000229390		ENSG00000111786	10791		32			HGNC	p.R93R		SRSF9		SNV							ENST00000229390	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10548:SF9,hmmpanther:PTHR10548,Gene3D:3.30.70.330,Superfamily_domains:SSF54928		R		T		461/1201							YES	SRSF9,synonymous_variant,p.=,ENST00000229390,NM_003769.2;SRSF9,intron_variant,,ENST00000550458,;GATC,downstream_gene_variant,,ENST00000551765,NM_176818.2;DYNLL1,upstream_gene_variant,,ENST00000392509,NM_001037494.1;DYNLL1,upstream_gene_variant,,ENST00000549649,;DYNLL1,upstream_gene_variant,,ENST00000548342,;SRSF9,synonymous_variant,p.=,ENST00000603963,;SRSF9,non_coding_transcript_exon_variant,,ENST00000546942,;SRSF9,upstream_gene_variant,,ENST00000548326,;SRSF9,upstream_gene_variant,,ENST00000548792,;							LOW	277/666		SRSF9_HUMAN			Transcript			.	ENSP00000229390		CCDS9199.1			1	
PIWIL3	0	LGGM	GRCh37	22	25120902	25120902	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	16	14	.	.	ENST00000332271.5:c.2210A>T	p.His737Leu	p.H737L	ENST00000332271	NM_001255975.1	737	cAt/cTt	0	1	1	UPI00002073D6	0	getma.org/pdb.php?prot=PIWL3_HUMAN&from=578&to=868&var=H737L	ENST00000332271		ENSG00000184571	18443	8.72E-05	30	1.64		HGNC	p.H737L	rs769688948	PIWIL3		SNV							ENST00000332271	protein_coding	getma.org/?cm=var&var=hg19,22,25120902,T,A&fts=all		PROSITE_profiles:PS50822,hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098		H/L		A	low	2627/3504		getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=578&re=868&var=H737L	deleterious(0.01)				YES	PIWIL3,missense_variant,p.His737Leu,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,missense_variant,p.His619Leu,ENST00000533313,;PIWIL3,missense_variant,p.His619Leu,ENST00000527701,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;							MODERATE	2210/2649	H737L	PIWL3_HUMAN			Transcript		benign(0.136)	.	ENSP00000330031	8.24E-06	CCDS33623.1			1	
CRAT	0	LGGM	GRCh37	9	131860882	131860882	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	41	14	.	.	ENST00000318080.2:c.1133C>T	p.Pro378Leu	p.P378L	ENST00000318080	NM_001257363.1	378	cCc/cTc	0	1	1	UPI000014021A	0	getma.org/pdb.php?prot=CACP_HUMAN&from=34&to=616&var=P378L	ENST00000318080		ENSG00000095321	2342		55	3.03		HGNC	p.P378L		CRAT		SNV							ENST00000318080	protein_coding	getma.org/?cm=var&var=hg19,9,131860882,G,A&fts=all		Pfam_domain:PF00755,hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF50,Superfamily_domains:SSF52777		P/L		A	medium	1428/2763		getma.org/?cm=msa&ty=f&p=CACP_HUMAN&rb=34&re=616&var=P378L	deleterious(0)				YES	CRAT,missense_variant,p.Pro378Leu,ENST00000318080,NM_001257363.1,NM_000755.3;CRAT,upstream_gene_variant,,ENST00000455396,;RP11-247A12.1,intron_variant,,ENST00000434250,;CRAT,downstream_gene_variant,,ENST00000464290,;CRAT,upstream_gene_variant,,ENST00000467343,;CRAT,3_prime_UTR_variant,,ENST00000458362,;CRAT,downstream_gene_variant,,ENST00000415948,;							MODERATE	1133/1881	P378L	CACP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315013		CCDS6919.1			1	
KLHL28	0	LGGM	GRCh37	14	45403342	45403342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	21	15	.	.	ENST00000396128.4:c.1319G>T	p.Gly440Val	p.G440V	ENST00000396128	NM_017658.3	440	gGg/gTg	0	1	1	UPI00001FD46D	0	getma.org/pdb.php?prot=KLH28_HUMAN&from=422&to=466&var=G440V	ENST00000396128		ENSG00000179454	19741		36	4.635		HGNC	p.G440V		KLHL28		SNV							ENST00000396128	protein_coding	getma.org/?cm=var&var=hg19,14,45403342,C,A&fts=all		Superfamily_domains:0047741,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF30,SMART_domains:SM00612		G/V		A	high	1439/6545		getma.org/?cm=msa&ty=f&p=KLH28_HUMAN&rb=422&re=466&var=G440V	deleterious(0)	J3KRJ0_HUMAN,G3V5Y9_HUMAN,G3V4Y0_HUMAN,G3V2P9_HUMAN			YES	KLHL28,missense_variant,p.Gly440Val,ENST00000396128,NM_017658.3;KLHL28,missense_variant,p.Gly454Val,ENST00000355081,;							MODERATE	1319/1716	G440V	KLH28_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379434		CCDS9680.1			1	
TLE2	0	LGGM	GRCh37	19	3017851	3017851	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	17	15	.	.	ENST00000262953.6:c.557G>T	p.Arg186Ile	p.R186I	ENST00000262953	NM_003260.4	186	aGa/aTa	0	1	1	UPI0000137038	0	NA	ENST00000262953		ENSG00000065717	11838		32	1.83		HGNC	p.R200I		TLE2		SNV							ENST00000591529	protein_coding	getma.org/?cm=var&var=hg19,19,3017851,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10814:SF4,hmmpanther:PTHR10814		R/I		A	low	820/2705		getma.org/?cm=msa&ty=f&p=TLE2_HUMAN&rb=133&re=332&var=R186I	deleterious(0.04)				YES	TLE2,missense_variant,p.Arg186Ile,ENST00000262953,NM_003260.4;TLE2,missense_variant,p.Arg200Ile,ENST00000591529,NM_001144761.1;TLE2,missense_variant,p.Arg187Ile,ENST00000590536,;TLE2,missense_variant,p.Arg200Ile,ENST00000426948,;TLE2,5_prime_UTR_variant,,ENST00000447365,;TLE2,intron_variant,,ENST00000455444,;TLE2,intron_variant,,ENST00000443826,NM_001144762.1;TLE2,intron_variant,,ENST00000589364,;TLE2,intron_variant,,ENST00000587137,;TLE2,intron_variant,,ENST00000591457,;TLE2,intron_variant,,ENST00000586422,;TLE2,downstream_gene_variant,,ENST00000592584,;TLE2,non_coding_transcript_exon_variant,,ENST00000587217,;TLE2,non_coding_transcript_exon_variant,,ENST00000589291,;TLE2,non_coding_transcript_exon_variant,,ENST00000590183,;TLE2,intron_variant,,ENST00000589205,;TLE2,non_coding_transcript_exon_variant,,ENST00000590101,;TLE2,intron_variant,,ENST00000587672,;TLE2,downstream_gene_variant,,ENST00000592305,;TLE2,downstream_gene_variant,,ENST00000587770,;TLE2,downstream_gene_variant,,ENST00000591720,;TLE2,downstream_gene_variant,,ENST00000587893,;							MODERATE	557/2232	R186I	TLE2_HUMAN			Transcript		benign(0.021)	.	ENSP00000262953		CCDS45911.1			1	
NELFCD	0	LGGM	GRCh37	20	57568691	57568691	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	29	15	.	.	ENST00000602795.1:c.1507A>G	p.Lys503Glu	p.K503E	ENST00000602795	NM_198976.2	503	Aag/Gag	0	1	1	UPI0000D4E339	0	NA	ENST00000602795		ENSG00000101158	15934		44	2.825		HGNC	p.K494E		NELFCD		SNV							ENST00000344018	protein_coding	getma.org/?cm=var&var=hg19,20,57568691,A,G&fts=all		hmmpanther:PTHR12144,hmmpanther:PTHR12144:SF0,Pfam_domain:PF04858		K/E		G	medium	1555/2305		getma.org/?cm=msa&ty=f&p=NELFD_HUMAN&rb=10&re=589&var=K494E	deleterious(0)	H0UI80_HUMAN			YES	NELFCD,missense_variant,p.Lys503Glu,ENST00000602795,NM_198976.2;NELFCD,missense_variant,p.Lys494Glu,ENST00000344018,;CTSZ,downstream_gene_variant,,ENST00000217131,NM_001336.3;NELFCD,non_coding_transcript_exon_variant,,ENST00000479207,;NELFCD,downstream_gene_variant,,ENST00000497935,;NELFCD,missense_variant,p.Lys497Glu,ENST00000460601,;NELFCD,non_coding_transcript_exon_variant,,ENST00000478389,;NELFCD,non_coding_transcript_exon_variant,,ENST00000477741,;NELFCD,non_coding_transcript_exon_variant,,ENST00000474543,;NELFCD,downstream_gene_variant,,ENST00000482747,;CTSZ,downstream_gene_variant,,ENST00000503833,;NELFCD,upstream_gene_variant,,ENST00000486263,;NELFCD,downstream_gene_variant,,ENST00000490205,;CTSZ,downstream_gene_variant,,ENST00000488395,;							MODERATE	1507/1800	K494E				Transcript		possibly_damaging(0.674)	.	ENSP00000473290		CCDS13473.2			1	
FGFR2	0	LGGM	GRCh37	10	123274800	123274800	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	28	17	.	.	ENST00000358487.5:c.1118C>G	p.Pro373Arg	p.P373R	ENST00000358487	NM_000141.4	373	cCa/cGa	0	1		UPI000012A72A	0	NA	ENST00000358487		ENSG00000066468	3689		45	2.28		HGNC	p.P259R		FGFR2		SNV			1				ENST00000369059	protein_coding	getma.org/?cm=var&var=hg19,10,123274800,G,C&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF130,PIRSF_domain:PIRSF000628		P/R		C	medium	1391/4255		getma.org/?cm=msa&ty=f&p=FGFR2_HUMAN&rb=360&re=480&var=P373R	deleterious(0.04)	Q9UMA9_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN				FGFR2,missense_variant,p.Pro373Arg,ENST00000358487,NM_000141.4;FGFR2,missense_variant,p.Pro145Arg,ENST00000478859,;FGFR2,missense_variant,p.Pro261Arg,ENST00000369061,NM_001144914.1;FGFR2,missense_variant,p.Pro284Arg,ENST00000357555,NM_023029.2,NM_001144915.1;FGFR2,missense_variant,p.Pro258Arg,ENST00000356226,NM_001144918.1,NM_001144916.1;FGFR2,missense_variant,p.Pro374Arg,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Pro373Arg,ENST00000351936,;FGFR2,missense_variant,p.Pro259Arg,ENST00000369059,;FGFR2,missense_variant,p.Pro285Arg,ENST00000360144,NM_001144919.1;FGFR2,missense_variant,p.Pro374Arg,ENST00000369058,;FGFR2,missense_variant,p.Pro374Arg,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Pro284Arg,ENST00000336553,;FGFR2,missense_variant,p.Pro373Arg,ENST00000346997,;FGFR2,intron_variant,,ENST00000369060,NM_001144917.1;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,non_coding_transcript_exon_variant,,ENST00000463870,;FGFR2,downstream_gene_variant,,ENST00000490349,;FGFR2,3_prime_UTR_variant,,ENST00000604236,;							MODERATE	1118/2466	P373R	FGFR2_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000351276		CCDS31298.1			1	
ARHGEF28	0	LGGM	GRCh37	5	73144843	73144843	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	11	17	.	.	ENST00000545377.1:c.1678T>G	p.Ser560Ala	p.S560A	ENST00000545377	NM_001080479.2	560	Tca/Gca	0	1		UPI0001AE73FF	0	NA	ENST00000426542		ENSG00000214944	30322		28	2.045		HGNC	p.S560A		ARHGEF28		SNV							ENST00000296794	protein_coding	getma.org/?cm=var&var=hg19,5,73144843,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4		S/A		G	medium	1698/6118		getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=401&re=600&var=S560A	deleterious(0)	D6RAP0_HUMAN				ARHGEF28,missense_variant,p.Ser560Ala,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Ser560Ala,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Ser560Ala,ENST00000287898,;ARHGEF28,missense_variant,p.Ser560Ala,ENST00000426542,;ARHGEF28,missense_variant,p.Ser560Ala,ENST00000437974,;ARHGEF28,missense_variant,p.Ser560Ala,ENST00000296794,;ARHGEF28,missense_variant,p.Ser247Ala,ENST00000296799,NM_001244364.1;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000513841,;							MODERATE	1678/5118	S560A	ARG28_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000412175		CCDS54870.1			1	
OR8K5	0	LGGM	GRCh37	11	55927330	55927330	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	47	17	.	.	ENST00000313447.1:c.464A>G	p.Gln155Arg	p.Q155R	ENST00000313447	NM_001004058.2	155	cAg/cGg	0	1	1	UPI000004B231	0	NA	ENST00000313447		ENSG00000181752	15315		64	1.04		HGNC	p.Q155R		OR8K5		SNV							ENST00000313447	protein_coding	getma.org/?cm=var&var=hg19,11,55927330,T,C&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,PROSITE_profiles:PS50262		Q/R		C	low	464/924		getma.org/?cm=msa&ty=f&p=OR8K5_HUMAN&rb=139&re=283&var=Q155R	deleterious_low_confidence(0)				YES	OR8K5,missense_variant,p.Gln155Arg,ENST00000313447,NM_001004058.2;							MODERATE	464/924	Q155R	OR8K5_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000323853		CCDS31521.1			1	
ZBTB49	0	LGGM	GRCh37	4	4304605	4304605	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	17	17	.	.	ENST00000337872.4:c.1042del	p.Ala348LeufsTer147	p.A348Lfs*147	ENST00000337872	NM_145291.3	348	Gct/ct	0	1	1	UPI000022C559	0		ENST00000337872		ENSG00000168826	19883		34			HGNC	p.A348fs		ZBTB49		deletion							ENST00000355834	protein_coding			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF104,Low_complexity_(Seg):seg		A/X		-		1163/2889				Q32MK9_HUMAN,D6RJ00_HUMAN			YES	ZBTB49,frameshift_variant,p.Ala348LeufsTer147,ENST00000337872,NM_145291.3;ZBTB49,frameshift_variant,p.Ala348LeufsTer154,ENST00000355834,;ZBTB49,frameshift_variant,p.Ala85LeufsTer?,ENST00000504302,;ZBTB49,5_prime_UTR_variant,,ENST00000538529,;ZBTB49,downstream_gene_variant,,ENST00000502918,;ZBTB49,frameshift_variant,p.Ala348LeufsTer94,ENST00000515012,;ZBTB49,frameshift_variant,p.Ala50LeufsTer104,ENST00000511458,;ZBTB49,3_prime_UTR_variant,,ENST00000503703,;							HIGH	1042/2298		ZBT49_HUMAN			Transcript			.	ENSP00000338807		CCDS3375.1			1	
ASTL	0	LGGM	GRCh37	2	96803404	96803404	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	23	17	.	.	ENST00000342380.2:c.91G>A	p.Ala31Thr	p.A31T	ENST00000342380	NM_001002036.3	31	Gca/Aca	0	1	1	UPI0000161978	0	NA	ENST00000342380		ENSG00000188886	31704		40	0.345		HGNC	p.A31T	rs753631127	ASTL	0.000121	SNV							ENST00000342380	protein_coding	getma.org/?cm=var&var=hg19,2,96803404,C,T&fts=all				A/T		T	neutral	91/1296		getma.org/?cm=msa&ty=f&p=ASTL_HUMAN&rb=1&re=91&var=A31T	tolerated(0.06)				YES	ASTL,missense_variant,p.Ala31Thr,ENST00000342380,NM_001002036.3;ASTL,non_coding_transcript_exon_variant,,ENST00000470582,;							MODERATE	91/1296	A31T	ASTL_HUMAN			Transcript		benign(0.038)	.	ENSP00000343674	1.65E-05	CCDS33249.1			1	
NRAP	0	LGGM	GRCh37	10	115348798	115348798	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	64	19	.	.	ENST00000359988.3:c.5129G>A	p.Gly1710Glu	p.G1710E	ENST00000359988	NM_001261463.1	1710	gGg/gAg	0	1	1	UPI00001F9739	0	NA	ENST00000359988		ENSG00000197893	7988		83	0.06		HGNC	p.G1683E		NRAP		SNV							ENST00000369360	protein_coding	getma.org/?cm=var&var=hg19,10,115348798,C,T&fts=all		hmmpanther:PTHR11039		G/E		T	neutral	5374/5580		getma.org/?cm=msa&ty=f&p=NRAP_HUMAN&rb=1665&re=1730&var=G1710E	tolerated_low_confidence(1)				YES	NRAP,missense_variant,p.Gly1718Glu,ENST00000369358,;NRAP,missense_variant,p.Gly1710Glu,ENST00000359988,NM_001261463.1,NM_198060.3;NRAP,missense_variant,p.Gly1683Glu,ENST00000369360,;NRAP,missense_variant,p.Gly1675Glu,ENST00000360478,NM_006175.4;HABP2,3_prime_UTR_variant,,ENST00000351270,NM_004132.3;HABP2,3_prime_UTR_variant,,ENST00000542051,NM_001177660.1;							MODERATE	5129/5193	G1710E	NRAP_HUMAN			Transcript		benign(0.003)	.	ENSP00000353078		CCDS7579.1			1	
PCP4	0	LGGM	GRCh37	21	41301018	41301018	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	7	20	.	.	ENST00000328619.5:c.171G>T	p.Lys57Asn	p.K57N	ENST00000328619	NM_006198.2	57	aaG/aaT	0	1	1	UPI00001697DE	0		ENST00000328619		ENSG00000183036	8742		27			HGNC	p.K57N		PCP4		SNV							ENST00000328619	protein_coding			hmmpanther:PTHR15359:SF7,hmmpanther:PTHR15359		K/N		T		356/660			deleterious(0)				YES	PCP4,missense_variant,p.Lys57Asn,ENST00000328619,NM_006198.2;PCP4,non_coding_transcript_exon_variant,,ENST00000468717,;PCP4,non_coding_transcript_exon_variant,,ENST00000467565,;PCP4,3_prime_UTR_variant,,ENST00000462224,;							MODERATE	171/189		PCP4_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000329403		CCDS33563.1			1	
MARCH8	0	LGGM	GRCh37	10	45953716	45953716	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	28	20	.	.	ENST00000395771.3:c.847G>A	p.Asp283Asn	p.D283N	ENST00000395771	NM_001002265.1	283	Gac/Aac	0	1		UPI000013E4A0	0	NA	ENST00000319836		ENSG00000165406	23356		48	1.39		HGNC	p.D283N		MARCH8		SNV							ENST00000319836	protein_coding	getma.org/?cm=var&var=hg19,10,45953716,C,T&fts=all		hmmpanther:PTHR23012:SF60,hmmpanther:PTHR23012		D/N		T	low	1597/2496		getma.org/?cm=msa&ty=f&p=MARH8_HUMAN&rb=142&re=289&var=D283N	tolerated_low_confidence(0.07)					MARCH8,missense_variant,p.Asp565Asn,ENST00000453424,NM_001282866.1;MARCH8,missense_variant,p.Asp283Asn,ENST00000395771,NM_001002265.1;MARCH8,missense_variant,p.Asp283Asn,ENST00000319836,NM_145021.4;MARCH8,missense_variant,p.Asp283Asn,ENST00000395769,NM_001002266.1;MARCH8,downstream_gene_variant,,ENST00000453980,;MARCH8,non_coding_transcript_exon_variant,,ENST00000476962,;MARCH8,downstream_gene_variant,,ENST00000602712,;							MODERATE	847/876	D283N	MARH8_HUMAN			Transcript		benign(0.131)	.	ENSP00000317087		CCDS7213.1			1	
VTCN1	0	LGGM	GRCh37	1	117695956	117695956	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	26	21	.	.	ENST00000369458.3:c.481G>A	p.Ala161Thr	p.A161T	ENST00000369458	NM_024626.3	161	Gcc/Acc	0	1	1	UPI00000389E3	0	NA	ENST00000369458		ENSG00000134258	28873		47	0		HGNC	p.A66T		VTCN1		SNV							ENST00000539893	protein_coding	getma.org/?cm=var&var=hg19,1,117695956,C,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0		A/T		T	neutral	560/2612		getma.org/?cm=msa&ty=f&p=VTCN1_HUMAN&rb=150&re=229&var=A161T	tolerated(0.27)				YES	VTCN1,missense_variant,p.Ala161Thr,ENST00000369458,NM_024626.3;VTCN1,missense_variant,p.Ala164Thr,ENST00000359008,;VTCN1,missense_variant,p.Ala45Thr,ENST00000328189,NM_001253850.1;VTCN1,missense_variant,p.Ala66Thr,ENST00000539893,NM_001253849.1;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,downstream_gene_variant,,ENST00000488493,;							MODERATE	481/849	A161T	VTCN1_HUMAN			Transcript		benign(0.439)	.	ENSP00000358470		CCDS894.1			1	
NBEA	0	LGGM	GRCh37	13	35782955	35782955	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	31	22	.	.	ENST00000400445.3:c.5485A>T	p.Thr1829Ser	p.T1829S	ENST00000400445	NM_015678.4	1829	Act/Tct	0	1	1	UPI00004FF92F	0	NA	ENST00000400445		ENSG00000172915	7648		53	-0.14		HGNC	p.T1829S		NBEA		SNV							ENST00000310336	protein_coding	getma.org/?cm=var&var=hg19,13,35782955,A,T&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743		T/S		T	neutral	6019/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=1804&re=1965&var=T1829S	tolerated(0.65)				YES	NBEA,missense_variant,p.Thr1829Ser,ENST00000540320,;NBEA,missense_variant,p.Thr1829Ser,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Thr1829Ser,ENST00000310336,;NBEA,missense_variant,p.Thr1826Ser,ENST00000379939,;							MODERATE	5485/8841	T1829S	NBEA_HUMAN			Transcript		benign(0.001)	.	ENSP00000383295		CCDS45026.1			1	
CALD1	0	LGGM	GRCh37	7	134617966	134617966	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	29	22	.	.	ENST00000361675.2:c.446A>G	p.Lys149Arg	p.K149R	ENST00000361675		149	aAg/aGg	0	1	1	UPI0000140A64	0	NA	ENST00000361675		ENSG00000122786	1441		51	2.175		HGNC	p.K149R	rs781775965	CALD1		SNV							ENST00000361901	protein_coding	getma.org/?cm=var&var=hg19,7,134617966,A,G&fts=all		Pfam_domain:PF02029,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0,Low_complexity_(Seg):seg		K/R		G	medium	675/3612	1.66E-05	getma.org/?cm=msa&ty=f&p=CALD1_HUMAN&rb=31&re=362&var=K149R	deleterious(0.02)	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN			YES	CALD1,missense_variant,p.Lys149Arg,ENST00000361388,NM_033138.3,NM_033157.3;CALD1,missense_variant,p.Lys143Arg,ENST00000393118,NM_033140.3,NM_033139.3;CALD1,missense_variant,p.Lys149Arg,ENST00000361901,NM_004342.6;CALD1,missense_variant,p.Lys149Arg,ENST00000361675,;CALD1,missense_variant,p.Lys149Arg,ENST00000422748,;CALD1,missense_variant,p.Lys143Arg,ENST00000495522,;CALD1,missense_variant,p.Lys143Arg,ENST00000424922,;CALD1,missense_variant,p.Lys154Arg,ENST00000543443,;CALD1,missense_variant,p.Lys149Arg,ENST00000417172,;CALD1,missense_variant,p.Lys149Arg,ENST00000436461,;CALD1,downstream_gene_variant,,ENST00000454108,;CALD1,downstream_gene_variant,,ENST00000445569,;CALD1,downstream_gene_variant,,ENST00000435928,;CALD1,non_coding_transcript_exon_variant,,ENST00000496024,;CALD1,missense_variant,p.Lys143Arg,ENST00000443197,;CALD1,missense_variant,p.Arg73Gly,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;							MODERATE	446/2382	K149R	CALD1_HUMAN			Transcript		unknown(0)	.	ENSP00000354826	8.24E-06	CCDS5835.1			1	
SON	0	LGGM	GRCh37	21	34918533	34918533	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	8	23	.	.	ENST00000356577.4:c.92G>T	p.Gly31Val	p.G31V	ENST00000356577	NM_138927.2	31	gGc/gTc	0	1	1	UPI0000140BFD	0	NA	ENST00000356577		ENSG00000159140	11183		31	0.895		HGNC	p.G31V		SON		SNV							ENST00000290239	protein_coding	getma.org/?cm=var&var=hg19,21,34918533,G,T&fts=all		hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813		G/V		T	low	567/8813		getma.org/?cm=msa&ty=f&p=SON_HUMAN&rb=1&re=200&var=G31V					YES	SON,missense_variant,p.Gly31Val,ENST00000356577,NM_138927.2;SON,missense_variant,p.Gly31Val,ENST00000290239,;SON,missense_variant,p.Gly31Val,ENST00000381679,;SON,missense_variant,p.Gly31Val,ENST00000300278,NM_032195.2;SON,missense_variant,p.Gly31Val,ENST00000381692,;GART,upstream_gene_variant,,ENST00000381831,NM_001136005.1;GART,upstream_gene_variant,,ENST00000381839,NM_001136006.1;GART,upstream_gene_variant,,ENST00000381815,NM_000819.4;GART,upstream_gene_variant,,ENST00000361093,NM_175085.2;GART,upstream_gene_variant,,ENST00000430874,;GART,upstream_gene_variant,,ENST00000426819,;GART,upstream_gene_variant,,ENST00000441403,;GART,upstream_gene_variant,,ENST00000438059,;SON,non_coding_transcript_exon_variant,,ENST00000492229,;SON,missense_variant,p.Gly31Val,ENST00000455528,;SON,non_coding_transcript_exon_variant,,ENST00000475072,;GART,upstream_gene_variant,,ENST00000424203,;GART,upstream_gene_variant,,ENST00000476524,;							MODERATE	92/7281	G31V	SON_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000348984		CCDS13629.1			1	
AHDC1	0	LGGM	GRCh37	1	27876738	27876738	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	32	23	.	.	ENST00000374011.2:c.1889G>T	p.Gly630Val	p.G630V	ENST00000374011	NM_001029882.2	630	gGa/gTa	0	1		UPI0000418EA1	0	NA	ENST00000247087		ENSG00000126705	25230		55	0.205		HGNC	p.G630V		AHDC1		SNV			1				ENST00000374011	protein_coding	getma.org/?cm=var&var=hg19,1,27876738,C,A&fts=all		hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1		G/V		A	neutral	2486/6334		getma.org/?cm=msa&ty=f&p=AHDC1_HUMAN&rb=371&re=659&var=G630V	deleterious(0.01)					AHDC1,missense_variant,p.Gly630Val,ENST00000374011,NM_001029882.2;AHDC1,missense_variant,p.Gly630Val,ENST00000247087,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;							MODERATE	1889/4812	G630V	AHDC1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000247087		CCDS30652.1			1	
LRRC8C	0	LGGM	GRCh37	1	90178863	90178863	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	45	23	.	.	ENST00000370454.4:c.734T>C	p.Val245Ala	p.V245A	ENST00000370454	NM_032270.4	245	gTg/gCg	0	1	1	UPI000013E814	0	NA	ENST00000370454		ENSG00000171488	25075		68	2.44		HGNC	p.V245A		LRRC8C		SNV							ENST00000370454	protein_coding	getma.org/?cm=var&var=hg19,1,90178863,T,C&fts=all		hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF415		V/A		C	medium	989/7218		getma.org/?cm=msa&ty=f&p=LRC8C_HUMAN&rb=159&re=358&var=V245A	deleterious(0.04)				YES	LRRC8C,missense_variant,p.Val245Ala,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,;							MODERATE	734/2412	V245A	LRC8C_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000359483		CCDS725.1			1	
SMARCAL1	0	LGGM	GRCh37	2	217279494	217279494	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	118	23	.	.	ENST00000357276.4:c.67C>T	p.Arg23Cys	p.R23C	ENST00000357276	NM_014140.3	23	Cgc/Tgc	0	1	1	UPI000000DA30	0	NA	ENST00000357276		ENSG00000138375	11102		141	0.805		HGNC	p.R23C	rs753690688,COSM1016228	SMARCAL1		SNV			1	9.92E-05		0,1	ENST00000430374	protein_coding	getma.org/?cm=var&var=hg19,2,217279494,C,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799		R/C		T	low	397/3271		getma.org/?cm=msa&ty=f&p=SMAL1_HUMAN&rb=1&re=32&var=R23C	deleterious(0)	C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN			YES	SMARCAL1,missense_variant,p.Arg23Cys,ENST00000357276,NM_014140.3;SMARCAL1,missense_variant,p.Arg23Cys,ENST00000358207,NM_001127207.1;SMARCAL1,missense_variant,p.Arg23Cys,ENST00000430374,;SMARCAL1,missense_variant,p.Arg23Cys,ENST00000444508,;SMARCAL1,missense_variant,p.Arg23Cys,ENST00000434435,;SMARCAL1,upstream_gene_variant,,ENST00000392128,;SMARCAL1,upstream_gene_variant,,ENST00000427645,;SMARCAL1,upstream_gene_variant,,ENST00000412913,;SMARCAL1,downstream_gene_variant,,ENST00000425815,;AC098820.2,upstream_gene_variant,,ENST00000457694,;SMARCAL1,downstream_gene_variant,,ENST00000496037,;					0,1		MODERATE	67/2865	R23C	SMAL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349823	8.24E-06	CCDS2403.1			1	
PZP	0	LGGM	GRCh37	12	9317937	9317937	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	50	23	.	.	ENST00000261336.2:c.2285T>A	p.Val762Glu	p.V762E	ENST00000261336	NM_002864.2	762	gTa/gAa	0	1	1	UPI000013D168	0	getma.org/pdb.php?prot=PZP_HUMAN&from=744&to=834&var=V762E	ENST00000261336		ENSG00000126838	9750		73	1.95		HGNC	p.V631E		PZP		SNV							ENST00000381997	protein_coding	getma.org/?cm=var&var=hg19,12,9317937,A,T&fts=all		Pfam_domain:PF00207,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87		V/E		T	medium	2314/4610		getma.org/?cm=msa&ty=f&p=PZP_HUMAN&rb=744&re=834&var=V762E	deleterious(0)				YES	PZP,missense_variant,p.Val762Glu,ENST00000261336,NM_002864.2;PZP,missense_variant,p.Val631Glu,ENST00000381997,;PZP,non_coding_transcript_exon_variant,,ENST00000539983,;PZP,non_coding_transcript_exon_variant,,ENST00000546197,;PZP,non_coding_transcript_exon_variant,,ENST00000543108,;PZP,non_coding_transcript_exon_variant,,ENST00000540995,;PZP,downstream_gene_variant,,ENST00000546116,;PZP,3_prime_UTR_variant,,ENST00000535230,;							MODERATE	2285/4449	V762E	PZP_HUMAN			Transcript		benign(0.38)	.	ENSP00000261336		CCDS8600.1			1	
MYO1B	0	LGGM	GRCh37	2	192273806	192273806	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	36	23	.	.	ENST00000392318.3:c.2668C>T	p.Pro890Ser	p.P890S	ENST00000392318	NM_001130158.1	890	Cct/Tct	0	1		UPI00001A9466	0	NA	ENST00000304164		ENSG00000128641	7596		59	1.845		HGNC	p.P832S		MYO1B		SNV							ENST00000339514	protein_coding	getma.org/?cm=var&var=hg19,2,192273806,C,T&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF277		P/S		T	low	2761/4933		getma.org/?cm=msa&ty=f&p=MYO1B_HUMAN&rb=772&re=939&var=P890S	deleterious(0)	Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN				MYO1B,missense_variant,p.Pro890Ser,ENST00000392318,NM_001130158.1;MYO1B,missense_variant,p.Pro832Ser,ENST00000339514,NM_012223.3;MYO1B,missense_variant,p.Pro890Ser,ENST00000304164,NM_001161819.1;MYO1B,missense_variant,p.Pro861Ser,ENST00000392316,;MYO1B,missense_variant,p.Pro135Ser,ENST00000439065,;MYO1B,upstream_gene_variant,,ENST00000427152,;MYO1B,non_coding_transcript_exon_variant,,ENST00000490069,;MYO1B,downstream_gene_variant,,ENST00000461714,;							MODERATE	2668/3411	P890S	MYO1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306382		CCDS46477.1			1	
CCDC78	0	LGGM	GRCh37	16	775103	775103	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	20	24	.	.	ENST00000293889.6:c.535C>A	p.Arg179=	p.R179=	ENST00000293889	NM_001031737.2	179	Cgg/Agg	0	1	1	UPI00004568E2	0		ENST00000293889		ENSG00000162004	14153		44			HGNC	p.R28R		CCDC78		SNV			1				ENST00000423653	protein_coding			hmmpanther:PTHR22106:SF5,hmmpanther:PTHR22106		R		T		641/1611				I3L158_HUMAN			YES	CCDC78,synonymous_variant,p.=,ENST00000293889,NM_001031737.2;CCDC78,synonymous_variant,p.=,ENST00000345165,;CCDC78,synonymous_variant,p.=,ENST00000423653,;NARFL,downstream_gene_variant,,ENST00000540986,;NARFL,downstream_gene_variant,,ENST00000568545,;NARFL,downstream_gene_variant,,ENST00000251588,NM_022493.1;HAGHL,upstream_gene_variant,,ENST00000549114,;HAGHL,upstream_gene_variant,,ENST00000341413,;HAGHL,upstream_gene_variant,,ENST00000564537,;HAGHL,upstream_gene_variant,,ENST00000389703,NM_032304.2;FAM173A,downstream_gene_variant,,ENST00000564000,;FAM173A,downstream_gene_variant,,ENST00000569529,NM_023933.2;HAGHL,upstream_gene_variant,,ENST00000561546,;FAM173A,downstream_gene_variant,,ENST00000219535,NM_001271285.1;HAGHL,upstream_gene_variant,,ENST00000568141,;HAGHL,upstream_gene_variant,,ENST00000567414,;HAGHL,upstream_gene_variant,,ENST00000564545,;HAGHL,upstream_gene_variant,,ENST00000562141,;HAGHL,upstream_gene_variant,,ENST00000563792,;FAM173A,downstream_gene_variant,,ENST00000568916,;HAGHL,upstream_gene_variant,,ENST00000562187,;HAGHL,upstream_gene_variant,,ENST00000563156,;CCDC78,non_coding_transcript_exon_variant,,ENST00000482878,;CCDC78,non_coding_transcript_exon_variant,,ENST00000481804,;CCDC78,non_coding_transcript_exon_variant,,ENST00000478979,;CCDC78,non_coding_transcript_exon_variant,,ENST00000466708,;CCDC78,non_coding_transcript_exon_variant,,ENST00000463539,;CCDC78,non_coding_transcript_exon_variant,,ENST00000485091,;CCDC78,non_coding_transcript_exon_variant,,ENST00000538176,;CCDC78,non_coding_transcript_exon_variant,,ENST00000439619,;CCDC78,non_coding_transcript_exon_variant,,ENST00000460023,;CCDC78,non_coding_transcript_exon_variant,,ENST00000471861,;CCDC78,non_coding_transcript_exon_variant,,ENST00000544996,;NARFL,downstream_gene_variant,,ENST00000563051,;NARFL,downstream_gene_variant,,ENST00000566650,;HAGHL,upstream_gene_variant,,ENST00000567696,;NARFL,downstream_gene_variant,,ENST00000565425,;FAM173A,downstream_gene_variant,,ENST00000566525,;HAGHL,upstream_gene_variant,,ENST00000389701,;FAM173A,downstream_gene_variant,,ENST00000564640,;CCDC78,upstream_gene_variant,,ENST00000482152,;FAM173A,downstream_gene_variant,,ENST00000566437,;HAGHL,upstream_gene_variant,,ENST00000561750,;HAGHL,upstream_gene_variant,,ENST00000569143,;CCDC78,downstream_gene_variant,,ENST00000474647,;FAM173A,downstream_gene_variant,,ENST00000570237,;HAGHL,upstream_gene_variant,,ENST00000569385,;HAGHL,upstream_gene_variant,,ENST00000561561,;							LOW	535/1317		CCD78_HUMAN			Transcript			.	ENSP00000293889		CCDS32353.1			1	
AHDC1	0	LGGM	GRCh37	1	27876739	27876739	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	32	24	.	.	ENST00000374011.2:c.1888G>T	p.Gly630Ter	p.G630*	ENST00000374011	NM_001029882.2	630	Gga/Tga	0	1		UPI0000418EA1	0	NA	ENST00000247087		ENSG00000126705	25230		56	0		HGNC	p.G630X		AHDC1		SNV			1				ENST00000374011	protein_coding	getma.org/?cm=var&var=hg19,1,27876739,C,A&fts=all		hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1		G/*		A	NA	2485/6334		NA						AHDC1,stop_gained,p.Gly630Ter,ENST00000374011,NM_001029882.2;AHDC1,stop_gained,p.Gly630Ter,ENST00000247087,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;							HIGH	1888/4812	G630*	AHDC1_HUMAN			Transcript			.	ENSP00000247087		CCDS30652.1			1	
DPYS	0	LGGM	GRCh37	8	105463532	105463532	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	48	25	.	.	ENST00000351513.2:c.365A>T	p.Asp122Val	p.D122V	ENST00000351513	NM_001385.2	122	gAt/gTt	0	1	1	UPI000012986F	0	getma.org/pdb.php?prot=DPYS_HUMAN&from=58&to=407&var=D122V	ENST00000351513		ENSG00000147647	3013		73	2.82		HGNC	p.D122V		DPYS		SNV			1				ENST00000351513	protein_coding	getma.org/?cm=var&var=hg19,8,105463532,T,A&fts=all		hmmpanther:PTHR11647:SF50,hmmpanther:PTHR11647,Pfam_domain:PF01979,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR02033,Superfamily_domains:SSF51556		D/V		A	medium	498/2127		getma.org/?cm=msa&ty=f&p=DPYS_HUMAN&rb=58&re=407&var=D122V	deleterious(0)				YES	DPYS,missense_variant,p.Asp122Val,ENST00000351513,NM_001385.2;DPYS,intron_variant,,ENST00000521573,;							MODERATE	365/1560	D122V	DPYS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276651		CCDS6302.1			1	
ITIH1	0	LGGM	GRCh37	3	52812375	52812375	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H080774	H080774N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	37	25	.	.	ENST00000273283.2:c.158del	p.Ile53ThrfsTer4	p.I53Tfs*4	ENST00000273283	NM_002215.3	53	aTc/ac	0	1	1	UPI000012DA1C	0		ENST00000273283		ENSG00000055957	6166		62			HGNC	p.I53fs		ITIH1		deletion							ENST00000480409	protein_coding			Pfam_domain:PF08487,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF106,SMART_domains:SM00609		I/X		-		182/2911							YES	ITIH1,frameshift_variant,p.Ile53ThrfsTer4,ENST00000273283,NM_002215.3;ITIH1,frameshift_variant,p.Ile53ThrfsTer4,ENST00000542827,;ITIH1,upstream_gene_variant,,ENST00000540715,NM_001166434.2;ITIH1,upstream_gene_variant,,ENST00000537050,NM_001166436.2,NM_001166435.2;ITIH1,upstream_gene_variant,,ENST00000487686,;ITIH1,upstream_gene_variant,,ENST00000478667,;ITIH1,frameshift_variant,p.Ile53ThrfsTer4,ENST00000480409,;ITIH1,upstream_gene_variant,,ENST00000494603,;							HIGH	158/2736		ITIH1_HUMAN			Transcript			.	ENSP00000273283		CCDS2864.1			1	
HEPH	0	LGGM	GRCh37	X	65392424	65392424	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	4	25	.	.	ENST00000519389.1:c.557A>G	p.Tyr186Cys	p.Y186C	ENST00000519389		186	tAc/tGc	0	1		UPI000004D26F	0	getma.org/pdb.php?prot=HEPH_HUMAN&from=80&to=209&var=Y132C	ENST00000343002		ENSG00000089472	4866		29	3.82		HGNC	p.Y135C		HEPH		SNV							ENST00000441993	protein_coding	getma.org/?cm=var&var=hg19,X,65392424,A,G&fts=all		hmmpanther:PTHR10127:SF317,hmmpanther:PTHR10127,Gene3D:2.60.40.420,Pfam_domain:PF07732,Superfamily_domains:SSF49503		Y/C		G	high	1059/4854		getma.org/?cm=msa&ty=f&p=HEPH_HUMAN&rb=80&re=209&var=Y132C	deleterious(0)	Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN				HEPH,missense_variant,p.Tyr186Cys,ENST00000519389,;HEPH,missense_variant,p.Tyr132Cys,ENST00000343002,;HEPH,missense_variant,p.Tyr135Cys,ENST00000374727,NM_138737.3;HEPH,missense_variant,p.Tyr135Cys,ENST00000441993,NM_001130860.2;HEPH,missense_variant,p.Tyr135Cys,ENST00000419594,NM_001282141.1;HEPH,missense_variant,p.Tyr132Cys,ENST00000425114,;HEPH,missense_variant,p.Tyr132Cys,ENST00000458621,;HEPH,5_prime_UTR_variant,,ENST00000336279,NM_014799.2;HEPH,downstream_gene_variant,,ENST00000429547,;							MODERATE	395/3477	Y132C	HEPH_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000343939					1	
EPX	0	LGGM	GRCh37	17	56270762	56270762	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	80	26	.	.	ENST00000225371.5:c.201C>T	p.Ala67=	p.A67=	ENST00000225371	NM_000502.4	67	gcC/gcT	0	1	1	UPI0000131629	0		ENST00000225371		ENSG00000121053	3423		106			HGNC	p.A67A	rs754597061	EPX	0.000242	SNV			1				ENST00000225371	protein_coding			hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49		A		T		311/2708							YES	EPX,synonymous_variant,p.=,ENST00000225371,NM_000502.4;							LOW	201/2148		PERE_HUMAN			Transcript			.	ENSP00000225371	3.29E-05	CCDS11602.1			1	
PCDHB12	0	LGGM	GRCh37	5	140589469	140589469	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	30	27	.	.	ENST00000239450.2:c.990A>T	p.Lys330Asn	p.K330N	ENST00000239450	NM_018932.3	330	aaA/aaT	0	1	1	UPI000000DAFD	0	getma.org/pdb.php?prot=PCDBC_HUMAN&from=247&to=338&var=K330N	ENST00000239450		ENSG00000120328	8683		57	1.105		HGNC	p.K330N		PCDHB12		SNV							ENST00000239450	protein_coding	getma.org/?cm=var&var=hg19,5,140589469,A,T&fts=all		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		K/N		T	low	1179/3406		getma.org/?cm=msa&ty=f&p=PCDBC_HUMAN&rb=247&re=338&var=K330N	deleterious_low_confidence(0.01)	B4DDU1_HUMAN			YES	PCDHB12,missense_variant,p.Lys330Asn,ENST00000239450,NM_018932.3;PCDHB12,5_prime_UTR_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;							MODERATE	990/2388	K330N	PCDBC_HUMAN			Transcript		benign(0.16)	.	ENSP00000239450		CCDS4254.1			1	
PCDHAC2	0	LGGM	GRCh37	5	140347642	140347642	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	20	27	.	.	ENST00000289269.5:c.1291C>T	p.Arg431Trp	p.R431W	ENST00000289269	NM_018899.5	431	Cgg/Tgg	0	1	1	UPI0000127786	0	getma.org/pdb.php?prot=PCDC2_HUMAN&from=372&to=460&var=R431W	ENST00000289269		ENSG00000243232	8677		47	2.315		HGNC	p.R431W	rs781959040,COSM1434084	PCDHAC2	6.06E-05	SNV						0,1	ENST00000289269	protein_coding	getma.org/?cm=var&var=hg19,5,140347642,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF10,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/W		T	medium	1823/5970	1.50E-05	getma.org/?cm=msa&ty=f&p=PCDC2_HUMAN&rb=372&re=460&var=R431W	deleterious(0.01)				YES	PCDHAC2,missense_variant,p.Arg431Trp,ENST00000289269,NM_018899.5,NM_031883.2;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.2,NM_031849.1,NM_031848.2;PCDHAC1,intron_variant,,ENST00000253807,NM_018898.3;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;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;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,;	0.000116				0,1		MODERATE	1291/3024	R431W	PCDC2_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000289269	2.47E-05	CCDS4242.1			1	
ZNF408	0	LGGM	GRCh37	11	46722958	46722958	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	16	28	.	.	ENST00000311764.2:c.62C>G	p.Pro21Arg	p.P21R	ENST00000311764	NM_024741.2	21	cCg/cGg	0	1	1	UPI0000132189	0	NA	ENST00000311764		ENSG00000175213	20041		44	0.55		HGNC	p.P21R		ZNF408		SNV			1				ENST00000311764	protein_coding	getma.org/?cm=var&var=hg19,11,46722958,C,G&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF175		P/R		G	neutral	292/2442		getma.org/?cm=msa&ty=f&p=ZN408_HUMAN&rb=1&re=37&var=P21R	tolerated_low_confidence(0.08)				YES	ZNF408,missense_variant,p.Pro21Arg,ENST00000311764,NM_024741.2,NM_001184751.1;ARHGAP1,upstream_gene_variant,,ENST00000311956,NM_004308.3;ARHGAP1,upstream_gene_variant,,ENST00000525488,;ZNF408,non_coding_transcript_exon_variant,,ENST00000531866,;ZNF408,non_coding_transcript_exon_variant,,ENST00000526410,;ZNF408,non_coding_transcript_exon_variant,,ENST00000534481,;ARHGAP1,upstream_gene_variant,,ENST00000527588,;ARHGAP1,upstream_gene_variant,,ENST00000524594,;ARHGAP1,upstream_gene_variant,,ENST00000529960,;ZNF408,upstream_gene_variant,,ENST00000527008,;							MODERATE	62/2163	P21R	ZN408_HUMAN			Transcript		benign(0.008)	.	ENSP00000309606		CCDS7923.1			1	
RHBDF2	0	LGGM	GRCh37	17	74475195	74475195	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	22	28	.	.	ENST00000313080.4:c.524C>A	p.Thr175Asn	p.T175N	ENST00000313080	NM_024599.5	175	aCt/aAt	0	1	1	UPI0000DBEF0D	0	NA	ENST00000313080		ENSG00000129667	20788		50	2.045		HGNC	p.T175N		RHBDF2		SNV			1				ENST00000592123	protein_coding	getma.org/?cm=var&var=hg19,17,74475195,G,T&fts=all		Pfam_domain:PF12595,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF10		T/N		T	medium	798/3582		getma.org/?cm=msa&ty=f&p=RHDF2_HUMAN&rb=128&re=336&var=T175N	deleterious(0.01)	K7EQT5_HUMAN,K7EPV3_HUMAN,K7ELA9_HUMAN,K7EJ10_HUMAN			YES	RHBDF2,missense_variant,p.Thr146Asn,ENST00000591885,;RHBDF2,missense_variant,p.Thr175Asn,ENST00000313080,NM_024599.5;RHBDF2,missense_variant,p.Thr146Asn,ENST00000389760,NM_001005498.3;RHBDF2,missense_variant,p.Thr175Asn,ENST00000592123,;RHBDF2,downstream_gene_variant,,ENST00000590288,;RHBDF2,downstream_gene_variant,,ENST00000589526,;RHBDF2,downstream_gene_variant,,ENST00000591697,;RHBDF2,downstream_gene_variant,,ENST00000591879,;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,,ENST00000587640,;RHBDF2,non_coding_transcript_exon_variant,,ENST00000589582,;RHBDF2,upstream_gene_variant,,ENST00000590168,;							MODERATE	524/2571	T175N	RHDF2_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000322775		CCDS32743.1			1	
TTC17	0	LGGM	GRCh37	11	43511818	43511818	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	30	30	.	.	ENST00000039989.4:c.3060G>A	p.Met1020Ile	p.M1020I	ENST00000039989	NM_018259.5	1020	atG/atA	0	1	1	UPI000006E6C7	0	NA	ENST00000039989		ENSG00000052841	25596		60	1.455		HGNC	p.M1020I		TTC17		SNV							ENST00000039989	protein_coding	getma.org/?cm=var&var=hg19,11,43511818,G,A&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR16091,SMART_domains:SM00028,Superfamily_domains:SSF48452		M/I		A	low	3074/4469		getma.org/?cm=msa&ty=f&p=TTC17_HUMAN&rb=921&re=1084&var=M1020I	tolerated(0.06)				YES	TTC17,missense_variant,p.Met1020Ile,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Met51Ile,ENST00000418561,;TTC17,non_coding_transcript_exon_variant,,ENST00000525543,;TTC17,non_coding_transcript_exon_variant,,ENST00000525135,;TTC17,non_coding_transcript_exon_variant,,ENST00000529140,;TTC17,upstream_gene_variant,,ENST00000533072,;							MODERATE	3060/3426	M1020I	TTC17_HUMAN			Transcript		benign(0.104)	.	ENSP00000039989		CCDS31466.1			1	
YBX1	0	LGGM	GRCh37	1	43149111	43149111	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	30	30	.	.	ENST00000321358.7:c.204A>C	p.Val68=	p.V68=	ENST00000321358	NM_004559.3	68	gtA/gtC	0	1	1	UPI0000001C6B	0		ENST00000321358		ENSG00000065978	8014		60			HGNC	p.V68V		YBX1		SNV							ENST00000332220	protein_coding			hmmpanther:PTHR11544,Pfam_domain:PF00313,Gene3D:2.40.50.140,SMART_domains:SM00357,Superfamily_domains:SSF50249,Prints_domain:PR00050		V		C		343/1514				A0JLU4_HUMAN			YES	YBX1,synonymous_variant,p.=,ENST00000321358,NM_004559.3;YBX1,synonymous_variant,p.=,ENST00000332220,;YBX1,intron_variant,,ENST00000436427,;RP5-994D16.3,downstream_gene_variant,,ENST00000414339,;YBX1,non_coding_transcript_exon_variant,,ENST00000467957,;							LOW	204/975		YBOX1_HUMAN			Transcript			.	ENSP00000361626		CCDS470.1			1	
KLHL38	0	LGGM	GRCh37	8	124663863	124663863	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	25	37	.	.	ENST00000325995.7:c.1304T>G	p.Leu435Arg	p.L435R	ENST00000325995	NM_001081675.2	435	cTc/cGc	0	1	1	UPI00001D82D1	0	NA	ENST00000325995		ENSG00000175946	34435		62	1.845		HGNC	p.L435R		KLHL38		SNV							ENST00000325995	protein_coding	getma.org/?cm=var&var=hg19,8,124663863,A,C&fts=all		Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412		L/R		C	low	1328/1982		getma.org/?cm=msa&ty=f&p=KLH38_HUMAN&rb=419&re=509&var=L435R	deleterious(0)				YES	KLHL38,missense_variant,p.Leu435Arg,ENST00000325995,NM_001081675.2;CTD-2552K11.2,intron_variant,,ENST00000524355,;							MODERATE	1304/1746	L435R	KLH38_HUMAN			Transcript		benign(0.418)	.	ENSP00000321475		CCDS43766.1			1	
OR10K1	0	LGGM	GRCh37	1	158436185	158436185	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	50	37	.	.	ENST00000289451.2:c.834C>T	p.Tyr278=	p.Y278=	ENST00000289451	NM_001004473.1	278	taC/taT	0	1	1	UPI0000041B19	0		ENST00000289451		ENSG00000173285	14693		87			HGNC	p.Y278Y		OR10K1		SNV							ENST00000289451	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF112,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y		T		914/1073							YES	OR10K1,synonymous_variant,p.=,ENST00000289451,NM_001004473.1;							LOW	834/942		O10K1_HUMAN			Transcript			.	ENSP00000289451		CCDS30897.1			1	
SEZ6	0	LGGM	GRCh37	17	27284414	27284414	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	52	40	.	.	ENST00000317338.12:c.2446C>G	p.Arg816Gly	p.R816G	ENST00000317338		816	Cgc/Ggc	0	1	1	UPI0000049D91	0	getma.org/pdb.php?prot=SEZ6_HUMAN&from=771&to=830&var=R816G	ENST00000317338		ENSG00000063015	15955		92	0.8		HGNC	p.R816G		SEZ6		SNV							ENST00000442608	protein_coding	getma.org/?cm=var&var=hg19,17,27284414,G,C&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF92,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		R/G		C	neutral	2875/4471		getma.org/?cm=msa&ty=f&p=SEZ6_HUMAN&rb=771&re=830&var=R816G	deleterious(0)	K7ELJ4_HUMAN			YES	SEZ6,missense_variant,p.Arg816Gly,ENST00000317338,;SEZ6,missense_variant,p.Arg816Gly,ENST00000360295,NM_178860.4,NM_001098635.1;SEZ6,missense_variant,p.Arg816Gly,ENST00000442608,;SEZ6,missense_variant,p.Arg742Gly,ENST00000540632,;SEZ6,intron_variant,,ENST00000335960,;SEZ6,upstream_gene_variant,,ENST00000535262,;SEZ6,downstream_gene_variant,,ENST00000539265,;PIPOX,intron_variant,,ENST00000583215,;PIPOX,intron_variant,,ENST00000580241,;PIPOX,intron_variant,,ENST00000578748,;PIPOX,intron_variant,,ENST00000577182,;PIPOX,intron_variant,,ENST00000580383,;SEZ6,3_prime_UTR_variant,,ENST00000540419,;SEZ6,non_coding_transcript_exon_variant,,ENST00000544224,;							MODERATE	2446/2985	R816G	SEZ6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000312942		CCDS45639.1			1	
SLFN12L	0	LGGM	GRCh37	17	33806369	33806369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080774	H080774N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	44	43	.	.	ENST00000260908.7:c.860G>T	p.Gly287Val	p.G287V	ENST00000260908	NM_001195790.1	287	gGg/gTg	0	1	1	UPI0001E556C0	0	NA	ENST00000260908		ENSG00000205045	33920		87	0.46		HGNC	p.G316V		SLFN12L		SNV							ENST00000361112	protein_coding	getma.org/?cm=var&var=hg19,17,33806369,C,A&fts=all		hmmpanther:PTHR12155:SF23,hmmpanther:PTHR12155,Pfam_domain:PF04326		G/V		A	neutral	978/3119		getma.org/?cm=msa&ty=f&p=SN12L_HUMAN&rb=250&re=384&var=G319V	deleterious(0.05)	F5H6G3_HUMAN			YES	SLFN12L,missense_variant,p.Gly287Val,ENST00000260908,NM_001195790.1;SLFN12L,missense_variant,p.Gly316Val,ENST00000361112,;SLFN12L,missense_variant,p.Gly318Val,ENST00000449046,;RP11-686D22.9,downstream_gene_variant,,ENST00000587076,;SLFN12L,upstream_gene_variant,,ENST00000587436,;SLFN12L,upstream_gene_variant,,ENST00000590802,;							MODERATE	860/1767	G319V				Transcript		benign(0.236)	.	ENSP00000437635		CCDS56026.1			1	
ZNF721	0	LGGM	GRCh37	4	436799	436799	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H080774	H080774N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	87	52	.	.	ENST00000511833.2:c.1457C>G	p.Ser486Ter	p.S486*	ENST00000511833	NM_133474.3	486	tCa/tGa	0	1		UPI000020B95C	0	NA	ENST00000338977		ENSG00000182903	29425		139	0		HGNC	p.S486X		ZNF721		SNV							ENST00000511833	protein_coding	getma.org/?cm=var&var=hg19,4,436799,G,C&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/*		C	NA	1470/4492		NA						ZNF721,stop_gained,p.Ser474Ter,ENST00000338977,;ZNF721,stop_gained,p.Ser486Ter,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,;							HIGH	1421/2736	S474*	ZN721_HUMAN			Transcript			.	ENSP00000340524					1	
SMCR8	0	LGGM	GRCh37	17	18220703	18220703	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080774	H080774N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080774N.bam, H080774T.bam	Illumina HiSeq	39	55	.	.	ENST00000406438.3:c.1600A>T	p.Lys534Ter	p.K534*	ENST00000406438	NM_144775.2	534	Aag/Tag	0	1	1	UPI0000E0322D	0	NA	ENST00000406438		ENSG00000176994	17921		94	0		HGNC	p.K534X		SMCR8		SNV							ENST00000406438	protein_coding	getma.org/?cm=var&var=hg19,17,18220703,A,T&fts=all		hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334		K/*		T	NA	2080/3427		NA					YES	SMCR8,stop_gained,p.Lys534Ter,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,;							HIGH	1600/2814	K534*	SMCR8_HUMAN			Transcript			.	ENSP00000385025		CCDS11195.2			1	
NPAS3	0	LGGM	GRCh37	14	34269089	34269089	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	7	2	.	.	ENST00000356141.4:c.1576C>T	p.Arg526Cys	p.R526C	ENST00000356141		526	Cgc/Tgc	0	1	1	UPI00000743C2	0	NA	ENST00000356141		ENSG00000151322	19311		9	0		HGNC	p.R513C		NPAS3		SNV							ENST00000357798	protein_coding	getma.org/?cm=var&var=hg19,14,34269089,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043		R/C		T	neutral	1576/2802		getma.org/?cm=msa&ty=f&p=NPAS3_HUMAN&rb=455&re=931&var=R526C	deleterious(0.03)				YES	NPAS3,missense_variant,p.Arg494Cys,ENST00000346562,NM_022123.2,NM_173159.2,NM_001164749.1,NM_001165893.1;NPAS3,missense_variant,p.Arg496Cys,ENST00000548645,;NPAS3,missense_variant,p.Arg531Cys,ENST00000551492,;NPAS3,missense_variant,p.Arg526Cys,ENST00000356141,;NPAS3,missense_variant,p.Arg513Cys,ENST00000357798,;NPAS3,missense_variant,p.Arg500Cys,ENST00000551634,;							MODERATE	1576/2802	R526C	NPAS3_HUMAN			Transcript		benign(0.12)	.	ENSP00000348460		CCDS53891.1			1	
CD248	0	LGGM	GRCh37	11	66082378	66082378	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	9	2	.	.	ENST00000311330.3:c.2121C>A	p.Ile707=	p.I707=	ENST00000311330	NM_020404.2	707	atC/atA	0	1	1	UPI0000049803	0		ENST00000311330		ENSG00000174807	18219		11			HGNC	p.I707I		CD248		SNV							ENST00000311330	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR24838:SF269,hmmpanther:PTHR24838		I		T		2138/2558							YES	CD248,synonymous_variant,p.=,ENST00000311330,NM_020404.2;RP11-867G23.13,intron_variant,,ENST00000534065,;							LOW	2121/2274		CD248_HUMAN			Transcript			.	ENSP00000308117		CCDS8134.1			1	
KM-PA-2	0	LGGM	GRCh37	8	145318032	145318032	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	6	2	.	.	ENST00000377412.4:c.1282G>C	p.Val428Leu	p.V428L	ENST00000377412		428	Gtg/Ctg	0	1	1	UPI0000073440	0		ENST00000377412		ENSG00000204775			8			Uniprot_gn	p.V428L		KM-PA-2		SNV							ENST00000377412	protein_coding			HAMAP:MF_03027,hmmpanther:PTHR17605,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		V/L		G		1282/1969			tolerated(0.07)	Q96Q25_HUMAN,Q6DKJ9_HUMAN,Q4G0D9_HUMAN,E9PRN9_HUMAN			YES	KM-PA-2,missense_variant,p.Val428Leu,ENST00000377412,;MROH1,downstream_gene_variant,,ENST00000528919,NM_032450.2;MROH1,downstream_gene_variant,,ENST00000326134,;MROH1,downstream_gene_variant,,ENST00000534366,NM_001288814.1;MROH1,downstream_gene_variant,,ENST00000398656,;MROH1,downstream_gene_variant,,ENST00000544576,;SCXB,upstream_gene_variant,,ENST00000340210,NM_001080514.1;							MODERATE	1282/1905					Transcript		benign(0.047)	.	ENSP00000366629					1	
C17orf59	0	LGGM	GRCh37	17	8093092	8093092	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	11	2	.	.	ENST00000389017.4:c.367G>T	p.Gly123Trp	p.G123W	ENST00000389017	NM_017622.2	123	Ggg/Tgg	0	1	1	UPI000022A2C3	0	NA	ENST00000389017		ENSG00000196544	25939		13	0.345		HGNC	p.G123W		C17orf59		SNV							ENST00000389017	protein_coding	getma.org/?cm=var&var=hg19,17,8093092,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13440:SF6,hmmpanther:PTHR13440		G/W		A	neutral	473/1913		getma.org/?cm=msa&ty=f&p=CQ059_HUMAN&rb=1&re=200&var=G123W	deleterious_low_confidence(0.02)				YES	C17orf59,missense_variant,p.Gly123Trp,ENST00000389017,NM_017622.2;AC129492.1,downstream_gene_variant,,ENST00000579470,;							MODERATE	367/1074	G123W	CQ059_HUMAN			Transcript		possibly_damaging(0.68)	.	ENSP00000373669		CCDS11133.2			1	
FAM78A	0	LGGM	GRCh37	9	134136241	134136241	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	42	3	.	.	ENST00000372271.3:c.820C>T	p.Pro274Ser	p.P274S	ENST00000372271	NM_033387.3	274	Ccg/Tcg	0	1	1	UPI000013F430	0	NA	ENST00000372271		ENSG00000126882	25465		45	2.085		HGNC	p.P271S		FAM78A		SNV							ENST00000372269	protein_coding	getma.org/?cm=var&var=hg19,9,134136241,G,A&fts=all		hmmpanther:PTHR31655,hmmpanther:PTHR31655:SF3		P/S		A	medium	1188/3966		getma.org/?cm=msa&ty=f&p=FA78A_HUMAN&rb=115&re=281&var=P274S	deleterious(0.04)				YES	FAM78A,missense_variant,p.Pro274Ser,ENST00000372271,NM_033387.3;FAM78A,missense_variant,p.Pro271Ser,ENST00000372269,;FAM78A,missense_variant,p.Pro243Ser,ENST00000464831,;FAM78A,non_coding_transcript_exon_variant,,ENST00000247295,;							MODERATE	820/852	P274S	FA78A_HUMAN			Transcript		benign(0.032)	.	ENSP00000361345		CCDS6941.2			1	
NFKBIA	0	LGGM	GRCh37	14	35872497	35872497	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	41	3	.	.	ENST00000216797.5:c.406G>T	p.Asp136Tyr	p.D136Y	ENST00000216797	NM_020529.2	136	Gat/Tat	0	1	1	UPI000004F0A9	0	getma.org/pdb.php?prot=IKBA_HUMAN&from=111&to=142&var=D136Y	ENST00000216797		ENSG00000100906	7797		44	3.135		HGNC	p.D46Y		NFKBIA		SNV			1				ENST00000557389	protein_coding	getma.org/?cm=var&var=hg19,14,35872497,C,A&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF12796,Gene3D:1.25.40.20,hmmpanther:PTHR24139,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		D/Y		A	medium	508/1558		getma.org/?cm=msa&ty=f&p=IKBA_HUMAN&rb=111&re=142&var=D136Y	deleterious(0)	Q9UGJ5_HUMAN,G3V286_HUMAN			YES	NFKBIA,missense_variant,p.Asp136Tyr,ENST00000216797,NM_020529.2;NFKBIA,missense_variant,p.Asp46Tyr,ENST00000557389,;NFKBIA,missense_variant,p.Asp136Tyr,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,,ENST00000557459,;NFKBIA,non_coding_transcript_exon_variant,,ENST00000556664,;NFKBIA,upstream_gene_variant,,ENST00000555371,;NFKBIA,downstream_gene_variant,,ENST00000555629,;							MODERATE	406/954	D136Y	IKBA_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000216797		CCDS9656.1			1	
CEP72	0	LGGM	GRCh37	5	620310	620310	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	38	3	.	.	ENST00000264935.5:c.337G>A	p.Val113Met	p.V113M	ENST00000264935	NM_018140.3	113	Gtg/Atg	0	1	1	UPI0000072FB8	0	NA	ENST00000264935		ENSG00000112877	25547		41	3.11		HGNC	p.V113M	rs776619865	CEP72	0.000242	SNV							ENST00000444221	protein_coding	getma.org/?cm=var&var=hg19,5,620310,G,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23311,hmmpanther:PTHR23311:SF0,Superfamily_domains:SSF52058		V/M		A	medium	427/2434		getma.org/?cm=msa&ty=f&p=CEP72_HUMAN&rb=111&re=150&var=V113M	deleterious(0)				YES	CEP72,missense_variant,p.Val113Met,ENST00000264935,NM_018140.3;CEP72,missense_variant,p.Val113Met,ENST00000444221,;	0.000116						MODERATE	337/1944	V113M	CEP72_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000264935	4.12E-05	CCDS34126.1			1	
OR51I2	0	LGGM	GRCh37	11	5474813	5474813	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	20	3	.	.	ENST00000341449.2:c.95G>A	p.Cys32Tyr	p.C32Y	ENST00000341449	NM_001004754.2	32	tGc/tAc	0	1	1	UPI0000041CD1	0	getma.org/pdb.php?prot=O51I2_HUMAN&from=1&to=139&var=C32Y	ENST00000341449		ENSG00000187918	15201		23	2.935		HGNC	p.C32Y		OR51I2		SNV							ENST00000341449	protein_coding	getma.org/?cm=var&var=hg19,11,5474813,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF112,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		C/Y		A	medium	176/1070		getma.org/?cm=msa&ty=f&p=O51I2_HUMAN&rb=1&re=139&var=C32Y	deleterious(0)				YES	OR51I2,missense_variant,p.Cys32Tyr,ENST00000341449,NM_001004754.2;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,;							MODERATE	95/939	C32Y	O51I2_HUMAN			Transcript		possibly_damaging(0.626)	.	ENSP00000341987		CCDS31383.1			1	
SPAG6	0	LGGM	GRCh37	10	22634874	22634874	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	7	3	.	.	ENST00000376624.3:c.121+127A>G		*41*	ENST00000376624	NM_012443.3			0	1	1	UPI0000073ED7	0		ENST00000376624		ENSG00000077327	11215		10			HGNC	p.H83R		SPAG6		SNV							ENST00000435326	protein_coding							G		-/2605							YES	SPAG6,missense_variant,p.His83Arg,ENST00000376603,;SPAG6,missense_variant,p.His83Arg,ENST00000435326,;SPAG6,intron_variant,,ENST00000376624,NM_012443.3,NM_001253855.1;SPAG6,intron_variant,,ENST00000313311,NM_172242.2;SPAG6,intron_variant,,ENST00000538630,NM_001253854.1;SPAG6,intron_variant,,ENST00000376601,;SPAG6,intron_variant,,ENST00000456231,;SPAG6,intron_variant,,ENST00000488555,;							MODIFIER	-/1530		SPAG6_HUMAN			Transcript			.	ENSP00000365811		CCDS7139.1			1	
ADCY7	0	LGGM	GRCh37	16	50325705	50325705	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	0	3	.	.	ENST00000394697.2:c.434G>A	p.Arg145Gln	p.R145Q	ENST00000394697		145	cGg/cAg	0	1		UPI000004C5DB	0	NA	ENST00000254235		ENSG00000121281	238	0.000608	3	1.2		HGNC	p.R145Q	rs747184878	ADCY7		SNV							ENST00000567277	protein_coding	getma.org/?cm=var&var=hg19,16,50325705,G,A&fts=all		hmmpanther:PTHR11920:SF273,hmmpanther:PTHR11920		R/Q		A	low	702/6130	1.51E-05	getma.org/?cm=msa&ty=f&p=ADCY7_HUMAN&rb=72&re=148&var=R145Q	tolerated(0.26)	I3L3Q5_HUMAN				ADCY7,missense_variant,p.Arg145Gln,ENST00000394697,;ADCY7,missense_variant,p.Arg145Gln,ENST00000254235,NM_001114.3;ADCY7,missense_variant,p.Arg145Gln,ENST00000566433,NM_001286057.1;ADCY7,missense_variant,p.Arg145Gln,ENST00000538642,;ADCY7,missense_variant,p.Arg145Gln,ENST00000537579,;ADCY7,downstream_gene_variant,,ENST00000566761,;ADCY7,downstream_gene_variant,,ENST00000564965,;ADCY7,downstream_gene_variant,,ENST00000569265,;ADCY7,intron_variant,,ENST00000564044,;ADCY7,intron_variant,,ENST00000563677,;ADCY7,downstream_gene_variant,,ENST00000562623,;ADCY7,downstream_gene_variant,,ENST00000568933,;ADCY7,missense_variant,p.Arg145Gln,ENST00000567277,;							MODERATE	434/3243	R145Q	ADCY7_HUMAN			Transcript		benign(0.003)	common_variant	ENSP00000254235	6.59E-05	CCDS10741.1			1	
LDLRAD3	0	LGGM	GRCh37	11	36248712	36248712	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	50	4	.	.	ENST00000315571.5:c.532G>A	p.Gly178Ser	p.G178S	ENST00000315571	NM_174902.2	178	Ggc/Agc	0	1	1	UPI000003B0FB	0	NA	ENST00000315571		ENSG00000179241	27046	0.000259	54	1.1		HGNC	p.G168S	rs765269452	LDLRAD3	0.000122	SNV							ENST00000524419	protein_coding	getma.org/?cm=var&var=hg19,11,36248712,G,A&fts=all		Transmembrane_helices:TMhelix		G/S		A	low	553/3798	4.50E-05	getma.org/?cm=msa&ty=f&p=LRAD3_HUMAN&rb=173&re=343&var=G178S	deleterious(0)				YES	LDLRAD3,missense_variant,p.Gly178Ser,ENST00000315571,NM_174902.2;LDLRAD3,missense_variant,p.Gly168Ser,ENST00000524419,;LDLRAD3,missense_variant,p.Gly129Ser,ENST00000528989,;LDLRAD3,non_coding_transcript_exon_variant,,ENST00000529759,;LDLRAD3,non_coding_transcript_exon_variant,,ENST00000534091,;LDLRAD3,intron_variant,,ENST00000532490,;							MODERATE	532/1038	G178S	LRAD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000318607	7.41E-05	CCDS31462.1	0.0011		1	
ISLR2	0	LGGM	GRCh37	15	74425413	74425413	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	36	4	.	.	ENST00000361742.3:c.318G>C	p.Leu106=	p.L106=	ENST00000361742	NM_001130136.1	106	ctG/ctC	0	1	1	UPI000004C60F	0		ENST00000361742		ENSG00000167178	29286		40			HGNC	p.L106L		ISLR2		SNV							ENST00000445793	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		C		1087/4817				H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN			YES	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,;							LOW	318/2238		ISLR2_HUMAN			Transcript			.	ENSP00000355402		CCDS10259.1			1	
OSBPL11	0	LGGM	GRCh37	3	125282595	125282595	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	94	4	.	.	ENST00000296220.5:c.961C>T	p.Pro321Ser	p.P321S	ENST00000296220	NM_022776.4	321	Ccg/Tcg	0	1	1	UPI0000130E9C	0	NA	ENST00000296220		ENSG00000144909	16397		98	1.01		HGNC	p.P321S		OSBPL11		SNV							ENST00000296220	protein_coding	getma.org/?cm=var&var=hg19,3,125282595,G,A&fts=all		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF46		P/S		A	low	1251/4191		getma.org/?cm=msa&ty=f&p=OSB11_HUMAN&rb=156&re=355&var=P321S	tolerated(0.32)	Q9GZM0_HUMAN			YES	OSBPL11,missense_variant,p.Pro321Ser,ENST00000296220,NM_022776.4;							MODERATE	961/2244	P321S	OSB11_HUMAN			Transcript		benign(0.007)	.	ENSP00000296220		CCDS3033.1			1	
VCPIP1	0	LGGM	GRCh37	8	67578705	67578705	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	59	4	.	.	ENST00000310421.4:c.489G>C	p.Leu163=	p.L163=	ENST00000310421	NM_025054.4	163	ctG/ctC	0	1	1	UPI00001D3EF3	0		ENST00000310421		ENSG00000175073	30897		63			HGNC	p.L163L		VCPIP1		SNV							ENST00000310421	protein_coding			hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF1		L		G		748/9942							YES	VCPIP1,synonymous_variant,p.=,ENST00000310421,NM_025054.4;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.1;C8orf44,upstream_gene_variant,,ENST00000519561,NM_019607.2;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;							LOW	489/3669		VCIP1_HUMAN			Transcript			.	ENSP00000309031		CCDS6192.1			1	
ABHD17B	0	LGGM	GRCh37	9	74489762	74489762	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	58	4	.	.	ENST00000377041.2:c.235A>T	p.Ile79Phe	p.I79F	ENST00000377041	NM_016014.2	79	Att/Ttt	0	1		UPI0000210B1D	0	NA	ENST00000333421		ENSG00000107362	24278		62	3.035		HGNC	p.I79F		ABHD17B		SNV							ENST00000377041	protein_coding	getma.org/?cm=var&var=hg19,9,74489762,T,A&fts=all		hmmpanther:PTHR12277:SF48,hmmpanther:PTHR12277,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		I/F		A	medium	347/2614		getma.org/?cm=msa&ty=f&p=F108B_HUMAN&rb=1&re=92&var=I79F	deleterious(0)					ABHD17B,missense_variant,p.Ile79Phe,ENST00000333421,NM_001025780.1;ABHD17B,missense_variant,p.Ile79Phe,ENST00000377041,NM_016014.2;							MODERATE	235/867	I79F	AB17B_HUMAN			Transcript		possibly_damaging(0.704)	.	ENSP00000330222		CCDS35043.1			1	
RNF213	0	LGGM	GRCh37	17	78327893	78327893	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	16	4	.	.	ENST00000582970.1:c.10653C>T	p.Asn3551=	p.N3551=	ENST00000582970	NM_001256071.1	3551	aaC/aaT	0	1	1	UPI0001D3BDB1	0		ENST00000582970		ENSG00000173821	14539		20			HGNC	p.N3600N		RNF213		SNV			1				ENST00000508628	protein_coding			hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		N		T		10796/21055				H3BLU6_HUMAN			YES	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.1;RNF213,synonymous_variant,p.=,ENST00000508628,;RNF213,synonymous_variant,p.=,ENST00000336301,;CTD-2047H16.4,non_coding_transcript_exon_variant,,ENST00000575034,;CTD-2047H16.4,downstream_gene_variant,,ENST00000572151,;RNF213,upstream_gene_variant,,ENST00000558116,;RNF213,upstream_gene_variant,,ENST00000560694,;							LOW	10653/15624		RN213_HUMAN			Transcript			.	ENSP00000464087		CCDS58606.1			1	
AXIN1	0	LGGM	GRCh37	16	396559	396581	+	frameshift_variant	Frame_Shift_Del	DEL	ACGATGCCATTGTTATCAAGAAT	ACGATGCCATTGTTATCAAGAAT	-	novel	by Submitter	H080775	H080775N.bam	ACGATGCCATTGTTATCAAGAAT	ACGATGCCATTGTTATCAAGAAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	8	4	.	.	ENST00000262320.3:c.445_467del	p.Ile149ValfsTer27	p.I149Vfs*27	ENST00000262320	NM_003502.3	149	ATTCTTGATAACAATGGCATCGTg/g	0	1	1	UPI000012669E	0		ENST00000262320		ENSG00000103126	903		12			HGNC	p.149_156del		AXIN1		deletion			1				ENST00000354866	protein_coding			PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097		ILDNNGIV/X		-		817-839/3643							YES	AXIN1,frameshift_variant,p.Ile149ValfsTer27,ENST00000262320,NM_003502.3;AXIN1,frameshift_variant,p.Ile149ValfsTer27,ENST00000354866,NM_181050.2;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;							HIGH	445-467/2589		AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
CAPN1	0	LGGM	GRCh37	11	64955901	64955901	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	15	5	.	.	ENST00000527323.1:c.946A>T	p.Asn316Tyr	p.N316Y	ENST00000527323		316	Aac/Tac	0	1		UPI0000000E05	0	getma.org/pdb.php?prot=CAN1_HUMAN&from=55&to=354&var=N316Y	ENST00000279247		ENSG00000014216	1476		20	-0.435		HGNC	p.N316Y		CAPN1		SNV							ENST00000279247	protein_coding	getma.org/?cm=var&var=hg19,11,64955901,A,T&fts=all		PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF284,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001		N/Y		T	neutral	1089/3007		getma.org/?cm=msa&ty=f&p=CAN1_HUMAN&rb=55&re=354&var=N316Y	tolerated(0.78)	E9PSA6_HUMAN,E9PQB3_HUMAN,E9PMC6_HUMAN,E9PLX0_HUMAN,E9PLC9_HUMAN,E9PJJ3_HUMAN,E9PJA6_HUMAN,E9PIA9_HUMAN				CAPN1,missense_variant,p.Asn316Tyr,ENST00000527323,;CAPN1,missense_variant,p.Asn316Tyr,ENST00000533820,NM_001198868.1;CAPN1,missense_variant,p.Asn316Tyr,ENST00000279247,NM_005186.3;CAPN1,missense_variant,p.Asn316Tyr,ENST00000524773,NM_001198869.1;CAPN1,missense_variant,p.Asn316Tyr,ENST00000533129,;CAPN1,downstream_gene_variant,,ENST00000526468,;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,,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,,ENST00000533079,;CAPN1,non_coding_transcript_exon_variant,,ENST00000527887,;CAPN1,downstream_gene_variant,,ENST00000527897,;CAPN1,downstream_gene_variant,,ENST00000526954,;CAPN1,downstream_gene_variant,,ENST00000530442,;							MODERATE	946/2145	N316Y	CAN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000279247		CCDS44644.1			1	
AP3B2	0	LGGM	GRCh37	15	83335619	83335619	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	40	5	.	.	ENST00000261722.3:c.1732C>T	p.Arg578Trp	p.R578W	ENST00000261722	NM_004644.4	578	Cgg/Tgg	0	1	1	UPI0000125030	0	getma.org/pdb.php?prot=AP3B2_HUMAN&from=34&to=590&var=R578W	ENST00000261722		ENSG00000103723	567		45	3.955		HGNC	p.R578W		AP3B2		SNV							ENST00000535359	protein_coding	getma.org/?cm=var&var=hg19,15,83335619,G,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Superfamily_domains:SSF48371		R/W		A	high	1940/3736		getma.org/?cm=msa&ty=f&p=AP3B2_HUMAN&rb=34&re=590&var=R578W	deleterious(0)	F5GWU4_HUMAN			YES	AP3B2,missense_variant,p.Arg578Trp,ENST00000261722,NM_004644.4;AP3B2,missense_variant,p.Arg578Trp,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Arg546Trp,ENST00000535348,NM_001278511.1;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,upstream_gene_variant,,ENST00000537735,;AP3B2,upstream_gene_variant,,ENST00000545315,;AP3B2,upstream_gene_variant,,ENST00000538592,;							MODERATE	1732/3249	R578W	AP3B2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000261722		CCDS45331.1			1	
RGS21	0	LGGM	GRCh37	1	192335144	192335144	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	86	5	.	.	ENST00000417209.2:c.349T>G	p.Cys117Gly	p.C117G	ENST00000417209	NM_001039152.3	117	Tgt/Ggt	0	1	1	UPI0000682FB1	0	getma.org/pdb.php?prot=RGS21_HUMAN&from=21&to=136&var=C117G	ENST00000417209		ENSG00000253148	26839		91	-1.04		HGNC	p.C117G		RGS21		SNV							ENST00000417209	protein_coding	getma.org/?cm=var&var=hg19,1,192335144,T,G&fts=all		Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF155,SMART_domains:SM00315,Superfamily_domains:SSF48097		C/G		G	neutral	523/1794		getma.org/?cm=msa&ty=f&p=RGS21_HUMAN&rb=21&re=136&var=C117G	tolerated(0.35)				YES	RGS21,missense_variant,p.Cys117Gly,ENST00000417209,NM_001039152.3;							MODERATE	349/459	C117G	RGS21_HUMAN			Transcript		benign(0.001)	.	ENSP00000428343		CCDS41448.1			1	
TMCC1	0	LGGM	GRCh37	3	129373868	129373868	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	58	5	.	.	ENST00000393238.3:c.1590G>A	p.Leu530=	p.L530=	ENST00000393238	NM_001017395.3	530	ctG/ctA	0	1	1	UPI0000197B80	0		ENST00000393238		ENSG00000172765	29116		63			HGNC	p.L351L		TMCC1		SNV							ENST00000329333	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11		L		T		1931/5992				Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN			YES	TMCC1,synonymous_variant,p.=,ENST00000393238,NM_001017395.3;TMCC1,synonymous_variant,p.=,ENST00000432054,;TMCC1,synonymous_variant,p.=,ENST00000426664,NM_001128224.2;TMCC1,synonymous_variant,p.=,ENST00000329333,;TMCC1,5_prime_UTR_variant,,ENST00000510323,;							LOW	1590/1962		TMCC1_HUMAN			Transcript			.	ENSP00000376930		CCDS33855.1			1	
MYOCD	0	LGGM	GRCh37	17	12649341	12649341	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	98	5	.	.	ENST00000425538.1:c.1077C>T	p.Val359=	p.V359=	ENST00000425538	NM_001146312.1	359	gtC/gtT	0	1		UPI0000062264	0		ENST00000343344		ENSG00000141052	16067		103			HGNC	p.V263V		MYOCD		SNV							ENST00000395988	protein_coding			hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF11		V		T		1077/2817								MYOCD,synonymous_variant,p.=,ENST00000425538,NM_001146312.1,NM_153604.2;MYOCD,synonymous_variant,p.=,ENST00000443061,;MYOCD,synonymous_variant,p.=,ENST00000343344,;AC005358.1,synonymous_variant,p.=,ENST00000609971,NM_001146313.1;MYOCD,non_coding_transcript_exon_variant,,ENST00000395988,;							LOW	1077/2817		MYCD_HUMAN			Transcript			.	ENSP00000341835		CCDS11163.1			1	
MYLK2	0	LGGM	GRCh37	20	30419875	30419875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	3	5	.	.	ENST00000375994.2:c.1646G>A	p.Arg549His	p.R549H	ENST00000375994		549	cGc/cAc	0	1		UPI0000041851	0	NA	ENST00000375985		ENSG00000101306	16243		8	0.895		HGNC	p.R549H	rs551868924	MYLK2		SNV			1				ENST00000375994	protein_coding	getma.org/?cm=var&var=hg19,20,30419875,G,A&fts=all	A:0	hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF118,Superfamily_domains:SSF56112		R/H		A	low	1750/2787		getma.org/?cm=msa&ty=f&p=MYLK2_HUMAN&rb=541&re=596&var=R549H	tolerated(0.06)		A:0	A:0.001		MYLK2,missense_variant,p.Arg549His,ENST00000375994,;MYLK2,missense_variant,p.Arg549His,ENST00000375985,NM_033118.3;MYLK2,non_coding_transcript_exon_variant,,ENST00000468730,;		A:0.0002					MODERATE	1646/1791	R549H	MYLK2_HUMAN		A:0	Transcript		probably_damaging(0.988)	.	ENSP00000365152		CCDS13191.1		A:0	1	
ICAM5	0	LGGM	GRCh37	19	10403719	10403719	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	25	6	.	.	ENST00000221980.4:c.1262G>A	p.Trp421Ter	p.W421*	ENST00000221980	NM_003259.3	421	tGg/tAg	0	1	1	UPI000013C7E4	0	NA	ENST00000221980		ENSG00000105376	5348		31	0		HGNC	p.W421X		ICAM5		SNV							ENST00000221980	protein_coding	getma.org/?cm=var&var=hg19,19,10403719,G,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		W/*		A	NA	1325/3000		NA		K7EIL3_HUMAN			YES	ICAM5,stop_gained,p.Trp421Ter,ENST00000221980,NM_003259.3;ICAM4,downstream_gene_variant,,ENST00000393717,NM_022377.3;ICAM4,downstream_gene_variant,,ENST00000380770,NM_001544.4;ICAM4,downstream_gene_variant,,ENST00000340992,NM_001039132.2;ICAM5,downstream_gene_variant,,ENST00000587398,;CTD-2369P2.8,upstream_gene_variant,,ENST00000589379,;ICAM5,downstream_gene_variant,,ENST00000586004,;ICAM5,non_coding_transcript_exon_variant,,ENST00000586480,;ICAM5,downstream_gene_variant,,ENST00000588912,;							HIGH	1262/2775	W421*	ICAM5_HUMAN			Transcript			.	ENSP00000221980		CCDS12233.1			1	
ANKRD20A3	0	LGGM	GRCh37	9	43133241	43133241	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	4	6	.	.	ENST00000254835.2:c.192C>T	p.Asp64=	p.D64=	ENST00000254835	NM_001012419.2	64	gaC/gaT	0	1	1	UPI000013CE65	0		ENST00000254835		ENSG00000132498	31981		10			HGNC	p.D64D		ANKRD20A3		SNV							ENST00000254835	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF1,Superfamily_domains:SSF48403		D		A		304/3964							YES	ANKRD20A3,synonymous_variant,p.=,ENST00000254835,NM_001012419.2;AL513478.1,upstream_gene_variant,,ENST00000377437,;ANKRD20A3,non_coding_transcript_exon_variant,,ENST00000485255,;							LOW	192/2472		A20A3_HUMAN			Transcript			.	ENSP00000254835		CCDS35029.1			1	
DHTKD1	0	LGGM	GRCh37	10	12139796	12139796	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	33	6	.	.	ENST00000263035.4:c.1472A>T	p.His491Leu	p.H491L	ENST00000263035	NM_018706.6	491	cAc/cTc	0	1	1	UPI000013D38C	0	getma.org/pdb.php?prot=DHTK1_HUMAN&from=198&to=504&var=H491L	ENST00000263035		ENSG00000181192	23537		39	1.04		HGNC	p.H491L		DHTKD1		SNV			1				ENST00000263035	protein_coding	getma.org/?cm=var&var=hg19,10,12139796,A,T&fts=all		hmmpanther:PTHR23152,Pfam_domain:PF00676,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR00239,PIRSF_domain:PIRSF000157,Superfamily_domains:SSF52518		H/L		T	low	1534/5159		getma.org/?cm=msa&ty=f&p=DHTK1_HUMAN&rb=198&re=504&var=H491L	tolerated(0.13)				YES	DHTKD1,missense_variant,p.His491Leu,ENST00000263035,NM_018706.6;DHTKD1,missense_variant,p.His43Leu,ENST00000448829,;DHTKD1,downstream_gene_variant,,ENST00000415935,;DHTKD1,non_coding_transcript_exon_variant,,ENST00000465617,;							MODERATE	1472/2760	H491L	DHTK1_HUMAN			Transcript		benign(0.102)	.	ENSP00000263035		CCDS7087.1			1	
ANK3	0	LGGM	GRCh37	10	61827711	61827711	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	102	6	.	.	ENST00000280772.2:c.12301C>G	p.Leu4101Val	p.L4101V	ENST00000280772	NM_020987.3	4101	Ctg/Gtg	0	1	1	UPI0000141BA9	0	getma.org/pdb.php?prot=ANK3_HUMAN&from=4091&to=4174&var=L4101V	ENST00000280772		ENSG00000151150	494		108	2.07		HGNC	p.L80V		ANK3		SNV			1				ENST00000373820	protein_coding	getma.org/?cm=var&var=hg19,10,61827711,G,C&fts=all		Gene3D:1.10.533.10,Pfam_domain:PF00531,PROSITE_profiles:PS50017,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,SMART_domains:SM00005,Superfamily_domains:SSF47986		L/V		C	medium	12493/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=4091&re=4174&var=L4101V		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Leu4101Val,ENST00000280772,NM_020987.3;ANK3,missense_variant,p.Leu1482Val,ENST00000373827,NM_001204403.1;ANK3,missense_variant,p.Leu1489Val,ENST00000503366,NM_001204404.1;ANK3,missense_variant,p.Leu622Val,ENST00000355288,NM_001149.3;ANK3,missense_variant,p.Leu80Val,ENST00000373820,;ANK3,missense_variant,p.Leu48Val,ENST00000511043,;ANK3,upstream_gene_variant,,ENST00000514197,;ANK3,upstream_gene_variant,,ENST00000459732,;							MODERATE	12301/13134	L4101V	ANK3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000280772		CCDS7258.1			1	
MEP1B	0	LGGM	GRCh37	18	29797817	29797817	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	81	6	.	.	ENST00000269202.6:c.1980T>A	p.Thr660=	p.T660=	ENST00000269202	NM_005925.2	660	acT/acA	0	1	1	UPI0000201B8B	0		ENST00000269202		ENSG00000141434	7020		87			HGNC	p.T660T		MEP1B		SNV							ENST00000581447	protein_coding			PIRSF_domain:PIRSF001196,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF312,Transmembrane_helices:TMhelix		T		A		2027/2312				J3KRK1_HUMAN			YES	MEP1B,synonymous_variant,p.=,ENST00000269202,NM_005925.2;MEP1B,synonymous_variant,p.=,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;							LOW	1980/2106		MEP1B_HUMAN			Transcript			.	ENSP00000269202		CCDS45846.1			1	
MOSPD2	0	LGGM	GRCh37	X	14911002	14911002	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	93	7	.	.	ENST00000380492.3:c.235+2T>G		p.X79_splice	ENST00000380492	NM_152581.3			0	1	1	UPI00000735BA	0		ENST00000380492		ENSG00000130150	28381		100			HGNC	-		MOSPD2		SNV							ENST00000380492	protein_coding							G		-/4163							YES	MOSPD2,splice_donor_variant,,ENST00000380492,NM_152581.3,NM_001177475.1;MOSPD2,splice_donor_variant,,ENST00000482354,;MOSPD2,splice_donor_variant,,ENST00000495110,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000461777,;							HIGH	235/1557		MSPD2_HUMAN			Transcript			.	ENSP00000369860		CCDS14162.1			1	
VAV2	0	LGGM	GRCh37	9	136804226	136804226	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	41	7	.	.	ENST00000371850.3:c.320A>T	p.Lys107Met	p.K107M	ENST00000371850	NM_001134398.1	107	aAg/aTg	0	1	1	UPI000013E06E	0	getma.org/pdb.php?prot=VAV2_HUMAN&from=5&to=119&var=K107M	ENST00000371850		ENSG00000160293	12658		48	2.62		HGNC	p.K107M		VAV2		SNV							ENST00000371851	protein_coding	getma.org/?cm=var&var=hg19,9,136804226,T,A&fts=all		PROSITE_profiles:PS50021,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF95,Gene3D:1.10.418.10,SMART_domains:SM00033,Superfamily_domains:SSF47576		K/M		A	medium	352/4837		getma.org/?cm=msa&ty=f&p=VAV2_HUMAN&rb=5&re=119&var=K107M	deleterious(0)				YES	VAV2,missense_variant,p.Lys107Met,ENST00000371851,;VAV2,missense_variant,p.Lys107Met,ENST00000371850,NM_001134398.1;VAV2,missense_variant,p.Lys107Met,ENST00000406606,NM_003371.3;VAV2,splice_region_variant,,ENST00000486113,;VAV2,splice_region_variant,,ENST00000472905,;							MODERATE	320/2637	K107M	VAV2_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000360916		CCDS48053.1			1	
SLU7	0	LGGM	GRCh37	5	159830450	159830450	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	137	7	.	.	ENST00000297151.4:c.1603C>T	p.Arg535Cys	p.R535C	ENST00000297151	NM_006425.4	535	Cgc/Tgc	0	1	1	UPI000013E3CE	0	NA	ENST00000297151		ENSG00000164609	16939	8.64E-05	144	0.695		HGNC	p.R535C	rs763213192	SLU7		SNV							ENST00000297151	protein_coding	getma.org/?cm=var&var=hg19,5,159830450,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2		R/C		A	neutral	1991/3793		getma.org/?cm=msa&ty=f&p=SLU7_HUMAN&rb=474&re=542&var=R535C	deleterious(0)	E5RK41_HUMAN,E5RGM7_HUMAN			YES	SLU7,missense_variant,p.Arg535Cys,ENST00000297151,NM_006425.4;C5orf54,upstream_gene_variant,,ENST00000408953,NM_022090.3;C5orf54,upstream_gene_variant,,ENST00000523213,;SLU7,non_coding_transcript_exon_variant,,ENST00000521320,;SLU7,downstream_gene_variant,,ENST00000520841,;SLU7,downstream_gene_variant,,ENST00000523219,;							MODERATE	1603/1761	R535C	SLU7_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000297151	8.24E-06	CCDS4352.1			1	
BPTF	0	LGGM	GRCh37	17	65888042	65888042	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	13	7	.	.	ENST00000306378.6:c.1947A>C	p.Arg649=	p.R649=	ENST00000306378	NM_182641.3	649	cgA/cgC	0	1		UPI0001838807	0		ENST00000321892		ENSG00000171634	3581		20			HGNC	p.R775R		BPTF		SNV							ENST00000335221	protein_coding			hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		R		C		2386/11292								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.=,ENST00000544491,;BPTF,non_coding_transcript_exon_variant,,ENST00000579173,;BPTF,upstream_gene_variant,,ENST00000467104,;							LOW	2325/9141		BPTF_HUMAN			Transcript			.	ENSP00000315454					1	
SLC38A5	0	LGGM	GRCh37	X	48318139	48318139	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	11	7	.	.	ENST00000376876.3:c.1192C>T	p.Arg398Trp	p.R398W	ENST00000376876		398	Cgg/Tgg	0	1	1	UPI000004F5E1	0	NA	ENST00000376876		ENSG00000017483	18070		18	2.09		HGNC	p.R398W	rs781983928	SLC38A5		SNV							ENST00000317669	protein_coding	getma.org/?cm=var&var=hg19,X,48318139,G,A&fts=all		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF74		R/W		A	medium	2036/2662		getma.org/?cm=msa&ty=f&p=S38A5_HUMAN&rb=46&re=460&var=R398W	deleterious(0.02)	C9JWG4_HUMAN,C9JNK4_HUMAN,C9JMY2_HUMAN,C9JJU1_HUMAN,C9JHH7_HUMAN			YES	SLC38A5,missense_variant,p.Arg398Trp,ENST00000376876,;SLC38A5,missense_variant,p.Arg347Trp,ENST00000376875,;SLC38A5,missense_variant,p.Arg398Trp,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,;							MODERATE	1192/1419	R398W	S38A5_HUMAN			Transcript		benign(0.149)	.	ENSP00000366073		CCDS14293.1			1	
F3	0	LGGM	GRCh37	1	95005811	95005811	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	25	8	.	.	ENST00000334047.7:c.212+2T>A		p.X71_splice	ENST00000334047	NM_001993.4			0	1	1	UPI000002CD0D	0		ENST00000334047		ENSG00000117525	3541		33			HGNC	-		F3		SNV							ENST00000334047	protein_coding							T		-/2287				Q8NCW7_HUMAN			YES	F3,splice_donor_variant,,ENST00000334047,NM_001993.4;F3,splice_donor_variant,,ENST00000370207,NM_001178096.1;F3,splice_donor_variant,,ENST00000480356,;F3,upstream_gene_variant,,ENST00000478217,;							HIGH	212/888		TF_HUMAN			Transcript			.	ENSP00000334145		CCDS750.1			1	
HNF4A	0	LGGM	GRCh37	20	43052769	43052769	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	11	8	.	.	ENST00000316099.4:c.1004G>T	p.Gly335Val	p.G335V	ENST00000316099	NM_001258355.1	335	gGa/gTa	0	1	1	UPI000016A0BA	0	getma.org/pdb.php?prot=HNF4A_HUMAN&from=166&to=361&var=G335V	ENST00000316099		ENSG00000101076	5024		19	3.495		HGNC	p.G313V	rs777290134	HNF4A		SNV			1				ENST00000316673	protein_coding	getma.org/?cm=var&var=hg19,20,43052769,G,T&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,SMART_domains:SM00430,Superfamily_domains:SSF48508		G/V		T	medium	1093/4694	3.16E-05	getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=166&re=361&var=G335V	deleterious(0)	F1D8T1_HUMAN			YES	HNF4A,missense_variant,p.Gly335Val,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.Gly335Val,ENST00000415691,;HNF4A,missense_variant,p.Gly335Val,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Gly313Val,ENST00000316673,;HNF4A,missense_variant,p.Gly313Val,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,missense_variant,p.Gly313Val,ENST00000609795,NM_001030004.2;AL132772.1,downstream_gene_variant,,ENST00000581483,;HNF4A,3_prime_UTR_variant,,ENST00000372920,;							MODERATE	1004/1425	G335V	HNF4A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312987	1.65E-05	CCDS13330.1			1	
SI	0	LGGM	GRCh37	3	164733760	164733760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	132	8	.	.	ENST00000264382.3:c.3868A>G	p.Met1290Val	p.M1290V	ENST00000264382	NM_001041.3	1290	Atg/Gtg	0	1	1	UPI000022C287	0	getma.org/pdb.php?prot=SUIS_HUMAN&from=1195&to=1691&var=M1290V	ENST00000264382		ENSG00000090402	10856		140	1.41		HGNC	p.M1290V		SI		SNV			1				ENST00000264382	protein_coding	getma.org/?cm=var&var=hg19,3,164733760,T,C&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055		M/V		C	low	3931/6011		getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=1195&re=1691&var=M1290V	deleterious(0.02)				YES	SI,missense_variant,p.Met1290Val,ENST00000264382,NM_001041.3;							MODERATE	3868/5484	M1290V	SUIS_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000264382		CCDS3196.1			1	
FAM46D	0	LGGM	GRCh37	X	79698941	79698941	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	61	8	.	.	ENST00000538312.1:c.903C>A	p.Thr301=	p.T301=	ENST00000538312	NM_001170574.1	301	acC/acA	0	1		UPI0000073CF3	0		ENST00000308293		ENSG00000174016	28399		69			HGNC	p.T301T	COSM389954	FAM46D		SNV						1	ENST00000308293	protein_coding			hmmpanther:PTHR12974:SF30,hmmpanther:PTHR12974,Pfam_domain:PF07984		T		A		1142/3011								FAM46D,synonymous_variant,p.=,ENST00000538312,NM_001170574.1;FAM46D,synonymous_variant,p.=,ENST00000308293,NM_152630.4;					1		LOW	903/1170		FA46D_HUMAN			Transcript			.	ENSP00000308575		CCDS14446.1			1	
PNPO	0	LGGM	GRCh37	17	46021985	46021985	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	153	8	.	.	ENST00000225573.4:c.267T>C	p.Asp89=	p.D89=	ENST00000225573	NM_018129.3	89	gaT/gaC	0	1	1	UPI000004A13F	0		ENST00000225573		ENSG00000108439	30260		161			HGNC	p.W48R		PNPO		SNV			1				ENST00000585320	protein_coding			HAMAP:MF_01629,hmmpanther:PTHR10851,hmmpanther:PTHR10851:SF1,TIGRFAM_domain:TIGR00558,Pfam_domain:PF01243,Gene3D:2.30.110.10,PIRSF_domain:PIRSF000190,Superfamily_domains:SSF50475		D		C		372/2397				J3QQZ9_HUMAN,J3QQV6_HUMAN,B4E0V0_HUMAN			YES	PNPO,synonymous_variant,p.=,ENST00000225573,NM_018129.3;PNPO,synonymous_variant,p.=,ENST00000434554,;PNPO,synonymous_variant,p.=,ENST00000544840,;PNPO,synonymous_variant,p.=,ENST00000583599,;PNPO,5_prime_UTR_variant,,ENST00000534893,;AC003665.1,upstream_gene_variant,,ENST00000411573,;AC003665.1,upstream_gene_variant,,ENST00000451140,;AC003665.1,upstream_gene_variant,,ENST00000433001,;RP11-6N17.6,downstream_gene_variant,,ENST00000582142,;AC003665.1,upstream_gene_variant,,ENST00000585280,;RP11-6N17.6,downstream_gene_variant,,ENST00000580372,;RP11-6N17.9,upstream_gene_variant,,ENST00000582262,;PNPO,missense_variant,p.Trp48Arg,ENST00000582171,;PNPO,missense_variant,p.Trp48Arg,ENST00000585320,;PNPO,3_prime_UTR_variant,,ENST00000583245,;PNPO,3_prime_UTR_variant,,ENST00000584061,;PNPO,upstream_gene_variant,,ENST00000584806,;							LOW	267/786		PNPO_HUMAN			Transcript			.	ENSP00000225573		CCDS11522.1			1	
ZNF680	0	LGGM	GRCh37	7	64004131	64004131	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	120	8	.	.	ENST00000309683.6:c.207A>G	p.Lys69=	p.K69=	ENST00000309683	NM_178558.4	69	aaA/aaG	0	1	1	UPI000019980A	0		ENST00000309683		ENSG00000173041	26897		128			HGNC	p.K69K		ZNF680		SNV							ENST00000447137	protein_coding			Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117,PROSITE_profiles:PS50805		K		C		359/3022							YES	ZNF680,synonymous_variant,p.=,ENST00000309683,NM_178558.4;ZNF680,synonymous_variant,p.=,ENST00000447137,NM_001130022.1;ZNF680,non_coding_transcript_exon_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000473601,;ZNF680,non_coding_transcript_exon_variant,,ENST00000470847,;							LOW	207/1593		ZN680_HUMAN			Transcript			.	ENSP00000309330		CCDS34644.1			1	
RP11-408E5.4	0	LGGM	GRCh37	13	19761452	19761452	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	1	8	.	.	ENST00000382988.2:c.226T>A	p.Trp76Arg	p.W76R	ENST00000382988		76	Tgg/Agg	0	1	1	UPI0000072C33	0		ENST00000382988		ENSG00000121388			9			Clone_based_vega_gene	p.W76R		RP11-408E5.4		SNV							ENST00000382988	protein_coding			hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30		W/R		A		421/465			tolerated(1)				YES	RP11-408E5.4,missense_variant,p.Trp76Arg,ENST00000382988,;							MODERATE	226/240		YM006_HUMAN			Transcript		benign(0.004)	.	ENSP00000372449					1	
OLFML2A	0	LGGM	GRCh37	9	127572565	127572565	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	10	8	.	.	ENST00000373580.3:c.1833C>T	p.Arg611=	p.R611=	ENST00000373580	NM_182487.2	611	cgC/cgT	0	1	1	UPI00001B6546	0		ENST00000373580		ENSG00000185585	27270		18			HGNC	p.R611R		OLFML2A		SNV							ENST00000373580	protein_coding			Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF29,SMART_domains:SM00284		R		T		1833/6425							YES	OLFML2A,synonymous_variant,p.=,ENST00000373580,NM_182487.2;OLFML2A,synonymous_variant,p.=,ENST00000288815,NM_001282715.1;							LOW	1833/1959		OLM2A_HUMAN			Transcript			.	ENSP00000362682		CCDS6857.2			1	
PRF1	0	LGGM	GRCh37	10	72360250	72360250	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	13	8	.	.	ENST00000441259.1:c.409C>G	p.Pro137Ala	p.P137A	ENST00000441259	NM_005041.4	137	Cct/Gct	0	1		UPI000013162B	0	getma.org/pdb.php?prot=PERF_HUMAN&from=27&to=375&var=P137A	ENST00000373209		ENSG00000180644	9360		21	2.48		HGNC	p.P137A		PRF1		SNV			1				ENST00000441259	protein_coding	getma.org/?cm=var&var=hg19,10,72360250,G,C&fts=all		PROSITE_profiles:PS51412		P/A		C	medium	528/2492		getma.org/?cm=msa&ty=f&p=PERF_HUMAN&rb=27&re=375&var=P137A	tolerated(0.48)	S5S2F2_HUMAN,S5RDP5_HUMAN				PRF1,missense_variant,p.Pro137Ala,ENST00000441259,NM_005041.4,NM_001083116.1;PRF1,missense_variant,p.Pro137Ala,ENST00000373209,;							MODERATE	409/1668	P137A	PERF_HUMAN			Transcript		benign(0.127)	.	ENSP00000362305		CCDS7305.1			1	
COL8A1	0	LGGM	GRCh37	3	99513307	99513307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	19	9	.	.	ENST00000261037.3:c.562G>T	p.Gly188Trp	p.G188W	ENST00000261037	NM_001850.4	188	Ggg/Tgg	0	1	1	UPI0000126D21	0	NA	ENST00000261037		ENSG00000144810	2215		28	4.36		HGNC	p.G188W		COL8A1		SNV							ENST00000261037	protein_coding	getma.org/?cm=var&var=hg19,3,99513307,G,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF61,Low_complexity_(Seg):seg		G/W		T	high	942/5705		getma.org/?cm=msa&ty=f&p=CO8A1_HUMAN&rb=157&re=214&var=G188W	deleterious(0)	C9JTN9_HUMAN			YES	COL8A1,missense_variant,p.Gly188Trp,ENST00000261037,NM_001850.4;COL8A1,missense_variant,p.Gly188Trp,ENST00000273342,NM_020351.3;COL8A1,downstream_gene_variant,,ENST00000452013,;							MODERATE	562/2235	G188W	CO8A1_HUMAN			Transcript		unknown(0)	.	ENSP00000261037		CCDS2934.1			1	
DGKB	0	LGGM	GRCh37	7	14378224	14378224	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	99	9	.	.	ENST00000403951.2:c.2041C>T	p.Arg681Ter	p.R681*	ENST00000403951		681	Cga/Tga	0	1		UPI0000033B9B	0	NA	ENST00000399322		ENSG00000136267	2850		108	0		HGNC	p.R673X	COSM280366	DGKB		SNV						1	ENST00000407950	protein_coding	getma.org/?cm=var&var=hg19,7,14378224,G,A&fts=all		SMART_domains:SM00045,Pfam_domain:PF00609,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF32		R/*		A	NA	2228/6684		NA		C9JA18_HUMAN,B7Z3B3_HUMAN				DGKB,stop_gained,p.Arg681Ter,ENST00000403951,;DGKB,stop_gained,p.Arg681Ter,ENST00000399322,NM_004080.2;DGKB,stop_gained,p.Arg681Ter,ENST00000258767,;DGKB,stop_gained,p.Arg680Ter,ENST00000402815,;DGKB,stop_gained,p.Arg673Ter,ENST00000407950,;DGKB,stop_gained,p.Arg662Ter,ENST00000444700,;DGKB,stop_gained,p.Arg681Ter,ENST00000406247,NM_145695.2;DGKB,non_coding_transcript_exon_variant,,ENST00000403963,;					1		HIGH	2041/2415	R681*	DGKB_HUMAN			Transcript			.	ENSP00000382260		CCDS47547.1			1	
BPTF	0	LGGM	GRCh37	17	65888019	65888019	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	14	9	.	.	ENST00000306378.6:c.1924A>C	p.Lys642Gln	p.K642Q	ENST00000306378	NM_182641.3	642	Aaa/Caa	0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		23	0.895		HGNC	p.K768Q		BPTF		SNV							ENST00000335221	protein_coding	getma.org/?cm=var&var=hg19,17,65888019,A,C&fts=all		hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		K/Q		C	low	2363/11292		getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=638&re=837&var=K768Q						BPTF,missense_variant,p.Lys768Gln,ENST00000321892,;BPTF,missense_variant,p.Lys768Gln,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Lys642Gln,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Lys629Gln,ENST00000424123,;BPTF,missense_variant,p.Lys705Gln,ENST00000544778,;BPTF,missense_variant,p.Lys118Gln,ENST00000544491,;BPTF,non_coding_transcript_exon_variant,,ENST00000579173,;BPTF,upstream_gene_variant,,ENST00000467104,;							MODERATE	2302/9141	K768Q	BPTF_HUMAN			Transcript		benign(0.066)	.	ENSP00000315454					1	
RAG2	0	LGGM	GRCh37	11	36615212	36615212	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	67	9	.	.	ENST00000311485.3:c.507A>G	p.Thr169=	p.T169=	ENST00000311485	NM_000536.3	169	acA/acG	0	1	1	UPI00001330E9	0		ENST00000311485		ENSG00000175097	9832		76			HGNC	p.T169T		RAG2		SNV			1				ENST00000311485	protein_coding			Superfamily_domains:0047741,Gene3D:1zgkA00,Pfam_domain:PF03089,hmmpanther:PTHR10960,hmmpanther:PTHR10960:SF0		T		C		669/2388				Q9BYY1_HUMAN,Q71UK1_HUMAN,E9PQB9_HUMAN,E9PPU5_HUMAN			YES	RAG2,synonymous_variant,p.=,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,;							LOW	507/1584		RAG2_HUMAN			Transcript			.	ENSP00000308620		CCDS7903.1			1	
IL32	0	LGGM	GRCh37	16	3119304	3119305	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H080775	H080775N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	27	15	.	.	ENST00000525643.2:c.515_516insG	p.Asp172GlufsTer12	p.D172Efs*12	ENST00000525643		172	gac/gaGc	0	1		UPI0000070836	0		ENST00000396890		ENSG00000008517	16830		42			HGNC	p.D172fs	rs398100042	IL32		insertion							ENST00000528163	protein_coding					D/EX		G		730-731/1067				F8VSD2_HUMAN,E9PIV2_HUMAN,C6GKH2_HUMAN				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,;							HIGH	653-654/705		IL32_HUMAN			Transcript			.	ENSP00000380099					1	
RPP14	0	LGGM	GRCh37	3	58302241	58302241	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	49	10	.	.	ENST00000445193.3:c.163-1G>A		p.X55_splice	ENST00000445193	NM_001098783.2			0	1		UPI000013E2DD	0		ENST00000295959		ENSG00000163684	30327		59			HGNC	-		RPP14		SNV							ENST00000445193	protein_coding							A		-/3121								RPP14,splice_acceptor_variant,,ENST00000445193,NM_001098783.2;RPP14,splice_acceptor_variant,,ENST00000295959,NM_007042.4;RPP14,splice_acceptor_variant,,ENST00000466547,;RPP14,upstream_gene_variant,,ENST00000528153,;RPP14,splice_acceptor_variant,,ENST00000461393,;RPP14,splice_acceptor_variant,,ENST00000481972,;RPP14,splice_acceptor_variant,,ENST00000474660,;RPP14,splice_acceptor_variant,,ENST00000476007,;RPP14,splice_acceptor_variant,,ENST00000475412,;RPP14,splice_acceptor_variant,,ENST00000498618,;RPP14,splice_acceptor_variant,,ENST00000461797,;RPP14,non_coding_transcript_exon_variant,,ENST00000477305,;RPP14,upstream_gene_variant,,ENST00000462046,;RPP14,splice_acceptor_variant,,ENST00000463550,;							HIGH	163/375		RPP14_HUMAN			Transcript			.	ENSP00000295959		CCDS2888.1			1	
OR2V2	0	LGGM	GRCh37	5	180582096	180582096	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	116	10	.	.	ENST00000328275.1:c.154A>C	p.Met52Leu	p.M52L	ENST00000328275	NM_206880.1	52	Atg/Ctg	0	1	1	UPI0000041C79	0	getma.org/pdb.php?prot=OR2V2_HUMAN&from=1&to=139&var=M52L	ENST00000328275		ENSG00000182613	15341		126	-1.95		HGNC	p.M52L	rs775571628	OR2V2		SNV				0.000964			ENST00000328275	protein_coding	getma.org/?cm=var&var=hg19,5,180582096,A,C&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF235,Superfamily_domains:SSF81321		M/L		C	neutral	154/948		getma.org/?cm=msa&ty=f&p=OR2V2_HUMAN&rb=1&re=139&var=M52L	tolerated(1)				YES	OR2V2,missense_variant,p.Met52Leu,ENST00000328275,NM_206880.1;							MODERATE	154/948	M52L	OR2V2_HUMAN			Transcript		benign(0)	common_variant	ENSP00000332185	8.24E-05	CCDS4461.1			1	
DNAJA1	0	LGGM	GRCh37	9	33030597	33030597	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	17	10	.	.	ENST00000330899.4:c.575G>A	p.Arg192Lys	p.R192K	ENST00000330899	NM_001539.2	192	aGa/aAa	0	1	1	UPI0000129431	0	getma.org/pdb.php?prot=DNJA1_HUMAN&from=134&to=200&var=R192K	ENST00000330899		ENSG00000086061	5229		27	0.88		HGNC	p.R192K		DNAJA1		SNV							ENST00000330899	protein_coding	getma.org/?cm=var&var=hg19,9,33030597,G,A&fts=all		HAMAP:MF_01152,PROSITE_profiles:PS51188,hmmpanther:PTHR24076:SF94,hmmpanther:PTHR24076,Gene3D:2.10.230.10,Pfam_domain:PF00684,Superfamily_domains:SSF57938		R/K		A	low	758/2381		getma.org/?cm=msa&ty=f&p=DNJA1_HUMAN&rb=134&re=200&var=R192K	tolerated(0.19)	B7Z5C0_HUMAN			YES	DNAJA1,missense_variant,p.Arg192Lys,ENST00000330899,NM_001539.2;DNAJA1,missense_variant,p.Arg35Lys,ENST00000544625,;DNAJA1,intron_variant,,ENST00000495015,;DNAJA1,upstream_gene_variant,,ENST00000465677,;							MODERATE	575/1194	R192K	DNJA1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000369127		CCDS6533.1			1	
ATP10A	0	LGGM	GRCh37	15	25953381	25953381	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	35	10	.	.	ENST00000356865.6:c.2411C>T	p.Ala804Val	p.A804V	ENST00000356865	NM_024490.3	804	gCg/gTg	0	1	1	UPI0000124FAB	0	getma.org/pdb.php?prot=AT10A_HUMAN&from=424&to=1040&var=A804V	ENST00000356865		ENSG00000206190	13542	8.64E-05	45	4.19		HGNC	p.A804V	rs763990614,COSM959996	ATP10A		SNV			1			0,1	ENST00000356865	protein_coding	getma.org/?cm=var&var=hg19,15,25953381,G,A&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Superfamily_domains:SSF81660		A/V		A	high	2523/6680		getma.org/?cm=msa&ty=f&p=AT10A_HUMAN&rb=424&re=1040&var=A804V	deleterious(0)				YES	ATP10A,missense_variant,p.Ala804Val,ENST00000356865,NM_024490.3;ATP10A,3_prime_UTR_variant,,ENST00000555815,;					0,1		MODERATE	2411/4500	A804V	AT10A_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000349325	8.24E-06	CCDS32178.1			1	
PDE4C	0	LGGM	GRCh37	19	18327627	18327627	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	49	10	.	.	ENST00000355502.3:c.1409A>T	p.Gln470Leu	p.Q470L	ENST00000355502		470	cAg/cTg	0	1	1	UPI0000127BF8	0	getma.org/pdb.php?prot=PDE4C_HUMAN&from=387&to=631&var=Q470L	ENST00000355502		ENSG00000105650	8782		59	1.675		HGNC	p.Q364L		PDE4C		SNV							ENST00000447275	protein_coding	getma.org/?cm=var&var=hg19,19,18327627,T,A&fts=all		Gene3D:1.10.1300.10,Pfam_domain:PF00233,Prints_domain:PR00387,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF94,SMART_domains:SM00471,Superfamily_domains:SSF109604		Q/L		A	low	2281/5979		getma.org/?cm=msa&ty=f&p=PDE4C_HUMAN&rb=387&re=631&var=Q470L	deleterious(0.02)	Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN			YES	PDE4C,missense_variant,p.Gln470Leu,ENST00000355502,;PDE4C,missense_variant,p.Gln470Leu,ENST00000594617,NM_000923.4;PDE4C,missense_variant,p.Gln470Leu,ENST00000594465,;PDE4C,missense_variant,p.Gln364Leu,ENST00000447275,NM_001098819.2;PDE4C,missense_variant,p.Gln438Leu,ENST00000262805,NM_001098818.2;PDE4C,missense_variant,p.Gln239Leu,ENST00000539010,;PDE4C,missense_variant,p.Gln240Leu,ENST00000597297,;PDE4C,missense_variant,p.Gln185Leu,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,;							MODERATE	1409/2139	Q470L	PDE4C_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000347689		CCDS12373.1			1	
METTL13	0	LGGM	GRCh37	1	171759707	171759707	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	72	10	.	.	ENST00000361735.3:c.1425A>T	p.Lys475Asn	p.K475N	ENST00000361735	NM_015935.4	475	aaA/aaT	0	1	1	UPI000006DE3D	0	getma.org/pdb.php?prot=MET13_HUMAN&from=401&to=600&var=K475N	ENST00000361735		ENSG00000010165	24248		82	2.19		HGNC	p.K319N		METTL13		SNV							ENST00000367737	protein_coding	getma.org/?cm=var&var=hg19,1,171759707,A,T&fts=all		Gene3D:3.40.50.150,hmmpanther:PTHR12176,hmmpanther:PTHR12176:SF13,Superfamily_domains:SSF53335		K/N		T	medium	1691/3327		getma.org/?cm=msa&ty=f&p=MET13_HUMAN&rb=401&re=600&var=K475N	tolerated(0.25)	C4B4C6_HUMAN			YES	METTL13,missense_variant,p.Lys475Asn,ENST00000361735,NM_015935.4;METTL13,missense_variant,p.Lys389Asn,ENST00000362019,NM_014955.2;METTL13,missense_variant,p.Lys319Asn,ENST00000367737,NM_001007239.1;METTL13,missense_variant,p.Lys474Asn,ENST00000458517,;METTL13,non_coding_transcript_exon_variant,,ENST00000478330,;METTL13,intron_variant,,ENST00000466643,;METTL13,downstream_gene_variant,,ENST00000485629,;METTL13,upstream_gene_variant,,ENST00000476386,;							MODERATE	1425/2100	K475N	MET13_HUMAN			Transcript		benign(0.359)	.	ENSP00000354920		CCDS1299.1			1	
FZD9	0	LGGM	GRCh37	7	72849781	72849793	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCAGCCATGCG	GAGCAGCCATGCG	-	novel	by Submitter	H080775	H080775N.bam	GAGCAGCCATGCG	GAGCAGCCATGCG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	16	11	.	.	ENST00000344575.3:c.1444_1456del	p.Glu482GlnfsTer60	p.E482Qfs*60	ENST00000344575	NM_003508.2	482	GAGCAGCCATGCGca/ca	0	1	1	UPI000004EC98	0		ENST00000344575		ENSG00000188763	4047		27			HGNC	p.482_486del		FZD9		deletion							ENST00000344575	protein_coding			Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Low_complexity_(Seg):seg		EQPCA/X		-		1673-1685/2342							YES	FZD9,frameshift_variant,p.Glu482GlnfsTer60,ENST00000344575,NM_003508.2;BAZ1B,downstream_gene_variant,,ENST00000339594,NM_032408.3;							HIGH	1444-1456/1776		FZD9_HUMAN			Transcript			.	ENSP00000345785		CCDS5548.1			1	
BTBD10	0	LGGM	GRCh37	11	13424792	13424792	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	102	11	.	.	ENST00000278174.5:c.1040A>T	p.Lys347Met	p.K347M	ENST00000278174	NM_032320.5	347	aAg/aTg	0	1	1	UPI00000622BE	0	NA	ENST00000278174		ENSG00000148925	21445		113	2.05		HGNC	p.K347M		BTBD10		SNV							ENST00000278174	protein_coding	getma.org/?cm=var&var=hg19,11,13424792,T,A&fts=all		hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF4		K/M		A	medium	1286/2504		getma.org/?cm=msa&ty=f&p=BTBDA_HUMAN&rb=290&re=473&var=K347M	deleterious(0)	Q7L2U6_HUMAN,Q6P5W1_HUMAN,E9PPD8_HUMAN,E9PKM7_HUMAN,D3DQW7_HUMAN,B7Z503_HUMAN			YES	BTBD10,missense_variant,p.Lys347Met,ENST00000278174,NM_032320.5;BTBD10,missense_variant,p.Lys355Met,ENST00000530907,;BTBD10,missense_variant,p.Lys299Met,ENST00000528120,;BTBD10,3_prime_UTR_variant,,ENST00000527102,;BTBD10,downstream_gene_variant,,ENST00000525864,;BTBD10,downstream_gene_variant,,ENST00000525108,;BTBD10,downstream_gene_variant,,ENST00000525661,;							MODERATE	1040/1428	K347M	BTBDA_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000278174		CCDS7811.1			1	
TRAV6	0	LGGM	GRCh37	14	22237205	22237205	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	64	12	.	.	ENST00000390428.3:c.282A>T	p.Lys94Asn	p.K94N	ENST00000390428		94	aaA/aaT	0	1	1	UPI000204A972	0		ENST00000390428		ENSG00000211780	12144		76			HGNC	p.K94N		TRAV6		SNV							ENST00000390428	TR_V_gene			Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19433,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		K/N		T		289/404			tolerated(0.52)				YES	TRAV6,missense_variant,p.Lys94Asn,ENST00000390428,;							MODERATE	282/397					Transcript		benign(0.236)	.	ENSP00000438290					1	
ZNF681	0	LGGM	GRCh37	19	23927015	23927015	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	57	12	.	.	ENST00000402377.3:c.1337A>T	p.Glu446Val	p.E446V	ENST00000402377	NM_138286.2	446	gAa/gTa	0	1	1	UPI000022ABC8	0	getma.org/pdb.php?prot=ZN681_HUMAN&from=436&to=461&var=E446V	ENST00000402377		ENSG00000196172	26457		69	0.35		HGNC	p.E377V		ZNF681		SNV							ENST00000395385	protein_coding	getma.org/?cm=var&var=hg19,19,23927015,T,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Superfamily_domains:SSF57667		E/V		A	neutral	1479/6497		getma.org/?cm=msa&ty=f&p=ZN681_HUMAN&rb=416&re=481&var=E446V	deleterious(0.02)	E9PSC0_HUMAN,E9PJB6_HUMAN			YES	ZNF681,missense_variant,p.Glu446Val,ENST00000402377,NM_138286.2;ZNF681,missense_variant,p.Glu377Val,ENST00000395385,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;							MODERATE	1337/1938	E446V	ZN681_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000384000		CCDS12414.2			1	
BSCL2	0	LGGM	GRCh37	11	62458564	62458564	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	20	12	.	.	ENST00000433053.1:c.1055T>A	p.Ile352Asn	p.I352N	ENST00000433053		352	aTc/aAc	0	1		UPI000005334B	0		ENST00000403550		ENSG00000168000	15832		32			HGNC	p.I37N		BSCL2		SNV			1				ENST00000449636	protein_coding			hmmpanther:PTHR21212,hmmpanther:PTHR21212:SF0		I/N		T		1287/1693			tolerated(0.44)	F8W7Q8_HUMAN,E9PRU2_HUMAN				BSCL2,missense_variant,p.Ile352Asn,ENST00000433053,;BSCL2,missense_variant,p.Ile352Asn,ENST00000405837,;BSCL2,missense_variant,p.Ile288Asn,ENST00000403550,;BSCL2,missense_variant,p.Ile352Asn,ENST00000360796,NM_001122955.3;BSCL2,missense_variant,p.Ile288Asn,ENST00000407022,NM_032667.6;BSCL2,missense_variant,p.Ile288Asn,ENST00000421906,;BSCL2,missense_variant,p.Ser241Thr,ENST00000278893,NM_001130702.2;BSCL2,missense_variant,p.Ile37Asn,ENST00000449636,;BSCL2,intron_variant,,ENST00000403098,;LRRN4CL,upstream_gene_variant,,ENST00000317449,NM_203422.3;BSCL2,downstream_gene_variant,,ENST00000448568,;BSCL2,downstream_gene_variant,,ENST00000524862,;BSCL2,downstream_gene_variant,,ENST00000531524,;BSCL2,downstream_gene_variant,,ENST00000533982,;BSCL2,downstream_gene_variant,,ENST00000525000,;BSCL2,downstream_gene_variant,,ENST00000537604,;BSCL2,downstream_gene_variant,,ENST00000412351,;BSCL2,downstream_gene_variant,,ENST00000530900,;BSCL2,downstream_gene_variant,,ENST00000526426,;BSCL2,downstream_gene_variant,,ENST00000532115,;HNRNPUL2-BSCL2,3_prime_UTR_variant,,ENST00000403734,;BSCL2,3_prime_UTR_variant,,ENST00000301781,;BSCL2,non_coding_transcript_exon_variant,,ENST00000463679,;BSCL2,non_coding_transcript_exon_variant,,ENST00000468505,;BSCL2,non_coding_transcript_exon_variant,,ENST00000470529,;							MODERATE	863/1197		BSCL2_HUMAN			Transcript		benign(0.021)	.	ENSP00000385561		CCDS8031.1			1	
TOMM40L	0	LGGM	GRCh37	1	161198044	161198044	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	20	12	.	.	ENST00000367988.3:c.553C>T	p.His185Tyr	p.H185Y	ENST00000367988	NM_032174.4	185	Cac/Tac	0	1		UPI000006F917	0	NA	ENST00000367987		ENSG00000158882	25756		32	1.935		HGNC	p.H185Y	COSM1499217	TOMM40L		SNV						1	ENST00000367987	protein_coding	getma.org/?cm=var&var=hg19,1,161198044,C,T&fts=all		Gene3D:2.40.160.10,Pfam_domain:PF01459,hmmpanther:PTHR10802,hmmpanther:PTHR10802:SF0		H/Y		T	medium	739/2636		getma.org/?cm=msa&ty=f&p=TM40L_HUMAN&rb=26&re=302&var=H185Y	deleterious(0.01)					TOMM40L,missense_variant,p.His185Tyr,ENST00000367988,NM_032174.4;TOMM40L,missense_variant,p.His185Tyr,ENST00000367987,;TOMM40L,missense_variant,p.His151Tyr,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,,ENST00000367985,;NR1I3,downstream_gene_variant,,ENST00000367979,;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,;					1		MODERATE	553/927	H185Y	TM40L_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000356966		CCDS1227.1			1	
NR2F1	0	LGGM	GRCh37	5	92923744	92923744	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	40	13	.	.	ENST00000327111.3:c.585C>T	p.Ala195=	p.A195=	ENST00000327111	NM_005654.4	195	gcC/gcT	0	1	1	UPI0000000C58	0		ENST00000327111		ENSG00000175745	7975		53			HGNC	p.A195A	COSM3856898	NR2F1		SNV			1			1	ENST00000327111	protein_coding			hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF46,Gene3D:1.10.565.10,Superfamily_domains:SSF48508,Prints_domain:PR01282		A		T		2272/3732							YES	NR2F1,synonymous_variant,p.=,ENST00000327111,NM_005654.4;NR2F1-AS1,upstream_gene_variant,,ENST00000513055,;NR2F1,non_coding_transcript_exon_variant,,ENST00000502982,;NR2F1,non_coding_transcript_exon_variant,,ENST00000512697,;NR2F1,upstream_gene_variant,,ENST00000506162,;					1		LOW	585/1272		COT1_HUMAN			Transcript			.	ENSP00000325819		CCDS4068.1			1	
ZNF681	0	LGGM	GRCh37	19	23927016	23927016	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	57	13	.	.	ENST00000402377.3:c.1336G>T	p.Glu446Ter	p.E446*	ENST00000402377	NM_138286.2	446	Gaa/Taa	0	1	1	UPI000022ABC8	0	NA	ENST00000402377		ENSG00000196172	26457		70	0		HGNC	p.E377X		ZNF681		SNV							ENST00000395385	protein_coding	getma.org/?cm=var&var=hg19,19,23927016,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,Superfamily_domains:SSF57667		E/*		A	NA	1478/6497		NA		E9PSC0_HUMAN,E9PJB6_HUMAN			YES	ZNF681,stop_gained,p.Glu446Ter,ENST00000402377,NM_138286.2;ZNF681,stop_gained,p.Glu377Ter,ENST00000395385,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;							HIGH	1336/1938	E446*	ZN681_HUMAN			Transcript			.	ENSP00000384000		CCDS12414.2			1	
RANBP2	0	LGGM	GRCh37	2	109383364	109383364	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	219	13	.	.	ENST00000283195.6:c.6369A>G	p.Ala2123=	p.A2123=	ENST00000283195	NM_006267.4	2123	gcA/gcG	0	1	1	UPI0000207FB9	0		ENST00000283195		ENSG00000153201	9848		232			HGNC	p.A1147A		RANBP2		SNV			1				ENST00000409491	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF00638,PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,SMART_domains:SM00160,Superfamily_domains:SSF50729		A		G		6495/11711				I1Z9D1_HUMAN			YES	RANBP2,synonymous_variant,p.=,ENST00000283195,NM_006267.4;							LOW	6369/9675		RBP2_HUMAN			Transcript			.	ENSP00000283195		CCDS2079.1			1	
CLEC12B	0	LGGM	GRCh37	12	10167327	10167327	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	4	13	.	.	ENST00000338896.5:c.396C>A	p.Ile132=	p.I132=	ENST00000338896	NM_001129998.1	132	atC/atA	0	1	1	UPI000036687A	0		ENST00000338896		ENSG00000256660	31966		17			HGNC	p.I132I	rs774651746	CLEC12B		SNV							ENST00000544853	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF08391,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF151,Superfamily_domains:SSF56436		I		A		524/1097	4.54E-05						YES	CLEC12B,synonymous_variant,p.=,ENST00000396502,NM_205852.2;CLEC12B,synonymous_variant,p.=,ENST00000338896,NM_001129998.1;CLEC1B,upstream_gene_variant,,ENST00000428126,;RP11-133L14.5,downstream_gene_variant,,ENST00000544225,;CLEC12B,synonymous_variant,p.=,ENST00000544853,;CLEC12B,3_prime_UTR_variant,,ENST00000539155,;CLEC12B,downstream_gene_variant,,ENST00000535903,;							LOW	396/831		CL12B_HUMAN			Transcript			.	ENSP00000344563	2.47E-05	CCDS44830.1			1	
ARL5B	0	LGGM	GRCh37	10	18962919	18962919	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	19	13	.	.	ENST00000377275.3:c.346C>G	p.Arg116Gly	p.R116G	ENST00000377275	NM_178815.3	116	Cgg/Ggg	0	1	1	UPI000006F7A5	0	getma.org/pdb.php?prot=ARL5B_HUMAN&from=1&to=176&var=R116G	ENST00000377275		ENSG00000165997	23052		32	1.89		HGNC	p.R116G		ARL5B		SNV							ENST00000377275	protein_coding	getma.org/?cm=var&var=hg19,10,18962919,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00025,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF146,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/G		G	low	579/7196		getma.org/?cm=msa&ty=f&p=ARL5B_HUMAN&rb=1&re=176&var=R116G	deleterious(0.01)	B0YIW9_HUMAN			YES	ARL5B,missense_variant,p.Arg116Gly,ENST00000377275,NM_178815.3;							MODERATE	346/540	R116G	ARL5B_HUMAN			Transcript		benign(0.215)	.	ENSP00000366487		CCDS7131.1			1	
STARD6	0	LGGM	GRCh37	18	51851088	51851088	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	14	14	.	.	ENST00000581310.1:c.637G>A	p.Gly213Arg	p.G213R	ENST00000581310		213	Gga/Aga	0	1		UPI0000136137	0	NA	ENST00000307844		ENSG00000174448	18066		28	1.61		HGNC	p.G89R	COSM3526465	STARD6		SNV						1	ENST00000580990	protein_coding	getma.org/?cm=var&var=hg19,18,51851088,C,T&fts=all		hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF7		G/R		T	low	637/663		getma.org/?cm=msa&ty=f&p=STAR6_HUMAN&rb=180&re=220&var=G213R	tolerated(0.09)					STARD6,missense_variant,p.Gly213Arg,ENST00000581310,;STARD6,missense_variant,p.Gly89Arg,ENST00000580990,;STARD6,missense_variant,p.Gly213Arg,ENST00000307844,NM_139171.1;POLI,downstream_gene_variant,,ENST00000579823,;					1		MODERATE	637/663	G213R	STAR6_HUMAN			Transcript		benign(0.01)	.	ENSP00000310814		CCDS11955.1			1	
ZNF365	0	LGGM	GRCh37	10	64148155	64148155	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	13	15	.	.	ENST00000410046.3:c.744A>G	p.Glu248=	p.E248=	ENST00000410046	NM_199451.2	248	gaA/gaG	0	1		UPI000013D112	0		ENST00000395254		ENSG00000138311	18194		28			HGNC	p.E248E		ZNF365		SNV			1				ENST00000395254	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15739,Low_complexity_(Seg):seg		E		G		1024/4173				C9J1G1_HUMAN				ZNF365,splice_region_variant,p.=,ENST00000395254,NM_014951.2;ZNF365,splice_region_variant,p.=,ENST00000410046,NM_199451.2;ZNF365,splice_region_variant,p.=,ENST00000395255,NM_199450.2;ZNF365,splice_region_variant,,ENST00000466727,;							LOW	744/1224		ZN365_HUMAN			Transcript			.	ENSP00000378674		CCDS31209.1			1	
ABCA7	0	LGGM	GRCh37	19	1050993	1050993	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	51	16	.	.	ENST00000263094.6:c.2626A>G	p.Met876Val	p.M876V	ENST00000263094	NM_019112.3	876	Atg/Gtg	0	1	1	UPI000013D3A4	0	getma.org/pdb.php?prot=ABCA7_HUMAN&from=848&to=968&var=M876V	ENST00000263094		ENSG00000064687	37	0.000173	67	1.11		HGNC	p.M876V	rs753349818	ABCA7		SNV							ENST00000433129	protein_coding	getma.org/?cm=var&var=hg19,19,1050993,A,G&fts=all		PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540		M/V		G	low	2857/6816		getma.org/?cm=msa&ty=f&p=ABCA7_HUMAN&rb=848&re=968&var=M876V	deleterious(0.01)	E9PL63_HUMAN			YES	ABCA7,missense_variant,p.Met876Val,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Met876Val,ENST00000433129,;ABCA7,missense_variant,p.Met738Val,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,upstream_gene_variant,,ENST00000530092,;							MODERATE	2626/6441	M876V	ABCA7_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000263094	1.66E-05	CCDS12055.1			1	
ZNF492	0	LGGM	GRCh37	19	22846884	22846884	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	33	16	.	.	ENST00000456783.2:c.413A>G	p.Lys138Arg	p.K138R	ENST00000456783	NM_020855.2	138	aAg/aGg	0	1	1	UPI00001C200B	0	getma.org/pdb.php?prot=ZN492_HUMAN&from=127&to=150&var=K138R	ENST00000456783		ENSG00000229676	23707		49	1.21		HGNC	p.K138R		ZNF492		SNV							ENST00000456783	protein_coding	getma.org/?cm=var&var=hg19,19,22846884,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		K/R		G	low	657/4245		getma.org/?cm=msa&ty=f&p=ZN492_HUMAN&rb=107&re=170&var=K138R	deleterious(0.04)				YES	ZNF492,missense_variant,p.Lys138Arg,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;							MODERATE	413/1596	K138R	ZN492_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000413660		CCDS46032.1			1	
FCRL2	0	LGGM	GRCh37	1	157718396	157718396	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	96	16	.	.	ENST00000361516.3:c.1406A>G	p.Asp469Gly	p.D469G	ENST00000361516	NM_030764.3	469	gAt/gGt	0	1	1	UPI000006E1F3	0	NA	ENST00000361516		ENSG00000132704	14875		112	1.295		HGNC	p.D469G		FCRL2		SNV							ENST00000361516	protein_coding	getma.org/?cm=var&var=hg19,1,157718396,T,C&fts=all		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF41,Low_complexity_(Seg):seg		D/G		C	low	1455/2579		getma.org/?cm=msa&ty=f&p=FCRL2_HUMAN&rb=373&re=508&var=D469G	tolerated(0.32)				YES	FCRL2,missense_variant,p.Asp469Gly,ENST00000361516,NM_030764.3;FCRL2,intron_variant,,ENST00000368181,;FCRL2,intron_variant,,ENST00000392274,;FCRL2,non_coding_transcript_exon_variant,,ENST00000368178,;							MODERATE	1406/1527	D469G	FCRL2_HUMAN			Transcript		benign(0.03)	.	ENSP00000355157		CCDS1168.1			1	
SFMBT1	0	LGGM	GRCh37	3	52941611	52941611	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	33	16	.	.	ENST00000394752.3:c.2045C>T	p.Ser682Phe	p.S682F	ENST00000394752	NM_016329.3	682	tCc/tTc	0	1	1	UPI0000070BC6	0	NA	ENST00000394752		ENSG00000163935	20255		49	2.33		HGNC	p.S682F		SFMBT1		SNV							ENST00000358080	protein_coding	getma.org/?cm=var&var=hg19,3,52941611,G,A&fts=all		hmmpanther:PTHR12247:SF77,hmmpanther:PTHR12247		S/F		A	medium	2428/4548		getma.org/?cm=msa&ty=f&p=SMBT1_HUMAN&rb=630&re=793&var=S682F	deleterious(0)	C9JWI3_HUMAN,C9IZZ5_HUMAN,C9IY64_HUMAN			YES	SFMBT1,missense_variant,p.Ser682Phe,ENST00000394752,NM_016329.3;SFMBT1,missense_variant,p.Ser682Phe,ENST00000394750,;SFMBT1,missense_variant,p.Ser682Phe,ENST00000358080,;SFMBT1,missense_variant,p.Ser682Phe,ENST00000296295,;							MODERATE	2045/2601	S682F	SMBT1_HUMAN			Transcript		benign(0.305)	.	ENSP00000378235		CCDS2867.1			1	
CLEC5A	0	LGGM	GRCh37	7	141631500	141631500	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	83	16	.	.	ENST00000546910.1:c.452+20T>A		*151*	ENST00000546910	NM_013252.2			0	1	1	UPI0000071CCD	0		ENST00000546910		ENSG00000258227	2054		99			HGNC	p.F135I		CLEC5A		SNV							ENST00000438351	protein_coding							T		-/3511				A4D1U7_HUMAN			YES	CLEC5A,missense_variant,p.Phe135Ile,ENST00000438351,;CLEC5A,intron_variant,,ENST00000546910,NM_013252.2;CLEC5A,intron_variant,,ENST00000551012,;MGAM,intron_variant,,ENST00000465654,;CLEC5A,intron_variant,,ENST00000439991,;MGAM,non_coding_transcript_exon_variant,,ENST00000497554,;CLEC5A,non_coding_transcript_exon_variant,,ENST00000470595,;CLEC5A,intron_variant,,ENST00000418498,;CLEC5A,downstream_gene_variant,,ENST00000481301,;							MODIFIER	-/567		CLC5A_HUMAN			Transcript			.	ENSP00000449999		CCDS5870.1			1	
PPP2R4	0	LGGM	GRCh37	9	131898787	131898787	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	58	18	.	.	ENST00000393370.2:c.598A>T	p.Arg200Trp	p.R200W	ENST00000393370	NM_178000.2	200	Agg/Tgg	0	1		UPI000013D6D5	0	getma.org/pdb.php?prot=PTPA_HUMAN&from=25&to=358&var=R235W	ENST00000337738		ENSG00000119383	9308		76	1.23		HGNC	p.R165W		PPP2R4		SNV							ENST00000417728	protein_coding	getma.org/?cm=var&var=hg19,9,131898787,A,T&fts=all		hmmpanther:PTHR10012,Pfam_domain:PF03095,PIRSF_domain:PIRSF016325,Superfamily_domains:SSF140984		R/W		T	low	970/2824		getma.org/?cm=msa&ty=f&p=PTPA_HUMAN&rb=25&re=358&var=R235W	deleterious(0)	Q5T949_HUMAN,Q5T948_HUMAN,C9IZ76_HUMAN,B7ZBQ0_HUMAN				PPP2R4,missense_variant,p.Arg235Trp,ENST00000337738,NM_178001.2;PPP2R4,missense_variant,p.Arg200Trp,ENST00000393370,NM_178000.2;PPP2R4,missense_variant,p.Arg206Trp,ENST00000348141,;PPP2R4,missense_variant,p.Arg200Trp,ENST00000358994,NM_021131.4;PPP2R4,missense_variant,p.Arg171Trp,ENST00000357197,NM_001271832.1;PPP2R4,missense_variant,p.Arg158Trp,ENST00000355007,NM_178003.2;PPP2R4,missense_variant,p.Arg235Trp,ENST00000452489,;PPP2R4,missense_variant,p.Arg165Trp,ENST00000417728,NM_001193397.1;PPP2R4,missense_variant,p.Arg235Trp,ENST00000445241,;PPP2R4,missense_variant,p.Arg235Trp,ENST00000455292,;PPP2R4,missense_variant,p.Arg5Trp,ENST00000411917,;PPP2R4,missense_variant,p.Arg14Trp,ENST00000455240,;PPP2R4,intron_variant,,ENST00000347048,;PPP2R4,upstream_gene_variant,,ENST00000524946,;PPP2R4,upstream_gene_variant,,ENST00000414510,;PPP2R4,upstream_gene_variant,,ENST00000423100,;PPP2R4,downstream_gene_variant,,ENST00000414331,;PPP2R4,downstream_gene_variant,,ENST00000417504,;PPP2R4,upstream_gene_variant,,ENST00000432124,;PPP2R4,downstream_gene_variant,,ENST00000453358,;PPP2R4,upstream_gene_variant,,ENST00000436883,;PPP2R4,upstream_gene_variant,,ENST00000435305,;							MODERATE	703/1077	R235W	PTPA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337448					1	
GSG1	0	LGGM	GRCh37	12	13243454	13243454	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	5	18	.	.	ENST00000432710.2:c.347A>C	p.Glu116Ala	p.E116A	ENST00000432710	NM_001206842.1	116	gAa/gCa	0	1	1	UPI00001413B2	0	NA	ENST00000432710		ENSG00000111305	19716		23	2.8		HGNC	p.E116A		GSG1		SNV							ENST00000324458	protein_coding	getma.org/?cm=var&var=hg19,12,13243454,T,G&fts=all		hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF33,Pfam_domain:PF07803		E/A		G	medium	480/1231		getma.org/?cm=msa&ty=f&p=GSG1_HUMAN&rb=8&re=148&var=E103A	deleterious(0)				YES	GSG1,missense_variant,p.Glu103Ala,ENST00000337630,NM_153823.3;GSG1,missense_variant,p.Glu116Ala,ENST00000324458,NM_001080555.2;GSG1,missense_variant,p.Glu100Ala,ENST00000396310,NM_001206843.1;GSG1,missense_variant,p.Glu103Ala,ENST00000396302,NM_031289.3;GSG1,missense_variant,p.Glu116Ala,ENST00000351606,NM_001080554.2;GSG1,missense_variant,p.Glu116Ala,ENST00000432710,NM_001206842.1;GSG1,missense_variant,p.Glu103Ala,ENST00000457134,NM_001206845.1;GSG1,missense_variant,p.Glu103Ala,ENST00000537302,;GSG1,missense_variant,p.Glu116Ala,ENST00000545401,;GSG1,missense_variant,p.Glu116Ala,ENST00000542415,;GSG1,missense_variant,p.Glu103Ala,ENST00000545699,;KIAA1467,intron_variant,,ENST00000537625,;							MODERATE	347/1020	E103A	GSG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000405032		CCDS55808.1			1	
TRIM33	0	LGGM	GRCh37	1	114968262	114968262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	32	20	.	.	ENST00000358465.2:c.1504A>T	p.Ile502Phe	p.I502F	ENST00000358465	NM_015906.3	502	Att/Ttt	0	1	1	UPI000013D8CD	0	NA	ENST00000358465		ENSG00000197323	16290		52	0		HGNC	p.I502F		TRIM33		SNV			1				ENST00000369543	protein_coding	getma.org/?cm=var&var=hg19,1,114968262,T,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF118		I/F		A	neutral	1588/8339		getma.org/?cm=msa&ty=f&p=TRI33_HUMAN&rb=313&re=512&var=I502F	tolerated(0.72)				YES	TRIM33,missense_variant,p.Ile502Phe,ENST00000358465,NM_015906.3;TRIM33,missense_variant,p.Ile502Phe,ENST00000369543,NM_033020.2;TRIM33,missense_variant,p.Ile110Phe,ENST00000450349,;TRIM33,missense_variant,p.Ile239Phe,ENST00000448034,;							MODERATE	1504/3384	I502F	TRI33_HUMAN			Transcript		benign(0.1)	.	ENSP00000351250		CCDS872.1			1	
BMPR1A	0	LGGM	GRCh37	10	88683151	88683151	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	27	22	.	.	ENST00000372037.3:c.1361A>G	p.Gln454Arg	p.Q454R	ENST00000372037	NM_004329.2	454	cAa/cGa	0	1	1	UPI000006EB08	0	getma.org/pdb.php?prot=BMR1A_HUMAN&from=234&to=521&var=Q454R	ENST00000372037		ENSG00000107779	1076		49	0.985		HGNC	p.Q454R		BMPR1A		SNV			1				ENST00000372037	protein_coding	getma.org/?cm=var&var=hg19,10,88683151,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF50,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/R		G	low	1898/11255		getma.org/?cm=msa&ty=f&p=BMR1A_HUMAN&rb=234&re=521&var=Q454R	deleterious(0)				YES	BMPR1A,missense_variant,p.Gln454Arg,ENST00000372037,NM_004329.2;							MODERATE	1361/1599	Q454R	BMR1A_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000361107		CCDS7378.1			1	
USF1	0	LGGM	GRCh37	1	161011184	161011184	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	12	22	.	.	ENST00000368021.3:c.490A>G	p.Met164Val	p.M164V	ENST00000368021	NM_007122.4	164	Atg/Gtg	0	1		UPI0000001C35	0	NA	ENST00000368020		ENSG00000158773	12593		34	2.16		HGNC	p.M164V		USF1		SNV			1				ENST00000368020	protein_coding	getma.org/?cm=var&var=hg19,1,161011184,T,C&fts=all		hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF45		M/V		C	medium	605/1717		getma.org/?cm=msa&ty=f&p=USF1_HUMAN&rb=1&re=199&var=M164V	deleterious(0)	E9PQA2_HUMAN,E9PJ52_HUMAN				USF1,missense_variant,p.Met164Val,ENST00000368021,NM_007122.4;USF1,missense_variant,p.Met105Val,ENST00000435396,NM_207005.2;USF1,missense_variant,p.Met164Val,ENST00000368020,NM_001276373.1;USF1,missense_variant,p.Met136Val,ENST00000368019,;USF1,missense_variant,p.Met103Val,ENST00000531842,;USF1,missense_variant,p.Met105Val,ENST00000534633,;USF1,missense_variant,p.Met31Val,ENST00000528768,;TSTD1,upstream_gene_variant,,ENST00000318289,;TSTD1,upstream_gene_variant,,ENST00000423014,NM_001113207.1,NM_001113205.1;TSTD1,upstream_gene_variant,,ENST00000368023,;TSTD1,upstream_gene_variant,,ENST00000466967,;TSTD1,upstream_gene_variant,,ENST00000368024,NM_001113206.1;USF1,3_prime_UTR_variant,,ENST00000473969,;USF1,non_coding_transcript_exon_variant,,ENST00000496363,;USF1,non_coding_transcript_exon_variant,,ENST00000491629,;RP11-544M22.13,upstream_gene_variant,,ENST00000289779,;USF1,upstream_gene_variant,,ENST00000472217,;TSTD1,upstream_gene_variant,,ENST00000486084,;RP11-544M22.13,upstream_gene_variant,,ENST00000470694,;TSTD1,upstream_gene_variant,,ENST00000462952,;USF1,downstream_gene_variant,,ENST00000529476,;							MODERATE	490/933	M164V	USF1_HUMAN			Transcript		benign(0.267)	.	ENSP00000356999		CCDS1214.1			1	
TRPM6	0	LGGM	GRCh37	9	77427257	77427257	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	29	23	.	.	ENST00000360774.1:c.1401T>C	p.His467=	p.H467=	ENST00000360774	NM_017662.4	467	caT/caC	0	1	1	UPI000006E041	0		ENST00000360774		ENSG00000119121	17995		52			HGNC	p.H467H		TRPM6		SNV			1				ENST00000376872	protein_coding			hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800		H		G		1639/8425							YES	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,synonymous_variant,p.=,ENST00000376872,;TRPM6,synonymous_variant,p.=,ENST00000376871,;							LOW	1401/6069		TRPM6_HUMAN			Transcript			.	ENSP00000354006		CCDS6647.1			1	
KPNB1	0	LGGM	GRCh37	17	45757950	45757950	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	23	23	.	.	ENST00000290158.4:c.2545G>A	p.Glu849Lys	p.E849K	ENST00000290158	NM_002265.5	849	Gaa/Aaa	0	1	1	UPI0000001C21	0	getma.org/pdb.php?prot=IMB1_HUMAN&from=838&to=876&var=E849K	ENST00000290158		ENSG00000108424	6400		46	0.345		HGNC	p.E633K		KPNB1		SNV							ENST00000537679	protein_coding	getma.org/?cm=var&var=hg19,17,45757950,G,A&fts=all		hmmpanther:PTHR10527:SF1,hmmpanther:PTHR10527,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		E/K		A	neutral	2952/6139		getma.org/?cm=msa&ty=f&p=IMB1_HUMAN&rb=838&re=876&var=E849K	tolerated(0.78)	J3QRG4_HUMAN,J3QR48_HUMAN,B7ZAV6_HUMAN			YES	KPNB1,missense_variant,p.Glu849Lys,ENST00000290158,NM_002265.5;KPNB1,missense_variant,p.Glu704Lys,ENST00000535458,;KPNB1,missense_variant,p.Glu704Lys,ENST00000540627,NM_001276453.1;KPNB1,missense_variant,p.Glu633Lys,ENST00000537679,;KPNB1,missense_variant,p.Glu663Lys,ENST00000582097,;RP11-138C9.1,downstream_gene_variant,,ENST00000578482,;KPNB1,downstream_gene_variant,,ENST00000579901,;KPNB1,non_coding_transcript_exon_variant,,ENST00000580158,;KPNB1,upstream_gene_variant,,ENST00000582126,;KPNB1,downstream_gene_variant,,ENST00000580573,;							MODERATE	2545/2631	E849K	IMB1_HUMAN			Transcript		benign(0.003)	.	ENSP00000290158		CCDS11513.1			1	
GPR149	0	LGGM	GRCh37	3	154055818	154055818	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	32	24	.	.	ENST00000389740.2:c.1866T>C	p.Leu622=	p.L622=	ENST00000389740	NM_001038705.1	622	ctT/ctC	0	1	1	UPI00001AEEA9	0		ENST00000389740		ENSG00000174948	23627		56			HGNC	p.L622L		GPR149		SNV							ENST00000389740	protein_coding					L		G		1966/2323				Q2MKA6_HUMAN			YES	GPR149,synonymous_variant,p.=,ENST00000389740,NM_001038705.1;							LOW	1866/2196		GP149_HUMAN			Transcript			.	ENSP00000374390		CCDS43162.1			1	
EPHB1	0	LGGM	GRCh37	3	134968250	134968250	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	46	24	.	.	ENST00000398015.3:c.2763C>T	p.Ser921=	p.S921=	ENST00000398015	NM_004441.4	921	agC/agT	0	1	1	UPI000012A07E	0		ENST00000398015		ENSG00000154928	3392		70			HGNC	p.S482S	rs765393605,COSM127900,COSM127899	EPHB1	6.07E-05	SNV						0,1,1	ENST00000493838	protein_coding			PROSITE_profiles:PS50105,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Gene3D:1.10.150.50,Pfam_domain:PF00536,PIRSF_domain:PIRSF000666,SMART_domains:SM00454,Superfamily_domains:SSF47769		S		T		3133/4672	3.00E-05			C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN			YES	EPHB1,synonymous_variant,p.=,ENST00000398015,NM_004441.4;EPHB1,synonymous_variant,p.=,ENST00000493838,;					0,1,1		LOW	2763/2955		EPHB1_HUMAN			Transcript			.	ENSP00000381097	2.48E-05	CCDS46921.1			1	
RND2	0	LGGM	GRCh37	17	41180185	41180185	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	11	24	.	.	ENST00000587250.2:c.408G>A	p.Gln136=	p.Q136=	ENST00000587250		136	caG/caA	0	1	1	UPI0000133895	0		ENST00000587250		ENSG00000108830	18315		35			HGNC	p.Q136Q		RND2		SNV							ENST00000544533	protein_coding			PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF21,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540		Q		A		515/1339							YES	RND2,synonymous_variant,p.=,ENST00000544533,NM_005440.4;RND2,synonymous_variant,p.=,ENST00000587250,;VAT1,upstream_gene_variant,,ENST00000590924,;VAT1,upstream_gene_variant,,ENST00000587062,;CTD-3199J23.4,upstream_gene_variant,,ENST00000225973,;RND2,downstream_gene_variant,,ENST00000587117,;							LOW	408/684		RND2_HUMAN			Transcript			.	ENSP00000466680		CCDS11452.1			1	
NPAP1	0	LGGM	GRCh37	15	24924232	24924232	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	21	24	.	.	ENST00000329468.2:c.3218C>A	p.Ala1073Asp	p.A1073D	ENST00000329468	NM_018958.2	1073	gCt/gAt	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		45	0.69		HGNC	p.A1073D		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24924232,C,A&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		A/D		A	neutral	3692/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=A1073D	tolerated_low_confidence(0.06)				YES	NPAP1,missense_variant,p.Ala1073Asp,ENST00000329468,NM_018958.2;							MODERATE	3218/3471	A1073D	NPAP1_HUMAN			Transcript		benign(0.178)	.	ENSP00000333735		CCDS10015.1			1	
AMBN	0	LGGM	GRCh37	4	71467317	71467317	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080775	H080775N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	23	25	.	.	ENST00000322937.6:c.477A>G	p.Glu159=	p.E159=	ENST00000322937	NM_016519.5	159	gaA/gaG	0	1	1	UPI000000DCCB	0		ENST00000322937		ENSG00000178522	452		48			HGNC	p.E144E		AMBN		SNV			1				ENST00000449493	protein_coding			Pfam_domain:PF05111,hmmpanther:PTHR14115,hmmpanther:PTHR14115:SF0,SMART_domains:SM00817		E		G		580/2005				Q546D7_HUMAN			YES	AMBN,synonymous_variant,p.=,ENST00000322937,NM_016519.5;AMBN,synonymous_variant,p.=,ENST00000449493,;							LOW	477/1344		AMBN_HUMAN			Transcript			.	ENSP00000313809		CCDS3543.1			1	
DHFR	0	LGGM	GRCh37	5	79945227	79945227	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	52	26	.	.	ENST00000439211.2:c.223G>C	p.Val75Leu	p.V75L	ENST00000439211	NM_000791.3	75	Gtt/Ctt	0	1	1	UPI0000161B19	0	getma.org/pdb.php?prot=DYR_HUMAN&from=4&to=185&var=V75L	ENST00000439211		ENSG00000228716	2861		78	3.84		HGNC	p.V23L		DHFR		SNV			1				ENST00000504396	protein_coding	getma.org/?cm=var&var=hg19,5,79945227,C,G&fts=all		Gene3D:3.40.430.10,Pfam_domain:PF00186,PROSITE_profiles:PS51330,hmmpanther:PTHR11549,hmmpanther:PTHR11549:SF11,Superfamily_domains:SSF53597		V/L		G	high	717/3917		getma.org/?cm=msa&ty=f&p=DYR_HUMAN&rb=4&re=185&var=V75L	deleterious(0)	B4DDD2_HUMAN,B0YJ76_HUMAN			YES	DHFR,missense_variant,p.Val75Leu,ENST00000439211,NM_000791.3;DHFR,missense_variant,p.Val75Leu,ENST00000505337,;DHFR,missense_variant,p.Val75Leu,ENST00000511032,;DHFR,missense_variant,p.Val23Leu,ENST00000504396,;MTRNR2L2,downstream_gene_variant,,ENST00000604882,NM_001190470.1;DHFR,non_coding_transcript_exon_variant,,ENST00000513048,;DHFR,non_coding_transcript_exon_variant,,ENST00000513314,;DHFR,non_coding_transcript_exon_variant,,ENST00000508282,;							MODERATE	223/564	V75L	DYR_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000396308		CCDS47240.1			1	
TAS2R31	0	LGGM	GRCh37	12	11183371	11183371	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	11	27	.	.	ENST00000390675.2:c.564C>G	p.Phe188Leu	p.F188L	ENST00000390675	NM_176885.2	188	ttC/ttG	0	1	1	UPI000000D820	0	NA	ENST00000390675		ENSG00000256436	19113		38	1.645		HGNC	p.F188L		TAS2R31		SNV							ENST00000390675	protein_coding	getma.org/?cm=var&var=hg19,12,11183371,G,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF54,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321		F/L		C	low	636/1021		getma.org/?cm=msa&ty=f&p=T2R31_HUMAN&rb=1&re=298&var=F188L	tolerated(0.08)				YES	TAS2R31,missense_variant,p.Phe188Leu,ENST00000390675,NM_176885.2;AC018630.1,upstream_gene_variant,,ENST00000601123,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000541456,;							MODERATE	564/930	F188L	T2R31_HUMAN			Transcript		possibly_damaging(0.558)	.	ENSP00000375093		CCDS53747.1			1	
SLC2A4	0	LGGM	GRCh37	17	7189163	7189163	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	14	27	.	.	ENST00000317370.8:c.1262C>G	p.Ala421Gly	p.A421G	ENST00000317370	NM_001042.2	421	gCt/gGt	0	1	1	UPI000004F0B3	0	NA	ENST00000317370		ENSG00000181856	11009		41	1.8		HGNC	p.A411G		SLC2A4		SNV			1				ENST00000424875	protein_coding	getma.org/?cm=var&var=hg19,17,7189163,C,G&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF14,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix		A/G		G	low	1530/3426		getma.org/?cm=msa&ty=f&p=GTR4_HUMAN&rb=26&re=483&var=A421G	deleterious(0)				YES	SLC2A4,missense_variant,p.Ala421Gly,ENST00000317370,NM_001042.2;SLC2A4,missense_variant,p.Ala411Gly,ENST00000424875,;SLC2A4,missense_variant,p.Ala421Gly,ENST00000571308,;YBX2,downstream_gene_variant,,ENST00000007699,NM_015982.3;YBX2,downstream_gene_variant,,ENST00000571464,;RP1-4G17.2,upstream_gene_variant,,ENST00000576271,;YBX2,downstream_gene_variant,,ENST00000570627,;SLC2A4,3_prime_UTR_variant,,ENST00000572485,;SLC2A4,3_prime_UTR_variant,,ENST00000570783,;YBX2,downstream_gene_variant,,ENST00000571485,;YBX2,downstream_gene_variant,,ENST00000571834,;YBX2,downstream_gene_variant,,ENST00000570720,;							MODERATE	1262/1530	A421G	GTR4_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000320935		CCDS11097.1			1	
WHSC1L1	0	LGGM	GRCh37	8	38146988	38146988	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	72	31	.	.	ENST00000317025.8:c.3154A>T	p.Lys1052Ter	p.K1052*	ENST00000317025	NM_023034.1	1052	Aaa/Taa	0	1	1	UPI000006F297	0	NA	ENST00000317025		ENSG00000147548	12767		103	0		HGNC	p.K1052X		WHSC1L1		SNV							ENST00000317025	protein_coding	getma.org/?cm=var&var=hg19,8,38146988,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF301,Gene3D:2.30.30.160,Superfamily_domains:SSF63748		K/*		A	NA	3672/10776		NA		E9PQ95_HUMAN,E9PKA2_HUMAN			YES	WHSC1L1,stop_gained,p.Lys1052Ter,ENST00000317025,NM_023034.1;WHSC1L1,stop_gained,p.Lys1003Ter,ENST00000433384,;WHSC1L1,stop_gained,p.Lys1052Ter,ENST00000527502,;WHSC1L1,non_coding_transcript_exon_variant,,ENST00000526050,;							HIGH	3154/4314	K1052*	NSD3_HUMAN			Transcript			.	ENSP00000313983		CCDS43729.1			1	
APOA4	0	LGGM	GRCh37	11	116691935	116691935	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	23	32	.	.	ENST00000357780.3:c.839G>A	p.Gly280Asp	p.G280D	ENST00000357780	NM_000482.3	280	gGc/gAc	0	1	1	UPI00001AE660	0	getma.org/pdb.php?prot=APOA4_HUMAN&from=235&to=393&var=G280D	ENST00000357780		ENSG00000110244	602		55	0.885		HGNC	p.G280D		APOA4		SNV							ENST00000357780	protein_coding	getma.org/?cm=var&var=hg19,11,116691935,C,T&fts=all		Superfamily_domains:0053393,Gene3D:1.20.120.20,Pfam_domain:PF01442,hmmpanther:PTHR18976,hmmpanther:PTHR18976:SF1		G/D		T	low	954/1470		getma.org/?cm=msa&ty=f&p=APOA4_HUMAN&rb=235&re=393&var=G280D	tolerated(0.32)				YES	APOA4,missense_variant,p.Gly280Asp,ENST00000357780,NM_000482.3;							MODERATE	839/1191	G280D	APOA4_HUMAN			Transcript		benign(0.05)	.	ENSP00000350425		CCDS31681.1			1	
PSG2	0	LGGM	GRCh37	19	43585324	43585324	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	166	40	.	.	ENST00000406487.1:c.139G>A	p.Glu47Lys	p.E47K	ENST00000406487	NM_031246.3	47	Gag/Aag	0	1	1	UPI000013CCF5	0	getma.org/pdb.php?prot=PSG2_HUMAN&from=31&to=140&var=E47K	ENST00000406487		ENSG00000242221	9519		206	2.55		HGNC	p.E47K	rs771999948,COSM1525845,COSM1525844	PSG2	6.06E-05	SNV				0.000193		0,1,1	ENST00000406917	protein_coding	getma.org/?cm=var&var=hg19,19,43585324,C,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF109		E/K		T	medium	238/1538	4.50E-05	getma.org/?cm=msa&ty=f&p=PSG2_HUMAN&rb=31&re=140&var=E47K	deleterious(0.04)				YES	PSG2,missense_variant,p.Glu47Lys,ENST00000406487,NM_031246.3;PSG2,intron_variant,,ENST00000593482,;PSG2,downstream_gene_variant,,ENST00000491995,;	0.000116				0,1,1		MODERATE	139/1008	E47K	PSG2_HUMAN			Transcript		benign(0.03)	.	ENSP00000385706	5.77E-05	CCDS12616.1			1	
PTCHD4	0	LGGM	GRCh37	6	47976579	47976579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	98	41	.	.	ENST00000339488.4:c.698C>A	p.Ala233Asp	p.A233D	ENST00000339488	NM_001013732.3	233	gCc/gAc	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		139	1.245		HGNC	p.A233D	COSM329202	PTCHD4		SNV						1	ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,47976579,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460		A/D		T	low	732/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=233&re=392&var=A233D	deleterious(0.03)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Ala233Asp,ENST00000398738,NM_207499.2;PTCHD4,missense_variant,p.Ala216Asp,ENST00000543600,;PTCHD4,missense_variant,p.Ala233Asp,ENST00000339488,NM_001013732.3;					1		MODERATE	698/2541	A233D	PTHD4_HUMAN			Transcript		benign(0.419)	.	ENSP00000341914		CCDS34473.2			1	
OR4S2	0	LGGM	GRCh37	11	55418968	55418968	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	3	41	.	.	ENST00000312422.2:c.589G>T	p.Val197Leu	p.V197L	ENST00000312422	NM_001004059.2	197	Gtg/Ttg	0	1	1	UPI00001D77D2	0	NA	ENST00000312422		ENSG00000174982	15183		44	1.41		HGNC	p.V197L		OR4S2		SNV							ENST00000312422	protein_coding	getma.org/?cm=var&var=hg19,11,55418968,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Superfamily_domains:SSF81321		V/L		T	low	589/936		getma.org/?cm=msa&ty=f&p=OR4S2_HUMAN&rb=137&re=278&var=V197L	tolerated(0.07)				YES	OR4S2,missense_variant,p.Val197Leu,ENST00000312422,NM_001004059.2;							MODERATE	589/936	V197L	OR4S2_HUMAN			Transcript		benign(0.211)	.	ENSP00000310337		CCDS31505.1			1	
GPRASP3	0	LGGM	GRCh37	X	102004735	102004735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	30	45	.	.	ENST00000372735.1:c.812C>A	p.Thr271Asn	p.T271N	ENST00000372735		271	aCt/aAt	0	1		UPI00001C1D50	0	NA	ENST00000361229		ENSG00000198908	29353		75	1.7		HGNC	p.T271N		BHLHB9		SNV							ENST00000457056	protein_coding	getma.org/?cm=var&var=hg19,X,102004735,C,A&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18		T/N		A	low	1340/3974		getma.org/?cm=msa&ty=f&p=BHLH9_HUMAN&rb=87&re=286&var=T271N	tolerated(0.29)					BHLHB9,missense_variant,p.Thr271Asn,ENST00000372735,;BHLHB9,missense_variant,p.Thr271Asn,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,missense_variant,p.Thr271Asn,ENST00000447531,NM_001142529.1;BHLHB9,missense_variant,p.Thr271Asn,ENST00000361229,NM_030639.2;BHLHB9,missense_variant,p.Thr271Asn,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;							MODERATE	812/1644	T271N	BHLH9_HUMAN			Transcript		benign(0.393)	.	ENSP00000354675		CCDS14502.1			1	
NUSAP1	0	LGGM	GRCh37	15	41641363	41641363	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	65	46	.	.	ENST00000559596.1:c.230C>G	p.Ala77Gly	p.A77G	ENST00000559596		77	gCt/gGt	0	1	1	UPI0000072C6B	0	NA	ENST00000559596		ENSG00000137804	18538		111	2.2		HGNC	p.A77G		NUSAP1		SNV							ENST00000260359	protein_coding	getma.org/?cm=var&var=hg19,15,41641363,C,G&fts=all		hmmpanther:PTHR15874,hmmpanther:PTHR15874:SF1		A/G		G	medium	317/1629		getma.org/?cm=msa&ty=f&p=NUSAP_HUMAN&rb=4&re=439&var=A77G	tolerated(0.13)				YES	NUSAP1,missense_variant,p.Ala77Gly,ENST00000260359,NM_018454.7,NM_001243142.1,NM_016359.4,NM_001243143.1;NUSAP1,missense_variant,p.Ala77Gly,ENST00000450318,NM_001243144.1;NUSAP1,missense_variant,p.Ala77Gly,ENST00000414849,;NUSAP1,missense_variant,p.Ala77Gly,ENST00000560747,;NUSAP1,missense_variant,p.Ala77Gly,ENST00000560177,;NUSAP1,missense_variant,p.Ala77Gly,ENST00000559596,;NUSAP1,missense_variant,p.Ala54Gly,ENST00000450592,;RP11-16O9.2,downstream_gene_variant,,ENST00000559959,;NUSAP1,non_coding_transcript_exon_variant,,ENST00000558123,;NUSAP1,non_coding_transcript_exon_variant,,ENST00000558582,;NUSAP1,3_prime_UTR_variant,,ENST00000559046,;NUSAP1,non_coding_transcript_exon_variant,,ENST00000559659,;NUSAP1,intron_variant,,ENST00000557840,;NUSAP1,upstream_gene_variant,,ENST00000560898,;							MODERATE	230/1326	A77G	NUSAP_HUMAN			Transcript		benign(0.073)	.	ENSP00000453403		CCDS45234.1			1	
GRID1	0	LGGM	GRCh37	10	87407116	87407116	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	93	47	.	.	ENST00000327946.7:c.2036A>T	p.Tyr679Phe	p.Y679F	ENST00000327946	NM_017551.2	679	tAt/tTt	0	1	1	UPI00001D8051	0	getma.org/pdb.php?prot=GRID1_HUMAN&from=562&to=842&var=Y679F	ENST00000327946		ENSG00000182771	4575		140	2.235		HGNC	p.Y679F		GRID1		SNV							ENST00000327946	protein_coding	getma.org/?cm=var&var=hg19,10,87407116,T,A&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Pfam_domain:PF00060,Pfam_domain:PF00497,Gene3D:1.10.287.70,SMART_domains:SM00079,Superfamily_domains:SSF53850		Y/F		A	medium	2122/5834		getma.org/?cm=msa&ty=f&p=GRID1_HUMAN&rb=562&re=842&var=Y679F	deleterious(0.01)	B7Z7L0_HUMAN			YES	GRID1,missense_variant,p.Tyr679Phe,ENST00000327946,NM_017551.2;GRID1,missense_variant,p.Tyr250Phe,ENST00000536331,;RN7SKP238,downstream_gene_variant,,ENST00000516483,;RP11-93H12.4,non_coding_transcript_exon_variant,,ENST00000474115,;GRID1,missense_variant,p.Tyr679Phe,ENST00000464741,;							MODERATE	2036/3030	Y679F	GRID1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000330148		CCDS31236.1			1	
MUC12	0	LGGM	GRCh37	7	100643365	100643365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	685	52	.	.	ENST00000536621.1:c.9521C>A	p.Thr3174Lys	p.T3174K	ENST00000536621	NM_001164462.1	3174	aCa/aAa	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		737	0		HGNC	p.T3174K		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100643365,C,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		T/K		A	neutral	9950/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=T3317K						MUC12,missense_variant,p.Thr3317Lys,ENST00000379442,;MUC12,missense_variant,p.Thr3174Lys,ENST00000536621,NM_001164462.1;							MODERATE	9950/16437	T3317K	MUC12_HUMAN			Transcript		benign(0.413)	.	ENSP00000368755					1	
ABCA1	0	LGGM	GRCh37	9	107623961	107623961	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080775	H080775N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	54	58	.	.	ENST00000374736.3:c.542A>T	p.Lys181Met	p.K181M	ENST00000374736	NM_005502.3	181	aAg/aTg	0	1	1	UPI000013E441	0	NA	ENST00000374736		ENSG00000165029	29		112	1.79		HGNC	p.K181M	COSM3952160,COSM3952161	ABCA1		SNV			1			1,1	ENST00000423487	protein_coding	getma.org/?cm=var&var=hg19,9,107623961,T,A&fts=all		hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229		K/M		A	low	937/10494		getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1&re=200&var=K181M	deleterious(0.02)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Lys181Met,ENST00000374736,NM_005502.3;ABCA1,missense_variant,p.Lys181Met,ENST00000423487,;ABCA1,missense_variant,p.Lys121Met,ENST00000374733,;					1,1		MODERATE	542/6786	K181M	ABCA1_HUMAN			Transcript		benign(0.127)	.	ENSP00000363868		CCDS6762.1			1	
ESPL1	0	LGGM	GRCh37	12	53679794	53679794	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	37	61	.	.	ENST00000257934.4:c.3274C>T	p.Pro1092Ser	p.P1092S	ENST00000257934	NM_012291.4	1092	Cca/Tca	0	1	1	UPI00003668C3	0	NA	ENST00000257934		ENSG00000135476	16856		98	2.24		HGNC	p.P1092S	rs368502607	ESPL1		SNV	T:0.0002						ENST00000552462	protein_coding	getma.org/?cm=var&var=hg19,12,53679794,C,T&fts=all		hmmpanther:PTHR12792		P/S	T:0	T	medium	3365/6623	0.000166	getma.org/?cm=msa&ty=f&p=ESPL1_HUMAN&rb=1&re=1299&var=P1092S	tolerated(0.22)	H3BRX7_HUMAN			YES	ESPL1,missense_variant,p.Pro1092Ser,ENST00000257934,NM_012291.4;ESPL1,missense_variant,p.Pro1092Ser,ENST00000552462,;ESPL1,3_prime_UTR_variant,,ENST00000552671,;ESPL1,intron_variant,,ENST00000553016,;ESPL1,intron_variant,,ENST00000535123,;ESPL1,upstream_gene_variant,,ENST00000549154,;ESPL1,upstream_gene_variant,,ENST00000552600,;							MODERATE	3274/6363	P1092S	ESPL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000257934	9.06E-05	CCDS8852.1			1	
ZNF714	0	LGGM	GRCh37	19	21300530	21300530	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080775	H080775N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	40	64	.	.	ENST00000596143.1:c.1060C>G	p.His354Asp	p.H354D	ENST00000596143	NM_182515.3	354	Cac/Gac	0	1	1	UPI000059D6C5	0	getma.org/pdb.php?prot=ZN714_HUMAN&from=355&to=380&var=H355D	ENST00000596143		ENSG00000160352	27124		104	0.685		HGNC	p.H354D		ZNF714		SNV							ENST00000600435	protein_coding	getma.org/?cm=var&var=hg19,19,21300530,C,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF104,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/D		G	neutral	1385/6809		getma.org/?cm=msa&ty=f&p=ZN714_HUMAN&rb=335&re=400&var=H355D	tolerated(0.42)	M0R2G4_HUMAN,M0QYV9_HUMAN			YES	ZNF714,missense_variant,p.His354Asp,ENST00000596143,NM_182515.3;ZNF714,3_prime_UTR_variant,,ENST00000601416,;ZNF714,3_prime_UTR_variant,,ENST00000291770,;ZNF714,intron_variant,,ENST00000596053,;ZNF714,downstream_gene_variant,,ENST00000597086,;ZNF714,downstream_gene_variant,,ENST00000596367,;ZNF714,downstream_gene_variant,,ENST00000597424,;RNA5SP469,upstream_gene_variant,,ENST00000364165,;ZNF714,missense_variant,p.His354Asp,ENST00000600435,;ZNF714,3_prime_UTR_variant,,ENST00000600770,;AC010620.1,upstream_gene_variant,,ENST00000456283,;							MODERATE	1060/1665	H355D	ZN714_HUMAN			Transcript		benign(0.021)	.	ENSP00000472368		CCDS54239.1			1	
CLCN4	0	LGGM	GRCh37	X	10176145	10176145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	9	77	.	.	ENST00000380833.4:c.904G>T	p.Ala302Ser	p.A302S	ENST00000380833	NM_001830.3	302	Gcc/Tcc	0	1	1	UPI0000127A99	0	getma.org/pdb.php?prot=CLCN4_HUMAN&from=162&to=565&var=A302S	ENST00000380833		ENSG00000073464	2022		86	2.36		HGNC	p.A208S		CLCN4		SNV							ENST00000421085	protein_coding	getma.org/?cm=var&var=hg19,X,10176145,G,T&fts=all		hmmpanther:PTHR11689:SF18,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340		A/S		T	medium	1295/6750		getma.org/?cm=msa&ty=f&p=CLCN4_HUMAN&rb=162&re=565&var=A302S	deleterious(0)	Q75N13_HUMAN,B7Z5Z4_HUMAN			YES	CLCN4,missense_variant,p.Ala302Ser,ENST00000380833,NM_001830.3,NM_001256944.1;CLCN4,missense_variant,p.Ala302Ser,ENST00000380829,;CLCN4,missense_variant,p.Ala208Ser,ENST00000421085,;CLCN4,downstream_gene_variant,,ENST00000454850,;							MODERATE	904/2283	A302S	CLCN4_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000370213		CCDS14137.1			1	
LRTM1	0	LGGM	GRCh37	3	54952496	54952496	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080775	H080775N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080775N.bam, H080775T.bam	Illumina HiSeq	116	99	.	.	ENST00000273286.5:c.1028C>T	p.Ser343Leu	p.S343L	ENST00000273286	NM_020678.2	343	tCa/tTa	0	1	1	UPI000006CEEC	0	NA	ENST00000273286		ENSG00000144771	25023		215	2.28		HGNC	p.S343L		LRTM1		SNV							ENST00000273286	protein_coding	getma.org/?cm=var&var=hg19,3,54952496,G,A&fts=all		hmmpanther:PTHR24369:SF18,hmmpanther:PTHR24369		S/L		A	medium	1191/1423		getma.org/?cm=msa&ty=f&p=LRTM1_HUMAN&rb=182&re=345&var=S343L	deleterious(0.03)				YES	LRTM1,missense_variant,p.Ser343Leu,ENST00000273286,NM_020678.2;LRTM1,missense_variant,p.Ser267Leu,ENST00000493075,;CACNA2D3,intron_variant,,ENST00000474759,NM_018398.2;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000471363,;							MODERATE	1028/1038	S343L	LRTM1_HUMAN			Transcript		benign(0.01)	.	ENSP00000273286		CCDS2876.1			1	
REPIN1	0	LGGM	GRCh37	7	150068797	150068797	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	10	2	.	.	ENST00000489432.2:c.638G>C	p.Arg213Pro	p.R213P	ENST00000489432	NM_001099695.1	213	cGa/cCa	0	1		UPI0000071834	0	getma.org/pdb.php?prot=REPI1_HUMAN&from=145&to=168&var=R156P	ENST00000397281		ENSG00000214022	17922		12	2.175		HGNC	p.R215P		REPIN1		SNV							ENST00000475514	protein_coding	getma.org/?cm=var&var=hg19,7,150068797,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24406,hmmpanther:PTHR24406:SF0,PROSITE_patterns:PS00028,Pfam_domain:PF13894,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		R/P		C	medium	956/3292		getma.org/?cm=msa&ty=f&p=REPI1_HUMAN&rb=125&re=188&var=R156P	deleterious(0.01)	E7EVL6_HUMAN				REPIN1,missense_variant,p.Arg156Pro,ENST00000397281,NM_013400.3;REPIN1,missense_variant,p.Arg156Pro,ENST00000444957,NM_001099696.2;REPIN1,missense_variant,p.Arg156Pro,ENST00000425389,NM_014374.3;REPIN1,missense_variant,p.Arg156Pro,ENST00000540729,;REPIN1,missense_variant,p.Arg213Pro,ENST00000489432,NM_001099695.1;REPIN1,missense_variant,p.Arg216Pro,ENST00000488943,;REPIN1,missense_variant,p.Arg215Pro,ENST00000475514,;REPIN1,3_prime_UTR_variant,,ENST00000479668,;REPIN1,3_prime_UTR_variant,,ENST00000482680,;REPIN1,3_prime_UTR_variant,,ENST00000466559,;ZNF775,intron_variant,,ENST00000478789,;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,;							MODERATE	467/1704	R156P	REPI1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000380451		CCDS43677.1			1	
MYO5B	0	LGGM	GRCh37	18	47373653	47373653	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	15	2	.	.	ENST00000285039.7:c.4322A>G	p.Gln1441Arg	p.Q1441R	ENST00000285039	NM_001080467.2	1441	cAg/cGg	0	1	1	UPI00001D7B21	0	NA	ENST00000285039		ENSG00000167306	7603		17	1.845		HGNC	p.Q1441R		MYO5B		SNV			1				ENST00000285039	protein_coding	getma.org/?cm=var&var=hg19,18,47373653,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,Low_complexity_(Seg):seg		Q/R		C	low	4622/9505		getma.org/?cm=msa&ty=f&p=MYO5B_HUMAN&rb=1269&re=1468&var=Q1441R	tolerated(0.08)	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN			YES	MYO5B,missense_variant,p.Gln1441Arg,ENST00000285039,NM_001080467.2;MYO5B,missense_variant,p.Gln556Arg,ENST00000324581,;MYO5B,missense_variant,p.Gln559Arg,ENST00000592779,;MYO5B,missense_variant,p.Gln11Arg,ENST00000592688,;SCARNA17,intron_variant,,ENST00000589499,;							MODERATE	4322/5547	Q1441R	MYO5B_HUMAN			Transcript		possibly_damaging(0.533)	.	ENSP00000285039		CCDS42436.1			1	
EP400NL	0	LGGM	GRCh37	12	132588634	132588634	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	2	2	.	.	ENST00000443539.2:c.69G>T	p.Ala23=	p.A23=	ENST00000443539		23	gcG/gcT	0	1		UPI0000D6228B	0		ENST00000446190		ENSG00000185684	26602		4			HGNC	p.A23A		EP400NL		SNV							ENST00000446190	nonsense_mediated_decay					A		T		305/3697								EP400NL,synonymous_variant,p.=,ENST00000376625,;EP400NL,synonymous_variant,p.=,ENST00000361109,;EP400NL,synonymous_variant,p.=,ENST00000392352,;EP400NL,synonymous_variant,p.=,ENST00000443539,;EP400NL,synonymous_variant,p.=,ENST00000389560,;EP400NL,synonymous_variant,p.=,ENST00000407361,;EP400NL,synonymous_variant,p.=,ENST00000454179,;EP400NL,synonymous_variant,p.=,ENST00000539205,;EP400NL,intron_variant,,ENST00000488030,;EP400NL,synonymous_variant,p.=,ENST00000446190,;EP400NL,synonymous_variant,p.=,ENST00000332441,;							LOW	69/1467		E400N_HUMAN			Transcript			.	ENSP00000396499					1	
GREB1	0	LGGM	GRCh37	2	11706620	11706620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	33	3	.	.	ENST00000381486.2:c.292G>T	p.Gly98Trp	p.G98W	ENST00000381486	NM_014668.3	98	Ggg/Tgg	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		36	2.25		HGNC	p.G98W		GREB1		SNV							ENST00000263834	protein_coding	getma.org/?cm=var&var=hg19,2,11706620,G,T&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		G/W		T	medium	554/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=G98W	deleterious(0)					GREB1,missense_variant,p.Gly98Trp,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Gly98Trp,ENST00000234142,;GREB1,missense_variant,p.Gly98Trp,ENST00000263834,NM_148903.2;GREB1,missense_variant,p.Gly98Trp,ENST00000381483,NM_033090.2;GREB1,5_prime_UTR_variant,,ENST00000389825,;RNA5SP85,upstream_gene_variant,,ENST00000365378,;GREB1,downstream_gene_variant,,ENST00000470980,;							MODERATE	292/5850	G98W	GREB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000234142		CCDS42655.1			1	
PCIF1	0	LGGM	GRCh37	20	44576162	44576162	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	21	3	.	.	ENST00000372409.3:c.1884-1G>T		p.X628_splice	ENST00000372409	NM_022104.3			0	1	1	UPI000000D717	0		ENST00000372409		ENSG00000100982	16200		24			HGNC	-		PCIF1		SNV							ENST00000372409	protein_coding							T		-/2747							YES	PCIF1,splice_acceptor_variant,,ENST00000372409,NM_022104.3;ZNF335,downstream_gene_variant,,ENST00000322927,NM_022095.3;ZNF335,downstream_gene_variant,,ENST00000426788,;PCIF1,non_coding_transcript_exon_variant,,ENST00000479348,;							HIGH	1884/2115		PCIF1_HUMAN			Transcript			.	ENSP00000361486		CCDS13388.1			1	
PLTP	0	LGGM	GRCh37	20	44534957	44534957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	23	3	.	.	ENST00000477313.1:c.655C>A	p.Leu219Ile	p.L219I	ENST00000477313		219	Ctc/Atc	0	1		UPI0000131C7C	0	getma.org/pdb.php?prot=PLTP_HUMAN&from=201&to=227&var=L219I	ENST00000372431		ENSG00000100979	9093		26	2.32		HGNC	p.L131I		PLTP		SNV							ENST00000372420	protein_coding	getma.org/?cm=var&var=hg19,20,44534957,G,T&fts=all		Superfamily_domains:SSF55394,SMART_domains:SM00328,Gene3D:1ewfA02,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF16		L/I		T	medium	735/1743		getma.org/?cm=msa&ty=f&p=PLTP_HUMAN&rb=171&re=257&var=L219I	deleterious(0)					PLTP,missense_variant,p.Leu219Ile,ENST00000477313,;PLTP,missense_variant,p.Leu239Ile,ENST00000542937,;PLTP,missense_variant,p.Leu219Ile,ENST00000372431,NM_006227.3;PLTP,missense_variant,p.Leu167Ile,ENST00000354050,NM_182676.2;PLTP,missense_variant,p.Leu131Ile,ENST00000372420,NM_001242921.1;PLTP,missense_variant,p.Leu124Ile,ENST00000420868,NM_001242920.1;							MODERATE	655/1482	L219I	PLTP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000361508		CCDS13386.1			1	
FOXK2	0	LGGM	GRCh37	17	80545126	80545126	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	3	.	.	ENST00000335255.5:c.1764G>T	p.Ala588=	p.A588=	ENST00000335255	NM_004514.3	588	gcG/gcT	0	1	1	UPI00001A8BEE	0		ENST00000335255		ENSG00000141568	6036		41			HGNC	p.A588A		FOXK2		SNV							ENST00000335255	protein_coding			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF106		A		T		1938/5265				E9PM37_HUMAN			YES	FOXK2,synonymous_variant,p.=,ENST00000335255,NM_004514.3;FOXK2,synonymous_variant,p.=,ENST00000575578,;FOXK2,downstream_gene_variant,,ENST00000531030,;FOXK2,downstream_gene_variant,,ENST00000526383,;snoU13,downstream_gene_variant,,ENST00000459591,;RP13-638C3.3,downstream_gene_variant,,ENST00000575085,;FOXK2,downstream_gene_variant,,ENST00000571160,;FOXK2,synonymous_variant,p.=,ENST00000473637,;							LOW	1764/1983		FOXK2_HUMAN			Transcript			.	ENSP00000335677		CCDS11813.1			1	
EML2	0	LGGM	GRCh37	19	46122320	46122320	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	13	3	.	.	ENST00000587152.1:c.1855G>T	p.Glu619Ter	p.E619*	ENST00000587152	NM_001193268.1	619	Gag/Tag	0	1		UPI0000129EA3	0	NA	ENST00000245925		ENSG00000125746	18035		16	0		HGNC	p.E418X		EML2		SNV							ENST00000588308	protein_coding	getma.org/?cm=var&var=hg19,19,46122320,C,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF22,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998		E/*		A	NA	1303/2264		NA		K7ERY9_HUMAN,K7ERR2_HUMAN,K7EQR0_HUMAN,K7EKU5_HUMAN,K7EIM1_HUMAN				EML2,stop_gained,p.Glu565Ter,ENST00000536630,NM_001193269.1;EML2,stop_gained,p.Glu619Ter,ENST00000587152,NM_001193268.1;EML2,stop_gained,p.Glu418Ter,ENST00000589876,;EML2,stop_gained,p.Glu418Ter,ENST00000245925,NM_012155.2;EML2,stop_gained,p.Glu114Ter,ENST00000588272,;EML2,stop_gained,p.Glu11Ter,ENST00000587484,;EML2,intron_variant,,ENST00000590575,;EML2,downstream_gene_variant,,ENST00000588496,;EML2,downstream_gene_variant,,ENST00000586902,;EML2,downstream_gene_variant,,ENST00000590580,;EML2,stop_gained,p.Glu576Ter,ENST00000399594,;EML2,stop_gained,p.Glu418Ter,ENST00000588308,;EML2,splice_region_variant,,ENST00000586195,;EML2,splice_region_variant,,ENST00000592482,;EML2,splice_region_variant,,ENST00000590819,;EML2,downstream_gene_variant,,ENST00000588000,;EML2,downstream_gene_variant,,ENST00000588610,;EML2,upstream_gene_variant,,ENST00000592433,;EML2,upstream_gene_variant,,ENST00000586405,;							HIGH	1252/1950	E418*	EMAL2_HUMAN			Transcript			.	ENSP00000245925		CCDS12670.1			1	
NELFCD	0	LGGM	GRCh37	20	57564928	57564928	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	30	3	.	.	ENST00000602795.1:c.727G>T	p.Gly243Trp	p.G243W	ENST00000602795	NM_198976.2	243	Ggg/Tgg	0	1	1	UPI0000D4E339	0	NA	ENST00000602795		ENSG00000101158	15934		33	2.52		HGNC	p.G234W		NELFCD		SNV							ENST00000344018	protein_coding	getma.org/?cm=var&var=hg19,20,57564928,G,T&fts=all		hmmpanther:PTHR12144,hmmpanther:PTHR12144:SF0,Pfam_domain:PF04858		G/W		T	medium	775/2305		getma.org/?cm=msa&ty=f&p=NELFD_HUMAN&rb=10&re=589&var=G234W	deleterious(0)	H0UI80_HUMAN			YES	NELFCD,missense_variant,p.Gly243Trp,ENST00000602795,NM_198976.2;NELFCD,missense_variant,p.Gly234Trp,ENST00000344018,;NELFCD,upstream_gene_variant,,ENST00000479207,;NELFCD,upstream_gene_variant,,ENST00000497935,;NELFCD,missense_variant,p.Gly237Trp,ENST00000460601,;NELFCD,non_coding_transcript_exon_variant,,ENST00000477741,;NELFCD,non_coding_transcript_exon_variant,,ENST00000474543,;NELFCD,non_coding_transcript_exon_variant,,ENST00000482747,;NELFCD,upstream_gene_variant,,ENST00000478389,;NELFCD,downstream_gene_variant,,ENST00000471621,;NELFCD,downstream_gene_variant,,ENST00000464363,;NELFCD,upstream_gene_variant,,ENST00000486263,;NELFCD,upstream_gene_variant,,ENST00000490205,;NELFCD,downstream_gene_variant,,ENST00000492016,;							MODERATE	727/1800	G234W				Transcript		probably_damaging(0.999)	.	ENSP00000473290		CCDS13473.2			1	
NOXA1	0	LGGM	GRCh37	9	140325764	140325764	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	17	3	.	.	ENST00000341349.2:c.775C>A	p.Arg259Ser	p.R259S	ENST00000341349	NM_001256067.1	259	Cgc/Agc	0	1	1	UPI0000074717	0	NA	ENST00000341349		ENSG00000188747	10668		20	-0.14		HGNC	p.R203S		NOXA1		SNV							ENST00000392815	protein_coding	getma.org/?cm=var&var=hg19,9,140325764,C,A&fts=all		hmmpanther:PTHR15175,hmmpanther:PTHR15175:SF2		R/S		A	neutral	955/1678		getma.org/?cm=msa&ty=f&p=NOXA1_HUMAN&rb=69&re=268&var=R259S	tolerated(0.8)				YES	NOXA1,missense_variant,p.Arg259Ser,ENST00000341349,NM_001256067.1,NM_006647.1;NOXA1,missense_variant,p.Arg203Ser,ENST00000392815,NM_001256068.1;ENTPD8,downstream_gene_variant,,ENST00000371506,NM_001033113.1;ENTPD8,downstream_gene_variant,,ENST00000344119,NM_198585.2;ENTPD8,downstream_gene_variant,,ENST00000472938,;ENTPD8,downstream_gene_variant,,ENST00000461823,;							MODERATE	775/1452	R259S	NOXA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000342848		CCDS7042.1			1	
CMKLR1	0	LGGM	GRCh37	12	108686101	108686101	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	25	3	.	.	ENST00000312143.7:c.639G>T	p.Gly213=	p.G213=	ENST00000312143	NM_001142344.1	213	ggG/ggT	0	1	1	UPI0000127BD4	0		ENST00000312143		ENSG00000174600	2121		28			HGNC	p.G211G		CMKLR1		SNV							ENST00000397688	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01126,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF2,Superfamily_domains:SSF81321		G		A		1003/5283				F8VYN7_HUMAN,F8VSC8_HUMAN			YES	CMKLR1,synonymous_variant,p.=,ENST00000397688,NM_004072.2;CMKLR1,synonymous_variant,p.=,ENST00000312143,NM_001142344.1,NM_004072.2;CMKLR1,synonymous_variant,p.=,ENST00000412676,NM_001142345.1,NM_001142343.1,NM_004072.2;CMKLR1,synonymous_variant,p.=,ENST00000550402,;CMKLR1,synonymous_variant,p.=,ENST00000552995,;CMKLR1,downstream_gene_variant,,ENST00000550573,;CMKLR1,downstream_gene_variant,,ENST00000549466,;							LOW	639/1122		CML1_HUMAN			Transcript			.	ENSP00000311733		CCDS44965.1			1	
MYO15A	0	LGGM	GRCh37	17	18063255	18063255	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	19	3	.	.	ENST00000205890.5:c.9310G>T	p.Gly3104Trp	p.G3104W	ENST00000205890	NM_016239.3	3104	Ggg/Tgg	0	1	1	UPI0000E59E6E	0	NA	ENST00000205890		ENSG00000091536	7594		22	1.245		HGNC	p.G58W		MYO15A		SNV			1				ENST00000578472	protein_coding	getma.org/?cm=var&var=hg19,17,18063255,G,T&fts=all		Pfam_domain:PF00784,PROSITE_profiles:PS51016,SMART_domains:SM00139		G/W		T	low	9648/11863		getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=3090&re=3204&var=G3104W		K7EQV1_HUMAN,G3V4G3_HUMAN			YES	MYO15A,missense_variant,p.Gly3104Trp,ENST00000205890,NM_016239.3;MYO15A,missense_variant,p.Gly368Trp,ENST00000418233,;MYO15A,missense_variant,p.Gly9Trp,ENST00000579848,;MYO15A,missense_variant,p.Gly58Trp,ENST00000556535,;MYO15A,missense_variant,p.Gly58Trp,ENST00000578472,;MYO15A,5_prime_UTR_variant,,ENST00000451725,;MYO15A,downstream_gene_variant,,ENST00000585180,;MYO15A,non_coding_transcript_exon_variant,,ENST00000557190,;MYO15A,missense_variant,p.Arg33Leu,ENST00000557655,;MYO15A,non_coding_transcript_exon_variant,,ENST00000433411,;MYO15A,intron_variant,,ENST00000445289,;MYO15A,upstream_gene_variant,,ENST00000473013,;MYO15A,upstream_gene_variant,,ENST00000578575,;MYO15A,downstream_gene_variant,,ENST00000536811,;							MODERATE	9310/10593	G3104W	MYO15_HUMAN			Transcript		unknown(0)	.	ENSP00000205890		CCDS42271.1			1	
PANK4	0	LGGM	GRCh37	1	2450638	2450638	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	29	3	.	.	ENST00000378466.3:c.979C>A	p.Arg327=	p.R327=	ENST00000378466	NM_018216.1	327	Cgg/Agg	0	1	1	UPI000000DA54	0		ENST00000378466		ENSG00000157881	19366		32			HGNC	p.R33R		PANK4		SNV							ENST00000468002	protein_coding			hmmpanther:PTHR12280,Pfam_domain:PF03630,TIGRFAM_domain:TIGR00555,PIRSF_domain:PIRSF036939,Superfamily_domains:SSF53067		R		T		992/2649							YES	PANK4,synonymous_variant,p.=,ENST00000378466,NM_018216.1;PANK4,synonymous_variant,p.=,ENST00000435556,;PANK4,downstream_gene_variant,,ENST00000491212,;PANK4,synonymous_variant,p.=,ENST00000505228,;PANK4,synonymous_variant,p.=,ENST00000468002,;PANK4,downstream_gene_variant,,ENST00000502770,;PANK4,downstream_gene_variant,,ENST00000486396,;PANK4,upstream_gene_variant,,ENST00000502512,;PANK4,downstream_gene_variant,,ENST00000514922,;PANK4,upstream_gene_variant,,ENST00000515423,;							LOW	979/2322		PANK4_HUMAN			Transcript			.	ENSP00000367727		CCDS42.1			1	
MAPK13	0	LGGM	GRCh37	6	36106153	36106153	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	18	3	.	.	ENST00000211287.4:c.694C>A	p.Leu232Met	p.L232M	ENST00000211287	NM_002754.4	232	Ctg/Atg	0	1	1	UPI000012F182	0	getma.org/pdb.php?prot=MK13_HUMAN&from=25&to=308&var=L232M	ENST00000211287		ENSG00000156711	6875		21	1.57		HGNC	p.L232M		MAPK13		SNV							ENST00000211287	protein_coding	getma.org/?cm=var&var=hg19,6,36106153,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF107,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/M		A	low	956/2052		getma.org/?cm=msa&ty=f&p=MK13_HUMAN&rb=25&re=308&var=L232M	deleterious(0)				YES	MAPK13,missense_variant,p.Leu232Met,ENST00000211287,NM_002754.4;MAPK13,missense_variant,p.Leu222Met,ENST00000373761,;MAPK13,intron_variant,,ENST00000373766,;MAPK13,intron_variant,,ENST00000373759,;Z95152.1,downstream_gene_variant,,ENST00000408816,;MAPK13,downstream_gene_variant,,ENST00000490334,;MAPK13,downstream_gene_variant,,ENST00000476951,;							MODERATE	694/1098	L232M	MK13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000211287		CCDS4818.1			1	
JUP	0	LGGM	GRCh37	17	39928004	39928004	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	15	3	.	.	ENST00000393931.3:c.103C>A	p.Pro35Thr	p.P35T	ENST00000393931	NM_002230.2	35	Ccc/Acc	0	1		UPI0000073ED4	0	NA	ENST00000310706		ENSG00000173801	6207		18	1.85		HGNC	p.P35T	rs782787073	JUP		SNV			1				ENST00000540235	protein_coding	getma.org/?cm=var&var=hg19,17,39928004,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF12		P/T		T	low	222/3200	1.51E-05	getma.org/?cm=msa&ty=f&p=PLAK_HUMAN&rb=1&re=200&var=P35T	deleterious(0.03)	Q7KZ86_HUMAN,K7ERP3_HUMAN,C9JTX4_HUMAN,C9JPI2_HUMAN,C9JKY1_HUMAN,C9JK18_HUMAN,C9J826_HUMAN				JUP,missense_variant,p.Pro35Thr,ENST00000393931,NM_002230.2;JUP,missense_variant,p.Pro35Thr,ENST00000393930,;JUP,missense_variant,p.Pro35Thr,ENST00000310706,NM_021991.2;JUP,missense_variant,p.Pro35Thr,ENST00000540235,;JUP,missense_variant,p.Pro35Thr,ENST00000449889,;JUP,missense_variant,p.Pro35Thr,ENST00000437187,;JUP,missense_variant,p.Pro35Thr,ENST00000424457,;JUP,missense_variant,p.Pro35Thr,ENST00000420370,;JUP,missense_variant,p.Pro35Thr,ENST00000437369,;JUP,missense_variant,p.Pro35Thr,ENST00000591690,;JUP,downstream_gene_variant,,ENST00000465293,;JUP,non_coding_transcript_exon_variant,,ENST00000589036,;							MODERATE	103/2238	P35T	PLAK_HUMAN			Transcript		benign(0.024)	.	ENSP00000311113	8.24E-06	CCDS11407.1			1	
SLC9A1	0	LGGM	GRCh37	1	27436047	27436047	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	36	3	.	.	ENST00000263980.3:c.1035C>A	p.Ala345=	p.A345=	ENST00000263980	NM_003047.4	345	gcC/gcA	0	1	1	UPI000012FD1B	0		ENST00000263980		ENSG00000090020	11071		39			HGNC	p.A345A		SLC9A1		SNV							ENST00000374086	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF59,TIGRFAM_domain:TIGR00840,Pfam_domain:PF00999		A		T		1611/4516				B4DTZ6_HUMAN,B1ALD5_HUMAN			YES	SLC9A1,synonymous_variant,p.=,ENST00000263980,NM_003047.4;SLC9A1,synonymous_variant,p.=,ENST00000545949,;SLC9A1,synonymous_variant,p.=,ENST00000374086,;SLC9A1,downstream_gene_variant,,ENST00000374084,;							LOW	1035/2448		SL9A1_HUMAN			Transcript			.	ENSP00000263980		CCDS295.1			1	
EP400	0	LGGM	GRCh37	12	132514284	132514284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	23	3	.	.	ENST00000389561.2:c.5420C>A	p.Pro1807Gln	p.P1807Q	ENST00000389561	NM_015409.4	1807	cCg/cAg	0	1	1	UPI00004566BC	0	NA	ENST00000389561		ENSG00000183495	11958		26	2.475		HGNC	p.P1807Q		EP400		SNV							ENST00000389561	protein_coding	getma.org/?cm=var&var=hg19,12,132514284,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		P/Q		A	medium	5529/12268		getma.org/?cm=msa&ty=f&p=EP400_HUMAN&rb=1730&re=1929&var=P1843Q					YES	EP400,missense_variant,p.Pro1843Gln,ENST00000333577,;EP400,missense_variant,p.Pro1807Gln,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Pro1806Gln,ENST00000389562,;EP400,missense_variant,p.Pro1770Gln,ENST00000332482,;EP400,missense_variant,p.Pro1726Gln,ENST00000330386,;SNORA49,upstream_gene_variant,,ENST00000386157,NR_002979.2;							MODERATE	5420/9372	P1843Q	EP400_HUMAN			Transcript		unknown(0)	.	ENSP00000374212		CCDS31929.2			1	
GTPBP8	0	LGGM	GRCh37	3	112710071	112710071	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	34	3	.	.	ENST00000383678.2:c.225G>T	p.Pro75=	p.P75=	ENST00000383678	NM_014170.2	75	ccG/ccT	0	1	1	UPI00000732BA	0		ENST00000383678		ENSG00000163607	25007		37			HGNC	p.P75P	COSM3673804	GTPBP8		SNV						1	ENST00000383678	protein_coding			hmmpanther:PTHR11649		P		T		307/1360				C9J0K3_HUMAN			YES	GTPBP8,synonymous_variant,p.=,ENST00000383677,NM_138485.1;GTPBP8,synonymous_variant,p.=,ENST00000383678,NM_014170.2;GTPBP8,upstream_gene_variant,,ENST00000473129,;GTPBP8,upstream_gene_variant,,ENST00000467752,;RP11-484K9.4,upstream_gene_variant,,ENST00000609673,;GTPBP8,synonymous_variant,p.=,ENST00000485330,;GTPBP8,synonymous_variant,p.=,ENST00000488781,;GTPBP8,synonymous_variant,p.=,ENST00000295864,;					1		LOW	225/855		GTPB8_HUMAN			Transcript			.	ENSP00000373176		CCDS33820.1			1	
TATDN2	0	LGGM	GRCh37	3	10312278	10312278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	35	3	.	.	ENST00000287652.4:c.1412C>A	p.Pro471Gln	p.P471Q	ENST00000287652	NM_014760.3	471	cCg/cAg	0	1	1	UPI000013DEC1	0	NA	ENST00000287652		ENSG00000157014	28988		38	1.04		HGNC	p.P471Q		TATDN2		SNV							ENST00000287652	protein_coding	getma.org/?cm=var&var=hg19,3,10312278,C,A&fts=all		hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF19		P/Q		A	low	2463/5342		getma.org/?cm=msa&ty=f&p=TATD2_HUMAN&rb=308&re=495&var=P471Q	tolerated(0.26)	H7BZJ2_HUMAN			YES	TATDN2,missense_variant,p.Pro471Gln,ENST00000287652,NM_014760.3;TATDN2,missense_variant,p.Pro471Gln,ENST00000448281,;TATDN2,upstream_gene_variant,,ENST00000426850,;RP11-438J1.1,missense_variant,p.Pro414Gln,ENST00000437082,;RP11-438J1.1,3_prime_UTR_variant,,ENST00000450534,;							MODERATE	1412/2286	P471Q	TATD2_HUMAN			Transcript		benign(0.045)	.	ENSP00000287652		CCDS33698.1			1	
ASIC5	0	LGGM	GRCh37	4	156784777	156784777	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	36	3	.	.	ENST00000537611.2:c.170G>T	p.Arg57Leu	p.R57L	ENST00000537611	NM_017419.2	57	cGg/cTg	0	1	1	UPI00000433EB	0	NA	ENST00000537611		ENSG00000256394	17537		39	1.885		HGNC	p.R57L		ASIC5		SNV							ENST00000537611	protein_coding	getma.org/?cm=var&var=hg19,4,156784777,C,A&fts=all		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF126,Pfam_domain:PF00858		R/L		A	low	217/1692		getma.org/?cm=msa&ty=f&p=ASIC5_HUMAN&rb=1&re=200&var=R57L	tolerated(0.07)				YES	ASIC5,missense_variant,p.Arg57Leu,ENST00000537611,NM_017419.2;TDO2,intron_variant,,ENST00000506072,;TDO2,intron_variant,,ENST00000507590,;TDO2,intron_variant,,ENST00000506181,;TDO2,intron_variant,,ENST00000503634,;							MODERATE	170/1518	R57L	ASIC5_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000442477		CCDS3793.1			1	
LMF2	0	LGGM	GRCh37	22	50942785	50942785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	5	3	.	.	ENST00000474879.2:c.1702C>A	p.Gln568Lys	p.Q568K	ENST00000474879	NM_033200.2	568	Cag/Aag	0	1	1	UPI0000071DF9	0	NA	ENST00000474879		ENSG00000100258	25096		8	0.42		HGNC	p.Q543K		LMF2		SNV							ENST00000216080	protein_coding	getma.org/?cm=var&var=hg19,22,50942785,G,T&fts=all		hmmpanther:PTHR14463,hmmpanther:PTHR14463:SF5,Pfam_domain:PF06762		Q/K		T	neutral	1718/2582		getma.org/?cm=msa&ty=f&p=LMF2_HUMAN&rb=122&re=592&var=Q568K	tolerated(0.21)				YES	LMF2,missense_variant,p.Gln543Lys,ENST00000216080,;LMF2,missense_variant,p.Gln568Lys,ENST00000474879,NM_033200.2;LMF2,missense_variant,p.Gln455Lys,ENST00000380796,;NCAPH2,upstream_gene_variant,,ENST00000395701,;NCAPH2,upstream_gene_variant,,ENST00000420993,NM_001185011.1,NM_152299.3;NCAPH2,upstream_gene_variant,,ENST00000299821,;NCAPH2,upstream_gene_variant,,ENST00000395698,NM_014551.4;NCAPH2,upstream_gene_variant,,ENST00000523045,;LMF2,downstream_gene_variant,,ENST00000505981,;LMF2,non_coding_transcript_exon_variant,,ENST00000504717,;LMF2,downstream_gene_variant,,ENST00000514938,;NCAPH2,upstream_gene_variant,,ENST00000518394,;NCAPH2,upstream_gene_variant,,ENST00000418794,;LMF2,downstream_gene_variant,,ENST00000507607,;							MODERATE	1702/2124	Q568K	LMF2_HUMAN			Transcript		benign(0.008)	.	ENSP00000424381		CCDS14093.2			1	
DNMT3L	0	LGGM	GRCh37	21	45679360	45679360	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	43	3	.	.	ENST00000270172.3:c.304G>T	p.Gly102Ter	p.G102*	ENST00000270172	NM_013369.3	102	Gga/Tga	0	1	1	UPI00001294C2	0	NA	ENST00000270172		ENSG00000142182	2980		46	0		HGNC	p.G102X		DNMT3L		SNV							ENST00000270172	protein_coding	getma.org/?cm=var&var=hg19,21,45679360,C,A&fts=all		Superfamily_domains:SSF57903,Gene3D:3.30.40.10,hmmpanther:PTHR23068:SF5,hmmpanther:PTHR23068,PROSITE_profiles:PS51533		G/*		A	NA	788/1706		NA					YES	DNMT3L,stop_gained,p.Gly102Ter,ENST00000270172,NM_013369.3;DNMT3L,stop_gained,p.Gly102Ter,ENST00000418993,NM_175867.2;DNMT3L,stop_gained,p.Gly87Ter,ENST00000431166,;							HIGH	304/1164	G102*	DNM3L_HUMAN			Transcript			.	ENSP00000270172		CCDS13705.1			1	
DKKL1	0	LGGM	GRCh37	19	49878142	49878142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	13	3	.	.	ENST00000221498.2:c.586C>A	p.Arg196Ser	p.R196S	ENST00000221498	NM_014419.3	196	Cgc/Agc	0	1	1	UPI00000012EC	0	NA	ENST00000221498		ENSG00000104901	16528		16	1.79		HGNC	p.R121S		DKKL1		SNV							ENST00000596402	protein_coding	getma.org/?cm=var&var=hg19,19,49878142,C,A&fts=all				R/S		A	low	991/1222		getma.org/?cm=msa&ty=f&p=DKKL1_HUMAN&rb=1&re=200&var=R196S	deleterious_low_confidence(0)	M0R2X7_HUMAN,M0QZP1_HUMAN,M0QYJ2_HUMAN			YES	DKKL1,missense_variant,p.Arg196Ser,ENST00000221498,NM_014419.3;DKKL1,missense_variant,p.Arg121Ser,ENST00000596402,NM_001197302.1;DKKL1,missense_variant,p.Arg121Ser,ENST00000597873,;DKKL1,missense_variant,p.Arg165Ser,ENST00000597546,NM_001197301.1;DKKL1,missense_variant,p.Arg54Ser,ENST00000594268,;DKKL1,missense_variant,p.Arg91Ser,ENST00000598682,;AC010524.2,intron_variant,,ENST00000599433,;							MODERATE	586/729	R196S	DKKL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000221498		CCDS12762.1			1	
RET	0	LGGM	GRCh37	10	43604494	43604494	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	29	3	.	.	ENST00000355710.3:c.1079G>T	p.Arg360Leu	p.R360L	ENST00000355710	NM_020975.4	360	cGg/cTg	0	1	1	UPI00001336E1	0	NA	ENST00000355710		ENSG00000165731	9967		32	1.78		HGNC	p.R360L		RET		SNV			1				ENST00000355710	protein_coding	getma.org/?cm=var&var=hg19,10,43604494,G,T&fts=all		PIRSF_domain:PIRSF000631,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416		R/L		T	low	1311/5659		getma.org/?cm=msa&ty=f&p=RET_HUMAN&rb=263&re=462&var=R360L	deleterious(0.01)	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN			YES	RET,missense_variant,p.Arg360Leu,ENST00000355710,NM_020975.4;RET,missense_variant,p.Arg360Leu,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000498820,;RET,downstream_gene_variant,,ENST00000479913,;							MODERATE	1079/3345	R360L	RET_HUMAN			Transcript		benign(0.103)	.	ENSP00000347942		CCDS7200.1			1	
RAB8A	0	LGGM	GRCh37	19	16238844	16238844	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	7	3	.	.	ENST00000300935.3:c.423C>A	p.Leu141=	p.L141=	ENST00000300935	NM_005370.4	141	ctC/ctA	0	1	1	UPI0000001261	0		ENST00000300935		ENSG00000167461	7007		10			HGNC	p.L141L		RAB8A		SNV							ENST00000586682	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00176,SMART_domains:SM00174,SMART_domains:SM00177,SMART_domains:SM00175,TIGRFAM_domain:TIGR00231,Pfam_domain:PF00071,Gene3D:3.40.50.300,hmmpanther:PTHR24073:SF24,hmmpanther:PTHR24073,PROSITE_profiles:PS51419		L		A		696/2827							YES	RAB8A,synonymous_variant,p.=,ENST00000300935,NM_005370.4;RAB8A,synonymous_variant,p.=,ENST00000586682,;CTD-2231E14.8,intron_variant,,ENST00000597983,;CTD-2231E14.8,downstream_gene_variant,,ENST00000599676,;RAB8A,non_coding_transcript_exon_variant,,ENST00000592971,;RAB8A,downstream_gene_variant,,ENST00000589697,;RAB8A,downstream_gene_variant,,ENST00000587156,;							LOW	423/624		RAB8A_HUMAN			Transcript			.	ENSP00000300935		CCDS12339.1			1	
RPL31	0	LGGM	GRCh37	2	101620643	101620643	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	36	3	.	.	ENST00000409028.4:c.131G>T	p.Arg44Leu	p.R44L	ENST00000409028	NM_001098577.2	44	cGg/cTg	0	1		UPI00000227C3	0	getma.org/pdb.php?prot=RL31_HUMAN&from=18&to=101&var=R44L	ENST00000264258		ENSG00000071082	10334		39	3.855		HGNC	p.R44L		RPL31		SNV							ENST00000419276	protein_coding	getma.org/?cm=var&var=hg19,2,101620643,G,T&fts=all		Superfamily_domains:0037549,Gene3D:1vq8X00,Pfam_domain:PF01198,hmmpanther:PTHR10956		R/L		T	high	732/1865		getma.org/?cm=msa&ty=f&p=RL31_HUMAN&rb=18&re=101&var=R44L	deleterious(0.04)	Q76N53_HUMAN,C9JU56_HUMAN				RPL31,missense_variant,p.Arg44Leu,ENST00000409711,;RPL31,missense_variant,p.Arg44Leu,ENST00000264258,NM_000993.4;RPL31,missense_variant,p.Arg44Leu,ENST00000409028,NM_001098577.2;RPL31,missense_variant,p.Arg44Leu,ENST00000409733,;RPL31,missense_variant,p.Arg44Leu,ENST00000409038,;RPL31,missense_variant,p.Arg44Leu,ENST00000409650,;RPL31,missense_variant,p.Arg32Leu,ENST00000441435,;RPL31,missense_variant,p.Arg44Leu,ENST00000409320,NM_001099693.1;RPL31,missense_variant,p.Arg44Leu,ENST00000409000,;RPL31,missense_variant,p.Arg44Leu,ENST00000456292,;TBC1D8,downstream_gene_variant,,ENST00000409318,NM_001102426.1;TBC1D8,downstream_gene_variant,,ENST00000376840,;AC016738.4,upstream_gene_variant,,ENST00000452364,;RPL31,missense_variant,p.Arg44Leu,ENST00000419276,;							MODERATE	131/378	R44L	RL31_HUMAN			Transcript		benign(0.043)	.	ENSP00000264258		CCDS2049.1			1	
GAS6	0	LGGM	GRCh37	13	114541138	114541138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	40	3	.	.	ENST00000327773.6:c.493G>T	p.Gly165Trp	p.G165W	ENST00000327773	NM_000820.2	165	Ggg/Tgg	0	1	1	UPI0000073CCA	0	getma.org/pdb.php?prot=GAS6_HUMAN&from=156&to=196&var=G165W	ENST00000327773		ENSG00000183087	4168		43	4.42		HGNC	p.G165W		GAS6		SNV							ENST00000357389	protein_coding	getma.org/?cm=var&var=hg19,13,114541138,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24035:SF21,hmmpanther:PTHR24035,PROSITE_patterns:PS01187,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		G/W		A	high	640/2490		getma.org/?cm=msa&ty=f&p=GAS6_HUMAN&rb=156&re=196&var=G165W	deleterious(0)	B4DZY7_HUMAN			YES	GAS6,missense_variant,p.Gly165Trp,ENST00000357389,;GAS6,missense_variant,p.Gly165Trp,ENST00000327773,NM_000820.2;GAS6,missense_variant,p.Gly111Trp,ENST00000355761,;GAS6,upstream_gene_variant,,ENST00000418959,NM_001143946.1;GAS6,upstream_gene_variant,,ENST00000450766,NM_001143945.1;GAS6-AS1,non_coding_transcript_exon_variant,,ENST00000458001,;GAS6,upstream_gene_variant,,ENST00000480426,;GAS6,upstream_gene_variant,,ENST00000610073,;							MODERATE	493/2037	G165W	GAS6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000331831		CCDS45072.1			1	
KIF21B	0	LGGM	GRCh37	1	200959313	200959313	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	42	3	.	.	ENST00000422435.2:c.2983G>T	p.Gly995Cys	p.G995C	ENST00000422435	NM_001252100.1	995	Ggc/Tgc	0	1	1	UPI0000153E7C	0	NA	ENST00000422435		ENSG00000116852	29442		45	-0.69		HGNC	p.G995C		KIF21B		SNV							ENST00000360529	protein_coding	getma.org/?cm=var&var=hg19,1,200959313,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF335,Superfamily_domains:SSF46579		G/C		A	neutral	3300/5519		getma.org/?cm=msa&ty=f&p=KI21B_HUMAN&rb=716&re=1297&var=G995C	deleterious(0.02)				YES	KIF21B,missense_variant,p.Gly995Cys,ENST00000332129,NM_001252103.1,NM_001252102.1,NM_017596.3;KIF21B,missense_variant,p.Gly995Cys,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Gly995Cys,ENST00000461742,;KIF21B,missense_variant,p.Gly995Cys,ENST00000360529,;							MODERATE	2983/4914	G995C	KI21B_HUMAN			Transcript		benign(0.081)	.	ENSP00000411831		CCDS58056.1			1	
PPDPF	0	LGGM	GRCh37	20	62153084	62153084	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	3	.	.	ENST00000370179.3:c.197C>A	p.Pro66Gln	p.P66Q	ENST00000370179	NM_024299.2	66	cCg/cAg	0	1	1	UPI000003BBD7	0	NA	ENST00000370179		ENSG00000125534	16142		41	2.545		HGNC	p.P92Q	rs746864601	PPDPF	6.08E-05	SNV							ENST00000370177	protein_coding	getma.org/?cm=var&var=hg19,20,62153084,C,A&fts=all		Pfam_domain:PF15060,hmmpanther:PTHR14572,hmmpanther:PTHR14572:SF0		P/Q		A	medium	393/868		getma.org/?cm=msa&ty=f&p=PPDPF_HUMAN&rb=1&re=112&var=P66Q	deleterious(0)				YES	PPDPF,missense_variant,p.Pro66Gln,ENST00000370179,NM_024299.2;PPDPF,missense_variant,p.Pro92Gln,ENST00000370177,;PPDPF,non_coding_transcript_exon_variant,,ENST00000473620,;PPDPF,downstream_gene_variant,,ENST00000464438,;							MODERATE	197/345	P66Q	PPDPF_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000359198	8.24E-06	CCDS13523.1			1	
CYP24A1	0	LGGM	GRCh37	20	52789499	52789499	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	29	3	.	.	ENST00000216862.3:c.398C>A	p.Pro133Gln	p.P133Q	ENST00000216862	NM_000782.4	133	cCg/cAg	0	1	1	UPI00001281B8	0	getma.org/pdb.php?prot=CP24A_HUMAN&from=58&to=512&var=P133Q	ENST00000216862		ENSG00000019186	2602		32	2.175		HGNC	p.P133Q		CYP24A1		SNV			1				ENST00000216862	protein_coding	getma.org/?cm=var&var=hg19,20,52789499,G,T&fts=all		Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24291:SF5,hmmpanther:PTHR24291		P/Q		T	medium	792/3262		getma.org/?cm=msa&ty=f&p=CP24A_HUMAN&rb=58&re=512&var=P133Q	deleterious(0)				YES	CYP24A1,missense_variant,p.Pro133Gln,ENST00000216862,NM_000782.4;CYP24A1,missense_variant,p.Pro133Gln,ENST00000395955,NM_001128915.1;CYP24A1,upstream_gene_variant,,ENST00000395954,;CYP24A1,non_coding_transcript_exon_variant,,ENST00000472970,;							MODERATE	398/1545	P133Q	CP24A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216862		CCDS33491.1			1	
FUBP3	0	LGGM	GRCh37	9	133507351	133507351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	30	3	.	.	ENST00000319725.9:c.1375G>T	p.Gly459Trp	p.G459W	ENST00000319725	NM_003934.1	459	Ggg/Tgg	0	1	1	UPI00001C1EAA	0	NA	ENST00000319725		ENSG00000107164	4005		33	0.895		HGNC	p.G459W		FUBP3		SNV							ENST00000319725	protein_coding	getma.org/?cm=var&var=hg19,9,133507351,G,T&fts=all		hmmpanther:PTHR10288:SF100,hmmpanther:PTHR10288		G/W		T	low	1450/3124		getma.org/?cm=msa&ty=f&p=FUBP3_HUMAN&rb=422&re=572&var=G459W	deleterious(0.03)				YES	FUBP3,missense_variant,p.Gly459Trp,ENST00000319725,NM_003934.1;FUBP3,non_coding_transcript_exon_variant,,ENST00000487406,;FUBP3,upstream_gene_variant,,ENST00000492199,;FUBP3,upstream_gene_variant,,ENST00000472006,;							MODERATE	1375/1719	G459W	FUBP3_HUMAN			Transcript		possibly_damaging(0.656)	.	ENSP00000318177		CCDS43893.1			1	
EN1	0	LGGM	GRCh37	2	119604317	119604317	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	12	3	.	.	ENST00000295206.6:c.427G>T	p.Glu143Ter	p.E143*	ENST00000295206	NM_001426.3	143	Gag/Tag	0	1	1	UPI000013E21D	0	NA	ENST00000295206		ENSG00000163064	3342		15	0		HGNC	p.E143X		EN1		SNV							ENST00000295206	protein_coding	getma.org/?cm=var&var=hg19,2,119604317,C,A&fts=all		hmmpanther:PTHR24341,hmmpanther:PTHR24341:SF4		E/*		A	NA	938/2457		NA					YES	EN1,stop_gained,p.Glu143Ter,ENST00000295206,NM_001426.3;EN1,upstream_gene_variant,,ENST00000546667,;							HIGH	427/1179	E143*	HME1_HUMAN			Transcript			.	ENSP00000295206		CCDS2123.1			1	
OBP2A	0	LGGM	GRCh37	9	138438725	138438725	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	19	3	.	.	ENST00000539850.1:c.174C>T	p.Gly58=	p.G58=	ENST00000539850		58	ggC/ggT	0	1		UPI00000377BA	0		ENST00000371776		ENSG00000122136	23380		22			HGNC	p.G58G	rs561640530,COSM262496	OBP2A		SNV						0,1	ENST00000539850	protein_coding		T:0	Prints_domain:PR01175,Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11430,hmmpanther:PTHR11430:SF6		G		T		216/689					T:0	T:0		OBP2A,synonymous_variant,p.=,ENST00000539850,;OBP2A,synonymous_variant,p.=,ENST00000340780,;OBP2A,synonymous_variant,p.=,ENST00000371776,NM_014582.2;OBP2A,intron_variant,,ENST00000342114,;OBP2A,synonymous_variant,p.=,ENST00000471886,;OBP2A,intron_variant,,ENST00000537747,;		T:0.0002			0,1		LOW	174/513		OBP2A_HUMAN		T:0	Transcript			.	ENSP00000360841		CCDS6992.1		T:0.001	1	
PLA2G4C	0	LGGM	GRCh37	19	48609797	48609797	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	28	3	.	.	ENST00000599111.1:c.51C>A	p.Thr17=	p.T17=	ENST00000599111	NM_003706.2	17	acC/acA	0	1		UPI00001AF235	0		ENST00000599921		ENSG00000105499	9037		31			HGNC	p.T17T	rs570635333	PLA2G4C		SNV				9.63E-05			ENST00000599111	protein_coding		T:0.0008					T		348/1984				Q76EZ0_HUMAN,Q76EY9_HUMAN,M0R1B4_HUMAN,M0R0F6_HUMAN	T:0	T:0		PLA2G4C,synonymous_variant,p.=,ENST00000599111,NM_003706.2,NM_001159322.1;PLA2G4C,5_prime_UTR_variant,,ENST00000354276,NM_001159323.1;PLA2G4C,5_prime_UTR_variant,,ENST00000599921,;PLA2G4C,5_prime_UTR_variant,,ENST00000596138,;PLA2G4C,intron_variant,,ENST00000596352,;PLA2G4C,upstream_gene_variant,,ENST00000413144,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000594156,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000598813,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000595899,;PLA2G4C,3_prime_UTR_variant,,ENST00000595487,;PLA2G4C,3_prime_UTR_variant,,ENST00000598488,;PLA2G4C,non_coding_transcript_exon_variant,,ENST00000599063,;PLA2G4C,upstream_gene_variant,,ENST00000600170,;		T:0.0002					MODIFIER	-/1626		PA24C_HUMAN		T:0	Transcript			.	ENSP00000469473	8.24E-06	CCDS12710.1		T:0	1	
CALHM1	0	LGGM	GRCh37	10	105215502	105215502	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	18	3	.	.	ENST00000329905.5:c.558G>T	p.Ala186=	p.A186=	ENST00000329905	NM_001001412.3	186	gcG/gcT	0	1	1	UPI000016144D	0		ENST00000329905		ENSG00000185933	23494		21			HGNC	p.A186A	COSM309832	CALHM1		SNV						1	ENST00000329905	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR32261:SF2,hmmpanther:PTHR32261,Pfam_domain:PF14798		A		A		695/3053							YES	CALHM1,splice_region_variant,p.=,ENST00000329905,NM_001001412.3;CALHM2,upstream_gene_variant,,ENST00000393235,;CALHM2,upstream_gene_variant,,ENST00000260743,NM_015916.4;CALHM2,upstream_gene_variant,,ENST00000369788,;RP11-225H22.4,intron_variant,,ENST00000411906,;RP11-225H22.7,downstream_gene_variant,,ENST00000608063,;CALHM2,upstream_gene_variant,,ENST00000494180,;CALHM2,upstream_gene_variant,,ENST00000461631,;CALHM2,upstream_gene_variant,,ENST00000480642,;CALHM2,upstream_gene_variant,,ENST00000474797,;CALHM2,upstream_gene_variant,,ENST00000463878,;					1		LOW	558/1041		CAHM1_HUMAN			Transcript			.	ENSP00000329926		CCDS7550.1			1	
NAV2	0	LGGM	GRCh37	11	20065676	20065676	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	28	3	.	.	ENST00000396087.3:c.3126C>A	p.Ser1042=	p.S1042=	ENST00000396087	NM_001244963.1	1042	tcC/tcA	0	1	1	UPI00001E0580	0		ENST00000396087		ENSG00000166833	15997		31			HGNC	p.S105S		NAV2		SNV							ENST00000525322	protein_coding			hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		S		A		3225/7882							YES	NAV2,synonymous_variant,p.=,ENST00000396085,NM_182964.5;NAV2,synonymous_variant,p.=,ENST00000349880,NM_145117.4;NAV2,synonymous_variant,p.=,ENST00000360655,NM_001111018.1;NAV2,synonymous_variant,p.=,ENST00000540292,;NAV2,synonymous_variant,p.=,ENST00000527559,;NAV2,synonymous_variant,p.=,ENST00000396087,NM_001244963.1;NAV2,synonymous_variant,p.=,ENST00000311043,;NAV2,synonymous_variant,p.=,ENST00000533917,NM_001111019.2;NAV2,synonymous_variant,p.=,ENST00000525322,;NAV2,synonymous_variant,p.=,ENST00000530408,;NAV2-AS2,non_coding_transcript_exon_variant,,ENST00000533767,;NAV2,non_coding_transcript_exon_variant,,ENST00000534299,;NAV2,non_coding_transcript_exon_variant,,ENST00000526675,;							LOW	3126/7467		NAV2_HUMAN			Transcript			.	ENSP00000379396		CCDS58126.1			1	
KIAA2022	0	LGGM	GRCh37	X	73960432	73960432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	34	3	.	.	ENST00000055682.6:c.3960G>T	p.Leu1320Phe	p.L1320F	ENST00000055682	NM_001008537.2	1320	ttG/ttT	0	1	1	UPI00001C207B	0	NA	ENST00000055682		ENSG00000050030	29433		37	1.04		HGNC	p.L1320F		KIAA2022		SNV			1				ENST00000373468	protein_coding	getma.org/?cm=var&var=hg19,X,73960432,C,A&fts=all		hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF2		L/F		A	low	4572/11719		getma.org/?cm=msa&ty=f&p=K2022_HUMAN&rb=1051&re=1515&var=L1320F	deleterious(0)				YES	KIAA2022,missense_variant,p.Leu1320Phe,ENST00000055682,NM_001008537.2;KIAA2022,upstream_gene_variant,,ENST00000424929,;							MODERATE	3960/4551	L1320F	K2022_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000055682		CCDS35337.1			1	
TUBGCP6	0	LGGM	GRCh37	22	50657020	50657020	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	17	3	.	.	ENST00000248846.5:c.4851C>A	p.Thr1617=	p.T1617=	ENST00000248846		1617	acC/acA	0	1	1	UPI000013CC55	0		ENST00000248846		ENSG00000128159	18127		20			HGNC	p.T303T		TUBGCP6		SNV			1				ENST00000425018	protein_coding			Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32		T		T		4956/5612							YES	TUBGCP6,synonymous_variant,p.=,ENST00000248846,;TUBGCP6,synonymous_variant,p.=,ENST00000425018,;TUBGCP6,3_prime_UTR_variant,,ENST00000439308,NM_020461.3;SELO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;							LOW	4851/5460		GCP6_HUMAN			Transcript			.	ENSP00000248846		CCDS14087.1			1	
TYRO3	0	LGGM	GRCh37	15	41853347	41853347	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	29	3	.	.	ENST00000263798.3:c.147G>T	p.Pro49=	p.P49=	ENST00000263798	NM_006293.3	49	ccG/ccT	0	1	1	UPI000013788A	0		ENST00000263798		ENSG00000092445	12446		32			HGNC	p.P4P		TYRO3		SNV							ENST00000559066	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		T		371/3949				Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN			YES	TYRO3,synonymous_variant,p.=,ENST00000263798,NM_006293.3;TYRO3,synonymous_variant,p.=,ENST00000559066,;TYRO3,non_coding_transcript_exon_variant,,ENST00000560992,;TYRO3,upstream_gene_variant,,ENST00000560227,;TCEB1P2,downstream_gene_variant,,ENST00000566760,;							LOW	147/2673		TYRO3_HUMAN			Transcript			.	ENSP00000263798		CCDS10080.1			1	
LRRC43	0	LGGM	GRCh37	12	122687983	122687983	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	12	3	.	.	ENST00000339777.4:c.1965C>A	p.Ala655=	p.A655=	ENST00000339777	NM_152759.4	655	gcC/gcA	0	1	1	UPI00015347BE	0		ENST00000339777		ENSG00000158113	28562		15			HGNC	p.A470A		LRRC43		SNV							ENST00000425921	protein_coding			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF224		A		A		1993/2028				F5H0N3_HUMAN			YES	LRRC43,synonymous_variant,p.=,ENST00000339777,NM_152759.4;LRRC43,synonymous_variant,p.=,ENST00000425921,NM_001098519.1;B3GNT4,upstream_gene_variant,,ENST00000535274,;B3GNT4,upstream_gene_variant,,ENST00000546192,;DIABLO,downstream_gene_variant,,ENST00000464942,NM_001278304.1;DIABLO,downstream_gene_variant,,ENST00000443649,NM_019887.5;DIABLO,downstream_gene_variant,,ENST00000413918,;B3GNT4,upstream_gene_variant,,ENST00000324189,NM_030765.2;DIABLO,downstream_gene_variant,,ENST00000353548,NM_001278342.1;DIABLO,downstream_gene_variant,,ENST00000267169,NM_138930.3;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000541273,;LRRC43,downstream_gene_variant,,ENST00000537733,;B3GNT4,upstream_gene_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000541498,;B3GNT4,upstream_gene_variant,,ENST00000537991,;B3GNT4,upstream_gene_variant,,ENST00000538257,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;DIABLO,downstream_gene_variant,,ENST00000342392,;							LOW	1965/1971		LRC43_HUMAN			Transcript			.	ENSP00000344233		CCDS45001.1			1	
ECE2	0	LGGM	GRCh37	3	183975266	183975266	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	35	3	.	.	ENST00000402825.3:c.202G>T	p.Gly68Trp	p.G68W	ENST00000402825	NM_014693.3	68	Ggg/Tgg	0	1	1	UPI0001596888	0	getma.org/pdb.php?prot=ECE2_HUMAN&from=63&to=158&var=G68W	ENST00000402825		ENSG00000145194	13275		38	4.235		HGNC	p.G68W	COSM3673906,COSM3673905	ECE2		SNV						1,1	ENST00000324557	protein_coding	getma.org/?cm=var&var=hg19,3,183975266,G,T&fts=all		Pfam_domain:PF08241,Gene3D:3.40.50.150,Superfamily_domains:SSF53335		G/W		T	high	202/3445		getma.org/?cm=msa&ty=f&p=ECE2_HUMAN&rb=63&re=158&var=G68W	deleterious_low_confidence(0)				YES	ECE2,missense_variant,p.Gly68Trp,ENST00000402825,NM_014693.3;ECE2,missense_variant,p.Gly68Trp,ENST00000324557,NM_032331.3;EIF2B5,intron_variant,,ENST00000444495,;CAMK2N2,downstream_gene_variant,,ENST00000296238,NM_033259.2;					1,1		MODERATE	202/2652	G68W	ECE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384223		CCDS3256.2			1	
MACF1	0	LGGM	GRCh37	1	39853380	39853380	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	3	.	.	ENST00000545844.1:c.8680C>A	p.Arg2894Ser	p.R2894S	ENST00000545844		2894	Cgc/Agc	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		41	2.045		HGNC	p.R4956S		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39853380,C,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/S		A	medium	14968/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=2801&re=3000&var=R2894S		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Arg4956Ser,ENST00000564288,;MACF1,missense_variant,p.Arg4993Ser,ENST00000567887,;MACF1,missense_variant,p.Arg4961Ser,ENST00000372915,;MACF1,missense_variant,p.Arg3396Ser,ENST00000289893,;MACF1,missense_variant,p.Arg2894Ser,ENST00000545844,;MACF1,missense_variant,p.Arg2894Ser,ENST00000317713,;MACF1,missense_variant,p.Arg2894Ser,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Arg2873Ser,ENST00000539005,;MACF1,missense_variant,p.Arg2007Ser,ENST00000372925,;							MODERATE	14881/22167	R2894S	MACF1_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000362006					1	
ITPK1	0	LGGM	GRCh37	14	93429131	93429131	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	33	3	.	.	ENST00000267615.6:c.428G>T	p.Arg143Leu	p.R143L	ENST00000267615		143	cGg/cTg	0	1	1	UPI000006F88A	0	getma.org/pdb.php?prot=ITPK1_HUMAN&from=1&to=318&var=R143L	ENST00000267615		ENSG00000100605	6177		36	1.15		HGNC	p.R24L		ITPK1		SNV							ENST00000555495	protein_coding	getma.org/?cm=var&var=hg19,14,93429131,C,A&fts=all		Pfam_domain:PF05770,PROSITE_profiles:PS50975,hmmpanther:PTHR14217,hmmpanther:PTHR14217:SF1,Superfamily_domains:SSF56059		R/L		A	low	602/6066		getma.org/?cm=msa&ty=f&p=ITPK1_HUMAN&rb=1&re=318&var=R143L	tolerated(0.1)	G3V588_HUMAN,G3V4M9_HUMAN			YES	ITPK1,missense_variant,p.Arg143Leu,ENST00000267615,;ITPK1,missense_variant,p.Arg143Leu,ENST00000556603,NM_001142593.1,NM_014216.4;ITPK1,missense_variant,p.Arg24Leu,ENST00000555495,;ITPK1,missense_variant,p.Arg143Leu,ENST00000354313,NM_001142594.1;ITPK1,missense_variant,p.Arg143Leu,ENST00000557309,;ITPK1,missense_variant,p.Arg149Leu,ENST00000555553,;ITPK1,missense_variant,p.Arg161Leu,ENST00000556185,;ITPK1,missense_variant,p.Arg101Leu,ENST00000554999,;ITPK1,missense_variant,p.Arg143Leu,ENST00000553452,;ITPK1,non_coding_transcript_exon_variant,,ENST00000556954,;ITPK1,non_coding_transcript_exon_variant,,ENST00000553695,;ITPK1,downstream_gene_variant,,ENST00000553655,;							MODERATE	428/1245	R143L	ITPK1_HUMAN			Transcript		benign(0.003)	.	ENSP00000267615		CCDS9907.1			1	
ACSM1	0	LGGM	GRCh37	16	20636748	20636748	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	10	3	.	.	ENST00000307493.4:c.1524G>A	p.Gly508=	p.G508=	ENST00000307493	NM_052956.2	508	ggG/ggA	0	1	1	UPI00000558D0	0		ENST00000307493		ENSG00000166743	18049		13			HGNC	p.G159G	COSM3507014,COSM3507015	ACSM1		SNV						1,1	ENST00000219151	protein_coding			Gene3D:3.30.300.30,Pfam_domain:PF13193,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF150,Superfamily_domains:SSF56801		G		T		1592/2051				E5RFK0_HUMAN			YES	ACSM1,synonymous_variant,p.=,ENST00000219151,;ACSM1,synonymous_variant,p.=,ENST00000307493,NM_052956.2;ACSM1,synonymous_variant,p.=,ENST00000520010,;ACSM1,synonymous_variant,p.=,ENST00000524149,;ACSM3,intron_variant,,ENST00000568235,;ACSM1,non_coding_transcript_exon_variant,,ENST00000519031,;ACSM1,intron_variant,,ENST00000519745,;					1,1		LOW	1524/1734		ACSM1_HUMAN			Transcript			.	ENSP00000301956		CCDS10587.1			1	
TULP4	0	LGGM	GRCh37	6	158900964	158900964	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	29	3	.	.	ENST00000367097.3:c.1208G>T	p.Arg403Leu	p.R403L	ENST00000367097	NM_020245.4	403	cGc/cTc	0	1	1	UPI000013CD76	0	NA	ENST00000367097		ENSG00000130338	15530		32	0.55		HGNC	p.R403L		TULP4		SNV							ENST00000367097	protein_coding	getma.org/?cm=var&var=hg19,6,158900964,G,T&fts=all		Pfam_domain:PF07525,PROSITE_profiles:PS50225,hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2,SMART_domains:SM00969,Superfamily_domains:SSF49842		R/L		T	neutral	2565/11123		getma.org/?cm=msa&ty=f&p=TULP4_HUMAN&rb=374&re=411&var=R403L	tolerated(0.21)				YES	TULP4,missense_variant,p.Arg403Leu,ENST00000367097,NM_020245.4;TULP4,missense_variant,p.Arg403Leu,ENST00000367094,NM_001007466.2;							MODERATE	1208/4632	R403L	TULP4_HUMAN			Transcript		benign(0.069)	.	ENSP00000356064		CCDS34561.1			1	
MYO1F	0	LGGM	GRCh37	19	8604888	8604888	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	19	3	.	.	ENST00000338257.8:c.1635C>A	p.Pro545=	p.P545=	ENST00000338257	NM_012335.3	545	ccC/ccA	0	1	1	UPI00001678F0	0		ENST00000338257		ENSG00000142347	7600		22			HGNC	p.P23P		MYO1F		SNV							ENST00000598005	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,PROSITE_profiles:PS51456		P		T		1903/4303				Q14779_HUMAN,M0QXU2_HUMAN			YES	MYO1F,synonymous_variant,p.=,ENST00000338257,NM_012335.3;MYO1F,synonymous_variant,p.=,ENST00000598005,;MYO1F,non_coding_transcript_exon_variant,,ENST00000597222,;MYO1F,downstream_gene_variant,,ENST00000602136,;MYO1F,downstream_gene_variant,,ENST00000601502,;							LOW	1635/3297		MYO1F_HUMAN			Transcript			.	ENSP00000344871		CCDS42494.1			1	
FHDC1	0	LGGM	GRCh37	4	153895872	153895872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	16	3	.	.	ENST00000511601.1:c.1429C>A	p.Leu477Met	p.L477M	ENST00000511601		477	Ctg/Atg	0	1		UPI00001D7673	0	NA	ENST00000260008		ENSG00000137460	29363		19	2.25		HGNC	p.L477M		FHDC1		SNV							ENST00000260008	protein_coding	getma.org/?cm=var&var=hg19,4,153895872,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213,SMART_domains:SM00498		L/M		A	medium	1504/6480		getma.org/?cm=msa&ty=f&p=FHDC1_HUMAN&rb=87&re=482&var=L477M	deleterious(0)					FHDC1,missense_variant,p.Leu477Met,ENST00000511601,;FHDC1,missense_variant,p.Leu477Met,ENST00000260008,NM_033393.2;							MODERATE	1429/3432	L477M	FHDC1_HUMAN			Transcript		possibly_damaging(0.763)	.	ENSP00000260008		CCDS34081.1			1	
PTK7	0	LGGM	GRCh37	6	43099857	43099857	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	24	3	.	.	ENST00000481273.1:c.940C>G	p.Gln314Glu	p.Q314E	ENST00000481273	NM_001270398.1	314	Cag/Gag	0	1		UPI0000001BDB	0	getma.org/pdb.php?prot=PTK7_HUMAN&from=225&to=308&var=Q306E	ENST00000230419		ENSG00000112655	9618		27	0.665		HGNC	p.Q306E		PTK7		SNV							ENST00000471863	protein_coding	getma.org/?cm=var&var=hg19,6,43099857,C,G&fts=all		hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF14,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/E		G	neutral	1137/4272		getma.org/?cm=msa&ty=f&p=PTK7_HUMAN&rb=225&re=308&var=Q306E	tolerated(0.3)	F8WDG7_HUMAN				PTK7,missense_variant,p.Gln306Glu,ENST00000230419,NM_002821.4;PTK7,missense_variant,p.Gln306Glu,ENST00000345201,NM_152880.3;PTK7,missense_variant,p.Gln306Glu,ENST00000352931,NM_152882.3;PTK7,missense_variant,p.Gln306Glu,ENST00000349241,NM_152881.3;PTK7,missense_variant,p.Gln314Glu,ENST00000481273,NM_001270398.1;PTK7,missense_variant,p.Gln306Glu,ENST00000471863,;PTK7,missense_variant,p.Gln59Glu,ENST00000481946,;PTK7,upstream_gene_variant,,ENST00000489707,;PTK7,downstream_gene_variant,,ENST00000476760,;PTK7,missense_variant,p.Gln306Glu,ENST00000230418,;PTK7,3_prime_UTR_variant,,ENST00000470019,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;PTK7,non_coding_transcript_exon_variant,,ENST00000490710,;							MODERATE	916/3213	Q306E	PTK7_HUMAN			Transcript		benign(0.005)	.	ENSP00000230419		CCDS4884.1			1	
MYO1E	0	LGGM	GRCh37	15	59429636	59429636	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	24	3	.	.	ENST00000288235.4:c.3270G>T	p.Thr1090=	p.T1090=	ENST00000288235	NM_004998.3	1090	acG/acT	0	1	1	UPI00001FE590	0		ENST00000288235		ENSG00000157483	7599		27			HGNC	p.T1090T		MYO1E		SNV			1				ENST00000288235	protein_coding			Gene3D:2.30.30.40,Pfam_domain:PF00018,Prints_domain:PR00452,PROSITE_profiles:PS50002,SMART_domains:SM00326,Superfamily_domains:SSF50044		T		A		3670/6193				Q4KMR3_HUMAN			YES	MYO1E,synonymous_variant,p.=,ENST00000288235,NM_004998.3;MYO1E,intron_variant,,ENST00000559412,;RP11-59H7.3,downstream_gene_variant,,ENST00000559026,;							LOW	3270/3327		MYO1E_HUMAN			Transcript			.	ENSP00000288235		CCDS32254.1			1	
PLVAP	0	LGGM	GRCh37	19	17476663	17476663	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	40	3	.	.	ENST00000252590.4:c.611G>T	p.Arg204Leu	p.R204L	ENST00000252590	NM_031310.1	204	cGg/cTg	0	1	1	UPI000003ED36	0	NA	ENST00000252590		ENSG00000130300	13635		43	0.895		HGNC	p.R204L		PLVAP		SNV							ENST00000252590	protein_coding	getma.org/?cm=var&var=hg19,19,17476663,C,A&fts=all		Pfam_domain:PF06637,hmmpanther:PTHR21687,hmmpanther:PTHR21687:SF2		R/L		A	low	673/2305		getma.org/?cm=msa&ty=f&p=PLVAP_HUMAN&rb=1&re=442&var=R204L	tolerated(0.13)				YES	PLVAP,missense_variant,p.Arg204Leu,ENST00000252590,NM_031310.1;PLVAP,intron_variant,,ENST00000599426,;PLVAP,intron_variant,,ENST00000595816,;CTD-2278I10.1,downstream_gene_variant,,ENST00000597592,;							MODERATE	611/1329	R204L	PLVAP_HUMAN			Transcript		benign(0.028)	.	ENSP00000252590		CCDS32952.1			1	
PLEKHG3	0	LGGM	GRCh37	14	65198260	65198260	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	37	3	.	.	ENST00000247226.7:c.863C>A	p.Pro288Gln	p.P288Q	ENST00000247226	NM_015549.1	288	cCg/cAg	0	1		UPI0000ECF248	0	getma.org/pdb.php?prot=PKHG3_HUMAN&from=303&to=394&var=P344Q	ENST00000394691		ENSG00000126822	20364		40	0.345		HGNC	p.P344Q		PLEKHG3		SNV							ENST00000394691	protein_coding	getma.org/?cm=var&var=hg19,14,65198260,C,A&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR22143,hmmpanther:PTHR22143:SF4,PROSITE_profiles:PS50003		P/Q		A	neutral	1178/4396		getma.org/?cm=msa&ty=f&p=PKHG3_HUMAN&rb=303&re=394&var=P344Q	deleterious(0)	G3V3I3_HUMAN,G3V311_HUMAN,G3V278_HUMAN				PLEKHG3,missense_variant,p.Pro288Gln,ENST00000247226,NM_015549.1;PLEKHG3,missense_variant,p.Pro344Gln,ENST00000394691,;PLEKHG3,downstream_gene_variant,,ENST00000554499,;PLEKHG3,downstream_gene_variant,,ENST00000555982,;PLEKHG3,downstream_gene_variant,,ENST00000554088,;PLEKHG3,downstream_gene_variant,,ENST00000556801,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;							MODERATE	1031/3660	P344Q	PKHG3_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000378183					1	
KCNK5	0	LGGM	GRCh37	6	39159496	39159496	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	42	3	.	.	ENST00000359534.3:c.670C>A	p.Arg224Ser	p.R224S	ENST00000359534	NM_003740.3	224	Cgc/Agc	0	1	1	UPI000003AFB5	0	getma.org/pdb.php?prot=KCNK5_HUMAN&from=160&to=251&var=R224S	ENST00000359534		ENSG00000164626	6280		45	1.775		HGNC	p.R224S		KCNK5		SNV							ENST00000359534	protein_coding	getma.org/?cm=var&var=hg19,6,39159496,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324		R/S		T	low	1009/3756		getma.org/?cm=msa&ty=f&p=KCNK5_HUMAN&rb=160&re=251&var=R224S	deleterious(0)				YES	KCNK5,missense_variant,p.Arg224Ser,ENST00000359534,NM_003740.3;							MODERATE	670/1500	R224S	KCNK5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000352527		CCDS4841.1			1	
WDR96	0	LGGM	GRCh37	10	105971797	105971797	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	46	3	.	.	ENST00000357060.3:c.703G>T	p.Gly235Trp	p.G235W	ENST00000357060	NM_025145.5	235	Ggg/Tgg	0	1	1	UPI0000D60FC7	0	NA	ENST00000357060		ENSG00000197748	26684		49	2.255		HGNC	p.G235W		WDR96		SNV							ENST00000428666	protein_coding	getma.org/?cm=var&var=hg19,10,105971797,C,A&fts=all		hmmpanther:PTHR14885		G/W		A	medium	819/5365		getma.org/?cm=msa&ty=f&p=WDR96_HUMAN&rb=201&re=400&var=G235W	deleterious(0)				YES	WDR96,missense_variant,p.Gly235Trp,ENST00000357060,NM_025145.5;WDR96,missense_variant,p.Gly235Trp,ENST00000428666,;WDR96,missense_variant,p.Gly165Trp,ENST00000278064,;WDR96,missense_variant,p.Gly165Trp,ENST00000369720,;WDR96,missense_variant,p.Gly165Trp,ENST00000369719,;							MODERATE	703/4998	G235W	WDR96_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349568		CCDS31281.1			1	
EDC4	0	LGGM	GRCh37	16	67917909	67917909	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	34	3	.	.	ENST00000358933.5:c.4064G>T	p.Arg1355Leu	p.R1355L	ENST00000358933	NM_014329.4	1355	cGg/cTg	0	1	1	UPI0000141377	0	getma.org/pdb.php?prot=EDC4_HUMAN&from=1294&to=1401&var=R1355L	ENST00000358933		ENSG00000038358	17157		37	2.455		HGNC	p.R108L		EDC4		SNV							ENST00000573985	protein_coding	getma.org/?cm=var&var=hg19,16,67917909,G,T&fts=all		hmmpanther:PTHR15598		R/L		T	medium	4303/4800		getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=1294&re=1401&var=R1355L	deleterious(0)				YES	EDC4,missense_variant,p.Arg1355Leu,ENST00000358933,NM_014329.4;EDC4,missense_variant,p.Arg138Leu,ENST00000575033,;EDC4,missense_variant,p.Arg108Leu,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,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,downstream_gene_variant,,ENST00000575507,;EDC4,downstream_gene_variant,,ENST00000572724,;							MODERATE	4064/4206	R1355L	EDC4_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000351811		CCDS10849.1			1	
RHBDL3	0	LGGM	GRCh37	17	30647995	30647995	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	22	3	.	.	ENST00000269051.4:c.962G>T	p.Arg321Leu	p.R321L	ENST00000269051	NM_138328.2	321	cGg/cTg	0	1	1	UPI0000133858	0	NA	ENST00000269051		ENSG00000141314	16502		25	-0.44		HGNC	p.R313L		RHBDL3		SNV							ENST00000538145	protein_coding	getma.org/?cm=var&var=hg19,17,30647995,G,T&fts=all		Gene3D:2xovA00,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF14,Superfamily_domains:SSF144091,Transmembrane_helices:TMhelix		R/L		T	neutral	976/4661		getma.org/?cm=msa&ty=f&p=RHBL3_HUMAN&rb=205&re=362&var=R321L	tolerated(0.16)	Q495Y4_HUMAN			YES	RHBDL3,missense_variant,p.Arg321Leu,ENST00000269051,NM_138328.2;RHBDL3,missense_variant,p.Arg223Leu,ENST00000536287,;RHBDL3,missense_variant,p.Arg313Leu,ENST00000538145,;RHBDL3,synonymous_variant,p.=,ENST00000431505,;C17orf75,downstream_gene_variant,,ENST00000583104,;RP11-227G15.3,upstream_gene_variant,,ENST00000581915,;RP11-227G15.3,upstream_gene_variant,,ENST00000578389,;RHBDL3,3_prime_UTR_variant,,ENST00000578006,;RHBDL3,downstream_gene_variant,,ENST00000582967,;							MODERATE	962/1215	R321L	RHBL3_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000269051		CCDS32613.1			1	
RREB1	0	LGGM	GRCh37	6	7231469	7231469	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	24	3	.	.	ENST00000379938.2:c.3137G>T	p.Arg1046Leu	p.R1046L	ENST00000379938	NM_001003700.1	1046	cGg/cTg	0	1		UPI000020E495	0	NA	ENST00000349384		ENSG00000124782	10449		27	1.995		HGNC	p.R1046L		RREB1		SNV							ENST00000349384	protein_coding	getma.org/?cm=var&var=hg19,6,7231469,G,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF42,Low_complexity_(Seg):seg		R/L		T	medium	3451/7440		getma.org/?cm=msa&ty=f&p=RREB1_HUMAN&rb=953&re=1152&var=R1046L	tolerated(0.34)	C9JU34_HUMAN,C9JPJ6_HUMAN,C9JE09_HUMAN				RREB1,missense_variant,p.Arg1046Leu,ENST00000379938,NM_001003700.1,NM_001003699.3;RREB1,missense_variant,p.Arg1046Leu,ENST00000349384,NM_001003698.3;RREB1,missense_variant,p.Arg1046Leu,ENST00000379933,NM_001168344.1;RREB1,missense_variant,p.Arg1046Leu,ENST00000334984,;RREB1,downstream_gene_variant,,ENST00000483150,;							MODERATE	3137/5064	R1046L	RREB1_HUMAN			Transcript		benign(0.25)	.	ENSP00000305560		CCDS34336.1			1	
CASC5	0	LGGM	GRCh37	15	40916613	40916613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	47	3	.	.	ENST00000346991.5:c.4229C>A	p.Thr1410Lys	p.T1410K	ENST00000346991		1410	aCa/aAa	0	1	1	UPI0000E59BD3	0	NA	ENST00000346991		ENSG00000137812	24054		50	0.46		HGNC	p.T1384K		CASC5		SNV			1				ENST00000399668	protein_coding	getma.org/?cm=var&var=hg19,15,40916613,C,A&fts=all		hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2		T/K		A	neutral	4619/9573		getma.org/?cm=msa&ty=f&p=CASC5_HUMAN&rb=1&re=2177&var=T1410K	tolerated(0.08)				YES	CASC5,missense_variant,p.Thr1410Lys,ENST00000346991,;CASC5,missense_variant,p.Thr1384Lys,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,downstream_gene_variant,,ENST00000527044,;CASC5,upstream_gene_variant,,ENST00000532406,;CASC5,missense_variant,p.Thr429Lys,ENST00000526913,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;							MODERATE	4229/7029	T1410K	CASC5_HUMAN			Transcript		benign(0.016)	.	ENSP00000335463		CCDS42023.1			1	
SORCS2	0	LGGM	GRCh37	4	7677805	7677805	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	15	3	.	.	ENST00000507866.2:c.1190G>T	p.Ser397Ile	p.S397I	ENST00000507866	NM_020777.2	397	aGt/aTt	0	1	1	UPI0000EE6E4F	0	getma.org/pdb.php?prot=SORC2_HUMAN&from=45&to=783&var=S397I	ENST00000507866		ENSG00000184985	16698		18	1.04		HGNC	p.S397I		SORCS2		SNV							ENST00000507866	protein_coding	getma.org/?cm=var&var=hg19,4,7677805,G,T&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296		S/I		T	low	1299/6152		getma.org/?cm=msa&ty=f&p=SORC2_HUMAN&rb=45&re=783&var=S397I	deleterious(0.01)				YES	SORCS2,missense_variant,p.Ser397Ile,ENST00000507866,NM_020777.2;SORCS2,missense_variant,p.Ser225Ile,ENST00000329016,;							MODERATE	1190/3480	S397I	SORC2_HUMAN			Transcript		possibly_damaging(0.52)	.	ENSP00000422185		CCDS47008.1			1	
PSD2	0	LGGM	GRCh37	5	139219726	139219726	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	34	3	.	.	ENST00000274710.3:c.2083C>A	p.Arg695=	p.R695=	ENST00000274710	NM_032289.2	695	Cgg/Agg	0	1	1	UPI0000073C6B	0		ENST00000274710		ENSG00000146005	19092		37			HGNC	p.R695R		PSD2		SNV							ENST00000274710	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109		R		A		2288/4513							YES	PSD2,synonymous_variant,p.=,ENST00000274710,NM_032289.2;							LOW	2083/2316		PSD2_HUMAN			Transcript			.	ENSP00000274710		CCDS4216.1			1	
PCDH11X	0	LGGM	GRCh37	X	91132768	91132768	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	20	3	.	.	ENST00000373094.1:c.1529C>A	p.Pro510Gln	p.P510Q	ENST00000373094	NM_032968.3	510	cCa/cAa	0	1	1	UPI0000070BD8	0	getma.org/pdb.php?prot=PC11X_HUMAN&from=471&to=561&var=P510Q	ENST00000373094		ENSG00000102290	8656		23	1.06		HGNC	p.P510Q		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91132768,C,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268		P/Q		A	low	2374/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=471&re=561&var=P510Q	tolerated(0.07)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Pro510Gln,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Pro510Gln,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Pro510Gln,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Pro510Gln,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Pro510Gln,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Pro510Gln,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Pro510Gln,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Pro510Gln,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Pro510Gln,ENST00000298274,;							MODERATE	1529/4044	P510Q	PC11X_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362186		CCDS14461.1			1	
SLC25A45	0	LGGM	GRCh37	11	65144405	65144405	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	25	3	.	.	ENST00000398802.1:c.482G>T	p.Arg161Leu	p.R161L	ENST00000398802	NM_182556.2	161	cGg/cTg	0	1	1	UPI0000199B26	0	getma.org/pdb.php?prot=S2545_HUMAN&from=95&to=195&var=R161L	ENST00000398802		ENSG00000162241	27442		28	0.88		HGNC	p.R161L		SLC25A45		SNV							ENST00000398802	protein_coding	getma.org/?cm=var&var=hg19,11,65144405,C,A&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF249,PROSITE_profiles:PS50920		R/L		A	low	686/2286		getma.org/?cm=msa&ty=f&p=S2545_HUMAN&rb=95&re=195&var=R161L	tolerated(0.67)	E9PK53_HUMAN			YES	SLC25A45,missense_variant,p.Arg119Leu,ENST00000417511,NM_001278251.1;SLC25A45,missense_variant,p.Arg137Leu,ENST00000534028,NM_001278250.1;SLC25A45,missense_variant,p.Arg161Leu,ENST00000398802,NM_182556.2;SLC25A45,missense_variant,p.Arg137Leu,ENST00000360662,;SLC25A45,missense_variant,p.Arg119Leu,ENST00000294187,NM_001077241.1;SLC25A45,missense_variant,p.Arg161Leu,ENST00000527174,;SLC25A45,missense_variant,p.Arg57Leu,ENST00000377152,;SLC25A45,missense_variant,p.Arg99Leu,ENST00000526432,;SLC25A45,downstream_gene_variant,,ENST00000530936,;RP11-867O8.5,downstream_gene_variant,,ENST00000533886,;SLC25A45,3_prime_UTR_variant,,ENST00000526898,;SLC25A45,3_prime_UTR_variant,,ENST00000533629,;SLC25A45,3_prime_UTR_variant,,ENST00000526259,;SLC25A45,non_coding_transcript_exon_variant,,ENST00000531791,;SLC25A45,non_coding_transcript_exon_variant,,ENST00000534338,;SLC25A45,downstream_gene_variant,,ENST00000525944,;SLC25A45,downstream_gene_variant,,ENST00000524438,;SLC25A45,downstream_gene_variant,,ENST00000529962,;SLC25A45,downstream_gene_variant,,ENST00000529431,;							MODERATE	482/867	R161L	S2545_HUMAN			Transcript		benign(0.015)	.	ENSP00000381782		CCDS41670.1			1	
PITPNM2	0	LGGM	GRCh37	12	123472093	123472093	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	12	3	.	.	ENST00000320201.4:c.3228G>T	p.Leu1076=	p.L1076=	ENST00000320201	NM_020845.2	1076	ctG/ctT	0	1	1	UPI0000070D27	0		ENST00000320201		ENSG00000090975	21044		15			HGNC	p.L1070L		PITPNM2		SNV							ENST00000280562	protein_coding			hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41		L		A		3367/6736				Q9UF51_HUMAN,F5H664_HUMAN			YES	PITPNM2,synonymous_variant,p.=,ENST00000280562,;PITPNM2,synonymous_variant,p.=,ENST00000320201,NM_020845.2;PITPNM2,synonymous_variant,p.=,ENST00000542749,;PITPNM2,synonymous_variant,p.=,ENST00000392428,;ARL6IP4,downstream_gene_variant,,ENST00000315580,NM_001002251.2,NM_018694.3,NM_001278378.1;ARL6IP4,downstream_gene_variant,,ENST00000543566,NM_001278380.1,NM_001278379.1,NM_001002252.2,NM_016638.3;ARL6IP4,downstream_gene_variant,,ENST00000453766,;ARL6IP4,downstream_gene_variant,,ENST00000392435,;ARL6IP4,downstream_gene_variant,,ENST00000454885,;ARL6IP4,downstream_gene_variant,,ENST00000426960,;ARL6IP4,downstream_gene_variant,,ENST00000412505,;ARL6IP4,downstream_gene_variant,,ENST00000456762,;ARL6IP4,downstream_gene_variant,,ENST00000439686,;ARL6IP4,downstream_gene_variant,,ENST00000357866,;RP11-197N18.2,downstream_gene_variant,,ENST00000540866,;ARL6IP4,downstream_gene_variant,,ENST00000540708,;ARL6IP4,downstream_gene_variant,,ENST00000539576,;ARL6IP4,downstream_gene_variant,,ENST00000540382,;ARL6IP4,downstream_gene_variant,,ENST00000392433,;ARL6IP4,downstream_gene_variant,,ENST00000539770,;ARL6IP4,downstream_gene_variant,,ENST00000536502,;ARL6IP4,downstream_gene_variant,,ENST00000442210,;ARL6IP4,downstream_gene_variant,,ENST00000536073,;							LOW	3228/4050		PITM2_HUMAN			Transcript			.	ENSP00000322218		CCDS9242.1			1	
NPTX1	0	LGGM	GRCh37	17	78444806	78444806	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	16	3	.	.	ENST00000306773.4:c.1106C>A	p.Thr369Asn	p.T369N	ENST00000306773	NM_002522.3	369	aCc/aAc	0	1	1	UPI000013EB88	0	getma.org/pdb.php?prot=NPTX1_HUMAN&from=227&to=422&var=T369N	ENST00000306773		ENSG00000171246	7952		19	1.585		HGNC	p.T369N		NPTX1		SNV							ENST00000306773	protein_coding	getma.org/?cm=var&var=hg19,17,78444806,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00354,Prints_domain:PR00895,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF24,SMART_domains:SM00159,Superfamily_domains:SSF49899		T/N		T	low	1264/5122		getma.org/?cm=msa&ty=f&p=NPTX1_HUMAN&rb=227&re=422&var=T369N	deleterious(0)				YES	NPTX1,missense_variant,p.Thr369Asn,ENST00000306773,NM_002522.3;NPTX1,downstream_gene_variant,,ENST00000575212,;NPTX1,non_coding_transcript_exon_variant,,ENST00000535681,;NPTX1,downstream_gene_variant,,ENST00000571100,;							MODERATE	1106/1299	T369N	NPTX1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000307549		CCDS32762.1			1	
HDAC5	0	LGGM	GRCh37	17	42170460	42170460	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	12	3	.	.	ENST00000225983.6:c.644G>T	p.Trp215Leu	p.W215L	ENST00000225983		215	tGg/tTg	0	1		UPI0000201355	0	NA	ENST00000586802		ENSG00000108840	14068		15	2.045		HGNC	p.W214L		HDAC5		SNV							ENST00000586802	protein_coding	getma.org/?cm=var&var=hg19,17,42170460,C,A&fts=all		PIRSF_domain:PIRSF037911		W/L		A	medium	852/3662		getma.org/?cm=msa&ty=f&p=HDAC5_HUMAN&rb=134&re=333&var=W214L	deleterious(0.03)	K7EJZ7_HUMAN,K7EJL6_HUMAN				HDAC5,missense_variant,p.Trp215Leu,ENST00000225983,;HDAC5,missense_variant,p.Trp214Leu,ENST00000393622,NM_001015053.1,NM_005474.4;HDAC5,missense_variant,p.Trp214Leu,ENST00000336057,;HDAC5,missense_variant,p.Trp214Leu,ENST00000586802,;HDAC5,missense_variant,p.Trp33Leu,ENST00000588261,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,downstream_gene_variant,,ENST00000588703,;HDAC5,splice_region_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;							MODERATE	641/3369	W214L	HDAC5_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000468004		CCDS45696.1			1	
DMD	0	LGGM	GRCh37	X	31792190	31792190	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	44	3	.	.	ENST00000357033.4:c.7429C>A	p.Arg2477=	p.R2477=	ENST00000357033	NM_004007.2	2477	Cgg/Agg	0	1	1	UPI000049E111	0		ENST00000357033		ENSG00000198947	2928		47			HGNC	p.R17R		DMD		SNV			1				ENST00000359836	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		R		T		7636/13956				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			YES	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,synonymous_variant,p.=,ENST00000378707,NM_004013.2,NM_004014.2;DMD,synonymous_variant,p.=,ENST00000359836,NM_004022.2;DMD,synonymous_variant,p.=,ENST00000541735,NM_004020.3;DMD,synonymous_variant,p.=,ENST00000343523,NM_004023.2;DMD,synonymous_variant,p.=,ENST00000358062,;DMD,synonymous_variant,p.=,ENST00000474231,NM_004021.2;DMD,3_prime_UTR_variant,,ENST00000471779,;							LOW	7429/11058					Transcript			.	ENSP00000354923		CCDS14233.1			1	
HP	0	LGGM	GRCh37	16	72090441	72090441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	28	3	.	.	ENST00000355906.5:c.101C>A	p.Pro34Gln	p.P34Q	ENST00000355906	NM_005143.3	34	cCg/cAg	0	1	1	UPI000012CB71	0	getma.org/pdb.php?prot=HPT_HUMAN&from=1&to=129&var=P34Q	ENST00000355906		ENSG00000257017	5141		31	1.795		HGNC	p.P34Q		HP		SNV			1				ENST00000355906	protein_coding	getma.org/?cm=var&var=hg19,16,72090441,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF25,Gene3D:2.10.70.10,Superfamily_domains:SSF57535		P/Q		A	low	159/1443		getma.org/?cm=msa&ty=f&p=HPT_HUMAN&rb=1&re=129&var=P34Q	deleterious(0)	Q6PEJ8_HUMAN			YES	HP,missense_variant,p.Pro34Gln,ENST00000357763,;HP,missense_variant,p.Pro34Gln,ENST00000355906,NM_005143.3;HP,missense_variant,p.Pro34Gln,ENST00000398131,NM_001126102.1;HP,missense_variant,p.Pro33Gln,ENST00000567185,;HP,missense_variant,p.Pro33Gln,ENST00000567612,;HP,missense_variant,p.Pro34Gln,ENST00000565574,;HP,missense_variant,p.Pro33Gln,ENST00000576168,;HP,intron_variant,,ENST00000570083,;HPR,intron_variant,,ENST00000356967,;HP,intron_variant,,ENST00000564499,;HP,intron_variant,,ENST00000562526,;TXNL4B,intron_variant,,ENST00000562153,;HP,intron_variant,,ENST00000569639,;HP,intron_variant,,ENST00000568417,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,non_coding_transcript_exon_variant,,ENST00000565807,;HP,non_coding_transcript_exon_variant,,ENST00000561927,;HP,non_coding_transcript_exon_variant,,ENST00000562488,;							MODERATE	101/1221	P34Q	HPT_HUMAN			Transcript		benign(0.254)	.	ENSP00000348170		CCDS45524.1			1	
EYA2	0	LGGM	GRCh37	20	45717955	45717955	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	40	3	.	.	ENST00000327619.5:c.739G>T	p.Gly247Trp	p.G247W	ENST00000327619	NM_005244.4	247	Ggg/Tgg	0	1	1	UPI000012A3B4	0	NA	ENST00000327619		ENSG00000064655	3520		43	2.39		HGNC	p.G247W		EYA2		SNV							ENST00000357410	protein_coding	getma.org/?cm=var&var=hg19,20,45717955,G,T&fts=all		hmmpanther:PTHR10190:SF7,hmmpanther:PTHR10190		G/W		T	medium	1113/2702		getma.org/?cm=msa&ty=f&p=EYA2_HUMAN&rb=1&re=536&var=G247W	tolerated(0.06)	O60647_HUMAN			YES	EYA2,missense_variant,p.Gly247Trp,ENST00000327619,NM_005244.4;EYA2,missense_variant,p.Gly247Trp,ENST00000357410,NM_172110.3;EYA2,missense_variant,p.Gly247Trp,ENST00000317304,;EYA2,missense_variant,p.Gly118Trp,ENST00000458636,;EYA2,non_coding_transcript_exon_variant,,ENST00000475856,;EYA2,missense_variant,p.Gly223Trp,ENST00000497062,;							MODERATE	739/1617	G247W	EYA2_HUMAN			Transcript		benign(0.367)	.	ENSP00000333640		CCDS13403.1			1	
CCZ1	0	LGGM	GRCh37	7	5941301	5941301	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	23	3	.	.	ENST00000325974.6:c.404G>T	p.Ser135Ile	p.S135I	ENST00000325974	NM_015622.5	135	aGc/aTc	0	1	1	UPI000006CEFF	0	NA	ENST00000325974		ENSG00000122674	21691		26	0.69		HGNC	p.S135I		CCZ1		SNV							ENST00000325974	protein_coding	getma.org/?cm=var&var=hg19,7,5941301,G,T&fts=all		Pfam_domain:PF08217,hmmpanther:PTHR13056		S/I		T	neutral	470/1802		getma.org/?cm=msa&ty=f&p=CCZ1B_HUMAN&rb=1&re=200&var=S135I	tolerated(0.16)	Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1,missense_variant,p.Ser135Ile,ENST00000325974,NM_015622.5;CCZ1,5_prime_UTR_variant,,ENST00000537980,;CCZ1,non_coding_transcript_exon_variant,,ENST00000478672,;CCZ1,downstream_gene_variant,,ENST00000461592,;CCZ1,upstream_gene_variant,,ENST00000483394,;							MODERATE	404/1449	S135I	CCZ1_HUMAN			Transcript		benign(0.02)	.	ENSP00000325681		CCDS34597.1			1	
FAM179B	0	LGGM	GRCh37	14	45431886	45431886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	47	3	.	.	ENST00000361577.3:c.262G>T	p.Gly88Cys	p.G88C	ENST00000361577	NM_015091.2	88	Ggt/Tgt	0	1	1	UPI00001C1F79	0	NA	ENST00000361577		ENSG00000198718	19959		50	0.55		HGNC	p.G88C		FAM179B		SNV							ENST00000361577	protein_coding	getma.org/?cm=var&var=hg19,14,45431886,G,T&fts=all		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6,Low_complexity_(Seg):seg		G/C		T	neutral	476/6247		getma.org/?cm=msa&ty=f&p=F179B_HUMAN&rb=1&re=200&var=G88C	deleterious_low_confidence(0)				YES	FAM179B,missense_variant,p.Gly88Cys,ENST00000361462,;FAM179B,missense_variant,p.Gly88Cys,ENST00000361577,NM_015091.2;FAM179B,missense_variant,p.Gly88Cys,ENST00000382233,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000396128,NM_017658.3;KLHL28,upstream_gene_variant,,ENST00000355081,;KLHL28,upstream_gene_variant,,ENST00000556500,;KLHL28,upstream_gene_variant,,ENST00000579157,;KLHL28,upstream_gene_variant,,ENST00000557468,;KLHL28,downstream_gene_variant,,ENST00000553817,;FAM179B,missense_variant,p.Gly88Cys,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;							MODERATE	262/5163	G88C	F179B_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000355045		CCDS9681.1			1	
PDLIM5	0	LGGM	GRCh37	4	95497117	95497117	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	27	3	.	.	ENST00000514743.1:c.315C>A	p.Ser105=	p.S105=	ENST00000514743	NM_001256426.1	105	tcC/tcA	0	1		UPI00001401C7	0		ENST00000317968		ENSG00000163110	17468		30			HGNC	p.S105S		PDLIM5		SNV							ENST00000503974	protein_coding			hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF32		S		A		778/6083				Q4W5K9_HUMAN,F5H7Y0_HUMAN				PDLIM5,synonymous_variant,p.=,ENST00000317968,NM_001256428.1,NM_006457.4;PDLIM5,synonymous_variant,p.=,ENST00000437932,NM_001256425.1,NM_001011513.3;PDLIM5,synonymous_variant,p.=,ENST00000514743,NM_001256426.1;PDLIM5,synonymous_variant,p.=,ENST00000503974,NM_001256427.1;PDLIM5,synonymous_variant,p.=,ENST00000380180,NM_001011515.2;PDLIM5,synonymous_variant,p.=,ENST00000542407,;PDLIM5,synonymous_variant,p.=,ENST00000508216,;PDLIM5,synonymous_variant,p.=,ENST00000450793,;PDLIM5,synonymous_variant,p.=,ENST00000513341,;PDLIM5,intron_variant,,ENST00000318007,NM_001011516.2;PDLIM5,intron_variant,,ENST00000538141,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000514830,;PDLIM5,non_coding_transcript_exon_variant,,ENST00000508531,;PDLIM5,downstream_gene_variant,,ENST00000510099,;PDLIM5,upstream_gene_variant,,ENST00000511586,;PDLIM5,intron_variant,,ENST00000509357,;PDLIM5,downstream_gene_variant,,ENST00000509333,;							LOW	642/1791		PDLI5_HUMAN			Transcript			.	ENSP00000321746		CCDS3641.1			1	
OR14A16	0	LGGM	GRCh37	1	247979029	247979029	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	31	3	.	.	ENST00000357627.1:c.3G>T	p.Met1?	p.M1?	ENST00000357627	NM_001001966.1	1	atG/atT	0	1	1	UPI0000041CE2	0	NA	ENST00000357627		ENSG00000196772	15022		34	0		HGNC	p.M1I		OR14A16		SNV							ENST00000357627	protein_coding	getma.org/?cm=var&var=hg19,1,247979029,C,A&fts=all		hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,Gene3D:1.20.1070.10		M/I		A	NA	3/930		http://getma.org/?cm=msa&ty=f&p=O14AG_HUMAN&rb=1&re=137&var=M1I	deleterious(0.04)				YES	OR14A16,start_lost,p.Met1?,ENST00000357627,NM_001001966.1;							HIGH	3/930	M1I	O14AG_HUMAN			Transcript		benign(0.025)	.	ENSP00000350248		CCDS31097.1			1	
ANXA11	0	LGGM	GRCh37	10	81923138	81923138	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	13	4	.	.	ENST00000438331.1:c.1053C>T	p.Asn351=	p.N351=	ENST00000438331	NM_145869.1	351	aaC/aaT	0	1		UPI0000125B8D	0		ENST00000372231		ENSG00000122359	535		17			HGNC	p.N351N	rs781321967	ANXA11		SNV							ENST00000372231	protein_coding			hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF29,Gene3D:1.10.220.10,Superfamily_domains:SSF47874		N		A		1291/6720	1.50E-05			Q5T0G9_HUMAN,Q5T0G8_HUMAN,Q5T0G7_HUMAN,B4DVE7_HUMAN				ANXA11,synonymous_variant,p.=,ENST00000438331,NM_145869.1;ANXA11,synonymous_variant,p.=,ENST00000372231,;ANXA11,synonymous_variant,p.=,ENST00000360615,;ANXA11,synonymous_variant,p.=,ENST00000535999,NM_001278408.1;ANXA11,synonymous_variant,p.=,ENST00000422982,NM_001278407.1,NM_145868.1;ANXA11,synonymous_variant,p.=,ENST00000265447,NM_001157.2;ANXA11,synonymous_variant,p.=,ENST00000537102,NM_001278409.1;ANXA11,upstream_gene_variant,,ENST00000447489,;ANXA11,downstream_gene_variant,,ENST00000481805,;							LOW	1053/1518		ANX11_HUMAN			Transcript			.	ENSP00000361305	8.24E-06	CCDS7364.1			1	
MAPKAP1	0	LGGM	GRCh37	9	128201254	128201254	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	48	4	.	.	ENST00000265960.3:c.1481G>T	p.Arg494Leu	p.R494L	ENST00000265960	NM_001006617.1	494	cGg/cTg	0	1	1	UPI00000372F6	0	NA	ENST00000265960		ENSG00000119487	18752		52	0.895		HGNC	p.R458L	COSM325763	MAPKAP1		SNV						1	ENST00000350766	protein_coding	getma.org/?cm=var&var=hg19,9,128201254,C,A&fts=all		hmmpanther:PTHR13335		R/L		A	low	1814/3395		getma.org/?cm=msa&ty=f&p=SIN1_HUMAN&rb=482&re=522&var=R494L	deleterious(0)	B1AMB1_HUMAN,B1AMA6_HUMAN			YES	MAPKAP1,missense_variant,p.Arg494Leu,ENST00000265960,NM_001006617.1;MAPKAP1,missense_variant,p.Arg458Leu,ENST00000350766,NM_024117.3;MAPKAP1,missense_variant,p.Arg447Leu,ENST00000373511,NM_001006619.1;MAPKAP1,missense_variant,p.Arg494Leu,ENST00000373498,;MAPKAP1,missense_variant,p.Arg302Leu,ENST00000373503,NM_001006620.1;MAPKAP1,missense_variant,p.Arg302Leu,ENST00000394063,NM_001006621.1;MAPKAP1,missense_variant,p.Arg207Leu,ENST00000373497,;MAPKAP1,missense_variant,p.Arg66Leu,ENST00000444226,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000483937,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496063,;MAPKAP1,non_coding_transcript_exon_variant,,ENST00000496658,;MAPKAP1,3_prime_UTR_variant,,ENST00000497932,;					1		MODERATE	1481/1569	R494L	SIN1_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000265960		CCDS35140.1			1	
AQP11	0	LGGM	GRCh37	11	77301267	77301267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	30	4	.	.	ENST00000313578.3:c.230G>T	p.Trp77Leu	p.W77L	ENST00000313578	NM_173039.2	77	tGg/tTg	0	1	1	UPI000003B106	0	NA	ENST00000313578		ENSG00000178301	19940		34	0.69		HGNC	p.W77L		AQP11		SNV							ENST00000313578	protein_coding	getma.org/?cm=var&var=hg19,11,77301267,G,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR02024,Superfamily_domains:SSF81338,PIRSF_domain:PIRSF017529,Pfam_domain:PF00230,Gene3D:1.20.1080.10,hmmpanther:PTHR21191:SF7,hmmpanther:PTHR21191		W/L		T	neutral	588/2152		getma.org/?cm=msa&ty=f&p=AQP11_HUMAN&rb=67&re=254&var=W77L	tolerated(0.97)				YES	AQP11,missense_variant,p.Trp77Leu,ENST00000313578,NM_173039.2;AP002789.1,downstream_gene_variant,,ENST00000607263,;AQP11,intron_variant,,ENST00000528638,;CLNS1A,intron_variant,,ENST00000526761,;							MODERATE	230/816	W77L	AQP11_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000318770		CCDS8251.1			1	
KCNMA1	0	LGGM	GRCh37	10	78709050	78709050	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	4	.	.	ENST00000404857.1:c.2508C>A	p.Ala836=	p.A836=	ENST00000404857	NM_001161353.1	836	gcC/gcA	0	1		UPI00003519E7	0		ENST00000286628		ENSG00000156113	6284		42			HGNC	p.A827A		KCNMA1		SNV			1				ENST00000457953	protein_coding			hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF18,Gene3D:3.40.50.720		A		T		2559/6096				Q5SVK3_HUMAN				KCNMA1,synonymous_variant,p.=,ENST00000604624,NM_001271518.1,NM_001014797.2;KCNMA1,synonymous_variant,p.=,ENST00000286627,NM_002247.3,NM_001271519.1;KCNMA1,synonymous_variant,p.=,ENST00000286628,NM_001161352.1;KCNMA1,synonymous_variant,p.=,ENST00000372443,;KCNMA1,synonymous_variant,p.=,ENST00000372440,;KCNMA1,synonymous_variant,p.=,ENST00000404771,;KCNMA1,synonymous_variant,p.=,ENST00000457953,;KCNMA1,synonymous_variant,p.=,ENST00000372437,;KCNMA1,synonymous_variant,p.=,ENST00000372421,;KCNMA1,synonymous_variant,p.=,ENST00000406533,;KCNMA1,synonymous_variant,p.=,ENST00000354353,;KCNMA1,synonymous_variant,p.=,ENST00000404857,NM_001161353.1;KCNMA1,synonymous_variant,p.=,ENST00000372408,;KCNMA1,synonymous_variant,p.=,ENST00000372403,;KCNMA1,synonymous_variant,p.=,ENST00000434208,;RP11-443A13.5,non_coding_transcript_exon_variant,,ENST00000426234,;RP11-443A13.5,non_coding_transcript_exon_variant,,ENST00000608791,;RP11-443A13.5,intron_variant,,ENST00000600782,;RP11-443A13.5,intron_variant,,ENST00000598613,;RP11-443A13.5,intron_variant,,ENST00000458661,;							LOW	2559/3711		KCMA1_HUMAN			Transcript			.	ENSP00000286628		CCDS60569.1			1	
CDH23	0	LGGM	GRCh37	10	73472450	73472450	+	3_prime_UTR_variant	3'UTR	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	50	4	.	.	ENST00000441508.2:c.*3243C>A		*1081*	ENST00000441508	NM_001164375.2			0	1		UPI0002B831D5	0		ENST00000224721		ENSG00000107736	13733		54			HGNC	p.T600T		CDH23		SNV			1				ENST00000442677	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		T		T		3269/10085								CDH23,synonymous_variant,p.=,ENST00000224721,NM_022124.5;CDH23,synonymous_variant,p.=,ENST00000442677,;CDH23,synonymous_variant,p.=,ENST00000466757,;C10orf105,3_prime_UTR_variant,,ENST00000441508,NM_001164375.2;C10orf105,3_prime_UTR_variant,,ENST00000398786,NM_001168390.1;CDH23,non_coding_transcript_exon_variant,,ENST00000398792,;							LOW	3264/10080					Transcript			.	ENSP00000224721					1	
KIAA1549L	0	LGGM	GRCh37	11	33631498	33631498	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	58	4	.	.	ENST00000321505.4:c.4374C>A	p.Thr1458=	p.T1458=	ENST00000321505		1458	acC/acA	0	1	1	UPI0000E59322	0		ENST00000321505		ENSG00000110427	24836		62			HGNC	p.T1464T		KIAA1549L		SNV							ENST00000389726	protein_coding			Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		T		A		4554/11678							YES	KIAA1549L,synonymous_variant,p.=,ENST00000321505,;KIAA1549L,synonymous_variant,p.=,ENST00000389726,NM_012194.2;KIAA1549L,downstream_gene_variant,,ENST00000526400,;							LOW	4374/5550		K154L_HUMAN			Transcript			.	ENSP00000315295		CCDS44565.2			1	
ADC	0	LGGM	GRCh37	1	33562353	33562353	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	44	4	.	.	ENST00000294517.6:c.799G>T	p.Gly267Cys	p.G267C	ENST00000294517	NM_052998.2	267	Ggc/Tgc	0	1	1	UPI0000047152	0	getma.org/pdb.php?prot=ADC_HUMAN&from=45&to=283&var=G267C	ENST00000294517		ENSG00000142920	29957		48	2.325		HGNC	p.G109C		ADC		SNV							ENST00000373440	protein_coding	getma.org/?cm=var&var=hg19,1,33562353,G,T&fts=all		Gene3D:3.20.20.10,Pfam_domain:PF02784,hmmpanther:PTHR11482,hmmpanther:PTHR11482:SF4,Superfamily_domains:SSF50621,Superfamily_domains:SSF51419		G/C		T	medium	1386/2182		getma.org/?cm=msa&ty=f&p=ADC_HUMAN&rb=45&re=283&var=G267C	deleterious(0)	D3DPR0_HUMAN,B3KV62_HUMAN			YES	ADC,missense_variant,p.Gly267Cys,ENST00000294517,NM_052998.2;ADC,missense_variant,p.Gly267Cys,ENST00000398167,;ADC,missense_variant,p.Gly267Cys,ENST00000373443,;ADC,missense_variant,p.Gly267Cys,ENST00000373441,;ADC,missense_variant,p.Gly109Cys,ENST00000358680,;ADC,missense_variant,p.Gly109Cys,ENST00000373440,;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,;ADC,non_coding_transcript_exon_variant,,ENST00000477570,;ADC,non_coding_transcript_exon_variant,,ENST00000473089,;ADC,non_coding_transcript_exon_variant,,ENST00000492521,;ADC,downstream_gene_variant,,ENST00000492420,;ADC,downstream_gene_variant,,ENST00000462920,;ADC,downstream_gene_variant,,ENST00000497710,;ADC,downstream_gene_variant,,ENST00000478635,;ADC,downstream_gene_variant,,ENST00000483027,;ADC,downstream_gene_variant,,ENST00000497280,;							MODERATE	799/1383	G267C	ADC_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000294517		CCDS375.1			1	
SNAP47	0	LGGM	GRCh37	1	227946891	227946891	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	93	4	.	.	ENST00000366759.4:c.828C>A	p.Thr276=	p.T276=	ENST00000366759	NM_053052.3	276	acC/acA	0	1		UPI0001A336B9	0		ENST00000315781		ENSG00000143740	30669		97			HGNC	p.T276T		SNAP47		SNV							ENST00000315781	protein_coding			hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF1		T		A		1242/1755								SNAP47,synonymous_variant,p.=,ENST00000426344,;SNAP47,synonymous_variant,p.=,ENST00000366759,NM_053052.3;SNAP47,synonymous_variant,p.=,ENST00000418653,;SNAP47,synonymous_variant,p.=,ENST00000315781,;SNAP47,synonymous_variant,p.=,ENST00000366760,;SNAP47,synonymous_variant,p.=,ENST00000606873,;SNAP47,non_coding_transcript_exon_variant,,ENST00000478768,;SNAP47,non_coding_transcript_exon_variant,,ENST00000491439,;							LOW	828/1341		SNP47_HUMAN			Transcript			.	ENSP00000314157					1	
HYDIN	0	LGGM	GRCh37	16	71012828	71012828	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	44	4	.	.	ENST00000393567.2:c.4627G>T	p.Glu1543Ter	p.E1543*	ENST00000393567	NM_001270974.1	1543	Gag/Tag	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		48	0		HGNC	p.E1543X		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,71012828,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		E/*		A	NA	4778/15719		NA		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,stop_gained,p.Glu1543Ter,ENST00000393567,NM_001270974.1;HYDIN,upstream_gene_variant,,ENST00000309900,;HYDIN,upstream_gene_variant,,ENST00000543521,;							HIGH	4627/15366	E1543*	HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
DCTN1	0	LGGM	GRCh37	2	74605368	74605368	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	30	4	.	.	ENST00000361874.3:c.38C>A	p.Pro13His	p.P13H	ENST00000361874	NM_004082.4	13	cCc/cAc	0	1	1	UPI0000129A25	0	getma.org/pdb.php?prot=DCTN1_HUMAN&from=1&to=28&var=P13H	ENST00000361874		ENSG00000204843	2711		34	0.895		HGNC	p.P13H		DCTN1		SNV			1				ENST00000394003	protein_coding	getma.org/?cm=var&var=hg19,2,74605368,G,T&fts=all		Superfamily_domains:SSF74924		P/H		T	low	356/4500		getma.org/?cm=msa&ty=f&p=DCTN1_HUMAN&rb=1&re=58&var=P13H	deleterious_low_confidence(0.02)	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN			YES	DCTN1,missense_variant,p.Pro13His,ENST00000361874,NM_004082.4;DCTN1,missense_variant,p.Pro13His,ENST00000394003,NM_001190837.1;DCTN1,missense_variant,p.Pro13His,ENST00000409567,NM_001135040.2;DCTN1,missense_variant,p.Pro20His,ENST00000458655,;DCTN1,missense_variant,p.Pro17His,ENST00000417090,;DCTN1,5_prime_UTR_variant,,ENST00000409240,NM_001190836.1;DCTN1,5_prime_UTR_variant,,ENST00000409868,;DCTN1,5_prime_UTR_variant,,ENST00000454119,;DCTN1,5_prime_UTR_variant,,ENST00000437375,;DCTN1,5_prime_UTR_variant,,ENST00000413111,;DCTN1,5_prime_UTR_variant,,ENST00000449655,;DCTN1,5_prime_UTR_variant,,ENST00000421392,;DCTN1,5_prime_UTR_variant,,ENST00000440727,;DCTN1,upstream_gene_variant,,ENST00000407639,NM_023019.3;DCTN1,upstream_gene_variant,,ENST00000409438,NM_001135041.2;DCTN1,upstream_gene_variant,,ENST00000463583,;DCTN1,5_prime_UTR_variant,,ENST00000434055,;DCTN1,upstream_gene_variant,,ENST00000477966,;							MODERATE	38/3837	P13H	DCTN1_HUMAN			Transcript		benign(0.14)	.	ENSP00000354791		CCDS1939.1			1	
GATAD2B	0	LGGM	GRCh37	1	153791329	153791329	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	90	4	.	.	ENST00000368655.4:c.535C>A	p.Arg179=	p.R179=	ENST00000368655	NM_020699.2	179	Cga/Aga	0	1	1	UPI0000071E1B	0		ENST00000368655		ENSG00000143614	30778		94			HGNC	p.R179R		GATAD2B		SNV			1				ENST00000368655	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13455:SF4,hmmpanther:PTHR13455		R		T		779/7478							YES	GATAD2B,synonymous_variant,p.=,ENST00000368655,NM_020699.2;							LOW	535/1782		P66B_HUMAN			Transcript			.	ENSP00000357644		CCDS1054.1			1	
IL16	0	LGGM	GRCh37	15	81592440	81592440	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	4	.	.	ENST00000302987.4:c.2773C>A	p.Pro925Thr	p.P925T	ENST00000302987		925	Cca/Aca	0	1	1	UPI0000229CE7	0	NA	ENST00000302987		ENSG00000172349	5980		42	0.35		HGNC	p.P224T		IL16		SNV							ENST00000394652	protein_coding	getma.org/?cm=var&var=hg19,15,81592440,C,A&fts=all		hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2		P/T		A	neutral	2773/3999		getma.org/?cm=msa&ty=f&p=IL16_HUMAN&rb=861&re=959&var=P925T	tolerated(0.06)	H0YLL1_HUMAN			YES	IL16,missense_variant,p.Pro925Thr,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,missense_variant,p.Pro925Thr,ENST00000302987,;IL16,missense_variant,p.Pro879Thr,ENST00000559388,;IL16,missense_variant,p.Pro224Thr,ENST00000394652,NM_004513.5;IL16,missense_variant,p.Pro229Thr,ENST00000558332,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,downstream_gene_variant,,ENST00000560230,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000558857,;							MODERATE	2773/3999	P925T	IL16_HUMAN			Transcript		benign(0.022)	.	ENSP00000302935		CCDS42069.1			1	
SLC12A5	0	LGGM	GRCh37	20	44670033	44670033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	43	4	.	.	ENST00000454036.2:c.989G>T	p.Trp330Leu	p.W330L	ENST00000454036	NM_001134771.1	330	tGg/tTg	0	1	1	UPI00015F4605	0	NA	ENST00000454036		ENSG00000124140	13818		47	-1.1		HGNC	p.W330L		SLC12A5		SNV							ENST00000454036	protein_coding	getma.org/?cm=var&var=hg19,20,44670033,G,T&fts=all		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930		W/L		T	neutral	1038/3566		getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=125&re=332&var=W330L	tolerated(0.65)	B7Z3I0_HUMAN			YES	SLC12A5,missense_variant,p.Trp307Leu,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Trp330Leu,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608944,;SLC12A5,upstream_gene_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;							MODERATE	989/3420	W330L	S12A5_HUMAN			Transcript		benign(0)	.	ENSP00000387694		CCDS46610.1			1	
ABHD1	0	LGGM	GRCh37	2	27353590	27353590	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	23	4	.	.	ENST00000316470.4:c.1196C>A	p.Pro399His	p.P399H	ENST00000316470	NM_032604.3	399	cCt/cAt	0	1	1	UPI000013FDC4	0	NA	ENST00000316470		ENSG00000143994	17553		27	1.7		HGNC	p.P399H		ABHD1		SNV							ENST00000316470	protein_coding	getma.org/?cm=var&var=hg19,2,27353590,C,A&fts=all				P/H		A	low	1310/1400		getma.org/?cm=msa&ty=f&p=ABHD1_HUMAN&rb=366&re=405&var=P399H	deleterious_low_confidence(0.04)				YES	ABHD1,missense_variant,p.Pro399His,ENST00000316470,NM_032604.3;PREB,downstream_gene_variant,,ENST00000260643,NM_013388.4;PREB,downstream_gene_variant,,ENST00000406567,;PREB,downstream_gene_variant,,ENST00000456259,;ABHD1,downstream_gene_variant,,ENST00000416071,;PREB,downstream_gene_variant,,ENST00000430533,;PREB,downstream_gene_variant,,ENST00000416802,;ABHD1,3_prime_UTR_variant,,ENST00000448950,;ABHD1,3_prime_UTR_variant,,ENST00000420647,;PREB,downstream_gene_variant,,ENST00000468045,;PREB,downstream_gene_variant,,ENST00000444452,;PREB,downstream_gene_variant,,ENST00000474802,;ABHD1,downstream_gene_variant,,ENST00000489120,;ABHD1,downstream_gene_variant,,ENST00000496739,;PREB,downstream_gene_variant,,ENST00000441451,;							MODERATE	1196/1218	P399H	ABHD1_HUMAN			Transcript		benign(0.016)	.	ENSP00000326491		CCDS1736.1			1	
IGHV5-51	0	LGGM	GRCh37	14	107034775	107034775	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	46	4	.	.	ENST00000390626.2:c.305G>T	p.Trp102Leu	p.W102L	ENST00000390626		102	tGg/tTg	0	1	1	UPI000011AAC8	0		ENST00000390626		ENSG00000211966	5659		50			HGNC	p.W102L		IGHV5-51		SNV							ENST00000390626	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		W/L		A		364/410			tolerated(1)				YES	IGHV5-51,missense_variant,p.Trp102Leu,ENST00000390626,;IGHVIII-51-1,downstream_gene_variant,,ENST00000519403,;							MODERATE	305/351					Transcript		probably_damaging(0.951)	.	ENSP00000375035					1	
CKLF	0	LGGM	GRCh37	16	66599843	66599843	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	61	4	.	.	ENST00000264001.4:c.388C>A	p.Arg130=	p.R130=	ENST00000264001	NM_016951.3	130	Cgg/Agg	0	1	1	UPI0000036209	0		ENST00000264001		ENSG00000217555	13253		65			HGNC	p.R98R		CKLF		SNV							ENST00000345436	protein_coding			PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF36		R		A		537/669							YES	CKLF,synonymous_variant,p.=,ENST00000264001,NM_016951.3;CKLF,synonymous_variant,p.=,ENST00000345436,NM_181641.2;CKLF,synonymous_variant,p.=,ENST00000351137,NM_181640.2;CKLF,synonymous_variant,p.=,ENST00000362093,NM_016326.3;CKLF,intron_variant,,ENST00000417030,NM_001040138.2;CKLF-CMTM1,intron_variant,,ENST00000532838,;CKLF-CMTM1,intron_variant,,ENST00000527729,NM_001202509.1;CKLF-CMTM1,intron_variant,,ENST00000529718,NM_001204098.1;CMTM1,upstream_gene_variant,,ENST00000379500,NM_181268.2,NM_052999.3;CMTM1,upstream_gene_variant,,ENST00000328020,;CMTM1,upstream_gene_variant,,ENST00000533953,;CMTM1,upstream_gene_variant,,ENST00000457188,NM_181269.2;CMTM1,upstream_gene_variant,,ENST00000528324,NM_181270.2;CMTM1,upstream_gene_variant,,ENST00000332695,NM_181271.2;CMTM1,upstream_gene_variant,,ENST00000336328,NM_181272.2;CMTM1,upstream_gene_variant,,ENST00000531885,NM_181283.2;CMTM1,upstream_gene_variant,,ENST00000529506,;CMTM1,upstream_gene_variant,,ENST00000533666,NM_181296.2;CMTM1,upstream_gene_variant,,ENST00000535705,;CKLF,non_coding_transcript_exon_variant,,ENST00000563092,;CKLF,intron_variant,,ENST00000534692,;CKLF-CMTM1,intron_variant,,ENST00000527845,;CMTM1,upstream_gene_variant,,ENST00000479381,;CMTM1,upstream_gene_variant,,ENST00000528441,;CMTM1,upstream_gene_variant,,ENST00000529386,;CMTM1,upstream_gene_variant,,ENST00000533915,;CMTM1,upstream_gene_variant,,ENST00000333001,;CMTM1,upstream_gene_variant,,ENST00000530141,;CMTM1,upstream_gene_variant,,ENST00000465057,;CMTM1,upstream_gene_variant,,ENST00000534143,;CMTM1,upstream_gene_variant,,ENST00000528484,;CMTM1,upstream_gene_variant,,ENST00000533078,;							LOW	388/459		CKLF_HUMAN			Transcript			.	ENSP00000264001		CCDS10807.1			1	
SERPINB3	0	LGGM	GRCh37	18	61326659	61326659	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	65	4	.	.	ENST00000283752.5:c.325G>T	p.Gly109Ter	p.G109*	ENST00000283752	NM_006919.2	109	Gga/Tga	0	1	1	UPI0000038A19	0	NA	ENST00000283752		ENSG00000057149	10569		69	0		HGNC	p.G109X		SERPINB3		SNV							ENST00000332821	protein_coding	getma.org/?cm=var&var=hg19,18,61326659,C,A&fts=all		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		G/*		A	NA	469/1777		NA		Q9BYH9_HUMAN			YES	SERPINB3,stop_gained,p.Gly109Ter,ENST00000283752,NM_006919.2;SERPINB3,stop_gained,p.Gly109Ter,ENST00000332821,;SERPINB11,intron_variant,,ENST00000489748,;							HIGH	325/1173	G109*	SPB3_HUMAN			Transcript			.	ENSP00000283752		CCDS11987.1			1	
ARFGEF1	0	LGGM	GRCh37	8	68115432	68115432	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	95	4	.	.	ENST00000262215.3:c.5014C>A	p.Arg1672Ser	p.R1672S	ENST00000262215	NM_006421.4	1672	Cgc/Agc	0	1	1	UPI000013D275	0	NA	ENST00000262215		ENSG00000066777	15772		99	0.27		HGNC	p.R3S		ARFGEF1		SNV							ENST00000518789	protein_coding	getma.org/?cm=var&var=hg19,8,68115432,G,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137		R/S		T	neutral	5404/7225		getma.org/?cm=msa&ty=f&p=BIG1_HUMAN&rb=1505&re=1704&var=R1672S	tolerated(0.83)	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN			YES	ARFGEF1,missense_variant,p.Arg1672Ser,ENST00000262215,NM_006421.4;ARFGEF1,missense_variant,p.Arg1126Ser,ENST00000520381,;ARFGEF1,missense_variant,p.Arg510Ser,ENST00000518230,;ARFGEF1,missense_variant,p.Arg3Ser,ENST00000518789,;ARFGEF1,non_coding_transcript_exon_variant,,ENST00000522878,;ARFGEF1,upstream_gene_variant,,ENST00000517955,;ARFGEF1,upstream_gene_variant,,ENST00000518290,;							MODERATE	5014/5550	R1672S	BIG1_HUMAN			Transcript		benign(0.013)	.	ENSP00000262215		CCDS6199.1			1	
SCAF1	0	LGGM	GRCh37	19	50148631	50148631	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	31	4	.	.	ENST00000360565.3:c.129G>T	p.Val43=	p.V43=	ENST00000360565	NM_021228.2	43	gtG/gtT	0	1	1	UPI0000071891	0		ENST00000360565		ENSG00000126461	30403		35			HGNC	p.V43V		SCAF1		SNV							ENST00000360565	protein_coding			hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF2		V		T		253/4306				M0R3G4_HUMAN,M0R2L3_HUMAN			YES	SCAF1,synonymous_variant,p.=,ENST00000360565,NM_021228.2;SCAF1,synonymous_variant,p.=,ENST00000598359,;SCAF1,synonymous_variant,p.=,ENST00000601038,;SCAF1,synonymous_variant,p.=,ENST00000595242,;							LOW	129/3939		SFR19_HUMAN			Transcript			.	ENSP00000353769		CCDS33074.1			1	
XKR4	0	LGGM	GRCh37	8	56436394	56436394	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	80	4	.	.	ENST00000327381.6:c.1561G>T	p.Gly521Trp	p.G521W	ENST00000327381	NM_052898.1	521	Ggg/Tgg	0	1	1	UPI000016098C	0	NA	ENST00000327381		ENSG00000206579	29394		84	2.015		HGNC	p.G521W		XKR4		SNV							ENST00000327381	protein_coding	getma.org/?cm=var&var=hg19,8,56436394,G,T&fts=all		hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129		G/W		T	medium	1661/19880		getma.org/?cm=msa&ty=f&p=XKR4_HUMAN&rb=517&re=650&var=G521W	deleterious(0)				YES	XKR4,missense_variant,p.Gly521Trp,ENST00000327381,NM_052898.1;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;							MODERATE	1561/1953	G521W	XKR4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328326		CCDS34893.1			1	
NBPF4	0	LGGM	GRCh37	1	108769359	108769359	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	44	4	.	.	ENST00000415641.3:c.1817C>A	p.Pro606Gln	p.P606Q	ENST00000415641	NM_001143989.2	606	cCg/cAg	0	1	1	UPI000046FF97	0	NA	ENST00000415641		ENSG00000196427	26550		48	0.55		HGNC	p.P606Q		NBPF4		SNV							ENST00000370038	protein_coding	getma.org/?cm=var&var=hg19,1,108769359,G,T&fts=all		hmmpanther:PTHR14199:SF13,hmmpanther:PTHR14199		P/Q		T	neutral	2021/2485		getma.org/?cm=msa&ty=f&p=NBPF4_HUMAN&rb=523&re=638&var=P606Q	tolerated(0.23)	A4QN26_HUMAN			YES	NBPF4,missense_variant,p.Pro606Gln,ENST00000415641,NM_001143989.2;							MODERATE	1817/1917	P606Q	NBPF4_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000389237		CCDS44182.1			1	
PRODH2	0	LGGM	GRCh37	19	36297403	36297403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	4	.	.	ENST00000301175.3:c.1158G>T	p.Lys386Asn	p.K386N	ENST00000301175	NM_021232.1	386	aaG/aaT	0	1	1	UPI000006EE59	0	getma.org/pdb.php?prot=PROD2_HUMAN&from=260&to=519&var=K386N	ENST00000301175		ENSG00000250799	17325		42	2.8		HGNC	p.K386N		PRODH2		SNV							ENST00000301175	protein_coding	getma.org/?cm=var&var=hg19,19,36297403,C,A&fts=all		hmmpanther:PTHR13914:SF0,hmmpanther:PTHR13914,Gene3D:3.20.20.220,Pfam_domain:PF01619,Superfamily_domains:SSF51730		K/N		A	medium	1176/1677		getma.org/?cm=msa&ty=f&p=PROD2_HUMAN&rb=260&re=519&var=K386N	deleterious(0)				YES	PRODH2,missense_variant,p.Lys386Asn,ENST00000301175,NM_021232.1;PRODH2,missense_variant,p.Lys51Asn,ENST00000588266,;PRODH2,upstream_gene_variant,,ENST00000589835,;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,upstream_gene_variant,,ENST00000587808,;							MODERATE	1158/1611	K386N	PROD2_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000301175		CCDS12478.1			1	
CREBZF	0	LGGM	GRCh37	11	85374884	85374884	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	64	4	.	.	ENST00000527447.1:c.1036C>A	p.Arg346=	p.R346=	ENST00000527447	NM_001039618.2	346	Cgg/Agg	0	1		UPI0000405F55	0		ENST00000490820		ENSG00000137504	24905		68			HGNC	p.R346R		CREBZF		SNV							ENST00000525639	nonsense_mediated_decay			hmmpanther:PTHR14312,hmmpanther:PTHR14312:SF1		R		T		1263/4329								CREBZF,synonymous_variant,p.=,ENST00000527447,NM_001039618.2;CREBZF,synonymous_variant,p.=,ENST00000398294,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,synonymous_variant,p.=,ENST00000490820,;CREBZF,synonymous_variant,p.=,ENST00000525639,;CREBZF,synonymous_variant,p.=,ENST00000260058,;CREBZF,synonymous_variant,p.=,ENST00000527529,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528561,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528889,;							LOW	1036/1065		ZHANG_HUMAN			Transcript			.	ENSP00000434281		CCDS41697.1			1	
CXXC5	0	LGGM	GRCh37	5	139061020	139061020	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	66	4	.	.	ENST00000302517.3:c.912C>A	p.Ser304=	p.S304=	ENST00000302517	NM_016463.7	304	tcC/tcA	0	1	1	UPI000003779E	0		ENST00000302517		ENSG00000171604	26943		70			HGNC	p.S304S		CXXC5		SNV							ENST00000511048	protein_coding			hmmpanther:PTHR13419:SF2,hmmpanther:PTHR13419		S		A		1626/2658				E7EVI8_HUMAN,E7EV55_HUMAN,D6RIR8_HUMAN,D6RHG9_HUMAN,D6RHC6_HUMAN,D6RDY2_HUMAN,D6RCN9_HUMAN,D6RBE0_HUMAN,D6R9V1_HUMAN,D6R966_HUMAN			YES	CXXC5,synonymous_variant,p.=,ENST00000302517,NM_016463.7;CXXC5,synonymous_variant,p.=,ENST00000511048,;CXXC5,downstream_gene_variant,,ENST00000502716,;CXXC5,downstream_gene_variant,,ENST00000520967,;CXXC5,downstream_gene_variant,,ENST00000511457,;CXXC5,downstream_gene_variant,,ENST00000504844,;CXXC5,downstream_gene_variant,,ENST00000502336,;CXXC5,downstream_gene_variant,,ENST00000504944,;CXXC5,downstream_gene_variant,,ENST00000512816,;CXXC5,downstream_gene_variant,,ENST00000509238,;CXXC5,downstream_gene_variant,,ENST00000503511,;CXXC5,downstream_gene_variant,,ENST00000502295,;CXXC5,downstream_gene_variant,,ENST00000507139,;CXXC5,downstream_gene_variant,,ENST00000511591,;CTB-35F21.1,upstream_gene_variant,,ENST00000515296,;CXXC5,non_coding_transcript_exon_variant,,ENST00000515038,;CXXC5,upstream_gene_variant,,ENST00000505812,;							LOW	912/969		CXXC5_HUMAN			Transcript			.	ENSP00000302543		CCDS43370.1			1	
C1R	0	LGGM	GRCh37	12	7241983	7241983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	29	4	.	.	ENST00000542285.1:c.671G>T	p.Arg224Leu	p.R224L	ENST00000542285		224	cGg/cTg	0	1	1	UPI00020653A8	0		ENST00000542285		ENSG00000159403	1246		33			HGNC	p.R239L		C1R		SNV			1				ENST00000290575	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF78,SMART_domains:SM00042,Superfamily_domains:SSF49854		R/L		A		821/2112			deleterious(0)	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN			YES	C1R,missense_variant,p.Arg224Leu,ENST00000542285,;C1R,missense_variant,p.Arg225Leu,ENST00000542220,NM_001733.4;C1R,missense_variant,p.Arg239Leu,ENST00000536053,;C1R,missense_variant,p.Arg191Leu,ENST00000535233,;C1R,downstream_gene_variant,,ENST00000541042,;C1R,downstream_gene_variant,,ENST00000540242,;C1R,downstream_gene_variant,,ENST00000538050,;C1R,downstream_gene_variant,,ENST00000543835,;C1R,downstream_gene_variant,,ENST00000540610,;C1RL,downstream_gene_variant,,ENST00000545280,;C1R,upstream_gene_variant,,ENST00000602298,;C1R,3_prime_UTR_variant,,ENST00000543362,;C1R,non_coding_transcript_exon_variant,,ENST00000540394,;C1RL,downstream_gene_variant,,ENST00000539803,;C1R,downstream_gene_variant,,ENST00000536092,;C1R,downstream_gene_variant,,ENST00000545466,;C1R,downstream_gene_variant,,ENST00000543851,;							MODERATE	671/1962					Transcript		probably_damaging(1)	.	ENSP00000438615					1	
GMIP	0	LGGM	GRCh37	19	19745631	19745631	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	25	4	.	.	ENST00000203556.4:c.1857C>T	p.Val619=	p.V619=	ENST00000203556	NM_016573.2	619	gtC/gtT	0	1	1	UPI0000203862	0		ENST00000203556		ENSG00000089639	24852		29			HGNC	p.V590V		GMIP		SNV							ENST00000445806	protein_coding			PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		V		A		1995/3538				K7EQR5_HUMAN			YES	GMIP,synonymous_variant,p.=,ENST00000203556,NM_016573.2;GMIP,synonymous_variant,p.=,ENST00000445806,;GMIP,synonymous_variant,p.=,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,;							LOW	1857/2913		GMIP_HUMAN			Transcript			.	ENSP00000203556		CCDS12408.1			1	
NT5C1B	0	LGGM	GRCh37	2	18764134	18764134	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	34	4	.	.	ENST00000359846.2:c.1201G>T	p.Gly401Cys	p.G401C	ENST00000359846	NM_001199086.1	401	Ggc/Tgc	0	1	1	UPI000035B1B0	0	NA	ENST00000359846		ENSG00000185013	17818		38	3.305		HGNC	p.G343C		NT5C1B		SNV							ENST00000444297	protein_coding	getma.org/?cm=var&var=hg19,2,18764134,C,A&fts=all		Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF0		G/C		A	medium	1279/2475		getma.org/?cm=msa&ty=f&p=5NT1B_HUMAN&rb=337&re=604&var=G401C	deleterious(0)	B4DZ86_HUMAN			YES	NT5C1B,missense_variant,p.Gly341Cys,ENST00000304081,NM_033253.3;NT5C1B,missense_variant,p.Gly401Cys,ENST00000359846,NM_001199086.1,NM_001002006.2,NM_001199088.1,NM_001199087.1;NT5C1B-RDH14,missense_variant,p.Gly401Cys,ENST00000532967,NM_001199104.1;NT5C1B,missense_variant,p.Gly401Cys,ENST00000600945,;NT5C1B-RDH14,missense_variant,p.Gly343Cys,ENST00000444297,NM_001199103.1;NT5C1B,missense_variant,p.Gly56Cys,ENST00000418427,;NT5C1B,downstream_gene_variant,,ENST00000416783,;RNU6-1215P,downstream_gene_variant,,ENST00000384441,;NT5C1B,downstream_gene_variant,,ENST00000460052,;NT5C1B,splice_region_variant,,ENST00000406971,;NT5C1B,downstream_gene_variant,,ENST00000490687,;							MODERATE	1201/1833	G401C	5NT1B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000352904		CCDS33150.1			1	
ANKHD1	0	LGGM	GRCh37	5	139838405	139838405	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	49	4	.	.	ENST00000297183.6:c.1438C>A	p.Arg480=	p.R480=	ENST00000297183	NM_020690.5	480	Cgg/Agg	0	1		UPI0000074447	0		ENST00000360839		ENSG00000131503	24714		53			HGNC	p.R480R		ANKHD1		SNV							ENST00000421134	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR23206,SMART_domains:SM00248,Superfamily_domains:SSF48403		R		A		1592/8221								ANKHD1,synonymous_variant,p.=,ENST00000297183,NM_020690.5;ANKHD1-EIF4EBP3,synonymous_variant,p.=,ENST00000532219,;ANKHD1,synonymous_variant,p.=,ENST00000360839,NM_017747.2;ANKHD1,synonymous_variant,p.=,ENST00000421134,;ANKHD1,synonymous_variant,p.=,ENST00000394723,NM_024668.3,NM_001197030.1;ANKHD1,synonymous_variant,p.=,ENST00000394722,NM_017978.2;ANKHD1,upstream_gene_variant,,ENST00000246149,;ANKHD1,non_coding_transcript_exon_variant,,ENST00000490185,;							LOW	1438/7629		ANKH1_HUMAN			Transcript			.	ENSP00000354085		CCDS4225.1			1	
SH2B1	0	LGGM	GRCh37	16	28880597	28880597	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	33	4	.	.	ENST00000322610.8:c.1202G>T	p.Arg401Met	p.R401M	ENST00000322610		401	aGg/aTg	0	1	1	UPI00001AF36C	0	NA	ENST00000322610		ENSG00000178188	30417		37	0.345		HGNC	p.R401M		SH2B1		SNV			1				ENST00000322610	protein_coding	getma.org/?cm=var&var=hg19,16,28880597,G,T&fts=all		hmmpanther:PTHR10872,hmmpanther:PTHR10872:SF3		R/M		T	neutral	1641/3095		getma.org/?cm=msa&ty=f&p=SH2B1_HUMAN&rb=377&re=526&var=R401M	deleterious(0.01)	H3BVF6_HUMAN,H3BTK4_HUMAN			YES	SH2B1,splice_acceptor_variant,,ENST00000561629,;SH2B1,missense_variant,p.Arg401Met,ENST00000337120,NM_015503.2,NM_001145812.1;SH2B1,missense_variant,p.Arg401Met,ENST00000322610,;SH2B1,missense_variant,p.Arg401Met,ENST00000359285,NM_001145796.1,NM_001145795.1,NM_001145797.1;SH2B1,missense_variant,p.Arg401Met,ENST00000395532,;SH2B1,missense_variant,p.Arg65Met,ENST00000538342,;SH2B1,missense_variant,p.Arg91Met,ENST00000545570,;SH2B1,missense_variant,p.Arg88Met,ENST00000566176,;SH2B1,missense_variant,p.Arg14Met,ENST00000567536,;SH2B1,upstream_gene_variant,,ENST00000569651,;SH2B1,downstream_gene_variant,,ENST00000563591,;SH2B1,downstream_gene_variant,,ENST00000566209,;SH2B1,upstream_gene_variant,,ENST00000568868,;SH2B1,intron_variant,,ENST00000563674,;SH2B1,non_coding_transcript_exon_variant,,ENST00000569471,;							MODERATE	1202/2271	R401M	SH2B1_HUMAN			Transcript		possibly_damaging(0.695)	.	ENSP00000321221		CCDS53996.1			1	
FAM129C	0	LGGM	GRCh37	19	17653039	17653039	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	35	4	.	.	ENST00000335393.4:c.1358C>A	p.Ala453Glu	p.A453E	ENST00000335393	NM_173544.4	453	gCa/gAa	0	1	1	UPI0000246FFF	0	NA	ENST00000335393		ENSG00000167483	24130		39	1.61		HGNC	p.A453E		FAM129C		SNV							ENST00000352727	protein_coding	getma.org/?cm=var&var=hg19,19,17653039,C,A&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4		A/E		A	low	1496/2508		getma.org/?cm=msa&ty=f&p=NIBL2_HUMAN&rb=1&re=619&var=A453E	tolerated(0.26)	M0R0E0_HUMAN,B4DNU3_HUMAN			YES	FAM129C,missense_variant,p.Ala453Glu,ENST00000335393,NM_173544.4;FAM129C,missense_variant,p.Ala453Glu,ENST00000595684,;FAM129C,missense_variant,p.Ala453Glu,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Ala422Glu,ENST00000601861,;FAM129C,missense_variant,p.Ala453Glu,ENST00000352727,;FAM129C,missense_variant,p.Ala422Glu,ENST00000599164,;FAM129C,missense_variant,p.Ala179Glu,ENST00000449408,;FAM129C,missense_variant,p.Ala453Glu,ENST00000300971,;FAM129C,missense_variant,p.Ala422Glu,ENST00000599124,;FAM129C,missense_variant,p.Ala399Glu,ENST00000600871,;FAM129C,downstream_gene_variant,,ENST00000597887,;FAM129C,missense_variant,p.Ala422Glu,ENST00000600519,;FAM129C,non_coding_transcript_exon_variant,,ENST00000595601,;FAM129C,downstream_gene_variant,,ENST00000599819,;							MODERATE	1358/2094	A453E	NIBL2_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000335040		CCDS12362.1			1	
MURC	0	LGGM	GRCh37	9	103340741	103340741	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	89	4	.	.	ENST00000307584.5:c.316C>A	p.Arg106=	p.R106=	ENST00000307584	NM_001018116.2	106	Cgg/Agg	0	1	1	UPI000004CC0D	0		ENST00000307584		ENSG00000170681	33742		93			HGNC	p.R106R		MURC		SNV							ENST00000307584	protein_coding			Pfam_domain:PF15237,hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF4		R		A		381/2615							YES	MURC,synonymous_variant,p.=,ENST00000307584,NM_001018116.2;TMEFF1,downstream_gene_variant,,ENST00000374879,NM_003692.4;MSANTD3-TMEFF1,downstream_gene_variant,,ENST00000502978,NM_001198812.1;TMEFF1,downstream_gene_variant,,ENST00000334943,;RN7SKP87,downstream_gene_variant,,ENST00000364096,;							LOW	316/1095		MURC_HUMAN			Transcript			.	ENSP00000418668		CCDS35083.1			1	
CDC27	0	LGGM	GRCh37	17	45234386	45234386	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	54	4	.	.	ENST00000531206.1:c.735C>A	p.Val245=	p.V245=	ENST00000531206		245	gtC/gtA	0	1		UPI000012722D	0		ENST00000066544		ENSG00000004897	1728	0.00209	58			HGNC	p.V245V	rs752506620,COSM1130264,COSM1130263	CDC27	0.00263	SNV				0.00417		0,1,1	ENST00000066544	protein_coding			hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558		V		T		829/5801	0.00238			I0EZ72_HUMAN,I0EZ68_HUMAN				CDC27,synonymous_variant,p.=,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,synonymous_variant,p.=,ENST00000531206,;CDC27,synonymous_variant,p.=,ENST00000527547,;CDC27,synonymous_variant,p.=,ENST00000446365,;CDC27,intron_variant,,ENST00000575483,;RP5-867C24.4,downstream_gene_variant,,ENST00000574021,;CDC27,downstream_gene_variant,,ENST00000528748,;CDC27,downstream_gene_variant,,ENST00000532575,;CDC27,upstream_gene_variant,,ENST00000575830,;CDC27,synonymous_variant,p.=,ENST00000526866,;CDC27,synonymous_variant,p.=,ENST00000576484,;CDC27,3_prime_UTR_variant,,ENST00000533415,;CDC27,3_prime_UTR_variant,,ENST00000570818,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000573550,;CDC27,intron_variant,,ENST00000574304,;CDC27,downstream_gene_variant,,ENST00000532893,;RP5-867C24.1,downstream_gene_variant,,ENST00000488906,;	0.00176				0,1,1		LOW	735/2475		CDC27_HUMAN	0.000911		Transcript			common_variant	ENSP00000066544	0.00373	CCDS11509.1	0.00112		1	
AQR	0	LGGM	GRCh37	15	35210529	35210529	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	37	4	.	.	ENST00000156471.5:c.1272G>T	p.Met424Ile	p.M424I	ENST00000156471	NM_014691.2	424	atG/atT	0	1	1	UPI00001C1F85	0	NA	ENST00000156471		ENSG00000021776	29513		41	2.855		HGNC	p.M424I		AQR		SNV							ENST00000156471	protein_coding	getma.org/?cm=var&var=hg19,15,35210529,C,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901		M/I		A	medium	1498/5945		getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=1&re=791&var=M424I	deleterious(0)				YES	AQR,missense_variant,p.Met424Ile,ENST00000156471,NM_014691.2;AQR,missense_variant,p.Met424Ile,ENST00000543879,;							MODERATE	1272/4458	M424I	AQR_HUMAN			Transcript		benign(0.011)	.	ENSP00000156471		CCDS42013.1			1	
LAYN	0	LGGM	GRCh37	11	111430953	111430953	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	60	4	.	.	ENST00000375615.3:c.919C>A	p.Arg307=	p.R307=	ENST00000375615	NM_001258390.1	307	Cgg/Agg	0	1	1	UPI0000048EB1	0		ENST00000375615		ENSG00000204381	29471		64			HGNC	p.R154R		LAYN		SNV							ENST00000436913	protein_coding			hmmpanther:PTHR14789,hmmpanther:PTHR14789:SF2		R		A		1104/1836				E9PQY8_HUMAN,E9PK64_HUMAN,B4DDS5_HUMAN			YES	LAYN,synonymous_variant,p.=,ENST00000436913,NM_001258391.1;LAYN,synonymous_variant,p.=,ENST00000375614,NM_178834.4;LAYN,synonymous_variant,p.=,ENST00000375615,NM_001258390.1;LAYN,3_prime_UTR_variant,,ENST00000525126,;LAYN,3_prime_UTR_variant,,ENST00000533265,;LAYN,downstream_gene_variant,,ENST00000530962,;LAYN,downstream_gene_variant,,ENST00000528924,;LAYN,3_prime_UTR_variant,,ENST00000525866,;							LOW	919/1149		LAYN_HUMAN			Transcript			.	ENSP00000364765		CCDS58178.1			1	
ADD2	0	LGGM	GRCh37	2	70910804	70910804	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	25	4	.	.	ENST00000264436.4:c.1044C>A	p.Ala348=	p.A348=	ENST00000264436	NM_001617.3	348	gcC/gcA	0	1	1	UPI0000125503	0		ENST00000264436		ENSG00000075340	244		29			HGNC	p.A364A		ADD2		SNV							ENST00000430656	protein_coding			hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672		A		T		1489/9267				Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN			YES	ADD2,synonymous_variant,p.=,ENST00000264436,NM_001617.3;ADD2,synonymous_variant,p.=,ENST00000413157,NM_017482.3;ADD2,synonymous_variant,p.=,ENST00000407644,NM_001185054.1;ADD2,synonymous_variant,p.=,ENST00000355733,NM_017488.3;ADD2,synonymous_variant,p.=,ENST00000430656,NM_001185055.1;ADD2,intron_variant,,ENST00000456320,;ADD2,intron_variant,,ENST00000522886,;AC007395.3,upstream_gene_variant,,ENST00000457851,;ADD2,synonymous_variant,p.=,ENST00000403045,;							LOW	1044/2181		ADDB_HUMAN			Transcript			.	ENSP00000264436		CCDS1906.1			1	
KIRREL3	0	LGGM	GRCh37	11	126319041	126319041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	78	6	.	.	ENST00000525144.2:c.860G>T	p.Arg287Leu	p.R287L	ENST00000525144	NM_032531.3	287	cGg/cTg	0	1	1	UPI00000740A0	0	NA	ENST00000525144		ENSG00000149571	23204		84	0.69		HGNC	p.R287L		KIRREL3		SNV			1				ENST00000529097	protein_coding	getma.org/?cm=var&var=hg19,11,126319041,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,Superfamily_domains:SSF48726		R/L		A	neutral	1110/3808		getma.org/?cm=msa&ty=f&p=KIRR3_HUMAN&rb=249&re=331&var=R287L	deleterious(0.01)	B4DT91_HUMAN			YES	KIRREL3,missense_variant,p.Arg287Leu,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Arg287Leu,ENST00000529097,;KIRREL3,missense_variant,p.Arg287Leu,ENST00000525704,NM_001161707.1;							MODERATE	860/2337	R287L	KIRR3_HUMAN			Transcript		benign(0.134)	.	ENSP00000435466		CCDS53723.1			1	
ERCC3	0	LGGM	GRCh37	2	128029031	128029031	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	76	5	.	.	ENST00000285398.2:c.1828-2A>T		p.X610_splice	ENST00000285398	NM_000122.1			0	1	1	UPI000013900E	0		ENST00000285398		ENSG00000163161	3435		81			HGNC	-		ERCC3		SNV			1				ENST00000285398	protein_coding							A		-/2750				G3V1S1_HUMAN			YES	ERCC3,splice_acceptor_variant,,ENST00000493187,;ERCC3,splice_acceptor_variant,,ENST00000285398,NM_000122.1;ERCC3,splice_acceptor_variant,,ENST00000445889,;ERCC3,splice_acceptor_variant,,ENST00000426778,;							HIGH	1828/2349		ERCC3_HUMAN			Transcript			.	ENSP00000285398		CCDS2144.1			1	
WWP2	0	LGGM	GRCh37	16	69832659	69832659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	78	5	.	.	ENST00000359154.2:c.145C>A	p.Leu49Ile	p.L49I	ENST00000359154	NM_001270454.1	49	Ctc/Atc	0	1	1	UPI000006CD16	0	getma.org/pdb.php?prot=WWP2_HUMAN&from=20&to=100&var=L49I	ENST00000359154		ENSG00000198373	16804		83	1.61		HGNC	p.L49I		WWP2		SNV							ENST00000569620	protein_coding	getma.org/?cm=var&var=hg19,16,69832659,C,A&fts=all		Gene3D:2.60.40.150,PIRSF_domain:PIRSF001569,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF287,SMART_domains:SM00239,Superfamily_domains:SSF49562		L/I		A	low	246/4515		getma.org/?cm=msa&ty=f&p=WWP2_HUMAN&rb=20&re=100&var=L49I	tolerated(0.14)	H3BRX8_HUMAN,H3BPJ8_HUMAN,B4DHF6_HUMAN			YES	WWP2,missense_variant,p.Leu49Ile,ENST00000359154,NM_001270454.1,NM_007014.4;WWP2,missense_variant,p.Leu49Ile,ENST00000448661,;WWP2,missense_variant,p.Leu49Ile,ENST00000356003,;WWP2,missense_variant,p.Leu49Ile,ENST00000569174,NM_001270455.1;WWP2,missense_variant,p.Leu49Ile,ENST00000561780,;WWP2,missense_variant,p.Leu49Ile,ENST00000563659,;WWP2,upstream_gene_variant,,ENST00000544162,;WWP2,missense_variant,p.Leu49Ile,ENST00000569620,;WWP2,non_coding_transcript_exon_variant,,ENST00000569658,;WWP2,upstream_gene_variant,,ENST00000567986,;							MODERATE	145/2613	L49I	WWP2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000352069		CCDS10885.1			1	
ZBTB18	0	LGGM	GRCh37	1	244217499	244217499	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	54	5	.	.	ENST00000358704.4:c.423A>T	p.Glu141Asp	p.E141D	ENST00000358704	NM_205768.2	141	gaA/gaT	0	1	1	UPI000034ECE2	0	NA	ENST00000358704		ENSG00000179456	13030		59	0.805		HGNC	p.E141D		ZBTB18		SNV			1				ENST00000358704	protein_coding	getma.org/?cm=var&var=hg19,1,244217499,A,T&fts=all		hmmpanther:PTHR11389:SF358,hmmpanther:PTHR11389		E/D		T	low	572/3851		getma.org/?cm=msa&ty=f&p=ZN238_HUMAN&rb=122&re=321&var=E132D	tolerated(0.24)				YES	ZBTB18,missense_variant,p.Glu141Asp,ENST00000358704,NM_205768.2,NM_001278196.1,NM_006352.4;							MODERATE	423/1596	E132D	ZBT18_HUMAN			Transcript		benign(0.009)	.	ENSP00000351539		CCDS1622.1			1	
FAM114A2	0	LGGM	GRCh37	5	153381929	153381929	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	67	5	.	.	ENST00000351797.4:c.1138C>A	p.Arg380=	p.R380=	ENST00000351797	NM_018691.2	380	Cgg/Agg	0	1	1	UPI000013D5DA	0		ENST00000351797		ENSG00000055147	1333		72			HGNC	p.R380R		FAM114A2		SNV							ENST00000351797	protein_coding			hmmpanther:PTHR12842,hmmpanther:PTHR12842:SF3		R		T		1215/4443				E5RK42_HUMAN,E5RHP2_HUMAN,E5RHI8_HUMAN,E5RH43_HUMAN,E5RGF9_HUMAN,E5RFK2_HUMAN			YES	FAM114A2,synonymous_variant,p.=,ENST00000351797,NM_018691.2;FAM114A2,synonymous_variant,p.=,ENST00000522858,;FAM114A2,synonymous_variant,p.=,ENST00000520667,;FAM114A2,synonymous_variant,p.=,ENST00000520313,;FAM114A2,upstream_gene_variant,,ENST00000518914,;							LOW	1138/1518		F1142_HUMAN			Transcript			.	ENSP00000341597		CCDS4323.1			1	
ITGAM	0	LGGM	GRCh37	16	31332936	31332936	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	83	5	.	.	ENST00000544665.3:c.1993C>A	p.Arg665=	p.R665=	ENST00000544665	NM_001145808.1	665	Cgg/Agg	0	1		UPI00000498C2	0		ENST00000287497		ENSG00000169896	6149		88			HGNC	p.R664R		ITGAM		SNV			1				ENST00000287497	protein_coding			hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Pfam_domain:PF08441,Gene3D:1jv2A02,Superfamily_domains:SSF69179		R		A		2065/3595				B3KXM6_HUMAN				ITGAM,synonymous_variant,p.=,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,synonymous_variant,p.=,ENST00000287497,;ITGAM,intron_variant,,ENST00000567031,;ITGAM,upstream_gene_variant,,ENST00000561838,;							LOW	1990/3459		ITAM_HUMAN			Transcript			.	ENSP00000287497		CCDS45470.1			1	
HBP1	0	LGGM	GRCh37	7	106826387	106826387	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	78	5	.	.	ENST00000222574.4:c.540G>T	p.Arg180Ser	p.R180S	ENST00000222574	NM_012257.3	180	agG/agT	0	1	1	UPI000006DC04	0	NA	ENST00000222574		ENSG00000105856	23200		83	0.975		HGNC	p.R180S		HBP1		SNV							ENST00000468410	protein_coding	getma.org/?cm=var&var=hg19,7,106826387,G,T&fts=all		hmmpanther:PTHR15499,hmmpanther:PTHR15499:SF2		R/S		T	low	726/2829		getma.org/?cm=msa&ty=f&p=HBP1_HUMAN&rb=1&re=200&var=R180S	deleterious(0.01)	H7C4S2_HUMAN,C9JQU7_HUMAN,C9JPK6_HUMAN,C9JAW1_HUMAN,C9J8V6_HUMAN,C9J5U3_HUMAN,B4DJ36_HUMAN			YES	HBP1,missense_variant,p.Arg180Ser,ENST00000222574,NM_012257.3;HBP1,missense_variant,p.Arg180Ser,ENST00000468410,NM_001244262.1;HBP1,missense_variant,p.Arg180Ser,ENST00000485846,;HBP1,missense_variant,p.Arg172Ser,ENST00000498408,;HBP1,downstream_gene_variant,,ENST00000497535,;HBP1,downstream_gene_variant,,ENST00000479011,;HBP1,downstream_gene_variant,,ENST00000478930,;HBP1,downstream_gene_variant,,ENST00000464009,;HBP1,upstream_gene_variant,,ENST00000461963,;HBP1,splice_region_variant,,ENST00000463202,;HBP1,upstream_gene_variant,,ENST00000483809,;							MODERATE	540/1545	R180S	HBP1_HUMAN			Transcript		benign(0.293)	.	ENSP00000222574		CCDS5741.1			1	
DNMBP	0	LGGM	GRCh37	10	101716561	101716561	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	75	5	.	.	ENST00000324109.4:c.670G>T	p.Gly224Cys	p.G224C	ENST00000324109	NM_015221.2	224	Ggt/Tgt	0	1	1	UPI000013D6C9	0	NA	ENST00000324109		ENSG00000107554	30373		80	1.935		HGNC	p.G224C		DNMBP		SNV							ENST00000342239	protein_coding	getma.org/?cm=var&var=hg19,10,101716561,C,A&fts=all		hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19		G/C		A	medium	762/6400		getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=197&re=248&var=G224C	deleterious(0)	B4E0Q3_HUMAN			YES	DNMBP,missense_variant,p.Gly224Cys,ENST00000342239,;DNMBP,missense_variant,p.Gly224Cys,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;							MODERATE	670/4734	G224C	DNMBP_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000315659		CCDS7485.1			1	
CLDN8	0	LGGM	GRCh37	21	31587827	31587827	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	30	5	.	.	ENST00000399899.1:c.417G>T	p.Trp139Cys	p.W139C	ENST00000399899	NM_199328.2	139	tgG/tgT	0	1	1	UPI00000389FD	0	NA	ENST00000399899		ENSG00000156284	2050		35	4		HGNC	p.W139C		CLDN8		SNV							ENST00000286809	protein_coding	getma.org/?cm=var&var=hg19,21,31587827,C,A&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF00822,hmmpanther:PTHR12002:SF24,hmmpanther:PTHR12002		W/C		A	high	565/2068		getma.org/?cm=msa&ty=f&p=CLD8_HUMAN&rb=4&re=182&var=W139C	deleterious(0)				YES	CLDN8,missense_variant,p.Trp139Cys,ENST00000399899,NM_199328.2;CLDN8,missense_variant,p.Trp139Cys,ENST00000286809,;LINC00307,upstream_gene_variant,,ENST00000451410,;							MODERATE	417/678	W139C	CLD8_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000382783		CCDS13587.1			1	
MOV10	0	LGGM	GRCh37	1	113232256	113232256	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	83	5	.	.	ENST00000413052.2:c.561C>A	p.Pro187=	p.P187=	ENST00000413052	NM_001130079.1	187	ccC/ccA	0	1		UPI000012FA84	0		ENST00000357443		ENSG00000155363	7200		88			HGNC	p.P187P		MOV10		SNV							ENST00000413052	protein_coding			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326		P		A		729/3383				Q5JR04_HUMAN,B3KQ43_HUMAN				MOV10,synonymous_variant,p.=,ENST00000369644,NM_001286072.1;MOV10,synonymous_variant,p.=,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,synonymous_variant,p.=,ENST00000369645,;MOV10,synonymous_variant,p.=,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,;							LOW	561/3012		MOV10_HUMAN			Transcript			.	ENSP00000350028		CCDS853.1			1	
DUOX2	0	LGGM	GRCh37	15	45404807	45404807	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	17	5	.	.	ENST00000603300.1:c.270G>A	p.Arg90=	p.R90=	ENST00000603300	NM_014080.4	90	cgG/cgA	0	1	1	UPI000013D775	0		ENST00000603300		ENSG00000140279	13273		22			HGNC	p.R90R	rs757185360	DUOX2		SNV			1				ENST00000389039	protein_coding			Pfam_domain:PF03098,PROSITE_profiles:PS50292,Superfamily_domains:SSF48113		R		T		473/6345	1.58E-05			S6B490_HUMAN			YES	DUOX2,synonymous_variant,p.=,ENST00000389039,;DUOX2,synonymous_variant,p.=,ENST00000603300,NM_014080.4;DUOXA1,downstream_gene_variant,,ENST00000558996,NM_001276268.1;DUOXA1,downstream_gene_variant,,ENST00000267803,NM_144565.3;DUOXA1,downstream_gene_variant,,ENST00000559014,NM_001276264.1;DUOXA2,upstream_gene_variant,,ENST00000323030,NM_207581.3;DUOXA1,downstream_gene_variant,,ENST00000430224,NM_001276265.1;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOXA2,upstream_gene_variant,,ENST00000491993,;DUOXA2,upstream_gene_variant,,ENST00000350243,;							LOW	270/4647		DUOX2_HUMAN			Transcript			.	ENSP00000475084	8.25E-06	CCDS10117.1			1	
NELL2	0	LGGM	GRCh37	12	45108459	45108459	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	53	5	.	.	ENST00000437801.2:c.1210G>T	p.Gly404Ter	p.G404*	ENST00000437801	NM_001145107.1	404	Gga/Tga	0	1		UPI0000001063	0	NA	ENST00000429094		ENSG00000184613	7751		58	0		HGNC	p.G354X		NELL2		SNV							ENST00000429094	protein_coding	getma.org/?cm=var&var=hg19,12,45108459,C,A&fts=all		hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0		G/*		A	NA	1565/3612		NA		F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN				NELL2,stop_gained,p.Gly354Ter,ENST00000429094,NM_001145108.1;NELL2,stop_gained,p.Gly404Ter,ENST00000437801,NM_001145107.1;NELL2,stop_gained,p.Gly353Ter,ENST00000395487,NM_001145109.1;NELL2,stop_gained,p.Gly354Ter,ENST00000452445,NM_006159.2;NELL2,stop_gained,p.Gly353Ter,ENST00000551601,;NELL2,stop_gained,p.Gly353Ter,ENST00000549027,;NELL2,stop_gained,p.Gly377Ter,ENST00000333837,NM_001145110.1;NELL2,stop_gained,p.Gly98Ter,ENST00000550313,;NELL2,non_coding_transcript_exon_variant,,ENST00000547751,;							HIGH	1060/2451	G354*	NELL2_HUMAN			Transcript			.	ENSP00000390680		CCDS8746.1			1	
TMEM98	0	LGGM	GRCh37	17	31267843	31267843	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	82	5	.	.	ENST00000579849.1:c.513G>T	p.Leu171=	p.L171=	ENST00000579849	NM_015544.2	171	ctG/ctT	0	1		UPI00000361DE	0		ENST00000394642		ENSG00000006042	24529		87			HGNC	p.L151L		TMEM98		SNV			1				ENST00000261713	protein_coding			hmmpanther:PTHR32510,Low_complexity_(Seg):seg		L		T		895/1683				J3QS57_HUMAN,J3QLG7_HUMAN,C9J6Q8_HUMAN,C9J3Y0_HUMAN				TMEM98,synonymous_variant,p.=,ENST00000579849,NM_015544.2;TMEM98,synonymous_variant,p.=,ENST00000394642,NM_001033504.1;TMEM98,synonymous_variant,p.=,ENST00000439138,;TMEM98,synonymous_variant,p.=,ENST00000261713,;TMEM98,intron_variant,,ENST00000578289,;TMEM98,downstream_gene_variant,,ENST00000395149,;TMEM98,downstream_gene_variant,,ENST00000583120,;							LOW	513/681		TMM98_HUMAN			Transcript			.	ENSP00000378138		CCDS11274.1			1	
CCDC141	0	LGGM	GRCh37	2	179736219	179736219	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	95	5	.	.	ENST00000420890.2:c.2140G>T	p.Gly714Ter	p.G714*	ENST00000420890	NM_173648.3	714	Gga/Tga	0	1	1	UPI0000EE2F1C	0	NA	ENST00000420890		ENSG00000163492	26821		100	0		HGNC	p.G714X		CCDC141		SNV							ENST00000420890	protein_coding	getma.org/?cm=var&var=hg19,2,179736219,C,A&fts=all		hmmpanther:PTHR19897		G/*		A	NA	2258/9127		NA		H7C0P1_HUMAN,E7ERF0_HUMAN			YES	CCDC141,stop_gained,p.Gly714Ter,ENST00000420890,NM_173648.3;CCDC141,stop_gained,p.Gly158Ter,ENST00000343876,;CCDC141,stop_gained,p.Gly139Ter,ENST00000295723,;CCDC141,stop_gained,p.Gly714Ter,ENST00000443758,;CCDC141,downstream_gene_variant,,ENST00000409284,;CCDC141,downstream_gene_variant,,ENST00000446116,;							HIGH	2140/4593	G139*				Transcript			.	ENSP00000395995					1	
QSER1	0	LGGM	GRCh37	11	32956042	32956042	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	65	5	.	.	ENST00000399302.2:c.2851G>T	p.Gly951Cys	p.G951C	ENST00000399302	NM_001076786.1	951	Ggt/Tgt	0	1	1	UPI0000E467AF	0	NA	ENST00000399302		ENSG00000060749	26154		70	1.39		HGNC	p.G712C		QSER1		SNV							ENST00000527788	protein_coding	getma.org/?cm=var&var=hg19,11,32956042,G,T&fts=all		hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2		G/C		T	low	3186/9335		getma.org/?cm=msa&ty=f&p=QSER1_HUMAN&rb=801&re=1000&var=G951C	tolerated_low_confidence(0.06)	E9PQD3_HUMAN,B3KWV1_HUMAN			YES	QSER1,missense_variant,p.Gly951Cys,ENST00000399302,NM_001076786.1;QSER1,missense_variant,p.Gly712Cys,ENST00000527788,;QSER1,upstream_gene_variant,,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528155,;QSER1,downstream_gene_variant,,ENST00000527250,;							MODERATE	2851/5208	G951C	QSER1_HUMAN			Transcript		benign(0.006)	.	ENSP00000382241		CCDS41631.1			1	
DOPEY1	0	LGGM	GRCh37	6	83847724	83847724	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	85	5	.	.	ENST00000349129.2:c.3963C>A	p.Thr1321=	p.T1321=	ENST00000349129	NM_015018.3	1321	acC/acA	0	1	1	UPI00001C1574	0		ENST00000349129		ENSG00000083097	21194		90			HGNC	p.T1321T		DOPEY1		SNV							ENST00000349129	protein_coding			hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		T		A		4223/8210							YES	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,;							LOW	3963/7398		DOP1_HUMAN			Transcript			.	ENSP00000195654		CCDS4996.1			1	
HAL	0	LGGM	GRCh37	12	96370415	96370415	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	61	5	.	.	ENST00000261208.3:c.1724C>G	p.Pro575Arg	p.P575R	ENST00000261208	NM_002108.3	575	cCg/cGg	0	1	1	UPI000012CE8E	0	getma.org/pdb.php?prot=HUTH_HUMAN&from=114&to=592&var=P575R	ENST00000261208		ENSG00000084110	4806		66	1.585		HGNC	p.P575R		HAL		SNV			1				ENST00000538703	protein_coding	getma.org/?cm=var&var=hg19,12,96370415,G,C&fts=all		Superfamily_domains:SSF48557,Pfam_domain:PF00221,Gene3D:1.20.200.10,TIGRFAM_domain:TIGR01225,hmmpanther:PTHR10362,hmmpanther:PTHR10362:SF7		P/R		C	low	2093/3913		getma.org/?cm=msa&ty=f&p=HUTH_HUMAN&rb=114&re=592&var=P575R	tolerated(0.08)	Q2PH61_HUMAN,Q2PH60_HUMAN,Q2PH56_HUMAN			YES	HAL,missense_variant,p.Pro575Arg,ENST00000261208,NM_002108.3;HAL,missense_variant,p.Pro367Arg,ENST00000541929,NM_001258333.1;HAL,missense_variant,p.Pro575Arg,ENST00000538703,NM_001258334.1;HAL,missense_variant,p.Pro107Arg,ENST00000548808,;HAL,3_prime_UTR_variant,,ENST00000544080,;HAL,3_prime_UTR_variant,,ENST00000546999,;							MODERATE	1724/1974	P575R	HUTH_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261208		CCDS9058.1			1	
HERPUD1	0	LGGM	GRCh37	16	56974147	56974147	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	57	5	.	.	ENST00000439977.2:c.895G>T	p.Val299Phe	p.V299F	ENST00000439977	NM_014685.3	299	Gtt/Ttt	0	1	1	UPI0000000B03	0	NA	ENST00000439977		ENSG00000051108	13744		62	1.78		HGNC	p.V298F		HERPUD1		SNV							ENST00000300302	protein_coding	getma.org/?cm=var&var=hg19,16,56974147,G,T&fts=all		hmmpanther:PTHR12943,hmmpanther:PTHR12943:SF7		V/F		T	low	1092/1964		getma.org/?cm=msa&ty=f&p=HERP1_HUMAN&rb=290&re=391&var=V299F	deleterious(0)	Q9HBR2_HUMAN,B4E3N8_HUMAN			YES	HERPUD1,missense_variant,p.Val299Phe,ENST00000439977,NM_014685.3,NM_001272103.1,NM_001010989.2;HERPUD1,missense_variant,p.Val298Phe,ENST00000300302,;HERPUD1,missense_variant,p.Val274Phe,ENST00000379792,;HERPUD1,missense_variant,p.Val146Phe,ENST00000563911,;HERPUD1,missense_variant,p.Val58Phe,ENST00000568651,;HERPUD1,intron_variant,,ENST00000344114,;HERPUD1,intron_variant,,ENST00000568358,;HERPUD1,downstream_gene_variant,,ENST00000563343,;HERPUD1,downstream_gene_variant,,ENST00000569429,;RP11-325K4.2,upstream_gene_variant,,ENST00000570210,;RP11-325K4.3,upstream_gene_variant,,ENST00000565861,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000563781,;HERPUD1,intron_variant,,ENST00000570273,;HERPUD1,upstream_gene_variant,,ENST00000568814,;HERPUD1,non_coding_transcript_exon_variant,,ENST00000564678,;HERPUD1,downstream_gene_variant,,ENST00000569569,;HERPUD1,downstream_gene_variant,,ENST00000565966,;HERPUD1,downstream_gene_variant,,ENST00000568676,;HERPUD1,downstream_gene_variant,,ENST00000562914,;HERPUD1,downstream_gene_variant,,ENST00000566550,;HERPUD1,downstream_gene_variant,,ENST00000567944,;							MODERATE	895/1176	V299F	HERP1_HUMAN			Transcript		possibly_damaging(0.758)	.	ENSP00000409555		CCDS10771.1			1	
PTN	0	LGGM	GRCh37	7	136936137	136936137	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	112	5	.	.	ENST00000348225.2:c.291G>T	p.Ala97=	p.A97=	ENST00000348225	NM_002825.5	97	gcG/gcT	0	1	1	UPI000013297B	0		ENST00000348225		ENSG00000105894	9630		117			HGNC	p.A97A		PTN		SNV							ENST00000393083	protein_coding			Prints_domain:PR00269,SMART_domains:SM00193,Pfam_domain:PF01091,PROSITE_patterns:PS00620,hmmpanther:PTHR13850,hmmpanther:PTHR13850:SF1		A		A		719/1614							YES	PTN,splice_region_variant,p.=,ENST00000348225,NM_002825.5;PTN,splice_region_variant,p.=,ENST00000393083,;							LOW	291/507		PTN_HUMAN			Transcript			.	ENSP00000341170		CCDS5844.1			1	
SLC45A1	0	LGGM	GRCh37	1	8385424	8385424	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	21	5	.	.	ENST00000471889.1:c.464G>A	p.Arg155His	p.R155H	ENST00000471889		155	cGc/cAc	0	1		UPI000040EA42	0	NA	ENST00000289877		ENSG00000162426	17939		26	3.17		HGNC	p.R189H		SLC45A1		SNV							ENST00000377479	protein_coding	getma.org/?cm=var&var=hg19,1,8385424,G,A&fts=all		Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR19432:SF6,hmmpanther:PTHR19432		R/H		A	medium	464/2401		getma.org/?cm=msa&ty=f&p=S45A1_HUMAN&rb=87&re=372&var=R155H	deleterious(0)					SLC45A1,missense_variant,p.Arg155His,ENST00000471889,;SLC45A1,missense_variant,p.Arg189His,ENST00000377479,;SLC45A1,missense_variant,p.Arg155His,ENST00000289877,NM_001080397.1;Y_RNA,upstream_gene_variant,,ENST00000516445,;SLC45A1,upstream_gene_variant,,ENST00000497660,;							MODERATE	464/2247	R155H	S45A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000289877		CCDS30577.1			1	
TP53	0	LGGM	GRCh37	17	7577022	7577022	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	36	10	.	.	ENST00000269305.4:c.916C>T	p.Arg306Ter	p.R306*	ENST00000269305	NM_001126112.2	306	Cga/Tga	0	1	1	UPI000002ED67	0	NA	ENST00000269305	pathogenic	ENSG00000141510	11998		46	0		HGNC	p.R306X	rs121913344,TP53_g.13896C>T,COSM10663,COSM99947,COSM3388168,COSM1640820	TP53		SNV			1			1,0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577022,G,A&fts=all		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6		R/*		A	NA	1106/2579		NA		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			YES	TP53,stop_gained,p.Arg306Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg306Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg306Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg306Ter,ENST00000445888,;TP53,stop_gained,p.Arg306Ter,ENST00000359597,;TP53,stop_gained,p.Arg174Ter,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,;					0,0,1,1,1,1		HIGH	916/1182	R306*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
TMEM245	0	LGGM	GRCh37	9	111795620	111795620	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	71	6	.	.	ENST00000374586.3:c.2561C>G	p.Pro854Arg	p.P854R	ENST00000374586	NM_032012.3	854	cCa/cGa	0	1	1	UPI000013C833	0	NA	ENST00000374586		ENSG00000106771	1363		77	0.345		HGNC	p.P854R		TMEM245		SNV							ENST00000374586	protein_coding	getma.org/?cm=var&var=hg19,9,111795620,G,C&fts=all		hmmpanther:PTHR21716,hmmpanther:PTHR21716:SF1		P/R		C	neutral	2593/7980		getma.org/?cm=msa&ty=f&p=TM245_HUMAN&rb=801&re=911&var=P854R	deleterious(0.01)				YES	TMEM245,missense_variant,p.Pro854Arg,ENST00000374586,NM_032012.3;TMEM245,missense_variant,p.Pro447Arg,ENST00000413712,;TMEM245,3_prime_UTR_variant,,ENST00000491854,;TMEM245,non_coding_transcript_exon_variant,,ENST00000472207,;TMEM245,downstream_gene_variant,,ENST00000482868,;							MODERATE	2561/2640	P854R	TM245_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000363714		CCDS43858.1			1	
RAD54L2	0	LGGM	GRCh37	3	51679078	51679078	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	141	6	.	.	ENST00000409535.2:c.2489G>T	p.Arg830Leu	p.R830L	ENST00000409535	NM_015106.2	830	cGa/cTa	0	1	1	UPI000022C0AA	0	getma.org/pdb.php?prot=ARIP4_HUMAN&from=774&to=854&var=R830L	ENST00000409535		ENSG00000164080	29123		147	2.69		HGNC	p.R524L		RAD54L2		SNV							ENST00000296477	protein_coding	getma.org/?cm=var&var=hg19,3,51679078,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540		R/L		T	medium	2614/9776		getma.org/?cm=msa&ty=f&p=ARIP4_HUMAN&rb=774&re=854&var=R830L	deleterious(0)	E7EU19_HUMAN			YES	RAD54L2,missense_variant,p.Arg830Leu,ENST00000409535,NM_015106.2;RAD54L2,missense_variant,p.Arg524Leu,ENST00000296477,;RAD54L2,missense_variant,p.Arg659Leu,ENST00000432863,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;							MODERATE	2489/4404	R830L	ARIP4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000386520		CCDS33765.2			1	
GALNT15	0	LGGM	GRCh37	3	16216733	16216733	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	54	6	.	.	ENST00000339732.5:c.75C>T	p.Cys25=	p.C25=	ENST00000339732	NM_054110.4	25	tgC/tgT	0	1	1	UPI0000048F0D	0		ENST00000339732		ENSG00000131386	21531		60			HGNC	p.C25C	rs745951114	GALNT15		SNV							ENST00000437509	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM,PROSITE_profiles:PS51257,hmmpanther:PTHR11675:SF36,hmmpanther:PTHR11675		C		T		578/4669	1.50E-05			B3KT16_HUMAN			YES	GALNT15,synonymous_variant,p.=,ENST00000339732,NM_054110.4;GALNT15,synonymous_variant,p.=,ENST00000437509,;GALNT15,upstream_gene_variant,,ENST00000470031,;GALNT15,upstream_gene_variant,,ENST00000430410,;	0.000347						LOW	75/1920		GLT15_HUMAN			Transcript			.	ENSP00000344260	3.29E-05	CCDS33711.1			1	
TIPARP	0	LGGM	GRCh37	3	156411921	156411921	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	137	6	.	.	ENST00000461166.1:c.1030C>A	p.His344Asn	p.H344N	ENST00000461166	NM_001184717.1	344	Cac/Aac	0	1		UPI000004FA31	0	NA	ENST00000295924		ENSG00000163659	23696		143	1.39		HGNC	p.H344N		TIPARP		SNV							ENST00000461166	protein_coding	getma.org/?cm=var&var=hg19,3,156411921,C,A&fts=all		PROSITE_profiles:PS50918,hmmpanther:PTHR14453:SF13,hmmpanther:PTHR14453,Superfamily_domains:SSF117839		H/N		A	low	1526/4109		getma.org/?cm=msa&ty=f&p=PARPT_HUMAN&rb=229&re=447&var=H344N	tolerated(0.23)	G5E9W1_HUMAN,C9JXM5_HUMAN				TIPARP,missense_variant,p.His344Asn,ENST00000461166,NM_001184717.1;TIPARP,missense_variant,p.His344Asn,ENST00000295924,NM_015508.4;TIPARP,missense_variant,p.His344Asn,ENST00000542783,NM_001184718.1;TIPARP,missense_variant,p.His47Asn,ENST00000495891,;TIPARP,missense_variant,p.His344Asn,ENST00000486483,;TIPARP,missense_variant,p.His344Asn,ENST00000481853,;TIPARP,missense_variant,p.His344Asn,ENST00000473702,;							MODERATE	1030/1974	H344N	PARPT_HUMAN			Transcript		benign(0.001)	.	ENSP00000295924		CCDS3177.1			1	
PRPF38B	0	LGGM	GRCh37	1	109241956	109241956	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	102	6	.	.	ENST00000370025.4:c.955C>A	p.Arg319=	p.R319=	ENST00000370025	NM_018061.2	319	Cga/Aga	0	1	1	UPI000013CF13	0		ENST00000370025		ENSG00000134186	25512		108			HGNC	p.R319R		PRPF38B		SNV							ENST00000370025	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23142		R		A		1224/3693							YES	PRPF38B,synonymous_variant,p.=,ENST00000370021,;PRPF38B,synonymous_variant,p.=,ENST00000370025,NM_018061.2;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,non_coding_transcript_exon_variant,,ENST00000485810,;PRPF38B,downstream_gene_variant,,ENST00000467302,;							LOW	955/1641		PR38B_HUMAN			Transcript			.	ENSP00000359042		CCDS788.1			1	
SLITRK6	0	LGGM	GRCh37	13	86369104	86369104	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	65	6	.	.	ENST00000400286.2:c.1540C>A	p.Leu514Ile	p.L514I	ENST00000400286	NM_032229.2	514	Ctt/Att	0	1	1	UPI000004C9D6	0	getma.org/pdb.php?prot=SLIK6_HUMAN&from=459&to=518&var=L514I	ENST00000400286		ENSG00000184564	23503		71	2.24		HGNC	p.L514I		SLITRK6		SNV			1				ENST00000400286	protein_coding	getma.org/?cm=var&var=hg19,13,86369104,G,T&fts=all		Superfamily_domains:SSF52058,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373,Low_complexity_(Seg):seg		L/I		T	medium	2139/4318		getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=459&re=518&var=L514I	deleterious(0)				YES	SLITRK6,missense_variant,p.Leu514Ile,ENST00000400286,NM_032229.2;							MODERATE	1540/2526	L514I	SLIK6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383143		CCDS41903.1			1	
MYO1B	0	LGGM	GRCh37	2	192261224	192261224	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	82	7	.	.	ENST00000392318.3:c.2295+1G>T		p.X765_splice	ENST00000392318	NM_001130158.1			0	1		UPI00001A9466	0		ENST00000304164		ENSG00000128641	7596		89			HGNC	-	COSM307075	MYO1B		SNV						1	ENST00000339514	protein_coding							T		-/4933				Q14777_HUMAN,E7EQD9_HUMAN,C9K0I9_HUMAN,C9JYW1_HUMAN,C9JUP5_HUMAN,B0I1S9_HUMAN				MYO1B,splice_donor_variant,,ENST00000392318,NM_001130158.1;MYO1B,splice_donor_variant,,ENST00000339514,NM_012223.3;MYO1B,splice_donor_variant,,ENST00000304164,NM_001161819.1;MYO1B,splice_donor_variant,,ENST00000392316,;MYO1B,splice_donor_variant,,ENST00000439065,;					1		HIGH	2295/3411		MYO1B_HUMAN			Transcript			.	ENSP00000306382		CCDS46477.1			1	
AOC2	0	LGGM	GRCh37	17	40997902	40997902	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	31	7	.	.	ENST00000253799.3:c.1259C>T	p.Pro420Leu	p.P420L	ENST00000253799	NM_009590.2	420	cCa/cTa	0	1	1	UPI000013CDF4	0	getma.org/pdb.php?prot=AOC2_HUMAN&from=307&to=720&var=P420L	ENST00000253799		ENSG00000131480	549		38	2.08		HGNC	p.P420L		AOC2		SNV							ENST00000253799	protein_coding	getma.org/?cm=var&var=hg19,17,40997902,C,T&fts=all		Superfamily_domains:SSF49998,Gene3D:2.70.98.20,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4		P/L		T	medium	1286/2657		getma.org/?cm=msa&ty=f&p=AOC2_HUMAN&rb=307&re=720&var=P420L	tolerated(0.07)				YES	AOC2,missense_variant,p.Pro420Leu,ENST00000253799,NM_009590.2;AOC2,missense_variant,p.Pro420Leu,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,;							MODERATE	1259/2271	P420L	AOC2_HUMAN			Transcript		benign(0.038)	.	ENSP00000253799		CCDS11443.1			1	
RORC	0	LGGM	GRCh37	1	151780014	151780014	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	23	7	.	.	ENST00000318247.6:c.1491T>G	p.Ala497=	p.A497=	ENST00000318247	NM_005060.3	497	gcT/gcG	0	1	1	UPI000006FBD8	0		ENST00000318247		ENSG00000143365	10260		30			HGNC	p.A497A		RORC		SNV							ENST00000318247	protein_coding			Gene3D:1.10.565.10,Prints_domain:PR01293,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF196,Superfamily_domains:SSF48508		A		C		1599/2180				Q6I9R9_HUMAN,D3DV25_HUMAN,B6ZGS6_HUMAN			YES	RORC,synonymous_variant,p.=,ENST00000356728,NM_001001523.1;RORC,synonymous_variant,p.=,ENST00000392697,;RORC,synonymous_variant,p.=,ENST00000318247,NM_005060.3;LINGO4,upstream_gene_variant,,ENST00000368820,NM_001004432.2;RORC,non_coding_transcript_exon_variant,,ENST00000480719,;							LOW	1491/1557		RORG_HUMAN			Transcript			.	ENSP00000327025		CCDS1004.1			1	
NOXO1	0	LGGM	GRCh37	16	2031115	2031115	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	36	7	.	.	ENST00000397280.4:c.66A>C	p.Gln22His	p.Q22H	ENST00000397280		22	caA/caC	0	1	1	UPI000006E194	0	getma.org/pdb.php?prot=NOXO1_HUMAN&from=8&to=127&var=Q22H	ENST00000397280		ENSG00000196408	19404		43	2.42		HGNC	p.Q22H		NOXO1		SNV							ENST00000356120	protein_coding	getma.org/?cm=var&var=hg19,16,2031115,T,G&fts=all		PROSITE_profiles:PS50195,hmmpanther:PTHR15706:SF1,hmmpanther:PTHR15706,Pfam_domain:PF00787,Gene3D:3.30.1520.10,Superfamily_domains:SSF64268		Q/H		G	medium	70/1147		getma.org/?cm=msa&ty=f&p=NOXO1_HUMAN&rb=8&re=127&var=Q22H	deleterious(0)				YES	NOXO1,missense_variant,p.Gln22His,ENST00000354249,NM_172168.2,NM_001267721.1,NM_172167.2,NM_144603.3;NOXO1,missense_variant,p.Gln22His,ENST00000356120,;NOXO1,missense_variant,p.Gln22His,ENST00000397280,;NOXO1,missense_variant,p.Gln22His,ENST00000566005,;NOXO1,missense_variant,p.Gln22His,ENST00000567471,;TBL3,3_prime_UTR_variant,,ENST00000568546,NM_006453.2;GFER,upstream_gene_variant,,ENST00000248114,NM_005262.2;TBL3,downstream_gene_variant,,ENST00000332704,;AC005606.1,upstream_gene_variant,,ENST00000598236,;GFER,upstream_gene_variant,,ENST00000569451,;GFER,upstream_gene_variant,,ENST00000567719,;GFER,upstream_gene_variant,,ENST00000561710,;AC005606.14,downstream_gene_variant,,ENST00000564438,;NOXO1,splice_region_variant,,ENST00000563181,;TBL3,downstream_gene_variant,,ENST00000569628,;GFER,upstream_gene_variant,,ENST00000565658,;TBL3,downstream_gene_variant,,ENST00000567615,;TBL3,downstream_gene_variant,,ENST00000564171,;TBL3,downstream_gene_variant,,ENST00000569792,;NOXO1,upstream_gene_variant,,ENST00000569739,;							MODERATE	66/1131	Q22H	NOXO1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380450		CCDS42101.1			1	
FIGNL1	0	LGGM	GRCh37	7	50514575	50514575	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	96	7	.	.	ENST00000419119.1:c.411G>T	p.Val137=	p.V137=	ENST00000419119		137	gtG/gtT	0	1		UPI000013CE5D	0		ENST00000356889		ENSG00000132436	13286		103			HGNC	p.V137V		FIGNL1		SNV							ENST00000395556	protein_coding			hmmpanther:PTHR23074:SF75,hmmpanther:PTHR23074		V		A		722/3466				C9JTG6_HUMAN,C9JTB2_HUMAN,C9JP37_HUMAN,C9JKI6_HUMAN,C9JHJ4_HUMAN				FIGNL1,synonymous_variant,p.=,ENST00000419119,;FIGNL1,synonymous_variant,p.=,ENST00000433017,NM_001287492.1;FIGNL1,synonymous_variant,p.=,ENST00000395556,NM_022116.3,NM_001042762.1,NM_001287495.1,NM_001287494.1,NM_001287493.1;FIGNL1,synonymous_variant,p.=,ENST00000356889,NM_001287495.1,NM_001287494.1;FIGNL1,3_prime_UTR_variant,,ENST00000435566,;FIGNL1,downstream_gene_variant,,ENST00000440350,;FIGNL1,downstream_gene_variant,,ENST00000422854,;FIGNL1,downstream_gene_variant,,ENST00000420829,;FIGNL1,downstream_gene_variant,,ENST00000448788,;FIGNL1,downstream_gene_variant,,ENST00000436590,;							LOW	411/2025		FIGL1_HUMAN			Transcript			.	ENSP00000349356		CCDS5510.1			1	
EIF4G1	0	LGGM	GRCh37	3	184049551	184049551	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	91	7	.	.	ENST00000424196.1:c.4452G>T	p.Thr1484=	p.T1484=	ENST00000424196		1484	acG/acT	0	1		UPI00003671E5	0		ENST00000346169		ENSG00000114867	3296		98			HGNC	p.T1484T		EIF4G1		SNV			1				ENST00000424196	protein_coding			Gene3D:1.25.40.180,PROSITE_profiles:PS51363,hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF10,Superfamily_domains:SSF48371		T		T		4702/5516				Q96I65_HUMAN,C9JWW9_HUMAN,C9JWH7_HUMAN,C9JSU8_HUMAN,C9JIH5_HUMAN,C9J987_HUMAN,C9J6B6_HUMAN,C9J556_HUMAN				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,;EIF2B5,intron_variant,,ENST00000444495,;FAM131A,upstream_gene_variant,,ENST00000340957,NM_001171093.1;FAM131A,upstream_gene_variant,,ENST00000418281,;FAM131A,upstream_gene_variant,,ENST00000450976,;EIF4G1,downstream_gene_variant,,ENST00000448284,;FAM131A,upstream_gene_variant,,ENST00000433578,;EIF4G1,3_prime_UTR_variant,,ENST00000442406,;EIF4G1,3_prime_UTR_variant,,ENST00000422614,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000460829,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000475721,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000464548,;EIF4G1,non_coding_transcript_exon_variant,,ENST00000478291,;EIF4G1,downstream_gene_variant,,ENST00000466311,;EIF4G1,downstream_gene_variant,,ENST00000482303,;							LOW	4431/4800		IF4G1_HUMAN			Transcript			.	ENSP00000316879		CCDS3259.1			1	
DNAH14	0	LGGM	GRCh37	1	225332304	225332304	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	77	8	.	.	ENST00000328556.5:c.1948A>C	p.Thr650Pro	p.T650P	ENST00000328556		650	Act/Cct	0	1		UPI0001642868	0	getma.org/pdb.php?prot=DYH14_HUMAN&from=1126&to=1193&var=T1171P	ENST00000445597		ENSG00000185842	2945		85	3.355		HGNC	p.T1171P		DNAH14		SNV							ENST00000445597	protein_coding	getma.org/?cm=var&var=hg19,1,225332304,A,C&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676:SF132,hmmpanther:PTHR10676		T/P		C	medium	3511/10524		getma.org/?cm=msa&ty=f&p=DYH14_HUMAN&rb=1126&re=1193&var=T1171P	deleterious(0)	C9JU64_HUMAN				DNAH14,missense_variant,p.Thr1555Pro,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Thr1555Pro,ENST00000439375,;DNAH14,missense_variant,p.Thr1171Pro,ENST00000445597,;DNAH14,missense_variant,p.Thr650Pro,ENST00000328556,;DNAH14,3_prime_UTR_variant,,ENST00000495456,;							MODERATE	3511/10524	T1171P	DYH14_HUMAN			Transcript		benign(0.004)	.	ENSP00000409472					1	
CAB39	0	LGGM	GRCh37	2	231683410	231683410	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	8	.	.	ENST00000258418.5:c.1017A>T	p.Gln339His	p.Q339H	ENST00000258418	NM_016289.3	339	caA/caT	0	1	1	UPI000003622D	0	getma.org/pdb.php?prot=CAB39_HUMAN&from=336&to=341&var=Q339H	ENST00000258418		ENSG00000135932	20292		46	0		HGNC	p.Q339H		CAB39		SNV							ENST00000409788	protein_coding	getma.org/?cm=var&var=hg19,2,231683410,A,T&fts=all		hmmpanther:PTHR10182,hmmpanther:PTHR10182:SF11		Q/H		T	neutral	1446/3826		getma.org/?cm=msa&ty=f&p=CAB39_HUMAN&rb=306&re=341&var=Q339H	tolerated_low_confidence(0.1)	Q53RN7_HUMAN,A8K8L7_HUMAN			YES	CAB39,missense_variant,p.Gln339His,ENST00000258418,NM_016289.3;CAB39,missense_variant,p.Gln339His,ENST00000409788,NM_001130849.1;CAB39,missense_variant,p.Gln339His,ENST00000410084,NM_001130850.1;CAB39,downstream_gene_variant,,ENST00000493540,;							MODERATE	1017/1026	Q339H	CAB39_HUMAN			Transcript		benign(0.075)	.	ENSP00000258418		CCDS2478.1			1	
FPGT-TNNI3K	0	LGGM	GRCh37	1	74930418	74930418	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	159	8	.	.	ENST00000370891.2:c.2424+1184A>G		*808*	ENST00000370891	NM_001112808.2			0	1	1	UPI0001EECC26	0		ENST00000557284		ENSG00000259030	42952		167			HGNC	p.R842G		FPGT-TNNI3K		SNV							ENST00000370899	protein_coding							G		-/2855				A6NHC7_HUMAN			YES	FPGT-TNNI3K,missense_variant,p.Arg842Gly,ENST00000370899,NM_001199327.1;TNNI3K,intron_variant,,ENST00000370891,NM_001112808.2;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,;RP4-650F12.2,upstream_gene_variant,,ENST00000442876,;RP4-650F12.2,upstream_gene_variant,,ENST00000411417,;TNNI3K,downstream_gene_variant,,ENST00000370889,;							MODIFIER	-/2850					Transcript			.	ENSP00000450895		CCDS44161.2			1	
KDM5B	0	LGGM	GRCh37	1	202729545	202729545	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	74	9	.	.	ENST00000367265.3:c.1075C>A	p.Gln359Lys	p.Q359K	ENST00000367265	NM_006618.3	359	Cag/Aag	0	1	1	UPI0000032AA2	0	getma.org/pdb.php?prot=KDM5B_HUMAN&from=311&to=359&var=Q359K	ENST00000367265		ENSG00000117139	18039		83	0.9		HGNC	p.Q359K		KDM5B		SNV							ENST00000367265	protein_coding	getma.org/?cm=var&var=hg19,1,202729545,G,T&fts=all		Gene3D:3.30.40.10,PROSITE_profiles:PS50016,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3,Superfamily_domains:SSF57903		Q/K		T	low	2240/7438		getma.org/?cm=msa&ty=f&p=KDM5B_HUMAN&rb=311&re=359&var=Q359K	tolerated(0.07)	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN			YES	KDM5B,missense_variant,p.Gln359Lys,ENST00000367265,NM_006618.3;KDM5B,missense_variant,p.Gln395Lys,ENST00000367264,;KDM5B,missense_variant,p.Gln201Lys,ENST00000235790,;KDM5B,upstream_gene_variant,,ENST00000456180,;							MODERATE	1075/4635	Q359K	KDM5B_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000356234		CCDS30974.1			1	
MUC16	0	LGGM	GRCh37	19	9076332	9076332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	102	9	.	.	ENST00000397910.4:c.11114T>C	p.Val3705Ala	p.V3705A	ENST00000397910	NM_024690.2	3705	gTg/gCg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		111	0		HGNC	p.V3705A		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9076332,A,G&fts=all				V/A		G	neutral	11318/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=V3706A		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Val3705Ala,ENST00000397910,NM_024690.2;							MODERATE	11114/43524	V3706A				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
LRRC3B	0	LGGM	GRCh37	3	26751193	26751193	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	57	10	.	.	ENST00000396641.2:c.30T>C	p.Arg10=	p.R10=	ENST00000396641	NM_052953.2	10	cgT/cgC	0	1	1	UPI000000D990	0		ENST00000396641		ENSG00000179796	28105		67			HGNC	p.R10R		LRRC3B		SNV							ENST00000456208	protein_coding			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF134,Cleavage_site_(Signalp):SignalP-noTM		R		C		622/1696				C9JMC7_HUMAN,C9J6A1_HUMAN			YES	LRRC3B,synonymous_variant,p.=,ENST00000396641,NM_052953.2;LRRC3B,synonymous_variant,p.=,ENST00000417744,;LRRC3B,synonymous_variant,p.=,ENST00000456208,;LRRC3B,synonymous_variant,p.=,ENST00000432040,;LRRC3B,synonymous_variant,p.=,ENST00000414619,;AC114877.3,upstream_gene_variant,,ENST00000446601,;LRRC3B,downstream_gene_variant,,ENST00000469437,;							LOW	30/780		LRC3B_HUMAN			Transcript			.	ENSP00000379880		CCDS2644.1			1	
KRT15	0	LGGM	GRCh37	17	39673186	39673186	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	64	10	.	.	ENST00000254043.3:c.612C>T	p.Gly204=	p.G204=	ENST00000254043	NM_002275.3	204	ggC/ggT	0	1	1	UPI000013CE0E	0		ENST00000254043		ENSG00000171346	6421		74			HGNC	p.A67V	rs577866815	KRT15	6.06E-05	SNV				9.61E-05			ENST00000497016	protein_coding		A:0.0008	hmmpanther:PTHR23239:SF164,hmmpanther:PTHR23239,Pfam_domain:PF00038		G		A		4198/5237					A:0	A:0	YES	KRT15,synonymous_variant,p.=,ENST00000254043,NM_002275.3;KRT15,synonymous_variant,p.=,ENST00000393974,;KRT15,synonymous_variant,p.=,ENST00000393981,;KRT15,synonymous_variant,p.=,ENST00000393976,;KRT15,synonymous_variant,p.=,ENST00000458290,;KRT15,missense_variant,p.Ala67Val,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,;		A:0.0004					LOW	612/1371		K1C15_HUMAN		A:0	Transcript			.	ENSP00000254043	1.65E-05	CCDS11398.1		A:0.001	1	
UNC5C	0	LGGM	GRCh37	4	96141272	96141272	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	31	10	.	.	ENST00000453304.1:c.1164C>A	p.Ile388=	p.I388=	ENST00000453304	NM_003728.3	388	atC/atA	0	1	1	UPI000004E6A5	0		ENST00000453304		ENSG00000182168	12569		41			HGNC	p.I407I		UNC5C		SNV							ENST00000506749	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7		I		T		1513/9875				Q4W5H4_HUMAN			YES	UNC5C,synonymous_variant,p.=,ENST00000453304,NM_003728.3;UNC5C,synonymous_variant,p.=,ENST00000513796,;UNC5C,synonymous_variant,p.=,ENST00000506749,;							LOW	1164/2796		UNC5C_HUMAN			Transcript			.	ENSP00000406022		CCDS3643.1			1	
HMCN1	0	LGGM	GRCh37	1	185984465	185984465	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	75	10	.	.	ENST00000271588.4:c.4805A>T	p.Tyr1602Phe	p.Y1602F	ENST00000271588	NM_031935.2	1602	tAt/tTt	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=1551&to=1635&var=Y1602F	ENST00000271588		ENSG00000143341	19194		85	-0.205		HGNC	p.Y1602F		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185984465,A,T&fts=all		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		Y/F		T	neutral	5034/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=1551&re=1635&var=Y1602F					YES	HMCN1,missense_variant,p.Tyr1602Phe,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Tyr1602Phe,ENST00000367492,;							MODERATE	4805/16908	Y1602F	HMCN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000271588		CCDS30956.1			1	
CSNK2A1	0	LGGM	GRCh37	20	470507	470507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	38	11	.	.	ENST00000217244.3:c.640G>T	p.Asp214Tyr	p.D214Y	ENST00000217244	NM_177559.2	214	Gat/Tat	0	1	1	UPI0000000CB5	0	getma.org/pdb.php?prot=CSK21_HUMAN&from=39&to=324&var=D214Y	ENST00000217244		ENSG00000101266	2457		49	4.77		HGNC	p.D214Y	COSM3799624	CSNK2A1		SNV						1	ENST00000217244	protein_coding	getma.org/?cm=var&var=hg19,20,470507,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/Y		A	high	1016/4416		getma.org/?cm=msa&ty=f&p=CSK21_HUMAN&rb=39&re=324&var=D214Y	deleterious(0)				YES	CSNK2A1,missense_variant,p.Asp214Tyr,ENST00000217244,NM_177559.2;CSNK2A1,missense_variant,p.Asp214Tyr,ENST00000349736,NM_001895.3;CSNK2A1,missense_variant,p.Asp214Tyr,ENST00000400227,;CSNK2A1,missense_variant,p.Asp78Tyr,ENST00000400217,NM_177560.2;					1		MODERATE	640/1176	D214Y	CSK21_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000217244		CCDS13003.1			1	
SPOCK1	0	LGGM	GRCh37	5	136320870	136320870	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	79	11	.	.	ENST00000394945.1:c.950T>A	p.Met317Lys	p.M317K	ENST00000394945	NM_004598.3	317	aTg/aAg	0	1	1	UPI0000136F50	0	getma.org/pdb.php?prot=TICN1_HUMAN&from=313&to=376&var=M317K	ENST00000394945		ENSG00000152377	11251		90	0.995		HGNC	p.M317K	rs757831403	SPOCK1		SNV							ENST00000282223	protein_coding	getma.org/?cm=var&var=hg19,5,136320870,A,T&fts=all		PROSITE_profiles:PS51162,hmmpanther:PTHR12036:SF18,hmmpanther:PTHR12036,Pfam_domain:PF00086,Gene3D:1.10.238.10,Superfamily_domains:SSF57610		M/K		T	low	1120/4846		getma.org/?cm=msa&ty=f&p=TICN1_HUMAN&rb=313&re=376&var=M317K	tolerated(0.1)	D6RB21_HUMAN,D6RAM7_HUMAN,D3DQB3_HUMAN			YES	SPOCK1,missense_variant,p.Met317Lys,ENST00000394945,NM_004598.3;SPOCK1,missense_variant,p.Met317Lys,ENST00000282223,;SPOCK1,non_coding_transcript_exon_variant,,ENST00000509978,;SPOCK1,downstream_gene_variant,,ENST00000508642,;	0.000231						MODERATE	950/1320	M317K	TICN1_HUMAN			Transcript		benign(0.012)	.	ENSP00000378401	1.65E-05	CCDS4191.1			1	
CHL1	0	LGGM	GRCh37	3	436390	436390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	48	11	.	.	ENST00000256509.2:c.2929G>A	p.Glu977Lys	p.E977K	ENST00000256509	NM_001253388.1	977	Gag/Aag	0	1		UPI0000E08093	0	getma.org/pdb.php?prot=CHL1_HUMAN&from=917&to=1005&var=E961K	ENST00000397491		ENSG00000134121	1939		59	2.155		HGNC	p.E961K		CHL1		SNV			1				ENST00000397491	protein_coding	getma.org/?cm=var&var=hg19,3,436390,G,A&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,PROSITE_profiles:PS50853		E/K		A	medium	3348/5235		getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=917&re=1005&var=E961K	deleterious(0)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN				CHL1,missense_variant,p.Glu977Lys,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Glu961Lys,ENST00000397491,;CHL1,missense_variant,p.Glu164Lys,ENST00000445697,;CHL1,3_prime_UTR_variant,,ENST00000453040,;							MODERATE	2881/3627	E961K	CHL1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000380628		CCDS58812.1			1	
MROH8	0	LGGM	GRCh37	20	35752010	35752010	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	67	12	.	.	ENST00000343811.4:c.2056+2T>G		p.X686_splice	ENST00000343811	NM_152503.4			0	1	1	UPI0000E5A31D	0		ENST00000343811		ENSG00000101353	16125		79			HGNC	-		MROH8		SNV							ENST00000343811	protein_coding							C		-/3425				Q5JYR0_HUMAN,Q5JYQ9_HUMAN			YES	MROH8,splice_donor_variant,,ENST00000343811,NM_152503.4;MROH8,splice_donor_variant,,ENST00000400441,;MROH8,splice_donor_variant,,ENST00000441008,;MROH8,splice_donor_variant,,ENST00000217333,;MROH8,splice_donor_variant,,ENST00000417458,;							HIGH	2056/3210					Transcript			.	ENSP00000339971					1	
GPRASP3	0	LGGM	GRCh37	X	102004998	102004998	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	19	12	.	.	ENST00000372735.1:c.1075G>A	p.Glu359Lys	p.E359K	ENST00000372735		359	Gag/Aag	0	1		UPI00001C1D50	0	NA	ENST00000361229		ENSG00000198908	29353		31	1.04		HGNC	p.E359K		BHLHB9		SNV							ENST00000361229	protein_coding	getma.org/?cm=var&var=hg19,X,102004998,G,A&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF18,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371		E/K		A	low	1603/3974		getma.org/?cm=msa&ty=f&p=BHLH9_HUMAN&rb=312&re=547&var=E359K	deleterious(0.01)					BHLHB9,missense_variant,p.Glu359Lys,ENST00000372735,;BHLHB9,missense_variant,p.Glu359Lys,ENST00000457056,NM_001142527.1,NM_001142526.1,NM_001142525.1,NM_001142528.1,NM_001142524.1;BHLHB9,missense_variant,p.Glu359Lys,ENST00000447531,NM_001142529.1;BHLHB9,missense_variant,p.Glu359Lys,ENST00000361229,NM_030639.2;BHLHB9,missense_variant,p.Glu359Lys,ENST00000448867,NM_001142530.1;BHLHB9,downstream_gene_variant,,ENST00000483294,;BHLHB9,downstream_gene_variant,,ENST00000486988,;							MODERATE	1075/1644	E359K	BHLH9_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000354675		CCDS14502.1			1	
FAM92A1	0	LGGM	GRCh37	8	94740525	94740525	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	114	12	.	.	ENST00000518322.1:c.870A>T	p.Ter290TyrextTer10	p.*290Yext*10	ENST00000518322	NM_145269.3	290	taA/taT	0	1	1	UPI000156FA8B	0		ENST00000518322		ENSG00000188343	30452		126			HGNC	p.X135Y		FAM92A1		SNV							ENST00000517718	protein_coding					*/Y		T		1011/4241				E5RID3_HUMAN,E5RHA4_HUMAN,E5RGE3_HUMAN,E5RFS7_HUMAN,E5RFH7_HUMAN			YES	FAM92A1,stop_lost,p.Ter290TyrextTer10,ENST00000518322,NM_145269.3;FAM92A1,stop_lost,p.Ter252TyrextTer10,ENST00000423990,NM_001283034.1;FAM92A1,stop_lost,p.Ter135TyrextTer10,ENST00000517718,;FAM92A1,stop_lost,p.Ter135TyrextTer10,ENST00000521641,;RBM12B,downstream_gene_variant,,ENST00000399300,NM_203390.2;RBM12B,downstream_gene_variant,,ENST00000517700,;FAM92A1,downstream_gene_variant,,ENST00000519679,;RP11-10N23.4,upstream_gene_variant,,ENST00000517998,;FAM92A1,non_coding_transcript_exon_variant,,ENST00000520363,;RBM12B,downstream_gene_variant,,ENST00000520961,;FAM92A1,3_prime_UTR_variant,,ENST00000518116,;FAM92A1,3_prime_UTR_variant,,ENST00000452913,;FAM92A1,3_prime_UTR_variant,,ENST00000359421,;FAM92A1,non_coding_transcript_exon_variant,,ENST00000523577,;							HIGH	870/870		F92A1_HUMAN			Transcript			.	ENSP00000429367		CCDS47892.1			1	
PABPC4	0	LGGM	GRCh37	1	40030204	40030204	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	49	12	.	.	ENST00000372858.3:c.1344A>C	p.Gly448=	p.G448=	ENST00000372858	NM_001135653.1	448	ggA/ggC	0	1		UPI00001311AD	0		ENST00000372857		ENSG00000090621	8557		61			HGNC	p.G448G		PABPC4		SNV							ENST00000372862	protein_coding			hmmpanther:PTHR24011:SF265,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628		G		G		2137/3048				B1ANR1_HUMAN				PABPC4,synonymous_variant,p.=,ENST00000372857,NM_003819.3;PABPC4,synonymous_variant,p.=,ENST00000372856,NM_001135654.1;PABPC4,synonymous_variant,p.=,ENST00000372858,NM_001135653.1;PABPC4,synonymous_variant,p.=,ENST00000372862,;PABPC4,synonymous_variant,p.=,ENST00000421687,;PABPC4,synonymous_variant,p.=,ENST00000527718,;PABPC4,upstream_gene_variant,,ENST00000437136,;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,,ENST00000525045,;PABPC4,non_coding_transcript_exon_variant,,ENST00000525669,;PABPC4,non_coding_transcript_exon_variant,,ENST00000483770,;PABPC4,non_coding_transcript_exon_variant,,ENST00000461578,;PABPC4,upstream_gene_variant,,ENST00000468476,;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,;PABPC4,upstream_gene_variant,,ENST00000477556,;PABPC4,downstream_gene_variant,,ENST00000492519,;							LOW	1344/1935		PABP4_HUMAN			Transcript			.	ENSP00000361948		CCDS438.1			1	
KRTAP1-5	0	LGGM	GRCh37	17	39183261	39183261	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	42	13	.	.	ENST00000361883.5:c.147C>G	p.Ser49Arg	p.S49R	ENST00000361883	NM_031957.1	49	agC/agG	0	1	1	UPI00000707CB	0	NA	ENST00000361883		ENSG00000221852	16777		55	2.36		HGNC	p.S49R		KRTAP1-5		SNV							ENST00000361883	protein_coding	getma.org/?cm=var&var=hg19,17,39183261,G,C&fts=all		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF9,Low_complexity_(Seg):seg		S/R		C	medium	194/1177		getma.org/?cm=msa&ty=f&p=KRA15_HUMAN&rb=38&re=83&var=S49R	deleterious(0.01)				YES	KRTAP1-5,missense_variant,p.Ser49Arg,ENST00000361883,NM_031957.1;KRTAP1-4,downstream_gene_variant,,ENST00000377747,NM_001257305.1;							MODERATE	147/525	S49R	KRA15_HUMAN			Transcript		unknown(0)	.	ENSP00000355302		CCDS42321.1			1	
CTC1	0	LGGM	GRCh37	17	8141792	8141792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	48	14	.	.	ENST00000315684.8:c.353C>T	p.Thr118Ile	p.T118I	ENST00000315684	NM_025099.5	118	aCa/aTa	0	1	1	UPI000041A9A9	0	NA	ENST00000315684		ENSG00000178971	26169		62	1.87		HGNC	p.T118I		CTC1		SNV			1				ENST00000449476	protein_coding	getma.org/?cm=var&var=hg19,17,8141792,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14865,Pfam_domain:PF15489		T/I		A	low	361/4024		getma.org/?cm=msa&ty=f&p=CTC1_HUMAN&rb=12&re=1215&var=T118I	deleterious(0.03)				YES	CTC1,missense_variant,p.Thr118Ile,ENST00000315684,NM_025099.5;CTC1,non_coding_transcript_exon_variant,,ENST00000581671,;CTC1,missense_variant,p.Thr118Ile,ENST00000449476,;CTC1,non_coding_transcript_exon_variant,,ENST00000584842,;CTC1,upstream_gene_variant,,ENST00000581967,;CTC1,upstream_gene_variant,,ENST00000579066,;CTC1,upstream_gene_variant,,ENST00000583254,;							MODERATE	353/3654	T118I	CTC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000313759		CCDS42259.1			1	
PGPEP1L	0	LGGM	GRCh37	15	99512787	99512787	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	67	14	.	.	ENST00000378919.6:c.238A>G	p.Ser80Gly	p.S80G	ENST00000378919	NM_001102612.2	80	Agc/Ggc	0	1	1	UPI00006C1572	0	getma.org/pdb.php?prot=PGPIL_HUMAN&from=5&to=155&var=S80G	ENST00000378919		ENSG00000183571	27080		81	-2.16		HGNC	p.S26G		PGPEP1L		SNV							ENST00000535714	protein_coding	getma.org/?cm=var&var=hg19,15,99512787,T,C&fts=all		hmmpanther:PTHR23402:SF14,hmmpanther:PTHR23402,Pfam_domain:PF01470,Gene3D:3.40.630.20,Superfamily_domains:SSF53182		S/G		C	neutral	444/995		getma.org/?cm=msa&ty=f&p=PGPIL_HUMAN&rb=5&re=155&var=S80G	tolerated(1)	H0YF86_HUMAN			YES	PGPEP1L,missense_variant,p.Ser26Gly,ENST00000535714,NM_001167902.1;PGPEP1L,missense_variant,p.Ser80Gly,ENST00000378919,NM_001102612.2;RP11-654A16.3,intron_variant,,ENST00000559468,;							MODERATE	238/591	S80G	PGPIL_HUMAN			Transcript		benign(0)	.	ENSP00000368199		CCDS53977.1			1	
TONSL	0	LGGM	GRCh37	8	145655911	145655911	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	22	15	.	.	ENST00000409379.3:c.3819T>C	p.Ser1273=	p.S1273=	ENST00000409379	NM_013432.4	1273	tcT/tcC	0	1	1	UPI0000424A3B	0		ENST00000409379		ENSG00000160949	7801		37			HGNC	p.S1273S		TONSL		SNV							ENST00000409379	protein_coding			hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047		S		G		3849/4502							YES	TONSL,synonymous_variant,p.=,ENST00000409379,NM_013432.4;VPS28,upstream_gene_variant,,ENST00000377348,NM_183057.2;VPS28,upstream_gene_variant,,ENST00000529182,;VPS28,upstream_gene_variant,,ENST00000292510,NM_016208.3;VPS28,upstream_gene_variant,,ENST00000526054,;VPS28,upstream_gene_variant,,ENST00000533806,;VPS28,upstream_gene_variant,,ENST00000531032,;VPS28,upstream_gene_variant,,ENST00000530790,;AC084125.4,upstream_gene_variant,,ENST00000544423,;VPS28,upstream_gene_variant,,ENST00000526734,;VPS28,upstream_gene_variant,,ENST00000524521,;TONSL,non_coding_transcript_exon_variant,,ENST00000497613,;VPS28,upstream_gene_variant,,ENST00000530983,;VPS28,upstream_gene_variant,,ENST00000526204,;VPS28,upstream_gene_variant,,ENST00000526977,;VPS28,upstream_gene_variant,,ENST00000528142,;VPS28,upstream_gene_variant,,ENST00000530836,;VPS28,upstream_gene_variant,,ENST00000527797,;VPS28,upstream_gene_variant,,ENST00000531924,;							LOW	3819/4137		TONSL_HUMAN			Transcript			.	ENSP00000386239		CCDS34968.2			1	
DNAH5	0	LGGM	GRCh37	5	13871738	13871738	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	76	16	.	.	ENST00000265104.4:c.3533A>G	p.Asn1178Ser	p.N1178S	ENST00000265104	NM_001369.2	1178	aAc/aGc	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		92	-0.41		HGNC	p.N1178S	COSM1633967	DNAH5		SNV			1			1	ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13871738,T,C&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		N/S		C	neutral	3638/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=1005&re=1204&var=N1178S		O95496_HUMAN			YES	DNAH5,missense_variant,p.Asn1178Ser,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;					1		MODERATE	3533/13875	N1178S	DYH5_HUMAN			Transcript		benign(0.292)	.	ENSP00000265104		CCDS3882.1			1	
PABPC4	0	LGGM	GRCh37	1	40030184	40030184	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	55	17	.	.	ENST00000372858.3:c.1364A>G	p.Gln455Arg	p.Q455R	ENST00000372858	NM_001135653.1	455	cAg/cGg	0	1		UPI00001311AD	0	NA	ENST00000372857		ENSG00000090621	8557		72	1.23		HGNC	p.Q455R		PABPC4		SNV							ENST00000372862	protein_coding	getma.org/?cm=var&var=hg19,1,40030184,T,C&fts=all		hmmpanther:PTHR24011:SF265,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01628		Q/R		C	low	2157/3048		getma.org/?cm=msa&ty=f&p=PABP4_HUMAN&rb=365&re=551&var=Q455R	tolerated(0.59)	B1ANR1_HUMAN				PABPC4,missense_variant,p.Gln455Arg,ENST00000372857,NM_003819.3;PABPC4,missense_variant,p.Gln455Arg,ENST00000372856,NM_001135654.1;PABPC4,missense_variant,p.Gln455Arg,ENST00000372858,NM_001135653.1;PABPC4,missense_variant,p.Gln455Arg,ENST00000372862,;PABPC4,missense_variant,p.Gln357Arg,ENST00000421687,;PABPC4,missense_variant,p.Gln177Arg,ENST00000527718,;PABPC4,upstream_gene_variant,,ENST00000437136,;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,;PABPC4,downstream_gene_variant,,ENST00000492519,;							MODERATE	1364/1935	Q455R	PABP4_HUMAN			Transcript		benign(0.067)	.	ENSP00000361948		CCDS438.1			1	
SEPT7P9	0	LGGM	GRCh37	10	38682007	38682007	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	256	17	.	.	ENST00000489259.1:n.349-962G>T		*117*	ENST00000489259				0	1	1		0		ENST00000489259		ENSG00000120555	30810		273			HGNC	p.G12C		SEPT7P9		SNV							ENST00000489046	processed_transcript							A		-/743							YES	SEPT7P9,intron_variant,,ENST00000489259,;SEPT7P9,intron_variant,,ENST00000475691,;SEPT7P9,non_coding_transcript_exon_variant,,ENST00000328105,;SEPT7P9,non_coding_transcript_exon_variant,,ENST00000604116,;							MODIFIER						Transcript			.						1	
PRUNE2	0	LGGM	GRCh37	9	79321964	79321964	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	63	21	.	.	ENST00000376718.3:c.5226C>G	p.Asp1742Glu	p.D1742E	ENST00000376718	NM_015225.2	1742	gaC/gaG	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		84	0.55		HGNC	p.D1742E		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79321964,G,C&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		D/E		C	neutral	5350/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1192&re=2780&var=D1742E	tolerated(0.16)				YES	PRUNE2,missense_variant,p.Asp1383Glu,ENST00000428286,;PRUNE2,missense_variant,p.Asp1742Glu,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Asp1064Glu,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							MODERATE	5226/9267	D1742E	PRUN2_HUMAN			Transcript		possibly_damaging(0.551)	.	ENSP00000365908		CCDS47982.1			1	
ATP10D	0	LGGM	GRCh37	4	47548696	47548696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	85	22	.	.	ENST00000273859.3:c.1452C>A	p.Asp484Glu	p.D484E	ENST00000273859	NM_020453.3	484	gaC/gaA	0	1	1	UPI00001AE9B7	0	NA	ENST00000273859		ENSG00000145246	13549		107	1.15		HGNC	p.D484E		ATP10D		SNV							ENST00000273859	protein_coding	getma.org/?cm=var&var=hg19,4,47548696,C,A&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF61,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652		D/E		A	low	1721/6655		getma.org/?cm=msa&ty=f&p=AT10D_HUMAN&rb=435&re=1065&var=D484E	tolerated(0.61)				YES	ATP10D,missense_variant,p.Asp484Glu,ENST00000273859,NM_020453.3;ATP10D,missense_variant,p.Asp469Glu,ENST00000504445,;ATP10D,missense_variant,p.Asp132Glu,ENST00000503288,;							MODERATE	1452/4281	D484E	AT10D_HUMAN			Transcript		benign(0.009)	.	ENSP00000273859		CCDS3476.1			1	
TMEM30A	0	LGGM	GRCh37	6	75977363	75977363	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	87	25	.	.	ENST00000230461.6:c.339A>C	p.Ser113=	p.S113=	ENST00000230461	NM_018247.3	113	tcA/tcC	0	1	1	UPI0000071AE1	0		ENST00000230461		ENSG00000112697	16667		112			HGNC	p.S113S		TMEM30A		SNV							ENST00000230461	protein_coding			hmmpanther:PTHR10926,hmmpanther:PTHR10926:SF17,Pfam_domain:PF03381,PIRSF_domain:PIRSF015840		S		G		669/4594				E5RG19_HUMAN			YES	TMEM30A,synonymous_variant,p.=,ENST00000230461,NM_018247.3;TMEM30A,5_prime_UTR_variant,,ENST00000370050,;TMEM30A,5_prime_UTR_variant,,ENST00000518161,;TMEM30A,intron_variant,,ENST00000475111,NM_001143958.1;							LOW	339/1086		CC50A_HUMAN			Transcript			.	ENSP00000230461		CCDS4983.1			1	
MARK1	0	LGGM	GRCh37	1	220808856	220808856	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	50	29	.	.	ENST00000366917.4:c.1261C>T	p.Arg421Cys	p.R421C	ENST00000366917	NM_001286124.1	421	Cgt/Tgt	0	1	1	UPI0000048D8B	0	NA	ENST00000366917		ENSG00000116141	6896		79	2.715		HGNC	p.R421C	rs767820453,COSM1491954	MARK1		SNV				9.63E-05		0,1	ENST00000366917	protein_coding	getma.org/?cm=var&var=hg19,1,220808856,C,T&fts=all		hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346		R/C		T	medium	1527/2946	7.52E-05	getma.org/?cm=msa&ty=f&p=MARK1_HUMAN&rb=312&re=511&var=R421C	deleterious(0)	B4DIB3_HUMAN			YES	MARK1,missense_variant,p.Arg286Cys,ENST00000402574,NM_018650.3,NM_001286126.1;MARK1,missense_variant,p.Arg399Cys,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Arg421Cys,ENST00000366917,NM_001286124.1;					0,1		MODERATE	1261/2388	R421C	MARK1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000355884	4.94E-05	CCDS31029.2			1	
MAN2A1	0	LGGM	GRCh37	5	109049350	109049350	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	106	31	.	.	ENST00000261483.4:c.265A>C	p.Ser89Arg	p.S89R	ENST00000261483	NM_002372.2	89	Agt/Cgt	0	1	1	UPI000013D193	0	NA	ENST00000261483		ENSG00000112893	6824		137	1.355		HGNC	p.S89R		MAN2A1		SNV							ENST00000261483	protein_coding	getma.org/?cm=var&var=hg19,5,109049350,A,C&fts=all		hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20		S/R		C	low	1317/4667		getma.org/?cm=msa&ty=f&p=MA2A1_HUMAN&rb=1&re=166&var=S89R	tolerated(0.39)	Q49A69_HUMAN			YES	MAN2A1,missense_variant,p.Ser89Arg,ENST00000261483,NM_002372.2;							MODERATE	265/3435	S89R	MA2A1_HUMAN			Transcript		benign(0.101)	.	ENSP00000261483		CCDS34209.1			1	
MORF4L1	0	LGGM	GRCh37	15	79186521	79186521	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	92	33	.	.	ENST00000331268.5:c.868G>A	p.Asp290Asn	p.D290N	ENST00000331268	NM_206839.2	290	Gat/Aat	0	1	1	UPI000000D82F	0	getma.org/pdb.php?prot=MO4L1_HUMAN&from=165&to=350&var=D290N	ENST00000331268		ENSG00000185787	16989		125	1.76		HGNC	p.D251N	rs760359945	MORF4L1		SNV							ENST00000426013	protein_coding	getma.org/?cm=var&var=hg19,15,79186521,G,A&fts=all		Pfam_domain:PF05712,PIRSF_domain:PIRSF038133,PROSITE_profiles:PS51640,hmmpanther:PTHR10880,hmmpanther:PTHR10880:SF29		D/N		A	low	1072/2359	1.50E-05	getma.org/?cm=msa&ty=f&p=MO4L1_HUMAN&rb=165&re=350&var=D290N	tolerated(0.17)	H0YNX3_HUMAN,H0YNI8_HUMAN,H0YMT8_HUMAN,H0YM21_HUMAN,H0YLV1_HUMAN			YES	MORF4L1,missense_variant,p.Asp290Asn,ENST00000331268,NM_206839.2;MORF4L1,missense_variant,p.Asp276Asn,ENST00000379535,;MORF4L1,missense_variant,p.Asp251Asn,ENST00000426013,NM_006791.3;MORF4L1,missense_variant,p.Asp163Asn,ENST00000559345,NM_001265604.1,NM_001265605.1;MORF4L1,missense_variant,p.Asp224Asn,ENST00000558746,;MORF4L1,missense_variant,p.Asp163Asn,ENST00000558502,NM_001265603.1;MORF4L1,downstream_gene_variant,,ENST00000559158,;MORF4L1,downstream_gene_variant,,ENST00000560422,;MORF4L1,downstream_gene_variant,,ENST00000559690,;MORF4L1,downstream_gene_variant,,ENST00000559930,;MORF4L1,downstream_gene_variant,,ENST00000559751,;MORF4L1,downstream_gene_variant,,ENST00000558830,;MORF4L1,downstream_gene_variant,,ENST00000559244,;RNU6-415P,downstream_gene_variant,,ENST00000516252,;MORF4L1,intron_variant,,ENST00000561171,;MORF4L1,non_coding_transcript_exon_variant,,ENST00000560710,;MORF4L1,downstream_gene_variant,,ENST00000558893,;MORF4L1,downstream_gene_variant,,ENST00000558522,;MORF4L1,downstream_gene_variant,,ENST00000559258,;MORF4L1,downstream_gene_variant,,ENST00000558923,;							MODERATE	868/1089	D290N	MO4L1_HUMAN			Transcript		benign(0.076)	.	ENSP00000331310	8.24E-06	CCDS10307.1			1	
COL21A1	0	LGGM	GRCh37	6	55924920	55924920	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080782	H080782N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	58	34	.	.	ENST00000244728.5:c.2504C>G	p.Pro835Arg	p.P835R	ENST00000244728	NM_030820.3	835	cCg/cGg	0	1	1	UPI0000071DFE	0	NA	ENST00000244728		ENSG00000124749	17025		92	1.35		HGNC	p.P835R		COL21A1		SNV							ENST00000535941	protein_coding	getma.org/?cm=var&var=hg19,6,55924920,G,C&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,Low_complexity_(Seg):seg		P/R		C	low	2902/4339		getma.org/?cm=msa&ty=f&p=COLA1_HUMAN&rb=824&re=884&var=P835R	tolerated(0.37)	A6PVD9_HUMAN			YES	COL21A1,missense_variant,p.Pro835Arg,ENST00000244728,NM_030820.3;COL21A1,missense_variant,p.Pro835Arg,ENST00000535941,;COL21A1,missense_variant,p.Pro832Arg,ENST00000370819,;COL21A1,splice_region_variant,,ENST00000370808,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,intron_variant,,ENST00000467216,;COL21A1,splice_region_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000482933,;							MODERATE	2504/2874	P835R	COLA1_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000244728		CCDS55025.1			1	
TTC5	0	LGGM	GRCh37	14	20768939	20768939	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080782	H080782N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	77	34	.	.	ENST00000258821.3:c.223G>A	p.Gly75Arg	p.G75R	ENST00000258821	NM_138376.2	75	Ggg/Agg	0	1	1	UPI000013D00B	0	getma.org/pdb.php?prot=TTC5_HUMAN&from=1&to=84&var=G75R	ENST00000258821		ENSG00000136319	19274		111	2.33		HGNC	p.G75R		TTC5		SNV							ENST00000383029	protein_coding	getma.org/?cm=var&var=hg19,14,20768939,C,T&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR26312:SF69,hmmpanther:PTHR26312		G/R		T	medium	280/4779		getma.org/?cm=msa&ty=f&p=TTC5_HUMAN&rb=1&re=84&var=G75R	deleterious(0)				YES	TTC5,missense_variant,p.Gly75Arg,ENST00000258821,NM_138376.2;TTC5,missense_variant,p.Gly75Arg,ENST00000423949,;TTC5,downstream_gene_variant,,ENST00000553828,;CTD-2292M16.7,upstream_gene_variant,,ENST00000553419,;TTC5,missense_variant,p.Gly75Arg,ENST00000383029,;TTC5,non_coding_transcript_exon_variant,,ENST00000554157,;TTC5,non_coding_transcript_exon_variant,,ENST00000557379,;							MODERATE	223/1323	G75R	TTC5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000258821		CCDS9546.1			1	
LAMC2	0	LGGM	GRCh37	1	183205678	183205678	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	43	36	.	.	ENST00000264144.4:c.2540A>T	p.His847Leu	p.H847L	ENST00000264144	NM_005562.2	847	cAc/cTc	0	1	1	UPI000013D4CA	0	NA	ENST00000264144		ENSG00000058085	6493		79	1.87		HGNC	p.H847L		LAMC2		SNV			1				ENST00000264144	protein_coding	getma.org/?cm=var&var=hg19,1,183205678,A,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF79		H/L		T	low	2605/5147		getma.org/?cm=msa&ty=f&p=LAMC2_HUMAN&rb=818&re=1017&var=H847L	tolerated(0.23)				YES	LAMC2,missense_variant,p.His847Leu,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.His847Leu,ENST00000493293,NM_018891.2;LAMC2,upstream_gene_variant,,ENST00000461729,;							MODERATE	2540/3582	H847L	LAMC2_HUMAN			Transcript		benign(0.003)	.	ENSP00000264144		CCDS1352.1			1	
C18orf63	0	LGGM	GRCh37	18	72021398	72021398	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080782	H080782N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	130	44	.	.	ENST00000579455.1:c.1896A>G	p.Ile632Met	p.I632M	ENST00000579455	NM_001174123.1	632	atA/atG	0	1	1	UPI00006C192C	0	NA	ENST00000579455		ENSG00000206043	40037		174	1.1		HGNC	p.I632M		C18orf63		SNV							ENST00000382675	protein_coding	getma.org/?cm=var&var=hg19,18,72021398,A,G&fts=all				I/M		G	low	2225/5127		getma.org/?cm=msa&ty=f&p=CR063_HUMAN&rb=601&re=685&var=I632M	tolerated(0.07)				YES	C18orf63,missense_variant,p.Ile632Met,ENST00000579455,NM_001174123.1;							MODERATE	1896/2058	I632M	CR063_HUMAN			Transcript		benign(0.029)	.	ENSP00000464330		CCDS54189.1			1	
LPHN3	0	LGGM	GRCh37	4	62598728	62598728	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080782	H080782N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	123	47	.	.	ENST00000514591.1:c.651T>A	p.Ala217=	p.A217=	ENST00000514591		217	gcT/gcA	0	1	1	UPI00016278EF	0		ENST00000514591		ENSG00000150471	20974		170			HGNC	p.A217A		LPHN3		SNV							ENST00000514157	protein_coding			PROSITE_profiles:PS51132,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF60,Pfam_domain:PF02191,SMART_domains:SM00284		A		A		980/6297				Q4W5J9_HUMAN,E9PE04_HUMAN			YES	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,;							LOW	651/4410					Transcript			.	ENSP00000422533		CCDS54768.1			1	
KL	0	LGGM	GRCh37	13	33591212	33591212	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	8	2	.	.	ENST00000380099.3:c.634C>T	p.Leu212=	p.L212=	ENST00000380099	NM_004795.3	212	Ctg/Ttg	0	1	1	UPI000013CEBA	0		ENST00000380099		ENSG00000133116	6344		10			HGNC	p.L212L		KL		SNV			1				ENST00000380099	protein_coding			hmmpanther:PTHR10353:SF10,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445		L		T		642/5006				G3XKV3_HUMAN			YES	KL,synonymous_variant,p.=,ENST00000380099,NM_004795.3;KL,intron_variant,,ENST00000426690,;KL,non_coding_transcript_exon_variant,,ENST00000487852,;							LOW	634/3039		KLOT_HUMAN			Transcript			.	ENSP00000369442		CCDS9347.1			1	
NBPF14	0	LGGM	GRCh37	1	148012648	148012648	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	7	2	.	.	ENST00000310701.10:c.1328A>G	p.Val443=	p.V443=	ENST00000310701		443	gtA/gtG	0	1	1	UPI000059D042	0		ENST00000310701		ENSG00000122497	25232		9			HGNC	p.V437V	rs782672565	NBPF14		SNV							ENST00000369219	protein_coding			Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16,Low_complexity_(Seg):seg		V		C		1328/3689	0.00978			S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN			YES	NBPF14,synonymous_variant,p.=,ENST00000310701,;NBPF14,synonymous_variant,p.=,ENST00000369219,;NBPF14,synonymous_variant,p.=,ENST00000426874,;NBPF14,synonymous_variant,p.=,ENST00000392972,;NBPF14,intron_variant,,ENST00000448574,;NBPF14,intron_variant,,ENST00000458135,;NBPF14,intron_variant,,ENST00000444640,;NBPF14,intron_variant,,ENST00000431121,;NBPF14,intron_variant,,ENST00000436356,;	0.037						LOW	1329/2784			0.0222		Transcript			common_variant	ENSP00000309907	0.000482				1	
GSG2	0	LGGM	GRCh37	17	3627691	3627691	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	4	2	.	.	ENST00000325418.4:c.462C>A	p.Gly154=	p.G154=	ENST00000325418	NM_031965.2	154	ggC/ggA	0	1	1	UPI0000141654	0		ENST00000325418		ENSG00000177602	19682		6			HGNC	p.G154G		GSG2		SNV							ENST00000325418	protein_coding			hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF20		G		A		481/2857							YES	GSG2,synonymous_variant,p.=,ENST00000325418,NM_031965.2;ITGAE,intron_variant,,ENST00000263087,NM_002208.4;ITGAE,downstream_gene_variant,,ENST00000574026,;CTD-3195I5.4,upstream_gene_variant,,ENST00000575043,;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,;ITGAE,non_coding_transcript_exon_variant,,ENST00000571185,;ITGAE,upstream_gene_variant,,ENST00000570360,;ITGAE,upstream_gene_variant,,ENST00000572179,;ITGAE,intron_variant,,ENST00000570415,;ITGAE,upstream_gene_variant,,ENST00000572433,;							LOW	462/2397		HASP_HUMAN			Transcript			.	ENSP00000325290		CCDS11036.1			1	
ZNF658	0	LGGM	GRCh37	9	40772863	40772863	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	13	2	.	.	ENST00000602553.1:c.2412G>C	p.Gly804=	p.G804=	ENST00000602553		804	ggG/ggC	0	1	1	UPI000046D388	0		ENST00000602553		ENSG00000196409	25226		15			HGNC	p.G804G		ZNF658		SNV							ENST00000377626	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		G		2707/4155				B3KNB1_HUMAN			YES	ZNF658,synonymous_variant,p.=,ENST00000602553,;ZNF658,synonymous_variant,p.=,ENST00000377626,NM_033160.5;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;							LOW	2412/3180		ZN658_HUMAN			Transcript			.	ENSP00000473484		CCDS35023.1			1	
MGAT4A	0	LGGM	GRCh37	2	99256598	99256598	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	34	3	.	.	ENST00000264968.3:c.1114A>G	p.Ile372Val	p.I372V	ENST00000264968		372	Atc/Gtc	0	1	1	UPI000003F051	0	NA	ENST00000264968		ENSG00000071073	7047		37	1.465		HGNC	p.I372V		MGAT4A		SNV							ENST00000264968	protein_coding	getma.org/?cm=var&var=hg19,2,99256598,T,C&fts=all		hmmpanther:PTHR12062:SF4,hmmpanther:PTHR12062,Pfam_domain:PF04666		I/V		C	low	1478/8432		getma.org/?cm=msa&ty=f&p=MGT4A_HUMAN&rb=74&re=380&var=I372V	tolerated(0.37)				YES	MGAT4A,missense_variant,p.Ile372Val,ENST00000264968,;MGAT4A,missense_variant,p.Ile372Val,ENST00000393487,NM_012214.2;MGAT4A,missense_variant,p.Ile244Val,ENST00000414521,NM_001160154.1;MGAT4A,missense_variant,p.Ile372Val,ENST00000409391,;							MODERATE	1114/1608	I372V	MGT4A_HUMAN			Transcript		benign(0.038)	.	ENSP00000264968		CCDS2036.1			1	
ZNF607	0	LGGM	GRCh37	19	38189075	38189075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	42	3	.	.	ENST00000355202.4:c.1957G>T	p.Ala653Ser	p.A653S	ENST00000355202	NM_032689.4	653	Gct/Tct	0	1	1	UPI000040BC07	0	getma.org/pdb.php?prot=ZN607_HUMAN&from=631&to=656&var=A653S	ENST00000355202		ENSG00000198182	28192		45	0.73		HGNC	p.A653S		ZNF607		SNV							ENST00000355202	protein_coding	getma.org/?cm=var&var=hg19,19,38189075,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		A/S		A	neutral	2553/4364		getma.org/?cm=msa&ty=f&p=ZN607_HUMAN&rb=611&re=676&var=A653S	tolerated(0.09)	Q59G67_HUMAN,K7EN48_HUMAN			YES	ZNF607,missense_variant,p.Ala653Ser,ENST00000355202,NM_032689.4;ZNF607,missense_variant,p.Ala652Ser,ENST00000395835,NM_001172677.1;ZNF607,downstream_gene_variant,,ENST00000591664,;ZNF607,downstream_gene_variant,,ENST00000590670,;CTD-2528L19.4,intron_variant,,ENST00000586606,;CTD-2528L19.4,intron_variant,,ENST00000585547,;CTD-2528L19.4,intron_variant,,ENST00000591114,;ZNF607,downstream_gene_variant,,ENST00000586559,;CTD-2528L19.3,upstream_gene_variant,,ENST00000589357,;							MODERATE	1957/2091	A653S	ZN607_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000347338		CCDS33006.1			1	
ADRB1	0	LGGM	GRCh37	10	115804197	115804197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	31	3	.	.	ENST00000369295.2:c.306C>A	p.Ser102Arg	p.S102R	ENST00000369295	NM_000684.2	102	agC/agA	0	1	1	UPI00000503EC	0	getma.org/pdb.php?prot=ADRB1_HUMAN&from=75&to=377&var=S102R	ENST00000369295		ENSG00000043591	285		34	1.61		HGNC	p.S102R		ADRB1		SNV			1				ENST00000369295	protein_coding	getma.org/?cm=var&var=hg19,10,115804197,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF54,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/R		A	low	392/2862		getma.org/?cm=msa&ty=f&p=ADRB1_HUMAN&rb=75&re=377&var=S102R	deleterious(0)				YES	ADRB1,missense_variant,p.Ser102Arg,ENST00000369295,NM_000684.2;							MODERATE	306/1434	S102R	ADRB1_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000358301		CCDS7586.1			1	
SLC25A40	0	LGGM	GRCh37	7	87473165	87473165	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	42	3	.	.	ENST00000341119.5:c.645T>A	p.Tyr215Ter	p.Y215*	ENST00000341119	NM_018843.3	215	taT/taA	0	1	1	UPI0000071FF6	0	NA	ENST00000341119		ENSG00000075303	29680		45	0		HGNC	p.Y215X		SLC25A40		SNV							ENST00000341119	protein_coding	getma.org/?cm=var&var=hg19,7,87473165,A,T&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF225,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588		Y/*		T	NA	992/4045		NA					YES	SLC25A40,stop_gained,p.Tyr215Ter,ENST00000341119,NM_018843.3;SLC25A40,stop_gained,p.Tyr4Ter,ENST00000446236,;SLC25A40,intron_variant,,ENST00000429674,;SLC25A40,upstream_gene_variant,,ENST00000470328,;SLC25A40,upstream_gene_variant,,ENST00000496348,;							HIGH	645/1017	Y215*	S2540_HUMAN			Transcript			.	ENSP00000344831		CCDS5610.1			1	
ITGAL	0	LGGM	GRCh37	16	30532929	30532929	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	23	3	.	.	ENST00000356798.6:c.3456C>A	p.Pro1152=	p.P1152=	ENST00000356798	NM_002209.2	1152	ccC/ccA	0	1	1	UPI000013C4FF	0		ENST00000356798		ENSG00000005844	6148		26			HGNC	p.P1068P		ITGAL		SNV							ENST00000358164	protein_coding					P		A		3636/5213				I3L468_HUMAN,H3BNL5_HUMAN			YES	ITGAL,synonymous_variant,p.=,ENST00000356798,NM_002209.2;ITGAL,synonymous_variant,p.=,ENST00000358164,NM_001114380.1;ITGAL,synonymous_variant,p.=,ENST00000433423,;ZNF768,downstream_gene_variant,,ENST00000380412,NM_024671.3;ZNF768,downstream_gene_variant,,ENST00000562803,;ZNF747,downstream_gene_variant,,ENST00000535210,;ITGAL,downstream_gene_variant,,ENST00000566267,;ITGAL,non_coding_transcript_exon_variant,,ENST00000564632,;ZNF747,downstream_gene_variant,,ENST00000569360,;							LOW	3456/3513		ITAL_HUMAN			Transcript			.	ENSP00000349252		CCDS32433.1			1	
FBN2	0	LGGM	GRCh37	5	127702072	127702072	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	22	3	.	.	ENST00000508053.1:c.2300G>A	p.Arg767Lys	p.R767K	ENST00000508053		767	aGa/aAa	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=756&to=767&var=R767K	ENST00000262464		ENSG00000138829	3604		25	0.27		HGNC	p.R767K		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127702072,C,T&fts=all		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57184		R/K		T	neutral	2739/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=726&re=797&var=R767K	tolerated(0.13)					FBN2,missense_variant,p.Arg767Lys,ENST00000508053,;FBN2,missense_variant,p.Arg767Lys,ENST00000262464,NM_001999.3;FBN2,missense_variant,p.Arg734Lys,ENST00000508989,;Y_RNA,downstream_gene_variant,,ENST00000384560,;FBN2,splice_region_variant,,ENST00000511489,;							MODERATE	2300/8739	R767K	FBN2_HUMAN			Transcript		benign(0.146)	.	ENSP00000262464		CCDS34222.1			1	
PRSS16	0	LGGM	GRCh37	6	27218469	27218469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	17	3	.	.	ENST00000230582.3:c.475G>A	p.Asp159Asn	p.D159N	ENST00000230582	NM_005865.3	159	Gat/Aat	0	1	1	UPI0000137773	0	getma.org/pdb.php?prot=TSSP_HUMAN&from=64&to=494&var=D159N	ENST00000230582		ENSG00000112812	9480		20	3.72		HGNC	p.D159N		PRSS16		SNV							ENST00000230582	protein_coding	getma.org/?cm=var&var=hg19,6,27218469,G,A&fts=all		hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474		D/N		A	high	490/2716		getma.org/?cm=msa&ty=f&p=TSSP_HUMAN&rb=64&re=494&var=D159N	deleterious(0.02)	Q7Z5N5_HUMAN			YES	PRSS16,missense_variant,p.Asp159Asn,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.Asp51Asn,ENST00000475106,;PRSS16,missense_variant,p.Asp51Asn,ENST00000485993,;PRSS16,intron_variant,,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,intron_variant,,ENST00000454665,;PRSS16,intron_variant,,ENST00000470870,;PRSS16,intron_variant,,ENST00000468930,;PRSS16,intron_variant,,ENST00000466364,;PRSS16,upstream_gene_variant,,ENST00000485603,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000462664,;							MODERATE	475/1545	D159N	TSSP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000230582		CCDS4623.1			1	
PCDHAC1	0	LGGM	GRCh37	5	140307083	140307083	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	33	4	.	.	ENST00000253807.2:c.606G>C	p.Val202=	p.V202=	ENST00000253807	NM_018898.3	202	gtG/gtC	0	1	1	UPI000013CDF7	0		ENST00000253807		ENSG00000248383	8676		37			HGNC	p.V202V		PCDHAC1		SNV							ENST00000409700	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		C		606/5299							YES	PCDHAC1,synonymous_variant,p.=,ENST00000253807,NM_018898.3;PCDHAC1,synonymous_variant,p.=,ENST00000409700,NM_031882.2;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;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;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;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,;							LOW	606/2892		PCDC1_HUMAN			Transcript			.	ENSP00000253807		CCDS4241.1			1	
FAXC	0	LGGM	GRCh37	6	99797209	99797209	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	33	4	.	.	ENST00000389677.5:c.40G>T	p.Val14Leu	p.V14L	ENST00000389677	NM_032511.2	14	Gtg/Ttg	0	1	1	UPI000006FEA4	0	NA	ENST00000389677		ENSG00000146267	20742		37	1.79		HGNC	p.V14L		FAXC		SNV							ENST00000389677	protein_coding	getma.org/?cm=var&var=hg19,6,99797209,C,A&fts=all				V/L		A	low	323/11508		getma.org/?cm=msa&ty=f&p=FAXC_HUMAN&rb=1&re=200&var=V14L	tolerated_low_confidence(0.06)	Q9BR58_HUMAN			YES	FAXC,missense_variant,p.Val14Leu,ENST00000389677,NM_032511.2;FAXC,intron_variant,,ENST00000480148,;							MODERATE	40/1230	V14L	FAXC_HUMAN			Transcript		benign(0.02)	.	ENSP00000374328		CCDS34500.1			1	
TRPM1	0	LGGM	GRCh37	15	31334329	31334329	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	23	4	.	.	ENST00000542188.1:c.1963A>G	p.Met655Val	p.M655V	ENST00000542188	NM_001252020.1	655	Atg/Gtg	0	1		UPI00001FE144	0	NA	ENST00000397795		ENSG00000134160	7146		27	2.215		HGNC	p.M638V		TRPM1		SNV			1				ENST00000256552	protein_coding	getma.org/?cm=var&var=hg19,15,31334329,T,C&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13		M/V		C	medium	1960/5687		getma.org/?cm=msa&ty=f&p=TRPM1_HUMAN&rb=601&re=800&var=M616V	deleterious(0)	H0YKU7_HUMAN				TRPM1,missense_variant,p.Met655Val,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Met616Val,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Met638Val,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Met540Val,ENST00000558768,;TRPM1,missense_variant,p.Met616Val,ENST00000558445,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,intron_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;							MODERATE	1846/4812	M616V	TRPM1_HUMAN			Transcript		benign(0.066)	.	ENSP00000380897		CCDS10024.2			1	
MCPH1	0	LGGM	GRCh37	8	6299634	6299634	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	25	4	.	.	ENST00000344683.5:c.627G>C	p.Leu209=	p.L209=	ENST00000344683	NM_024596.3	209	ctG/ctC	0	1	1	UPI000020FF7E	0		ENST00000344683		ENSG00000147316	6954		29			HGNC	p.L161L		MCPH1		SNV			1				ENST00000522905	protein_coding			hmmpanther:PTHR14625,hmmpanther:PTHR14625:SF3		L		C		703/3158				Q6W7E5_HUMAN,Q6RBX4_HUMAN,Q6RBQ8_HUMAN,Q6RBJ2_HUMAN,Q6RBC6_HUMAN,Q6RB60_HUMAN,Q6RAZ4_HUMAN,Q6RAP8_HUMAN,Q6RAB6_HUMAN,Q6RA50_HUMAN			YES	MCPH1,synonymous_variant,p.=,ENST00000344683,NM_024596.3;MCPH1,synonymous_variant,p.=,ENST00000519480,NM_001172574.1;MCPH1,synonymous_variant,p.=,ENST00000522905,NM_001172575.1;							LOW	627/2508					Transcript			.	ENSP00000342924		CCDS43689.1			1	
CNDP1	0	LGGM	GRCh37	18	72228156	72228156	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	93	4	.	.	ENST00000358821.3:c.369G>A	p.Thr123=	p.T123=	ENST00000358821	NM_032649.5	123	acG/acA	0	1	1	UPI0000141054	0		ENST00000358821		ENSG00000150656	20675		97			HGNC	p.T80T	rs760096346,COSM3527535	CNDP1		SNV						0,1	ENST00000582365	protein_coding			Gene3D:3.40.630.10,PIRSF_domain:PIRSF037242,hmmpanther:PTHR11014,hmmpanther:PTHR11014:SF58,Superfamily_domains:SSF53187		T		A		597/2215	1.50E-05						YES	CNDP1,synonymous_variant,p.=,ENST00000582365,;CNDP1,synonymous_variant,p.=,ENST00000358821,NM_032649.5;RP11-231E4.3,downstream_gene_variant,,ENST00000583702,;CNDP1,intron_variant,,ENST00000585136,;CNDP1,upstream_gene_variant,,ENST00000584316,;					0,1		LOW	369/1524		CNDP1_HUMAN			Transcript			.	ENSP00000351682	8.24E-06	CCDS12007.1			1	
NT5C1A	0	LGGM	GRCh37	1	40131212	40131212	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	9	5	.	.	ENST00000235628.1:c.414C>G	p.Ile138Met	p.I138M	ENST00000235628	NM_032526.1	138	atC/atG	0	1	1	UPI000004978A	0	NA	ENST00000235628		ENSG00000116981	17819		14	1.19		HGNC	p.I138M		NT5C1A		SNV							ENST00000235628	protein_coding	getma.org/?cm=var&var=hg19,1,40131212,G,C&fts=all		Pfam_domain:PF06189,hmmpanther:PTHR31367,hmmpanther:PTHR31367:SF2		I/M		C	low	414/1107		getma.org/?cm=msa&ty=f&p=5NT1A_HUMAN&rb=81&re=354&var=I138M	deleterious(0.01)				YES	NT5C1A,missense_variant,p.Ile138Met,ENST00000235628,NM_032526.1;							MODERATE	414/1107	I138M	5NT1A_HUMAN			Transcript		possibly_damaging(0.521)	.	ENSP00000235628		CCDS440.1			1	
EEF1A1	0	LGGM	GRCh37	6	74228852	74228852	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	16	5	.	.	ENST00000316292.9:c.424A>G	p.Thr142Ala	p.T142A	ENST00000316292	NM_001402.5	142	Aca/Gca	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=5&to=238&var=T142A	ENST00000309268		ENSG00000156508	3189		21	2.085		HGNC	p.T142A		EEF1A1		SNV							ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74228852,T,C&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540		T/A		C	medium	1043/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=5&re=238&var=T142A	deleterious_low_confidence(0.01)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,missense_variant,p.Thr142Ala,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Thr142Ala,ENST00000309268,;EEF1A1,missense_variant,p.Thr142Ala,ENST00000331523,;EEF1A1,missense_variant,p.Thr142Ala,ENST00000356303,;EEF1A1,downstream_gene_variant,,ENST00000455918,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;							MODERATE	424/1389	T142A	EF1A1_HUMAN			Transcript		benign(0.404)	.	ENSP00000339053		CCDS4980.1			1	
BRWD1	0	LGGM	GRCh37	21	40569261	40569261	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	59	5	.	.	ENST00000333229.2:c.5734C>T	p.Gln1912Ter	p.Q1912*	ENST00000333229	NM_018963.4	1912	Cag/Tag	0	1	1	UPI0000163C12	0	NA	ENST00000333229		ENSG00000185658	12760		64	0		HGNC	p.Q1912X		BRWD1		SNV							ENST00000380800	protein_coding	getma.org/?cm=var&var=hg19,21,40569261,G,A&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26		Q/*		A	NA	6062/10141		NA					YES	BRWD1,stop_gained,p.Gln1912Ter,ENST00000342449,NM_033656.3;BRWD1,stop_gained,p.Gln1912Ter,ENST00000333229,NM_018963.4;BRWD1,stop_gained,p.Gln1912Ter,ENST00000380800,;BRWD1,3_prime_UTR_variant,,ENST00000446924,;BRWD1,downstream_gene_variant,,ENST00000491564,;							HIGH	5734/6963	Q1912*	BRWD1_HUMAN			Transcript			.	ENSP00000330753		CCDS13662.1			1	
GPR161	0	LGGM	GRCh37	1	168056846	168056846	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	64	5	.	.	ENST00000537209.1:c.1361A>T	p.Glu454Val	p.E454V	ENST00000537209	NM_001267609.1	454	gAg/gTg	0	1		UPI00000725FD	0	NA	ENST00000367835		ENSG00000143147	23694		69	1.845		HGNC	p.E454V		GPR161		SNV			1				ENST00000537209	protein_coding	getma.org/?cm=var&var=hg19,1,168056846,T,A&fts=all				E/V		A	low	1858/2400		getma.org/?cm=msa&ty=f&p=GP161_HUMAN&rb=325&re=524&var=E434V	deleterious_low_confidence(0)					GPR161,missense_variant,p.Glu434Val,ENST00000367838,NM_153832.2,NM_001267611.1;GPR161,missense_variant,p.Glu434Val,ENST00000271357,;GPR161,missense_variant,p.Glu434Val,ENST00000367835,NM_001267610.1;GPR161,missense_variant,p.Glu434Val,ENST00000361697,;GPR161,missense_variant,p.Glu454Val,ENST00000537209,NM_001267609.1;GPR161,missense_variant,p.Glu302Val,ENST00000367836,NM_001267612.1;GPR161,missense_variant,p.Glu356Val,ENST00000539777,NM_001267613.1;GPR161,missense_variant,p.Glu320Val,ENST00000546300,NM_001267614.1;GPR161,non_coding_transcript_exon_variant,,ENST00000478868,;GPR161,downstream_gene_variant,,ENST00000493800,;							MODERATE	1301/1590	E434V	GP161_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000356809		CCDS1268.1			1	
MPDZ	0	LGGM	GRCh37	9	13206022	13206022	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	69	5	.	.	ENST00000541718.1:c.1367T>G	p.Leu456Arg	p.L456R	ENST00000541718	NM_001261407.1	456	cTc/cGc	0	1		UPI0000211133	0	getma.org/pdb.php?prot=MPDZ_HUMAN&from=377&to=460&var=L456R	ENST00000319217		ENSG00000107186	7208		74	-1.82		HGNC	p.L456R		MPDZ		SNV			1				ENST00000536827	protein_coding	getma.org/?cm=var&var=hg19,9,13206022,A,C&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156		L/R		C	neutral	1615/7722		getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=377&re=460&var=L456R	tolerated(0.93)	B3KRN5_HUMAN,B3KQC9_HUMAN				MPDZ,missense_variant,p.Leu456Arg,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Leu456Arg,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Leu456Arg,ENST00000381022,;MPDZ,missense_variant,p.Leu456Arg,ENST00000381015,;MPDZ,missense_variant,p.Leu456Arg,ENST00000546205,;MPDZ,missense_variant,p.Leu456Arg,ENST00000447879,;MPDZ,missense_variant,p.Leu456Arg,ENST00000536827,;MPDZ,3_prime_UTR_variant,,ENST00000494251,;							MODERATE	1367/6213	L456R	MPDZ_HUMAN			Transcript		benign(0)	.	ENSP00000320006					1	
DENND1B	0	LGGM	GRCh37	1	197482062	197482062	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	29	5	.	.	ENST00000391979.2:c.457A>C	p.Lys153Gln	p.K153Q	ENST00000391979	NM_001195215.1	153	Aag/Cag	0	1	1	UPI0001881B37	0	NA	ENST00000391979		ENSG00000213047	28404		34	1.525		HGNC	p.K153Q		DENND1B		SNV							ENST00000391979	protein_coding	getma.org/?cm=var&var=hg19,1,197482062,T,G&fts=all		hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF24		K/Q		G	low	457/6960		getma.org/?cm=msa&ty=f&p=H0YGP6_HUMAN&rb=401&re=600&var=K513Q	tolerated(0.19)					DENND1B,missense_variant,p.Lys153Gln,ENST00000391979,NM_001195215.1;DENND1B,3_prime_UTR_variant,,ENST00000294737,;							MODERATE	457/1248	K513Q				Transcript		benign(0.003)	.	ENSP00000375839					1	
FADS2	0	LGGM	GRCh37	11	61632672	61632672	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	22	5	.	.	ENST00000278840.4:c.1206G>T	p.Leu402=	p.L402=	ENST00000278840	NM_004265.3	402	ctG/ctT	0	1	1	UPI000003405E	0		ENST00000278840		ENSG00000134824	3575		27			HGNC	p.L402L		FADS2		SNV							ENST00000278840	protein_coding			PIRSF_domain:PIRSF015921,Pfam_domain:PF00487,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF12		L		T		1836/3630				F5H622_HUMAN,E5RGZ5_HUMAN,E5RGD8_HUMAN,B3KVS0_HUMAN			YES	FADS2,synonymous_variant,p.=,ENST00000278840,NM_004265.3;FADS2,synonymous_variant,p.=,ENST00000257261,NM_001281501.1;FADS2,synonymous_variant,p.=,ENST00000522056,NM_001281502.1;FADS2,downstream_gene_variant,,ENST00000355484,;FADS2,downstream_gene_variant,,ENST00000521849,;FADS2,downstream_gene_variant,,ENST00000521571,;FADS2,non_coding_transcript_exon_variant,,ENST00000523235,;FADS2,non_coding_transcript_exon_variant,,ENST00000522359,;							LOW	1206/1335		FADS2_HUMAN			Transcript			.	ENSP00000278840		CCDS8012.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	28	5	.	.	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	1	1	UPI000012862F	0	NA	ENST00000349496	pathogenic	ENSG00000168036	2514		33	2.01		HGNC	p.S45F	rs121913409,COSM5667	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266137,C,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/F		T	medium	414/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S45F	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	134/2346	S45F	CTNB1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000344456		CCDS2694.1			1	
DYM	0	LGGM	GRCh37	18	46905001	46905001	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	28	6	.	.	ENST00000269445.6:c.357T>A	p.Cys119Ter	p.C119*	ENST00000269445	NM_017653.3	119	tgT/tgA	0	1	1	UPI00001AE953	0	NA	ENST00000269445		ENSG00000141627	21317		34	0		HGNC	p.C119X		DYM		SNV			1				ENST00000269445	protein_coding	getma.org/?cm=var&var=hg19,18,46905001,A,T&fts=all		hmmpanther:PTHR12895:SF9,hmmpanther:PTHR12895,Pfam_domain:PF09742		C/*		T	NA	815/2703		NA		J3QRF2_HUMAN,J3QR81_HUMAN,J3KSF9_HUMAN,J3KRG4_HUMAN			YES	DYM,stop_gained,p.Cys119Ter,ENST00000269445,NM_017653.3;DYM,5_prime_UTR_variant,,ENST00000578396,;DYM,intron_variant,,ENST00000442713,;DYM,downstream_gene_variant,,ENST00000583353,;DYM,non_coding_transcript_exon_variant,,ENST00000578596,;DYM,downstream_gene_variant,,ENST00000577481,;DYM,missense_variant,p.Ser27Thr,ENST00000418472,;DYM,3_prime_UTR_variant,,ENST00000579058,;							HIGH	357/2010	C119*	DYM_HUMAN			Transcript			.	ENSP00000269445		CCDS11937.1			1	
ZNHIT1	0	LGGM	GRCh37	7	100867016	100867016	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	26	6	.	.	ENST00000305105.2:c.336C>A	p.Pro112=	p.P112=	ENST00000305105	NM_006349.2	112	ccC/ccA	0	1	1	UPI0000073C91	0		ENST00000305105		ENSG00000106400	21688		32			HGNC	p.P112P		ZNHIT1		SNV							ENST00000305105	protein_coding			hmmpanther:PTHR13093		P		A		864/1225							YES	ZNHIT1,synonymous_variant,p.=,ENST00000305105,NM_006349.2;ZNHIT1,non_coding_transcript_exon_variant,,ENST00000492315,;ZNHIT1,non_coding_transcript_exon_variant,,ENST00000461205,;ZNHIT1,non_coding_transcript_exon_variant,,ENST00000485387,;							LOW	336/465		ZNHI1_HUMAN			Transcript			.	ENSP00000304593		CCDS5716.1			1	
SCRN1	0	LGGM	GRCh37	7	30008573	30008573	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	30	6	.	.	ENST00000434476.2:c.171G>A	p.Glu57=	p.E57=	ENST00000434476	NM_001145514.1	57	gaG/gaA	0	1		UPI000019B3D5	0		ENST00000242059		ENSG00000136193	22192		36			HGNC	p.E37E	rs763274907	SCRN1		SNV							ENST00000409497	protein_coding			hmmpanther:PTHR12994,hmmpanther:PTHR12994:SF7		E		T		269/5257	1.50E-05			C9K052_HUMAN,C9J7U9_HUMAN,B4DH22_HUMAN				SCRN1,synonymous_variant,p.=,ENST00000426154,NM_001145513.1;SCRN1,synonymous_variant,p.=,ENST00000242059,NM_001145515.1,NM_014766.4;SCRN1,synonymous_variant,p.=,ENST00000409497,;SCRN1,synonymous_variant,p.=,ENST00000434476,NM_001145514.1;SCRN1,synonymous_variant,p.=,ENST00000421434,;SCRN1,synonymous_variant,p.=,ENST00000438497,;SCRN1,synonymous_variant,p.=,ENST00000409570,;SCRN1,intron_variant,,ENST00000425819,;SCRN1,non_coding_transcript_exon_variant,,ENST00000494620,;							LOW	111/1245		SCRN1_HUMAN			Transcript			.	ENSP00000242059	8.24E-06	CCDS5422.1			1	
ARID4A	0	LGGM	GRCh37	14	58813789	58813789	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	20	6	.	.	ENST00000355431.3:c.1126A>G	p.Ile376Val	p.I376V	ENST00000355431	NM_002892.3	376	Att/Gtt	0	1	1	UPI000013FD01	0	getma.org/pdb.php?prot=ARI4A_HUMAN&from=306&to=397&var=I376V	ENST00000355431		ENSG00000032219	9885		26	0.065		HGNC	p.I376V		ARID4A		SNV							ENST00000355431	protein_coding	getma.org/?cm=var&var=hg19,14,58813789,A,G&fts=all		Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF1,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774		I/V		G	neutral	1499/5891		getma.org/?cm=msa&ty=f&p=ARI4A_HUMAN&rb=306&re=397&var=I376V	tolerated(0.91)	H7C485_HUMAN,C9JIF4_HUMAN			YES	ARID4A,missense_variant,p.Ile376Val,ENST00000355431,NM_002892.3;ARID4A,missense_variant,p.Ile376Val,ENST00000431317,;ARID4A,missense_variant,p.Ile376Val,ENST00000348476,NM_023001.2,NM_023000.2;ARID4A,missense_variant,p.Ile376Val,ENST00000395168,;ARID4A,missense_variant,p.Ile54Val,ENST00000417477,;ARID4A,upstream_gene_variant,,ENST00000553355,;							MODERATE	1126/3774	I376V	ARI4A_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000347602		CCDS9732.1			1	
TLN2	0	LGGM	GRCh37	15	62948231	62948231	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	26	6	.	.	ENST00000561311.1:c.606T>C	p.Ser202=	p.S202=	ENST00000561311		202	tcT/tcC	0	1		UPI00001FE5FC	0		ENST00000306829		ENSG00000171914	15447		32			HGNC	p.S202S		TLN2		SNV							ENST00000306829	protein_coding			PROSITE_profiles:PS50057,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,SMART_domains:SM00295,Superfamily_domains:SSF47031		S		C		606/11650								TLN2,synonymous_variant,p.=,ENST00000561311,;TLN2,synonymous_variant,p.=,ENST00000306829,NM_015059.2;TLN2,non_coding_transcript_exon_variant,,ENST00000474847,;							LOW	606/7629		TLN2_HUMAN			Transcript			.	ENSP00000303476		CCDS32261.1			1	
PKHD1	0	LGGM	GRCh37	6	51882236	51882236	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	50	6	.	.	ENST00000371117.3:c.5572T>G	p.Phe1858Val	p.F1858V	ENST00000371117	NM_138694.3	1858	Ttt/Gtt	0	1	1	UPI000013C4C0	0	NA	ENST00000371117		ENSG00000170927	9016		56	0.345		HGNC	p.F1858V		PKHD1		SNV			1				ENST00000340994	protein_coding	getma.org/?cm=var&var=hg19,6,51882236,A,C&fts=all		hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915		F/V		C	neutral	5848/16282		getma.org/?cm=msa&ty=f&p=PKHD1_HUMAN&rb=1858&re=1931&var=F1858V	tolerated(0.54)				YES	PKHD1,missense_variant,p.Phe1858Val,ENST00000371117,NM_138694.3;PKHD1,missense_variant,p.Phe1858Val,ENST00000340994,NM_170724.2;							MODERATE	5572/12225	F1858V	PKHD1_HUMAN			Transcript		benign(0.003)	.	ENSP00000360158		CCDS4935.1			1	
CDH8	0	LGGM	GRCh37	16	61854925	61854925	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	25	6	.	.	ENST00000577390.1:c.928C>G	p.Gln310Glu	p.Q310E	ENST00000577390	NM_001796.4	310	Cag/Gag	0	1	1	UPI0000126D9F	0	getma.org/pdb.php?prot=CADH8_HUMAN&from=281&to=383&var=Q310E	ENST00000577390		ENSG00000150394	1767		31	0.025		HGNC	p.Q310E		CDH8		SNV							ENST00000299345	protein_coding	getma.org/?cm=var&var=hg19,16,61854925,G,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		Q/E		C	neutral	1883/9721		getma.org/?cm=msa&ty=f&p=CADH8_HUMAN&rb=281&re=383&var=Q310E	tolerated(1)	J3KTG8_HUMAN,J3KT81_HUMAN			YES	CDH8,missense_variant,p.Gln310Glu,ENST00000577390,NM_001796.4;CDH8,missense_variant,p.Gln310Glu,ENST00000577730,;CDH8,missense_variant,p.Gln310Glu,ENST00000584337,;CDH8,missense_variant,p.Gln310Glu,ENST00000299345,;CDH8,missense_variant,p.Gln310Glu,ENST00000583382,;CDH8,missense_variant,p.Gln310Glu,ENST00000585315,;CDH8,upstream_gene_variant,,ENST00000582242,;							MODERATE	928/2400	Q310E	CADH8_HUMAN			Transcript		benign(0.015)	.	ENSP00000462701		CCDS10802.1			1	
GLRA1	0	LGGM	GRCh37	5	151234630	151234630	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	45	6	.	.	ENST00000455880.2:c.668T>A	p.Leu223Ter	p.L223*	ENST00000455880		223	tTg/tAg	0	1	1	UPI0000DA6BF2	0	NA	ENST00000455880		ENSG00000145888	4326		51	0		HGNC	p.L223X		GLRA1		SNV			1				ENST00000274576	protein_coding	getma.org/?cm=var&var=hg19,5,151234630,A,T&fts=all		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF213,TIGRFAM_domain:TIGR00860		L/*		T	NA	955/1707		NA					YES	GLRA1,stop_gained,p.Leu223Ter,ENST00000274576,NM_001146040.1,NM_000171.3;GLRA1,stop_gained,p.Leu223Ter,ENST00000455880,;GLRA1,stop_gained,p.Leu140Ter,ENST00000545569,;GLRA1,non_coding_transcript_exon_variant,,ENST00000471351,;GLRA1,3_prime_UTR_variant,,ENST00000462581,;RP11-54C4.2,downstream_gene_variant,,ENST00000603996,;							HIGH	668/1374	L223*	GLRA1_HUMAN			Transcript			.	ENSP00000411593		CCDS54942.1			1	
BCAR3	0	LGGM	GRCh37	1	94047959	94047959	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	37	6	.	.	ENST00000370244.1:c.1585A>C	p.Asn529His	p.N529H	ENST00000370244	NM_001261408.1	529	Aat/Cat	0	1		UPI000000D971	0	getma.org/pdb.php?prot=BCAR3_HUMAN&from=435&to=544&var=N529H	ENST00000260502		ENSG00000137936	973		43	2.67		HGNC	p.N438H		BCAR3		SNV							ENST00000370247	protein_coding	getma.org/?cm=var&var=hg19,1,94047959,T,G&fts=all		Superfamily_domains:0041591,hmmpanther:PTHR14247,hmmpanther:PTHR14247:SF10		N/H		G	medium	1828/3171		getma.org/?cm=msa&ty=f&p=BCAR3_HUMAN&rb=435&re=544&var=N529H	deleterious(0)	B3KNL6_HUMAN				BCAR3,missense_variant,p.Asn529His,ENST00000370244,NM_001261408.1;BCAR3,missense_variant,p.Asn529His,ENST00000370243,NM_001261409.1;BCAR3,missense_variant,p.Asn529His,ENST00000260502,NM_003567.3;BCAR3,missense_variant,p.Asn438His,ENST00000370247,NM_001261410.1;BCAR3,missense_variant,p.Asn205His,ENST00000539242,;BCAR3,non_coding_transcript_exon_variant,,ENST00000466632,;							MODERATE	1585/2478	N529H	BCAR3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260502		CCDS745.1			1	
TARDBP	0	LGGM	GRCh37	1	11076947	11076947	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	56	6	.	.	ENST00000240185.3:c.285A>G	p.Lys95=	p.K95=	ENST00000240185	NM_007375.3	95	aaA/aaG	0	1	1	UPI0000136B42	0		ENST00000240185		ENSG00000120948	11571		62			HGNC	p.K95K		TARDBP		SNV			1				ENST00000315091	protein_coding			Gene3D:3.30.70.330,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF67		K		G		399/2748				K7EJM5_HUMAN			YES	TARDBP,synonymous_variant,p.=,ENST00000240185,NM_007375.3;TARDBP,synonymous_variant,p.=,ENST00000315091,;TARDBP,synonymous_variant,p.=,ENST00000476201,;TARDBP,synonymous_variant,p.=,ENST00000473118,;TARDBP,intron_variant,,ENST00000439080,;TARDBP,synonymous_variant,p.=,ENST00000473869,;TARDBP,3_prime_UTR_variant,,ENST00000472476,;TARDBP,upstream_gene_variant,,ENST00000477447,;							LOW	285/1245		TADBP_HUMAN			Transcript			.	ENSP00000240185		CCDS122.1			1	
WIPF1	0	LGGM	GRCh37	2	175436957	175436957	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	25	7	.	.	ENST00000392547.2:c.576A>G	p.Arg192=	p.R192=	ENST00000392547	NM_003387.4	192	agA/agG	0	1		UPI000013D4BD	0		ENST00000359761		ENSG00000115935	12736		32			HGNC	p.R192R		WIPF1		SNV			1				ENST00000392546	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23202:SF30,hmmpanther:PTHR23202		R		C		724/2003				C9JTB9_HUMAN				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,synonymous_variant,p.=,ENST00000409415,;WIPF1,downstream_gene_variant,,ENST00000410117,;WIPF1,downstream_gene_variant,,ENST00000455428,;WIPF1,downstream_gene_variant,,ENST00000436221,;AC018890.6,intron_variant,,ENST00000442996,;AC018890.6,intron_variant,,ENST00000412835,;AC010894.5,upstream_gene_variant,,ENST00000454203,;WIPF1,upstream_gene_variant,,ENST00000467149,;							LOW	576/1512		WIPF1_HUMAN			Transcript			.	ENSP00000352802		CCDS2260.1			1	
MYO5C	0	LGGM	GRCh37	15	52504043	52504043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	44	7	.	.	ENST00000261839.7:c.4180G>A	p.Gly1394Arg	p.G1394R	ENST00000261839	NM_018728.3	1394	Ggg/Agg	0	1	1	UPI000013D20E	0	NA	ENST00000261839		ENSG00000128833	7604		51	2.525		HGNC	p.G1394R		MYO5C		SNV							ENST00000261839	protein_coding	getma.org/?cm=var&var=hg19,15,52504043,C,T&fts=all		hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140		G/R		T	medium	4342/6971		getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=1340&re=1539&var=G1394R	deleterious(0.03)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Gly1394Arg,ENST00000261839,NM_018728.3;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,non_coding_transcript_exon_variant,,ENST00000559696,;							MODERATE	4180/5229	G1394R	MYO5C_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000261839		CCDS42036.1			1	
CEP170B	0	LGGM	GRCh37	14	105350347	105350347	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	8	7	.	.	ENST00000414716.3:c.1231G>A	p.Glu411Lys	p.E411K	ENST00000414716	NM_001112726.2	411	Gag/Aag	0	1	1	UPI00001FDCF7	0	NA	ENST00000414716		ENSG00000099814	20362		15	1.24		HGNC	p.E412K		CEP170B		SNV							ENST00000453495	protein_coding	getma.org/?cm=var&var=hg19,14,105350347,G,A&fts=all		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18		E/K		A	low	1459/6705		getma.org/?cm=msa&ty=f&p=K0284_HUMAN&rb=291&re=490&var=E411K	deleterious(0.01)	E9PFC1_HUMAN			YES	CEP170B,missense_variant,p.Glu412Lys,ENST00000453495,;CEP170B,missense_variant,p.Glu411Lys,ENST00000414716,NM_001112726.2;CEP170B,missense_variant,p.Glu341Lys,ENST00000556508,NM_015005.2;CEP170B,missense_variant,p.Glu341Lys,ENST00000418279,;							MODERATE	1231/4665	E411K	C170B_HUMAN			Transcript		benign(0.3)	.	ENSP00000404151		CCDS45175.1			1	
MACF1	0	LGGM	GRCh37	1	39824865	39824865	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	43	7	.	.	ENST00000545844.1:c.5987A>G	p.Lys1996Arg	p.K1996R	ENST00000545844		1996	aAa/aGa	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		50	1.52		HGNC	p.K4058R		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39824865,A,G&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		K/R		G	low	12275/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=1801&re=2000&var=K1996R		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Lys4058Arg,ENST00000564288,;MACF1,missense_variant,p.Lys4095Arg,ENST00000567887,;MACF1,missense_variant,p.Lys4063Arg,ENST00000372915,;MACF1,missense_variant,p.Lys2498Arg,ENST00000289893,;MACF1,missense_variant,p.Lys1996Arg,ENST00000545844,;MACF1,missense_variant,p.Lys1996Arg,ENST00000317713,;MACF1,missense_variant,p.Lys1996Arg,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Lys1996Arg,ENST00000539005,;MACF1,missense_variant,p.Lys1130Arg,ENST00000372925,;MACF1,downstream_gene_variant,,ENST00000530262,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;							MODERATE	12188/22167	K1996R	MACF1_HUMAN			Transcript		possibly_damaging(0.557)	.	ENSP00000362006					1	
CTSV	0	LGGM	GRCh37	9	99797049	99797049	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	51	7	.	.	ENST00000259470.5:c.864A>G	p.Gly288=	p.G288=	ENST00000259470	NM_001333.3	288	ggA/ggG	0	1	1	UPI0000001C15	0		ENST00000259470		ENSG00000136943	2538		58			HGNC	p.G288G		CTSV		SNV							ENST00000538255	protein_coding			Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF306,SMART_domains:SM00645,Superfamily_domains:SSF54001		G		C		1114/1546							YES	CTSV,synonymous_variant,p.=,ENST00000259470,NM_001333.3;CTSV,synonymous_variant,p.=,ENST00000538255,NM_001201575.1;CTSV,downstream_gene_variant,,ENST00000479932,;							LOW	864/1005		CATL2_HUMAN			Transcript			.	ENSP00000259470		CCDS6723.1			1	
RBM27	0	LGGM	GRCh37	5	145613238	145613238	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	54	7	.	.	ENST00000265271.5:c.1076A>G	p.His359Arg	p.H359R	ENST00000265271	NM_018989.1	359	cAt/cGt	0	1	1	UPI00001D7F03	0	NA	ENST00000265271		ENSG00000091009	29243		61	0		HGNC	p.H359R	rs779128785	RBM27	7.16E-05	SNV							ENST00000265271	protein_coding	getma.org/?cm=var&var=hg19,5,145613238,A,G&fts=all		hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF1		H/R		G	neutral	1242/6451	1.54E-05	getma.org/?cm=msa&ty=f&p=RBM27_HUMAN&rb=301&re=500&var=H359R	tolerated_low_confidence(0.43)				YES	RBM27,missense_variant,p.His359Arg,ENST00000265271,NM_018989.1;RBM27,missense_variant,p.His359Arg,ENST00000506502,;							MODERATE	1076/3183	H359R	RBM27_HUMAN			Transcript		benign(0.003)	.	ENSP00000265271	1.66E-05	CCDS43378.1			1	
SERPINI1	0	LGGM	GRCh37	3	167512514	167512514	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	48	8	.	.	ENST00000295777.5:c.783A>C	p.Glu261Asp	p.E261D	ENST00000295777	NM_005025.4	261	gaA/gaC	0	1	1	UPI000002FBA4	0	getma.org/pdb.php?prot=NEUS_HUMAN&from=24&to=397&var=E261D	ENST00000295777		ENSG00000163536	8943		56	1.47		HGNC	p.E9D		SERPINI1		SNV			1				ENST00000466979	protein_coding	getma.org/?cm=var&var=hg19,3,167512514,A,C&fts=all		Superfamily_domains:SSF56574,SMART_domains:SM00093,Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461:SF50,hmmpanther:PTHR11461		E/D		C	low	1214/1907		getma.org/?cm=msa&ty=f&p=NEUS_HUMAN&rb=24&re=397&var=E261D	tolerated(0.59)	C9JQU8_HUMAN,C9JDY5_HUMAN			YES	SERPINI1,missense_variant,p.Glu261Asp,ENST00000295777,NM_005025.4;SERPINI1,missense_variant,p.Glu261Asp,ENST00000446050,NM_001122752.1;SERPINI1,downstream_gene_variant,,ENST00000472747,;SERPINI1,downstream_gene_variant,,ENST00000472941,;							MODERATE	783/1233	E261D	NEUS_HUMAN			Transcript		possibly_damaging(0.623)	.	ENSP00000295777		CCDS3203.1			1	
HGD	0	LGGM	GRCh37	3	120369662	120369662	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	62	8	.	.	ENST00000283871.5:c.393T>G	p.Leu131=	p.L131=	ENST00000283871	NM_000187.3	131	ctT/ctG	0	1	1	UPI000020A025	0		ENST00000283871		ENSG00000113924	4892		70			HGNC	p.L131L		HGD		SNV			1				ENST00000283871	protein_coding			hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Pfam_domain:PF04209,Superfamily_domains:SSF51182		L		C		853/2005				B3KW64_HUMAN			YES	HGD,synonymous_variant,p.=,ENST00000283871,NM_000187.3;HGD,synonymous_variant,p.=,ENST00000476082,;HGD,upstream_gene_variant,,ENST00000494453,;HGD,upstream_gene_variant,,ENST00000475447,;HGD,non_coding_transcript_exon_variant,,ENST00000485313,;HGD,downstream_gene_variant,,ENST00000488183,;HGD,synonymous_variant,p.=,ENST00000492108,;							LOW	393/1338		HGD_HUMAN			Transcript			.	ENSP00000283871		CCDS3000.1			1	
TJP1	0	LGGM	GRCh37	15	30011331	30011331	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	43	8	.	.	ENST00000346128.6:c.3015G>A	p.Lys1005=	p.K1005=	ENST00000346128	NM_175610.2	1005	aaG/aaA	0	1	1	UPI000013DC83	0		ENST00000346128		ENSG00000104067	11827		51			HGNC	p.K1005K		TJP1		SNV							ENST00000356107	protein_coding			hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25		K		T		3490/7950							YES	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,non_coding_transcript_exon_variant,,ENST00000561307,;							LOW	3015/5247		ZO1_HUMAN			Transcript			.	ENSP00000281537		CCDS42007.1			1	
SEC13	0	LGGM	GRCh37	3	10347358	10347358	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	39	8	.	.	ENST00000350697.3:c.469A>C	p.Ser157Arg	p.S157R	ENST00000350697	NM_183352.2	157	Agc/Cgc	0	1	1	UPI0000072378	0	getma.org/pdb.php?prot=SEC13_HUMAN&from=140&to=195&var=S157R	ENST00000350697		ENSG00000157020	10697		47	3.58		HGNC	p.S143R		SEC13		SNV							ENST00000397117	protein_coding	getma.org/?cm=var&var=hg19,3,10347358,T,G&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR11024,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		S/R		G	high	595/1425		getma.org/?cm=msa&ty=f&p=SEC13_HUMAN&rb=140&re=195&var=S157R	deleterious(0)	A4UCS7_HUMAN			YES	SEC13,missense_variant,p.Ser143Arg,ENST00000397117,;SEC13,missense_variant,p.Ser203Arg,ENST00000383801,NM_001136026.2;SEC13,missense_variant,p.Ser143Arg,ENST00000397109,NM_001136232.2;SEC13,missense_variant,p.Ser157Arg,ENST00000350697,NM_183352.2;SEC13,missense_variant,p.Ser160Arg,ENST00000337354,NM_030673.3;SEC13,upstream_gene_variant,,ENST00000492602,;SEC13,non_coding_transcript_exon_variant,,ENST00000479868,;SEC13,non_coding_transcript_exon_variant,,ENST00000477547,;SEC13,non_coding_transcript_exon_variant,,ENST00000490283,;SEC13,non_coding_transcript_exon_variant,,ENST00000476597,;							MODERATE	469/969	S157R	SEC13_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000312122		CCDS2599.1			1	
POLR3A	0	LGGM	GRCh37	10	79767583	79767583	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	53	8	.	.	ENST00000372371.3:c.1951G>T	p.Asp651Tyr	p.D651Y	ENST00000372371	NM_007055.3	651	Gac/Tac	0	1	1	UPI000007456A	0	getma.org/pdb.php?prot=RPC1_HUMAN&from=528&to=703&var=D651Y	ENST00000372371		ENSG00000148606	30074		61	3.92		HGNC	p.D651Y		POLR3A		SNV			1				ENST00000372371	protein_coding	getma.org/?cm=var&var=hg19,10,79767583,C,A&fts=all		hmmpanther:PTHR19376:SF31,hmmpanther:PTHR19376,Pfam_domain:PF04983,Superfamily_domains:SSF64484		D/Y		A	high	2089/6640		getma.org/?cm=msa&ty=f&p=RPC1_HUMAN&rb=528&re=703&var=D651Y	deleterious(0)	Q8TCW4_HUMAN,Q8TCW3_HUMAN,Q8TCW2_HUMAN			YES	POLR3A,missense_variant,p.Asp651Tyr,ENST00000372371,NM_007055.3;POLR3A,non_coding_transcript_exon_variant,,ENST00000472014,;POLR3A,3_prime_UTR_variant,,ENST00000473588,;							MODERATE	1951/4173	D651Y	RPC1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000361446		CCDS7354.1			1	
HGD	0	LGGM	GRCh37	3	120369664	120369664	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	63	8	.	.	ENST00000283871.5:c.391C>A	p.Leu131Ile	p.L131I	ENST00000283871	NM_000187.3	131	Ctt/Att	0	1	1	UPI000020A025	0	getma.org/pdb.php?prot=HGD_HUMAN&from=5&to=434&var=L131I	ENST00000283871		ENSG00000113924	4892		71	0.275		HGNC	p.L131I		HGD		SNV			1				ENST00000283871	protein_coding	getma.org/?cm=var&var=hg19,3,120369664,G,T&fts=all		hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Pfam_domain:PF04209,Superfamily_domains:SSF51182		L/I		T	neutral	851/2005		getma.org/?cm=msa&ty=f&p=HGD_HUMAN&rb=5&re=434&var=L131I	tolerated(0.9)	B3KW64_HUMAN			YES	HGD,missense_variant,p.Leu131Ile,ENST00000283871,NM_000187.3;HGD,missense_variant,p.Leu90Ile,ENST00000476082,;HGD,upstream_gene_variant,,ENST00000494453,;HGD,upstream_gene_variant,,ENST00000475447,;HGD,non_coding_transcript_exon_variant,,ENST00000485313,;HGD,downstream_gene_variant,,ENST00000488183,;HGD,missense_variant,p.Leu8Ile,ENST00000492108,;							MODERATE	391/1338	L131I	HGD_HUMAN			Transcript		benign(0.025)	.	ENSP00000283871		CCDS3000.1			1	
GPR142	0	LGGM	GRCh37	17	72363744	72363744	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	38	9	.	.	ENST00000335666.4:c.100G>T	p.Glu34Ter	p.E34*	ENST00000335666	NM_181790.1	34	Gaa/Taa	0	1	1	UPI00001AA7F1	0	NA	ENST00000335666		ENSG00000257008	20088		47	0		HGNC	p.E34X		GPR142		SNV							ENST00000582579	protein_coding	getma.org/?cm=var&var=hg19,17,72363744,G,T&fts=all				E/*		T	NA	148/1437		NA					YES	GPR142,stop_gained,p.Glu34Ter,ENST00000335666,NM_181790.1;GPR142,stop_gained,p.Glu34Ter,ENST00000582579,;GPR142,stop_gained,p.Glu34Ter,ENST00000585308,;							HIGH	100/1389	E34*	GP142_HUMAN			Transcript			.	ENSP00000335158		CCDS11698.1			1	
NRP1	0	LGGM	GRCh37	10	33491728	33491728	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	48	9	.	.	ENST00000265371.4:c.1864+91C>T		*622*	ENST00000265371				0	1	1	UPI000013D60A	0		ENST00000265371		ENSG00000099250	8004		57			HGNC	p.P652L	rs372425396,COSM1584917	NRP1	0.000165	SNV						0,1	ENST00000374823	protein_coding		A:0					A		-/5882				Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN	A:0	A:0	YES	NRP1,missense_variant,p.Pro652Leu,ENST00000374823,;NRP1,intron_variant,,ENST00000265371,;NRP1,intron_variant,,ENST00000374867,NM_001244973.1,NM_003873.5,NM_001244972.1;NRP1,intron_variant,,ENST00000374875,;NRP1,intron_variant,,ENST00000395995,;NRP1,intron_variant,,ENST00000374822,NM_001024628.2;NRP1,intron_variant,,ENST00000374821,NM_001024629.2;NRP1,intron_variant,,ENST00000418675,;NRP1,intron_variant,,ENST00000466932,;NRP1,intron_variant,,ENST00000431894,;NRP1,downstream_gene_variant,,ENST00000374816,;	0.000181	A:0.0002			0,1		MODIFIER	-/2772		NRP1_HUMAN		A:0	Transcript			.	ENSP00000265371	2.47E-05	CCDS7177.1		A:0.001	1	
PPTC7	0	LGGM	GRCh37	12	110974896	110974896	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	86	9	.	.	ENST00000354300.3:c.861A>G	p.Gly287=	p.G287=	ENST00000354300	NM_139283.1	287	ggA/ggG	0	1	1	UPI000003F57A	0		ENST00000354300		ENSG00000196850	30695		95			HGNC	p.G287G		PPTC7		SNV							ENST00000354300	protein_coding			hmmpanther:PTHR12320,Pfam_domain:PF07228,Gene3D:3.60.40.10,SMART_domains:SM00331,SMART_domains:SM00332,Superfamily_domains:SSF81606		G		C		1150/6926							YES	PPTC7,synonymous_variant,p.=,ENST00000354300,NM_139283.1;PPTC7,non_coding_transcript_exon_variant,,ENST00000548721,;							LOW	861/915		PPTC7_HUMAN			Transcript			.	ENSP00000346255		CCDS9149.1			1	
SACS	0	LGGM	GRCh37	13	23906950	23906950	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	42	9	.	.	ENST00000382298.3:c.11065C>A	p.Pro3689Thr	p.P3689T	ENST00000382298	NM_014363.5	3689	Cca/Aca	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		51	1.1		HGNC	p.P2939T		SACS		SNV			1				ENST00000402364	protein_coding	getma.org/?cm=var&var=hg19,13,23906950,G,T&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		P/T		T	low	11339/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=3682&re=3881&var=P3689T						SACS,missense_variant,p.Pro3689Thr,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Pro3689Thr,ENST00000382292,;SACS,missense_variant,p.Pro2939Thr,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							MODERATE	11065/13740	P3689T	SACS_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000371729		CCDS9300.2			1	
NPY5R	0	LGGM	GRCh37	4	164272528	164272528	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	41	9	.	.	ENST00000515560.1:c.1103A>G	p.Tyr368Cys	p.Y368C	ENST00000515560		368	tAc/tGc	0	1		UPI000000D9D7	0	getma.org/pdb.php?prot=NPY5R_HUMAN&from=58&to=425&var=Y368C	ENST00000338566		ENSG00000164129	7958	8.64E-05	50	0.415		HGNC	p.Y368C	rs748078024	NPY5R		SNV							ENST00000506953	protein_coding	getma.org/?cm=var&var=hg19,4,164272528,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR01016,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF167,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/C		G	neutral	1285/1843		getma.org/?cm=msa&ty=f&p=NPY5R_HUMAN&rb=58&re=425&var=Y368C	tolerated(0.25)					NPY5R,missense_variant,p.Tyr368Cys,ENST00000515560,;NPY5R,missense_variant,p.Tyr368Cys,ENST00000338566,NM_006174.2;NPY5R,missense_variant,p.Tyr368Cys,ENST00000506953,;							MODERATE	1103/1338	Y368C	NPY5R_HUMAN			Transcript		benign(0.056)	.	ENSP00000339377	8.24E-06	CCDS3804.1			1	
GPR6	0	LGGM	GRCh37	6	110300585	110300585	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	29	9	.	.	ENST00000275169.3:c.270C>T	p.Asn90=	p.N90=	ENST00000275169	NM_005284.3	90	aaC/aaT	0	1	1	UPI000000DA4A	0		ENST00000275169		ENSG00000146360	4515		38			HGNC	p.N90N		GPR6		SNV							ENST00000275169	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF19,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		N		T		288/1624				F1DAM6_HUMAN,E7EP76_HUMAN			YES	GPR6,synonymous_variant,p.=,ENST00000414000,NM_001286099.1;GPR6,synonymous_variant,p.=,ENST00000275169,NM_005284.3;							LOW	270/1089		GPR6_HUMAN			Transcript			.	ENSP00000275169		CCDS5079.1			1	
CENPL	0	LGGM	GRCh37	1	173772196	173772196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	64	9	.	.	ENST00000356198.2:c.1006C>T	p.His336Tyr	p.H336Y	ENST00000356198	NM_001127181.2	336	Cat/Tat	0	1		UPI0000073B64	0	NA	ENST00000345664		ENSG00000120334	17879		73	2.135		HGNC	p.H290Y		CENPL		SNV							ENST00000345664	protein_coding	getma.org/?cm=var&var=hg19,1,173772196,G,A&fts=all		Pfam_domain:PF13092,hmmpanther:PTHR31740,hmmpanther:PTHR31740:SF2		H/Y		A	medium	1082/1847		getma.org/?cm=msa&ty=f&p=CENPL_HUMAN&rb=176&re=326&var=H290Y	deleterious(0)					CENPL,missense_variant,p.His336Tyr,ENST00000356198,NM_001127181.2;CENPL,missense_variant,p.His290Tyr,ENST00000345664,NM_001171182.1;CENPL,missense_variant,p.His290Tyr,ENST00000367710,NM_033319.3;CENPL,non_coding_transcript_exon_variant,,ENST00000496683,;CENPL,non_coding_transcript_exon_variant,,ENST00000484920,;CENPL,intron_variant,,ENST00000460816,;CENPL,downstream_gene_variant,,ENST00000479159,;							MODERATE	868/1035	H290Y	CENPL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323543		CCDS30938.1			1	
BRCA2	0	LGGM	GRCh37	13	32945125	32945125	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	54	9	.	.	ENST00000380152.3:c.8520A>G	p.Ile2840Met	p.I2840M	ENST00000380152		2840	atA/atG	0	1		UPI00001FCBCC	0	getma.org/pdb.php?prot=BRCA2_HUMAN&from=2831&to=2872&var=I2840M	ENST00000380152		ENSG00000139618	1101		63	2.015		HGNC	p.I2840M		BRCA2		SNV			1				ENST00000544455	protein_coding	getma.org/?cm=var&var=hg19,13,32945125,A,G&fts=all		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,Pfam_domain:PF09121,PIRSF_domain:PIRSF002397,Superfamily_domains:SSF81878		I/M		G	medium	8753/10930		getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=2831&re=2872&var=I2840M	deleterious(0.03)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN				BRCA2,missense_variant,p.Ile2840Met,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.Ile2840Met,ENST00000380152,;BRCA2,missense_variant,p.Ile6Met,ENST00000528762,;							MODERATE	8520/10257	I2840M	BRCA2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000369497		CCDS9344.1			1	
UBQLNL	0	LGGM	GRCh37	11	5536721	5536721	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	43	10	.	.	ENST00000380184.1:c.951G>T	p.Gln317His	p.Q317H	ENST00000380184	NM_145053.4	317	caG/caT	0	1	1	UPI000066D8EC	0	NA	ENST00000380184		ENSG00000175518	28294		53	1.845		HGNC	p.Q317H		UBQLNL		SNV							ENST00000380184	protein_coding	getma.org/?cm=var&var=hg19,11,5536721,C,A&fts=all		hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF9,Low_complexity_(Seg):seg		Q/H		A	low	1215/2313		getma.org/?cm=msa&ty=f&p=UBQLN_HUMAN&rb=304&re=475&var=Q317H	tolerated(0.05)				YES	UBQLNL,missense_variant,p.Gln317His,ENST00000380184,NM_145053.4;HBG2,intron_variant,,ENST00000380259,;AC087380.14,downstream_gene_variant,,ENST00000411807,;							MODERATE	951/1428	Q317H	UBQLN_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000369531		CCDS31385.1			1	
KRT12	0	LGGM	GRCh37	17	39023369	39023369	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	29	10	.	.	ENST00000251643.4:c.70C>T	p.Gln24Ter	p.Q24*	ENST00000251643	NM_000223.3	24	Cag/Tag	0	1	1	UPI000012DAE4	0	NA	ENST00000251643		ENSG00000187242	6414		39	0		HGNC	p.Q24X		KRT12		SNV			1				ENST00000251643	protein_coding	getma.org/?cm=var&var=hg19,17,39023369,G,A&fts=all				Q/*		A	NA	94/1867		NA					YES	KRT12,stop_gained,p.Gln24Ter,ENST00000251643,NM_000223.3;RP5-1110E20.1,downstream_gene_variant,,ENST00000579136,;							HIGH	70/1485	Q24*	K1C12_HUMAN			Transcript			.	ENSP00000251643		CCDS11378.1			1	
MTTP	0	LGGM	GRCh37	4	100532389	100532389	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	51	10	.	.	ENST00000457717.1:c.1859A>G	p.Tyr620Cys	p.Y620C	ENST00000457717	NM_000253.2	620	tAc/tGc	0	1		UPI000012F826	0	NA	ENST00000265517		ENSG00000138823	7467		61	2.25		HGNC	p.Y620C		MTTP		SNV			1				ENST00000265517	protein_coding	getma.org/?cm=var&var=hg19,4,100532389,A,G&fts=all		PROSITE_profiles:PS51211,hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1		Y/C		G	medium	2062/4037		getma.org/?cm=msa&ty=f&p=MTP_HUMAN&rb=28&re=659&var=Y620C	tolerated(0.1)					MTTP,missense_variant,p.Tyr620Cys,ENST00000457717,NM_000253.2;MTTP,missense_variant,p.Tyr620Cys,ENST00000265517,;MTTP,missense_variant,p.Tyr647Cys,ENST00000511045,;RP11-766F14.1,intron_variant,,ENST00000508578,;							MODERATE	1859/2685	Y620C	MTP_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000265517		CCDS3651.1			1	
DNAH8	0	LGGM	GRCh37	6	38917273	38917273	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	83	10	.	.	ENST00000359357.3:c.11524G>A	p.Ala3842Thr	p.A3842T	ENST00000359357		3842	Gct/Act	0	1	1	UPI00003677EB	0	getma.org/pdb.php?prot=DYH8_HUMAN&from=3792&to=4488&var=A3842T	ENST00000359357		ENSG00000124721	2952		93	1.205		HGNC	p.A3806T		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38917273,G,A&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		A/T		A	low	11778/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=3792&re=4488&var=A3842T					YES	DNAH8,missense_variant,p.Ala4047Thr,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ala3842Thr,ENST00000359357,;DNAH8,missense_variant,p.Ala3806Thr,ENST00000441566,;DNAH8,missense_variant,p.Ala4059Thr,ENST00000449981,;RP1-207H1.3,intron_variant,,ENST00000416948,;							MODERATE	11524/13473	A3842T	DYH8_HUMAN			Transcript		benign(0.04)	.	ENSP00000352312					1	
DDX52	0	LGGM	GRCh37	17	35992184	35992184	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	79	11	.	.	ENST00000349699.2:c.562C>T	p.Pro188Ser	p.P188S	ENST00000349699	NM_007010.3	188	Cct/Tct	0	1	1	UPI0000046805	0	getma.org/pdb.php?prot=DDX52_HUMAN&from=67&to=188&var=P188S	ENST00000349699		ENSG00000141141	20038		90	3.055		HGNC	p.P188S		DDX52		SNV							ENST00000349699	protein_coding	getma.org/?cm=var&var=hg19,17,35992184,G,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51195,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF33,SMART_domains:SM00487		P/S		A	medium	606/6359		getma.org/?cm=msa&ty=f&p=DDX52_HUMAN&rb=67&re=188&var=P188S	deleterious(0)	A8MTP9_HUMAN			YES	DDX52,missense_variant,p.Pro188Ser,ENST00000349699,NM_007010.3;DDX52,missense_variant,p.Pro80Ser,ENST00000394367,;DDX52,3_prime_UTR_variant,,ENST00000488402,;DDX52,3_prime_UTR_variant,,ENST00000460080,;DDX52,3_prime_UTR_variant,,ENST00000587431,;DDX52,non_coding_transcript_exon_variant,,ENST00000592520,;DDX52,non_coding_transcript_exon_variant,,ENST00000491963,;							MODERATE	562/1800	P188S	DDX52_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000268854		CCDS11323.1			1	
GPATCH8	0	LGGM	GRCh37	17	42483293	42483293	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	79	11	.	.	ENST00000591680.1:c.619G>A	p.Glu207Lys	p.E207K	ENST00000591680	NM_001002909.2	207	Gaa/Aaa	0	1	1	UPI0000237985	0	NA	ENST00000591680		ENSG00000186566	29066		90	1.845		HGNC	p.E207K		GPATCH8		SNV							ENST00000591680	protein_coding	getma.org/?cm=var&var=hg19,17,42483293,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11		E/K		T	low	650/4692		getma.org/?cm=msa&ty=f&p=GPTC8_HUMAN&rb=164&re=363&var=E207K	deleterious(0.03)				YES	GPATCH8,missense_variant,p.Glu129Lys,ENST00000434000,;GPATCH8,missense_variant,p.Glu207Lys,ENST00000591680,NM_001002909.2;GPATCH8,missense_variant,p.Glu182Lys,ENST00000585614,;RN7SL258P,downstream_gene_variant,,ENST00000478664,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,3_prime_UTR_variant,,ENST00000590041,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;							MODERATE	619/4509	E207K	GPTC8_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000467556		CCDS32666.1			1	
GPR179	0	LGGM	GRCh37	17	36484883	36484883	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	85	11	.	.	ENST00000342292.4:c.4569A>G	p.Lys1523=	p.K1523=	ENST00000342292	NM_001004334.2	1523	aaA/aaG	0	1	1	UPI000041A9C2	0		ENST00000342292		ENSG00000188888	31371		96			HGNC	p.K1523K		GPR179		SNV			1				ENST00000342292	protein_coding			hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7		K		C		4590/7980							YES	GPR179,synonymous_variant,p.=,ENST00000342292,NM_001004334.2;GPR179,upstream_gene_variant,,ENST00000584976,;							LOW	4569/7104		GP179_HUMAN			Transcript			.	ENSP00000345060		CCDS42308.1			1	
FUBP3	0	LGGM	GRCh37	9	133491848	133491848	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	18	11	.	.	ENST00000319725.9:c.511G>A	p.Ala171Thr	p.A171T	ENST00000319725	NM_003934.1	171	Gca/Aca	0	1	1	UPI00001C1EAA	0	getma.org/pdb.php?prot=FUBP3_HUMAN&from=164&to=228&var=A171T	ENST00000319725		ENSG00000107164	4005		29	1.635		HGNC	p.A171T		FUBP3		SNV							ENST00000319725	protein_coding	getma.org/?cm=var&var=hg19,9,133491848,G,A&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF100,hmmpanther:PTHR10288,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		A/T		A	low	586/3124		getma.org/?cm=msa&ty=f&p=FUBP3_HUMAN&rb=164&re=228&var=A171T	deleterious(0)				YES	FUBP3,missense_variant,p.Ala171Thr,ENST00000319725,NM_003934.1;FUBP3,upstream_gene_variant,,ENST00000487406,;FUBP3,downstream_gene_variant,,ENST00000465949,;							MODERATE	511/1719	A171T	FUBP3_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000318177		CCDS43893.1			1	
ADH1B	0	LGGM	GRCh37	4	100232027	100232027	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	59	11	.	.	ENST00000305046.8:c.998T>C	p.Val333Ala	p.V333A	ENST00000305046		333	gTg/gCg	0	1	1	UPI00001699B5	0	getma.org/pdb.php?prot=ADH1B_HUMAN&from=203&to=335&var=V333A	ENST00000305046		ENSG00000196616	250		70	2.665		HGNC	p.V293A	COSM1538975	ADH1B		SNV			1			1	ENST00000394887	protein_coding	getma.org/?cm=var&var=hg19,4,100232027,A,G&fts=all		hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376,SMART_domains:SM00829,Superfamily_domains:SSF51735,Superfamily_domains:SSF50129		V/A		G	medium	1066/4072		getma.org/?cm=msa&ty=f&p=ADH1B_HUMAN&rb=203&re=335&var=V333A	deleterious(0.01)	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN			YES	ADH1B,missense_variant,p.Val333Ala,ENST00000305046,;ADH1B,missense_variant,p.Val293Ala,ENST00000394887,NM_000668.4,NM_001286650.1;ADH1B,3_prime_UTR_variant,,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;					1		MODERATE	998/1128	V333A	ADH1B_HUMAN			Transcript		possibly_damaging(0.643)	.	ENSP00000306606		CCDS34033.1			1	
WEE1	0	LGGM	GRCh37	11	9606861	9606861	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	94	11	.	.	ENST00000450114.2:c.1345G>A	p.Glu449Lys	p.E449K	ENST00000450114	NM_003390.3	449	Gaa/Aaa	0	1	1	UPI0000138EF4	0	getma.org/pdb.php?prot=WEE1_HUMAN&from=299&to=569&var=E449K	ENST00000450114		ENSG00000166483	12761		105	2.145		HGNC	p.E77K	COSM933648	WEE1		SNV						1	ENST00000524612	protein_coding	getma.org/?cm=var&var=hg19,11,9606861,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF72,hmmpanther:PTHR11042,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF037281,Superfamily_domains:SSF56112		E/K		A	medium	1598/2799		getma.org/?cm=msa&ty=f&p=WEE1_HUMAN&rb=299&re=569&var=E449K	deleterious(0.02)	E9PRU3_HUMAN			YES	WEE1,missense_variant,p.Glu235Lys,ENST00000299613,NM_001143976.1;WEE1,missense_variant,p.Glu449Lys,ENST00000450114,NM_003390.3;WEE1,missense_variant,p.Glu55Lys,ENST00000530712,;WEE1,missense_variant,p.Glu77Lys,ENST00000524612,;WEE1,upstream_gene_variant,,ENST00000527848,;RN7SL56P,downstream_gene_variant,,ENST00000470034,;WEE1,missense_variant,p.Glu65Lys,ENST00000530175,;WEE1,non_coding_transcript_exon_variant,,ENST00000532275,;WEE1,downstream_gene_variant,,ENST00000524549,;					1		MODERATE	1345/1941	E449K	WEE1_HUMAN			Transcript		possibly_damaging(0.615)	.	ENSP00000402084		CCDS7800.1			1	
SUPT6H	0	LGGM	GRCh37	17	27028074	27028074	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	68	12	.	.	ENST00000314616.6:c.4922G>A	p.Ser1641Asn	p.S1641N	ENST00000314616	NM_003170.3	1641	aGc/aAc	0	1	1	UPI000015FFA7	0	NA	ENST00000314616		ENSG00000109111	11470		80	1.59		HGNC	p.S1641N		SUPT6H		SNV							ENST00000314616	protein_coding	getma.org/?cm=var&var=hg19,17,27028074,G,A&fts=all		hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145,Low_complexity_(Seg):seg		S/N		A	low	5205/6518		getma.org/?cm=msa&ty=f&p=SPT6H_HUMAN&rb=1616&re=1726&var=S1641N	tolerated(0.52)	J3QS64_HUMAN			YES	SUPT6H,missense_variant,p.Ser1641Asn,ENST00000314616,NM_003170.3;SUPT6H,missense_variant,p.Ser1641Asn,ENST00000347486,;PROCA1,downstream_gene_variant,,ENST00000301039,NM_152465.1;PROCA1,downstream_gene_variant,,ENST00000439862,;PROCA1,downstream_gene_variant,,ENST00000415329,;PROCA1,downstream_gene_variant,,ENST00000581289,;PROCA1,downstream_gene_variant,,ENST00000579650,;PROCA1,downstream_gene_variant,,ENST00000584073,;PROCA1,downstream_gene_variant,,ENST00000422880,;PROCA1,downstream_gene_variant,,ENST00000578097,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000581510,;PROCA1,downstream_gene_variant,,ENST00000495203,;PROCA1,downstream_gene_variant,,ENST00000473751,;SUPT6H,downstream_gene_variant,,ENST00000583340,;SUPT6H,downstream_gene_variant,,ENST00000580471,;							MODERATE	4922/5181	S1641N	SPT6H_HUMAN			Transcript		benign(0.001)	.	ENSP00000319104		CCDS32596.1			1	
DNAJC3	0	LGGM	GRCh37	13	96375514	96375514	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	49	12	.	.	ENST00000602402.1:c.212A>G	p.Tyr71Cys	p.Y71C	ENST00000602402	NM_006260.4	71	tAt/tGt	0	1	1	UPI000006F088	0	getma.org/pdb.php?prot=DNJC3_HUMAN&from=35&to=102&var=Y71C	ENST00000602402		ENSG00000102580	9439		61	3.275		HGNC	p.Y71C		DNAJC3		SNV							ENST00000376795	protein_coding	getma.org/?cm=var&var=hg19,13,96375514,A,G&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		Y/C		G	medium	329/5591		getma.org/?cm=msa&ty=f&p=DNJC3_HUMAN&rb=35&re=102&var=Y71C	deleterious(0)	A8KA82_HUMAN			YES	DNAJC3,missense_variant,p.Tyr71Cys,ENST00000602402,NM_006260.4;DNAJC3,missense_variant,p.Tyr71Cys,ENST00000376795,;							MODERATE	212/1515	Y71C	DNJC3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000473631		CCDS9479.1			1	
CIT	0	LGGM	GRCh37	12	120148135	120148135	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	47	12	.	.	ENST00000392521.2:c.4992C>T	p.Ser1664=	p.S1664=	ENST00000392521	NM_001206999.1	1664	tcC/tcT	0	1		UPI00001908FD	0		ENST00000261833		ENSG00000122966	1985	8.64E-05	59			HGNC	p.S1622S	rs756557987	CIT		SNV							ENST00000261833	protein_coding			PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Pfam_domain:PF00780,PIRSF_domain:PIRSF038145,SMART_domains:SM00036		S		A		4919/8578								CIT,synonymous_variant,p.=,ENST00000392521,NM_001206999.1;CIT,synonymous_variant,p.=,ENST00000261833,NM_007174.2;CIT,synonymous_variant,p.=,ENST00000392520,;MIR1178,downstream_gene_variant,,ENST00000408396,;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,,ENST00000544800,;CIT,intron_variant,,ENST00000538073,;CIT,downstream_gene_variant,,ENST00000544588,;CIT,downstream_gene_variant,,ENST00000543239,;CIT,downstream_gene_variant,,ENST00000536008,;							LOW	4866/6084		CTRO_HUMAN			Transcript			.	ENSP00000261833	8.24E-06	CCDS9192.1			1	
SECISBP2L	0	LGGM	GRCh37	15	49301555	49301555	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	27	12	.	.	ENST00000559471.1:c.1885A>G	p.Ser629Gly	p.S629G	ENST00000559471	NM_001193489.1	629	Agt/Ggt	0	1	1	UPI00001C1F8B	0	NA	ENST00000559471		ENSG00000138593	28997		39	2.045		HGNC	p.S584G		SECISBP2L		SNV							ENST00000261847	protein_coding	getma.org/?cm=var&var=hg19,15,49301555,T,C&fts=all		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10		S/G		C	medium	2149/7176		getma.org/?cm=msa&ty=f&p=SBP2L_HUMAN&rb=524&re=701&var=S629G	deleterious(0.02)	J3KPI1_HUMAN			YES	SECISBP2L,missense_variant,p.Ser629Gly,ENST00000559471,NM_001193489.1;SECISBP2L,missense_variant,p.Ser584Gly,ENST00000261847,NM_014701.3;SECISBP2L,missense_variant,p.Ser391Gly,ENST00000380927,;SECISBP2L,downstream_gene_variant,,ENST00000559198,;							MODERATE	1885/3306	S629G	SBP2L_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000453854		CCDS53942.1			1	
TTC19	0	LGGM	GRCh37	17	15907557	15907557	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	38	12	.	.	ENST00000261647.5:c.562A>G	p.Ile188Val	p.I188V	ENST00000261647	NM_001271420.1	188	Atc/Gtc	0	1	1	UPI0000042226	0	NA	ENST00000261647		ENSG00000011295	26006		50	1.445		HGNC	p.I226V		TTC19		SNV			1				ENST00000486880	protein_coding	getma.org/?cm=var&var=hg19,17,15907557,A,G&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR13143,Superfamily_domains:SSF48452		I/V		G	low	1031/3002		getma.org/?cm=msa&ty=f&p=TTC19_HUMAN&rb=1&re=200&var=I188V	deleterious(0)				YES	TTC19,missense_variant,p.Ile188Val,ENST00000261647,NM_001271420.1,NM_017775.3;TTC19,missense_variant,p.Ile309Val,ENST00000486880,;ZSWIM7,upstream_gene_variant,,ENST00000399277,NM_001042697.1,NM_001042698.1;ZSWIM7,upstream_gene_variant,,ENST00000486655,;ZSWIM7,upstream_gene_variant,,ENST00000472495,;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;ZSWIM7,upstream_gene_variant,,ENST00000399280,;ZSWIM7,upstream_gene_variant,,ENST00000497719,;ZSWIM7,upstream_gene_variant,,ENST00000495825,;TTC19,3_prime_UTR_variant,,ENST00000475723,;TTC19,3_prime_UTR_variant,,ENST00000466729,;ZSWIM7,upstream_gene_variant,,ENST00000490395,;ZSWIM7,upstream_gene_variant,,ENST00000585208,;ZSWIM7,upstream_gene_variant,,ENST00000476496,;ZSWIM7,upstream_gene_variant,,ENST00000486706,;ZSWIM7,upstream_gene_variant,,ENST00000491631,;ZSWIM7,upstream_gene_variant,,ENST00000460315,;ZSWIM7,upstream_gene_variant,,ENST00000460252,;ZSWIM7,upstream_gene_variant,,ENST00000584519,;ZSWIM7,upstream_gene_variant,,ENST00000474716,;TTC19,downstream_gene_variant,,ENST00000470399,;ZSWIM7,upstream_gene_variant,,ENST00000579955,;TTC19,downstream_gene_variant,,ENST00000583704,;							MODERATE	562/1143	I188V	TTC19_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000261647		CCDS11174.2			1	
PCDH15	0	LGGM	GRCh37	10	55782765	55782765	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	54	13	.	.	ENST00000361849.3:c.2413T>C	p.Leu805=	p.L805=	ENST00000361849	NM_001142768.1	805	Ttg/Ctg	0	1		UPI000014083E	0		ENST00000320301		ENSG00000150275	14674		67			HGNC	p.L734L		PCDH15		SNV			1				ENST00000437009	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		G		2808/6845				A2A3D9_HUMAN				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,synonymous_variant,p.=,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,;							LOW	2413/5868		PCD15_HUMAN			Transcript			.	ENSP00000322604		CCDS7248.1			1	
ABCA13	0	LGGM	GRCh37	7	48412064	48412064	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	81	13	.	.	ENST00000435803.1:c.11103C>G	p.Asn3701Lys	p.N3701K	ENST00000435803	NM_152701.3	3701	aaC/aaG	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		94	1.67		HGNC	p.N3701K		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48412064,C,G&fts=all		Pfam_domain:PF12698,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		N/K		G	low	11127/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3303&re=3772&var=N3701K					YES	ABCA13,missense_variant,p.Asn3701Lys,ENST00000435803,NM_152701.3;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;ABCA13,upstream_gene_variant,,ENST00000453246,;							MODERATE	11103/15177	N3701K	ABCAD_HUMAN			Transcript		benign(0.393)	.	ENSP00000411096		CCDS47584.1			1	
KDM4D	0	LGGM	GRCh37	11	94731166	94731166	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	51	13	.	.	ENST00000335080.5:c.630A>G	p.Lys210=	p.K210=	ENST00000335080	NM_018039.2	210	aaA/aaG	0	1	1	UPI00001A82EC	0		ENST00000335080		ENSG00000186280	25498		64			HGNC	p.K210K		KDM4D		SNV							ENST00000536741	protein_coding			Superfamily_domains:SSF51197,SMART_domains:SM00558,Pfam_domain:PF02373,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF21,PROSITE_profiles:PS51184		K		G		1462/2978							YES	KDM4D,synonymous_variant,p.=,ENST00000335080,NM_018039.2;KDM4D,synonymous_variant,p.=,ENST00000536741,;							LOW	630/1572		KDM4D_HUMAN			Transcript			.	ENSP00000334181		CCDS8302.1			1	
CELSR2	0	LGGM	GRCh37	1	109816643	109816643	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	53	14	.	.	ENST00000271332.3:c.8745-1G>T		p.X2915_splice	ENST00000271332	NM_001408.2			0	1	1	UPI00000015B6	0		ENST00000271332		ENSG00000143126	3231		67			HGNC	-		CELSR2		SNV							ENST00000271332	protein_coding							T		-/10534							YES	CELSR2,splice_acceptor_variant,,ENST00000271332,NM_001408.2;CELSR2,splice_acceptor_variant,,ENST00000489018,;CELSR2,non_coding_transcript_exon_variant,,ENST00000498157,;							HIGH	8745/8772		CELR2_HUMAN			Transcript			.	ENSP00000271332		CCDS796.1			1	
HORMAD2	0	LGGM	GRCh37	22	30518156	30518156	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	65	14	.	.	ENST00000336726.6:c.772G>C	p.Ala258Pro	p.A258P	ENST00000336726	NM_152510.2	258	Gcc/Ccc	0	1	1	UPI000006EB31	0	NA	ENST00000336726		ENSG00000176635	28383		79	0.695		HGNC	p.A258P		HORMAD2		SNV							ENST00000336726	protein_coding	getma.org/?cm=var&var=hg19,22,30518156,G,C&fts=all		hmmpanther:PTHR21518:SF5,hmmpanther:PTHR21518		A/P		C	neutral	1127/2187		getma.org/?cm=msa&ty=f&p=HORM2_HUMAN&rb=229&re=307&var=A258P	tolerated(0.31)				YES	HORMAD2,missense_variant,p.Ala258Pro,ENST00000336726,NM_152510.2;HORMAD2,missense_variant,p.Ala258Pro,ENST00000403975,;HORMAD2,downstream_gene_variant,,ENST00000450612,;							MODERATE	772/924	A258P	HORM2_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000336984		CCDS46683.1			1	
ZC3H15	0	LGGM	GRCh37	2	187372175	187372175	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	79	14	.	.	ENST00000337859.6:c.1090+612A>G		*364*	ENST00000337859	NM_018471.2			0	1	1	UPI00000437CE	0		ENST00000337859		ENSG00000065548	29528		93			HGNC	p.I60V		ZC3H15		SNV							ENST00000445547	protein_coding							G		-/2138							YES	ZC3H15,missense_variant,p.Ile60Val,ENST00000445547,;ZC3H15,intron_variant,,ENST00000337859,NM_018471.2;ZC3H15,downstream_gene_variant,,ENST00000544130,;AC018867.2,upstream_gene_variant,,ENST00000595956,;ZC3H15,downstream_gene_variant,,ENST00000468120,;ZC3H15,downstream_gene_variant,,ENST00000481101,;ZC3H15,downstream_gene_variant,,ENST00000496289,;ZC3H15,intron_variant,,ENST00000498757,;ZC3H15,downstream_gene_variant,,ENST00000421536,;							MODIFIER	-/1281		ZC3HF_HUMAN			Transcript			.	ENSP00000338788		CCDS42791.1			1	
TCERG1	0	LGGM	GRCh37	5	145834695	145834695	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	93	14	.	.	ENST00000296702.5:c.136C>A	p.Leu46Met	p.L46M	ENST00000296702	NM_006706.3	46	Ctg/Atg	0	1	1	UPI000013E374	0	NA	ENST00000296702		ENSG00000113649	15630		107	0.895		HGNC	p.L46M		TCERG1		SNV							ENST00000296702	protein_coding	getma.org/?cm=var&var=hg19,5,145834695,C,A&fts=all		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF7,Low_complexity_(Seg):seg		L/M		A	low	174/4654		getma.org/?cm=msa&ty=f&p=TCRG1_HUMAN&rb=43&re=109&var=L46M	deleterious_low_confidence(0.03)				YES	TCERG1,missense_variant,p.Leu46Met,ENST00000296702,NM_006706.3;TCERG1,missense_variant,p.Leu46Met,ENST00000394421,NM_001040006.1;TCERG1,missense_variant,p.Leu46Met,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000507175,;TCERG1,upstream_gene_variant,,ENST00000513298,;							MODERATE	136/3297	L46M	TCRG1_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000296702		CCDS4282.1			1	
ZNF560	0	LGGM	GRCh37	19	9577567	9577567	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	74	15	.	.	ENST00000301480.4:c.2056T>A	p.Cys686Ser	p.C686S	ENST00000301480	NM_152476.2	686	Tgt/Agt	0	1	1	UPI000013E720	0	getma.org/pdb.php?prot=ZN560_HUMAN&from=668&to=725&var=C686S	ENST00000301480		ENSG00000198028	26484		89	3.835		HGNC	p.C686S		ZNF560		SNV							ENST00000301480	protein_coding	getma.org/?cm=var&var=hg19,19,9577567,A,T&fts=all		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF44,Superfamily_domains:SSF57667		C/S		T	high	2270/2654		getma.org/?cm=msa&ty=f&p=ZN560_HUMAN&rb=668&re=725&var=C686S	deleterious(0)				YES	ZNF560,missense_variant,p.Cys686Ser,ENST00000301480,NM_152476.2;ZNF560,downstream_gene_variant,,ENST00000585974,;							MODERATE	2056/2373	C686S	ZN560_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000301480		CCDS12214.1			1	
MAP4	0	LGGM	GRCh37	3	47951188	47951188	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	86	16	.	.	ENST00000360240.6:c.1999+5119C>G		*667*	ENST00000360240	NM_002375.4			0	1	1	UPI000020A6A4	0		ENST00000360240		ENSG00000047849	6862		102			HGNC	p.L1592V		MAP4		SNV							ENST00000426837	protein_coding							C		-/5142							YES	MAP4,missense_variant,p.Leu1592Val,ENST00000426837,;MAP4,missense_variant,p.Leu182Val,ENST00000264724,;MAP4,missense_variant,p.Leu182Val,ENST00000383736,;MAP4,intron_variant,,ENST00000395734,NM_001134364.1;MAP4,intron_variant,,ENST00000383737,;MAP4,intron_variant,,ENST00000360240,NM_002375.4;MAP4,upstream_gene_variant,,ENST00000429422,;MAP4,intron_variant,,ENST00000482752,;							MODIFIER	-/3459		MAP4_HUMAN			Transcript			.	ENSP00000353375		CCDS33750.1			1	
UACA	0	LGGM	GRCh37	15	70959179	70959179	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	87	16	.	.	ENST00000322954.6:c.3844A>G	p.Ile1282Val	p.I1282V	ENST00000322954	NM_018003.2	1282	Att/Gtt	0	1	1	UPI000006DCF3	0	NA	ENST00000322954		ENSG00000137831	15947		103	2.24		HGNC	p.I1267V		UACA		SNV							ENST00000560441	protein_coding	getma.org/?cm=var&var=hg19,15,70959179,T,C&fts=all		hmmpanther:PTHR24196,hmmpanther:PTHR24196:SF1		I/V		C	medium	4030/6939		getma.org/?cm=msa&ty=f&p=UACA_HUMAN&rb=886&re=1374&var=I1282V	tolerated(0.08)				YES	UACA,missense_variant,p.Ile1282Val,ENST00000322954,NM_018003.2;UACA,missense_variant,p.Ile1269Val,ENST00000379983,NM_001008224.1;UACA,missense_variant,p.Ile1267Val,ENST00000560441,;UACA,missense_variant,p.Ile1173Val,ENST00000539319,;UACA,downstream_gene_variant,,ENST00000558758,;UACA,upstream_gene_variant,,ENST00000560831,;UACA,downstream_gene_variant,,ENST00000559290,;							MODERATE	3844/4251	I1282V	UACA_HUMAN			Transcript		benign(0.103)	.	ENSP00000314556		CCDS10235.1			1	
GEN1	0	LGGM	GRCh37	2	17962642	17962642	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	81	17	.	.	ENST00000381254.2:c.2163G>C	p.Lys721Asn	p.K721N	ENST00000381254	NM_001130009.1	721	aaG/aaC	0	1		UPI00004113DA	0	NA	ENST00000317402		ENSG00000178295	26881		98	1.725		HGNC	p.K721N		GEN1		SNV							ENST00000317402	protein_coding	getma.org/?cm=var&var=hg19,2,17962642,G,C&fts=all		hmmpanther:PTHR11081:SF23,hmmpanther:PTHR11081		K/N		C	low	2288/5722		getma.org/?cm=msa&ty=f&p=GEN_HUMAN&rb=609&re=808&var=K721N	deleterious(0.01)	E9PM30_HUMAN,E9PLG0_HUMAN				GEN1,missense_variant,p.Lys721Asn,ENST00000381254,NM_001130009.1;GEN1,missense_variant,p.Lys721Asn,ENST00000317402,NM_182625.3;SMC6,intron_variant,,ENST00000402989,;SMC6,intron_variant,,ENST00000428868,;GEN1,downstream_gene_variant,,ENST00000528873,;							MODERATE	2163/2727	K721N	GEN_HUMAN			Transcript		benign(0.01)	.	ENSP00000318977		CCDS1691.1			1	
IGHV1-2	0	LGGM	GRCh37	14	106452942	106452942	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	79	17	.	.	ENST00000390594.2:c.80G>A	p.Gly27Glu	p.G27E	ENST00000390594		27	gGg/gAg	0	1	1	UPI0000115F95	0		ENST00000390594		ENSG00000211934	5550		96			HGNC	p.G27E		IGHV1-2		SNV							ENST00000390594	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726		G/E		T		144/415			deleterious(0.01)				YES	IGHV1-2,missense_variant,p.Gly27Glu,ENST00000390594,;							MODERATE	80/351					Transcript		possibly_damaging(0.619)	.	ENSP00000375003					1	
CEP192	0	LGGM	GRCh37	18	13073101	13073101	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	96	18	.	.	ENST00000506447.1:c.5533G>A	p.Ala1845Thr	p.A1845T	ENST00000506447	NM_032142.3	1845	Gca/Aca	0	1	1	UPI0001B09235	0	NA	ENST00000506447		ENSG00000101639	25515		114	1.83		HGNC	p.A1445T		CEP192		SNV							ENST00000510237	protein_coding	getma.org/?cm=var&var=hg19,18,13073101,G,A&fts=all		hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		A/T		A	low	5613/7960		getma.org/?cm=msa&ty=f&p=CE192_HUMAN&rb=6&re=1939&var=A1249T	tolerated(0.47)	E9PF99_HUMAN			YES	CEP192,missense_variant,p.Ala1845Thr,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Ala1249Thr,ENST00000325971,;CEP192,missense_variant,p.Ala1370Thr,ENST00000430049,;CEP192,missense_variant,p.Ala1384Thr,ENST00000511820,;CEP192,non_coding_transcript_exon_variant,,ENST00000507254,;CEP192,upstream_gene_variant,,ENST00000540847,;CEP192,missense_variant,p.Ala1445Thr,ENST00000510237,;CEP192,missense_variant,p.Ala393Thr,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;							MODERATE	5533/7614	A1249T				Transcript		benign(0.199)	.	ENSP00000427550		CCDS32792.2			1	
CFHR1	0	LGGM	GRCh37	1	196799734	196799734	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	30	18	.	.	ENST00000320493.5:c.712C>T	p.Gln238Ter	p.Q238*	ENST00000320493	NM_002113.2	238	Cag/Tag	0	1	1	UPI000013CCFE	0	NA	ENST00000320493		ENSG00000244414	4888		48	0		HGNC	p.Q238X		CFHR1		SNV			1				ENST00000320493	protein_coding	getma.org/?cm=var&var=hg19,1,196799734,C,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF325,SMART_domains:SM00032,Superfamily_domains:SSF57535		Q/*		T	NA	800/1271		NA		Q6LBM9_HUMAN			YES	CFHR1,stop_gained,p.Gln238Ter,ENST00000320493,NM_002113.2;CFHR1,stop_gained,p.Gln179Ter,ENST00000367424,;CFHR2,intron_variant,,ENST00000367421,;CFHR1,downstream_gene_variant,,ENST00000480960,;CFHR1,downstream_gene_variant,,ENST00000468079,;							HIGH	712/993	Q238*	FHR1_HUMAN			Transcript			.	ENSP00000314299		CCDS1386.1			1	
LAMB1	0	LGGM	GRCh37	7	107572693	107572693	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	82	18	.	.	ENST00000222399.6:c.4318G>A	p.Ala1440Thr	p.A1440T	ENST00000222399	NM_002291.2	1440	Gcc/Acc	0	1	1	UPI00001AE63F	0	NA	ENST00000222399	not_provided	ENSG00000091136	6486		100	2.375		HGNC	p.A1464T	rs267601228,COSM240457	LAMB1		SNV			1			1,1	ENST00000393561	protein_coding	getma.org/?cm=var&var=hg19,7,107572693,C,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233		A/T		T	medium	4549/5725		getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=1400&re=1576&var=A1440T	deleterious(0.04)	Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,missense_variant,p.Ala1464Thr,ENST00000393561,;LAMB1,missense_variant,p.Ala1440Thr,ENST00000222399,NM_002291.2;LAMB1,non_coding_transcript_exon_variant,,ENST00000474380,;LAMB1,non_coding_transcript_exon_variant,,ENST00000468518,;LAMB1,downstream_gene_variant,,ENST00000468999,;LAMB1,downstream_gene_variant,,ENST00000470995,;LAMB1,downstream_gene_variant,,ENST00000491196,;DLD,downstream_gene_variant,,ENST00000417551,;LAMB1,upstream_gene_variant,,ENST00000472714,;	0.000231				0,1		MODERATE	4318/5361	A1440T	LAMB1_HUMAN			Transcript		possibly_damaging(0.657)	.	ENSP00000222399	1.65E-05	CCDS5750.1			1	
STK31	0	LGGM	GRCh37	7	23826497	23826497	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	85	19	.	.	ENST00000355870.3:c.2441G>A	p.Arg814Lys	p.R814K	ENST00000355870	NM_031414.4	814	aGg/aAg	0	1	1	UPI0000167B73	0	getma.org/pdb.php?prot=STK31_HUMAN&from=793&to=966&var=R814K	ENST00000355870		ENSG00000196335	11407		104	0.79		HGNC	p.R814K		STK31		SNV							ENST00000433467	protein_coding	getma.org/?cm=var&var=hg19,7,23826497,G,A&fts=all		Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF0,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/K		A	neutral	2560/3326		getma.org/?cm=msa&ty=f&p=STK31_HUMAN&rb=793&re=966&var=R814K	tolerated(1)	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN			YES	STK31,missense_variant,p.Arg791Lys,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,missense_variant,p.Arg791Lys,ENST00000428484,;STK31,missense_variant,p.Arg814Lys,ENST00000355870,NM_031414.4;STK31,missense_variant,p.Arg814Lys,ENST00000433467,NM_001260505.1;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;							MODERATE	2441/3060	R814K	STK31_HUMAN			Transcript		benign(0.013)	.	ENSP00000348132		CCDS5386.1			1	
ARHGAP5	0	LGGM	GRCh37	14	32560888	32560888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	86	21	.	.	ENST00000345122.3:c.1013A>G	p.Tyr338Cys	p.Y338C	ENST00000345122	NM_001030055.1	338	tAt/tGt	0	1	1	UPI000057B85C	0	NA	ENST00000345122		ENSG00000100852	675		107	2.11		HGNC	p.Y338C		ARHGAP5		SNV							ENST00000345122	protein_coding	getma.org/?cm=var&var=hg19,14,32560888,A,G&fts=all		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF4		Y/C		G	medium	1328/9604		getma.org/?cm=msa&ty=f&p=RHG05_HUMAN&rb=249&re=448&var=Y338C	deleterious(0)	G3V5I7_HUMAN,G3V444_HUMAN,G3V360_HUMAN			YES	ARHGAP5,missense_variant,p.Tyr338Cys,ENST00000345122,NM_001030055.1;ARHGAP5,missense_variant,p.Tyr338Cys,ENST00000432921,NM_001173.2;ARHGAP5,missense_variant,p.Tyr338Cys,ENST00000539826,;ARHGAP5,missense_variant,p.Tyr338Cys,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,;							MODERATE	1013/4509	Y338C	RHG05_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000371897		CCDS32062.1			1	
OR4N4	0	LGGM	GRCh37	15	22382613	22382613	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	268	22	.	.	ENST00000328795.4:c.141C>T	p.Phe47=	p.F47=	ENST00000328795	NM_001005241.2	47	ttC/ttT	0	1	1	UPI0000041C1A	0		ENST00000328795		ENSG00000183706	15375		290			HGNC	p.F47F	COSM3886744	OR4N4		SNV						1	ENST00000328795	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF97,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		F		T		232/1126							YES	OR4N4,synonymous_variant,p.=,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,;					1		LOW	141/951		OR4N4_HUMAN			Transcript			.	ENSP00000332500		CCDS32173.1			1	
RALGAPA2	0	LGGM	GRCh37	20	20475814	20475814	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080854	H080854N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	115	23	.	.	ENST00000202677.7:c.5314A>G	p.Ile1772Val	p.I1772V	ENST00000202677	NM_020343.3	1772	Att/Gtt	0	1	1	UPI000040F987	0	getma.org/pdb.php?prot=RGPA2_HUMAN&from=1664&to=1843&var=I1772V	ENST00000202677		ENSG00000188559	16207		138	0.955		HGNC	p.I202V		RALGAPA2		SNV							ENST00000417022	protein_coding	getma.org/?cm=var&var=hg19,20,20475814,T,C&fts=all		PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2,Pfam_domain:PF02145,Superfamily_domains:0043732		I/V		C	low	5322/6152		getma.org/?cm=msa&ty=f&p=RGPA2_HUMAN&rb=1664&re=1843&var=I1772V	tolerated(0.05)				YES	RALGAPA2,missense_variant,p.Ile1589Val,ENST00000430436,;RALGAPA2,missense_variant,p.Ile1772Val,ENST00000202677,NM_020343.3;RALGAPA2,missense_variant,p.Ile183Val,ENST00000427175,;							MODERATE	5314/5622	I1772V	RGPA2_HUMAN			Transcript		possibly_damaging(0.625)	.	ENSP00000202677		CCDS46584.1			1	
TRBV11-1	0	LGGM	GRCh37	7	142223872	142223872	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080854	H080854N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	82	26	.	.	ENST00000390367.3:c.295C>T	p.Gln99Ter	p.Q99*	ENST00000390367		99	Cag/Tag	0	1	1	UPI0000115ABA	0		ENST00000390367		ENSG00000211720	12180		108			HGNC	p.Q99X		TRBV11-1		SNV							ENST00000390367	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF14,Gene3D:2.60.40.10,Pfam_domain:PF07686,Superfamily_domains:SSF48726		Q/*		A		312/364				A0A582_HUMAN			YES	TRBV11-1,stop_gained,p.Gln99Ter,ENST00000390367,;							HIGH	295/347					Transcript			.	ENSP00000374890					1	
FAT3	0	LGGM	GRCh37	11	92087199	92087199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	91	27	.	.	ENST00000298047.6:c.1921A>T	p.Asn641Tyr	p.N641Y	ENST00000298047		641	Aat/Tat	0	1	1	UPI000050B6C6	0	getma.org/pdb.php?prot=FAT3_HUMAN&from=579&to=681&var=N641Y	ENST00000298047		ENSG00000165323	23112		118	-1.085		HGNC	p.N641Y		FAT3		SNV							ENST00000541502	protein_coding	getma.org/?cm=var&var=hg19,11,92087199,A,T&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		N/Y		T	neutral	1938/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=579&re=681&var=N641Y		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Asn641Tyr,ENST00000298047,;FAT3,missense_variant,p.Asn641Tyr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Asn491Tyr,ENST00000525166,;FAT3,missense_variant,p.Asn641Tyr,ENST00000541502,;FAT3,upstream_gene_variant,,ENST00000528921,;							MODERATE	1921/13770	N641Y	FAT3_HUMAN			Transcript		benign(0.285)	.	ENSP00000298047					1	
CADPS2	0	LGGM	GRCh37	7	122261649	122261649	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	134	29	.	.	ENST00000449022.2:c.990G>A	p.Pro330=	p.P330=	ENST00000449022	NM_017954.10	330	ccG/ccA	0	1	1	UPI0000668808	0		ENST00000449022		ENSG00000081803	16018		163			HGNC	p.P330P		CADPS2		SNV							ENST00000449022	protein_coding			hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3		P		T		1010/4073				B3KNS2_HUMAN			YES	CADPS2,synonymous_variant,p.=,ENST00000334010,NM_001167940.1;CADPS2,synonymous_variant,p.=,ENST00000313070,;CADPS2,synonymous_variant,p.=,ENST00000412584,NM_001009571.3;CADPS2,synonymous_variant,p.=,ENST00000449022,NM_017954.10;CADPS2,upstream_gene_variant,,ENST00000397721,;							LOW	990/3891		CAPS2_HUMAN			Transcript			.	ENSP00000398481		CCDS55158.1			1	
OR14K1	0	LGGM	GRCh37	1	247902561	247902561	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	239	29	.	.	ENST00000283225.2:c.645C>A	p.Ser215=	p.S215=	ENST00000283225		215	tcC/tcA	0	1	1	UPI0000041CBA	0		ENST00000283225		ENSG00000153230	15025		268			HGNC	p.S215S		OR14K1		SNV							ENST00000283225	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		S		A		645/945							YES	OR14K1,synonymous_variant,p.=,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;							LOW	645/945		O14K1_HUMAN			Transcript			.	ENSP00000283225					1	
SAMD12	0	LGGM	GRCh37	8	119593100	119593100	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	14	39	.	.	ENST00000314727.4:c.46G>T	p.Asp16Tyr	p.D16Y	ENST00000314727	NM_207506.2	16	Gat/Tat	0	1	1	UPI000013F8F1	0	NA	ENST00000314727		ENSG00000177570	31750		53	0.805		HGNC	p.D16Y		SAMD12		SNV							ENST00000445741	protein_coding	getma.org/?cm=var&var=hg19,8,119593100,C,A&fts=all		hmmpanther:PTHR20843,hmmpanther:PTHR20843:SF2		D/Y		A	low	183/2172		getma.org/?cm=msa&ty=f&p=SAM12_HUMAN&rb=1&re=73&var=D16Y	deleterious_low_confidence(0)	E9PLP5_HUMAN			YES	SAMD12,missense_variant,p.Asp16Tyr,ENST00000409003,NM_001101676.1;SAMD12,missense_variant,p.Asp16Tyr,ENST00000314727,NM_207506.2;SAMD12,missense_variant,p.Asp13Tyr,ENST00000453675,;SAMD12,missense_variant,p.Asp8Tyr,ENST00000524796,;SAMD12,missense_variant,p.Asp16Tyr,ENST00000526328,;SAMD12,missense_variant,p.Asp31Tyr,ENST00000526765,;SAMD12,missense_variant,p.Asp16Tyr,ENST00000445741,;							MODERATE	46/606	D16Y	SAM12_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000314173		CCDS6325.1			1	
KIR2DL3	0	LGGM	GRCh37	19	55263938	55263938	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080854	H080854N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	213	40	.	.	ENST00000342376.3:c.993C>A	p.Ile331=	p.I331=	ENST00000342376	NM_015868.2	331	atC/atA	0	1	1	UPI000012DB1C	0		ENST00000342376		ENSG00000243772	6331		253			HGNC	p.I331I	rs745904711	KIR2DL3		SNV							ENST00000342376	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19		I		A		1024/1590	1.65E-05			M4NBK9_HUMAN,M4N692_HUMAN,E3NZD8_HUMAN,Q9UPI8_HUMAN,C6EVR7_HUMAN			YES	KIR2DL3,synonymous_variant,p.=,ENST00000342376,NM_015868.2;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,;KIR2DP1,upstream_gene_variant,,ENST00000415311,;							LOW	993/1026		KI2L3_HUMAN			Transcript			.	ENSP00000342215	8.77E-06	CCDS33107.1			1	
NEB	0	LGGM	GRCh37	2	152515616	152515616	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080854	H080854N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080854N.bam, H080854T.bam	Illumina HiSeq	177	44	.	.	ENST00000397345.3:c.6038T>C	p.Ile2013Thr	p.I2013T	ENST00000397345	NM_001164508.1	2013	aTt/aCt	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		221	2.305		HGNC	p.I2013T		NEB		SNV			1				ENST00000409198	protein_coding	getma.org/?cm=var&var=hg19,2,152515616,A,G&fts=all		Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		I/T		G	medium	6186/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=1989&re=2057&var=I2013T		J3QK84_HUMAN				NEB,missense_variant,p.Ile2013Thr,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Ile2013Thr,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Ile2013Thr,ENST00000604864,;NEB,missense_variant,p.Ile2013Thr,ENST00000603639,;NEB,missense_variant,p.Ile2013Thr,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Ile2013Thr,ENST00000172853,;							MODERATE	6038/20010	I2013T				Transcript		benign(0.197)	.	ENSP00000172853					1	
PLXNA1	0	LGGM	GRCh37	3	126737165	126737165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	5	2	.	.	ENST00000393409.2:c.3689C>A	p.Pro1230Gln	p.P1230Q	ENST00000393409	NM_032242.3	1230	cCa/cAa	0	1	1	UPI00001A7983	0	NA	ENST00000393409		ENSG00000114554	9099		7	3		HGNC	p.P1230Q		PLXNA1		SNV							ENST00000393409	protein_coding	getma.org/?cm=var&var=hg19,3,126737165,C,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296		P/Q		A	medium	3689/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=1150&re=1237&var=P1230Q	tolerated(0.06)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Pro1207Gln,ENST00000251772,;PLXNA1,missense_variant,p.Pro1230Gln,ENST00000393409,NM_032242.3;							MODERATE	3689/5691	P1230Q	PLXA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377061		CCDS33847.2			1	
FCGBP	0	LGGM	GRCh37	19	40421186	40421186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	14	2	.	.	ENST00000221347.6:c.2735G>T	p.Arg912Leu	p.R912L	ENST00000221347	NM_003890.2	912	cGg/cTg	0	1	1	UPI00001B0455	0	NA	ENST00000221347		ENSG00000090920	13572		16	2.015		HGNC	p.R912L		FCGBP		SNV							ENST00000221347	protein_coding	getma.org/?cm=var&var=hg19,19,40421186,C,A&fts=all		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216		R/L		A	medium	2743/16390		getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=864&re=1020&var=R912L					YES	FCGBP,missense_variant,p.Arg912Leu,ENST00000221347,NM_003890.2;							MODERATE	2735/16218	R912L	FCGBP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000221347		CCDS12546.1			1	
FAM205A	0	LGGM	GRCh37	9	34724018	34724018	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	22	3	.	.	ENST00000378788.3:c.3219A>G	p.Arg1073=	p.R1073=	ENST00000378788	NM_001141917.1	1073	agA/agG	0	1	1	UPI00017EE92B	0		ENST00000378788		ENSG00000205108	41911		25			HGNC	p.R1073R		FAM205A		SNV							ENST00000378788	protein_coding			hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF4		R		C		3259/4225							YES	FAM205A,synonymous_variant,p.=,ENST00000378788,NM_001141917.1;							LOW	3219/4008		F205A_HUMAN			Transcript			.	ENSP00000417711		CCDS55305.1			1	
WFIKKN2	0	LGGM	GRCh37	17	48917584	48917584	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	35	3	.	.	ENST00000311378.4:c.935C>T	p.Ala312Val	p.A312V	ENST00000311378	NM_175575.5	312	gCc/gTc	0	1	1	UPI000004139B	0	NA	ENST00000311378		ENSG00000173714	30916		38	1.24		HGNC	p.A219V	COSM706869	WFIKKN2		SNV						1	ENST00000426127	protein_coding	getma.org/?cm=var&var=hg19,17,48917584,C,T&fts=all		hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF183		A/V		T	low	1463/3588		getma.org/?cm=msa&ty=f&p=WFKN2_HUMAN&rb=275&re=356&var=A312V	tolerated(0.32)	C9J6G4_HUMAN			YES	WFIKKN2,missense_variant,p.Ala312Val,ENST00000311378,NM_175575.5;WFIKKN2,missense_variant,p.Ala219Val,ENST00000426127,;RP11-506D12.5,non_coding_transcript_exon_variant,,ENST00000572491,;					1		MODERATE	935/1731	A312V	WFKN2_HUMAN			Transcript		benign(0.001)	.	ENSP00000311184		CCDS11575.1			1	
CDKN2A	0	LGGM	GRCh37	9	21970998	21970998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	13	3	.	.	ENST00000304494.5:c.360G>T	p.Glu120Asp	p.E120D	ENST00000304494	NM_000077.4	120	gaG/gaT	0	1		UPI0000047FDA	0	getma.org/pdb.php?prot=CD2A1_HUMAN&from=44&to=156&var=E120D	ENST00000304494		ENSG00000147889	1787		16	0.675		HGNC	p.E69D	rs757308315	CDKN2A		SNV			1				ENST00000479692	protein_coding	getma.org/?cm=var&var=hg19,9,21970998,C,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403		E/D		A	neutral	631/1218	1.58E-05	getma.org/?cm=msa&ty=f&p=CD2A1_HUMAN&rb=44&re=156&var=E120D	tolerated(0.05)	Q9UPB7_HUMAN,K7PML8_HUMAN				CDKN2A,missense_variant,p.Glu120Asp,ENST00000304494,NM_000077.4;CDKN2A,missense_variant,p.Glu69Asp,ENST00000494262,;CDKN2A,missense_variant,p.Glu69Asp,ENST00000498628,;CDKN2A,missense_variant,p.Glu120Asp,ENST00000498124,NM_001195132.1;CDKN2A,missense_variant,p.Glu120Asp,ENST00000446177,;CDKN2A,missense_variant,p.Glu69Asp,ENST00000578845,;CDKN2A,missense_variant,p.Glu120Asp,ENST00000579122,;CDKN2A,missense_variant,p.Glu69Asp,ENST00000497750,;CDKN2A,missense_variant,p.Glu69Asp,ENST00000479692,;CDKN2A,3_prime_UTR_variant,,ENST00000579755,;CDKN2A,3_prime_UTR_variant,,ENST00000361570,NM_058195.3;CDKN2A,3_prime_UTR_variant,,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,;							MODERATE	360/471	E120D	CD2A1_HUMAN			Transcript		benign(0.042)	.	ENSP00000307101	8.25E-06	CCDS6510.1			1	
PRKAA1	0	LGGM	GRCh37	5	40777653	40777653	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	31	3	.	.	ENST00000354209.3:c.163G>T	p.Val55Leu	p.V55L	ENST00000354209		55	Gtg/Ttg	0	1		UPI000020C9F6	0	getma.org/pdb.php?prot=AAPK1_HUMAN&from=27&to=279&var=V55L	ENST00000397128		ENSG00000132356	9376		34	0.045		HGNC	p.V55L		PRKAA1		SNV							ENST00000397128	protein_coding	getma.org/?cm=var&var=hg19,5,40777653,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF81,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/L		A	neutral	172/5088		getma.org/?cm=msa&ty=f&p=AAPK1_HUMAN&rb=27&re=279&var=V55L	tolerated(0.11)					PRKAA1,missense_variant,p.Val55Leu,ENST00000397128,NM_006251.5,NM_206907.3;PRKAA1,missense_variant,p.Val55Leu,ENST00000354209,;PRKAA1,missense_variant,p.Val46Leu,ENST00000296800,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000506652,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000509874,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000511248,;PRKAA1,non_coding_transcript_exon_variant,,ENST00000397006,;							MODERATE	163/1680	V55L	AAPK1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000380317		CCDS3932.2			1	
MARCO	0	LGGM	GRCh37	2	119735068	119735068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	30	3	.	.	ENST00000327097.4:c.635C>A	p.Ala212Asp	p.A212D	ENST00000327097	NM_006770.3	212	gCt/gAt	0	1	1	UPI0000000DF8	0	getma.org/pdb.php?prot=MARCO_HUMAN&from=178&to=258&var=A212D	ENST00000327097		ENSG00000019169	6895		33	0.525		HGNC	p.A212D		MARCO		SNV							ENST00000410021	protein_coding	getma.org/?cm=var&var=hg19,2,119735068,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021,Pfam_domain:PF01391		A/D		A	neutral	770/1838		getma.org/?cm=msa&ty=f&p=MARCO_HUMAN&rb=178&re=258&var=A212D	tolerated(0.49)	Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN			YES	MARCO,missense_variant,p.Ala134Asp,ENST00000541757,;MARCO,missense_variant,p.Ala212Asp,ENST00000327097,NM_006770.3;							MODERATE	635/1563	A212D	MARCO_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000318916		CCDS2124.1			1	
STAT5A	0	LGGM	GRCh37	17	40458407	40458407	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	27	3	.	.	ENST00000345506.4:c.1622G>A	p.Ser541Asn	p.S541N	ENST00000345506	NM_003152.3	541	aGc/aAc	0	1	1	UPI0000136075	0	getma.org/pdb.php?prot=STA5A_HUMAN&from=332&to=583&var=S541N	ENST00000345506		ENSG00000126561	11366		30	0.465		HGNC	p.S510N		STAT5A		SNV							ENST00000588868	protein_coding	getma.org/?cm=var&var=hg19,17,40458407,G,A&fts=all		hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:1.10.238.10,Superfamily_domains:SSF49417		S/N		A	neutral	2264/4301		getma.org/?cm=msa&ty=f&p=STA5A_HUMAN&rb=332&re=583&var=S541N	tolerated(0.25)	K7EIF9_HUMAN,C9JVV6_HUMAN			YES	STAT5A,missense_variant,p.Ser541Asn,ENST00000345506,NM_003152.3,NM_001288718.1;STAT5A,missense_variant,p.Ser541Asn,ENST00000452307,;STAT5A,missense_variant,p.Ser510Asn,ENST00000588868,NM_001288720.1;STAT5A,missense_variant,p.Ser541Asn,ENST00000590949,;STAT5A,missense_variant,p.Ser511Asn,ENST00000546010,;STAT5A,missense_variant,p.Ser29Asn,ENST00000587646,;STAT5A,non_coding_transcript_exon_variant,,ENST00000591556,;STAT5A,non_coding_transcript_exon_variant,,ENST00000468096,;STAT5A,downstream_gene_variant,,ENST00000479417,;							MODERATE	1622/2385	S541N	STA5A_HUMAN			Transcript		benign(0)	.	ENSP00000341208		CCDS11424.1			1	
ANKRD11	0	LGGM	GRCh37	16	89367279	89367279	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	16	3	.	.	ENST00000301030.4:c.226+4335A>T		*76*	ENST00000301030	NM_001256183.1			0	1	1	UPI00004569E1	0		ENST00000301030		ENSG00000167522	21316		19			HGNC	p.G106G		ANKRD11		SNV			1				ENST00000563291	protein_coding							A		-/9301							YES	ANKRD11,synonymous_variant,p.=,ENST00000563291,;ANKRD11,intron_variant,,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,intron_variant,,ENST00000378330,NM_001256182.1;AC137932.5,downstream_gene_variant,,ENST00000563087,;AC137932.5,downstream_gene_variant,,ENST00000564394,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000567736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000568924,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000566858,;ANKRD11,intron_variant,,ENST00000562816,;ANKRD11,downstream_gene_variant,,ENST00000567699,;ANKRD11,intron_variant,,ENST00000330736,;ANKRD11,intron_variant,,ENST00000562275,;ANKRD11,intron_variant,,ENST00000378332,;ANKRD11,intron_variant,,ENST00000564553,;							MODIFIER	-/7992		ANR11_HUMAN			Transcript			.	ENSP00000301030		CCDS32513.1			1	
COL5A3	0	LGGM	GRCh37	19	10107155	10107155	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	17	3	.	.	ENST00000264828.3:c.1376T>C	p.Val459Ala	p.V459A	ENST00000264828	NM_015719.3	459	gTc/gCc	0	1	1	UPI00002032A3	0	NA	ENST00000264828		ENSG00000080573	14864		20	1.525		HGNC	p.V459A		COL5A3		SNV							ENST00000264828	protein_coding	getma.org/?cm=var&var=hg19,19,10107155,A,G&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400		V/A		G	low	1462/6174		getma.org/?cm=msa&ty=f&p=CO5A3_HUMAN&rb=443&re=475&var=V459A					YES	COL5A3,missense_variant,p.Val459Ala,ENST00000264828,NM_015719.3;CTD-2553C6.1,non_coding_transcript_exon_variant,,ENST00000592332,;							MODERATE	1376/5238	V459A	CO5A3_HUMAN			Transcript		unknown(0)	.	ENSP00000264828		CCDS12222.1			1	
RBM15	0	LGGM	GRCh37	1	110882068	110882068	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	7	3	.	.	ENST00000369784.3:c.41C>G	p.Pro14Arg	p.P14R	ENST00000369784	NM_022768.4	14	cCa/cGa	0	1	1	UPI000013E1C5	0	NA	ENST00000369784		ENSG00000162775	14959		10	0.345		HGNC	p.P14R		RBM15		SNV			1				ENST00000369784	protein_coding	getma.org/?cm=var&var=hg19,1,110882068,C,G&fts=all		hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF43		P/R		G	neutral	941/4244		getma.org/?cm=msa&ty=f&p=RBM15_HUMAN&rb=1&re=159&var=P14R	deleterious_low_confidence(0)				YES	RBM15,missense_variant,p.Pro14Arg,ENST00000369784,NM_022768.4;RBM15,missense_variant,p.Pro14Arg,ENST00000602849,;RBM15,missense_variant,p.Pro14Arg,ENST00000487146,NM_001201545.1;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;							MODERATE	41/2934	P14R	RBM15_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000358799		CCDS822.1			1	
MID1	0	LGGM	GRCh37	X	10534965	10534965	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	22	3	.	.	ENST00000317552.4:c.623A>T	p.Gln208Leu	p.Q208L	ENST00000317552	NM_033289.1	208	cAg/cTg	0	1	1	UPI000012F0E6	0	getma.org/pdb.php?prot=TRI18_HUMAN&from=171&to=212&var=Q208L	ENST00000317552		ENSG00000101871	7095		25	2.73		HGNC	p.Q208L		MID1		SNV			1				ENST00000317552	protein_coding	getma.org/?cm=var&var=hg19,X,10534965,T,A&fts=all		Superfamily_domains:SSF57845,SMART_domains:SM00336,Pfam_domain:PF00643,Gene3D:1freA00,hmmpanther:PTHR24103:SF26,hmmpanther:PTHR24103,PROSITE_profiles:PS50119		Q/L		A	medium	1024/6463		getma.org/?cm=msa&ty=f&p=TRI18_HUMAN&rb=171&re=212&var=Q208L	deleterious(0.02)	C9JZJ7_HUMAN,C9J453_HUMAN			YES	MID1,missense_variant,p.Gln208Leu,ENST00000317552,NM_033289.1,NM_000381.3;MID1,missense_variant,p.Gln208Leu,ENST00000453318,NM_001098624.2;MID1,missense_variant,p.Gln208Leu,ENST00000380780,;MID1,missense_variant,p.Gln208Leu,ENST00000380785,;MID1,missense_variant,p.Gln208Leu,ENST00000380779,NM_001193277.1;MID1,missense_variant,p.Gln208Leu,ENST00000380787,NM_033290.3;MID1,missense_variant,p.Gln208Leu,ENST00000380782,;MID1,missense_variant,p.Gln208Leu,ENST00000413894,;MID1,downstream_gene_variant,,ENST00000423614,;							MODERATE	623/2004	Q208L	TRI18_HUMAN			Transcript		benign(0.257)	.	ENSP00000312678		CCDS14138.1			1	
ATP10A	0	LGGM	GRCh37	15	25940067	25940067	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	23	4	.	.	ENST00000356865.6:c.2987A>G	p.Lys996Arg	p.K996R	ENST00000356865	NM_024490.3	996	aAg/aGg	0	1	1	UPI0000124FAB	0	getma.org/pdb.php?prot=AT10A_HUMAN&from=424&to=1040&var=K996R	ENST00000356865		ENSG00000206190	13542		27	0.345		HGNC	p.K996R		ATP10A		SNV			1				ENST00000356865	protein_coding	getma.org/?cm=var&var=hg19,15,25940067,T,C&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784		K/R		C	neutral	3099/6680		getma.org/?cm=msa&ty=f&p=AT10A_HUMAN&rb=424&re=1040&var=K996R	tolerated(0.68)				YES	ATP10A,missense_variant,p.Lys996Arg,ENST00000356865,NM_024490.3;ATP10A,upstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;							MODERATE	2987/4500	K996R	AT10A_HUMAN			Transcript		benign(0.003)	.	ENSP00000349325		CCDS32178.1			1	
SCN7A	0	LGGM	GRCh37	2	167269102	167269102	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	24	4	.	.	ENST00000409855.1:c.3544T>G	p.Phe1182Val	p.F1182V	ENST00000409855	NM_002976.3	1182	Ttt/Gtt	0	1	1	UPI0000209019	0	getma.org/pdb.php?prot=SCN7A_HUMAN&from=970&to=1192&var=F1182V	ENST00000409855		ENSG00000136546	10594		28	3.545		HGNC	p.F1182V		SCN7A		SNV							ENST00000409855	protein_coding	getma.org/?cm=var&var=hg19,2,167269102,A,C&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		F/V		C	high	3671/7183		getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=970&re=1192&var=F1182V	deleterious(0)	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN			YES	SCN7A,missense_variant,p.Phe1182Val,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;							MODERATE	3544/5049	F1182V	SCN7A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386796		CCDS46442.1			1	
PRKRIR	0	LGGM	GRCh37	11	76076908	76076908	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	67	4	.	.	ENST00000260045.3:c.198G>C	p.Met66Ile	p.M66I	ENST00000260045	NM_004705.2	66	atG/atC	0	1	1	UPI0000131030	0	getma.org/pdb.php?prot=P52K_HUMAN&from=3&to=92&var=M66I	ENST00000260045		ENSG00000137492	9440		71	2.14		HGNC	p.M66I		PRKRIR		SNV							ENST00000260045	protein_coding	getma.org/?cm=var&var=hg19,11,76076908,C,G&fts=all		PROSITE_profiles:PS50950,hmmpanther:PTHR11697:SF10,hmmpanther:PTHR11697,Pfam_domain:PF05485,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716		M/I		G	medium	304/3300		getma.org/?cm=msa&ty=f&p=P52K_HUMAN&rb=3&re=92&var=M66I	tolerated(0.12)	B4DS64_HUMAN			YES	PRKRIR,missense_variant,p.Met66Ile,ENST00000260045,NM_004705.2;PRKRIR,non_coding_transcript_exon_variant,,ENST00000531878,;PRKRIR,missense_variant,p.Met66Ile,ENST00000528993,;PRKRIR,upstream_gene_variant,,ENST00000525277,;							MODERATE	198/2286	M66I	P52K_HUMAN			Transcript		benign(0.021)	.	ENSP00000260045		CCDS8243.1			1	
CXCL12	0	LGGM	GRCh37	10	44876302	44876302	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	87	4	.	.	ENST00000395794.2:c.88T>A	p.Cys30Ser	p.C30S	ENST00000395794	NM_001178134.1	30	Tgc/Agc	0	1		UPI000003092F	0		ENST00000374429		ENSG00000107562	10672		91			HGNC	p.C30S		CXCL12		SNV							ENST00000395794	protein_coding			Gene3D:2.40.50.40,Pfam_domain:PF00048,Prints_domain:PR00436,hmmpanther:PTHR18837,hmmpanther:PTHR18837:SF3,SMART_domains:SM00199,Superfamily_domains:SSF54117		C/S		T		175/3532			deleterious(0)					CXCL12,missense_variant,p.Cys30Ser,ENST00000374429,NM_000609.6;CXCL12,missense_variant,p.Cys30Ser,ENST00000343575,NM_199168.3;CXCL12,missense_variant,p.Cys30Ser,ENST00000395794,NM_001178134.1;CXCL12,missense_variant,p.Cys30Ser,ENST00000395793,NM_001277990.1;CXCL12,missense_variant,p.Cys30Ser,ENST00000395795,;CXCL12,missense_variant,p.Cys30Ser,ENST00000374426,NM_001033886.2;AL137026.1,intron_variant,,ENST00000593376,;CXCL12,non_coding_transcript_exon_variant,,ENST00000496375,;CXCL12,non_coding_transcript_exon_variant,,ENST00000488591,;							MODERATE	88/282		SDF1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363551		CCDS44373.1			1	
ACPL2	0	LGGM	GRCh37	3	141011996	141011996	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	26	4	.	.	ENST00000286353.4:c.1392G>T	p.Leu464=	p.L464=	ENST00000286353	NM_001037172.1	464	ctG/ctT	0	1	1	UPI0000048EC7	0		ENST00000286353		ENSG00000155893	26303		30			HGNC	p.L448L	rs754091553	ACPL2		SNV				0.000102			ENST00000393007	protein_coding			hmmpanther:PTHR11567:SF110,hmmpanther:PTHR11567,Superfamily_domains:SSF53254		L		T		1529/3281				D6RGE3_HUMAN,D6RE60_HUMAN,D6RDP0_HUMAN,D6R928_HUMAN,B7Z4T2_HUMAN			YES	ACPL2,synonymous_variant,p.=,ENST00000508812,;ACPL2,synonymous_variant,p.=,ENST00000286353,NM_001037172.1;ACPL2,synonymous_variant,p.=,ENST00000393010,NM_152282.3;ACPL2,synonymous_variant,p.=,ENST00000393007,;ACPL2,synonymous_variant,p.=,ENST00000502783,NM_001282728.1;ACPL2,synonymous_variant,p.=,ENST00000504264,;RP11-438D8.2,intron_variant,,ENST00000507698,;ACPL2,downstream_gene_variant,,ENST00000514263,;ACPL2,downstream_gene_variant,,ENST00000514880,;							LOW	1392/1443		ACPL2_HUMAN			Transcript			.	ENSP00000286353	8.24E-06	CCDS3116.1			1	
DNAH11	0	LGGM	GRCh37	7	21923982	21923982	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	96	4	.	.	ENST00000328843.6:c.12482G>A	p.Arg4161His	p.R4161H	ENST00000328843		4161	cGc/cAc	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		100			HGNC	p.R4161H	rs375799557,COSM1088455,COSM3880194	DNAH11		SNV	A:0		1			0,1,1	ENST00000328843	protein_coding			Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		R/H	A:0.0001	A		12492/14167	1.50E-05		deleterious(0.01)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Arg4161His,ENST00000328843,;DNAH11,missense_variant,p.Arg4154His,ENST00000409508,NM_001277115.1;					0,1,1		MODERATE	12461/13551					Transcript		probably_damaging(1)	.	ENSP00000475939	1.65E-05	CCDS64602.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	34	12	.	.	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32G	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		46	2.46		HGNC	p.D32G	rs121913396,COSM5681	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266098,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/G		G	medium	375/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32G	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	95/2346	D32G	CTNB1_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000344456		CCDS2694.1			1	
EHBP1L1	0	LGGM	GRCh37	11	65351124	65351124	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	8	5	.	.	ENST00000309295.4:c.2981T>A	p.Leu994His	p.L994H	ENST00000309295	NM_001099409.1	994	cTc/cAc	0	1	1	UPI00001605A9	0	NA	ENST00000309295		ENSG00000173442	30682		13	1.04		HGNC	p.L994H		EHBP1L1		SNV							ENST00000309295	protein_coding	getma.org/?cm=var&var=hg19,11,65351124,T,A&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF112		L/H		A	low	3246/5185		getma.org/?cm=msa&ty=f&p=EH1L1_HUMAN&rb=201&re=1029&var=L994H	deleterious(0.02)				YES	EHBP1L1,missense_variant,p.Leu994His,ENST00000309295,NM_001099409.1;EHBP1L1,missense_variant,p.Leu44His,ENST00000533465,;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;							MODERATE	2981/4572	L994H	EH1L1_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000312671		CCDS44649.1			1	
NDUFAF2	0	LGGM	GRCh37	5	60448731	60448731	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	14	5	.	.	ENST00000296597.5:c.459C>A	p.Thr153=	p.T153=	ENST00000296597	NM_174889.4	153	acC/acA	0	1	1	UPI000006D648	0		ENST00000296597		ENSG00000164182	28086		19			HGNC	p.T153T		NDUFAF2		SNV			1				ENST00000296597	protein_coding			hmmpanther:PTHR32470,hmmpanther:PTHR32470:SF2		T		A		586/708							YES	NDUFAF2,synonymous_variant,p.=,ENST00000296597,NM_174889.4;NDUFAF2,3_prime_UTR_variant,,ENST00000511107,;NDUFAF2,3_prime_UTR_variant,,ENST00000502658,;SMIM15,downstream_gene_variant,,ENST00000339020,NM_001048249.3;NDUFAF2,non_coding_transcript_exon_variant,,ENST00000512623,;							LOW	459/510		MIMIT_HUMAN			Transcript			.	ENSP00000296597		CCDS3979.1			1	
GTF2E2	0	LGGM	GRCh37	8	30492631	30492631	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	14	5	.	.	ENST00000355904.4:c.176A>C	p.Asn59Thr	p.N59T	ENST00000355904	NM_002095.4	59	aAt/aCt	0	1	1	UPI00001367F4	0	NA	ENST00000355904		ENSG00000197265	4651		19	2.08		HGNC	p.N59T		GTF2E2		SNV							ENST00000518599	protein_coding	getma.org/?cm=var&var=hg19,8,30492631,T,G&fts=all		PIRSF_domain:PIRSF016398,hmmpanther:PTHR12716,hmmpanther:PTHR12716:SF8		N/T		G	medium	459/1762		getma.org/?cm=msa&ty=f&p=T2EB_HUMAN&rb=1&re=71&var=N59T	tolerated(0.22)	E5RIW4_HUMAN,E5RH41_HUMAN			YES	GTF2E2,missense_variant,p.Asn59Thr,ENST00000355904,NM_002095.4;GTF2E2,missense_variant,p.Asn59Thr,ENST00000518599,;GTF2E2,missense_variant,p.Asn59Thr,ENST00000518445,;SMIM18,upstream_gene_variant,,ENST00000517349,NM_001206847.1;GTF2E2,3_prime_UTR_variant,,ENST00000523499,;							MODERATE	176/876	N59T	T2EB_HUMAN			Transcript		benign(0.007)	.	ENSP00000348168		CCDS6078.1			1	
RALGAPA1	0	LGGM	GRCh37	14	36207770	36207770	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	38	5	.	.	ENST00000307138.6:c.1536T>A	p.Ser512=	p.S512=	ENST00000307138	NM_194301.2	512	tcT/tcA	0	1		UPI00003B5C50	0		ENST00000389698		ENSG00000174373	17770		43			HGNC	p.S512S	rs762256160	RALGAPA1		SNV							ENST00000382366	protein_coding			hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3		S		T		1927/7864	1.50E-05			Q9H984_HUMAN				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,non_coding_transcript_exon_variant,,ENST00000557069,;							LOW	1536/6111		RGPA1_HUMAN			Transcript			.	ENSP00000374348	8.24E-06	CCDS32065.1			1	
GATAD2A	0	LGGM	GRCh37	19	19613250	19613250	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	53	5	.	.	ENST00000360315.3:c.1686C>T	p.Ser562=	p.S562=	ENST00000360315	NM_017660.3	562	agC/agT	0	1		UPI000000D88C	0		ENST00000358713		ENSG00000167491	29989		58			HGNC	p.S562S		GATAD2A		SNV							ENST00000360315	protein_coding			hmmpanther:PTHR13455,hmmpanther:PTHR13455:SF3		S		T		1841/5510				C9JVY3_HUMAN,C9JMI3_HUMAN,C9JJK9_HUMAN,C9JHD7_HUMAN,C9JGN4_HUMAN				GATAD2A,synonymous_variant,p.=,ENST00000404158,;GATAD2A,synonymous_variant,p.=,ENST00000360315,NM_017660.3;GATAD2A,synonymous_variant,p.=,ENST00000252577,;GATAD2A,synonymous_variant,p.=,ENST00000358713,;GATAD2A,synonymous_variant,p.=,ENST00000429563,;GATAD2A,synonymous_variant,p.=,ENST00000537887,;GATAD2A,3_prime_UTR_variant,,ENST00000418032,;GATAD2A,3_prime_UTR_variant,,ENST00000609040,;							LOW	1686/1902		P66A_HUMAN			Transcript			.	ENSP00000351552		CCDS12402.2			1	
TSPO2	0	LGGM	GRCh37	6	41011863	41011863	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	25	5	.	.	ENST00000373161.1:c.500A>C	p.Glu167Ala	p.E167A	ENST00000373161	NM_001010873.2	167	gAg/gCg	0	1	1	UPI0000070FA4	0	NA	ENST00000373161		ENSG00000112212	21256		30	1.39		HGNC	p.E167A		TSPO2		SNV							ENST00000470917	protein_coding	getma.org/?cm=var&var=hg19,6,41011863,A,C&fts=all		hmmpanther:PTHR10057,hmmpanther:PTHR10057:SF1		E/A		C	low	745/958		getma.org/?cm=msa&ty=f&p=TSPO2_HUMAN&rb=126&re=170&var=E167A	tolerated(0.08)				YES	TSPO2,missense_variant,p.Glu167Ala,ENST00000373161,NM_001010873.2;TSPO2,missense_variant,p.Glu167Ala,ENST00000470917,NM_001159726.1;TSPO2,3_prime_UTR_variant,,ENST00000373158,;UNC5CL,upstream_gene_variant,,ENST00000244565,NM_173561.2;OARD1,intron_variant,,ENST00000482853,;							MODERATE	500/513	E167A	TSPO2_HUMAN			Transcript		benign(0.001)	.	ENSP00000362255		CCDS34444.1			1	
HSPG2	0	LGGM	GRCh37	1	22170733	22170733	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	14	5	.	.	ENST00000374695.3:c.8524C>A	p.Gln2842Lys	p.Q2842K	ENST00000374695	NM_005529.5	2842	Cag/Aag	0	1	1	UPI0000212778	0	getma.org/pdb.php?prot=PGBM_HUMAN&from=2827&to=2910&var=Q2842K	ENST00000374695		ENSG00000142798	5273		19	2.19		HGNC	p.Q2842K		HSPG2		SNV			1				ENST00000374695	protein_coding	getma.org/?cm=var&var=hg19,1,22170733,G,T&fts=all		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		Q/K		T	medium	8604/14327		getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=2827&re=2910&var=Q2842K		B6EU51_HUMAN			YES	HSPG2,missense_variant,p.Gln2842Lys,ENST00000374695,NM_005529.5;HSPG2,downstream_gene_variant,,ENST00000430507,;HSPG2,downstream_gene_variant,,ENST00000453796,;							MODERATE	8524/13176	Q2842K	PGBM_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000363827		CCDS30625.1			1	
OR1L6	0	LGGM	GRCh37	9	125512118	125512118	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	90	5	.	.				ENST00000304720	NM_001004453.2			0	1		UPI00001D770B	0		ENST00000373684		ENSG00000171459	8218		95			HGNC	p.S34T		OR1L6		SNV							ENST00000373684	protein_coding			Gene3D:1.20.1070.10		S/T		A		100/1044			tolerated(0.67)					OR1L6,missense_variant,p.Ser34Thr,ENST00000373684,;OR1L6,upstream_gene_variant,,ENST00000304720,NM_001004453.2;							MODERATE	100/1044		OR1L6_HUMAN			Transcript		benign(0.012)	.	ENSP00000362788					1	
OLFML3	0	LGGM	GRCh37	1	114523686	114523686	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	17	5	.	.	ENST00000320334.4:c.516A>G	p.Leu172=	p.L172=	ENST00000320334	NM_020190.2	172	ttA/ttG	0	1	1	UPI000003B091	0		ENST00000320334		ENSG00000116774	24956		22			HGNC	p.L172L		OLFML3		SNV							ENST00000320334	protein_coding			Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF8,SMART_domains:SM00284		L		G		590/1780				M1LAK4_HUMAN,B4DNG0_HUMAN			YES	OLFML3,synonymous_variant,p.=,ENST00000369551,NM_001286352.1;OLFML3,synonymous_variant,p.=,ENST00000320334,NM_020190.2;OLFML3,synonymous_variant,p.=,ENST00000393300,;HIPK1,downstream_gene_variant,,ENST00000369558,;HIPK1,downstream_gene_variant,,ENST00000369554,NM_198268.2;HIPK1,downstream_gene_variant,,ENST00000340480,NM_198269.2;HIPK1,downstream_gene_variant,,ENST00000406344,;HIPK1,downstream_gene_variant,,ENST00000361587,;OLFML3,non_coding_transcript_exon_variant,,ENST00000491700,;							LOW	516/1221		OLFL3_HUMAN			Transcript			.	ENSP00000322273		CCDS870.1			1	
THOP1	0	LGGM	GRCh37	19	2796075	2796075	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	6	6	.	.	ENST00000307741.6:c.379-4C>G		p.X127_splice	ENST00000307741	NM_003249.3			0	1	1	UPI0000000C3E	0		ENST00000307741		ENSG00000172009	11793		12			HGNC	p.F4L		THOP1		SNV							ENST00000586677	protein_coding							G		-/2598				Q9BW75_HUMAN,K7EKB6_HUMAN,K7EIK4_HUMAN			YES	THOP1,missense_variant,p.Phe4Leu,ENST00000586677,;THOP1,splice_region_variant,,ENST00000307741,NM_003249.3;THOP1,splice_region_variant,,ENST00000585338,;THOP1,splice_region_variant,,ENST00000585673,;THOP1,downstream_gene_variant,,ENST00000586780,;							LOW	-/2070		THOP1_HUMAN			Transcript			.	ENSP00000304467		CCDS12095.1			1	
WDFY3	0	LGGM	GRCh37	4	85599415	85599415	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	46	6	.	.	ENST00000295888.4:c.10165C>G	p.Gln3389Glu	p.Q3389E	ENST00000295888	NM_014991.4	3389	Cag/Gag	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		52	2.08		HGNC	p.Q3389E		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85599415,G,C&fts=all		hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		Q/E		C	medium	10573/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=3291&re=3447&var=Q3389E	deleterious(0)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Gln3372Glu,ENST00000322366,;WDFY3,missense_variant,p.Gln3389Glu,ENST00000295888,NM_014991.4;WDFY3,non_coding_transcript_exon_variant,,ENST00000425179,;							MODERATE	10165/10581	Q3389E	WDFY3_HUMAN			Transcript		benign(0.19)	.	ENSP00000295888		CCDS3609.1			1	
FGB	0	LGGM	GRCh37	4	155491787	155491787	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	21	7	.	.	ENST00000302068.4:c.1461C>T	p.Phe487=	p.F487=	ENST00000302068	NM_005141.4	487	ttC/ttT	0	1	1	UPI000012A778	0		ENST00000302068		ENSG00000171564	3662		28			HGNC	p.F268F		FGB		SNV			1				ENST00000509493	protein_coding			Superfamily_domains:SSF56496,SMART_domains:SM00186,hmmpanther:PTHR19143:SF23,hmmpanther:PTHR19143,PROSITE_profiles:PS51406		F		T		1524/1975				D6REL8_HUMAN,D3DP13_HUMAN,B4E1D3_HUMAN			YES	FGB,synonymous_variant,p.=,ENST00000302068,NM_005141.4;FGB,synonymous_variant,p.=,ENST00000509493,;FGB,non_coding_transcript_exon_variant,,ENST00000502545,;FGB,downstream_gene_variant,,ENST00000498375,;FGB,downstream_gene_variant,,ENST00000473984,;FGB,downstream_gene_variant,,ENST00000497097,;FGB,downstream_gene_variant,,ENST00000425838,;							LOW	1461/1476		FIBB_HUMAN			Transcript			.	ENSP00000306099		CCDS3786.1			1	
ATG14	0	LGGM	GRCh37	14	55847360	55847360	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	42	7	.	.	ENST00000247178.5:c.926A>G	p.Tyr309Cys	p.Y309C	ENST00000247178	NM_014924.4	309	tAt/tGt	0	1	1	UPI00001FD5B2	0	NA	ENST00000247178		ENSG00000126775	19962		49	2.14		HGNC	p.Y309C		ATG14		SNV							ENST00000247178	protein_coding	getma.org/?cm=var&var=hg19,14,55847360,T,C&fts=all		Pfam_domain:PF10186,hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0		Y/C		C	medium	962/4742		getma.org/?cm=msa&ty=f&p=BAKOR_HUMAN&rb=42&re=389&var=Y309C	deleterious(0)				YES	ATG14,missense_variant,p.Tyr309Cys,ENST00000247178,NM_014924.4;ATG14,non_coding_transcript_exon_variant,,ENST00000558189,;							MODERATE	926/1479	Y309C	BAKOR_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000247178		CCDS32087.1			1	
IRGC	0	LGGM	GRCh37	19	44223715	44223717	+	inframe_deletion	In_Frame_Del	DEL	CAA	CAA	-	novel	by Submitter	H080895	H080895N.bam	CAA	CAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	16	7	.	.	ENST00000244314.5:c.1006_1008del	p.Asn336del	p.N336del	ENST00000244314	NM_019612.3	335	gcCAAc/gcc	0	1	1	UPI000011DFC0	0		ENST00000244314		ENSG00000124449	28835		23			HGNC	p.335_336del		IRGC		deletion							ENST00000244314	protein_coding			Pfam_domain:PF05049,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7		AN/A		-		1204-1206/1662				J7NNX4_HUMAN			YES	IRGC,inframe_deletion,p.Asn336del,ENST00000244314,NM_019612.3;IRGC,downstream_gene_variant,,ENST00000596627,;							MODERATE	1005-1007/1392		IIGP5_HUMAN			Transcript	1		.	ENSP00000244314		CCDS12629.1			1	
KNDC1	0	LGGM	GRCh37	10	134999938	134999938	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	12	8	.	.	ENST00000304613.3:c.1086G>C	p.Arg362Ser	p.R362S	ENST00000304613		362	agG/agC	0	1	1	UPI00003529F7	0	NA	ENST00000304613		ENSG00000171798	29374		20	0.895		HGNC	p.R297S		KNDC1		SNV							ENST00000368571	protein_coding	getma.org/?cm=var&var=hg19,10,134999938,G,C&fts=all		hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560		R/S		C	low	1107/6793		getma.org/?cm=msa&ty=f&p=VKIND_HUMAN&rb=220&re=419&var=R362S	tolerated(0.13)	B4DFN0_HUMAN			YES	KNDC1,missense_variant,p.Arg362Ser,ENST00000304613,;KNDC1,missense_variant,p.Arg362Ser,ENST00000368572,NM_152643.6;KNDC1,missense_variant,p.Arg297Ser,ENST00000368571,;							MODERATE	1086/5250	R362S	VKIND_HUMAN			Transcript		benign(0)	.	ENSP00000304437		CCDS7674.1			1	
PTPN9	0	LGGM	GRCh37	15	75766062	75766062	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	108	8	.	.	ENST00000306726.2:c.1176G>A	p.Glu392=	p.E392=	ENST00000306726	NM_002833.2	392	gaG/gaA	0	1	1	UPI0000000CAC	0		ENST00000306726		ENSG00000169410	9661		116			HGNC	p.E392E	rs762584659	PTPN9		SNV				9.67E-05			ENST00000306726	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF194,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700		E		T		1689/3943							YES	PTPN9,synonymous_variant,p.=,ENST00000306726,NM_002833.2;PTPN9,non_coding_transcript_exon_variant,,ENST00000563835,;PTPN9,upstream_gene_variant,,ENST00000568108,;							LOW	1176/1782		PTN9_HUMAN			Transcript			.	ENSP00000303554	8.24E-06	CCDS10280.1			1	
ZNF790	0	LGGM	GRCh37	19	37310127	37310127	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	48	8	.	.	ENST00000356725.4:c.1119A>G	p.Lys373=	p.K373=	ENST00000356725	NM_206894.3	373	aaA/aaG	0	1	1	UPI0000160EF0	0		ENST00000356725		ENSG00000197863	33114		56			HGNC	p.K373K		ZNF790		SNV							ENST00000356725	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355		K		C		1240/3037				K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN			YES	ZNF790,synonymous_variant,p.=,ENST00000356725,NM_206894.3,NM_001242802.1;ZNF790,downstream_gene_variant,,ENST00000528994,NM_001242801.1;ZNF790,downstream_gene_variant,,ENST00000586323,NM_001242800.1;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;							LOW	1119/1911		ZN790_HUMAN			Transcript			.	ENSP00000349161		CCDS12496.1			1	
ARID1A	0	LGGM	GRCh37	1	27101394	27101403	+	frameshift_variant	Frame_Shift_Del	DEL	CCCCTGTGCC	CCCCTGTGCC	-	novel	by Submitter	H080895	H080895N.bam	CCCCTGTGCC	CCCCTGTGCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	17	8	.	.	ENST00000324856.7:c.4680_4689del	p.Val1561Ter	p.V1561*	ENST00000324856	NM_006015.4	1559	gCCCCTGTGCCc/gc	0	1	1	UPI0000167B91	0		ENST00000324856		ENSG00000117713	11110		25			HGNC	p.1176_1179del		ARID1A		deletion			1				ENST00000374152	protein_coding			hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12		APVP/X		-		5047-5056/8577				Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,frameshift_variant,p.Val1561Ter,ENST00000324856,NM_006015.4;ARID1A,frameshift_variant,p.Val1178Ter,ENST00000374152,;ARID1A,frameshift_variant,p.Val458Ter,ENST00000430799,;ARID1A,intron_variant,,ENST00000457599,NM_139135.2;ARID1A,intron_variant,,ENST00000540690,;ARID1A,frameshift_variant,p.Val14Ter,ENST00000532781,;ARID1A,intron_variant,,ENST00000466382,;							HIGH	4676-4685/6858		ARI1A_HUMAN			Transcript	4		.	ENSP00000320485		CCDS285.1			1	
ST6GAL2	0	LGGM	GRCh37	2	107423242	107423242	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	24	8	.	.	ENST00000409382.3:c.1482C>T	p.Arg494=	p.R494=	ENST00000409382	NM_001142351.1	494	cgC/cgT	0	1		UPI000007477B	0		ENST00000361686		ENSG00000144057	10861		32			HGNC	p.R494R		ST6GAL2		SNV							ENST00000409382	protein_coding			Pfam_domain:PF00777,hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF48		R		A		1671/6857				C9JIK2_HUMAN,C4N9P8_HUMAN				ST6GAL2,synonymous_variant,p.=,ENST00000409382,NM_001142351.1;ST6GAL2,synonymous_variant,p.=,ENST00000361686,NM_032528.2;ST6GAL2,synonymous_variant,p.=,ENST00000361803,;							LOW	1482/1590		SIAT2_HUMAN			Transcript			.	ENSP00000355273		CCDS2073.1			1	
VIT	0	LGGM	GRCh37	2	37035805	37035805	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	18	8	.	.	ENST00000379242.3:c.1580G>T	p.Arg527Leu	p.R527L	ENST00000379242	NM_053276.3	527	cGc/cTc	0	1		UPI00000389D9	0	getma.org/pdb.php?prot=VITRN_HUMAN&from=495&to=668&var=R512L	ENST00000389975		ENSG00000205221	12697		26	1.92		HGNC	p.R181L		VIT		SNV							ENST00000497382	protein_coding	getma.org/?cm=var&var=hg19,2,37035805,G,T&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF3,SMART_domains:SM00327,Superfamily_domains:SSF53300		R/L		T	medium	1837/2770		getma.org/?cm=msa&ty=f&p=VITRN_HUMAN&rb=495&re=668&var=R512L	deleterious(0)	C9J6F5_HUMAN				VIT,missense_variant,p.Arg527Leu,ENST00000379242,NM_053276.3;VIT,missense_variant,p.Arg512Leu,ENST00000389975,NM_001177970.1,NM_001177969.1;VIT,missense_variant,p.Arg181Leu,ENST00000497382,;VIT,missense_variant,p.Arg490Leu,ENST00000379241,NM_001177971.1;VIT,missense_variant,p.Arg464Leu,ENST00000404084,;VIT,missense_variant,p.Arg491Leu,ENST00000401530,;							MODERATE	1535/2037	R512L	VITRN_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000374625		CCDS54347.1			1	
HIATL2	0	LGGM	GRCh37	9	99721117	99721117	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	12	8	.	.	ENST00000602917.1:c.267G>C	p.Lys89Asn	p.K89N	ENST00000602917		89	aaG/aaC	0	1		UPI000045889B	0		ENST00000375223		ENSG00000196312	23672		20			HGNC	p.K89N		HIATL2		SNV							ENST00000375223	protein_coding			Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR24003,hmmpanther:PTHR24003:SF510,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		K/N		G		481/619			deleterious(0)					HIATL2,missense_variant,p.Lys89Asn,ENST00000602917,;HIATL2,missense_variant,p.Lys89Asn,ENST00000375223,;YRDCP2,downstream_gene_variant,,ENST00000424606,;							MODERATE	267/405		HIAL2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000364371					1	
CTBP1	0	LGGM	GRCh37	4	1207272	1207272	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	17	9	.	.	ENST00000290921.6:c.1015A>G	p.Ile339Val	p.I339V	ENST00000290921	NM_001328.2	339	Atc/Gtc	0	1	1	UPI0000128637	0	getma.org/pdb.php?prot=CTBP1_HUMAN&from=30&to=352&var=I339V	ENST00000290921		ENSG00000159692	2494		26	1.4		HGNC	p.I339V		CTBP1		SNV							ENST00000290921	protein_coding	getma.org/?cm=var&var=hg19,4,1207272,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10996,hmmpanther:PTHR10996:SF128,Pfam_domain:PF00389		I/V		C	low	1197/2297		getma.org/?cm=msa&ty=f&p=CTBP1_HUMAN&rb=30&re=352&var=I339V	tolerated(0.06)				YES	CTBP1,missense_variant,p.Ile328Val,ENST00000382952,NM_001012614.1;CTBP1,missense_variant,p.Ile339Val,ENST00000290921,NM_001328.2;CTBP1,missense_variant,p.Ile82Val,ENST00000503594,;CTBP1,missense_variant,p.Ile186Val,ENST00000504092,;CTBP1,downstream_gene_variant,,ENST00000506180,;SPON2,upstream_gene_variant,,ENST00000511679,;SPON2,upstream_gene_variant,,ENST00000400762,;CTBP1,downstream_gene_variant,,ENST00000514669,;CTBP1,downstream_gene_variant,,ENST00000505826,;SPON2,upstream_gene_variant,,ENST00000502657,;SPON2,upstream_gene_variant,,ENST00000506266,;CTBP1,3_prime_UTR_variant,,ENST00000510739,;CTBP1,non_coding_transcript_exon_variant,,ENST00000382950,;CTBP1,downstream_gene_variant,,ENST00000511907,;CTBP1,upstream_gene_variant,,ENST00000514596,;							MODERATE	1015/1323	I339V	CTBP1_HUMAN			Transcript		benign(0.025)	.	ENSP00000290921		CCDS3348.1			1	
RNGTT	0	LGGM	GRCh37	6	89673085	89673085	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	22	9	.	.	ENST00000369485.4:c.44G>T	p.Arg15Leu	p.R15L	ENST00000369485	NM_003800.3	15	cGg/cTg	0	1	1	UPI000012ED6E	0	getma.org/pdb.php?prot=MCE1_HUMAN&from=1&to=46&var=R15L	ENST00000369485		ENSG00000111880	10073		31	2.835		HGNC	p.R15L		RNGTT		SNV							ENST00000369475	protein_coding	getma.org/?cm=var&var=hg19,6,89673085,C,A&fts=all		hmmpanther:PTHR10367,hmmpanther:PTHR10367:SF0,Gene3D:3.90.190.10,PIRSF_domain:PIRSF036958,Superfamily_domains:SSF52799		R/L		A	medium	231/4434		getma.org/?cm=msa&ty=f&p=MCE1_HUMAN&rb=1&re=46&var=R15L	deleterious(0)	Q7Z3R6_HUMAN,B4DIQ0_HUMAN			YES	RNGTT,missense_variant,p.Arg15Leu,ENST00000369485,NM_003800.3;RNGTT,missense_variant,p.Arg15Leu,ENST00000265607,NM_001286428.1,NM_001286426.1;RNGTT,missense_variant,p.Arg15Leu,ENST00000369475,;RNGTT,5_prime_UTR_variant,,ENST00000538899,;AL079342.1,upstream_gene_variant,,ENST00000369474,;							MODERATE	44/1794	R15L	MCE1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000358497		CCDS5017.1			1	
TRPA1	0	LGGM	GRCh37	8	72977765	72977765	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	40	9	.	.	ENST00000262209.4:c.473T>C	p.Val158Ala	p.V158A	ENST00000262209	NM_007332.2	158	gTt/gCt	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		49	1.525		HGNC	p.V158A		TRPA1		SNV			1				ENST00000262209	protein_coding	getma.org/?cm=var&var=hg19,8,72977765,A,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		V/A		G	low	681/5223		getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=130&re=163&var=V158A	tolerated(0.15)				YES	TRPA1,missense_variant,p.Val158Ala,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Val10Ala,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519068,;							MODERATE	473/3360	V158A	TRPA1_HUMAN			Transcript		benign(0.046)	.	ENSP00000262209		CCDS34908.1			1	
FCRL1	0	LGGM	GRCh37	1	157767976	157767976	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	14	9	.	.	ENST00000368176.3:c.1089G>A	p.Gly363=	p.G363=	ENST00000368176	NM_001159398.1	363	ggG/ggA	0	1	1	UPI000006E5BD	0		ENST00000368176		ENSG00000163534	18509	8.76E-05	23			HGNC	p.G363G	rs541707047	FCRL1		SNV							ENST00000368176	protein_coding		T:0	hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF56		G		T		1157/2596					T:0	T:0.001	YES	FCRL1,synonymous_variant,p.=,ENST00000358292,NM_001159397.1;FCRL1,synonymous_variant,p.=,ENST00000368176,NM_001159398.1,NM_052938.4;FCRL1,synonymous_variant,p.=,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,upstream_gene_variant,,ENST00000495126,;	0.000116	T:0.0002					LOW	1089/1290		FCRL1_HUMAN		T:0	Transcript			.	ENSP00000357158	1.65E-05	CCDS1170.1		T:0	1	
PCDHGA3	0	LGGM	GRCh37	5	140723859	140723859	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	68	9	.	.	ENST00000253812.6:c.259G>A	p.Ala87Thr	p.A87T	ENST00000253812	NM_018916.3	87	Gcg/Acg	0	1	1	UPI0000161C1A	0	getma.org/pdb.php?prot=PCDG3_HUMAN&from=29&to=112&var=A87T	ENST00000253812		ENSG00000254245	8701		77	2.125		HGNC	p.A87T		PCDHGA3		SNV							ENST00000253812	protein_coding	getma.org/?cm=var&var=hg19,5,140723859,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/T		A	medium	259/4605		getma.org/?cm=msa&ty=f&p=PCDG3_HUMAN&rb=29&re=112&var=A87T	deleterious_low_confidence(0.01)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA3,missense_variant,p.Ala87Thr,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,;							MODERATE	259/2799	A87T	PCDG3_HUMAN			Transcript		benign(0.396)	.	ENSP00000253812		CCDS47290.1			1	
TBCEL	0	LGGM	GRCh37	11	120930676	120930676	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	15	10	.	.	ENST00000422003.2:c.840-2A>T		p.X280_splice	ENST00000422003	NM_152715.3			0	1	1	UPI0000D62697	0		ENST00000422003		ENSG00000154114	28115		25			HGNC	-		TBCEL		SNV							ENST00000529397	protein_coding							T		-/5142				E9PNS0_HUMAN,E9PJJ0_HUMAN			YES	TBCEL,splice_acceptor_variant,,ENST00000422003,NM_152715.3;TBCEL,splice_acceptor_variant,,ENST00000529397,NM_001130047.1;TBCEL,splice_acceptor_variant,,ENST00000533134,;TBCEL,downstream_gene_variant,,ENST00000524726,;TBCEL,splice_acceptor_variant,,ENST00000284259,;TBCEL,splice_acceptor_variant,,ENST00000531148,;TBCEL,splice_acceptor_variant,,ENST00000533169,;TBCEL,splice_acceptor_variant,,ENST00000533712,;							HIGH	840/1275		TBCEL_HUMAN			Transcript			.	ENSP00000403925		CCDS31692.1			1	
NTRK3	0	LGGM	GRCh37	15	88472570	88472570	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	20	10	.	.	ENST00000360948.2:c.1985A>T	p.Gln662Leu	p.Q662L	ENST00000360948	NM_001012338.2	662	cAg/cTg	0	1	1	UPI000006DC82	0	getma.org/pdb.php?prot=NTRK3_HUMAN&from=538&to=824&var=Q662L	ENST00000360948		ENSG00000140538	8033		30	3.01		HGNC	p.Q662L		NTRK3		SNV			1				ENST00000360948	protein_coding	getma.org/?cm=var&var=hg19,15,88472570,T,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112		Q/L		A	medium	2147/2826		getma.org/?cm=msa&ty=f&p=NTRK3_HUMAN&rb=538&re=824&var=Q662L	deleterious(0)	R4GNH5_HUMAN			YES	NTRK3,missense_variant,p.Gln662Leu,ENST00000394480,NM_002530.3,NM_001243101.1;NTRK3,missense_variant,p.Gln662Leu,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Gln654Leu,ENST00000357724,;NTRK3,missense_variant,p.Gln662Leu,ENST00000355254,;NTRK3,missense_variant,p.Gln654Leu,ENST00000557856,;NTRK3,missense_variant,p.Gln654Leu,ENST00000558676,;NTRK3,missense_variant,p.Gln564Leu,ENST00000542733,;NTRK3,missense_variant,p.Gln59Leu,ENST00000558576,;NTRK3,downstream_gene_variant,,ENST00000559680,;							MODERATE	1985/2520	Q662L	NTRK3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000354207		CCDS32322.1			1	
SIGLEC12	0	LGGM	GRCh37	19	52002962	52002962	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	20	10	.	.	ENST00000291707.3:c.817C>T	p.His273Tyr	p.H273Y	ENST00000291707	NM_053003.2	273	Cac/Tac	0	1	1	UPI0000135992	0	getma.org/pdb.php?prot=SIG12_HUMAN&from=271&to=274&var=H273Y	ENST00000291707		ENSG00000254521	15482		30	2.27		HGNC	p.H155Y		SIGLEC12		SNV							ENST00000598614	protein_coding	getma.org/?cm=var&var=hg19,19,52002962,G,A&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43		H/Y		A	medium	873/2121		getma.org/?cm=msa&ty=f&p=SIG12_HUMAN&rb=241&re=304&var=H273Y	deleterious(0.04)				YES	SIGLEC12,missense_variant,p.His273Tyr,ENST00000291707,NM_053003.2;SIGLEC12,missense_variant,p.His155Tyr,ENST00000598614,NM_033329.1;SIGLEC12,3_prime_UTR_variant,,ENST00000596742,;							MODERATE	817/1788	H273Y	SIG12_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000291707		CCDS12833.1			1	
PLEKHS1	0	LGGM	GRCh37	10	115527151	115527151	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	25	10	.	.	ENST00000369310.3:c.254C>T	p.Ser85Phe	p.S85F	ENST00000369310	NM_182601.1	85	tCt/tTt	0	1	1	UPI000047020C	0	NA	ENST00000369310		ENSG00000148735	26285		35	0.83		HGNC	p.S85F		PLEKHS1		SNV							ENST00000369310	protein_coding	getma.org/?cm=var&var=hg19,10,115527151,C,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156,Gene3D:2.30.29.30,Pfam_domain:PF15413,SMART_domains:SM00233,Superfamily_domains:SSF50729		S/F		T	low	816/2046		getma.org/?cm=msa&ty=f&p=CJ081_HUMAN&rb=14&re=129&var=S85F	tolerated(0.15)				YES	PLEKHS1,missense_variant,p.Ser91Phe,ENST00000361048,NM_024889.4;PLEKHS1,missense_variant,p.Ser85Phe,ENST00000369310,NM_182601.1;PLEKHS1,missense_variant,p.Ser3Phe,ENST00000369312,NM_001193434.1,NM_001193435.1;PLEKHS1,upstream_gene_variant,,ENST00000354462,;PLEKHS1,upstream_gene_variant,,ENST00000369309,;							MODERATE	254/1398	S85F	PKHS1_HUMAN			Transcript		benign(0.073)	.	ENSP00000358316		CCDS53580.1			1	
KDELR1	0	LGGM	GRCh37	19	48893771	48893771	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	12	10	.	.	ENST00000330720.2:c.102G>A	p.Gly34=	p.G34=	ENST00000330720	NM_006801.2	34	ggG/ggA	0	1	1	UPI000012A0CA	0		ENST00000330720		ENSG00000105438	6304		22			HGNC	p.G34G		KDELR1		SNV							ENST00000330720	protein_coding			Prints_domain:PR00660,Pfam_domain:PF00810,PROSITE_patterns:PS00951,hmmpanther:PTHR10585:SF7,hmmpanther:PTHR10585		G		T		297/1557				Q8NBW7_HUMAN			YES	KDELR1,synonymous_variant,p.=,ENST00000330720,NM_006801.2;KDELR1,synonymous_variant,p.=,ENST00000600980,;KDELR1,5_prime_UTR_variant,,ENST00000597017,;GRIN2D,upstream_gene_variant,,ENST00000263269,NM_000836.2;KDELR1,non_coding_transcript_exon_variant,,ENST00000599084,;KDELR1,non_coding_transcript_exon_variant,,ENST00000594643,;							LOW	102/639		ERD21_HUMAN			Transcript			.	ENSP00000329471		CCDS12718.1			1	
ABCC1	0	LGGM	GRCh37	16	16108403	16108403	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	24	11	.	.	ENST00000399410.3:c.407G>A	p.Gly136Glu	p.G136E	ENST00000399410	NM_004996.3	136	gGg/gAg	0	1	1	UPI00001FEEFC	0	NA	ENST00000399410		ENSG00000103222	51		35	3.105		HGNC	p.G136E		ABCC1		SNV							ENST00000346370	protein_coding	getma.org/?cm=var&var=hg19,16,16108403,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24223:SF203,hmmpanther:PTHR24223,TIGRFAM_domain:TIGR00957		G/E		A	medium	582/6552		getma.org/?cm=msa&ty=f&p=MRP1_HUMAN&rb=1&re=200&var=G136E	deleterious(0)	Q9BV39_HUMAN			YES	ABCC1,missense_variant,p.Gly136Glu,ENST00000399408,;ABCC1,missense_variant,p.Gly136Glu,ENST00000399410,NM_004996.3;ABCC1,missense_variant,p.Gly136Glu,ENST00000346370,;ABCC1,missense_variant,p.Gly136Glu,ENST00000351154,;ABCC1,missense_variant,p.Gly136Glu,ENST00000345148,;ABCC1,missense_variant,p.Gly136Glu,ENST00000349029,;ABCC1,missense_variant,p.Gly35Glu,ENST00000572882,;ABCC1,non_coding_transcript_exon_variant,,ENST00000574224,;							MODERATE	407/4596	G136E	MRP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382342		CCDS42122.1			1	
EEFSEC	0	LGGM	GRCh37	3	128077190	128077190	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	23	11	.	.	ENST00000254730.6:c.1574G>A	p.Ser525Asn	p.S525N	ENST00000254730	NM_021937.3	525	aGc/aAc	0	1	1	UPI000013CE58	0	NA	ENST00000254730		ENSG00000132394	24614		34	2.485		HGNC	p.S525N		EEFSEC		SNV							ENST00000254730	protein_coding	getma.org/?cm=var&var=hg19,3,128077190,G,A&fts=all				S/N		A	medium	1628/2228		getma.org/?cm=msa&ty=f&p=SELB_HUMAN&rb=505&re=596&var=S525N	deleterious(0)				YES	EEFSEC,missense_variant,p.Ser525Asn,ENST00000254730,NM_021937.3;EEFSEC,intron_variant,,ENST00000483457,;MIR1280,upstream_gene_variant,,ENST00000408140,;							MODERATE	1574/1791	S525N	SELB_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000254730		CCDS33849.1			1	
ATR	0	LGGM	GRCh37	3	142234272	142234272	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	30	12	.	.	ENST00000350721.4:c.4468T>A	p.Trp1490Arg	p.W1490R	ENST00000350721	NM_001184.3	1490	Tgg/Agg	0	1	1	UPI0000031A31	0	NA	ENST00000350721		ENSG00000175054	882		42	2.65		HGNC	p.W1426R		ATR		SNV			1				ENST00000383101	protein_coding	getma.org/?cm=var&var=hg19,3,142234272,A,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64,Superfamily_domains:SSF48371		W/R		T	medium	4590/8249		getma.org/?cm=msa&ty=f&p=ATR_HUMAN&rb=1426&re=1625&var=W1490R	deleterious(0)				YES	ATR,missense_variant,p.Trp1490Arg,ENST00000350721,NM_001184.3;ATR,missense_variant,p.Trp1426Arg,ENST00000383101,;							MODERATE	4468/7935	W1490R	ATR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343741		CCDS3124.1			1	
ITPR3	0	LGGM	GRCh37	6	33654191	33654191	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	18	12	.	.	ENST00000374316.5:c.5874C>A	p.Cys1958Ter	p.C1958*	ENST00000374316		1958	tgC/tgA	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		30	0		HGNC	p.C1958X		ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33654191,C,A&fts=all		Pfam_domain:PF08454,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		C/*		A	NA	6934/9870		NA		A6H8K3_HUMAN			YES	ITPR3,stop_gained,p.Cys1958Ter,ENST00000374316,;ITPR3,stop_gained,p.Cys1958Ter,ENST00000605930,NM_002224.3;							HIGH	5874/8016	C1958*	ITPR3_HUMAN			Transcript			.	ENSP00000363435		CCDS4783.1			1	
NCAN	0	LGGM	GRCh37	19	19335189	19335189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	26	12	.	.	ENST00000252575.6:c.725G>T	p.Arg242Met	p.R242M	ENST00000252575	NM_004386.2	242	aGg/aTg	0	1	1	UPI000013CD70	0	getma.org/pdb.php?prot=NCAN_HUMAN&from=159&to=254&var=R242M	ENST00000252575		ENSG00000130287	2465		38	1.15		HGNC	p.R242M		NCAN		SNV							ENST00000252575	protein_coding	getma.org/?cm=var&var=hg19,19,19335189,G,T&fts=all		PROSITE_profiles:PS50963,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24,Pfam_domain:PF00193,Gene3D:3.10.100.10,SMART_domains:SM00445,Superfamily_domains:SSF56436		R/M		T	low	824/6387		getma.org/?cm=msa&ty=f&p=NCAN_HUMAN&rb=159&re=254&var=R242M	deleterious(0.01)	Q4LE67_HUMAN,F5H7X3_HUMAN			YES	NCAN,missense_variant,p.Arg242Met,ENST00000252575,NM_004386.2;NCAN,upstream_gene_variant,,ENST00000538881,;NCAN,upstream_gene_variant,,ENST00000590187,;							MODERATE	725/3966	R242M	NCAN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000252575		CCDS12397.1			1	
SNX30	0	LGGM	GRCh37	9	115580049	115580049	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	29	13	.	.	ENST00000374232.3:c.413G>A	p.Trp138Ter	p.W138*	ENST00000374232	NM_001012994.1	138	tGg/tAg	0	1	1	UPI0000457796	0	NA	ENST00000374232		ENSG00000148158	23685		42	0		HGNC	p.W138X		SNX30		SNV							ENST00000374232	protein_coding	getma.org/?cm=var&var=hg19,9,115580049,G,A&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF123,SMART_domains:SM00312,Superfamily_domains:SSF64268		W/*		A	NA	577/7622		NA					YES	SNX30,stop_gained,p.Trp138Ter,ENST00000374232,NM_001012994.1;							HIGH	413/1314	W138*	SNX30_HUMAN			Transcript			.	ENSP00000363349		CCDS43865.1			1	
AHNAK2	0	LGGM	GRCh37	14	105417140	105417140	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	79	13	.	.	ENST00000333244.5:c.4648C>G	p.Leu1550Val	p.L1550V	ENST00000333244	NM_138420.2	1550	Ctg/Gtg	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		92	0.65		HGNC	p.L1550V	rs770594279	AHNAK2		SNV				0.000105			ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105417140,G,C&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		L/V		C	neutral	4768/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1401&re=1600&var=L1550V					YES	AHNAK2,missense_variant,p.Leu1550Val,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	4648/17388	L1550V	AHNK2_HUMAN			Transcript		benign(0.421)	.	ENSP00000353114	8.33E-06	CCDS45177.1			1	
UNC5A	0	LGGM	GRCh37	5	176301446	176301446	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	16	13	.	.	ENST00000329542.4:c.1257C>A	p.Ala419=	p.A419=	ENST00000329542	NM_133369.2	419	gcC/gcA	0	1	1	UPI0000047F37	0		ENST00000329542		ENSG00000113763	12567		29			HGNC	p.A419A		UNC5A		SNV							ENST00000329542	protein_coding			hmmpanther:PTHR12582:SF4,hmmpanther:PTHR12582		A		A		1531/3812							YES	UNC5A,synonymous_variant,p.=,ENST00000329542,NM_133369.2;UNC5A,synonymous_variant,p.=,ENST00000261961,;UNC5A,downstream_gene_variant,,ENST00000509580,;UNC5A,downstream_gene_variant,,ENST00000513890,;							LOW	1257/2529		UNC5A_HUMAN			Transcript			.	ENSP00000332737		CCDS34299.1			1	
NOL9	0	LGGM	GRCh37	1	6604921	6604921	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	27	14	.	.	ENST00000377705.5:c.942A>G	p.Thr314=	p.T314=	ENST00000377705	NM_024654.4	314	acA/acG	0	1	1	UPI00003664C8	0		ENST00000377705		ENSG00000162408	26265		41			HGNC	p.T314T		NOL9		SNV							ENST00000377705	protein_coding			Pfam_domain:PF03205,hmmpanther:PTHR12755:SF3,hmmpanther:PTHR12755		T		C		975/6649							YES	NOL9,synonymous_variant,p.=,ENST00000377705,NM_024654.4;RNU6-731P,downstream_gene_variant,,ENST00000517213,;NOL9,non_coding_transcript_exon_variant,,ENST00000464383,;NOL9,downstream_gene_variant,,ENST00000464665,;NOL9,downstream_gene_variant,,ENST00000460777,;RP11-58A11.2,upstream_gene_variant,,ENST00000456162,;							LOW	942/2109		NOL9_HUMAN			Transcript			.	ENSP00000366934		CCDS80.1			1	
ERMAP	0	LGGM	GRCh37	1	43308308	43308308	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	24	14	.	.	ENST00000372517.2:c.833T>G	p.Phe278Cys	p.F278C	ENST00000372517	NM_001017922.1	278	tTc/tGc	0	1		UPI000007000D	0	getma.org/pdb.php?prot=ERMAP_HUMAN&from=240&to=288&var=F278C	ENST00000372514		ENSG00000164010	15743		38	1.405		HGNC	p.F188C		ERMAP		SNV			1				ENST00000328249	protein_coding	getma.org/?cm=var&var=hg19,1,43308308,T,G&fts=all		Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF46,PROSITE_profiles:PS50188		F/C		G	low	1017/3369		getma.org/?cm=msa&ty=f&p=ERMAP_HUMAN&rb=240&re=288&var=F278C	deleterious(0.02)	G4XL73_HUMAN				ERMAP,missense_variant,p.Phe188Cys,ENST00000328249,;ERMAP,missense_variant,p.Phe278Cys,ENST00000372517,NM_001017922.1;ERMAP,missense_variant,p.Phe278Cys,ENST00000372514,NM_018538.3;ZNF691,upstream_gene_variant,,ENST00000372504,;ZNF691,upstream_gene_variant,,ENST00000372506,NM_001242739.1;ZNF691,upstream_gene_variant,,ENST00000372507,;ZNF691,upstream_gene_variant,,ENST00000372508,NM_015911.3;ZNF691,upstream_gene_variant,,ENST00000397044,;RP11-342M1.3,intron_variant,,ENST00000416809,;RP11-342M1.3,intron_variant,,ENST00000444563,;RP11-342M1.3,intron_variant,,ENST00000425076,;RP11-342M1.3,intron_variant,,ENST00000414798,;ERMAP,non_coding_transcript_exon_variant,,ENST00000487556,;							MODERATE	833/1428	F278C	ERMAP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000361592		CCDS475.1			1	
CALCOCO2	0	LGGM	GRCh37	17	46919179	46919179	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	47	14	.	.	ENST00000448105.2:c.110A>C	p.Asp37Ala	p.D37A	ENST00000448105		37	gAc/gCc	0	1		UPI000006F8E3	0	NA	ENST00000258947		ENSG00000136436	29912		61	1.6		HGNC	p.D37A		CALCOCO2		SNV							ENST00000576582	protein_coding	getma.org/?cm=var&var=hg19,17,46919179,A,C&fts=all		Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF2		D/A		C	low	211/3682		getma.org/?cm=msa&ty=f&p=CACO2_HUMAN&rb=19&re=348&var=D37A	tolerated(0.06)	I3L493_HUMAN,D6RF70_HUMAN,D6REB0_HUMAN,D6RBF9_HUMAN				CALCOCO2,missense_variant,p.Asp37Ala,ENST00000258947,NM_001261393.1,NM_001261395.1,NM_001261390.1,NM_001261391.1,NM_005831.4;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000448105,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000509507,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000416445,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000502761,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000509415,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000570513,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000505071,;CALCOCO2,5_prime_UTR_variant,,ENST00000513119,;CALCOCO2,intron_variant,,ENST00000508679,;CALCOCO2,intron_variant,,ENST00000507076,;CALCOCO2,non_coding_transcript_exon_variant,,ENST00000511697,;CALCOCO2,non_coding_transcript_exon_variant,,ENST00000372317,;CALCOCO2,missense_variant,p.Asp37Ala,ENST00000576582,;CALCOCO2,non_coding_transcript_exon_variant,,ENST00000510356,;CALCOCO2,non_coding_transcript_exon_variant,,ENST00000503463,;CALCOCO2,non_coding_transcript_exon_variant,,ENST00000575560,;							MODERATE	110/1341	D37A	CACO2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258947		CCDS11538.1			1	
UQCC1	0	LGGM	GRCh37	20	33891756	33891756	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	39	14	.	.	ENST00000374385.5:c.882C>A	p.Tyr294Ter	p.Y294*	ENST00000374385	NM_018244.4	294	taC/taA	0	1	1	UPI0000206264	0	NA	ENST00000374385		ENSG00000101019	15891		53	0		HGNC	p.Y294X	rs781778408	UQCC1	0.000182	SNV				0.000192			ENST00000374385	protein_coding	getma.org/?cm=var&var=hg19,20,33891756,G,T&fts=all		hmmpanther:PTHR12184,hmmpanther:PTHR12184:SF1		Y/*		T	NA	1060/2447	3.00E-05	NA		Q3KRB6_HUMAN,B7Z314_HUMAN,B7Z1C6_HUMAN			YES	UQCC1,stop_gained,p.Tyr294Ter,ENST00000374385,NM_018244.4;UQCC1,stop_gained,p.Tyr268Ter,ENST00000374384,NM_199487.2;UQCC1,stop_gained,p.Tyr267Ter,ENST00000349714,;UQCC1,stop_gained,p.Tyr226Ter,ENST00000374380,NM_001184977.1;UQCC1,stop_gained,p.Tyr214Ter,ENST00000359226,;UQCC1,stop_gained,p.Tyr182Ter,ENST00000374377,;UQCC1,stop_gained,p.Tyr195Ter,ENST00000397556,;UQCC1,stop_gained,p.Tyr157Ter,ENST00000407996,;UQCC1,stop_gained,p.Tyr139Ter,ENST00000540457,;UQCC1,downstream_gene_variant,,ENST00000542501,;UQCC1,downstream_gene_variant,,ENST00000424405,;UQCC1,downstream_gene_variant,,ENST00000438533,;UQCC1,non_coding_transcript_exon_variant,,ENST00000496812,;UQCC1,non_coding_transcript_exon_variant,,ENST00000482440,;UQCC1,downstream_gene_variant,,ENST00000473982,;UQCC1,3_prime_UTR_variant,,ENST00000374394,;UQCC1,3_prime_UTR_variant,,ENST00000457259,;UQCC1,3_prime_UTR_variant,,ENST00000453855,;UQCC1,non_coding_transcript_exon_variant,,ENST00000472559,;UQCC1,downstream_gene_variant,,ENST00000443429,;UQCC1,downstream_gene_variant,,ENST00000497717,;							HIGH	882/900	Y294*	UQCC1_HUMAN			Transcript			.	ENSP00000363506	5.77E-05	CCDS13252.1			1	
PLSCR1	0	LGGM	GRCh37	3	146239819	146239819	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	36	14	.	.	ENST00000342435.4:c.377A>T	p.Asn126Ile	p.N126I	ENST00000342435	NM_021105.2	126	aAt/aTt	0	1	1	UPI0000001627	0	NA	ENST00000342435		ENSG00000188313	9092		50	2.97		HGNC	p.N45I		PLSCR1		SNV							ENST00000448787	protein_coding	getma.org/?cm=var&var=hg19,3,146239819,T,A&fts=all		Pfam_domain:PF03803,hmmpanther:PTHR23248,hmmpanther:PTHR23248:SF26		N/I		A	medium	788/2233		getma.org/?cm=msa&ty=f&p=PLS1_HUMAN&rb=86&re=307&var=N126I	deleterious(0.01)	C9JSI9_HUMAN,C9JE06_HUMAN,C9J7K9_HUMAN			YES	PLSCR1,missense_variant,p.Asn126Ile,ENST00000342435,NM_021105.2;PLSCR1,missense_variant,p.Asn119Ile,ENST00000487389,;PLSCR1,missense_variant,p.Asn126Ile,ENST00000472349,;PLSCR1,missense_variant,p.Asn45Ile,ENST00000448787,;PLSCR1,missense_variant,p.Asn45Ile,ENST00000486631,;PLSCR1,intron_variant,,ENST00000448205,;PLSCR1,intron_variant,,ENST00000462666,;PLSCR1,intron_variant,,ENST00000483300,;PLSCR1,upstream_gene_variant,,ENST00000484560,;PLSCR1,upstream_gene_variant,,ENST00000470496,;PLSCR1,3_prime_UTR_variant,,ENST00000489775,;PLSCR1,3_prime_UTR_variant,,ENST00000468985,;PLSCR1,3_prime_UTR_variant,,ENST00000478267,;PLSCR1,non_coding_transcript_exon_variant,,ENST00000494568,;PLSCR1,intron_variant,,ENST00000493432,;PLSCR1,intron_variant,,ENST00000463777,;PLSCR1,intron_variant,,ENST00000488253,;PLSCR1,downstream_gene_variant,,ENST00000490745,;							MODERATE	377/957	N126I	PLS1_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000345494		CCDS3135.1			1	
ZNF486	0	LGGM	GRCh37	19	20308770	20308770	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	30	14	.	.	ENST00000335117.8:c.1251A>G	p.Thr417=	p.T417=	ENST00000335117	NM_052852.3	417	acA/acG	0	1	1	UPI00002376E8	0		ENST00000335117		ENSG00000256229	20807		44			HGNC	p.T417T		ZNF486		SNV							ENST00000335117	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF95,PROSITE_profiles:PS50157		T		G		1308/3837				Q59FB0_HUMAN			YES	ZNF486,synonymous_variant,p.=,ENST00000335117,NM_052852.3;CTC-260E6.6,intron_variant,,ENST00000585498,;CTC-260E6.6,intron_variant,,ENST00000593655,;CTC-260E6.6,intron_variant,,ENST00000586657,;							LOW	1251/1392		ZN486_HUMAN			Transcript			.	ENSP00000335042		CCDS46029.1			1	
EPM2AIP1	0	LGGM	GRCh37	3	37032835	37032835	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	57	15	.	.	ENST00000322716.5:c.1734G>A	p.Glu578=	p.E578=	ENST00000322716	NM_014805.3	578	gaG/gaA	0	1	1	UPI0000073486	0		ENST00000322716		ENSG00000178567	19735		72			HGNC	p.E578E		EPM2AIP1		SNV							ENST00000322716	protein_coding			hmmpanther:PTHR11697:SF82,hmmpanther:PTHR11697		E		T		1961/7439							YES	EPM2AIP1,synonymous_variant,p.=,ENST00000322716,NM_014805.3;MLH1,upstream_gene_variant,,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,upstream_gene_variant,,ENST00000458205,NM_001258274.1;MLH1,upstream_gene_variant,,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,upstream_gene_variant,,ENST00000539477,NM_001167619.1;MLH1,upstream_gene_variant,,ENST00000536378,;MLH1,upstream_gene_variant,,ENST00000455445,;MLH1,upstream_gene_variant,,ENST00000456676,NM_001258271.1;MLH1,upstream_gene_variant,,ENST00000441265,;MLH1,upstream_gene_variant,,ENST00000429117,;RP11-129K12.3,upstream_gene_variant,,ENST00000607164,;MLH1,upstream_gene_variant,,ENST00000492474,;MLH1,upstream_gene_variant,,ENST00000485889,;MLH1,upstream_gene_variant,,ENST00000466900,;MLH1,upstream_gene_variant,,ENST00000476172,;MLH1,upstream_gene_variant,,ENST00000432299,;MLH1,upstream_gene_variant,,ENST00000457004,;MLH1,upstream_gene_variant,,ENST00000454028,;MLH1,upstream_gene_variant,,ENST00000442249,;							LOW	1734/1824		EPMIP_HUMAN			Transcript			.	ENSP00000406027		CCDS46790.1			1	
PPP1CC	0	LGGM	GRCh37	12	111160071	111160071	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	34	15	.	.	ENST00000340766.5:c.751G>C	p.Val251Leu	p.V251L	ENST00000340766	NM_001244974.1	251	Gtt/Ctt	0	1		UPI0000111E6E	0	getma.org/pdb.php?prot=PP1G_HUMAN&from=57&to=252&var=V251L	ENST00000335007		ENSG00000186298	9283		49	4.41		HGNC	p.V260L		PPP1CC		SNV							ENST00000546933	protein_coding	getma.org/?cm=var&var=hg19,12,111160071,C,G&fts=all		Gene3D:3.60.21.10,Prints_domain:PR00114,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207,SMART_domains:SM00156,Superfamily_domains:SSF56300		V/L		G	high	942/2559		getma.org/?cm=msa&ty=f&p=PP1G_HUMAN&rb=57&re=252&var=V251L	deleterious_low_confidence(0)	Q9UPN1_HUMAN,C4TNW6_HUMAN,C4TNW5_HUMAN,B4DNE3_HUMAN				PPP1CC,missense_variant,p.Val251Leu,ENST00000335007,NM_002710.3;PPP1CC,missense_variant,p.Val260Leu,ENST00000546933,;PPP1CC,missense_variant,p.Val251Leu,ENST00000550991,;PPP1CC,missense_variant,p.Val251Leu,ENST00000340766,NM_001244974.1;PPP1CC,3_prime_UTR_variant,,ENST00000551676,;PPP1CC,intron_variant,,ENST00000551582,;PPP1CC,3_prime_UTR_variant,,ENST00000550261,;PPP1CC,non_coding_transcript_exon_variant,,ENST00000553024,;PPP1CC,non_coding_transcript_exon_variant,,ENST00000546904,;							MODERATE	751/972	V251L	PP1G_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000335084		CCDS9150.1			1	
IBTK	0	LGGM	GRCh37	6	82924256	82924256	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	35	15	.	.	ENST00000306270.7:c.1892T>G	p.Leu631Arg	p.L631R	ENST00000306270	NM_015525.2	631	cTt/cGt	0	1	1	UPI000041929F	0	getma.org/pdb.php?prot=IBTK_HUMAN&from=554&to=650&var=L631R	ENST00000306270		ENSG00000005700	17853		50	3.91		HGNC	p.L631R		IBTK		SNV							ENST00000306270	protein_coding	getma.org/?cm=var&var=hg19,6,82924256,A,C&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		L/R		C	high	2442/6054		getma.org/?cm=msa&ty=f&p=IBTK_HUMAN&rb=554&re=650&var=L631R	deleterious(0)				YES	IBTK,missense_variant,p.Leu631Arg,ENST00000306270,NM_015525.2;IBTK,missense_variant,p.Leu631Arg,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,;							MODERATE	1892/4062	L631R	IBTK_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000305721		CCDS34490.1			1	
OR9G4	0	LGGM	GRCh37	11	56510718	56510718	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	25	15	.	.	ENST00000302957.3:c.570C>T	p.Asp190=	p.D190=	ENST00000302957	NM_001005284.1	190	gaC/gaT	0	1	1	UPI00001D77DB	0		ENST00000302957		ENSG00000172457	15322		40			HGNC	p.D190D		OR9G4		SNV							ENST00000302957	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Superfamily_domains:SSF81321		D		A		570/985							YES	OR9G4,synonymous_variant,p.=,ENST00000302957,NM_001005284.1;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;							LOW	570/984		OR9G4_HUMAN			Transcript			.	ENSP00000307515		CCDS31537.1			1	
CA11	0	LGGM	GRCh37	19	49143400	49143400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	19	16	.	.	ENST00000084798.4:c.423C>A	p.Asp141Glu	p.D141E	ENST00000084798	NM_001217.3	141	gaC/gaA	0	1	1	UPI000004C652	0	getma.org/pdb.php?prot=CAH11_HUMAN&from=35&to=303&var=D141E	ENST00000084798		ENSG00000063180	1370		35	2.365		HGNC	p.D141E		CA11		SNV							ENST00000084798	protein_coding	getma.org/?cm=var&var=hg19,19,49143400,G,T&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF93,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		D/E		T	medium	1103/1844		getma.org/?cm=msa&ty=f&p=CAH11_HUMAN&rb=35&re=303&var=D141E	deleterious(0.02)				YES	CA11,missense_variant,p.Asp141Glu,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,;							MODERATE	423/987	D141E	CAH11_HUMAN			Transcript		benign(0.369)	.	ENSP00000084798		CCDS12729.1			1	
HIATL1	0	LGGM	GRCh37	9	97207407	97207407	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	31	16	.	.	ENST00000375344.3:c.672A>T	p.Lys224Asn	p.K224N	ENST00000375344	NM_032558.2	224	aaA/aaT	0	1	1	UPI000046FF5D	0	NA	ENST00000375344		ENSG00000148110	23376		47	2.54		HGNC	p.K224N		HIATL1		SNV							ENST00000375344	protein_coding	getma.org/?cm=var&var=hg19,9,97207407,A,T&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24003,hmmpanther:PTHR24003:SF510,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		K/N		T	medium	941/3420		getma.org/?cm=msa&ty=f&p=HIAL1_HUMAN&rb=32&re=394&var=K224N	deleterious(0.05)				YES	HIATL1,missense_variant,p.Lys224Asn,ENST00000375344,NM_032558.2;HIATL1,missense_variant,p.Lys159Asn,ENST00000428393,;							MODERATE	672/1521	K224N	HIAL1_HUMAN			Transcript		benign(0.285)	.	ENSP00000364493		CCDS6710.2			1	
RHAG	0	LGGM	GRCh37	6	49580220	49580220	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	30	16	.	.	ENST00000371175.4:c.835G>T	p.Gly279Ter	p.G279*	ENST00000371175	NM_000324.2	279	Gga/Tga	0	1	1	UPI000006D18F	0	NA	ENST00000371175		ENSG00000112077	10006		46	0		HGNC	p.G279X	COSM1546676	RHAG		SNV			1			1	ENST00000229810	protein_coding	getma.org/?cm=var&var=hg19,6,49580220,C,A&fts=all		Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,Prints_domain:PR00342,hmmpanther:PTHR11883,hmmpanther:PTHR11883:SF27,Transmembrane_helices:TMhelix		G/*		A	NA	862/1912		NA		Q9UL98_HUMAN,Q9UK69_HUMAN,Q9UHG8_HUMAN,Q9UBB8_HUMAN			YES	RHAG,stop_gained,p.Gly279Ter,ENST00000371175,NM_000324.2;RHAG,stop_gained,p.Gly279Ter,ENST00000229810,;					1		HIGH	835/1230	G279*	RHAG_HUMAN			Transcript			.	ENSP00000360217		CCDS4927.1			1	
ZNF527	0	LGGM	GRCh37	19	37879598	37879598	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	32	16	.	.	ENST00000436120.2:c.647A>G	p.Lys216Arg	p.K216R	ENST00000436120	NM_032453.1	216	aAg/aGg	0	1	1	UPI00002021F5	0	NA	ENST00000436120		ENSG00000189164	29385		48	1.1		HGNC	p.K216R		ZNF527		SNV							ENST00000436120	protein_coding	getma.org/?cm=var&var=hg19,19,37879598,A,G&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF71		K/R		G	low	754/2828		getma.org/?cm=msa&ty=f&p=ZN527_HUMAN&rb=55&re=254&var=K216R	deleterious(0.04)				YES	ZNF527,missense_variant,p.Lys216Arg,ENST00000436120,NM_032453.1;ZNF527,intron_variant,,ENST00000587349,;ZNF527,downstream_gene_variant,,ENST00000483919,;ZNF527,downstream_gene_variant,,ENST00000588911,;ZNF527,3_prime_UTR_variant,,ENST00000356178,;ZNF527,3_prime_UTR_variant,,ENST00000588512,;							MODERATE	647/1830	K216R	ZN527_HUMAN			Transcript		possibly_damaging(0.663)	.	ENSP00000390179		CCDS42559.1			1	
DNAH6	0	LGGM	GRCh37	2	84940243	84940243	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	50	17	.	.	ENST00000389394.3:c.9403C>A	p.Leu3135Ile	p.L3135I	ENST00000389394	NM_001370.1	3135	Cta/Ata	0	1		UPI000163AC9D	0	getma.org/pdb.php?prot=DYH6_HUMAN&from=3041&to=3271&var=L3135I	ENST00000237449		ENSG00000115423	2951		67	2.5		HGNC	p.L3135I		DNAH6		SNV							ENST00000389394	protein_coding	getma.org/?cm=var&var=hg19,2,84940243,C,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12781		L/I		A	medium	9411/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=3041&re=3271&var=L3135I	deleterious(0.02)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Leu3135Ile,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Leu3135Ile,ENST00000237449,;							MODERATE	9403/12477	L3135I	DYH6_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000237449		CCDS46348.1			1	
NLGN4X	0	LGGM	GRCh37	X	5811228	5811228	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	3	18	.	.	ENST00000381095.3:c.2081C>T	p.Ala694Val	p.A694V	ENST00000381095	NM_181332.1	694	gCg/gTg	0	1		UPI0000072EC5	0	NA	ENST00000275857		ENSG00000146938	14287		21	2.165		HGNC	p.A714V	COSM150763,COSM3406513	NLGN4X		SNV			1			1,1	ENST00000381093	protein_coding	getma.org/?cm=var&var=hg19,X,5811228,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR01090		A/V		A	medium	2545/5454		getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=591&re=790&var=A694V	deleterious(0)	B3KMT6_HUMAN				NLGN4X,missense_variant,p.Ala694Val,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Ala714Val,ENST00000381093,;NLGN4X,missense_variant,p.Ala694Val,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Ala694Val,ENST00000381092,;NLGN4X,missense_variant,p.Ala694Val,ENST00000538097,;NLGN4X,intron_variant,,ENST00000477079,;					1,1		MODERATE	2081/2451	A694V	NLGNX_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000275857		CCDS14126.1			1	
PRKAR2B	0	LGGM	GRCh37	7	106768661	106768661	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	21	18	.	.	ENST00000265717.4:c.401T>C	p.Ile134Thr	p.I134T	ENST00000265717	NM_002736.2	134	aTa/aCa	0	1	1	UPI000013D669	0	getma.org/pdb.php?prot=KAP3_HUMAN&from=45&to=171&var=I134T	ENST00000265717		ENSG00000005249	9392		39	0.67		HGNC	p.I134T		PRKAR2B		SNV							ENST00000265717	protein_coding	getma.org/?cm=var&var=hg19,7,106768661,T,C&fts=all		PIRSF_domain:PIRSF000548,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF121		I/T		C	neutral	660/3745		getma.org/?cm=msa&ty=f&p=KAP3_HUMAN&rb=45&re=171&var=I134T	tolerated(0.07)	Q75MP1_HUMAN,O60380_HUMAN,A3R6R8_HUMAN			YES	PRKAR2B,missense_variant,p.Ile134Thr,ENST00000265717,NM_002736.2;CTA-360L10.1,intron_variant,,ENST00000494849,;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000393613,;PRKAR2B,non_coding_transcript_exon_variant,,ENST00000488792,;							MODERATE	401/1257	I134T	KAP3_HUMAN			Transcript		benign(0.026)	.	ENSP00000265717		CCDS5740.1			1	
G2E3	0	LGGM	GRCh37	14	31074998	31074998	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	11	18	.	.	ENST00000206595.6:c.1298A>G	p.Asn433Ser	p.N433S	ENST00000206595	NM_017769.3	433	aAc/aGc	0	1	1	UPI000013F3A8	0	getma.org/pdb.php?prot=G2E3_HUMAN&from=392&to=695&var=N433S	ENST00000206595		ENSG00000092140	20338		29	2.125		HGNC	p.N463S		G2E3		SNV							ENST00000553504	protein_coding	getma.org/?cm=var&var=hg19,14,31074998,A,G&fts=all		Pfam_domain:PF00632,hmmpanther:PTHR12420,hmmpanther:PTHR12420:SF13,SMART_domains:SM00119,Superfamily_domains:SSF56204		N/S		G	medium	1452/5804		getma.org/?cm=msa&ty=f&p=G2E3_HUMAN&rb=392&re=695&var=N433S	deleterious(0)	G3V5B6_HUMAN,G3V3B6_HUMAN,F8W0F5_HUMAN,F8VY49_HUMAN,F5GX24_HUMAN			YES	G2E3,missense_variant,p.Asn433Ser,ENST00000206595,NM_017769.3;G2E3,missense_variant,p.Asn463Ser,ENST00000553504,;G2E3,missense_variant,p.Asn387Ser,ENST00000438909,;G2E3,downstream_gene_variant,,ENST00000552515,;G2E3,non_coding_transcript_exon_variant,,ENST00000547638,;G2E3,intron_variant,,ENST00000544007,;G2E3,intron_variant,,ENST00000548934,;G2E3,downstream_gene_variant,,ENST00000547209,;							MODERATE	1298/2121	N433S	G2E3_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000206595		CCDS9638.1			1	
CDH19	0	LGGM	GRCh37	18	64172084	64172084	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	18	18	.	.	ENST00000262150.2:c.2284T>C	p.Cys762Arg	p.C762R	ENST00000262150	NM_021153.3	762	Tgc/Cgc	0	1	1	UPI0000048ECF	0	getma.org/pdb.php?prot=CAD19_HUMAN&from=618&to=767&var=C762R	ENST00000262150		ENSG00000071991	1758		36	-0.345		HGNC	p.C762R		CDH19		SNV							ENST00000262150	protein_coding	getma.org/?cm=var&var=hg19,18,64172084,A,G&fts=all		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF255		C/R		G	neutral	2577/6341		getma.org/?cm=msa&ty=f&p=CAD19_HUMAN&rb=618&re=767&var=C762R	tolerated(0.07)	Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN			YES	CDH19,missense_variant,p.Cys762Arg,ENST00000262150,NM_021153.3;CDH19,downstream_gene_variant,,ENST00000540086,NM_001271028.1;CDH19,3_prime_UTR_variant,,ENST00000579658,;							MODERATE	2284/2319	C762R	CAD19_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000262150		CCDS11994.1			1	
PDGFRL	0	LGGM	GRCh37	8	17486112	17486112	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	4	18	.	.	ENST00000541323.1:c.622C>T	p.His208Tyr	p.H208Y	ENST00000541323	NM_006207.2	208	Cac/Tac	0	1		UPI0000070143	0	getma.org/pdb.php?prot=PGFRL_HUMAN&from=166&to=271&var=H208Y	ENST00000251630		ENSG00000104213	8805		22	2.045		HGNC	p.H208Y		PDGFRL		SNV			1				ENST00000251630	protein_coding	getma.org/?cm=var&var=hg19,8,17486112,C,T&fts=all		Superfamily_domains:SSF48726,Gene3D:2.60.40.10,hmmpanther:PTHR15360:SF1,hmmpanther:PTHR15360		H/Y		T	medium	1063/1901		getma.org/?cm=msa&ty=f&p=PGFRL_HUMAN&rb=166&re=271&var=H208Y	deleterious(0)					PDGFRL,missense_variant,p.His208Tyr,ENST00000541323,NM_006207.2;PDGFRL,missense_variant,p.His208Tyr,ENST00000251630,;PDGFRL,missense_variant,p.His208Tyr,ENST00000398074,;							MODERATE	622/1128	H208Y	PGFRL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251630		CCDS6003.1			1	
MYH11	0	LGGM	GRCh37	16	15932067	15932067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	41	18	.	.	ENST00000396324.3:c.43T>C	p.Phe15Leu	p.F15L	ENST00000396324	NM_001040114.1	15	Ttt/Ctt	0	1		UPI000012FB86	0	getma.org/pdb.php?prot=MYH11_HUMAN&from=1&to=785&var=F15L	ENST00000300036		ENSG00000133392	7569		59	2.045		HGNC	p.F15L		MYH11		SNV			1				ENST00000396324	protein_coding	getma.org/?cm=var&var=hg19,16,15932067,A,G&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335		F/L		G	medium	153/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1&re=785&var=F15L		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Phe15Leu,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Phe15Leu,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Phe15Leu,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Phe15Leu,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000571505,;							MODERATE	43/5919	F15L	MYH11_HUMAN			Transcript		benign(0.081)	.	ENSP00000300036		CCDS10565.1			1	
IARS2	0	LGGM	GRCh37	1	220284272	220284272	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	25	18	.	.	ENST00000302637.5:c.1472C>G	p.Ala491Gly	p.A491G	ENST00000302637	NM_018060.3	491	gCa/gGa	0	1		UPI00001D69E8	0	getma.org/pdb.php?prot=SYIM_HUMAN&from=87&to=712&var=A491G	ENST00000366922		ENSG00000067704	29685		43	1.385		HGNC	p.A491G		IARS2		SNV							ENST00000302637	protein_coding	getma.org/?cm=var&var=hg19,1,220284272,C,G&fts=all		Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00392,Pfam_domain:PF00133,Gene3D:3.40.50.620,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF9,HAMAP:MF_02002		A/G		G	low	1587/3557		getma.org/?cm=msa&ty=f&p=SYIM_HUMAN&rb=87&re=712&var=A491G	tolerated(0.14)	F6SBX2_HUMAN				IARS2,missense_variant,p.Ala419Gly,ENST00000366922,;IARS2,missense_variant,p.Ala491Gly,ENST00000302637,NM_018060.3;IARS2,upstream_gene_variant,,ENST00000490891,;							MODERATE	1256/2823	A491G				Transcript		benign(0.155)	.	ENSP00000355889					1	
CSH1	0	LGGM	GRCh37	17	61972586	61972586	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	91	19	.	.	ENST00000316193.8:c.457-7T>C		p.X153_splice	ENST00000316193	NM_001317.5			0	1	1	UPI0000000C48	0		ENST00000316193		ENSG00000136488	2440		110			HGNC	p.F235L		CSH1		SNV							ENST00000329882	protein_coding							G		-/900				Q7KZ35_HUMAN,P78451_HUMAN,A8K6C2_HUMAN			YES	CSH1,missense_variant,p.Phe235Leu,ENST00000329882,;CSH1,splice_region_variant,,ENST00000316193,NM_001317.5;CSH1,splice_region_variant,,ENST00000453363,;CSH1,non_coding_transcript_exon_variant,,ENST00000558284,;CSH1,downstream_gene_variant,,ENST00000558661,;							LOW	-/654		CSH_HUMAN			Transcript			.	ENSP00000316416		CCDS11649.1			1	
USP30	0	LGGM	GRCh37	12	109509436	109509436	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	20	19	.	.	ENST00000257548.5:c.500A>T	p.His167Leu	p.H167L	ENST00000257548	NM_032663.3	167	cAt/cTt	0	1	1	UPI0000037724	0	getma.org/pdb.php?prot=UBP30_HUMAN&from=66&to=499&var=H167L	ENST00000257548		ENSG00000135093	20065		39	0.805		HGNC	p.H136L		USP30		SNV							ENST00000536723	protein_coding	getma.org/?cm=var&var=hg19,12,109509436,A,T&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF354,Superfamily_domains:SSF54001		H/L		T	low	593/3742		getma.org/?cm=msa&ty=f&p=UBP30_HUMAN&rb=66&re=499&var=H167L	tolerated(0.15)	S4R3D1_HUMAN,F5H8D3_HUMAN,B3KUS5_HUMAN			YES	USP30,missense_variant,p.His167Leu,ENST00000257548,NM_032663.3;USP30,missense_variant,p.His136Leu,ENST00000392784,;USP30,missense_variant,p.His136Leu,ENST00000536723,;USP30,missense_variant,p.His106Leu,ENST00000536393,;USP30,3_prime_UTR_variant,,ENST00000377883,;USP30,non_coding_transcript_exon_variant,,ENST00000467307,;							MODERATE	500/1554	H167L	UBP30_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000257548		CCDS9123.2			1	
SEC22C	0	LGGM	GRCh37	3	42602626	42602626	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	36	19	.	.	ENST00000264454.3:c.509C>G	p.Pro170Arg	p.P170R	ENST00000264454		170	cCg/cGg	0	1	1	UPI000006D0A7	0	NA	ENST00000264454		ENSG00000093183	16828		55	1.445		HGNC	p.P170R		SEC22C		SNV							ENST00000456515	protein_coding	getma.org/?cm=var&var=hg19,3,42602626,G,C&fts=all		hmmpanther:PTHR21136:SF2,hmmpanther:PTHR21136		P/R		C	low	653/1380		getma.org/?cm=msa&ty=f&p=SC22C_HUMAN&rb=119&re=303&var=P170R	tolerated(0.41)	C9J9A4_HUMAN,C9J448_HUMAN,C9J2R1_HUMAN			YES	SEC22C,missense_variant,p.Pro92Arg,ENST00000451653,;SEC22C,missense_variant,p.Pro170Arg,ENST00000273156,NM_032970.3,NM_004206.3;SEC22C,missense_variant,p.Pro170Arg,ENST00000417572,NM_001201572.1;SEC22C,missense_variant,p.Pro170Arg,ENST00000423701,NM_001201584.1;SEC22C,missense_variant,p.Pro100Arg,ENST00000536332,;SEC22C,missense_variant,p.Pro170Arg,ENST00000264454,;SEC22C,missense_variant,p.Pro170Arg,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,;							MODERATE	509/912	P170R	SC22C_HUMAN			Transcript		benign(0.001)	.	ENSP00000264454		CCDS2700.1			1	
ANKRD13A	0	LGGM	GRCh37	12	110449853	110449853	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	37	19	.	.	ENST00000261739.4:c.140T>G	p.Leu47Arg	p.L47R	ENST00000261739	NM_033121.1	47	cTt/cGt	0	1	1	UPI000004472C	0	getma.org/pdb.php?prot=AN13A_HUMAN&from=40&to=72&var=L47R	ENST00000261739		ENSG00000076513	21268		56	1.885		HGNC	p.L47R		ANKRD13A		SNV							ENST00000261739	protein_coding	getma.org/?cm=var&var=hg19,12,110449853,T,G&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		L/R		G	low	306/4148		getma.org/?cm=msa&ty=f&p=AN13A_HUMAN&rb=40&re=72&var=L47R	deleterious(0)	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN			YES	ANKRD13A,missense_variant,p.Leu47Arg,ENST00000261739,NM_033121.1;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000550404,;ANKRD13A,5_prime_UTR_variant,,ENST00000553025,;							MODERATE	140/1773	L47R	AN13A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261739		CCDS9140.1			1	
TRPA1	0	LGGM	GRCh37	8	72967815	72967815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	101	20	.	.	ENST00000262209.4:c.1385G>T	p.Cys462Phe	p.C462F	ENST00000262209	NM_007332.2	462	tGt/tTt	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		121	2.34		HGNC	p.C462F		TRPA1		SNV			1				ENST00000262209	protein_coding	getma.org/?cm=var&var=hg19,8,72967815,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		C/F		A	medium	1593/5223		getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=445&re=480&var=C462F	deleterious(0)				YES	TRPA1,missense_variant,p.Cys462Phe,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.Cys314Phe,ENST00000523582,;RP11-383H13.1,downstream_gene_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000512290,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,splice_region_variant,,ENST00000519068,;RP11-383H13.1,downstream_gene_variant,,ENST00000522519,;TRPA1,upstream_gene_variant,,ENST00000520788,;							MODERATE	1385/3360	C462F	TRPA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262209		CCDS34908.1			1	
FGA	0	LGGM	GRCh37	4	155507750	155507750	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	63	20	.	.	ENST00000302053.3:c.831T>C	p.Tyr277=	p.Y277=	ENST00000302053	NM_000508.3	277	taT/taC	0	1	1	UPI000012A75A	0		ENST00000302053		ENSG00000171560	3661		83			HGNC	p.Y277Y	rs775544862	FGA	6.06E-05	SNV			1				ENST00000302053	protein_coding			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,Low_complexity_(Seg):seg		Y		G		910/3678				Q86Z09_HUMAN			YES	FGA,synonymous_variant,p.=,ENST00000302053,NM_000508.3;FGA,synonymous_variant,p.=,ENST00000403106,NM_021871.2;							LOW	831/2601		FIBA_HUMAN			Transcript			.	ENSP00000306361	8.24E-06	CCDS3787.1			1	
COBLL1	0	LGGM	GRCh37	2	165560967	165560967	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	42	20	.	.	ENST00000342193.4:c.1212G>C	p.Glu404Asp	p.E404D	ENST00000342193	NM_014900.4	404	gaG/gaC	0	1		UPI0000E82591	0	NA	ENST00000392717		ENSG00000082438	23571		62	0.345		HGNC	p.E442D		COBLL1		SNV							ENST00000392717	protein_coding	getma.org/?cm=var&var=hg19,2,165560967,C,G&fts=all		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2		E/D		G	neutral	1331/4749		getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=407&re=606&var=E442D	tolerated(0.28)	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN				COBLL1,missense_variant,p.Glu404Asp,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Glu404Asp,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Glu442Asp,ENST00000392717,;COBLL1,missense_variant,p.Glu442Asp,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Glu470Asp,ENST00000194871,NM_001278458.1;COBLL1,non_coding_transcript_exon_variant,,ENST00000491126,;COBLL1,downstream_gene_variant,,ENST00000434366,;COBLL1,missense_variant,p.Glu417Asp,ENST00000456171,;COBLL1,non_coding_transcript_exon_variant,,ENST00000493868,;COBLL1,non_coding_transcript_exon_variant,,ENST00000460238,;							MODERATE	1326/3615	E442D	COBL1_HUMAN			Transcript		benign(0.119)	.	ENSP00000376478					1	
PCDHA8	0	LGGM	GRCh37	5	140222192	140222192	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	47	20	.	.	ENST00000531613.1:c.1286A>G	p.Asp429Gly	p.D429G	ENST00000531613	NM_018911.2	429	gAc/gGc	0	1	1	UPI00001273D0	0	NA	ENST00000531613		ENSG00000204962	8674		67	4.24		HGNC	p.D429G		PCDHA8		SNV							ENST00000531613	protein_coding	getma.org/?cm=var&var=hg19,5,140222192,A,G&fts=all		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		D/G		G	high	1286/5260		getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=355&re=446&var=D429G	deleterious_low_confidence(0)				YES	PCDHA8,missense_variant,p.Asp429Gly,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Asp429Gly,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,,ENST00000532602,NM_031857.1;							MODERATE	1286/2853	D429G	PCDA8_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000434655		CCDS54919.1			1	
GCN1L1	0	LGGM	GRCh37	12	120567169	120567169	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	39	20	.	.	ENST00000300648.6:c.7801A>G	p.Thr2601Ala	p.T2601A	ENST00000300648	NM_006836.1	2601	Acc/Gcc	0	1	1	UPI00001FBC69	0	NA	ENST00000300648		ENSG00000089154	4199		59	2.14		HGNC	p.T2601A		GCN1L1		SNV							ENST00000300648	protein_coding	getma.org/?cm=var&var=hg19,12,120567169,T,C&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		T/A		C	medium	7814/8675		getma.org/?cm=msa&ty=f&p=GCN1L_HUMAN&rb=2508&re=2671&var=T2601A		B4DM32_HUMAN			YES	GCN1L1,missense_variant,p.Thr2601Ala,ENST00000300648,NM_006836.1;							MODERATE	7801/8016	T2601A	GCN1L_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000300648		CCDS41847.1			1	
SAMHD1	0	LGGM	GRCh37	20	35533847	35533847	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	49	21	.	.	ENST00000262878.4:c.1330A>C	p.Ile444Leu	p.I444L	ENST00000262878	NM_015474.3	444	Att/Ctt	0	1	1	UPI0000035DA0	0	getma.org/pdb.php?prot=SAMH1_HUMAN&from=320&to=519&var=I444L	ENST00000262878		ENSG00000101347	15925		70	1.345		HGNC	p.I444L		SAMHD1		SNV			1				ENST00000262878	protein_coding	getma.org/?cm=var&var=hg19,20,35533847,T,G&fts=all		hmmpanther:PTHR11373:SF4,hmmpanther:PTHR11373,Superfamily_domains:SSF109604		I/L		G	low	1530/4784		getma.org/?cm=msa&ty=f&p=SAMH1_HUMAN&rb=320&re=519&var=I444L	tolerated(0.05)	A6NDZ3_HUMAN			YES	SAMHD1,missense_variant,p.Ile444Leu,ENST00000262878,NM_015474.3;SAMHD1,upstream_gene_variant,,ENST00000465985,;							MODERATE	1330/1881	I444L	SAMH1_HUMAN			Transcript		benign(0.02)	.	ENSP00000262878		CCDS13288.1			1	
ADNP2	0	LGGM	GRCh37	18	77895407	77895407	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	42	21	.	.	ENST00000262198.4:c.2111C>A	p.Pro704Gln	p.P704Q	ENST00000262198	NM_014913.3	704	cCg/cAg	0	1	1	UPI0000071DEA	0	NA	ENST00000262198		ENSG00000101544	23803		63	2.085		HGNC	p.P704Q		ADNP2		SNV							ENST00000262198	protein_coding	getma.org/?cm=var&var=hg19,18,77895407,C,A&fts=all		hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740,SMART_domains:SM00355		P/Q		A	medium	2566/5393		getma.org/?cm=msa&ty=f&p=ADNP2_HUMAN&rb=601&re=800&var=P704Q	deleterious(0)	H0YLN6_HUMAN			YES	ADNP2,missense_variant,p.Pro704Gln,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;							MODERATE	2111/3396	P704Q	ADNP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262198		CCDS32853.1			1	
ZNF318	0	LGGM	GRCh37	6	43305781	43305781	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	56	22	.	.	ENST00000361428.2:c.5955C>G	p.Val1985=	p.V1985=	ENST00000361428	NM_014345.2	1985	gtC/gtG	0	1	1	UPI000049E044	0		ENST00000361428		ENSG00000171467	13578		78			HGNC	p.V1985V		ZNF318		SNV							ENST00000361428	protein_coding			hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		V		C		6033/8006							YES	ZNF318,synonymous_variant,p.=,ENST00000361428,NM_014345.2;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000605935,;							LOW	5955/6840		ZN318_HUMAN			Transcript			.	ENSP00000354964		CCDS4895.2			1	
PLEKHA5	0	LGGM	GRCh37	12	19410423	19410423	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	56	23	.	.	ENST00000429027.2:c.489A>T	p.Lys163Asn	p.K163N	ENST00000429027	NM_001256470.1	163	aaA/aaT	0	1		UPI0000040B78	0	NA	ENST00000299275		ENSG00000052126	30036		79	1.905		HGNC	p.K163N		PLEKHA5		SNV							ENST00000538714	protein_coding	getma.org/?cm=var&var=hg19,12,19410423,A,T&fts=all		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3,Superfamily_domains:SSF50729		K/N		T	medium	495/4238		getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=88&re=169&var=K163N	deleterious(0)	F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN				PLEKHA5,missense_variant,p.Lys163Asn,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Lys163Asn,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Lys163Asn,ENST00000317589,;PLEKHA5,missense_variant,p.Lys163Asn,ENST00000355397,;PLEKHA5,missense_variant,p.Lys55Asn,ENST00000424268,;PLEKHA5,missense_variant,p.Lys163Asn,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Lys163Asn,ENST00000359180,;PLEKHA5,missense_variant,p.Lys55Asn,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Lys55Asn,ENST00000536974,;PLEKHA5,missense_variant,p.Lys163Asn,ENST00000309364,;PLEKHA5,missense_variant,p.Lys55Asn,ENST00000538305,;PLEKHA5,5_prime_UTR_variant,,ENST00000539256,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000510738,;PLEKHA5,downstream_gene_variant,,ENST00000538034,;PLEKHA5,downstream_gene_variant,,ENST00000534979,;							MODERATE	489/3351	K163N	PKHA5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000299275		CCDS8682.1			1	
BCLAF1	0	LGGM	GRCh37	6	136589332	136589332	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	79	23	.	.	ENST00000531224.1:c.2365T>G	p.Phe789Val	p.F789V	ENST00000531224	NM_001077441.1	789	Ttt/Gtt	0	1	1	UPI000006FCE7	0	NA	ENST00000531224		ENSG00000029363	16863		102	0.895		HGNC	p.F616V		BCLAF1		SNV							ENST00000530767	protein_coding	getma.org/?cm=var&var=hg19,6,136589332,A,C&fts=all		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4		F/V		C	low	2618/7263		getma.org/?cm=msa&ty=f&p=BCLF1_HUMAN&rb=756&re=920&var=F789V	tolerated(0.16)	B0AZU3_HUMAN			YES	BCLAF1,missense_variant,p.Phe789Val,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,missense_variant,p.Phe787Val,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Phe789Val,ENST00000527536,;BCLAF1,missense_variant,p.Phe787Val,ENST00000527759,;BCLAF1,missense_variant,p.Phe616Val,ENST00000530767,;BCLAF1,missense_variant,p.Phe787Val,ENST00000392348,;BCLAF1,missense_variant,p.Phe7Val,ENST00000031135,;BCLAF1,missense_variant,p.Phe56Val,ENST00000534762,;BCLAF1,downstream_gene_variant,,ENST00000529826,;BCLAF1,non_coding_transcript_exon_variant,,ENST00000529917,;BCLAF1,missense_variant,p.Phe44Val,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,;BCLAF1,downstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000532076,;BCLAF1,downstream_gene_variant,,ENST00000534792,;BCLAF1,downstream_gene_variant,,ENST00000534321,;							MODERATE	2365/2763	F789V	BCLF1_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000435210		CCDS5177.1			1	
ZNF114	0	LGGM	GRCh37	19	48789989	48789989	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	67	23	.	.	ENST00000595607.1:c.1108A>G	p.Ile370Val	p.I370V	ENST00000595607		370	Att/Gtt	0	1		UPI000007282E	0	getma.org/pdb.php?prot=ZN114_HUMAN&from=346&to=370&var=I370V	ENST00000315849		ENSG00000178150	12894		90	0.225		HGNC	p.I370V		ZNF114		SNV							ENST00000315849	protein_coding	getma.org/?cm=var&var=hg19,19,48789989,A,G&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF6,SMART_domains:SM00355,Superfamily_domains:SSF57667		I/V		G	neutral	1332/2206		getma.org/?cm=msa&ty=f&p=ZN114_HUMAN&rb=326&re=390&var=I370V	deleterious(0.02)	Q8N4J1_HUMAN				ZNF114,missense_variant,p.Ile370Val,ENST00000595607,;ZNF114,missense_variant,p.Ile370Val,ENST00000315849,NM_153608.1;ZNF114,missense_variant,p.Ile336Val,ENST00000597695,;ZNF114,missense_variant,p.Ile370Val,ENST00000600687,;ZNF114,downstream_gene_variant,,ENST00000595408,;ZNF114,downstream_gene_variant,,ENST00000594024,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;							MODERATE	1108/1254	I370V	ZN114_HUMAN			Transcript		benign(0.112)	.	ENSP00000318898		CCDS12713.1			1	
MYO1H	0	LGGM	GRCh37	12	109845604	109845604	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	51	24	.	.	ENST00000310903.5:c.993del	p.Cys332AlafsTer3	p.C332Afs*3	ENST00000310903		331	atC/at	0	1	1	UPI0001AFF951	0		ENST00000310903		ENSG00000174527	13879		75			HGNC	p.I331fs		MYO1H		deletion							ENST00000310903	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,SMART_domains:SM00242,Superfamily_domains:SSF52540		I/X		-		1099/4364				S4R387_HUMAN,F5H3C6_HUMAN			YES	MYO1H,frameshift_variant,p.Cys332AlafsTer3,ENST00000310903,;MYO1H,frameshift_variant,p.Cys332AlafsTer3,ENST00000431443,NM_001101421.3;MYO1H,non_coding_transcript_exon_variant,,ENST00000542883,;							HIGH	993/3069					Transcript			.	ENSP00000439182		CCDS53826.1			1	
SELP	0	LGGM	GRCh37	1	169586439	169586439	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	66	25	.	.	ENST00000263686.6:c.308G>A	p.Trp103Ter	p.W103*	ENST00000263686	NM_003005.3	103	tGg/tAg	0	1	1	UPI0000204D4A	0	NA	ENST00000263686		ENSG00000174175	10721		91	0		HGNC	p.W88X		SELP		SNV			1				ENST00000458599	protein_coding	getma.org/?cm=var&var=hg19,1,169586439,C,T&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF19,SMART_domains:SM00034,Superfamily_domains:SSF56436		W/*		T	NA	346/3142		NA		Q6ULR6_HUMAN			YES	SELP,stop_gained,p.Trp103Ter,ENST00000263686,NM_003005.3;SELP,stop_gained,p.Trp102Ter,ENST00000426706,;SELP,stop_gained,p.Trp103Ter,ENST00000367793,;SELP,stop_gained,p.Trp103Ter,ENST00000367794,;SELP,stop_gained,p.Trp103Ter,ENST00000367792,;SELP,stop_gained,p.Trp103Ter,ENST00000367791,;SELP,stop_gained,p.Trp103Ter,ENST00000367788,;SELP,stop_gained,p.Trp103Ter,ENST00000367786,;SELP,stop_gained,p.Trp103Ter,ENST00000458599,;SELP,stop_gained,p.Trp103Ter,ENST00000367795,;							HIGH	308/2493	W103*	LYAM3_HUMAN			Transcript			.	ENSP00000263686		CCDS1282.1			1	
ALG8	0	LGGM	GRCh37	11	77835208	77835208	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	69	25	.	.	ENST00000299626.5:c.227A>G	p.Tyr76Cys	p.Y76C	ENST00000299626	NM_024079.4	76	tAt/tGt	0	1	1	UPI000013E5C8	0	NA	ENST00000299626		ENSG00000159063	23161		94	2.295		HGNC	p.Y76C		ALG8		SNV			1				ENST00000376156	protein_coding	getma.org/?cm=var&var=hg19,11,77835208,T,C&fts=all		hmmpanther:PTHR12413,hmmpanther:PTHR12413:SF2,Pfam_domain:PF03155		Y/C		C	medium	299/1675		getma.org/?cm=msa&ty=f&p=ALG8_HUMAN&rb=19&re=514&var=Y76C	tolerated(0.08)	E9PR58_HUMAN,E9PKA5_HUMAN			YES	ALG8,missense_variant,p.Tyr76Cys,ENST00000376156,NM_001007027.2;ALG8,missense_variant,p.Tyr76Cys,ENST00000299626,NM_024079.4;ALG8,missense_variant,p.Tyr77Cys,ENST00000530454,;ALG8,missense_variant,p.Tyr67Cys,ENST00000530910,;ALG8,missense_variant,p.Tyr25Cys,ENST00000525755,;ALG8,missense_variant,p.Tyr50Cys,ENST00000525761,;ALG8,5_prime_UTR_variant,,ENST00000527099,;ALG8,5_prime_UTR_variant,,ENST00000525870,;ALG8,upstream_gene_variant,,ENST00000532306,;ALG8,upstream_gene_variant,,ENST00000529139,;ALG8,intron_variant,,ENST00000532552,;ALG8,missense_variant,p.Tyr76Cys,ENST00000526737,;ALG8,missense_variant,p.Tyr76Cys,ENST00000532050,;							MODERATE	227/1581	Y76C	ALG8_HUMAN			Transcript		benign(0.061)	.	ENSP00000299626		CCDS8258.1			1	
SLITRK6	0	LGGM	GRCh37	13	86369740	86369740	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	49	26	.	.	ENST00000400286.2:c.904T>C	p.Ser302Pro	p.S302P	ENST00000400286	NM_032229.2	302	Tcc/Ccc	0	1	1	UPI000004C9D6	0	getma.org/pdb.php?prot=SLIK6_HUMAN&from=196&to=386&var=S302P	ENST00000400286		ENSG00000184564	23503		75	0.785		HGNC	p.S302P		SLITRK6		SNV			1				ENST00000400286	protein_coding	getma.org/?cm=var&var=hg19,13,86369740,A,G&fts=all		hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373		S/P		G	neutral	1503/4318		getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=196&re=386&var=S302P	tolerated(0.4)				YES	SLITRK6,missense_variant,p.Ser302Pro,ENST00000400286,NM_032229.2;							MODERATE	904/2526	S302P	SLIK6_HUMAN			Transcript		benign(0)	.	ENSP00000383143		CCDS41903.1			1	
C1orf173	0	LGGM	GRCh37	1	75036885	75036885	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	57	26	.	.	ENST00000326665.5:c.4509C>T	p.Phe1503=	p.F1503=	ENST00000326665	NM_001002912.4	1503	ttC/ttT	0	1	1	UPI0000237200	0		ENST00000326665		ENSG00000178965	25346		83			HGNC	p.F1503F		C1orf173		SNV							ENST00000326665	protein_coding					F		A		4728/7159							YES	C1orf173,synonymous_variant,p.=,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;							LOW	4509/4593		CA173_HUMAN			Transcript			.	ENSP00000322609		CCDS30755.1			1	
CEP57	0	LGGM	GRCh37	11	95532495	95532495	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	60	26	.	.	ENST00000325542.5:c.145G>A	p.Asp49Asn	p.D49N	ENST00000325542	NM_001243776.1	49	Gat/Aat	0	1	1	UPI0000070D0B	0	NA	ENST00000325542		ENSG00000166037	30794		86	1.39		HGNC	p.D49N	rs368437597	CEP57		SNV			1				ENST00000538658	protein_coding	getma.org/?cm=var&var=hg19,11,95532495,G,A&fts=all		hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF11		D/N		A	low	383/3178		getma.org/?cm=msa&ty=f&p=CEP57_HUMAN&rb=1&re=67&var=D49N	tolerated(0.15)	F5H1B0_HUMAN,F5GYW0_HUMAN			YES	CEP57,missense_variant,p.Asp49Asn,ENST00000325542,NM_001243776.1,NM_014679.4;CEP57,missense_variant,p.Asp49Asn,ENST00000325486,NM_001243777.1;CEP57,missense_variant,p.Asp40Asn,ENST00000541150,;CEP57,missense_variant,p.Asp49Asn,ENST00000538658,;CEP57,missense_variant,p.Asp22Asn,ENST00000537677,;CEP57,missense_variant,p.Asp22Asn,ENST00000541365,;CEP57,missense_variant,p.Asp40Asn,ENST00000544522,;CEP57,missense_variant,p.Asp49Asn,ENST00000540830,;CEP57,missense_variant,p.Asp49Asn,ENST00000539855,;CEP57,3_prime_UTR_variant,,ENST00000538095,;CEP57,intron_variant,,ENST00000535497,;	0.000347						MODERATE	145/1503	D49N	CEP57_HUMAN			Transcript		benign(0.427)	.	ENSP00000317902	2.47E-05	CCDS8304.1			1	
ATAD2B	0	LGGM	GRCh37	2	24021043	24021043	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	50	26	.	.	ENST00000238789.5:c.2605A>T	p.Thr869Ser	p.T869S	ENST00000238789	NM_001242338.1	869	Acc/Tcc	0	1	1	UPI00006C0425	0	NA	ENST00000238789		ENSG00000119778	29230		76	2.63		HGNC	p.T869S		ATAD2B		SNV							ENST00000238789	protein_coding	getma.org/?cm=var&var=hg19,2,24021043,T,A&fts=all		hmmpanther:PTHR23069:SF2,hmmpanther:PTHR23069,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		T/S		A	medium	2949/8103		getma.org/?cm=msa&ty=f&p=ATD2B_HUMAN&rb=773&re=966&var=T869S	deleterious(0.03)	B3KWS5_HUMAN			YES	ATAD2B,missense_variant,p.Thr869Ser,ENST00000238789,NM_001242338.1,NM_017552.2;ATAD2B,missense_variant,p.Thr150Ser,ENST00000381024,;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,;							MODERATE	2605/4377	T869S	ATD2B_HUMAN			Transcript		possibly_damaging(0.473)	.	ENSP00000238789		CCDS46227.1			1	
OR8D2	0	LGGM	GRCh37	11	124189501	124189501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	42	26	.	.	ENST00000357438.2:c.593T>C	p.Leu198Pro	p.L198P	ENST00000357438	NM_001002918.1	198	cTg/cCg	0	1	1	UPI0000041D8E	0	NA	ENST00000357438		ENSG00000197263	8482		68	3.115		HGNC	p.L198P		OR8D2		SNV							ENST00000357438	protein_coding	getma.org/?cm=var&var=hg19,11,124189501,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF278,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/P		G	medium	684/1051		getma.org/?cm=msa&ty=f&p=OR8D2_HUMAN&rb=139&re=283&var=L198P	deleterious(0)				YES	OR8D2,missense_variant,p.Leu198Pro,ENST00000357438,NM_001002918.1;							MODERATE	593/936	L198P	OR8D2_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000350022		CCDS31707.1			1	
AGK	0	LGGM	GRCh37	7	141333725	141333725	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	49	27	.	.	ENST00000355413.4:c.613G>A	p.Ala205Thr	p.A205T	ENST00000355413	NM_018238.3	205	Gca/Aca	0	1	1	UPI000006E622	0	NA	ENST00000355413		ENSG00000006530	21869		76	2.57		HGNC	p.A177T		AGK		SNV			1				ENST00000473247	protein_coding	getma.org/?cm=var&var=hg19,7,141333725,G,A&fts=all		hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF7,Superfamily_domains:SSF111331		A/T		A	medium	873/3849		getma.org/?cm=msa&ty=f&p=AGK_HUMAN&rb=197&re=255&var=A205T	deleterious(0)	A4D1U5_HUMAN			YES	AGK,missense_variant,p.Ala205Thr,ENST00000355413,NM_018238.3;AGK,missense_variant,p.Ala177Thr,ENST00000473247,;AGK,missense_variant,p.Ala202Thr,ENST00000535825,;AGK,missense_variant,p.Ala202Thr,ENST00000494688,;							MODERATE	613/1269	A205T	AGK_HUMAN			Transcript		possibly_damaging(0.502)	.	ENSP00000347581		CCDS5865.1			1	
SLC17A4	0	LGGM	GRCh37	6	25771179	25771179	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	78	27	.	.	ENST00000377905.4:c.645T>A	p.Val215=	p.V215=	ENST00000377905	NM_005495.2	215	gtT/gtA	0	1	1	UPI0000073585	0		ENST00000377905		ENSG00000146039	10932		105			HGNC	p.V215V		SLC17A4		SNV							ENST00000377905	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF25,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		V		A		764/3616							YES	SLC17A4,synonymous_variant,p.=,ENST00000377905,NM_005495.2,NM_001286121.1;SLC17A4,intron_variant,,ENST00000397076,;SLC17A4,intron_variant,,ENST00000439485,;							LOW	645/1494		S17A4_HUMAN			Transcript			.	ENSP00000367137		CCDS4564.1			1	
CA3	0	LGGM	GRCh37	8	86358488	86358488	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	15	28	.	.	ENST00000285381.2:c.625C>A	p.Leu209Met	p.L209M	ENST00000285381	NM_005181.3	209	Ctg/Atg	0	1	1	UPI0000049C1A	0	getma.org/pdb.php?prot=CAH3_HUMAN&from=5&to=259&var=L209M	ENST00000285381		ENSG00000164879	1374		43	1.45		HGNC	p.L209M		CA3		SNV							ENST00000285381	protein_coding	getma.org/?cm=var&var=hg19,8,86358488,C,A&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF96,hmmpanther:PTHR18952,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		L/M		A	low	708/1753		getma.org/?cm=msa&ty=f&p=CAH3_HUMAN&rb=5&re=259&var=L209M	deleterious(0.04)	E5RHI4_HUMAN			YES	CA3,missense_variant,p.Leu209Met,ENST00000285381,NM_005181.3;CA3,downstream_gene_variant,,ENST00000520921,;RP11-317J10.2,intron_variant,,ENST00000521761,;RP11-317J10.2,intron_variant,,ENST00000517697,;CA3,downstream_gene_variant,,ENST00000522207,;							MODERATE	625/783	L209M	CAH3_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000285381		CCDS6238.1			1	
LYN	0	LGGM	GRCh37	8	56854497	56854497	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	52	28	.	.	ENST00000519728.1:c.79A>G	p.Thr27Ala	p.T27A	ENST00000519728	NM_002350.3	27	Act/Gct	0	1	1	UPI000013DACD	0	NA	ENST00000519728		ENSG00000254087	6735		80	1.04		HGNC	p.T27A		LYN		SNV							ENST00000519728	protein_coding	getma.org/?cm=var&var=hg19,8,56854497,A,G&fts=all		hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418		T/A		G	low	375/2297		getma.org/?cm=msa&ty=f&p=LYN_HUMAN&rb=1&re=68&var=T27A	tolerated(0.78)	E5RJ37_HUMAN,B4DQ79_HUMAN			YES	LYN,missense_variant,p.Thr27Ala,ENST00000519728,NM_002350.3;LYN,missense_variant,p.Thr27Ala,ENST00000520050,;LYN,intron_variant,,ENST00000520220,NM_001111097.2;							MODERATE	79/1539	T27A	LYN_HUMAN			Transcript		benign(0.002)	.	ENSP00000428924		CCDS6162.1			1	
RPL26L1	0	LGGM	GRCh37	5	172386957	172386957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	57	29	.	.	ENST00000521476.1:c.81G>T	p.Arg27Ser	p.R27S	ENST00000521476		27	agG/agT	0	1		UPI000011E3D3	0	getma.org/pdb.php?prot=RL26L_HUMAN&from=1&to=50&var=R27S	ENST00000265100		ENSG00000037241	17050		86	2.4		HGNC	p.R27S		RPL26L1		SNV							ENST00000519239	protein_coding	getma.org/?cm=var&var=hg19,5,172386957,G,T&fts=all		Gene3D:2.30.30.30,HAMAP:MF_01326_A,hmmpanther:PTHR11143,Superfamily_domains:SSF50104,TIGRFAM_domain:TIGR01080		R/S		T	medium	135/722		getma.org/?cm=msa&ty=f&p=RL26L_HUMAN&rb=1&re=50&var=R27S	deleterious(0.01)	E5RIT6_HUMAN,E5RHH1_HUMAN				RPL26L1,missense_variant,p.Arg27Ser,ENST00000521476,;RPL26L1,missense_variant,p.Arg27Ser,ENST00000265100,NM_016093.2;RPL26L1,missense_variant,p.Arg27Ser,ENST00000519974,;RPL26L1,missense_variant,p.Arg27Ser,ENST00000519239,;RPL26L1,missense_variant,p.Arg27Ser,ENST00000519156,;RPL26L1,missense_variant,p.Arg27Ser,ENST00000519522,;CTC-308K20.2,downstream_gene_variant,,ENST00000519755,;CTC-308K20.1,upstream_gene_variant,,ENST00000518818,;CTC-308K20.1,upstream_gene_variant,,ENST00000520067,;CTC-308K20.1,upstream_gene_variant,,ENST00000518894,;							MODERATE	81/438	R27S	RL26L_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000265100		CCDS4382.1			1	
ST7	0	LGGM	GRCh37	7	116771945	116771945	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	52	29	.	.	ENST00000265437.5:c.572A>C	p.Gln191Pro	p.Q191P	ENST00000265437	NM_021908.2	191	cAg/cCg	0	1	1	UPI00000702A3	0	NA	ENST00000265437		ENSG00000004866	11351		81	2.72		HGNC	p.Q191P		ST7		SNV							ENST00000446490	protein_coding	getma.org/?cm=var&var=hg19,7,116771945,A,C&fts=all		hmmpanther:PTHR12745,Pfam_domain:PF04184		Q/P		C	medium	786/2899		getma.org/?cm=msa&ty=f&p=ST7_HUMAN&rb=16&re=571&var=Q191P	deleterious(0.01)	Q9NRC0_HUMAN,C9JZV9_HUMAN,C9JX79_HUMAN,C9JRQ0_HUMAN,C9JCI7_HUMAN			YES	ST7,missense_variant,p.Gln191Pro,ENST00000265437,NM_021908.2;ST7,missense_variant,p.Gln141Pro,ENST00000393443,;ST7,missense_variant,p.Gln148Pro,ENST00000393447,;ST7,missense_variant,p.Gln148Pro,ENST00000465133,;ST7,missense_variant,p.Gln191Pro,ENST00000323984,;ST7,missense_variant,p.Gln191Pro,ENST00000393449,;ST7,missense_variant,p.Gln191Pro,ENST00000393446,;ST7,missense_variant,p.Gln148Pro,ENST00000393444,;ST7,missense_variant,p.Gln191Pro,ENST00000393451,NM_018412.3;ST7,missense_variant,p.Gln145Pro,ENST00000432298,;ST7,missense_variant,p.Gln145Pro,ENST00000422922,;ST7,missense_variant,p.Gln191Pro,ENST00000446490,;ST7,missense_variant,p.Gln139Pro,ENST00000490039,;ST7,incomplete_terminal_codon_variant,p.=,ENST00000420755,;ST7,downstream_gene_variant,,ENST00000477742,;ST7,downstream_gene_variant,,ENST00000449366,;ST7-AS2,intron_variant,,ENST00000432541,;ST7-AS2,intron_variant,,ENST00000434993,;ST7-AS2,intron_variant,,ENST00000442719,;ST7,non_coding_transcript_exon_variant,,ENST00000487459,;ST7,non_coding_transcript_exon_variant,,ENST00000489293,;ST7,downstream_gene_variant,,ENST00000467538,;ST7,3_prime_UTR_variant,,ENST00000438863,;ST7,intron_variant,,ENST00000443979,;							MODERATE	572/1758	Q191P	ST7_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265437		CCDS5770.1			1	
ZFPM2	0	LGGM	GRCh37	8	106814917	106814917	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	112	30	.	.	ENST00000407775.2:c.2607T>A	p.Tyr869Ter	p.Y869*	ENST00000407775	NM_012082.3	869	taT/taA	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		142	0		HGNC	p.Y737X		ZFPM2		SNV			1				ENST00000520492	protein_coding	getma.org/?cm=var&var=hg19,8,106814917,T,A&fts=all		Pfam_domain:PF13912,hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/*		A	NA	2857/4700		NA		Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,stop_gained,p.Tyr869Ter,ENST00000407775,NM_012082.3;ZFPM2,stop_gained,p.Tyr737Ter,ENST00000520492,;ZFPM2,stop_gained,p.Tyr737Ter,ENST00000517361,;ZFPM2,stop_gained,p.Tyr600Ter,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							HIGH	2607/3456	Y869*	FOG2_HUMAN			Transcript			.	ENSP00000384179		CCDS47908.1			1	
SPZ1	0	LGGM	GRCh37	5	79616565	79616565	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	61	30	.	.	ENST00000296739.4:c.531T>C	p.Val177=	p.V177=	ENST00000296739	NM_032567.3	177	gtT/gtC	0	1	1	UPI000020CBA6	0		ENST00000296739		ENSG00000164299	30721		91			HGNC	p.V177V		SPZ1		SNV							ENST00000296739	protein_coding			hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF40		V		C		776/1872				D6RFL8_HUMAN			YES	SPZ1,synonymous_variant,p.=,ENST00000296739,NM_032567.3;SPZ1,synonymous_variant,p.=,ENST00000511881,;CTC-512J14.1,downstream_gene_variant,,ENST00000460281,;							LOW	531/1293		SPZ1_HUMAN			Transcript			.	ENSP00000369611		CCDS43336.1			1	
TTC28	0	LGGM	GRCh37	22	28503398	28503398	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	74	30	.	.	ENST00000397906.2:c.2435T>C	p.Met812Thr	p.M812T	ENST00000397906	NM_001145418.1	812	aTg/aCg	0	1	1	UPI00003E58F8	0	NA	ENST00000397906		ENSG00000100154	29179		104	0.41		HGNC	p.M812T		TTC28		SNV							ENST00000397906	protein_coding	getma.org/?cm=var&var=hg19,22,28503398,A,G&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF00515,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106,SMART_domains:SM00028,Superfamily_domains:SSF48452		M/T		G	neutral	2577/11793		getma.org/?cm=msa&ty=f&p=TTC28_HUMAN&rb=794&re=823&var=M812T	tolerated(0.82)				YES	TTC28,missense_variant,p.Met812Thr,ENST00000397906,NM_001145418.1;							MODERATE	2435/7446	M812T	TTC28_HUMAN			Transcript		benign(0.015)	.	ENSP00000381003		CCDS46678.1			1	
ITPR2	0	LGGM	GRCh37	12	26568410	26568410	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	68	30	.	.	ENST00000381340.3:c.7132G>T	p.Glu2378Ter	p.E2378*	ENST00000381340	NM_002223.2	2378	Gaa/Taa	0	1	1	UPI00001FB7D2	0	NA	ENST00000381340		ENSG00000123104	6181		98	0		HGNC	p.E2378X		ITPR2		SNV							ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26568410,C,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13715		E/*		A	NA	7549/10511		NA		I1VE21_HUMAN			YES	ITPR2,stop_gained,p.Glu2378Ter,ENST00000381340,NM_002223.2;RP11-513G19.1,intron_variant,,ENST00000535324,;ITPR2,3_prime_UTR_variant,,ENST00000451599,;ITPR2,non_coding_transcript_exon_variant,,ENST00000538984,;							HIGH	7132/8106	E2378*	ITPR2_HUMAN			Transcript			.	ENSP00000370744		CCDS41764.1			1	
STAT3	0	LGGM	GRCh37	17	40481576	40481576	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	49	58	.	.	ENST00000264657.5:c.1229A>C	p.His410Pro	p.H410P	ENST00000264657	NM_139276.2	410	cAc/cCc	0	1	1	UPI0000031047	0	getma.org/pdb.php?prot=STAT3_HUMAN&from=321&to=574&var=H410P	ENST00000264657		ENSG00000168610	11364		107	2.395		HGNC	p.H410P		STAT3		SNV			1				ENST00000264657	protein_coding	getma.org/?cm=var&var=hg19,17,40481576,T,G&fts=all		hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417		H/P		G	medium	1542/5047		getma.org/?cm=msa&ty=f&p=STAT3_HUMAN&rb=321&re=574&var=H410P	deleterious(0)	G8JLH9_HUMAN			YES	STAT3,missense_variant,p.His410Pro,ENST00000264657,NM_139276.2,NM_003150.3;STAT3,missense_variant,p.His410Pro,ENST00000585517,NM_213662.1;STAT3,missense_variant,p.His410Pro,ENST00000588969,;STAT3,missense_variant,p.His410Pro,ENST00000404395,;STAT3,missense_variant,p.His312Pro,ENST00000389272,;STAT3,upstream_gene_variant,,ENST00000471989,;STAT3,upstream_gene_variant,,ENST00000498330,;STAT3,downstream_gene_variant,,ENST00000478276,;							MODERATE	1229/2313	H410P	STAT3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264657		CCDS32656.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43770457	43770457	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	79	35	.	.	ENST00000389420.3:c.4996-1G>A		p.X1666_splice	ENST00000389420	NM_025003.3			0	1	1	UPI00004565F4	0		ENST00000389420		ENSG00000173157	17178		114			HGNC	-		ADAMTS20		SNV							ENST00000389420	protein_coding							T		-/6076							YES	ADAMTS20,splice_acceptor_variant,,ENST00000389420,NM_025003.3;							HIGH	4996/5733		ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
BRMS1	0	LGGM	GRCh37	11	66109076	66109076	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	82	35	.	.	ENST00000425825.2:c.158A>G	p.Tyr53Cys	p.Y53C	ENST00000425825	NM_001024957.1	53	tAt/tGt	0	1		UPI0000126ADA	0	NA	ENST00000359957		ENSG00000174744	17262		117	-1.445		HGNC	p.Y53C		BRMS1		SNV							ENST00000425825	protein_coding	getma.org/?cm=var&var=hg19,11,66109076,T,C&fts=all		hmmpanther:PTHR21964,hmmpanther:PTHR21964:SF9,Low_complexity_(Seg):seg		Y/C		C	neutral	319/1445		getma.org/?cm=msa&ty=f&p=BRMS1_HUMAN&rb=1&re=57&var=Y53C	tolerated(1)	E9PJF5_HUMAN				BRMS1,missense_variant,p.Tyr53Cys,ENST00000359957,NM_015399.3;BRMS1,missense_variant,p.Tyr53Cys,ENST00000425825,NM_001024957.1;BRMS1,missense_variant,p.Tyr16Cys,ENST00000524699,;BRMS1,missense_variant,p.Tyr53Cys,ENST00000530756,;RIN1,upstream_gene_variant,,ENST00000530056,;B3GNT1,downstream_gene_variant,,ENST00000311181,NM_006876.2;RP11-867G23.12,downstream_gene_variant,,ENST00000526655,;BRMS1,missense_variant,p.Tyr53Cys,ENST00000527375,;BRMS1,non_coding_transcript_exon_variant,,ENST00000530238,;BRMS1,non_coding_transcript_exon_variant,,ENST00000534617,;BRMS1,non_coding_transcript_exon_variant,,ENST00000525127,;BRMS1,downstream_gene_variant,,ENST00000529544,;							MODERATE	158/741	Y53C	BRMS1_HUMAN			Transcript		benign(0.001)	.	ENSP00000353042		CCDS8135.1			1	
CMYA5	0	LGGM	GRCh37	5	79027098	79027098	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	79	36	.	.	ENST00000446378.2:c.2510G>T	p.Gly837Val	p.G837V	ENST00000446378	NM_153610.3	837	gGc/gTc	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		115	0.69		HGNC	p.G837V	COSM3856507,COSM3856506	CMYA5		SNV						1,1	ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79027098,G,T&fts=all		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7		G/V		T	neutral	2541/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=801&re=1000&var=G837V					YES	CMYA5,missense_variant,p.Gly837Val,ENST00000446378,NM_153610.3;					1,1		MODERATE	2510/12210	G837V	CMYA5_HUMAN			Transcript		benign(0.074)	.	ENSP00000394770		CCDS47238.1			1	
MYL12A	0	LGGM	GRCh37	18	3253346	3253346	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	80	37	.	.	ENST00000217652.3:c.101A>G	p.Lys34Arg	p.K34R	ENST00000217652	NM_006471.2	34	aAa/aGa	0	1	1	UPI0000000DFE	0	getma.org/pdb.php?prot=ML12A_HUMAN&from=32&to=60&var=K34R	ENST00000217652		ENSG00000101608	16701		117	1.835		HGNC	p.K40R		MYL12A		SNV							ENST00000580887	protein_coding	getma.org/?cm=var&var=hg19,18,3253346,A,G&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF00036,PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF33,SMART_domains:SM00054,Superfamily_domains:SSF47473		K/R		G	low	496/1229		getma.org/?cm=msa&ty=f&p=ML12A_HUMAN&rb=12&re=80&var=K34R	deleterious(0.02)	Q53X45_HUMAN,Q2F834_HUMAN,J3KTJ1_HUMAN			YES	MYL12A,missense_variant,p.Lys34Arg,ENST00000217652,NM_006471.2;MYL12A,missense_variant,p.Lys34Arg,ENST00000578611,;MYL12A,missense_variant,p.Lys34Arg,ENST00000579226,;MYL12A,missense_variant,p.Lys40Arg,ENST00000580887,;MYL12A,missense_variant,p.Lys34Arg,ENST00000536605,;MYL12A,missense_variant,p.Lys34Arg,ENST00000578562,;MYL12A,downstream_gene_variant,,ENST00000583449,;RP13-270P17.1,downstream_gene_variant,,ENST00000578800,;RP13-270P17.1,downstream_gene_variant,,ENST00000581905,;MYL12A,downstream_gene_variant,,ENST00000585090,;MYL12A,upstream_gene_variant,,ENST00000578038,;MYL12A,non_coding_transcript_exon_variant,,ENST00000577510,;MYL12A,non_coding_transcript_exon_variant,,ENST00000580353,;MYL12A,downstream_gene_variant,,ENST00000608786,;							MODERATE	101/516	K34R	ML12A_HUMAN			Transcript		possibly_damaging(0.455)	.	ENSP00000217652		CCDS11830.1			1	
ACADS	0	LGGM	GRCh37	12	121164882	121164882	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	50	37	.	.	ENST00000242592.4:c.100C>G	p.Leu34Val	p.L34V	ENST00000242592	NM_000017.2	34	Ctg/Gtg	0	1	1	UPI000004A863	0	NA	ENST00000242592		ENSG00000122971	90		87	0		HGNC	p.L34V		ACADS		SNV			1				ENST00000242592	protein_coding	getma.org/?cm=var&var=hg19,12,121164882,C,G&fts=all		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Gene3D:1.10.540.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645		L/V		G	neutral	251/1950		getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=1&re=34&var=L34V	deleterious(0.01)	E5KSD5_HUMAN			YES	ACADS,missense_variant,p.Leu34Val,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Leu34Val,ENST00000411593,;UNC119B,downstream_gene_variant,,ENST00000344651,NM_001080533.2;MIR4700,downstream_gene_variant,,ENST00000578311,;RP11-173P15.5,upstream_gene_variant,,ENST00000544939,;ACADS,non_coding_transcript_exon_variant,,ENST00000539690,;							MODERATE	100/1239	L34V	ACADS_HUMAN			Transcript		benign(0.157)	.	ENSP00000242592		CCDS9207.1			1	
NARF	0	LGGM	GRCh37	17	80441655	80441655	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	20	37	.	.	ENST00000309794.11:c.833T>G	p.Leu278Arg	p.L278R	ENST00000309794	NM_031968.2	278	cTg/cGg	0	1	1	UPI0000073D0C	0	getma.org/pdb.php?prot=NARF_HUMAN&from=92&to=385&var=L278R	ENST00000309794		ENSG00000141562	29916		57	3.085		HGNC	p.L233R		NARF		SNV							ENST00000577432	protein_coding	getma.org/?cm=var&var=hg19,17,80441655,T,G&fts=all		Superfamily_domains:SSF53920,Pfam_domain:PF02906,Gene3D:1hfeL01,hmmpanther:PTHR11615:SF124,hmmpanther:PTHR11615		L/R		G	medium	1031/3949		getma.org/?cm=msa&ty=f&p=NARF_HUMAN&rb=92&re=385&var=L278R	tolerated(0.06)	J3QSD9_HUMAN,J3QRB0_HUMAN,J3QL28_HUMAN,J3KS03_HUMAN,B5KGZ1_HUMAN			YES	NARF,missense_variant,p.Leu278Arg,ENST00000309794,NM_031968.2,NM_012336.3;NARF,missense_variant,p.Leu219Arg,ENST00000390006,NM_001038618.2;NARF,missense_variant,p.Leu324Arg,ENST00000457415,;NARF,missense_variant,p.Leu230Arg,ENST00000345415,NM_001083608.1;NARF,missense_variant,p.Leu150Arg,ENST00000412079,;NARF,missense_variant,p.Leu233Arg,ENST00000577432,;NARF,missense_variant,p.Leu66Arg,ENST00000584513,;NARF,downstream_gene_variant,,ENST00000577410,;NARF-IT1,downstream_gene_variant,,ENST00000584012,;NARF,downstream_gene_variant,,ENST00000581743,;NARF,splice_region_variant,,ENST00000374611,;NARF,splice_region_variant,,ENST00000582907,;NARF,3_prime_UTR_variant,,ENST00000581795,;NARF,3_prime_UTR_variant,,ENST00000581202,;NARF,non_coding_transcript_exon_variant,,ENST00000577812,;NARF,non_coding_transcript_exon_variant,,ENST00000584445,;NARF,intron_variant,,ENST00000584965,;NARF,downstream_gene_variant,,ENST00000578082,;NARF,upstream_gene_variant,,ENST00000578820,;NARF,downstream_gene_variant,,ENST00000579083,;NARF,upstream_gene_variant,,ENST00000583908,;							MODERATE	833/1371	L278R	NARF_HUMAN			Transcript		benign(0.25)	.	ENSP00000309899		CCDS32777.1			1	
CEP170	0	LGGM	GRCh37	1	243362485	243362485	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	67	43	.	.	ENST00000366542.1:c.508A>G	p.Met170Val	p.M170V	ENST00000366542	NM_014812.2	170	Atg/Gtg	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		110	-0.14		HGNC	p.M170V	rs374680151	CEP170		SNV	C:0						ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243362485,T,C&fts=all		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		M/V	C:0.0001	C	neutral	560/6828	3.19E-05	getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=91&re=290&var=M170V	tolerated(0.28)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Met170Val,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Met170Val,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Met170Val,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Met72Val,ENST00000336415,;CEP170,downstream_gene_variant,,ENST00000523424,;CEP170,downstream_gene_variant,,ENST00000522191,;							MODERATE	508/4755	M170V	CE170_HUMAN			Transcript		benign(0.001)	.	ENSP00000355500	1.66E-05	CCDS44339.1			1	
CEP350	0	LGGM	GRCh37	1	180062303	180062303	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080895	H080895N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	78	44	.	.	ENST00000367607.3:c.7063A>T	p.Asn2355Tyr	p.N2355Y	ENST00000367607	NM_014810.4	2355	Aac/Tac	0	1	1	UPI000013CFC5	0	NA	ENST00000367607		ENSG00000135837	24238		122	0.805		HGNC	p.N2355Y		CEP350		SNV							ENST00000367607	protein_coding	getma.org/?cm=var&var=hg19,1,180062303,A,T&fts=all		hmmpanther:PTHR13958		N/Y		T	low	7481/13491		getma.org/?cm=msa&ty=f&p=CE350_HUMAN&rb=2180&re=2379&var=N2355Y		Q5T2X4_HUMAN			YES	CEP350,missense_variant,p.Asn2355Tyr,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Asn530Tyr,ENST00000429851,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;							MODERATE	7063/9354	N2355Y	CE350_HUMAN			Transcript		benign(0.142)	.	ENSP00000356579		CCDS1336.1			1	
PDGFRA	0	LGGM	GRCh37	4	55151653	55151653	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	106	48	.	.	ENST00000257290.5:c.2439T>C	p.Asn813=	p.N813=	ENST00000257290	NM_006206.4	813	aaT/aaC	0	1	1	UPI0000131793	0		ENST00000257290		ENSG00000134853	8803		154			HGNC	p.N573N		PDGFRA		SNV			1				ENST00000507166	protein_coding			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		N		C		2770/6576				D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN			YES	PDGFRA,splice_region_variant,p.=,ENST00000257290,NM_006206.4;FIP1L1,splice_region_variant,p.=,ENST00000507166,;PDGFRA,downstream_gene_variant,,ENST00000509490,;PDGFRA,downstream_gene_variant,,ENST00000509092,;PDGFRA,downstream_gene_variant,,ENST00000507536,;							LOW	2439/3270		PGFRA_HUMAN			Transcript			.	ENSP00000257290		CCDS3495.1			1	
TAF1L	0	LGGM	GRCh37	9	32631995	32631995	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	40	48	.	.	ENST00000242310.4:c.3583G>C	p.Gly1195Arg	p.G1195R	ENST00000242310	NM_153809.2	1195	Ggg/Cgg	0	1	1	UPI000007408A	0	NA	ENST00000242310		ENSG00000122728	18056		88	2.915		HGNC	p.G1195R		TAF1L		SNV							ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32631995,C,G&fts=all		hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047		G/R		G	medium	3673/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1048&re=1234&var=G1195R	deleterious(0)				YES	TAF1L,missense_variant,p.Gly1195Arg,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							MODERATE	3583/5481	G1195R	TAF1L_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000418379		CCDS35003.1			1	
TTN	0	LGGM	GRCh37	2	179411957	179411965	+	inframe_deletion	In_Frame_Del	DEL	GGTTCTTCC	GGTTCTTCC	-	novel	by Submitter	H080895	H080895N.bam	GGTTCTTCC	GGTTCTTCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	157	50	.	.	ENST00000589042.1:c.94287_94295del	p.Trp31429_Pro31432delinsCys	p.W31429_P31432delinsC	ENST00000589042	NM_001267550.1	31429	tgGGAAGAACCc/tgc	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		207			HGNC	p.22489_22492del		TTN		deletion			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		WEEP/C		-		89589-89597/104301				C9JQJ2_HUMAN				TTN,inframe_deletion,p.Trp31429_Pro31432delinsCys,ENST00000589042,NM_001267550.1;TTN,inframe_deletion,p.Trp29788_Pro29791delinsCys,ENST00000591111,;TTN,inframe_deletion,p.Trp28861_Pro28864delinsCys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,inframe_deletion,p.Trp22556_Pro22559delinsCys,ENST00000342175,NM_133437.3;TTN,inframe_deletion,p.Trp22489_Pro22492delinsCys,ENST00000359218,NM_133432.3;TTN,inframe_deletion,p.Trp22364_Pro22367delinsCys,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,;							MODERATE	89364-89372/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
MYT1L	0	LGGM	GRCh37	2	1926680	1926680	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	113	57	.	.	ENST00000428368.2:c.861C>G	p.Asp287Glu	p.D287E	ENST00000428368		287	gaC/gaG	0	1		UPI0000140B19	0	NA	ENST00000399161		ENSG00000186487	7623		170	0.625		HGNC	p.D287E		MYT1L		SNV							ENST00000428368	protein_coding	getma.org/?cm=var&var=hg19,2,1926680,G,C&fts=all		hmmpanther:PTHR10816:SF11,hmmpanther:PTHR10816		D/E		C	neutral	1609/7063		getma.org/?cm=msa&ty=f&p=MYT1L_HUMAN&rb=91&re=462&var=D287E	tolerated_low_confidence(0.52)					MYT1L,missense_variant,p.Asp287Glu,ENST00000399161,NM_015025.2;MYT1L,missense_variant,p.Asp287Glu,ENST00000428368,;MYT1L,upstream_gene_variant,,ENST00000602387,;							MODERATE	861/3561	D287E	MYT1L_HUMAN			Transcript		benign(0.003)	.	ENSP00000382114					1	
TMEM67	0	LGGM	GRCh37	8	94798484	94798484	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080895	H080895N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	51	65	.	.	ENST00000453321.3:c.1322G>A	p.Arg441His	p.R441H	ENST00000453321	NM_153704.5	441	cGc/cAc	0	1	1	UPI0000D624E9	0	NA	ENST00000453321	likely_pathogenic	ENSG00000164953	28396		116	2.805		HGNC	p.R431H	rs386834183,COSM1458661,COSM1458660	TMEM67		SNV			1			1,1,1	ENST00000323130	protein_coding	getma.org/?cm=var&var=hg19,8,94798484,G,A&fts=all		Pfam_domain:PF09773,hmmpanther:PTHR21274,hmmpanther:PTHR21274:SF0		R/H		A	medium	1380/4651	1.51E-05	getma.org/?cm=msa&ty=f&p=MKS3_HUMAN&rb=163&re=995&var=R441H	deleterious(0)	E5RG10_HUMAN,C9JRQ8_HUMAN			YES	TMEM67,missense_variant,p.Arg441His,ENST00000453321,NM_153704.5;TMEM67,missense_variant,p.Arg360His,ENST00000409623,NM_001142301.1;TMEM67,missense_variant,p.Arg338His,ENST00000452276,;TMEM67,missense_variant,p.Arg49His,ENST00000520680,;TMEM67,missense_variant,p.Arg147His,ENST00000453906,;TMEM67,downstream_gene_variant,,ENST00000425545,;TMEM67,downstream_gene_variant,,ENST00000520634,;TMEM67,missense_variant,p.Arg431His,ENST00000323130,;TMEM67,non_coding_transcript_exon_variant,,ENST00000474944,;TMEM67,upstream_gene_variant,,ENST00000523230,;					0,1,1		MODERATE	1322/2988	R441H	MKS3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000389998	8.24E-06	CCDS6258.2			1	20232449
CAPN9	0	LGGM	GRCh37	1	230916428	230916428	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080895	H080895N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	72	65	.	.	ENST00000271971.2:c.1455C>A	p.Ile485=	p.I485=	ENST00000271971	NM_006615.2	485	atC/atA	0	1	1	UPI000006E882	0		ENST00000271971		ENSG00000135773	1486		137			HGNC	p.I422I		CAPN9		SNV							ENST00000366666	protein_coding			hmmpanther:PTHR10183:SF136,hmmpanther:PTHR10183,Pfam_domain:PF01067,Gene3D:2.60.120.380,SMART_domains:SM00720,Superfamily_domains:SSF49758,Prints_domain:PR00704		I		A		1568/2362							YES	CAPN9,synonymous_variant,p.=,ENST00000354537,NM_016452.1;CAPN9,synonymous_variant,p.=,ENST00000271971,NM_006615.2;CAPN9,synonymous_variant,p.=,ENST00000366666,;RP11-99J16__A.2,intron_variant,,ENST00000452640,;RP11-99J16__A.2,intron_variant,,ENST00000428480,;RP11-99J16__A.2,intron_variant,,ENST00000412344,;							LOW	1455/2073		CAN9_HUMAN			Transcript			.	ENSP00000271971		CCDS1586.1			1	
QRFPR	0	LGGM	GRCh37	4	122258004	122258004	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080895	H080895N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080895N.bam, H080895T.bam	Illumina HiSeq	161	70	.	.	ENST00000394427.2:c.519A>G	p.Ala173=	p.A173=	ENST00000394427	NM_198179.2	173	gcA/gcG	0	1	1	UPI0000047B23	0		ENST00000394427		ENSG00000186867	15565		231			HGNC	p.A173A		QRFPR		SNV							ENST00000507331	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF65,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		C		931/1708							YES	QRFPR,synonymous_variant,p.=,ENST00000394427,NM_198179.2;QRFPR,synonymous_variant,p.=,ENST00000334383,;QRFPR,synonymous_variant,p.=,ENST00000507331,;QRFPR,downstream_gene_variant,,ENST00000512235,;							LOW	519/1296		QRFPR_HUMAN			Transcript			.	ENSP00000377948		CCDS3719.1			1	
PPP1R3F	0	LGGM	GRCh37	X	49127122	49127122	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	3	2	.	.	ENST00000055335.6:c.790C>A	p.Arg264Ser	p.R264S	ENST00000055335	NM_033215.4	264	Cgc/Agc	0	1	1	UPI00001D7BA8	0	getma.org/pdb.php?prot=PPR3F_HUMAN&from=148&to=284&var=R264S	ENST00000055335		ENSG00000049769	14944		5	1.01		HGNC	p.R264S		PPP1R3F		SNV							ENST00000055335	protein_coding	getma.org/?cm=var&var=hg19,X,49127122,C,A&fts=all		Pfam_domain:PF03370,PROSITE_profiles:PS51159,hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF5		R/S		A	low	806/3421		getma.org/?cm=msa&ty=f&p=PPR3F_HUMAN&rb=148&re=284&var=R264S	deleterious(0.01)	Q0D2I0_HUMAN			YES	PPP1R3F,missense_variant,p.Arg264Ser,ENST00000055335,NM_033215.4;PPP1R3F,missense_variant,p.Arg14Ser,ENST00000471261,;PPP1R3F,5_prime_UTR_variant,,ENST00000466508,;PPP1R3F,5_prime_UTR_variant,,ENST00000438316,;PPP1R3F,intron_variant,,ENST00000495799,NM_001184745.1;LL0XNC01-7P3.1,upstream_gene_variant,,ENST00000602455,;							MODERATE	790/2400	R264S	PPR3F_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000055335		CCDS35254.1			1	
ANKUB1	0	LGGM	GRCh37	3	149485708	149485708	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	9	2	.	.	ENST00000446160.1:c.741C>A	p.Ala247=	p.A247=	ENST00000446160	NM_001144960.1	247	gcC/gcA	0	1	1	UPI0000DD7B6F	0		ENST00000446160		ENSG00000206199	29642		11			HGNC	p.A247A		ANKUB1		SNV							ENST00000383050	protein_coding			hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF111,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		A		T		1198/2471				E9PHT4_HUMAN			YES	ANKUB1,synonymous_variant,p.=,ENST00000446160,NM_001144960.1;ANKUB1,synonymous_variant,p.=,ENST00000462519,;ANKUB1,synonymous_variant,p.=,ENST00000383050,;ANKUB1,3_prime_UTR_variant,,ENST00000484019,;							LOW	741/1635					Transcript			.	ENSP00000387907					1	
DIAPH3	0	LGGM	GRCh37	13	60566714	60566714	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	2	2	.	.	ENST00000400324.4:c.1018G>T	p.Ala340Ser	p.A340S	ENST00000400324	NM_001042517.1	340	Gct/Tct	0	1	1	UPI0000DAC774	0	getma.org/pdb.php?prot=DIAP3_HUMAN&from=302&to=495&var=A340S	ENST00000400324		ENSG00000139734	15480		4	1.98		HGNC	p.A340S		DIAPH3		SNV			1				ENST00000400324	protein_coding	getma.org/?cm=var&var=hg19,13,60566714,C,A&fts=all		Pfam_domain:PF06367,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Superfamily_domains:SSF48371		A/S		A	medium	1239/4804		getma.org/?cm=msa&ty=f&p=DIAP3_HUMAN&rb=302&re=495&var=A340S	deleterious(0.05)				YES	DIAPH3,missense_variant,p.Ala340Ser,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Ala340Ser,ENST00000400330,;DIAPH3,missense_variant,p.Ala329Ser,ENST00000377908,;DIAPH3,missense_variant,p.Ala340Ser,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Ala294Ser,ENST00000400320,NM_001258367.1;DIAPH3,missense_variant,p.Ala270Ser,ENST00000400319,NM_001258368.1;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;							MODERATE	1018/3582	A340S	DIAP3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000383178		CCDS41898.1			1	
TMEM150C	0	LGGM	GRCh37	4	83423898	83423898	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	3	2	.	.	ENST00000515780.2:c.217A>G	p.Asn73Asp	p.N73D	ENST00000515780		73	Aac/Gac	0	1		UPI000020B0D7	0	NA	ENST00000449862		ENSG00000249242	37263		5	2.14		HGNC	p.N73D		TMEM150C		SNV							ENST00000508701	protein_coding	getma.org/?cm=var&var=hg19,4,83423898,T,C&fts=all		Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF7,Transmembrane_helices:TMhelix		N/D		C	medium	536/1990		getma.org/?cm=msa&ty=f&p=T150C_HUMAN&rb=8&re=218&var=N73D	deleterious(0.01)	D6RDW6_HUMAN				TMEM150C,missense_variant,p.Asn73Asp,ENST00000515780,;TMEM150C,missense_variant,p.Asn73Asp,ENST00000449862,NM_001080506.1;TMEM150C,missense_variant,p.Asn73Asp,ENST00000508701,;TMEM150C,downstream_gene_variant,,ENST00000454948,;							MODERATE	217/750	N73D	T150C_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000403438		CCDS47087.1			1	
SPPL3	0	LGGM	GRCh37	12	121205397	121205397	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	14	3	.	.	ENST00000353487.2:c.774-1G>T		p.X258_splice	ENST00000353487	NM_139015.4			0	1	1	UPI0000013590	0		ENST00000353487		ENSG00000157837	30424		17			HGNC	-		SPPL3		SNV							ENST00000353487	protein_coding							A		-/4148				F5H7J2_HUMAN,F5H6I1_HUMAN,F5H4Y6_HUMAN,F5H4L1_HUMAN,F5H2A2_HUMAN			YES	SPPL3,splice_acceptor_variant,,ENST00000353487,NM_139015.4;SPPL3,downstream_gene_variant,,ENST00000536996,;SPPL3,downstream_gene_variant,,ENST00000543608,;SPPL3,downstream_gene_variant,,ENST00000543854,;SPPL3,splice_acceptor_variant,,ENST00000392495,;SPPL3,splice_acceptor_variant,,ENST00000545209,;							HIGH	774/1155		SPPL3_HUMAN			Transcript			.	ENSP00000288680		CCDS9208.1			1	
PTPN21	0	LGGM	GRCh37	14	88967126	88967126	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	30	3	.	.	ENST00000556564.1:c.764+1G>T		p.X255_splice	ENST00000556564	NM_007039.3			0	1		UPI000013D15F	0		ENST00000328736		ENSG00000070778	9651		33			HGNC	-		PTPN21		SNV							ENST00000328736	protein_coding							A		-/6089				Q8WX29_HUMAN,G3V3S6_HUMAN				PTPN21,splice_donor_variant,,ENST00000556564,NM_007039.3;PTPN21,splice_donor_variant,,ENST00000328736,;PTPN21,downstream_gene_variant,,ENST00000555243,;RP11-507K2.2,intron_variant,,ENST00000555444,;PTPN21,splice_donor_variant,,ENST00000554628,;PTPN21,splice_donor_variant,,ENST00000554270,;PTPN21,splice_donor_variant,,ENST00000536337,;							HIGH	764/3525		PTN21_HUMAN			Transcript			.	ENSP00000330276		CCDS9884.1			1	
RBM5	0	LGGM	GRCh37	3	50151408	50151408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	35	3	.	.	ENST00000347869.3:c.1643C>A	p.Ala548Asp	p.A548D	ENST00000347869	NM_005778.3	548	gCt/gAt	0	1	1	UPI000013337C	0	NA	ENST00000347869		ENSG00000003756	9902		38	2.845		HGNC	p.A548D		RBM5		SNV							ENST00000347869	protein_coding	getma.org/?cm=var&var=hg19,3,50151408,C,A&fts=all		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21		A/D		A	medium	1818/3188		getma.org/?cm=msa&ty=f&p=RBM5_HUMAN&rb=509&re=708&var=A548D	deleterious(0)	C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN			YES	RBM5,missense_variant,p.Ala548Asp,ENST00000347869,NM_005778.3;RP11-493K19.3,downstream_gene_variant,,ENST00000437204,;RP11-493K19.3,downstream_gene_variant,,ENST00000425674,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000475128,;RBM5,non_coding_transcript_exon_variant,,ENST00000493993,;RBM5,upstream_gene_variant,,ENST00000479275,;RBM5,upstream_gene_variant,,ENST00000464988,;RBM5,downstream_gene_variant,,ENST00000474818,;RBM5,upstream_gene_variant,,ENST00000475590,;RBM5,downstream_gene_variant,,ENST00000489437,;RBM5,downstream_gene_variant,,ENST00000494360,;RBM5,upstream_gene_variant,,ENST00000492430,;RBM5,upstream_gene_variant,,ENST00000461242,;							MODERATE	1643/2448	A548D	RBM5_HUMAN			Transcript		benign(0.421)	.	ENSP00000343054		CCDS2810.1			1	
ZNF432	0	LGGM	GRCh37	19	52538679	52538679	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	24	3	.	.	ENST00000594154.1:c.253G>C	p.Asp85His	p.D85H	ENST00000594154		85	Gat/Cat	0	1		UPI0000139CDC	0	NA	ENST00000221315		ENSG00000256087	20810		27	1.1		HGNC	p.D85H		ZNF432		SNV							ENST00000594154	protein_coding	getma.org/?cm=var&var=hg19,19,52538679,C,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165		D/H		G	low	571/2577		getma.org/?cm=msa&ty=f&p=ZN432_HUMAN&rb=49&re=190&var=D85H	deleterious(0.04)	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN				ZNF432,missense_variant,p.Asp85His,ENST00000594154,;ZNF432,missense_variant,p.Asp85His,ENST00000221315,NM_014650.2;ZNF432,missense_variant,p.Asp85His,ENST00000600368,;ZNF432,missense_variant,p.Asp85His,ENST00000598745,;ZNF432,downstream_gene_variant,,ENST00000597273,;							MODERATE	253/1959	D85H	ZN432_HUMAN			Transcript		benign(0.003)	.	ENSP00000221315		CCDS12848.1			1	
DNM1L	0	LGGM	GRCh37	12	32875392	32875392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	23	3	.	.	ENST00000549701.1:c.904C>A	p.Pro302Thr	p.P302T	ENST00000549701		302	Cca/Aca	0	1	1	UPI00000721A1	0	getma.org/pdb.php?prot=DNM1L_HUMAN&from=226&to=518&var=P302T	ENST00000549701		ENSG00000087470	2973		26	3.785		HGNC	p.P302T		DNM1L		SNV			1				ENST00000549701	protein_coding	getma.org/?cm=var&var=hg19,12,32875392,C,A&fts=all		PROSITE_profiles:PS51718,hmmpanther:PTHR11566:SF39,hmmpanther:PTHR11566,Pfam_domain:PF01031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		P/T		A	high	978/2487		getma.org/?cm=msa&ty=f&p=DNM1L_HUMAN&rb=226&re=518&var=P302T	deleterious(0)	D3DUW5_HUMAN			YES	DNM1L,missense_variant,p.Pro302Thr,ENST00000452533,NM_012062.4,NM_012063.3;DNM1L,missense_variant,p.Pro315Thr,ENST00000381000,NM_001278465.1;DNM1L,missense_variant,p.Pro315Thr,ENST00000358214,;DNM1L,missense_variant,p.Pro302Thr,ENST00000266481,NM_005690.4;DNM1L,missense_variant,p.Pro315Thr,ENST00000553257,NM_001278464.1;DNM1L,missense_variant,p.Pro302Thr,ENST00000549701,;DNM1L,missense_variant,p.Pro302Thr,ENST00000547312,NM_001278463.1;DNM1L,missense_variant,p.Pro99Thr,ENST00000414834,NM_001278466.1;DNM1L,downstream_gene_variant,,ENST00000548750,;DNM1L,downstream_gene_variant,,ENST00000547932,;DNM1L,3_prime_UTR_variant,,ENST00000546757,;DNM1L,3_prime_UTR_variant,,ENST00000546649,;DNM1L,3_prime_UTR_variant,,ENST00000413295,;DNM1L,3_prime_UTR_variant,,ENST00000434676,;DNM1L,non_coding_transcript_exon_variant,,ENST00000547548,;RP11-278C7.1,downstream_gene_variant,,ENST00000550917,;							MODERATE	904/2211	P302T	DNM1L_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000450399		CCDS8729.1			1	
RGS3	0	LGGM	GRCh37	9	116260321	116260321	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	24	3	.	.	ENST00000374140.2:c.858G>T	p.Met286Ile	p.M286I	ENST00000374140	NM_144488.5	286	atG/atT	0	1		UPI00001C0F58	0	NA	ENST00000350696		ENSG00000138835	9999		27	1.39		HGNC	p.M286I		RGS3		SNV							ENST00000350696	protein_coding	getma.org/?cm=var&var=hg19,9,116260321,G,T&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF4		M/I		T	low	875/4398		getma.org/?cm=msa&ty=f&p=RGS3_HUMAN&rb=240&re=297&var=M286I	tolerated_low_confidence(0.39)	H7BXY1_HUMAN,C9J6G2_HUMAN				RGS3,missense_variant,p.Met286Ile,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,missense_variant,p.Met286Ile,ENST00000350696,;RGS3,missense_variant,p.Met174Ile,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,;							MODERATE	858/3597	M286I	RGS3_HUMAN			Transcript		benign(0)	.	ENSP00000259406		CCDS43869.1			1	
E2F7	0	LGGM	GRCh37	12	77419422	77419422	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	41	3	.	.	ENST00000322886.7:c.2481G>T	p.Val827=	p.V827=	ENST00000322886	NM_203394.2	827	gtG/gtT	0	1	1	UPI00001B64A1	0		ENST00000322886		ENSG00000165891	23820		44			HGNC	p.V827V		E2F7		SNV							ENST00000322886	protein_coding			hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25		V		A		2717/5740				F8VXV5_HUMAN,F8VSE7_HUMAN			YES	E2F7,synonymous_variant,p.=,ENST00000322886,NM_203394.2;E2F7,intron_variant,,ENST00000416496,;E2F7,downstream_gene_variant,,ENST00000550669,;							LOW	2481/2736		E2F7_HUMAN			Transcript			.	ENSP00000323246		CCDS9016.1			1	
TMCO3	0	LGGM	GRCh37	13	114175019	114175019	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	34	3	.	.	ENST00000434316.2:c.1314C>A	p.Leu438=	p.L438=	ENST00000434316	NM_017905.4	438	ctC/ctA	0	1	1	UPI000004C642	0		ENST00000434316		ENSG00000150403	20329		37			HGNC	p.L438L		TMCO3		SNV							ENST00000434316	protein_coding			Pfam_domain:PF00999,hmmpanther:PTHR16254,Transmembrane_helices:TMhelix		L		A		1673/3050							YES	TMCO3,synonymous_variant,p.=,ENST00000434316,NM_017905.4;TMCO3,intron_variant,,ENST00000375391,;TMCO3,non_coding_transcript_exon_variant,,ENST00000474393,;TMCO3,non_coding_transcript_exon_variant,,ENST00000465556,;TMCO3,downstream_gene_variant,,ENST00000462877,;							LOW	1314/2034		TMCO3_HUMAN			Transcript			.	ENSP00000389399		CCDS9537.1			1	
MATN1	0	LGGM	GRCh37	1	31189051	31189051	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	30	3	.	.	ENST00000373765.4:c.912G>T	p.Thr304=	p.T304=	ENST00000373765	NM_002379.3	304	acG/acT	0	1	1	UPI000004F1ED	0		ENST00000373765		ENSG00000162510	6907		33			HGNC	p.T304T		MATN1		SNV							ENST00000373765	protein_coding			Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF14,PROSITE_profiles:PS50234		T		A		948/3832							YES	MATN1,synonymous_variant,p.=,ENST00000373765,NM_002379.3;MATN1-AS1,upstream_gene_variant,,ENST00000414532,;MATN1-AS1,upstream_gene_variant,,ENST00000454613,;MATN1-AS1,upstream_gene_variant,,ENST00000414763,;MATN1,non_coding_transcript_exon_variant,,ENST00000477320,;MATN1,upstream_gene_variant,,ENST00000494561,;							LOW	912/1491		MATN1_HUMAN			Transcript			.	ENSP00000362870		CCDS336.1			1	
OCA2	0	LGGM	GRCh37	15	28234779	28234779	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	13	3	.	.	ENST00000354638.3:c.1150G>T	p.Asp384Tyr	p.D384Y	ENST00000354638	NM_000275.2	384	Gat/Tat	0	1	1	UPI000013D158	0	NA	ENST00000354638		ENSG00000104044	8101		16	3.345		HGNC	p.D384Y		OCA2		SNV			1				ENST00000382996	protein_coding	getma.org/?cm=var&var=hg19,15,28234779,C,A&fts=all		hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF67,Pfam_domain:PF03600		D/Y		A	medium	1306/3186		getma.org/?cm=msa&ty=f&p=P_HUMAN&rb=338&re=757&var=D384Y	deleterious(0)	C9JDV3_HUMAN			YES	OCA2,missense_variant,p.Asp384Tyr,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Asp360Tyr,ENST00000353809,;OCA2,missense_variant,p.Asp384Tyr,ENST00000382996,;							MODERATE	1150/2517	D384Y	P_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000346659		CCDS10020.1			1	
HIF3A	0	LGGM	GRCh37	19	46842812	46842812	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	42	3	.	.	ENST00000377670.4:c.1943C>A	p.Ser648Ter	p.S648*	ENST00000377670	NM_152795.3	648	tCa/tAa	0	1	1	UPI00002026E2	0	NA	ENST00000377670		ENSG00000124440	15825		45	0		HGNC	p.S648X		HIF3A		SNV							ENST00000377670	protein_coding	getma.org/?cm=var&var=hg19,19,46842812,C,A&fts=all				S/*		A	NA	1974/5852		NA		Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN			YES	HIF3A,stop_gained,p.Ser592Ter,ENST00000339613,;HIF3A,stop_gained,p.Ser648Ter,ENST00000377670,NM_152795.3;HIF3A,stop_gained,p.Ser646Ter,ENST00000300862,NM_152794.3;HIF3A,stop_gained,p.Ser579Ter,ENST00000244303,NM_022462.4;HIF3A,downstream_gene_variant,,ENST00000600383,;HIF3A,downstream_gene_variant,,ENST00000420102,;HIF3A,downstream_gene_variant,,ENST00000472815,NM_152796.2;AC007193.10,intron_variant,,ENST00000596807,;							HIGH	1943/2010	S648*	HIF3A_HUMAN			Transcript			.	ENSP00000366898		CCDS12681.2			1	
ELMOD2	0	LGGM	GRCh37	4	141446603	141446603	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	43	3	.	.	ENST00000323570.3:c.21G>T	p.Glu7Asp	p.E7D	ENST00000323570	NM_153702.3	7	gaG/gaT	0	1	1	UPI0000074163	0	NA	ENST00000323570		ENSG00000179387	28111		46	0		HGNC	p.E7D		ELMOD2		SNV							ENST00000502397	protein_coding	getma.org/?cm=var&var=hg19,4,141446603,G,T&fts=all		hmmpanther:PTHR12771:SF21,hmmpanther:PTHR12771		E/D		T	neutral	153/4409		getma.org/?cm=msa&ty=f&p=ELMD2_HUMAN&rb=1&re=55&var=E7D	tolerated(0.62)	D6RJB5_HUMAN,D6RHX2_HUMAN,D6RBS5_HUMAN			YES	ELMOD2,missense_variant,p.Glu7Asp,ENST00000323570,NM_153702.3;ELMOD2,missense_variant,p.Glu7Asp,ENST00000511887,;ELMOD2,missense_variant,p.Glu7Asp,ENST00000502397,;ELMOD2,missense_variant,p.Glu7Asp,ENST00000507667,;ELMOD2,upstream_gene_variant,,ENST00000513606,;ELMOD2,non_coding_transcript_exon_variant,,ENST00000503541,;							MODERATE	21/882	E7D	ELMD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000326342		CCDS3752.1			1	
ZNF559-ZNF177	0	LGGM	GRCh37	19	9489638	9489638	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080931	H080931N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	38	3	.	.	ENST00000434737.2:c.34A>C	p.Asn12His	p.N12H	ENST00000434737		12	Aac/Cac	0	1	1	UPI000013C64B	0	getma.org/pdb.php?prot=ZN177_HUMAN&from=1&to=13&var=N12H	ENST00000541595		ENSG00000270011	42964		41	0.345		HGNC	p.N12H		ZNF559-ZNF177		SNV							ENST00000541595	protein_coding	getma.org/?cm=var&var=hg19,19,9489638,A,C&fts=all		Superfamily_domains:0044637,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF126		N/H		C	neutral	663/2435		getma.org/?cm=msa&ty=f&p=ZN177_HUMAN&rb=1&re=43&var=N12H	tolerated(0.17)	S4R3Q2_HUMAN			YES	ZNF559-ZNF177,missense_variant,p.Asn12His,ENST00000446085,;ZNF559-ZNF177,missense_variant,p.Asn12His,ENST00000541595,NM_001172650.2;ZNF177,missense_variant,p.Asn12His,ENST00000602738,;ZNF177,missense_variant,p.Asn12His,ENST00000602856,NM_001202425.1;ZNF177,missense_variant,p.Asn12His,ENST00000434737,;ZNF177,missense_variant,p.Asn12His,ENST00000589262,NM_001172651.1;ZNF177,missense_variant,p.Asn12His,ENST00000343499,NM_003451.2;ZNF559-ZNF177,missense_variant,p.Asn12His,ENST00000603656,;ZNF177,missense_variant,p.Asn12His,ENST00000590616,;ZNF177,missense_variant,p.Asn12His,ENST00000592912,;ZNF559-ZNF177,splice_region_variant,,ENST00000605471,;ZNF559-ZNF177,splice_region_variant,,ENST00000603974,;ZNF559-ZNF177,splice_region_variant,,ENST00000605006,;ZNF559-ZNF177,splice_region_variant,,ENST00000605093,;ZNF559-ZNF177,splice_region_variant,,ENST00000604886,;ZNF559-ZNF177,splice_region_variant,,ENST00000593242,;ZNF559-ZNF177,splice_region_variant,,ENST00000604543,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603024,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605775,;							MODERATE	34/966	N12H				Transcript		benign(0.259)	.	ENSP00000445323		CCDS12212.1			1	
ATP6AP1L	0	LGGM	GRCh37	5	81613823	81613823	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	31	3	.	.	ENST00000380167.4:c.379G>T	p.Gly127Cys	p.G127C	ENST00000380167		127	Ggt/Tgt	0	1	1	UPI000015F4B3	0	NA	ENST00000380167		ENSG00000205464	28091		34	2.545		HGNC	p.G127C		ATP6AP1L		SNV							ENST00000380167	protein_coding	getma.org/?cm=var&var=hg19,5,81613823,G,T&fts=all		hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF3		G/C		T	medium	1704/2503		getma.org/?cm=msa&ty=f&p=VAS1L_HUMAN&rb=28&re=221&var=G127C	deleterious(0)				YES	ATP6AP1L,missense_variant,p.Gly127Cys,ENST00000380167,;ATP6AP1L,missense_variant,p.Gly127Cys,ENST00000439350,NM_001017971.1;ATP6AP1L,intron_variant,,ENST00000508366,;ATP6AP1L,non_coding_transcript_exon_variant,,ENST00000514672,;							MODERATE	379/675	G127C	VAS1L_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000369513		CCDS34196.1			1	
NLRX1	0	LGGM	GRCh37	11	119044705	119044705	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	12	3	.	.	ENST00000409109.1:c.747C>T	p.Leu249=	p.L249=	ENST00000409109	NM_001282144.1	249	ctC/ctT	0	1		UPI0000161217	0		ENST00000292199		ENSG00000160703	29890	8.64E-05	15			HGNC	p.L249L	rs560979600,COSM3808549,COSM3808550	NLRX1	0.00115	SNV						0,1,1	ENST00000409991	protein_coding		T:0	Pfam_domain:PF05729,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF17		L		T		988/3744	1.50E-05			C9JQE9_HUMAN,C9JLK8_HUMAN,C9J0R6_HUMAN,B7Z889_HUMAN	T:0	T:0		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,;NLRX1,downstream_gene_variant,,ENST00000454811,;NLRX1,downstream_gene_variant,,ENST00000449394,;NLRX1,downstream_gene_variant,,ENST00000422249,;NLRX1,downstream_gene_variant,,ENST00000474751,;NLRX1,upstream_gene_variant,,ENST00000469103,;NLRX1,downstream_gene_variant,,ENST00000468765,;NLRX1,downstream_gene_variant,,ENST00000482180,;NLRX1,non_coding_transcript_exon_variant,,ENST00000481860,;NLRX1,non_coding_transcript_exon_variant,,ENST00000524562,;		T:0.0002			0,1,1		LOW	747/2928		NLRX1_HUMAN		T:0	Transcript			common_variant	ENSP00000292199	0.000173	CCDS8416.1		T:0.001	1	
GRM3	0	LGGM	GRCh37	7	86394872	86394872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	40	3	.	.	ENST00000361669.2:c.411C>A	p.Asn137Lys	p.N137K	ENST00000361669	NM_000840.2	137	aaC/aaA	0	1	1	UPI0000153EFC	0	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=N137K	ENST00000361669		ENSG00000198822	4595		43	-0.485		HGNC	p.N135K		GRM3		SNV							ENST00000394720	protein_coding	getma.org/?cm=var&var=hg19,7,86394872,C,A&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR01053,hmmpanther:PTHR24060,Superfamily_domains:SSF53822		N/K		A	neutral	1510/4268		getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=N137K	tolerated(1)	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN			YES	GRM3,missense_variant,p.Asn137Lys,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Asn135Lys,ENST00000394720,;GRM3,missense_variant,p.Asn137Lys,ENST00000439827,;GRM3,intron_variant,,ENST00000536043,;GRM3,intron_variant,,ENST00000546348,;GRM3,intron_variant,,ENST00000454217,;GRM3,downstream_gene_variant,,ENST00000421579,;GRM3,downstream_gene_variant,,ENST00000441140,;							MODERATE	411/2640	N137K	GRM3_HUMAN			Transcript		benign(0.309)	.	ENSP00000355316		CCDS5600.1			1	
RAD51C	0	LGGM	GRCh37	17	56811572	56811572	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	41	3	.	.	ENST00000337432.4:c.1120G>A	p.Glu374Lys	p.E374K	ENST00000337432	NM_058216.2	374	Gaa/Aaa	0	1	1	UPI0000133007	0	NA	ENST00000337432		ENSG00000108384	9820		44	1.845		HGNC	p.E374K		RAD51C		SNV			1				ENST00000337432	protein_coding	getma.org/?cm=var&var=hg19,17,56811572,G,A&fts=all				E/K		A	low	1191/1322		getma.org/?cm=msa&ty=f&p=RA51C_HUMAN&rb=321&re=376&var=E374K	tolerated_low_confidence(0.08)	Q7KZJ0_HUMAN,J3QR58_HUMAN			YES	RAD51C,missense_variant,p.Glu374Lys,ENST00000337432,NM_058216.2;RAD51C,missense_variant,p.Glu255Lys,ENST00000413590,;RAD51C,3_prime_UTR_variant,,ENST00000584804,;RAD51C,downstream_gene_variant,,ENST00000583539,;RAD51C,3_prime_UTR_variant,,ENST00000475762,;RAD51C,3_prime_UTR_variant,,ENST00000487525,;RAD51C,3_prime_UTR_variant,,ENST00000482007,;RAD51C,non_coding_transcript_exon_variant,,ENST00000581221,;RAD51C,non_coding_transcript_exon_variant,,ENST00000578151,;RAD51C,non_coding_transcript_exon_variant,,ENST00000461706,;RAD51C,downstream_gene_variant,,ENST00000584617,;							MODERATE	1120/1131	E374K	RA51C_HUMAN			Transcript		benign(0.003)	.	ENSP00000336701		CCDS11611.1			1	
LRRC8D	0	LGGM	GRCh37	1	90400627	90400627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	23	3	.	.	ENST00000337338.5:c.2000C>A	p.Ser667Tyr	p.S667Y	ENST00000337338	NM_001134479.1	667	tCc/tAc	0	1	1	UPI00001BBFBA	0	getma.org/pdb.php?prot=LRC8D_HUMAN&from=635&to=695&var=S667Y	ENST00000337338		ENSG00000171492	16992		26	1.14		HGNC	p.S667Y		LRRC8D		SNV							ENST00000394593	protein_coding	getma.org/?cm=var&var=hg19,1,90400627,C,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52058		S/Y		A	low	2407/3950		getma.org/?cm=msa&ty=f&p=LRC8D_HUMAN&rb=635&re=695&var=S667Y	tolerated(0.08)	Q659A9_HUMAN,Q658W7_HUMAN,Q5VWA0_HUMAN,E9PMF9_HUMAN,E9PL08_HUMAN,E9PJS7_HUMAN,E9PJ89_HUMAN			YES	LRRC8D,missense_variant,p.Ser667Tyr,ENST00000337338,NM_001134479.1;LRRC8D,missense_variant,p.Ser667Tyr,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,;							MODERATE	2000/2577	S667Y	LRC8D_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000338887		CCDS726.1			1	
ANKRD36	0	LGGM	GRCh37	2	97881226	97881226	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	37	3	.	.	ENST00000420699.2:c.3665G>T	p.Arg1222Leu	p.R1222L	ENST00000420699	NM_001164315.1	1222	cGt/cTt	0	1	1	UPI0001B23BB4	0	NA	ENST00000420699		ENSG00000135976	24079		40	0.345		HGNC	p.R1222L		ANKRD36		SNV							ENST00000420699	protein_coding	getma.org/?cm=var&var=hg19,2,97881226,G,T&fts=all		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1		R/L		T	neutral	3909/6269		getma.org/?cm=msa&ty=f&p=AN36A_HUMAN&rb=267&re=1470&var=R1222L	tolerated(0.05)				YES	ANKRD36,missense_variant,p.Arg1222Leu,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Arg1222Leu,ENST00000461153,;ANKRD36,non_coding_transcript_exon_variant,,ENST00000421946,;							MODERATE	3665/5826	R1222L	AN36A_HUMAN			Transcript		benign(0.109)	.	ENSP00000391950		CCDS54379.1			1	
CCDC141	0	LGGM	GRCh37	2	179736905	179736905	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	38	3	.	.	ENST00000420890.2:c.2034G>T	p.Lys678Asn	p.K678N	ENST00000420890	NM_173648.3	678	aaG/aaT	0	1	1	UPI0000EE2F1C	0	NA	ENST00000420890		ENSG00000163492	26821		41	1.04		HGNC	p.K122N		CCDC141		SNV							ENST00000343876	protein_coding	getma.org/?cm=var&var=hg19,2,179736905,C,A&fts=all		hmmpanther:PTHR19897		K/N		A	low	2152/9127		getma.org/?cm=msa&ty=f&p=CC141_HUMAN&rb=2&re=615&var=K103N	tolerated(0.05)	H7C0P1_HUMAN,E7ERF0_HUMAN			YES	CCDC141,missense_variant,p.Lys678Asn,ENST00000420890,NM_173648.3;CCDC141,missense_variant,p.Lys122Asn,ENST00000343876,;CCDC141,missense_variant,p.Lys103Asn,ENST00000295723,;CCDC141,missense_variant,p.Lys678Asn,ENST00000443758,;CCDC141,missense_variant,p.Lys613Asn,ENST00000446116,;CCDC141,downstream_gene_variant,,ENST00000409284,;							MODERATE	2034/4593	K103N				Transcript		benign(0.251)	.	ENSP00000395995					1	
DHX9	0	LGGM	GRCh37	1	182821411	182821411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	35	3	.	.	ENST00000367549.3:c.296C>A	p.Ala99Glu	p.A99E	ENST00000367549	NM_001357.4	99	gCa/gAa	0	1	1	UPI00001AEF15	0	NA	ENST00000367549		ENSG00000135829	2750		38	1.39		HGNC	p.A99E		DHX9		SNV							ENST00000367549	protein_coding	getma.org/?cm=var&var=hg19,1,182821411,C,A&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF84		A/E		A	low	406/4240		getma.org/?cm=msa&ty=f&p=DHX9_HUMAN&rb=70&re=180&var=A99E	tolerated(0.79)				YES	DHX9,missense_variant,p.Ala99Glu,ENST00000367549,NM_001357.4;DHX9,non_coding_transcript_exon_variant,,ENST00000483416,;DHX9,upstream_gene_variant,,ENST00000479271,;							MODERATE	296/3813	A99E	DHX9_HUMAN			Transcript		benign(0.003)	.	ENSP00000356520		CCDS41444.1			1	
WWC1	0	LGGM	GRCh37	5	167894859	167894859	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	25	3	.	.	ENST00000521089.1:c.3183G>T	p.Ala1061=	p.A1061=	ENST00000521089		1061	gcG/gcT	0	1		UPI000007443D	0		ENST00000265293		ENSG00000113645	29435		28			HGNC	p.A1061A		WWC1		SNV							ENST00000521089	protein_coding			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22		A		T		3667/7130								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,,ENST00000521391,;WWC1,non_coding_transcript_exon_variant,,ENST00000518204,;							LOW	3165/3342		KIBRA_HUMAN			Transcript			.	ENSP00000265293		CCDS4366.1			1	
SEC63	0	LGGM	GRCh37	6	108243056	108243056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	42	3	.	.	ENST00000369002.4:c.397C>A	p.Pro133Thr	p.P133T	ENST00000369002	NM_007214.4	133	Cca/Aca	0	1	1	UPI000000DBBB	0	getma.org/pdb.php?prot=SEC63_HUMAN&from=104&to=162&var=P133T	ENST00000369002		ENSG00000025796	21082		45	4.065		HGNC	p.P133T		SEC63		SNV			1				ENST00000369002	protein_coding	getma.org/?cm=var&var=hg19,6,108243056,G,T&fts=all		PROSITE_profiles:PS50076,hmmpanther:PTHR24075,Gene3D:1.10.287.110,Pfam_domain:PF00226,SMART_domains:SM00271,Superfamily_domains:SSF46565,Prints_domain:PR00625		P/T		T	high	577/6411		getma.org/?cm=msa&ty=f&p=SEC63_HUMAN&rb=104&re=162&var=P133T	deleterious(0)	A6PVC9_HUMAN			YES	SEC63,missense_variant,p.Pro133Thr,ENST00000369002,NM_007214.4;SEC63,missense_variant,p.Pro77Thr,ENST00000429168,;SEC63,non_coding_transcript_exon_variant,,ENST00000484803,;SEC63,downstream_gene_variant,,ENST00000446496,;							MODERATE	397/2283	P133T	SEC63_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000357998		CCDS5061.1			1	
ZBTB7C	0	LGGM	GRCh37	18	45566935	45566935	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	30	3	.	.	ENST00000588982.1:c.544G>T	p.Asp182Tyr	p.D182Y	ENST00000588982		182	Gac/Tac	0	1		UPI0000073FE3	0	NA	ENST00000535628		ENSG00000184828	31700		33	0.345		HGNC	p.D182Y		ZBTB7C		SNV							ENST00000332053	protein_coding	getma.org/?cm=var&var=hg19,18,45566935,C,A&fts=all		hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389		D/Y		A	neutral	915/4818		getma.org/?cm=msa&ty=f&p=ZBT7C_HUMAN&rb=131&re=330&var=D182Y	deleterious(0.01)	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN				ZBTB7C,missense_variant,p.Asp182Tyr,ENST00000588982,;ZBTB7C,missense_variant,p.Asp182Tyr,ENST00000590800,;ZBTB7C,missense_variant,p.Asp182Tyr,ENST00000586438,;ZBTB7C,missense_variant,p.Asp182Tyr,ENST00000535628,NM_001039360.2;ZBTB7C,missense_variant,p.Asp182Tyr,ENST00000332053,;ZBTB7C,downstream_gene_variant,,ENST00000589170,;ZBTB7C,downstream_gene_variant,,ENST00000589194,;ZBTB7C,downstream_gene_variant,,ENST00000587107,;ZBTB7C,downstream_gene_variant,,ENST00000592656,;ZBTB7C,downstream_gene_variant,,ENST00000590374,;ZBTB7C,downstream_gene_variant,,ENST00000585404,;ZBTB7C,downstream_gene_variant,,ENST00000588970,;ZBTB7C,downstream_gene_variant,,ENST00000588053,;ZBTB7C,downstream_gene_variant,,ENST00000590178,;ZBTB7C,downstream_gene_variant,,ENST00000590855,;ZBTB7C,downstream_gene_variant,,ENST00000589619,;ZBTB7C,downstream_gene_variant,,ENST00000586743,;ZBTB7C,downstream_gene_variant,,ENST00000593159,;ZBTB7C,downstream_gene_variant,,ENST00000588028,;ZBTB7C,downstream_gene_variant,,ENST00000588149,;ZBTB7C,downstream_gene_variant,,ENST00000591526,;ZBTB7C,downstream_gene_variant,,ENST00000590437,;ZBTB7C,downstream_gene_variant,,ENST00000591279,;ZBTB7C,downstream_gene_variant,,ENST00000588566,;ZBTB7C,downstream_gene_variant,,ENST00000589077,;ZBTB7C,downstream_gene_variant,,ENST00000591405,;ZBTB7C,downstream_gene_variant,,ENST00000592387,;ZBTB7C,downstream_gene_variant,,ENST00000586525,;ZBTB7C,downstream_gene_variant,,ENST00000586047,;							MODERATE	544/1860	D182Y	ZBT7C_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000439781		CCDS32830.1			1	
TNKS1BP1	0	LGGM	GRCh37	11	57085336	57085336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	6	3	.	.	ENST00000532437.1:c.754A>G	p.Asn252Asp	p.N252D	ENST00000532437		252	Aac/Gac	0	1		UPI000013DB72	0	NA	ENST00000358252		ENSG00000149115	19081		9	0.975		HGNC	p.N252D		TNKS1BP1		SNV							ENST00000532437	protein_coding	getma.org/?cm=var&var=hg19,11,57085336,T,C&fts=all		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2		N/D		C	low	907/5795		getma.org/?cm=msa&ty=f&p=TB182_HUMAN&rb=201&re=400&var=N252D	deleterious(0.01)	E9PKK0_HUMAN,E9PKE7_HUMAN				TNKS1BP1,missense_variant,p.Asn252Asp,ENST00000532437,;TNKS1BP1,missense_variant,p.Asn252Asp,ENST00000358252,NM_033396.2;TNKS1BP1,downstream_gene_variant,,ENST00000527207,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;							MODERATE	754/5190	N252D	TB182_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000350990		CCDS7951.1			1	
SCUBE1	0	LGGM	GRCh37	22	43606182	43606182	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	7	3	.	.	ENST00000360835.4:c.2448C>T	p.Gly816=	p.G816=	ENST00000360835	NM_173050.3	816	ggC/ggT	0	1	1	UPI000020790F	0		ENST00000360835		ENSG00000159307	13441	8.73E-05	10			HGNC	p.G816G	rs375495822	SCUBE1		SNV	A:0			0.000198			ENST00000360835	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4,SMART_domains:SM00042,Superfamily_domains:SSF49854		G	A:0.0001	A		2575/9808	3.12E-05						YES	SCUBE1,synonymous_variant,p.=,ENST00000360835,NM_173050.3;Z82214.3,upstream_gene_variant,,ENST00000420269,;							LOW	2448/2967		SCUB1_HUMAN			Transcript			.	ENSP00000354080	4.12E-05	CCDS14048.1			1	
METTL25	0	LGGM	GRCh37	12	82792730	82792730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	34	3	.	.	ENST00000248306.3:c.688C>A	p.Gln230Lys	p.Q230K	ENST00000248306	NM_032230.2	230	Cag/Aag	0	1	1	UPI000013CC3E	0	NA	ENST00000248306		ENSG00000127720	26228		37	-0.35		HGNC	p.Q230K		METTL25		SNV							ENST00000548200	protein_coding	getma.org/?cm=var&var=hg19,12,82792730,C,A&fts=all		Pfam_domain:PF13679,hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF0,Superfamily_domains:SSF53335		Q/K		A	neutral	757/2093		getma.org/?cm=msa&ty=f&p=CL026_HUMAN&rb=154&re=420&var=Q230K	tolerated(0.2)	F8VZA8_HUMAN			YES	METTL25,missense_variant,p.Gln230Lys,ENST00000248306,NM_032230.2;METTL25,missense_variant,p.Gln230Lys,ENST00000548200,;METTL25,missense_variant,p.Gln189Lys,ENST00000550058,;METTL25,upstream_gene_variant,,ENST00000550298,;METTL25,non_coding_transcript_exon_variant,,ENST00000547357,;METTL25,non_coding_transcript_exon_variant,,ENST00000551722,;							MODERATE	688/1812	Q230K	MET25_HUMAN			Transcript		benign(0.11)	.	ENSP00000248306		CCDS9024.1			1	
PPP1R8	0	LGGM	GRCh37	1	28167607	28167607	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	39	3	.	.	ENST00000311772.5:c.354C>T	p.Gly118=	p.G118=	ENST00000311772	NM_014110.4	118	ggC/ggT	0	1	1	UPI00001320FD	0		ENST00000311772		ENSG00000117751	9296		42			HGNC	p.G118G	rs367952988	PPP1R8		SNV	T:0						ENST00000311772	protein_coding			hmmpanther:PTHR23308,Pfam_domain:PF00498,Gene3D:2.60.200.20,Superfamily_domains:SSF49879		G	T:0.0001	T		412/2344	3.00E-05			Q6ICT4_HUMAN			YES	PPP1R8,synonymous_variant,p.=,ENST00000311772,NM_014110.4;PPP1R8,5_prime_UTR_variant,,ENST00000373931,NM_138558.2;PPP1R8,5_prime_UTR_variant,,ENST00000431586,;PPP1R8,intron_variant,,ENST00000236412,NM_002713.3;							LOW	354/1056		PP1R8_HUMAN			Transcript			.	ENSP00000311677	1.65E-05	CCDS311.1			1	
IL1RAPL1	0	LGGM	GRCh37	X	28807498	28807498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	44	3	.	.	ENST00000378993.1:c.38C>A	p.Ala13Asp	p.A13D	ENST00000378993	NM_014271.3	13	gCt/gAt	0	1	1	UPI000006D1BF	0	NA	ENST00000378993		ENSG00000169306	5996		47	0.69		HGNC	p.A13D		IL1RAPL1		SNV			1				ENST00000302196	protein_coding	getma.org/?cm=var&var=hg19,X,28807498,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF20,PROSITE_profiles:PS50835		A/D		A	neutral	711/3667		getma.org/?cm=msa&ty=f&p=IRPL1_HUMAN&rb=1&re=149&var=A13D	tolerated(0.21)	Q7Z2H0_HUMAN			YES	IL1RAPL1,missense_variant,p.Ala13Asp,ENST00000378993,NM_014271.3;IL1RAPL1,missense_variant,p.Ala13Asp,ENST00000302196,;							MODERATE	38/2091	A13D	IRPL1_HUMAN			Transcript		benign(0.007)	.	ENSP00000368278		CCDS14218.1			1	
ALOXE3	0	LGGM	GRCh37	17	8021180	8021180	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	1	3	.	.	ENST00000318227.3:c.525G>A	p.Arg175=	p.R175=	ENST00000318227	NM_001165960.1	175	agG/agA	0	1		UPI00000477E4	0		ENST00000448843		ENSG00000179148	13743		4			HGNC	p.R175R	rs758379497	ALOXE3		SNV			1				ENST00000318227	protein_coding			PROSITE_profiles:PS50095,hmmpanther:PTHR11771:SF40,hmmpanther:PTHR11771,Pfam_domain:PF01477,Gene3D:2.60.60.20,SMART_domains:SM00308,Superfamily_domains:SSF49723		R		T		470/3203								ALOXE3,synonymous_variant,p.=,ENST00000380149,;ALOXE3,synonymous_variant,p.=,ENST00000448843,NM_021628.2;ALOXE3,synonymous_variant,p.=,ENST00000318227,NM_001165960.1;HES7,downstream_gene_variant,,ENST00000541682,NM_032580.3,NM_001165967.1;HES7,downstream_gene_variant,,ENST00000317814,;HES7,downstream_gene_variant,,ENST00000577735,;	0.000259						LOW	129/2136		LOXE3_HUMAN			Transcript			.	ENSP00000400581	1.65E-05	CCDS11130.1			1	
C4orf27	0	LGGM	GRCh37	4	170650737	170650737	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	47	3	.	.	ENST00000393381.2:c.1033G>T	p.Ala345Ser	p.A345S	ENST00000393381	NM_017867.2	345	Gct/Tct	0	1	1	UPI000013D19D	0	NA	ENST00000393381		ENSG00000056050	26051		50	1.405		HGNC	p.A345S		C4orf27		SNV							ENST00000393381	protein_coding	getma.org/?cm=var&var=hg19,4,170650737,C,A&fts=all		hmmpanther:PTHR13386,hmmpanther:PTHR13386:SF1		A/S		A	low	1109/1230		getma.org/?cm=msa&ty=f&p=CD027_HUMAN&rb=299&re=346&var=A345S	tolerated(0.44)				YES	C4orf27,missense_variant,p.Ala345Ser,ENST00000393381,NM_017867.2;C4orf27,non_coding_transcript_exon_variant,,ENST00000515204,;							MODERATE	1033/1041	A345S	CD027_HUMAN			Transcript		benign(0.006)	.	ENSP00000406598		CCDS3813.1			1	
TEX15	0	LGGM	GRCh37	8	30700261	30700261	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	44	3	.	.	ENST00000256246.2:c.6273G>T	p.Met2091Ile	p.M2091I	ENST00000256246	NM_031271.3	2091	atG/atT	0	1	1	UPI000013CEF9	0	NA	ENST00000256246		ENSG00000133863	11738		47	1.67		HGNC	p.M2091I		TEX15		SNV							ENST00000256246	protein_coding	getma.org/?cm=var&var=hg19,8,30700261,C,A&fts=all		Pfam_domain:PF15326,hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1		M/I		A	low	6348/10187		getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=M2091I	deleterious(0.01)	D3DSV6_HUMAN			YES	TEX15,missense_variant,p.Met2091Ile,ENST00000256246,NM_031271.3;							MODERATE	6273/8370	M2091I	TEX15_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000256246		CCDS6080.1			1	
FAM120B	0	LGGM	GRCh37	6	170639623	170639623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	17	3	.	.	ENST00000476287.1:c.2002C>A	p.Gln668Lys	p.Q668K	ENST00000476287	NM_032448.1	668	Cag/Aag	0	1	1	UPI000006DC13	0	NA	ENST00000476287		ENSG00000112584	21109		20	1.995		HGNC	p.Q680K		FAM120B		SNV							ENST00000540480	protein_coding	getma.org/?cm=var&var=hg19,6,170639623,C,A&fts=all		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7		Q/K		A	medium	2110/5155		getma.org/?cm=msa&ty=f&p=F120B_HUMAN&rb=601&re=800&var=Q668K	tolerated(0.25)	B4DL34_HUMAN			YES	FAM120B,missense_variant,p.Gln668Lys,ENST00000476287,NM_032448.1,NM_001286380.1,NM_001286379.1;FAM120B,missense_variant,p.Gln680Lys,ENST00000540480,;FAM120B,missense_variant,p.Gln691Lys,ENST00000537664,;FAM120B,5_prime_UTR_variant,,ENST00000252510,NM_001286381.1;MIR4644,upstream_gene_variant,,ENST00000579929,;							MODERATE	2002/2733	Q668K	F120B_HUMAN			Transcript		benign(0.037)	.	ENSP00000417970		CCDS5314.1			1	
NCOA3	0	LGGM	GRCh37	20	46281248	46281248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	47	3	.	.	ENST00000371998.3:c.4045C>A	p.Gln1349Lys	p.Q1349K	ENST00000371998		1349	Caa/Aaa	0	1	1	UPI000012FE45	0	NA	ENST00000371998		ENSG00000124151	7670		50	2.365		HGNC	p.Q1340K		NCOA3		SNV							ENST00000371997	protein_coding	getma.org/?cm=var&var=hg19,20,46281248,C,A&fts=all		PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF3		Q/K		A	medium	4236/4668		getma.org/?cm=msa&ty=f&p=NCOA3_HUMAN&rb=1349&re=1424&var=Q1349K	deleterious(0.01)	Q569F6_HUMAN,B4DYT5_HUMAN			YES	NCOA3,missense_variant,p.Gln1345Lys,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,missense_variant,p.Gln1275Lys,ENST00000341724,;NCOA3,missense_variant,p.Gln1340Lys,ENST00000371997,;NCOA3,missense_variant,p.Gln1349Lys,ENST00000371998,;SULF2,downstream_gene_variant,,ENST00000359930,NM_018837.3;SULF2,downstream_gene_variant,,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,downstream_gene_variant,,ENST00000361612,;SULF2,downstream_gene_variant,,ENST00000495544,;SULF2,downstream_gene_variant,,ENST00000479472,;SULF2,downstream_gene_variant,,ENST00000479970,;							MODERATE	4045/4275	Q1349K	NCOA3_HUMAN			Transcript		benign(0.09)	.	ENSP00000361066		CCDS13407.1			1	
CCL4L1	0	LGGM	GRCh37	17	34539957	34539957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	46	4	.	.	ENST00000444414.1:c.265C>A	p.Leu89Met	p.L89M	ENST00000444414		89	Ctg/Atg	0	1	1	UPI0000049CC2	0		ENST00000444414		ENSG00000205020	10631		50			HGNC	p.L89M		CCL4L1		SNV							ENST00000444414	protein_coding			hmmpanther:PTHR12015:SF80,hmmpanther:PTHR12015,Gene3D:2.40.50.40,SMART_domains:SM00199		L/M		A		499/590			deleterious(0.01)				YES	CCL4L1,missense_variant,p.Leu84Met,ENST00000588929,NM_001001435.2;CCL4L1,missense_variant,p.Leu89Met,ENST00000444414,;CCL4L1,missense_variant,p.Leu89Met,ENST00000378352,;CCL4L1,synonymous_variant,p.=,ENST00000389068,;CCL4L1,synonymous_variant,p.=,ENST00000358756,;CCL4L1,3_prime_UTR_variant,,ENST00000586598,;CCL4L1,3_prime_UTR_variant,,ENST00000378350,;CCL4L1,3_prime_UTR_variant,,ENST00000589336,;CCL4L1,3_prime_UTR_variant,,ENST00000591637,;CCL4L1,3_prime_UTR_variant,,ENST00000589079,;CCL4L1,3_prime_UTR_variant,,ENST00000591167,;CCL4L1,3_prime_UTR_variant,,ENST00000400702,;							MODERATE	265/279		CC4L_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000405533		CCDS32627.1			1	
PDGFRB	0	LGGM	GRCh37	5	149515292	149515292	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	9	4	.	.	ENST00000261799.4:c.190C>A	p.Arg64=	p.R64=	ENST00000261799	NM_002609.3	64	Cgg/Agg	0	1	1	UPI0000131791	0		ENST00000261799		ENSG00000113721	8804		13			HGNC	p.R64R		PDGFRB		SNV			1				ENST00000261799	protein_coding			PROSITE_profiles:PS50835,Pfam_domain:PF00047,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500948,Superfamily_domains:SSF48726		R		T		660/5717				E5RJ14_HUMAN,E5RII0_HUMAN			YES	PDGFRB,synonymous_variant,p.=,ENST00000261799,NM_002609.3;PDGFRB,synonymous_variant,p.=,ENST00000517957,;PDGFRB,5_prime_UTR_variant,,ENST00000517488,;PDGFRB,downstream_gene_variant,,ENST00000517660,;PDGFRB,synonymous_variant,p.=,ENST00000520579,;PDGFRB,upstream_gene_variant,,ENST00000522466,;							LOW	190/3321		PGFRB_HUMAN			Transcript			.	ENSP00000261799		CCDS4303.1			1	
SRGAP3	0	LGGM	GRCh37	3	9055042	9055042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	23	4	.	.	ENST00000383836.3:c.2097G>T	p.Glu699Asp	p.E699D	ENST00000383836	NM_014850.3	699	gaG/gaT	0	1	1	UPI0000074099	0	getma.org/pdb.php?prot=SRGP3_HUMAN&from=601&to=800&var=E699D	ENST00000383836		ENSG00000196220	19744		27	1.205		HGNC	p.E675D		SRGAP3		SNV			1				ENST00000360413	protein_coding	getma.org/?cm=var&var=hg19,3,9055042,C,A&fts=all		hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166		E/D		A	low	2525/8656		getma.org/?cm=msa&ty=f&p=SRGP3_HUMAN&rb=601&re=800&var=E699D	tolerated(0.09)				YES	SRGAP3,missense_variant,p.Glu699Asp,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Glu675Asp,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,;							MODERATE	2097/3300	E699D	SRGP3_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000373347		CCDS2572.1			1	
LRP1	0	LGGM	GRCh37	12	57604577	57604577	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	17	4	.	.	ENST00000243077.3:c.12831C>A	p.Ala4277=	p.A4277=	ENST00000243077	NM_002332.2	4277	gcC/gcA	0	1	1	UPI00001B044F	0		ENST00000243077		ENSG00000123384	6692		21			HGNC	p.A4277A		LRP1		SNV							ENST00000243077	protein_coding			Gene3D:2.10.25.10,PROSITE_profiles:PS50026,SMART_domains:SM00181		A		A		13297/14897				Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;							LOW	12831/13635		LRP1_HUMAN			Transcript			.	ENSP00000243077		CCDS8932.1			1	
ZSCAN32	0	LGGM	GRCh37	16	3434725	3434725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	36	5	.	.	ENST00000304926.3:c.332G>T	p.Gly111Val	p.G111V	ENST00000304926	NM_017810.2	111	gGc/gTc	0	1		UPI000035DB5C	0	getma.org/pdb.php?prot=ZN434_HUMAN&from=41&to=126&var=G111V	ENST00000396846		ENSG00000140987	20812		41	3.185		HGNC	p.G34V		ZSCAN32		SNV							ENST00000439568	protein_coding	getma.org/?cm=var&var=hg19,16,3434725,C,A&fts=all		hmmpanther:PTHR10032:SF210,hmmpanther:PTHR10032,Pfam_domain:PF13837		G/V		A	medium	1156/3048		getma.org/?cm=msa&ty=f&p=ZN434_HUMAN&rb=41&re=126&var=G111V	deleterious(0)	I3L3J2_HUMAN,I3L1K0_HUMAN,B4DWL5_HUMAN				ZSCAN32,missense_variant,p.Gly323Val,ENST00000396852,NM_001284527.1;ZSCAN32,missense_variant,p.Gly323Val,ENST00000396846,;ZSCAN32,missense_variant,p.Gly111Val,ENST00000304926,NM_017810.2;ZSCAN32,missense_variant,p.Gly323Val,ENST00000574940,;ZSCAN32,missense_variant,p.Gly34Val,ENST00000439568,NM_001284529.1,NM_001284528.1;ZSCAN32,missense_variant,p.Gly323Val,ENST00000573327,;ZSCAN32,missense_variant,p.Gly111Val,ENST00000422427,;ZSCAN32,missense_variant,p.Gly111Val,ENST00000575350,;ZSCAN32,missense_variant,p.Gly34Val,ENST00000573830,;ZSCAN32,downstream_gene_variant,,ENST00000571906,;ZSCAN32,downstream_gene_variant,,ENST00000573719,;NAA60,downstream_gene_variant,,ENST00000576906,;ZSCAN32,3_prime_UTR_variant,,ENST00000576500,;ZSCAN32,non_coding_transcript_exon_variant,,ENST00000574084,;NAA60,intron_variant,,ENST00000575785,;ZSCAN32,upstream_gene_variant,,ENST00000571285,;							MODERATE	968/2094	G111V	ZSC32_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000380057		CCDS66921.1			1	
RASA2	0	LGGM	GRCh37	3	141231098	141231098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	71	5	.	.	ENST00000286364.3:c.227C>T	p.Thr76Ile	p.T76I	ENST00000286364		76	aCc/aTc	0	1	1	UPI00001351F5	0	getma.org/pdb.php?prot=RASA2_HUMAN&from=40&to=122&var=T76I	ENST00000286364		ENSG00000155903	9872		76	3.8		HGNC	p.T76I		RASA2		SNV			1				ENST00000286364	protein_coding	getma.org/?cm=var&var=hg19,3,141231098,C,T&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		T/I		T	high	262/5614		getma.org/?cm=msa&ty=f&p=RASA2_HUMAN&rb=40&re=122&var=T76I	deleterious(0)				YES	RASA2,missense_variant,p.Thr76Ile,ENST00000286364,;RASA2,missense_variant,p.Thr76Ile,ENST00000452898,NM_006506.2;RASA2,3_prime_UTR_variant,,ENST00000515549,;							MODERATE	227/2550	T76I	RASA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000286364		CCDS3117.1			1	
CRHR1	0	LGGM	GRCh37	17	43911374	43911374	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	17	6	.	.	ENST00000398285.3:c.1154G>A	p.Gly385Asp	p.G385D	ENST00000398285	NM_001145146.1	385	gGc/gAc	0	1	1	UPI0000128429	0	NA	ENST00000398285		ENSG00000120088	2357		23	3.915		HGNC	p.G356D		CRHR1		SNV							ENST00000314537	protein_coding	getma.org/?cm=var&var=hg19,17,43911374,G,A&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00249,Superfamily_domains:SSF81321,Pfam_domain:PF00002,PROSITE_patterns:PS00650,hmmpanther:PTHR12011:SF175,hmmpanther:PTHR12011,PROSITE_profiles:PS50261		G/D		A	high	1154/2399		getma.org/?cm=msa&ty=f&p=CRFR1_HUMAN&rb=168&re=388&var=G385D	deleterious(0)				YES	CRHR1,missense_variant,p.Gly356Asp,ENST00000314537,NM_001145148.1,NM_004382.4,NM_001145147.1;CRHR1,missense_variant,p.Gly385Asp,ENST00000398285,NM_001145146.1;CRHR1,missense_variant,p.Gly181Asp,ENST00000293493,NM_001256299.1;CRHR1,missense_variant,p.Ala210Thr,ENST00000339069,;CRHR1,missense_variant,p.Gly316Asp,ENST00000352855,;CRHR1,missense_variant,p.Ala55Thr,ENST00000580876,;CRHR1,intron_variant,,ENST00000577353,;CRHR1,splice_region_variant,,ENST00000347197,;CRHR1,splice_region_variant,,ENST00000535778,;CRHR1,intron_variant,,ENST00000583888,;CRHR1,downstream_gene_variant,,ENST00000582766,;CRHR1,downstream_gene_variant,,ENST00000581479,;CRHR1,downstream_gene_variant,,ENST00000580955,;							MODERATE	1154/1335	G385D	CRFR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381333		CCDS45712.1			1	
AXIN1	0	LGGM	GRCh37	16	343720	343720	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	3	7	.	.	ENST00000262320.3:c.1956-2A>G		p.X652_splice	ENST00000262320	NM_003502.3			0	1	1	UPI000012669E	0		ENST00000262320		ENSG00000103126	903		10			HGNC	-		AXIN1		SNV			1				ENST00000262320	protein_coding							C		-/3643							YES	AXIN1,splice_acceptor_variant,,ENST00000262320,NM_003502.3;AXIN1,splice_acceptor_variant,,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,splice_acceptor_variant,,ENST00000461023,;							HIGH	1956/2589		AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
NT5DC3	0	LGGM	GRCh37	12	104179174	104179174	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	56	7	.	.	ENST00000392876.3:c.1268A>T	p.Glu423Val	p.E423V	ENST00000392876	NM_001031701.2	423	gAg/gTg	0	1	1	UPI0000192759	0	getma.org/pdb.php?prot=NT5D3_HUMAN&from=85&to=532&var=E423V	ENST00000392876		ENSG00000111696	30826		63	2.25		HGNC	p.E423V		NT5DC3		SNV							ENST00000392876	protein_coding	getma.org/?cm=var&var=hg19,12,104179174,T,A&fts=all		Superfamily_domains:SSF56784,PIRSF_domain:PIRSF017434,Pfam_domain:PF05761,TIGRFAM_domain:TIGR02244,hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF11		E/V		A	medium	1309/7207		getma.org/?cm=msa&ty=f&p=NT5D3_HUMAN&rb=85&re=532&var=E423V	tolerated(0.11)				YES	NT5DC3,missense_variant,p.Glu423Val,ENST00000392876,NM_001031701.2;NT5DC3,downstream_gene_variant,,ENST00000474268,;NT5DC3,3_prime_UTR_variant,,ENST00000415849,;NT5DC3,upstream_gene_variant,,ENST00000447799,;							MODERATE	1268/1647	E423V	NT5D3_HUMAN			Transcript		possibly_damaging(0.71)	.	ENSP00000376615		CCDS41824.1			1	
IGHV6-1	0	LGGM	GRCh37	14	106406007	106406007	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	2	9	.	.	ENST00000390593.2:c.49+1G>T		p.X17_splice	ENST00000390593				0	1	1	UPI0000113C49	0		ENST00000390593		ENSG00000211933	5662		11			HGNC	-	rs782742030	IGHV6-1		SNV							ENST00000390593	IG_V_gene							A		-/415	1.53E-05						YES	IGHV6-1,splice_donor_variant,,ENST00000390593,;							HIGH	49/363					Transcript			.	ENSP00000375002	8.29E-06				1	
ANKRD31	0	LGGM	GRCh37	5	74484414	74484414	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	15	9	.	.	ENST00000506364.2:c.1468G>A	p.Glu490Lys	p.E490K	ENST00000506364		490	Gag/Aag	0	1		UPI00001D7FAE	0	NA	ENST00000274361		ENSG00000145700	26853		24	0.695		HGNC	p.E490K		ANKRD31		SNV							ENST00000506364	protein_coding	getma.org/?cm=var&var=hg19,5,74484414,C,T&fts=all		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403		E/K		T	neutral	1660/6036		getma.org/?cm=msa&ty=f&p=ANR31_HUMAN&rb=410&re=490&var=E490K	deleterious(0.04)	H0YAM5_HUMAN,D6RJB7_HUMAN				ANKRD31,missense_variant,p.Glu490Lys,ENST00000506364,;ANKRD31,missense_variant,p.Glu490Lys,ENST00000274361,NM_001164443.1;							MODERATE	1468/5622	E490K	ANR31_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000274361		CCDS47233.1			1	
STK36	0	LGGM	GRCh37	2	219562286	219562286	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	29	10	.	.	ENST00000295709.3:c.2862C>G	p.Ile954Met	p.I954M	ENST00000295709	NM_015690.4	954	atC/atG	0	1	1	UPI00000342FC	0	NA	ENST00000295709		ENSG00000163482	17209		39	-0.345		HGNC	p.I933M		STK36		SNV							ENST00000392105	protein_coding	getma.org/?cm=var&var=hg19,2,219562286,C,G&fts=all		hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983		I/M		G	neutral	3141/4933		getma.org/?cm=msa&ty=f&p=STK36_HUMAN&rb=381&re=1106&var=I954M	deleterious(0.04)	C9JDA4_HUMAN,C9J1B8_HUMAN			YES	STK36,missense_variant,p.Ile954Met,ENST00000295709,NM_015690.4;STK36,missense_variant,p.Ile933Met,ENST00000392106,;STK36,missense_variant,p.Ile933Met,ENST00000392105,NM_001243313.1;STK36,missense_variant,p.Ile954Met,ENST00000440309,;STK36,missense_variant,p.Ile117Met,ENST00000419433,;STK36,non_coding_transcript_exon_variant,,ENST00000462031,;STK36,downstream_gene_variant,,ENST00000486644,;STK36,downstream_gene_variant,,ENST00000492486,;STK36,downstream_gene_variant,,ENST00000473681,;							MODERATE	2862/3948	I954M	STK36_HUMAN			Transcript		benign(0.141)	.	ENSP00000295709		CCDS2421.1			1	
TLE4	0	LGGM	GRCh37	9	82337466	82337466	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080931	H080931N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	22	12	.	.	ENST00000376552.2:c.2087A>G	p.Gln696Arg	p.Q696R	ENST00000376552	NM_007005.3	696	cAa/cGa	0	1	1	UPI00001CE3BA	0	getma.org/pdb.php?prot=TLE4_HUMAN&from=692&to=729&var=Q696R	ENST00000376552		ENSG00000106829	11840		34	1.89		HGNC	p.Q728R		TLE4		SNV							ENST00000376520	protein_coding	getma.org/?cm=var&var=hg19,9,82337466,A,G&fts=all		hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF21,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR01850		Q/R		G	low	3105/3695		getma.org/?cm=msa&ty=f&p=TLE4_HUMAN&rb=692&re=729&var=Q696R	deleterious(0)	B3KQ29_HUMAN			YES	TLE4,missense_variant,p.Gln728Arg,ENST00000376520,;TLE4,missense_variant,p.Gln627Arg,ENST00000376544,NM_001282753.1;TLE4,missense_variant,p.Gln696Arg,ENST00000376552,NM_007005.3;TLE4,missense_variant,p.Gln333Arg,ENST00000376534,;TLE4,missense_variant,p.Gln728Arg,ENST00000376537,NM_001282748.1;TLE4,missense_variant,p.Gln671Arg,ENST00000265284,NM_001282749.1;TLE4,downstream_gene_variant,,ENST00000496114,;TLE4,non_coding_transcript_exon_variant,,ENST00000478290,;TLE4,3_prime_UTR_variant,,ENST00000470872,;TLE4,3_prime_UTR_variant,,ENST00000462803,;RP11-79D8.2,upstream_gene_variant,,ENST00000440700,;							MODERATE	2087/2322	Q696R	TLE4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000365735		CCDS43837.1			1	
OSBPL11	0	LGGM	GRCh37	3	125297881	125297881	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	28	13	.	.	ENST00000296220.5:c.412A>G	p.Thr138Ala	p.T138A	ENST00000296220	NM_022776.4	138	Aca/Gca	0	1	1	UPI0000130E9C	0	getma.org/pdb.php?prot=OSB11_HUMAN&from=60&to=155&var=T138A	ENST00000296220		ENSG00000144909	16397		41	-0.39		HGNC	p.T138A	rs752114945	OSBPL11		SNV							ENST00000296220	protein_coding	getma.org/?cm=var&var=hg19,3,125297881,T,C&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF46,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		T/A		C	neutral	702/4191		getma.org/?cm=msa&ty=f&p=OSB11_HUMAN&rb=60&re=155&var=T138A	tolerated(1)	Q9GZM0_HUMAN			YES	OSBPL11,missense_variant,p.Thr138Ala,ENST00000296220,NM_022776.4;	0.000116						MODERATE	412/2244	T138A	OSB11_HUMAN			Transcript		benign(0.171)	.	ENSP00000296220	8.24E-06	CCDS3033.1			1	
FBXW11	0	LGGM	GRCh37	5	171337636	171337636	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	17	15	.	.	ENST00000265094.5:c.313G>A	p.Gly105Arg	p.G105R	ENST00000265094	NM_012300.2	105	Gga/Aga	0	1	1	UPI000012ADB8	0	getma.org/pdb.php?prot=FBW1B_HUMAN&from=77&to=116&var=G105R	ENST00000265094		ENSG00000072803	13607		32	2.62		HGNC	p.G105R		FBXW11		SNV							ENST00000265094	protein_coding	getma.org/?cm=var&var=hg19,5,171337636,C,T&fts=all		SMART_domains:SM01028,Pfam_domain:PF12125,hmmpanther:PTHR22844:SF123,hmmpanther:PTHR22844		G/R		T	medium	451/4342		getma.org/?cm=msa&ty=f&p=FBW1B_HUMAN&rb=77&re=116&var=G105R	deleterious(0.02)				YES	FBXW11,missense_variant,p.Gly92Arg,ENST00000296933,NM_033645.2,NM_033644.2;FBXW11,missense_variant,p.Gly105Arg,ENST00000265094,NM_012300.2;FBXW11,missense_variant,p.Gly71Arg,ENST00000393802,;FBXW11,missense_variant,p.Gly73Arg,ENST00000425623,;FBXW11,missense_variant,p.Gly126Arg,ENST00000517395,;FBXW11,downstream_gene_variant,,ENST00000518752,;FBXW11,upstream_gene_variant,,ENST00000522891,;FBXW11,downstream_gene_variant,,ENST00000522507,;FBXW11,3_prime_UTR_variant,,ENST00000523843,;FBXW11,3_prime_UTR_variant,,ENST00000519693,;FBXW11,3_prime_UTR_variant,,ENST00000520376,;							MODERATE	313/1629	G105R	FBW1B_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000265094		CCDS34289.1			1	
FBXW11	0	LGGM	GRCh37	5	171337635	171337635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	17	15	.	.	ENST00000265094.5:c.314G>T	p.Gly105Val	p.G105V	ENST00000265094	NM_012300.2	105	gGa/gTa	0	1	1	UPI000012ADB8	0	getma.org/pdb.php?prot=FBW1B_HUMAN&from=77&to=116&var=G105V	ENST00000265094		ENSG00000072803	13607		32	2.62		HGNC	p.G105V		FBXW11		SNV							ENST00000265094	protein_coding	getma.org/?cm=var&var=hg19,5,171337635,C,A&fts=all		SMART_domains:SM01028,Pfam_domain:PF12125,hmmpanther:PTHR22844:SF123,hmmpanther:PTHR22844		G/V		A	medium	452/4342		getma.org/?cm=msa&ty=f&p=FBW1B_HUMAN&rb=77&re=116&var=G105V	tolerated(0.11)				YES	FBXW11,missense_variant,p.Gly92Val,ENST00000296933,NM_033645.2,NM_033644.2;FBXW11,missense_variant,p.Gly105Val,ENST00000265094,NM_012300.2;FBXW11,missense_variant,p.Gly71Val,ENST00000393802,;FBXW11,missense_variant,p.Gly73Val,ENST00000425623,;FBXW11,missense_variant,p.Gly126Val,ENST00000517395,;FBXW11,downstream_gene_variant,,ENST00000518752,;FBXW11,upstream_gene_variant,,ENST00000522891,;FBXW11,downstream_gene_variant,,ENST00000522507,;FBXW11,3_prime_UTR_variant,,ENST00000523843,;FBXW11,3_prime_UTR_variant,,ENST00000519693,;FBXW11,3_prime_UTR_variant,,ENST00000520376,;							MODERATE	314/1629	G105V	FBW1B_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000265094		CCDS34289.1			1	
CSMD3	0	LGGM	GRCh37	8	113702264	113702264	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	142	16	.	.	ENST00000297405.5:c.1988G>A	p.Ser663Asn	p.S663N	ENST00000297405	NM_198123.1	663	aGt/aAt	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=662&to=719&var=S663N	ENST00000297405		ENSG00000164796	19291		158	1.77		HGNC	p.S663N		CSMD3		SNV							ENST00000297405	protein_coding	getma.org/?cm=var&var=hg19,8,113702264,C,T&fts=all		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,Superfamily_domains:SSF57535		S/N		T	low	2233/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=662&re=719&var=S663N	deleterious(0.01)				YES	CSMD3,missense_variant,p.Ser663Asn,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser623Asn,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser663Asn,ENST00000352409,;CSMD3,missense_variant,p.Ser559Asn,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser3Asn,ENST00000339701,;							MODERATE	1988/11124	S663N	CSMD3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000297405		CCDS6315.1			1	
MED28	0	LGGM	GRCh37	4	17616351	17616351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	50	18	.	.	ENST00000237380.7:c.74G>T	p.Gly25Val	p.G25V	ENST00000237380	NM_025205.3	25	gGc/gTc	0	1	1	UPI000006DB49	0	NA	ENST00000237380		ENSG00000118579	24628		68	0.975		HGNC	p.G25V		MED28		SNV							ENST00000237380	protein_coding	getma.org/?cm=var&var=hg19,4,17616351,G,T&fts=all		hmmpanther:PTHR13512,hmmpanther:PTHR13512:SF2,Low_complexity_(Seg):seg		G/V		T	low	98/10868		getma.org/?cm=msa&ty=f&p=MED28_HUMAN&rb=1&re=71&var=G25V	tolerated_low_confidence(0.05)				YES	MED28,missense_variant,p.Gly25Val,ENST00000237380,NM_025205.3;AC006160.5,upstream_gene_variant,,ENST00000511010,;MED28,missense_variant,p.Gly22Val,ENST00000503945,;MED28,non_coding_transcript_exon_variant,,ENST00000506409,;							MODERATE	74/537	G25V	MED28_HUMAN			Transcript		benign(0.012)	.	ENSP00000237380		CCDS33963.1			1	
ATF4	0	LGGM	GRCh37	22	39917542	39917542	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	21	19	.	.	ENST00000337304.2:c.92T>G	p.Leu31Arg	p.L31R	ENST00000337304	NM_001675.2	31	cTa/cGa	0	1	1	UPI000000DABF	0	NA	ENST00000337304		ENSG00000128272	786		40	2.215		HGNC	p.L31R		ATF4		SNV							ENST00000337304	protein_coding	getma.org/?cm=var&var=hg19,22,39917542,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13044:SF2,hmmpanther:PTHR13044		L/R		G	medium	974/2019		getma.org/?cm=msa&ty=f&p=ATF4_HUMAN&rb=1&re=200&var=L31R	deleterious(0.02)	Q96AQ3_HUMAN,B4DJD4_HUMAN			YES	ATF4,missense_variant,p.Leu31Arg,ENST00000337304,NM_001675.2;ATF4,missense_variant,p.Leu31Arg,ENST00000404241,;ATF4,missense_variant,p.Leu31Arg,ENST00000396680,NM_182810.1;MIEF1,downstream_gene_variant,,ENST00000325301,NM_019008.4;							MODERATE	92/1056	L31R	ATF4_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000336790		CCDS13996.1			1	
CDH18	0	LGGM	GRCh37	5	19838998	19838998	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080931	H080931N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	26	19	.	.	ENST00000507958.1:c.98T>C	p.Val33Ala	p.V33A	ENST00000507958		33	gTg/gCg	0	1		UPI0000126DBD	0	NA	ENST00000274170		ENSG00000145526	1757		45	0.345		HGNC	p.V33A	COSM1436840,COSM1436839	CDH18		SNV						1,1	ENST00000506372	protein_coding	getma.org/?cm=var&var=hg19,5,19838998,A,G&fts=all		hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027		V/A		G	neutral	610/2885		getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=1&re=41&var=V33A	tolerated(0.56)					CDH18,missense_variant,p.Val33Ala,ENST00000507958,;CDH18,missense_variant,p.Val33Ala,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Val33Ala,ENST00000274170,;CDH18,missense_variant,p.Val33Ala,ENST00000506372,;CDH18,missense_variant,p.Val33Ala,ENST00000502796,;CDH18,missense_variant,p.Val33Ala,ENST00000511273,;CDH18,upstream_gene_variant,,ENST00000515257,;CDH18,downstream_gene_variant,,ENST00000507632,;CDH18,downstream_gene_variant,,ENST00000511423,;CDH18,downstream_gene_variant,,ENST00000503132,;					1,1		MODERATE	98/2373	V33A	CAD18_HUMAN			Transcript		benign(0.001)	.	ENSP00000274170		CCDS3889.1			1	
HECTD1	0	LGGM	GRCh37	14	31574801	31574801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	31	20	.	.	ENST00000399332.1:c.7300G>T	p.Asp2434Tyr	p.D2434Y	ENST00000399332	NM_015382.2	2434	Gat/Tat	0	1	1	UPI0000E8AC98	0	getma.org/pdb.php?prot=HECD1_HUMAN&from=2179&to=2610&var=D2434Y	ENST00000399332		ENSG00000092148	20157		51	2.4		HGNC	p.D2434Y		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31574801,C,A&fts=all		Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,Gene3D:1c4zA02,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50237		D/Y		A	medium	7789/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=2179&re=2610&var=D2434Y	deleterious(0)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Asp2434Tyr,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Asp2434Tyr,ENST00000553700,;HECTD1,missense_variant,p.Asp800Tyr,ENST00000554882,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;HECTD1,non_coding_transcript_exon_variant,,ENST00000557695,;HECTD1,upstream_gene_variant,,ENST00000556281,;HECTD1,downstream_gene_variant,,ENST00000555311,;							MODERATE	7300/7833	D2434Y	HECD1_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000382269		CCDS41939.1			1	
OPRM1	0	LGGM	GRCh37	6	154412237	154412237	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	38	20	.	.	ENST00000434900.2:c.1073G>A	p.Arg358His	p.R358H	ENST00000434900	NM_001145279.2	358	cGc/cAc	0	1		UPI0000130D9C	0	getma.org/pdb.php?prot=OPRM_HUMAN&from=87&to=338&var=R265H	ENST00000330432		ENSG00000112038	8156		58	2.59		HGNC	p.R265H	rs376950705,COSM1644856,COSM1644857,COSM1644855	OPRM1	6.06E-05	SNV	A:0.0005			0.000714		0,1,1,1	ENST00000337049	protein_coding	getma.org/?cm=var&var=hg19,6,154412237,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		R/H	A:0	A	medium	1031/2178	3.00E-05	getma.org/?cm=msa&ty=f&p=OPRM_HUMAN&rb=87&re=338&var=R265H	deleterious(0)	Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN				OPRM1,missense_variant,p.Arg265His,ENST00000414028,NM_001145284.2;OPRM1,missense_variant,p.Arg165His,ENST00000522236,NM_001145287.1;OPRM1,missense_variant,p.Arg165His,ENST00000522555,NM_001285526.1;OPRM1,missense_variant,p.Arg265His,ENST00000435918,NM_001145283.1;OPRM1,missense_variant,p.Arg265His,ENST00000330432,NM_000914.3,NM_001285524.1;OPRM1,missense_variant,p.Arg358His,ENST00000434900,NM_001145279.2;OPRM1,missense_variant,p.Arg165His,ENST00000520708,;OPRM1,missense_variant,p.Arg265His,ENST00000428397,NM_001008504.2;OPRM1,missense_variant,p.Arg265His,ENST00000229768,NM_001008505.1;OPRM1,missense_variant,p.Arg265His,ENST00000360422,NM_001285523.1;OPRM1,missense_variant,p.Arg265His,ENST00000419506,NM_001145286.1;OPRM1,missense_variant,p.Arg265His,ENST00000337049,NM_001008503.1;OPRM1,missense_variant,p.Arg265His,ENST00000452687,NM_001145282.1;OPRM1,missense_variant,p.Arg265His,ENST00000524163,NM_001145285.1;OPRM1,missense_variant,p.Arg184His,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.Arg265His,ENST00000519083,;OPRM1,missense_variant,p.Arg265His,ENST00000522739,;OPRM1,synonymous_variant,p.=,ENST00000524150,;					0,1,1,1		MODERATE	794/1203	R265H	OPRM_HUMAN			Transcript		probably_damaging(1)	common_variant	ENSP00000328264	8.24E-05	CCDS55070.1			1	
DIP2B	0	LGGM	GRCh37	12	51065173	51065173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	13	23	.	.	ENST00000301180.5:c.632C>T	p.Thr211Ile	p.T211I	ENST00000301180	NM_173602.2	211	aCt/aTt	0	1	1	UPI0000406CA1	0	NA	ENST00000301180		ENSG00000066084	29284		36	1.59		HGNC	p.T211I		DIP2B		SNV							ENST00000301180	protein_coding	getma.org/?cm=var&var=hg19,12,51065173,C,T&fts=all		hmmpanther:PTHR22754:SF22,hmmpanther:PTHR22754		T/I		T	low	666/8593		getma.org/?cm=msa&ty=f&p=DIP2B_HUMAN&rb=132&re=331&var=T211I	deleterious(0.04)	Q96IB4_HUMAN			YES	DIP2B,missense_variant,p.Thr211Ile,ENST00000301180,NM_173602.2;DIP2B,non_coding_transcript_exon_variant,,ENST00000549620,;DIP2B,non_coding_transcript_exon_variant,,ENST00000546719,;							MODERATE	632/4731	T211I	DIP2B_HUMAN			Transcript		benign(0.059)	.	ENSP00000301180		CCDS31799.1			1	
DNAH9	0	LGGM	GRCh37	17	11568253	11568253	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080931	H080931N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	44	23	.	.	ENST00000262442.4:c.2699A>T	p.Glu900Val	p.E900V	ENST00000262442	NM_001372.3	900	gAg/gTg	0	1	1	UPI0000141BA2	0	NA	ENST00000262442		ENSG00000007174	2953		67	2.25		HGNC	p.E900V		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11568253,A,T&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676		E/V		T	medium	2767/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=792&re=991&var=E900V		Q92865_HUMAN			YES	DNAH9,missense_variant,p.Glu900Val,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Glu900Val,ENST00000454412,;							MODERATE	2699/13461	E900V	DYH9_HUMAN			Transcript		benign(0.004)	.	ENSP00000262442		CCDS11160.1			1	
ARHGEF33	0	LGGM	GRCh37	2	39181546	39181546	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	24	23	.	.	ENST00000409978.1:c.1170G>A	p.Thr390=	p.T390=	ENST00000409978		390	acG/acA	0	1	1	UPI000188157A	0		ENST00000409978		ENSG00000214694	37252		47			HGNC	p.T390T	rs777389336	ARHGEF33		SNV							ENST00000409978	protein_coding			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF16,SMART_domains:SM00325,Superfamily_domains:SSF48065		T		A		1435/4484							YES	ARHGEF33,synonymous_variant,p.=,ENST00000409978,;ARHGEF33,synonymous_variant,p.=,ENST00000398800,NM_001145451.2;ARHGEF33,synonymous_variant,p.=,ENST00000536934,;ARHGEF33,upstream_gene_variant,,ENST00000483305,;ARHGEF33,upstream_gene_variant,,ENST00000486958,;							LOW	1170/2613		ARG33_HUMAN			Transcript			.	ENSP00000387020		CCDS46263.2			1	
RGN	0	LGGM	GRCh37	X	46940579	46940579	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	34	24	.	.	ENST00000397180.1:c.36G>A	p.Glu12=	p.E12=	ENST00000397180	NM_152869.2	12	gaG/gaA	0	1		UPI0000135A59	0		ENST00000336169		ENSG00000130988	9989		58			HGNC	p.E12E		RGN		SNV							ENST00000352078	protein_coding			Gene3D:2.120.10.30,hmmpanther:PTHR10907,hmmpanther:PTHR10907:SF52,Superfamily_domains:SSF63829		E		A		129/1356								RGN,synonymous_variant,p.=,ENST00000397180,NM_152869.2;RGN,synonymous_variant,p.=,ENST00000457380,NM_001282849.1;RGN,synonymous_variant,p.=,ENST00000352078,NM_004683.4;RGN,synonymous_variant,p.=,ENST00000336169,;RGN,non_coding_transcript_exon_variant,,ENST00000469346,;RGN,upstream_gene_variant,,ENST00000475448,;							LOW	36/900		RGN_HUMAN			Transcript			.	ENSP00000338400		CCDS14272.1			1	
TUBGCP5	0	LGGM	GRCh37	15	22848937	22848937	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080931	H080931N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	26	25	.	.	ENST00000283645.4:c.984G>C	p.Gln328His	p.Q328H	ENST00000283645	NM_052903.4	328	caG/caC	0	1	1	UPI000012B2EE	0	NA	ENST00000283645		ENSG00000153575	18600		51	1.355		HGNC	p.Q328H		TUBGCP5		SNV							ENST00000283645	protein_coding	getma.org/?cm=var&var=hg19,15,22848937,G,C&fts=all		hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF33,Pfam_domain:PF04130		Q/H		C	low	1114/3849		getma.org/?cm=msa&ty=f&p=GCP5_HUMAN&rb=273&re=942&var=Q328H	tolerated(0.11)				YES	TUBGCP5,missense_variant,p.Gln328His,ENST00000283645,NM_052903.4;TUBGCP5,missense_variant,p.Gln328His,ENST00000453949,NM_001102610.1;TUBGCP5,downstream_gene_variant,,ENST00000558664,;TUBGCP5,non_coding_transcript_exon_variant,,ENST00000559846,;							MODERATE	984/3075	Q328H	GCP5_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000283645		CCDS10008.1			1	
EXT2	0	LGGM	GRCh37	11	44130802	44130802	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	30	26	.	.	ENST00000395673.3:c.694T>G	p.Tyr232Asp	p.Y232D	ENST00000395673	NM_000401.3	232	Tat/Gat	0	1		UPI000012A3A5	0	NA	ENST00000343631		ENSG00000151348	3513		56	2.95		HGNC	p.Y199D		EXT2		SNV			1				ENST00000358681	protein_coding	getma.org/?cm=var&var=hg19,11,44130802,T,G&fts=all		Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF6		Y/D		G	medium	724/3424		getma.org/?cm=msa&ty=f&p=EXT2_HUMAN&rb=100&re=380&var=Y199D	deleterious(0)	E9PNL9_HUMAN,E9PJA5_HUMAN				EXT2,missense_variant,p.Tyr232Asp,ENST00000395673,NM_000401.3;EXT2,missense_variant,p.Tyr199Asp,ENST00000343631,;EXT2,missense_variant,p.Tyr199Asp,ENST00000533608,NM_207122.1;EXT2,missense_variant,p.Tyr199Asp,ENST00000358681,NM_001178083.1;EXT2,downstream_gene_variant,,ENST00000527014,;EXT2,downstream_gene_variant,,ENST00000532479,;EXT2,non_coding_transcript_exon_variant,,ENST00000529186,;							MODERATE	595/2157	Y199D	EXT2_HUMAN			Transcript		possibly_damaging(0.542)	.	ENSP00000342656		CCDS7908.1			1	
ADGB	0	LGGM	GRCh37	6	147123006	147123006	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	42	30	.	.	ENST00000397944.3:c.4677T>A	p.Asn1559Lys	p.N1559K	ENST00000397944	NM_024694.3	1559	aaT/aaA	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		72	0.345		HGNC	p.N4K		ADGB		SNV							ENST00000367489	protein_coding	getma.org/?cm=var&var=hg19,6,147123006,T,A&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		N/K		A	neutral	4753/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=1401&re=1600&var=N1559K	tolerated(0.93)				YES	ADGB,missense_variant,p.Asn1559Lys,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Asn517Lys,ENST00000367490,;ADGB,missense_variant,p.Asn4Lys,ENST00000367489,;ADGB,3_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000367488,;ADGB,downstream_gene_variant,,ENST00000326916,;KATNBL1P6,downstream_gene_variant,,ENST00000562413,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,3_prime_UTR_variant,,ENST00000480328,;KATNBL1P6,downstream_gene_variant,,ENST00000453433,;							MODERATE	4677/5004	N1559K	ADGB_HUMAN			Transcript		benign(0.118)	.	ENSP00000381036					1	
COLGALT2	0	LGGM	GRCh37	1	183909848	183909848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	37	47	.	.	ENST00000361927.4:c.1471G>A	p.Ala491Thr	p.A491T	ENST00000361927	NM_015101.2	491	Gcc/Acc	0	1	1	UPI000007423A	0	NA	ENST00000361927		ENSG00000198756	16790		84	3.11		HGNC	p.A491T		COLGALT2		SNV							ENST00000361927	protein_coding	getma.org/?cm=var&var=hg19,1,183909848,C,T&fts=all		Pfam_domain:PF01755,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF8		A/T		T	medium	1843/5177		getma.org/?cm=msa&ty=f&p=GT252_HUMAN&rb=341&re=526&var=A491T	deleterious(0)	Q5SXQ5_HUMAN,B3KT92_HUMAN			YES	COLGALT2,missense_variant,p.Ala491Thr,ENST00000361927,NM_015101.2;COLGALT2,missense_variant,p.Ala99Thr,ENST00000367521,;COLGALT2,missense_variant,p.Ala491Thr,ENST00000546159,;COLGALT2,missense_variant,p.Ala228Thr,ENST00000367520,;COLGALT2,non_coding_transcript_exon_variant,,ENST00000486375,;							MODERATE	1471/1881	A491T	GT252_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000354960		CCDS1360.1			1	
AHNAK2	0	LGGM	GRCh37	14	105419615	105419615	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080931	H080931N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	26	75	.	.	ENST00000333244.5:c.2173G>A	p.Val725Ile	p.V725I	ENST00000333244	NM_138420.2	725	Gtc/Atc	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		101	-0.47		HGNC	p.V725I	rs375468649	AHNAK2	0.000484	SNV				0.000205			ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105419615,C,T&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		V/I		T	neutral	2293/18254	3.00E-05	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=601&re=800&var=V725I					YES	AHNAK2,missense_variant,p.Val725Ile,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	2173/17388	V725I	AHNK2_HUMAN			Transcript		benign(0.008)	common_variant	ENSP00000353114	9.93E-05	CCDS45177.1			1	
ATRX	0	LGGM	GRCh37	X	76938135	76938135	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080931	H080931N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080931N.bam, H080931T.bam	Illumina HiSeq	158	102	.	.	ENST00000373344.5:c.2613A>G	p.Ser871=	p.S871=	ENST00000373344	NM_000489.3	871	tcA/tcG	0	1	1	UPI0000161F78	0		ENST00000373344		ENSG00000085224	886		260			HGNC	p.S833S		ATRX		SNV			1				ENST00000395603	protein_coding			hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		S		C		2828/11167				B4DLE1_HUMAN			YES	ATRX,synonymous_variant,p.=,ENST00000373344,NM_000489.3;ATRX,synonymous_variant,p.=,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;							LOW	2613/7479		ATRX_HUMAN			Transcript			.	ENSP00000362441		CCDS14434.1			1	
CDKN2A	0	LGGM	GRCh37	9	21971209	21971209	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	7	2	.	.	ENST00000304494.5:c.151-2A>G		p.X51_splice	ENST00000304494	NM_000077.4			0	1		UPI0000047FDA	0		ENST00000304494		ENSG00000147889	1787		9			HGNC	-	COSM133833,COSM3656627,COSM3656629,COSM3656628	CDKN2A		SNV			1			1,1,1,1	ENST00000361570	protein_coding							C		-/1218				Q9UPB7_HUMAN,K7PML8_HUMAN				CDKN2A,splice_acceptor_variant,,ENST00000579755,;CDKN2A,splice_acceptor_variant,,ENST00000304494,NM_000077.4;CDKN2A,splice_acceptor_variant,,ENST00000361570,NM_058195.3;CDKN2A,splice_acceptor_variant,,ENST00000494262,;CDKN2A,splice_acceptor_variant,,ENST00000498628,;CDKN2A,splice_acceptor_variant,,ENST00000498124,NM_001195132.1;CDKN2A,splice_acceptor_variant,,ENST00000530628,;CDKN2A,splice_acceptor_variant,,ENST00000446177,;CDKN2A,splice_acceptor_variant,,ENST00000579122,;CDKN2A,splice_acceptor_variant,,ENST00000497750,;CDKN2A,splice_acceptor_variant,,ENST00000479692,;CDKN2A,5_prime_UTR_variant,,ENST00000578845,;C9orf53,downstream_gene_variant,,ENST00000441769,;CDKN2A,non_coding_transcript_exon_variant,,ENST00000380150,;CDKN2A,upstream_gene_variant,,ENST00000577854,;CDKN2A,splice_acceptor_variant,,ENST00000380151,;RP11-145E5.5,intron_variant,,ENST00000404796,;					1,1,1,1		HIGH	151/471		CD2A1_HUMAN			Transcript			.	ENSP00000307101		CCDS6510.1			1	
MYO18B	0	LGGM	GRCh37	22	26242212	26242212	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	14	2	.	.	ENST00000335473.7:c.3514A>G	p.Arg1172Gly	p.R1172G	ENST00000335473	NM_032608.5	1172	Agg/Ggg	0	1		UPI0000207402	0	getma.org/pdb.php?prot=MY18B_HUMAN&from=573&to=1216&var=R1172G	ENST00000536101		ENSG00000133454	18150		16	1.01		HGNC	p.R1172G		MYO18B		SNV							ENST00000335473	protein_coding	getma.org/?cm=var&var=hg19,22,26242212,A,G&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/G		G	low	3773/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=573&re=1216&var=R1172G	deleterious(0.01)	Q8N903_HUMAN				MYO18B,missense_variant,p.Arg1172Gly,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Arg1173Gly,ENST00000407587,;MYO18B,missense_variant,p.Arg1172Gly,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	3514/7704	R1172G				Transcript		possibly_damaging(0.777)	.	ENSP00000441229		CCDS54507.1			1	
PANK4	0	LGGM	GRCh37	1	2449618	2449618	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	12	2	.	.	ENST00000378466.3:c.1203G>A	p.Arg401=	p.R401=	ENST00000378466	NM_018216.1	401	cgG/cgA	0	1	1	UPI000000DA54	0		ENST00000378466		ENSG00000157881	19366		14			HGNC	p.R362R		PANK4		SNV							ENST00000435556	protein_coding			hmmpanther:PTHR12280,PIRSF_domain:PIRSF036939		R		T		1216/2649							YES	PANK4,synonymous_variant,p.=,ENST00000378466,NM_018216.1;PANK4,synonymous_variant,p.=,ENST00000435556,;PANK4,downstream_gene_variant,,ENST00000491212,;PANK4,synonymous_variant,p.=,ENST00000505228,;PANK4,synonymous_variant,p.=,ENST00000468002,;PANK4,downstream_gene_variant,,ENST00000502770,;PANK4,downstream_gene_variant,,ENST00000486396,;PANK4,upstream_gene_variant,,ENST00000487804,;PANK4,upstream_gene_variant,,ENST00000502512,;PANK4,downstream_gene_variant,,ENST00000514922,;PANK4,upstream_gene_variant,,ENST00000515423,;							LOW	1203/2322		PANK4_HUMAN			Transcript			.	ENSP00000367727		CCDS42.1			1	
GOLGA3	0	LGGM	GRCh37	12	133362952	133362952	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	7	2	.	.	ENST00000204726.3:c.3096C>A	p.Gly1032=	p.G1032=	ENST00000204726	NM_005895.3	1032	ggC/ggA	0	1	1	UPI0000190979	0		ENST00000204726		ENSG00000090615	4426		9			HGNC	p.G1032G		GOLGA3		SNV							ENST00000204726	protein_coding			hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902		G		T		3655/9252							YES	GOLGA3,synonymous_variant,p.=,ENST00000204726,NM_005895.3;GOLGA3,synonymous_variant,p.=,ENST00000450791,;GOLGA3,synonymous_variant,p.=,ENST00000456883,;GOLGA3,synonymous_variant,p.=,ENST00000545875,NM_001172557.1;GOLGA3,synonymous_variant,p.=,ENST00000537452,;							LOW	3096/4497		GOGA3_HUMAN			Transcript			.	ENSP00000204726		CCDS9281.1			1	
BRICD5	0	LGGM	GRCh37	16	2260538	2260538	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	13	2	.	.	ENST00000328540.3:c.165T>C	p.Ala55=	p.A55=	ENST00000328540	NM_182563.3	55	gcT/gcC	0	1		UPI0001E24F23	0		ENST00000562360		ENSG00000182685	28309		15			HGNC	p.A55A	rs373386363	BRICD5		SNV	C:0						ENST00000562360	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16483:SF0,hmmpanther:PTHR16483		A	C:0.0001	G		165/783	3.12E-05							BRICD5,synonymous_variant,p.=,ENST00000328540,NM_182563.3;BRICD5,synonymous_variant,p.=,ENST00000562360,;BRICD5,synonymous_variant,p.=,ENST00000566018,;PGP,downstream_gene_variant,,ENST00000333503,NM_001042371.2;MLST8,downstream_gene_variant,,ENST00000569417,NM_022372.4;MLST8,downstream_gene_variant,,ENST00000382450,NM_001199175.1;MLST8,downstream_gene_variant,,ENST00000564088,NM_001199173.1;MLST8,downstream_gene_variant,,ENST00000301724,;MLST8,downstream_gene_variant,,ENST00000397124,NM_001199174.1;MLST8,downstream_gene_variant,,ENST00000565250,;MLST8,downstream_gene_variant,,ENST00000301725,;MLST8,downstream_gene_variant,,ENST00000562352,;MLST8,downstream_gene_variant,,ENST00000569457,;MLST8,downstream_gene_variant,,ENST00000562479,;MLST8,downstream_gene_variant,,ENST00000563179,;RP11-304L19.8,upstream_gene_variant,,ENST00000561544,;MLST8,downstream_gene_variant,,ENST00000561651,;MLST8,downstream_gene_variant,,ENST00000562844,;MLST8,downstream_gene_variant,,ENST00000564319,;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,;MLST8,downstream_gene_variant,,ENST00000565687,;MLST8,downstream_gene_variant,,ENST00000564294,;MLST8,downstream_gene_variant,,ENST00000570224,;MLST8,downstream_gene_variant,,ENST00000565717,;PGP,downstream_gene_variant,,ENST00000562001,;MLST8,downstream_gene_variant,,ENST00000567623,;MLST8,downstream_gene_variant,,ENST00000567282,;MLST8,downstream_gene_variant,,ENST00000563107,;MLST8,downstream_gene_variant,,ENST00000562239,;MLST8,downstream_gene_variant,,ENST00000564679,;MLST8,downstream_gene_variant,,ENST00000566653,;MLST8,downstream_gene_variant,,ENST00000565269,;MLST8,downstream_gene_variant,,ENST00000562851,;MLST8,downstream_gene_variant,,ENST00000569848,;MLST8,downstream_gene_variant,,ENST00000567928,;BRICD5,upstream_gene_variant,,ENST00000566795,;							LOW	165/783		BRID5_HUMAN			Transcript			.	ENSP00000455052	1.65E-05				1	
TENC1	0	LGGM	GRCh37	12	53450856	53450856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	2	2	.	.	ENST00000314276.3:c.851C>A	p.Thr284Lys	p.T284K	ENST00000314276	NM_015319.2	284	aCa/aAa	0	1		UPI000013F7A1	0	getma.org/pdb.php?prot=TENC1_HUMAN&from=122&to=294&var=T274K	ENST00000314250		ENSG00000111077	19737		4	0.11		HGNC	p.T274K		TENC1		SNV							ENST00000546602	protein_coding	getma.org/?cm=var&var=hg19,12,53450856,C,A&fts=all		PROSITE_profiles:PS51181,hmmpanther:PTHR12583,hmmpanther:PTHR12583:SF21,Gene3D:3.90.190.10,Superfamily_domains:SSF52799		T/K		A	neutral	1111/5010		getma.org/?cm=msa&ty=f&p=TENC1_HUMAN&rb=122&re=294&var=T274K	deleterious(0.01)					TENC1,missense_variant,p.Thr274Lys,ENST00000314250,NM_170754.2;TENC1,missense_variant,p.Thr274Lys,ENST00000451358,;TENC1,missense_variant,p.Thr284Lys,ENST00000314276,NM_015319.2;TENC1,missense_variant,p.Thr150Lys,ENST00000379902,NM_198316.1;TENC1,missense_variant,p.Thr274Lys,ENST00000552570,;TENC1,missense_variant,p.Thr274Lys,ENST00000549700,;TENC1,missense_variant,p.Thr274Lys,ENST00000546602,;TENC1,upstream_gene_variant,,ENST00000602335,;RP11-983P16.4,upstream_gene_variant,,ENST00000546793,;RP11-983P16.4,upstream_gene_variant,,ENST00000550601,;RP11-983P16.4,upstream_gene_variant,,ENST00000551890,;TENC1,non_coding_transcript_exon_variant,,ENST00000549311,;TENC1,upstream_gene_variant,,ENST00000552168,;TENC1,downstream_gene_variant,,ENST00000549498,;TENC1,upstream_gene_variant,,ENST00000546772,;TENC1,upstream_gene_variant,,ENST00000550660,;TENC1,downstream_gene_variant,,ENST00000551693,;TENC1,upstream_gene_variant,,ENST00000547223,;TENC1,downstream_gene_variant,,ENST00000552403,;TENC1,downstream_gene_variant,,ENST00000551302,;TENC1,upstream_gene_variant,,ENST00000546759,;TENC1,upstream_gene_variant,,ENST00000551583,;TENC1,upstream_gene_variant,,ENST00000549789,;							MODERATE	821/4230	T274K	TENC1_HUMAN			Transcript		benign(0.06)	.	ENSP00000319684		CCDS8843.1			1	
CHRM2	0	LGGM	GRCh37	7	136700303	136700303	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	39	3	.	.	ENST00000445907.2:c.691G>T	p.Val231Phe	p.V231F	ENST00000445907	NM_001006627.1	231	Gtt/Ttt	0	1		UPI0000050410	0	getma.org/pdb.php?prot=ACM2_HUMAN&from=40&to=440&var=V231F	ENST00000320658		ENSG00000181072	1951		42	1.59		HGNC	p.V231F		CHRM2		SNV			1				ENST00000402486	protein_coding	getma.org/?cm=var&var=hg19,7,136700303,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF57,Pfam_domain:PF00001,Prints_domain:PR00539		V/F		T	low	984/1694		getma.org/?cm=msa&ty=f&p=ACM2_HUMAN&rb=40&re=440&var=V231F	tolerated(0.09)	Q96RH0_HUMAN,Q86SJ1_HUMAN,Q6SL56_HUMAN,A4D1Q0_HUMAN				CHRM2,missense_variant,p.Val231Phe,ENST00000445907,NM_001006627.1,NM_001006629.1;CHRM2,missense_variant,p.Val231Phe,ENST00000401861,NM_001006626.1;CHRM2,missense_variant,p.Val231Phe,ENST00000397608,NM_000739.2,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Val231Phe,ENST00000402486,NM_001006631.1,NM_001006628.1,NM_001006630.1;CHRM2,missense_variant,p.Val231Phe,ENST00000453373,;CHRM2,missense_variant,p.Val231Phe,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,;							MODERATE	691/1401	V231F	ACM2_HUMAN			Transcript		benign(0.347)	.	ENSP00000319984		CCDS5843.1			1	
LIPT1	0	LGGM	GRCh37	2	99779080	99779080	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	36	3	.	.	ENST00000393477.3:c.660C>A	p.Pro220=	p.P220=	ENST00000393477	NM_145197.2	220	ccC/ccA	0	1		UPI000003B004	0		ENST00000393471		ENSG00000144182	29569		39			HGNC	p.P220P		LIPT1		SNV			1				ENST00000393471	protein_coding			hmmpanther:PTHR12561,hmmpanther:PTHR12561:SF2,TIGRFAM_domain:TIGR00545,Gene3D:3.90.1550.10,Superfamily_domains:SSF55681		P		A		758/1289				C9JW10_HUMAN,C9JUU5_HUMAN,C9J7C5_HUMAN,C9J6A9_HUMAN				LIPT1,synonymous_variant,p.=,ENST00000393477,NM_145197.2;LIPT1,synonymous_variant,p.=,ENST00000393474,NM_145198.2;LIPT1,synonymous_variant,p.=,ENST00000393473,NM_015929.3,NM_001204830.1;LIPT1,synonymous_variant,p.=,ENST00000340066,;LIPT1,synonymous_variant,p.=,ENST00000393471,NM_145199.2;LIPT1,synonymous_variant,p.=,ENST00000434566,;MITD1,intron_variant,,ENST00000422537,;MRPL30,intron_variant,,ENST00000410042,;LIPT1,downstream_gene_variant,,ENST00000415142,;LIPT1,downstream_gene_variant,,ENST00000436234,;LIPT1,downstream_gene_variant,,ENST00000449211,;MITD1,intron_variant,,ENST00000487588,;C2orf15,intron_variant,,ENST00000424491,;							LOW	660/1122		LIPT_HUMAN			Transcript			.	ENSP00000377114		CCDS2039.1			1	
BACH2	0	LGGM	GRCh37	6	90718557	90718557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	24	3	.	.	ENST00000257749.4:c.7G>T	p.Val3Leu	p.V3L	ENST00000257749	NM_021813.2	3	Gtg/Ttg	0	1	1	UPI000004F8AD	0	getma.org/pdb.php?prot=BACH2_HUMAN&from=1&to=26&var=V3L	ENST00000257749		ENSG00000112182	14078		27	0.505		HGNC	p.V3L		BACH2		SNV							ENST00000343122	protein_coding	getma.org/?cm=var&var=hg19,6,90718557,C,A&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF62		V/L		A	neutral	715/9113		getma.org/?cm=msa&ty=f&p=BACH2_HUMAN&rb=1&re=56&var=V3L	tolerated(0.72)	S0BE05_HUMAN,S0BDZ6_HUMAN,S0BDY5_HUMAN,Q7Z6Q0_HUMAN			YES	BACH2,missense_variant,p.Val3Leu,ENST00000257749,NM_021813.2;BACH2,missense_variant,p.Val3Leu,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Val3Leu,ENST00000343122,;BACH2,missense_variant,p.Val3Leu,ENST00000453877,;BACH2,missense_variant,p.Val3Leu,ENST00000406998,;BACH2,upstream_gene_variant,,ENST00000481150,;							MODERATE	Jul-26	V3L	BACH2_HUMAN			Transcript		possibly_damaging(0.732)	.	ENSP00000257749		CCDS5026.1			1	
ATP4B	0	LGGM	GRCh37	13	114309250	114309250	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	24	3	.	.	ENST00000335288.4:c.120C>G	p.Ile40Met	p.I40M	ENST00000335288	NM_000705.3	40	atC/atG	0	1	1	UPI00000012CE	0	getma.org/pdb.php?prot=ATP4B_HUMAN&from=1&to=286&var=I40M	ENST00000335288		ENSG00000186009	820		27	3.455		HGNC	p.I40M		ATP4B		SNV							ENST00000335288	protein_coding	getma.org/?cm=var&var=hg19,13,114309250,G,C&fts=all		Gene3D:1.20.5.170,Pfam_domain:PF00287,hmmpanther:PTHR11523,hmmpanther:PTHR11523:SF11,TIGRFAM_domain:TIGR01107		I/M		C	medium	162/1488		getma.org/?cm=msa&ty=f&p=ATP4B_HUMAN&rb=1&re=286&var=I40M	deleterious(0)				YES	ATP4B,missense_variant,p.Ile40Met,ENST00000335288,NM_000705.3;							MODERATE	120/876	I40M	ATP4B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000334216		CCDS9539.1			1	
PRDM15	0	LGGM	GRCh37	21	43259940	43259940	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	29	3	.	.	ENST00000269844.3:c.1761A>G	p.Glu587=	p.E587=	ENST00000269844	NM_022115.3	587	gaA/gaG	0	1	1	UPI0000456FFA	0		ENST00000269844		ENSG00000141956	13999		32			HGNC	p.E587E		PRDM15		SNV							ENST00000433067	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24387:SF6,hmmpanther:PTHR24387		E		C		1872/4710							YES	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,upstream_gene_variant,,ENST00000491486,;PRDM15,upstream_gene_variant,,ENST00000496124,;PRDM15,synonymous_variant,p.=,ENST00000449395,;PRDM15,synonymous_variant,p.=,ENST00000441787,;PRDM15,synonymous_variant,p.=,ENST00000433067,;PRDM15,synonymous_variant,p.=,ENST00000447016,;PRDM15,upstream_gene_variant,,ENST00000489661,;							LOW	1761/4524		PRD15_HUMAN			Transcript			.	ENSP00000269844		CCDS13676.1			1	
JAK1	0	LGGM	GRCh37	1	65312387	65312387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	10	3	.	.	ENST00000342505.4:c.1932G>T	p.Gln644His	p.Q644H	ENST00000342505	NM_002227.2	644	caG/caT	0	1	1	UPI0000054C7D	0	getma.org/pdb.php?prot=JAK1_HUMAN&from=583&to=845&var=Q644H	ENST00000342505		ENSG00000162434	6190		13	2.425		HGNC	p.Q644H	COSM41775	JAK1		SNV						1	ENST00000342505	protein_coding	getma.org/?cm=var&var=hg19,1,65312387,C,A&fts=all		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		Q/H		A	medium	2181/5047		getma.org/?cm=msa&ty=f&p=JAK1_HUMAN&rb=583&re=845&var=Q644H	deleterious(0.04)				YES	JAK1,missense_variant,p.Gln644His,ENST00000342505,NM_002227.2;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,non_coding_transcript_exon_variant,,ENST00000471473,;					1		MODERATE	1932/3465	Q644H	JAK1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343204		CCDS41346.1			1	
DPP7	0	LGGM	GRCh37	9	140006443	140006445	+	inframe_deletion	In_Frame_Del	DEL	ATT	ATT	-	novel	by Submitter	H080939	H080939N.bam	ATT	ATT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	7	3	.	.	ENST00000371579.2:c.1087_1089del	p.Asn363del	p.N363del	ENST00000371579	NM_013379.2	363	AAT/-	0	1	1	UPI00001AF169	0		ENST00000371579		ENSG00000176978	14892		10			HGNC	p.363_363del	rs758658327	DPP7		deletion							ENST00000371579	protein_coding			hmmpanther:PTHR11010:SF29,hmmpanther:PTHR11010,Pfam_domain:PF05577,Superfamily_domains:SSF53474		N/-		-		1092-1094/1590							YES	DPP7,inframe_deletion,p.Asn363del,ENST00000371579,NM_013379.2;DPP7,inframe_deletion,p.Asn115del,ENST00000463619,;MAN1B1,downstream_gene_variant,,ENST00000371589,NM_016219.4;MAN1B1,downstream_gene_variant,,ENST00000474902,;MAN1B1,downstream_gene_variant,,ENST00000535144,;MAN1B1,downstream_gene_variant,,ENST00000475449,;DPP7,downstream_gene_variant,,ENST00000497375,;MAN1B1,downstream_gene_variant,,ENST00000550113,;DPP7,downstream_gene_variant,,ENST00000473703,;MAN1B1,downstream_gene_variant,,ENST00000540391,;DPP7,3_prime_UTR_variant,,ENST00000473532,;DPP7,non_coding_transcript_exon_variant,,ENST00000483783,;DPP7,intron_variant,,ENST00000470766,;MAN1B1,downstream_gene_variant,,ENST00000536349,;MAN1B1,downstream_gene_variant,,ENST00000535028,;MAN1B1,downstream_gene_variant,,ENST00000480100,;MAN1B1,downstream_gene_variant,,ENST00000544448,;DPP7,downstream_gene_variant,,ENST00000485456,;DPP7,downstream_gene_variant,,ENST00000478597,;DPP7,downstream_gene_variant,,ENST00000472306,;DPP7,downstream_gene_variant,,ENST00000460830,;DPP7,downstream_gene_variant,,ENST00000491807,;MAN1B1,downstream_gene_variant,,ENST00000536268,;DPP7,downstream_gene_variant,,ENST00000482088,;	0.00104						MODERATE	1087-1089/1479		DPP2_HUMAN			Transcript			common_variant	ENSP00000360635	7.41E-05	CCDS7030.1			1	
RGSL1	0	LGGM	GRCh37	1	182441685	182441685	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	43	3	.	.	ENST00000294854.8:c.456G>A	p.Met152Ile	p.M152I	ENST00000294854	NM_001137669.1	152	atG/atA	0	1	1	UPI000156571A	0	NA	ENST00000294854		ENSG00000121446	18636		46	0.805		HGNC	p.M152I		RGSL1		SNV							ENST00000416676	protein_coding	getma.org/?cm=var&var=hg19,1,182441685,G,A&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF137		M/I		A	low	476/3696		getma.org/?cm=msa&ty=f&p=RGSL_HUMAN&rb=1&re=200&var=M152I	deleterious(0.04)	H3BNQ0_HUMAN			YES	RGSL1,missense_variant,p.Met152Ile,ENST00000294854,NM_001137669.1;RGSL1,missense_variant,p.Met187Ile,ENST00000542961,;RGSL1,downstream_gene_variant,,ENST00000437548,;RGSL1,downstream_gene_variant,,ENST00000447374,;RGSL1,downstream_gene_variant,,ENST00000426890,;RGSL1,missense_variant,p.Met187Ile,ENST00000443996,;RGSL1,missense_variant,p.Met152Ile,ENST00000416676,;RGSL1,non_coding_transcript_exon_variant,,ENST00000367561,;RGSL1,non_coding_transcript_exon_variant,,ENST00000444367,;RGSL1,intron_variant,,ENST00000422241,;RGSL1,upstream_gene_variant,,ENST00000415960,;							MODERATE	456/3231	M152I	RGSL_HUMAN			Transcript		benign(0.071)	.	ENSP00000457748		CCDS58049.1			1	
JAK1	0	LGGM	GRCh37	1	65312386	65312386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	10	3	.	.	ENST00000342505.4:c.1933G>T	p.Val645Phe	p.V645F	ENST00000342505	NM_002227.2	645	Gtc/Ttc	0	1	1	UPI0000054C7D	0	getma.org/pdb.php?prot=JAK1_HUMAN&from=583&to=845&var=V645F	ENST00000342505		ENSG00000162434	6190		13	1.52		HGNC	p.V645F	COSM41776	JAK1		SNV						1	ENST00000342505	protein_coding	getma.org/?cm=var&var=hg19,1,65312386,C,A&fts=all		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		V/F		A	low	2182/5047		getma.org/?cm=msa&ty=f&p=JAK1_HUMAN&rb=583&re=845&var=V645F	deleterious(0.01)				YES	JAK1,missense_variant,p.Val645Phe,ENST00000342505,NM_002227.2;JAK1,non_coding_transcript_exon_variant,,ENST00000465376,;JAK1,non_coding_transcript_exon_variant,,ENST00000471473,;					1		MODERATE	1933/3465	V645F	JAK1_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000343204		CCDS41346.1			1	
ZNF488	0	LGGM	GRCh37	10	48370662	48370662	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	19	3	.	.	ENST00000395702.2:c.130G>A	p.Gly44Ser	p.G44S	ENST00000395702		44	Ggc/Agc	0	1	1	UPI00000736CF	0	NA	ENST00000395702		ENSG00000165388	23535		22	1.06		HGNC	p.G44S		ZNF488		SNV							ENST00000436850	protein_coding	getma.org/?cm=var&var=hg19,10,48370662,G,A&fts=all		hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF1		G/S		A	low	357/3561		getma.org/?cm=msa&ty=f&p=ZN488_HUMAN&rb=1&re=200&var=G44S	tolerated(0.53)	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN			YES	ZNF488,missense_variant,p.Gly44Ser,ENST00000395702,;ZNF488,missense_variant,p.Gly44Ser,ENST00000494156,NM_153034.2;ZNF488,missense_variant,p.Gly44Ser,ENST00000425196,;ZNF488,missense_variant,p.Gly44Ser,ENST00000444585,;ZNF488,missense_variant,p.Gly44Ser,ENST00000412534,;ZNF488,missense_variant,p.Gly44Ser,ENST00000433077,;ZNF488,missense_variant,p.Gly44Ser,ENST00000436850,;ZNF488,missense_variant,p.Gly44Ser,ENST00000442001,;ZNF488,5_prime_UTR_variant,,ENST00000586537,;							MODERATE	130/1023	G44S	ZN488_HUMAN			Transcript		benign(0.13)	.	ENSP00000379054		CCDS7217.1			1	
ZNF831	0	LGGM	GRCh37	20	57769030	57769030	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	18	4	.	.	ENST00000371030.2:c.2956A>G	p.Thr986Ala	p.T986A	ENST00000371030	NM_178457.2	986	Acc/Gcc	0	1	1	UPI00001D82E4	0	NA	ENST00000371030		ENSG00000124203	16167		22	-0.345		HGNC	p.T986A		ZNF831		SNV							ENST00000371030	protein_coding	getma.org/?cm=var&var=hg19,20,57769030,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		T/A		G	neutral	2956/9404		getma.org/?cm=msa&ty=f&p=ZN831_HUMAN&rb=929&re=1344&var=T986A	tolerated(0.65)				YES	ZNF831,missense_variant,p.Thr986Ala,ENST00000371030,NM_178457.2;							MODERATE	2956/5034	T986A	ZN831_HUMAN			Transcript		benign(0.01)	.	ENSP00000360069		CCDS42894.1			1	
LRRC28	0	LGGM	GRCh37	15	99796155	99796155	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	38	4	.	.	ENST00000301981.3:c.-8A>T		*3*	ENST00000301981	NM_144598.2			0	1	1	UPI000000DBCB	0		ENST00000301981		ENSG00000168904	28355		42			HGNC	p.I4F		LRRC28		SNV							ENST00000561276	protein_coding							T		233/5971				Q8NB41_HUMAN,H0YNW4_HUMAN,H0YKF6_HUMAN,B4DK22_HUMAN			YES	LRRC28,missense_variant,p.Ile4Phe,ENST00000561276,;LRRC28,5_prime_UTR_variant,,ENST00000301981,NM_144598.2;LRRC28,5_prime_UTR_variant,,ENST00000422500,;LRRC28,5_prime_UTR_variant,,ENST00000447360,NM_001284400.1;LRRC28,5_prime_UTR_variant,,ENST00000442993,;LRRC28,5_prime_UTR_variant,,ENST00000331450,;LRRC28,5_prime_UTR_variant,,ENST00000558861,;LRRC28,5_prime_UTR_variant,,ENST00000558172,;LRRC28,5_prime_UTR_variant,,ENST00000558879,;TTC23,upstream_gene_variant,,ENST00000394129,;TTC23,upstream_gene_variant,,ENST00000394135,;TTC23,upstream_gene_variant,,ENST00000558663,;TTC23,upstream_gene_variant,,ENST00000560279,;TTC23,upstream_gene_variant,,ENST00000561365,;AC022819.1,upstream_gene_variant,,ENST00000581052,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559399,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558500,;LRRC28,5_prime_UTR_variant,,ENST00000559433,;LRRC28,5_prime_UTR_variant,,ENST00000558471,;LRRC28,5_prime_UTR_variant,,ENST00000561253,;LRRC28,non_coding_transcript_exon_variant,,ENST00000560213,;HSP90B2P,upstream_gene_variant,,ENST00000559111,;							MODIFIER	-/1104		LRC28_HUMAN			Transcript			.	ENSP00000304923		CCDS10380.1			1	
ZSWIM6	0	LGGM	GRCh37	5	60817168	60817168	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	24	4	.	.	ENST00000252744.5:c.1412A>T	p.Lys471Ile	p.K471I	ENST00000252744	NM_020928.1	471	aAa/aTa	0	1	1	UPI0001837EA2	0	NA	ENST00000252744		ENSG00000130449	29316		28	1.895		HGNC	p.K471I		ZSWIM6		SNV			1				ENST00000252744	protein_coding	getma.org/?cm=var&var=hg19,5,60817168,A,T&fts=all		hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF3		K/I		T	low	1412/5501		getma.org/?cm=msa&ty=f&p=ZSWM6_HUMAN&rb=400&re=530&var=K471I	deleterious(0)				YES	ZSWIM6,missense_variant,p.Lys471Ile,ENST00000252744,NM_020928.1;							MODERATE	1412/3648	K471I	ZSWM6_HUMAN			Transcript		possibly_damaging(0.8)	.	ENSP00000252744		CCDS47215.1			1	
FN1	0	LGGM	GRCh37	2	216263992	216263992	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	34	4	.	.	ENST00000354785.4:c.3336A>G	p.Arg1112=	p.R1112=	ENST00000354785		1112	agA/agG	0	1		UPI00001AEBF3	0		ENST00000359671		ENSG00000115414	3778		38			HGNC	p.R1112R		FN1		SNV			1				ENST00000446046	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,SMART_domains:SM00060,Superfamily_domains:SSF49265		R		C		3602/8524				Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,synonymous_variant,p.=,ENST00000354785,;FN1,synonymous_variant,p.=,ENST00000323926,NM_212482.1;FN1,synonymous_variant,p.=,ENST00000359671,;FN1,synonymous_variant,p.=,ENST00000336916,NM_212478.1,NM_002026.2;FN1,synonymous_variant,p.=,ENST00000421182,;FN1,synonymous_variant,p.=,ENST00000357009,;FN1,synonymous_variant,p.=,ENST00000346544,;FN1,synonymous_variant,p.=,ENST00000446046,;FN1,synonymous_variant,p.=,ENST00000345488,;FN1,synonymous_variant,p.=,ENST00000357867,NM_212474.1;FN1,synonymous_variant,p.=,ENST00000356005,NM_212476.1;FN1,synonymous_variant,p.=,ENST00000443816,;FN1,synonymous_variant,p.=,ENST00000432072,;							LOW	3336/7161		FINC_HUMAN			Transcript			.	ENSP00000352696					1	
LRRC28	0	LGGM	GRCh37	15	99796154	99796154	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	37	4	.	.	ENST00000301981.3:c.-9T>A		*3*	ENST00000301981	NM_144598.2			0	1	1	UPI000000DBCB	0		ENST00000301981		ENSG00000168904	28355		41			HGNC	p.Y3X		LRRC28		SNV							ENST00000561276	protein_coding							A		232/5971				Q8NB41_HUMAN,H0YNW4_HUMAN,H0YKF6_HUMAN,B4DK22_HUMAN			YES	LRRC28,stop_gained,p.Tyr3Ter,ENST00000561276,;LRRC28,5_prime_UTR_variant,,ENST00000301981,NM_144598.2;LRRC28,5_prime_UTR_variant,,ENST00000422500,;LRRC28,5_prime_UTR_variant,,ENST00000447360,NM_001284400.1;LRRC28,5_prime_UTR_variant,,ENST00000442993,;LRRC28,5_prime_UTR_variant,,ENST00000331450,;LRRC28,5_prime_UTR_variant,,ENST00000558861,;LRRC28,5_prime_UTR_variant,,ENST00000558172,;LRRC28,5_prime_UTR_variant,,ENST00000558879,;TTC23,upstream_gene_variant,,ENST00000394129,;TTC23,upstream_gene_variant,,ENST00000394135,;TTC23,upstream_gene_variant,,ENST00000558663,;TTC23,upstream_gene_variant,,ENST00000560279,;TTC23,upstream_gene_variant,,ENST00000561365,;AC022819.1,upstream_gene_variant,,ENST00000581052,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559399,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558500,;LRRC28,5_prime_UTR_variant,,ENST00000559433,;LRRC28,5_prime_UTR_variant,,ENST00000558471,;LRRC28,5_prime_UTR_variant,,ENST00000561253,;LRRC28,non_coding_transcript_exon_variant,,ENST00000560213,;HSP90B2P,upstream_gene_variant,,ENST00000559111,;							MODIFIER	-/1104		LRC28_HUMAN			Transcript			.	ENSP00000304923		CCDS10380.1			1	
MYB	0	LGGM	GRCh37	6	135520098	135520098	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	47	4	.	.	ENST00000341911.5:c.1619T>A	p.Leu540Ter	p.L540*	ENST00000341911	NM_001130173.1	540	tTa/tAa	0	1		UPI000012FAEA	0	NA	ENST00000367814		ENSG00000118513	7545		51	0		HGNC	p.L419X		MYB		SNV			1				ENST00000527615	protein_coding	getma.org/?cm=var&var=hg19,6,135520098,T,A&fts=all		hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF454,Pfam_domain:PF09316		L/*		A	NA	1442/3302		NA		Q9UMI7_HUMAN,Q708J0_HUMAN,Q708E9_HUMAN,Q708E3_HUMAN				MYB,stop_gained,p.Leu540Ter,ENST00000341911,NM_001130173.1,NM_001161658.1,NM_001161656.1;MYB,stop_gained,p.Leu419Ter,ENST00000316528,;MYB,stop_gained,p.Leu416Ter,ENST00000442647,NM_001161660.1,NM_001130172.1;MYB,stop_gained,p.Leu419Ter,ENST00000367814,NM_001161659.1,NM_005375.2;MYB,stop_gained,p.Leu334Ter,ENST00000525369,NM_001161657.1;MYB,stop_gained,p.Leu419Ter,ENST00000527615,;MYB,stop_gained,p.Leu537Ter,ENST00000528774,;MYB,stop_gained,p.Leu524Ter,ENST00000534121,;MYB,stop_gained,p.Leu384Ter,ENST00000533624,;MYB,stop_gained,p.Leu419Ter,ENST00000534044,;MYB,downstream_gene_variant,,ENST00000420123,;MYB,downstream_gene_variant,,ENST00000430686,;MYB-AS1,upstream_gene_variant,,ENST00000455534,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,upstream_gene_variant,,ENST00000529297,;MYB,stop_gained,p.Leu419Ter,ENST00000367812,;MYB,stop_gained,p.Leu524Ter,ENST00000438901,;MYB,stop_gained,p.Leu419Ter,ENST00000339290,;MYB,stop_gained,p.Leu416Ter,ENST00000526889,;MYB,stop_gained,p.Leu334Ter,ENST00000531519,;MYB,stop_gained,p.Leu419Ter,ENST00000525002,;MYB,stop_gained,p.Leu419Ter,ENST00000528343,;MYB,3_prime_UTR_variant,,ENST00000533837,;MYB,3_prime_UTR_variant,,ENST00000525477,;MYB,3_prime_UTR_variant,,ENST00000463282,;MYB,3_prime_UTR_variant,,ENST00000533808,;MYB,3_prime_UTR_variant,,ENST00000525514,;MYB,3_prime_UTR_variant,,ENST00000529586,;MYB,3_prime_UTR_variant,,ENST00000526320,;MYB,3_prime_UTR_variant,,ENST00000533384,;MYB,3_prime_UTR_variant,,ENST00000531737,;MYB,3_prime_UTR_variant,,ENST00000529262,;MYB,3_prime_UTR_variant,,ENST00000526565,;MYB,3_prime_UTR_variant,,ENST00000528015,;MYB,3_prime_UTR_variant,,ENST00000526187,;MYB,3_prime_UTR_variant,,ENST00000528140,;MYB,3_prime_UTR_variant,,ENST00000528345,;MYB,3_prime_UTR_variant,,ENST00000525940,;MYB,3_prime_UTR_variant,,ENST00000531634,;MYB,3_prime_UTR_variant,,ENST00000524588,;MYB,downstream_gene_variant,,ENST00000534736,;							HIGH	1256/1923	L419*	MYB_HUMAN			Transcript			.	ENSP00000356788		CCDS5174.1			1	
MECOM	0	LGGM	GRCh37	3	168819950	168819950	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	33	4	.	.	ENST00000264674.3:c.2300G>A	p.Ser767Asn	p.S767N	ENST00000264674	NM_001105077.3	767	aGt/aAt	0	1		UPI000013D551	0	NA	ENST00000468789		ENSG00000085276	3498		37	-0.755		HGNC	p.S767N		MECOM		SNV			1				ENST00000264674	protein_coding	getma.org/?cm=var&var=hg19,3,168819950,C,T&fts=all		hmmpanther:PTHR24393		S/N		T	neutral	2493/3691		getma.org/?cm=msa&ty=f&p=EVI1_HUMAN&rb=640&re=732&var=S702N	tolerated(0.29)	Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,missense_variant,p.Ser693Asn,ENST00000464456,NM_001164000.1;MECOM,missense_variant,p.Ser767Asn,ENST00000264674,NM_001105077.3;MECOM,missense_variant,p.Ser702Asn,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,missense_variant,p.Ser881Asn,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Ser702Asn,ENST00000468789,NM_001105078.3;MECOM,missense_variant,p.Ser703Asn,ENST00000472280,;MECOM,missense_variant,p.Ser703Asn,ENST00000433243,;MECOM,missense_variant,p.Ser693Asn,ENST00000460814,;							MODERATE	2105/3156	S702N	EVI1_HUMAN			Transcript		benign(0.001)	.	ENSP00000419995		CCDS3205.1			1	
TLR5	0	LGGM	GRCh37	1	223285783	223285783	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	55	4	.	.	ENST00000540964.1:c.591G>T	p.Thr197=	p.T197=	ENST00000540964		197	acG/acT	0	1		UPI0000205D14	0		ENST00000366881		ENSG00000187554	11851		59			HGNC	p.T197T		TLR5		SNV			1				ENST00000342210	protein_coding			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF221		T		A		1232/3368				B1AZ06_HUMAN				TLR5,synonymous_variant,p.=,ENST00000540964,;TLR5,synonymous_variant,p.=,ENST00000366881,NM_003268.5;TLR5,synonymous_variant,p.=,ENST00000342210,;TLR5,downstream_gene_variant,,ENST00000407096,;							LOW	591/2577		TLR5_HUMAN			Transcript			.	ENSP00000355846		CCDS31033.1			1	
SPG20	0	LGGM	GRCh37	13	36905714	36905714	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	34	4	.	.	ENST00000451493.1:c.830C>G	p.Pro277Arg	p.P277R	ENST00000451493	NM_001142295.1	277	cCt/cGt	0	1		UPI000006F5EE	0	NA	ENST00000355182		ENSG00000133104	18514		38	1.545		HGNC	p.P277R		SPG20		SNV			1				ENST00000423217	protein_coding	getma.org/?cm=var&var=hg19,13,36905714,G,C&fts=all		hmmpanther:PTHR21068,hmmpanther:PTHR21068:SF20		P/R		C	low	924/4820		getma.org/?cm=msa&ty=f&p=SPG20_HUMAN&rb=96&re=295&var=P277R	deleterious(0)					SPG20,missense_variant,p.Pro277Arg,ENST00000451493,NM_001142295.1;SPG20,missense_variant,p.Pro277Arg,ENST00000355182,NM_001142294.1;SPG20,missense_variant,p.Pro277Arg,ENST00000438666,NM_015087.4;SPG20,missense_variant,p.Pro277Arg,ENST00000494062,NM_001142296.1;SPG20,non_coding_transcript_exon_variant,,ENST00000495510,;SPG20,downstream_gene_variant,,ENST00000494703,;SPG20,upstream_gene_variant,,ENST00000475603,;SPG20,downstream_gene_variant,,ENST00000476377,;							MODERATE	830/2001	P277R	SPG20_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000347314		CCDS9356.1			1	
PI16	0	LGGM	GRCh37	6	36931122	36931122	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	4	.	.	ENST00000373674.3:c.1004A>G	p.Asn335Ser	p.N335S	ENST00000373674	NM_153370.2	335	aAc/aGc	0	1	1	UPI000004C657	0	NA	ENST00000373674		ENSG00000164530	21245		46	-0.895		HGNC	p.N335S		PI16		SNV							ENST00000373674	protein_coding	getma.org/?cm=var&var=hg19,6,36931122,A,G&fts=all				N/S		G	neutral	1332/2190		getma.org/?cm=msa&ty=f&p=PI16_HUMAN&rb=291&re=461&var=N335S	tolerated(1)	B4DXZ3_HUMAN			YES	PI16,missense_variant,p.Asn335Ser,ENST00000373674,NM_153370.2,NM_001199159.1;MTCH1,downstream_gene_variant,,ENST00000373627,NM_001271641.1;MTCH1,downstream_gene_variant,,ENST00000373616,NM_014341.2;PI16,intron_variant,,ENST00000491324,;							MODERATE	1004/1392	N335S	PI16_HUMAN			Transcript		benign(0.001)	.	ENSP00000362778		CCDS34440.1			1	
KCNV2	0	LGGM	GRCh37	9	2719065	2719065	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	17	4	.	.	ENST00000382082.3:c.1326T>C	p.Thr442=	p.T442=	ENST00000382082	NM_133497.3	442	acT/acC	0	1	1	UPI0000048D8E	0		ENST00000382082		ENSG00000168263	19698		21			HGNC	p.T442T		KCNV2		SNV			1				ENST00000382082	protein_coding			Prints_domain:PR00169,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF40		T		C		1564/2186							YES	KCNV2,synonymous_variant,p.=,ENST00000382082,NM_133497.3;KIAA0020,downstream_gene_variant,,ENST00000490444,;							LOW	1326/1638		KCNV2_HUMAN			Transcript			.	ENSP00000371514		CCDS6447.1			1	
THUMPD3	0	LGGM	GRCh37	3	9416230	9416230	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	78	4	.	.	ENST00000345094.3:c.838A>G	p.Ile280Val	p.I280V	ENST00000345094	NM_001114092.1	280	Att/Gtt	0	1	1	UPI000006E64E	0	NA	ENST00000345094		ENSG00000134077	24493		82	-0.62		HGNC	p.I280V		THUMPD3		SNV							ENST00000452837	protein_coding	getma.org/?cm=var&var=hg19,3,9416230,A,G&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF02926,PROSITE_profiles:PS51165,hmmpanther:PTHR14911,hmmpanther:PTHR14911:SF12,SMART_domains:SM00981,Superfamily_domains:SSF143437,Superfamily_domains:SSF53335		I/V		G	neutral	1172/3961		getma.org/?cm=msa&ty=f&p=THUM3_HUMAN&rb=197&re=285&var=I280V	tolerated(1)	C9JP31_HUMAN,C9J9V2_HUMAN			YES	THUMPD3,missense_variant,p.Ile280Val,ENST00000345094,NM_001114092.1,NM_015453.2;THUMPD3,missense_variant,p.Ile280Val,ENST00000452837,;THUMPD3,missense_variant,p.Ile280Val,ENST00000515662,;THUMPD3,missense_variant,p.Ile113Val,ENST00000416603,;THUMPD3,missense_variant,p.Ile137Val,ENST00000441127,;THUMPD3,downstream_gene_variant,,ENST00000419437,;SETD5-AS1,intron_variant,,ENST00000468186,;THUMPD3,non_coding_transcript_exon_variant,,ENST00000461636,;							MODERATE	838/1524	I280V	THUM3_HUMAN			Transcript		benign(0.002)	.	ENSP00000339532		CCDS2573.1			1	
FN1	0	LGGM	GRCh37	2	216263989	216263989	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	34	4	.	.	ENST00000354785.4:c.3339T>C	p.Ile1113=	p.I1113=	ENST00000354785		1113	atT/atC	0	1		UPI00001AEBF3	0		ENST00000359671		ENSG00000115414	3778		38			HGNC	p.I1113I		FN1		SNV			1				ENST00000446046	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,SMART_domains:SM00060,Superfamily_domains:SSF49265		I		G		3605/8524				Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,synonymous_variant,p.=,ENST00000354785,;FN1,synonymous_variant,p.=,ENST00000323926,NM_212482.1;FN1,synonymous_variant,p.=,ENST00000359671,;FN1,synonymous_variant,p.=,ENST00000336916,NM_212478.1,NM_002026.2;FN1,synonymous_variant,p.=,ENST00000421182,;FN1,synonymous_variant,p.=,ENST00000357009,;FN1,synonymous_variant,p.=,ENST00000346544,;FN1,synonymous_variant,p.=,ENST00000446046,;FN1,synonymous_variant,p.=,ENST00000345488,;FN1,synonymous_variant,p.=,ENST00000357867,NM_212474.1;FN1,synonymous_variant,p.=,ENST00000356005,NM_212476.1;FN1,synonymous_variant,p.=,ENST00000443816,;FN1,synonymous_variant,p.=,ENST00000432072,;							LOW	3339/7161		FINC_HUMAN			Transcript			.	ENSP00000352696					1	
IVNS1ABP	0	LGGM	GRCh37	1	185276241	185276241	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	5	.	.	ENST00000367498.3:c.562T>A	p.Leu188Met	p.L188M	ENST00000367498	NM_006469.4	188	Ttg/Atg	0	1	1	UPI0000036B84	0	NA	ENST00000367498		ENSG00000116679	16951		47	1.61		HGNC	p.L188M		IVNS1ABP		SNV							ENST00000367498	protein_coding	getma.org/?cm=var&var=hg19,1,185276241,A,T&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF7,SMART_domains:SM00875		L/M		T	low	1185/4199		getma.org/?cm=msa&ty=f&p=NS1BP_HUMAN&rb=134&re=229&var=L188M	tolerated(0.09)	B3KSM1_HUMAN			YES	IVNS1ABP,missense_variant,p.Leu188Met,ENST00000367498,NM_006469.4;IVNS1ABP,missense_variant,p.Leu69Met,ENST00000422754,;IVNS1ABP,5_prime_UTR_variant,,ENST00000392007,;IVNS1ABP,downstream_gene_variant,,ENST00000367497,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000459929,;IVNS1ABP,upstream_gene_variant,,ENST00000480769,;							MODERATE	562/1929	L188M	NS1BP_HUMAN			Transcript		benign(0.289)	.	ENSP00000356468		CCDS1368.1			1	
ARHGAP21	0	LGGM	GRCh37	10	24896735	24896735	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	41	5	.	.	ENST00000396432.2:c.2520A>G	p.Thr840=	p.T840=	ENST00000396432	NM_020824.3	840	acA/acG	0	1	1	UPI0001639C78	0		ENST00000396432		ENSG00000107863	23725		46			HGNC	p.T627T		ARHGAP21		SNV							ENST00000320481	protein_coding			hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175		T		C		3007/7167				E7ESW5_HUMAN			YES	ARHGAP21,synonymous_variant,p.=,ENST00000396432,NM_020824.3;ARHGAP21,synonymous_variant,p.=,ENST00000320481,;ARHGAP21,synonymous_variant,p.=,ENST00000446003,;ARHGAP21,synonymous_variant,p.=,ENST00000376410,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000493154,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000476067,;							LOW	2520/5877		RHG21_HUMAN			Transcript			.	ENSP00000379709		CCDS7144.2			1	
ANKRD28	0	LGGM	GRCh37	3	15749513	15749513	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	30	5	.	.	ENST00000399451.2:c.1375G>T	p.Gly459Ter	p.G459*	ENST00000399451	NM_015199.3	459	Gga/Tga	0	1	1	UPI00004120FF	0	NA	ENST00000399451		ENSG00000206560	29024		35	0		HGNC	p.G403X		ANKRD28		SNV							ENST00000451422	protein_coding	getma.org/?cm=var&var=hg19,3,15749513,C,A&fts=all		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		G/*		A	NA	1743/6564		NA					YES	ANKRD28,stop_gained,p.Gly459Ter,ENST00000399451,NM_015199.3,NM_001195098.1,NM_001195099.1;ANKRD28,stop_gained,p.Gly492Ter,ENST00000383777,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,downstream_gene_variant,,ENST00000492895,;ANKRD28,stop_gained,p.Gly459Ter,ENST00000412318,;ANKRD28,stop_gained,p.Gly403Ter,ENST00000451422,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000498524,;							HIGH	1375/3162	G459*	ANR28_HUMAN			Transcript			.	ENSP00000382379		CCDS46769.1			1	
UBE2Q1	0	LGGM	GRCh37	1	154525626	154525626	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	37	5	.	.	ENST00000292211.4:c.611A>G	p.Tyr204Cys	p.Y204C	ENST00000292211	NM_017582.6	204	tAt/tGt	0	1	1	UPI00001A36E2	0	NA	ENST00000292211		ENSG00000160714	15698		42	1.78		HGNC	p.Y204C		UBE2Q1		SNV							ENST00000292211	protein_coding	getma.org/?cm=var&var=hg19,1,154525626,T,C&fts=all		hmmpanther:PTHR24068:SF46,hmmpanther:PTHR24068		Y/C		C	low	691/3210		getma.org/?cm=msa&ty=f&p=UB2Q1_HUMAN&rb=201&re=309&var=Y204C	deleterious(0.03)	Q29SN7_HUMAN			YES	UBE2Q1,missense_variant,p.Tyr204Cys,ENST00000292211,NM_017582.6;UBE2Q1-AS1,upstream_gene_variant,,ENST00000441613,;UBE2Q1,non_coding_transcript_exon_variant,,ENST00000497453,;UBE2Q1,upstream_gene_variant,,ENST00000483639,;UBE2Q1,upstream_gene_variant,,ENST00000474181,;UBE2Q1,upstream_gene_variant,,ENST00000467683,;UBE2Q1,upstream_gene_variant,,ENST00000476612,;UBE2Q1,upstream_gene_variant,,ENST00000491572,;							MODERATE	611/1269	Y204C	UB2Q1_HUMAN			Transcript		benign(0.052)	.	ENSP00000292211		CCDS1069.1			1	
KIR2DL1	0	LGGM	GRCh37	19	55286687	55286687	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	140	5	.	.	ENST00000336077.6:c.441G>C	p.Leu147Phe	p.L147F	ENST00000336077	NM_014218.2	147	ttG/ttC	0	1	1	UPI00001195F7	0	getma.org/pdb.php?prot=KI2S1_HUMAN&from=142&to=200&var=L147F	ENST00000336077		ENSG00000125498	6329		145	2.855		HGNC	p.L147F		KIR2DL1		SNV							ENST00000291633	protein_coding	getma.org/?cm=var&var=hg19,19,55286687,G,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00047,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/F		C	medium	481/1596		getma.org/?cm=msa&ty=f&p=KI2S1_HUMAN&rb=142&re=200&var=L147F	deleterious(0.03)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN			YES	KIR2DL1,missense_variant,p.Leu147Phe,ENST00000336077,NM_014218.2;KIR2DL1,missense_variant,p.Leu147Phe,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,;							MODERATE	441/1047	L147F	KI2L1_HUMAN			Transcript		benign(0.411)	.	ENSP00000336769		CCDS12904.1			1	
CTH	0	LGGM	GRCh37	1	70896016	70896016	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	25	5	.	.	ENST00000370938.3:c.663A>G	p.Val221=	p.V221=	ENST00000370938	NM_001902.5	221	gtA/gtG	0	1	1	UPI00001275DE	0		ENST00000370938		ENSG00000116761	2501		30			HGNC	p.V177V		CTH		SNV			1				ENST00000346806	protein_coding			Gene3D:3.40.640.10,Pfam_domain:PF01053,PIRSF_domain:PIRSF001434,hmmpanther:PTHR11808,hmmpanther:PTHR11808:SF15,Superfamily_domains:SSF53383		V		G		807/1805							YES	CTH,synonymous_variant,p.=,ENST00000411986,NM_001190463.1;CTH,synonymous_variant,p.=,ENST00000370938,NM_001902.5;CTH,synonymous_variant,p.=,ENST00000346806,NM_153742.4;CTH,non_coding_transcript_exon_variant,,ENST00000464926,;CTH,upstream_gene_variant,,ENST00000482383,;							LOW	663/1218		CGL_HUMAN			Transcript			.	ENSP00000359976		CCDS650.1			1	
PRICKLE2	0	LGGM	GRCh37	3	64085193	64085193	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	24	5	.	.	ENST00000295902.6:c.2069C>T	p.Ser690Phe	p.S690F	ENST00000295902	NM_198859.3	690	tCc/tTc	0	1	1	UPI0000160A8B	0	NA	ENST00000295902		ENSG00000163637	20340		29	2.08		HGNC	p.S690F		PRICKLE2		SNV			1				ENST00000295902	protein_coding	getma.org/?cm=var&var=hg19,3,64085193,G,A&fts=all		hmmpanther:PTHR24218,hmmpanther:PTHR24218:SF5,Low_complexity_(Seg):seg		S/F		A	medium	2655/8305		getma.org/?cm=msa&ty=f&p=PRIC2_HUMAN&rb=321&re=842&var=S690F	deleterious(0)	C9JY03_HUMAN			YES	PRICKLE2,missense_variant,p.Ser690Phe,ENST00000295902,NM_198859.3;PRICKLE2,missense_variant,p.Ser746Phe,ENST00000564377,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS1,non_coding_transcript_exon_variant,,ENST00000476308,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;							MODERATE	2069/2535	S690F	PRIC2_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000295902		CCDS2902.1			1	
NETO1	0	LGGM	GRCh37	18	70417399	70417399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	26	5	.	.	ENST00000327305.6:c.1439A>G	p.His480Arg	p.H480R	ENST00000327305	NM_138966.3	480	cAc/cGc	0	1	1	UPI000013E59E	0	NA	ENST00000327305		ENSG00000166342	13823		31	1.78		HGNC	p.H480R		NETO1		SNV							ENST00000583169	protein_coding	getma.org/?cm=var&var=hg19,18,70417399,T,C&fts=all		hmmpanther:PTHR10127:SF315,hmmpanther:PTHR10127		H/R		C	low	2097/3058		getma.org/?cm=msa&ty=f&p=NETO1_HUMAN&rb=327&re=526&var=H480R	tolerated_low_confidence(0.15)				YES	NETO1,missense_variant,p.His480Arg,ENST00000327305,NM_138966.3;NETO1,missense_variant,p.His480Arg,ENST00000583169,NM_001201465.1;NETO1,missense_variant,p.His479Arg,ENST00000299430,;NETO1,upstream_gene_variant,,ENST00000582281,;RNA5SP460,upstream_gene_variant,,ENST00000516789,;RP11-713C5.1,upstream_gene_variant,,ENST00000584727,;							MODERATE	1439/1602	H480R	NETO1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000313088		CCDS12000.1			1	
UNK	0	LGGM	GRCh37	17	73820434	73820434	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	11	5	.	.	ENST00000589666.1:c.2369T>G	p.Leu790Arg	p.L790R	ENST00000589666	NM_001080419.2	790	cTc/cGc	0	1	1	UPI00001C1FC3	0	NA	ENST00000589666		ENSG00000132478	29369		16	1.1		HGNC	p.L790R		UNK		SNV							ENST00000589666	protein_coding	getma.org/?cm=var&var=hg19,17,73820434,T,G&fts=all		hmmpanther:PTHR14493,hmmpanther:PTHR14493:SF36		L/R		G	low	2479/3925		getma.org/?cm=msa&ty=f&p=UNK_HUMAN&rb=731&re=810&var=L790R	tolerated(0.54)				YES	UNK,missense_variant,p.Leu866Arg,ENST00000293218,;UNK,missense_variant,p.Leu790Arg,ENST00000589666,NM_001080419.2;UNC13D,downstream_gene_variant,,ENST00000207549,NM_199242.2;UNC13D,downstream_gene_variant,,ENST00000412096,;UNC13D,downstream_gene_variant,,ENST00000589670,;UNK,downstream_gene_variant,,ENST00000587258,;RP11-552F3.4,upstream_gene_variant,,ENST00000586808,;UNC13D,downstream_gene_variant,,ENST00000586519,;							MODERATE	2369/2433	L790R	UNK_HUMAN			Transcript		benign(0.262)	.	ENSP00000464893		CCDS45778.2			1	
SYNCRIP	0	LGGM	GRCh37	6	86351107	86351107	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	33	5	.	.	ENST00000369622.3:c.51T>C	p.Thr17=	p.T17=	ENST00000369622	NM_001159675.1	17	acT/acC	0	1	1	UPI000013CF84	0		ENST00000369622		ENSG00000135316	16918		38			HGNC	p.T17T	rs771123926	SYNCRIP		SNV							ENST00000369622	protein_coding					T		G		552/3023	1.50E-05			F6UXX1_HUMAN			YES	SYNCRIP,synonymous_variant,p.=,ENST00000355238,NM_001159677.1,NM_001253771.1,NM_001159676.1,NM_001159673.1,NM_001159674.1;SYNCRIP,synonymous_variant,p.=,ENST00000369622,NM_001159675.1,NM_006372.4;SYNCRIP,synonymous_variant,p.=,ENST00000444272,;							LOW	51/1872		HNRPQ_HUMAN			Transcript			.	ENSP00000358635	8.24E-06	CCDS5005.1			1	
RAPGEF4	0	LGGM	GRCh37	2	173861275	173861275	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	55	5	.	.	ENST00000397081.3:c.1572A>G	p.Glu524=	p.E524=	ENST00000397081	NM_007023.3	524	gaA/gaG	0	1	1	UPI000006D4C7	0		ENST00000397081		ENSG00000091428	16626		60			HGNC	p.E380E		RAPGEF4		SNV							ENST00000397087	protein_coding			PROSITE_profiles:PS50212,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF175,Gene3D:2ii0A01,Pfam_domain:PF00618,SMART_domains:SM00229,Superfamily_domains:0041591		E		G		1715/4299				Q53TH3_HUMAN,Q53QY2_HUMAN,B7Z283_HUMAN,B7Z278_HUMAN			YES	RAPGEF4,synonymous_variant,p.=,ENST00000264111,;RAPGEF4,synonymous_variant,p.=,ENST00000397081,NM_007023.3;RAPGEF4,synonymous_variant,p.=,ENST00000397087,NM_001100397.1,NM_001282899.1,NM_001282901.1;RAPGEF4,synonymous_variant,p.=,ENST00000409036,;RAPGEF4,synonymous_variant,p.=,ENST00000540783,;RAPGEF4,synonymous_variant,p.=,ENST00000539331,;RAPGEF4,synonymous_variant,p.=,ENST00000538974,NM_001282900.1;RAPGEF4,synonymous_variant,p.=,ENST00000535187,;							LOW	1572/3036		RPGF4_HUMAN			Transcript			.	ENSP00000380271		CCDS42775.1			1	
SIAH1	0	LGGM	GRCh37	16	48395970	48395970	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	27	5	.	.	ENST00000356721.3:c.463A>C	p.Arg155=	p.R155=	ENST00000356721	NM_001006610.1	155	Agg/Cgg	0	1		UPI0000073CF6	0		ENST00000380006		ENSG00000196470	10857		32			HGNC	p.R124R	COSM148072	SIAH1		SNV						1	ENST00000380006	protein_coding			PROSITE_profiles:PS51081,hmmpanther:PTHR10315,hmmpanther:PTHR10315:SF23,Gene3D:1k2fA02,Pfam_domain:PF03145,Superfamily_domains:SSF49599		R		G		1824/3352				H3BU09_HUMAN				SIAH1,synonymous_variant,p.=,ENST00000380006,;SIAH1,synonymous_variant,p.=,ENST00000356721,NM_001006610.1;SIAH1,synonymous_variant,p.=,ENST00000394725,NM_003031.3;LONP2,3_prime_UTR_variant,,ENST00000565867,;LONP2,downstream_gene_variant,,ENST00000285737,NM_031490.2;SIAH1,downstream_gene_variant,,ENST00000563745,;LONP2,downstream_gene_variant,,ENST00000564259,;SIAH1,downstream_gene_variant,,ENST00000573005,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,synonymous_variant,p.=,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,downstream_gene_variant,,ENST00000565185,;					1		LOW	370/849		SIAH1_HUMAN			Transcript			.	ENSP00000369343		CCDS10735.1			1	
BRPF1	0	LGGM	GRCh37	3	9780762	9780762	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	15	5	.	.	ENST00000383829.2:c.679A>G	p.Ile227Val	p.I227V	ENST00000383829	NM_001003694.1	227	Atc/Gtc	0	1		UPI000013E784	0	NA	ENST00000457855		ENSG00000156983	14255		20	2.015		HGNC	p.I227V		BRPF1		SNV							ENST00000457855	protein_coding	getma.org/?cm=var&var=hg19,3,9780762,A,G&fts=all		hmmpanther:PTHR13793:SF85,hmmpanther:PTHR13793,Pfam_domain:PF10513		I/V		G	medium	690/4308		getma.org/?cm=msa&ty=f&p=BRPF1_HUMAN&rb=105&re=255&var=I227V	tolerated(0.11)	C9JHC0_HUMAN,C9JDK5_HUMAN				BRPF1,missense_variant,p.Ile227Val,ENST00000383829,NM_001003694.1;BRPF1,missense_variant,p.Ile227Val,ENST00000424362,;BRPF1,missense_variant,p.Ile227Val,ENST00000302054,NM_004634.2;BRPF1,missense_variant,p.Ile227Val,ENST00000457855,;BRPF1,missense_variant,p.Ile227Val,ENST00000433861,;BRPF1,downstream_gene_variant,,ENST00000420291,;BRPF1,downstream_gene_variant,,ENST00000426583,;BRPF1,upstream_gene_variant,,ENST00000469066,;							MODERATE	679/3645	I227V	BRPF1_HUMAN			Transcript		benign(0.237)	.	ENSP00000410210		CCDS2575.1			1	
MUC16	0	LGGM	GRCh37	19	9049917	9049917	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	137	5	.	.	ENST00000397910.4:c.31714G>C	p.Val10572Leu	p.V10572L	ENST00000397910	NM_024690.2	10572	Gtc/Ctc	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		142	1.59		HGNC	p.V10572L		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9049917,C,G&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		V/L		G	low	31918/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=10464&re=10663&var=V10574L		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Val10572Leu,ENST00000397910,NM_024690.2;							MODERATE	31714/43524	V10574L				Transcript		benign(0.007)	.	ENSP00000381008		CCDS54212.1			1	
DLAT	0	LGGM	GRCh37	11	111908038	111908038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	5	.	.	ENST00000280346.6:c.829G>A	p.Val277Ile	p.V277I	ENST00000280346	NM_001931.4	277	Gtc/Atc	0	1	1	UPI000000D963	0	getma.org/pdb.php?prot=ODP2_HUMAN&from=219&to=293&var=V277I	ENST00000280346		ENSG00000150768	2896		47	1		HGNC	p.V277I		DLAT		SNV			1				ENST00000280346	protein_coding	getma.org/?cm=var&var=hg19,11,111908038,G,A&fts=all		PROSITE_profiles:PS50968,hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF9,Pfam_domain:PF00364,TIGRFAM_domain:TIGR01349,Gene3D:2.40.50.100,Superfamily_domains:SSF51230		V/I		A	low	1488/4458		getma.org/?cm=msa&ty=f&p=ODP2_HUMAN&rb=219&re=293&var=V277I	tolerated(0.56)	Q86YI5_HUMAN			YES	DLAT,missense_variant,p.Val277Ile,ENST00000280346,NM_001931.4;DLAT,missense_variant,p.Val109Ile,ENST00000531306,;DLAT,missense_variant,p.Val48Ile,ENST00000537636,;DLAT,intron_variant,,ENST00000393051,;RNU6-893P,upstream_gene_variant,,ENST00000458841,;DLAT,3_prime_UTR_variant,,ENST00000533297,;RP11-708L7.9,upstream_gene_variant,,ENST00000604143,;							MODERATE	829/1944	V277I	ODP2_HUMAN			Transcript		benign(0.005)	.	ENSP00000280346		CCDS8354.1			1	
TRIP11	0	LGGM	GRCh37	14	92470901	92470901	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	26	5	.	.	ENST00000267622.4:c.3419A>G	p.Asn1140Ser	p.N1140S	ENST00000267622	NM_004239.3	1140	aAt/aGt	0	1	1	UPI000013D767	0	NA	ENST00000267622		ENSG00000100815	12305		31	1.04		HGNC	p.N1140S		TRIP11		SNV			1				ENST00000267622	protein_coding	getma.org/?cm=var&var=hg19,14,92470901,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18921,hmmpanther:PTHR18921:SF2		N/S		C	low	3793/9996		getma.org/?cm=msa&ty=f&p=TRIPB_HUMAN&rb=981&re=1323&var=N1140S	deleterious(0.03)	G3V4R7_HUMAN			YES	TRIP11,missense_variant,p.Asn1140Ser,ENST00000267622,NM_004239.3;TRIP11,missense_variant,p.Asn856Ser,ENST00000554357,;							MODERATE	3419/5940	N1140S	TRIPB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000267622		CCDS9899.1			1	
E2F7	0	LGGM	GRCh37	12	77419336	77419336	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	51	6	.	.	ENST00000322886.7:c.2565+2T>C		p.X855_splice	ENST00000322886	NM_203394.2			0	1	1	UPI00001B64A1	0		ENST00000322886		ENSG00000165891	23820		57			HGNC	-		E2F7		SNV							ENST00000322886	protein_coding							G		-/5740				F8VXV5_HUMAN,F8VSE7_HUMAN			YES	E2F7,splice_donor_variant,,ENST00000322886,NM_203394.2;E2F7,intron_variant,,ENST00000416496,;E2F7,downstream_gene_variant,,ENST00000550669,;							HIGH	2565/2736		E2F7_HUMAN			Transcript			.	ENSP00000323246		CCDS9016.1			1	
ADAM18	0	LGGM	GRCh37	8	39535054	39535054	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	16	6	.	.	ENST00000265707.5:c.1630A>T	p.Lys544Ter	p.K544*	ENST00000265707	NM_014237.2	544	Aag/Tag	0	1	1	UPI00001254D7	0	NA	ENST00000265707		ENSG00000168619	196		22	0		HGNC	p.K520X		ADAM18		SNV							ENST00000379866	protein_coding	getma.org/?cm=var&var=hg19,8,39535054,A,T&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF28,Pfam_domain:PF08516,SMART_domains:SM00608		K/*		T	NA	1675/2388		NA		Q0VAI3_HUMAN,E5RK96_HUMAN			YES	ADAM18,stop_gained,p.Lys544Ter,ENST00000265707,NM_014237.2;ADAM18,stop_gained,p.Lys520Ter,ENST00000379866,;ADAM18,splice_region_variant,,ENST00000541111,;ADAM18,splice_region_variant,,ENST00000520087,;							HIGH	1630/2220	K544*	ADA18_HUMAN			Transcript			.	ENSP00000265707		CCDS6113.1			1	
E2F7	0	LGGM	GRCh37	12	77419345	77419345	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	52	6	.	.	ENST00000322886.7:c.2558T>C	p.Leu853Ser	p.L853S	ENST00000322886	NM_203394.2	853	tTa/tCa	0	1	1	UPI00001B64A1	0	NA	ENST00000322886		ENSG00000165891	23820		58	0.895		HGNC	p.L853S		E2F7		SNV							ENST00000322886	protein_coding	getma.org/?cm=var&var=hg19,12,77419345,A,G&fts=all		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF25		L/S		G	low	2794/5740		getma.org/?cm=msa&ty=f&p=E2F7_HUMAN&rb=768&re=911&var=L853S	deleterious(0.03)	F8VXV5_HUMAN,F8VSE7_HUMAN			YES	E2F7,missense_variant,p.Leu853Ser,ENST00000322886,NM_203394.2;E2F7,intron_variant,,ENST00000416496,;E2F7,downstream_gene_variant,,ENST00000550669,;							MODERATE	2558/2736	L853S	E2F7_HUMAN			Transcript		benign(0.043)	.	ENSP00000323246		CCDS9016.1			1	
IVNS1ABP	0	LGGM	GRCh37	1	185276244	185276244	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	6	.	.	ENST00000367498.3:c.559T>C	p.Cys187Arg	p.C187R	ENST00000367498	NM_006469.4	187	Tgc/Cgc	0	1	1	UPI0000036B84	0	NA	ENST00000367498		ENSG00000116679	16951		48	0		HGNC	p.C187R		IVNS1ABP		SNV							ENST00000367498	protein_coding	getma.org/?cm=var&var=hg19,1,185276244,A,G&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF7,SMART_domains:SM00875		C/R		G	neutral	1182/4199		getma.org/?cm=msa&ty=f&p=NS1BP_HUMAN&rb=134&re=229&var=C187R	tolerated(0.44)	B3KSM1_HUMAN			YES	IVNS1ABP,missense_variant,p.Cys187Arg,ENST00000367498,NM_006469.4;IVNS1ABP,missense_variant,p.Cys68Arg,ENST00000422754,;IVNS1ABP,5_prime_UTR_variant,,ENST00000392007,;IVNS1ABP,downstream_gene_variant,,ENST00000367497,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000459929,;IVNS1ABP,upstream_gene_variant,,ENST00000480769,;							MODERATE	559/1929	C187R	NS1BP_HUMAN			Transcript		benign(0.068)	.	ENSP00000356468		CCDS1368.1			1	
ZP4	0	LGGM	GRCh37	1	238053877	238053877	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	32	6	.	.	ENST00000366570.4:c.59A>T	p.Gln20Leu	p.Q20L	ENST00000366570	NM_021186.3	20	cAg/cTg	0	1	1	UPI000006F0E4	0	NA	ENST00000366570		ENSG00000116996	15770		38	1.725		HGNC	p.Q20L		ZP4		SNV							ENST00000366570	protein_coding	getma.org/?cm=var&var=hg19,1,238053877,T,A&fts=all		hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF31		Q/L		A	low	218/1799		getma.org/?cm=msa&ty=f&p=ZP4_HUMAN&rb=1&re=141&var=Q20L	tolerated(0.31)				YES	ZP4,missense_variant,p.Gln20Leu,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;							MODERATE	59/1623	Q20L	ZP4_HUMAN			Transcript		possibly_damaging(0.575)	.	ENSP00000355529		CCDS1615.1			1	
BCAT1	0	LGGM	GRCh37	12	25034235	25034235	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	61	6	.	.	ENST00000539282.1:c.426G>T	p.Pro142=	p.P142=	ENST00000539282	NM_001178093.1	142	ccG/ccT	0	1		UPI0000213DBE	0		ENST00000261192		ENSG00000060982	976		67			HGNC	p.P142P		BCAT1		SNV							ENST00000539282	protein_coding			Gene3D:3.30.470.10,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF29,Superfamily_domains:SSF56752,TIGRFAM_domain:TIGR01123		P		A		917/8335								BCAT1,splice_region_variant,p.=,ENST00000261192,NM_005504.6,NM_001178091.1;BCAT1,splice_region_variant,p.=,ENST00000538118,NM_001178094.1;BCAT1,splice_region_variant,p.=,ENST00000539282,NM_001178093.1;BCAT1,splice_region_variant,p.=,ENST00000546285,;BCAT1,intron_variant,,ENST00000342945,NM_001178092.1;BCAT1,intron_variant,,ENST00000539780,;BCAT1,splice_region_variant,,ENST00000544418,;							LOW	390/1161		BCAT1_HUMAN			Transcript			.	ENSP00000261192		CCDS44845.1			1	
ZNF680	0	LGGM	GRCh37	7	63982281	63982281	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	41	6	.	.	ENST00000309683.6:c.851A>G	p.His284Arg	p.H284R	ENST00000309683	NM_178558.4	284	cAt/cGt	0	1	1	UPI000019980A	0	getma.org/pdb.php?prot=ZN680_HUMAN&from=281&to=305&var=H284R	ENST00000309683		ENSG00000173041	26897		47	3.815		HGNC	p.H284R		ZNF680		SNV							ENST00000309683	protein_coding	getma.org/?cm=var&var=hg19,7,63982281,T,C&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117,PROSITE_profiles:PS50157		H/R		C	high	1003/3022		getma.org/?cm=msa&ty=f&p=ZN680_HUMAN&rb=261&re=325&var=H284R	deleterious(0.02)				YES	ZNF680,missense_variant,p.His284Arg,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,;							MODERATE	851/1593	H284R	ZN680_HUMAN			Transcript		possibly_damaging(0.465)	.	ENSP00000309330		CCDS34644.1			1	
PLXNA4	0	LGGM	GRCh37	7	131864480	131864480	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	20	6	.	.	ENST00000359827.3:c.3840C>A	p.Asn1280Lys	p.N1280K	ENST00000359827		1280	aaC/aaA	0	1		UPI000004E55B	0	getma.org/pdb.php?prot=PLXA4_HUMAN&from=1228&to=1309&var=N1280K	ENST00000321063		ENSG00000221866	9102		26	2.67		HGNC	p.N1280K		PLXNA4		SNV							ENST00000359827	protein_coding	getma.org/?cm=var&var=hg19,7,131864480,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625		N/K		T	medium	4069/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=1228&re=1309&var=N1280K	tolerated(0.07)					PLXNA4,missense_variant,p.Asn1280Lys,ENST00000359827,;PLXNA4,missense_variant,p.Asn1280Lys,ENST00000321063,NM_020911.1;							MODERATE	3840/5685	N1280K	PLXA4_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000323194		CCDS43646.1			1	
USP45	0	LGGM	GRCh37	6	99891507	99891507	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	24	6	.	.	ENST00000327681.6:c.2007C>A	p.Ala669=	p.A669=	ENST00000327681	NM_001080481.1	669	gcC/gcA	0	1	1	UPI0000253B80	0		ENST00000327681		ENSG00000123552	20080		30			HGNC	p.A669A		USP45		SNV							ENST00000500704	protein_coding			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF346,Superfamily_domains:SSF54001		A		T		2540/6255				F5H1L5_HUMAN,D6RE98_HUMAN			YES	USP45,synonymous_variant,p.=,ENST00000327681,NM_001080481.1;USP45,synonymous_variant,p.=,ENST00000392738,;USP45,synonymous_variant,p.=,ENST00000500704,;USP45,synonymous_variant,p.=,ENST00000369233,;USP45,5_prime_UTR_variant,,ENST00000539675,;USP45,3_prime_UTR_variant,,ENST00000496518,;USP45,downstream_gene_variant,,ENST00000513344,;							LOW	2007/2445		UBP45_HUMAN			Transcript			.	ENSP00000333376		CCDS34501.1			1	
UBE4A	0	LGGM	GRCh37	11	118245661	118245661	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	44	7	.	.	ENST00000431736.2:c.1188C>G	p.Leu396=	p.L396=	ENST00000431736		396	ctC/ctG	0	1		UPI00001FA485	0		ENST00000252108		ENSG00000110344	12499		51			HGNC	p.L389L		UBE4A		SNV							ENST00000252108	protein_coding			hmmpanther:PTHR13931:SF2,hmmpanther:PTHR13931,Pfam_domain:PF10408		L		G		1298/6103				B7Z7P0_HUMAN				UBE4A,synonymous_variant,p.=,ENST00000252108,NM_001204077.1,NM_004788.3;UBE4A,synonymous_variant,p.=,ENST00000431736,;UBE4A,upstream_gene_variant,,ENST00000545354,;							LOW	1167/3201		UBE4A_HUMAN			Transcript			.	ENSP00000252108		CCDS55790.1			1	
ZNF257	0	LGGM	GRCh37	19	22271071	22271071	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	55	7	.	.	ENST00000594947.1:c.519C>T	p.Cys173=	p.C173=	ENST00000594947	NM_033468.2	173	tgC/tgT	0	1	1	UPI0000E045CA	0		ENST00000594947		ENSG00000197134	13498		62			HGNC	p.C173C		ZNF257		SNV							ENST00000594947	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C		T		663/3874				M0R0N1_HUMAN			YES	ZNF257,synonymous_variant,p.=,ENST00000594947,NM_033468.2;ZNF257,synonymous_variant,p.=,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000600162,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;							LOW	519/1692		ZN257_HUMAN			Transcript			.	ENSP00000470209		CCDS46030.1			1	
MTMR9	0	LGGM	GRCh37	8	11152804	11152804	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	80	7	.	.	ENST00000221086.3:c.284C>T	p.Ser95Phe	p.S95F	ENST00000221086	NM_015458.3	95	tCc/tTc	0	1	1	UPI0000073CA7	0	getma.org/pdb.php?prot=MTMR9_HUMAN&from=1&to=151&var=S95F	ENST00000221086		ENSG00000104643	14596		87	3.045		HGNC	p.S95F		MTMR9		SNV							ENST00000221086	protein_coding	getma.org/?cm=var&var=hg19,8,11152804,C,T&fts=all		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF56,Superfamily_domains:SSF50729		S/F		T	medium	757/7472		getma.org/?cm=msa&ty=f&p=MTMR9_HUMAN&rb=1&re=151&var=S95F	deleterious(0)	Q9Y4N6_HUMAN,B7Z291_HUMAN			YES	MTMR9,missense_variant,p.Ser95Phe,ENST00000221086,NM_015458.3;MTMR9,missense_variant,p.Ser10Phe,ENST00000526292,;MTMR9,missense_variant,p.Ser95Phe,ENST00000530200,;MTMR9,non_coding_transcript_exon_variant,,ENST00000528389,;							MODERATE	284/1650	S95F	MTMR9_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000221086		CCDS5979.1			1	
SAMD3	0	LGGM	GRCh37	6	130536436	130536436	+	5_prime_UTR_variant	5'UTR	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	31	7	.	.	ENST00000368134.2:c.-18T>C		*6*	ENST00000368134	NM_001258275.1			0	1	1	UPI000006DCE7	0		ENST00000368134		ENSG00000164483	21574		38			HGNC	p.Y19H		SAMD3		SNV							ENST00000457563	protein_coding							G		592/2377				E9PS85_HUMAN			YES	SAMD3,missense_variant,p.Tyr19His,ENST00000457563,NM_001277185.1;SAMD3,5_prime_UTR_variant,,ENST00000532763,;SAMD3,5_prime_UTR_variant,,ENST00000368134,NM_001258275.1;SAMD3,5_prime_UTR_variant,,ENST00000439090,NM_001017373.3;SAMD3,5_prime_UTR_variant,,ENST00000437477,;SAMD3,5_prime_UTR_variant,,ENST00000532309,;SAMD3,5_prime_UTR_variant,,ENST00000531544,;SAMD3,5_prime_UTR_variant,,ENST00000529723,;SAMD3,upstream_gene_variant,,ENST00000324172,;SAMD3,non_coding_transcript_exon_variant,,ENST00000533296,;SAMD3,upstream_gene_variant,,ENST00000524930,;							MODIFIER	-/1563		SAMD3_HUMAN			Transcript			.	ENSP00000357116		CCDS34539.1			1	
ADAMTS19	0	LGGM	GRCh37	5	128984491	128984491	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	41	7	.	.	ENST00000274487.4:c.1986G>T	p.Gly662=	p.G662=	ENST00000274487	NM_133638.3	662	ggG/ggT	0	1	1	UPI000013DA0D	0		ENST00000274487		ENSG00000145808	17111		48			HGNC	p.G662G		ADAMTS19		SNV							ENST00000274487	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		G		T		2131/5234							YES	ADAMTS19,splice_region_variant,p.=,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;							LOW	1986/3624		ATS19_HUMAN			Transcript			.	ENSP00000274487		CCDS4146.1			1	
ZNF586	0	LGGM	GRCh37	19	58290931	58290931	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	39	7	.	.	ENST00000396154.2:c.976T>G	p.Phe326Val	p.F326V	ENST00000396154	NM_017652.3	326	Ttt/Gtt	0	1	1	UPI0000202D48	0	getma.org/pdb.php?prot=ZN586_HUMAN&from=301&to=330&var=F326V	ENST00000396154		ENSG00000083828	25949		46	3.6		HGNC	p.F283V		ZNF586		SNV							ENST00000391702	protein_coding	getma.org/?cm=var&var=hg19,19,58290931,T,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF34,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/V		G	high	1149/2163		getma.org/?cm=msa&ty=f&p=ZN586_HUMAN&rb=301&re=330&var=F326V	deleterious(0)				YES	ZNF586,missense_variant,p.Phe283Val,ENST00000391702,NM_001204814.1;ZNF586,missense_variant,p.Phe326Val,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,;							MODERATE	976/1209	F326V	ZN586_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000379458		CCDS42640.1			1	
ZNF460	0	LGGM	GRCh37	19	57802347	57802347	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	75	7	.	.	ENST00000360338.3:c.438A>G	p.Pro146=	p.P146=	ENST00000360338	NM_006635.3	146	ccA/ccG	0	1	1	UPI0000202D11	0		ENST00000360338		ENSG00000197714	21628		82			HGNC	p.P146P		ZNF460		SNV							ENST00000360338	protein_coding			hmmpanther:PTHR24384:SF15,hmmpanther:PTHR24384		P		G		760/3350				M0R0J6_HUMAN,B4DNX9_HUMAN			YES	ZNF460,synonymous_variant,p.=,ENST00000360338,NM_006635.3;ZNF460,synonymous_variant,p.=,ENST00000537645,;ZNF460,synonymous_variant,p.=,ENST00000599602,;							LOW	438/1689		ZN460_HUMAN			Transcript			.	ENSP00000353491		CCDS12949.1			1	
CHSY1	0	LGGM	GRCh37	15	101718497	101718497	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	28	7	.	.	ENST00000254190.3:c.1505G>A	p.Gly502Glu	p.G502E	ENST00000254190	NM_014918.4	502	gGa/gAa	0	1	1	UPI000000DB6C	0	NA	ENST00000254190		ENSG00000131873	17198		35	0.895		HGNC	p.G502E		CHSY1		SNV			1				ENST00000254190	protein_coding	getma.org/?cm=var&var=hg19,15,101718497,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF16,Pfam_domain:PF05679,Superfamily_domains:SSF53448		G/E		T	low	1981/4550		getma.org/?cm=msa&ty=f&p=CHSS1_HUMAN&rb=238&re=777&var=G502E	tolerated(1)				YES	CHSY1,missense_variant,p.Gly502Glu,ENST00000254190,NM_014918.4;CHSY1,non_coding_transcript_exon_variant,,ENST00000543813,;CHSY1,downstream_gene_variant,,ENST00000561414,;CHSY1,downstream_gene_variant,,ENST00000560766,;							MODERATE	1505/2409	G502E	CHSS1_HUMAN			Transcript		benign(0.403)	.	ENSP00000254190		CCDS10390.1			1	
BPTF	0	LGGM	GRCh37	17	65942427	65942427	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	50	7	.	.	ENST00000306378.6:c.7603A>G	p.Ile2535Val	p.I2535V	ENST00000306378	NM_182641.3	2535	Atc/Gtc	0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		57	1.935		HGNC	p.I2535V		BPTF		SNV							ENST00000306378	protein_coding	getma.org/?cm=var&var=hg19,17,65942427,A,G&fts=all		hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		I/V		G	medium	8042/11292		getma.org/?cm=msa&ty=f&p=B4DJV8_HUMAN&rb=19&re=478&var=I339V						BPTF,missense_variant,p.Ile2661Val,ENST00000321892,;BPTF,missense_variant,p.Ile2535Val,ENST00000306378,NM_182641.3;BPTF,intron_variant,,ENST00000335221,NM_004459.6;BPTF,intron_variant,,ENST00000424123,;BPTF,intron_variant,,ENST00000342579,;BPTF,intron_variant,,ENST00000580465,;BPTF,downstream_gene_variant,,ENST00000544778,;BPTF,upstream_gene_variant,,ENST00000581258,;RP11-855A2.3,downstream_gene_variant,,ENST00000577385,;BPTF,downstream_gene_variant,,ENST00000577770,;BPTF,downstream_gene_variant,,ENST00000582406,;BPTF,downstream_gene_variant,,ENST00000584931,;							MODERATE	7981/9141	I339V	BPTF_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000315454					1	
CLSTN2	0	LGGM	GRCh37	3	140265458	140265458	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	21	7	.	.	ENST00000458420.3:c.1609T>C	p.Cys537Arg	p.C537R	ENST00000458420	NM_022131.2	537	Tgc/Cgc	0	1	1	UPI00001B0051	0	NA	ENST00000458420		ENSG00000158258	17448		28	2.69		HGNC	p.C537R		CLSTN2		SNV							ENST00000458420	protein_coding	getma.org/?cm=var&var=hg19,3,140265458,T,C&fts=all		hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF3,Superfamily_domains:SSF49899		C/R		C	medium	1799/14202		getma.org/?cm=msa&ty=f&p=CSTN2_HUMAN&rb=533&re=732&var=C537R	deleterious(0)	B3KUA5_HUMAN,B3KU27_HUMAN			YES	CLSTN2,missense_variant,p.Cys537Arg,ENST00000458420,NM_022131.2;CLSTN2,non_coding_transcript_exon_variant,,ENST00000511524,;							MODERATE	1609/2868	C537R	CSTN2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000402460		CCDS3112.1			1	
SH2D3C	0	LGGM	GRCh37	9	130504084	130504084	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	23	7	.	.	ENST00000314830.8:c.2071G>A	p.Ala691Thr	p.A691T	ENST00000314830	NM_170600.2	691	Gcc/Acc	0	1	1	UPI000006EC87	0	getma.org/pdb.php?prot=SH2D3_HUMAN&from=583&to=732&var=A691T	ENST00000314830		ENSG00000095370	16884		30	2.305		HGNC	p.A531T		SH2D3C		SNV							ENST00000373274	protein_coding	getma.org/?cm=var&var=hg19,9,130504084,C,T&fts=all		Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR14247:SF6,hmmpanther:PTHR14247,PROSITE_profiles:PS50009		A/T		T	medium	2185/3124		getma.org/?cm=msa&ty=f&p=SH2D3_HUMAN&rb=583&re=732&var=A691T	deleterious(0.01)	B3KUE2_HUMAN			YES	SH2D3C,missense_variant,p.Ala691Thr,ENST00000314830,NM_170600.2;SH2D3C,missense_variant,p.Ala623Thr,ENST00000373276,NM_001252334.1;SH2D3C,missense_variant,p.Ala337Thr,ENST00000429553,NM_001142531.1,NM_001142532.1;SH2D3C,missense_variant,p.Ala534Thr,ENST00000373277,NM_005489.3;SH2D3C,missense_variant,p.Ala533Thr,ENST00000420366,NM_001142533.1;SH2D3C,missense_variant,p.Ala531Thr,ENST00000373274,NM_001142534.1;SH2D3C,downstream_gene_variant,,ENST00000440630,;SH2D3C,downstream_gene_variant,,ENST00000471939,;SH2D3C,downstream_gene_variant,,ENST00000464239,;SH2D3C,downstream_gene_variant,,ENST00000468969,;SH2D3C,downstream_gene_variant,,ENST00000484160,;							MODERATE	2071/2583	A691T	SH2D3_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000317817		CCDS6877.1			1	
PCDHA6	0	LGGM	GRCh37	5	140209444	140209444	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	44	7	.	.	ENST00000529310.1:c.1768G>T	p.Val590Leu	p.V590L	ENST00000529310	NM_018909.2	590	Gtg/Ttg	0	1	1	UPI00001273CE	0	getma.org/pdb.php?prot=PCDA6_HUMAN&from=579&to=670&var=V590L	ENST00000529310		ENSG00000081842	8672		51	0.76		HGNC	p.V590L		PCDHA6		SNV							ENST00000529310	protein_coding	getma.org/?cm=var&var=hg19,5,140209444,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		V/L		T	neutral	1882/5374		getma.org/?cm=msa&ty=f&p=PCDA6_HUMAN&rb=579&re=670&var=V590L	tolerated_low_confidence(0.06)				YES	PCDHA6,missense_variant,p.Val590Leu,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;							MODERATE	1768/2853	V590L	PCDA6_HUMAN			Transcript		benign(0.193)	.	ENSP00000433378		CCDS47281.1			1	
SPHKAP	0	LGGM	GRCh37	2	228855714	228855714	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	31	8	.	.	ENST00000392056.3:c.4959+2T>C		p.X1653_splice	ENST00000392056	NM_001142644.1			0	1	1	UPI0000411D7E	0		ENST00000392056		ENSG00000153820	30619		39			HGNC	-		SPHKAP		SNV							ENST00000392056	protein_coding							G		-/6917							YES	SPHKAP,splice_donor_variant,,ENST00000392056,NM_001142644.1;SPHKAP,splice_donor_variant,,ENST00000344657,NM_030623.3;SPHKAP,non_coding_transcript_exon_variant,,ENST00000490603,;							HIGH	4959/5103		SPKAP_HUMAN			Transcript			.	ENSP00000375909		CCDS46537.1			1	
CCT6A	0	LGGM	GRCh37	7	56128069	56128069	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	47	8	.	.	ENST00000275603.4:c.1173G>A	p.Val391=	p.V391=	ENST00000275603	NM_001762.3	391	gtG/gtA	0	1	1	UPI0000136B11	0		ENST00000275603		ENSG00000146731	1620		55			HGNC	p.V346V		CCT6A		SNV							ENST00000335503	protein_coding			Prints_domain:PR00304,Superfamily_domains:SSF54849,Gene3D:3.30.260.10,TIGRFAM_domain:TIGR02347,Pfam_domain:PF00118,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353		V		A		1392/2719							YES	CCT6A,synonymous_variant,p.=,ENST00000275603,NM_001762.3;CCT6A,synonymous_variant,p.=,ENST00000335503,NM_001009186.1;CCT6A,synonymous_variant,p.=,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,;CCT6A,non_coding_transcript_exon_variant,,ENST00000466572,;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,;SUMF2,upstream_gene_variant,,ENST00000498777,;SUMF2,upstream_gene_variant,,ENST00000529457,;CCT6A,upstream_gene_variant,,ENST00000494736,;CCT6A,downstream_gene_variant,,ENST00000493855,;							LOW	1173/1596		TCPZ_HUMAN			Transcript			.	ENSP00000275603		CCDS5523.1			1	
RIMKLB	0	LGGM	GRCh37	12	8906548	8906548	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	19	8	.	.	ENST00000357529.3:c.556C>T	p.His186Tyr	p.H186Y	ENST00000357529	NM_020734.2	186	Cat/Tat	0	1	1	UPI000013E5D1	0	getma.org/pdb.php?prot=RIMKB_HUMAN&from=112&to=303&var=H186Y	ENST00000357529		ENSG00000166532	29228		27	1.09		HGNC	p.H186Y		RIMKLB		SNV							ENST00000357529	protein_coding	getma.org/?cm=var&var=hg19,12,8906548,C,T&fts=all		PROSITE_profiles:PS50975,hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF5,Pfam_domain:PF08443,TIGRFAM_domain:TIGR00768,Gene3D:3.30.1490.20,Superfamily_domains:SSF56059		H/Y		T	low	1818/5830		getma.org/?cm=msa&ty=f&p=RIMKB_HUMAN&rb=112&re=303&var=H186Y	tolerated(0.05)	F5H3V4_HUMAN,F5GZH5_HUMAN			YES	RIMKLB,missense_variant,p.His186Tyr,ENST00000357529,NM_020734.2;RIMKLB,missense_variant,p.His186Tyr,ENST00000538135,;RIMKLB,missense_variant,p.His186Tyr,ENST00000535829,;RIMKLB,downstream_gene_variant,,ENST00000537189,;RIMKLB,downstream_gene_variant,,ENST00000541044,;RIMKLB,downstream_gene_variant,,ENST00000539923,;RIMKLB,non_coding_transcript_exon_variant,,ENST00000299673,;RIMKLB,missense_variant,p.His186Tyr,ENST00000544257,;							MODERATE	556/1161	H186Y	RIMKB_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000350136		CCDS41748.1			1	
BBX	0	LGGM	GRCh37	3	107493570	107493570	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	33	8	.	.	ENST00000325805.8:c.1920A>G	p.Lys640=	p.K640=	ENST00000325805		640	aaA/aaG	0	1	1	UPI000007315E	0		ENST00000325805		ENSG00000114439	14422		41			HGNC	p.N304S		BBX		SNV							ENST00000416476	protein_coding			hmmpanther:PTHR13059,Low_complexity_(Seg):seg		K		G		2207/3517				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			YES	BBX,missense_variant,p.Asn304Ser,ENST00000416476,NM_001276286.1;BBX,synonymous_variant,p.=,ENST00000415149,NM_020235.6,NM_001142568.2;BBX,synonymous_variant,p.=,ENST00000402543,;BBX,synonymous_variant,p.=,ENST00000406780,;BBX,synonymous_variant,p.=,ENST00000325805,;BBX,downstream_gene_variant,,ENST00000402163,;BBX,upstream_gene_variant,,ENST00000443253,;BBX,upstream_gene_variant,,ENST00000473542,;BBX,downstream_gene_variant,,ENST00000485939,;BBX,downstream_gene_variant,,ENST00000472032,;							LOW	1920/2826		BBX_HUMAN			Transcript			.	ENSP00000319974		CCDS46881.1			1	
INPP5J	0	LGGM	GRCh37	22	31522451	31522451	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	51	8	.	.	ENST00000404390.3:c.257A>T	p.Asp86Val	p.D86V	ENST00000404390	NM_001002837.1	86	gAc/gTc	0	1		UPI000004CB11	0	getma.org/pdb.php?prot=PI5PA_HUMAN&from=428&to=721&var=D454V	ENST00000331075		ENSG00000185133	8956		59	0.895		HGNC	p.D87V		INPP5J		SNV							ENST00000405300	protein_coding	getma.org/?cm=var&var=hg19,22,31522451,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11200:SF127,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219		D/V		T	low	1410/3347		getma.org/?cm=msa&ty=f&p=PI5PA_HUMAN&rb=428&re=721&var=D454V	deleterious(0.04)	C9K0M5_HUMAN,C9J0H5_HUMAN,B5MBZ3_HUMAN,B4DF95_HUMAN				INPP5J,missense_variant,p.Asp454Val,ENST00000331075,NM_001284285.1;INPP5J,missense_variant,p.Asp387Val,ENST00000412277,NM_001284286.1;INPP5J,missense_variant,p.Asp87Val,ENST00000405300,NM_001284289.1;INPP5J,missense_variant,p.Asp87Val,ENST00000400294,NM_001284288.1;INPP5J,missense_variant,p.Asp86Val,ENST00000404390,NM_001002837.1;INPP5J,missense_variant,p.Asp19Val,ENST00000420017,;INPP5J,upstream_gene_variant,,ENST00000401755,;INPP5J,upstream_gene_variant,,ENST00000404453,;INPP5J,upstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;							MODERATE	1361/3021	D454V	PI5PA_HUMAN			Transcript		possibly_damaging(0.799)	.	ENSP00000333262		CCDS63453.1			1	
FGF21	0	LGGM	GRCh37	19	49261248	49261248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	127	8	.	.	ENST00000593756.1:c.401T>C	p.Val134Ala	p.V134A	ENST00000593756		134	gTt/gCt	0	1		UPI000003BE44	0	getma.org/pdb.php?prot=FGF21_HUMAN&from=45&to=157&var=V134A	ENST00000222157		ENSG00000105550	3678		135	0.85		HGNC	p.V134A		FGF21		SNV							ENST00000222157	protein_coding	getma.org/?cm=var&var=hg19,19,49261248,T,C&fts=all		Gene3D:2.80.10.50,Pfam_domain:PF00167,PIRSF_domain:PIRSF037961,Prints_domain:PR00262,Prints_domain:PR00263,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF62,SMART_domains:SM00442,Superfamily_domains:SSF50353		V/A		C	low	551/883		getma.org/?cm=msa&ty=f&p=FGF21_HUMAN&rb=45&re=157&var=V134A	deleterious(0)					FGF21,missense_variant,p.Val134Ala,ENST00000593756,;FGF21,missense_variant,p.Val134Ala,ENST00000222157,NM_019113.2;FUT1,upstream_gene_variant,,ENST00000310160,NM_000148.3;FUT1,upstream_gene_variant,,ENST00000601931,;FUT1,upstream_gene_variant,,ENST00000601988,;FUT1,upstream_gene_variant,,ENST00000599826,;FUT1,upstream_gene_variant,,ENST00000597220,;							MODERATE	401/630	V134A	FGF21_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000222157		CCDS12734.1			1	
ZNF567	0	LGGM	GRCh37	19	37203394	37203394	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	58	9	.	.	ENST00000585696.1:c.23A>G	p.Tyr8Cys	p.Y8C	ENST00000585696		8	tAt/tGt	0	1		UPI000022A7F5	0	getma.org/pdb.php?prot=ZN567_HUMAN&from=6&to=46&var=Y39C	ENST00000536254		ENSG00000189042	28696		67	2.975		HGNC	p.Y39C		ZNF567		SNV							ENST00000536254	protein_coding	getma.org/?cm=var&var=hg19,19,37203394,A,G&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,SMART_domains:SM00349		Y/C		G	medium	338/2825		getma.org/?cm=msa&ty=f&p=ZN567_HUMAN&rb=6&re=46&var=Y39C	deleterious(0)					ZNF567,missense_variant,p.Tyr8Cys,ENST00000585696,;ZNF567,missense_variant,p.Tyr39Cys,ENST00000536254,;ZNF567,missense_variant,p.Tyr8Cys,ENST00000360729,NM_152603.2;ZNF567,missense_variant,p.Tyr8Cys,ENST00000588311,;ZNF567,missense_variant,p.Tyr8Cys,ENST00000392163,;ZNF567,missense_variant,p.Tyr18Cys,ENST00000589264,;ZNF850,downstream_gene_variant,,ENST00000589390,;ZNF567,missense_variant,p.Tyr4Cys,ENST00000591308,;ZNF567,non_coding_transcript_exon_variant,,ENST00000590392,;							MODERATE	116/1944	Y39C	ZN567_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000441838					1	
PEX13	0	LGGM	GRCh37	2	61258783	61258783	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	49	9	.	.	ENST00000295030.5:c.322C>G	p.Leu108Val	p.L108V	ENST00000295030	NM_002618.3	108	Ctc/Gtc	0	1	1	UPI0000131707	0	NA	ENST00000295030		ENSG00000162928	8855		58	0		HGNC	p.L108V		PEX13		SNV			1				ENST00000295030	protein_coding	getma.org/?cm=var&var=hg19,2,61258783,C,G&fts=all		Pfam_domain:PF04088,hmmpanther:PTHR19332		L/V		G	neutral	360/4470		getma.org/?cm=msa&ty=f&p=PEX13_HUMAN&rb=99&re=255&var=L108V	tolerated(0.18)				YES	PEX13,missense_variant,p.Leu108Val,ENST00000295030,NM_002618.3;PEX13,non_coding_transcript_exon_variant,,ENST00000472678,;							MODERATE	322/1212	L108V	PEX13_HUMAN			Transcript		benign(0.039)	.	ENSP00000295030		CCDS1866.1			1	
UBN2	0	LGGM	GRCh37	7	138968710	138968710	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	9	.	.	ENST00000473989.3:c.3059C>T	p.Ser1020Leu	p.S1020L	ENST00000473989	NM_173569.3	1020	tCa/tTa	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		51	1.1		HGNC	p.S1020L		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138968710,C,T&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		S/L		T	low	3059/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=791&re=1346&var=S1020L	deleterious_low_confidence(0)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Ser1020Leu,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Ser937Leu,ENST00000288561,;							MODERATE	3059/4044	S1020L	UBN2_HUMAN			Transcript		benign(0.162)	.	ENSP00000418648		CCDS43655.2			1	
UBAP2L	0	LGGM	GRCh37	1	154223699	154223699	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	100	9	.	.	ENST00000428931.1:c.1396A>C	p.Met466Leu	p.M466L	ENST00000428931	NM_014847.3	466	Atg/Ctg	0	1		UPI000013E257	0	NA	ENST00000361546		ENSG00000143569	29877		109	0.695		HGNC	p.M466L		UBAP2L		SNV							ENST00000343815	protein_coding	getma.org/?cm=var&var=hg19,1,154223699,A,C&fts=all		hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF18		M/L		C	neutral	1438/3864		getma.org/?cm=msa&ty=f&p=UBP2L_HUMAN&rb=401&re=493&var=M466L	tolerated(0.31)	Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN				UBAP2L,missense_variant,p.Met466Leu,ENST00000428931,NM_014847.3;UBAP2L,missense_variant,p.Met466Leu,ENST00000361546,;UBAP2L,missense_variant,p.Met477Leu,ENST00000271877,NM_001287816.1;UBAP2L,missense_variant,p.Met466Leu,ENST00000343815,NM_001127320.1,NM_001287815.1;UBAP2L,upstream_gene_variant,,ENST00000433615,;UBAP2L,downstream_gene_variant,,ENST00000368504,;AL590431.1,upstream_gene_variant,,ENST00000517008,;UBAP2L,upstream_gene_variant,,ENST00000495676,;UBAP2L,upstream_gene_variant,,ENST00000489076,;UBAP2L,downstream_gene_variant,,ENST00000466173,;							MODERATE	1396/3264	M466L	UBP2L_HUMAN			Transcript		unknown(0)	.	ENSP00000355343		CCDS1063.1			1	
EPHA4	0	LGGM	GRCh37	2	222428975	222428975	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	69	9	.	.	ENST00000281821.2:c.299A>G	p.Glu100Gly	p.E100G	ENST00000281821	NM_004438.3	100	gAg/gGg	0	1	1	UPI000012A077	0	getma.org/pdb.php?prot=EPHA4_HUMAN&from=30&to=204&var=E100G	ENST00000281821		ENSG00000116106	3388		78	3.66		HGNC	p.E49G		EPHA4		SNV							ENST00000392071	protein_coding	getma.org/?cm=var&var=hg19,2,222428975,T,C&fts=all		Gene3D:2.60.120.260,Pfam_domain:PF01404,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS51550,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF25,SMART_domains:SM00615,Superfamily_domains:SSF49785		E/G		C	high	341/6346		getma.org/?cm=msa&ty=f&p=EPHA4_HUMAN&rb=30&re=204&var=E100G	deleterious(0)	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN			YES	EPHA4,missense_variant,p.Glu100Gly,ENST00000281821,NM_004438.3;EPHA4,missense_variant,p.Glu100Gly,ENST00000409854,;EPHA4,missense_variant,p.Glu100Gly,ENST00000409938,;EPHA4,missense_variant,p.Glu49Gly,ENST00000392071,;EPHA4,missense_variant,p.Glu100Gly,ENST00000541600,;EPHA4,missense_variant,p.Glu41Gly,ENST00000419964,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,3_prime_UTR_variant,,ENST00000415749,;							MODERATE	299/2961	E100G	EPHA4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000281821		CCDS2447.1			1	
BDP1	0	LGGM	GRCh37	5	70848948	70848948	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	51	9	.	.	ENST00000358731.4:c.7001G>T	p.Cys2334Phe	p.C2334F	ENST00000358731	NM_018429.2	2334	tGt/tTt	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		60	0.895		HGNC	p.C2334F		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70848948,G,T&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		C/F		T	low	7264/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=C2334F	deleterious(0.01)				YES	BDP1,missense_variant,p.Cys2334Phe,ENST00000358731,NM_018429.2;BDP1,missense_variant,p.Val408Phe,ENST00000380675,;BDP1,missense_variant,p.Val528Phe,ENST00000514903,;BDP1,missense_variant,p.Cys356Phe,ENST00000525844,;							MODERATE	7001/7875	C2334F	BDP1_HUMAN			Transcript		benign(0.253)	.	ENSP00000351575		CCDS43328.1			1	
AGBL1	0	LGGM	GRCh37	15	86814877	86814877	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	95	10	.	.	ENST00000441037.2:c.1877A>T	p.Lys626Met	p.K626M	ENST00000441037	NM_152336.2	626	aAg/aTg	0	1	1	UPI0000EC9CE0	0	NA	ENST00000441037		ENSG00000166748	26504		105	1.96		HGNC	p.K626M		AGBL1		SNV			1				ENST00000441037	protein_coding	getma.org/?cm=var&var=hg19,15,86814877,A,T&fts=all		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5		K/M		T	medium	1972/3508		getma.org/?cm=msa&ty=f&p=CBPC4_HUMAN&rb=535&re=698&var=K626M	tolerated(0.07)	J3KQF5_HUMAN			YES	AGBL1,missense_variant,p.Lys626Met,ENST00000441037,NM_152336.2;AGBL1,missense_variant,p.Lys626Met,ENST00000421325,;AGBL1,missense_variant,p.Lys357Met,ENST00000389298,;AGBL1,non_coding_transcript_exon_variant,,ENST00000567715,;AGBL1,non_coding_transcript_exon_variant,,ENST00000568785,;							MODERATE	1877/3201	K626M	CBPC4_HUMAN			Transcript		benign(0.342)	.	ENSP00000413001		CCDS58398.1			1	
USP9X	0	LGGM	GRCh37	X	41075225	41075225	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	16	10	.	.	ENST00000324545.8:c.5405A>G	p.Tyr1802Cys	p.Y1802C	ENST00000324545	NM_001039590.2	1802	tAt/tGt	0	1	1	UPI00001AF419	0	getma.org/pdb.php?prot=USP9X_HUMAN&from=1554&to=1953&var=Y1802C	ENST00000324545		ENSG00000124486	12632		26	3.005		HGNC	p.Y1802C		USP9X		SNV			1				ENST00000324545	protein_coding	getma.org/?cm=var&var=hg19,X,41075225,A,G&fts=all		Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235		Y/C		G	medium	6038/12401		getma.org/?cm=msa&ty=f&p=USP9X_HUMAN&rb=1554&re=1953&var=Y1802C	deleterious(0)				YES	USP9X,missense_variant,p.Tyr1802Cys,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,missense_variant,p.Tyr1802Cys,ENST00000378308,;							MODERATE	5405/7713	Y1802C	USP9X_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000316357		CCDS43930.1			1	
TMCO6	0	LGGM	GRCh37	5	140022234	140022234	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	10	.	.	ENST00000394671.3:c.667G>A	p.Glu223Lys	p.E223K	ENST00000394671	NM_018502.3	223	Gaa/Aaa	0	1	1	UPI00003E5FF0	0	NA	ENST00000394671		ENSG00000113119	28814		52	0.895		HGNC	p.E223K		TMCO6		SNV							ENST00000394671	protein_coding	getma.org/?cm=var&var=hg19,5,140022234,G,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR16356,Superfamily_domains:SSF48371		E/K		A	low	768/1887		getma.org/?cm=msa&ty=f&p=TMCO6_HUMAN&rb=201&re=400&var=E223K	deleterious(0)				YES	TMCO6,missense_variant,p.Glu223Lys,ENST00000394671,NM_018502.3;TMCO6,missense_variant,p.Glu223Lys,ENST00000252100,;TMCO6,5_prime_UTR_variant,,ENST00000537378,;TMCO6,downstream_gene_variant,,ENST00000511410,;NDUFA2,downstream_gene_variant,,ENST00000252102,NM_001185012.1,NM_002488.4;NDUFA2,downstream_gene_variant,,ENST00000512088,;IK,upstream_gene_variant,,ENST00000513256,;NDUFA2,intron_variant,,ENST00000510680,;TMCO6,3_prime_UTR_variant,,ENST00000515653,;TMCO6,3_prime_UTR_variant,,ENST00000504069,;TMCO6,non_coding_transcript_exon_variant,,ENST00000510336,;TMCO6,non_coding_transcript_exon_variant,,ENST00000515265,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509605,;TMCO6,downstream_gene_variant,,ENST00000505086,;TMCO6,downstream_gene_variant,,ENST00000514449,;NDUFA2,downstream_gene_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000513002,;TMCO6,downstream_gene_variant,,ENST00000509217,;TMCO6,upstream_gene_variant,,ENST00000509269,;TMCO6,downstream_gene_variant,,ENST00000394669,;							MODERATE	667/1482	E223K	TMCO6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000378166		CCDS4233.2			1	
POLI	0	LGGM	GRCh37	18	51804175	51804175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	67	10	.	.	ENST00000579534.1:c.509G>T	p.Ser170Ile	p.S170I	ENST00000579534	NM_007195.2	170	aGt/aTt	0	1	1	UPI00004DDD95	0	getma.org/pdb.php?prot=POLI_HUMAN&from=58&to=236&var=S170I	ENST00000579534		ENSG00000101751	9182		77	0.295		HGNC	p.S44I		POLI		SNV							ENST00000217800	protein_coding	getma.org/?cm=var&var=hg19,18,51804175,G,T&fts=all		PROSITE_profiles:PS50173,hmmpanther:PTHR11076:SF10,hmmpanther:PTHR11076,Pfam_domain:PF00817,Gene3D:3.30.70.270,Superfamily_domains:SSF56672		S/I		T	neutral	652/6131		getma.org/?cm=msa&ty=f&p=POLI_HUMAN&rb=58&re=236&var=S170I	tolerated(0.08)	J3QQZ8_HUMAN,J3KTN3_HUMAN,J3KSW2_HUMAN,J3KRS8_HUMAN,J3KRG0_HUMAN			YES	POLI,missense_variant,p.Ser170Ile,ENST00000579534,NM_007195.2;POLI,missense_variant,p.Ser67Ile,ENST00000579434,;POLI,missense_variant,p.Ser44Ile,ENST00000217800,;POLI,missense_variant,p.Ser170Ile,ENST00000406285,;POLI,missense_variant,p.Ser102Ile,ENST00000583136,;POLI,missense_variant,p.Ser127Ile,ENST00000577612,;POLI,missense_variant,p.Ser67Ile,ENST00000580880,;POLI,non_coding_transcript_exon_variant,,ENST00000580905,;POLI,non_coding_transcript_exon_variant,,ENST00000577971,;							MODERATE	509/2223	S170I	POLI_HUMAN			Transcript		benign(0.103)	.	ENSP00000462664		CCDS11954.2			1	
CYP4F11	0	LGGM	GRCh37	19	16038072	16038072	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	63	11	.	.	ENST00000402119.4:c.475A>G	p.Ile159Val	p.I159V	ENST00000402119	NM_021187.3	159	Atc/Gtc	0	1		UPI000013CC35	0	getma.org/pdb.php?prot=CP4FB_HUMAN&from=52&to=515&var=I159V	ENST00000248041		ENSG00000171903	13265		74	1.63		HGNC	p.I159V		CYP4F11		SNV							ENST00000326742	protein_coding	getma.org/?cm=var&var=hg19,19,16038072,T,C&fts=all		hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF61,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		I/V		C	low	512/2977		getma.org/?cm=msa&ty=f&p=CP4FB_HUMAN&rb=52&re=515&var=I159V	tolerated(0.37)					CYP4F11,missense_variant,p.Ile159Val,ENST00000402119,NM_021187.3;CYP4F11,missense_variant,p.Ile159Val,ENST00000248041,NM_001128932.1;CYP4F11,missense_variant,p.Ile159Val,ENST00000326742,;CYP4F11,5_prime_UTR_variant,,ENST00000591841,;							MODERATE	475/1575	I159V	CP4FB_HUMAN			Transcript		benign(0.238)	.	ENSP00000248041		CCDS12337.1			1	
IGF1R	0	LGGM	GRCh37	15	99467793	99467793	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	114	11	.	.	ENST00000268035.6:c.2662T>C	p.Tyr888His	p.Y888H	ENST00000268035	NM_000875.3	888	Tat/Cat	0	1	1	UPI000012D3EA	0	getma.org/pdb.php?prot=IGF1R_HUMAN&from=833&to=917&var=Y888H	ENST00000268035		ENSG00000140443	5465		125	-0.17		HGNC	p.Y888H		IGF1R		SNV			1				ENST00000558762	protein_coding	getma.org/?cm=var&var=hg19,15,99467793,T,C&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853		Y/H		C	neutral	3273/11803		getma.org/?cm=msa&ty=f&p=IGF1R_HUMAN&rb=833&re=917&var=Y888H	tolerated(0.55)	H0YNR0_HUMAN,H0YMJ5_HUMAN			YES	IGF1R,missense_variant,p.Tyr888His,ENST00000268035,NM_000875.3;IGF1R,missense_variant,p.Tyr888His,ENST00000558762,;IGF1R,upstream_gene_variant,,ENST00000560972,;IGF1R,non_coding_transcript_exon_variant,,ENST00000560343,;IGF1R,downstream_gene_variant,,ENST00000561049,;IGF1R,downstream_gene_variant,,ENST00000560144,;							MODERATE	2662/4104	Y888H	IGF1R_HUMAN			Transcript		benign(0.005)	.	ENSP00000268035		CCDS10378.1			1	
PROSC	0	LGGM	GRCh37	8	37632875	37632875	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	66	11	.	.	ENST00000328195.3:c.473C>A	p.Pro158His	p.P158H	ENST00000328195	NM_007198.3	158	cCt/cAt	0	1	1	UPI0000131F89	0	getma.org/pdb.php?prot=PROSC_HUMAN&from=15&to=251&var=P158H	ENST00000328195		ENSG00000147471	9457		77	3.32		HGNC	p.P158H		PROSC		SNV							ENST00000328195	protein_coding	getma.org/?cm=var&var=hg19,8,37632875,C,A&fts=all		hmmpanther:PTHR10146,Gene3D:3.20.20.10,TIGRFAM_domain:TIGR00044,Pfam_domain:PF01168,PIRSF_domain:PIRSF004848,Superfamily_domains:SSF51419		P/H		A	medium	540/2556		getma.org/?cm=msa&ty=f&p=PROSC_HUMAN&rb=15&re=251&var=P158H	deleterious(0)	E5RG77_HUMAN,E5RFX7_HUMAN,D3DSW3_HUMAN			YES	PROSC,missense_variant,p.Pro158His,ENST00000328195,NM_007198.3;PROSC,missense_variant,p.Pro106His,ENST00000523187,;PROSC,missense_variant,p.Pro87His,ENST00000523521,;PROSC,downstream_gene_variant,,ENST00000523358,;PROSC,non_coding_transcript_exon_variant,,ENST00000522808,;PROSC,non_coding_transcript_exon_variant,,ENST00000521631,;PROSC,downstream_gene_variant,,ENST00000518036,;							MODERATE	473/828	P158H	PROSC_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000333551		CCDS6096.1			1	
UBE4A	0	LGGM	GRCh37	11	118239441	118239441	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	124	11	.	.	ENST00000431736.2:c.217C>T	p.Arg73Ter	p.R73*	ENST00000431736		73	Cga/Tga	0	1		UPI00001FA485	0	NA	ENST00000252108		ENSG00000110344	12499		135	0		HGNC	p.R73X		UBE4A		SNV							ENST00000252108	protein_coding	getma.org/?cm=var&var=hg19,11,118239441,C,T&fts=all		hmmpanther:PTHR13931:SF2,hmmpanther:PTHR13931		R/*		T	NA	348/6103		NA		B7Z7P0_HUMAN				UBE4A,stop_gained,p.Arg73Ter,ENST00000252108,NM_001204077.1,NM_004788.3;UBE4A,stop_gained,p.Arg73Ter,ENST00000431736,;							HIGH	217/3201	R73*	UBE4A_HUMAN			Transcript			.	ENSP00000252108		CCDS55790.1			1	
CNOT1	0	LGGM	GRCh37	16	58559119	58559119	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	42	11	.	.	ENST00000317147.5:c.6748A>G	p.Ile2250Val	p.I2250V	ENST00000317147	NM_016284.4	2250	Atc/Gtc	0	1	1	UPI00001FF2F6	0	NA	ENST00000317147		ENSG00000125107	7877		53	2.27		HGNC	p.I2245V		CNOT1		SNV							ENST00000569240	protein_coding	getma.org/?cm=var&var=hg19,16,58559119,T,C&fts=all		hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162,Pfam_domain:PF04054		I/V		C	medium	7081/8471		getma.org/?cm=msa&ty=f&p=CNOT1_HUMAN&rb=1996&re=2359&var=I2250V	deleterious(0)	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN			YES	CNOT1,missense_variant,p.Ile2250Val,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,missense_variant,p.Ile2245Val,ENST00000569240,;CNOT1,missense_variant,p.Ile1101Val,ENST00000245138,;SETD6,downstream_gene_variant,,ENST00000394266,;CNOT1,3_prime_UTR_variant,,ENST00000567188,;CNOT1,non_coding_transcript_exon_variant,,ENST00000563130,;CNOT1,non_coding_transcript_exon_variant,,ENST00000569924,;CNOT1,downstream_gene_variant,,ENST00000570139,;							MODERATE	6748/7131	I2250V	CNOT1_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000320949		CCDS10799.1			1	
PCDHB4	0	LGGM	GRCh37	5	140503740	140503740	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	52	11	.	.	ENST00000194152.1:c.2160G>T	p.Ser720=	p.S720=	ENST00000194152	NM_018938.2	720	tcG/tcT	0	1	1	UPI00001273DF	0		ENST00000194152		ENSG00000081818	8689		63			HGNC	p.S720S		PCDHB4		SNV							ENST00000194152	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55		S		T		2160/3621							YES	PCDHB4,synonymous_variant,p.=,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;							LOW	2160/2388		PCDB4_HUMAN			Transcript			.	ENSP00000194152		CCDS4246.1			1	
OR11H4	0	LGGM	GRCh37	14	20711238	20711238	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	41	11	.	.	ENST00000315409.2:c.288C>T	p.Leu96=	p.L96=	ENST00000315409	NM_001004479.1	96	ctC/ctT	0	1	1	UPI0000041C42	0		ENST00000315409		ENSG00000176198	15347		52			HGNC	p.L96L		OR11H4		SNV							ENST00000315409	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF99,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L		T		341/1082							YES	OR11H4,synonymous_variant,p.=,ENST00000315409,NM_001004479.1;							LOW	288/975		O11H4_HUMAN			Transcript			.	ENSP00000318997		CCDS32034.1			1	
RNF133	0	LGGM	GRCh37	7	122338057	122338057	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	81	12	.	.	ENST00000340112.2:c.916A>G	p.Ile306Val	p.I306V	ENST00000340112	NM_139175.1	306	Att/Gtt	0	1	1	UPI0000070D9A	0	NA	ENST00000340112		ENSG00000188050	21154		93	0.205		HGNC	p.I306V	rs371685730	RNF133		SNV	C:0						ENST00000340112	protein_coding	getma.org/?cm=var&var=hg19,7,122338057,T,C&fts=all		hmmpanther:PTHR22765:SF38,hmmpanther:PTHR22765,Superfamily_domains:SSF57850		I/V	C:0.0001	C	neutral	1154/1445	1.50E-05	getma.org/?cm=msa&ty=f&p=RN133_HUMAN&rb=300&re=376&var=I306V	tolerated(0.42)				YES	RNF133,missense_variant,p.Ile306Val,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,;							MODERATE	916/1131	I306V	RN133_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000344489	8.24E-06	CCDS5784.1			1	
CACNA1D	0	LGGM	GRCh37	3	53707122	53707122	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	91	12	.	.	ENST00000288139.4:c.1117-618G>T		*373*	ENST00000288139	NM_000720.3			0	1		UPI000013DEF4	0	getma.org/pdb.php?prot=CAC1D_HUMAN&from=163&to=405&var=V397L	ENST00000350061		ENSG00000157388	1391		103	2.01		HGNC	p.V70L		CACNA1D		SNV			1				ENST00000481478	protein_coding	getma.org/?cm=var&var=hg19,3,53707122,G,T&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		V/L		T	medium	1700/7636		getma.org/?cm=msa&ty=f&p=CAC1D_HUMAN&rb=163&re=405&var=V397L	deleterious(0.01)					CACNA1D,missense_variant,p.Val397Leu,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Val397Leu,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Val70Leu,ENST00000481478,;CACNA1D,intron_variant,,ENST00000288139,NM_000720.3;CACNA1D,intron_variant,,ENST00000481085,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000498251,;CACNA1D,intron_variant,,ENST00000464429,;							MODERATE	1189/6486	V397L	CAC1D_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288133		CCDS46848.1			1	
EIF3B	0	LGGM	GRCh37	7	2404084	2404084	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	73	12	.	.	ENST00000360876.4:c.1077A>G	p.Leu359=	p.L359=	ENST00000360876	NM_001037283.1	359	ctA/ctG	0	1	1	UPI000013F934	0		ENST00000360876		ENSG00000106263	3280		85			HGNC	p.L359L	COSM485222	EIF3B		SNV						1	ENST00000397011	protein_coding			Superfamily_domains:0047732,Gene3D:2.130.10.10,HAMAP:MF_03001,PIRSF_domain:PIRSF036424,hmmpanther:PTHR14068,hmmpanther:PTHR14068:SF0		L		G		1133/3055				Q86UM1_HUMAN,C9JQN7_HUMAN			YES	EIF3B,synonymous_variant,p.=,ENST00000360876,NM_001037283.1;EIF3B,synonymous_variant,p.=,ENST00000397011,NM_003751.3;EIF3B,synonymous_variant,p.=,ENST00000431643,;EIF3B,downstream_gene_variant,,ENST00000413917,;EIF3B,non_coding_transcript_exon_variant,,ENST00000463026,;EIF3B,non_coding_transcript_exon_variant,,ENST00000468250,;EIF3B,non_coding_transcript_exon_variant,,ENST00000463229,;EIF3B,upstream_gene_variant,,ENST00000466199,;					1		LOW	1077/2445		EIF3B_HUMAN			Transcript			.	ENSP00000354125		CCDS5332.1			1	
AAK1	0	LGGM	GRCh37	2	69734696	69734696	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	60	12	.	.	ENST00000409085.4:c.2021C>G	p.Thr674Ser	p.T674S	ENST00000409085	NM_014911.3	674	aCt/aGt	0	1	1	UPI0001881663	0	NA	ENST00000409085		ENSG00000115977	19679		72	0.975		HGNC	p.T674S		AAK1		SNV							ENST00000406297	protein_coding	getma.org/?cm=var&var=hg19,2,69734696,G,C&fts=all		hmmpanther:PTHR22967,hmmpanther:PTHR22967:SF9		T/S		C	low	2398/11345		getma.org/?cm=msa&ty=f&p=AAK1_HUMAN&rb=361&re=959&var=T674S	tolerated(0.06)				YES	AAK1,missense_variant,p.Thr674Ser,ENST00000409085,NM_014911.3;AAK1,missense_variant,p.Thr674Ser,ENST00000406297,;AAK1,intron_variant,,ENST00000409068,;AAK1,non_coding_transcript_exon_variant,,ENST00000489327,;							MODERATE	2021/2886	T674S	AAK1_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000386456		CCDS1893.2			1	
MAGI2	0	LGGM	GRCh37	7	79082568	79082568	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	90	12	.	.	ENST00000354212.4:c.69C>T	p.Asn23=	p.N23=	ENST00000354212	NM_012301.3	23	aaC/aaT	0	1	1	UPI00001615D2	0		ENST00000354212		ENSG00000187391	18957		102			HGNC	p.N23N	rs771988703	MAGI2		SNV				0.000101			ENST00000522391	protein_coding			PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156		N		A		323/6861	1.52E-05						YES	MAGI2,synonymous_variant,p.=,ENST00000354212,NM_012301.3;MAGI2,synonymous_variant,p.=,ENST00000419488,;MAGI2,synonymous_variant,p.=,ENST00000522391,;MAGI2-AS3,intron_variant,,ENST00000426835,;MAGI2-AS3,intron_variant,,ENST00000446159,;MAGI2-AS3,intron_variant,,ENST00000429408,;MAGI2-AS3,upstream_gene_variant,,ENST00000414797,;MAGI2-AS3,upstream_gene_variant,,ENST00000448195,;MAGI2-AS3,upstream_gene_variant,,ENST00000422093,;MAGI2-AS3,upstream_gene_variant,,ENST00000451809,;MAGI2-AS3,upstream_gene_variant,,ENST00000424477,;MAGI2-AS3,upstream_gene_variant,,ENST00000435749,;							LOW	69/4368		MAGI2_HUMAN			Transcript			.	ENSP00000346151	1.65E-05	CCDS5594.1			1	
TTN	0	LGGM	GRCh37	2	179466483	179466483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	131	13	.	.	ENST00000589042.1:c.55334T>C	p.Ile18445Thr	p.I18445T	ENST00000589042	NM_001267550.1	18445	aTt/aCt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=16741&to=16835&var=I16804T	ENST00000591111		ENSG00000155657	12403		144	-0.41		HGNC	p.I9505T		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179466483,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		I/T		G	neutral	50636/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=16741&re=16835&var=I16804T		C9JQJ2_HUMAN				TTN,missense_variant,p.Ile18445Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile16804Thr,ENST00000591111,;TTN,missense_variant,p.Ile15877Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile9572Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile9505Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile9380Thr,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,;							MODERATE	50411/103053	I16804T	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CA9	0	LGGM	GRCh37	9	35679325	35679325	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	43	13	.	.	ENST00000378357.4:c.1051C>T	p.Leu351=	p.L351=	ENST00000378357	NM_001216.2	351	Ctg/Ttg	0	1	1	UPI000013E02C	0		ENST00000378357		ENSG00000107159	1383		56			HGNC	p.L351L		CA9		SNV							ENST00000378357	protein_coding			Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF18,SMART_domains:SM01057,Superfamily_domains:SSF51069		L		T		1155/1618							YES	CA9,synonymous_variant,p.=,ENST00000378357,NM_001216.2;TPM2,downstream_gene_variant,,ENST00000378292,NM_213674.1;TPM2,downstream_gene_variant,,ENST00000378300,;TPM2,downstream_gene_variant,,ENST00000360958,NM_003289.3;TPM2,downstream_gene_variant,,ENST00000329305,;TPM2,downstream_gene_variant,,ENST00000607559,;CA9,non_coding_transcript_exon_variant,,ENST00000493245,;CA9,upstream_gene_variant,,ENST00000485665,;ARHGEF39,upstream_gene_variant,,ENST00000490638,;TPM2,downstream_gene_variant,,ENST00000471212,;							LOW	1051/1380		CAH9_HUMAN			Transcript			.	ENSP00000367608		CCDS6585.1			1	
SLC9A2	0	LGGM	GRCh37	2	103318891	103318891	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	48	13	.	.	ENST00000233969.2:c.1775A>T	p.Lys592Met	p.K592M	ENST00000233969	NM_003048.3	592	aAg/aTg	0	1	1	UPI000012FD21	0	NA	ENST00000233969		ENSG00000115616	11072		61	1.495		HGNC	p.K592M		SLC9A2		SNV							ENST00000233969	protein_coding	getma.org/?cm=var&var=hg19,2,103318891,A,T&fts=all		hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,TIGRFAM_domain:TIGR00840,Prints_domain:PR01086		K/M		T	low	1917/5410		getma.org/?cm=msa&ty=f&p=SL9A2_HUMAN&rb=486&re=685&var=K592M	deleterious(0.05)				YES	SLC9A2,missense_variant,p.Lys592Met,ENST00000233969,NM_003048.3;SLC9A2,non_coding_transcript_exon_variant,,ENST00000469286,;							MODERATE	1775/2439	K592M	SL9A2_HUMAN			Transcript		possibly_damaging(0.64)	.	ENSP00000233969		CCDS2062.1			1	
SIGLEC9	0	LGGM	GRCh37	19	51628855	51628855	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	51	13	.	.	ENST00000440804.3:c.423C>G	p.Ala141=	p.A141=	ENST00000440804	NM_001198558.1	141	gcC/gcG	0	1		UPI00000389EE	0		ENST00000250360		ENSG00000129450	10878		64			HGNC	p.A141A		SIGLEC9		SNV							ENST00000440804	protein_coding			hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43		A		G		490/1690								SIGLEC9,splice_region_variant,p.=,ENST00000440804,NM_001198558.1;SIGLEC9,splice_region_variant,p.=,ENST00000250360,NM_014441.2;SIGLEC9,upstream_gene_variant,,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;							LOW	423/1392		SIGL9_HUMAN			Transcript			.	ENSP00000250360		CCDS12825.1			1	
BOD1L1	0	LGGM	GRCh37	4	13615154	13615154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	90	14	.	.	ENST00000040738.5:c.1306G>A	p.Gly436Arg	p.G436R	ENST00000040738	NM_148894.2	436	Gga/Aga	0	1	1	UPI000066D9E3	0	NA	ENST00000040738		ENSG00000038219	31792		104	2.135		HGNC	p.G436R		BOD1L1		SNV							ENST00000040738	protein_coding	getma.org/?cm=var&var=hg19,4,13615154,C,T&fts=all		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		G/R		T	medium	1442/10565		getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=171&re=609&var=G436R					YES	BOD1L1,missense_variant,p.Gly436Arg,ENST00000040738,NM_148894.2;BOD1L1,3_prime_UTR_variant,,ENST00000482713,;							MODERATE	1306/9156	G436R	BD1L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000040738		CCDS3411.2			1	
FAM208A	0	LGGM	GRCh37	3	56680575	56680575	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	56	14	.	.	ENST00000493960.2:c.2190A>G	p.Leu730=	p.L730=	ENST00000493960	NM_001112736.1	730	ttA/ttG	0	1	1	UPI0000422561	0		ENST00000493960		ENSG00000163946	30314		70			HGNC	p.L334L		FAM208A		SNV							ENST00000431842	protein_coding			hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207		L		C		2201/5600							YES	FAM208A,synonymous_variant,p.=,ENST00000431842,NM_015224.3;FAM208A,synonymous_variant,p.=,ENST00000493960,NM_001112736.1;FAM208A,synonymous_variant,p.=,ENST00000355628,;							LOW	2190/4539		F208A_HUMAN			Transcript			.	ENSP00000417509		CCDS46853.1			1	
SLFN12L	0	LGGM	GRCh37	17	33806906	33806906	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	125	14	.	.	ENST00000260908.7:c.323T>C	p.Val108Ala	p.V108A	ENST00000260908	NM_001195790.1	108	gTt/gCt	0	1	1	UPI0001E556C0	0	NA	ENST00000260908		ENSG00000205045	33920		139	1.525		HGNC	p.V137A		SLFN12L		SNV							ENST00000361112	protein_coding	getma.org/?cm=var&var=hg19,17,33806906,A,G&fts=all		hmmpanther:PTHR12155:SF23,hmmpanther:PTHR12155		V/A		G	low	441/3119		getma.org/?cm=msa&ty=f&p=SN12L_HUMAN&rb=1&re=200&var=V140A	tolerated(0.17)	F5H6G3_HUMAN			YES	SLFN12L,missense_variant,p.Val108Ala,ENST00000260908,NM_001195790.1;SLFN12L,missense_variant,p.Val137Ala,ENST00000361112,;SLFN12L,missense_variant,p.Val139Ala,ENST00000449046,;RP11-686D22.9,downstream_gene_variant,,ENST00000587076,;SLFN12L,upstream_gene_variant,,ENST00000587436,;SLFN12L,upstream_gene_variant,,ENST00000590802,;							MODERATE	323/1767	V140A				Transcript		benign(0.395)	.	ENSP00000437635		CCDS56026.1			1	
AGPS	0	LGGM	GRCh37	2	178301583	178301583	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	85	14	.	.	ENST00000264167.4:c.533A>G	p.Glu178Gly	p.E178G	ENST00000264167	NM_003659.3	178	gAg/gGg	0	1	1	UPI00001254E8	0	NA	ENST00000264167		ENSG00000018510	327		99	2.085		HGNC	p.E178G		AGPS		SNV			1				ENST00000264167	protein_coding	getma.org/?cm=var&var=hg19,2,178301583,A,G&fts=all		hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF3,Superfamily_domains:SSF56176		E/G		G	medium	679/7764		getma.org/?cm=msa&ty=f&p=ADAS_HUMAN&rb=1&re=200&var=E178G	tolerated(0.05)	Q53SN7_HUMAN,Q53SG6_HUMAN,Q53S12_HUMAN,B7Z3Q4_HUMAN			YES	AGPS,missense_variant,p.Glu178Gly,ENST00000264167,NM_003659.3;AGPS,intron_variant,,ENST00000409888,;AGPS,upstream_gene_variant,,ENST00000460342,;							MODERATE	533/1977	E178G	ADAS_HUMAN			Transcript		benign(0.007)	.	ENSP00000264167		CCDS2275.1			1	
ST7	0	LGGM	GRCh37	7	116859230	116859230	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	81	15	.	.	ENST00000265437.5:c.1498T>G	p.Ser500Ala	p.S500A	ENST00000265437	NM_021908.2	500	Tct/Gct	0	1	1	UPI00000702A3	0	NA	ENST00000265437		ENSG00000004866	11351		96	0.515		HGNC	p.S457A		ST7		SNV							ENST00000393447	protein_coding	getma.org/?cm=var&var=hg19,7,116859230,T,G&fts=all		hmmpanther:PTHR12745,Pfam_domain:PF04184		S/A		G	neutral	1712/2899		getma.org/?cm=msa&ty=f&p=ST7_HUMAN&rb=16&re=571&var=S500A	tolerated(0.61)	Q9NRC0_HUMAN,C9JZV9_HUMAN,C9JX79_HUMAN,C9JRQ0_HUMAN,C9JCI7_HUMAN			YES	ST7,missense_variant,p.Ser500Ala,ENST00000265437,NM_021908.2;ST7,missense_variant,p.Ser422Ala,ENST00000393443,;ST7,missense_variant,p.Ser457Ala,ENST00000393447,;ST7,missense_variant,p.Ser500Ala,ENST00000323984,;ST7,missense_variant,p.Ser495Ala,ENST00000393449,;ST7,missense_variant,p.Ser434Ala,ENST00000393444,;ST7,missense_variant,p.Ser477Ala,ENST00000393451,NM_018412.3;ST7,missense_variant,p.Ser454Ala,ENST00000432298,;ST7,missense_variant,p.Ser431Ala,ENST00000422922,;ST7,missense_variant,p.Phe448Val,ENST00000490039,;ST7,intron_variant,,ENST00000393446,;ST7,intron_variant,,ENST00000446490,;ST7,splice_region_variant,,ENST00000465641,;ST7,downstream_gene_variant,,ENST00000543837,;ST7,splice_region_variant,,ENST00000443979,;ST7,splice_region_variant,,ENST00000464020,;							MODERATE	1498/1758	S500A	ST7_HUMAN			Transcript		benign(0.005)	.	ENSP00000265437		CCDS5770.1			1	
PCDHGA7	0	LGGM	GRCh37	5	140764664	140764664	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	64	15	.	.	ENST00000518325.1:c.2198C>T	p.Ala733Val	p.A733V	ENST00000518325	NM_018920.2	733	gCg/gTg	0	1	1	UPI000007146F	0	NA	ENST00000518325		ENSG00000253537	8705		79	1.115		HGNC	p.A733V		PCDHGA7		SNV							ENST00000518325	protein_coding	getma.org/?cm=var&var=hg19,5,140764664,C,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56		A/V		T	low	2198/4605		getma.org/?cm=msa&ty=f&p=PCDG7_HUMAN&rb=666&re=865&var=A733V	tolerated_low_confidence(0.22)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA7,missense_variant,p.Ala733Val,ENST00000518325,NM_018920.2;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;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;							MODERATE	2198/2799	A733V	PCDG7_HUMAN			Transcript		benign(0.005)	.	ENSP00000430024		CCDS54927.1			1	
CHML	0	LGGM	GRCh37	1	241798454	241798454	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	109	16	.	.	ENST00000366553.1:c.615A>G	p.Val205=	p.V205=	ENST00000366553	NM_001821.3	205	gtA/gtG	0	1	1	UPI0000073C74	0		ENST00000366553		ENSG00000203668	1941		125			HGNC	p.V205V		CHML		SNV							ENST00000366553	protein_coding			hmmpanther:PTHR11787,hmmpanther:PTHR11787:SF6,PIRSF_domain:PIRSF016550,Superfamily_domains:SSF51905		V		C		779/7078							YES	CHML,synonymous_variant,p.=,ENST00000366553,NM_001821.3;OPN3,intron_variant,,ENST00000366554,NM_014322.2;OPN3,intron_variant,,ENST00000331838,;OPN3,intron_variant,,ENST00000469376,;OPN3,intron_variant,,ENST00000490673,;OPN3,intron_variant,,ENST00000478849,;OPN3,intron_variant,,ENST00000463155,;							LOW	615/1971		RAE2_HUMAN			Transcript			.	ENSP00000355511		CCDS31073.1			1	
CAPN5	0	LGGM	GRCh37	11	76825408	76825408	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	85	16	.	.	ENST00000278559.3:c.627T>C	p.Thr209=	p.T209=	ENST00000278559	NM_004055.4	209	acT/acC	0	1	1	UPI0000126E9F	0		ENST00000278559		ENSG00000149260	1482		101			HGNC	p.T249T		CAPN5		SNV			1				ENST00000456580	protein_coding			Superfamily_domains:SSF54001,SMART_domains:SM00230,Gene3D:3.90.70.10,Pfam_domain:PF00648,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF138,PROSITE_profiles:PS50203		T		C		816/4397				E9PS73_HUMAN			YES	CAPN5,synonymous_variant,p.=,ENST00000278559,NM_004055.4;CAPN5,synonymous_variant,p.=,ENST00000456580,;CAPN5,synonymous_variant,p.=,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,downstream_gene_variant,,ENST00000533889,;							LOW	627/1923		CAN5_HUMAN			Transcript			.	ENSP00000278559		CCDS8248.1			1	
CFAP418	0	LGGM	GRCh37	8	96272092	96272092	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	91	17	.	.	ENST00000286688.5:c.350G>A	p.Gly117Glu	p.G117E	ENST00000286688	NM_177965.3	117	gGg/gAg	0	1	1	UPI00000737D8	0	NA	ENST00000286688		ENSG00000156172	27232		108	2.65		HGNC	p.G117E		C8orf37		SNV			1				ENST00000286688	protein_coding	getma.org/?cm=var&var=hg19,8,96272092,C,T&fts=all		Pfam_domain:PF14996		G/E		T	medium	362/3334		getma.org/?cm=msa&ty=f&p=CH037_HUMAN&rb=52&re=205&var=G117E	deleterious(0)	F4Y588_HUMAN			YES	C8orf37,missense_variant,p.Gly117Glu,ENST00000286688,NM_177965.3;KB-1047C11.2,intron_variant,,ENST00000517655,;							MODERATE	350/624	G117E	CH037_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286688		CCDS6268.1			1	
TNIP3	0	LGGM	GRCh37	4	122078254	122078254	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	81	17	.	.	ENST00000509841.1:c.589G>T	p.Glu197Ter	p.E197*	ENST00000509841	NM_001244764.1	197	Gag/Tag	0	1		UPI000013C569	0	NA	ENST00000057513		ENSG00000050730	19315		98	0		HGNC	p.E120X		TNIP3		SNV							ENST00000454328	protein_coding	getma.org/?cm=var&var=hg19,4,122078254,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2		E/*		A	NA	573/2416		NA						TNIP3,stop_gained,p.Glu120Ter,ENST00000454328,;TNIP3,stop_gained,p.Glu120Ter,ENST00000057513,NM_024873.5;TNIP3,stop_gained,p.Glu190Ter,ENST00000507879,NM_001128843.2;TNIP3,stop_gained,p.Glu197Ter,ENST00000509841,NM_001244764.1;TNIP3,non_coding_transcript_exon_variant,,ENST00000506753,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;							HIGH	358/978	E120*	TNIP3_HUMAN			Transcript			.	ENSP00000057513		CCDS3718.1			1	
RALYL	0	LGGM	GRCh37	8	85441563	85441563	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	144	17	.	.	ENST00000517638.1:c.46G>A	p.Gly16Ser	p.G16S	ENST00000517638	NM_001100391.1	16	Ggc/Agc	0	1		UPI0000072539	0	NA	ENST00000521268		ENSG00000184672	27036		161	0.895		HGNC	p.G3S		RALYL		SNV							ENST00000522647	protein_coding	getma.org/?cm=var&var=hg19,8,85441563,G,A&fts=all		PIRSF_domain:PIRSF037992,hmmpanther:PTHR13968		G/S		A	low	1112/2701		getma.org/?cm=msa&ty=f&p=RALYL_HUMAN&rb=1&re=52&var=G3S	tolerated(0.49)	E5RIX9_HUMAN,E5RG71_HUMAN				RALYL,missense_variant,p.Gly3Ser,ENST00000521268,NM_173848.5;RALYL,missense_variant,p.Gly3Ser,ENST00000518566,NM_001287243.1;RALYL,missense_variant,p.Gly3Ser,ENST00000522455,NM_001100392.1;RALYL,missense_variant,p.Gly16Ser,ENST00000517638,NM_001100391.1;RALYL,missense_variant,p.Gly3Ser,ENST00000521695,NM_001100393.1;RALYL,missense_variant,p.Gly3Ser,ENST00000522613,;RALYL,missense_variant,p.Gly3Ser,ENST00000517988,;RALYL,missense_variant,p.Gly3Ser,ENST00000522647,;							MODERATE	7/876	G3S	RALYL_HUMAN			Transcript		benign(0.119)	.	ENSP00000430367		CCDS55253.1			1	
CDHR3	0	LGGM	GRCh37	7	105658431	105658431	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	46	19	.	.	ENST00000317716.9:c.1566G>T	p.Gln522His	p.Q522H	ENST00000317716	NM_152750.4	522	caG/caT	0	1	1	UPI00001C0C6E	0	getma.org/pdb.php?prot=CDHR3_HUMAN&from=466&to=557&var=Q522H	ENST00000317716		ENSG00000128536	26308		65	1.6		HGNC	p.Q434H		CDHR3		SNV							ENST00000478080	protein_coding	getma.org/?cm=var&var=hg19,7,105658431,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF289,SMART_domains:SM00112,Superfamily_domains:SSF49313		Q/H		T	low	1646/3813		getma.org/?cm=msa&ty=f&p=CDHR3_HUMAN&rb=466&re=557&var=Q522H	deleterious(0.03)	E7EQG5_HUMAN			YES	CDHR3,missense_variant,p.Gln522His,ENST00000542731,;CDHR3,missense_variant,p.Gln522His,ENST00000317716,NM_152750.4;CDHR3,missense_variant,p.Gln434His,ENST00000478080,;CDHR3,intron_variant,,ENST00000343407,;CDHR3,intron_variant,,ENST00000466045,;CDHR3,intron_variant,,ENST00000468477,;CDHR3,downstream_gene_variant,,ENST00000541203,;CDHR3,intron_variant,,ENST00000470188,;CDHR3,downstream_gene_variant,,ENST00000496633,;							MODERATE	1566/2658	Q522H	CDHR3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000325954		CCDS47684.1			1	
TNNT2	0	LGGM	GRCh37	1	201332424	201332424	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	63	19	.	.	ENST00000509001.1:c.570G>C	p.Lys190Asn	p.K190N	ENST00000509001	NM_001276347.1	190	aaG/aaC	0	1		UPI00015E0CF8	0	getma.org/pdb.php?prot=TNNT2_HUMAN&from=103&to=247&var=K200N	ENST00000236918		ENSG00000118194	11949		82	2.645		HGNC	p.K190N		TNNT2		SNV			1				ENST00000367315	protein_coding	getma.org/?cm=var&var=hg19,1,201332424,C,G&fts=all		Gene3D:1.20.5.350,Pfam_domain:PF00992,hmmpanther:PTHR11521,hmmpanther:PTHR11521:SF5,Superfamily_domains:SSF90250		K/N		G	medium	585/1078		getma.org/?cm=msa&ty=f&p=TNNT2_HUMAN&rb=103&re=247&var=K200N	deleterious(0.01)	Q8IZA1_HUMAN,F8W748_HUMAN,A9QLG2_HUMAN,A9QLG1_HUMAN				TNNT2,missense_variant,p.Lys190Asn,ENST00000509001,NM_001276347.1;TNNT2,missense_variant,p.Lys202Asn,ENST00000458432,;TNNT2,missense_variant,p.Lys192Asn,ENST00000421663,;TNNT2,missense_variant,p.Lys190Asn,ENST00000367322,NM_001001431.2,NM_000364.3;TNNT2,missense_variant,p.Lys190Asn,ENST00000367318,NM_001001430.2,NM_001276345.1;TNNT2,missense_variant,p.Lys195Asn,ENST00000236918,;TNNT2,missense_variant,p.Lys190Asn,ENST00000367317,;TNNT2,missense_variant,p.Lys190Asn,ENST00000367315,;TNNT2,missense_variant,p.Lys185Asn,ENST00000360372,;TNNT2,missense_variant,p.Lys160Asn,ENST00000367320,NM_001276346.1;TNNT2,missense_variant,p.Lys185Asn,ENST00000438742,NM_001001432.2;TNNT2,downstream_gene_variant,,ENST00000455702,;TNNT2,downstream_gene_variant,,ENST00000422165,;TNNT2,downstream_gene_variant,,ENST00000412633,;TNNT2,splice_region_variant,,ENST00000460780,;TNNT2,splice_region_variant,,ENST00000479297,;TNNT2,splice_region_variant,,ENST00000476888,;TNNT2,downstream_gene_variant,,ENST00000466570,;TNNT2,downstream_gene_variant,,ENST00000475686,;TNNT2,upstream_gene_variant,,ENST00000477035,;TNNT2,splice_region_variant,,ENST00000491504,;TNNT2,splice_region_variant,,ENST00000515042,;TNNT2,downstream_gene_variant,,ENST00000494095,;TNNT2,downstream_gene_variant,,ENST00000503459,;TNNT2,downstream_gene_variant,,ENST00000445079,;TNNT2,downstream_gene_variant,,ENST00000472177,;							MODERATE	585/882	K200N				Transcript		probably_damaging(0.991)	.	ENSP00000236918					1	
CHD1L	0	LGGM	GRCh37	1	146765348	146765348	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	110	20	.	.	ENST00000369258.4:c.2448G>A	p.Lys816=	p.K816=	ENST00000369258	NM_001256336.1	816	aaG/aaA	0	1	1	UPI000020566F	0		ENST00000369258		ENSG00000131778	1916		130			HGNC	p.K535K		CHD1L		SNV							ENST00000361293	protein_coding			PROSITE_profiles:PS51154,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF558,Superfamily_domains:SSF52949		K		A		2468/2967				B5MDZ7_HUMAN			YES	CHD1L,synonymous_variant,p.=,ENST00000369258,NM_001256336.1,NM_024568.2,NM_004284.4;CHD1L,synonymous_variant,p.=,ENST00000431239,;CHD1L,synonymous_variant,p.=,ENST00000361293,NM_001256337.1;CHD1L,synonymous_variant,p.=,ENST00000369259,NM_001256338.1;CHD1L,non_coding_transcript_exon_variant,,ENST00000467213,;							LOW	2448/2694		CHD1L_HUMAN			Transcript			.	ENSP00000358262		CCDS927.1			1	
TPM1	0	LGGM	GRCh37	15	63349206	63349206	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	126	22	.	.	ENST00000358278.3:c.263T>C	p.Leu88Pro	p.L88P	ENST00000358278	NM_001018006.1	88	cTg/cCg	0	1		UPI0000040637	0	getma.org/pdb.php?prot=TPM1_HUMAN&from=48&to=284&var=L88P	ENST00000403994		ENSG00000140416	12010		148	4.455		HGNC	p.L52P		TPM1		SNV			1				ENST00000317516	protein_coding	getma.org/?cm=var&var=hg19,15,63349206,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269,hmmpanther:PTHR19269:SF41,Gene3D:1.20.5.340,Pfam_domain:PF00261,Superfamily_domains:SSF57997,Prints_domain:PR00194		L/P		C	high	343/1049		getma.org/?cm=msa&ty=f&p=TPM1_HUMAN&rb=48&re=284&var=L88P	deleterious(0)	D9YZV4_HUMAN				TPM1,missense_variant,p.Leu130Pro,ENST00000357980,;TPM1,missense_variant,p.Leu88Pro,ENST00000358278,NM_001018006.1;TPM1,missense_variant,p.Leu88Pro,ENST00000267996,NM_001018007.1;TPM1,missense_variant,p.Leu88Pro,ENST00000559397,NM_001018020.1;TPM1,missense_variant,p.Leu52Pro,ENST00000334895,NM_001018008.1;TPM1,missense_variant,p.Leu52Pro,ENST00000404484,;TPM1,missense_variant,p.Leu88Pro,ENST00000288398,NM_000366.5;TPM1,missense_variant,p.Leu88Pro,ENST00000403994,NM_001018005.1;TPM1,missense_variant,p.Leu69Pro,ENST00000560970,;TPM1,missense_variant,p.Leu88Pro,ENST00000559556,NM_001018004.1;TPM1,missense_variant,p.Leu52Pro,ENST00000560959,;TPM1,missense_variant,p.Leu52Pro,ENST00000559281,;TPM1,missense_variant,p.Leu52Pro,ENST00000317516,;TPM1,missense_variant,p.Leu27Pro,ENST00000561266,;TPM1,5_prime_UTR_variant,,ENST00000560615,;TPM1,5_prime_UTR_variant,,ENST00000560679,;TPM1,intron_variant,,ENST00000560445,;TPM1,start_lost,p.Leu1?,ENST00000561395,;TPM1,missense_variant,p.Leu88Pro,ENST00000558347,;TPM1,missense_variant,p.Leu12Pro,ENST00000559831,;TPM1,5_prime_UTR_variant,,ENST00000558264,;TPM1,3_prime_UTR_variant,,ENST00000561425,;TPM1,non_coding_transcript_exon_variant,,ENST00000560975,;TPM1,non_coding_transcript_exon_variant,,ENST00000558314,;TPM1,non_coding_transcript_exon_variant,,ENST00000558400,;TPM1,non_coding_transcript_exon_variant,,ENST00000558868,;TPM1,intron_variant,,ENST00000558544,;TPM1,upstream_gene_variant,,ENST00000561242,;							MODERATE	263/855	L88P	TPM1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385107		CCDS45273.1			1	
PRG4	0	LGGM	GRCh37	1	186275492	186275492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080939	H080939N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	196	22	.	.	ENST00000445192.2:c.641C>A	p.Pro214His	p.P214H	ENST00000445192	NM_005807.3	214	cCc/cAc	0	1	1	UPI0000070EF9	0	NA	ENST00000445192		ENSG00000116690	9364		218	2.045		HGNC	p.P121H		PRG4		SNV			1				ENST00000367485	protein_coding	getma.org/?cm=var&var=hg19,1,186275492,C,A&fts=all		hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF1,Low_complexity_(Seg):seg		P/H		A	medium	686/5044		getma.org/?cm=msa&ty=f&p=PRG4_HUMAN&rb=203&re=259&var=P214H		B3KQ20_HUMAN			YES	PRG4,missense_variant,p.Pro214His,ENST00000445192,NM_005807.3;PRG4,missense_variant,p.Pro173His,ENST00000367483,NM_001127708.1;PRG4,missense_variant,p.Pro171His,ENST00000367486,;PRG4,missense_variant,p.Pro121His,ENST00000367485,NM_001127710.1,NM_001127709.1;PRG4,missense_variant,p.Pro173His,ENST00000367484,;PRG4,missense_variant,p.Pro80His,ENST00000367482,;PRG4,missense_variant,p.Pro123His,ENST00000533951,;							MODERATE	641/4215	P214H	PRG4_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000399679		CCDS1369.1			1	
CAPN13	0	LGGM	GRCh37	2	30975998	30975998	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H080939	H080939N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	132	25	.	.	ENST00000295055.8:c.1008C>G	p.Thr336=	p.T336=	ENST00000295055	NM_144575.2	336	acC/acG	0	1	1	UPI00000463E5	0		ENST00000295055		ENSG00000162949	16663		157			HGNC	p.T336T		CAPN13		SNV							ENST00000534090	protein_coding			hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:3.90.70.10,SMART_domains:SM00230,Superfamily_domains:SSF54001		T		C		1185/2683							YES	CAPN13,synonymous_variant,p.=,ENST00000295055,NM_144575.2;CAPN13,synonymous_variant,p.=,ENST00000534090,;CAPN13,downstream_gene_variant,,ENST00000465960,;CAPN13,synonymous_variant,p.=,ENST00000458085,;CAPN13,upstream_gene_variant,,ENST00000465450,;							LOW	1008/2010		CAN13_HUMAN			Transcript			.	ENSP00000295055		CCDS46252.1			1	
PDE7A	0	LGGM	GRCh37	8	66639439	66639439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	29	27	.	.	ENST00000401827.3:c.794T>C	p.Ile265Thr	p.I265T	ENST00000401827	NM_001242318.2	265	aTt/aCt	0	1	1	UPI0000127BFD	0	getma.org/pdb.php?prot=PDE7A_HUMAN&from=211&to=448&var=I265T	ENST00000401827		ENSG00000205268	8791		56	2.31		HGNC	p.I265T		PDE7A		SNV							ENST00000396642	protein_coding	getma.org/?cm=var&var=hg19,8,66639439,A,G&fts=all		Gene3D:1.10.1300.10,Pfam_domain:PF00233,Prints_domain:PR00387,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF96,SMART_domains:SM00471,Superfamily_domains:SSF109604		I/T		G	medium	1238/3673		getma.org/?cm=msa&ty=f&p=PDE7A_HUMAN&rb=211&re=448&var=I265T	deleterious(0.03)	Q86V65_HUMAN,Q7Z7I0_HUMAN			YES	PDE7A,missense_variant,p.Ile265Thr,ENST00000401827,NM_001242318.2;PDE7A,missense_variant,p.Ile265Thr,ENST00000396642,;PDE7A,missense_variant,p.Ile239Thr,ENST00000379419,NM_002603.3;MTFR1,intron_variant,,ENST00000521247,;MTFR1,intron_variant,,ENST00000527155,;PDE7A,non_coding_transcript_exon_variant,,ENST00000518667,;MTFR1,intron_variant,,ENST00000527553,;MTFR1,downstream_gene_variant,,ENST00000523158,;PDE7A,non_coding_transcript_exon_variant,,ENST00000522220,;							MODERATE	794/1449	I265T	PDE7A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000385632		CCDS56538.1			1	
MUC17	0	LGGM	GRCh37	7	100684276	100684276	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H080939	H080939N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	163	35	.	.	ENST00000306151.4:c.9579A>G	p.Thr3193=	p.T3193=	ENST00000306151	NM_001040105.1	3193	acA/acG	0	1	1	UPI0000D5BB56	0		ENST00000306151		ENSG00000169876	16800		198			HGNC	p.T3193T		MUC17		SNV							ENST00000379439	protein_coding			Low_complexity_(Seg):seg		T		G		9643/14241				A1A4F7_HUMAN			YES	MUC17,synonymous_variant,p.=,ENST00000306151,NM_001040105.1;MUC17,synonymous_variant,p.=,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;							LOW	9579/13482		MUC17_HUMAN			Transcript			.	ENSP00000302716		CCDS34711.1			1	
ATRX	0	LGGM	GRCh37	X	76937479	76937479	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080939	H080939N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080939N.bam, H080939T.bam	Illumina HiSeq	74	58	.	.	ENST00000373344.5:c.3269A>G	p.Glu1090Gly	p.E1090G	ENST00000373344	NM_000489.3	1090	gAg/gGg	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		132	1.04		HGNC	p.E1090G		ATRX		SNV			1				ENST00000373344	protein_coding	getma.org/?cm=var&var=hg19,X,76937479,T,C&fts=all		hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		E/G		C	low	3484/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=1010&re=1200&var=E1090G		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Glu1090Gly,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Glu1052Gly,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;							MODERATE	3269/7479	E1090G	ATRX_HUMAN			Transcript		benign(0.069)	.	ENSP00000362441		CCDS14434.1			1	
PICK1	0	LGGM	GRCh37	22	38465111	38465111	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	9	2	.	.	ENST00000404072.3:c.421C>A	p.Arg141=	p.R141=	ENST00000404072	NM_001039583.1	141	Cgg/Agg	0	1		UPI0000131A98	0		ENST00000356976		ENSG00000100151	9394		11			HGNC	p.R141R		PICK1		SNV							ENST00000404072	protein_coding			hmmpanther:PTHR12141,hmmpanther:PTHR12141:SF2,Pfam_domain:PF06456,Gene3D:1.20.1270.60,SMART_domains:SM01015		R		A		659/2055				F6VY12_HUMAN,F6V107_HUMAN,F6TII1_HUMAN				PICK1,synonymous_variant,p.=,ENST00000404072,NM_001039583.1,NM_001039584.1;PICK1,synonymous_variant,p.=,ENST00000356976,NM_012407.3;PICK1,synonymous_variant,p.=,ENST00000424694,;PICK1,downstream_gene_variant,,ENST00000435166,;PICK1,downstream_gene_variant,,ENST00000437453,;RP5-1039K5.13,intron_variant,,ENST00000445483,;PICK1,non_coding_transcript_exon_variant,,ENST00000468288,;PICK1,3_prime_UTR_variant,,ENST00000432756,;PICK1,3_prime_UTR_variant,,ENST00000426258,;PICK1,non_coding_transcript_exon_variant,,ENST00000484021,;PICK1,non_coding_transcript_exon_variant,,ENST00000494434,;PICK1,non_coding_transcript_exon_variant,,ENST00000472724,;PICK1,downstream_gene_variant,,ENST00000466374,;PICK1,downstream_gene_variant,,ENST00000469819,;							LOW	421/1248		PICK1_HUMAN			Transcript			.	ENSP00000349465		CCDS13965.1			1	
TPD52L2	0	LGGM	GRCh37	20	62500762	62500762	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	31	3	.	.	ENST00000217121.5:c.133G>C	p.Glu45Gln	p.E45Q	ENST00000217121	NM_199360.2	45	Gag/Cag	0	1		UPI0000136B41	0	NA	ENST00000346249		ENSG00000101150	12007		34	2.75		HGNC	p.E45Q		TPD52L2		SNV							ENST00000358548	protein_coding	getma.org/?cm=var&var=hg19,20,62500762,G,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04201,hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF13,Low_complexity_(Seg):seg		E/Q		C	medium	209/2297		getma.org/?cm=msa&ty=f&p=TPD54_HUMAN&rb=17&re=201&var=E45Q	deleterious(0.04)	Q6FGS1_HUMAN				TPD52L2,missense_variant,p.Glu45Gln,ENST00000217121,NM_199360.2;TPD52L2,missense_variant,p.Glu45Gln,ENST00000352482,NM_199362.2;TPD52L2,missense_variant,p.Glu45Gln,ENST00000351424,NM_199361.2;TPD52L2,missense_variant,p.Glu45Gln,ENST00000346249,NM_001243891.1,NM_003288.3;TPD52L2,missense_variant,p.Glu45Gln,ENST00000358548,NM_199363.2;TPD52L2,missense_variant,p.Glu45Gln,ENST00000348257,NM_199359.2;TPD52L2,missense_variant,p.Glu22Gln,ENST00000369927,NM_001243892.1;							MODERATE	133/621	E45Q	TPD54_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343547		CCDS13540.1			1	
MAPK15	0	LGGM	GRCh37	8	144801633	144801633	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	18	3	.	.	ENST00000338033.4:c.702C>A	p.Ile234=	p.I234=	ENST00000338033	NM_139021.2	234	atC/atA	0	1	1	UPI00000496E7	0		ENST00000338033		ENSG00000181085	24667		21			HGNC	p.I234I		MAPK15		SNV							ENST00000338033	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF79,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112		I		A		821/1961							YES	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,;							LOW	702/1635		MK15_HUMAN			Transcript			.	ENSP00000337691		CCDS6409.2			1	
SLC6A20	0	LGGM	GRCh37	3	45837829	45837829	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	10	3	.	.	ENST00000358525.4:c.83T>C	p.Val28Ala	p.V28A	ENST00000358525	NM_020208.3	28	gTg/gCg	0	1	1	UPI0000046064	0	getma.org/pdb.php?prot=S6A20_HUMAN&from=5&to=581&var=V28A	ENST00000358525		ENSG00000163817	30927		13	3.02		HGNC	p.V28A		SLC6A20		SNV			1				ENST00000456124	protein_coding	getma.org/?cm=var&var=hg19,3,45837829,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF44,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR00176		V/A		G	medium	199/5423		getma.org/?cm=msa&ty=f&p=S6A20_HUMAN&rb=5&re=581&var=V28A	deleterious(0.01)				YES	SLC6A20,missense_variant,p.Val28Ala,ENST00000358525,NM_020208.3;SLC6A20,missense_variant,p.Val28Ala,ENST00000353278,NM_022405.3;SLC6A20,missense_variant,p.Val28Ala,ENST00000456124,;SLC6A20,missense_variant,p.Val28Ala,ENST00000413781,;SLC6A20,non_coding_transcript_exon_variant,,ENST00000470226,;							MODERATE	83/1779	V28A	S6A20_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000346298		CCDS43077.1			1	
GGTLC2	0	LGGM	GRCh37	22	22988834	22988834	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	12	3	.	.	ENST00000480559.1:c.19G>A	p.Ala7Thr	p.A7T	ENST00000480559	NM_199127.2	7	Gct/Act	0	1	1	UPI00004210AD	0	getma.org/pdb.php?prot=GGTL2_HUMAN&from=1&to=213&var=A7T	ENST00000480559		ENSG00000100121	18596		15	3.22		HGNC	p.A7T	rs377189138	GGTLC2	0.000747	SNV	A:0						ENST00000480559	protein_coding	getma.org/?cm=var&var=hg19,22,22988834,G,A&fts=all	A:0	Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF1,Superfamily_domains:SSF56235		A/T	A:0.0001	A	medium	19/657	0.000408	getma.org/?cm=msa&ty=f&p=GGTL2_HUMAN&rb=1&re=213&var=A7T	deleterious(0.01)		A:0	A:0.0069	YES	GGTLC2,missense_variant,p.Ala7Thr,ENST00000448514,;GGTLC2,missense_variant,p.Ala7Thr,ENST00000480559,NM_199127.2;POM121L1P,upstream_gene_variant,,ENST00000402027,;GGTLC2,non_coding_transcript_exon_variant,,ENST00000417145,;POM121L1P,upstream_gene_variant,,ENST00000605258,;	0.00278	A:0.0014					MODERATE	19/657	A7T	GGTL2_HUMAN		A:0	Transcript		possibly_damaging(0.641)	common_variant	ENSP00000419751	0.000463	CCDS13802.2		A:0	1	
NRAP	0	LGGM	GRCh37	10	115381804	115381804	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	41	3	.	.	ENST00000359988.3:c.2593G>T	p.Glu865Ter	p.E865*	ENST00000359988	NM_001261463.1	865	Gag/Tag	0	1	1	UPI00001F9739	0	NA	ENST00000359988		ENSG00000197893	7988		44	0		HGNC	p.E838X		NRAP		SNV							ENST00000369360	protein_coding	getma.org/?cm=var&var=hg19,10,115381804,C,A&fts=all		SMART_domains:SM00227,Pfam_domain:PF00880,hmmpanther:PTHR11039,PROSITE_profiles:PS51216		E/*		A	NA	2838/5580		NA					YES	NRAP,stop_gained,p.Glu873Ter,ENST00000369358,;NRAP,stop_gained,p.Glu865Ter,ENST00000359988,NM_001261463.1,NM_198060.3;NRAP,stop_gained,p.Glu838Ter,ENST00000369360,;NRAP,stop_gained,p.Glu830Ter,ENST00000360478,NM_006175.4;							HIGH	2593/5193	E865*	NRAP_HUMAN			Transcript			.	ENSP00000353078		CCDS7579.1			1	
ENPEP	0	LGGM	GRCh37	4	111482619	111482619	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	28	3	.	.	ENST00000265162.5:c.2779C>A	p.Gln927Lys	p.Q927K	ENST00000265162	NM_001977.3	927	Caa/Aaa	0	1	1	UPI000013D5C6	0	getma.org/pdb.php?prot=AMPE_HUMAN&from=616&to=933&var=Q927K	ENST00000265162		ENSG00000138792	3355		31	2.025		HGNC	p.Q927K		ENPEP		SNV							ENST00000265162	protein_coding	getma.org/?cm=var&var=hg19,4,111482619,C,A&fts=all		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165		Q/K		A	medium	3121/6943		getma.org/?cm=msa&ty=f&p=AMPE_HUMAN&rb=616&re=933&var=Q927K	deleterious(0.02)				YES	ENPEP,missense_variant,p.Gln927Lys,ENST00000265162,NM_001977.3;ENPEP,non_coding_transcript_exon_variant,,ENST00000504100,;							MODERATE	2779/2874	Q927K	AMPE_HUMAN			Transcript		benign(0.33)	.	ENSP00000265162		CCDS3691.1			1	
GPR179	0	LGGM	GRCh37	17	36487316	36487316	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	13	3	.	.	ENST00000342292.4:c.2136C>T	p.Cys712=	p.C712=	ENST00000342292	NM_001004334.2	712	tgC/tgT	0	1	1	UPI000041A9C2	0		ENST00000342292		ENSG00000188888	31371		16			HGNC	p.C712C		GPR179		SNV			1				ENST00000342292	protein_coding			hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7		C		A		2157/7980							YES	GPR179,synonymous_variant,p.=,ENST00000342292,NM_001004334.2;GPR179,upstream_gene_variant,,ENST00000584976,;							LOW	2136/7104		GP179_HUMAN			Transcript			.	ENSP00000345060		CCDS42308.1			1	
LILRB3	0	LGGM	GRCh37	19	54725706	54725706	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	15	3	.	.	ENST00000245620.9:c.652C>A	p.Pro218Thr	p.P218T	ENST00000245620		218	Ccc/Acc	0	1	1	UPI0000E04BFA	0	getma.org/pdb.php?prot=LIRB3_HUMAN&from=111&to=229&var=P218T	ENST00000245620		ENSG00000204577	6607		18	0.69		HGNC	p.P218T		LILRB3		SNV							ENST00000391750	protein_coding	getma.org/?cm=var&var=hg19,19,54725706,G,T&fts=all		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32		P/T		T	neutral	654/2066		getma.org/?cm=msa&ty=f&p=LIRB3_HUMAN&rb=111&re=229&var=P218T	deleterious(0.02)	C9JWL8_HUMAN			YES	LILRB3,missense_variant,p.Pro218Thr,ENST00000391750,;LILRB3,missense_variant,p.Pro218Thr,ENST00000424807,NM_006864.2,NM_001081450.1;LILRB3,missense_variant,p.Pro218Thr,ENST00000346401,;LILRB3,missense_variant,p.Pro218Thr,ENST00000407860,;LILRB3,missense_variant,p.Pro218Thr,ENST00000245620,;LILRA6,intron_variant,,ENST00000440558,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,intron_variant,,ENST00000419410,;LILRA6,intron_variant,,ENST00000391735,;LILRB3,downstream_gene_variant,,ENST00000445347,;CTB-83J4.1,upstream_gene_variant,,ENST00000601161,;LILRB3,upstream_gene_variant,,ENST00000469273,;LILRB3,intron_variant,,ENST00000414379,;RPS9,intron_variant,,ENST00000448962,;LILRB3,downstream_gene_variant,,ENST00000468668,;LILRB3,upstream_gene_variant,,ENST00000460208,;LILRB3,upstream_gene_variant,,ENST00000436504,;							MODERATE	652/1899	P218T	LIRB3_HUMAN			Transcript		benign(0.205)	.	ENSP00000245620		CCDS46175.1			1	
FAT2	0	LGGM	GRCh37	5	150946223	150946223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	35	3	.	.	ENST00000261800.5:c.2270G>T	p.Gly757Val	p.G757V	ENST00000261800	NM_001447.2	757	gGc/gTc	0	1	1	UPI0000055B22	0	getma.org/pdb.php?prot=FAT2_HUMAN&from=720&to=811&var=G757V	ENST00000261800		ENSG00000086570	3596		38	2.81		HGNC	p.G757V		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150946223,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/V		A	medium	2283/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=720&re=811&var=G757V					YES	FAT2,missense_variant,p.Gly757Val,ENST00000261800,NM_001447.2;							MODERATE	2270/13050	G757V	FAT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261800		CCDS4317.1			1	
LRIT3	0	LGGM	GRCh37	4	110791603	110791603	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	28	3	.	.	ENST00000594814.1:c.1698C>A	p.Cys566Ter	p.C566*	ENST00000594814	NM_198506.4	566	tgC/tgA	0	1	1	UPI0000F07E94	0	NA	ENST00000594814		ENSG00000183423	24783		31	0		HGNC	p.C566X		LRIT3		SNV			1				ENST00000594814	protein_coding	getma.org/?cm=var&var=hg19,4,110791603,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR24367:SF236,hmmpanther:PTHR24367		C/*		A	NA	1698/3566		NA					YES	LRIT3,stop_gained,p.Cys383Ter,ENST00000327908,;LRIT3,stop_gained,p.Cys521Ter,ENST00000379920,;LRIT3,stop_gained,p.Cys566Ter,ENST00000594814,NM_198506.4;LRIT3,stop_gained,p.Cys383Ter,ENST00000409621,;							HIGH	1698/2040	C521*	LRIT3_HUMAN			Transcript			.	ENSP00000469759		CCDS3688.3			1	
ASB1	0	LGGM	GRCh37	2	239344626	239344626	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	4	5	.	.	ENST00000264607.4:c.466C>T	p.Arg156Trp	p.R156W	ENST00000264607	NM_001040445.1	156	Cgg/Tgg	0	1	1	UPI000004A4F2	0	NA	ENST00000264607		ENSG00000065802	16011	9.08E-05	9	1.95		HGNC	p.R156W	rs750145420	ASB1		SNV							ENST00000264607	protein_coding	getma.org/?cm=var&var=hg19,2,239344626,C,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24181,hmmpanther:PTHR24181:SF21,SMART_domains:SM00248,Superfamily_domains:SSF48403		R/W		T	medium	713/6994	3.24E-05	getma.org/?cm=msa&ty=f&p=ASB1_HUMAN&rb=148&re=267&var=R156W	deleterious(0.01)				YES	ASB1,missense_variant,p.Arg156Trp,ENST00000264607,NM_001040445.1;ASB1,intron_variant,,ENST00000409297,;ASB1,non_coding_transcript_exon_variant,,ENST00000463352,;ASB1,intron_variant,,ENST00000468122,;ASB1,downstream_gene_variant,,ENST00000469885,;ASB1,3_prime_UTR_variant,,ENST00000438264,;ASB1,non_coding_transcript_exon_variant,,ENST00000491653,;							MODERATE	466/1008	R156W	ASB1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000264607	3.30E-05	CCDS33416.1			1	
AC007401.2	0	LGGM	GRCh37	2	36779240	36779240	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	84	5	.	.	ENST00000406220.1:c.23G>A	p.Gly8Glu	p.G8E	ENST00000406220		8	gGa/gAa	0	1	1	UPI0000208259	0		ENST00000406220		ENSG00000217075			89			Clone_based_vega_gene	p.G8E	rs778959557	AC007401.2		SNV							ENST00000406220	protein_coding			Low_complexity_(Seg):seg		G/E		T		172/430	0.000662			B5MCU5_HUMAN			YES	AC007401.2,missense_variant,p.Gly8Glu,ENST00000406220,;CRIM1,downstream_gene_variant,,ENST00000280527,NM_016441.2;FEZ2,downstream_gene_variant,,ENST00000379245,NM_001042548.1;FEZ2,downstream_gene_variant,,ENST00000405912,NM_005102.2;FEZ2,downstream_gene_variant,,ENST00000305852,;FEZ2,downstream_gene_variant,,ENST00000441005,;FEZ2,downstream_gene_variant,,ENST00000357996,;FEZ2,downstream_gene_variant,,ENST00000487919,;FEZ2,downstream_gene_variant,,ENST00000487282,;FEZ2,downstream_gene_variant,,ENST00000464964,;FEZ2,3_prime_UTR_variant,,ENST00000414288,;FEZ2,downstream_gene_variant,,ENST00000475815,;FEZ2,downstream_gene_variant,,ENST00000413938,;FEZ2,downstream_gene_variant,,ENST00000451623,;FEZ2,downstream_gene_variant,,ENST00000432869,;FEZ2,downstream_gene_variant,,ENST00000484205,;							MODERATE	23/228					Transcript		unknown(0)	common_variant	ENSP00000385370	0.000177				1	
GDPD2	0	LGGM	GRCh37	X	69646515	69646515	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	4	6	.	.	ENST00000453994.2:c.480T>C	p.Leu160=	p.L160=	ENST00000453994	NM_001171192.1	160	ctT/ctC	0	1		UPI000004C627	0		ENST00000374382		ENSG00000130055	25974		10			HGNC	p.L160L		GDPD2		SNV							ENST00000453994	protein_coding			hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF1,Transmembrane_helices:TMhelix		L		C		731/2169								GDPD2,synonymous_variant,p.=,ENST00000453994,NM_001171192.1;GDPD2,synonymous_variant,p.=,ENST00000536730,NM_001171193.1;GDPD2,synonymous_variant,p.=,ENST00000374382,NM_017711.3;GDPD2,synonymous_variant,p.=,ENST00000538649,NM_001171191.1;GDPD2,intron_variant,,ENST00000472623,;							LOW	480/1620		GDPD2_HUMAN			Transcript			.	ENSP00000363503		CCDS14402.1			1	
QSOX1	0	LGGM	GRCh37	1	180151451	180151451	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	102	6	.	.	ENST00000367602.3:c.749C>G	p.Pro250Arg	p.P250R	ENST00000367602		250	cCc/cGc	0	1	1	UPI000004C63C	0	getma.org/pdb.php?prot=QSOX1_HUMAN&from=150&to=349&var=P250R	ENST00000367602		ENSG00000116260	9756		108	1.845		HGNC	p.P250R		QSOX1		SNV							ENST00000367600	protein_coding	getma.org/?cm=var&var=hg19,1,180151451,C,G&fts=all		hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF6		P/R		G	low	823/9311		getma.org/?cm=msa&ty=f&p=QSOX1_HUMAN&rb=150&re=349&var=P250R	deleterious(0.03)				YES	QSOX1,missense_variant,p.Pro250Arg,ENST00000367602,;QSOX1,missense_variant,p.Pro250Arg,ENST00000367600,NM_002826.4,NM_001004128.2;QSOX1,3_prime_UTR_variant,,ENST00000392029,;							MODERATE	749/2244	P250R	QSOX1_HUMAN			Transcript		benign(0.062)	.	ENSP00000356574		CCDS1337.1			1	
FLG	0	LGGM	GRCh37	1	152275310	152275310	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	127	7	.	.	ENST00000368799.1:c.12052A>T	p.Ser4018Cys	p.S4018C	ENST00000368799	NM_002016.1	4018	Agt/Tgt	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		134	1.1		HGNC	p.S4018C		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152275310,T,A&fts=all				S/C		A	low	12088/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3873&re=4061&var=S4018C		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Ser4018Cys,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	12052/12186	S4018C	FILA_HUMAN			Transcript		unknown(0)	.	ENSP00000357789		CCDS30860.1			1	
KDM5C	0	LGGM	GRCh37	X	53223745	53223745	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	8	7	.	.	ENST00000375401.3:c.3614G>A	p.Cys1205Tyr	p.C1205Y	ENST00000375401	NM_004187.3	1205	tGt/tAt	0	1	1	UPI000013CBE3	0	getma.org/pdb.php?prot=KDM5C_HUMAN&from=1101&to=1300&var=C1205Y	ENST00000375401		ENSG00000126012	11114		15	3.665		HGNC	p.C1205Y		KDM5C		SNV			1				ENST00000375379	protein_coding	getma.org/?cm=var&var=hg19,X,53223745,C,T&fts=all		hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,PROSITE_patterns:PS01359,Pfam_domain:PF00628,Gene3D:3.30.40.10,SMART_domains:SM00249,Superfamily_domains:SSF57903		C/Y		T	high	4147/6031		getma.org/?cm=msa&ty=f&p=KDM5C_HUMAN&rb=1101&re=1300&var=C1205Y	deleterious(0)				YES	KDM5C,missense_variant,p.Cys1138Tyr,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Cys1205Tyr,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Cys1204Tyr,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Cys1205Tyr,ENST00000375379,;KDM5C,missense_variant,p.Cys1164Tyr,ENST00000375383,;KDM5C,downstream_gene_variant,,ENST00000477109,;KDM5C,downstream_gene_variant,,ENST00000497100,;							MODERATE	3614/4683	C1205Y	KDM5C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364550		CCDS14351.1			1	
FAM35A	0	LGGM	GRCh37	10	88911952	88911952	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	18	7	.	.	ENST00000298784.1:c.841G>A	p.Gly281Arg	p.G281R	ENST00000298784	NM_019054.2	281	Ggg/Agg	0	1	1	UPI000013E51A	0	NA	ENST00000298784		ENSG00000122376	28773	0.00051	25	0.535		HGNC	p.G281R	rs565758997	FAM35A	0.000188	SNV				0.00183			ENST00000298784	protein_coding	getma.org/?cm=var&var=hg19,10,88911952,G,A&fts=all	A:0.0015	hmmpanther:PTHR14495,hmmpanther:PTHR14495:SF1		G/R		A	neutral	955/3402	0.000188	getma.org/?cm=msa&ty=f&p=FA35B_HUMAN&rb=201&re=350&var=G281R	tolerated(0.38)	U3KQ89_HUMAN	A:0.0014	A:0	YES	FAM35A,missense_variant,p.Gly281Arg,ENST00000298786,;FAM35A,missense_variant,p.Gly281Arg,ENST00000298784,NM_019054.2;FAM35A,downstream_gene_variant,,ENST00000437629,;RN7SL733P,downstream_gene_variant,,ENST00000582253,;		A:0.0006					MODERATE	841/2508	G281R	FA35A_HUMAN		A:0	Transcript		benign(0.132)	common_variant	ENSP00000298784	0.000223	CCDS7383.1	0.00141	A:0	1	
CPA2	0	LGGM	GRCh37	7	129912920	129912920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	21	8	.	.	ENST00000222481.4:c.389C>T	p.Ser130Phe	p.S130F	ENST00000222481	NM_001869.2	130	tCc/tTc	0	1	1	UPI00005A7711	0	getma.org/pdb.php?prot=CBPA2_HUMAN&from=129&to=406&var=S130F	ENST00000222481		ENSG00000158516	2297		29	-0.08		HGNC	p.S128F		CPA2		SNV							ENST00000416698	protein_coding	getma.org/?cm=var&var=hg19,7,129912920,C,T&fts=all		hmmpanther:PTHR11705:SF50,hmmpanther:PTHR11705,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		S/F		T	neutral	444/1366		getma.org/?cm=msa&ty=f&p=CBPA2_HUMAN&rb=129&re=406&var=S130F	tolerated(0.09)				YES	CPA2,missense_variant,p.Ser130Phe,ENST00000222481,NM_001869.2;CPA2,missense_variant,p.Ser128Phe,ENST00000416698,;CPA2,non_coding_transcript_exon_variant,,ENST00000487259,;CPA2,non_coding_transcript_exon_variant,,ENST00000480781,;							MODERATE	389/1260	S130F	CBPA2_HUMAN			Transcript		benign(0.011)	.	ENSP00000222481		CCDS5817.2			1	
HAPSTR1	0	LGGM	GRCh37	16	9210753	9210753	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	40	9	.	.	ENST00000327827.7:c.812G>A	p.Arg271His	p.R271H	ENST00000327827	NM_014117.2	271	cGc/cAc	0	1	1	UPI00001E0574	0	NA	ENST00000327827		ENSG00000182831	30103		49	2.395		HGNC	p.R271H		C16orf72		SNV							ENST00000327827	protein_coding	getma.org/?cm=var&var=hg19,16,9210753,G,A&fts=all		hmmpanther:PTHR31624:SF3,hmmpanther:PTHR31624,Pfam_domain:PF15251		R/H		A	medium	1209/5953		getma.org/?cm=msa&ty=f&p=CP072_HUMAN&rb=1&re=273&var=R271H	deleterious(0)				YES	C16orf72,missense_variant,p.Arg271His,ENST00000327827,NM_014117.2;RP11-473I1.10,downstream_gene_variant,,ENST00000574616,;							MODERATE	812/828	R271H	CP072_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000331720		CCDS10538.1			1	
SMC1A	0	LGGM	GRCh37	X	53409223	53409223	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	15	11	.	.	ENST00000322213.4:c.3367C>T	p.Arg1123Trp	p.R1123W	ENST00000322213	NM_001281463.1	1123	Cgg/Tgg	0	1	1	UPI0000135A4D	0	getma.org/pdb.php?prot=SMC1A_HUMAN&from=3&to=1212&var=R1123W	ENST00000322213		ENSG00000072501	11111		26	2.795		HGNC	p.R1123W		SMC1A		SNV			1				ENST00000322213	protein_coding	getma.org/?cm=var&var=hg19,X,53409223,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF170,Superfamily_domains:SSF52540		R/W		A	medium	3495/9784		getma.org/?cm=msa&ty=f&p=SMC1A_HUMAN&rb=3&re=1212&var=R1123W	deleterious(0.02)				YES	SMC1A,missense_variant,p.Arg1123Trp,ENST00000322213,NM_001281463.1,NM_006306.3;SMC1A,missense_variant,p.Arg220Trp,ENST00000470241,;SMC1A,non_coding_transcript_exon_variant,,ENST00000469129,;							MODERATE	3367/3702	R1123W	SMC1A_HUMAN			Transcript		possibly_damaging(0.727)	.	ENSP00000323421		CCDS14352.1			1	
GTPBP1	0	LGGM	GRCh37	22	39123264	39123288	+	frameshift_variant	Frame_Shift_Del	DEL	GTTTGAATCCCCAAGCCTCCTGGGA	GTTTGAATCCCCAAGCCTCCTGGGA	-	novel	by Submitter	H080971	H080971N.bam	GTTTGAATCCCCAAGCCTCCTGGGA	GTTTGAATCCCCAAGCCTCCTGGGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	36	12	.	.	ENST00000216044.5:c.1454_1478del	p.Asn485ArgfsTer33	p.N485Rfs*33	ENST00000216044	NM_004286.4	483	cGTTTGAATCCCCAAGCCTCCTGGGAg/cg	0	1	1	UPI00005EDDA0	0		ENST00000216044		ENSG00000100226	4669		48			HGNC	p.61_69del		GTPBP1		deletion							ENST00000458073	protein_coding			Gene3D:2.40.30.10,Pfam_domain:PF03143,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF96,Superfamily_domains:SSF50465		RLNPQASWE/X		-		1681-1705/5126				F5H7C0_HUMAN,F5H716_HUMAN,F5H257_HUMAN			YES	GTPBP1,frameshift_variant,p.Asn485ArgfsTer33,ENST00000216044,NM_004286.4;GTPBP1,frameshift_variant,p.Asn63ArgfsTer33,ENST00000458073,;GTPBP1,downstream_gene_variant,,ENST00000460605,;GTPBP1,upstream_gene_variant,,ENST00000462332,;GTPBP1,upstream_gene_variant,,ENST00000484971,;GTPBP1,downstream_gene_variant,,ENST00000475959,;PRDX3P1,upstream_gene_variant,,ENST00000418695,;AL021707.2,upstream_gene_variant,,ENST00000544928,;							HIGH	1448-1472/2010		GTPB1_HUMAN			Transcript	6		.	ENSP00000216044		CCDS13977.2			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H080971	H080971N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	34	32	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		66			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
GCKR	0	LGGM	GRCh37	2	27731081	27731081	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	32	14	.	.	ENST00000264717.2:c.1385C>T	p.Pro462Leu	p.P462L	ENST00000264717	NM_001486.3	462	cCa/cTa	0	1	1	UPI000013D55B	0	NA	ENST00000264717		ENSG00000084734	4196		46	1.78		HGNC	p.P462L		GCKR		SNV			1				ENST00000264717	protein_coding	getma.org/?cm=var&var=hg19,2,27731081,C,T&fts=all		PROSITE_profiles:PS51464,hmmpanther:PTHR10088,Gene3D:3.40.50.10490,Superfamily_domains:SSF53697		P/L		T	low	1448/2186		getma.org/?cm=msa&ty=f&p=GCKR_HUMAN&rb=320&re=499&var=P462L	deleterious(0.01)	F5H1P6_HUMAN			YES	GCKR,missense_variant,p.Pro462Leu,ENST00000264717,NM_001486.3;GCKR,missense_variant,p.Pro272Leu,ENST00000424318,;GCKR,missense_variant,p.Pro163Leu,ENST00000411584,;GCKR,downstream_gene_variant,,ENST00000472290,;GCKR,downstream_gene_variant,,ENST00000478147,;							MODERATE	1385/1878	P462L	GCKR_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000264717		CCDS1757.1			1	
FBXO18	0	LGGM	GRCh37	10	5945123	5945123	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	29	14	.	.	ENST00000379999.5:c.295A>G	p.Lys99Glu	p.K99E	ENST00000379999	NM_032807.4	99	Aaa/Gaa	0	1		UPI000019AB70	0	NA	ENST00000362091		ENSG00000134452	13620		43	1.32		HGNC	p.K99E		FBXO18		SNV							ENST00000379999	protein_coding	getma.org/?cm=var&var=hg19,10,5945123,A,G&fts=all				K/E		G	low	257/3560		getma.org/?cm=msa&ty=f&p=FBX18_HUMAN&rb=1&re=187&var=K48E	tolerated(0.08)	Q66K33_HUMAN,Q2TAK1_HUMAN				FBXO18,missense_variant,p.Lys99Glu,ENST00000379999,NM_032807.4;FBXO18,missense_variant,p.Lys48Glu,ENST00000362091,NM_001258453.1,NM_178150.2;FBXO18,5_prime_UTR_variant,,ENST00000397269,NM_001258452.1;FBXO18,non_coding_transcript_exon_variant,,ENST00000462507,;FBXO18,intron_variant,,ENST00000470089,;FBXO18,upstream_gene_variant,,ENST00000469009,;FBXO18,upstream_gene_variant,,ENST00000494526,;							MODERATE	142/3132	K48E	FBX18_HUMAN			Transcript		benign(0.092)	.	ENSP00000355415		CCDS7072.1			1	
TRAPPC13	0	LGGM	GRCh37	5	64931189	64931189	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	26	15	.	.	ENST00000438419.2:c.108C>T	p.Asp36=	p.D36=	ENST00000438419		36	gaC/gaT	0	1		UPI000020C82F	0		ENST00000399438		ENSG00000113597	25828		41			HGNC	p.D36D	rs780208395	TRAPPC13	6.11E-05	SNV							ENST00000505553	protein_coding			hmmpanther:PTHR13134,hmmpanther:PTHR13134:SF3		D		T		453/3221								TRAPPC13,synonymous_variant,p.=,ENST00000399438,NM_001093755.1,NM_024941.3;TRAPPC13,synonymous_variant,p.=,ENST00000545191,;TRAPPC13,synonymous_variant,p.=,ENST00000231526,NM_001243737.1,NM_001093756.1;TRAPPC13,synonymous_variant,p.=,ENST00000438419,;TRAPPC13,synonymous_variant,p.=,ENST00000505553,;CTC-534A2.2,downstream_gene_variant,,ENST00000510585,;TRAPPC13,synonymous_variant,p.=,ENST00000504243,;TRAPPC13,synonymous_variant,p.=,ENST00000504751,;TRAPPC13,non_coding_transcript_exon_variant,,ENST00000512009,;TRAPPC13,non_coding_transcript_exon_variant,,ENST00000508304,;							LOW	108/1254		TPC13_HUMAN			Transcript			.	ENSP00000382367	8.28E-06	CCDS47222.1			1	
OR6T1	0	LGGM	GRCh37	11	123814098	123814098	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	15	15	.	.	ENST00000321252.2:c.448C>T	p.Leu150=	p.L150=	ENST00000321252	NM_001005187.1	150	Cta/Tta	0	1	1	UPI0000040A85	0		ENST00000321252		ENSG00000181499	14848		30			HGNC	p.L150L		OR6T1		SNV							ENST00000321252	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF91,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		483/1089							YES	OR6T1,synonymous_variant,p.=,ENST00000321252,NM_001005187.1;OR4D5,downstream_gene_variant,,ENST00000307033,NM_001001965.1;							LOW	448/972		OR6T1_HUMAN			Transcript			.	ENSP00000325203		CCDS31700.1			1	
FCHSD2	0	LGGM	GRCh37	11	72696160	72696160	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	15	17	.	.	ENST00000409418.4:c.523T>C	p.Ser175Pro	p.S175P	ENST00000409418	NM_014824.2	175	Tct/Cct	0	1	1	UPI0000251F08	0	NA	ENST00000409418		ENSG00000137478	29114		32	1.61		HGNC	p.S15P		FCHSD2		SNV							ENST00000458644	protein_coding	getma.org/?cm=var&var=hg19,11,72696160,A,G&fts=all		Superfamily_domains:SSF103657,hmmpanther:PTHR15735,hmmpanther:PTHR15735:SF9		S/P		G	low	907/3154		getma.org/?cm=msa&ty=f&p=FCSD2_HUMAN&rb=109&re=308&var=S175P	deleterious(0.01)	C9JM66_HUMAN			YES	FCHSD2,missense_variant,p.Ser175Pro,ENST00000409314,;FCHSD2,missense_variant,p.Ser119Pro,ENST00000311172,;FCHSD2,missense_variant,p.Ser175Pro,ENST00000409418,NM_014824.2;FCHSD2,missense_variant,p.Ser15Pro,ENST00000458644,;FCHSD2,missense_variant,p.Ser119Pro,ENST00000409853,;FCHSD2,missense_variant,p.Ser18Pro,ENST00000543644,;FCHSD2,downstream_gene_variant,,ENST00000422375,;							MODERATE	523/2223	S175P	FCSD2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000386722		CCDS8218.2			1	
HMCN1	0	LGGM	GRCh37	1	185958698	185958698	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	53	17	.	.	ENST00000271588.4:c.3127G>A	p.Gly1043Arg	p.G1043R	ENST00000271588	NM_031935.2	1043	Gga/Aga	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=981&to=1068&var=G1043R	ENST00000271588		ENSG00000143341	19194		70	-0.41		HGNC	p.G1043R		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185958698,G,A&fts=all		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		G/R		A	neutral	3356/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=981&re=1068&var=G1043R					YES	HMCN1,missense_variant,p.Gly1043Arg,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Gly1043Arg,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;							MODERATE	3127/16908	G1043R	HMCN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000271588		CCDS30956.1			1	
TENM2	0	LGGM	GRCh37	5	167489068	167489068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	22	19	.	.	ENST00000518659.1:c.1313C>A	p.Pro438His	p.P438H	ENST00000518659	NM_001122679.1	438	cCc/cAc	0	1	1	UPI0001C48FC2	0	NA	ENST00000518659		ENSG00000145934	29943		41	1.39		HGNC	p.P206H		TENM2		SNV							ENST00000520394	protein_coding	getma.org/?cm=var&var=hg19,5,167489068,C,A&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8		P/H		A	low	1352/8550		getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=375&re=574&var=P438H	deleterious(0.03)	G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,missense_variant,p.Pro317His,ENST00000519204,;TENM2,missense_variant,p.Pro271His,ENST00000403607,;TENM2,missense_variant,p.Pro438His,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Pro438His,ENST00000545108,;TENM2,missense_variant,p.Pro206His,ENST00000520394,;							MODERATE	1313/8325	P438H	TEN2_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000429430					1	
INTS5	0	LGGM	GRCh37	11	62415956	62415956	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	19	19	.	.	ENST00000330574.2:c.1596G>T	p.Leu532Phe	p.L532F	ENST00000330574	NM_030628.1	532	ttG/ttT	0	1	1	UPI0000161948	0	NA	ENST00000330574		ENSG00000185085	29352		38	0.805		HGNC	p.L532F		INTS5		SNV							ENST00000330574	protein_coding	getma.org/?cm=var&var=hg19,11,62415956,C,A&fts=all		Pfam_domain:PF14838,hmmpanther:PTHR31697,hmmpanther:PTHR31697:SF2		L/F		A	low	1649/3285		getma.org/?cm=msa&ty=f&p=INT5_HUMAN&rb=472&re=549&var=L532F	deleterious(0.01)				YES	INTS5,missense_variant,p.Leu532Phe,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,;							MODERATE	1596/3060	L532F	INT5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000327889		CCDS8027.1			1	
CUL9	0	LGGM	GRCh37	6	43164543	43164543	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	35	19	.	.	ENST00000252050.4:c.2746A>G	p.Ile916Val	p.I916V	ENST00000252050	NM_015089.2	916	Atc/Gtc	0	1	1	UPI000006F22F	0	NA	ENST00000252050		ENSG00000112659	15982		54	0.69		HGNC	p.I806V		CUL9		SNV							ENST00000354495	protein_coding	getma.org/?cm=var&var=hg19,6,43164543,A,G&fts=all		hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771		I/V		G	neutral	2830/7780		getma.org/?cm=msa&ty=f&p=CUL9_HUMAN&rb=842&re=1041&var=I916V	tolerated(0.1)				YES	CUL9,missense_variant,p.Ile916Val,ENST00000252050,NM_015089.2;CUL9,missense_variant,p.Ile916Val,ENST00000372647,;CUL9,missense_variant,p.Ile806Val,ENST00000354495,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;							MODERATE	2746/7554	I916V	CUL9_HUMAN			Transcript		benign(0.002)	.	ENSP00000252050		CCDS4890.1			1	
DTNA	0	LGGM	GRCh37	18	32462031	32462031	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	32	20	.	.	ENST00000598334.1:c.1902-2A>T		p.X634_splice	ENST00000598334	NM_001198938.1			0	1		UPI000013DD3C	0		ENST00000399113		ENSG00000134769	3057		52			HGNC	-		DTNA		SNV			1				ENST00000283365	protein_coding							T		-/2232				M0R0C4_HUMAN,K7ERZ2_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN				DTNA,splice_acceptor_variant,,ENST00000283365,NM_032975.3;DTNA,splice_acceptor_variant,,ENST00000399121,NM_001198939.1;DTNA,splice_acceptor_variant,,ENST00000444659,NM_001390.4;DTNA,splice_acceptor_variant,,ENST00000269190,;DTNA,splice_acceptor_variant,,ENST00000399097,;DTNA,splice_acceptor_variant,,ENST00000595022,NM_001198940.1;DTNA,splice_acceptor_variant,,ENST00000598334,NM_001198938.1;DTNA,splice_acceptor_variant,,ENST00000598142,;DTNA,splice_acceptor_variant,,ENST00000399113,;DTNA,splice_acceptor_variant,,ENST00000269192,NM_001198942.1;DTNA,splice_acceptor_variant,,ENST00000601125,NM_001198943.1;DTNA,splice_acceptor_variant,,ENST00000591182,NM_032980.3;DTNA,splice_acceptor_variant,,ENST00000556414,NM_001198944.1;DTNA,splice_acceptor_variant,,ENST00000590831,;DTNA,upstream_gene_variant,,ENST00000592449,;							HIGH	2082/2232		DTNA_HUMAN			Transcript			.	ENSP00000382064					1	
KDSR	0	LGGM	GRCh37	18	61002566	61002566	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	26	20	.	.	ENST00000406396.3:c.803G>A	p.Gly268Asp	p.G268D	ENST00000406396	NM_002035.2	268	gGc/gAc	0	1	1	UPI000004C798	0	NA	ENST00000406396		ENSG00000119537	4021		46	2.41		HGNC	p.G268D		KDSR		SNV							ENST00000406396	protein_coding	getma.org/?cm=var&var=hg19,18,61002566,C,T&fts=all		PIRSF_domain:PIRSF000126,hmmpanther:PTHR24320:SF1,hmmpanther:PTHR24320		G/D		T	medium	1195/5447		getma.org/?cm=msa&ty=f&p=KDSR_HUMAN&rb=206&re=332&var=G268D	deleterious(0)				YES	KDSR,missense_variant,p.Gly268Asp,ENST00000406396,NM_002035.2;KDSR,missense_variant,p.Gly204Asp,ENST00000326575,;KDSR,intron_variant,,ENST00000591902,;KDSR,non_coding_transcript_exon_variant,,ENST00000589592,;KDSR,non_coding_transcript_exon_variant,,ENST00000586791,;KDSR,non_coding_transcript_exon_variant,,ENST00000588089,;							MODERATE	803/999	G268D	KDSR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385083		CCDS11982.1			1	
PAPPA2	0	LGGM	GRCh37	1	176526103	176526103	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	103	21	.	.	ENST00000367662.3:c.645C>G	p.Ile215Met	p.I215M	ENST00000367662	NM_020318.2	215	atC/atG	0	1	1	UPI000004A835	0	NA	ENST00000367662		ENSG00000116183	14615		124	0.69		HGNC	p.I215M		PAPPA2		SNV							ENST00000367661	protein_coding	getma.org/?cm=var&var=hg19,1,176526103,C,G&fts=all		Superfamily_domains:SSF49899		I/M		G	neutral	1809/9685		getma.org/?cm=msa&ty=f&p=PAPP2_HUMAN&rb=1&re=259&var=I215M	tolerated(0.23)				YES	PAPPA2,missense_variant,p.Ile215Met,ENST00000367662,NM_020318.2;PAPPA2,missense_variant,p.Ile215Met,ENST00000367661,NM_021936.2;PAPPA2,downstream_gene_variant,,ENST00000486075,;PAPPA2,downstream_gene_variant,,ENST00000493665,;							MODERATE	645/5376	I215M	PAPP2_HUMAN			Transcript		benign(0.101)	.	ENSP00000356634		CCDS41438.1			1	
KCNQ4	0	LGGM	GRCh37	1	41285132	41285132	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	6	21	.	.	ENST00000347132.5:c.822C>G	p.Leu274=	p.L274=	ENST00000347132	NM_004700.3	274	ctC/ctG	0	1	1	UPI000013D35B	0		ENST00000347132		ENSG00000117013	6298		27			HGNC	p.L274L		KCNQ4		SNV			1				ENST00000509682	protein_coding			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF4,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169		L		G		904/4099							YES	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,;							LOW	822/2088		KCNQ4_HUMAN			Transcript			.	ENSP00000262916		CCDS456.1			1	
SPG7	0	LGGM	GRCh37	16	89615487	89615487	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	1	22	.	.	ENST00000268704.2:c.1663+966A>G		*555*	ENST00000268704	NM_003119.2			0	1	1	UPI0000031FAA	0		ENST00000268704		ENSG00000197912	11237		23			HGNC	-		SPG7		SNV			1				ENST00000566221	protein_coding							G		-/3076							YES	SPG7,intron_variant,,ENST00000268704,NM_003119.2;SPG7,upstream_gene_variant,,ENST00000566682,;SPG7,splice_acceptor_variant,,ENST00000566221,;SPG7,3_prime_UTR_variant,,ENST00000569820,;SPG7,non_coding_transcript_exon_variant,,ENST00000565370,;SPG7,intron_variant,,ENST00000561911,;SPG7,upstream_gene_variant,,ENST00000561702,;SPG7,upstream_gene_variant,,ENST00000569720,;SPG7,downstream_gene_variant,,ENST00000563218,;SPG7,upstream_gene_variant,,ENST00000568205,;SPG7,downstream_gene_variant,,ENST00000561945,;							MODIFIER	-/2388		SPG7_HUMAN			Transcript			.	ENSP00000268704		CCDS10977.1			1	
FAM9A	0	LGGM	GRCh37	X	8764336	8764336	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	39	24	.	.	ENST00000543214.1:c.461G>A	p.Arg154His	p.R154H	ENST00000543214	NM_001171186.1	154	cGt/cAt	0	1		UPI000012A418	0	NA	ENST00000381003		ENSG00000183304	18403		63	-0.145		HGNC	p.R154H	rs746795541	FAM9A		SNV							ENST00000381003	protein_coding	getma.org/?cm=var&var=hg19,X,8764336,C,T&fts=all	T:0	hmmpanther:PTHR19368:SF2,hmmpanther:PTHR19368		R/H		T	neutral	572/1519		getma.org/?cm=msa&ty=f&p=FAM9A_HUMAN&rb=1&re=189&var=R154H	tolerated_low_confidence(0.39)		T:0	T:0.001		FAM9A,missense_variant,p.Arg154His,ENST00000543214,NM_001171186.1;FAM9A,missense_variant,p.Arg154His,ENST00000381003,NM_174951.3;	0.000208	T:0.0003					MODERATE	461/999	R154H	FAM9A_HUMAN		T:0	Transcript		possibly_damaging(0.659)	.	ENSP00000370391	8.25E-06	CCDS14131.1		T:0	1	
WT1	0	LGGM	GRCh37	11	32410611	32410611	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	25	26	.	.	ENST00000332351.3:c.1547C>T	p.Ala516Val	p.A516V	ENST00000332351	NM_024426.4	516	gCg/gTg	0	1	1	UPI0000D625D7	0	getma.org/pdb.php?prot=WT1_HUMAN&from=428&to=449&var=A448V	ENST00000332351		ENSG00000184937	12796		51	1.625		HGNC	p.A287V	rs749266841	WT1	0.000242	SNV			1				ENST00000530998	protein_coding	getma.org/?cm=var&var=hg19,11,32410611,G,A&fts=all		hmmpanther:PTHR10042:SF3,hmmpanther:PTHR10042		A/V		A	low	1832/3122		getma.org/?cm=msa&ty=f&p=WT1_HUMAN&rb=398&re=449&var=A448V	deleterious_low_confidence(0)	Q6LBI3_HUMAN,J3KNN9_HUMAN,H0Y3F0_HUMAN,E9PPW3_HUMAN,E9PKS2_HUMAN,A8MN20_HUMAN,A0FJ58_HUMAN,A0FJ57_HUMAN			YES	WT1,missense_variant,p.Ala516Val,ENST00000332351,NM_024426.4,NM_024424.3;WT1,missense_variant,p.Ala496Val,ENST00000452863,NM_000378.4;WT1,missense_variant,p.Ala301Val,ENST00000379079,NM_001198551.1;WT1,missense_variant,p.Ala287Val,ENST00000530998,NM_001198552.1;WT1,missense_variant,p.Ala513Val,ENST00000448076,;WT1,missense_variant,p.Ala177Val,ENST00000527882,;WT1,3_prime_UTR_variant,,ENST00000379077,;							MODERATE	1547/1554	A448V				Transcript		possibly_damaging(0.503)	.	ENSP00000331327	3.29E-05	CCDS7878.2			1	
NTPCR	0	LGGM	GRCh37	1	233112147	233112147	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	20	29	.	.	ENST00000366628.5:c.505-1762T>G		*169*	ENST00000366628	NM_032324.1			0	1	1	UPI00000411DD	0		ENST00000366628		ENSG00000135778	28204		49			HGNC	p.T188T		NTPCR		SNV							ENST00000366627	protein_coding							G		-/6311				Q5TDE9_HUMAN			YES	NTPCR,synonymous_variant,p.=,ENST00000366627,;NTPCR,intron_variant,,ENST00000366628,NM_032324.1;NTPCR,non_coding_transcript_exon_variant,,ENST00000487953,;NTPCR,intron_variant,,ENST00000490098,;NTPCR,intron_variant,,ENST00000490807,;NTPCR,intron_variant,,ENST00000496662,;NTPCR,intron_variant,,ENST00000494689,;							MODIFIER	-/573		NTPCR_HUMAN			Transcript			.	ENSP00000355587		CCDS1597.1			1	
NEFH	0	LGGM	GRCh37	22	29885859	29885876	+	inframe_deletion	In_Frame_Del	DEL	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG	-	novel	by Submitter	H080971	H080971N.bam	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	81	57	.	.	ENST00000310624.6:c.2232_2249delTAAGTCCCCAGAGAAGGC	p.Ser752_Lys757del	p.S752_K757del	ENST00000310624	NM_021076.3	744	GCTAAGTCCCCAGAGAAG/-	0	1	1	UPI00001AEF71	0		ENST00000310624	not_provided	ENSG00000100285	7737		138			HGNC	p.744_749del	rs59890097,HIFD_NEFH:c.2230_2247del18,COSM1291235	NEFH		deletion	-:0.5826,-:0.5826		1			1,0,1	ENST00000310624	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214		AKSPEK/-	-:0.5309,-:0.5309	-		2263-2280/3783							YES	NEFH,inframe_deletion,p.Ser752_Lys757del,ENST00000310624,NM_021076.3;		-:0.0330			0,0,1		MODERATE	2230-2247/3063		NFH_HUMAN			Transcript	2		.	ENSP00000311997		CCDS13858.1			1	
ZNF135	0	LGGM	GRCh37	19	58579373	58579373	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	38	31	.	.	ENST00000401053.4:c.1593G>A	p.Ser531=	p.S531=	ENST00000401053	NM_001164529.1	531	tcG/tcA	0	1		UPI00001984EC	0		ENST00000313434		ENSG00000176293	12919	8.64E-05	69			HGNC	p.S507S	rs538478408	ZNF135	6.06E-05	SNV							ENST00000439855	protein_coding		T:0	Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF245,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		A		1622/3025				Q8N9M3_HUMAN	T:0	T:0		ZNF135,synonymous_variant,p.=,ENST00000506786,;ZNF135,synonymous_variant,p.=,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,synonymous_variant,p.=,ENST00000313434,NM_003436.3;ZNF135,synonymous_variant,p.=,ENST00000511556,;ZNF135,synonymous_variant,p.=,ENST00000439855,;ZNF135,intron_variant,,ENST00000359978,NM_001164530.1;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;		T:0.0002					LOW	1521/1977		ZN135_HUMAN		T:0	Transcript			.	ENSP00000321406	1.65E-05			T:0.001	1	
TTN	0	LGGM	GRCh37	2	179411509	179411509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080971	H080971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	63	34	.	.	ENST00000589042.1:c.94646G>T	p.Ser31549Ile	p.S31549I	ENST00000589042	NM_001267550.1	31549	aGt/aTt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=29867&to=29956&var=S29908I	ENST00000591111		ENSG00000155657	12403		97	1.385		HGNC	p.S22609I		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179411509,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		S/I		A	low	89948/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=29867&re=29956&var=S29908I		C9JQJ2_HUMAN				TTN,missense_variant,p.Ser31549Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ser29908Ile,ENST00000591111,;TTN,missense_variant,p.Ser28981Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ser22676Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ser22609Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ser22484Ile,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,;							MODERATE	89723/103053	S29908I	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FGF2	0	LGGM	GRCh37	4	123813518	123813518	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	18	35	.	.	ENST00000264498.3:c.834T>C	p.Ala278=	p.A278=	ENST00000264498	NM_002006.4	278	gcT/gcC	0	1	1	UPI0000367289	0		ENST00000264498		ENSG00000138685	3676		53			HGNC	p.A278A		FGF2		SNV							ENST00000264498	protein_coding			hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF68,Pfam_domain:PF00167,Gene3D:2.80.10.50,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00262		A		C		902/6775				D9ZGF5_HUMAN			YES	FGF2,synonymous_variant,p.=,ENST00000264498,NM_002006.4;FGF2,synonymous_variant,p.=,ENST00000608478,;NUDT6,downstream_gene_variant,,ENST00000304430,NM_007083.4;NUDT6,downstream_gene_variant,,ENST00000339154,NM_198041.2;NUDT6,downstream_gene_variant,,ENST00000510735,;NUDT6,downstream_gene_variant,,ENST00000502270,;NUDT6,intron_variant,,ENST00000608639,;NUDT6,downstream_gene_variant,,ENST00000512116,;NUDT6,downstream_gene_variant,,ENST00000503370,;							LOW	834/867		FGF2_HUMAN			Transcript			.	ENSP00000264498		CCDS34059.1			1	
TIAM2	0	LGGM	GRCh37	6	155485598	155485598	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	46	38	.	.	ENST00000461783.3:c.2078G>T	p.Arg693Met	p.R693M	ENST00000461783		693	aGg/aTg	0	1		UPI00004DF8BE	0	getma.org/pdb.php?prot=TIAM2_HUMAN&from=621&to=820&var=R693M	ENST00000318981		ENSG00000146426	11806		84	2.22		HGNC	p.R5M		TIAM2		SNV							ENST00000528391	protein_coding	getma.org/?cm=var&var=hg19,6,155485598,G,T&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		R/M		T	medium	2286/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=621&re=820&var=R693M	deleterious(0)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Arg693Met,ENST00000461783,;TIAM2,missense_variant,p.Arg693Met,ENST00000456144,;TIAM2,missense_variant,p.Arg45Met,ENST00000367174,;TIAM2,missense_variant,p.Arg693Met,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Arg693Met,ENST00000360366,;TIAM2,missense_variant,p.Arg693Met,ENST00000529824,;TIAM2,missense_variant,p.Arg693Met,ENST00000528535,;TIAM2,missense_variant,p.Arg5Met,ENST00000528391,;TIAM2,missense_variant,p.Arg5Met,ENST00000456877,;							MODERATE	2078/5106	R693M	TIAM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000327315		CCDS34558.1			1	
ZP4	0	LGGM	GRCh37	1	238045737	238045737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	120	38	.	.	ENST00000366570.4:c.1608C>A	p.Asp536Glu	p.D536E	ENST00000366570	NM_021186.3	536	gaC/gaA	0	1	1	UPI000006F0E4	0	NA	ENST00000366570		ENSG00000116996	15770		158	0		HGNC	p.D536E	rs745465922	ZP4	0.000303	SNV							ENST00000366570	protein_coding	getma.org/?cm=var&var=hg19,1,238045737,G,T&fts=all				D/E		T	neutral	1767/1799		getma.org/?cm=msa&ty=f&p=ZP4_HUMAN&rb=463&re=540&var=D536E	tolerated_low_confidence(1)				YES	ZP4,missense_variant,p.Asp536Glu,ENST00000366570,NM_021186.3;RP11-193H5.1,intron_variant,,ENST00000450451,;							MODERATE	1608/1623	D536E	ZP4_HUMAN			Transcript		benign(0.011)	.	ENSP00000355529	4.12E-05	CCDS1615.1			1	
MBOAT1	0	LGGM	GRCh37	6	20109880	20109880	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	45	40	.	.	ENST00000324607.7:c.1310C>T	p.Thr437Met	p.T437M	ENST00000324607	NM_001080480.2	437	aCg/aTg	0	1	1	UPI000020D5D0	0	NA	ENST00000324607		ENSG00000172197	21579		85	2.09		HGNC	p.T288M		MBOAT1		SNV							ENST00000541730	protein_coding	getma.org/?cm=var&var=hg19,6,20109880,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13906:SF6,hmmpanther:PTHR13906		T/M		A	medium	1475/1794		getma.org/?cm=msa&ty=f&p=MBOA1_HUMAN&rb=123&re=443&var=T437M	deleterious(0.01)				YES	MBOAT1,missense_variant,p.Thr288Met,ENST00000541730,;MBOAT1,missense_variant,p.Thr437Met,ENST00000324607,NM_001080480.2;							MODERATE	1310/1488	T437M	MBOA1_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000324944		CCDS34346.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110455185	110455185	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	53	46	.	.	ENST00000378402.5:c.4404T>G	p.Ser1468=	p.S1468=	ENST00000378402	NM_177531.4	1468	tcT/tcG	0	1	1	UPI0000E5B020	0		ENST00000378402		ENSG00000205038	20313		99			HGNC	p.S1468S		PKHD1L1		SNV							ENST00000378402	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,Superfamily_domains:SSF49503		S		G		4508/13076							YES	PKHD1L1,synonymous_variant,p.=,ENST00000378402,NM_177531.4;							LOW	4404/12732		PKHL1_HUMAN			Transcript			.	ENSP00000367655		CCDS47911.1			1	
EIF3D	0	LGGM	GRCh37	22	36920767	36920767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	80	53	.	.	ENST00000216190.8:c.182C>T	p.Ser61Phe	p.S61F	ENST00000216190	NM_003753.3	61	tCt/tTt	0	1	1	UPI000012D306	0	NA	ENST00000216190		ENSG00000100353	3278		133	2.525		HGNC	p.S61F		EIF3D		SNV							ENST00000405442	protein_coding	getma.org/?cm=var&var=hg19,22,36920767,G,A&fts=all		HAMAP:MF_03003,Pfam_domain:PF05091,PIRSF_domain:PIRSF016281,hmmpanther:PTHR12399		S/F		A	medium	553/2155		getma.org/?cm=msa&ty=f&p=EIF3D_HUMAN&rb=2&re=522&var=S61F	deleterious(0)	B4E1K8_HUMAN,B0QYA8_HUMAN,B0QYA6_HUMAN,B0QYA5_HUMAN,B0QYA4_HUMAN,B0QYA3_HUMAN,A8MWD3_HUMAN			YES	EIF3D,missense_variant,p.Ser61Phe,ENST00000216190,NM_003753.3;EIF3D,missense_variant,p.Ser61Phe,ENST00000405442,;EIF3D,missense_variant,p.Ser61Phe,ENST00000455547,;EIF3D,missense_variant,p.Ser61Phe,ENST00000457241,;EIF3D,missense_variant,p.Ser61Phe,ENST00000432675,;EIF3D,missense_variant,p.Ser61Phe,ENST00000402116,;EIF3D,intron_variant,,ENST00000541106,;EIF3D,non_coding_transcript_exon_variant,,ENST00000496875,;							MODERATE	182/1647	S61F	EIF3D_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000216190		CCDS13930.1			1	
FMN2	0	LGGM	GRCh37	1	240497441	240497441	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	221	58	.	.	ENST00000319653.9:c.4677G>A	p.Leu1559=	p.L1559=	ENST00000319653	NM_020066.4	1559	ctG/ctA	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		279			HGNC	p.L1559L		FMN2		SNV			1				ENST00000319653	protein_coding			Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,SMART_domains:SM00498,Superfamily_domains:SSF101447		L		A		4907/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,synonymous_variant,p.=,ENST00000319653,NM_020066.4;FMN2,synonymous_variant,p.=,ENST00000545751,;FMN2,downstream_gene_variant,,ENST00000441342,;FMN2,downstream_gene_variant,,ENST00000463398,;							LOW	4677/5169		FMN2_HUMAN			Transcript			.	ENSP00000318884		CCDS31069.2			1	
CCDC150	0	LGGM	GRCh37	2	197521364	197521364	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	75	65	.	.	ENST00000389175.4:c.184T>A	p.Leu62Met	p.L62M	ENST00000389175	NM_001080539.1	62	Ttg/Atg	0	1	1	UPI0000DD7A7C	0	NA	ENST00000389175		ENSG00000144395	26834		140	1.95		HGNC	p.L62M		CCDC150		SNV							ENST00000389175	protein_coding	getma.org/?cm=var&var=hg19,2,197521364,T,A&fts=all				L/M		A	medium	319/3685		getma.org/?cm=msa&ty=f&p=CC150_HUMAN&rb=1&re=150&var=L62M	tolerated(0.13)				YES	CCDC150,missense_variant,p.Leu62Met,ENST00000389175,NM_001080539.1;CCDC150,5_prime_UTR_variant,,ENST00000472405,;CCDC150,intron_variant,,ENST00000272831,;CCDC150,intron_variant,,ENST00000423093,;CCDC150,intron_variant,,ENST00000498512,;CCDC150,upstream_gene_variant,,ENST00000495513,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471546,;CCDC150,non_coding_transcript_exon_variant,,ENST00000471033,;CCDC150,intron_variant,,ENST00000431807,;							MODERATE	184/3306	L62M	CC150_HUMAN			Transcript		benign(0.098)	.	ENSP00000373827		CCDS46478.1			1	
LCE2D	0	LGGM	GRCh37	1	152636676	152636676	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H080971	H080971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	228	66	.	.	ENST00000368784.1:c.95G>T	p.Cys32Phe	p.C32F	ENST00000368784	NM_178430.3	32	tGc/tTc	0	1	1	UPI00001927D4	0	NA	ENST00000368784		ENSG00000187223	16518		294	2.85		HGNC	p.C32F		LCE2D		SNV							ENST00000368784	protein_coding	getma.org/?cm=var&var=hg19,1,152636676,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Pfam_domain:PF14672,Prints_domain:PR00021		C/F		T	medium	150/609		getma.org/?cm=msa&ty=f&p=LCE2D_HUMAN&rb=1&re=108&var=C32F	deleterious_low_confidence(0.01)				YES	LCE2D,missense_variant,p.Cys32Phe,ENST00000368784,NM_178430.3;							MODERATE	95/333	C32F	LCE2D_HUMAN			Transcript		unknown(0)	.	ENSP00000357773		CCDS1018.1			1	
TRIM49B	0	LGGM	GRCh37	11	49053275	49053275	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H080971	H080971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	93	79	.	.	ENST00000332682.7:c.124A>C	p.Asn42His	p.N42H	ENST00000332682	NM_001206626.1	42	Aac/Cac	0	1	1	UPI000013EEA1	0	getma.org/pdb.php?prot=TR49B_HUMAN&from=11&to=57&var=N42H	ENST00000332682		ENSG00000182053	42955		172	-0.645		HGNC	p.N42H	rs528946655	TRIM49B		SNV				0.000292			ENST00000332682	protein_coding	getma.org/?cm=var&var=hg19,11,49053275,A,C&fts=all	C:0.0008	Gene3D:3.30.40.10,Pfam_domain:PF15227,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF268,SMART_domains:SM00184,Superfamily_domains:SSF57850		N/H		C	neutral	152/1437		getma.org/?cm=msa&ty=f&p=TR49B_HUMAN&rb=11&re=57&var=N42H	tolerated(0.32)	I1YAQ7_HUMAN	C:0	C:0	YES	TRIM49B,missense_variant,p.Asn42His,ENST00000332682,NM_001206626.1;		C:0.0002					MODERATE	124/1359	N42H	TR49B_HUMAN		C:0	Transcript		benign(0.021)	.	ENSP00000330216	2.47E-05	CCDS55762.1		C:0	1	
PTPRB	0	LGGM	GRCh37	12	70983876	70983876	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H080971	H080971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080971N.bam, H080971T.bam	Illumina HiSeq	117	92	.	.	ENST00000334414.6:c.1918A>G	p.Ile640Val	p.I640V	ENST00000334414	NM_001109754.2	640	Atc/Gtc	0	1		UPI00001FC788	0	getma.org/pdb.php?prot=PTPRB_HUMAN&from=378&to=460&var=I422V	ENST00000261266		ENSG00000127329	9665		209	0.69		HGNC	p.I640V		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,70983876,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/V		C	neutral	1294/6110		getma.org/?cm=msa&ty=f&p=PTPRB_HUMAN&rb=378&re=460&var=I422V	tolerated(0.3)					PTPRB,missense_variant,p.Ile640Val,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Ile640Val,ENST00000550358,;PTPRB,missense_variant,p.Ile422Val,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Ile422Val,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Ile639Val,ENST00000551525,;PTPRB,missense_variant,p.Ile519Val,ENST00000548122,;PTPRB,intron_variant,,ENST00000451516,NM_001206971.1;PTPRB,intron_variant,,ENST00000550857,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,downstream_gene_variant,,ENST00000552253,;							MODERATE	1264/5994	I422V	PTPRB_HUMAN			Transcript		benign(0.002)	.	ENSP00000261266		CCDS44944.1			1	
RAB11FIP5	0	LGGM	GRCh37	2	73315748	73315748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	9	2	.	.	ENST00000258098.6:c.998G>T	p.Arg333Leu	p.R333L	ENST00000258098	NM_015470.2	333	cGc/cTc	0	1	1	UPI000007079C	0	NA	ENST00000258098		ENSG00000135631	24845		11	2.125		HGNC	p.R333L		RAB11FIP5		SNV							ENST00000258098	protein_coding	getma.org/?cm=var&var=hg19,2,73315748,C,A&fts=all		hmmpanther:PTHR15746,hmmpanther:PTHR15746:SF14		R/L		A	medium	1239/4342		getma.org/?cm=msa&ty=f&p=RFIP5_HUMAN&rb=290&re=489&var=R333L	deleterious(0)	Q53T28_HUMAN,Q2Z1P3_HUMAN			YES	RAB11FIP5,missense_variant,p.Arg333Leu,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,;							MODERATE	998/1962	R333L	RFIP5_HUMAN			Transcript		possibly_damaging(0.743)	.	ENSP00000258098		CCDS1923.1			1	
DPYSL4	0	LGGM	GRCh37	10	134008449	134008449	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	11	2	.	.	ENST00000338492.4:c.414C>A	p.His138Gln	p.H138Q	ENST00000338492	NM_006426.2	138	caC/caA	0	1	1	UPI000013DC70	0	getma.org/pdb.php?prot=DPYL4_HUMAN&from=64&to=413&var=H138Q	ENST00000338492		ENSG00000151640	3016		13	2.805		HGNC	p.H138Q		DPYSL4		SNV							ENST00000338492	protein_coding	getma.org/?cm=var&var=hg19,10,134008449,C,A&fts=all		hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF55,TIGRFAM_domain:TIGR02033,Pfam_domain:PF01979,Gene3D:3.20.20.140,Superfamily_domains:SSF51556		H/Q		A	medium	578/2729		getma.org/?cm=msa&ty=f&p=DPYL4_HUMAN&rb=64&re=413&var=H138Q	deleterious(0.03)	D3DRG7_HUMAN			YES	DPYSL4,missense_variant,p.His138Gln,ENST00000338492,NM_006426.2;DPYSL4,missense_variant,p.His61Gln,ENST00000368629,;DPYSL4,missense_variant,p.His61Gln,ENST00000368627,;DPYSL4,non_coding_transcript_exon_variant,,ENST00000493882,;DPYSL4,downstream_gene_variant,,ENST00000493927,;							MODERATE	414/1719	H138Q	DPYL4_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000339850		CCDS7665.1			1	
SNAP47	0	LGGM	GRCh37	1	227935392	227935392	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	15	3	.	.	ENST00000366759.4:c.91-1G>A		p.X31_splice	ENST00000366759	NM_053052.3			0	1		UPI0001A336B9	0		ENST00000315781		ENSG00000143740	30669		18			HGNC	-		SNAP47		SNV							ENST00000315781	protein_coding							A		-/1755								SNAP47,splice_acceptor_variant,,ENST00000426344,;SNAP47,splice_acceptor_variant,,ENST00000366759,NM_053052.3;SNAP47,splice_acceptor_variant,,ENST00000315781,;SNAP47,intron_variant,,ENST00000418653,;SNAP47,intron_variant,,ENST00000366760,;SNAP47,upstream_gene_variant,,ENST00000606873,;SNAP47-AS1,upstream_gene_variant,,ENST00000413347,;SNAP47,splice_acceptor_variant,,ENST00000475930,;SNAP47,splice_acceptor_variant,,ENST00000470038,;SNAP47,intron_variant,,ENST00000491439,;SNAP47,upstream_gene_variant,,ENST00000478768,;							HIGH	91/1341		SNP47_HUMAN			Transcript			.	ENSP00000314157					1	
CCNB2	0	LGGM	GRCh37	15	59406768	59406768	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	38	3	.	.	ENST00000288207.2:c.393C>A	p.Cys131Ter	p.C131*	ENST00000288207	NM_004701.3	131	tgC/tgA	0	1	1	UPI00001275B3	0	NA	ENST00000288207		ENSG00000157456	1580		41	0		HGNC	p.C131X		CCNB2		SNV							ENST00000288207	protein_coding	getma.org/?cm=var&var=hg19,15,59406768,C,A&fts=all		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF184,PIRSF_domain:PIRSF001771,Superfamily_domains:SSF47954		C/*		A	NA	584/1556		NA					YES	CCNB2,stop_gained,p.Cys131Ter,ENST00000288207,NM_004701.3;CCNB2,stop_gained,p.Cys50Ter,ENST00000559622,;CCNB2,non_coding_transcript_exon_variant,,ENST00000561077,;CCNB2,upstream_gene_variant,,ENST00000559301,;							HIGH	393/1197	C131*	CCNB2_HUMAN			Transcript			.	ENSP00000288207		CCDS10170.1			1	
SLC43A3	0	LGGM	GRCh37	11	57177429	57177429	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	8	3	.	.	ENST00000395123.2:c.1226A>G	p.Asn409Ser	p.N409S	ENST00000395123	NM_014096.3	409	aAc/aGc	0	1		UPI00000377A1	0	NA	ENST00000352187		ENSG00000134802	17466		11	2.77		HGNC	p.N409S		SLC43A3		SNV							ENST00000395123	protein_coding	getma.org/?cm=var&var=hg19,11,57177429,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR20765,hmmpanther:PTHR20765:SF1,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473		N/S		C	medium	1509/2595		getma.org/?cm=msa&ty=f&p=S43A3_HUMAN&rb=12&re=441&var=N409S	tolerated(0.06)	E9PSH9_HUMAN,E9PS74_HUMAN,E9PR64_HUMAN,E9PPE4_HUMAN,E9PMZ1_HUMAN,E9PLW1_HUMAN,E9PLF2_HUMAN,E9PL23_HUMAN,E9PJT6_HUMAN,E9PJL3_HUMAN,E9PJL1_HUMAN				SLC43A3,missense_variant,p.Asn409Ser,ENST00000395123,NM_014096.3;SLC43A3,missense_variant,p.Asn409Ser,ENST00000395124,NM_001278206.1,NM_199329.2,NM_001278201.1;SLC43A3,missense_variant,p.Asn409Ser,ENST00000352187,NM_017611.2;SLC43A3,missense_variant,p.Asn409Ser,ENST00000529554,;SLC43A3,missense_variant,p.Asn422Ser,ENST00000533524,;RP11-872D17.8,missense_variant,p.Asn53Ser,ENST00000529411,;SLC43A3,downstream_gene_variant,,ENST00000530005,;RP11-872D17.8,intron_variant,,ENST00000534081,;SLC43A3,intron_variant,,ENST00000525205,;RP11-872D17.8,upstream_gene_variant,,ENST00000528835,;							MODERATE	1226/1476	N409S	S43A3_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000337561		CCDS7956.1			1	
WIZ	0	LGGM	GRCh37	19	15537979	15537979	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	11	3	.	.	ENST00000263381.7:c.895C>G	p.Pro299Ala	p.P299A	ENST00000263381	NM_021241.2	299	Cct/Gct	0	1	1	UPI000041F888	0	NA	ENST00000263381		ENSG00000011451	30917		14	0.695		HGNC	p.P337A		WIZ		SNV							ENST00000599686	protein_coding	getma.org/?cm=var&var=hg19,19,15537979,G,C&fts=all		hmmpanther:PTHR24402:SF162,hmmpanther:PTHR24402		P/A		C	neutral	1109/4152		getma.org/?cm=msa&ty=f&p=B3KR89_HUMAN&rb=1&re=158&var=P88A	deleterious(0.01)	M0QXF8_HUMAN			YES	WIZ,missense_variant,p.Pro1156Ala,ENST00000389282,;WIZ,missense_variant,p.Pro473Ala,ENST00000599910,;WIZ,missense_variant,p.Pro299Ala,ENST00000263381,NM_021241.2;WIZ,missense_variant,p.Pro340Ala,ENST00000599686,;WIZ,missense_variant,p.Pro470Ala,ENST00000545156,;WIZ,upstream_gene_variant,,ENST00000600632,;							MODERATE	895/2385	P88A	WIZ_HUMAN			Transcript		benign(0.167)	.	ENSP00000263381		CCDS42516.1			1	
DNHD1	0	LGGM	GRCh37	11	6567613	6567613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	47	3	.	.	ENST00000254579.6:c.5444C>A	p.Pro1815His	p.P1815H	ENST00000254579	NM_144666.2	1815	cCt/cAt	0	1	1	UPI0001929529	0	getma.org/pdb.php?prot=DNHD1_HUMAN&from=1649&to=1869&var=P1815H	ENST00000254579		ENSG00000179532	26532		50	2.525		HGNC	p.P1815H		DNHD1		SNV							ENST00000254579	protein_coding	getma.org/?cm=var&var=hg19,11,6567613,C,A&fts=all		hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676,Pfam_domain:PF12774		P/H		A	medium	6008/14862		getma.org/?cm=msa&ty=f&p=DNHD1_HUMAN&rb=1649&re=1869&var=P1815H					YES	DNHD1,missense_variant,p.Pro1815His,ENST00000254579,NM_144666.2;DNHD1,missense_variant,p.Pro1815His,ENST00000527990,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533649,;DNHD1,intron_variant,,ENST00000534210,;							MODERATE	5444/14262	P1815H	DNHD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000254579		CCDS44532.1			1	
UBR4	0	LGGM	GRCh37	1	19519031	19519031	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	28	3	.	.	ENST00000375254.3:c.1147G>A	p.Glu383Lys	p.E383K	ENST00000375254	NM_020765.2	383	Gaa/Aaa	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		31	1.24		HGNC	p.E383K	rs749093714	UBR4		SNV							ENST00000375254	protein_coding	getma.org/?cm=var&var=hg19,1,19519031,C,T&fts=all		hmmpanther:PTHR21725		E/K		T	low	1175/15906	1.51E-05	getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=E383K		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Glu383Lys,ENST00000375267,;UBR4,missense_variant,p.Glu383Lys,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Glu383Lys,ENST00000375217,;UBR4,missense_variant,p.Glu383Lys,ENST00000375226,;							MODERATE	1147/15552	E383K	UBR4_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000364403	8.24E-06	CCDS189.1			1	
PAGE3	0	LGGM	GRCh37	X	55289710	55289710	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	5	3	.	.	ENST00000519203.1:c.167G>A	p.Arg56Lys	p.R56K	ENST00000519203		56	aGa/aAa	0	1		UPI0000161132	0		ENST00000374951		ENSG00000204279	4110		8			HGNC	p.R56K		PAGE3		SNV							ENST00000519203	protein_coding			hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF1,Pfam_domain:PF05831		R/K		T		476/742			tolerated(1)					PAGE3,missense_variant,p.Arg56Lys,ENST00000374951,;PAGE3,missense_variant,p.Arg56Lys,ENST00000519203,;							MODERATE	167/342		PAGE3_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000364089					1	
ZNF528	0	LGGM	GRCh37	19	52918496	52918496	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	45	3	.	.	ENST00000360465.3:c.391G>A	p.Gly131Arg	p.G131R	ENST00000360465	NM_032423.2	131	Ggg/Agg	0	1	1	UPI00001B6535	0	NA	ENST00000360465		ENSG00000167555	29384		48	0.09		HGNC	p.G131R		ZNF528		SNV							ENST00000360465	protein_coding	getma.org/?cm=var&var=hg19,19,52918496,G,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF143		G/R		A	neutral	817/3978		getma.org/?cm=msa&ty=f&p=ZN528_HUMAN&rb=49&re=203&var=G131R	tolerated(0.24)	C9K0H2_HUMAN			YES	ZNF528,missense_variant,p.Gly131Arg,ENST00000360465,NM_032423.2;ZNF528,3_prime_UTR_variant,,ENST00000391788,;ZNF528,3_prime_UTR_variant,,ENST00000448954,;ZNF528,non_coding_transcript_exon_variant,,ENST00000598479,;ZNF528,non_coding_transcript_exon_variant,,ENST00000479718,;							MODERATE	391/1887	G131R	ZN528_HUMAN			Transcript		benign(0.032)	.	ENSP00000353652		CCDS33091.1			1	
SRC	0	LGGM	GRCh37	20	36030888	36030888	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	10	3	.	.	ENST00000358208.4:c.1167C>A	p.Asp389Glu	p.D389E	ENST00000358208		389	gaC/gaA	0	1		UPI0000000CB3	0	getma.org/pdb.php?prot=SRC_HUMAN&from=270&to=519&var=D389E	ENST00000358208		ENSG00000197122	11283		13	4.28		HGNC	p.D389E		SRC		SNV							ENST00000358208	protein_coding	getma.org/?cm=var&var=hg19,20,36030888,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF53,PROSITE_patterns:PS00109,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109		D/E		A	high	1269/3748		getma.org/?cm=msa&ty=f&p=SRC_HUMAN&rb=270&re=519&var=D389E	deleterious(0.03)	Q9H7V3_HUMAN,Q71UK5_HUMAN				SRC,missense_variant,p.Asp389Glu,ENST00000373578,NM_198291.2;SRC,missense_variant,p.Asp389Glu,ENST00000373567,;SRC,missense_variant,p.Asp395Glu,ENST00000373558,;SRC,missense_variant,p.Asp389Glu,ENST00000445403,NM_005417.4;SRC,missense_variant,p.Asp395Glu,ENST00000360723,;SRC,missense_variant,p.Asp389Glu,ENST00000358208,;SRC,non_coding_transcript_exon_variant,,ENST00000477066,;SRC,non_coding_transcript_exon_variant,,ENST00000493775,;SRC,downstream_gene_variant,,ENST00000477475,;SRC,downstream_gene_variant,,ENST00000489153,;SRC,downstream_gene_variant,,ENST00000467556,;							MODERATE	1167/1611	D389E	SRC_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000350941		CCDS13294.1			1	
FBXL7	0	LGGM	GRCh37	5	15928283	15928283	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	10	4	.	.	ENST00000504595.1:c.412G>A	p.Ala138Thr	p.A138T	ENST00000504595	NM_012304.4	138	Gcg/Acg	0	1	1	UPI00000724E0	0	getma.org/pdb.php?prot=FBXL7_HUMAN&from=112&to=159&var=A138T	ENST00000504595		ENSG00000183580	13604		14	2.215		HGNC	p.A91T	COSM3697108	FBXL7		SNV						1	ENST00000510662	protein_coding	getma.org/?cm=var&var=hg19,5,15928283,G,A&fts=all		PROSITE_profiles:PS50181,hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Pfam_domain:PF12937,SMART_domains:SM00256,Superfamily_domains:SSF81383		A/T		A	medium	893/4562		getma.org/?cm=msa&ty=f&p=FBXL7_HUMAN&rb=112&re=159&var=A138T	deleterious(0)	J3KNM9_HUMAN,D6RDY7_HUMAN			YES	FBXL7,missense_variant,p.Ala138Thr,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Ala91Thr,ENST00000510662,NM_001278317.1;FBXL7,missense_variant,p.Ala126Thr,ENST00000329673,;					1		MODERATE	412/1476	A138T	FBXL7_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000423630		CCDS54833.1			1	
DOCK2	0	LGGM	GRCh37	5	169461410	169461410	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	21	4	.	.	ENST00000256935.8:c.3475G>A	p.Glu1159Lys	p.E1159K	ENST00000256935	NM_004946.2	1159	Gaa/Aaa	0	1	1	UPI00001A38CC	0	NA	ENST00000256935		ENSG00000134516	2988		25	2.315		HGNC	p.E1159K		DOCK2		SNV							ENST00000256935	protein_coding	getma.org/?cm=var&var=hg19,5,169461410,G,A&fts=all		hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317		E/K		A	medium	3555/6097		getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=1115&re=1621&var=E1159K	deleterious(0.03)	Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,missense_variant,p.Glu1159Lys,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Glu651Lys,ENST00000520908,;DOCK2,missense_variant,p.Glu220Lys,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,3_prime_UTR_variant,,ENST00000433448,;							MODERATE	3475/5493	E1159K	DOCK2_HUMAN			Transcript		benign(0.302)	.	ENSP00000256935		CCDS4371.1			1	
MAN1A2	0	LGGM	GRCh37	1	118045494	118045494	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	46	4	.	.	ENST00000356554.3:c.1695C>T	p.Cys565=	p.C565=	ENST00000356554	NM_006699.3	565	tgC/tgT	0	1	1	UPI0000052B45	0		ENST00000356554		ENSG00000198162	6822		50			HGNC	p.C4C		MAN1A2		SNV							ENST00000422329	protein_coding			Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF40,Superfamily_domains:SSF48225		C		T		2430/8576							YES	MAN1A2,synonymous_variant,p.=,ENST00000356554,NM_006699.3;MAN1A2,synonymous_variant,p.=,ENST00000449370,;MAN1A2,synonymous_variant,p.=,ENST00000421535,;MAN1A2,synonymous_variant,p.=,ENST00000422329,;							LOW	1695/1926		MA1A2_HUMAN			Transcript			.	ENSP00000348959		CCDS895.1			1	
RPN2	0	LGGM	GRCh37	20	35838523	35838523	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	91	6	.	.	ENST00000237530.6:c.941C>T	p.Ala314Val	p.A314V	ENST00000237530	NM_002951.3	314	gCt/gTt	0	1	1	UPI0000000C52	0	NA	ENST00000237530		ENSG00000118705	10382		97	-0.145		HGNC	p.A282V		RPN2		SNV							ENST00000373622	protein_coding	getma.org/?cm=var&var=hg19,20,35838523,C,T&fts=all		Pfam_domain:PF05817,hmmpanther:PTHR12640,hmmpanther:PTHR12640:SF0		A/V		T	neutral	1252/2511		getma.org/?cm=msa&ty=f&p=RPN2_HUMAN&rb=2&re=628&var=A314V	tolerated(0.1)				YES	RPN2,missense_variant,p.Ala314Val,ENST00000237530,NM_002951.3;RPN2,missense_variant,p.Ala282Val,ENST00000373622,NM_001135771.1;RPN2,missense_variant,p.Ala330Val,ENST00000373632,;RPN2,missense_variant,p.Ala157Val,ENST00000456102,;RPN2,downstream_gene_variant,,ENST00000462163,;							MODERATE	941/1896	A314V	RPN2_HUMAN			Transcript		possibly_damaging(0.785)	.	ENSP00000237530		CCDS13291.1			1	
ATP2A3	0	LGGM	GRCh37	17	3831322	3831322	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	6	6	.	.	ENST00000359983.3:c.3092A>T	p.His1031Leu	p.H1031L	ENST00000359983		1031	cAc/cTc	0	1		UPI00001261E5	0		ENST00000352011		ENSG00000074370	813		12			HGNC	p.T136S		ATP2A3		SNV							ENST00000570845	protein_coding							A		-/3274								ATP2A3,missense_variant,p.His1031Leu,ENST00000359983,;ATP2A3,missense_variant,p.Thr136Ser,ENST00000570845,;ATP2A3,synonymous_variant,p.=,ENST00000397039,;ATP2A3,synonymous_variant,p.=,ENST00000572116,;ATP2A3,intron_variant,,ENST00000309890,NM_174954.2,NM_174953.2,NM_174955.2,NM_174956.2;ATP2A3,intron_variant,,ENST00000397041,NM_005173.3,NM_174957.2;ATP2A3,intron_variant,,ENST00000397035,NM_174958.2;ATP2A3,intron_variant,,ENST00000352011,;ATP2A3,intron_variant,,ENST00000397043,;ATP2A3,intron_variant,,ENST00000570773,;ATP2A3,intron_variant,,ENST00000574999,;ATP2A3,downstream_gene_variant,,ENST00000576957,;ATP2A3,downstream_gene_variant,,ENST00000571245,;							MODIFIER	-/3132		AT2A3_HUMAN			Transcript			.	ENSP00000301387		CCDS11041.1			1	
FAM72D	0	LGGM	GRCh37	1	143912269	143912269	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	64	7	.	.	ENST00000400889.1:c.27G>A	p.Lys9=	p.K9=	ENST00000400889	NM_207418.2	9	aaG/aaA	0	1	1	UPI0000252280	0		ENST00000400889		ENSG00000215784	33593		71			HGNC	p.K9K		FAM72D		SNV							ENST00000400889	protein_coding			Pfam_domain:PF14976,hmmpanther:PTHR31841		K		T		875/2393							YES	FAM72D,synonymous_variant,p.=,ENST00000400889,NM_207418.2;SRGAP2B,upstream_gene_variant,,ENST00000467933,;SRGAP2B,upstream_gene_variant,,ENST00000463366,;SRGAP2B,upstream_gene_variant,,ENST00000494534,;SRGAP2B,upstream_gene_variant,,ENST00000491897,;							LOW	27/450		FA72D_HUMAN			Transcript			.	ENSP00000383682		CCDS44204.1			1	
WDFY4	0	LGGM	GRCh37	10	50105596	50105596	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	21	7	.	.	ENST00000325239.5:c.7414C>T	p.Arg2472Trp	p.R2472W	ENST00000325239	NM_020945.1	2472	Cgg/Tgg	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		28	1.61		HGNC	p.R2472W		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,50105596,C,T&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Pfam_domain:PF14844,Gene3D:1t77A01,Superfamily_domains:SSF50729		R/W		T	low	7441/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=2401&re=2538&var=R2472W	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Arg2472Trp,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Arg559Trp,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;RP11-523O18.7,intron_variant,,ENST00000430438,;							MODERATE	7414/9555	R2472W	WDFY4_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000320563		CCDS44385.1			1	
DDX60	0	LGGM	GRCh37	4	169193203	169193203	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	13	8	.	.	ENST00000393743.3:c.2661A>G	p.Ile887Met	p.I887M	ENST00000393743	NM_017631.5	887	atA/atG	0	1	1	UPI000020B6AB	0	getma.org/pdb.php?prot=DDX60_HUMAN&from=765&to=927&var=I887M	ENST00000393743		ENSG00000137628	25942		21	3.37		HGNC	p.I887M		DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169193203,T,C&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540		I/M		C	medium	2953/6071		getma.org/?cm=msa&ty=f&p=DDX60_HUMAN&rb=765&re=927&var=I887M	deleterious(0.01)	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,missense_variant,p.Ile887Met,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000513997,;							MODERATE	2661/5139	I887M	DDX60_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377344		CCDS34097.1			1	
ATP6V1B1	0	LGGM	GRCh37	2	71187085	71187085	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	32	8	.	.	ENST00000234396.4:c.462G>A	p.Pro154=	p.P154=	ENST00000234396	NM_001692.3	154	ccG/ccA	0	1	1	UPI000013C9A0	0		ENST00000234396		ENSG00000116039	853		40			HGNC	p.P154P		ATP6V1B1		SNV			1				ENST00000234396	protein_coding			Gene3D:3.40.50.300,HAMAP:MF_00310,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF29,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01040		P		A		535/1891				Q71UA2_HUMAN,C9JZ02_HUMAN,C9JTN0_HUMAN,B4DWH7_HUMAN			YES	ATP6V1B1,synonymous_variant,p.=,ENST00000234396,NM_001692.3;ATP6V1B1,synonymous_variant,p.=,ENST00000412314,;ATP6V1B1,synonymous_variant,p.=,ENST00000454446,;ATP6V1B1,synonymous_variant,p.=,ENST00000432098,;AC007040.11,intron_variant,,ENST00000606025,;ATP6V1B1,upstream_gene_variant,,ENST00000433895,;ATP6V1B1,synonymous_variant,p.=,ENST00000432367,;ATP6V1B1,non_coding_transcript_exon_variant,,ENST00000463380,;ATP6V1B1,non_coding_transcript_exon_variant,,ENST00000495118,;AC007040.11,intron_variant,,ENST00000453130,;TCEB1P21,upstream_gene_variant,,ENST00000412558,;							LOW	462/1542		VATB1_HUMAN			Transcript			.	ENSP00000234396		CCDS1912.1			1	
BCL11B	0	LGGM	GRCh37	14	99724075	99724075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	22	8	.	.	ENST00000357195.3:c.160G>T	p.Asp54Tyr	p.D54Y	ENST00000357195	NM_138576.2	54	Gac/Tac	0	1	1	UPI000006E083	0	NA	ENST00000357195		ENSG00000127152	13222		30	1.65		HGNC	p.D54Y		BCL11B		SNV							ENST00000345514	protein_coding	getma.org/?cm=var&var=hg19,14,99724075,C,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45		D/Y		A	low	170/7559		getma.org/?cm=msa&ty=f&p=BC11B_HUMAN&rb=1&re=54&var=D54Y	deleterious(0)	L8B7P7_HUMAN			YES	BCL11B,missense_variant,p.Asp54Tyr,ENST00000345514,NM_022898.1,NM_001282238.1;BCL11B,missense_variant,p.Asp54Tyr,ENST00000357195,NM_138576.2,NM_001282237.1;BCL11B,intron_variant,,ENST00000443726,;							MODERATE	160/2685	D54Y	BC11B_HUMAN			Transcript		benign(0.006)	.	ENSP00000349723		CCDS9950.1			1	
CCR7	0	LGGM	GRCh37	17	38711094	38711094	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	24	8	.	.	ENST00000246657.2:c.1037G>T	p.Cys346Phe	p.C346F	ENST00000246657	NM_001838.3	346	tGc/tTc	0	1	1	UPI0000001C2F	0	NA	ENST00000246657		ENSG00000126353	1608		32	2.38		HGNC	p.C346F		CCR7		SNV							ENST00000246657	protein_coding	getma.org/?cm=var&var=hg19,17,38711094,C,A&fts=all		hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF29,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		C/F		A	medium	1100/2173		getma.org/?cm=msa&ty=f&p=CCR7_HUMAN&rb=327&re=378&var=C346F	deleterious(0)	J3KTN5_HUMAN,J3KSS9_HUMAN,A0N0Q0_HUMAN			YES	CCR7,missense_variant,p.Cys346Phe,ENST00000246657,NM_001838.3;CCR7,missense_variant,p.Cys340Phe,ENST00000579344,;CCR7,downstream_gene_variant,,ENST00000578085,;							MODERATE	1037/1137	C346F	CCR7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000246657		CCDS11369.1			1	
ACTRT2	0	LGGM	GRCh37	1	2939072	2939072	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	22	9	.	.	ENST00000378404.2:c.822C>A	p.Pro274=	p.P274=	ENST00000378404	NM_080431.4	274	ccC/ccA	0	1	1	UPI0000070494	0		ENST00000378404		ENSG00000169717	24026		31			HGNC	p.P274P		ACTRT2		SNV							ENST00000378404	protein_coding			hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		P		A		1027/1420							YES	ACTRT2,synonymous_variant,p.=,ENST00000378404,NM_080431.4;							LOW	822/1134		ACTT2_HUMAN			Transcript			.	ENSP00000367658		CCDS45.1			1	
ATL2	0	LGGM	GRCh37	2	38523236	38523236	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	57	9	.	.	ENST00000378954.4:c.1652A>G	p.Asp551Gly	p.D551G	ENST00000378954	NM_001135673.1	551	gAt/gGt	0	1	1	UPI00001B00A2	0	NA	ENST00000378954		ENSG00000119787	24047		66	0.345		HGNC	p.D551G		ATL2		SNV							ENST00000378954	protein_coding	getma.org/?cm=var&var=hg19,2,38523236,T,C&fts=all		hmmpanther:PTHR10751:SF42,hmmpanther:PTHR10751		D/G		C	neutral	1654/2868		getma.org/?cm=msa&ty=f&p=ATLA2_HUMAN&rb=474&re=583&var=D551G	tolerated(0.18)	B7ZA64_HUMAN			YES	ATL2,missense_variant,p.Asp551Gly,ENST00000378954,NM_001135673.1,NM_022374.2;ATL2,missense_variant,p.Asp533Gly,ENST00000452935,;ATL2,missense_variant,p.Asp380Gly,ENST00000402054,;ATL2,missense_variant,p.Asp380Gly,ENST00000539122,;ATL2,3_prime_UTR_variant,,ENST00000406122,;ATL2,3_prime_UTR_variant,,ENST00000332337,;ATL2,3_prime_UTR_variant,,ENST00000419554,;ATL2,downstream_gene_variant,,ENST00000546051,;ATL2,3_prime_UTR_variant,,ENST00000405384,;ATL2,downstream_gene_variant,,ENST00000477642,;ATL2,downstream_gene_variant,,ENST00000489896,;							MODERATE	1652/1752	D551G	ATLA2_HUMAN			Transcript		benign(0.002)	.	ENSP00000368237		CCDS46260.1			1	
OR52N1	0	LGGM	GRCh37	11	5809963	5809963	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	29	9	.	.	ENST00000317078.1:c.84G>T	p.Trp28Cys	p.W28C	ENST00000317078	NM_001001913.1	28	tgG/tgT	0	1	1	UPI0000041BDD	0	NA	ENST00000317078		ENSG00000181001	14853		38	2.675		HGNC	p.W28C		OR52N1		SNV							ENST00000317078	protein_coding	getma.org/?cm=var&var=hg19,11,5809963,C,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF107,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		W/C		A	medium	84/963		getma.org/?cm=msa&ty=f&p=O52N1_HUMAN&rb=1&re=140&var=W28C	deleterious(0.01)				YES	OR52N1,missense_variant,p.Trp28Cys,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	84/963	W28C	O52N1_HUMAN			Transcript		benign(0.157)	.	ENSP00000322823		CCDS31398.1			1	
PRUNE2	0	LGGM	GRCh37	9	79318474	79318474	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H081003	H081003N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	70	9	.	.	ENST00000376718.3:c.8055T>G	p.Ser2685=	p.S2685=	ENST00000376718	NM_015225.2	2685	tcT/tcG	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		79			HGNC	p.S2326S		PRUNE2		SNV							ENST00000428286	protein_coding			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		S		C		8179/12584							YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							LOW	8055/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18777677	18777677	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	25	9	.	.	ENST00000380548.4:c.3450C>T	p.Thr1150=	p.T1150=	ENST00000380548	NM_001040272.5	1150	acC/acT	0	1	1	UPI000004FD83	0		ENST00000380548		ENSG00000178031	14632		34			HGNC	p.T1150T		ADAMTSL1		SNV							ENST00000380548	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723		T		T		3789/8030				H7BYE3_HUMAN			YES	ADAMTSL1,synonymous_variant,p.=,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;							LOW	3450/5289		ATL1_HUMAN			Transcript			.	ENSP00000369921		CCDS47954.1			1	
ADAMTS12	0	LGGM	GRCh37	5	33561260	33561260	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	37	9	.	.	ENST00000504830.1:c.3997G>A	p.Ala1333Thr	p.A1333T	ENST00000504830	NM_030955.2	1333	Gcc/Acc	0	1	1	UPI000013DC51	0	NA	ENST00000504830		ENSG00000151388	14605		46	0.04		HGNC	p.A1248T		ADAMTS12		SNV							ENST00000352040	protein_coding	getma.org/?cm=var&var=hg19,5,33561260,C,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		A/T		T	neutral	4333/8774		getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=1318&re=1365&var=A1333T	tolerated(0.07)				YES	ADAMTS12,missense_variant,p.Ala1333Thr,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Ala1248Thr,ENST00000352040,;							MODERATE	3997/4785	A1333T	ATS12_HUMAN			Transcript		benign(0.2)	.	ENSP00000422554		CCDS34140.1			1	
GANC	0	LGGM	GRCh37	15	42630687	42630687	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	by Submitter	H081003	H081003N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	40	11	.	.	ENST00000318010.8:c.1842A>C	p.Gly614=	p.G614=	ENST00000318010	NM_198141.2	614	ggA/ggC	0	1	1	UPI00001FE303	0		ENST00000318010		ENSG00000214013	4139		51			HGNC	p.G614G		GANC		SNV							ENST00000318010	protein_coding			Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF60,Superfamily_domains:SSF51445		G		C		2082/4512				H3BUE8_HUMAN,H3BPX5_HUMAN,H3BMW3_HUMAN,H3BMM3_HUMAN			YES	GANC,splice_region_variant,p.=,ENST00000318010,NM_198141.2;GANC,upstream_gene_variant,,ENST00000567596,;							LOW	1842/2745		GANC_HUMAN			Transcript			.	ENSP00000326227		CCDS10084.1			1	
TNFRSF10D	0	LGGM	GRCh37	8	23003370	23003370	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	17	11	.	.	ENST00000312584.3:c.547G>A	p.Glu183Lys	p.E183K	ENST00000312584	NM_003840.4	183	Gaa/Aaa	0	1	1	UPI0000167BBC	0	NA	ENST00000312584		ENSG00000173530	11907		28	1.355		HGNC	p.E183K	COSM3925025	TNFRSF10D		SNV						1	ENST00000312584	protein_coding	getma.org/?cm=var&var=hg19,8,23003370,C,T&fts=all		hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF89,Gene3D:2.10.50.10,Superfamily_domains:SSF57586		E/K		T	low	642/3538		getma.org/?cm=msa&ty=f&p=TR10D_HUMAN&rb=181&re=380&var=E183K	tolerated(0.55)				YES	TNFRSF10D,missense_variant,p.Glu183Lys,ENST00000312584,NM_003840.4;					1		MODERATE	547/1161	E183K	TR10D_HUMAN			Transcript		benign(0.008)	.	ENSP00000310263		CCDS6038.1			1	
RPS6KA5	0	LGGM	GRCh37	14	91372593	91372593	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	32	12	.	.	ENST00000261991.3:c.857C>A	p.Ala286Glu	p.A286E	ENST00000261991	NM_004755.2	286	gCg/gAg	0	1	1	UPI0000031C30	0	getma.org/pdb.php?prot=KS6A5_HUMAN&from=49&to=318&var=A286E	ENST00000261991		ENSG00000100784	10434		44	2.725		HGNC	p.A207E		RPS6KA5		SNV							ENST00000536315	protein_coding	getma.org/?cm=var&var=hg19,14,91372593,G,T&fts=all		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		A/E		T	medium	1031/4202		getma.org/?cm=msa&ty=f&p=KS6A5_HUMAN&rb=49&re=318&var=A286E	deleterious(0)	Q9UG98_HUMAN,B7Z2Y5_HUMAN			YES	RPS6KA5,missense_variant,p.Ala286Glu,ENST00000261991,NM_004755.2;RPS6KA5,missense_variant,p.Ala207Glu,ENST00000536315,;RPS6KA5,missense_variant,p.Ala286Glu,ENST00000418736,NM_182398.1;RPS6KA5,non_coding_transcript_exon_variant,,ENST00000556304,;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;RPS6KA5,3_prime_UTR_variant,,ENST00000554206,;							MODERATE	857/2409	A286E	KS6A5_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000261991		CCDS9893.1			1	
MYO9A	0	LGGM	GRCh37	15	72252438	72252438	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	38	13	.	.	ENST00000356056.5:c.1987-1G>A		p.X663_splice	ENST00000356056	NM_006901.3			0	1	1	UPI000013D213	0		ENST00000356056		ENSG00000066933	7608		51			HGNC	-		MYO9A		SNV							ENST00000356056	protein_coding							T		-/12409				H3BSU8_HUMAN,H3BMS3_HUMAN			YES	MYO9A,splice_acceptor_variant,,ENST00000356056,NM_006901.3;MYO9A,splice_acceptor_variant,,ENST00000424560,;MYO9A,splice_acceptor_variant,,ENST00000444904,;MYO9A,splice_acceptor_variant,,ENST00000564571,;MYO9A,splice_acceptor_variant,,ENST00000566885,;MYO9A,splice_acceptor_variant,,ENST00000563542,;MYO9A,splice_acceptor_variant,,ENST00000567560,;MYO9A,splice_acceptor_variant,,ENST00000567095,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563925,;MYO9A,upstream_gene_variant,,ENST00000563648,;							HIGH	1987/7647		MYO9A_HUMAN			Transcript			.	ENSP00000348349		CCDS10239.1			1	
ZNF805	0	LGGM	GRCh37	19	57765448	57765448	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	44	13	.	.	ENST00000414468.2:c.1261C>G	p.His421Asp	p.H421D	ENST00000414468	NM_001023563.3	421	Cac/Gac	0	1	1	UPI000041AAAF	0	getma.org/pdb.php?prot=ZN805_HUMAN&from=413&to=438&var=H421D	ENST00000414468		ENSG00000204524	23272		57	3.8		HGNC	p.H421D		ZNF805		SNV							ENST00000414468	protein_coding	getma.org/?cm=var&var=hg19,19,57765448,C,G&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24384:SF89,hmmpanther:PTHR24384,PROSITE_profiles:PS50157		H/D		G	high	1261/1884		getma.org/?cm=msa&ty=f&p=ZN805_HUMAN&rb=393&re=458&var=H421D	deleterious(0)	B9EIQ3_HUMAN			YES	ZNF805,missense_variant,p.His288Asp,ENST00000535550,NM_001145078.1;ZNF805,missense_variant,p.His288Asp,ENST00000354309,NM_001145078.1;ZNF805,missense_variant,p.His421Asp,ENST00000414468,NM_001023563.3;							MODERATE	1261/1884	H421D	ZN805_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412999		CCDS46207.1			1	
ATP12A	0	LGGM	GRCh37	13	25265229	25265229	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	21	14	.	.	ENST00000218548.6:c.927C>A	p.Ile309=	p.I309=	ENST00000218548	NM_001185085.1	309	atC/atA	0	1		UPI000016B154	0		ENST00000381946		ENSG00000075673	13816		35			HGNC	p.I309I		ATP12A		SNV							ENST00000218548	protein_coding			hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF282,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Superfamily_domains:0049473		I		A		1076/3538								ATP12A,synonymous_variant,p.=,ENST00000218548,NM_001185085.1,NM_001676.5;ATP12A,synonymous_variant,p.=,ENST00000381946,;							LOW	909/3120		AT12A_HUMAN			Transcript			.	ENSP00000371372		CCDS31948.1			1	
RPUSD4	0	LGGM	GRCh37	11	126080820	126080820	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081003	H081003N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	36	15	.	.	ENST00000298317.4:c.320T>A	p.Val107Glu	p.V107E	ENST00000298317	NM_032795.2	107	gTg/gAg	0	1	1	UPI0000071274	0	getma.org/pdb.php?prot=RUSD4_HUMAN&from=105&to=277&var=V107E	ENST00000298317		ENSG00000165526	25898		51	3.395		HGNC	p.V107E		RPUSD4		SNV							ENST00000533628	protein_coding	getma.org/?cm=var&var=hg19,11,126080820,A,T&fts=all		Pfam_domain:PF00849,hmmpanther:PTHR10436,hmmpanther:PTHR10436:SF48,Superfamily_domains:SSF55120		V/E		T	medium	374/2508		getma.org/?cm=msa&ty=f&p=RUSD4_HUMAN&rb=105&re=277&var=V107E	deleterious(0)	B4DUN4_HUMAN			YES	RPUSD4,missense_variant,p.Val107Glu,ENST00000298317,NM_032795.2;RPUSD4,missense_variant,p.Val107Glu,ENST00000533628,NM_001144827.1;RPUSD4,missense_variant,p.Val107Glu,ENST00000532674,;FAM118B,upstream_gene_variant,,ENST00000533050,NM_024556.3;FAM118B,upstream_gene_variant,,ENST00000360194,;FAM118B,upstream_gene_variant,,ENST00000528985,;FAM118B,upstream_gene_variant,,ENST00000529731,;FAM118B,upstream_gene_variant,,ENST00000530043,;RNU4-86P,downstream_gene_variant,,ENST00000410135,;RP11-50B3.4,upstream_gene_variant,,ENST00000532866,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000534393,;FAM118B,upstream_gene_variant,,ENST00000525728,;RPUSD4,upstream_gene_variant,,ENST00000530036,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000526942,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000532800,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000525812,;RPUSD4,upstream_gene_variant,,ENST00000530903,;							MODERATE	320/1134	V107E	RUSD4_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000298317		CCDS8469.1			1	
TMEM179B	0	LGGM	GRCh37	11	62556582	62556582	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	45	15	.	.	ENST00000333449.4:c.184C>T	p.Leu62=	p.L62=	ENST00000333449	NM_199337.2	62	Ctg/Ttg	0	1	1	UPI000019AB69	0		ENST00000333449		ENSG00000185475	33744		60			HGNC	p.L62L	rs761099032	TMEM179B	6.06E-05	SNV				9.61E-05			ENST00000333449	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR31056:SF1,hmmpanther:PTHR31056		L		T		189/1023							YES	TMEM179B,synonymous_variant,p.=,ENST00000333449,NM_199337.2;TMEM179B,synonymous_variant,p.=,ENST00000533861,;TMEM223,intron_variant,,ENST00000528367,;TMEM223,intron_variant,,ENST00000525631,;NXF1,downstream_gene_variant,,ENST00000531709,NM_001081491.1;NXF1,downstream_gene_variant,,ENST00000532297,;NXF1,downstream_gene_variant,,ENST00000294172,NM_006362.4;TAF6L,downstream_gene_variant,,ENST00000294168,NM_006473.3;TMEM223,downstream_gene_variant,,ENST00000307366,NM_001080501.2;NXF1,downstream_gene_variant,,ENST00000527902,;TMEM179B,upstream_gene_variant,,ENST00000526546,;RP11-727F15.12,upstream_gene_variant,,ENST00000601484,;TMEM223,intron_variant,,ENST00000527073,;NXF1,downstream_gene_variant,,ENST00000533048,;TMEM179B,non_coding_transcript_exon_variant,,ENST00000532345,;TMEM179B,intron_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533499,;NXF1,downstream_gene_variant,,ENST00000527497,;							LOW	184/660		T179B_HUMAN			Transcript			.	ENSP00000333697	1.65E-05	CCDS8036.1			1	
NRAP	0	LGGM	GRCh37	10	115409810	115409810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	94	16	.	.	ENST00000359988.3:c.874G>T	p.Asp292Tyr	p.D292Y	ENST00000359988	NM_001261463.1	292	Gac/Tac	0	1	1	UPI00001F9739	0	NA	ENST00000359988		ENSG00000197893	7988		110	1.87		HGNC	p.D292Y		NRAP		SNV							ENST00000369360	protein_coding	getma.org/?cm=var&var=hg19,10,115409810,C,A&fts=all		hmmpanther:PTHR11039		D/Y		A	low	1119/5580		getma.org/?cm=msa&ty=f&p=NRAP_HUMAN&rb=238&re=314&var=D292Y	deleterious(0)				YES	NRAP,missense_variant,p.Asp292Tyr,ENST00000369358,;NRAP,missense_variant,p.Asp292Tyr,ENST00000359988,NM_001261463.1,NM_198060.3;NRAP,missense_variant,p.Asp292Tyr,ENST00000369360,;NRAP,missense_variant,p.Asp292Tyr,ENST00000360478,NM_006175.4;							MODERATE	874/5193	D292Y	NRAP_HUMAN			Transcript		benign(0.361)	.	ENSP00000353078		CCDS7579.1			1	
NOS3	0	LGGM	GRCh37	7	150696312	150696312	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	30	16	.	.	ENST00000297494.3:c.991T>C	p.Tyr331His	p.Y331H	ENST00000297494	NM_000603.4	331	Tac/Cac	0	1	1	UPI000013E417	0	getma.org/pdb.php?prot=NOS3_HUMAN&from=115&to=486&var=Y331H	ENST00000297494		ENSG00000164867	7876		46	1.945		HGNC	p.Y331H		NOS3		SNV			1				ENST00000484524	protein_coding	getma.org/?cm=var&var=hg19,7,150696312,T,C&fts=all		hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF66,Gene3D:3.90.1230.10,Pfam_domain:PF02898,PIRSF_domain:PIRSF000333,Superfamily_domains:SSF56512		Y/H		C	medium	1348/4388		getma.org/?cm=msa&ty=f&p=NOS3_HUMAN&rb=115&re=486&var=Y331H	deleterious(0.01)	Q96P37_HUMAN,Q96J98_HUMAN,O14937_HUMAN,E7ESA7_HUMAN			YES	NOS3,missense_variant,p.Tyr331His,ENST00000297494,NM_000603.4;NOS3,missense_variant,p.Tyr125His,ENST00000461406,;NOS3,missense_variant,p.Tyr331His,ENST00000484524,NM_001160111.1;NOS3,missense_variant,p.Tyr331His,ENST00000467517,NM_001160110.1,NM_001160109.1;NOS3,upstream_gene_variant,,ENST00000460603,;							MODERATE	991/3612	Y331H	NOS3_HUMAN			Transcript		benign(0.329)	.	ENSP00000297494		CCDS5912.1			1	
GNAZ	0	LGGM	GRCh37	22	23438010	23438010	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081003	H081003N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	39	16	.	.	ENST00000248996.4:c.128A>G	p.Asn43Ser	p.N43S	ENST00000248996	NM_002073.2	43	aAc/aGc	0	1	1	UPI0000001249	0	getma.org/pdb.php?prot=GNAZ_HUMAN&from=2&to=355&var=N43S	ENST00000248996	not_provided	ENSG00000128266	4395		55	0.255		HGNC	p.N43S	rs267606186,COSM142288	GNAZ		SNV						1,1	ENST00000248996	protein_coding	getma.org/?cm=var&var=hg19,22,23438010,A,G&fts=all		Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF65,hmmpanther:PTHR10218		N/S		G	neutral	794/3340		getma.org/?cm=msa&ty=f&p=GNAZ_HUMAN&rb=2&re=355&var=N43S	deleterious(0)				YES	GNAZ,missense_variant,p.Asn43Ser,ENST00000248996,NM_002073.2;RTDR1,intron_variant,,ENST00000216036,NM_014433.2;GNAZ,downstream_gene_variant,,ENST00000492538,;					0,1		MODERATE	128/1068	N43S	GNAZ_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000248996		CCDS13804.1			1	
HTR7	0	LGGM	GRCh37	10	92617080	92617080	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	43	20	.	.	ENST00000336152.3:c.349A>G	p.Asn117Asp	p.N117D	ENST00000336152	NM_019859.3	117	Aac/Gac	0	1	1	UPI0000049B68	0	getma.org/pdb.php?prot=5HT7R_HUMAN&from=98&to=384&var=N117D	ENST00000336152		ENSG00000148680	5302		63	3.43		HGNC	p.N117D		HTR7		SNV							ENST00000336152	protein_coding	getma.org/?cm=var&var=hg19,10,92617080,T,C&fts=all		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		N/D		C	medium	376/3126		getma.org/?cm=msa&ty=f&p=5HT7R_HUMAN&rb=98&re=384&var=N117D	deleterious(0)				YES	HTR7,missense_variant,p.Asn117Asp,ENST00000371721,;HTR7,missense_variant,p.Asn117Asp,ENST00000336152,NM_019859.3;HTR7,missense_variant,p.Asn117Asp,ENST00000371719,NM_019860.3;HTR7,missense_variant,p.Asn117Asp,ENST00000277874,NM_000872.4;							MODERATE	349/1440	N117D	5HT7R_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337949		CCDS7408.1			1	
CCPG1	0	LGGM	GRCh37	15	55664132	55664132	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	38	20	.	.	ENST00000442196.3:c.565G>A	p.Glu189Lys	p.E189K	ENST00000442196		189	Gaa/Aaa	0	1		UPI000013F0C7	0	NA	ENST00000310958		ENSG00000260916	24227		58	2.39		HGNC	p.E189K		CCPG1		SNV							ENST00000442196	protein_coding	getma.org/?cm=var&var=hg19,15,55664132,C,T&fts=all				E/K		T	medium	864/6822		getma.org/?cm=msa&ty=f&p=CCPG1_HUMAN&rb=1&re=315&var=E189K	deleterious(0.01)	H3BTZ1_HUMAN,H3BR24_HUMAN				CCPG1,missense_variant,p.Glu189Lys,ENST00000310958,NM_001204451.1,NM_001204450.1,NM_020739.3,NM_004748.4;CCPG1,missense_variant,p.Glu189Lys,ENST00000442196,;CCPG1,missense_variant,p.Glu189Lys,ENST00000569205,;CCPG1,missense_variant,p.Glu189Lys,ENST00000425574,;CCPG1,missense_variant,p.Glu221Lys,ENST00000563171,;CCPG1,downstream_gene_variant,,ENST00000570272,;MIR628,downstream_gene_variant,,ENST00000385229,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;CCPG1,3_prime_UTR_variant,,ENST00000568808,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;							MODERATE	565/2274	E189K	CCPG1_HUMAN			Transcript		possibly_damaging(0.782)	.	ENSP00000311656		CCDS42039.1			1	
PRICKLE2	0	LGGM	GRCh37	3	64085558	64085558	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	60	21	.	.	ENST00000295902.6:c.1704C>T	p.Ser568=	p.S568=	ENST00000295902	NM_198859.3	568	tcC/tcT	0	1	1	UPI0000160A8B	0		ENST00000295902		ENSG00000163637	20340		81			HGNC	p.S568S		PRICKLE2		SNV			1				ENST00000295902	protein_coding			hmmpanther:PTHR24218,hmmpanther:PTHR24218:SF5		S		A		2290/8305				C9JY03_HUMAN			YES	PRICKLE2,synonymous_variant,p.=,ENST00000295902,NM_198859.3;PRICKLE2,synonymous_variant,p.=,ENST00000564377,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS1,intron_variant,,ENST00000476308,;PRICKLE2-AS1,intron_variant,,ENST00000460946,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;							LOW	1704/2535		PRIC2_HUMAN			Transcript			.	ENSP00000295902		CCDS2902.1			1	
TULP1	0	LGGM	GRCh37	6	35478685	35478685	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	45	21	.	.	ENST00000229771.6:c.452G>A	p.Ser151Asn	p.S151N	ENST00000229771	NM_003322.3	151	aGc/aAc	0	1	1	UPI000045742A	0	NA	ENST00000229771		ENSG00000112041	12423		66	0.345		HGNC	p.S98N		TULP1		SNV			1				ENST00000322263	protein_coding	getma.org/?cm=var&var=hg19,6,35478685,C,T&fts=all		hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF12		S/N		T	neutral	532/2162		getma.org/?cm=msa&ty=f&p=TULP1_HUMAN&rb=1&re=275&var=S151N	deleterious_low_confidence(0.01)	Q0QD38_HUMAN			YES	TULP1,missense_variant,p.Ser151Asn,ENST00000229771,NM_003322.3;TULP1,missense_variant,p.Ser98Asn,ENST00000322263,;TULP1,missense_variant,p.Ser103Asn,ENST00000428978,;TULP1,non_coding_transcript_exon_variant,,ENST00000448446,;TULP1,intron_variant,,ENST00000373892,;TULP1,upstream_gene_variant,,ENST00000496434,;							MODERATE	452/1629	S151N	TULP1_HUMAN			Transcript		benign(0.052)	.	ENSP00000229771		CCDS4807.1			1	
PKP4	0	LGGM	GRCh37	2	159490585	159490585	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	56	21	.	.	ENST00000389759.3:c.1346G>A	p.Gly449Asp	p.G449D	ENST00000389759	NM_003628.3	449	gGt/gAt	0	1	1	UPI000044D379	0	NA	ENST00000389759		ENSG00000144283	9026		77	2.05		HGNC	p.G449D		PKP4		SNV							ENST00000389759	protein_coding	getma.org/?cm=var&var=hg19,2,159490585,G,A&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8		G/D		A	medium	1458/4443		getma.org/?cm=msa&ty=f&p=PKP4_HUMAN&rb=273&re=472&var=G449D	tolerated(0.08)	Q53TM5_HUMAN			YES	PKP4,missense_variant,p.Gly449Asp,ENST00000389757,NM_001005476.1;PKP4,missense_variant,p.Gly449Asp,ENST00000389759,NM_003628.3;PKP4,non_coding_transcript_exon_variant,,ENST00000494945,;PKP4,splice_region_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000421462,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,downstream_gene_variant,,ENST00000481115,;							MODERATE	1346/3579	G449D	PKP4_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000374409		CCDS33305.1			1	
LPAR1	0	LGGM	GRCh37	9	113704127	113704127	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	66	22	.	.	ENST00000374431.3:c.367C>A	p.Leu123Ile	p.L123I	ENST00000374431	NM_057159.2	123	Ctt/Att	0	1		UPI000011DBF9	0	getma.org/pdb.php?prot=LPAR1_HUMAN&from=66&to=311&var=L123I	ENST00000358883		ENSG00000198121	3166		88	0.415		HGNC	p.L124I		LPAR1		SNV							ENST00000538760	protein_coding	getma.org/?cm=var&var=hg19,9,113704127,G,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR01148,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF22,PROSITE_profiles:PS50262		L/I		T	neutral	715/2687		getma.org/?cm=msa&ty=f&p=LPAR1_HUMAN&rb=66&re=311&var=L123I	tolerated(0.59)	Q6GPG7_HUMAN,Q5VZX0_HUMAN,B1AP63_HUMAN				LPAR1,missense_variant,p.Leu123Ile,ENST00000374431,NM_057159.2;LPAR1,missense_variant,p.Leu124Ile,ENST00000541779,;LPAR1,missense_variant,p.Leu123Ile,ENST00000374430,;LPAR1,missense_variant,p.Leu123Ile,ENST00000358883,NM_001401.3;LPAR1,missense_variant,p.Leu124Ile,ENST00000538760,;LPAR1,missense_variant,p.Leu123Ile,ENST00000441240,;							MODERATE	367/1095	L123I	LPAR1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000351755		CCDS6777.1			1	
KRTAP6-1	0	LGGM	GRCh37	21	31986137	31986137	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	91	27	.	.	ENST00000329122.2:c.87C>A	p.Gly29=	p.G29=	ENST00000329122	NM_181602.1	29	ggC/ggA	0	1	1	UPI00001A9E58	0		ENST00000329122		ENSG00000184724	18931		118			HGNC	p.G29G		KRTAP6-1		SNV							ENST00000329122	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR31678:SF2,hmmpanther:PTHR31678		G		T		113/500							YES	KRTAP6-1,synonymous_variant,p.=,ENST00000329122,NM_181602.1;KRTAP20-1,upstream_gene_variant,,ENST00000334664,NM_181615.1;							LOW	87/216		KRA61_HUMAN			Transcript			.	ENSP00000332690		CCDS13602.1			1	
USP8	0	LGGM	GRCh37	15	50788145	50788145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	37	28	.	.	ENST00000433963.1:c.2759C>T	p.Ser920Phe	p.S920F	ENST00000433963	NM_001128611.1	920	tCt/tTt	0	1		UPI0000030306	0	getma.org/pdb.php?prot=UBP8_HUMAN&from=774&to=1106&var=S920F	ENST00000307179		ENSG00000138592	12631		65	4.22		HGNC	p.S920F		USP8		SNV			1				ENST00000307179	protein_coding	getma.org/?cm=var&var=hg19,15,50788145,C,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350,Pfam_domain:PF00443,Superfamily_domains:SSF54001		S/F		T	high	2957/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=774&re=1106&var=S920F	deleterious(0)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Ser920Phe,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Ser920Phe,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Ser920Phe,ENST00000307179,;USP8,missense_variant,p.Ser814Phe,ENST00000425032,NM_001283049.1;USP50,downstream_gene_variant,,ENST00000532404,NM_203494.4;RP11-562A8.5,intron_variant,,ENST00000560159,;RP11-562A8.4,downstream_gene_variant,,ENST00000560380,;USP50,downstream_gene_variant,,ENST00000530218,;USP8,non_coding_transcript_exon_variant,,ENST00000419830,;USP8,upstream_gene_variant,,ENST00000560379,;USP50,downstream_gene_variant,,ENST00000559105,;							MODERATE	2759/3357	S920F	UBP8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000302239		CCDS10137.1			1	
TBRG4	0	LGGM	GRCh37	7	45148484	45148484	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081003	H081003N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	64	29	.	.	ENST00000258770.3:c.353A>T	p.Lys118Ile	p.K118I	ENST00000258770	NM_004749.3	118	aAa/aTa	0	1	1	UPI0000071F89	0	NA	ENST00000258770		ENSG00000136270	17443		93	1.95		HGNC	p.K118I		TBRG4		SNV							ENST00000475893	protein_coding	getma.org/?cm=var&var=hg19,7,45148484,T,A&fts=all		hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF26		K/I		A	medium	475/2243		getma.org/?cm=msa&ty=f&p=TBRG4_HUMAN&rb=1&re=200&var=K118I	deleterious(0.01)	D3DVL7_HUMAN,C9J7P5_HUMAN,C9J618_HUMAN,C9J5A2_HUMAN,C9J347_HUMAN,B4DU42_HUMAN,B3KRS4_HUMAN			YES	TBRG4,missense_variant,p.Lys118Ile,ENST00000258770,NM_004749.3;TBRG4,missense_variant,p.Lys118Ile,ENST00000395655,;TBRG4,missense_variant,p.Lys118Ile,ENST00000494076,NM_001261834.1;TBRG4,missense_variant,p.Lys118Ile,ENST00000361278,NM_030900.3,NM_199122.2;TBRG4,missense_variant,p.Lys64Ile,ENST00000461363,;TBRG4,missense_variant,p.Lys118Ile,ENST00000475893,;TBRG4,missense_variant,p.Lys118Ile,ENST00000482285,;TBRG4,intron_variant,,ENST00000478532,;TBRG4,upstream_gene_variant,,ENST00000483615,;TBRG4,downstream_gene_variant,,ENST00000495078,;SNORA5C,upstream_gene_variant,,ENST00000364902,NR_002991.1;SNORA5A,upstream_gene_variant,,ENST00000384111,NR_002919.1;SNORA5B,upstream_gene_variant,,ENST00000363786,NR_002990.1;TBRG4,non_coding_transcript_exon_variant,,ENST00000471142,;TBRG4,non_coding_transcript_exon_variant,,ENST00000477328,;TBRG4,upstream_gene_variant,,ENST00000495973,;TBRG4,upstream_gene_variant,,ENST00000488222,;TBRG4,upstream_gene_variant,,ENST00000484326,;							MODERATE	353/1896	K118I	TBRG4_HUMAN			Transcript		possibly_damaging(0.635)	.	ENSP00000258770		CCDS5501.1			1	
EYA3	0	LGGM	GRCh37	1	28354403	28354403	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081003	H081003N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	45	29	.	.	ENST00000373871.3:c.396T>C	p.Gly132=	p.G132=	ENST00000373871		132	ggT/ggC	0	1	1	UPI000015FFE5	0		ENST00000373871		ENSG00000158161	3521		74			HGNC	p.G6G		EYA3		SNV							ENST00000436342	protein_coding			hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF5		G		G		637/6085				B4DNZ7_HUMAN			YES	EYA3,synonymous_variant,p.=,ENST00000373871,;EYA3,synonymous_variant,p.=,ENST00000436342,NM_001990.3;EYA3,synonymous_variant,p.=,ENST00000545175,NM_001282562.1;EYA3,intron_variant,,ENST00000373864,;EYA3,intron_variant,,ENST00000540618,NM_001282561.1;EYA3,intron_variant,,ENST00000373863,NM_001282560.1;RN7SL559P,downstream_gene_variant,,ENST00000476501,;EYA3,non_coding_transcript_exon_variant,,ENST00000471498,;EYA3,intron_variant,,ENST00000468665,;							LOW	396/1722		EYA3_HUMAN			Transcript			.	ENSP00000362978		CCDS316.1			1	
OR2L2	0	LGGM	GRCh37	1	248202332	248202332	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	151	40	.	.	ENST00000366479.2:c.763G>T	p.Ala255Ser	p.A255S	ENST00000366479	NM_001004686.2	255	Gct/Tct	0	1	1	UPI0000061EAA	0	NA	ENST00000366479		ENSG00000203663	8266		191	0.26		HGNC	p.A255S		OR2L2		SNV							ENST00000366479	protein_coding	getma.org/?cm=var&var=hg19,1,248202332,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		A/S		T	neutral	859/1134		getma.org/?cm=msa&ty=f&p=OR2L5_HUMAN&rb=138&re=282&var=A255S	deleterious(0.01)				YES	OR2L2,missense_variant,p.Ala255Ser,ENST00000366479,NM_001004686.2;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	763/939	A255S	OR2L2_HUMAN			Transcript		benign(0.082)	.	ENSP00000355435		CCDS31103.1			1	
GPLD1	0	LGGM	GRCh37	6	24475408	24475408	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	45	42	.	.	ENST00000230036.1:c.382G>A	p.Ala128Thr	p.A128T	ENST00000230036	NM_001503.3	128	Gca/Aca	0	1	1	UPI000013C91C	0	NA	ENST00000230036		ENSG00000112293	4459		87	2.51		HGNC	p.A128T	rs773153325	GPLD1		SNV							ENST00000599624	protein_coding	getma.org/?cm=var&var=hg19,6,24475408,C,T&fts=all		hmmpanther:PTHR23221:SF7,hmmpanther:PTHR23221,Pfam_domain:PF00882		A/T		T	medium	493/3489		getma.org/?cm=msa&ty=f&p=PHLD_HUMAN&rb=28&re=219&var=A128T	deleterious(0)				YES	GPLD1,missense_variant,p.Ala128Thr,ENST00000230036,NM_001503.3;GPLD1,non_coding_transcript_exon_variant,,ENST00000474784,;GPLD1,non_coding_transcript_exon_variant,,ENST00000475417,;GPLD1,non_coding_transcript_exon_variant,,ENST00000378243,;GPLD1,non_coding_transcript_exon_variant,,ENST00000486892,;	0.000116						MODERATE	382/2523	A128T	PHLD_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000230036	8.24E-06	CCDS4553.1			1	
CATSPER2	0	LGGM	GRCh37	15	43940155	43940155	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	180	46	.	.	ENST00000321596.5:c.105G>A	p.Leu35=	p.L35=	ENST00000321596		35	ttG/ttA	0	1	1	UPI000006DE3A	0		ENST00000321596		ENSG00000166762	18810		226			HGNC	p.L35L		CATSPER2		SNV			1				ENST00000354127	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF189		L		T		305/1820				E7EX46_HUMAN,B8ZZQ9_HUMAN			YES	CATSPER2,synonymous_variant,p.=,ENST00000396879,NM_001282309.1;CATSPER2,synonymous_variant,p.=,ENST00000354127,NM_054020.2,NM_172095.1;CATSPER2,synonymous_variant,p.=,ENST00000321596,;CATSPER2,synonymous_variant,p.=,ENST00000381761,NM_001282310.1;CATSPER2,synonymous_variant,p.=,ENST00000355438,;CATSPER2,synonymous_variant,p.=,ENST00000409481,;CATSPER2,synonymous_variant,p.=,ENST00000432420,;STRC,intron_variant,,ENST00000541030,;CATSPER2,intron_variant,,ENST00000464721,;CATSPER2,synonymous_variant,p.=,ENST00000433380,;CATSPER2,non_coding_transcript_exon_variant,,ENST00000469461,;CATSPER2,non_coding_transcript_exon_variant,,ENST00000415968,;PDIA3P2,upstream_gene_variant,,ENST00000428073,;							LOW	105/1593		CTSR2_HUMAN			Transcript			.	ENSP00000321463		CCDS10099.1			1	
GOLGA5	0	LGGM	GRCh37	14	93303735	93303735	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081003	H081003N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	155	56	.	.	ENST00000163416.2:c.2056C>T	p.Arg686Cys	p.R686C	ENST00000163416	NM_005113.3	686	Cgc/Tgc	0	1	1	UPI000013C5AA	0	NA	ENST00000163416		ENSG00000066455	4428		211	2.58		HGNC	p.R686C	COSM1371631	GOLGA5		SNV			1			1	ENST00000163416	protein_coding	getma.org/?cm=var&var=hg19,14,93303735,C,T&fts=all		Pfam_domain:PF09787,hmmpanther:PTHR13815:SF5,hmmpanther:PTHR13815		R/C		T	medium	2312/2969		getma.org/?cm=msa&ty=f&p=GOGA5_HUMAN&rb=235&re=711&var=R686C	deleterious(0)				YES	GOLGA5,missense_variant,p.Arg686Cys,ENST00000163416,NM_005113.3;GOLGA5,intron_variant,,ENST00000355976,;GOLGA5,intron_variant,,ENST00000554700,;					1		MODERATE	2056/2196	R686C	GOGA5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000163416		CCDS9905.1			1	
LDB3	0	LGGM	GRCh37	10	88459082	88459082	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	73	60	.	.	ENST00000429277.2:c.1100+6754G>A		*367*	ENST00000429277	NM_001171610.1			0	1		UPI000034ECFC	0	NA	ENST00000361373		ENSG00000122367	15710		133	1.75		HGNC	p.R383H	rs751981682,COSM3665933	LDB3		SNV			1			0,1	ENST00000372056	protein_coding	getma.org/?cm=var&var=hg19,10,88459082,G,A&fts=all						A	low	-/5297	1.50E-05	getma.org/?cm=msa&ty=f&p=B4DUL3_HUMAN&rb=66&re=265&var=R252H						LDB3,missense_variant,p.Arg383His,ENST00000372056,NM_001171611.1;LDB3,missense_variant,p.Arg315His,ENST00000310944,NM_001080115.1;LDB3,missense_variant,p.Arg268His,ENST00000372066,NM_001080116.1;LDB3,3_prime_UTR_variant,,ENST00000542786,;LDB3,intron_variant,,ENST00000429277,NM_001171610.1;LDB3,intron_variant,,ENST00000361373,NM_007078.2;LDB3,intron_variant,,ENST00000458213,;LDB3,intron_variant,,ENST00000263066,NM_001080114.1;LDB3,intron_variant,,ENST00000352360,;					0,1		MODIFIER	-/2184	R252H	LDB3_HUMAN			Transcript			.	ENSP00000355296	8.27E-06	CCDS7377.1			1	
FER1L6	0	LGGM	GRCh37	8	124988265	124988265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081003	H081003N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081003N.bam, H081003T.bam	Illumina HiSeq	88	61	.	.	ENST00000522917.1:c.811G>T	p.Val271Leu	p.V271L	ENST00000522917	NM_001039112.2	271	Gtg/Ttg	0	1		UPI0000E9B4AA	0	NA	ENST00000399018		ENSG00000214814	28065		149	0.97		HGNC	p.V271L		FER1L6		SNV							ENST00000399018	protein_coding	getma.org/?cm=var&var=hg19,8,124988265,G,T&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		V/L		T	low	825/5859		getma.org/?cm=msa&ty=f&p=FR1L6_HUMAN&rb=245&re=339&var=V271L	tolerated(0.13)					FER1L6,missense_variant,p.Val271Leu,ENST00000522917,NM_001039112.2;FER1L6,missense_variant,p.Val271Leu,ENST00000399018,;							MODERATE	811/5574	V271L	FR1L6_HUMAN			Transcript		benign(0.103)	.	ENSP00000381982		CCDS43767.1			1	
NELFA	0	LGGM	GRCh37	4	1985779	1985779	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	0	2	.	.	ENST00000382882.3:c.1131G>T	p.Leu377Phe	p.L377F	ENST00000382882		377	ttG/ttT	0	1		UPI0000038D6D	0	NA	ENST00000411638		ENSG00000185049	12768		2	1.995		HGNC	p.L377F		NELFA		SNV			1				ENST00000382882	protein_coding	getma.org/?cm=var&var=hg19,4,1985779,C,A&fts=all		hmmpanther:PTHR13328,Low_complexity_(Seg):seg		L/F		A	medium	1114/2199		getma.org/?cm=msa&ty=f&p=NELFA_HUMAN&rb=1&re=526&var=L366F	tolerated(0.33)	C9JEM7_HUMAN,B3KSP0_HUMAN				NELFA,missense_variant,p.Leu377Phe,ENST00000382882,;NELFA,missense_variant,p.Leu366Phe,ENST00000411638,NM_005663.4;NELFA,missense_variant,p.Leu370Phe,ENST00000416258,;NELFA,missense_variant,p.Leu231Phe,ENST00000542778,;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,,ENST00000453740,;NELFA,downstream_gene_variant,,ENST00000411649,;MIR943,downstream_gene_variant,,ENST00000401286,;WHSC1,downstream_gene_variant,,ENST00000482415,;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,;							MODERATE	1098/1587	L366F	NELFA_HUMAN			Transcript		possibly_damaging(0.718)	.	ENSP00000399165					1	
VASN	0	LGGM	GRCh37	16	4431974	4431974	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	3	2	.	.	ENST00000304735.3:c.1096C>A	p.Arg366=	p.R366=	ENST00000304735	NM_138440.2	366	Cgg/Agg	0	1	1	UPI000003E779	0		ENST00000304735		ENSG00000168140	18517		5			HGNC	p.R366R		VASN		SNV							ENST00000304735	protein_coding			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF256,Low_complexity_(Seg):seg		R		A		1251/2806							YES	VASN,synonymous_variant,p.=,ENST00000304735,NM_138440.2;CORO7,intron_variant,,ENST00000251166,NM_024535.4;CORO7,intron_variant,,ENST00000539968,;CORO7,intron_variant,,ENST00000537233,NM_001201472.1;CORO7-PAM16,intron_variant,,ENST00000572467,NM_001201479.1;CORO7,intron_variant,,ENST00000574025,NM_001201473.1;CORO7,intron_variant,,ENST00000423908,;CORO7,intron_variant,,ENST00000572549,;CORO7,intron_variant,,ENST00000572044,;CORO7-PAM16,intron_variant,,ENST00000575334,;CORO7,intron_variant,,ENST00000571227,;CORO7,intron_variant,,ENST00000575714,;CORO7,intron_variant,,ENST00000571756,;CORO7,intron_variant,,ENST00000574311,;CORO7,intron_variant,,ENST00000576437,;							LOW	1096/2022		VASN_HUMAN			Transcript			.	ENSP00000306864		CCDS10514.1			1	
KMT2D	0	LGGM	GRCh37	12	49439958	49439958	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	26	3	.	.	ENST00000301067.7:c.4584-1G>T		p.X1528_splice	ENST00000301067	NM_003482.3			0	1	1	UPI0000EE84D6	0		ENST00000301067		ENSG00000167548	7133		29			HGNC	-		KMT2D		SNV			1				ENST00000301067	protein_coding							A		-/19419				Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,splice_acceptor_variant,,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000550356,;							HIGH	4584/16614		KMT2D_HUMAN			Transcript			.	ENSP00000301067		CCDS44873.1			1	
FBXW11	0	LGGM	GRCh37	5	171303378	171303378	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	30	3	.	.	ENST00000265094.5:c.1069C>A	p.Arg357Ser	p.R357S	ENST00000265094	NM_012300.2	357	Cgt/Agt	0	1	1	UPI000012ADB8	0	getma.org/pdb.php?prot=FBW1B_HUMAN&from=353&to=389&var=R357S	ENST00000265094		ENSG00000072803	13607		33	1.94		HGNC	p.R357S		FBXW11		SNV							ENST00000265094	protein_coding	getma.org/?cm=var&var=hg19,5,171303378,G,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22844:SF123,hmmpanther:PTHR22844,PROSITE_profiles:PS50294		R/S		T	medium	1207/4342		getma.org/?cm=msa&ty=f&p=FBW1B_HUMAN&rb=353&re=389&var=R357S	deleterious(0.03)				YES	FBXW11,missense_variant,p.Arg344Ser,ENST00000296933,NM_033645.2,NM_033644.2;FBXW11,missense_variant,p.Arg357Ser,ENST00000265094,NM_012300.2;FBXW11,missense_variant,p.Arg323Ser,ENST00000393802,;FBXW11,missense_variant,p.Arg325Ser,ENST00000425623,;FBXW11,downstream_gene_variant,,ENST00000522891,;FBXW11,upstream_gene_variant,,ENST00000522376,;FBXW11,3_prime_UTR_variant,,ENST00000523843,;							MODERATE	1069/1629	R357S	FBW1B_HUMAN			Transcript		benign(0.26)	.	ENSP00000265094		CCDS34289.1			1	
ZNF384	0	LGGM	GRCh37	12	6778272	6778272	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	27	3	.	.	ENST00000396801.3:c.1257G>T	p.Glu419Asp	p.E419D	ENST00000396801	NM_001135734.2	419	gaG/gaT	0	1		UPI00001AE6F8	0	getma.org/pdb.php?prot=ZN384_HUMAN&from=403&to=425&var=E419D	ENST00000361959		ENSG00000126746	11955		30	-0.21		HGNC	p.E358D		ZNF384		SNV							ENST00000396795	protein_coding	getma.org/?cm=var&var=hg19,12,6778272,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF332,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/D		A	neutral	1517/2978		getma.org/?cm=msa&ty=f&p=ZN384_HUMAN&rb=383&re=445&var=E419D	tolerated(0.1)	F5H3Z9_HUMAN,F5H105_HUMAN,F5H0D6_HUMAN,F5GYZ1_HUMAN,D3DUR9_HUMAN,B4DQU6_HUMAN,A9X425_HUMAN				ZNF384,missense_variant,p.Glu358Asp,ENST00000396795,;ZNF384,missense_variant,p.Glu342Asp,ENST00000319770,;ZNF384,missense_variant,p.Glu419Asp,ENST00000396801,NM_001135734.2;ZNF384,missense_variant,p.Glu419Asp,ENST00000361959,;ZNF384,missense_variant,p.Glu303Asp,ENST00000355772,NM_001039920.2;ZNF384,missense_variant,p.Glu358Asp,ENST00000396799,NM_133476.4;ZNF384,missense_variant,p.Glu18Asp,ENST00000545946,;ZNF384,downstream_gene_variant,,ENST00000417772,;ZNF384,downstream_gene_variant,,ENST00000436774,;RP4-761J14.8,intron_variant,,ENST00000586338,;RP4-761J14.8,downstream_gene_variant,,ENST00000589924,;ZNF384,downstream_gene_variant,,ENST00000542519,;ZNF384,downstream_gene_variant,,ENST00000537383,;							MODERATE	1257/1734	E419D	ZN384_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000354592		CCDS44817.1			1	
ZNF484	0	LGGM	GRCh37	9	95609801	95609801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	45	3	.	.	ENST00000395506.3:c.1274G>T	p.Arg425Leu	p.R425L	ENST00000395506		425	cGg/cTg	0	1		UPI00001B64FA	0	getma.org/pdb.php?prot=ZN484_HUMAN&from=398&to=423&var=R423L	ENST00000375495		ENSG00000127081	23385		48	1.155		HGNC	p.R425L		ZNF484		SNV							ENST00000395506	protein_coding	getma.org/?cm=var&var=hg19,9,95609801,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF144,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/L		A	low	1417/2867		getma.org/?cm=msa&ty=f&p=ZN484_HUMAN&rb=378&re=443&var=R423L	tolerated(0.32)					ZNF484,missense_variant,p.Arg387Leu,ENST00000395505,NM_001261460.1,NM_001261459.1;ZNF484,missense_variant,p.Arg423Leu,ENST00000375495,NM_031486.2;ZNF484,missense_variant,p.Arg425Leu,ENST00000395506,;ZNF484,missense_variant,p.Arg387Leu,ENST00000332591,NM_001007101.2,NM_001261458.1;ANKRD19P,intron_variant,,ENST00000473204,;							MODERATE	1268/2559	R423L	ZN484_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000364645		CCDS35066.1			1	
TYRP1	0	LGGM	GRCh37	9	12698639	12698639	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	37	3	.	.	ENST00000388918.5:c.897G>T	p.Leu299=	p.L299=	ENST00000388918	NM_000550.2	299	ctG/ctT	0	1	1	UPI0000039DCA	0		ENST00000388918		ENSG00000107165	12450		40			HGNC	p.L299L		TYRP1		SNV			1				ENST00000388918	protein_coding			hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF3,Gene3D:1.10.1280.10,Pfam_domain:PF00264,Superfamily_domains:SSF48056		L		T		1026/2851				C9JZ52_HUMAN,B4DNE6_HUMAN			YES	TYRP1,synonymous_variant,p.=,ENST00000388918,NM_000550.2;TYRP1,intron_variant,,ENST00000381137,;TYRP1,intron_variant,,ENST00000381136,;TYRP1,downstream_gene_variant,,ENST00000473763,;RP11-3L8.3,downstream_gene_variant,,ENST00000417638,;TYRP1,non_coding_transcript_exon_variant,,ENST00000381142,;TYRP1,upstream_gene_variant,,ENST00000470909,;TYRP1,downstream_gene_variant,,ENST00000459790,;							LOW	897/1614		TYRP1_HUMAN			Transcript			.	ENSP00000373570		CCDS34990.1			1	
ZNF263	0	LGGM	GRCh37	16	3339992	3339992	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	22	3	.	.	ENST00000219069.5:c.1486G>T	p.Gly496Trp	p.G496W	ENST00000219069	NM_005741.4	496	Ggg/Tgg	0	1	1	UPI000013C33A	0	getma.org/pdb.php?prot=ZN263_HUMAN&from=476&to=501&var=G496W	ENST00000219069		ENSG00000006194	13056		25	3.815		HGNC	p.G496W		ZNF263		SNV							ENST00000219069	protein_coding	getma.org/?cm=var&var=hg19,16,3339992,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF50,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	high	2362/3830		getma.org/?cm=msa&ty=f&p=ZN263_HUMAN&rb=456&re=521&var=G496W	deleterious(0)	B4DI05_HUMAN			YES	ZNF263,missense_variant,p.Gly496Trp,ENST00000219069,NM_005741.4;ZNF263,missense_variant,p.Gly144Trp,ENST00000538765,;ZNF263,upstream_gene_variant,,ENST00000575332,;ZNF263,downstream_gene_variant,,ENST00000573578,;ZNF263,downstream_gene_variant,,ENST00000574253,;ZNF263,downstream_gene_variant,,ENST00000575823,;ZNF263,downstream_gene_variant,,ENST00000572748,;ZNF263,upstream_gene_variant,,ENST00000574674,;							MODERATE	1486/2052	G496W	ZN263_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000219069		CCDS10499.1			1	
PEAR1	0	LGGM	GRCh37	1	156874604	156874604	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	26	3	.	.	ENST00000338302.3:c.166G>T	p.Glu56Ter	p.E56*	ENST00000338302		56	Gag/Tag	0	1		UPI000045889A	0	NA	ENST00000292357		ENSG00000187800	33631		29	0		HGNC	p.E56X		PEAR1		SNV							ENST00000338302	protein_coding	getma.org/?cm=var&var=hg19,1,156874604,G,T&fts=all		PROSITE_profiles:PS51041,hmmpanther:PTHR24052,hmmpanther:PTHR24052:SF9		E/*		T	NA	282/4866		NA		A6PVP2_HUMAN				PEAR1,stop_gained,p.Glu56Ter,ENST00000338302,;PEAR1,stop_gained,p.Glu56Ter,ENST00000292357,NM_001080471.1;PEAR1,stop_gained,p.Glu56Ter,ENST00000455314,;PEAR1,stop_gained,p.Glu56Ter,ENST00000444016,;PEAR1,upstream_gene_variant,,ENST00000469390,;							HIGH	166/3114	E56*	PEAR1_HUMAN			Transcript			.	ENSP00000292357		CCDS30892.1			1	
LRCH1	0	LGGM	GRCh37	13	47224434	47224434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	28	3	.	.	ENST00000389797.3:c.406C>A	p.Pro136Thr	p.P136T	ENST00000389797	NM_001164211.1	136	Cct/Act	0	1		UPI00001FCD62	0	NA	ENST00000389798		ENSG00000136141	20309		31	1.745		HGNC	p.P136T		LRCH1		SNV							ENST00000311191	protein_coding	getma.org/?cm=var&var=hg19,13,47224434,C,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF434,SMART_domains:SM00369,Superfamily_domains:SSF52058		P/T		A	low	603/4131		getma.org/?cm=msa&ty=f&p=LRCH1_HUMAN&rb=103&re=155&var=P136T	deleterious(0)	C9JWE0_HUMAN,C9J5B8_HUMAN				LRCH1,missense_variant,p.Pro136Thr,ENST00000311191,NM_001164213.1;LRCH1,missense_variant,p.Pro136Thr,ENST00000389798,NM_015116.2;LRCH1,missense_variant,p.Pro136Thr,ENST00000389797,NM_001164211.1;LRCH1,non_coding_transcript_exon_variant,,ENST00000443945,;							MODERATE	406/2187	P136T	LRCH1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374448		CCDS31972.1			1	
UPF1	0	LGGM	GRCh37	19	18958573	18958573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	40	3	.	.	ENST00000262803.5:c.392C>A	p.Pro131His	p.P131H	ENST00000262803	NM_002911.3	131	cCt/cAt	0	1		UPI00001344ED	0	getma.org/pdb.php?prot=RENT1_HUMAN&from=121&to=272&var=P131H	ENST00000599848		ENSG00000005007	9962		43	3.82		HGNC	p.P131H		UPF1		SNV							ENST00000262803	protein_coding	getma.org/?cm=var&var=hg19,19,18958573,C,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF340,Pfam_domain:PF09416		P/H		A	high	601/5311		getma.org/?cm=msa&ty=f&p=RENT1_HUMAN&rb=121&re=272&var=P131H	deleterious(0)	B3KY55_HUMAN				UPF1,missense_variant,p.Pro131His,ENST00000262803,NM_002911.3;UPF1,missense_variant,p.Pro131His,ENST00000599848,;UPF1,non_coding_transcript_exon_variant,,ENST00000601981,;UPF1,upstream_gene_variant,,ENST00000600310,;UPF1,upstream_gene_variant,,ENST00000598471,;UPF1,upstream_gene_variant,,ENST00000600868,;UPF1,upstream_gene_variant,,ENST00000594504,;UPF1,upstream_gene_variant,,ENST00000598209,;UPF1,upstream_gene_variant,,ENST00000600012,;							MODERATE	392/3390	P131H	RENT1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000470142					1	
CASKIN2	0	LGGM	GRCh37	17	73503735	73503735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	16	3	.	.	ENST00000321617.3:c.174G>T	p.Leu58Phe	p.L58F	ENST00000321617	NM_020753.4	58	ttG/ttT	0	1	1	UPI0000140BCB	0	getma.org/pdb.php?prot=CSKI2_HUMAN&from=7&to=112&var=L58F	ENST00000321617		ENSG00000177303	18200		19	0.29		HGNC	p.L58F		CASKIN2		SNV							ENST00000581870	protein_coding	getma.org/?cm=var&var=hg19,17,73503735,C,A&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24177:SF3,hmmpanther:PTHR24177,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		L/F		A	neutral	761/5015		getma.org/?cm=msa&ty=f&p=CSKI2_HUMAN&rb=7&re=112&var=L58F	deleterious(0)	J3QKS3_HUMAN			YES	CASKIN2,missense_variant,p.Leu58Phe,ENST00000321617,NM_020753.4;CASKIN2,missense_variant,p.Leu58Phe,ENST00000581870,;CASKIN2,5_prime_UTR_variant,,ENST00000433559,NM_001142643.2;CASKIN2,non_coding_transcript_exon_variant,,ENST00000583258,;CASKIN2,upstream_gene_variant,,ENST00000580021,;CASKIN2,upstream_gene_variant,,ENST00000583246,;							MODERATE	174/3609	L58F	CSKI2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000325355		CCDS11723.1			1	
SH3PXD2B	0	LGGM	GRCh37	5	171766438	171766438	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	37	3	.	.	ENST00000311601.5:c.1671G>T	p.Pro557=	p.P557=	ENST00000311601	NM_001017995.2	557	ccG/ccT	0	1	1	UPI000020C12E	0		ENST00000311601		ENSG00000174705	29242		40			HGNC	p.P557P		SH3PXD2B		SNV			1				ENST00000311601	protein_coding			hmmpanther:PTHR15706:SF8,hmmpanther:PTHR15706		P		A		1842/7777							YES	SH3PXD2B,synonymous_variant,p.=,ENST00000311601,NM_001017995.2;SH3PXD2B,intron_variant,,ENST00000519643,;SH3PXD2B,intron_variant,,ENST00000518522,;							LOW	1671/2736		SPD2B_HUMAN			Transcript			.	ENSP00000309714		CCDS34291.1			1	
PCED1A	0	LGGM	GRCh37	20	2816301	2816301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	24	3	.	.	ENST00000360652.2:c.1172G>T	p.Gly391Val	p.G391V	ENST00000360652	NM_022760.4	391	gGc/gTc	0	1	1	UPI00001285EE	0	NA	ENST00000360652		ENSG00000132635	16212		27	1.1		HGNC	p.G391V		PCED1A		SNV							ENST00000360652	protein_coding	getma.org/?cm=var&var=hg19,20,2816301,C,A&fts=all		hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF3,Low_complexity_(Seg):seg		G/V		A	low	1675/2016		getma.org/?cm=msa&ty=f&p=F113A_HUMAN&rb=291&re=453&var=G391V	tolerated(0.5)				YES	PCED1A,missense_variant,p.Gly391Val,ENST00000360652,NM_022760.4;PCED1A,missense_variant,p.Gly340Val,ENST00000356872,NM_001271168.1;PCED1A,missense_variant,p.Gly64Val,ENST00000474714,;PCED1A,downstream_gene_variant,,ENST00000439542,;PCED1A,downstream_gene_variant,,ENST00000448755,;PCED1A,non_coding_transcript_exon_variant,,ENST00000487501,;							MODERATE	1172/1365	G391V	PED1A_HUMAN			Transcript		benign(0.018)	.	ENSP00000353868		CCDS13035.1			1	
PROCA1	0	LGGM	GRCh37	17	27038615	27038615	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	37	3	.	.	ENST00000301039.2:c.64C>A	p.Arg22Ser	p.R22S	ENST00000301039	NM_152465.1	22	Cgc/Agc	0	1	1	UPI000006D0EE	0	NA	ENST00000301039		ENSG00000167525	28600		40	-0.345		HGNC	p.R22S		PROCA1		SNV							ENST00000581289	protein_coding	getma.org/?cm=var&var=hg19,17,27038615,G,T&fts=all				R/S		T	neutral	258/1566		getma.org/?cm=msa&ty=f&p=PRCA1_HUMAN&rb=1&re=45&var=R22S	tolerated(0.92)	K7ESJ9_HUMAN			YES	PROCA1,missense_variant,p.Arg22Ser,ENST00000301039,NM_152465.1;PROCA1,missense_variant,p.Arg22Ser,ENST00000581289,;RAB34,downstream_gene_variant,,ENST00000395245,NM_031934.5,NM_001256281.1;RAB34,downstream_gene_variant,,ENST00000395242,;RAB34,downstream_gene_variant,,ENST00000395243,NM_001144942.1;RAB34,downstream_gene_variant,,ENST00000301043,NM_001256277.1;PROCA1,upstream_gene_variant,,ENST00000439862,;RAB34,downstream_gene_variant,,ENST00000447716,NM_001144943.1,NM_001142624.2;RAB34,downstream_gene_variant,,ENST00000415040,NM_001256276.1;RAB34,downstream_gene_variant,,ENST00000450529,;RAB34,downstream_gene_variant,,ENST00000453384,NM_001142625.2;RAB34,downstream_gene_variant,,ENST00000353676,;RAB34,downstream_gene_variant,,ENST00000430132,NM_001256278.1;RAB34,downstream_gene_variant,,ENST00000436730,;PROCA1,upstream_gene_variant,,ENST00000415329,;RAB34,downstream_gene_variant,,ENST00000412625,;RAB34,downstream_gene_variant,,ENST00000419712,;RAB34,downstream_gene_variant,,ENST00000580843,;RAB34,downstream_gene_variant,,ENST00000583538,;PROCA1,upstream_gene_variant,,ENST00000579650,;PROCA1,upstream_gene_variant,,ENST00000422880,;PROCA1,upstream_gene_variant,,ENST00000578097,;PROCA1,missense_variant,p.Arg22Ser,ENST00000473751,;PROCA1,upstream_gene_variant,,ENST00000495203,;RAB34,downstream_gene_variant,,ENST00000483554,;RAB34,downstream_gene_variant,,ENST00000422279,;RAB34,downstream_gene_variant,,ENST00000474704,;RAB34,downstream_gene_variant,,ENST00000484161,;RAB34,downstream_gene_variant,,ENST00000481501,;RAB34,downstream_gene_variant,,ENST00000496866,;							MODERATE	64/1011	R22S	PRCA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000301039		CCDS11239.1			1	
ABCC3	0	LGGM	GRCh37	17	48753384	48753384	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	20	3	.	.	ENST00000285238.8:c.3000G>T	p.Met1000Ile	p.M1000I	ENST00000285238	NM_003786.3	1000	atG/atT	0	1	1	UPI000004B145	0	NA	ENST00000285238		ENSG00000108846	54		23	0.46		HGNC	p.M1000I		ABCC3		SNV							ENST00000505699	protein_coding	getma.org/?cm=var&var=hg19,17,48753384,G,T&fts=all		PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,Pfam_domain:PF00664,TIGRFAM_domain:TIGR00957,Gene3D:2hydA01,Superfamily_domains:SSF90123		M/I		T	neutral	3080/5716		getma.org/?cm=msa&ty=f&p=MRP3_HUMAN&rb=965&re=1240&var=M1000I	tolerated(0.26)	Q96QA9_HUMAN,Q2M3C9_HUMAN			YES	ABCC3,missense_variant,p.Met1000Ile,ENST00000285238,NM_003786.3;ABCC3,missense_variant,p.Met149Ile,ENST00000513745,;ABCC3,non_coding_transcript_exon_variant,,ENST00000510891,;ABCC3,downstream_gene_variant,,ENST00000503304,;ABCC3,downstream_gene_variant,,ENST00000506464,;ABCC3,missense_variant,p.Met1000Ile,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000502426,;ABCC3,3_prime_UTR_variant,,ENST00000510633,;ABCC3,upstream_gene_variant,,ENST00000503337,;							MODERATE	3000/4584	M1000I	MRP3_HUMAN			Transcript		benign(0.004)	.	ENSP00000285238		CCDS32681.1			1	
RAI1	0	LGGM	GRCh37	17	17696359	17696359	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	18	3	.	.	ENST00000353383.1:c.97C>A	p.Pro33Thr	p.P33T	ENST00000353383	NM_030665.3	33	Ccg/Acg	0	1	1	UPI0000200AAF	0	NA	ENST00000353383		ENSG00000108557	9834		21	1.39		HGNC	p.P33T		RAI1		SNV			1				ENST00000353383	protein_coding	getma.org/?cm=var&var=hg19,17,17696359,C,A&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6		P/T		A	low	566/7662		getma.org/?cm=msa&ty=f&p=RAI1_HUMAN&rb=1&re=1189&var=P33T	tolerated(0.92)	J3QLL5_HUMAN,A8MXE8_HUMAN			YES	RAI1,missense_variant,p.Pro33Thr,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Pro33Thr,ENST00000261641,;RAI1,missense_variant,p.Pro33Thr,ENST00000395774,;RAI1,missense_variant,p.Pro33Thr,ENST00000471135,;							MODERATE	97/5721	P33T	RAI1_HUMAN			Transcript		benign(0.357)	.	ENSP00000323074		CCDS11188.1			1	
OCLN	0	LGGM	GRCh37	5	68840837	68840837	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	24	3	.	.	ENST00000355237.2:c.1144C>A	p.Pro382Thr	p.P382T	ENST00000355237	NM_002538.3	382	Cct/Act	0	1	1	UPI00000341F0	0	NA	ENST00000355237		ENSG00000197822	8104		27	2.34		HGNC	p.P382T		OCLN		SNV			1				ENST00000396442	protein_coding	getma.org/?cm=var&var=hg19,5,68840837,C,A&fts=all		hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,PIRSF_domain:PIRSF005993		P/T		A	medium	1580/6438		getma.org/?cm=msa&ty=f&p=OCLN_HUMAN&rb=264&re=419&var=P382T	deleterious(0.04)				YES	OCLN,missense_variant,p.Pro382Thr,ENST00000355237,NM_002538.3;OCLN,missense_variant,p.Pro328Thr,ENST00000380766,;OCLN,missense_variant,p.Pro382Thr,ENST00000396442,NM_001205254.1;OCLN,missense_variant,p.Pro131Thr,ENST00000538151,NM_001205255.1;OCLN,missense_variant,p.Pro60Thr,ENST00000542132,;OCLN,non_coding_transcript_exon_variant,,ENST00000514370,;OCLN,non_coding_transcript_exon_variant,,ENST00000510666,;GUSBP3,intron_variant,,ENST00000380759,;							MODERATE	1144/1569	P382T	OCLN_HUMAN			Transcript		benign(0.003)	.	ENSP00000347379		CCDS4006.1			1	
HAPLN3	0	LGGM	GRCh37	15	89424754	89424754	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	29	3	.	.	ENST00000359595.3:c.327C>A	p.His109Gln	p.H109Q	ENST00000359595	NM_178232.2	109	caC/caA	0	1	1	UPI0000048EB3	0	getma.org/pdb.php?prot=HPLN3_HUMAN&from=48&to=162&var=H109Q	ENST00000359595		ENSG00000140511	21446		32	0.93		HGNC	p.H109Q		HAPLN3		SNV							ENST00000359595	protein_coding	getma.org/?cm=var&var=hg19,15,89424754,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF40,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		H/Q		T	low	542/1980		getma.org/?cm=msa&ty=f&p=HPLN3_HUMAN&rb=48&re=162&var=H109Q	tolerated(0.26)				YES	HAPLN3,missense_variant,p.His109Gln,ENST00000359595,NM_178232.2;HAPLN3,missense_variant,p.His171Gln,ENST00000562889,;HAPLN3,missense_variant,p.His109Gln,ENST00000562281,;HAPLN3,missense_variant,p.His109Gln,ENST00000558770,;HAPLN3,non_coding_transcript_exon_variant,,ENST00000563808,;							MODERATE	327/1083	H109Q	HPLN3_HUMAN			Transcript		benign(0.081)	.	ENSP00000352606		CCDS10346.1			1	
FAM231D	0	LGGM	GRCh37	1	149676523	149676523	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	8	3	.	.	ENST00000369173.2:c.454G>A	p.Val152Ile	p.V152I	ENST00000369173		152	Gta/Ata	0	1	1	UPI000022AD4D	0	NA	ENST00000369173		ENSG00000203815	49509		11	0		HGNC	p.V152I	rs781826292	FAM231D	0.000138	SNV							ENST00000369173	protein_coding	getma.org/?cm=var&var=hg19,1,149676523,G,A&fts=all				V/I		A	neutral	546/632		getma.org/?cm=msa&ty=f&p=U627C_HUMAN&rb=6&re=167&var=V152I		I3L0A6_HUMAN			YES	FAM231D,missense_variant,p.Val152Ile,ENST00000369173,;RP11-353N4.4,intron_variant,,ENST00000443602,;RP11-353N4.5,intron_variant,,ENST00000608683,;RNU1-68P,upstream_gene_variant,,ENST00000517116,;							MODERATE	454/510	V152I		0.00109		Transcript		possibly_damaging(0.631)	common_variant	ENSP00000358171	0.00013				1	
GORASP1	0	LGGM	GRCh37	3	39144267	39144267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	44	3	.	.	ENST00000319283.3:c.250G>T	p.Val84Leu	p.V84L	ENST00000319283	NM_031899.3	84	Gtg/Ttg	0	1	1	UPI000007074D	0	getma.org/pdb.php?prot=GORS1_HUMAN&from=69&to=205&var=V84L	ENST00000319283		ENSG00000114745	16769		47	1.25		HGNC	p.V82L		GORASP1		SNV							ENST00000441081	protein_coding	getma.org/?cm=var&var=hg19,3,39144267,C,A&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF04495,hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF2		V/L		A	low	1072/3722		getma.org/?cm=msa&ty=f&p=GORS1_HUMAN&rb=69&re=205&var=V84L	tolerated(0.19)	F8WD30_HUMAN,C9J5S6_HUMAN			YES	GORASP1,missense_variant,p.Val84Leu,ENST00000319283,NM_031899.3;GORASP1,missense_variant,p.Val82Leu,ENST00000441081,;GORASP1,missense_variant,p.Val124Leu,ENST00000437458,;GORASP1,missense_variant,p.Val84Leu,ENST00000411813,;GORASP1,missense_variant,p.Val11Leu,ENST00000416741,;GORASP1,intron_variant,,ENST00000422110,NM_001278790.1;GORASP1,intron_variant,,ENST00000479927,NM_001278789.1;GORASP1,intron_variant,,ENST00000427459,;TTC21A,upstream_gene_variant,,ENST00000301819,NM_145755.2;TTC21A,upstream_gene_variant,,ENST00000431162,;GORASP1,upstream_gene_variant,,ENST00000476334,;GORASP1,downstream_gene_variant,,ENST00000493938,;GORASP1,upstream_gene_variant,,ENST00000479124,;GORASP1,upstream_gene_variant,,ENST00000489587,;GORASP1,downstream_gene_variant,,ENST00000493751,;GORASP1,downstream_gene_variant,,ENST00000486133,;GORASP1,missense_variant,p.Val84Leu,ENST00000452389,;GORASP1,missense_variant,p.Val84Leu,ENST00000453680,;GORASP1,missense_variant,p.Val11Leu,ENST00000431601,;GORASP1,missense_variant,p.Val49Leu,ENST00000419156,;GORASP1,3_prime_UTR_variant,,ENST00000413243,;GORASP1,non_coding_transcript_exon_variant,,ENST00000441302,;GORASP1,non_coding_transcript_exon_variant,,ENST00000470910,;GORASP1,non_coding_transcript_exon_variant,,ENST00000493851,;GORASP1,non_coding_transcript_exon_variant,,ENST00000492064,;GORASP1,intron_variant,,ENST00000473827,;GORASP1,intron_variant,,ENST00000466443,;GORASP1,intron_variant,,ENST00000488479,;TTC21A,upstream_gene_variant,,ENST00000430597,;TTC21A,upstream_gene_variant,,ENST00000479954,;TTC21A,upstream_gene_variant,,ENST00000459702,;TTC21A,upstream_gene_variant,,ENST00000493337,;TTC21A,upstream_gene_variant,,ENST00000490036,;TTC21A,upstream_gene_variant,,ENST00000431559,;GORASP1,downstream_gene_variant,,ENST00000469471,;							MODERATE	250/1323	V84L	GORS1_HUMAN			Transcript		benign(0.196)	.	ENSP00000313869		CCDS2681.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266168	41266168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	31	3	.	.	ENST00000349496.5:c.165G>T	p.Glu55Asp	p.E55D	ENST00000349496	NM_001904.3	55	gaG/gaT	0	1	1	UPI000012862F	0	NA	ENST00000349496		ENSG00000168036	2514		34	-0.345		HGNC	p.E55D		CTNNB1		SNV			1				ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266168,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		E/D		T	neutral	445/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=E55D	tolerated(1)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Glu55Asp,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Glu55Asp,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Glu55Asp,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Glu48Asp,ENST00000453024,;CTNNB1,missense_variant,p.Glu55Asp,ENST00000405570,;CTNNB1,missense_variant,p.Glu55Asp,ENST00000450969,;CTNNB1,missense_variant,p.Glu55Asp,ENST00000431914,;CTNNB1,missense_variant,p.Glu55Asp,ENST00000441708,;CTNNB1,missense_variant,p.Glu48Asp,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;							MODERATE	165/2346	E55D	CTNB1_HUMAN			Transcript		benign(0.003)	.	ENSP00000344456		CCDS2694.1			1	
BAI2	0	LGGM	GRCh37	1	32198153	32198153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	14	3	.	.	ENST00000373658.3:c.3685C>A	p.Pro1229Thr	p.P1229T	ENST00000373658	NM_001703.2	1229	Cct/Act	0	1	1	UPI0000E2A42F	0	NA	ENST00000373658		ENSG00000121753	944		17	1.06		HGNC	p.P1229T		BAI2		SNV							ENST00000373655	protein_coding	getma.org/?cm=var&var=hg19,1,32198153,G,T&fts=all		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF41		P/T		T	low	4027/5403		getma.org/?cm=msa&ty=f&p=BAI2_HUMAN&rb=1199&re=1398&var=P1229T	tolerated(0.33)				YES	BAI2,missense_variant,p.Pro1229Thr,ENST00000373658,NM_001703.2;BAI2,missense_variant,p.Pro1229Thr,ENST00000373655,;BAI2,missense_variant,p.Pro1196Thr,ENST00000257070,;BAI2,missense_variant,p.Pro1129Thr,ENST00000398542,;BAI2,missense_variant,p.Pro1196Thr,ENST00000527361,;BAI2,missense_variant,p.Pro1144Thr,ENST00000398556,;BAI2,missense_variant,p.Pro1162Thr,ENST00000398547,;BAI2,missense_variant,p.Pro1217Thr,ENST00000398538,;BAI2,missense_variant,p.Pro838Thr,ENST00000440175,;BAI2,non_coding_transcript_exon_variant,,ENST00000465256,;BAI2,non_coding_transcript_exon_variant,,ENST00000484002,;BAI2,upstream_gene_variant,,ENST00000465239,;BAI2,non_coding_transcript_exon_variant,,ENST00000525655,;BAI2,non_coding_transcript_exon_variant,,ENST00000530999,;							MODERATE	3685/4758	P1229T	BAI2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362762		CCDS346.2			1	
UPK3A	0	LGGM	GRCh37	22	45681865	45681865	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	26	3	.	.	ENST00000216211.4:c.96C>A	p.Thr32=	p.T32=	ENST00000216211	NM_006953.3	32	acC/acA	0	1	1	UPI0000161B8E	0		ENST00000216211		ENSG00000100373	12580		29			HGNC	p.T32T		UPK3A		SNV			1				ENST00000216211	protein_coding			hmmpanther:PTHR15446,hmmpanther:PTHR15446:SF15		T		A		128/1051							YES	UPK3A,synonymous_variant,p.=,ENST00000216211,NM_006953.3;UPK3A,synonymous_variant,p.=,ENST00000396082,NM_001167574.1;							LOW	96/864		UPK3A_HUMAN			Transcript			.	ENSP00000216211		CCDS14064.1			1	
DZIP3	0	LGGM	GRCh37	3	108407512	108407512	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	40	3	.	.	ENST00000361582.3:c.3343C>A	p.Gln1115Lys	p.Q1115K	ENST00000361582	NM_014648.3	1115	Cag/Aag	0	1	1	UPI000006E7D4	0	NA	ENST00000361582		ENSG00000198919	30938		43	0.805		HGNC	p.Q1115K		DZIP3		SNV							ENST00000463306	protein_coding	getma.org/?cm=var&var=hg19,3,108407512,C,A&fts=all		hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15		Q/K		A	low	3573/5350		getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=1092&re=1145&var=Q1115K	tolerated(0.08)	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,missense_variant,p.Gln1115Lys,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Gln1115Lys,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							MODERATE	3343/3627	Q1115K	DZIP3_HUMAN			Transcript		benign(0.044)	.	ENSP00000355028		CCDS2952.1			1	
HLA-DRB5	0	LGGM	GRCh37	6	32489687	32489687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	28	3	.	.	ENST00000374975.3:c.365G>T	p.Arg122Leu	p.R122L	ENST00000374975	NM_002125.3	122	cGg/cTg	0	1	1	UPI000008AF56	0	getma.org/pdb.php?prot=DRB5_HUMAN&from=117&to=131&var=R122L	ENST00000374975		ENSG00000198502	4953		31	3.335		HGNC	p.R122L		HLA-DRB5		SNV							ENST00000374975	protein_coding	getma.org/?cm=var&var=hg19,6,32489687,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR19944,hmmpanther:PTHR19944:SF57,Superfamily_domains:SSF54452		R/L		A	medium	428/1260		getma.org/?cm=msa&ty=f&p=DRB5_HUMAN&rb=87&re=161&var=R122L	tolerated(0.08)	Q95385_HUMAN,Q5TJ21_HUMAN,Q30141_HUMAN,Q30138_HUMAN,Q30009_HUMAN,Q2YHL2_HUMAN,Q06663_HUMAN,Q06654_HUMAN,A1A424_HUMAN			YES	HLA-DRB5,missense_variant,p.Arg122Leu,ENST00000374975,NM_002125.3;							MODERATE	365/801	R122L	DRB5_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000364114		CCDS4751.1			1	
ZSCAN29	0	LGGM	GRCh37	15	43658438	43658438	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	31	3	.	.	ENST00000396976.2:c.1092G>T	p.Gln364His	p.Q364H	ENST00000396976	NM_152455.3	364	caG/caT	0	1	1	UPI0000DA5AF5	0	NA	ENST00000396976		ENSG00000140265	26673		34	1.32		HGNC	p.Q285H		ZSCAN29		SNV							ENST00000570181	protein_coding	getma.org/?cm=var&var=hg19,15,43658438,C,A&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209		Q/H		A	low	1227/5595		getma.org/?cm=msa&ty=f&p=ZSC29_HUMAN&rb=331&re=407&var=Q364H	deleterious(0.03)	Q96AG1_HUMAN,H3BVH1_HUMAN			YES	ZSCAN29,missense_variant,p.Gln364His,ENST00000396976,NM_152455.3;ZSCAN29,missense_variant,p.Gln363His,ENST00000562072,;ZSCAN29,missense_variant,p.Gln285His,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,;							MODERATE	1092/2559	Q364H	ZSC29_HUMAN			Transcript		benign(0.006)	.	ENSP00000380174		CCDS10095.2			1	
MYOM3	0	LGGM	GRCh37	1	24408502	24408502	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	4	3	.	.	ENST00000374434.3:c.2269C>A	p.Arg757=	p.R757=	ENST00000374434	NM_152372.3	757	Cgg/Agg	0	1	1	UPI0000203A5D	0		ENST00000374434		ENSG00000142661	26679		7			HGNC	p.R758R	rs548809586	MYOM3	0.0151	SNV							ENST00000330966	protein_coding		T:0	Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19900:SF35,hmmpanther:PTHR19900,PROSITE_profiles:PS50853		R		T		2432/5804					T:0	T:0	YES	MYOM3,synonymous_variant,p.=,ENST00000330966,;MYOM3,synonymous_variant,p.=,ENST00000374434,NM_152372.3;MYOM3,synonymous_variant,p.=,ENST00000329601,;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,non_coding_transcript_exon_variant,,ENST00000475306,;MYOM3,intron_variant,,ENST00000448831,;		T:0.0016					LOW	2269/4314		MYOM3_HUMAN		T:0	Transcript			common_variant	ENSP00000363557	0.00165	CCDS41281.1		T:0.0082	1	
SLC18B1	0	LGGM	GRCh37	6	133094136	133094136	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	39	3	.	.	ENST00000275227.4:c.1081G>T	p.Ala361Ser	p.A361S	ENST00000275227	NM_052831.2	361	Gca/Tca	0	1	1	UPI000013DA50	0	NA	ENST00000275227		ENSG00000146409	21573		42	1.915		HGNC	p.A361S		SLC18B1		SNV							ENST00000275227	protein_coding	getma.org/?cm=var&var=hg19,6,133094136,C,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24004,hmmpanther:PTHR24004:SF18,Superfamily_domains:SSF103473		A/S		A	medium	1178/2368		getma.org/?cm=msa&ty=f&p=S18B1_HUMAN&rb=201&re=400&var=A361S	deleterious(0)				YES	SLC18B1,missense_variant,p.Ala361Ser,ENST00000275227,NM_052831.2;SLC18B1,missense_variant,p.Ala235Ser,ENST00000538764,;SLC18B1,downstream_gene_variant,,ENST00000367918,;							MODERATE	1081/1371	A361S	S18B1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000275227		CCDS5163.1			1	
WDR35	0	LGGM	GRCh37	2	20182271	20182271	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	3	.	.	ENST00000345530.3:c.167C>T	p.Ala56Val	p.A56V	ENST00000345530	NM_001006657.1	56	gCa/gTa	0	1	1	UPI000034E5D3	0	NA	ENST00000345530		ENSG00000118965	29250		38	2.155		HGNC	p.A56V		WDR35		SNV			1				ENST00000414212	protein_coding	getma.org/?cm=var&var=hg19,2,20182271,G,A&fts=all		hmmpanther:PTHR16517:SF1,hmmpanther:PTHR16517,Gene3D:2.130.10.10,PIRSF_domain:PIRSF037536,Superfamily_domains:SSF82171		A/V		A	medium	283/6960		getma.org/?cm=msa&ty=f&p=WDR35_HUMAN&rb=12&re=91&var=A56V	deleterious(0)				YES	WDR35,missense_variant,p.Ala56Val,ENST00000345530,NM_001006657.1;WDR35,missense_variant,p.Ala56Val,ENST00000281405,NM_020779.3;WDR35,missense_variant,p.Ala56Val,ENST00000414212,;							MODERATE	167/3546	A56V	WDR35_HUMAN			Transcript		benign(0.397)	.	ENSP00000314444		CCDS33152.1			1	
TCEA3	0	LGGM	GRCh37	1	23720427	23720427	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	30	3	.	.	ENST00000450454.2:c.764G>T	p.Arg255Leu	p.R255L	ENST00000450454	NM_003196.1	255	cGg/cTg	0	1	1	UPI0000136AC2	0	getma.org/pdb.php?prot=TCEA3_HUMAN&from=183&to=297&var=R255L	ENST00000450454		ENSG00000204219	11615		33	1.15		HGNC	p.R255L		TCEA3		SNV							ENST00000450454	protein_coding	getma.org/?cm=var&var=hg19,1,23720427,C,A&fts=all		PROSITE_profiles:PS51321,hmmpanther:PTHR11477:SF4,hmmpanther:PTHR11477,TIGRFAM_domain:TIGR01385,Gene3D:1enwA00,Pfam_domain:PF07500,SMART_domains:SM00510,PIRSF_domain:PIRSF006704,Superfamily_domains:0037100		R/L		A	low	871/1559		getma.org/?cm=msa&ty=f&p=TCEA3_HUMAN&rb=183&re=297&var=R255L	deleterious(0.05)				YES	TCEA3,missense_variant,p.Arg255Leu,ENST00000450454,NM_003196.1;							MODERATE	764/1047	R255L	TCEA3_HUMAN			Transcript		benign(0.047)	.	ENSP00000406293		CCDS44086.1			1	
ZIC4	0	LGGM	GRCh37	3	147113965	147113965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	28	3	.	.	ENST00000525172.2:c.512G>T	p.Arg171Leu	p.R171L	ENST00000525172	NM_001168378.1	171	cGc/cTc	0	1		UPI000013F1E0	0	NA	ENST00000383075		ENSG00000174963	20393		31	2.61		HGNC	p.R159L		ZIC4		SNV			1				ENST00000425731	protein_coding	getma.org/?cm=var&var=hg19,3,147113965,C,A&fts=all		hmmpanther:PTHR19818		R/L		A	medium	875/4331		getma.org/?cm=msa&ty=f&p=ZIC4_HUMAN&rb=95&re=128&var=R121L	deleterious(0)	C9JZU7_HUMAN,C9JD04_HUMAN,C9J6T3_HUMAN,B3KPI4_HUMAN				ZIC4,missense_variant,p.Arg121Leu,ENST00000383075,NM_032153.5;ZIC4,missense_variant,p.Arg171Leu,ENST00000525172,NM_001168378.1;ZIC4,missense_variant,p.Arg159Leu,ENST00000425731,NM_001168379.1;ZIC4,missense_variant,p.Arg121Leu,ENST00000484399,;ZIC4,missense_variant,p.Arg121Leu,ENST00000473123,;ZIC4,missense_variant,p.Arg121Leu,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,;							MODERATE	362/1005	R121L	ZIC4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000372553		CCDS43160.1			1	
WDR73	0	LGGM	GRCh37	15	85188818	85188818	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	3	.	.	ENST00000434634.2:c.767G>T	p.Arg256Leu	p.R256L	ENST00000434634	NM_032856.2	256	cGg/cTg	0	1	1	UPI000004A084	0	getma.org/pdb.php?prot=WDR73_HUMAN&from=1&to=376&var=R256L	ENST00000434634		ENSG00000177082	25928		28	2.35		HGNC	p.R256L		WDR73		SNV			1				ENST00000434634	protein_coding	getma.org/?cm=var&var=hg19,15,85188818,C,A&fts=all		hmmpanther:PTHR22850:SF99,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		R/L		A	medium	828/1900		getma.org/?cm=msa&ty=f&p=WDR73_HUMAN&rb=1&re=376&var=R256L	deleterious(0)				YES	WDR73,missense_variant,p.Arg256Leu,ENST00000434634,NM_032856.2;WDR73,non_coding_transcript_exon_variant,,ENST00000398528,;SCAND2P,downstream_gene_variant,,ENST00000348993,;WDR73,downstream_gene_variant,,ENST00000560835,;WDR73,downstream_gene_variant,,ENST00000561447,;WDR73,3_prime_UTR_variant,,ENST00000558521,;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,downstream_gene_variant,,ENST00000560252,;WDR73,downstream_gene_variant,,ENST00000561329,;WDR73,downstream_gene_variant,,ENST00000559178,;WDR73,downstream_gene_variant,,ENST00000558487,;WDR73,downstream_gene_variant,,ENST00000559877,;WDR73,downstream_gene_variant,,ENST00000560182,;WDR73,downstream_gene_variant,,ENST00000558019,;WDR73,downstream_gene_variant,,ENST00000560088,;SCAND2P,downstream_gene_variant,,ENST00000541103,;							MODERATE	767/1137	R256L	WDR73_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000387982		CCDS45339.1			1	
GRIP1	0	LGGM	GRCh37	12	66826396	66826396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	36	3	.	.	ENST00000398016.3:c.1544C>A	p.Pro515Gln	p.P515Q	ENST00000398016	NM_021150.3	515	cCa/cAa	0	1		UPI00001D798A	0	getma.org/pdb.php?prot=GRIP1_HUMAN&from=559&to=572&var=P567Q	ENST00000359742		ENSG00000155974	18708		39	2.39		HGNC	p.P567Q		GRIP1		SNV			1				ENST00000286445	protein_coding	getma.org/?cm=var&var=hg19,12,66826396,G,T&fts=all		hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Superfamily_domains:SSF50156		P/Q		T	medium	1941/5216		getma.org/?cm=msa&ty=f&p=GRIP1_HUMAN&rb=529&re=602&var=P567Q	deleterious(0.03)	F5H5I0_HUMAN,F5H424_HUMAN				GRIP1,missense_variant,p.Pro567Gln,ENST00000359742,;GRIP1,missense_variant,p.Pro567Gln,ENST00000286445,;GRIP1,missense_variant,p.Pro515Gln,ENST00000398016,NM_021150.3;GRIP1,missense_variant,p.Pro515Gln,ENST00000538211,NM_001178074.1;GRIP1,missense_variant,p.Pro382Gln,ENST00000538164,;GRIP1,missense_variant,p.Pro459Gln,ENST00000540433,;GRIP1,missense_variant,p.Pro407Gln,ENST00000536215,;GRIP1,intron_variant,,ENST00000540854,;							MODERATE	1700/3387	P567Q	GRIP1_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000352780					1	
GOLGA8K	0	LGGM	GRCh37	15	32686900	32686900	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	10	3	.	.	ENST00000512626.2:c.1242G>T	p.Thr414=	p.T414=	ENST00000512626	NM_001282493.1	414	acG/acT	0	1	1	UPI0001A5E7CC	0		ENST00000512626		ENSG00000249931	38652		13			HGNC	p.T391T		GOLGA8K		SNV							ENST00000512626	protein_coding			Pfam_domain:PF15070,hmmpanther:PTHR10881		T		A		1243/1894							YES	GOLGA8K,synonymous_variant,p.=,ENST00000512626,NM_001282493.1;AC139426.1,upstream_gene_variant,,ENST00000408517,;RN7SL185P,upstream_gene_variant,,ENST00000492212,;RP13-395E19.3,downstream_gene_variant,,ENST00000562108,;							LOW	1242/1893		GOG8K_HUMAN			Transcript			.	ENSP00000426691		CCDS61577.1			1	
ZNF479	0	LGGM	GRCh37	7	57188201	57188201	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	41	3	.	.	ENST00000331162.4:c.921C>A	p.Ser307Arg	p.S307R	ENST00000331162	NM_033273.1	307	agC/agA	0	1	1	UPI000006E615	0	getma.org/pdb.php?prot=ZN479_HUMAN&from=283&to=308&var=S307R	ENST00000331162		ENSG00000185177	23258		44	0.55		HGNC	p.S307R		ZNF479		SNV							ENST00000331162	protein_coding	getma.org/?cm=var&var=hg19,7,57188201,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/R		T	neutral	1192/2072		getma.org/?cm=msa&ty=f&p=ZN479_HUMAN&rb=263&re=328&var=S307R	tolerated(0.18)	I0EZ75_HUMAN			YES	ZNF479,missense_variant,p.Ser307Arg,ENST00000331162,NM_033273.1;							MODERATE	921/1575	S307R	ZN479_HUMAN			Transcript		benign(0.161)	.	ENSP00000333776		CCDS43590.1			1	
WIPI2	0	LGGM	GRCh37	7	5267749	5267749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	12	3	.	.	ENST00000288828.4:c.1028C>A	p.Pro343Gln	p.P343Q	ENST00000288828	NM_001278299.1	343	cCg/cAg	0	1	1	UPI0000073E34	0	NA	ENST00000288828		ENSG00000157954	32225		15	1.68		HGNC	p.P343Q		WIPI2		SNV							ENST00000288828	protein_coding	getma.org/?cm=var&var=hg19,7,5267749,C,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR11227,hmmpanther:PTHR11227:SF27,SMART_domains:SM00320,Superfamily_domains:SSF50978		P/Q		A	low	1260/4476		getma.org/?cm=msa&ty=f&p=WIPI2_HUMAN&rb=228&re=427&var=P343Q	tolerated(0.1)				YES	WIPI2,missense_variant,p.Pro343Gln,ENST00000288828,NM_001278299.1,NM_001033518.1,NM_015610.3;WIPI2,missense_variant,p.Pro325Gln,ENST00000401525,NM_016003.3;WIPI2,missense_variant,p.Pro325Gln,ENST00000382384,NM_001033519.1;WIPI2,missense_variant,p.Pro343Gln,ENST00000404704,;WIPI2,missense_variant,p.Pro284Gln,ENST00000484262,NM_001033520.1;WIPI2,downstream_gene_variant,,ENST00000488359,;WIPI2,downstream_gene_variant,,ENST00000480238,;WIPI2,non_coding_transcript_exon_variant,,ENST00000471851,;WIPI2,non_coding_transcript_exon_variant,,ENST00000466014,;WIPI2,upstream_gene_variant,,ENST00000479690,;							MODERATE	1028/1365	P343Q	WIPI2_HUMAN			Transcript		benign(0.177)	.	ENSP00000288828		CCDS5339.1			1	
EPPK1	0	LGGM	GRCh37	8	144947320	144947320	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	10	3	.	.	ENST00000525985.1:c.102G>T	p.Thr34=	p.T34=	ENST00000525985	NM_031308.2	34	acG/acT	0	1	1	UPI00006C0DF1	0		ENST00000525985		ENSG00000227184	15577		13			HGNC	p.T34T		EPPK1		SNV							ENST00000525985	protein_coding			SMART_domains:SM00250		T		A		174/7997				E9PPU0_HUMAN			YES	EPPK1,synonymous_variant,p.=,ENST00000525985,NM_031308.2;							LOW	102/7263					Transcript			.	ENSP00000436337					1	
CLEC14A	0	LGGM	GRCh37	14	38724330	38724330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	27	3	.	.	ENST00000342213.2:c.898G>T	p.Gly300Trp	p.G300W	ENST00000342213	NM_175060.2	300	Ggg/Tgg	0	1	1	UPI000000CBD4	0	NA	ENST00000342213		ENSG00000176435	19832		30	0		HGNC	p.G300W		CLEC14A		SNV							ENST00000342213	protein_coding	getma.org/?cm=var&var=hg19,14,38724330,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24838:SF258,hmmpanther:PTHR24838		G/W		A	neutral	1245/2267		getma.org/?cm=msa&ty=f&p=CLC14_HUMAN&rb=299&re=487&var=G300W	deleterious_low_confidence(0)				YES	CLEC14A,missense_variant,p.Gly300Trp,ENST00000342213,NM_175060.2;							MODERATE	898/1473	G300W	CLC14_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000353013		CCDS9667.1			1	
HMGCS2	0	LGGM	GRCh37	1	120301847	120301847	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	44	3	.	.	ENST00000369406.3:c.744G>T	p.Ser248=	p.S248=	ENST00000369406	NM_005518.3	248	tcG/tcT	0	1	1	UPI000000DA7A	0		ENST00000369406		ENSG00000134240	5008		47			HGNC	p.S248S		HMGCS2		SNV			1				ENST00000369406	protein_coding			Gene3D:3.40.47.10,Pfam_domain:PF08540,hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF16,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01833		S		A		794/2428							YES	HMGCS2,synonymous_variant,p.=,ENST00000369406,NM_005518.3;HMGCS2,synonymous_variant,p.=,ENST00000544913,NM_001166107.1;HMGCS2,non_coding_transcript_exon_variant,,ENST00000472375,;HMGCS2,intron_variant,,ENST00000476640,;							LOW	744/1527		HMCS2_HUMAN			Transcript			.	ENSP00000358414		CCDS905.1			1	
SRSF1	0	LGGM	GRCh37	17	56083782	56083782	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	31	3	.	.	ENST00000258962.4:c.301G>T	p.Gly101Trp	p.G101W	ENST00000258962	NM_006924.4	101	Ggg/Tgg	0	1	1	UPI0000001220	0	NA	ENST00000258962		ENSG00000136450	10780		34	2.005		HGNC	p.G101W		SRSF1		SNV							ENST00000584773	protein_coding	getma.org/?cm=var&var=hg19,17,56083782,C,A&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF87,Low_complexity_(Seg):seg,Superfamily_domains:SSF54928		G/W		A	medium	510/1513		getma.org/?cm=msa&ty=f&p=SRSF1_HUMAN&rb=86&re=122&var=G101W	tolerated(0.05)	J3QQV5_HUMAN			YES	SRSF1,missense_variant,p.Gly101Trp,ENST00000582730,NM_001078166.1;SRSF1,missense_variant,p.Gly101Trp,ENST00000258962,NM_006924.4;SRSF1,missense_variant,p.Gly101Trp,ENST00000584773,;SRSF1,intron_variant,,ENST00000585096,;RP11-159D12.5,upstream_gene_variant,,ENST00000578794,;SRSF1,upstream_gene_variant,,ENST00000581497,;SRSF1,missense_variant,p.Gly101Trp,ENST00000581979,;SRSF1,3_prime_UTR_variant,,ENST00000583741,;SRSF1,non_coding_transcript_exon_variant,,ENST00000578430,;SRSF1,upstream_gene_variant,,ENST00000584668,;							MODERATE	301/747	G101W	SRSF1_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000258962		CCDS11600.1			1	
BACH2	0	LGGM	GRCh37	6	90660535	90660535	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	3	.	.	ENST00000257749.4:c.1290C>A	p.Ser430Arg	p.S430R	ENST00000257749	NM_021813.2	430	agC/agA	0	1	1	UPI000004F8AD	0	NA	ENST00000257749		ENSG00000112182	14078		28	0.895		HGNC	p.S430R		BACH2		SNV							ENST00000343122	protein_coding	getma.org/?cm=var&var=hg19,6,90660535,G,T&fts=all				S/R		T	low	1998/9113		getma.org/?cm=msa&ty=f&p=BACH2_HUMAN&rb=149&re=596&var=S430R	deleterious(0)	S0BE05_HUMAN,S0BDZ6_HUMAN,S0BDY5_HUMAN,Q7Z6Q0_HUMAN			YES	BACH2,missense_variant,p.Ser430Arg,ENST00000257749,NM_021813.2;BACH2,missense_variant,p.Ser430Arg,ENST00000537989,NM_001170794.1;BACH2,missense_variant,p.Ser430Arg,ENST00000343122,;RP3-512E2.2,intron_variant,,ENST00000445838,;RP3-512E2.2,intron_variant,,ENST00000413986,;							MODERATE	1290/2526	S430R	BACH2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000257749		CCDS5026.1			1	
ADCY1	0	LGGM	GRCh37	7	45688298	45688298	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	3	.	.	ENST00000297323.7:c.1050C>A	p.Leu350=	p.L350=	ENST00000297323	NM_021116.2	350	ctC/ctA	0	1	1	UPI0000199C4A	0		ENST00000297323		ENSG00000164742	232		38			HGNC	p.L350L		ADCY1		SNV			1				ENST00000297323	protein_coding			Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF20,SMART_domains:SM00044,Superfamily_domains:SSF55073		L		A		1072/12503				Q8NFM5_HUMAN,D3DVL8_HUMAN			YES	ADCY1,synonymous_variant,p.=,ENST00000297323,NM_021116.2;ADCY1,synonymous_variant,p.=,ENST00000432715,NM_001281768.1;							LOW	1050/3360		ADCY1_HUMAN			Transcript			.	ENSP00000297323		CCDS34631.1			1	
UBR2	0	LGGM	GRCh37	6	42600293	42600293	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	27	3	.	.	ENST00000372899.1:c.1285C>A	p.Arg429=	p.R429=	ENST00000372899	NM_015255.2	429	Cga/Aga	0	1	1	UPI0000074466	0		ENST00000372899		ENSG00000024048	21289		30			HGNC	p.R429R		UBR2		SNV							ENST00000372899	protein_coding			hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28		R		A		1543/7857				B3KXG6_HUMAN			YES	UBR2,synonymous_variant,p.=,ENST00000372899,NM_015255.2;UBR2,synonymous_variant,p.=,ENST00000372901,;UBR2,5_prime_UTR_variant,,ENST00000372883,;							LOW	1285/5268		UBR2_HUMAN			Transcript			.	ENSP00000361990		CCDS4870.1			1	
AC002472.13	0	LGGM	GRCh37	22	21414720	21414720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	9	3	.	.	ENST00000342608.4:c.1079C>A	p.Pro360Gln	p.P360Q	ENST00000342608		360	cCa/cAa	0	1		UPI0001610FC2	0		ENST00000442047		ENSG00000187905			12			Clone_based_vega_gene	p.P360Q		AC002472.13		SNV							ENST00000342608	protein_coding			hmmpanther:PTHR24114:SF16,hmmpanther:PTHR24114		P/Q		A		1082/1098			deleterious(0)	C9JK49_HUMAN				AC002472.13,missense_variant,p.Pro360Gln,ENST00000342608,;AC002472.13,missense_variant,p.Pro361Gln,ENST00000442047,;AC002472.13,3_prime_UTR_variant,,ENST00000543388,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000497328,;AC002472.13,non_coding_transcript_exon_variant,,ENST00000473769,;AC002472.13,downstream_gene_variant,,ENST00000469766,;							MODERATE	1082/1098					Transcript		probably_damaging(0.998)	.	ENSP00000394078					1	
PTPN3	0	LGGM	GRCh37	9	112195442	112195442	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	29	4	.	.	ENST00000374541.2:c.676-1G>A		p.X226_splice	ENST00000374541	NM_001145368.1			0	1	1	UPI000013D2D2	0		ENST00000374541		ENSG00000070159	9655		33			HGNC	-		PTPN3		SNV			1				ENST00000446349	protein_coding							T		-/6703				B7Z8K9_HUMAN			YES	PTPN3,splice_acceptor_variant,,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,splice_acceptor_variant,,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,splice_acceptor_variant,,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,splice_acceptor_variant,,ENST00000262539,;							HIGH	676/2742		PTN3_HUMAN			Transcript			.	ENSP00000363667		CCDS6776.1			1	
ANKRD11	0	LGGM	GRCh37	16	89352560	89352560	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	76	4	.	.	ENST00000301030.4:c.779C>A	p.Pro260Gln	p.P260Q	ENST00000301030	NM_001256183.1	260	cCg/cAg	0	1	1	UPI00004569E1	0	getma.org/pdb.php?prot=ANR11_HUMAN&from=208&to=293&var=P260Q	ENST00000301030		ENSG00000167522	21316		80	2.385		HGNC	p.P260Q		ANKRD11		SNV			1				ENST00000378330	protein_coding	getma.org/?cm=var&var=hg19,16,89352560,G,T&fts=all		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24145,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		P/Q		T	medium	1240/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=208&re=293&var=P260Q					YES	ANKRD11,missense_variant,p.Pro260Gln,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Pro260Gln,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000564553,;							MODERATE	779/7992	P260Q	ANR11_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000301030		CCDS32513.1			1	
DMBT1	0	LGGM	GRCh37	10	124402888	124402888	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	23	4	.	.	ENST00000368909.3:c.7216C>A	p.Pro2406Thr	p.P2406T	ENST00000368909	NM_007329.2	2406	Cca/Aca	0	1		UPI000047021C	0	NA	ENST00000338354		ENSG00000187908	2926		27	0		HGNC	p.P1778T		DMBT1		SNV			1				ENST00000327438	protein_coding	getma.org/?cm=var&var=hg19,10,124402888,C,A&fts=all				P/T		A	neutral	7322/7686		getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=2382&re=2413&var=P2406T	tolerated_low_confidence(0.09)	B6V682_HUMAN				DMBT1,missense_variant,p.Pro2406Thr,ENST00000338354,;DMBT1,missense_variant,p.Pro2406Thr,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Pro2396Thr,ENST00000344338,;DMBT1,missense_variant,p.Pro2396Thr,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Pro1778Thr,ENST00000368956,NM_004406.2;DMBT1,missense_variant,p.Pro1778Thr,ENST00000330163,;DMBT1,missense_variant,p.Pro1126Thr,ENST00000359586,;							MODERATE	7216/7242	P2406T	DMBT1_HUMAN			Transcript		benign(0.004)	.	ENSP00000342210					1	
FMO3	0	LGGM	GRCh37	1	171085370	171085370	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	73	4	.	.	ENST00000367755.4:c.1206G>T	p.Met402Ile	p.M402I	ENST00000367755	NM_001002294.2	402	atG/atT	0	1	1	UPI000016A103	0	NA	ENST00000367755		ENSG00000007933	3771		77	0.1		HGNC	p.M382I		FMO3		SNV			1				ENST00000542847	protein_coding	getma.org/?cm=var&var=hg19,1,171085370,G,T&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44,Superfamily_domains:SSF51905		M/I		T	neutral	1317/2087		getma.org/?cm=msa&ty=f&p=FMO3_HUMAN&rb=2&re=532&var=M402I	tolerated(0.18)				YES	FMO3,missense_variant,p.Met402Ile,ENST00000367755,NM_001002294.2;FMO3,missense_variant,p.Met402Ile,ENST00000392085,NM_006894.5;FMO3,missense_variant,p.Met382Ile,ENST00000542847,;FMO3,missense_variant,p.Met339Ile,ENST00000538429,;							MODERATE	1206/1599	M402I	FMO3_HUMAN			Transcript		benign(0)	.	ENSP00000356729		CCDS1292.1			1	
FFAR2	0	LGGM	GRCh37	19	35941358	35941358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	46	4	.	.	ENST00000599180.2:c.742C>A	p.Gln248Lys	p.Q248K	ENST00000599180		248	Cag/Aag	0	1		UPI0000050459	0	getma.org/pdb.php?prot=FFAR2_HUMAN&from=8&to=273&var=Q248K	ENST00000246549		ENSG00000126262	4501		50	1.115		HGNC	p.Q248K		FFAR2		SNV							ENST00000246549	protein_coding	getma.org/?cm=var&var=hg19,19,35941358,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF8,hmmpanther:PTHR24231,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Q/K		A	low	742/2051		getma.org/?cm=msa&ty=f&p=FFAR2_HUMAN&rb=8&re=273&var=Q248K	tolerated(0.8)	C6KYL4_HUMAN				FFAR2,missense_variant,p.Gln248Lys,ENST00000599180,;FFAR2,missense_variant,p.Gln248Lys,ENST00000246549,NM_005306.2;FFAR2,intron_variant,,ENST00000601590,;							MODERATE	742/993	Q248K	FFAR2_HUMAN			Transcript		benign(0.005)	.	ENSP00000246549		CCDS12461.1			1	
RP11-503C24.6	0	LGGM	GRCh37	6	168695321	168695321	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	7	4	.	.				ENST00000445442				0	1	1		0		ENST00000445442		ENSG00000224417			11		3428	Clone_based_vega_gene	p.S241L		RP11-503C24.6		SNV							ENST00000366796	sense_intronic							A		-/2559							YES	DACT2,missense_variant,p.Ser241Leu,ENST00000366796,NM_001286351.1;RP11-503C24.6,downstream_gene_variant,,ENST00000445442,;							MODIFIER						Transcript			.						1	
XYLT1	0	LGGM	GRCh37	16	17353070	17353070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	67	4	.	.	ENST00000261381.6:c.688G>T	p.Gly230Trp	p.G230W	ENST00000261381	NM_022166.3	230	Ggg/Tgg	0	1	1	UPI000000DCCE	0	NA	ENST00000261381		ENSG00000103489	15516		71	0.895		HGNC	p.G230W		XYLT1		SNV			1				ENST00000261381	protein_coding	getma.org/?cm=var&var=hg19,16,17353070,C,A&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF91		G/W		A	low	773/9891		getma.org/?cm=msa&ty=f&p=XYLT1_HUMAN&rb=128&re=245&var=G230W	tolerated_low_confidence(0.12)				YES	XYLT1,missense_variant,p.Gly230Trp,ENST00000261381,NM_022166.3;XYLT1,upstream_gene_variant,,ENST00000575674,;							MODERATE	688/2880	G230W	XYLT1_HUMAN			Transcript		benign(0.005)	.	ENSP00000261381		CCDS10569.1			1	
BCL9L	0	LGGM	GRCh37	11	118772586	118772586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	15	4	.	.	ENST00000334801.3:c.1866G>T	p.Met622Ile	p.M622I	ENST00000334801	NM_182557.2	622	atG/atT	0	1	1	UPI0000192102	0	NA	ENST00000334801		ENSG00000186174	23688		19	1.385		HGNC	p.M622I		BCL9L		SNV							ENST00000334801	protein_coding	getma.org/?cm=var&var=hg19,11,118772586,C,A&fts=all		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF3		M/I		A	low	2831/10005		getma.org/?cm=msa&ty=f&p=BCL9L_HUMAN&rb=441&re=879&var=M622I		E9PNR0_HUMAN			YES	BCL9L,missense_variant,p.Met622Ile,ENST00000334801,NM_182557.2;CXCR5,downstream_gene_variant,,ENST00000292174,NM_001716.4,NM_032966.2;BCL9L,non_coding_transcript_exon_variant,,ENST00000526143,;BCL9L,intron_variant,,ENST00000526514,;BCL9L,intron_variant,,ENST00000530293,;BCL9L,downstream_gene_variant,,ENST00000527266,;							MODERATE	1866/4500	M622I	BCL9L_HUMAN			Transcript		benign(0.035)	.	ENSP00000335320		CCDS8403.1			1	
LHCGR	0	LGGM	GRCh37	2	48915912	48915912	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	73	4	.	.	ENST00000294954.7:c.1024C>A	p.Arg342=	p.R342=	ENST00000294954	NM_000233.3	342	Cga/Aga	0	1	1	UPI000013E1E1	0		ENST00000294954		ENSG00000138039	6585		77			HGNC	p.R342R		LHCGR		SNV			1				ENST00000294954	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR01144,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF1		R		T		1046/3044				Q53S49_HUMAN,Q4ZFZ4_HUMAN			YES	LHCGR,synonymous_variant,p.=,ENST00000294954,NM_000233.3;LHCGR,synonymous_variant,p.=,ENST00000344775,;LHCGR,synonymous_variant,p.=,ENST00000405626,;STON1-GTF2A1L,intron_variant,,ENST00000402114,NM_001198593.1;LHCGR,intron_variant,,ENST00000403273,;LHCGR,intron_variant,,ENST00000401907,;GTF2A1L,intron_variant,,ENST00000508440,;							LOW	1024/2100		LSHR_HUMAN			Transcript			.	ENSP00000294954		CCDS1842.1			1	
DNAJB7	0	LGGM	GRCh37	22	41257950	41257950	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	69	4	.	.	ENST00000307221.4:c.49G>T	p.Glu17Ter	p.E17*	ENST00000307221	NM_145174.1	17	Gag/Tag	0	1	1	UPI000006FBAD	0	NA	ENST00000307221		ENSG00000172404	24986		73	0		HGNC	p.E17X		DNAJB7		SNV							ENST00000307221	protein_coding	getma.org/?cm=var&var=hg19,22,41257950,C,A&fts=all		Gene3D:1.10.287.110,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF16,SMART_domains:SM00271,Superfamily_domains:SSF46565		E/*		A	NA	181/2578		NA					YES	DNAJB7,stop_gained,p.Glu17Ter,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,;							HIGH	49/930	E17*	DNJB7_HUMAN			Transcript			.	ENSP00000307197		CCDS14008.1			1	
CBY1	0	LGGM	GRCh37	22	39069212	39069212	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	11	4	.	.	ENST00000396811.2:c.352G>T	p.Glu118Ter	p.E118*	ENST00000396811	NM_001002880.1	118	Gaa/Taa	0	1		UPI0000128720	0	NA	ENST00000216029		ENSG00000100211	1307		15	0		HGNC	p.E118X		CBY1		SNV							ENST00000396811	protein_coding	getma.org/?cm=var&var=hg19,22,39069212,G,T&fts=all		hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF20		E/*		T	NA	486/1133		NA		B0QY54_HUMAN,B0QY53_HUMAN				CBY1,stop_gained,p.Glu118Ter,ENST00000396811,NM_001002880.1;CBY1,stop_gained,p.Glu118Ter,ENST00000216029,NM_015373.3;CBY1,downstream_gene_variant,,ENST00000416285,;CBY1,downstream_gene_variant,,ENST00000411557,;RP3-508I15.9,intron_variant,,ENST00000444381,;RP3-508I15.9,intron_variant,,ENST00000431924,;RP3-508I15.9,upstream_gene_variant,,ENST00000422408,;RP3-508I15.9,downstream_gene_variant,,ENST00000412067,;RP3-508I15.10,upstream_gene_variant,,ENST00000423346,;CBY1,non_coding_transcript_exon_variant,,ENST00000489847,;CBY1,downstream_gene_variant,,ENST00000492576,;CBY1,downstream_gene_variant,,ENST00000485501,;CBY1,downstream_gene_variant,,ENST00000475924,;CBY1,downstream_gene_variant,,ENST00000492537,;CBY1,downstream_gene_variant,,ENST00000467118,;							HIGH	352/381	E118*	CBY1_HUMAN			Transcript			.	ENSP00000216029		CCDS13974.1			1	
NSMAF	0	LGGM	GRCh37	8	59499122	59499122	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	70	4	.	.	ENST00000427130.2:c.2434G>T	p.Gly812Cys	p.G812C	ENST00000427130	NM_001144772.1	812	Ggc/Tgc	0	1		UPI0000074572	0	NA	ENST00000038176		ENSG00000035681	8017		74	2.64		HGNC	p.G812C		NSMAF		SNV							ENST00000427130	protein_coding	getma.org/?cm=var&var=hg19,8,59499122,C,A&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13743,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/C		A	medium	2554/3569		getma.org/?cm=msa&ty=f&p=FAN_HUMAN&rb=741&re=794&var=G781C	deleterious(0)					NSMAF,missense_variant,p.Gly781Cys,ENST00000038176,NM_003580.3;NSMAF,missense_variant,p.Gly812Cys,ENST00000427130,NM_001144772.1;SDCBP,downstream_gene_variant,,ENST00000523483,;SDCBP,downstream_gene_variant,,ENST00000260130,NM_001007068.1,NM_005625.3,NM_001007069.1;SDCBP,downstream_gene_variant,,ENST00000422546,NM_001007067.1,NM_001007070.1;SDCBP,downstream_gene_variant,,ENST00000447182,;SDCBP,downstream_gene_variant,,ENST00000413219,;SDCBP,downstream_gene_variant,,ENST00000424270,;SDCBP,downstream_gene_variant,,ENST00000520168,;SDCBP,downstream_gene_variant,,ENST00000447267,;NSMAF,downstream_gene_variant,,ENST00000523177,;NSMAF,non_coding_transcript_exon_variant,,ENST00000521972,;NSMAF,non_coding_transcript_exon_variant,,ENST00000517612,;NSMAF,non_coding_transcript_exon_variant,,ENST00000521712,;NSMAF,downstream_gene_variant,,ENST00000523106,;NSMAF,downstream_gene_variant,,ENST00000519166,;NSMAF,downstream_gene_variant,,ENST00000524148,;NSMAF,downstream_gene_variant,,ENST00000519174,;AC068522.4,downstream_gene_variant,,ENST00000482895,;							MODERATE	2341/2754	G781C	FAN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000038176		CCDS6173.1			1	
ITPR2	0	LGGM	GRCh37	12	26647103	26647103	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	45	4	.	.	ENST00000381340.3:c.5353G>T	p.Gly1785Ter	p.G1785*	ENST00000381340	NM_002223.2	1785	Gga/Tga	0	1	1	UPI00001FB7D2	0	NA	ENST00000381340		ENSG00000123104	6181		49	0		HGNC	p.G1785X		ITPR2		SNV							ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26647103,C,A&fts=all		hmmpanther:PTHR13715		G/*		A	NA	5770/10511		NA		I1VE21_HUMAN			YES	ITPR2,stop_gained,p.Gly1785Ter,ENST00000381340,NM_002223.2;ITPR2,stop_gained,p.Gly22Ter,ENST00000451599,;ITPR2,non_coding_transcript_exon_variant,,ENST00000540429,;ITPR2,downstream_gene_variant,,ENST00000543958,;							HIGH	5353/8106	G1785*	ITPR2_HUMAN			Transcript			.	ENSP00000370744		CCDS41764.1			1	
FRMPD4	0	LGGM	GRCh37	X	12736647	12736647	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	41	4	.	.	ENST00000380682.1:c.3702C>A	p.Pro1234=	p.P1234=	ENST00000380682	NM_014728.3	1234	ccC/ccA	0	1	1	UPI00001C2066	0		ENST00000380682		ENSG00000169933	29007		45			HGNC	p.P1234P		FRMPD4		SNV							ENST00000380682	protein_coding			hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3		P		A		4208/8465							YES	FRMPD4,synonymous_variant,p.=,ENST00000380682,NM_014728.3;							LOW	3702/3969		FRPD4_HUMAN			Transcript			.	ENSP00000370057		CCDS35201.1			1	
ALDH1L1	0	LGGM	GRCh37	3	125873424	125873424	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	65	4	.	.	ENST00000273450.3:c.723G>T	p.Pro241=	p.P241=	ENST00000273450	NM_001270364.1	241	ccG/ccT	0	1		UPI000013EE40	0		ENST00000393434		ENSG00000144908	3978		69			HGNC	p.P231P		ALDH1L1		SNV							ENST00000393431	protein_coding			Gene3D:3.10.25.10,Pfam_domain:PF02911,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF50486		P		A		1043/3277				D6RFJ7_HUMAN,C9JYZ6_HUMAN,C9JY00_HUMAN,C9IZ36_HUMAN				ALDH1L1,synonymous_variant,p.=,ENST00000393434,NM_012190.3;ALDH1L1,synonymous_variant,p.=,ENST00000273450,NM_001270364.1;ALDH1L1,synonymous_variant,p.=,ENST00000472186,;ALDH1L1,synonymous_variant,p.=,ENST00000393431,;ALDH1L1,synonymous_variant,p.=,ENST00000452905,NM_001270365.1;ALDH1L1,synonymous_variant,p.=,ENST00000455064,;ALDH1L1,downstream_gene_variant,,ENST00000460368,;ALDH1L1,downstream_gene_variant,,ENST00000488356,;ALDH1L1,downstream_gene_variant,,ENST00000490367,;ALDH1L1,downstream_gene_variant,,ENST00000509952,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000413612,;ALDH1L1,3_prime_UTR_variant,,ENST00000473607,;ALDH1L1,3_prime_UTR_variant,,ENST00000493803,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000476245,;ALDH1L1,non_coding_transcript_exon_variant,,ENST00000484724,;ALDH1L1,downstream_gene_variant,,ENST00000511283,;							LOW	693/2709		AL1L1_HUMAN			Transcript			.	ENSP00000377083		CCDS3034.1			1	
MATN2	0	LGGM	GRCh37	8	99015930	99015930	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	62	4	.	.	ENST00000520016.1:c.1246G>T	p.Glu416Ter	p.E416*	ENST00000520016		416	Gag/Tag	0	1		UPI0001AE6EDA	0	NA	ENST00000254898		ENSG00000132561	6908		66	0		HGNC	p.E416X		MATN2		SNV							ENST00000254898	protein_coding	getma.org/?cm=var&var=hg19,8,99015930,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF17,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184		E/*		T	NA	1477/4109		NA		J3KN08_HUMAN,E5RJM4_HUMAN				MATN2,stop_gained,p.Glu416Ter,ENST00000254898,NM_002380.3,NM_030583.2;MATN2,stop_gained,p.Glu416Ter,ENST00000521689,;MATN2,stop_gained,p.Glu416Ter,ENST00000520016,;MATN2,stop_gained,p.Glu375Ter,ENST00000524308,;MATN2,stop_gained,p.Glu132Ter,ENST00000522025,;MATN2,stop_gained,p.Glu199Ter,ENST00000518154,;MATN2,stop_gained,p.Glu120Ter,ENST00000522270,;MATN2,stop_gained,p.Glu171Ter,ENST00000521041,;MATN2,non_coding_transcript_exon_variant,,ENST00000523490,;MATN2,upstream_gene_variant,,ENST00000521952,;							HIGH	1246/2874	E416*				Transcript			.	ENSP00000254898					1	
SLC6A6	0	LGGM	GRCh37	3	14509408	14509408	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	17	4	.	.	ENST00000454876.2:c.915C>A	p.Cys305Ter	p.C305*	ENST00000454876	NM_001134367.2	305	tgC/tgA	0	1	1	UPI000013549A	0	NA	ENST00000454876		ENSG00000131389	11052		21	0		HGNC	p.C305X		SLC6A6		SNV							ENST00000458124	protein_coding	getma.org/?cm=var&var=hg19,3,14509408,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616:SF116,hmmpanther:PTHR11616,Pfam_domain:PF00209,Superfamily_domains:0053687		C/*		A	NA	1244/6534		NA		C9JPV1_HUMAN			YES	SLC6A6,stop_gained,p.Cys305Ter,ENST00000454876,NM_001134367.2,NM_003043.4;SLC6A6,stop_gained,p.Cys305Ter,ENST00000360861,;SLC6A6,upstream_gene_variant,,ENST00000452151,;SLC6A6,stop_gained,p.Cys305Ter,ENST00000458124,;SLC6A6,stop_gained,p.Cys305Ter,ENST00000427436,;							HIGH	915/1863	C305*	SC6A6_HUMAN			Transcript			.	ENSP00000398063		CCDS33705.1			1	
SMARCA5	0	LGGM	GRCh37	4	144446639	144446639	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	94	4	.	.	ENST00000283131.3:c.556C>A	p.Arg186=	p.R186=	ENST00000283131	NM_003601.3	186	Cga/Aga	0	1	1	UPI000006E693	0		ENST00000283131		ENSG00000153147	11101		98			HGNC	p.R186R		SMARCA5		SNV			1				ENST00000283131	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF575,SMART_domains:SM00487,Superfamily_domains:SSF52540		R		A		1018/7923				Q4W5H1_HUMAN,Q4W5G3_HUMAN			YES	SMARCA5,synonymous_variant,p.=,ENST00000283131,NM_003601.3;							LOW	556/3159		SMCA5_HUMAN			Transcript			.	ENSP00000283131		CCDS3761.1			1	
RCE1	0	LGGM	GRCh37	11	66613020	66613020	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	44	4	.	.	ENST00000309657.3:c.741C>A	p.Leu247=	p.L247=	ENST00000309657	NM_005133.2	247	ctC/ctA	0	1	1	UPI000012A4C6	0		ENST00000309657		ENSG00000173653	13721	8.64E-05	48			HGNC	p.L124L	rs768080642	RCE1		SNV							ENST00000525356	protein_coding			Pfam_domain:PF02517,hmmpanther:PTHR13046:SF0,hmmpanther:PTHR13046,Transmembrane_helices:TMhelix		L		A		785/1485				E9PKA7_HUMAN			YES	RCE1,synonymous_variant,p.=,ENST00000309657,NM_005133.2,NM_001032279.1;RCE1,synonymous_variant,p.=,ENST00000525356,;RCE1,intron_variant,,ENST00000524506,;PC,downstream_gene_variant,,ENST00000393960,NM_001040716.1;PC,downstream_gene_variant,,ENST00000393958,NM_000920.3;PC,downstream_gene_variant,,ENST00000393955,NM_022172.2;C11orf80,downstream_gene_variant,,ENST00000360962,NM_024650.3;C11orf80,downstream_gene_variant,,ENST00000346672,;C11orf80,downstream_gene_variant,,ENST00000532565,;C11orf80,downstream_gene_variant,,ENST00000525449,;C11orf80,downstream_gene_variant,,ENST00000540737,;C11orf80,downstream_gene_variant,,ENST00000527634,;PC,downstream_gene_variant,,ENST00000529047,;C11orf80,downstream_gene_variant,,ENST00000531415,;PC,downstream_gene_variant,,ENST00000528224,;RCE1,downstream_gene_variant,,ENST00000534645,;PC,downstream_gene_variant,,ENST00000529352,;RCE1,3_prime_UTR_variant,,ENST00000524849,;RCE1,non_coding_transcript_exon_variant,,ENST00000533277,;C11orf80,downstream_gene_variant,,ENST00000532727,;RCE1,downstream_gene_variant,,ENST00000532775,;RCE1,downstream_gene_variant,,ENST00000530610,;RCE1,downstream_gene_variant,,ENST00000534822,;							LOW	741/990		FACE2_HUMAN			Transcript			.	ENSP00000309163	8.24E-06	CCDS8151.1			1	
OR5C1	0	LGGM	GRCh37	9	125551282	125551282	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	29	4	.	.	ENST00000373680.2:c.71G>T	p.Arg24Leu	p.R24L	ENST00000373680	NM_001001923.1	24	cGc/cTc	0	1	1	UPI0000061E7B	0	NA	ENST00000373680		ENSG00000148215	8331		33	-0.285		HGNC	p.R24L		OR5C1		SNV							ENST00000373680	protein_coding	getma.org/?cm=var&var=hg19,9,125551282,G,T&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF119,Superfamily_domains:SSF81321		R/L		T	neutral	133/1088		getma.org/?cm=msa&ty=f&p=OR5C1_HUMAN&rb=1&re=142&var=R24L	tolerated(0.1)	Q6IFM9_HUMAN			YES	OR5C1,missense_variant,p.Arg24Leu,ENST00000373680,NM_001001923.1;							MODERATE	71/963	R24L	OR5C1_HUMAN			Transcript		possibly_damaging(0.556)	.	ENSP00000362784		CCDS35131.1			1	
TMEM180	0	LGGM	GRCh37	10	104230520	104230520	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	4	.	.	ENST00000238936.4:c.350G>T	p.Trp117Leu	p.W117L	ENST00000238936	NM_024789.3	117	tGg/tTg	0	1	1	UPI00002374ED	0	NA	ENST00000238936		ENSG00000138111	26196		39	2.905		HGNC	p.W117L		TMEM180		SNV							ENST00000238936	protein_coding	getma.org/?cm=var&var=hg19,10,104230520,G,T&fts=all		Pfam_domain:PF13347,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		W/L		T	medium	587/2852		getma.org/?cm=msa&ty=f&p=TM180_HUMAN&rb=8&re=492&var=W117L	deleterious(0)	B4DKJ1_HUMAN			YES	TMEM180,missense_variant,p.Trp117Leu,ENST00000238936,NM_024789.3;TMEM180,intron_variant,,ENST00000366277,;TMEM180,intron_variant,,ENST00000369931,;TMEM180,downstream_gene_variant,,ENST00000450947,;TMEM180,upstream_gene_variant,,ENST00000469294,;TMEM180,downstream_gene_variant,,ENST00000428200,;							MODERATE	350/1554	W117L	TM180_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000238936		CCDS7535.1			1	
DPPA2	0	LGGM	GRCh37	3	109023497	109023497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	42	4	.	.	ENST00000478945.1:c.679C>A	p.His227Asn	p.H227N	ENST00000478945	NM_138815.3	227	Cat/Aat	0	1	1	UPI000007143F	0	NA	ENST00000478945		ENSG00000163530	19197		46	2.25		HGNC	p.H227N		DPPA2		SNV							ENST00000478945	protein_coding	getma.org/?cm=var&var=hg19,3,109023497,G,T&fts=all		Pfam_domain:PF14047,hmmpanther:PTHR16073,hmmpanther:PTHR16073:SF7		H/N		T	medium	926/1383		getma.org/?cm=msa&ty=f&p=DPPA2_HUMAN&rb=220&re=287&var=H227N	deleterious(0)				YES	DPPA2,missense_variant,p.His227Asn,ENST00000478945,NM_138815.3;							MODERATE	679/897	H227N	DPPA2_HUMAN			Transcript		benign(0.355)	.	ENSP00000417710		CCDS2956.1			1	
TTLL8	0	LGGM	GRCh37	22	50479663	50479663	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	48	4	.	.	ENST00000433387.1:c.938+387C>A		*313*	ENST00000433387				0	1	1	UPI0001915500	0		ENST00000433387		ENSG00000138892	34000		52			HGNC	p.Q292K		TTLL8		SNV							ENST00000266182	protein_coding							T		-/2549							YES	TTLL8,missense_variant,p.Gln292Lys,ENST00000266182,;TTLL8,intron_variant,,ENST00000433387,;TTLL8,intron_variant,,ENST00000440475,;							MODIFIER	-/2549		TTLL8_HUMAN			Transcript			.	ENSP00000392252					1	
EHMT1	0	LGGM	GRCh37	9	140676846	140676846	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	6	4	.	.	ENST00000460843.1:c.2379T>G	p.Val793=	p.V793=	ENST00000460843	NM_024757.4	793	gtT/gtG	0	1	1	UPI000194EC2D	0		ENST00000460843		ENSG00000181090	24650		10			HGNC	p.V793V		EHMT1		SNV			1				ENST00000462484	protein_coding			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF290,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		V		G		2406/5095				Q71M33_HUMAN,A0PJE0_HUMAN			YES	EHMT1,synonymous_variant,p.=,ENST00000460843,NM_024757.4;EHMT1,synonymous_variant,p.=,ENST00000462484,NM_001145527.1;EHMT1,synonymous_variant,p.=,ENST00000334856,;EHMT1,non_coding_transcript_exon_variant,,ENST00000371394,;EHMT1,synonymous_variant,p.=,ENST00000462942,;							LOW	2379/3897		EHMT1_HUMAN			Transcript			.	ENSP00000417980		CCDS7050.2			1	
FAM205B	0	LGGM	GRCh37	9	34835946	34835946	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	29	4	.	.	ENST00000399773.6:n.355G>T		*119*	ENST00000399773				0	1	1		0		ENST00000399773		ENSG00000257198	24504		33			HGNC	p.W117C		FAM205B		SNV							ENST00000399773	transcribed_unprocessed_pseudogene							A		355/4009							YES	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;							MODIFIER						Transcript			.						1	
PCDHA12	0	LGGM	GRCh37	5	140257124	140257124	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	52	4	.	.	ENST00000398631.2:c.2067C>A	p.Pro689=	p.P689=	ENST00000398631	NM_018903.2	689	ccC/ccA	0	1	1	UPI00001273D5	0		ENST00000398631		ENSG00000251664	8666		56			HGNC	p.P689P		PCDHA12		SNV							ENST00000398631	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76		P		A		2067/5233							YES	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;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;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,;PCDHA13,upstream_gene_variant,,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,upstream_gene_variant,,ENST00000409494,NM_031865.1;							LOW	2067/2826		PCDAC_HUMAN			Transcript			.	ENSP00000381628		CCDS47285.1			1	
BRPF3	0	LGGM	GRCh37	6	36169301	36169301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	4	.	.	ENST00000357641.6:c.1202C>A	p.Pro401His	p.P401H	ENST00000357641	NM_015695.2	401	cCt/cAt	0	1	1	UPI00001C1E4C	0	NA	ENST00000357641		ENSG00000096070	14256		29	0		HGNC	p.P401H		BRPF3		SNV							ENST00000543502	protein_coding	getma.org/?cm=var&var=hg19,6,36169301,C,A&fts=all		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF19		P/H		A	neutral	1455/6052		getma.org/?cm=msa&ty=f&p=BRPF3_HUMAN&rb=387&re=586&var=P401H	deleterious(0)	A8WI62_HUMAN,A8WI61_HUMAN			YES	BRPF3,missense_variant,p.Pro401His,ENST00000357641,NM_015695.2;BRPF3,missense_variant,p.Pro401His,ENST00000543502,;BRPF3,missense_variant,p.Pro401His,ENST00000339717,;BRPF3,missense_variant,p.Pro401His,ENST00000534694,;BRPF3,missense_variant,p.Pro401His,ENST00000443324,;BRPF3,missense_variant,p.Pro401His,ENST00000534400,;BRPF3,downstream_gene_variant,,ENST00000454960,;BRPF3,upstream_gene_variant,,ENST00000527657,;BRPF3,downstream_gene_variant,,ENST00000446974,;RP1-179N16.6,upstream_gene_variant,,ENST00000499560,;RP1-179N16.6,upstream_gene_variant,,ENST00000526611,;BRPF3,missense_variant,p.Pro374His,ENST00000441123,;BRPF3,missense_variant,p.Pro401His,ENST00000449261,;BRPF3,missense_variant,p.Pro401His,ENST00000532330,;							MODERATE	1202/3618	P401H	BRPF3_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000350267		CCDS34437.1			1	
SVIL	0	LGGM	GRCh37	10	29839723	29839723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	31	4	.	.	ENST00000375398.2:c.630G>T	p.Glu210Asp	p.E210D	ENST00000375398		210	gaG/gaT	0	1		UPI0000366678	0	NA	ENST00000355867		ENSG00000197321	11480		35	0.805		HGNC	p.E210D		SVIL		SNV							ENST00000355867	protein_coding	getma.org/?cm=var&var=hg19,10,29839723,C,A&fts=all				E/D		A	low	1383/7586		getma.org/?cm=msa&ty=f&p=SVIL_HUMAN&rb=1&re=1439&var=E210D	tolerated(0.46)	Q569J5_HUMAN				SVIL,missense_variant,p.Glu210Asp,ENST00000375398,;SVIL,missense_variant,p.Glu210Asp,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Glu210Asp,ENST00000375400,NM_003174.3;SVIL,downstream_gene_variant,,ENST00000483758,;							MODERATE	630/6645	E210D	SVIL_HUMAN			Transcript		benign(0.003)	.	ENSP00000348128		CCDS7164.1			1	
PHTF1	0	LGGM	GRCh37	1	114243432	114243432	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	58	5	.	.	ENST00000369604.1:c.2030T>C	p.Ile677Thr	p.I677T	ENST00000369604		677	aTa/aCa	0	1	1	UPI000013C9D0	0	NA	ENST00000369604		ENSG00000116793	8939		63	0.895		HGNC	p.I624T		PHTF1		SNV							ENST00000369600	protein_coding	getma.org/?cm=var&var=hg19,1,114243432,A,G&fts=all		hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF8		I/T		G	low	2514/3273		getma.org/?cm=msa&ty=f&p=PHTF1_HUMAN&rb=559&re=758&var=I677T	deleterious(0)	F6T5D1_HUMAN			YES	PHTF1,missense_variant,p.Ile677Thr,ENST00000369604,;PHTF1,missense_variant,p.Ile677Thr,ENST00000393357,NM_006608.2;PHTF1,missense_variant,p.Ile624Thr,ENST00000369596,;PHTF1,missense_variant,p.Ile624Thr,ENST00000369600,;PHTF1,missense_variant,p.Ile632Thr,ENST00000369598,;PHTF1,downstream_gene_variant,,ENST00000357783,;PHTF1,downstream_gene_variant,,ENST00000412670,;PHTF1,non_coding_transcript_exon_variant,,ENST00000474926,;PHTF1,non_coding_transcript_exon_variant,,ENST00000481652,;RP4-730K3.3,upstream_gene_variant,,ENST00000413412,;							MODERATE	2030/2289	I677T	PHTF1_HUMAN			Transcript		benign(0.211)	.	ENSP00000358617		CCDS861.1			1	
MIIP	0	LGGM	GRCh37	1	12090175	12090175	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	10	5	.	.	ENST00000235332.4:c.936G>A	p.Leu312=	p.L312=	ENST00000235332	NM_021933.3	312	ctG/ctA	0	1	1	UPI000013C9CB	0		ENST00000235332		ENSG00000116691	25715		15			HGNC	p.L312L		MIIP		SNV							ENST00000235332	protein_coding					L		A		1105/1573							YES	MIIP,synonymous_variant,p.=,ENST00000235332,NM_021933.3;MIIP,intron_variant,,ENST00000436478,;MIIP,non_coding_transcript_exon_variant,,ENST00000466860,;MIIP,non_coding_transcript_exon_variant,,ENST00000498685,;MIIP,non_coding_transcript_exon_variant,,ENST00000460823,;MIIP,downstream_gene_variant,,ENST00000492256,;MIIP,downstream_gene_variant,,ENST00000478749,;MIIP,upstream_gene_variant,,ENST00000478299,;							LOW	936/1167		MIIP_HUMAN			Transcript			.	ENSP00000235332		CCDS143.1			1	
HSPG2	0	LGGM	GRCh37	1	22170653	22170653	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	11	5	.	.	ENST00000374695.3:c.8604T>C	p.Pro2868=	p.P2868=	ENST00000374695	NM_005529.5	2868	ccT/ccC	0	1	1	UPI0000212778	0		ENST00000374695		ENSG00000142798	5273		16			HGNC	p.P2868P		HSPG2		SNV			1				ENST00000374695	protein_coding			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		P		G		8684/14327				B6EU51_HUMAN			YES	HSPG2,synonymous_variant,p.=,ENST00000374695,NM_005529.5;HSPG2,downstream_gene_variant,,ENST00000430507,;HSPG2,downstream_gene_variant,,ENST00000453796,;							LOW	8604/13176		PGBM_HUMAN			Transcript			.	ENSP00000363827		CCDS30625.1			1	
ZNF324B	0	LGGM	GRCh37	19	58967437	58967437	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	5	5	.	.	ENST00000336614.4:c.1126C>T	p.Arg376Cys	p.R376C	ENST00000336614	NM_207395.2	376	Cgc/Tgc	0	1	1	UPI000022AA2D	0	getma.org/pdb.php?prot=Z324B_HUMAN&from=355&to=378&var=R376C	ENST00000336614		ENSG00000249471	33107		10	2.115		HGNC	p.R366C		ZNF324B		SNV							ENST00000391696	protein_coding	getma.org/?cm=var&var=hg19,19,58967437,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/C		T	medium	1233/2996		getma.org/?cm=msa&ty=f&p=Z324B_HUMAN&rb=335&re=398&var=R376C	deleterious(0)	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN			YES	ZNF324B,missense_variant,p.Arg366Cys,ENST00000391696,;ZNF324B,missense_variant,p.Arg376Cys,ENST00000336614,NM_207395.2;ZNF324B,missense_variant,p.Arg376Cys,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000598244,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000599194,;							MODERATE	1126/1635	R376C	Z324B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337473		CCDS33138.1			1	
HYDIN	0	LGGM	GRCh37	16	70954802	70954802	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	8	5	.	.	ENST00000393567.2:c.7477G>A	p.Glu2493Lys	p.E2493K	ENST00000393567	NM_001270974.1	2493	Gag/Aag	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		13	1.385		HGNC	p.E2493K		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70954802,C,T&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		E/K		T	low	7628/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2360&re=2511&var=E2493K		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Glu2493Lys,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;							MODERATE	7477/15366	E2493K	HYDIN_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000377197		CCDS59269.1			1	
HAO2	0	LGGM	GRCh37	1	119923773	119923773	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	94	5	.	.	ENST00000325945.3:c.65G>T	p.Arg22Leu	p.R22L	ENST00000325945	NM_016527.2	22	cGg/cTg	0	1	1	UPI000000106A	0	getma.org/pdb.php?prot=HAOX2_HUMAN&from=13&to=348&var=R22L	ENST00000325945		ENSG00000116882	4810		99	-0.7		HGNC	p.R22L		HAO2		SNV							ENST00000325945	protein_coding	getma.org/?cm=var&var=hg19,1,119923773,G,T&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF56,Superfamily_domains:SSF51395		R/L		T	neutral	138/1417		getma.org/?cm=msa&ty=f&p=HAOX2_HUMAN&rb=13&re=348&var=R22L	tolerated(0.48)				YES	HAO2,missense_variant,p.Arg35Leu,ENST00000361035,NM_001005783.1;HAO2,missense_variant,p.Arg22Leu,ENST00000325945,NM_016527.2;HAO2,missense_variant,p.Arg22Leu,ENST00000457318,;							MODERATE	65/1056	R22L	HAOX2_HUMAN			Transcript		benign(0.012)	.	ENSP00000316339		CCDS901.1			1	
FBXO25	0	LGGM	GRCh37	8	385635	385635	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	66	5	.	.	ENST00000276326.5:c.309G>T	p.Leu103Phe	p.L103F	ENST00000276326	NM_183421.1	103	ttG/ttT	0	1		UPI000013DABB	0	NA	ENST00000382824		ENSG00000147364	13596		71	2.395		HGNC	p.L103F		FBXO25		SNV							ENST00000350302	protein_coding	getma.org/?cm=var&var=hg19,8,385635,G,T&fts=all		hmmpanther:PTHR13123,hmmpanther:PTHR13123:SF8		L/F		T	medium	267/1286		getma.org/?cm=msa&ty=f&p=FBX25_HUMAN&rb=1&re=200&var=L103F	deleterious(0)	H0YBS4_HUMAN				FBXO25,missense_variant,p.Leu36Phe,ENST00000352684,NM_012173.3;FBXO25,missense_variant,p.Leu103Phe,ENST00000276326,NM_183421.1;FBXO25,missense_variant,p.Leu103Phe,ENST00000350302,NM_183420.1;FBXO25,missense_variant,p.Leu36Phe,ENST00000382824,;FBXO25,missense_variant,p.Leu103Phe,ENST00000518240,;FBXO25,non_coding_transcript_exon_variant,,ENST00000524125,;FBXO25,non_coding_transcript_exon_variant,,ENST00000524015,;							MODERATE	108/876	L103F	FBX25_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000372274		CCDS5954.1			1	
OR2T27	0	LGGM	GRCh37	1	248814010	248814010	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	22	5	.	.	ENST00000344889.3:c.176T>C	p.Met59Thr	p.M59T	ENST00000344889	NM_001001824.1	59	aTg/aCg	0	1	1	UPI000004F239	0	getma.org/pdb.php?prot=OR2T7_HUMAN&from=1&to=129&var=M50T	ENST00000344889		ENSG00000187701	31252		27	3.805		HGNC	p.M59T	rs781662581	OR2T27		SNV							ENST00000344889	protein_coding	getma.org/?cm=var&var=hg19,1,248814010,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF78,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		M/T		G	high	176/954	1.55E-05	getma.org/?cm=msa&ty=f&p=OR2T7_HUMAN&rb=1&re=129&var=M50T	deleterious(0)				YES	OR2T27,missense_variant,p.Met59Thr,ENST00000344889,NM_001001824.1;							MODERATE	176/954	M50T	O2T27_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000342008	8.24E-06	CCDS31124.1			1	
NUDT16	0	LGGM	GRCh37	3	131100714	131100714	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	8	5	.	.	ENST00000502852.1:c.66G>A	p.Ala22=	p.A22=	ENST00000502852	NM_001171906.1	22	gcG/gcA	0	1		UPI000020A258	0		ENST00000521288		ENSG00000198585	26442		13			HGNC	p.A22A		NUDT16		SNV							ENST00000502852	protein_coding			Superfamily_domains:SSF55811,Gene3D:3.90.79.10,hmmpanther:PTHR31699,hmmpanther:PTHR31699:SF2,PROSITE_profiles:PS51462		A		A		97/6108				B4DIZ6_HUMAN				NUDT16,synonymous_variant,p.=,ENST00000521288,;NUDT16,synonymous_variant,p.=,ENST00000502852,NM_001171906.1;NUDT16,5_prime_UTR_variant,,ENST00000359850,NM_152395.2;NUDT16,intron_variant,,ENST00000537561,NM_001171905.1;RP11-933H2.4,upstream_gene_variant,,ENST00000502521,;							LOW	66/588		NUD16_HUMAN			Transcript			.	ENSP00000429274		CCDS3070.2			1	
C2orf42	0	LGGM	GRCh37	2	70409093	70409093	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	20	5	.	.	ENST00000264434.2:c.25A>G	p.Lys9Glu	p.K9E	ENST00000264434	NM_017880.1	9	Aaa/Gaa	0	1	1	UPI0000037CF2	0	NA	ENST00000264434		ENSG00000115998	26056		25	1.39		HGNC	p.K9E	COSM419121	C2orf42		SNV						1	ENST00000457952	protein_coding	getma.org/?cm=var&var=hg19,2,70409093,T,C&fts=all		hmmpanther:PTHR13518		K/E		C	low	405/2581		getma.org/?cm=msa&ty=f&p=CB042_HUMAN&rb=1&re=572&var=K9E	deleterious(0.01)	C9JZF3_HUMAN,C9JV10_HUMAN,C9JS43_HUMAN,C9JKD5_HUMAN,C9JK51_HUMAN,C9JJF4_HUMAN,C9J5U1_HUMAN,C9J4L7_HUMAN			YES	C2orf42,missense_variant,p.Lys9Glu,ENST00000264434,NM_017880.1;C2orf42,missense_variant,p.Lys9Glu,ENST00000420306,;C2orf42,missense_variant,p.Lys9Glu,ENST00000457952,;C2orf42,missense_variant,p.Lys9Glu,ENST00000428751,;C2orf42,missense_variant,p.Lys9Glu,ENST00000425268,;C2orf42,missense_variant,p.Lys9Glu,ENST00000417865,;C2orf42,missense_variant,p.Lys9Glu,ENST00000447804,;C2orf42,missense_variant,p.Lys9Glu,ENST00000417203,;C2orf42,missense_variant,p.Lys9Glu,ENST00000428010,;C2orf42,missense_variant,p.Lys9Glu,ENST00000419381,;C2orf42,non_coding_transcript_exon_variant,,ENST00000470096,;C2orf42,downstream_gene_variant,,ENST00000487560,;C2orf42,downstream_gene_variant,,ENST00000495353,;C2orf42,downstream_gene_variant,,ENST00000464505,;					1		MODERATE	25/1725	K9E	CB042_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000264434		CCDS1899.1			1	
SMR3B	0	LGGM	GRCh37	4	71255533	71255533	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	75	5	.	.	ENST00000304915.3:c.208G>T	p.Gly70Trp	p.G70W	ENST00000304915	NM_006685.3	70	Ggg/Tgg	0	1	1	UPI0000132226	0		ENST00000304915		ENSG00000171201	17326		80			HGNC	p.G70W		SMR3B		SNV							ENST00000304915	protein_coding			Pfam_domain:PF15621,hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF9,Low_complexity_(Seg):seg		G/W		T		357/785							YES	SMR3B,missense_variant,p.Gly70Trp,ENST00000304915,NM_006685.3;SMR3B,missense_variant,p.Gly70Trp,ENST00000504825,;SMR3B,downstream_gene_variant,,ENST00000508027,;							MODERATE	208/240		SMR3B_HUMAN			Transcript		unknown(0)	.	ENSP00000302400		CCDS3540.1			1	
FAM124A	0	LGGM	GRCh37	13	51825958	51825958	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	9	5	.	.	ENST00000280057.6:c.563C>T	p.Thr188Met	p.T188M	ENST00000280057	NM_145019.3	188	aCg/aTg	0	1		UPI000013DBFA	0	NA	ENST00000322475		ENSG00000150510	26413	0.000241	14	2.005		HGNC	p.T188M	rs774696456	FAM124A		SNV							ENST00000280057	protein_coding	getma.org/?cm=var&var=hg19,13,51825958,C,T&fts=all		hmmpanther:PTHR14715:SF4,hmmpanther:PTHR14715,Pfam_domain:PF15067		T/M		T	medium	590/4761		getma.org/?cm=msa&ty=f&p=F124A_HUMAN&rb=8&re=544&var=T152M	deleterious(0.04)					FAM124A,missense_variant,p.Thr152Met,ENST00000322475,NM_001242312.1;FAM124A,missense_variant,p.Thr188Met,ENST00000280057,NM_145019.3;							MODERATE	455/1641	T152M	F124A_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000324625	1.65E-05	CCDS55900.1			1	
EXOSC9	0	LGGM	GRCh37	4	122735069	122735069	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	66	5	.	.	ENST00000379663.3:c.1023G>T	p.Glu341Asp	p.E341D	ENST00000379663	NM_001034194.1	341	gaG/gaT	0	1		UPI000000DCB6	0	NA	ENST00000243498		ENSG00000123737	9137		71	1.5		HGNC	p.E341D		EXOSC9		SNV							ENST00000243498	protein_coding	getma.org/?cm=var&var=hg19,4,122735069,G,T&fts=all				E/D		T	low	1131/1481		getma.org/?cm=msa&ty=f&p=EXOS9_HUMAN&rb=257&re=439&var=E341D	tolerated(0.15)					EXOSC9,missense_variant,p.Glu325Asp,ENST00000512454,;EXOSC9,missense_variant,p.Glu341Asp,ENST00000379663,NM_001034194.1;EXOSC9,missense_variant,p.Glu341Asp,ENST00000243498,NM_005033.2;EXOSC9,missense_variant,p.Glu128Asp,ENST00000511132,;CCNA2,downstream_gene_variant,,ENST00000274026,NM_001237.3;EXOSC9,downstream_gene_variant,,ENST00000509800,;EXOSC9,non_coding_transcript_exon_variant,,ENST00000509980,;EXOSC9,non_coding_transcript_exon_variant,,ENST00000503139,;EXOSC9,non_coding_transcript_exon_variant,,ENST00000503236,;EXOSC9,downstream_gene_variant,,ENST00000508212,;EXOSC9,3_prime_UTR_variant,,ENST00000513654,;EXOSC9,downstream_gene_variant,,ENST00000511454,;							MODERATE	1023/1320	E341D	EXOS9_HUMAN			Transcript		benign(0.011)	.	ENSP00000243498		CCDS3722.2			1	
NEB	0	LGGM	GRCh37	2	152354182	152354182	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	129	5	.	.	ENST00000397345.3:c.24258C>A	p.Pro8086=	p.P8086=	ENST00000397345	NM_001164508.1	8086	ccC/ccA	0	1		UPI0000212787	0		ENST00000172853		ENSG00000183091	7720		134			HGNC	p.P8086P		NEB		SNV			1				ENST00000397345	protein_coding							T		-/20577				J3QK84_HUMAN				NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000397337,;NEB,synonymous_variant,p.=,ENST00000397336,;NEB,synonymous_variant,p.=,ENST00000421461,;NEB,intron_variant,,ENST00000409198,NM_004543.4;NEB,intron_variant,,ENST00000172853,;NEB,intron_variant,,ENST00000413693,;NEB,intron_variant,,ENST00000434685,;NEB,intron_variant,,ENST00000509223,;NEB,intron_variant,,ENST00000424585,;RIF1,intron_variant,,ENST00000457745,;RIF1,intron_variant,,ENST00000484077,;NEB,intron_variant,,ENST00000498015,;RIF1,intron_variant,,ENST00000454583,;NEB,upstream_gene_variant,,ENST00000497809,;							MODIFIER	-/20010					Transcript			.	ENSP00000172853					1	
SYNE2	0	LGGM	GRCh37	14	64489522	64489522	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	14	5	.	.	ENST00000358025.3:c.5578G>T	p.Glu1860Ter	p.E1860*	ENST00000358025	NM_182914.2	1860	Gag/Tag	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		19	0		HGNC	p.E1860X		SYNE2		SNV			1				ENST00000554584	protein_coding	getma.org/?cm=var&var=hg19,14,64489522,G,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		E/*		T	NA	5790/21777		NA		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,stop_gained,p.Glu1860Ter,ENST00000358025,NM_182914.2;SYNE2,stop_gained,p.Glu1860Ter,ENST00000344113,NM_015180.4;SYNE2,stop_gained,p.Glu1860Ter,ENST00000554584,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557005,;							HIGH	5578/20658	E1860*	SYNE2_HUMAN			Transcript			.	ENSP00000341781		CCDS41963.1			1	
LRRC55	0	LGGM	GRCh37	11	56949629	56949629	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	23	6	.	.	ENST00000497933.1:c.262C>T	p.Arg88Cys	p.R88C	ENST00000497933	NM_001005210.2	88	Cgt/Tgt	0	1	1	UPI00001C0E6F	0	NA	ENST00000497933		ENSG00000183908	32324	8.64E-05	29	1.725		HGNC	p.R88C	rs375170973	LRRC55	6.06E-05	SNV	T:0.0002			9.62E-05			ENST00000497933	protein_coding	getma.org/?cm=var&var=hg19,11,56949629,C,T&fts=all		Pfam_domain:PF01462,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF99,SMART_domains:SM00013,Superfamily_domains:SSF52058		R/C	T:0	T	low	409/5410		getma.org/?cm=msa&ty=f&p=LRC55_HUMAN&rb=30&re=97&var=R58C	tolerated(0.18)				YES	LRRC55,missense_variant,p.Arg88Cys,ENST00000497933,NM_001005210.2;							MODERATE	262/1026	R58C	LRC55_HUMAN			Transcript		benign(0.311)	.	ENSP00000419542	2.47E-05	CCDS31539.1			1	
HPDL	0	LGGM	GRCh37	1	45793932	45793932	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	11	6	.	.	ENST00000334815.3:c.1112C>A	p.Ala371Asp	p.A371D	ENST00000334815	NM_032756.2	371	gCc/gAc	0	1	1	UPI000004E83B	0	NA	ENST00000334815		ENSG00000186603	28242		17	1.95		HGNC	p.A371D		HPDL		SNV							ENST00000334815	protein_coding	getma.org/?cm=var&var=hg19,1,45793932,C,A&fts=all		hmmpanther:PTHR11959:SF5,hmmpanther:PTHR11959,PIRSF_domain:PIRSF009283		A/D		A	medium	1388/1803		getma.org/?cm=msa&ty=f&p=HPDL_HUMAN&rb=201&re=371&var=A371D	deleterious_low_confidence(0)				YES	HPDL,missense_variant,p.Ala371Asp,ENST00000334815,NM_032756.2;MUTYH,downstream_gene_variant,,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,downstream_gene_variant,,ENST00000372115,NM_001048171.1;MUTYH,downstream_gene_variant,,ENST00000372098,;MUTYH,downstream_gene_variant,,ENST00000372104,;MUTYH,downstream_gene_variant,,ENST00000372110,;MUTYH,downstream_gene_variant,,ENST00000372100,;MUTYH,downstream_gene_variant,,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,downstream_gene_variant,,ENST00000354383,;MUTYH,downstream_gene_variant,,ENST00000448481,;MUTYH,downstream_gene_variant,,ENST00000456914,NM_001048174.1;MUTYH,downstream_gene_variant,,ENST00000528013,;MUTYH,downstream_gene_variant,,ENST00000529984,;MUTYH,downstream_gene_variant,,ENST00000528332,;MUTYH,downstream_gene_variant,,ENST00000435155,;MUTYH,downstream_gene_variant,,ENST00000412971,;MUTYH,downstream_gene_variant,,ENST00000488731,;MUTYH,downstream_gene_variant,,ENST00000529892,;MUTYH,downstream_gene_variant,,ENST00000531105,;MUTYH,downstream_gene_variant,,ENST00000481571,;MUTYH,downstream_gene_variant,,ENST00000475516,;MUTYH,downstream_gene_variant,,ENST00000533178,;MUTYH,downstream_gene_variant,,ENST00000483642,;MUTYH,downstream_gene_variant,,ENST00000481139,;MUTYH,downstream_gene_variant,,ENST00000467459,;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,,ENST00000482094,;MUTYH,downstream_gene_variant,,ENST00000462388,;MUTYH,downstream_gene_variant,,ENST00000470256,;MUTYH,downstream_gene_variant,,ENST00000462387,;MUTYH,downstream_gene_variant,,ENST00000485484,;MUTYH,downstream_gene_variant,,ENST00000478796,;MUTYH,downstream_gene_variant,,ENST00000525160,;MUTYH,downstream_gene_variant,,ENST00000474703,;MUTYH,downstream_gene_variant,,ENST00000485271,;MUTYH,downstream_gene_variant,,ENST00000466231,;							MODERATE	1112/1116	A371D	HPDL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000335060		CCDS519.1			1	
DPH3	0	LGGM	GRCh37	3	16305707	16305707	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	17	6	.	.	ENST00000488423.1:c.138A>G	p.Ala46=	p.A46=	ENST00000488423	NM_206831.2	46	gcA/gcG	0	1	1	UPI000006D340	0		ENST00000488423		ENSG00000154813	27717		23			HGNC	p.A46A		DPH3		SNV							ENST00000488423	protein_coding			Pfam_domain:PF05207,PROSITE_profiles:PS51074,hmmpanther:PTHR21454,Superfamily_domains:SSF144217		A		C		234/3131							YES	DPH3,synonymous_variant,p.=,ENST00000488423,NM_206831.2;DPH3,intron_variant,,ENST00000383775,NM_001047434.2;OXNAD1,upstream_gene_variant,,ENST00000285083,NM_138381.3;OXNAD1,upstream_gene_variant,,ENST00000606098,;OXNAD1,upstream_gene_variant,,ENST00000605932,;OXNAD1,upstream_gene_variant,,ENST00000435829,;DPH3,non_coding_transcript_exon_variant,,ENST00000285082,;DPH3,non_coding_transcript_exon_variant,,ENST00000462982,;OXNAD1,upstream_gene_variant,,ENST00000442255,;OXNAD1,upstream_gene_variant,,ENST00000452581,;OXNAD1,upstream_gene_variant,,ENST00000486267,;							LOW	138/249		DPH3_HUMAN			Transcript			.	ENSP00000419599		CCDS2629.1			1	
INO80D	0	LGGM	GRCh37	2	206921317	206921317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	23	6	.	.	ENST00000403263.1:c.569G>T	p.Arg190Leu	p.R190L	ENST00000403263	NM_017759.4	190	cGa/cTa	0	1	1	UPI0000EE35FC	0	NA	ENST00000403263		ENSG00000114933	25997		29	0		HGNC	p.R85L		INO80D		SNV							ENST00000424117	protein_coding	getma.org/?cm=var&var=hg19,2,206921317,C,A&fts=all		hmmpanther:PTHR16198		R/L		A	neutral	974/14136		getma.org/?cm=msa&ty=f&p=IN80D_HUMAN&rb=81&re=280&var=R190L	tolerated(0.25)	C9JLZ4_HUMAN,C9JLV2_HUMAN			YES	INO80D,missense_variant,p.Arg190Leu,ENST00000403263,NM_017759.4;INO80D,missense_variant,p.Arg85Leu,ENST00000424117,;							MODERATE	569/3084	R190L	IN80D_HUMAN			Transcript		benign(0.007)	.	ENSP00000384198		CCDS46500.1			1	
XPO4	0	LGGM	GRCh37	13	21371013	21371013	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	6	.	.	ENST00000255305.6:c.2506A>T	p.Thr836Ser	p.T836S	ENST00000255305		836	Acc/Tcc	0	1	1	UPI0000139018	0	NA	ENST00000255305		ENSG00000132953	17796		41	-0.69		HGNC	p.T836S		XPO4		SNV							ENST00000255305	protein_coding	getma.org/?cm=var&var=hg19,13,21371013,T,A&fts=all		hmmpanther:PTHR12596:SF1,hmmpanther:PTHR12596,Superfamily_domains:SSF48371		T/S		A	neutral	2578/8375		getma.org/?cm=msa&ty=f&p=XPO4_HUMAN&rb=801&re=950&var=T836S	tolerated(0.76)	Q8IVQ8_HUMAN,Q0VG75_HUMAN			YES	XPO4,missense_variant,p.Thr836Ser,ENST00000400602,NM_022459.4;XPO4,missense_variant,p.Thr836Ser,ENST00000255305,;							MODERATE	2506/3456	T836S	XPO4_HUMAN			Transcript		benign(0.001)	.	ENSP00000255305		CCDS41872.1			1	
MDH1	0	LGGM	GRCh37	2	63831840	63831840	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	6	.	.	ENST00000539945.1:c.563A>C	p.Lys188Thr	p.K188T	ENST00000539945	NM_001199111.1	188	aAa/aCa	0	1		UPI0000167B3E	0	getma.org/pdb.php?prot=MDHC_HUMAN&from=156&to=331&var=K170T	ENST00000233114		ENSG00000014641	6970		31	3.205		HGNC	p.K170T		MDH1		SNV							ENST00000233114	protein_coding	getma.org/?cm=var&var=hg19,2,63831840,A,C&fts=all		Gene3D:3.90.110.10,HAMAP:MF_01517,Pfam_domain:PF02866,PIRSF_domain:PIRSF000102,hmmpanther:PTHR23382,Superfamily_domains:SSF56327,TIGRFAM_domain:TIGR01758,TIGRFAM_domain:TIGR01759		K/T		C	medium	944/1650		getma.org/?cm=msa&ty=f&p=MDHC_HUMAN&rb=156&re=331&var=K170T	deleterious(0.01)	C9JRL4_HUMAN				MDH1,missense_variant,p.Lys170Thr,ENST00000233114,NM_005917.3;MDH1,missense_variant,p.Lys188Thr,ENST00000539945,NM_001199111.1;MDH1,missense_variant,p.Lys170Thr,ENST00000394423,;MDH1,missense_variant,p.Lys81Thr,ENST00000544381,NM_001199112.1;MDH1,missense_variant,p.Lys188Thr,ENST00000432309,;MDH1,missense_variant,p.Lys46Thr,ENST00000409476,;MDH1,missense_variant,p.Lys5Thr,ENST00000409908,;WDPCP,intron_variant,,ENST00000490935,;WDPCP,intron_variant,,ENST00000467687,;MDH1,3_prime_UTR_variant,,ENST00000421012,;MDH1,downstream_gene_variant,,ENST00000484538,;MDH1,upstream_gene_variant,,ENST00000495083,;							MODERATE	509/1005	K170T	MDHC_HUMAN			Transcript		benign(0.386)	.	ENSP00000233114		CCDS1874.1			1	
RPH3A	0	LGGM	GRCh37	12	113313511	113313511	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	18	7	.	.	ENST00000389385.4:c.911C>T	p.Pro304Leu	p.P304L	ENST00000389385	NM_001143854.1	304	cCt/cTt	0	1	1	UPI000013456D	0	NA	ENST00000389385		ENSG00000089169	17056		25	1.905		HGNC	p.P300L		RPH3A		SNV							ENST00000551052	protein_coding	getma.org/?cm=var&var=hg19,12,113313511,C,T&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF118,Low_complexity_(Seg):seg		P/L		T	medium	1408/4679		getma.org/?cm=msa&ty=f&p=RP3A_HUMAN&rb=297&re=408&var=P304L	deleterious(0.04)	F8W1K7_HUMAN,F8W1A3_HUMAN,F8W131_HUMAN,F8W116_HUMAN,F8VZS2_HUMAN,F8VVK8_HUMAN,F8VV58_HUMAN,F8VTR7_HUMAN,F8VR41_HUMAN,F8VNW3_HUMAN,F8VNU2_HUMAN,F8VNP7_HUMAN			YES	RPH3A,missense_variant,p.Pro304Leu,ENST00000389385,NM_001143854.1,NM_014954.3;RPH3A,missense_variant,p.Pro304Leu,ENST00000415485,;RPH3A,missense_variant,p.Pro255Leu,ENST00000447659,;RPH3A,missense_variant,p.Pro304Leu,ENST00000420983,;RPH3A,missense_variant,p.Pro300Leu,ENST00000551052,;RPH3A,missense_variant,p.Pro304Leu,ENST00000543106,;RPH3A,missense_variant,p.Pro255Leu,ENST00000548866,;RPH3A,non_coding_transcript_exon_variant,,ENST00000549913,;RPH3A,non_coding_transcript_exon_variant,,ENST00000552755,;							MODERATE	911/2085	P304L	RP3A_HUMAN			Transcript		benign(0.147)	.	ENSP00000374036		CCDS44979.1			1	
PPP3R2	0	LGGM	GRCh37	9	104357180	104357180	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	38	7	.	.	ENST00000374806.1:c.33G>A	p.Pro11=	p.P11=	ENST00000374806	NM_147180.2	11	ccG/ccA	0	1	1	UPI0000035DAE	0		ENST00000374806		ENSG00000188386	9318		45			HGNC	p.P11P	rs367897972	PPP3R2		SNV				0.000107			ENST00000374806	protein_coding			hmmpanther:PTHR23056:SF29,hmmpanther:PTHR23056		P		T		104/3387							YES	PPP3R2,synonymous_variant,p.=,ENST00000374806,NM_147180.2;GRIN3A,intron_variant,,ENST00000361820,NM_133445.2;							LOW	33/522		CANB2_HUMAN			Transcript			.	ENSP00000363939	8.25E-06	CCDS6759.1			1	
IGF1R	0	LGGM	GRCh37	15	99459935	99459935	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	28	7	.	.	ENST00000268035.6:c.2031C>T	p.Thr677=	p.T677=	ENST00000268035	NM_000875.3	677	acC/acT	0	1	1	UPI000012D3EA	0		ENST00000268035		ENSG00000140443	5465		35			HGNC	p.T677T		IGF1R		SNV			1				ENST00000558762	protein_coding			Superfamily_domains:SSF49265,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416,PROSITE_profiles:PS50853		T		T		2642/11803				H0YNR0_HUMAN,H0YMJ5_HUMAN			YES	IGF1R,synonymous_variant,p.=,ENST00000268035,NM_000875.3;IGF1R,synonymous_variant,p.=,ENST00000558762,;IGF1R,downstream_gene_variant,,ENST00000559582,;IGF1R,missense_variant,p.His88Tyr,ENST00000560144,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;IGF1R,non_coding_transcript_exon_variant,,ENST00000561049,;							LOW	2031/4104		IGF1R_HUMAN			Transcript			.	ENSP00000268035		CCDS10378.1			1	
MAML2	0	LGGM	GRCh37	11	95825540	95825540	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	29	8	.	.	ENST00000524717.1:c.1655G>T	p.Arg552Leu	p.R552L	ENST00000524717	NM_032427.1	552	cGt/cTt	0	1	1	UPI00001B4EFC	0	NA	ENST00000524717		ENSG00000184384	16259		37	1.245		HGNC	p.R552L		MAML2		SNV							ENST00000524717	protein_coding	getma.org/?cm=var&var=hg19,11,95825540,C,A&fts=all		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9		R/L		A	low	2940/7106		getma.org/?cm=msa&ty=f&p=MAML2_HUMAN&rb=491&re=690&var=R552L					YES	MAML2,missense_variant,p.Arg552Leu,ENST00000524717,NM_032427.1;							MODERATE	1655/3471	R552L	MAML2_HUMAN			Transcript		benign(0.016)	.	ENSP00000434552		CCDS44714.1			1	
GGA2	0	LGGM	GRCh37	16	23505640	23505640	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	21	8	.	.	ENST00000309859.4:c.236C>G	p.Ala79Gly	p.A79G	ENST00000309859	NM_015044.4	79	gCt/gGt	0	1	1	UPI000013EF46	0	getma.org/pdb.php?prot=GGA2_HUMAN&from=20&to=159&var=A79G	ENST00000309859		ENSG00000103365	16064		29	3.005		HGNC	p.A79G		GGA2		SNV							ENST00000309859	protein_coding	getma.org/?cm=var&var=hg19,16,23505640,G,C&fts=all		PROSITE_profiles:PS50179,hmmpanther:PTHR13856:SF74,hmmpanther:PTHR13856,Pfam_domain:PF00790,Gene3D:1.25.40.90,SMART_domains:SM00288,Superfamily_domains:SSF48464		A/G		C	medium	319/5973		getma.org/?cm=msa&ty=f&p=GGA2_HUMAN&rb=20&re=159&var=A79G	deleterious(0)	H3BMN6_HUMAN			YES	GGA2,missense_variant,p.Ala79Gly,ENST00000309859,NM_015044.4;GGA2,missense_variant,p.Ala79Gly,ENST00000567468,;GGA2,missense_variant,p.Ala69Gly,ENST00000569300,;GGA2,missense_variant,p.Ala79Gly,ENST00000562944,;GGA2,missense_variant,p.Ala72Gly,ENST00000562117,;GGA2,3_prime_UTR_variant,,ENST00000569189,;GGA2,3_prime_UTR_variant,,ENST00000570111,;GGA2,3_prime_UTR_variant,,ENST00000563494,;GGA2,3_prime_UTR_variant,,ENST00000563047,;GGA2,non_coding_transcript_exon_variant,,ENST00000568799,;GGA2,non_coding_transcript_exon_variant,,ENST00000567201,;GGA2,non_coding_transcript_exon_variant,,ENST00000566651,;GGA2,downstream_gene_variant,,ENST00000566547,;							MODERATE	236/1842	A79G	GGA2_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000311962		CCDS10611.1			1	
FTMT	0	LGGM	GRCh37	5	121187737	121187737	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	14	8	.	.	ENST00000321339.1:c.79G>A	p.Ala27Thr	p.A27T	ENST00000321339	NM_177478.1	27	Gcg/Acg	0	1	1	UPI000006F87E	0	NA	ENST00000321339		ENSG00000181867	17345		22	0.46		HGNC	p.A27T		FTMT		SNV							ENST00000321339	protein_coding	getma.org/?cm=var&var=hg19,5,121187737,G,A&fts=all				A/T		A	neutral	88/870		getma.org/?cm=msa&ty=f&p=FTMT_HUMAN&rb=1&re=76&var=A27T	tolerated_low_confidence(0.34)				YES	FTMT,missense_variant,p.Ala27Thr,ENST00000321339,NM_177478.1;							MODERATE	79/729	A27T	FTMT_HUMAN			Transcript		benign(0.003)	.	ENSP00000313691		CCDS4128.1			1	
HIST1H4E	0	LGGM	GRCh37	6	26205049	26205049	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	8	.	.	ENST00000360441.4:c.177G>T	p.Leu59=	p.L59=	ENST00000360441	NM_003545.3	59	ctG/ctT	0	1	1	UPI000000003C	0		ENST00000360441		ENSG00000198518	4790		43			HGNC	p.L59L		HIST1H4E		SNV							ENST00000360441	protein_coding			Prints_domain:PR00623,Superfamily_domains:SSF47113,SMART_domains:SM00417,SMART_domains:SM00803,Pfam_domain:PF00125,Gene3D:1.10.20.10,hmmpanther:PTHR10484		L		T		192/1409				Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4E,synonymous_variant,p.=,ENST00000360441,NM_003545.3;HIST1H2BF,downstream_gene_variant,,ENST00000359985,NM_003522.3;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;							LOW	177/312		H4_HUMAN			Transcript			.	ENSP00000353624		CCDS4593.1			1	
TNIP1	0	LGGM	GRCh37	5	150443242	150443242	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	23	8	.	.	ENST00000389378.2:c.203A>G	p.Lys68Arg	p.K68R	ENST00000389378	NM_001252385.1	68	aAg/aGg	0	1		UPI000000DCDC	0	NA	ENST00000315050		ENSG00000145901	16903		31	0.805		HGNC	p.K15R		TNIP1		SNV							ENST00000519339	protein_coding	getma.org/?cm=var&var=hg19,5,150443242,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF3		K/R		C	low	313/2785		getma.org/?cm=msa&ty=f&p=TNIP1_HUMAN&rb=1&re=634&var=K68R	tolerated(0.54)	E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN				TNIP1,missense_variant,p.Lys68Arg,ENST00000389378,NM_001252385.1,NM_001258454.1,NM_006058.4,NM_001252393.1;TNIP1,missense_variant,p.Lys68Arg,ENST00000315050,NM_001252391.1;TNIP1,missense_variant,p.Lys68Arg,ENST00000523338,NM_001252392.1;TNIP1,missense_variant,p.Lys15Arg,ENST00000520931,NM_001252386.1;TNIP1,missense_variant,p.Lys68Arg,ENST00000521591,;TNIP1,missense_variant,p.Lys68Arg,ENST00000522226,NM_001252390.1;TNIP1,missense_variant,p.Lys68Arg,ENST00000518977,;TNIP1,missense_variant,p.Lys68Arg,ENST00000523200,NM_001258455.1;TNIP1,missense_variant,p.Lys68Arg,ENST00000524280,NM_001258456.1;TNIP1,missense_variant,p.Lys15Arg,ENST00000522100,;TNIP1,missense_variant,p.Lys68Arg,ENST00000520695,;TNIP1,missense_variant,p.Lys68Arg,ENST00000521001,;TNIP1,missense_variant,p.Lys15Arg,ENST00000519339,;							MODERATE	203/1911	K68R	TNIP1_HUMAN			Transcript		benign(0.011)	.	ENSP00000317891		CCDS34280.1			1	
TRPM4	0	LGGM	GRCh37	19	49671831	49671831	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	5	8	.	.	ENST00000252826.5:c.634C>T	p.Arg212Trp	p.R212W	ENST00000252826	NM_017636.3	212	Cgg/Tgg	0	1	1	UPI0000070598	0	NA	ENST00000252826		ENSG00000130529	17993	8.67E-05	13	0.895		HGNC	p.R212W	rs759593186,COSM1190105	TRPM4	6.06E-05	SNV			1			0,1	ENST00000427978	protein_coding	getma.org/?cm=var&var=hg19,19,49671831,C,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6		R/W		T	low	760/4109	3.03E-05	getma.org/?cm=msa&ty=f&p=TRPM4_HUMAN&rb=201&re=400&var=R212W	tolerated(0.18)				YES	TRPM4,missense_variant,p.Arg212Trp,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.Arg212Trp,ENST00000427978,NM_001195227.1;TRPM4,missense_variant,p.Arg97Trp,ENST00000598691,;TRPM4,5_prime_UTR_variant,,ENST00000355712,;TRPM4,upstream_gene_variant,,ENST00000601347,;TRPM4,synonymous_variant,p.=,ENST00000598502,;TRPM4,synonymous_variant,p.=,ENST00000598697,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,downstream_gene_variant,,ENST00000594568,;					0,1		MODERATE	634/3645	R212W	TRPM4_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000252826	3.29E-05	CCDS33073.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	30	11	.	.	ENST00000349496.5:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349496	NM_001904.3	32	Gac/Aac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32N	ENST00000349496	pathogenic	ENSG00000168036	2514		41	2.46		HGNC	p.D32N	rs28931588,COSM5672	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/N		A	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32N	deleterious(0.05)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Asn,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Asn,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32N	CTNB1_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000344456		CCDS2694.1			1	19635198
AMPD3	0	LGGM	GRCh37	11	10506533	10506533	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	16	9	.	.	ENST00000396554.3:c.783G>A	p.Glu261=	p.E261=	ENST00000396554	NM_000480.2	261	gaG/gaA	0	1		UPI0000125959	0		ENST00000396553		ENSG00000133805	470		25			HGNC	p.E252E		AMPD3		SNV			1				ENST00000529507	protein_coding			PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429		E		A		890/3680				E9PPG2_HUMAN,E9PLK6_HUMAN				AMPD3,synonymous_variant,p.=,ENST00000444303,NM_001172431.1;AMPD3,synonymous_variant,p.=,ENST00000396554,NM_000480.2;AMPD3,synonymous_variant,p.=,ENST00000396553,NM_001025389.1;AMPD3,synonymous_variant,p.=,ENST00000529507,NM_001172430.1;AMPD3,synonymous_variant,p.=,ENST00000528723,NM_001025390.1;AMPD3,synonymous_variant,p.=,ENST00000524866,;AMPD3,downstream_gene_variant,,ENST00000529835,;AMPD3,synonymous_variant,p.=,ENST00000529834,;AMPD3,3_prime_UTR_variant,,ENST00000534047,;AMPD3,non_coding_transcript_exon_variant,,ENST00000531227,;							LOW	756/2304		AMPD3_HUMAN			Transcript			.	ENSP00000379801		CCDS41617.1			1	
HIRIP3	0	LGGM	GRCh37	16	30005308	30005308	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	24	9	.	.	ENST00000279392.3:c.1158T>G	p.Ser386=	p.S386=	ENST00000279392	NM_003609.4	386	tcT/tcG	0	1	1	UPI000013DBC9	0		ENST00000279392		ENSG00000149929	4917		33			HGNC	p.S386S		HIRIP3		SNV							ENST00000279392	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15410,hmmpanther:PTHR15410:SF2		S		C		1989/3385				B3KQL0_HUMAN			YES	HIRIP3,synonymous_variant,p.=,ENST00000279392,NM_003609.4;HIRIP3,intron_variant,,ENST00000564026,NM_001197323.1;TAOK2,downstream_gene_variant,,ENST00000279394,NM_004783.3;INO80E,upstream_gene_variant,,ENST00000563197,NM_173618.1;INO80E,upstream_gene_variant,,ENST00000304516,;INO80E,upstream_gene_variant,,ENST00000567705,;INO80E,upstream_gene_variant,,ENST00000567254,;HIRIP3,downstream_gene_variant,,ENST00000566471,;INO80E,upstream_gene_variant,,ENST00000563040,;HIRIP3,intron_variant,,ENST00000563053,;HIRIP3,intron_variant,,ENST00000563680,;INO80E,upstream_gene_variant,,ENST00000569957,;INO80E,upstream_gene_variant,,ENST00000540562,;INO80E,upstream_gene_variant,,ENST00000567987,;TAOK2,downstream_gene_variant,,ENST00000570844,;INO80E,upstream_gene_variant,,ENST00000562441,;INO80E,upstream_gene_variant,,ENST00000567065,;HIRIP3,downstream_gene_variant,,ENST00000568880,;HIRIP3,downstream_gene_variant,,ENST00000565996,;INO80E,upstream_gene_variant,,ENST00000568043,;INO80E,upstream_gene_variant,,ENST00000380503,;							LOW	1158/1671		HIRP3_HUMAN			Transcript			.	ENSP00000279392		CCDS10664.1			1	
ODF2	0	LGGM	GRCh37	9	131256895	131256895	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	32	9	.	.	ENST00000434106.3:c.1859A>C	p.Tyr620Ser	p.Y620S	ENST00000434106	NM_153433.1	620	tAt/tCt	0	1	1	UPI0000211922	0	NA	ENST00000434106		ENSG00000136811	8114		41	1.245		HGNC	p.Y620S		ODF2		SNV							ENST00000393533	protein_coding	getma.org/?cm=var&var=hg19,9,131256895,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8		Y/S		C	low	2222/3890		getma.org/?cm=msa&ty=f&p=ODFP2_HUMAN&rb=529&re=797&var=Y620S	tolerated(0.06)	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN			YES	ODF2,missense_variant,p.Tyr620Ser,ENST00000434106,NM_153433.1;ODF2,missense_variant,p.Tyr596Ser,ENST00000393527,NM_002540.4;ODF2,missense_variant,p.Tyr615Ser,ENST00000351030,NM_153435.1,NM_001242352.1;ODF2,missense_variant,p.Tyr620Ser,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Tyr615Ser,ENST00000372807,;ODF2,missense_variant,p.Tyr596Ser,ENST00000444119,;ODF2,missense_variant,p.Tyr601Ser,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Tyr664Ser,ENST00000372814,NM_153439.1,NM_153432.1;ODF2,missense_variant,p.Tyr601Ser,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Tyr620Ser,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Tyr539Ser,ENST00000448249,NM_001242354.1;ODF2,missense_variant,p.Tyr40Ser,ENST00000483070,;ODF2,upstream_gene_variant,,ENST00000488909,;							MODERATE	1859/2490	Y620S	ODFP2_HUMAN			Transcript		benign(0.108)	.	ENSP00000403453		CCDS56588.1			1	
DDX52	0	LGGM	GRCh37	17	35980918	35980918	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	9	.	.	ENST00000349699.2:c.1577G>A	p.Ser526Asn	p.S526N	ENST00000349699	NM_007010.3	526	aGc/aAc	0	1	1	UPI0000046805	0	getma.org/pdb.php?prot=DDX52_HUMAN&from=385&to=546&var=S526N	ENST00000349699		ENSG00000141141	20038		34	0.77		HGNC	p.S526N		DDX52		SNV							ENST00000349699	protein_coding	getma.org/?cm=var&var=hg19,17,35980918,C,T&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF33		S/N		T	neutral	1621/6359		getma.org/?cm=msa&ty=f&p=DDX52_HUMAN&rb=385&re=546&var=S526N	deleterious(0.04)	A8MTP9_HUMAN			YES	DDX52,missense_variant,p.Ser526Asn,ENST00000349699,NM_007010.3;DDX52,missense_variant,p.Ser418Asn,ENST00000394367,;DDX52,missense_variant,p.Ser42Asn,ENST00000591354,;DDX52,splice_region_variant,,ENST00000488402,;DDX52,splice_region_variant,,ENST00000460080,;DDX52,non_coding_transcript_exon_variant,,ENST00000592520,;DDX52,downstream_gene_variant,,ENST00000589411,;							MODERATE	1577/1800	S526N	DDX52_HUMAN			Transcript		possibly_damaging(0.482)	.	ENSP00000268854		CCDS11323.1			1	
TIGIT	0	LGGM	GRCh37	3	114014642	114014642	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	21	9	.	.	ENST00000486257.1:c.312G>A	p.Gly104=	p.G104=	ENST00000486257		104	ggG/ggA	0	1		UPI000013F7B8	0		ENST00000383671		ENSG00000181847	26838		30			HGNC	p.G104G		TIGIT		SNV							ENST00000486257	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF62,PROSITE_profiles:PS50835		G		A		388/2967				C9JZW6_HUMAN,C9J0B0_HUMAN				TIGIT,synonymous_variant,p.=,ENST00000481065,;TIGIT,synonymous_variant,p.=,ENST00000486257,;TIGIT,synonymous_variant,p.=,ENST00000383671,NM_173799.3;TIGIT,synonymous_variant,p.=,ENST00000461158,;TIGIT,synonymous_variant,p.=,ENST00000484319,;TIGIT,non_coding_transcript_exon_variant,,ENST00000485814,;							LOW	312/735		TIGIT_HUMAN			Transcript			.	ENSP00000373167		CCDS2980.1			1	
H2AFY2	0	LGGM	GRCh37	10	71855504	71855504	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	20	10	.	.	ENST00000373255.4:c.683A>G	p.Asp228Gly	p.D228G	ENST00000373255	NM_018649.2	228	gAt/gGt	0	1	1	UPI000003F001	0	getma.org/pdb.php?prot=H2AW_HUMAN&from=216&to=330&var=D228G	ENST00000373255		ENSG00000099284	14453		30	-1.385		HGNC	p.D162G		H2AFY2		SNV							ENST00000455786	protein_coding	getma.org/?cm=var&var=hg19,10,71855504,A,G&fts=all		PROSITE_profiles:PS51154,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,PIRSF_domain:PIRSF037942,Superfamily_domains:SSF52949		D/G		G	neutral	947/1980		getma.org/?cm=msa&ty=f&p=H2AW_HUMAN&rb=216&re=330&var=D228G	tolerated(0.14)				YES	H2AFY2,missense_variant,p.Asp228Gly,ENST00000373255,NM_018649.2;H2AFY2,missense_variant,p.Asp162Gly,ENST00000455786,;AIFM2,downstream_gene_variant,,ENST00000373248,;							MODERATE	683/1119	D228G	H2AW_HUMAN			Transcript		benign(0.001)	.	ENSP00000362352		CCDS7296.1			1	
MED13	0	LGGM	GRCh37	17	60061681	60061681	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	43	10	.	.	ENST00000397786.2:c.2739A>T	p.Gly913=	p.G913=	ENST00000397786	NM_005121.2	913	ggA/ggT	0	1	1	UPI0000D7D6F6	0		ENST00000397786		ENSG00000108510	22474		53			HGNC	p.G913G		MED13		SNV							ENST00000397786	protein_coding			hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		G		A		2816/10465							YES	MED13,synonymous_variant,p.=,ENST00000397786,NM_005121.2;							LOW	2739/6525		MED13_HUMAN			Transcript			.	ENSP00000380888		CCDS42366.1			1	
OR8B12	0	LGGM	GRCh37	11	124413469	124413469	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	29	11	.	.	ENST00000306842.2:c.82T>C	p.Phe28Leu	p.F28L	ENST00000306842	NM_001005195.1	28	Ttc/Ctc	0	1	1	UPI0000041E25	0	getma.org/pdb.php?prot=OR8BC_HUMAN&from=1&to=137&var=F28L	ENST00000306842		ENSG00000170953	15307		40	-1.345		HGNC	p.F28L		OR8B12		SNV							ENST00000306842	protein_coding	getma.org/?cm=var&var=hg19,11,124413469,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF267,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		F/L		G	neutral	107/998		getma.org/?cm=msa&ty=f&p=OR8BC_HUMAN&rb=1&re=137&var=F28L	tolerated_low_confidence(0.25)				YES	OR8B12,missense_variant,p.Phe28Leu,ENST00000306842,NM_001005195.1;RP11-728D14.6,upstream_gene_variant,,ENST00000533869,;							MODERATE	82/933	F28L	OR8BC_HUMAN			Transcript		benign(0.008)	.	ENSP00000307159		CCDS31711.1			1	
VPS13D	0	LGGM	GRCh37	1	12416102	12416102	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	37	11	.	.	ENST00000358136.3:c.9826T>A	p.Leu3276Ile	p.L3276I	ENST00000358136	NM_015378.2	3276	Tta/Ata	0	1	1	UPI0000451CA9	0	NA	ENST00000358136		ENSG00000048707	23595		48	0.695		HGNC	p.L3251I		VPS13D		SNV							ENST00000356315	protein_coding	getma.org/?cm=var&var=hg19,1,12416102,T,A&fts=all		hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF06650		L/I		A	neutral	9956/16318		getma.org/?cm=msa&ty=f&p=VP13D_HUMAN&rb=3275&re=3559&var=L3275I		M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,missense_variant,p.Leu3276Ile,ENST00000358136,NM_015378.2;VPS13D,missense_variant,p.Leu3251Ile,ENST00000356315,NM_018156.2;VPS13D,missense_variant,p.Leu2098Ile,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;							MODERATE	9826/13167	L3275I				Transcript		probably_damaging(0.953)	.	ENSP00000350854		CCDS30588.1			1	
ALS2CL	0	LGGM	GRCh37	3	46717178	46717178	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	30	12	.	.	ENST00000318962.4:c.2187-2A>T		p.X729_splice	ENST00000318962	NM_147129.3			0	1	1	UPI00001B5641	0		ENST00000318962		ENSG00000178038	20605		42			HGNC	-		ALS2CL		SNV							ENST00000318962	protein_coding							A		-/4741				G3V0I7_HUMAN			YES	ALS2CL,splice_acceptor_variant,,ENST00000318962,NM_147129.3;ALS2CL,splice_acceptor_variant,,ENST00000415953,NM_001190707.1;ALS2CL,splice_acceptor_variant,,ENST00000383742,NM_182775.2;ALS2CL,3_prime_UTR_variant,,ENST00000450172,;ALS2CL,3_prime_UTR_variant,,ENST00000431015,;ALS2CL,3_prime_UTR_variant,,ENST00000423707,;ALS2CL,3_prime_UTR_variant,,ENST00000434140,;ALS2CL,non_coding_transcript_exon_variant,,ENST00000486301,;ALS2CL,upstream_gene_variant,,ENST00000498817,;ALS2CL,upstream_gene_variant,,ENST00000473484,;							HIGH	2187/2862		AL2CL_HUMAN			Transcript			.	ENSP00000313670		CCDS2743.1			1	
UTP20	0	LGGM	GRCh37	12	101715327	101715327	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	49	12	.	.	ENST00000261637.4:c.2961G>C	p.Glu987Asp	p.E987D	ENST00000261637	NM_014503.2	987	gaG/gaC	0	1	1	UPI00001FB38B	0	NA	ENST00000261637		ENSG00000120800	17897		61	2.98		HGNC	p.E987D		UTP20		SNV							ENST00000261637	protein_coding	getma.org/?cm=var&var=hg19,12,101715327,G,C&fts=all		Pfam_domain:PF07539,hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371		E/D		C	medium	3135/9025		getma.org/?cm=msa&ty=f&p=UTP20_HUMAN&rb=920&re=1064&var=E987D	deleterious(0.01)				YES	UTP20,missense_variant,p.Glu987Asp,ENST00000261637,NM_014503.2;							MODERATE	2961/8358	E987D	UTP20_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261637		CCDS9081.1			1	
MACC1	0	LGGM	GRCh37	7	20199556	20199556	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	54	12	.	.	ENST00000400331.5:c.428T>G	p.Leu143Arg	p.L143R	ENST00000400331	NM_182762.3	143	cTt/cGt	0	1		UPI00001B2F47	0	NA	ENST00000332878		ENSG00000183742	30215		66	1.7		HGNC	p.L143R		MACC1		SNV							ENST00000400331	protein_coding	getma.org/?cm=var&var=hg19,7,20199556,A,C&fts=all		hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1		L/R		C	low	542/2994		getma.org/?cm=msa&ty=f&p=MACC1_HUMAN&rb=1&re=200&var=L143R	deleterious(0)					MACC1,missense_variant,p.Leu143Arg,ENST00000400331,NM_182762.3;MACC1,missense_variant,p.Leu143Arg,ENST00000332878,;MACC1,missense_variant,p.Leu143Arg,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;							MODERATE	428/2559	L143R	MACC1_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000328410		CCDS5369.1			1	
OR5AC2	0	LGGM	GRCh37	3	97806798	97806798	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	37	12	.	.	ENST00000358642.2:c.782A>G	p.Tyr261Cys	p.Y261C	ENST00000358642	NM_054106.1	261	tAt/tGt	0	1	1	UPI0000441EFD	0	NA	ENST00000358642		ENSG00000196578	15431		49	3.24		HGNC	p.Y261C	rs745841554	OR5AC2	6.07E-05	SNV							ENST00000358642	protein_coding	getma.org/?cm=var&var=hg19,3,97806798,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF96,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/C		G	medium	782/930		getma.org/?cm=msa&ty=f&p=O5AC2_HUMAN&rb=141&re=285&var=Y261C	deleterious(0)				YES	OR5AC2,missense_variant,p.Tyr261Cys,ENST00000358642,NM_054106.1;							MODERATE	782/930	Y261C	O5AC2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000351466	8.24E-06	CCDS33796.1			1	
TCF4	0	LGGM	GRCh37	18	52896135	52896135	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	24	12	.	.	ENST00000398339.1:c.2128C>A	p.Leu710Ile	p.L710I	ENST00000398339	NM_001243226.1	710	Ctc/Atc	0	1		UPI000012DA19	0	getma.org/pdb.php?prot=ITF2_HUMAN&from=565&to=618&var=L604I	ENST00000356073		ENSG00000196628	11634		36	1.66		HGNC	p.L548I		TCF4		SNV			1				ENST00000566279	protein_coding	getma.org/?cm=var&var=hg19,18,52896135,G,T&fts=all		Gene3D:4.10.280.10,Pfam_domain:PF00010,PROSITE_profiles:PS50888,hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10,SMART_domains:SM00353,Superfamily_domains:SSF47459		L/I		T	low	2422/8317		getma.org/?cm=msa&ty=f&p=ITF2_HUMAN&rb=565&re=618&var=L604I	deleterious(0)	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				TCF4,missense_variant,p.Leu608Ile,ENST00000354452,NM_001083962.1;TCF4,missense_variant,p.Leu604Ile,ENST00000356073,NM_003199.2;TCF4,missense_variant,p.Leu584Ile,ENST00000537578,NM_001243227.1;TCF4,missense_variant,p.Leu614Ile,ENST00000564403,NM_001243228.1;TCF4,missense_variant,p.Leu579Ile,ENST00000568740,;TCF4,missense_variant,p.Leu580Ile,ENST00000540999,;TCF4,missense_variant,p.Leu710Ile,ENST00000398339,NM_001243226.1;TCF4,missense_variant,p.Leu448Ile,ENST00000457482,;TCF4,missense_variant,p.Leu608Ile,ENST00000565018,;TCF4,missense_variant,p.Leu584Ile,ENST00000568673,;TCF4,missense_variant,p.Leu604Ile,ENST00000564999,;TCF4,missense_variant,p.Leu562Ile,ENST00000543082,NM_001243231.1;TCF4,missense_variant,p.Leu537Ile,ENST00000544241,NM_001243232.1;TCF4,missense_variant,p.Leu474Ile,ENST00000561992,NM_001243233.1;TCF4,missense_variant,p.Leu548Ile,ENST00000566279,;TCF4,missense_variant,p.Leu601Ile,ENST00000566286,NM_001243230.1;TCF4,missense_variant,p.Leu544Ile,ENST00000567880,;TCF4,missense_variant,p.Leu474Ile,ENST00000537856,;TCF4,missense_variant,p.Leu533Ile,ENST00000564228,;TCF4,missense_variant,p.Leu444Ile,ENST00000570287,NM_001243235.1,NM_001243234.1;TCF4,missense_variant,p.Leu474Ile,ENST00000570177,;TCF4,missense_variant,p.Leu444Ile,ENST00000561831,NM_001243236.1;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;							MODERATE	1810/2004	L604I	ITF2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000348374		CCDS11960.1			1	
ITFG1	0	LGGM	GRCh37	16	47345258	47345258	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	31	13	.	.	ENST00000320640.6:c.963T>C	p.Asp321=	p.D321=	ENST00000320640	NM_030790.3	321	gaT/gaC	0	1	1	UPI0000039EB3	0		ENST00000320640		ENSG00000129636	30697		44			HGNC	p.D208D		ITFG1		SNV							ENST00000544001	protein_coding			hmmpanther:PTHR13412:SF0,hmmpanther:PTHR13412,Gene3D:3nigC00,Superfamily_domains:SSF69318		D		G		1192/3400				H3BQ64_HUMAN,B4DSA2_HUMAN,B4DHQ9_HUMAN			YES	ITFG1,synonymous_variant,p.=,ENST00000320640,NM_030790.3;ITFG1,synonymous_variant,p.=,ENST00000544001,;RP11-474B12.1,intron_variant,,ENST00000564739,;Y_RNA,downstream_gene_variant,,ENST00000410835,;ITFG1,non_coding_transcript_exon_variant,,ENST00000568047,;ITFG1,non_coding_transcript_exon_variant,,ENST00000542691,;ITFG1,non_coding_transcript_exon_variant,,ENST00000537184,;							LOW	963/1839		TIP_HUMAN			Transcript			.	ENSP00000319918		CCDS10728.1			1	
LZTS1	0	LGGM	GRCh37	8	20107548	20107548	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	13	.	.	ENST00000381569.1:c.1476C>T	p.Thr492=	p.T492=	ENST00000381569		492	acC/acT	0	1		UPI000006DEE8	0		ENST00000265801		ENSG00000061337	13861		38			HGNC	p.T492T		LZTS1		SNV			1				ENST00000265801	protein_coding			hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354,Pfam_domain:PF06818		T		A		1587/5459								LZTS1,synonymous_variant,p.=,ENST00000381569,;LZTS1,synonymous_variant,p.=,ENST00000265801,NM_021020.2;LZTS1,intron_variant,,ENST00000522290,;							LOW	1476/1791		LZTS1_HUMAN			Transcript			.	ENSP00000265801		CCDS6015.1			1	
EYS	0	LGGM	GRCh37	6	65303159	65303159	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	30	13	.	.	ENST00000503581.1:c.3728T>A	p.Ile1243Asn	p.I1243N	ENST00000503581	NM_001142800.1	1243	aTt/aAt	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		43	0.55		HGNC	p.I1243N		EYS		SNV			1				ENST00000370621	protein_coding	getma.org/?cm=var&var=hg19,6,65303159,A,T&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		I/N		T	neutral	3728/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=1196&re=1395&var=I1243N	deleterious(0)					EYS,missense_variant,p.Ile1243Asn,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ile1243Asn,ENST00000370621,;EYS,missense_variant,p.Ile1243Asn,ENST00000370616,;EYS,non_coding_transcript_exon_variant,,ENST00000330816,;							MODERATE	3728/9498	I1243N	EYS_HUMAN			Transcript		benign(0.026)	.	ENSP00000359650					1	
WWP1	0	LGGM	GRCh37	8	87455005	87455005	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	42	13	.	.	ENST00000517970.1:c.1996A>G	p.Met666Val	p.M666V	ENST00000517970	NM_007013.3	666	Atg/Gtg	0	1		UPI0000035537	0	getma.org/pdb.php?prot=WWP1_HUMAN&from=617&to=922&var=M666V	ENST00000265428		ENSG00000123124	17004		55	2.215		HGNC	p.M666V	COSM3901859	WWP1		SNV						1	ENST00000517970	protein_coding	getma.org/?cm=var&var=hg19,8,87455005,A,G&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF299,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,PIRSF_domain:PIRSF001569,Superfamily_domains:SSF56204		M/V		G	medium	2006/3362		getma.org/?cm=msa&ty=f&p=WWP1_HUMAN&rb=617&re=922&var=M666V	deleterious(0)	H0YBS9_HUMAN				WWP1,missense_variant,p.Met666Val,ENST00000517970,NM_007013.3;WWP1,missense_variant,p.Met666Val,ENST00000265428,;WWP1,missense_variant,p.Met536Val,ENST00000341922,;WWP1,missense_variant,p.Met448Val,ENST00000349423,;WWP1,missense_variant,p.Met167Val,ENST00000520453,;WWP1,splice_region_variant,,ENST00000518683,;WWP1,splice_region_variant,,ENST00000524036,;WWP1,splice_region_variant,,ENST00000521997,;					1		MODERATE	1996/2769	M666V	WWP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000265428		CCDS6242.1			1	
SH3TC2	0	LGGM	GRCh37	5	148422361	148422361	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	43	13	.	.	ENST00000515425.1:c.425A>G	p.His142Arg	p.H142R	ENST00000515425	NM_024577.3	142	cAc/cGc	0	1	1	UPI00001DFBEE	0	NA	ENST00000515425		ENSG00000169247	29427		56	1.39		HGNC	p.H142R		SH3TC2		SNV			1				ENST00000323829	protein_coding	getma.org/?cm=var&var=hg19,5,148422361,T,C&fts=all		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2		H/R		C	low	527/4059		getma.org/?cm=msa&ty=f&p=S3TC2_HUMAN&rb=1&re=200&var=H142R	deleterious(0.03)	B3KXB9_HUMAN			YES	SH3TC2,missense_variant,p.His142Arg,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.His135Arg,ENST00000512049,;SH3TC2,missense_variant,p.His27Arg,ENST00000394358,;SH3TC2,upstream_gene_variant,,ENST00000538184,;SH3TC2,upstream_gene_variant,,ENST00000503071,;SH3TC2,missense_variant,p.His142Arg,ENST00000323829,;SH3TC2,missense_variant,p.His142Arg,ENST00000504690,;SH3TC2,missense_variant,p.His142Arg,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000511949,;SH3TC2,downstream_gene_variant,,ENST00000504091,;SH3TC2,upstream_gene_variant,,ENST00000504517,;							MODERATE	425/3867	H142R	S3TC2_HUMAN			Transcript		benign(0.15)	.	ENSP00000423660		CCDS4293.1			1	
KLF8	0	LGGM	GRCh37	X	56292148	56292148	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	16	13	.	.	ENST00000468660.1:c.617T>C	p.Ile206Thr	p.I206T	ENST00000468660	NM_007250.4	206	aTt/aCt	0	1	1	UPI000012DED7	0	NA	ENST00000468660		ENSG00000102349	6351		29	1.175		HGNC	p.I206T		KLF8		SNV							ENST00000374928	protein_coding	getma.org/?cm=var&var=hg19,X,56292148,T,C&fts=all		hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF150		I/T		C	low	905/1543		getma.org/?cm=msa&ty=f&p=KLF8_HUMAN&rb=200&re=238&var=I206T	tolerated(0.06)				YES	KLF8,missense_variant,p.Ile206Thr,ENST00000374928,NM_001159296.1;KLF8,missense_variant,p.Ile206Thr,ENST00000468660,NM_007250.4;KLF8,missense_variant,p.Ile206Thr,ENST00000358094,;KLF8,non_coding_transcript_exon_variant,,ENST00000462627,;KLF8,non_coding_transcript_exon_variant,,ENST00000476898,;							MODERATE	617/1080	I206T	KLF8_HUMAN			Transcript		benign(0.017)	.	ENSP00000417303		CCDS14373.1			1	
C7orf34	0	LGGM	GRCh37	7	142636649	142636649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	16	13	.	.	ENST00000409607.3:c.6G>A	p.Gly2=	p.G2=	ENST00000409607	NM_178829.4	2	ggG/ggA	0	1	1	UPI00005A76EA	0		ENST00000409607		ENSG00000165131	21750		29			HGNC	p.G2G	rs770431663	C7orf34	0.000111	SNV							ENST00000409607	protein_coding			Cleavage_site_(Signalp):SignalP-noTM		G		A		47/766							YES	C7orf34,synonymous_variant,p.=,ENST00000409607,NM_178829.4;C7orf34,intron_variant,,ENST00000458732,;KEL,downstream_gene_variant,,ENST00000355265,NM_000420.2;KEL,downstream_gene_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;KEL,downstream_gene_variant,,ENST00000478969,;							LOW	6/444		CG034_HUMAN			Transcript			.	ENSP00000386450	1.65E-05	CCDS5876.2			1	
VIT	0	LGGM	GRCh37	2	36982172	36982172	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	26	13	.	.	ENST00000379242.3:c.384A>G	p.Arg128=	p.R128=	ENST00000379242	NM_053276.3	128	cgA/cgG	0	1		UPI00000389D9	0		ENST00000389975		ENSG00000205221	12697		39			HGNC	p.R106R		VIT		SNV							ENST00000404084	protein_coding			Superfamily_domains:0039469,Gene3D:1jbiA00,Pfam_domain:PF03815,PROSITE_profiles:PS50820,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF3		R		G		686/2770				C9J6F5_HUMAN				VIT,synonymous_variant,p.=,ENST00000379242,NM_053276.3;VIT,synonymous_variant,p.=,ENST00000389975,NM_001177970.1,NM_001177969.1;VIT,synonymous_variant,p.=,ENST00000379241,NM_001177971.1;VIT,synonymous_variant,p.=,ENST00000404084,;VIT,synonymous_variant,p.=,ENST00000401530,;VIT,synonymous_variant,p.=,ENST00000457137,NM_001177972.1;VIT,5_prime_UTR_variant,,ENST00000497382,;							LOW	384/2037		VITRN_HUMAN			Transcript			.	ENSP00000374625		CCDS54347.1			1	
HMCN1	0	LGGM	GRCh37	1	186089214	186089214	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	37	13	.	.	ENST00000271588.4:c.12166T>C	p.Tyr4056His	p.Y4056H	ENST00000271588	NM_031935.2	4056	Tac/Cac	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3988&to=4075&var=Y4056H	ENST00000271588		ENSG00000143341	19194		50	4.605		HGNC	p.Y4056H		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186089214,T,C&fts=all		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		Y/H		C	high	12395/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3988&re=4075&var=Y4056H					YES	HMCN1,missense_variant,p.Tyr4056His,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Tyr4056His,ENST00000367492,;							MODERATE	12166/16908	Y4056H	HMCN1_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000271588		CCDS30956.1			1	
MLLT4	0	LGGM	GRCh37	6	168315415	168315415	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	13	.	.	ENST00000392108.3:c.2275A>G	p.Ile759Val	p.I759V	ENST00000392108	NM_001040000.2	759	Ata/Gta	0	1		UPI000047089C	0	getma.org/pdb.php?prot=AFAD_HUMAN&from=668&to=908&var=I759V	ENST00000447894		ENSG00000130396	7137		48	-0.14		HGNC	p.I759V		MLLT4		SNV							ENST00000447894	protein_coding	getma.org/?cm=var&var=hg19,6,168315415,A,G&fts=all		PROSITE_profiles:PS51126,hmmpanther:PTHR10398		I/V		G	neutral	2275/5475		getma.org/?cm=msa&ty=f&p=AFAD_HUMAN&rb=668&re=908&var=I759V	tolerated(0.12)					MLLT4,missense_variant,p.Ile759Val,ENST00000366806,;MLLT4,missense_variant,p.Ile758Val,ENST00000400822,;MLLT4,missense_variant,p.Ile743Val,ENST00000392112,NM_001207008.1;MLLT4,missense_variant,p.Ile759Val,ENST00000392108,NM_001040000.2;MLLT4,missense_variant,p.Ile766Val,ENST00000351017,;MLLT4,missense_variant,p.Ile759Val,ENST00000447894,;MLLT4,missense_variant,p.Ile759Val,ENST00000344191,;MLLT4,downstream_gene_variant,,ENST00000423229,;MLLT4,upstream_gene_variant,,ENST00000497596,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;							MODERATE	2275/5475	I759V	AFAD_HUMAN			Transcript		possibly_damaging(0.473)	.	ENSP00000404595					1	
NOL4	0	LGGM	GRCh37	18	31802971	31802971	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	23	14	.	.	ENST00000261592.5:c.247G>T	p.Val83Leu	p.V83L	ENST00000261592	NM_001198546.1	83	Gtg/Ttg	0	1	1	UPI000059D504	0	NA	ENST00000261592		ENSG00000101746	7870		37	1.385		HGNC	p.V67L		NOL4		SNV							ENST00000590712	protein_coding	getma.org/?cm=var&var=hg19,18,31802971,C,A&fts=all		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8		V/L		A	low	545/3957		getma.org/?cm=msa&ty=f&p=NOL4_HUMAN&rb=1&re=636&var=V83L	tolerated(0.06)				YES	NOL4,missense_variant,p.Val83Leu,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,missense_variant,p.Val83Leu,ENST00000589544,;NOL4,missense_variant,p.Val67Leu,ENST00000590712,;NOL4,5_prime_UTR_variant,,ENST00000269185,NM_001198548.1;NOL4,upstream_gene_variant,,ENST00000535475,;NOL4,upstream_gene_variant,,ENST00000538587,NM_001198547.1;RP11-379L18.1,non_coding_transcript_exon_variant,,ENST00000587528,;NOL4,downstream_gene_variant,,ENST00000590846,;NOL4,upstream_gene_variant,,ENST00000587971,;NOL4,downstream_gene_variant,,ENST00000588355,;NOL4,upstream_gene_variant,,ENST00000586314,;NOL4,upstream_gene_variant,,ENST00000586309,;NOL4,upstream_gene_variant,,ENST00000591917,;							MODERATE	247/1917	V83L	NOL4_HUMAN			Transcript		possibly_damaging(0.512)	.	ENSP00000261592		CCDS11907.2			1	
MORC2	0	LGGM	GRCh37	22	31338108	31338108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	25	14	.	.	ENST00000215862.4:c.391G>A	p.Gly131Arg	p.G131R	ENST00000215862	NM_014941.1	131	Ggg/Agg	0	1		UPI000041AB7E	0	NA	ENST00000397641		ENSG00000133422	23573		39	2.545		HGNC	p.G131R		MORC2		SNV							ENST00000215862	protein_coding	getma.org/?cm=var&var=hg19,22,31338108,C,T&fts=all		hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337,Gene3D:3.30.565.10,Superfamily_domains:SSF55874		G/R		T	medium	986/5181		getma.org/?cm=msa&ty=f&p=MORC2_HUMAN&rb=165&re=364&var=G193R	deleterious(0.03)					MORC2,missense_variant,p.Gly193Arg,ENST00000397641,;MORC2,missense_variant,p.Gly131Arg,ENST00000215862,NM_014941.1;MORC2,non_coding_transcript_exon_variant,,ENST00000469915,;MORC2,non_coding_transcript_exon_variant,,ENST00000476152,;							MODERATE	577/3099	G193R	MORC2_HUMAN			Transcript		benign(0.285)	.	ENSP00000380763					1	
SPEN	0	LGGM	GRCh37	1	16256780	16256780	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	33	14	.	.	ENST00000375759.3:c.4045G>A	p.Gly1349Ser	p.G1349S	ENST00000375759	NM_015001.2	1349	Ggc/Agc	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		47	0		HGNC	p.G1349S		SPEN		SNV							ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16256780,G,A&fts=all		hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189		G/S		A	neutral	4249/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=1191&re=1589&var=G1349S					YES	SPEN,missense_variant,p.Gly1349Ser,ENST00000375759,NM_015001.2;							MODERATE	4045/10995	G1349S	MINT_HUMAN			Transcript		benign(0.001)	.	ENSP00000364912		CCDS164.1			1	
GAP43	0	LGGM	GRCh37	3	115382674	115382674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	68	14	.	.	ENST00000393780.3:c.49C>T	p.Pro17Ser	p.P17S	ENST00000393780	NM_001130064.1	17	Cct/Tct	0	1		UPI000012FF84	0		ENST00000305124		ENSG00000172020	4140		82			HGNC	p.P17S		GAP43		SNV							ENST00000393780	protein_coding							T		-/1691				Q5U058_HUMAN				GAP43,missense_variant,p.Pro17Ser,ENST00000393780,NM_001130064.1;GAP43,intron_variant,,ENST00000305124,NM_002045.3;RP11-326J18.1,downstream_gene_variant,,ENST00000491321,;							MODIFIER	-/717		NEUM_HUMAN			Transcript			.	ENSP00000305010		CCDS33830.1			1	
GLUL	0	LGGM	GRCh37	1	182357731	182357731	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	43	14	.	.	ENST00000311223.5:c.142G>C	p.Asp48His	p.D48H	ENST00000311223	NM_002065.5	48	Gac/Cac	0	1	1	UPI000012B6E3	0	getma.org/pdb.php?prot=GLNA_HUMAN&from=24&to=104&var=D48H	ENST00000311223		ENSG00000135821	4341		57	2.615		HGNC	p.D48H		GLUL		SNV			1				ENST00000311223	protein_coding	getma.org/?cm=var&var=hg19,1,182357731,C,G&fts=all		Pfam_domain:PF03951,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF45,Superfamily_domains:SSF54368		D/H		G	medium	1039/4719		getma.org/?cm=msa&ty=f&p=GLNA_HUMAN&rb=24&re=104&var=D48H	deleterious(0.03)	B4DWM6_HUMAN,A8YXX4_HUMAN			YES	GLUL,missense_variant,p.Asp48His,ENST00000311223,NM_002065.5;GLUL,missense_variant,p.Asp48His,ENST00000331872,NM_001033044.2;GLUL,missense_variant,p.Asp48His,ENST00000417584,NM_001033056.2;GLUL,missense_variant,p.Asp48His,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,;							MODERATE	142/1122	D48H	GLNA_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000307900		CCDS1344.1			1	
KCNQ5	0	LGGM	GRCh37	6	73905061	73905061	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	46	15	.	.	ENST00000342056.2:c.2780C>T	p.Ser927Leu	p.S927L	ENST00000342056	NM_001160132.1	927	tCa/tTa	0	1		UPI0000167EE4	0	NA	ENST00000370398		ENSG00000185760	6299		61	0.975		HGNC	p.S908L		KCNQ5		SNV							ENST00000370398	protein_coding	getma.org/?cm=var&var=hg19,6,73905061,C,T&fts=all				S/L		T	low	2832/6345		getma.org/?cm=msa&ty=f&p=KCNQ5_HUMAN&rb=848&re=932&var=S908L	deleterious_low_confidence(0)					KCNQ5,missense_variant,p.Ser927Leu,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Ser908Leu,ENST00000355194,;KCNQ5,missense_variant,p.Ser908Leu,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Ser918Leu,ENST00000402622,;KCNQ5,missense_variant,p.Ser909Leu,ENST00000355635,;KCNQ5,missense_variant,p.Ser899Leu,ENST00000403813,NM_001160130.1;KCNQ5,missense_variant,p.Ser798Leu,ENST00000414165,NM_001160134.1;							MODERATE	2723/2799	S908L	KCNQ5_HUMAN			Transcript		benign(0.342)	.	ENSP00000359425		CCDS4976.1			1	
INPP5F	0	LGGM	GRCh37	10	121586752	121586752	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	26	15	.	.	ENST00000361976.2:c.2859C>G	p.Ala953=	p.A953=	ENST00000361976	NM_014937.3	953	gcC/gcG	0	1	1	UPI000006FBCA	0		ENST00000361976		ENSG00000198825	17054		41			HGNC	p.A953A		INPP5F		SNV							ENST00000361976	protein_coding			hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF129		A		G		3025/4925							YES	INPP5F,synonymous_variant,p.=,ENST00000361976,NM_014937.3;INPP5F,synonymous_variant,p.=,ENST00000369080,NM_001243194.1;MCMBP,downstream_gene_variant,,ENST00000360003,NM_001256378.1,NM_001256379.1,NM_024834.3;MCMBP,downstream_gene_variant,,ENST00000369077,;MCMBP,downstream_gene_variant,,ENST00000466047,;INPP5F,downstream_gene_variant,,ENST00000490818,;							LOW	2859/3399		SAC2_HUMAN			Transcript			.	ENSP00000354519		CCDS7616.1			1	
ZFC3H1	0	LGGM	GRCh37	12	72009058	72009058	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	38	16	.	.	ENST00000378743.3:c.5183C>T	p.Ser1728Phe	p.S1728F	ENST00000378743	NM_144982.4	1728	tCt/tTt	0	1	1	UPI00003668E9	0	NA	ENST00000378743		ENSG00000133858	28328		54	0.55		HGNC	p.S1728F		ZFC3H1		SNV							ENST00000552994	protein_coding	getma.org/?cm=var&var=hg19,12,72009058,G,A&fts=all		hmmpanther:PTHR21563,Superfamily_domains:SSF48452		S/F		A	neutral	5542/7285		getma.org/?cm=msa&ty=f&p=ZC3H1_HUMAN&rb=1606&re=1805&var=S1728F	deleterious(0.02)				YES	ZFC3H1,missense_variant,p.Ser1728Phe,ENST00000378743,NM_144982.4;ZFC3H1,missense_variant,p.Ser1728Phe,ENST00000552994,;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000546771,;ZFC3H1,upstream_gene_variant,,ENST00000550963,;ZFC3H1,upstream_gene_variant,,ENST00000551487,;ZFC3H1,upstream_gene_variant,,ENST00000546475,;ZFC3H1,upstream_gene_variant,,ENST00000547398,;							MODERATE	5183/5970	S1728F	ZC3H1_HUMAN			Transcript		benign(0.122)	.	ENSP00000368017		CCDS41813.1			1	
FBXO5	0	LGGM	GRCh37	6	153292431	153292431	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	48	16	.	.	ENST00000229758.3:c.1211A>G	p.Asp404Gly	p.D404G	ENST00000229758	NM_012177.3	404	gAt/gGt	0	1	1	UPI000012A585	0	NA	ENST00000229758		ENSG00000112029	13584		64	2.19		HGNC	p.D358G		FBXO5		SNV							ENST00000367241	protein_coding	getma.org/?cm=var&var=hg19,6,153292431,T,C&fts=all		hmmpanther:PTHR15493,hmmpanther:PTHR15493:SF8		D/G		C	medium	1270/2037		getma.org/?cm=msa&ty=f&p=FBX5_HUMAN&rb=294&re=447&var=D404G	deleterious(0)				YES	FBXO5,missense_variant,p.Asp358Gly,ENST00000367241,NM_001142522.1;FBXO5,missense_variant,p.Asp404Gly,ENST00000229758,NM_012177.3;FBXO5,non_coding_transcript_exon_variant,,ENST00000477822,;							MODERATE	1211/1344	D404G	FBX5_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000229758		CCDS5242.1			1	
CEBPZ	0	LGGM	GRCh37	2	37455687	37455687	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	73	16	.	.	ENST00000234170.5:c.649A>G	p.Ile217Val	p.I217V	ENST00000234170	NM_005760.2	217	Atc/Gtc	0	1	1	UPI0000072AAB	0	NA	ENST00000234170		ENSG00000115816	24218		89	-0.05		HGNC	p.I217V		CEBPZ		SNV							ENST00000234170	protein_coding	getma.org/?cm=var&var=hg19,2,37455687,T,C&fts=all		hmmpanther:PTHR12048		I/V		C	neutral	795/3463		getma.org/?cm=msa&ty=f&p=CEBPZ_HUMAN&rb=110&re=309&var=I217V	tolerated(1)				YES	CEBPZ,missense_variant,p.Ile217Val,ENST00000234170,NM_005760.2;NDUFAF7,upstream_gene_variant,,ENST00000002125,NM_144736.4;NDUFAF7,upstream_gene_variant,,ENST00000336237,NM_001083946.1;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;CEBPZ,downstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;							MODERATE	649/3165	I217V	CEBPZ_HUMAN			Transcript		benign(0.002)	.	ENSP00000234170		CCDS1787.1			1	
MAST4	0	LGGM	GRCh37	5	66410072	66410072	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	45	16	.	.	ENST00000403625.2:c.1591+25T>A		*531*	ENST00000403625	NM_001164664.1			0	1	1	UPI000173A2B0	0		ENST00000403625		ENSG00000069020	19037		61			HGNC	p.L350H		MAST4		SNV							ENST00000490016	protein_coding							A		-/10711				J3QT34_HUMAN			YES	MAST4,missense_variant,p.Leu350His,ENST00000490016,;MAST4,intron_variant,,ENST00000404260,;MAST4,intron_variant,,ENST00000403625,NM_001164664.1;MAST4,intron_variant,,ENST00000405643,;MAST4,intron_variant,,ENST00000261569,;MAST4,intron_variant,,ENST00000403666,NM_015183.2;							MODIFIER	-/7872					Transcript			.	ENSP00000385727		CCDS54861.1			1	
LRP1	0	LGGM	GRCh37	12	57554818	57554818	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	35	17	.	.	ENST00000243077.3:c.2122A>G	p.Ile708Val	p.I708V	ENST00000243077	NM_002332.2	708	Atc/Gtc	0	1	1	UPI00001B044F	0	NA	ENST00000243077		ENSG00000123384	6692		52	0		HGNC	p.I708V		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57554818,A,G&fts=all		Gene3D:2.120.10.30,Pfam_domain:PF00058,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00135,Superfamily_domains:SSF63825		I/V		G	neutral	2588/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=660&re=708&var=I708V		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Ile708Val,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000556830,;							MODERATE	2122/13635	I708V	LRP1_HUMAN			Transcript		benign(0.034)	.	ENSP00000243077		CCDS8932.1			1	
SNX13	0	LGGM	GRCh37	7	17890495	17890495	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	58	17	.	.	ENST00000428135.3:c.930A>G	p.Ala310=	p.A310=	ENST00000428135	NM_015132.4	310	gcA/gcG	0	1	1	UPI000002B3E8	0		ENST00000428135		ENSG00000071189	21335		75			HGNC	p.A310A		SNX13		SNV							ENST00000428135	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26		A		C		1129/6357				B3KN60_HUMAN			YES	SNX13,synonymous_variant,p.=,ENST00000409389,;SNX13,synonymous_variant,p.=,ENST00000428135,NM_015132.4;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;							LOW	930/2874		SNX13_HUMAN			Transcript			.	ENSP00000398789		CCDS47551.1			1	
SLC9A4	0	LGGM	GRCh37	2	103124587	103124587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	51	17	.	.	ENST00000295269.4:c.1248C>A	p.Phe416Leu	p.F416L	ENST00000295269	NM_001011552.3	416	ttC/ttA	0	1	1	UPI000047F996	0	NA	ENST00000295269		ENSG00000180251	11077		68	-0.535		HGNC	p.F416L		SLC9A4		SNV							ENST00000295269	protein_coding	getma.org/?cm=var&var=hg19,2,103124587,C,A&fts=all		Pfam_domain:PF00999,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF103,TIGRFAM_domain:TIGR00840		F/L		A	neutral	1705/4138		getma.org/?cm=msa&ty=f&p=SL9A4_HUMAN&rb=73&re=477&var=F416L	tolerated(0.97)				YES	SLC9A4,missense_variant,p.Phe416Leu,ENST00000295269,NM_001011552.3;SLC9A4,downstream_gene_variant,,ENST00000492154,;							MODERATE	1248/2397	F416L	SL9A4_HUMAN			Transcript		benign(0.392)	.	ENSP00000295269		CCDS33264.1			1	
ROBO1	0	LGGM	GRCh37	3	78695305	78695305	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	44	18	.	.	ENST00000464233.1:c.2875G>A	p.Gly959Arg	p.G959R	ENST00000464233	NM_002941.3	959	Gga/Aga	0	1	1	UPI00000713D9	0	NA	ENST00000464233		ENSG00000169855	10249		62	1.32		HGNC	p.G959R		ROBO1		SNV							ENST00000464233	protein_coding	getma.org/?cm=var&var=hg19,3,78695305,C,T&fts=all		hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489		G/R		T	low	2989/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=865&re=1064&var=G959R	deleterious(0.01)				YES	ROBO1,missense_variant,p.Gly920Arg,ENST00000436010,;ROBO1,missense_variant,p.Gly959Arg,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Gly914Arg,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Gly914Arg,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;							MODERATE	2875/4956	G959R	ROBO1_HUMAN			Transcript		benign(0.4)	.	ENSP00000420321		CCDS54611.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102473370	102473370	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	33	18	.	.	ENST00000360184.4:c.5742G>A	p.Glu1914=	p.E1914=	ENST00000360184	NM_001376.4	1914	gaG/gaA	0	1	1	UPI00001B515A	0		ENST00000360184		ENSG00000197102	2961		51			HGNC	p.E1914E		DYNC1H1		SNV			1				ENST00000360184	protein_coding			hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12774,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		E		A		5906/14333				Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,synonymous_variant,p.=,ENST00000360184,NM_001376.4;							LOW	5742/13941		DYHC1_HUMAN			Transcript			.	ENSP00000348965		CCDS9966.1			1	
FSIP2	0	LGGM	GRCh37	2	186671604	186671604	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	53	18	.	.	ENST00000343098.5:c.17838G>T	p.Gly5946=	p.G5946=	ENST00000343098	NM_173651.2	5946	ggG/ggT	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		71			HGNC	p.G5857G		FSIP2		SNV							ENST00000424728	protein_coding			hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		G		T		17571/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;							LOW	17571/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306					1	
FAM193B	0	LGGM	GRCh37	5	176952117	176952117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	54	18	.	.	ENST00000514747.1:c.1365G>T	p.Arg455Ser	p.R455S	ENST00000514747	NM_001190946.1	455	agG/agT	0	1	1	UPI0001D3BB6A	0	NA	ENST00000514747		ENSG00000146067	25524		72	1.83		HGNC	p.R455S		FAM193B		SNV							ENST00000514747	protein_coding	getma.org/?cm=var&var=hg19,5,176952117,C,A&fts=all		hmmpanther:PTHR15109,hmmpanther:PTHR15109:SF3,Low_complexity_(Seg):seg		R/S		A	low	1414/2913		getma.org/?cm=msa&ty=f&p=F193B_HUMAN&rb=1&re=900&var=R535S	tolerated(0.13)	D6RDZ2_HUMAN,D6RC29_HUMAN,D6RAX9_HUMAN			YES	FAM193B,missense_variant,p.Arg81Ser,ENST00000329540,;FAM193B,missense_variant,p.Arg422Ser,ENST00000443375,;FAM193B,missense_variant,p.Arg455Ser,ENST00000514747,NM_001190946.1;FAM193B,missense_variant,p.Arg141Ser,ENST00000524677,;FAM193B,downstream_gene_variant,,ENST00000508298,;FAM193B,upstream_gene_variant,,ENST00000505241,;FAM193B,upstream_gene_variant,,ENST00000504130,;FAM193B,3_prime_UTR_variant,,ENST00000506955,;FAM193B,3_prime_UTR_variant,,ENST00000510479,;FAM193B,3_prime_UTR_variant,,ENST00000510163,;FAM193B,non_coding_transcript_exon_variant,,ENST00000505569,;FAM193B,non_coding_transcript_exon_variant,,ENST00000513502,;FAM193B,upstream_gene_variant,,ENST00000507212,;FAM193B,upstream_gene_variant,,ENST00000513282,;FAM193B,upstream_gene_variant,,ENST00000506879,;							MODERATE	1365/2469	R535S	F193B_HUMAN			Transcript		benign(0.013)	.	ENSP00000422131		CCDS54954.1			1	
CEACAM8	0	LGGM	GRCh37	19	43093096	43093096	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	36	19	.	.	ENST00000244336.5:c.798C>T	p.Pro266=	p.P266=	ENST00000244336	NM_001816.3	266	ccC/ccT	0	1	1	UPI00000012A3	0		ENST00000244336		ENSG00000124469	1820		55			HGNC	p.P266P		CEACAM8		SNV							ENST00000244336	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF60,hmmpanther:PTHR19955,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		A		900/2305				Q0Z7S6_HUMAN			YES	CEACAM8,synonymous_variant,p.=,ENST00000244336,NM_001816.3;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;							LOW	798/1050		CEAM8_HUMAN			Transcript			.	ENSP00000244336		CCDS12610.1			1	
DNAJC16	0	LGGM	GRCh37	1	15894614	15894614	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	32	19	.	.	ENST00000375847.3:c.2291G>A	p.Arg764His	p.R764H	ENST00000375847	NM_015291.2	764	cGc/cAc	0	1	1	UPI000000DBDB	0	NA	ENST00000375847		ENSG00000116138	29157		51	2.305		HGNC	p.R764H	rs756674792	DNAJC16		SNV							ENST00000375847	protein_coding	getma.org/?cm=var&var=hg19,1,15894614,G,A&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143		R/H		A	medium	2455/6069	1.52E-05	getma.org/?cm=msa&ty=f&p=DJC16_HUMAN&rb=646&re=782&var=R764H	deleterious(0)	B3KMS3_HUMAN			YES	DNAJC16,missense_variant,p.Arg764His,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,intron_variant,,ENST00000375849,;AGMAT,downstream_gene_variant,,ENST00000375826,NM_024758.4;DNAJC16,downstream_gene_variant,,ENST00000375838,;RP4-680D5.8,upstream_gene_variant,,ENST00000606186,;DNAJC16,non_coding_transcript_exon_variant,,ENST00000483270,;DNAJC16,upstream_gene_variant,,ENST00000495523,;DNAJC16,downstream_gene_variant,,ENST00000479655,;DNAJC16,downstream_gene_variant,,ENST00000490811,;DNAJC16,3_prime_UTR_variant,,ENST00000475133,;DNAJC16,downstream_gene_variant,,ENST00000472665,;							MODERATE	2291/2349	R764H	DJC16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000365007	8.24E-06	CCDS30606.1			1	
SCCPDH	0	LGGM	GRCh37	1	246921568	246921568	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	44	19	.	.	ENST00000366510.3:c.605A>G	p.Tyr202Cys	p.Y202C	ENST00000366510	NM_016002.2	202	tAt/tGt	0	1	1	UPI00000350AB	0	NA	ENST00000366510		ENSG00000143653	24275	8.65E-05	63	2.56		HGNC	p.Y202C	rs781555453	SCCPDH		SNV							ENST00000366510	protein_coding	getma.org/?cm=var&var=hg19,1,246921568,A,G&fts=all		Pfam_domain:PF03435,hmmpanther:PTHR12286,hmmpanther:PTHR12286:SF4		Y/C		G	medium	981/2503		getma.org/?cm=msa&ty=f&p=SCPDL_HUMAN&rb=201&re=400&var=Y202C	deleterious(0.01)				YES	SCCPDH,missense_variant,p.Tyr202Cys,ENST00000366510,NM_016002.2;RP11-439E19.6,upstream_gene_variant,,ENST00000413092,;							MODERATE	605/1290	Y202C	SCPDL_HUMAN			Transcript		benign(0.078)	.	ENSP00000355467	8.24E-06	CCDS31084.1			1	
QSER1	0	LGGM	GRCh37	11	32954160	32954160	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	55	19	.	.	ENST00000399302.2:c.969A>G	p.Gln323=	p.Q323=	ENST00000399302	NM_001076786.1	323	caA/caG	0	1	1	UPI0000E467AF	0		ENST00000399302		ENSG00000060749	26154		74			HGNC	p.Q323Q		QSER1		SNV							ENST00000399302	protein_coding			hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2		Q		G		1304/9335				E9PQD3_HUMAN,B3KWV1_HUMAN			YES	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,;							LOW	969/5208		QSER1_HUMAN			Transcript			.	ENSP00000382241		CCDS41631.1			1	
SLC44A5	0	LGGM	GRCh37	1	75684235	75684235	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	50	19	.	.	ENST00000370855.5:c.1469T>A	p.Met490Lys	p.M490K	ENST00000370855	NM_152697.4	490	aTg/aAg	0	1	1	UPI000013E195	0	NA	ENST00000370855		ENSG00000137968	28524		69	0.455		HGNC	p.M490K		SLC44A5		SNV							ENST00000370855	protein_coding	getma.org/?cm=var&var=hg19,1,75684235,A,T&fts=all		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42		M/K		T	neutral	1583/4406		getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=327&re=691&var=M490K	deleterious(0.05)	B7Z473_HUMAN			YES	SLC44A5,missense_variant,p.Met490Lys,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Met490Lys,ENST00000370859,NM_001130058.1;SLC44A5,missense_variant,p.Met360Lys,ENST00000535611,;							MODERATE	1469/2160	M490K	CTL5_HUMAN			Transcript		benign(0.014)	.	ENSP00000359892		CCDS667.1			1	
VNN3P	0	LGGM	GRCh37	6	133046111	133046111	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	48	19	.	.	ENST00000427187.2:c.545A>T	p.Glu182Val	p.E182V	ENST00000427187		182	gAa/gTa	0	1	1	UPI0001737A7C	0		ENST00000427187		ENSG00000093134	16431		67			HGNC	p.N118Y		VNN3		SNV							ENST00000423615	protein_coding			PROSITE_profiles:PS50263		E/V		A		545/1214			tolerated_low_confidence(0.17)	A0AUL5_HUMAN			YES	VNN3,missense_variant,p.Asn118Tyr,ENST00000509351,;VNN3,missense_variant,p.Glu182Val,ENST00000427187,;VNN3,missense_variant,p.Asn150Tyr,ENST00000417437,;VNN3,missense_variant,p.Asn118Tyr,ENST00000423615,;VNN3,missense_variant,p.Asn158Tyr,ENST00000450865,;VNN3,synonymous_variant,p.=,ENST00000207771,;VNN3,3_prime_UTR_variant,,ENST00000425515,;VNN3,3_prime_UTR_variant,,ENST00000367927,;VNN3,3_prime_UTR_variant,,ENST00000392393,;VNN3,3_prime_UTR_variant,,ENST00000519686,;VNN3,3_prime_UTR_variant,,ENST00000414302,;VNN3,3_prime_UTR_variant,,ENST00000275223,;VNN3,downstream_gene_variant,,ENST00000544102,;VNN3,downstream_gene_variant,,ENST00000580813,;							MODERATE	545/624		VNN3_HUMAN			Transcript		benign(0)	.	ENSP00000444491					1	
CCT6A	0	LGGM	GRCh37	7	56127988	56127988	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	40	20	.	.	ENST00000275603.4:c.1092del	p.Lys365AsnfsTer11	p.K365Nfs*11	ENST00000275603	NM_001762.3	364	gaG/ga	0	1	1	UPI0000136B11	0		ENST00000275603		ENSG00000146731	1620		60			HGNC	p.E319fs		CCT6A		deletion							ENST00000335503	protein_coding			Superfamily_domains:SSF52029,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02347,Pfam_domain:PF00118,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353		E/X		-		1311/2719							YES	CCT6A,frameshift_variant,p.Lys365AsnfsTer11,ENST00000275603,NM_001762.3;CCT6A,frameshift_variant,p.Lys320AsnfsTer11,ENST00000335503,NM_001009186.1;CCT6A,frameshift_variant,p.Lys334AsnfsTer11,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,;CCT6A,non_coding_transcript_exon_variant,,ENST00000466572,;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,;SUMF2,upstream_gene_variant,,ENST00000498777,;SUMF2,upstream_gene_variant,,ENST00000529457,;CCT6A,upstream_gene_variant,,ENST00000494736,;CCT6A,downstream_gene_variant,,ENST00000493855,;							HIGH	1092/1596		TCPZ_HUMAN			Transcript			.	ENSP00000275603		CCDS5523.1			1	
SLC6A20	0	LGGM	GRCh37	3	45817370	45817370	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	31	20	.	.	ENST00000358525.4:c.465T>C	p.Asn155=	p.N155=	ENST00000358525	NM_020208.3	155	aaT/aaC	0	1	1	UPI0000046064	0		ENST00000358525		ENSG00000163817	30927		51			HGNC	p.N155N		SLC6A20		SNV			1				ENST00000353278	protein_coding			PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF44,Pfam_domain:PF00209,Superfamily_domains:0053687,Prints_domain:PR01206		N		G		581/5423							YES	SLC6A20,synonymous_variant,p.=,ENST00000358525,NM_020208.3;SLC6A20,synonymous_variant,p.=,ENST00000353278,NM_022405.3;SLC6A20,synonymous_variant,p.=,ENST00000456124,;SLC6A20,synonymous_variant,p.=,ENST00000413781,;SLC6A20,upstream_gene_variant,,ENST00000473146,;							LOW	465/1779		S6A20_HUMAN			Transcript			.	ENSP00000346298		CCDS43077.1			1	
LAPTM4A	0	LGGM	GRCh37	2	20237151	20237151	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	51	20	.	.	ENST00000175091.4:c.358T>G	p.Phe120Val	p.F120V	ENST00000175091	NM_014713.4	120	Ttc/Gtc	0	1	1	UPI0000047513	0	NA	ENST00000175091		ENSG00000068697	6924		71	2.85		HGNC	p.F120V		LAPTM4A		SNV							ENST00000175091	protein_coding	getma.org/?cm=var&var=hg19,2,20237151,A,C&fts=all		Pfam_domain:PF03821,hmmpanther:PTHR12479,hmmpanther:PTHR12479:SF5,TIGRFAM_domain:TIGR00799,Transmembrane_helices:TMhelix		F/V		C	medium	866/1765		getma.org/?cm=msa&ty=f&p=LAP4A_HUMAN&rb=36&re=233&var=F120V	deleterious(0)	Q6IBP4_HUMAN,Q53QZ6_HUMAN,Q4ZG00_HUMAN			YES	LAPTM4A,missense_variant,p.Phe120Val,ENST00000175091,NM_014713.4;LAPTM4A,upstream_gene_variant,,ENST00000483117,;							MODERATE	358/702	F120V	LAP4A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000175091		CCDS1696.1			1	
OR4D5	0	LGGM	GRCh37	11	123811110	123811110	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	43	20	.	.	ENST00000307033.2:c.787C>A	p.Arg263=	p.R263=	ENST00000307033	NM_001001965.1	263	Cgg/Agg	0	1	1	UPI000003F227	0		ENST00000307033		ENSG00000171014	14852		63			HGNC	p.R263R		OR4D5		SNV							ENST00000307033	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF73,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		R		A		861/1095							YES	OR4D5,synonymous_variant,p.=,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;							LOW	787/957		OR4D5_HUMAN			Transcript			.	ENSP00000305970		CCDS31699.1			1	
C8orf34	0	LGGM	GRCh37	8	69445220	69445220	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	51	21	.	.	ENST00000518698.1:c.941T>G	p.Leu314Ter	p.L314*	ENST00000518698	NM_052958.2	314	tTa/tGa	0	1	1	UPI000021D12D	0	NA	ENST00000518698		ENSG00000165084	30905		72	0		HGNC	p.L228X		C8orf34		SNV							ENST00000539993	protein_coding	getma.org/?cm=var&var=hg19,8,69445220,T,G&fts=all		hmmpanther:PTHR32000,hmmpanther:PTHR32000:SF2		L/*		G	NA	1232/2223		NA					YES	C8orf34,stop_gained,p.Leu203Ter,ENST00000337103,;C8orf34,stop_gained,p.Leu228Ter,ENST00000348340,NM_001195639.1;C8orf34,stop_gained,p.Leu314Ter,ENST00000518698,NM_052958.2;C8orf34,stop_gained,p.Leu228Ter,ENST00000539993,;C8orf34,upstream_gene_variant,,ENST00000518515,;C8orf34,splice_region_variant,,ENST00000521406,;							HIGH	941/1617	L228*	CH034_HUMAN			Transcript			.	ENSP00000427820		CCDS6203.2			1	
OR4D5	0	LGGM	GRCh37	11	123811142	123811142	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	42	21	.	.	ENST00000307033.2:c.819G>T	p.Val273=	p.V273=	ENST00000307033	NM_001001965.1	273	gtG/gtT	0	1	1	UPI000003F227	0		ENST00000307033		ENSG00000171014	14852		63			HGNC	p.V273V		OR4D5		SNV							ENST00000307033	protein_coding			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		V		T		893/1095							YES	OR4D5,synonymous_variant,p.=,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;							LOW	819/957		OR4D5_HUMAN			Transcript			.	ENSP00000305970		CCDS31699.1			1	
PCDHA4	0	LGGM	GRCh37	5	140187892	140187892	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	46	21	.	.	ENST00000530339.1:c.1120G>A	p.Val374Met	p.V374M	ENST00000530339	NM_018907.2	374	Gtg/Atg	0	1	1	UPI00001273CC	0	getma.org/pdb.php?prot=PCDA4_HUMAN&from=355&to=446&var=V374M	ENST00000530339		ENSG00000204967	8670		67	3.845		HGNC	p.V374M		PCDHA4		SNV							ENST00000512229	protein_coding	getma.org/?cm=var&var=hg19,5,140187892,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/M		A	high	1120/5251		getma.org/?cm=msa&ty=f&p=PCDA4_HUMAN&rb=355&re=446&var=V374M	deleterious_low_confidence(0.01)				YES	PCDHA4,missense_variant,p.Val374Met,ENST00000530339,NM_018907.2;PCDHA4,missense_variant,p.Val374Met,ENST00000512229,;PCDHA4,missense_variant,p.Val374Met,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;PCDHA3,downstream_gene_variant,,ENST00000532566,NM_031497.1;							MODERATE	1120/2844	V374M	PCDA4_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000435300		CCDS54916.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H081048	H081048N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	155	74	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			229		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
LRRN3	0	LGGM	GRCh37	7	110763157	110763157	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	28	23	.	.	ENST00000451085.1:c.329T>A	p.Ile110Asn	p.I110N	ENST00000451085	NM_001099660.1	110	aTt/aAt	0	1		UPI0000037517	0	NA	ENST00000308478		ENSG00000173114	17200		51	1.52		HGNC	p.I110N		LRRN3		SNV							ENST00000451085	protein_coding	getma.org/?cm=var&var=hg19,7,110763157,T,A&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00365,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF7,hmmpanther:PTHR24373,PROSITE_profiles:PS51450		I/N		A	low	1268/3099		getma.org/?cm=msa&ty=f&p=LRRN3_HUMAN&rb=69&re=115&var=I110N	deleterious(0)	A4D0T1_HUMAN,E7EW58_HUMAN				LRRN3,missense_variant,p.Ile110Asn,ENST00000451085,NM_001099660.1;LRRN3,missense_variant,p.Ile110Asn,ENST00000422987,NM_018334.4;LRRN3,missense_variant,p.Ile110Asn,ENST00000308478,NM_001099658.1;LRRN3,missense_variant,p.Ile110Asn,ENST00000421101,;IMMP2L,intron_variant,,ENST00000405709,NM_032549.3;IMMP2L,intron_variant,,ENST00000331762,NM_001244606.1;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000450877,;IMMP2L,intron_variant,,ENST00000415362,;IMMP2L,intron_variant,,ENST00000437687,;IMMP2L,intron_variant,,ENST00000489381,;							MODERATE	329/2127	I110N	LRRN3_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000312001		CCDS5754.1			1	
GRM8	0	LGGM	GRCh37	7	126883044	126883044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	19	23	.	.	ENST00000339582.2:c.215G>T	p.Gly72Val	p.G72V	ENST00000339582		72	gGg/gTg	0	1	1	UPI000012F085	0	getma.org/pdb.php?prot=GRM8_HUMAN&from=1&to=73&var=G72V	ENST00000339582		ENSG00000179603	4600		42	2.79		HGNC	p.G72V		GRM8		SNV							ENST00000339582	protein_coding	getma.org/?cm=var&var=hg19,7,126883044,C,A&fts=all		Gene3D:3.40.50.2300,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822		G/V		A	medium	1024/4057		getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=1&re=73&var=G72V	deleterious(0)	E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,missense_variant,p.Gly72Val,ENST00000339582,;GRM8,missense_variant,p.Gly72Val,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Gly72Val,ENST00000444921,NM_000845.2;GRM8,missense_variant,p.Gly72Val,ENST00000405249,;GRM8,missense_variant,p.Gly72Val,ENST00000457830,;GRM8,downstream_gene_variant,,ENST00000412160,;GRM8,missense_variant,p.Gly72Val,ENST00000472701,;GRM8,missense_variant,p.Gly72Val,ENST00000341617,;							MODERATE	215/2727	G72V	GRM8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000344173		CCDS5794.1			1	
ARID4A	0	LGGM	GRCh37	14	58831985	58831985	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	54	23	.	.	ENST00000355431.3:c.3178A>G	p.Ile1060Val	p.I1060V	ENST00000355431	NM_002892.3	1060	Ata/Gta	0	1	1	UPI000013FD01	0	NA	ENST00000355431		ENSG00000032219	9885		77	0		HGNC	p.I1060V		ARID4A		SNV							ENST00000355431	protein_coding	getma.org/?cm=var&var=hg19,14,58831985,A,G&fts=all		hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF1		I/V		G	neutral	3551/5891		getma.org/?cm=msa&ty=f&p=ARI4A_HUMAN&rb=1031&re=1230&var=I1060V	tolerated(0.51)	H7C485_HUMAN,C9JIF4_HUMAN			YES	ARID4A,missense_variant,p.Ile1060Val,ENST00000355431,NM_002892.3;ARID4A,missense_variant,p.Ile1060Val,ENST00000431317,;ARID4A,missense_variant,p.Ile1060Val,ENST00000348476,NM_023001.2,NM_023000.2;ARID4A,missense_variant,p.Ile1060Val,ENST00000395168,;ARID4A,missense_variant,p.Ile738Val,ENST00000417477,;RP11-517O13.3,downstream_gene_variant,,ENST00000556390,;ARID4A,downstream_gene_variant,,ENST00000469635,;ARID4A,upstream_gene_variant,,ENST00000466065,;							MODERATE	3178/3774	I1060V	ARI4A_HUMAN			Transcript		benign(0)	.	ENSP00000347602		CCDS9732.1			1	
ITM2B	0	LGGM	GRCh37	13	48835274	48835274	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	51	24	.	.	ENST00000378565.5:c.716-1G>A		p.X239_splice	ENST00000378565	NM_021999.4			0	1	1	UPI00000009FF	0		ENST00000378565		ENSG00000136156	6174		75			HGNC	-		ITM2B		SNV			1				ENST00000378565	protein_coding							A		-/2104				Q5W0A3_HUMAN			YES	ITM2B,splice_acceptor_variant,,ENST00000378565,NM_021999.4;ITM2B,splice_acceptor_variant,,ENST00000378549,;ITM2B,missense_variant,p.Gly2Ser,ENST00000463839,;ITM2B,downstream_gene_variant,,ENST00000607866,;							HIGH	716/801		ITM2B_HUMAN			Transcript			.	ENSP00000367828		CCDS9409.1			1	
TTN	0	LGGM	GRCh37	2	179635322	179635322	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	58	24	.	.	ENST00000589042.1:c.8197C>T	p.Pro2733Ser	p.P2733S	ENST00000589042	NM_001267550.1	2733	Cct/Tct	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=2707&to=2785&var=P2733S	ENST00000591111		ENSG00000155657	12403		82	1.175		HGNC	p.P2733S		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179635322,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/S		A	low	8422/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=2707&re=2785&var=P2733S		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro2733Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro2733Ser,ENST00000591111,;TTN,missense_variant,p.Pro2733Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Pro2687Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Pro2687Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Pro2687Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Pro2733Ser,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,upstream_gene_variant,,ENST00000584485,;							MODERATE	8197/103053	P2733S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
RAD18	0	LGGM	GRCh37	3	8977635	8977635	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	48	25	.	.	ENST00000264926.2:c.809A>G	p.Asn270Ser	p.N270S	ENST00000264926	NM_020165.3	270	aAt/aGt	0	1	1	UPI000013D592	0	NA	ENST00000264926		ENSG00000070950	18278		73	-0.345		HGNC	p.N270S	rs749214530	RAD18		SNV							ENST00000264926	protein_coding	getma.org/?cm=var&var=hg19,3,8977635,T,C&fts=all		PROSITE_profiles:PS50800,hmmpanther:PTHR14134,hmmpanther:PTHR14134:SF2,Gene3D:1.10.720.30,Pfam_domain:PF02037,SMART_domains:SM00513		N/S		C	neutral	926/5886	1.50E-05	getma.org/?cm=msa&ty=f&p=RAD18_HUMAN&rb=248&re=282&var=N270S	tolerated(0.96)	H7C0A5_HUMAN,C9J0Q4_HUMAN			YES	RAD18,missense_variant,p.Asn270Ser,ENST00000264926,NM_020165.3;SNORA43,downstream_gene_variant,,ENST00000362945,;RAD18,missense_variant,p.Asn270Ser,ENST00000415439,;							MODERATE	809/1488	N270S	RAD18_HUMAN			Transcript		benign(0.016)	.	ENSP00000264926	8.24E-06	CCDS2571.1			1	
OR7E24	0	LGGM	GRCh37	19	9361797	9361797	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	114	25	.	.	ENST00000456448.1:c.78T>G	p.Gly26=	p.G26=	ENST00000456448	NM_001079935.1	26	ggT/ggG	0	1	1	UPI00003B2886	0		ENST00000456448		ENSG00000237521	8396		139			HGNC	p.G26G		OR7E24		SNV							ENST00000456448	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Superfamily_domains:SSF81321		G		G		192/1215				O43789_HUMAN			YES	OR7E24,synonymous_variant,p.=,ENST00000456448,NM_001079935.1;							LOW	78/1020		O7E24_HUMAN			Transcript			.	ENSP00000387523		CCDS45955.1			1	
KDM3B	0	LGGM	GRCh37	5	137728930	137728930	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	40	25	.	.	ENST00000314358.5:c.2700G>T	p.Gln900His	p.Q900H	ENST00000314358	NM_016604.3	900	caG/caT	0	1	1	UPI000020C6A8	0	NA	ENST00000314358		ENSG00000120733	1337		65	2.285		HGNC	p.Q556H		KDM3B		SNV							ENST00000394866	protein_coding	getma.org/?cm=var&var=hg19,5,137728930,G,T&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8		Q/H		T	medium	2900/6813		getma.org/?cm=msa&ty=f&p=KDM3B_HUMAN&rb=844&re=1043&var=Q900H	deleterious(0)	F5H275_HUMAN			YES	KDM3B,missense_variant,p.Gln900His,ENST00000314358,NM_016604.3;KDM3B,missense_variant,p.Gln556His,ENST00000394866,;KDM3B,5_prime_UTR_variant,,ENST00000542866,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,upstream_gene_variant,,ENST00000504095,;							MODERATE	2700/5286	Q900H	KDM3B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000326563		CCDS34242.1			1	
OR13D1	0	LGGM	GRCh37	9	107457226	107457226	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	72	26	.	.	ENST00000318763.5:c.524A>G	p.Gln175Arg	p.Q175R	ENST00000318763	NM_001004484.1	175	cAa/cGa	0	1	1	UPI0000061E68	0	NA	ENST00000318763		ENSG00000179055	14695		98	0.635		HGNC	p.Q175R		OR13D1		SNV							ENST00000318763	protein_coding	getma.org/?cm=var&var=hg19,9,107457226,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF129,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Q/R		G	neutral	567/1107		getma.org/?cm=msa&ty=f&p=O13D1_HUMAN&rb=171&re=315&var=Q175R	tolerated(0.41)				YES	OR13D1,missense_variant,p.Gln175Arg,ENST00000318763,NM_001004484.1;							MODERATE	524/1041	Q175R	O13D1_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000317357		CCDS35094.1			1	
SCN11A	0	LGGM	GRCh37	3	38949590	38949590	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	57	26	.	.	ENST00000302328.3:c.1323C>T	p.Asp441=	p.D441=	ENST00000302328	NM_014139.2	441	gaC/gaT	0	1	1	UPI000006CCD7	0		ENST00000302328		ENSG00000168356	10583		83			HGNC	p.D441D		SCN11A		SNV			1				ENST00000444237	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22		D		A		1522/6500							YES	SCN11A,synonymous_variant,p.=,ENST00000450244,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000444237,;SCN11A,synonymous_variant,p.=,ENST00000456224,;AC116038.1,downstream_gene_variant,,ENST00000401122,;							LOW	1323/5376		SCNBA_HUMAN			Transcript			.	ENSP00000307599		CCDS33737.1			1	
OR13D1	0	LGGM	GRCh37	9	107457225	107457225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	71	26	.	.	ENST00000318763.5:c.523C>A	p.Gln175Lys	p.Q175K	ENST00000318763	NM_001004484.1	175	Caa/Aaa	0	1	1	UPI0000061E68	0	NA	ENST00000318763		ENSG00000179055	14695		97	1.115		HGNC	p.Q175K		OR13D1		SNV							ENST00000318763	protein_coding	getma.org/?cm=var&var=hg19,9,107457225,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF129,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Q/K		A	low	566/1107		getma.org/?cm=msa&ty=f&p=O13D1_HUMAN&rb=171&re=315&var=Q175K	tolerated(0.3)				YES	OR13D1,missense_variant,p.Gln175Lys,ENST00000318763,NM_001004484.1;							MODERATE	523/1041	Q175K	O13D1_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000317357		CCDS35094.1			1	
HECTD1	0	LGGM	GRCh37	14	31644251	31644251	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	60	26	.	.	ENST00000399332.1:c.469C>G	p.Leu157Val	p.L157V	ENST00000399332	NM_015382.2	157	Cta/Gta	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		86	1.355		HGNC	p.L157V		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31644251,G,C&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75		L/V		C	low	958/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=1&re=338&var=L157V	tolerated(0.49)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Leu157Val,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Leu157Val,ENST00000553700,;HECTD1,missense_variant,p.Leu157Val,ENST00000556224,;HECTD1,upstream_gene_variant,,ENST00000554471,;HECTD1,downstream_gene_variant,,ENST00000553616,;							MODERATE	469/7833	L157V	HECD1_HUMAN			Transcript		benign(0.346)	.	ENSP00000382269		CCDS41939.1			1	
COL11A1	0	LGGM	GRCh37	1	103352409	103352409	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	57	27	.	.	ENST00000370096.3:c.4812C>A	p.Ala1604=	p.A1604=	ENST00000370096	NM_001854.3	1604	gcC/gcA	0	1	1	UPI00002053EF	0		ENST00000370096		ENSG00000060718	2186		84			HGNC	p.A1565A	rs760492074	COL11A1		SNV			1				ENST00000353414	protein_coding			Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,SMART_domains:SM00038		A		T		5125/7286	1.50E-05			Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	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;							LOW	4812/5421		COBA1_HUMAN			Transcript			.	ENSP00000359114	8.24E-06	CCDS778.1			1	
SLC44A1	0	LGGM	GRCh37	9	108118537	108118537	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	60	27	.	.	ENST00000374720.3:c.545C>A	p.Ser182Tyr	p.S182Y	ENST00000374720	NM_080546.3	182	tCc/tAc	0	1	1	UPI0000062328	0	NA	ENST00000374720		ENSG00000070214	18798		87	1.5		HGNC	p.S182Y		SLC44A1		SNV							ENST00000470972	protein_coding	getma.org/?cm=var&var=hg19,9,108118537,C,A&fts=all		hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF35		S/Y		A	low	792/10511		getma.org/?cm=msa&ty=f&p=CTL1_HUMAN&rb=1&re=200&var=S182Y	deleterious(0.01)	B3KMS7_HUMAN			YES	SLC44A1,missense_variant,p.Ser182Tyr,ENST00000374720,NM_080546.3;SLC44A1,missense_variant,p.Ser182Tyr,ENST00000374723,NM_001286730.1;SLC44A1,missense_variant,p.Ser182Tyr,ENST00000374724,;SLC44A1,5_prime_UTR_variant,,ENST00000343170,;SLC44A1,missense_variant,p.Ser182Tyr,ENST00000470972,;SLC44A1,non_coding_transcript_exon_variant,,ENST00000607701,;							MODERATE	545/1974	S182Y	CTL1_HUMAN			Transcript		benign(0.395)	.	ENSP00000363852		CCDS6763.1			1	
SRRT	0	LGGM	GRCh37	7	100486163	100486163	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	45	28	.	.	ENST00000347433.4:c.2624T>G	p.Phe875Cys	p.F875C	ENST00000347433		875	tTc/tGc	0	1	1	UPI0000126098	0	NA	ENST00000347433		ENSG00000087087	24101		73	1.245		HGNC	p.F498C		SRRT		SNV							ENST00000448764	protein_coding	getma.org/?cm=var&var=hg19,7,100486163,T,G&fts=all		hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0		F/C		G	low	2782/2904		getma.org/?cm=msa&ty=f&p=SRRT_HUMAN&rb=828&re=876&var=F875C	deleterious(0.01)				YES	SRRT,missense_variant,p.Phe874Cys,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,missense_variant,p.Phe871Cys,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,missense_variant,p.Phe875Cys,ENST00000347433,;SRRT,missense_variant,p.Phe870Cys,ENST00000432932,;SRRT,missense_variant,p.Phe498Cys,ENST00000448764,;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.3;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000426415,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,missense_variant,p.Ser110Ala,ENST00000445337,;SRRT,non_coding_transcript_exon_variant,,ENST00000477529,;ACHE,downstream_gene_variant,,ENST00000454485,;ACHE,downstream_gene_variant,,ENST00000442452,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,downstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,downstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000449389,;SRRT,downstream_gene_variant,,ENST00000466432,;SRRT,downstream_gene_variant,,ENST00000469602,;							MODERATE	2624/2631	F875C	SRRT_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000314491		CCDS34709.1			1	
MASTL	0	LGGM	GRCh37	10	27459857	27459857	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	47	28	.	.	ENST00000375940.4:c.1969A>C	p.Ser657Arg	p.S657R	ENST00000375940		657	Agt/Cgt	0	1	1	UPI000004060D	0	NA	ENST00000375940		ENSG00000120539	19042		75	2.295		HGNC	p.S657R		MASTL		SNV			1				ENST00000375946	protein_coding	getma.org/?cm=var&var=hg19,10,27459857,A,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24356,SMART_domains:SM00220		S/R		C	medium	2026/3080		getma.org/?cm=msa&ty=f&p=GWL_HUMAN&rb=205&re=691&var=S657R	deleterious(0)				YES	MASTL,missense_variant,p.Ser657Arg,ENST00000375946,NM_001172303.1,NM_032844.3;MASTL,missense_variant,p.Ser657Arg,ENST00000375940,;MASTL,missense_variant,p.Ser657Arg,ENST00000342386,NM_001172304.1;MASTL,non_coding_transcript_exon_variant,,ENST00000477034,;							MODERATE	1969/2640	S657R	GWL_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000365107		CCDS53502.1			1	
CCDC39	0	LGGM	GRCh37	3	180372581	180372581	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	87	29	.	.	ENST00000442201.2:c.899A>G	p.His300Arg	p.H300R	ENST00000442201	NM_181426.1	300	cAt/cGt	0	1	1	UPI00015D7298	0	NA	ENST00000442201		ENSG00000145075	25244		116	1.04		HGNC	p.H300R	rs554681004	CCDC39	0.000248	SNV			1				ENST00000476379	protein_coding	getma.org/?cm=var&var=hg19,3,180372581,T,C&fts=all	C:0	hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962		H/R		C	low	1019/3279		getma.org/?cm=msa&ty=f&p=CCD39_HUMAN&rb=1&re=348&var=H300R	tolerated(0.21)		C:0	C:0	YES	CCDC39,missense_variant,p.His384Arg,ENST00000273654,;CCDC39,missense_variant,p.His300Arg,ENST00000442201,NM_181426.1;CCDC39,missense_variant,p.His300Arg,ENST00000476379,;		C:0.0002					MODERATE	899/2826	H300R	CCD39_HUMAN		C:0	Transcript		benign(0.026)	.	ENSP00000405708	3.31E-05	CCDS46964.1		C:0.001	1	
CNTNAP5	0	LGGM	GRCh37	2	125281971	125281971	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	50	29	.	.	ENST00000431078.1:c.1416C>G	p.Pro472=	p.P472=	ENST00000431078	NM_130773.3	472	ccC/ccG	0	1	1	UPI0000071988	0		ENST00000431078		ENSG00000155052	18748		79			HGNC	p.P472P		CNTNAP5		SNV							ENST00000431078	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		P		G		1780/5284							YES	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;							LOW	1416/3921		CNTP5_HUMAN			Transcript			.	ENSP00000399013		CCDS46401.1			1	
GPSM2	0	LGGM	GRCh37	1	109466817	109466817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	48	31	.	.	ENST00000406462.2:c.1796A>G	p.Asp599Gly	p.D599G	ENST00000406462		599	gAc/gGc	0	1		UPI000013D4C2	0	NA	ENST00000264126		ENSG00000121957	29501		79	2.585		HGNC	p.D599G		GPSM2		SNV			1				ENST00000264126	protein_coding	getma.org/?cm=var&var=hg19,1,109466817,A,G&fts=all		Pfam_domain:PF02188,PROSITE_profiles:PS50877,hmmpanther:PTHR10098,SMART_domains:SM00390		D/G		G	medium	2292/3032		getma.org/?cm=msa&ty=f&p=GPSM2_HUMAN&rb=574&re=636&var=D599G	deleterious(0.03)	Q5T1N9_HUMAN,B4DIF1_HUMAN,B0QZD0_HUMAN,B0QZC9_HUMAN				GPSM2,missense_variant,p.Asp599Gly,ENST00000406462,;GPSM2,missense_variant,p.Asp599Gly,ENST00000264126,NM_013296.4;GPSM2,missense_variant,p.Asp189Gly,ENST00000441735,;AKNAD1,intron_variant,,ENST00000357393,;							MODERATE	1796/2055	D599G	GPSM2_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000264126		CCDS792.2			1	
STAT3	0	LGGM	GRCh37	17	40481576	40481576	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	51	31	.	.	ENST00000264657.5:c.1229A>C	p.His410Pro	p.H410P	ENST00000264657	NM_139276.2	410	cAc/cCc	0	1	1	UPI0000031047	0	getma.org/pdb.php?prot=STAT3_HUMAN&from=321&to=574&var=H410P	ENST00000264657		ENSG00000168610	11364		82	2.395		HGNC	p.H410P		STAT3		SNV			1				ENST00000264657	protein_coding	getma.org/?cm=var&var=hg19,17,40481576,T,G&fts=all		hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Pfam_domain:PF02864,Gene3D:2.60.40.630,Superfamily_domains:SSF49417		H/P		G	medium	1542/5047		getma.org/?cm=msa&ty=f&p=STAT3_HUMAN&rb=321&re=574&var=H410P	deleterious(0)	G8JLH9_HUMAN			YES	STAT3,missense_variant,p.His410Pro,ENST00000264657,NM_139276.2,NM_003150.3;STAT3,missense_variant,p.His410Pro,ENST00000585517,NM_213662.1;STAT3,missense_variant,p.His410Pro,ENST00000588969,;STAT3,missense_variant,p.His410Pro,ENST00000404395,;STAT3,missense_variant,p.His312Pro,ENST00000389272,;STAT3,upstream_gene_variant,,ENST00000471989,;STAT3,upstream_gene_variant,,ENST00000498330,;STAT3,downstream_gene_variant,,ENST00000478276,;							MODERATE	1229/2313	H410P	STAT3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264657		CCDS32656.1			1	
ROCK1	0	LGGM	GRCh37	18	18534967	18534967	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	102	31	.	.	ENST00000399799.2:c.3630A>G	p.Val1210=	p.V1210=	ENST00000399799	NM_005406.2	1210	gtA/gtG	0	1	1	UPI000006F0A4	0		ENST00000399799		ENSG00000067900	10251		133			HGNC	p.V1210V	rs375729183	ROCK1		SNV	C:0						ENST00000399799	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,PIRSF_domain:PIRSF037568		V	C:0.0001	C		4571/9484							YES	ROCK1,synonymous_variant,p.=,ENST00000399799,NM_005406.2;ROCK1,upstream_gene_variant,,ENST00000578051,;ROCK1,non_coding_transcript_exon_variant,,ENST00000584687,;							LOW	3630/4065		ROCK1_HUMAN			Transcript			.	ENSP00000382697		CCDS11870.2			1	
AHCTF1	0	LGGM	GRCh37	1	247053292	247053292	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	103	32	.	.	ENST00000326225.3:c.2147G>A	p.Arg716Gln	p.R716Q	ENST00000326225	NM_015446.4	716	cGa/cAa	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		135	2.36		HGNC	p.R742Q	rs774477322	AHCTF1		SNV				9.77E-05			ENST00000366508	protein_coding	getma.org/?cm=var&var=hg19,1,247053292,C,T&fts=all		hmmpanther:PTHR21583		R/Q		T	medium	2244/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=601&re=720&var=R707Q	deleterious(0)	C9J5C5_HUMAN			YES	AHCTF1,missense_variant,p.Arg742Gln,ENST00000366508,;AHCTF1,missense_variant,p.Arg716Gln,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Arg707Gln,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;							MODERATE	2147/6828	R707Q	ELYS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355465	8.24E-06	CCDS1629.2			1	
CD1E	0	LGGM	GRCh37	1	158325208	158325208	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	68	33	.	.	ENST00000368167.3:c.474T>A	p.Ser158=	p.S158=	ENST00000368167	NM_030893.3	158	tcT/tcA	0	1	1	UPI000046F8C2	0		ENST00000368167		ENSG00000158488	1638		101			HGNC	p.S158S		CD1E		SNV							ENST00000368167	protein_coding			Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF8,Superfamily_domains:SSF54452		S		A		713/1458				Q13974_HUMAN			YES	CD1E,synonymous_variant,p.=,ENST00000444681,NM_001185114.1;CD1E,synonymous_variant,p.=,ENST00000368160,NM_001042583.2;CD1E,synonymous_variant,p.=,ENST00000368161,NM_001042584.2;CD1E,synonymous_variant,p.=,ENST00000368163,NM_001042585.2;CD1E,synonymous_variant,p.=,ENST00000434258,;CD1E,synonymous_variant,p.=,ENST00000368167,NM_030893.3;CD1E,intron_variant,,ENST00000368166,NM_001185112.1,NM_001042586.2;CD1E,intron_variant,,ENST00000368165,NM_001185107.1;CD1E,intron_variant,,ENST00000368164,NM_001042587.2;CD1E,intron_variant,,ENST00000368156,NM_001185115.1;CD1E,intron_variant,,ENST00000452291,;CD1E,intron_variant,,ENST00000368155,NM_001185108.1;CD1E,intron_variant,,ENST00000368154,NM_001185113.1;CD1E,intron_variant,,ENST00000368157,NM_001185110.1;CD1E,upstream_gene_variant,,ENST00000368162,;CD1E,downstream_gene_variant,,ENST00000464822,;							LOW	474/1167		CD1E_HUMAN			Transcript			.	ENSP00000357149		CCDS41417.1			1	
EIF2AK1	0	LGGM	GRCh37	7	6080562	6080562	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	52	33	.	.	ENST00000199389.6:c.1080A>G	p.Glu360=	p.E360=	ENST00000199389	NM_001134335.1	360	gaA/gaG	0	1	1	UPI0000161BAE	0		ENST00000199389		ENSG00000086232	24921		85			HGNC	p.E360E		EIF2AK1		SNV							ENST00000199389	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF88,hmmpanther:PTHR11042,SMART_domains:SM00220		E		C		1227/4463				Q75MR0_HUMAN			YES	EIF2AK1,synonymous_variant,p.=,ENST00000199389,NM_001134335.1,NM_014413.3;EIF2AK1,synonymous_variant,p.=,ENST00000536084,;ANKRD61,downstream_gene_variant,,ENST00000409061,NM_001271700.1;EIF2AK1,downstream_gene_variant,,ENST00000495565,;EIF2AK1,downstream_gene_variant,,ENST00000474029,;EIF2AK1,downstream_gene_variant,,ENST00000470168,;							LOW	1080/1893		E2AK1_HUMAN			Transcript			.	ENSP00000199389		CCDS5345.1			1	
LAMC2	0	LGGM	GRCh37	1	183195934	183195934	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	81	37	.	.	ENST00000264144.4:c.1168G>C	p.Gly390Arg	p.G390R	ENST00000264144	NM_005562.2	390	Ggg/Cgg	0	1	1	UPI000013D4CA	0	NA	ENST00000264144		ENSG00000058085	6493		118	3.38		HGNC	p.G390R		LAMC2		SNV			1				ENST00000264144	protein_coding	getma.org/?cm=var&var=hg19,1,183195934,G,C&fts=all		Pfam_domain:PF00053,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF79,SMART_domains:SM00180		G/R		C	medium	1233/5147		getma.org/?cm=msa&ty=f&p=LAMC2_HUMAN&rb=376&re=413&var=G390R	deleterious(0)				YES	LAMC2,missense_variant,p.Gly390Arg,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.Gly390Arg,ENST00000493293,NM_018891.2;							MODERATE	1168/3582	G390R	LAMC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264144		CCDS1352.1			1	
ZNF208	0	LGGM	GRCh37	19	22156754	22156754	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	78	37	.	.	ENST00000397126.4:c.1082T>C	p.Val361Ala	p.V361A	ENST00000397126	NM_007153.3	361	gTa/gCa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		115			HGNC	p.V361A	rs751798482	ZNF208		SNV							ENST00000397126	protein_coding			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		V/A		G		1231/3992			tolerated(0.06)				YES	ZNF208,missense_variant,p.Val361Ala,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	1082/3843		ZN208_HUMAN			Transcript		benign(0.017)	.	ENSP00000380315		CCDS54240.1			1	
ADAMTS6	0	LGGM	GRCh37	5	64569180	64569180	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	85	37	.	.	ENST00000381055.3:c.1607A>T	p.Asn536Ile	p.N536I	ENST00000381055	NM_197941.2	536	aAt/aTt	0	1	1	UPI000050D3F1	0	getma.org/pdb.php?prot=ATS6_HUMAN&from=495&to=557&var=N536I	ENST00000381055		ENSG00000049192	222		122	0		HGNC	p.N536I		ADAMTS6		SNV							ENST00000464680	protein_coding	getma.org/?cm=var&var=hg19,5,64569180,T,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27		N/I		A	neutral	2464/7311		getma.org/?cm=msa&ty=f&p=ATS6_HUMAN&rb=495&re=557&var=N536I	tolerated(0.15)	Q5IR90_HUMAN			YES	ADAMTS6,missense_variant,p.Asn536Ile,ENST00000381055,NM_197941.2;ADAMTS6,missense_variant,p.Asn536Ile,ENST00000464680,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;							MODERATE	1607/3354	N536I	ATS6_HUMAN			Transcript		benign(0.001)	.	ENSP00000370443		CCDS3983.2			1	
ITSN2	0	LGGM	GRCh37	2	24522916	24522916	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081048	H081048N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	103	38	.	.	ENST00000355123.4:c.1206A>G	p.Glu402=	p.E402=	ENST00000355123	NM_006277.2	402	gaA/gaG	0	1	1	UPI000013D415	0		ENST00000355123		ENSG00000198399	6184		141			HGNC	p.E402E		ITSN2		SNV							ENST00000355123	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29,Low_complexity_(Seg):seg		E		C		1650/6300				Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN			YES	ITSN2,synonymous_variant,p.=,ENST00000355123,NM_006277.2;ITSN2,synonymous_variant,p.=,ENST00000361999,NM_019595.3;ITSN2,synonymous_variant,p.=,ENST00000406921,NM_147152.2;ITSN2,synonymous_variant,p.=,ENST00000412011,;ITSN2,upstream_gene_variant,,ENST00000469848,;							LOW	1206/5094		ITSN2_HUMAN			Transcript			.	ENSP00000347244		CCDS1710.2			1	
GPR52	0	LGGM	GRCh37	1	174417646	174417646	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081048	H081048N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	78	44	.	.	ENST00000367685.2:c.397G>A	p.Ala133Thr	p.A133T	ENST00000367685	NM_005684.4	133	Gct/Act	0	1	1	UPI0000153A3C	0	getma.org/pdb.php?prot=GPR52_HUMAN&from=57&to=317&var=A133T	ENST00000367685		ENSG00000203737	4508		122	0.755		HGNC	p.A133T		GPR52		SNV							ENST00000367685	protein_coding	getma.org/?cm=var&var=hg19,1,174417646,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/T		A	neutral	435/1472		getma.org/?cm=msa&ty=f&p=GPR52_HUMAN&rb=57&re=317&var=A133T	tolerated(0.09)	F2YGU0_HUMAN			YES	GPR52,missense_variant,p.Ala133Thr,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,;							MODERATE	397/1086	A133T	GPR52_HUMAN			Transcript		benign(0.189)	.	ENSP00000356658		CCDS30941.1			1	
RNF180	0	LGGM	GRCh37	5	63621091	63621091	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	108	48	.	.	ENST00000389100.4:c.1306C>G	p.Leu436Val	p.L436V	ENST00000389100	NM_001113561.1	436	Ctg/Gtg	0	1	1	UPI0000141201	0	NA	ENST00000389100		ENSG00000164197	27752		156	2.475		HGNC	p.L436V		RNF180		SNV							ENST00000389100	protein_coding	getma.org/?cm=var&var=hg19,5,63621091,C,G&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13920,PROSITE_profiles:PS50089,hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF5,SMART_domains:SM00184,Superfamily_domains:SSF57850		L/V		G	medium	1378/4906		getma.org/?cm=msa&ty=f&p=RN180_HUMAN&rb=428&re=475&var=L436V	deleterious(0)	D6RE88_HUMAN			YES	RNF180,missense_variant,p.Leu436Val,ENST00000389100,NM_001113561.1;							MODERATE	1306/1779	L436V	RN180_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000373752		CCDS47219.1			1	
SETD5	0	LGGM	GRCh37	3	9506107	9506107	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	125	49	.	.	ENST00000402198.1:c.2477-2A>C		p.X826_splice	ENST00000402198	NM_001080517.1			0	1	1	UPI0000411FEE	0		ENST00000402198		ENSG00000168137	25566		174			HGNC	-		SETD5		SNV			1				ENST00000402466	protein_coding							C		-/6827				C9JLM1_HUMAN,C9JLA7_HUMAN,A8K0G4_HUMAN			YES	SETD5,splice_acceptor_variant,,ENST00000402466,;SETD5,splice_acceptor_variant,,ENST00000402198,NM_001080517.1;SETD5,splice_acceptor_variant,,ENST00000406341,;SETD5,splice_acceptor_variant,,ENST00000407969,;SETD5,splice_acceptor_variant,,ENST00000302463,;SETD5,splice_acceptor_variant,,ENST00000399686,;SETD5,splice_acceptor_variant,,ENST00000421188,;SETD5,splice_acceptor_variant,,ENST00000488236,;SETD5,splice_acceptor_variant,,ENST00000478961,;SETD5,splice_acceptor_variant,,ENST00000476740,;SETD5,splice_acceptor_variant,,ENST00000493918,;SETD5,splice_acceptor_variant,,ENST00000466242,;SETD5,splice_acceptor_variant,,ENST00000443339,;SETD5,splice_acceptor_variant,,ENST00000413704,;							HIGH	2477/4329		SETD5_HUMAN			Transcript			.	ENSP00000385852		CCDS46741.1			1	
ZNF780B	0	LGGM	GRCh37	19	40541667	40541667	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	114	49	.	.	ENST00000434248.1:c.1099G>A	p.Gly367Arg	p.G367R	ENST00000434248	NM_001005851.2	367	Ggg/Agg	0	1	1	UPI000007137F	0	getma.org/pdb.php?prot=Z780B_HUMAN&from=347&to=371&var=G367R	ENST00000434248		ENSG00000128000	33109	0.000173	163	2.155		HGNC	p.G367R	rs373813793	ZNF780B		SNV	T:0						ENST00000434248	protein_coding	getma.org/?cm=var&var=hg19,19,40541667,C,T&fts=all	T:0	Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF203,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/R	T:0.0001	T	medium	1165/8665	1.50E-05	getma.org/?cm=msa&ty=f&p=Z780B_HUMAN&rb=327&re=391&var=G367R	deleterious(0.02)	M0R0W9_HUMAN,C9JTJ1_HUMAN	T:0.0029	T:0	YES	ZNF780B,missense_variant,p.Gly367Arg,ENST00000434248,NM_001005851.2;ZNF780B,missense_variant,p.Gly219Arg,ENST00000221355,;ZNF780B,downstream_gene_variant,,ENST00000598845,;ZNF780B,downstream_gene_variant,,ENST00000595995,;		T:0.0004					MODERATE	1099/2502	G367R	Z780B_HUMAN		T:0	Transcript		probably_damaging(0.996)	.	ENSP00000391641	2.47E-05	CCDS46077.1		T:0	1	
HSP90AB1	0	LGGM	GRCh37	6	44216427	44216427	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	149	50	.	.	ENST00000371554.1:c.61A>G	p.Ile21Val	p.I21V	ENST00000371554		21	Att/Gtt	0	1		UPI00001411EF	0	getma.org/pdb.php?prot=HS90B_HUMAN&from=1&to=34&var=I21V	ENST00000353801		ENSG00000096384	5258		199	1.145		HGNC	p.I21V		HSP90AB1		SNV							ENST00000441736	protein_coding	getma.org/?cm=var&var=hg19,6,44216427,A,G&fts=all		Prints_domain:PR00775,Superfamily_domains:SSF55874,PIRSF_domain:PIRSF002583,Gene3D:3.30.565.10,hmmpanther:PTHR11528,HAMAP:MF_00505		I/V		G	low	183/2582		getma.org/?cm=msa&ty=f&p=HS90B_HUMAN&rb=1&re=34&var=I21V	deleterious(0.04)	A8K3W9_HUMAN				HSP90AB1,missense_variant,p.Ile21Val,ENST00000371554,;HSP90AB1,missense_variant,p.Ile21Val,ENST00000353801,NM_001271969.1;HSP90AB1,missense_variant,p.Ile21Val,ENST00000371646,NM_007355.3,NM_001271971.1,NM_001271972.1,NM_001271970.1;							MODERATE	61/2175	I21V	HS90B_HUMAN			Transcript		benign(0.071)	.	ENSP00000325875		CCDS4909.1			1	
HSP90AB1	0	LGGM	GRCh37	6	44216423	44216423	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081048	H081048N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	143	51	.	.	ENST00000371554.1:c.57A>G	p.Ala19=	p.A19=	ENST00000371554		19	gcA/gcG	0	1		UPI00001411EF	0		ENST00000353801		ENSG00000096384	5258		194			HGNC	p.A19A		HSP90AB1		SNV							ENST00000441736	protein_coding			Prints_domain:PR00775,Superfamily_domains:SSF55874,PIRSF_domain:PIRSF002583,Gene3D:3.30.565.10,hmmpanther:PTHR11528,HAMAP:MF_00505		A		G		179/2582				A8K3W9_HUMAN				HSP90AB1,synonymous_variant,p.=,ENST00000371554,;HSP90AB1,synonymous_variant,p.=,ENST00000353801,NM_001271969.1;HSP90AB1,synonymous_variant,p.=,ENST00000371646,NM_007355.3,NM_001271971.1,NM_001271972.1,NM_001271970.1;							LOW	57/2175		HS90B_HUMAN			Transcript			.	ENSP00000325875		CCDS4909.1			1	
CELF1	0	LGGM	GRCh37	11	47510389	47510389	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081048	H081048N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081048N.bam, H081048T.bam	Illumina HiSeq	102	51	.	.	ENST00000532048.1:c.259G>A	p.Gly87Arg	p.G87R	ENST00000532048	NM_001172639.1	87	Ggg/Agg	0	1		UPI00001286E2	0	getma.org/pdb.php?prot=CELF1_HUMAN&from=18&to=88&var=G60R	ENST00000358597		ENSG00000149187	2549		153	3.16		HGNC	p.G60R		CELF1		SNV							ENST00000395292	protein_coding	getma.org/?cm=var&var=hg19,11,47510389,C,T&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24622:SF179,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		G/R		T	medium	178/2108		getma.org/?cm=msa&ty=f&p=CELF1_HUMAN&rb=18&re=88&var=G60R	deleterious(0)	F5H4Y5_HUMAN,E9PSH0_HUMAN,E9PQK4_HUMAN,E9PKA1_HUMAN				CELF1,missense_variant,p.Gly60Arg,ENST00000395290,NM_001172640.1,NM_001025596.2;CELF1,missense_variant,p.Gly87Arg,ENST00000531165,;CELF1,missense_variant,p.Gly87Arg,ENST00000532048,NM_001172639.1;CELF1,missense_variant,p.Gly60Arg,ENST00000395292,NM_198700.2;CELF1,missense_variant,p.Gly60Arg,ENST00000310513,NM_006560.3;CELF1,missense_variant,p.Gly60Arg,ENST00000358597,;CELF1,missense_variant,p.Gly60Arg,ENST00000361904,;CELF1,missense_variant,p.Gly60Arg,ENST00000525841,;CELF1,missense_variant,p.Gly60Arg,ENST00000530151,;CELF1,missense_variant,p.Gly60Arg,ENST00000543178,;CELF1,missense_variant,p.Gly87Arg,ENST00000535982,;CELF1,missense_variant,p.Gly87Arg,ENST00000528434,;CELF1,downstream_gene_variant,,ENST00000528538,;CELF1,downstream_gene_variant,,ENST00000526277,;CELF1,downstream_gene_variant,,ENST00000526419,;AC090559.1,upstream_gene_variant,,ENST00000578625,;CELF1,upstream_gene_variant,,ENST00000422993,;							MODERATE	178/1461	G60R	CELF1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000351409		CCDS31482.1			1	
CTD-3193O13.9	0	LGGM	GRCh37	19	7935795	7935863	+	splice_donor_variant,non_coding_transcript_exon_variant,intron_variant	Splice_Site	DEL	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	-	novel	by Submitter	H081077	H081077N.bam	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	6	4	.	.	ENST00000597156.1:n.402+31_432del		p.X134_splice	ENST00000597156				0	1	1	UPI0001DA930F	0		ENST00000539422		ENSG00000183248		0.0192	10			Clone_based_vega_gene	p.40_49del		CTD-3193O13.9	0.0303	deletion				0.0121			ENST00000327607	protein_coding					PLENLPSLAPPPLQTASAPLTTPH/H		-		2430-2498/4518	0.0353			F5H1R7_HUMAN			YES	CTD-3193O13.9,inframe_deletion,p.Pro756_Pro778del,ENST00000539422,NM_001190467.1;CTD-3193O13.9,inframe_deletion,p.Pro171_Pro193del,ENST00000599142,;CTD-3193O13.11,splice_donor_variant,,ENST00000597156,;CTD-3193O13.9,intron_variant,,ENST00000593356,;	0.0484						MODERATE	2267-2335/4041					Transcript			common_variant	ENSP00000438970	0.011				1	
ARHGAP30	0	LGGM	GRCh37	1	161039384	161039384	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	33	3	.	.	ENST00000368013.3:c.31G>A	p.Gly11Ser	p.G11S	ENST00000368013	NM_181720.2	11	Ggc/Agc	0	1	1	UPI0000160677	0	NA	ENST00000368013		ENSG00000186517	27414		36	1.83		HGNC	p.G11S		ARHGAP30		SNV							ENST00000368013	protein_coding	getma.org/?cm=var&var=hg19,1,161039384,C,T&fts=all		hmmpanther:PTHR15729		G/S		T	low	352/4394		getma.org/?cm=msa&ty=f&p=RHG30_HUMAN&rb=1&re=33&var=G11S	deleterious(0)				YES	ARHGAP30,missense_variant,p.Gly11Ser,ENST00000368013,NM_181720.2,NM_001025598.1;ARHGAP30,missense_variant,p.Gly11Ser,ENST00000368016,;ARHGAP30,intron_variant,,ENST00000368015,NM_001287602.1;PVRL4,downstream_gene_variant,,ENST00000368012,NM_030916.2;PVRL4,downstream_gene_variant,,ENST00000453926,;AL591806.1,downstream_gene_variant,,ENST00000600454,;PVRL4,downstream_gene_variant,,ENST00000486694,;ARHGAP30,missense_variant,p.Gly11Ser,ENST00000490279,;ARHGAP30,missense_variant,p.Gly11Ser,ENST00000368018,;ARHGAP30,missense_variant,p.Gly11Ser,ENST00000471492,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;							MODERATE	31/3306	G11S	RHG30_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000356992		CCDS30918.1			1	
MED13	0	LGGM	GRCh37	17	60032761	60032761	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	37	3	.	.	ENST00000397786.2:c.5950G>T	p.Ala1984Ser	p.A1984S	ENST00000397786	NM_005121.2	1984	Gct/Tct	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474		40	1.5		HGNC	p.A1984S		MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60032761,C,A&fts=all		Pfam_domain:PF06333,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		A/S		A	low	6027/10465		getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=1640&re=2165&var=A1984S	tolerated(0.55)				YES	MED13,missense_variant,p.Ala1984Ser,ENST00000397786,NM_005121.2;MED13,non_coding_transcript_exon_variant,,ENST00000582786,;							MODERATE	5950/6525	A1984S	MED13_HUMAN			Transcript		possibly_damaging(0.457)	.	ENSP00000380888		CCDS42366.1			1	
CELSR3	0	LGGM	GRCh37	3	48697944	48697944	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	26	4	.	.	ENST00000164024.4:c.2124C>T	p.Val708=	p.V708=	ENST00000164024	NM_001407.2	708	gtC/gtT	0	1	1	UPI00001AE5A6	0		ENST00000164024		ENSG00000008300	3230		30			HGNC	p.V708V	rs759511817	CELSR3		SNV				9.64E-05			ENST00000164024	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		A		2405/11956				B4DSQ9_HUMAN			YES	CELSR3,synonymous_variant,p.=,ENST00000544264,;CELSR3,synonymous_variant,p.=,ENST00000164024,NM_001407.2;NCKIPSD,downstream_gene_variant,,ENST00000341520,;RP11-148G20.1,upstream_gene_variant,,ENST00000421275,;							LOW	2124/9939		CELR3_HUMAN			Transcript			.	ENSP00000164024	8.24E-06	CCDS2775.1			1	
SLC9C1	0	LGGM	GRCh37	3	111950211	111950211	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	18	4	.	.	ENST00000305815.5:c.1569A>G	p.Gln523=	p.Q523=	ENST00000305815	NM_183061.1	523	caA/caG	0	1	1	UPI00002372C5	0		ENST00000305815		ENSG00000172139	31401		22			HGNC	p.Q523Q		SLC9C1		SNV							ENST00000305815	protein_coding			hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87		Q		C		1822/4172				C9J3M6_HUMAN			YES	SLC9C1,synonymous_variant,p.=,ENST00000305815,NM_183061.1;SLC9C1,synonymous_variant,p.=,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;							LOW	1569/3534		SL9C1_HUMAN			Transcript			.	ENSP00000306627		CCDS33817.1			1	
MVK	0	LGGM	GRCh37	12	110034365	110034365	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	13	5	.	.	ENST00000228510.3:c.1174G>A	p.Ala392Thr	p.A392T	ENST00000228510	NM_001114185.1	392	Gcc/Acc	0	1	1	UPI000012DE5B	0	getma.org/pdb.php?prot=KIME_HUMAN&from=367&to=396&var=A392T	ENST00000228510		ENSG00000110921	7530		18	0.695		HGNC	p.A198T		MVK		SNV			1				ENST00000541384	protein_coding	getma.org/?cm=var&var=hg19,12,110034365,G,A&fts=all		hmmpanther:PTHR10457,hmmpanther:PTHR10457:SF4		A/T		A	neutral	1250/1952		getma.org/?cm=msa&ty=f&p=KIME_HUMAN&rb=367&re=396&var=A392T	deleterious_low_confidence(0.01)	F5H092_HUMAN,F5GXC0_HUMAN,B7Z1C2_HUMAN,B2RDU6_HUMAN			YES	MVK,missense_variant,p.Ala392Thr,ENST00000228510,NM_001114185.1,NM_000431.2;MVK,missense_variant,p.Ala340Thr,ENST00000392727,;MVK,missense_variant,p.Ala340Thr,ENST00000539575,;MVK,missense_variant,p.Ala198Thr,ENST00000541384,;MVK,missense_variant,p.Ala111Thr,ENST00000539696,;MVK,3_prime_UTR_variant,,ENST00000447878,;MVK,3_prime_UTR_variant,,ENST00000537237,;MVK,non_coding_transcript_exon_variant,,ENST00000540353,;							MODERATE	1174/1191	A392T	KIME_HUMAN			Transcript		benign(0.179)	.	ENSP00000228510		CCDS9132.1			1	
PEAK1	0	LGGM	GRCh37	15	77451015	77451015	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	9	5	.	.	ENST00000560626.2:c.3161A>G	p.Glu1054Gly	p.E1054G	ENST00000560626		1054	gAg/gGg	0	1		UPI00002378D0	0	NA	ENST00000312493		ENSG00000173517	29431		14	-0.345		HGNC	p.E1054G		PEAK1		SNV							ENST00000312493	protein_coding	getma.org/?cm=var&var=hg19,15,77451015,T,C&fts=all		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5		E/G		C	neutral	3440/11547		getma.org/?cm=msa&ty=f&p=PEAK1_HUMAN&rb=101&re=1105&var=E1054G	tolerated(0.14)	H3BUZ5_HUMAN,H3BUE6_HUMAN				PEAK1,missense_variant,p.Glu1054Gly,ENST00000560626,;PEAK1,missense_variant,p.Glu1054Gly,ENST00000312493,NM_024776.3;PEAK1,non_coding_transcript_exon_variant,,ENST00000560854,;							MODERATE	3161/5241	E1054G	PEAK1_HUMAN			Transcript		benign(0.009)	.	ENSP00000309230		CCDS42062.1			1	
C10orf88	0	LGGM	GRCh37	10	124711469	124711469	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	6	6	.	.	ENST00000481909.1:c.441+1G>A		p.X147_splice	ENST00000481909	NM_024942.3			0	1	1	UPI000006CF9E	0		ENST00000481909		ENSG00000119965	25822		12			HGNC	-		C10orf88		SNV							ENST00000481909	protein_coding							T		-/2482							YES	C10orf88,splice_donor_variant,,ENST00000481909,NM_024942.3;C10orf88,splice_donor_variant,,ENST00000368891,;C10orf88,splice_donor_variant,,ENST00000470158,;PSTK,upstream_gene_variant,,ENST00000465232,;							HIGH	441/1338		CJ088_HUMAN			Transcript			.	ENSP00000419126		CCDS7632.1			1	
CHGB	0	LGGM	GRCh37	20	5896986	5896986	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	17	6	.	.	ENST00000378961.4:c.64C>G	p.Pro22Ala	p.P22A	ENST00000378961	NM_001819.2	22	Cca/Gca	0	1	1	UPI000013C63D	0	NA	ENST00000378961		ENSG00000089199	1930		23	2.045		HGNC	p.P2A		CHGB		SNV							ENST00000455042	protein_coding	getma.org/?cm=var&var=hg19,20,5896986,C,G&fts=all		hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583		P/A		G	medium	268/2550		getma.org/?cm=msa&ty=f&p=SCG1_HUMAN&rb=1&re=55&var=P22A	deleterious(0)				YES	CHGB,missense_variant,p.Pro22Ala,ENST00000378961,NM_001819.2;CHGB,missense_variant,p.Pro2Ala,ENST00000455042,;CHGB,non_coding_transcript_exon_variant,,ENST00000488832,;							MODERATE	64/2034	P22A	SCG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368244		CCDS13092.1			1	
HOXA1	0	LGGM	GRCh37	7	27134194	27134194	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	16	6	.	.	ENST00000343060.4:c.873T>A	p.Gly291=	p.G291=	ENST00000343060	NM_005522.4	291	ggT/ggA	0	1	1	UPI000013C80E	0		ENST00000343060		ENSG00000105991	5099		22			HGNC	p.G291G		HOXA1		SNV			1				ENST00000343060	protein_coding			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF158,SMART_domains:SM00389		G		T		935/2517							YES	HOXA1,synonymous_variant,p.=,ENST00000343060,NM_005522.4;HOXA1,3_prime_UTR_variant,,ENST00000355633,NM_153620.2;HOTAIRM1,upstream_gene_variant,,ENST00000428939,;HOTAIRM1,upstream_gene_variant,,ENST00000429611,;HOTAIRM1,upstream_gene_variant,,ENST00000434063,;HOTAIRM1,upstream_gene_variant,,ENST00000425358,;HOTAIRM1,upstream_gene_variant,,ENST00000495032,;							LOW	873/1008		HXA1_HUMAN			Transcript			.	ENSP00000343246		CCDS5401.1			1	
EML6	0	LGGM	GRCh37	2	55194152	55194152	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	13	7	.	.	ENST00000356458.6:c.5510A>G	p.Tyr1837Cys	p.Y1837C	ENST00000356458	NM_001039753.2	1837	tAt/tGt	0	1	1	UPI00006C0432	0	getma.org/pdb.php?prot=EMAL6_HUMAN&from=1716&to=1915&var=Y1837C	ENST00000356458		ENSG00000214595	35412		20	2.86		HGNC	p.Y1837C		EML6		SNV							ENST00000356458	protein_coding	getma.org/?cm=var&var=hg19,2,55194152,A,G&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8		Y/C		G	medium	6030/8320		getma.org/?cm=msa&ty=f&p=EMAL6_HUMAN&rb=1716&re=1915&var=Y1837C	tolerated(0.07)				YES	EML6,missense_variant,p.Tyr1837Cys,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000490828,;EML6,intron_variant,,ENST00000472965,;EML6,upstream_gene_variant,,ENST00000488611,;EML6,upstream_gene_variant,,ENST00000466608,;							MODERATE	5510/5877	Y1837C	EMAL6_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000348842		CCDS46286.1			1	
POLH	0	LGGM	GRCh37	6	43555197	43555197	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	29	7	.	.	ENST00000372236.4:c.461C>T	p.Pro154Leu	p.P154L	ENST00000372236	NM_006502.2	154	cCt/cTt	0	1	1	UPI000006F8FD	0	getma.org/pdb.php?prot=POLH_HUMAN&from=12&to=228&var=P154L	ENST00000372236		ENSG00000170734	9181		36	1.385		HGNC	p.P154L		POLH		SNV			1				ENST00000372226	protein_coding	getma.org/?cm=var&var=hg19,6,43555197,C,T&fts=all		PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,Gene3D:3.30.70.270,Pfam_domain:PF00817,PIRSF_domain:PIRSF036603,Superfamily_domains:SSF56672		P/L		T	low	756/3540		getma.org/?cm=msa&ty=f&p=POLH_HUMAN&rb=12&re=228&var=P154L	tolerated(0.5)	Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN			YES	POLH,missense_variant,p.Pro154Leu,ENST00000372236,NM_006502.2;POLH,missense_variant,p.Pro154Leu,ENST00000372226,;POLH,missense_variant,p.Pro92Leu,ENST00000535400,;POLH,downstream_gene_variant,,ENST00000443535,;RP3-337H4.8,downstream_gene_variant,,ENST00000417591,;							MODERATE	461/2142	P154L	POLH_HUMAN			Transcript		benign(0.001)	.	ENSP00000361310		CCDS4902.1			1	
ZMIZ1	0	LGGM	GRCh37	10	81067317	81067317	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	20	7	.	.	ENST00000334512.5:c.2824A>C	p.Met942Leu	p.M942L	ENST00000334512	NM_020338.3	942	Atg/Ctg	0	1	1	UPI0000161744	0	NA	ENST00000334512		ENSG00000108175	16493		27	0.155		HGNC	p.M942L		ZMIZ1		SNV							ENST00000334512	protein_coding	getma.org/?cm=var&var=hg19,10,81067317,A,C&fts=all		hmmpanther:PTHR10782:SF7,hmmpanther:PTHR10782		M/L		C	neutral	3396/7546		getma.org/?cm=msa&ty=f&p=ZMIZ1_HUMAN&rb=788&re=987&var=M942L		A0PJD4_HUMAN			YES	ZMIZ1,missense_variant,p.Met942Leu,ENST00000334512,NM_020338.3;ZMIZ1,missense_variant,p.Met95Leu,ENST00000446377,;							MODERATE	2824/3204	M942L	ZMIZ1_HUMAN			Transcript		benign(0.001)	.	ENSP00000334474		CCDS7357.1			1	
POLK	0	LGGM	GRCh37	5	74892730	74892730	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	48	7	.	.	ENST00000241436.4:c.2212A>G	p.Ile738Val	p.I738V	ENST00000241436	NM_016218.2	738	Att/Gtt	0	1	1	UPI0000073EF6	0	NA	ENST00000241436		ENSG00000122008	9183		55	0.205		HGNC	p.I540V		POLK		SNV							ENST00000352007	protein_coding	getma.org/?cm=var&var=hg19,5,74892730,A,G&fts=all				I/V		G	neutral	2384/5911		getma.org/?cm=msa&ty=f&p=POLK_HUMAN&rb=711&re=870&var=I738V	tolerated(0.86)	D6RDX9_HUMAN			YES	POLK,missense_variant,p.Ile738Val,ENST00000241436,NM_016218.2;POLK,missense_variant,p.Ile540Val,ENST00000352007,;POLK,missense_variant,p.Ile648Val,ENST00000380481,;POLK,missense_variant,p.Ile540Val,ENST00000508526,;POLK,intron_variant,,ENST00000504026,;CTC-366B18.2,downstream_gene_variant,,ENST00000511329,;POLK,non_coding_transcript_exon_variant,,ENST00000506928,;POLK,3_prime_UTR_variant,,ENST00000514141,;POLK,3_prime_UTR_variant,,ENST00000505975,;POLK,3_prime_UTR_variant,,ENST00000510815,;POLK,3_prime_UTR_variant,,ENST00000503479,;POLK,3_prime_UTR_variant,,ENST00000509126,;POLK,intron_variant,,ENST00000511527,;POLK,upstream_gene_variant,,ENST00000502567,;POLK,upstream_gene_variant,,ENST00000505069,;							MODERATE	2212/2613	I738V	POLK_HUMAN			Transcript		benign(0)	.	ENSP00000241436		CCDS4030.1			1	
RNF41	0	LGGM	GRCh37	12	56600583	56600583	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	6	8	.	.	ENST00000345093.4:c.603-1G>A		p.X201_splice	ENST00000345093	NM_005785.3			0	1	1	UPI000006F47F	0		ENST00000345093		ENSG00000181852	18401		14			HGNC	-		RNF41		SNV							ENST00000345093	protein_coding							T		-/3270				F8VVY2_HUMAN,F8VSP7_HUMAN,F8VSB6_HUMAN,F8VNZ6_HUMAN,B4E353_HUMAN			YES	RNF41,splice_acceptor_variant,,ENST00000345093,NM_005785.3,NM_194359.2;RNF41,splice_acceptor_variant,,ENST00000394013,NM_194358.2;RNF41,splice_acceptor_variant,,ENST00000552656,;RNF41,splice_acceptor_variant,,ENST00000551711,;RNF41,downstream_gene_variant,,ENST00000549038,NM_001242826.1;RNF41,downstream_gene_variant,,ENST00000552244,;RNF41,splice_acceptor_variant,,ENST00000547967,;RNF41,splice_acceptor_variant,,ENST00000548120,;RNF41,downstream_gene_variant,,ENST00000548225,;RNF41,downstream_gene_variant,,ENST00000549119,;RNF41,downstream_gene_variant,,ENST00000550379,;							HIGH	603/954		RNF41_HUMAN			Transcript			.	ENSP00000342755		CCDS8909.1			1	
TIAM2	0	LGGM	GRCh37	6	155577856	155577856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	16	8	.	.	ENST00000461783.3:c.4707C>A	p.Ser1569Arg	p.S1569R	ENST00000461783		1569	agC/agA	0	1		UPI00004DF8BE	0	NA	ENST00000318981		ENSG00000146426	11806		24	1.955		HGNC	p.S913R		TIAM2		SNV							ENST00000528391	protein_coding	getma.org/?cm=var&var=hg19,6,155577856,C,A&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		S/R		A	medium	4915/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1493&re=1692&var=S1569R	deleterious(0)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Ser1569Arg,ENST00000461783,;TIAM2,missense_variant,p.Ser1598Arg,ENST00000456144,;TIAM2,missense_variant,p.Ser945Arg,ENST00000367174,;TIAM2,missense_variant,p.Ser1569Arg,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Ser1593Arg,ENST00000360366,;TIAM2,missense_variant,p.Ser1598Arg,ENST00000529824,;TIAM2,missense_variant,p.Ser913Arg,ENST00000528391,;TIAM2,missense_variant,p.Ser881Arg,ENST00000456877,;TIAM2,missense_variant,p.Ser494Arg,ENST00000275246,NM_001010927.2;TIAM2,downstream_gene_variant,,ENST00000528535,;TFB1M,downstream_gene_variant,,ENST00000367166,NM_016020.3;RP11-477D19.2,non_coding_transcript_exon_variant,,ENST00000435295,;TFB1M,downstream_gene_variant,,ENST00000468889,;TFB1M,downstream_gene_variant,,ENST00000489874,;TFB1M,downstream_gene_variant,,ENST00000495806,;TFB1M,downstream_gene_variant,,ENST00000470239,;TIAM2,downstream_gene_variant,,ENST00000537845,;							MODERATE	4707/5106	S1569R	TIAM2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000327315		CCDS34558.1			1	
TIAM2	0	LGGM	GRCh37	6	155577855	155577855	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	16	8	.	.	ENST00000461783.3:c.4706G>A	p.Ser1569Asn	p.S1569N	ENST00000461783		1569	aGc/aAc	0	1		UPI00004DF8BE	0	NA	ENST00000318981		ENSG00000146426	11806		24	1.955		HGNC	p.S913N		TIAM2		SNV							ENST00000528391	protein_coding	getma.org/?cm=var&var=hg19,6,155577855,G,A&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		S/N		A	medium	4914/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1493&re=1692&var=S1569N	deleterious(0)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Ser1569Asn,ENST00000461783,;TIAM2,missense_variant,p.Ser1598Asn,ENST00000456144,;TIAM2,missense_variant,p.Ser945Asn,ENST00000367174,;TIAM2,missense_variant,p.Ser1569Asn,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Ser1593Asn,ENST00000360366,;TIAM2,missense_variant,p.Ser1598Asn,ENST00000529824,;TIAM2,missense_variant,p.Ser913Asn,ENST00000528391,;TIAM2,missense_variant,p.Ser881Asn,ENST00000456877,;TIAM2,missense_variant,p.Ser494Asn,ENST00000275246,NM_001010927.2;TIAM2,downstream_gene_variant,,ENST00000528535,;TFB1M,downstream_gene_variant,,ENST00000367166,NM_016020.3;RP11-477D19.2,non_coding_transcript_exon_variant,,ENST00000435295,;TFB1M,downstream_gene_variant,,ENST00000468889,;TFB1M,downstream_gene_variant,,ENST00000489874,;TFB1M,downstream_gene_variant,,ENST00000495806,;TFB1M,downstream_gene_variant,,ENST00000470239,;TIAM2,downstream_gene_variant,,ENST00000537845,;							MODERATE	4706/5106	S1569N	TIAM2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000327315		CCDS34558.1			1	
MYO18A	0	LGGM	GRCh37	17	27446418	27446418	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	6	8	.	.	ENST00000527372.1:c.1764C>T	p.Arg588=	p.R588=	ENST00000527372	NM_078471.3	588	cgC/cgT	0	1	1	UPI0000167F32	0		ENST00000527372		ENSG00000196535	31104		14			HGNC	p.R588R		MYO18A		SNV							ENST00000531253	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,PROSITE_profiles:PS51456,PROSITE_profiles:PS50163		R		A		1945/7597							YES	MYO18A,synonymous_variant,p.=,ENST00000527372,NM_078471.3;MYO18A,synonymous_variant,p.=,ENST00000354329,;MYO18A,synonymous_variant,p.=,ENST00000533112,;MYO18A,synonymous_variant,p.=,ENST00000531253,NM_203318.1;MYO18A,downstream_gene_variant,,ENST00000528564,;MYO18A,downstream_gene_variant,,ENST00000590242,;MYO18A,downstream_gene_variant,,ENST00000533420,;MYO18A,downstream_gene_variant,,ENST00000531267,;MYO18A,downstream_gene_variant,,ENST00000585573,;MYO18A,missense_variant,p.Ala33Val,ENST00000588791,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,downstream_gene_variant,,ENST00000528322,;							LOW	1764/6165		MY18A_HUMAN			Transcript			.	ENSP00000437073		CCDS45642.1			1	
NYNRIN	0	LGGM	GRCh37	14	24885091	24885091	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	17	8	.	.	ENST00000382554.3:c.4136A>G	p.Asn1379Ser	p.N1379S	ENST00000382554	NM_025081.2	1379	aAc/aGc	0	1	1	UPI0000251E63	0	NA	ENST00000382554		ENSG00000205978	20165	0.000259	25	0.205		HGNC	p.N1379S	rs758950621	NYNRIN		SNV							ENST00000382554	protein_coding	getma.org/?cm=var&var=hg19,14,24885091,A,G&fts=all		Gene3D:3.30.420.10,hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2,Superfamily_domains:SSF53098		N/S		G	neutral	4454/7857		getma.org/?cm=msa&ty=f&p=NYNRI_HUMAN&rb=1343&re=1542&var=N1379S	tolerated_low_confidence(0.33)				YES	NYNRIN,missense_variant,p.Asn1379Ser,ENST00000382554,NM_025081.2;NYNRIN,downstream_gene_variant,,ENST00000554505,;							MODERATE	4136/5697	N1379S	NYNRI_HUMAN			Transcript		benign(0.015)	.	ENSP00000371994	2.48E-05	CCDS45090.1			1	
SLC6A2	0	LGGM	GRCh37	16	55725913	55725913	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	32	9	.	.	ENST00000219833.8:c.867T>A	p.Asn289Lys	p.N289K	ENST00000219833	NM_001172504.1	289	aaT/aaA	0	1		UPI000013548D	0	getma.org/pdb.php?prot=SC6A2_HUMAN&from=56&to=580&var=N289K	ENST00000379906		ENSG00000103546	11048		41	0.225		HGNC	p.N289K	rs567119800	SLC6A2		SNV			1				ENST00000219833	protein_coding	getma.org/?cm=var&var=hg19,16,55725913,T,A&fts=all	A:0	PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF37,Pfam_domain:PF00209,Superfamily_domains:0053687		N/K		A	neutral	1122/3551		getma.org/?cm=msa&ty=f&p=SC6A2_HUMAN&rb=56&re=580&var=N289K	tolerated(0.43)	Q9UQ04_HUMAN,H3BMY5_HUMAN	A:0	A:0.001		SLC6A2,missense_variant,p.Asn289Lys,ENST00000379906,NM_001043.3;SLC6A2,missense_variant,p.Asn289Lys,ENST00000414754,;SLC6A2,missense_variant,p.Asn184Lys,ENST00000567238,NM_001172502.1;SLC6A2,missense_variant,p.Asn289Lys,ENST00000219833,NM_001172504.1;SLC6A2,missense_variant,p.Asn289Lys,ENST00000568943,NM_001172501.1;SLC6A2,missense_variant,p.Asn289Lys,ENST00000561820,;SLC6A2,intron_variant,,ENST00000566163,;SLC6A2,intron_variant,,ENST00000568529,;	0.000231	A:0.0002					MODERATE	867/1854	N289K	SC6A2_HUMAN		A:0	Transcript		benign(0.007)	.	ENSP00000369237	1.65E-05	CCDS10754.1		A:0	1	
CARS	0	LGGM	GRCh37	11	3037045	3037045	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	15	9	.	.	ENST00000380525.4:c.1952G>T	p.Gly651Val	p.G651V	ENST00000380525	NM_001194997.1	651	gGa/gTa	0	1		UPI0000136359	0	NA	ENST00000397111		ENSG00000110619	1493		24	3.535		HGNC	p.G651V		CARS		SNV			1				ENST00000380525	protein_coding	getma.org/?cm=var&var=hg19,11,3037045,C,A&fts=all		Superfamily_domains:SSF47323,hmmpanther:PTHR10890:SF3,TIGRFAM_domain:TIGR00435,hmmpanther:PTHR10890,HAMAP:MF_00041		G/V		A	high	1949/2685		getma.org/?cm=msa&ty=f&p=SYCC_HUMAN&rb=455&re=654&var=G568V	deleterious(0)					CARS,missense_variant,p.Gly558Val,ENST00000397114,;CARS,missense_variant,p.Gly651Val,ENST00000380525,NM_001194997.1,NM_001014437.2;CARS,missense_variant,p.Gly568Val,ENST00000397111,;CARS,missense_variant,p.Gly581Val,ENST00000401769,;CARS,missense_variant,p.Gly568Val,ENST00000278224,NM_139273.3,NM_001751.5;CARS,downstream_gene_variant,,ENST00000465240,;CARS,3_prime_UTR_variant,,ENST00000531387,;CARS,3_prime_UTR_variant,,ENST00000529772,;CARS,non_coding_transcript_exon_variant,,ENST00000526890,;							MODERATE	1703/2247	G568V	SYCC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380300		CCDS7742.1			1	
RIPK4	0	LGGM	GRCh37	21	43171318	43171318	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	19	9	.	.	ENST00000332512.3:c.562C>T	p.Leu188Phe	p.L188F	ENST00000332512	NM_020639.2	188	Ctc/Ttc	0	1		UPI0000125B50	0	getma.org/pdb.php?prot=RIPK4_HUMAN&from=22&to=282&var=L188F	ENST00000352483		ENSG00000183421	496		28	1.745		HGNC	p.L188F		RIPK4		SNV			1				ENST00000352483	protein_coding	getma.org/?cm=var&var=hg19,21,43171318,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF18,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/F		A	low	627/4017		getma.org/?cm=msa&ty=f&p=RIPK4_HUMAN&rb=22&re=282&var=L188F	deleterious(0.01)					RIPK4,missense_variant,p.Leu188Phe,ENST00000352483,;RIPK4,missense_variant,p.Leu188Phe,ENST00000332512,NM_020639.2;RIPK4,missense_variant,p.Leu125Phe,ENST00000544709,;RIPK4,missense_variant,p.Leu125Phe,ENST00000542057,;							MODERATE	562/2499	L188F	RIPK4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330161					1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	23	14	.	.	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33P	ENST00000349496		ENSG00000168036	2514		37	2.46		HGNC	p.S33P	COSM5682	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33P	CTNB1_HUMAN			Transcript		benign(0.423)	.	ENSP00000344456		CCDS2694.1			1	
TRUB1	0	LGGM	GRCh37	10	116731908	116731908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	21	10	.	.	ENST00000298746.3:c.611A>G	p.Lys204Arg	p.K204R	ENST00000298746	NM_139169.4	204	aAg/aGg	0	1	1	UPI000006DEBE	0	getma.org/pdb.php?prot=TRUB1_HUMAN&from=106&to=255&var=K204R	ENST00000298746		ENSG00000165832	16060		31	1.895		HGNC	p.K204R		TRUB1		SNV							ENST00000298746	protein_coding	getma.org/?cm=var&var=hg19,10,116731908,A,G&fts=all		HAMAP:MF_01080,hmmpanther:PTHR13767:SF2,hmmpanther:PTHR13767,Pfam_domain:PF01509,TIGRFAM_domain:TIGR00431,Superfamily_domains:SSF55120		K/R		G	low	672/3403		getma.org/?cm=msa&ty=f&p=TRUB1_HUMAN&rb=106&re=255&var=K204R	tolerated(0.16)	B4DZ90_HUMAN,B3KWQ1_HUMAN			YES	TRUB1,missense_variant,p.Lys204Arg,ENST00000298746,NM_139169.4;RNU6-1121P,upstream_gene_variant,,ENST00000516802,;							MODERATE	611/1050	K204R	TRUB1_HUMAN			Transcript		benign(0.204)	.	ENSP00000298746		CCDS7591.1			1	
ZNF628	0	LGGM	GRCh37	19	55994302	55994302	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	11	10	.	.	ENST00000598519.1:c.1742T>C	p.Leu581Pro	p.L581P	ENST00000598519	NM_033113.2	581	cTg/cCg	0	1	1	UPI00026B9C6E	0	getma.org/pdb.php?prot=ZN628_HUMAN&from=576&to=601&var=L577P	ENST00000598519		ENSG00000197483	28054		21	3.415		HGNC	p.L577P		ZNF628		SNV							ENST00000391718	protein_coding	getma.org/?cm=var&var=hg19,19,55994302,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF237,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/P		C	medium	2295/3847		getma.org/?cm=msa&ty=f&p=ZN628_HUMAN&rb=556&re=621&var=L577P	deleterious(0.02)	K7EL41_HUMAN			YES	ZNF628,missense_variant,p.Leu581Pro,ENST00000598519,NM_033113.2;ZNF628,missense_variant,p.Leu577Pro,ENST00000391718,;NAT14,upstream_gene_variant,,ENST00000205194,NM_020378.3;NAT14,upstream_gene_variant,,ENST00000591590,;NAT14,upstream_gene_variant,,ENST00000588985,;ZNF628,downstream_gene_variant,,ENST00000591164,;NAT14,upstream_gene_variant,,ENST00000587400,;NAT14,upstream_gene_variant,,ENST00000592719,;							MODERATE	1742/3180	L577P	ZN628_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000469591		CCDS33116.3			1	
DCHS2	0	LGGM	GRCh37	4	155155733	155155733	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	20	10	.	.	ENST00000357232.4:c.8706T>C	p.Ser2902=	p.S2902=	ENST00000357232	NM_017639.3	2902	agT/agC	0	1	1	UPI000035B018	0		ENST00000357232		ENSG00000197410	23111		30			HGNC	p.S2902S		DCHS2		SNV							ENST00000357232	protein_coding			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257		S		G		8706/11040				B3KT73_HUMAN			YES	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;							LOW	8706/8751		PCD23_HUMAN			Transcript			.	ENSP00000349768		CCDS3785.1			1	
SCUBE1	0	LGGM	GRCh37	22	43600083	43600083	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	27	11	.	.	ENST00000360835.4:c.2887G>A	p.Glu963Lys	p.E963K	ENST00000360835	NM_173050.3	963	Gaa/Aaa	0	1	1	UPI000020790F	0	NA	ENST00000360835		ENSG00000159307	13441		38	0.55		HGNC	p.E963K		SCUBE1		SNV							ENST00000360835	protein_coding	getma.org/?cm=var&var=hg19,22,43600083,C,T&fts=all		hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4		E/K		T	neutral	3014/9808		getma.org/?cm=msa&ty=f&p=SCUB1_HUMAN&rb=908&re=988&var=E963K	tolerated(0.18)				YES	SCUBE1,missense_variant,p.Glu963Lys,ENST00000360835,NM_173050.3;							MODERATE	2887/2967	E963K	SCUB1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000354080		CCDS14048.1			1	
TMEM184C	0	LGGM	GRCh37	4	148546066	148546066	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	47	11	.	.	ENST00000296582.3:c.403A>T	p.Asn135Tyr	p.N135Y	ENST00000296582	NM_018241.2	135	Aac/Tac	0	1	1	UPI000013E360	0	NA	ENST00000296582		ENSG00000164168	25587		58	1.59		HGNC	p.N135Y		TMEM184C		SNV							ENST00000508208	protein_coding	getma.org/?cm=var&var=hg19,4,148546066,A,T&fts=all		Pfam_domain:PF03619,hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF10		N/Y		T	low	977/4178		getma.org/?cm=msa&ty=f&p=T184C_HUMAN&rb=45&re=317&var=N135Y	tolerated(0.24)				YES	TMEM184C,missense_variant,p.Asn135Tyr,ENST00000296582,NM_018241.2;TMEM184C,missense_variant,p.Asn135Tyr,ENST00000508208,;TMEM184C,upstream_gene_variant,,ENST00000505999,;							MODERATE	403/1317	N135Y	T184C_HUMAN			Transcript		benign(0.009)	.	ENSP00000296582		CCDS3770.1			1	
OBSCN	0	LGGM	GRCh37	1	228493064	228493064	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	99	12	.	.	ENST00000570156.2:c.14507C>G	p.Thr4836Arg	p.T4836R	ENST00000570156	NM_001271223.2	4836	aCg/aGg	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		111			HGNC	p.T4591R		OBSCN		SNV							ENST00000570156	protein_coding							G		-/24030								OBSCN,missense_variant,p.Thr4836Arg,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Thr1513Arg,ENST00000366707,;OBSCN,intron_variant,,ENST00000422127,NM_001098623.2;OBSCN,intron_variant,,ENST00000284548,NM_052843.3;OBSCN,intron_variant,,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,;							MODIFIER	-/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
SRCAP	0	LGGM	GRCh37	16	30732624	30732624	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	30	13	.	.	ENST00000262518.4:c.3368G>T	p.Gly1123Val	p.G1123V	ENST00000262518	NM_006662.2	1123	gGc/gTc	0	1	1	UPI000059D368	0	NA	ENST00000262518		ENSG00000080603	16974		43	0.345		HGNC	p.G1123V		SRCAP		SNV			1				ENST00000262518	protein_coding	getma.org/?cm=var&var=hg19,16,30732624,G,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg		G/V		T	neutral	3753/10474		getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=1011&re=1399&var=G1123V		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,missense_variant,p.Gly1123Val,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Gly1123Val,ENST00000395059,;SRCAP,intron_variant,,ENST00000344771,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;SRCAP,intron_variant,,ENST00000380361,;							MODERATE	3368/9693	G1123V	SRCAP_HUMAN			Transcript		unknown(0)	.	ENSP00000262518		CCDS10689.2			1	
ENPP1	0	LGGM	GRCh37	6	132207780	132207780	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	28	13	.	.	ENST00000360971.2:c.2523A>G	p.Thr841=	p.T841=	ENST00000360971	NM_006208.2	841	acA/acG	0	1	1	UPI00001303F0	0		ENST00000360971		ENSG00000197594	3356		41			HGNC	p.T841T		ENPP1		SNV			1				ENST00000360971	protein_coding			Gene3D:1g8tA00,Pfam_domain:PF01223,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF64,SMART_domains:SM00477,SMART_domains:SM00892,Superfamily_domains:SSF54060		T		G		2543/7442				Q9NS95_HUMAN			YES	ENPP1,synonymous_variant,p.=,ENST00000360971,NM_006208.2;ENPP1,3_prime_UTR_variant,,ENST00000513998,;							LOW	2523/2778		ENPP1_HUMAN			Transcript			.	ENSP00000354238		CCDS5150.2			1	
TRPV2	0	LGGM	GRCh37	17	16340126	16340126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	26	13	.	.	ENST00000338560.7:c.2218G>A	p.Ala740Thr	p.A740T	ENST00000338560	NM_016113.4	740	Gct/Act	0	1	1	UPI0000032F4E	0	NA	ENST00000338560		ENSG00000187688	18082		39	0		HGNC	p.A310T		TRPV2		SNV							ENST00000577397	protein_coding	getma.org/?cm=var&var=hg19,17,16340126,G,A&fts=all		hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF5,TIGRFAM_domain:TIGR00870		A/T		A	neutral	2617/2808		getma.org/?cm=msa&ty=f&p=TRPV2_HUMAN&rb=646&re=764&var=A740T	tolerated(0.13)	J3QKR1_HUMAN			YES	TRPV2,missense_variant,p.Ala740Thr,ENST00000338560,NM_016113.4;TRPV2,missense_variant,p.Ala310Thr,ENST00000577397,;TRPV2,missense_variant,p.Gly132Asp,ENST00000581560,;TRPV2,3_prime_UTR_variant,,ENST00000580788,;TRPV2,3_prime_UTR_variant,,ENST00000577865,;TRPV2,3_prime_UTR_variant,,ENST00000577277,;FAM211A-AS1,upstream_gene_variant,,ENST00000581361,;FAM211A-AS1,upstream_gene_variant,,ENST00000483588,;RP11-138I1.3,downstream_gene_variant,,ENST00000585048,;FAM211A-AS1,upstream_gene_variant,,ENST00000391079,NR_003054.1;FAM211A-AS1,upstream_gene_variant,,ENST00000365172,;FAM211A-AS1,upstream_gene_variant,,ENST00000384229,NR_002744.1;FAM211A-AS1,upstream_gene_variant,,ENST00000475953,;FAM211A-AS1,upstream_gene_variant,,ENST00000581913,;FAM211A-AS1,upstream_gene_variant,,ENST00000470491,;FAM211A-AS1,upstream_gene_variant,,ENST00000481027,;FAM211A-AS1,upstream_gene_variant,,ENST00000481898,;FAM211A-AS1,upstream_gene_variant,,ENST00000480811,;FAM211A-AS1,upstream_gene_variant,,ENST00000483140,;FAM211A-AS1,upstream_gene_variant,,ENST00000477249,;FAM211A-AS1,upstream_gene_variant,,ENST00000582911,;FAM211A-AS1,upstream_gene_variant,,ENST00000491009,;FAM211A-AS1,upstream_gene_variant,,ENST00000484836,;FAM211A-AS1,upstream_gene_variant,,ENST00000472367,;FAM211A-AS1,upstream_gene_variant,,ENST00000460249,;FAM211A-AS1,upstream_gene_variant,,ENST00000487066,;FAM211A-AS1,upstream_gene_variant,,ENST00000580180,;FAM211A-AS1,upstream_gene_variant,,ENST00000478103,;FAM211A-AS1,upstream_gene_variant,,ENST00000583400,;FAM211A-AS1,upstream_gene_variant,,ENST00000584926,;FAM211A-AS1,upstream_gene_variant,,ENST00000475947,;FAM211A-AS1,upstream_gene_variant,,ENST00000579473,;FAM211A-AS1,upstream_gene_variant,,ENST00000581718,;FAM211A-AS1,upstream_gene_variant,,ENST00000584177,;FAM211A-AS1,upstream_gene_variant,,ENST00000580770,;FAM211A-AS1,upstream_gene_variant,,ENST00000492250,;FAM211A-AS1,upstream_gene_variant,,ENST00000584141,;FAM211A-AS1,upstream_gene_variant,,ENST00000578380,;TRPV2,downstream_gene_variant,,ENST00000583241,;TRPV2,non_coding_transcript_exon_variant,,ENST00000475513,;TRPV2,non_coding_transcript_exon_variant,,ENST00000493434,;FAM211A,downstream_gene_variant,,ENST00000409887,;FAM211A-AS1,upstream_gene_variant,,ENST00000497774,;FAM211A-AS1,upstream_gene_variant,,ENST00000578757,;							MODERATE	2218/2295	A740T	TRPV2_HUMAN			Transcript		benign(0.006)	.	ENSP00000342222		CCDS32576.1			1	
SGK1	0	LGGM	GRCh37	6	134528492	134528492	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	33	14	.	.	ENST00000367858.5:c.361+2T>C		p.X121_splice	ENST00000367858	NM_001143676.1			0	1	1	UPI000013CA0E	0		ENST00000367858		ENSG00000118515	10810		47			HGNC	-		SGK1		SNV							ENST00000367858	protein_coding							G		-/3201				E9PP33_HUMAN,E9PJN2_HUMAN,B7Z1G1_HUMAN			YES	SGK1,splice_donor_variant,,ENST00000367858,NM_001143676.1;SGK1,splice_donor_variant,,ENST00000461976,;snoU13,upstream_gene_variant,,ENST00000458970,;SGK1,splice_donor_variant,,ENST00000531575,;SGK1,splice_donor_variant,,ENST00000524387,;SGK1,splice_donor_variant,,ENST00000484353,;							HIGH	361/1581		SGK1_HUMAN			Transcript			.	ENSP00000356832		CCDS47476.1			1	
CEACAM5	0	LGGM	GRCh37	19	42225095	42225095	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	17	14	.	.	ENST00000221992.6:c.2025T>G	p.Ser675=	p.S675=	ENST00000221992	NM_004363.2	675	tcT/tcG	0	1	1	UPI000013C7E5	0		ENST00000221992		ENSG00000105388	1817		31			HGNC	p.S675S		CEACAM5		SNV							ENST00000405816	protein_coding			PROSITE_profiles:PS50835,SMART_domains:SM00409		S		G		2139/2874				Q7KZ28_HUMAN,M0QXV9_HUMAN			YES	CEACAM5,splice_region_variant,p.=,ENST00000221992,NM_004363.2;CEACAM5,splice_region_variant,p.=,ENST00000398599,;CEACAM5,splice_region_variant,p.=,ENST00000405816,;CEA,intron_variant,,ENST00000598976,;CEA,intron_variant,,ENST00000435837,;CEACAM5,downstream_gene_variant,,ENST00000595113,;CEACAM5,downstream_gene_variant,,ENST00000595403,;							LOW	2025/2109		CEAM5_HUMAN			Transcript			.	ENSP00000221992		CCDS12584.1			1	
CEP250	0	LGGM	GRCh37	20	34099382	34099382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	13	14	.	.	ENST00000397527.1:c.7256C>T	p.Thr2419Ile	p.T2419I	ENST00000397527	NM_007186.3	2419	aCt/aTt	0	1	1	UPI000006FE8F	0	NA	ENST00000397527		ENSG00000126001	1859		27	2.14		HGNC	p.T2363I	rs753961048	CEP250		SNV							ENST00000342580	protein_coding	getma.org/?cm=var&var=hg19,20,34099382,C,T&fts=all		hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1		T/I		T	medium	7976/8398		getma.org/?cm=msa&ty=f&p=CP250_HUMAN&rb=2171&re=2441&var=T2419I		Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN			YES	CEP250,missense_variant,p.Thr2419Ile,ENST00000397527,NM_007186.3;CEP250,missense_variant,p.Thr2363Ile,ENST00000342580,;CEP250,missense_variant,p.Thr854Ile,ENST00000422671,;	0.000116						MODERATE	7256/7329	T2419I	CP250_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000380661	8.24E-06	CCDS13255.1			1	
OSBPL8	0	LGGM	GRCh37	12	76791591	76791591	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	26	14	.	.	ENST00000261183.3:c.555T>C	p.Gly185=	p.G185=	ENST00000261183	NM_020841.4	185	ggT/ggC	0	1	1	UPI000006ECD1	0		ENST00000261183		ENSG00000091039	16396		40			HGNC	p.G143G		OSBPL8		SNV							ENST00000393250	protein_coding			Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF77,PROSITE_profiles:PS50003		G		G		1035/7239				Q96E43_HUMAN,Q6ZME5_HUMAN,F8VZB8_HUMAN,F8VVE7_HUMAN,F8VVD3_HUMAN,F8VQX7_HUMAN			YES	OSBPL8,synonymous_variant,p.=,ENST00000261183,NM_020841.4;OSBPL8,synonymous_variant,p.=,ENST00000393249,;OSBPL8,synonymous_variant,p.=,ENST00000393250,NM_001003712.1;OSBPL8,synonymous_variant,p.=,ENST00000546946,;OSBPL8,synonymous_variant,p.=,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,;							LOW	555/2670		OSBL8_HUMAN			Transcript			.	ENSP00000261183		CCDS31862.1			1	
KHNYN	0	LGGM	GRCh37	14	24901535	24901535	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	10	15	.	.	ENST00000251343.5:c.1068G>A	p.Arg356=	p.R356=	ENST00000251343		356	agG/agA	0	1	1	UPI000000CC1F	0		ENST00000251343		ENSG00000100441	20166		25			HGNC	p.R356R		KHNYN		SNV							ENST00000553935	protein_coding			hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF28,Low_complexity_(Seg):seg		R		A		1207/6225				G3V3G3_HUMAN,G3V331_HUMAN			YES	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,;							LOW	1068/2037		KHNYN_HUMAN			Transcript			.	ENSP00000251343		CCDS32058.1			1	
F13B	0	LGGM	GRCh37	1	197026253	197026264	+	inframe_deletion	In_Frame_Del	DEL	TAAATCTTAGAG	TAAATCTTAGAG	-	novel	by Submitter	H081077	H081077N.bam	TAAATCTTAGAG	TAAATCTTAGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	25	15	.	.	ENST00000367412.1:c.1050_1061del	p.Ser351_Tyr354del	p.S351_Y354del	ENST00000367412	NM_001994.2	350	caCTCTAAGATTTAt/cat	0	1	1	UPI000013D8E0	0		ENST00000367412		ENSG00000143278	3534		40			HGNC	p.350_354del		F13B		deletion			1				ENST00000367412	protein_coding			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF314,SMART_domains:SM00032,Superfamily_domains:SSF57535		HSKIY/H		-		1094-1105/2217							YES	F13B,inframe_deletion,p.Ser351_Tyr354del,ENST00000367412,NM_001994.2;							MODERATE	1050-1061/1986		F13B_HUMAN			Transcript			.	ENSP00000356382		CCDS1388.1			1	
GABRA4	0	LGGM	GRCh37	4	46930551	46930551	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	42	15	.	.	ENST00000264318.3:c.1356A>G	p.Pro452=	p.P452=	ENST00000264318	NM_000809.3	452	ccA/ccG	0	1	1	UPI0000074200	0		ENST00000264318		ENSG00000109158	4078		57			HGNC	p.P452P		GABRA4		SNV							ENST00000264318	protein_coding			TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393		P		C		2339/11973							YES	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,;							LOW	1356/1665		GBRA4_HUMAN			Transcript			.	ENSP00000264318		CCDS3473.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64526850	64526850	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	29	15	.	.	ENST00000498707.1:c.5442A>G	p.Gln1814=	p.Q1814=	ENST00000498707	NM_182920.1	1814	caA/caG	0	1	1	UPI00000463F0	0		ENST00000498707		ENSG00000163638	13202		44			HGNC	p.Q1786Q		ADAMTS9		SNV							ENST00000295903	protein_coding			PROSITE_profiles:PS51046,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF08685		Q		C		5785/7464				B4E0E4_HUMAN			YES	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,synonymous_variant,p.=,ENST00000481060,;							LOW	5442/5808		ATS9_HUMAN			Transcript			.	ENSP00000418735		CCDS2903.1			1	
CXADR	0	LGGM	GRCh37	21	18937811	18937811	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	37	16	.	.	ENST00000284878.7:c.899C>T	p.Ser300Leu	p.S300L	ENST00000284878	NM_001338.4	300	tCa/tTa	0	1	1	UPI000004F892	0		ENST00000284878		ENSG00000154639	2559		53			HGNC	p.H213Y		CXADR		SNV							ENST00000400166	protein_coding			hmmpanther:PTHR12231:SF9,hmmpanther:PTHR12231		S/L		T		1647/6254			deleterious(0)				YES	CXADR,missense_variant,p.Ser300Leu,ENST00000284878,NM_001338.4;CXADR,missense_variant,p.Ser300Leu,ENST00000400169,NM_001207066.1;CXADR,missense_variant,p.His213Tyr,ENST00000400166,NM_001207063.1;CXADR,missense_variant,p.Ser259Leu,ENST00000306618,;CXADR,missense_variant,p.His161Tyr,ENST00000400165,NM_001207064.1;CXADR,downstream_gene_variant,,ENST00000356275,NM_001207065.1;							MODERATE	899/1098		CXAR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000284878		CCDS33519.1			1	
LILRA2	0	LGGM	GRCh37	19	55086966	55086966	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	29	16	.	.	ENST00000251377.3:c.899A>G	p.Asn300Ser	p.N300S	ENST00000251377		300	aAc/aGc	0	1	1	UPI0000034C01	0	getma.org/pdb.php?prot=LIRA2_HUMAN&from=223&to=316&var=N300S	ENST00000251377		ENSG00000239998	6603		45	1.035		HGNC	p.N300S		LILRA2		SNV							ENST00000251377	protein_coding	getma.org/?cm=var&var=hg19,19,55086966,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF90,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		N/S		G	low	1032/1799		getma.org/?cm=msa&ty=f&p=LIRA2_HUMAN&rb=223&re=316&var=N300S	tolerated(0.15)	E9PDF4_HUMAN			YES	LILRA2,missense_variant,p.Asn300Ser,ENST00000251377,;LILRA2,missense_variant,p.Asn300Ser,ENST00000391738,NM_001130917.1;LILRA2,missense_variant,p.Asn300Ser,ENST00000251376,NM_006866.2;LILRA2,missense_variant,p.Asn300Ser,ENST00000439534,;LILRA2,missense_variant,p.Asn288Ser,ENST00000391737,;LILRB1,intron_variant,,ENST00000396321,;LILRB1,intron_variant,,ENST00000418536,;LILRB1,intron_variant,,ENST00000448689,;LILRA2,downstream_gene_variant,,ENST00000495786,;LILRA2,upstream_gene_variant,,ENST00000472992,;							MODERATE	899/1452	N300S	LIRA2_HUMAN			Transcript		benign(0.1)	.	ENSP00000251377		CCDS46179.1			1	
OR2T10	0	LGGM	GRCh37	1	248756144	248756144	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	26	16	.	.	ENST00000330500.2:c.926A>G	p.Lys309Arg	p.K309R	ENST00000330500	NM_001004693.1	309	aAa/aGa	0	1	1	UPI000004F23B	0	NA	ENST00000330500		ENSG00000184022	19573		42	0.205		HGNC	p.K309R		OR2T10		SNV							ENST00000330500	protein_coding	getma.org/?cm=var&var=hg19,1,248756144,T,C&fts=all		hmmpanther:PTHR26453:SF101,hmmpanther:PTHR26453,Superfamily_domains:SSF81321		K/R		C	neutral	957/1049		getma.org/?cm=msa&ty=f&p=O2T10_HUMAN&rb=254&re=312&var=K309R	tolerated(0.21)				YES	OR2T10,missense_variant,p.Lys309Arg,ENST00000330500,NM_001004693.1;Y_RNA,downstream_gene_variant,,ENST00000364732,;							MODERATE	926/939	K309R	O2T10_HUMAN			Transcript		benign(0.001)	.	ENSP00000329210		CCDS31121.1			1	
ALDH1L2	0	LGGM	GRCh37	12	105443742	105443742	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	32	16	.	.	ENST00000258494.9:c.1630A>T	p.Ile544Phe	p.I544F	ENST00000258494	NM_001034173.3	544	Att/Ttt	0	1	1	UPI00000477A9	0	getma.org/pdb.php?prot=AL1L2_HUMAN&from=451&to=919&var=I544F	ENST00000258494		ENSG00000136010	26777		48	2.075		HGNC	p.I544F		ALDH1L2		SNV							ENST00000258494	protein_coding	getma.org/?cm=var&var=hg19,12,105443742,T,A&fts=all		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF131,Pfam_domain:PF00171,Gene3D:3.40.605.10,PIRSF_domain:PIRSF036489,Superfamily_domains:SSF53720		I/F		A	medium	1771/7547		getma.org/?cm=msa&ty=f&p=AL1L2_HUMAN&rb=451&re=919&var=I544F	deleterious(0.01)				YES	ALDH1L2,missense_variant,p.Ile544Phe,ENST00000258494,NM_001034173.3;ALDH1L2,downstream_gene_variant,,ENST00000424857,;C12orf45,downstream_gene_variant,,ENST00000548583,;ALDH1L2,3_prime_UTR_variant,,ENST00000552270,;ALDH1L2,non_coding_transcript_exon_variant,,ENST00000549335,;							MODERATE	1630/2772	I544F	AL1L2_HUMAN			Transcript		possibly_damaging(0.76)	.	ENSP00000258494		CCDS31891.1			1	
URGCP	0	LGGM	GRCh37	7	43916424	43916424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	22	17	.	.	ENST00000453200.1:c.2638G>T	p.Gly880Cys	p.G880C	ENST00000453200		880	Ggc/Tgc	0	1	1	UPI000020EE9D	0	NA	ENST00000453200		ENSG00000106608	30890		39	2.325		HGNC	p.G837C		URGCP		SNV							ENST00000443736	protein_coding	getma.org/?cm=var&var=hg19,7,43916424,C,A&fts=all		PROSITE_profiles:PS51717,hmmpanther:PTHR22796		G/C		A	medium	3132/4042		getma.org/?cm=msa&ty=f&p=URGCP_HUMAN&rb=4&re=929&var=G880C	deleterious(0)	C9JKA8_HUMAN,C9J0W2_HUMAN			YES	URGCP,missense_variant,p.Gly837Cys,ENST00000336086,;URGCP,missense_variant,p.Gly880Cys,ENST00000453200,;URGCP,missense_variant,p.Gly837Cys,ENST00000223341,;URGCP,missense_variant,p.Gly837Cys,ENST00000443736,NM_001077663.1;URGCP,missense_variant,p.Gly871Cys,ENST00000402306,NM_017920.3;URGCP,missense_variant,p.Gly837Cys,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,;							MODERATE	2638/2796	G880C	URGCP_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000396918		CCDS47578.1			1	
CAPN2	0	LGGM	GRCh37	1	223934723	223934723	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	51	17	.	.	ENST00000295006.5:c.585A>G	p.Leu195=	p.L195=	ENST00000295006	NM_001748.4	195	ctA/ctG	0	1	1	UPI000059D0B9	0		ENST00000295006		ENSG00000162909	1479		68			HGNC	p.L195L	rs761588429	CAPN2		SNV							ENST00000295006	protein_coding			PROSITE_profiles:PS50203,hmmpanther:PTHR10183:SF268,hmmpanther:PTHR10183,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704		L		G		894/3573	4.50E-05						YES	CAPN2,synonymous_variant,p.=,ENST00000295006,NM_001748.4;CAPN2,synonymous_variant,p.=,ENST00000433674,NM_001146068.1;CAPN2,synonymous_variant,p.=,ENST00000434648,;CAPN2,upstream_gene_variant,,ENST00000480581,;CAPN2,upstream_gene_variant,,ENST00000483579,;							LOW	585/2103		CAN2_HUMAN			Transcript			.	ENSP00000295006	2.47E-05	CCDS31035.1			1	
AKAP11	0	LGGM	GRCh37	13	42877812	42877812	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	38	17	.	.	ENST00000025301.2:c.4930C>A	p.Leu1644Ile	p.L1644I	ENST00000025301	NM_016248.3	1644	Ctt/Att	0	1	1	UPI0000125747	0	NA	ENST00000025301		ENSG00000023516	369		55	2.125		HGNC	p.L1644I		AKAP11		SNV							ENST00000025301	protein_coding	getma.org/?cm=var&var=hg19,13,42877812,C,A&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3		L/I		A	medium	5105/9913		getma.org/?cm=msa&ty=f&p=AKA11_HUMAN&rb=200&re=1899&var=L1644I	deleterious(0.01)	Q6AI61_HUMAN			YES	AKAP11,missense_variant,p.Leu1644Ile,ENST00000025301,NM_016248.3;							MODERATE	4930/5706	L1644I	AKA11_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000025301		CCDS9383.1			1	
RFPL3	0	LGGM	GRCh37	22	32756510	32756510	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	30	18	.	.	ENST00000249007.4:c.645C>A	p.Phe215Leu	p.F215L	ENST00000249007	NM_001098535.1	215	ttC/ttA	0	1	1	UPI000013CC68	0	getma.org/pdb.php?prot=RFPL3_HUMAN&from=177&to=300&var=F215L	ENST00000249007		ENSG00000128276	9980		48	2.355		HGNC	p.F215L		RFPL3		SNV							ENST00000249007	protein_coding	getma.org/?cm=var&var=hg19,22,32756510,C,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF211,PROSITE_profiles:PS50188		F/L		A	medium	850/1488		getma.org/?cm=msa&ty=f&p=RFPL3_HUMAN&rb=177&re=300&var=F215L	deleterious(0.02)				YES	RFPL3,missense_variant,p.Phe215Leu,ENST00000249007,NM_001098535.1;RFPL3,missense_variant,p.Phe186Leu,ENST00000397468,NM_006604.2;RFPL3,missense_variant,p.Phe186Leu,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,;							MODERATE	645/954	F215L	RFPL3_HUMAN			Transcript		benign(0.321)	.	ENSP00000249007		CCDS43011.1			1	
LPO	0	LGGM	GRCh37	17	56326479	56326479	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	39	18	.	.	ENST00000262290.4:c.384C>T	p.Pro128=	p.P128=	ENST00000262290	NM_006151.2	128	ccC/ccT	0	1	1	UPI0000131631	0		ENST00000262290		ENSG00000167419	6678		57			HGNC	p.P7P	rs760157431	LPO		SNV							ENST00000580890	protein_coding			hmmpanther:PTHR11475:SF53,hmmpanther:PTHR11475,Gene3D:1.10.640.10		P		T		700/2979	1.50E-05			J3QSD8_HUMAN,F5H386_HUMAN			YES	LPO,synonymous_variant,p.=,ENST00000262290,NM_006151.2;LPO,synonymous_variant,p.=,ENST00000421678,NM_001160102.1;LPO,synonymous_variant,p.=,ENST00000582328,;LPO,synonymous_variant,p.=,ENST00000543544,;LPO,synonymous_variant,p.=,ENST00000581008,;LPO,synonymous_variant,p.=,ENST00000580890,;LPO,non_coding_transcript_exon_variant,,ENST00000578643,;LPO,non_coding_transcript_exon_variant,,ENST00000578403,;LPO,non_coding_transcript_exon_variant,,ENST00000580346,;LPO,upstream_gene_variant,,ENST00000389576,;LPO,downstream_gene_variant,,ENST00000582684,;							LOW	384/2139		PERL_HUMAN			Transcript			.	ENSP00000262290	8.24E-06	CCDS32689.1			1	
CRIP3	0	LGGM	GRCh37	6	43274009	43274009	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	30	19	.	.	ENST00000372569.3:c.443G>T	p.Cys148Phe	p.C148F	ENST00000372569	NM_206922.2	148	tGt/tTt	0	1		UPI0000457446	0	getma.org/pdb.php?prot=CRIP3_HUMAN&from=124&to=181&var=C148F	ENST00000274990		ENSG00000146215	17751		49	4.105		HGNC	p.C20F		CRIP3		SNV							ENST00000451294	protein_coding	getma.org/?cm=var&var=hg19,6,43274009,C,A&fts=all		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,SMART_domains:SM00132,Superfamily_domains:SSF57716		C/F		A	high	448/800		getma.org/?cm=msa&ty=f&p=CRIP3_HUMAN&rb=124&re=181&var=C148F	deleterious(0)					CRIP3,missense_variant,p.Cys148Phe,ENST00000372569,NM_206922.2;CRIP3,missense_variant,p.Cys148Phe,ENST00000274990,;CRIP3,missense_variant,p.Cys20Phe,ENST00000451294,;CRIP3,missense_variant,p.Cys72Phe,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000372585,NM_153320.2;SLC22A7,downstream_gene_variant,,ENST00000372589,NM_006672.3;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000436107,;ZNF318,downstream_gene_variant,,ENST00000607252,;SLC22A7,downstream_gene_variant,,ENST00000487175,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;ZNF318,downstream_gene_variant,,ENST00000605935,;CRIP3,downstream_gene_variant,,ENST00000485819,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;							MODERATE	443/654	C148F	CRIP3_HUMAN			Transcript		possibly_damaging(0.637)	.	ENSP00000274990					1	
XIRP2	0	LGGM	GRCh37	2	168107715	168107715	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	42	19	.	.	ENST00000409195.1:c.9813T>C	p.Tyr3271=	p.Y3271=	ENST00000409195	NM_152381.5	3271	taT/taC	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		61			HGNC	p.Y3049Y		XIRP2		SNV							ENST00000409273	protein_coding			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		Y		C		9902/12675				J3KNB1_HUMAN			YES	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;							LOW	9813/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
HMGCR	0	LGGM	GRCh37	5	74650962	74650962	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	31	19	.	.	ENST00000287936.4:c.1645A>C	p.Lys549Gln	p.K549Q	ENST00000287936	NM_000859.2	549	Aaa/Caa	0	1	1	UPI000012C9E2	0	getma.org/pdb.php?prot=HMDH_HUMAN&from=489&to=871&var=K549Q	ENST00000287936		ENSG00000113161	5006		50	0.53		HGNC	p.K549Q		HMGCR		SNV			1				ENST00000287936	protein_coding	getma.org/?cm=var&var=hg19,5,74650962,A,C&fts=all		PROSITE_profiles:PS50065,hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,Gene3D:3.90.770.10,TIGRFAM_domain:TIGR00920,Pfam_domain:PF00368,TIGRFAM_domain:TIGR00533,Superfamily_domains:SSF56542		K/Q		C	neutral	1801/4585		getma.org/?cm=msa&ty=f&p=HMDH_HUMAN&rb=489&re=871&var=K549Q	tolerated(0.4)	D6RIW0_HUMAN,C9JKX7_HUMAN			YES	HMGCR,missense_variant,p.Lys549Gln,ENST00000287936,NM_000859.2;HMGCR,missense_variant,p.Lys549Gln,ENST00000511206,;HMGCR,intron_variant,,ENST00000343975,NM_001130996.1;HMGCR,upstream_gene_variant,,ENST00000509085,;HMGCR,upstream_gene_variant,,ENST00000511986,;HMGCR,non_coding_transcript_exon_variant,,ENST00000515776,;HMGCR,downstream_gene_variant,,ENST00000504466,;HMGCR,upstream_gene_variant,,ENST00000514315,;HMGCR,upstream_gene_variant,,ENST00000512053,;HMGCR,upstream_gene_variant,,ENST00000508070,;							MODERATE	1645/2667	K549Q	HMDH_HUMAN			Transcript		benign(0.002)	.	ENSP00000287936		CCDS4027.1			1	
UBR4	0	LGGM	GRCh37	1	19475117	19475117	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	41	19	.	.	ENST00000375254.3:c.7434G>T	p.Leu2478=	p.L2478=	ENST00000375254	NM_020765.2	2478	ctG/ctT	0	1	1	UPI000021276F	0		ENST00000375254		ENSG00000127481	30313		60			HGNC	p.L1199L		UBR4		SNV							ENST00000417040	protein_coding			hmmpanther:PTHR21725		L		A		7462/15906				Q96HY5_HUMAN			YES	UBR4,synonymous_variant,p.=,ENST00000375267,;UBR4,synonymous_variant,p.=,ENST00000375254,NM_020765.2;UBR4,synonymous_variant,p.=,ENST00000375217,;UBR4,synonymous_variant,p.=,ENST00000375226,;UBR4,synonymous_variant,p.=,ENST00000417040,;UBR4,synonymous_variant,p.=,ENST00000425413,;UBR4,upstream_gene_variant,,ENST00000465036,;UBR4,downstream_gene_variant,,ENST00000419533,;							LOW	7434/15552		UBR4_HUMAN			Transcript			.	ENSP00000364403		CCDS189.1			1	
PTPRC	0	LGGM	GRCh37	1	198697542	198697542	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	37	19	.	.	ENST00000442510.2:c.1794C>T	p.Leu598=	p.L598=	ENST00000442510		598	ctC/ctT	0	1	1	UPI000046FDB4	0		ENST00000442510		ENSG00000081237	9666		56			HGNC	p.L550L		PTPRC		SNV			1				ENST00000529828	protein_coding			PIRSF_domain:PIRSF002004,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF278,Transmembrane_helices:TMhelix		L		T		1935/5164				M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN			YES	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,synonymous_variant,p.=,ENST00000530727,;PTPRC,synonymous_variant,p.=,ENST00000529828,;							LOW	1794/3921					Transcript			.	ENSP00000411355		CCDS1397.2			1	
OTOG	0	LGGM	GRCh37	11	17635199	17635199	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	34	20	.	.	ENST00000399391.2:c.6515A>G	p.Asn2172Ser	p.N2172S	ENST00000399391	NM_001277269.1	2172	aAc/aGc	0	1	1	UPI0001662628	0	NA	ENST00000399391		ENSG00000188162	8516		54	1.555		HGNC	p.N2172S		OTOG		SNV			1				ENST00000399391	protein_coding	getma.org/?cm=var&var=hg19,11,17635199,A,G&fts=all		PROSITE_profiles:PS51233,hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00216		N/S		G	low	6515/8778		getma.org/?cm=msa&ty=f&p=OTOG_HUMAN&rb=2112&re=2266&var=N2172S		H9KVB3_HUMAN			YES	OTOG,missense_variant,p.Asn2099Ser,ENST00000399397,;OTOG,missense_variant,p.Asn2172Ser,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Asn1178Ser,ENST00000342528,;							MODERATE	6515/8778	N2172S	OTOG_HUMAN			Transcript		benign(0.099)	.	ENSP00000382323		CCDS59225.1			1	
TCF4	0	LGGM	GRCh37	18	52901820	52901820	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	30	20	.	.	ENST00000398339.1:c.1751C>T	p.Ala584Val	p.A584V	ENST00000398339	NM_001243226.1	584	gCg/gTg	0	1		UPI000012DA19	0	NA	ENST00000356073		ENSG00000196628	11634		50	2.125		HGNC	p.A458V		TCF4		SNV			1				ENST00000568673	protein_coding	getma.org/?cm=var&var=hg19,18,52901820,G,A&fts=all		hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10		A/V		A	medium	2057/8317		getma.org/?cm=msa&ty=f&p=ITF2_HUMAN&rb=401&re=564&var=A482V	deleterious(0.01)	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				TCF4,missense_variant,p.Ala482Val,ENST00000354452,NM_001083962.1;TCF4,missense_variant,p.Ala482Val,ENST00000356073,NM_003199.2;TCF4,missense_variant,p.Ala458Val,ENST00000537578,NM_001243227.1;TCF4,missense_variant,p.Ala488Val,ENST00000564403,NM_001243228.1;TCF4,missense_variant,p.Ala457Val,ENST00000568740,;TCF4,missense_variant,p.Ala458Val,ENST00000540999,;TCF4,missense_variant,p.Ala584Val,ENST00000398339,NM_001243226.1;TCF4,missense_variant,p.Ala322Val,ENST00000457482,;TCF4,missense_variant,p.Ala482Val,ENST00000565018,;TCF4,missense_variant,p.Ala458Val,ENST00000568673,;TCF4,missense_variant,p.Ala482Val,ENST00000564999,;TCF4,missense_variant,p.Ala440Val,ENST00000543082,NM_001243231.1;TCF4,missense_variant,p.Ala411Val,ENST00000544241,NM_001243232.1;TCF4,missense_variant,p.Ala352Val,ENST00000561992,NM_001243233.1;TCF4,missense_variant,p.Ala422Val,ENST00000566279,;TCF4,missense_variant,p.Ala479Val,ENST00000566286,NM_001243230.1;TCF4,missense_variant,p.Ala422Val,ENST00000567880,;TCF4,missense_variant,p.Ala352Val,ENST00000537856,;TCF4,missense_variant,p.Ala411Val,ENST00000564228,;TCF4,missense_variant,p.Ala322Val,ENST00000570287,NM_001243235.1,NM_001243234.1;TCF4,missense_variant,p.Ala352Val,ENST00000570177,;TCF4,missense_variant,p.Ala322Val,ENST00000561831,NM_001243236.1;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;							MODERATE	1445/2004	A482V	ITF2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000348374		CCDS11960.1			1	
COG2	0	LGGM	GRCh37	1	230805104	230805104	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	58	20	.	.	ENST00000366669.4:c.597T>C	p.Arg199=	p.R199=	ENST00000366669	NM_001145036.1	199	cgT/cgC	0	1	1	UPI0000127E38	0		ENST00000366669		ENSG00000135775	6546		78			HGNC	p.R199R		COG2		SNV							ENST00000366668	protein_coding			hmmpanther:PTHR12961		R		C		712/2921				F5H1E5_HUMAN,B7Z2Y2_HUMAN,B1ALW7_HUMAN			YES	COG2,splice_region_variant,p.=,ENST00000534989,;COG2,splice_region_variant,p.=,ENST00000366669,NM_001145036.1,NM_007357.2;COG2,splice_region_variant,p.=,ENST00000366668,;COG2,splice_region_variant,p.=,ENST00000535166,;COG2,splice_region_variant,,ENST00000494371,;COG2,splice_region_variant,,ENST00000468893,;							LOW	597/2217		COG2_HUMAN			Transcript			.	ENSP00000355629		CCDS1584.1			1	
IL12RB2	0	LGGM	GRCh37	1	67787529	67787529	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	50	21	.	.	ENST00000262345.1:c.321T>C	p.Asn107=	p.N107=	ENST00000262345	NM_001559.2	107	aaT/aaC	0	1	1	UPI0000046B13	0		ENST00000262345		ENSG00000081985	5972		71			HGNC	p.N107N		IL12RB2		SNV			1				ENST00000262345	protein_coding			Pfam_domain:PF06328,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF79		N		C		961/4040							YES	IL12RB2,synonymous_variant,p.=,ENST00000262345,NM_001559.2;IL12RB2,synonymous_variant,p.=,ENST00000371000,NM_001258216.1,NM_001258214.1;IL12RB2,synonymous_variant,p.=,ENST00000541374,;IL12RB2,synonymous_variant,p.=,ENST00000544434,NM_001258215.1;IL12RB2,upstream_gene_variant,,ENST00000441640,;							LOW	321/2589		I12R2_HUMAN			Transcript			.	ENSP00000262345		CCDS638.1			1	
LRRC37B	0	LGGM	GRCh37	17	30348745	30348745	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	30	22	.	.	ENST00000341671.7:c.580A>G	p.Lys194Glu	p.K194E	ENST00000341671	NM_052888.2	194	Aaa/Gaa	0	1	1	UPI000044D37B	0	NA	ENST00000341671		ENSG00000185158	29070		52	1.845		HGNC	p.K206E		LRRC37B		SNV							ENST00000578674	protein_coding	getma.org/?cm=var&var=hg19,17,30348745,A,G&fts=all		hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF5		K/E		G	low	585/3025		getma.org/?cm=msa&ty=f&p=LR37B_HUMAN&rb=1&re=555&var=K194E	deleterious(0)	J3QL10_HUMAN,F5H5K1_HUMAN			YES	LRRC37B,missense_variant,p.Lys221Glu,ENST00000327564,;LRRC37B,missense_variant,p.Lys112Glu,ENST00000543378,;LRRC37B,missense_variant,p.Lys194Glu,ENST00000341671,NM_052888.2;LRRC37B,missense_variant,p.Lys206Glu,ENST00000584368,;LRRC37B,missense_variant,p.Lys194Glu,ENST00000394713,;LRRC37B,missense_variant,p.Lys112Glu,ENST00000579206,;LRRC37B,missense_variant,p.Lys176Glu,ENST00000583342,;LRRC37B,upstream_gene_variant,,ENST00000581786,;LRRC37B,upstream_gene_variant,,ENST00000580871,;LRRC37B,downstream_gene_variant,,ENST00000581370,;LRRC37B,missense_variant,p.Lys206Glu,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583204,;LRRC37B,upstream_gene_variant,,ENST00000582815,;RP11-640N20.5,downstream_gene_variant,,ENST00000448026,;							MODERATE	580/2844	K194E	LR37B_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000340519		CCDS32609.1			1	
CAD	0	LGGM	GRCh37	2	27463196	27463196	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	38	23	.	.	ENST00000264705.4:c.5560C>T	p.Arg1854Ter	p.R1854*	ENST00000264705	NM_004341.3	1854	Cga/Tga	0	1	1	UPI000013D558	0	NA	ENST00000264705		ENSG00000084774	1424		61	0		HGNC	p.R1854X		CAD		SNV							ENST00000264705	protein_coding	getma.org/?cm=var&var=hg19,2,27463196,C,T&fts=all		hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5		R/*		T	NA	5722/7265		NA		Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN			YES	CAD,stop_gained,p.Arg1854Ter,ENST00000264705,NM_004341.3;CAD,stop_gained,p.Arg1791Ter,ENST00000403525,;CAD,stop_gained,p.Arg142Ter,ENST00000456311,;CAD,upstream_gene_variant,,ENST00000428460,;CAD,downstream_gene_variant,,ENST00000458503,;CAD,downstream_gene_variant,,ENST00000491461,;CAD,downstream_gene_variant,,ENST00000487239,;CAD,downstream_gene_variant,,ENST00000479002,;							HIGH	5560/6678	R1854*	PYR1_HUMAN			Transcript			.	ENSP00000264705		CCDS1742.1			1	
KBTBD7	0	LGGM	GRCh37	13	41767162	41767162	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	41	23	.	.	ENST00000379483.3:c.1232C>G	p.Ala411Gly	p.A411G	ENST00000379483	NM_032138.4	411	gCt/gGt	0	1	1	UPI0000071F8F	0	NA	ENST00000379483		ENSG00000120696	25266		64	1.355		HGNC	p.A411G		KBTBD7		SNV							ENST00000379483	protein_coding	getma.org/?cm=var&var=hg19,13,41767162,G,C&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF132,SMART_domains:SM00612		A/G		C	low	1541/4734		getma.org/?cm=msa&ty=f&p=KBTB7_HUMAN&rb=279&re=423&var=A411G	tolerated(0.13)	B4DS80_HUMAN			YES	KBTBD7,missense_variant,p.Ala411Gly,ENST00000379483,NM_032138.4;							MODERATE	1232/2055	A411G	KBTB7_HUMAN			Transcript		benign(0.008)	.	ENSP00000368797		CCDS9377.1			1	
SLC26A5	0	LGGM	GRCh37	7	103018172	103018172	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	31	23	.	.	ENST00000306312.3:c.1860G>A	p.Val620=	p.V620=	ENST00000306312	NM_198999.2	620	gtG/gtA	0	1	1	UPI0000132195	0		ENST00000306312		ENSG00000170615	9359		54			HGNC	p.V620V		SLC26A5		SNV			1				ENST00000306312	protein_coding			Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF32,TIGRFAM_domain:TIGR00815		V		T		2122/2689				Q496J1_HUMAN			YES	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.=,ENST00000354356,;SLC26A5,synonymous_variant,p.=,ENST00000393723,;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,;							LOW	1860/2235		S26A5_HUMAN			Transcript			.	ENSP00000304783		CCDS5733.1			1	
PARP8	0	LGGM	GRCh37	5	50118217	50118217	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081077	H081077N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	32	24	.	.	ENST00000281631.5:c.1843A>G	p.Ile615Val	p.I615V	ENST00000281631	NM_024615.3	615	Atc/Gtc	0	1	1	UPI0000073D19	0	NA	ENST00000281631		ENSG00000151883	26124		56	0.805		HGNC	p.I573V	rs772159418	PARP8		SNV							ENST00000503750	protein_coding	getma.org/?cm=var&var=hg19,5,50118217,A,G&fts=all		hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3		I/V		G	low	2001/7177	1.50E-05	getma.org/?cm=msa&ty=f&p=PARP8_HUMAN&rb=498&re=674&var=I615V	tolerated(0.2)	D6RGZ9_HUMAN			YES	PARP8,missense_variant,p.Ile615Val,ENST00000281631,NM_024615.3,NM_001178056.1;PARP8,missense_variant,p.Ile573Val,ENST00000503750,;PARP8,missense_variant,p.Ile594Val,ENST00000505554,;PARP8,missense_variant,p.Ile573Val,ENST00000514067,;PARP8,missense_variant,p.Ile615Val,ENST00000505697,NM_001178055.1;PARP8,missense_variant,p.Ile326Val,ENST00000514342,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,3_prime_UTR_variant,,ENST00000515166,;							MODERATE	1843/2565	I615V	PARP8_HUMAN			Transcript		benign(0.348)	.	ENSP00000281631	8.24E-06	CCDS3954.1			1	
CSHL1	0	LGGM	GRCh37	17	61987306	61987306	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	43	25	.	.	ENST00000309894.5:c.472-38A>T		*158*	ENST00000309894	NM_022579.1			0	1	1	UPI00001602B9	0		ENST00000309894		ENSG00000204414	2442		68			HGNC	p.P135P		CSHL1		SNV							ENST00000450719	protein_coding							A		-/669				I6L999_HUMAN			YES	CSHL1,synonymous_variant,p.=,ENST00000450719,;CSHL1,synonymous_variant,p.=,ENST00000561003,;CSHL1,3_prime_UTR_variant,,ENST00000392824,;CSHL1,intron_variant,,ENST00000259003,;CSHL1,intron_variant,,ENST00000309894,NM_022579.1;CSHL1,intron_variant,,ENST00000346606,NM_001318.2;CSHL1,intron_variant,,ENST00000438387,NM_022580.1,NM_022581.1;CSHL1,non_coding_transcript_exon_variant,,ENST00000558099,;CSHL1,non_coding_transcript_exon_variant,,ENST00000560999,;CSHL1,intron_variant,,ENST00000558609,;							MODIFIER	-/669		CSHL_HUMAN			Transcript			.	ENSP00000309524		CCDS11652.1			1	
TP53INP1	0	LGGM	GRCh37	8	95942786	95942786	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	85	25	.	.	ENST00000342697.4:c.644C>A	p.Thr215Asn	p.T215N	ENST00000342697	NM_033285.3	215	aCc/aAc	0	1	1	UPI00000725F8	0	NA	ENST00000342697		ENSG00000164938	18022		110	1.59		HGNC	p.T215N		TP53INP1		SNV							ENST00000342697	protein_coding	getma.org/?cm=var&var=hg19,8,95942786,G,T&fts=all		Pfam_domain:PF14839,hmmpanther:PTHR31671,hmmpanther:PTHR31671:SF0		T/N		T	low	1052/5638		getma.org/?cm=msa&ty=f&p=T53I1_HUMAN&rb=205&re=238&var=T215N	tolerated(0.17)				YES	TP53INP1,missense_variant,p.Thr215Asn,ENST00000342697,NM_033285.3;TP53INP1,splice_region_variant,,ENST00000378776,;TP53INP1,3_prime_UTR_variant,,ENST00000448464,NM_001135733.1;NDUFAF6,intron_variant,,ENST00000396113,;NDUFAF6,intron_variant,,ENST00000523378,;NDUFAF6,intron_variant,,ENST00000519136,;							MODERATE	644/723	T215N	T53I1_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000344215		CCDS6265.1			1	
MUC17	0	LGGM	GRCh37	7	100677945	100677945	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	337	29	.	.	ENST00000306151.4:c.3248C>T	p.Ser1083Phe	p.S1083F	ENST00000306151	NM_001040105.1	1083	tCt/tTt	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		366	0		HGNC	p.S1083F		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100677945,C,T&fts=all		Low_complexity_(Seg):seg		S/F		T	neutral	3312/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=S1083F		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Ser1083Phe,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser1083Phe,ENST00000379439,;							MODERATE	3248/13482	S1083F	MUC17_HUMAN			Transcript		benign(0.002)	.	ENSP00000302716		CCDS34711.1			1	
ZNF564	0	LGGM	GRCh37	19	12637511	12637511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	55	30	.	.	ENST00000339282.7:c.1411C>T	p.His471Tyr	p.H471Y	ENST00000339282	NM_144976.3	471	Cat/Tat	0	1	1	UPI0000051C17	0	getma.org/pdb.php?prot=ZN564_HUMAN&from=463&to=488&var=H471Y	ENST00000339282		ENSG00000249709	31106		85	3.41		HGNC	p.H471Y		ZNF564		SNV							ENST00000339282	protein_coding	getma.org/?cm=var&var=hg19,19,12637511,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF10,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/Y		A	medium	1608/2935		getma.org/?cm=msa&ty=f&p=ZN564_HUMAN&rb=443&re=508&var=H471Y	deleterious(0)	M0QZN8_HUMAN			YES	ZNF564,missense_variant,p.His471Tyr,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,;							MODERATE	1411/1662	H471Y	ZN564_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340004		CCDS42505.1			1	
HS3ST4	0	LGGM	GRCh37	16	26146990	26146990	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	81	31	.	.	ENST00000331351.5:c.792C>T	p.Tyr264=	p.Y264=	ENST00000331351	NM_006040.2	264	taC/taT	0	1	1	UPI000040938A	0		ENST00000331351		ENSG00000182601	5200	0.000693	112			HGNC	p.Y264Y	rs761835607	HS3ST4		SNV							ENST00000331351	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF11,Superfamily_domains:SSF52540		Y		T		1184/3203				A5H458_HUMAN			YES	HS3ST4,synonymous_variant,p.=,ENST00000331351,NM_006040.2;HS3ST4,non_coding_transcript_exon_variant,,ENST00000475436,;							LOW	792/1371		HS3S4_HUMAN			Transcript			common_variant	ENSP00000330606	6.62E-05	CCDS53995.1			1	
MYOM1	0	LGGM	GRCh37	18	3164323	3164323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	67	31	.	.	ENST00000356443.4:c.1454G>T	p.Arg485Leu	p.R485L	ENST00000356443	NM_019856.1	485	cGg/cTg	0	1	1	UPI000022A657	0	getma.org/pdb.php?prot=MYOM1_HUMAN&from=405&to=499&var=R485L	ENST00000356443		ENSG00000101605	7613		98	0.55		HGNC	p.R485L	rs376821263	MYOM1		SNV	T:0						ENST00000356443	protein_coding	getma.org/?cm=var&var=hg19,18,3164323,C,A&fts=all		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		R/L	T:0.0001	A	neutral	1788/5847	5.31E-05	getma.org/?cm=msa&ty=f&p=MYOM1_HUMAN&rb=405&re=499&var=R485L	tolerated(0.71)				YES	MYOM1,missense_variant,p.Arg485Leu,ENST00000400569,;MYOM1,missense_variant,p.Arg485Leu,ENST00000356443,NM_019856.1,NM_003803.3;MYOM1,missense_variant,p.Arg485Leu,ENST00000261606,;							MODERATE	1454/5058	R485L	MYOM1_HUMAN			Transcript		benign(0.078)	.	ENSP00000348821	2.48E-05	CCDS45824.1			1	
PSMC3	0	LGGM	GRCh37	11	47445636	47445636	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081077	H081077N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	68	32	.	.	ENST00000298852.3:c.552A>G	p.Gln184=	p.Q184=	ENST00000298852	NM_002804.4	184	caA/caG	0	1	1	UPI0000132389	0		ENST00000298852		ENSG00000165916	9549		100			HGNC	p.Q128Q		PSMC3		SNV							ENST00000531051	protein_coding			hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF7,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		Q		C		710/1544				R4GNH3_HUMAN			YES	PSMC3,synonymous_variant,p.=,ENST00000298852,NM_002804.4;PSMC3,synonymous_variant,p.=,ENST00000530912,;PSMC3,synonymous_variant,p.=,ENST00000602866,;PSMC3,synonymous_variant,p.=,ENST00000530651,;PSMC3,synonymous_variant,p.=,ENST00000531051,;PSMC3,intron_variant,,ENST00000524447,;PSMC3,downstream_gene_variant,,ENST00000526993,;PSMC3,3_prime_UTR_variant,,ENST00000530887,;PSMC3,3_prime_UTR_variant,,ENST00000527906,;PSMC3,downstream_gene_variant,,ENST00000529500,;PSMC3,downstream_gene_variant,,ENST00000528362,;PSMC3,downstream_gene_variant,,ENST00000531653,;							LOW	552/1320		PRS6A_HUMAN			Transcript			.	ENSP00000298852		CCDS7935.1			1	
LMX1A	0	LGGM	GRCh37	1	165182889	165182889	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	32	42	.	.	ENST00000342310.3:c.658C>A	p.Pro220Thr	p.P220T	ENST00000342310	NM_177398.3	220	Ccc/Acc	0	1		UPI000012E793	0	getma.org/pdb.php?prot=LMX1A_HUMAN&from=196&to=252&var=P220T	ENST00000294816		ENSG00000162761	6653		74	3.465		HGNC	p.P220T		LMX1A		SNV							ENST00000367893	protein_coding	getma.org/?cm=var&var=hg19,1,165182889,G,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88,SMART_domains:SM00389,Superfamily_domains:SSF46689		P/T		T	medium	852/3350		getma.org/?cm=msa&ty=f&p=LMX1A_HUMAN&rb=196&re=252&var=P220T	deleterious(0)	Q6NZ39_HUMAN				LMX1A,missense_variant,p.Pro220Thr,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Pro220Thr,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Pro220Thr,ENST00000367893,;RP11-38C18.2,downstream_gene_variant,,ENST00000457106,;RP11-38C18.3,upstream_gene_variant,,ENST00000441773,;RP11-38C18.3,upstream_gene_variant,,ENST00000426178,;LMX1A,upstream_gene_variant,,ENST00000489443,;							MODERATE	658/1149	P220T	LMX1A_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000294816		CCDS1247.1			1	
MGAM	0	LGGM	GRCh37	7	141765573	141765573	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	75	51	.	.	ENST00000549489.2:c.4618+305G>A		*1540*	ENST00000549489	NM_004668.2			0	1	1	UPI000183CB7B	0		ENST00000549489		ENSG00000257335	7043		126			HGNC	p.W1571X		MGAM		SNV							ENST00000475668	protein_coding							A		-/6525				Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,stop_gained,p.Trp1571Ter,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;							MODIFIER	-/5574		MGA_HUMAN			Transcript			.	ENSP00000447378		CCDS47727.1			1	
PPFIA1	0	LGGM	GRCh37	11	70172710	70172710	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081077	H081077N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	125	52	.	.	ENST00000253925.7:c.716C>A	p.Ser239Tyr	p.S239Y	ENST00000253925	NM_003626.3	239	tCt/tAt	0	1	1	UPI0000072426	0	NA	ENST00000253925		ENSG00000131626	9245		177	1.79		HGNC	p.S239Y		PPFIA1		SNV							ENST00000389547	protein_coding	getma.org/?cm=var&var=hg19,11,70172710,C,A&fts=all		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15		S/Y		A	low	931/5234		getma.org/?cm=msa&ty=f&p=LIPA1_HUMAN&rb=181&re=253&var=S239Y	deleterious(0)	E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN			YES	PPFIA1,missense_variant,p.Ser239Tyr,ENST00000253925,NM_003626.3;PPFIA1,missense_variant,p.Ser239Tyr,ENST00000389547,NM_177423.2;PPFIA1,downstream_gene_variant,,ENST00000530746,;PPFIA1,downstream_gene_variant,,ENST00000532024,;AP000487.6,intron_variant,,ENST00000528607,;CTA-797E19.2,intron_variant,,ENST00000526017,;PPFIA1,upstream_gene_variant,,ENST00000530932,;PPFIA1,missense_variant,p.Ser239Tyr,ENST00000532504,;PPFIA1,missense_variant,p.Ser10Tyr,ENST00000526262,;PPFIA1,upstream_gene_variant,,ENST00000525530,;							MODERATE	716/3609	S239Y	LIPA1_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000253925		CCDS31627.1			1	
YLPM1	0	LGGM	GRCh37	14	75266034	75266034	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081077	H081077N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081077N.bam, H081077T.bam	Illumina HiSeq	149	56	.	.	ENST00000325680.7:c.4034G>A	p.Arg1345Lys	p.R1345K	ENST00000325680	NM_019589.2	1345	aGa/aAa	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		205	1.61		HGNC	p.R898K		YLPM1		SNV							ENST00000549293	protein_coding	getma.org/?cm=var&var=hg19,14,75266034,G,A&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0,Low_complexity_(Seg):seg		R/K		A	low	4158/7017		getma.org/?cm=msa&ty=f&p=YLPM1_HUMAN&rb=541&re=1282&var=R1150K		B4DMQ9_HUMAN			YES	YLPM1,missense_variant,p.Arg1345Lys,ENST00000325680,NM_019589.2;YLPM1,missense_variant,p.Arg1150Lys,ENST00000238571,;YLPM1,intron_variant,,ENST00000552421,;YLPM1,missense_variant,p.Arg898Lys,ENST00000549293,;							MODERATE	4034/6441	R1150K	YLPM1_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000324463		CCDS45135.1			1	
DNM1L	0	LGGM	GRCh37	12	32890087	32890087	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	10	2	.	.	ENST00000549701.1:c.1588C>A	p.Arg530=	p.R530=	ENST00000549701		530	Cga/Aga	0	1	1	UPI00000721A1	0		ENST00000549701		ENSG00000087470	2973		12			HGNC	p.R543R		DNM1L		SNV			1				ENST00000553257	protein_coding			hmmpanther:PTHR11566:SF39,hmmpanther:PTHR11566		R		A		1662/2487				D3DUW5_HUMAN			YES	DNM1L,synonymous_variant,p.=,ENST00000452533,NM_012062.4,NM_012063.3;DNM1L,synonymous_variant,p.=,ENST00000381000,NM_001278465.1;DNM1L,synonymous_variant,p.=,ENST00000358214,;DNM1L,synonymous_variant,p.=,ENST00000266481,NM_005690.4;DNM1L,synonymous_variant,p.=,ENST00000553257,NM_001278464.1;DNM1L,synonymous_variant,p.=,ENST00000549701,;DNM1L,synonymous_variant,p.=,ENST00000547312,NM_001278463.1;DNM1L,synonymous_variant,p.=,ENST00000414834,NM_001278466.1;YARS2,intron_variant,,ENST00000551673,;DNM1L,3_prime_UTR_variant,,ENST00000546757,;DNM1L,3_prime_UTR_variant,,ENST00000546649,;DNM1L,3_prime_UTR_variant,,ENST00000547078,;DNM1L,non_coding_transcript_exon_variant,,ENST00000552743,;DNM1L,non_coding_transcript_exon_variant,,ENST00000550093,;DNM1L,non_coding_transcript_exon_variant,,ENST00000548151,;DNM1L,upstream_gene_variant,,ENST00000553031,;DNM1L,upstream_gene_variant,,ENST00000547640,;DNM1L,upstream_gene_variant,,ENST00000549157,;							LOW	1588/2211		DNM1L_HUMAN			Transcript			.	ENSP00000450399		CCDS8729.1			1	
SP6	0	LGGM	GRCh37	17	45925688	45925688	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	4	2	.	.	ENST00000536300.1:c.108G>T	p.Thr36=	p.T36=	ENST00000536300	NM_001258248.1	36	acG/acT	0	1		UPI000022A416	0		ENST00000342234		ENSG00000189120	14530		6			HGNC	p.T36T		SP6		SNV							ENST00000342234	protein_coding			hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF138		T		A		386/3795								SP6,synonymous_variant,p.=,ENST00000536300,NM_001258248.1;SP6,synonymous_variant,p.=,ENST00000342234,NM_199262.2;							LOW	108/1131		SP6_HUMAN			Transcript			.	ENSP00000340799		CCDS11520.1			1	
SERPINB11	0	LGGM	GRCh37	18	61388202	61388202	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	3	2	.	.	ENST00000544088.1:c.756C>A	p.Gly252=	p.G252=	ENST00000544088	NM_080475.2	252	ggC/ggA	0	1	1	UPI00015AAB67	0		ENST00000544088		ENSG00000206072	14221		5			HGNC	p.G77G		SERPINB11		SNV							ENST00000536691	protein_coding			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF137,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		G		A		818/1731				F5GYW9_HUMAN,F5GWT8_HUMAN			YES	SERPINB11,synonymous_variant,p.=,ENST00000544088,NM_080475.2;SERPINB11,synonymous_variant,p.=,ENST00000536691,;SERPINB11,intron_variant,,ENST00000538847,;SERPINB11,downstream_gene_variant,,ENST00000489748,;SERPINB11,downstream_gene_variant,,ENST00000467649,;SERPINB11,synonymous_variant,p.=,ENST00000382749,;							LOW	756/1179					Transcript			.	ENSP00000441497					1	
CEBPB	0	LGGM	GRCh37	20	48808547	48808547	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	5	2	.	.	ENST00000303004.3:c.977C>G	p.Thr326Ser	p.T326S	ENST00000303004	NM_005194.3	326	aCc/aGc	0	1	1	UPI000000D8BA	0	getma.org/pdb.php?prot=CEBPB_HUMAN&from=306&to=334&var=T326S	ENST00000303004		ENSG00000172216	1834		7	1.75		HGNC	p.T326S		CEBPB		SNV							ENST00000303004	protein_coding	getma.org/?cm=var&var=hg19,20,48808547,C,G&fts=all		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,PIRSF_domain:PIRSF005879,PROSITE_profiles:PS50217,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF21,SMART_domains:SM00338,Superfamily_domains:SSF57959		T/S		G	low	1172/1837		getma.org/?cm=msa&ty=f&p=CEBPB_HUMAN&rb=286&re=345&var=T326S	deleterious(0)	Q9BSC0_HUMAN			YES	CEBPB,missense_variant,p.Thr326Ser,ENST00000303004,NM_005194.3,NM_001285879.1,NM_001285878.1;							MODERATE	977/1038	T326S	CEBPB_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000305422		CCDS13429.1			1	
SP9	0	LGGM	GRCh37	2	175202020	175202020	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	5	2	.	.	ENST00000394967.2:c.1207C>T	p.Arg403Cys	p.R403C	ENST00000394967	NM_001145250.1	403	Cgc/Tgc	0	1	1	UPI0000EE2E67	0	getma.org/pdb.php?prot=SP9_HUMAN&from=402&to=412&var=R403C	ENST00000394967		ENSG00000217236	30690		7	1.085		HGNC	p.R403C		SP9		SNV							ENST00000394967	protein_coding	getma.org/?cm=var&var=hg19,2,175202020,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF152,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/C		T	low	1354/2554		getma.org/?cm=msa&ty=f&p=SP9_HUMAN&rb=372&re=442&var=R403C	deleterious(0)				YES	SP9,missense_variant,p.Arg403Cys,ENST00000394967,NM_001145250.1;AC018470.1,synonymous_variant,p.=,ENST00000595354,;							MODERATE	1207/1455	R403C	SP9_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000378418		CCDS46453.1			1	
MAST3	0	LGGM	GRCh37	19	18235159	18235159	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	11	2	.	.	ENST00000262811.6:c.841C>A	p.Arg281=	p.R281=	ENST00000262811	NM_015016.1	281	Cgg/Agg	0	1	1	UPI00001D8275	0		ENST00000262811		ENSG00000099308	19036		13			HGNC	p.R281R		MAST3		SNV							ENST00000262811	protein_coding			Superfamily_domains:0050107,Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF140		R		A		841/5896							YES	MAST3,synonymous_variant,p.=,ENST00000262811,NM_015016.1;MAST3,non_coding_transcript_exon_variant,,ENST00000608648,;MAST3,downstream_gene_variant,,ENST00000601226,;							LOW	841/3930		MAST3_HUMAN			Transcript			.	ENSP00000262811		CCDS46014.1			1	
NBPF10	0	LGGM	GRCh37	1	145354330	145354330	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	12	2	.	.	ENST00000342960.5:c.8258A>G	p.Glu2753Gly	p.E2753G	ENST00000342960	NM_001039703.5	2753	gAa/gGa	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		14	2.3		HGNC	p.E555G		NBPF10		SNV							ENST00000448873	protein_coding	getma.org/?cm=var&var=hg19,1,145354330,A,G&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		E/G		G	medium	8293/10697		getma.org/?cm=msa&ty=f&p=Q8IX74_HUMAN&rb=627&re=693&var=E648G		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Glu2753Gly,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Glu359Gly,ENST00000369339,;NBPF10,missense_variant,p.Glu615Gly,ENST00000605176,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369338,;NBPF10,3_prime_UTR_variant,,ENST00000490598,;							MODERATE	8258/10662	E648G				Transcript		probably_damaging(0.989)	.	ENSP00000345684					1	
LMBR1L	0	LGGM	GRCh37	12	49498502	49498502	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	2	2	.	.	ENST00000267102.8:c.331+27G>T		*111*	ENST00000267102	NM_018113.2			0	1	1	UPI0000071212	0		ENST00000267102		ENSG00000139636	18268		4			HGNC	p.G108G		LMBR1L		SNV							ENST00000457164	protein_coding							A		-/2349				F8VVE2_HUMAN			YES	LMBR1L,intron_variant,,ENST00000267102,NM_018113.2;LMBR1L,intron_variant,,ENST00000547382,;LMBR1L,intron_variant,,ENST00000395141,;LMBR1L,intron_variant,,ENST00000547675,;LMBR1L,intron_variant,,ENST00000551782,;LMBR1L,intron_variant,,ENST00000551854,;LMBR1L,intron_variant,,ENST00000550137,;LMBR1L,upstream_gene_variant,,ENST00000547698,;LMBR1L,upstream_gene_variant,,ENST00000552449,;LMBR1L,intron_variant,,ENST00000553204,;LMBR1L,intron_variant,,ENST00000552153,;LMBR1L,downstream_gene_variant,,ENST00000548983,;LMBR1L,upstream_gene_variant,,ENST00000549429,;LMBR1L,splice_region_variant,p.=,ENST00000457164,;LMBR1L,intron_variant,,ENST00000550867,;LMBR1L,intron_variant,,ENST00000417750,;LMBR1L,intron_variant,,ENST00000547670,;LMBR1L,intron_variant,,ENST00000551169,;LMBR1L,intron_variant,,ENST00000549730,;LMBR1L,intron_variant,,ENST00000549296,;LMBR1L,intron_variant,,ENST00000549587,;LMBR1L,upstream_gene_variant,,ENST00000552577,;LMBR1L,upstream_gene_variant,,ENST00000547813,;LMBR1L,downstream_gene_variant,,ENST00000551115,;LMBR1L,downstream_gene_variant,,ENST00000551535,;LMBR1L,upstream_gene_variant,,ENST00000553040,;LMBR1L,upstream_gene_variant,,ENST00000552141,;LMBR1L,upstream_gene_variant,,ENST00000551143,;LMBR1L,upstream_gene_variant,,ENST00000552879,;LMBR1L,downstream_gene_variant,,ENST00000550815,;LMBR1L,upstream_gene_variant,,ENST00000551272,;							MODIFIER	-/1470		LMBRL_HUMAN			Transcript			.	ENSP00000267102		CCDS8780.2			1	
LAMB4	0	LGGM	GRCh37	7	107744943	107744943	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	42	3	.	.	ENST00000388781.3:c.991+1G>T		p.X331_splice	ENST00000388781	NM_007356.2			0	1		UPI0000198CD5	0		ENST00000205386		ENSG00000091128	6491		45			HGNC	-		LAMB4		SNV							ENST00000205386	protein_coding							A		-/5857				C9JM08_HUMAN				LAMB4,splice_donor_variant,,ENST00000388781,NM_007356.2;LAMB4,splice_donor_variant,,ENST00000205386,;LAMB4,splice_donor_variant,,ENST00000388780,;LAMB4,splice_donor_variant,,ENST00000418464,;LAMB4,splice_donor_variant,,ENST00000414450,;LAMB4,splice_donor_variant,,ENST00000475469,;							HIGH	991/5286		LAMB4_HUMAN			Transcript			.	ENSP00000205386		CCDS34732.1			1	
NUP188	0	LGGM	GRCh37	9	131755864	131755864	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	34	3	.	.	ENST00000372577.2:c.2908C>A	p.Gln970Lys	p.Q970K	ENST00000372577	NM_015354.2	970	Cag/Aag	0	1	1	UPI000041A60F	0	NA	ENST00000372577		ENSG00000095319	17859		37	1.24		HGNC	p.Q970K		NUP188		SNV							ENST00000372577	protein_coding	getma.org/?cm=var&var=hg19,9,131755864,C,A&fts=all		hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Superfamily_domains:SSF48371		Q/K		A	low	2929/5689		getma.org/?cm=msa&ty=f&p=NU188_HUMAN&rb=945&re=1144&var=Q970K	tolerated(0.95)				YES	NUP188,missense_variant,p.Gln970Lys,ENST00000372577,NM_015354.2;NUP188,non_coding_transcript_exon_variant,,ENST00000467044,;NUP188,downstream_gene_variant,,ENST00000491502,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,upstream_gene_variant,,ENST00000495726,;NUP188,upstream_gene_variant,,ENST00000485158,;							MODERATE	2908/5250	Q970K	NU188_HUMAN			Transcript		benign(0.008)	.	ENSP00000361658		CCDS35156.1			1	
IQSEC3	0	LGGM	GRCh37	12	250386	250386	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	36	3	.	.	ENST00000538872.1:c.2088C>A	p.Leu696=	p.L696=	ENST00000538872		696	ctC/ctA	0	1	1	UPI0000DBEEF0	0		ENST00000538872		ENSG00000120645	29193		39			HGNC	p.L393L		IQSEC3		SNV							ENST00000382841	protein_coding			PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF62,hmmpanther:PTHR10663,Gene3D:1.10.220.20,Pfam_domain:PF01369,SMART_domains:SM00222,Superfamily_domains:SSF48425		L		A		2206/7094							YES	IQSEC3,synonymous_variant,p.=,ENST00000538872,;IQSEC3,synonymous_variant,p.=,ENST00000326261,NM_001170738.1;IQSEC3,synonymous_variant,p.=,ENST00000382841,NM_015232.1;RP11-598F7.4,non_coding_transcript_exon_variant,,ENST00000508953,;RP11-598F7.4,non_coding_transcript_exon_variant,,ENST00000505893,;							LOW	2088/3549		IQEC3_HUMAN			Transcript			.	ENSP00000437554		CCDS53728.1			1	
RNASE9	0	LGGM	GRCh37	14	21024774	21024774	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	3	.	.	ENST00000404716.3:c.470C>A	p.Ala157Glu	p.A157E	ENST00000404716	NM_001110359.1	157	gCg/gAg	0	1		UPI000016087B	0	getma.org/pdb.php?prot=RNAS9_HUMAN&from=40&to=183&var=A152E	ENST00000338904		ENSG00000188655	20673		28	0.69		HGNC	p.A157E		RNASE9		SNV							ENST00000557209	protein_coding	getma.org/?cm=var&var=hg19,14,21024774,G,T&fts=all		hmmpanther:PTHR11437:SF14,hmmpanther:PTHR11437,Pfam_domain:PF00074,Gene3D:3.10.130.10,Superfamily_domains:SSF54076		A/E		T	neutral	527/1049		getma.org/?cm=msa&ty=f&p=RNAS9_HUMAN&rb=40&re=183&var=A152E	tolerated(0.78)					RNASE9,missense_variant,p.Ala152Glu,ENST00000557068,;RNASE9,missense_variant,p.Ala152Glu,ENST00000555230,;RNASE9,missense_variant,p.Ala157Glu,ENST00000404716,NM_001110359.1;RNASE9,missense_variant,p.Ala157Glu,ENST00000556208,NM_001110360.1;RNASE9,missense_variant,p.Ala157Glu,ENST00000553706,NM_001110361.1;RNASE9,missense_variant,p.Ala157Glu,ENST00000557209,NM_001110358.1;RNASE9,missense_variant,p.Ala152Glu,ENST00000553541,;RNASE9,missense_variant,p.Ala152Glu,ENST00000554964,NM_001110356.1;RNASE9,missense_variant,p.Ala152Glu,ENST00000429244,NM_001110357.1;RNASE9,missense_variant,p.Ala152Glu,ENST00000338904,NM_001001673.3;							MODERATE	455/618	A152E	RNAS9_HUMAN			Transcript		benign(0.007)	.	ENSP00000340162		CCDS32036.1			1	
OR10A7	0	LGGM	GRCh37	12	55615513	55615513	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	3	.	.	ENST00000326258.1:c.705G>T	p.Gln235His	p.Q235H	ENST00000326258	NM_001005280.1	235	caG/caT	0	1	1	UPI0000041E35	0	NA	ENST00000326258		ENSG00000179919	15329		23	-0.5		HGNC	p.Q235H		OR10A7		SNV							ENST00000326258	protein_coding	getma.org/?cm=var&var=hg19,12,55615513,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF22,Superfamily_domains:SSF81321		Q/H		T	neutral	705/951		getma.org/?cm=msa&ty=f&p=O10A7_HUMAN&rb=139&re=283&var=Q235H	tolerated(0.78)				YES	OR10A7,missense_variant,p.Gln235His,ENST00000326258,NM_001005280.1;							MODERATE	705/951	Q235H	O10A7_HUMAN			Transcript		benign(0.003)	.	ENSP00000326718		CCDS31815.1			1	
YIPF6	0	LGGM	GRCh37	X	67733201	67733201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	3	.	.	ENST00000462683.1:c.219C>A	p.Phe73Leu	p.F73L	ENST00000462683	NM_173834.3	73	ttC/ttA	0	1	1	UPI000003778F	0	NA	ENST00000462683		ENSG00000181704	28304		23	1.14		HGNC	p.F30L		YIPF6		SNV							ENST00000451537	protein_coding	getma.org/?cm=var&var=hg19,X,67733201,C,A&fts=all		hmmpanther:PTHR21236:SF1,hmmpanther:PTHR21236,Pfam_domain:PF04893		F/L		A	low	963/6741		getma.org/?cm=msa&ty=f&p=YIPF6_HUMAN&rb=62&re=227&var=F73L	tolerated(0.08)				YES	YIPF6,missense_variant,p.Phe73Leu,ENST00000462683,NM_173834.3;YIPF6,missense_variant,p.Phe30Leu,ENST00000374622,NM_001195214.1;YIPF6,missense_variant,p.Phe30Leu,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,;							MODERATE	219/711	F73L	YIPF6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000417573		CCDS14389.1			1	
MRAP	0	LGGM	GRCh37	21	33684247	33684247	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	23	3	.	.	ENST00000399784.2:c.459C>A	p.Leu153=	p.L153=	ENST00000399784	NM_178817.3	153	ctC/ctA	0	1		UPI000013E8CC	0		ENST00000303645		ENSG00000170262	1304		26			HGNC	p.L153L		MRAP		SNV			1				ENST00000399784	protein_coding					L		A		581/935								MRAP,synonymous_variant,p.=,ENST00000399784,NM_178817.3;MRAP,synonymous_variant,p.=,ENST00000303645,;URB1,3_prime_UTR_variant,,ENST00000382751,NM_014825.2;MRAP,intron_variant,,ENST00000399786,NM_206898.1;MRAP,intron_variant,,ENST00000339944,;AP000266.7,upstream_gene_variant,,ENST00000450936,;MRAP,non_coding_transcript_exon_variant,,ENST00000497833,;							LOW	459/519		MRAP_HUMAN			Transcript			.	ENSP00000306697		CCDS13613.1			1	
SESN3	0	LGGM	GRCh37	11	94917614	94917614	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	46	3	.	.	ENST00000536441.1:c.907G>T	p.Gly303Ter	p.G303*	ENST00000536441	NM_144665.3	303	Gga/Tga	0	1	1	UPI0000135891	0	NA	ENST00000536441		ENSG00000149212	23060		49	0		HGNC	p.G303X		SESN3		SNV							ENST00000393234	protein_coding	getma.org/?cm=var&var=hg19,11,94917614,C,A&fts=all		hmmpanther:PTHR12474:SF4,hmmpanther:PTHR12474,Pfam_domain:PF04636		G/*		A	NA	1244/9531		NA					YES	SESN3,stop_gained,p.Gly303Ter,ENST00000536441,NM_144665.3;SESN3,stop_gained,p.Gly164Ter,ENST00000278499,NM_001271594.1;SESN3,stop_gained,p.Gly303Ter,ENST00000416495,;SESN3,stop_gained,p.Gly303Ter,ENST00000393234,;RP11-712B9.2,intron_variant,,ENST00000534891,;RP11-712B9.2,intron_variant,,ENST00000534864,;							HIGH	907/1479	G303*	SESN3_HUMAN			Transcript			.	ENSP00000441927		CCDS8303.1			1	
PAFAH1B2	0	LGGM	GRCh37	11	117038384	117038384	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	3	.	.	ENST00000527958.1:c.659C>A	p.Thr220Lys	p.T220K	ENST00000527958	NM_002572.3	220	aCa/aAa	0	1	1	UPI00001117F4	0	getma.org/pdb.php?prot=PA1B2_HUMAN&from=206&to=229&var=T220K	ENST00000527958		ENSG00000168092	8575		32	1.67		HGNC	p.T166K		PAFAH1B2		SNV							ENST00000304808	protein_coding	getma.org/?cm=var&var=hg19,11,117038384,C,A&fts=all		hmmpanther:PTHR11852		T/K		A	low	818/4195		getma.org/?cm=msa&ty=f&p=PA1B2_HUMAN&rb=176&re=229&var=T220K	tolerated(0.16)				YES	PAFAH1B2,missense_variant,p.Thr220Lys,ENST00000527958,NM_002572.3;PAFAH1B2,missense_variant,p.Thr166Lys,ENST00000304808,;PAFAH1B2,intron_variant,,ENST00000419197,NM_001184748.1;PAFAH1B2,intron_variant,,ENST00000529887,NM_001184747.1;PAFAH1B2,intron_variant,,ENST00000530272,NM_001184746.1;PAFAH1B2,intron_variant,,ENST00000526888,;PAFAH1B2,downstream_gene_variant,,ENST00000533206,;							MODERATE	659/690	T220K	PA1B2_HUMAN			Transcript		benign(0.066)	.	ENSP00000435289		CCDS8380.1			1	
LAMB3	0	LGGM	GRCh37	1	209790780	209790780	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	44	3	.	.	ENST00000391911.1:c.3203G>T	p.Ser1068Ile	p.S1068I	ENST00000391911	NM_001017402.1	1068	aGc/aTc	0	1		UPI000012E76F	0	NA	ENST00000356082		ENSG00000196878	6490		47	0.805		HGNC	p.S1068I		LAMB3		SNV			1				ENST00000356082	protein_coding	getma.org/?cm=var&var=hg19,1,209790780,C,A&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245		S/I		A	low	3338/4055		getma.org/?cm=msa&ty=f&p=LAMB3_HUMAN&rb=950&re=1170&var=S1068I	tolerated(0.1)	Q5THA1_HUMAN				LAMB3,missense_variant,p.Ser1068Ile,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.Ser1068Ile,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.Ser1068Ile,ENST00000367030,NM_001127641.1;LAMB3,missense_variant,p.Ser137Ile,ENST00000455193,;CAMK1G,downstream_gene_variant,,ENST00000009105,;CAMK1G,downstream_gene_variant,,ENST00000361322,NM_020439.2;							MODERATE	3203/3519	S1068I	LAMB3_HUMAN			Transcript		benign(0.008)	.	ENSP00000348384		CCDS1487.1			1	
OTOF	0	LGGM	GRCh37	2	26686964	26686964	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	33	3	.	.	ENST00000272371.2:c.4971G>T	p.Lys1657Asn	p.K1657N	ENST00000272371	NM_194248.2	1657	aaG/aaT	0	1	1	UPI000013D94D	0	NA	ENST00000272371		ENSG00000115155	8515		36	2.195		HGNC	p.K1657N		OTOF		SNV			1				ENST00000272371	protein_coding	getma.org/?cm=var&var=hg19,2,26686964,C,A&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32		K/N		A	medium	5098/7156		getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=1578&re=1777&var=K1657N	tolerated(0.16)				YES	OTOF,missense_variant,p.Lys1657Asn,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Lys1657Asn,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Lys967Asn,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Lys890Asn,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Lys890Asn,ENST00000339598,NM_194323.2;OTOF,non_coding_transcript_exon_variant,,ENST00000464574,;							MODERATE	4971/5994	K1657N	OTOF_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000272371		CCDS1725.1			1	
SP110	0	LGGM	GRCh37	2	231035381	231035381	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	36	3	.	.	ENST00000258381.6:c.1984C>A	p.Arg662=	p.R662=	ENST00000258381	NM_080424.2	662	Cga/Aga	0	1		UPI000013D98F	0		ENST00000358662		ENSG00000135899	5401		39			HGNC	p.R662R		SP110		SNV			1				ENST00000258381	protein_coding			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF46,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370		R		T		1991/2337				Q2I9M3_HUMAN,Q2I9M2_HUMAN,Q2I9M1_HUMAN,Q2I9M0_HUMAN,Q2I9L9_HUMAN,E9PHK4_HUMAN,E7EM70_HUMAN,C9JZQ4_HUMAN				SP110,synonymous_variant,p.=,ENST00000258381,NM_080424.2;SP110,synonymous_variant,p.=,ENST00000358662,NM_004509.3;AC009950.2,intron_variant,,ENST00000609120,;AC009950.2,upstream_gene_variant,,ENST00000595586,;AC009950.2,upstream_gene_variant,,ENST00000600787,;AC009950.2,upstream_gene_variant,,ENST00000594622,;AC009950.2,downstream_gene_variant,,ENST00000445199,;AC009950.2,upstream_gene_variant,,ENST00000454058,;SP110,non_coding_transcript_exon_variant,,ENST00000480916,;SP110,non_coding_transcript_exon_variant,,ENST00000463022,;SP110,intron_variant,,ENST00000477068,;SP110,intron_variant,,ENST00000483067,;							LOW	1912/2070		SP110_HUMAN			Transcript			.	ENSP00000351488		CCDS2474.1			1	
PRKDC	0	LGGM	GRCh37	8	48769727	48769727	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	37	3	.	.	ENST00000314191.2:c.6596C>T	p.Ala2199Val	p.A2199V	ENST00000314191	NM_006904.6	2199	gCc/gTc	0	1	1	UPI000045790C	0	NA	ENST00000314191		ENSG00000253729	9413		40	2.295		HGNC	p.A2199V		PRKDC		SNV			1				ENST00000338368	protein_coding	getma.org/?cm=var&var=hg19,8,48769727,G,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Gene3D:1.25.10.10,Pfam_domain:PF08163,Superfamily_domains:SSF48371		A/V		A	medium	6653/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=1813&re=2210&var=A2200V		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Ala2199Val,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Ala2199Val,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;							MODERATE	6596/12384	A2200V	PRKDC_HUMAN			Transcript		possibly_damaging(0.652)	.	ENSP00000313420					1	
VPS13A	0	LGGM	GRCh37	9	79980446	79980446	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	42	3	.	.	ENST00000360280.3:c.8282C>A	p.Ser2761Ter	p.S2761*	ENST00000360280	NM_033305.2	2761	tCa/tAa	0	1	1	UPI0000210B7A	0	NA	ENST00000360280		ENSG00000197969	1908		45	0		HGNC	p.S2761X		VPS13A		SNV			1				ENST00000360280	protein_coding	getma.org/?cm=var&var=hg19,9,79980446,C,A&fts=all		hmmpanther:PTHR16166,hmmpanther:PTHR16166:SF22		S/*		A	NA	8542/15320		NA					YES	VPS13A,stop_gained,p.Ser2761Ter,ENST00000360280,NM_033305.2;VPS13A,stop_gained,p.Ser2722Ter,ENST00000376636,NM_001018037.1;VPS13A,stop_gained,p.Ser2761Ter,ENST00000376634,NM_001018038.2;VPS13A,stop_gained,p.Ser2761Ter,ENST00000357409,NM_015186.3;							HIGH	8282/9525	S2761*	VP13A_HUMAN			Transcript			.	ENSP00000353422		CCDS6655.1			1	
TET1	0	LGGM	GRCh37	10	70404586	70404586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	41	3	.	.	ENST00000373644.4:c.2100C>A	p.Asp700Glu	p.D700E	ENST00000373644	NM_030625.2	700	gaC/gaA	0	1	1	UPI000013D114	0	NA	ENST00000373644		ENSG00000138336	29484		44	-0.55		HGNC	p.D700E		TET1		SNV							ENST00000373644	protein_coding	getma.org/?cm=var&var=hg19,10,70404586,C,A&fts=all		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2		D/E		A	neutral	2309/9288		getma.org/?cm=msa&ty=f&p=TET1_HUMAN&rb=638&re=1347&var=D700E	tolerated(1)				YES	TET1,missense_variant,p.Asp700Glu,ENST00000373644,NM_030625.2;							MODERATE	2100/6411	D700E	TET1_HUMAN			Transcript		benign(0)	.	ENSP00000362748		CCDS7281.1			1	
DLC1	0	LGGM	GRCh37	8	12957737	12957737	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	38	3	.	.	ENST00000276297.4:c.2109G>A	p.Met703Ile	p.M703I	ENST00000276297	NM_182643.2	703	atG/atA	0	1	1	UPI0000210275	0	NA	ENST00000276297		ENSG00000164741	2897		41	1.39		HGNC	p.M300I		DLC1		SNV							ENST00000512044	protein_coding	getma.org/?cm=var&var=hg19,8,12957737,C,T&fts=all		hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2		M/I		T	low	2519/7447		getma.org/?cm=msa&ty=f&p=RHG07_HUMAN&rb=558&re=1031&var=M703I	tolerated(0.34)				YES	DLC1,missense_variant,p.Met703Ile,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Met266Ile,ENST00000358919,NM_006094.4;DLC1,missense_variant,p.Met300Ile,ENST00000512044,;DLC1,missense_variant,p.Met192Ile,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,;							MODERATE	2109/4587	M703I	RHG07_HUMAN			Transcript		benign(0.001)	.	ENSP00000276297		CCDS5989.1			1	
SNX9	0	LGGM	GRCh37	6	158357013	158357013	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	45	3	.	.	ENST00000392185.3:c.1384G>T	p.Asp462Tyr	p.D462Y	ENST00000392185	NM_016224.4	462	Gat/Tat	0	1	1	UPI0000135B47	0	getma.org/pdb.php?prot=SNX9_HUMAN&from=358&to=593&var=D462Y	ENST00000392185		ENSG00000130340	14973		48	1.5		HGNC	p.D462Y		SNX9		SNV							ENST00000539592	protein_coding	getma.org/?cm=var&var=hg19,6,158357013,G,T&fts=all		hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF14,Pfam_domain:PF10456,PIRSF_domain:PIRSF027744		D/Y		T	low	1555/4198		getma.org/?cm=msa&ty=f&p=SNX9_HUMAN&rb=358&re=593&var=D462Y	deleterious(0)	B3KXH8_HUMAN			YES	SNX9,missense_variant,p.Asp462Tyr,ENST00000392185,NM_016224.4;RNU6-786P,downstream_gene_variant,,ENST00000516849,;							MODERATE	1384/1788	D462Y	SNX9_HUMAN			Transcript		possibly_damaging(0.5)	.	ENSP00000376024		CCDS5253.1			1	
TRAF5	0	LGGM	GRCh37	1	211534439	211534439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	18	3	.	.	ENST00000261464.5:c.631C>A	p.His211Asn	p.H211N	ENST00000261464	NM_001033910.2	211	Cac/Aac	0	1	1	UPI0000070955	0	NA	ENST00000261464		ENSG00000082512	12035		21	3.815		HGNC	p.H211N		TRAF5		SNV							ENST00000261464	protein_coding	getma.org/?cm=var&var=hg19,1,211534439,C,A&fts=all		PROSITE_profiles:PS50145,hmmpanther:PTHR10131:SF66,hmmpanther:PTHR10131,Gene3D:1k2fA02,Pfam_domain:PF02176,PIRSF_domain:PIRSF015614,Superfamily_domains:SSF49599		H/N		A	high	685/3972		getma.org/?cm=msa&ty=f&p=TRAF5_HUMAN&rb=183&re=241&var=H211N	deleterious(0.01)	D3DT93_HUMAN,B4E0A2_HUMAN,B3KX26_HUMAN			YES	TRAF5,missense_variant,p.His211Asn,ENST00000336184,NM_004619.3;TRAF5,missense_variant,p.His211Asn,ENST00000261464,NM_001033910.2;TRAF5,missense_variant,p.His211Asn,ENST00000367004,NM_145759.2;TRAF5,intron_variant,,ENST00000427925,;TRAF5,non_coding_transcript_exon_variant,,ENST00000462410,;TRAF5,non_coding_transcript_exon_variant,,ENST00000488428,;							MODERATE	631/1674	H211N	TRAF5_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000261464		CCDS1497.1			1	
CC2D1A	0	LGGM	GRCh37	19	14034220	14034220	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	18	3	.	.	ENST00000318003.7:c.1716C>A	p.Ala572=	p.A572=	ENST00000318003	NM_017721.4	572	gcC/gcA	0	1	1	UPI0000203524	0		ENST00000318003		ENSG00000132024	30237		21			HGNC	p.A572A		CC2D1A		SNV			1				ENST00000589606	protein_coding			hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7		A		A		1957/3581							YES	CC2D1A,synonymous_variant,p.=,ENST00000318003,NM_017721.4;CC2D1A,synonymous_variant,p.=,ENST00000589606,;CC2D1A,synonymous_variant,p.=,ENST00000587508,;CC2D1A,missense_variant,p.Arg374Ser,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589138,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000588932,;CC2D1A,downstream_gene_variant,,ENST00000585896,;CC2D1A,upstream_gene_variant,,ENST00000589224,;CC2D1A,downstream_gene_variant,,ENST00000589679,;							LOW	1716/2856		C2D1A_HUMAN			Transcript			.	ENSP00000313601		CCDS42512.1			1	
PPRC1	0	LGGM	GRCh37	10	103900926	103900926	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	19	3	.	.	ENST00000278070.2:c.2661C>A	p.Gly887=	p.G887=	ENST00000278070	NM_015062.3	887	ggC/ggA	0	1	1	UPI000013DB5C	0		ENST00000278070		ENSG00000148840	30025		22			HGNC	p.G887G		PPRC1		SNV							ENST00000413464	protein_coding			hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF5,Low_complexity_(Seg):seg		G		A		2700/5330							YES	PPRC1,synonymous_variant,p.=,ENST00000278070,NM_015062.3,NM_001288728.1;PPRC1,synonymous_variant,p.=,ENST00000413464,NM_001288727.1;PPRC1,upstream_gene_variant,,ENST00000370012,;PPRC1,upstream_gene_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000462933,;							LOW	2661/4995		PPRC1_HUMAN			Transcript			.	ENSP00000278070		CCDS7529.1			1	
RABGAP1	0	LGGM	GRCh37	9	125838969	125838969	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	35	3	.	.	ENST00000373647.4:c.2352G>A	p.Arg784=	p.R784=	ENST00000373647	NM_012197.3	784	agG/agA	0	1	1	UPI00000373F8	0		ENST00000373647		ENSG00000011454	17155		38			HGNC	p.R123R		RABGAP1		SNV							ENST00000373643	protein_coding			Gene3D:1.10.10.60,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF208,Superfamily_domains:SSF47923		R		A		2486/4997				B7Z2B4_HUMAN,B5MCD9_HUMAN			YES	RABGAP1,synonymous_variant,p.=,ENST00000373647,NM_012197.3;RABGAP1,synonymous_variant,p.=,ENST00000373643,;RABGAP1,downstream_gene_variant,,ENST00000493854,;RABGAP1,downstream_gene_variant,,ENST00000475607,;RABGAP1,3_prime_UTR_variant,,ENST00000456584,;RABGAP1,non_coding_transcript_exon_variant,,ENST00000474707,;							LOW	2352/3210		RBGP1_HUMAN			Transcript			.	ENSP00000362751		CCDS6848.2			1	
BBS7	0	LGGM	GRCh37	4	122754405	122754405	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	46	3	.	.	ENST00000264499.4:c.1657C>A	p.Gln553Lys	p.Q553K	ENST00000264499	NM_176824.2	553	Caa/Aaa	0	1	1	UPI00001684D7	0	NA	ENST00000264499		ENSG00000138686	18758		49	2.415		HGNC	p.Q553K		BBS7		SNV			1				ENST00000506636	protein_coding	getma.org/?cm=var&var=hg19,4,122754405,G,T&fts=all		hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091		Q/K		T	medium	1841/3752		getma.org/?cm=msa&ty=f&p=BBS7_HUMAN&rb=12&re=710&var=Q553K	deleterious(0.04)	H0Y973_HUMAN			YES	BBS7,missense_variant,p.Gln553Lys,ENST00000264499,NM_176824.2;BBS7,missense_variant,p.Gln553Lys,ENST00000506636,NM_018190.3;BBS7,upstream_gene_variant,,ENST00000507814,;							MODERATE	1657/2148	Q553K	BBS7_HUMAN			Transcript		benign(0.174)	.	ENSP00000264499		CCDS3724.1			1	
SYNE1	0	LGGM	GRCh37	6	152542178	152542178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	27	3	.	.	ENST00000367255.5:c.21660G>T	p.Trp7220Cys	p.W7220C	ENST00000367255	NM_182961.3	7220	tgG/tgT	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		30	2.36		HGNC	p.W7220C		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152542178,C,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966		W/C		A	medium	22262/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=7136&re=7233&var=W7220C					YES	SYNE1,missense_variant,p.Trp7220Cys,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Trp7220Cys,ENST00000265368,;SYNE1,missense_variant,p.Trp7149Cys,ENST00000448038,;SYNE1,missense_variant,p.Trp7149Cys,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Trp6832Cys,ENST00000341594,;SYNE1,missense_variant,p.Trp1744Cys,ENST00000356820,;SYNE1,missense_variant,p.Trp142Cys,ENST00000367251,;SYNE1,upstream_gene_variant,,ENST00000367257,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;							MODERATE	21660/26394	W7220C	SYNE1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000356224		CCDS5236.2			1	
COL11A1	0	LGGM	GRCh37	1	103435819	103435819	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	34	3	.	.	ENST00000370096.3:c.2818G>T	p.Gly940Trp	p.G940W	ENST00000370096	NM_001854.3	940	Ggg/Tgg	0	1	1	UPI00002053EF	0	getma.org/pdb.php?prot=COBA1_HUMAN&from=901&to=1100&var=G940W	ENST00000370096		ENSG00000060718	2186		37	4.265		HGNC	p.G901W		COL11A1		SNV			1				ENST00000353414	protein_coding	getma.org/?cm=var&var=hg19,1,103435819,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg		G/W		A	high	3131/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=901&re=1100&var=G940W		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Gly952Trp,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Gly940Trp,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Gly901Trp,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Gly824Trp,ENST00000512756,NM_080630.3;							MODERATE	2818/5421	G940W	COBA1_HUMAN			Transcript		unknown(0)	.	ENSP00000359114		CCDS778.1			1	
PRPF3	0	LGGM	GRCh37	1	150318885	150318885	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	28	3	.	.	ENST00000324862.6:c.1761C>A	p.Gly587=	p.G587=	ENST00000324862	NM_004698.2	587	ggC/ggA	0	1	1	UPI00000729AA	0		ENST00000324862		ENSG00000117360	17348		31			HGNC	p.G587G		PRPF3		SNV			1				ENST00000324862	protein_coding			hmmpanther:PTHR14212,Pfam_domain:PF06544		G		A		1926/2433							YES	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,;							LOW	1761/2052		PRPF3_HUMAN			Transcript			.	ENSP00000315379		CCDS951.1			1	
ICK	0	LGGM	GRCh37	6	52897331	52897331	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	3	.	.	ENST00000356971.3:c.278G>T	p.Arg93Ile	p.R93I	ENST00000356971	NM_016513.4	93	aGa/aTa	0	1		UPI0000073DE8	0	getma.org/pdb.php?prot=ICK_HUMAN&from=4&to=284&var=R93I	ENST00000350082		ENSG00000112144	21219		32	1.62		HGNC	p.R93I		ICK		SNV			1				ENST00000356971	protein_coding	getma.org/?cm=var&var=hg19,6,52897331,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF150,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/I		A	low	625/6116		getma.org/?cm=msa&ty=f&p=ICK_HUMAN&rb=4&re=284&var=R93I	deleterious(0)					ICK,missense_variant,p.Arg93Ile,ENST00000356971,NM_016513.4;ICK,missense_variant,p.Arg93Ile,ENST00000350082,NM_014920.3;							MODERATE	278/1899	R93I	ICK_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000263043		CCDS4949.1			1	
FAM227B	0	LGGM	GRCh37	15	49881990	49881990	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	22	3	.	.	ENST00000299338.6:c.320G>T	p.Ser107Ile	p.S107I	ENST00000299338	NM_152647.2	107	aGc/aTc	0	1	1	UPI0000D6133A	0	NA	ENST00000299338		ENSG00000166262	26543		25	0.895		HGNC	p.S107I		FAM227B		SNV							ENST00000561064	protein_coding	getma.org/?cm=var&var=hg19,15,49881990,C,A&fts=all				S/I		A	low	624/2008		getma.org/?cm=msa&ty=f&p=CO033_HUMAN&rb=1&re=507&var=S107I	tolerated(0.15)	H0YLX5_HUMAN			YES	FAM227B,missense_variant,p.Ser107Ile,ENST00000299338,NM_152647.2;FAM227B,missense_variant,p.Ser107Ile,ENST00000561064,;FAM227B,missense_variant,p.Ser107Ile,ENST00000558594,;FAM227B,missense_variant,p.Ser51Ile,ENST00000558579,;FAM227B,missense_variant,p.Ser107Ile,ENST00000560246,;FAM227B,missense_variant,p.Ser107Ile,ENST00000559905,;FAM227B,non_coding_transcript_exon_variant,,ENST00000558862,;FAM227B,non_coding_transcript_exon_variant,,ENST00000558615,;FAM227B,non_coding_transcript_exon_variant,,ENST00000561319,;FAM227B,intron_variant,,ENST00000561116,;							MODERATE	320/1527	S107I	F227B_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000299338		CCDS32237.1			1	
ITIH6	0	LGGM	GRCh37	X	54783980	54783980	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	3	.	.	ENST00000218436.6:c.2527G>T	p.Gly843Ter	p.G843*	ENST00000218436	NM_198510.2	843	Gga/Tga	0	1	1	UPI00000540C8	0	NA	ENST00000218436		ENSG00000102313	28907		28	0		HGNC	p.G843X		ITIH6		SNV							ENST00000218436	protein_coding	getma.org/?cm=var&var=hg19,X,54783980,C,A&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10		G/*		A	NA	2557/4968		NA					YES	ITIH6,stop_gained,p.Gly843Ter,ENST00000218436,NM_198510.2;							HIGH	2527/3942	G843*	ITIH6_HUMAN			Transcript			.	ENSP00000218436		CCDS14361.1			1	
SNAP91	0	LGGM	GRCh37	6	84320389	84320389	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	10	3	.	.	ENST00000439399.2:c.892G>A	p.Ala298Thr	p.A298T	ENST00000439399	NM_014841.2	298	Gct/Act	0	1		UPI0000124FB3	0	NA	ENST00000369694		ENSG00000065609	14986		13	0.69		HGNC	p.A296T		SNAP91		SNV							ENST00000520302	protein_coding	getma.org/?cm=var&var=hg19,6,84320389,C,T&fts=all		hmmpanther:PTHR22951,hmmpanther:PTHR22951:SF4		A/T		T	neutral	1206/4449		getma.org/?cm=msa&ty=f&p=AP180_HUMAN&rb=297&re=905&var=A298T	tolerated(0.14)	E5RK53_HUMAN,E5RK51_HUMAN,E5RJY3_HUMAN,E5RIJ5_HUMAN,E5RFU0_HUMAN,E5RFC6_HUMAN,B7Z2C2_HUMAN				SNAP91,missense_variant,p.Ala298Thr,ENST00000428679,;SNAP91,missense_variant,p.Ala298Thr,ENST00000521485,;SNAP91,missense_variant,p.Ala298Thr,ENST00000439399,NM_014841.2;SNAP91,missense_variant,p.Ala298Thr,ENST00000369694,NM_001242792.1;SNAP91,missense_variant,p.Ala298Thr,ENST00000195649,NM_001256718.1;SNAP91,missense_variant,p.Ala298Thr,ENST00000521743,;SNAP91,missense_variant,p.Ala296Thr,ENST00000520302,NM_001256717.1,NM_001242793.1;SNAP91,missense_variant,p.Ala282Thr,ENST00000437520,NM_001242794.1;SNAP91,missense_variant,p.Ala282Thr,ENST00000520213,;SNAP91,missense_variant,p.Ala296Thr,ENST00000521931,;SNAP91,upstream_gene_variant,,ENST00000369691,;SNAP91,3_prime_UTR_variant,,ENST00000518312,;SNAP91,3_prime_UTR_variant,,ENST00000521616,;							MODERATE	892/2724	A298T	AP180_HUMAN			Transcript		unknown(0)	.	ENSP00000358708		CCDS47455.1			1	
ATP1B1	0	LGGM	GRCh37	1	169096467	169096467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	39	3	.	.	ENST00000367816.1:c.388C>A	p.Pro130Thr	p.P130T	ENST00000367816		130	Ccc/Acc	0	1		UPI0000126296	0	getma.org/pdb.php?prot=AT1B1_HUMAN&from=1&to=298&var=P130T	ENST00000367815		ENSG00000143153	804		42	2.415		HGNC	p.P122T		ATP1B1		SNV							ENST00000367813	protein_coding	getma.org/?cm=var&var=hg19,1,169096467,C,A&fts=all		Gene3D:2zxeB02,Pfam_domain:PF00287,hmmpanther:PTHR11523,hmmpanther:PTHR11523:SF10,TIGRFAM_domain:TIGR01107		P/T		A	medium	895/1883		getma.org/?cm=msa&ty=f&p=AT1B1_HUMAN&rb=1&re=298&var=P130T	deleterious(0.01)	Q58I20_HUMAN,B7Z9S8_HUMAN,A3KLL5_HUMAN				ATP1B1,missense_variant,p.Pro130Thr,ENST00000367816,;ATP1B1,missense_variant,p.Pro130Thr,ENST00000367815,NM_001677.3;ATP1B1,missense_variant,p.Pro74Thr,ENST00000499679,;ATP1B1,missense_variant,p.Pro122Thr,ENST00000367813,;ATP1B1,missense_variant,p.Pro74Thr,ENST00000494797,;							MODERATE	388/912	P130T	AT1B1_HUMAN			Transcript		benign(0.442)	.	ENSP00000356789		CCDS1276.1			1	
KRT73	0	LGGM	GRCh37	12	53011895	53011895	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	31	3	.	.	ENST00000305748.3:c.414G>T	p.Val138=	p.V138=	ENST00000305748	NM_175068.2	138	gtG/gtT	0	1	1	UPI000000DCB8	0		ENST00000305748		ENSG00000186049	28928		34			HGNC	p.V138V		KRT73		SNV							ENST00000305748	protein_coding			Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122,Superfamily_domains:SSF64593		V		A		449/2284							YES	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,;							LOW	414/1623		K2C73_HUMAN			Transcript			.	ENSP00000307014		CCDS8834.1			1	
AGGF1	0	LGGM	GRCh37	5	76331498	76331498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	38	3	.	.	ENST00000312916.7:c.446C>A	p.Ala149Asp	p.A149D	ENST00000312916	NM_018046.4	149	gCt/gAt	0	1	1	UPI0000231C8D	0	NA	ENST00000312916		ENSG00000164252	24684		41	0.895		HGNC	p.A149D		AGGF1		SNV			1				ENST00000506806	protein_coding	getma.org/?cm=var&var=hg19,5,76331498,C,A&fts=all		hmmpanther:PTHR23106		A/D		A	low	828/4509		getma.org/?cm=msa&ty=f&p=AGGF1_HUMAN&rb=1&re=200&var=A149D	tolerated(0.17)	A8K029_HUMAN			YES	AGGF1,missense_variant,p.Ala149Asp,ENST00000312916,NM_018046.4;AGGF1,missense_variant,p.Ala149Asp,ENST00000506806,;AGGF1,non_coding_transcript_exon_variant,,ENST00000503538,;AGGF1,3_prime_UTR_variant,,ENST00000502408,;							MODERATE	446/2145	A149D	AGGF1_HUMAN			Transcript		benign(0.101)	.	ENSP00000316109		CCDS4035.1			1	
XAB2	0	LGGM	GRCh37	19	7684682	7684682	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	40	3	.	.	ENST00000358368.4:c.2457C>A	p.Ile819=	p.I819=	ENST00000358368	NM_020196.2	819	atC/atA	0	1	1	UPI0000001BDE	0		ENST00000358368		ENSG00000076924	14089		43			HGNC	p.I819I		XAB2		SNV							ENST00000358368	protein_coding			hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13		I		T		2495/2667				Q68CN2_HUMAN,F5H315_HUMAN			YES	XAB2,synonymous_variant,p.=,ENST00000358368,NM_020196.2;XAB2,synonymous_variant,p.=,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,downstream_gene_variant,,ENST00000600230,;XAB2,downstream_gene_variant,,ENST00000596134,;CAMSAP3,downstream_gene_variant,,ENST00000593434,;							LOW	2457/2568		SYF1_HUMAN			Transcript			.	ENSP00000351137		CCDS32892.1			1	
TEKT1	0	LGGM	GRCh37	17	6733599	6733599	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	39	3	.	.	ENST00000338694.2:c.97C>A	p.Arg33=	p.R33=	ENST00000338694	NM_053285.1	33	Cga/Aga	0	1	1	UPI0000136BA9	0		ENST00000338694		ENSG00000167858	15534		42			HGNC	p.R33R		TEKT1		SNV							ENST00000575592	protein_coding			Pfam_domain:PF03148,hmmpanther:PTHR19960		R		T		227/3421				F5GZX2_HUMAN			YES	TEKT1,synonymous_variant,p.=,ENST00000338694,NM_053285.1;TEKT1,5_prime_UTR_variant,,ENST00000535086,;TEKT1,synonymous_variant,p.=,ENST00000575592,;TEKT1,non_coding_transcript_exon_variant,,ENST00000573966,;							LOW	97/1257		TEKT1_HUMAN			Transcript			.	ENSP00000341346		CCDS11083.1			1	
GSG1L	0	LGGM	GRCh37	16	27840221	27840221	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	21	3	.	.	ENST00000447459.2:c.719C>A	p.Ser240Tyr	p.S240Y	ENST00000447459	NM_001109763.1	240	tCc/tAc	0	1	1	UPI0000EE765B	0	NA	ENST00000447459		ENSG00000169181	28283		24	1.65		HGNC	p.S240Y	COSM341064,COSM341063	GSG1L		SNV						1,1	ENST00000447459	protein_coding	getma.org/?cm=var&var=hg19,16,27840221,G,T&fts=all		hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF35,Transmembrane_helices:TMhelix		S/Y		T	low	804/4916		getma.org/?cm=msa&ty=f&p=GSG1L_HUMAN&rb=134&re=331&var=S240Y	deleterious(0.01)				YES	GSG1L,missense_variant,p.Ser85Tyr,ENST00000380898,;GSG1L,missense_variant,p.Ser240Tyr,ENST00000447459,NM_001109763.1;GSG1L,missense_variant,p.Ser189Tyr,ENST00000395724,;GSG1L,missense_variant,p.Ser85Tyr,ENST00000380897,NM_144675.2;GSG1L,missense_variant,p.Ser85Tyr,ENST00000569166,;GSG1L,3_prime_UTR_variant,,ENST00000562611,;					1,1		MODERATE	719/996	S240Y	GSG1L_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000394954		CCDS45450.1			1	
ASIC4	0	LGGM	GRCh37	2	220397108	220397108	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	19	3	.	.	ENST00000347842.3:c.1308C>A	p.Gly436=	p.G436=	ENST00000347842	NM_182847.2	436	ggC/ggA	0	1	1	UPI0000456EFC	0		ENST00000347842		ENSG00000072182	21263		22			HGNC	p.G436G		ASIC4		SNV							ENST00000358078	protein_coding			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF13,Gene3D:2qtsA02,Pfam_domain:PF00858		G		A		1322/2684							YES	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,;							LOW	1308/1944		ASIC4_HUMAN			Transcript			.	ENSP00000326627		CCDS2442.1			1	
TUBGCP3	0	LGGM	GRCh37	13	113213684	113213684	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	31	3	.	.	ENST00000261965.3:c.282C>A	p.Leu94=	p.L94=	ENST00000261965	NM_006322.4	94	ctC/ctA	0	1	1	UPI000000DB88	0		ENST00000261965		ENSG00000126216	18598		34			HGNC	p.L94L		TUBGCP3		SNV							ENST00000261965	protein_coding			hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14		L		T		469/3893							YES	TUBGCP3,synonymous_variant,p.=,ENST00000261965,NM_006322.4;TUBGCP3,synonymous_variant,p.=,ENST00000375669,NM_001286278.1;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000483532,;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000464139,;							LOW	282/2724		GCP3_HUMAN			Transcript			.	ENSP00000261965		CCDS9525.1			1	
TP63	0	LGGM	GRCh37	3	189582195	189582195	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	37	3	.	.	ENST00000264731.3:c.754G>T	p.Glu252Ter	p.E252*	ENST00000264731	NM_003722.4	252	Gaa/Taa	0	1	1	UPI0000073CF2	0	NA	ENST00000264731		ENSG00000073282	15979		40	0		HGNC	p.E158X		TP63		SNV			1				ENST00000392461	protein_coding	getma.org/?cm=var&var=hg19,3,189582195,G,T&fts=all		hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417		E/*		T	NA	843/4909		NA					YES	TP63,stop_gained,p.Glu252Ter,ENST00000264731,NM_003722.4,NM_001114978.1;TP63,stop_gained,p.Glu158Ter,ENST00000354600,NM_001114981.1,NM_001114980.1;TP63,stop_gained,p.Glu167Ter,ENST00000382063,;TP63,stop_gained,p.Glu252Ter,ENST00000418709,NM_001114979.1;TP63,stop_gained,p.Glu158Ter,ENST00000437221,NM_001114982.1;TP63,stop_gained,p.Glu252Ter,ENST00000320472,;TP63,stop_gained,p.Glu252Ter,ENST00000440651,;TP63,stop_gained,p.Glu158Ter,ENST00000456148,;TP63,stop_gained,p.Glu252Ter,ENST00000392460,;TP63,stop_gained,p.Glu73Ter,ENST00000449992,;TP63,stop_gained,p.Glu158Ter,ENST00000392463,;TP63,stop_gained,p.Glu158Ter,ENST00000392461,;TP63,downstream_gene_variant,,ENST00000434928,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;							HIGH	754/2043	E252*	P63_HUMAN			Transcript			.	ENSP00000264731		CCDS3293.1			1	
ISY1-RAB43	0	LGGM	GRCh37	3	128813995	128813995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	30	3	.	.	ENST00000418265.1:c.869G>T	p.Arg290Leu	p.R290L	ENST00000418265	NM_001204890.1	290	cGg/cTg	0	1	1	UPI00005A60DB	0		ENST00000418265		ENSG00000261796	42969		33			HGNC	p.R290L	rs369991706,COSM479388	ISY1-RAB43		SNV	A:0					0,1	ENST00000418265	protein_coding					R/L	A:0.0001	A		930/4868	1.51E-05		deleterious_low_confidence(0.04)	H9XFA1_HUMAN			YES	ISY1-RAB43,missense_variant,p.Arg290Leu,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,synonymous_variant,p.=,ENST00000457077,;					0,1		MODERATE	869/996					Transcript		benign(0.161)	.	ENSP00000411822	8.24E-06	CCDS56276.1			1	
AKAP6	0	LGGM	GRCh37	14	33293632	33293632	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	35	3	.	.	ENST00000280979.4:c.6613G>T	p.Ala2205Ser	p.A2205S	ENST00000280979	NM_004274.4	2205	Gct/Tct	0	1	1	UPI000013DC48	0	NA	ENST00000280979		ENSG00000151320	376		38	0.41		HGNC	p.A2205S		AKAP6		SNV							ENST00000280979	protein_coding	getma.org/?cm=var&var=hg19,14,33293632,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		A/S		T	neutral	6783/8686		getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=A2205S	tolerated_low_confidence(0.82)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,missense_variant,p.Ala2205Ser,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							MODERATE	6613/6960	A2205S	AKAP6_HUMAN			Transcript		benign(0.003)	.	ENSP00000280979		CCDS9644.1			1	
BAZ2A	0	LGGM	GRCh37	12	57005622	57005622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	37	3	.	.	ENST00000551812.1:c.1550G>T	p.Ser517Ile	p.S517I	ENST00000551812	NM_013449.3	517	aGc/aTc	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		40	0.345		HGNC	p.S515I		BAZ2A		SNV							ENST00000549884	protein_coding	getma.org/?cm=var&var=hg19,12,57005622,C,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		S/I		A	neutral	1744/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=3&re=518&var=S517I	deleterious(0.03)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Ser485Ile,ENST00000179765,;BAZ2A,missense_variant,p.Ser487Ile,ENST00000379441,;BAZ2A,missense_variant,p.Ser517Ile,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Ser515Ile,ENST00000549884,;BAZ2A,missense_variant,p.Ser165Ile,ENST00000551996,;BAZ2A,downstream_gene_variant,,ENST00000546695,;BAZ2A,upstream_gene_variant,,ENST00000547650,;BAZ2A,downstream_gene_variant,,ENST00000549506,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000549327,;BAZ2A,upstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000547647,;BAZ2A,downstream_gene_variant,,ENST00000550730,;BAZ2A,downstream_gene_variant,,ENST00000551959,;							MODERATE	1550/5718	S517I	BAZ2A_HUMAN			Transcript		benign(0.1)	.	ENSP00000446880		CCDS44924.1			1	
TREH	0	LGGM	GRCh37	11	118532122	118532122	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	27	3	.	.	ENST00000264029.4:c.714C>A	p.Thr238=	p.T238=	ENST00000264029	NM_007180.2	238	acC/acA	0	1	1	UPI00001AE89B	0		ENST00000264029		ENSG00000118094	12266		30			HGNC	p.T207T		TREH		SNV			1				ENST00000397925	protein_coding			Pfam_domain:PF01204,hmmpanther:PTHR23403,hmmpanther:PTHR23403:SF1,Superfamily_domains:SSF48208		T		T		759/1851							YES	TREH,synonymous_variant,p.=,ENST00000529101,;TREH,synonymous_variant,p.=,ENST00000264029,NM_007180.2;TREH,synonymous_variant,p.=,ENST00000530256,;TREH,synonymous_variant,p.=,ENST00000525958,;TREH,synonymous_variant,p.=,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,;TREH,non_coding_transcript_exon_variant,,ENST00000531295,;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,,ENST00000527558,;							LOW	714/1749		TREA_HUMAN			Transcript			.	ENSP00000264029					1	
GPATCH2L	0	LGGM	GRCh37	14	76643026	76643026	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	42	3	.	.	ENST00000261530.7:c.1045C>A	p.Gln349Lys	p.Q349K	ENST00000261530	NM_017926.2	349	Cag/Aag	0	1	1	UPI000006FA38	0	NA	ENST00000261530		ENSG00000089916	20210		45	1.1		HGNC	p.Q349K		GPATCH2L		SNV							ENST00000312858	protein_coding	getma.org/?cm=var&var=hg19,14,76643026,C,A&fts=all		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF3		Q/K		A	low	1111/14007		getma.org/?cm=msa&ty=f&p=CN118_HUMAN&rb=201&re=400&var=Q349K	tolerated(0.11)	G3V5D0_HUMAN			YES	GPATCH2L,missense_variant,p.Gln349Lys,ENST00000261530,NM_017926.2;GPATCH2L,missense_variant,p.Gln349Lys,ENST00000312858,NM_017972.2;GPATCH2L,5_prime_UTR_variant,,ENST00000554799,;GPATCH2L,downstream_gene_variant,,ENST00000556663,;GPATCH2L,downstream_gene_variant,,ENST00000557263,;GPATCH2L,upstream_gene_variant,,ENST00000553588,;GPATCH2L,upstream_gene_variant,,ENST00000556675,;GPATCH2L,missense_variant,p.Gln349Lys,ENST00000554375,;GPATCH2L,non_coding_transcript_exon_variant,,ENST00000554125,;							MODERATE	1045/1449	Q349K	GPT2L_HUMAN			Transcript		benign(0.197)	.	ENSP00000261530		CCDS9848.1			1	
EPPK1	0	LGGM	GRCh37	8	144941186	144941186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	33	3	.	.	ENST00000525985.1:c.6236G>T	p.Gly2079Val	p.G2079V	ENST00000525985	NM_031308.2	2079	gGc/gTc	0	1	1	UPI00006C0DF1	0	NA	ENST00000525985		ENSG00000227184	15577		36	2.57		HGNC	p.G2079V	COSM1551992	EPPK1		SNV						1	ENST00000525985	protein_coding	getma.org/?cm=var&var=hg19,8,144941186,C,A&fts=all		Gene3D:3.90.1290.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399		G/V		A	medium	6308/7997		getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=2049&re=2248&var=G2079V		E9PPU0_HUMAN			YES	EPPK1,missense_variant,p.Gly2079Val,ENST00000525985,NM_031308.2;					1		MODERATE	6236/7263	G2079V				Transcript		probably_damaging(0.927)	.	ENSP00000436337					1	
PTPRM	0	LGGM	GRCh37	18	8406128	8406128	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	3	.	.	ENST00000580170.1:c.4366G>T	p.Glu1456Ter	p.E1456*	ENST00000580170	NM_001105244.1	1456	Gag/Tag	0	1		UPI00002019A9	0	NA	ENST00000332175		ENSG00000173482	9675		28	0		HGNC	p.E1443X		PTPRM		SNV							ENST00000332175	protein_coding	getma.org/?cm=var&var=hg19,18,8406128,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		E/*		T	NA	5364/6095		NA		Q49AC9_HUMAN,E7EPS8_HUMAN				PTPRM,stop_gained,p.Glu1443Ter,ENST00000332175,NM_002845.3;PTPRM,stop_gained,p.Glu1456Ter,ENST00000580170,NM_001105244.1;PTPRM,stop_gained,p.Glu1381Ter,ENST00000400053,;PTPRM,stop_gained,p.Glu1230Ter,ENST00000444013,;PTPRM,stop_gained,p.Glu1457Ter,ENST00000400060,;RP11-789C17.1,downstream_gene_variant,,ENST00000578897,;RP11-789C17.5,downstream_gene_variant,,ENST00000579805,;PTPRM,non_coding_transcript_exon_variant,,ENST00000580949,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;							HIGH	4327/4359	E1443*	PTPRM_HUMAN			Transcript			.	ENSP00000331418		CCDS11840.1			1	
AVIL	0	LGGM	GRCh37	12	58193602	58193602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	39	3	.	.	ENST00000257861.3:c.2322G>T	p.Glu774Asp	p.E774D	ENST00000257861	NM_006576.3	774	gaG/gaT	0	1	1	UPI000013CF93	0	getma.org/pdb.php?prot=AVIL_HUMAN&from=753&to=819&var=E774D	ENST00000257861		ENSG00000135407	14188		42	0.91		HGNC	p.E767D		AVIL		SNV							ENST00000537081	protein_coding	getma.org/?cm=var&var=hg19,12,58193602,C,A&fts=all		Superfamily_domains:SSF47050,Gene3D:1.10.950.10,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF33,PROSITE_profiles:PS51089		E/D		A	low	2753/2891		getma.org/?cm=msa&ty=f&p=AVIL_HUMAN&rb=753&re=819&var=E774D	tolerated(0.17)	F8VVU1_HUMAN			YES	AVIL,missense_variant,p.Glu767Asp,ENST00000537081,;AVIL,missense_variant,p.Glu774Asp,ENST00000257861,NM_006576.3;TSFM,intron_variant,,ENST00000543727,NM_001172697.1;TSFM,intron_variant,,ENST00000550559,;TSFM,intron_variant,,ENST00000548851,;TSFM,downstream_gene_variant,,ENST00000454289,NM_005726.5;TSFM,downstream_gene_variant,,ENST00000540550,NM_001172695.1;TSFM,downstream_gene_variant,,ENST00000350762,;TSFM,downstream_gene_variant,,ENST00000323833,NM_001172696.1;TSFM,downstream_gene_variant,,ENST00000457189,;RP11-571M6.17,upstream_gene_variant,,ENST00000602802,;TSFM,downstream_gene_variant,,ENST00000497617,;AVIL,downstream_gene_variant,,ENST00000550083,;AVIL,3_prime_UTR_variant,,ENST00000549851,;AVIL,non_coding_transcript_exon_variant,,ENST00000546952,;AVIL,non_coding_transcript_exon_variant,,ENST00000551248,;AVIL,downstream_gene_variant,,ENST00000550537,;							MODERATE	2322/2460	E774D	AVIL_HUMAN			Transcript		benign(0.006)	.	ENSP00000257861		CCDS8959.1			1	
CARD16	0	LGGM	GRCh37	11	104912170	104912170	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	39	3	.	.	ENST00000375706.2:c.551G>T	p.Gly184Val	p.G184V	ENST00000375706	NM_001017534.1	184	gGt/gTt	0	1	1	UPI00004C9CE7	0	NA	ENST00000375706		ENSG00000204397	33701		42	0.69		HGNC	p.G184V		CARD16		SNV							ENST00000375706	protein_coding	getma.org/?cm=var&var=hg19,11,104912170,C,A&fts=all		hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF34		G/V		A	neutral	569/686		getma.org/?cm=msa&ty=f&p=CAR16_HUMAN&rb=91&re=197&var=G184V	deleterious_low_confidence(0)	E9PQW1_HUMAN			YES	CARD16,missense_variant,p.Gly184Val,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,;							MODERATE	551/594	G184V	CAR16_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000364858		CCDS31661.1			1	
MAST4	0	LGGM	GRCh37	5	66460792	66460792	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	3	.	.	ENST00000403625.2:c.5785C>A	p.Gln1929Lys	p.Q1929K	ENST00000403625	NM_001164664.1	1929	Caa/Aaa	0	1	1	UPI000173A2B0	0	NA	ENST00000403625		ENSG00000069020	19037		23	1.04		HGNC	p.Q1750K		MAST4		SNV							ENST00000405643	protein_coding	getma.org/?cm=var&var=hg19,5,66460792,C,A&fts=all				Q/K		A	low	6080/10711		getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=1824&re=2624&var=Q1932K		J3QT34_HUMAN			YES	MAST4,missense_variant,p.Gln1932Lys,ENST00000404260,;MAST4,missense_variant,p.Gln1929Lys,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Gln1750Lys,ENST00000405643,;MAST4,missense_variant,p.Gln1735Lys,ENST00000261569,;MAST4,missense_variant,p.Gln1740Lys,ENST00000403666,NM_015183.2;MAST4,missense_variant,p.Gln986Lys,ENST00000443808,;							MODERATE	5785/7872	Q1932K				Transcript		benign(0.012)	.	ENSP00000385727		CCDS54861.1			1	
CNTD1	0	LGGM	GRCh37	17	40957748	40957748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	47	3	.	.	ENST00000588408.1:c.426C>A	p.Ser142Arg	p.S142R	ENST00000588408	NM_173478.2	142	agC/agA	0	1	1	UPI000006EFD8	0	NA	ENST00000588408		ENSG00000176563	26847		50	1.845		HGNC	p.S142R		CNTD1		SNV							ENST00000588408	protein_coding	getma.org/?cm=var&var=hg19,17,40957748,C,A&fts=all		hmmpanther:PTHR21615,Pfam_domain:PF00134,Gene3D:1.10.472.10,Superfamily_domains:SSF47954		S/R		A	low	702/2369		getma.org/?cm=msa&ty=f&p=CNTD1_HUMAN&rb=109&re=178&var=S142R	deleterious(0.01)	B4DXR6_HUMAN			YES	CNTD1,missense_variant,p.Ser142Arg,ENST00000588408,NM_173478.2;CNTD1,missense_variant,p.Ser59Arg,ENST00000588527,;CNTD1,missense_variant,p.Ser90Arg,ENST00000585355,;BECN1,downstream_gene_variant,,ENST00000361523,NM_003766.3;BECN1,downstream_gene_variant,,ENST00000590099,;BECN1,downstream_gene_variant,,ENST00000438274,;BECN1,downstream_gene_variant,,ENST00000590764,;BECN1,downstream_gene_variant,,ENST00000588276,;CNTD1,upstream_gene_variant,,ENST00000586652,;BECN1,downstream_gene_variant,,ENST00000589663,;CNTD1,non_coding_transcript_exon_variant,,ENST00000315066,;CNTD1,downstream_gene_variant,,ENST00000591559,;CNTD1,3_prime_UTR_variant,,ENST00000592166,;BECN1,downstream_gene_variant,,ENST00000543382,;BECN1,downstream_gene_variant,,ENST00000587880,;							MODERATE	426/993	S142R	CNTD1_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000465204		CCDS11440.1			1	
CHST8	0	LGGM	GRCh37	19	34262353	34262353	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	46	3	.	.	ENST00000262622.4:c.166C>A	p.His56Asn	p.H56N	ENST00000262622	NM_022467.3	56	Cac/Aac	0	1	1	UPI000006F966	0	NA	ENST00000262622		ENSG00000124302	15993		49	-0.205		HGNC	p.H56N		CHST8		SNV			1				ENST00000591231	protein_coding	getma.org/?cm=var&var=hg19,19,34262353,C,A&fts=all		hmmpanther:PTHR12137:SF7,hmmpanther:PTHR12137		H/N		A	neutral	924/2479		getma.org/?cm=msa&ty=f&p=CHST8_HUMAN&rb=1&re=181&var=H56N	tolerated(0.56)	K7ENM3_HUMAN			YES	CHST8,missense_variant,p.His56Asn,ENST00000262622,NM_022467.3;CHST8,missense_variant,p.His56Asn,ENST00000434302,NM_001127895.1;CHST8,missense_variant,p.His56Asn,ENST00000438847,NM_001127896.1;CHST8,missense_variant,p.His56Asn,ENST00000591231,;							MODERATE	166/1275	H56N	CHST8_HUMAN			Transcript		benign(0)	.	ENSP00000262622		CCDS12433.1			1	
FAM83G	0	LGGM	GRCh37	17	18881313	18881313	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	28	3	.	.	ENST00000388995.6:c.1666C>A	p.Arg556=	p.R556=	ENST00000388995		556	Cgg/Agg	0	1		UPI0000E03260	0		ENST00000345041		ENSG00000188522	32554		31			HGNC	p.R556R		FAM83G		SNV							ENST00000585154	protein_coding			hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF5		R		T		1832/2929								FAM83G,synonymous_variant,p.=,ENST00000388995,;FAM83G,synonymous_variant,p.=,ENST00000345041,;FAM83G,synonymous_variant,p.=,ENST00000585154,NM_001039999.2;SLC5A10,intron_variant,,ENST00000317977,NM_001282417.1;SLC5A10,intron_variant,,ENST00000395642,;SLC5A10,intron_variant,,ENST00000395647,NM_152351.4;SLC5A10,intron_variant,,ENST00000395645,NM_001042450.2;SLC5A10,intron_variant,,ENST00000395643,NM_001270648.1;SLC5A10,intron_variant,,ENST00000417251,NM_001270649.1;FAM83G,upstream_gene_variant,,ENST00000580115,;FAM83G,non_coding_transcript_exon_variant,,ENST00000399096,;							LOW	1666/2472		FA83G_HUMAN			Transcript			.	ENSP00000343279		CCDS42276.1			1	
FAM57B	0	LGGM	GRCh37	16	30038126	30038126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	11	4	.	.	ENST00000380495.4:c.248C>A	p.Pro83His	p.P83H	ENST00000380495	NM_031478.4	83	cCc/cAc	0	1	1	UPI000022EE26	0	NA	ENST00000380495		ENSG00000149926	25295		15	2.61		HGNC	p.P83H		FAM57B		SNV							ENST00000561666	protein_coding	getma.org/?cm=var&var=hg19,16,30038126,G,T&fts=all		PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF8,Pfam_domain:PF03798,SMART_domains:SM00724		P/H		T	medium	980/2313		getma.org/?cm=msa&ty=f&p=FA57B_HUMAN&rb=38&re=254&var=P83H	deleterious(0)	F1T0F5_HUMAN			YES	FAM57B,missense_variant,p.Pro83His,ENST00000380495,NM_031478.4;FAM57B,missense_variant,p.Pro33His,ENST00000564806,;FAM57B,missense_variant,p.Pro33His,ENST00000279389,;FAM57B,missense_variant,p.Pro83His,ENST00000561666,;C16orf92,intron_variant,,ENST00000569198,;C16orf92,intron_variant,,ENST00000567847,;C16orf92,downstream_gene_variant,,ENST00000300575,NM_001109660.1,NM_001109659.1;DOC2A,upstream_gene_variant,,ENST00000572637,;DOC2A,upstream_gene_variant,,ENST00000570194,;DOC2A,upstream_gene_variant,,ENST00000564075,;FAM57B,3_prime_UTR_variant,,ENST00000569508,;C16orf92,downstream_gene_variant,,ENST00000561910,;							MODERATE	248/825	P83H	FA57B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369863		CCDS10667.2			1	
KMT2D	0	LGGM	GRCh37	12	49440504	49440504	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	9	4	.	.	ENST00000301067.7:c.4306G>T	p.Ala1436Ser	p.A1436S	ENST00000301067	NM_003482.3	1436	Gcc/Tcc	0	1	1	UPI0000EE84D6	0	getma.org/pdb.php?prot=MLL2_HUMAN&from=1429&to=1477&var=A1436S	ENST00000301067		ENSG00000167548	7133		13	-0.09		HGNC	p.A1436S		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49440504,C,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00628,PROSITE_profiles:PS50016,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,SMART_domains:SM00249,Superfamily_domains:SSF57903		A/S		A	neutral	4306/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=1429&re=1477&var=A1436S		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Ala1436Ser,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000550356,;							MODERATE	4306/16614	A1436S	KMT2D_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000301067		CCDS44873.1			1	
FAM78B	0	LGGM	GRCh37	1	166039976	166039976	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	38	4	.	.	ENST00000338353.3:c.288G>T	p.Leu96Phe	p.L96F	ENST00000338353		96	ttG/ttT	0	1	1	UPI00001612B4	0	NA	ENST00000338353		ENSG00000188859	13495		42	2.31		HGNC	p.L96F		FAM78B		SNV							ENST00000456900	protein_coding	getma.org/?cm=var&var=hg19,1,166039976,C,A&fts=all		hmmpanther:PTHR31655,hmmpanther:PTHR31655:SF0		L/F		A	medium	878/1597		getma.org/?cm=msa&ty=f&p=FA78B_HUMAN&rb=95&re=259&var=L96F	deleterious(0)				YES	FAM78B,missense_variant,p.Leu96Phe,ENST00000338353,;FAM78B,missense_variant,p.Leu96Phe,ENST00000354422,NM_001017961.3;FAM78B,missense_variant,p.Leu89Phe,ENST00000435676,;FAM78B,missense_variant,p.Leu96Phe,ENST00000456900,;FAM78B,missense_variant,p.Leu92Phe,ENST00000441649,;							MODERATE	288/786	L96F	FA78B_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000339681		CCDS30931.1			1	
RPGR	0	LGGM	GRCh37	X	38136019	38136019	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	42	4	.	.	ENST00000465127.1:c.172-389356C>A		*58*	ENST00000465127				0	1		UPI0000134632	0	NA	ENST00000339363		ENSG00000156313	10295		46	0		HGNC	p.E843X		RPGR		SNV			1				ENST00000339363	protein_coding	getma.org/?cm=var&var=hg19,X,38136019,C,A&fts=all				E/*		A	NA	2695/3686		NA						RPGR,stop_gained,p.Glu843Ter,ENST00000339363,;RPGR,stop_gained,p.Glu638Ter,ENST00000318842,NM_000328.2;RPGR,stop_gained,p.Glu576Ter,ENST00000309513,;RPGR,stop_gained,p.Glu50Ter,ENST00000494707,;RPGR,3_prime_UTR_variant,,ENST00000338898,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,downstream_gene_variant,,ENST00000342811,;RPGR,3_prime_UTR_variant,,ENST00000482855,;RPGR,3_prime_UTR_variant,,ENST00000474584,;RPGR,upstream_gene_variant,,ENST00000476559,;							HIGH	2527/3063	E843*	RPGR_HUMAN			Transcript			.	ENSP00000343671					1	
FLRT1	0	LGGM	GRCh37	11	63885095	63885095	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	17	4	.	.	ENST00000246841.3:c.1356C>A	p.Arg452=	p.R452=	ENST00000246841	NM_013280.4	452	cgC/cgA	0	1	1	UPI0000039F94	0		ENST00000246841		ENSG00000126500	3760		21			HGNC	p.R452R		FLRT1		SNV			1				ENST00000246841	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF30,Superfamily_domains:SSF49265		R		A		2399/3949				O43408_HUMAN			YES	FLRT1,synonymous_variant,p.=,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,;							LOW	1356/2025		FLRT1_HUMAN			Transcript			.	ENSP00000246841		CCDS8057.1			1	
CCDC154	0	LGGM	GRCh37	16	1488102	1488102	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	6	4	.	.	ENST00000389176.3:c.1128A>T	p.Ala376=	p.A376=	ENST00000389176	NM_001143980.1	376	gcA/gcT	0	1	1	UPI000178DF39	0		ENST00000389176		ENSG00000197599	34454		10			HGNC	p.A376A		CCDC154		SNV							ENST00000389176	protein_coding			Pfam_domain:PF15450		A		A		1295/2212							YES	CCDC154,synonymous_variant,p.=,ENST00000409671,;CCDC154,synonymous_variant,p.=,ENST00000389176,NM_001143980.1;CCDC154,upstream_gene_variant,,ENST00000483702,;CCDC154,upstream_gene_variant,,ENST00000463299,;							LOW	1128/2025		CC154_HUMAN			Transcript			.	ENSP00000373828					1	
ACSF2	0	LGGM	GRCh37	17	48539819	48539819	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	60	4	.	.	ENST00000300441.4:c.665C>A	p.Pro222His	p.P222H	ENST00000300441	NM_025149.4	222	cCt/cAt	0	1	1	UPI0000049DEF	0	getma.org/pdb.php?prot=ACSF2_HUMAN&from=101&to=540&var=P222H	ENST00000300441		ENSG00000167107	26101		64	0.755		HGNC	p.P62H		ACSF2		SNV							ENST00000541920	protein_coding	getma.org/?cm=var&var=hg19,17,48539819,C,A&fts=all		hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		P/H		A	neutral	769/2235		getma.org/?cm=msa&ty=f&p=ACSF2_HUMAN&rb=101&re=540&var=P222H	tolerated(0.13)	B4DUF5_HUMAN			YES	ACSF2,missense_variant,p.Pro247His,ENST00000427954,;ACSF2,missense_variant,p.Pro222His,ENST00000300441,NM_025149.4;ACSF2,missense_variant,p.Pro209His,ENST00000502667,;ACSF2,missense_variant,p.Pro179His,ENST00000504392,;ACSF2,missense_variant,p.Pro62His,ENST00000541920,;CHAD,downstream_gene_variant,,ENST00000508540,NM_001267.2;CHAD,downstream_gene_variant,,ENST00000258969,;CHAD,downstream_gene_variant,,ENST00000506187,;ACSF2,downstream_gene_variant,,ENST00000506582,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,non_coding_transcript_exon_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000508245,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,upstream_gene_variant,,ENST00000513101,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,upstream_gene_variant,,ENST00000510262,;ACSF2,downstream_gene_variant,,ENST00000570356,;							MODERATE	665/1848	P222H	ACSF2_HUMAN			Transcript		benign(0.033)	.	ENSP00000300441		CCDS11567.1			1	
DNAH11	0	LGGM	GRCh37	7	21641090	21641090	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	83	4	.	.	ENST00000328843.6:c.3502G>T	p.Gly1168Cys	p.G1168C	ENST00000328843		1168	Ggt/Tgt	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		87			HGNC	p.G1168C		DNAH11		SNV			1				ENST00000328843	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		G/C		T		3533/14167			deleterious(0.01)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Gly1168Cys,ENST00000328843,;DNAH11,missense_variant,p.Gly1168Cys,ENST00000409508,NM_001277115.1;							MODERATE	3502/13551					Transcript		probably_damaging(0.967)	.	ENSP00000475939		CCDS64602.1			1	
TMOD3	0	LGGM	GRCh37	15	52161499	52161499	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	78	4	.	.	ENST00000308580.7:c.212C>A	p.Ser71Ter	p.S71*	ENST00000308580	NM_014547.4	71	tCa/tAa	0	1	1	UPI0000137082	0	NA	ENST00000308580		ENSG00000138594	11873		82	0		HGNC	p.S71X		TMOD3		SNV							ENST00000308580	protein_coding	getma.org/?cm=var&var=hg19,15,52161499,C,A&fts=all		Pfam_domain:PF03250,hmmpanther:PTHR10901:SF15,hmmpanther:PTHR10901		S/*		A	NA	493/4668		NA		H0YNU8_HUMAN,H0YNJ8_HUMAN			YES	TMOD3,stop_gained,p.Ser71Ter,ENST00000308580,NM_014547.4;TMOD3,stop_gained,p.Ser71Ter,ENST00000544199,;							HIGH	212/1059	S71*	TMOD3_HUMAN			Transcript			.	ENSP00000308753		CCDS10145.1			1	
ISPD	0	LGGM	GRCh37	7	16131388	16131388	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	85	4	.	.	ENST00000407010.2:c.1288G>T	p.Ala430Ser	p.A430S	ENST00000407010	NM_001101426.3	430	Gct/Tct	0	1	1	UPI00015CFC06	0	NA	ENST00000407010		ENSG00000214960	37276		89	0.345		HGNC	p.A430S		ISPD		SNV			1				ENST00000407010	protein_coding	getma.org/?cm=var&var=hg19,7,16131388,C,A&fts=all				A/S		A	neutral	1288/1859		getma.org/?cm=msa&ty=f&p=ISPD_HUMAN&rb=280&re=451&var=A430S	tolerated(0.15)				YES	ISPD,missense_variant,p.Ala430Ser,ENST00000407010,NM_001101426.3;ISPD,missense_variant,p.Ala380Ser,ENST00000399310,NM_001101417.3;RP11-196O16.1,upstream_gene_variant,,ENST00000609163,;AC006035.1,upstream_gene_variant,,ENST00000438406,;							MODERATE	1288/1356	A430S	ISPD_HUMAN			Transcript		benign(0.053)	.	ENSP00000385478					1	
FILIP1L	0	LGGM	GRCh37	3	99567374	99567374	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	89	4	.	.	ENST00000354552.3:c.3146G>T	p.Ser1049Ile	p.S1049I	ENST00000354552	NM_182909.2	1049	aGc/aTc	0	1	1	UPI00001B24B2	0	NA	ENST00000354552		ENSG00000168386	24589		93	1.5		HGNC	p.S809I		FILIP1L		SNV							ENST00000495625	protein_coding	getma.org/?cm=var&var=hg19,3,99567374,C,A&fts=all		hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF4		S/I		A	low	3617/3970		getma.org/?cm=msa&ty=f&p=FIL1L_HUMAN&rb=850&re=1049&var=S1049I	deleterious(0)	C9JYJ6_HUMAN			YES	FILIP1L,missense_variant,p.Ser1049Ile,ENST00000331335,NM_001042459.1;FILIP1L,missense_variant,p.Ser1049Ile,ENST00000354552,NM_182909.2;FILIP1L,missense_variant,p.Ser809Ile,ENST00000383694,NM_014890.2;FILIP1L,missense_variant,p.Ser809Ile,ENST00000495625,;FILIP1L,missense_variant,p.Ser809Ile,ENST00000471562,NM_001282794.1;FILIP1L,missense_variant,p.Ser625Ile,ENST00000487087,NM_001282793.1;FILIP1L,missense_variant,p.Ser28Ile,ENST00000477258,;CMSS1,intron_variant,,ENST00000421999,NM_032359.3;CMSS1,intron_variant,,ENST00000463526,;CMSS1,intron_variant,,ENST00000496116,;FILIP1L,intron_variant,,ENST00000476723,;CMSS1,intron_variant,,ENST00000491299,;							MODERATE	3146/3408	S1049I	FIL1L_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000346560		CCDS43117.1			1	
NUP107	0	LGGM	GRCh37	12	69084481	69084481	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	56	4	.	.	ENST00000229179.4:c.258G>T	p.Ser86=	p.S86=	ENST00000229179	NM_020401.2	86	tcG/tcT	0	1	1	UPI000012FC0B	0		ENST00000229179		ENSG00000111581	29914		60			HGNC	p.S86S		NUP107		SNV							ENST00000229179	protein_coding			hmmpanther:PTHR13003		S		T		590/3653				F5GY77_HUMAN			YES	NUP107,synonymous_variant,p.=,ENST00000229179,NM_020401.2;NUP107,synonymous_variant,p.=,ENST00000539906,;NUP107,5_prime_UTR_variant,,ENST00000378905,;NUP107,5_prime_UTR_variant,,ENST00000538549,;RP11-637A17.2,upstream_gene_variant,,ENST00000500695,;RP11-637A17.2,upstream_gene_variant,,ENST00000502102,;RP11-637A17.2,upstream_gene_variant,,ENST00000433116,;NUP107,non_coding_transcript_exon_variant,,ENST00000537598,;NUP107,non_coding_transcript_exon_variant,,ENST00000535333,;NUP107,synonymous_variant,p.=,ENST00000535718,;NUP107,non_coding_transcript_exon_variant,,ENST00000545140,;NUP107,non_coding_transcript_exon_variant,,ENST00000539373,;NUP107,downstream_gene_variant,,ENST00000540453,;RPL7P42,downstream_gene_variant,,ENST00000481005,;							LOW	258/2778		NU107_HUMAN			Transcript			.	ENSP00000229179		CCDS8985.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	24	17	.	.	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41A	ENST00000349496	pathogenic	ENSG00000168036	2514		41	2.445		HGNC	p.T41A	rs121913412,COSM5664	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266124,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/A		G	medium	401/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	121/2346	T41A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
CDK16	0	LGGM	GRCh37	X	47085169	47085169	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	15	5	.	.	ENST00000276052.6:c.857-2A>C		p.X286_splice	ENST00000276052	NM_001170460.1			0	1		UPI000012DFE1	0		ENST00000357227		ENSG00000102225	8749		20			HGNC	-		CDK16		SNV							ENST00000457458	protein_coding							C		-/3144				Q96GA5_HUMAN,E5RJQ8_HUMAN,E5RJM2_HUMAN,E5RIY8_HUMAN,E5RIU4_HUMAN				CDK16,splice_acceptor_variant,,ENST00000457458,NM_033018.3;CDK16,splice_acceptor_variant,,ENST00000357227,NM_006201.4;CDK16,splice_acceptor_variant,,ENST00000276052,NM_001170460.1;CDK16,splice_acceptor_variant,,ENST00000518022,;CDK16,splice_acceptor_variant,,ENST00000517426,;CDK16,upstream_gene_variant,,ENST00000523344,;CDK16,downstream_gene_variant,,ENST00000519758,;CDK16,downstream_gene_variant,,ENST00000520893,;CDK16,downstream_gene_variant,,ENST00000518391,;CDK16,upstream_gene_variant,,ENST00000462827,;CDK16,downstream_gene_variant,,ENST00000522883,;CDK16,upstream_gene_variant,,ENST00000520141,;CDK16,downstream_gene_variant,,ENST00000523034,;CDK16,downstream_gene_variant,,ENST00000517997,;CDK16,downstream_gene_variant,,ENST00000517479,;CDK16,splice_acceptor_variant,,ENST00000428400,;CDK16,splice_acceptor_variant,,ENST00000522234,;CDK16,upstream_gene_variant,,ENST00000493213,;CDK16,upstream_gene_variant,,ENST00000523699,;CDK16,downstream_gene_variant,,ENST00000520295,;CDK16,upstream_gene_variant,,ENST00000523543,;CDK16,upstream_gene_variant,,ENST00000462483,;							HIGH	635/1491		CDK16_HUMAN			Transcript			.	ENSP00000349762		CCDS14276.1			1	
IDO1	0	LGGM	GRCh37	8	39781068	39781068	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	114	5	.	.	ENST00000518237.1:c.618C>A	p.Cys206Ter	p.C206*	ENST00000518237	NM_002164.5	206	tgC/tgA	0	1	1	UPI00000012AA	0	NA	ENST00000518237		ENSG00000131203	6059		119	0		HGNC	p.C206X		IDO1		SNV							ENST00000518237	protein_coding	getma.org/?cm=var&var=hg19,8,39781068,C,A&fts=all		Pfam_domain:PF01231,Superfamily_domains:SSF140959		C/*		A	NA	1257/2097		NA		E5RIX2_HUMAN,E5RH36_HUMAN,E5RGR8_HUMAN			YES	IDO1,stop_gained,p.Cys206Ter,ENST00000518237,NM_002164.5;IDO1,stop_gained,p.Cys206Ter,ENST00000522495,;IDO1,downstream_gene_variant,,ENST00000519154,;RP11-44K6.3,intron_variant,,ENST00000517623,;RP11-44K6.4,upstream_gene_variant,,ENST00000522970,;IDO1,3_prime_UTR_variant,,ENST00000253513,;IDO1,non_coding_transcript_exon_variant,,ENST00000521480,;IDO1,downstream_gene_variant,,ENST00000521636,;IDO1,upstream_gene_variant,,ENST00000523779,;							HIGH	618/1212	C206*	I23O1_HUMAN			Transcript			.	ENSP00000430950		CCDS47847.1			1	
RTN1	0	LGGM	GRCh37	14	60193665	60193665	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	4	5	.	.	ENST00000267484.5:c.1737C>G	p.Pro579=	p.P579=	ENST00000267484	NM_021136.2	579	ccC/ccG	0	1	1	UPI00001352DA	0		ENST00000267484		ENSG00000139970	10467		9			HGNC	p.P579P		RTN1		SNV							ENST00000267484	protein_coding			hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF26,Low_complexity_(Seg):seg		P		C		2073/3435				Q2NKQ5_HUMAN,Q2L7A7_HUMAN			YES	RTN1,synonymous_variant,p.=,ENST00000267484,NM_021136.2;RTN1,non_coding_transcript_exon_variant,,ENST00000432103,;							LOW	1737/2331		RTN1_HUMAN			Transcript			.	ENSP00000267484		CCDS9740.1			1	
RIGI	0	LGGM	GRCh37	9	32459467	32459467	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	8	5	.	.	ENST00000379883.2:c.2383G>C	p.Glu795Gln	p.E795Q	ENST00000379883	NM_014314.3	795	Gaa/Caa	0	1	1	UPI000013C841	0	getma.org/pdb.php?prot=DDX58_HUMAN&from=735&to=803&var=E795Q	ENST00000379883		ENSG00000107201	19102		13	0.345		HGNC	p.E795Q		DDX58		SNV			1				ENST00000379883	protein_coding	getma.org/?cm=var&var=hg19,9,32459467,C,G&fts=all		hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16		E/Q		G	neutral	2541/4353		getma.org/?cm=msa&ty=f&p=DDX58_HUMAN&rb=735&re=803&var=E795Q	tolerated(0.45)	A2A376_HUMAN			YES	DDX58,missense_variant,p.Glu750Gln,ENST00000379882,;DDX58,missense_variant,p.Glu795Gln,ENST00000379883,NM_014314.3;DDX58,missense_variant,p.Glu592Gln,ENST00000379868,;DDX58,missense_variant,p.Glu724Gln,ENST00000542096,;ACO1,downstream_gene_variant,,ENST00000309951,NM_002197.2;							MODERATE	2383/2778	E795Q	DDX58_HUMAN			Transcript		benign(0.001)	.	ENSP00000369213		CCDS6526.1			1	
KLHL34	0	LGGM	GRCh37	X	21675613	21675613	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	10	5	.	.	ENST00000379499.2:c.294T>C	p.Thr98=	p.T98=	ENST00000379499	NM_153270.1	98	acT/acC	0	1	1	UPI0000072CC4	0		ENST00000379499		ENSG00000185915	26634		15			HGNC	p.T98T		KLHL34		SNV							ENST00000379499	protein_coding			Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF66,SMART_domains:SM00225,Superfamily_domains:SSF54695		T		G		836/2840							YES	KLHL34,synonymous_variant,p.=,ENST00000379499,NM_153270.1;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;							LOW	294/1935		KLH34_HUMAN			Transcript			.	ENSP00000368813		CCDS14199.1			1	
GDF2	0	LGGM	GRCh37	10	48414346	48414346	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	16	6	.	.	ENST00000249598.1:c.522T>C	p.Asp174=	p.D174=	ENST00000249598	NM_016204.1	174	gaT/gaC	0	1	1	UPI000012B394	0		ENST00000249598		ENSG00000128802	4217		22			HGNC	p.D174D		GDF2		SNV							ENST00000249598	protein_coding			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Pfam_domain:PF00688		D		G		682/1936							YES	GDF2,synonymous_variant,p.=,ENST00000249598,NM_016204.1;							LOW	522/1290		GDF2_HUMAN			Transcript			.	ENSP00000249598		CCDS7219.1			1	
FAM179A	0	LGGM	GRCh37	2	29225412	29225412	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	6	.	.	ENST00000379558.4:c.438T>A	p.Asp146Glu	p.D146E	ENST00000379558	NM_199280.2	146	gaT/gaA	0	1	1	UPI00014F7B81	0	NA	ENST00000379558		ENSG00000189350	33715		26	0.895		HGNC	p.D146E		FAM179A		SNV							ENST00000379558	protein_coding	getma.org/?cm=var&var=hg19,2,29225412,T,A&fts=all		hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567		D/E		A	low	789/12691		getma.org/?cm=msa&ty=f&p=F179A_HUMAN&rb=35&re=234&var=D146E	tolerated(0.07)	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN			YES	FAM179A,missense_variant,p.Asp146Glu,ENST00000379558,NM_199280.2;FAM179A,missense_variant,p.Asp146Glu,ENST00000403861,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;							MODERATE	438/3060	D146E	F179A_HUMAN			Transcript		benign(0.016)	.	ENSP00000368876		CCDS1769.2			1	
PSD2	0	LGGM	GRCh37	5	139189078	139189078	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	5	7	.	.	ENST00000274710.3:c.53G>A	p.Arg18His	p.R18H	ENST00000274710	NM_032289.2	18	cGt/cAt	0	1	1	UPI0000073C6B	0	NA	ENST00000274710		ENSG00000146005	19092		12	0.345		HGNC	p.R18H	rs746917815	PSD2		SNV							ENST00000274710	protein_coding	getma.org/?cm=var&var=hg19,5,139189078,G,A&fts=all				R/H		A	neutral	258/4513	1.75E-05	getma.org/?cm=msa&ty=f&p=PSD2_HUMAN&rb=1&re=119&var=R18H	tolerated_low_confidence(0.17)				YES	PSD2,missense_variant,p.Arg18His,ENST00000274710,NM_032289.2;							MODERATE	53/2316	R18H	PSD2_HUMAN			Transcript		benign(0.124)	.	ENSP00000274710	8.24E-06	CCDS4216.1			1	
WDR25	0	LGGM	GRCh37	14	100847305	100847305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	11	7	.	.	ENST00000335290.6:c.44A>T	p.Tyr15Phe	p.Y15F	ENST00000335290	NM_024515.4	15	tAt/tTt	0	1	1	UPI0000D4CFD0	0	NA	ENST00000335290		ENSG00000176473	21064		18	1.955		HGNC	p.Y15F		WDR25		SNV							ENST00000554998	protein_coding	getma.org/?cm=var&var=hg19,14,100847305,A,T&fts=all				Y/F		T	medium	270/2123		getma.org/?cm=msa&ty=f&p=WDR25_HUMAN&rb=1&re=200&var=Y15F	deleterious(0)	G3V2K8_HUMAN			YES	WDR25,missense_variant,p.Tyr15Phe,ENST00000335290,NM_024515.4;WDR25,missense_variant,p.Tyr15Phe,ENST00000554175,;WDR25,missense_variant,p.Tyr15Phe,ENST00000402312,NM_001161476.1;WDR25,missense_variant,p.Tyr15Phe,ENST00000554998,;WARS,upstream_gene_variant,,ENST00000355338,NM_173701.1;WARS,upstream_gene_variant,,ENST00000556645,;WARS,upstream_gene_variant,,ENST00000358655,NM_213645.1;WDR25,upstream_gene_variant,,ENST00000542471,;WARS,upstream_gene_variant,,ENST00000557722,;WARS,upstream_gene_variant,,ENST00000556504,;WARS,upstream_gene_variant,,ENST00000553524,;WARS,upstream_gene_variant,,ENST00000553581,;WARS,upstream_gene_variant,,ENST00000553413,;WARS,upstream_gene_variant,,ENST00000556209,;WARS,upstream_gene_variant,,ENST00000554772,;WARS,upstream_gene_variant,,ENST00000553769,;WARS,upstream_gene_variant,,ENST00000554605,;WARS,upstream_gene_variant,,ENST00000556435,;WDR25,intron_variant,,ENST00000555775,;WDR25,intron_variant,,ENST00000554492,;WARS,upstream_gene_variant,,ENST00000557239,;WDR25,missense_variant,p.Tyr15Phe,ENST00000557710,;WARS,upstream_gene_variant,,ENST00000554331,;WARS,upstream_gene_variant,,ENST00000555063,;WARS,upstream_gene_variant,,ENST00000556783,;WARS,upstream_gene_variant,,ENST00000556579,;							MODERATE	44/1635	Y15F	WDR25_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000334148		CCDS32157.1			1	
ADM	0	LGGM	GRCh37	11	10328016	10328016	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	12	7	.	.	ENST00000528655.1:c.386A>T	p.Asp129Val	p.D129V	ENST00000528655		129	gAt/gTt	0	1		UPI00001255F0	0	getma.org/pdb.php?prot=ADML_HUMAN&from=1&to=154&var=D129V	ENST00000278175		ENSG00000148926	259		19	1.525		HGNC	p.D82V		ADM		SNV							ENST00000534464	protein_coding	getma.org/?cm=var&var=hg19,11,10328016,A,T&fts=all		hmmpanther:PTHR23414,hmmpanther:PTHR23414:SF3,Pfam_domain:PF00214,Prints_domain:PR00801		D/V		T	low	957/1885		getma.org/?cm=msa&ty=f&p=ADML_HUMAN&rb=1&re=154&var=D129V	tolerated(0.08)	E9PL83_HUMAN				ADM,missense_variant,p.Asp129Val,ENST00000528655,;ADM,missense_variant,p.Asp129Val,ENST00000278175,;ADM,missense_variant,p.Asp61Val,ENST00000530439,NM_001124.1;ADM,missense_variant,p.Asp82Val,ENST00000534464,;ADM,missense_variant,p.Asp129Val,ENST00000525063,;ADM,missense_variant,p.Arg139Ser,ENST00000526492,;ADM,downstream_gene_variant,,ENST00000528544,;ADM,downstream_gene_variant,,ENST00000524948,;RP11-351I24.1,upstream_gene_variant,,ENST00000526906,;AMPD3,upstream_gene_variant,,ENST00000527261,;							MODERATE	386/558	D129V	ADML_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000278175		CCDS7801.1			1	
CD276	0	LGGM	GRCh37	15	73995275	73995275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	7	7	.	.	ENST00000318443.5:c.581A>T	p.Gln194Leu	p.Q194L	ENST00000318443	NM_001024736.1	194	cAg/cTg	0	1	1	UPI0000034C25	0	getma.org/pdb.php?prot=CD276_HUMAN&from=147&to=231&var=Q194L	ENST00000318443		ENSG00000103855	19137		14	0.96		HGNC	p.Q194L		CD276		SNV							ENST00000318443	protein_coding	getma.org/?cm=var&var=hg19,15,73995275,A,T&fts=all		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF08205,SMART_domains:SM00407,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		Q/L		T	low	883/3469		getma.org/?cm=msa&ty=f&p=CD276_HUMAN&rb=147&re=231&var=Q194L	tolerated(0.12)	H0YN85_HUMAN,H0YLT8_HUMAN,H0YKQ9_HUMAN,H0YK59_HUMAN,H0YK40_HUMAN			YES	CD276,missense_variant,p.Gln194Leu,ENST00000318443,NM_001024736.1;CD276,missense_variant,p.Gln194Leu,ENST00000561213,;CD276,missense_variant,p.Gln48Leu,ENST00000537340,;CD276,intron_variant,,ENST00000318424,NM_025240.2;CD276,intron_variant,,ENST00000564751,;CD276,downstream_gene_variant,,ENST00000558689,;CD276,upstream_gene_variant,,ENST00000561176,;CD276,downstream_gene_variant,,ENST00000561260,;CD276,downstream_gene_variant,,ENST00000560995,;CD276,downstream_gene_variant,,ENST00000567189,;CD276,downstream_gene_variant,,ENST00000560786,;CD276,downstream_gene_variant,,ENST00000561416,;CD276,downstream_gene_variant,,ENST00000563584,;CD276,3_prime_UTR_variant,,ENST00000560928,;CD276,3_prime_UTR_variant,,ENST00000567582,;CD276,upstream_gene_variant,,ENST00000559073,;CD276,upstream_gene_variant,,ENST00000557951,;							MODERATE	581/1605	Q194L	CD276_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000320084		CCDS32288.1			1	
GHRH	0	LGGM	GRCh37	20	35884870	35884870	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	7	7	.	.	ENST00000373614.2:c.115A>C	p.Asn39His	p.N39H	ENST00000373614		39	Aac/Cac	0	1		UPI00000534AE	0	NA	ENST00000237527		ENSG00000118702	4265		14	1.895		HGNC	p.N39H		GHRH		SNV							ENST00000237527	protein_coding	getma.org/?cm=var&var=hg19,20,35884870,T,G&fts=all		Pfam_domain:PF00123,PROSITE_patterns:PS00260,hmmpanther:PTHR11213,SMART_domains:SM00070		N/H		G	low	122/461		getma.org/?cm=msa&ty=f&p=SLIB_HUMAN&rb=12&re=79&var=N39H	deleterious(0)					GHRH,missense_variant,p.Asn39His,ENST00000373614,;GHRH,missense_variant,p.Asn39His,ENST00000237527,NM_001184731.1,NM_021081.4;GHRH,missense_variant,p.Asn39His,ENST00000373611,;							MODERATE	115/327	N39H	SLIB_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000237527		CCDS13292.1			1	
CNKSR3	0	LGGM	GRCh37	6	154732245	154732245	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	27	7	.	.	ENST00000607772.1:c.1102T>G	p.Ser368Ala	p.S368A	ENST00000607772	NM_173515.2	368	Tcc/Gcc	0	1	1	UPI000020D0EA	0	NA	ENST00000607772		ENSG00000153721	23034		34	0.14		HGNC	p.S193A	rs780871479	CNKSR3	0.000122	SNV				0.00197			ENST00000433165	protein_coding	getma.org/?cm=var&var=hg19,6,154732245,A,C&fts=all		hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19,Pfam_domain:PF06663		S/A		C	neutral	1647/21063	0.000467	getma.org/?cm=msa&ty=f&p=CNKR3_HUMAN&rb=330&re=546&var=S368A	tolerated(0.96)	C9JN62_HUMAN,C9IZX4_HUMAN			YES	CNKSR3,missense_variant,p.Ser368Ala,ENST00000607772,NM_173515.2;CNKSR3,missense_variant,p.Ser193Ala,ENST00000433165,;CNKSR3,missense_variant,p.Ser288Ala,ENST00000479339,;CNKSR3,missense_variant,p.Ser130Ala,ENST00000424998,;CNKSR3,downstream_gene_variant,,ENST00000454664,;	0.000348						MODERATE	1102/1668	S368A	CNKR3_HUMAN	0.00339		Transcript		benign(0.03)	common_variant	ENSP00000475915	0.000684	CCDS5246.1	0.00335		1	
C5orf28	0	LGGM	GRCh37	5	43453763	43453763	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	12	8	.	.	ENST00000500337.2:c.309A>G	p.Leu103=	p.L103=	ENST00000500337		103	ttA/ttG	0	1		UPI000006FA64	0		ENST00000397080		ENSG00000151881	26139		20			HGNC	p.L103L		C5orf28		SNV							ENST00000500337	protein_coding			hmmpanther:PTHR13628,hmmpanther:PTHR13628:SF1		L		C		447/2338				Q6GMT5_HUMAN,D6RAV6_HUMAN				C5orf28,synonymous_variant,p.=,ENST00000500337,;C5orf28,synonymous_variant,p.=,ENST00000397080,NM_022483.4;C5orf28,synonymous_variant,p.=,ENST00000512085,;C5orf28,synonymous_variant,p.=,ENST00000506860,;C5orf28,intron_variant,,ENST00000537319,;C5orf28,intron_variant,,ENST00000510130,;C5orf28,intron_variant,,ENST00000511525,;							LOW	309/648		CE028_HUMAN			Transcript			.	ENSP00000380270		CCDS3945.1			1	
RIGI	0	LGGM	GRCh37	9	32459418	32459418	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	7	9	.	.	ENST00000379883.2:c.2432G>C	p.Arg811Thr	p.R811T	ENST00000379883	NM_014314.3	811	aGa/aCa	0	1	1	UPI000013C841	0	getma.org/pdb.php?prot=DDX58_HUMAN&from=804&to=925&var=R811T	ENST00000379883		ENSG00000107201	19102		16	1.795		HGNC	p.R811T		DDX58		SNV			1				ENST00000379883	protein_coding	getma.org/?cm=var&var=hg19,9,32459418,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16,Pfam_domain:PF11648		R/T		G	low	2590/4353		getma.org/?cm=msa&ty=f&p=DDX58_HUMAN&rb=804&re=925&var=R811T	tolerated(0.06)	A2A376_HUMAN			YES	DDX58,missense_variant,p.Arg766Thr,ENST00000379882,;DDX58,missense_variant,p.Arg811Thr,ENST00000379883,NM_014314.3;DDX58,missense_variant,p.Arg608Thr,ENST00000379868,;DDX58,missense_variant,p.Arg740Thr,ENST00000542096,;ACO1,downstream_gene_variant,,ENST00000309951,NM_002197.2;							MODERATE	2432/2778	R811T	DDX58_HUMAN			Transcript		benign(0.125)	.	ENSP00000369213		CCDS6526.1			1	
LRFN5	0	LGGM	GRCh37	14	42360876	42360876	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	18	9	.	.	ENST00000298119.4:c.1809T>C	p.Cys603=	p.C603=	ENST00000298119	NM_152447.3	603	tgT/tgC	0	1	1	UPI000000DA1E	0		ENST00000298119		ENSG00000165379	20360		27			HGNC	p.C603C	rs774956651	LRFN5		SNV							ENST00000298119	protein_coding			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF3		C		C		2998/3723	4.50E-05						YES	LRFN5,synonymous_variant,p.=,ENST00000298119,NM_152447.3;LRFN5,intron_variant,,ENST00000554171,;LRFN5,intron_variant,,ENST00000554120,;							LOW	1809/2160		LRFN5_HUMAN			Transcript			.	ENSP00000298119	2.47E-05	CCDS9678.1			1	
ADAM23	0	LGGM	GRCh37	2	207435505	207435505	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	8	9	.	.	ENST00000264377.3:c.1536T>A	p.Ala512=	p.A512=	ENST00000264377	NM_003812.3	512	gcT/gcA	0	1	1	UPI0000044543	0		ENST00000264377		ENSG00000114948	202		17			HGNC	p.A512A		ADAM23		SNV							ENST00000374416	protein_coding			Superfamily_domains:SSF57552,SMART_domains:SM00050,Pfam_domain:PF00200,Gene3D:3.40.390.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50214		A		A		1864/6327				Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN			YES	ADAM23,synonymous_variant,p.=,ENST00000264377,NM_003812.3;ADAM23,synonymous_variant,p.=,ENST00000374416,;ADAM23,synonymous_variant,p.=,ENST00000374415,;							LOW	1536/2499		ADA23_HUMAN			Transcript			.	ENSP00000264377		CCDS2369.1			1	
UBR5	0	LGGM	GRCh37	8	103297496	103297496	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	9	.	.	ENST00000520539.1:c.5555A>T	p.Gln1852Leu	p.Q1852L	ENST00000520539	NM_015902.5	1852	cAa/cTa	0	1	1	UPI0000129BCB	0	NA	ENST00000520539		ENSG00000104517	16806		38	2.05		HGNC	p.Q1852L		UBR5		SNV							ENST00000220959	protein_coding	getma.org/?cm=var&var=hg19,8,103297496,T,A&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77		Q/L		A	medium	6162/10297		getma.org/?cm=msa&ty=f&p=UBR5_HUMAN&rb=1849&re=2048&var=Q1852L	deleterious(0)	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN			YES	UBR5,missense_variant,p.Gln1852Leu,ENST00000520539,NM_015902.5;UBR5,missense_variant,p.Gln1852Leu,ENST00000220959,NM_001282873.1;UBR5,missense_variant,p.Gln1846Leu,ENST00000521922,;UBR5,downstream_gene_variant,,ENST00000519528,;							MODERATE	5555/8400	Q1852L	UBR5_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000429084		CCDS34933.1			1	
RGS6	0	LGGM	GRCh37	14	72944995	72944995	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	9	9	.	.	ENST00000553525.1:c.812A>G	p.Gln271Arg	p.Q271R	ENST00000553525	NM_001204424.1	271	cAg/cGg	0	1		UPI00001698D1	0	getma.org/pdb.php?prot=RGS6_HUMAN&from=250&to=319&var=Q271R	ENST00000553530		ENSG00000182732	10002		18	1.355		HGNC	p.Q271R		RGS6		SNV							ENST00000343854	protein_coding	getma.org/?cm=var&var=hg19,14,72944995,A,G&fts=all		Gene3D:4.10.260.10,Pfam_domain:PF00631,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF27,SMART_domains:SM00224,Superfamily_domains:SSF48670		Q/R		G	low	1019/3105		getma.org/?cm=msa&ty=f&p=RGS6_HUMAN&rb=250&re=319&var=Q271R	tolerated(0.65)	Q2M3K2_HUMAN,B7Z2N1_HUMAN				RGS6,missense_variant,p.Gln271Arg,ENST00000553530,NM_004296.5,NM_001204422.1,NM_001204421.1,NM_001204418.1,NM_001204417.1,NM_001204420.1;RGS6,missense_variant,p.Gln271Arg,ENST00000553525,NM_001204424.1;RGS6,missense_variant,p.Gln202Arg,ENST00000434263,;RGS6,missense_variant,p.Gln271Arg,ENST00000555571,;RGS6,missense_variant,p.Gln271Arg,ENST00000556437,NM_001204416.1;RGS6,missense_variant,p.Gln271Arg,ENST00000355512,;RGS6,missense_variant,p.Gln271Arg,ENST00000407322,;RGS6,missense_variant,p.Gln271Arg,ENST00000404301,;RGS6,missense_variant,p.Gln271Arg,ENST00000406236,;RGS6,missense_variant,p.Gln271Arg,ENST00000402788,NM_001204423.1;RGS6,missense_variant,p.Gln271Arg,ENST00000343854,NM_001204419.1;RGS6,missense_variant,p.Gln132Arg,ENST00000554782,;RGS6,non_coding_transcript_exon_variant,,ENST00000555368,;RGS6,downstream_gene_variant,,ENST00000553690,;RGS6,missense_variant,p.Gln271Arg,ENST00000554474,;RGS6,downstream_gene_variant,,ENST00000554734,;							MODERATE	812/1419	Q271R	RGS6_HUMAN			Transcript		benign(0.135)	.	ENSP00000452331		CCDS9808.1			1	
AGO2	0	LGGM	GRCh37	8	141570611	141570611	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	4	10	.	.	ENST00000220592.5:c.519-2A>T		p.X173_splice	ENST00000220592	NM_012154.3			0	1	1	UPI0000168652	0		ENST00000220592		ENSG00000123908	3263		14			HGNC	-		AGO2		SNV							ENST00000220592	protein_coding							A		-/3572				E5RJY2_HUMAN			YES	AGO2,splice_acceptor_variant,,ENST00000220592,NM_012154.3;AGO2,splice_acceptor_variant,,ENST00000519980,NM_001164623.1;AGO2,splice_acceptor_variant,,ENST00000523609,;AGO2,upstream_gene_variant,,ENST00000521325,;							HIGH	519/2580		AGO2_HUMAN			Transcript			.	ENSP00000220592		CCDS6380.1			1	
BOC	0	LGGM	GRCh37	3	112991471	112991471	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	14	10	.	.	ENST00000495514.1:c.882A>T	p.Ser294=	p.S294=	ENST00000495514		294	tcA/tcT	0	1		UPI0000072E0E	0		ENST00000355385		ENSG00000144857	17173		24			HGNC	p.S294S		BOC		SNV							ENST00000495514	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		T		1221/4278				C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,synonymous_variant,p.=,ENST00000495514,;BOC,synonymous_variant,p.=,ENST00000355385,NM_033254.2;BOC,synonymous_variant,p.=,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000498710,;BOC,upstream_gene_variant,,ENST00000497495,;BOC,downstream_gene_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,downstream_gene_variant,,ENST00000471963,;							LOW	882/3345		BOC_HUMAN			Transcript			.	ENSP00000347546		CCDS2971.1			1	
PM20D1	0	LGGM	GRCh37	1	205801733	205801733	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	13	10	.	.	ENST00000367136.4:c.1278T>A	p.Thr426=	p.T426=	ENST00000367136	NM_152491.4	426	acT/acA	0	1	1	UPI00003665FD	0		ENST00000367136		ENSG00000162877	26518		23			HGNC	p.T426T		PM20D1		SNV							ENST00000367136	protein_coding			hmmpanther:PTHR11014:SF66,hmmpanther:PTHR11014,Pfam_domain:PF01546,Gene3D:3.40.630.10,Superfamily_domains:SSF53187		T		T		1323/2152							YES	PM20D1,synonymous_variant,p.=,ENST00000367136,NM_152491.4;PM20D1,non_coding_transcript_exon_variant,,ENST00000460624,;PM20D1,intron_variant,,ENST00000461807,;PM20D1,upstream_gene_variant,,ENST00000469861,;							LOW	1278/1509		P20D1_HUMAN			Transcript			.	ENSP00000356104		CCDS1460.1			1	
PARS2	0	LGGM	GRCh37	1	55224162	55224162	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	17	10	.	.	ENST00000371279.3:c.673C>T	p.Leu225=	p.L225=	ENST00000371279	NM_152268.3	225	Ctg/Ttg	0	1	1	UPI00000492D2	0		ENST00000371279		ENSG00000162396	30563		27			HGNC	p.L225L		PARS2		SNV							ENST00000371279	protein_coding			Gene3D:3.30.930.10,Pfam_domain:PF00587,PROSITE_profiles:PS50862,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF3,Superfamily_domains:SSF55681		L		A		756/2347							YES	PARS2,synonymous_variant,p.=,ENST00000371279,NM_152268.3;							LOW	673/1428		SYPM_HUMAN			Transcript			.	ENSP00000360327		CCDS597.1			1	
ATP4A	0	LGGM	GRCh37	19	36050715	36050715	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	15	10	.	.	ENST00000262623.3:c.1048A>T	p.Thr350Ser	p.T350S	ENST00000262623	NM_000704.2	350	Act/Tct	0	1	1	UPI000016A49B	0	getma.org/pdb.php?prot=ATP4A_HUMAN&from=146&to=377&var=T350S	ENST00000262623		ENSG00000105675	819		25	2.61		HGNC	p.T350S		ATP4A		SNV							ENST00000262623	protein_coding	getma.org/?cm=var&var=hg19,19,36050715,T,A&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Transmembrane_helices:TMhelix		T/S		A	medium	1077/3709		getma.org/?cm=msa&ty=f&p=ATP4A_HUMAN&rb=146&re=377&var=T350S	deleterious(0)				YES	ATP4A,missense_variant,p.Thr350Ser,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;							MODERATE	1048/3108	T350S	ATP4A_HUMAN			Transcript		possibly_damaging(0.709)	.	ENSP00000262623		CCDS12467.1			1	
CNGB1	0	LGGM	GRCh37	16	57921931	57921931	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	15	10	.	.	ENST00000251102.8:c.3290T>A	p.Leu1097Gln	p.L1097Q	ENST00000251102	NM_001297.4	1097	cTg/cAg	0	1	1	UPI000013CCDF	0	NA	ENST00000251102		ENSG00000070729	2151		25	2.125		HGNC	p.L1097Q		CNGB1		SNV			1				ENST00000251102	protein_coding	getma.org/?cm=var&var=hg19,16,57921931,A,T&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386		L/Q		T	medium	3351/4179		getma.org/?cm=msa&ty=f&p=CNGB1_HUMAN&rb=1072&re=1251&var=L1097Q	tolerated(0.06)	H3BQC3_HUMAN			YES	CNGB1,missense_variant,p.Leu1091Gln,ENST00000564448,NM_001286130.1;CNGB1,missense_variant,p.Leu1097Gln,ENST00000251102,NM_001297.4;CNGB1,intron_variant,,ENST00000565942,;							MODERATE	3290/3756	L1097Q	CNGB1_HUMAN			Transcript		benign(0.122)	.	ENSP00000251102		CCDS42169.1			1	
HAVCR1	0	LGGM	GRCh37	5	156482438	156482438	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	7	11	.	.	ENST00000339252.3:c.153A>G	p.Ser51=	p.S51=	ENST00000339252	NM_012206.2	51	tcA/tcG	0	1	1	UPI000006EEEC	0		ENST00000339252		ENSG00000113249	17866		18			HGNC	p.S51S		HAVCR1		SNV							ENST00000522693	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR15498:SF8,hmmpanther:PTHR15498,PROSITE_profiles:PS50835		S		C		686/1845				E5RIF6_HUMAN			YES	HAVCR1,synonymous_variant,p.=,ENST00000339252,NM_012206.2;HAVCR1,synonymous_variant,p.=,ENST00000425854,;HAVCR1,synonymous_variant,p.=,ENST00000522693,;HAVCR1,synonymous_variant,p.=,ENST00000544197,NM_001099414.1;HAVCR1,synonymous_variant,p.=,ENST00000523175,NM_001173393.1;HAVCR1,synonymous_variant,p.=,ENST00000518745,;							LOW	153/1095		HAVR1_HUMAN			Transcript			.	ENSP00000344844		CCDS43392.1			1	
CD97	0	LGGM	GRCh37	19	14507242	14507242	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	11	.	.	ENST00000242786.5:c.435G>A	p.Leu145=	p.L145=	ENST00000242786	NM_078481.3	145	ctG/ctA	0	1	1	UPI0000161C9A	0		ENST00000242786		ENSG00000123146	1711		40			HGNC	p.L145L		CD97		SNV							ENST00000357355	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_profiles:PS50026,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF253,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		L		A		515/3188							YES	CD97,synonymous_variant,p.=,ENST00000242786,NM_078481.3;CD97,synonymous_variant,p.=,ENST00000357355,NM_001025160.2;CD97,intron_variant,,ENST00000358600,NM_001784.4;CD97,intron_variant,,ENST00000586517,;CD97,intron_variant,,ENST00000592261,;CD97,downstream_gene_variant,,ENST00000591080,;CD97,intron_variant,,ENST00000587728,;CD97,non_coding_transcript_exon_variant,,ENST00000587535,;CD97,non_coding_transcript_exon_variant,,ENST00000591737,;CD97,upstream_gene_variant,,ENST00000586849,;CD97,upstream_gene_variant,,ENST00000593028,;CD97,upstream_gene_variant,,ENST00000590567,;CD97,upstream_gene_variant,,ENST00000592341,;CD97,upstream_gene_variant,,ENST00000587319,;							LOW	435/2508		CD97_HUMAN			Transcript			.	ENSP00000242786		CCDS32929.1			1	
RTTN	0	LGGM	GRCh37	18	67776955	67776955	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	15	12	.	.	ENST00000255674.6:c.3684-2A>T		p.X1228_splice	ENST00000255674	NM_173630.3			0	1	1	UPI0000201E92	0		ENST00000255674		ENSG00000176225	18654		27			HGNC	-		RTTN		SNV			1				ENST00000255674	protein_coding							A		-/7326							YES	RTTN,splice_acceptor_variant,,ENST00000255674,NM_173630.3;RTTN,splice_acceptor_variant,,ENST00000454359,;RTTN,splice_acceptor_variant,,ENST00000437017,;RTTN,upstream_gene_variant,,ENST00000581709,;RTTN,splice_acceptor_variant,,ENST00000581161,;RTTN,splice_acceptor_variant,,ENST00000583043,;							HIGH	3684/6681		RTTN_HUMAN			Transcript			.	ENSP00000255674		CCDS42443.1			1	
SHROOM3	0	LGGM	GRCh37	4	77661911	77661911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	11	12	.	.	ENST00000296043.6:c.2585C>A	p.Pro862His	p.P862H	ENST00000296043	NM_020859.3	862	cCc/cAc	0	1	1	UPI0000E5AC1C	0	NA	ENST00000296043		ENSG00000138771	30422		23	1.5		HGNC	p.P862H		SHROOM3		SNV			1				ENST00000296043	protein_coding	getma.org/?cm=var&var=hg19,4,77661911,C,A&fts=all		hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012		P/H		A	low	3538/11020		getma.org/?cm=msa&ty=f&p=SHRM3_HUMAN&rb=122&re=865&var=P862H	deleterious(0)				YES	SHROOM3,missense_variant,p.Pro862His,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,;							MODERATE	2585/5991	P862H	SHRM3_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000296043		CCDS3579.2			1	
VSX1	0	LGGM	GRCh37	20	25056926	25056926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	15	12	.	.	ENST00000376709.4:c.1069C>T	p.Pro357Ser	p.P357S	ENST00000376709	NM_014588.5	357	Ccc/Tcc	0	1	1	UPI0000138E43	0	NA	ENST00000376709		ENSG00000100987	12723		27	0.69		HGNC	p.P357S		VSX1		SNV			1				ENST00000376709	protein_coding	getma.org/?cm=var&var=hg19,20,25056926,G,A&fts=all		hmmpanther:PTHR24323		P/S		A	neutral	1333/2155		getma.org/?cm=msa&ty=f&p=VSX1_HUMAN&rb=222&re=365&var=P357S	deleterious(0.02)				YES	VSX1,missense_variant,p.Pro357Ser,ENST00000376709,NM_014588.5;VSX1,intron_variant,,ENST00000429762,NM_001256272.1;VSX1,intron_variant,,ENST00000444511,NM_001256271.1;VSX1,intron_variant,,ENST00000424574,;VSX1,intron_variant,,ENST00000451258,;VSX1,downstream_gene_variant,,ENST00000376707,NM_199425.2;VSX1,intron_variant,,ENST00000409285,;VSX1,intron_variant,,ENST00000409958,;VSX1,downstream_gene_variant,,ENST00000557285,;							MODERATE	1069/1098	P357S	VSX1_HUMAN			Transcript		benign(0)	.	ENSP00000365899		CCDS13168.1			1	
CCDC157	0	LGGM	GRCh37	22	30767644	30767644	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	19	12	.	.	ENST00000405659.1:c.1051A>G	p.Ser351Gly	p.S351G	ENST00000405659		351	Agt/Ggt	0	1		UPI0001610F7B	0	NA	ENST00000338306		ENSG00000187860	33854		31	1.1		HGNC	p.S351G		CCDC157		SNV							ENST00000405659	protein_coding	getma.org/?cm=var&var=hg19,22,30767644,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF173		S/G		G	low	1711/3001		getma.org/?cm=msa&ty=f&p=CC157_HUMAN&rb=1&re=750&var=S351G	tolerated(0.11)	E7EWT0_HUMAN,E7ETG3_HUMAN,A8MUK5_HUMAN				CCDC157,missense_variant,p.Ser351Gly,ENST00000405659,;CCDC157,missense_variant,p.Ser351Gly,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,;							MODERATE	1051/2259	S351G	CC157_HUMAN			Transcript		benign(0.099)	.	ENSP00000343087		CCDS33632.2			1	
ROPN1L	0	LGGM	GRCh37	5	10448493	10448493	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	13	13	.	.	ENST00000503804.1:c.253C>A	p.Gln85Lys	p.Q85K	ENST00000503804		85	Cag/Aag	0	1		UPI000013D9F3	0	NA	ENST00000274134		ENSG00000145491	24060		26	2.955		HGNC	p.Q85K		ROPN1L		SNV							ENST00000503804	protein_coding	getma.org/?cm=var&var=hg19,5,10448493,C,A&fts=all		hmmpanther:PTHR14952:SF2,hmmpanther:PTHR14952		Q/K		A	medium	545/1066		getma.org/?cm=msa&ty=f&p=ROP1L_HUMAN&rb=1&re=209&var=Q85K	deleterious(0.05)					ROPN1L,missense_variant,p.Gln85Lys,ENST00000503804,;ROPN1L,missense_variant,p.Gln85Lys,ENST00000274134,NM_031916.4,NM_001201466.1;ROPN1L,splice_region_variant,,ENST00000510520,;ROPN1L,splice_region_variant,,ENST00000512022,;ROPN1L,splice_region_variant,,ENST00000515762,;							MODERATE	253/693	Q85K	ROP1L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000274134		CCDS3879.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H081081	H081081N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	24	30	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		54			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
H2AFY	0	LGGM	GRCh37	5	134724697	134724697	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	18	14	.	.	ENST00000511689.1:c.87G>A	p.Leu29=	p.L29=	ENST00000511689	NM_138610.2	29	ctG/ctA	0	1		UPI00000723ED	0		ENST00000510038		ENSG00000113648	4740		32			HGNC	p.L29L		H2AFY		SNV							ENST00000304332	protein_coding			hmmpanther:PTHR23430:SF20,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,PIRSF_domain:PIRSF037942,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620		L		T		219/1314								H2AFY,synonymous_variant,p.=,ENST00000511689,NM_138610.2,NM_001040158.1;H2AFY,synonymous_variant,p.=,ENST00000304332,NM_004893.2;H2AFY,synonymous_variant,p.=,ENST00000312469,NM_138609.2;H2AFY,synonymous_variant,p.=,ENST00000510038,;H2AFY,synonymous_variant,p.=,ENST00000423969,;H2AFY,non_coding_transcript_exon_variant,,ENST00000360597,;H2AFY,non_coding_transcript_exon_variant,,ENST00000508785,;H2AFY,non_coding_transcript_exon_variant,,ENST00000513210,;H2AFY,non_coding_transcript_exon_variant,,ENST00000506532,;H2AFY,non_coding_transcript_exon_variant,,ENST00000508962,;H2AFY,intron_variant,,ENST00000508120,;H2AFY,synonymous_variant,p.=,ENST00000506671,;H2AFY,non_coding_transcript_exon_variant,,ENST00000507868,;H2AFY,non_coding_transcript_exon_variant,,ENST00000506218,;							LOW	87/1119		H2AY_HUMAN			Transcript			.	ENSP00000424971		CCDS4185.1			1	
HOXA5	0	LGGM	GRCh37	7	27182672	27182672	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	23	14	.	.	ENST00000222726.3:c.555A>T	p.Ile185=	p.I185=	ENST00000222726	NM_019102.3	185	atA/atT	0	1	1	UPI000006CEBE	0		ENST00000222726		ENSG00000106004	5106		37			HGNC	p.I185I		HOXA5		SNV							ENST00000222726	protein_coding			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF166,Superfamily_domains:SSF46689		I		A		616/1657							YES	HOXA5,synonymous_variant,p.=,ENST00000222726,NM_019102.3;HOXA6,downstream_gene_variant,,ENST00000222728,NM_024014.3;HOXA3,upstream_gene_variant,,ENST00000522788,;HOXA3,upstream_gene_variant,,ENST00000521779,;HOXA-AS3,intron_variant,,ENST00000521197,;HOXA-AS3,intron_variant,,ENST00000518848,;HOXA-AS3,upstream_gene_variant,,ENST00000518947,;HOXA-AS3,upstream_gene_variant,,ENST00000521231,;RP1-170O19.22,intron_variant,,ENST00000467897,;HOXA3,intron_variant,,ENST00000518451,;HOXA6,downstream_gene_variant,,ENST00000521478,;HOXA3,upstream_gene_variant,,ENST00000521401,;RP1-170O19.23,downstream_gene_variant,,ENST00000498652,;HOXA5,upstream_gene_variant,,ENST00000520854,;							LOW	555/813		HXA5_HUMAN			Transcript			.	ENSP00000222726		CCDS5406.1			1	
PARP1	0	LGGM	GRCh37	1	226555966	226555966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	14	.	.	ENST00000366794.5:c.2211C>T	p.Tyr737=	p.Y737=	ENST00000366794	NM_001618.3	737	taC/taT	0	1	1	UPI000013D92D	0		ENST00000366794		ENSG00000143799	270		39			HGNC	p.Y737Y		PARP1		SNV							ENST00000366794	protein_coding			PROSITE_profiles:PS51060,hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,Gene3D:1.20.142.10,Pfam_domain:PF02877,PIRSF_domain:PIRSF000489,Superfamily_domains:SSF47587		Y		A		2355/3958				Q96P95_HUMAN			YES	PARP1,synonymous_variant,p.=,ENST00000366794,NM_001618.3;PARP1,non_coding_transcript_exon_variant,,ENST00000490921,;PARP1,non_coding_transcript_exon_variant,,ENST00000498787,;PARP1,upstream_gene_variant,,ENST00000463968,;							LOW	2211/3045		PARP1_HUMAN			Transcript			.	ENSP00000355759		CCDS1554.1			1	
ACTL7A	0	LGGM	GRCh37	9	111625207	111625207	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	17	14	.	.	ENST00000333999.3:c.605C>T	p.Ser202Leu	p.S202L	ENST00000333999	NM_006687.2	202	tCg/tTg	0	1	1	UPI0000125052	0	getma.org/pdb.php?prot=ACL7A_HUMAN&from=66&to=435&var=S202L	ENST00000333999		ENSG00000187003	161		31	1.815		HGNC	p.S202L	rs761482848	ACTL7A	6.74E-05	SNV							ENST00000333999	protein_coding	getma.org/?cm=var&var=hg19,9,111625207,C,T&fts=all		hmmpanther:PTHR11937:SF167,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		S/L		T	low	605/1433		getma.org/?cm=msa&ty=f&p=ACL7A_HUMAN&rb=66&re=435&var=S202L	deleterious(0)				YES	ACTL7A,missense_variant,p.Ser202Leu,ENST00000333999,NM_006687.2;IKBKAP,downstream_gene_variant,,ENST00000374647,NM_003640.3;IKBKAP,downstream_gene_variant,,ENST00000495759,;							MODERATE	605/1308	S202L	ACL7A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000334300	8.24E-06	CCDS6772.1			1	
RIMBP2	0	LGGM	GRCh37	12	130963494	130963494	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	1	15	.	.	ENST00000261655.4:c.65T>A	p.Leu22His	p.L22H	ENST00000261655	NM_015347.4	22	cTc/cAc	0	1	1	UPI00001C1F42	0	NA	ENST00000261655		ENSG00000060709	30339		16	2.51		HGNC	p.L22H		RIMBP2		SNV							ENST00000261655	protein_coding	getma.org/?cm=var&var=hg19,12,130963494,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18		L/H		T	medium	229/6321		getma.org/?cm=msa&ty=f&p=RIMB2_HUMAN&rb=1&re=171&var=L22H	deleterious(0)	F5H3X3_HUMAN			YES	RIMBP2,missense_variant,p.Leu22His,ENST00000261655,NM_015347.4;RIMBP2,5_prime_UTR_variant,,ENST00000536002,;RIMBP2,5_prime_UTR_variant,,ENST00000535703,;RIMBP2,non_coding_transcript_exon_variant,,ENST00000544568,;							MODERATE	65/3159	L22H	RIMB2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000261655		CCDS31925.1			1	
KDM4D	0	LGGM	GRCh37	11	94731252	94731252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	22	15	.	.	ENST00000335080.5:c.716G>A	p.Gly239Glu	p.G239E	ENST00000335080	NM_018039.2	239	gGg/gAg	0	1	1	UPI00001A82EC	0	getma.org/pdb.php?prot=KDM4D_HUMAN&from=179&to=295&var=G239E	ENST00000335080		ENSG00000186280	25498		37	-1.49		HGNC	p.G239E		KDM4D		SNV							ENST00000335080	protein_coding	getma.org/?cm=var&var=hg19,11,94731252,G,A&fts=all		Superfamily_domains:SSF51197,SMART_domains:SM00558,Pfam_domain:PF02373,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF21,PROSITE_profiles:PS51184		G/E		A	neutral	1548/2978		getma.org/?cm=msa&ty=f&p=KDM4D_HUMAN&rb=179&re=295&var=G239E	tolerated(1)				YES	KDM4D,missense_variant,p.Gly239Glu,ENST00000335080,NM_018039.2;KDM4D,missense_variant,p.Gly239Glu,ENST00000536741,;							MODERATE	716/1572	G239E	KDM4D_HUMAN			Transcript		benign(0.001)	.	ENSP00000334181		CCDS8302.1			1	
CXorf22	0	LGGM	GRCh37	X	35969323	35969323	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	23	15	.	.	ENST00000297866.5:c.732A>G	p.Leu244=	p.L244=	ENST00000297866	NM_152632.3	244	ttA/ttG	0	1	1	UPI000022DD27	0		ENST00000297866		ENSG00000165164	28546		38			HGNC	p.L244L		CXorf22		SNV							ENST00000297866	protein_coding			hmmpanther:PTHR23053		L		G		798/3608							YES	CXorf22,synonymous_variant,p.=,ENST00000297866,NM_152632.3;CXorf22,synonymous_variant,p.=,ENST00000493930,;							LOW	732/2931		CX022_HUMAN			Transcript			.	ENSP00000297866		CCDS14237.2			1	
FTHL17	0	LGGM	GRCh37	X	31089949	31089949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	16	.	.	ENST00000359202.3:c.122A>T	p.Tyr41Phe	p.Y41F	ENST00000359202	NM_031894.2	41	tAc/tTc	0	1	1	UPI00000421FF	0	getma.org/pdb.php?prot=FHL17_HUMAN&from=18&to=159&var=Y41F	ENST00000359202		ENSG00000132446	3987		36	1.87		HGNC	p.Y41F		FTHL17		SNV							ENST00000359202	protein_coding	getma.org/?cm=var&var=hg19,X,31089949,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF33,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240		Y/F		A	low	222/811		getma.org/?cm=msa&ty=f&p=FHL17_HUMAN&rb=18&re=159&var=Y41F	tolerated(0.09)				YES	FTHL17,missense_variant,p.Tyr41Phe,ENST00000359202,NM_031894.2;							MODERATE	122/552	Y41F	FHL17_HUMAN			Transcript		benign(0.291)	.	ENSP00000368207		CCDS14227.1			1	
SH2D2A	0	LGGM	GRCh37	1	156779136	156779136	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	23	16	.	.	ENST00000392306.2:c.891A>T	p.Ile297=	p.I297=	ENST00000392306	NM_001161441.1	297	atA/atT	0	1		UPI000013C54B	0		ENST00000368199		ENSG00000027869	10821		39			HGNC	p.I287I		SH2D2A		SNV							ENST00000368199	protein_coding			hmmpanther:PTHR14388,hmmpanther:PTHR14388:SF2		I		A		1015/1658								SH2D2A,synonymous_variant,p.=,ENST00000392306,NM_001161441.1;SH2D2A,synonymous_variant,p.=,ENST00000368199,NM_001161444.1,NM_001161443.1,NM_003975.3;SH2D2A,synonymous_variant,p.=,ENST00000368198,NM_001161442.1;SH2D2A,non_coding_transcript_exon_variant,,ENST00000468744,;SH2D2A,downstream_gene_variant,,ENST00000486350,;							LOW	861/1170		SH22A_HUMAN			Transcript			.	ENSP00000357182		CCDS1159.1			1	
ADAMTS12	0	LGGM	GRCh37	5	33637777	33637777	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	22	16	.	.	ENST00000504830.1:c.1793C>T	p.Ser598Leu	p.S598L	ENST00000504830	NM_030955.2	598	tCa/tTa	0	1	1	UPI000013DC51	0	NA	ENST00000504830		ENSG00000151388	14605		38	0.895		HGNC	p.S598L		ADAMTS12		SNV							ENST00000504830	protein_coding	getma.org/?cm=var&var=hg19,5,33637777,G,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150		S/L		A	low	2129/8774		getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=597&re=701&var=S598L	tolerated(0.09)				YES	ADAMTS12,missense_variant,p.Ser598Leu,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Ser598Leu,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;							MODERATE	1793/4785	S598L	ATS12_HUMAN			Transcript		benign(0.001)	.	ENSP00000422554		CCDS34140.1			1	
CASC5	0	LGGM	GRCh37	15	40914841	40914841	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	14	16	.	.	ENST00000346991.5:c.2457G>A	p.Gln819=	p.Q819=	ENST00000346991		819	caG/caA	0	1	1	UPI0000E59BD3	0		ENST00000346991		ENSG00000137812	24054		30			HGNC	p.Q793Q		CASC5		SNV			1				ENST00000399668	protein_coding			hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2		Q		A		2847/9573							YES	CASC5,synonymous_variant,p.=,ENST00000346991,;CASC5,synonymous_variant,p.=,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,3_prime_UTR_variant,,ENST00000527044,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;							LOW	2457/7029		CASC5_HUMAN			Transcript			.	ENSP00000335463		CCDS42023.1			1	
TTL	0	LGGM	GRCh37	2	113260756	113260756	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	21	16	.	.	ENST00000233336.6:c.873A>T	p.Ile291=	p.I291=	ENST00000233336	NM_153712.4	291	atA/atT	0	1	1	UPI000004FDE7	0		ENST00000233336		ENSG00000114999	21586		37			HGNC	p.I291I		TTL		SNV							ENST00000233336	protein_coding			Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,Superfamily_domains:SSF56059		I		T		1064/14269							YES	TTL,splice_region_variant,p.=,ENST00000233336,NM_153712.4;TTL,splice_region_variant,,ENST00000476615,;							LOW	873/1134		TTL_HUMAN			Transcript			.	ENSP00000233336		CCDS2096.1			1	
CENPE	0	LGGM	GRCh37	4	104080342	104080342	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	17	.	.	ENST00000265148.3:c.2426A>T	p.Gln809Leu	p.Q809L	ENST00000265148	NM_001813.2	809	cAg/cTg	0	1	1	UPI000020B28A	0	NA	ENST00000265148		ENSG00000138778	1856		42	2.005		HGNC	p.Q809L		CENPE		SNV			1				ENST00000265148	protein_coding	getma.org/?cm=var&var=hg19,4,104080342,T,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		Q/L		A	medium	2516/8612		getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=641&re=1119&var=Q809L		D6RBW0_HUMAN			YES	CENPE,missense_variant,p.Gln809Leu,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Gln784Leu,ENST00000380026,NM_001286734.1;CENPE,missense_variant,p.Gln809Leu,ENST00000503705,;							MODERATE	2426/8106	Q809L	CENPE_HUMAN			Transcript		benign(0.357)	.	ENSP00000265148		CCDS34042.1			1	
CNTN6	0	LGGM	GRCh37	3	1337424	1337424	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	24	17	.	.	ENST00000446702.2:c.594A>C	p.Ile198=	p.I198=	ENST00000446702		198	atA/atC	0	1		UPI0000072430	0		ENST00000350110		ENSG00000134115	2176		41			HGNC	p.I198I		CNTN6		SNV							ENST00000350110	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50835		I		C		1145/3814				F5H752_HUMAN				CNTN6,synonymous_variant,p.=,ENST00000446702,;CNTN6,synonymous_variant,p.=,ENST00000350110,NM_014461.2;CNTN6,synonymous_variant,p.=,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,;							LOW	594/3087		CNTN6_HUMAN			Transcript			.	ENSP00000341882		CCDS2557.1			1	
CHST15	0	LGGM	GRCh37	10	125805444	125805444	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	17	.	.	ENST00000346248.5:c.285T>A	p.Ser95=	p.S95=	ENST00000346248	NM_015892.4	95	tcT/tcA	0	1	1	UPI000004D06B	0		ENST00000346248		ENSG00000182022	18137		37			HGNC	p.S95S		CHST15		SNV							ENST00000421115	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR15723,hmmpanther:PTHR15723:SF0		S		T		928/4810							YES	CHST15,synonymous_variant,p.=,ENST00000346248,NM_015892.4;CHST15,synonymous_variant,p.=,ENST00000435907,NM_001270764.1;CHST15,synonymous_variant,p.=,ENST00000421115,NM_001270765.1,NM_014863.3;CHST15,downstream_gene_variant,,ENST00000462406,;							LOW	285/1686		CHSTF_HUMAN			Transcript			.	ENSP00000333947		CCDS7638.1			1	
NAA20	0	LGGM	GRCh37	20	20013256	20013256	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	14	17	.	.	ENST00000334982.4:c.410A>G	p.Tyr137Cys	p.Y137C	ENST00000334982	NM_016100.4	137	tAc/tGc	0	1	1	UPI0000029838	0	getma.org/pdb.php?prot=NAA20_HUMAN&from=2&to=157&var=Y137C	ENST00000334982		ENSG00000173418	15908		31	4.4		HGNC	p.Y137C		NAA20		SNV							ENST00000334982	protein_coding	getma.org/?cm=var&var=hg19,20,20013256,A,G&fts=all		Gene3D:3.40.630.30,PROSITE_profiles:PS51186,hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF71,Superfamily_domains:SSF55729		Y/C		G	high	691/1260		getma.org/?cm=msa&ty=f&p=NAA20_HUMAN&rb=2&re=157&var=Y137C	deleterious(0)				YES	NAA20,missense_variant,p.Tyr125Cys,ENST00000398602,NM_181527.3;NAA20,missense_variant,p.Tyr137Cys,ENST00000334982,NM_016100.4;NAA20,intron_variant,,ENST00000310450,NM_181528.3;CRNKL1,downstream_gene_variant,,ENST00000377340,NM_016652.5;CRNKL1,downstream_gene_variant,,ENST00000377327,NM_001278626.1,NM_001278625.1,NM_001278627.1;CRNKL1,downstream_gene_variant,,ENST00000536226,NM_001278628.1;NAA20,non_coding_transcript_exon_variant,,ENST00000484480,;NAA20,non_coding_transcript_exon_variant,,ENST00000463154,;NAA20,non_coding_transcript_exon_variant,,ENST00000480550,;CRNKL1,downstream_gene_variant,,ENST00000521379,;CRNKL1,downstream_gene_variant,,ENST00000490910,;CRNKL1,downstream_gene_variant,,ENST00000496549,;CRNKL1,downstream_gene_variant,,ENST00000490258,;							MODERATE	410/537	Y137C	NAA20_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000335636		CCDS13141.1			1	
KRTAP24-1	0	LGGM	GRCh37	21	31654966	31654966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	10	18	.	.	ENST00000340345.4:c.285C>T	p.Cys95=	p.C95=	ENST00000340345	NM_001085455.1	95	tgC/tgT	0	1	1	UPI00005C50F3	0		ENST00000340345		ENSG00000188694	33902		28			HGNC	p.C95C		KRTAP24-1		SNV							ENST00000340345	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23260:SF2,hmmpanther:PTHR23260,Pfam_domain:PF05287		C		A		311/1648							YES	KRTAP24-1,synonymous_variant,p.=,ENST00000340345,NM_001085455.1;							LOW	285/765		KR241_HUMAN			Transcript			.	ENSP00000339238		CCDS42915.1			1	
SYNE2	0	LGGM	GRCh37	14	64407350	64407350	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	18	.	.	ENST00000358025.3:c.98A>T	p.Gln33Leu	p.Q33L	ENST00000358025	NM_182914.2	33	cAg/cTg	0	1		UPI00001B0452	0	getma.org/pdb.php?prot=SYNE2_HUMAN&from=1&to=286&var=Q33L	ENST00000344113		ENSG00000054654	17084		43	3.64		HGNC	p.Q33L		SYNE2		SNV			1				ENST00000554584	protein_coding	getma.org/?cm=var&var=hg19,14,64407350,A,T&fts=all		Gene3D:1.10.418.10,PROSITE_patterns:PS00019,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00033,Superfamily_domains:SSF47576		Q/L		T	high	310/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=1&re=286&var=Q33L		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Gln33Leu,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Gln33Leu,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Gln33Leu,ENST00000554584,;SYNE2,missense_variant,p.Gln33Leu,ENST00000341472,;SYNE2,missense_variant,p.Gln33Leu,ENST00000356081,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;							MODERATE	98/20658	Q33L	SYNE2_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000341781		CCDS41963.1			1	
IQCF5	0	LGGM	GRCh37	3	51908056	51908056	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	26	18	.	.	ENST00000446461.1:c.140A>T	p.Gln47Leu	p.Q47L	ENST00000446461	NM_001145059.1	47	cAg/cTg	0	1	1	UPI00002377DA	0	NA	ENST00000446461		ENSG00000214681	35159		44	1.005		HGNC	p.Q47L		IQCF5		SNV							ENST00000446461	protein_coding	getma.org/?cm=var&var=hg19,3,51908056,T,A&fts=all		hmmpanther:PTHR21633		Q/L		A	low	193/512		getma.org/?cm=msa&ty=f&p=IQCF5_HUMAN&rb=33&re=67&var=Q47L	tolerated(0.45)				YES	IQCF5,missense_variant,p.Gln47Leu,ENST00000446461,NM_001145059.1;IQCF5-AS1,non_coding_transcript_exon_variant,,ENST00000440723,;RN7SL504P,downstream_gene_variant,,ENST00000494496,;							MODERATE	140/447	Q47L	IQCF5_HUMAN			Transcript		benign(0.218)	.	ENSP00000394653		CCDS46838.1			1	
FBXO40	0	LGGM	GRCh37	3	121340388	121340388	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	22	18	.	.	ENST00000338040.4:c.112T>A	p.Cys38Ser	p.C38S	ENST00000338040	NM_016298.3	38	Tgc/Agc	0	1	1	UPI000020A046	0	getma.org/pdb.php?prot=FBX40_HUMAN&from=1&to=200&var=C38S	ENST00000338040		ENSG00000163833	29816		40	2.775		HGNC	p.C38S		FBXO40		SNV							ENST00000338040	protein_coding	getma.org/?cm=var&var=hg19,3,121340388,T,A&fts=all		hmmpanther:PTHR15933,hmmpanther:PTHR15933:SF1,Superfamily_domains:SSF49599		C/S		A	medium	526/5926		getma.org/?cm=msa&ty=f&p=FBX40_HUMAN&rb=1&re=200&var=C38S	deleterious(0)				YES	FBXO40,missense_variant,p.Cys38Ser,ENST00000338040,NM_016298.3;							MODERATE	112/2130	C38S	FBX40_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337510		CCDS33835.1			1	
MAP3K15	0	LGGM	GRCh37	X	19379532	19379532	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	18	.	.	ENST00000338883.4:c.3782T>C	p.Ile1261Thr	p.I1261T	ENST00000338883	NM_001001671.3	1261	aTt/aCt	0	1	1	UPI0000E444D0	0	NA	ENST00000338883		ENSG00000180815	31689		43	2.34		HGNC	p.I1261T		MAP3K15		SNV							ENST00000338883	protein_coding	getma.org/?cm=var&var=hg19,X,19379532,A,G&fts=all		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,Superfamily_domains:SSF47769		I/T		G	medium	3782/4635		getma.org/?cm=msa&ty=f&p=M3K15_HUMAN&rb=944&re=1311&var=I1261T	deleterious(0)	E7EWI5_HUMAN			YES	MAP3K15,missense_variant,p.Ile1261Thr,ENST00000338883,NM_001001671.3;MAP3K15,missense_variant,p.Ile696Thr,ENST00000359173,;MAP3K15,missense_variant,p.Ile1093Thr,ENST00000469203,;PDHA1,3_prime_UTR_variant,,ENST00000379806,NM_001173454.1;PDHA1,3_prime_UTR_variant,,ENST00000545074,NM_000284.3,NM_001173455.1;PDHA1,3_prime_UTR_variant,,ENST00000422285,;PDHA1,3_prime_UTR_variant,,ENST00000540249,NM_001173456.1;PDHA1,downstream_gene_variant,,ENST00000379804,;MAP3K15,splice_region_variant,,ENST00000518578,;PDHA1,downstream_gene_variant,,ENST00000478795,;PDHA1,downstream_gene_variant,,ENST00000481733,;MAP3K15,splice_region_variant,,ENST00000470101,;							MODERATE	3782/3942	I1261T	M3K15_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000345629					1	
MICAL3	0	LGGM	GRCh37	22	18293497	18293497	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	20	19	.	.	ENST00000441493.2:c.5528A>T	p.Glu1843Val	p.E1843V	ENST00000441493	NM_015241.2	1843	gAg/gTg	0	1	1	UPI0001823FDE	0	NA	ENST00000441493		ENSG00000243156	24694		39	1.04		HGNC	p.E98V		MICAL3		SNV							ENST00000579997	protein_coding	getma.org/?cm=var&var=hg19,22,18293497,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218		E/V		A	low	5881/9445		getma.org/?cm=msa&ty=f&p=MICA3_HUMAN&rb=1650&re=1847&var=E1843V		C9J922_HUMAN,A8K0E1_HUMAN			YES	MICAL3,missense_variant,p.Glu1843Val,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Glu137Val,ENST00000577821,;MICAL3,missense_variant,p.Glu98Val,ENST00000579997,;MICAL3,missense_variant,p.Glu3Val,ENST00000584751,;MICAL3,non_coding_transcript_exon_variant,,ENST00000580469,;XXbac-B461K10.4,non_coding_transcript_exon_variant,,ENST00000476405,;							MODERATE	5528/6009	E1843V	MICA3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000416015		CCDS46659.1			1	
INPP5B	0	LGGM	GRCh37	1	38352578	38352578	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	33	21	.	.	ENST00000373024.3:c.1113A>T	p.Thr371=	p.T371=	ENST00000373024		371	acA/acT	0	1		UPI0000458AD6	0		ENST00000373023		ENSG00000204084	6077		54			HGNC	p.T451T		INPP5B		SNV							ENST00000373026	protein_coding			hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF30,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219		T		A		1447/4694								INPP5B,synonymous_variant,p.=,ENST00000373023,NM_005540.2;INPP5B,synonymous_variant,p.=,ENST00000373027,;INPP5B,synonymous_variant,p.=,ENST00000373026,;INPP5B,synonymous_variant,p.=,ENST00000373024,;INPP5B,synonymous_variant,p.=,ENST00000458109,;RNU6-584P,downstream_gene_variant,,ENST00000410350,;SNORA63,downstream_gene_variant,,ENST00000516639,;INPP5B,non_coding_transcript_exon_variant,,ENST00000467066,;							LOW	1353/2982		I5P2_HUMAN			Transcript			.	ENSP00000362114					1	
GLYATL2	0	LGGM	GRCh37	11	58602082	58602082	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	32	21	.	.	ENST00000287275.1:c.705A>T	p.Gln235His	p.Q235H	ENST00000287275	NM_145016.3	235	caA/caT	0	1	1	UPI000003FFB7	0	NA	ENST00000287275		ENSG00000156689	24178		53	1.645		HGNC	p.Q235H		GLYATL2		SNV							ENST00000287275	protein_coding	getma.org/?cm=var&var=hg19,11,58602082,T,A&fts=all		hmmpanther:PTHR15298:SF4,hmmpanther:PTHR15298,Pfam_domain:PF08444,Gene3D:3.40.630.30,Superfamily_domains:SSF55729		Q/H		A	low	1096/1636		getma.org/?cm=msa&ty=f&p=GLYL2_HUMAN&rb=202&re=290&var=Q235H	tolerated(0.11)				YES	GLYATL2,missense_variant,p.Gln235His,ENST00000287275,NM_145016.3;GLYATL2,missense_variant,p.Gln235His,ENST00000532258,;GLYATL2,downstream_gene_variant,,ENST00000533636,;							MODERATE	705/885	Q235H	GLYL2_HUMAN			Transcript		benign(0.037)	.	ENSP00000287275		CCDS41649.1			1	
TREML1	0	LGGM	GRCh37	6	41117420	41117420	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	17	21	.	.	ENST00000426005.2:c.858C>T	p.Phe286=	p.F286=	ENST00000426005	NM_178174.3	286	ttC/ttT	0	1	1	UPI0000074451	0		ENST00000426005		ENSG00000161911	20434		38			HGNC	p.F175F		TREML1		SNV							ENST00000437044	protein_coding			hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF35		F		A		902/981							YES	TREML1,synonymous_variant,p.=,ENST00000426005,NM_178174.3;TREML1,synonymous_variant,p.=,ENST00000437044,NM_001271808.1;TREML1,3_prime_UTR_variant,,ENST00000373127,NM_001271807.1;TREML1,downstream_gene_variant,,ENST00000590581,;							LOW	858/936		TRML1_HUMAN			Transcript			.	ENSP00000402855		CCDS4851.1			1	
OTOL1	0	LGGM	GRCh37	3	161221722	161221722	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	30	22	.	.	ENST00000327928.4:c.1426T>A	p.Ser476Thr	p.S476T	ENST00000327928	NM_001080440.1	476	Tca/Aca	0	1	1	UPI0000D61BA3	0	getma.org/pdb.php?prot=OTOL1_HUMAN&from=468&to=477&var=S476T	ENST00000327928		ENSG00000182447	34071		52	1.265		HGNC	p.S476T		OTOL1		SNV							ENST00000327928	protein_coding	getma.org/?cm=var&var=hg19,3,161221722,T,A&fts=all		hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF25		S/T		A	low	1426/1434		getma.org/?cm=msa&ty=f&p=OTOL1_HUMAN&rb=438&re=477&var=S476T	deleterious_low_confidence(0.02)				YES	OTOL1,missense_variant,p.Ser476Thr,ENST00000327928,NM_001080440.1;							MODERATE	1426/1434	S476T	OTOL1_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000330808		CCDS46948.1			1	
NBEAL1	0	LGGM	GRCh37	2	203977959	203977959	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	23	.	.	ENST00000449802.1:c.2337A>T	p.Thr779=	p.T779=	ENST00000449802	NM_001114132.1	779	acA/acT	0	1	1	UPI000194EC27	0		ENST00000449802		ENSG00000144426	20681		48			HGNC	p.T779T		NBEAL1		SNV							ENST00000449802	protein_coding			hmmpanther:PTHR13743:SF59,hmmpanther:PTHR13743,Gene3D:2.60.120.200		T		T		2670/10938							YES	NBEAL1,synonymous_variant,p.=,ENST00000449802,NM_001114132.1;							LOW	2337/8085		NBEL1_HUMAN			Transcript			.	ENSP00000399903		CCDS46495.1			1	
RAB2B	0	LGGM	GRCh37	14	21944735	21944735	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	41	23	.	.	ENST00000397762.1:c.70C>T	p.Leu24=	p.L24=	ENST00000397762	NM_032846.3	24	Ctg/Ttg	0	1	1	UPI000013316C	0		ENST00000397762		ENSG00000129472	20246		64			HGNC	p.L24L	rs764026181	RAB2B		SNV				0.000299			ENST00000417141	protein_coding			PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF359,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449		L		A		171/2928				Q9UL31_HUMAN,E9PE37_HUMAN,B4DUD4_HUMAN			YES	RAB2B,synonymous_variant,p.=,ENST00000397762,NM_032846.3,NM_001163380.1;TOX4,upstream_gene_variant,,ENST00000405508,;TOX4,upstream_gene_variant,,ENST00000262709,NM_014828.2;TOX4,upstream_gene_variant,,ENST00000448790,;TOX4,upstream_gene_variant,,ENST00000416256,;TOX4,upstream_gene_variant,,ENST00000457430,;RAB2B,non_coding_transcript_exon_variant,,ENST00000461909,;RAB2B,non_coding_transcript_exon_variant,,ENST00000475857,;RAB2B,non_coding_transcript_exon_variant,,ENST00000485996,;TOX4,upstream_gene_variant,,ENST00000494242,;RAB2B,synonymous_variant,p.=,ENST00000417141,;TOX4,upstream_gene_variant,,ENST00000476180,;TOX4,upstream_gene_variant,,ENST00000455393,;TOX4,upstream_gene_variant,,ENST00000447695,;TOX4,upstream_gene_variant,,ENST00000455138,;TOX4,upstream_gene_variant,,ENST00000487242,;							LOW	70/651		RAB2B_HUMAN			Transcript			.	ENSP00000380869	2.48E-05	CCDS9570.1			1	
FAM129C	0	LGGM	GRCh37	19	17652990	17652990	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	17	23	.	.	ENST00000335393.4:c.1309A>T	p.Thr437Ser	p.T437S	ENST00000335393	NM_173544.4	437	Aca/Tca	0	1	1	UPI0000246FFF	0	NA	ENST00000335393		ENSG00000167483	24130		40	1.04		HGNC	p.T437S		FAM129C		SNV							ENST00000352727	protein_coding	getma.org/?cm=var&var=hg19,19,17652990,A,T&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4		T/S		T	low	1447/2508		getma.org/?cm=msa&ty=f&p=NIBL2_HUMAN&rb=1&re=619&var=T437S	tolerated(0.11)	M0R0E0_HUMAN,B4DNU3_HUMAN			YES	FAM129C,missense_variant,p.Thr437Ser,ENST00000335393,NM_173544.4;FAM129C,missense_variant,p.Thr437Ser,ENST00000595684,;FAM129C,missense_variant,p.Thr437Ser,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Thr406Ser,ENST00000601861,;FAM129C,missense_variant,p.Thr437Ser,ENST00000352727,;FAM129C,missense_variant,p.Thr406Ser,ENST00000599164,;FAM129C,missense_variant,p.Thr163Ser,ENST00000449408,;FAM129C,missense_variant,p.Thr437Ser,ENST00000300971,;FAM129C,missense_variant,p.Thr406Ser,ENST00000599124,;FAM129C,missense_variant,p.Thr383Ser,ENST00000600871,;FAM129C,downstream_gene_variant,,ENST00000597887,;FAM129C,missense_variant,p.Thr406Ser,ENST00000600519,;FAM129C,non_coding_transcript_exon_variant,,ENST00000595601,;FAM129C,downstream_gene_variant,,ENST00000599819,;							MODERATE	1309/2094	T437S	NIBL2_HUMAN			Transcript		benign(0.167)	.	ENSP00000335040		CCDS12362.1			1	
DKK2	0	LGGM	GRCh37	4	107845267	107845267	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	37	23	.	.	ENST00000285311.3:c.624C>G	p.Leu208=	p.L208=	ENST00000285311	NM_014421.2	208	ctC/ctG	0	1	1	UPI0000048EF2	0		ENST00000285311		ENSG00000155011	2892		60			HGNC	p.L208L		DKK2		SNV							ENST00000285311	protein_coding			Gene3D:2.10.80.10		L		C		1330/3638				D6RGF1_HUMAN			YES	DKK2,synonymous_variant,p.=,ENST00000285311,NM_014421.2;DKK2,synonymous_variant,p.=,ENST00000513208,;DKK2,synonymous_variant,p.=,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;							LOW	624/780		DKK2_HUMAN			Transcript			.	ENSP00000285311		CCDS3675.1			1	
OLA1	0	LGGM	GRCh37	2	174946779	174946779	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	37	24	.	.	ENST00000284719.3:c.742A>T	p.Lys248Ter	p.K248*	ENST00000284719	NM_013341.3	248	Aaa/Taa	0	1	1	UPI00001328C1	0	NA	ENST00000284719		ENSG00000138430	28833		61	0		HGNC	p.K268X		OLA1		SNV							ENST00000409546	protein_coding	getma.org/?cm=var&var=hg19,2,174946779,T,A&fts=all		PROSITE_profiles:PS51710,HAMAP:MF_00944,hmmpanther:PTHR23305,TIGRFAM_domain:TIGR00092,Gene3D:3.40.50.300,PIRSF_domain:PIRSF006641,Superfamily_domains:SSF52540		K/*		A	NA	989/4417		NA		Q53SW9_HUMAN,Q53SQ6_HUMAN,C9JTK6_HUMAN,C9JCJ9_HUMAN			YES	OLA1,stop_gained,p.Lys248Ter,ENST00000284719,NM_013341.3;OLA1,stop_gained,p.Lys268Ter,ENST00000409546,;OLA1,stop_gained,p.Lys90Ter,ENST00000344357,NM_001011708.1;OLA1,stop_gained,p.Lys90Ter,ENST00000429575,;OLA1,intron_variant,,ENST00000428402,;OLA1,non_coding_transcript_exon_variant,,ENST00000392560,;OLA1,non_coding_transcript_exon_variant,,ENST00000462000,;OLA1,upstream_gene_variant,,ENST00000497760,;							HIGH	742/1191	K248*	OLA1_HUMAN			Transcript			.	ENSP00000284719		CCDS2255.1			1	
CPNE4	0	LGGM	GRCh37	3	131624153	131624153	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	48	24	.	.	ENST00000512055.1:c.135C>G	p.Asp45Glu	p.D45E	ENST00000512055		45	gaC/gaG	0	1		UPI0000127C14	0	NA	ENST00000429747		ENSG00000196353	2317		72	3.64		HGNC	p.D45E		CPNE4		SNV							ENST00000429747	protein_coding	getma.org/?cm=var&var=hg19,3,131624153,G,C&fts=all		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		D/E		C	high	570/2564		getma.org/?cm=msa&ty=f&p=CPNE4_HUMAN&rb=29&re=115&var=D45E	deleterious(0.01)	Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN				CPNE4,missense_variant,p.Asp45Glu,ENST00000512055,;CPNE4,missense_variant,p.Asp45Glu,ENST00000429747,NM_130808.1;CPNE4,missense_variant,p.Asp45Glu,ENST00000511604,;CPNE4,missense_variant,p.Asp63Glu,ENST00000512332,;CPNE4,missense_variant,p.Asp63Glu,ENST00000502818,;CPNE4,missense_variant,p.Asp45Glu,ENST00000505957,;CPNE4,missense_variant,p.Asp45Glu,ENST00000505881,;CPNE4,missense_variant,p.Asp45Glu,ENST00000514999,;							MODERATE	135/1674	D45E	CPNE4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000411904		CCDS3072.1			1	
PALM2-AKAP2	0	LGGM	GRCh37	9	112899698	112899698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	23	24	.	.	ENST00000374530.3:c.1874C>A	p.Pro625His	p.P625H	ENST00000374530	NM_007203.4	625	cCc/cAc	0	1	1	UPI0000125755	0	NA	ENST00000374530		ENSG00000157654	33529		47	0.345		HGNC	p.P394H		PALM2-AKAP2		SNV							ENST00000259318	protein_coding	getma.org/?cm=var&var=hg19,9,112899698,C,A&fts=all		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10		P/H		A	neutral	2054/7507		getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=201&re=400&var=P394H	tolerated(0.13)				YES	PALM2-AKAP2,missense_variant,p.Pro625His,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Pro483His,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Pro625His,ENST00000302798,;AKAP2,missense_variant,p.Pro483His,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Pro625His,ENST00000555236,;AKAP2,missense_variant,p.Pro625His,ENST00000510514,;AKAP2,missense_variant,p.Pro394His,ENST00000259318,NM_001136562.2;AKAP2,missense_variant,p.Pro443His,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,upstream_gene_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;							MODERATE	1874/3312	P394H				Transcript		benign(0.018)	.	ENSP00000363654		CCDS35100.1			1	
IKZF2	0	LGGM	GRCh37	2	213878638	213878638	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	25	.	.	ENST00000457361.1:c.733A>T	p.Lys245Ter	p.K245*	ENST00000457361	NM_016260.2	245	Aag/Tag	0	1		UPI000013D4DA	0	NA	ENST00000434687		ENSG00000030419	13177		54	0		HGNC	p.K251X		IKZF2		SNV							ENST00000342002	protein_coding	getma.org/?cm=var&var=hg19,2,213878638,T,A&fts=all		hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404		K/*		A	NA	1043/3888		NA		Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN				IKZF2,stop_gained,p.Lys245Ter,ENST00000457361,NM_016260.2;IKZF2,stop_gained,p.Lys245Ter,ENST00000434687,;IKZF2,stop_gained,p.Lys251Ter,ENST00000342002,;IKZF2,stop_gained,p.Lys219Ter,ENST00000374319,NM_001079526.1;IKZF2,stop_gained,p.Lys173Ter,ENST00000451136,;IKZF2,stop_gained,p.Lys100Ter,ENST00000374327,;IKZF2,3_prime_UTR_variant,,ENST00000413091,;IKZF2,intron_variant,,ENST00000421754,;AC079610.1,intron_variant,,ENST00000415387,;IKZF2,3_prime_UTR_variant,,ENST00000431520,;IKZF2,3_prime_UTR_variant,,ENST00000439848,;IKZF2,3_prime_UTR_variant,,ENST00000412444,;IKZF2,3_prime_UTR_variant,,ENST00000453575,;IKZF2,3_prime_UTR_variant,,ENST00000374326,;IKZF2,non_coding_transcript_exon_variant,,ENST00000484040,;							HIGH	733/1581	K245*	IKZF2_HUMAN			Transcript			.	ENSP00000412869		CCDS2395.1			1	
SPATA31A6	0	LGGM	GRCh37	9	43626629	43626629	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	3	25	.	.	ENST00000332857.6:c.2058A>T	p.Pro686=	p.P686=	ENST00000332857	NM_001145196.1	686	ccA/ccT	0	1	1	UPI0000197F6E	0		ENST00000332857		ENSG00000185775	32006		28			HGNC	p.P686P		SPATA31A6		SNV							ENST00000332857	protein_coding			hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF14650		P		A		2087/4209							YES	SPATA31A6,synonymous_variant,p.=,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;							LOW	2058/4032		S31A6_HUMAN			Transcript			.	ENSP00000329825		CCDS47973.1			1	
Unknown	0	LGGM	GRCh37	1	14506931	14506931	+		IGR	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	39	26	.	.								0	1	1		0							65				p.A41A				SNV							ENST00000412667								A																	MODIFIER									.						1	
SLC5A1	0	LGGM	GRCh37	22	32506021	32506021	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	27	.	.	ENST00000266088.4:c.1816T>A	p.Tyr606Asn	p.Y606N	ENST00000266088	NM_000343.3	606	Tat/Aat	0	1	1	UPI00001359EA	0	NA	ENST00000266088		ENSG00000100170	11036		56	2.605		HGNC	p.Y606N		SLC5A1		SNV			1				ENST00000266088	protein_coding	getma.org/?cm=var&var=hg19,22,32506021,T,A&fts=all		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99		Y/N		A	medium	2066/5061		getma.org/?cm=msa&ty=f&p=SC5A1_HUMAN&rb=493&re=664&var=Y606N	tolerated(0.09)	A4QPH0_HUMAN			YES	SLC5A1,missense_variant,p.Tyr606Asn,ENST00000266088,NM_000343.3;SLC5A1,missense_variant,p.Tyr479Asn,ENST00000543737,NM_001256314.1;							MODERATE	1816/1995	Y606N	SC5A1_HUMAN			Transcript		benign(0.187)	.	ENSP00000266088		CCDS13902.1			1	
GRM3	0	LGGM	GRCh37	7	86468842	86468842	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	43	27	.	.	ENST00000361669.2:c.2012A>T	p.Asp671Val	p.D671V	ENST00000361669	NM_000840.2	671	gAt/gTt	0	1	1	UPI0000153EFC	0	NA	ENST00000361669		ENSG00000198822	4595		70	1.32		HGNC	p.D263V		GRM3		SNV							ENST00000546348	protein_coding	getma.org/?cm=var&var=hg19,7,86468842,A,T&fts=all		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060		D/V		T	low	3111/4268		getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=586&re=826&var=D671V	deleterious(0.03)	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN			YES	GRM3,missense_variant,p.Asp671Val,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Asp543Val,ENST00000536043,;GRM3,missense_variant,p.Asp263Val,ENST00000546348,;GRM3,intron_variant,,ENST00000394720,;GRM3,intron_variant,,ENST00000439827,;							MODERATE	2012/2640	D671V	GRM3_HUMAN			Transcript		benign(0.191)	.	ENSP00000355316		CCDS5600.1			1	
ZNF43	0	LGGM	GRCh37	19	21991739	21991739	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	43	28	.	.	ENST00000354959.4:c.1100A>T	p.Glu367Val	p.E367V	ENST00000354959	NM_003423.3	367	gAg/gTg	0	1	1	UPI00001BD957	0	getma.org/pdb.php?prot=ZNF43_HUMAN&from=356&to=381&var=E367V	ENST00000354959		ENSG00000198521	13109		71	1.345		HGNC	p.E361V		ZNF43		SNV							ENST00000598381	protein_coding	getma.org/?cm=var&var=hg19,19,21991739,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		E/V		A	low	1270/2881		getma.org/?cm=msa&ty=f&p=ZNF43_HUMAN&rb=336&re=401&var=E367V	deleterious(0.02)	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN			YES	ZNF43,missense_variant,p.Glu361Val,ENST00000594012,NM_001256649.1,NM_001256654.1,NM_001256653.1,NM_001256651.1;ZNF43,missense_variant,p.Glu361Val,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Glu361Val,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Glu367Val,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;							MODERATE	1100/2430	E367V	ZNF43_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000347045		CCDS12413.2			1	
SETX	0	LGGM	GRCh37	9	135202512	135202512	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	28	.	.	ENST00000224140.5:c.4473A>T	p.Ala1491=	p.A1491=	ENST00000224140	NM_015046.5	1491	gcA/gcT	0	1	1	UPI0000210D28	0		ENST00000224140		ENSG00000107290	445		57			HGNC	p.A1491A		SETX		SNV			1				ENST00000393220	protein_coding			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336		A		A		4656/11100							YES	SETX,synonymous_variant,p.=,ENST00000372169,;SETX,synonymous_variant,p.=,ENST00000224140,NM_015046.5;SETX,synonymous_variant,p.=,ENST00000393220,;							LOW	4473/8034		SETX_HUMAN			Transcript			.	ENSP00000224140		CCDS6947.1			1	
WDR65	0	LGGM	GRCh37	1	43650947	43650947	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	50	28	.	.	ENST00000528956.1:c.889T>A	p.Cys297Ser	p.C297S	ENST00000528956	NM_152498.3	297	Tgt/Agt	0	1		UPI0001D89705	0	NA	ENST00000372492		ENSG00000243710	26485		78	2.545		HGNC	p.C297S		WDR65		SNV			1				ENST00000528956	protein_coding	getma.org/?cm=var&var=hg19,1,43650947,T,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215		C/S		A	medium	1213/4244		getma.org/?cm=msa&ty=f&p=WDR65_HUMAN&rb=201&re=383&var=C297S	deleterious(0.02)	E9PRV3_HUMAN				WDR65,missense_variant,p.Cys297Ser,ENST00000372492,NM_001195831.2;WDR65,missense_variant,p.Cys297Ser,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,;							MODERATE	889/3753	C297S	WDR65_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000361570					1	
GALNT13	0	LGGM	GRCh37	2	154801149	154801149	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	29	.	.	ENST00000392825.3:c.139A>T	p.Arg47Trp	p.R47W	ENST00000392825	NM_052917.2	47	Agg/Tgg	0	1	1	UPI0000051E22	0	getma.org/pdb.php?prot=GLT13_HUMAN&from=1&to=117&var=R47W	ENST00000392825		ENSG00000144278	23242		58	1.355		HGNC	p.R47W		GALNT13		SNV							ENST00000409237	protein_coding	getma.org/?cm=var&var=hg19,2,154801149,A,T&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF21		R/W		T	low	706/5536		getma.org/?cm=msa&ty=f&p=GLT13_HUMAN&rb=1&re=117&var=R47W	deleterious(0.02)	Q68VI8_HUMAN			YES	GALNT13,missense_variant,p.Arg47Trp,ENST00000392825,NM_052917.2;GALNT13,missense_variant,p.Arg47Trp,ENST00000409237,;GALNT13,downstream_gene_variant,,ENST00000434213,;							MODERATE	139/1671	R47W	GLT13_HUMAN			Transcript		benign(0.325)	.	ENSP00000376570		CCDS2199.1			1	
DNAH7	0	LGGM	GRCh37	2	196837144	196837144	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	36	29	.	.	ENST00000312428.6:c.1880A>T	p.Gln627Leu	p.Q627L	ENST00000312428	NM_018897.2	627	cAg/cTg	0	1	1	UPI0000141B95	0	NA	ENST00000312428		ENSG00000118997	18661		65	1.435		HGNC	p.Q627L		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196837144,T,A&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676		Q/L		A	low	1981/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=601&re=686&var=Q627L	tolerated(0.4)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Gln627Leu,ENST00000312428,NM_018897.2;							MODERATE	1880/12075	Q627L	DYH7_HUMAN			Transcript		benign(0.001)	.	ENSP00000311273		CCDS42794.1			1	
NUB1	0	LGGM	GRCh37	7	151065895	151065895	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	39	30	.	.	ENST00000568733.1:c.1242C>G	p.Ala414=	p.A414=	ENST00000568733		414	gcC/gcG	0	1	1	UPI00021CF908	0		ENST00000568733		ENSG00000013374	17623		69			HGNC	p.A390A		NUB1		SNV							ENST00000355851	protein_coding			PROSITE_profiles:PS50030,hmmpanther:PTHR12948,Gene3D:1.10.8.10,Pfam_domain:PF00627,SMART_domains:SM00165,Superfamily_domains:SSF46934		A		G		1308/3210				H3BM74_HUMAN,C9JRT6_HUMAN,C9J7X7_HUMAN			YES	NUB1,synonymous_variant,p.=,ENST00000568733,;NUB1,synonymous_variant,p.=,ENST00000413040,;NUB1,synonymous_variant,p.=,ENST00000355851,NM_001243351.1;NUB1,synonymous_variant,p.=,ENST00000566856,NM_016118.4;NUB1,synonymous_variant,p.=,ENST00000460712,;NUB1,upstream_gene_variant,,ENST00000480714,;NUB1,non_coding_transcript_exon_variant,,ENST00000497987,;NUB1,downstream_gene_variant,,ENST00000480907,;							LOW	1242/1920					Transcript			.	ENSP00000454264		CCDS59089.1			1	
SPAG1	0	LGGM	GRCh37	8	101178134	101178134	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	29	30	.	.	ENST00000388798.2:c.233A>G	p.Asp78Gly	p.D78G	ENST00000388798	NM_003114.4	78	gAt/gGt	0	1		UPI000016783D	0	NA	ENST00000251809		ENSG00000104450	11212		59	2.125		HGNC	p.D78G		SPAG1		SNV			1				ENST00000388798	protein_coding	getma.org/?cm=var&var=hg19,8,101178134,A,G&fts=all		hmmpanther:PTHR22904:SF310,hmmpanther:PTHR22904		D/G		G	medium	319/3747		getma.org/?cm=msa&ty=f&p=SPAG1_HUMAN&rb=1&re=200&var=D78G	deleterious(0)					SPAG1,missense_variant,p.Asp78Gly,ENST00000388798,NM_003114.4;SPAG1,missense_variant,p.Asp78Gly,ENST00000251809,NM_172218.2;SPAG1,missense_variant,p.Asp78Gly,ENST00000520508,;SPAG1,missense_variant,p.Asp78Gly,ENST00000520643,;RP11-316J7.4,upstream_gene_variant,,ENST00000517879,;							MODERATE	233/2781	D78G	SPAG1_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000251809		CCDS34930.1			1	
TTN	0	LGGM	GRCh37	2	179411527	179411527	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	35	30	.	.	ENST00000589042.1:c.94628T>A	p.Ile31543Lys	p.I31543K	ENST00000589042	NM_001267550.1	31543	aTa/aAa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=29867&to=29956&var=I29902K	ENST00000591111		ENSG00000155657	12403		65	3.9		HGNC	p.I28975K		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179411527,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/K		T	high	89930/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=29867&re=29956&var=I29902K		C9JQJ2_HUMAN				TTN,missense_variant,p.Ile31543Lys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ile29902Lys,ENST00000591111,;TTN,missense_variant,p.Ile28975Lys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ile22670Lys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ile22603Lys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ile22478Lys,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,;							MODERATE	89705/103053	I29902K	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
LAMA2	0	LGGM	GRCh37	6	129636987	129636987	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	46	30	.	.	ENST00000421865.2:c.3816T>A	p.Pro1272=	p.P1272=	ENST00000421865	NM_001079823.1	1272	ccT/ccA	0	1	1	UPI00003673E0	0		ENST00000421865		ENSG00000196569	6482		76			HGNC	p.P1272P		LAMA2		SNV			1				ENST00000421865	protein_coding			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00281		P		A		3865/9640				Q59H37_HUMAN			YES	LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;							LOW	3816/9369		LAMA2_HUMAN			Transcript			.	ENSP00000400365		CCDS5138.1			1	
SACS	0	LGGM	GRCh37	13	23909018	23909018	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	33	31	.	.	ENST00000382298.3:c.8997A>G	p.Pro2999=	p.P2999=	ENST00000382298	NM_014363.5	2999	ccA/ccG	0	1		UPI000047039D	0		ENST00000382292		ENSG00000151835	10519		64			HGNC	p.P2249P		SACS		SNV			1				ENST00000402364	protein_coding			hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		P		C		9271/15324								SACS,synonymous_variant,p.=,ENST00000382298,NM_014363.5;SACS,synonymous_variant,p.=,ENST00000382292,;SACS,synonymous_variant,p.=,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							LOW	8997/13740		SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
COL14A1	0	LGGM	GRCh37	8	121259964	121259964	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	27	32	.	.	ENST00000297848.3:c.2592A>T	p.Lys864Asn	p.K864N	ENST00000297848	NM_021110.2	864	aaA/aaT	0	1	1	UPI000046D377	0	getma.org/pdb.php?prot=COEA1_HUMAN&from=830&to=910&var=K864N	ENST00000297848		ENSG00000187955	2191		59	1.735		HGNC	p.K769N		COL14A1		SNV			1				ENST00000247781	protein_coding	getma.org/?cm=var&var=hg19,8,121259964,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		K/N		T	low	2862/6466		getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=830&re=910&var=K864N	tolerated(0.07)				YES	COL14A1,missense_variant,p.Lys864Asn,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Lys769Asn,ENST00000247781,;COL14A1,missense_variant,p.Lys864Asn,ENST00000309791,;COL14A1,missense_variant,p.Lys677Asn,ENST00000434620,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;							MODERATE	2592/5391	K864N	COEA1_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000297848		CCDS34938.1			1	
MAP2	0	LGGM	GRCh37	2	210560182	210560182	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	33	32	.	.	ENST00000360351.4:c.3288T>A	p.Ser1096=	p.S1096=	ENST00000360351	NM_002374.3	1096	tcT/tcA	0	1	1	UPI000013D119	0		ENST00000360351		ENSG00000078018	6839		65			HGNC	p.S1096S		MAP2		SNV							ENST00000360351	protein_coding			hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377		S		A		3794/9711				A8MZ31_HUMAN			YES	MAP2,synonymous_variant,p.=,ENST00000360351,NM_002374.3;MAP2,synonymous_variant,p.=,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;							LOW	3288/5484		MTAP2_HUMAN			Transcript			.	ENSP00000353508		CCDS2384.1			1	
SLC25A24	0	LGGM	GRCh37	1	108686238	108686238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	46	32	.	.	ENST00000565488.1:c.1025C>A	p.Ala342Asp	p.A342D	ENST00000565488	NM_013386.4	342	gCt/gAt	0	1	1	UPI0000206111	0	getma.org/pdb.php?prot=SCMC1_HUMAN&from=284&to=376&var=A342D	ENST00000565488		ENSG00000085491	20662		78	3.8		HGNC	p.A342D		SLC25A24		SNV							ENST00000565488	protein_coding	getma.org/?cm=var&var=hg19,1,108686238,G,T&fts=all		Superfamily_domains:0048588,Pfam_domain:PF00153,Gene3D:1okcA00,hmmpanther:PTHR24089:SF262,hmmpanther:PTHR24089,PROSITE_profiles:PS50920		A/D		T	high	1245/4271		getma.org/?cm=msa&ty=f&p=SCMC1_HUMAN&rb=284&re=376&var=A342D	deleterious(0)				YES	SLC25A24,missense_variant,p.Ala342Asp,ENST00000565488,NM_013386.4;SLC25A24,missense_variant,p.Ala323Asp,ENST00000370041,NM_213651.2;SLC25A24,3_prime_UTR_variant,,ENST00000264128,;							MODERATE	1025/1434	A342D	SCMC1_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000457733		CCDS41361.1			1	
RTCB	0	LGGM	GRCh37	22	32788316	32788316	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	31	32	.	.	ENST00000216038.5:c.1321C>T	p.Arg441Cys	p.R441C	ENST00000216038	NM_014306.4	441	Cgt/Tgt	0	1	1	UPI000006E0DE	0	getma.org/pdb.php?prot=RTCB_HUMAN&from=38&to=505&var=R441C	ENST00000216038		ENSG00000100220	26935		63	3.08		HGNC	p.R441C		RTCB		SNV							ENST00000216038	protein_coding	getma.org/?cm=var&var=hg19,22,32788316,G,A&fts=all		Superfamily_domains:0044267,HAMAP:MF_03144,Pfam_domain:PF01139,hmmpanther:PTHR11118		R/C		A	medium	1420/2027		getma.org/?cm=msa&ty=f&p=RTCB_HUMAN&rb=38&re=505&var=R441C	deleterious(0.01)				YES	RTCB,missense_variant,p.Arg441Cys,ENST00000216038,NM_014306.4;RTCB,synonymous_variant,p.=,ENST00000451746,;							MODERATE	1321/1518	R441C	RTCB_HUMAN			Transcript		benign(0.082)	.	ENSP00000216038		CCDS13905.1			1	
PCDHA9	0	LGGM	GRCh37	5	140229442	140229442	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	37	33	.	.	ENST00000532602.1:c.1362G>T	p.Ala454=	p.A454=	ENST00000532602	NM_031857.1	454	gcG/gcT	0	1	1	UPI00001273D1	0		ENST00000532602		ENSG00000204961	8675		70			HGNC	p.A454A	rs781928576	PCDHA9		SNV							ENST00000378122	protein_coding			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,Superfamily_domains:SSF49313		A		T		2395/6293	1.52E-05						YES	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;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,;PCDHA6,intron_variant,,ENST00000527624,;							LOW	1362/2853		PCDA9_HUMAN			Transcript			.	ENSP00000436042	8.28E-06	CCDS54920.1			1	
ZNF106	0	LGGM	GRCh37	15	42743345	42743345	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	25	33	.	.	ENST00000263805.4:c.1056C>A	p.Tyr352Ter	p.Y352*	ENST00000263805	NM_022473.1	352	taC/taA	0	1	1	UPI000006D6CC	0	NA	ENST00000263805		ENSG00000103994	12886		58	0		HGNC	p.Y375X		ZNF106		SNV							ENST00000564754	protein_coding	getma.org/?cm=var&var=hg19,15,42743345,G,T&fts=all		hmmpanther:PTHR14435		Y/*		T	NA	1383/10460		NA		H3BNX5_HUMAN			YES	ZNF106,stop_gained,p.Tyr352Ter,ENST00000263805,NM_022473.1;ZNF106,stop_gained,p.Tyr135Ter,ENST00000565948,;ZNF106,stop_gained,p.Tyr375Ter,ENST00000564754,;ZNF106,intron_variant,,ENST00000565380,NM_001284307.1;ZNF106,intron_variant,,ENST00000565611,NM_001284306.1;ZNF106,upstream_gene_variant,,ENST00000565500,;ZNF106,upstream_gene_variant,,ENST00000567772,;ZNF106,downstream_gene_variant,,ENST00000567041,;							HIGH	1056/5652	Y352*	ZN106_HUMAN			Transcript			.	ENSP00000263805		CCDS32208.1			1	
SF3A3	0	LGGM	GRCh37	1	38447473	38447473	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	35	35	.	.	ENST00000373019.4:c.479A>T	p.Tyr160Phe	p.Y160F	ENST00000373019	NM_006802.2	160	tAt/tTt	0	1	1	UPI0000135469	0	NA	ENST00000373019		ENSG00000183431	10767		70	2.72		HGNC	p.Y160F		SF3A3		SNV							ENST00000373019	protein_coding	getma.org/?cm=var&var=hg19,1,38447473,T,A&fts=all		hmmpanther:PTHR12786,hmmpanther:PTHR12786:SF2		Y/F		A	medium	1435/3673		getma.org/?cm=msa&ty=f&p=SF3A3_HUMAN&rb=101&re=243&var=Y160F	deleterious(0.02)				YES	SF3A3,missense_variant,p.Tyr160Phe,ENST00000373019,NM_006802.2;SF3A3,missense_variant,p.Tyr107Phe,ENST00000448721,;SF3A3,non_coding_transcript_exon_variant,,ENST00000489537,;SF3A3,non_coding_transcript_exon_variant,,ENST00000461869,;SF3A3,non_coding_transcript_exon_variant,,ENST00000470585,;SF3A3,upstream_gene_variant,,ENST00000460925,;SF3A3,downstream_gene_variant,,ENST00000462258,;SF3A3,upstream_gene_variant,,ENST00000488934,;							MODERATE	479/1506	Y160F	SF3A3_HUMAN			Transcript		benign(0.076)	.	ENSP00000362110		CCDS428.1			1	
VPS54	0	LGGM	GRCh37	2	64208883	64208883	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	54	35	.	.	ENST00000272322.4:c.275A>T	p.Lys92Ile	p.K92I	ENST00000272322		92	aAa/aTa	0	1	1	UPI0000053408	0	NA	ENST00000272322		ENSG00000143952	18652		89	2.16		HGNC	p.K80I		VPS54		SNV							ENST00000483277	protein_coding	getma.org/?cm=var&var=hg19,2,64208883,T,A&fts=all		hmmpanther:PTHR12965:SF0,hmmpanther:PTHR12965		K/I		A	medium	430/3463		getma.org/?cm=msa&ty=f&p=VPS54_HUMAN&rb=1&re=197&var=K92I	deleterious(0)				YES	VPS54,missense_variant,p.Lys80Ile,ENST00000409558,NM_016516.2,NM_001005739.1;VPS54,missense_variant,p.Lys92Ile,ENST00000272322,;							MODERATE	275/2934	K92I	VPS54_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000272322		CCDS33208.1			1	
PPP1R21	0	LGGM	GRCh37	2	48722905	48722905	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	55	36	.	.	ENST00000294952.8:c.1687C>T	p.Gln563Ter	p.Q563*	ENST00000294952	NM_001135629.2	563	Cag/Tag	0	1	1	UPI000015C523	0	NA	ENST00000294952		ENSG00000162869	30595		91	0		HGNC	p.Q563X		PPP1R21		SNV							ENST00000294952	protein_coding	getma.org/?cm=var&var=hg19,2,48722905,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21448,Pfam_domain:PF10212		Q/*		T	NA	1844/3142		NA		F8W7E1_HUMAN			YES	PPP1R21,stop_gained,p.Gln563Ter,ENST00000294952,NM_001135629.2;PPP1R21,stop_gained,p.Gln563Ter,ENST00000281394,NM_001193475.1,NM_152994.4;PPP1R21,intron_variant,,ENST00000449090,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;PPP1R21,3_prime_UTR_variant,,ENST00000455978,;							HIGH	1687/2343	Q563*	PPR21_HUMAN			Transcript			.	ENSP00000294952		CCDS46278.1			1	
TRPM6	0	LGGM	GRCh37	9	77390837	77390837	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	44	36	.	.	ENST00000360774.1:c.3365G>A	p.Arg1122Gln	p.R1122Q	ENST00000360774	NM_017662.4	1122	cGa/cAa	0	1	1	UPI000006E041	0	NA	ENST00000360774		ENSG00000119121	17995		80	0.16		HGNC	p.R1117Q		TRPM6		SNV			1				ENST00000449912	protein_coding	getma.org/?cm=var&var=hg19,9,77390837,C,T&fts=all		hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800		R/Q		T	neutral	3603/8425		getma.org/?cm=msa&ty=f&p=TRPM6_HUMAN&rb=1070&re=1269&var=R1122Q	tolerated(0.37)				YES	TRPM6,missense_variant,p.Arg1122Gln,ENST00000451710,;TRPM6,missense_variant,p.Arg1122Gln,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Arg1117Gln,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Arg1117Gln,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Arg1122Gln,ENST00000376864,;TRPM6,intron_variant,,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;							MODERATE	3365/6069	R1122Q	TRPM6_HUMAN			Transcript		benign(0.006)	.	ENSP00000354006		CCDS6647.1			1	
MTA3	0	LGGM	GRCh37	2	42886976	42886976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	38	36	.	.	ENST00000407270.3:c.676G>T	p.Ala226Ser	p.A226S	ENST00000407270	NM_020744.2	226	Gct/Tct	0	1		UPI000012F745	0	NA	ENST00000405094		ENSG00000057935	23784		74	2.525		HGNC	p.A226S		MTA3		SNV							ENST00000409019	protein_coding	getma.org/?cm=var&var=hg19,2,42886976,G,T&fts=all		PROSITE_profiles:PS51156,hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF6		A/S		T	medium	676/1785		getma.org/?cm=msa&ty=f&p=MTA3_HUMAN&rb=148&re=259&var=A226S	deleterious(0.03)	Q53SC0_HUMAN,Q53RX8_HUMAN				MTA3,missense_variant,p.Ala170Ser,ENST00000405592,NM_001282755.1;MTA3,missense_variant,p.Ala170Ser,ENST00000406652,NM_001282756.1;MTA3,missense_variant,p.Ala226Ser,ENST00000407270,NM_020744.2;MTA3,missense_variant,p.Ala226Ser,ENST00000406911,;MTA3,missense_variant,p.Ala226Ser,ENST00000405094,;MTA3,downstream_gene_variant,,ENST00000484780,;MTA3,downstream_gene_variant,,ENST00000461256,;MTA3,downstream_gene_variant,,ENST00000493983,;MTA3,missense_variant,p.Ala226Ser,ENST00000409019,;MTA3,missense_variant,p.Ala226Ser,ENST00000454356,;MTA3,non_coding_transcript_exon_variant,,ENST00000490611,;MTA3,downstream_gene_variant,,ENST00000430763,;							MODERATE	676/1785	A226S	MTA3_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000385823					1	
FAM47C	0	LGGM	GRCh37	X	37028239	37028239	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	53	36	.	.	ENST00000358047.3:c.1756C>T	p.Pro586Ser	p.P586S	ENST00000358047	NM_001013736.2	586	Cct/Tct	0	1	1	UPI000041ABF8	0	NA	ENST00000358047		ENSG00000198173	25301		89	2.485		HGNC	p.P586S		FAM47C		SNV							ENST00000358047	protein_coding	getma.org/?cm=var&var=hg19,X,37028239,C,T&fts=all		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF203		P/S		T	medium	1808/3308		getma.org/?cm=msa&ty=f&p=FA47C_HUMAN&rb=580&re=779&var=P586S	tolerated(0.08)				YES	FAM47C,missense_variant,p.Pro586Ser,ENST00000358047,NM_001013736.2;							MODERATE	1756/3108	P586S	FA47C_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000367913		CCDS35227.1			1	
MMS22L	0	LGGM	GRCh37	6	97729186	97729186	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	41	36	.	.	ENST00000275053.4:c.217G>T	p.Glu73Ter	p.E73*	ENST00000275053	NM_198468.2	73	Gaa/Taa	0	1	1	UPI00003673C9	0	NA	ENST00000275053		ENSG00000146263	21475		77	0		HGNC	p.E73X		MMS22L		SNV							ENST00000509383	protein_coding	getma.org/?cm=var&var=hg19,6,97729186,C,A&fts=all		Pfam_domain:PF14910		E/*		A	NA	483/8643		NA		H9KVD8_HUMAN			YES	MMS22L,stop_gained,p.Glu73Ter,ENST00000275053,NM_198468.2;MMS22L,stop_gained,p.Glu73Ter,ENST00000369251,;MMS22L,upstream_gene_variant,,ENST00000510018,;RP3-418C23.2,upstream_gene_variant,,ENST00000457513,;MMS22L,stop_gained,p.Glu73Ter,ENST00000509383,;MMS22L,stop_gained,p.Glu73Ter,ENST00000496119,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508820,;MMS22L,non_coding_transcript_exon_variant,,ENST00000508976,;							HIGH	217/3732	E73*	MMS22_HUMAN			Transcript			.	ENSP00000275053		CCDS5039.1			1	
BPTF	0	LGGM	GRCh37	17	65850653	65850653	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	86	38	.	.	ENST00000306378.6:c.1211G>A	p.Cys404Tyr	p.C404Y	ENST00000306378	NM_182641.3	404	tGc/tAc	0	1		UPI0001838807	0	getma.org/pdb.php?prot=BPTF_HUMAN&from=392&to=437&var=C404Y	ENST00000321892		ENSG00000171634	3581		124	2.875		HGNC	p.C404Y		BPTF		SNV							ENST00000306378	protein_coding	getma.org/?cm=var&var=hg19,17,65850653,G,A&fts=all		PROSITE_profiles:PS50016,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903		C/Y		A	medium	1272/11292		getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=392&re=437&var=C404Y						BPTF,missense_variant,p.Cys404Tyr,ENST00000321892,;BPTF,missense_variant,p.Cys404Tyr,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Cys404Tyr,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Cys265Tyr,ENST00000424123,;BPTF,missense_variant,p.Cys404Tyr,ENST00000544778,;							MODERATE	1211/9141	C404Y	BPTF_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315454					1	
PARP14	0	LGGM	GRCh37	3	122432364	122432364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	55	39	.	.	ENST00000474629.2:c.3713A>T	p.Lys1238Ile	p.K1238I	ENST00000474629	NM_017554.2	1238	aAa/aTa	0	1	1	UPI00015A20AB	0	getma.org/pdb.php?prot=PAR14_HUMAN&from=1216&to=1387&var=K1238I	ENST00000474629		ENSG00000173193	29232		94	3.27		HGNC	p.K1079I		PARP14		SNV							ENST00000460683	protein_coding	getma.org/?cm=var&var=hg19,3,122432364,A,T&fts=all		PROSITE_profiles:PS51154,hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949		K/I		T	medium	3979/7915		getma.org/?cm=msa&ty=f&p=PAR14_HUMAN&rb=1216&re=1387&var=K1238I	deleterious(0)				YES	PARP14,missense_variant,p.Lys1238Ile,ENST00000474629,NM_017554.2;PARP14,upstream_gene_variant,,ENST00000475640,;PARP14,missense_variant,p.Lys1079Ile,ENST00000460683,;PARP14,non_coding_transcript_exon_variant,,ENST00000474669,;							MODERATE	3713/5406	K1238I	PAR14_HUMAN			Transcript		possibly_damaging(0.822)	.	ENSP00000418194		CCDS46894.1			1	
CENPC	0	LGGM	GRCh37	4	68384952	68384952	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	58	39	.	.	ENST00000273853.6:c.600A>T	p.Ser200=	p.S200=	ENST00000273853	NM_001812.2	200	tcA/tcT	0	1	1	UPI00004135A3	0		ENST00000273853		ENSG00000145241	1854		97			HGNC	p.S200S		CENPC		SNV							ENST00000506882	protein_coding			hmmpanther:PTHR16684,Pfam_domain:PF15622		S		A		851/3885							YES	CENPC,synonymous_variant,p.=,ENST00000273853,NM_001812.2;CENPC,synonymous_variant,p.=,ENST00000506882,;CENPC,synonymous_variant,p.=,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;CENPC,upstream_gene_variant,,ENST00000506410,;							LOW	600/2832		CENPC_HUMAN			Transcript			.	ENSP00000273853		CCDS47063.1			1	
SPRR1A	0	LGGM	GRCh37	1	152957778	152957778	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	66	43	.	.	ENST00000307122.2:c.72T>C	p.Pro24=	p.P24=	ENST00000307122	NM_001199828.1	24	ccT/ccC	0	1		UPI000013EBCC	0		ENST00000368762		ENSG00000169474	11259		109			HGNC	p.P24P		SPRR1A		SNV							ENST00000307122	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF49,hmmpanther:PTHR23263,Pfam_domain:PF02389,Prints_domain:PR00021		P		C		72/270								SPRR1A,synonymous_variant,p.=,ENST00000307122,NM_001199828.1,NM_005987.3;SPRR1A,synonymous_variant,p.=,ENST00000368762,;							LOW	72/270		SPR1A_HUMAN			Transcript			.	ENSP00000357751		CCDS1032.1			1	
CYP24A1	0	LGGM	GRCh37	20	52775634	52775634	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	31	43	.	.	ENST00000216862.3:c.1019A>G	p.Tyr340Cys	p.Y340C	ENST00000216862	NM_000782.4	340	tAc/tGc	0	1	1	UPI00001281B8	0	getma.org/pdb.php?prot=CP24A_HUMAN&from=58&to=512&var=Y340C	ENST00000216862		ENSG00000019186	2602		74	2.47		HGNC	p.Y340C	rs759597034	CYP24A1		SNV			1				ENST00000216862	protein_coding	getma.org/?cm=var&var=hg19,20,52775634,T,C&fts=all		Prints_domain:PR00463,Prints_domain:PR00385,Superfamily_domains:SSF48264,Pfam_domain:PF00067,Gene3D:1.10.630.10,hmmpanther:PTHR24291:SF5,hmmpanther:PTHR24291		Y/C		C	medium	1413/3262	1.50E-05	getma.org/?cm=msa&ty=f&p=CP24A_HUMAN&rb=58&re=512&var=Y340C	deleterious(0)				YES	CYP24A1,missense_variant,p.Tyr340Cys,ENST00000216862,NM_000782.4;CYP24A1,missense_variant,p.Tyr340Cys,ENST00000395955,NM_001128915.1;CYP24A1,missense_variant,p.Tyr198Cys,ENST00000395954,;CYP24A1,upstream_gene_variant,,ENST00000460643,;CYP24A1,downstream_gene_variant,,ENST00000487593,;							MODERATE	1019/1545	Y340C	CP24A_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000216862	8.24E-06	CCDS33491.1			1	
FAM198B	0	LGGM	GRCh37	4	159048650	159048650	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	35	43	.	.	ENST00000393807.5:c.1493A>T	p.Glu498Val	p.E498V	ENST00000393807	NM_001031700.2	498	gAa/gTa	0	1		UPI000004C63B	0	NA	ENST00000296530		ENSG00000164125	25312		78	2.095		HGNC	p.E498V		FAM198B		SNV							ENST00000393807	protein_coding	getma.org/?cm=var&var=hg19,4,159048650,T,A&fts=all		Pfam_domain:PF15051,hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF1		E/V		A	medium	2091/4985		getma.org/?cm=msa&ty=f&p=F198B_HUMAN&rb=1&re=517&var=E490V	deleterious(0)	Q9NYZ0_HUMAN,K7EK71_HUMAN,B4E252_HUMAN				FAM198B,missense_variant,p.Glu490Val,ENST00000296530,NM_016613.6;FAM198B,missense_variant,p.Glu490Val,ENST00000585682,NM_001128424.1;FAM198B,missense_variant,p.Glu498Val,ENST00000393807,NM_001031700.2;FAM198B,downstream_gene_variant,,ENST00000590648,;FAM198B,downstream_gene_variant,,ENST00000593260,;FAM198B,downstream_gene_variant,,ENST00000592586,;FAM198B,downstream_gene_variant,,ENST00000589306,;							MODERATE	1469/1560	E490V	F198B_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000296530		CCDS3798.1			1	
SDR42E1	0	LGGM	GRCh37	16	82033298	82033298	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	64	44	.	.	ENST00000328945.5:c.600A>T	p.Ile200=	p.I200=	ENST00000328945	NM_145168.2	200	atA/atT	0	1	1	UPI000003F552	0		ENST00000328945		ENSG00000184860	29834		108			HGNC	p.I200I		SDR42E1		SNV							ENST00000328945	protein_coding			Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Superfamily_domains:SSF51735		I		A		728/2805							YES	SDR42E1,synonymous_variant,p.=,ENST00000328945,NM_145168.2;SDR42E1,downstream_gene_variant,,ENST00000532128,;SDR42E1,downstream_gene_variant,,ENST00000534209,;							LOW	600/1182		D42E1_HUMAN			Transcript			.	ENSP00000332407		CCDS42205.1			1	
LYST	0	LGGM	GRCh37	1	235972292	235972292	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	66	44	.	.	ENST00000389794.3:c.1826A>T	p.Gln609Leu	p.Q609L	ENST00000389794		609	cAg/cTg	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		110	1.61		HGNC	p.Q609L	rs764206410	LYST		SNV			1				ENST00000536965	protein_coding	getma.org/?cm=var&var=hg19,1,235972292,T,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,Superfamily_domains:SSF48371		Q/L		A	low	2001/13471		getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=1&re=1457&var=Q609L	deleterious(0.02)					LYST,missense_variant,p.Gln609Leu,ENST00000389794,;LYST,missense_variant,p.Gln609Leu,ENST00000389793,NM_000081.3;LYST,missense_variant,p.Gln609Leu,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000465349,;	0.000116						MODERATE	1826/11406	Q609L	LYST_HUMAN			Transcript		benign(0.075)	.	ENSP00000374443	8.24E-06	CCDS31062.1			1	
GRIK1	0	LGGM	GRCh37	21	31027131	31027131	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	70	46	.	.	ENST00000399907.1:c.779T>A	p.Leu260Gln	p.L260Q	ENST00000399907	NM_000830.3	260	cTg/cAg	0	1	1	UPI000012B612	0	getma.org/pdb.php?prot=GRIK1_HUMAN&from=53&to=396&var=L260Q	ENST00000399907		ENSG00000171189	4579		116	2.965		HGNC	p.L260Q		GRIK1		SNV							ENST00000399914	protein_coding	getma.org/?cm=var&var=hg19,21,31027131,A,T&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36		L/Q		T	medium	1191/3472		getma.org/?cm=msa&ty=f&p=GRIK1_HUMAN&rb=53&re=396&var=L260Q	deleterious(0.02)	Q9UNN1_HUMAN,Q71UA3_HUMAN			YES	GRIK1,missense_variant,p.Leu260Gln,ENST00000399914,;GRIK1,missense_variant,p.Leu260Gln,ENST00000399907,NM_000830.3;GRIK1,missense_variant,p.Leu260Gln,ENST00000399909,;GRIK1,missense_variant,p.Leu260Gln,ENST00000399913,;GRIK1,missense_variant,p.Leu260Gln,ENST00000327783,;GRIK1,missense_variant,p.Leu260Gln,ENST00000389125,NM_175611.2;GRIK1,missense_variant,p.Leu260Gln,ENST00000535441,;GRIK1,missense_variant,p.Leu260Gln,ENST00000309434,;GRIK1,missense_variant,p.Leu260Gln,ENST00000389124,;RP11-313P22.1,upstream_gene_variant,,ENST00000608759,;GRIK1,splice_region_variant,,ENST00000472429,;							MODERATE	779/2757	L260Q	GRIK1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000382791		CCDS42913.1			1	
PCDHGB3	0	LGGM	GRCh37	5	140750631	140750631	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	55	46	.	.	ENST00000576222.1:c.670T>A	p.Cys224Ser	p.C224S	ENST00000576222	NM_018924.2	224	Tgt/Agt	0	1	1	UPI000006FA6F	0	NA	ENST00000576222		ENSG00000262209	8710		101	-2.18		HGNC	p.C224S		PCDHGB3		SNV							ENST00000576222	protein_coding	getma.org/?cm=var&var=hg19,5,140750631,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313		C/S		A	neutral	801/4727		getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=138&re=233&var=C224S	tolerated(0.23)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB3,missense_variant,p.Cys224Ser,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;							MODERATE	670/2790	C224S	PCDGF_HUMAN			Transcript		benign(0.004)	.	ENSP00000461862		CCDS58980.1			1	
CACNA1D	0	LGGM	GRCh37	3	53707110	53707110	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	42	48	.	.	ENST00000288139.4:c.1117-630G>A		*373*	ENST00000288139	NM_000720.3			0	1		UPI000013DEF4	0	getma.org/pdb.php?prot=CAC1D_HUMAN&from=163&to=405&var=G393R	ENST00000350061		ENSG00000157388	1391		90	4.47		HGNC	p.G393R		CACNA1D		SNV			1				ENST00000350061	protein_coding	getma.org/?cm=var&var=hg19,3,53707110,G,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		G/R		A	high	1688/7636		getma.org/?cm=msa&ty=f&p=CAC1D_HUMAN&rb=163&re=405&var=G393R	deleterious(0)					CACNA1D,missense_variant,p.Gly393Arg,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Gly393Arg,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Gly66Arg,ENST00000481478,;CACNA1D,intron_variant,,ENST00000288139,NM_000720.3;CACNA1D,intron_variant,,ENST00000481085,;CACNA1D,non_coding_transcript_exon_variant,,ENST00000498251,;CACNA1D,intron_variant,,ENST00000464429,;							MODERATE	1177/6486	G393R	CAC1D_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288133		CCDS46848.1			1	
PCDHGB3	0	LGGM	GRCh37	5	140750635	140750635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	53	48	.	.	ENST00000576222.1:c.674C>A	p.Thr225Asn	p.T225N	ENST00000576222	NM_018924.2	225	aCc/aAc	0	1	1	UPI000006FA6F	0	NA	ENST00000576222		ENSG00000262209	8710		101	2.91		HGNC	p.T225N		PCDHGB3		SNV							ENST00000576222	protein_coding	getma.org/?cm=var&var=hg19,5,140750635,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,SMART_domains:SM00112,Superfamily_domains:SSF49313		T/N		A	medium	805/4727		getma.org/?cm=msa&ty=f&p=PCDGF_HUMAN&rb=138&re=233&var=T225N	deleterious(0.01)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB3,missense_variant,p.Thr225Asn,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA6,upstream_gene_variant,,ENST00000517434,NM_018919.2,NM_032086.1;							MODERATE	674/2790	T225N	PCDGF_HUMAN			Transcript		possibly_damaging(0.645)	.	ENSP00000461862		CCDS58980.1			1	
MYBPC1	0	LGGM	GRCh37	12	102045075	102045075	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	8	49	.	.	ENST00000452455.2:c.1355T>A	p.Leu452Gln	p.L452Q	ENST00000452455	NM_001254718.1	452	cTg/cAg	0	1		UPI000012FBC7	0	getma.org/pdb.php?prot=MYPC1_HUMAN&from=433&to=507&var=L452Q	ENST00000550270		ENSG00000196091	7549		57	3.365		HGNC	p.L452Q		MYBPC1		SNV			1				ENST00000550270	protein_coding	getma.org/?cm=var&var=hg19,12,102045075,T,A&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF43,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/Q		A	medium	1355/3426		getma.org/?cm=msa&ty=f&p=MYPC1_HUMAN&rb=433&re=507&var=L452Q	deleterious(0)	F8W1Z9_HUMAN				MYBPC1,missense_variant,p.Leu465Gln,ENST00000549145,;MYBPC1,missense_variant,p.Leu353Gln,ENST00000551300,;MYBPC1,missense_variant,p.Leu452Gln,ENST00000441232,NM_001254719.1;MYBPC1,missense_variant,p.Leu477Gln,ENST00000361466,NM_002465.3;MYBPC1,missense_variant,p.Leu477Gln,ENST00000361685,NM_206819.2;MYBPC1,missense_variant,p.Leu452Gln,ENST00000452455,NM_001254718.1;MYBPC1,missense_variant,p.Leu452Gln,ENST00000360610,NM_206820.2;MYBPC1,missense_variant,p.Leu426Gln,ENST00000547405,NM_001254722.1;MYBPC1,missense_variant,p.Leu452Gln,ENST00000553190,NM_206821.2;MYBPC1,missense_variant,p.Leu438Gln,ENST00000547509,;MYBPC1,missense_variant,p.Leu439Gln,ENST00000392934,NM_001254723.1;MYBPC1,missense_variant,p.Leu452Gln,ENST00000545503,;MYBPC1,missense_variant,p.Leu440Gln,ENST00000541119,NM_001254720.1;MYBPC1,missense_variant,p.Leu433Gln,ENST00000536007,NM_001254721.1;MYBPC1,missense_variant,p.Leu452Gln,ENST00000550270,;RP11-755O11.2,intron_variant,,ENST00000547027,;RP11-755O11.2,upstream_gene_variant,,ENST00000552081,;MYBPC1,intron_variant,,ENST00000550501,;							MODERATE	1355/3426	L452Q	MYPC1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000449702		CCDS9085.1			1	
PIGP	0	LGGM	GRCh37	21	38444841	38444841	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	91	50	.	.	ENST00000464265.1:c.47A>G	p.His16Arg	p.H16R	ENST00000464265	NM_153681.2	16	cAc/cGc	0	1	1	UPI00001AFA97	0	NA	ENST00000464265		ENSG00000185808	3046		141	0.55		HGNC	p.H16R		PIGP		SNV							ENST00000464265	protein_coding	getma.org/?cm=var&var=hg19,21,38444841,T,C&fts=all		PIRSF_domain:PIRSF008765,hmmpanther:PTHR21726		H/R		C	neutral	271/3437		getma.org/?cm=msa&ty=f&p=PIGP_HUMAN&rb=1&re=33&var=H16R	deleterious_low_confidence(0.03)				YES	PIGP,missense_variant,p.His16Arg,ENST00000464265,NM_153681.2;PIGP,splice_region_variant,,ENST00000360525,NM_153682.2;PIGP,splice_region_variant,,ENST00000399098,;PIGP,splice_region_variant,,ENST00000399102,;PIGP,splice_region_variant,,ENST00000399103,;PIGP,5_prime_UTR_variant,,ENST00000430792,;TTC3,upstream_gene_variant,,ENST00000355666,NM_001001894.1;TTC3,upstream_gene_variant,,ENST00000418766,;TTC3,upstream_gene_variant,,ENST00000438055,;TTC3,upstream_gene_variant,,ENST00000450533,;TTC3,upstream_gene_variant,,ENST00000399010,;TTC3,upstream_gene_variant,,ENST00000540756,;TTC3,upstream_gene_variant,,ENST00000485402,;TTC3,upstream_gene_variant,,ENST00000481605,;TTC3,upstream_gene_variant,,ENST00000494243,;TTC3,upstream_gene_variant,,ENST00000463216,;TTC3,upstream_gene_variant,,ENST00000492275,;PIGP,upstream_gene_variant,,ENST00000329667,;PIGP,non_coding_transcript_exon_variant,,ENST00000479152,;							MODERATE	47/477	H16R	PIGP_HUMAN			Transcript		benign(0.001)	.	ENSP00000420037		CCDS13649.1			1	
CTPS2	0	LGGM	GRCh37	X	16717063	16717063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	56	56	.	.	ENST00000443824.1:c.320T>A	p.Leu107Gln	p.L107Q	ENST00000443824	NM_001144002.1	107	cTg/cAg	0	1		UPI0000073CBD	0	getma.org/pdb.php?prot=PYRG2_HUMAN&from=1&to=281&var=L107Q	ENST00000359276		ENSG00000047230	2520		112	3.88		HGNC	p.L107Q		CTPS2		SNV							ENST00000380241	protein_coding	getma.org/?cm=var&var=hg19,X,16717063,A,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF06418,hmmpanther:PTHR11550,hmmpanther:PTHR11550:SF2,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00337		L/Q		T	high	677/3629		getma.org/?cm=msa&ty=f&p=PYRG2_HUMAN&rb=1&re=281&var=L107Q	deleterious(0)					CTPS2,missense_variant,p.Leu107Gln,ENST00000443824,NM_001144002.1;CTPS2,missense_variant,p.Leu107Gln,ENST00000359276,NM_175859.1;CTPS2,missense_variant,p.Leu107Gln,ENST00000380241,NM_019857.3;							MODERATE	320/1761	L107Q	PYRG2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000352222		CCDS14175.1			1	
BRINP2	0	LGGM	GRCh37	1	177247831	177247831	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	70	57	.	.	ENST00000361539.4:c.1145T>A	p.Leu382Gln	p.L382Q	ENST00000361539	NM_021165.2	382	cTg/cAg	0	1	1	UPI000006DF55	0	NA	ENST00000361539		ENSG00000198797	13746		127	1.175		HGNC	p.L382Q		BRINP2		SNV							ENST00000361539	protein_coding	getma.org/?cm=var&var=hg19,1,177247831,T,A&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5		L/Q		A	low	1457/3558		getma.org/?cm=msa&ty=f&p=FAM5B_HUMAN&rb=194&re=393&var=L382Q	tolerated(0.17)				YES	BRINP2,missense_variant,p.Leu382Gln,ENST00000361539,NM_021165.2;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;							MODERATE	1145/2352	L382Q	BRNP2_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000354481		CCDS1320.1			1	
TXNRD1	0	LGGM	GRCh37	12	104712751	104712751	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H081081	H081081N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	13	59	.	.	ENST00000525566.1:c.791G>A	p.Trp264Ter	p.W264*	ENST00000525566	NM_001093771.2	264	tGg/tAg	0	1	1	UPI00015294EE	0	NA	ENST00000525566		ENSG00000198431	12437		72	0		HGNC	p.W164X		TXNRD1		SNV							ENST00000542918	protein_coding	getma.org/?cm=var&var=hg19,12,104712751,G,A&fts=all		Superfamily_domains:SSF51905,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01438,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129		W/*		A	NA	815/3836		NA		F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN			YES	TXNRD1,stop_gained,p.Trp166Ter,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,stop_gained,p.Trp114Ter,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,stop_gained,p.Trp166Ter,ENST00000388854,;TXNRD1,stop_gained,p.Trp213Ter,ENST00000378070,;TXNRD1,stop_gained,p.Trp264Ter,ENST00000525566,NM_001093771.2;TXNRD1,stop_gained,p.Trp264Ter,ENST00000429002,;TXNRD1,stop_gained,p.Trp158Ter,ENST00000526390,;TXNRD1,stop_gained,p.Trp114Ter,ENST00000354940,NM_182742.2;TXNRD1,stop_gained,p.Trp229Ter,ENST00000427956,;TXNRD1,stop_gained,p.Trp158Ter,ENST00000397736,;TXNRD1,stop_gained,p.Trp76Ter,ENST00000540716,;TXNRD1,stop_gained,p.Trp76Ter,ENST00000529546,;TXNRD1,stop_gained,p.Trp114Ter,ENST00000524698,;TXNRD1,stop_gained,p.Trp164Ter,ENST00000542918,;TXNRD1,stop_gained,p.Trp183Ter,ENST00000526950,;TXNRD1,stop_gained,p.Trp114Ter,ENST00000527335,;TXNRD1,intron_variant,,ENST00000529751,;TXNRD1,downstream_gene_variant,,ENST00000531691,;TXNRD1,downstream_gene_variant,,ENST00000526266,;TXNRD1,downstream_gene_variant,,ENST00000531689,;TXNRD1,downstream_gene_variant,,ENST00000526580,;TXNRD1,stop_gained,p.Trp114Ter,ENST00000527688,;							HIGH	791/1950	W264*	TRXR1_HUMAN			Transcript			.	ENSP00000434516		CCDS53820.1			1	
PCLO	0	LGGM	GRCh37	7	82585821	82585821	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	89	65	.	.	ENST00000333891.9:c.4448G>A	p.Ser1483Asn	p.S1483N	ENST00000333891	NM_033026.5	1483	aGc/aAc	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406	8.67E-05	154	0.55		HGNC	p.S1483N	rs367943127	PCLO		SNV	T:0.0003		1	0.000102			ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82585821,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		S/N	T:0	T	neutral	4786/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1255&re=1454&var=S1414N					YES	PCLO,missense_variant,p.Ser1483Asn,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ser1483Asn,ENST00000423517,NM_014510.2;							MODERATE	4448/15429	S1414N	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319	1.66E-05	CCDS47630.1			1	
FAM35A	0	LGGM	GRCh37	10	88950359	88950359	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H081081	H081081N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	89	66	.	.	ENST00000298784.1:c.2427del	p.Asn809LysfsTer19	p.N809Kfs*19	ENST00000298784	NM_019054.2	809	aaC/aa	0	1	1	UPI000013E51A	0		ENST00000298784		ENSG00000122376	28773		155			HGNC	p.N809fs		FAM35A		deletion							ENST00000358313	protein_coding			hmmpanther:PTHR14495,hmmpanther:PTHR14495:SF1		N/X		-		2541/3402				U3KQ89_HUMAN			YES	FAM35A,frameshift_variant,p.Asn878LysfsTer19,ENST00000298786,;FAM35A,frameshift_variant,p.Asn809LysfsTer19,ENST00000298784,NM_019054.2;							HIGH	2427/2508		FA35A_HUMAN			Transcript			.	ENSP00000298784		CCDS7383.1			1	
CR1	0	LGGM	GRCh37	1	207785311	207785311	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	97	72	.	.	ENST00000367049.4:c.6500A>T	p.Gln2167Leu	p.Q2167L	ENST00000367049	NM_000651.4	2167	cAa/cTa	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1711&to=1769&var=Q1717L	ENST00000367051		ENSG00000203710	2334		169	1.86		HGNC	p.Q1717L		CR1		SNV			1				ENST00000367051	protein_coding	getma.org/?cm=var&var=hg19,1,207785311,A,T&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,SMART_domains:SM00032,Superfamily_domains:SSF57535		Q/L		T	low	5261/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1711&re=1769&var=Q1717L	deleterious(0.02)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Gln2167Leu,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Gln1717Leu,ENST00000367051,;CR1,missense_variant,p.Gln1717Leu,ENST00000367052,;CR1,missense_variant,p.Gln1717Leu,ENST00000367053,;CR1,missense_variant,p.Gln1717Leu,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000529814,;CR1,downstream_gene_variant,,ENST00000534202,;							MODERATE	5150/6120	Q1717L	CR1_HUMAN			Transcript		possibly_damaging(0.668)	.	ENSP00000356018					1	
RASSF9	0	LGGM	GRCh37	12	86198687	86198687	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081081	H081081N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	7	75	.	.	ENST00000361228.3:c.1101T>A	p.Leu367=	p.L367=	ENST00000361228	NM_005447.3	367	ctT/ctA	0	1	1	UPI000003E7E4	0		ENST00000361228		ENSG00000198774	15739		82			HGNC	p.L367L		RASSF9		SNV							ENST00000361228	protein_coding			hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10		L		T		1470/1826							YES	RASSF9,synonymous_variant,p.=,ENST00000361228,NM_005447.3;							LOW	1101/1308		RASF9_HUMAN			Transcript			.	ENSP00000354884		CCDS44950.1			1	
ZNF792	0	LGGM	GRCh37	19	35450214	35450214	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081081	H081081N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081081N.bam, H081081T.bam	Illumina HiSeq	81	124	.	.	ENST00000404801.1:c.545A>T	p.Gln182Leu	p.Q182L	ENST00000404801	NM_175872.4	182	cAg/cTg	0	1	1	UPI0000202090	0	getma.org/pdb.php?prot=ZN792_HUMAN&from=55&to=254&var=Q182L	ENST00000404801		ENSG00000180884	24751		205	1.24		HGNC	p.Q182L		ZNF792		SNV							ENST00000404801	protein_coding	getma.org/?cm=var&var=hg19,19,35450214,T,A&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187		Q/L		A	low	932/3888		getma.org/?cm=msa&ty=f&p=ZN792_HUMAN&rb=55&re=254&var=Q182L	tolerated(0.15)	S4R3B8_HUMAN			YES	ZNF792,missense_variant,p.Gln182Leu,ENST00000404801,NM_175872.4;ZNF792,missense_variant,p.Gln115Leu,ENST00000605484,;							MODERATE	545/1899	Q182L	ZN792_HUMAN			Transcript		benign(0.218)	.	ENSP00000385099		CCDS12440.2			1	
LAMA5	0	LGGM	GRCh37	20	60904310	60904310	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	27	3	.	.	ENST00000252999.3:c.4120-1G>T		p.X1374_splice	ENST00000252999	NM_005560.4			0	1	1	UPI0000161FDC	0		ENST00000252999		ENSG00000130702	6485		30			HGNC	-		LAMA5		SNV							ENST00000252999	protein_coding							A		-/11426				O75079_HUMAN			YES	LAMA5,splice_acceptor_variant,,ENST00000252999,NM_005560.4;MIR4758,downstream_gene_variant,,ENST00000577688,;LAMA5,upstream_gene_variant,,ENST00000497363,;LAMA5,upstream_gene_variant,,ENST00000464134,;							HIGH	4120/11088		LAMA5_HUMAN			Transcript			.	ENSP00000252999		CCDS33502.1			1	
LRRC9	0	LGGM	GRCh37	14	60411309	60411309	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	35	3	.	.	ENST00000445360.1:c.729C>A	p.Thr243=	p.T243=	ENST00000445360		243	acC/acA	0	1	1	UPI000173AA0B	0		ENST00000445360		ENSG00000131951	19848		38			HGNC	p.T243T		LRRC9		SNV							ENST00000445360	protein_coding			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF223		T		A		933/4717				H3BUS4_HUMAN			YES	LRRC9,splice_region_variant,p.=,ENST00000445360,;LRRC9,splice_region_variant,,ENST00000454474,;LRRC9,splice_region_variant,p.=,ENST00000254271,;							LOW	729/4362		LRRC9_HUMAN			Transcript			.	ENSP00000454748					1	
C6orf118	0	LGGM	GRCh37	6	165711582	165711582	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	24	3	.	.	ENST00000230301.8:c.945G>T	p.Leu315=	p.L315=	ENST00000230301	NM_144980.3	315	ctG/ctT	0	1	1	UPI0000367401	0		ENST00000230301		ENSG00000112539	21233		27			HGNC	p.L315L		C6orf118		SNV							ENST00000230301	protein_coding					L		A		966/1812							YES	C6orf118,synonymous_variant,p.=,ENST00000543069,;C6orf118,synonymous_variant,p.=,ENST00000230301,NM_144980.3;C6orf118,upstream_gene_variant,,ENST00000494696,;							LOW	945/1410		CF118_HUMAN			Transcript			.	ENSP00000230301		CCDS5288.1			1	
COLEC12	0	LGGM	GRCh37	18	334995	334995	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	18	3	.	.	ENST00000400256.3:c.1563C>A	p.Gly521=	p.G521=	ENST00000400256	NM_130386.2	521	ggC/ggA	0	1	1	UPI00002018EC	0		ENST00000400256		ENSG00000158270	16016		21			HGNC	p.G521G		COLEC12		SNV							ENST00000400256	protein_coding			hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19,Low_complexity_(Seg):seg		G		T		1771/3121							YES	COLEC12,synonymous_variant,p.=,ENST00000400256,NM_130386.2;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;							LOW	1563/2229		COL12_HUMAN			Transcript			.	ENSP00000383115		CCDS32782.1			1	
IGKV2D-28	0	LGGM	GRCh37	2	89999526	89999526	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	17	3	.	.	ENST00000453166.2:c.328G>T	p.Val110Phe	p.V110F	ENST00000453166		110	Gtt/Ttt	0	1	1	UPI00005FFCB1	0		ENST00000453166		ENSG00000242534	5799		20			HGNC	p.V90F		IGKV2D-28		SNV							ENST00000558026	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF155,SMART_domains:SM00406,Superfamily_domains:SSF48726		V/F		T		364/396			deleterious(0.04)				YES	IGKV2D-28,missense_variant,p.Val110Phe,ENST00000453166,;IGKV2D-28,missense_variant,p.Val90Phe,ENST00000558026,;							MODERATE	328/360					Transcript		benign(0.317)	.	ENSP00000393492					1	
HDHD1	0	LGGM	GRCh37	X	6968456	6968456	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	15	3	.	.	ENST00000424830.2:c.637C>T	p.Gln213Ter	p.Q213*	ENST00000424830	NM_001135565.1	213	Cag/Tag	0	1		UPI000013CD53	0	NA	ENST00000381077		ENSG00000130021	16818		18	0		HGNC	p.Q213X		HDHD1		SNV							ENST00000424830	protein_coding	getma.org/?cm=var&var=hg19,X,6968456,G,A&fts=all		hmmpanther:PTHR18901:SF10,hmmpanther:PTHR18901,TIGRFAM_domain:TIGR01509,Pfam_domain:PF13419,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784		Q/*		A	NA	645/2140		NA						HDHD1,stop_gained,p.Gln190Ter,ENST00000381077,NM_012080.4,NM_001178136.1;HDHD1,stop_gained,p.Gln147Ter,ENST00000412827,;HDHD1,stop_gained,p.Gln213Ter,ENST00000424830,NM_001135565.1;							HIGH	568/687	Q190*	HDHD1_HUMAN			Transcript			.	ENSP00000370467		CCDS48075.1			1	
ROCK2	0	LGGM	GRCh37	2	11348415	11348415	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	13	3	.	.	ENST00000315872.6:c.2362G>T	p.Asp788Tyr	p.D788Y	ENST00000315872	NM_004850.3	788	Gat/Tat	0	1	1	UPI000034ECB0	0	NA	ENST00000315872		ENSG00000134318	10252		16	0.69		HGNC	p.D788Y		ROCK2		SNV							ENST00000315872	protein_coding	getma.org/?cm=var&var=hg19,2,11348415,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988:SF24,hmmpanther:PTHR22988,PIRSF_domain:PIRSF037568		D/Y		A	neutral	2811/8292		getma.org/?cm=msa&ty=f&p=ROCK2_HUMAN&rb=755&re=954&var=D788Y	deleterious(0)	Q14DU5_HUMAN,E9PF63_HUMAN			YES	ROCK2,missense_variant,p.Asp788Tyr,ENST00000315872,NM_004850.3;ROCK2,missense_variant,p.Asp545Tyr,ENST00000401753,;							MODERATE	2362/4167	D788Y	ROCK2_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000317985		CCDS42654.1			1	
GLE1	0	LGGM	GRCh37	9	131277826	131277826	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	17	3	.	.	ENST00000309971.4:c.340C>A	p.His114Asn	p.H114N	ENST00000309971	NM_001003722.1	114	Cac/Aac	0	1	1	UPI000013EF77	0	NA	ENST00000309971		ENSG00000119392	4315		20	0.69		HGNC	p.H114N		GLE1		SNV			1				ENST00000309971	protein_coding	getma.org/?cm=var&var=hg19,9,131277826,C,A&fts=all		hmmpanther:PTHR12960:SF0,hmmpanther:PTHR12960		H/N		A	neutral	446/3321		getma.org/?cm=msa&ty=f&p=GLE1_HUMAN&rb=1&re=392&var=H114N	tolerated(0.32)	B3KMG0_HUMAN			YES	GLE1,missense_variant,p.His114Asn,ENST00000309971,NM_001003722.1;GLE1,missense_variant,p.His114Asn,ENST00000372770,NM_001499.2;GLE1,5_prime_UTR_variant,,ENST00000539582,;							MODERATE	340/2097	H114N	GLE1_HUMAN			Transcript		benign(0.004)	.	ENSP00000308622		CCDS35154.1			1	
AKAP1	0	LGGM	GRCh37	17	55195815	55195815	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	20	3	.	.	ENST00000337714.3:c.2574G>T	p.Gln858His	p.Q858H	ENST00000337714	NM_003488.3	858	caG/caT	0	1	1	UPI0000125778	0	NA	ENST00000337714		ENSG00000121057	367		23	2.16		HGNC	p.Q858H		AKAP1		SNV							ENST00000539273	protein_coding	getma.org/?cm=var&var=hg19,17,55195815,G,T&fts=all		hmmpanther:PTHR12727		Q/H		T	medium	2807/3970		getma.org/?cm=msa&ty=f&p=AKAP1_HUMAN&rb=829&re=903&var=Q858H	deleterious(0)	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN			YES	AKAP1,missense_variant,p.Gln858His,ENST00000337714,NM_003488.3;AKAP1,missense_variant,p.Gln858His,ENST00000539273,NM_001242903.1;AKAP1,missense_variant,p.Gln858His,ENST00000571629,NM_001242902.1;AKAP1,missense_variant,p.Gln858His,ENST00000572557,;AKAP1,missense_variant,p.Gln147His,ENST00000575032,;AKAP1,missense_variant,p.Gln91His,ENST00000572560,;AKAP1,splice_region_variant,,ENST00000481416,;AKAP1,splice_region_variant,,ENST00000573326,;							MODERATE	2574/2712	Q858H	AKAP1_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000337736		CCDS11594.1			1	
FNBP4	0	LGGM	GRCh37	11	47774600	47774600	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	20	3	.	.	ENST00000263773.5:c.505C>A	p.Pro169Thr	p.P169T	ENST00000263773	NM_015308.2	169	Cca/Aca	0	1	1	UPI0000DBEF37	0	NA	ENST00000263773		ENSG00000109920	19752		23	2.045		HGNC	p.P169T		FNBP4		SNV							ENST00000263773	protein_coding	getma.org/?cm=var&var=hg19,11,47774600,G,T&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186,Low_complexity_(Seg):seg		P/T		T	medium	518/3969		getma.org/?cm=msa&ty=f&p=FNBP4_HUMAN&rb=1&re=200&var=P169T	deleterious(0.01)				YES	FNBP4,missense_variant,p.Pro169Thr,ENST00000263773,NM_015308.2;FNBP4,missense_variant,p.Ser123Tyr,ENST00000540172,;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,non_coding_transcript_exon_variant,,ENST00000542975,;FNBP4,non_coding_transcript_exon_variant,,ENST00000533707,;							MODERATE	505/3054	P169T	FNBP4_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000263773		CCDS41644.1			1	
RAVER1	0	LGGM	GRCh37	19	10443994	10443994	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	28	3	.	.	ENST00000293677.6:c.241C>G	p.Arg81Gly	p.R81G	ENST00000293677	NM_133452.2	81	Cgg/Ggg	0	1	1	UPI0000E042A4	0	getma.org/pdb.php?prot=RAVR1_HUMAN&from=61&to=124&var=R64G	ENST00000293677		ENSG00000161847	30296		31	0.24		HGNC	p.R81G		RAVER1		SNV							ENST00000293677	protein_coding	getma.org/?cm=var&var=hg19,19,10443994,G,C&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF46,Gene3D:3.30.70.330,Pfam_domain:PF14259,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/G		C	neutral	323/3595		getma.org/?cm=msa&ty=f&p=RAVR1_HUMAN&rb=61&re=124&var=R64G	deleterious(0)	K7EQG2_HUMAN,E9PAU2_HUMAN			YES	RAVER1,missense_variant,p.Arg81Gly,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,missense_variant,p.Arg59Gly,ENST00000591969,;RAVER1,non_coding_transcript_exon_variant,,ENST00000592208,;ICAM3,downstream_gene_variant,,ENST00000587992,;ICAM3,downstream_gene_variant,,ENST00000589900,;ICAM3,downstream_gene_variant,,ENST00000585439,;							MODERATE	241/2271	R64G				Transcript		probably_damaging(0.958)	.	ENSP00000293677		CCDS45960.1			1	
RAD54L2	0	LGGM	GRCh37	3	51696650	51696650	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	24	3	.	.	ENST00000409535.2:c.3618G>A	p.Pro1206=	p.P1206=	ENST00000409535	NM_015106.2	1206	ccG/ccA	0	1	1	UPI000022C0AA	0		ENST00000409535		ENSG00000164080	29123		27			HGNC	p.P900P		RAD54L2		SNV							ENST00000296477	protein_coding			hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799		P		A		3743/9776				E7EU19_HUMAN			YES	RAD54L2,synonymous_variant,p.=,ENST00000409535,NM_015106.2;RAD54L2,synonymous_variant,p.=,ENST00000432863,;RAD54L2,synonymous_variant,p.=,ENST00000296477,;TEX264,upstream_gene_variant,,ENST00000419358,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;							LOW	3618/4404		ARIP4_HUMAN			Transcript			.	ENSP00000386520		CCDS33765.2			1	
MEST	0	LGGM	GRCh37	7	130138068	130138068	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081559	H081559N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	45	3	.	.	ENST00000223215.4:c.428T>A	p.Leu143His	p.L143H	ENST00000223215	NM_001253900.1	143	cTt/cAt	0	1	1	UPI000006DE62	0	getma.org/pdb.php?prot=MEST_HUMAN&from=72&to=327&var=L143H	ENST00000223215		ENSG00000106484	7028		48	3.37		HGNC	p.L134H		MEST		SNV							ENST00000378576	protein_coding	getma.org/?cm=var&var=hg19,7,130138068,T,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF12697,Prints_domain:PR00412,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF25,Superfamily_domains:SSF53474		L/H		A	medium	649/2465		getma.org/?cm=msa&ty=f&p=MEST_HUMAN&rb=72&re=327&var=L143H	deleterious(0.03)	C9JCM6_HUMAN,C9JWU9_HUMAN,C9JUD2_HUMAN,C9JRA9_HUMAN,C9JG66_HUMAN,A4D1L9_HUMAN			YES	MEST,start_lost,p.Leu1?,ENST00000463263,;MEST,missense_variant,p.Leu143His,ENST00000223215,NM_001253900.1,NM_002402.3;MEST,missense_variant,p.Leu134His,ENST00000341441,NM_177524.2;MEST,missense_variant,p.Leu134His,ENST00000393187,NM_177525.2;MEST,missense_variant,p.Leu134His,ENST00000378576,;MEST,missense_variant,p.Leu134His,ENST00000416162,NM_001253902.1,NM_001253901.1;MEST,missense_variant,p.Leu143His,ENST00000437945,;MEST,missense_variant,p.Leu134His,ENST00000427521,;MEST,missense_variant,p.Leu134His,ENST00000421001,;MEST,missense_variant,p.Leu134His,ENST00000433159,;MEST,missense_variant,p.Leu134His,ENST00000458161,;MEST,downstream_gene_variant,,ENST00000437637,;MEST,downstream_gene_variant,,ENST00000399874,;MIR335,downstream_gene_variant,,ENST00000362173,;hsa-mir-335,non_coding_transcript_exon_variant,,ENST00000604666,;MEST,non_coding_transcript_exon_variant,,ENST00000462132,;MEST,downstream_gene_variant,,ENST00000460590,;MEST,non_coding_transcript_exon_variant,,ENST00000475188,;MEST,non_coding_transcript_exon_variant,,ENST00000494868,;MEST,upstream_gene_variant,,ENST00000488093,;							MODERATE	428/1008	L143H	MEST_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000223215		CCDS5822.1			1	
FAM50B	0	LGGM	GRCh37	6	3850775	3850775	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	24	3	.	.	ENST00000380274.1:c.730C>A	p.Leu244Met	p.L244M	ENST00000380274		244	Ctg/Atg	0	1		UPI000003373E	0	NA	ENST00000380272		ENSG00000145945	18789		27	0.765		HGNC	p.L244M		FAM50B		SNV							ENST00000380274	protein_coding	getma.org/?cm=var&var=hg19,6,3850775,C,A&fts=all		Pfam_domain:PF04921,hmmpanther:PTHR12722:SF1,hmmpanther:PTHR12722		L/M		A	neutral	852/1628		getma.org/?cm=msa&ty=f&p=FA50B_HUMAN&rb=83&re=325&var=L244M	deleterious(0.02)					FAM50B,missense_variant,p.Leu244Met,ENST00000380274,;FAM50B,missense_variant,p.Leu244Met,ENST00000380272,NM_012135.1;RP11-420L9.4,intron_variant,,ENST00000454396,;							MODERATE	730/978	L244M	FA50B_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000369625		CCDS4487.1			1	
AIMP2	0	LGGM	GRCh37	7	6062992	6062992	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	41	3	.	.	ENST00000223029.3:c.633G>A	p.Gly211=	p.G211=	ENST00000223029	NM_006303.3	211	ggG/ggA	0	1	1	UPI000012ED59	0		ENST00000223029		ENSG00000106305	20609		44			HGNC	p.G142G		AIMP2		SNV							ENST00000395236	protein_coding			hmmpanther:PTHR13438,hmmpanther:PTHR13438:SF2		G		A		752/1225				A8MU58_HUMAN			YES	AIMP2,synonymous_variant,p.=,ENST00000223029,NM_006303.3;AIMP2,synonymous_variant,p.=,ENST00000400479,;AIMP2,synonymous_variant,p.=,ENST00000395236,;EIF2AK1,3_prime_UTR_variant,,ENST00000199389,NM_001134335.1,NM_014413.3;EIF2AK1,3_prime_UTR_variant,,ENST00000422786,;EIF2AK1,downstream_gene_variant,,ENST00000536084,;EIF2AK1,downstream_gene_variant,,ENST00000490523,;							LOW	633/963		AIMP2_HUMAN			Transcript			.	ENSP00000223029		CCDS5344.1			1	
PDYN	0	LGGM	GRCh37	20	1961588	1961588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	34	3	.	.	ENST00000217305.2:c.146G>T	p.Cys49Phe	p.C49F	ENST00000217305	NM_024411.4	49	tGc/tTc	0	1	1	UPI000012FE6A	0	NA	ENST00000217305		ENSG00000101327	8820		37	2.805		HGNC	p.C49F		PDYN		SNV			1				ENST00000539905	protein_coding	getma.org/?cm=var&var=hg19,20,1961588,C,A&fts=all		Pfam_domain:PF01160,Prints_domain:PR01028,Prints_domain:PR01028,PROSITE_patterns:PS01252,hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4		C/F		A	medium	372/2555		getma.org/?cm=msa&ty=f&p=PDYN_HUMAN&rb=21&re=69&var=C49F	deleterious(0)	Q2YEM6_HUMAN,Q2YEL0_HUMAN,B4DIB7_HUMAN			YES	PDYN,missense_variant,p.Cys49Phe,ENST00000217305,NM_024411.4,NM_001190898.2,NM_001190892.1;PDYN,missense_variant,p.Cys49Phe,ENST00000539905,NM_001190899.2;PDYN,missense_variant,p.Cys49Phe,ENST00000540134,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;							MODERATE	146/765	C49F	PDYN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000217305		CCDS13023.1			1	
CCT2	0	LGGM	GRCh37	12	69987351	69987351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	34	3	.	.	ENST00000299300.6:c.940C>A	p.His314Asn	p.H314N	ENST00000299300	NM_006431.2	314	Cat/Aat	0	1	1	UPI0000136AF3	0	getma.org/pdb.php?prot=TCPB_HUMAN&from=35&to=525&var=H314N	ENST00000299300		ENSG00000166226	1615		37	2.205		HGNC	p.H314N		CCT2		SNV							ENST00000550010	protein_coding	getma.org/?cm=var&var=hg19,12,69987351,C,A&fts=all		hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02341,Pfam_domain:PF00118,Gene3D:3.50.7.10,Superfamily_domains:SSF52029		H/N		A	medium	1128/2041		getma.org/?cm=msa&ty=f&p=TCPB_HUMAN&rb=35&re=525&var=H314N	deleterious(0.05)	Q9H369_HUMAN			YES	CCT2,missense_variant,p.His267Asn,ENST00000543146,NM_001198842.1;CCT2,missense_variant,p.His314Asn,ENST00000299300,NM_006431.2;CCT2,missense_variant,p.His314Asn,ENST00000544368,;CCT2,missense_variant,p.His314Asn,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,;							MODERATE	940/1608	H314N	TCPB_HUMAN			Transcript		possibly_damaging(0.749)	.	ENSP00000299300		CCDS8991.1			1	
RNF34	0	LGGM	GRCh37	12	121855430	121855430	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	35	3	.	.	ENST00000392465.3:c.352C>T	p.Arg118Ter	p.R118*	ENST00000392465	NM_194271.2	118	Cga/Tga	0	1		UPI000006FBBD	0	NA	ENST00000361234		ENSG00000170633	17297		38	0		HGNC	p.R118X	COSM247082	RNF34		SNV						1	ENST00000392465	protein_coding	getma.org/?cm=var&var=hg19,12,121855430,C,T&fts=all		hmmpanther:PTHR14879:SF3,hmmpanther:PTHR14879,Superfamily_domains:SSF57903		R/*		T	NA	521/2066		NA		G3V5F1_HUMAN,G3V504_HUMAN,G3V4D1_HUMAN				RNF34,stop_gained,p.Arg117Ter,ENST00000361234,NM_025126.3;RNF34,stop_gained,p.Arg118Ter,ENST00000392465,NM_194271.2;RNF34,stop_gained,p.Arg117Ter,ENST00000392464,;RNF34,stop_gained,p.Arg110Ter,ENST00000554606,;RNF34,intron_variant,,ENST00000555076,;RNF34,downstream_gene_variant,,ENST00000554868,;RNF34,downstream_gene_variant,,ENST00000557402,;RNF34,non_coding_transcript_exon_variant,,ENST00000553407,;RNF34,upstream_gene_variant,,ENST00000554484,;RNF34,downstream_gene_variant,,ENST00000556562,;					1		HIGH	349/1119	R117*	RNF34_HUMAN			Transcript			.	ENSP00000355137		CCDS31915.1			1	
FAHD2A	0	LGGM	GRCh37	2	96071529	96071529	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	12	3	.	.	ENST00000233379.4:c.223G>T	p.Ala75Ser	p.A75S	ENST00000233379	NM_016044.2	75	Gcc/Tcc	0	1	1	UPI000006D4CC	0	NA	ENST00000233379		ENSG00000115042	24252		15	0.755		HGNC	p.A75S		FAHD2A		SNV							ENST00000233379	protein_coding	getma.org/?cm=var&var=hg19,2,96071529,G,T&fts=all		hmmpanther:PTHR11820,hmmpanther:PTHR11820:SF74		A/S		T	neutral	376/4757		getma.org/?cm=msa&ty=f&p=FAH2A_HUMAN&rb=1&re=106&var=A75S	tolerated(0.79)	C9JGM0_HUMAN,C9J5B6_HUMAN			YES	FAHD2A,missense_variant,p.Ala75Ser,ENST00000233379,NM_016044.2;FAHD2A,missense_variant,p.Ala75Ser,ENST00000447036,;FAHD2A,missense_variant,p.Ala75Ser,ENST00000418606,;FAHD2A,missense_variant,p.Ala75Ser,ENST00000445649,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000463940,;FAHD2A,upstream_gene_variant,,ENST00000470100,;							MODERATE	223/945	A75S	FAH2A_HUMAN			Transcript		benign(0.001)	.	ENSP00000233379		CCDS2014.1			1	
FN1	0	LGGM	GRCh37	2	216247030	216247030	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081559	H081559N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	31	3	.	.	ENST00000354785.4:c.5069T>C	p.Ile1690Thr	p.I1690T	ENST00000354785		1690	aTt/aCt	0	1		UPI00001AEBF3	0	getma.org/pdb.php?prot=FINC_HUMAN&from=1543&to=1623&var=I1599T	ENST00000359671		ENSG00000115414	3778		34	2.85		HGNC	p.I1599T	COSM258995	FN1		SNV			1			1	ENST00000446046	protein_coding	getma.org/?cm=var&var=hg19,2,216247030,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/T		G	medium	5062/8524		getma.org/?cm=msa&ty=f&p=FINC_HUMAN&rb=1543&re=1623&var=I1599T	deleterious(0)	Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,missense_variant,p.Ile1690Thr,ENST00000354785,;FN1,missense_variant,p.Ile1690Thr,ENST00000323926,NM_212482.1;FN1,missense_variant,p.Ile1599Thr,ENST00000359671,;FN1,missense_variant,p.Ile1599Thr,ENST00000336916,NM_212478.1,NM_002026.2;FN1,missense_variant,p.Ile1599Thr,ENST00000421182,;FN1,missense_variant,p.Ile1599Thr,ENST00000357009,;FN1,missense_variant,p.Ile1599Thr,ENST00000346544,;FN1,missense_variant,p.Ile1599Thr,ENST00000446046,;FN1,missense_variant,p.Ile1599Thr,ENST00000345488,;FN1,missense_variant,p.Ile1599Thr,ENST00000357867,NM_212474.1;FN1,missense_variant,p.Ile1599Thr,ENST00000356005,NM_212476.1;FN1,missense_variant,p.Ile1599Thr,ENST00000443816,;FN1,missense_variant,p.Ile1690Thr,ENST00000432072,;FN1,missense_variant,p.Ile406Thr,ENST00000456923,;FN1,non_coding_transcript_exon_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,non_coding_transcript_exon_variant,,ENST00000480737,;FN1,upstream_gene_variant,,ENST00000474036,;					1		MODERATE	4796/7161	I1599T	FINC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352696					1	
HIVEP2	0	LGGM	GRCh37	6	143091968	143091968	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	86	4	.	.	ENST00000367603.2:c.3908G>C	p.Ser1303Thr	p.S1303T	ENST00000367603	NM_006734.3	1303	aGt/aCt	0	1		UPI00004708DD	0	NA	ENST00000012134		ENSG00000010818	4921		90	0.805		HGNC	p.S1303T		HIVEP2		SNV							ENST00000367604	protein_coding	getma.org/?cm=var&var=hg19,6,143091968,C,G&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF53		S/T		G	low	4453/9524		getma.org/?cm=msa&ty=f&p=ZEP2_HUMAN&rb=375&re=1775&var=S1303T	tolerated(0.74)	B4DKE9_HUMAN				HIVEP2,missense_variant,p.Ser1303Thr,ENST00000367603,NM_006734.3;HIVEP2,missense_variant,p.Ser1303Thr,ENST00000367604,;HIVEP2,missense_variant,p.Ser1303Thr,ENST00000012134,;							MODERATE	3908/7341	S1303T	ZEP2_HUMAN			Transcript		benign(0)	.	ENSP00000012134		CCDS43510.1			1	
DLG2	0	LGGM	GRCh37	11	83676490	83676490	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	79	4	.	.	ENST00000376104.2:c.1078G>T	p.Glu360Ter	p.E360*	ENST00000376104	NM_001142699.1	360	Gaa/Taa	0	1		UPI000047CAFF	0	NA	ENST00000398309		ENSG00000150672	2901		83	0		HGNC	p.E222X		DLG2		SNV							ENST00000531015	protein_coding	getma.org/?cm=var&var=hg19,11,83676490,C,A&fts=all		Superfamily_domains:SSF50156,SMART_domains:SM00228,PIRSF_domain:PIRSF001741,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF6,PROSITE_profiles:PS50106		E/*		A	NA	1234/7890		NA		F8W750_HUMAN,E9PQT9_HUMAN				DLG2,stop_gained,p.Glu255Ter,ENST00000398309,NM_001364.3;DLG2,stop_gained,p.Glu360Ter,ENST00000376104,NM_001142699.1;DLG2,stop_gained,p.Glu360Ter,ENST00000543673,;DLG2,stop_gained,p.Glu294Ter,ENST00000280241,NM_001206769.1;DLG2,stop_gained,p.Glu204Ter,ENST00000418306,NM_001142700.1;DLG2,stop_gained,p.Glu222Ter,ENST00000531015,;DLG2,stop_gained,p.Glu255Ter,ENST00000532653,;DLG2,stop_gained,p.Glu255Ter,ENST00000524982,;DLG2,stop_gained,p.Glu9Ter,ENST00000537455,;DLG2,stop_gained,p.Glu194Ter,ENST00000330014,;DLG2,stop_gained,p.Glu294Ter,ENST00000398301,;DLG2,stop_gained,p.Glu172Ter,ENST00000398299,;DLG2,5_prime_UTR_variant,,ENST00000376106,;DLG2,non_coding_transcript_exon_variant,,ENST00000529111,;							HIGH	763/2613	E255*	DLG2_HUMAN			Transcript			.	ENSP00000381355		CCDS41696.1			1	
ATL1	0	LGGM	GRCh37	14	51080049	51080049	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081559	H081559N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	26	4	.	.	ENST00000358385.6:c.703T>C	p.Phe235Leu	p.F235L	ENST00000358385	NM_015915.4	235	Ttc/Ctc	0	1	1	UPI0000073893	0	getma.org/pdb.php?prot=ATLA1_HUMAN&from=43&to=314&var=F235L	ENST00000358385		ENSG00000198513	11231		30	0.655		HGNC	p.F235L		ATL1		SNV			1				ENST00000354525	protein_coding	getma.org/?cm=var&var=hg19,14,51080049,T,C&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF02263,hmmpanther:PTHR10751:SF15,hmmpanther:PTHR10751,PROSITE_profiles:PS51715		F/L		C	neutral	944/2647		getma.org/?cm=msa&ty=f&p=ATLA1_HUMAN&rb=43&re=314&var=F235L	tolerated(0.55)	G3V5T4_HUMAN,G3V4Y8_HUMAN,G3V334_HUMAN,G3V321_HUMAN			YES	ATL1,missense_variant,p.Phe235Leu,ENST00000441560,NM_001127713.1;ATL1,missense_variant,p.Phe235Leu,ENST00000358385,NM_015915.4;ATL1,missense_variant,p.Phe235Leu,ENST00000357032,;ATL1,missense_variant,p.Phe235Leu,ENST00000354525,NM_181598.3;ATL1,downstream_gene_variant,,ENST00000554886,;ATL1,upstream_gene_variant,,ENST00000555266,;							MODERATE	703/1677	F235L	ATLA1_HUMAN			Transcript		benign(0.023)	.	ENSP00000351155		CCDS9700.1			1	
PPIP5K2	0	LGGM	GRCh37	5	102486996	102486996	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	93	4	.	.	ENST00000321521.9:c.946C>T	p.Gln316Ter	p.Q316*	ENST00000321521		316	Cag/Tag	0	1		UPI0000070504	0	NA	ENST00000358359		ENSG00000145725	29035		97	0		HGNC	p.Q316X		PPIP5K2		SNV							ENST00000358359	protein_coding	getma.org/?cm=var&var=hg19,5,102486996,C,T&fts=all		Superfamily_domains:SSF56059,hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750		Q/*		T	NA	1455/5813		NA		K7EPT7_HUMAN,D6RFG4_HUMAN				PPIP5K2,stop_gained,p.Gln316Ter,ENST00000321521,;PPIP5K2,stop_gained,p.Gln316Ter,ENST00000358359,NM_001281471.1,NM_001276277.1;PPIP5K2,stop_gained,p.Gln316Ter,ENST00000414217,NM_015216.3;PPIP5K2,stop_gained,p.Gln238Ter,ENST00000507921,;PPIP5K2,downstream_gene_variant,,ENST00000507310,;PPIP5K2,downstream_gene_variant,,ENST00000502481,;PPIP5K2,non_coding_transcript_exon_variant,,ENST00000513500,;							HIGH	946/3732	Q316*	VIP2_HUMAN			Transcript			.	ENSP00000351126		CCDS64212.1			1	
COL5A3	0	LGGM	GRCh37	19	10088375	10088375	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	6	4	.	.	ENST00000264828.3:c.3021C>A	p.Gly1007=	p.G1007=	ENST00000264828	NM_015719.3	1007	ggC/ggA	0	1	1	UPI00002032A3	0		ENST00000264828		ENSG00000080573	14864		10			HGNC	p.G1007G	COSM1471108	COL5A3	0.000109	SNV				0.000498		1	ENST00000264828	protein_coding			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400		G		T		3107/6174	0.000138						YES	COL5A3,splice_region_variant,p.=,ENST00000264828,NM_015719.3;	0.00029				1		LOW	3021/5238		CO5A3_HUMAN	0.00066		Transcript			common_variant	ENSP00000264828	0.000214	CCDS12222.1			1	
ANK2	0	LGGM	GRCh37	4	114275498	114275498	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	60	4	.	.	ENST00000357077.4:c.5724C>T	p.Gly1908=	p.G1908=	ENST00000357077	NM_001148.4	1908	ggC/ggT	0	1	1	UPI0000441EF3	0		ENST00000357077		ENSG00000145362	493		64			HGNC	p.G1875G		ANK2		SNV			1				ENST00000264366	protein_coding			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		G		T		5777/14196				D6RHC5_HUMAN			YES	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,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,;							LOW	5724/11874		ANK2_HUMAN			Transcript			.	ENSP00000349588		CCDS3702.1			1	
EML5	0	LGGM	GRCh37	14	89160660	89160660	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	84	4	.	.	ENST00000554922.1:c.2530C>T	p.Arg844Cys	p.R844C	ENST00000554922	NM_183387.2	844	Cgt/Tgt	0	1		UPI000183882B	0	getma.org/pdb.php?prot=EMAL5_HUMAN&from=803&to=991&var=R844C	ENST00000380664		ENSG00000165521	18197		88	0		HGNC	p.R844C	rs757894610,COSM958540	EML5		SNV						0,1	ENST00000352093	protein_coding	getma.org/?cm=var&var=hg19,14,89160660,G,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,Low_complexity_(Seg):seg,SMART_domains:SM00320		R/C		A	neutral	2530/5910		getma.org/?cm=msa&ty=f&p=EMAL5_HUMAN&rb=803&re=991&var=R844C	deleterious(0.02)					EML5,missense_variant,p.Arg844Cys,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Arg844Cys,ENST00000352093,;EML5,missense_variant,p.Arg844Cys,ENST00000380664,;EML5,3_prime_UTR_variant,,ENST00000553281,;					0,1		MODERATE	2530/5910	R844C	EMAL5_HUMAN			Transcript		benign(0.276)	.	ENSP00000370039	8.31E-06				1	
TSC1	0	LGGM	GRCh37	9	135772575	135772575	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	77	4	.	.	ENST00000298552.3:c.2971G>T	p.Glu991Ter	p.E991*	ENST00000298552	NM_001162426.1	991	Gaa/Taa	0	1	1	UPI000013773E	0	NA	ENST00000298552		ENSG00000165699	12362		81	0		HGNC	p.E940X		TSC1		SNV			1				ENST00000545250	protein_coding	getma.org/?cm=var&var=hg19,9,135772575,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15154,Low_complexity_(Seg):seg		E/*		A	NA	3193/8604		NA					YES	TSC1,stop_gained,p.Glu991Ter,ENST00000298552,NM_001162426.1,NM_001162427.1,NM_000368.4;TSC1,stop_gained,p.Glu991Ter,ENST00000440111,;TSC1,stop_gained,p.Glu940Ter,ENST00000545250,;							HIGH	2971/3495	E991*	TSC1_HUMAN			Transcript			.	ENSP00000298552		CCDS6956.1			1	
RASA1	0	LGGM	GRCh37	5	86675590	86675590	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	84	4	.	.	ENST00000274376.6:c.2526C>A	p.Asn842Lys	p.N842K	ENST00000274376	NM_002890.2	842	aaC/aaA	0	1	1	UPI00001351F3	0	getma.org/pdb.php?prot=RASA1_HUMAN&from=769&to=942&var=N842K	ENST00000274376		ENSG00000145715	9871		88	0.75		HGNC	p.N675K		RASA1		SNV			1				ENST00000512763	protein_coding	getma.org/?cm=var&var=hg19,5,86675590,C,A&fts=all		Gene3D:1.10.506.10,Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350		N/K		A	neutral	3090/3752		getma.org/?cm=msa&ty=f&p=RASA1_HUMAN&rb=769&re=942&var=N842K	tolerated(0.69)	B4DTL8_HUMAN			YES	RASA1,missense_variant,p.Asn665Lys,ENST00000456692,NM_022650.2;RASA1,missense_variant,p.Asn842Lys,ENST00000274376,NM_002890.2;RASA1,missense_variant,p.Asn675Lys,ENST00000512763,;RASA1,missense_variant,p.Asn676Lys,ENST00000506290,;CTC-428H11.2,upstream_gene_variant,,ENST00000607486,;RASA1,3_prime_UTR_variant,,ENST00000515800,;							MODERATE	2526/3144	N842K	RASA1_HUMAN			Transcript		benign(0.179)	.	ENSP00000274376		CCDS34200.1			1	
NAT8	0	LGGM	GRCh37	2	73868274	73868274	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081559	H081559N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	54	4	.	.	ENST00000272425.3:c.482T>G	p.Val161Gly	p.V161G	ENST00000272425	NM_003960.3	161	gTc/gGc	0	1	1	UPI00000707D4	0	getma.org/pdb.php?prot=NAT8_HUMAN&from=112&to=194&var=V161G	ENST00000272425		ENSG00000144035	18069		58	2.08		HGNC	p.V161G		NAT8		SNV							ENST00000272425	protein_coding	getma.org/?cm=var&var=hg19,2,73868274,A,C&fts=all		Gene3D:3.40.630.30,Pfam_domain:PF00583,PROSITE_profiles:PS51186,hmmpanther:PTHR13947,hmmpanther:PTHR13947:SF14,Superfamily_domains:SSF55729		V/G		C	medium	632/947		getma.org/?cm=msa&ty=f&p=NAT8_HUMAN&rb=112&re=194&var=V161G	deleterious(0)				YES	NAT8,missense_variant,p.Val161Gly,ENST00000272425,NM_003960.3,NM_016347.2;ALMS1P,upstream_gene_variant,,ENST00000450720,;							MODERATE	482/684	V161G	NAT8_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000272425		CCDS1926.1			1	
ARHGEF26	0	LGGM	GRCh37	3	153958197	153958197	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081559	H081559N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	63	4	.	.	ENST00000356448.4:c.2129A>G	p.Asp710Gly	p.D710G	ENST00000356448	NM_001251962.1	710	gAt/gGt	0	1	1	UPI00001410D0	0	NA	ENST00000356448		ENSG00000114790	24490		67	1.305		HGNC	p.D710G		ARHGEF26		SNV							ENST00000465093	protein_coding	getma.org/?cm=var&var=hg19,3,153958197,A,G&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF4,SMART_domains:SM00233,Superfamily_domains:SSF50729		D/G		G	low	2413/5254		getma.org/?cm=msa&ty=f&p=ARHGQ_HUMAN&rb=652&re=781&var=D710G	deleterious(0.03)				YES	ARHGEF26,missense_variant,p.Asp710Gly,ENST00000356448,NM_001251962.1;ARHGEF26,missense_variant,p.Asp710Gly,ENST00000465093,NM_015595.3,NM_001251963.1;ARHGEF26,intron_variant,,ENST00000465817,;ARHGEF26,non_coding_transcript_exon_variant,,ENST00000483068,;ARHGEF26,missense_variant,p.Asp710Gly,ENST00000496710,;							MODERATE	2129/2616	D710G	ARHGQ_HUMAN			Transcript		benign(0.013)	.	ENSP00000348828		CCDS46938.1			1	
EXOC6	0	LGGM	GRCh37	10	94654715	94654715	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	99	5	.	.	ENST00000260762.6:c.350G>T	p.Arg117Leu	p.R117L	ENST00000260762	NM_019053.4	117	cGa/cTa	0	1	1	UPI0000141914	0	NA	ENST00000260762		ENSG00000138190	23196		104	1.895		HGNC	p.R133L		EXOC6		SNV							ENST00000371547	protein_coding	getma.org/?cm=var&var=hg19,10,94654715,G,T&fts=all		hmmpanther:PTHR12702:SF2,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007		R/L		T	low	364/3564		getma.org/?cm=msa&ty=f&p=EXOC6_HUMAN&rb=1&re=200&var=R117L	deleterious(0.01)	Q9NTA6_HUMAN,H0Y5J8_HUMAN,B1AP46_HUMAN			YES	EXOC6,missense_variant,p.Arg112Leu,ENST00000371552,NM_001013848.2;EXOC6,missense_variant,p.Arg117Leu,ENST00000260762,NM_019053.4;EXOC6,missense_variant,p.Arg117Leu,ENST00000443748,;EXOC6,missense_variant,p.Arg133Leu,ENST00000371547,;EXOC6,missense_variant,p.Arg117Leu,ENST00000371543,;							MODERATE	350/2415	R117L	EXOC6_HUMAN			Transcript		benign(0.019)	.	ENSP00000260762		CCDS7424.2			1	
GPR98	0	LGGM	GRCh37	5	90024577	90024577	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	127	5	.	.	ENST00000405460.2:c.10253C>T	p.Ser3418Phe	p.S3418F	ENST00000405460	NM_032119.3	3418	tCt/tTt	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		132	1.52		HGNC	p.S3418F	rs576708435	GPR98	0.00115	SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90024577,C,T&fts=all	T:0	Pfam_domain:PF03736,PROSITE_profiles:PS50912,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		S/F		T	low	10349/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=3394&re=3439&var=S3418F			T:0	T:0	YES	GPR98,missense_variant,p.Ser3418Phe,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ser984Phe,ENST00000509621,;		T:0.0004					MODERATE	10253/18921	S3418F	GPR98_HUMAN		T:0	Transcript		benign(0.005)	common_variant	ENSP00000384582	0.000157	CCDS47246.1		T:0.002	1	
FAM205B	0	LGGM	GRCh37	9	34834051	34834051	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	54	5	.	.	ENST00000399773.6:n.2250G>T		*750*	ENST00000399773				0	1	1		0		ENST00000399773		ENSG00000257198	24504		59			HGNC	p.A480S		FAM205B		SNV							ENST00000455647	transcribed_unprocessed_pseudogene							A		2250/4009							YES	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;							MODIFIER						Transcript			.						1	
TRIML2	0	LGGM	GRCh37	4	189018265	189018265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H081559	H081559N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	65	5	.	.	ENST00000512729.1:c.545T>A	p.Leu182Gln	p.L182Q	ENST00000512729	NM_173553.1	182	cTg/cAg	0	1	1	UPI000007300A	0	NA	ENST00000512729		ENSG00000179046	26378		70	2.485		HGNC	p.L207Q		TRIML2		SNV							ENST00000326754	protein_coding	getma.org/?cm=var&var=hg19,4,189018265,A,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF267,hmmpanther:PTHR24103		L/Q		T	medium	920/1639		getma.org/?cm=msa&ty=f&p=TRIMM_HUMAN&rb=181&re=379&var=L182Q	deleterious(0.01)				YES	TRIML2,missense_variant,p.Leu182Gln,ENST00000512729,NM_173553.1;TRIML2,missense_variant,p.Leu207Gln,ENST00000326754,;TRIML2,downstream_gene_variant,,ENST00000536972,;TRIML2,3_prime_UTR_variant,,ENST00000503141,;TRIML2,3_prime_UTR_variant,,ENST00000503475,;TRIML2,downstream_gene_variant,,ENST00000511771,;							MODERATE	545/1164	L182Q	TRIMM_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000422581		CCDS3850.1			1	
USP6	0	LGGM	GRCh37	17	5073940	5073940	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	96	6	.	.	ENST00000574788.1:c.3684C>A	p.Ser1228Arg	p.S1228R	ENST00000574788		1228	agC/agA	0	1		UPI000006226F	0	NA	ENST00000250066		ENSG00000129204	12629		102	1.04		HGNC	p.S1228R		USP6		SNV							ENST00000574788	protein_coding	getma.org/?cm=var&var=hg19,17,5073940,C,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF380,hmmpanther:PTHR24006,Pfam_domain:PF00443		S/R		A	low	5383/7976		getma.org/?cm=msa&ty=f&p=UBP6_HUMAN&rb=529&re=1366&var=S1228R	deleterious_low_confidence(0.03)	Q6U210_HUMAN				USP6,missense_variant,p.Ser1228Arg,ENST00000574788,;USP6,missense_variant,p.Ser911Arg,ENST00000304328,;USP6,missense_variant,p.Ser1228Arg,ENST00000250066,NM_004505.2;USP6,3_prime_UTR_variant,,ENST00000332776,;USP6,3_prime_UTR_variant,,ENST00000575709,;USP6,3_prime_UTR_variant,,ENST00000572949,;							MODERATE	3684/4221	S1228R	UBP6_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000250066		CCDS11069.2			1	
ARFGEF1	0	LGGM	GRCh37	8	68204234	68204234	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081559	H081559N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	114	6	.	.	ENST00000262215.3:c.764A>C	p.Asp255Ala	p.D255A	ENST00000262215	NM_006421.4	255	gAt/gCt	0	1	1	UPI000013D275	0	NA	ENST00000262215		ENSG00000066777	15772		120	0.755		HGNC	p.D255A		ARFGEF1		SNV							ENST00000262215	protein_coding	getma.org/?cm=var&var=hg19,8,68204234,T,G&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137		D/A		G	neutral	1154/7225		getma.org/?cm=msa&ty=f&p=BIG1_HUMAN&rb=201&re=400&var=D255A	tolerated(0.34)	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN			YES	ARFGEF1,missense_variant,p.Asp255Ala,ENST00000262215,NM_006421.4;							MODERATE	764/5550	D255A	BIG1_HUMAN			Transcript		benign(0.012)	.	ENSP00000262215		CCDS6199.1			1	
BUD13	0	LGGM	GRCh37	11	116633784	116633784	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	71	6	.	.	ENST00000260210.4:c.521C>T	p.Thr174Ile	p.T174I	ENST00000260210	NM_032725.3	174	aCa/aTa	0	1	1	UPI0000072AE6	0	NA	ENST00000260210		ENSG00000137656	28199		77	0.345		HGNC	p.T174I		BUD13		SNV							ENST00000260210	protein_coding	getma.org/?cm=var&var=hg19,11,116633784,G,A&fts=all		hmmpanther:PTHR31809		T/I		A	neutral	545/2196		getma.org/?cm=msa&ty=f&p=BUD13_HUMAN&rb=111&re=411&var=T174I	tolerated(0.2)				YES	BUD13,missense_variant,p.Thr174Ile,ENST00000260210,NM_032725.3;BUD13,missense_variant,p.Thr174Ile,ENST00000375445,NM_001159736.1;BUD13,upstream_gene_variant,,ENST00000419189,;							MODERATE	521/1860	T174I	BUD13_HUMAN			Transcript		benign(0.001)	.	ENSP00000260210		CCDS8374.1			1	
SLITRK1	0	LGGM	GRCh37	13	84455258	84455258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	99	7	.	.	ENST00000377084.2:c.385C>A	p.Leu129Met	p.L129M	ENST00000377084	NM_052910.2	129	Ctg/Atg	0	1	1	UPI0000035971	0	getma.org/pdb.php?prot=SLIK1_HUMAN&from=106&to=165&var=L129M	ENST00000377084		ENSG00000178235	20297		106	2.54		HGNC	p.L129M		SLITRK1		SNV			1				ENST00000377084	protein_coding	getma.org/?cm=var&var=hg19,13,84455258,G,T&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00369,Superfamily_domains:SSF52058		L/M		T	medium	1271/5185		getma.org/?cm=msa&ty=f&p=SLIK1_HUMAN&rb=106&re=165&var=L129M	deleterious(0)				YES	SLITRK1,missense_variant,p.Leu129Met,ENST00000377084,NM_052910.2,NM_001281503.1;							MODERATE	385/2091	L129M	SLIK1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000366288		CCDS9464.1			1	
TRPM7	0	LGGM	GRCh37	15	50940883	50940883	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H081559	H081559N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	100	9	.	.	ENST00000313478.7:c.321+1G>T		p.X107_splice	ENST00000313478	NM_017672.4			0	1	1	UPI0000071CBA	0		ENST00000313478		ENSG00000092439	17994		109			HGNC	-		TRPM7		SNV			1				ENST00000560955	protein_coding							A		-/7263							YES	TRPM7,splice_donor_variant,,ENST00000313478,NM_017672.4;TRPM7,splice_donor_variant,,ENST00000560955,;							HIGH	321/5598		TRPM7_HUMAN			Transcript			.	ENSP00000320239		CCDS42035.1			1	
MUC16	0	LGGM	GRCh37	19	9073764	9073764	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081559	H081559N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	87	9	.	.	ENST00000397910.4:c.13682C>G	p.Pro4561Arg	p.P4561R	ENST00000397910	NM_024690.2	4561	cCa/cGa	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		96	1.355		HGNC	p.P4561R		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9073764,G,C&fts=all				P/R		C	low	13886/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=P4563R		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Pro4561Arg,ENST00000397910,NM_024690.2;							MODERATE	13682/43524	P4563R				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
SANBR	0	LGGM	GRCh37	2	61336358	61336358	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081559	H081559N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	142	9	.	.	ENST00000402291.1:c.1671A>C	p.Glu557Asp	p.E557D	ENST00000402291	NM_001129993.1	557	gaA/gaC	0	1	1	UPI0000197410	0	NA	ENST00000402291		ENSG00000162929	29387		151	1.255		HGNC	p.E557D		KIAA1841		SNV							ENST00000295031	protein_coding	getma.org/?cm=var&var=hg19,2,61336358,A,C&fts=all		hmmpanther:PTHR20946,hmmpanther:PTHR20946:SF0		E/D		C	low	1912/4516		getma.org/?cm=msa&ty=f&p=K1841_HUMAN&rb=450&re=649&var=E557D	tolerated(0.97)				YES	KIAA1841,missense_variant,p.Glu557Asp,ENST00000402291,NM_001129993.1;KIAA1841,missense_variant,p.Glu557Asp,ENST00000453873,;KIAA1841,missense_variant,p.Glu557Asp,ENST00000295031,NM_032506.2;KIAA1841,missense_variant,p.Glu557Asp,ENST00000356719,;KIAA1841,3_prime_UTR_variant,,ENST00000453186,;							MODERATE	1671/2157	E557D	K1841_HUMAN			Transcript		benign(0.002)	.	ENSP00000385579		CCDS46296.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H081559	H081559N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081559N.bam, H081559T.bam	Illumina HiSeq	160	79	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			239		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
DNHD1	0	LGGM	GRCh37	11	6566608	6566608	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	0	2	.	.	ENST00000254579.6:c.4439C>A	p.Ala1480Asp	p.A1480D	ENST00000254579	NM_144666.2	1480	gCc/gAc	0	1	1	UPI0001929529	0	NA	ENST00000254579		ENSG00000179532	26532		2	1.61		HGNC	p.A1480D		DNHD1		SNV							ENST00000527990	protein_coding	getma.org/?cm=var&var=hg19,11,6566608,C,A&fts=all		hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676		A/D		A	low	5003/14862		getma.org/?cm=msa&ty=f&p=DNHD1_HUMAN&rb=1471&re=1648&var=A1480D					YES	DNHD1,missense_variant,p.Ala1480Asp,ENST00000254579,NM_144666.2;DNHD1,missense_variant,p.Ala1480Asp,ENST00000527990,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,intron_variant,,ENST00000534210,;DNHD1,upstream_gene_variant,,ENST00000533649,;							MODERATE	4439/14262	A1480D	DNHD1_HUMAN			Transcript		benign(0.01)	.	ENSP00000254579		CCDS44532.1			1	
DCHS2	0	LGGM	GRCh37	4	155412389	155412389	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	0	2	.	.	ENST00000339452.1:c.119G>T	p.Gly40Val	p.G40V	ENST00000339452	NM_001142552.1	40	gGc/gTc	0	1	1	UPI00002372F1	0	NA	ENST00000339452		ENSG00000197410	23111		2	1.525		HGNC	p.G33V		DCHS2		SNV							ENST00000456341	protein_coding	getma.org/?cm=var&var=hg19,4,155412389,C,A&fts=all				G/V		A	low	480/5055		getma.org/?cm=msa&ty=f&p=B2RU14_HUMAN&rb=1&re=200&var=G40V	deleterious(0.01)					DCHS2,missense_variant,p.Gly40Val,ENST00000339452,NM_001142552.1;DCHS2,missense_variant,p.Gly40Val,ENST00000443500,NM_001142553.1;DCHS2,missense_variant,p.Gly33Val,ENST00000456341,;							MODERATE	119/4110	G40V	PCD23_HUMAN			Transcript		benign(0.007)	.	ENSP00000345062		CCDS47150.1			1	
MST1R	0	LGGM	GRCh37	3	49940434	49940434	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	2	.	.	ENST00000296474.3:c.609G>C	p.Leu203=	p.L203=	ENST00000296474	NM_002447.2	203	ctG/ctC	0	1	1	UPI000013E344	0		ENST00000296474		ENSG00000164078	7381		8			HGNC	p.L203L		MST1R		SNV							ENST00000411578	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF01403,PIRSF_domain:PIRSF000617,PROSITE_profiles:PS51004,Low_complexity_(Seg):seg,SMART_domains:SM00630,Superfamily_domains:SSF101912		L		G		637/4536							YES	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,;							LOW	609/4203		RON_HUMAN			Transcript			.	ENSP00000296474		CCDS2807.1			1	
MAN2C1	0	LGGM	GRCh37	15	75656518	75656518	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	3	2	.	.	ENST00000565683.1:c.612G>C	p.Lys204Asn	p.K204N	ENST00000565683	NM_001256494.1	204	aaG/aaC	0	1		UPI000012EAC8	0	NA	ENST00000267978		ENSG00000140400	6827		5	0.55		HGNC	p.K162N		MAN2C1		SNV							ENST00000568374	protein_coding	getma.org/?cm=var&var=hg19,15,75656518,C,G&fts=all		hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607,Gene3D:3.20.110.10		K/N		G	neutral	659/3284		getma.org/?cm=msa&ty=f&p=MA2C1_HUMAN&rb=201&re=251&var=K204N	tolerated(0.08)	H3BRV3_HUMAN				MAN2C1,missense_variant,p.Lys204Asn,ENST00000565683,NM_001256494.1;MAN2C1,missense_variant,p.Lys204Asn,ENST00000267978,NM_006715.3;MAN2C1,missense_variant,p.Lys204Asn,ENST00000569482,NM_001256495.1;MAN2C1,missense_variant,p.Lys162Asn,ENST00000568374,;MAN2C1,intron_variant,,ENST00000563622,NM_001256496.1;MAN2C1,downstream_gene_variant,,ENST00000566256,;MAN2C1,downstream_gene_variant,,ENST00000561615,;RP11-817O13.8,upstream_gene_variant,,ENST00000563278,;MAN2C1,intron_variant,,ENST00000563539,;MAN2C1,upstream_gene_variant,,ENST00000566253,;MAN2C1,missense_variant,p.Lys87Asn,ENST00000570257,;MAN2C1,3_prime_UTR_variant,,ENST00000569355,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565534,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000565699,;MAN2C1,intron_variant,,ENST00000566634,;MAN2C1,intron_variant,,ENST00000421803,;MAN2C1,intron_variant,,ENST00000565784,;MAN2C1,upstream_gene_variant,,ENST00000564785,;MAN2C1,upstream_gene_variant,,ENST00000567163,;MAN2C1,upstream_gene_variant,,ENST00000569176,;MAN2C1,upstream_gene_variant,,ENST00000563013,;MAN2C1,upstream_gene_variant,,ENST00000563794,;MAN2C1,upstream_gene_variant,,ENST00000564570,;MAN2C1,upstream_gene_variant,,ENST00000566013,;MAN2C1,upstream_gene_variant,,ENST00000563368,;MAN2C1,upstream_gene_variant,,ENST00000562228,;MAN2C1,upstream_gene_variant,,ENST00000565801,;MAN2C1,downstream_gene_variant,,ENST00000565652,;MAN2C1,upstream_gene_variant,,ENST00000563596,;MAN2C1,downstream_gene_variant,,ENST00000562071,;MAN2C1,upstream_gene_variant,,ENST00000563058,;MAN2C1,upstream_gene_variant,,ENST00000562461,;MAN2C1,upstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000569069,;MAN2C1,upstream_gene_variant,,ENST00000565953,;							MODERATE	612/3123	K204N	MA2C1_HUMAN			Transcript		benign(0.007)	.	ENSP00000267978		CCDS32298.1			1	
BST2	0	LGGM	GRCh37	19	17514940	17514940	+	frameshift_variant,splice_region_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	4	2	.	.	ENST00000252593.6:c.411del	p.Arg138GlufsTer7	p.R138Efs*7	ENST00000252593	NM_004335.2	137	ctG/ct	0	1	1	UPI000004494D	0		ENST00000252593		ENSG00000130303	1119		6			HGNC	p.L137fs		BST2		deletion							ENST00000252593	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15190,hmmpanther:PTHR15190:SF1		L/X		-		484/1019							YES	BST2,frameshift_variant,p.Arg138GlufsTer7,ENST00000252593,NM_004335.2;MVB12A,upstream_gene_variant,,ENST00000528911,;MVB12A,upstream_gene_variant,,ENST00000600514,;MVB12A,upstream_gene_variant,,ENST00000528604,;CTD-2521M24.9,upstream_gene_variant,,ENST00000500836,;CTD-2521M24.9,upstream_gene_variant,,ENST00000534306,;CTD-2521M24.9,upstream_gene_variant,,ENST00000600369,;CTD-2521M24.9,upstream_gene_variant,,ENST00000601885,;CTD-2521M24.9,upstream_gene_variant,,ENST00000594426,;CTD-2521M24.9,upstream_gene_variant,,ENST00000595892,;CTD-2521M24.9,upstream_gene_variant,,ENST00000594913,;CTD-2521M24.9,upstream_gene_variant,,ENST00000596322,;CTD-2521M24.9,upstream_gene_variant,,ENST00000600008,;CTD-2521M24.9,upstream_gene_variant,,ENST00000598356,;CTD-2521M24.9,upstream_gene_variant,,ENST00000598546,;CTD-2521M24.9,upstream_gene_variant,,ENST00000601007,;CTD-2521M24.9,upstream_gene_variant,,ENST00000599975,;BST2,splice_region_variant,,ENST00000527220,;MVB12A,upstream_gene_variant,,ENST00000529490,;BST2,splice_region_variant,,ENST00000533098,;							HIGH	411/543		BST2_HUMAN			Transcript			.	ENSP00000252593		CCDS12358.1			1	
BEND3	0	LGGM	GRCh37	6	107390914	107390914	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	0	2	.	.	ENST00000429433.2:c.1481C>A	p.Pro494Gln	p.P494Q	ENST00000429433	NM_001080450.2	494	cCg/cAg	0	1		UPI00001D80D7	0	NA	ENST00000369042		ENSG00000178409	23040		2	0		HGNC	p.P494Q		BEND3		SNV							ENST00000429433	protein_coding	getma.org/?cm=var&var=hg19,6,107390914,G,T&fts=all				P/Q		T	neutral	1672/6200		getma.org/?cm=msa&ty=f&p=BEND3_HUMAN&rb=486&re=570&var=P494Q	tolerated(0.35)					BEND3,missense_variant,p.Pro494Gln,ENST00000429433,NM_001080450.2;BEND3,missense_variant,p.Pro494Gln,ENST00000369042,;							MODERATE	1481/2487	P494Q	BEND3_HUMAN			Transcript		benign(0.001)	.	ENSP00000358038		CCDS34507.1			1	
FAM170B	0	LGGM	GRCh37	10	50341892	50341892	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	0	2	.	.	ENST00000311787.5:c.72C>A	p.Ser24Arg	p.S24R	ENST00000311787	NM_001164484.1	24	agC/agA	0	1	1	UPI00001C1ED8	0	NA	ENST00000311787		ENSG00000172538	19736		2	1.61		HGNC	p.S24R		FAM170B		SNV							ENST00000311787	protein_coding	getma.org/?cm=var&var=hg19,10,50341892,G,T&fts=all		Low_complexity_(Seg):seg		S/R		T	low	162/1401		getma.org/?cm=msa&ty=f&p=F170B_HUMAN&rb=1&re=200&var=S24R	deleterious(0)				YES	FAM170B,missense_variant,p.Ser24Arg,ENST00000311787,NM_001164484.1;FAM170B-AS1,intron_variant,,ENST00000442525,;FAM170B-AS1,intron_variant,,ENST00000443389,;FAM170B-AS1,intron_variant,,ENST00000435809,;FAM170B-AS1,upstream_gene_variant,,ENST00000440054,;							MODERATE	72/852	S24R	F170B_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000308292		CCDS53536.1			1	
IFITM3	0	LGGM	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	4	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0	1	1	UPI00000465C0	0	NA	ENST00000399808		ENSG00000142089	5414	0.0386	30	0.895		HGNC	p.P70T	rs199749095,COSM42691	IFITM3	0.0776	SNV			1	0.0604		0,1	ENST00000399808	protein_coding	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix		P/T		T	low	445/808	0.0502	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	tolerated(0.45)	E9PS44_HUMAN			YES	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,;	0.0105				0,1		MODERATE	208/402	P70T	IFM3_HUMAN	0.0265		Transcript		benign(0.001)	common_variant	ENSP00000382707	0.0511	CCDS41585.1	0.0547		1	23658454
RYR1	0	LGGM	GRCh37	19	39062838	39062838	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	3	.	.	ENST00000359596.3:c.13926C>A	p.Pro4642=	p.P4642=	ENST00000359596		4642	ccC/ccA	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		27			HGNC	p.P4637P		RYR1		SNV			1				ENST00000355481	protein_coding			Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		P		A		13926/15117				O75591_HUMAN,B4DET7_HUMAN			YES	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.=,ENST00000593677,;							LOW	13926/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
ALG1	0	LGGM	GRCh37	16	5128805	5128805	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000262374.5:c.788G>T	p.Arg263Leu	p.R263L	ENST00000262374	NM_019109.4	263	cGg/cTg	0	1	1	UPI000003B09B	0	NA	ENST00000262374		ENSG00000033011	18294		14	1.25		HGNC	p.R152L		ALG1		SNV			1				ENST00000588623	protein_coding	getma.org/?cm=var&var=hg19,16,5128805,G,T&fts=all		hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0		R/L		T	low	819/1939		getma.org/?cm=msa&ty=f&p=ALG1_HUMAN&rb=201&re=275&var=R263L	tolerated(0.49)	K7EID2_HUMAN,B4DP08_HUMAN			YES	ALG1,missense_variant,p.Arg152Leu,ENST00000588623,;ALG1,missense_variant,p.Arg263Leu,ENST00000262374,NM_019109.4;ALG1,missense_variant,p.Arg152Leu,ENST00000544428,;ALG1,missense_variant,p.Arg152Leu,ENST00000591783,;ALG1,downstream_gene_variant,,ENST00000586840,;ALG1,3_prime_UTR_variant,,ENST00000591822,;RP11-10K17.3,upstream_gene_variant,,ENST00000564330,;							MODERATE	788/1395	R263L	ALG1_HUMAN			Transcript		benign(0.006)	.	ENSP00000262374		CCDS10528.1			1	
ABCC12	0	LGGM	GRCh37	16	48141337	48141337	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	3	.	.	ENST00000311303.3:c.2372-1G>C		p.X791_splice	ENST00000311303	NM_033226.2			0	1	1	UPI0000456987	0		ENST00000311303		ENSG00000140798	14640		35			HGNC	-		ABCC12		SNV							ENST00000311303	protein_coding							G		-/5168				E9PHY2_HUMAN			YES	ABCC12,splice_acceptor_variant,,ENST00000311303,NM_033226.2;ABCC12,splice_acceptor_variant,,ENST00000416054,;ABCC12,splice_acceptor_variant,,ENST00000448542,;ABCC12,splice_acceptor_variant,,ENST00000529084,;ABCC12,splice_acceptor_variant,,ENST00000534418,;ABCC12,splice_acceptor_variant,,ENST00000497206,;ABCC12,splice_acceptor_variant,,ENST00000532494,;ABCC12,splice_acceptor_variant,,ENST00000529504,;ABCC12,downstream_gene_variant,,ENST00000533185,;							HIGH	2372/4080		MRP9_HUMAN			Transcript			.	ENSP00000311030		CCDS10730.1			1	
RNF213	0	LGGM	GRCh37	17	78350699	78350699	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000582970.1:c.13446C>A	p.Thr4482=	p.T4482=	ENST00000582970	NM_001256071.1	4482	acC/acA	0	1	1	UPI0001D3BDB1	0		ENST00000582970		ENSG00000173821	14539		14			HGNC	p.T4531T		RNF213		SNV			1				ENST00000508628	protein_coding			hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		T		A		13589/21055				H3BLU6_HUMAN			YES	RNF213,synonymous_variant,p.=,ENST00000582970,NM_001256071.1;RNF213,synonymous_variant,p.=,ENST00000508628,;RNF213,synonymous_variant,p.=,ENST00000336301,;RNF213,downstream_gene_variant,,ENST00000573038,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,downstream_gene_variant,,ENST00000573394,;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,;							LOW	13446/15624		RN213_HUMAN			Transcript			.	ENSP00000464087		CCDS58606.1			1	
DNAH17	0	LGGM	GRCh37	17	76481084	76481084	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000389840.5:c.7473G>T	p.Ser2491=	p.S2491=	ENST00000389840		2491	tcG/tcT	0	1	1	UPI0001A5EE11	0		ENST00000389840		ENSG00000187775	2946		24			HGNC	p.S2491S		DNAH17		SNV							ENST00000389840	protein_coding			hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		S		A		7598/13792							YES	DNAH17,synonymous_variant,p.=,ENST00000389840,;DNAH17,synonymous_variant,p.=,ENST00000585328,NM_173628.3;RP11-559N14.5,non_coding_transcript_exon_variant,,ENST00000585969,;RP11-559N14.5,non_coding_transcript_exon_variant,,ENST00000588565,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;							LOW	7473/13458		DYH17_HUMAN			Transcript			.	ENSP00000374490					1	
FAM47B	0	LGGM	GRCh37	X	34961920	34961920	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	3	.	.	ENST00000329357.5:c.972C>A	p.Pro324=	p.P324=	ENST00000329357	NM_152631.2	324	ccC/ccA	0	1	1	UPI000013F47B	0		ENST00000329357		ENSG00000189132	26659		28			HGNC	p.P324P		FAM47B		SNV							ENST00000329357	protein_coding			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Pfam_domain:PF14642		P		A		1008/2122							YES	FAM47B,synonymous_variant,p.=,ENST00000329357,NM_152631.2;							LOW	972/1938		FA47B_HUMAN			Transcript			.	ENSP00000328307		CCDS14236.1			1	
NFKB2	0	LGGM	GRCh37	10	104157071	104157071	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	3	.	.	ENST00000369966.3:c.408G>A	p.Leu136=	p.L136=	ENST00000369966	NM_001077494.2	136	ctG/ctA	0	1	1	UPI000016A5CD	0		ENST00000369966		ENSG00000077150	7795		26			HGNC	p.L136L		NFKB2		SNV			1				ENST00000428099	protein_coding			Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR24169:SF19,hmmpanther:PTHR24169,PROSITE_profiles:PS50254		L		A		658/3101				M0R119_HUMAN,M0QZX1_HUMAN			YES	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;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,;							LOW	408/2703		NFKB2_HUMAN			Transcript			.	ENSP00000358983		CCDS41564.1			1	
PNPLA7	0	LGGM	GRCh37	9	140356718	140356718	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000406427.1:c.3558G>T	p.Val1186=	p.V1186=	ENST00000406427	NM_001098537.1	1186	gtG/gtT	0	1		UPI000022D7A4	0		ENST00000277531		ENSG00000130653	24768		16			HGNC	p.V1161V		PNPLA7		SNV							ENST00000277531	protein_coding			hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF23,Superfamily_domains:SSF52151		V		A		3670/4581								PNPLA7,synonymous_variant,p.=,ENST00000406427,NM_001098537.1;PNPLA7,synonymous_variant,p.=,ENST00000277531,NM_152286.3;PNPLA7,synonymous_variant,p.=,ENST00000434090,;PNPLA7,synonymous_variant,p.=,ENST00000371457,;NSMF,upstream_gene_variant,,ENST00000371475,NM_001130969.1;NSMF,upstream_gene_variant,,ENST00000265663,NM_015537.4;NSMF,upstream_gene_variant,,ENST00000437259,NM_001130970.1;NSMF,upstream_gene_variant,,ENST00000392812,;NSMF,upstream_gene_variant,,ENST00000371474,NM_001130971.1;NSMF,upstream_gene_variant,,ENST00000371473,NM_001178064.1;NSMF,upstream_gene_variant,,ENST00000339554,;NSMF,upstream_gene_variant,,ENST00000371472,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000492278,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000469998,;PNPLA7,downstream_gene_variant,,ENST00000487228,;							LOW	3483/3954		PLPL7_HUMAN			Transcript			.	ENSP00000277531		CCDS7045.1			1	
C9orf57	0	LGGM	GRCh37	9	74674223	74674223	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	3	.	.	ENST00000377024.3:c.91G>T	p.Val31Phe	p.V31F	ENST00000377024	NM_001128618.1	31	Gtt/Ttt	0	1	1	UPI0000160595	0	NA	ENST00000377024		ENSG00000204669	27037		31	0		HGNC	p.V31F		C9orf57		SNV							ENST00000377024	protein_coding	getma.org/?cm=var&var=hg19,9,74674223,C,A&fts=all		Transmembrane_helices:TMhelix		V/F		A	neutral	187/1502		getma.org/?cm=msa&ty=f&p=CI057_HUMAN&rb=1&re=50&var=V31F	tolerated_low_confidence(0.17)				YES	C9orf57,missense_variant,p.Val31Phe,ENST00000377024,NM_001128618.1;C9orf57,intron_variant,,ENST00000424431,;							MODERATE	91/486	V31F	CI057_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000366223		CCDS47980.1			1	
THRB	0	LGGM	GRCh37	3	24185128	24185128	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	33	3	.	.	ENST00000396671.2:c.602G>T	p.Arg201Leu	p.R201L	ENST00000396671	NM_001128176.2	201	cGg/cTg	0	1		UPI0000136D26	0	getma.org/pdb.php?prot=THB_HUMAN&from=177&to=256&var=R201L	ENST00000356447		ENSG00000151090	11799		36	1.355		HGNC	p.R201L		THRB		SNV			1				ENST00000356447	protein_coding	getma.org/?cm=var&var=hg19,3,24185128,C,A&fts=all		Gene3D:1.10.565.10,Prints_domain:PR00546,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF210,Low_complexity_(Seg):seg		R/L		A	low	887/6341		getma.org/?cm=msa&ty=f&p=THB_HUMAN&rb=177&re=256&var=R201L	tolerated(0.06)	J3KR21_HUMAN,F1D8N7_HUMAN,C9JZS5_HUMAN,C9JTN1_HUMAN,C9JNQ4_HUMAN,C9JJM3_HUMAN,C9JHC2_HUMAN				THRB,missense_variant,p.Arg201Leu,ENST00000396671,NM_001128176.2;THRB,missense_variant,p.Arg201Leu,ENST00000356447,NM_001128177.1,NM_000461.4;THRB,missense_variant,p.Arg201Leu,ENST00000416420,NM_001252634.1;THRB,missense_variant,p.Arg216Leu,ENST00000280696,;THRB,downstream_gene_variant,,ENST00000413780,;							MODERATE	602/1386	R201L	THB_HUMAN			Transcript		benign(0.016)	.	ENSP00000348827		CCDS2641.1			1	
RPN2	0	LGGM	GRCh37	20	35812734	35812734	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000237530.6:c.165C>A	p.Ile55=	p.I55=	ENST00000237530	NM_002951.3	55	atC/atA	0	1	1	UPI0000000C52	0		ENST00000237530		ENSG00000118705	10382		20			HGNC	p.I55I		RPN2		SNV							ENST00000373622	protein_coding			Pfam_domain:PF05817,hmmpanther:PTHR12640,hmmpanther:PTHR12640:SF0		I		A		476/2511							YES	RPN2,synonymous_variant,p.=,ENST00000237530,NM_002951.3;RPN2,synonymous_variant,p.=,ENST00000373622,NM_001135771.1;RPN2,synonymous_variant,p.=,ENST00000373632,;RPN2,5_prime_UTR_variant,,ENST00000456102,;MROH8,upstream_gene_variant,,ENST00000343811,NM_152503.4;MROH8,upstream_gene_variant,,ENST00000400441,;MROH8,upstream_gene_variant,,ENST00000441008,;MROH8,upstream_gene_variant,,ENST00000400440,NM_213631.1;MROH8,upstream_gene_variant,,ENST00000421643,NM_213632.1;MROH8,upstream_gene_variant,,ENST00000434295,;RPN2,5_prime_UTR_variant,,ENST00000462163,;							LOW	165/1896		RPN2_HUMAN			Transcript			.	ENSP00000237530		CCDS13291.1			1	
THAP7	0	LGGM	GRCh37	22	21355614	21355614	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	3	.	.	ENST00000215742.4:c.167C>A	p.Pro56Gln	p.P56Q	ENST00000215742	NM_030573.2	56	cCg/cAg	0	1	1	UPI00001AE5D8	0	getma.org/pdb.php?prot=THAP7_HUMAN&from=3&to=99&var=P56Q	ENST00000215742		ENSG00000184436	23190		28	2.605		HGNC	p.P56Q		THAP7		SNV							ENST00000215742	protein_coding	getma.org/?cm=var&var=hg19,22,21355614,G,T&fts=all		PROSITE_profiles:PS50950,hmmpanther:PTHR23080:SF14,hmmpanther:PTHR23080,Pfam_domain:PF05485,SMART_domains:SM00980,SMART_domains:SM00692,Superfamily_domains:SSF57716		P/Q		T	medium	342/1213		getma.org/?cm=msa&ty=f&p=THAP7_HUMAN&rb=3&re=99&var=P56Q	deleterious(0)				YES	THAP7,missense_variant,p.Pro56Gln,ENST00000215742,NM_030573.2;THAP7,missense_variant,p.Pro56Gln,ENST00000399133,NM_001008695.1;LZTR1,downstream_gene_variant,,ENST00000215739,NM_006767.3;LZTR1,downstream_gene_variant,,ENST00000389355,;LZTR1,downstream_gene_variant,,ENST00000415817,;AC002472.1,downstream_gene_variant,,ENST00000547793,;THAP7-AS1,upstream_gene_variant,,ENST00000452284,;THAP7-AS1,upstream_gene_variant,,ENST00000436079,;THAP7-AS1,upstream_gene_variant,,ENST00000429962,;LZTR1,downstream_gene_variant,,ENST00000479606,;THAP7,non_coding_transcript_exon_variant,,ENST00000498406,;THAP7,non_coding_transcript_exon_variant,,ENST00000471073,;THAP7,non_coding_transcript_exon_variant,,ENST00000476667,;THAP7,non_coding_transcript_exon_variant,,ENST00000466670,;THAP7,non_coding_transcript_exon_variant,,ENST00000471723,;THAP7,non_coding_transcript_exon_variant,,ENST00000488975,;LZTR1,downstream_gene_variant,,ENST00000463909,;LZTR1,downstream_gene_variant,,ENST00000498649,;LZTR1,downstream_gene_variant,,ENST00000452988,;LZTR1,downstream_gene_variant,,ENST00000439171,;TUBA3FP,downstream_gene_variant,,ENST00000442739,;							MODERATE	167/930	P56Q	THAP7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000215742		CCDS13787.1			1	
POC1B-GALNT4	0	LGGM	GRCh37	12	89917185	89917185	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	3	.	.	ENST00000529983.2:c.1142G>T	p.Arg381Leu	p.R381L	ENST00000529983	NM_003774.4	381	cGg/cTg	0	1	1	UPI0000228FE1	0	getma.org/pdb.php?prot=GALT4_HUMAN&from=322&to=443&var=R381L	ENST00000548729		ENSG00000259075	42957		34	4.33		HGNC	p.R381L		POC1B-GALNT4		SNV							ENST00000529983	protein_coding	getma.org/?cm=var&var=hg19,12,89917185,C,A&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF7,Superfamily_domains:SSF53448		R/L		A	high	1436/5436		getma.org/?cm=msa&ty=f&p=GALT4_HUMAN&rb=322&re=443&var=R381L	deleterious(0)	F8VUJ3_HUMAN			YES	POC1B-GALNT4,missense_variant,p.Arg378Leu,ENST00000548729,NM_001199781.1,NM_001199782.1;GALNT4,missense_variant,p.Arg381Leu,ENST00000529983,NM_003774.4;GALNT4,missense_variant,p.Arg209Leu,ENST00000413530,;POC1B-GALNT4,3_prime_UTR_variant,,ENST00000547474,;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000313546,NM_172240.2;POC1B,intron_variant,,ENST00000549035,NM_001199777.1;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000549504,;RP11-734K2.4,upstream_gene_variant,,ENST00000605233,;POC1B,intron_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000547496,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000546830,;POC1B,intron_variant,,ENST00000547274,;							MODERATE	1133/1728	R381L				Transcript		probably_damaging(0.999)	.	ENSP00000447852		CCDS55860.1			1	
BLACE	0	LGGM	GRCh37	7	155150442	155150442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	3	.	.	ENST00000378120.5:c.433G>T	p.Gly145Cys	p.G145C	ENST00000378120		145	Ggt/Tgt	0	1	1	UPI00002522B3	0		ENST00000378120		ENSG00000204960	20484		35			HGNC	p.G145C		BLACE		SNV							ENST00000378120	protein_coding					G/C		A		1694/2456							YES	BLACE,missense_variant,p.Gly145Cys,ENST00000378120,;							MODERATE	433/540		BLACE_HUMAN			Transcript		unknown(0)	.	ENSP00000367360					1	
MUC16	0	LGGM	GRCh37	19	8959693	8959693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000397910.4:c.43439G>T	p.Arg14480Leu	p.R14480L	ENST00000397910	NM_024690.2	14480	cGg/cTg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		16	0.64		HGNC	p.R1121L	rs201721114	MUC16		SNV	A:0						ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8959693,C,A&fts=all	T:0.0008	hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		R/L	A:0.0002	A	neutral	43643/43816	1.64E-05	getma.org/?cm=msa&ty=f&p=B5ME49_HUMAN&rb=14289&re=14488&var=R14480L		F8WE81_HUMAN,B5ME49_HUMAN	T:0	T:0	YES	MUC16,missense_variant,p.Arg14480Leu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Arg1303Leu,ENST00000599436,;MUC16,missense_variant,p.Arg1121Leu,ENST00000380951,;MUC16,3_prime_UTR_variant,,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;		T:0.0002					MODERATE	43439/43524	R14480L			T:0	Transcript		benign(0.166)	.	ENSP00000381008	1.65E-05	CCDS54212.1		T:0	1	
RTKN	0	LGGM	GRCh37	2	74655454	74655454	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	3	.	.	ENST00000272430.5:c.1027C>A	p.Arg343=	p.R343=	ENST00000272430	NM_001015055.1	343	Cgg/Agg	0	1	1	UPI0000031F56	0		ENST00000272430		ENSG00000114993	10466		40			HGNC	p.R293R		RTKN		SNV							ENST00000233330	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR21538,hmmpanther:PTHR21538:SF19,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R		T		1110/2142							YES	RTKN,synonymous_variant,p.=,ENST00000305557,NM_033046.2;RTKN,synonymous_variant,p.=,ENST00000233330,NM_001015056.1;RTKN,synonymous_variant,p.=,ENST00000272430,NM_001015055.1;WDR54,downstream_gene_variant,,ENST00000348227,NM_032118.2;WDR54,downstream_gene_variant,,ENST00000409791,;WDR54,downstream_gene_variant,,ENST00000426787,;WDR54,downstream_gene_variant,,ENST00000461531,;WDR54,downstream_gene_variant,,ENST00000469321,;RTKN,downstream_gene_variant,,ENST00000484453,;RTKN,downstream_gene_variant,,ENST00000479256,;WDR54,downstream_gene_variant,,ENST00000468778,;WDR54,downstream_gene_variant,,ENST00000465134,;RTKN,downstream_gene_variant,,ENST00000464094,;RTKN,downstream_gene_variant,,ENST00000472518,;WDR54,downstream_gene_variant,,ENST00000480089,;WDR54,downstream_gene_variant,,ENST00000482880,;RTKN,upstream_gene_variant,,ENST00000492013,;RTKN,downstream_gene_variant,,ENST00000460968,;WDR54,downstream_gene_variant,,ENST00000482605,;WDR54,downstream_gene_variant,,ENST00000493982,;RTKN,downstream_gene_variant,,ENST00000469859,;							LOW	1027/1692		RTKN_HUMAN			Transcript			.	ENSP00000272430		CCDS33226.1			1	
RIPK3	0	LGGM	GRCh37	14	24807716	24807716	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	3	.	.	ENST00000216274.5:c.529G>T	p.Gly177Trp	p.G177W	ENST00000216274	NM_006871.3	177	Ggg/Tgg	0	1	1	UPI00000369E2	0	getma.org/pdb.php?prot=RIPK3_HUMAN&from=21&to=283&var=G177W	ENST00000216274		ENSG00000129465	10021		26	2.91		HGNC	p.G177W		RIPK3		SNV							ENST00000216274	protein_coding	getma.org/?cm=var&var=hg19,14,24807716,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF346,Low_complexity_(Seg):seg,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/W		A	medium	748/1930		getma.org/?cm=msa&ty=f&p=RIPK3_HUMAN&rb=21&re=283&var=G177W	deleterious(0.01)				YES	RIPK3,missense_variant,p.Gly177Trp,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,;ADCY4,upstream_gene_variant,,ENST00000558563,;RIPK3,downstream_gene_variant,,ENST00000554338,;ADCY4,upstream_gene_variant,,ENST00000558125,;RIPK3,missense_variant,p.Gly177Trp,ENST00000554756,;RIPK3,non_coding_transcript_exon_variant,,ENST00000557624,;ADCY4,upstream_gene_variant,,ENST00000557056,;ADCY4,upstream_gene_variant,,ENST00000554781,;ADCY4,upstream_gene_variant,,ENST00000557099,;RIPK3,downstream_gene_variant,,ENST00000557253,;RIPK3,downstream_gene_variant,,ENST00000557662,;							MODERATE	529/1557	G177W	RIPK3_HUMAN			Transcript		benign(0.041)	.	ENSP00000216274		CCDS9628.1			1	
EP400	0	LGGM	GRCh37	12	132497715	132497715	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	3	.	.	ENST00000389561.2:c.3603C>A	p.Thr1201=	p.T1201=	ENST00000389561	NM_015409.4	1201	acC/acA	0	1	1	UPI00004566BC	0		ENST00000389561		ENSG00000183495	11958		9			HGNC	p.T1200T		EP400		SNV							ENST00000389562	protein_coding			PROSITE_profiles:PS51192,hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540		T		A		3712/12268							YES	EP400,synonymous_variant,p.=,ENST00000333577,;EP400,synonymous_variant,p.=,ENST00000389561,NM_015409.4;EP400,synonymous_variant,p.=,ENST00000389562,;EP400,synonymous_variant,p.=,ENST00000332482,;EP400,synonymous_variant,p.=,ENST00000330386,;							LOW	3603/9372		EP400_HUMAN			Transcript			.	ENSP00000374212		CCDS31929.2			1	
TCEB3	0	LGGM	GRCh37	1	24082450	24082450	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000418390.2:c.1987C>A	p.Arg663=	p.R663=	ENST00000418390	NM_003198.2	663	Cga/Aga	0	1	1	UPI000181BA17	0		ENST00000418390		ENSG00000011007	11620		24			HGNC	p.R663R		TCEB3		SNV							ENST00000418390	protein_coding			hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141,Pfam_domain:PF06881		R		A		2258/5154							YES	TCEB3,synonymous_variant,p.=,ENST00000418390,NM_003198.2;TCEB3,synonymous_variant,p.=,ENST00000609199,;RP5-886K2.3,downstream_gene_variant,,ENST00000427796,;							LOW	1987/2397		ELOA1_HUMAN			Transcript			.	ENSP00000395574		CCDS239.2			1	
ANGEL2	0	LGGM	GRCh37	1	213174229	213174229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	3	.	.	ENST00000366962.3:c.1160G>T	p.Arg387Leu	p.R387L	ENST00000366962	NM_144567.3	387	cGg/cTg	0	1	1	UPI00001D3EF4	0	NA	ENST00000366962		ENSG00000174606	30534		27	2.14		HGNC	p.R387L		ANGEL2		SNV							ENST00000366962	protein_coding	getma.org/?cm=var&var=hg19,1,213174229,C,A&fts=all		Pfam_domain:PF03372,hmmpanther:PTHR12121:SF27,hmmpanther:PTHR12121		R/L		A	medium	1315/4649		getma.org/?cm=msa&ty=f&p=ANGE2_HUMAN&rb=170&re=533&var=R387L	deleterious(0.03)				YES	ANGEL2,missense_variant,p.Arg387Leu,ENST00000366962,NM_144567.3;ANGEL2,missense_variant,p.Arg218Leu,ENST00000360506,;ANGEL2,missense_variant,p.Arg218Leu,ENST00000544555,;ANGEL2,missense_variant,p.Arg261Leu,ENST00000540642,;ANGEL2,intron_variant,,ENST00000535388,;ANGEL2,non_coding_transcript_exon_variant,,ENST00000473303,;ANGEL2,downstream_gene_variant,,ENST00000476904,;ANGEL2,upstream_gene_variant,,ENST00000498650,;							MODERATE	1160/1635	R387L	ANGE2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000355929		CCDS1512.1			1	
FCGBP	0	LGGM	GRCh37	19	40419726	40419726	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	30	3	.	.	ENST00000221347.6:c.3268G>T	p.Asp1090Tyr	p.D1090Y	ENST00000221347	NM_003890.2	1090	Gac/Tac	0	1	1	UPI00001B0455	0	NA	ENST00000221347		ENSG00000090920	13572		33	2.86		HGNC	p.D1090Y		FCGBP		SNV							ENST00000221347	protein_coding	getma.org/?cm=var&var=hg19,19,40419726,C,A&fts=all		hmmpanther:PTHR11339:SF244,hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832		D/Y		A	medium	3276/16390		getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=1058&re=1133&var=D1090Y					YES	FCGBP,missense_variant,p.Asp1090Tyr,ENST00000221347,NM_003890.2;							MODERATE	3268/16218	D1090Y	FCGBP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000221347		CCDS12546.1			1	
PURG	0	LGGM	GRCh37	8	30854142	30854142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000339382.2:c.936G>T	p.Gln312His	p.Q312H	ENST00000339382	NM_001015508.1	312	caG/caT	0	1	1	UPI0000071144	0		ENST00000339382		ENSG00000172733	17930		24			HGNC	p.Q312H		PURG		SNV							ENST00000339382	protein_coding			SMART_domains:SM00712		Q/H		A		1869/2690			tolerated_low_confidence(0.06)	K7ENC1_HUMAN				PURG,missense_variant,p.Gln312His,ENST00000339382,NM_001015508.1;							MODERATE	936/969		PURG_HUMAN			Transcript		benign(0.264)	.	ENSP00000345168		CCDS34878.1			1	
TRRAP	0	LGGM	GRCh37	7	98563409	98563409	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000359863.4:c.7046C>A	p.Ala2349Asp	p.A2349D	ENST00000359863	NM_001244580.1	2349	gCc/gAc	0	1	1	UPI00004575B4	0	NA	ENST00000359863		ENSG00000196367	12347		16	0.695		HGNC	p.A2331D		TRRAP		SNV							ENST00000355540	protein_coding	getma.org/?cm=var&var=hg19,7,98563409,C,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Superfamily_domains:SSF48371		A/D		A	neutral	7255/12677		getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=2201&re=2400&var=A2349D		C9K0N1_HUMAN			YES	TRRAP,missense_variant,p.Ala2349Asp,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Ala2331Asp,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Ala2331Asp,ENST00000446306,;TRRAP,missense_variant,p.Ala2071Asp,ENST00000456197,;							MODERATE	7046/11580	A2349D	TRRAP_HUMAN			Transcript		benign(0.045)	.	ENSP00000352925		CCDS59066.1			1	
POM121	0	LGGM	GRCh37	7	72413640	72413640	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000395270.1:c.2313G>T	p.Ser771=	p.S771=	ENST00000395270	NM_001257190.2	771	tcG/tcT	0	1		UPI00017BE7A5	0		ENST00000434423		ENSG00000196313	19702		18			HGNC	p.S771S		POM121		SNV							ENST00000395270	protein_coding			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5		S		T		3108/3750				A8MY32_HUMAN				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,;							LOW	3108/3750		P121A_HUMAN			Transcript			.	ENSP00000405562					1	
SYN3	0	LGGM	GRCh37	22	32992666	32992666	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	3	.	.	ENST00000358763.2:c.768G>T	p.Met256Ile	p.M256I	ENST00000358763	NM_001135774.1	256	atG/atT	0	1	1	UPI00001365D3	0	getma.org/pdb.php?prot=SYN3_HUMAN&from=193&to=395&var=M256I	ENST00000358763		ENSG00000185666	11496		11	1.87		HGNC	p.M256I		SYN3		SNV							ENST00000358763	protein_coding	getma.org/?cm=var&var=hg19,22,32992666,C,A&fts=all		hmmpanther:PTHR10841,PROSITE_patterns:PS00416,Gene3D:3.30.1490.20,Pfam_domain:PF02750,Superfamily_domains:SSF56059		M/I		A	low	1011/3126		getma.org/?cm=msa&ty=f&p=SYN3_HUMAN&rb=193&re=395&var=M256I	deleterious(0.05)	Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN			YES	SYN3,missense_variant,p.Met256Ile,ENST00000358763,NM_001135774.1;SYN3,missense_variant,p.Met256Ile,ENST00000332840,NM_003490.3,NM_133633.2;							MODERATE	768/1743	M256I	SYN3_HUMAN			Transcript		unknown(0)	.	ENSP00000351614		CCDS13908.1			1	
NF1	0	LGGM	GRCh37	17	29559809	29559809	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	3	.	.	ENST00000358273.4:c.3406C>A	p.Arg1136=	p.R1136=	ENST00000358273	NM_001042492.2	1136	Cgg/Agg	0	1	1	UPI000012FFAE	0		ENST00000358273		ENSG00000196712	7765		31			HGNC	p.R802R		NF1		SNV			1				ENST00000456735	protein_coding			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		R		A		3789/12425				Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	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,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000466819,;NF1,upstream_gene_variant,,ENST00000479614,;							LOW	3406/8520		NF1_HUMAN			Transcript			.	ENSP00000351015		CCDS42292.1			1	
IGHM	0	LGGM	GRCh37	14	106321115	106321115	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	3	.	.	ENST00000390559.2:c.874G>T	p.Glu292Ter	p.E292*	ENST00000390559		292	Gag/Tag	0	1	1	UPI000173A6A1	0		ENST00000390559		ENSG00000211899	5541		11			HGNC	p.E292X		IGHM		SNV			1				ENST00000390559	IG_C_gene			Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,PROSITE_profiles:PS50835		E/*		A		874/1461				Q86TT1_HUMAN			YES	IGHM,stop_gained,p.Glu292Ter,ENST00000390559,;AL122127.1,downstream_gene_variant,,ENST00000581354,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.4,downstream_gene_variant,,ENST00000581720,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;AL122127.3,downstream_gene_variant,,ENST00000580379,;AL122127.5,downstream_gene_variant,,ENST00000582202,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.2,downstream_gene_variant,,ENST00000581918,;							HIGH	874/1362					Transcript			.	ENSP00000375001					1	
AKAP4	0	LGGM	GRCh37	X	49958369	49958369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000358526.2:c.995G>T	p.Gly332Val	p.G332V	ENST00000358526	NM_003886.2	332	gGg/gTg	0	1	1	UPI000013DA96	0	NA	ENST00000358526		ENSG00000147081	374		12	2.36		HGNC	p.G323V		AKAP4		SNV							ENST00000376064	protein_coding	getma.org/?cm=var&var=hg19,X,49958369,C,A&fts=all		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807		G/V		A	medium	1119/2881		getma.org/?cm=msa&ty=f&p=AKAP4_HUMAN&rb=230&re=854&var=G332V	deleterious(0.03)				YES	AKAP4,missense_variant,p.Gly323Val,ENST00000376056,;AKAP4,missense_variant,p.Gly332Val,ENST00000358526,NM_003886.2;AKAP4,missense_variant,p.Gly323Val,ENST00000376064,NM_139289.1;AKAP4,intron_variant,,ENST00000376058,;AKAP4,intron_variant,,ENST00000448865,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;							MODERATE	995/2565	G332V	AKAP4_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000351327		CCDS14329.1			1	
DTX1	0	LGGM	GRCh37	12	113515393	113515393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000257600.3:c.424C>A	p.Leu142Ile	p.L142I	ENST00000257600	NM_004416.2	142	Ctc/Atc	0	1	1	UPI000013CF71	0	getma.org/pdb.php?prot=DTX1_HUMAN&from=100&to=171&var=L142I	ENST00000257600		ENSG00000135144	3060		14	1.545		HGNC	p.L142I	rs749361573	DTX1		SNV							ENST00000257600	protein_coding	getma.org/?cm=var&var=hg19,12,113515393,C,A&fts=all		PROSITE_profiles:PS50918,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF7,Pfam_domain:PF02825,SMART_domains:SM00678,Superfamily_domains:SSF117839		L/I		A	low	927/3455	1.52E-05	getma.org/?cm=msa&ty=f&p=DTX1_HUMAN&rb=100&re=171&var=L142I	deleterious(0.02)				YES	DTX1,missense_variant,p.Leu142Ile,ENST00000257600,NM_004416.2;							MODERATE	424/1863	L142I	DTX1_HUMAN			Transcript		benign(0.036)	.	ENSP00000257600	8.24E-06	CCDS9164.1			1	
TLL2	0	LGGM	GRCh37	10	98170154	98170154	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000357947.3:c.1126C>A	p.His376Asn	p.H376N	ENST00000357947	NM_012465.3	376	Cac/Aac	0	1	1	UPI0000073AEE	0	getma.org/pdb.php?prot=TLL2_HUMAN&from=351&to=460&var=H376N	ENST00000357947		ENSG00000095587	11844		14	0.385		HGNC	p.H376N	COSM1506340	TLL2		SNV						1	ENST00000357947	protein_coding	getma.org/?cm=var&var=hg19,10,98170154,G,T&fts=all		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		H/N		T	neutral	1352/6756		getma.org/?cm=msa&ty=f&p=TLL2_HUMAN&rb=351&re=460&var=H376N	tolerated(0.07)				YES	TLL2,missense_variant,p.His376Asn,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;					1		MODERATE	1126/3048	H376N	TLL2_HUMAN			Transcript		benign(0.301)	.	ENSP00000350630		CCDS7449.1			1	
PON1	0	LGGM	GRCh37	7	94937331	94937331	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	3	.	.	ENST00000222381.3:c.690C>A	p.Pro230=	p.P230=	ENST00000222381	NM_000446.5	230	ccC/ccA	0	1	1	UPI000013C7FD	0		ENST00000222381		ENSG00000005421	9204		37			HGNC	p.P230P		PON1		SNV			1				ENST00000542556	protein_coding			hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF3,Gene3D:2.120.10.30,Pfam_domain:PF01731,Superfamily_domains:SSF63829		P		T		922/2568							YES	PON1,synonymous_variant,p.=,ENST00000222381,NM_000446.5;PON1,synonymous_variant,p.=,ENST00000542556,;PON1,3_prime_UTR_variant,,ENST00000433729,;PON1,downstream_gene_variant,,ENST00000470502,;							LOW	690/1068		PON1_HUMAN			Transcript			.	ENSP00000222381		CCDS5638.1			1	
KRI1	0	LGGM	GRCh37	19	10670095	10670095	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000312962.6:c.1152C>A	p.Gly384=	p.G384=	ENST00000312962	NM_023008.3	384	ggC/ggA	0	1	1	UPI0000246DCC	0		ENST00000312962		ENSG00000129347	25769		12			HGNC	p.G380G		KRI1		SNV							ENST00000361821	protein_coding			Pfam_domain:PF05178,hmmpanther:PTHR14490,Low_complexity_(Seg):seg		G		T		1172/3016							YES	KRI1,synonymous_variant,p.=,ENST00000312962,NM_023008.3;KRI1,synonymous_variant,p.=,ENST00000361821,;KRI1,intron_variant,,ENST00000539027,;KRI1,downstream_gene_variant,,ENST00000543682,;KRI1,downstream_gene_variant,,ENST00000537964,;KRI1,non_coding_transcript_exon_variant,,ENST00000536689,;KRI1,non_coding_transcript_exon_variant,,ENST00000478863,;KRI1,non_coding_transcript_exon_variant,,ENST00000537363,;KRI1,non_coding_transcript_exon_variant,,ENST00000536714,;KRI1,non_coding_transcript_exon_variant,,ENST00000537433,;KRI1,downstream_gene_variant,,ENST00000432197,;KRI1,downstream_gene_variant,,ENST00000546063,;KRI1,upstream_gene_variant,,ENST00000543842,;KRI1,downstream_gene_variant,,ENST00000544397,;							LOW	1152/2130		KRI1_HUMAN			Transcript			.	ENSP00000320917		CCDS12242.1			1	
FGFR2	0	LGGM	GRCh37	10	123279642	123279642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	3	.	.	ENST00000358487.5:c.790G>T	p.Ala264Ser	p.A264S	ENST00000358487	NM_000141.4	264	Gca/Tca	0	1		UPI000012A72A	0	getma.org/pdb.php?prot=FGFR2_HUMAN&from=260&to=359&var=A264S	ENST00000358487		ENSG00000066468	3689		11	0.525		HGNC	p.A149S		FGFR2		SNV			1				ENST00000369059	protein_coding	getma.org/?cm=var&var=hg19,10,123279642,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF130,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF48726		A/S		A	neutral	1063/4255		getma.org/?cm=msa&ty=f&p=FGFR2_HUMAN&rb=260&re=359&var=A264S	deleterious(0.04)	Q9UMA9_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN				FGFR2,missense_variant,p.Ala264Ser,ENST00000358487,NM_000141.4;FGFR2,missense_variant,p.Ala36Ser,ENST00000478859,;FGFR2,missense_variant,p.Ala175Ser,ENST00000357555,NM_023029.2,NM_001144915.1;FGFR2,missense_variant,p.Ala149Ser,ENST00000356226,NM_001144918.1,NM_001144916.1;FGFR2,missense_variant,p.Ala264Ser,ENST00000369060,NM_001144917.1;FGFR2,missense_variant,p.Ala264Ser,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Ala264Ser,ENST00000351936,;FGFR2,missense_variant,p.Ala149Ser,ENST00000369059,;FGFR2,missense_variant,p.Ala175Ser,ENST00000360144,NM_001144919.1;FGFR2,missense_variant,p.Ala264Ser,ENST00000369058,;FGFR2,missense_variant,p.Ala264Ser,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Ala175Ser,ENST00000336553,;FGFR2,missense_variant,p.Ala264Ser,ENST00000346997,;FGFR2,intron_variant,,ENST00000369061,NM_001144914.1;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,upstream_gene_variant,,ENST00000463870,;FGFR2,missense_variant,p.Ala149Ser,ENST00000604236,;							MODERATE	790/2466	A264S	FGFR2_HUMAN			Transcript		possibly_damaging(0.626)	.	ENSP00000351276		CCDS31298.1			1	
GBF1	0	LGGM	GRCh37	10	104129511	104129511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	19	3	.	.	ENST00000369983.3:c.3191G>T	p.Arg1064Leu	p.R1064L	ENST00000369983	NM_004193.2	1064	cGg/cTg	0	1	1	UPI000012B228	0	NA	ENST00000369983		ENSG00000107862	4181		22	1.74		HGNC	p.R1064L	rs377576744	GBF1		SNV							ENST00000369983	protein_coding	getma.org/?cm=var&var=hg19,10,104129511,G,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138		R/L		T	low	3451/6403	1.50E-05	getma.org/?cm=msa&ty=f&p=GBF1_HUMAN&rb=885&re=1084&var=R1064L	tolerated(0.18)	Q149P0_HUMAN			YES	GBF1,missense_variant,p.Arg1064Leu,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;							MODERATE	3191/5580	R1064L	GBF1_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000359000	8.24E-06	CCDS7533.1			1	
EPHB3	0	LGGM	GRCh37	3	184294688	184294688	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000330394.2:c.1071C>A	p.Leu357=	p.L357=	ENST00000330394	NM_004443.3	357	ctC/ctA	0	1	1	UPI0000161C94	0		ENST00000330394		ENSG00000182580	3394		23			HGNC	p.L357L		EPHB3		SNV							ENST00000330394	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,SMART_domains:SM00060,Superfamily_domains:SSF49265		L		A		1523/4236				D3DNT9_HUMAN			YES	EPHB3,synonymous_variant,p.=,ENST00000330394,NM_004443.3;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,upstream_gene_variant,,ENST00000473079,;EPHB3,upstream_gene_variant,,ENST00000482987,;							LOW	1071/2997		EPHB3_HUMAN			Transcript			.	ENSP00000332118		CCDS3268.1			1	
FAM129C	0	LGGM	GRCh37	19	17653098	17653098	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	3	.	.	ENST00000335393.4:c.1417C>G	p.Gln473Glu	p.Q473E	ENST00000335393	NM_173544.4	473	Cag/Gag	0	1	1	UPI0000246FFF	0	NA	ENST00000335393		ENSG00000167483	24130		17	2.38		HGNC	p.Q473E		FAM129C		SNV							ENST00000300971	protein_coding	getma.org/?cm=var&var=hg19,19,17653098,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4		Q/E		G	medium	1555/2508		getma.org/?cm=msa&ty=f&p=NIBL2_HUMAN&rb=1&re=619&var=Q473E	deleterious(0)	M0R0E0_HUMAN,B4DNU3_HUMAN			YES	FAM129C,missense_variant,p.Gln473Glu,ENST00000335393,NM_173544.4;FAM129C,missense_variant,p.Gln473Glu,ENST00000595684,;FAM129C,missense_variant,p.Gln473Glu,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Gln442Glu,ENST00000601861,;FAM129C,missense_variant,p.Gln473Glu,ENST00000352727,;FAM129C,missense_variant,p.Gln442Glu,ENST00000599164,;FAM129C,missense_variant,p.Gln199Glu,ENST00000449408,;FAM129C,missense_variant,p.Gln473Glu,ENST00000300971,;FAM129C,missense_variant,p.Gln442Glu,ENST00000599124,;FAM129C,missense_variant,p.Gln419Glu,ENST00000600871,;FAM129C,downstream_gene_variant,,ENST00000597887,;FAM129C,missense_variant,p.Gln442Glu,ENST00000600519,;FAM129C,non_coding_transcript_exon_variant,,ENST00000595601,;FAM129C,downstream_gene_variant,,ENST00000599819,;							MODERATE	1417/2094	Q473E	NIBL2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000335040		CCDS12362.1			1	
C17orf70	0	LGGM	GRCh37	17	79517359	79517359	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000327787.8:c.1161G>T	p.Pro387=	p.P387=	ENST00000327787		387	ccG/ccT	0	1	1	UPI0001C53D21	0		ENST00000327787		ENSG00000185504	26171		20			HGNC	p.P236P		C17orf70		SNV							ENST00000537152	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14890,hmmpanther:PTHR14890:SF1		P		A		1208/3627				J3KQD8_HUMAN,F5H095_HUMAN,F5GZS4_HUMAN			YES	C17orf70,synonymous_variant,p.=,ENST00000537152,NM_025161.5;C17orf70,synonymous_variant,p.=,ENST00000327787,;C17orf70,synonymous_variant,p.=,ENST00000541246,;C17orf70,synonymous_variant,p.=,ENST00000544302,;C17orf70,upstream_gene_variant,,ENST00000425898,;C17orf70,downstream_gene_variant,,ENST00000536161,;C17orf70,3_prime_UTR_variant,,ENST00000443656,;C17orf70,upstream_gene_variant,,ENST00000545865,;							LOW	1161/2646		FP100_HUMAN			Transcript			.	ENSP00000333283		CCDS32765.2			1	
PAGE3	0	LGGM	GRCh37	X	55284945	55284945	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000519203.1:c.336G>T	p.Ser112=	p.S112=	ENST00000519203		112	tcG/tcT	0	1		UPI0000161132	0		ENST00000374951		ENSG00000204279	4110		23			HGNC	p.S112S		PAGE3		SNV							ENST00000519203	protein_coding			hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF1,Pfam_domain:PF05831		S		A		645/742								PAGE3,synonymous_variant,p.=,ENST00000374951,;PAGE3,synonymous_variant,p.=,ENST00000519203,;							LOW	336/342		PAGE3_HUMAN			Transcript			.	ENSP00000364089					1	
RSBN1	0	LGGM	GRCh37	1	114320384	114320384	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	3	.	.	ENST00000261441.5:c.1424G>T	p.Arg475Leu	p.R475L	ENST00000261441	NM_018364.3	475	cGg/cTg	0	1	1	UPI00002263B4	0	NA	ENST00000261441		ENSG00000081019	25642		39	0.805		HGNC	p.R475L		RSBN1		SNV							ENST00000261441	protein_coding	getma.org/?cm=var&var=hg19,1,114320384,C,A&fts=all		hmmpanther:PTHR13354,hmmpanther:PTHR13354:SF8		R/L		A	low	1488/6621		getma.org/?cm=msa&ty=f&p=RSBN1_HUMAN&rb=401&re=600&var=R475L	tolerated(0.1)				YES	RSBN1,missense_variant,p.Arg475Leu,ENST00000261441,NM_018364.3;RSBN1,3_prime_UTR_variant,,ENST00000476412,;							MODERATE	1424/2409	R475L	RSBN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261441		CCDS862.1			1	
ATAD3B	0	LGGM	GRCh37	1	1417969	1417969	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000308647.7:c.725C>A	p.Thr242Lys	p.T242K	ENST00000308647	NM_031921.4	242	aCa/aAa	0	1	1	UPI000013E044	0	NA	ENST00000308647		ENSG00000160072	24007		16	2.485		HGNC	p.T242K		ATAD3B		SNV							ENST00000308647	protein_coding	getma.org/?cm=var&var=hg19,1,1417969,C,A&fts=all		Pfam_domain:PF12037,hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF2		T/K		A	medium	841/2448		getma.org/?cm=msa&ty=f&p=ATD3B_HUMAN&rb=21&re=286&var=T242K	tolerated(0.05)	Q9H834_HUMAN			YES	ATAD3B,missense_variant,p.Thr242Lys,ENST00000308647,NM_031921.4;ATAD3B,missense_variant,p.Thr74Lys,ENST00000378741,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000378736,;ATAD3B,non_coding_transcript_exon_variant,,ENST00000472194,;ATAD3B,upstream_gene_variant,,ENST00000474481,;ATAD3B,upstream_gene_variant,,ENST00000485748,;							MODERATE	725/1947	T242K	ATD3B_HUMAN			Transcript		benign(0.213)	.	ENSP00000311766		CCDS30.1			1	
CCDC13	0	LGGM	GRCh37	3	42781158	42781158	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	3	.	.	ENST00000310232.6:c.1132C>A	p.Arg378=	p.R378=	ENST00000310232	NM_144719.3	378	Cgg/Agg	0	1	1	UPI00001AEF4E	0		ENST00000310232		ENSG00000244607	26358		37			HGNC	p.R378R	rs756534911	CCDC13		SNV				9.61E-05			ENST00000310232	protein_coding			hmmpanther:PTHR31935,hmmpanther:PTHR31935:SF1		R		T		1216/2943	1.50E-05						YES	CCDC13,synonymous_variant,p.=,ENST00000310232,NM_144719.3;CCDC13-AS1,intron_variant,,ENST00000418161,;CCDC13-AS1,intron_variant,,ENST00000446950,;							LOW	1132/2148		CCD13_HUMAN			Transcript			.	ENSP00000309836	1.65E-05	CCDS2705.1			1	
SLC24A4	0	LGGM	GRCh37	14	92920275	92920275	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	12	3	.	.	ENST00000532405.1:c.912C>A	p.Pro304=	p.P304=	ENST00000532405		304	ccC/ccA	0	1	1	UPI000044C5DE	0		ENST00000532405		ENSG00000140090	10978		15			HGNC	p.P240P		SLC24A4		SNV			1				ENST00000393265	protein_coding			hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF21,TIGRFAM_domain:TIGR00367		P		A		1138/4718				G3V505_HUMAN,B4DHR5_HUMAN			YES	SLC24A4,synonymous_variant,p.=,ENST00000532405,;SLC24A4,synonymous_variant,p.=,ENST00000531433,NM_153647.3;SLC24A4,synonymous_variant,p.=,ENST00000298877,NM_153646.3;SLC24A4,synonymous_variant,p.=,ENST00000393265,NM_153648.3;SLC24A4,synonymous_variant,p.=,ENST00000351924,;SLC24A4,synonymous_variant,p.=,ENST00000525557,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000556739,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000526482,;SLC24A4,non_coding_transcript_exon_variant,,ENST00000554925,;							LOW	912/1869		NCKX4_HUMAN			Transcript			.	ENSP00000431840		CCDS9903.2			1	
MICAL2	0	LGGM	GRCh37	11	12241936	12241936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	3	.	.	ENST00000256194.4:c.1137C>A	p.Asn379Lys	p.N379K	ENST00000256194	NM_014632.2	379	aaC/aaA	0	1	1	UPI000000DA92	0	getma.org/pdb.php?prot=MICA2_HUMAN&from=344&to=519&var=N379K	ENST00000256194		ENSG00000133816	24693		29	1.775		HGNC	p.N379K		MICAL2		SNV							ENST00000342902	protein_coding	getma.org/?cm=var&var=hg19,11,12241936,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239		N/K		A	low	1425/3906		getma.org/?cm=msa&ty=f&p=MICA2_HUMAN&rb=344&re=519&var=N379K	deleterious(0)	E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN			YES	MICAL2,missense_variant,p.Asn379Lys,ENST00000256194,NM_014632.2,NM_001282663.1;MICAL2,missense_variant,p.Asn379Lys,ENST00000537344,NM_001282665.1;MICAL2,missense_variant,p.Asn379Lys,ENST00000342902,NM_001282664.1;MICAL2,missense_variant,p.Asn379Lys,ENST00000527546,NM_001282665.1;MICAL2,missense_variant,p.Asn379Lys,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,;							MODERATE	1137/3375	N379K	MICA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000256194		CCDS7809.1			1	
TRIM71	0	LGGM	GRCh37	3	32932471	32932471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000383763.5:c.1775C>A	p.Pro592Gln	p.P592Q	ENST00000383763	NM_001039111.1	592	cCg/cAg	0	1	1	UPI000067CB89	0	NA	ENST00000383763		ENSG00000206557	32669		12	1.115		HGNC	p.P592Q		TRIM71		SNV							ENST00000383763	protein_coding	getma.org/?cm=var&var=hg19,3,32932471,C,A&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103		P/Q		A	low	1838/8685		getma.org/?cm=msa&ty=f&p=LIN41_HUMAN&rb=548&re=635&var=P592Q	tolerated(0.3)				YES	TRIM71,missense_variant,p.Pro592Gln,ENST00000383763,NM_001039111.1;							MODERATE	1775/2607	P592Q	LIN41_HUMAN			Transcript		possibly_damaging(0.514)	.	ENSP00000373272		CCDS43060.1			1	
HOXA11	0	LGGM	GRCh37	7	27224576	27224576	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000006015.3:c.188G>T	p.Arg63Ile	p.R63I	ENST00000006015	NM_005523.5	63	aGa/aTa	0	1	1	UPI000000D992	0	NA	ENST00000006015		ENSG00000005073	5101		18	3.155		HGNC	p.R63I		HOXA11		SNV			1				ENST00000006015	protein_coding	getma.org/?cm=var&var=hg19,7,27224576,C,A&fts=all		Pfam_domain:PF12045,hmmpanther:PTHR24326:SF50,hmmpanther:PTHR24326		R/I		A	medium	260/2295		getma.org/?cm=msa&ty=f&p=HXA11_HUMAN&rb=25&re=174&var=R63I	deleterious(0)				YES	HOXA11,missense_variant,p.Arg63Ile,ENST00000006015,NM_005523.5;HOXA11,missense_variant,p.Arg33Ile,ENST00000517402,;HOXA10,upstream_gene_variant,,ENST00000396344,;RP1-170O19.20,upstream_gene_variant,,ENST00000470747,;RP1-170O19.14,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000522863,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;							MODERATE	188/942	R63I	HXA11_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000006015		CCDS5411.1			1	
LRRC47	0	LGGM	GRCh37	1	3699292	3699292	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000378251.1:c.1346C>A	p.Pro449Gln	p.P449Q	ENST00000378251	NM_020710.2	449	cCg/cAg	0	1	1	UPI000006DEDC	0	getma.org/pdb.php?prot=LRC47_HUMAN&from=332&to=500&var=P449Q	ENST00000378251		ENSG00000130764	29207		13	3.885		HGNC	p.P449Q		LRRC47		SNV							ENST00000378251	protein_coding	getma.org/?cm=var&var=hg19,1,3699292,G,T&fts=all		hmmpanther:PTHR10947:SF2,hmmpanther:PTHR10947,Pfam_domain:PF03483,SMART_domains:SM00873		P/Q		T	high	1374/2648		getma.org/?cm=msa&ty=f&p=LRC47_HUMAN&rb=332&re=500&var=P449Q	deleterious(0)				YES	LRRC47,missense_variant,p.Pro449Gln,ENST00000378251,NM_020710.2;RP1-286D6.5,upstream_gene_variant,,ENST00000607459,;RN7SL574P,upstream_gene_variant,,ENST00000581512,;LRRC47,3_prime_UTR_variant,,ENST00000479239,;LRRC47,non_coding_transcript_exon_variant,,ENST00000462356,;							MODERATE	1346/1752	P449Q	LRC47_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367498		CCDS51.1			1	
BAD	0	LGGM	GRCh37	11	64051814	64051814	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	3	.	.	ENST00000394532.3:c.27G>T	p.Pro9=	p.P9=	ENST00000394532	NM_004322.3	9	ccG/ccT	0	1		UPI0000035C7F	0		ENST00000309032		ENSG00000002330	936		26			HGNC	p.P9P		BAD		SNV							ENST00000394532	protein_coding			Pfam_domain:PF10514		P		A		74/929				F5H3B1_HUMAN,F5H1R6_HUMAN				BAD,synonymous_variant,p.=,ENST00000394532,NM_004322.3;BAD,synonymous_variant,p.=,ENST00000309032,NM_032989.2;BAD,synonymous_variant,p.=,ENST00000394531,;BAD,synonymous_variant,p.=,ENST00000544785,;GPR137,5_prime_UTR_variant,,ENST00000411458,NM_001170726.1;GPR137,intron_variant,,ENST00000546139,;GPR137,intron_variant,,ENST00000538244,;GPR137,upstream_gene_variant,,ENST00000539851,NM_001177358.1;GPR137,upstream_gene_variant,,ENST00000438980,NM_001170880.1;GPR137,upstream_gene_variant,,ENST00000313074,NM_020155.3;GPR137,upstream_gene_variant,,ENST00000377702,NM_001170881.1;GPR137,upstream_gene_variant,,ENST00000539833,;GPR137,upstream_gene_variant,,ENST00000543383,;GPR137,upstream_gene_variant,,ENST00000536667,;GPR137,upstream_gene_variant,,ENST00000538032,;GPR137,upstream_gene_variant,,ENST00000535675,;GPR137,upstream_gene_variant,,ENST00000540370,;GPR137,upstream_gene_variant,,ENST00000541952,;GPR137,upstream_gene_variant,,ENST00000542190,;GPR137,upstream_gene_variant,,ENST00000536282,;BAD,non_coding_transcript_exon_variant,,ENST00000544271,;GPR137,upstream_gene_variant,,ENST00000536017,;GPR137,upstream_gene_variant,,ENST00000546201,;GPR137,upstream_gene_variant,,ENST00000545366,;							LOW	27/507		BAD_HUMAN			Transcript			.	ENSP00000309103		CCDS8065.1			1	
LTBP4	0	LGGM	GRCh37	19	41111007	41111007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000308370.7:c.518C>A	p.Pro173Gln	p.P173Q	ENST00000308370	NM_001042544.1	173	cCg/cAg	0	1	1	UPI000179A7A0	0	NA	ENST00000308370		ENSG00000090006	6717		23	2.2		HGNC	p.P173Q		LTBP4		SNV			1				ENST00000308370	protein_coding	getma.org/?cm=var&var=hg19,19,41111007,C,A&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026		P/Q		A	medium	518/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=149&re=181&var=P173Q	deleterious(0)				YES	LTBP4,missense_variant,p.Pro173Gln,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Pro136Gln,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Pro106Gln,ENST00000396819,NM_001042545.1;LTBP4,5_prime_UTR_variant,,ENST00000545697,;RN7SL758P,downstream_gene_variant,,ENST00000580450,;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,,ENST00000599016,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600026,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000593738,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000595529,;							MODERATE	518/4872	P173Q	LTBP4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311905					1	
ITIH6	0	LGGM	GRCh37	X	54777751	54777751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	7	3	.	.	ENST00000218436.6:c.3415C>A	p.Arg1139Ser	p.R1139S	ENST00000218436	NM_198510.2	1139	Cgc/Agc	0	1	1	UPI00000540C8	0	NA	ENST00000218436		ENSG00000102313	28907		10	0.58		HGNC	p.R1139S		ITIH6		SNV							ENST00000218436	protein_coding	getma.org/?cm=var&var=hg19,X,54777751,G,T&fts=all		Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10		R/S		T	neutral	3445/4968		getma.org/?cm=msa&ty=f&p=ITIH6_HUMAN&rb=1001&re=1200&var=R1139S	deleterious(0.02)				YES	ITIH6,missense_variant,p.Arg1139Ser,ENST00000218436,NM_198510.2;							MODERATE	3415/3942	R1139S	ITIH6_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000218436		CCDS14361.1			1	
RAB3D	0	LGGM	GRCh37	19	11446410	11446410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000222120.3:c.278G>T	p.Arg93Leu	p.R93L	ENST00000222120	NM_004283.3	93	cGg/cTg	0	1	1	UPI000000125B	0	getma.org/pdb.php?prot=RAB3D_HUMAN&from=24&to=185&var=R93L	ENST00000222120		ENSG00000105514	9779		23	3.615		HGNC	p.R93L		RAB3D		SNV							ENST00000589655	protein_coding	getma.org/?cm=var&var=hg19,19,11446410,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF330,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/L		A	high	539/4273		getma.org/?cm=msa&ty=f&p=RAB3D_HUMAN&rb=24&re=185&var=R93L	deleterious(0)				YES	RAB3D,missense_variant,p.Arg93Leu,ENST00000222120,NM_004283.3;RAB3D,missense_variant,p.Arg93Leu,ENST00000589655,;							MODERATE	278/660	R93L	RAB3D_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000222120		CCDS12257.1			1	
RHOJ	0	LGGM	GRCh37	14	63671597	63671597	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000316754.3:c.10A>T	p.Lys4Ter	p.K4*	ENST00000316754	NM_020663.4	4	Aaa/Taa	0	1	1	UPI0000133894	0	NA	ENST00000316754		ENSG00000126785	688		13	0		HGNC	p.K4X		RHOJ		SNV							ENST00000316754	protein_coding	getma.org/?cm=var&var=hg19,14,63671597,A,T&fts=all				K/*		T	NA	472/3302		NA					YES	RHOJ,stop_gained,p.Lys4Ter,ENST00000316754,NM_020663.4;RHOJ,stop_gained,p.Lys4Ter,ENST00000555125,;RHOJ,non_coding_transcript_exon_variant,,ENST00000557133,;RHOJ,stop_gained,p.Lys4Ter,ENST00000557447,;							HIGH	10/645	K4*	RHOJ_HUMAN			Transcript			.	ENSP00000316729		CCDS9757.1			1	
SLX4	0	LGGM	GRCh37	16	3639784	3639784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000294008.3:c.3855G>T	p.Gln1285His	p.Q1285H	ENST00000294008	NM_032444.2	1285	caG/caT	0	1	1	UPI000050D2C5	0	NA	ENST00000294008		ENSG00000188827	23845		12	0		HGNC	p.Q1285H		SLX4		SNV			1				ENST00000294008	protein_coding	getma.org/?cm=var&var=hg19,16,3639784,C,A&fts=all		hmmpanther:PTHR21541		Q/H		A	neutral	4496/7307		getma.org/?cm=msa&ty=f&p=SLX4_HUMAN&rb=1194&re=1393&var=Q1285H	tolerated(0.07)				YES	SLX4,missense_variant,p.Gln1285His,ENST00000294008,NM_032444.2;							MODERATE	3855/5505	Q1285H	SLX4_HUMAN			Transcript		benign(0.06)	.	ENSP00000294008		CCDS10506.2			1	
ZDHHC16	0	LGGM	GRCh37	10	99211577	99211577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	3	3	.	.	ENST00000393760.1:c.145C>A	p.Leu49Met	p.L49M	ENST00000393760	NM_198046.1	49	Ctg/Atg	0	1		UPI0000073C8D	0	NA	ENST00000370854		ENSG00000171307	20714		6	2.345		HGNC	p.L49M		ZDHHC16		SNV							ENST00000352634	protein_coding	getma.org/?cm=var&var=hg19,10,99211577,C,A&fts=all		hmmpanther:PTHR12246,hmmpanther:PTHR12246:SF11		L/M		A	medium	334/1798		getma.org/?cm=msa&ty=f&p=ZDH16_HUMAN&rb=1&re=129&var=L49M	deleterious(0.03)	B4DNL2_HUMAN,B1AMU5_HUMAN				ZDHHC16,missense_variant,p.Leu49Met,ENST00000393760,NM_198046.1;ZDHHC16,missense_variant,p.Leu49Met,ENST00000370842,;ZDHHC16,missense_variant,p.Leu49Met,ENST00000370854,NM_032327.2;ZDHHC16,missense_variant,p.Leu49Met,ENST00000352634,NM_198043.1;ZDHHC16,missense_variant,p.Leu49Met,ENST00000353979,NM_198044.1;ZDHHC16,missense_variant,p.Leu49Met,ENST00000345745,NM_198045.1;ZDHHC16,missense_variant,p.Leu25Met,ENST00000420089,;ZDHHC16,missense_variant,p.Leu49Met,ENST00000370846,NM_001287804.1;ZDHHC16,missense_variant,p.Leu49Met,ENST00000414567,;ZDHHC16,missense_variant,p.Leu49Met,ENST00000433086,;ZDHHC16,upstream_gene_variant,,ENST00000417044,NM_001287803.1;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000495735,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000462924,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000492610,;ZDHHC16,intron_variant,,ENST00000466895,;ZDHHC16,intron_variant,,ENST00000459777,;ZDHHC16,upstream_gene_variant,,ENST00000487315,;ZDHHC16,upstream_gene_variant,,ENST00000492733,;							MODERATE	145/1134	L49M	ZDH16_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000359891		CCDS7460.1			1	
LYST	0	LGGM	GRCh37	1	235891376	235891376	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	3	.	.	ENST00000389794.3:c.9162G>T	p.Ser3054=	p.S3054=	ENST00000389794		3054	tcG/tcT	0	1		UPI000020509E	0		ENST00000389793		ENSG00000143669	1968		34			HGNC	p.S3054S		LYST		SNV			1				ENST00000389793	protein_coding			Gene3D:1t77A01,Pfam_domain:PF14844,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,Superfamily_domains:SSF50729		S		A		9337/13471								LYST,splice_region_variant,p.=,ENST00000389794,;LYST,splice_region_variant,p.=,ENST00000389793,NM_000081.3;LYST,splice_region_variant,,ENST00000473037,;LYST,splice_region_variant,,ENST00000475277,;							LOW	9162/11406		LYST_HUMAN			Transcript			.	ENSP00000374443		CCDS31062.1			1	
PLAC8L1	0	LGGM	GRCh37	5	145477814	145477814	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	3	.	.	ENST00000311450.4:c.161G>T	p.Arg54Leu	p.R54L	ENST00000311450	NM_001029869.1	54	cGg/cTg	0	1	1	UPI000015FDFA	0	NA	ENST00000311450		ENSG00000173261	31746		42	1.04		HGNC	p.R54L		PLAC8L1		SNV							ENST00000512998	protein_coding	getma.org/?cm=var&var=hg19,5,145477814,C,A&fts=all		hmmpanther:PTHR15907:SF38,hmmpanther:PTHR15907		R/L		A	low	219/638		getma.org/?cm=msa&ty=f&p=PL8L1_HUMAN&rb=1&re=71&var=R54L	tolerated(0.49)				YES	PLAC8L1,missense_variant,p.Arg54Leu,ENST00000311450,NM_001029869.1;RP11-118M9.3,upstream_gene_variant,,ENST00000514002,;PLAC8L1,missense_variant,p.Arg54Leu,ENST00000512998,;							MODERATE	161/534	R54L	PL8L1_HUMAN			Transcript		benign(0.081)	.	ENSP00000309087		CCDS34264.1			1	
ESRP2	0	LGGM	GRCh37	16	68269633	68269633	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	3	.	.	ENST00000473183.2:c.231C>A	p.Ala77=	p.A77=	ENST00000473183		77	gcC/gcA	0	1		UPI0000070326	0		ENST00000565858		ENSG00000103067	26152		8			HGNC	p.A77A		ESRP2		SNV							ENST00000565858	protein_coding			Gene3D:3.30.420.10,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30,Superfamily_domains:SSF53098		A		T		318/3386				J3QQJ9_HUMAN,J3KRF2_HUMAN				ESRP2,synonymous_variant,p.=,ENST00000473183,;ESRP2,synonymous_variant,p.=,ENST00000565858,NM_024939.2;ESRP2,5_prime_UTR_variant,,ENST00000564382,;ESRP2,5_prime_UTR_variant,,ENST00000562724,;RP11-96D1.6,downstream_gene_variant,,ENST00000564147,;ESRP2,non_coding_transcript_exon_variant,,ENST00000251366,;ESRP2,non_coding_transcript_exon_variant,,ENST00000569964,;ESRP2,upstream_gene_variant,,ENST00000566774,;ESRP2,upstream_gene_variant,,ENST00000562567,;ESRP2,upstream_gene_variant,,ENST00000564465,;ESRP2,upstream_gene_variant,,ENST00000563159,;ESRP2,upstream_gene_variant,,ENST00000562738,;ESRP2,upstream_gene_variant,,ENST00000565213,;							LOW	231/2184		ESRP2_HUMAN			Transcript			.	ENSP00000454554					1	
NOTCH1	0	LGGM	GRCh37	9	139404271	139404271	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000277541.6:c.2883G>T	p.Thr961=	p.T961=	ENST00000277541	NM_017617.3	961	acG/acT	0	1	1	UPI0000210F68	0		ENST00000277541		ENSG00000148400	7881		20			HGNC	p.T961T		NOTCH1		SNV			1				ENST00000277541	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF37,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		T		A		2959/9371				H9CXX2_HUMAN			YES	NOTCH1,synonymous_variant,p.=,ENST00000277541,NM_017617.3;NOTCH1,upstream_gene_variant,,ENST00000494783,;							LOW	2883/7668		NOTC1_HUMAN			Transcript			.	ENSP00000277541		CCDS43905.1			1	
ZC3HAV1	0	LGGM	GRCh37	7	138764804	138764804	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	3	.	.	ENST00000242351.5:c.883C>A	p.Arg295Ser	p.R295S	ENST00000242351	NM_020119.3	295	Cgc/Agc	0	1	1	UPI00001612AE	0	NA	ENST00000242351		ENSG00000105939	23721		40	0		HGNC	p.R295S		ZC3HAV1		SNV							ENST00000242351	protein_coding	getma.org/?cm=var&var=hg19,7,138764804,G,T&fts=all		hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49		R/S		T	neutral	1200/7100		getma.org/?cm=msa&ty=f&p=ZCCHV_HUMAN&rb=201&re=400&var=R295S	tolerated(0.22)				YES	ZC3HAV1,missense_variant,p.Arg295Ser,ENST00000242351,NM_020119.3;ZC3HAV1,missense_variant,p.Arg295Ser,ENST00000464606,;ZC3HAV1,missense_variant,p.Arg295Ser,ENST00000471652,NM_024625.3;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;							MODERATE	883/2709	R295S	ZCCHV_HUMAN			Transcript		benign(0)	.	ENSP00000242351		CCDS5851.1			1	
LZTR1	0	LGGM	GRCh37	22	21350313	21350313	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	19	3	.	.	ENST00000215739.8:c.2131G>T	p.Gly711Trp	p.G711W	ENST00000215739	NM_006767.3	711	Ggg/Tgg	0	1	1	UPI000013C695	0	getma.org/pdb.php?prot=LZTR1_HUMAN&from=656&to=765&var=G711W	ENST00000215739		ENSG00000099949	6742		22	2.83		HGNC	p.G711W		LZTR1		SNV			1				ENST00000215739	protein_coding	getma.org/?cm=var&var=hg19,22,21350313,G,T&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		G/W		T	medium	2490/4572		getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=656&re=765&var=G711W	deleterious(0)	B2R8T5_HUMAN			YES	LZTR1,missense_variant,p.Gly711Trp,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Gly692Trp,ENST00000389355,;LZTR1,missense_variant,p.Gly11Trp,ENST00000415817,;THAP7,downstream_gene_variant,,ENST00000215742,NM_030573.2;THAP7,downstream_gene_variant,,ENST00000399133,NM_001008695.1;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,3_prime_UTR_variant,,ENST00000452988,;LZTR1,3_prime_UTR_variant,,ENST00000415354,;LZTR1,3_prime_UTR_variant,,ENST00000439171,;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,,ENST00000414985,;LZTR1,downstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000492480,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000491432,;THAP7,downstream_gene_variant,,ENST00000488975,;LZTR1,downstream_gene_variant,,ENST00000461510,;							MODERATE	2131/2523	G711W	LZTR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000215739		CCDS33606.1			1	
TTC17	0	LGGM	GRCh37	11	43419628	43419628	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	29	3	.	.	ENST00000039989.4:c.1023G>A	p.Gln341=	p.Q341=	ENST00000039989	NM_018259.5	341	caG/caA	0	1	1	UPI000006E6C7	0		ENST00000039989		ENSG00000052841	25596		32			HGNC	p.Q341Q		TTC17		SNV							ENST00000039989	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16091,Superfamily_domains:SSF48452		Q		A		1037/4469							YES	TTC17,synonymous_variant,p.=,ENST00000039989,NM_018259.5;TTC17,synonymous_variant,p.=,ENST00000299240,;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;RP11-484D2.4,downstream_gene_variant,,ENST00000394183,;TTC17,synonymous_variant,p.=,ENST00000525029,;TTC17,downstream_gene_variant,,ENST00000524936,;							LOW	1023/3426		TTC17_HUMAN			Transcript			.	ENSP00000039989		CCDS31466.1			1	
TP53BP2	0	LGGM	GRCh37	1	223987701	223987701	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	33	3	.	.	ENST00000343537.7:c.1385C>A	p.Pro462Gln	p.P462Q	ENST00000343537	NM_001031685.2	462	cCg/cAg	0	1	1	UPI0000D4B5F2	0	NA	ENST00000343537		ENSG00000143514	12000		36	2.32		HGNC	p.P462Q		TP53BP2		SNV							ENST00000343537	protein_coding	getma.org/?cm=var&var=hg19,1,223987701,G,T&fts=all		hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF8		P/Q		T	medium	1677/4651		getma.org/?cm=msa&ty=f&p=ASPP2_HUMAN&rb=401&re=600&var=P456Q	deleterious(0.01)	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN			YES	TP53BP2,missense_variant,p.Pro333Gln,ENST00000391878,NM_005426.2;TP53BP2,missense_variant,p.Pro462Gln,ENST00000343537,NM_001031685.2;TP53BP2,5_prime_UTR_variant,,ENST00000391879,;TP53BP2,intron_variant,,ENST00000494100,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000489310,;TP53BP2,downstream_gene_variant,,ENST00000481128,;TP53BP2,downstream_gene_variant,,ENST00000496282,;TP53BP2,missense_variant,p.Pro26Gln,ENST00000483398,;TP53BP2,missense_variant,p.Pro26Gln,ENST00000464656,;TP53BP2,downstream_gene_variant,,ENST00000490896,;TP53BP2,downstream_gene_variant,,ENST00000464172,;							MODERATE	1385/3405	P456Q	ASPP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341957		CCDS44319.1			1	
PARD6A	0	LGGM	GRCh37	16	67695438	67695438	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000219255.3:c.144G>T	p.Ala48=	p.A48=	ENST00000219255		48	gcG/gcT	0	1	1	UPI000006F1C0	0		ENST00000219255		ENSG00000102981	15943		16			HGNC	p.A48A		PARD6A		SNV							ENST00000458121	protein_coding			hmmpanther:PTHR14102:SF9,hmmpanther:PTHR14102,Gene3D:3.10.20.240,Pfam_domain:PF00564,SMART_domains:SM00666,Superfamily_domains:SSF54277		A		T		224/1248							YES	PARD6A,synonymous_variant,p.=,ENST00000458121,NM_001037281.1,NM_016948.2;PARD6A,synonymous_variant,p.=,ENST00000219255,;PARD6A,synonymous_variant,p.=,ENST00000602551,;RLTPR,downstream_gene_variant,,ENST00000334583,NM_001013838.1;RLTPR,downstream_gene_variant,,ENST00000545661,;ACD,upstream_gene_variant,,ENST00000219251,NM_001082487.1,NM_022914.2,NM_001082486.1;ACD,upstream_gene_variant,,ENST00000393919,;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.1;ACD,upstream_gene_variant,,ENST00000602320,;ENKD1,downstream_gene_variant,,ENST00000602644,;ACD,upstream_gene_variant,,ENST00000602850,;ACD,upstream_gene_variant,,ENST00000602382,;ENKD1,downstream_gene_variant,,ENST00000602409,;PARD6A,non_coding_transcript_exon_variant,,ENST00000602727,;ACD,upstream_gene_variant,,ENST00000602622,;ACD,upstream_gene_variant,,ENST00000602860,;ENKD1,downstream_gene_variant,,ENST00000602942,;ACD,upstream_gene_variant,,ENST00000602519,;RLTPR,downstream_gene_variant,,ENST00000602368,;ENKD1,downstream_gene_variant,,ENST00000602531,;ACD,upstream_gene_variant,,ENST00000602945,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,upstream_gene_variant,,ENST00000602656,;RLTPR,downstream_gene_variant,,ENST00000602705,;ACD,upstream_gene_variant,,ENST00000602780,;ACD,upstream_gene_variant,,ENST00000602821,;ENKD1,downstream_gene_variant,,ENST00000602642,;ACD,upstream_gene_variant,,ENST00000602423,;							LOW	144/1041		PAR6A_HUMAN			Transcript			.	ENSP00000219255		CCDS10843.1			1	
KRT18	0	LGGM	GRCh37	12	53343161	53343161	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	3	.	.	ENST00000388835.3:c.204C>A	p.Ala68=	p.A68=	ENST00000388835	NM_000224.2	68	gcC/gcA	0	1	1	UPI000004284B	0		ENST00000388835		ENSG00000111057	6430		9			HGNC	p.A68A		KRT18		SNV			1				ENST00000388835	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF35,Low_complexity_(Seg):seg		A		A		414/1562				I6L965_HUMAN			YES	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,;							LOW	204/1293		K1C18_HUMAN			Transcript			.	ENSP00000373487		CCDS31809.1			1	
DLG5	0	LGGM	GRCh37	10	79590038	79590038	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	3	.	.	ENST00000372391.2:c.1946C>A	p.Pro649Gln	p.P649Q	ENST00000372391	NM_004747.3	649	cCg/cAg	0	1	1	UPI0000470041	0	getma.org/pdb.php?prot=DLG5_HUMAN&from=626&to=707&var=P649Q	ENST00000372391		ENSG00000151208	2904		19	2.065		HGNC	p.P649Q		DLG5		SNV							ENST00000372391	protein_coding	getma.org/?cm=var&var=hg19,10,79590038,G,T&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR13865,SMART_domains:SM00228,Superfamily_domains:SSF50156		P/Q		T	medium	1952/7415		getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=626&re=707&var=P649Q	deleterious(0.02)				YES	DLG5,missense_variant,p.Pro649Gln,ENST00000372391,NM_004747.3;DLG5,missense_variant,p.Pro649Gln,ENST00000372388,;DLG5,upstream_gene_variant,,ENST00000424842,;DLG5,3_prime_UTR_variant,,ENST00000468332,;DLG5,non_coding_transcript_exon_variant,,ENST00000475613,;							MODERATE	1946/5760	P649Q	DLG5_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000361467		CCDS7353.2			1	
ASB14	0	LGGM	GRCh37	3	57312921	57312921	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	3	.	.	ENST00000487349.1:c.915G>T	p.Thr305=	p.T305=	ENST00000487349	NM_001142733.2	305	acG/acT	0	1		UPI00015E08B2	0		ENST00000389601		ENSG00000239388	19766		28			HGNC	p.T305T		ASB14		SNV							ENST00000389601	protein_coding			Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF3,SMART_domains:SM00248,Superfamily_domains:SSF48403		T		A		1036/3175								ASB14,synonymous_variant,p.=,ENST00000487349,NM_001142733.2,NM_130387.5;ASB14,synonymous_variant,p.=,ENST00000389601,NM_130387.5;ASB14,non_coding_transcript_exon_variant,,ENST00000515033,;							LOW	915/1764		ASB14_HUMAN			Transcript			.	ENSP00000374252					1	
ALOX5	0	LGGM	GRCh37	10	45938508	45938508	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000374391.2:c.1295G>T	p.Gly432Val	p.G432V	ENST00000374391	NM_000698.3	432	gGg/gTg	0	1	1	UPI0000043F84	0	getma.org/pdb.php?prot=LOX5_HUMAN&from=150&to=666&var=G432V	ENST00000374391		ENSG00000012779	435		14	3.37		HGNC	p.G432V		ALOX5		SNV							ENST00000374391	protein_coding	getma.org/?cm=var&var=hg19,10,45938508,G,T&fts=all		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF5,hmmpanther:PTHR11771,Gene3D:1.20.245.10,Pfam_domain:PF00305,Superfamily_domains:SSF48484,Prints_domain:PR00467		G/V		T	medium	1348/2504		getma.org/?cm=msa&ty=f&p=LOX5_HUMAN&rb=150&re=666&var=G432V	deleterious(0)	E5FPY7_HUMAN			YES	ALOX5,missense_variant,p.Gly432Val,ENST00000374391,NM_000698.3,NM_001256153.1;ALOX5,missense_variant,p.Gly432Val,ENST00000542434,NM_001256154.1;RP11-67C2.2,downstream_gene_variant,,ENST00000435635,;ALOX5,non_coding_transcript_exon_variant,,ENST00000493336,;ALOX5,upstream_gene_variant,,ENST00000498461,;ALOX5,upstream_gene_variant,,ENST00000481117,;ALOX5,downstream_gene_variant,,ENST00000475300,;							MODERATE	1295/2025	G432V	LOX5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363512		CCDS7212.1			1	
LRFN2	0	LGGM	GRCh37	6	40400619	40400619	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000338305.6:c.234G>T	p.Leu78=	p.L78=	ENST00000338305	NM_020737.1	78	ctG/ctT	0	1	1	UPI00001C1E47	0		ENST00000338305		ENSG00000156564	21226		12			HGNC	p.L78L		LRFN2		SNV							ENST00000338305	protein_coding			Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25,PROSITE_profiles:PS51450		L		A		777/3270							YES	LRFN2,synonymous_variant,p.=,ENST00000338305,NM_020737.1;							LOW	234/2370		LRFN2_HUMAN			Transcript			.	ENSP00000345985		CCDS34443.1			1	
DDX54	0	LGGM	GRCh37	12	113612680	113612680	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	4	3	.	.	ENST00000314045.7:c.936G>T	p.Lys312Asn	p.K312N	ENST00000314045	NM_001111322.1	312	aaG/aaT	0	1		UPI00003588F0	0	NA	ENST00000306014		ENSG00000123064	20084		7	2.595		HGNC	p.K312N		DDX54		SNV							ENST00000314045	protein_coding	getma.org/?cm=var&var=hg19,12,113612680,C,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF71		K/N		A	medium	964/4377		getma.org/?cm=msa&ty=f&p=DDX54_HUMAN&rb=288&re=355&var=K312N	deleterious(0.02)	F8VRX4_HUMAN				DDX54,missense_variant,p.Lys312Asn,ENST00000314045,NM_001111322.1;DDX54,missense_variant,p.Lys312Asn,ENST00000306014,NM_024072.3;DDX54,downstream_gene_variant,,ENST00000552375,;Y_RNA,downstream_gene_variant,,ENST00000364338,;DDX54,downstream_gene_variant,,ENST00000551344,;DDX54,downstream_gene_variant,,ENST00000546869,;							MODERATE	936/2646	K312N	DDX54_HUMAN			Transcript		benign(0.288)	.	ENSP00000304072		CCDS31907.1			1	
NPR2	0	LGGM	GRCh37	9	35808776	35808776	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	12	3	.	.	ENST00000342694.2:c.2912G>T	p.Gly971Val	p.G971V	ENST00000342694	NM_003995.3	971	gGc/gTc	0	1	1	UPI0000125B42	0	getma.org/pdb.php?prot=ANPRB_HUMAN&from=852&to=1038&var=G971V	ENST00000342694		ENSG00000159899	7944		15	4.99		HGNC	p.G971V		NPR2		SNV			1				ENST00000342694	protein_coding	getma.org/?cm=var&var=hg19,9,35808776,G,T&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_patterns:PS00452,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF231,SMART_domains:SM00044,Superfamily_domains:SSF55073		G/V		T	high	3167/3686		getma.org/?cm=msa&ty=f&p=ANPRB_HUMAN&rb=852&re=1038&var=G971V	deleterious(0)				YES	NPR2,missense_variant,p.Gly971Val,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,missense_variant,p.Ala76Ser,ENST00000448821,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;NPR2,non_coding_transcript_exon_variant,,ENST00000469249,;SPAG8,intron_variant,,ENST00000475644,;SPAG8,intron_variant,,ENST00000460836,;SPAG8,downstream_gene_variant,,ENST00000472605,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000471631,;							MODERATE	2912/3144	G971V	ANPRB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341083		CCDS6590.1			1	
SOST	0	LGGM	GRCh37	17	41832754	41832754	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	3	.	.	ENST00000301691.2:c.598C>A	p.Arg200=	p.R200=	ENST00000301691	NM_025237.2	200	Cgg/Agg	0	1	1	UPI0000035BBE	0		ENST00000301691		ENSG00000167941	13771	9.05E-05	9			HGNC	p.R200R	rs769015314	SOST		SNV			1				ENST00000301691	protein_coding			Pfam_domain:PF05463,hmmpanther:PTHR14903,hmmpanther:PTHR14903:SF4,Low_complexity_(Seg):seg		R		T		645/2300							YES	SOST,synonymous_variant,p.=,ENST00000301691,NM_025237.2;							LOW	598/642		SOST_HUMAN			Transcript			.	ENSP00000301691	8.50E-06	CCDS11468.1			1	
CECR2	0	LGGM	GRCh37	22	18022267	18022267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	3	.	.	ENST00000262608.8:c.2372G>T	p.Arg791Leu	p.R791L	ENST00000262608	NM_031413.3	791	cGa/cTa	0	1		UPI0001AE62C7	0	NA	ENST00000342247		ENSG00000099954	1840		39	1.995	3433	HGNC	p.R790L		CECR2		SNV							ENST00000400573	protein_coding	getma.org/?cm=var&var=hg19,22,18022267,G,T&fts=all						T	medium	-/1448		getma.org/?cm=msa&ty=f&p=CECR2_HUMAN&rb=594&re=1482&var=R832L		H7BXW8_HUMAN				CECR2,missense_variant,p.Arg790Leu,ENST00000400573,;CECR2,missense_variant,p.Arg791Leu,ENST00000262608,NM_031413.3;CECR2,missense_variant,p.Arg649Leu,ENST00000400585,;CECR2,downstream_gene_variant,,ENST00000342247,;							MODIFIER	-/1371	R832L				Transcript			.	ENSP00000341219					1	
CIITA	0	LGGM	GRCh37	16	10989218	10989218	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000324288.8:c.132C>A	p.Pro44=	p.P44=	ENST00000324288	NM_000246.3	44	ccC/ccA	0	1	1	UPI0000456914	0		ENST00000324288		ENSG00000179583	7067		14			HGNC	p.P44P		CIITA		SNV			1				ENST00000571186	protein_coding			Prints_domain:PR01719		P		A		265/9438				I3L2E5_HUMAN			YES	CIITA,synonymous_variant,p.=,ENST00000324288,NM_000246.3,NM_001286402.1;CIITA,synonymous_variant,p.=,ENST00000381835,NM_001286403.1;CIITA,synonymous_variant,p.=,ENST00000576601,;CIITA,non_coding_transcript_exon_variant,,ENST00000537380,;CIITA,synonymous_variant,p.=,ENST00000571186,;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,;							LOW	132/3393		C2TA_HUMAN			Transcript			.	ENSP00000316328		CCDS10544.1			1	
DNAJC16	0	LGGM	GRCh37	1	15863239	15863239	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	3	.	.	ENST00000375847.3:c.504C>A	p.Ser168=	p.S168=	ENST00000375847	NM_015291.2	168	tcC/tcA	0	1	1	UPI000000DBDB	0		ENST00000375847		ENSG00000116138	29157		19			HGNC	p.S168S		DNAJC16		SNV							ENST00000375849	protein_coding			PROSITE_profiles:PS51352,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF143,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833		S		A		668/6069				B3KMS3_HUMAN			YES	DNAJC16,synonymous_variant,p.=,ENST00000375847,NM_015291.2,NM_001287811.1;DNAJC16,synonymous_variant,p.=,ENST00000375849,;DNAJC16,synonymous_variant,p.=,ENST00000375838,;DNAJC16,synonymous_variant,p.=,ENST00000475133,;							LOW	504/2349		DJC16_HUMAN			Transcript			.	ENSP00000365007		CCDS30606.1			1	
RGS16	0	LGGM	GRCh37	1	182569616	182569616	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	3	.	.	ENST00000367558.5:c.420G>T	p.Thr140=	p.T140=	ENST00000367558	NM_002928.3	140	acG/acT	0	1	1	UPI000013D8E9	0		ENST00000367558		ENSG00000143333	9997		19			HGNC	p.T140T		RGS16		SNV							ENST00000367558	protein_coding			Gene3D:1.10.167.10,Pfam_domain:PF00615,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,SMART_domains:SM00315,Superfamily_domains:SSF48097		T		A		569/2427							YES	RGS16,synonymous_variant,p.=,ENST00000367558,NM_002928.3;							LOW	420/609		RGS16_HUMAN			Transcript			.	ENSP00000356529		CCDS1348.1			1	
DNAJC5G	0	LGGM	GRCh37	2	27499624	27499624	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	19	3	.	.	ENST00000296097.3:c.28C>A	p.Arg10=	p.R10=	ENST00000296097	NM_173650.1	10	Cgg/Agg	0	1	1	UPI0000070AD2	0		ENST00000296097		ENSG00000163793	24844		22			HGNC	p.R10R		DNAJC5G		SNV							ENST00000402462	protein_coding			hmmpanther:PTHR24078:SF149,hmmpanther:PTHR24078		R		A		446/2008							YES	DNAJC5G,synonymous_variant,p.=,ENST00000296097,NM_173650.1;DNAJC5G,synonymous_variant,p.=,ENST00000402462,;DNAJC5G,synonymous_variant,p.=,ENST00000404433,;DNAJC5G,synonymous_variant,p.=,ENST00000406962,;DNAJC5G,synonymous_variant,p.=,ENST00000420191,;SLC30A3,upstream_gene_variant,,ENST00000447008,;SLC30A3,upstream_gene_variant,,ENST00000426924,;SLC30A3,upstream_gene_variant,,ENST00000424577,;SLC30A3,upstream_gene_variant,,ENST00000426569,;DNAJC5G,upstream_gene_variant,,ENST00000460358,;							LOW	28/570		DNJ5G_HUMAN			Transcript			.	ENSP00000296097		CCDS1744.1			1	
RP2	0	LGGM	GRCh37	X	46713481	46713481	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000218340.3:c.673C>A	p.Arg225=	p.R225=	ENST00000218340	NM_006915.2	225	Cgg/Agg	0	1	1	UPI000000DA35	0		ENST00000218340		ENSG00000102218	10274		13			HGNC	p.R225R		RP2		SNV			1				ENST00000218340	protein_coding			hmmpanther:PTHR15440:SF0,hmmpanther:PTHR15440,PIRSF_domain:PIRSF037947		R		A		834/3803							YES	RP2,synonymous_variant,p.=,ENST00000218340,NM_006915.2;							LOW	673/1053		XRP2_HUMAN			Transcript			.	ENSP00000218340		CCDS14270.1			1	
USP53	0	LGGM	GRCh37	4	120192883	120192883	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	3	.	.	ENST00000450251.1:c.1868C>A	p.Pro623Gln	p.P623Q	ENST00000450251		623	cCg/cAg	0	1		UPI0000251D9D	0	NA	ENST00000274030		ENSG00000145390	29255		38	-1.1		HGNC	p.P623Q		USP53		SNV							ENST00000450251	protein_coding	getma.org/?cm=var&var=hg19,4,120192883,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22975,hmmpanther:PTHR22975:SF6		P/Q		A	neutral	3047/5936		getma.org/?cm=msa&ty=f&p=UBP53_HUMAN&rb=549&re=728&var=P623Q	tolerated(1)					USP53,missense_variant,p.Pro623Gln,ENST00000450251,;USP53,missense_variant,p.Pro623Gln,ENST00000274030,NM_019050.2;USP53,3_prime_UTR_variant,,ENST00000509769,;USP53,non_coding_transcript_exon_variant,,ENST00000510852,;USP53,downstream_gene_variant,,ENST00000507906,;							MODERATE	1868/3222	P623Q	UBP53_HUMAN			Transcript		benign(0)	.	ENSP00000274030		CCDS43265.1			1	
AGBL2	0	LGGM	GRCh37	11	47713796	47713796	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	3	.	.	ENST00000525123.1:c.707G>T	p.Gly236Val	p.G236V	ENST00000525123	NM_024783.3	236	gGt/gTt	0	1	1	UPI00001A95E3	0	NA	ENST00000525123		ENSG00000165923	26296		45	1.645		HGNC	p.G236V		AGBL2		SNV							ENST00000298861	protein_coding	getma.org/?cm=var&var=hg19,11,47713796,C,A&fts=all		hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF7		G/V		A	low	993/3577		getma.org/?cm=msa&ty=f&p=CBPC2_HUMAN&rb=142&re=341&var=G236V	deleterious(0.02)	E9PJH3_HUMAN,E9PI49_HUMAN			YES	AGBL2,missense_variant,p.Gly236Val,ENST00000525123,NM_024783.3;AGBL2,missense_variant,p.Gly236Val,ENST00000357610,;AGBL2,missense_variant,p.Gly236Val,ENST00000298861,;AGBL2,missense_variant,p.Gly198Val,ENST00000528244,;AGBL2,missense_variant,p.Gly180Val,ENST00000532595,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,non_coding_transcript_exon_variant,,ENST00000526331,;AGBL2,upstream_gene_variant,,ENST00000528609,;							MODERATE	707/2709	G236V	CBPC2_HUMAN			Transcript		benign(0.382)	.	ENSP00000435582		CCDS7944.1			1	
CCDC86	0	LGGM	GRCh37	11	60617690	60617690	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	3	.	.	ENST00000227520.5:c.975C>A	p.Pro325=	p.P325=	ENST00000227520	NM_024098.3	325	ccC/ccA	0	1	1	UPI000003DBBA	0		ENST00000227520		ENSG00000110104	28359		26			HGNC	p.P325P		CCDC86		SNV							ENST00000227520	protein_coding			hmmpanther:PTHR13557,hmmpanther:PTHR13557:SF1		P		A		1029/1893				B4DY99_HUMAN			YES	CCDC86,synonymous_variant,p.=,ENST00000227520,NM_024098.3;CCDC86,synonymous_variant,p.=,ENST00000545580,;PTGDR2,downstream_gene_variant,,ENST00000332539,NM_004778.2;RP11-804A23.4,intron_variant,,ENST00000538705,;CCDC86,3_prime_UTR_variant,,ENST00000535217,;							LOW	975/1083		CCD86_HUMAN			Transcript			.	ENSP00000227520		CCDS7993.1			1	
SCN11A	0	LGGM	GRCh37	3	38938354	38938354	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	3	.	.	ENST00000302328.3:c.2385G>T	p.Thr795=	p.T795=	ENST00000302328	NM_014139.2	795	acG/acT	0	1	1	UPI000006CCD7	0		ENST00000302328		ENSG00000168356	10583		37			HGNC	p.T795T		SCN11A		SNV			1				ENST00000444237	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		T		A		2584/6500							YES	SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000450244,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000444237,;SCN11A,synonymous_variant,p.=,ENST00000456224,;							LOW	2385/5376		SCNBA_HUMAN			Transcript			.	ENSP00000307599		CCDS33737.1			1	
NDST4	0	LGGM	GRCh37	4	115998170	115998170	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	3	.	.	ENST00000264363.2:c.23G>T	p.Arg8Leu	p.R8L	ENST00000264363	NM_022569.1	8	cGg/cTg	0	1	1	UPI000006CED7	0	NA	ENST00000264363		ENSG00000138653	20779		29	1.245		HGNC	p.R8L		NDST4		SNV							ENST00000264363	protein_coding	getma.org/?cm=var&var=hg19,4,115998170,C,A&fts=all				R/L		A	low	702/3351		getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=1&re=48&var=R8L	tolerated_low_confidence(0.31)				YES	NDST4,missense_variant,p.Arg8Leu,ENST00000264363,NM_022569.1;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;							MODERATE	23/2619	R8L	NDST4_HUMAN			Transcript		benign(0.187)	.	ENSP00000264363		CCDS3706.1			1	
SLC8A3	0	LGGM	GRCh37	14	70518747	70518747	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000381269.2:c.1991C>A	p.Pro664His	p.P664H	ENST00000381269	NM_183002.1	664	cCc/cAc	0	1	1	UPI0000073C9A	0	getma.org/pdb.php?prot=NAC3_HUMAN&from=620&to=762&var=P664H	ENST00000381269		ENSG00000100678	11070		16	1.59		HGNC	p.P664H		SLC8A3		SNV							ENST00000381269	protein_coding	getma.org/?cm=var&var=hg19,14,70518747,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF7,TIGRFAM_domain:TIGR00845,Superfamily_domains:SSF141072		P/H		T	low	2745/5268		getma.org/?cm=msa&ty=f&p=NAC3_HUMAN&rb=620&re=762&var=P664H	tolerated(0.23)	Q86TQ9_HUMAN			YES	SLC8A3,missense_variant,p.Pro664His,ENST00000381269,NM_183002.1,NM_058240.2;SLC8A3,missense_variant,p.Pro662His,ENST00000357887,NM_033262.3;SLC8A3,missense_variant,p.Pro658His,ENST00000356921,NM_182932.1;SLC8A3,missense_variant,p.Pro21His,ENST00000533541,;SLC8A3,missense_variant,p.Pro35His,ENST00000216568,NM_001130417.1;SLC8A3,missense_variant,p.Pro662His,ENST00000528359,;SLC8A3,missense_variant,p.Pro661His,ENST00000534137,;SLC8A3,missense_variant,p.Pro21His,ENST00000394330,NM_182936.1;SLC8A3,3_prime_UTR_variant,,ENST00000494208,;							MODERATE	1991/2784	P664H	NAC3_HUMAN			Transcript		possibly_damaging(0.593)	.	ENSP00000370669		CCDS35498.1			1	
C8orf33	0	LGGM	GRCh37	8	146278052	146278052	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000331434.6:c.87C>A	p.Pro29=	p.P29=	ENST00000331434	NM_023080.2	29	ccC/ccA	0	1	1	UPI0000070F82	0		ENST00000331434		ENSG00000182307	26104		23			HGNC	p.P29P	rs371372179	C8orf33		SNV	A:0						ENST00000331434	protein_coding			hmmpanther:PTHR13602,hmmpanther:PTHR13602:SF1		P	A:0.0001	A		201/2677	3.03E-05						YES	C8orf33,synonymous_variant,p.=,ENST00000331434,NM_023080.2;C8orf33,non_coding_transcript_exon_variant,,ENST00000530455,;C8orf33,non_coding_transcript_exon_variant,,ENST00000534350,;C8orf33,non_coding_transcript_exon_variant,,ENST00000524395,;C8orf33,intron_variant,,ENST00000529593,;AC139103.1,downstream_gene_variant,,ENST00000534696,;							LOW	87/690		CH033_HUMAN			Transcript			.	ENSP00000330361	1.65E-05	CCDS34974.1			1	
IMPDH1	0	LGGM	GRCh37	7	128049358	128049358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	3	.	.	ENST00000338791.6:c.239G>T	p.Arg80Leu	p.R80L	ENST00000338791	NM_000883.3	80	cGc/cTc	0	1		UPI00004575F8	0	NA	ENST00000470772		ENSG00000106348	6052		11	0	3362	HGNC	p.R80L		IMPDH1		SNV			1				ENST00000338791	protein_coding	getma.org/?cm=var&var=hg19,7,128049358,C,A&fts=all						A	neutral	-/1888		getma.org/?cm=msa&ty=f&p=C9JV30_HUMAN&rb=1&re=83&var=R80L		C9J381_HUMAN				IMPDH1,missense_variant,p.Arg80Leu,ENST00000338791,NM_000883.3;IMPDH1,missense_variant,p.Arg70Leu,ENST00000354269,NM_001102605.1;IMPDH1,missense_variant,p.Arg80Leu,ENST00000419067,NM_001142576.1;IMPDH1,intron_variant,,ENST00000348127,NM_183243.2;IMPDH1,intron_variant,,ENST00000343214,;IMPDH1,intron_variant,,ENST00000378717,;IMPDH1,intron_variant,,ENST00000497868,;IMPDH1,intron_variant,,ENST00000489263,;IMPDH1,upstream_gene_variant,,ENST00000496200,NM_001142575.1;IMPDH1,upstream_gene_variant,,ENST00000470772,NM_001142573.1;IMPDH1,upstream_gene_variant,,ENST00000480861,NM_001142574.1;IMPDH1,missense_variant,p.Arg32Leu,ENST00000484496,;IMPDH1,synonymous_variant,p.=,ENST00000473463,;IMPDH1,non_coding_transcript_exon_variant,,ENST00000491376,;IMPDH1,upstream_gene_variant,,ENST00000469328,;IMPDH1,upstream_gene_variant,,ENST00000496487,;							MODIFIER	-/1542	R80L				Transcript			.	ENSP00000417296					1	
FBXO10	0	LGGM	GRCh37	9	37537278	37537278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	3	3	.	.	ENST00000432825.2:c.1248G>T	p.Lys416Asn	p.K416N	ENST00000432825	NM_012166.2	416	aaG/aaT	0	1	1	UPI00001C1EC6	0	NA	ENST00000432825		ENSG00000147912	13589		6	0.345		HGNC	p.K416N		FBXO10		SNV							ENST00000276960	protein_coding	getma.org/?cm=var&var=hg19,9,37537278,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22990,SMART_domains:SM00722		K/N		A	neutral	1297/4575		getma.org/?cm=msa&ty=f&p=FBX10_HUMAN&rb=249&re=419&var=K416N	tolerated(0.15)	Q08AL4_HUMAN,F5GXN9_HUMAN			YES	FBXO10,missense_variant,p.Lys416Asn,ENST00000432825,NM_012166.2;FBXO10,intron_variant,,ENST00000541829,;FBXO10,downstream_gene_variant,,ENST00000541607,;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,;RP11-613M10.8,intron_variant,,ENST00000541804,;FBXO10,upstream_gene_variant,,ENST00000543968,;FBXO10,missense_variant,p.Lys416Asn,ENST00000276960,;RP11-613M10.8,downstream_gene_variant,,ENST00000537239,;							MODERATE	1248/2871	K416N	FBX10_HUMAN			Transcript		benign(0.015)	.	ENSP00000403802		CCDS47966.1			1	
CSMD1	0	LGGM	GRCh37	8	2944703	2944703	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	27	3	.	.	ENST00000537824.1:c.7390C>A	p.Arg2464=	p.R2464=	ENST00000537824	NM_033225.5	2464	Cga/Aga	0	1	1	UPI0001B723C6	0		ENST00000537824		ENSG00000183117	14026		30			HGNC	p.R2465R		CSMD1		SNV							ENST00000400186	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF323,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		R		T		7390/10695				F5GZ18_HUMAN			YES	CSMD1,synonymous_variant,p.=,ENST00000335551,;CSMD1,synonymous_variant,p.=,ENST00000520002,;CSMD1,synonymous_variant,p.=,ENST00000602557,;CSMD1,synonymous_variant,p.=,ENST00000400186,;CSMD1,synonymous_variant,p.=,ENST00000602723,;CSMD1,synonymous_variant,p.=,ENST00000537824,NM_033225.5;CSMD1,synonymous_variant,p.=,ENST00000542608,;							LOW	7390/10695					Transcript			.	ENSP00000441462		CCDS55189.1			1	
TANC2	0	LGGM	GRCh37	17	61489443	61489443	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	3	.	.	ENST00000424789.2:c.3628C>A	p.Arg1210=	p.R1210=	ENST00000424789	NM_025185.3	1210	Cgg/Agg	0	1	1	UPI00015D57DF	0		ENST00000424789		ENSG00000170921	30212		34			HGNC	p.R1210R		TANC2		SNV							ENST00000389520	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		R		A		3632/11721							YES	TANC2,synonymous_variant,p.=,ENST00000424789,NM_025185.3;TANC2,synonymous_variant,p.=,ENST00000583356,;TANC2,synonymous_variant,p.=,ENST00000389520,;RP11-269G24.3,intron_variant,,ENST00000583552,;AC015923.1,intron_variant,,ENST00000431604,;TANC2,upstream_gene_variant,,ENST00000579541,;							LOW	3628/5973		TANC2_HUMAN			Transcript			.	ENSP00000387593		CCDS45754.1			1	
MPP4	0	LGGM	GRCh37	2	202545713	202545713	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	3	.	.	ENST00000409474.3:c.777C>A	p.Pro259=	p.P259=	ENST00000409474	NM_033066.2	259	ccC/ccA	0	1	1	UPI000050A341	0		ENST00000409474		ENSG00000082126	13680		39			HGNC	p.P246P		MPP4		SNV							ENST00000315506	protein_coding			PROSITE_profiles:PS50002,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF34,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044		P		T		985/2462							YES	MPP4,synonymous_variant,p.=,ENST00000409474,NM_033066.2;MPP4,synonymous_variant,p.=,ENST00000359962,;MPP4,synonymous_variant,p.=,ENST00000315506,;MPP4,synonymous_variant,p.=,ENST00000428900,;MPP4,synonymous_variant,p.=,ENST00000396886,;MPP4,synonymous_variant,p.=,ENST00000409143,;MPP4,synonymous_variant,p.=,ENST00000447335,;MPP4,downstream_gene_variant,,ENST00000602867,;MPP4,synonymous_variant,p.=,ENST00000409818,;MPP4,non_coding_transcript_exon_variant,,ENST00000486212,;MPP4,non_coding_transcript_exon_variant,,ENST00000483841,;							LOW	777/1914		MPP4_HUMAN			Transcript			.	ENSP00000387278		CCDS46491.1			1	
OR10Z1	0	LGGM	GRCh37	1	158576700	158576700	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000361284.1:c.472G>T	p.Gly158Ter	p.G158*	ENST00000361284	NM_001004478.1	158	Gga/Tga	0	1	1	UPI000004CA23	0	NA	ENST00000361284		ENSG00000198967	14996		18	0		HGNC	p.G158X		OR10Z1		SNV							ENST00000361284	protein_coding	getma.org/?cm=var&var=hg19,1,158576700,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		G/*		T	NA	472/942		NA					YES	OR10Z1,stop_gained,p.Gly158Ter,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;							HIGH	472/942	G158*	O10Z1_HUMAN			Transcript			.	ENSP00000354707		CCDS30901.1			1	
KDM5B	0	LGGM	GRCh37	1	202702710	202702710	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	3	.	.	ENST00000367265.3:c.3728G>T	p.Arg1243Leu	p.R1243L	ENST00000367265	NM_006618.3	1243	cGa/cTa	0	1	1	UPI0000032AA2	0	NA	ENST00000367265		ENSG00000117139	18039		31	1.845		HGNC	p.R1243L		KDM5B		SNV							ENST00000367265	protein_coding	getma.org/?cm=var&var=hg19,1,202702710,C,A&fts=all		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF3		R/L		A	low	4893/7438		getma.org/?cm=msa&ty=f&p=KDM5B_HUMAN&rb=1225&re=1424&var=R1243L	tolerated(0.07)	Q9UIW7_HUMAN,Q9UFD3_HUMAN,Q9UFC7_HUMAN,Q9NSZ7_HUMAN,Q6UGB8_HUMAN,B3KV94_HUMAN,B3KMS8_HUMAN,B3KMS2_HUMAN			YES	KDM5B,missense_variant,p.Arg1243Leu,ENST00000367265,NM_006618.3;KDM5B,missense_variant,p.Arg1279Leu,ENST00000367264,;KDM5B,missense_variant,p.Arg1085Leu,ENST00000235790,;KDM5B,non_coding_transcript_exon_variant,,ENST00000472822,;KDM5B,upstream_gene_variant,,ENST00000491153,;							MODERATE	3728/4635	R1243L	KDM5B_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000356234		CCDS30974.1			1	
SLC12A3	0	LGGM	GRCh37	16	56906367	56906367	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	12	3	.	.	ENST00000438926.2:c.957C>A	p.Ser319Arg	p.S319R	ENST00000438926	NM_001126108.1	319	agC/agA	0	1		UPI00005782C2	0	NA	ENST00000563236		ENSG00000070915	10912		15	2.225		HGNC	p.S319R		SLC12A3		SNV			1				ENST00000563236	protein_coding	getma.org/?cm=var&var=hg19,16,56906367,C,A&fts=all		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF9,TIGRFAM_domain:TIGR00930		S/R		A	medium	982/4208		getma.org/?cm=msa&ty=f&p=S12A3_HUMAN&rb=141&re=647&var=S319R	deleterious(0.03)					SLC12A3,missense_variant,p.Ser319Arg,ENST00000438926,NM_001126108.1,NM_000339.2,NM_001126107.1;SLC12A3,missense_variant,p.Ser319Arg,ENST00000563236,;SLC12A3,missense_variant,p.Ser318Arg,ENST00000262502,;SLC12A3,missense_variant,p.Ser318Arg,ENST00000566786,;							MODERATE	957/3066	S319R	S12A3_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000456149		CCDS58464.1			1	
MVD	0	LGGM	GRCh37	16	88724396	88724396	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	19	3	.	.	ENST00000301012.3:c.183C>A	p.Thr61=	p.T61=	ENST00000301012	NM_002461.1	61	acC/acA	0	1	1	UPI000012A0C6	0		ENST00000301012		ENSG00000167508	7529		22			HGNC	p.T61T		MVD		SNV							ENST00000301012	protein_coding			Gene3D:3.30.230.10,PIRSF_domain:PIRSF015950,hmmpanther:PTHR10977,hmmpanther:PTHR10977:SF2,Superfamily_domains:SSF54211,TIGRFAM_domain:TIGR01240		T		T		213/1823							YES	MVD,synonymous_variant,p.=,ENST00000301012,NM_002461.1;MVD,synonymous_variant,p.=,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,synonymous_variant,p.=,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,;							LOW	183/1203		MVD1_HUMAN			Transcript			.	ENSP00000301012		CCDS10968.1			1	
CYP26B1	0	LGGM	GRCh37	2	72362394	72362394	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	3	.	.	ENST00000001146.2:c.584G>T	p.Arg195Leu	p.R195L	ENST00000001146	NM_019885.3	195	cGg/cTg	0	1	1	UPI000003DC62	0	getma.org/pdb.php?prot=CP26B_HUMAN&from=50&to=490&var=R195L	ENST00000001146		ENSG00000003137	20581		21	1.1		HGNC	p.R195L		CYP26B1		SNV			1				ENST00000001146	protein_coding	getma.org/?cm=var&var=hg19,2,72362394,C,A&fts=all		hmmpanther:PTHR24288,hmmpanther:PTHR24288:SF9,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		R/L		A	low	788/4732		getma.org/?cm=msa&ty=f&p=CP26B_HUMAN&rb=50&re=490&var=R195L	deleterious(0.02)	E7ER08_HUMAN			YES	CYP26B1,missense_variant,p.Arg195Leu,ENST00000001146,NM_019885.3;CYP26B1,missense_variant,p.Arg4Leu,ENST00000412253,;CYP26B1,missense_variant,p.Arg120Leu,ENST00000546307,NM_001277742.1;CYP26B1,missense_variant,p.Arg120Leu,ENST00000474509,;CYP26B1,downstream_gene_variant,,ENST00000461519,;							MODERATE	584/1539	R195L	CP26B_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000001146		CCDS1919.1			1	
RNF213	0	LGGM	GRCh37	17	78360587	78360587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000582970.1:c.14818C>A	p.Gln4940Lys	p.Q4940K	ENST00000582970	NM_001256071.1	4940	Cag/Aag	0	1	1	UPI0001D3BDB1	0	NA	ENST00000582970		ENSG00000173821	14539		13	1.95		HGNC	p.Q4989K		RNF213		SNV			1				ENST00000508628	protein_coding	getma.org/?cm=var&var=hg19,17,78360587,C,A&fts=all		hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		Q/K		A	medium	14961/21055		getma.org/?cm=msa&ty=f&p=RN213_HUMAN&rb=4909&re=5108&var=Q4940K		H3BLU6_HUMAN			YES	RNF213,missense_variant,p.Gln4940Lys,ENST00000582970,NM_001256071.1;RNF213,missense_variant,p.Gln4989Lys,ENST00000508628,;RNF213,missense_variant,p.Gln3013Lys,ENST00000336301,;CTD-2047H16.4,intron_variant,,ENST00000575034,;CTD-2047H16.4,intron_variant,,ENST00000572151,;CTD-2047H16.4,intron_variant,,ENST00000573394,;RNF213,non_coding_transcript_exon_variant,,ENST00000427003,;RNF213,non_coding_transcript_exon_variant,,ENST00000411702,;RNF213,non_coding_transcript_exon_variant,,ENST00000560083,;RNF213,downstream_gene_variant,,ENST00000558116,;RNF213,upstream_gene_variant,,ENST00000573919,;RNF213,downstream_gene_variant,,ENST00000570776,;							MODERATE	14818/15624	Q4940K	RN213_HUMAN			Transcript		benign(0.01)	.	ENSP00000464087		CCDS58606.1			1	
TNS1	0	LGGM	GRCh37	2	218682473	218682473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000171887.4:c.4270G>T	p.Gly1424Trp	p.G1424W	ENST00000171887	NM_022648.4	1424	Ggg/Tgg	0	1	1	UPI0000456EEB	0	NA	ENST00000171887		ENSG00000079308	11973		14	1.445		HGNC	p.G1411W		TNS1		SNV							ENST00000419504	protein_coding	getma.org/?cm=var&var=hg19,2,218682473,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40		G/W		A	low	4723/10331		getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=1307&re=1462&var=G1424W	deleterious(0)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN			YES	TNS1,missense_variant,p.Gly1424Trp,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Gly1411Trp,ENST00000419504,;TNS1,missense_variant,p.Gly1403Trp,ENST00000430930,;TNS1,missense_variant,p.Gly562Trp,ENST00000446688,;TNS1,upstream_gene_variant,,ENST00000490566,;TNS1,upstream_gene_variant,,ENST00000495556,;							MODERATE	4270/5208	G1424W	TENS1_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000171887		CCDS2407.1			1	
XDH	0	LGGM	GRCh37	2	31606694	31606694	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000379416.3:c.813G>T	p.Lys271Asn	p.K271N	ENST00000379416	NM_000379.3	271	aaG/aaT	0	1	1	UPI0000036BC9	0	getma.org/pdb.php?prot=XDH_HUMAN&from=232&to=412&var=K271N	ENST00000379416		ENSG00000158125	12805		14	3.005		HGNC	p.K271N	COSM1407737	XDH		SNV			1			1	ENST00000379416	protein_coding	getma.org/?cm=var&var=hg19,2,31606694,C,A&fts=all		Superfamily_domains:SSF56176,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,Gene3D:3.30.43.10,Pfam_domain:PF00941,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908,PROSITE_profiles:PS51387		K/N		A	medium	862/5688		getma.org/?cm=msa&ty=f&p=XDH_HUMAN&rb=232&re=412&var=K271N	deleterious(0.02)	Q585T6_HUMAN			YES	XDH,missense_variant,p.Lys271Asn,ENST00000379416,NM_000379.3;XDH,non_coding_transcript_exon_variant,,ENST00000491727,;XDH,non_coding_transcript_exon_variant,,ENST00000476043,;					1		MODERATE	813/4002	K271N	XDH_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000368727		CCDS1775.1			1	
SLC25A17	0	LGGM	GRCh37	22	41215214	41215214	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	3	.	.	ENST00000435456.2:c.39C>A	p.Ala13=	p.A13=	ENST00000435456	NM_006358.2	13	gcC/gcA	0	1	1	UPI0000049C3A	0		ENST00000435456		ENSG00000100372	10987		8			HGNC	p.A13A		SLC25A17		SNV							ENST00000434193	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF256,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00926		A		T		173/2262							YES	SLC25A17,synonymous_variant,p.=,ENST00000435456,NM_006358.2;SLC25A17,synonymous_variant,p.=,ENST00000542412,;SLC25A17,5_prime_UTR_variant,,ENST00000544408,;SLC25A17,5_prime_UTR_variant,,ENST00000434185,;SLC25A17,non_coding_transcript_exon_variant,,ENST00000491545,;SLC25A17,synonymous_variant,p.=,ENST00000263255,;SLC25A17,synonymous_variant,p.=,ENST00000447566,;SLC25A17,synonymous_variant,p.=,ENST00000420970,;SLC25A17,synonymous_variant,p.=,ENST00000458600,;SLC25A17,synonymous_variant,p.=,ENST00000427084,;SLC25A17,synonymous_variant,p.=,ENST00000430221,;SLC25A17,synonymous_variant,p.=,ENST00000426396,;SLC25A17,synonymous_variant,p.=,ENST00000434193,;SLC25A17,synonymous_variant,p.=,ENST00000443810,;SLC25A17,synonymous_variant,p.=,ENST00000412879,;SLC25A17,synonymous_variant,p.=,ENST00000449676,;							LOW	39/924		PM34_HUMAN			Transcript			.	ENSP00000390722		CCDS14005.1			1	
HEXDC	0	LGGM	GRCh37	17	80393679	80393679	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000337014.6:c.562C>A	p.Arg188=	p.R188=	ENST00000337014	NM_173620.2	188	Cgg/Agg	0	1		UPI0000D47C96	0		ENST00000327949		ENSG00000169660	26307		14			HGNC	p.R188R		HEXDC		SNV							ENST00000327949	protein_coding			hmmpanther:PTHR21040,hmmpanther:PTHR21040:SF6,Gene3D:3.20.20.80,Pfam_domain:PF00728,Superfamily_domains:SSF51445		R		A		573/1733				J3QLN1_HUMAN,J3KT84_HUMAN				HEXDC,synonymous_variant,p.=,ENST00000337014,NM_173620.2;HEXDC,synonymous_variant,p.=,ENST00000577944,;HEXDC,synonymous_variant,p.=,ENST00000327949,;HEXDC,synonymous_variant,p.=,ENST00000580235,;HEXDC,upstream_gene_variant,,ENST00000578130,;HEXDC,downstream_gene_variant,,ENST00000578632,;HEXDC,synonymous_variant,p.=,ENST00000582429,;HEXDC,3_prime_UTR_variant,,ENST00000582315,;HEXDC,3_prime_UTR_variant,,ENST00000578775,;HEXDC,upstream_gene_variant,,ENST00000585077,;HEXDC,upstream_gene_variant,,ENST00000582131,;HEXDC,upstream_gene_variant,,ENST00000578616,;HEXDC,upstream_gene_variant,,ENST00000583354,;HEXDC,downstream_gene_variant,,ENST00000581482,;							LOW	562/1461		HEXDC_HUMAN			Transcript			.	ENSP00000332634					1	
ZC3H7B	0	LGGM	GRCh37	22	41752746	41752746	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000352645.4:c.2615C>A	p.Thr872Lys	p.T872K	ENST00000352645	NM_017590.5	872	aCg/aAg	0	1	1	UPI000002B2AD	0	NA	ENST00000352645		ENSG00000100403	30869		20	1.1		HGNC	p.T872K	rs375561032	ZC3H7B	6.06E-05	SNV	T:0						ENST00000351589	protein_coding	getma.org/?cm=var&var=hg19,22,41752746,C,A&fts=all	A:0	hmmpanther:PTHR14928,hmmpanther:PTHR14928:SF6		T/K	T:0.0001	A	low	2872/5909		getma.org/?cm=msa&ty=f&p=Z3H7B_HUMAN&rb=714&re=903&var=T888K	tolerated(0.08)		A:0	A:0	YES	ZC3H7B,missense_variant,p.Thr872Lys,ENST00000352645,NM_017590.5;ZC3H7B,missense_variant,p.Thr872Lys,ENST00000351589,;		A:0.0002					MODERATE	2615/2934	T888K	Z3H7B_HUMAN		A:0	Transcript		possibly_damaging(0.875)	.	ENSP00000345793	8.24E-06	CCDS14013.1		A:0.001	1	
ADARB2	0	LGGM	GRCh37	10	1405931	1405931	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	12	3	.	.	ENST00000381312.1:c.369G>T	p.Ser123=	p.S123=	ENST00000381312	NM_018702.3	123	tcG/tcT	0	1	1	UPI0000071776	0		ENST00000381312		ENSG00000185736	227		15			HGNC	p.S123S		ADARB2		SNV							ENST00000381312	protein_coding			hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Superfamily_domains:SSF54768		S		A		695/3606				Q5VW43_HUMAN			YES	ADARB2,synonymous_variant,p.=,ENST00000381312,NM_018702.3;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;							LOW	369/2220		RED2_HUMAN			Transcript			.	ENSP00000370713		CCDS7058.1			1	
EPHX2	0	LGGM	GRCh37	8	27402020	27402020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	29	3	.	.	ENST00000521400.1:c.1649C>A	p.Pro550Gln	p.P550Q	ENST00000521400	NM_001979.5	550	cCg/cAg	0	1	1	UPI0000073FE5	0	getma.org/pdb.php?prot=HYES_HUMAN&from=541&to=555&var=P550Q	ENST00000521400		ENSG00000120915	3402		32	1.1		HGNC	p.P497Q		EPHX2		SNV							ENST00000380476	protein_coding	getma.org/?cm=var&var=hg19,8,27402020,C,A&fts=all				P/Q		A	low	2079/3140		getma.org/?cm=msa&ty=f&p=HYES_HUMAN&rb=511&re=555&var=P550Q	tolerated(0.06)	E5RI53_HUMAN			YES	EPHX2,missense_variant,p.Pro550Gln,ENST00000521400,NM_001979.5;EPHX2,missense_variant,p.Pro497Gln,ENST00000380476,NM_001256484.1,NM_001256482.1;EPHX2,missense_variant,p.Pro484Gln,ENST00000521780,NM_001256483.1;EPHX2,missense_variant,p.Pro518Gln,ENST00000518379,;EPHX2,missense_variant,p.Pro367Gln,ENST00000517536,;							MODERATE	1649/1668	P550Q	HYES_HUMAN			Transcript		benign(0.048)	.	ENSP00000430269		CCDS6060.1			1	
RGS3	0	LGGM	GRCh37	9	116285216	116285216	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	3	.	.	ENST00000374140.2:c.1765C>A	p.Leu589Met	p.L589M	ENST00000374140	NM_144488.5	589	Ctg/Atg	0	1		UPI00001C0F58	0	NA	ENST00000350696		ENSG00000138835	9999		34	1.905		HGNC	p.L589M		RGS3		SNV							ENST00000374140	protein_coding	getma.org/?cm=var&var=hg19,9,116285216,C,A&fts=all		Gene3D:2.30.29.30,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF4,Superfamily_domains:SSF50729		L/M		A	medium	1782/4398		getma.org/?cm=msa&ty=f&p=RGS3_HUMAN&rb=574&re=773&var=L589M	deleterious(0)	H7BXY1_HUMAN,C9J6G2_HUMAN				RGS3,missense_variant,p.Leu589Met,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,missense_variant,p.Leu589Met,ENST00000350696,;RGS3,missense_variant,p.Leu308Met,ENST00000343817,NM_130795.3;RGS3,missense_variant,p.Leu308Met,ENST00000394646,NM_001276261.1;RGS3,missense_variant,p.Leu477Met,ENST00000317613,NM_017790.4;RGS3,missense_variant,p.Leu215Met,ENST00000374136,;RGS3,missense_variant,p.Leu44Met,ENST00000496113,;RGS3,non_coding_transcript_exon_variant,,ENST00000496264,;RGS3,non_coding_transcript_exon_variant,,ENST00000470775,;RGS3,non_coding_transcript_exon_variant,,ENST00000478599,;RGS3,non_coding_transcript_exon_variant,,ENST00000460000,;							MODERATE	1765/3597	L589M	RGS3_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000259406		CCDS43869.1			1	
BMP8A	0	LGGM	GRCh37	1	39988095	39988095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000331593.5:c.889G>T	p.Gly297Cys	p.G297C	ENST00000331593	NM_181809.3	297	Ggc/Tgc	0	1	1	UPI00002057D6	0	NA	ENST00000331593		ENSG00000183682	21650		18	1.39		HGNC	p.G297C		BMP8A		SNV							ENST00000331593	protein_coding	getma.org/?cm=var&var=hg19,1,39988095,G,T&fts=all		Gene3D:2.10.90.10,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF119,Superfamily_domains:SSF57501		G/C		T	low	1235/1692		getma.org/?cm=msa&ty=f&p=BMP8A_HUMAN&rb=252&re=297&var=G297C	tolerated(0.1)				YES	BMP8A,missense_variant,p.Gly297Cys,ENST00000331593,NM_181809.3;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000331856,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000458207,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000440190,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000450157,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000431553,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000441741,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000417869,;							MODERATE	889/1209	G297C	BMP8A_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000327440		CCDS437.1			1	
MYH10	0	LGGM	GRCh37	17	8381736	8381736	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000360416.3:c.5626C>A	p.Arg1876Ser	p.R1876S	ENST00000360416	NM_001256012.1	1876	Cgt/Agt	0	1		UPI000020093B	0	NA	ENST00000269243		ENSG00000133026	7568		20	3.09		HGNC	p.R1845S		MYH10		SNV							ENST00000269243	protein_coding	getma.org/?cm=var&var=hg19,17,8381736,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Pfam_domain:PF01576		R/S		T	medium	5672/7662		getma.org/?cm=msa&ty=f&p=MYH10_HUMAN&rb=1073&re=1930&var=R1845S		Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN				MYH10,missense_variant,p.Arg1876Ser,ENST00000360416,NM_001256012.1;MYH10,missense_variant,p.Arg1866Ser,ENST00000396239,;MYH10,missense_variant,p.Arg1861Ser,ENST00000379980,NM_001256095.1;MYH10,missense_variant,p.Arg1845Ser,ENST00000269243,NM_005964.3;NDEL1,intron_variant,,ENST00000299734,;NDEL1,intron_variant,,ENST00000581679,;MYH10,non_coding_transcript_exon_variant,,ENST00000476737,;							MODERATE	5533/5931	R1845S	MYH10_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000269243		CCDS11144.1			1	
PCDHA13	0	LGGM	GRCh37	5	140263789	140263789	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	3	.	.	ENST00000289272.2:c.1936C>A	p.Arg646Ser	p.R646S	ENST00000289272	NM_018904.2	646	Cgc/Agc	0	1	1	UPI00001273D6	0	getma.org/pdb.php?prot=PCDAD_HUMAN&from=579&to=670&var=R646S	ENST00000289272		ENSG00000239389	8667		28	1.345		HGNC	p.R646S		PCDHA13		SNV							ENST00000409494	protein_coding	getma.org/?cm=var&var=hg19,5,140263789,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/S		A	low	1936/5260		getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=579&re=670&var=R646S	tolerated_low_confidence(0.08)				YES	PCDHA13,missense_variant,p.Arg646Ser,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Arg646Ser,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,;							MODERATE	1936/2853	R646S	PCDAD_HUMAN			Transcript		benign(0.214)	.	ENSP00000289272		CCDS4240.1			1	
ADCY2	0	LGGM	GRCh37	5	7789868	7789868	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	3	.	.	ENST00000338316.4:c.2583C>A	p.Pro861=	p.P861=	ENST00000338316	NM_020546.2	861	ccC/ccA	0	1	1	UPI000066D9F2	0		ENST00000338316		ENSG00000078295	233		35			HGNC	p.P861P	COSM301637	ADCY2		SNV						1	ENST00000338316	protein_coding			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044		P		A		2672/6575				Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN			YES	ADCY2,synonymous_variant,p.=,ENST00000338316,NM_020546.2;ADCY2,synonymous_variant,p.=,ENST00000537121,;ADCY2,non_coding_transcript_exon_variant,,ENST00000382531,;ADCY2,missense_variant,p.Arg73Ser,ENST00000493243,;ADCY2,upstream_gene_variant,,ENST00000489501,;					1		LOW	2583/3276		ADCY2_HUMAN			Transcript			.	ENSP00000342952		CCDS3872.2			1	
FAM47A	0	LGGM	GRCh37	X	34150357	34150357	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	3	.	.	ENST00000346193.3:c.39G>T	p.Pro13=	p.P13=	ENST00000346193	NM_203408.3	13	ccG/ccT	0	1	1	UPI000013F1F4	0		ENST00000346193		ENSG00000185448	29962		11			HGNC	p.P13P		FAM47A		SNV							ENST00000346193	protein_coding			hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642		P		A		91/2579							YES	FAM47A,synonymous_variant,p.=,ENST00000346193,NM_203408.3;							LOW	39/2376		FA47A_HUMAN			Transcript			.	ENSP00000345029		CCDS43926.1			1	
TMEM44	0	LGGM	GRCh37	3	194309290	194309290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	44	3	.	.	ENST00000392432.2:c.1396G>T	p.Val466Leu	p.V466L	ENST00000392432	NM_001166305.1	466	Gtg/Ttg	0	1	1	UPI00015E0940	0	NA	ENST00000392432		ENSG00000145014	25120		47	0.345		HGNC	p.V430L		TMEM44		SNV							ENST00000273580	protein_coding	getma.org/?cm=var&var=hg19,3,194309290,C,A&fts=all				V/L		A	neutral	1602/2490		getma.org/?cm=msa&ty=f&p=TMM44_HUMAN&rb=435&re=475&var=V466L	tolerated_low_confidence(1)	Q96I73_HUMAN			YES	TMEM44,missense_variant,p.Val466Leu,ENST00000392432,NM_001166305.1;TMEM44,missense_variant,p.Val430Leu,ENST00000273580,NM_138399.4;TMEM44,missense_variant,p.Val419Leu,ENST00000347147,NM_001011655.2,NM_001166306.1;TMEM44,missense_variant,p.Val429Leu,ENST00000473092,;TMEM44,missense_variant,p.Val188Leu,ENST00000432352,;TMEM44,missense_variant,p.Val252Leu,ENST00000452358,;TMEM44,3_prime_UTR_variant,,ENST00000381975,;TMEM44,3_prime_UTR_variant,,ENST00000429560,;TMEM44-AS1,intron_variant,,ENST00000453671,;TMEM44-AS1,intron_variant,,ENST00000447982,;TMEM44-AS1,intron_variant,,ENST00000419571,;TMEM44,non_coding_transcript_exon_variant,,ENST00000476750,;TMEM44,non_coding_transcript_exon_variant,,ENST00000477651,;TMEM44,downstream_gene_variant,,ENST00000419280,;							MODERATE	1396/1428	V466L	TMM44_HUMAN			Transcript		benign(0.198)	.	ENSP00000376227		CCDS54699.1			1	
PXDN	0	LGGM	GRCh37	2	1653269	1653269	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	3	.	.	ENST00000252804.4:c.2283C>A	p.Thr761=	p.T761=	ENST00000252804	NM_012293.1	761	acC/acA	0	1	1	UPI00001C1DC2	0		ENST00000252804		ENSG00000130508	14966		25			HGNC	p.T761T		PXDN		SNV			1				ENST00000252804	protein_coding			PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		T		T		2334/6808							YES	PXDN,synonymous_variant,p.=,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000465809,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000493779,;PXDN,intron_variant,,ENST00000478155,;							LOW	2283/4440		PXDN_HUMAN			Transcript			.	ENSP00000252804		CCDS46221.1			1	
CCR10	0	LGGM	GRCh37	17	40832592	40832592	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	3	.	.	ENST00000332438.4:c.68C>A	p.Ser23Ter	p.S23*	ENST00000332438	NM_016602.2	23	tCg/tAg	0	1	1	UPI0000212EE9	0	NA	ENST00000332438		ENSG00000184451	4474		17	0		HGNC	p.S23X		CCR10		SNV							ENST00000332438	protein_coding	getma.org/?cm=var&var=hg19,17,40832592,G,T&fts=all		hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF72,Prints_domain:PR01557		S/*		T	NA	88/1773		NA		K7ER70_HUMAN,K7EPC9_HUMAN			YES	CCR10,stop_gained,p.Ser23Ter,ENST00000332438,NM_016602.2;CCR10,5_prime_UTR_variant,,ENST00000591765,;CCR10,5_prime_UTR_variant,,ENST00000591568,;CNTNAP1,upstream_gene_variant,,ENST00000264638,NM_003632.2;PLEKHH3,upstream_gene_variant,,ENST00000293349,;PLEKHH3,upstream_gene_variant,,ENST00000591022,NM_024927.4;PLEKHH3,upstream_gene_variant,,ENST00000412503,;PLEKHH3,upstream_gene_variant,,ENST00000587627,;CTD-3193K9.4,intron_variant,,ENST00000593139,;CTD-3193K9.3,downstream_gene_variant,,ENST00000592440,;PLEKHH3,upstream_gene_variant,,ENST00000456950,;PLEKHH3,upstream_gene_variant,,ENST00000591544,;CNTNAP1,upstream_gene_variant,,ENST00000591662,;PLEKHH3,upstream_gene_variant,,ENST00000591490,;PLEKHH3,upstream_gene_variant,,ENST00000591196,;							HIGH	68/1089	S23*	CCR10_HUMAN			Transcript			.	ENSP00000332504		CCDS11435.1			1	
EMP2	0	LGGM	GRCh37	16	10626848	10626848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	3	.	.	ENST00000359543.3:c.418G>T	p.Gly140Cys	p.G140C	ENST00000359543	NM_001424.4	140	Ggc/Tgc	0	1	1	UPI0000129EAA	0	NA	ENST00000359543		ENSG00000213853	3334		39	3.005		HGNC	p.G140C		EMP2		SNV			1				ENST00000536829	protein_coding	getma.org/?cm=var&var=hg19,16,10626848,C,A&fts=all		Pfam_domain:PF00822,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF32		G/C		A	medium	628/5197		getma.org/?cm=msa&ty=f&p=EMP2_HUMAN&rb=1&re=160&var=G140C	deleterious(0)				YES	EMP2,missense_variant,p.Gly140Cys,ENST00000359543,NM_001424.4;EMP2,missense_variant,p.Gly140Cys,ENST00000536829,;RP11-27M24.3,upstream_gene_variant,,ENST00000566787,;RP11-27M24.1,downstream_gene_variant,,ENST00000535363,;EMP2,upstream_gene_variant,,ENST00000566033,;							MODERATE	418/504	G140C	EMP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352540		CCDS10541.1			1	
FARSA	0	LGGM	GRCh37	19	13041234	13041234	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	3	.	.	ENST00000314606.4:c.384+9C>A		*128*	ENST00000314606	NM_004461.2			0	1	1	UPI0000136413	0		ENST00000314606		ENSG00000179115	3592		16			HGNC	p.S131S	COSM1611603	FARSA		SNV						1	ENST00000587981	protein_coding							T		-/1814				Q6IBR2_HUMAN			YES	FARSA,synonymous_variant,p.=,ENST00000587981,;FARSA,intron_variant,,ENST00000588025,;FARSA,intron_variant,,ENST00000314606,NM_004461.2;FARSA,intron_variant,,ENST00000423140,;FARSA,intron_variant,,ENST00000593021,;FARSA,upstream_gene_variant,,ENST00000587488,;CTC-425F1.2,upstream_gene_variant,,ENST00000592636,;FARSA,intron_variant,,ENST00000588965,;FARSA,intron_variant,,ENST00000586146,;FARSA,intron_variant,,ENST00000592662,;FARSA,intron_variant,,ENST00000586280,;					1		MODIFIER	-/1527		SYFA_HUMAN			Transcript			.	ENSP00000320309		CCDS12287.1			1	
ARRDC2	0	LGGM	GRCh37	19	18120614	18120614	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	3	.	.	ENST00000222250.4:c.615C>A	p.Ala205=	p.A205=	ENST00000222250	NM_015683.1	205	gcC/gcA	0	1	1	UPI000003F083	0		ENST00000222250		ENSG00000105643	25225		17			HGNC	p.A200A		ARRDC2		SNV							ENST00000379656	protein_coding			Gene3D:1g4mB02,Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF48,SMART_domains:SM01017,Superfamily_domains:SSF81296		A		A		758/2503							YES	ARRDC2,synonymous_variant,p.=,ENST00000379656,NM_001025604.1;ARRDC2,synonymous_variant,p.=,ENST00000222250,NM_015683.1,NM_001286826.1;ARRDC2,synonymous_variant,p.=,ENST00000593560,;ARRDC2,5_prime_UTR_variant,,ENST00000595712,;ARRDC2,non_coding_transcript_exon_variant,,ENST00000608009,;ARRDC2,downstream_gene_variant,,ENST00000600788,;ARRDC2,non_coding_transcript_exon_variant,,ENST00000593460,;ARRDC2,non_coding_transcript_exon_variant,,ENST00000594411,;ARRDC2,downstream_gene_variant,,ENST00000596105,;							LOW	615/1224		ARRD2_HUMAN			Transcript			.	ENSP00000222250		CCDS12370.1			1	
SDCCAG3	0	LGGM	GRCh37	9	139301974	139301974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	3	.	.	ENST00000357365.3:c.442C>A	p.Pro148Thr	p.P148T	ENST00000357365	NM_001039707.1	148	Cca/Aca	0	1	1	UPI00006C511A	0	NA	ENST00000357365		ENSG00000165689	10667		8	1.7		HGNC	p.P75T		SDCCAG3		SNV							ENST00000371725	protein_coding	getma.org/?cm=var&var=hg19,9,139301974,G,T&fts=all		hmmpanther:PTHR31259		P/T		T	low	572/2301		getma.org/?cm=msa&ty=f&p=SDCG3_HUMAN&rb=1&re=359&var=P148T	tolerated(0.18)				YES	SDCCAG3,missense_variant,p.Pro125Thr,ENST00000298537,NM_006643.3;SDCCAG3,missense_variant,p.Pro148Thr,ENST00000357365,NM_001039707.1;SDCCAG3,missense_variant,p.Pro75Thr,ENST00000371725,NM_001039708.1;SDCCAG3,missense_variant,p.Pro98Thr,ENST00000371723,;PMPCA,upstream_gene_variant,,ENST00000371717,NM_015160.1,NM_001282946.1;PMPCA,upstream_gene_variant,,ENST00000399219,NM_001282944.1;PMPCA,upstream_gene_variant,,ENST00000371720,;SDCCAG3,upstream_gene_variant,,ENST00000417512,;SDCCAG3,downstream_gene_variant,,ENST00000446833,;SDCCAG3,non_coding_transcript_exon_variant,,ENST00000468963,;SDCCAG3,upstream_gene_variant,,ENST00000461693,;SDCCAG3,upstream_gene_variant,,ENST00000486441,;SDCCAG3,upstream_gene_variant,,ENST00000466579,;SDCCAG3,upstream_gene_variant,,ENST00000481114,;							MODERATE	442/1308	P148T	SDCG3_HUMAN			Transcript		benign(0.06)	.	ENSP00000349929		CCDS43904.1			1	
UNC80	0	LGGM	GRCh37	2	210841639	210841639	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000439458.1:c.8577G>T	p.Leu2859=	p.L2859=	ENST00000439458	NM_032504.1	2859	ctG/ctT	0	1	1	UPI00017E10C9	0		ENST00000439458		ENSG00000144406	26582		18			HGNC	p.L2859L		UNC80		SNV							ENST00000439458	protein_coding			hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		L		T		8657/13562							YES	UNC80,splice_region_variant,p.=,ENST00000439458,NM_032504.1;UNC80,splice_region_variant,p.=,ENST00000272845,NM_182587.3;UNC80,splice_region_variant,p.=,ENST00000333907,;UNC80,splice_region_variant,p.=,ENST00000539183,;UNC80,splice_region_variant,,ENST00000477924,;							LOW	8577/9777		UNC80_HUMAN			Transcript			.	ENSP00000391088		CCDS46504.1			1	
PLEKHH1	0	LGGM	GRCh37	14	68024132	68024132	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	3	.	.	ENST00000329153.5:c.336G>T	p.Lys112Asn	p.K112N	ENST00000329153	NM_020715.2	112	aaG/aaT	0	1	1	UPI00001C1F64	0	NA	ENST00000329153		ENSG00000054690	17733		25	1.935		HGNC	p.K112N		PLEKHH1		SNV							ENST00000329153	protein_coding	getma.org/?cm=var&var=hg19,14,68024132,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903		K/N		T	medium	468/6604		getma.org/?cm=msa&ty=f&p=PKHH1_HUMAN&rb=1&re=575&var=K112N	deleterious(0.01)	B3KWD2_HUMAN			YES	PLEKHH1,missense_variant,p.Lys112Asn,ENST00000329153,NM_020715.2;							MODERATE	336/4095	K112N	PKHH1_HUMAN			Transcript		possibly_damaging(0.623)	.	ENSP00000330278		CCDS45128.1			1	
LAMA3	0	LGGM	GRCh37	18	21426363	21426363	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	3	.	.	ENST00000313654.9:c.3822C>A	p.Thr1274=	p.T1274=	ENST00000313654	NM_198129.1	1274	acC/acA	0	1	1	UPI00001C1222	0		ENST00000313654		ENSG00000053747	6483		37			HGNC	p.T1274T		LAMA3		SNV			1				ENST00000399516	protein_coding			PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Pfam_domain:PF00053,Gene3D:2.10.25.10,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196		T		A		4063/10661				B0YJ32_HUMAN			YES	LAMA3,synonymous_variant,p.=,ENST00000313654,NM_198129.1;LAMA3,synonymous_variant,p.=,ENST00000399516,NM_001127717.1;							LOW	3822/10002		LAMA3_HUMAN			Transcript			.	ENSP00000324532		CCDS42419.1			1	
ZSCAN1	0	LGGM	GRCh37	19	58563978	58563978	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	7	3	.	.	ENST00000282326.1:c.586C>A	p.Arg196Ser	p.R196S	ENST00000282326	NM_182572.3	196	Cgc/Agc	0	1	1	UPI000013DCD2	0	NA	ENST00000282326		ENSG00000152467	23712		10	0.345		HGNC	p.R196S		ZSCAN1		SNV							ENST00000282326	protein_coding	getma.org/?cm=var&var=hg19,19,58563978,C,A&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF187		R/S		A	neutral	833/2054		getma.org/?cm=msa&ty=f&p=ZSCA1_HUMAN&rb=127&re=239&var=R196S	tolerated(0.3)				YES	ZSCAN1,missense_variant,p.Arg196Ser,ENST00000282326,NM_182572.3;HNRNPDLP4,upstream_gene_variant,,ENST00000605144,;							MODERATE	586/1227	R196S	ZSCA1_HUMAN			Transcript		benign(0.002)	.	ENSP00000282326		CCDS12969.1			1	
CELF3	0	LGGM	GRCh37	1	151688365	151688365	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	19	3	.	.	ENST00000290583.4:c.132C>A	p.Thr44=	p.T44=	ENST00000290583	NM_001172648.1	44	acC/acA	0	1	1	UPI000013F059	0		ENST00000290583		ENSG00000159409	11967		22			HGNC	p.T44T		CELF3		SNV							ENST00000290583	protein_coding			PROSITE_profiles:PS50102,hmmpanther:PTHR24622:SF169,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		T		T		926/3246				Q8IZ97_HUMAN			YES	CELF3,synonymous_variant,p.=,ENST00000290583,NM_001172648.1,NM_007185.4;CELF3,synonymous_variant,p.=,ENST00000420342,;CELF3,synonymous_variant,p.=,ENST00000290585,NM_001172649.1;RIIAD1,intron_variant,,ENST00000326413,;AL589765.1,intron_variant,,ENST00000442233,;CELF3,non_coding_transcript_exon_variant,,ENST00000478829,;CELF3,non_coding_transcript_exon_variant,,ENST00000479893,;							LOW	132/1398		CELF3_HUMAN			Transcript			.	ENSP00000290583		CCDS1002.1			1	
LMO7	0	LGGM	GRCh37	13	76395650	76395650	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	3	.	.	ENST00000465261.2:c.1846C>A	p.Arg616=	p.R616=	ENST00000465261	NM_015842.2	616	Cgg/Agg	0	1	1	UPI0001929501	0		ENST00000465261		ENSG00000136153	6646		29			HGNC	p.R616R		LMO7		SNV							ENST00000465261	protein_coding			hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF4		R		A		2606/5580				E9PRJ0_HUMAN,E9PLH4_HUMAN			YES	LMO7,synonymous_variant,p.=,ENST00000357063,;LMO7,synonymous_variant,p.=,ENST00000377534,;LMO7,synonymous_variant,p.=,ENST00000341547,NM_005358.5;LMO7,synonymous_variant,p.=,ENST00000321797,;LMO7,synonymous_variant,p.=,ENST00000465261,NM_015842.2;LMO7,synonymous_variant,p.=,ENST00000526202,;LMO7,synonymous_variant,p.=,ENST00000377499,;LMO7,synonymous_variant,p.=,ENST00000447038,;LMO7,downstream_gene_variant,,ENST00000497947,;LMO7,upstream_gene_variant,,ENST00000524651,;LMO7,downstream_gene_variant,,ENST00000525373,;LMO7,downstream_gene_variant,,ENST00000489941,;LMO7,upstream_gene_variant,,ENST00000485987,;LMO7,downstream_gene_variant,,ENST00000532785,;LMO7,downstream_gene_variant,,ENST00000532377,;							LOW	1846/4158					Transcript			.	ENSP00000433352		CCDS53876.1			1	
B4GALNT1	0	LGGM	GRCh37	12	58024278	58024278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000341156.4:c.514G>T	p.Gly172Cys	p.G172C	ENST00000341156	NM_001478.4	172	Ggt/Tgt	0	1	1	UPI0000126DD5	0	NA	ENST00000341156		ENSG00000135454	4117		13	1.1		HGNC	p.G172C		B4GALNT1		SNV			1				ENST00000550764	protein_coding	getma.org/?cm=var&var=hg19,12,58024278,C,A&fts=all		hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474		G/C		A	low	1099/3036		getma.org/?cm=msa&ty=f&p=B4GN1_HUMAN&rb=1&re=200&var=G172C	deleterious(0.01)	F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN			YES	B4GALNT1,missense_variant,p.Gly172Cys,ENST00000341156,NM_001478.4;B4GALNT1,missense_variant,p.Gly172Cys,ENST00000550764,NM_001276469.1;B4GALNT1,missense_variant,p.Gly117Cys,ENST00000418555,NM_001276468.1;B4GALNT1,missense_variant,p.Gly172Cys,ENST00000552350,;B4GALNT1,missense_variant,p.Gly172Cys,ENST00000449184,;B4GALNT1,missense_variant,p.Gly172Cys,ENST00000548888,;SLC26A10,downstream_gene_variant,,ENST00000379218,;SLC26A10,downstream_gene_variant,,ENST00000320442,NM_133489.2;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,missense_variant,p.Gly45Cys,ENST00000549391,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,intron_variant,,ENST00000552798,;B4GALNT1,upstream_gene_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,;							MODERATE	514/1602	G172C	B4GN1_HUMAN			Transcript		benign(0.417)	.	ENSP00000341562		CCDS8950.1			1	
TPST2	0	LGGM	GRCh37	22	26932363	26932363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000338754.4:c.932G>T	p.Arg311Leu	p.R311L	ENST00000338754	NM_003595.3	311	cGg/cTg	0	1	1	UPI0000000C23	0	getma.org/pdb.php?prot=TPST2_HUMAN&from=264&to=377&var=R311L	ENST00000338754		ENSG00000128294	12021		24	1.905		HGNC	p.R311L		TPST2		SNV							ENST00000398110	protein_coding	getma.org/?cm=var&var=hg19,22,26932363,C,A&fts=all		hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF5,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		R/L		A	medium	1203/2188		getma.org/?cm=msa&ty=f&p=TPST2_HUMAN&rb=264&re=377&var=R311L	deleterious(0.04)	B7Z976_HUMAN,B1AHK0_HUMAN,B1AHJ9_HUMAN,B1AHJ8_HUMAN,B1AHJ7_HUMAN,B1AHJ6_HUMAN			YES	TPST2,missense_variant,p.Arg311Leu,ENST00000338754,NM_003595.3;TPST2,missense_variant,p.Arg311Leu,ENST00000403880,;TPST2,missense_variant,p.Arg311Leu,ENST00000398110,NM_001008566.1;TPST2,missense_variant,p.Arg58Leu,ENST00000445720,;TPST2,downstream_gene_variant,,ENST00000442495,;TPST2,downstream_gene_variant,,ENST00000454778,;							MODERATE	932/1134	R311L	TPST2_HUMAN			Transcript		benign(0.066)	.	ENSP00000339813		CCDS13839.1			1	
PLCD1	0	LGGM	GRCh37	3	38049534	38049534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000463876.1:c.2219G>T	p.Ser740Ile	p.S740I	ENST00000463876	NM_001130964.1	740	aGt/aTt	0	1		UPI00001D6EE1	0	getma.org/pdb.php?prot=PLCD1_HUMAN&from=631&to=720&var=S719I	ENST00000334661		ENSG00000187091	9060		20	0.69		HGNC	p.S719I		PLCD1		SNV			1				ENST00000334661	protein_coding	getma.org/?cm=var&var=hg19,3,38049534,C,A&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF80,SMART_domains:SM00239,Superfamily_domains:SSF49562		S/I		A	neutral	2379/2769		getma.org/?cm=msa&ty=f&p=PLCD1_HUMAN&rb=631&re=720&var=S719I	deleterious(0)					PLCD1,missense_variant,p.Ser740Ile,ENST00000463876,NM_001130964.1;PLCD1,missense_variant,p.Ser719Ile,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,,ENST00000417185,;VILL,downstream_gene_variant,,ENST00000486616,;PLCD1,downstream_gene_variant,,ENST00000484829,;VILL,downstream_gene_variant,,ENST00000463080,;PLCD1,downstream_gene_variant,,ENST00000495367,;VILL,downstream_gene_variant,,ENST00000488209,;PLCD1,downstream_gene_variant,,ENST00000495395,;							MODERATE	2156/2271	S719I	PLCD1_HUMAN			Transcript		benign(0.219)	.	ENSP00000335600		CCDS2671.1			1	
GPR139	0	LGGM	GRCh37	16	20043450	20043450	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	3	.	.	ENST00000570682.1:c.669G>C	p.Thr223=	p.T223=	ENST00000570682	NM_001002911.2	223	acG/acC	0	1	1	UPI000004C566	0		ENST00000570682		ENSG00000180269	19995		29			HGNC	p.T223T	rs755708269	GPR139		SNV							ENST00000570682	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR22751:SF49,hmmpanther:PTHR22751,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		T		G		970/1613	3.00E-05						YES	GPR139,synonymous_variant,p.=,ENST00000570682,NM_001002911.2;GPR139,3_prime_UTR_variant,,ENST00000326571,;							LOW	669/1062		GP139_HUMAN			Transcript			.	ENSP00000458791	1.65E-05	CCDS32398.1			1	
ZNF792	0	LGGM	GRCh37	19	35449171	35449171	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	3	.	.	ENST00000404801.1:c.1588G>T	p.Gly530Cys	p.G530C	ENST00000404801	NM_175872.4	530	Ggc/Tgc	0	1	1	UPI0000202090	0	getma.org/pdb.php?prot=ZN792_HUMAN&from=520&to=545&var=G530C	ENST00000404801		ENSG00000180884	24751		35	3.025		HGNC	p.G530C		ZNF792		SNV							ENST00000404801	protein_coding	getma.org/?cm=var&var=hg19,19,35449171,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF187,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/C		A	medium	1975/3888		getma.org/?cm=msa&ty=f&p=ZN792_HUMAN&rb=500&re=565&var=G530C	deleterious(0)	S4R3B8_HUMAN			YES	ZNF792,missense_variant,p.Gly530Cys,ENST00000404801,NM_175872.4;ZNF792,missense_variant,p.Gly463Cys,ENST00000605484,;							MODERATE	1588/1899	G530C	ZN792_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000385099		CCDS12440.2			1	
BAK1	0	LGGM	GRCh37	6	33543670	33543670	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	3	.	.	ENST00000374467.3:c.106C>A	p.Arg36Ser	p.R36S	ENST00000374467	NM_001188.3	36	Cgc/Agc	0	1	1	UPI0000126777	0	getma.org/pdb.php?prot=BAK_HUMAN&from=1&to=77&var=R36S	ENST00000374467		ENSG00000030110	949		40	1.845		HGNC	p.R36S		BAK1		SNV							ENST00000360661	protein_coding	getma.org/?cm=var&var=hg19,6,33543670,G,T&fts=all		Superfamily_domains:SSF56854,Gene3D:1.10.437.10,hmmpanther:PTHR11256:SF41,hmmpanther:PTHR11256		R/S		T	low	355/2136		getma.org/?cm=msa&ty=f&p=BAK_HUMAN&rb=1&re=77&var=R36S	deleterious(0.02)	Q8NFF3_HUMAN,Q5HCI0_HUMAN,B3KRK7_HUMAN			YES	BAK1,missense_variant,p.Arg36Ser,ENST00000374467,NM_001188.3;BAK1,missense_variant,p.Arg36Ser,ENST00000442998,;BAK1,missense_variant,p.Arg36Ser,ENST00000360661,;							MODERATE	106/636	R36S	BAK_HUMAN			Transcript		benign(0.133)	.	ENSP00000363591		CCDS4781.1			1	
KRTAP10-6	0	LGGM	GRCh37	21	46011315	46011315	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	3	.	.	ENST00000400368.1:c.1051C>A	p.Arg351Ser	p.R351S	ENST00000400368	NM_198688.2	351	Cgc/Agc	0	1	1	UPI0000E5A408	0	NA	ENST00000400368		ENSG00000188155	20523		29	2.215		HGNC	p.R351S		KRTAP10-6		SNV							ENST00000400368	protein_coding	getma.org/?cm=var&var=hg19,21,46011315,G,T&fts=all		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF18		R/S		T	medium	1072/1238		getma.org/?cm=msa&ty=f&p=KR106_HUMAN&rb=328&re=365&var=R351S	deleterious(0.02)				YES	KRTAP10-6,missense_variant,p.Arg351Ser,ENST00000400368,NM_198688.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;							MODERATE	1051/1098	R351S	KR106_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000383219		CCDS42959.1			1	
KCNJ14	0	LGGM	GRCh37	19	48965309	48965309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	2	3	.	.	ENST00000391884.1:c.328C>A	p.Leu110Ile	p.L110I	ENST00000391884		110	Ctc/Atc	0	1		UPI000003E7B4	0	getma.org/pdb.php?prot=IRK14_HUMAN&from=53&to=393&var=L110I	ENST00000342291		ENSG00000182324	6260		5	1.35		HGNC	p.L110I		KCNJ14		SNV							ENST00000342291	protein_coding	getma.org/?cm=var&var=hg19,19,48965309,C,A&fts=all		Prints_domain:PR01320,Superfamily_domains:SSF81324,PIRSF_domain:PIRSF005465,Pfam_domain:PF01007,Gene3D:1.10.287.70,hmmpanther:PTHR11767:SF40,hmmpanther:PTHR11767,Transmembrane_helices:TMhelix		L/I		A	low	733/2960		getma.org/?cm=msa&ty=f&p=IRK14_HUMAN&rb=53&re=393&var=L110I	tolerated(0.12)					KCNJ14,missense_variant,p.Leu110Ile,ENST00000391884,;KCNJ14,missense_variant,p.Leu110Ile,ENST00000342291,NM_013348.3;CTC-273B12.7,upstream_gene_variant,,ENST00000595676,;CTC-273B12.6,upstream_gene_variant,,ENST00000597574,;CTC-273B12.5,downstream_gene_variant,,ENST00000600650,;CTC-273B12.5,downstream_gene_variant,,ENST00000600529,;CTC-273B12.5,downstream_gene_variant,,ENST00000593476,;CTC-273B12.5,downstream_gene_variant,,ENST00000596497,;							MODERATE	328/1311	L110I	IRK14_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000341479		CCDS12721.1			1	
CLCN1	0	LGGM	GRCh37	7	143020435	143020435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000343257.2:c.730G>T	p.Ala244Ser	p.A244S	ENST00000343257	NM_000083.2	244	Gct/Tct	0	1	1	UPI000020F1EC	0	getma.org/pdb.php?prot=CLCN1_HUMAN&from=170&to=572&var=A244S	ENST00000343257		ENSG00000188037	2019		13	1.16		HGNC	p.A244S		CLCN1		SNV			1				ENST00000343257	protein_coding	getma.org/?cm=var&var=hg19,7,143020435,G,T&fts=all		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF29,Superfamily_domains:SSF81340		A/S		T	low	817/3172		getma.org/?cm=msa&ty=f&p=CLCN1_HUMAN&rb=170&re=572&var=A244S	tolerated(0.15)	Q75L28_HUMAN			YES	CLCN1,missense_variant,p.Ala244Ser,ENST00000343257,NM_000083.2;CLCN1,intron_variant,,ENST00000495612,;CLCN1,missense_variant,p.Ala64Ser,ENST00000455478,;CLCN1,intron_variant,,ENST00000432192,;							MODERATE	730/2967	A244S	CLCN1_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000339867		CCDS5881.1			1	
NARS	0	LGGM	GRCh37	18	55280912	55280912	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	3	.	.	ENST00000256854.5:c.343G>T	p.Val115Leu	p.V115L	ENST00000256854	NM_004539.3	115	Gtg/Ttg	0	1	1	UPI00001365E8	0	NA	ENST00000256854		ENSG00000134440	7643		29	0.865		HGNC	p.V82L		NARS		SNV							ENST00000588661	protein_coding	getma.org/?cm=var&var=hg19,18,55280912,C,A&fts=all		hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF16,Gene3D:2.40.50.140,Superfamily_domains:SSF50249		V/L		A	low	799/3099		getma.org/?cm=msa&ty=f&p=SYNC_HUMAN&rb=1&re=127&var=V115L	tolerated(0.12)	K7EPK2_HUMAN,K7EMQ6_HUMAN			YES	NARS,missense_variant,p.Val115Leu,ENST00000256854,NM_004539.3;NARS,missense_variant,p.Cys2Phe,ENST00000423481,;NARS,missense_variant,p.Val47Leu,ENST00000587675,;NARS,missense_variant,p.Val85Leu,ENST00000591599,;NARS,missense_variant,p.Val82Leu,ENST00000588661,;NARS,missense_variant,p.Val115Leu,ENST00000587194,;NARS,missense_variant,p.Val115Leu,ENST00000586807,;NARS,missense_variant,p.Val115Leu,ENST00000540592,;NARS,splice_region_variant,,ENST00000411676,;NARS,splice_region_variant,,ENST00000587366,;NARS,splice_region_variant,,ENST00000590123,;							MODERATE	343/1647	V115L	SYNC_HUMAN			Transcript		benign(0.003)	.	ENSP00000256854		CCDS32837.1			1	
GNB5	0	LGGM	GRCh37	15	52427902	52427902	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000261837.7:c.679G>T	p.Gly227Trp	p.G227W	ENST00000261837	NM_016194.3	227	Ggg/Tgg	0	1	1	UPI000006E214	0	getma.org/pdb.php?prot=GBB5_HUMAN&from=227&to=267&var=G227W	ENST00000261837		ENSG00000069966	4401		24	2.945		HGNC	p.G42W		GNB5		SNV							ENST00000558519	protein_coding	getma.org/?cm=var&var=hg19,15,52427902,C,A&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Superfamily_domains:SSF50978		G/W		A	medium	745/3091		getma.org/?cm=msa&ty=f&p=GBB5_HUMAN&rb=227&re=267&var=G227W	deleterious(0)	H0YLU1_HUMAN			YES	GNB5,missense_variant,p.Gly227Trp,ENST00000261837,NM_016194.3;GNB5,missense_variant,p.Gly115Trp,ENST00000396335,;GNB5,missense_variant,p.Gly185Trp,ENST00000358784,NM_006578.3;CTD-2184D3.7,intron_variant,,ENST00000557898,;CTD-2184D3.7,upstream_gene_variant,,ENST00000560613,;GNB5,non_coding_transcript_exon_variant,,ENST00000559348,;GNB5,missense_variant,p.Gly42Trp,ENST00000558519,;GNB5,3_prime_UTR_variant,,ENST00000561313,;GNB5,non_coding_transcript_exon_variant,,ENST00000559541,;							MODERATE	679/1188	G227W	GBB5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261837		CCDS10149.1			1	
EIF2S3	0	LGGM	GRCh37	X	24078263	24078263	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	3	.	.	ENST00000253039.4:c.442G>T	p.Gly148Cys	p.G148C	ENST00000253039	NM_001415.3	148	Ggt/Tgt	0	1	1	UPI0000163BD6	0	getma.org/pdb.php?prot=IF2GL_HUMAN&from=39&to=245&var=G148C	ENST00000253039		ENSG00000130741	3267		46	4.42		HGNC	p.G148C		EIF2S3		SNV							ENST00000253039	protein_coding	getma.org/?cm=var&var=hg19,X,24078263,G,T&fts=all		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF94,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540,Prints_domain:PR00315		G/C		T	high	695/2858		getma.org/?cm=msa&ty=f&p=IF2GL_HUMAN&rb=39&re=245&var=G148C	deleterious(0.03)				YES	EIF2S3,missense_variant,p.Gly148Cys,ENST00000253039,NM_001415.3;EIF2S3,missense_variant,p.Gly148Cys,ENST00000423068,;EIF2S3,intron_variant,,ENST00000487075,;							MODERATE	442/1419	G148C	IF2G_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000253039		CCDS14210.1			1	
MRGPRX4	0	LGGM	GRCh37	11	18195422	18195422	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	3	.	.	ENST00000314254.3:c.619C>A	p.Arg207=	p.R207=	ENST00000314254	NM_054032.3	207	Cgg/Agg	0	1	1	UPI0000061F60	0		ENST00000314254		ENSG00000179817	17617		28			HGNC	p.R207R		MRGPRX4		SNV							ENST00000314254	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		R		A		1039/1444							YES	MRGPRX4,synonymous_variant,p.=,ENST00000314254,NM_054032.3;RP11-113D6.6,intron_variant,,ENST00000527671,;							LOW	619/969		MRGX4_HUMAN			Transcript			.	ENSP00000314042		CCDS7831.1			1	
PRDM8	0	LGGM	GRCh37	4	81123145	81123145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	3	.	.	ENST00000339711.4:c.529C>A	p.Arg177Ser	p.R177S	ENST00000339711	NM_020226.3	177	Cgc/Agc	0	1	1	UPI0000422A1D	0	NA	ENST00000339711		ENSG00000152784	13993		34	1.5		HGNC	p.R177S		PRDM8		SNV			1				ENST00000515013	protein_coding	getma.org/?cm=var&var=hg19,4,81123145,C,A&fts=all		hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF0,SMART_domains:SM00355		R/S		A	low	1760/4095		getma.org/?cm=msa&ty=f&p=PRDM8_HUMAN&rb=1&re=180&var=R177S	tolerated(0.05)	Q05CA1_HUMAN,E9PEH0_HUMAN			YES	PRDM8,missense_variant,p.Arg177Ser,ENST00000339711,NM_020226.3;PRDM8,missense_variant,p.Arg177Ser,ENST00000504452,;PRDM8,missense_variant,p.Arg177Ser,ENST00000415738,NM_001099403.1;PRDM8,missense_variant,p.Arg177Ser,ENST00000515013,;PRDM8,downstream_gene_variant,,ENST00000511825,;PRDM8,downstream_gene_variant,,ENST00000509375,;							MODERATE	529/2070	R177S	PRDM8_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000339764		CCDS43243.1			1	
NVL	0	LGGM	GRCh37	1	224473756	224473756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	12	3	.	.	ENST00000281701.6:c.1871C>A	p.Pro624His	p.P624H	ENST00000281701	NM_002533.3	624	cCt/cAt	0	1	1	UPI0000073F3E	0	getma.org/pdb.php?prot=NVL_HUMAN&from=618&to=748&var=P624H	ENST00000281701		ENSG00000143748	8070		15	4.1		HGNC	p.P518H		NVL		SNV							ENST00000391875	protein_coding	getma.org/?cm=var&var=hg19,1,224473756,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55,SMART_domains:SM00382,Superfamily_domains:SSF52540		P/H		T	high	2131/3123		getma.org/?cm=msa&ty=f&p=NVL_HUMAN&rb=618&re=748&var=P624H	deleterious(0)	Q96PA2_HUMAN			YES	NVL,missense_variant,p.Pro624His,ENST00000281701,NM_002533.3;NVL,missense_variant,p.Pro518His,ENST00000391875,NM_206840.2;NVL,missense_variant,p.Pro533His,ENST00000469075,NM_001243147.1;NVL,missense_variant,p.Pro507His,ENST00000469968,;NVL,missense_variant,p.Pro348His,ENST00000482491,;NVL,missense_variant,p.Pro435His,ENST00000340871,NM_001243146.1;NVL,missense_variant,p.Pro518His,ENST00000361463,;NVL,downstream_gene_variant,,ENST00000467882,;NVL,downstream_gene_variant,,ENST00000462893,;							MODERATE	1871/2571	P624H	NVL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000281701		CCDS1541.1			1	
DNAH2	0	LGGM	GRCh37	17	7682739	7682739	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	2	3	.	.	ENST00000572933.1:c.5720C>A	p.Pro1907His	p.P1907H	ENST00000572933		1907	cCt/cAt	0	1		UPI00005B2F0D	0	getma.org/pdb.php?prot=DYH2_HUMAN&from=1765&to=1995&var=P1907H	ENST00000389173		ENSG00000183914	2948		5	4.295		HGNC	p.P1907H		DNAH2		SNV							ENST00000389173	protein_coding	getma.org/?cm=var&var=hg19,17,7682739,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183,SMART_domains:SM00382,Superfamily_domains:SSF52540		P/H		A	high	5734/13505		getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=1765&re=1995&var=P1907H						DNAH2,missense_variant,p.Pro1907His,ENST00000572933,;DNAH2,missense_variant,p.Pro1907His,ENST00000389173,NM_020877.2;DNAH2,splice_region_variant,,ENST00000574518,;							MODERATE	5720/13284	P1907H	DYH2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000373825		CCDS32551.1			1	
HTR3E	0	LGGM	GRCh37	3	183815368	183815368	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	3	.	.	ENST00000431427.1:n.283-2230G>T		*95*	ENST00000431427				0	1		UPI000156575F	0		ENST00000415389		ENSG00000186038	24005		40			HGNC	p.L17L		HTR3E		SNV							ENST00000425359	protein_coding			Cleavage_site_(Signalp):SignalP-noTM		L		A		517/2139				C9J420_HUMAN				HTR3E,synonymous_variant,p.=,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,synonymous_variant,p.=,ENST00000425359,;HTR3E,upstream_gene_variant,,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,upstream_gene_variant,,ENST00000440596,NM_001256614.1;HTR3E,upstream_gene_variant,,ENST00000436361,;HTR3E,upstream_gene_variant,,ENST00000431041,;HTR3E-AS1,intron_variant,,ENST00000431427,;							LOW	51/1371		5HT3E_HUMAN			Transcript			.	ENSP00000401444		CCDS58868.1			1	
AMPD2	0	LGGM	GRCh37	1	110169453	110169453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	3	.	.	ENST00000256578.3:c.799C>A	p.Arg267Ser	p.R267S	ENST00000256578	NM_004037.7	267	Cgc/Agc	0	1	1	UPI0000125956	0	NA	ENST00000256578		ENSG00000116337	469		20	-1.28		HGNC	p.R192S		AMPD2		SNV			1				ENST00000358729	protein_coding	getma.org/?cm=var&var=hg19,1,110169453,C,A&fts=all		hmmpanther:PTHR11359:SF3,hmmpanther:PTHR11359,TIGRFAM_domain:TIGR01429,PIRSF_domain:PIRSF001251,Superfamily_domains:SSF51556		R/S		A	neutral	1159/3899		getma.org/?cm=msa&ty=f&p=AMPD2_HUMAN&rb=120&re=319&var=R267S	tolerated(0.64)	E9PIJ1_HUMAN			YES	AMPD2,missense_variant,p.Arg267Ser,ENST00000256578,NM_004037.7;AMPD2,missense_variant,p.Arg186Ser,ENST00000342115,NM_139156.3;AMPD2,missense_variant,p.Arg148Ser,ENST00000393688,NM_203404.1;AMPD2,missense_variant,p.Arg267Ser,ENST00000528667,NM_001257360.1;AMPD2,missense_variant,p.Arg238Ser,ENST00000369840,;AMPD2,missense_variant,p.Arg192Ser,ENST00000358729,;AMPD2,missense_variant,p.Arg149Ser,ENST00000528454,NM_001257361.1;AMPD2,upstream_gene_variant,,ENST00000476688,;AMPD2,downstream_gene_variant,,ENST00000474459,;AMPD2,downstream_gene_variant,,ENST00000527846,;AMPD2,downstream_gene_variant,,ENST00000531203,;AMPD2,downstream_gene_variant,,ENST00000531734,;RP5-1160K1.6,downstream_gene_variant,,ENST00000369843,;AMPD2,non_coding_transcript_exon_variant,,ENST00000526301,;AMPD2,downstream_gene_variant,,ENST00000459643,;AMPD2,non_coding_transcript_exon_variant,,ENST00000525415,;AMPD2,non_coding_transcript_exon_variant,,ENST00000534144,;AMPD2,upstream_gene_variant,,ENST00000532851,;AMPD2,upstream_gene_variant,,ENST00000533132,;AMPD2,upstream_gene_variant,,ENST00000528958,;AMPD2,upstream_gene_variant,,ENST00000479919,;AMPD2,upstream_gene_variant,,ENST00000524975,;AMPD2,downstream_gene_variant,,ENST00000528270,;AMPD2,upstream_gene_variant,,ENST00000529299,;AMPD2,downstream_gene_variant,,ENST00000486282,;AMPD2,upstream_gene_variant,,ENST00000467071,;							MODERATE	799/2640	R267S	AMPD2_HUMAN			Transcript		benign(0.002)	.	ENSP00000256578		CCDS805.1			1	
PHACTR3	0	LGGM	GRCh37	20	58342315	58342315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000371015.1:c.616C>A	p.Gln206Lys	p.Q206K	ENST00000371015	NM_080672.4	206	Caa/Aaa	0	1	1	UPI000006D452	0	NA	ENST00000371015		ENSG00000087495	15833		18	1.95		HGNC	p.Q165K		PHACTR3		SNV							ENST00000541461	protein_coding	getma.org/?cm=var&var=hg19,20,58342315,C,A&fts=all		hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7		Q/K		A	medium	1083/2728		getma.org/?cm=msa&ty=f&p=PHAR3_HUMAN&rb=201&re=400&var=Q206K	tolerated(0.36)	F6RP66_HUMAN			YES	PHACTR3,missense_variant,p.Gln206Lys,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Gln165Lys,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Gln203Lys,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Gln165Lys,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Gln165Lys,ENST00000541461,NM_001281507.1;PHACTR3,intron_variant,,ENST00000395639,;PHACTR3,intron_variant,,ENST00000361300,NM_183246.1;							MODERATE	616/1680	Q206K	PHAR3_HUMAN			Transcript		benign(0.031)	.	ENSP00000360054		CCDS13480.1			1	
CRLF1	0	LGGM	GRCh37	19	18707584	18707584	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	4	3	.	.	ENST00000392386.3:c.872del	p.Ser291ThrfsTer11	p.S291Tfs*11	ENST00000392386	NM_004750.4	291	aGc/ac	0	1	1	UPI000000DA9E	0		ENST00000392386		ENSG00000006016	2364		7			HGNC	p.S291fs		CRLF1		deletion			1				ENST00000392386	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF26,SMART_domains:SM00060,Superfamily_domains:SSF49265		S/X		-		1066/1792							YES	CRLF1,frameshift_variant,p.Ser291ThrfsTer11,ENST00000392386,NM_004750.4;CRLF1,frameshift_variant,p.Ser113ThrfsTer11,ENST00000597131,;C19orf60,downstream_gene_variant,,ENST00000358607,NM_001100418.1,NM_001100419.1;C19orf60,downstream_gene_variant,,ENST00000450195,;C19orf60,downstream_gene_variant,,ENST00000595490,;CRLF1,upstream_gene_variant,,ENST00000594325,;CRLF1,downstream_gene_variant,,ENST00000593286,;C19orf60,downstream_gene_variant,,ENST00000595077,;C19orf60,downstream_gene_variant,,ENST00000600997,;C19orf60,downstream_gene_variant,,ENST00000598375,;C19orf60,downstream_gene_variant,,ENST00000597371,;C19orf60,downstream_gene_variant,,ENST00000601736,;CRLF1,upstream_gene_variant,,ENST00000596360,;							HIGH	872/1269		CRLF1_HUMAN			Transcript			.	ENSP00000376188		CCDS32962.1			1	
SEL1L	0	LGGM	GRCh37	14	81955604	81955604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	3	.	.	ENST00000336735.4:c.1387G>T	p.Val463Phe	p.V463F	ENST00000336735	NM_005065.5	463	Gtt/Ttt	0	1	1	UPI0000135746	0	NA	ENST00000336735		ENSG00000071537	10717		43	3.39		HGNC	p.V463F		SEL1L		SNV							ENST00000336735	protein_coding	getma.org/?cm=var&var=hg19,14,81955604,C,A&fts=all		hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901		V/F		A	medium	1504/7925		getma.org/?cm=msa&ty=f&p=SE1L1_HUMAN&rb=447&re=482&var=V463F	deleterious(0)				YES	SEL1L,missense_variant,p.Val463Phe,ENST00000336735,NM_005065.5;SEL1L,non_coding_transcript_exon_variant,,ENST00000555923,;SEL1L,upstream_gene_variant,,ENST00000554293,;							MODERATE	1387/2385	V463F	SE1L1_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000337053		CCDS9876.1			1	
PRPF40B	0	LGGM	GRCh37	12	50028965	50028965	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000548825.2:c.1085G>T	p.Arg362Leu	p.R362L	ENST00000548825	NM_001031698.2	362	cGg/cTg	0	1		UPI000034E5B3	0	NA	ENST00000380281		ENSG00000110844	25031		18	2.71		HGNC	p.R334L		PRPF40B		SNV							ENST00000261897	protein_coding	getma.org/?cm=var&var=hg19,12,50028965,G,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF81698,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF1,PROSITE_profiles:PS51676		R/L		T	medium	1083/3154		getma.org/?cm=msa&ty=f&p=PR40B_HUMAN&rb=328&re=491&var=R340L	deleterious(0)					PRPF40B,missense_variant,p.Arg334Leu,ENST00000261897,;PRPF40B,missense_variant,p.Arg362Leu,ENST00000548825,NM_001031698.2;PRPF40B,missense_variant,p.Arg340Leu,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,downstream_gene_variant,,ENST00000551320,;PRPF40B,upstream_gene_variant,,ENST00000548399,;							MODERATE	1019/2616	R340L	PR40B_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000369634					1	
DHRS4	0	LGGM	GRCh37	14	24423009	24423009	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	4	3	.	.	ENST00000313250.5:c.12G>T	p.Ala4=	p.A4=	ENST00000313250	NM_021004.2	4	gcG/gcT	0	1	1	UPI000003F541	0		ENST00000313250		ENSG00000157326	16985		7			HGNC	p.A4A		DHRS4		SNV							ENST00000558581	protein_coding					A		T		215/1443				H0YLE1_HUMAN			YES	DHRS4,synonymous_variant,p.=,ENST00000313250,NM_021004.2;DHRS4,synonymous_variant,p.=,ENST00000543741,;DHRS4,synonymous_variant,p.=,ENST00000558581,NM_001282988.1;DHRS4,synonymous_variant,p.=,ENST00000558263,NM_001282987.1;DHRS4,synonymous_variant,p.=,ENST00000559632,NM_001282990.1;DHRS4,synonymous_variant,p.=,ENST00000397074,NM_001282991.1;DHRS4,synonymous_variant,p.=,ENST00000397075,NM_001282989.1;DHRS4,5_prime_UTR_variant,,ENST00000421831,;DHRS4,5_prime_UTR_variant,,ENST00000397073,;DHRS4,5_prime_UTR_variant,,ENST00000382761,;DHRS4,5_prime_UTR_variant,,ENST00000308178,;DHRS4-AS1,non_coding_transcript_exon_variant,,ENST00000556379,;DHRS4-AS1,non_coding_transcript_exon_variant,,ENST00000555045,;DHRS4-AS1,non_coding_transcript_exon_variant,,ENST00000553454,;DHRS4-AS1,intron_variant,,ENST00000558423,;DHRS4-AS1,upstream_gene_variant,,ENST00000399886,;DHRS4-AS1,non_coding_transcript_exon_variant,,ENST00000554036,;							LOW	12/837		DHRS4_HUMAN			Transcript			.	ENSP00000326219		CCDS9605.1			1	
RBFOX2	0	LGGM	GRCh37	22	36140294	36140294	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	3	.	.	ENST00000438146.2:c.1314G>T	p.Ala438=	p.A438=	ENST00000438146	NM_001082578.1	438	gcG/gcT	0	1	1	UPI00015DF7D4	0		ENST00000438146		ENSG00000100320	9906		8			HGNC	p.R354L		RBFOX2		SNV							ENST00000359369	protein_coding			hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF24,PIRSF_domain:PIRSF037932		A		A		1314/1356							YES	RBFOX2,missense_variant,p.Arg351Leu,ENST00000405409,NM_014309.2,NM_001031695.2,NM_001082577.1,NM_001082576.1;RBFOX2,missense_variant,p.Arg354Leu,ENST00000414461,;RBFOX2,missense_variant,p.Arg354Leu,ENST00000359369,;RBFOX2,splice_region_variant,p.=,ENST00000449924,;RBFOX2,splice_region_variant,p.=,ENST00000262829,;RBFOX2,splice_region_variant,p.=,ENST00000438146,NM_001082578.1,NM_001082579.1;RBFOX2,splice_region_variant,p.=,ENST00000397303,;RBFOX2,splice_region_variant,p.=,ENST00000416721,;RBFOX2,splice_region_variant,p.=,ENST00000495377,;RBFOX2,splice_region_variant,,ENST00000463509,;							LOW	1314/1356		RFOX2_HUMAN			Transcript			.	ENSP00000413035		CCDS43013.1			1	
SOAT1	0	LGGM	GRCh37	1	179310213	179310213	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000367619.3:c.548C>A	p.Thr183Asn	p.T183N	ENST00000367619	NM_003101.5	183	aCc/aAc	0	1	1	UPI0000071233	0	NA	ENST00000367619		ENSG00000057252	11177		24	2.19		HGNC	p.T118N		SOAT1		SNV							ENST00000539888	protein_coding	getma.org/?cm=var&var=hg19,1,179310213,C,A&fts=all		Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF6		T/N		A	medium	691/6835		getma.org/?cm=msa&ty=f&p=SOAT1_HUMAN&rb=171&re=520&var=T183N	deleterious(0.01)	B4DFD8_HUMAN,B1APM4_HUMAN			YES	SOAT1,missense_variant,p.Thr183Asn,ENST00000367619,NM_003101.5;SOAT1,missense_variant,p.Thr125Asn,ENST00000540564,NM_001252511.1;SOAT1,missense_variant,p.Thr118Asn,ENST00000539888,NM_001252512.1;SOAT1,missense_variant,p.Thr183Asn,ENST00000426956,;SOAT1,5_prime_UTR_variant,,ENST00000535686,;							MODERATE	548/1653	T183N	SOAT1_HUMAN			Transcript		benign(0.281)	.	ENSP00000356591		CCDS1330.1			1	
ST3GAL3	0	LGGM	GRCh37	1	44386171	44386171	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	3	.	.	ENST00000262915.3:c.1047C>A	p.Ala349=	p.A349=	ENST00000262915	NM_174963.3	349	gcC/gcA	0	1		UPI000000D7A9	0		ENST00000361392		ENSG00000126091	10866		26			HGNC	p.P202Q		ST3GAL3		SNV			1				ENST00000530581	protein_coding			hmmpanther:PTHR13713:SF6,hmmpanther:PTHR13713,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557		A		A		1017/2243								ST3GAL3,missense_variant,p.Pro202Gln,ENST00000335430,;ST3GAL3,synonymous_variant,p.=,ENST00000262915,NM_174963.3;ST3GAL3,synonymous_variant,p.=,ENST00000372375,NM_174968.3;ST3GAL3,synonymous_variant,p.=,ENST00000351035,NM_174971.3;ST3GAL3,synonymous_variant,p.=,ENST00000361392,NM_006279.3,NM_001270459.1,NM_174964.2;ST3GAL3,synonymous_variant,p.=,ENST00000361400,NM_174969.2;ST3GAL3,synonymous_variant,p.=,ENST00000372374,NM_001270460.1;ST3GAL3,synonymous_variant,p.=,ENST00000361746,;ST3GAL3,synonymous_variant,p.=,ENST00000347631,;ST3GAL3,synonymous_variant,p.=,ENST00000372368,;ST3GAL3,synonymous_variant,p.=,ENST00000372372,;ST3GAL3,synonymous_variant,p.=,ENST00000372369,;ST3GAL3,synonymous_variant,p.=,ENST00000332628,;ST3GAL3,synonymous_variant,p.=,ENST00000490502,;ST3GAL3,3_prime_UTR_variant,,ENST00000372377,;ST3GAL3,intron_variant,,ENST00000353126,NM_001270461.1,NM_174966.2;ST3GAL3,intron_variant,,ENST00000545417,NM_174965.2;ST3GAL3,intron_variant,,ENST00000330208,NM_174967.2,NM_174970.2;ST3GAL3,intron_variant,,ENST00000533933,;ST3GAL3,intron_variant,,ENST00000531993,;ST3GAL3,intron_variant,,ENST00000372365,;ST3GAL3,intron_variant,,ENST00000372366,NM_001270465.1;ST3GAL3,intron_variant,,ENST00000372367,NM_001270463.1;ST3GAL3,intron_variant,,ENST00000528371,NM_001270464.1;ST3GAL3,intron_variant,,ENST00000361812,;ST3GAL3,intron_variant,,ENST00000372362,;ST3GAL3,intron_variant,,ENST00000531451,;ST3GAL3,intron_variant,,ENST00000531816,NM_001270466.1;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000461375,;ST3GAL3,missense_variant,p.Pro202Gln,ENST00000530581,;ST3GAL3,3_prime_UTR_variant,,ENST00000469715,;ST3GAL3,3_prime_UTR_variant,,ENST00000490541,;ST3GAL3,3_prime_UTR_variant,,ENST00000533212,;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000495482,;ST3GAL3,intron_variant,,ENST00000533997,;ST3GAL3,intron_variant,,ENST00000489897,;ST3GAL3,downstream_gene_variant,,ENST00000530154,;							LOW	840/1128		SIAT6_HUMAN			Transcript			.	ENSP00000355341		CCDS492.1			1	
CEP192	0	LGGM	GRCh37	18	13096282	13096282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	3	.	.	ENST00000506447.1:c.6533C>A	p.Pro2178Gln	p.P2178Q	ENST00000506447	NM_032142.3	2178	cCg/cAg	0	1	1	UPI0001B09235	0	NA	ENST00000506447		ENSG00000101639	25515		24	2.31		HGNC	p.P1778Q		CEP192		SNV							ENST00000510237	protein_coding	getma.org/?cm=var&var=hg19,18,13096282,C,A&fts=all		hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		P/Q		A	medium	6613/7960		getma.org/?cm=msa&ty=f&p=CE192_HUMAN&rb=6&re=1939&var=P1582Q	deleterious(0)	E9PF99_HUMAN			YES	CEP192,missense_variant,p.Pro2178Gln,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Pro1582Gln,ENST00000325971,;CEP192,missense_variant,p.Pro1717Gln,ENST00000511820,;CEP192,missense_variant,p.Pro1703Gln,ENST00000430049,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,downstream_gene_variant,,ENST00000507254,;CEP192,missense_variant,p.Pro1778Gln,ENST00000510237,;CEP192,missense_variant,p.Pro726Gln,ENST00000589993,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,downstream_gene_variant,,ENST00000508150,;							MODERATE	6533/7614	P1582Q				Transcript		probably_damaging(1)	.	ENSP00000427550		CCDS32792.2			1	
VWA8	0	LGGM	GRCh37	13	42164782	42164782	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	3	.	.	ENST00000379310.3:c.5106G>T	p.Glu1702Asp	p.E1702D	ENST00000379310	NM_015058.1	1702	gaG/gaT	0	1	1	UPI00001606AC	0	NA	ENST00000379310		ENSG00000102763	29071		13	0.94		HGNC	p.E1702D		VWA8		SNV							ENST00000379310	protein_coding	getma.org/?cm=var&var=hg19,13,42164782,C,A&fts=all		hmmpanther:PTHR21610,hmmpanther:PTHR21610:SF9		E/D		A	low	5175/7147		getma.org/?cm=msa&ty=f&p=K0564_HUMAN&rb=1524&re=1713&var=E1702D	tolerated(0.31)				YES	VWA8,missense_variant,p.Glu1702Asp,ENST00000379310,NM_015058.1;							MODERATE	5106/5718	E1702D	VWA8_HUMAN			Transcript		benign(0.101)	.	ENSP00000368612		CCDS41881.1			1	
TMEM200A	0	LGGM	GRCh37	6	130762208	130762208	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	3	.	.	ENST00000392429.1:c.641C>A	p.Ser214Ter	p.S214*	ENST00000392429	NM_052913.2	214	tCg/tAg	0	1		UPI000000DA85	0	NA	ENST00000296978		ENSG00000164484	21075		11	0		HGNC	p.S214X		TMEM200A		SNV							ENST00000545622	protein_coding	getma.org/?cm=var&var=hg19,6,130762208,C,A&fts=all		hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0		S/*		A	NA	1512/3512		NA		B4DG12_HUMAN,A8K2A1_HUMAN				TMEM200A,stop_gained,p.Ser214Ter,ENST00000392429,NM_052913.2;TMEM200A,stop_gained,p.Ser214Ter,ENST00000296978,NM_001258277.1,NM_001258276.1,NM_001258278.1;TMEM200A,stop_gained,p.Ser214Ter,ENST00000545622,;							HIGH	641/1476	S214*	T200A_HUMAN			Transcript			.	ENSP00000296978		CCDS5140.1			1	
OSBPL10	0	LGGM	GRCh37	3	31705713	31705713	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	3	.	.	ENST00000396556.2:c.2108G>T	p.Arg703Leu	p.R703L	ENST00000396556	NM_017784.4	703	cGg/cTg	0	1	1	UPI0000130E9B	0	getma.org/pdb.php?prot=OSB10_HUMAN&from=399&to=763&var=R703L	ENST00000396556		ENSG00000144645	16395		27	1.785		HGNC	p.R639L		OSBPL10		SNV							ENST00000438237	protein_coding	getma.org/?cm=var&var=hg19,3,31705713,C,A&fts=all		Superfamily_domains:0051579,Pfam_domain:PF01237,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF47		R/L		A	low	2231/6600		getma.org/?cm=msa&ty=f&p=OSB10_HUMAN&rb=399&re=763&var=R703L	deleterious(0)				YES	OSBPL10,missense_variant,p.Arg472Leu,ENST00000429492,;OSBPL10,missense_variant,p.Arg703Leu,ENST00000396556,NM_017784.4;OSBPL10,missense_variant,p.Arg639Leu,ENST00000438237,NM_001174060.1;OSBPL10,non_coding_transcript_exon_variant,,ENST00000469557,;							MODERATE	2108/2295	R703L	OSB10_HUMAN			Transcript		benign(0.36)	.	ENSP00000379804		CCDS2651.1			1	
MED14	0	LGGM	GRCh37	X	40541948	40541948	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000324817.1:c.2272G>T	p.Gly758Cys	p.G758C	ENST00000324817	NM_004229.3	758	Ggt/Tgt	0	1	1	UPI00001414B1	0	NA	ENST00000324817		ENSG00000180182	2370		14	1.5		HGNC	p.G758C		MED14		SNV							ENST00000324817	protein_coding	getma.org/?cm=var&var=hg19,X,40541948,C,A&fts=all		hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2		G/C		A	low	2391/7984		getma.org/?cm=msa&ty=f&p=MED14_HUMAN&rb=641&re=840&var=G758C	deleterious(0.01)				YES	MED14,missense_variant,p.Gly758Cys,ENST00000324817,NM_004229.3;MED14,non_coding_transcript_exon_variant,,ENST00000496531,;							MODERATE	2272/4365	G758C	MED14_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000323720		CCDS14254.1			1	
SUN1	0	LGGM	GRCh37	7	899891	899891	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000401592.1:c.1651C>A	p.Leu551Met	p.L551M	ENST00000401592	NM_001130965.2	551	Ctg/Atg	0	1	1	UPI000020E965	0	NA	ENST00000401592		ENSG00000164828	18587		12	2.785		HGNC	p.L551M		SUN1		SNV							ENST00000401592	protein_coding	getma.org/?cm=var&var=hg19,7,899891,C,A&fts=all		hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF18		L/M		A	medium	1675/3953		getma.org/?cm=msa&ty=f&p=SUN1_HUMAN&rb=522&re=674&var=L578M	deleterious(0)	Q5S4N2_HUMAN,C9K051_HUMAN,C9JS54_HUMAN,C9JR15_HUMAN,C9JK55_HUMAN,C9JJU6_HUMAN			YES	SUN1,missense_variant,p.Leu740Met,ENST00000456758,;SUN1,missense_variant,p.Leu588Met,ENST00000405266,;SUN1,missense_variant,p.Leu551Met,ENST00000401592,NM_001130965.2;SUN1,missense_variant,p.Leu468Met,ENST00000425407,;SUN1,missense_variant,p.Leu468Met,ENST00000389574,NM_025154.5;SUN1,missense_variant,p.Leu448Met,ENST00000452783,NM_001171944.1;SUN1,missense_variant,p.Leu476Met,ENST00000429178,;SUN1,missense_variant,p.Leu400Met,ENST00000433212,;SUN1,missense_variant,p.Leu349Met,ENST00000413514,;SUN1,missense_variant,p.Leu269Met,ENST00000457861,;SUN1,non_coding_transcript_exon_variant,,ENST00000413171,;SUN1,non_coding_transcript_exon_variant,,ENST00000475971,;							MODERATE	1651/2358	L578M	SUN1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000384015		CCDS47525.1			1	
SEMA3C	0	LGGM	GRCh37	7	80387707	80387707	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000265361.3:c.1583G>T	p.Arg528Leu	p.R528L	ENST00000265361	NM_006379.3	528	cGg/cTg	0	1	1	UPI000011C137	0	getma.org/pdb.php?prot=SEM3C_HUMAN&from=496&to=578&var=R528L	ENST00000265361		ENSG00000075223	10725		23	3.445		HGNC	p.R546L		SEMA3C		SNV			1				ENST00000544525	protein_coding	getma.org/?cm=var&var=hg19,7,80387707,C,A&fts=all		hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575		R/L		A	medium	2145/5174		getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=496&re=578&var=R528L	deleterious(0)	Q75MX0_HUMAN,Q75L25_HUMAN			YES	SEMA3C,missense_variant,p.Arg528Leu,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Arg546Leu,ENST00000544525,;SEMA3C,missense_variant,p.Arg528Leu,ENST00000419255,;							MODERATE	1583/2256	R528L	SEM3C_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000265361		CCDS5596.1			1	
ZNF19	0	LGGM	GRCh37	16	71509225	71509225	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	3	.	.	ENST00000288177.5:c.1225G>T	p.Gly409Ter	p.G409*	ENST00000288177	NM_006961.3	409	Gga/Tga	0	1	1	UPI00001E0590	0	NA	ENST00000288177		ENSG00000157429	12981		18	0		HGNC	p.G409X		ZNF19		SNV							ENST00000288177	protein_coding	getma.org/?cm=var&var=hg19,16,71509225,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF59,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/*		A	NA	1481/3213		NA		J3KT56_HUMAN,H3BQI6_HUMAN,H3BQ26_HUMAN,H3BNI0_HUMAN,H3BNH9_HUMAN			YES	ZNF19,stop_gained,p.Gly409Ter,ENST00000288177,NM_006961.3;ZNF19,stop_gained,p.Gly367Ter,ENST00000565637,;ZNF19,stop_gained,p.Gly409Ter,ENST00000564230,;ZNF19,stop_gained,p.Gly339Ter,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,;							HIGH	1225/1377	G409*	ZNF19_HUMAN			Transcript			.	ENSP00000288177		CCDS10901.1			1	
CSTPP1	0	LGGM	GRCh37	11	47074028	47074028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	3	.	.	ENST00000378615.3:c.239G>T	p.Arg80Leu	p.R80L	ENST00000378615		80	cGg/cTg	0	1		UPI000006E352	0	NA	ENST00000278460		ENSG00000149179	28720		40	2.125		HGNC	p.R6L		C11orf49		SNV							ENST00000526827	protein_coding	getma.org/?cm=var&var=hg19,11,47074028,G,T&fts=all				R/L		T	medium	298/1645		getma.org/?cm=msa&ty=f&p=CK049_HUMAN&rb=1&re=329&var=R80L	deleterious(0.02)	E9PI28_HUMAN,B4DUV7_HUMAN				C11orf49,missense_variant,p.Arg80Leu,ENST00000395460,NM_001003676.2;C11orf49,missense_variant,p.Arg80Leu,ENST00000378615,;C11orf49,missense_variant,p.Arg80Leu,ENST00000278460,NM_024113.4,NM_001278222.1,NM_001003677.2;C11orf49,missense_variant,p.Arg80Leu,ENST00000378618,NM_001003678.2;C11orf49,missense_variant,p.Arg6Leu,ENST00000526827,;C11orf49,5_prime_UTR_variant,,ENST00000536126,;C11orf49,intron_variant,,ENST00000543718,;C11orf49,non_coding_transcript_exon_variant,,ENST00000527268,;C11orf49,non_coding_transcript_exon_variant,,ENST00000527234,;C11orf49,non_coding_transcript_exon_variant,,ENST00000533124,;C11orf49,missense_variant,p.Arg80Leu,ENST00000528488,;C11orf49,missense_variant,p.Gly46Trp,ENST00000525895,;C11orf49,missense_variant,p.Arg9Leu,ENST00000534249,;C11orf49,3_prime_UTR_variant,,ENST00000532633,;C11orf49,3_prime_UTR_variant,,ENST00000525279,;C11orf49,3_prime_UTR_variant,,ENST00000526424,;C11orf49,3_prime_UTR_variant,,ENST00000527667,;C11orf49,non_coding_transcript_exon_variant,,ENST00000522712,;C11orf49,non_coding_transcript_exon_variant,,ENST00000532840,;C11orf49,intron_variant,,ENST00000527784,;							MODERATE	239/996	R80L	CK049_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000278460		CCDS7925.1			1	
TARS2	0	LGGM	GRCh37	1	150469093	150469093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000369064.3:c.910C>A	p.Arg304Ser	p.R304S	ENST00000369064	NM_025150.4	304	Cgc/Agc	0	1	1	UPI00000492D1	0	getma.org/pdb.php?prot=SYTM_HUMAN&from=278&to=330&var=R304S	ENST00000369064		ENSG00000143374	30740		23	2.53		HGNC	p.R304S		TARS2		SNV			1				ENST00000369064	protein_coding	getma.org/?cm=var&var=hg19,1,150469093,C,A&fts=all		HAMAP:MF_00184,hmmpanther:PTHR11451:SF13,hmmpanther:PTHR11451,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Superfamily_domains:SSF55681		R/S		A	medium	944/2729		getma.org/?cm=msa&ty=f&p=SYTM_HUMAN&rb=278&re=330&var=R304S	deleterious(0)	Q9H045_HUMAN			YES	TARS2,missense_variant,p.Arg304Ser,ENST00000369064,NM_025150.4;TARS2,3_prime_UTR_variant,,ENST00000438568,;TARS2,intron_variant,,ENST00000606933,NM_001271895.1;TARS2,intron_variant,,ENST00000369054,NM_001271896.1;TARS2,intron_variant,,ENST00000463555,;TARS2,intron_variant,,ENST00000480070,;TARS2,3_prime_UTR_variant,,ENST00000467982,;TARS2,non_coding_transcript_exon_variant,,ENST00000462578,;TARS2,intron_variant,,ENST00000369051,;TARS2,intron_variant,,ENST00000460794,;TARS2,downstream_gene_variant,,ENST00000466989,;							MODERATE	910/2157	R304S	SYTM_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000358060		CCDS952.1			1	
CEP164	0	LGGM	GRCh37	11	117241956	117241956	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	3	.	.	ENST00000278935.3:c.926G>T	p.Gly309Val	p.G309V	ENST00000278935	NM_014956.4	309	gGt/gTt	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		45	0.69		HGNC	p.G283V		CEP164		SNV			1				ENST00000529538	protein_coding	getma.org/?cm=var&var=hg19,11,117241956,G,T&fts=all		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		G/V		T	neutral	1073/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=111&re=609&var=G309V	tolerated(0.29)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN			YES	CEP164,missense_variant,p.Gly309Val,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;							MODERATE	926/4383	G309V	CE164_HUMAN			Transcript		benign(0.366)	.	ENSP00000278935		CCDS31683.1			1	
CAMK2A	0	LGGM	GRCh37	5	149602613	149602613	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	3	.	.	ENST00000398376.3:c.1405C>A	p.Arg469=	p.R469=	ENST00000398376		469	Cgg/Agg	0	1		UPI00001678B1	0		ENST00000348628		ENSG00000070808	1460		9			HGNC	p.R469R	rs577586528	CAMK2A	6.06E-05	SNV							ENST00000398376	protein_coding		T:0	hmmpanther:PTHR24347:SF158,hmmpanther:PTHR24347,Pfam_domain:PF08332,Gene3D:3.10.450.50,Superfamily_domains:SSF54427		R		T		2038/5322				Q7LDD5_HUMAN,D6RHX9_HUMAN,D6RFJ0_HUMAN	T:0	T:0		CAMK2A,synonymous_variant,p.=,ENST00000348628,NM_171825.2,NM_015981.3;CAMK2A,synonymous_variant,p.=,ENST00000398376,;SLC6A7,downstream_gene_variant,,ENST00000524041,;CAMK2A,non_coding_transcript_exon_variant,,ENST00000351010,;		T:0.0002					LOW	1372/1437		KCC2A_HUMAN		T:0	Transcript			.	ENSP00000261793	8.24E-06	CCDS43386.1		T:0.001	1	
FGD1	0	LGGM	GRCh37	X	54475581	54475581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	3	.	.	ENST00000375135.3:c.2269G>T	p.Gly757Trp	p.G757W	ENST00000375135	NM_004463.2	757	Ggg/Tgg	0	1	1	UPI000012A705	0	getma.org/pdb.php?prot=FGD1_HUMAN&from=725&to=791&var=G757W	ENST00000375135		ENSG00000102302	3663		25	4.415		HGNC	p.G757W		FGD1		SNV			1				ENST00000375135	protein_coding	getma.org/?cm=var&var=hg19,X,54475581,C,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF01363,PROSITE_profiles:PS50178,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF79,SMART_domains:SM00064,Superfamily_domains:SSF50729		G/W		A	high	3003/4275		getma.org/?cm=msa&ty=f&p=FGD1_HUMAN&rb=725&re=791&var=G757W	deleterious(0)				YES	FGD1,missense_variant,p.Gly757Trp,ENST00000375135,NM_004463.2;TSR2,downstream_gene_variant,,ENST00000375151,NM_058163.1;							MODERATE	2269/2886	G757W	FGD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364277		CCDS14359.1			1	
MPL	0	LGGM	GRCh37	1	43814982	43814982	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	3	.	.	ENST00000372470.3:c.1517C>G	p.Ala506Gly	p.A506G	ENST00000372470	NM_005373.2	506	gCc/gGc	0	1	1	UPI000002DB88	0	NA	ENST00000372470		ENSG00000117400	7217		23	1.355		HGNC	p.A506G		MPL		SNV			1				ENST00000413998	protein_coding	getma.org/?cm=var&var=hg19,1,43814982,C,G&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF8		A/G		G	low	1559/1950		getma.org/?cm=msa&ty=f&p=TPOR_HUMAN&rb=476&re=635&var=A506G	tolerated(0.39)				YES	MPL,missense_variant,p.Ala506Gly,ENST00000372470,NM_005373.2;MPL,missense_variant,p.Ala506Gly,ENST00000413998,;							MODERATE	1517/1908	A506G	TPOR_HUMAN			Transcript		benign(0.002)	.	ENSP00000361548		CCDS483.1			1	
DNAH14	0	LGGM	GRCh37	1	225226484	225226484	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	3	.	.	ENST00000430092.1:c.1447G>T	p.Val483Phe	p.V483F	ENST00000430092	NM_001373.1	483	Gtt/Ttt	0	1		UPI0001642868	0	NA	ENST00000445597		ENSG00000185842	2945		14	0.55		HGNC	p.V483F		DNAH14		SNV							ENST00000430092	protein_coding	getma.org/?cm=var&var=hg19,1,225226484,G,T&fts=all				V/F		T	neutral	1504/10524		getma.org/?cm=msa&ty=f&p=E2PSN3_HUMAN&rb=201&re=400&var=V216F	tolerated(0.21)	C9JU64_HUMAN				DNAH14,missense_variant,p.Val483Phe,ENST00000430092,NM_001373.1;DNAH14,missense_variant,p.Val483Phe,ENST00000439375,;DNAH14,missense_variant,p.Val502Phe,ENST00000445597,;							MODERATE	1504/10524	V216F	DYH14_HUMAN			Transcript		benign(0.001)	.	ENSP00000409472					1	
CDCP1	0	LGGM	GRCh37	3	45130575	45130575	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	3	.	.	ENST00000296129.1:c.2052C>A	p.Leu684=	p.L684=	ENST00000296129	NM_022842.4	684	ctC/ctA	0	1	1	UPI000013E304	0		ENST00000296129		ENSG00000163814	24357		12			HGNC	p.L684L		CDCP1		SNV							ENST00000296129	protein_coding			hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L		T		2187/6006							YES	CDCP1,synonymous_variant,p.=,ENST00000296129,NM_022842.4;							LOW	2052/2511		CDCP1_HUMAN			Transcript			.	ENSP00000296129		CCDS2727.1			1	
TRIM32	0	LGGM	GRCh37	9	119460226	119460226	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	3	.	.	ENST00000450136.1:c.205C>A	p.Arg69Ser	p.R69S	ENST00000450136	NM_012210.3	69	Cgc/Agc	0	1		UPI000012CDB9	0	getma.org/pdb.php?prot=TRI32_HUMAN&from=64&to=140&var=R69S	ENST00000373983		ENSG00000119401	16380		25	0.895		HGNC	p.R69S		TRIM32		SNV			1				ENST00000411410	protein_coding	getma.org/?cm=var&var=hg19,9,119460226,C,A&fts=all		Gene3D:3.30.40.10,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308,Superfamily_domains:SSF57850		R/S		A	low	335/3688		getma.org/?cm=msa&ty=f&p=TRI32_HUMAN&rb=64&re=140&var=R69S	tolerated(0.44)	Q5JVY0_HUMAN				TRIM32,missense_variant,p.Arg69Ser,ENST00000450136,NM_012210.3,NM_001099679.1;TRIM32,missense_variant,p.Arg69Ser,ENST00000373983,;TRIM32,missense_variant,p.Arg69Ser,ENST00000411410,;ASTN2,intron_variant,,ENST00000313400,;ASTN2,intron_variant,,ENST00000373996,;ASTN2,intron_variant,,ENST00000361209,NM_014010.4;ASTN2,intron_variant,,ENST00000361477,;ASTN2,intron_variant,,ENST00000373986,;							MODERATE	205/1962	R69S	TRI32_HUMAN			Transcript		benign(0.06)	.	ENSP00000363095		CCDS6817.1			1	
PLCE1	0	LGGM	GRCh37	10	95994041	95994041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	30	3	.	.	ENST00000371380.3:c.2186G>T	p.Arg729Leu	p.R729L	ENST00000371380		729	cGg/cTg	0	1		UPI00001F93EE	0	NA	ENST00000260766		ENSG00000138193	17175		33	0.69		HGNC	p.R421L		PLCE1		SNV			1				ENST00000371385	protein_coding	getma.org/?cm=var&var=hg19,10,95994041,G,T&fts=all		PROSITE_profiles:PS50009,SMART_domains:SM00147		R/L		T	neutral	2820/7992		getma.org/?cm=msa&ty=f&p=PLCE1_HUMAN&rb=530&re=729&var=R729L	deleterious(0.02)	B7ZM61_HUMAN				PLCE1,missense_variant,p.Arg729Leu,ENST00000371380,;PLCE1,missense_variant,p.Arg729Leu,ENST00000260766,NM_016341.3;PLCE1,missense_variant,p.Arg421Leu,ENST00000371375,;PLCE1,missense_variant,p.Arg421Leu,ENST00000371385,NM_001165979.1;							MODERATE	2186/6909	R729L	PLCE1_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000260766		CCDS41552.1			1	
CD81	0	LGGM	GRCh37	11	2415310	2415310	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	7	3	.	.	ENST00000263645.5:c.182-15C>G		*61*	ENST00000263645	NM_004356.3			0	1	1	UPI0000047033	0		ENST00000263645		ENSG00000110651	1701		10			HGNC	p.S62C		CD81		SNV			1				ENST00000481687	protein_coding							G		-/1520				E9PPF5_HUMAN,E9PM31_HUMAN,E9PJK1_HUMAN			YES	CD81,missense_variant,p.Ser62Cys,ENST00000481687,;CD81,intron_variant,,ENST00000263645,NM_004356.3;CD81,intron_variant,,ENST00000526072,;CD81,intron_variant,,ENST00000492252,;CD81,intron_variant,,ENST00000492627,;CD81,intron_variant,,ENST00000381036,;CD81,intron_variant,,ENST00000464784,;CD81,intron_variant,,ENST00000527343,;CD81,intron_variant,,ENST00000475945,;CD81,intron_variant,,ENST00000530648,;CD81,intron_variant,,ENST00000533417,;CD81,intron_variant,,ENST00000493525,;CD81,intron_variant,,ENST00000524805,;CD81,non_coding_transcript_exon_variant,,ENST00000531840,;CD81,intron_variant,,ENST00000530239,;CD81,upstream_gene_variant,,ENST00000468153,;CD81,upstream_gene_variant,,ENST00000481386,;							MODIFIER	-/711		CD81_HUMAN			Transcript			.	ENSP00000263645		CCDS7734.1			1	
USP28	0	LGGM	GRCh37	11	113704970	113704970	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	4	.	.	ENST00000003302.4:c.621+1G>T		p.X207_splice	ENST00000003302	NM_020886.2			0	1	1	UPI0000137A00	0		ENST00000003302		ENSG00000048028	12625		38			HGNC	-		USP28		SNV							ENST00000003302	protein_coding							A		-/4669				Q96SV4_HUMAN			YES	USP28,splice_donor_variant,,ENST00000003302,NM_020886.2;USP28,splice_donor_variant,,ENST00000260188,;USP28,splice_donor_variant,,ENST00000545540,;USP28,splice_donor_variant,,ENST00000537706,;USP28,intron_variant,,ENST00000537642,;USP28,upstream_gene_variant,,ENST00000544967,;USP28,upstream_gene_variant,,ENST00000538475,;USP28,splice_donor_variant,,ENST00000542033,;USP28,splice_donor_variant,,ENST00000540438,;USP28,upstream_gene_variant,,ENST00000545608,;USP28,upstream_gene_variant,,ENST00000535607,;USP28,upstream_gene_variant,,ENST00000537490,;							HIGH	621/3234		UBP28_HUMAN			Transcript			.	ENSP00000003302		CCDS31680.1			1	
COL4A2	0	LGGM	GRCh37	13	111099144	111099144	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	4	.	.	ENST00000360467.5:c.1012-1G>T		p.X338_splice	ENST00000360467	NM_001846.2			0	1	1	UPI000041C713	0		ENST00000360467		ENSG00000134871	2203		27			HGNC	-		COL4A2		SNV			1				ENST00000360467	protein_coding							T		-/6281				A2A352_HUMAN			YES	COL4A2,splice_acceptor_variant,,ENST00000360467,NM_001846.2;							HIGH	1012/5139		CO4A2_HUMAN			Transcript			.	ENSP00000353654		CCDS41907.1			1	
CD9	0	LGGM	GRCh37	12	6344661	6344661	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	4	.	.	ENST00000382518.1:c.467C>A	p.Ala156Asp	p.A156D	ENST00000382518		156	gCt/gAt	0	1		UPI000003B45A	0	NA	ENST00000009180		ENSG00000010278	1709		14	-0.17		HGNC	p.A156D		CD9		SNV							ENST00000009180	protein_coding	getma.org/?cm=var&var=hg19,12,6344661,C,A&fts=all		Superfamily_domains:0037997,Gene3D:1g8qA00,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF163		A/D		A	neutral	518/1169		getma.org/?cm=msa&ty=f&p=CD9_HUMAN&rb=9&re=221&var=A156D	tolerated(0.62)	F5GXT1_HUMAN,B4DPP0_HUMAN,A6NNI4_HUMAN				CD9,missense_variant,p.Ala156Asp,ENST00000382518,;CD9,missense_variant,p.Ala87Asp,ENST00000382515,;CD9,missense_variant,p.Ala156Asp,ENST00000009180,NM_001769.3;CD9,missense_variant,p.Ala179Asp,ENST00000382519,;CD9,downstream_gene_variant,,ENST00000536586,;Y_RNA,upstream_gene_variant,,ENST00000365448,;CD9,non_coding_transcript_exon_variant,,ENST00000481267,;CD9,non_coding_transcript_exon_variant,,ENST00000540891,;CD9,downstream_gene_variant,,ENST00000546073,;CD9,downstream_gene_variant,,ENST00000543916,;CD9,downstream_gene_variant,,ENST00000538834,;							MODERATE	467/687	A156D	CD9_HUMAN			Transcript		benign(0.063)	.	ENSP00000009180		CCDS8540.1			1	
RITA1	0	LGGM	GRCh37	12	113629476	113629476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000548278.1:c.664G>T	p.Gly222Trp	p.G222W	ENST00000548278	NM_032848.1	222	Ggg/Tgg	0	1	1	UPI0000037271	0	NA	ENST00000548278		ENSG00000139405	25925		17	1.935		HGNC	p.G222W		RITA1		SNV							ENST00000548278	protein_coding	getma.org/?cm=var&var=hg19,12,113629476,G,T&fts=all				G/W		T	medium	1356/2053		getma.org/?cm=msa&ty=f&p=RITA_HUMAN&rb=1&re=267&var=G222W	deleterious(0.01)				YES	RITA1,missense_variant,p.Gly222Trp,ENST00000548278,NM_032848.1;RITA1,missense_variant,p.Gly222Trp,ENST00000549621,;RITA1,missense_variant,p.Gly246Trp,ENST00000552495,NM_001286215.1;IQCD,downstream_gene_variant,,ENST00000416617,;IQCD,downstream_gene_variant,,ENST00000299732,NM_138451.1;RP11-545P7.4,intron_variant,,ENST00000552525,;							MODERATE	664/810	G222W	RITA_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000449841		CCDS9166.1			1	
PLAU	0	LGGM	GRCh37	10	75671981	75671981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	4	.	.	ENST00000372764.3:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000372764	NM_002658.3	32	Gac/Tac	0	1		UPI000013CB02	0	NA	ENST00000372764		ENSG00000122861	9052		20	0		HGNC	p.D15Y		PLAU		SNV			1				ENST00000446342	protein_coding	getma.org/?cm=var&var=hg19,10,75671981,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24264,hmmpanther:PTHR24264:SF9		D/Y		T	neutral	187/2321		getma.org/?cm=msa&ty=f&p=CJ055_HUMAN&rb=1&re=151&var=H8N	tolerated(0.18)	S4R3G7_HUMAN,Q9UEJ5_HUMAN,Q96SE8_HUMAN			YES	PLAU,missense_variant,p.Asp15Tyr,ENST00000446342,NM_001145031.1;C10orf55,missense_variant,p.His8Asn,ENST00000409178,NM_001001791.2;C10orf55,missense_variant,p.His8Asn,ENST00000412307,;PLAU,missense_variant,p.Asp32Tyr,ENST00000372764,NM_002658.3;PLAU,missense_variant,p.Asp32Tyr,ENST00000481390,;PLAU,intron_variant,,ENST00000372762,;PLAU,non_coding_transcript_exon_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;							MODERATE	94/1296	H8N	UROK_HUMAN			Transcript		benign(0.071)	.	ENSP00000361850		CCDS7339.1			1	
CNGB1	0	LGGM	GRCh37	16	57950041	57950041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000251102.8:c.2209C>A	p.Arg737Ser	p.R737S	ENST00000251102	NM_001297.4	737	Cgc/Agc	0	1	1	UPI000013CCDF	0	NA	ENST00000251102	uncertain_significance	ENSG00000070729	2151		41	1.3		HGNC	p.R737S	rs192843629	CNGB1	6.06E-05	SNV	A:0.0003		1			1	ENST00000251102	protein_coding	getma.org/?cm=var&var=hg19,16,57950041,G,T&fts=all	A:0	Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF386,Superfamily_domains:SSF81324		R/S	A:0.0006	T	low	2270/4179		getma.org/?cm=msa&ty=f&p=CNGB1_HUMAN&rb=601&re=800&var=R737S	deleterious(0)	H3BQC3_HUMAN	A:0	A:0	YES	CNGB1,missense_variant,p.Arg731Ser,ENST00000564448,NM_001286130.1;CNGB1,missense_variant,p.Arg737Ser,ENST00000251102,NM_001297.4;CNGB1,upstream_gene_variant,,ENST00000569643,;		A:0.0002					MODERATE	2209/3756	R737S	CNGB1_HUMAN		A:0.001	Transcript		benign(0.093)	.	ENSP00000251102	8.27E-06	CCDS42169.1		A:0	1	
ZNF514	0	LGGM	GRCh37	2	95815464	95815464	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000295208.2:c.766G>T	p.Gly256Ter	p.G256*	ENST00000295208	NM_032788.1	256	Gga/Tga	0	1	1	UPI0000070647	0	NA	ENST00000295208		ENSG00000144026	25894		44	0		HGNC	p.G256X		ZNF514		SNV							ENST00000295208	protein_coding	getma.org/?cm=var&var=hg19,2,95815464,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF2,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		G/*		A	NA	1229/3011		NA		Q658L7_HUMAN			YES	ZNF514,stop_gained,p.Gly256Ter,ENST00000295208,NM_032788.1;ZNF514,stop_gained,p.Gly256Ter,ENST00000411425,;ZNF514,downstream_gene_variant,,ENST00000447814,;MRPS5,upstream_gene_variant,,ENST00000475040,;ZNF514,non_coding_transcript_exon_variant,,ENST00000496060,;							HIGH	766/1203	G256*	ZN514_HUMAN			Transcript			.	ENSP00000295208		CCDS2011.1			1	
BCL9	0	LGGM	GRCh37	1	147095986	147095986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	4	.	.	ENST00000234739.3:c.3507G>T	p.Met1169Ile	p.M1169I	ENST00000234739	NM_004326.3	1169	atG/atT	0	1	1	UPI000013C9B9	0	NA	ENST00000234739		ENSG00000116128	1008		18	1.245		HGNC	p.M1169I		BCL9		SNV							ENST00000234739	protein_coding	getma.org/?cm=var&var=hg19,1,147095986,G,T&fts=all		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5,Low_complexity_(Seg):seg		M/I		T	low	4247/6278		getma.org/?cm=msa&ty=f&p=BCL9_HUMAN&rb=990&re=1189&var=M1169I	tolerated(0.11)				YES	BCL9,missense_variant,p.Met1169Ile,ENST00000234739,NM_004326.3;							MODERATE	3507/4281	M1169I	BCL9_HUMAN			Transcript		benign(0.003)	.	ENSP00000234739		CCDS30833.1			1	
PLOD1	0	LGGM	GRCh37	1	12034823	12034823	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	4	.	.	ENST00000196061.4:c.2142C>A	p.Thr714=	p.T714=	ENST00000196061	NM_000302.3	714	acC/acA	0	1	1	UPI000013C611	0		ENST00000196061		ENSG00000083444	9081		9			HGNC	p.T714T		PLOD1		SNV			1				ENST00000196061	protein_coding			PROSITE_profiles:PS51471,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF5,Pfam_domain:PF03171,SMART_domains:SM00702		T		A		2169/2940				Q9UL44_HUMAN			YES	PLOD1,synonymous_variant,p.=,ENST00000196061,NM_000302.3;PLOD1,synonymous_variant,p.=,ENST00000376369,;PLOD1,intron_variant,,ENST00000491536,;PLOD1,non_coding_transcript_exon_variant,,ENST00000481933,;							LOW	2142/2184		PLOD1_HUMAN			Transcript			.	ENSP00000196061		CCDS142.1			1	
ACSL6	0	LGGM	GRCh37	5	131312341	131312341	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000379264.2:c.990G>T	p.Glu330Asp	p.E330D	ENST00000379264	NM_001009185.2	330	gaG/gaT	0	1		UPI000048062A	0	getma.org/pdb.php?prot=ACSL6_HUMAN&from=122&to=588&var=E305D	ENST00000379240		ENSG00000164398	16496		35	1.16		HGNC	p.E320D		ACSL6		SNV							ENST00000379272	protein_coding	getma.org/?cm=var&var=hg19,5,131312341,C,A&fts=all		hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF125,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		E/D		A	low	1069/2548		getma.org/?cm=msa&ty=f&p=ACSL6_HUMAN&rb=122&re=588&var=E305D	tolerated(0.11)	G3V1S9_HUMAN,C9JPA5_HUMAN,C9JK59_HUMAN,C9J4I1_HUMAN,C9J3Z0_HUMAN,B3KV64_HUMAN				ACSL6,missense_variant,p.Glu330Asp,ENST00000379264,NM_001009185.2;ACSL6,missense_variant,p.Glu320Asp,ENST00000379272,;ACSL6,missense_variant,p.Glu270Asp,ENST00000357096,;ACSL6,missense_variant,p.Glu305Asp,ENST00000379244,;ACSL6,missense_variant,p.Glu316Asp,ENST00000379246,NM_001205250.1;ACSL6,missense_variant,p.Glu330Asp,ENST00000296869,NM_015256.3,NM_001205247.1;ACSL6,missense_variant,p.Glu305Asp,ENST00000379240,;ACSL6,missense_variant,p.Glu214Asp,ENST00000544770,;ACSL6,missense_variant,p.Glu270Asp,ENST00000379255,NM_001205251.1;ACSL6,missense_variant,p.Glu305Asp,ENST00000543479,NM_001205248.1;ACSL6,missense_variant,p.Glu305Asp,ENST00000379249,;ACSL6,missense_variant,p.Glu285Asp,ENST00000431707,;ACSL6,missense_variant,p.Glu270Asp,ENST00000434099,;ACSL6,missense_variant,p.Glu305Asp,ENST00000413683,;ACSL6,upstream_gene_variant,,ENST00000493861,;ACSL6,upstream_gene_variant,,ENST00000484870,;							MODERATE	915/2094	E305D	ACSL6_HUMAN			Transcript		benign(0.243)	.	ENSP00000368542					1	
TTLL2	0	LGGM	GRCh37	6	167754594	167754594	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000239587.5:c.1206G>T	p.Leu402Phe	p.L402F	ENST00000239587	NM_031949.4	402	ttG/ttT	0	1	1	UPI00001A3A8B	0	getma.org/pdb.php?prot=TTLL2_HUMAN&from=131&to=423&var=L402F	ENST00000239587		ENSG00000120440	21211		49	1.005		HGNC	p.L402F		TTLL2		SNV							ENST00000515138	protein_coding	getma.org/?cm=var&var=hg19,6,167754594,G,T&fts=all		PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF90,Pfam_domain:PF03133,Superfamily_domains:SSF56059		L/F		T	low	1294/2075		getma.org/?cm=msa&ty=f&p=TTLL2_HUMAN&rb=131&re=423&var=L402F	tolerated(0.06)				YES	TTLL2,missense_variant,p.Leu402Phe,ENST00000239587,NM_031949.4;TTLL2,missense_variant,p.Leu402Phe,ENST00000515138,;TTLL2,downstream_gene_variant,,ENST00000512917,;							MODERATE	1206/1779	L402F	TTLL2_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000239587		CCDS5301.1			1	
FANCM	0	LGGM	GRCh37	14	45645029	45645029	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	4	.	.	ENST00000267430.5:c.3072C>A	p.Pro1024=	p.P1024=	ENST00000267430	NM_020937.2	1024	ccC/ccA	0	1	1	UPI000059F032	0		ENST00000267430		ENSG00000187790	23168		25			HGNC	p.P1024P	COSM1300617	FANCM		SNV			1			1	ENST00000267430	protein_coding			hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		P		A		3157/7111							YES	FANCM,synonymous_variant,p.=,ENST00000267430,NM_020937.2;FANCM,synonymous_variant,p.=,ENST00000542564,;FANCM,synonymous_variant,p.=,ENST00000556250,;FANCM,upstream_gene_variant,,ENST00000554809,;					1		LOW	3072/6147		FANCM_HUMAN			Transcript			.	ENSP00000267430		CCDS32070.1			1	
KCNH1	0	LGGM	GRCh37	1	210857060	210857060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	4	.	.	ENST00000271751.4:c.2533G>T	p.Gly845Trp	p.G845W	ENST00000271751		845	Ggg/Tgg	0	1	1	UPI000003230D	0	NA	ENST00000271751		ENSG00000143473	6250		29	1.7		HGNC	p.G818W		KCNH1		SNV			1				ENST00000367007	protein_coding	getma.org/?cm=var&var=hg19,1,210857060,C,A&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377		G/W		A	low	2561/3066		getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=687&re=886&var=G845W	deleterious_low_confidence(0)				YES	KCNH1,missense_variant,p.Gly818Trp,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Gly845Trp,ENST00000271751,;							MODERATE	2533/2970	G845W	KCNH1_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000271751		CCDS1496.1			1	
POLR2A	0	LGGM	GRCh37	17	7415167	7415167	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	4	.	.	ENST00000322644.6:c.4139G>T	p.Arg1380Leu	p.R1380L	ENST00000322644	NM_000937.4	1380	cGg/cTg	0	1	1	UPI0000140EB9	0	getma.org/pdb.php?prot=RPB1_HUMAN&from=830&to=1428&var=R1380L	ENST00000322644		ENSG00000181222	9187		13	2.5		HGNC	p.R1380L		POLR2A		SNV							ENST00000322644	protein_coding	getma.org/?cm=var&var=hg19,17,7415167,G,T&fts=all		Pfam_domain:PF04998,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484		R/L		T	medium	4538/6749		getma.org/?cm=msa&ty=f&p=RPB1_HUMAN&rb=830&re=1428&var=R1380L					YES	POLR2A,missense_variant,p.Arg1380Leu,ENST00000322644,NM_000937.4;POLR2A,non_coding_transcript_exon_variant,,ENST00000576553,;POLR2A,downstream_gene_variant,,ENST00000573603,;							MODERATE	4139/5913	R1380L	RPB1_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000314949		CCDS32548.1			1	
GINM1	0	LGGM	GRCh37	6	149903724	149903724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000367419.5:c.866C>A	p.Pro289Gln	p.P289Q	ENST00000367419	NM_138785.3	289	cCa/cAa	0	1	1	UPI0000049E0C	0	NA	ENST00000367419		ENSG00000055211	21074		35	2.175		HGNC	p.P289Q		GINM1		SNV							ENST00000367419	protein_coding	getma.org/?cm=var&var=hg19,6,149903724,C,A&fts=all				P/Q		A	medium	987/2024		getma.org/?cm=msa&ty=f&p=CF072_HUMAN&rb=13&re=328&var=P289Q	deleterious(0)				YES	GINM1,missense_variant,p.Pro289Gln,ENST00000367419,NM_138785.3;GINM1,downstream_gene_variant,,ENST00000433539,;							MODERATE	866/993	P289Q	GINM1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000356389		CCDS5216.1			1	
HSD3B2	0	LGGM	GRCh37	1	119962125	119962125	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	4	.	.	ENST00000543831.1:c.227C>A	p.Ser76Ter	p.S76*	ENST00000543831	NM_001166120.1	76	tCg/tAg	0	1		UPI0000001C6C	0	NA	ENST00000369416		ENSG00000203859	5218		25	0		HGNC	p.S76X		HSD3B2		SNV			1				ENST00000543831	protein_coding	getma.org/?cm=var&var=hg19,1,119962125,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF296,Superfamily_domains:SSF51735		S/*		A	NA	435/1741		NA		Q5QP01_HUMAN				HSD3B2,stop_gained,p.Ser76Ter,ENST00000543831,NM_001166120.1;HSD3B2,stop_gained,p.Ser76Ter,ENST00000369416,NM_000198.3;HSD3B2,stop_gained,p.Ser76Ter,ENST00000433745,;HSD3B2,non_coding_transcript_exon_variant,,ENST00000471656,;HSD3B2,non_coding_transcript_exon_variant,,ENST00000443865,;HSD3B2,non_coding_transcript_exon_variant,,ENST00000448448,;							HIGH	227/1119	S76*	3BHS2_HUMAN			Transcript			.	ENSP00000358424		CCDS902.1			1	
LYST	0	LGGM	GRCh37	1	235952086	235952086	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	4	.	.	ENST00000389794.3:c.4603G>T	p.Gly1535Ter	p.G1535*	ENST00000389794		1535	Gga/Tga	0	1		UPI000020509E	0	NA	ENST00000389793		ENSG00000143669	1968		29	0		HGNC	p.G1535X		LYST		SNV			1				ENST00000389793	protein_coding	getma.org/?cm=var&var=hg19,1,235952086,C,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60		G/*		A	NA	4778/13471		NA						LYST,stop_gained,p.Gly1535Ter,ENST00000389794,;LYST,stop_gained,p.Gly1535Ter,ENST00000389793,NM_000081.3;LYST,3_prime_UTR_variant,,ENST00000536965,;LYST,non_coding_transcript_exon_variant,,ENST00000489585,;LYST,non_coding_transcript_exon_variant,,ENST00000492844,;LYST,downstream_gene_variant,,ENST00000465349,;							HIGH	4603/11406	G1535*	LYST_HUMAN			Transcript			.	ENSP00000374443		CCDS31062.1			1	
PIKFYVE	0	LGGM	GRCh37	2	209179988	209179988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000264380.4:c.1898G>T	p.Trp633Leu	p.W633L	ENST00000264380	NM_015040.3	633	tGg/tTg	0	1	1	UPI0000366FD6	0	getma.org/pdb.php?prot=FYV1_HUMAN&from=592&to=867&var=W633L	ENST00000264380		ENSG00000115020	23785		39	3.285		HGNC	p.W577L		PIKFYVE		SNV			1				ENST00000452564	protein_coding	getma.org/?cm=var&var=hg19,2,209179988,G,T&fts=all		Superfamily_domains:SSF54849,Pfam_domain:PF00118,Gene3D:3.30.260.10,hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353		W/L		T	medium	2056/9901		getma.org/?cm=msa&ty=f&p=FYV1_HUMAN&rb=592&re=867&var=W633L	deleterious(0)				YES	PIKFYVE,missense_variant,p.Trp633Leu,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Trp577Leu,ENST00000452564,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;							MODERATE	1898/6297	W633L	FYV1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264380		CCDS2382.1			1	
PCDHA8	0	LGGM	GRCh37	5	140221869	140221869	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	4	.	.	ENST00000531613.1:c.963C>A	p.Asp321Glu	p.D321E	ENST00000531613	NM_018911.2	321	gaC/gaA	0	1	1	UPI00001273D0	0	getma.org/pdb.php?prot=PCDA8_HUMAN&from=247&to=341&var=D321E	ENST00000531613		ENSG00000204962	8674		38	-1.605		HGNC	p.D321E		PCDHA8		SNV							ENST00000531613	protein_coding	getma.org/?cm=var&var=hg19,5,140221869,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/E		A	neutral	963/5260		getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=247&re=341&var=D321E	tolerated_low_confidence(1)				YES	PCDHA8,missense_variant,p.Asp321Glu,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Asp321Glu,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,;							MODERATE	963/2853	D321E	PCDA8_HUMAN			Transcript		benign(0.002)	.	ENSP00000434655		CCDS54919.1			1	
C12orf54	0	LGGM	GRCh37	12	48883007	48883007	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	27	4	.	.	ENST00000314014.2:c.168+268G>T		*56*	ENST00000314014	NM_152319.3			0	1	1	UPI000007267F	0		ENST00000314014		ENSG00000177627	28553		31			HGNC	p.V99V		C12orf54		SNV							ENST00000380491	protein_coding							T		-/887				H0YIT5_HUMAN			YES	C12orf54,intron_variant,,ENST00000314014,NM_152319.3;C12orf54,intron_variant,,ENST00000548364,;RP11-722P11.4,intron_variant,,ENST00000551847,;C12orf54,downstream_gene_variant,,ENST00000548913,;C12orf54,synonymous_variant,p.=,ENST00000380491,;C12orf54,upstream_gene_variant,,ENST00000549398,;C12orf54,upstream_gene_variant,,ENST00000551266,;RPS10P20,downstream_gene_variant,,ENST00000494130,;							MODIFIER	-/384		CL054_HUMAN			Transcript			.	ENSP00000316898		CCDS8764.1			1	
DAAM2	0	LGGM	GRCh37	6	39845989	39845989	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	4	.	.	ENST00000398904.2:c.1312G>T	p.Glu438Ter	p.E438*	ENST00000398904		438	Gag/Tag	0	1		UPI000020DC88	0	NA	ENST00000274867		ENSG00000146122	18143		82	0		HGNC	p.E438X		DAAM2		SNV							ENST00000538976	protein_coding	getma.org/?cm=var&var=hg19,6,39845989,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213		E/*		T	NA	1468/6194		NA						DAAM2,stop_gained,p.Glu438Ter,ENST00000538976,NM_015345.3;DAAM2,stop_gained,p.Glu438Ter,ENST00000398904,;DAAM2,stop_gained,p.Glu438Ter,ENST00000274867,NM_001201427.1;RP11-61I13.3,downstream_gene_variant,,ENST00000607675,;DAAM2,non_coding_transcript_exon_variant,,ENST00000491083,;							HIGH	1312/3207	E438*	DAAM2_HUMAN			Transcript			.	ENSP00000274867		CCDS56426.1			1	
CCL14	0	LGGM	GRCh37	17	34311486	34311486	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000536149.1:c.130G>T	p.Gly44Ter	p.G44*	ENST00000536149		44	Gga/Tga	0	1	1	UPI000002B47E	0		ENST00000536149		ENSG00000213494	10612		17			HGNC	p.G28X		CCL14		SNV							ENST00000586216	protein_coding			Superfamily_domains:SSF54117,hmmpanther:PTHR12015:SF75,hmmpanther:PTHR12015		G/*		A		1142/1487							YES	CCL14,stop_gained,p.Gly50Ter,ENST00000480944,;CCL14,stop_gained,p.Gly44Ter,ENST00000536149,;CCL14,stop_gained,p.Gly28Ter,ENST00000394509,;CCL14,stop_gained,p.Gly44Ter,ENST00000435911,NM_032962.4;CCL14,stop_gained,p.Gly28Ter,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,splice_region_variant,,ENST00000481427,;CCL15-CCL14,splice_region_variant,,ENST00000495214,;CCL16,upstream_gene_variant,,ENST00000586567,;							HIGH	130/330		CCL14_HUMAN			Transcript			.	ENSP00000441771		CCDS45652.1			1	
PCDH17	0	LGGM	GRCh37	13	58207675	58207675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	4	.	.	ENST00000377918.3:c.995C>A	p.Pro332Gln	p.P332Q	ENST00000377918	NM_001040429.2	332	cCa/cAa	0	1	1	UPI00001FCE5B	0	getma.org/pdb.php?prot=PCD17_HUMAN&from=248&to=342&var=P332Q	ENST00000377918		ENSG00000118946	14267		22	1.715		HGNC	p.P332Q		PCDH17		SNV							ENST00000484979	protein_coding	getma.org/?cm=var&var=hg19,13,58207675,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/Q		A	low	1021/7523		getma.org/?cm=msa&ty=f&p=PCD17_HUMAN&rb=248&re=342&var=P332Q	deleterious(0)				YES	PCDH17,missense_variant,p.Pro332Gln,ENST00000377918,NM_001040429.2;PCDH17,missense_variant,p.Pro332Gln,ENST00000484979,;							MODERATE	995/3480	P332Q	PCD17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367151		CCDS31986.1			1	
FRMPD1	0	LGGM	GRCh37	9	37692723	37692723	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	4	.	.	ENST00000539465.1:c.85C>A	p.Arg29=	p.R29=	ENST00000539465		29	Cgg/Agg	0	1		UPI000013D2CC	0		ENST00000377765		ENSG00000070601	29159		14			HGNC	p.R29R		FRMPD1		SNV							ENST00000377765	protein_coding			hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		R		A		184/4971				F5H0G3_HUMAN				FRMPD1,synonymous_variant,p.=,ENST00000539465,;FRMPD1,synonymous_variant,p.=,ENST00000377765,NM_014907.2;FRMPD1,synonymous_variant,p.=,ENST00000359927,;RP11-613M10.9,intron_variant,,ENST00000540557,;							LOW	85/4737		FRPD1_HUMAN			Transcript			.	ENSP00000366995		CCDS6612.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18777048	18777048	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000380548.4:c.2821G>C	p.Asp941His	p.D941H	ENST00000380548	NM_001040272.5	941	Gat/Cat	0	1	1	UPI000004FD83	0	getma.org/pdb.php?prot=ATL1_HUMAN&from=891&to=954&var=D941H	ENST00000380548		ENSG00000178031	14632		17	2.575		HGNC	p.D941H		ADAMTSL1		SNV							ENST00000380548	protein_coding	getma.org/?cm=var&var=hg19,9,18777048,G,C&fts=all		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		D/H		C	medium	3160/8030		getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=891&re=954&var=D941H	deleterious(0.01)	H7BYE3_HUMAN			YES	ADAMTSL1,missense_variant,p.Asp941His,ENST00000380548,NM_001040272.5;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;							MODERATE	2821/5289	D941H	ATL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369921		CCDS47954.1			1	
UIMC1	0	LGGM	GRCh37	5	176332480	176332480	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	4	.	.	ENST00000377227.4:c.1963G>T	p.Gly655Trp	p.G655W	ENST00000377227		655	Ggg/Tgg	0	1	1	UPI00001A9954	0	NA	ENST00000377227		ENSG00000087206	30298		27	1.355		HGNC	p.G489W		UIMC1		SNV							ENST00000506128	protein_coding	getma.org/?cm=var&var=hg19,5,176332480,C,A&fts=all		hmmpanther:PTHR15932,hmmpanther:PTHR15932:SF2		G/W		A	low	2096/2570		getma.org/?cm=msa&ty=f&p=UIMC1_HUMAN&rb=1&re=717&var=G655W	deleterious(0.01)	D6RDZ5_HUMAN,D6RC40_HUMAN,D6R9M3_HUMAN			YES	UIMC1,missense_variant,p.Gly656Trp,ENST00000377219,NM_016290.4;UIMC1,missense_variant,p.Gly655Trp,ENST00000377227,;UIMC1,missense_variant,p.Gly655Trp,ENST00000511320,NM_001199297.1,NM_001199298.1;UIMC1,missense_variant,p.Gly489Trp,ENST00000506128,;UIMC1,downstream_gene_variant,,ENST00000503273,;UIMC1,3_prime_UTR_variant,,ENST00000512031,;UIMC1,3_prime_UTR_variant,,ENST00000510698,;UIMC1,non_coding_transcript_exon_variant,,ENST00000510376,;UIMC1,downstream_gene_variant,,ENST00000505229,;							MODERATE	1963/2160	G655W	UIMC1_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000366434		CCDS4408.1			1	
DDX60	0	LGGM	GRCh37	4	169188786	169188786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	4	.	.	ENST00000393743.3:c.2986G>T	p.Gly996Cys	p.G996C	ENST00000393743	NM_017631.5	996	Ggt/Tgt	0	1	1	UPI000020B6AB	0	NA	ENST00000393743		ENSG00000137628	25942		47	1.7		HGNC	p.G996C		DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169188786,C,A&fts=all		hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752		G/C		A	low	3278/6071		getma.org/?cm=msa&ty=f&p=DDX60_HUMAN&rb=937&re=1150&var=G996C	deleterious(0.01)	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,missense_variant,p.Gly996Cys,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000505393,;DDX60,missense_variant,p.Gly87Cys,ENST00000513997,;							MODERATE	2986/5139	G996C	DDX60_HUMAN			Transcript		possibly_damaging(0.664)	.	ENSP00000377344		CCDS34097.1			1	
PHKA2	0	LGGM	GRCh37	X	18915354	18915354	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	4	.	.	ENST00000379942.4:c.3209G>T	p.Arg1070Met	p.R1070M	ENST00000379942	NM_000292.2	1070	aGg/aTg	0	1	1	UPI000012DF4B	0	NA	ENST00000379942		ENSG00000044446	8926		20	3.165		HGNC	p.R1070M		PHKA2		SNV			1				ENST00000379942	protein_coding	getma.org/?cm=var&var=hg19,X,18915354,C,A&fts=all		hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5		R/M		A	medium	3875/5559		getma.org/?cm=msa&ty=f&p=KPB2_HUMAN&rb=920&re=1119&var=R1070M	deleterious(0)				YES	PHKA2,missense_variant,p.Arg1070Met,ENST00000379942,NM_000292.2;PHKA2-AS1,downstream_gene_variant,,ENST00000452900,;PHKA2-AS1,downstream_gene_variant,,ENST00000439295,;PHKA2,non_coding_transcript_exon_variant,,ENST00000469485,;PHKA2,non_coding_transcript_exon_variant,,ENST00000473739,;PHKA2,non_coding_transcript_exon_variant,,ENST00000469645,;PHKA2,upstream_gene_variant,,ENST00000481718,;PHKA2,upstream_gene_variant,,ENST00000473597,;PHKA2,downstream_gene_variant,,ENST00000486231,;							MODERATE	3209/3708	R1070M	KPB2_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000369274		CCDS14190.1			1	
MED29	0	LGGM	GRCh37	19	39882229	39882229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000315588.5:c.230C>A	p.Pro77His	p.P77H	ENST00000315588	NM_017592.1	77	cCt/cAt	0	1		UPI0000073695	0	NA	ENST00000599213		ENSG00000063322	23074		17	1.355		HGNC	p.P66H		MED29		SNV							ENST00000594368	protein_coding	getma.org/?cm=var&var=hg19,19,39882229,C,A&fts=all		Pfam_domain:PF11568		P/H		A	low	194/2490		getma.org/?cm=msa&ty=f&p=MED29_HUMAN&rb=51&re=194&var=P56H	tolerated(0.11)	B4DN56_HUMAN,B4DGM4_HUMAN				MED29,missense_variant,p.Pro77His,ENST00000315588,NM_017592.1;MED29,missense_variant,p.Pro56His,ENST00000599213,;MED29,missense_variant,p.Pro56His,ENST00000594368,;MED29,missense_variant,p.Pro56His,ENST00000596297,;PAF1,upstream_gene_variant,,ENST00000221265,NM_019088.3;PAF1,upstream_gene_variant,,ENST00000595564,NM_001256826.1;PAF1,upstream_gene_variant,,ENST00000221266,;PAF1,upstream_gene_variant,,ENST00000595379,;MED29,missense_variant,p.Pro77His,ENST00000599417,;MED29,missense_variant,p.Pro56His,ENST00000600973,;PAF1,upstream_gene_variant,,ENST00000416728,;PAF1,upstream_gene_variant,,ENST00000595797,;PAF1,upstream_gene_variant,,ENST00000597365,;PAF1,upstream_gene_variant,,ENST00000598127,;PAF1,upstream_gene_variant,,ENST00000598594,;							MODERATE	167/603	P56H	MED29_HUMAN			Transcript		possibly_damaging(0.716)	.	ENSP00000471802					1	
AKAP6	0	LGGM	GRCh37	14	33292606	33292606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000280979.4:c.5587G>T	p.Gly1863Cys	p.G1863C	ENST00000280979	NM_004274.4	1863	Ggt/Tgt	0	1	1	UPI000013DC48	0	NA	ENST00000280979		ENSG00000151320	376		36	1.78		HGNC	p.G1863C		AKAP6		SNV							ENST00000280979	protein_coding	getma.org/?cm=var&var=hg19,14,33292606,G,T&fts=all		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		G/C		T	low	5757/8686		getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=G1863C	deleterious(0)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,missense_variant,p.Gly1863Cys,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							MODERATE	5587/6960	G1863C	AKAP6_HUMAN			Transcript		possibly_damaging(0.681)	.	ENSP00000280979		CCDS9644.1			1	
HECTD4	0	LGGM	GRCh37	12	112696371	112696371	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	67	4	.	.	ENST00000550722.1:c.2619G>T	p.Pro873=	p.P873=	ENST00000550722	NM_001109662.3	873	ccG/ccT	0	1	1	UPI00020CE513	0		ENST00000550722		ENSG00000173064	26611		71			HGNC	p.P81P		HECTD4		SNV							ENST00000547352	protein_coding					P		A		3015/15405				F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,synonymous_variant,p.=,ENST00000550722,NM_001109662.3;HECTD4,synonymous_variant,p.=,ENST00000377560,;HECTD4,synonymous_variant,p.=,ENST00000430131,;RP3-521E19.2,non_coding_transcript_exon_variant,,ENST00000547401,;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;HECTD4,non_coding_transcript_exon_variant,,ENST00000547352,;							LOW	2619/12819					Transcript			.	ENSP00000449784					1	
RRP12	0	LGGM	GRCh37	10	99125924	99125924	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	29	4	.	.	ENST00000370992.4:c.3458G>T	p.Arg1153Leu	p.R1153L	ENST00000370992	NM_015179.3	1153	cGg/cTg	0	1	1	UPI000013E51C	0	NA	ENST00000370992		ENSG00000052749	29100		33	3.04		HGNC	p.R871L		RRP12		SNV							ENST00000536831	protein_coding	getma.org/?cm=var&var=hg19,10,99125924,C,A&fts=all		hmmpanther:PTHR21576,hmmpanther:PTHR21576:SF2		R/L		A	medium	3570/4399		getma.org/?cm=msa&ty=f&p=RRP12_HUMAN&rb=1070&re=1269&var=R1153L	deleterious(0)				YES	RRP12,missense_variant,p.Arg1153Leu,ENST00000370992,NM_015179.3;RRP12,missense_variant,p.Arg1092Leu,ENST00000414986,NM_001145114.1;RRP12,missense_variant,p.Arg1053Leu,ENST00000315563,NM_001284337.1;RRP12,missense_variant,p.Arg871Leu,ENST00000536831,;RRP12,non_coding_transcript_exon_variant,,ENST00000479481,;RRP12,non_coding_transcript_exon_variant,,ENST00000491313,;RRP12,non_coding_transcript_exon_variant,,ENST00000487612,;RRP12,upstream_gene_variant,,ENST00000465394,;							MODERATE	3458/3894	R1153L	RRP12_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000360031		CCDS7457.1			1	
LPA	0	LGGM	GRCh37	6	161012026	161012026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	4	.	.	ENST00000447678.1:c.3737C>A	p.Pro1246Gln	p.P1246Q	ENST00000447678	NM_005577.2	1246	cCa/cAa	0	1		UPI0000458AC9	0	getma.org/pdb.php?prot=APOA_HUMAN&from=3665&to=3770&var=P3754Q	ENST00000316300		ENSG00000198670	6667		21	0.795		HGNC	p.P1246Q		LPA		SNV			1				ENST00000316300	protein_coding	getma.org/?cm=var&var=hg19,6,161012026,G,T&fts=all		Superfamily_domains:SSF57440,SMART_domains:SM00130,Gene3D:2.40.20.10,hmmpanther:PTHR24261		P/Q		T	neutral	3782/6414		getma.org/?cm=msa&ty=f&p=APOA_HUMAN&rb=3665&re=3770&var=P3754Q	tolerated(0.55)	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN				LPA,missense_variant,p.Pro1246Gln,ENST00000447678,NM_005577.2;LPA,missense_variant,p.Pro1246Gln,ENST00000316300,;							MODERATE	3737/6123	P3754Q	APOA_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000321334		CCDS43523.1			1	
PUM1	0	LGGM	GRCh37	1	31437545	31437545	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	4	.	.	ENST00000426105.2:c.2299G>T	p.Gly767Ter	p.G767*	ENST00000426105		767	Gga/Tga	0	1		UPI000014FCE2	0	NA	ENST00000257075		ENSG00000134644	14957		46	0		HGNC	p.G803X		PUM1		SNV							ENST00000373741	protein_coding	getma.org/?cm=var&var=hg19,1,31437545,C,A&fts=all		hmmpanther:PTHR12537,hmmpanther:PTHR12537:SF1,Low_complexity_(Seg):seg		G/*		A	NA	2393/5360		NA		E9PL65_HUMAN				PUM1,stop_gained,p.Gly768Ter,ENST00000373747,NM_001020658.1;PUM1,stop_gained,p.Gly767Ter,ENST00000257075,NM_014676.2;PUM1,stop_gained,p.Gly525Ter,ENST00000424085,;PUM1,stop_gained,p.Gly803Ter,ENST00000373741,;PUM1,stop_gained,p.Gly767Ter,ENST00000426105,;PUM1,stop_gained,p.Gly741Ter,ENST00000440538,;PUM1,stop_gained,p.Gly623Ter,ENST00000423018,;PUM1,stop_gained,p.Gly708Ter,ENST00000373742,;PUM1,stop_gained,p.Gly479Ter,ENST00000498419,;PUM1,intron_variant,,ENST00000525843,;PUM1,downstream_gene_variant,,ENST00000532678,;SNORD85,downstream_gene_variant,,ENST00000363311,NR_003066.1;PUM1,downstream_gene_variant,,ENST00000490546,;PUM1,stop_gained,p.Gly59Ter,ENST00000527498,;PUM1,downstream_gene_variant,,ENST00000471894,;PUM1,downstream_gene_variant,,ENST00000498627,;							HIGH	2299/3561	G767*	PUM1_HUMAN			Transcript			.	ENSP00000257075		CCDS338.1			1	
ZNF551	0	LGGM	GRCh37	19	58198748	58198748	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000282296.5:c.1105G>T	p.Gly369Trp	p.G369W	ENST00000282296		369	Ggg/Tgg	0	1	1	UPI000059D7C6	0	getma.org/pdb.php?prot=ZN551_HUMAN&from=349&to=374&var=G369W	ENST00000282296		ENSG00000204519	25108		41	3.15		HGNC	p.G369W		ZNF551		SNV							ENST00000356715	protein_coding	getma.org/?cm=var&var=hg19,19,58198748,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387:SF212,hmmpanther:PTHR24387,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	medium	1290/4564		getma.org/?cm=msa&ty=f&p=ZN551_HUMAN&rb=329&re=394&var=G369W	deleterious(0)	M0R2M4_HUMAN			YES	ZNF551,missense_variant,p.Gly369Trp,ENST00000282296,;ZNF551,missense_variant,p.Gly353Trp,ENST00000356715,NM_138347.4;ZNF551,missense_variant,p.Gly341Trp,ENST00000601064,NM_001270938.1;AC003006.7,intron_variant,,ENST00000594684,;ZNF551,intron_variant,,ENST00000596085,;AC003006.7,intron_variant,,ENST00000599221,;ZNF551,downstream_gene_variant,,ENST00000599402,;							MODERATE	1105/2013	G369W	ZN551_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000282296		CCDS12959.2			1	
PTPRZ1	0	LGGM	GRCh37	7	121638024	121638024	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	4	.	.	ENST00000393386.2:c.1204G>T	p.Asp402Tyr	p.D402Y	ENST00000393386	NM_001206838.1	402	Gac/Tac	0	1	1	UPI000020F9BB	0	getma.org/pdb.php?prot=PTPRZ_HUMAN&from=311&to=406&var=D402Y	ENST00000393386		ENSG00000106278	9685		43	1.61		HGNC	p.D402Y		PTPRZ1		SNV							ENST00000449182	protein_coding	getma.org/?cm=var&var=hg19,7,121638024,G,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		D/Y		T	low	1615/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=311&re=406&var=D402Y	deleterious(0)				YES	PTPRZ1,missense_variant,p.Asp402Tyr,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Asp402Tyr,ENST00000449182,NM_001206839.1;							MODERATE	1204/6948	D402Y	PTPRZ_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000377047		CCDS34740.1			1	
KIAA1598	0	LGGM	GRCh37	10	118687370	118687370	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000355371.4:c.1045G>T	p.Glu349Ter	p.E349*	ENST00000355371	NM_001258299.1	349	Gag/Tag	0	1	1	UPI0000404A8F	0	NA	ENST00000355371		ENSG00000187164	29319		39	0		HGNC	p.E349X		KIAA1598		SNV							ENST00000260777	protein_coding	getma.org/?cm=var&var=hg19,10,118687370,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23213:SF179,hmmpanther:PTHR23213		E/*		A	NA	1543/3941		NA					YES	KIAA1598,stop_gained,p.Glu349Ter,ENST00000355371,NM_001258299.1,NM_001127211.2,NM_001258298.1;KIAA1598,stop_gained,p.Glu349Ter,ENST00000260777,NM_018330.6;KIAA1598,stop_gained,p.Glu349Ter,ENST00000392903,;KIAA1598,stop_gained,p.Glu289Ter,ENST00000392901,NM_001258300.1;KIAA1598,non_coding_transcript_exon_variant,,ENST00000497044,;							HIGH	1045/1896	E349*	SHOT1_HUMAN			Transcript			.	ENSP00000347532		CCDS44482.1			1	
WBP1	0	LGGM	GRCh37	2	74687576	74687576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	4	.	.	ENST00000233615.2:c.578G>T	p.Gly193Val	p.G193V	ENST00000233615	NM_012477.3	193	gGg/gTg	0	1	1	UPI0000138EBA	0	NA	ENST00000233615		ENSG00000239779	12737		26	1.87		HGNC	p.G190V		WBP1		SNV							ENST00000409737	protein_coding	getma.org/?cm=var&var=hg19,2,74687576,G,T&fts=all		hmmpanther:PTHR16209,hmmpanther:PTHR16209:SF5		G/V		T	low	852/1294		getma.org/?cm=msa&ty=f&p=WBP1_HUMAN&rb=143&re=269&var=G193V	deleterious(0.04)				YES	WBP1,missense_variant,p.Gly227Val,ENST00000393972,;WBP1,missense_variant,p.Gly193Val,ENST00000233615,NM_012477.3;WBP1,missense_variant,p.Gly190Val,ENST00000409737,;MOGS,downstream_gene_variant,,ENST00000233616,NM_006302.2;MOGS,downstream_gene_variant,,ENST00000409065,;MOGS,downstream_gene_variant,,ENST00000452063,NM_001146158.1;MOGS,downstream_gene_variant,,ENST00000448666,;INO80B,downstream_gene_variant,,ENST00000233331,NM_031288.3;WBP1,downstream_gene_variant,,ENST00000428943,;MOGS,downstream_gene_variant,,ENST00000535045,;INO80B,downstream_gene_variant,,ENST00000409917,;INO80B,downstream_gene_variant,,ENST00000409493,;INO80B,downstream_gene_variant,,ENST00000431187,;MOGS,downstream_gene_variant,,ENST00000414701,;WBP1,non_coding_transcript_exon_variant,,ENST00000494741,;WBP1,non_coding_transcript_exon_variant,,ENST00000470536,;WBP1,downstream_gene_variant,,ENST00000466835,;INO80B,downstream_gene_variant,,ENST00000469849,;INO80B,downstream_gene_variant,,ENST00000494986,;WBP1,downstream_gene_variant,,ENST00000464774,;WBP1,downstream_gene_variant,,ENST00000474185,;MOGS,downstream_gene_variant,,ENST00000462443,;MOGS,downstream_gene_variant,,ENST00000489655,;INO80B,3_prime_UTR_variant,,ENST00000452361,;INO80B,3_prime_UTR_variant,,ENST00000441673,;WBP1,non_coding_transcript_exon_variant,,ENST00000484744,;MOGS,downstream_gene_variant,,ENST00000462189,;WBP1,downstream_gene_variant,,ENST00000490120,;WBP1,downstream_gene_variant,,ENST00000473467,;INO80B,downstream_gene_variant,,ENST00000471577,;WBP1,downstream_gene_variant,,ENST00000466303,;MOGS,downstream_gene_variant,,ENST00000486036,;INO80B,downstream_gene_variant,,ENST00000473618,;INO80B,downstream_gene_variant,,ENST00000455562,;WBP1,downstream_gene_variant,,ENST00000492047,;							MODERATE	578/810	G193V	WBP1_HUMAN			Transcript		benign(0.227)	.	ENSP00000233615		CCDS1943.1			1	
ZNF793	0	LGGM	GRCh37	19	38028222	38028222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	4	.	.	ENST00000445217.1:c.662C>A	p.Pro221Gln	p.P221Q	ENST00000445217		221	cCa/cAa	0	1	1	UPI0001536771	0	getma.org/pdb.php?prot=ZN793_HUMAN&from=49&to=240&var=P221Q	ENST00000445217		ENSG00000188227	33115		38	0.6		HGNC	p.P221Q		ZNF793		SNV							ENST00000542455	protein_coding	getma.org/?cm=var&var=hg19,19,38028222,C,A&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF42		P/Q		A	neutral	697/6712		getma.org/?cm=msa&ty=f&p=ZN793_HUMAN&rb=49&re=240&var=P221Q	tolerated(0.08)	K7ERJ7_HUMAN			YES	ZNF793,missense_variant,p.Pro221Gln,ENST00000445217,;ZNF793,missense_variant,p.Pro221Gln,ENST00000542455,NM_001013659.2;ZNF793,missense_variant,p.Pro221Gln,ENST00000587143,;ZNF793,3_prime_UTR_variant,,ENST00000588578,;ZNF793,intron_variant,,ENST00000589319,;ZNF793,downstream_gene_variant,,ENST00000587986,;ZNF793,downstream_gene_variant,,ENST00000586138,;ZNF793,downstream_gene_variant,,ENST00000587490,;ZNF793,intron_variant,,ENST00000586187,;							MODERATE	662/1221	P221Q	ZN793_HUMAN			Transcript		benign(0.216)	.	ENSP00000396402		CCDS46062.1			1	
KIF7	0	LGGM	GRCh37	15	90172258	90172258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	27	4	.	.	ENST00000394412.3:c.3613C>A	p.Gln1205Lys	p.Q1205K	ENST00000394412	NM_198525.2	1205	Cag/Aag	0	1	1	UPI00015F81C7	0	NA	ENST00000394412		ENSG00000166813	30497		31	1.61		HGNC	p.Q1205K		KIF7		SNV			1				ENST00000394412	protein_coding	getma.org/?cm=var&var=hg19,15,90172258,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF342		Q/K		T	low	3690/4551		getma.org/?cm=msa&ty=f&p=KIF7_HUMAN&rb=1028&re=1227&var=Q1205K	tolerated(0.05)	B7ZKY4_HUMAN			YES	KIF7,missense_variant,p.Gln1205Lys,ENST00000394412,NM_198525.2;TICRR,downstream_gene_variant,,ENST00000268138,;TICRR,downstream_gene_variant,,ENST00000560985,NM_152259.3;KIF7,upstream_gene_variant,,ENST00000558928,;TICRR,intron_variant,,ENST00000561095,;							MODERATE	3613/4032	Q1205K	KIF7_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000377934		CCDS32325.2			1	
ARRDC4	0	LGGM	GRCh37	15	98512511	98512511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	4	.	.	ENST00000268042.6:c.784G>T	p.Gly262Trp	p.G262W	ENST00000268042	NM_183376.2	262	Ggg/Tgg	0	1	1	UPI00001C1F90	0	NA	ENST00000268042		ENSG00000140450	28087		32	2.225		HGNC	p.G262W	rs776062557	ARRDC4	6.06E-05	SNV							ENST00000268042	protein_coding	getma.org/?cm=var&var=hg19,15,98512511,G,T&fts=all		Superfamily_domains:SSF81296,SMART_domains:SM01017,Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF16		G/W		T	medium	948/4072		getma.org/?cm=msa&ty=f&p=ARRD4_HUMAN&rb=191&re=318&var=G262W	deleterious(0)				YES	ARRDC4,missense_variant,p.Gly262Trp,ENST00000268042,NM_183376.2;ARRDC4,missense_variant,p.Gly175Trp,ENST00000538249,;							MODERATE	784/1257	G262W	ARRD4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000268042	8.24E-06	CCDS10377.1			1	
MLN	0	LGGM	GRCh37	6	33768833	33768833	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	46	4	.	.	ENST00000430124.2:c.108G>T	p.Gln36His	p.Q36H	ENST00000430124	NM_001040109.1	36	caG/caT	0	1	1	UPI000012F3E4	0	NA	ENST00000430124		ENSG00000096395	7141		50	2.295		HGNC	p.Q36H		MLN		SNV							ENST00000266003	protein_coding	getma.org/?cm=var&var=hg19,6,33768833,C,A&fts=all		Pfam_domain:PF04644,hmmpanther:PTHR14156,hmmpanther:PTHR14156:SF0		Q/H		A	medium	174/566		getma.org/?cm=msa&ty=f&p=MOTI_HUMAN&rb=7&re=74&var=Q36H	deleterious(0.02)				YES	MLN,missense_variant,p.Gln36His,ENST00000430124,NM_001040109.1,NM_002418.2,NM_001184698.1;MLN,missense_variant,p.Gln36His,ENST00000266003,;MLN,missense_variant,p.Gln36His,ENST00000507738,;							MODERATE	108/348	Q36H	MOTI_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000388825		CCDS4786.1			1	
GPR156	0	LGGM	GRCh37	3	119911863	119911863	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	34	4	.	.	ENST00000464295.1:c.397C>A	p.Leu133Ile	p.L133I	ENST00000464295		133	Ctt/Att	0	1		UPI000004731C	0	NA	ENST00000315843		ENSG00000175697	20844		38	2.035		HGNC	p.L133I		GPR156		SNV							ENST00000461057	protein_coding	getma.org/?cm=var&var=hg19,3,119911863,G,T&fts=all		Pfam_domain:PF00003,Prints_domain:PR01176,PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF31,Transmembrane_helices:TMhelix		L/I		T	medium	594/4193		getma.org/?cm=msa&ty=f&p=GP156_HUMAN&rb=59&re=314&var=L133I	deleterious(0)					GPR156,missense_variant,p.Leu133Ile,ENST00000464295,;GPR156,missense_variant,p.Leu133Ile,ENST00000315843,NM_153002.2,NM_001168271.1;GPR156,missense_variant,p.Leu133Ile,ENST00000461057,;GPR156,intron_variant,,ENST00000495912,;							MODERATE	397/2445	L133I	GP156_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000324553		CCDS2997.1			1	
ZBED4	0	LGGM	GRCh37	22	50278881	50278881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	4	.	.	ENST00000216268.5:c.1571C>A	p.Pro524Gln	p.P524Q	ENST00000216268	NM_014838.2	524	cCg/cAg	0	1	1	UPI000013C6DB	0	NA	ENST00000216268		ENSG00000100426	20721		43	1.04		HGNC	p.P524Q		ZBED4		SNV							ENST00000216268	protein_coding	getma.org/?cm=var&var=hg19,22,50278881,C,A&fts=all		hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF6		P/Q		A	low	2048/6893		getma.org/?cm=msa&ty=f&p=ZBED4_HUMAN&rb=507&re=560&var=P524Q	deleterious(0.01)				YES	ZBED4,missense_variant,p.Pro524Gln,ENST00000216268,NM_014838.2;							MODERATE	1571/3516	P524Q	ZBED4_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000216268		CCDS33677.1			1	
URB2	0	LGGM	GRCh37	1	229772123	229772123	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	41	4	.	.	ENST00000258243.2:c.1763C>A	p.Pro588Gln	p.P588Q	ENST00000258243	NM_014777.2	588	cCg/cAg	0	1	1	UPI000013CFBD	0	NA	ENST00000258243		ENSG00000135763	28967		45	-1.04		HGNC	p.P588Q		URB2		SNV							ENST00000258243	protein_coding	getma.org/?cm=var&var=hg19,1,229772123,C,A&fts=all		hmmpanther:PTHR15682		P/Q		A	neutral	1899/5613		getma.org/?cm=msa&ty=f&p=URB2_HUMAN&rb=568&re=767&var=P588Q	tolerated(0.62)	Q5VYD0_HUMAN			YES	URB2,missense_variant,p.Pro588Gln,ENST00000258243,NM_014777.2;							MODERATE	1763/4575	P588Q	URB2_HUMAN			Transcript		benign(0)	.	ENSP00000258243		CCDS31052.1			1	
WSCD1	0	LGGM	GRCh37	17	6023975	6023975	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	4	.	.	ENST00000574946.1:c.1722C>A	p.Pro574=	p.P574=	ENST00000574946		574	ccC/ccA	0	1		UPI0000197208	0		ENST00000317744		ENSG00000179314	29060		9			HGNC	p.P458P		WSCD1		SNV							ENST00000573634	protein_coding			hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297		P		A		2049/5819				I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN				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,;							LOW	1722/1728		WSCD1_HUMAN			Transcript			.	ENSP00000323087		CCDS32538.1			1	
PTPRT	0	LGGM	GRCh37	20	40757406	40757406	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000373198.4:c.2892C>A	p.Ala964=	p.A964=	ENST00000373198	NM_133170.3	964	gcC/gcA	0	1	1	UPI0000246C03	0		ENST00000373187		ENSG00000196090	9682		41			HGNC	p.A967A		PTPRT		SNV							ENST00000373198	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799,Prints_domain:PR00700		A		T		2835/12453							YES	PTPRT,synonymous_variant,p.=,ENST00000373198,NM_133170.3;PTPRT,synonymous_variant,p.=,ENST00000373201,;PTPRT,synonymous_variant,p.=,ENST00000373193,NM_007050.5;PTPRT,synonymous_variant,p.=,ENST00000373190,;PTPRT,synonymous_variant,p.=,ENST00000373184,;PTPRT,synonymous_variant,p.=,ENST00000356100,;PTPRT,synonymous_variant,p.=,ENST00000373187,;							LOW	2835/4326		PTPRT_HUMAN			Transcript			.	ENSP00000362283		CCDS42874.1			1	
CES5A	0	LGGM	GRCh37	16	55897353	55897353	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000521992.1:c.804C>A	p.Pro268=	p.P268=	ENST00000521992	NM_001190158.1	268	ccC/ccA	0	1		UPI000035CC44	0		ENST00000290567		ENSG00000159398	26459		40			HGNC	p.P239P		CES5A		SNV							ENST00000319165	protein_coding			hmmpanther:PTHR11559:SF43,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474		P		T		839/2084				I3NI11_HUMAN,F5H0J7_HUMAN				CES5A,synonymous_variant,p.=,ENST00000521992,NM_001190158.1;CES5A,synonymous_variant,p.=,ENST00000518005,;CES5A,synonymous_variant,p.=,ENST00000290567,NM_001143685.1;CES5A,synonymous_variant,p.=,ENST00000319165,NM_145024.2;CES5A,synonymous_variant,p.=,ENST00000520435,;CES5A,non_coding_transcript_exon_variant,,ENST00000541580,;CES5A,3_prime_UTR_variant,,ENST00000521228,;CES5A,3_prime_UTR_variant,,ENST00000544479,;							LOW	717/1728		EST5A_HUMAN			Transcript			.	ENSP00000290567		CCDS45490.1			1	
PTPRE	0	LGGM	GRCh37	10	129864393	129864393	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000254667.3:c.778C>A	p.Arg260=	p.R260=	ENST00000254667	NM_006504.4	260	Cgg/Agg	0	1	1	UPI0000132991	0		ENST00000254667		ENSG00000132334	9669		49			HGNC	p.R260R		PTPRE		SNV							ENST00000254667	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF49,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,SMART_domains:SM00194,Superfamily_domains:SSF52799		R		A		1057/5331				Q96P81_HUMAN,Q69YS2_HUMAN,Q5VWH6_HUMAN,Q5VWH5_HUMAN			YES	PTPRE,synonymous_variant,p.=,ENST00000254667,NM_006504.4;PTPRE,synonymous_variant,p.=,ENST00000306042,NM_130435.3;PTPRE,synonymous_variant,p.=,ENST00000419012,;PTPRE,3_prime_UTR_variant,,ENST00000430713,;PTPRE,synonymous_variant,p.=,ENST00000479896,;PTPRE,3_prime_UTR_variant,,ENST00000495530,;PTPRE,non_coding_transcript_exon_variant,,ENST00000492479,;PTPRE,upstream_gene_variant,,ENST00000463727,;							LOW	778/2103		PTPRE_HUMAN			Transcript			.	ENSP00000254667		CCDS7657.1			1	
NRG2	0	LGGM	GRCh37	5	139235323	139235323	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000361474.1:c.1230G>T	p.Thr410=	p.T410=	ENST00000361474	NM_004883.2	410	acG/acT	0	1	1	UPI0000130507	0		ENST00000361474		ENSG00000158458	7998		39			HGNC	p.T207T	COSM374513	NRG2		SNV						1	ENST00000340391	protein_coding			Pfam_domain:PF02158,hmmpanther:PTHR11100:SF20,hmmpanther:PTHR11100,Transmembrane_helices:TMhelix		T		A		1455/3020							YES	NRG2,synonymous_variant,p.=,ENST00000541337,NM_001184935.1;NRG2,synonymous_variant,p.=,ENST00000545385,;NRG2,synonymous_variant,p.=,ENST00000361474,NM_004883.2;NRG2,synonymous_variant,p.=,ENST00000289422,NM_013982.2;NRG2,synonymous_variant,p.=,ENST00000358522,NM_013983.2;NRG2,synonymous_variant,p.=,ENST00000289409,NM_013981.3;NRG2,synonymous_variant,p.=,ENST00000340391,;NRG2,3_prime_UTR_variant,,ENST00000394770,;NRG2,downstream_gene_variant,,ENST00000378238,;CTB-35F21.4,non_coding_transcript_exon_variant,,ENST00000504413,;					1		LOW	1230/2553		NRG2_HUMAN			Transcript			.	ENSP00000354910		CCDS4217.1			1	
SRBD1	0	LGGM	GRCh37	2	45829107	45829107	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000263736.4:c.196C>A	p.Arg66=	p.R66=	ENST00000263736	NM_018079.4	66	Cgg/Agg	0	1	1	UPI000004CC06	0		ENST00000263736		ENSG00000068784	25521		49			HGNC	p.R66R		SRBD1		SNV							ENST00000263736	protein_coding			hmmpanther:PTHR10724,hmmpanther:PTHR10724:SF1		R		T		259/3681				B7Z6X7_HUMAN			YES	SRBD1,synonymous_variant,p.=,ENST00000263736,NM_018079.4;SRBD1,non_coding_transcript_exon_variant,,ENST00000461805,;							LOW	196/2988		SRBD1_HUMAN			Transcript			.	ENSP00000263736		CCDS1823.1			1	
AGBL5	0	LGGM	GRCh37	2	27277974	27277974	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000360131.4:c.761G>T	p.Gly254Val	p.G254V	ENST00000360131	NM_021831.5	254	gGg/gTg	0	1	1	UPI000006FE54	0	getma.org/pdb.php?prot=CBPC5_HUMAN&from=191&to=550&var=G254V	ENST00000360131		ENSG00000084693	26147		35	3.735		HGNC	p.G254V		AGBL5		SNV							ENST00000360131	protein_coding	getma.org/?cm=var&var=hg19,2,27277974,G,T&fts=all		hmmpanther:PTHR12756,Gene3D:3.40.630.10,Pfam_domain:PF00246,Superfamily_domains:SSF53187		G/V		T	high	920/3177		getma.org/?cm=msa&ty=f&p=CBPC5_HUMAN&rb=191&re=550&var=G254V	deleterious(0)	C9JTY1_HUMAN,C9JQG9_HUMAN,C9JHM6_HUMAN,C9JCE1_HUMAN			YES	AGBL5,missense_variant,p.Gly254Val,ENST00000360131,NM_021831.5;AGBL5,missense_variant,p.Gly254Val,ENST00000323064,NM_001035507.2;AGBL5,downstream_gene_variant,,ENST00000453161,;AGBL5,downstream_gene_variant,,ENST00000451003,;AGBL5,downstream_gene_variant,,ENST00000421915,;AGBL5,downstream_gene_variant,,ENST00000437006,;AGBL5,upstream_gene_variant,,ENST00000441931,;RP11-503P10.1,upstream_gene_variant,,ENST00000607407,;AGBL5-AS1,upstream_gene_variant,,ENST00000444217,;AGBL5,missense_variant,p.Gly254Val,ENST00000487078,;AGBL5,non_coding_transcript_exon_variant,,ENST00000477136,;AGBL5,non_coding_transcript_exon_variant,,ENST00000489683,;							MODERATE	761/2661	G254V	CBPC5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353249		CCDS1732.3			1	
OR4N2	0	LGGM	GRCh37	14	20296082	20296082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000315947.1:c.475C>A	p.Gln159Lys	p.Q159K	ENST00000315947	NM_001004723.1	159	Cag/Aag	0	1	1	UPI000004A5DF	0	NA	ENST00000315947		ENSG00000176294	14742		36	2.545		HGNC	p.Q159K		OR4N2		SNV							ENST00000568211	protein_coding	getma.org/?cm=var&var=hg19,14,20296082,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Q/K		A	medium	475/924		getma.org/?cm=msa&ty=f&p=OR4N2_HUMAN&rb=139&re=280&var=Q159K	deleterious(0.03)	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN			YES	OR4N2,missense_variant,p.Gln159Lys,ENST00000568211,;OR4N2,missense_variant,p.Gln159Lys,ENST00000315947,NM_001004723.1;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;							MODERATE	475/924	Q159K	OR4N2_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000319601		CCDS32022.1			1	
ZNF233	0	LGGM	GRCh37	19	44778658	44778658	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000391958.2:c.1845G>T	p.Thr615=	p.T615=	ENST00000391958	NM_181756.2	615	acG/acT	0	1	1	UPI000049DEBE	0		ENST00000391958		ENSG00000159915	30946		49			HGNC	p.T615T		ZNF233		SNV							ENST00000391958	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF42,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		T		T		1972/2784				K7EN46_HUMAN			YES	ZNF233,synonymous_variant,p.=,ENST00000391958,NM_181756.2;ZNF233,synonymous_variant,p.=,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,;							LOW	1845/2013		ZN233_HUMAN			Transcript			.	ENSP00000375820		CCDS33047.1			1	
INTS2	0	LGGM	GRCh37	17	59945352	59945352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	86	4	.	.	ENST00000444766.3:c.3287G>T	p.Arg1096Leu	p.R1096L	ENST00000444766	NM_020748.2	1096	cGg/cTg	0	1	1	UPI0000E5A03A	0	NA	ENST00000444766		ENSG00000108506	29241		90	2.22		HGNC	p.R1096L		INTS2		SNV							ENST00000444766	protein_coding	getma.org/?cm=var&var=hg19,17,59945352,C,A&fts=all		Pfam_domain:PF14750		R/L		A	medium	3363/5878		getma.org/?cm=msa&ty=f&p=INT2_HUMAN&rb=6&re=1202&var=R1096L	deleterious(0)	J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,missense_variant,p.Arg1096Leu,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Arg1088Leu,ENST00000251334,;BRIP1,upstream_gene_variant,,ENST00000259008,NM_032043.2;BRIP1,upstream_gene_variant,,ENST00000577913,;INTS2,downstream_gene_variant,,ENST00000583822,;							MODERATE	3287/3615	R1096L	INT2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000414237		CCDS45750.1			1	
PALM2-AKAP2	0	LGGM	GRCh37	9	112918765	112918765	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000374530.3:c.3162G>T	p.Met1054Ile	p.M1054I	ENST00000374530	NM_007203.4	1054	atG/atT	0	1	1	UPI0000125755	0	NA	ENST00000374530		ENSG00000157654	33529		44	1.7		HGNC	p.M912I		PALM2-AKAP2		SNV							ENST00000374525	protein_coding	getma.org/?cm=var&var=hg19,9,112918765,G,T&fts=all		hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10,Pfam_domain:PF15304		M/I		T	low	3342/7507		getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=783&re=859&var=M823I	deleterious(0.05)				YES	PALM2-AKAP2,missense_variant,p.Met1054Ile,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Met912Ile,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Met1054Ile,ENST00000302798,;AKAP2,missense_variant,p.Met912Ile,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Met1054Ile,ENST00000555236,;AKAP2,missense_variant,p.Met1054Ile,ENST00000510514,;AKAP2,missense_variant,p.Met823Ile,ENST00000259318,NM_001136562.2;AKAP2,non_coding_transcript_exon_variant,,ENST00000485762,;AKAP2,intron_variant,,ENST00000482335,;AKAP2,3_prime_UTR_variant,,ENST00000495980,;							MODERATE	3162/3312	M823I				Transcript		benign(0.311)	.	ENSP00000363654		CCDS35100.1			1	
FAM118A	0	LGGM	GRCh37	22	45719262	45719262	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000216214.3:c.254G>T	p.Arg85Leu	p.R85L	ENST00000216214	NM_001104595.1	85	cGg/cTg	0	1	1	UPI000022B897	0	NA	ENST00000216214		ENSG00000100376	1313		17	0.55		HGNC	p.R85L		FAM118A		SNV							ENST00000216214	protein_coding	getma.org/?cm=var&var=hg19,22,45719262,G,T&fts=all				R/L		T	neutral	1088/3458		getma.org/?cm=msa&ty=f&p=F118A_HUMAN&rb=1&re=141&var=R85L	tolerated(0.12)	B4DY02_HUMAN,B0QY28_HUMAN			YES	FAM118A,missense_variant,p.Arg85Leu,ENST00000216214,NM_001104595.1;FAM118A,missense_variant,p.Arg85Leu,ENST00000441876,NM_017911.2;FAM118A,missense_variant,p.Arg85Leu,ENST00000405673,;FAM118A,missense_variant,p.Arg85Leu,ENST00000427777,;FAM118A,downstream_gene_variant,,ENST00000452238,;FAM118A,downstream_gene_variant,,ENST00000424557,;FAM118A,non_coding_transcript_exon_variant,,ENST00000477714,;							MODERATE	254/1074	R85L	F118A_HUMAN			Transcript		benign(0.019)	.	ENSP00000216214		CCDS14065.1			1	
MGLL	0	LGGM	GRCh37	3	127441407	127441407	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	4	.	.	ENST00000265052.5:c.265G>T	p.Gly89Cys	p.G89C	ENST00000265052	NM_001256585.1	89	Ggc/Tgc	0	1		UPI000004ECB4	0	getma.org/pdb.php?prot=MGLL_HUMAN&from=44&to=282&var=G79C	ENST00000398104		ENSG00000074416	17038		26	4.265		HGNC	p.G89C		MGLL		SNV							ENST00000453507	protein_coding	getma.org/?cm=var&var=hg19,3,127441407,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF12697,Prints_domain:PR00111,hmmpanther:PTHR11614,hmmpanther:PTHR11614:SF87,Superfamily_domains:SSF53474		G/C		A	high	380/4187		getma.org/?cm=msa&ty=f&p=MGLL_HUMAN&rb=44&re=282&var=G79C	deleterious(0)	C9JAM4_HUMAN,C9J8Q3_HUMAN				MGLL,missense_variant,p.Gly79Cys,ENST00000434178,;MGLL,missense_variant,p.Gly89Cys,ENST00000265052,NM_001256585.1,NM_007283.6;MGLL,missense_variant,p.Gly79Cys,ENST00000398104,NM_001003794.2;MGLL,missense_variant,p.Gly53Cys,ENST00000398101,;MGLL,missense_variant,p.Gly89Cys,ENST00000453507,;MGLL,missense_variant,p.Gly3Cys,ENST00000484451,;MGLL,missense_variant,p.Gly16Cys,ENST00000493611,;MGLL,missense_variant,p.Gly3Cys,ENST00000487473,;MGLL,upstream_gene_variant,,ENST00000496306,;MGLL,splice_region_variant,,ENST00000479967,;MGLL,splice_region_variant,,ENST00000465597,;MGLL,splice_region_variant,,ENST00000476654,;							MODERATE	235/912	G79C	MGLL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381176		CCDS43148.1			1	
CKMT1A	0	LGGM	GRCh37	15	43990845	43990845	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000413453.2:c.1018C>A	p.Arg340Ser	p.R340S	ENST00000413453		340	Cgc/Agc	0	1	1	UPI000012DCCE	0		ENST00000413453		ENSG00000223572	31736		39			HGNC	p.R340S		CKMT1A		SNV							ENST00000413453	protein_coding			Superfamily_domains:SSF55931,Pfam_domain:PF00217,Gene3D:3.30.590.10,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_profiles:PS51510		R/S		A		1542/1911			deleterious(0)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN			YES	CKMT1A,missense_variant,p.Arg340Ser,ENST00000413453,;CKMT1A,missense_variant,p.Arg340Ser,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,;							MODERATE	1018/1254		KCRU_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000406577		CCDS32217.1			1	
CCDC30	0	LGGM	GRCh37	1	43119593	43119593	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000428554.2:c.2246C>A	p.Pro749His	p.P749H	ENST00000428554		749	cCt/cAt	0	1		UPI0000458A0B	0	NA	ENST00000340612		ENSG00000186409	26103		49	0.69		HGNC	p.P749H		CCDC30		SNV							ENST00000342022	protein_coding	getma.org/?cm=var&var=hg19,1,43119593,C,A&fts=all				P/H		A	neutral	2246/2664		getma.org/?cm=msa&ty=f&p=CCD30_HUMAN&rb=571&re=782&var=P749H	deleterious(0.01)	D6RFH8_HUMAN				CCDC30,missense_variant,p.Pro749His,ENST00000428554,;CCDC30,missense_variant,p.Pro749His,ENST00000342022,NM_001080850.2;CCDC30,missense_variant,p.Pro749His,ENST00000340612,;CCDC30,missense_variant,p.Pro538His,ENST00000507855,;CCDC30,missense_variant,p.Pro538His,ENST00000390640,;PPIH,upstream_gene_variant,,ENST00000455203,;PPIH,upstream_gene_variant,,ENST00000304979,NM_006347.3;PPIH,upstream_gene_variant,,ENST00000440068,;PPIH,upstream_gene_variant,,ENST00000372550,;PPIH,upstream_gene_variant,,ENST00000372549,;CCDC30,missense_variant,p.Pro447His,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;							MODERATE	2246/2352	P749H	CCD30_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000340378		CCDS30690.1			1	
MEI1	0	LGGM	GRCh37	22	42110014	42110014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	4	.	.	ENST00000401548.3:c.358C>A	p.Gln120Lys	p.Q120K	ENST00000401548	NM_152513.3	120	Cag/Aag	0	1	1	UPI00006E232C	0	NA	ENST00000401548		ENSG00000167077	28613		30	1.905		HGNC	p.Q120K		MEI1		SNV							ENST00000401548	protein_coding	getma.org/?cm=var&var=hg19,22,42110014,C,A&fts=all		hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10,Superfamily_domains:SSF48371		Q/K		A	medium	398/4020		getma.org/?cm=msa&ty=f&p=MEI1_HUMAN&rb=20&re=1271&var=Q120K	deleterious(0.01)				YES	MEI1,missense_variant,p.Gln120Lys,ENST00000401548,NM_152513.3;MEI1,5_prime_UTR_variant,,ENST00000400107,;MEI1,5_prime_UTR_variant,,ENST00000300398,;MEI1,5_prime_UTR_variant,,ENST00000540833,;HMGN2P10,upstream_gene_variant,,ENST00000448085,;							MODERATE	358/3825	Q120K	MEI1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000384115		CCDS46718.1			1	
TMEM57	0	LGGM	GRCh37	1	25783154	25783154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	4	.	.	ENST00000374343.4:c.484C>A	p.Pro162Thr	p.P162T	ENST00000374343	NM_018202.4	162	Cct/Act	0	1	1	UPI000004A074	0	NA	ENST00000374343		ENSG00000204178	25572		22	2.66		HGNC	p.P162T		TMEM57		SNV							ENST00000374343	protein_coding	getma.org/?cm=var&var=hg19,1,25783154,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13289:SF4,hmmpanther:PTHR13289,Pfam_domain:PF09726		P/T		A	medium	663/3917		getma.org/?cm=msa&ty=f&p=MACOI_HUMAN&rb=2&re=662&var=P162T	deleterious(0)	Q9H5V1_HUMAN			YES	TMEM57,missense_variant,p.Pro162Thr,ENST00000374343,NM_018202.4;TMEM57,intron_variant,,ENST00000399766,NM_001282564.1;TMEM57,intron_variant,,ENST00000399763,;TMEM57,intron_variant,,ENST00000470035,;							MODERATE	484/1995	P162T	MACOI_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000363463		CCDS30638.1			1	
RCL1	0	LGGM	GRCh37	9	4844614	4844614	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	4	.	.	ENST00000381750.4:c.800G>T	p.Gly267Val	p.G267V	ENST00000381750	NM_005772.3	267	gGa/gTa	0	1	1	UPI000013CA7B	0	getma.org/pdb.php?prot=RCL1_HUMAN&from=183&to=290&var=G267V	ENST00000381750		ENSG00000120158	17687		20	2.765		HGNC	p.G109V		RCL1		SNV							ENST00000442869	protein_coding	getma.org/?cm=var&var=hg19,9,4844614,G,T&fts=all		Pfam_domain:PF01137,Pfam_domain:PF05189,PIRSF_domain:PIRSF005378,hmmpanther:PTHR11096,hmmpanther:PTHR11096:SF1,TIGRFAM_domain:TIGR03400		G/V		T	medium	1023/2134		getma.org/?cm=msa&ty=f&p=RCL1_HUMAN&rb=183&re=290&var=G267V	deleterious(0.01)	Q5VZU3_HUMAN			YES	RCL1,missense_variant,p.Gly267Val,ENST00000381750,NM_005772.3;RCL1,missense_variant,p.Gly109Val,ENST00000442869,;RCL1,missense_variant,p.Gly81Val,ENST00000448872,;RCL1,missense_variant,p.Gly81Val,ENST00000381730,;RCL1,missense_variant,p.Gly81Val,ENST00000381728,;RCL1,missense_variant,p.Gly81Val,ENST00000441844,;RCL1,downstream_gene_variant,,ENST00000473230,;							MODERATE	800/1122	G267V	RCL1_HUMAN			Transcript		benign(0.378)	.	ENSP00000371169		CCDS6456.1			1	
RBM8A	0	LGGM	GRCh37	1	145508524	145508524	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000330165.8:c.255C>A	p.Thr85=	p.T85=	ENST00000330165	NM_005105.4	85	acC/acA	0	1	1	UPI0000004160	0		ENST00000330165		ENSG00000131795	9905		40			HGNC	p.T84T		RBM8A		SNV			1				ENST00000369307	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23139,SMART_domains:SM00360,Superfamily_domains:SSF54928		T		A		324/4919							YES	RBM8A,synonymous_variant,p.=,ENST00000330165,NM_005105.4;RBM8A,synonymous_variant,p.=,ENST00000369307,;RP11-315I20.1,upstream_gene_variant,,ENST00000598354,;RP11-315I20.1,upstream_gene_variant,,ENST00000447686,;RP11-315I20.1,upstream_gene_variant,,ENST00000601726,;RP11-315I20.1,upstream_gene_variant,,ENST00000598103,;RP11-315I20.1,upstream_gene_variant,,ENST00000599626,;RP11-315I20.1,upstream_gene_variant,,ENST00000599469,;RP11-315I20.1,upstream_gene_variant,,ENST00000597144,;RP11-315I20.1,upstream_gene_variant,,ENST00000595518,;RP11-315I20.1,upstream_gene_variant,,ENST00000595494,;RP11-315I20.1,upstream_gene_variant,,ENST00000600340,;RP11-315I20.1,upstream_gene_variant,,ENST00000412239,;RP11-315I20.1,upstream_gene_variant,,ENST00000599147,;RP11-315I20.1,upstream_gene_variant,,ENST00000437797,;RP11-315I20.1,upstream_gene_variant,,ENST00000596355,;RP11-315I20.1,upstream_gene_variant,,ENST00000448561,;RP11-315I20.1,upstream_gene_variant,,ENST00000421764,;GNRHR2,downstream_gene_variant,,ENST00000312753,;GNRHR2,downstream_gene_variant,,ENST00000361928,;RBM8A,non_coding_transcript_exon_variant,,ENST00000498663,;RBM8A,non_coding_transcript_exon_variant,,ENST00000484825,;GNRHR2,downstream_gene_variant,,ENST00000581100,;							LOW	255/525		RBM8A_HUMAN			Transcript			.	ENSP00000333001		CCDS916.1			1	
SLC35E1	0	LGGM	GRCh37	19	16677343	16677343	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	4	.	.	ENST00000595753.1:c.756G>T	p.Leu252Phe	p.L252F	ENST00000595753	NM_024881.4	252	ttG/ttT	0	1	1	UPI000004D338	0	NA	ENST00000595753		ENSG00000127526	20803		21	1.56		HGNC	p.L252F		SLC35E1		SNV							ENST00000595753	protein_coding	getma.org/?cm=var&var=hg19,19,16677343,C,A&fts=all		Pfam_domain:PF03151,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF31,Transmembrane_helices:TMhelix		L/F		A	low	774/5099		getma.org/?cm=msa&ty=f&p=S35E1_HUMAN&rb=190&re=334&var=L252F	tolerated(0.19)				YES	SLC35E1,missense_variant,p.Leu252Phe,ENST00000595753,NM_024881.4;SLC35E1,missense_variant,p.Leu186Phe,ENST00000436553,;SLC35E1,missense_variant,p.Leu96Phe,ENST00000431408,;CTD-3222D19.10,downstream_gene_variant,,ENST00000597851,;SLC35E1,splice_region_variant,,ENST00000470077,;SLC35E1,upstream_gene_variant,,ENST00000600356,;SLC35E1,missense_variant,p.Leu97Phe,ENST00000409648,;CTD-3222D19.2,splice_region_variant,,ENST00000409035,;SLC35E1,non_coding_transcript_exon_variant,,ENST00000488894,;							MODERATE	756/1233	L252F	S35E1_HUMAN			Transcript		benign(0.098)	.	ENSP00000470652		CCDS12346.2			1	
CKMT1B	0	LGGM	GRCh37	15	43890463	43890463	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	4	.	.	ENST00000300283.6:c.949C>A	p.Pro317Thr	p.P317T	ENST00000300283	NM_020990.3	317	Cca/Aca	0	1	1	UPI000012DCCE	0	getma.org/pdb.php?prot=KCRU_HUMAN&from=153&to=400&var=P317T	ENST00000300283		ENSG00000237289	1995		46	4.545		HGNC	p.P317T		CKMT1B		SNV							ENST00000300283	protein_coding	getma.org/?cm=var&var=hg19,15,43890463,C,A&fts=all		PROSITE_profiles:PS51510,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_patterns:PS00112,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931		P/T		A	high	1341/1779		getma.org/?cm=msa&ty=f&p=KCRU_HUMAN&rb=153&re=400&var=P317T	deleterious(0)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN			YES	CKMT1B,missense_variant,p.Pro317Thr,ENST00000300283,NM_020990.3;CKMT1B,missense_variant,p.Pro317Thr,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,;							MODERATE	949/1254	P317T	KCRU_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000300283		CCDS10097.1			1	
ZDHHC8	0	LGGM	GRCh37	22	20128509	20128509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	7	4	.	.	ENST00000405930.3:c.868C>A	p.Leu290Met	p.L290M	ENST00000405930	NM_001185024.1	290	Ctg/Atg	0	1		UPI00001A9461	0	NA	ENST00000334554		ENSG00000099904	18474		11	0.895		HGNC	p.L198M		ZDHHC8		SNV							ENST00000320602	protein_coding	getma.org/?cm=var&var=hg19,22,20128509,C,A&fts=all		hmmpanther:PTHR12349,hmmpanther:PTHR12349:SF1		L/M		A	low	1009/5046		getma.org/?cm=msa&ty=f&p=ZDHC8_HUMAN&rb=225&re=424&var=L290M	deleterious(0.02)					ZDHHC8,missense_variant,p.Leu290Met,ENST00000334554,NM_013373.3;ZDHHC8,missense_variant,p.Leu290Met,ENST00000405930,NM_001185024.1;ZDHHC8,missense_variant,p.Leu198Met,ENST00000320602,;ZDHHC8,downstream_gene_variant,,ENST00000436518,;ZDHHC8,non_coding_transcript_exon_variant,,ENST00000468112,;ZDHHC8,non_coding_transcript_exon_variant,,ENST00000472497,;ZDHHC8,non_coding_transcript_exon_variant,,ENST00000469212,;							MODERATE	868/2298	L290M	ZDHC8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000334490		CCDS13776.1			1	
FAM13C	0	LGGM	GRCh37	10	61012702	61012702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	4	.	.	ENST00000373868.2:c.1389G>T	p.Leu463Phe	p.L463F	ENST00000373868	NM_198215.3	463	ttG/ttT	0	1	1	UPI00001AEA18	0	NA	ENST00000373868		ENSG00000148541	19371		21	1.935		HGNC	p.L484F		FAM13C		SNV							ENST00000442566	protein_coding	getma.org/?cm=var&var=hg19,10,61012702,C,A&fts=all		hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904		L/F		A	medium	1477/3327		getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=L463F	tolerated(0.16)	D6RIX4_HUMAN			YES	FAM13C,missense_variant,p.Leu379Phe,ENST00000373867,NM_001166698.1;FAM13C,missense_variant,p.Leu483Phe,ENST00000277705,;FAM13C,missense_variant,p.Leu484Phe,ENST00000442566,;FAM13C,missense_variant,p.Leu463Phe,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.Leu365Phe,ENST00000419214,NM_001001971.2;FAM13C,missense_variant,p.Leu380Phe,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.Leu463Phe,ENST00000435852,;FAM13C,downstream_gene_variant,,ENST00000422313,;FAM13C,non_coding_transcript_exon_variant,,ENST00000489341,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;							MODERATE	1389/1758	L463F	FA13C_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000362975		CCDS7255.1			1	
ZNF510	0	LGGM	GRCh37	9	99521281	99521281	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000375231.1:c.1831C>A	p.Arg611=	p.R611=	ENST00000375231		611	Cgg/Agg	0	1		UPI0000139E9E	0		ENST00000223428		ENSG00000081386	29161		49			HGNC	p.R611R		ZNF510		SNV							ENST00000223428	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24392,hmmpanther:PTHR24392:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		T		2020/5154				Q6NUI8_HUMAN				ZNF510,synonymous_variant,p.=,ENST00000375231,;ZNF510,synonymous_variant,p.=,ENST00000223428,NM_014930.1;ZNF510,downstream_gene_variant,,ENST00000374641,;ZNF510,downstream_gene_variant,,ENST00000472201,;							LOW	1831/2052		ZN510_HUMAN			Transcript			.	ENSP00000223428		CCDS35074.1			1	
KIF2B	0	LGGM	GRCh37	17	51900611	51900611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	4	.	.	ENST00000268919.4:c.217C>A	p.Leu73Met	p.L73M	ENST00000268919	NM_032559.4	73	Ctg/Atg	0	1	1	UPI000013D7E6	0	NA	ENST00000268919		ENSG00000141200	29443		43	1.445		HGNC	p.L73M		KIF2B		SNV							ENST00000268919	protein_coding	getma.org/?cm=var&var=hg19,17,51900611,C,A&fts=all				L/M		A	low	373/2335		getma.org/?cm=msa&ty=f&p=KIF2B_HUMAN&rb=1&re=200&var=L73M	tolerated(0.07)				YES	KIF2B,missense_variant,p.Leu73Met,ENST00000268919,NM_032559.4;							MODERATE	217/2022	L73M	KIF2B_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000268919		CCDS32685.1			1	
ACACB	0	LGGM	GRCh37	12	109614052	109614052	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	4	.	.	ENST00000338432.7:c.1421C>A	p.Pro474Gln	p.P474Q	ENST00000338432		474	cCg/cAg	0	1	1	UPI0000DBEEFB	0	getma.org/pdb.php?prot=ACACB_HUMAN&from=417&to=616&var=P474Q	ENST00000338432		ENSG00000076555	85		82	1.45		HGNC	p.P474Q		ACACB		SNV							ENST00000377848	protein_coding	getma.org/?cm=var&var=hg19,12,109614052,C,A&fts=all		Gene3D:3.30.1490.20,Pfam_domain:PF02786,PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF56059		P/Q		A	low	1540/9360		getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=417&re=616&var=P474Q	tolerated(0.07)	F5H5C3_HUMAN,E9PEW7_HUMAN			YES	ACACB,missense_variant,p.Pro474Gln,ENST00000338432,;ACACB,missense_variant,p.Pro474Gln,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Pro474Gln,ENST00000377854,;ACACB,downstream_gene_variant,,ENST00000544726,;ACACB,non_coding_transcript_exon_variant,,ENST00000543080,;							MODERATE	1421/7377	P474Q	ACACB_HUMAN			Transcript		possibly_damaging(0.774)	.	ENSP00000341044		CCDS31898.1			1	
AKR1B10	0	LGGM	GRCh37	7	134221855	134221855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	38	4	.	.	ENST00000359579.4:c.605C>A	p.Ser202Tyr	p.S202Y	ENST00000359579	NM_020299.4	202	tCc/tAc	0	1	1	UPI00000362E9	0	getma.org/pdb.php?prot=AK1BA_HUMAN&from=15&to=294&var=S202Y	ENST00000359579		ENSG00000198074	382		42	2.455		HGNC	p.S202Y		AKR1B10		SNV							ENST00000359579	protein_coding	getma.org/?cm=var&var=hg19,7,134221855,C,A&fts=all		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF156,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430,Prints_domain:PR00069		S/Y		A	medium	925/1590		getma.org/?cm=msa&ty=f&p=AK1BA_HUMAN&rb=15&re=294&var=S202Y	deleterious(0.01)				YES	AKR1B10,missense_variant,p.Ser202Tyr,ENST00000359579,NM_020299.4;AKR1B10,downstream_gene_variant,,ENST00000475559,;AKR1B10,upstream_gene_variant,,ENST00000498818,;AKR1B10,upstream_gene_variant,,ENST00000496435,;							MODERATE	605/951	S202Y	AK1BA_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000352584		CCDS5832.1			1	
ZMYND11	0	LGGM	GRCh37	10	255872	255872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	80	4	.	.	ENST00000397962.3:c.160C>A	p.Arg54Ser	p.R54S	ENST00000397962		54	Cgt/Agt	0	1		UPI0000458A5F	0	NA	ENST00000381591		ENSG00000015171	16966		84	1.12		HGNC	p.R54S		ZMYND11		SNV							ENST00000381591	protein_coding	getma.org/?cm=var&var=hg19,10,255872,C,A&fts=all		hmmpanther:PTHR24102		R/S		A	low	413/4229		getma.org/?cm=msa&ty=f&p=ZMY11_HUMAN&rb=1&re=121&var=R14S	deleterious(0.01)					ZMYND11,missense_variant,p.Arg14Ser,ENST00000309776,NM_001202466.1,NM_006624.5;ZMYND11,missense_variant,p.Arg54Ser,ENST00000397962,;ZMYND11,missense_variant,p.Arg54Ser,ENST00000381591,;ZMYND11,missense_variant,p.Arg54Ser,ENST00000402736,;ZMYND11,missense_variant,p.Arg14Ser,ENST00000381607,NM_001202464.1;ZMYND11,missense_variant,p.Arg37Ser,ENST00000381584,;ZMYND11,missense_variant,p.Arg14Ser,ENST00000381604,;ZMYND11,missense_variant,p.Arg14Ser,ENST00000381602,NM_212479.3;ZMYND11,missense_variant,p.Arg54Ser,ENST00000509513,;ZMYND11,missense_variant,p.Arg54Ser,ENST00000558098,NM_001202467.1,NM_001202468.1;ZMYND11,missense_variant,p.Arg54Ser,ENST00000397959,NM_001202465.1;ZMYND11,missense_variant,p.Arg54Ser,ENST00000602682,;ZMYND11,missense_variant,p.Arg54Ser,ENST00000403354,;ZMYND11,missense_variant,p.Arg14Ser,ENST00000545619,;ZMYND11,missense_variant,p.Arg54Ser,ENST00000439456,;ZMYND11,missense_variant,p.Arg54Ser,ENST00000397955,;ZMYND11,upstream_gene_variant,,ENST00000535374,;							MODERATE	160/1809	R14S	ZMY11_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000371003		CCDS7052.2			1	
RFX7	0	LGGM	GRCh37	15	56386996	56386996	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	41	4	.	.	ENST00000423270.1:c.2930G>T	p.Arg977Leu	p.R977L	ENST00000423270	NM_022841.5	977	cGg/cTg	0	1		UPI0000DB165F	0	NA	ENST00000559447		ENSG00000181827	25777		45	0.805		HGNC	p.R880L		RFX7		SNV							ENST00000559847	protein_coding	getma.org/?cm=var&var=hg19,15,56386996,C,A&fts=all		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF2		R/L		A	low	2911/7169		getma.org/?cm=msa&ty=f&p=RFX7_HUMAN&rb=149&re=1361&var=R880L	deleterious(0)	H0YMH6_HUMAN,H0YLP2_HUMAN				RFX7,missense_variant,p.Arg977Leu,ENST00000423270,NM_022841.5;RFX7,missense_variant,p.Arg880Leu,ENST00000559447,;RFX7,missense_variant,p.Arg880Leu,ENST00000422057,;RFX7,missense_variant,p.Arg977Leu,ENST00000317318,;RFX7,missense_variant,p.Arg880Leu,ENST00000559847,;							MODERATE	2639/4092	R880L				Transcript		probably_damaging(0.985)	.	ENSP00000453281					1	
CHD9	0	LGGM	GRCh37	16	53191219	53191219	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	48	4	.	.	ENST00000566029.1:c.1218C>A	p.Pro406=	p.P406=	ENST00000566029		406	ccC/ccA	0	1		UPI0000E02AC8	0		ENST00000398510		ENSG00000177200	25701		52			HGNC	p.P406P		CHD9		SNV							ENST00000565832	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48		P		A		1305/11337				H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,synonymous_variant,p.=,ENST00000566029,;CHD9,synonymous_variant,p.=,ENST00000564845,;CHD9,synonymous_variant,p.=,ENST00000447540,NM_025134.4;CHD9,synonymous_variant,p.=,ENST00000398510,;CHD9,synonymous_variant,p.=,ENST00000565832,;CHD9,synonymous_variant,p.=,ENST00000562785,;CHD9,downstream_gene_variant,,ENST00000563410,;CHD9,non_coding_transcript_exon_variant,,ENST00000564255,;							LOW	1218/8694		CHD9_HUMAN			Transcript			.	ENSP00000381522					1	
DOCK9	0	LGGM	GRCh37	13	99534174	99534174	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	4	.	.	ENST00000376460.1:c.2647C>A	p.Gln883Lys	p.Q883K	ENST00000376460	NM_015296.2	883	Cag/Aag	0	1	1	UPI000046FD7F	0	NA	ENST00000376460		ENSG00000088387	14132		46	0.51		HGNC	p.Q883K		DOCK9		SNV							ENST00000376460	protein_coding	getma.org/?cm=var&var=hg19,13,99534174,G,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77		Q/K		T	neutral	2728/7549		getma.org/?cm=msa&ty=f&p=DOCK9_HUMAN&rb=829&re=1028&var=Q884K	tolerated(0.39)				YES	DOCK9,missense_variant,p.Gln883Lys,ENST00000376460,NM_015296.2,NM_001130048.1;DOCK9,missense_variant,p.Gln884Lys,ENST00000339416,;DOCK9,missense_variant,p.Gln895Lys,ENST00000448493,;DOCK9,missense_variant,p.Gln883Lys,ENST00000442173,NM_001130049.1,NM_001130050.1;							MODERATE	2647/6207	Q884K	DOCK9_HUMAN			Transcript		benign(0.209)	.	ENSP00000365643		CCDS45062.1			1	
PCID2	0	LGGM	GRCh37	13	113854821	113854821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	4	.	.	ENST00000246505.5:c.46G>T	p.Ala16Ser	p.A16S	ENST00000246505	NM_001258212.1	16	Gcc/Tcc	0	1		UPI000007187B	0	NA	ENST00000337344		ENSG00000126226	25653		22	1.335		HGNC	p.A16S		PCID2		SNV							ENST00000246505	protein_coding	getma.org/?cm=var&var=hg19,13,113854821,C,A&fts=all		hmmpanther:PTHR12732		A/S		A	low	123/1898		getma.org/?cm=msa&ty=f&p=PCID2_HUMAN&rb=1&re=200&var=A16S	tolerated(0.29)					PCID2,missense_variant,p.Ala14Ser,ENST00000375457,NM_001258213.1;PCID2,missense_variant,p.Ala16Ser,ENST00000337344,NM_001127202.2;PCID2,missense_variant,p.Ala16Ser,ENST00000246505,NM_001258212.1;PCID2,missense_variant,p.Ala16Ser,ENST00000375479,NM_018386.3,NM_001127203.2;PCID2,missense_variant,p.Ala14Ser,ENST00000375459,;PCID2,missense_variant,p.Ala16Ser,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,;							MODERATE	46/1200	A16S	PCID2_HUMAN			Transcript		benign(0.003)	.	ENSP00000337405		CCDS9532.2			1	
ZNF114	0	LGGM	GRCh37	19	48789449	48789449	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	4	.	.	ENST00000595607.1:c.568G>T	p.Gly190Trp	p.G190W	ENST00000595607		190	Ggg/Tgg	0	1		UPI000007282E	0	NA	ENST00000315849		ENSG00000178150	12894		32	0		HGNC	p.G190W		ZNF114		SNV							ENST00000315849	protein_coding	getma.org/?cm=var&var=hg19,19,48789449,G,T&fts=all		hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF6		G/W		T	neutral	792/2206		getma.org/?cm=msa&ty=f&p=ZN114_HUMAN&rb=97&re=296&var=G190W	deleterious(0.02)	Q8N4J1_HUMAN				ZNF114,missense_variant,p.Gly190Trp,ENST00000595607,;ZNF114,missense_variant,p.Gly190Trp,ENST00000315849,NM_153608.1;ZNF114,missense_variant,p.Gly156Trp,ENST00000597695,;ZNF114,missense_variant,p.Gly190Trp,ENST00000600687,;ZNF114,downstream_gene_variant,,ENST00000595408,;ZNF114,downstream_gene_variant,,ENST00000594024,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;							MODERATE	568/1254	G190W	ZN114_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000318898		CCDS12713.1			1	
ESPL1	0	LGGM	GRCh37	12	53666623	53666623	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000257934.4:c.1488C>A	p.Pro496=	p.P496=	ENST00000257934	NM_012291.4	496	ccC/ccA	0	1	1	UPI00003668C3	0		ENST00000257934		ENSG00000135476	16856		41			HGNC	p.P496P		ESPL1		SNV							ENST00000257934	protein_coding			hmmpanther:PTHR12792		P		A		1579/6623				H3BRX7_HUMAN			YES	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,;							LOW	1488/6363		ESPL1_HUMAN			Transcript			.	ENSP00000257934		CCDS8852.1			1	
SH3GL3	0	LGGM	GRCh37	15	84245405	84245405	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000427482.2:c.536C>A	p.Pro179Gln	p.P179Q	ENST00000427482	NM_003027.3	179	cCa/cAa	0	1	1	UPI0000135935	0	getma.org/pdb.php?prot=SH3G3_HUMAN&from=6&to=242&var=P179Q	ENST00000427482		ENSG00000140600	10832		39	2.1		HGNC	p.P187Q		SH3GL3		SNV							ENST00000324537	protein_coding	getma.org/?cm=var&var=hg19,15,84245405,C,A&fts=all		PROSITE_profiles:PS51021,hmmpanther:PTHR10661:SF120,hmmpanther:PTHR10661,Pfam_domain:PF03114,Gene3D:1.20.1270.60,SMART_domains:SM00721,Superfamily_domains:SSF103657		P/Q		A	medium	842/1806		getma.org/?cm=msa&ty=f&p=SH3G3_HUMAN&rb=6&re=242&var=P179Q	tolerated(0.15)	Q9UMB8_HUMAN			YES	SH3GL3,missense_variant,p.Pro187Gln,ENST00000324537,;SH3GL3,missense_variant,p.Pro179Gln,ENST00000427482,NM_003027.3;SH3GL3,missense_variant,p.Pro179Gln,ENST00000535412,;SH3GL3,missense_variant,p.Pro187Gln,ENST00000434347,;SH3GL3,3_prime_UTR_variant,,ENST00000563901,;							MODERATE	536/1044	P179Q	SH3G3_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000391372		CCDS10325.2			1	
RRP12	0	LGGM	GRCh37	10	99160238	99160238	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	30	4	.	.	ENST00000370992.4:c.193G>T	p.Gly65Trp	p.G65W	ENST00000370992	NM_015179.3	65	Ggg/Tgg	0	1	1	UPI000013E51C	0	NA	ENST00000370992		ENSG00000052749	29100		34	2.015		HGNC	p.G65W		RRP12		SNV							ENST00000370992	protein_coding	getma.org/?cm=var&var=hg19,10,99160238,C,A&fts=all		hmmpanther:PTHR21576,hmmpanther:PTHR21576:SF2		G/W		A	medium	305/4399		getma.org/?cm=msa&ty=f&p=RRP12_HUMAN&rb=1&re=200&var=G65W	deleterious(0.01)				YES	RRP12,missense_variant,p.Gly65Trp,ENST00000370992,NM_015179.3;RRP12,missense_variant,p.Gly65Trp,ENST00000414986,NM_001145114.1;RRP12,missense_variant,p.Gly65Trp,ENST00000315563,NM_001284337.1;RP11-452K12.7,upstream_gene_variant,,ENST00000422848,;							MODERATE	193/3894	G65W	RRP12_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000360031		CCDS7457.1			1	
SPINT1	0	LGGM	GRCh37	15	41146019	41146019	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000344051.4:c.853G>T	p.Gly285Cys	p.G285C	ENST00000344051		285	Ggc/Tgc	0	1	1	UPI00001AE46F	0	getma.org/pdb.php?prot=SPIT1_HUMAN&from=249&to=301&var=G285C	ENST00000344051		ENSG00000166145	11246		41	4.325		HGNC	p.G285C		SPINT1		SNV							ENST00000344051	protein_coding	getma.org/?cm=var&var=hg19,15,41146019,G,T&fts=all		PROSITE_profiles:PS50279,hmmpanther:PTHR10083:SF174,hmmpanther:PTHR10083,PROSITE_patterns:PS00280,Pfam_domain:PF00014,Gene3D:4.10.410.10,SMART_domains:SM00131,Superfamily_domains:SSF57362,Prints_domain:PR00759		G/C		T	high	1087/3056		getma.org/?cm=msa&ty=f&p=SPIT1_HUMAN&rb=249&re=301&var=G285C	tolerated(0.06)	H3BTQ8_HUMAN			YES	SPINT1,missense_variant,p.Gly285Cys,ENST00000344051,;SPINT1,missense_variant,p.Gly285Cys,ENST00000562057,NM_003710.3,NM_181642.2;SPINT1,missense_variant,p.Gly285Cys,ENST00000431806,NM_001032367.1;SPINT1,missense_variant,p.Gly245Cys,ENST00000568580,;SPINT1,missense_variant,p.Gly285Cys,ENST00000563656,;SPINT1,missense_variant,p.Gly77Cys,ENST00000564375,;SPINT1,missense_variant,p.Gly103Cys,ENST00000566928,;SPINT1,missense_variant,p.Gly3Cys,ENST00000569589,;SPINT1,downstream_gene_variant,,ENST00000568823,;SPINT1,upstream_gene_variant,,ENST00000563135,;SPINT1,upstream_gene_variant,,ENST00000566642,;SPINT1,upstream_gene_variant,,ENST00000568200,;							MODERATE	853/1590	G285C	SPIT1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000342098		CCDS10067.1			1	
OR2K2	0	LGGM	GRCh37	9	114090261	114090261	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	12	4	.	.	ENST00000302681.1:c.453G>T	p.Thr151=	p.T151=	ENST00000302681	NM_205859.1	151	acG/acT	0	1		UPI000004B1D6	0		ENST00000374428		ENSG00000171133	8264	8.68E-05	16			HGNC	p.T151T	rs190540881	OR2K2		SNV							ENST00000302681	protein_coding		T:0	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF198,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		T		A		540/1038	1.51E-05				T:0	T:0.001		OR2K2,synonymous_variant,p.=,ENST00000374428,;OR2K2,synonymous_variant,p.=,ENST00000302681,NM_205859.1;		T:0.0002					LOW	540/1038		OR2K2_HUMAN		T:0	Transcript			.	ENSP00000363550	1.65E-05			T:0	1	
DERL2	0	LGGM	GRCh37	17	5378031	5378031	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	4	.	.	ENST00000158771.4:c.693G>T	p.Trp231Cys	p.W231C	ENST00000158771	NM_016041.3	231	tgG/tgT	0	1	1	UPI0000071535	0	NA	ENST00000158771		ENSG00000072849	17943		20	2.415		HGNC	p.W231C		DERL2		SNV							ENST00000158771	protein_coding	getma.org/?cm=var&var=hg19,17,5378031,C,A&fts=all		hmmpanther:PTHR11009,hmmpanther:PTHR11009:SF5		W/C		A	medium	749/4209		getma.org/?cm=msa&ty=f&p=DERL2_HUMAN&rb=204&re=239&var=W231C	deleterious(0)				YES	DERL2,missense_variant,p.Trp231Cys,ENST00000158771,NM_016041.3;DERL2,missense_variant,p.Trp150Cys,ENST00000575605,;DERL2,3_prime_UTR_variant,,ENST00000570848,;DERL2,3_prime_UTR_variant,,ENST00000572834,;CTC-524C5.5,downstream_gene_variant,,ENST00000571506,;DERL2,non_coding_transcript_exon_variant,,ENST00000573547,;DERL2,downstream_gene_variant,,ENST00000576551,;DERL2,downstream_gene_variant,,ENST00000571476,;							MODERATE	693/720	W231C	DERL2_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000158771		CCDS11073.1			1	
DNAH6	0	LGGM	GRCh37	2	84921602	84921602	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000389394.3:c.7522C>A	p.Gln2508Lys	p.Q2508K	ENST00000389394	NM_001370.1	2508	Cag/Aag	0	1		UPI000163AC9D	0	getma.org/pdb.php?prot=DYH6_HUMAN&from=2409&to=2678&var=Q2508K	ENST00000237449		ENSG00000115423	2951		36	3.93		HGNC	p.Q2459K		DNAH6		SNV							ENST00000398278	protein_coding	getma.org/?cm=var&var=hg19,2,84921602,C,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Gene3D:3.40.50.300,Pfam_domain:PF12780,SMART_domains:SM00382,Superfamily_domains:SSF52540		Q/K		A	high	7530/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=2409&re=2678&var=Q2508K	deleterious(0)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Gln2508Lys,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Gln2508Lys,ENST00000237449,;DNAH6,missense_variant,p.Gln2459Lys,ENST00000398278,;DNAH6,missense_variant,p.Gln480Lys,ENST00000602588,;							MODERATE	7522/12477	Q2508K	DYH6_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000237449		CCDS46348.1			1	
GFPT2	0	LGGM	GRCh37	5	179745824	179745824	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	11	4	.	.	ENST00000253778.8:c.927C>A	p.Thr309=	p.T309=	ENST00000253778	NM_005110.2	309	acC/acA	0	1	1	UPI000014F5AC	0		ENST00000253778		ENSG00000131459	4242		15			HGNC	p.T309T		GFPT2		SNV							ENST00000253778	protein_coding			hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF10,TIGRFAM_domain:TIGR01135		T		T		1097/3093				B3KM63_HUMAN			YES	GFPT2,synonymous_variant,p.=,ENST00000253778,NM_005110.2;GFPT2,synonymous_variant,p.=,ENST00000518906,;GFPT2,non_coding_transcript_exon_variant,,ENST00000520165,;GFPT2,downstream_gene_variant,,ENST00000518185,;GFPT2,non_coding_transcript_exon_variant,,ENST00000510122,;							LOW	927/2049		GFPT2_HUMAN			Transcript			.	ENSP00000253778		CCDS43411.1			1	
TBC1D24	0	LGGM	GRCh37	16	2547038	2547038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	4	.	.	ENST00000293970.5:c.889C>A	p.Arg297Ser	p.R297S	ENST00000293970	NM_001199107.1	297	Cgc/Agc	0	1	1	UPI000041A97A	0	NA	ENST00000293970		ENSG00000162065	29203		29	1.385		HGNC	p.R297S		TBC1D24		SNV			1				ENST00000293970	protein_coding	getma.org/?cm=var&var=hg19,16,2547038,C,A&fts=all		hmmpanther:PTHR23353:SF2,hmmpanther:PTHR23353		R/S		A	low	1022/4340		getma.org/?cm=msa&ty=f&p=TBC24_HUMAN&rb=256&re=367&var=R297S	tolerated(0.06)	H3BV07_HUMAN,H3BNU1_HUMAN			YES	TBC1D24,missense_variant,p.Arg297Ser,ENST00000567020,NM_020705.2;TBC1D24,missense_variant,p.Arg297Ser,ENST00000293970,NM_001199107.1;TBC1D24,missense_variant,p.Arg297Ser,ENST00000434757,;RP11-20I23.1,missense_variant,p.Arg297Ser,ENST00000564543,;TBC1D24,upstream_gene_variant,,ENST00000564879,;TBC1D24,downstream_gene_variant,,ENST00000562105,;TBC1D24,upstream_gene_variant,,ENST00000569874,;							MODERATE	889/1680	R297S	TBC24_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000293970		CCDS55980.1			1	
WNK2	0	LGGM	GRCh37	9	95997119	95997119	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	4	.	.	ENST00000297954.4:c.1105T>A	p.Tyr369Asn	p.Y369N	ENST00000297954	NM_001282394.1	369	Tac/Aac	0	1	1	UPI0000236D76	0	getma.org/pdb.php?prot=WNK2_HUMAN&from=195&to=453&var=Y369N	ENST00000297954		ENSG00000165238	14542		12	1.5		HGNC	p.Y369N		WNK2		SNV							ENST00000448039	protein_coding	getma.org/?cm=var&var=hg19,9,95997119,T,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/N		A	low	1105/7138		getma.org/?cm=msa&ty=f&p=WNK2_HUMAN&rb=195&re=453&var=Y369N					YES	WNK2,missense_variant,p.Tyr365Asn,ENST00000432730,;WNK2,missense_variant,p.Tyr369Asn,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Tyr369Asn,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Tyr355Asn,ENST00000395475,;WNK2,missense_variant,p.Tyr369Asn,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000349097,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000411624,;							MODERATE	1105/6894	Y369N	WNK2_HUMAN			Transcript		unknown(0)	.	ENSP00000297954					1	
GATS	0	LGGM	GRCh37	7	99869521	99869521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	4	.	.	ENST00000436886.2:c.86G>T	p.Arg29Ile	p.R29I	ENST00000436886	NM_178831.6	29	aGa/aTa	0	1			0	NA	ENST00000328453		ENSG00000239521	29954		22	0		Clone_based_vega_gene	p.R29I		GATS		SNV							ENST00000436886	processed_transcript	getma.org/?cm=var&var=hg19,7,99869521,C,A&fts=all						A	neutral	91/1052		getma.org/?cm=msa&ty=f&p=GATS_HUMAN&rb=1&re=81&var=R29I						GATS,missense_variant,p.Arg29Ile,ENST00000436886,NM_178831.6;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,,ENST00000292369,;							MODIFIER		R29I				Transcript			.						1	
SLC4A8	0	LGGM	GRCh37	12	51883504	51883504	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000453097.2:c.2469G>T	p.Leu823=	p.L823=	ENST00000453097	NM_001039960.2	823	ctG/ctT	0	1	1	UPI00005E6FB4	0		ENST00000453097		ENSG00000050438	11034		40			HGNC	p.L823L		SLC4A8		SNV							ENST00000453097	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF37,Pfam_domain:PF00955,TIGRFAM_domain:TIGR00834		L		T		2686/4395							YES	SLC4A8,synonymous_variant,p.=,ENST00000453097,NM_001039960.2,NM_001258401.2;SLC4A8,synonymous_variant,p.=,ENST00000358657,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000604314,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000551071,;SLC4A8,non_coding_transcript_exon_variant,,ENST00000319957,;SLC4A8,upstream_gene_variant,,ENST00000548616,;							LOW	2469/3282		S4A8_HUMAN			Transcript			.	ENSP00000405812		CCDS44890.1			1	
COPS6	0	LGGM	GRCh37	7	99686977	99686977	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	4	.	.	ENST00000303904.3:c.141C>A	p.Val47=	p.V47=	ENST00000303904	NM_006833.4	47	gtC/gtA	0	1	1	UPI000014F97E	0		ENST00000303904		ENSG00000168090	21749		20			HGNC	p.V46V		COPS6		SNV							ENST00000418625	protein_coding			hmmpanther:PTHR10540:SF8,hmmpanther:PTHR10540,Pfam_domain:PF01398,SMART_domains:SM00232		V		A		178/1432				C9JQK5_HUMAN,B2R514_HUMAN			YES	COPS6,synonymous_variant,p.=,ENST00000303904,NM_006833.4;COPS6,synonymous_variant,p.=,ENST00000418625,;COPS6,synonymous_variant,p.=,ENST00000419210,;MCM7,downstream_gene_variant,,ENST00000303887,NM_001278595.1,NM_005916.4;MCM7,downstream_gene_variant,,ENST00000354230,NM_182776.2;MCM7,downstream_gene_variant,,ENST00000343023,;MIR25,downstream_gene_variant,,ENST00000384816,;MIR106B,downstream_gene_variant,,ENST00000385301,;MIR93,downstream_gene_variant,,ENST00000385024,;COPS6,non_coding_transcript_exon_variant,,ENST00000465027,;COPS6,non_coding_transcript_exon_variant,,ENST00000472107,;COPS6,non_coding_transcript_exon_variant,,ENST00000468499,;COPS6,non_coding_transcript_exon_variant,,ENST00000496358,;MCM7,downstream_gene_variant,,ENST00000485286,;MCM7,downstream_gene_variant,,ENST00000489841,;COPS6,upstream_gene_variant,,ENST00000474823,;COPS6,upstream_gene_variant,,ENST00000483891,;COPS6,upstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000491245,;MCM7,downstream_gene_variant,,ENST00000493352,;							LOW	141/984		CSN6_HUMAN			Transcript			.	ENSP00000304102		CCDS5682.1			1	
SAMD7	0	LGGM	GRCh37	3	169644458	169644458	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	33	4	.	.	ENST00000428432.2:c.408C>A	p.Pro136=	p.P136=	ENST00000428432	NM_182610.2	136	ccC/ccA	0	1		UPI00001A9D13	0		ENST00000335556		ENSG00000187033	25394		37			HGNC	p.P136P		SAMD7		SNV							ENST00000428432	protein_coding			hmmpanther:PTHR12247:SF17,hmmpanther:PTHR12247		P		A		774/2376								SAMD7,synonymous_variant,p.=,ENST00000428432,NM_182610.2;SAMD7,synonymous_variant,p.=,ENST00000335556,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;							LOW	408/1341		SAMD7_HUMAN			Transcript			.	ENSP00000334668		CCDS3209.1			1	
FNDC3B	0	LGGM	GRCh37	3	171965351	171965351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	74	4	.	.	ENST00000336824.4:c.293G>T	p.Arg98Leu	p.R98L	ENST00000336824	NM_001135095.1	98	cGg/cTg	0	1	1	UPI00001AE8B2	0	NA	ENST00000336824		ENSG00000075420	24670		78	2.175		HGNC	p.R71L		FNDC3B		SNV							ENST00000443501	protein_coding	getma.org/?cm=var&var=hg19,3,171965351,G,T&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54		R/L		T	medium	392/7904		getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=1&re=200&var=R98L	deleterious(0)				YES	FNDC3B,missense_variant,p.Arg98Leu,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Arg98Leu,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Arg98Leu,ENST00000416957,;FNDC3B,missense_variant,p.Arg71Leu,ENST00000443501,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;							MODERATE	293/3615	R98L	FND3B_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000338523		CCDS3217.1			1	
CCDC57	0	LGGM	GRCh37	17	80153186	80153186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	4	.	.	ENST00000392343.3:c.571C>A	p.Leu191Met	p.L191M	ENST00000392343		191	Ctg/Atg	0	1		UPI000155D557	0	NA	ENST00000389641		ENSG00000176155	27564		32	1.845		HGNC	p.L191M		CCDC57		SNV							ENST00000389641	protein_coding	getma.org/?cm=var&var=hg19,17,80153186,G,T&fts=all		hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF1		L/M		T	low	608/3000		getma.org/?cm=msa&ty=f&p=CCD57_HUMAN&rb=1&re=289&var=L191M	deleterious(0)					CCDC57,missense_variant,p.Leu191Met,ENST00000389641,;CCDC57,missense_variant,p.Leu191Met,ENST00000392347,NM_198082.2;CCDC57,missense_variant,p.Leu191Met,ENST00000392343,;CCDC57,3_prime_UTR_variant,,ENST00000581625,;CCDC57,non_coding_transcript_exon_variant,,ENST00000578910,;CCDC57,upstream_gene_variant,,ENST00000578187,;							MODERATE	571/2751	L191M	CCD57_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000374292					1	
GPR64	0	LGGM	GRCh37	X	19013020	19013020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	4	.	.	ENST00000379869.3:c.2863G>T	p.Gly955Trp	p.G955W	ENST00000379869	NM_001079858.2	955	Ggg/Tgg	0	1	1	UPI000021246C	0	NA	ENST00000379869		ENSG00000173698	4516		47	1.355		HGNC	p.G939W		GPR64		SNV							ENST00000354791	protein_coding	getma.org/?cm=var&var=hg19,X,19013020,C,A&fts=all		hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011		G/W		A	low	3027/4768		getma.org/?cm=msa&ty=f&p=GPR64_HUMAN&rb=876&re=1017&var=G955W	deleterious(0)				YES	GPR64,missense_variant,p.Gly939Trp,ENST00000354791,;GPR64,missense_variant,p.Gly939Trp,ENST00000379878,NM_001184833.1;GPR64,missense_variant,p.Gly931Trp,ENST00000379876,NM_001184836.1,NM_001184835.1;GPR64,missense_variant,p.Gly955Trp,ENST00000379869,NM_001079858.2,NM_005756.3;GPR64,missense_variant,p.Gly933Trp,ENST00000360279,NM_001079860.2;GPR64,missense_variant,p.Gly925Trp,ENST00000357544,NM_001184837.1;GPR64,missense_variant,p.Gly952Trp,ENST00000357991,;GPR64,missense_variant,p.Gly941Trp,ENST00000356606,NM_001079859.2;GPR64,missense_variant,p.Gly836Trp,ENST00000340581,;GPR64,intron_variant,,ENST00000379873,NM_001184834.1;							MODERATE	2863/3054	G955W	GPR64_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000369198		CCDS43923.1			1	
RP11-683L23.1	0	LGGM	GRCh37	18	48258	48258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	46	4	.	.	ENST00000308911.6:c.467G>T	p.Arg156Leu	p.R156L	ENST00000308911		156	cGg/cTg	0	1	1	UPI000049DE76	0		ENST00000308911		ENSG00000173213			50			Clone_based_vega_gene	p.R122L		RP11-683L23.1		SNV							ENST00000573909	protein_coding			Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF55,SMART_domains:SM00864,Superfamily_domains:SSF52490		R/L		A		467/1335			deleterious_low_confidence(0)				YES	RP11-683L23.1,missense_variant,p.Arg122Leu,ENST00000573909,;RP11-683L23.1,missense_variant,p.Arg156Leu,ENST00000308911,;RP11-683L23.1,non_coding_transcript_exon_variant,,ENST00000594555,;RP11-683L23.1,downstream_gene_variant,,ENST00000575325,;RP11-683L23.1,downstream_gene_variant,,ENST00000572530,;RP11-683L23.2,downstream_gene_variant,,ENST00000575066,;							MODERATE	467/1335		TBB8L_HUMAN			Transcript		benign(0.121)	.	ENSP00000309431					1	
RIMS2	0	LGGM	GRCh37	8	104897815	104897815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000406091.3:c.988C>A	p.Gln330Lys	p.Q330K	ENST00000406091	NM_001100117.2	330	Cag/Aag	0	1	1	UPI0001597063	0	NA	ENST00000406091		ENSG00000176406	17283		35	2.34		HGNC	p.Q138K		RIMS2		SNV							ENST00000507740	protein_coding	getma.org/?cm=var&var=hg19,8,104897815,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157		Q/K		A	medium	988/4050		getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=201&re=400&var=Q361K	deleterious_low_confidence(0.03)	E9PFB6_HUMAN			YES	RIMS2,missense_variant,p.Gln138Lys,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Gln108Lys,ENST00000436393,;RIMS2,missense_variant,p.Gln330Lys,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Gln138Lys,ENST00000408894,;RIMS2,missense_variant,p.Gln138Lys,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Gln330Lys,ENST00000504942,;RIMS2,missense_variant,p.Gln138Lys,ENST00000515551,;RIMS2,non_coding_transcript_exon_variant,,ENST00000522174,;							MODERATE	988/4050	Q361K	RIMS2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000384892		CCDS55269.1			1	
PRNP	0	LGGM	GRCh37	20	4680515	4680515	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	4	.	.	ENST00000379440.4:c.649C>A	p.Gln217Lys	p.Q217K	ENST00000379440	NM_001080121.1	217	Cag/Aag	0	1	1	UPI0000033C27	0	getma.org/pdb.php?prot=PRIO_HUMAN&from=134&to=252&var=Q217K	ENST00000379440		ENSG00000171867	9449		28	2.505		HGNC	p.Q217K		PRNP		SNV			1				ENST00000457586	protein_coding	getma.org/?cm=var&var=hg19,20,4680515,C,A&fts=all		Superfamily_domains:SSF54098,SMART_domains:SM00157,Gene3D:1.10.790.10,Pfam_domain:PF00377,PROSITE_patterns:PS00706,hmmpanther:PTHR11522:SF0,hmmpanther:PTHR11522		Q/K		A	medium	936/2657		getma.org/?cm=msa&ty=f&p=PRIO_HUMAN&rb=134&re=252&var=Q217K	deleterious(0)	Q86XR1_HUMAN,Q6SES1_HUMAN,Q53YK7_HUMAN,O75942_HUMAN,A2A2V1_HUMAN			YES	PRNP,missense_variant,p.Gln217Lys,ENST00000379440,NM_001080121.1,NM_001080122.1,NM_001271561.1,NM_183079.2,NM_000311.3,NM_001080123.1;PRNP,missense_variant,p.Gln217Lys,ENST00000430350,;PRNP,missense_variant,p.Gln217Lys,ENST00000457586,;PRNP,missense_variant,p.Gln217Lys,ENST00000424424,;							MODERATE	649/762	Q217K	PRIO_HUMAN			Transcript		benign(0.278)	.	ENSP00000368752		CCDS13080.1			1	
LYPD4	0	LGGM	GRCh37	19	42342249	42342249	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	4	.	.	ENST00000330743.3:c.298G>T	p.Gly100Ter	p.G100*	ENST00000330743	NM_173506.4	100	Gga/Tga	0	1	1	UPI0000366E14	0	NA	ENST00000330743		ENSG00000183103	28659		22	0		HGNC	p.G65X		LYPD4		SNV							ENST00000601246	protein_coding	getma.org/?cm=var&var=hg19,19,42342249,C,A&fts=all		hmmpanther:PTHR16529:SF6,hmmpanther:PTHR16529		G/*		A	NA	1510/2022		NA		A8K8E0_HUMAN			YES	LYPD4,stop_gained,p.Gly100Ter,ENST00000330743,NM_173506.4;LYPD4,stop_gained,p.Gly65Ter,ENST00000601246,;LYPD4,stop_gained,p.Gly65Ter,ENST00000343055,;AC020956.3,upstream_gene_variant,,ENST00000593354,;							HIGH	298/741	G100*	LYPD4_HUMAN			Transcript			.	ENSP00000328737		CCDS12587.1			1	
IVNS1ABP	0	LGGM	GRCh37	1	185276201	185276201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000367498.3:c.602G>T	p.Trp201Leu	p.W201L	ENST00000367498	NM_006469.4	201	tGg/tTg	0	1	1	UPI0000036B84	0	NA	ENST00000367498		ENSG00000116679	16951		36	2.25		HGNC	p.W201L		IVNS1ABP		SNV							ENST00000367498	protein_coding	getma.org/?cm=var&var=hg19,1,185276201,C,A&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF7,SMART_domains:SM00875		W/L		A	medium	1225/4199		getma.org/?cm=msa&ty=f&p=NS1BP_HUMAN&rb=134&re=229&var=W201L	tolerated(0.1)	B3KSM1_HUMAN			YES	IVNS1ABP,missense_variant,p.Trp201Leu,ENST00000367498,NM_006469.4;IVNS1ABP,missense_variant,p.Trp82Leu,ENST00000422754,;IVNS1ABP,5_prime_UTR_variant,,ENST00000392007,;IVNS1ABP,downstream_gene_variant,,ENST00000367497,;IVNS1ABP,non_coding_transcript_exon_variant,,ENST00000459929,;IVNS1ABP,upstream_gene_variant,,ENST00000480769,;							MODERATE	602/1929	W201L	NS1BP_HUMAN			Transcript		possibly_damaging(0.52)	.	ENSP00000356468		CCDS1368.1			1	
U2SURP	0	LGGM	GRCh37	3	142741814	142741814	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	63	4	.	.	ENST00000473835.2:c.1138G>T	p.Gly380Ter	p.G380*	ENST00000473835	NM_001080415.1	380	Gga/Tga	0	1	1	UPI0000160746	0	NA	ENST00000473835		ENSG00000163714	30855		67	0		HGNC	p.G380X		U2SURP		SNV							ENST00000319822	protein_coding	getma.org/?cm=var&var=hg19,3,142741814,G,T&fts=all		hmmpanther:PTHR23140		G/*		T	NA	1228/7276		NA		C9JDJ7_HUMAN,C9JB80_HUMAN,C9J5L1_HUMAN			YES	U2SURP,stop_gained,p.Gly380Ter,ENST00000473835,NM_001080415.1;U2SURP,stop_gained,p.Gly379Ter,ENST00000493598,;U2SURP,5_prime_UTR_variant,,ENST00000397933,;U2SURP,upstream_gene_variant,,ENST00000480029,;U2SURP,stop_gained,p.Gly382Ter,ENST00000463563,;U2SURP,stop_gained,p.Gly380Ter,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,;							HIGH	1138/3090	G380*	SR140_HUMAN			Transcript			.	ENSP00000418563		CCDS46928.1			1	
SMARCAL1	0	LGGM	GRCh37	2	217340102	217340102	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000357276.4:c.2355C>A	p.Thr785=	p.T785=	ENST00000357276	NM_014140.3	785	acC/acA	0	1	1	UPI000000DA30	0		ENST00000357276		ENSG00000138375	11102		36			HGNC	p.T785T		SMARCAL1		SNV			1				ENST00000358207	protein_coding			PROSITE_profiles:PS51194,hmmpanther:PTHR10799:SF571,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540		T		A		2685/3271				C9JP32_HUMAN,C9JHQ1_HUMAN,C9J8F8_HUMAN,C9J6I8_HUMAN			YES	SMARCAL1,synonymous_variant,p.=,ENST00000357276,NM_014140.3;SMARCAL1,synonymous_variant,p.=,ENST00000358207,NM_001127207.1;SMARCAL1,synonymous_variant,p.=,ENST00000392128,;AC098820.3,downstream_gene_variant,,ENST00000453157,;							LOW	2355/2865		SMAL1_HUMAN			Transcript			.	ENSP00000349823		CCDS2403.1			1	
USP11	0	LGGM	GRCh37	X	47106800	47106800	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	4	.	.	ENST00000218348.3:c.2647G>T	p.Gly883Cys	p.G883C	ENST00000218348	NM_004651.3	883	Ggc/Tgc	0	1	1	UPI0000161434	0	getma.org/pdb.php?prot=UBP11_HUMAN&from=306&to=927&var=G883C	ENST00000218348		ENSG00000102226	12609		18	3.32		HGNC	p.G883C		USP11		SNV							ENST00000218348	protein_coding	getma.org/?cm=var&var=hg19,X,47106800,G,T&fts=all		Pfam_domain:PF00443,PROSITE_patterns:PS00973,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF403,Superfamily_domains:SSF54001		G/C		T	medium	2647/3289		getma.org/?cm=msa&ty=f&p=UBP11_HUMAN&rb=306&re=927&var=G883C	deleterious(0.03)	Q6P453_HUMAN,Q5JXD3_HUMAN,G5E9A6_HUMAN,B4DGK3_HUMAN,B3KP28_HUMAN			YES	USP11,missense_variant,p.Gly840Cys,ENST00000377107,;USP11,missense_variant,p.Gly883Cys,ENST00000218348,NM_004651.3;USP11,non_coding_transcript_exon_variant,,ENST00000469080,;USP11,non_coding_transcript_exon_variant,,ENST00000497179,;USP11,non_coding_transcript_exon_variant,,ENST00000467378,;USP11,downstream_gene_variant,,ENST00000488848,;USP11,downstream_gene_variant,,ENST00000480104,;							MODERATE	2647/2892	G883C	UBP11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000218348		CCDS14277.1			1	
MMP2	0	LGGM	GRCh37	16	55519268	55519268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	4	.	.	ENST00000219070.4:c.587C>A	p.Ala196Asp	p.A196D	ENST00000219070	NM_004530.4	196	gCc/gAc	0	1	1	UPI00000422C4	0	getma.org/pdb.php?prot=MMP2_HUMAN&from=118&to=446&var=A196D	ENST00000219070		ENSG00000087245	7166		21	1.47		HGNC	p.A120D		MMP2		SNV			1				ENST00000564864	protein_coding	getma.org/?cm=var&var=hg19,16,55519268,C,A&fts=all		hmmpanther:PTHR10201:SF29,hmmpanther:PTHR10201,Gene3D:3.40.390.10,Pfam_domain:PF00413,SMART_domains:SM00235,Superfamily_domains:SSF55486		A/D		A	low	1096/3741		getma.org/?cm=msa&ty=f&p=MMP2_HUMAN&rb=118&re=446&var=A196D	deleterious(0)	Q2EF79_HUMAN,H3BV48_HUMAN,H3BR66_HUMAN			YES	MMP2,missense_variant,p.Ala196Asp,ENST00000219070,NM_004530.4;MMP2,missense_variant,p.Ala120Asp,ENST00000570308,;MMP2,missense_variant,p.Ala146Asp,ENST00000437642,NM_001127891.1;MMP2,missense_variant,p.Ala120Asp,ENST00000543485,;MMP2,missense_variant,p.Ala120Asp,ENST00000564864,;MMP2,upstream_gene_variant,,ENST00000570283,;MMP2,downstream_gene_variant,,ENST00000568715,;							MODERATE	587/1983	A196D	MMP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000219070		CCDS10752.1			1	
ROBO2	0	LGGM	GRCh37	3	77671516	77671516	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000487694.3:c.3741C>A	p.Pro1247=	p.P1247=	ENST00000487694	NM_001128929.2	1247	ccC/ccA	0	1		UPI00003A9322	0		ENST00000461745		ENSG00000185008	10250		44			HGNC	p.P1231P		ROBO2		SNV			1				ENST00000332191	protein_coding			hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489		P		A		4593/8946								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.=,ENST00000475334,;ROBO2,downstream_gene_variant,,ENST00000490991,;ROBO2,downstream_gene_variant,,ENST00000469233,;ROBO2,3_prime_UTR_variant,,ENST00000473767,;							LOW	3693/4137		ROBO2_HUMAN			Transcript			.	ENSP00000417164		CCDS43109.1			1	
C22orf42	0	LGGM	GRCh37	22	32546313	32546313	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	4	.	.	ENST00000382097.3:c.647C>A	p.Pro216Gln	p.P216Q	ENST00000382097	NM_001010859.1	216	cCg/cAg	0	1	1	UPI00003765B0	0	NA	ENST00000382097		ENSG00000205856	27160		76	0		HGNC	p.P216Q		C22orf42		SNV							ENST00000382097	protein_coding	getma.org/?cm=var&var=hg19,22,32546313,G,T&fts=all		hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF1		P/Q		T	neutral	720/1363		getma.org/?cm=msa&ty=f&p=CV042_HUMAN&rb=1&re=250&var=P216Q	tolerated_low_confidence(0.33)				YES	C22orf42,missense_variant,p.Pro216Gln,ENST00000382097,NM_001010859.1;C22orf42,upstream_gene_variant,,ENST00000490640,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;							MODERATE	647/756	P216Q	CV042_HUMAN			Transcript		benign(0.071)	.	ENSP00000371529		CCDS33639.1			1	
CACNG4	0	LGGM	GRCh37	17	65026777	65026777	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	4	.	.	ENST00000262138.3:c.641G>T	p.Arg214Met	p.R214M	ENST00000262138	NM_014405.3	214	aGg/aTg	0	1	1	UPI0000001649	0	NA	ENST00000262138		ENSG00000075461	1408		32	2.365		HGNC	p.R214M		CACNG4		SNV							ENST00000262138	protein_coding	getma.org/?cm=var&var=hg19,17,65026777,G,T&fts=all		hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF7		R/M		T	medium	643/3380		getma.org/?cm=msa&ty=f&p=CCG4_HUMAN&rb=203&re=327&var=R214M	deleterious(0.01)				YES	CACNG4,missense_variant,p.Arg214Met,ENST00000262138,NM_014405.3;AC005544.1,upstream_gene_variant,,ENST00000375684,;RP11-74H8.1,downstream_gene_variant,,ENST00000579138,;							MODERATE	641/984	R214M	CCG4_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000262138		CCDS11667.1			1	
OR6N2	0	LGGM	GRCh37	1	158747403	158747403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000339258.1:c.23G>T	p.Ser8Ile	p.S8I	ENST00000339258	NM_001005278.1	8	aGc/aTc	0	1	1	UPI0000041C8E	0	NA	ENST00000339258		ENSG00000188340	15035		49	0.265		HGNC	p.S8I		OR6N2		SNV							ENST00000339258	protein_coding	getma.org/?cm=var&var=hg19,1,158747403,C,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF68,Superfamily_domains:SSF81321		S/I		A	neutral	23/954		getma.org/?cm=msa&ty=f&p=OR6N2_HUMAN&rb=1&re=138&var=S8I	tolerated(0.22)				YES	OR6N2,missense_variant,p.Ser8Ile,ENST00000339258,NM_001005278.1;							MODERATE	23/954	S8I	OR6N2_HUMAN			Transcript		benign(0.001)	.	ENSP00000344101		CCDS30906.1			1	
MLKL	0	LGGM	GRCh37	16	74729407	74729407	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	4	.	.	ENST00000308807.7:c.249C>A	p.Ser83=	p.S83=	ENST00000308807	NM_152649.2	83	tcC/tcA	0	1	1	UPI000004073C	0		ENST00000308807		ENSG00000168404	26617		46			HGNC	p.S83S		MLKL		SNV							ENST00000308807	protein_coding			Coiled-coils_(Ncoils):Coil		S		T		713/2523				I3L4Z5_HUMAN,I3L2T9_HUMAN			YES	MLKL,synonymous_variant,p.=,ENST00000308807,NM_152649.2;MLKL,synonymous_variant,p.=,ENST00000306247,NM_001142497.1;MLKL,synonymous_variant,p.=,ENST00000573267,;MLKL,downstream_gene_variant,,ENST00000575686,;MLKL,upstream_gene_variant,,ENST00000571303,;							LOW	249/1416		MLKL_HUMAN			Transcript			.	ENSP00000308351		CCDS32487.1			1	
HYDIN	0	LGGM	GRCh37	16	70913518	70913518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	4	.	.	ENST00000393567.2:c.10357G>T	p.Gly3453Cys	p.G3453C	ENST00000393567	NM_001270974.1	3453	Ggc/Tgc	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		12	1.725		HGNC	p.G3453C		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70913518,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		G/C		A	low	10508/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=G3453C		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Gly3453Cys,ENST00000393567,NM_001270974.1;							MODERATE	10357/15366	G3453C	HYDIN_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000377197		CCDS59269.1			1	
DOPEY1	0	LGGM	GRCh37	6	83848167	83848167	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000349129.2:c.4406C>A	p.Pro1469Gln	p.P1469Q	ENST00000349129	NM_015018.3	1469	cCa/cAa	0	1	1	UPI00001C1574	0	NA	ENST00000349129		ENSG00000083097	21194		39	1.62		HGNC	p.P1450Q		DOPEY1		SNV							ENST00000237163	protein_coding	getma.org/?cm=var&var=hg19,6,83848167,C,A&fts=all		hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		P/Q		A	low	4666/8210		getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=1360&re=2463&var=P1469Q	deleterious(0)				YES	DOPEY1,missense_variant,p.Pro1469Gln,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Pro1460Gln,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Pro1450Gln,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000493541,;							MODERATE	4406/7398	P1469Q	DOP1_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000195654		CCDS4996.1			1	
MPHOSPH10	0	LGGM	GRCh37	2	71360260	71360260	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000244230.2:c.322C>A	p.Pro108Thr	p.P108T	ENST00000244230	NM_005791.2	108	Cca/Aca	0	1	1	UPI000012F41D	0	NA	ENST00000244230		ENSG00000124383	7213		44	1.455		HGNC	p.P108T		MPHOSPH10		SNV							ENST00000244230	protein_coding	getma.org/?cm=var&var=hg19,2,71360260,C,A&fts=all		Pfam_domain:PF04006,PIRSF_domain:PIRSF017300,hmmpanther:PTHR17039		P/T		A	low	674/2484		getma.org/?cm=msa&ty=f&p=MPP10_HUMAN&rb=17&re=657&var=P108T	tolerated(0.14)				YES	MPHOSPH10,missense_variant,p.Pro108Thr,ENST00000244230,NM_005791.2;MPHOSPH10,missense_variant,p.Pro108Thr,ENST00000498451,;MCEE,upstream_gene_variant,,ENST00000494660,;MCEE,upstream_gene_variant,,ENST00000244217,NM_032601.3;MCEE,upstream_gene_variant,,ENST00000486135,;MPHOSPH10,non_coding_transcript_exon_variant,,ENST00000468427,;							MODERATE	322/2046	P108T	MPP10_HUMAN			Transcript		benign(0.243)	.	ENSP00000244230		CCDS1916.1			1	
MLLT10	0	LGGM	GRCh37	10	21962798	21962798	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000307729.7:c.1571G>T	p.Arg524Met	p.R524M	ENST00000307729		524	aGg/aTg	0	1	1	UPI00001F8FF7	0	NA	ENST00000307729		ENSG00000078403	16063		40	1.61		HGNC	p.R524M		MLLT10		SNV			1				ENST00000377059	protein_coding	getma.org/?cm=var&var=hg19,10,21962798,G,T&fts=all		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF86		R/M		T	low	1749/5032		getma.org/?cm=msa&ty=f&p=AF10_HUMAN&rb=199&re=999&var=R524M	deleterious(0)	Q71UR7_HUMAN,B4DVS6_HUMAN			YES	MLLT10,missense_variant,p.Arg524Met,ENST00000377072,NM_004641.3;MLLT10,missense_variant,p.Arg524Met,ENST00000446906,;MLLT10,missense_variant,p.Arg524Met,ENST00000307729,;MLLT10,missense_variant,p.Arg524Met,ENST00000377059,NM_001195626.1;MLLT10,missense_variant,p.Arg167Met,ENST00000438473,;MLLT10,missense_variant,p.Arg98Met,ENST00000420525,;MLLT10,downstream_gene_variant,,ENST00000468309,;							MODERATE	1571/3207	R524M	AF10_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000307411		CCDS55708.1			1	
SIK2	0	LGGM	GRCh37	11	111594642	111594642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	4	4	.	.	ENST00000304987.3:c.2570C>A	p.Pro857His	p.P857H	ENST00000304987	NM_015191.1	857	cCt/cAt	0	1	1	UPI000006F406	0	NA	ENST00000304987		ENSG00000170145	21680		8	0.755		HGNC	p.P857H		SIK2		SNV							ENST00000304987	protein_coding	getma.org/?cm=var&var=hg19,11,111594642,C,A&fts=all		PIRSF_domain:PIRSF037014,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF145		P/H		A	neutral	2743/9678		getma.org/?cm=msa&ty=f&p=SIK2_HUMAN&rb=616&re=924&var=P857H	tolerated_low_confidence(0.06)				YES	SIK2,missense_variant,p.Pro857His,ENST00000304987,NM_015191.1;PPP2R1B,downstream_gene_variant,,ENST00000311129,NM_181699.2;PPP2R1B,downstream_gene_variant,,ENST00000426998,NM_181700.1;SIK2,downstream_gene_variant,,ENST00000533868,;PPP2R1B,downstream_gene_variant,,ENST00000530787,;							MODERATE	2570/2781	P857H	SIK2_HUMAN			Transcript		benign(0.002)	.	ENSP00000305976		CCDS8347.1			1	
FGF5	0	LGGM	GRCh37	4	81207632	81207632	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	44	4	.	.	ENST00000312465.7:c.613C>A	p.Arg205=	p.R205=	ENST00000312465	NM_004464.3	205	Cgg/Agg	0	1	1	UPI0000039721	0		ENST00000312465		ENSG00000138675	3683		48			HGNC	p.R205R		FGF5		SNV			1				ENST00000312465	protein_coding			hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF23,Gene3D:2.80.10.50,Pfam_domain:PF00167,SMART_domains:SM00442,Superfamily_domains:SSF50353		R		A		839/4555				Q8NF90_HUMAN,Q8NBG6_HUMAN			YES	FGF5,synonymous_variant,p.=,ENST00000312465,NM_004464.3;FGF5,3_prime_UTR_variant,,ENST00000456523,NM_033143.2;FGF5,non_coding_transcript_exon_variant,,ENST00000503413,;FGF5,intron_variant,,ENST00000507780,;							LOW	613/807		FGF5_HUMAN			Transcript			.	ENSP00000311697		CCDS34021.1			1	
KLK1	0	LGGM	GRCh37	19	51326981	51326981	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	4	.	.	ENST00000301420.2:c.24C>A	p.Leu8=	p.L8=	ENST00000301420	NM_002257.3	8	ctC/ctA	0	1	1	UPI000004CA0D	0		ENST00000301420		ENSG00000167748	6357		10			HGNC	p.L8L		KLK1		SNV			1				ENST00000301420	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24275:SF14,hmmpanther:PTHR24275		L		T		60/866				Q9UE84_HUMAN,F8WAM8_HUMAN			YES	KLK1,synonymous_variant,p.=,ENST00000301420,NM_002257.3;KLK1,5_prime_UTR_variant,,ENST00000448701,;KLK15,downstream_gene_variant,,ENST00000326856,;KLK15,downstream_gene_variant,,ENST00000301421,NM_001277082.1;KLK15,downstream_gene_variant,,ENST00000416184,;KLK15,downstream_gene_variant,,ENST00000598239,NM_001277081.1,NM_017509.3;KLK15,downstream_gene_variant,,ENST00000596931,;KLK15,downstream_gene_variant,,ENST00000598673,;CTD-2568A17.5,downstream_gene_variant,,ENST00000326989,;KLK1,synonymous_variant,p.=,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK15,downstream_gene_variant,,ENST00000596531,;KLK15,downstream_gene_variant,,ENST00000601680,;KLK1,upstream_gene_variant,,ENST00000596300,;KLK15,downstream_gene_variant,,ENST00000602114,;							LOW	24/789		KLK1_HUMAN			Transcript			.	ENSP00000301420		CCDS12804.1			1	
MAP3K3	0	LGGM	GRCh37	17	61762888	61762888	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	25	4	.	.	ENST00000361357.3:c.741C>A	p.Pro247=	p.P247=	ENST00000361357	NM_203351.1	247	ccC/ccA	0	1		UPI00002011CC	0		ENST00000361733		ENSG00000198909	6855		29			HGNC	p.P247P		MAP3K3		SNV							ENST00000361357	protein_coding			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF38		P		A		968/3529				Q96HN9_HUMAN,Q7Z4E6_HUMAN				MAP3K3,synonymous_variant,p.=,ENST00000361357,NM_203351.1;MAP3K3,synonymous_variant,p.=,ENST00000361733,NM_002401.3;MAP3K3,synonymous_variant,p.=,ENST00000579585,;MAP3K3,synonymous_variant,p.=,ENST00000584573,;MAP3K3,synonymous_variant,p.=,ENST00000577395,;MAP3K3,upstream_gene_variant,,ENST00000577784,;MAP3K3,3_prime_UTR_variant,,ENST00000577597,;MAP3K3,3_prime_UTR_variant,,ENST00000585302,;MAP3K3,upstream_gene_variant,,ENST00000577839,;MAP3K3,upstream_gene_variant,,ENST00000581732,;MAP3K3,upstream_gene_variant,,ENST00000578622,;							LOW	648/1881		M3K3_HUMAN			Transcript			.	ENSP00000354485		CCDS32702.1			1	
ARMCX1	0	LGGM	GRCh37	X	100808942	100808942	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000372829.3:c.1029C>A	p.Thr343=	p.T343=	ENST00000372829	NM_016608.1	343	acC/acA	0	1	1	UPI00000411D9	0		ENST00000372829		ENSG00000126947	18073		44			HGNC	p.T343T		ARMCX1		SNV							ENST00000372829	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,Pfam_domain:PF04826,hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF14		T		A		1400/2141				Q68D26_HUMAN			YES	ARMCX1,synonymous_variant,p.=,ENST00000372829,NM_016608.1;							LOW	1029/1362		ARMX1_HUMAN			Transcript			.	ENSP00000361917		CCDS14487.1			1	
MROH2B	0	LGGM	GRCh37	5	41018498	41018498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000399564.4:c.2708G>T	p.Trp903Leu	p.W903L	ENST00000399564	NM_173489.4	903	tGg/tTg	0	1	1	UPI000020CA04	0	NA	ENST00000399564		ENSG00000171495	26857		41	2.045		HGNC	p.W458L		MROH2B		SNV							ENST00000506092	protein_coding	getma.org/?cm=var&var=hg19,5,41018498,C,A&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		W/L		A	medium	3159/5239		getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=W903L	tolerated(0.06)	F5GZ06_HUMAN			YES	MROH2B,missense_variant,p.Trp903Leu,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Trp458Leu,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;							MODERATE	2708/4758	W903L	MRO2B_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000382476		CCDS47202.1			1	
KANSL3	0	LGGM	GRCh37	2	97276524	97276524	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	4	.	.	ENST00000431828.1:c.1258C>A	p.Arg420=	p.R420=	ENST00000431828		420	Cgg/Agg	0	1	1	UPI0000207C82	0		ENST00000431828		ENSG00000114982	25473		82			HGNC	p.R333R		KANSL3		SNV							ENST00000599854	protein_coding			Superfamily_domains:SSF53474,Pfam_domain:PF12695,Gene3D:3.40.50.1820,hmmpanther:PTHR13136		R		T		1335/5153				F8WEN2_HUMAN,B4E1W4_HUMAN			YES	KANSL3,synonymous_variant,p.=,ENST00000599854,NM_001115016.2;KANSL3,synonymous_variant,p.=,ENST00000431828,;KANSL3,synonymous_variant,p.=,ENST00000440133,;KANSL3,synonymous_variant,p.=,ENST00000441706,;KANSL3,downstream_gene_variant,,ENST00000435669,;KANSL3,downstream_gene_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,downstream_gene_variant,,ENST00000464738,;KANSL3,synonymous_variant,p.=,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,3_prime_UTR_variant,,ENST00000425656,;KANSL3,3_prime_UTR_variant,,ENST00000452268,;KANSL3,non_coding_transcript_exon_variant,,ENST00000488907,;KANSL3,upstream_gene_variant,,ENST00000476534,;KANSL3,downstream_gene_variant,,ENST00000451819,;KANSL3,downstream_gene_variant,,ENST00000418735,;KANSL3,downstream_gene_variant,,ENST00000416138,;							LOW	1258/2637		KANL3_HUMAN			Transcript			.	ENSP00000396749		CCDS46361.1			1	
PCDHGA6	0	LGGM	GRCh37	5	140753758	140753758	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	4	.	.	ENST00000517434.1:c.108C>A	p.Pro36=	p.P36=	ENST00000517434	NM_018919.2	36	ccC/ccA	0	1	1	UPI00000715C8	0		ENST00000517434		ENSG00000253731	8704		26			HGNC	p.P36P		PCDHGA6		SNV							ENST00000517434	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,Superfamily_domains:SSF49313		P		A		108/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA6,synonymous_variant,p.=,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;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;							LOW	108/2799		PCDG6_HUMAN			Transcript			.	ENSP00000429601		CCDS54926.1			1	
FNDC1	0	LGGM	GRCh37	6	159636015	159636015	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000297267.9:c.499C>A	p.Arg167=	p.R167=	ENST00000297267	NM_032532.2	167	Cgg/Agg	0	1	1	UPI0000579B80	0		ENST00000297267		ENSG00000164694	21184		35			HGNC	p.R167R		FNDC1		SNV							ENST00000297267	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		R		A		699/6552							YES	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000340366,;FNDC1,synonymous_variant,p.=,ENST00000329629,;FNDC1,upstream_gene_variant,,ENST00000480856,;							LOW	499/5685		FNDC1_HUMAN			Transcript			.	ENSP00000297267		CCDS47512.1			1	
STK25	0	LGGM	GRCh37	2	242438092	242438092	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000316586.4:c.879G>T	p.Glu293Asp	p.E293D	ENST00000316586	NM_001282308.1	293	gaG/gaT	0	1	1	UPI0000000C8C	0	getma.org/pdb.php?prot=STK25_HUMAN&from=271&to=322&var=E293D	ENST00000316586		ENSG00000115694	11404		17	2.03		HGNC	p.E293D		STK25		SNV							ENST00000403346	protein_coding	getma.org/?cm=var&var=hg19,2,242438092,C,A&fts=all		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF208,Low_complexity_(Seg):seg,Superfamily_domains:SSF56112		E/D		A	medium	1229/4619		getma.org/?cm=msa&ty=f&p=STK25_HUMAN&rb=271&re=322&var=E293D	tolerated(0.08)	E7EM58_HUMAN,C9JJV0_HUMAN,C9JDH9_HUMAN,C9JCC0_HUMAN,C9J232_HUMAN,B7Z9K1_HUMAN			YES	STK25,missense_variant,p.Glu293Asp,ENST00000316586,NM_001282308.1;STK25,missense_variant,p.Glu293Asp,ENST00000401869,NM_001271978.1;STK25,missense_variant,p.Glu293Asp,ENST00000403346,NM_006374.4,NM_001271977.1;STK25,missense_variant,p.Glu199Asp,ENST00000543554,;STK25,missense_variant,p.Glu216Asp,ENST00000405883,NM_001271979.1;STK25,missense_variant,p.Glu216Asp,ENST00000405585,NM_001271980.1;STK25,missense_variant,p.Glu199Asp,ENST00000535007,;STK25,missense_variant,p.Glu175Asp,ENST00000423004,;FARP2,downstream_gene_variant,,ENST00000264042,NM_014808.2;STK25,downstream_gene_variant,,ENST00000440109,;STK25,downstream_gene_variant,,ENST00000442307,;STK25,downstream_gene_variant,,ENST00000450497,;STK25,downstream_gene_variant,,ENST00000413760,;STK25,downstream_gene_variant,,ENST00000424537,;STK25,downstream_gene_variant,,ENST00000439101,;STK25,downstream_gene_variant,,ENST00000436402,;FARP2,downstream_gene_variant,,ENST00000444371,;STK25,downstream_gene_variant,,ENST00000429279,;STK25,downstream_gene_variant,,ENST00000426941,;STK25,downstream_gene_variant,,ENST00000435225,;FARP2,downstream_gene_variant,,ENST00000412332,;STK25,downstream_gene_variant,,ENST00000420551,;STK25,non_coding_transcript_exon_variant,,ENST00000478403,;STK25,non_coding_transcript_exon_variant,,ENST00000461760,;STK25,downstream_gene_variant,,ENST00000452891,;STK25,downstream_gene_variant,,ENST00000483603,;STK25,upstream_gene_variant,,ENST00000470438,;STK25,downstream_gene_variant,,ENST00000436917,;STK25,upstream_gene_variant,,ENST00000472181,;STK25,non_coding_transcript_exon_variant,,ENST00000487962,;STK25,non_coding_transcript_exon_variant,,ENST00000465009,;STK25,non_coding_transcript_exon_variant,,ENST00000495143,;FARP2,downstream_gene_variant,,ENST00000470617,;STK25,downstream_gene_variant,,ENST00000492127,;STK25,upstream_gene_variant,,ENST00000494699,;STK25,downstream_gene_variant,,ENST00000495372,;STK25,downstream_gene_variant,,ENST00000479442,;STK25,downstream_gene_variant,,ENST00000496159,;STK25,upstream_gene_variant,,ENST00000462953,;							MODERATE	879/1281	E293D	STK25_HUMAN			Transcript		benign(0.001)	.	ENSP00000325748		CCDS2549.1			1	
BTD	0	LGGM	GRCh37	3	15685914	15685914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000303498.5:c.551C>A	p.Pro184Gln	p.P184Q	ENST00000303498	NM_000060.2	184	cCa/cAa	0	1	1	UPI000013E8A8	0	getma.org/pdb.php?prot=BTD_HUMAN&from=74&to=271&var=P184Q	ENST00000303498		ENSG00000169814	1122		41	2.535		HGNC	p.P184Q		BTD		SNV			1				ENST00000303498	protein_coding	getma.org/?cm=var&var=hg19,3,15685914,C,A&fts=all		PROSITE_profiles:PS50263,hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,Pfam_domain:PF00795,Gene3D:3.60.110.10,PIRSF_domain:PIRSF011861,Superfamily_domains:SSF56317		P/Q		A	medium	660/2075		getma.org/?cm=msa&ty=f&p=BTD_HUMAN&rb=74&re=271&var=P184Q	deleterious(0.01)	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN			YES	BTD,missense_variant,p.Pro164Gln,ENST00000383778,NM_001281725.1;BTD,missense_variant,p.Pro186Gln,ENST00000437172,NM_001281724.1;BTD,missense_variant,p.Pro184Gln,ENST00000303498,NM_000060.2;BTD,missense_variant,p.Pro186Gln,ENST00000449107,NM_001281723.1;BTD,missense_variant,p.Pro164Gln,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;							MODERATE	551/1632	P184Q	BTD_HUMAN			Transcript		benign(0.128)	.	ENSP00000306477		CCDS2628.1			1	
CWC22	0	LGGM	GRCh37	2	180846665	180846665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	4	.	.	ENST00000410053.3:c.266G>T	p.Arg89Leu	p.R89L	ENST00000410053	NM_020943.2	89	cGg/cTg	0	1	1	UPI00001C1DAE	0	NA	ENST00000410053		ENSG00000163510	29322		30	2.31		HGNC	p.R89L		CWC22		SNV							ENST00000410053	protein_coding	getma.org/?cm=var&var=hg19,2,180846665,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR18034:SF3,hmmpanther:PTHR18034		R/L		A	medium	566/3280		getma.org/?cm=msa&ty=f&p=CWC22_HUMAN&rb=1&re=162&var=R89L	deleterious(0.03)	B7WP74_HUMAN			YES	CWC22,missense_variant,p.Arg89Leu,ENST00000410053,NM_020943.2;CWC22,missense_variant,p.Arg89Leu,ENST00000295749,;CWC22,missense_variant,p.Arg89Leu,ENST00000404136,;							MODERATE	266/2727	R89L	CWC22_HUMAN			Transcript		possibly_damaging(0.519)	.	ENSP00000387006		CCDS46465.1			1	
GPATCH8	0	LGGM	GRCh37	17	42475990	42475990	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	44	4	.	.	ENST00000591680.1:c.3455C>A	p.Pro1152Gln	p.P1152Q	ENST00000591680	NM_001002909.2	1152	cCa/cAa	0	1	1	UPI0000237985	0	NA	ENST00000591680		ENSG00000186566	29066		48	0.255		HGNC	p.P1152Q		GPATCH8		SNV							ENST00000591680	protein_coding	getma.org/?cm=var&var=hg19,17,42475990,G,T&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11		P/Q		T	neutral	3486/4692		getma.org/?cm=msa&ty=f&p=GPTC8_HUMAN&rb=964&re=1163&var=P1152Q	tolerated(0.27)				YES	GPATCH8,missense_variant,p.Pro1074Gln,ENST00000434000,;GPATCH8,missense_variant,p.Pro1152Gln,ENST00000591680,NM_001002909.2;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,downstream_gene_variant,,ENST00000590041,;							MODERATE	3455/4509	P1152Q	GPTC8_HUMAN			Transcript		unknown(0)	.	ENSP00000467556		CCDS32666.1			1	
CCDC144A	0	LGGM	GRCh37	17	16638334	16638334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	4	.	.	ENST00000443444.2:c.2749C>A	p.Arg917Ser	p.R917S	ENST00000443444		917	Cgt/Agt	0	1		UPI0000F095D0	0	NA	ENST00000360524		ENSG00000170160	29072		47	1.24		HGNC	p.R917S		CCDC144A		SNV							ENST00000448331	protein_coding	getma.org/?cm=var&var=hg19,17,16638334,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22245:SF0,hmmpanther:PTHR22245,Pfam_domain:PF14915		R/S		A	low	2825/5830		getma.org/?cm=msa&ty=f&p=C144C_HUMAN&rb=1&re=989&var=R730S	deleterious(0.01)					CCDC144A,missense_variant,p.Arg917Ser,ENST00000443444,;CCDC144A,missense_variant,p.Arg917Ser,ENST00000399273,;CCDC144A,missense_variant,p.Arg917Ser,ENST00000360524,NM_014695.1;CCDC144A,missense_variant,p.Arg637Ser,ENST00000456009,;RP11-219A15.1,missense_variant,p.Arg917Ser,ENST00000448331,;CCDC144A,3_prime_UTR_variant,,ENST00000360495,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000470068,;CCDC144A,non_coding_transcript_exon_variant,,ENST00000328495,;							MODERATE	2749/4284	R730S	C144A_HUMAN			Transcript		benign(0.019)	.	ENSP00000353717		CCDS45621.1			1	
SF1	0	LGGM	GRCh37	11	64544080	64544080	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	38	4	.	.	ENST00000377387.1:c.425G>T	p.Arg142Leu	p.R142L	ENST00000377387	NM_001178030.1	142	cGg/cTg	0	1		UPI000006EB2E	0	NA	ENST00000377390		ENSG00000168066	12950		42	1.935		HGNC	p.R17L		SF1		SNV							ENST00000377390	protein_coding	getma.org/?cm=var&var=hg19,11,64544080,C,A&fts=all		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45		R/L		A	medium	388/3470		getma.org/?cm=msa&ty=f&p=SF01_HUMAN&rb=1&re=147&var=R17L	deleterious(0.02)	Q14821_HUMAN,C9J792_HUMAN,B4DJU4_HUMAN				SF1,missense_variant,p.Arg17Leu,ENST00000377390,NM_004630.3;SF1,missense_variant,p.Arg17Leu,ENST00000334944,NM_201995.2;SF1,missense_variant,p.Arg142Leu,ENST00000377387,NM_001178030.1;SF1,missense_variant,p.Arg17Leu,ENST00000377394,NM_201997.2;SF1,missense_variant,p.Arg17Leu,ENST00000227503,NM_201998.2;SF1,5_prime_UTR_variant,,ENST00000433274,NM_001178031.1;SF1,5_prime_UTR_variant,,ENST00000422298,;SF1,5_prime_UTR_variant,,ENST00000432725,;AP001462.6,upstream_gene_variant,,ENST00000594089,;SF1,missense_variant,p.Arg17Leu,ENST00000448404,;SF1,3_prime_UTR_variant,,ENST00000413951,;SF1,non_coding_transcript_exon_variant,,ENST00000463343,;SF1,non_coding_transcript_exon_variant,,ENST00000482693,;SF1,non_coding_transcript_exon_variant,,ENST00000472725,;							MODERATE	50/1920	R17L	SF01_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000366607		CCDS31599.1			1	
MPRIP	0	LGGM	GRCh37	17	17050659	17050659	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	53	4	.	.	ENST00000395811.5:c.1233C>A	p.Ala411=	p.A411=	ENST00000395811	NM_015134.3	411	gcC/gcA	0	1		UPI0000366BAD	0		ENST00000341712		ENSG00000133030	30321		57			HGNC	p.A217A		MPRIP		SNV							ENST00000584067	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR17271:SF9,hmmpanther:PTHR17271,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		A		A		1233/3846				Q8N236_HUMAN,Q5ZEZ6_HUMAN,J3KSK7_HUMAN				MPRIP,synonymous_variant,p.=,ENST00000395811,NM_015134.3,NM_201274.3;MPRIP,synonymous_variant,p.=,ENST00000341712,;MPRIP,synonymous_variant,p.=,ENST00000444976,;MPRIP,synonymous_variant,p.=,ENST00000584067,;MPRIP,synonymous_variant,p.=,ENST00000395804,;MPRIP,upstream_gene_variant,,ENST00000581955,;							LOW	1233/3078		MPRIP_HUMAN			Transcript			.	ENSP00000342379		CCDS32578.1			1	
PRDM10	0	LGGM	GRCh37	11	129827641	129827641	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	4	.	.	ENST00000358825.5:c.234G>T	p.Gln78His	p.Q78H	ENST00000358825	NM_020228.2	78	caG/caT	0	1	1	UPI00002371B3	0	NA	ENST00000358825		ENSG00000170325	13995		47	0.975		HGNC	p.Q78H		PRDM10		SNV							ENST00000527581	protein_coding	getma.org/?cm=var&var=hg19,11,129827641,C,A&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF415		Q/H		A	low	466/6322		getma.org/?cm=msa&ty=f&p=G3XAE5_HUMAN&rb=1&re=200&var=Q78H	deleterious_low_confidence(0)				YES	PRDM10,missense_variant,p.Gln78His,ENST00000358825,NM_020228.2;PRDM10,missense_variant,p.Gln78His,ENST00000360871,NM_199437.1;PRDM10,missense_variant,p.Gln78His,ENST00000528746,;PRDM10,missense_variant,p.Gln78His,ENST00000527581,;PRDM10,missense_variant,p.Gln78His,ENST00000531431,;							MODERATE	234/3483	Q78H	PRD10_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000351686		CCDS44771.1			1	
GARNL3	0	LGGM	GRCh37	9	130155505	130155505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	26	4	.	.	ENST00000373387.4:c.3014C>A	p.Ser1005Tyr	p.S1005Y	ENST00000373387	NM_032293.4	1005	tCc/tAc	0	1	1	UPI0000EE56F2	0	NA	ENST00000373387		ENSG00000136895	25425		30	0.345		HGNC	p.S983Y		GARNL3		SNV							ENST00000435213	protein_coding	getma.org/?cm=var&var=hg19,9,130155505,C,A&fts=all				S/Y		A	neutral	3366/3800		getma.org/?cm=msa&ty=f&p=GARL3_HUMAN&rb=968&re=1013&var=S1005Y	tolerated_low_confidence(1)	B4DH81_HUMAN			YES	GARNL3,missense_variant,p.Ser1005Tyr,ENST00000373387,NM_032293.4;GARNL3,missense_variant,p.Ser983Tyr,ENST00000435213,NM_001286779.1;GARNL3,3_prime_UTR_variant,,ENST00000314904,;SLC2A8,upstream_gene_variant,,ENST00000373371,NM_014580.4;SLC2A8,upstream_gene_variant,,ENST00000373360,NM_001271711.1;SLC2A8,upstream_gene_variant,,ENST00000451404,NM_001271712.1;SLC2A8,upstream_gene_variant,,ENST00000423934,;SLC2A8,upstream_gene_variant,,ENST00000373352,;SLC2A8,upstream_gene_variant,,ENST00000439597,;SLC2A8,upstream_gene_variant,,ENST00000419917,;SLC2A8,upstream_gene_variant,,ENST00000419132,;GARNL3,non_coding_transcript_exon_variant,,ENST00000496711,;GARNL3,3_prime_UTR_variant,,ENST00000373386,;GARNL3,non_coding_transcript_exon_variant,,ENST00000481242,;GARNL3,downstream_gene_variant,,ENST00000463005,;GARNL3,downstream_gene_variant,,ENST00000497703,;							MODERATE	3014/3042	S1005Y	GARL3_HUMAN			Transcript		benign(0.002)	.	ENSP00000362485		CCDS6869.2			1	
GLOD5	0	LGGM	GRCh37	X	48629427	48629427	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	29	4	.	.	ENST00000303227.6:c.286C>A	p.Pro96Thr	p.P96T	ENST00000303227	NM_001080489.2	96	Cca/Aca	0	1	1	UPI00003D5F30	0	getma.org/pdb.php?prot=GLOD5_HUMAN&from=31&to=143&var=P84T	ENST00000303227		ENSG00000171433	33358		33	3.235		HGNC	p.P96T		GLOD5		SNV							ENST00000303227	protein_coding	getma.org/?cm=var&var=hg19,X,48629427,C,A&fts=all		Superfamily_domains:SSF54593,Gene3D:3.10.180.10,Pfam_domain:PF12681,hmmpanther:PTHR21366,hmmpanther:PTHR21366:SF0		P/T		A	medium	327/735		getma.org/?cm=msa&ty=f&p=GLOD5_HUMAN&rb=31&re=143&var=P84T	deleterious(0)				YES	GLOD5,missense_variant,p.Pro96Thr,ENST00000303227,NM_001080489.2;GLOD5,missense_variant,p.Pro63Thr,ENST00000445229,;GLOD5,non_coding_transcript_exon_variant,,ENST00000470676,;GLOD5,downstream_gene_variant,,ENST00000463327,;AC115617.2,downstream_gene_variant,,ENST00000419045,;							MODERATE	286/483	P84T	GLOD5_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000302552		CCDS55410.1			1	
COQ10B	0	LGGM	GRCh37	2	198324672	198324672	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000263960.2:c.121G>T	p.Gly41Cys	p.G41C	ENST00000263960	NM_025147.3	41	Ggt/Tgt	0	1	1	UPI00000739C1	0	NA	ENST00000263960		ENSG00000115520	25819		36	2.16		HGNC	p.G13C		COQ10B		SNV							ENST00000409010	protein_coding	getma.org/?cm=var&var=hg19,2,198324672,G,T&fts=all		hmmpanther:PTHR12901:SF9,hmmpanther:PTHR12901		G/C		T	medium	259/2239		getma.org/?cm=msa&ty=f&p=CQ10B_HUMAN&rb=1&re=83&var=G41C	deleterious(0.01)	B7Z1Y4_HUMAN			YES	COQ10B,missense_variant,p.Gly41Cys,ENST00000263960,NM_025147.3;COQ10B,missense_variant,p.Gly13Cys,ENST00000409010,;COQ10B,5_prime_UTR_variant,,ENST00000545340,;COQ10B,intron_variant,,ENST00000409398,;COQ10B,non_coding_transcript_exon_variant,,ENST00000488445,;							MODERATE	121/717	G41C	CQ10B_HUMAN			Transcript		benign(0.037)	.	ENSP00000263960		CCDS2319.1			1	
CDC6	0	LGGM	GRCh37	17	38445685	38445685	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000209728.4:c.13C>A	p.Arg5=	p.R5=	ENST00000209728	NM_001254.3	5	Cga/Aga	0	1	1	UPI0000073C6C	0		ENST00000209728		ENSG00000094804	1744		49			HGNC	p.R5R		CDC6		SNV			1				ENST00000473555	protein_coding			PIRSF_domain:PIRSF001767,hmmpanther:PTHR10763,hmmpanther:PTHR10763:SF23		R		A		484/3072				J3QR52_HUMAN,J3QLN7_HUMAN,J3KTI7_HUMAN			YES	CDC6,synonymous_variant,p.=,ENST00000209728,NM_001254.3;CDC6,synonymous_variant,p.=,ENST00000580824,;CDC6,synonymous_variant,p.=,ENST00000473555,;CDC6,synonymous_variant,p.=,ENST00000577249,;CDC6,upstream_gene_variant,,ENST00000582402,;							LOW	13/1683		CDC6_HUMAN			Transcript			.	ENSP00000209728		CCDS11365.1			1	
GAS6	0	LGGM	GRCh37	13	114531557	114531557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	4	.	.	ENST00000327773.6:c.1271G>T	p.Gly424Val	p.G424V	ENST00000327773	NM_000820.2	424	gGa/gTa	0	1	1	UPI0000073CCA	0	getma.org/pdb.php?prot=GAS6_HUMAN&from=368&to=497&var=G467V	ENST00000327773		ENSG00000183087	4168		14	2.815		HGNC	p.G370V		GAS6		SNV							ENST00000355761	protein_coding	getma.org/?cm=var&var=hg19,13,114531557,C,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR24035:SF21,hmmpanther:PTHR24035,Gene3D:2.60.120.200,Pfam_domain:PF00054,SMART_domains:SM00282,Superfamily_domains:SSF49899		G/V		A	medium	1418/2490		getma.org/?cm=msa&ty=f&p=GAS6_HUMAN&rb=368&re=497&var=G467V	deleterious(0)	B4DZY7_HUMAN			YES	GAS6,missense_variant,p.Gly467Val,ENST00000357389,;GAS6,missense_variant,p.Gly125Val,ENST00000418959,NM_001143946.1;GAS6,missense_variant,p.Gly424Val,ENST00000327773,NM_000820.2;GAS6,missense_variant,p.Gly370Val,ENST00000355761,;GAS6,missense_variant,p.Gly151Val,ENST00000450766,NM_001143945.1;GAS6-AS1,intron_variant,,ENST00000458001,;GAS6,non_coding_transcript_exon_variant,,ENST00000480426,;GAS6,non_coding_transcript_exon_variant,,ENST00000610073,;							MODERATE	1271/2037	G467V	GAS6_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000331831		CCDS45072.1			1	
MAP3K10	0	LGGM	GRCh37	19	40698452	40698452	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	4	.	.	ENST00000253055.3:c.514C>A	p.Leu172Ile	p.L172I	ENST00000253055	NM_002446.3	172	Cta/Ata	0	1	1	UPI000013CDAC	0	getma.org/pdb.php?prot=M3K10_HUMAN&from=98&to=357&var=L172I	ENST00000253055		ENSG00000130758	6849		13	0.42		HGNC	p.L172I		MAP3K10		SNV							ENST00000253055	protein_coding	getma.org/?cm=var&var=hg19,19,40698452,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000556,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/I		A	neutral	802/3436		getma.org/?cm=msa&ty=f&p=M3K10_HUMAN&rb=98&re=357&var=L172I	deleterious(0)				YES	MAP3K10,missense_variant,p.Leu172Ile,ENST00000253055,NM_002446.3;MAP3K10,intron_variant,,ENST00000593906,;							MODERATE	514/2865	L172I	M3K10_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000253055		CCDS12549.1			1	
LIG4	0	LGGM	GRCh37	13	108863041	108863041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000356922.4:c.576G>T	p.Lys192Asn	p.K192N	ENST00000356922	NM_002312.3	192	aaG/aaT	0	1	1	UPI00000742BF	0	getma.org/pdb.php?prot=DNLI4_HUMAN&from=14&to=209&var=K192N	ENST00000356922		ENSG00000174405	6601		49	3.185		HGNC	p.K192N		LIG4		SNV			1				ENST00000442234	protein_coding	getma.org/?cm=var&var=hg19,13,108863041,C,A&fts=all		hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF7,Gene3D:1x9nA01,Pfam_domain:PF04675,TIGRFAM_domain:TIGR00574,Superfamily_domains:0050884		K/N		A	medium	849/4103		getma.org/?cm=msa&ty=f&p=DNLI4_HUMAN&rb=14&re=209&var=K192N	deleterious(0)				YES	LIG4,missense_variant,p.Lys192Asn,ENST00000356922,NM_002312.3,NM_206937.1;LIG4,missense_variant,p.Lys192Asn,ENST00000405925,NM_001098268.1;LIG4,missense_variant,p.Lys192Asn,ENST00000442234,;							MODERATE	576/2736	K192N	DNLI4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349393		CCDS9508.1			1	
MTCH2	0	LGGM	GRCh37	11	47644302	47644302	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000302503.3:c.776C>A	p.Ser259Tyr	p.S259Y	ENST00000302503	NM_014342.3	259	tCc/tAc	0	1	1	UPI000006E280	0	NA	ENST00000302503		ENSG00000109919	17587		44	1.095		HGNC	p.S250Y		MTCH2		SNV							ENST00000530428	protein_coding	getma.org/?cm=var&var=hg19,11,47644302,G,T&fts=all		hmmpanther:PTHR10780,hmmpanther:PTHR10780:SF16,Gene3D:1okcA00,Superfamily_domains:0048588		S/Y		T	low	934/2587		getma.org/?cm=msa&ty=f&p=MTCH2_HUMAN&rb=207&re=303&var=S259Y	deleterious(0.01)	F5H3Y2_HUMAN			YES	MTCH2,missense_variant,p.Ser259Tyr,ENST00000302503,NM_014342.3;MTCH2,missense_variant,p.Ser111Tyr,ENST00000542981,;MTCH2,missense_variant,p.Ser250Tyr,ENST00000530428,;MTCH2,non_coding_transcript_exon_variant,,ENST00000534074,;MTCH2,non_coding_transcript_exon_variant,,ENST00000525649,;MTCH2,intron_variant,,ENST00000539759,;							MODERATE	776/912	S259Y	MTCH2_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000303222		CCDS7943.1			1	
CTRC	0	LGGM	GRCh37	1	15770031	15770031	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	4	.	.	ENST00000375949.4:c.474C>A	p.Thr158=	p.T158=	ENST00000375949	NM_007272.2	158	acC/acA	0	1	1	UPI0000000C11	0		ENST00000375949		ENSG00000162438	2523		32			HGNC	p.T158T		CTRC		SNV			1				ENST00000375949	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24250,hmmpanther:PTHR24250:SF25,SMART_domains:SM00020,Superfamily_domains:SSF50494		T		A		500/898							YES	CTRC,synonymous_variant,p.=,ENST00000375949,NM_007272.2;CTRC,3_prime_UTR_variant,,ENST00000375943,;CTRC,non_coding_transcript_exon_variant,,ENST00000483406,;CTRC,non_coding_transcript_exon_variant,,ENST00000476813,;							LOW	474/807		CTRC_HUMAN			Transcript			.	ENSP00000365116		CCDS156.1			1	
AFG3L2	0	LGGM	GRCh37	18	12340202	12340202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000269143.3:c.1978C>A	p.Gln660Lys	p.Q660K	ENST00000269143	NM_006796.2	660	Caa/Aaa	0	1	1	UPI000013D7FF	0	getma.org/pdb.php?prot=AFG32_HUMAN&from=541&to=744&var=Q660K	ENST00000269143		ENSG00000141385	315		41	2.625		HGNC	p.Q660K		AFG3L2		SNV			1				ENST00000269143	protein_coding	getma.org/?cm=var&var=hg19,18,12340202,G,T&fts=all		HAMAP:MF_01458,Pfam_domain:PF01434,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF45,Superfamily_domains:SSF140990,TIGRFAM_domain:TIGR01241		Q/K		T	medium	2210/3247		getma.org/?cm=msa&ty=f&p=AFG32_HUMAN&rb=541&re=744&var=Q660K	deleterious(0.01)	D3DUJ0_HUMAN			YES	AFG3L2,missense_variant,p.Gln660Lys,ENST00000269143,NM_006796.2;TUBB6,intron_variant,,ENST00000586691,;TUBB6,downstream_gene_variant,,ENST00000590967,;AFG3L2,downstream_gene_variant,,ENST00000588893,;							MODERATE	1978/2394	Q660K	AFG32_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000269143		CCDS11859.1			1	
ZDHHC15	0	LGGM	GRCh37	X	74698771	74698771	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	4	.	.	ENST00000373367.3:c.213C>A	p.Thr71=	p.T71=	ENST00000373367	NM_144969.2	71	acC/acA	0	1	1	UPI000006DB5A	0		ENST00000373367		ENSG00000102383	20342		12			HGNC	p.T71T		ZDHHC15		SNV			1				ENST00000373361	protein_coding			Pfam_domain:PF01529,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF6,Transmembrane_helices:TMhelix		T		T		444/5796							YES	ZDHHC15,synonymous_variant,p.=,ENST00000541184,NM_001146256.1;ZDHHC15,synonymous_variant,p.=,ENST00000373367,NM_144969.2;ZDHHC15,synonymous_variant,p.=,ENST00000373361,;							LOW	213/1014		ZDH15_HUMAN			Transcript			.	ENSP00000362465		CCDS14430.1			1	
BEST3	0	LGGM	GRCh37	12	70048925	70048925	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	4	4	.	.	ENST00000330891.5:c.1769G>A	p.Trp590Ter	p.W590*	ENST00000330891	NM_032735.2	590	tGg/tAg	0	1	1	UPI000006E397	0	NA	ENST00000330891		ENSG00000127325	17105		8	0		HGNC	p.W484X		BEST3		SNV							ENST00000553096	protein_coding	getma.org/?cm=var&var=hg19,12,70048925,C,T&fts=all				W/*		T	NA	1996/3532		NA		F8VVZ2_HUMAN			YES	BEST3,stop_gained,p.Trp590Ter,ENST00000330891,NM_032735.2;BEST3,stop_gained,p.Trp484Ter,ENST00000553096,NM_001282613.1;BEST3,stop_gained,p.Trp377Ter,ENST00000488961,NM_152439.2;BEST3,intron_variant,,ENST00000331471,NM_001282614.1;BEST3,intron_variant,,ENST00000547208,;							HIGH	1769/2007	W590*	BEST3_HUMAN			Transcript			.	ENSP00000332413		CCDS8992.2			1	
PTPRB	0	LGGM	GRCh37	12	70932750	70932750	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000334414.6:c.5823C>A	p.Leu1941=	p.L1941=	ENST00000334414	NM_001109754.2	1941	ctC/ctA	0	1		UPI00001FC788	0		ENST00000261266		ENSG00000127329	9665		49			HGNC	p.L1633L		PTPRB		SNV							ENST00000550857	protein_coding			Gene3D:3.90.190.10,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00194,Superfamily_domains:SSF52799		L		T		5199/6110								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;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;PTPRB,downstream_gene_variant,,ENST00000549400,;							LOW	5169/5994		PTPRB_HUMAN			Transcript			.	ENSP00000261266		CCDS44944.1			1	
HNRNPA0	0	LGGM	GRCh37	5	137089502	137089502	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	4	.	.	ENST00000314940.4:c.254G>T	p.Arg85Leu	p.R85L	ENST00000314940	NM_006805.3	85	cGg/cTg	0	1	1	UPI0000000C1D	0	getma.org/pdb.php?prot=ROA0_HUMAN&from=7&to=86&var=R85L	ENST00000314940		ENSG00000177733	5030		27	3.13		HGNC	p.R85L		HNRNPA0		SNV							ENST00000314940	protein_coding	getma.org/?cm=var&var=hg19,5,137089502,C,A&fts=all		Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24012,PROSITE_profiles:PS50102		R/L		A	medium	538/2965		getma.org/?cm=msa&ty=f&p=ROA0_HUMAN&rb=7&re=86&var=R85L	deleterious(0.01)				YES	HNRNPA0,missense_variant,p.Arg85Leu,ENST00000314940,NM_006805.3;							MODERATE	254/918	R85L	ROA0_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000316042		CCDS4193.1			1	
BTBD7	0	LGGM	GRCh37	14	93709361	93709361	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	4	.	.	ENST00000334746.5:c.2657G>T	p.Arg886Met	p.R886M	ENST00000334746	NM_001002860.2	886	aGg/aTg	0	1	1	UPI00001FDA78	0	NA	ENST00000334746		ENSG00000011114	18269		46	0.695		HGNC	p.R501M		BTBD7		SNV							ENST00000553975	protein_coding	getma.org/?cm=var&var=hg19,14,93709361,C,A&fts=all		hmmpanther:PTHR16064		R/M		A	neutral	2965/8430		getma.org/?cm=msa&ty=f&p=BTBD7_HUMAN&rb=689&re=888&var=R886M	deleterious_low_confidence(0)	G3V2J4_HUMAN			YES	BTBD7,missense_variant,p.Arg886Met,ENST00000334746,NM_001002860.2;BTBD7,missense_variant,p.Arg535Met,ENST00000554565,;BTBD7,missense_variant,p.Arg460Met,ENST00000393170,;BTBD7,missense_variant,p.Arg501Met,ENST00000553975,;BTBD7,3_prime_UTR_variant,,ENST00000355125,;RP11-85G20.2,upstream_gene_variant,,ENST00000492041,;							MODERATE	2657/3399	R886M	BTBD7_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000335615		CCDS32146.1			1	
EIF4E2	0	LGGM	GRCh37	2	233431606	233431606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	4	.	.	ENST00000258416.3:c.443G>T	p.Trp148Leu	p.W148L	ENST00000258416	NM_004846.2	148	tGg/tTg	0	1	1	UPI0000073BFD	0	getma.org/pdb.php?prot=IF4E2_HUMAN&from=55&to=217&var=W148L	ENST00000258416		ENSG00000135930	3293		22	4.1		HGNC	p.W103L		EIF4E2		SNV							ENST00000409167	protein_coding	getma.org/?cm=var&var=hg19,2,233431606,G,T&fts=all		hmmpanther:PTHR11960:SF17,hmmpanther:PTHR11960,Gene3D:3.30.760.10,Pfam_domain:PF01652,Superfamily_domains:SSF55418		W/L		T	high	1116/1604		getma.org/?cm=msa&ty=f&p=IF4E2_HUMAN&rb=55&re=217&var=W148L	deleterious(0)	Q53RG0_HUMAN			YES	EIF4E2,missense_variant,p.Trp148Leu,ENST00000409514,NM_001282958.1;EIF4E2,missense_variant,p.Trp148Leu,ENST00000409098,NM_001276337.1,NM_001276336.1;EIF4E2,missense_variant,p.Trp148Leu,ENST00000258416,NM_004846.2;EIF4E2,missense_variant,p.Trp103Leu,ENST00000409167,;EIF4E2,missense_variant,p.Trp143Leu,ENST00000454501,;EIF4E2,missense_variant,p.Trp148Leu,ENST00000409495,;EIF4E2,missense_variant,p.Trp103Leu,ENST00000409322,;EIF4E2,missense_variant,p.Trp103Leu,ENST00000409394,;EIF4E2,upstream_gene_variant,,ENST00000478878,;							MODERATE	443/738	W148L	IF4E2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258416		CCDS2496.1			1	
EML5	0	LGGM	GRCh37	14	89085082	89085082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000554922.1:c.5450G>T	p.Gly1817Val	p.G1817V	ENST00000554922	NM_183387.2	1817	gGc/gTc	0	1		UPI000183882B	0	getma.org/pdb.php?prot=EMAL5_HUMAN&from=1723&to=1922&var=G1809V	ENST00000380664		ENSG00000165521	18197		40	2.775		HGNC	p.G1771V		EML5		SNV							ENST00000352093	protein_coding	getma.org/?cm=var&var=hg19,14,89085082,C,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16,Superfamily_domains:SSF50978		G/V		A	medium	5426/5910		getma.org/?cm=msa&ty=f&p=EMAL5_HUMAN&rb=1723&re=1922&var=G1809V	deleterious(0)					EML5,missense_variant,p.Gly1817Val,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Gly1771Val,ENST00000352093,;EML5,missense_variant,p.Gly1809Val,ENST00000380664,;EML5,intron_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,;							MODERATE	5426/5910	G1809V	EMAL5_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000370039					1	
CRB2	0	LGGM	GRCh37	9	126137530	126137530	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000373631.3:c.3541C>A	p.Pro1181Thr	p.P1181T	ENST00000373631	NM_173689.5	1181	Ccc/Acc	0	1	1	UPI000022D9DE	0	NA	ENST00000373631		ENSG00000148204	18688		17	2.56		HGNC	p.P849T	rs763446068	CRB2		SNV			1	0.000194			ENST00000373629	protein_coding	getma.org/?cm=var&var=hg19,9,126137530,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24043:SF1,hmmpanther:PTHR24043,Gene3D:2.10.25.10,SMART_domains:SM00181,Superfamily_domains:SSF57196		P/T		A	medium	3542/5550		getma.org/?cm=msa&ty=f&p=CRUM2_HUMAN&rb=1173&re=1209&var=P1181T	deleterious(0)				YES	CRB2,missense_variant,p.Pro1181Thr,ENST00000373631,NM_173689.5;CRB2,missense_variant,p.Pro849Thr,ENST00000373629,;DENND1A,downstream_gene_variant,,ENST00000373624,NM_020946.1;CRB2,downstream_gene_variant,,ENST00000359999,;DENND1A,downstream_gene_variant,,ENST00000473039,;CRB2,missense_variant,p.Pro849Thr,ENST00000460253,;							MODERATE	3541/3858	P1181T	CRUM2_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000362734	2.47E-05	CCDS6852.2			1	
CACNA1G	0	LGGM	GRCh37	17	48650143	48650143	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	4	.	.	ENST00000359106.5:c.975G>T	p.Ala325=	p.A325=	ENST00000359106	NM_018896.4	325	gcG/gcT	0	1	1	UPI000012727A	0		ENST00000359106		ENSG00000006283	1394		27			HGNC	p.A325A		CACNA1G		SNV							ENST00000514717	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520		A		T		975/7648							YES	CACNA1G,synonymous_variant,p.=,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,synonymous_variant,p.=,ENST00000354983,NM_198396.2;CACNA1G,synonymous_variant,p.=,ENST00000359106,NM_018896.4;CACNA1G,synonymous_variant,p.=,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,synonymous_variant,p.=,ENST00000442258,;CACNA1G,synonymous_variant,p.=,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,synonymous_variant,p.=,ENST00000507336,NM_198377.2;CACNA1G,synonymous_variant,p.=,ENST00000358244,;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.=,ENST00000502264,NM_198383.2;CACNA1G,synonymous_variant,p.=,ENST00000510115,;CACNA1G,synonymous_variant,p.=,ENST00000514079,NM_001256325.1;CACNA1G,synonymous_variant,p.=,ENST00000513689,NM_001256326.1;CACNA1G,synonymous_variant,p.=,ENST00000515165,NM_198384.2;CACNA1G,synonymous_variant,p.=,ENST00000507609,NM_001256327.1;CACNA1G,synonymous_variant,p.=,ENST00000512389,;CACNA1G,synonymous_variant,p.=,ENST00000514181,NM_001256328.1;CACNA1G,synonymous_variant,p.=,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,synonymous_variant,p.=,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,synonymous_variant,p.=,ENST00000510366,NM_001256331.1;CACNA1G,synonymous_variant,p.=,ENST00000514717,;CACNA1G,synonymous_variant,p.=,ENST00000505165,NM_001256333.1;CACNA1G,synonymous_variant,p.=,ENST00000507896,;CACNA1G,synonymous_variant,p.=,ENST00000416767,;CACNA1G,synonymous_variant,p.=,ENST00000570567,;CACNA1G,synonymous_variant,p.=,ENST00000506406,;CACNA1G,synonymous_variant,p.=,ENST00000504076,;CACNA1G,synonymous_variant,p.=,ENST00000511765,;CACNA1G,synonymous_variant,p.=,ENST00000503436,;CACNA1G,synonymous_variant,p.=,ENST00000511768,;CACNA1G,synonymous_variant,p.=,ENST00000503607,;							LOW	975/7134		CAC1G_HUMAN			Transcript			.	ENSP00000352011		CCDS45730.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186946801	186946801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	41	4	.	.	ENST00000367466.3:c.1841G>T	p.Arg614Leu	p.R614L	ENST00000367466	NM_024420.2	614	cGg/cTg	0	1	1	UPI0000203D76	0	getma.org/pdb.php?prot=PA24A_HUMAN&from=190&to=675&var=R614L	ENST00000367466		ENSG00000116711	9035		45	1.78		HGNC	p.R614L		PLA2G4A		SNV							ENST00000367466	protein_coding	getma.org/?cm=var&var=hg19,1,186946801,G,T&fts=all		Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00022,Superfamily_domains:SSF52151		R/L		T	low	1993/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=190&re=675&var=R614L	tolerated(0.12)				YES	PLA2G4A,missense_variant,p.Arg614Leu,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Arg554Leu,ENST00000442353,;							MODERATE	1841/2250	R614L	PA24A_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000356436		CCDS1372.1			1	
NFXL1	0	LGGM	GRCh37	4	47900793	47900793	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	46	4	.	.	ENST00000507489.1:c.1070C>A	p.Pro357Gln	p.P357Q	ENST00000507489	NM_001278624.1	357	cCa/cAa	0	1		UPI000018DB15	0	NA	ENST00000329043		ENSG00000170448	18726		50	2.085		HGNC	p.P357Q		NFXL1		SNV							ENST00000329043	protein_coding	getma.org/?cm=var&var=hg19,4,47900793,G,T&fts=all		hmmpanther:PTHR12360:SF1,hmmpanther:PTHR12360		P/Q		T	medium	1139/2271		getma.org/?cm=msa&ty=f&p=NFXL1_HUMAN&rb=338&re=370&var=P357Q	deleterious(0.01)					NFXL1,missense_variant,p.Pro357Gln,ENST00000507489,NM_001278624.1;NFXL1,missense_variant,p.Pro357Gln,ENST00000381538,NM_152995.5,NM_001278623.1;NFXL1,missense_variant,p.Pro357Gln,ENST00000329043,;NFXL1,missense_variant,p.Pro357Gln,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;							MODERATE	1070/2202	P357Q	NFXL1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000333113					1	
ITIH6	0	LGGM	GRCh37	X	54784435	54784435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	4	.	.	ENST00000218436.6:c.2072G>T	p.Gly691Val	p.G691V	ENST00000218436	NM_198510.2	691	gGa/gTa	0	1	1	UPI00000540C8	0	NA	ENST00000218436		ENSG00000102313	28907		19	0.345		HGNC	p.G691V		ITIH6		SNV							ENST00000218436	protein_coding	getma.org/?cm=var&var=hg19,X,54784435,C,A&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10		G/V		A	neutral	2102/4968		getma.org/?cm=msa&ty=f&p=ITIH6_HUMAN&rb=601&re=800&var=G691V	deleterious(0)				YES	ITIH6,missense_variant,p.Gly691Val,ENST00000218436,NM_198510.2;							MODERATE	2072/3942	G691V	ITIH6_HUMAN			Transcript		benign(0.348)	.	ENSP00000218436		CCDS14361.1			1	
MED17	0	LGGM	GRCh37	11	93523838	93523838	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	75	4	.	.	ENST00000251871.3:c.516C>A	p.Thr172=	p.T172=	ENST00000251871	NM_004268.4	172	acC/acA	0	1	1	UPI000013CD1D	0		ENST00000251871		ENSG00000042429	2375		79			HGNC	p.T64T		MED17		SNV			1				ENST00000528786	protein_coding			Pfam_domain:PF10156,hmmpanther:PTHR13114		T		A		803/4874				E9PJZ4_HUMAN			YES	MED17,synonymous_variant,p.=,ENST00000251871,NM_004268.4;MED17,synonymous_variant,p.=,ENST00000533359,;MED17,synonymous_variant,p.=,ENST00000528786,;MED17,downstream_gene_variant,,ENST00000530819,;MED17,upstream_gene_variant,,ENST00000533367,;MED17,synonymous_variant,p.=,ENST00000533133,;MED17,non_coding_transcript_exon_variant,,ENST00000525026,;MED17,upstream_gene_variant,,ENST00000531920,;MED17,upstream_gene_variant,,ENST00000507258,;							LOW	516/1956		MED17_HUMAN			Transcript			.	ENSP00000251871		CCDS8295.1			1	
COL1A1	0	LGGM	GRCh37	17	48263704	48263704	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	61	4	.	.	ENST00000225964.5:c.3979G>T	p.Gly1327Cys	p.G1327C	ENST00000225964	NM_000088.3	1327	Ggc/Tgc	0	1	1	UPI000013C88B	0	NA	ENST00000225964		ENSG00000108821	2197		65	4.08		HGNC	p.G1327C		COL1A1		SNV			1				ENST00000225964	protein_coding	getma.org/?cm=var&var=hg19,17,48263704,C,A&fts=all		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01410,SMART_domains:SM00038		G/C		A	high	4098/6727		getma.org/?cm=msa&ty=f&p=CO1A1_HUMAN&rb=1245&re=1463&var=G1327C		Q9UMA6_HUMAN,Q6LAN8_HUMAN			YES	COL1A1,missense_variant,p.Gly1327Cys,ENST00000225964,NM_000088.3;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,;							MODERATE	3979/4395	G1327C	CO1A1_HUMAN			Transcript		unknown(0)	.	ENSP00000225964		CCDS11561.1			1	
C12orf56	0	LGGM	GRCh37	12	64668746	64668746	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	65	4	.	.	ENST00000333722.5:c.1039G>T	p.Gly347Ter	p.G347*	ENST00000333722	NM_001099676.2	347	Gga/Tga	0	1		UPI0001C0B37D	0	NA	ENST00000543942		ENSG00000185306	26967		69	0		HGNC	p.G508X	rs201789726	C12orf56	0.000243	SNV	T:0						ENST00000543942	protein_coding	getma.org/?cm=var&var=hg19,12,64668746,C,A&fts=all	T:0	Pfam_domain:PF15087		G/*	T:0.0004	A	NA	2146/3242		NA			T:0	T:0		C12orf56,stop_gained,p.Gly507Ter,ENST00000543942,NM_001170633.1;C12orf56,stop_gained,p.Gly347Ter,ENST00000333722,NM_001099676.2;C12orf56,non_coding_transcript_exon_variant,,ENST00000536975,;C12orf56,non_coding_transcript_exon_variant,,ENST00000542397,;RPS11P6,intron_variant,,ENST00000535684,;C12orf56,upstream_gene_variant,,ENST00000535515,;C12orf56,non_coding_transcript_exon_variant,,ENST00000541802,;		T:0.0006					HIGH	1519/1869	G510*	CL056_HUMAN		T:0	Transcript			.	ENSP00000446101	3.31E-05	CCDS61182.1		T:0.0031	1	
NCAPH	0	LGGM	GRCh37	2	97008969	97008969	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	4	.	.	ENST00000240423.4:c.522C>A	p.Ala174=	p.A174=	ENST00000240423	NM_001281711.1	174	gcC/gcA	0	1	1	UPI0000163F72	0		ENST00000240423		ENSG00000121152	1112		17			HGNC	p.A174A		NCAPH		SNV							ENST00000240423	protein_coding			hmmpanther:PTHR13108,Pfam_domain:PF05786,PIRSF_domain:PIRSF017126		A		A		565/2763				E9PHA2_HUMAN,B4E189_HUMAN			YES	NCAPH,synonymous_variant,p.=,ENST00000455200,;NCAPH,synonymous_variant,p.=,ENST00000240423,NM_001281711.1,NM_001281710.1,NM_015341.4;NCAPH,synonymous_variant,p.=,ENST00000427946,NM_001281712.1;NCAPH,synonymous_variant,p.=,ENST00000435975,;NCAPH,intron_variant,,ENST00000456906,;NCAPH,non_coding_transcript_exon_variant,,ENST00000477409,;							LOW	522/2226		CND2_HUMAN			Transcript			.	ENSP00000240423		CCDS2021.1			1	
SRP68	0	LGGM	GRCh37	17	74063398	74063398	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	52	4	.	.	ENST00000307877.2:c.265C>A	p.Arg89Ser	p.R89S	ENST00000307877	NM_014230.3	89	Cgt/Agt	0	1	1	UPI000006EAEC	0	NA	ENST00000307877		ENSG00000167881	11302		56	1.9		HGNC	p.P54Q		SRP68		SNV							ENST00000592704	protein_coding	getma.org/?cm=var&var=hg19,17,74063398,G,T&fts=all		PIRSF_domain:PIRSF038995,hmmpanther:PTHR12860,Low_complexity_(Seg):seg		R/S		T	low	427/2649		getma.org/?cm=msa&ty=f&p=SRP68_HUMAN&rb=1&re=200&var=R89S	deleterious(0.03)	Q96K97_HUMAN,F5H5Y3_HUMAN			YES	SRP68,missense_variant,p.Arg89Ser,ENST00000307877,NM_014230.3;SRP68,5_prime_UTR_variant,,ENST00000355113,;SRP68,intron_variant,,ENST00000539137,NM_001260502.1;SRP68,upstream_gene_variant,,ENST00000585539,;SRP68,missense_variant,p.Pro54Gln,ENST00000592704,;SRP68,3_prime_UTR_variant,,ENST00000591272,;SRP68,upstream_gene_variant,,ENST00000587864,;ZACN,upstream_gene_variant,,ENST00000591500,;							MODERATE	265/1884	R89S	SRP68_HUMAN			Transcript		possibly_damaging(0.835)	.	ENSP00000312066		CCDS11738.1			1	
SLC5A9	0	LGGM	GRCh37	1	48703360	48703360	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	4	.	.	ENST00000236495.5:c.1377G>T	p.Val459=	p.V459=	ENST00000236495	NM_001135181.1	459	gtG/gtT	0	1		UPI0000418E63	0		ENST00000438567		ENSG00000117834	22146		27			HGNC	p.V434V		SLC5A9		SNV							ENST00000438567	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF96,hmmpanther:PTHR11819,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813		V		T		1354/3195								SLC5A9,synonymous_variant,p.=,ENST00000236495,NM_001135181.1;SLC5A9,synonymous_variant,p.=,ENST00000438567,NM_001011547.2;SLC5A9,synonymous_variant,p.=,ENST00000533824,;SLC5A9,3_prime_UTR_variant,,ENST00000420136,;SLC5A9,upstream_gene_variant,,ENST00000471020,;SLC5A9,upstream_gene_variant,,ENST00000525901,;SLC5A9,3_prime_UTR_variant,,ENST00000425816,;SLC5A9,3_prime_UTR_variant,,ENST00000441260,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;SLC5A9,upstream_gene_variant,,ENST00000532322,;							LOW	1302/2046		SC5A9_HUMAN			Transcript			.	ENSP00000401730		CCDS30709.2			1	
MUC2	0	LGGM	GRCh37	11	1091487	1091487	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	4	.	.	ENST00000441003.2:c.3896C>A	p.Pro1299Gln	p.P1299Q	ENST00000441003	NM_002457.2	1299	cCg/cAg	0	1	1	UPI00006C10F2	0	NA	ENST00000441003		ENSG00000198788	7512		41	0		HGNC	p.P1300Q		MUC2		SNV							ENST00000359061	protein_coding	getma.org/?cm=var&var=hg19,11,1091487,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261		P/Q		A	neutral	3923/8637		getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=1119&re=1303&var=P1299Q		Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Pro1299Gln,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Pro1300Gln,ENST00000359061,;MUC2,upstream_gene_variant,,ENST00000361558,;MUC2,upstream_gene_variant,,ENST00000333592,;							MODERATE	3896/8454	P1299Q				Transcript		benign(0.035)	.	ENSP00000415183					1	
INO80C	0	LGGM	GRCh37	18	33077797	33077797	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	4	.	.	ENST00000441607.2:c.42C>A	p.Pro14=	p.P14=	ENST00000441607	NM_001098817.1	14	ccC/ccA	0	1		UPI0000039EC4	0		ENST00000334598		ENSG00000153391	26994		9			HGNC	p.P14P		INO80C		SNV							ENST00000441607	protein_coding			hmmpanther:PTHR31200,hmmpanther:PTHR31200:SF1		P		T		159/974				K7EIY8_HUMAN,K7EKI6_HUMAN				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.=,ENST00000590757,;RP11-322E11.6,synonymous_variant,p.=,ENST00000589258,;INO80C,synonymous_variant,p.=,ENST00000587450,;INO80C,upstream_gene_variant,,ENST00000586489,;INO80C,upstream_gene_variant,,ENST00000589273,;INO80C,synonymous_variant,p.=,ENST00000586449,;INO80C,non_coding_transcript_exon_variant,,ENST00000283410,;INO80C,non_coding_transcript_exon_variant,,ENST00000585971,;INO80C,non_coding_transcript_exon_variant,,ENST00000589053,;							LOW	42/579		IN80C_HUMAN			Transcript			.	ENSP00000334473		CCDS11914.1			1	
CHIA	0	LGGM	GRCh37	1	111854964	111854964	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000369740.1:c.208G>T	p.Glu70Ter	p.E70*	ENST00000369740	NM_001258001.1	70	Gaa/Taa	0	1		UPI00000727DC	0	NA	ENST00000343320		ENSG00000134216	17432		39	0		HGNC	p.E70X		CHIA		SNV							ENST00000369740	protein_coding	getma.org/?cm=var&var=hg19,1,111854964,G,T&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF00704,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF37,SMART_domains:SM00636,Superfamily_domains:SSF51445		E/*		T	NA	302/1622		NA		E9PLJ2_HUMAN				CHIA,stop_gained,p.Glu70Ter,ENST00000369740,NM_001258001.1,NM_201653.3;CHIA,stop_gained,p.Glu70Ter,ENST00000343320,;CHIA,intron_variant,,ENST00000451398,NM_001258004.1;CHIA,intron_variant,,ENST00000422815,NM_021797.3,NM_001258003.1;CHIA,intron_variant,,ENST00000430615,;CHIA,intron_variant,,ENST00000353665,NM_001258005.1;CHIA,intron_variant,,ENST00000483391,NM_001258002.1,NM_001040623.2;CHIA,intron_variant,,ENST00000489524,;CHIA,intron_variant,,ENST00000477918,;CHIA,intron_variant,,ENST00000352594,;							HIGH	208/1431	E70*	CHIA_HUMAN			Transcript			.	ENSP00000341828		CCDS41368.1			1	
SP3	0	LGGM	GRCh37	2	174777852	174777852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	4	.	.	ENST00000310015.6:c.1975G>T	p.Gly659Cys	p.G659C	ENST00000310015	NM_001172712.1	659	Ggt/Tgt	0	1	1	UPI000019B3E0	0	getma.org/pdb.php?prot=SP3_HUMAN&from=637&to=664&var=G659C	ENST00000310015		ENSG00000172845	11208		28	3.125		HGNC	p.G659C	COSM717701	SP3		SNV						1	ENST00000310015	protein_coding	getma.org/?cm=var&var=hg19,2,174777852,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF3,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/C		A	medium	2506/6359		getma.org/?cm=msa&ty=f&p=SP3_HUMAN&rb=617&re=684&var=G659C	deleterious(0)	Q68DP2_HUMAN,H0Y6K5_HUMAN			YES	SP3,missense_variant,p.Gly659Cys,ENST00000310015,NM_001172712.1,NM_003111.4;SP3,missense_variant,p.Gly606Cys,ENST00000455789,;SP3,missense_variant,p.Gly591Cys,ENST00000418194,NM_001017371.4;SP3,missense_variant,p.Gly616Cys,ENST00000416195,;SP3,non_coding_transcript_exon_variant,,ENST00000465379,;					1		MODERATE	1975/2346	G659C	SP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310301		CCDS2254.1			1	
NEB	0	LGGM	GRCh37	2	152380908	152380908	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	42	4	.	.	ENST00000397345.3:c.22396C>A	p.Arg7466Ser	p.R7466S	ENST00000397345	NM_001164508.1	7466	Cgc/Agc	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		46	1.445		HGNC	p.R7466S		NEB		SNV			1				ENST00000397345	protein_coding	getma.org/?cm=var&var=hg19,2,152380908,G,T&fts=all		Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		R/S		T	low	17441/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=5721&re=5787&var=R5765S		J3QK84_HUMAN				NEB,missense_variant,p.Arg7466Ser,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Arg7466Ser,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Arg7466Ser,ENST00000604864,;NEB,missense_variant,p.Arg7466Ser,ENST00000603639,;NEB,missense_variant,p.Arg5765Ser,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Arg5765Ser,ENST00000172853,;NEB,missense_variant,p.Arg2196Ser,ENST00000413693,;NEB,missense_variant,p.Arg89Ser,ENST00000434685,;NEB,upstream_gene_variant,,ENST00000483418,;							MODERATE	17293/20010	R5765S				Transcript		probably_damaging(0.995)	.	ENSP00000172853					1	
PRNP	0	LGGM	GRCh37	20	4680463	4680463	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000379440.4:c.597C>A	p.Thr199=	p.T199=	ENST00000379440	NM_001080121.1	199	acC/acA	0	1	1	UPI0000033C27	0		ENST00000379440		ENSG00000171867	9449		35			HGNC	p.T199T		PRNP		SNV			1				ENST00000457586	protein_coding			Low_complexity_(Seg):seg,Prints_domain:PR00341,Superfamily_domains:SSF54098,SMART_domains:SM00157,Gene3D:1.10.790.10,Pfam_domain:PF00377,hmmpanther:PTHR11522:SF0,hmmpanther:PTHR11522		T		A		884/2657				Q86XR1_HUMAN,Q6SES1_HUMAN,Q53YK7_HUMAN,O75942_HUMAN,A2A2V1_HUMAN			YES	PRNP,synonymous_variant,p.=,ENST00000379440,NM_001080121.1,NM_001080122.1,NM_001271561.1,NM_183079.2,NM_000311.3,NM_001080123.1;PRNP,synonymous_variant,p.=,ENST00000430350,;PRNP,synonymous_variant,p.=,ENST00000457586,;PRNP,synonymous_variant,p.=,ENST00000424424,;							LOW	597/762		PRIO_HUMAN			Transcript			.	ENSP00000368752		CCDS13080.1			1	
TDRD5	0	LGGM	GRCh37	1	179561902	179561902	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000444136.1:c.152G>T	p.Arg51Leu	p.R51L	ENST00000444136	NM_001199089.1	51	cGg/cTg	0	1		UPI00001C0E0A	0	getma.org/pdb.php?prot=TDRD5_HUMAN&from=6&to=75&var=R51L	ENST00000294848		ENSG00000162782	20614		40	1.525		HGNC	p.R51L	rs755721033	TDRD5	6.06E-05	SNV							ENST00000294848	protein_coding	getma.org/?cm=var&var=hg19,1,179561902,G,T&fts=all		Pfam_domain:PF12872,PROSITE_profiles:PS51644,hmmpanther:PTHR22948		R/L		T	low	402/3525		getma.org/?cm=msa&ty=f&p=TDRD5_HUMAN&rb=6&re=75&var=R51L	deleterious(0)					TDRD5,missense_variant,p.Arg51Leu,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,missense_variant,p.Arg51Leu,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Arg51Leu,ENST00000294848,NM_173533.3,NM_001199092.1;RP11-545A16.4,downstream_gene_variant,,ENST00000567150,;RP11-545A16.3,downstream_gene_variant,,ENST00000427215,;							MODERATE	152/2946	R51L	TDRD5_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000294848	8.24E-06	CCDS1332.1			1	
PTDSS1	0	LGGM	GRCh37	8	97343262	97343262	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	4	.	.	ENST00000517309.1:c.1251G>T	p.Ser417=	p.S417=	ENST00000517309	NM_014754.1	417	tcG/tcT	0	1	1	UPI0000132810	0		ENST00000517309		ENSG00000156471	9587		49			HGNC	p.S214S		PTDSS1		SNV			1				ENST00000522072	protein_coding			hmmpanther:PTHR12615,hmmpanther:PTHR12615:SF1		S		T		1577/5177				Q9BUQ5_HUMAN			YES	PTDSS1,synonymous_variant,p.=,ENST00000517309,NM_014754.1;PTDSS1,synonymous_variant,p.=,ENST00000455950,;PTDSS1,synonymous_variant,p.=,ENST00000522072,;PTDSS1,3_prime_UTR_variant,,ENST00000337004,;PTDSS1,non_coding_transcript_exon_variant,,ENST00000517982,;							LOW	1251/1422		PTSS1_HUMAN			Transcript			.	ENSP00000430548		CCDS6271.1			1	
ADA	0	LGGM	GRCh37	20	43252921	43252921	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	4	.	.	ENST00000372874.4:c.528C>A	p.Thr176=	p.T176=	ENST00000372874	NM_000022.2	176	acC/acA	0	1	1	UPI000000D982	0		ENST00000372874		ENSG00000196839	186		20			HGNC	p.T176T		ADA		SNV			1				ENST00000536532	protein_coding			Gene3D:3.20.20.140,HAMAP:MF_00540,Pfam_domain:PF00962,hmmpanther:PTHR11409,hmmpanther:PTHR11409:SF42,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01430		T		T		663/1539							YES	ADA,synonymous_variant,p.=,ENST00000372874,NM_000022.2;ADA,synonymous_variant,p.=,ENST00000537820,;PKIG,downstream_gene_variant,,ENST00000372887,;PKIG,downstream_gene_variant,,ENST00000372882,;Z97053.1,upstream_gene_variant,,ENST00000597250,;ADA,non_coding_transcript_exon_variant,,ENST00000464097,;ADA,non_coding_transcript_exon_variant,,ENST00000492931,;ADA,downstream_gene_variant,,ENST00000536076,;ADA,synonymous_variant,p.=,ENST00000536532,;ADA,intron_variant,,ENST00000539235,;ADA,downstream_gene_variant,,ENST00000545776,;							LOW	528/1092		ADA_HUMAN			Transcript			.	ENSP00000361965		CCDS13335.1			1	
AKR1C2	0	LGGM	GRCh37	10	5040897	5040897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	41	4	.	.	ENST00000380753.4:c.490G>T	p.Gly164Trp	p.G164W	ENST00000380753	NM_205845.2	164	Ggg/Tgg	0	1	1	UPI0000111D9F	0	getma.org/pdb.php?prot=AK1C2_HUMAN&from=18&to=301&var=G164W	ENST00000380753		ENSG00000151632	385		45	3.965		HGNC	p.G164W		AKR1C2		SNV			1				ENST00000407674	protein_coding	getma.org/?cm=var&var=hg19,10,5040897,C,A&fts=all		Prints_domain:PR00069,Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Pfam_domain:PF00248,Gene3D:3.20.20.100,PROSITE_patterns:PS00062,hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732		G/W		A	high	678/3381		getma.org/?cm=msa&ty=f&p=AK1C2_HUMAN&rb=18&re=301&var=G164W	deleterious(0)	S4R3P0_HUMAN			YES	AKR1C2,missense_variant,p.Gly164Trp,ENST00000380753,NM_205845.2;AKR1C2,missense_variant,p.Gly164Trp,ENST00000407674,NM_001354.5;AKR1C2,missense_variant,p.Gly138Trp,ENST00000421196,;AKR1C2,missense_variant,p.Gly164Trp,ENST00000604507,;AKR1C2,downstream_gene_variant,,ENST00000455190,NM_001135241.2;RP11-499O7.7,downstream_gene_variant,,ENST00000451575,;RP11-499O7.7,downstream_gene_variant,,ENST00000440414,;AKR1C2,downstream_gene_variant,,ENST00000604184,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000460124,;							MODERATE	490/972	G164W	AK1C2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370129		CCDS7062.1			1	
SIRT4	0	LGGM	GRCh37	12	120741614	120741614	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	4	.	.	ENST00000202967.4:c.250C>A	p.Arg84Ser	p.R84S	ENST00000202967	NM_012240.2	84	Cgc/Agc	0	1	1	UPI0000071F11	0	getma.org/pdb.php?prot=SIR4_HUMAN&from=45&to=314&var=R84S	ENST00000202967		ENSG00000089163	14932		18	2.95		HGNC	p.R84S		SIRT4		SNV							ENST00000202967	protein_coding	getma.org/?cm=var&var=hg19,12,120741614,C,A&fts=all		Gene3D:3.30.1600.10,HAMAP:MF_01967,Pfam_domain:PF02146,PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF6,Superfamily_domains:SSF52467		R/S		A	medium	309/1217		getma.org/?cm=msa&ty=f&p=SIR4_HUMAN&rb=45&re=314&var=R84S	deleterious(0.01)	F5H4X9_HUMAN			YES	SIRT4,missense_variant,p.Arg84Ser,ENST00000202967,NM_012240.2;SIRT4,missense_variant,p.Arg25Ser,ENST00000536460,;SIRT4,upstream_gene_variant,,ENST00000537892,;							MODERATE	250/945	R84S	SIR4_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000202967		CCDS9194.1			1	
LCAT	0	LGGM	GRCh37	16	67974155	67974155	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	4	.	.	ENST00000264005.5:c.975G>T	p.Leu325=	p.L325=	ENST00000264005	NM_000229.1	325	ctG/ctT	0	1	1	UPI0000000DE7	0		ENST00000264005		ENSG00000213398	6522		27			HGNC	p.L253L		LCAT		SNV			1				ENST00000570980	protein_coding			hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Pfam_domain:PF02450,Superfamily_domains:SSF53474		L		A		1005/1507				J3QSE5_HUMAN			YES	LCAT,synonymous_variant,p.=,ENST00000264005,NM_000229.1;LCAT,synonymous_variant,p.=,ENST00000570980,;LCAT,intron_variant,,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;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,;LCAT,downstream_gene_variant,,ENST00000575277,;CTC-479C5.12,upstream_gene_variant,,ENST00000573493,;LCAT,downstream_gene_variant,,ENST00000573846,;SLC12A4,downstream_gene_variant,,ENST00000570616,;							LOW	975/1323		LCAT_HUMAN			Transcript			.	ENSP00000264005		CCDS10854.1			1	
POLH	0	LGGM	GRCh37	6	43555190	43555190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000372236.4:c.454C>A	p.Gln152Lys	p.Q152K	ENST00000372236	NM_006502.2	152	Caa/Aaa	0	1	1	UPI000006F8FD	0	getma.org/pdb.php?prot=POLH_HUMAN&from=12&to=228&var=Q152K	ENST00000372236		ENSG00000170734	9181		36	0.175		HGNC	p.Q152K		POLH		SNV			1				ENST00000372236	protein_coding	getma.org/?cm=var&var=hg19,6,43555190,C,A&fts=all		PROSITE_profiles:PS50173,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,Gene3D:3.30.70.270,Pfam_domain:PF00817,PIRSF_domain:PIRSF036603,Superfamily_domains:SSF56672		Q/K		A	neutral	749/3540		getma.org/?cm=msa&ty=f&p=POLH_HUMAN&rb=12&re=228&var=Q152K	tolerated(0.23)	Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN			YES	POLH,missense_variant,p.Gln152Lys,ENST00000372236,NM_006502.2;POLH,missense_variant,p.Gln152Lys,ENST00000372226,;POLH,missense_variant,p.Gln90Lys,ENST00000535400,;POLH,downstream_gene_variant,,ENST00000443535,;RP3-337H4.8,downstream_gene_variant,,ENST00000417591,;							MODERATE	454/2142	Q152K	POLH_HUMAN			Transcript		benign(0.001)	.	ENSP00000361310		CCDS4902.1			1	
RNASEH2C	0	LGGM	GRCh37	11	65487485	65487485	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	4	.	.	ENST00000308418.4:c.468+31C>A		*156*	ENST00000308418	NM_032193.3			0	1	1	UPI000000D799	0		ENST00000308418		ENSG00000172922	24116		24			HGNC	p.R167R		RNASEH2C		SNV			1				ENST00000527610	protein_coding							T		-/2794				E9PKP0_HUMAN			YES	RNASEH2C,synonymous_variant,p.=,ENST00000527610,;RNASEH2C,intron_variant,,ENST00000308418,NM_032193.3;RNASEH2C,intron_variant,,ENST00000528220,;KAT5,downstream_gene_variant,,ENST00000341318,NM_182710.2;KAT5,downstream_gene_variant,,ENST00000377046,NM_006388.3;KAT5,downstream_gene_variant,,ENST00000352980,NM_182709.2,NM_001206833.1;KAT5,downstream_gene_variant,,ENST00000534650,;KAT5,downstream_gene_variant,,ENST00000530446,;KAT5,downstream_gene_variant,,ENST00000533596,;RNASEH2C,intron_variant,,ENST00000531596,;RNASEH2C,intron_variant,,ENST00000534482,;RNASEH2C,intron_variant,,ENST00000533698,;KAT5,downstream_gene_variant,,ENST00000533441,;RNASEH2C,downstream_gene_variant,,ENST00000530192,;KAT5,downstream_gene_variant,,ENST00000525600,;							MODIFIER	-/495		RNH2C_HUMAN			Transcript			.	ENSP00000308193		CCDS8111.1			1	
MAP7D2	0	LGGM	GRCh37	X	20044022	20044022	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	30	4	.	.	ENST00000379643.5:c.1056C>A	p.Pro352=	p.P352=	ENST00000379643	NM_001168465.1	352	ccC/ccA	0	1		UPI00001AFEA0	0		ENST00000379651		ENSG00000184368	25899		34			HGNC	p.P266P		MAP7D2		SNV							ENST00000443379	protein_coding			hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF3		P		T		952/3930								MAP7D2,synonymous_variant,p.=,ENST00000379651,NM_152780.3;MAP7D2,synonymous_variant,p.=,ENST00000379643,NM_001168465.1;MAP7D2,synonymous_variant,p.=,ENST00000543767,;MAP7D2,synonymous_variant,p.=,ENST00000443379,NM_001168466.1;MAP7D2,synonymous_variant,p.=,ENST00000452324,NM_001168467.1;MAP7D2,non_coding_transcript_exon_variant,,ENST00000466145,;MAP7D2,intron_variant,,ENST00000485173,;							LOW	933/2199		MA7D2_HUMAN			Transcript			.	ENSP00000368972		CCDS14195.1			1	
TSPAN14	0	LGGM	GRCh37	10	82271903	82271903	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	4	.	.	ENST00000429989.3:c.454C>A	p.Gln152Lys	p.Q152K	ENST00000429989	NM_030927.2	152	Cag/Aag	0	1		UPI000004ACAE	0	NA	ENST00000372156		ENSG00000108219	23303		32	0.295		HGNC	p.Q95K		TSPAN14		SNV							ENST00000341863	protein_coding	getma.org/?cm=var&var=hg19,10,82271903,C,A&fts=all		Superfamily_domains:0037997,PIRSF_domain:PIRSF002419,Pfam_domain:PF00335,hmmpanther:PTHR19282:SF62,hmmpanther:PTHR19282		Q/K		A	neutral	956/1380		getma.org/?cm=msa&ty=f&p=TSN14_HUMAN&rb=14&re=261&var=Q152K	tolerated(0.15)					TSPAN14,missense_variant,p.Gln152Lys,ENST00000429989,NM_030927.2;TSPAN14,missense_variant,p.Gln135Lys,ENST00000372164,;TSPAN14,missense_variant,p.Gln152Lys,ENST00000372156,;TSPAN14,missense_variant,p.Gln152Lys,ENST00000372158,;TSPAN14,missense_variant,p.Gln95Lys,ENST00000341863,;TSPAN14,missense_variant,p.Gln122Lys,ENST00000372157,;TSPAN14,missense_variant,p.Gln29Lys,ENST00000481124,NM_001128309.1;TSPAN14,upstream_gene_variant,,ENST00000265450,;TSPAN14,downstream_gene_variant,,ENST00000469149,;							MODERATE	454/813	Q152K	TSN14_HUMAN			Transcript		benign(0.076)	.	ENSP00000361229		CCDS7369.1			1	
RSPO4	0	LGGM	GRCh37	20	948682	948682	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	4	.	.	ENST00000217260.4:c.179G>T	p.Arg60Leu	p.R60L	ENST00000217260	NM_001029871.3	60	cGg/cTg	0	1	1	UPI00001D8320	0	NA	ENST00000217260		ENSG00000101282	16175		43	1.43		HGNC	p.R60L		RSPO4		SNV			1				ENST00000217260	protein_coding	getma.org/?cm=var&var=hg19,20,948682,C,A&fts=all		hmmpanther:PTHR23275:SF30,hmmpanther:PTHR23275,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184		R/L		A	low	276/2707		getma.org/?cm=msa&ty=f&p=RSPO4_HUMAN&rb=1&re=200&var=R60L	deleterious(0)				YES	RSPO4,missense_variant,p.Arg60Leu,ENST00000217260,NM_001029871.3;RSPO4,missense_variant,p.Arg60Leu,ENST00000400634,NM_001040007.2;							MODERATE	179/705	R60L	RSPO4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000217260		CCDS42846.1			1	
LDLRAD2	0	LGGM	GRCh37	1	22142444	22142444	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	9	4	.	.	ENST00000344642.2:c.520G>T	p.Gly174Cys	p.G174C	ENST00000344642	NM_001013693.2	174	Ggt/Tgt	0	1	1	UPI0000470177	0	NA	ENST00000344642		ENSG00000187942	32071		13	2.045		HGNC	p.G174C		LDLRAD2		SNV							ENST00000344642	protein_coding	getma.org/?cm=var&var=hg19,1,22142444,G,T&fts=all		PROSITE_profiles:PS50068,hmmpanther:PTHR24652:SF54,hmmpanther:PTHR24652,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424		G/C		T	medium	707/4012		getma.org/?cm=msa&ty=f&p=LRAD2_HUMAN&rb=171&re=213&var=G174C	tolerated(0.06)				YES	LDLRAD2,missense_variant,p.Gly174Cys,ENST00000344642,NM_001013693.2;LDLRAD2,missense_variant,p.Gly174Cys,ENST00000543870,;							MODERATE	520/819	G174C	LRAD2_HUMAN			Transcript		possibly_damaging(0.581)	.	ENSP00000340988		CCDS30624.1			1	
PASK	0	LGGM	GRCh37	2	242079429	242079429	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	6	4	.	.	ENST00000358649.4:c.471del	p.Tyr157Ter	p.Y157*	ENST00000358649		157	taC/ta	0	1		UPI000013C995	0		ENST00000234040		ENSG00000115687	17270		10			HGNC	p.Y157X		PASK		deletion							ENST00000405260	protein_coding			PROSITE_profiles:PS50112,hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF2,Gene3D:3.30.450.20,TIGRFAM_domain:TIGR00229,Pfam_domain:PF13426,SMART_domains:SM00091,Superfamily_domains:SSF55785		Y/X		-		604/4572				Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN,B7Z7V7_HUMAN				PASK,frameshift_variant,p.Tyr157Ter,ENST00000403638,NM_001252124.1;PASK,frameshift_variant,p.Tyr157Ter,ENST00000405260,NM_001252120.1;PASK,frameshift_variant,p.Tyr157Ter,ENST00000234040,NM_001252119.1,NM_001252122.1,NM_015148.3;PASK,frameshift_variant,p.Tyr157Ter,ENST00000358649,;PASK,intron_variant,,ENST00000544142,;PASK,intron_variant,,ENST00000539818,;PASK,intron_variant,,ENST00000415234,;PASK,upstream_gene_variant,,ENST00000433589,;PASK,downstream_gene_variant,,ENST00000452907,;PASK,non_coding_transcript_exon_variant,,ENST00000485940,;PASK,intron_variant,,ENST00000437780,;							HIGH	471/3972		PASK_HUMAN			Transcript			.	ENSP00000234040		CCDS2545.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102505352	102505352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000360184.4:c.11221C>A	p.Arg3741Ser	p.R3741S	ENST00000360184	NM_001376.4	3741	Cgt/Agt	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=3553&to=3781&var=R3741S	ENST00000360184		ENSG00000197102	2961		36	2.035		HGNC	p.R3741S		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102505352,C,A&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12781		R/S		A	medium	11385/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=3553&re=3781&var=R3741S		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Arg3741Ser,ENST00000360184,NM_001376.4;DYNC1H1,missense_variant,p.Arg168Ser,ENST00000553423,;RP11-1017G21.4,intron_variant,,ENST00000557551,;RP11-1017G21.4,intron_variant,,ENST00000557242,;RP11-1017G21.4,intron_variant,,ENST00000553701,;DYNC1H1,downstream_gene_variant,,ENST00000556791,;DYNC1H1,upstream_gene_variant,,ENST00000555102,;DYNC1H1,non_coding_transcript_exon_variant,,ENST00000555800,;DYNC1H1,upstream_gene_variant,,ENST00000556139,;DYNC1H1,upstream_gene_variant,,ENST00000556499,;							MODERATE	11221/13941	R3741S	DYHC1_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000348965		CCDS9966.1			1	
LRCH1	0	LGGM	GRCh37	13	47315891	47315891	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	74	4	.	.	ENST00000389797.3:c.2200C>A	p.Arg734Ser	p.R734S	ENST00000389797	NM_001164211.1	734	Cgc/Agc	0	1		UPI00001FCD62	0	NA	ENST00000389798		ENSG00000136141	20309		78	0		HGNC	p.R699S		LRCH1		SNV							ENST00000389798	protein_coding	getma.org/?cm=var&var=hg19,13,47315891,C,A&fts=all				R/S		A	neutral	2292/4131		getma.org/?cm=msa&ty=f&p=LRCH1_HUMAN&rb=690&re=728&var=R699S	tolerated(0.26)	C9JWE0_HUMAN,C9J5B8_HUMAN				LRCH1,missense_variant,p.Arg699Ser,ENST00000389798,NM_015116.2;LRCH1,missense_variant,p.Arg734Ser,ENST00000389797,NM_001164211.1;LRCH1,intron_variant,,ENST00000311191,NM_001164213.1;							MODERATE	2095/2187	R699S	LRCH1_HUMAN			Transcript		benign(0.341)	.	ENSP00000374448		CCDS31972.1			1	
HMCN2	0	LGGM	GRCh37	9	133058985	133058985	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	4	.	.	ENST00000415566.2:c.665C>A	p.Ile222=	p.I222=	ENST00000415566		222	atC/atA	0	1	1	UPI0002B8331E	0		ENST00000415566		ENSG00000148357	21293		12			HGNC	p.I271I		HMCN2		SNV							ENST00000415566	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF25		I		A		665/2091								HMCN2,synonymous_variant,p.=,ENST00000415566,;							LOW	666/2092					Transcript			.	ENSP00000389272					1	
SHANK2	0	LGGM	GRCh37	11	70544821	70544821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	4	.	.	ENST00000338508.4:c.1828G>T	p.Gly610Cys	p.G610C	ENST00000338508		610	Ggc/Tgc	0	1		UPI000198F7E4	0	NA	ENST00000423696		ENSG00000162105	14295		14	2.015		HGNC	p.G230C		SHANK2		SNV			1				ENST00000423696	protein_coding	getma.org/?cm=var&var=hg19,11,70544821,C,A&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		G/C		A	medium	725/7884		getma.org/?cm=msa&ty=f&p=SHAN2_HUMAN&rb=205&re=246&var=G230C	deleterious(0)					SHANK2,missense_variant,p.Gly610Cys,ENST00000338508,;SHANK2,missense_variant,p.Gly230Cys,ENST00000423696,;SHANK2,missense_variant,p.Gly240Cys,ENST00000294018,;SHANK2,missense_variant,p.Gly19Cys,ENST00000426687,;SHANK2,non_coding_transcript_exon_variant,,ENST00000468619,;SHANK2,non_coding_transcript_exon_variant,,ENST00000470759,;SHANK2,non_coding_transcript_exon_variant,,ENST00000498519,;							MODERATE	688/4413	G230C	SHAN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000394536					1	
SKIDA1	0	LGGM	GRCh37	10	21804814	21804814	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	89	4	.	.	ENST00000449193.2:c.1938G>T	p.Thr646=	p.T646=	ENST00000449193	NM_207371.3	646	acG/acT	0	1	1	UPI00015386B3	0		ENST00000449193		ENSG00000180592	32697		93			HGNC	p.T567T		SKIDA1		SNV							ENST00000444772	protein_coding			Pfam_domain:PF15223,hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF2		T		A		4191/6598				E9PAX1_HUMAN			YES	SKIDA1,synonymous_variant,p.=,ENST00000449193,NM_207371.3;SKIDA1,synonymous_variant,p.=,ENST00000444772,;SKIDA1,downstream_gene_variant,,ENST00000487107,;							LOW	1938/2727					Transcript			.	ENSP00000410041		CCDS44363.1			1	
PPRC1	0	LGGM	GRCh37	10	103899423	103899423	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	44	4	.	.	ENST00000278070.2:c.1158C>A	p.Ala386=	p.A386=	ENST00000278070	NM_015062.3	386	gcC/gcA	0	1	1	UPI000013DB5C	0		ENST00000278070		ENSG00000148840	30025		48			HGNC	p.A386A		PPRC1		SNV							ENST00000413464	protein_coding			hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF5		A		A		1197/5330							YES	PPRC1,synonymous_variant,p.=,ENST00000278070,NM_015062.3,NM_001288728.1;PPRC1,synonymous_variant,p.=,ENST00000413464,NM_001288727.1;PPRC1,upstream_gene_variant,,ENST00000370012,;PPRC1,upstream_gene_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000462933,;							LOW	1158/4995		PPRC1_HUMAN			Transcript			.	ENSP00000278070		CCDS7529.1			1	
WDR70	0	LGGM	GRCh37	5	37605329	37605329	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	55	4	.	.	ENST00000265107.4:c.1081C>A	p.Arg361=	p.R361=	ENST00000265107	NM_018034.2	361	Cga/Aga	0	1	1	UPI0000049FC2	0		ENST00000265107		ENSG00000082068	25495		59			HGNC	p.R361R		WDR70		SNV							ENST00000504564	protein_coding			Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR16017,hmmpanther:PTHR16017:SF0,PROSITE_profiles:PS50294		R		A		1237/2983							YES	WDR70,synonymous_variant,p.=,ENST00000265107,NM_018034.2;WDR70,synonymous_variant,p.=,ENST00000504564,;WDR70,non_coding_transcript_exon_variant,,ENST00000510699,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;							LOW	1081/1965		WDR70_HUMAN			Transcript			.	ENSP00000265107		CCDS34147.1			1	
TMEM98	0	LGGM	GRCh37	17	31267870	31267870	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	4	.	.	ENST00000579849.1:c.540G>T	p.Thr180=	p.T180=	ENST00000579849	NM_015544.2	180	acG/acT	0	1		UPI00000361DE	0		ENST00000394642		ENSG00000006042	24529		40			HGNC	p.T160T	rs759666021	TMEM98		SNV			1				ENST00000261713	protein_coding			hmmpanther:PTHR32510		T		T		922/1683				J3QS57_HUMAN,J3QLG7_HUMAN,C9J6Q8_HUMAN,C9J3Y0_HUMAN				TMEM98,synonymous_variant,p.=,ENST00000579849,NM_015544.2;TMEM98,synonymous_variant,p.=,ENST00000394642,NM_001033504.1;TMEM98,synonymous_variant,p.=,ENST00000439138,;TMEM98,synonymous_variant,p.=,ENST00000261713,;TMEM98,intron_variant,,ENST00000578289,;TMEM98,downstream_gene_variant,,ENST00000395149,;TMEM98,downstream_gene_variant,,ENST00000583120,;	0.000116						LOW	540/681		TMM98_HUMAN			Transcript			.	ENSP00000378138	8.24E-06	CCDS11274.1			1	
NRP1	0	LGGM	GRCh37	10	33474613	33474613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	27	4	.	.	ENST00000265371.4:c.2374G>T	p.Gly792Trp	p.G792W	ENST00000265371		792	Ggg/Tgg	0	1	1	UPI000013D60A	0	getma.org/pdb.php?prot=NRP1_HUMAN&from=650&to=811&var=G792W	ENST00000265371		ENSG00000099250	8004		31	1.525		HGNC	p.G792W		NRP1		SNV							ENST00000374867	protein_coding	getma.org/?cm=var&var=hg19,10,33474613,C,A&fts=all		Pfam_domain:PF00629,PIRSF_domain:PIRSF036960,Prints_domain:PR00020,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899		G/W		A	low	2900/5882		getma.org/?cm=msa&ty=f&p=NRP1_HUMAN&rb=650&re=811&var=G792W	deleterious(0.01)	Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN			YES	NRP1,missense_variant,p.Gly792Trp,ENST00000265371,;NRP1,missense_variant,p.Gly792Trp,ENST00000374867,NM_001244973.1,NM_003873.5,NM_001244972.1;NRP1,missense_variant,p.Gly604Trp,ENST00000374875,;NRP1,missense_variant,p.Gly792Trp,ENST00000395995,;NRP1,upstream_gene_variant,,ENST00000413802,;							MODERATE	2374/2772	G792W	NRP1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000265371		CCDS7177.1			1	
PGBD4	0	LGGM	GRCh37	15	34395532	34395532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	4	.	.	ENST00000397766.2:c.800C>A	p.Pro267Gln	p.P267Q	ENST00000397766	NM_152595.4	267	cCg/cAg	0	1	1	UPI0000161593	0	NA	ENST00000397766		ENSG00000182405	19401		35	2.34		HGNC	p.P267Q		PGBD4		SNV							ENST00000397766	protein_coding	getma.org/?cm=var&var=hg19,15,34395532,C,A&fts=all		Pfam_domain:PF13843		P/Q		A	medium	1259/2318		getma.org/?cm=msa&ty=f&p=PGBD4_HUMAN&rb=103&re=468&var=P267Q	deleterious(0.03)				YES	PGBD4,missense_variant,p.Pro267Gln,ENST00000397766,NM_152595.4;EMC7,upstream_gene_variant,,ENST00000256545,NM_020154.2;EMC7,upstream_gene_variant,,ENST00000527822,;EMC7,upstream_gene_variant,,ENST00000528949,;EMC7,upstream_gene_variant,,ENST00000532113,;							MODERATE	800/1758	P267Q	PGBD4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380872		CCDS10033.1			1	
TCOF1	0	LGGM	GRCh37	5	149772323	149772323	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	2	4	.	.	ENST00000504761.2:c.3570C>A	p.Ser1190=	p.S1190=	ENST00000504761		1190	tcC/tcA	0	1		UPI000020CF90	0		ENST00000377797		ENSG00000070814	11654		6			HGNC	p.S1153S		TCOF1		SNV			1				ENST00000439160	protein_coding			hmmpanther:PTHR20787		S		A		3681/5098				Q9UFD4_HUMAN				TCOF1,synonymous_variant,p.=,ENST00000451292,;TCOF1,synonymous_variant,p.=,ENST00000377797,NM_001135243.1;TCOF1,synonymous_variant,p.=,ENST00000323668,NM_000356.3;TCOF1,synonymous_variant,p.=,ENST00000445265,NM_001135245.1;TCOF1,synonymous_variant,p.=,ENST00000513346,;TCOF1,synonymous_variant,p.=,ENST00000439160,NM_001135244.1,NM_001195141.1;TCOF1,synonymous_variant,p.=,ENST00000504761,;TCOF1,synonymous_variant,p.=,ENST00000427724,;TCOF1,intron_variant,,ENST00000515516,;TCOF1,non_coding_transcript_exon_variant,,ENST00000514442,;TCOF1,non_coding_transcript_exon_variant,,ENST00000506630,;TCOF1,downstream_gene_variant,,ENST00000506767,;							LOW	3573/4470		TCOF_HUMAN			Transcript			.	ENSP00000367028					1	
TBX21	0	LGGM	GRCh37	17	45822295	45822295	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	4	.	.	ENST00000177694.1:c.1171C>A	p.Arg391=	p.R391=	ENST00000177694	NM_013351.1	391	Cgg/Agg	0	1	1	UPI0000001C88	0		ENST00000177694		ENSG00000073861	11599		36			HGNC	p.R391R	rs778987598	TBX21	6.07E-05	SNV			1				ENST00000177694	protein_coding			hmmpanther:PTHR11267:SF95,hmmpanther:PTHR11267		R		A		1382/2572							YES	TBX21,synonymous_variant,p.=,ENST00000177694,NM_013351.1;TBX21,downstream_gene_variant,,ENST00000581328,;							LOW	1171/1608		TBX21_HUMAN			Transcript			.	ENSP00000177694	8.24E-06	CCDS11514.1			1	
ABCC8	0	LGGM	GRCh37	11	17482103	17482103	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	4	.	.	ENST00000389817.3:c.943G>T	p.Ala315Ser	p.A315S	ENST00000389817		315	Gcc/Tcc	0	1	1	UPI0000DBEF32	0	NA	ENST00000389817		ENSG00000006071	59		44	1.77		HGNC	p.A315S		ABCC8		SNV			1				ENST00000389817	protein_coding	getma.org/?cm=var&var=hg19,11,17482103,C,A&fts=all		Gene3D:2hydA01,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,Superfamily_domains:SSF90123,Transmembrane_helices:TMhelix		A/S		A	low	1012/4921		getma.org/?cm=msa&ty=f&p=ABCC8_HUMAN&rb=301&re=590&var=A315S	deleterious(0.01)				YES	ABCC8,missense_variant,p.Ala315Ser,ENST00000302539,NM_000352.3,NM_001287174.1;ABCC8,missense_variant,p.Ala315Ser,ENST00000389817,;ABCC8,missense_variant,p.Ala315Ser,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;							MODERATE	943/4746	A315S	ABCC8_HUMAN			Transcript		benign(0.349)	.	ENSP00000374467		CCDS31437.1			1	
PEX6	0	LGGM	GRCh37	6	42934263	42934263	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	4	.	.	ENST00000304611.8:c.2094G>T	p.Lys698Asn	p.K698N	ENST00000304611	NM_000287.3	698	aaG/aaT	0	1	1	UPI00001316EC	0	getma.org/pdb.php?prot=PEX6_HUMAN&from=596&to=739&var=K698N	ENST00000304611		ENSG00000124587	8859		39	2.045		HGNC	p.K698N		PEX6		SNV			1				ENST00000304611	protein_coding	getma.org/?cm=var&var=hg19,6,42934263,C,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23077:SF9,hmmpanther:PTHR23077		K/N		A	medium	2164/3478		getma.org/?cm=msa&ty=f&p=PEX6_HUMAN&rb=596&re=739&var=K698N	deleterious(0.02)				YES	PEX6,missense_variant,p.Lys698Asn,ENST00000304611,NM_000287.3;PEX6,missense_variant,p.Lys698Asn,ENST00000244546,;GNMT,downstream_gene_variant,,ENST00000372808,NM_018960.4;							MODERATE	2094/2943	K698N	PEX6_HUMAN			Transcript		benign(0.142)	.	ENSP00000303511		CCDS4877.1			1	
DUSP5	0	LGGM	GRCh37	10	112266692	112266692	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	5	.	.	ENST00000369583.3:c.529-1G>T		p.X177_splice	ENST00000369583	NM_004419.3			0	1	1	UPI000013D0FF	0		ENST00000369583		ENSG00000138166	3071		77			HGNC	-		DUSP5		SNV							ENST00000369583	protein_coding							T		-/2557							YES	DUSP5,splice_acceptor_variant,,ENST00000369583,NM_004419.3;DUSP5,splice_acceptor_variant,,ENST00000468749,;							HIGH	529/1155		DUS5_HUMAN			Transcript			.	ENSP00000358596		CCDS7566.1			1	
DSP	0	LGGM	GRCh37	6	7583295	7583295	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	67	5	.	.	ENST00000379802.3:c.5800C>A	p.Arg1934=	p.R1934=	ENST00000379802	NM_004415.2	1934	Cga/Aga	0	1	1	UPI000013C67F	0		ENST00000379802	pathogenic	ENSG00000096696	3052		72			HGNC	p.R1934R	rs121912996	DSP		SNV			1			1	ENST00000379802	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		R		A		6141/9796	3.01E-05			G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,synonymous_variant,p.=,ENST00000418664,NM_001008844.1;							LOW	5800/8616		DESP_HUMAN			Transcript			.	ENSP00000369129	1.65E-05	CCDS4501.1			1	
ZNF148	0	LGGM	GRCh37	3	124952097	124952097	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	70	5	.	.	ENST00000360647.4:c.1473G>T	p.Val491=	p.V491=	ENST00000360647	NM_021964.2	491	gtG/gtT	0	1	1	UPI000013C2FF	0		ENST00000360647		ENSG00000163848	12933		75			HGNC	p.V491V	rs373791586	ZNF148		SNV	A:0						ENST00000360647	protein_coding			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF324		V	A:0.0001	A		1959/9651				C9K0U4_HUMAN,C9JRX0_HUMAN,C9J6Y6_HUMAN			YES	ZNF148,synonymous_variant,p.=,ENST00000360647,NM_021964.2;ZNF148,synonymous_variant,p.=,ENST00000485866,;ZNF148,synonymous_variant,p.=,ENST00000484491,;ZNF148,synonymous_variant,p.=,ENST00000492394,;SLC12A8,intron_variant,,ENST00000423114,;ZNF148,intron_variant,,ENST00000468369,;ZNF148,intron_variant,,ENST00000544464,;ZNF148,non_coding_transcript_exon_variant,,ENST00000497929,;ZNF148,non_coding_transcript_exon_variant,,ENST00000496732,;							LOW	1473/2385		ZN148_HUMAN			Transcript			.	ENSP00000353863		CCDS3031.1			1	
ZC3H12B	0	LGGM	GRCh37	X	64718935	64718935	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	75	5	.	.	ENST00000338957.4:c.805C>A	p.Arg269=	p.R269=	ENST00000338957	NM_001010888.3	269	Cga/Aga	0	1	1	UPI00001D7BEA	0		ENST00000338957		ENSG00000102053	17407		80			HGNC	p.R269R		ZC3H12B		SNV							ENST00000338957	protein_coding			hmmpanther:PTHR12876:SF27,hmmpanther:PTHR12876,Pfam_domain:PF11977		R		A		872/7256				E9PAJ6_HUMAN			YES	ZC3H12B,synonymous_variant,p.=,ENST00000338957,NM_001010888.3;ZC3H12B,synonymous_variant,p.=,ENST00000423889,;							LOW	805/2511					Transcript			.	ENSP00000340839		CCDS48131.2			1	
POM121	0	LGGM	GRCh37	7	72409183	72409183	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	64	5	.	.	ENST00000395270.1:c.535C>A	p.Arg179Ser	p.R179S	ENST00000395270	NM_001257190.2	179	Cgc/Agc	0	1		UPI00017BE7A5	0	NA	ENST00000434423		ENSG00000196313	19702		69	2.255		HGNC	p.R179S		POM121		SNV							ENST00000395270	protein_coding	getma.org/?cm=var&var=hg19,7,72409183,C,A&fts=all		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5,Low_complexity_(Seg):seg		R/S		A	medium	1330/3750		getma.org/?cm=msa&ty=f&p=P121A_HUMAN&rb=1&re=559&var=R444S	deleterious(0.01)	A8MY32_HUMAN				POM121,missense_variant,p.Arg179Ser,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Arg179Ser,ENST00000257622,NM_172020.4;POM121,missense_variant,p.Arg179Ser,ENST00000358357,;POM121,missense_variant,p.Arg179Ser,ENST00000446813,;POM121,missense_variant,p.Arg444Ser,ENST00000434423,;							MODERATE	1330/3750	R444S	P121A_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000405562					1	
PCDHB12	0	LGGM	GRCh37	5	140588881	140588881	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	74	5	.	.	ENST00000239450.2:c.402G>T	p.Leu134Phe	p.L134F	ENST00000239450	NM_018932.3	134	ttG/ttT	0	1	1	UPI000000DAFD	0	getma.org/pdb.php?prot=PCDBC_HUMAN&from=113&to=138&var=L134F	ENST00000239450		ENSG00000120328	8683		79	2.335		HGNC	p.L134F		PCDHB12		SNV							ENST00000239450	protein_coding	getma.org/?cm=var&var=hg19,5,140588881,G,T&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,Superfamily_domains:SSF49313		L/F		T	medium	591/3406		getma.org/?cm=msa&ty=f&p=PCDBC_HUMAN&rb=83&re=168&var=L134F	tolerated_low_confidence(0.42)	B4DDU1_HUMAN			YES	PCDHB12,missense_variant,p.Leu134Phe,ENST00000239450,NM_018932.3;PCDHB12,intron_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;							MODERATE	402/2388	L134F	PCDBC_HUMAN			Transcript		possibly_damaging(0.718)	.	ENSP00000239450		CCDS4254.1			1	
INPP1	0	LGGM	GRCh37	2	191235678	191235678	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	5	.	.	ENST00000392329.2:c.750C>A	p.Thr250=	p.T250=	ENST00000392329	NM_001128928.1	250	acC/acA	0	1		UPI000012D697	0		ENST00000322522		ENSG00000151689	6071		83			HGNC	p.T250T		INPP1		SNV							ENST00000541441	protein_coding			Pfam_domain:PF00459,hmmpanther:PTHR20854,hmmpanther:PTHR20854:SF19,Superfamily_domains:SSF56655		T		A		1206/1919				Q6IBG4_HUMAN,E7EUX4_HUMAN,E7ET59_HUMAN,E7ENF2_HUMAN,C9J2Z6_HUMAN,C9J2N5_HUMAN,C9J173_HUMAN,C9J128_HUMAN,B8ZZF6_HUMAN				INPP1,synonymous_variant,p.=,ENST00000392329,NM_001128928.1;INPP1,synonymous_variant,p.=,ENST00000541441,;INPP1,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000470892,;							LOW	750/1200		INPP_HUMAN			Transcript			.	ENSP00000325423		CCDS2305.1			1	
RXFP1	0	LGGM	GRCh37	4	159533464	159533464	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	65	5	.	.	ENST00000307765.5:c.630C>A	p.Leu210=	p.L210=	ENST00000307765	NM_001253728.1	210	ctC/ctA	0	1	1	UPI000013EC4B	0		ENST00000307765		ENSG00000171509	19718		70			HGNC	p.L210L		RXFP1		SNV							ENST00000343542	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		A		881/3842				Q4W5D9_HUMAN,E9PCA3_HUMAN			YES	RXFP1,synonymous_variant,p.=,ENST00000307765,NM_001253728.1,NM_001253730.1,NM_001253733.1,NM_001253732.1,NM_021634.3,NM_001253727.1;RXFP1,synonymous_variant,p.=,ENST00000448688,;RXFP1,synonymous_variant,p.=,ENST00000460056,;RXFP1,synonymous_variant,p.=,ENST00000470033,;RXFP1,synonymous_variant,p.=,ENST00000343542,NM_001253729.1;RXFP1,downstream_gene_variant,,ENST00000423548,;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,3_prime_UTR_variant,,ENST00000471616,;							LOW	630/2274		RXFP1_HUMAN			Transcript			.	ENSP00000303248		CCDS43276.1			1	
SMG1	0	LGGM	GRCh37	16	18852912	18852912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	116	5	.	.	ENST00000446231.2:c.6671G>T	p.Arg2224Leu	p.R2224L	ENST00000446231		2224	cGg/cTg	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		121	2.37		HGNC	p.R2114L		SMG1		SNV							ENST00000565324	protein_coding	getma.org/?cm=var&var=hg19,16,18852912,C,A&fts=all		PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Pfam_domain:PF00454,SMART_domains:SM00146,Superfamily_domains:SSF56112		R/L		A	medium	7084/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2149&re=2427&var=R2224L	deleterious(0)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Arg2224Leu,ENST00000446231,;SMG1,missense_variant,p.Arg2224Leu,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Arg2114Leu,ENST00000565324,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;							MODERATE	6671/10986	R2224L	SMG1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000402515		CCDS45430.1			1	
FXR1	0	LGGM	GRCh37	3	180675707	180675707	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	66	5	.	.	ENST00000357559.4:c.981C>A	p.Pro327=	p.P327=	ENST00000357559	NM_001013438.2	327	ccC/ccA	0	1	1	UPI000013EA6E	0		ENST00000357559		ENSG00000114416	4023		71			HGNC	p.P278P		FXR1		SNV							ENST00000491062	protein_coding			PROSITE_profiles:PS50084,hmmpanther:PTHR10603,hmmpanther:PTHR10603:SF6,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		P		A		1365/8711				C9JZE0_HUMAN,C9JY20_HUMAN,C9J5B4_HUMAN,C9IZ22_HUMAN			YES	FXR1,synonymous_variant,p.=,ENST00000357559,NM_001013438.2,NM_005087.3;FXR1,synonymous_variant,p.=,ENST00000305586,NM_001013439.2;FXR1,synonymous_variant,p.=,ENST00000445140,;FXR1,synonymous_variant,p.=,ENST00000480918,;FXR1,synonymous_variant,p.=,ENST00000468861,;FXR1,synonymous_variant,p.=,ENST00000491062,;FXR1,non_coding_transcript_exon_variant,,ENST00000475315,;FXR1,non_coding_transcript_exon_variant,,ENST00000472339,;FXR1,non_coding_transcript_exon_variant,,ENST00000476672,;FXR1,non_coding_transcript_exon_variant,,ENST00000498658,;FXR1,non_coding_transcript_exon_variant,,ENST00000461044,;FXR1,downstream_gene_variant,,ENST00000473375,;							LOW	981/1866		FXR1_HUMAN			Transcript			.	ENSP00000350170		CCDS3238.1			1	
APH1B	0	LGGM	GRCh37	15	63597899	63597899	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	55	5	.	.	ENST00000261879.5:c.693G>T	p.Ala231=	p.A231=	ENST00000261879	NM_031301.3	231	gcG/gcT	0	1	1	UPI000004222D	0		ENST00000261879		ENSG00000138613	24080		60			HGNC	p.G189W		APH1B		SNV							ENST00000560353	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12889,hmmpanther:PTHR12889:SF1,Pfam_domain:PF06105		A		T		763/4189				H0YKZ9_HUMAN			YES	APH1B,missense_variant,p.Gly189Trp,ENST00000560353,;APH1B,synonymous_variant,p.=,ENST00000261879,NM_031301.3,NM_001145646.1;APH1B,synonymous_variant,p.=,ENST00000560890,;APH1B,synonymous_variant,p.=,ENST00000380343,;APH1B,splice_region_variant,,ENST00000559823,;APH1B,non_coding_transcript_exon_variant,,ENST00000560716,;APH1B,3_prime_UTR_variant,,ENST00000559971,;APH1B,3_prime_UTR_variant,,ENST00000380340,;APH1B,downstream_gene_variant,,ENST00000558631,;							LOW	693/774		APH1B_HUMAN			Transcript			.	ENSP00000261879		CCDS10184.1			1	
ZCCHC4	0	LGGM	GRCh37	4	25316964	25316964	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	70	5	.	.	ENST00000302874.4:c.271C>A	p.Arg91=	p.R91=	ENST00000302874	NM_024936.2	91	Cga/Aga	0	1	1	UPI0000251F28	0		ENST00000302874		ENSG00000168228	22917		75			HGNC	p.R91R		ZCCHC4		SNV							ENST00000507760	protein_coding			hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2		R		A		295/2785							YES	ZCCHC4,synonymous_variant,p.=,ENST00000302874,NM_024936.2;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,;ZCCHC4,synonymous_variant,p.=,ENST00000507760,;							LOW	271/1542		ZCHC4_HUMAN			Transcript			.	ENSP00000303468		CCDS43218.1			1	
GPR98	0	LGGM	GRCh37	5	89949216	89949216	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	5	.	.	ENST00000405460.2:c.3825G>T	p.Gln1275His	p.Q1275H	ENST00000405460	NM_032119.3	1275	caG/caT	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		83	2.38		HGNC	p.Q1275H		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89949216,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		Q/H		T	medium	3921/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1094&re=1293&var=Q1275H					YES	GPR98,missense_variant,p.Gln1275His,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Gln864His,ENST00000504142,;							MODERATE	3825/18921	Q1275H	GPR98_HUMAN			Transcript		benign(0.069)	.	ENSP00000384582		CCDS47246.1			1	
PLXDC2	0	LGGM	GRCh37	10	20465989	20465989	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	90	5	.	.	ENST00000377252.4:c.945C>A	p.Thr315=	p.T315=	ENST00000377252	NM_032812.7	315	acC/acA	0	1	1	UPI0000048F2C	0		ENST00000377252		ENSG00000120594	21013		95			HGNC	p.T315T		PLXDC2		SNV							ENST00000377252	protein_coding			hmmpanther:PTHR13055,hmmpanther:PTHR13055:SF11		T		A		1786/12468							YES	PLXDC2,synonymous_variant,p.=,ENST00000377252,NM_032812.7;PLXDC2,synonymous_variant,p.=,ENST00000377242,NM_001282736.1;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;							LOW	945/1590		PXDC2_HUMAN			Transcript			.	ENSP00000366460		CCDS7132.1			1	
RFX8	0	LGGM	GRCh37	2	102027150	102027150	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	55	5	.	.	ENST00000428343.1:c.744G>T	p.Leu248=	p.L248=	ENST00000428343	NM_001145664.1	248	ctG/ctT	0	1	1	UPI0001AE76D5	0		ENST00000428343		ENSG00000196460	37253		60			HGNC	p.L248L		RFX8		SNV							ENST00000428343	protein_coding			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF19		L		A		864/1686							YES	RFX8,synonymous_variant,p.=,ENST00000376826,;RFX8,synonymous_variant,p.=,ENST00000428343,NM_001145664.1;RFX8,3_prime_UTR_variant,,ENST00000481179,;							LOW	744/1422		RFX8_HUMAN			Transcript			.	ENSP00000401536		CCDS46376.1			1	
TRIM23	0	LGGM	GRCh37	5	64890396	64890396	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	119	5	.	.	ENST00000231524.9:c.1497G>T	p.Thr499=	p.T499=	ENST00000231524	NM_001656.3	499	acG/acT	0	1	1	UPI0000125DB3	0		ENST00000231524		ENSG00000113595	660		124			HGNC	p.T499T		TRIM23		SNV							ENST00000231524	protein_coding			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,TIGRFAM_domain:TIGR00231		T		A		1869/4186				D6R9E9_HUMAN			YES	TRIM23,synonymous_variant,p.=,ENST00000231524,NM_001656.3;TRIM23,synonymous_variant,p.=,ENST00000381018,NM_033227.2;TRIM23,synonymous_variant,p.=,ENST00000274327,NM_033228.2;							LOW	1497/1725		TRI23_HUMAN			Transcript			.	ENSP00000231524		CCDS3987.1			1	
SLC30A6	0	LGGM	GRCh37	2	32419001	32419001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	58	5	.	.	ENST00000379343.2:c.565C>A	p.Leu189Met	p.L189M	ENST00000379343	NM_001193513.1	189	Ctg/Atg	0	1		UPI0000050F43	0	NA	ENST00000282587		ENSG00000152683	19305		63	2.015		HGNC	p.L149M	COSM3743773	SLC30A6		SNV						1	ENST00000282587	protein_coding	getma.org/?cm=var&var=hg19,2,32419001,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF27,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Pfam_domain:PF01545,Superfamily_domains:0054606		L/M		A	medium	482/5089		getma.org/?cm=msa&ty=f&p=ZNT6_HUMAN&rb=34&re=336&var=L149M	deleterious(0.02)	B5MCR8_HUMAN,B3KU87_HUMAN				SLC30A6,missense_variant,p.Leu149Met,ENST00000282587,NM_017964.3;SLC30A6,missense_variant,p.Leu75Met,ENST00000406369,;SLC30A6,missense_variant,p.Leu149Met,ENST00000435660,NM_001193514.1;SLC30A6,missense_variant,p.Leu189Met,ENST00000379343,NM_001193513.1;SLC30A6,missense_variant,p.Leu120Met,ENST00000538303,NM_001193515.1;SLC30A6,missense_variant,p.Leu120Met,ENST00000440718,;SLC30A6,5_prime_UTR_variant,,ENST00000357055,;SLC30A6,3_prime_UTR_variant,,ENST00000454324,;SLC30A6,3_prime_UTR_variant,,ENST00000449777,;SLC30A6,downstream_gene_variant,,ENST00000457724,;					1		MODERATE	445/1386	L149M	ZNT6_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000282587		CCDS1780.1			1	
SPOP	0	LGGM	GRCh37	17	47684669	47684669	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	91	5	.	.	ENST00000347630.2:c.780G>T	p.Thr260=	p.T260=	ENST00000347630	NM_001007230.1	260	acG/acT	0	1		UPI0000003F5C	0		ENST00000347630		ENSG00000121067	11254		96			HGNC	p.T260T		SPOP		SNV							ENST00000509079	protein_coding			PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		T		A		1128/2965				D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN				SPOP,synonymous_variant,p.=,ENST00000393331,NM_001007227.1,NM_001007226.1;SPOP,synonymous_variant,p.=,ENST00000393328,NM_003563.3;SPOP,synonymous_variant,p.=,ENST00000347630,NM_001007230.1,NM_001007229.1;SPOP,synonymous_variant,p.=,ENST00000503676,;SPOP,synonymous_variant,p.=,ENST00000504102,NM_001007228.1;SPOP,synonymous_variant,p.=,ENST00000509079,;SPOP,downstream_gene_variant,,ENST00000505581,;SPOP,downstream_gene_variant,,ENST00000507970,;SPOP,3_prime_UTR_variant,,ENST00000509869,;SPOP,non_coding_transcript_exon_variant,,ENST00000504889,;SPOP,upstream_gene_variant,,ENST00000507551,;SPOP,downstream_gene_variant,,ENST00000506399,;							LOW	780/1125		SPOP_HUMAN			Transcript			.	ENSP00000240327		CCDS11551.1			1	
PGAM4	0	LGGM	GRCh37	X	77224636	77224636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	5	.	.	ENST00000458128.1:c.500G>T	p.Trp167Leu	p.W167L	ENST00000458128	NM_001029891.2	167	tGg/tTg	0	1	1	UPI0000131CD2	0	getma.org/pdb.php?prot=PGAM4_HUMAN&from=5&to=193&var=W167L	ENST00000458128		ENSG00000226784	21731		44	1.9		HGNC	p.W167L		PGAM4		SNV							ENST00000458128	protein_coding	getma.org/?cm=var&var=hg19,X,77224636,C,A&fts=all		Superfamily_domains:SSF53254,SMART_domains:SM00855,TIGRFAM_domain:TIGR01258,Gene3D:3.40.50.1240,Pfam_domain:PF00300,hmmpanther:PTHR11931,hmmpanther:PTHR11931:SF10,HAMAP:MF_01039		W/L		A	low	500/1678		getma.org/?cm=msa&ty=f&p=PGAM4_HUMAN&rb=5&re=193&var=W167L	deleterious(0.01)	O00228_HUMAN			YES	PGAM4,missense_variant,p.Trp167Leu,ENST00000458128,NM_001029891.2;ATP7A,intron_variant,,ENST00000341514,NM_000052.5;ATP7A,intron_variant,,ENST00000343533,;ATP7A,intron_variant,,ENST00000350425,;RP5-1000K24.2,downstream_gene_variant,,ENST00000602791,;							MODERATE	500/765	W167L	PGAM4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412189		CCDS35338.1			1	
RAPGEF2	0	LGGM	GRCh37	4	160251115	160251115	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	50	5	.	.	ENST00000264431.4:c.772C>A	p.Arg258=	p.R258=	ENST00000264431	NM_014247.2	258	Cga/Aga	0	1	1	UPI0000033783	0		ENST00000264431		ENSG00000109756	16854		55			HGNC	p.R258R		RAPGEF2		SNV							ENST00000264431	protein_coding			hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202,Gene3D:2ii0A01,Superfamily_domains:0041591		R		A		1191/6949				Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN			YES	RAPGEF2,synonymous_variant,p.=,ENST00000264431,NM_014247.2;RAPGEF2,upstream_gene_variant,,ENST00000512056,;RAPGEF2,non_coding_transcript_exon_variant,,ENST00000513816,;							LOW	772/4500		RPGF2_HUMAN			Transcript			.	ENSP00000264431		CCDS43277.1			1	
CYP27B1	0	LGGM	GRCh37	12	58160630	58160630	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	29	5	.	.	ENST00000228606.4:c.195G>T	p.Gln65His	p.Q65H	ENST00000228606	NM_000785.3	65	caG/caT	0	1	1	UPI000000D77F	0	getma.org/pdb.php?prot=CP27B_HUMAN&from=41&to=505&var=Q65H	ENST00000228606		ENSG00000111012	2606		34	1.28		HGNC	p.Q65H		CYP27B1		SNV			1				ENST00000228606	protein_coding	getma.org/?cm=var&var=hg19,12,58160630,C,A&fts=all		hmmpanther:PTHR24291,hmmpanther:PTHR24291:SF3,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		Q/H		A	low	405/2540		getma.org/?cm=msa&ty=f&p=CP27B_HUMAN&rb=41&re=505&var=Q65H	deleterious(0)	Q9UP42_HUMAN,Q548T3_HUMAN,F8VWR7_HUMAN			YES	CYP27B1,missense_variant,p.Gln65His,ENST00000228606,NM_000785.3;CYP27B1,intron_variant,,ENST00000546609,;METTL1,downstream_gene_variant,,ENST00000324871,NM_005371.5;METTL1,downstream_gene_variant,,ENST00000257848,NM_023033.3;CYP27B1,upstream_gene_variant,,ENST00000546567,;METTL1,downstream_gene_variant,,ENST00000547653,;METTL21B,upstream_gene_variant,,ENST00000548256,;METTL1,downstream_gene_variant,,ENST00000548504,;METTL1,downstream_gene_variant,,ENST00000548681,;CYP27B1,upstream_gene_variant,,ENST00000546496,;CYP27B1,splice_region_variant,,ENST00000547344,;CYP27B1,upstream_gene_variant,,ENST00000547451,;METTL1,downstream_gene_variant,,ENST00000553125,;METTL1,downstream_gene_variant,,ENST00000549773,;CYP27B1,upstream_gene_variant,,ENST00000552186,;METTL1,downstream_gene_variant,,ENST00000551117,;							MODERATE	195/1527	Q65H	CP27B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000228606		CCDS8954.1			1	
ZNF184	0	LGGM	GRCh37	6	27419258	27419258	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	84	5	.	.	ENST00000211936.6:c.2080G>T	p.Gly694Ter	p.G694*	ENST00000211936	NM_007149.2	694	Gga/Tga	0	1	1	UPI000013C311	0	NA	ENST00000211936		ENSG00000096654	12975		89	0		HGNC	p.G694X		ZNF184		SNV							ENST00000377419	protein_coding	getma.org/?cm=var&var=hg19,6,27419258,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF108,hmmpanther:PTHR24375,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/*		A	NA	2365/3101		NA					YES	ZNF184,stop_gained,p.Gly694Ter,ENST00000211936,NM_007149.2;ZNF184,stop_gained,p.Gly694Ter,ENST00000377419,;							HIGH	2080/2256	G694*	ZN184_HUMAN			Transcript			.	ENSP00000211936		CCDS4624.1			1	
TDRD5	0	LGGM	GRCh37	1	179609135	179609135	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	87	5	.	.	ENST00000444136.1:c.1682C>A	p.Pro561Gln	p.P561Q	ENST00000444136	NM_001199089.1	561	cCa/cAa	0	1		UPI00001C0E0A	0	getma.org/pdb.php?prot=TDRD5_HUMAN&from=468&to=595&var=P561Q	ENST00000294848		ENSG00000162782	20614		92	1.15		HGNC	p.P561Q		TDRD5		SNV							ENST00000294848	protein_coding	getma.org/?cm=var&var=hg19,1,179609135,C,A&fts=all		Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,SMART_domains:SM00333,Superfamily_domains:SSF63748		P/Q		A	low	1932/3525		getma.org/?cm=msa&ty=f&p=TDRD5_HUMAN&rb=468&re=595&var=P561Q	deleterious(0.02)					TDRD5,missense_variant,p.Pro561Gln,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,missense_variant,p.Pro561Gln,ENST00000367614,NM_001199091.1;TDRD5,missense_variant,p.Pro561Gln,ENST00000294848,NM_173533.3,NM_001199092.1;TDRD5,missense_variant,p.Pro17Gln,ENST00000417329,;							MODERATE	1682/2946	P561Q	TDRD5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000294848		CCDS1332.1			1	
DMXL1	0	LGGM	GRCh37	5	118506212	118506212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	82	5	.	.	ENST00000311085.8:c.5726C>A	p.Pro1909Gln	p.P1909Q	ENST00000311085	NM_005509.4	1909	cCa/cAa	0	1	1	UPI000013F0EC	0	NA	ENST00000311085		ENSG00000172869	2937		87	1.5		HGNC	p.P1909Q		DMXL1		SNV							ENST00000311085	protein_coding	getma.org/?cm=var&var=hg19,5,118506212,C,A&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12		P/Q		A	low	5806/11072		getma.org/?cm=msa&ty=f&p=DMXL1_HUMAN&rb=1877&re=2076&var=P1909Q	tolerated(0.13)	F1T0K4_HUMAN,E7EMZ0_HUMAN			YES	DMXL1,missense_variant,p.Pro1909Gln,ENST00000311085,NM_005509.4;DMXL1,missense_variant,p.Pro1909Gln,ENST00000539542,;DMXL1,non_coding_transcript_exon_variant,,ENST00000504497,;DMXL1,upstream_gene_variant,,ENST00000507552,;							MODERATE	5726/9084	P1909Q	DMXL1_HUMAN			Transcript		benign(0.183)	.	ENSP00000309690		CCDS4125.1			1	
UGT1A8	0	LGGM	GRCh37	2	234526827	234526827	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	80	5	.	.	ENST00000373450.4:c.474C>A	p.Ala158=	p.A158=	ENST00000373450	NM_019076.4	158	gcC/gcA	0	1	1	UPI0000072F75	0		ENST00000373450		ENSG00000241635	12540		85			HGNC	p.A158A		UGT1A8		SNV			1				ENST00000373450	protein_coding			Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF138,hmmpanther:PTHR11926		A		A		537/2407				Q5DSZ6_HUMAN				UGT1A8,synonymous_variant,p.=,ENST00000373450,NM_019076.4;							LOW	474/1593		UD18_HUMAN			Transcript			.	ENSP00000362549		CCDS33402.1			1	
CCDC36	0	LGGM	GRCh37	3	49294554	49294554	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	5	.	.	ENST00000438782.1:c.1624C>A	p.Gln542Lys	p.Q542K	ENST00000438782		542	Caa/Aaa	0	1		UPI0000209CD2	0	NA	ENST00000296449		ENSG00000173421	27945		48	0.805		HGNC	p.Q542K		CCDC36		SNV							ENST00000452691	protein_coding	getma.org/?cm=var&var=hg19,3,49294554,C,A&fts=all		Low_complexity_(Seg):seg		Q/K		A	low	2011/2613		getma.org/?cm=msa&ty=f&p=CCD36_HUMAN&rb=263&re=592&var=Q542K	tolerated(0.33)					CCDC36,missense_variant,p.Gln542Lys,ENST00000438782,;CCDC36,missense_variant,p.Gln542Lys,ENST00000296449,NM_178173.3;CCDC36,missense_variant,p.Gln542Lys,ENST00000452691,NM_001135197.1;RP11-3B7.1,upstream_gene_variant,,ENST00000440528,;RP11-3B7.7,upstream_gene_variant,,ENST00000604776,;							MODERATE	1624/1785	Q542K	CCD36_HUMAN			Transcript		benign(0.023)	.	ENSP00000296449		CCDS33755.2			1	
MUM1L1	0	LGGM	GRCh37	X	105451165	105451165	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	5	.	.	ENST00000337685.2:c.1740C>A	p.Ser580=	p.S580=	ENST00000337685	NM_152423.4	580	tcC/tcA	0	1	1	UPI0000212206	0		ENST00000337685		ENSG00000157502	26583		77			HGNC	p.S580S		MUM1L1		SNV							ENST00000337685	protein_coding			hmmpanther:PTHR31333,hmmpanther:PTHR31333:SF3		S		A		2525/4308							YES	MUM1L1,synonymous_variant,p.=,ENST00000337685,NM_152423.4;MUM1L1,synonymous_variant,p.=,ENST00000357175,NM_001171020.1;MUM1L1,synonymous_variant,p.=,ENST00000372552,;							LOW	1740/2091		MUML1_HUMAN			Transcript			.	ENSP00000338641		CCDS55469.1			1	
GPR98	0	LGGM	GRCh37	5	90020799	90020799	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	84	5	.	.	ENST00000405460.2:c.9899C>A	p.Pro3300Gln	p.P3300Q	ENST00000405460	NM_032119.3	3300	cCa/cAa	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		89	2.045		HGNC	p.P3300Q		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90020799,C,A&fts=all		PROSITE_profiles:PS50912,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		P/Q		A	medium	9995/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=3249&re=3393&var=P3300Q					YES	GPR98,missense_variant,p.Pro3300Gln,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Pro866Gln,ENST00000509621,;							MODERATE	9899/18921	P3300Q	GPR98_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000384582		CCDS47246.1			1	
KIAA0408	0	LGGM	GRCh37	6	127768367	127768367	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	5	.	.	ENST00000483725.3:c.1097G>T	p.Gly366Val	p.G366V	ENST00000483725	NM_014702.4	366	gGg/gTg	0	1	1	UPI00001C0BD7	0	NA	ENST00000483725		ENSG00000189367	21636		36	1.355		HGNC	p.G366V		KIAA0408		SNV							ENST00000483725	protein_coding	getma.org/?cm=var&var=hg19,6,127768367,C,A&fts=all		hmmpanther:PTHR15705		G/V		A	low	1434/3284		getma.org/?cm=msa&ty=f&p=K0408_HUMAN&rb=1&re=691&var=G366V	tolerated(0.17)				YES	KIAA0408,missense_variant,p.Gly366Val,ENST00000483725,NM_014702.4;SOGA3,3_prime_UTR_variant,,ENST00000556132,NM_001012279.2;SOGA3,downstream_gene_variant,,ENST00000368268,;KIAA0408,upstream_gene_variant,,ENST00000465254,;KIAA0408,downstream_gene_variant,,ENST00000487331,;SOGA3,3_prime_UTR_variant,,ENST00000481848,;SOGA3,3_prime_UTR_variant,,ENST00000473298,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000368281,;SOGA3,downstream_gene_variant,,ENST00000464495,;KIAA0408,downstream_gene_variant,,ENST00000472335,;							MODERATE	1097/2085	G366V	K0408_HUMAN			Transcript		benign(0.015)	.	ENSP00000435150		CCDS34531.1			1	
SMARCE1	0	LGGM	GRCh37	17	38792691	38792691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	76	5	.	.	ENST00000348513.6:c.325G>T	p.Asp109Tyr	p.D109Y	ENST00000348513	NM_003079.4	109	Gat/Tat	0	1	1	UPI000006FB55	0	getma.org/pdb.php?prot=SMCE1_HUMAN&from=66&to=134&var=D109Y	ENST00000348513		ENSG00000073584	11109		81	3.03		HGNC	p.D109Y		SMARCE1		SNV			1				ENST00000348513	protein_coding	getma.org/?cm=var&var=hg19,17,38792691,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF47095,SMART_domains:SM00398,Gene3D:1.10.30.10,Pfam_domain:PF00505,hmmpanther:PTHR13711:SF150,hmmpanther:PTHR13711,PROSITE_profiles:PS50118		D/Y		A	medium	1106/5840		getma.org/?cm=msa&ty=f&p=SMCE1_HUMAN&rb=66&re=134&var=D109Y	deleterious(0)	J3QR61_HUMAN,J3QKX6_HUMAN,J3KT85_HUMAN,C0IMW8_HUMAN,B4DGM3_HUMAN			YES	SMARCE1,missense_variant,p.Asp109Tyr,ENST00000348513,NM_003079.4;SMARCE1,missense_variant,p.Asp39Tyr,ENST00000544009,;SMARCE1,missense_variant,p.Asp91Tyr,ENST00000431889,;SMARCE1,missense_variant,p.Asp74Tyr,ENST00000377808,;SMARCE1,missense_variant,p.Asp39Tyr,ENST00000400122,;SMARCE1,missense_variant,p.Asp74Tyr,ENST00000580419,;SMARCE1,missense_variant,p.Asp39Tyr,ENST00000578044,;SMARCE1,missense_variant,p.Asp93Tyr,ENST00000478349,;SMARCE1,missense_variant,p.Asp109Tyr,ENST00000582955,;SMARCE1,missense_variant,p.Asp91Tyr,ENST00000580654,;SMARCE1,missense_variant,p.Asp39Tyr,ENST00000577721,;SMARCE1,downstream_gene_variant,,ENST00000474246,;SMARCE1,upstream_gene_variant,,ENST00000264640,;SMARCE1,upstream_gene_variant,,ENST00000447024,;KRT222,3_prime_UTR_variant,,ENST00000476049,;SMARCE1,3_prime_UTR_variant,,ENST00000578112,;SMARCE1,3_prime_UTR_variant,,ENST00000481231,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000493660,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000469334,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000578995,;SMARCE1,non_coding_transcript_exon_variant,,ENST00000583294,;							MODERATE	325/1236	D109Y	SMCE1_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000323967		CCDS11370.1			1	
ACSS1	0	LGGM	GRCh37	20	24993479	24993479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	5	.	.	ENST00000323482.4:c.1676G>T	p.Arg559Leu	p.R559L	ENST00000323482	NM_001252675.1	559	cGg/cTg	0	1	1	UPI00001615FE	0	getma.org/pdb.php?prot=ACS2L_HUMAN&from=142&to=580&var=R559L	ENST00000323482		ENSG00000154930	16091		45	2.655		HGNC	p.R438L		ACSS1		SNV							ENST00000542618	protein_coding	getma.org/?cm=var&var=hg19,20,24993479,C,A&fts=all		Gene3D:3.30.300.30,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF110,Superfamily_domains:SSF56801,TIGRFAM_domain:TIGR02188		R/L		A	medium	1756/3680		getma.org/?cm=msa&ty=f&p=ACS2L_HUMAN&rb=142&re=580&var=R559L	deleterious(0)	Q658R1_HUMAN			YES	ACSS1,missense_variant,p.Arg476Leu,ENST00000537502,;ACSS1,missense_variant,p.Arg559Leu,ENST00000323482,NM_001252675.1,NM_032501.3;ACSS1,missense_variant,p.Arg438Leu,ENST00000542618,NM_001252676.1;ACSS1,intron_variant,,ENST00000432802,NM_001252677.1;ACSS1,upstream_gene_variant,,ENST00000484396,;							MODERATE	1676/2070	R559L	ACS2L_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000316924		CCDS13167.1			1	
FABP12	0	LGGM	GRCh37	8	82439305	82439305	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	68	5	.	.	ENST00000360464.4:c.298G>T	p.Gly100Cys	p.G100C	ENST00000360464	NM_001105281.1	100	Ggc/Tgc	0	1	1	UPI00001B2E3D	0	getma.org/pdb.php?prot=FBP12_HUMAN&from=6&to=132&var=G100C	ENST00000360464		ENSG00000197416	34524		73	3.485		HGNC	p.G100C		FABP12		SNV							ENST00000360464	protein_coding	getma.org/?cm=var&var=hg19,8,82439305,C,A&fts=all		Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF76,Superfamily_domains:SSF50814		G/C		A	medium	361/551		getma.org/?cm=msa&ty=f&p=FBP12_HUMAN&rb=6&re=132&var=G100C	deleterious(0)				YES	FABP12,missense_variant,p.Gly100Cys,ENST00000360464,NM_001105281.1;RP11-257P3.3,intron_variant,,ENST00000523380,;RP11-257P3.3,downstream_gene_variant,,ENST00000518637,;FABP12,3_prime_UTR_variant,,ENST00000519696,;FTH1P11,upstream_gene_variant,,ENST00000517577,;							MODERATE	298/423	G100C	FBP12_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000353650		CCDS47882.1			1	
GARIN3	0	LGGM	GRCh37	5	156592698	156592698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	68	5	.	.	ENST00000302938.4:c.482G>T	p.Arg161Leu	p.R161L	ENST00000302938	NM_130899.2	161	cGg/cTg	0	1	1	UPI000006F9DC	0	NA	ENST00000302938		ENSG00000170613	28397		73	1.92		HGNC	p.R161L	COSM591116	FAM71B		SNV						1	ENST00000302938	protein_coding	getma.org/?cm=var&var=hg19,5,156592698,C,A&fts=all		Pfam_domain:PF12480,hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2		R/L		A	medium	578/2515		getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=112&re=188&var=R161L	deleterious(0)				YES	FAM71B,missense_variant,p.Arg161Leu,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;					1		MODERATE	482/1818	R161L	FA71B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000305596		CCDS4335.1			1	
SEL1L3	0	LGGM	GRCh37	4	25823745	25823745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	64	5	.	.	ENST00000399878.3:c.1163G>T	p.Arg388Leu	p.R388L	ENST00000399878	NM_015187.3	388	cGg/cTg	0	1	1	UPI00001D7736	0	NA	ENST00000399878		ENSG00000091490	29108		69	1.61		HGNC	p.R388L		SEL1L3		SNV							ENST00000399878	protein_coding	getma.org/?cm=var&var=hg19,4,25823745,C,A&fts=all		hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF58,Superfamily_domains:SSF49899		R/L		A	low	1286/4514		getma.org/?cm=msa&ty=f&p=SE1L3_HUMAN&rb=201&re=400&var=R388L	tolerated(0.34)	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN			YES	SEL1L3,missense_variant,p.Arg388Leu,ENST00000399878,NM_015187.3;SEL1L3,missense_variant,p.Arg353Leu,ENST00000264868,;SEL1L3,missense_variant,p.Arg235Leu,ENST00000502949,;							MODERATE	1163/3399	R388L	SE1L3_HUMAN			Transcript		benign(0.002)	.	ENSP00000382767		CCDS47037.1			1	
AGXT2	0	LGGM	GRCh37	5	34998906	34998906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	5	.	.	ENST00000231420.6:c.1463G>T	p.Cys488Phe	p.C488F	ENST00000231420	NM_031900.3	488	tGc/tTc	0	1	1	UPI0000125709	0	NA	ENST00000231420		ENSG00000113492	14412		28	3.07		HGNC	p.C488F		AGXT2		SNV							ENST00000231420	protein_coding	getma.org/?cm=var&var=hg19,5,34998906,C,A&fts=all		Superfamily_domains:SSF53383,PIRSF_domain:PIRSF000521,Gene3D:3.90.1150.10,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF58		C/F		A	medium	1664/2364		getma.org/?cm=msa&ty=f&p=AGT2_HUMAN&rb=445&re=514&var=C488F	deleterious(0)				YES	AGXT2,missense_variant,p.Cys488Phe,ENST00000231420,NM_031900.3;AGXT2,missense_variant,p.Cys413Phe,ENST00000510428,;AGXT2,non_coding_transcript_exon_variant,,ENST00000512135,;							MODERATE	1463/1545	C488F	AGT2_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000231420		CCDS3908.1			1	
POLR1A	0	LGGM	GRCh37	2	86266580	86266580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	76	5	.	.	ENST00000263857.6:c.3746G>T	p.Arg1249Leu	p.R1249L	ENST00000263857		1249	cGg/cTg	0	1	1	UPI0000D7DB86	0	getma.org/pdb.php?prot=RPA1_HUMAN&from=958&to=1672&var=R1249L	ENST00000263857		ENSG00000068654	17264		81	3.545		HGNC	p.R1249L		POLR1A		SNV			1				ENST00000409681	protein_coding	getma.org/?cm=var&var=hg19,2,86266580,C,A&fts=all		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484		R/L		A	high	4125/12749		getma.org/?cm=msa&ty=f&p=RPA1_HUMAN&rb=958&re=1672&var=R1249L	deleterious(0)	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN			YES	POLR1A,missense_variant,p.Arg1249Leu,ENST00000263857,;POLR1A,missense_variant,p.Arg1249Leu,ENST00000409681,NM_015425.3;POLR1A,non_coding_transcript_exon_variant,,ENST00000462078,;POLR1A,upstream_gene_variant,,ENST00000492034,;POLR1A,upstream_gene_variant,,ENST00000496892,;							MODERATE	3746/5163	R1249L	RPA1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000263857		CCDS42706.1			1	
ARHGAP9	0	LGGM	GRCh37	12	57868454	57868454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	69	5	.	.	ENST00000393791.3:c.1684G>T	p.Gly562Trp	p.G562W	ENST00000393791	NM_032496.2	562	Ggg/Tgg	0	1	1	UPI000007131B	0	getma.org/pdb.php?prot=RHG09_HUMAN&from=556&to=726&var=G581W	ENST00000393791		ENSG00000123329	14130		74	3.74		HGNC	p.G562W		ARHGAP9		SNV							ENST00000424809	protein_coding	getma.org/?cm=var&var=hg19,12,57868454,C,A&fts=all		PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		G/W		A	high	1823/2597		getma.org/?cm=msa&ty=f&p=RHG09_HUMAN&rb=556&re=726&var=G581W	deleterious(0)	F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN			YES	ARHGAP9,missense_variant,p.Gly652Trp,ENST00000393797,;ARHGAP9,missense_variant,p.Gly641Trp,ENST00000550288,;ARHGAP9,missense_variant,p.Gly581Trp,ENST00000356411,;ARHGAP9,missense_variant,p.Gly562Trp,ENST00000393791,NM_032496.2;ARHGAP9,missense_variant,p.Gly562Trp,ENST00000424809,NM_001080157.1;ARHGAP9,missense_variant,p.Gly378Trp,ENST00000430041,NM_001080156.1;ARHGAP9,missense_variant,p.Gly32Trp,ENST00000550399,;ARHGAP9,missense_variant,p.Gly69Trp,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,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552953,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550440,;ARHGAP9,non_coding_transcript_exon_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,;							MODERATE	1684/2196	G581W	RHG09_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377380		CCDS8941.2			1	
ADAMTS1	0	LGGM	GRCh37	21	28210593	28210593	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	38	5	.	.	ENST00000284984.3:c.2209G>T	p.Gly737Ter	p.G737*	ENST00000284984	NM_006988.3	737	Gga/Tga	0	1	1	UPI000013DDC6	0	NA	ENST00000284984		ENSG00000154734	217		43	0		HGNC	p.G737X		ADAMTS1		SNV							ENST00000284984	protein_coding	getma.org/?cm=var&var=hg19,21,28210593,C,A&fts=all		hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986		G/*		A	NA	2664/5191		NA		E5RI60_HUMAN			YES	ADAMTS1,stop_gained,p.Gly737Ter,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,non_coding_transcript_exon_variant,,ENST00000492656,;							HIGH	2209/2904	G737*	ATS1_HUMAN			Transcript			.	ENSP00000284984		CCDS33524.1			1	
CBL	0	LGGM	GRCh37	11	119170274	119170274	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	69	5	.	.	ENST00000264033.4:c.2504G>T	p.Arg835Leu	p.R835L	ENST00000264033	NM_005188.3	835	cGg/cTg	0	1	1	UPI000013D4A7	0	NA	ENST00000264033		ENSG00000110395	1541		74	0.895		HGNC	p.R835L		CBL		SNV			1				ENST00000264033	protein_coding	getma.org/?cm=var&var=hg19,11,119170274,G,T&fts=all		hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5		R/L		T	low	2880/11465		getma.org/?cm=msa&ty=f&p=CBL_HUMAN&rb=820&re=856&var=R835L	deleterious_low_confidence(0.03)				YES	CBL,missense_variant,p.Arg835Leu,ENST00000264033,NM_005188.3;							MODERATE	2504/2721	R835L	CBL_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000264033		CCDS8418.1			1	
KIAA0556	0	LGGM	GRCh37	16	27692828	27692828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	69	5	.	.	ENST00000261588.4:c.917C>A	p.Pro306Gln	p.P306Q	ENST00000261588	NM_015202.2	306	cCa/cAa	0	1	1	UPI000045693C	0	NA	ENST00000261588		ENSG00000047578	29068		74	2.075		HGNC	p.P306Q		KIAA0556		SNV							ENST00000261588	protein_coding	getma.org/?cm=var&var=hg19,16,27692828,C,A&fts=all		hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0		P/Q		A	medium	936/6616		getma.org/?cm=msa&ty=f&p=K0556_HUMAN&rb=1&re=409&var=P306Q	tolerated(0.4)	B4DHT8_HUMAN			YES	KIAA0556,missense_variant,p.Pro306Gln,ENST00000261588,NM_015202.2;KIAA0556,downstream_gene_variant,,ENST00000568258,;CTD-2049O4.1,intron_variant,,ENST00000564893,;KIAA0556,non_coding_transcript_exon_variant,,ENST00000567894,;KIAA0556,downstream_gene_variant,,ENST00000565672,;							MODERATE	917/4857	P306Q	K0556_HUMAN			Transcript		benign(0.085)	.	ENSP00000261588		CCDS32415.1			1	
ANKRD6	0	LGGM	GRCh37	6	90333611	90333611	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	5	.	.	ENST00000522441.1:c.1053C>A	p.Pro351=	p.P351=	ENST00000522441	NM_001242811.1	351	ccC/ccA	0	1		UPI000020D325	0		ENST00000339746		ENSG00000135299	17280		18			HGNC	p.P351P		ANKRD6		SNV							ENST00000339746	protein_coding			hmmpanther:PTHR24203,hmmpanther:PTHR24203:SF0		P		A		1363/3073				E5RJR9_HUMAN,E5RJ45_HUMAN,E5RIS1_HUMAN,E5RIJ4_HUMAN				ANKRD6,synonymous_variant,p.=,ENST00000369408,NM_001242813.1;ANKRD6,synonymous_variant,p.=,ENST00000522441,NM_001242811.1;ANKRD6,synonymous_variant,p.=,ENST00000339746,NM_001242809.1;ANKRD6,synonymous_variant,p.=,ENST00000447838,NM_014942.4;ANKRD6,synonymous_variant,p.=,ENST00000520793,NM_001242814.1;ANKRD6,synonymous_variant,p.=,ENST00000518150,;LYRM2,intron_variant,,ENST00000520441,;ANKRD6,upstream_gene_variant,,ENST00000521004,;ANKRD6,upstream_gene_variant,,ENST00000492158,;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,;							LOW	1053/2184		ANKR6_HUMAN			Transcript			.	ENSP00000345767		CCDS56441.1			1	
APEH	0	LGGM	GRCh37	3	49720694	49720694	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	87	5	.	.	ENST00000296456.5:c.2118C>A	p.Thr706=	p.T706=	ENST00000296456	NM_001640.3	706	acC/acA	0	1	1	UPI00000735A1	0		ENST00000296456		ENSG00000164062	586		92			HGNC	p.T711T		APEH		SNV							ENST00000438011	protein_coding			Gene3D:3.40.50.1820,Pfam_domain:PF00326,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF108,Superfamily_domains:SSF53474		T		A		2518/3220				C9JLK2_HUMAN			YES	APEH,synonymous_variant,p.=,ENST00000296456,NM_001640.3;APEH,synonymous_variant,p.=,ENST00000438011,;MST1,downstream_gene_variant,,ENST00000449682,NM_020998.3;MST1,downstream_gene_variant,,ENST00000383728,;APEH,downstream_gene_variant,,ENST00000442186,;MST1,downstream_gene_variant,,ENST00000545762,;MST1,downstream_gene_variant,,ENST00000448220,;MST1,downstream_gene_variant,,ENST00000494828,;MST1,downstream_gene_variant,,ENST00000491943,;APEH,non_coding_transcript_exon_variant,,ENST00000480772,;MST1,downstream_gene_variant,,ENST00000488350,;MST1,downstream_gene_variant,,ENST00000479115,;MST1,downstream_gene_variant,,ENST00000492329,;MST1,downstream_gene_variant,,ENST00000497359,;MST1,downstream_gene_variant,,ENST00000484269,;MST1,downstream_gene_variant,,ENST00000492370,;MST1,downstream_gene_variant,,ENST00000484673,;APEH,downstream_gene_variant,,ENST00000482301,;APEH,downstream_gene_variant,,ENST00000447436,;MST1,downstream_gene_variant,,ENST00000493836,;MST1,downstream_gene_variant,,ENST00000484144,;MST1,downstream_gene_variant,,ENST00000494809,;APEH,downstream_gene_variant,,ENST00000446089,;MST1,downstream_gene_variant,,ENST00000498021,;APEH,downstream_gene_variant,,ENST00000469362,;MST1,downstream_gene_variant,,ENST00000490966,;MST1,downstream_gene_variant,,ENST00000489007,;APEH,downstream_gene_variant,,ENST00000447541,;MST1,downstream_gene_variant,,ENST00000480268,;MST1,downstream_gene_variant,,ENST00000481055,;MST1,downstream_gene_variant,,ENST00000481930,;AC099668.5,downstream_gene_variant,,ENST00000563780,;MST1,downstream_gene_variant,,ENST00000468847,;							LOW	2118/2199		ACPH_HUMAN			Transcript			.	ENSP00000296456		CCDS2801.1			1	
RNF8	0	LGGM	GRCh37	6	37348987	37348987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	86	5	.	.	ENST00000373479.4:c.1298G>T	p.Arg433Leu	p.R433L	ENST00000373479	NM_003958.3	433	cGg/cTg	0	1	1	UPI000013437B	0	getma.org/pdb.php?prot=RNF8_HUMAN&from=401&to=443&var=R433L	ENST00000373479		ENSG00000112130	10071		91	1.42		HGNC	p.R433L		RNF8		SNV							ENST00000373479	protein_coding	getma.org/?cm=var&var=hg19,6,37348987,G,T&fts=all		Superfamily_domains:SSF57850,PIRSF_domain:PIRSF037950,SMART_domains:SM00184,Pfam_domain:PF13639,Gene3D:3.30.40.10,hmmpanther:PTHR15067:SF4,hmmpanther:PTHR15067,PROSITE_profiles:PS50089		R/L		T	low	1491/5631		getma.org/?cm=msa&ty=f&p=RNF8_HUMAN&rb=401&re=443&var=R433L	deleterious(0.02)	C9J858_HUMAN			YES	RNF8,missense_variant,p.Arg433Leu,ENST00000373479,NM_003958.3,NM_183078.2;RNF8,intron_variant,,ENST00000469731,;RNF8,intron_variant,,ENST00000498460,;RNF8,3_prime_UTR_variant,,ENST00000229866,;							MODERATE	1298/1458	R433L	RNF8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362578		CCDS4834.1			1	
ROGDI	0	LGGM	GRCh37	16	4847764	4847764	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	17	5	.	.	ENST00000322048.7:c.773T>C	p.Leu258Pro	p.L258P	ENST00000322048	NM_024589.2	258	cTg/cCg	0	1	1	UPI0000037B8E	0	NA	ENST00000322048		ENSG00000067836	29478		22	2.19		HGNC	p.L153P		ROGDI		SNV			1				ENST00000587711	protein_coding	getma.org/?cm=var&var=hg19,16,4847764,A,G&fts=all		Pfam_domain:PF10259,hmmpanther:PTHR13618,hmmpanther:PTHR13618:SF1		L/P		G	medium	1152/1735		getma.org/?cm=msa&ty=f&p=ROGDI_HUMAN&rb=18&re=277&var=L258P	deleterious(0)	D3DUE5_HUMAN			YES	ROGDI,missense_variant,p.Leu258Pro,ENST00000322048,NM_024589.2;ROGDI,missense_variant,p.Leu234Pro,ENST00000591392,;ROGDI,missense_variant,p.Leu153Pro,ENST00000587711,;ROGDI,missense_variant,p.Leu44Pro,ENST00000592019,;ROGDI,synonymous_variant,p.=,ENST00000586504,;ROGDI,3_prime_UTR_variant,,ENST00000586153,;SMIM22,downstream_gene_variant,,ENST00000589721,NM_001253790.1;SMIM22,downstream_gene_variant,,ENST00000589327,NM_001253791.1;SMIM22,downstream_gene_variant,,ENST00000586440,NM_001253794.1;SMIM22,downstream_gene_variant,,ENST00000588500,;SMIM22,downstream_gene_variant,,ENST00000588606,NM_001253793.1;SMIM22,downstream_gene_variant,,ENST00000586005,;SMIM22,downstream_gene_variant,,ENST00000591870,;RP11-127I20.5,upstream_gene_variant,,ENST00000592465,;ROGDI,non_coding_transcript_exon_variant,,ENST00000586336,;ROGDI,3_prime_UTR_variant,,ENST00000588201,;ROGDI,3_prime_UTR_variant,,ENST00000587377,;ROGDI,3_prime_UTR_variant,,ENST00000587843,;ROGDI,non_coding_transcript_exon_variant,,ENST00000591292,;ROGDI,downstream_gene_variant,,ENST00000585871,;ROGDI,downstream_gene_variant,,ENST00000592112,;SMIM22,downstream_gene_variant,,ENST00000591004,;ROGDI,downstream_gene_variant,,ENST00000585653,;ROGDI,downstream_gene_variant,,ENST00000589543,;SMIM22,downstream_gene_variant,,ENST00000588894,;ROGDI,downstream_gene_variant,,ENST00000590198,;							MODERATE	773/864	L258P	ROGDI_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000322832		CCDS10523.1			1	
RTKN2	0	LGGM	GRCh37	10	63957908	63957908	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	62	5	.	.	ENST00000373789.3:c.1589G>T	p.Trp530Leu	p.W530L	ENST00000373789	NM_145307.2	530	tGg/tTg	0	1	1	UPI000007413A	0	NA	ENST00000373789		ENSG00000182010	19364		67	1.795		HGNC	p.W530L		RTKN2		SNV							ENST00000373789	protein_coding	getma.org/?cm=var&var=hg19,10,63957908,C,A&fts=all				W/L		A	low	1686/6641		getma.org/?cm=msa&ty=f&p=RTKN2_HUMAN&rb=393&re=592&var=W530L	tolerated(0.52)				YES	RTKN2,missense_variant,p.Trp530Leu,ENST00000373789,NM_145307.2;RTKN2,intron_variant,,ENST00000315289,;RTKN2,intron_variant,,ENST00000395265,;							MODERATE	1589/1830	W530L	RTKN2_HUMAN			Transcript		benign(0.041)	.	ENSP00000362894		CCDS7263.1			1	
MYOT	0	LGGM	GRCh37	5	137221841	137221841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	5	.	.	ENST00000239926.4:c.1129C>A	p.Pro377Thr	p.P377T	ENST00000239926	NM_006790.2	377	Cca/Aca	0	1	1	UPI000013CA96	0	getma.org/pdb.php?prot=MYOTI_HUMAN&from=349&to=440&var=P377T	ENST00000239926		ENSG00000120729	12399		83	0.455		HGNC	p.P377T		MYOT		SNV			1				ENST00000239926	protein_coding	getma.org/?cm=var&var=hg19,5,137221841,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		P/T		A	neutral	1503/2337		getma.org/?cm=msa&ty=f&p=MYOTI_HUMAN&rb=349&re=440&var=P377T	tolerated(0.5)	B4DT68_HUMAN			YES	MYOT,missense_variant,p.Pro377Thr,ENST00000239926,NM_006790.2;MYOT,missense_variant,p.Pro262Thr,ENST00000515645,;MYOT,missense_variant,p.Pro193Thr,ENST00000421631,NM_001135940.1;PKD2L2,upstream_gene_variant,,ENST00000508638,NM_001258449.1;PKD2L2,upstream_gene_variant,,ENST00000508883,;PKD2L2,upstream_gene_variant,,ENST00000290431,NM_014386.3;PKD2L2,upstream_gene_variant,,ENST00000502810,NM_001258448.1;PKD2L2,upstream_gene_variant,,ENST00000503015,;PKD2L2,upstream_gene_variant,,ENST00000350250,;PKD2L2,upstream_gene_variant,,ENST00000511176,;RP11-381K20.2,intron_variant,,ENST00000508281,;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,downstream_gene_variant,,ENST00000509812,;MYOT,non_coding_transcript_exon_variant,,ENST00000511254,;PKD2L2,upstream_gene_variant,,ENST00000414094,;MYOT,upstream_gene_variant,,ENST00000508938,;MYOT,downstream_gene_variant,,ENST00000503748,;							MODERATE	1129/1497	P377T	MYOTI_HUMAN			Transcript		benign(0.04)	.	ENSP00000239926		CCDS4194.1			1	
APMAP	0	LGGM	GRCh37	20	24950966	24950966	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	82	5	.	.	ENST00000217456.2:c.580G>T	p.Gly194Trp	p.G194W	ENST00000217456	NM_020531.2	194	Ggg/Tgg	0	1	1	UPI0000036D2D	0	NA	ENST00000217456		ENSG00000101474	13238		87	3.785		HGNC	p.G194W		APMAP		SNV							ENST00000447138	protein_coding	getma.org/?cm=var&var=hg19,20,24950966,C,A&fts=all		hmmpanther:PTHR10426:SF26,hmmpanther:PTHR10426,Gene3D:2.120.10.30,Superfamily_domains:SSF63829		G/W		A	high	871/2430		getma.org/?cm=msa&ty=f&p=APMAP_HUMAN&rb=1&re=200&var=G194W	deleterious(0)				YES	APMAP,missense_variant,p.Gly194Trp,ENST00000217456,NM_020531.2;APMAP,missense_variant,p.Gly179Trp,ENST00000451442,;APMAP,missense_variant,p.Gly194Trp,ENST00000447138,;RNU6-1257P,upstream_gene_variant,,ENST00000384625,;							MODERATE	580/1251	G194W	APMAP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000217456		CCDS13166.1			1	
DNAJB4	0	LGGM	GRCh37	1	78479194	78479194	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	47	5	.	.	ENST00000370763.5:c.671C>A	p.Pro224Gln	p.P224Q	ENST00000370763	NM_007034.3	224	cCa/cAa	0	1	1	UPI000000164F	0	getma.org/pdb.php?prot=DNJB4_HUMAN&from=66&to=248&var=P224Q	ENST00000370763		ENSG00000162616	14886		52	2.62		HGNC	p.P224Q		DNAJB4		SNV							ENST00000370763	protein_coding	getma.org/?cm=var&var=hg19,1,78479194,C,A&fts=all		hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF223,Gene3D:2.60.260.20,Superfamily_domains:SSF49493		P/Q		A	medium	928/2988		getma.org/?cm=msa&ty=f&p=DNJB4_HUMAN&rb=66&re=248&var=P224Q	deleterious(0)	C9JUL4_HUMAN,B4DNN2_HUMAN			YES	DNAJB4,missense_variant,p.Pro224Gln,ENST00000370763,NM_007034.3;DNAJB4,downstream_gene_variant,,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,;							MODERATE	671/1014	P224Q	DNJB4_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000359799		CCDS684.1			1	
TLR1	0	LGGM	GRCh37	4	38800068	38800068	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	81	5	.	.	ENST00000308979.2:c.385C>A	p.Leu129Met	p.L129M	ENST00000308979	NM_003263.3	129	Ctg/Atg	0	1	1	UPI000013EDFA	0	getma.org/pdb.php?prot=TLR1_HUMAN&from=127&to=326&var=L129M	ENST00000308979		ENSG00000174125	11847		86	1.715		HGNC	p.L129M		TLR1		SNV			1				ENST00000505940	protein_coding	getma.org/?cm=var&var=hg19,4,38800068,G,T&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF261,Gene3D:3.80.10.10,SMART_domains:SM00369,PIRSF_domain:PIRSF037595,Superfamily_domains:SSF52058		L/M		T	low	659/2847		getma.org/?cm=msa&ty=f&p=TLR1_HUMAN&rb=127&re=326&var=L129M	tolerated(0.17)	Q32MK4_HUMAN,D6RF68_HUMAN,D6RCE8_HUMAN,D6RAP2_HUMAN,D6RA99_HUMAN			YES	TLR1,missense_variant,p.Leu129Met,ENST00000308979,NM_003263.3;TLR1,missense_variant,p.Leu129Met,ENST00000502213,;TLR1,missense_variant,p.Leu129Met,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,;							MODERATE	385/2361	L129M	TLR1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354932		CCDS33973.1			1	
CSMD3	0	LGGM	GRCh37	8	113518920	113518920	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	70	5	.	.	ENST00000297405.5:c.4895G>T	p.Ser1632Ile	p.S1632I	ENST00000297405	NM_198123.1	1632	aGt/aTt	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=1588&to=1693&var=S1632I	ENST00000297405		ENSG00000164796	19291		75	1.455		HGNC	p.S1592I		CSMD3		SNV							ENST00000343508	protein_coding	getma.org/?cm=var&var=hg19,8,113518920,C,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		S/I		A	low	5140/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=1588&re=1693&var=S1632I	tolerated(0.32)				YES	CSMD3,missense_variant,p.Ser1632Ile,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Ser1592Ile,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Ser1632Ile,ENST00000352409,;CSMD3,missense_variant,p.Ser1528Ile,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Ser972Ile,ENST00000339701,;							MODERATE	4895/11124	S1632I	CSMD3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000297405		CCDS6315.1			1	
FNIP1	0	LGGM	GRCh37	5	131013518	131013518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	79	5	.	.	ENST00000510461.1:c.1397G>T	p.Trp466Leu	p.W466L	ENST00000510461	NM_133372.2	466	tGg/tTg	0	1	1	UPI00001AEE81	0	NA	ENST00000510461		ENSG00000217128	29418		84	2.76		HGNC	p.W438L		FNIP1		SNV							ENST00000307968	protein_coding	getma.org/?cm=var&var=hg19,5,131013518,C,A&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14637		W/L		A	medium	1493/3845		getma.org/?cm=msa&ty=f&p=FNIP1_HUMAN&rb=1&re=567&var=W466L	deleterious(0.02)	B3KX44_HUMAN			YES	FNIP1,missense_variant,p.Trp438Leu,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Trp421Leu,ENST00000307954,;FNIP1,missense_variant,p.Trp466Leu,ENST00000510461,NM_133372.2;FNIP1,missense_variant,p.Trp466Leu,ENST00000511848,;CTC-432M15.3,intron_variant,,ENST00000514667,;							MODERATE	1397/3501	W466L	FNIP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000421985		CCDS34227.1			1	
CMYA5	0	LGGM	GRCh37	5	79027097	79027097	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	5	.	.	ENST00000446378.2:c.2509G>T	p.Gly837Cys	p.G837C	ENST00000446378	NM_153610.3	837	Ggc/Tgc	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		77	0.69		HGNC	p.G837C		CMYA5		SNV							ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79027097,G,T&fts=all		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7		G/C		T	neutral	2540/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=801&re=1000&var=G837C					YES	CMYA5,missense_variant,p.Gly837Cys,ENST00000446378,NM_153610.3;							MODERATE	2509/12210	G837C	CMYA5_HUMAN			Transcript		possibly_damaging(0.585)	.	ENSP00000394770		CCDS47238.1			1	
FSIP2	0	LGGM	GRCh37	2	186671328	186671328	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	5	.	.	ENST00000343098.5:c.17562C>A	p.Pro5854=	p.P5854=	ENST00000343098	NM_173651.2	5854	ccC/ccA	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		45			HGNC	p.P5765P		FSIP2		SNV							ENST00000424728	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		P		A		17295/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;							LOW	17295/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306					1	
YES1	0	LGGM	GRCh37	18	745724	745724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	63	5	.	.	ENST00000314574.4:c.708G>T	p.Leu236Phe	p.L236F	ENST00000314574	NM_005433.3	236	ttG/ttT	0	1		UPI0000062316	0	getma.org/pdb.php?prot=YES_HUMAN&from=158&to=240&var=L236F	ENST00000314574		ENSG00000176105	12841		68	3.29		HGNC	p.L236F	rs751544565	YES1		SNV							ENST00000584307	protein_coding	getma.org/?cm=var&var=hg19,18,745724,C,A&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF90,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401		L/F		A	medium	841/4441	1.51E-05	getma.org/?cm=msa&ty=f&p=YES_HUMAN&rb=158&re=240&var=L236F	deleterious(0)					YES1,missense_variant,p.Leu236Phe,ENST00000584307,;YES1,missense_variant,p.Leu241Phe,ENST00000577961,;YES1,missense_variant,p.Leu236Phe,ENST00000314574,NM_005433.3;							MODERATE	708/1632	L236F	YES_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000324740	8.24E-06	CCDS11824.1			1	
INTS2	0	LGGM	GRCh37	17	59949712	59949712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	77	5	.	.	ENST00000444766.3:c.2716C>A	p.Gln906Lys	p.Q906K	ENST00000444766	NM_020748.2	906	Cag/Aag	0	1	1	UPI0000E5A03A	0	NA	ENST00000444766		ENSG00000108506	29241		82	0		HGNC	p.Q906K		INTS2		SNV							ENST00000444766	protein_coding	getma.org/?cm=var&var=hg19,17,59949712,G,T&fts=all		Pfam_domain:PF14750		Q/K		T	neutral	2792/5878		getma.org/?cm=msa&ty=f&p=INT2_HUMAN&rb=6&re=1202&var=Q906K	tolerated(0.93)	J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,missense_variant,p.Gln906Lys,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Gln898Lys,ENST00000251334,;Y_RNA,downstream_gene_variant,,ENST00000365491,;INTS2,non_coding_transcript_exon_variant,,ENST00000583822,;							MODERATE	2716/3615	Q906K	INT2_HUMAN			Transcript		benign(0.019)	.	ENSP00000414237		CCDS45750.1			1	
TP53BP2	0	LGGM	GRCh37	1	223988455	223988455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	37	5	.	.	ENST00000343537.7:c.1283C>A	p.Pro428Gln	p.P428Q	ENST00000343537	NM_001031685.2	428	cCa/cAa	0	1	1	UPI0000D4B5F2	0	NA	ENST00000343537		ENSG00000143514	12000		42	1.61		HGNC	p.P428Q		TP53BP2		SNV							ENST00000343537	protein_coding	getma.org/?cm=var&var=hg19,1,223988455,G,T&fts=all		hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF8		P/Q		T	low	1575/4651		getma.org/?cm=msa&ty=f&p=ASPP2_HUMAN&rb=401&re=600&var=P422Q	tolerated(0.41)	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN			YES	TP53BP2,missense_variant,p.Pro299Gln,ENST00000391878,NM_005426.2;TP53BP2,missense_variant,p.Pro428Gln,ENST00000343537,NM_001031685.2;TP53BP2,intron_variant,,ENST00000494100,;TP53BP2,upstream_gene_variant,,ENST00000391879,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000489310,;TP53BP2,downstream_gene_variant,,ENST00000481128,;TP53BP2,downstream_gene_variant,,ENST00000496282,;TP53BP2,upstream_gene_variant,,ENST00000483398,;TP53BP2,upstream_gene_variant,,ENST00000464656,;TP53BP2,downstream_gene_variant,,ENST00000490896,;TP53BP2,downstream_gene_variant,,ENST00000464172,;							MODERATE	1283/3405	P422Q	ASPP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000341957		CCDS44319.1			1	
BAZ2A	0	LGGM	GRCh37	12	56995041	56995041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	40	5	.	.	ENST00000551812.1:c.4223G>T	p.Gly1408Val	p.G1408V	ENST00000551812	NM_013449.3	1408	gGg/gTg	0	1	1	UPI0000D4FED1	0	NA	ENST00000551812		ENSG00000076108	962		45	1.59		HGNC	p.G1406V		BAZ2A		SNV							ENST00000549884	protein_coding	getma.org/?cm=var&var=hg19,12,56995041,C,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141,SMART_domains:SM00384		G/V		A	low	4417/8600		getma.org/?cm=msa&ty=f&p=BAZ2A_HUMAN&rb=1311&re=1510&var=G1408V	deleterious(0)	F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,missense_variant,p.Gly1376Val,ENST00000179765,;BAZ2A,missense_variant,p.Gly1378Val,ENST00000379441,;BAZ2A,missense_variant,p.Gly1408Val,ENST00000551812,NM_013449.3;BAZ2A,missense_variant,p.Gly1406Val,ENST00000549884,;BAZ2A,missense_variant,p.Gly344Val,ENST00000549787,;BAZ2A,missense_variant,p.Gly77Val,ENST00000547453,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000548578,;BAZ2A,downstream_gene_variant,,ENST00000551759,;							MODERATE	4223/5718	G1408V	BAZ2A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000446880		CCDS44924.1			1	
AF165138.7	0	LGGM	GRCh37	21	16015366	16015366	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	69	5	.	.	ENST00000400562.1:c.113C>A	p.Pro38Gln	p.P38Q	ENST00000400562		38	cCa/cAa	0	1	1	UPI0000E5A37E	0	NA	ENST00000400562		ENSG00000243440			74	0		Clone_based_vega_gene	p.P38Q		AF165138.7		SNV							ENST00000400562	protein_coding	getma.org/?cm=var&var=hg19,21,16015366,G,T&fts=all				P/Q		T	neutral	163/808		getma.org/?cm=msa&ty=f&p=YU005_HUMAN&rb=9&re=153&var=P38Q	tolerated(0.15)				YES	AF165138.7,missense_variant,p.Pro30Gln,ENST00000435732,NM_001256579.1;AF165138.7,missense_variant,p.Pro38Gln,ENST00000400562,;							MODERATE	113/498	P38Q	YU005_HUMAN			Transcript		benign(0.264)	.	ENSP00000383407					1	
ADAM17	0	LGGM	GRCh37	2	9666306	9666306	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	77	5	.	.	ENST00000310823.3:c.687G>T	p.Val229=	p.V229=	ENST00000310823	NM_003183.4	229	gtG/gtT	0	1	1	UPI00001254D4	0		ENST00000310823		ENSG00000151694	195		82			HGNC	p.V229V		ADAM17		SNV			1				ENST00000497134	protein_coding			PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121,Gene3D:3.40.390.10,Pfam_domain:PF13688,Superfamily_domains:SSF55486		V		A		870/4349				Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN			YES	ADAM17,synonymous_variant,p.=,ENST00000310823,NM_003183.4;ADAM17,synonymous_variant,p.=,ENST00000497134,;ADAM17,downstream_gene_variant,,ENST00000478059,;							LOW	687/2475		ADA17_HUMAN			Transcript			.	ENSP00000309968		CCDS1665.1			1	
FKBP15	0	LGGM	GRCh37	9	115962094	115962094	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	39	5	.	.	ENST00000238256.3:c.648G>T	p.Gln216His	p.Q216H	ENST00000238256	NM_015258.1	216	caG/caT	0	1	1	UPI000022D996	0	getma.org/pdb.php?prot=FKB15_HUMAN&from=191&to=287&var=Q216H	ENST00000238256		ENSG00000119321	23397		44	1.655		HGNC	p.Q216H		FKBP15		SNV							ENST00000238256	protein_coding	getma.org/?cm=var&var=hg19,9,115962094,C,A&fts=all		PROSITE_profiles:PS50059,Pfam_domain:PF00254,Gene3D:3.10.50.40,Superfamily_domains:SSF54534		Q/H		A	low	766/4336		getma.org/?cm=msa&ty=f&p=FKB15_HUMAN&rb=191&re=287&var=Q216H	deleterious(0)	B4DZS8_HUMAN			YES	FKBP15,missense_variant,p.Gln241His,ENST00000446284,;FKBP15,missense_variant,p.Gln216His,ENST00000238256,NM_015258.1;FKBP15,missense_variant,p.Gln241His,ENST00000414250,;							MODERATE	648/3660	Q216H	FKB15_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000238256		CCDS48007.1			1	
PALLD	0	LGGM	GRCh37	4	169819658	169819658	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	5	.	.	ENST00000505667.1:c.2265C>A	p.Ser755=	p.S755=	ENST00000505667		755	tcC/tcA	0	1	1	UPI000189A85C	0		ENST00000505667		ENSG00000129116	17068		29			HGNC	p.S31S		PALLD		SNV			1				ENST00000393726	protein_coding			hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152		S		A		2438/3637				Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN			YES	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,;PALLD,synonymous_variant,p.=,ENST00000510998,;CBR4,intron_variant,,ENST00000509108,;PALLD,non_coding_transcript_exon_variant,,ENST00000507699,;PALLD,non_coding_transcript_exon_variant,,ENST00000507325,;PALLD,non_coding_transcript_exon_variant,,ENST00000513187,;PALLD,non_coding_transcript_exon_variant,,ENST00000511611,;CBR4,intron_variant,,ENST00000510042,;PALLD,upstream_gene_variant,,ENST00000511682,;							LOW	2265/3372		PALLD_HUMAN			Transcript			.	ENSP00000425556		CCDS54818.1			1	
NSD1	0	LGGM	GRCh37	5	176665247	176665247	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	93	5	.	.	ENST00000439151.2:c.3931C>A	p.Arg1311Ser	p.R1311S	ENST00000439151	NM_022455.4	1311	Cgc/Agc	0	1	1	UPI000006F9C6	0	NA	ENST00000439151		ENSG00000165671	14234		98	0.55		HGNC	p.R1042S		NSD1		SNV			1				ENST00000354179	protein_coding	getma.org/?cm=var&var=hg19,5,176665247,C,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312		R/S		A	neutral	3976/12892		getma.org/?cm=msa&ty=f&p=NSD1_HUMAN&rb=1259&re=1458&var=R1311S	tolerated_low_confidence(0.06)	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,missense_variant,p.Arg1311Ser,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Arg1208Ser,ENST00000361032,;NSD1,missense_variant,p.Arg1042Ser,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Arg1042Ser,ENST00000347982,;NSD1,intron_variant,,ENST00000375350,;							MODERATE	3931/8091	R1311S	NSD1_HUMAN			Transcript		benign(0.289)	.	ENSP00000395929		CCDS4412.1			1	
FLI1	0	LGGM	GRCh37	11	128642748	128642748	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	5	.	.	ENST00000527786.2:c.457G>T	p.Glu153Ter	p.E153*	ENST00000527786	NM_001271010.1	153	Gag/Tag	0	1	1	UPI000012A972	0	NA	ENST00000527786		ENSG00000151702	3749		77	0		HGNC	p.E87X		FLI1		SNV			1				ENST00000281428	protein_coding	getma.org/?cm=var&var=hg19,11,128642748,G,T&fts=all		Superfamily_domains:SSF47769,SMART_domains:SM00251,Pfam_domain:PF02198,Gene3D:1.10.150.50,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF180,PROSITE_profiles:PS51433		E/*		T	NA	946/4127		NA					YES	FLI1,stop_gained,p.Glu153Ter,ENST00000527786,NM_001271010.1,NM_002017.4;FLI1,stop_gained,p.Glu120Ter,ENST00000344954,;FLI1,stop_gained,p.Glu120Ter,ENST00000534087,NM_001167681.2;FLI1,stop_gained,p.Glu87Ter,ENST00000281428,;FLI1,intron_variant,,ENST00000525560,NM_001271012.1;FLI1,downstream_gene_variant,,ENST00000527767,;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,intron_variant,,ENST00000608303,;FLI1,downstream_gene_variant,,ENST00000608055,;							HIGH	457/1359	E153*				Transcript			.	ENSP00000433488		CCDS44768.1			1	
KLHL24	0	LGGM	GRCh37	3	183388834	183388834	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	94	5	.	.	ENST00000454652.2:c.1237G>T	p.Gly413Cys	p.G413C	ENST00000454652	NM_017644.3	413	Ggt/Tgt	0	1		UPI000020A86F	0	getma.org/pdb.php?prot=KLH24_HUMAN&from=396&to=441&var=G413C	ENST00000242810		ENSG00000114796	25947		99	3.905		HGNC	p.G413C		KLHL24		SNV							ENST00000454652	protein_coding	getma.org/?cm=var&var=hg19,3,183388834,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF11,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715		G/C		T	high	1587/2345		getma.org/?cm=msa&ty=f&p=KLH24_HUMAN&rb=396&re=441&var=G413C	deleterious(0)	C9JXR5_HUMAN,C9JQ67_HUMAN,C9JN72_HUMAN,C9JMQ9_HUMAN,C9JCK3_HUMAN,C9J3M5_HUMAN,C9J2N4_HUMAN,C9J0A6_HUMAN				KLHL24,missense_variant,p.Gly413Cys,ENST00000454652,NM_017644.3;KLHL24,missense_variant,p.Gly413Cys,ENST00000242810,;KLHL24,missense_variant,p.Gly413Cys,ENST00000476808,;KLHL24,non_coding_transcript_exon_variant,,ENST00000475827,;KLHL24,non_coding_transcript_exon_variant,,ENST00000492409,;							MODERATE	1237/1803	G413C	KLH24_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000242810		CCDS3246.1			1	
DDX6	0	LGGM	GRCh37	11	118626969	118626969	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	70	5	.	.	ENST00000264018.4:c.1174G>T	p.Asp392Tyr	p.D392Y	ENST00000264018	NM_004397.4	392	Gat/Tat	0	1		UPI000013D4A2	0	getma.org/pdb.php?prot=DDX6_HUMAN&from=352&to=429&var=D392Y	ENST00000526070		ENSG00000110367	2747		75	3.745		HGNC	p.D392Y		DDX6		SNV							ENST00000264018	protein_coding	getma.org/?cm=var&var=hg19,11,118626969,C,A&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF214,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Pfam_domain:PF00271,SMART_domains:SM00490,Superfamily_domains:SSF52540		D/Y		A	high	1535/1936		getma.org/?cm=msa&ty=f&p=DDX6_HUMAN&rb=352&re=429&var=D392Y	deleterious(0)	B2R858_HUMAN				DDX6,missense_variant,p.Asp392Tyr,ENST00000264018,NM_004397.4;DDX6,missense_variant,p.Asp392Tyr,ENST00000534980,;DDX6,missense_variant,p.Asp392Tyr,ENST00000526070,NM_001257191.1;DDX6,splice_region_variant,,ENST00000529162,;							MODERATE	1174/1452	D392Y	DDX6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000433704		CCDS44751.1			1	
RAPGEF2	0	LGGM	GRCh37	4	160225572	160225572	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	53	5	.	.	ENST00000264431.4:c.139G>T	p.Gly47Ter	p.G47*	ENST00000264431	NM_014247.2	47	Gga/Tga	0	1	1	UPI0000033783	0	NA	ENST00000264431		ENSG00000109756	16854		58	0		HGNC	p.G47X		RAPGEF2		SNV							ENST00000264431	protein_coding	getma.org/?cm=var&var=hg19,4,160225572,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202		G/*		T	NA	558/6949		NA		Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN			YES	RAPGEF2,stop_gained,p.Gly47Ter,ENST00000264431,NM_014247.2;RAPGEF2,stop_gained,p.Gly203Ter,ENST00000505478,;RAPGEF2,stop_gained,p.Gly28Ter,ENST00000514565,;RAPGEF2,stop_gained,p.Gly45Ter,ENST00000510510,;RAPGEF2,5_prime_UTR_variant,,ENST00000511336,;RAPGEF2,non_coding_transcript_exon_variant,,ENST00000504604,;							HIGH	139/4500	G47*	RPGF2_HUMAN			Transcript			.	ENSP00000264431		CCDS43277.1			1	
BTN3A1	0	LGGM	GRCh37	6	26408028	26408028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	69	5	.	.	ENST00000289361.6:c.563C>A	p.Pro188Gln	p.P188Q	ENST00000289361	NM_001145009.1	188	cCg/cAg	0	1	1	UPI000013C904	0	NA	ENST00000289361		ENSG00000026950	1138		74	2.395		HGNC	p.P188Q		BTN3A1		SNV							ENST00000476549	protein_coding	getma.org/?cm=var&var=hg19,6,26408028,C,A&fts=all		Superfamily_domains:SSF48726,Gene3D:2.60.40.10,Pfam_domain:PF08205,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF56,PROSITE_profiles:PS50835		P/Q		A	medium	931/3434		getma.org/?cm=msa&ty=f&p=BT3A1_HUMAN&rb=154&re=231&var=P188Q	deleterious(0)	E9PFB8_HUMAN,E7EPR2_HUMAN,B4DQ62_HUMAN,A6PVC0_HUMAN			YES	BTN3A1,missense_variant,p.Pro188Gln,ENST00000289361,NM_001145009.1,NM_007048.5,NM_001145008.1;BTN3A1,missense_variant,p.Pro188Gln,ENST00000425234,;BTN3A1,missense_variant,p.Pro188Gln,ENST00000476549,NM_194441.2;BTN3A1,intron_variant,,ENST00000414912,;BTN3A1,downstream_gene_variant,,ENST00000506698,;BTN3A1,downstream_gene_variant,,ENST00000450085,;BTN3A1,downstream_gene_variant,,ENST00000427334,;BTN3A1,non_coding_transcript_exon_variant,,ENST00000082468,;BTN3A1,upstream_gene_variant,,ENST00000502361,;BTN3A1,upstream_gene_variant,,ENST00000513047,;BTN3A1,downstream_gene_variant,,ENST00000465690,;							MODERATE	563/1542	P188Q	BT3A1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000289361		CCDS4608.1			1	
LRRN1	0	LGGM	GRCh37	3	3887854	3887854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	73	5	.	.	ENST00000319331.3:c.1529G>T	p.Arg510Leu	p.R510L	ENST00000319331	NM_020873.5	510	cGg/cTg	0	1	1	UPI0000034CB8	0	getma.org/pdb.php?prot=LRRN1_HUMAN&from=426&to=516&var=R510L	ENST00000319331		ENSG00000175928	20980		78	1.05		HGNC	p.R510L		LRRN1		SNV							ENST00000319331	protein_coding	getma.org/?cm=var&var=hg19,3,3887854,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF97,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/L		T	low	2290/3823		getma.org/?cm=msa&ty=f&p=LRRN1_HUMAN&rb=426&re=516&var=R510L	deleterious(0)				YES	LRRN1,missense_variant,p.Arg510Leu,ENST00000319331,NM_020873.5;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;							MODERATE	1529/2151	R510L	LRRN1_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000314901		CCDS33685.1			1	
SETD5	0	LGGM	GRCh37	3	9515150	9515150	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	59	5	.	.	ENST00000402198.1:c.3426G>T	p.Ala1142=	p.A1142=	ENST00000402198	NM_001080517.1	1142	gcG/gcT	0	1	1	UPI0000411FEE	0		ENST00000402198		ENSG00000168137	25566		64			HGNC	p.A1044A		SETD5		SNV			1				ENST00000302463	protein_coding			hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF11		A		T		3861/6827				C9JLM1_HUMAN,C9JLA7_HUMAN,A8K0G4_HUMAN			YES	SETD5,synonymous_variant,p.=,ENST00000402466,;SETD5,synonymous_variant,p.=,ENST00000402198,NM_001080517.1;SETD5,synonymous_variant,p.=,ENST00000406341,;SETD5,synonymous_variant,p.=,ENST00000407969,;SETD5,synonymous_variant,p.=,ENST00000302463,;SETD5,synonymous_variant,p.=,ENST00000399686,;SETD5,downstream_gene_variant,,ENST00000421188,;SETD5,non_coding_transcript_exon_variant,,ENST00000479538,;SETD5,3_prime_UTR_variant,,ENST00000413704,;SETD5,non_coding_transcript_exon_variant,,ENST00000493918,;SETD5,non_coding_transcript_exon_variant,,ENST00000466242,;SETD5,non_coding_transcript_exon_variant,,ENST00000459941,;SETD5,non_coding_transcript_exon_variant,,ENST00000486465,;SETD5,non_coding_transcript_exon_variant,,ENST00000492939,;SETD5,upstream_gene_variant,,ENST00000466826,;							LOW	3426/4329		SETD5_HUMAN			Transcript			.	ENSP00000385852		CCDS46741.1			1	
MROH7	0	LGGM	GRCh37	1	55175726	55175726	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	5	.	.	ENST00000421030.2:c.3838G>T	p.Gly1280Trp	p.G1280W	ENST00000421030	NM_001039464.2	1280	Ggg/Tgg	0	1	1	UPI000198C4E2	0	NA	ENST00000421030		ENSG00000184313	24802		15	1.79		HGNC	p.G848W		MROH7		SNV							ENST00000409996	protein_coding	getma.org/?cm=var&var=hg19,1,55175726,G,T&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9		G/W		T	low	4123/4329		getma.org/?cm=msa&ty=f&p=HEAT8_HUMAN&rb=421&re=1320&var=G1280W	deleterious(0.03)	C9K0L2_HUMAN,B7ZBM2_HUMAN			YES	MROH7,missense_variant,p.Gly1280Trp,ENST00000421030,NM_001039464.2;MROH7,missense_variant,p.Gly848Trp,ENST00000409996,;MROH7,missense_variant,p.Gly798Trp,ENST00000454855,;MROH7,3_prime_UTR_variant,,ENST00000413188,;MROH7,3_prime_UTR_variant,,ENST00000422659,;MROH7,3_prime_UTR_variant,,ENST00000440047,;MROH7,3_prime_UTR_variant,,ENST00000440217,;MROH7,non_coding_transcript_exon_variant,,ENST00000371287,;MROH7-TTC4,intron_variant,,ENST00000425300,;MROH7-TTC4,intron_variant,,ENST00000414150,;MROH7-TTC4,intron_variant,,ENST00000606515,;MROH7-TTC4,intron_variant,,ENST00000460155,;							MODERATE	3838/3972	G1280W	MROH7_HUMAN			Transcript		benign(0.305)	.	ENSP00000396622		CCDS41342.2			1	
ASXL2	0	LGGM	GRCh37	2	25990453	25990453	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	93	5	.	.	ENST00000435504.4:c.774C>A	p.Thr258=	p.T258=	ENST00000435504		258	acC/acA	0	1	1	UPI00001DFBE8	0		ENST00000435504		ENSG00000143970	23805		98			HGNC	p.T258T		ASXL2		SNV							ENST00000435504	protein_coding			hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578,Pfam_domain:PF13919		T		T		1068/12878							YES	ASXL2,splice_region_variant,p.=,ENST00000435504,;ASXL2,splice_region_variant,p.=,ENST00000336112,NM_018263.4;ASXL2,splice_region_variant,,ENST00000272341,;ASXL2,splice_region_variant,,ENST00000404843,;ASXL2,downstream_gene_variant,,ENST00000497092,;							LOW	774/4308		ASXL2_HUMAN			Transcript			.	ENSP00000391447					1	
PTPN5	0	LGGM	GRCh37	11	18754229	18754229	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	5	.	.	ENST00000358540.2:c.1239G>T	p.Pro413=	p.P413=	ENST00000358540	NM_006906.1	413	ccG/ccT	0	1	1	UPI00001AE663	0		ENST00000358540		ENSG00000110786	9657		25			HGNC	p.P381P		PTPN5		SNV							ENST00000396167	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,PIRSF_domain:PIRSF001997,Superfamily_domains:SSF52799		P		A		1670/3135				Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN			YES	PTPN5,synonymous_variant,p.=,ENST00000396170,NM_001278236.1;PTPN5,synonymous_variant,p.=,ENST00000358540,NM_006906.1;PTPN5,synonymous_variant,p.=,ENST00000396171,NM_032781.3;PTPN5,synonymous_variant,p.=,ENST00000396167,NM_001278239.1,NM_001039970.1;PTPN5,synonymous_variant,p.=,ENST00000477854,;PTPN5,synonymous_variant,p.=,ENST00000396168,NM_001278238.1;PTPN5,upstream_gene_variant,,ENST00000396166,;RP11-1081L13.4,intron_variant,,ENST00000527285,;							LOW	1239/1698		PTN5_HUMAN			Transcript			.	ENSP00000351342		CCDS7845.1			1	
NEB	0	LGGM	GRCh37	2	152529132	152529132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	90	5	.	.	ENST00000397345.3:c.4050G>T	p.Gln1350His	p.Q1350H	ENST00000397345	NM_001164508.1	1350	caG/caT	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		95	2.15		HGNC	p.Q1350H		NEB		SNV			1				ENST00000397345	protein_coding	getma.org/?cm=var&var=hg19,2,152529132,C,A&fts=all		PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		Q/H		A	medium	4198/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=1312&re=1380&var=Q1350H		J3QK84_HUMAN				NEB,missense_variant,p.Gln1350His,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Gln1350His,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Gln1350His,ENST00000603639,;NEB,missense_variant,p.Gln1350His,ENST00000604864,;NEB,missense_variant,p.Gln1350His,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Gln1350His,ENST00000172853,;NEB,upstream_gene_variant,,ENST00000484968,;							MODERATE	4050/20010	Q1350H				Transcript		probably_damaging(0.996)	.	ENSP00000172853					1	
KCNH8	0	LGGM	GRCh37	3	19436674	19436674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	63	5	.	.	ENST00000328405.2:c.1048C>A	p.Gln350Lys	p.Q350K	ENST00000328405	NM_144633.2	350	Caa/Aaa	0	1	1	UPI0000167D12	0	NA	ENST00000328405		ENSG00000183960	18864		68	1.525		HGNC	p.Q350K		KCNH8		SNV							ENST00000328405	protein_coding	getma.org/?cm=var&var=hg19,3,19436674,C,A&fts=all		Prints_domain:PR01465,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.10.287.70,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380		Q/K		A	low	1314/5137		getma.org/?cm=msa&ty=f&p=KCNH8_HUMAN&rb=259&re=469&var=Q350K	deleterious(0)				YES	KCNH8,missense_variant,p.Gln350Lys,ENST00000328405,NM_144633.2;KCNH8,5_prime_UTR_variant,,ENST00000537696,;KCNH8,non_coding_transcript_exon_variant,,ENST00000475063,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;							MODERATE	1048/3324	Q350K	KCNH8_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000328813		CCDS2632.1			1	
DIP2C	0	LGGM	GRCh37	10	461810	461810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	51	5	.	.	ENST00000280886.6:c.758G>T	p.Arg253Leu	p.R253L	ENST00000280886	NM_014974.2	253	cGg/cTg	0	1	1	UPI00001833B9	0	NA	ENST00000280886		ENSG00000151240	29150		56	2.35		HGNC	p.R253L		DIP2C		SNV							ENST00000280886	protein_coding	getma.org/?cm=var&var=hg19,10,461810,C,A&fts=all		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25		R/L		A	medium	846/7894		getma.org/?cm=msa&ty=f&p=DIP2C_HUMAN&rb=121&re=320&var=R253L	deleterious(0)				YES	DIP2C,missense_variant,p.Arg253Leu,ENST00000280886,NM_014974.2;DIP2C,missense_variant,p.Arg146Leu,ENST00000381496,;							MODERATE	758/4671	R253L	DIP2C_HUMAN			Transcript		benign(0.198)	.	ENSP00000280886		CCDS7054.1			1	
ADAMTS12	0	LGGM	GRCh37	5	33527321	33527321	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	88	5	.	.	ENST00000504830.1:c.4757G>T	p.Arg1586Leu	p.R1586L	ENST00000504830	NM_030955.2	1586	cGg/cTg	0	1	1	UPI000013DC51	0	NA	ENST00000504830		ENSG00000151388	14605		93	1.1		HGNC	p.R1586L		ADAMTS12		SNV							ENST00000504830	protein_coding	getma.org/?cm=var&var=hg19,5,33527321,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150		R/L		A	low	5093/8774		getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=1532&re=1594&var=R1586L	deleterious(0.04)				YES	ADAMTS12,missense_variant,p.Arg1586Leu,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.Arg1501Leu,ENST00000352040,;CTD-2233C11.2,upstream_gene_variant,,ENST00000511579,;							MODERATE	4757/4785	R1586L	ATS12_HUMAN			Transcript		unknown(0)	.	ENSP00000422554		CCDS34140.1			1	
TMEM100	0	LGGM	GRCh37	17	53798162	53798162	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	5	.	.	ENST00000575734.1:c.270G>T	p.Leu90=	p.L90=	ENST00000575734	NM_001099640.1	90	ctG/ctT	0	1		UPI000004A0C2	0		ENST00000424486		ENSG00000166292	25607		83			HGNC	p.L90L	COSM361896	TMEM100		SNV						1	ENST00000571679	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR16100,hmmpanther:PTHR16100:SF2,Pfam_domain:PF15099		L		A		573/1747								TMEM100,synonymous_variant,p.=,ENST00000575734,NM_001099640.1;TMEM100,synonymous_variant,p.=,ENST00000424486,NM_018286.2;TMEM100,synonymous_variant,p.=,ENST00000571679,;TMEM100,downstream_gene_variant,,ENST00000570586,;TMEM100,downstream_gene_variant,,ENST00000575685,;TMEM100,downstream_gene_variant,,ENST00000575806,;					1		LOW	270/405		TM100_HUMAN			Transcript			.	ENSP00000395328		CCDS11587.1			1	
WDR17	0	LGGM	GRCh37	4	177069435	177069435	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	5	.	.	ENST00000280190.4:c.1918C>A	p.Arg640=	p.R640=	ENST00000280190		640	Cga/Aga	0	1	1	UPI000019C575	0		ENST00000280190		ENSG00000150627	16661		77			HGNC	p.R623R		WDR17		SNV							ENST00000507824	protein_coding			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344,Gene3D:2.130.10.10,Superfamily_domains:SSF50998		R		A		2074/4705				Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,synonymous_variant,p.=,ENST00000393643,NM_170710.4;WDR17,synonymous_variant,p.=,ENST00000280190,;WDR17,synonymous_variant,p.=,ENST00000508596,NM_181265.3;WDR17,synonymous_variant,p.=,ENST00000507824,;WDR17,upstream_gene_variant,,ENST00000443118,;							LOW	1918/3969		WDR17_HUMAN			Transcript			.	ENSP00000280190		CCDS3825.1			1	
PRR14L	0	LGGM	GRCh37	22	32109884	32109884	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	78	6	.	.	ENST00000327423.6:c.3941C>A	p.Pro1314His	p.P1314H	ENST00000327423	NM_173566.2	1314	cCt/cAt	0	1	1	UPI0000207582	0	NA	ENST00000327423		ENSG00000183530	28738		84	0		HGNC	p.P1314H		PRR14L		SNV							ENST00000327423	protein_coding	getma.org/?cm=var&var=hg19,22,32109884,G,T&fts=all		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		P/H		T	neutral	4131/10826		getma.org/?cm=msa&ty=f&p=PR14L_HUMAN&rb=691&re=1499&var=P1314H	deleterious(0.01)	C9J9V0_HUMAN			YES	PRR14L,missense_variant,p.Pro1314His,ENST00000327423,NM_173566.2;PRR14L,missense_variant,p.Pro1314His,ENST00000434485,;PRR14L,missense_variant,p.Pro1314His,ENST00000397493,;PRR14L,upstream_gene_variant,,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000461722,;PRR14L,upstream_gene_variant,,ENST00000492705,;PRR14L,upstream_gene_variant,,ENST00000431684,;							MODERATE	3941/6456	P1314H	PR14L_HUMAN			Transcript		benign(0.126)	.	ENSP00000331845		CCDS13900.2			1	
INPP4A	0	LGGM	GRCh37	2	99204041	99204041	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	97	6	.	.	ENST00000074304.5:c.2904C>A	p.Pro968=	p.P968=	ENST00000074304	NM_001134224.1	968	ccC/ccA	0	1	1	UPI000006CD60	0		ENST00000074304		ENSG00000040933	6074		103			HGNC	p.P968P		INPP4A		SNV							ENST00000523221	protein_coding			hmmpanther:PTHR12187:SF4,hmmpanther:PTHR12187		P		A		3297/6752							YES	INPP4A,synonymous_variant,p.=,ENST00000409016,;INPP4A,synonymous_variant,p.=,ENST00000074304,NM_001134224.1,NM_004027.2;INPP4A,synonymous_variant,p.=,ENST00000545415,;INPP4A,synonymous_variant,p.=,ENST00000409851,NM_001134225.1;INPP4A,synonymous_variant,p.=,ENST00000523221,;INPP4A,synonymous_variant,p.=,ENST00000409463,;INPP4A,downstream_gene_variant,,ENST00000498026,;							LOW	2904/2934		INP4A_HUMAN			Transcript			.	ENSP00000074304		CCDS46369.1			1	
IGF2BP2	0	LGGM	GRCh37	3	185407396	185407396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	6	.	.	ENST00000382199.2:c.424G>T	p.Gly142Trp	p.G142W	ENST00000382199	NM_006548.4	142	Ggg/Tgg	0	1	1	UPI000013C5B6	0	getma.org/pdb.php?prot=IF2B2_HUMAN&from=84&to=151&var=G142W	ENST00000382199		ENSG00000073792	28867		34	3.235		HGNC	p.G148W		IGF2BP2		SNV							ENST00000457616	protein_coding	getma.org/?cm=var&var=hg19,3,185407396,C,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR10288:SF93,hmmpanther:PTHR10288,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		G/W		A	medium	520/3688		getma.org/?cm=msa&ty=f&p=IF2B2_HUMAN&rb=84&re=151&var=G142W	deleterious(0)				YES	IGF2BP2,missense_variant,p.Gly142Trp,ENST00000382199,NM_006548.4;IGF2BP2,missense_variant,p.Gly148Trp,ENST00000457616,;IGF2BP2,missense_variant,p.Gly85Trp,ENST00000421047,;IGF2BP2,missense_variant,p.Gly142Trp,ENST00000346192,NM_001007225.1;IGF2BP2,non_coding_transcript_exon_variant,,ENST00000461957,;IGF2BP2,non_coding_transcript_exon_variant,,ENST00000493302,;IGF2BP2,upstream_gene_variant,,ENST00000494906,;							MODERATE	424/1800	G142W	IF2B2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000371634		CCDS3273.2			1	
RAB38	0	LGGM	GRCh37	11	87882982	87882982	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	109	6	.	.	ENST00000243662.6:c.344C>A	p.Pro115His	p.P115H	ENST00000243662	NM_022337.2	115	cCt/cAt	0	1	1	UPI000003F780	0	getma.org/pdb.php?prot=RAB38_HUMAN&from=11&to=179&var=P115H	ENST00000243662		ENSG00000123892	9776		115	1.455		HGNC	p.P115H		RAB38		SNV							ENST00000243662	protein_coding	getma.org/?cm=var&var=hg19,11,87882982,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF409,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		P/H		T	low	427/1465		getma.org/?cm=msa&ty=f&p=RAB38_HUMAN&rb=11&re=179&var=P115H	tolerated(0.08)				YES	RAB38,missense_variant,p.Pro115His,ENST00000243662,NM_022337.2;RAB38,missense_variant,p.Pro114His,ENST00000526372,;RAB38,intron_variant,,ENST00000531138,;							MODERATE	344/636	P115H	RAB38_HUMAN			Transcript		possibly_damaging(0.667)	.	ENSP00000243662		CCDS8281.1			1	
USP40	0	LGGM	GRCh37	2	234460050	234460050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	92	6	.	.	ENST00000450966.1:c.845G>T	p.Arg282Leu	p.R282L	ENST00000450966	NM_018218.2	282	cGg/cTg	0	1		UPI00004C8020	0	getma.org/pdb.php?prot=UBP40_HUMAN&from=38&to=479&var=R270L	ENST00000251722		ENSG00000085982	20069		98	0.945		HGNC	p.R270L		USP40		SNV							ENST00000427112	protein_coding	getma.org/?cm=var&var=hg19,2,234460050,C,A&fts=all		Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF423,PROSITE_profiles:PS50235		R/L		A	low	927/5692		getma.org/?cm=msa&ty=f&p=UBP40_HUMAN&rb=38&re=479&var=R270L	deleterious(0.02)					USP40,missense_variant,p.Arg270Leu,ENST00000251722,;USP40,missense_variant,p.Arg282Leu,ENST00000450966,NM_018218.2;USP40,missense_variant,p.Arg270Leu,ENST00000427112,;USP40,downstream_gene_variant,,ENST00000427947,;RP11-289A15.1,downstream_gene_variant,,ENST00000604535,;							MODERATE	809/3708	R270L	UBP40_HUMAN			Transcript		benign(0.048)	.	ENSP00000251722					1	
RBBP8	0	LGGM	GRCh37	18	20602152	20602152	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	133	6	.	.	ENST00000399722.2:c.2515C>A	p.Arg839=	p.R839=	ENST00000399722	NM_203291.1	839	Cga/Aga	0	1		UPI000013D1A9	0		ENST00000327155		ENSG00000101773	9891		139			HGNC	p.R839R		RBBP8		SNV			1				ENST00000327155	protein_coding			hmmpanther:PTHR15107:SF2,hmmpanther:PTHR15107,Pfam_domain:PF08573		R		A		2863/3288				J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN				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.=,ENST00000583057,;RBBP8,synonymous_variant,p.=,ENST00000581687,;Y_RNA,upstream_gene_variant,,ENST00000411091,;							LOW	2515/2694		COM1_HUMAN			Transcript			.	ENSP00000323050		CCDS11875.1			1	
WDFY4	0	LGGM	GRCh37	10	49988153	49988153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	16	6	.	.	ENST00000325239.5:c.3565G>T	p.Gly1189Cys	p.G1189C	ENST00000325239	NM_020945.1	1189	Ggc/Tgc	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		22	1.32		HGNC	p.G1189C	COSM220055	WDFY4		SNV						1	ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,49988153,G,T&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		G/C		T	low	3592/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=1001&re=1200&var=G1189C	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Gly1189Cys,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000413659,;					1		MODERATE	3565/9555	G1189C	WDFY4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000320563		CCDS44385.1			1	
DHX35	0	LGGM	GRCh37	20	37634927	37634927	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	115	6	.	.	ENST00000252011.3:c.1150C>A	p.Gln384Lys	p.Q384K	ENST00000252011	NM_021931.3	384	Cag/Aag	0	1	1	UPI0000129088	0	getma.org/pdb.php?prot=DHX35_HUMAN&from=304&to=398&var=Q384K	ENST00000252011		ENSG00000101452	15861		121	0.595		HGNC	p.Q353K		DHX35		SNV							ENST00000373323	protein_coding	getma.org/?cm=var&var=hg19,20,37634927,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR18934,Low_complexity_(Seg):seg,SMART_domains:SM00490,Superfamily_domains:SSF52540		Q/K		A	neutral	1183/3325		getma.org/?cm=msa&ty=f&p=DHX35_HUMAN&rb=304&re=398&var=Q384K	tolerated(1)				YES	DHX35,missense_variant,p.Gln384Lys,ENST00000252011,NM_021931.3;DHX35,missense_variant,p.Gln384Lys,ENST00000373325,;DHX35,missense_variant,p.Gln353Lys,ENST00000373323,NM_001190809.1;DHX35,3_prime_UTR_variant,,ENST00000484417,;							MODERATE	1150/2112	Q384K	DHX35_HUMAN			Transcript		benign(0.047)	.	ENSP00000252011		CCDS13310.1			1	
WDR47	0	LGGM	GRCh37	1	109538227	109538227	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	99	6	.	.	ENST00000400794.3:c.1690G>T	p.Glu564Ter	p.E564*	ENST00000400794		564	Gag/Tag	0	1		UPI0000139DD3	0	NA	ENST00000369962		ENSG00000085433	29141		105	0		HGNC	p.E528X		WDR47		SNV							ENST00000357672	protein_coding	getma.org/?cm=var&var=hg19,1,109538227,C,A&fts=all		hmmpanther:PTHR19863		E/*		A	NA	1889/4199		NA		E9PR96_HUMAN,E9PNF6_HUMAN,E9PN15_HUMAN,E9PKZ6_HUMAN,B4DHA1_HUMAN				WDR47,stop_gained,p.Glu528Ter,ENST00000357672,;WDR47,stop_gained,p.Glu557Ter,ENST00000369965,NM_001142551.1,NM_014969.5,NM_001142550.1;WDR47,stop_gained,p.Glu556Ter,ENST00000369962,;WDR47,stop_gained,p.Glu564Ter,ENST00000400794,;WDR47,stop_gained,p.Glu528Ter,ENST00000361054,;RP11-20O24.4,downstream_gene_variant,,ENST00000538262,;RP11-20O24.4,downstream_gene_variant,,ENST00000414070,;							HIGH	1666/2760	E556*	WDR47_HUMAN			Transcript			.	ENSP00000358979		CCDS44187.1			1	
ZC3H12C	0	LGGM	GRCh37	11	110008039	110008039	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	62	6	.	.	ENST00000278590.3:c.673C>A	p.Leu225Met	p.L225M	ENST00000278590	NM_033390.1	225	Ctg/Atg	0	1	1	UPI0000DD80B8	0	NA	ENST00000278590		ENSG00000149289	29362		68	1.5		HGNC	p.L225M		ZC3H12C		SNV							ENST00000278590	protein_coding	getma.org/?cm=var&var=hg19,11,110008039,C,A&fts=all		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24		L/M		A	low	724/8807		getma.org/?cm=msa&ty=f&p=ZC12C_HUMAN&rb=127&re=243&var=L225M	tolerated(0.14)	E9PP00_HUMAN			YES	ZC3H12C,missense_variant,p.Leu194Met,ENST00000453089,;ZC3H12C,missense_variant,p.Leu225Met,ENST00000278590,NM_033390.1;ZC3H12C,missense_variant,p.Leu226Met,ENST00000528673,;							MODERATE	673/2652	L225M	ZC12C_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000278590		CCDS44727.1			1	
ASAP1	0	LGGM	GRCh37	8	131072825	131072825	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	139	6	.	.	ENST00000357668.1:c.3192G>T	p.Thr1064=	p.T1064=	ENST00000357668		1064	acG/acT	0	1		UPI0000351D6E	0		ENST00000518721		ENSG00000153317	2720		145			HGNC	p.T1064T		ASAP1		SNV							ENST00000357668	protein_coding			hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF192,Superfamily_domains:SSF50044		T		A		3420/5507				E5RFD9_HUMAN				ASAP1,splice_region_variant,p.=,ENST00000357668,;ASAP1,splice_region_variant,p.=,ENST00000518721,NM_001247996.1,NM_018482.3;ASAP1,splice_region_variant,p.=,ENST00000524124,;ASAP1,splice_region_variant,p.=,ENST00000519483,;ASAP1,splice_region_variant,,ENST00000521075,;							LOW	3192/3390		ASAP1_HUMAN			Transcript			.	ENSP00000429900		CCDS6362.1			1	
TTN	0	LGGM	GRCh37	2	179458592	179458592	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	96	6	.	.	ENST00000589042.1:c.58435C>A	p.Arg19479Ser	p.R19479S	ENST00000589042	NM_001267550.1	19479	Cgt/Agt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=17836&to=17840&var=R17838S	ENST00000591111		ENSG00000155657	12403		102	2.32		HGNC	p.R10539S		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179458592,G,T&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265		R/S		T	medium	53737/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=17806&re=17870&var=R17838S		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg19479Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg17838Ser,ENST00000591111,;TTN,missense_variant,p.Arg16911Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg10606Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg10539Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg10414Ser,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,;							MODERATE	53512/103053	R17838S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PRKDC	0	LGGM	GRCh37	8	48848452	48848452	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	111	6	.	.	ENST00000314191.2:c.1287G>T	p.Glu429Asp	p.E429D	ENST00000314191	NM_006904.6	429	gaG/gaT	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		117			HGNC	p.E429D		PRKDC		SNV			1				ENST00000338368	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Superfamily_domains:SSF48371		E/D		A		1344/13506				F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Glu429Asp,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Glu429Asp,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,downstream_gene_variant,,ENST00000535375,;							MODERATE	1287/12384		PRKDC_HUMAN			Transcript		benign(0.29)	.	ENSP00000313420					1	
PCLO	0	LGGM	GRCh37	7	82580559	82580559	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	67	6	.	.	ENST00000333891.9:c.9345G>T	p.Val3115=	p.V3115=	ENST00000333891	NM_033026.5	3115	gtG/gtT	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		73			HGNC	p.V3115V		PCLO		SNV			1				ENST00000333891	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		V		A		9683/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							LOW	9345/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
APOBEC1	0	LGGM	GRCh37	12	7807211	7807211	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	22	6	.	.	ENST00000229304.4:c.34C>A	p.Pro12Thr	p.P12T	ENST00000229304	NM_001644.3	12	Ccc/Acc	0	1	1	UPI000013C8F4	0	NA	ENST00000229304		ENSG00000111701	604		28	1.15		HGNC	p.P12T		APOBEC1		SNV							ENST00000229304	protein_coding	getma.org/?cm=var&var=hg19,12,7807211,G,T&fts=all		hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF3		P/T		T	low	55/879		getma.org/?cm=msa&ty=f&p=ABEC1_HUMAN&rb=1&re=46&var=P12T	tolerated(0.29)				YES	APOBEC1,missense_variant,p.Pro12Thr,ENST00000229304,NM_001644.3;APOBEC1,intron_variant,,ENST00000467171,;							MODERATE	34/711	P12T	ABEC1_HUMAN			Transcript		benign(0.008)	.	ENSP00000229304		CCDS8579.1			1	
RNF180	0	LGGM	GRCh37	5	63509624	63509624	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	82	6	.	.	ENST00000389100.4:c.471C>A	p.Gly157=	p.G157=	ENST00000389100	NM_001113561.1	157	ggC/ggA	0	1	1	UPI0000141201	0		ENST00000389100		ENSG00000164197	27752		88			HGNC	p.G157G		RNF180		SNV							ENST00000389100	protein_coding			hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF5		G		A		543/4906				D6RE88_HUMAN			YES	RNF180,synonymous_variant,p.=,ENST00000389100,NM_001113561.1;RNF180,synonymous_variant,p.=,ENST00000296615,NM_178532.3;RNF180,intron_variant,,ENST00000381081,;RNF180,downstream_gene_variant,,ENST00000504296,;							LOW	471/1779		RN180_HUMAN			Transcript			.	ENSP00000373752		CCDS47219.1			1	
MRPL37	0	LGGM	GRCh37	1	54670970	54670970	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	88	6	.	.	ENST00000360840.5:c.533C>A	p.Pro178Gln	p.P178Q	ENST00000360840	NM_016491.3	178	cCg/cAg	0	1	1	UPI000006CF76	0	NA	ENST00000360840		ENSG00000116221	14034		94	1.87		HGNC	p.P178Q		MRPL37		SNV							ENST00000360840	protein_coding	getma.org/?cm=var&var=hg19,1,54670970,C,A&fts=all		hmmpanther:PTHR15889,hmmpanther:PTHR15889:SF1,Pfam_domain:PF07147		P/Q		A	low	610/1478		getma.org/?cm=msa&ty=f&p=RM37_HUMAN&rb=89&re=422&var=P178Q	tolerated(0.14)				YES	MRPL37,missense_variant,p.Pro178Gln,ENST00000605337,;MRPL37,missense_variant,p.Pro178Gln,ENST00000360840,NM_016491.3;MRPL37,intron_variant,,ENST00000336230,;MRPL37,upstream_gene_variant,,ENST00000398219,;MRPL37,splice_region_variant,,ENST00000487096,;MRPL37,splice_region_variant,,ENST00000490670,;							MODERATE	533/1272	P178Q	RM37_HUMAN			Transcript		possibly_damaging(0.527)	.	ENSP00000354086		CCDS589.1			1	
ZNF655	0	LGGM	GRCh37	7	99169413	99169413	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	75	6	.	.	ENST00000424881.1:c.239C>A	p.Ser80Ter	p.S80*	ENST00000424881	NM_001085368.1	80	tCa/tAa	0	1		UPI0000070B32	0	NA	ENST00000252713		ENSG00000197343	30899		81	0		HGNC	p.S80X		ZNF655		SNV							ENST00000427931	protein_coding	getma.org/?cm=var&var=hg19,7,99169413,C,A&fts=all						A	NA	-/2535		NA		Q68DU4_HUMAN				ZNF655,stop_gained,p.Ser80Ter,ENST00000424881,NM_001085368.1,NM_001083956.1;ZNF655,stop_gained,p.Ser80Ter,ENST00000493277,;ZNF655,stop_gained,p.Ser80Ter,ENST00000422164,;ZNF655,stop_gained,p.Ser80Ter,ENST00000422647,;ZNF655,stop_gained,p.Ser80Ter,ENST00000427931,;ZNF655,splice_region_variant,,ENST00000425063,;ZNF655,intron_variant,,ENST00000394163,NM_001009960.1,NM_138494.2;ZNF655,intron_variant,,ENST00000252713,;ZNF655,downstream_gene_variant,,ENST00000454654,;ZNF655,downstream_gene_variant,,ENST00000449244,;ZNF655,splice_region_variant,,ENST00000419215,;GS1-259H13.10,intron_variant,,ENST00000486324,;ZNF655,splice_region_variant,,ENST00000494357,;ZNF655,splice_region_variant,,ENST00000412636,;GS1-259H13.10,intron_variant,,ENST00000455905,;ZNF655,downstream_gene_variant,,ENST00000493947,;							MODIFIER	-/1476	S151*	ZN655_HUMAN			Transcript			.	ENSP00000252713		CCDS5669.1			1	
GSAP	0	LGGM	GRCh37	7	76984686	76984686	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	6	.	.	ENST00000257626.7:c.1182G>T	p.Leu394=	p.L394=	ENST00000257626	NM_017439.3	394	ctG/ctT	0	1	1	UPI000015FEE3	0		ENST00000257626		ENSG00000186088	28042		78			HGNC	p.L394L		GSAP		SNV							ENST00000257626	protein_coding			hmmpanther:PTHR13630,hmmpanther:PTHR13630:SF1		L		A		1261/3251				B7ZL33_HUMAN			YES	GSAP,synonymous_variant,p.=,ENST00000257626,NM_017439.3;GSAP,upstream_gene_variant,,ENST00000434084,;GSAP,non_coding_transcript_exon_variant,,ENST00000449779,;GSAP,non_coding_transcript_exon_variant,,ENST00000334003,;							LOW	1182/2565		GSAP_HUMAN			Transcript			.	ENSP00000257626		CCDS34672.2			1	
ANGPTL5	0	LGGM	GRCh37	11	101765653	101765653	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	71	6	.	.	ENST00000334289.3:c.804G>T	p.Thr268=	p.T268=	ENST00000334289	NM_178127.4	268	acG/acT	0	1	1	UPI000015F945	0		ENST00000334289		ENSG00000187151	19705		77			HGNC	p.T268T		ANGPTL5		SNV							ENST00000334289	protein_coding			Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF185,SMART_domains:SM00186,Superfamily_domains:SSF56496		T		A		1400/2368							YES	ANGPTL5,synonymous_variant,p.=,ENST00000334289,NM_178127.4;ANGPTL5,downstream_gene_variant,,ENST00000534527,;							LOW	804/1167		ANGL5_HUMAN			Transcript			.	ENSP00000335255		CCDS8312.1			1	
IFT27	0	LGGM	GRCh37	22	37163893	37163893	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	83	6	.	.	ENST00000433985.2:c.48G>T	p.Val16=	p.V16=	ENST00000433985	NM_001177701.2	16	gtG/gtT	0	1	1	UPI000013314C	0		ENST00000433985		ENSG00000100360	18626		89			HGNC	p.V16V		IFT27		SNV			1				ENST00000433985	protein_coding			PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF386,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Superfamily_domains:SSF52540,Prints_domain:PR00449		V		A		469/1090				E9PE51_HUMAN,B1AH56_HUMAN			YES	IFT27,synonymous_variant,p.=,ENST00000340630,NM_006860.4;IFT27,synonymous_variant,p.=,ENST00000433985,NM_001177701.2;IFT27,synonymous_variant,p.=,ENST00000417951,;IFT27,synonymous_variant,p.=,ENST00000430701,;IFT27,5_prime_UTR_variant,,ENST00000440696,;IFT27,5_prime_UTR_variant,,ENST00000453009,;IFT27,downstream_gene_variant,,ENST00000476548,;IFT27,non_coding_transcript_exon_variant,,ENST00000471809,;IFT27,non_coding_transcript_exon_variant,,ENST00000465023,;IFT27,upstream_gene_variant,,ENST00000495555,;IFT27,upstream_gene_variant,,ENST00000415653,;							LOW	48/561		IFT27_HUMAN			Transcript			.	ENSP00000393541		CCDS54523.1			1	
LRP5L	0	LGGM	GRCh37	22	25753285	25753285	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	6	.	.	ENST00000402859.2:c.375C>T	p.Gly125=	p.G125=	ENST00000402859	NM_001135772.1	125	ggC/ggT	0	1		UPI000006DF62	0		ENST00000402785		ENSG00000100068	25323		19			HGNC	p.G125G		LRP5L		SNV							ENST00000402859	protein_coding			Superfamily_domains:SSF63825,SMART_domains:SM00135,Pfam_domain:PF00058,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		G		A		472/1193								LRP5L,synonymous_variant,p.=,ENST00000444995,;LRP5L,synonymous_variant,p.=,ENST00000402859,NM_001135772.1;LRP5L,synonymous_variant,p.=,ENST00000402785,;LRP5L,downstream_gene_variant,,ENST00000468442,;LRP5L,3_prime_UTR_variant,,ENST00000474163,;LRP5L,non_coding_transcript_exon_variant,,ENST00000467672,;LRP5L,non_coding_transcript_exon_variant,,ENST00000484509,;							LOW	375/759		LRP5L_HUMAN			Transcript			.	ENSP00000384562		CCDS33626.1			1	
ERC2	0	LGGM	GRCh37	3	55733412	55733412	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	89	6	.	.	ENST00000288221.6:c.2841G>T	p.Pro947=	p.P947=	ENST00000288221	NM_015576.1	947	ccG/ccT	0	1	1	UPI00001C1572	0		ENST00000288221		ENSG00000187672	31922		95			HGNC	p.P947P		ERC2		SNV							ENST00000288221	protein_coding					P		A		3097/6138							YES	ERC2,synonymous_variant,p.=,ENST00000288221,NM_015576.1;ERC2,non_coding_transcript_exon_variant,,ENST00000468118,;ERC2,non_coding_transcript_exon_variant,,ENST00000487287,;ERC2,synonymous_variant,p.=,ENST00000460849,;							LOW	2841/2874		ERC2_HUMAN			Transcript			.	ENSP00000288221		CCDS46851.1			1	
MEGF9	0	LGGM	GRCh37	9	123385029	123385029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	87	6	.	.	ENST00000373930.3:c.808G>T	p.Gly270Trp	p.G270W	ENST00000373930	NM_001080497.2	270	Ggg/Tgg	0	1	1	UPI000045779F	0	NA	ENST00000373930		ENSG00000106780	3234		93	4.415		HGNC	p.G307W		MEGF9		SNV							ENST00000426959	protein_coding	getma.org/?cm=var&var=hg19,9,123385029,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,Prints_domain:PR00011,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196		G/W		A	high	920/6298		getma.org/?cm=msa&ty=f&p=MEGF9_HUMAN&rb=254&re=298&var=G270W	deleterious(0)				YES	MEGF9,missense_variant,p.Gly270Trp,ENST00000373930,NM_001080497.2;MEGF9,missense_variant,p.Gly307Trp,ENST00000426959,;							MODERATE	808/1809	G270W	MEGF9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363040		CCDS48010.2			1	
GGCX	0	LGGM	GRCh37	2	85779634	85779634	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	72	6	.	.	ENST00000233838.4:c.1344C>A	p.Ala448=	p.A448=	ENST00000233838	NM_000821.5	448	gcC/gcA	0	1	1	UPI0000000DD6	0		ENST00000233838		ENSG00000115486	4247		78			HGNC	p.A448A		GGCX		SNV			1				ENST00000233838	protein_coding			hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639,Pfam_domain:PF05090		A		T		1425/7569							YES	GGCX,synonymous_variant,p.=,ENST00000233838,NM_000821.5;GGCX,synonymous_variant,p.=,ENST00000430215,NM_001142269.2;GGCX,non_coding_transcript_exon_variant,,ENST00000473665,;GGCX,intron_variant,,ENST00000465637,;GGCX,downstream_gene_variant,,ENST00000482662,;GGCX,downstream_gene_variant,,ENST00000423570,;GGCX,downstream_gene_variant,,ENST00000421496,;GGCX,downstream_gene_variant,,ENST00000428479,;							LOW	1344/2277		VKGC_HUMAN			Transcript			.	ENSP00000233838		CCDS1978.1			1	
GEMIN5	0	LGGM	GRCh37	5	154271275	154271275	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	6	.	.	ENST00000285873.7:c.3788G>A	p.Gly1263Glu	p.G1263E	ENST00000285873	NM_001252156.1	1263	gGg/gAg	0	1	1	UPI000020D072	0	NA	ENST00000285873		ENSG00000082516	20043		38	1.39		HGNC	p.G1263E	rs764702803	GEMIN5		SNV							ENST00000285873	protein_coding	getma.org/?cm=var&var=hg19,5,154271275,C,T&fts=all				G/E		T	low	3864/5397	1.54E-05	getma.org/?cm=msa&ty=f&p=GEMI5_HUMAN&rb=729&re=1505&var=G1263E	tolerated(0.19)	Q58EZ8_HUMAN			YES	GEMIN5,missense_variant,p.Gly1263Glu,ENST00000285873,NM_001252156.1,NM_015465.4;GEMIN5,non_coding_transcript_exon_variant,,ENST00000522075,;							MODERATE	3788/4527	G1263E	GEMI5_HUMAN			Transcript		benign(0.371)	.	ENSP00000285873	8.24E-06	CCDS4330.1			1	
NCAM1	0	LGGM	GRCh37	11	113078076	113078076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	6	.	.	ENST00000524665.1:c.899C>A	p.Pro300Gln	p.P300Q	ENST00000524665	NM_000615.6	300	cCa/cAa	0	1		UPI0002065586	0		ENST00000316851		ENSG00000149294	7656		34			HGNC	p.P240Q		NCAM1		SNV							ENST00000401611	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF34,hmmpanther:PTHR10489,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/Q		A		692/5571			deleterious(0)					NCAM1,missense_variant,p.Pro231Gln,ENST00000316851,NM_181351.4,NM_001242607.1;NCAM1,missense_variant,p.Pro123Gln,ENST00000533760,NM_001242608.1;NCAM1,missense_variant,p.Pro300Gln,ENST00000524665,NM_000615.6;NCAM1,missense_variant,p.Pro286Gln,ENST00000534015,NM_001076682.3;NCAM1,missense_variant,p.Pro240Gln,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,intron_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,downstream_gene_variant,,ENST00000525973,;NCAM1,downstream_gene_variant,,ENST00000529356,;							MODERATE	692/2547					Transcript		probably_damaging(0.999)	.	ENSP00000318472					1	
SCN2A	0	LGGM	GRCh37	2	166201323	166201323	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	122	6	.	.	ENST00000357398.3:c.2821G>T	p.Gly941Ter	p.G941*	ENST00000357398		941	Gga/Tga	0	1		UPI00001279C9	0	NA	ENST00000283256		ENSG00000136531	10588		128	0		HGNC	p.G941X		SCN2A		SNV			1				ENST00000357398	protein_coding	getma.org/?cm=var&var=hg19,2,166201323,G,T&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Superfamily_domains:SSF81324		G/*		T	NA	2977/8403		NA		F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,stop_gained,p.Gly941Ter,ENST00000357398,;SCN2A,stop_gained,p.Gly941Ter,ENST00000375437,NM_001040142.1;SCN2A,stop_gained,p.Gly941Ter,ENST00000283256,NM_021007.2;SCN2A,stop_gained,p.Gly941Ter,ENST00000375427,NM_001040143.1;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;							HIGH	2821/6018	G941*	SCN2A_HUMAN			Transcript			.	ENSP00000283256		CCDS33314.1			1	
ZNF619	0	LGGM	GRCh37	3	40524120	40524120	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	32	6	.	.	ENST00000447116.2:c.340G>A	p.Glu114Lys	p.E114K	ENST00000447116	NM_001145082.2	114	Gag/Aag	0	1		UPI000006CCD4	0	NA	ENST00000314686		ENSG00000177873	26910		38	2.115		HGNC	p.E30K		ZNF619		SNV							ENST00000456778	protein_coding	getma.org/?cm=var&var=hg19,3,40524120,G,A&fts=all				G/E		A	medium	527/2233		getma.org/?cm=msa&ty=f&p=B7Z9B3_HUMAN&rb=1&re=162&var=E16K	tolerated_low_confidence(0.2)					ZNF619,missense_variant,p.Glu114Lys,ENST00000447116,NM_001145082.2;ZNF619,missense_variant,p.Glu74Lys,ENST00000429348,NM_001145093.2;ZNF619,missense_variant,p.Gly41Glu,ENST00000314686,;ZNF619,missense_variant,p.Glu30Lys,ENST00000456778,NM_001145083.1;ZNF619,missense_variant,p.Gly41Glu,ENST00000522736,;ZNF619,missense_variant,p.Glu114Lys,ENST00000521353,;ZNF619,missense_variant,p.Glu74Lys,ENST00000432264,;ZNF619,non_coding_transcript_exon_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;ZNF619,downstream_gene_variant,,ENST00000462961,;							MODERATE	122/1683	E16K	ZN619_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000322529					1	
POP1	0	LGGM	GRCh37	8	99170493	99170493	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	85	6	.	.	ENST00000401707.2:c.3069G>T	p.Glu1023Asp	p.E1023D	ENST00000401707	NM_001145860.1	1023	gaG/gaT	0	1		UPI0000131F33	0	NA	ENST00000349693		ENSG00000104356	30129		91	1.025		HGNC	p.E1023D		POP1		SNV			1				ENST00000349693	protein_coding	getma.org/?cm=var&var=hg19,8,99170493,G,T&fts=all		hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF3		E/D		T	low	3097/3244		getma.org/?cm=msa&ty=f&p=POP1_HUMAN&rb=909&re=1024&var=E1023D	tolerated(0.13)	E5RK39_HUMAN				POP1,missense_variant,p.Glu1023Asp,ENST00000401707,NM_001145860.1,NM_001145861.1;POP1,missense_variant,p.Glu1023Asp,ENST00000349693,NM_015029.2;POP1,downstream_gene_variant,,ENST00000517435,;							MODERATE	3069/3075	E1023D	POP1_HUMAN			Transcript		benign(0.115)	.	ENSP00000339529		CCDS6277.1			1	
IMPG2	0	LGGM	GRCh37	3	100947650	100947650	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	38	6	.	.	ENST00000193391.7:c.3704A>C	p.Glu1235Ala	p.E1235A	ENST00000193391	NM_016247.3	1235	gAg/gCg	0	1	1	UPI000013C605	0	NA	ENST00000193391		ENSG00000081148	18362		44	1.61		HGNC	p.E1235A		IMPG2		SNV			1				ENST00000193391	protein_coding	getma.org/?cm=var&var=hg19,3,100947650,T,G&fts=all		hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199		E/A		G	low	3892/8337		getma.org/?cm=msa&ty=f&p=IMPG2_HUMAN&rb=1103&re=1235&var=E1235A	deleterious(0)	F1T0J3_HUMAN			YES	IMPG2,missense_variant,p.Glu1235Ala,ENST00000193391,NM_016247.3;							MODERATE	3704/3726	E1235A	IMPG2_HUMAN			Transcript		benign(0.211)	.	ENSP00000193391		CCDS2940.1			1	
CENPF	0	LGGM	GRCh37	1	214819395	214819395	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	103	6	.	.	ENST00000366955.3:c.6482G>T	p.Arg2161Met	p.R2161M	ENST00000366955	NM_016343.3	2161	aGg/aTg	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		109	2.67		HGNC	p.R2161M		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214819395,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874		R/M		T	medium	6650/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=2227&re=2366&var=R2257M					YES	CENPF,missense_variant,p.Arg2161Met,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000467765,;							MODERATE	6482/9345	R2257M	CENPF_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355922		CCDS31023.1			1	
ALOX12	0	LGGM	GRCh37	17	6902643	6902643	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	6	.	.	ENST00000251535.6:c.665G>T	p.Trp222Leu	p.W222L	ENST00000251535	NM_000697.2	222	tGg/tTg	0	1	1	UPI000013CD03	0	getma.org/pdb.php?prot=LOX12_HUMAN&from=121&to=655&var=W222L	ENST00000251535		ENSG00000108839	429		24	3.55		HGNC	p.W222L		ALOX12		SNV			1				ENST00000251535	protein_coding	getma.org/?cm=var&var=hg19,17,6902643,G,T&fts=all		Pfam_domain:PF00305,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF4,Superfamily_domains:SSF48484		W/L		T	high	718/2358		getma.org/?cm=msa&ty=f&p=LOX12_HUMAN&rb=121&re=655&var=W222L	deleterious(0.01)				YES	ALOX12,missense_variant,p.Trp222Leu,ENST00000251535,NM_000697.2;AC027763.2,3_prime_UTR_variant,,ENST00000574377,;AC027763.2,intron_variant,,ENST00000399541,;ALOX12,intron_variant,,ENST00000480801,;AC027763.2,intron_variant,,ENST00000575889,;AC027763.2,downstream_gene_variant,,ENST00000399540,;AC027763.2,downstream_gene_variant,,ENST00000575727,;AC027763.2,downstream_gene_variant,,ENST00000573939,;RP11-589P10.5,upstream_gene_variant,,ENST00000573222,;RP11-589P10.7,intron_variant,,ENST00000572547,;AC027763.2,3_prime_UTR_variant,,ENST00000571010,;AC027763.2,intron_variant,,ENST00000572385,;AC027763.2,intron_variant,,ENST00000570562,;							MODERATE	665/1992	W222L	LOX12_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000251535		CCDS11084.1			1	
EML5	0	LGGM	GRCh37	14	89148376	89148376	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	86	7	.	.	ENST00000554922.1:c.2983-1G>T		p.X995_splice	ENST00000554922	NM_183387.2			0	1		UPI000183882B	0		ENST00000380664		ENSG00000165521	18197		93			HGNC	-		EML5		SNV							ENST00000554922	protein_coding							A		-/5910								EML5,splice_acceptor_variant,,ENST00000554922,NM_183387.2;EML5,splice_acceptor_variant,,ENST00000352093,;EML5,splice_acceptor_variant,,ENST00000380664,;EML5,splice_acceptor_variant,,ENST00000553281,;							HIGH	2983/5910		EMAL5_HUMAN			Transcript			.	ENSP00000370039					1	
ATP10B	0	LGGM	GRCh37	5	160059220	160059220	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	18	7	.	.	ENST00000327245.5:c.1536G>T	p.Arg512=	p.R512=	ENST00000327245	NM_025153.2	512	cgG/cgT	0	1	1	UPI0000191DAE	0		ENST00000327245		ENSG00000118322	13543		25			HGNC	p.R512R		ATP10B		SNV							ENST00000327245	protein_coding			Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		R		A		2383/7566							YES	ATP10B,synonymous_variant,p.=,ENST00000327245,NM_025153.2;ATP10B,synonymous_variant,p.=,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,downstream_gene_variant,,ENST00000326831,;ATP10B,downstream_gene_variant,,ENST00000517802,;ATP10B,downstream_gene_variant,,ENST00000521033,;							LOW	1536/4386		AT10B_HUMAN			Transcript			.	ENSP00000313600		CCDS43394.1			1	
WNT4	0	LGGM	GRCh37	1	22446818	22446818	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	8	7	.	.	ENST00000290167.6:c.781C>A	p.Gln261Lys	p.Q261K	ENST00000290167	NM_030761.4	261	Cag/Aag	0	1	1	UPI0000048EC6	0	getma.org/pdb.php?prot=WNT4_HUMAN&from=42&to=351&var=Q261K	ENST00000290167		ENSG00000162552	12783		15	0.575		HGNC	p.Q206K		WNT4		SNV			1				ENST00000542383	protein_coding	getma.org/?cm=var&var=hg19,1,22446818,G,T&fts=all		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF85,SMART_domains:SM00097		Q/K		T	neutral	825/3845		getma.org/?cm=msa&ty=f&p=WNT4_HUMAN&rb=42&re=351&var=Q261K	tolerated(0.22)	B4DJF9_HUMAN			YES	WNT4,missense_variant,p.Gln261Lys,ENST00000290167,NM_030761.4;WNT4,missense_variant,p.Gln206Lys,ENST00000542383,;							MODERATE	781/1056	Q261K	WNT4_HUMAN			Transcript		benign(0.05)	.	ENSP00000290167		CCDS223.1			1	
GRIK1	0	LGGM	GRCh37	21	30926007	30926007	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	129	7	.	.	ENST00000399907.1:c.2626G>T	p.Gly876Ter	p.G876*	ENST00000399907	NM_000830.3	876	Gga/Tga	0	1	1	UPI000012B612	0	NA	ENST00000399907		ENSG00000171189	4579		136	0		HGNC	p.G878X		GRIK1		SNV							ENST00000309434	protein_coding	getma.org/?cm=var&var=hg19,21,30926007,C,A&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36		G/*		A	NA	3038/3472		NA		Q9UNN1_HUMAN,Q71UA3_HUMAN			YES	GRIK1,stop_gained,p.Gly876Ter,ENST00000399907,NM_000830.3;GRIK1,stop_gained,p.Gly861Ter,ENST00000399909,;GRIK1,stop_gained,p.Gly878Ter,ENST00000309434,;GRIK1,intron_variant,,ENST00000399914,;GRIK1,intron_variant,,ENST00000399913,;GRIK1,intron_variant,,ENST00000327783,;GRIK1,intron_variant,,ENST00000389125,NM_175611.2;GRIK1,intron_variant,,ENST00000535441,;GRIK1,intron_variant,,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;							HIGH	2626/2757	G876*	GRIK1_HUMAN			Transcript			.	ENSP00000382791		CCDS42913.1			1	
OR2M2	0	LGGM	GRCh37	1	248343938	248343938	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	131	7	.	.	ENST00000359682.2:c.651C>A	p.Ser217=	p.S217=	ENST00000359682	NM_001004688.1	217	tcC/tcA	0	1	1	UPI00001612E4	0		ENST00000359682		ENSG00000198601	8268		138			HGNC	p.S217S		OR2M2		SNV							ENST00000359682	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF204,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		S		A		651/1044							YES	OR2M2,synonymous_variant,p.=,ENST00000359682,NM_001004688.1;							LOW	651/1044		OR2M2_HUMAN			Transcript			.	ENSP00000352710		CCDS31106.1			1	
STK36	0	LGGM	GRCh37	2	219563781	219563781	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	13	7	.	.	ENST00000295709.3:c.3514G>A	p.Ala1172Thr	p.A1172T	ENST00000295709	NM_015690.4	1172	Gcc/Acc	0	1	1	UPI00000342FC	0	NA	ENST00000295709		ENSG00000163482	17209		20	2.8		HGNC	p.A1172T		STK36		SNV							ENST00000295709	protein_coding	getma.org/?cm=var&var=hg19,2,219563781,G,A&fts=all		hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983,Gene3D:1.25.10.10,Pfam_domain:PF13646,Superfamily_domains:SSF48371		A/T		A	medium	3793/4933		getma.org/?cm=msa&ty=f&p=STK36_HUMAN&rb=1107&re=1306&var=A1172T	deleterious(0)	C9JDA4_HUMAN,C9J1B8_HUMAN			YES	STK36,missense_variant,p.Ala1172Thr,ENST00000295709,NM_015690.4;STK36,missense_variant,p.Ala1151Thr,ENST00000392106,;STK36,missense_variant,p.Ala1151Thr,ENST00000392105,NM_001243313.1;STK36,missense_variant,p.Ala1172Thr,ENST00000440309,;STK36,3_prime_UTR_variant,,ENST00000419433,;STK36,downstream_gene_variant,,ENST00000486644,;STK36,downstream_gene_variant,,ENST00000492486,;STK36,downstream_gene_variant,,ENST00000462031,;STK36,downstream_gene_variant,,ENST00000473681,;							MODERATE	3514/3948	A1172T	STK36_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295709		CCDS2421.1			1	
MLH1	0	LGGM	GRCh37	3	37070324	37070324	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	158	7	.	.	ENST00000231790.2:c.1459C>A	p.Arg487=	p.R487=	ENST00000231790	NM_000249.3	487	Cga/Aga	0	1	1	UPI0000000C7E	0		ENST00000231790		ENSG00000076242	7127		165			HGNC	p.R246R		MLH1		SNV			1				ENST00000458205	protein_coding			hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF12		R		A		1675/2752				Q5GJ64_HUMAN,F2Z298_HUMAN,E7EUC9_HUMAN,C4PFY8_HUMAN,B7Z821_HUMAN,A8W2I7_HUMAN			YES	MLH1,synonymous_variant,p.=,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,synonymous_variant,p.=,ENST00000458205,NM_001258274.1;MLH1,synonymous_variant,p.=,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,synonymous_variant,p.=,ENST00000539477,NM_001167619.1;MLH1,synonymous_variant,p.=,ENST00000536378,;MLH1,synonymous_variant,p.=,ENST00000455445,;MLH1,synonymous_variant,p.=,ENST00000456676,NM_001258271.1;MLH1,synonymous_variant,p.=,ENST00000413740,;MLH1,synonymous_variant,p.=,ENST00000450420,;MLH1,3_prime_UTR_variant,,ENST00000413212,;MLH1,3_prime_UTR_variant,,ENST00000458009,;MLH1,downstream_gene_variant,,ENST00000447829,;							LOW	1459/2271		MLH1_HUMAN			Transcript			.	ENSP00000231790		CCDS2663.1			1	
CST7	0	LGGM	GRCh37	20	24937934	24937934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	151	7	.	.	ENST00000480798.1:c.82C>A	p.Gln28Lys	p.Q28K	ENST00000480798	NM_003650.3	28	Cag/Aag	0	1	1	UPI0000001CA0	0	NA	ENST00000480798		ENSG00000077984	2479		158	0.425		HGNC	p.Q50K		CST7		SNV							ENST00000376835	protein_coding	getma.org/?cm=var&var=hg19,20,24937934,C,A&fts=all		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF8		Q/K		A	neutral	358/930		getma.org/?cm=msa&ty=f&p=CYTF_HUMAN&rb=1&re=36&var=Q28K	tolerated(0.2)				YES	CST7,missense_variant,p.Gln28Lys,ENST00000480798,NM_003650.3;CST7,missense_variant,p.Gln50Lys,ENST00000376835,;							MODERATE	82/438	Q28K	CYTF_HUMAN			Transcript		benign(0.001)	.	ENSP00000420384		CCDS13165.2			1	
FASTKD1	0	LGGM	GRCh37	2	170394547	170394547	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	145	7	.	.	ENST00000453153.2:c.2050C>A	p.Arg684Ser	p.R684S	ENST00000453153	NM_024622.4	684	Cgc/Agc	0	1	1	UPI000050BC4D	0	NA	ENST00000453153		ENSG00000138399	26150		152	1.4		HGNC	p.R684S		FASTKD1		SNV							ENST00000453153	protein_coding	getma.org/?cm=var&var=hg19,2,170394547,G,T&fts=all		Pfam_domain:PF08368,hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF29		R/S		T	low	2397/2967		getma.org/?cm=msa&ty=f&p=FAKD1_HUMAN&rb=657&re=743&var=R684S	deleterious(0.03)	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN			YES	FASTKD1,missense_variant,p.Arg684Ser,ENST00000453153,NM_024622.4;FASTKD1,intron_variant,,ENST00000453929,NM_001281476.1;FASTKD1,non_coding_transcript_exon_variant,,ENST00000495505,;FASTKD1,intron_variant,,ENST00000490590,;FASTKD1,non_coding_transcript_exon_variant,,ENST00000488516,;							MODERATE	2050/2544	R684S	FAKD1_HUMAN			Transcript		benign(0.102)	.	ENSP00000400513		CCDS33318.1			1	
RHOBTB3	0	LGGM	GRCh37	5	95128852	95128852	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	124	7	.	.	ENST00000379982.3:c.1810C>A	p.Arg604=	p.R604=	ENST00000379982	NM_014899.3	604	Cgg/Agg	0	1	1	UPI0000367303	0		ENST00000379982		ENSG00000164292	18757		131			HGNC	p.R235R		RHOBTB3		SNV							ENST00000504179	protein_coding					R		A		2318/5537							YES	RHOBTB3,synonymous_variant,p.=,ENST00000379982,NM_014899.3;RHOBTB3,synonymous_variant,p.=,ENST00000504179,;RHOBTB3,synonymous_variant,p.=,ENST00000503737,;RHOBTB3,3_prime_UTR_variant,,ENST00000514198,;RHOBTB3,intron_variant,,ENST00000513091,;GLRX,intron_variant,,ENST00000508780,;RHOBTB3,downstream_gene_variant,,ENST00000510313,;GLRX,intron_variant,,ENST00000507605,;RHOBTB3,downstream_gene_variant,,ENST00000511558,;							LOW	1810/1836		RHBT3_HUMAN			Transcript			.	ENSP00000369318		CCDS4077.1			1	
BBS7	0	LGGM	GRCh37	4	122780244	122780244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	74	7	.	.	ENST00000264499.4:c.431G>T	p.Gly144Val	p.G144V	ENST00000264499	NM_176824.2	144	gGg/gTg	0	1	1	UPI00001684D7	0	NA	ENST00000264499		ENSG00000138686	18758		81	2.33		HGNC	p.G144V		BBS7		SNV			1				ENST00000264499	protein_coding	getma.org/?cm=var&var=hg19,4,122780244,C,A&fts=all		hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,Gene3D:2.130.10.10,PIRSF_domain:PIRSF011091,Superfamily_domains:SSF50978		G/V		A	medium	615/3752		getma.org/?cm=msa&ty=f&p=BBS7_HUMAN&rb=12&re=710&var=G144V	tolerated(0.07)	H0Y973_HUMAN			YES	BBS7,missense_variant,p.Gly144Val,ENST00000264499,NM_176824.2;BBS7,missense_variant,p.Gly144Val,ENST00000506636,NM_018190.3;BBS7,non_coding_transcript_exon_variant,,ENST00000505692,;BBS7,downstream_gene_variant,,ENST00000502444,;BBS7,upstream_gene_variant,,ENST00000508536,;							MODERATE	431/2148	G144V	BBS7_HUMAN			Transcript		benign(0.076)	.	ENSP00000264499		CCDS3724.1			1	
TRAF5	0	LGGM	GRCh37	1	211526770	211526770	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	5	7	.	.	ENST00000261464.5:c.189C>T	p.Arg63=	p.R63=	ENST00000261464	NM_001033910.2	63	cgC/cgT	0	1	1	UPI0000070955	0		ENST00000261464		ENSG00000082512	12035		12			HGNC	p.R63R		TRAF5		SNV							ENST00000427925	protein_coding			PROSITE_profiles:PS50089,hmmpanther:PTHR10131:SF66,hmmpanther:PTHR10131,PROSITE_patterns:PS00518,Gene3D:3.30.40.10,Pfam_domain:PF00097,PIRSF_domain:PIRSF015614,SMART_domains:SM00184,Superfamily_domains:SSF57850		R		T		243/3972				D3DT93_HUMAN,B4E0A2_HUMAN,B3KX26_HUMAN			YES	TRAF5,synonymous_variant,p.=,ENST00000336184,NM_004619.3;TRAF5,synonymous_variant,p.=,ENST00000261464,NM_001033910.2;TRAF5,synonymous_variant,p.=,ENST00000367004,NM_145759.2;TRAF5,synonymous_variant,p.=,ENST00000427925,;TRAF5,non_coding_transcript_exon_variant,,ENST00000462410,;TRAF5,non_coding_transcript_exon_variant,,ENST00000488428,;TRAF5,non_coding_transcript_exon_variant,,ENST00000494355,;							LOW	189/1674		TRAF5_HUMAN			Transcript			.	ENSP00000261464		CCDS1497.1			1	
TTN	0	LGGM	GRCh37	2	179403831	179403831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	77	7	.	.	ENST00000589042.1:c.98831G>T	p.Trp32944Leu	p.W32944L	ENST00000589042	NM_001267550.1	32944	tGg/tTg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=31257&to=31343&var=W31303L	ENST00000591111		ENSG00000155657	12403		84	3.95		HGNC	p.W24004L		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179403831,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		W/L		A	high	94133/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=31257&re=31343&var=W31303L		C9JQJ2_HUMAN				TTN,missense_variant,p.Trp32944Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Trp31303Leu,ENST00000591111,;TTN,missense_variant,p.Trp30376Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Trp24071Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Trp24004Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Trp23879Leu,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;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,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000442329,;TTN-AS1,downstream_gene_variant,,ENST00000588257,;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,;TTN-AS1,upstream_gene_variant,,ENST00000590932,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000589842,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;							MODERATE	93908/103053	W31303L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FLG	0	LGGM	GRCh37	1	152285231	152285231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	145	7	.	.	ENST00000368799.1:c.2131C>A	p.Arg711Ser	p.R711S	ENST00000368799	NM_002016.1	711	Cgc/Agc	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		152	1.59		HGNC	p.R711S		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152285231,G,T&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516		R/S		T	low	2167/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=698&re=753&var=R711S		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Arg711Ser,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							MODERATE	2131/12186	R711S	FILA_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000357789		CCDS30860.1			1	
ARID4A	0	LGGM	GRCh37	14	58832918	58832918	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	138	7	.	.	ENST00000355431.3:c.3493C>A	p.Pro1165Thr	p.P1165T	ENST00000355431	NM_002892.3	1165	Cct/Act	0	1	1	UPI000013FD01	0	NA	ENST00000355431		ENSG00000032219	9885		145	2.28		HGNC	p.P1165T		ARID4A		SNV							ENST00000355431	protein_coding	getma.org/?cm=var&var=hg19,14,58832918,C,A&fts=all		hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF1		P/T		A	medium	3866/5891		getma.org/?cm=msa&ty=f&p=ARI4A_HUMAN&rb=1031&re=1230&var=P1165T	deleterious(0)	H7C485_HUMAN,C9JIF4_HUMAN			YES	ARID4A,missense_variant,p.Pro1165Thr,ENST00000355431,NM_002892.3;ARID4A,intron_variant,,ENST00000431317,;ARID4A,intron_variant,,ENST00000348476,NM_023001.2,NM_023000.2;ARID4A,intron_variant,,ENST00000395168,;ARID4A,downstream_gene_variant,,ENST00000417477,;RP11-517O13.3,downstream_gene_variant,,ENST00000556390,;ARID4A,intron_variant,,ENST00000466065,;							MODERATE	3493/3774	P1165T	ARI4A_HUMAN			Transcript		possibly_damaging(0.743)	.	ENSP00000347602		CCDS9732.1			1	
PTCHD4	0	LGGM	GRCh37	6	47976806	47976806	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	111	7	.	.	ENST00000339488.4:c.471G>T	p.Val157=	p.V157=	ENST00000339488	NM_001013732.3	157	gtG/gtT	0	1	1	UPI000179A8D3	0		ENST00000339488		ENSG00000244694	21345		118			HGNC	p.V140V		PTCHD4		SNV							ENST00000543600	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460		V		A		505/2850				B2RPC0_HUMAN			YES	PTCHD4,synonymous_variant,p.=,ENST00000398738,NM_207499.2;PTCHD4,synonymous_variant,p.=,ENST00000543600,;PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;							LOW	471/2541		PTHD4_HUMAN			Transcript			.	ENSP00000341914		CCDS34473.2			1	
NBPF9	0	LGGM	GRCh37	1	144816652	144816652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	160	8	.	.	ENST00000375552.4:c.781G>T	p.Arg261Leu	p.R261L	ENST00000375552	NM_001277444.1	261	cGg/cTg	0	1	1	UPI000059D038	0		ENST00000375552		ENSG00000168614	31991		168			HGNC	p.R262L		NBPF9		SNV							ENST00000338347	protein_coding			PROSITE_profiles:PS51316,hmmpanther:PTHR14199		R/L		T		781/3680			tolerated(0.21)	Q5TB04_HUMAN,I1VE14_HUMAN			YES	NBPF9,missense_variant,p.Arg261Leu,ENST00000375552,NM_001277444.1,NM_001037675.3;NBPF9,missense_variant,p.Arg262Leu,ENST00000440491,;NBPF9,missense_variant,p.Arg262Leu,ENST00000338347,;NBPF9,5_prime_UTR_variant,,ENST00000281815,;NBPF9,non_coding_transcript_exon_variant,,ENST00000468645,;NBPF9,non_coding_transcript_exon_variant,,ENST00000496755,;NBPF9,non_coding_transcript_exon_variant,,ENST00000491652,;NBPF9,non_coding_transcript_exon_variant,,ENST00000471873,;NBPF9,non_coding_transcript_exon_variant,,ENST00000472811,;NBPF9,non_coding_transcript_exon_variant,,ENST00000484811,;NBPF9,upstream_gene_variant,,ENST00000488888,;NBPF9,downstream_gene_variant,,ENST00000483630,;NBPF9,downstream_gene_variant,,ENST00000465793,;							MODERATE	782/2052					Transcript		benign(0.042)	.	ENSP00000364702					1	
ITFG2	0	LGGM	GRCh37	12	2927362	2927362	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	8	.	.	ENST00000228799.2:c.325A>G	p.Thr109Ala	p.T109A	ENST00000228799	NM_018463.3	109	Aca/Gca	0	1	1	UPI00000373A8	0	NA	ENST00000228799		ENSG00000111203	30879		23	1.01		HGNC	p.T109A		ITFG2		SNV							ENST00000228799	protein_coding	getma.org/?cm=var&var=hg19,12,2927362,A,G&fts=all		hmmpanther:PTHR16317,Superfamily_domains:SSF50978,Superfamily_domains:SSF69318		T/A		G	low	464/2361		getma.org/?cm=msa&ty=f&p=ITFG2_HUMAN&rb=49&re=445&var=T109A	tolerated(0.87)	H0YFM4_HUMAN,E7EST0_HUMAN			YES	ITFG2,missense_variant,p.Thr109Ala,ENST00000228799,NM_018463.3;ITFG2,5_prime_UTR_variant,,ENST00000542548,;ITFG2,intron_variant,,ENST00000419778,;ITFG2,intron_variant,,ENST00000535564,;ITFG2,missense_variant,p.Thr109Ala,ENST00000540929,;ITFG2,non_coding_transcript_exon_variant,,ENST00000543029,;ITFG2,non_coding_transcript_exon_variant,,ENST00000541659,;ITFG2,intron_variant,,ENST00000537851,;ITFG2,upstream_gene_variant,,ENST00000537183,;ITFG2,upstream_gene_variant,,ENST00000534935,;							MODERATE	325/1344	T109A	ITFG2_HUMAN			Transcript		benign(0.001)	.	ENSP00000228799		CCDS8513.1			1	
TBC1D20	0	LGGM	GRCh37	20	422527	422527	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	19	8	.	.	ENST00000354200.4:c.498A>G	p.Val166=	p.V166=	ENST00000354200	NM_144628.2	166	gtA/gtG	0	1	1	UPI000006D549	0		ENST00000354200		ENSG00000125875	16133		27			HGNC	p.V166V		TBC1D20		SNV			1				ENST00000461304	protein_coding			PROSITE_profiles:PS50086,hmmpanther:PTHR20913:SF10,hmmpanther:PTHR20913,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923		V		C		646/4466				B9A6M1_HUMAN			YES	TBC1D20,synonymous_variant,p.=,ENST00000354200,NM_144628.2;TBC1D20,non_coding_transcript_exon_variant,,ENST00000461188,;TBC1D20,non_coding_transcript_exon_variant,,ENST00000494633,;TBC1D20,synonymous_variant,p.=,ENST00000461304,;							LOW	498/1212		TBC20_HUMAN			Transcript			.	ENSP00000346139		CCDS13002.1			1	
SI	0	LGGM	GRCh37	3	164748500	164748500	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	144	8	.	.	ENST00000264382.3:c.2892G>T	p.Thr964=	p.T964=	ENST00000264382	NM_001041.3	964	acG/acT	0	1	1	UPI000022C287	0		ENST00000264382		ENSG00000090402	10856		152			HGNC	p.T964T		SI		SNV			1				ENST00000264382	protein_coding			Superfamily_domains:SSF74650,Superfamily_domains:SSF57492,SMART_domains:SM00018,Pfam_domain:PF00088,Gene3D:4.10.110.10,PROSITE_profiles:PS51448		T		A		2955/6011							YES	SI,splice_region_variant,p.=,ENST00000264382,NM_001041.3;							LOW	2892/5484		SUIS_HUMAN			Transcript			.	ENSP00000264382		CCDS3196.1			1	
SACS	0	LGGM	GRCh37	13	23905082	23905082	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	54	10	.	.	ENST00000382298.3:c.12933A>G	p.Thr4311=	p.T4311=	ENST00000382298	NM_014363.5	4311	acA/acG	0	1		UPI000047039D	0		ENST00000382292		ENSG00000151835	10519		64			HGNC	p.T4311T		SACS		SNV			1				ENST00000382292	protein_coding			PROSITE_profiles:PS50076,hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600,Gene3D:1.10.287.110,Superfamily_domains:SSF46565		T		C		13207/15324								SACS,synonymous_variant,p.=,ENST00000382298,NM_014363.5;SACS,synonymous_variant,p.=,ENST00000382292,;SACS,synonymous_variant,p.=,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							LOW	12933/13740		SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
NCKAP1	0	LGGM	GRCh37	2	183853882	183853882	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	10	.	.	ENST00000360982.2:c.841A>G	p.Thr281Ala	p.T281A	ENST00000360982	NM_013436.4	281	Act/Gct	0	1		UPI0000000DED	0	getma.org/pdb.php?prot=NCKP1_HUMAN&from=8&to=1124&var=T275A	ENST00000361354		ENSG00000061676	7666		31	0.46		HGNC	p.T281A		NCKAP1		SNV							ENST00000360982	protein_coding	getma.org/?cm=var&var=hg19,2,183853882,T,C&fts=all		Pfam_domain:PF09735,hmmpanther:PTHR12093,hmmpanther:PTHR12093:SF11		T/A		C	neutral	1196/20347		getma.org/?cm=msa&ty=f&p=NCKP1_HUMAN&rb=8&re=1124&var=T275A	tolerated(0.54)					NCKAP1,missense_variant,p.Thr275Ala,ENST00000361354,;NCKAP1,missense_variant,p.Thr281Ala,ENST00000360982,NM_013436.4,NM_205842.2;							MODERATE	823/3387	T275A	NCKP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000355348		CCDS2287.1			1	
COBL	0	LGGM	GRCh37	7	51096206	51096206	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	7	10	.	.	ENST00000265136.7:c.2587A>G	p.Thr863Ala	p.T863A	ENST00000265136	NM_015198.3	863	Acg/Gcg	0	1	1	UPI00001A9480	0	NA	ENST00000265136		ENSG00000106078	22199		17	1.895		HGNC	p.T748A		COBL		SNV							ENST00000431948	protein_coding	getma.org/?cm=var&var=hg19,7,51096206,T,C&fts=all		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1		T/A		C	low	2753/5291		getma.org/?cm=msa&ty=f&p=COBL_HUMAN&rb=741&re=940&var=T863A	deleterious(0)	C9J9X1_HUMAN			YES	COBL,missense_variant,p.Thr945Ala,ENST00000395542,;COBL,missense_variant,p.Thr863Ala,ENST00000265136,NM_015198.3;COBL,missense_variant,p.Thr748Ala,ENST00000431948,;COBL,missense_variant,p.Thr755Ala,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;							MODERATE	2587/3786	T863A	COBL_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265136		CCDS34637.1			1	
CDCP1	0	LGGM	GRCh37	3	45134795	45134795	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	11	.	.	ENST00000296129.1:c.1601C>T	p.Thr534Met	p.T534M	ENST00000296129	NM_022842.4	534	aCg/aTg	0	1	1	UPI000013E304	0	NA	ENST00000296129		ENSG00000163814	24357		47	1.95		HGNC	p.T534M	rs371285218	CDCP1		SNV	T:0.0002						ENST00000296129	protein_coding	getma.org/?cm=var&var=hg19,3,45134795,G,A&fts=all		hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0		T/M	T:0	A	medium	1736/6006	1.51E-05	getma.org/?cm=msa&ty=f&p=CDCP1_HUMAN&rb=61&re=834&var=T534M	deleterious(0.03)				YES	CDCP1,missense_variant,p.Thr534Met,ENST00000296129,NM_022842.4;							MODERATE	1601/2511	T534M	CDCP1_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000296129	8.24E-06	CCDS2727.1			1	
UBR5	0	LGGM	GRCh37	8	103339996	103339996	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	71	11	.	.	ENST00000520539.1:c.1455T>G	p.Ala485=	p.A485=	ENST00000520539	NM_015902.5	485	gcT/gcG	0	1	1	UPI0000129BCB	0		ENST00000520539		ENSG00000104517	16806		82			HGNC	p.A485A		UBR5		SNV							ENST00000520539	protein_coding			Gene3D:2.130.10.30,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77,Superfamily_domains:SSF50985		A		C		2062/10297				Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN			YES	UBR5,synonymous_variant,p.=,ENST00000520539,NM_015902.5;UBR5,synonymous_variant,p.=,ENST00000220959,NM_001282873.1;UBR5,synonymous_variant,p.=,ENST00000521922,;							LOW	1455/8400		UBR5_HUMAN			Transcript			.	ENSP00000429084		CCDS34933.1			1	
CD163	0	LGGM	GRCh37	12	7636090	7636090	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	21	13	.	.	ENST00000359156.4:c.2961G>A	p.Gly987=	p.G987=	ENST00000359156	NM_004244.5	987	ggG/ggA	0	1	1	UPI00004565CC	0		ENST00000359156		ENSG00000177575	1631		34			HGNC	p.G987G	rs776402823	CD163		SNV							ENST00000432237	protein_coding			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487		G		T		3164/4268							YES	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,synonymous_variant,p.=,ENST00000542280,;CD163,upstream_gene_variant,,ENST00000537626,;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,;							LOW	2961/3471		C163A_HUMAN			Transcript			.	ENSP00000352071		CCDS8578.1			1	
TEX15	0	LGGM	GRCh37	8	30705877	30705877	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	15	14	.	.	ENST00000256246.2:c.657T>A	p.Val219=	p.V219=	ENST00000256246	NM_031271.3	219	gtT/gtA	0	1	1	UPI000013CEF9	0		ENST00000256246		ENSG00000133863	11738		29			HGNC	p.V219V		TEX15		SNV							ENST00000256246	protein_coding			hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1		V		T		732/10187				D3DSV6_HUMAN			YES	TEX15,synonymous_variant,p.=,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;							LOW	657/8370		TEX15_HUMAN			Transcript			.	ENSP00000256246		CCDS6080.1			1	
DCAF4L1	0	LGGM	GRCh37	4	41984610	41984610	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	24	15	.	.	ENST00000333141.5:c.801G>T	p.Leu267=	p.L267=	ENST00000333141	NM_001029955.3	267	ctG/ctT	0	1	1	UPI0000160C25	0		ENST00000333141		ENSG00000182308	27723		39			HGNC	p.L267L		DCAF4L1		SNV							ENST00000333141	protein_coding			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF327,hmmpanther:PTHR22847,PROSITE_profiles:PS50294		L		T		898/4764							YES	DCAF4L1,synonymous_variant,p.=,ENST00000333141,NM_001029955.3;							LOW	801/1191		DC4L1_HUMAN			Transcript			.	ENSP00000327796		CCDS33978.1			1	
KDM3B	0	LGGM	GRCh37	5	137759888	137759888	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	45	15	.	.	ENST00000314358.5:c.4097T>A	p.Val1366Glu	p.V1366E	ENST00000314358	NM_016604.3	1366	gTg/gAg	0	1	1	UPI000020C6A8	0	NA	ENST00000314358		ENSG00000120733	1337		60	0.345		HGNC	p.V1022E		KDM3B		SNV							ENST00000394866	protein_coding	getma.org/?cm=var&var=hg19,5,137759888,T,A&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8		V/E		A	neutral	4297/6813		getma.org/?cm=msa&ty=f&p=KDM3B_HUMAN&rb=1244&re=1443&var=V1366E	tolerated(1)	F5H275_HUMAN			YES	KDM3B,missense_variant,p.Val1366Glu,ENST00000314358,NM_016604.3;KDM3B,missense_variant,p.Val1022Glu,ENST00000394866,;KDM3B,missense_variant,p.Val398Glu,ENST00000542866,;KDM3B,downstream_gene_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,non_coding_transcript_exon_variant,,ENST00000505756,;KDM3B,upstream_gene_variant,,ENST00000509468,;							MODERATE	4097/5286	V1366E	KDM3B_HUMAN			Transcript		benign(0.315)	.	ENSP00000326563		CCDS34242.1			1	
DMBT1	0	LGGM	GRCh37	10	124392379	124392379	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	23	16	.	.	ENST00000368909.3:c.5983C>T	p.Pro1995Ser	p.P1995S	ENST00000368909	NM_007329.2	1995	Cct/Tct	0	1		UPI000047021C	0	getma.org/pdb.php?prot=DMBT1_HUMAN&from=1987&to=2007&var=P1995S	ENST00000338354		ENSG00000187908	2926		39	0.535		HGNC	p.P1995S		DMBT1		SNV			1				ENST00000339871	protein_coding	getma.org/?cm=var&var=hg19,10,124392379,C,T&fts=all				P/S		T	neutral	6089/7686		getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=1957&re=2037&var=P1995S	tolerated(0.15)	B6V682_HUMAN				DMBT1,missense_variant,p.Pro1995Ser,ENST00000338354,;DMBT1,missense_variant,p.Pro1995Ser,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Pro1985Ser,ENST00000344338,;DMBT1,missense_variant,p.Pro1985Ser,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Pro1367Ser,ENST00000330163,;DMBT1,missense_variant,p.Pro1367Ser,ENST00000368956,NM_004406.2;DMBT1,missense_variant,p.Pro715Ser,ENST00000359586,;							MODERATE	5983/7242	P1995S	DMBT1_HUMAN			Transcript		possibly_damaging(0.882)	.	ENSP00000342210					1	
C12orf55	0	LGGM	GRCh37	12	96932169	96932169	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	31	16	.	.	ENST00000524981.4:c.1799A>C	p.Gln600Pro	p.Q600P	ENST00000524981		600	cAa/cCa	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		47	1.905		HGNC	p.Q552P		C12orf55		SNV							ENST00000553778	protein_coding	getma.org/?cm=var&var=hg19,12,96932169,A,C&fts=all		Pfam_domain:PF14858		Q/P		C	medium	1822/9766		getma.org/?cm=msa&ty=f&p=CL055_HUMAN&rb=1&re=801&var=Q600P	tolerated(0.08)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Gln600Pro,ENST00000524981,;C12orf55,missense_variant,p.Gln600Pro,ENST00000298953,;C12orf55,upstream_gene_variant,,ENST00000554108,;C12orf55,missense_variant,p.Gln552Pro,ENST00000553778,;							MODERATE	1799/9291	Q600P				Transcript		possibly_damaging(0.705)	.	ENSP00000431759					1	
MACF1	0	LGGM	GRCh37	1	39800669	39800669	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	27	17	.	.	ENST00000545844.1:c.4629+7644G>T		*1543*	ENST00000545844				0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		44	0.205		HGNC	p.M2803I		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39800669,G,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37		M/I		T	neutral	8511/23440		getma.org/?cm=msa&ty=f&p=H3BPE1_HUMAN&rb=2801&re=3000&var=M2803I		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Met2803Ile,ENST00000564288,;MACF1,missense_variant,p.Met2840Ile,ENST00000567887,;MACF1,missense_variant,p.Met2808Ile,ENST00000372915,;MACF1,missense_variant,p.Met1243Ile,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,;							MODERATE	8424/22167	M2803I	MACF1_HUMAN			Transcript		benign(0.004)	.	ENSP00000362006					1	
ZC3H11A	0	LGGM	GRCh37	1	203798633	203798633	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	36	17	.	.	ENST00000545588.1:c.353T>G	p.Leu118Arg	p.L118R	ENST00000545588	NM_001271675.1	118	cTt/cGt	0	1		UPI000006F3FD	0	NA	ENST00000332127		ENSG00000058673	29093		53	1.5		HGNC	p.L118R		ZC3H11A		SNV							ENST00000545588	protein_coding	getma.org/?cm=var&var=hg19,1,203798633,T,G&fts=all		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2		L/R		G	low	1210/5015		getma.org/?cm=msa&ty=f&p=ZC11A_HUMAN&rb=1&re=200&var=L118R	deleterious(0)	E9PBY7_HUMAN,C9J0L0_HUMAN,B4DLG2_HUMAN				ZC3H11A,missense_variant,p.Leu118Arg,ENST00000545588,NM_001271675.1;ZC3H11A,missense_variant,p.Leu118Arg,ENST00000332127,;ZC3H11A,missense_variant,p.Leu118Arg,ENST00000367210,;ZC3H11A,missense_variant,p.Leu118Arg,ENST00000367214,;ZC3H11A,missense_variant,p.Leu118Arg,ENST00000367212,NM_014827.4;ZC3H11A,missense_variant,p.Leu118Arg,ENST00000453771,;ZC3H11A,non_coding_transcript_exon_variant,,ENST00000480354,;ZC3H11A,missense_variant,p.Leu118Arg,ENST00000495527,;							MODERATE	353/2433	L118R	ZC11A_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000333253		CCDS30978.1			1	
IFNGR2	0	LGGM	GRCh37	21	34787247	34787247	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	33	17	.	.	ENST00000290219.6:c.126C>T	p.Asn42=	p.N42=	ENST00000290219	NM_005534.3	42	aaC/aaT	0	1	1	UPI00001514B0	0		ENST00000290219		ENSG00000159128	5440		50			HGNC	p.N42N	rs376457511,COSM1327423	IFNGR2		SNV	T:0		1			0,1	ENST00000290219	protein_coding		T:0	hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF9,Pfam_domain:PF01108,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		N	T:0.0002	T		774/2221	0.000135			B5MCZ0_HUMAN,A8K881_HUMAN,A1Z2N6_HUMAN	T:0	T:0.001	YES	IFNGR2,synonymous_variant,p.=,ENST00000290219,NM_005534.3;IFNGR2,synonymous_variant,p.=,ENST00000381995,;IFNGR2,5_prime_UTR_variant,,ENST00000405436,;IFNGR2,3_prime_UTR_variant,,ENST00000439213,;IFNGR2,intron_variant,,ENST00000545369,;	0.00116	T:0.0002			0,1		LOW	126/1014		INGR2_HUMAN		T:0	Transcript			common_variant	ENSP00000290219	0.000156	CCDS33544.1		T:0	1	
RBBP6	0	LGGM	GRCh37	16	24582681	24582681	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	30	18	.	.	ENST00000319715.4:c.4294G>C	p.Asp1432His	p.D1432H	ENST00000319715	NM_006910.4	1432	Gac/Cac	0	1	1	UPI00001A96B8	0	NA	ENST00000319715		ENSG00000122257	9889		48	0.695		HGNC	p.D1432H		RBBP6		SNV							ENST00000319715	protein_coding	getma.org/?cm=var&var=hg19,16,24582681,G,C&fts=all		hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1		D/H		C	neutral	4726/6229		getma.org/?cm=msa&ty=f&p=RBBP6_HUMAN&rb=1270&re=1469&var=D1432H	deleterious_low_confidence(0)	I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN			YES	RBBP6,missense_variant,p.Asp1432His,ENST00000319715,NM_006910.4;RBBP6,missense_variant,p.Asp1398His,ENST00000348022,NM_018703.3;RBBP6,missense_variant,p.Asp592His,ENST00000381039,;RBBP6,downstream_gene_variant,,ENST00000564314,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,downstream_gene_variant,,ENST00000570185,;							MODERATE	4294/5379	D1432H	RBBP6_HUMAN			Transcript		unknown(0)	.	ENSP00000317872		CCDS10621.1			1	
GRIA2	0	LGGM	GRCh37	4	158142195	158142195	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	28	18	.	.	ENST00000296526.7:c.1A>T	p.Met1?	p.M1?	ENST00000296526	NM_000826.3	1	Atg/Ttg	0	1		UPI000012B7C2	0	NA	ENST00000264426		ENSG00000120251	4572		46	0		HGNC	p.M1L		GRIA2		SNV							ENST00000296526	protein_coding	getma.org/?cm=var&var=hg19,4,158142195,A,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM		M/L		T	NA	280/3445		http://getma.org/?cm=msa&ty=f&p=GRIA2_HUMAN&rb=1&re=47&var=M1L	deleterious_low_confidence(0)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				GRIA2,start_lost,p.Met1?,ENST00000296526,NM_000826.3;GRIA2,start_lost,p.Met1?,ENST00000264426,NM_001083619.1;GRIA2,start_lost,p.Met1?,ENST00000509417,;GRIA2,start_lost,p.Met1?,ENST00000512774,;GRIA2,intron_variant,,ENST00000393815,NM_001083620.1;GRIA2,intron_variant,,ENST00000507898,;GRIA2,intron_variant,,ENST00000506284,;GRIA2,upstream_gene_variant,,ENST00000449365,;GRIA2,upstream_gene_variant,,ENST00000505888,;GRIA2,intron_variant,,ENST00000504801,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;GRIA2,upstream_gene_variant,,ENST00000323661,;							HIGH	Jan-52	M1L	GRIA2_HUMAN			Transcript		benign(0.354)	.	ENSP00000264426		CCDS43274.1			1	
ARFGEF1	0	LGGM	GRCh37	8	68200192	68200192	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	104	19	.	.	ENST00000262215.3:c.1025G>T	p.Gly342Val	p.G342V	ENST00000262215	NM_006421.4	342	gGa/gTa	0	1	1	UPI000013D275	0	NA	ENST00000262215		ENSG00000066777	15772		123	0.895		HGNC	p.G342V		ARFGEF1		SNV							ENST00000262215	protein_coding	getma.org/?cm=var&var=hg19,8,68200192,C,A&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137		G/V		A	low	1415/7225		getma.org/?cm=msa&ty=f&p=BIG1_HUMAN&rb=201&re=400&var=G342V	tolerated(0.24)	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN			YES	ARFGEF1,missense_variant,p.Gly342Val,ENST00000262215,NM_006421.4;							MODERATE	1025/5550	G342V	BIG1_HUMAN			Transcript		benign(0.017)	.	ENSP00000262215		CCDS6199.1			1	
RRN3	0	LGGM	GRCh37	16	15159179	15159179	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	48	19	.	.	ENST00000198767.6:c.1603C>T	p.Gln535Ter	p.Q535*	ENST00000198767	NM_018427.3	535	Cag/Tag	0	1	1	UPI000006E1BF	0	NA	ENST00000198767		ENSG00000085721	30346		67	0		HGNC	p.Q535X		RRN3		SNV							ENST00000563559	protein_coding	getma.org/?cm=var&var=hg19,16,15159179,G,A&fts=all		hmmpanther:PTHR12790,Pfam_domain:PF05327		Q/*		A	NA	1687/3762		NA		B4E3T2_HUMAN,B4DZL9_HUMAN			YES	RRN3,stop_gained,p.Gln535Ter,ENST00000198767,NM_018427.3;RRN3,stop_gained,p.Gln505Ter,ENST00000429751,;RRN3,stop_gained,p.Gln535Ter,ENST00000563559,;RRN3,stop_gained,p.Gln502Ter,ENST00000327307,;RRN3,stop_gained,p.Gln353Ter,ENST00000540462,;PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;							HIGH	1603/1956	Q535*	RRN3_HUMAN			Transcript			.	ENSP00000198767		CCDS10559.1			1	
PRR11	0	LGGM	GRCh37	17	57262415	57262415	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H081665	H081665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	44	19	.	.	ENST00000262293.4:c.129A>G	p.Arg43=	p.R43=	ENST00000262293	NM_018304.3	43	agA/agG	0	1	1	UPI000006FA82	0		ENST00000262293		ENSG00000068489	25619		63			HGNC	p.R43R		PRR11		SNV							ENST00000262293	protein_coding			hmmpanther:PTHR23330		R		G		441/2332				J3QRV0_HUMAN,J3QR53_HUMAN,D2SNZ4_HUMAN			YES	PRR11,splice_region_variant,p.=,ENST00000262293,NM_018304.3;PRR11,splice_region_variant,p.=,ENST00000578777,;PRR11,splice_region_variant,p.=,ENST00000582995,;PRR11,splice_region_variant,p.=,ENST00000578542,;PRR11,splice_region_variant,p.=,ENST00000580177,;PRR11,splice_region_variant,,ENST00000581182,;CTD-2510F5.2,upstream_gene_variant,,ENST00000582158,;							LOW	129/1083		PRR11_HUMAN			Transcript			.	ENSP00000262293		CCDS11614.1			1	
MTR	0	LGGM	GRCh37	1	236966823	236966823	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H081665	H081665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	43	19	.	.	ENST00000366577.5:c.130G>C	p.Glu44Gln	p.E44Q	ENST00000366577	NM_000254.2	44	Gag/Cag	0	1	1	UPI0000036BC4	0	getma.org/pdb.php?prot=METH_HUMAN&from=30&to=340&var=E44Q	ENST00000366577		ENSG00000116984	7468		62	0.225		HGNC	p.E44Q		MTR		SNV			1				ENST00000535889	protein_coding	getma.org/?cm=var&var=hg19,1,236966823,G,C&fts=all		Superfamily_domains:SSF82282,PIRSF_domain:PIRSF000381,Pfam_domain:PF02574,TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.330,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS50970		E/Q		C	neutral	524/10529		getma.org/?cm=msa&ty=f&p=METH_HUMAN&rb=30&re=340&var=E44Q	tolerated(0.06)				YES	MTR,missense_variant,p.Glu44Gln,ENST00000366577,NM_000254.2;MTR,missense_variant,p.Glu44Gln,ENST00000535889,;MTR,intron_variant,,ENST00000418145,;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;							MODERATE	130/3798	E44Q	METH_HUMAN			Transcript		benign(0.002)	.	ENSP00000355536		CCDS1614.1			1	
FANCM	0	LGGM	GRCh37	14	45644898	45644898	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	35	20	.	.	ENST00000267430.5:c.2941T>G	p.Ser981Ala	p.S981A	ENST00000267430	NM_020937.2	981	Tca/Gca	0	1	1	UPI000059F032	0	NA	ENST00000267430		ENSG00000187790	23168		55	1.5		HGNC	p.S981A		FANCM		SNV			1				ENST00000267430	protein_coding	getma.org/?cm=var&var=hg19,14,45644898,T,G&fts=all		hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		S/A		G	low	3026/7111		getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=795&re=1428&var=S981A	tolerated(0.33)				YES	FANCM,missense_variant,p.Ser981Ala,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Ser955Ala,ENST00000542564,;FANCM,missense_variant,p.Ser497Ala,ENST00000556250,;FANCM,upstream_gene_variant,,ENST00000554809,;							MODERATE	2941/6147	S981A	FANCM_HUMAN			Transcript		benign(0.164)	.	ENSP00000267430		CCDS32070.1			1	
EIF2AK1	0	LGGM	GRCh37	7	6080608	6080628	+	inframe_deletion	In_Frame_Del	DEL	AGTGGCAGCTGCTGTTCCACA	AGTGGCAGCTGCTGTTCCACA	-	novel	by Submitter	H081665	H081665N.bam	AGTGGCAGCTGCTGTTCCACA	AGTGGCAGCTGCTGTTCCACA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	10	23	.	.	ENST00000199389.6:c.1014_1034del	p.Val339_Leu345del	p.V339_L345del	ENST00000199389	NM_001134335.1	338	atTGTGGAACAGCAGCTGCCACTc/atc	0	1	1	UPI0000161BAE	0		ENST00000199389		ENSG00000086232	24921		33			HGNC	p.338_345del		EIF2AK1		deletion							ENST00000199389	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR11042:SF88,hmmpanther:PTHR11042,SMART_domains:SM00220		IVEQQLPL/I		-		1161-1181/4463				Q75MR0_HUMAN			YES	EIF2AK1,inframe_deletion,p.Val339_Leu345del,ENST00000199389,NM_001134335.1,NM_014413.3;EIF2AK1,inframe_deletion,p.Val215_Leu221del,ENST00000536084,;ANKRD61,downstream_gene_variant,,ENST00000409061,NM_001271700.1;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000495565,;EIF2AK1,non_coding_transcript_exon_variant,,ENST00000474029,;EIF2AK1,downstream_gene_variant,,ENST00000470168,;							MODERATE	1014-1034/1893		E2AK1_HUMAN			Transcript			.	ENSP00000199389		CCDS5345.1			1	
FAM47C	0	LGGM	GRCh37	X	37028027	37028027	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	14	24	.	.	ENST00000358047.3:c.1544C>T	p.Ser515Phe	p.S515F	ENST00000358047	NM_001013736.2	515	tCt/tTt	0	1	1	UPI000041ABF8	0	NA	ENST00000358047		ENSG00000198173	25301		38	1.525		HGNC	p.S515F		FAM47C		SNV							ENST00000358047	protein_coding	getma.org/?cm=var&var=hg19,X,37028027,C,T&fts=all		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF203		S/F		T	low	1596/3308		getma.org/?cm=msa&ty=f&p=FA47C_HUMAN&rb=380&re=579&var=S515F	tolerated_low_confidence(0.09)				YES	FAM47C,missense_variant,p.Ser515Phe,ENST00000358047,NM_001013736.2;							MODERATE	1544/3108	S515F	FA47C_HUMAN			Transcript		benign(0.362)	.	ENSP00000367913		CCDS35227.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	20	24	.	.	ENST00000349496.5:c.134C>G	p.Ser45Cys	p.S45C	ENST00000349496	NM_001904.3	45	tCt/tGt	0	1	1	UPI000012862F	0	NA	ENST00000349496	pathogenic	ENSG00000168036	2514		44	2.01		HGNC	p.S45C	rs121913409,COSM5689	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266137,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	414/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S45C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser45Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser45Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser45Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser38Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser45Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser38Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	134/2346	S45C	CTNB1_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000344456		CCDS2694.1			1	
HRNR	0	LGGM	GRCh37	1	152188447	152188447	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	222	30	.	.	ENST00000368801.2:c.5658G>T	p.Gln1886His	p.Q1886H	ENST00000368801	NM_001009931.2	1886	caG/caT	0	1	1	UPI00001D7CAD	0	NA	ENST00000368801		ENSG00000197915	20846		252	1.195		HGNC	p.Q1886H		HRNR		SNV							ENST00000368801	protein_coding	getma.org/?cm=var&var=hg19,1,152188447,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571		Q/H		A	low	5734/9623		getma.org/?cm=msa&ty=f&p=HORN_HUMAN&rb=161&re=2805&var=Q1886H		Q5W8V9_HUMAN			YES	HRNR,missense_variant,p.Gln1886His,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	5658/8553	Q1886H	HORN_HUMAN			Transcript		unknown(0)	.	ENSP00000357791		CCDS30859.1			1	
TMEM167B	0	LGGM	GRCh37	1	109635583	109635583	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	65	34	.	.	ENST00000338272.8:c.82C>T	p.Pro28Ser	p.P28S	ENST00000338272	NM_020141.3	28	Cct/Tct	0	1	1	UPI000006CCF7	0		ENST00000338272		ENSG00000215717	30187		99			HGNC	p.P28S		TMEM167B		SNV							ENST00000338272	protein_coding			Pfam_domain:PF06842,hmmpanther:PTHR13229,hmmpanther:PTHR13229:SF6		P/S		T		1152/3730			deleterious(0.01)				YES	TMEM167B,missense_variant,p.Pro28Ser,ENST00000338272,NM_020141.3;RP5-1065J22.8,upstream_gene_variant,,ENST00000608574,;TMEM167B,non_coding_transcript_exon_variant,,ENST00000473828,;TMEM167B,non_coding_transcript_exon_variant,,ENST00000479160,;							MODERATE	82/225		KISHB_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000342148		CCDS30789.1			1	
TLDC1	0	LGGM	GRCh37	16	84531669	84531669	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H081665	H081665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	210	45	.	.	ENST00000343629.6:c.24G>A	p.Val8=	p.V8=	ENST00000343629	NM_020947.3	8	gtG/gtA	0	1	1	UPI00001BBB2E	0		ENST00000343629		ENSG00000140950	29325		255			HGNC	p.V8V		TLDC1		SNV							ENST00000565765	protein_coding			hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF66		V		T		207/3392				H3BUB0_HUMAN,H3BTC5_HUMAN,H3BQ13_HUMAN,B4DM09_HUMAN			YES	TLDC1,synonymous_variant,p.=,ENST00000343629,NM_020947.3;TLDC1,synonymous_variant,p.=,ENST00000562447,;TLDC1,synonymous_variant,p.=,ENST00000565079,;TLDC1,synonymous_variant,p.=,ENST00000565765,;TLDC1,5_prime_UTR_variant,,ENST00000535580,;RP11-517C16.4,downstream_gene_variant,,ENST00000568771,;TLDC1,non_coding_transcript_exon_variant,,ENST00000561807,;TLDC1,synonymous_variant,p.=,ENST00000566995,;TLDC1,synonymous_variant,p.=,ENST00000570036,;TLDC1,non_coding_transcript_exon_variant,,ENST00000565701,;							LOW	24/1371		TLDC1_HUMAN			Transcript			.	ENSP00000343635		CCDS32498.1			1	
CFHR5	0	LGGM	GRCh37	1	196946807	196946807	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H081665	H081665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H081665N.bam, H081665T.bam	Illumina HiSeq	134	82	.	.	ENST00000256785.4:c.13T>C	p.Phe5Leu	p.F5L	ENST00000256785		5	Ttc/Ctc	0	1	1	UPI0000043814	0	NA	ENST00000256785		ENSG00000134389	24668		216	0.345		HGNC	p.F29L		CFHR5		SNV			1				ENST00000367414	protein_coding	getma.org/?cm=var&var=hg19,1,196946807,T,C&fts=all		Cleavage_site_(Signalp):SignalP-noTM		F/L		C	neutral	122/2810		getma.org/?cm=msa&ty=f&p=FHR5_HUMAN&rb=1&re=52&var=F5L	tolerated_low_confidence(0.13)				YES	CFHR5,missense_variant,p.Phe29Leu,ENST00000367414,NM_030787.3;CFHR5,missense_variant,p.Phe5Leu,ENST00000256785,;							MODERATE	13/1710	F5L	FHR5_HUMAN			Transcript		benign(0)	.	ENSP00000256785		CCDS1387.1			1	
AP5B1	0	LGGM	GRCh37	11	65545441	65545441	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	2	2	.	.	ENST00000532090.2:c.2523G>T	p.Leu841=	p.L841=	ENST00000532090	NM_138368.4	841	ctG/ctT	0	1	1	UPI00001FAC4D	0		ENST00000532090		ENSG00000254470	25104		4			HGNC	p.L841L		AP5B1		SNV							ENST00000532090	protein_coding					L		A		2734/4811							YES	AP5B1,synonymous_variant,p.=,ENST00000532090,NM_138368.4;AP001266.1,non_coding_transcript_exon_variant,,ENST00000316846,;							LOW	2523/2637		AP5B1_HUMAN			Transcript			.	ENSP00000454303		CCDS58146.1			1	
MAPK15	0	LGGM	GRCh37	8	144802936	144802936	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	5	2	.	.	ENST00000338033.4:c.843T>C	p.Leu281=	p.L281=	ENST00000338033	NM_139021.2	281	ctT/ctC	0	1	1	UPI00000496E7	0		ENST00000338033		ENSG00000181085	24667		7			HGNC	p.L281L	rs781890831	MAPK15		SNV							ENST00000338033	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF79,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112		L		C		962/1961							YES	MAPK15,synonymous_variant,p.=,ENST00000338033,NM_139021.2;FAM83H,downstream_gene_variant,,ENST00000388913,NM_198488.3;MAPK15,downstream_gene_variant,,ENST00000395107,;MAPK15,downstream_gene_variant,,ENST00000395108,;RP11-429J17.5,upstream_gene_variant,,ENST00000527908,;MAPK15,non_coding_transcript_exon_variant,,ENST00000484654,;MAPK15,non_coding_transcript_exon_variant,,ENST00000461928,;MAPK15,non_coding_transcript_exon_variant,,ENST00000533830,;FAM83H,downstream_gene_variant,,ENST00000395103,;MAPK15,upstream_gene_variant,,ENST00000528175,;MAPK15,downstream_gene_variant,,ENST00000475376,;	0.000119						LOW	843/1635		MK15_HUMAN			Transcript			.	ENSP00000337691	8.26E-06	CCDS6409.2			1	
TCP10L2	0	LGGM	GRCh37	6	167595307	167595307	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	6	2	.	.	ENST00000366832.2:c.965C>T	p.Pro322Leu	p.P322L	ENST00000366832	NM_001145121.1	322	cCa/cTa	0	1	1	UPI0000253B82	0	NA	ENST00000366832		ENSG00000166984	21254		8	0.695		HGNC	p.P322L	COSM3622830,COSM3622831	TCP10L2		SNV						1,1	ENST00000366832	protein_coding	getma.org/?cm=var&var=hg19,6,167595307,C,T&fts=all		hmmpanther:PTHR10331		P/L		T	neutral	1096/2185		getma.org/?cm=msa&ty=f&p=TCP2L_HUMAN&rb=201&re=353&var=P322L	deleterious(0)	F5GYV4_HUMAN			YES	TCP10L2,missense_variant,p.Pro322Leu,ENST00000366832,NM_001145121.1;TCP10L2,intron_variant,,ENST00000283507,;TCP10L2,downstream_gene_variant,,ENST00000464222,;					1,1		MODERATE	965/1062	P322L	TCP2L_HUMAN			Transcript		possibly_damaging(0.685)	.	ENSP00000355797		CCDS47514.1			1	
NLRP12	0	LGGM	GRCh37	19	54314082	54314082	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	18	2	.	.	ENST00000324134.6:c.831G>C	p.Ala277=	p.A277=	ENST00000324134	NM_144687.3	277	gcG/gcC	0	1	1	UPI00001412CE	0		ENST00000324134		ENSG00000142405	22938	8.67E-05	20			HGNC	p.A277A	rs371391087	NLRP12		SNV	T:0		1				ENST00000324134	protein_coding			PROSITE_profiles:PS50837,hmmpanther:PTHR24106:SF6,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Pfam_domain:PF05729,Superfamily_domains:SSF52540		A	T:0.0001	G		1000/3801							YES	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,;							LOW	831/3186		NAL12_HUMAN			Transcript			.	ENSP00000319377	8.24E-06	CCDS12864.1			1	
B3GALT6	0	LGGM	GRCh37	1	1168026	1168027	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	T	novel	by Submitter	H090156	H090156N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	4	2	.	.	ENST00000379198.2:c.368_369insT	p.Ala124ArgfsTer319	p.A124Rfs*319	ENST00000379198	NM_080605.3	123	ccc/ccTc	0	1	1	UPI0000141885	0		ENST00000379198		ENSG00000176022	17978		6			HGNC	p.P123fs		B3GALT6		insertion			1				ENST00000379198	protein_coding			Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF28		P/PX		T		398-399/2793							YES	B3GALT6,frameshift_variant,p.Ala124ArgfsTer319,ENST00000379198,NM_080605.3;SDF4,upstream_gene_variant,,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,upstream_gene_variant,,ENST00000360001,;SDF4,upstream_gene_variant,,ENST00000545427,;SDF4,upstream_gene_variant,,ENST00000403997,;SDF4,upstream_gene_variant,,ENST00000459994,;SDF4,upstream_gene_variant,,ENST00000465727,;							HIGH	368-369/990		B3GT6_HUMAN			Transcript			.	ENSP00000368496		CCDS13.1			1	
C12orf57	0	LGGM	GRCh37	12	7054968	7054968	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	4	2	.	.	ENST00000229281.5:c.264C>A	p.Tyr88Ter	p.Y88*	ENST00000229281	NM_138425.2	88	taC/taA	0	1	1	UPI0000126B9B	0	NA	ENST00000229281		ENSG00000111678	29521		6	0		HGNC	p.Y59X		C12orf57		SNV			1				ENST00000537087	protein_coding	getma.org/?cm=var&var=hg19,12,7054968,C,A&fts=all		Pfam_domain:PF14974,hmmpanther:PTHR13463,hmmpanther:PTHR13463:SF3		Y/*		A	NA	363/560		NA		U3KQ85_HUMAN			YES	C12orf57,stop_gained,p.Tyr59Ter,ENST00000537087,;C12orf57,stop_gained,p.Tyr88Ter,ENST00000229281,NM_138425.2;C12orf57,stop_gained,p.Tyr88Ter,ENST00000545581,;C12orf57,stop_gained,p.Tyr53Ter,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,;							HIGH	264/381	Y88*	C10_HUMAN			Transcript			.	ENSP00000229281		CCDS8571.1			1	
TRPM4	0	LGGM	GRCh37	19	49714046	49714046	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	6	2	.	.	ENST00000252826.5:c.3408C>A	p.Arg1136=	p.R1136=	ENST00000252826	NM_017636.3	1136	cgC/cgA	0	1	1	UPI0000070598	0		ENST00000252826		ENSG00000130529	17993		8			HGNC	p.R991R		TRPM4		SNV			1				ENST00000427978	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6		R		A		3534/4109							YES	TRPM4,synonymous_variant,p.=,ENST00000252826,NM_017636.3;TRPM4,synonymous_variant,p.=,ENST00000427978,NM_001195227.1;TRPM4,synonymous_variant,p.=,ENST00000355712,;TRPM4,synonymous_variant,p.=,ENST00000597316,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,non_coding_transcript_exon_variant,,ENST00000599459,;							LOW	3408/3645		TRPM4_HUMAN			Transcript			.	ENSP00000252826		CCDS33073.1			1	
COA1	0	LGGM	GRCh37	7	43680249	43680249	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	3	.	.	ENST00000395879.1:c.265-1G>T		p.X89_splice	ENST00000395879				0	1		UPI000006E8D7	0		ENST00000223336		ENSG00000106603	21868		40			HGNC	-		COA1		SNV							ENST00000415076	protein_coding							A		-/857				C9JA07_HUMAN,C9J6J1_HUMAN				COA1,splice_acceptor_variant,,ENST00000395879,;COA1,splice_acceptor_variant,,ENST00000310564,;COA1,splice_acceptor_variant,,ENST00000395880,;COA1,splice_acceptor_variant,,ENST00000223336,NM_018224.3;COA1,splice_acceptor_variant,,ENST00000415798,;COA1,downstream_gene_variant,,ENST00000431651,;COA1,non_coding_transcript_exon_variant,,ENST00000488813,;COA1,splice_acceptor_variant,,ENST00000438444,;COA1,splice_acceptor_variant,,ENST00000490251,;COA1,splice_acceptor_variant,,ENST00000415076,;COA1,splice_acceptor_variant,,ENST00000446330,;COA1,splice_acceptor_variant,,ENST00000446564,;							HIGH	265/441		COA1_HUMAN			Transcript			.	ENSP00000223336		CCDS5471.1			1	
RP11-830F9.6	0	LGGM	GRCh37	16	89017214	89017214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	3	.	.	ENST00000378347.2:c.688C>A	p.Arg230Ser	p.R230S	ENST00000378347		230	Cgt/Agt	0	1	1	UPI00001C114F	0		ENST00000378347		ENSG00000205018			49			Clone_based_vega_gene	p.R230S		RP11-830F9.6		SNV							ENST00000378347	protein_coding					R/S		A		1094/1812			tolerated_low_confidence(0.35)	Q6ZP14_HUMAN			YES	RP11-830F9.6,missense_variant,p.Arg230Ser,ENST00000378347,;CBFA2T3,intron_variant,,ENST00000268679,NM_005187.5;CBFA2T3,intron_variant,,ENST00000360302,;CBFA2T3,intron_variant,,ENST00000436887,;CBFA2T3,intron_variant,,ENST00000448839,;CBFA2T3,intron_variant,,ENST00000563640,;CBFA2T3,intron_variant,,ENST00000570046,;							MODERATE	688/1242					Transcript		unknown(0)	.	ENSP00000367598					1	
PNLIPRP2	0	LGGM	GRCh37	10	118394421	118394421	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	36	3	.	.	ENST00000537242.1:c.887C>A	p.Pro296His	p.P296H	ENST00000537242	NM_005396.4	296	cCt/cAt	0	1	1	UPI0000D60FDD	0		ENST00000537242		ENSG00000165862	9157		39			HGNC	p.P296H		PNLIPRP2		SNV							ENST00000537242	protein_coding			hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF85,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474		P/H		A		913/1479			deleterious(0)	F5H1V6_HUMAN			YES	PNLIPRP2,missense_variant,p.Pro296His,ENST00000537242,NM_005396.4;PNLIPRP2,non_coding_transcript_exon_variant,,ENST00000298771,;PNLIPRP2,missense_variant,p.Leu296Met,ENST00000433618,;							MODERATE	887/1407					Transcript		probably_damaging(0.985)	.	ENSP00000446346					1	
FRMD4B	0	LGGM	GRCh37	3	69230248	69230248	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	3	.	.	ENST00000398540.3:c.2653C>A	p.His885Asn	p.H885N	ENST00000398540	NM_015123.1	885	Cac/Aac	0	1	1	UPI00001C1DF1	0	NA	ENST00000398540		ENSG00000114541	24886		44	1.155		HGNC	p.H885N		FRMD4B		SNV							ENST00000398540	protein_coding	getma.org/?cm=var&var=hg19,3,69230248,G,T&fts=all		hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF16		H/N		T	low	2737/5060		getma.org/?cm=msa&ty=f&p=FRM4B_HUMAN&rb=731&re=930&var=H885N	tolerated(0.52)	E9PGA7_HUMAN,C9JAW0_HUMAN,C9JA15_HUMAN,C9J6Q2_HUMAN,B3KNA2_HUMAN			YES	FRMD4B,missense_variant,p.His831Asn,ENST00000542259,;FRMD4B,missense_variant,p.His885Asn,ENST00000398540,NM_015123.1;FRMD4B,missense_variant,p.His537Asn,ENST00000478263,;							MODERATE	2653/3105	H885N	FRM4B_HUMAN			Transcript		benign(0.08)	.	ENSP00000381549		CCDS46863.1			1	
TLE6	0	LGGM	GRCh37	19	2989674	2989674	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	10	3	.	.	ENST00000246112.4:c.1135G>T	p.Gly379Cys	p.G379C	ENST00000246112	NM_001143986.1	379	Ggt/Tgt	0	1	1	UPI000059D62B	0	getma.org/pdb.php?prot=TLE6_HUMAN&from=137&to=336&var=G256C	ENST00000246112		ENSG00000104953	30788		13	2.32		HGNC	p.G256C		TLE6		SNV							ENST00000452088	protein_coding	getma.org/?cm=var&var=hg19,19,2989674,G,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/C		T	medium	1336/2095		getma.org/?cm=msa&ty=f&p=TLE6_HUMAN&rb=137&re=336&var=G256C	deleterious(0)	K7ENW8_HUMAN,C9J532_HUMAN			YES	TLE6,missense_variant,p.Gly379Cys,ENST00000246112,NM_001143986.1;TLE6,missense_variant,p.Gly256Cys,ENST00000452088,NM_024760.2;TLE6,downstream_gene_variant,,ENST00000453329,;TLE6,non_coding_transcript_exon_variant,,ENST00000478073,;TLE6,downstream_gene_variant,,ENST00000468176,;TLE6,downstream_gene_variant,,ENST00000591953,;TLE6,non_coding_transcript_exon_variant,,ENST00000497878,;TLE6,non_coding_transcript_exon_variant,,ENST00000469572,;TLE6,downstream_gene_variant,,ENST00000474207,;							MODERATE	1135/1719	G256C	TLE6_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000246112		CCDS45910.1			1	
SUPT5H	0	LGGM	GRCh37	19	39962012	39962012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	3	.	.	ENST00000599117.1:c.1693G>T	p.Gly565Trp	p.G565W	ENST00000599117		565	Ggg/Tgg	0	1		UPI000006D81A	0	NA	ENST00000432763		ENSG00000196235	11469		46	3.345		HGNC	p.G565W		SUPT5H		SNV							ENST00000432763	protein_coding	getma.org/?cm=var&var=hg19,19,39962012,G,T&fts=all		hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945		G/W		T	medium	1872/3710		getma.org/?cm=msa&ty=f&p=SPT5H_HUMAN&rb=504&re=703&var=G565W	deleterious(0)	M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN				SUPT5H,missense_variant,p.Gly565Trp,ENST00000599117,;SUPT5H,missense_variant,p.Gly561Trp,ENST00000359191,;SUPT5H,missense_variant,p.Gly565Trp,ENST00000598725,NM_003169.3;SUPT5H,missense_variant,p.Gly565Trp,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,missense_variant,p.Gly561Trp,ENST00000402194,NM_001130825.1;SUPT5H,downstream_gene_variant,,ENST00000593727,;SUPT5H,non_coding_transcript_exon_variant,,ENST00000599335,;SUPT5H,downstream_gene_variant,,ENST00000598117,;SUPT5H,upstream_gene_variant,,ENST00000600818,;SUPT5H,downstream_gene_variant,,ENST00000598520,;SUPT5H,upstream_gene_variant,,ENST00000596208,;							MODERATE	1693/3264	G565W	SPT5H_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000404029		CCDS12536.1			1	
HBG1	0	LGGM	GRCh37	11	5269643	5269643	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	3	.	.	ENST00000330597.3:c.390C>A	p.Ser130=	p.S130=	ENST00000330597	NM_000559.2	130	tcC/tcA	0	1	1	UPI00000711A9	0		ENST00000330597		ENSG00000213934	4831		35			HGNC	p.S130S		HBG1		SNV			1				ENST00000330597	protein_coding			Prints_domain:PR00814,Superfamily_domains:SSF46458,Gene3D:1.10.490.10,hmmpanther:PTHR11442,PROSITE_profiles:PS01033,hmmpanther:PTHR11442:SF34		S		T		478/808				D9YZU8_HUMAN			YES	HBG1,synonymous_variant,p.=,ENST00000330597,NM_000559.2;HBG2,downstream_gene_variant,,ENST00000380259,;HBG2,downstream_gene_variant,,ENST00000380252,;HBG2,downstream_gene_variant,,ENST00000336906,NM_000184.2;CTD-2643I7.1,upstream_gene_variant,,ENST00000564523,;HBG2,downstream_gene_variant,,ENST00000444587,;HBBP1,upstream_gene_variant,,ENST00000433329,;							LOW	390/444		HBG1_HUMAN			Transcript			.	ENSP00000327431		CCDS7754.1			1	
HPN	0	LGGM	GRCh37	19	35556911	35556911	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	42	3	.	.	ENST00000262626.2:c.1190G>T	p.Arg397Leu	p.R397L	ENST00000262626	NM_182983.2	397	cGg/cTg	0	1	1	UPI000003FE67	0	getma.org/pdb.php?prot=HEPS_HUMAN&from=163&to=400&var=R397L	ENST00000262626		ENSG00000105707	5155		45	-0.27		HGNC	p.R239L		HPN		SNV							ENST00000597419	protein_coding	getma.org/?cm=var&var=hg19,19,35556911,G,T&fts=all		Superfamily_domains:SSF50494,SMART_domains:SM00020,Pfam_domain:PF00089,Gene3D:2.40.10.10,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF5,PROSITE_profiles:PS50240		R/L		T	neutral	2015/2363		getma.org/?cm=msa&ty=f&p=HEPS_HUMAN&rb=163&re=400&var=R397L	tolerated(0.41)	M0R244_HUMAN,B2ZDQ2_HUMAN			YES	HPN,missense_variant,p.Arg397Leu,ENST00000262626,NM_182983.2;HPN,missense_variant,p.Arg397Leu,ENST00000392226,NM_002151.2;HPN,missense_variant,p.Arg239Leu,ENST00000597419,;HPN-AS1,intron_variant,,ENST00000392227,;HPN,non_coding_transcript_exon_variant,,ENST00000593305,;HPN,non_coding_transcript_exon_variant,,ENST00000599363,;HPN,non_coding_transcript_exon_variant,,ENST00000541345,;							MODERATE	1190/1254	R397L	HEPS_HUMAN			Transcript		benign(0.024)	.	ENSP00000262626		CCDS32993.1			1	
FANCA	0	LGGM	GRCh37	16	89809260	89809260	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	3	.	.	ENST00000389301.3:c.3713G>T	p.Arg1238Met	p.R1238M	ENST00000389301	NM_000135.2	1238	aGg/aTg	0	1	1	UPI0000520A1A	0	NA	ENST00000389301		ENSG00000187741	3582		49	1.1		HGNC	p.R1238M		FANCA		SNV			1				ENST00000568369	protein_coding	getma.org/?cm=var&var=hg19,16,89809260,C,A&fts=all		Prints_domain:PR00826,hmmpanther:PTHR12047		R/M		A	low	3744/5451		getma.org/?cm=msa&ty=f&p=FANCA_HUMAN&rb=1109&re=1252&var=R1238M	tolerated(0.1)	H3BT53_HUMAN			YES	FANCA,missense_variant,p.Arg1238Met,ENST00000389301,NM_000135.2;FANCA,missense_variant,p.Arg1238Met,ENST00000568369,NM_001286167.1;FANCA,missense_variant,p.Arg15Met,ENST00000564475,;FANCA,missense_variant,p.Arg64Met,ENST00000567879,;ZNF276,downstream_gene_variant,,ENST00000289816,NM_152287.3;ZNF276,downstream_gene_variant,,ENST00000443381,NM_001113525.1;ZNF276,downstream_gene_variant,,ENST00000568064,;ZNF276,downstream_gene_variant,,ENST00000446326,;FANCA,upstream_gene_variant,,ENST00000561722,;FANCA,upstream_gene_variant,,ENST00000564870,;FANCA,non_coding_transcript_exon_variant,,ENST00000305699,;FANCA,intron_variant,,ENST00000564969,;FANCA,intron_variant,,ENST00000568626,;ZNF276,downstream_gene_variant,,ENST00000563983,;ZNF276,downstream_gene_variant,,ENST00000564004,;ZNF276,downstream_gene_variant,,ENST00000568295,;ZNF276,downstream_gene_variant,,ENST00000561536,;ZNF276,downstream_gene_variant,,ENST00000562530,;FANCA,downstream_gene_variant,,ENST00000567988,;FANCA,downstream_gene_variant,,ENST00000561660,;FANCA,upstream_gene_variant,,ENST00000562424,;FANCA,downstream_gene_variant,,ENST00000568983,;ZNF276,downstream_gene_variant,,ENST00000569901,;ZNF276,downstream_gene_variant,,ENST00000569582,;							MODERATE	3713/4368	R1238M	FANCA_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000373952		CCDS32515.1			1	
ZNF777	0	LGGM	GRCh37	7	149152479	149152479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	3	.	.	ENST00000247930.4:c.635G>T	p.Arg212Met	p.R212M	ENST00000247930	NM_015694.2	212	aGg/aTg	0	1	1	UPI0000E9B152	0	NA	ENST00000247930		ENSG00000196453	22213		49	1.905		HGNC	p.R212M		ZNF777		SNV							ENST00000247930	protein_coding	getma.org/?cm=var&var=hg19,7,149152479,C,A&fts=all		Pfam_domain:PF12417,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF204		R/M		A	medium	959/3233		getma.org/?cm=msa&ty=f&p=ZN777_HUMAN&rb=178&re=257&var=R212M	deleterious(0)	Q3KR11_HUMAN			YES	ZNF777,missense_variant,p.Arg212Met,ENST00000247930,NM_015694.2;							MODERATE	635/2496	R212M	ZN777_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000247930		CCDS43675.1			1	
SPATA20	0	LGGM	GRCh37	17	48632919	48632919	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	3	.	.	ENST00000006658.6:c.2305C>A	p.Leu769Ile	p.L769I	ENST00000006658	NM_022827.3	769	Ctc/Atc	0	1		UPI000013F302	0	NA	ENST00000356488		ENSG00000006282	26125		35	1.04		HGNC	p.L709I		SPATA20		SNV							ENST00000393244	protein_coding	getma.org/?cm=var&var=hg19,17,48632919,C,A&fts=all		hmmpanther:PTHR12145:SF11,hmmpanther:PTHR12145,PIRSF_domain:PIRSF006402		L/I		A	low	2340/2634		getma.org/?cm=msa&ty=f&p=SPT20_HUMAN&rb=617&re=786&var=L753I	tolerated(0.14)					SPATA20,missense_variant,p.Leu769Ile,ENST00000006658,NM_022827.3;SPATA20,missense_variant,p.Leu709Ile,ENST00000393244,NM_001258373.1;SPATA20,missense_variant,p.Leu753Ile,ENST00000356488,NM_001258372.1;CACNA1G-AS1,downstream_gene_variant,,ENST00000505793,;CACNA1G-AS1,downstream_gene_variant,,ENST00000505495,;CACNA1G-AS1,downstream_gene_variant,,ENST00000508920,;SPATA20,non_coding_transcript_exon_variant,,ENST00000511937,;SPATA20,3_prime_UTR_variant,,ENST00000504334,;SPATA20,3_prime_UTR_variant,,ENST00000503127,;SPATA20,non_coding_transcript_exon_variant,,ENST00000503063,;SPATA20,downstream_gene_variant,,ENST00000505559,;SPATA20,downstream_gene_variant,,ENST00000512181,;SPATA20,downstream_gene_variant,,ENST00000511347,;SPATA20,downstream_gene_variant,,ENST00000505656,;SPATA20,downstream_gene_variant,,ENST00000504265,;SPATA20,downstream_gene_variant,,ENST00000515619,;SPATA20,downstream_gene_variant,,ENST00000504271,;SPATA20,downstream_gene_variant,,ENST00000513618,;SPATA20,downstream_gene_variant,,ENST00000508528,;							MODERATE	2257/2361	L753I	SPT20_HUMAN			Transcript		benign(0.027)	.	ENSP00000348878		CCDS58563.1			1	
SMG6	0	LGGM	GRCh37	17	2202810	2202810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	38	3	.	.	ENST00000263073.6:c.1237G>T	p.Ala413Ser	p.A413S	ENST00000263073	NM_017575.4	413	Gcc/Tcc	0	1	1	UPI00002005C8	0	NA	ENST00000263073		ENSG00000070366	17809		41	0.695		HGNC	p.A382S		SMG6		SNV							ENST00000544865	protein_coding	getma.org/?cm=var&var=hg19,17,2202810,C,A&fts=all		hmmpanther:PTHR13548,hmmpanther:PTHR13548:SF1		A/S		A	neutral	1288/5960		getma.org/?cm=msa&ty=f&p=EST1A_HUMAN&rb=402&re=440&var=A413S	tolerated(0.09)	K7ENH7_HUMAN,K7ELM2_HUMAN,K7EKV2_HUMAN,I3L421_HUMAN,I3L3A9_HUMAN,I3L355_HUMAN,I3L1W8_HUMAN,I3L176_HUMAN			YES	SMG6,missense_variant,p.Ala382Ser,ENST00000544865,;SMG6,missense_variant,p.Ala413Ser,ENST00000263073,NM_017575.4;SRR,upstream_gene_variant,,ENST00000344595,NM_021947.1;SRR,upstream_gene_variant,,ENST00000576848,;SRR,upstream_gene_variant,,ENST00000574987,;SRR,upstream_gene_variant,,ENST00000575840,;SRR,upstream_gene_variant,,ENST00000576620,;SRR,upstream_gene_variant,,ENST00000572709,;							MODERATE	1237/4260	A413S	EST1A_HUMAN			Transcript		benign(0.139)	.	ENSP00000263073		CCDS11016.1			1	
RAB38	0	LGGM	GRCh37	11	87908395	87908395	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	3	.	.	ENST00000243662.6:c.158G>T	p.Trp53Leu	p.W53L	ENST00000243662	NM_022337.2	53	tGg/tTg	0	1	1	UPI000003F780	0	getma.org/pdb.php?prot=RAB38_HUMAN&from=11&to=179&var=W53L	ENST00000243662		ENSG00000123892	9776		20	-0.58		HGNC	p.W53L		RAB38		SNV							ENST00000243662	protein_coding	getma.org/?cm=var&var=hg19,11,87908395,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF409,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		W/L		A	neutral	241/1465		getma.org/?cm=msa&ty=f&p=RAB38_HUMAN&rb=11&re=179&var=W53L	deleterious(0.03)				YES	RAB38,missense_variant,p.Trp53Leu,ENST00000243662,NM_022337.2;RAB38,missense_variant,p.Trp70Leu,ENST00000531138,;RAB38,intron_variant,,ENST00000526372,;MIR3166,upstream_gene_variant,,ENST00000577344,;							MODERATE	158/636	W53L	RAB38_HUMAN			Transcript		benign(0.335)	.	ENSP00000243662		CCDS8281.1			1	
GMEB1	0	LGGM	GRCh37	1	29023564	29023564	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	27	3	.	.	ENST00000294409.2:c.596C>A	p.Thr199Lys	p.T199K	ENST00000294409	NM_006582.3	199	aCa/aAa	0	1	1	UPI000012B8AB	0	NA	ENST00000294409		ENSG00000162419	4370		30	1.1		HGNC	p.T165K		GMEB1		SNV							ENST00000456852	protein_coding	getma.org/?cm=var&var=hg19,1,29023564,C,A&fts=all		hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF3		T/K		A	low	686/1912		getma.org/?cm=msa&ty=f&p=GMEB1_HUMAN&rb=167&re=360&var=T199K	tolerated(0.24)				YES	GMEB1,missense_variant,p.Thr189Lys,ENST00000373816,NM_024482.2;GMEB1,missense_variant,p.Thr199Lys,ENST00000294409,NM_006582.3;GMEB1,missense_variant,p.Thr189Lys,ENST00000361872,;GMEB1,non_coding_transcript_exon_variant,,ENST00000480454,;							MODERATE	596/1722	T199K	GMEB1_HUMAN			Transcript		benign(0.149)	.	ENSP00000294409		CCDS327.1			1	
ERAP2	0	LGGM	GRCh37	5	96215692	96215692	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	27	3	.	.	ENST00000437043.3:c.303C>A	p.Val101=	p.V101=	ENST00000437043	NM_001130140.1	101	gtC/gtA	0	1	1	UPI0000036336	0		ENST00000437043		ENSG00000164308	29499		30			HGNC	p.V101V		ERAP2		SNV							ENST00000379904	protein_coding			hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:0038696		V		A		1014/5705				D6RGW0_HUMAN			YES	ERAP2,synonymous_variant,p.=,ENST00000437043,NM_001130140.1,NM_022350.3;ERAP2,synonymous_variant,p.=,ENST00000379904,;ERAP2,synonymous_variant,p.=,ENST00000510373,;ERAP2,synonymous_variant,p.=,ENST00000510309,;ERAP2,upstream_gene_variant,,ENST00000507346,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,synonymous_variant,p.=,ENST00000513084,;							LOW	303/2883		ERAP2_HUMAN			Transcript			.	ENSP00000400376		CCDS4086.1			1	
STON1	0	LGGM	GRCh37	2	48808364	48808364	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	3	.	.	ENST00000309835.3:c.592C>A	p.Leu198Ile	p.L198I	ENST00000309835		198	Ctt/Att	0	1		UPI000006E627	0	NA	ENST00000404752		ENSG00000243244	17003		44	0.55		HGNC	p.L198I		STON1		SNV							ENST00000394751	protein_coding	getma.org/?cm=var&var=hg19,2,48808364,C,A&fts=all		PIRSF_domain:PIRSF037099,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18		L/I		A	neutral	685/5511		getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=1&re=200&var=L198I	tolerated(0.43)					STON1,missense_variant,p.Leu198Ile,ENST00000309835,;STON1,missense_variant,p.Leu198Ile,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Leu198Ile,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Leu198Ile,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;							MODERATE	592/2208	L198I	STON1_HUMAN			Transcript		benign(0.017)	.	ENSP00000385273		CCDS1841.1			1	
TRIOBP	0	LGGM	GRCh37	22	38109244	38109244	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	8	3	.	.	ENST00000406386.3:c.282A>T	p.Pro94=	p.P94=	ENST00000406386	NM_001039141.2	94	ccA/ccT	0	1	1	UPI000067CB88	0		ENST00000406386		ENSG00000100106	17009		11			HGNC	p.P94P		TRIOBP		SNV			1				ENST00000406386	protein_coding					P		T		537/10129				F6WYE2_HUMAN,F6WMF4_HUMAN			YES	TRIOBP,synonymous_variant,p.=,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,intron_variant,,ENST00000344404,;TRIOBP,intron_variant,,ENST00000492485,;							LOW	282/7098		TARA_HUMAN			Transcript			.	ENSP00000384312		CCDS43015.1			1	
USP34	0	LGGM	GRCh37	2	61544884	61544884	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	3	.	.	ENST00000398571.2:c.3187G>T	p.Glu1063Ter	p.E1063*	ENST00000398571	NM_014709.3	1063	Gaa/Taa	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		44	0		HGNC	p.E1063X		USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61544884,C,A&fts=all				E/*		A	NA	3264/11357		NA					YES	USP34,stop_gained,p.Glu1063Ter,ENST00000398571,NM_014709.3;							HIGH	3187/10641	E1063*	UBP34_HUMAN			Transcript			.	ENSP00000381577		CCDS42686.1			1	
CSRP2	0	LGGM	GRCh37	12	77257003	77257003	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	31	3	.	.	ENST00000311083.5:c.234C>A	p.Gly78=	p.G78=	ENST00000311083	NM_001321.1	78	ggC/ggA	0	1	1	UPI000014104B	0		ENST00000311083		ENSG00000175183	2470		34			HGNC	p.G78G		CSRP2		SNV							ENST00000546966	protein_coding			hmmpanther:PTHR24215,hmmpanther:PTHR24215:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF57716		G		T		358/943							YES	CSRP2,synonymous_variant,p.=,ENST00000311083,NM_001321.1;CSRP2,synonymous_variant,p.=,ENST00000552330,;CSRP2,synonymous_variant,p.=,ENST00000546966,;CSRP2,synonymous_variant,p.=,ENST00000547435,;CSRP2,non_coding_transcript_exon_variant,,ENST00000548783,;CSRP2,downstream_gene_variant,,ENST00000547557,;CSRP2,downstream_gene_variant,,ENST00000551725,;							LOW	234/582		CSRP2_HUMAN			Transcript			.	ENSP00000310901		CCDS9015.1			1	
NEK8	0	LGGM	GRCh37	17	27068549	27068549	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	36	3	.	.	ENST00000268766.6:c.2010C>A	p.Ser670=	p.S670=	ENST00000268766	NM_178170.2	670	tcC/tcA	0	1	1	UPI000004B820	0		ENST00000268766		ENSG00000160602	13387		39			HGNC	p.S670S		NEK8		SNV			1				ENST00000268766	protein_coding			PROSITE_profiles:PS50012,hmmpanther:PTHR24362:SF209,hmmpanther:PTHR24362,Gene3D:2.130.10.30,Pfam_domain:PF00415,Superfamily_domains:SSF50985		S		A		2044/3581				K7EPD3_HUMAN,K7END4_HUMAN			YES	NEK8,synonymous_variant,p.=,ENST00000268766,NM_178170.2;TRAF4,upstream_gene_variant,,ENST00000262395,NM_004295.3;TRAF4,upstream_gene_variant,,ENST00000444415,;NEK8,downstream_gene_variant,,ENST00000592510,;TRAF4,upstream_gene_variant,,ENST00000262396,;TRAF4,upstream_gene_variant,,ENST00000422344,;AC010761.6,intron_variant,,ENST00000584779,;AC010761.9,downstream_gene_variant,,ENST00000577325,;AC010761.6,downstream_gene_variant,,ENST00000582536,;NEK8,3_prime_UTR_variant,,ENST00000543014,;TRAF4,upstream_gene_variant,,ENST00000586813,;TRAF4,upstream_gene_variant,,ENST00000461195,;TRAF4,upstream_gene_variant,,ENST00000498540,;TRAF4,upstream_gene_variant,,ENST00000478021,;TRAF4,upstream_gene_variant,,ENST00000394925,;TRAF4,upstream_gene_variant,,ENST00000475329,;							LOW	2010/2079		NEK8_HUMAN			Transcript			.	ENSP00000268766		CCDS32597.1			1	
MTHFD1	0	LGGM	GRCh37	14	64909041	64909041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	3	.	.	ENST00000216605.8:c.2057G>T	p.Arg686Leu	p.R686L	ENST00000216605	NM_005956.3	686	cGg/cTg	0	1	1	UPI000013C6FA	0	getma.org/pdb.php?prot=C1TC_HUMAN&from=316&to=935&var=R686L	ENST00000216605		ENSG00000100714	7432		44	4.015		HGNC	p.R686L		MTHFD1		SNV			1				ENST00000555709	protein_coding	getma.org/?cm=var&var=hg19,14,64909041,G,T&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF01268,hmmpanther:PTHR10025:SF30,hmmpanther:PTHR10025,HAMAP:MF_01543		R/L		T	high	2135/3135		getma.org/?cm=msa&ty=f&p=C1TC_HUMAN&rb=316&re=935&var=R686L	deleterious(0.03)				YES	MTHFD1,missense_variant,p.Arg742Leu,ENST00000545908,;MTHFD1,missense_variant,p.Arg686Leu,ENST00000216605,NM_005956.3;CTD-2555O16.2,intron_variant,,ENST00000556640,;CTD-2555O16.4,upstream_gene_variant,,ENST00000609125,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000553405,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000556771,;MTHFD1,downstream_gene_variant,,ENST00000555252,;MTHFD1,downstream_gene_variant,,ENST00000554677,;MTHFD1,downstream_gene_variant,,ENST00000555858,;							MODERATE	2057/2808	R686L	C1TC_HUMAN			Transcript		benign(0.033)	.	ENSP00000216605		CCDS9763.1			1	
ELL	0	LGGM	GRCh37	19	18557202	18557202	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	3	3	.	.	ENST00000262809.4:c.1621G>A	p.Ala541Thr	p.A541T	ENST00000262809	NM_006532.3	541	Gcc/Acc	0	1	1	UPI0000062324	0	getma.org/pdb.php?prot=ELL_HUMAN&from=513&to=614&var=A541T	ENST00000262809		ENSG00000105656	23114		6	2.135		HGNC	p.A541T	rs774423152	ELL	0.000146	SNV							ENST00000262809	protein_coding	getma.org/?cm=var&var=hg19,19,18557202,C,T&fts=all		Superfamily_domains:0053542,Pfam_domain:PF07303,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF9		A/T		T	medium	1693/4027		getma.org/?cm=msa&ty=f&p=ELL_HUMAN&rb=513&re=614&var=A541T	deleterious(0.02)	Q75MS0_HUMAN			YES	ELL,missense_variant,p.Ala541Thr,ENST00000262809,NM_006532.3;ELL,missense_variant,p.Ala408Thr,ENST00000596124,;CTD-3137H5.1,downstream_gene_variant,,ENST00000594590,;ELL,3_prime_UTR_variant,,ENST00000594635,;ELL,non_coding_transcript_exon_variant,,ENST00000608165,;ELL,upstream_gene_variant,,ENST00000610152,;AC010335.1,upstream_gene_variant,,ENST00000541164,;							MODERATE	1621/1866	A541T	ELL_HUMAN			Transcript		benign(0.071)	.	ENSP00000262809	1.65E-05	CCDS12380.1			1	
IKZF2	0	LGGM	GRCh37	2	214013350	214013350	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	3	.	.	ENST00000457361.1:c.4G>T	p.Glu2Ter	p.E2*	ENST00000457361	NM_016260.2	2	Gaa/Taa	0	1		UPI000013D4DA	0	NA	ENST00000434687		ENSG00000030419	13177		44	0		HGNC	p.E8X		IKZF2		SNV							ENST00000342002	protein_coding	getma.org/?cm=var&var=hg19,2,214013350,C,A&fts=all		hmmpanther:PTHR24404:SF31,hmmpanther:PTHR24404		E/*		A	NA	314/3888		NA		Q53SU9_HUMAN,Q53RV5_HUMAN,Q53QP1_HUMAN,E7EPU0_HUMAN				IKZF2,stop_gained,p.Glu2Ter,ENST00000457361,NM_016260.2;IKZF2,stop_gained,p.Glu2Ter,ENST00000434687,;IKZF2,stop_gained,p.Glu8Ter,ENST00000342002,;IKZF2,stop_gained,p.Glu2Ter,ENST00000374319,NM_001079526.1;IKZF2,stop_gained,p.Glu2Ter,ENST00000413091,;IKZF2,stop_gained,p.Glu2Ter,ENST00000451136,;IKZF2,stop_gained,p.Glu2Ter,ENST00000421754,;IKZF2,stop_gained,p.Glu2Ter,ENST00000374327,;IKZF2,stop_gained,p.Glu8Ter,ENST00000433134,;IKZF2,stop_gained,p.Glu2Ter,ENST00000452786,;IKZF2,stop_gained,p.Glu8Ter,ENST00000442445,;RP11-105N14.1,upstream_gene_variant,,ENST00000604818,;IKZF2,stop_gained,p.Glu2Ter,ENST00000431520,;IKZF2,stop_gained,p.Glu2Ter,ENST00000439848,;IKZF2,stop_gained,p.Glu2Ter,ENST00000412444,;IKZF2,stop_gained,p.Glu2Ter,ENST00000453575,;IKZF2,stop_gained,p.Glu2Ter,ENST00000374326,;							HIGH	4/1581	E2*	IKZF2_HUMAN			Transcript			.	ENSP00000412869		CCDS2395.1			1	
DHPS	0	LGGM	GRCh37	19	12788120	12788120	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	22	3	.	.	ENST00000210060.7:c.769C>A	p.Leu257Met	p.L257M	ENST00000210060	NM_001930.3	257	Ctg/Atg	0	1	1	UPI00001293B4	0	getma.org/pdb.php?prot=DHYS_HUMAN&from=42&to=356&var=L257M	ENST00000210060		ENSG00000095059	2869		25	3.27		HGNC	p.L134M		DHPS		SNV							ENST00000597152	protein_coding	getma.org/?cm=var&var=hg19,19,12788120,G,T&fts=all		hmmpanther:PTHR11703,Pfam_domain:PF01916,Gene3D:1rozA00,TIGRFAM_domain:TIGR00321,Superfamily_domains:SSF52467		L/M		T	medium	905/1363		getma.org/?cm=msa&ty=f&p=DHYS_HUMAN&rb=42&re=356&var=L257M	deleterious(0.03)	M0R1T2_HUMAN			YES	DHPS,missense_variant,p.Leu257Met,ENST00000210060,NM_001930.3;DHPS,missense_variant,p.Leu215Met,ENST00000594424,NM_001206974.1;DHPS,missense_variant,p.Leu257Met,ENST00000351660,NM_013406.2;DHPS,missense_variant,p.Leu134Met,ENST00000597152,;DHPS,missense_variant,p.Leu53Met,ENST00000598246,;DHPS,missense_variant,p.Leu59Met,ENST00000600864,;WDR83,downstream_gene_variant,,ENST00000418543,NM_001099737.2;WDR83,downstream_gene_variant,,ENST00000242796,NM_032332.3;WDR83,downstream_gene_variant,,ENST00000547797,;DHPS,downstream_gene_variant,,ENST00000596162,;DHPS,upstream_gene_variant,,ENST00000600639,;DHPS,downstream_gene_variant,,ENST00000599481,;DHPS,missense_variant,p.Leu257Met,ENST00000601537,;DHPS,3_prime_UTR_variant,,ENST00000601639,;DHPS,3_prime_UTR_variant,,ENST00000595912,;DHPS,3_prime_UTR_variant,,ENST00000598850,;DHPS,3_prime_UTR_variant,,ENST00000600451,;DHPS,non_coding_transcript_exon_variant,,ENST00000595844,;DHPS,non_coding_transcript_exon_variant,,ENST00000596847,;DHPS,non_coding_transcript_exon_variant,,ENST00000593400,;WDR83,downstream_gene_variant,,ENST00000546754,;WDR83,downstream_gene_variant,,ENST00000548381,;DHPS,upstream_gene_variant,,ENST00000600510,;WDR83,downstream_gene_variant,,ENST00000553179,;WDR83,downstream_gene_variant,,ENST00000547255,;WDR83,downstream_gene_variant,,ENST00000552700,;WDR83,downstream_gene_variant,,ENST00000425834,;WDR83,downstream_gene_variant,,ENST00000547481,;DHPS,downstream_gene_variant,,ENST00000593473,;WDR83,downstream_gene_variant,,ENST00000551329,;DHPS,downstream_gene_variant,,ENST00000595100,;DHPS,downstream_gene_variant,,ENST00000593432,;DHPS,downstream_gene_variant,,ENST00000593423,;							MODERATE	769/1110	L257M	DHYS_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000210060		CCDS12276.1			1	
H6PD	0	LGGM	GRCh37	1	9305416	9305416	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	3	.	.	ENST00000377403.2:c.423C>A	p.Tyr141Ter	p.Y141*	ENST00000377403	NM_004285.3	141	taC/taA	0	1	1	UPI000013C9AD	0	NA	ENST00000377403		ENSG00000049239	4795		46	0		HGNC	p.Y141X		H6PD		SNV			1				ENST00000377403	protein_coding	getma.org/?cm=var&var=hg19,1,9305416,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF00479,hmmpanther:PTHR23429,hmmpanther:PTHR23429:SF2,Superfamily_domains:SSF51735		Y/*		A	NA	725/9146		NA					YES	H6PD,stop_gained,p.Tyr141Ter,ENST00000377403,NM_004285.3,NM_001282587.1;H6PD,stop_gained,p.Tyr152Ter,ENST00000602477,;							HIGH	423/2376	Y141*	G6PE_HUMAN			Transcript			.	ENSP00000366620		CCDS101.1			1	
PPP1R13B	0	LGGM	GRCh37	14	104212770	104212770	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	33	3	.	.	ENST00000202556.9:c.1090C>A	p.Pro364Thr	p.P364T	ENST00000202556	NM_015316.2	364	Cct/Act	0	1	1	UPI000049DDC7	0	NA	ENST00000202556		ENSG00000088808	14950		36	1.845		HGNC	p.P364T		PPP1R13B		SNV							ENST00000202556	protein_coding	getma.org/?cm=var&var=hg19,14,104212770,G,T&fts=all		hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF5		P/T		T	low	1373/4958		getma.org/?cm=msa&ty=f&p=ASPP1_HUMAN&rb=201&re=400&var=P364T	deleterious(0.01)	G3V5J1_HUMAN			YES	PPP1R13B,missense_variant,p.Pro364Thr,ENST00000202556,NM_015316.2;PPP1R13B,5_prime_UTR_variant,,ENST00000423488,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555991,;PPP1R13B,non_coding_transcript_exon_variant,,ENST00000555183,;PPP1R13B,intron_variant,,ENST00000556325,;PPP1R13B,upstream_gene_variant,,ENST00000555391,;PPP1R13B,downstream_gene_variant,,ENST00000555708,;PPP1R13B,missense_variant,p.Pro20Thr,ENST00000556597,;PPP1R13B,3_prime_UTR_variant,,ENST00000557082,;PPP1R13B,upstream_gene_variant,,ENST00000557744,;							MODERATE	1090/3273	P364T	ASPP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000202556		CCDS41997.1			1	
KIAA1324	0	LGGM	GRCh37	1	109704580	109704580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	14	3	.	.	ENST00000369939.3:c.218C>A	p.Pro73Gln	p.P73Q	ENST00000369939	NM_020775.4	73	cCg/cAg	0	1	1	UPI00002051E0	0	NA	ENST00000369939		ENSG00000116299	29618		17	2.375		HGNC	p.P73Q		KIAA1324		SNV							ENST00000369939	protein_coding	getma.org/?cm=var&var=hg19,1,109704580,C,A&fts=all		hmmpanther:PTHR22727,hmmpanther:PTHR22727:SF13		P/Q		A	medium	401/3442		getma.org/?cm=msa&ty=f&p=K1324_HUMAN&rb=1&re=200&var=P73Q	deleterious(0)	E9PS21_HUMAN,E9PMS2_HUMAN,E9PLY8_HUMAN,E9PLQ2_HUMAN			YES	KIAA1324,missense_variant,p.Pro73Gln,ENST00000369939,NM_020775.4;KIAA1324,missense_variant,p.Pro73Gln,ENST00000529753,NM_001267048.1;KIAA1324,missense_variant,p.Pro73Gln,ENST00000457623,;KIAA1324,missense_variant,p.Pro73Gln,ENST00000531664,;KIAA1324,missense_variant,p.Pro73Gln,ENST00000534476,;KIAA1324,missense_variant,p.Pro73Gln,ENST00000533147,;KIAA1324,missense_variant,p.Pro73Gln,ENST00000526264,;KIAA1324,non_coding_transcript_exon_variant,,ENST00000533374,;KIAA1324,intron_variant,,ENST00000527996,NM_001284352.1;KIAA1324,intron_variant,,ENST00000490758,;							MODERATE	218/3042	P73Q	K1324_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000358955		CCDS794.1			1	
FNDC7	0	LGGM	GRCh37	1	109260573	109260573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	29	3	.	.	ENST00000370017.3:c.257C>A	p.Ala86Glu	p.A86E	ENST00000370017	NM_001144937.1	86	gCa/gAa	0	1	1	UPI000187497A	0	NA	ENST00000370017		ENSG00000143107	26668		32	1.95		HGNC	p.A87E		FNDC7		SNV							ENST00000271311	protein_coding	getma.org/?cm=var&var=hg19,1,109260573,C,A&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853		A/E		A	medium	534/3332		getma.org/?cm=msa&ty=f&p=FNDC7_HUMAN&rb=28&re=106&var=A86E	tolerated(0.31)				YES	FNDC7,missense_variant,p.Ala86Glu,ENST00000370017,NM_001144937.1;FNDC7,missense_variant,p.Ala87Glu,ENST00000271311,;FNDC7,upstream_gene_variant,,ENST00000445274,;							MODERATE	257/2202	A86E	FNDC7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359034		CCDS44185.1			1	
ZFP3	0	LGGM	GRCh37	17	4995056	4995056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	3	.	.	ENST00000318833.3:c.257G>T	p.Arg86Leu	p.R86L	ENST00000318833	NM_153018.2	86	cGg/cTg	0	1	1	UPI0000070244	0	NA	ENST00000318833		ENSG00000180787	12861		35	0		HGNC	p.R86L		ZFP3		SNV							ENST00000318833	protein_coding	getma.org/?cm=var&var=hg19,17,4995056,G,T&fts=all		hmmpanther:PTHR24377:SF113,hmmpanther:PTHR24377		R/L		T	neutral	593/5206		getma.org/?cm=msa&ty=f&p=ZFP3_HUMAN&rb=1&re=140&var=R86L	tolerated(0.58)				YES	ZFP3,missense_variant,p.Arg86Leu,ENST00000318833,NM_153018.2;							MODERATE	257/1509	R86L	ZFP3_HUMAN			Transcript		benign(0)	.	ENSP00000320347		CCDS11067.1			1	
PROS1	0	LGGM	GRCh37	3	93647585	93647585	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	3	.	.	ENST00000394236.3:c.77-1334G>T		*26*	ENST00000394236	NM_000313.3			0	1	1	UPI00001323E8	0		ENST00000394236		ENSG00000184500	9456		35			HGNC	p.V45F		PROS1		SNV			1				ENST00000348974	protein_coding							A		-/3556				Q8IXD5_HUMAN,Q8IXD4_HUMAN,Q8IXD2_HUMAN,Q6J1N0_HUMAN,Q06F35_HUMAN,G5E9F8_HUMAN,C9K0R0_HUMAN,B4E1L6_HUMAN			YES	PROS1,missense_variant,p.Val45Phe,ENST00000348974,;PROS1,intron_variant,,ENST00000394236,NM_000313.3;PROS1,intron_variant,,ENST00000407433,;PROS1,intron_variant,,ENST00000472684,;							MODIFIER	-/2031		PROS_HUMAN			Transcript			.	ENSP00000377783		CCDS2923.1			1	
OLFM3	0	LGGM	GRCh37	1	102462308	102462308	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	42	3	.	.	ENST00000370103.4:c.65C>A	p.Ser22Tyr	p.S22Y	ENST00000370103	NM_058170.2	22	tCc/tAc	0	1	1	UPI000002AF6A	0	NA	ENST00000370103		ENSG00000118733	17990		45	0		HGNC	p.S22Y		OLFM3		SNV							ENST00000370103	protein_coding	getma.org/?cm=var&var=hg19,1,102462308,G,T&fts=all		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF36,Cleavage_site_(Signalp):SignalP-noTM		S/Y		T	neutral	279/3255		getma.org/?cm=msa&ty=f&p=Q5T3V6_HUMAN&rb=1&re=54&var=S22Y	tolerated(0.06)				YES	OLFM3,missense_variant,p.Ser22Tyr,ENST00000370103,NM_058170.2,NM_001288823.1,NM_001288821.1;OLFM3,non_coding_transcript_exon_variant,,ENST00000462354,;							MODERATE	65/1377	S22Y	NOE3_HUMAN			Transcript		benign(0.041)	.	ENSP00000359121		CCDS30781.1			1	
MAN2C1	0	LGGM	GRCh37	15	75654023	75654023	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	33	3	.	.	ENST00000565683.1:c.1140C>A	p.Leu380=	p.L380=	ENST00000565683	NM_001256494.1	380	ctC/ctA	0	1		UPI000012EAC8	0		ENST00000267978		ENSG00000140400	6827		36			HGNC	p.L380L		MAN2C1		SNV							ENST00000267978	protein_coding			hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607,Pfam_domain:PF01074,Gene3D:3.20.110.10,Superfamily_domains:SSF88713		L		T		1187/3284				H3BRV3_HUMAN				MAN2C1,synonymous_variant,p.=,ENST00000565683,NM_001256494.1;MAN2C1,synonymous_variant,p.=,ENST00000267978,NM_006715.3;MAN2C1,synonymous_variant,p.=,ENST00000569482,NM_001256495.1;MAN2C1,synonymous_variant,p.=,ENST00000563622,NM_001256496.1;MAN2C1,downstream_gene_variant,,ENST00000566256,;MAN2C1,downstream_gene_variant,,ENST00000568374,;MAN2C1,downstream_gene_variant,,ENST00000561615,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566253,;MAN2C1,downstream_gene_variant,,ENST00000563539,;MAN2C1,3_prime_UTR_variant,,ENST00000566634,;MAN2C1,3_prime_UTR_variant,,ENST00000421803,;MAN2C1,3_prime_UTR_variant,,ENST00000570257,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564785,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563441,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563013,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000562228,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000563058,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000568944,;MAN2C1,upstream_gene_variant,,ENST00000567163,;MAN2C1,upstream_gene_variant,,ENST00000566099,;MAN2C1,upstream_gene_variant,,ENST00000561693,;MAN2C1,downstream_gene_variant,,ENST00000565534,;MAN2C1,upstream_gene_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000569355,;MAN2C1,upstream_gene_variant,,ENST00000564929,;MAN2C1,upstream_gene_variant,,ENST00000566569,;MAN2C1,upstream_gene_variant,,ENST00000563794,;MAN2C1,upstream_gene_variant,,ENST00000564570,;MAN2C1,upstream_gene_variant,,ENST00000566013,;MAN2C1,upstream_gene_variant,,ENST00000563368,;MAN2C1,downstream_gene_variant,,ENST00000565801,;MAN2C1,upstream_gene_variant,,ENST00000562067,;MAN2C1,downstream_gene_variant,,ENST00000565652,;MAN2C1,upstream_gene_variant,,ENST00000563596,;MAN2C1,downstream_gene_variant,,ENST00000562071,;MAN2C1,upstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000569069,;MAN2C1,downstream_gene_variant,,ENST00000565784,;MAN2C1,upstream_gene_variant,,ENST00000565953,;MAN2C1,downstream_gene_variant,,ENST00000565699,;MAN2C1,upstream_gene_variant,,ENST00000567360,;MAN2C1,upstream_gene_variant,,ENST00000563528,;							LOW	1140/3123		MA2C1_HUMAN			Transcript			.	ENSP00000267978		CCDS32298.1			1	
MAP1B	0	LGGM	GRCh37	5	71492735	71492735	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	30	3	.	.	ENST00000296755.7:c.3553G>T	p.Gly1185Ter	p.G1185*	ENST00000296755	NM_005909.3	1185	Gga/Tga	0	1	1	UPI000013E382	0	NA	ENST00000296755		ENSG00000131711	6836		33	0		HGNC	p.G1185X		MAP1B		SNV							ENST00000296755	protein_coding	getma.org/?cm=var&var=hg19,5,71492735,G,T&fts=all		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		G/*		T	NA	3851/12034		NA		D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,stop_gained,p.Gly1185Ter,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							HIGH	3553/7407	G1185*	MAP1B_HUMAN			Transcript			.	ENSP00000296755		CCDS4012.1			1	
RP11-192H23.4	0	LGGM	GRCh37	17	26940333	26940333	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	39	3	.	.	ENST00000301037.5:c.355G>T	p.Gly119Ter	p.G119*	ENST00000301037	NM_001174103.1	119	Gga/Tga	0	1		UPI0001F77E26	0	NA	ENST00000531839		ENSG00000258472			42	0		Clone_based_vega_gene	p.G119X		RP11-192H23.4		SNV							ENST00000530121	protein_coding	getma.org/?cm=var&var=hg19,17,26940333,C,A&fts=all		Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0		G/*		A	NA	379/1033		NA		E9PMD0_HUMAN			YES	RP11-192H23.4,stop_gained,p.Gly119Ter,ENST00000534850,;SGK494,stop_gained,p.Gly119Ter,ENST00000301037,NM_001174103.1;RP11-192H23.4,stop_gained,p.Gly119Ter,ENST00000531839,;SGK494,stop_gained,p.Gly119Ter,ENST00000530121,;SGK494,stop_gained,p.Gly118Ter,ENST00000525510,;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,;SPAG5-AS1,intron_variant,,ENST00000414744,;SPAG5-AS1,intron_variant,,ENST00000424210,;SPAG5-AS1,intron_variant,,ENST00000554154,;RP11-192H23.6,downstream_gene_variant,,ENST00000579019,;SGK494,non_coding_transcript_exon_variant,,ENST00000469832,;SGK494,non_coding_transcript_exon_variant,,ENST00000526073,;KIAA0100,downstream_gene_variant,,ENST00000579924,;RP11-192H23.4,stop_gained,p.Gly119Ter,ENST00000584196,;RP11-192H23.4,stop_gained,p.Gly119Ter,ENST00000481916,;SGK494,non_coding_transcript_exon_variant,,ENST00000581199,;SGK494,non_coding_transcript_exon_variant,,ENST00000461399,;SGK494,non_coding_transcript_exon_variant,,ENST00000527918,;SGK494,non_coding_transcript_exon_variant,,ENST00000527863,;SGK494,upstream_gene_variant,,ENST00000579457,;SPAG5-AS1,upstream_gene_variant,,ENST00000584675,;SGK494,upstream_gene_variant,,ENST00000494272,;KIAA0100,downstream_gene_variant,,ENST00000583860,;							HIGH	355/1009	G119*				Transcript			.	ENSP00000431165					1	
PRICKLE2	0	LGGM	GRCh37	3	64084835	64084835	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	40	3	.	.	ENST00000295902.6:c.2427G>T	p.Leu809=	p.L809=	ENST00000295902	NM_198859.3	809	ctG/ctT	0	1	1	UPI0000160A8B	0		ENST00000295902		ENSG00000163637	20340		43			HGNC	p.L809L		PRICKLE2		SNV			1				ENST00000295902	protein_coding			hmmpanther:PTHR24218,hmmpanther:PTHR24218:SF5		L		A		3013/8305				C9JY03_HUMAN			YES	PRICKLE2,synonymous_variant,p.=,ENST00000295902,NM_198859.3;PRICKLE2,synonymous_variant,p.=,ENST00000564377,;RP11-129B22.1,non_coding_transcript_exon_variant,,ENST00000482609,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000476308,;PRICKLE2-AS2,upstream_gene_variant,,ENST00000484703,;PRICKLE2-AS1,upstream_gene_variant,,ENST00000460946,;							LOW	2427/2535		PRIC2_HUMAN			Transcript			.	ENSP00000295902		CCDS2902.1			1	
ATP13A3	0	LGGM	GRCh37	3	194146090	194146090	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	30	3	.	.	ENST00000439040.1:c.3294G>T	p.Arg1098Ser	p.R1098S	ENST00000439040		1098	agG/agT	0	1		UPI000049DFC3	0	NA	ENST00000256031		ENSG00000133657	24113		33	2.05		HGNC	p.R1098S		ATP13A3		SNV							ENST00000256031	protein_coding	getma.org/?cm=var&var=hg19,3,194146090,C,A&fts=all		Superfamily_domains:0049473,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,TIGRFAM_domain:TIGR01657		R/S		A	medium	3696/7322		getma.org/?cm=msa&ty=f&p=AT133_HUMAN&rb=1093&re=1226&var=R1098S	deleterious(0)	C9JAP7_HUMAN,C9J7Z7_HUMAN				ATP13A3,missense_variant,p.Arg1098Ser,ENST00000439040,;ATP13A3,missense_variant,p.Arg1098Ser,ENST00000256031,NM_024524.3;ATP13A3,missense_variant,p.Arg4Ser,ENST00000429136,;ATP13A3,upstream_gene_variant,,ENST00000497567,;							MODERATE	3294/3681	R1098S	AT133_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000256031		CCDS43187.1			1	
PLEKHA5	0	LGGM	GRCh37	12	19519041	19519041	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	20	3	.	.	ENST00000429027.2:c.3752C>A	p.Ala1251Glu	p.A1251E	ENST00000429027	NM_001256470.1	1251	gCa/gAa	0	1		UPI0000040B78	0	NA	ENST00000299275		ENSG00000052126	30036		23	0.55		HGNC	p.A1067E		PLEKHA5		SNV							ENST00000543806	protein_coding	getma.org/?cm=var&var=hg19,12,19519041,C,A&fts=all		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3		A/E		A	neutral	3260/4238		getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=918&re=1116&var=A1085E	deleterious(0)	F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN				PLEKHA5,missense_variant,p.Ala1143Glu,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Ala1251Glu,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Ala1148Glu,ENST00000317589,;PLEKHA5,missense_variant,p.Ala1143Glu,ENST00000355397,;PLEKHA5,missense_variant,p.Ala1074Glu,ENST00000424268,;PLEKHA5,missense_variant,p.Ala1085Glu,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Ala1029Glu,ENST00000359180,;PLEKHA5,missense_variant,p.Ala1067Glu,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Ala843Glu,ENST00000539256,;PLEKHA5,missense_variant,p.Ala366Glu,ENST00000538972,;PLEKHA5,downstream_gene_variant,,ENST00000536974,;							MODERATE	3254/3351	A1085E	PKHA5_HUMAN			Transcript		benign(0.087)	.	ENSP00000299275		CCDS8682.1			1	
CCDC88A	0	LGGM	GRCh37	2	55645981	55645981	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	47	3	.	.	ENST00000336838.6:c.135G>T	p.Gly45=	p.G45=	ENST00000336838		45	ggG/ggT	0	1		UPI000150AEEC	0		ENST00000436346		ENSG00000115355	25523		50			HGNC	p.G45G		CCDC88A		SNV							ENST00000436346	protein_coding			Superfamily_domains:0050601,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30		G		A		977/9811				C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,synonymous_variant,p.=,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,synonymous_variant,p.=,ENST00000263630,NM_018084.4;CCDC88A,synonymous_variant,p.=,ENST00000336838,;CCDC88A,synonymous_variant,p.=,ENST00000413716,;CCDC88A,non_coding_transcript_exon_variant,,ENST00000471947,;							LOW	135/5616		GRDN_HUMAN			Transcript			.	ENSP00000410608					1	
EIF2D	0	LGGM	GRCh37	1	206772915	206772915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	47	3	.	.	ENST00000271764.2:c.1104G>T	p.Gln368His	p.Q368H	ENST00000271764	NM_006893.2	368	caG/caT	0	1	1	UPI00000710E1	0	NA	ENST00000271764		ENSG00000143486	6583		50	1.795		HGNC	p.Q368H		EIF2D		SNV							ENST00000271764	protein_coding	getma.org/?cm=var&var=hg19,1,206772915,C,A&fts=all		hmmpanther:PTHR12217:SF4,hmmpanther:PTHR12217		Q/H		A	low	1313/2094		getma.org/?cm=msa&ty=f&p=EIF2D_HUMAN&rb=201&re=400&var=Q368H	tolerated(0.08)				YES	EIF2D,missense_variant,p.Gln368His,ENST00000271764,NM_006893.2;EIF2D,missense_variant,p.Gln244His,ENST00000367114,NM_001201478.1;EIF2D,downstream_gene_variant,,ENST00000437518,;EIF2D,non_coding_transcript_exon_variant,,ENST00000468891,;EIF2D,intron_variant,,ENST00000484492,;EIF2D,upstream_gene_variant,,ENST00000472709,;EIF2D,downstream_gene_variant,,ENST00000461334,;							MODERATE	1104/1755	Q368H	EIF2D_HUMAN			Transcript		benign(0.018)	.	ENSP00000271764		CCDS1465.1			1	
PCNX	0	LGGM	GRCh37	14	71575621	71575621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	44	3	.	.	ENST00000304743.2:c.6602C>A	p.Pro2201Gln	p.P2201Q	ENST00000304743	NM_014982.2	2201	cCa/cAa	0	1	1	UPI000013E9BB	0	NA	ENST00000304743		ENSG00000100731	19740		47	1.935		HGNC	p.P2201Q		PCNX		SNV							ENST00000304743	protein_coding	getma.org/?cm=var&var=hg19,14,71575621,C,A&fts=all		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF2		P/Q		A	medium	7048/12919		getma.org/?cm=msa&ty=f&p=PCX1_HUMAN&rb=2010&re=2209&var=P2201Q	deleterious_low_confidence(0)	Q05BT4_HUMAN			YES	PCNX,missense_variant,p.Pro2201Gln,ENST00000304743,NM_014982.2;PCNX,missense_variant,p.Pro2129Gln,ENST00000238570,;PCNX,missense_variant,p.Pro2090Gln,ENST00000439984,;PCNX,missense_variant,p.Pro1188Gln,ENST00000554691,;PCNX,upstream_gene_variant,,ENST00000555780,;PCNX,non_coding_transcript_exon_variant,,ENST00000556272,;							MODERATE	6602/7026	P2201Q	PCX1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000304192		CCDS9806.1			1	
CXCL16	0	LGGM	GRCh37	17	4638795	4638795	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	20	3	.	.	ENST00000293778.6:c.367C>A	p.His123Asn	p.H123N	ENST00000293778	NM_022059.2	123	Cat/Aat	0	1	1	UPI000013E11E	0	NA	ENST00000293778		ENSG00000161921	16642		23	1.245		HGNC	p.H123N		CXCL16		SNV							ENST00000574412	protein_coding	getma.org/?cm=var&var=hg19,17,4638795,G,T&fts=all		hmmpanther:PTHR14385		H/N		T	low	790/2222		getma.org/?cm=msa&ty=f&p=CXL16_HUMAN&rb=13&re=252&var=H104N	tolerated(0.14)	I3L333_HUMAN			YES	CXCL16,missense_variant,p.His123Asn,ENST00000293778,NM_022059.2;CXCL16,missense_variant,p.His123Asn,ENST00000574412,NM_001100812.1;CXCL16,missense_variant,p.His50Asn,ENST00000573123,;ZMYND15,upstream_gene_variant,,ENST00000433935,NM_001136046.2,NM_001267822.1;ZMYND15,upstream_gene_variant,,ENST00000592813,NM_032265.2;MED11,downstream_gene_variant,,ENST00000293777,NM_001001683.2;MED11,downstream_gene_variant,,ENST00000573708,;MED11,downstream_gene_variant,,ENST00000575284,;RP11-314A20.5,upstream_gene_variant,,ENST00000570493,;CXCL16,non_coding_transcript_exon_variant,,ENST00000576153,;CXCL16,non_coding_transcript_exon_variant,,ENST00000575168,;ZMYND15,upstream_gene_variant,,ENST00000574829,;							MODERATE	367/822	H104N	CXL16_HUMAN			Transcript		benign(0.192)	.	ENSP00000293778		CCDS11052.1			1	
RTTN	0	LGGM	GRCh37	18	67795778	67795778	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	31	3	.	.	ENST00000255674.6:c.2959C>A	p.His987Asn	p.H987N	ENST00000255674	NM_173630.3	987	Cat/Aat	0	1	1	UPI0000201E92	0	NA	ENST00000255674		ENSG00000176225	18654		34	1.065		HGNC	p.H987N		RTTN		SNV			1				ENST00000437017	protein_coding	getma.org/?cm=var&var=hg19,18,67795778,G,T&fts=all		hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691		H/N		T	low	3246/7326		getma.org/?cm=msa&ty=f&p=RTTN_HUMAN&rb=2&re=2221&var=H987N	tolerated(0.38)				YES	RTTN,missense_variant,p.His987Asn,ENST00000255674,NM_173630.3;RTTN,missense_variant,p.His987Asn,ENST00000437017,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;							MODERATE	2959/6681	H987N	RTTN_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000255674		CCDS42443.1			1	
NOS1	0	LGGM	GRCh37	12	117701724	117701724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	3	.	.	ENST00000338101.4:c.2192G>T	p.Arg731Leu	p.R731L	ENST00000338101		731	cGg/cTg	0	1		UPI0000130397	0	NA	ENST00000317775		ENSG00000089250	7872		35	1.935		HGNC	p.R731L		NOS1		SNV			1				ENST00000338101	protein_coding	getma.org/?cm=var&var=hg19,12,117701724,C,A&fts=all		PIRSF_domain:PIRSF000333,hmmpanther:PTHR19384:SF63,hmmpanther:PTHR19384		R/L		A	medium	2878/12158		getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=723&re=761&var=R731L	deleterious(0.03)	B3VK56_HUMAN,A0PJJ7_HUMAN				NOS1,missense_variant,p.Arg731Leu,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Arg731Leu,ENST00000338101,;NOS1,3_prime_UTR_variant,,ENST00000344089,NM_001204213.1,NM_001204214.1;							MODERATE	2192/4305	R731L	NOS1_HUMAN			Transcript		benign(0.393)	.	ENSP00000320758		CCDS41842.1			1	
MAP7	0	LGGM	GRCh37	6	136698982	136698982	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	24	3	.	.	ENST00000454590.1:c.728G>T	p.Trp243Leu	p.W243L	ENST00000454590	NM_001198614.1	243	tGg/tTg	0	1		UPI0000072AD5	0	NA	ENST00000354570		ENSG00000135525	6869		27	1.975		HGNC	p.W221L		MAP7		SNV							ENST00000354570	protein_coding	getma.org/?cm=var&var=hg19,6,136698982,C,A&fts=all		hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4		W/L		A	medium	1073/4152		getma.org/?cm=msa&ty=f&p=MAP7_HUMAN&rb=201&re=400&var=W221L	tolerated(0.06)					MAP7,missense_variant,p.Trp221Leu,ENST00000354570,NM_001198616.1,NM_003980.4,NM_001198617.1,NM_001198619.1;MAP7,missense_variant,p.Trp243Leu,ENST00000454590,NM_001198614.1,NM_001198609.1,NM_001198608.1;MAP7,missense_variant,p.Trp75Leu,ENST00000432797,NM_001198618.1;MAP7,missense_variant,p.Trp206Leu,ENST00000544465,NM_001198615.1;MAP7,missense_variant,p.Trp206Leu,ENST00000438100,NM_001198611.1;							MODERATE	662/2250	W221L	MAP7_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000346581		CCDS5178.1			1	
HECTD4	0	LGGM	GRCh37	12	112630465	112630465	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	11	3	.	.	ENST00000550722.1:c.8753C>A	p.Pro2918Gln	p.P2918Q	ENST00000550722	NM_001109662.3	2918	cCg/cAg	0	1	1	UPI00020CE513	0	NA	ENST00000550722		ENSG00000173064	26611		14	0.895		HGNC	p.P2642Q		HECTD4		SNV							ENST00000430131	protein_coding	getma.org/?cm=var&var=hg19,12,112630465,G,T&fts=all		hmmpanther:PTHR11254:SF286,hmmpanther:PTHR11254		P/Q		T	low	9149/15405		getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=2134&re=3169&var=P2642Q		F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,missense_variant,p.Pro2918Gln,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Pro2642Gln,ENST00000430131,;HECTD4,missense_variant,p.Pro2892Gln,ENST00000377560,;HECTD4,downstream_gene_variant,,ENST00000548896,;							MODERATE	8753/12819	P2642Q				Transcript		probably_damaging(0.988)	.	ENSP00000449784					1	
CHRNB3	0	LGGM	GRCh37	8	42591627	42591627	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	3	.	.	ENST00000289957.2:c.1243G>T	p.Val415Leu	p.V415L	ENST00000289957	NM_000749.3	415	Gta/Tta	0	1	1	UPI0000125272	0	NA	ENST00000289957		ENSG00000147432	1963		37	1.8		HGNC	p.V415L		CHRNB3		SNV							ENST00000289957	protein_coding	getma.org/?cm=var&var=hg19,8,42591627,G,T&fts=all		Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.120.370,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945		V/L		T	low	1371/2294		getma.org/?cm=msa&ty=f&p=ACHB3_HUMAN&rb=240&re=446&var=V415L	deleterious(0)				YES	CHRNB3,missense_variant,p.Val415Leu,ENST00000289957,NM_000749.3;							MODERATE	1243/1377	V415L	ACHB3_HUMAN			Transcript		possibly_damaging(0.718)	.	ENSP00000289957		CCDS6134.1			1	
RNF219	0	LGGM	GRCh37	13	79190431	79190431	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	38	3	.	.	ENST00000282003.6:c.1465G>C	p.Ala489Pro	p.A489P	ENST00000282003	NM_024546.3	489	Gca/Cca	0	1	1	UPI0000458868	0	NA	ENST00000282003		ENSG00000152193	20308		41	1.7		HGNC	p.A489P		RNF219		SNV							ENST00000282003	protein_coding	getma.org/?cm=var&var=hg19,13,79190431,C,G&fts=all		hmmpanther:PTHR14609		A/P		G	low	1524/3529		getma.org/?cm=msa&ty=f&p=RN219_HUMAN&rb=200&re=723&var=A489P	tolerated(0.06)				YES	RNF219,missense_variant,p.Ala489Pro,ENST00000282003,NM_024546.3;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000606429,;RNF219-AS1,non_coding_transcript_exon_variant,,ENST00000560584,;RNF219-AS1,downstream_gene_variant,,ENST00000560209,;							MODERATE	1465/2181	A489P	RN219_HUMAN			Transcript		possibly_damaging(0.584)	.	ENSP00000282003		CCDS31997.1			1	
C16orf54	0	LGGM	GRCh37	16	29755617	29755617	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	8	3	.	.	ENST00000329410.3:c.656G>A	p.Arg219Gln	p.R219Q	ENST00000329410	NM_175900.3	219	cGg/cAg	0	1	1	UPI0000141B48	0	NA	ENST00000329410		ENSG00000185905	26649	9.47E-05	11	0.895		HGNC	p.R219Q	rs771166622	C16orf54		SNV							ENST00000329410	protein_coding	getma.org/?cm=var&var=hg19,16,29755617,C,T&fts=all				R/Q		T	low	752/2585		getma.org/?cm=msa&ty=f&p=CP054_HUMAN&rb=171&re=224&var=R219Q	deleterious_low_confidence(0)				YES	C16orf54,missense_variant,p.Arg219Gln,ENST00000329410,NM_175900.3;AC009133.17,upstream_gene_variant,,ENST00000565600,;							MODERATE	656/675	R219Q	CP054_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000327506	8.33E-06	CCDS10652.1			1	
GMPPB	0	LGGM	GRCh37	3	49759191	49759191	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	18	3	.	.	ENST00000308375.6:c.1158C>A	p.Ile386=	p.I386=	ENST00000308375		386	atC/atA	0	1		UPI000013ED31	0		ENST00000308388		ENSG00000173540	22932		21			HGNC	p.I359I		GMPPB		SNV			1				ENST00000480687	protein_coding			hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF75		I		T		1300/1582								GMPPB,synonymous_variant,p.=,ENST00000480687,;GMPPB,synonymous_variant,p.=,ENST00000308375,;GMPPB,synonymous_variant,p.=,ENST00000308388,NM_013334.3,NM_021971.2;AMIGO3,5_prime_UTR_variant,,ENST00000535833,;IP6K1,downstream_gene_variant,,ENST00000321599,NM_153273.3,NM_001242829.1;RNF123,downstream_gene_variant,,ENST00000327697,NM_022064.3;IP6K1,downstream_gene_variant,,ENST00000395238,NM_001006115.2;AMIGO3,upstream_gene_variant,,ENST00000320431,NM_198722.2;RNF123,downstream_gene_variant,,ENST00000433785,;RNF123,downstream_gene_variant,,ENST00000497099,;RNF123,downstream_gene_variant,,ENST00000487805,;RNF123,downstream_gene_variant,,ENST00000486102,;RNF123,downstream_gene_variant,,ENST00000457726,;GMPPB,downstream_gene_variant,,ENST00000481959,;RNF123,downstream_gene_variant,,ENST00000498376,;GMPPB,downstream_gene_variant,,ENST00000495627,;							LOW	1077/1083		GMPPB_HUMAN			Transcript			.	ENSP00000311130		CCDS2803.1			1	
WDR3	0	LGGM	GRCh37	1	118486216	118486216	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	35	3	.	.	ENST00000349139.5:c.1295C>A	p.Ser432Ter	p.S432*	ENST00000349139	NM_006784.2	432	tCa/tAa	0	1	1	UPI0000138EDC	0	NA	ENST00000349139		ENSG00000065183	12755		38	0		HGNC	p.S432X		WDR3		SNV							ENST00000349139	protein_coding	getma.org/?cm=var&var=hg19,1,118486216,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF0,SMART_domains:SM00320,Superfamily_domains:SSF117289		S/*		A	NA	1342/9974		NA		Q5TDG3_HUMAN,B3KMW5_HUMAN			YES	WDR3,stop_gained,p.Ser432Ter,ENST00000349139,NM_006784.2;WDR3,downstream_gene_variant,,ENST00000369441,;							HIGH	1295/2832	S432*	WDR3_HUMAN			Transcript			.	ENSP00000308179		CCDS898.1			1	
PWP1	0	LGGM	GRCh37	12	108098511	108098511	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	3	.	.	ENST00000412830.3:c.1064C>A	p.Pro355His	p.P355H	ENST00000412830	NM_007062.1	355	cCt/cAt	0	1	1	UPI0000132B9C	0	NA	ENST00000412830		ENSG00000136045	17015		49	3.215		HGNC	p.P293H		PWP1		SNV							ENST00000541166	protein_coding	getma.org/?cm=var&var=hg19,12,108098511,C,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR14091,SMART_domains:SM00320,Superfamily_domains:SSF50978		P/H		A	medium	1232/2621		getma.org/?cm=msa&ty=f&p=PWP1_HUMAN&rb=329&re=374&var=P355H	deleterious(0)	Q86X79_HUMAN,Q05BL3_HUMAN,F8VZ56_HUMAN,B4DJV5_HUMAN			YES	PWP1,missense_variant,p.Pro355His,ENST00000412830,NM_007062.1;PWP1,missense_variant,p.Pro293His,ENST00000541166,;							MODERATE	1064/1506	P355H	PWP1_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000387365		CCDS9114.1			1	
RETSAT	0	LGGM	GRCh37	2	85571268	85571268	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	39	3	.	.	ENST00000295802.4:c.1387C>A	p.Leu463Ile	p.L463I	ENST00000295802	NM_017750.3	463	Ctc/Atc	0	1	1	UPI000003BBD9	0	NA	ENST00000295802		ENSG00000042445	25991		42	1.04		HGNC	p.L402I		RETSAT		SNV							ENST00000457495	protein_coding	getma.org/?cm=var&var=hg19,2,85571268,G,T&fts=all		hmmpanther:PTHR10668,hmmpanther:PTHR10668:SF61		L/I		T	low	1500/3100		getma.org/?cm=msa&ty=f&p=RETST_HUMAN&rb=336&re=535&var=L463I	tolerated(0.15)	I0EZ74_HUMAN			YES	RETSAT,missense_variant,p.Leu463Ile,ENST00000295802,NM_017750.3;RETSAT,missense_variant,p.Leu402Ile,ENST00000457495,;RETSAT,missense_variant,p.Leu252Ile,ENST00000449375,;RETSAT,intron_variant,,ENST00000263854,;RETSAT,intron_variant,,ENST00000475624,;RETSAT,intron_variant,,ENST00000429806,;RETSAT,intron_variant,,ENST00000438611,;PEBP1P2,upstream_gene_variant,,ENST00000603980,;							MODERATE	1387/1833	L463I	RETST_HUMAN			Transcript		benign(0.145)	.	ENSP00000295802		CCDS1972.1			1	
RASAL1	0	LGGM	GRCh37	12	113543608	113543608	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	24	3	.	.	ENST00000546530.1:c.1744G>T	p.Ala582Ser	p.A582S	ENST00000546530	NM_004658.2	582	Gcc/Tcc	0	1		UPI00001FBBA8	0	NA	ENST00000261729		ENSG00000111344	9873		27	-0.895		HGNC	p.A580S		RASAL1		SNV							ENST00000446861	protein_coding	getma.org/?cm=var&var=hg19,12,113543608,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF3,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00323,SMART_domains:SM00233,Superfamily_domains:SSF50729,Superfamily_domains:SSF48350		A/S		A	neutral	2054/3382		getma.org/?cm=msa&ty=f&p=RASL1_HUMAN&rb=566&re=672&var=A580S	tolerated(0.36)					RASAL1,missense_variant,p.Ala582Ser,ENST00000546530,NM_004658.2,NM_001193520.1;RASAL1,missense_variant,p.Ala580Ser,ENST00000261729,;RASAL1,missense_variant,p.Ala580Ser,ENST00000446861,NM_001193521.1;RASAL1,missense_variant,p.Ala581Ser,ENST00000548055,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,downstream_gene_variant,,ENST00000548972,;RASAL1,upstream_gene_variant,,ENST00000549444,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;							MODERATE	1738/2415	A580S	RASL1_HUMAN			Transcript		benign(0.014)	.	ENSP00000261729		CCDS9165.1			1	
SLIT3	0	LGGM	GRCh37	5	168093741	168093741	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	3	.	.	ENST00000520041.1:n.624C>A		*208*	ENST00000520041				0	1	1	UPI00001B0229	0		ENST00000519560		ENSG00000184347	11087		20			HGNC	p.C1464F		SLIT3		SNV							ENST00000404867	protein_coding							A		-/9706							YES	SLIT3,missense_variant,p.Cys1464Phe,ENST00000404867,;SLIT3,intron_variant,,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,intron_variant,,ENST00000332966,;CTC-558O2.2,non_coding_transcript_exon_variant,,ENST00000520041,;							MODIFIER	-/4572		SLIT3_HUMAN			Transcript			.	ENSP00000430333		CCDS4369.1			1	
DISP2	0	LGGM	GRCh37	15	40659292	40659292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	3	.	.	ENST00000267889.3:c.979C>A	p.Gln327Lys	p.Q327K	ENST00000267889	NM_033510.1	327	Cag/Aag	0	1	1	UPI0000160F9B	0	NA	ENST00000267889		ENSG00000140323	19712		37	2.375		HGNC	p.Q327K		DISP2		SNV							ENST00000267889	protein_coding	getma.org/?cm=var&var=hg19,15,40659292,C,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58		Q/K		A	medium	1066/5031		getma.org/?cm=msa&ty=f&p=DISP2_HUMAN&rb=5&re=968&var=Q327K	tolerated(0.06)				YES	DISP2,missense_variant,p.Gln327Lys,ENST00000267889,NM_033510.1;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;							MODERATE	979/4206	Q327K	DISP2_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000267889		CCDS10056.1			1	
ESYT1	0	LGGM	GRCh37	12	56526282	56526282	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	3	.	.	ENST00000541590.1:c.1062C>A	p.Gly354=	p.G354=	ENST00000541590		354	ggC/ggA	0	1		UPI000003E7DD	0		ENST00000394048		ENSG00000139641	29534		37			HGNC	p.G354G		ESYT1		SNV							ENST00000394048	protein_coding			Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF26,SMART_domains:SM00239,Superfamily_domains:SSF49562		G		A		1326/4388				F8VZB1_HUMAN				ESYT1,synonymous_variant,p.=,ENST00000394048,NM_001184796.1,NM_015292.2;ESYT1,synonymous_variant,p.=,ENST00000541590,;ESYT1,synonymous_variant,p.=,ENST00000267113,;ESYT1,downstream_gene_variant,,ENST00000551790,;RP11-603J24.5,upstream_gene_variant,,ENST00000549438,;RP11-603J24.5,upstream_gene_variant,,ENST00000550947,;ESYT1,downstream_gene_variant,,ENST00000550986,;ESYT1,upstream_gene_variant,,ENST00000547667,;ESYT1,downstream_gene_variant,,ENST00000550179,;							LOW	1062/3315		ESYT1_HUMAN			Transcript			.	ENSP00000377612		CCDS8904.1			1	
ARHGAP1	0	LGGM	GRCh37	11	46702231	46702231	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	3	.	.	ENST00000311956.4:c.702G>T	p.Arg234=	p.R234=	ENST00000311956	NM_004308.3	234	cgG/cgT	0	1	1	UPI0000040691	0		ENST00000311956		ENSG00000175220	673		16			HGNC	p.R234R		ARHGAP1		SNV							ENST00000311956	protein_coding			hmmpanther:PTHR23176,hmmpanther:PTHR23176:SF7,Low_complexity_(Seg):seg		R		A		800/3375				E9PNR6_HUMAN			YES	ARHGAP1,synonymous_variant,p.=,ENST00000311956,NM_004308.3;ARHGAP1,synonymous_variant,p.=,ENST00000528837,;ARHGAP1,downstream_gene_variant,,ENST00000525488,;ARHGAP1,non_coding_transcript_exon_variant,,ENST00000526423,;							LOW	702/1320		RHG01_HUMAN			Transcript			.	ENSP00000310491		CCDS7922.1			1	
ZSCAN4	0	LGGM	GRCh37	19	58190015	58190015	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	82	5	.	.	ENST00000318203.5:c.1044C>A	p.Gly348=	p.G348=	ENST00000318203	NM_152677.2	348	ggC/ggA	0	1	1	UPI000006E923	0		ENST00000318203		ENSG00000180532	23709		87			HGNC	p.G348G		ZSCAN4		SNV							ENST00000318203	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF45,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		A		1741/2246							YES	ZSCAN4,synonymous_variant,p.=,ENST00000318203,NM_152677.2;ZNF551,upstream_gene_variant,,ENST00000282296,;ZNF551,upstream_gene_variant,,ENST00000356715,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;							LOW	1044/1302		ZSCA4_HUMAN			Transcript			.	ENSP00000321963		CCDS12958.1			1	
FARP2	0	LGGM	GRCh37	2	242415272	242415272	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	1	4	.	.	ENST00000264042.3:c.2132A>T	p.Asp711Val	p.D711V	ENST00000264042	NM_014808.2	711	gAc/gTc	0	1	1	UPI0000073D5B	0	getma.org/pdb.php?prot=FARP2_HUMAN&from=539&to=725&var=D711V	ENST00000264042		ENSG00000006607	16460		5	1.07		HGNC	p.D711V		FARP2		SNV							ENST00000264042	protein_coding	getma.org/?cm=var&var=hg19,2,242415272,A,T&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58,SMART_domains:SM00325,Superfamily_domains:SSF48065		D/V		T	low	2302/4051		getma.org/?cm=msa&ty=f&p=FARP2_HUMAN&rb=539&re=725&var=D711V	tolerated(0.25)	C9JWM9_HUMAN,C9JVQ5_HUMAN			YES	FARP2,missense_variant,p.Asp711Val,ENST00000264042,NM_014808.2;MIR3133,upstream_gene_variant,,ENST00000583157,;FARP2,splice_region_variant,,ENST00000491425,;AC110299.5,upstream_gene_variant,,ENST00000427818,;							MODERATE	2132/3165	D711V	FARP2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000264042		CCDS33424.1			1	
ARRDC3	0	LGGM	GRCh37	5	90670036	90670036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	68	4	.	.	ENST00000265138.3:c.928G>T	p.Gly310Cys	p.G310C	ENST00000265138	NM_020801.2	310	Ggt/Tgt	0	1	1	UPI000006F2E2	0	NA	ENST00000265138		ENSG00000113369	29263		72	3.15		HGNC	p.G310C		ARRDC3		SNV							ENST00000265138	protein_coding	getma.org/?cm=var&var=hg19,5,90670036,C,A&fts=all		Pfam_domain:PF02752,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF49,SMART_domains:SM01017,Superfamily_domains:SSF81296		G/C		A	medium	1195/4188		getma.org/?cm=msa&ty=f&p=ARRD3_HUMAN&rb=187&re=314&var=G310C	deleterious(0)				YES	ARRDC3,missense_variant,p.Gly310Cys,ENST00000265138,NM_020801.2;ARRDC3,downstream_gene_variant,,ENST00000503192,;ARRDC3,downstream_gene_variant,,ENST00000508948,;ARRDC3,downstream_gene_variant,,ENST00000514284,;ARRDC3,upstream_gene_variant,,ENST00000511391,;ARRDC3,downstream_gene_variant,,ENST00000505631,;ARRDC3,downstream_gene_variant,,ENST00000507075,;							MODERATE	928/1245	G310C	ARRD3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265138		CCDS34202.1			1	
COL8A1	0	LGGM	GRCh37	3	99513150	99513150	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	7	4	.	.	ENST00000261037.3:c.405T>A	p.Pro135=	p.P135=	ENST00000261037	NM_001850.4	135	ccT/ccA	0	1	1	UPI0000126D21	0		ENST00000261037		ENSG00000144810	2215		11			HGNC	p.P135P		COL8A1		SNV							ENST00000261037	protein_coding			hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF61,Low_complexity_(Seg):seg		P		A		785/5705				C9JTN9_HUMAN			YES	COL8A1,synonymous_variant,p.=,ENST00000261037,NM_001850.4;COL8A1,synonymous_variant,p.=,ENST00000273342,NM_020351.3;COL8A1,downstream_gene_variant,,ENST00000452013,;							LOW	405/2235		CO8A1_HUMAN			Transcript			.	ENSP00000261037		CCDS2934.1			1	
NOB1	0	LGGM	GRCh37	16	69782830	69782830	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	7	4	.	.	ENST00000268802.5:c.717C>G	p.Phe239Leu	p.F239L	ENST00000268802	NM_014062.2	239	ttC/ttG	0	1	1	UPI0000034E10	0	NA	ENST00000268802		ENSG00000141101	29540		11	3.3		HGNC	p.F239L		NOB1		SNV							ENST00000268802	protein_coding	getma.org/?cm=var&var=hg19,16,69782830,G,C&fts=all		PIRSF_domain:PIRSF037125,hmmpanther:PTHR12814		F/L		C	medium	747/1734		getma.org/?cm=msa&ty=f&p=NOB1_HUMAN&rb=201&re=258&var=F239L	deleterious(0)				YES	NOB1,missense_variant,p.Phe239Leu,ENST00000268802,NM_014062.2;NOB1,3_prime_UTR_variant,,ENST00000564620,;NOB1,non_coding_transcript_exon_variant,,ENST00000561677,;NOB1,intron_variant,,ENST00000569871,;NOB1,downstream_gene_variant,,ENST00000562416,;NOB1,downstream_gene_variant,,ENST00000563055,;							MODERATE	717/1239	F239L	NOB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000268802		CCDS10884.1			1	
HSD3B7	0	LGGM	GRCh37	16	30999231	30999231	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	4	.	.	ENST00000297679.5:c.837C>A	p.Cys279Ter	p.C279*	ENST00000297679	NM_025193.3	279	tgC/tgA	0	1	1	UPI000007399B	0	NA	ENST00000297679		ENSG00000099377	18324		47	0		HGNC	p.C279X		HSD3B7		SNV			1				ENST00000297679	protein_coding	getma.org/?cm=var&var=hg19,16,30999231,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF290,Superfamily_domains:SSF51735		C/*		A	NA	930/2172		NA		I3L2H6_HUMAN			YES	HSD3B7,stop_gained,p.Cys279Ter,ENST00000297679,NM_025193.3;HSD3B7,3_prime_UTR_variant,,ENST00000262520,NM_001142777.1;HSD3B7,3_prime_UTR_variant,,ENST00000353250,NM_001142778.1;SETD1A,downstream_gene_variant,,ENST00000262519,NM_014712.1;STX1B,downstream_gene_variant,,ENST00000215095,NM_052874.3;STX1B,downstream_gene_variant,,ENST00000569638,;STX1B,downstream_gene_variant,,ENST00000565419,;HSD3B7,downstream_gene_variant,,ENST00000562932,;HSD3B7,downstream_gene_variant,,ENST00000574447,;AC135048.1,upstream_gene_variant,,ENST00000602217,;							HIGH	837/1110	C279*	3BHS7_HUMAN			Transcript			.	ENSP00000297679		CCDS10698.1			1	
FUT10	0	LGGM	GRCh37	8	33318951	33318951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	4	.	.	ENST00000327671.5:c.20G>T	p.Arg7Met	p.R7M	ENST00000327671	NM_032664.3	7	aGg/aTg	0	1	1	UPI00001C0364	0	NA	ENST00000327671		ENSG00000172728	19234		17	1.1		HGNC	p.R7M		FUT10		SNV							ENST00000327671	protein_coding	getma.org/?cm=var&var=hg19,8,33318951,C,A&fts=all		PIRSF_domain:PIRSF037332,hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF131		R/M		A	low	652/3825		getma.org/?cm=msa&ty=f&p=FUT10_HUMAN&rb=7&re=411&var=R7M	deleterious_low_confidence(0)				YES	FUT10,missense_variant,p.Arg7Met,ENST00000327671,NM_032664.3;FUT10,5_prime_UTR_variant,,ENST00000524021,;FUT10,5_prime_UTR_variant,,ENST00000335589,;FUT10,intron_variant,,ENST00000518672,;FUT10,non_coding_transcript_exon_variant,,ENST00000520503,;FUT10,non_coding_transcript_exon_variant,,ENST00000416169,;FUT10,non_coding_transcript_exon_variant,,ENST00000520767,;							MODERATE	20/1440	R7M	FUT10_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000332757		CCDS6088.1			1	
KIAA0141	0	LGGM	GRCh37	5	141312939	141312939	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	4	.	.	ENST00000432126.2:c.870C>A	p.Gly290=	p.G290=	ENST00000432126	NM_014773.3	290	ggC/ggA	0	1		UPI0000139350	0		ENST00000194118		ENSG00000081791	28969		41			HGNC	p.G290G		KIAA0141		SNV							ENST00000194118	protein_coding			hmmpanther:PTHR11102:SF43,hmmpanther:PTHR11102,Gene3D:1.25.40.10,Pfam_domain:PF08238,SMART_domains:SM00671,Superfamily_domains:SSF81901		G		A		957/2203								KIAA0141,synonymous_variant,p.=,ENST00000432126,NM_014773.3,NM_001142603.1;KIAA0141,synonymous_variant,p.=,ENST00000194118,;KIAA0141,synonymous_variant,p.=,ENST00000508751,;KIAA0141,upstream_gene_variant,,ENST00000507481,;KIAA0141,non_coding_transcript_exon_variant,,ENST00000506775,;KIAA0141,non_coding_transcript_exon_variant,,ENST00000502729,;KIAA0141,upstream_gene_variant,,ENST00000509110,;							LOW	870/1548		DELE_HUMAN			Transcript			.	ENSP00000194118		CCDS4268.1			1	
ABHD4	0	LGGM	GRCh37	14	23075438	23075438	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	7	4	.	.	ENST00000428304.2:c.751A>T	p.Ser251Cys	p.S251C	ENST00000428304	NM_022060.2	251	Agt/Tgt	0	1	1	UPI00000493BB	0	getma.org/pdb.php?prot=ABHD4_HUMAN&from=71&to=333&var=S251C	ENST00000428304		ENSG00000100439	20154		11	3.005		HGNC	p.S185C		ABHD4		SNV							ENST00000216327	protein_coding	getma.org/?cm=var&var=hg19,14,23075438,A,T&fts=all		hmmpanther:PTHR10992:SF737,hmmpanther:PTHR10992,Gene3D:3.40.50.1820,Pfam_domain:PF12697,Superfamily_domains:SSF53474		S/C		T	medium	821/2510		getma.org/?cm=msa&ty=f&p=ABHD4_HUMAN&rb=71&re=333&var=S251C	deleterious(0)	F5H6T0_HUMAN,B4DW04_HUMAN			YES	ABHD4,missense_variant,p.Ser251Cys,ENST00000428304,NM_022060.2;ABHD4,missense_variant,p.Ser185Cys,ENST00000216327,;ABHD4,downstream_gene_variant,,ENST00000542041,;ABHD4,downstream_gene_variant,,ENST00000545034,;ABHD4,splice_region_variant,,ENST00000544562,;ABHD4,splice_region_variant,,ENST00000418446,;ABHD4,splice_region_variant,,ENST00000541962,;ABHD4,downstream_gene_variant,,ENST00000539344,;ABHD4,downstream_gene_variant,,ENST00000537243,;							MODERATE	751/1029	S251C	ABHD4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000414558		CCDS9572.1			1	
HNRNPM	0	LGGM	GRCh37	19	8553582	8553582	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	15	4	.	.	ENST00000325495.4:c.2037G>T	p.Val679=	p.V679=	ENST00000325495	NM_005968.4	679	gtG/gtT	0	1	1	UPI000006E7A2	0		ENST00000325495		ENSG00000099783	5046		19			HGNC	p.V640V		HNRNPM		SNV							ENST00000348943	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23003,hmmpanther:PTHR23003:SF6,SMART_domains:SM00360,Superfamily_domains:SSF54928		V		T		2078/2494				Q8TCM5_HUMAN,Q7KYM9_HUMAN			YES	HNRNPM,synonymous_variant,p.=,ENST00000348943,NM_031203.3;HNRNPM,synonymous_variant,p.=,ENST00000325495,NM_005968.4;HNRNPM,3_prime_UTR_variant,,ENST00000596295,;PRAM1,downstream_gene_variant,,ENST00000423345,;PRAM1,downstream_gene_variant,,ENST00000255612,NM_032152.4;HNRNPM,downstream_gene_variant,,ENST00000597270,;HNRNPM,downstream_gene_variant,,ENST00000600092,;HNRNPM,downstream_gene_variant,,ENST00000594907,;HNRNPM,downstream_gene_variant,,ENST00000598999,;HNRNPM,non_coding_transcript_exon_variant,,ENST00000602219,;HNRNPM,downstream_gene_variant,,ENST00000597081,;HNRNPM,3_prime_UTR_variant,,ENST00000600806,;PRAM1,downstream_gene_variant,,ENST00000594696,;HNRNPM,downstream_gene_variant,,ENST00000598603,;PRAM1,downstream_gene_variant,,ENST00000599698,;							LOW	2037/2193		HNRPM_HUMAN			Transcript			.	ENSP00000325376		CCDS12203.1			1	
CDKN1A	0	LGGM	GRCh37	6	36652149	36652149	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	16	4	.	.	ENST00000244741.5:c.271G>T	p.Gly91Ter	p.G91*	ENST00000244741	NM_000389.4	91	Gga/Tga	0	1		UPI0000048F7B	0	NA	ENST00000244741		ENSG00000124762	1784		20	0		HGNC	p.G91X		CDKN1A		SNV			1				ENST00000405375	protein_coding	getma.org/?cm=var&var=hg19,6,36652149,G,T&fts=all		hmmpanther:PTHR10265:SF16,hmmpanther:PTHR10265,Low_complexity_(Seg):seg		G/*		T	NA	417/2180		NA						CDKN1A,stop_gained,p.Gly91Ter,ENST00000405375,NM_001220778.1;CDKN1A,stop_gained,p.Gly91Ter,ENST00000244741,NM_000389.4,NM_001220777.1,NM_078467.2;CDKN1A,stop_gained,p.Gly125Ter,ENST00000448526,;CDKN1A,stop_gained,p.Gly91Ter,ENST00000373711,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000462537,;							HIGH	271/495	G91*	CDN1A_HUMAN			Transcript			.	ENSP00000244741		CCDS4824.1			1	
UTP20	0	LGGM	GRCh37	12	101773237	101773237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	68	4	.	.	ENST00000261637.4:c.7485G>T	p.Gln2495His	p.Q2495H	ENST00000261637	NM_014503.2	2495	caG/caT	0	1	1	UPI00001FB38B	0	NA	ENST00000261637		ENSG00000120800	17897		72	1.5		HGNC	p.Q2495H		UTP20		SNV							ENST00000261637	protein_coding	getma.org/?cm=var&var=hg19,12,101773237,G,T&fts=all		hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371		Q/H		T	low	7659/9025		getma.org/?cm=msa&ty=f&p=UTP20_HUMAN&rb=2465&re=2664&var=Q2495H	tolerated(0.07)				YES	UTP20,missense_variant,p.Gln2495His,ENST00000261637,NM_014503.2;							MODERATE	7485/8358	Q2495H	UTP20_HUMAN			Transcript		benign(0.003)	.	ENSP00000261637		CCDS9081.1			1	
SLC5A9	0	LGGM	GRCh37	1	48699359	48699359	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	7	4	.	.	ENST00000236495.5:c.1141C>A	p.Gln381Lys	p.Q381K	ENST00000236495	NM_001135181.1	381	Caa/Aaa	0	1		UPI0000418E63	0	getma.org/pdb.php?prot=SC5A9_HUMAN&from=67&to=496&var=Q356K	ENST00000438567		ENSG00000117834	22146		11	-0.29		HGNC	p.Q356K		SLC5A9		SNV							ENST00000438567	protein_coding	getma.org/?cm=var&var=hg19,1,48699359,C,A&fts=all		PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF96,hmmpanther:PTHR11819,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813		Q/K		A	neutral	1118/3195		getma.org/?cm=msa&ty=f&p=SC5A9_HUMAN&rb=67&re=496&var=Q356K	tolerated(0.8)					SLC5A9,missense_variant,p.Gln381Lys,ENST00000236495,NM_001135181.1;SLC5A9,missense_variant,p.Gln356Lys,ENST00000438567,NM_001011547.2;SLC5A9,missense_variant,p.Gln377Lys,ENST00000533824,;SLC5A9,3_prime_UTR_variant,,ENST00000420136,;RP5-1024N4.4,upstream_gene_variant,,ENST00000606809,;SLC5A9,upstream_gene_variant,,ENST00000525901,;SLC5A9,3_prime_UTR_variant,,ENST00000425816,;SLC5A9,3_prime_UTR_variant,,ENST00000441260,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;SLC5A9,downstream_gene_variant,,ENST00000527929,;							MODERATE	1066/2046	Q356K	SC5A9_HUMAN			Transcript		benign(0.021)	.	ENSP00000401730		CCDS30709.2			1	
GAS2L3	0	LGGM	GRCh37	12	101018070	101018070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	49	4	.	.	ENST00000539410.1:c.1487C>A	p.Ser496Tyr	p.S496Y	ENST00000539410		496	tCc/tAc	0	1		UPI000000DA3B	0	NA	ENST00000266754		ENSG00000139354	27475		53	1.78		HGNC	p.S392Y	COSM4037928	GAS2L3		SNV						1	ENST00000537247	protein_coding	getma.org/?cm=var&var=hg19,12,101018070,C,A&fts=all		hmmpanther:PTHR11915:SF256,hmmpanther:PTHR11915		S/Y		A	low	1620/2218		getma.org/?cm=msa&ty=f&p=GA2L3_HUMAN&rb=485&re=684&var=S496Y	deleterious(0.02)	H0YIT6_HUMAN,G3V1N3_HUMAN,F8VSB7_HUMAN				GAS2L3,missense_variant,p.Ser392Tyr,ENST00000537247,;GAS2L3,missense_variant,p.Ser496Tyr,ENST00000539410,;GAS2L3,missense_variant,p.Ser496Tyr,ENST00000547754,NM_174942.1;GAS2L3,missense_variant,p.Ser496Tyr,ENST00000266754,;GAS2L3,missense_variant,p.Ser193Tyr,ENST00000552854,;					1		MODERATE	1487/2085	S496Y	GA2L3_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000266754		CCDS9079.1			1	
SFXN1	0	LGGM	GRCh37	5	174939146	174939146	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	58	4	.	.	ENST00000321442.5:c.543C>A	p.Pro181=	p.P181=	ENST00000321442	NM_022754.5	181	ccC/ccA	0	1	1	UPI0000044799	0		ENST00000321442		ENSG00000164466	16085		62			HGNC	p.P181P		SFXN1		SNV							ENST00000506963	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11153:SF21,hmmpanther:PTHR11153,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820		P		A		797/4231				D6RFI0_HUMAN,D6RDG7_HUMAN			YES	SFXN1,synonymous_variant,p.=,ENST00000321442,NM_022754.5;SFXN1,synonymous_variant,p.=,ENST00000506963,;SFXN1,downstream_gene_variant,,ENST00000502393,;SFXN1,downstream_gene_variant,,ENST00000507017,;SFXN1,3_prime_UTR_variant,,ENST00000507823,;SFXN1,3_prime_UTR_variant,,ENST00000502865,;SFXN1,non_coding_transcript_exon_variant,,ENST00000515736,;SFXN1,downstream_gene_variant,,ENST00000513725,;SFXN1,downstream_gene_variant,,ENST00000508290,;							LOW	543/969		SFXN1_HUMAN			Transcript			.	ENSP00000316905		CCDS4394.1			1	
XPO6	0	LGGM	GRCh37	16	28112855	28112855	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	31	4	.	.	ENST00000304658.5:c.3200C>A	p.Pro1067Gln	p.P1067Q	ENST00000304658	NM_015171.3	1067	cCa/cAa	0	1	1	UPI000006F228	0	NA	ENST00000304658		ENSG00000169180	19733		35	1.11		HGNC	p.P1053Q		XPO6		SNV							ENST00000565698	protein_coding	getma.org/?cm=var&var=hg19,16,28112855,G,T&fts=all		hmmpanther:PTHR21452,Superfamily_domains:SSF48371		P/Q		T	low	3701/4422		getma.org/?cm=msa&ty=f&p=XPO6_HUMAN&rb=891&re=1090&var=P1067Q	tolerated(0.17)	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN			YES	XPO6,missense_variant,p.Pro1067Gln,ENST00000304658,NM_015171.3;XPO6,missense_variant,p.Pro1053Gln,ENST00000565698,NM_001270940.1;XPO6,missense_variant,p.Pro81Gln,ENST00000568065,;XPO6,missense_variant,p.Pro75Gln,ENST00000569315,;XPO6,downstream_gene_variant,,ENST00000573275,;XPO6,non_coding_transcript_exon_variant,,ENST00000567038,;XPO6,downstream_gene_variant,,ENST00000570007,;							MODERATE	3200/3378	P1067Q	XPO6_HUMAN			Transcript		benign(0.12)	.	ENSP00000302790		CCDS42135.1			1	
NEK4	0	LGGM	GRCh37	3	52745865	52745865	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	91	4	.	.	ENST00000233027.5:c.2454G>T	p.Met818Ile	p.M818I	ENST00000233027	NM_001193533.1	818	atG/atT	0	1	1	UPI000013C96A	0	NA	ENST00000233027		ENSG00000114904	11399		95	1.67		HGNC	p.M818I		NEK4		SNV							ENST00000233027	protein_coding	getma.org/?cm=var&var=hg19,3,52745865,C,A&fts=all				M/I		A	low	2657/3722		getma.org/?cm=msa&ty=f&p=NEK4_HUMAN&rb=791&re=841&var=M818I	deleterious(0.02)				YES	NEK4,missense_variant,p.Met818Ile,ENST00000233027,NM_001193533.1,NM_003157.4;NEK4,missense_variant,p.Met729Ile,ENST00000535191,;SPCS1,downstream_gene_variant,,ENST00000233025,NM_014041.3;SPCS1,downstream_gene_variant,,ENST00000602728,;SPCS1,downstream_gene_variant,,ENST00000423431,;SPCS1,downstream_gene_variant,,ENST00000474945,;SPCS1,downstream_gene_variant,,ENST00000448693,;							MODERATE	2454/2526	M818I	NEK4_HUMAN			Transcript		benign(0.049)	.	ENSP00000233027		CCDS2863.1			1	
DKFZP779J2370	0	LGGM	GRCh37	15	100257001	100257001	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	4	.	.	ENST00000378904.2:c.2T>C	p.Met1?	p.M1?	ENST00000378904		1	aTg/aCg	0	1	1	UPI00001A8388	0		ENST00000378904		ENSG00000214397			21			Uniprot_gn	p.M1T		DKFZP779J2370		SNV							ENST00000378904	protein_coding					M/T		G		1029/2122				Q6MZR2_HUMAN			YES	DKFZP779J2370,start_lost,p.Met1?,ENST00000378904,;MEF2A,downstream_gene_variant,,ENST00000354410,NM_005587.2;MEF2A,downstream_gene_variant,,ENST00000338042,;MEF2A,downstream_gene_variant,,ENST00000557942,;MEF2A,downstream_gene_variant,,ENST00000453228,;MEF2A,downstream_gene_variant,,ENST00000449277,NM_001130928.1,NM_001130926.1;MEF2A,downstream_gene_variant,,ENST00000557785,NM_001171894.1;MEF2A,downstream_gene_variant,,ENST00000558812,NM_001130927.1;LYSMD4,non_coding_transcript_exon_variant,,ENST00000604213,;LYSMD4,non_coding_transcript_exon_variant,,ENST00000496108,;MEF2A,downstream_gene_variant,,ENST00000561125,;							HIGH	2/396					Transcript		unknown(0)	.	ENSP00000368184					1	
TPR	0	LGGM	GRCh37	1	186306231	186306231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	70	4	.	.	ENST00000367478.4:c.4420C>A	p.Gln1474Lys	p.Q1474K	ENST00000367478	NM_003292.2	1474	Cag/Aag	0	1	1	UPI000046FCF4	0	NA	ENST00000367478		ENSG00000047410	12017		74	0.85		HGNC	p.Q1474K		TPR		SNV			1				ENST00000367478	protein_coding	getma.org/?cm=var&var=hg19,1,186306231,G,T&fts=all		Gene3D:1.10.287.40,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18898		Q/K		T	low	4717/9708		getma.org/?cm=msa&ty=f&p=TPR_HUMAN&rb=1272&re=1616&var=Q1474K		Q9UE33_HUMAN			YES	TPR,missense_variant,p.Gln1474Lys,ENST00000367478,NM_003292.2;TPR,downstream_gene_variant,,ENST00000481347,;							MODERATE	4420/7092	Q1474K	TPR_HUMAN			Transcript		benign(0.042)	.	ENSP00000356448		CCDS41446.1			1	
SOAT1	0	LGGM	GRCh37	1	179318062	179318062	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	62	4	.	.	ENST00000367619.3:c.1299C>A	p.Tyr433Ter	p.Y433*	ENST00000367619	NM_003101.5	433	taC/taA	0	1	1	UPI0000071233	0	NA	ENST00000367619		ENSG00000057252	11177		66	0		HGNC	p.Y368X		SOAT1		SNV							ENST00000539888	protein_coding	getma.org/?cm=var&var=hg19,1,179318062,C,A&fts=all		Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF6		Y/*		A	NA	1442/6835		NA		B4DFD8_HUMAN,B1APM4_HUMAN			YES	SOAT1,stop_gained,p.Tyr433Ter,ENST00000367619,NM_003101.5;SOAT1,stop_gained,p.Tyr375Ter,ENST00000540564,NM_001252511.1;SOAT1,stop_gained,p.Tyr169Ter,ENST00000535686,;SOAT1,stop_gained,p.Tyr368Ter,ENST00000539888,NM_001252512.1;							HIGH	1299/1653	Y433*	SOAT1_HUMAN			Transcript			.	ENSP00000356591		CCDS1330.1			1	
ITGA9	0	LGGM	GRCh37	3	37535990	37535990	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	6	5	.	.	ENST00000264741.5:c.545-2A>T		p.X182_splice	ENST00000264741	NM_002207.2			0	1	1	UPI00001AE8BB	0		ENST00000264741		ENSG00000144668	6145		11			HGNC	-		ITGA9		SNV			1				ENST00000422441	protein_coding							T		-/7889							YES	ITGA9,splice_acceptor_variant,,ENST00000264741,NM_002207.2;ITGA9,splice_acceptor_variant,,ENST00000422441,;							HIGH	545/3108		ITA9_HUMAN			Transcript			.	ENSP00000264741		CCDS2669.1			1	
MAML2	0	LGGM	GRCh37	11	96074919	96074919	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	5	5	.	.	ENST00000524717.1:c.141C>T	p.Cys47=	p.C47=	ENST00000524717	NM_032427.1	47	tgC/tgT	0	1	1	UPI00001B4EFC	0		ENST00000524717		ENSG00000184384	16259		10			HGNC	p.C47C		MAML2		SNV							ENST00000524717	protein_coding			Pfam_domain:PF09596,hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9		C		A		1426/7106							YES	MAML2,synonymous_variant,p.=,ENST00000524717,NM_032427.1;MIR1260B,downstream_gene_variant,,ENST00000582890,;							LOW	141/3471		MAML2_HUMAN			Transcript			.	ENSP00000434552		CCDS44714.1			1	
APOA1	0	LGGM	GRCh37	11	116706652	116706652	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	10	5	.	.	ENST00000236850.4:c.676A>G	p.Thr226Ala	p.T226A	ENST00000236850	NM_000039.1	226	Acg/Gcg	0	1	1	UPI000002C911	0	getma.org/pdb.php?prot=APOA1_HUMAN&from=68&to=267&var=T226A	ENST00000236850		ENSG00000118137	600		15	-1.835		HGNC	p.T226A		APOA1		SNV			1				ENST00000236850	protein_coding	getma.org/?cm=var&var=hg19,11,116706652,T,C&fts=all		Superfamily_domains:0053393,Pfam_domain:PF01442,hmmpanther:PTHR18976:SF11,hmmpanther:PTHR18976		T/A		C	neutral	1042/1227		getma.org/?cm=msa&ty=f&p=APOA1_HUMAN&rb=68&re=267&var=T226A	tolerated(1)				YES	APOA1,missense_variant,p.Thr226Ala,ENST00000236850,NM_000039.1;APOA1,missense_variant,p.Thr226Ala,ENST00000375323,;APOA1,missense_variant,p.Thr226Ala,ENST00000375320,;APOA1,missense_variant,p.Thr226Ala,ENST00000359492,;APOA1,missense_variant,p.Thr204Ala,ENST00000375329,;APOC3,downstream_gene_variant,,ENST00000375345,;APOC3,downstream_gene_variant,,ENST00000227667,NM_000040.1;APOA1-AS,upstream_gene_variant,,ENST00000444200,;APOC3,downstream_gene_variant,,ENST00000470144,;							MODERATE	676/804	T226A	APOA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000236850		CCDS8378.1			1	
PTPN14	0	LGGM	GRCh37	1	214556742	214556742	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	73	5	.	.	ENST00000366956.5:c.2456G>T	p.Arg819Leu	p.R819L	ENST00000366956	NM_005401.4	819	cGg/cTg	0	1	1	UPI000013DCA6	0	NA	ENST00000366956		ENSG00000152104	9647		78	2.33		HGNC	p.R819L		PTPN14		SNV			1				ENST00000366956	protein_coding	getma.org/?cm=var&var=hg19,1,214556742,C,A&fts=all		PIRSF_domain:PIRSF000934,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF77,Low_complexity_(Seg):seg		R/L		A	medium	2651/12985		getma.org/?cm=msa&ty=f&p=PTN14_HUMAN&rb=710&re=909&var=R819L	deleterious(0.04)				YES	PTPN14,missense_variant,p.Arg819Leu,ENST00000366956,NM_005401.4;PTPN14,3_prime_UTR_variant,,ENST00000543945,;							MODERATE	2456/3564	R819L	PTN14_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355923		CCDS1514.1			1	
IGHA2	0	LGGM	GRCh37	14	106054432	106054432	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	7	5	.	.	ENST00000390539.2:c.301T>A	p.Cys101Ser	p.C101S	ENST00000390539		101	Tgc/Agc	0	1	1	UPI00001AF33D	0		ENST00000390539		ENSG00000211890	5479		12			HGNC	p.C101S		IGHA2		SNV							ENST00000390539	IG_C_gene			Low_complexity_(Seg):seg,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF68		C/S		T		301/1071			tolerated(0.14)				YES	IGHA2,missense_variant,p.Cys101Ser,ENST00000390539,;AL928742.1,downstream_gene_variant,,ENST00000581377,;AL928742.2,downstream_gene_variant,,ENST00000578042,;							MODERATE	301/1023					Transcript		possibly_damaging(0.716)	.	ENSP00000374981					1	
AC140481.2	0	LGGM	GRCh37	2	131331979	131331979	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	45	5	.	.	ENST00000409982.1:c.54G>T	p.Met18Ile	p.M18I	ENST00000409982		18	atG/atT	0	1	1	UPI000188179A	0		ENST00000409982		ENSG00000183292			50			Clone_based_vega_gene	p.M18I		AC140481.2		SNV							ENST00000409982	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF14,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		M/I		T		225/1039			tolerated(0.15)	B9A030_HUMAN			YES	AC140481.2,missense_variant,p.Met18Ile,ENST00000409982,;AC140481.2,missense_variant,p.Met26Ile,ENST00000440359,;AC140481.2,missense_variant,p.Met18Ile,ENST00000409793,;AC140481.2,intron_variant,,ENST00000419965,;AC140481.2,intron_variant,,ENST00000414595,;							MODERATE	54/483					Transcript		possibly_damaging(0.718)	.	ENSP00000387081					1	
ABCC8	0	LGGM	GRCh37	11	17428599	17428599	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	5	.	.	ENST00000389817.3:c.2998T>A	p.Cys1000Ser	p.C1000S	ENST00000389817		1000	Tgc/Agc	0	1	1	UPI0000DBEF32	0	NA	ENST00000389817		ENSG00000006071	59		18	2.135		HGNC	p.C1000S	rs768341750	ABCC8	6.07E-05	SNV			1				ENST00000389817	protein_coding	getma.org/?cm=var&var=hg19,11,17428599,A,T&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187		C/S		T	medium	3067/4921		getma.org/?cm=msa&ty=f&p=ABCC8_HUMAN&rb=858&re=1011&var=C1000S	tolerated(0.21)				YES	ABCC8,missense_variant,p.Cys1001Ser,ENST00000302539,NM_000352.3,NM_001287174.1;ABCC8,missense_variant,p.Cys1000Ser,ENST00000389817,;ABCC8,upstream_gene_variant,,ENST00000528374,;ABCC8,synonymous_variant,p.=,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000526921,;ABCC8,non_coding_transcript_exon_variant,,ENST00000529967,;ABCC8,non_coding_transcript_exon_variant,,ENST00000524561,;ABCC8,downstream_gene_variant,,ENST00000531911,;ABCC8,upstream_gene_variant,,ENST00000531137,;ABCC8,downstream_gene_variant,,ENST00000530147,;ABCC8,upstream_gene_variant,,ENST00000531891,;							MODERATE	2998/4746	C1000S	ABCC8_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000374467	8.24E-06	CCDS31437.1			1	
CTB-167G5.5	0	LGGM	GRCh37	19	54105419	54105419	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	4	6	.	.	ENST00000600193.1:c.39-2A>T		p.X13_splice	ENST00000600193				0	1	1	UPI00000528A1	0		ENST00000600193		ENSG00000268864			10			Clone_based_vega_gene	-		CTB-167G5.5		SNV							ENST00000600193	protein_coding							A		-/1228				M0QY13_HUMAN			YES	CTB-167G5.5,splice_acceptor_variant,,ENST00000600193,;CTB-167G5.6,downstream_gene_variant,,ENST00000599707,;							HIGH	39/429					Transcript			.	ENSP00000469517					1	
TNS1	0	LGGM	GRCh37	2	218683136	218683136	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	10	6	.	.	ENST00000171887.4:c.3607A>T	p.Ser1203Cys	p.S1203C	ENST00000171887	NM_022648.4	1203	Agc/Tgc	0	1	1	UPI0000456EEB	0	NA	ENST00000171887		ENSG00000079308	11973		16	0		HGNC	p.S1190C		TNS1		SNV							ENST00000419504	protein_coding	getma.org/?cm=var&var=hg19,2,218683136,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40		S/C		A	neutral	4060/10331		getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=1107&re=1306&var=S1203C	deleterious(0.02)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN			YES	TNS1,missense_variant,p.Ser1203Cys,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Ser1190Cys,ENST00000419504,;TNS1,missense_variant,p.Ser1182Cys,ENST00000430930,;TNS1,missense_variant,p.Ser341Cys,ENST00000446688,;TNS1,upstream_gene_variant,,ENST00000490566,;TNS1,upstream_gene_variant,,ENST00000495556,;							MODERATE	3607/5208	S1203C	TENS1_HUMAN			Transcript		benign(0.345)	.	ENSP00000171887		CCDS2407.1			1	
EXT1	0	LGGM	GRCh37	8	119122687	119122687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	80	6	.	.	ENST00000378204.2:c.599G>T	p.Trp200Leu	p.W200L	ENST00000378204	NM_000127.2	200	tGg/tTg	0	1	1	UPI000012A3A1	0	NA	ENST00000378204		ENSG00000182197	3512		86	2.535		HGNC	p.W200L		EXT1		SNV			1				ENST00000378204	protein_coding	getma.org/?cm=var&var=hg19,8,119122687,C,A&fts=all		Pfam_domain:PF03016,hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF45		W/L		A	medium	1406/8270		getma.org/?cm=msa&ty=f&p=EXT1_HUMAN&rb=110&re=396&var=W200L	deleterious(0.03)	T2FFJ4_HUMAN,S5Y321_HUMAN,D7RTA7_HUMAN			YES	EXT1,missense_variant,p.Trp200Leu,ENST00000378204,NM_000127.2;EXT1,upstream_gene_variant,,ENST00000436216,;EXT1,intron_variant,,ENST00000437196,;							MODERATE	599/2241	W200L	EXT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367446		CCDS6324.1			1	
CCRL2	0	LGGM	GRCh37	3	46449813	46449813	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	14	6	.	.	ENST00000357392.4:c.279A>T	p.Ala93=	p.A93=	ENST00000357392	NM_001130910.1	93	gcA/gcT	0	1		UPI0000151489	0		ENST00000399036		ENSG00000121797	1612		20			HGNC	p.A93A		CCRL2		SNV							ENST00000357392	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF65,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		T		595/1796				C9JP23_HUMAN,B2R8C0_HUMAN				CCRL2,synonymous_variant,p.=,ENST00000399036,NM_003965.4;CCRL2,synonymous_variant,p.=,ENST00000400882,;CCRL2,synonymous_variant,p.=,ENST00000357392,NM_001130910.1;CCRL2,synonymous_variant,p.=,ENST00000400880,;CCRL2,synonymous_variant,p.=,ENST00000433848,;RP11-24F11.2,upstream_gene_variant,,ENST00000451485,;CCRL2,upstream_gene_variant,,ENST00000441909,;CCRL2,downstream_gene_variant,,ENST00000495870,;							LOW	243/1035		CCRL2_HUMAN			Transcript			.	ENSP00000381994		CCDS43079.1			1	
POM121L12	0	LGGM	GRCh37	7	53103722	53103722	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	5	7	.	.	ENST00000408890.4:c.358A>T	p.Met120Leu	p.M120L	ENST00000408890	NM_182595.3	120	Atg/Ttg	0	1	1	UPI00001B6540	0	NA	ENST00000408890		ENSG00000221900	25369		12	0		HGNC	p.M120L		POM121L12		SNV							ENST00000408890	protein_coding	getma.org/?cm=var&var=hg19,7,53103722,A,T&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF25		M/L		T	neutral	374/1269		getma.org/?cm=msa&ty=f&p=P1L12_HUMAN&rb=2&re=294&var=M120L	tolerated(0.79)				YES	POM121L12,missense_variant,p.Met120Leu,ENST00000408890,NM_182595.3;							MODERATE	358/891	M120L	P1L12_HUMAN			Transcript		benign(0.14)	.	ENSP00000386133		CCDS43584.1			1	
SCNN1B	0	LGGM	GRCh37	16	23391492	23391492	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	22	8	.	.	ENST00000343070.2:c.1542+2T>A		p.X514_splice	ENST00000343070	NM_000336.2			0	1	1	UPI0000135616	0		ENST00000343070		ENSG00000168447	10600		30			HGNC	-		SCNN1B		SNV			1				ENST00000343070	protein_coding							A		-/2597				B2R812_HUMAN			YES	SCNN1B,splice_donor_variant,,ENST00000343070,NM_000336.2;SCNN1B,splice_donor_variant,,ENST00000307331,;SCNN1B,splice_donor_variant,,ENST00000568923,;SCNN1B,splice_donor_variant,,ENST00000568085,;SCNN1B,splice_donor_variant,,ENST00000564275,;							HIGH	1542/1923		SCNNB_HUMAN			Transcript			.	ENSP00000345751		CCDS10609.1			1	
ERRFI1	0	LGGM	GRCh37	1	8073926	8073926	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	19	8	.	.	ENST00000377482.5:c.733A>T	p.Arg245Ter	p.R245*	ENST00000377482	NM_018948.3	245	Aga/Tga	0	1	1	UPI000012F0FC	0	NA	ENST00000377482		ENSG00000116285	18185		27	0		HGNC	p.R245X		ERRFI1		SNV							ENST00000377482	protein_coding	getma.org/?cm=var&var=hg19,1,8073926,T,A&fts=all		hmmpanther:PTHR14254		R/*		A	NA	957/3104		NA		I6S2Y9_HUMAN			YES	ERRFI1,stop_gained,p.Arg245Ter,ENST00000377482,NM_018948.3;ERRFI1,3_prime_UTR_variant,,ENST00000467067,;ERRFI1,3_prime_UTR_variant,,ENST00000469499,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,downstream_gene_variant,,ENST00000487559,;							HIGH	733/1389	R245*	ERRFI_HUMAN			Transcript			.	ENSP00000366702		CCDS94.1			1	
NWD1	0	LGGM	GRCh37	19	16872822	16872822	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	8	.	.	ENST00000524140.2:c.2006T>G	p.Leu669Arg	p.L669R	ENST00000524140	NM_001007525.3	669	cTg/cGg	0	1		UPI0001AE63B7	0	NA	ENST00000552788		ENSG00000188039	27619		29	2.92		HGNC	p.L669R		NWD1		SNV							ENST00000549814	protein_coding	getma.org/?cm=var&var=hg19,19,16872822,T,G&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273		L/R		G	medium	2006/6964		getma.org/?cm=msa&ty=f&p=NWD1_HUMAN&rb=512&re=711&var=L669R	deleterious(0)	E9PBV1_HUMAN				NWD1,missense_variant,p.Leu669Arg,ENST00000524140,NM_001007525.3;NWD1,missense_variant,p.Leu669Arg,ENST00000552788,;NWD1,missense_variant,p.Leu669Arg,ENST00000549814,;NWD1,missense_variant,p.Leu463Arg,ENST00000523826,;NWD1,missense_variant,p.Leu669Arg,ENST00000379808,;NWD1,missense_variant,p.Leu534Arg,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							MODERATE	2006/4695	L669R	NWD1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000447224					1	
MAPKBP1	0	LGGM	GRCh37	15	42067562	42067562	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	16	8	.	.	ENST00000456763.2:c.89A>T	p.Asn30Ile	p.N30I	ENST00000456763	NM_001128608.1	30	aAc/aTc	0	1	1	UPI00002375CB	0	NA	ENST00000456763		ENSG00000137802	29536		24	0.69		HGNC	p.N30I		MAPKBP1		SNV							ENST00000505373	protein_coding	getma.org/?cm=var&var=hg19,15,42067562,A,T&fts=all		hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847		N/I		T	neutral	285/7158		getma.org/?cm=msa&ty=f&p=MABP1_HUMAN&rb=1&re=79&var=N30I	tolerated(0.16)	D6R9F7_HUMAN			YES	MAPKBP1,missense_variant,p.Asn30Ile,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Asn30Ile,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Asn30Ile,ENST00000221214,;MAPKBP1,missense_variant,p.Asn30Ile,ENST00000514566,NM_001265611.1;MAPKBP1,missense_variant,p.Asn30Ile,ENST00000510535,;MAPKBP1,5_prime_UTR_variant,,ENST00000260357,;RP11-107F6.3,upstream_gene_variant,,ENST00000562063,;RP11-107F6.3,upstream_gene_variant,,ENST00000607504,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Asn30Ile,ENST00000512970,;MAPKBP1,missense_variant,p.Asn30Ile,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;							MODERATE	89/4545	N30I	MABP1_HUMAN			Transcript		benign(0.042)	.	ENSP00000393099		CCDS45239.1			1	
C1orf186	0	LGGM	GRCh37	1	206239538	206239538	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	8	.	.	ENST00000331555.5:c.360C>A	p.Asp120Glu	p.D120E	ENST00000331555	NM_001007544.2	120	gaC/gaA	0	1	1	UPI0000039E60	0	NA	ENST00000331555		ENSG00000196533	25341		29	0.345		HGNC	p.D120E	rs781971472	C1orf186		SNV							ENST00000331555	protein_coding	getma.org/?cm=var&var=hg19,1,206239538,G,T&fts=all				D/E		T	neutral	999/1665		getma.org/?cm=msa&ty=f&p=CA186_HUMAN&rb=3&re=170&var=D120E	deleterious(0.02)				YES	C1orf186,missense_variant,p.Asp120Glu,ENST00000331555,NM_001007544.2;	0.00012						MODERATE	360/519	D120E	CA186_HUMAN			Transcript		benign(0.032)	.	ENSP00000356093	8.24E-06	CCDS30995.1			1	
DNMT3B	0	LGGM	GRCh37	20	31375228	31375228	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	6	8	.	.	ENST00000328111.2:c.625A>T	p.Ser209Cys	p.S209C	ENST00000328111	NM_006892.3	209	Agt/Tgt	0	1	1	UPI0000001046	0	NA	ENST00000328111		ENSG00000088305	2979		14	1.735		HGNC	p.S221C		DNMT3B		SNV			1				ENST00000201963	protein_coding	getma.org/?cm=var&var=hg19,20,31375228,A,T&fts=all		hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068		S/C		T	low	946/4336		getma.org/?cm=msa&ty=f&p=DNM3B_HUMAN&rb=171&re=251&var=S209C	deleterious(0.02)				YES	DNMT3B,missense_variant,p.Ser209Cys,ENST00000328111,NM_006892.3;DNMT3B,missense_variant,p.Ser221Cys,ENST00000201963,NM_175850.2;DNMT3B,missense_variant,p.Ser209Cys,ENST00000353855,NM_175848.1;DNMT3B,missense_variant,p.Ser209Cys,ENST00000348286,NM_175849.1,NM_001207055.1;DNMT3B,missense_variant,p.Ser209Cys,ENST00000344505,;DNMT3B,missense_variant,p.Ser167Cys,ENST00000443239,;DNMT3B,missense_variant,p.Ser133Cys,ENST00000456297,NM_001207056.1;DNMT3B,missense_variant,p.Ser167Cys,ENST00000375623,;							MODERATE	625/2562	S209C	DNM3B_HUMAN			Transcript		benign(0.195)	.	ENSP00000328547		CCDS13205.1			1	
ABCA3	0	LGGM	GRCh37	16	2342234	2342234	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	9	.	.	ENST00000301732.5:c.2420A>T	p.Glu807Val	p.E807V	ENST00000301732	NM_001089.2	807	gAa/gTa	0	1	1	UPI0000001232	0	NA	ENST00000301732		ENSG00000167972	33		30	2.035		HGNC	p.E749V		ABCA3		SNV			1				ENST00000382381	protein_coding	getma.org/?cm=var&var=hg19,16,2342234,T,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF98		E/V		A	medium	3121/6609		getma.org/?cm=msa&ty=f&p=ABCA3_HUMAN&rb=757&re=845&var=E807V	deleterious(0.02)				YES	ABCA3,missense_variant,p.Glu807Val,ENST00000301732,NM_001089.2;ABCA3,missense_variant,p.Glu749Val,ENST00000382381,;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,;							MODERATE	2420/5115	E807V	ABCA3_HUMAN			Transcript		possibly_damaging(0.514)	.	ENSP00000301732		CCDS10466.1			1	
FNDC7	0	LGGM	GRCh37	1	109265159	109265159	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	9	.	.	ENST00000370017.3:c.801del	p.Ala268GlnfsTer14	p.A268Qfs*14	ENST00000370017	NM_001144937.1	267	ttA/tt	0	1	1	UPI000187497A	0		ENST00000370017		ENSG00000143107	26668		26			HGNC	p.L268fs		FNDC7		deletion							ENST00000271311	protein_coding			Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853		L/X		-		1078/3332							YES	FNDC7,frameshift_variant,p.Ala268GlnfsTer14,ENST00000370017,NM_001144937.1;FNDC7,frameshift_variant,p.Ala269GlnfsTer14,ENST00000271311,;FNDC7,frameshift_variant,p.Ala44GlnfsTer14,ENST00000445274,;							HIGH	801/2202		FNDC7_HUMAN			Transcript			.	ENSP00000359034		CCDS44185.1			1	
SLC14A1	0	LGGM	GRCh37	18	43316590	43316590	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	18	9	.	.	ENST00000436407.3:c.808T>A	p.Trp270Arg	p.W270R	ENST00000436407	NM_001146037.1	270	Tgg/Agg	0	1		UPI0000137E5D	0	getma.org/pdb.php?prot=UT1_HUMAN&from=57&to=361&var=W214R	ENST00000321925		ENSG00000141469	10918		27	3.365		HGNC	p.W82R		SLC14A1		SNV			1				ENST00000589322	protein_coding	getma.org/?cm=var&var=hg19,18,43316590,T,A&fts=all		hmmpanther:PTHR10464,Gene3D:1.10.3430.10,Pfam_domain:PF03253,PIRSF_domain:PIRSF016502		W/R		A	medium	872/3971		getma.org/?cm=msa&ty=f&p=UT1_HUMAN&rb=57&re=361&var=W214R	deleterious(0.01)	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				SLC14A1,missense_variant,p.Trp214Arg,ENST00000321925,NM_001128588.3,NM_001146036.2,NM_015865.6;SLC14A1,missense_variant,p.Trp214Arg,ENST00000586142,;SLC14A1,missense_variant,p.Trp106Arg,ENST00000502059,;SLC14A1,missense_variant,p.Trp270Arg,ENST00000436407,NM_001146037.1;SLC14A1,missense_variant,p.Trp270Arg,ENST00000415427,;SLC14A1,missense_variant,p.Trp109Arg,ENST00000402943,;SLC14A1,missense_variant,p.Trp82Arg,ENST00000535474,;SLC14A1,missense_variant,p.Trp214Arg,ENST00000589700,;SLC14A1,missense_variant,p.Trp122Arg,ENST00000590377,;SLC14A1,missense_variant,p.Trp82Arg,ENST00000589322,;SLC14A1,missense_variant,p.Trp109Arg,ENST00000590246,;SLC14A1,downstream_gene_variant,,ENST00000587601,;SLC14A1,upstream_gene_variant,,ENST00000591541,;SLC14A1,downstream_gene_variant,,ENST00000586056,;RP11-116O18.3,intron_variant,,ENST00000586213,;RP11-116O18.3,intron_variant,,ENST00000589510,;SLC14A1,intron_variant,,ENST00000591943,;SLC14A1,non_coding_transcript_exon_variant,,ENST00000586854,;SLC14A1,non_coding_transcript_exon_variant,,ENST00000591642,;SLC14A1,intron_variant,,ENST00000588179,;							MODERATE	640/1170	W214R	UT1_HUMAN			Transcript		benign(0.396)	.	ENSP00000318546		CCDS11925.1			1	
UTRN	0	LGGM	GRCh37	6	144779993	144779993	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	30	9	.	.	ENST00000367545.3:c.2372A>T	p.Glu791Val	p.E791V	ENST00000367545	NM_007124.2	791	gAa/gTa	0	1	1	UPI00003673F1	0	NA	ENST00000367545		ENSG00000152818	12635		39	0.345		HGNC	p.E791V		UTRN		SNV							ENST00000367545	protein_coding	getma.org/?cm=var&var=hg19,6,144779993,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		E/V		T	neutral	2372/12339		getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=727&re=926&var=E791V	tolerated(0.33)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,missense_variant,p.Glu791Val,ENST00000367545,NM_007124.2;							MODERATE	2372/10302	E791V	UTRO_HUMAN			Transcript		benign(0.01)	.	ENSP00000356515		CCDS34547.1			1	
ACTR3	0	LGGM	GRCh37	2	114674556	114674556	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	12	9	.	.	ENST00000263238.2:c.196G>A	p.Ala66Thr	p.A66T	ENST00000263238	NM_005721.4	66	Gca/Aca	0	1	1	UPI000000DA9A	0	getma.org/pdb.php?prot=ARP3_HUMAN&from=2&to=412&var=A66T	ENST00000263238		ENSG00000115091	170		21	3.54		HGNC	p.A15T		ACTR3		SNV							ENST00000535589	protein_coding	getma.org/?cm=var&var=hg19,2,114674556,G,A&fts=all		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF175,Pfam_domain:PF00022,Gene3D:2.30.36.70,SMART_domains:SM00268,Superfamily_domains:SSF53067		A/T		A	high	516/6718		getma.org/?cm=msa&ty=f&p=ARP3_HUMAN&rb=2&re=412&var=A66T	deleterious(0)	B4DXW1_HUMAN,B4DTI0_HUMAN			YES	ACTR3,missense_variant,p.Ala66Thr,ENST00000263238,NM_005721.4;ACTR3,missense_variant,p.Ala15Thr,ENST00000535589,NM_001277140.1;ACTR3,intron_variant,,ENST00000536059,;ACTR3,3_prime_UTR_variant,,ENST00000443297,;ACTR3,intron_variant,,ENST00000446821,;ACTR3,intron_variant,,ENST00000415792,;							MODERATE	196/1257	A66T	ARP3_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000263238		CCDS33277.1			1	
FOSL2	0	LGGM	GRCh37	2	28634991	28634991	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	9	.	.	ENST00000264716.4:c.657A>G	p.Val219=	p.V219=	ENST00000264716	NM_005253.3	219	gtA/gtG	0	1	1	UPI000004F8AB	0		ENST00000264716		ENSG00000075426	3798		22			HGNC	p.V219V		FOSL2		SNV							ENST00000264716	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23351:SF25,hmmpanther:PTHR23351		V		G		1520/6708				C9JCN8_HUMAN			YES	FOSL2,synonymous_variant,p.=,ENST00000264716,NM_005253.3;FOSL2,synonymous_variant,p.=,ENST00000379619,;FOSL2,synonymous_variant,p.=,ENST00000545753,;FOSL2,synonymous_variant,p.=,ENST00000436647,;FOSL2,downstream_gene_variant,,ENST00000460736,;							LOW	657/981		FOSL2_HUMAN			Transcript			.	ENSP00000264716		CCDS1766.1			1	
RTCA	0	LGGM	GRCh37	1	100742869	100742869	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	25	9	.	.	ENST00000260563.4:c.835C>T	p.Arg279Ter	p.R279*	ENST00000260563	NM_001130841.1	279	Cga/Tga	0	1		UPI00001352BF	0	NA	ENST00000370128		ENSG00000137996	17981	8.65E-05	34	0		HGNC	p.R279X	rs754106643	RTCA	6.63E-05	SNV							ENST00000260563	protein_coding	getma.org/?cm=var&var=hg19,1,100742869,C,T&fts=all		Superfamily_domains:0048986,Gene3D:3kgdA02,Pfam_domain:PF01137,Pfam_domain:PF05189,hmmpanther:PTHR11096,hmmpanther:PTHR11096:SF0,TIGRFAM_domain:TIGR03399		R/*		T	NA	965/2535	3.02E-05	NA		B4DSL0_HUMAN,A6NIC1_HUMAN				RTCA,stop_gained,p.Arg266Ter,ENST00000370128,NM_003729.3;RTCA,stop_gained,p.Arg279Ter,ENST00000260563,NM_001130841.1;MIR553,upstream_gene_variant,,ENST00000385017,;RTCA,downstream_gene_variant,,ENST00000498617,;RTCA,downstream_gene_variant,,ENST00000483474,;							HIGH	796/1101	R266*	RTCA_HUMAN			Transcript			.	ENSP00000359146	3.29E-05	CCDS768.1			1	
MGAT4C	0	LGGM	GRCh37	12	86373431	86373431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	26	10	.	.	ENST00000604798.1:c.1073G>T	p.Ser358Ile	p.S358I	ENST00000604798		358	aGc/aTc	0	1		UPI00001B002C	0	NA	ENST00000548651		ENSG00000182050	30871		36	1.175		HGNC	p.S358I		MGAT4C		SNV							ENST00000547225	protein_coding	getma.org/?cm=var&var=hg19,12,86373431,C,A&fts=all		hmmpanther:PTHR12062:SF8,hmmpanther:PTHR12062		S/I		A	low	1129/1523		getma.org/?cm=msa&ty=f&p=MGT4C_HUMAN&rb=331&re=478&var=S358I	tolerated(0.19)	F8VWY2_HUMAN				MGAT4C,missense_variant,p.Ser358Ile,ENST00000604798,;MGAT4C,missense_variant,p.Ser358Ile,ENST00000332156,;MGAT4C,missense_variant,p.Ser358Ile,ENST00000549405,;MGAT4C,missense_variant,p.Ser387Ile,ENST00000393205,;MGAT4C,missense_variant,p.Ser358Ile,ENST00000552808,;MGAT4C,missense_variant,p.Ser358Ile,ENST00000548651,NM_013244.3;MGAT4C,missense_variant,p.Ser358Ile,ENST00000547225,;MGAT4C,downstream_gene_variant,,ENST00000552435,;							MODERATE	1073/1437	S358I	MGT4C_HUMAN			Transcript		benign(0.001)	.	ENSP00000447253		CCDS9030.1			1	
KRT33B	0	LGGM	GRCh37	17	39521650	39521650	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	15	10	.	.	ENST00000251646.3:c.744C>A	p.Ala248=	p.A248=	ENST00000251646	NM_002279.4	248	gcC/gcA	0	1	1	UPI000012DAFE	0		ENST00000251646		ENSG00000131738	6451		25			HGNC	p.A248A		KRT33B		SNV							ENST00000251646	protein_coding			Pfam_domain:PF00038,hmmpanther:PTHR23239:SF99,hmmpanther:PTHR23239		A		T		794/1607							YES	KRT33B,synonymous_variant,p.=,ENST00000251646,NM_002279.4;							LOW	744/1215		KT33B_HUMAN			Transcript			.	ENSP00000251646		CCDS11389.1			1	
NME6	0	LGGM	GRCh37	3	48336159	48336159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	10	.	.	ENST00000421967.1:c.553G>A	p.Val185Ile	p.V185I	ENST00000421967	NM_005793.3	185	Gta/Ata	0	1		UPI000012FE8A	0	NA	ENST00000415053		ENSG00000172113	20567		23	0.55		HGNC	p.V132I		NME6		SNV							ENST00000447314	protein_coding	getma.org/?cm=var&var=hg19,3,48336159,C,T&fts=all		hmmpanther:PTHR11349		V/I		T	neutral	691/913		getma.org/?cm=msa&ty=f&p=NDK6_HUMAN&rb=150&re=186&var=V177I	tolerated(0.71)	C9JQB1_HUMAN,C9J9V6_HUMAN,C9J1J2_HUMAN				NME6,missense_variant,p.Val185Ile,ENST00000421967,NM_005793.3;NME6,missense_variant,p.Val177Ile,ENST00000452211,;NME6,missense_variant,p.Val177Ile,ENST00000426689,;NME6,missense_variant,p.Met163Ile,ENST00000450160,;NME6,missense_variant,p.Val110Ile,ENST00000426723,;NME6,missense_variant,p.Val177Ile,ENST00000415053,;NME6,missense_variant,p.Met163Ile,ENST00000451657,;NME6,missense_variant,p.Val110Ile,ENST00000415644,;NME6,missense_variant,p.Val177Ile,ENST00000442597,;NME6,missense_variant,p.Val132Ile,ENST00000447314,;NME6,missense_variant,p.Met163Ile,ENST00000435684,;ZNF589,intron_variant,,ENST00000412564,;NME6,downstream_gene_variant,,ENST00000447724,;NME6,downstream_gene_variant,,ENST00000456495,;NME6,downstream_gene_variant,,ENST00000425930,;NME6,non_coding_transcript_exon_variant,,ENST00000444069,;NME6,3_prime_UTR_variant,,ENST00000418431,;NME6,downstream_gene_variant,,ENST00000494209,;NME6,downstream_gene_variant,,ENST00000484959,;NME6,downstream_gene_variant,,ENST00000454531,;NME6,downstream_gene_variant,,ENST00000302378,;NME6,downstream_gene_variant,,ENST00000495734,;FCF1P2,upstream_gene_variant,,ENST00000415284,;							MODERATE	529/561	V177I	NDK6_HUMAN			Transcript		benign(0.004)	.	ENSP00000399582					1	
GRM8	0	LGGM	GRCh37	7	126173277	126173277	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	7	10	.	.	ENST00000339582.2:c.2159A>T	p.His720Leu	p.H720L	ENST00000339582		720	cAc/cTc	0	1	1	UPI000012F085	0	NA	ENST00000339582		ENSG00000179603	4600		17	1.735		HGNC	p.H720L		GRM8		SNV							ENST00000339582	protein_coding	getma.org/?cm=var&var=hg19,7,126173277,T,A&fts=all		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26		H/L		A	low	2968/4057		getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=593&re=841&var=H720L	deleterious(0.01)	E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,missense_variant,p.His720Leu,ENST00000339582,;GRM8,missense_variant,p.His720Leu,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.His720Leu,ENST00000444921,NM_000845.2;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,missense_variant,p.His720Leu,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;							MODERATE	2159/2727	H720L	GRM8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000344173		CCDS5794.1			1	
KCNH6	0	LGGM	GRCh37	17	61622999	61622999	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	10	.	.	ENST00000583023.1:c.2721T>A	p.Cys907Ter	p.C907*	ENST00000583023	NM_030779.3	907	tgT/tgA	0	1	1	UPI000012DCAB	0	NA	ENST00000583023		ENSG00000173826	18862		31	0		HGNC	p.C907X		KCNH6		SNV							ENST00000583023	protein_coding	getma.org/?cm=var&var=hg19,17,61622999,T,A&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473		C/*		A	NA	2732/3821		NA					YES	KCNH6,stop_gained,p.Cys907Ter,ENST00000583023,NM_030779.3;KCNH6,stop_gained,p.Cys818Ter,ENST00000456941,NM_001278920.1;KCNH6,stop_gained,p.Cys871Ter,ENST00000314672,NM_001278919.1;KCNH6,stop_gained,p.Cys818Ter,ENST00000581784,NM_173092.2;DCAF7,upstream_gene_variant,,ENST00000310827,NM_005828.4;DCAF7,upstream_gene_variant,,ENST00000415273,;DCAF7,upstream_gene_variant,,ENST00000431926,;DCAF7,upstream_gene_variant,,ENST00000577702,;DCAF7,upstream_gene_variant,,ENST00000582103,;DCAF7,upstream_gene_variant,,ENST00000585252,;DCAF7,upstream_gene_variant,,ENST00000582274,;KCNH6,3_prime_UTR_variant,,ENST00000583465,;							HIGH	2721/2985	C907*	KCNH6_HUMAN			Transcript			.	ENSP00000463533		CCDS11638.1			1	
PTPLA	0	LGGM	GRCh37	10	17641301	17641301	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	11	.	.	ENST00000361271.3:c.593T>A	p.Ile198Asn	p.I198N	ENST00000361271	NM_014241.3	198	aTt/aAt	0	1	1	UPI000036666A	0	NA	ENST00000361271		ENSG00000165996	9639		28	2.73		HGNC	p.I198N		PTPLA		SNV			1				ENST00000361271	protein_coding	getma.org/?cm=var&var=hg19,10,17641301,A,T&fts=all		Pfam_domain:PF04387,hmmpanther:PTHR11035,hmmpanther:PTHR11035:SF22		I/N		T	medium	631/1310		getma.org/?cm=msa&ty=f&p=HACD1_HUMAN&rb=119&re=282&var=I198N	deleterious(0)	J3KT94_HUMAN			YES	PTPLA,missense_variant,p.Ile198Asn,ENST00000361271,NM_014241.3;PTPLA,missense_variant,p.Ile164Asn,ENST00000466335,;PTPLA,non_coding_transcript_exon_variant,,ENST00000471481,;PTPLA,intron_variant,,ENST00000498812,;							MODERATE	593/867	I198N	HACD1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000355308		CCDS7121.1			1	
HECTD1	0	LGGM	GRCh37	14	31576216	31576216	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	20	11	.	.	ENST00000399332.1:c.6862T>C	p.Tyr2288His	p.Y2288H	ENST00000399332	NM_015382.2	2288	Tat/Cat	0	1	1	UPI0000E8AC98	0	NA	ENST00000399332		ENSG00000092148	20157		31	0.55		HGNC	p.Y2288H		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31576216,A,G&fts=all		SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50237		Y/H		G	neutral	7351/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=2179&re=2610&var=Y2288H	tolerated(0.49)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Tyr2288His,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Tyr2288His,ENST00000553700,;HECTD1,missense_variant,p.Tyr654His,ENST00000554882,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;HECTD1,upstream_gene_variant,,ENST00000557695,;HECTD1,downstream_gene_variant,,ENST00000555311,;RPL21P5,downstream_gene_variant,,ENST00000554662,;							MODERATE	6862/7833	Y2288H	HECD1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000382269		CCDS41939.1			1	
KRTAP10-7	0	LGGM	GRCh37	21	46020536	46020536	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	35	11	.	.	ENST00000380102.2:c.15T>A	p.Thr5=	p.T5=	ENST00000380102	NM_198689.2	5	acT/acA	0	1	1	UPI000036709B	0		ENST00000380102		ENSG00000205441	22970		46			HGNC	p.T5T		KRTAP10-7		SNV							ENST00000380102	protein_coding			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF40		T		A		40/1595							YES	KRTAP10-7,synonymous_variant,p.=,ENST00000380102,NM_198689.2;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;AL773602.1,non_coding_transcript_exon_variant,,ENST00000339001,;							LOW	15/1128		KR107_HUMAN			Transcript			.	ENSP00000369445					1	
NOX4	0	LGGM	GRCh37	11	89133507	89133507	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	39	11	.	.	ENST00000263317.4:c.887C>A	p.Ala296Asp	p.A296D	ENST00000263317		296	gCc/gAc	0	1	1	UPI000045655B	0	NA	ENST00000263317		ENSG00000086991	7891		50	2.215		HGNC	p.A272D		NOX4		SNV							ENST00000535633	protein_coding	getma.org/?cm=var&var=hg19,11,89133507,G,T&fts=all		hmmpanther:PTHR11972		A/D		T	medium	1126/2388		getma.org/?cm=msa&ty=f&p=NOX4_HUMAN&rb=58&re=303&var=A296D	deleterious(0.01)	E7EMD7_HUMAN			YES	NOX4,missense_variant,p.Ala272Asp,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,missense_variant,p.Ala272Asp,ENST00000424319,;NOX4,missense_variant,p.Ala272Asp,ENST00000343727,;NOX4,missense_variant,p.Ala272Asp,ENST00000542487,NM_001143837.1;NOX4,missense_variant,p.Ala296Asp,ENST00000263317,;NOX4,missense_variant,p.Ala272Asp,ENST00000527956,;NOX4,missense_variant,p.Ala296Asp,ENST00000534731,;NOX4,missense_variant,p.Ala272Asp,ENST00000532825,;NOX4,missense_variant,p.Ala271Asp,ENST00000528341,;NOX4,missense_variant,p.Ala317Asp,ENST00000413594,;NOX4,missense_variant,p.Ala130Asp,ENST00000527626,;NOX4,intron_variant,,ENST00000525196,;NOX4,intron_variant,,ENST00000375979,;NOX4,intron_variant,,ENST00000531342,;NOX4,intron_variant,,ENST00000529343,;							MODERATE	887/1737	A296D	NOX4_HUMAN			Transcript		possibly_damaging(0.616)	.	ENSP00000263317		CCDS8285.1			1	
GPR75-ASB3	0	LGGM	GRCh37	2	53897698	53897698	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	11	11	.	.	ENST00000352846.3:c.1613A>T	p.Tyr538Phe	p.Y538F	ENST00000352846	NM_001164165.1	538	tAt/tTt	0	1		UPI00001260E7	0	NA	ENST00000263634		ENSG00000115239	40043		22	1.385		HGNC	p.Y535F		GPR75-ASB3		SNV							ENST00000406625	protein_coding	getma.org/?cm=var&var=hg19,2,53897698,T,A&fts=all		Pfam_domain:PF07525,PROSITE_profiles:PS50225,SMART_domains:SM00969,Superfamily_domains:SSF158235		Y/F		A	low	1634/2214		getma.org/?cm=msa&ty=f&p=ASB3_HUMAN&rb=459&re=501&var=Y500F	tolerated(0.36)					GPR75-ASB3,missense_variant,p.Tyr500Phe,ENST00000263634,NM_016115.4;GPR75-ASB3,missense_variant,p.Tyr427Phe,ENST00000406687,NM_001201965.1;ASB3,missense_variant,p.Tyr535Phe,ENST00000406625,;GPR75-ASB3,missense_variant,p.Tyr538Phe,ENST00000352846,NM_001164165.1;GPR75-ASB3,missense_variant,p.Tyr427Phe,ENST00000394717,NM_145863.2;GPR75-ASB3,intron_variant,,ENST00000406053,;GPR75-ASB3,non_coding_transcript_exon_variant,,ENST00000482829,;GPR75-ASB3,downstream_gene_variant,,ENST00000470707,;							MODERATE	1499/1557	Y500F	ASB3_HUMAN			Transcript		possibly_damaging(0.657)	.	ENSP00000263634		CCDS1846.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67319234	67319234	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	11	.	.	ENST00000360461.5:c.2237A>T	p.Glu746Val	p.E746V	ENST00000360461	NM_001129727.1	746	gAg/gTg	0	1	1	UPI000013C774	0	getma.org/pdb.php?prot=PKHG4_HUMAN&from=736&to=907&var=E746V	ENST00000360461		ENSG00000196155	24501		24	1.905		HGNC	p.E746V		PLEKHG4		SNV			1				ENST00000360461	protein_coding	getma.org/?cm=var&var=hg19,16,67319234,A,T&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF110,SMART_domains:SM00325,Superfamily_domains:SSF48065		E/V		T	medium	4772/6782		getma.org/?cm=msa&ty=f&p=PKHG4_HUMAN&rb=736&re=907&var=E746V	deleterious(0)	H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,missense_variant,p.Glu746Val,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,missense_variant,p.Glu746Val,ENST00000379344,NM_001129729.1;PLEKHG4,missense_variant,p.Glu665Val,ENST00000450733,NM_001129731.1;PLEKHG4,missense_variant,p.Glu746Val,ENST00000427155,NM_001129728.1;KCTD19,downstream_gene_variant,,ENST00000304372,NM_001100915.1;PLEKHG4,downstream_gene_variant,,ENST00000565773,;KCTD19,downstream_gene_variant,,ENST00000562841,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,upstream_gene_variant,,ENST00000569875,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,intron_variant,,ENST00000393966,;KCTD19,downstream_gene_variant,,ENST00000569333,;KCTD19,downstream_gene_variant,,ENST00000570049,;KCTD19,downstream_gene_variant,,ENST00000566392,;PLEKHG4,upstream_gene_variant,,ENST00000562289,;PLEKHG4,upstream_gene_variant,,ENST00000567136,;							MODERATE	2237/3576	E746V	PKHG4_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000353646		CCDS32466.1			1	
CAPRIN1	0	LGGM	GRCh37	11	34110967	34110967	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	16	11	.	.	ENST00000341394.4:c.1257G>A	p.Gln419=	p.Q419=	ENST00000341394	NM_005898.4	419	caG/caA	0	1	1	UPI0000251DB5	0		ENST00000341394		ENSG00000135387	6743		27			HGNC	p.Q419Q		CAPRIN1		SNV							ENST00000530820	protein_coding			hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3,Pfam_domain:PF12287		Q		A		1446/4108				G3V153_HUMAN,E9PLA9_HUMAN			YES	CAPRIN1,synonymous_variant,p.=,ENST00000341394,NM_005898.4;CAPRIN1,synonymous_variant,p.=,ENST00000389645,NM_203364.2;CAPRIN1,synonymous_variant,p.=,ENST00000530820,;CAPRIN1,synonymous_variant,p.=,ENST00000532820,;CAPRIN1,synonymous_variant,p.=,ENST00000529307,;CAPRIN1,intron_variant,,ENST00000528856,;CAPRIN1,upstream_gene_variant,,ENST00000533657,;CAPRIN1,upstream_gene_variant,,ENST00000528948,;							LOW	1257/2130		CAPR1_HUMAN			Transcript			.	ENSP00000340329		CCDS31453.1			1	
ELMSAN1	0	LGGM	GRCh37	14	74193677	74193677	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	12	12	.	.	ENST00000286523.5:c.2163-2A>T		p.X721_splice	ENST00000286523	NM_194278.3			0	1	1	UPI00001FD815	0		ENST00000286523		ENSG00000156030	19853		24			HGNC	-		ELMSAN1		SNV							ENST00000394071	protein_coding							A		-/8091				F6RU81_HUMAN,C9JYU7_HUMAN			YES	ELMSAN1,splice_acceptor_variant,,ENST00000286523,NM_194278.3;ELMSAN1,splice_acceptor_variant,,ENST00000394071,NM_001043318.1;ELMSAN1,splice_acceptor_variant,,ENST00000435371,;ELMSAN1,splice_acceptor_variant,,ENST00000423556,;ELMSAN1,splice_acceptor_variant,,ENST00000451078,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000476562,;ELMSAN1,non_coding_transcript_exon_variant,,ENST00000462716,;ELMSAN1,upstream_gene_variant,,ENST00000483269,;							HIGH	2163/3138		EMSA1_HUMAN			Transcript			.	ENSP00000286523		CCDS9819.1			1	
TTC7A	0	LGGM	GRCh37	2	47202136	47202136	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	22	12	.	.	ENST00000319190.5:c.542A>T	p.Asn181Ile	p.N181I	ENST00000319190	NM_020458.2	181	aAc/aTc	0	1	1	UPI00001BDC89	0	NA	ENST00000319190		ENSG00000068724	19750		34	1.01		HGNC	p.N147I		TTC7A		SNV			1				ENST00000409245	protein_coding	getma.org/?cm=var&var=hg19,2,47202136,A,T&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF342		N/I		T	low	910/5157		getma.org/?cm=msa&ty=f&p=TTC7A_HUMAN&rb=44&re=243&var=N181I	tolerated(0.3)	F5H4E1_HUMAN			YES	TTC7A,missense_variant,p.Asn181Ile,ENST00000319190,NM_020458.2;TTC7A,missense_variant,p.Asn181Ile,ENST00000394850,;TTC7A,missense_variant,p.Asn147Ile,ENST00000409245,;TTC7A,5_prime_UTR_variant,,ENST00000263737,;TTC7A,non_coding_transcript_exon_variant,,ENST00000461601,;TTC7A,upstream_gene_variant,,ENST00000474321,;TTC7A,missense_variant,p.Asn181Ile,ENST00000441914,;TTC7A,3_prime_UTR_variant,,ENST00000409825,;TTC7A,upstream_gene_variant,,ENST00000491786,;							MODERATE	542/2577	N181I	TTC7A_HUMAN			Transcript		benign(0.002)	.	ENSP00000316699		CCDS33193.1			1	
EVC2	0	LGGM	GRCh37	4	5624406	5624406	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	12	12	.	.	ENST00000344408.5:c.2359C>T	p.Arg787Trp	p.R787W	ENST00000344408	NM_147127.4	787	Cgg/Tgg	0	1	1	UPI00001910B5	0	NA	ENST00000344408		ENSG00000173040	19747	8.66E-05	24	1.7		HGNC	p.R707W	rs776830520	EVC2		SNV			1				ENST00000310917	protein_coding	getma.org/?cm=var&var=hg19,4,5624406,G,A&fts=all		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		R/W		A	low	2413/4390	6.01E-05	getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=662&re=861&var=R787W	deleterious(0)	Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,missense_variant,p.Arg707Trp,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Arg787Trp,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Arg787Trp,ENST00000344938,;EVC2,missense_variant,p.Arg707Trp,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;							MODERATE	2359/3927	R787W	LBN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342144	4.12E-05	CCDS3382.2			1	
NFS1	0	LGGM	GRCh37	20	34286488	34286488	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	12	12	.	.	ENST00000374092.4:c.122C>G	p.Ala41Gly	p.A41G	ENST00000374092	NM_021100.4	41	gCg/gGg	0	1	1	UPI000013D34D	0	NA	ENST00000374092		ENSG00000244005	15910		24	0		HGNC	p.A41G		NFS1		SNV			1				ENST00000421540	protein_coding	getma.org/?cm=var&var=hg19,20,34286488,G,C&fts=all				A/G		C	neutral	193/3012		getma.org/?cm=msa&ty=f&p=NFS1_HUMAN&rb=1&re=58&var=A41G	tolerated_low_confidence(0.32)	Q5QP19_HUMAN,B4DNL7_HUMAN,A2A2M1_HUMAN			YES	NFS1,missense_variant,p.Ala41Gly,ENST00000374092,NM_021100.4;NFS1,missense_variant,p.Ala41Gly,ENST00000541387,NM_001198989.1;NFS1,missense_variant,p.Ala41Gly,ENST00000306750,;NFS1,5_prime_UTR_variant,,ENST00000374085,;NFS1,5_prime_UTR_variant,,ENST00000540053,;NFS1,5_prime_UTR_variant,,ENST00000397425,;NFS1,5_prime_UTR_variant,,ENST00000419569,;ROMO1,upstream_gene_variant,,ENST00000374078,NM_080748.2;ROMO1,upstream_gene_variant,,ENST00000336695,;ROMO1,upstream_gene_variant,,ENST00000374077,;ROMO1,upstream_gene_variant,,ENST00000374072,;ROMO1,upstream_gene_variant,,ENST00000397416,;NFS1,non_coding_transcript_exon_variant,,ENST00000421540,;NFS1,missense_variant,p.Ala41Gly,ENST00000456462,;NFS1,5_prime_UTR_variant,,ENST00000440385,;NFS1,5_prime_UTR_variant,,ENST00000413203,;							MODERATE	122/1374	A41G	NFS1_HUMAN			Transcript		benign(0.002)	.	ENSP00000363205		CCDS13262.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147259271	147259271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	38	12	.	.	ENST00000361727.3:c.1819C>A	p.Gln607Lys	p.Q607K	ENST00000361727	NM_014141.5	607	Cag/Aag	0	1	1	UPI00001285FA	0	NA	ENST00000361727		ENSG00000174469	13830		50	-1.445		HGNC	p.Q607K		CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,147259271,C,A&fts=all		PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Superfamily_domains:SSF56496		Q/K		A	neutral	2335/9894		getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=592&re=798&var=Q607K	tolerated(0.38)	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			YES	CNTNAP2,missense_variant,p.Gln607Lys,ENST00000361727,NM_014141.5;							MODERATE	1819/3996	Q607K	CNTP2_HUMAN			Transcript		benign(0)	.	ENSP00000354778		CCDS5889.1			1	
MIB1	0	LGGM	GRCh37	18	19424121	19424121	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	27	12	.	.	ENST00000261537.6:c.2118T>C	p.Ala706=	p.A706=	ENST00000261537	NM_020774.3	706	gcT/gcC	0	1	1	UPI000000D833	0		ENST00000261537		ENSG00000101752	21086		39			HGNC	p.A706A		MIB1		SNV			1				ENST00000261537	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		A		C		2382/9576				B3KRA8_HUMAN			YES	MIB1,synonymous_variant,p.=,ENST00000261537,NM_020774.3;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;							LOW	2118/3021		MIB1_HUMAN			Transcript			.	ENSP00000261537		CCDS11871.1			1	
FOXD4	0	LGGM	GRCh37	9	117908	117908	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	19	12	.	.	ENST00000382500.2:c.212A>T	p.Glu71Val	p.E71V	ENST00000382500	NM_207305.4	71	gAg/gTg	0	1	1	UPI00001AFF18	0	NA	ENST00000382500		ENSG00000170122	3805		31	0.805		HGNC	p.E71V		FOXD4		SNV							ENST00000382500	protein_coding	getma.org/?cm=var&var=hg19,9,117908,T,A&fts=all		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF149		E/V		A	low	510/2181		getma.org/?cm=msa&ty=f&p=FOXD4_HUMAN&rb=1&re=103&var=E71V	deleterious(0.04)				YES	FOXD4,missense_variant,p.Glu71Val,ENST00000382500,NM_207305.4;CBWD1,downstream_gene_variant,,ENST00000356521,NM_018491.3;CBWD1,downstream_gene_variant,,ENST00000377400,;CBWD1,downstream_gene_variant,,ENST00000314367,NM_001145355.1;CBWD1,downstream_gene_variant,,ENST00000382447,NM_001145356.1;RP11-143M1.4,upstream_gene_variant,,ENST00000416242,;CBWD1,downstream_gene_variant,,ENST00000475411,;CBWD1,downstream_gene_variant,,ENST00000495302,;CBWD1,downstream_gene_variant,,ENST00000475990,;CBWD1,downstream_gene_variant,,ENST00000465014,;CBWD1,downstream_gene_variant,,ENST00000487575,;CBWD1,downstream_gene_variant,,ENST00000464198,;CBWD1,downstream_gene_variant,,ENST00000462513,;							MODERATE	212/1320	E71V	FOXD4_HUMAN			Transcript		benign(0.299)	.	ENSP00000371940		CCDS34975.1			1	
LZTS1	0	LGGM	GRCh37	8	20112575	20112575	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	5	12	.	.	ENST00000381569.1:c.118G>A	p.Gly40Arg	p.G40R	ENST00000381569		40	Ggg/Agg	0	1		UPI000006DEE8	0	NA	ENST00000265801		ENSG00000061337	13861		17	1.385		HGNC	p.G40R		LZTS1		SNV			1				ENST00000265801	protein_coding	getma.org/?cm=var&var=hg19,8,20112575,C,T&fts=all		hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354		G/R		T	low	229/5459		getma.org/?cm=msa&ty=f&p=LZTS1_HUMAN&rb=1&re=200&var=G40R	deleterious(0)					LZTS1,missense_variant,p.Gly40Arg,ENST00000381569,;LZTS1,missense_variant,p.Gly40Arg,ENST00000265801,NM_021020.2;LZTS1,missense_variant,p.Gly40Arg,ENST00000522290,;							MODERATE	118/1791	G40R	LZTS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265801		CCDS6015.1			1	
BMP1	0	LGGM	GRCh37	8	22054322	22054322	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	3	12	.	.	ENST00000306385.5:c.1895A>T	p.Gln632Leu	p.Q632L	ENST00000306385	NM_006129.4	632	cAg/cTg	0	1	1	UPI0000049818	0	getma.org/pdb.php?prot=BMP1_HUMAN&from=591&to=700&var=Q632L	ENST00000306385		ENSG00000168487	1067		15	0.75		HGNC	p.Q632L		BMP1		SNV			1				ENST00000397816	protein_coding	getma.org/?cm=var&var=hg19,8,22054322,A,T&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF305,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854		Q/L		T	neutral	2565/4229		getma.org/?cm=msa&ty=f&p=BMP1_HUMAN&rb=591&re=700&var=Q632L	tolerated(0.12)				YES	BMP1,missense_variant,p.Gln632Leu,ENST00000306385,NM_006129.4;BMP1,missense_variant,p.Gln632Leu,ENST00000397816,;BMP1,missense_variant,p.Gln632Leu,ENST00000306349,NM_001199.3;BMP1,3_prime_UTR_variant,,ENST00000354870,;BMP1,downstream_gene_variant,,ENST00000397814,;BMP1,downstream_gene_variant,,ENST00000523749,;BMP1,missense_variant,p.Gln632Leu,ENST00000520970,;BMP1,missense_variant,p.Gln632Leu,ENST00000521385,;BMP1,3_prime_UTR_variant,,ENST00000520626,;BMP1,3_prime_UTR_variant,,ENST00000520982,;BMP1,3_prime_UTR_variant,,ENST00000471755,;BMP1,3_prime_UTR_variant,,ENST00000518913,;BMP1,3_prime_UTR_variant,,ENST00000483364,;BMP1,upstream_gene_variant,,ENST00000522332,;BMP1,downstream_gene_variant,,ENST00000517324,;BMP1,downstream_gene_variant,,ENST00000523457,;							MODERATE	1895/2961	Q632L	BMP1_HUMAN			Transcript		benign(0.024)	.	ENSP00000305714		CCDS6026.1			1	
TREML4	0	LGGM	GRCh37	6	41204236	41204236	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	51	12	.	.	ENST00000341495.2:c.519C>G	p.Ala173=	p.A173=	ENST00000341495	NM_198153.2	173	gcC/gcG	0	1	1	UPI00001D696F	0		ENST00000341495		ENSG00000188056	30807		63			HGNC	p.A173A		TREML4		SNV							ENST00000448827	protein_coding			hmmpanther:PTHR16423:SF1,hmmpanther:PTHR16423		A		G		623/2070							YES	TREML4,synonymous_variant,p.=,ENST00000341495,NM_198153.2;TREML4,synonymous_variant,p.=,ENST00000448827,;RNA5SP207,downstream_gene_variant,,ENST00000390874,;TREML4,3_prime_UTR_variant,,ENST00000461240,;							LOW	519/603		TRML4_HUMAN			Transcript			.	ENSP00000342570		CCDS34446.1			1	
LRP4	0	LGGM	GRCh37	11	46897479	46897479	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	13	.	.	ENST00000378623.1:c.3575T>A	p.Leu1192Ter	p.L1192*	ENST00000378623	NM_002334.3	1192	tTa/tAa	0	1	1	UPI0000D625E9	0	NA	ENST00000378623		ENSG00000134569	6696		30	0		HGNC	p.L1192X		LRP4		SNV			1				ENST00000378623	protein_coding	getma.org/?cm=var&var=hg19,11,46897479,A,T&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825		L/*		T	NA	3818/8076		NA					YES	LRP4,stop_gained,p.Leu1192Ter,ENST00000378623,NM_002334.3;LRP4-AS1,downstream_gene_variant,,ENST00000502049,;LRP4-AS1,downstream_gene_variant,,ENST00000531719,;LRP4,upstream_gene_variant,,ENST00000527656,;							HIGH	3575/5718	L1192*	LRP4_HUMAN			Transcript			.	ENSP00000367888		CCDS31478.1			1	
GPR157	0	LGGM	GRCh37	1	9171518	9171518	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	13	.	.	ENST00000377411.4:c.414A>T	p.Ala138=	p.A138=	ENST00000377411	NM_024980.4	138	gcA/gcT	0	1	1	UPI0000044DD4	0		ENST00000377411		ENSG00000180758	23687		26			HGNC	p.A138A	COSM2153961	GPR157		SNV						1	ENST00000414642	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00002,PROSITE_profiles:PS50261,PROSITE_profiles:PS50262,hmmpanther:PTHR23112,hmmpanther:PTHR23112:SF12,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		A		557/5265							YES	GPR157,synonymous_variant,p.=,ENST00000377411,NM_024980.4;GPR157,synonymous_variant,p.=,ENST00000414642,;GPR157,upstream_gene_variant,,ENST00000465853,;GPR157,non_coding_transcript_exon_variant,,ENST00000466131,;					1		LOW	414/1008		GP157_HUMAN			Transcript			.	ENSP00000366628		CCDS100.2			1	
CBLB	0	LGGM	GRCh37	3	105397336	105397336	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	24	13	.	.	ENST00000264122.4:c.2508A>T	p.Ser836=	p.S836=	ENST00000264122	NM_170662.3	836	tcA/tcT	0	1	1	UPI00001AE89F	0		ENST00000264122		ENSG00000114423	1542		37			HGNC	p.S814S		CBLB		SNV							ENST00000394027	protein_coding			hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3,Low_complexity_(Seg):seg		S		A		2830/6780				C9JU85_HUMAN,B5MC15_HUMAN			YES	CBLB,synonymous_variant,p.=,ENST00000264122,NM_170662.3;CBLB,synonymous_variant,p.=,ENST00000394030,;CBLB,synonymous_variant,p.=,ENST00000394027,;CBLB,synonymous_variant,p.=,ENST00000407712,;CBLB,downstream_gene_variant,,ENST00000403724,;CBLB,downstream_gene_variant,,ENST00000405772,;CBLB,upstream_gene_variant,,ENST00000476370,;							LOW	2508/2949		CBLB_HUMAN			Transcript			.	ENSP00000264122		CCDS2948.1			1	
EOMES	0	LGGM	GRCh37	3	27758856	27758856	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	13	.	.	ENST00000295743.4:c.1766T>A	p.Leu589Gln	p.L589Q	ENST00000295743	NM_005442.3	589	cTa/cAa	0	1	1	UPI000013E29D	0	NA	ENST00000295743		ENSG00000163508	3372		30	2.195		HGNC	p.L608Q		EOMES		SNV			1				ENST00000449599	protein_coding	getma.org/?cm=var&var=hg19,3,27758856,A,T&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF13		L/Q		T	medium	1970/3386		getma.org/?cm=msa&ty=f&p=EOMES_HUMAN&rb=458&re=657&var=L589Q	tolerated(0.12)				YES	EOMES,missense_variant,p.Leu589Gln,ENST00000295743,NM_005442.3,NM_001278182.1;EOMES,missense_variant,p.Leu608Gln,ENST00000449599,;EOMES,missense_variant,p.Leu313Gln,ENST00000537516,NM_001278183.1;RP11-222K16.2,downstream_gene_variant,,ENST00000606069,;EOMES,downstream_gene_variant,,ENST00000461503,;							MODERATE	1766/2061	L589Q	EOMES_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000295743		CCDS2646.1			1	
FAM135A	0	LGGM	GRCh37	6	71200757	71200757	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	13	.	.	ENST00000418814.2:c.844C>G	p.Arg282Gly	p.R282G	ENST00000418814	NM_001162529.1	282	Cga/Gga	0	1		UPI0000D61481	0	NA	ENST00000370479		ENSG00000082269	21084		26	2.395		HGNC	p.R265G		FAM135A		SNV							ENST00000457062	protein_coding	getma.org/?cm=var&var=hg19,6,71200757,C,G&fts=all		hmmpanther:PTHR12482:SF12,hmmpanther:PTHR12482		R/G		G	medium	1311/5676		getma.org/?cm=msa&ty=f&p=F135A_HUMAN&rb=174&re=311&var=R282G	deleterious(0.01)					FAM135A,missense_variant,p.Arg282Gly,ENST00000418814,NM_001162529.1,NM_001105531.2;FAM135A,missense_variant,p.Arg265Gly,ENST00000370479,;FAM135A,missense_variant,p.Arg265Gly,ENST00000457062,NM_020819.4;FAM135A,missense_variant,p.Arg282Gly,ENST00000505868,;FAM135A,missense_variant,p.Arg282Gly,ENST00000361499,;FAM135A,missense_variant,p.Arg282Gly,ENST00000505769,;FAM135A,missense_variant,p.Arg282Gly,ENST00000515323,;FAM135A,3_prime_UTR_variant,,ENST00000194672,;FAM135A,non_coding_transcript_exon_variant,,ENST00000425415,;FAM135A,non_coding_transcript_exon_variant,,ENST00000393299,;							MODERATE	793/3909	R282G	F135A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359510		CCDS34481.1			1	
ASZ1	0	LGGM	GRCh37	7	117023098	117023098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	13	.	.	ENST00000284629.2:c.754G>A	p.Asp252Asn	p.D252N	ENST00000284629	NM_130768.2	252	Gac/Aac	0	1	1	UPI0000070EE2	0	NA	ENST00000284629		ENSG00000154438	1350		50	0.345		HGNC	p.D252N		ASZ1		SNV							ENST00000284629	protein_coding	getma.org/?cm=var&var=hg19,7,117023098,C,T&fts=all		hmmpanther:PTHR24157,Superfamily_domains:0051779		D/N		T	neutral	817/1865		getma.org/?cm=msa&ty=f&p=ASZ1_HUMAN&rb=213&re=270&var=D252N	deleterious(0.04)	C9JP59_HUMAN,B7ZM20_HUMAN			YES	ASZ1,missense_variant,p.Asp252Asn,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,;							MODERATE	754/1428	D252N	ASZ1_HUMAN			Transcript		benign(0.007)	.	ENSP00000284629		CCDS5772.1			1	
ENPP2	0	LGGM	GRCh37	8	120575213	120575213	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	12	13	.	.	ENST00000259486.6:c.2461T>A	p.Tyr821Asn	p.Y821N	ENST00000259486	NM_006209.4	821	Tac/Aac	0	1		UPI000013D05C	0	getma.org/pdb.php?prot=ENPP2_HUMAN&from=614&to=845&var=Y769N	ENST00000075322		ENSG00000136960	3357		25	2.16		HGNC	p.Y404N		ENPP2		SNV							ENST00000522167	protein_coding	getma.org/?cm=var&var=hg19,8,120575213,A,T&fts=all		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Gene3D:1g8tA00,Pfam_domain:PF01223,SMART_domains:SM00892,SMART_domains:SM00477,Superfamily_domains:SSF54060		Y/N		T	medium	2364/2651		getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=614&re=845&var=Y769N	deleterious(0)					ENPP2,missense_variant,p.Tyr790Asn,ENST00000427067,;ENPP2,missense_variant,p.Tyr821Asn,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Tyr794Asn,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Tyr769Asn,ENST00000075322,NM_001040092.2;ENPP2,missense_variant,p.Tyr404Asn,ENST00000522167,;ENPP2,non_coding_transcript_exon_variant,,ENST00000523861,;							MODERATE	2305/2592	Y769N	ENPP2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000075322		CCDS34936.1			1	
CLLU1	0	LGGM	GRCh37	12	92818701	92818701	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	18	13	.	.	ENST00000378485.1:c.245A>T	p.Glu82Val	p.E82V	ENST00000378485	NM_001025233.1	82	gAg/gTg	0	1	1	UPI00004A1179	0	NA	ENST00000378485		ENSG00000257127	29841		31	0		HGNC	p.E82V		CLLU1		SNV							ENST00000378485	protein_coding	getma.org/?cm=var&var=hg19,12,92818701,A,T&fts=all				E/V		T	neutral	967/3897		getma.org/?cm=msa&ty=f&p=CLLU1_HUMAN&rb=1&re=121&var=E82V					YES	CLLU1,missense_variant,p.Glu82Val,ENST00000378485,NM_001025233.1;CLLU1OS,intron_variant,,ENST00000378487,NM_001025232.1;CLLU1OS,intron_variant,,ENST00000538965,;RP11-693J15.4,intron_variant,,ENST00000508671,;CLLU1,intron_variant,,ENST00000472839,;CLLU1,intron_variant,,ENST00000512817,;CLLU1,non_coding_transcript_exon_variant,,ENST00000586526,;CLLU1,downstream_gene_variant,,ENST00000589406,;							MODERATE	245/366	E82V	CLLU1_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000367746					1	
DNAH3	0	LGGM	GRCh37	16	21011749	21011749	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	22	13	.	.	ENST00000261383.3:c.6218T>A	p.Val2073Glu	p.V2073E	ENST00000261383	NM_017539.1	2073	gTg/gAg	0	1	1	UPI00001100F2	0	getma.org/pdb.php?prot=DYH3_HUMAN&from=2037&to=2306&var=V2073E	ENST00000261383		ENSG00000158486	2949		35	3.89		HGNC	p.V2073E		DNAH3		SNV							ENST00000261383	protein_coding	getma.org/?cm=var&var=hg19,16,21011749,A,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242,SMART_domains:SM00382,Superfamily_domains:SSF52540		V/E		T	high	6218/12394		getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=2037&re=2306&var=V2073E	deleterious(0)				YES	DNAH3,missense_variant,p.Val2073Glu,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;							MODERATE	6218/12351	V2073E	DYH3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261383		CCDS10594.1			1	
FPGT-TNNI3K	0	LGGM	GRCh37	1	74834756	74834756	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	23	13	.	.	ENST00000370891.2:c.1675C>A	p.Leu559Ile	p.L559I	ENST00000370891	NM_001112808.2	559	Ctt/Att	0	1	1	UPI0001EECC26	0	NA	ENST00000557284		ENSG00000259030	42952		36	0.205		HGNC	p.L559I		FPGT-TNNI3K		SNV							ENST00000557284	protein_coding	getma.org/?cm=var&var=hg19,1,74834756,C,A&fts=all		Superfamily_domains:SSF56112,Gene3D:3.30.200.20,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257		L/I		A	neutral	1719/2855		getma.org/?cm=msa&ty=f&p=TNI3K_HUMAN&rb=411&re=462&var=L458I	tolerated(0.42)	A6NHC7_HUMAN			YES	FPGT-TNNI3K,missense_variant,p.Leu559Ile,ENST00000370895,;TNNI3K,missense_variant,p.Leu559Ile,ENST00000370891,NM_001112808.2;TNNI3K,missense_variant,p.Leu458Ile,ENST00000326637,NM_015978.2;FPGT-TNNI3K,missense_variant,p.Leu572Ile,ENST00000557284,;FPGT-TNNI3K,missense_variant,p.Leu559Ile,ENST00000370899,NM_001199327.1;TNNI3K,missense_variant,p.Leu5Ile,ENST00000526236,;TNNI3K,upstream_gene_variant,,ENST00000534020,;FPGT-TNNI3K,downstream_gene_variant,,ENST00000534632,;TNNI3K,upstream_gene_variant,,ENST00000525480,;RP11-439H8.4,non_coding_transcript_exon_variant,,ENST00000415549,;TNNI3K,non_coding_transcript_exon_variant,,ENST00000497284,;							MODERATE	1714/2850	L458I				Transcript		probably_damaging(0.998)	.	ENSP00000450895		CCDS44161.2			1	
ZNF835	0	LGGM	GRCh37	19	57174962	57174962	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	20	13	.	.	ENST00000537055.2:c.1605A>T	p.Ala535=	p.A535=	ENST00000537055	NM_001005850.2	535	gcA/gcT	0	1	1	UPI0000EE7244	0		ENST00000537055		ENSG00000127903	34332		33			HGNC	p.A535A		ZNF835		SNV							ENST00000537055	protein_coding					A		A		1837/2779				M0QYX0_HUMAN			YES	ZNF835,synonymous_variant,p.=,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,;							LOW	1605/1614		ZN835_HUMAN			Transcript			.	ENSP00000444747		CCDS56105.1			1	
DNTT	0	LGGM	GRCh37	10	98064298	98064298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	6	14	.	.	ENST00000371174.2:c.44G>T	p.Arg15Ile	p.R15I	ENST00000371174		15	aGa/aTa	0	1	1	UPI000013C84B	0	NA	ENST00000371174		ENSG00000107447	2983		20	2.52		HGNC	p.R15I		DNTT		SNV							ENST00000371174	protein_coding	getma.org/?cm=var&var=hg19,10,98064298,G,T&fts=all		hmmpanther:PTHR11276:SF21,hmmpanther:PTHR11276,PIRSF_domain:PIRSF501175,PIRSF_domain:PIRSF000817		R/I		T	medium	146/1972		getma.org/?cm=msa&ty=f&p=TDT_HUMAN&rb=1&re=56&var=R15I	deleterious(0.02)				YES	DNTT,missense_variant,p.Arg15Ile,ENST00000419175,NM_004088.3,NM_001017520.1;DNTT,missense_variant,p.Arg15Ile,ENST00000371174,;RP11-35J23.1,intron_variant,,ENST00000454484,;							MODERATE	44/1530	R15I	TDT_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000360216		CCDS7447.1			1	
PRODH2	0	LGGM	GRCh37	19	36302899	36302899	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	20	14	.	.	ENST00000301175.3:c.790C>T	p.Pro264Ser	p.P264S	ENST00000301175	NM_021232.1	264	Ccc/Tcc	0	1	1	UPI000006EE59	0	NA	ENST00000301175		ENSG00000250799	17325		34	1.95		HGNC	p.P264S		PRODH2		SNV							ENST00000301175	protein_coding	getma.org/?cm=var&var=hg19,19,36302899,G,A&fts=all		hmmpanther:PTHR13914:SF0,hmmpanther:PTHR13914		P/S		A	medium	808/1677		getma.org/?cm=msa&ty=f&p=PROD2_HUMAN&rb=260&re=519&var=P264S	tolerated(0.55)				YES	PRODH2,missense_variant,p.Pro264Ser,ENST00000301175,NM_021232.1;PRODH2,non_coding_transcript_exon_variant,,ENST00000587695,;PRODH2,non_coding_transcript_exon_variant,,ENST00000591694,;							MODERATE	790/1611	P264S	PROD2_HUMAN			Transcript		benign(0.133)	.	ENSP00000301175		CCDS12478.1			1	
DLG3	0	LGGM	GRCh37	X	69717040	69717040	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	4	14	.	.	ENST00000374360.3:c.1820-1330A>T		*607*	ENST00000374360	NM_021120.3			0	1	1	UPI000013C60C	0		ENST00000374360		ENSG00000082458	2902		18			HGNC	p.T291T		DLG3		SNV			1				ENST00000374355	protein_coding							T		-/5905				Q59FY1_HUMAN			YES	DLG3,synonymous_variant,p.=,ENST00000194900,;DLG3,synonymous_variant,p.=,ENST00000374355,NM_020730.2;DLG3,synonymous_variant,p.=,ENST00000542398,NM_001166278.1;DLG3,intron_variant,,ENST00000374360,NM_021120.3;DLG3,non_coding_transcript_exon_variant,,ENST00000461646,;DLG3,non_coding_transcript_exon_variant,,ENST00000466140,;DLG3,non_coding_transcript_exon_variant,,ENST00000489733,;DLG3,downstream_gene_variant,,ENST00000494493,;DLG3,non_coding_transcript_exon_variant,,ENST00000463252,;DLG3,upstream_gene_variant,,ENST00000496931,;							MODIFIER	-/2454		DLG3_HUMAN			Transcript			.	ENSP00000363480		CCDS14403.1			1	
DNAH3	0	LGGM	GRCh37	16	21033321	21033321	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	15	14	.	.	ENST00000261383.3:c.5748A>T	p.Ser1916=	p.S1916=	ENST00000261383	NM_017539.1	1916	tcA/tcT	0	1	1	UPI00001100F2	0		ENST00000261383		ENSG00000158486	2949		29			HGNC	p.S1916S		DNAH3		SNV							ENST00000261383	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242		S		A		5748/12394							YES	DNAH3,synonymous_variant,p.=,ENST00000261383,NM_017539.1;DNAH3,intron_variant,,ENST00000415178,;DNAH3,non_coding_transcript_exon_variant,,ENST00000572640,;DNAH3,intron_variant,,ENST00000572931,;							LOW	5748/12351		DYH3_HUMAN			Transcript			.	ENSP00000261383		CCDS10594.1			1	
BRDT	0	LGGM	GRCh37	1	92441827	92441827	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	19	14	.	.	ENST00000362005.3:c.450T>A	p.Thr150=	p.T150=	ENST00000362005	NM_001242805.1	150	acT/acA	0	1	1	UPI000013D0E1	0		ENST00000362005		ENSG00000137948	1105		33			HGNC	p.T104T		BRDT		SNV							ENST00000394530	protein_coding			hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133		T		A		868/3409				F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN			YES	BRDT,synonymous_variant,p.=,ENST00000370389,NM_001242810.1;BRDT,synonymous_variant,p.=,ENST00000362005,NM_001242805.1;BRDT,synonymous_variant,p.=,ENST00000399546,NM_001242806.1,NM_207189.2;BRDT,synonymous_variant,p.=,ENST00000402388,NM_001726.3;BRDT,synonymous_variant,p.=,ENST00000394530,NM_001242808.1,NM_001242807.1;BRDT,synonymous_variant,p.=,ENST00000426141,;BRDT,synonymous_variant,p.=,ENST00000427104,;BRDT,synonymous_variant,p.=,ENST00000440509,;BRDT,synonymous_variant,p.=,ENST00000423434,;BRDT,synonymous_variant,p.=,ENST00000448194,;BRDT,upstream_gene_variant,,ENST00000484781,;							LOW	450/2844		BRDT_HUMAN			Transcript			.	ENSP00000354568		CCDS735.1			1	
SLC25A10	0	LGGM	GRCh37	17	79674174	79674174	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	28	14	.	.	ENST00000333676.3:c.501C>A	p.Ser167=	p.S167=	ENST00000333676	NM_002949.3	167	tcC/tcA	0	1		UPI00017A75DC	0		ENST00000571730		ENSG00000262660	10980		42			Uniprot_gn	p.S167S		SLC25A10		SNV							ENST00000541223	protein_coding			Gene3D:3.30.1390.10,Pfam_domain:PF00542,Superfamily_domains:SSF54736		S		A		632/1922				B4E1E9_HUMAN,B4DLN1_HUMAN,A4UCS1_HUMAN			YES	SLC25A10,synonymous_variant,p.=,ENST00000571730,;SLC25A10,synonymous_variant,p.=,ENST00000541223,;MRPL12,synonymous_variant,p.=,ENST00000333676,NM_002949.3;RP13-1032I1.7,upstream_gene_variant,,ENST00000575312,;HGS,downstream_gene_variant,,ENST00000570652,;							LOW	501/1329					Transcript			.	ENSP00000461324					1	
RTL1	0	LGGM	GRCh37	14	101348757	101348757	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	26	15	.	.	ENST00000534062.1:c.2369A>T	p.Asn790Ile	p.N790I	ENST00000534062	NM_001134888.2	790	aAc/aTc	0	1	1	UPI00001D7B9E	0	getma.org/pdb.php?prot=RTL1_HUMAN&from=678&to=877&var=N791I	ENST00000534062		ENSG00000254656	14665		41	2.125		HGNC	p.N790I		RTL1		SNV			1				ENST00000534062	protein_coding	getma.org/?cm=var&var=hg19,14,101348757,T,A&fts=all		Superfamily_domains:SSF56672		N/I		A	medium	2428/4193		getma.org/?cm=msa&ty=f&p=RTL1_HUMAN&rb=678&re=877&var=N791I	deleterious(0)				YES	RTL1,missense_variant,p.Asn790Ile,ENST00000534062,NM_001134888.2;MIR433,downstream_gene_variant,,ENST00000384837,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR136,upstream_gene_variant,,ENST00000385207,;							MODERATE	2369/4077	N791I	RTL1_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000435342		CCDS53910.1			1	
PHACTR2	0	LGGM	GRCh37	6	144074959	144074959	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	27	15	.	.	ENST00000440869.2:c.364C>A	p.Arg122=	p.R122=	ENST00000440869	NM_001100164.1	122	Cga/Aga	0	1		UPI0000419279	0		ENST00000427704		ENSG00000112419	20956		42			HGNC	p.R111R		PHACTR2		SNV							ENST00000427704	protein_coding			hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF5		R		A		461/9531								PHACTR2,synonymous_variant,p.=,ENST00000427704,NM_014721.2,NM_001100166.1;PHACTR2,synonymous_variant,p.=,ENST00000367582,NM_001100165.1;PHACTR2,synonymous_variant,p.=,ENST00000440869,NM_001100164.1;PHACTR2,synonymous_variant,p.=,ENST00000367584,;PHACTR2,synonymous_variant,p.=,ENST00000305766,;PHACTR2,synonymous_variant,p.=,ENST00000397980,;PHACTR2,synonymous_variant,p.=,ENST00000542769,;PHACTR2,intron_variant,,ENST00000451827,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000402863,;PHACTR2,non_coding_transcript_exon_variant,,ENST00000420771,;							LOW	331/1905		PHAR2_HUMAN			Transcript			.	ENSP00000391763		CCDS47492.1			1	
PTPRT	0	LGGM	GRCh37	20	40757446	40757446	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	26	15	.	.	ENST00000373198.4:c.2852T>A	p.Leu951Gln	p.L951Q	ENST00000373198	NM_133170.3	951	cTg/cAg	0	1	1	UPI0000246C03	0	getma.org/pdb.php?prot=PTPRT_HUMAN&from=912&to=1142&var=L932Q	ENST00000373187		ENSG00000196090	9682		41	-1.705		HGNC	p.L954Q		PTPRT		SNV							ENST00000373198	protein_coding	getma.org/?cm=var&var=hg19,20,40757446,A,T&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799		L/Q		T	neutral	2795/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=912&re=1142&var=L932Q	tolerated(1)				YES	PTPRT,missense_variant,p.Leu951Gln,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Leu922Gln,ENST00000373201,;PTPRT,missense_variant,p.Leu935Gln,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Leu931Gln,ENST00000373190,;PTPRT,missense_variant,p.Leu922Gln,ENST00000373184,;PTPRT,missense_variant,p.Leu941Gln,ENST00000356100,;PTPRT,missense_variant,p.Leu932Gln,ENST00000373187,;							MODERATE	2795/4326	L932Q	PTPRT_HUMAN			Transcript		benign(0.002)	.	ENSP00000362283		CCDS42874.1			1	
SNTG2	0	LGGM	GRCh37	2	1312323	1312323	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	15	.	.	ENST00000308624.5:c.1342G>A	p.Ala448Thr	p.A448T	ENST00000308624	NM_018968.3	448	Gcg/Acg	0	1	1	UPI0000456D73	0	NA	ENST00000308624		ENSG00000172554	13741		36	0.915		HGNC	p.A448T	rs754085301,COSM1399336	SNTG2		SNV						0,1	ENST00000308624	protein_coding	getma.org/?cm=var&var=hg19,2,1312323,G,A&fts=all		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3		A/T		A	low	1471/1888		getma.org/?cm=msa&ty=f&p=SNTG2_HUMAN&rb=354&re=539&var=A448T	tolerated(0.25)				YES	SNTG2,missense_variant,p.Ala448Thr,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Ala321Thr,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;					0,1		MODERATE	1342/1620	A448T	SNTG2_HUMAN			Transcript		benign(0.037)	.	ENSP00000311837		CCDS46220.1			1	
TACC1	0	LGGM	GRCh37	8	38677061	38677061	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	5	15	.	.	ENST00000317827.4:c.299A>T	p.Gln100Leu	p.Q100L	ENST00000317827	NM_006283.2	100	cAg/cTg	0	1	1	UPI000013DACE	0	NA	ENST00000317827		ENSG00000147526	11522		20	1.87		HGNC	p.Q100L		TACC1		SNV			1				ENST00000524354	protein_coding	getma.org/?cm=var&var=hg19,8,38677061,A,T&fts=all		hmmpanther:PTHR13924		Q/L		T	low	678/7802		getma.org/?cm=msa&ty=f&p=TACC1_HUMAN&rb=1&re=200&var=Q100L	tolerated(0.2)	E5RJU4_HUMAN,E5RJG6_HUMAN,E5RIP3_HUMAN,E5RI10_HUMAN			YES	TACC1,missense_variant,p.Gln100Leu,ENST00000379931,;TACC1,missense_variant,p.Gln100Leu,ENST00000317827,NM_006283.2;TACC1,missense_variant,p.Gln55Leu,ENST00000518415,;TACC1,missense_variant,p.Gln116Leu,ENST00000443286,;TACC1,missense_variant,p.Gln64Leu,ENST00000520340,;TACC1,missense_variant,p.Gln72Leu,ENST00000522904,;TACC1,missense_variant,p.Gln100Leu,ENST00000524354,;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,non_coding_transcript_exon_variant,,ENST00000523834,;TACC1,non_coding_transcript_exon_variant,,ENST00000522544,;TACC1,intron_variant,,ENST00000522752,;TACC1,intron_variant,,ENST00000523239,;TACC1,non_coding_transcript_exon_variant,,ENST00000522955,;TACC1,non_coding_transcript_exon_variant,,ENST00000521154,;							MODERATE	299/2418	Q100L	TACC1_HUMAN			Transcript		benign(0.022)	.	ENSP00000321703		CCDS6109.1			1	
CNGA4	0	LGGM	GRCh37	11	6260481	6260481	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	16	.	.	ENST00000379936.2:c.45A>T	p.Pro15=	p.P15=	ENST00000379936	NM_001037329.3	15	ccA/ccT	0	1	1	UPI000004C7EC	0		ENST00000379936		ENSG00000132259	2152		37			HGNC	p.P15P		CNGA4		SNV							ENST00000379936	protein_coding					P		T		160/1863							YES	CNGA4,synonymous_variant,p.=,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;FAM160A2,upstream_gene_variant,,ENST00000265978,NM_032127.3,NM_001098794.1;FAM160A2,upstream_gene_variant,,ENST00000449352,;FAM160A2,upstream_gene_variant,,ENST00000524416,;							LOW	45/1728		CNGA4_HUMAN			Transcript			.	ENSP00000369268		CCDS31408.1			1	
OR5H2	0	LGGM	GRCh37	3	98002113	98002113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	16	.	.	ENST00000355273.2:c.382T>A	p.Tyr128Asn	p.Y128N	ENST00000355273	NM_001005482.1	128	Tat/Aat	0	1	1	UPI0000041B67	0	getma.org/pdb.php?prot=OR5H2_HUMAN&from=1&to=143&var=Y128N	ENST00000355273		ENSG00000197938	14752		57	4.04		HGNC	p.Y128N		OR5H2		SNV							ENST00000355273	protein_coding	getma.org/?cm=var&var=hg19,3,98002113,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF277,Superfamily_domains:SSF81321		Y/N		A	high	382/945		getma.org/?cm=msa&ty=f&p=OR5H2_HUMAN&rb=1&re=143&var=Y128N	deleterious(0)				YES	OR5H2,missense_variant,p.Tyr128Asn,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;							MODERATE	382/945	Y128N	OR5H2_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000347418		CCDS33801.1			1	
G6PC3	0	LGGM	GRCh37	17	42152346	42152346	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	38	16	.	.	ENST00000269097.4:c.426A>C	p.Val142=	p.V142=	ENST00000269097	NM_138387.3	142	gtA/gtC	0	1	1	UPI00000734E8	0		ENST00000269097		ENSG00000141349	24861		54			HGNC	p.V106V		G6PC3		SNV			1				ENST00000591696	protein_coding			Gene3D:1.20.144.10,Pfam_domain:PF01569,PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591,hmmpanther:PTHR12591:SF2,SMART_domains:SM00014,Superfamily_domains:SSF48317		V		C		657/1533				K7EQ13_HUMAN,K7ENK1_HUMAN			YES	G6PC3,synonymous_variant,p.=,ENST00000269097,NM_138387.3;G6PC3,synonymous_variant,p.=,ENST00000591696,;G6PC3,intron_variant,,ENST00000590253,;HDAC5,downstream_gene_variant,,ENST00000225983,;HDAC5,downstream_gene_variant,,ENST00000393622,NM_001015053.1,NM_005474.4;HDAC5,downstream_gene_variant,,ENST00000336057,;HDAC5,downstream_gene_variant,,ENST00000586802,;G6PC3,3_prime_UTR_variant,,ENST00000588558,;G6PC3,3_prime_UTR_variant,,ENST00000585361,;G6PC3,non_coding_transcript_exon_variant,,ENST00000590639,;G6PC3,downstream_gene_variant,,ENST00000585962,;G6PC3,downstream_gene_variant,,ENST00000593115,;HDAC5,downstream_gene_variant,,ENST00000586339,;							LOW	426/1041		G6PC3_HUMAN			Transcript			.	ENSP00000269097		CCDS11476.1			1	
ZNF484	0	LGGM	GRCh37	9	95637343	95637343	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	26	17	.	.	ENST00000395506.3:c.21+2759A>G		*7*	ENST00000395506				0	1		UPI00001B64FA	0		ENST00000375495		ENSG00000127081	23385		43			HGNC	-		ZNF484		SNV							-	protein_coding							C		-/2867								ZNF484,splice_acceptor_variant,,ENST00000375495,NM_031486.2;ZNF484,intron_variant,,ENST00000395506,;ZNF484,intron_variant,,ENST00000332591,NM_001007101.2,NM_001261458.1;ANKRD19P,intron_variant,,ENST00000473204,;							HIGH	-/2559		ZN484_HUMAN			Transcript			.	ENSP00000364645		CCDS35066.1			1	
CD200R1L	0	LGGM	GRCh37	3	112545953	112545953	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	17	.	.	ENST00000398214.1:c.566A>C	p.Asn189Thr	p.N189T	ENST00000398214	NM_001008784.2	189	aAt/aCt	0	1	1	UPI000042263C	0	NA	ENST00000398214		ENSG00000206531	24665		34	3.015		HGNC	p.N168T		CD200R1L		SNV							ENST00000488794	protein_coding	getma.org/?cm=var&var=hg19,3,112545953,T,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF3,Superfamily_domains:SSF48726		N/T		G	medium	792/1296		getma.org/?cm=msa&ty=f&p=MO2R2_HUMAN&rb=142&re=219&var=N189T	deleterious(0)				YES	CD200R1L,missense_variant,p.Asn168Thr,ENST00000488794,;CD200R1L,missense_variant,p.Asn168Thr,ENST00000448932,NM_001199215.1;CD200R1L,missense_variant,p.Asn189Thr,ENST00000398214,NM_001008784.2;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;							MODERATE	566/816	N189T	MO2R2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000381272		CCDS43131.1			1	
EYA2	0	LGGM	GRCh37	20	45702800	45702800	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	24	17	.	.	ENST00000327619.5:c.487T>A	p.Tyr163Asn	p.Y163N	ENST00000327619	NM_005244.4	163	Tat/Aat	0	1	1	UPI000012A3B4	0	NA	ENST00000327619		ENSG00000064655	3520		41	2.465		HGNC	p.Y163N		EYA2		SNV							ENST00000357410	protein_coding	getma.org/?cm=var&var=hg19,20,45702800,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10190:SF7,hmmpanther:PTHR10190		Y/N		A	medium	861/2702		getma.org/?cm=msa&ty=f&p=EYA2_HUMAN&rb=1&re=536&var=Y163N	deleterious(0)	O60647_HUMAN			YES	EYA2,missense_variant,p.Tyr163Asn,ENST00000327619,NM_005244.4;EYA2,missense_variant,p.Tyr163Asn,ENST00000357410,NM_172110.3;EYA2,missense_variant,p.Tyr163Asn,ENST00000317304,;EYA2,intron_variant,,ENST00000458636,;EYA2,missense_variant,p.Tyr139Asn,ENST00000497062,;RP5-1050K3.3,downstream_gene_variant,,ENST00000429337,;							MODERATE	487/1617	Y163N	EYA2_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000333640		CCDS13403.1			1	
CXCL10	0	LGGM	GRCh37	4	76943538	76943538	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	31	17	.	.	ENST00000306602.1:c.259A>T	p.Lys87Ter	p.K87*	ENST00000306602	NM_001565.3	87	Aaa/Taa	0	1	1	UPI0000136773	0		ENST00000306602		ENSG00000169245	10637		48			HGNC	p.K87X		CXCL10		SNV							ENST00000306602	protein_coding			hmmpanther:PTHR10179:SF5,hmmpanther:PTHR10179,Pfam_domain:PF00048,Gene3D:2.40.50.40,SMART_domains:SM00199,Superfamily_domains:SSF54117		K/*		A		325/1173							YES	CXCL10,stop_gained,p.Lys87Ter,ENST00000306602,NM_001565.3;ART3,intron_variant,,ENST00000341029,NM_001130017.2;ART3,intron_variant,,ENST00000513122,;ART3,intron_variant,,ENST00000504914,;ART3,intron_variant,,ENST00000513353,;ART3,intron_variant,,ENST00000510669,;							HIGH	259/297		CXL10_HUMAN			Transcript			.	ENSP00000305651		CCDS43240.1			1	
SLC25A13	0	LGGM	GRCh37	7	95750520	95750520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	25	17	.	.	ENST00000416240.2:c.2014A>G	p.Ile672Val	p.I672V	ENST00000416240	NM_014251.2	672	Att/Gtt	0	1		UPI0000127BC3	0	NA	ENST00000265631		ENSG00000004864	10983		42	-1.1		HGNC	p.I671V		SLC25A13		SNV			1				ENST00000265631	protein_coding	getma.org/?cm=var&var=hg19,7,95750520,T,C&fts=all				I/V		C	neutral	2148/3136		getma.org/?cm=msa&ty=f&p=CMC2_HUMAN&rb=630&re=675&var=I671V	tolerated_low_confidence(1)	Q75KX8_HUMAN				SLC25A13,missense_variant,p.Ile672Val,ENST00000416240,NM_014251.2,NM_001160210.1;SLC25A13,missense_variant,p.Ile671Val,ENST00000265631,;SLC25A13,missense_variant,p.Ile563Val,ENST00000542654,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000494085,;							MODERATE	2011/2028	I671V	CMC2_HUMAN			Transcript		benign(0)	.	ENSP00000265631		CCDS5645.1			1	
XKR7	0	LGGM	GRCh37	20	30585156	30585156	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	18	.	.	ENST00000562532.2:c.1636A>T	p.Lys546Ter	p.K546*	ENST00000562532	NM_001011718.1	546	Aag/Tag	0	1	1	UPI00004C7A9E	0	NA	ENST00000562532		ENSG00000260903	23062		39	0		HGNC	p.K546X		XKR7		SNV							ENST00000217299	protein_coding	getma.org/?cm=var&var=hg19,20,30585156,A,T&fts=all		hmmpanther:PTHR32129,hmmpanther:PTHR32129:SF9		K/*		T	NA	1810/7844		NA					YES	XKR7,stop_gained,p.Lys546Ter,ENST00000562532,NM_001011718.1;							HIGH	1636/1740	K546*	XKR7_HUMAN			Transcript			.	ENSP00000477059		CCDS33459.1			1	
FPR3	0	LGGM	GRCh37	19	52327256	52327256	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	39	18	.	.	ENST00000339223.4:c.255C>T	p.Val85=	p.V85=	ENST00000339223	NM_002030.3	85	gtC/gtT	0	1	1	UPI000011DFC1	0		ENST00000339223		ENSG00000187474	3828	8.64E-05	57			HGNC	p.V85V	rs780689685	FPR3		SNV							ENST00000339223	protein_coding			Prints_domain:PR00526,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,PROSITE_profiles:PS50262		V		T		434/2620				Q6L5J4_HUMAN			YES	FPR3,synonymous_variant,p.=,ENST00000339223,NM_002030.3;FPR3,synonymous_variant,p.=,ENST00000595991,;							LOW	255/1062		FPR3_HUMAN	0.000151		Transcript			.	ENSP00000341821	1.65E-05	CCDS12841.1			1	
LRRC39	0	LGGM	GRCh37	1	100634029	100634029	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	18	.	.	ENST00000370138.1:c.44A>T	p.Lys15Met	p.K15M	ENST00000370138	NM_001256385.1	15	aAg/aTg	0	1		UPI0000070C71	0	NA	ENST00000342895		ENSG00000122477	28228		50	0.975		HGNC	p.K15M		LRRC39		SNV							ENST00000370137	protein_coding	getma.org/?cm=var&var=hg19,1,100634029,T,A&fts=all		Coiled-coils_(Ncoils):Coil		K/M		A	low	243/1396		getma.org/?cm=msa&ty=f&p=LRC39_HUMAN&rb=1&re=39&var=K15M	deleterious(0)					LRRC39,missense_variant,p.Lys15Met,ENST00000370138,NM_001256385.1;LRRC39,missense_variant,p.Lys15Met,ENST00000342895,NM_001256387.1;LRRC39,missense_variant,p.Lys15Met,ENST00000370137,NM_001256386.1,NM_144620.3;							MODERATE	44/1008	K15M	LRC39_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000344470		CCDS766.1			1	
SIDT1	0	LGGM	GRCh37	3	113299462	113299462	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	18	.	.	ENST00000264852.4:c.569T>A	p.Leu190Gln	p.L190Q	ENST00000264852	NM_017699.2	190	cTa/cAa	0	1	1	UPI000013D581	0	NA	ENST00000264852		ENSG00000072858	25967		52	0.95		HGNC	p.L190Q		SIDT1		SNV							ENST00000264852	protein_coding	getma.org/?cm=var&var=hg19,3,113299462,T,A&fts=all		Pfam_domain:PF13965,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15		L/Q		A	low	1295/5080		getma.org/?cm=msa&ty=f&p=SIDT1_HUMAN&rb=184&re=827&var=L190Q	tolerated(0.31)	B4E0H9_HUMAN			YES	SIDT1,missense_variant,p.Leu190Gln,ENST00000264852,NM_017699.2;SIDT1,missense_variant,p.Leu190Gln,ENST00000393830,;SIDT1,non_coding_transcript_exon_variant,,ENST00000491730,;SIDT1,upstream_gene_variant,,ENST00000488390,;							MODERATE	569/2484	L190Q	SIDT1_HUMAN			Transcript		benign(0.42)	.	ENSP00000264852		CCDS2974.1			1	
AP4E1	0	LGGM	GRCh37	15	51285725	51285725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	18	.	.	ENST00000261842.5:c.2249A>G	p.Gln750Arg	p.Q750R	ENST00000261842	NM_001252127.1	750	cAa/cGa	0	1	1	UPI00001D89D8	0	NA	ENST00000261842		ENSG00000081014	573		50	0.695		HGNC	p.Q750R		AP4E1		SNV			1				ENST00000261842	protein_coding	getma.org/?cm=var&var=hg19,15,51285725,A,G&fts=all		hmmpanther:PTHR22780:SF13,hmmpanther:PTHR22780,PIRSF_domain:PIRSF037097		Q/R		G	neutral	2355/6758		getma.org/?cm=msa&ty=f&p=AP4E1_HUMAN&rb=725&re=759&var=Q750R	tolerated(0.28)				YES	AP4E1,missense_variant,p.Gln750Arg,ENST00000261842,NM_001252127.1,NM_007347.4;AP4E1,missense_variant,p.Gln675Arg,ENST00000560508,;AP4E1,upstream_gene_variant,,ENST00000561397,;AP4E1,3_prime_UTR_variant,,ENST00000558439,;AP4E1,3_prime_UTR_variant,,ENST00000561393,;							MODERATE	2249/3414	Q750R	AP4E1_HUMAN			Transcript		benign(0.025)	.	ENSP00000261842		CCDS32240.1			1	
ANKRD30B	0	LGGM	GRCh37	18	14851735	14851735	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	50	18	.	.	ENST00000358984.4:c.3435A>T	p.Arg1145Ser	p.R1145S	ENST00000358984	NM_001145029.1	1145	agA/agT	0	1	1	UPI0000425FF7	0	NA	ENST00000358984		ENSG00000180777	24165		68	-1.2		HGNC	p.R1145S		ANKRD30B		SNV							ENST00000358984	protein_coding	getma.org/?cm=var&var=hg19,18,14851735,A,T&fts=all		Pfam_domain:PF14915,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20		R/S		T	neutral	3615/4359		getma.org/?cm=msa&ty=f&p=AN30B_HUMAN&rb=321&re=1392&var=R1145S	tolerated(1)				YES	ANKRD30B,missense_variant,p.Arg1145Ser,ENST00000358984,NM_001145029.1;ANKRD30B,non_coding_transcript_exon_variant,,ENST00000320584,;							MODERATE	3435/4179	R1145S	AN30B_HUMAN			Transcript		benign(0.002)	.	ENSP00000351875		CCDS54182.1			1	
RNF138	0	LGGM	GRCh37	18	29704695	29704695	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	17	19	.	.	ENST00000261593.3:c.450-2A>T		p.X150_splice	ENST00000261593	NM_001191324.1			0	1	1	UPI00000702BA	0		ENST00000261593		ENSG00000134758	17765		36			HGNC	-		RNF138		SNV							ENST00000261593	protein_coding							T		-/3570				J3KSI2_HUMAN,J3KRU4_HUMAN			YES	RNF138,splice_acceptor_variant,,ENST00000261593,NM_001191324.1,NM_016271.4;RNF138,splice_acceptor_variant,,ENST00000257190,NM_198128.2;RNF138,splice_acceptor_variant,,ENST00000580499,;RNF138,splice_acceptor_variant,,ENST00000577999,;GAREM,downstream_gene_variant,,ENST00000583696,;RP11-53I6.4,upstream_gene_variant,,ENST00000583138,;							HIGH	450/738		RN138_HUMAN			Transcript			.	ENSP00000261593		CCDS11903.1			1	
CSF2RB	0	LGGM	GRCh37	22	37322144	37322144	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	21	19	.	.	ENST00000403662.3:c.316A>T	p.Thr106Ser	p.T106S	ENST00000403662		106	Act/Tct	0	1	1	UPI0000128C9F	0	getma.org/pdb.php?prot=IL3RB_HUMAN&from=1&to=200&var=T106S	ENST00000403662		ENSG00000100368	2436		40	-0.805		HGNC	p.T26S		CSF2RB		SNV			1				ENST00000421539	protein_coding	getma.org/?cm=var&var=hg19,22,37322144,A,T&fts=all		Gene3D:2.60.40.10,PIRSF_domain:PIRSF001956,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,Superfamily_domains:SSF49265		T/S		T	neutral	538/4863		getma.org/?cm=msa&ty=f&p=IL3RB_HUMAN&rb=1&re=200&var=T106S	tolerated(0.48)	B0QY07_HUMAN			YES	CSF2RB,missense_variant,p.Thr106Ser,ENST00000262825,NM_000395.2;CSF2RB,missense_variant,p.Thr106Ser,ENST00000403662,;CSF2RB,missense_variant,p.Thr106Ser,ENST00000406230,;CSF2RB,missense_variant,p.Thr47Ser,ENST00000536485,;CSF2RB,missense_variant,p.Thr26Ser,ENST00000421539,;							MODERATE	316/2694	T106S	IL3RB_HUMAN			Transcript		benign(0)	.	ENSP00000384053		CCDS13936.1			1	
NPAS3	0	LGGM	GRCh37	14	34243681	34243681	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	36	19	.	.	ENST00000356141.4:c.991C>A	p.His331Asn	p.H331N	ENST00000356141		331	Cat/Aat	0	1	1	UPI00000743C2	0	getma.org/pdb.php?prot=NPAS3_HUMAN&from=319&to=389&var=H331N	ENST00000356141		ENSG00000151322	19311		55	-0.925		HGNC	p.H318N		NPAS3		SNV							ENST00000357798	protein_coding	getma.org/?cm=var&var=hg19,14,34243681,C,A&fts=all		hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043,SMART_domains:SM00091		H/N		A	neutral	991/2802		getma.org/?cm=msa&ty=f&p=NPAS3_HUMAN&rb=319&re=389&var=H331N	tolerated(0.54)				YES	NPAS3,missense_variant,p.His299Asn,ENST00000346562,NM_022123.2,NM_173159.2,NM_001164749.1,NM_001165893.1;NPAS3,missense_variant,p.His301Asn,ENST00000548645,;NPAS3,missense_variant,p.His336Asn,ENST00000551492,;NPAS3,missense_variant,p.His331Asn,ENST00000356141,;NPAS3,missense_variant,p.His318Asn,ENST00000357798,;NPAS3,missense_variant,p.His308Asn,ENST00000551634,;NPAS3,missense_variant,p.His78Asn,ENST00000552874,;							MODERATE	991/2802	H331N	NPAS3_HUMAN			Transcript		benign(0.084)	.	ENSP00000348460		CCDS53891.1			1	
UNC5D	0	LGGM	GRCh37	8	35583727	35583727	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	9	19	.	.	ENST00000404895.2:c.1361A>T	p.Tyr454Phe	p.Y454F	ENST00000404895	NM_080872.2	454	tAc/tTc	0	1	1	UPI00001D6915	0	NA	ENST00000404895		ENSG00000156687	18634		28	2.175		HGNC	p.Y385F		UNC5D		SNV							ENST00000287272	protein_coding	getma.org/?cm=var&var=hg19,8,35583727,A,T&fts=all		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5		Y/F		T	medium	1689/3252		getma.org/?cm=msa&ty=f&p=UNC5D_HUMAN&rb=360&re=539&var=Y454F	tolerated(0.13)				YES	UNC5D,missense_variant,p.Tyr385Phe,ENST00000287272,;UNC5D,missense_variant,p.Tyr449Phe,ENST00000453357,;UNC5D,missense_variant,p.Tyr459Phe,ENST00000416672,;UNC5D,missense_variant,p.Tyr454Phe,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.Tyr387Phe,ENST00000420357,;UNC5D,missense_variant,p.Tyr30Phe,ENST00000449677,;UNC5D,non_coding_transcript_exon_variant,,ENST00000474634,;							MODERATE	1361/2862	Y454F	UNC5D_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000385143		CCDS6093.2			1	
PSME4	0	LGGM	GRCh37	2	54148044	54148044	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	33	19	.	.	ENST00000404125.1:c.2244T>G	p.Ser748=	p.S748=	ENST00000404125	NM_014614.2	748	tcT/tcG	0	1	1	UPI0000F3BE4A	0		ENST00000404125		ENSG00000068878	20635		52			HGNC	p.S748S		PSME4		SNV							ENST00000404125	protein_coding			hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF0		S		C		2300/7099							YES	PSME4,synonymous_variant,p.=,ENST00000404125,NM_014614.2;PSME4,intron_variant,,ENST00000421748,;PSME4,3_prime_UTR_variant,,ENST00000389993,;							LOW	2244/5532		PSME4_HUMAN			Transcript			.	ENSP00000384211		CCDS33197.2			1	
HIVEP3	0	LGGM	GRCh37	1	42046251	42046251	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	20	.	.	ENST00000372583.1:c.4218A>T	p.Lys1406Asn	p.K1406N	ENST00000372583	NM_024503.4	1406	aaA/aaT	0	1		UPI000013CC24	0	NA	ENST00000247584		ENSG00000127124	13561		63	1.445		HGNC	p.K1406N		HIVEP3		SNV							ENST00000372584	protein_coding	getma.org/?cm=var&var=hg19,1,42046251,T,A&fts=all		hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233		K/N		A	low	5024/8465		getma.org/?cm=msa&ty=f&p=ZEP3_HUMAN&rb=1311&re=1589&var=K1406N						HIVEP3,missense_variant,p.Lys1406Asn,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Lys1406Asn,ENST00000372583,NM_024503.4;HIVEP3,missense_variant,p.Lys1406Asn,ENST00000247584,;HIVEP3,missense_variant,p.Lys1406Asn,ENST00000429157,;HIVEP3,upstream_gene_variant,,ENST00000460604,;							MODERATE	4218/7221	K1406N	ZEP3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000247584		CCDS463.1			1	
SCEL	0	LGGM	GRCh37	13	78218400	78218400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	8	20	.	.	ENST00000349847.3:c.2058G>T	p.Trp686Cys	p.W686C	ENST00000349847	NM_144777.2	686	tgG/tgT	0	1	1	UPI000013CFF1	0	NA	ENST00000349847		ENSG00000136155	10573		28	0.55		HGNC	p.W644C		SCEL		SNV							ENST00000535157	protein_coding	getma.org/?cm=var&var=hg19,13,78218400,G,T&fts=all		hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468		W/C		T	neutral	2142/2386		getma.org/?cm=msa&ty=f&p=SCEL_HUMAN&rb=610&re=688&var=W686C	deleterious(0)				YES	SCEL,missense_variant,p.Trp644Cys,ENST00000535157,NM_001160706.1;SCEL,missense_variant,p.Trp666Cys,ENST00000377246,NM_003843.3;SCEL,missense_variant,p.Trp686Cys,ENST00000349847,NM_144777.2;							MODERATE	2058/2067	W686C	SCEL_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000302579		CCDS9459.1			1	
RANBP2	0	LGGM	GRCh37	2	109381136	109381136	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	20	.	.	ENST00000283195.6:c.4141A>T	p.Ser1381Cys	p.S1381C	ENST00000283195	NM_006267.4	1381	Agc/Tgc	0	1	1	UPI0000207FB9	0	NA	ENST00000283195		ENSG00000153201	9848		61	0.895		HGNC	p.S1381C		RANBP2		SNV			1				ENST00000283195	protein_coding	getma.org/?cm=var&var=hg19,2,109381136,A,T&fts=all		Pfam_domain:PF00641,PROSITE_profiles:PS50199,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8		S/C		T	low	4267/11711		getma.org/?cm=msa&ty=f&p=RBP2_HUMAN&rb=1351&re=1381&var=S1381C	deleterious(0.01)	I1Z9D1_HUMAN			YES	RANBP2,missense_variant,p.Ser1381Cys,ENST00000283195,NM_006267.4;							MODERATE	4141/9675	S1381C	RBP2_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000283195		CCDS2079.1			1	
PEX5L	0	LGGM	GRCh37	3	179527284	179527284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	41	20	.	.	ENST00000467460.1:c.1327C>T	p.Arg443Trp	p.R443W	ENST00000467460	NM_001256751.1	443	Cgg/Tgg	0	1	1	UPI0000049CE2	0	getma.org/pdb.php?prot=PEX5R_HUMAN&from=394&to=472&var=R443W	ENST00000467460		ENSG00000114757	30024		61	1.905		HGNC	p.R331W	rs745973382	PEX5L	6.06E-05	SNV							ENST00000467440	protein_coding	getma.org/?cm=var&var=hg19,3,179527284,G,A&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130,Superfamily_domains:SSF48452		R/W		A	medium	1658/9082		getma.org/?cm=msa&ty=f&p=PEX5R_HUMAN&rb=394&re=472&var=R443W	deleterious(0)	C9JZE2_HUMAN,C9IZ09_HUMAN			YES	PEX5L,missense_variant,p.Arg443Trp,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,missense_variant,p.Arg408Trp,ENST00000485199,NM_001256752.1;PEX5L,missense_variant,p.Arg441Trp,ENST00000263962,NM_001256750.1;PEX5L,missense_variant,p.Arg400Trp,ENST00000476138,NM_001256754.1;PEX5L,missense_variant,p.Arg335Trp,ENST00000392649,;PEX5L,missense_variant,p.Arg251Trp,ENST00000468741,NM_001256756.1;PEX5L,missense_variant,p.Arg384Trp,ENST00000472994,NM_001256753.1;PEX5L,missense_variant,p.Arg419Trp,ENST00000465751,;PEX5L,missense_variant,p.Arg335Trp,ENST00000464614,NM_001256755.1;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,downstream_gene_variant,,ENST00000461537,;PEX5L,downstream_gene_variant,,ENST00000477829,;							MODERATE	1327/1881	R443W	PEX5R_HUMAN			Transcript		benign(0.329)	.	ENSP00000419975	8.24E-06	CCDS3236.1			1	
TEX37	0	LGGM	GRCh37	2	88825942	88825942	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	23	20	.	.	ENST00000303254.3:c.47T>A	p.Ile16Lys	p.I16K	ENST00000303254	NM_152670.2	16	aTa/aAa	0	1	1	UPI0000072E9C	0	NA	ENST00000303254		ENSG00000172073	26341		43	0.975		HGNC	p.I16K		TEX37		SNV							ENST00000303254	protein_coding	getma.org/?cm=var&var=hg19,2,88825942,T,A&fts=all		Pfam_domain:PF15217		I/K		A	low	189/795		getma.org/?cm=msa&ty=f&p=TSC21_HUMAN&rb=1&re=178&var=I16K	deleterious_low_confidence(0)				YES	TEX37,missense_variant,p.Ile16Lys,ENST00000303254,NM_152670.2;							MODERATE	47/543	I16K	TEX37_HUMAN			Transcript		benign(0.148)	.	ENSP00000307142		CCDS2003.1			1	
TTC32	0	LGGM	GRCh37	2	20096875	20096875	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	20	.	.	ENST00000333610.3:c.329A>T	p.Asp110Val	p.D110V	ENST00000333610	NM_001008237.1	110	gAt/gTt	0	1	1	UPI0000039E8C	0	getma.org/pdb.php?prot=TTC32_HUMAN&from=56&to=123&var=D110V	ENST00000333610		ENSG00000183891	32954		52	1.585		HGNC	p.D110V		TTC32		SNV							ENST00000333610	protein_coding	getma.org/?cm=var&var=hg19,2,20096875,T,A&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF13414,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF286,SMART_domains:SM00028,Superfamily_domains:SSF48452		D/V		A	low	461/822		getma.org/?cm=msa&ty=f&p=TTC32_HUMAN&rb=56&re=123&var=D110V	deleterious(0.01)				YES	TTC32,missense_variant,p.Asp110Val,ENST00000333610,NM_001008237.1;TTC32,3_prime_UTR_variant,,ENST00000402414,;TTC32,downstream_gene_variant,,ENST00000431392,;RP11-79O8.1,upstream_gene_variant,,ENST00000607190,;TTC32,non_coding_transcript_exon_variant,,ENST00000495698,;							MODERATE	329/456	D110V	TTC32_HUMAN			Transcript		benign(0.312)	.	ENSP00000333018		CCDS33151.1			1	
RANBP2	0	LGGM	GRCh37	2	109381127	109381127	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	20	.	.	ENST00000283195.6:c.4132C>G	p.Leu1378Val	p.L1378V	ENST00000283195	NM_006267.4	1378	Cta/Gta	0	1	1	UPI0000207FB9	0	NA	ENST00000283195		ENSG00000153201	9848		57	0.35		HGNC	p.L1378V		RANBP2		SNV			1				ENST00000283195	protein_coding	getma.org/?cm=var&var=hg19,2,109381127,C,G&fts=all		Pfam_domain:PF00641,PROSITE_profiles:PS50199,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8,SMART_domains:SM00547		L/V		G	neutral	4258/11711		getma.org/?cm=msa&ty=f&p=RBP2_HUMAN&rb=1351&re=1381&var=L1378V	tolerated(1)	I1Z9D1_HUMAN			YES	RANBP2,missense_variant,p.Leu1378Val,ENST00000283195,NM_006267.4;							MODERATE	4132/9675	L1378V	RBP2_HUMAN			Transcript		benign(0.194)	.	ENSP00000283195		CCDS2079.1			1	
NPAP1	0	LGGM	GRCh37	15	24923916	24923916	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	30	20	.	.	ENST00000329468.2:c.2902A>T	p.Asn968Tyr	p.N968Y	ENST00000329468	NM_018958.2	968	Aat/Tat	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		50	0.69		HGNC	p.N968Y		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24923916,A,T&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15		N/Y		T	neutral	3376/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=N968Y	deleterious(0.02)				YES	NPAP1,missense_variant,p.Asn968Tyr,ENST00000329468,NM_018958.2;							MODERATE	2902/3471	N968Y	NPAP1_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000333735		CCDS10015.1			1	
CASP10	0	LGGM	GRCh37	2	202050550	202050550	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	27	21	.	.	ENST00000286186.6:c.50A>C	p.Lys17Thr	p.K17T	ENST00000286186	NM_032977.3	17	aAa/aCa	0	1		UPI000004466C	0	NA	ENST00000272879		ENSG00000003400	1500		48	0.55		HGNC	p.K17T		CASP10		SNV			1				ENST00000272879	protein_coding	getma.org/?cm=var&var=hg19,2,202050550,A,C&fts=all		hmmpanther:PTHR10454		K/T		C	neutral	234/2073		getma.org/?cm=msa&ty=f&p=CASPA_HUMAN&rb=1&re=49&var=K17T	tolerated(0.29)					CASP10,missense_variant,p.Lys17Thr,ENST00000286186,NM_032977.3;CASP10,missense_variant,p.Lys17Thr,ENST00000360132,NM_032976.3,NM_001230.4,NM_001206524.1;CASP10,missense_variant,p.Lys17Thr,ENST00000346817,;CASP10,missense_variant,p.Lys17Thr,ENST00000272879,NM_032974.4;CASP10,missense_variant,p.Lys17Thr,ENST00000448480,NM_001206542.1;CASP10,missense_variant,p.Lys17Thr,ENST00000313728,;CASP10,missense_variant,p.Lys17Thr,ENST00000374650,;CASP10,non_coding_transcript_exon_variant,,ENST00000492363,;CASP10,missense_variant,p.Lys17Thr,ENST00000438843,;CASP10,non_coding_transcript_exon_variant,,ENST00000460140,;CASP10,non_coding_transcript_exon_variant,,ENST00000484926,;CASP10,upstream_gene_variant,,ENST00000485408,;CASP10,upstream_gene_variant,,ENST00000471191,;							MODERATE	50/1566	K17T	CASPA_HUMAN			Transcript		benign(0.007)	.	ENSP00000272879		CCDS2338.1			1	
ADCYAP1R1	0	LGGM	GRCh37	7	31124397	31124397	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	27	21	.	.	ENST00000396211.2:c.484A>C	p.Ser162Arg	p.S162R	ENST00000396211		162	Agc/Cgc	0	1		UPI0000061EE0	0	NA	ENST00000304166		ENSG00000078549	242		48	3.555		HGNC	p.S162R		ADCYAP1R1		SNV							ENST00000396211	protein_coding	getma.org/?cm=var&var=hg19,7,31124397,A,C&fts=all		Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF228,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/R		C	high	773/6487		getma.org/?cm=msa&ty=f&p=PACR_HUMAN&rb=150&re=396&var=S162R	deleterious(0.01)	C9JVH3_HUMAN				ADCYAP1R1,missense_variant,p.Ser162Arg,ENST00000304166,NM_001199636.1,NM_001199635.1,NM_001118.4;ADCYAP1R1,missense_variant,p.Ser141Arg,ENST00000409363,NM_001199637.1;ADCYAP1R1,missense_variant,p.Ser162Arg,ENST00000409489,;ADCYAP1R1,missense_variant,p.Ser162Arg,ENST00000396211,;ADCYAP1R1,upstream_gene_variant,,ENST00000436116,;							MODERATE	484/1407	S162R	PACR_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000306620		CCDS5433.1			1	
GPR148	0	LGGM	GRCh37	2	131486813	131486813	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	21	.	.	ENST00000309926.4:c.89A>T	p.Gln30Leu	p.Q30L	ENST00000309926	NM_207364.2	30	cAa/cTa	0	1	1	UPI0000048E0D	0	NA	ENST00000309926		ENSG00000173302	23623		55	0		HGNC	p.Q30L		GPR148		SNV							ENST00000309926	protein_coding	getma.org/?cm=var&var=hg19,2,131486813,A,T&fts=all				Q/L		T	neutral	171/1267		getma.org/?cm=msa&ty=f&p=GP148_HUMAN&rb=1&re=67&var=Q30L	tolerated(0.09)				YES	GPR148,missense_variant,p.Gln30Leu,ENST00000309926,NM_207364.2;							MODERATE	89/1044	Q30L	GP148_HUMAN			Transcript		benign(0.145)	.	ENSP00000308908		CCDS2163.1			1	
C4orf47	0	LGGM	GRCh37	4	186357265	186357265	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	21	.	.	ENST00000378850.4:c.386A>C	p.Lys129Thr	p.K129T	ENST00000378850	NM_001114357.1	129	aAa/aCa	0	1	1	UPI0000422C9D	0	NA	ENST00000378850		ENSG00000205129	34346		67	2.455		HGNC	p.K129T		C4orf47		SNV							ENST00000511138	protein_coding	getma.org/?cm=var&var=hg19,4,186357265,A,C&fts=all		hmmpanther:PTHR31144,hmmpanther:PTHR31144:SF1,Pfam_domain:PF15239		K/T		C	medium	408/1134		getma.org/?cm=msa&ty=f&p=CD047_HUMAN&rb=1&re=299&var=K129T	tolerated(0.11)	D6RCA9_HUMAN,D6R9T4_HUMAN			YES	C4orf47,missense_variant,p.Lys129Thr,ENST00000378850,NM_001114357.1;C4orf47,missense_variant,p.Lys129Thr,ENST00000511581,;C4orf47,missense_variant,p.Lys129Thr,ENST00000511138,;C4orf47,3_prime_UTR_variant,,ENST00000508698,;C4orf47,3_prime_UTR_variant,,ENST00000512770,;C4orf47,3_prime_UTR_variant,,ENST00000501066,;							MODERATE	386/930	K129T	CD047_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000368127		CCDS47169.1			1	
NLE1	0	LGGM	GRCh37	17	33462408	33462408	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	22	21	.	.	ENST00000442241.4:c.1074A>T	p.Pro358=	p.P358=	ENST00000442241	NM_001014445.1	358	ccA/ccT	0	1	1	UPI000013D293	0		ENST00000442241		ENSG00000073536	19889		43			HGNC	p.P316P		NLE1		SNV							ENST00000360831	protein_coding			PROSITE_profiles:PS50294,hmmpanther:PTHR19848:SF0,hmmpanther:PTHR19848,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		P		A		1114/2588				K7ERN7_HUMAN			YES	NLE1,synonymous_variant,p.=,ENST00000586869,;NLE1,synonymous_variant,p.=,ENST00000442241,NM_001014445.1,NM_018096.3;NLE1,synonymous_variant,p.=,ENST00000360831,;NLE1,synonymous_variant,p.=,ENST00000588019,;FNDC8,downstream_gene_variant,,ENST00000158009,NM_017559.2;NLE1,downstream_gene_variant,,ENST00000593176,;NLE1,downstream_gene_variant,,ENST00000589367,;NLE1,downstream_gene_variant,,ENST00000588642,;							LOW	1074/1458		NLE1_HUMAN			Transcript			.	ENSP00000413572		CCDS11291.1			1	
DCDC1	0	LGGM	GRCh37	11	31112949	31112949	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	33	21	.	.	ENST00000597505.1:c.2228T>A	p.Leu743Ter	p.L743*	ENST00000597505		743	tTa/tAa	0	1	1	UPI0002A47319	0		ENST00000597505		ENSG00000170959	20625		54			HGNC	p.L743X		DCDC1		SNV							ENST00000597505	protein_coding			PROSITE_profiles:PS50231,Superfamily_domains:SSF50370		L/*		T		2228/5352				M0R2J8_HUMAN				DCDC1,stop_gained,p.Leu743Ter,ENST00000597505,;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,3_prime_UTR_variant,,ENST00000342355,;							HIGH	2228/5352					Transcript			.	ENSP00000472625					1	
HIVEP3	0	LGGM	GRCh37	1	42046252	42046252	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	42	21	.	.	ENST00000372583.1:c.4217A>T	p.Lys1406Ile	p.K1406I	ENST00000372583	NM_024503.4	1406	aAa/aTa	0	1		UPI000013CC24	0	NA	ENST00000247584		ENSG00000127124	13561		63	1.79		HGNC	p.K1406I		HIVEP3		SNV							ENST00000372584	protein_coding	getma.org/?cm=var&var=hg19,1,42046252,T,A&fts=all		hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233		K/I		A	low	5023/8465		getma.org/?cm=msa&ty=f&p=ZEP3_HUMAN&rb=1311&re=1589&var=K1406I						HIVEP3,missense_variant,p.Lys1406Ile,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Lys1406Ile,ENST00000372583,NM_024503.4;HIVEP3,missense_variant,p.Lys1406Ile,ENST00000247584,;HIVEP3,missense_variant,p.Lys1406Ile,ENST00000429157,;HIVEP3,upstream_gene_variant,,ENST00000460604,;							MODERATE	4217/7221	K1406I	ZEP3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000247584		CCDS463.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73161455	73161455	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	39	21	.	.	ENST00000286657.4:c.2639T>A	p.Met880Lys	p.M880K	ENST00000286657	NM_014243.2	880	aTg/aAg	0	1	1	UPI00001AEAEA	0	NA	ENST00000286657		ENSG00000156140	219		60	2.215		HGNC	p.M880K		ADAMTS3		SNV							ENST00000286657	protein_coding	getma.org/?cm=var&var=hg19,4,73161455,A,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		M/K		T	medium	2676/5822		getma.org/?cm=msa&ty=f&p=ATS3_HUMAN&rb=850&re=904&var=M880K	deleterious(0)	Q96AY5_HUMAN			YES	ADAMTS3,missense_variant,p.Met880Lys,ENST00000286657,NM_014243.2;ADAMTS3,downstream_gene_variant,,ENST00000511274,;							MODERATE	2639/3618	M880K	ATS3_HUMAN			Transcript		benign(0.223)	.	ENSP00000286657		CCDS3553.1			1	
NMT1	0	LGGM	GRCh37	17	43181088	43181088	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	22	.	.	ENST00000592782.1:c.1176A>G	p.Gly392=	p.G392=	ENST00000592782		392	ggA/ggG	0	1		UPI0000130275	0		ENST00000258960		ENSG00000136448	7857		65			HGNC	p.G392G		NMT1		SNV							ENST00000258960	protein_coding			Gene3D:3.40.630.30,Pfam_domain:PF02799,PIRSF_domain:PIRSF015892,hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF7,Superfamily_domains:SSF55729		G		G		1194/4879				Q9Y465_HUMAN,Q96HI4_HUMAN,K7EN82_HUMAN				NMT1,synonymous_variant,p.=,ENST00000592782,;NMT1,synonymous_variant,p.=,ENST00000258960,NM_021079.3;NMT1,upstream_gene_variant,,ENST00000587120,;NMT1,upstream_gene_variant,,ENST00000587670,;NMT1,non_coding_transcript_exon_variant,,ENST00000587014,;NMT1,downstream_gene_variant,,ENST00000543908,;NMT1,upstream_gene_variant,,ENST00000591931,;NMT1,downstream_gene_variant,,ENST00000590310,;NMT1,downstream_gene_variant,,ENST00000588455,;							LOW	1176/1491		NMT1_HUMAN			Transcript			.	ENSP00000258960		CCDS11494.1			1	
BDKRB2	0	LGGM	GRCh37	14	96707040	96707040	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	32	22	.	.	ENST00000306005.3:c.375T>A	p.Phe125Leu	p.F125L	ENST00000306005	NM_000623.3	125	ttT/ttA	0	1		UPI00000503EB	0	getma.org/pdb.php?prot=BKRB2_HUMAN&from=74&to=332&var=F125L	ENST00000554311		ENSG00000168398	1030		54	2.05		HGNC	p.F98L		BDKRB2		SNV							ENST00000542454	protein_coding	getma.org/?cm=var&var=hg19,14,96707040,T,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF25,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		F/L		A	medium	579/4040		getma.org/?cm=msa&ty=f&p=BKRB2_HUMAN&rb=74&re=332&var=F125L	deleterious(0.03)					BDKRB2,missense_variant,p.Phe98Leu,ENST00000542454,;BDKRB2,missense_variant,p.Phe125Leu,ENST00000306005,NM_000623.3;BDKRB2,missense_variant,p.Phe125Leu,ENST00000554311,;BDKRB2,missense_variant,p.Phe98Leu,ENST00000539359,;RP11-404P21.8,intron_variant,,ENST00000553811,;RP11-404P21.8,upstream_gene_variant,,ENST00000555847,;							MODERATE	375/1176	F125L	BKRB2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000450482		CCDS9942.1			1	
MCC	0	LGGM	GRCh37	5	112420863	112420863	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	36	22	.	.	ENST00000408903.3:c.1543A>T	p.Lys515Ter	p.K515*	ENST00000408903	NM_001085377.1	515	Aag/Tag	0	1		UPI000013E7E1	0	NA	ENST00000302475		ENSG00000171444	6935		58	0		HGNC	p.K325X		MCC		SNV							ENST00000302475	protein_coding	getma.org/?cm=var&var=hg19,5,112420863,T,A&fts=all		hmmpanther:PTHR23347:SF4,hmmpanther:PTHR23347		K/*		A	NA	1537/8257		NA		D6REY2_HUMAN				MCC,stop_gained,p.Lys325Ter,ENST00000302475,NM_002387.2;MCC,stop_gained,p.Lys262Ter,ENST00000515367,;MCC,stop_gained,p.Lys515Ter,ENST00000408903,NM_001085377.1;MCC,splice_region_variant,,ENST00000514701,;							HIGH	973/2490	K325*	CRCM_HUMAN			Transcript			.	ENSP00000305617		CCDS4111.1			1	
CCDC129	0	LGGM	GRCh37	7	31692275	31692275	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	22	.	.	ENST00000451887.2:c.3045T>A	p.Asp1015Glu	p.D1015E	ENST00000451887	NM_001257968.1	1015	gaT/gaA	0	1		UPI00015A2549	0	NA	ENST00000407970		ENSG00000180347	27363		56	1.79		HGNC	p.D1015E		CCDC129		SNV							ENST00000451887	protein_coding	getma.org/?cm=var&var=hg19,7,31692275,T,A&fts=all		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12		D/E		A	low	3005/3269		getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=D989E	tolerated(0.33)	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN				CCDC129,missense_variant,p.Asp841Glu,ENST00000319386,;CCDC129,missense_variant,p.Asp897Glu,ENST00000409210,;CCDC129,missense_variant,p.Asp1015Glu,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Asp989Glu,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,non_coding_transcript_exon_variant,,ENST00000463693,;							MODERATE	2967/3135	D989E	CC129_HUMAN			Transcript		benign(0.048)	.	ENSP00000384416		CCDS5435.2			1	
OR2AG1	0	LGGM	GRCh37	11	6806480	6806480	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	23	.	.	ENST00000307401.4:c.212T>A	p.Leu71His	p.L71H	ENST00000307401	NM_001004489.2	71	cTc/cAc	0	1	1	UPI00000015AF	0	getma.org/pdb.php?prot=O2AG1_HUMAN&from=1&to=138&var=L71H	ENST00000307401		ENSG00000170803	15142		69	3.52		HGNC	p.L71H		OR2AG1		SNV							ENST00000307401	protein_coding	getma.org/?cm=var&var=hg19,11,6806480,T,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183,PROSITE_profiles:PS50262		L/H		A	high	233/998		getma.org/?cm=msa&ty=f&p=O2AG1_HUMAN&rb=1&re=138&var=L71H	deleterious(0)				YES	OR2AG1,missense_variant,p.Leu71His,ENST00000307401,NM_001004489.2;							MODERATE	212/951	L71H	O2AG1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000307447		CCDS31414.1			1	
HAS1	0	LGGM	GRCh37	19	52220250	52220250	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	30	23	.	.	ENST00000222115.1:c.899A>T	p.His300Leu	p.H300L	ENST00000222115	NM_001523.2	300	cAc/cTc	0	1	1	UPI000006D531	0	NA	ENST00000222115		ENSG00000105509	4818		53	0.345		HGNC	p.H299L		HAS1		SNV							ENST00000540069	protein_coding	getma.org/?cm=var&var=hg19,19,52220250,T,A&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF13641,hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF4,Superfamily_domains:SSF53448		H/L		A	neutral	934/2087		getma.org/?cm=msa&ty=f&p=HAS1_HUMAN&rb=181&re=382&var=H300L	deleterious(0.03)	Q4VHE4_HUMAN			YES	HAS1,missense_variant,p.His299Leu,ENST00000540069,;HAS1,missense_variant,p.His300Leu,ENST00000222115,NM_001523.2;HAS1,missense_variant,p.His307Leu,ENST00000601714,;HAS1,missense_variant,p.His154Leu,ENST00000594621,;HAS1,missense_variant,p.His86Leu,ENST00000601667,;SPACA6P,downstream_gene_variant,,ENST00000573896,;							MODERATE	899/1737	H300L	HYAS1_HUMAN			Transcript		benign(0.139)	.	ENSP00000222115		CCDS12838.1			1	
OR5L2	0	LGGM	GRCh37	11	55595388	55595388	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	38	23	.	.	ENST00000378397.1:c.694G>A	p.Glu232Lys	p.E232K	ENST00000378397	NM_001004739.1	232	Gag/Aag	0	1	1	UPI0000041C49	0	NA	ENST00000378397		ENSG00000205030	8351		61	1.17		HGNC	p.E232K		OR5L2		SNV							ENST00000378397	protein_coding	getma.org/?cm=var&var=hg19,11,55595388,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321		E/K		A	low	694/936		getma.org/?cm=msa&ty=f&p=OR5L2_HUMAN&rb=139&re=283&var=E232K	tolerated(0.07)				YES	OR5L2,missense_variant,p.Glu232Lys,ENST00000378397,NM_001004739.1;							MODERATE	694/936	E232K	OR5L2_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000367650		CCDS31511.1			1	
STOX1	0	LGGM	GRCh37	10	70644338	70644338	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	14	24	.	.	ENST00000298596.6:c.786A>G	p.Ala262=	p.A262=	ENST00000298596	NM_152709.4	262	gcA/gcG	0	1	1	UPI00004B59B0	0		ENST00000298596		ENSG00000165730	23508		38			HGNC	p.A262A	rs770861179	STOX1		SNV			1				ENST00000399169	protein_coding			hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF1		A		G		869/3377	1.52E-05			C9JRL1_HUMAN			YES	STOX1,synonymous_variant,p.=,ENST00000298596,NM_152709.4;STOX1,synonymous_variant,p.=,ENST00000399169,NM_001130161.2;STOX1,synonymous_variant,p.=,ENST00000421961,NM_001130162.2;STOX1,intron_variant,,ENST00000399165,NM_001130159.2;STOX1,intron_variant,,ENST00000399162,NM_001130160.2;							LOW	786/2970		STOX1_HUMAN	0.000151		Transcript			.	ENSP00000298596	1.65E-05	CCDS41535.1			1	
CCDC18	0	LGGM	GRCh37	1	93712481	93712481	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	24	.	.	ENST00000370276.1:c.3326A>T	p.Ser1109=	p.S1109=	ENST00000370276		1109	tcA/tcT	0	1		UPI0000470B9C	0		ENST00000343253		ENSG00000122483	30370		61			HGNC	p.S1174S		CCDC18		SNV							ENST00000557479	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF4		S		T		3667/4867								CCDC18,synonymous_variant,p.=,ENST00000343253,;CCDC18,synonymous_variant,p.=,ENST00000370276,;CCDC18,synonymous_variant,p.=,ENST00000557479,NM_206886.3;CCDC18,synonymous_variant,p.=,ENST00000401026,;CCDC18,3_prime_UTR_variant,,ENST00000334652,;CCDC18,3_prime_UTR_variant,,ENST00000338949,;CCDC18,downstream_gene_variant,,ENST00000455267,;							LOW	3165/4365		CCD18_HUMAN			Transcript			.	ENSP00000343377					1	
NF1	0	LGGM	GRCh37	17	29553662	29553662	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	24	.	.	ENST00000358273.4:c.2211A>T	p.Thr737=	p.T737=	ENST00000358273	NM_001042492.2	737	acA/acT	0	1	1	UPI000012FFAE	0		ENST00000358273		ENSG00000196712	7765		58			HGNC	p.T403T		NF1		SNV			1				ENST00000456735	protein_coding			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		T		T		2594/12425				Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	NF1,synonymous_variant,p.=,ENST00000358273,NM_001042492.2;NF1,synonymous_variant,p.=,ENST00000356175,NM_000267.3;NF1,synonymous_variant,p.=,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000431387,NM_001128147.2;NF1,synonymous_variant,p.=,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;							LOW	2211/8520		NF1_HUMAN			Transcript			.	ENSP00000351015		CCDS42292.1			1	
CCDC39	0	LGGM	GRCh37	3	180334728	180334728	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	31	24	.	.	ENST00000442201.2:c.2292A>G	p.Ile764Met	p.I764M	ENST00000442201	NM_181426.1	764	atA/atG	0	1	1	UPI00015D7298	0	NA	ENST00000442201		ENSG00000145075	25244		55	1.115		HGNC	p.I764M		CCDC39		SNV			1				ENST00000442201	protein_coding	getma.org/?cm=var&var=hg19,3,180334728,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962		I/M		C	low	2412/3279		getma.org/?cm=msa&ty=f&p=CCD39_HUMAN&rb=510&re=940&var=I764M	tolerated(0.17)				YES	CCDC39,missense_variant,p.Ile764Met,ENST00000442201,NM_181426.1;CCDC39,3_prime_UTR_variant,,ENST00000273654,;TTC14,intron_variant,,ENST00000382584,NM_001288582.1;CCDC39,upstream_gene_variant,,ENST00000489868,;CCDC39,upstream_gene_variant,,ENST00000473854,;CCDC39,3_prime_UTR_variant,,ENST00000476379,;							MODERATE	2292/2826	I764M	CCD39_HUMAN			Transcript		benign(0.015)	.	ENSP00000405708		CCDS46964.1			1	
SNCAIP	0	LGGM	GRCh37	5	121761069	121761069	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	50	24	.	.	ENST00000261368.8:c.1025T>A	p.Leu342Gln	p.L342Q	ENST00000261368	NM_005460.2	342	cTa/cAa	0	1	1	UPI000006D872	0	getma.org/pdb.php?prot=SNCAP_HUMAN&from=322&to=415&var=L342Q	ENST00000261368		ENSG00000064692	11139		74	2.005		HGNC	p.L389Q		SNCAIP		SNV			1				ENST00000379533	protein_coding	getma.org/?cm=var&var=hg19,5,121761069,T,A&fts=all		Superfamily_domains:SSF48403,Pfam_domain:PF12796,hmmpanther:PTHR22882		L/Q		A	medium	1287/3745		getma.org/?cm=msa&ty=f&p=SNCAP_HUMAN&rb=322&re=415&var=L342Q	deleterious(0.01)	D6RD29_HUMAN,D6RBR2_HUMAN,B7Z616_HUMAN			YES	SNCAIP,missense_variant,p.Leu389Gln,ENST00000261367,;SNCAIP,missense_variant,p.Leu389Gln,ENST00000379533,;SNCAIP,missense_variant,p.Leu342Gln,ENST00000261368,NM_005460.2;SNCAIP,missense_variant,p.Leu389Gln,ENST00000503116,;SNCAIP,synonymous_variant,p.=,ENST00000504884,;SNCAIP,intron_variant,,ENST00000379536,;SNCAIP,intron_variant,,ENST00000509154,;SNCAIP,intron_variant,,ENST00000379538,NM_001242935.1;SNCAIP,intron_variant,,ENST00000542191,;SNCAIP,intron_variant,,ENST00000414317,;SNCAIP,downstream_gene_variant,,ENST00000514467,;SNCAIP,downstream_gene_variant,,ENST00000506272,;SNCAIP,downstream_gene_variant,,ENST00000508681,;SNCAIP,missense_variant,p.Leu389Gln,ENST00000395469,;SNCAIP,synonymous_variant,p.=,ENST00000395466,;SNCAIP,non_coding_transcript_exon_variant,,ENST00000510003,;SNCAIP,intron_variant,,ENST00000512385,;SNCAIP,intron_variant,,ENST00000508017,;SNCAIP,intron_variant,,ENST00000510658,;SNCAIP,intron_variant,,ENST00000509023,;SNCAIP,intron_variant,,ENST00000512146,;SNCAIP,intron_variant,,ENST00000515215,;							MODERATE	1025/2760	L342Q	SNCAP_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000261368		CCDS4131.1			1	
OR4C3	0	LGGM	GRCh37	11	48347378	48347378	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	44	24	.	.	ENST00000319856.4:c.886A>T	p.Met296Leu	p.M296L	ENST00000319856	NM_001004702.1	296	Atg/Ttg	0	1	1	UPI0000061EA2	0	NA	ENST00000319856		ENSG00000176547	14697		68	-0.545		HGNC	p.M296L		OR4C3		SNV							ENST00000319856	protein_coding	getma.org/?cm=var&var=hg19,11,48347378,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321		M/L		T	neutral	907/1036		getma.org/?cm=msa&ty=f&p=OR4C3_HUMAN&rb=137&re=278&var=M269L	tolerated(0.14)				YES	OR4C3,missense_variant,p.Met296Leu,ENST00000319856,NM_001004702.1;							MODERATE	886/990	M269L	OR4C3_HUMAN			Transcript		benign(0.019)	.	ENSP00000321419		CCDS31489.1			1	
MPHOSPH9	0	LGGM	GRCh37	12	123702973	123702973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	25	.	.	ENST00000392425.3:c.490T>A	p.Ser164Thr	p.S164T	ENST00000392425		164	Tca/Aca	0	1		UPI00001FB90F	0	NA	ENST00000606320		ENSG00000051825	7215		62	2.045		HGNC	p.S164T		MPHOSPH9		SNV							ENST00000392425	protein_coding	getma.org/?cm=var&var=hg19,12,123702973,A,T&fts=all		hmmpanther:PTHR14926:SF1,hmmpanther:PTHR14926		S/T		T	medium	1153/6351		getma.org/?cm=msa&ty=f&p=MPP9_HUMAN&rb=39&re=1029&var=S164T	tolerated(0.41)	U3KQ28_HUMAN,F5H1W2_HUMAN,F5GZJ0_HUMAN				MPHOSPH9,missense_variant,p.Ser316Thr,ENST00000606320,NM_022782.3;MPHOSPH9,missense_variant,p.Ser286Thr,ENST00000541076,;MPHOSPH9,missense_variant,p.Ser164Thr,ENST00000392425,;MPHOSPH9,missense_variant,p.Ser164Thr,ENST00000302349,;MPHOSPH9,missense_variant,p.Ser173Thr,ENST00000539336,;MPHOSPH9,downstream_gene_variant,,ENST00000541437,;MPHOSPH9,downstream_gene_variant,,ENST00000537854,;MPHOSPH9,downstream_gene_variant,,ENST00000539639,;MPHOSPH9,downstream_gene_variant,,ENST00000538169,;MPHOSPH9,missense_variant,p.Ser19Thr,ENST00000539024,;MPHOSPH9,missense_variant,p.Ser184Thr,ENST00000302373,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,downstream_gene_variant,,ENST00000535049,;							MODERATE	946/3552	S164T				Transcript		benign(0.356)	.	ENSP00000475489		CCDS9243.2			1	
ZSWIM7	0	LGGM	GRCh37	17	15881402	15881402	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	28	25	.	.	ENST00000399277.1:c.382T>G	p.Leu128Val	p.L128V	ENST00000399277	NM_001042697.1	128	Ttg/Gtg	0	1	1	UPI0000161153	0	NA	ENST00000399277		ENSG00000214941	26993		53	2.025		HGNC	p.L128V		ZSWIM7		SNV							ENST00000399277	protein_coding	getma.org/?cm=var&var=hg19,17,15881402,A,C&fts=all				L/V		C	medium	480/2008		getma.org/?cm=msa&ty=f&p=ZSWM7_HUMAN&rb=84&re=140&var=L128V	tolerated(0.05)				YES	ZSWIM7,missense_variant,p.Leu128Val,ENST00000399277,NM_001042697.1,NM_001042698.1;ZSWIM7,missense_variant,p.Leu128Val,ENST00000472495,;ZSWIM7,3_prime_UTR_variant,,ENST00000486655,;ADORA2B,downstream_gene_variant,,ENST00000304222,NM_000676.2;ZSWIM7,non_coding_transcript_exon_variant,,ENST00000399280,;ZSWIM7,non_coding_transcript_exon_variant,,ENST00000497434,;ZSWIM7,non_coding_transcript_exon_variant,,ENST00000497719,;ZSWIM7,non_coding_transcript_exon_variant,,ENST00000495825,;ZSWIM7,non_coding_transcript_exon_variant,,ENST00000475498,;ZSWIM7,3_prime_UTR_variant,,ENST00000490395,;ZSWIM7,3_prime_UTR_variant,,ENST00000585208,;ZSWIM7,3_prime_UTR_variant,,ENST00000476496,;ZSWIM7,3_prime_UTR_variant,,ENST00000486706,;ZSWIM7,3_prime_UTR_variant,,ENST00000491631,;ZSWIM7,3_prime_UTR_variant,,ENST00000460315,;ZSWIM7,3_prime_UTR_variant,,ENST00000460252,;ZSWIM7,3_prime_UTR_variant,,ENST00000584519,;ZSWIM7,3_prime_UTR_variant,,ENST00000474716,;ZSWIM7,3_prime_UTR_variant,,ENST00000579955,;ADORA2B,downstream_gene_variant,,ENST00000582124,;							MODERATE	382/423	L128V	ZSWM7_HUMAN			Transcript		benign(0.411)	.	ENSP00000382218		CCDS42266.1			1	
C18orf54	0	LGGM	GRCh37	18	51887198	51887198	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	40	26	.	.	ENST00000300091.5:c.256T>C	p.Cys86Arg	p.C86R	ENST00000300091	NM_173529.4	86	Tgc/Cgc	0	1	1	UPI0000074279	0	NA	ENST00000300091		ENSG00000166845	13796		66	0.755		HGNC	p.C86R		C18orf54		SNV							ENST00000382911	protein_coding	getma.org/?cm=var&var=hg19,18,51887198,T,C&fts=all				C/R		C	neutral	588/5237		getma.org/?cm=msa&ty=f&p=LAS2_HUMAN&rb=1&re=200&var=C86R	deleterious(0)	J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN			YES	C18orf54,missense_variant,p.Cys86Arg,ENST00000300091,NM_173529.4;C18orf54,missense_variant,p.Cys86Arg,ENST00000382911,;C18orf54,intron_variant,,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000577499,;STARD6,upstream_gene_variant,,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000582188,;							MODERATE	256/1119	C86R	LAS2_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000300091		CCDS11956.1			1	
PEX7	0	LGGM	GRCh37	6	137147531	137147531	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	40	27	.	.	ENST00000318471.4:c.263G>A	p.Gly88Asp	p.G88D	ENST00000318471	NM_000288.3	88	gGc/gAc	0	1	1	UPI00001316F3	0	NA	ENST00000318471		ENSG00000112357	8860		67	1.555		HGNC	p.G88D		PEX7		SNV			1				ENST00000541292	protein_coding	getma.org/?cm=var&var=hg19,6,137147531,G,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22850:SF98,hmmpanther:PTHR22850,PROSITE_patterns:PS00678,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320		G/D		A	low	344/1464		getma.org/?cm=msa&ty=f&p=PEX7_HUMAN&rb=62&re=96&var=G88D	deleterious(0)	Q6FGN1_HUMAN			YES	PEX7,missense_variant,p.Gly88Asp,ENST00000541292,;PEX7,missense_variant,p.Gly88Asp,ENST00000318471,NM_000288.3;PEX7,missense_variant,p.Gly88Asp,ENST00000367756,;							MODERATE	263/972	G88D	PEX7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315680		CCDS5180.1			1	
PLA2G7	0	LGGM	GRCh37	6	46690550	46690550	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	35	27	.	.	ENST00000274793.7:c.79A>T	p.Ile27Leu	p.I27L	ENST00000274793	NM_005084.3	27	Ata/Tta	0	1	1	UPI000002FED1	0	NA	ENST00000274793		ENSG00000146070	9040		62	-0.805		HGNC	p.I27L		PLA2G7		SNV			1				ENST00000537365	protein_coding	getma.org/?cm=var&var=hg19,6,46690550,T,A&fts=all		hmmpanther:PTHR10272,hmmpanther:PTHR10272:SF9,PIRSF_domain:PIRSF018169		I/L		A	neutral	276/1882		getma.org/?cm=msa&ty=f&p=PAFA_HUMAN&rb=1&re=47&var=I27L	tolerated(0.98)				YES	PLA2G7,missense_variant,p.Ile27Leu,ENST00000274793,NM_005084.3;PLA2G7,missense_variant,p.Ile27Leu,ENST00000537365,NM_001168357.1;PLA2G7,intron_variant,,ENST00000538237,;PLA2G7,intron_variant,,ENST00000541026,;							MODERATE	79/1326	I27L	PAFA_HUMAN			Transcript		benign(0)	.	ENSP00000274793		CCDS4917.1			1	
PODN	0	LGGM	GRCh37	1	53543471	53543471	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	25	28	.	.	ENST00000312553.5:c.997T>A	p.Trp333Arg	p.W333R	ENST00000312553	NM_001199081.1	333	Tgg/Agg	0	1	1	UPI000034ECE9	0	getma.org/pdb.php?prot=PODN_HUMAN&from=238&to=300&var=W285R	ENST00000312553		ENSG00000174348	23174		53	0.07		HGNC	p.W191R		PODN		SNV							ENST00000395871	protein_coding	getma.org/?cm=var&var=hg19,1,53543471,T,A&fts=all		hmmpanther:PTHR24369:SF12,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058		W/R		A	neutral	1004/3010		getma.org/?cm=msa&ty=f&p=PODN_HUMAN&rb=238&re=300&var=W285R	tolerated(0.69)				YES	PODN,missense_variant,p.Trp314Arg,ENST00000371500,NM_001199080.1;PODN,missense_variant,p.Trp333Arg,ENST00000312553,NM_001199081.1,NM_153703.4;PODN,missense_variant,p.Trp191Arg,ENST00000395871,NM_001199082.1;RP11-334A14.5,intron_variant,,ENST00000447867,;PODN,downstream_gene_variant,,ENST00000471210,;PODN,upstream_gene_variant,,ENST00000471285,;PODN,upstream_gene_variant,,ENST00000490650,;HIGD1AP11,upstream_gene_variant,,ENST00000438361,;							MODERATE	997/1986	W285R	PODN_HUMAN			Transcript		benign(0.02)	.	ENSP00000308315		CCDS573.1			1	
HSPG2	0	LGGM	GRCh37	1	22222781	22222781	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	55	29	.	.	ENST00000374695.3:c.86A>T	p.Tyr29Phe	p.Y29F	ENST00000374695	NM_005529.5	29	tAc/tTc	0	1	1	UPI0000212778	0	NA	ENST00000374695		ENSG00000142798	5273		84	0.695		HGNC	p.Y29F		HSPG2		SNV			1				ENST00000374695	protein_coding	getma.org/?cm=var&var=hg19,1,22222781,T,A&fts=all				Y/F		A	neutral	166/14327		getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=1&re=196&var=Y29F		B6EU51_HUMAN			YES	HSPG2,missense_variant,p.Tyr29Phe,ENST00000374695,NM_005529.5;HSPG2,missense_variant,p.Tyr8Phe,ENST00000412328,;HSPG2,upstream_gene_variant,,ENST00000439717,;							MODERATE	86/13176	Y29F	PGBM_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000363827		CCDS30625.1			1	
FBN2	0	LGGM	GRCh37	5	127611814	127611814	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	26	30	.	.	ENST00000508053.1:c.7510T>A	p.Tyr2504Asn	p.Y2504N	ENST00000508053		2504	Tac/Aac	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=2491&to=2530&var=Y2504N	ENST00000262464		ENSG00000138829	3604		56	0.84		HGNC	p.Y2504N		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127611814,A,T&fts=all		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		Y/N		T	low	7949/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=2491&re=2530&var=Y2504N	deleterious(0.01)					FBN2,missense_variant,p.Tyr2504Asn,ENST00000508053,;FBN2,missense_variant,p.Tyr2504Asn,ENST00000262464,NM_001999.3;							MODERATE	7510/8739	Y2504N	FBN2_HUMAN			Transcript		benign(0.014)	.	ENSP00000262464		CCDS34222.1			1	
KRT39	0	LGGM	GRCh37	17	39122916	39122916	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	58	30	.	.	ENST00000355612.2:c.193T>A	p.Phe65Ile	p.F65I	ENST00000355612	NM_213656.3	65	Ttt/Att	0	1	1	UPI0000237913	0	NA	ENST00000355612		ENSG00000196859	32971		88	1.355		HGNC	p.F65I		KRT39		SNV							ENST00000355612	protein_coding	getma.org/?cm=var&var=hg19,17,39122916,A,T&fts=all		hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239		F/I		T	low	229/1696		getma.org/?cm=msa&ty=f&p=K1C39_HUMAN&rb=1&re=94&var=F65I	tolerated(0.39)	J3QRE9_HUMAN			YES	KRT39,missense_variant,p.Phe65Ile,ENST00000355612,NM_213656.3;AC004231.2,intron_variant,,ENST00000418393,;KRT39,missense_variant,p.Phe65Ile,ENST00000578078,;							MODERATE	193/1476	F65I	K1C39_HUMAN			Transcript		benign(0.002)	.	ENSP00000347823		CCDS11382.1			1	
DNAH9	0	LGGM	GRCh37	17	11774984	11774984	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	30	.	.	ENST00000262442.4:c.10123A>T	p.Thr3375Ser	p.T3375S	ENST00000262442	NM_001372.3	3375	Acg/Tcg	0	1	1	UPI0000141BA2	0	getma.org/pdb.php?prot=DYH9_HUMAN&from=3067&to=3410&var=T3375S	ENST00000262442		ENSG00000007174	2953		73	2.345		HGNC	p.T3375S		DNAH9		SNV							ENST00000454412	protein_coding	getma.org/?cm=var&var=hg19,17,11774984,A,T&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF12777		T/S		T	medium	10191/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=3067&re=3410&var=T3375S		Q92865_HUMAN			YES	DNAH9,missense_variant,p.Thr3375Ser,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Thr3375Ser,ENST00000454412,;DNAH9,intron_variant,,ENST00000579703,;RP11-628O18.1,downstream_gene_variant,,ENST00000579621,;DNAH9,upstream_gene_variant,,ENST00000580255,;DNAH9,downstream_gene_variant,,ENST00000578834,;							MODERATE	10123/13461	T3375S	DYH9_HUMAN			Transcript		benign(0.37)	.	ENSP00000262442		CCDS11160.1			1	
DNAJC5B	0	LGGM	GRCh37	8	66963878	66963878	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	55	30	.	.	ENST00000276570.5:c.96T>C	p.Asn32=	p.N32=	ENST00000276570	NM_033105.4	32	aaT/aaC	0	1	1	UPI0000050F10	0		ENST00000276570		ENSG00000147570	24138	0.000346	85			HGNC	p.N32N	rs751142330	DNAJC5B		SNV							ENST00000522619	protein_coding			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		N		C		383/1372				E5RGF4_HUMAN			YES	DNAJC5B,synonymous_variant,p.=,ENST00000276570,NM_033105.4;DNAJC5B,synonymous_variant,p.=,ENST00000522619,;DNAJC5B,non_coding_transcript_exon_variant,,ENST00000519330,;DNAJC5B,intron_variant,,ENST00000524076,;							LOW	96/600		DNJ5B_HUMAN			Transcript			.	ENSP00000276570	3.29E-05	CCDS6183.1			1	
TMEM67	0	LGGM	GRCh37	8	94792938	94792938	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	45	31	.	.	ENST00000453321.3:c.832A>T	p.Thr278Ser	p.T278S	ENST00000453321	NM_153704.5	278	Act/Tct	0	1	1	UPI0000D624E9	0	NA	ENST00000453321		ENSG00000164953	28396		76	0.955		HGNC	p.T268S		TMEM67		SNV			1				ENST00000323130	protein_coding	getma.org/?cm=var&var=hg19,8,94792938,A,T&fts=all		Pfam_domain:PF09773,hmmpanther:PTHR21274,hmmpanther:PTHR21274:SF0		T/S		T	low	890/4651		getma.org/?cm=msa&ty=f&p=MKS3_HUMAN&rb=163&re=995&var=T278S	tolerated(0.16)	E5RG10_HUMAN,C9JRQ8_HUMAN			YES	TMEM67,missense_variant,p.Thr278Ser,ENST00000453321,NM_153704.5;TMEM67,missense_variant,p.Thr197Ser,ENST00000409623,NM_001142301.1;TMEM67,missense_variant,p.Thr175Ser,ENST00000452276,;TMEM67,intron_variant,,ENST00000453906,;TMEM67,upstream_gene_variant,,ENST00000520680,;TMEM67,non_coding_transcript_exon_variant,,ENST00000425545,;TMEM67,upstream_gene_variant,,ENST00000520634,;TMEM67,missense_variant,p.Thr268Ser,ENST00000323130,;TMEM67,non_coding_transcript_exon_variant,,ENST00000496213,;TMEM67,intron_variant,,ENST00000474944,;							MODERATE	832/2988	T278S	MKS3_HUMAN			Transcript		possibly_damaging(0.732)	.	ENSP00000389998		CCDS6258.2			1	
KNTC1	0	LGGM	GRCh37	12	123067433	123067433	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	34	31	.	.	ENST00000333479.7:c.3164A>T	p.Gln1055Leu	p.Q1055L	ENST00000333479	NM_014708.4	1055	cAg/cTg	0	1	1	UPI0000047FD6	0	NA	ENST00000333479		ENSG00000184445	17255		65	0.915		HGNC	p.Q1055L		KNTC1		SNV							ENST00000333479	protein_coding	getma.org/?cm=var&var=hg19,12,123067433,A,T&fts=all		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688		Q/L		T	low	3341/6975		getma.org/?cm=msa&ty=f&p=KNTC1_HUMAN&rb=1001&re=1200&var=Q1055L	tolerated(1)	J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,missense_variant,p.Gln1055Leu,ENST00000333479,NM_014708.4;KNTC1,intron_variant,,ENST00000450485,;							MODERATE	3164/6630	Q1055L	KNTC1_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000328236		CCDS45002.1			1	
SLC2A5	0	LGGM	GRCh37	1	9107705	9107705	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	37	31	.	.	ENST00000377424.4:c.382A>T	p.Ile128Phe	p.I128F	ENST00000377424	NM_003039.2	128	Atc/Ttc	0	1	1	UPI00000532AC	0	NA	ENST00000377424		ENSG00000142583	11010		68	2.26		HGNC	p.I128F		SLC2A5		SNV							ENST00000484798	protein_coding	getma.org/?cm=var&var=hg19,1,9107705,T,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF309,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00879,Transmembrane_helices:TMhelix		I/F		A	medium	562/4165		getma.org/?cm=msa&ty=f&p=GTR5_HUMAN&rb=20&re=475&var=I128F	deleterious(0.02)	K7EQI3_HUMAN,K7EJZ0_HUMAN,K7EJR1_HUMAN,K7EIT1_HUMAN,B4DXN5_HUMAN,B4DT82_HUMAN			YES	SLC2A5,missense_variant,p.Ile128Phe,ENST00000377424,NM_003039.2;SLC2A5,missense_variant,p.Ile128Phe,ENST00000377414,NM_001135585.1;SLC2A5,missense_variant,p.Ile69Phe,ENST00000536305,;SLC2A5,missense_variant,p.Ile13Phe,ENST00000535586,;SLC2A5,missense_variant,p.Ile128Phe,ENST00000486632,;SLC2A5,missense_variant,p.Ile128Phe,ENST00000474145,;SLC2A5,missense_variant,p.Ile128Phe,ENST00000479813,;SLC2A5,missense_variant,p.Ile128Phe,ENST00000487835,;SLC2A5,missense_variant,p.Ile128Phe,ENST00000484798,;SLC2A5,missense_variant,p.Ile128Phe,ENST00000464985,;							MODERATE	382/1506	I128F	GTR5_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000366641		CCDS99.1			1	
KMT2A	0	LGGM	GRCh37	11	118380731	118380731	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	36	32	.	.	ENST00000534358.1:c.10969C>T	p.Gln3657Ter	p.Q3657*	ENST00000534358	NM_005933.3	3657	Caa/Taa	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		68	0		HGNC	p.Q3616X		KMT2A		SNV			1				ENST00000354520	protein_coding	getma.org/?cm=var&var=hg19,11,118380731,C,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		Q/*		T	NA	10960/13655		NA		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,stop_gained,p.Gln3657Ter,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,stop_gained,p.Gln3616Ter,ENST00000354520,;KMT2A,stop_gained,p.Gln3654Ter,ENST00000389506,;RP11-770J1.3,downstream_gene_variant,,ENST00000532597,;KMT2A,non_coding_transcript_exon_variant,,ENST00000534678,;KMT2A,downstream_gene_variant,,ENST00000534085,;							HIGH	10960/11910	Q3654*	KMT2A_HUMAN			Transcript			.	ENSP00000374157		CCDS31686.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103004357	103004357	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	78	32	.	.	ENST00000398093.3:c.2027A>T	p.Gln676Leu	p.Q676L	ENST00000398093		676	cAa/cTa	0	1		UPI0000418CA2	0	NA	ENST00000375735		ENSG00000187240	2962		110	1.59		HGNC	p.Q676L		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,103004357,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		Q/L		T	low	2171/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=188&re=676&var=Q676L						DYNC2H1,missense_variant,p.Gln676Leu,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Gln676Leu,ENST00000398093,;DYNC2H1,missense_variant,p.Gln676Leu,ENST00000334267,;							MODERATE	2027/12924	Q676L	DYHC2_HUMAN			Transcript		benign(0.012)	.	ENSP00000364887		CCDS53701.1			1	
SERPINB7	0	LGGM	GRCh37	18	61465945	61465945	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	43	32	.	.	ENST00000398019.2:c.562A>T	p.Ser188Cys	p.S188C	ENST00000398019	NM_003784.3	188	Agc/Tgc	0	1		UPI0000135DAA	0	getma.org/pdb.php?prot=SPB7_HUMAN&from=6&to=380&var=S188C	ENST00000336429		ENSG00000166396	13902		75	3.325		HGNC	p.S188C		SERPINB7		SNV			1				ENST00000336429	protein_coding	getma.org/?cm=var&var=hg19,18,61465945,A,T&fts=all		hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		S/C		T	medium	658/1973		getma.org/?cm=msa&ty=f&p=SPB7_HUMAN&rb=6&re=380&var=S188C	deleterious(0.02)	Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN				SERPINB7,missense_variant,p.Ser188Cys,ENST00000398019,NM_003784.3;SERPINB7,missense_variant,p.Ser188Cys,ENST00000336429,NM_001040147.2;SERPINB7,missense_variant,p.Ser188Cys,ENST00000546027,NM_001261830.1;SERPINB7,missense_variant,p.Ser171Cys,ENST00000540675,NM_001261831.1;SERPINB7,downstream_gene_variant,,ENST00000425392,;SERPINB7,downstream_gene_variant,,ENST00000447428,;SERPINB7,downstream_gene_variant,,ENST00000431370,;							MODERATE	562/1143	S188C	SPB7_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000337212		CCDS11988.1			1	
ERN1	0	LGGM	GRCh37	17	62125240	62125240	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	52	34	.	.	ENST00000433197.3:c.2507A>T	p.Glu836Val	p.E836V	ENST00000433197	NM_001433.3	836	gAg/gTg	0	1	1	UPI0000201263	0	getma.org/pdb.php?prot=ERN1_HUMAN&from=835&to=963&var=E836V	ENST00000433197		ENSG00000178607	3449		86	2.33		HGNC	p.E836V		ERN1		SNV							ENST00000433197	protein_coding	getma.org/?cm=var&var=hg19,17,62125240,T,A&fts=all		PROSITE_profiles:PS51392,hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		E/V		A	medium	2603/7876		getma.org/?cm=msa&ty=f&p=ERN1_HUMAN&rb=835&re=963&var=E836V	tolerated(0.37)				YES	ERN1,missense_variant,p.Glu836Val,ENST00000433197,NM_001433.3;							MODERATE	2507/2934	E836V	ERN1_HUMAN			Transcript		benign(0.034)	.	ENSP00000401445		CCDS45762.1			1	
SLC22A14	0	LGGM	GRCh37	3	38347558	38347558	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	49	34	.	.	ENST00000273173.4:c.41A>T	p.Gln14Leu	p.Q14L	ENST00000273173	NM_004803.3	14	cAg/cTg	0	1	1	UPI00001AE9A8	0	NA	ENST00000273173		ENSG00000144671	8495		83	1.95		HGNC	p.Q14L		SLC22A14		SNV							ENST00000448498	protein_coding	getma.org/?cm=var&var=hg19,3,38347558,A,T&fts=all				Q/L		T	medium	132/2202		getma.org/?cm=msa&ty=f&p=S22AE_HUMAN&rb=1&re=154&var=Q14L	tolerated(0.06)	F5H7H1_HUMAN			YES	SLC22A14,missense_variant,p.Gln14Leu,ENST00000273173,NM_004803.3;SLC22A14,missense_variant,p.Gln14Leu,ENST00000448498,;SLC22A14,intron_variant,,ENST00000466887,;RNU6-235P,upstream_gene_variant,,ENST00000362644,;SLC22A14,non_coding_transcript_exon_variant,,ENST00000496724,;							MODERATE	41/1785	Q14L	S22AE_HUMAN			Transcript		benign(0.215)	.	ENSP00000273173		CCDS2677.1			1	
TRPC4AP	0	LGGM	GRCh37	20	33657119	33657119	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	35	35	.	.	ENST00000252015.2:c.394G>T	p.Asp132Tyr	p.D132Y	ENST00000252015		132	Gac/Tac	0	1	1	UPI000004FADD	0	NA	ENST00000252015		ENSG00000100991	16181		70	0.975		HGNC	p.D132Y		TRPC4AP		SNV							ENST00000451813	protein_coding	getma.org/?cm=var&var=hg19,20,33657119,C,A&fts=all		hmmpanther:PTHR31743,hmmpanther:PTHR31743:SF1,Superfamily_domains:SSF48371		D/Y		A	low	484/3226		getma.org/?cm=msa&ty=f&p=TP4AP_HUMAN&rb=1&re=200&var=D132Y	deleterious(0)				YES	TRPC4AP,missense_variant,p.Asp132Tyr,ENST00000252015,;TRPC4AP,missense_variant,p.Asp132Tyr,ENST00000451813,NM_015638.2,NM_199368.1;TRPC4AP,intron_variant,,ENST00000432634,;							MODERATE	394/2394	D132Y	TP4AP_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000252015		CCDS13246.1			1	
TAF1L	0	LGGM	GRCh37	9	32630467	32630467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	59	35	.	.	ENST00000242310.4:c.5111T>A	p.Met1704Lys	p.M1704K	ENST00000242310	NM_153809.2	1704	aTg/aAg	0	1	1	UPI000007408A	0	NA	ENST00000242310		ENSG00000122728	18056		94	0.345		HGNC	p.M1704K	rs748586498	TAF1L		SNV							ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32630467,A,T&fts=all		hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047		M/K		T	neutral	5201/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1615&re=1814&var=M1704K	tolerated_low_confidence(0.41)				YES	TAF1L,missense_variant,p.Met1704Lys,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							MODERATE	5111/5481	M1704K	TAF1L_HUMAN			Transcript		benign(0.001)	.	ENSP00000418379		CCDS35003.1			1	
COL12A1	0	LGGM	GRCh37	6	75865439	75865439	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	67	35	.	.	ENST00000322507.8:c.3382A>G	p.Arg1128Gly	p.R1128G	ENST00000322507	NM_004370.5	1128	Aga/Gga	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=1088&to=1168&var=R1128G	ENST00000322507		ENSG00000111799	2188		102	-0.485		HGNC	p.R1128G		COL12A1		SNV			1				ENST00000483888	protein_coding	getma.org/?cm=var&var=hg19,6,75865439,T,C&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/G		C	neutral	3692/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=1088&re=1168&var=R1128G					YES	COL12A1,missense_variant,p.Arg1128Gly,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Arg1128Gly,ENST00000483888,;COL12A1,missense_variant,p.Arg1128Gly,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000419671,;							MODERATE	3382/9192	R1128G	COCA1_HUMAN			Transcript		benign(0.009)	.	ENSP00000325146		CCDS43482.1			1	
ZNF175	0	LGGM	GRCh37	19	52091374	52091374	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	46	36	.	.	ENST00000262259.2:c.1790A>G	p.Asn597Ser	p.N597S	ENST00000262259	NM_007147.2	597	aAc/aGc	0	1	1	UPI000013C30A	0	getma.org/pdb.php?prot=ZN175_HUMAN&from=573&to=597&var=N597S	ENST00000262259		ENSG00000105497	12964		82	-0.215		HGNC	p.N597S		ZNF175		SNV							ENST00000262259	protein_coding	getma.org/?cm=var&var=hg19,19,52091374,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF37,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/S		G	neutral	2148/3742		getma.org/?cm=msa&ty=f&p=ZN175_HUMAN&rb=553&re=617&var=N597S	tolerated(0.76)				YES	ZNF175,missense_variant,p.Asn597Ser,ENST00000262259,NM_007147.2;ZNF175,intron_variant,,ENST00000436511,;AC018755.1,downstream_gene_variant,,ENST00000301439,;ZNF175,downstream_gene_variant,,ENST00000600460,;							MODERATE	1790/2136	N597S	ZN175_HUMAN			Transcript		benign(0.298)	.	ENSP00000262259		CCDS12837.1			1	
EVA1C	0	LGGM	GRCh37	21	33887467	33887467	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	54	36	.	.	ENST00000300255.2:c.1293C>A	p.Thr431=	p.T431=	ENST00000300255	NM_058187.3	431	acC/acA	0	1	1	UPI00000373F4	0		ENST00000300255		ENSG00000166979	13239		90			HGNC	p.T383T		EVA1C		SNV							ENST00000401402	protein_coding			Pfam_domain:PF14851		T		A		1766/1998				C9JS02_HUMAN,B3KWG0_HUMAN			YES	EVA1C,synonymous_variant,p.=,ENST00000300255,NM_058187.3;EVA1C,synonymous_variant,p.=,ENST00000382699,NM_001286556.1;EVA1C,synonymous_variant,p.=,ENST00000401402,;EVA1C,non_coding_transcript_exon_variant,,ENST00000485488,;EVA1C,downstream_gene_variant,,ENST00000496615,;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,;							LOW	1293/1326		EVA1C_HUMAN			Transcript			.	ENSP00000300255		CCDS13614.1			1	
INTS2	0	LGGM	GRCh37	17	59955438	59955438	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	45	37	.	.	ENST00000444766.3:c.2290G>A	p.Val764Ile	p.V764I	ENST00000444766	NM_020748.2	764	Gtc/Atc	0	1	1	UPI0000E5A03A	0	NA	ENST00000444766		ENSG00000108506	29241		82	-0.16		HGNC	p.V764I		INTS2		SNV							ENST00000444766	protein_coding	getma.org/?cm=var&var=hg19,17,59955438,C,T&fts=all		Pfam_domain:PF14750		V/I		T	neutral	2366/5878		getma.org/?cm=msa&ty=f&p=INT2_HUMAN&rb=6&re=1202&var=V764I	tolerated(0.91)	J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,missense_variant,p.Val764Ile,ENST00000444766,NM_020748.2;INTS2,missense_variant,p.Val756Ile,ENST00000251334,;Y_RNA,upstream_gene_variant,,ENST00000365491,;INTS2,non_coding_transcript_exon_variant,,ENST00000583822,;INTS2,non_coding_transcript_exon_variant,,ENST00000584967,;							MODERATE	2290/3615	V764I	INT2_HUMAN			Transcript		benign(0.044)	.	ENSP00000414237		CCDS45750.1			1	
FREM3	0	LGGM	GRCh37	4	144618875	144618875	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	28	39	.	.	ENST00000329798.5:c.2954C>A	p.Ser985Tyr	p.S985Y	ENST00000329798	NM_001168235.1	985	tCt/tAt	0	1	1	UPI0000D615C2	0	NA	ENST00000329798		ENSG00000183090	25172		67	2.075		HGNC	p.S985Y		FREM3		SNV							ENST00000329798	protein_coding	getma.org/?cm=var&var=hg19,4,144618875,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF30		S/Y		T	medium	2954/6729		getma.org/?cm=msa&ty=f&p=FREM3_HUMAN&rb=801&re=1000&var=S985Y	deleterious(0)				YES	FREM3,missense_variant,p.Ser985Tyr,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;							MODERATE	2954/6420	S985Y	FREM3_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000332886		CCDS54808.1			1	
DOCK8	0	LGGM	GRCh37	9	312014	312014	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	62	39	.	.	ENST00000453981.1:c.589T>A	p.Cys197Ser	p.C197S	ENST00000453981		197	Tgt/Agt	0	1		UPI000034ECCE	0	NA	ENST00000432829		ENSG00000107099	19191		101	-1.18		HGNC	p.C129S		DOCK8		SNV			1				ENST00000483757	protein_coding	getma.org/?cm=var&var=hg19,9,312014,T,A&fts=all		hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317		C/S		A	neutral	701/7452		getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=165&re=364&var=C197S	tolerated(1)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				DOCK8,missense_variant,p.Cys129Ser,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Cys197Ser,ENST00000453981,;DOCK8,missense_variant,p.Cys129Ser,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,non_coding_transcript_exon_variant,,ENST00000474772,;DOCK8,missense_variant,p.Cys129Ser,ENST00000483757,;DOCK8,3_prime_UTR_variant,,ENST00000524396,;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,;							MODERATE	385/6096	C197S	DOCK8_HUMAN			Transcript		benign(0.001)	.	ENSP00000394888		CCDS55283.1			1	
CCDC58	0	LGGM	GRCh37	3	122090552	122090552	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	29	40	.	.	ENST00000291458.5:c.147C>T	p.Ala49=	p.A49=	ENST00000291458	NM_001017928.2	49	gcC/gcT	0	1	1	UPI000020A069	0		ENST00000291458		ENSG00000160124	31136		69			HGNC	p.A49A		CCDC58		SNV							ENST00000291458	protein_coding			hmmpanther:PTHR31905,Pfam_domain:PF09774		A		A		154/720							YES	CCDC58,synonymous_variant,p.=,ENST00000291458,NM_001017928.2;CCDC58,synonymous_variant,p.=,ENST00000479899,;CCDC58,synonymous_variant,p.=,ENST00000479414,;CCDC58,intron_variant,,ENST00000497726,;CCDC58,upstream_gene_variant,,ENST00000466854,;CCDC58,non_coding_transcript_exon_variant,,ENST00000498466,;							LOW	147/435		CCD58_HUMAN			Transcript			.	ENSP00000291458		CCDS33838.1			1	
SLC4A4	0	LGGM	GRCh37	4	72332248	72332248	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	52	41	.	.	ENST00000425175.1:c.1585A>T	p.Thr529Ser	p.T529S	ENST00000425175	NM_001134742.1	529	Acc/Tcc	0	1		UPI000006DF04	0	NA	ENST00000264485		ENSG00000080493	11030		93	1.965		HGNC	p.T485S		SLC4A4		SNV			1				ENST00000512686	protein_coding	getma.org/?cm=var&var=hg19,4,72332248,A,T&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,Prints_domain:PR01232		T/S		T	medium	1702/5323		getma.org/?cm=msa&ty=f&p=S4A4_HUMAN&rb=435&re=956&var=T529S	deleterious(0.01)					SLC4A4,missense_variant,p.Thr485Ser,ENST00000340595,NM_003759.3;SLC4A4,missense_variant,p.Thr529Ser,ENST00000425175,NM_001134742.1;SLC4A4,missense_variant,p.Thr529Ser,ENST00000264485,NM_001098484.2;SLC4A4,missense_variant,p.Thr529Ser,ENST00000351898,;SLC4A4,missense_variant,p.Thr485Ser,ENST00000512686,;SLC4A4,non_coding_transcript_exon_variant,,ENST00000514331,;							MODERATE	1585/3240	T529S	S4A4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264485		CCDS43236.1			1	
RALGAPA2	0	LGGM	GRCh37	20	20610166	20610166	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	62	41	.	.	ENST00000202677.7:c.1074C>T	p.Asp358=	p.D358=	ENST00000202677	NM_020343.3	358	gaC/gaT	0	1	1	UPI000040F987	0		ENST00000202677		ENSG00000188559	16207		103			HGNC	p.D358D		RALGAPA2		SNV							ENST00000202677	protein_coding			hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2		D		A		1082/6152							YES	RALGAPA2,synonymous_variant,p.=,ENST00000430436,;RALGAPA2,synonymous_variant,p.=,ENST00000202677,NM_020343.3;							LOW	1074/5622		RGPA2_HUMAN			Transcript			.	ENSP00000202677		CCDS46584.1			1	
STON1-GTF2A1L	0	LGGM	GRCh37	2	48896897	48896897	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	70	42	.	.	ENST00000394754.1:c.3127A>T	p.Thr1043Ser	p.T1043S	ENST00000394754	NM_172311.2	1043	Act/Tct	0	1	1	UPI000013C976	0	NA	ENST00000394754		ENSG00000068781	30651		112	1.18		HGNC	p.T996S		STON1-GTF2A1L		SNV							ENST00000394751	protein_coding	getma.org/?cm=var&var=hg19,2,48896897,A,T&fts=all		Pfam_domain:PF03153		T/S		T	low	3241/3824		getma.org/?cm=msa&ty=f&p=TF2AY_HUMAN&rb=9&re=478&var=T339S	tolerated(0.46)	Q53S48_HUMAN			YES	STON1-GTF2A1L,missense_variant,p.Thr1043Ser,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Thr1043Ser,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Thr1043Ser,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Thr1043Ser,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Thr996Ser,ENST00000394751,NM_001198594.1;GTF2A1L,missense_variant,p.Thr339Ser,ENST00000403751,NM_006872.3;GTF2A1L,missense_variant,p.Thr305Ser,ENST00000430487,NM_001193487.1;GTF2A1L,upstream_gene_variant,,ENST00000508440,;LHCGR,upstream_gene_variant,,ENST00000420913,;							MODERATE	3127/3549	T339S				Transcript		benign(0.026)	.	ENSP00000378236		CCDS1840.1			1	
DISP1	0	LGGM	GRCh37	1	223168287	223168287	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	129	42	.	.	ENST00000284476.6:c.950C>T	p.Pro317Leu	p.P317L	ENST00000284476	NM_032890.3	317	cCt/cTt	0	1	1	UPI000016069D	0	NA	ENST00000284476		ENSG00000154309	19711		171	0.69		HGNC	p.P317L		DISP1		SNV			1				ENST00000284476	protein_coding	getma.org/?cm=var&var=hg19,1,223168287,C,T&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF115		P/L		T	neutral	1114/4762		getma.org/?cm=msa&ty=f&p=DISP1_HUMAN&rb=266&re=774&var=P317L	tolerated(0.15)				YES	DISP1,missense_variant,p.Pro317Leu,ENST00000284476,NM_032890.3;DISP1,downstream_gene_variant,,ENST00000495684,;							MODERATE	950/4575	P317L	DISP1_HUMAN			Transcript		benign(0.284)	.	ENSP00000284476		CCDS1536.1			1	
MYO5B	0	LGGM	GRCh37	18	47438497	47438497	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	71	43	.	.	ENST00000285039.7:c.2137A>G	p.Lys713Glu	p.K713E	ENST00000285039	NM_001080467.2	713	Aag/Gag	0	1	1	UPI00001D7B21	0	getma.org/pdb.php?prot=MYO5B_HUMAN&from=71&to=749&var=K713E	ENST00000285039		ENSG00000167306	7603		114	0.915		HGNC	p.K713E		MYO5B		SNV			1				ENST00000285039	protein_coding	getma.org/?cm=var&var=hg19,18,47438497,T,C&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,SMART_domains:SM00242,Superfamily_domains:SSF52540		K/E		C	low	2437/9505		getma.org/?cm=msa&ty=f&p=MYO5B_HUMAN&rb=71&re=749&var=K713E	tolerated(0.21)	Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN			YES	MYO5B,missense_variant,p.Lys713Glu,ENST00000285039,NM_001080467.2;							MODERATE	2137/5547	K713E	MYO5B_HUMAN			Transcript		benign(0.097)	.	ENSP00000285039		CCDS42436.1			1	
PRSS48	0	LGGM	GRCh37	4	152212387	152212387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	62	44	.	.	ENST00000455694.2:c.769T>A	p.Tyr257Asn	p.Y257N	ENST00000455694	NM_183375.2	257	Tac/Aac	0	1	1	UPI0000047B08	0	getma.org/pdb.php?prot=PRS48_HUMAN&from=28&to=262&var=Y257N	ENST00000455694		ENSG00000189099	24635		106	0.43		HGNC	p.Y257N		PRSS48		SNV							ENST00000455694	protein_coding	getma.org/?cm=var&var=hg19,4,152212387,T,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24273,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		Y/N		A	neutral	771/989		getma.org/?cm=msa&ty=f&p=PRS48_HUMAN&rb=28&re=262&var=Y257N	deleterious(0.01)				YES	PRSS48,missense_variant,p.Tyr257Asn,ENST00000455694,NM_183375.2;PRSS48,missense_variant,p.Tyr114Asn,ENST00000441586,;SH3D19,intron_variant,,ENST00000604030,;							MODERATE	769/987	Y257N	PRS48_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401328		CCDS47145.1			1	
ZDBF2	0	LGGM	GRCh37	2	207170054	207170054	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	42	44	.	.	ENST00000374423.3:c.802A>C	p.Lys268Gln	p.K268Q	ENST00000374423	NM_020923.1	268	Aag/Cag	0	1	1	UPI000022BDE3	0	NA	ENST00000374423		ENSG00000204186	29313		86	1.67		HGNC	p.K268Q		ZDBF2		SNV							ENST00000374423	protein_coding	getma.org/?cm=var&var=hg19,2,207170054,A,C&fts=all		hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		K/Q		C	low	1188/10282		getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=K268Q	deleterious(0.04)	N0DVB2_HUMAN			YES	ZDBF2,missense_variant,p.Lys268Gln,ENST00000374423,NM_020923.1,NM_001285549.1;							MODERATE	802/7065	K268Q	ZDBF2_HUMAN			Transcript		benign(0.403)	.	ENSP00000363545		CCDS46501.1			1	
IGLV2-23	0	LGGM	GRCh37	22	23040864	23040864	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090156	H090156N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	59	44	.	.	ENST00000390306.2:c.312G>A	p.Glu104=	p.E104=	ENST00000390306		104	gaG/gaA	0	1	1	UPI000173A2CA	0		ENST00000390306		ENSG00000211660	5890		103			HGNC	p.E104E		IGLV2-23		SNV							ENST00000390306	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF138,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		E		A		474/502							YES	IGLV2-23,synonymous_variant,p.=,ENST00000390306,;D86994.1,downstream_gene_variant,,ENST00000385095,;IGLVVI-22-1,upstream_gene_variant,,ENST00000521183,;IGLV3-24,downstream_gene_variant,,ENST00000517477,;							LOW	312/340					Transcript			.	ENSP00000374841					1	
MAGI3	0	LGGM	GRCh37	1	114226037	114226037	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	64	44	.	.	ENST00000307546.9:c.3847A>T	p.Arg1283Ter	p.R1283*	ENST00000307546	NM_001142782.1	1283	Aga/Tga	0	1	1	UPI00004589AE	0	NA	ENST00000307546		ENSG00000081026	29647		108	0		HGNC	p.R1283X		MAGI3		SNV							ENST00000307546	protein_coding	getma.org/?cm=var&var=hg19,1,114226037,A,T&fts=all				R/*		T	NA	3922/6430		NA					YES	MAGI3,stop_gained,p.Arg1283Ter,ENST00000307546,NM_001142782.1;MAGI3,3_prime_UTR_variant,,ENST00000369615,NM_152900.2;MAGI3,downstream_gene_variant,,ENST00000369617,;MAGI3,downstream_gene_variant,,ENST00000369611,;							HIGH	3847/4446	R1308*	MAGI3_HUMAN			Transcript			.	ENSP00000304604		CCDS44196.1			1	
RYR2	0	LGGM	GRCh37	1	237674990	237674990	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	103	46	.	.	ENST00000366574.2:c.2721T>A	p.Val907=	p.V907=	ENST00000366574	NM_001035.2	907	gtT/gtA	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		149			HGNC	p.V891V		RYR2		SNV			1				ENST00000542537	protein_coding			Pfam_domain:PF02026,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		V		A		3038/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,splice_region_variant,p.=,ENST00000366574,NM_001035.2;RYR2,splice_region_variant,p.=,ENST00000542537,;RYR2,splice_region_variant,p.=,ENST00000360064,;							LOW	2721/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
TPTE2	0	LGGM	GRCh37	13	20067610	20067610	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	44	46	.	.	ENST00000400230.2:c.43G>A	p.Glu15Lys	p.E15K	ENST00000400230		15	Gag/Aag	0	1	1	UPI000040738D	0	NA	ENST00000400230		ENSG00000132958	17299		90	0		HGNC	p.E15K	rs773649327	TPTE2	0.000182	SNV							ENST00000255310	protein_coding	getma.org/?cm=var&var=hg19,13,20067610,C,T&fts=all				E/K		T	neutral	88/1793	4.50E-05	getma.org/?cm=msa&ty=f&p=TPTE2_HUMAN&rb=1&re=110&var=E15K	tolerated_low_confidence(0.74)				YES	TPTE2,missense_variant,p.Glu15Lys,ENST00000400230,;TPTE2,missense_variant,p.Glu15Lys,ENST00000382977,NM_199254.2;TPTE2,missense_variant,p.Glu15Lys,ENST00000382978,;TPTE2,missense_variant,p.Glu15Lys,ENST00000382975,;TPTE2,missense_variant,p.Glu15Lys,ENST00000400103,NM_001141968.1;TPTE2,missense_variant,p.Glu15Lys,ENST00000255310,;TPTE2,missense_variant,p.Glu15Lys,ENST00000390680,NM_130785.3;TPTE2,missense_variant,p.Glu15Lys,ENST00000457266,;TPTE2,missense_variant,p.Glu15Lys,ENST00000462409,;							MODERATE	43/1569	E15K	TPTE2_HUMAN			Transcript		benign(0.001)	.	ENSP00000383089	4.94E-05	CCDS45014.1			1	
HMCN1	0	LGGM	GRCh37	1	185892777	185892777	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	36	47	.	.	ENST00000271588.4:c.1277T>A	p.Ile426Asn	p.I426N	ENST00000271588	NM_031935.2	426	aTt/aAt	0	1	1	UPI0000458C0E	0	NA	ENST00000271588		ENSG00000143341	19194		83	1.955		HGNC	p.I426N		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185892777,T,A&fts=all		hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158		I/N		A	medium	1506/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=343&re=471&var=I426N					YES	HMCN1,missense_variant,p.Ile426Asn,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ile426Asn,ENST00000367492,;							MODERATE	1277/16908	I426N	HMCN1_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000271588		CCDS30956.1			1	
KDR	0	LGGM	GRCh37	4	55976859	55976859	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	59	48	.	.	ENST00000263923.4:c.1053T>A	p.Pro351=	p.P351=	ENST00000263923	NM_002253.2	351	ccT/ccA	0	1	1	UPI000003AE04	0		ENST00000263923		ENSG00000128052	6307		107			HGNC	p.P351P		KDR		SNV			1				ENST00000263923	protein_coding			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		P		T		1349/5831				B4DEK3_HUMAN			YES	KDR,synonymous_variant,p.=,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;							LOW	1053/4071		VGFR2_HUMAN			Transcript			.	ENSP00000263923		CCDS3497.1			1	
BPIFA1	0	LGGM	GRCh37	20	31828116	31828116	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	82	48	.	.	ENST00000354297.4:c.506A>T	p.Lys169Met	p.K169M	ENST00000354297	NM_130852.2	169	aAg/aTg	0	1	1	UPI0000048F11	0	NA	ENST00000354297		ENSG00000198183	15749		130	1.15		HGNC	p.K169M		BPIFA1		SNV							ENST00000354297	protein_coding	getma.org/?cm=var&var=hg19,20,31828116,A,T&fts=all		Pfam_domain:PF01273,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF70,Superfamily_domains:SSF55394		K/M		T	low	577/1079		getma.org/?cm=msa&ty=f&p=BPIA1_HUMAN&rb=1&re=200&var=K169M	deleterious(0.05)	A6XMV5_HUMAN			YES	BPIFA1,missense_variant,p.Lys169Met,ENST00000354297,NM_130852.2;BPIFA1,missense_variant,p.Lys169Met,ENST00000375422,NM_001243193.1;BPIFA1,missense_variant,p.Lys169Met,ENST00000375413,NM_016583.3;AL121901.1,downstream_gene_variant,,ENST00000601172,;							MODERATE	506/771	K169M	BPIA1_HUMAN			Transcript		benign(0.1)	.	ENSP00000346251		CCDS13217.1			1	
BCL9	0	LGGM	GRCh37	1	147086235	147086235	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	44	48	.	.	ENST00000234739.3:c.380C>G	p.Ser127Cys	p.S127C	ENST00000234739	NM_004326.3	127	tCt/tGt	0	1	1	UPI000013C9B9	0	NA	ENST00000234739		ENSG00000116128	1008		92	1.04		HGNC	p.S127C		BCL9		SNV							ENST00000234739	protein_coding	getma.org/?cm=var&var=hg19,1,147086235,C,G&fts=all		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5		S/C		G	low	1120/6278		getma.org/?cm=msa&ty=f&p=BCL9_HUMAN&rb=1&re=346&var=S127C	tolerated(0.07)				YES	BCL9,missense_variant,p.Ser127Cys,ENST00000234739,NM_004326.3;BCL9,non_coding_transcript_exon_variant,,ENST00000473292,;BCL9,downstream_gene_variant,,ENST00000497938,;							MODERATE	380/4281	S127C	BCL9_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000234739		CCDS30833.1			1	
TMEM67	0	LGGM	GRCh37	8	94793156	94793156	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	66	49	.	.	ENST00000453321.3:c.924A>T	p.Gln308His	p.Q308H	ENST00000453321	NM_153704.5	308	caA/caT	0	1	1	UPI0000D624E9	0	NA	ENST00000453321		ENSG00000164953	28396		115	1.43		HGNC	p.Q298H		TMEM67		SNV			1				ENST00000323130	protein_coding	getma.org/?cm=var&var=hg19,8,94793156,A,T&fts=all		Pfam_domain:PF09773,hmmpanther:PTHR21274,hmmpanther:PTHR21274:SF0		Q/H		T	low	982/4651		getma.org/?cm=msa&ty=f&p=MKS3_HUMAN&rb=163&re=995&var=Q308H	deleterious(0.01)	E5RG10_HUMAN,C9JRQ8_HUMAN			YES	TMEM67,missense_variant,p.Gln308His,ENST00000453321,NM_153704.5;TMEM67,missense_variant,p.Gln227His,ENST00000409623,NM_001142301.1;TMEM67,missense_variant,p.Gln205His,ENST00000452276,;TMEM67,intron_variant,,ENST00000453906,;TMEM67,upstream_gene_variant,,ENST00000520680,;TMEM67,non_coding_transcript_exon_variant,,ENST00000425545,;TMEM67,upstream_gene_variant,,ENST00000520634,;TMEM67,missense_variant,p.Gln298His,ENST00000323130,;TMEM67,non_coding_transcript_exon_variant,,ENST00000496213,;TMEM67,intron_variant,,ENST00000474944,;							MODERATE	924/2988	Q308H	MKS3_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000389998		CCDS6258.2			1	
ZFHX4	0	LGGM	GRCh37	8	77767819	77767819	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	50	50	.	.	ENST00000521891.2:c.8662A>T	p.Ile2888Phe	p.I2888F	ENST00000521891	NM_024721.4	2888	Atc/Ttc	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		100	0.69		HGNC	p.I2843F		ZFHX4		SNV							ENST00000455469	protein_coding	getma.org/?cm=var&var=hg19,8,77767819,A,T&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40		I/F		T	neutral	9110/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=2654&re=2853&var=I2843F		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Ile2888Phe,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Ile2843Phe,ENST00000455469,;ZFHX4,missense_variant,p.Ile2862Phe,ENST00000518282,;ZFHX4,missense_variant,p.Ile2843Phe,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000522409,;							MODERATE	8662/10851	I2843F				Transcript		possibly_damaging(0.719)	.	ENSP00000430497		CCDS47878.2			1	
OR14A2	0	LGGM	GRCh37	1	247887049	247887049	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	55	54	.	.	ENST00000366485.1:c.297A>T	p.Leu99=	p.L99=	ENST00000366485		99	ctA/ctT	0	1	1	UPI000004A5E7	0		ENST00000366485		ENSG00000241128	15024		109			HGNC	p.L99L		OR14A2		SNV							ENST00000366485	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF282,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		L		A		297/945							YES	OR14A2,synonymous_variant,p.=,ENST00000366485,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000426444,;RP11-634B7.5,non_coding_transcript_exon_variant,,ENST00000419891,;RP11-634B7.4,intron_variant,,ENST00000449298,;							LOW	297/945		O14A2_HUMAN			Transcript			.	ENSP00000355441					1	
MGAM	0	LGGM	GRCh37	7	141750070	141750070	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	67	55	.	.	ENST00000549489.2:c.2623T>C	p.Phe875Leu	p.F875L	ENST00000549489	NM_004668.2	875	Ttt/Ctt	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=822&to=956&var=F875L	ENST00000549489		ENSG00000257335	7043		122	2.71		HGNC	p.F875L		MGAM		SNV							ENST00000475668	protein_coding	getma.org/?cm=var&var=hg19,7,141750070,T,C&fts=all		hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762		F/L		C	medium	2718/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=822&re=956&var=F875L	deleterious(0.01)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Phe875Leu,ENST00000475668,;MGAM,missense_variant,p.Phe875Leu,ENST00000549489,NM_004668.2;							MODERATE	2623/5574	F875L	MGA_HUMAN			Transcript		benign(0)	.	ENSP00000447378		CCDS47727.1			1	
PHACTR1	0	LGGM	GRCh37	6	13228278	13228278	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	90	58	.	.	ENST00000332995.7:c.1217A>G	p.Asp406Gly	p.D406G	ENST00000332995		406	gAc/gGc	0	1		UPI00015E05CA	0	NA	ENST00000332995		ENSG00000112137	20990		148	1.355		HGNC	p.D475G		PHACTR1		SNV							ENST00000432934	protein_coding	getma.org/?cm=var&var=hg19,6,13228278,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF6		D/G		G	low	1217/1740		getma.org/?cm=msa&ty=f&p=PHAR1_HUMAN&rb=363&re=421&var=D406G		J3KQF9_HUMAN,F8W882_HUMAN				PHACTR1,missense_variant,p.Asp406Gly,ENST00000379350,;PHACTR1,missense_variant,p.Asp241Gly,ENST00000415087,NM_001242648.1,NM_030948.2;PHACTR1,missense_variant,p.Asp406Gly,ENST00000332995,;PHACTR1,missense_variant,p.Asp261Gly,ENST00000457702,;PHACTR1,intron_variant,,ENST00000379345,;PHACTR1,intron_variant,,ENST00000434977,;							MODERATE	1217/1740	D406G				Transcript		probably_damaging(0.91)	.	ENSP00000329880					1	
EPB41L4A	0	LGGM	GRCh37	5	111615969	111615969	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	73	60	.	.	ENST00000261486.5:c.256A>T	p.Thr86Ser	p.T86S	ENST00000261486	NM_022140.3	86	Act/Tct	0	1	1	UPI000020C3F8	0	getma.org/pdb.php?prot=E41LA_HUMAN&from=15&to=100&var=T86S	ENST00000261486		ENSG00000129595	13278		133	1.01		HGNC	p.T86S		EPB41L4A		SNV							ENST00000261486	protein_coding	getma.org/?cm=var&var=hg19,5,111615969,T,A&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF11,PROSITE_patterns:PS00660,Pfam_domain:PF09379,Gene3D:3.10.20.90,SMART_domains:SM00295,Superfamily_domains:SSF54236,Prints_domain:PR00661		T/S		A	low	533/4707		getma.org/?cm=msa&ty=f&p=E41LA_HUMAN&rb=15&re=100&var=T86S	tolerated(0.4)	Q8NEH8_HUMAN			YES	EPB41L4A,missense_variant,p.Thr86Ser,ENST00000261486,NM_022140.3;EPB41L4A,splice_region_variant,,ENST00000512395,;EPB41L4A,splice_region_variant,,ENST00000305368,;EPB41L4A,splice_region_variant,,ENST00000514203,;							MODERATE	256/2061	T86S	E41LA_HUMAN			Transcript		benign(0.422)	.	ENSP00000261486		CCDS43350.1			1	
PRUNE2	0	LGGM	GRCh37	9	79324517	79324517	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	100	61	.	.	ENST00000376718.3:c.2673T>A	p.Thr891=	p.T891=	ENST00000376718	NM_015225.2	891	acT/acA	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		161			HGNC	p.T891T		PRUNE2		SNV							ENST00000376718	protein_coding			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		T		T		2797/12584							YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;							LOW	2673/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
FAM90A26	0	LGGM	GRCh37	4	9175689	9175689	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	13	68	.	.	ENST00000512047.1:c.297T>A	p.Asp99Glu	p.D99E	ENST00000512047		99	gaT/gaA	0	1	1	UPI0000160799	0		ENST00000512047		ENSG00000229924	43746		81			HGNC	p.D99E		FAM90A26		SNV							ENST00000432515	protein_coding			hmmpanther:PTHR16035:SF8,hmmpanther:PTHR16035		D/E		A		831/2489			tolerated(1)	D6RGX4_HUMAN			YES	FAM90A26,missense_variant,p.Asp99Glu,ENST00000512047,;FAM90A26,missense_variant,p.Asp99Glu,ENST00000432515,;ALG1L14P,upstream_gene_variant,,ENST00000514230,;							MODERATE	297/1395					Transcript		benign(0.277)	.	ENSP00000421131					1	
APOBEC2	0	LGGM	GRCh37	6	41029313	41029313	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090156	H090156N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	98	68	.	.	ENST00000244669.2:c.378C>T	p.Ser126=	p.S126=	ENST00000244669	NM_006789.3	126	agC/agT	0	1	1	UPI000000DC55	0		ENST00000244669		ENSG00000124701	605		166			HGNC	p.S126S		APOBEC2		SNV							ENST00000244669	protein_coding			hmmpanther:PTHR13857:SF4,hmmpanther:PTHR13857,Gene3D:3.40.140.10,Pfam_domain:PF08210,Superfamily_domains:SSF53927		S		T		422/1151							YES	APOBEC2,synonymous_variant,p.=,ENST00000244669,NM_006789.3;OARD1,downstream_gene_variant,,ENST00000479950,;OARD1,downstream_gene_variant,,ENST00000463088,;OARD1,intron_variant,,ENST00000482853,;							LOW	378/675		ABEC2_HUMAN			Transcript			.	ENSP00000244669		CCDS4848.1			1	
SPATA31A6	0	LGGM	GRCh37	9	43627688	43627688	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090156	H090156N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	127	80	.	.	ENST00000332857.6:c.999A>T	p.Thr333=	p.T333=	ENST00000332857	NM_001145196.1	333	acA/acT	0	1	1	UPI0000197F6E	0		ENST00000332857		ENSG00000185775	32006		207			HGNC	p.T333T		SPATA31A6		SNV							ENST00000332857	protein_coding			hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859		T		A		1028/4209							YES	SPATA31A6,synonymous_variant,p.=,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;							LOW	999/4032		S31A6_HUMAN			Transcript			.	ENSP00000329825		CCDS47973.1			1	
PCLO	0	LGGM	GRCh37	7	82584686	82584686	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	98	82	.	.	ENST00000333891.9:c.5583T>A	p.Pro1861=	p.P1861=	ENST00000333891	NM_033026.5	1861	ccT/ccA	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		180			HGNC	p.P1861P		PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		P		T		5921/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							LOW	5583/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
NOX1	0	LGGM	GRCh37	X	100117476	100117476	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090156	H090156N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090156N.bam, H090156T.bam	Illumina HiSeq	16	92	.	.	ENST00000372966.3:c.576T>A	p.Ala192=	p.A192=	ENST00000372966	NM_001271815.1	192	gcT/gcA	0	1	1	UPI00001303C1	0		ENST00000372966		ENSG00000007952	7889		108			HGNC	p.A155A		NOX1		SNV							ENST00000372960	protein_coding			hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972,Pfam_domain:PF01794,Prints_domain:PR00466		A		T		782/2529							YES	NOX1,synonymous_variant,p.=,ENST00000372966,NM_001271815.1,NM_013955.2,NM_007052.4;NOX1,synonymous_variant,p.=,ENST00000217885,;NOX1,synonymous_variant,p.=,ENST00000372960,;NOX1,intron_variant,,ENST00000372964,;							LOW	576/1695		NOX1_HUMAN			Transcript			.	ENSP00000362057		CCDS14474.1			1	
SPN	0	LGGM	GRCh37	16	29675921	29675921	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	0	2	.	.	ENST00000360121.3:c.872G>A	p.Ser291Asn	p.S291N	ENST00000360121	NM_001030288.2	291	aGc/aAc	0	1	1	UPI000012E5AA	0	NA	ENST00000360121		ENSG00000197471	11249		2	1.845		HGNC	p.S291N		SPN		SNV							ENST00000563039	protein_coding	getma.org/?cm=var&var=hg19,16,29675921,G,A&fts=all				S/N		A	low	964/6854		getma.org/?cm=msa&ty=f&p=LEUK_HUMAN&rb=271&re=399&var=S291N	tolerated(0.3)	C9JUK7_HUMAN,A8K9B1_HUMAN			YES	SPN,missense_variant,p.Ser291Asn,ENST00000360121,NM_001030288.2,NM_003123.4;SPN,missense_variant,p.Ser291Asn,ENST00000395389,;SPN,missense_variant,p.Ser291Asn,ENST00000436527,;QPRT,intron_variant,,ENST00000449759,;SPN,missense_variant,p.Ser291Asn,ENST00000563039,;SPN,upstream_gene_variant,,ENST00000561857,;							MODERATE	872/1203	S291N	LEUK_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000353238		CCDS10650.1			1	
LSM14B	0	LGGM	GRCh37	20	60708425	60708425	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	2	.	.	ENST00000279068.6:c.1066C>G	p.Arg356Gly	p.R356G	ENST00000279068	NM_144703.2	356	Cgc/Ggc	0	1	1	UPI0000073028	0	NA	ENST00000279068		ENSG00000149657	15887		11	0.55		HGNC	p.R356G		LSM14B		SNV							ENST00000279068	protein_coding	getma.org/?cm=var&var=hg19,20,60708425,C,G&fts=all		hmmpanther:PTHR13586,hmmpanther:PTHR13586:SF1,Low_complexity_(Seg):seg		R/G		G	neutral	1226/2548		getma.org/?cm=msa&ty=f&p=LS14B_HUMAN&rb=351&re=385&var=R356G	tolerated(0.27)				YES	LSM14B,missense_variant,p.Arg356Gly,ENST00000253001,;LSM14B,missense_variant,p.Arg356Gly,ENST00000279068,NM_144703.2;LSM14B,downstream_gene_variant,,ENST00000361670,;LSM14B,downstream_gene_variant,,ENST00000400318,;PSMA7,downstream_gene_variant,,ENST00000370873,NM_002792.3;LSM14B,downstream_gene_variant,,ENST00000279069,;PSMA7,downstream_gene_variant,,ENST00000370861,;PSMA7,downstream_gene_variant,,ENST00000442551,;PSMA7,downstream_gene_variant,,ENST00000484488,;PSMA7,downstream_gene_variant,,ENST00000486193,;							MODERATE	1066/1158	R356G	LS14B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000279068		CCDS46626.1			1	
DVL2	0	LGGM	GRCh37	17	7129758	7129758	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090284	H090284N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	2	.	.	ENST00000005340.5:c.1744A>G	p.Ser582Gly	p.S582G	ENST00000005340	NM_004422.2	582	Agc/Ggc	0	1	1	UPI0000000DE9	0	NA	ENST00000005340		ENSG00000004975	3086		8	-1.375		HGNC	p.S582G		DVL2		SNV							ENST00000005340	protein_coding	getma.org/?cm=var&var=hg19,17,7129758,T,C&fts=all		Pfam_domain:PF12316,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,Low_complexity_(Seg):seg		S/G		C	neutral	2027/3018		getma.org/?cm=msa&ty=f&p=DVL2_HUMAN&rb=515&re=726&var=S582G	tolerated(1)	B4E2D6_HUMAN			YES	DVL2,missense_variant,p.Ser582Gly,ENST00000005340,NM_004422.2;DVL2,missense_variant,p.Ser576Gly,ENST00000575458,;DVL2,missense_variant,p.Ser236Gly,ENST00000575086,;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;DVL2,downstream_gene_variant,,ENST00000575756,;ACADVL,downstream_gene_variant,,ENST00000542255,;DVL2,downstream_gene_variant,,ENST00000574143,;ACADVL,downstream_gene_variant,,ENST00000583312,;ACADVL,downstream_gene_variant,,ENST00000579546,;ACADVL,downstream_gene_variant,,ENST00000579886,;MIR324,upstream_gene_variant,,ENST00000362183,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000581562,;ACADVL,downstream_gene_variant,,ENST00000577857,;ACADVL,downstream_gene_variant,,ENST00000583074,;ACADVL,downstream_gene_variant,,ENST00000322910,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000577191,;ACADVL,downstream_gene_variant,,ENST00000583858,;DVL2,downstream_gene_variant,,ENST00000576949,;ACADVL,downstream_gene_variant,,ENST00000585203,;DVL2,downstream_gene_variant,,ENST00000576840,;ACADVL,downstream_gene_variant,,ENST00000579286,;ACADVL,downstream_gene_variant,,ENST00000583850,;ACADVL,downstream_gene_variant,,ENST00000582379,;ACADVL,downstream_gene_variant,,ENST00000577433,;ACADVL,downstream_gene_variant,,ENST00000581378,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000578809,;DVL2,downstream_gene_variant,,ENST00000576285,;DVL2,downstream_gene_variant,,ENST00000574591,;ACADVL,downstream_gene_variant,,ENST00000583760,;DVL2,downstream_gene_variant,,ENST00000576439,;ACADVL,downstream_gene_variant,,ENST00000578033,;DVL2,downstream_gene_variant,,ENST00000571745,;ACADVL,downstream_gene_variant,,ENST00000582166,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000580365,;ACADVL,downstream_gene_variant,,ENST00000578579,;ACADVL,downstream_gene_variant,,ENST00000579894,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582450,;							MODERATE	1744/2211	S582G	DVL2_HUMAN			Transcript		benign(0.418)	.	ENSP00000005340		CCDS11091.1			1	
PRR5L	0	LGGM	GRCh37	11	36484228	36484228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090284	H090284N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	2	.	.	ENST00000378867.3:c.1049A>G	p.Glu350Gly	p.E350G	ENST00000378867	NM_024841.4	350	gAg/gGg	0	1	1	UPI0000DBEF36	0	NA	ENST00000378867		ENSG00000135362	25878		13	0.625		HGNC	p.E277G		PRR5L		SNV							ENST00000311599	protein_coding	getma.org/?cm=var&var=hg19,11,36484228,A,G&fts=all		hmmpanther:PTHR32428,hmmpanther:PTHR32428:SF3		E/G		G	neutral	1404/3930		getma.org/?cm=msa&ty=f&p=PRR5L_HUMAN&rb=314&re=350&var=E350G	tolerated_low_confidence(0.23)	E9PS02_HUMAN,E9PP62_HUMAN,E9PP25_HUMAN,E9PLJ6_HUMAN,E9PL62_HUMAN,E9PKK6_HUMAN,E9PJV4_HUMAN,E9PIU0_HUMAN			YES	PRR5L,missense_variant,p.Glu350Gly,ENST00000378867,NM_024841.4;PRR5L,missense_variant,p.Glu277Gly,ENST00000311599,NM_001160168.1;PRR5L,missense_variant,p.Glu350Gly,ENST00000530639,NM_001160167.1;PRR5L,downstream_gene_variant,,ENST00000527487,NM_001160169.1;PRR5L,non_coding_transcript_exon_variant,,ENST00000389693,;PRR5L,non_coding_transcript_exon_variant,,ENST00000530627,;PRR5L,non_coding_transcript_exon_variant,,ENST00000525672,;PRR5L,downstream_gene_variant,,ENST00000529020,;							MODERATE	1049/1107	E350G	PRR5L_HUMAN			Transcript		benign(0)	.	ENSP00000368144		CCDS31463.1			1	
NFE2L1	0	LGGM	GRCh37	17	46134459	46134459	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	2	.	.	ENST00000362042.3:c.789C>G	p.Thr263=	p.T263=	ENST00000362042	NM_003204.2	263	acC/acG	0	1	1	UPI000012FFCF	0		ENST00000362042		ENSG00000082641	7781		6			HGNC	p.T252T		NFE2L1		SNV							ENST00000361665	protein_coding			hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411		T		G		1405/4774				Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN			YES	NFE2L1,synonymous_variant,p.=,ENST00000362042,NM_003204.2;NFE2L1,synonymous_variant,p.=,ENST00000361665,;NFE2L1,5_prime_UTR_variant,,ENST00000584634,;NFE2L1,intron_variant,,ENST00000357480,;NFE2L1,intron_variant,,ENST00000585291,;NFE2L1,intron_variant,,ENST00000536222,;NFE2L1,intron_variant,,ENST00000583378,;NFE2L1,intron_variant,,ENST00000582155,;NFE2L1,intron_variant,,ENST00000577431,;NFE2L1,intron_variant,,ENST00000580037,;NFE2L1,intron_variant,,ENST00000577411,;NFE2L1,intron_variant,,ENST00000583210,;NFE2L1,upstream_gene_variant,,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;							LOW	789/2319		NF2L1_HUMAN			Transcript			.	ENSP00000354855		CCDS11524.1			1	
FLI1	0	LGGM	GRCh37	11	128680359	128680359	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	2	.	.	ENST00000527786.2:c.835G>C	p.Gly279Arg	p.G279R	ENST00000527786	NM_001271010.1	279	Ggg/Cgg	0	1	1	UPI000012A972	0	NA	ENST00000527786		ENSG00000151702	3749		8	2.325		HGNC	p.G279R		FLI1		SNV			1				ENST00000429175	protein_coding	getma.org/?cm=var&var=hg19,11,128680359,G,C&fts=all		Superfamily_domains:SSF46785,Gene3D:1.10.10.10,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF180		G/R		C	medium	1324/4127		getma.org/?cm=msa&ty=f&p=FLI1_HUMAN&rb=199&re=279&var=G279R	deleterious(0)				YES	FLI1,missense_variant,p.Gly279Arg,ENST00000527786,NM_001271010.1,NM_002017.4;FLI1,missense_variant,p.Gly246Arg,ENST00000344954,;FLI1,missense_variant,p.Gly246Arg,ENST00000534087,NM_001167681.2;FLI1,missense_variant,p.Gly213Arg,ENST00000281428,;FLI1,missense_variant,p.Gly86Arg,ENST00000525560,NM_001271012.1;FLI1,3_prime_UTR_variant,,ENST00000429175,;FLI1,3_prime_UTR_variant,,ENST00000608303,;FLI1,non_coding_transcript_exon_variant,,ENST00000528790,;							MODERATE	835/1359	G279R				Transcript		probably_damaging(0.999)	.	ENSP00000433488		CCDS44768.1			1	
EMILIN3	0	LGGM	GRCh37	20	39989963	39989963	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090284	H090284N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	2	.	.	ENST00000332312.3:c.2246T>C	p.Leu749Pro	p.L749P	ENST00000332312	NM_052846.1	749	cTa/cCa	0	1	1	UPI00001D82E8	0	NA	ENST00000332312		ENSG00000183798	16123		11	1.04		HGNC	p.L749P		EMILIN3		SNV							ENST00000332312	protein_coding	getma.org/?cm=var&var=hg19,20,39989963,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF2		L/P		G	low	2439/3796		getma.org/?cm=msa&ty=f&p=EMIL3_HUMAN&rb=729&re=766&var=L749P	deleterious(0)	Q495S5_HUMAN			YES	EMILIN3,missense_variant,p.Leu749Pro,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,;							MODERATE	2246/2301	L749P	EMIL3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000332806		CCDS13316.1			1	
KCTD12	0	LGGM	GRCh37	13	77460077	77460077	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	0	2	.	.	ENST00000377474.2:c.207G>T	p.Pro69=	p.P69=	ENST00000377474	NM_138444.3	69	ccG/ccT	0	1	1	UPI0000073DDF	0		ENST00000377474		ENSG00000178695	14678		2			HGNC	p.P69P		KCTD12		SNV							ENST00000317765	protein_coding			hmmpanther:PTHR14499:SF29,hmmpanther:PTHR14499,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		P		A		449/6214							YES	KCTD12,synonymous_variant,p.=,ENST00000377474,NM_138444.3;KCTD12,synonymous_variant,p.=,ENST00000317765,;AC000403.1,downstream_gene_variant,,ENST00000579275,;							LOW	207/978		KCD12_HUMAN			Transcript			.	ENSP00000366694		CCDS9455.1			1	
DNM2	0	LGGM	GRCh37	19	10923035	10923035	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	2	.	.	ENST00000389253.4:c.1653C>G	p.Ser551=	p.S551=	ENST00000389253	NM_001005361.2	551	tcC/tcG	0	1		UPI0000203350	0		ENST00000355667		ENSG00000079805	2974		6			HGNC	p.S547S	rs751697107	DNM2	7.92E-05	SNV			1				ENST00000359692	protein_coding			Superfamily_domains:SSF50729,SMART_domains:SM00233,Pfam_domain:PF00169,Gene3D:2.30.29.30,hmmpanther:PTHR11566:SF23,hmmpanther:PTHR11566,PROSITE_profiles:PS50003		S		G		1733/3541				K7EPK9_HUMAN				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,downstream_gene_variant,,ENST00000587830,;DNM2,non_coding_transcript_exon_variant,,ENST00000590806,;DNM2,non_coding_transcript_exon_variant,,ENST00000590787,;							LOW	1653/2613		DYN2_HUMAN			Transcript			.	ENSP00000347890	8.25E-06	CCDS45968.1			1	
WFDC10A	0	LGGM	GRCh37	20	44259589	44259589	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000372643.3:c.172C>A	p.Arg58=	p.R58=	ENST00000372643	NM_080753.2	58	Cga/Aga	0	1	1	UPI0000043C51	0		ENST00000372643		ENSG00000180305	16139		43			HGNC	p.R58R		WFDC10A		SNV							ENST00000372643	protein_coding			PROSITE_profiles:PS51390,hmmpanther:PTHR19441:SF21,hmmpanther:PTHR19441,Pfam_domain:PF00095,Gene3D:4.10.75.10,Superfamily_domains:SSF57256		R		A		460/706							YES	WFDC10A,synonymous_variant,p.=,ENST00000372643,NM_080753.2;WFDC9,intron_variant,,ENST00000326000,NM_147198.3;							LOW	172/240		WF10A_HUMAN			Transcript			.	ENSP00000361726		CCDS13363.1			1	
DIS3L2	0	LGGM	GRCh37	2	232894775	232894775	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000325385.7:c.351C>A	p.Pro117=	p.P117=	ENST00000325385	NM_152383.4	117	ccC/ccA	0	1	1	UPI000004BF03	0		ENST00000325385		ENSG00000144535	28648		40			HGNC	p.P117P		DIS3L2		SNV			1				ENST00000441279	protein_coding			HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Superfamily_domains:SSF50249		P		A		627/3501				H7C440_HUMAN,C9JGP4_HUMAN			YES	DIS3L2,synonymous_variant,p.=,ENST00000325385,NM_152383.4;DIS3L2,synonymous_variant,p.=,ENST00000273009,NM_001257281.1;DIS3L2,synonymous_variant,p.=,ENST00000409307,;DIS3L2,synonymous_variant,p.=,ENST00000409401,NM_001257282.1;DIS3L2,synonymous_variant,p.=,ENST00000360410,;DIS3L2,synonymous_variant,p.=,ENST00000441279,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000470087,;DIS3L2,synonymous_variant,p.=,ENST00000433430,;DIS3L2,synonymous_variant,p.=,ENST00000390005,;DIS3L2,synonymous_variant,p.=,ENST00000445090,;DIS3L2,non_coding_transcript_exon_variant,,ENST00000464554,;							LOW	351/2658		DI3L2_HUMAN			Transcript			.	ENSP00000315569		CCDS42834.1			1	
ERGIC1	0	LGGM	GRCh37	5	172341789	172341789	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000393784.3:c.323C>A	p.Pro108Gln	p.P108Q	ENST00000393784	NM_001031711.2	108	cCg/cAg	0	1	1	UPI0000072178	0	NA	ENST00000393784		ENSG00000113719	29205		22	1.89		HGNC	p.P108Q		ERGIC1		SNV							ENST00000520326	protein_coding	getma.org/?cm=var&var=hg19,5,172341789,C,A&fts=all		hmmpanther:PTHR10984,Pfam_domain:PF07970		P/Q		A	low	462/2881		getma.org/?cm=msa&ty=f&p=ERGI1_HUMAN&rb=97&re=271&var=P108Q	tolerated(0.09)				YES	ERGIC1,missense_variant,p.Pro63Gln,ENST00000326654,;ERGIC1,missense_variant,p.Pro108Gln,ENST00000393784,NM_001031711.2;ERGIC1,missense_variant,p.Pro108Gln,ENST00000520326,;ERGIC1,missense_variant,p.Pro108Gln,ENST00000523291,;ERGIC1,missense_variant,p.Pro63Gln,ENST00000518247,;ERGIC1,missense_variant,p.Pro97Gln,ENST00000519567,;ERGIC1,3_prime_UTR_variant,,ENST00000519796,;ERGIC1,3_prime_UTR_variant,,ENST00000520642,;							MODERATE	323/873	P108Q	ERGI1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000377374		CCDS34292.1			1	
SPG21	0	LGGM	GRCh37	15	65256079	65256079	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H090284	H090284N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	3	.	.	ENST00000204566.2:c.811-2A>G		p.X271_splice	ENST00000204566	NM_016630.3			0	1	1	UPI0000074012	0		ENST00000204566		ENSG00000090487	20373		37			HGNC	-		SPG21		SNV			1				ENST00000204566	protein_coding							C		-/1822				H3BRR0_HUMAN,H0YML6_HUMAN,H0YMB7_HUMAN,H0YLW1_HUMAN,H0YLT5_HUMAN,H0YLD7_HUMAN,H0YKB0_HUMAN			YES	SPG21,splice_acceptor_variant,,ENST00000559199,;SPG21,splice_acceptor_variant,,ENST00000204566,NM_016630.3;SPG21,splice_acceptor_variant,,ENST00000433215,NM_001127889.1;SPG21,splice_acceptor_variant,,ENST00000416889,NM_001127890.1;SPG21,splice_acceptor_variant,,ENST00000561078,;							HIGH	811/927		SPG21_HUMAN			Transcript			.	ENSP00000204566		CCDS10198.1			1	
COL4A1	0	LGGM	GRCh37	13	110839678	110839679	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	TG	TG	-	novel	by Submitter	H090284	H090284N.bam	TG	TG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	3	.	.	ENST00000375820.4:c.1537-3_1537-2del		p.X513_splice	ENST00000375820	NM_001845.4			0	1	1	UPI00001FCA8A	0		ENST00000375820		ENSG00000187498	2202		13			HGNC	-		COL4A1		deletion			1				-	protein_coding							-		-/6524				A9LSU1_HUMAN			YES	COL4A1,splice_acceptor_variant,,ENST00000375820,NM_001845.4;COL4A1,downstream_gene_variant,,ENST00000543140,;							HIGH	1537/5010		CO4A1_HUMAN			Transcript			.	ENSP00000364979		CCDS9511.1			1	
GJD2	0	LGGM	GRCh37	15	35045574	35045574	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000290374.4:c.72-1G>T		p.X24_splice	ENST00000290374	NM_020660.2			0	1	1	UPI00001287E3	0		ENST00000290374		ENSG00000159248	19154		11			HGNC	-		GJD2		SNV							ENST00000290374	protein_coding							A		-/2889							YES	GJD2,splice_acceptor_variant,,ENST00000290374,NM_020660.2;RP11-814P5.1,upstream_gene_variant,,ENST00000503496,;RP11-814P5.1,upstream_gene_variant,,ENST00000558707,;							HIGH	72/966		CXD2_HUMAN			Transcript			.	ENSP00000290374		CCDS10040.1			1	
CDH23	0	LGGM	GRCh37	10	73572367	73572367	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	3	.	.	ENST00000398788.3:c.2790+1G>T		p.X930_splice	ENST00000398788	NM_001171933.1			0	1		UPI0002B831D5	0		ENST00000224721		ENSG00000107736	13733		15			HGNC	-		CDH23		SNV			1				ENST00000224721	protein_coding							T		-/10085								CDH23,splice_donor_variant,,ENST00000224721,NM_022124.5;CDH23,splice_donor_variant,,ENST00000398788,NM_001171933.1,NM_001171934.1;PSAP,downstream_gene_variant,,ENST00000394936,;PSAP,downstream_gene_variant,,ENST00000394934,NM_001042466.1,NM_001042465.1,NM_002778.2;CDH23,splice_donor_variant,,ENST00000475158,;							HIGH	9525/10080					Transcript			.	ENSP00000224721					1	
TNS4	0	LGGM	GRCh37	17	38635925	38635925	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	3	.	.	ENST00000254051.6:c.1910+1G>T		p.X637_splice	ENST00000254051	NM_032865.5			0	1	1	UPI000013CE0F	0		ENST00000254051		ENSG00000131746	24352		14			HGNC	-		TNS4		SNV							ENST00000254051	protein_coding							A		-/4067							YES	TNS4,splice_donor_variant,,ENST00000254051,NM_032865.5;TNS4,upstream_gene_variant,,ENST00000582747,;TNS4,splice_donor_variant,,ENST00000497303,;TNS4,intron_variant,,ENST00000394072,;							HIGH	1910/2148		TENS4_HUMAN			Transcript			.	ENSP00000254051		CCDS11368.1			1	
TCF4	0	LGGM	GRCh37	18	52937061	52937061	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	3	.	.	ENST00000398339.1:c.1228+1G>T		p.X410_splice	ENST00000398339	NM_001243226.1			0	1		UPI000012DA19	0		ENST00000356073		ENSG00000196628	11634		23			HGNC	-		TCF4		SNV			1				ENST00000354452	protein_coding							A		-/8317				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				TCF4,splice_donor_variant,,ENST00000354452,NM_001083962.1;TCF4,splice_donor_variant,,ENST00000356073,NM_003199.2;TCF4,splice_donor_variant,,ENST00000537578,NM_001243227.1;TCF4,splice_donor_variant,,ENST00000564403,NM_001243228.1;TCF4,splice_donor_variant,,ENST00000568740,;TCF4,splice_donor_variant,,ENST00000540999,;TCF4,splice_donor_variant,,ENST00000398339,NM_001243226.1;TCF4,splice_donor_variant,,ENST00000457482,;TCF4,splice_donor_variant,,ENST00000565018,;TCF4,splice_donor_variant,,ENST00000568673,;TCF4,splice_donor_variant,,ENST00000564999,;TCF4,splice_donor_variant,,ENST00000543082,NM_001243231.1;TCF4,splice_donor_variant,,ENST00000544241,NM_001243232.1;TCF4,splice_donor_variant,,ENST00000561992,NM_001243233.1;TCF4,splice_donor_variant,,ENST00000566279,;TCF4,splice_donor_variant,,ENST00000566286,NM_001243230.1;TCF4,splice_donor_variant,,ENST00000567880,;TCF4,splice_donor_variant,,ENST00000537856,;TCF4,splice_donor_variant,,ENST00000564228,;TCF4,splice_donor_variant,,ENST00000570287,NM_001243235.1,NM_001243234.1;TCF4,splice_donor_variant,,ENST00000570177,;TCF4,splice_donor_variant,,ENST00000561831,NM_001243236.1;TCF4,splice_donor_variant,,ENST00000570146,;TCF4,downstream_gene_variant,,ENST00000568169,;TCF4,downstream_gene_variant,,ENST00000566514,;TCF4,downstream_gene_variant,,ENST00000569012,;TCF4,splice_donor_variant,,ENST00000563760,;TCF4,splice_donor_variant,,ENST00000562680,;TCF4,non_coding_transcript_exon_variant,,ENST00000563686,;							HIGH	922/2004		ITF2_HUMAN			Transcript			.	ENSP00000348374		CCDS11960.1			1	
EDC4	0	LGGM	GRCh37	16	67911435	67911435	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000358933.5:c.665G>T	p.Arg222Leu	p.R222L	ENST00000358933	NM_014329.4	222	cGg/cTg	0	1	1	UPI0000141377	0	NA	ENST00000358933		ENSG00000038358	17157		32	0.55		HGNC	p.R222L		EDC4		SNV							ENST00000358933	protein_coding	getma.org/?cm=var&var=hg19,16,67911435,G,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR15598,Superfamily_domains:SSF50978		R/L		T	neutral	904/4800		getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=201&re=289&var=R222L	tolerated(0.07)				YES	EDC4,missense_variant,p.Arg222Leu,ENST00000358933,NM_014329.4;NUTF2,downstream_gene_variant,,ENST00000219169,NM_005796.1;EDC4,upstream_gene_variant,,ENST00000577105,;EDC4,upstream_gene_variant,,ENST00000573985,;CTC-479C5.10,upstream_gene_variant,,ENST00000572067,;AC040162.1,upstream_gene_variant,,ENST00000408599,;EDC4,non_coding_transcript_exon_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000536072,;NUTF2,downstream_gene_variant,,ENST00000587481,;EDC4,upstream_gene_variant,,ENST00000575514,;EDC4,upstream_gene_variant,,ENST00000577028,;EDC4,upstream_gene_variant,,ENST00000576972,;EDC4,upstream_gene_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575507,;EDC4,upstream_gene_variant,,ENST00000572724,;							MODERATE	665/4206	R222L	EDC4_HUMAN			Transcript		benign(0.14)	.	ENSP00000351811		CCDS10849.1			1	
TARS2	0	LGGM	GRCh37	1	150476842	150476842	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000369064.3:c.1649G>T	p.Arg550Leu	p.R550L	ENST00000369064	NM_025150.4	550	cGg/cTg	0	1	1	UPI00000492D1	0	getma.org/pdb.php?prot=SYTM_HUMAN&from=513&to=614&var=R550L	ENST00000369064		ENSG00000143374	30740		16	3.815		HGNC	p.R275L		TARS2		SNV			1				ENST00000369051	protein_coding	getma.org/?cm=var&var=hg19,1,150476842,G,T&fts=all		PROSITE_profiles:PS50862,HAMAP:MF_00184,hmmpanther:PTHR11451:SF13,hmmpanther:PTHR11451,TIGRFAM_domain:TIGR00418,Gene3D:3.30.930.10,Superfamily_domains:SSF55681,Prints_domain:PR01047		R/L		T	high	1683/2729		getma.org/?cm=msa&ty=f&p=SYTM_HUMAN&rb=513&re=614&var=R550L	deleterious(0)	Q9H045_HUMAN			YES	TARS2,missense_variant,p.Arg550Leu,ENST00000369064,NM_025150.4;TARS2,missense_variant,p.Arg468Leu,ENST00000606933,NM_001271895.1;TARS2,missense_variant,p.Arg420Leu,ENST00000369054,NM_001271896.1;ECM1,upstream_gene_variant,,ENST00000369047,NM_004425.3;ECM1,upstream_gene_variant,,ENST00000369049,NM_001202858.1;ECM1,upstream_gene_variant,,ENST00000346569,NM_022664.2;TARS2,non_coding_transcript_exon_variant,,ENST00000463555,;TARS2,non_coding_transcript_exon_variant,,ENST00000480070,;TARS2,non_coding_transcript_exon_variant,,ENST00000483046,;ECM1,upstream_gene_variant,,ENST00000470432,;ECM1,upstream_gene_variant,,ENST00000496744,;ECM1,upstream_gene_variant,,ENST00000498579,;ECM1,upstream_gene_variant,,ENST00000490346,;TARS2,3_prime_UTR_variant,,ENST00000369051,;TARS2,3_prime_UTR_variant,,ENST00000467982,;							MODERATE	1649/2157	R550L	SYTM_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000358060		CCDS952.1			1	
ALOX15	0	LGGM	GRCh37	17	4535308	4535308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000570836.1:c.1685G>T	p.Arg562Leu	p.R562L	ENST00000570836		562	cGg/cTg	0	1		UPI000013E118	0	getma.org/pdb.php?prot=LOX15_HUMAN&from=210&to=654&var=R562L	ENST00000293761		ENSG00000161905	433		12	3.47		HGNC	p.R523L		ALOX15		SNV							ENST00000574640	protein_coding	getma.org/?cm=var&var=hg19,17,4535308,C,A&fts=all		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF33,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484		R/L		A	medium	1699/2677		getma.org/?cm=msa&ty=f&p=LOX15_HUMAN&rb=210&re=654&var=R562L	deleterious(0.02)	I3L175_HUMAN,D3DTK1_HUMAN				ALOX15,missense_variant,p.Arg562Leu,ENST00000570836,;ALOX15,missense_variant,p.Arg562Leu,ENST00000293761,NM_001140.3;ALOX15,missense_variant,p.Arg523Leu,ENST00000574640,;ALOX15,missense_variant,p.Arg584Leu,ENST00000545513,;							MODERATE	1685/1989	R562L	LOX15_HUMAN			Transcript		benign(0.19)	.	ENSP00000293761		CCDS11049.1			1	
ANXA2	0	LGGM	GRCh37	15	60674578	60674578	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	3	.	.	ENST00000332680.4:c.165G>C	p.Arg55=	p.R55=	ENST00000332680	NM_001002858.2	55	cgG/cgC	0	1		UPI0000161B7A	0		ENST00000396024		ENSG00000182718	537		30			HGNC	p.R37R		ANXA2		SNV							ENST00000560367	protein_coding			Superfamily_domains:SSF47874,Gene3D:1.10.220.10,hmmpanther:PTHR10502:SF18,hmmpanther:PTHR10502		R		G		271/1676				H0YNB8_HUMAN,H0YNA0_HUMAN,H0YN52_HUMAN,H0YN42_HUMAN,H0YN28_HUMAN,H0YMT9_HUMAN,H0YMM1_HUMAN,H0YMD9_HUMAN,H0YMD0_HUMAN,H0YLE2_HUMAN,H0YL33_HUMAN,H0YKZ7_HUMAN,H0YKX9_HUMAN,H0YKV8_HUMAN,H0YKS4_HUMAN,H0YKL9_HUMAN				ANXA2,synonymous_variant,p.=,ENST00000396024,NM_001136015.2;ANXA2,synonymous_variant,p.=,ENST00000332680,NM_001002858.2;ANXA2,synonymous_variant,p.=,ENST00000421017,NM_001002857.1;ANXA2,synonymous_variant,p.=,ENST00000451270,NM_004039.2;ANXA2,synonymous_variant,p.=,ENST00000559818,;ANXA2,synonymous_variant,p.=,ENST00000557906,;ANXA2,synonymous_variant,p.=,ENST00000559780,;ANXA2,synonymous_variant,p.=,ENST00000560367,;ANXA2,synonymous_variant,p.=,ENST00000559467,;ANXA2,synonymous_variant,p.=,ENST00000560165,;ANXA2,synonymous_variant,p.=,ENST00000559350,;ANXA2,synonymous_variant,p.=,ENST00000560468,;ANXA2,synonymous_variant,p.=,ENST00000560389,;ANXA2,synonymous_variant,p.=,ENST00000558986,;ANXA2,synonymous_variant,p.=,ENST00000559956,;ANXA2,synonymous_variant,p.=,ENST00000558169,;ANXA2,synonymous_variant,p.=,ENST00000559370,;ANXA2,synonymous_variant,p.=,ENST00000558558,;ANXA2,synonymous_variant,p.=,ENST00000557904,;ANXA2,intron_variant,,ENST00000558985,;ANXA2,intron_variant,,ENST00000560466,;ANXA2,intron_variant,,ENST00000558132,;ANXA2,intron_variant,,ENST00000559113,;ANXA2,intron_variant,,ENST00000559725,;ANXA2,intron_variant,,ENST00000558998,;ANXA2,non_coding_transcript_exon_variant,,ENST00000557937,;ANXA2,intron_variant,,ENST00000561445,;ANXA2,synonymous_variant,p.=,ENST00000560014,;ANXA2,synonymous_variant,p.=,ENST00000561022,;ANXA2,synonymous_variant,p.=,ENST00000558503,;ANXA2,non_coding_transcript_exon_variant,,ENST00000504475,;ANXA2,non_coding_transcript_exon_variant,,ENST00000559559,;ANXA2,downstream_gene_variant,,ENST00000560546,;							LOW	111/1020		ANXA2_HUMAN			Transcript			.	ENSP00000379342		CCDS10175.1			1	
LY6E	0	LGGM	GRCh37	8	144103029	144103029	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	3	.	.	ENST00000520466.1:c.219G>T	p.Pro73=	p.P73=	ENST00000520466		73	ccG/ccT	0	1		UPI00000374A7	0		ENST00000292494		ENSG00000160932	6727		31			HGNC	p.P73P	rs777002102	LY6E		SNV							ENST00000292494	protein_coding			hmmpanther:PTHR16983:SF13,hmmpanther:PTHR16983,Gene3D:2.10.60.10,Pfam_domain:PF00021,SMART_domains:SM00134,Superfamily_domains:SSF57302		P		T		381/1181	1.50E-05			Q7Z787_HUMAN				LY6E,synonymous_variant,p.=,ENST00000520466,;LY6E,synonymous_variant,p.=,ENST00000521699,;LY6E,synonymous_variant,p.=,ENST00000292494,NM_002346.2;LY6E,synonymous_variant,p.=,ENST00000429120,NM_001127213.1;LY6E,synonymous_variant,p.=,ENST00000522024,;LY6E,synonymous_variant,p.=,ENST00000522971,;LY6E,synonymous_variant,p.=,ENST00000521003,;LY6E,3_prime_UTR_variant,,ENST00000517503,;LY6E,3_prime_UTR_variant,,ENST00000521182,;LY6E,3_prime_UTR_variant,,ENST00000519546,;LY6E,3_prime_UTR_variant,,ENST00000519611,;LY6E,3_prime_UTR_variant,,ENST00000522528,;LY6E,3_prime_UTR_variant,,ENST00000520531,;LY6E,intron_variant,,ENST00000523847,;RP11-273G15.2,upstream_gene_variant,,ENST00000502167,;RP11-273G15.2,upstream_gene_variant,,ENST00000517833,;RP11-273G15.2,upstream_gene_variant,,ENST00000522060,;RP11-273G15.2,upstream_gene_variant,,ENST00000518831,;LY6E,upstream_gene_variant,,ENST00000519615,;							LOW	219/396		LY6E_HUMAN			Transcript			.	ENSP00000292494	8.24E-06	CCDS6394.1			1	
HMCN2	0	LGGM	GRCh37	9	133298092	133298092	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000428715.1:c.490C>A	p.Arg164Ser	p.R164S	ENST00000428715		164	Cgc/Agc	0	1	1	UPI0001881428	0	getma.org/pdb.php?prot=HMCN2_HUMAN&from=4396&to=4583&var=R4440S	ENST00000428715		ENSG00000148357	21293		24	-1.845		HGNC	p.R164S		HMCN2		SNV							ENST00000428715	protein_coding	getma.org/?cm=var&var=hg19,9,133298092,C,A&fts=all		Gene3D:2.40.155.10,Pfam_domain:PF07474,PROSITE_profiles:PS50993,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF154,SMART_domains:SM00682,Superfamily_domains:SSF54511		R/S		A	neutral	491/2801		getma.org/?cm=msa&ty=f&p=HMCN2_HUMAN&rb=4396&re=4583&var=R4440S	tolerated(0.99)	H0Y3X1_HUMAN			YES	HMCN2,missense_variant,p.Arg164Ser,ENST00000428715,;HMCN2,downstream_gene_variant,,ENST00000487727,;							MODERATE	490/2370	R4440S				Transcript		benign(0.001)	.	ENSP00000387564					1	
AL031666.2	0	LGGM	GRCh37	20	45947786	45947786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000599904.1:c.422C>A	p.Pro141Gln	p.P141Q	ENST00000599904		141	cCg/cAg	0	1	1	UPI00000721B9	0		ENST00000599904		ENSG00000267882			18			Clone_based_ensembl_gene	p.P141Q		AL031666.2		SNV							ENST00000599904	protein_coding					P/Q		A		541/2222				Q96N05_HUMAN			YES	AL031666.2,missense_variant,p.Pro141Gln,ENST00000599904,;ZMYND8,intron_variant,,ENST00000311275,NM_001281783.1,NM_001281778.1,NM_001281772.1;ZMYND8,intron_variant,,ENST00000360911,NM_183048.1,NM_012408.3;ZMYND8,intron_variant,,ENST00000262975,NM_001281774.1;ZMYND8,intron_variant,,ENST00000396281,;ZMYND8,intron_variant,,ENST00000471951,NM_183047.1,NM_001281775.1;ZMYND8,intron_variant,,ENST00000536340,;ZMYND8,intron_variant,,ENST00000355972,NM_001281773.1;ZMYND8,intron_variant,,ENST00000352431,;ZMYND8,intron_variant,,ENST00000458360,NM_001281771.1;ZMYND8,intron_variant,,ENST00000461685,;ZMYND8,intron_variant,,ENST00000446994,;ZMYND8,intron_variant,,ENST00000372023,NM_001281782.1;ZMYND8,intron_variant,,ENST00000540497,NM_001281784.1;ZMYND8,intron_variant,,ENST00000435836,;ZMYND8,intron_variant,,ENST00000446894,;ZMYND8,intron_variant,,ENST00000441977,;AL031666.1,upstream_gene_variant,,ENST00000577832,;ZMYND8,non_coding_transcript_exon_variant,,ENST00000468376,;							MODERATE	422/573					Transcript		unknown(0)	.	ENSP00000469204					1	
OR2Y1	0	LGGM	GRCh37	5	180166898	180166898	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000307832.2:c.161G>T	p.Arg54Leu	p.R54L	ENST00000307832	NM_001001657.1	54	cGg/cTg	0	1	1	UPI0000041BCE	0	NA	ENST00000307832		ENSG00000174339	14837		32	2.39		HGNC	p.R54L		OR2Y1		SNV							ENST00000307832	protein_coding	getma.org/?cm=var&var=hg19,5,180166898,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF178,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R/L		A	medium	202/1058		getma.org/?cm=msa&ty=f&p=OR2Y1_HUMAN&rb=1&re=138&var=R54L	deleterious(0.03)				YES	OR2Y1,missense_variant,p.Arg54Leu,ENST00000307832,NM_001001657.1;							MODERATE	161/936	R54L	OR2Y1_HUMAN			Transcript		possibly_damaging(0.614)	.	ENSP00000312403		CCDS34323.1			1	
C9orf114	0	LGGM	GRCh37	9	131589467	131589467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	3	.	.	ENST00000361256.5:c.212G>T	p.Arg71Leu	p.R71L	ENST00000361256	NM_016390.3	71	cGg/cTg	0	1	1	UPI0000140A15	0	NA	ENST00000361256		ENSG00000198917	26933	8.75E-05	15	2.125		HGNC	p.R71L	rs777629140,COSM3654733	C9orf114		SNV						0,1	ENST00000361256	protein_coding	getma.org/?cm=var&var=hg19,9,131589467,C,A&fts=all		hmmpanther:PTHR12150,hmmpanther:PTHR12150:SF13,Gene3D:3.40.1280.10		R/L		A	medium	253/4286		getma.org/?cm=msa&ty=f&p=CI114_HUMAN&rb=1&re=73&var=R71L	tolerated(0.06)				YES	C9orf114,missense_variant,p.Arg71Leu,ENST00000361256,NM_016390.3;ENDOG,downstream_gene_variant,,ENST00000372642,NM_004435.2;C9orf114,upstream_gene_variant,,ENST00000467582,;C9orf114,non_coding_transcript_exon_variant,,ENST00000466556,;C9orf114,non_coding_transcript_exon_variant,,ENST00000467396,;C9orf114,upstream_gene_variant,,ENST00000480366,;					0,1		MODERATE	212/1131	R71L	CI114_HUMAN			Transcript		possibly_damaging(0.565)	.	ENSP00000354812	8.24E-06	CCDS6913.1			1	
NFATC4	0	LGGM	GRCh37	14	24839751	24839751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	3	.	.	ENST00000413692.2:c.1336C>A	p.Pro446Thr	p.P446T	ENST00000413692	NM_001198967.1	446	Cca/Aca	0	1		UPI000013CCB1	0	NA	ENST00000250373		ENSG00000100968	7778		8	1.495		HGNC	p.P371T		NFATC4		SNV							ENST00000556169	protein_coding	getma.org/?cm=var&var=hg19,14,24839751,C,A&fts=all		hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9		P/T		A	low	1288/4749		getma.org/?cm=msa&ty=f&p=NFAC4_HUMAN&rb=201&re=400&var=P383T	tolerated(0.27)	G3V4K1_HUMAN				NFATC4,missense_variant,p.Pro446Thr,ENST00000413692,NM_001198967.1,NM_001136022.1;NFATC4,missense_variant,p.Pro415Thr,ENST00000539237,;NFATC4,missense_variant,p.Pro313Thr,ENST00000557451,;NFATC4,missense_variant,p.Pro371Thr,ENST00000422617,NM_001288802.1;NFATC4,missense_variant,p.Pro396Thr,ENST00000424781,;NFATC4,missense_variant,p.Pro383Thr,ENST00000553708,;NFATC4,missense_variant,p.Pro383Thr,ENST00000250373,NM_004554.4;NFATC4,missense_variant,p.Pro371Thr,ENST00000555453,;NFATC4,missense_variant,p.Pro383Thr,ENST00000554050,NM_001198965.1;NFATC4,missense_variant,p.Pro313Thr,ENST00000554344,;NFATC4,missense_variant,p.Pro415Thr,ENST00000556279,;NFATC4,missense_variant,p.Pro446Thr,ENST00000554591,;NFATC4,missense_variant,p.Pro396Thr,ENST00000555590,;NFATC4,missense_variant,p.Pro313Thr,ENST00000553879,NM_001198966.1;NFATC4,missense_variant,p.Pro313Thr,ENST00000554661,;NFATC4,missense_variant,p.Pro415Thr,ENST00000553469,;NFATC4,missense_variant,p.Pro371Thr,ENST00000556169,;NFATC4,missense_variant,p.Pro396Thr,ENST00000554966,;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,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000554903,;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,;							MODERATE	1147/2709	P383T	NFAC4_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000250373		CCDS9629.1			1	
SLC47A2	0	LGGM	GRCh37	17	19584709	19584709	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	3	.	.	ENST00000325411.5:c.1471C>A	p.Arg491=	p.R491=	ENST00000325411	NM_152908.3	491	Cgg/Agg	0	1	1	UPI0000190813	0		ENST00000325411		ENSG00000180638	26439		10			HGNC	p.R469R		SLC47A2		SNV							ENST00000350657	protein_coding			hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF81		R		T		1522/2258							YES	SLC47A2,synonymous_variant,p.=,ENST00000350657,NM_001099646.1,NM_001256663.1;SLC47A2,synonymous_variant,p.=,ENST00000325411,NM_152908.3;ALDH3A2,downstream_gene_variant,,ENST00000176643,;ALDH3A2,downstream_gene_variant,,ENST00000339618,NM_001031806.1;ALDH3A2,downstream_gene_variant,,ENST00000395575,;ALDH3A2,downstream_gene_variant,,ENST00000579855,NM_000382.2;ALDH3A2,downstream_gene_variant,,ENST00000581518,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000463318,;SLC47A2,3_prime_UTR_variant,,ENST00000574239,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000467609,;ALDH3A2,downstream_gene_variant,,ENST00000472059,;ALDH3A2,downstream_gene_variant,,ENST00000573505,;							LOW	1471/1809		S47A2_HUMAN			Transcript			.	ENSP00000326671		CCDS11211.1			1	
CDK9	0	LGGM	GRCh37	9	130551734	130551734	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	3	.	.	ENST00000373264.4:c.1031G>T	p.Arg344Leu	p.R344L	ENST00000373264	NM_001261.3	344	cGg/cTg	0	1	1	UPI000013D041	0	getma.org/pdb.php?prot=CDK9_HUMAN&from=316&to=372&var=R344L	ENST00000373264		ENSG00000136807	1780		29	1.525		HGNC	p.R344L		CDK9		SNV							ENST00000373264	protein_coding	getma.org/?cm=var&var=hg19,9,130551734,G,T&fts=all		hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF158		R/L		T	low	1131/2463		getma.org/?cm=msa&ty=f&p=CDK9_HUMAN&rb=316&re=372&var=R344L	deleterious(0.01)				YES	CDK9,missense_variant,p.Arg461Leu,ENST00000373265,;CDK9,missense_variant,p.Arg344Leu,ENST00000373264,NM_001261.3;CDK9,downstream_gene_variant,,ENST00000421939,;MIR3960,downstream_gene_variant,,ENST00000583311,;CDK9,downstream_gene_variant,,ENST00000480353,;CDK9,downstream_gene_variant,,ENST00000491521,;CDK9,downstream_gene_variant,,ENST00000498339,;							MODERATE	1031/1119	R344L	CDK9_HUMAN			Transcript		benign(0.003)	.	ENSP00000362361		CCDS6879.1			1	
ATXN2	0	LGGM	GRCh37	12	111923519	111923519	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000377617.3:c.2935C>A	p.Gln979Lys	p.Q979K	ENST00000377617	NM_002973.3	979	Caa/Aaa	0	1	1	UPI0000DBEEFC	0	NA	ENST00000377617		ENSG00000204842	10555		22	1.65		HGNC	p.Q690K		ATXN2		SNV			1				ENST00000535949	protein_coding	getma.org/?cm=var&var=hg19,12,111923519,G,T&fts=all		hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11		Q/K		T	low	3097/4702		getma.org/?cm=msa&ty=f&p=ATX2_HUMAN&rb=927&re=1126&var=Q979K		D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN			YES	ATXN2,missense_variant,p.Gln979Lys,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Gln979Lys,ENST00000550104,;ATXN2,missense_variant,p.Gln819Lys,ENST00000608853,;ATXN2,missense_variant,p.Gln714Lys,ENST00000389153,;ATXN2,missense_variant,p.Gln714Lys,ENST00000542287,;ATXN2,missense_variant,p.Gln690Lys,ENST00000535949,;ATXN2,missense_variant,p.Gln118Lys,ENST00000389154,;ATXN2,downstream_gene_variant,,ENST00000492467,;AC002395.1,downstream_gene_variant,,ENST00000581907,;ATXN2,missense_variant,p.Gln900Lys,ENST00000483311,;ATXN2,missense_variant,p.Gln73Lys,ENST00000551755,;ATXN2,splice_region_variant,,ENST00000495342,;ATXN2,splice_region_variant,,ENST00000552323,;ATXN2,downstream_gene_variant,,ENST00000546483,;							MODERATE	2935/3942	Q979K	ATX2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000366843		CCDS31902.1			1	
TTC7B	0	LGGM	GRCh37	14	91252649	91252649	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000328459.6:c.145G>T	p.Gly49Trp	p.G49W	ENST00000328459	NM_001010854.1	49	Ggg/Tgg	0	1	1	UPI00001FD9F0	0	NA	ENST00000328459		ENSG00000165914	19858		12	2.125		HGNC	p.G49W		TTC7B		SNV							ENST00000328459	protein_coding	getma.org/?cm=var&var=hg19,14,91252649,C,A&fts=all		hmmpanther:PTHR23083:SF365,hmmpanther:PTHR23083		G/W		A	medium	267/3433		getma.org/?cm=msa&ty=f&p=TTC7B_HUMAN&rb=1&re=200&var=G49W	deleterious(0)	G3V3E4_HUMAN,B3KX34_HUMAN			YES	TTC7B,missense_variant,p.Gly49Trp,ENST00000357056,;TTC7B,missense_variant,p.Gly49Trp,ENST00000328459,NM_001010854.1;TTC7B,5_prime_UTR_variant,,ENST00000553948,;TTC7B,upstream_gene_variant,,ENST00000557766,;							MODERATE	145/2532	G49W	TTC7B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336127		CCDS32140.1			1	
CAD	0	LGGM	GRCh37	2	27445175	27445175	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000264705.4:c.466C>A	p.Arg156Ser	p.R156S	ENST00000264705	NM_004341.3	156	Cgc/Agc	0	1	1	UPI000013D558	0	NA	ENST00000264705		ENSG00000084774	1424		17	2.645		HGNC	p.R156S		CAD		SNV							ENST00000403525	protein_coding	getma.org/?cm=var&var=hg19,2,27445175,C,A&fts=all		Gene3D:3.40.50.880,HAMAP:MF_01209,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF5,Superfamily_domains:SSF52317,TIGRFAM_domain:TIGR01368		R/S		A	medium	628/7265		getma.org/?cm=msa&ty=f&p=PYR1_HUMAN&rb=140&re=178&var=R156S	tolerated(0.05)	Q53SZ4_HUMAN,Q53SY7_HUMAN,G1UI39_HUMAN			YES	CAD,missense_variant,p.Arg156Ser,ENST00000264705,NM_004341.3;CAD,missense_variant,p.Arg156Ser,ENST00000403525,;CAD,upstream_gene_variant,,ENST00000491891,;							MODERATE	466/6678	R156S	PYR1_HUMAN			Transcript		benign(0.186)	.	ENSP00000264705		CCDS1742.1			1	
SIPA1L3	0	LGGM	GRCh37	19	38673349	38673349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000222345.6:c.4399C>A	p.Pro1467Thr	p.P1467T	ENST00000222345	NM_015073.1	1467	Cca/Aca	0	1	1	UPI00001D8160	0	NA	ENST00000222345		ENSG00000105738	23801		21	-0.145		HGNC	p.P80T		SIPA1L3		SNV							ENST00000601054	protein_coding	getma.org/?cm=var&var=hg19,19,38673349,C,A&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15		P/T		A	neutral	4908/7987		getma.org/?cm=msa&ty=f&p=SI1L3_HUMAN&rb=1429&re=1476&var=P1467T	tolerated(1)	Q8IUV1_HUMAN			YES	SIPA1L3,missense_variant,p.Pro1467Thr,ENST00000222345,NM_015073.1;SIPA1L3,missense_variant,p.Pro80Thr,ENST00000601054,;CTB-102L5.7,upstream_gene_variant,,ENST00000594299,;SIPA1L3,non_coding_transcript_exon_variant,,ENST00000595495,;							MODERATE	4399/5346	P1467T	SI1L3_HUMAN			Transcript		benign(0.003)	.	ENSP00000222345		CCDS33007.1			1	
MANSC1	0	LGGM	GRCh37	12	12483417	12483417	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000535902.1:c.840G>T	p.Thr280=	p.T280=	ENST00000535902		280	acG/acT	0	1	1	UPI0000049E05	0		ENST00000535902		ENSG00000111261	25505		22			HGNC	p.T246T		MANSC1		SNV							ENST00000396349	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16021:SF7,hmmpanther:PTHR16021		T		A		1404/2623				F5H6G8_HUMAN,F5H3M3_HUMAN			YES	MANSC1,synonymous_variant,p.=,ENST00000535902,;MANSC1,synonymous_variant,p.=,ENST00000396349,NM_018050.2;MANSC1,synonymous_variant,p.=,ENST00000545735,;							LOW	840/1296		MANS1_HUMAN			Transcript			.	ENSP00000438205		CCDS8648.1			1	
FRMD4A	0	LGGM	GRCh37	10	13708185	13708185	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	3	.	.	ENST00000357447.2:c.1515G>C	p.Lys505Asn	p.K505N	ENST00000357447	NM_018027.3	505	aaG/aaC	0	1	1	UPI0000366665	0	NA	ENST00000357447		ENSG00000151474	25491		43	1.79		HGNC	p.K505N		FRMD4A		SNV							ENST00000357447	protein_coding	getma.org/?cm=var&var=hg19,10,13708185,C,G&fts=all		hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF12		K/N		G	low	1884/6815		getma.org/?cm=msa&ty=f&p=FRM4A_HUMAN&rb=493&re=692&var=K505N	deleterious(0.01)	F8WAN4_HUMAN			YES	FRMD4A,missense_variant,p.Lys505Asn,ENST00000357447,NM_018027.3;FRMD4A,missense_variant,p.Lys490Asn,ENST00000358621,;FRMD4A,missense_variant,p.Lys505Asn,ENST00000378503,;FRMD4A,downstream_gene_variant,,ENST00000264546,;RP11-295P9.3,intron_variant,,ENST00000593351,;							MODERATE	1515/3120	K505N	FRM4A_HUMAN			Transcript		benign(0.329)	.	ENSP00000350032		CCDS7101.1			1	
NDRG3	0	LGGM	GRCh37	20	35283210	35283210	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000349004.1:c.947-1106G>T		*316*	ENST00000349004	NM_032013.3			0	1	1	UPI000012FEDF	0		ENST00000349004		ENSG00000101079	14462		16			HGNC	p.E327X		NDRG3		SNV							ENST00000373803	protein_coding							A		-/2964							YES	NDRG3,stop_gained,p.Glu327Ter,ENST00000373803,;NDRG3,intron_variant,,ENST00000349004,NM_032013.3;NDRG3,intron_variant,,ENST00000359675,NM_022477.3;NDRG3,intron_variant,,ENST00000373773,;NDRG3,intron_variant,,ENST00000540765,;							MODIFIER	-/1128		NDRG3_HUMAN			Transcript			.	ENSP00000345292		CCDS13285.1			1	
SATB1	0	LGGM	GRCh37	3	18436373	18436373	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000417717.2:c.787G>T	p.Gly263Cys	p.G263C	ENST00000417717	NM_001195470.1	263	Ggc/Tgc	0	1		UPI0000000C35	0	NA	ENST00000338745		ENSG00000182568	10541		12	1.245		HGNC	p.G263C		SATB1		SNV							ENST00000417717	protein_coding	getma.org/?cm=var&var=hg19,3,18436373,C,A&fts=all		hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14		G/C		A	low	2522/7810		getma.org/?cm=msa&ty=f&p=SATB1_HUMAN&rb=201&re=361&var=G263C	deleterious(0.01)	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN				SATB1,missense_variant,p.Gly263Cys,ENST00000338745,NM_002971.4;SATB1,missense_variant,p.Gly263Cys,ENST00000417717,NM_001195470.1;SATB1,missense_variant,p.Gly263Cys,ENST00000454909,NM_001131010.2;SATB1,downstream_gene_variant,,ENST00000440737,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,downstream_gene_variant,,ENST00000475083,;							MODERATE	787/2292	G263C	SATB1_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000341024		CCDS2631.1			1	
ASPH	0	LGGM	GRCh37	8	62416019	62416019	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	3	.	.	ENST00000379454.4:c.2176G>T	p.Glu726Ter	p.E726*	ENST00000379454	NM_004318.3	726	Gag/Tag	0	1	1	UPI0000161BFE	0	NA	ENST00000379454		ENSG00000198363	757		20	0		HGNC	p.E697X		ASPH		SNV			1				ENST00000541428	protein_coding	getma.org/?cm=var&var=hg19,8,62416019,C,A&fts=all		Gene3D:2.60.120.330,Pfam_domain:PF05118,hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF20,Superfamily_domains:SSF51197		E/*		A	NA	2364/4595		NA					YES	ASPH,stop_gained,p.Glu697Ter,ENST00000541428,NM_001164750.1;ASPH,stop_gained,p.Glu726Ter,ENST00000379454,NM_004318.3;CLVS1,downstream_gene_variant,,ENST00000519846,;CLVS1,downstream_gene_variant,,ENST00000325897,NM_173519.2;CLVS1,downstream_gene_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000520712,;CLVS1,downstream_gene_variant,,ENST00000518858,;							HIGH	2176/2277	E726*	ASPH_HUMAN			Transcript			.	ENSP00000368767		CCDS34898.1			1	
FAM129C	0	LGGM	GRCh37	19	17644477	17644477	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000335393.4:c.487C>A	p.Arg163Ser	p.R163S	ENST00000335393	NM_173544.4	163	Cgc/Agc	0	1	1	UPI0000246FFF	0	NA	ENST00000335393		ENSG00000167483	24130		22	0.755		HGNC	p.R163S		FAM129C		SNV							ENST00000300971	protein_coding	getma.org/?cm=var&var=hg19,19,17644477,C,A&fts=all		hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF4,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/S		A	neutral	625/2508		getma.org/?cm=msa&ty=f&p=NIBL2_HUMAN&rb=1&re=619&var=R163S	tolerated(0.42)	M0R0E0_HUMAN,B4DNU3_HUMAN			YES	FAM129C,missense_variant,p.Arg163Ser,ENST00000335393,NM_173544.4;FAM129C,missense_variant,p.Arg163Ser,ENST00000595684,;FAM129C,missense_variant,p.Arg163Ser,ENST00000332386,NM_001098524.1;FAM129C,missense_variant,p.Arg132Ser,ENST00000601861,;FAM129C,missense_variant,p.Arg163Ser,ENST00000352727,;FAM129C,missense_variant,p.Arg132Ser,ENST00000599164,;FAM129C,missense_variant,p.Arg163Ser,ENST00000300971,;FAM129C,missense_variant,p.Arg132Ser,ENST00000599124,;FAM129C,missense_variant,p.Arg109Ser,ENST00000600871,;FAM129C,5_prime_UTR_variant,,ENST00000449408,;FAM129C,non_coding_transcript_exon_variant,,ENST00000597887,;FAM129C,missense_variant,p.Arg132Ser,ENST00000600519,;FAM129C,non_coding_transcript_exon_variant,,ENST00000599819,;							MODERATE	487/2094	R163S	NIBL2_HUMAN			Transcript		benign(0.259)	.	ENSP00000335040		CCDS12362.1			1	
S100PBP	0	LGGM	GRCh37	1	33318687	33318687	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	3	.	.	ENST00000373475.5:c.1032G>T	p.Ser344=	p.S344=	ENST00000373475	NM_022753.3	344	tcG/tcT	0	1	1	UPI0000070449	0		ENST00000373475		ENSG00000116497	25768		31			HGNC	p.S344S		S100PBP		SNV							ENST00000373476	protein_coding			Pfam_domain:PF15427,hmmpanther:PTHR14455:SF0,hmmpanther:PTHR14455		S		T		1286/4318				E9PSA0_HUMAN,E9PMK1_HUMAN,E9PL86_HUMAN,E9PIZ7_HUMAN,E9PIY5_HUMAN			YES	S100PBP,synonymous_variant,p.=,ENST00000373475,NM_022753.3;S100PBP,synonymous_variant,p.=,ENST00000373476,NM_001256121.1;S100PBP,non_coding_transcript_exon_variant,,ENST00000527692,;S100PBP,non_coding_transcript_exon_variant,,ENST00000524535,;S100PBP,non_coding_transcript_exon_variant,,ENST00000525203,;S100PBP,non_coding_transcript_exon_variant,,ENST00000475486,;							LOW	1032/1227		S1PBP_HUMAN			Transcript			.	ENSP00000362574		CCDS30666.1			1	
KDM1B	0	LGGM	GRCh37	6	18207678	18207678	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	3	.	.	ENST00000297792.5:c.1013G>T	p.Gly338Val	p.G338V	ENST00000297792		338	gGt/gTt	0	1	1	UPI000023739E	0	getma.org/pdb.php?prot=KDM1B_HUMAN&from=392&to=820&var=G570V	ENST00000297792		ENSG00000165097	21577		27	3.675		HGNC	p.G570V		KDM1B		SNV							ENST00000388870	protein_coding	getma.org/?cm=var&var=hg19,6,18207678,G,T&fts=all		hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Gene3D:3.90.660.10,Pfam_domain:PF01593,Superfamily_domains:SSF51905		G/V		T	high	1190/3811		getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=392&re=820&var=G570V	deleterious(0)	Q08EI0_HUMAN			YES	KDM1B,missense_variant,p.Gly570Val,ENST00000388870,;KDM1B,missense_variant,p.Gly338Val,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Gly338Val,ENST00000297792,;KDM1B,missense_variant,p.Gly387Val,ENST00000449850,;KDM1B,intron_variant,,ENST00000546309,;							MODERATE	1013/1773	G570V	KDM1B_HUMAN			Transcript		unknown(0)	.	ENSP00000297792		CCDS34343.1			1	
SERPINA11	0	LGGM	GRCh37	14	94914723	94914723	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	3	.	.	ENST00000334708.3:c.389G>C	p.Ser130Thr	p.S130T	ENST00000334708	NM_001080451.1	130	aGc/aCc	0	1	1	UPI000015DA3A	0	getma.org/pdb.php?prot=SPA11_HUMAN&from=52&to=419&var=S130T	ENST00000334708		ENSG00000186910	19193		46	0.805		HGNC	p.S130T		SERPINA11		SNV							ENST00000334708	protein_coding	getma.org/?cm=var&var=hg19,14,94914723,C,G&fts=all		Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF154,SMART_domains:SM00093,Superfamily_domains:SSF56574		S/T		G	low	454/1476		getma.org/?cm=msa&ty=f&p=SPA11_HUMAN&rb=52&re=419&var=S130T	deleterious(0.05)				YES	SERPINA11,missense_variant,p.Ser130Thr,ENST00000334708,NM_001080451.1;RP11-349I1.2,intron_variant,,ENST00000536735,;							MODERATE	389/1269	S130T	SPA11_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000335024		CCDS32149.1			1	
PLIN5	0	LGGM	GRCh37	19	4523814	4523814	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	3	.	.	ENST00000381848.3:c.1118G>T	p.Trp373Leu	p.W373L	ENST00000381848	NM_001013706.2	373	tGg/tTg	0	1	1	UPI00001D821D	0	NA	ENST00000381848		ENSG00000214456	33196		10	0.805		HGNC	p.W373L		PLIN5		SNV							ENST00000381848	protein_coding	getma.org/?cm=var&var=hg19,19,4523814,C,A&fts=all		Superfamily_domains:0043810,PIRSF_domain:PIRSF036881,hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF9		W/L		A	low	1199/2470		getma.org/?cm=msa&ty=f&p=PLIN5_HUMAN&rb=370&re=463&var=W373L	deleterious(0)				YES	PLIN5,missense_variant,p.Trp373Leu,ENST00000381848,NM_001013706.2;CTB-50L17.14,downstream_gene_variant,,ENST00000586020,;PLIN5,downstream_gene_variant,,ENST00000589728,;							MODERATE	1118/1392	W373L	PLIN5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000371272		CCDS42473.1			1	
DVL2	0	LGGM	GRCh37	17	7130743	7130743	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000005340.5:c.1343C>A	p.Thr448Asn	p.T448N	ENST00000005340	NM_004422.2	448	aCc/aAc	0	1	1	UPI0000000DE9	0	getma.org/pdb.php?prot=DVL2_HUMAN&from=436&to=505&var=T448N	ENST00000005340		ENSG00000004975	3086		19	3.115		HGNC	p.T448N		DVL2		SNV							ENST00000005340	protein_coding	getma.org/?cm=var&var=hg19,17,7130743,G,T&fts=all		Superfamily_domains:SSF46785,SMART_domains:SM00049,Gene3D:1.10.10.10,Pfam_domain:PF00610,hmmpanther:PTHR10878:SF8,hmmpanther:PTHR10878,PROSITE_profiles:PS50186		T/N		T	medium	1626/3018		getma.org/?cm=msa&ty=f&p=DVL2_HUMAN&rb=436&re=505&var=T448N	deleterious(0)	B4E2D6_HUMAN			YES	DVL2,missense_variant,p.Thr448Asn,ENST00000005340,NM_004422.2;DVL2,missense_variant,p.Thr442Asn,ENST00000575458,;DVL2,missense_variant,p.Thr102Asn,ENST00000575086,;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;DVL2,downstream_gene_variant,,ENST00000575756,;ACADVL,downstream_gene_variant,,ENST00000542255,;DVL2,downstream_gene_variant,,ENST00000574143,;ACADVL,downstream_gene_variant,,ENST00000579546,;MIR324,upstream_gene_variant,,ENST00000362183,;DVL2,downstream_gene_variant,,ENST00000574642,;ACADVL,downstream_gene_variant,,ENST00000583074,;DVL2,non_coding_transcript_exon_variant,,ENST00000576840,;DVL2,non_coding_transcript_exon_variant,,ENST00000576285,;DVL2,non_coding_transcript_exon_variant,,ENST00000571745,;ACADVL,downstream_gene_variant,,ENST00000322910,;ACADVL,downstream_gene_variant,,ENST00000578711,;DVL2,downstream_gene_variant,,ENST00000572285,;ACADVL,downstream_gene_variant,,ENST00000579425,;ACADVL,downstream_gene_variant,,ENST00000577191,;ACADVL,downstream_gene_variant,,ENST00000583858,;DVL2,downstream_gene_variant,,ENST00000576949,;ACADVL,downstream_gene_variant,,ENST00000585203,;ACADVL,downstream_gene_variant,,ENST00000583850,;ACADVL,downstream_gene_variant,,ENST00000582379,;ACADVL,downstream_gene_variant,,ENST00000581378,;ACADVL,downstream_gene_variant,,ENST00000578824,;ACADVL,downstream_gene_variant,,ENST00000578319,;ACADVL,downstream_gene_variant,,ENST00000578809,;DVL2,downstream_gene_variant,,ENST00000574591,;DVL2,downstream_gene_variant,,ENST00000576439,;ACADVL,downstream_gene_variant,,ENST00000578033,;DVL2,downstream_gene_variant,,ENST00000577154,;ACADVL,downstream_gene_variant,,ENST00000583848,;ACADVL,downstream_gene_variant,,ENST00000578579,;ACADVL,downstream_gene_variant,,ENST00000579894,;DVL2,downstream_gene_variant,,ENST00000573354,;ACADVL,downstream_gene_variant,,ENST00000579391,;ACADVL,downstream_gene_variant,,ENST00000582450,;							MODERATE	1343/2211	T448N	DVL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000005340		CCDS11091.1			1	
GPRC6A	0	LGGM	GRCh37	6	117130698	117130698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000310357.3:c.277G>T	p.Val93Phe	p.V93F	ENST00000310357	NM_148963.2	93	Gtc/Ttc	0	1	1	UPI000013EFF9	0	getma.org/pdb.php?prot=GPC6A_HUMAN&from=73&to=482&var=V93F	ENST00000310357		ENSG00000173612	18510		32	2.08		HGNC	p.V93F		GPRC6A		SNV							ENST00000530250	protein_coding	getma.org/?cm=var&var=hg19,6,117130698,C,A&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Superfamily_domains:SSF53822		V/F		A	medium	299/2860		getma.org/?cm=msa&ty=f&p=GPC6A_HUMAN&rb=73&re=482&var=V93F	deleterious(0)				YES	GPRC6A,missense_variant,p.Val93Phe,ENST00000310357,NM_148963.2;GPRC6A,missense_variant,p.Val93Phe,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Val93Phe,ENST00000530250,NM_001286354.1;							MODERATE	277/2781	V93F	GPC6A_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000309493		CCDS5112.1			1	
DCAF13	0	LGGM	GRCh37	8	104427599	104427599	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000297579.5:c.381C>A	p.Val127=	p.V127=	ENST00000297579	NM_015420.6	127	gtC/gtA	0	1	1	UPI0000DBEF2A	0		ENST00000297579		ENSG00000164934	24535		19			HGNC	p.V127V		DCAF13		SNV							ENST00000297579	protein_coding					V		A		658/2642							YES	DCAF13,synonymous_variant,p.=,ENST00000297579,NM_015420.6;DCAF13,5_prime_UTR_variant,,ENST00000521716,;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,,ENST00000521999,;DCAF13,upstream_gene_variant,,ENST00000518554,;SLC25A32,upstream_gene_variant,,ENST00000521645,;SLC25A32,upstream_gene_variant,,ENST00000523256,;SLC25A32,upstream_gene_variant,,ENST00000523866,;							LOW	381/1794		DCA13_HUMAN			Transcript			.	ENSP00000297579		CCDS34934.1			1	
MLXIP	0	LGGM	GRCh37	12	122622019	122622019	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000319080.7:c.2036G>T	p.Arg679Leu	p.R679L	ENST00000319080	NM_014938.4_dupl16	679	cGg/cTg	0	1	1	UPI0000D6226F	0		ENST00000319080		ENSG00000175727	17055		21			HGNC	p.R286L		MLXIP		SNV							ENST00000538698	protein_coding			hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23		R/L		T		2168/8427			tolerated(0.08)	F5H321_HUMAN			YES	MLXIP,missense_variant,p.Arg679Leu,ENST00000319080,NM_014938.4_dupl16;MLXIP,missense_variant,p.Arg286Leu,ENST00000538698,;MLXIP,missense_variant,p.Arg150Leu,ENST00000366272,;MLXIP,missense_variant,p.Arg15Leu,ENST00000542417,;MLXIP,downstream_gene_variant,,ENST00000377037,;MLXIP,downstream_gene_variant,,ENST00000535996,;MLXIP,non_coding_transcript_exon_variant,,ENST00000541750,;MLXIP,downstream_gene_variant,,ENST00000539861,;MLXIP,downstream_gene_variant,,ENST00000538061,;							MODERATE	2036/2760		MLXIP_HUMAN			Transcript		benign(0.034)	.	ENSP00000312834					1	
CLUH	0	LGGM	GRCh37	17	2600187	2600187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000570628.2:c.1897G>T	p.Ala633Ser	p.A633S	ENST00000570628		633	Gcc/Tcc	0	1		UPI00004C8042	0	NA	ENST00000435359		ENSG00000132361	29094		7	1.29		HGNC	p.A671S	rs764348573	CLUH	8.06E-05	SNV							ENST00000574426	protein_coding	getma.org/?cm=var&var=hg19,17,2600187,C,A&fts=all		HAMAP:MF_03013,hmmpanther:PTHR12601,hmmpanther:PTHR12601:SF10		A/S		A	low	1983/5224		getma.org/?cm=msa&ty=f&p=K0664_HUMAN&rb=578&re=762&var=A633S	tolerated(0.32)	I3L3A3_HUMAN,I3L350_HUMAN,I3L318_HUMAN				CLUH,missense_variant,p.Ala633Ser,ENST00000570628,;CLUH,missense_variant,p.Ala633Ser,ENST00000435359,NM_015229.3;CLUH,missense_variant,p.Ala633Ser,ENST00000538975,;CLUH,missense_variant,p.Ala574Ser,ENST00000575014,;CLUH,missense_variant,p.Ala671Ser,ENST00000574426,;CLUH,downstream_gene_variant,,ENST00000572129,;CLUH,upstream_gene_variant,,ENST00000574210,;CLUH,upstream_gene_variant,,ENST00000575624,;CLUH,upstream_gene_variant,,ENST00000574166,;CLUH,upstream_gene_variant,,ENST00000573641,;CLUH,upstream_gene_variant,,ENST00000572014,;CLUH,downstream_gene_variant,,ENST00000571539,;							MODERATE	1897/3930	A633S	CLU_HUMAN			Transcript		benign(0.032)	.	ENSP00000388872	8.27E-06	CCDS45572.1			1	
RABL2B	0	LGGM	GRCh37	22	51207255	51207255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000395593.3:c.666G>T	p.Gln222His	p.Q222H	ENST00000395593	NM_001130923.1	222	caG/caT	0	1		UPI00001331E5	0	NA	ENST00000395598		ENSG00000079974	9800		11	1.61		HGNC	p.Q212H		RABL2B		SNV							ENST00000395598	protein_coding	getma.org/?cm=var&var=hg19,22,51207255,C,A&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF263,Low_complexity_(Seg):seg,SMART_domains:SM00176		Q/H		A	low	848/2169		getma.org/?cm=msa&ty=f&p=RBL2B_HUMAN&rb=180&re=228&var=Q212H	tolerated_low_confidence(0.09)	F2Z2T3_HUMAN,C9JFZ0_HUMAN				RABL2B,missense_variant,p.Gln213His,ENST00000395595,NM_001130921.1;RABL2B,missense_variant,p.Gln222His,ENST00000395593,NM_001130923.1,NM_001130920.1;RABL2B,missense_variant,p.Gln212His,ENST00000395598,NM_001130922.1,NM_001003789.1,NM_007081.2,NM_001130919.1;RABL2B,missense_variant,p.Gln213His,ENST00000354869,;RABL2B,missense_variant,p.Gln149His,ENST00000395591,;RABL2B,missense_variant,p.Gln212His,ENST00000435118,;RABL2B,downstream_gene_variant,,ENST00000395590,;RABL2B,non_coding_transcript_exon_variant,,ENST00000465063,;RPL23AP82,intron_variant,,ENST00000496652,;RABL2B,3_prime_UTR_variant,,ENST00000436958,;RABL2B,3_prime_UTR_variant,,ENST00000425098,;RABL2B,downstream_gene_variant,,ENST00000464678,;RABL2B,downstream_gene_variant,,ENST00000482308,;							MODERATE	636/687	Q212H	RBL2B_HUMAN			Transcript		benign(0.216)	.	ENSP00000378962		CCDS14102.1			1	
ENTPD2	0	LGGM	GRCh37	9	139944385	139944385	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000355097.2:c.1086C>A	p.Pro362=	p.P362=	ENST00000355097	NM_001246.3	362	ccC/ccA	0	1	1	UPI0000001C45	0		ENST00000355097		ENSG00000054179	3364		11			HGNC	p.P362P		ENTPD2		SNV							ENST00000312665	protein_coding			hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF33,Pfam_domain:PF01150		P		T		1134/2095				Q5SPY7_HUMAN			YES	ENTPD2,synonymous_variant,p.=,ENST00000355097,NM_001246.3,NM_203468.2;ENTPD2,synonymous_variant,p.=,ENST00000312665,;NPDC1,upstream_gene_variant,,ENST00000371601,NM_015392.3;RP11-229P13.15,upstream_gene_variant,,ENST00000439076,;ENTPD2,upstream_gene_variant,,ENST00000460614,;ENTPD2,downstream_gene_variant,,ENST00000469106,;NPDC1,upstream_gene_variant,,ENST00000488145,;NPDC1,upstream_gene_variant,,ENST00000485589,;							LOW	1086/1488		ENTP2_HUMAN			Transcript			.	ENSP00000347213		CCDS7026.1			1	
ZNF496	0	LGGM	GRCh37	1	247464180	247464180	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000294753.4:c.1405G>T	p.Gly469Trp	p.G469W	ENST00000294753	NM_032752.1	469	Ggg/Tgg	0	1	1	UPI000007025B	0	getma.org/pdb.php?prot=ZN496_HUMAN&from=463&to=485&var=G469W	ENST00000294753		ENSG00000162714	23713		11	2.775		HGNC	p.G505W		ZNF496		SNV							ENST00000366498	protein_coding	getma.org/?cm=var&var=hg19,1,247464180,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF212,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		A	medium	1870/5336		getma.org/?cm=msa&ty=f&p=ZN496_HUMAN&rb=443&re=505&var=G469W	deleterious(0)				YES	ZNF496,missense_variant,p.Gly469Trp,ENST00000294753,NM_032752.1;ZNF496,missense_variant,p.Gly394Trp,ENST00000461277,;ZNF496,missense_variant,p.Gly505Trp,ENST00000366498,;ZNF496,non_coding_transcript_exon_variant,,ENST00000462139,;							MODERATE	1405/1764	G469W	ZN496_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000294753		CCDS1631.1			1	
TRIM6	0	LGGM	GRCh37	11	5632147	5632147	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000380097.3:c.1126C>G	p.Gln376Glu	p.Q376E	ENST00000380097	NM_001003818.2	376	Cag/Gag	0	1		UPI00001373F4	0	getma.org/pdb.php?prot=TRIM6_HUMAN&from=282&to=488&var=Q348E	ENST00000278302		ENSG00000121236	16277		22	0.81		HGNC	p.Q348E		TRIM6		SNV							ENST00000278302	protein_coding	getma.org/?cm=var&var=hg19,11,5632147,C,G&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF290,hmmpanther:PTHR24103,SMART_domains:SM00589,Superfamily_domains:SSF49899,Prints_domain:PR01407		Q/E		G	low	1182/3217		getma.org/?cm=msa&ty=f&p=TRIM6_HUMAN&rb=282&re=488&var=Q348E	tolerated(0.23)	C9JNQ0_HUMAN				TRIM6,missense_variant,p.Gln376Glu,ENST00000380097,NM_001003818.2,NM_001198644.1,NM_001198645.1;TRIM6,missense_variant,p.Gln348Glu,ENST00000278302,NM_058166.4,NM_001198645.1;TRIM6,missense_variant,p.Gln173Glu,ENST00000445329,NM_001198645.1;TRIM6,missense_variant,p.Gln322Glu,ENST00000380107,;TRIM6,missense_variant,p.Gln173Glu,ENST00000507320,;TRIM6,missense_variant,p.Gln173Glu,ENST00000506134,;TRIM6,missense_variant,p.Gln173Glu,ENST00000515022,;TRIM6-TRIM34,intron_variant,,ENST00000354852,NM_001003819.3;HBG2,intron_variant,,ENST00000380259,;TRIM6,downstream_gene_variant,,ENST00000424369,;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,;							MODERATE	1042/1467	Q348E	TRIM6_HUMAN			Transcript		benign(0.118)	.	ENSP00000278302		CCDS31390.1			1	
MOCS3	0	LGGM	GRCh37	20	49576128	49576128	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000244051.1:c.749G>A	p.Gly250Glu	p.G250E	ENST00000244051	NM_014484.4	250	gGg/gAg	0	1	1	UPI000012F369	0	getma.org/pdb.php?prot=MOCS3_HUMAN&from=218&to=304&var=G250E	ENST00000244051		ENSG00000124217	15765		17	4.7		HGNC	p.G250E		MOCS3		SNV							ENST00000244051	protein_coding	getma.org/?cm=var&var=hg19,20,49576128,G,A&fts=all		Low_complexity_(Seg):seg,HAMAP:MF_03049,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF102,Gene3D:3.40.50.720,Pfam_domain:PF05237,Superfamily_domains:SSF69572		G/E		A	high	766/2458		getma.org/?cm=msa&ty=f&p=MOCS3_HUMAN&rb=218&re=304&var=G250E	deleterious(0)				YES	MOCS3,missense_variant,p.Gly250Glu,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,;							MODERATE	749/1383	G250E	MOCS3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000244051		CCDS13435.1			1	
OR8B8	0	LGGM	GRCh37	11	124310817	124310817	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	3	.	.	ENST00000328064.2:c.165G>C	p.Leu55Phe	p.L55F	ENST00000328064	NM_012378.1	55	ttG/ttC	0	1	1	UPI00000015B1	0	getma.org/pdb.php?prot=OR8B8_HUMAN&from=1&to=138&var=L55F	ENST00000328064		ENSG00000197125	8477		50	2.885		HGNC	p.L55F		OR8B8		SNV							ENST00000328064	protein_coding	getma.org/?cm=var&var=hg19,11,124310817,C,G&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF5,Superfamily_domains:SSF81321		L/F		G	medium	238/1033		getma.org/?cm=msa&ty=f&p=OR8B8_HUMAN&rb=1&re=138&var=L55F	deleterious_low_confidence(0)				YES	OR8B8,missense_variant,p.Leu55Phe,ENST00000328064,NM_012378.1;							MODERATE	165/936	L55F	OR8B8_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000330280		CCDS8446.1			1	
PLXDC2	0	LGGM	GRCh37	10	20357164	20357164	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000377252.4:c.537C>A	p.Thr179=	p.T179=	ENST00000377252	NM_032812.7	179	acC/acA	0	1	1	UPI0000048F2C	0		ENST00000377252		ENSG00000120594	21013		24			HGNC	p.T130T	COSM1347197	PLXDC2		SNV						1	ENST00000377242	protein_coding			hmmpanther:PTHR13055,hmmpanther:PTHR13055:SF11		T		A		1378/12468							YES	PLXDC2,synonymous_variant,p.=,ENST00000377252,NM_032812.7;PLXDC2,synonymous_variant,p.=,ENST00000377242,NM_001282736.1;RP11-575A19.2,downstream_gene_variant,,ENST00000451584,;PLXDC2,non_coding_transcript_exon_variant,,ENST00000377238,;					1		LOW	537/1590		PXDC2_HUMAN			Transcript			.	ENSP00000366460		CCDS7132.1			1	
SGSM3	0	LGGM	GRCh37	22	40803271	40803271	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	3	.	.	ENST00000248929.9:c.1307G>T	p.Arg436Leu	p.R436L	ENST00000248929	NM_015705.4	436	cGg/cTg	0	1	1	UPI0000035D8C	0	NA	ENST00000248929		ENSG00000100359	25228		14	2.19		HGNC	p.R436L	COSM4104391	SGSM3		SNV						1	ENST00000248929	protein_coding	getma.org/?cm=var&var=hg19,22,40803271,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF209		R/L		T	medium	1496/2969		getma.org/?cm=msa&ty=f&p=SGSM3_HUMAN&rb=326&re=485&var=R436L	deleterious(0)	B9A6J5_HUMAN,B0QY80_HUMAN			YES	SGSM3,missense_variant,p.Arg436Leu,ENST00000248929,NM_015705.4;SGSM3,missense_variant,p.Arg369Leu,ENST00000454798,;MKL1,downstream_gene_variant,,ENST00000396617,NM_001282662.1;MKL1,downstream_gene_variant,,ENST00000355630,NM_020831.3;MKL1,downstream_gene_variant,,ENST00000402042,NM_001282661.1;MKL1,downstream_gene_variant,,ENST00000407029,NM_001282660.1;SGSM3,downstream_gene_variant,,ENST00000457767,;SGSM3,upstream_gene_variant,,ENST00000427834,;SGSM3,upstream_gene_variant,,ENST00000417424,;SGSM3,non_coding_transcript_exon_variant,,ENST00000478085,;SGSM3,non_coding_transcript_exon_variant,,ENST00000485962,;SGSM3,non_coding_transcript_exon_variant,,ENST00000480830,;SGSM3,non_coding_transcript_exon_variant,,ENST00000481408,;SGSM3,non_coding_transcript_exon_variant,,ENST00000481028,;SGSM3,upstream_gene_variant,,ENST00000469719,;SGSM3,upstream_gene_variant,,ENST00000462457,;SGSM3,upstream_gene_variant,,ENST00000470518,;SGSM3,upstream_gene_variant,,ENST00000467915,;MKL1,downstream_gene_variant,,ENST00000477468,;					1		MODERATE	1307/2250	R436L	SGSM3_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000248929		CCDS14002.1			1	
CDHR2	0	LGGM	GRCh37	5	176008551	176008551	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000510636.1:c.2026G>T	p.Gly676Cys	p.G676C	ENST00000510636	NM_001171976.1	676	Ggc/Tgc	0	1		UPI0000DBEE8C	0	NA	ENST00000261944		ENSG00000074276	18231		22	-0.41		HGNC	p.G676C		CDHR2		SNV							ENST00000510636	protein_coding	getma.org/?cm=var&var=hg19,5,176008551,G,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF286,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		G/C		T	neutral	2065/4068		getma.org/?cm=msa&ty=f&p=CDHR2_HUMAN&rb=590&re=686&var=G676C	deleterious(0)					CDHR2,missense_variant,p.Gly676Cys,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Gly676Cys,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Gly676Cys,ENST00000506348,;							MODERATE	2026/3933	G676C	CDHR2_HUMAN			Transcript		benign(0.122)	.	ENSP00000261944		CCDS34297.1			1	
RBM20	0	LGGM	GRCh37	10	112572478	112572478	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000369519.3:c.2323C>A	p.Gln775Lys	p.Q775K	ENST00000369519	NM_001134363.1	775	Cag/Aag	0	1	1	UPI00016624E1	0	NA	ENST00000369519		ENSG00000203867	27424		9	1.59		HGNC	p.Q775K		RBM20		SNV			1				ENST00000369519	protein_coding	getma.org/?cm=var&var=hg19,10,112572478,C,A&fts=all		hmmpanther:PTHR11546,hmmpanther:PTHR11546:SF2		Q/K		A	low	2381/7233		getma.org/?cm=msa&ty=f&p=RBM20_HUMAN&rb=604&re=1225&var=Q775K	tolerated(0.72)				YES	RBM20,missense_variant,p.Gln775Lys,ENST00000369519,NM_001134363.1;							MODERATE	2323/3684	Q775K	RBM20_HUMAN			Transcript		benign(0.207)	.	ENSP00000358532		CCDS44477.1			1	
CXorf65	0	LGGM	GRCh37	X	70324149	70324149	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000374251.5:c.425C>A	p.Pro142Gln	p.P142Q	ENST00000374251	NM_001025265.2	142	cCg/cAg	0	1	1	UPI0000160F66	0	NA	ENST00000374251		ENSG00000204165	33713		32	1.24		HGNC	p.P142Q		CXorf65		SNV							ENST00000374251	protein_coding	getma.org/?cm=var&var=hg19,X,70324149,G,T&fts=all		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF16		P/Q		T	low	474/601		getma.org/?cm=msa&ty=f&p=CX065_HUMAN&rb=10&re=181&var=P142Q	tolerated(0.16)	C9J8K0_HUMAN			YES	CXorf65,missense_variant,p.Pro142Gln,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,;							MODERATE	425/552	P142Q	CX065_HUMAN			Transcript		benign(0.189)	.	ENSP00000363369		CCDS35324.1			1	
IFI30	0	LGGM	GRCh37	19	18285958	18285958	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000407280.3:c.241C>A	p.Arg81=	p.R81=	ENST00000407280	NM_006332.4	81	Cgg/Agg	0	1	1	UPI0000072A2B	0		ENST00000407280		ENSG00000216490	5398		11			HGNC	p.R81R		IFI30		SNV							ENST00000407280	protein_coding			Pfam_domain:PF03227,hmmpanther:PTHR13234,hmmpanther:PTHR13234:SF8		R		A		416/1134				M0QZG3_HUMAN			YES	IFI30,synonymous_variant,p.=,ENST00000407280,NM_006332.4;IFI30,synonymous_variant,p.=,ENST00000597802,;PIK3R2,downstream_gene_variant,,ENST00000222254,NM_005027.3;PIK3R2,3_prime_UTR_variant,,ENST00000593731,;IFI30,non_coding_transcript_exon_variant,,ENST00000600463,;							LOW	241/753		GILT_HUMAN			Transcript			.	ENSP00000384886		CCDS46015.1			1	
SPINK4	0	LGGM	GRCh37	9	33246723	33246723	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000379721.3:c.212G>T	p.Arg71Leu	p.R71L	ENST00000379721	NM_014471.1	71	cGg/cTg	0	1	1	UPI000012D8F5	0		ENST00000379721		ENSG00000122711	16646		22			HGNC	p.R71L		SPINK4		SNV							ENST00000379721	protein_coding			Superfamily_domains:SSF100895,SMART_domains:SM00280,Gene3D:3.30.60.30,Pfam_domain:PF00050,hmmpanther:PTHR21179,PROSITE_profiles:PS51465		R/L		T		257/402			deleterious(0)				YES	SPINK4,missense_variant,p.Arg94Leu,ENST00000379725,;SPINK4,missense_variant,p.Arg94Leu,ENST00000379723,;SPINK4,missense_variant,p.Arg71Leu,ENST00000379721,NM_014471.1;BAG1,downstream_gene_variant,,ENST00000493917,;							MODERATE	212/261		ISK4_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000369045		CCDS6536.1			1	
LATS2	0	LGGM	GRCh37	13	21549328	21549328	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000382592.4:c.2948G>T	p.Arg983Leu	p.R983L	ENST00000382592	NM_014572.2	983	cGg/cTg	0	1	1	UPI000013DBF5	0	getma.org/pdb.php?prot=LATS2_HUMAN&from=974&to=1052&var=R983L	ENST00000382592		ENSG00000150457	6515		32	2.435		HGNC	p.R983L		LATS2		SNV							ENST00000542899	protein_coding	getma.org/?cm=var&var=hg19,13,21549328,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00133,Gene3D:1.10.510.10,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149,PROSITE_profiles:PS51285		R/L		A	medium	3354/5511		getma.org/?cm=msa&ty=f&p=LATS2_HUMAN&rb=974&re=1052&var=R983L	deleterious(0.01)				YES	LATS2,missense_variant,p.Arg983Leu,ENST00000382592,NM_014572.2;LATS2,missense_variant,p.Arg983Leu,ENST00000542899,;							MODERATE	2948/3267	R983L	LATS2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000372035		CCDS9294.1			1	
MAPK7	0	LGGM	GRCh37	17	19284025	19284025	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000308406.5:c.503G>T	p.Arg168Leu	p.R168L	ENST00000308406	NM_139033.2	168	cGg/cTg	0	1	1	UPI000006FED0	0	getma.org/pdb.php?prot=MK07_HUMAN&from=55&to=347&var=R168L	ENST00000308406		ENSG00000166484	6880		21	0.945		HGNC	p.R168L		MAPK7		SNV							ENST00000443215	protein_coding	getma.org/?cm=var&var=hg19,17,19284025,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_patterns:PS01351,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF7,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		T	low	889/3149		getma.org/?cm=msa&ty=f&p=MK07_HUMAN&rb=55&re=347&var=R168L	deleterious(0)	J3KT61_HUMAN,I3L0J8_HUMAN,C9JUK9_HUMAN			YES	MAPK7,missense_variant,p.Arg168Leu,ENST00000308406,NM_139033.2;MAPK7,missense_variant,p.Arg168Leu,ENST00000395604,NM_002749.3;MAPK7,missense_variant,p.Arg168Leu,ENST00000395602,NM_139034.2;MAPK7,missense_variant,p.Arg29Leu,ENST00000299612,NM_139032.2;MAPK7,missense_variant,p.Arg168Leu,ENST00000443215,;MAPK7,missense_variant,p.Arg29Leu,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,,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,;MAPK7,3_prime_UTR_variant,,ENST00000581260,;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,,ENST00000573466,;MAPK7,downstream_gene_variant,,ENST00000486905,;MAPK7,downstream_gene_variant,,ENST00000572853,;							MODERATE	503/2451	R168L	MK07_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000311005		CCDS11206.1			1	
ZAN	0	LGGM	GRCh37	7	100363098	100363098	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000546292.1:c.4391C>A	p.Pro1464Gln	p.P1464Q	ENST00000546292	NM_173059.1	1464	cCg/cAg	0	1	1	UPI00004575C6	0	NA	ENST00000546292		ENSG00000146839	12857		24	1.725		HGNC	p.P41Q		ZAN		SNV							ENST00000546213	protein_coding	getma.org/?cm=var&var=hg19,7,100363098,C,A&fts=all		Superfamily_domains:SSF57567,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF01826,PROSITE_patterns:PS01186,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339		P/Q		A	low	4539/8375		getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=1426&re=1479&var=P1464Q		F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Pro1464Gln,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Pro1464Gln,ENST00000538115,;ZAN,missense_variant,p.Pro1464Gln,ENST00000546292,NM_173059.1;ZAN,missense_variant,p.Pro41Gln,ENST00000546213,;ZAN,missense_variant,p.Pro1464Gln,ENST00000427578,;ZAN,missense_variant,p.Pro1464Gln,ENST00000449052,;ZAN,missense_variant,p.Pro1464Gln,ENST00000349350,;ZAN,missense_variant,p.Pro1464Gln,ENST00000443370,;ZAN,missense_variant,p.Pro1464Gln,ENST00000421100,;ZAN,missense_variant,p.Pro1464Gln,ENST00000348028,;							MODERATE	4391/8163	P1464Q				Transcript		unknown(0)	.	ENSP00000445943					1	
CACNG3	0	LGGM	GRCh37	16	24373042	24373042	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	3	.	.	ENST00000005284.3:c.806G>T	p.Arg269Leu	p.R269L	ENST00000005284	NM_006539.3	269	cGg/cTg	0	1	1	UPI000000D979	0	NA	ENST00000005284		ENSG00000006116	1407		28	2.325		HGNC	p.R269L		CACNG3		SNV							ENST00000005284	protein_coding	getma.org/?cm=var&var=hg19,16,24373042,G,T&fts=all		hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF5		R/L		T	medium	2008/3088		getma.org/?cm=msa&ty=f&p=CCG3_HUMAN&rb=197&re=315&var=R269L	deleterious(0)				YES	CACNG3,missense_variant,p.Arg269Leu,ENST00000005284,NM_006539.3;							MODERATE	806/948	R269L	CCG3_HUMAN			Transcript		benign(0.406)	.	ENSP00000005284		CCDS10620.1			1	
STAT2	0	LGGM	GRCh37	12	56737278	56737278	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	3	.	.	ENST00000314128.4:c.2451G>T	p.Pro817=	p.P817=	ENST00000314128		817	ccG/ccT	0	1	1	UPI00000473FC	0		ENST00000314128		ENSG00000170581	11363		31			HGNC	p.P813P		STAT2		SNV							ENST00000557235	protein_coding			Pfam_domain:PF12188		P		A		2475/3259				R9QG81_HUMAN,R9QE65_HUMAN,Q6LD48_HUMAN			YES	STAT2,synonymous_variant,p.=,ENST00000314128,;STAT2,synonymous_variant,p.=,ENST00000557235,NM_005419.3,NM_198332.1;IL23A,downstream_gene_variant,,ENST00000228534,NM_016584.2;STAT2,non_coding_transcript_exon_variant,,ENST00000556539,;STAT2,downstream_gene_variant,,ENST00000557199,;STAT2,downstream_gene_variant,,ENST00000555488,;							LOW	2451/2556		STAT2_HUMAN			Transcript			.	ENSP00000315768		CCDS8917.1			1	
MAST4	0	LGGM	GRCh37	5	66461121	66461121	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	3	.	.	ENST00000403625.2:c.6114G>T	p.Pro2038=	p.P2038=	ENST00000403625	NM_001164664.1	2038	ccG/ccT	0	1	1	UPI000173A2B0	0		ENST00000403625		ENSG00000069020	19037		25			HGNC	p.P2041P		MAST4		SNV							ENST00000404260	protein_coding					P		T		6409/10711				J3QT34_HUMAN			YES	MAST4,synonymous_variant,p.=,ENST00000404260,;MAST4,synonymous_variant,p.=,ENST00000403625,NM_001164664.1;MAST4,synonymous_variant,p.=,ENST00000405643,;MAST4,synonymous_variant,p.=,ENST00000261569,;MAST4,synonymous_variant,p.=,ENST00000403666,NM_015183.2;MAST4,synonymous_variant,p.=,ENST00000443808,;							LOW	6114/7872					Transcript			.	ENSP00000385727		CCDS54861.1			1	
WNT2B	0	LGGM	GRCh37	1	113057706	113057706	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000369684.4:c.393C>A	p.Val131=	p.V131=	ENST00000369684	NM_024494.2	131	gtC/gtA	0	1	1	UPI0000138F23	0		ENST00000369684		ENSG00000134245	12781		9			HGNC	p.V39V		WNT2B		SNV							ENST00000256640	protein_coding			Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF93,SMART_domains:SM00097		V		A		878/3818				Q5TEH9_HUMAN,Q5TEH8_HUMAN			YES	WNT2B,synonymous_variant,p.=,ENST00000369686,NM_004185.3;WNT2B,synonymous_variant,p.=,ENST00000369684,NM_024494.2;WNT2B,synonymous_variant,p.=,ENST00000256640,;RP4-671G15.2,downstream_gene_variant,,ENST00000608357,;WNT2B,non_coding_transcript_exon_variant,,ENST00000478360,;							LOW	393/1176		WNT2B_HUMAN			Transcript			.	ENSP00000358698		CCDS847.1			1	
ACSL1	0	LGGM	GRCh37	4	185687904	185687904	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	3	.	.	ENST00000515030.1:c.1135G>T	p.Gly379Ter	p.G379*	ENST00000515030	NM_001286708.1	379	Gga/Tga	0	1		UPI000004AC12	0	NA	ENST00000281455		ENSG00000151726	3569		23	0		HGNC	p.G379X		ACSL1		SNV							ENST00000281455	protein_coding	getma.org/?cm=var&var=hg19,4,185687904,C,A&fts=all		Superfamily_domains:SSF56801,Pfam_domain:PF00501,hmmpanther:PTHR24096:SF167,hmmpanther:PTHR24096		G/*		A	NA	1346/3832		NA		B7Z3Z9_HUMAN				ACSL1,stop_gained,p.Gly379Ter,ENST00000515030,NM_001286708.1;ACSL1,stop_gained,p.Gly379Ter,ENST00000281455,NM_001995.2;ACSL1,stop_gained,p.Gly208Ter,ENST00000454703,NM_001286712.1;ACSL1,stop_gained,p.Gly208Ter,ENST00000437665,;ACSL1,stop_gained,p.Gly345Ter,ENST00000507295,NM_001286711.1;ACSL1,stop_gained,p.Gly379Ter,ENST00000513317,NM_001286710.1;ACSL1,stop_gained,p.Gly379Ter,ENST00000504342,;ACSL1,upstream_gene_variant,,ENST00000503407,;ACSL1,downstream_gene_variant,,ENST00000504900,;ACSL1,downstream_gene_variant,,ENST00000505492,;ACSL1,3_prime_UTR_variant,,ENST00000506733,;							HIGH	1135/2097	G379*	ACSL1_HUMAN			Transcript			.	ENSP00000281455		CCDS3839.1			1	
SLC20A2	0	LGGM	GRCh37	8	42294523	42294523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	3	.	.	ENST00000342228.3:c.1507G>T	p.Gly503Cys	p.G503C	ENST00000342228	NM_006749.4	503	Ggc/Tgc	0	1	1	UPI000006DC58	0	NA	ENST00000342228		ENSG00000168575	10947		10	4.055		HGNC	p.G503C		SLC20A2		SNV			1				ENST00000520179	protein_coding	getma.org/?cm=var&var=hg19,8,42294523,C,A&fts=all		Pfam_domain:PF01384,hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF15,Transmembrane_helices:TMhelix		G/C		A	high	1877/3657		getma.org/?cm=msa&ty=f&p=S20A2_HUMAN&rb=24&re=637&var=G503C	deleterious(0)	E5RJW9_HUMAN,E5RIX1_HUMAN,E5RGJ6_HUMAN,E5RGG8_HUMAN			YES	SLC20A2,missense_variant,p.Gly503Cys,ENST00000342228,NM_006749.4;SLC20A2,missense_variant,p.Gly503Cys,ENST00000520262,NM_001257180.1;SLC20A2,missense_variant,p.Gly503Cys,ENST00000520179,NM_001257181.1;SLC20A2,downstream_gene_variant,,ENST00000518660,;SLC20A2,downstream_gene_variant,,ENST00000522401,;							MODERATE	1507/1959	G503C	S20A2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340465		CCDS6132.1			1	
ACVR2B	0	LGGM	GRCh37	3	38519456	38519456	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	3	.	.	ENST00000352511.4:c.365C>G	p.Pro122Arg	p.P122R	ENST00000352511	NM_001106.3	122	cCg/cGg	0	1	1	UPI00001AF0AE	0	NA	ENST00000352511		ENSG00000114739	174		36	0.345		HGNC	p.P122R		ACVR2B		SNV			1				ENST00000352511	protein_coding	getma.org/?cm=var&var=hg19,3,38519456,C,G&fts=all		hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57		P/R		G	neutral	837/11821		getma.org/?cm=msa&ty=f&p=AVR2B_HUMAN&rb=118&re=189&var=P122R	deleterious(0.01)	Q71UM3_HUMAN,Q4VAU9_HUMAN			YES	ACVR2B,missense_variant,p.Pro122Arg,ENST00000352511,NM_001106.3;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;							MODERATE	365/1539	P122R	AVR2B_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000340361		CCDS2679.1			1	
TRIM67	0	LGGM	GRCh37	1	231299618	231299618	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	2	3	.	.	ENST00000366653.5:c.903C>A	p.Pro301=	p.P301=	ENST00000366653		301	ccC/ccA	0	1	1	UPI0000418F23	0		ENST00000366653		ENSG00000119283	31859		5			HGNC	p.P301P		TRIM67		SNV							ENST00000366652	protein_coding			Superfamily_domains:SSF57845,SMART_domains:SM00336,Pfam_domain:PF00643,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50119		P		A		903/3936							YES	TRIM67,synonymous_variant,p.=,ENST00000444294,NM_001004342.3;TRIM67,synonymous_variant,p.=,ENST00000366653,;TRIM67,synonymous_variant,p.=,ENST00000366652,;TRIM67,synonymous_variant,p.=,ENST00000449018,;							LOW	903/2352		TRI67_HUMAN			Transcript			.	ENSP00000355613		CCDS44333.1			1	
CLVS1	0	LGGM	GRCh37	8	62212783	62212783	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	3	.	.	ENST00000519846.1:c.397C>A	p.Arg133=	p.R133=	ENST00000519846		133	Cga/Aga	0	1		UPI000007472D	0		ENST00000325897		ENSG00000177182	23139		26			HGNC	p.R133R		CLVS1		SNV							ENST00000325897	protein_coding			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		R		A		715/3486				G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN				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,;							LOW	397/1065		CLVS1_HUMAN			Transcript			.	ENSP00000325506		CCDS6176.1			1	
SFXN1	0	LGGM	GRCh37	5	174940559	174940559	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000321442.5:c.690C>A	p.Val230=	p.V230=	ENST00000321442	NM_022754.5	230	gtC/gtA	0	1	1	UPI0000044799	0		ENST00000321442		ENSG00000164466	16085		18			HGNC	p.V230V		SFXN1		SNV							ENST00000321442	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11153:SF21,hmmpanther:PTHR11153,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820		V		A		944/4231				D6RFI0_HUMAN,D6RDG7_HUMAN			YES	SFXN1,synonymous_variant,p.=,ENST00000321442,NM_022754.5;SFXN1,downstream_gene_variant,,ENST00000506963,;SFXN1,downstream_gene_variant,,ENST00000502393,;SFXN1,downstream_gene_variant,,ENST00000507017,;SFXN1,3_prime_UTR_variant,,ENST00000507823,;SFXN1,3_prime_UTR_variant,,ENST00000502865,;SFXN1,non_coding_transcript_exon_variant,,ENST00000515736,;SFXN1,downstream_gene_variant,,ENST00000513725,;SFXN1,downstream_gene_variant,,ENST00000508290,;							LOW	690/969		SFXN1_HUMAN			Transcript			.	ENSP00000316905		CCDS4394.1			1	
ZNF830	0	LGGM	GRCh37	17	33289310	33289310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	3	.	.	ENST00000361952.3:c.725C>A	p.Thr242Asn	p.T242N	ENST00000361952	NM_052857.3	242	aCc/aAc	0	1	1	UPI0000456A79	0	NA	ENST00000361952		ENSG00000198783	28291		34	1.3		HGNC	p.T242N		ZNF830		SNV							ENST00000361952	protein_coding	getma.org/?cm=var&var=hg19,17,33289310,C,A&fts=all		hmmpanther:PTHR13278		T/N		A	low	762/1657		getma.org/?cm=msa&ty=f&p=ZN830_HUMAN&rb=231&re=353&var=T242N	deleterious(0.01)	J3QQQ3_HUMAN			YES	ZNF830,missense_variant,p.Thr242Asn,ENST00000361952,NM_052857.3;CCT6B,intron_variant,,ENST00000585073,;CCT6B,upstream_gene_variant,,ENST00000314144,NM_006584.3;CCT6B,upstream_gene_variant,,ENST00000421975,NM_001193529.1;CCT6B,upstream_gene_variant,,ENST00000436961,NM_001193530.1;ZNF830,upstream_gene_variant,,ENST00000578339,;							MODERATE	725/1119	T242N	ZN830_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354518		CCDS32618.1			1	
MRPL52	0	LGGM	GRCh37	14	23299420	23299420	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	3	.	.	ENST00000355151.5:c.114C>A	p.Ser38=	p.S38=	ENST00000355151	NM_181306.2	38	tcC/tcA	0	1	1	UPI0000161003	0		ENST00000355151		ENSG00000172590	16655		14			HGNC	p.S38S		MRPL52		SNV							ENST00000397505	protein_coding					S		A		144/1118							YES	MRPL52,synonymous_variant,p.=,ENST00000355151,NM_181306.2,NM_178336.2,NM_180982.2;MRPL52,synonymous_variant,p.=,ENST00000397496,;MRPL52,synonymous_variant,p.=,ENST00000432849,;MRPL52,synonymous_variant,p.=,ENST00000397505,NM_181307.2;MRPL52,synonymous_variant,p.=,ENST00000556465,;MRPL52,5_prime_UTR_variant,,ENST00000311892,;MRPL52,5_prime_UTR_variant,,ENST00000557221,;MRPL52,5_prime_UTR_variant,,ENST00000555345,NM_181305.2;MRPL52,5_prime_UTR_variant,,ENST00000553711,NM_181304.2;MRPL52,5_prime_UTR_variant,,ENST00000555536,;MRPL52,5_prime_UTR_variant,,ENST00000556840,;SLC7A7,upstream_gene_variant,,ENST00000488800,;MRPL52,non_coding_transcript_exon_variant,,ENST00000461594,;MRPL52,non_coding_transcript_exon_variant,,ENST00000556654,;MRPL52,non_coding_transcript_exon_variant,,ENST00000557543,;MRPL52,non_coding_transcript_exon_variant,,ENST00000553482,;MRPL52,non_coding_transcript_exon_variant,,ENST00000556214,;MRPL52,upstream_gene_variant,,ENST00000553965,;							LOW	114/372		RM52_HUMAN			Transcript			.	ENSP00000347277		CCDS41917.1			1	
C3orf20	0	LGGM	GRCh37	3	14744738	14744738	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000253697.3:c.847C>A	p.Arg283=	p.R283=	ENST00000253697	NM_032137.4	283	Cgg/Agg	0	1	1	UPI000013CDE9	0		ENST00000253697		ENSG00000131379	25320		22			HGNC	p.R161R		C3orf20		SNV							ENST00000435614	protein_coding			hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14		R		A		1299/3326							YES	C3orf20,synonymous_variant,p.=,ENST00000253697,NM_032137.4;C3orf20,synonymous_variant,p.=,ENST00000435614,NM_001184958.1;C3orf20,synonymous_variant,p.=,ENST00000412910,NM_001184957.1;C3orf20,upstream_gene_variant,,ENST00000495387,;							LOW	847/2715		CC020_HUMAN			Transcript			.	ENSP00000253697		CCDS33706.1			1	
ZNF212	0	LGGM	GRCh37	7	148950958	148950958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	3	.	.	ENST00000335870.2:c.940C>A	p.Arg314Ser	p.R314S	ENST00000335870	NM_012256.3	314	Cgc/Agc	0	1	1	UPI000013CEE2	0	NA	ENST00000335870		ENSG00000170260	13004		20	0		HGNC	p.R314S		ZNF212		SNV							ENST00000335870	protein_coding	getma.org/?cm=var&var=hg19,7,148950958,C,A&fts=all		hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF42,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		R/S		A	neutral	1068/2810		getma.org/?cm=msa&ty=f&p=ZN212_HUMAN&rb=182&re=314&var=R314S	tolerated(0.58)				YES	ZNF212,missense_variant,p.Arg314Ser,ENST00000335870,NM_012256.3;ZNF212,downstream_gene_variant,,ENST00000481584,;ZNF212,downstream_gene_variant,,ENST00000462724,;ZNF212,downstream_gene_variant,,ENST00000486371,;ZNF212,downstream_gene_variant,,ENST00000488917,;							MODERATE	940/1488	R314S	ZN212_HUMAN			Transcript		benign(0.001)	.	ENSP00000338572		CCDS5896.1			1	
SART1	0	LGGM	GRCh37	11	65732567	65732567	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	3	.	.	ENST00000312397.5:c.432G>T	p.Ala144=	p.A144=	ENST00000312397	NM_005146.4	144	gcG/gcT	0	1	1	UPI00000732D5	0		ENST00000312397		ENSG00000175467	10538		13			HGNC	p.R158L	COSM4035596	SART1		SNV						1	ENST00000530251	protein_coding			Pfam_domain:PF03343,hmmpanther:PTHR14152,hmmpanther:PTHR14152:SF5		A		T		524/3293							YES	SART1,synonymous_variant,p.=,ENST00000312397,NM_005146.4;SART1,non_coding_transcript_exon_variant,,ENST00000528573,;SART1,missense_variant,p.Arg158Leu,ENST00000530251,;SART1,non_coding_transcript_exon_variant,,ENST00000529532,;SART1,downstream_gene_variant,,ENST00000532333,;					1		LOW	432/2403		SNUT1_HUMAN			Transcript			.	ENSP00000310448		CCDS31611.1			1	
TBX2	0	LGGM	GRCh37	17	59485574	59485574	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000240328.3:c.1846C>A	p.Arg616=	p.R616=	ENST00000240328	NM_005994.3	616	Cgg/Agg	0	1	1	UPI000020116F	0		ENST00000240328		ENSG00000121068	11597		18			HGNC	p.R616R		TBX2		SNV			1				ENST00000240328	protein_coding			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF82		R		A		2127/3339							YES	TBX2,synonymous_variant,p.=,ENST00000240328,NM_005994.3;C17orf82,upstream_gene_variant,,ENST00000335108,NM_203425.1;RP11-332H18.4,intron_variant,,ENST00000592009,;TBX2,upstream_gene_variant,,ENST00000586986,;TBX2,3_prime_UTR_variant,,ENST00000419047,;TBX2,non_coding_transcript_exon_variant,,ENST00000477081,;							LOW	1846/2139		TBX2_HUMAN			Transcript			.	ENSP00000240328		CCDS11627.2			1	
CPT1C	0	LGGM	GRCh37	19	50200672	50200672	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	3	.	.	ENST00000392518.4:c.231G>C	p.Leu77=	p.L77=	ENST00000392518	NM_001199752.1	77	ctG/ctC	0	1		UPI0000071C78	0		ENST00000323446		ENSG00000169169	18540		39			HGNC	p.G58R		CPT1C		SNV							ENST00000595568	protein_coding			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55		L		C		476/2783				M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN				CPT1C,synonymous_variant,p.=,ENST00000392518,NM_001199752.1;CPT1C,synonymous_variant,p.=,ENST00000405931,NM_001136052.2;CPT1C,synonymous_variant,p.=,ENST00000323446,NM_152359.2;CPT1C,synonymous_variant,p.=,ENST00000598293,NM_001199753.1;CPT1C,synonymous_variant,p.=,ENST00000354199,;CPT1C,synonymous_variant,p.=,ENST00000598396,;CPT1C,synonymous_variant,p.=,ENST00000594587,;CPT1C,synonymous_variant,p.=,ENST00000602019,;CPT1C,synonymous_variant,p.=,ENST00000595969,;CPT1C,downstream_gene_variant,,ENST00000598714,;CPT1C,missense_variant,p.Gly58Arg,ENST00000595568,;CPT1C,3_prime_UTR_variant,,ENST00000598259,;CPT1C,3_prime_UTR_variant,,ENST00000596922,;CPT1C,non_coding_transcript_exon_variant,,ENST00000599023,;CPT1C,non_coding_transcript_exon_variant,,ENST00000295404,;CPT1C,non_coding_transcript_exon_variant,,ENST00000600944,;CPT1C,upstream_gene_variant,,ENST00000596701,;CPT1C,downstream_gene_variant,,ENST00000594038,;							LOW	231/2412		CPT1C_HUMAN			Transcript			.	ENSP00000319343		CCDS12779.1			1	
POMK	0	LGGM	GRCh37	8	42977566	42977566	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000331373.5:c.599G>T	p.Arg200Leu	p.R200L	ENST00000331373	NM_032237.4	200	cGg/cTg	0	1	1	UPI000003C970	0	getma.org/pdb.php?prot=SG196_HUMAN&from=81&to=226&var=R200L	ENST00000331373		ENSG00000185900	26267		17	-0.755		HGNC	p.R200L	rs146214675	POMK		SNV	T:0.0002		1	9.66E-05			ENST00000331373	protein_coding	getma.org/?cm=var&var=hg19,8,42977566,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22618,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		R/L	T:0.0002	T	neutral	854/1865	9.01E-05	getma.org/?cm=msa&ty=f&p=SG196_HUMAN&rb=81&re=226&var=R200L	tolerated(1)	E5RJD5_HUMAN			YES	POMK,missense_variant,p.Arg200Leu,ENST00000331373,NM_032237.4,NM_001277971.1;POMK,downstream_gene_variant,,ENST00000518991,;RP11-598P20.3,downstream_gene_variant,,ENST00000517759,;							MODERATE	599/1053	R200L	SG196_HUMAN			Transcript		benign(0.103)	.	ENSP00000331258	5.77E-05	CCDS6141.1			1	
IKBKE	0	LGGM	GRCh37	1	206652381	206652381	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	3	.	.	ENST00000367120.3:c.1088C>G	p.Pro363Arg	p.P363R	ENST00000367120	NM_014002.3	363	cCc/cGc	0	1	1	UPI0000033727	0	NA	ENST00000367120		ENSG00000143466	14552		29	2.045		HGNC	p.P363R		IKBKE		SNV							ENST00000367120	protein_coding	getma.org/?cm=var&var=hg19,1,206652381,C,G&fts=all		hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF10		P/R		G	medium	1461/3269		getma.org/?cm=msa&ty=f&p=IKKE_HUMAN&rb=348&re=712&var=P363R	deleterious(0)				YES	IKBKE,missense_variant,p.Pro363Arg,ENST00000367120,NM_014002.3,NM_001193322.1;IKBKE,missense_variant,p.Pro278Arg,ENST00000537984,NM_001193321.1;IKBKE,downstream_gene_variant,,ENST00000463979,;IKBKE,upstream_gene_variant,,ENST00000492570,;							MODERATE	1088/2151	P363R	IKKE_HUMAN			Transcript		possibly_damaging(0.553)	.	ENSP00000356087		CCDS30996.1			1	
TRIM28	0	LGGM	GRCh37	19	59058758	59058758	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	3	.	.	ENST00000253024.5:c.602G>T	p.Arg201Leu	p.R201L	ENST00000253024	NM_005762.2	201	cGg/cTg	0	1	1	UPI0000136C15	0	NA	ENST00000253024		ENSG00000130726	16384		23	0.855		HGNC	p.R119L		TRIM28		SNV							ENST00000341753	protein_coding	getma.org/?cm=var&var=hg19,19,59058758,G,T&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF285		R/L		T	low	891/2960		getma.org/?cm=msa&ty=f&p=TIF1B_HUMAN&rb=166&re=233&var=R201L	tolerated(0.13)	M0R3C0_HUMAN,M0QZE6_HUMAN			YES	TRIM28,missense_variant,p.Arg201Leu,ENST00000253024,NM_005762.2;TRIM28,missense_variant,p.Arg119Leu,ENST00000341753,;TRIM28,missense_variant,p.Arg67Leu,ENST00000594806,;TRIM28,missense_variant,p.Arg113Leu,ENST00000593582,;TRIM28,upstream_gene_variant,,ENST00000597136,;CHMP2A,downstream_gene_variant,,ENST00000600118,;CHMP2A,downstream_gene_variant,,ENST00000312547,NM_014453.2;CHMP2A,downstream_gene_variant,,ENST00000601220,NM_198426.1;CHMP2A,downstream_gene_variant,,ENST00000600006,;CHMP2A,downstream_gene_variant,,ENST00000596708,;TRIM28,downstream_gene_variant,,ENST00000597968,;RN7SL525P,upstream_gene_variant,,ENST00000579267,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597423,;TRIM28,non_coding_transcript_exon_variant,,ENST00000597618,;TRIM28,upstream_gene_variant,,ENST00000601150,;TRIM28,upstream_gene_variant,,ENST00000598355,;TRIM28,upstream_gene_variant,,ENST00000597995,;TRIM28,upstream_gene_variant,,ENST00000595974,;CHMP2A,downstream_gene_variant,,ENST00000597209,;TRIM28,upstream_gene_variant,,ENST00000597172,;TRIM28,upstream_gene_variant,,ENST00000595028,;TRIM28,upstream_gene_variant,,ENST00000600840,;							MODERATE	602/2508	R201L	TIF1B_HUMAN			Transcript		benign(0.008)	.	ENSP00000253024		CCDS12985.1			1	
C2CD3	0	LGGM	GRCh37	11	73748702	73748702	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000313663.7:c.5702G>T	p.Arg1901Leu	p.R1901L	ENST00000313663	NM_015531.4	1901	cGc/cTc	0	1		UPI0001AE6C29	0	NA	ENST00000334126		ENSG00000168014	24564		19	0		HGNC	p.R1901L	rs377328047	C2CD3		SNV	T:0.0002		1				ENST00000334126	protein_coding	getma.org/?cm=var&var=hg19,11,73748702,C,A&fts=all		hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1		R/L	T:0	A	neutral	5929/7289	1.51E-05	getma.org/?cm=msa&ty=f&p=C2CD3_HUMAN&rb=1729&re=1928&var=R1901L	deleterious(0)					C2CD3,missense_variant,p.Arg1901Leu,ENST00000334126,NM_001286577.1;C2CD3,missense_variant,p.Arg1901Leu,ENST00000313663,NM_015531.4;C2CD3,missense_variant,p.Arg709Leu,ENST00000414160,;C2CD3,intron_variant,,ENST00000538361,;C2CD3,non_coding_transcript_exon_variant,,ENST00000538625,;C2CD3,intron_variant,,ENST00000540452,;C2CD3,upstream_gene_variant,,ENST00000542452,;C2CD3,splice_region_variant,,ENST00000442398,;							MODERATE	5702/7062	R1901L	C2CD3_HUMAN			Transcript		benign(0.032)	.	ENSP00000334379	8.24E-06	CCDS66167.1			1	
FHOD1	0	LGGM	GRCh37	16	67281263	67281263	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000258201.4:c.51C>A	p.Thr17=	p.T17=	ENST00000258201	NM_013241.2	17	acC/acA	0	1	1	UPI000013CFB9	0		ENST00000258201		ENSG00000135723	17905		7			HGNC	p.T17T		FHOD1		SNV							ENST00000561922	protein_coding			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF189		T		T		299/3990							YES	FHOD1,synonymous_variant,p.=,ENST00000258201,NM_013241.2;SLC9A5,intron_variant,,ENST00000566345,;SLC9A5,upstream_gene_variant,,ENST00000299798,NM_004594.2;SLC9A5,upstream_gene_variant,,ENST00000561472,;FHOD1,synonymous_variant,p.=,ENST00000561922,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;SLC9A5,intron_variant,,ENST00000564704,;SLC9A5,upstream_gene_variant,,ENST00000563723,;SLC9A5,upstream_gene_variant,,ENST00000564812,;SLC9A5,upstream_gene_variant,,ENST00000566638,;							LOW	51/3495		FHOD1_HUMAN			Transcript			.	ENSP00000258201		CCDS10834.1			1	
SLC28A1	0	LGGM	GRCh37	15	85478305	85478305	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	3	.	.	ENST00000394573.1:c.1263C>A	p.Ser421=	p.S421=	ENST00000394573	NM_004213.3	421	tcC/tcA	0	1		UPI000013DE67	0		ENST00000286749		ENSG00000156222	11001		30			HGNC	p.S421S		SLC28A1		SNV							ENST00000286749	protein_coding			Pfam_domain:PF07662,hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12,TIGRFAM_domain:TIGR00804,Transmembrane_helices:TMhelix		S		A		1353/2636								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,intron_variant,,ENST00000538177,NM_001287761.1;RNU6-796P,downstream_gene_variant,,ENST00000391086,;RNU6-339P,downstream_gene_variant,,ENST00000384310,;							LOW	1263/1950		S28A1_HUMAN			Transcript			.	ENSP00000286749		CCDS10334.1			1	
HEATR1	0	LGGM	GRCh37	1	236720633	236720633	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000366582.3:c.5217G>T	p.Ser1739=	p.S1739=	ENST00000366582	NM_018072.5	1739	tcG/tcT	0	1	1	UPI000013D4D4	0		ENST00000366582		ENSG00000119285	25517		24			HGNC	p.S1739S		HEATR1		SNV							ENST00000366582	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR13457,hmmpanther:PTHR13457:SF1,Superfamily_domains:SSF48371		S		A		5332/8447				Q6P664_HUMAN			YES	HEATR1,synonymous_variant,p.=,ENST00000366582,NM_018072.5;HEATR1,synonymous_variant,p.=,ENST00000366581,;LGALS8,downstream_gene_variant,,ENST00000526589,;							LOW	5217/6435		HEAT1_HUMAN			Transcript			.	ENSP00000355541		CCDS31066.1			1	
CCDC135	0	LGGM	GRCh37	16	57761311	57761311	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000360716.3:c.2186G>T	p.Arg729Leu	p.R729L	ENST00000360716		729	cGg/cTg	0	1	1	UPI00001AEB68	0	NA	ENST00000360716		ENSG00000159625	25289		19	2.17		HGNC	p.R729L		CCDC135		SNV							ENST00000394337	protein_coding	getma.org/?cm=var&var=hg19,16,57761311,G,T&fts=all		Low_complexity_(Seg):seg		R/L		T	medium	2407/3041		getma.org/?cm=msa&ty=f&p=CC135_HUMAN&rb=266&re=872&var=R729L	deleterious(0.02)	H3BRX1_HUMAN,H3BQY5_HUMAN			YES	CCDC135,missense_variant,p.Arg729Leu,ENST00000360716,;CCDC135,missense_variant,p.Arg729Leu,ENST00000394337,NM_032269.5;CCDC135,missense_variant,p.Arg664Leu,ENST00000336825,;CCDC135,missense_variant,p.Arg282Leu,ENST00000562250,;CCDC135,non_coding_transcript_exon_variant,,ENST00000565609,;							MODERATE	2186/2625	R729L	CC135_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000353942		CCDS10787.1			1	
ERGIC1	0	LGGM	GRCh37	5	172341961	172341961	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000393784.3:c.375+120C>A		*125*	ENST00000393784	NM_001031711.2			0	1	1	UPI0000072178	0		ENST00000393784		ENSG00000113719	29205		18			HGNC	p.S120R		ERGIC1		SNV							ENST00000326654	protein_coding							A		-/2881							YES	ERGIC1,missense_variant,p.Ser120Arg,ENST00000326654,;ERGIC1,intron_variant,,ENST00000393784,NM_001031711.2;ERGIC1,intron_variant,,ENST00000520326,;ERGIC1,intron_variant,,ENST00000523291,;ERGIC1,intron_variant,,ENST00000518247,;ERGIC1,intron_variant,,ENST00000519567,;ERGIC1,intron_variant,,ENST00000519796,;ERGIC1,intron_variant,,ENST00000520642,;							MODIFIER	-/873		ERGI1_HUMAN			Transcript			.	ENSP00000377374		CCDS34292.1			1	
RAPH1	0	LGGM	GRCh37	2	204304631	204304631	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000319170.5:c.3282G>T	p.Ser1094=	p.S1094=	ENST00000319170	NM_213589.1	1094	tcG/tcT	0	1	1	UPI000020940F	0		ENST00000319170		ENSG00000173166	14436		12			HGNC	p.S1094S		RAPH1		SNV							ENST00000319170	protein_coding			hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF15		S		A		3582/9808				C9JLG4_HUMAN			YES	RAPH1,synonymous_variant,p.=,ENST00000319170,NM_213589.1;RAPH1,synonymous_variant,p.=,ENST00000374493,;ABI2,3_prime_UTR_variant,,ENST00000295851,NM_001282925.1;RAPH1,intron_variant,,ENST00000457812,;RAPH1,downstream_gene_variant,,ENST00000308091,NM_203365.2;RAPH1,downstream_gene_variant,,ENST00000374489,;RAPH1,downstream_gene_variant,,ENST00000374488,;RAPH1,downstream_gene_variant,,ENST00000453034,;RAPH1,downstream_gene_variant,,ENST00000423104,;RAPH1,downstream_gene_variant,,ENST00000439222,;RAPH1,downstream_gene_variant,,ENST00000418114,;RAPH1,downstream_gene_variant,,ENST00000419464,;ABI2,downstream_gene_variant,,ENST00000464761,;							LOW	3282/3753		RAPH1_HUMAN			Transcript			.	ENSP00000316543		CCDS2359.1			1	
CTR9	0	LGGM	GRCh37	11	10786178	10786178	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	3	.	.	ENST00000361367.2:c.1497G>T	p.Thr499=	p.T499=	ENST00000361367	NM_014633.3	499	acG/acT	0	1	1	UPI000006F32A	0		ENST00000361367		ENSG00000198730	16850		38			HGNC	p.T499T		CTR9		SNV							ENST00000361367	protein_coding			Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14027,hmmpanther:PTHR14027:SF2,SMART_domains:SM00028,Superfamily_domains:SSF48452		T		T		1923/4586							YES	CTR9,synonymous_variant,p.=,ENST00000361367,NM_014633.3;CTR9,downstream_gene_variant,,ENST00000524523,;CTR9,upstream_gene_variant,,ENST00000529355,;CTR9,upstream_gene_variant,,ENST00000526874,;							LOW	1497/3522		CTR9_HUMAN			Transcript			.	ENSP00000355013		CCDS7805.1			1	
DHRS9	0	LGGM	GRCh37	2	169939873	169939873	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	3	.	.	ENST00000327239.4:c.348C>A	p.Pro116=	p.P116=	ENST00000327239	NM_005771.4	116	ccC/ccA	0	1		UPI00000389D3	0		ENST00000357546		ENSG00000073737	16888		27			HGNC	p.P116P		DHRS9		SNV							ENST00000428522	protein_coding			hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF266,Gene3D:3.40.50.720,Pfam_domain:PF00106,Superfamily_domains:SSF51735		P		A		905/1917				Q53TL1_HUMAN,Q4ZG83_HUMAN,C9J430_HUMAN				DHRS9,synonymous_variant,p.=,ENST00000327239,NM_005771.4;DHRS9,synonymous_variant,p.=,ENST00000602501,;DHRS9,synonymous_variant,p.=,ENST00000357546,NM_199204.1;DHRS9,synonymous_variant,p.=,ENST00000436483,NM_001142270.1;DHRS9,synonymous_variant,p.=,ENST00000428522,;DHRS9,synonymous_variant,p.=,ENST00000412271,NM_001142271.1;DHRS9,synonymous_variant,p.=,ENST00000432060,;DHRS9,5_prime_UTR_variant,,ENST00000421653,;DHRS9,downstream_gene_variant,,ENST00000450153,;							LOW	348/960		DHRS9_HUMAN			Transcript			.	ENSP00000350154		CCDS2231.1			1	
UMODL1	0	LGGM	GRCh37	21	43496292	43496292	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	3	.	.	ENST00000408989.2:c.255C>A	p.Pro85=	p.P85=	ENST00000408989	NM_173568.3	85	ccC/ccA	0	1		UPI00006C2192	0		ENST00000408910		ENSG00000177398	12560		25			HGNC	p.P13P		UMODL1		SNV							ENST00000400424	protein_coding			Pfam_domain:PF07546,PROSITE_profiles:PS51041,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135		P		A		255/4878				Q6L9N9_HUMAN				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;							LOW	255/3957		UROL1_HUMAN			Transcript			.	ENSP00000386147		CCDS42936.1			1	
CROCC	0	LGGM	GRCh37	1	17296284	17296284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	3	.	.	ENST00000375541.5:c.5306G>T	p.Arg1769Leu	p.R1769L	ENST00000375541	NM_014675.3	1769	cGg/cTg	0	1	1	UPI00001AE5A0	0	NA	ENST00000375541		ENSG00000058453	21299		15	2.295		HGNC	p.R1769L		CROCC		SNV							ENST00000375541	protein_coding	getma.org/?cm=var&var=hg19,1,17296284,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF11		R/L		T	medium	5375/6656		getma.org/?cm=msa&ty=f&p=CROCC_HUMAN&rb=1761&re=2016&var=R1769L					YES	CROCC,missense_variant,p.Arg1769Leu,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,,ENST00000465291,;CROCC,intron_variant,,ENST00000465021,;MFAP2,downstream_gene_variant,,ENST00000490075,;							MODERATE	5306/6054	R1769L	CROCC_HUMAN			Transcript		benign(0.433)	.	ENSP00000364691		CCDS30616.1			1	
PRSS53	0	LGGM	GRCh37	16	31100111	31100111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000280606.6:c.20C>A	p.Pro7Gln	p.P7Q	ENST00000280606	NM_001039503.2	7	cCa/cAa	0	1	1	UPI000059D375	0	NA	ENST00000280606		ENSG00000151006	34407		7	0.975		HGNC	p.P7Q		PRSS53		SNV							ENST00000280606	protein_coding	getma.org/?cm=var&var=hg19,16,31100111,G,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,Superfamily_domains:SSF50494		P/Q		T	low	174/2181		getma.org/?cm=msa&ty=f&p=PRS53_HUMAN&rb=1&re=38&var=P7Q	tolerated_low_confidence(0.09)				YES	PRSS53,missense_variant,p.Pro7Gln,ENST00000280606,NM_001039503.2;RP11-196G11.1,intron_variant,,ENST00000529564,;RP11-196G11.1,intron_variant,,ENST00000532364,;ZNF646,downstream_gene_variant,,ENST00000394979,;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.3;VKORC1,downstream_gene_variant,,ENST00000319788,;VKORC1,downstream_gene_variant,,ENST00000394975,NM_024006.4;VKORC1,downstream_gene_variant,,ENST00000354895,NM_206824.1;VKORC1,downstream_gene_variant,,ENST00000300851,;VKORC1,downstream_gene_variant,,ENST00000498155,;VKORC1,downstream_gene_variant,,ENST00000420057,;VKORC1,downstream_gene_variant,,ENST00000394971,;VKORC1,downstream_gene_variant,,ENST00000472468,;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,;RP11-196G11.1,intron_variant,,ENST00000533518,;PRSS53,upstream_gene_variant,,ENST00000492427,;							MODERATE	20/1662	P7Q	PRS53_HUMAN			Transcript		benign(0.019)	.	ENSP00000280606		CCDS42153.1			1	
PCDH17	0	LGGM	GRCh37	13	58208966	58208966	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000377918.3:c.2286C>A	p.Ile762=	p.I762=	ENST00000377918	NM_001040429.2	762	atC/atA	0	1	1	UPI00001FCE5B	0		ENST00000377918		ENSG00000118946	14267		11			HGNC	p.I762I		PCDH17		SNV							ENST00000484979	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF41		I		A		2312/7523							YES	PCDH17,synonymous_variant,p.=,ENST00000377918,NM_001040429.2;PCDH17,synonymous_variant,p.=,ENST00000484979,;							LOW	2286/3480		PCD17_HUMAN			Transcript			.	ENSP00000367151		CCDS31986.1			1	
ZNF512B	0	LGGM	GRCh37	20	62598869	62598869	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	3	.	.	ENST00000450537.1:c.129G>T	p.Pro43=	p.P43=	ENST00000450537		43	ccG/ccT	0	1		UPI000013A290	0		ENST00000217130		ENSG00000196700	29212		23			HGNC	p.P43P	COSM3991860	ZNF512B		SNV						1	ENST00000217130	protein_coding			hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3		P		A		174/5910								ZNF512B,synonymous_variant,p.=,ENST00000450537,;ZNF512B,synonymous_variant,p.=,ENST00000369888,NM_020713.2;ZNF512B,synonymous_variant,p.=,ENST00000217130,;					1		LOW	129/2679		Z512B_HUMAN			Transcript			.	ENSP00000217130		CCDS13548.1			1	
HERC2	0	LGGM	GRCh37	15	28459348	28459348	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000261609.7:c.6429G>T	p.Ala2143=	p.A2143=	ENST00000261609	NM_004667.5	2143	gcG/gcT	0	1	1	UPI00004578F7	0		ENST00000261609		ENSG00000128731	4868		22			HGNC	p.A2143A		HERC2		SNV			1				ENST00000261609	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		A		A		6538/15337							YES	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;							LOW	6429/14505		HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
FANCA	0	LGGM	GRCh37	16	89882393	89882393	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	3	.	.	ENST00000389301.3:c.81G>T	p.Ala27=	p.A27=	ENST00000389301	NM_000135.2	27	gcG/gcT	0	1	1	UPI0000520A1A	0		ENST00000389301		ENSG00000187741	3582		23			HGNC	p.A27A		FANCA		SNV			1				ENST00000543736	protein_coding			hmmpanther:PTHR12047		A		A		112/5451				H3BT53_HUMAN			YES	FANCA,splice_region_variant,p.=,ENST00000389301,NM_000135.2;FANCA,splice_region_variant,p.=,ENST00000568369,NM_001286167.1;FANCA,splice_region_variant,p.=,ENST00000563673,;FANCA,splice_region_variant,p.=,ENST00000389302,NM_001018112.1;FANCA,splice_region_variant,p.=,ENST00000534992,;FANCA,splice_region_variant,p.=,ENST00000543736,;SPIRE2,upstream_gene_variant,,ENST00000564878,;SPIRE2,upstream_gene_variant,,ENST00000565103,;FANCA,splice_region_variant,,ENST00000567943,;FANCA,splice_region_variant,,ENST00000567883,;FANCA,splice_region_variant,p.=,ENST00000563513,;FANCA,non_coding_transcript_exon_variant,,ENST00000566889,;FANCA,upstream_gene_variant,,ENST00000565582,;							LOW	81/4368		FANCA_HUMAN			Transcript			.	ENSP00000373952		CCDS32515.1			1	
LATS1	0	LGGM	GRCh37	6	150005534	150005534	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	3	.	.	ENST00000253339.5:c.691G>T	p.Gly231Ter	p.G231*	ENST00000253339		231	Gga/Tga	0	1		UPI0000073DC2	0	NA	ENST00000253339		ENSG00000131023	6514		13	0		HGNC	p.G231X		LATS1		SNV							ENST00000253339	protein_coding	getma.org/?cm=var&var=hg19,6,150005534,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24356:SF138,hmmpanther:PTHR24356		G/*		A	NA	919/4256		NA						LATS1,stop_gained,p.Gly231Ter,ENST00000543571,NM_004690.3;LATS1,stop_gained,p.Gly231Ter,ENST00000253339,;LATS1,stop_gained,p.Gly231Ter,ENST00000392273,NM_001270519.1;LATS1,stop_gained,p.Gly177Ter,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;							HIGH	691/3393	G231*	LATS1_HUMAN			Transcript			.	ENSP00000253339		CCDS34551.1			1	
ANKS3	0	LGGM	GRCh37	16	4749102	4749102	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000304283.4:c.1360C>A	p.Arg454Ser	p.R454S	ENST00000304283	NM_133450.3	454	Cgc/Agc	0	1	1	UPI00001C08FE	0	getma.org/pdb.php?prot=ANKS3_HUMAN&from=422&to=485&var=R454S	ENST00000304283		ENSG00000168096	29422		17	0.735		HGNC	p.R381S		ANKS3		SNV							ENST00000585773	protein_coding	getma.org/?cm=var&var=hg19,16,4749102,G,T&fts=all		PROSITE_profiles:PS50105,hmmpanther:PTHR24184:SF6,hmmpanther:PTHR24184,Gene3D:1.10.150.50,Pfam_domain:PF07647,SMART_domains:SM00454,Superfamily_domains:SSF47769		R/S		T	neutral	1655/2662		getma.org/?cm=msa&ty=f&p=ANKS3_HUMAN&rb=422&re=485&var=R454S	deleterious(0.04)	K7ERR7_HUMAN,K7ERF3_HUMAN,K7EQE0_HUMAN,K7EKD2_HUMAN,K7EJY2_HUMAN,D3DUE4_HUMAN			YES	ANKS3,missense_variant,p.Arg454Ser,ENST00000304283,NM_133450.3;ANKS3,missense_variant,p.Arg325Ser,ENST00000446014,NM_001242929.1;ANKS3,missense_variant,p.Arg381Ser,ENST00000585773,;ANKS3,missense_variant,p.Arg119Ser,ENST00000588513,;ANKS3,downstream_gene_variant,,ENST00000450067,;NUDT16L1,downstream_gene_variant,,ENST00000405142,;NUDT16L1,downstream_gene_variant,,ENST00000586536,NM_001193452.1;NUDT16L1,downstream_gene_variant,,ENST00000304301,NM_032349.3;ANKS3,downstream_gene_variant,,ENST00000592421,;ANKS3,downstream_gene_variant,,ENST00000592698,;ANKS3,downstream_gene_variant,,ENST00000586605,;NUDT16L1,downstream_gene_variant,,ENST00000586252,;NUDT16L1,downstream_gene_variant,,ENST00000590460,;ANKS3,downstream_gene_variant,,ENST00000586166,;ANKS3,3_prime_UTR_variant,,ENST00000592077,;ANKS3,3_prime_UTR_variant,,ENST00000590193,;ANKS3,non_coding_transcript_exon_variant,,ENST00000591653,;ANKS3,non_coding_transcript_exon_variant,,ENST00000590803,;ANKS3,non_coding_transcript_exon_variant,,ENST00000589035,;ANKS3,non_coding_transcript_exon_variant,,ENST00000591185,;ANKS3,non_coding_transcript_exon_variant,,ENST00000588398,;ANKS3,downstream_gene_variant,,ENST00000590730,;ANKS3,downstream_gene_variant,,ENST00000592068,;ANKS3,downstream_gene_variant,,ENST00000592840,;							MODERATE	1360/1971	R454S	ANKS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304586		CCDS10520.1			1	
DOCK4	0	LGGM	GRCh37	7	111386441	111386441	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	3	.	.	ENST00000437633.1:c.4599C>A	p.His1533Gln	p.H1533Q	ENST00000437633	NM_014705.3	1533	caC/caA	0	1	1	UPI0000D5BB0D	0	getma.org/pdb.php?prot=DOCK4_HUMAN&from=1405&to=1588&var=H1533Q	ENST00000437633		ENSG00000128512	19192		27	2.855		HGNC	p.H1533Q		DOCK4		SNV							ENST00000437633	protein_coding	getma.org/?cm=var&var=hg19,7,111386441,G,T&fts=all		Pfam_domain:PF06920,PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75		H/Q		T	medium	4856/6212		getma.org/?cm=msa&ty=f&p=DOCK4_HUMAN&rb=1405&re=1588&var=H1533Q	deleterious(0.01)	Q75MU6_HUMAN			YES	DOCK4,missense_variant,p.His1542Gln,ENST00000428084,;DOCK4,missense_variant,p.His994Gln,ENST00000423057,;DOCK4,missense_variant,p.His1533Gln,ENST00000437633,NM_014705.3;DOCK4,missense_variant,p.His1566Gln,ENST00000445943,;DOCK4,missense_variant,p.His416Gln,ENST00000494651,;							MODERATE	4599/5901	H1533Q	DOCK4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000404179		CCDS47688.1			1	
GRHPR	0	LGGM	GRCh37	9	37430817	37430817	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	3	.	.	ENST00000318158.6:c.734+174G>T		*245*	ENST00000318158	NM_012203.1			0	1	1	UPI0000073E2F	0		ENST00000318158		ENSG00000137106	4570		6			HGNC	p.R303M		GRHPR		SNV			1				ENST00000377824	protein_coding							T		-/1280							YES	GRHPR,intron_variant,,ENST00000607784,;GRHPR,intron_variant,,ENST00000318158,NM_012203.1;GRHPR,intron_variant,,ENST00000460882,;GRHPR,intron_variant,,ENST00000491488,;GRHPR,intron_variant,,ENST00000482603,;GRHPR,downstream_gene_variant,,ENST00000493368,;GRHPR,downstream_gene_variant,,ENST00000487399,;GRHPR,upstream_gene_variant,,ENST00000512404,;GRHPR,missense_variant,p.Arg160Met,ENST00000494290,;GRHPR,non_coding_transcript_exon_variant,,ENST00000497693,;GRHPR,non_coding_transcript_exon_variant,,ENST00000377824,;GRHPR,intron_variant,,ENST00000480596,;CHCHD4P3,upstream_gene_variant,,ENST00000455954,;							MODIFIER	-/987		GRHPR_HUMAN			Transcript			.	ENSP00000313432		CCDS6609.1			1	
ATXN7L1	0	LGGM	GRCh37	7	105516996	105516996	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	3	.	.	ENST00000419735.3:c.9G>T	p.Ser3=	p.S3=	ENST00000419735	NM_020725.1	3	tcG/tcT	0	1	1	UPI000162C85E	0		ENST00000419735		ENSG00000146776	22210		15			HGNC	p.S3S		ATXN7L1		SNV							ENST00000419735	protein_coding					S		A		55/5417				F8WDE7_HUMAN			YES	ATXN7L1,synonymous_variant,p.=,ENST00000419735,NM_020725.1;ATXN7L1,synonymous_variant,p.=,ENST00000318724,NM_152749.3;ATXN7L1,upstream_gene_variant,,ENST00000478915,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000464874,;CDHR3,upstream_gene_variant,,ENST00000470188,;CDHR3,upstream_gene_variant,,ENST00000474330,;CDHR3,upstream_gene_variant,,ENST00000487084,;ATXN7L1,non_coding_transcript_exon_variant,,ENST00000481880,;CDHR3,upstream_gene_variant,,ENST00000488386,;							LOW	Sep-86		AT7L1_HUMAN			Transcript			.	ENSP00000410759		CCDS47682.1			1	
CDH4	0	LGGM	GRCh37	20	60419758	60419758	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000360469.5:c.611G>T	p.Arg204Leu	p.R204L	ENST00000360469	NM_001794.3	204	cGg/cTg	0	1	1	UPI000015FE86	0	getma.org/pdb.php?prot=CADH4_HUMAN&from=174&to=268&var=R204L	ENST00000360469		ENSG00000179242	1763		22	1.92		HGNC	p.R130L		CDH4		SNV							ENST00000543233	protein_coding	getma.org/?cm=var&var=hg19,20,60419758,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF81,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/L		T	medium	699/6511		getma.org/?cm=msa&ty=f&p=CADH4_HUMAN&rb=174&re=268&var=R204L	tolerated(0.44)	Q8ND09_HUMAN			YES	CDH4,missense_variant,p.Arg204Leu,ENST00000360469,NM_001794.3;CDH4,missense_variant,p.Arg130Leu,ENST00000543233,NM_001252339.1,NM_001252338.1;							MODERATE	611/2751	R204L	CADH4_HUMAN			Transcript		benign(0.097)	.	ENSP00000353656		CCDS13488.1			1	
BZW2	0	LGGM	GRCh37	7	16725646	16725646	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	3	.	.	ENST00000433922.2:c.522C>A	p.Thr174=	p.T174=	ENST00000433922	NM_001159767.1	174	acC/acA	0	1		UPI000003B445	0		ENST00000258761		ENSG00000136261	18808		15			HGNC	p.P168Q		BZW2		SNV							ENST00000436868	protein_coding			hmmpanther:PTHR14208:SF1,hmmpanther:PTHR14208		T		A		687/1860				Q75MG1_HUMAN,E7ETZ4_HUMAN,E7EMS9_HUMAN,C9JF98_HUMAN,B5MCH7_HUMAN,B5MCE7_HUMAN				BZW2,synonymous_variant,p.=,ENST00000433922,NM_001159767.1;BZW2,synonymous_variant,p.=,ENST00000258761,NM_014038.2;BZW2,synonymous_variant,p.=,ENST00000405202,;BZW2,synonymous_variant,p.=,ENST00000415365,;BZW2,synonymous_variant,p.=,ENST00000446596,;BZW2,synonymous_variant,p.=,ENST00000438834,;BZW2,intron_variant,,ENST00000452975,;BZW2,upstream_gene_variant,,ENST00000407633,;BZW2,downstream_gene_variant,,ENST00000430000,;BZW2,intron_variant,,ENST00000432311,;BZW2,missense_variant,p.Pro168Gln,ENST00000436868,;BZW2,non_coding_transcript_exon_variant,,ENST00000480517,;BZW2,intron_variant,,ENST00000437745,;							LOW	522/1260		BZW2_HUMAN			Transcript			.	ENSP00000258761		CCDS5362.1			1	
KRT85	0	LGGM	GRCh37	12	52757038	52757038	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000257901.3:c.943C>A	p.Arg315Ser	p.R315S	ENST00000257901	NM_002283.3	315	Cgt/Agt	0	1	1	UPI000006EB3B	0	getma.org/pdb.php?prot=KRT85_HUMAN&from=122&to=433&var=R315S	ENST00000257901		ENSG00000135443	6462		22	1.79		HGNC	p.R103S		KRT85		SNV			1				ENST00000544265	protein_coding	getma.org/?cm=var&var=hg19,12,52757038,G,T&fts=all		Pfam_domain:PF00038,hmmpanther:PTHR23239:SF92,hmmpanther:PTHR23239		R/S		T	low	1019/2447		getma.org/?cm=msa&ty=f&p=KRT85_HUMAN&rb=122&re=433&var=R315S	deleterious(0.01)				YES	KRT85,missense_variant,p.Arg315Ser,ENST00000257901,NM_002283.3;KRT85,missense_variant,p.Arg103Ser,ENST00000544265,;KRT85,non_coding_transcript_exon_variant,,ENST00000552537,;							MODERATE	943/1524	R315S	KRT85_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000257901		CCDS8824.1			1	
GNPTAB	0	LGGM	GRCh37	12	102151430	102151430	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000299314.7:c.3255G>T	p.Pro1085=	p.P1085=	ENST00000299314	NM_024312.4	1085	ccG/ccT	0	1	1	UPI000004CC0C	0		ENST00000299314		ENSG00000111670	29670		32			HGNC	p.P1085P		GNPTAB		SNV			1				ENST00000299314	protein_coding			hmmpanther:PTHR24045:SF0,hmmpanther:PTHR24045		P		A		3518/5701				Q9NV34_HUMAN,Q68CM9_HUMAN,F8VQW2_HUMAN			YES	GNPTAB,synonymous_variant,p.=,ENST00000299314,NM_024312.4;GNPTAB,synonymous_variant,p.=,ENST00000550718,;GNPTAB,synonymous_variant,p.=,ENST00000549738,;GNPTAB,non_coding_transcript_exon_variant,,ENST00000549194,;							LOW	3255/3771		GNPTA_HUMAN			Transcript			.	ENSP00000299314		CCDS9088.1			1	
RRAS	0	LGGM	GRCh37	19	50139946	50139946	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000246792.3:c.383G>T	p.Arg128Leu	p.R128L	ENST00000246792	NM_006270.3	128	cGg/cTg	0	1	1	UPI0000001255	0	getma.org/pdb.php?prot=RRAS_HUMAN&from=31&to=192&var=R128L	ENST00000246792		ENSG00000126458	10447		16	2.115		HGNC	p.R128L		RRAS		SNV			1				ENST00000246792	protein_coding	getma.org/?cm=var&var=hg19,19,50139946,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF232,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R/L		A	medium	486/1044		getma.org/?cm=msa&ty=f&p=RRAS_HUMAN&rb=31&re=192&var=R128L	deleterious(0.01)				YES	RRAS,missense_variant,p.Arg128Leu,ENST00000246792,NM_006270.3;RRAS,non_coding_transcript_exon_variant,,ENST00000601532,;							MODERATE	383/657	R128L	RRAS_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000246792		CCDS12774.1			1	
PCDHA9	0	LGGM	GRCh37	5	140228489	140228489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000532602.1:c.409C>A	p.Gln137Lys	p.Q137K	ENST00000532602	NM_031857.1	137	Caa/Aaa	0	1	1	UPI00001273D1	0	getma.org/pdb.php?prot=PCDA9_HUMAN&from=134&to=242&var=Q137K	ENST00000532602		ENSG00000204961	8675		7	0.64		HGNC	p.Q137K		PCDHA9		SNV							ENST00000378122	protein_coding	getma.org/?cm=var&var=hg19,5,140228489,C,A&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,Superfamily_domains:SSF49313		Q/K		A	neutral	1442/6293		getma.org/?cm=msa&ty=f&p=PCDA9_HUMAN&rb=134&re=242&var=Q137K	tolerated_low_confidence(0.13)				YES	PCDHA9,missense_variant,p.Gln137Lys,ENST00000378122,NM_014005.3;PCDHA9,missense_variant,p.Gln137Lys,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,;PCDHA6,intron_variant,,ENST00000527624,;							MODERATE	409/2853	Q137K	PCDA9_HUMAN			Transcript		benign(0.041)	.	ENSP00000436042		CCDS54920.1			1	
MAP1A	0	LGGM	GRCh37	15	43820015	43820015	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	3	.	.	ENST00000300231.5:c.6344G>T	p.Arg2115Leu	p.R2115L	ENST00000300231		2115	cGg/cTg	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		8	0.695		HGNC	p.R2115L		MAP1A		SNV							ENST00000399453	protein_coding	getma.org/?cm=var&var=hg19,15,43820015,G,T&fts=all		hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		R/L		T	neutral	6794/10258		getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=1578&re=2490&var=R2115L					YES	MAP1A,missense_variant,p.Arg2353Leu,ENST00000382031,;MAP1A,missense_variant,p.Arg2115Leu,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Arg2115Leu,ENST00000300231,;							MODERATE	6344/8412	R2115L	MAP1A_HUMAN			Transcript		benign(0.015)	.	ENSP00000300231		CCDS42031.1			1	
PIK3C2B	0	LGGM	GRCh37	1	204415218	204415218	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000367187.3:c.2544G>T	p.Ser848=	p.S848=	ENST00000367187	NM_002646.3	848	tcG/tcT	0	1	1	UPI00002056D1	0		ENST00000367187		ENSG00000133056	8972		19			HGNC	p.S848S		PIK3C2B		SNV							ENST00000424712	protein_coding			Gene3D:1.25.40.70,Pfam_domain:PF00613,PROSITE_profiles:PS51545,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30,SMART_domains:SM00145,Superfamily_domains:SSF48371		S		A		3101/7686				Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN			YES	PIK3C2B,synonymous_variant,p.=,ENST00000367187,NM_002646.3;PIK3C2B,synonymous_variant,p.=,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000479079,;							LOW	2544/4905		P3C2B_HUMAN			Transcript			.	ENSP00000356155		CCDS1446.1			1	
SLC35D2	0	LGGM	GRCh37	9	99099047	99099047	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000253270.7:c.704G>T	p.Trp235Leu	p.W235L	ENST00000253270	NM_007001.2	235	tGg/tTg	0	1	1	UPI000003778E	0	NA	ENST00000253270		ENSG00000130958	20799		11	1.89		HGNC	p.W235L		SLC35D2		SNV							ENST00000253270	protein_coding	getma.org/?cm=var&var=hg19,9,99099047,C,A&fts=all		hmmpanther:PTHR11132:SF46,hmmpanther:PTHR11132,Pfam_domain:PF03151		W/L		A	low	767/1613		getma.org/?cm=msa&ty=f&p=S35D2_HUMAN&rb=172&re=314&var=W235L	deleterious(0.01)	Q5VZJ2_HUMAN			YES	SLC35D2,missense_variant,p.Trp235Leu,ENST00000253270,NM_007001.2;SLC35D2,intron_variant,,ENST00000375259,NM_001286990.1;							MODERATE	704/1014	W235L	S35D2_HUMAN			Transcript		possibly_damaging(0.46)	.	ENSP00000253270		CCDS6717.1			1	
SCAI	0	LGGM	GRCh37	9	127757284	127757284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	3	.	.	ENST00000373549.4:c.1324G>T	p.Gly442Trp	p.G442W	ENST00000373549	NM_173690.4	442	Ggg/Tgg	0	1		UPI00002117CF	0	NA	ENST00000336505		ENSG00000173611	26709		13	2.545		HGNC	p.G442W		SCAI		SNV							ENST00000373549	protein_coding	getma.org/?cm=var&var=hg19,9,127757284,C,A&fts=all		Pfam_domain:PF12070,PIRSF_domain:PIRSF013022,hmmpanther:PTHR21243		G/W		A	medium	1314/12079		getma.org/?cm=msa&ty=f&p=SCAI_HUMAN&rb=63&re=558&var=G419W	deleterious(0)					SCAI,missense_variant,p.Gly419Trp,ENST00000336505,NM_001144877.2;SCAI,missense_variant,p.Gly442Trp,ENST00000373549,NM_173690.4;SCAI,downstream_gene_variant,,ENST00000487795,;SCAI,missense_variant,p.Gly419Trp,ENST00000477186,;SCAI,missense_variant,p.Gly16Trp,ENST00000467917,;							MODERATE	1255/1821	G419W	SCAI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336756		CCDS48017.1			1	
ERBB2	0	LGGM	GRCh37	17	37884211	37884211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000269571.5:c.3682C>A	p.Pro1228Thr	p.P1228T	ENST00000269571		1228	Cca/Aca	0	1	1	UPI000003F55F	0	NA	ENST00000269571		ENSG00000141736	3430		24	1.735		HGNC	p.P1213T		ERBB2		SNV			1				ENST00000541774	protein_coding	getma.org/?cm=var&var=hg19,17,37884211,C,A&fts=all		PIRSF_domain:PIRSF000619		P/T		A	low	3841/4545		getma.org/?cm=msa&ty=f&p=ERBB2_HUMAN&rb=977&re=1231&var=P1228T	deleterious(0.03)	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN			YES	ERBB2,missense_variant,p.Pro1198Thr,ENST00000406381,NM_001005862.1;ERBB2,missense_variant,p.Pro1198Thr,ENST00000584601,;ERBB2,missense_variant,p.Pro1198Thr,ENST00000540147,NM_004448.2;ERBB2,missense_variant,p.Pro1228Thr,ENST00000269571,;ERBB2,missense_variant,p.Pro1213Thr,ENST00000541774,;ERBB2,missense_variant,p.Pro952Thr,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,;							MODERATE	3682/3768	P1228T	ERBB2_HUMAN			Transcript		benign(0.001)	.	ENSP00000269571		CCDS32642.1			1	
GIT2	0	LGGM	GRCh37	12	110397744	110397744	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	3	.	.	ENST00000355312.3:c.1007G>T	p.Arg336Leu	p.R336L	ENST00000355312	NM_057169.3	336	cGg/cTg	0	1	1	UPI000012B4C5	0	NA	ENST00000355312		ENSG00000139436	4273		33	1.195		HGNC	p.R336L		GIT2		SNV							ENST00000338373	protein_coding	getma.org/?cm=var&var=hg19,12,110397744,C,A&fts=all		Pfam_domain:PF08518,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF215,SMART_domains:SM00555		R/L		A	low	1007/5456		getma.org/?cm=msa&ty=f&p=GIT2_HUMAN&rb=330&re=360&var=R336L	deleterious(0.03)				YES	GIT2,missense_variant,p.Arg336Leu,ENST00000360185,;GIT2,missense_variant,p.Arg336Leu,ENST00000355312,NM_057169.3;GIT2,missense_variant,p.Arg336Leu,ENST00000361006,NM_001135214.1;GIT2,missense_variant,p.Arg338Leu,ENST00000354574,NM_014776.3;GIT2,missense_variant,p.Arg336Leu,ENST00000338373,;GIT2,missense_variant,p.Arg338Leu,ENST00000457474,NM_001135213.1;GIT2,missense_variant,p.Arg336Leu,ENST00000356259,NM_057170.3;GIT2,missense_variant,p.Arg336Leu,ENST00000547815,NM_139201.2;GIT2,missense_variant,p.Arg336Leu,ENST00000553118,;GIT2,missense_variant,p.Arg335Leu,ENST00000551209,;GIT2,missense_variant,p.Arg336Leu,ENST00000320063,;GIT2,missense_variant,p.Arg274Leu,ENST00000550186,;GIT2,intron_variant,,ENST00000343646,;TCHP,intron_variant,,ENST00000550780,;GIT2,non_coding_transcript_exon_variant,,ENST00000551455,;GIT2,non_coding_transcript_exon_variant,,ENST00000547694,;GIT2,downstream_gene_variant,,ENST00000551721,;							MODERATE	1007/2280	R336L	GIT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347464		CCDS9138.1			1	
S1PR4	0	LGGM	GRCh37	19	3179763	3179763	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	3	.	.	ENST00000246115.3:c.973G>T	p.Gly325Trp	p.G325W	ENST00000246115	NM_003775.3	325	Ggg/Tgg	0	1	1	UPI0000050462	0	NA	ENST00000246115		ENSG00000125910	3170		23	0.695		HGNC	p.G325W		S1PR4		SNV							ENST00000246115	protein_coding	getma.org/?cm=var&var=hg19,19,3179763,G,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR01526,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF13,Superfamily_domains:SSF81321		G/W		T	neutral	1028/1594		getma.org/?cm=msa&ty=f&p=S1PR4_HUMAN&rb=308&re=384&var=G325W	tolerated(0.11)				YES	S1PR4,missense_variant,p.Gly325Trp,ENST00000246115,NM_003775.3;S1PR4,downstream_gene_variant,,ENST00000591346,;							MODERATE	973/1155	G325W	S1PR4_HUMAN			Transcript		possibly_damaging(0.735)	.	ENSP00000246115		CCDS12105.1			1	
LRRK1	0	LGGM	GRCh37	15	101608957	101608957	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000388948.3:c.5952C>A	p.Ala1984=	p.A1984=	ENST00000388948	NM_024652.3	1984	gcC/gcA	0	1	1	UPI0000D4FE63	0		ENST00000388948		ENSG00000154237	18608		18			HGNC	p.A1984A		LRRK1		SNV							ENST00000388948	protein_coding					A		A		6311/7671				E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN			YES	LRRK1,synonymous_variant,p.=,ENST00000284395,;LRRK1,synonymous_variant,p.=,ENST00000388948,NM_024652.3;RP11-505E24.2,intron_variant,,ENST00000559857,;LRRK1,non_coding_transcript_exon_variant,,ENST00000532145,;LRRK1,downstream_gene_variant,,ENST00000525395,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,3_prime_UTR_variant,,ENST00000526457,;							LOW	5952/6048		LRRK1_HUMAN			Transcript			.	ENSP00000373600		CCDS42086.1			1	
ADORA1	0	LGGM	GRCh37	1	203134969	203134969	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000367236.4:c.922C>A	p.Arg308Ser	p.R308S	ENST00000367236	NM_001048230.1	308	Cgc/Agc	0	1		UPI00000503E1	0	NA	ENST00000309502		ENSG00000163485	262		24	0.755		HGNC	p.R308S		ADORA1		SNV							ENST00000309502	protein_coding	getma.org/?cm=var&var=hg19,1,203134969,C,A&fts=all		hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF1,Superfamily_domains:SSF81321,Prints_domain:PR00552		R/S		A	neutral	1333/2896		getma.org/?cm=msa&ty=f&p=AA1R_HUMAN&rb=289&re=326&var=R308S	tolerated(0.08)					ADORA1,missense_variant,p.Arg308Ser,ENST00000367236,NM_001048230.1;ADORA1,missense_variant,p.Arg308Ser,ENST00000337894,NM_000674.2;ADORA1,missense_variant,p.Arg308Ser,ENST00000309502,;ADORA1,3_prime_UTR_variant,,ENST00000367235,;MYBPH,downstream_gene_variant,,ENST00000255416,NM_004997.2;ADORA1,non_coding_transcript_exon_variant,,ENST00000472535,;ADORA1,non_coding_transcript_exon_variant,,ENST00000467253,;ADORA1,downstream_gene_variant,,ENST00000464019,;							MODERATE	922/981	R308S	AA1R_HUMAN			Transcript		benign(0.015)	.	ENSP00000308549		CCDS1434.1			1	
SQLE	0	LGGM	GRCh37	8	126011796	126011796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000265896.5:c.151G>T	p.Gly51Trp	p.G51W	ENST00000265896	NM_003129.3	51	Ggg/Tgg	0	1	1	UPI0000073EEE	0	NA	ENST00000265896		ENSG00000104549	11279		32	1.78		HGNC	p.G51W		SQLE		SNV							ENST00000265896	protein_coding	getma.org/?cm=var&var=hg19,8,126011796,G,T&fts=all		Low_complexity_(Seg):seg		G/W		T	low	1049/2961		getma.org/?cm=msa&ty=f&p=ERG1_HUMAN&rb=1&re=124&var=G51W	tolerated_low_confidence(0.13)	Q9UNR6_HUMAN,H0YBN7_HUMAN,B4DHX0_HUMAN			YES	SQLE,missense_variant,p.Gly51Trp,ENST00000265896,NM_003129.3;SQLE,intron_variant,,ENST00000523430,;SQLE,intron_variant,,ENST00000521232,;RP11-6D1.3,upstream_gene_variant,,ENST00000523030,;							MODERATE	151/1725	G51W	ERG1_HUMAN			Transcript		benign(0.008)	.	ENSP00000265896		CCDS47918.1			1	
TOP1MT	0	LGGM	GRCh37	8	144391699	144391699	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	3	.	.	ENST00000329245.4:c.1718G>C	p.Arg573Thr	p.R573T	ENST00000329245	NM_052963.2	573	aGg/aCg	0	1	1	UPI000013716D	0	getma.org/pdb.php?prot=TOP1M_HUMAN&from=530&to=601&var=R573T	ENST00000329245		ENSG00000184428	29787		40	0.205		HGNC	p.R475T		TOP1MT		SNV							ENST00000523676	protein_coding	getma.org/?cm=var&var=hg19,8,144391699,C,G&fts=all		hmmpanther:PTHR10290,Pfam_domain:PF14370,Gene3D:1.10.132.10,SMART_domains:SM00435,Superfamily_domains:SSF56349		R/T		G	neutral	1753/1958		getma.org/?cm=msa&ty=f&p=TOP1M_HUMAN&rb=530&re=601&var=R573T	tolerated(0.14)	E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN			YES	TOP1MT,missense_variant,p.Arg475Thr,ENST00000523676,;TOP1MT,missense_variant,p.Arg475Thr,ENST00000521193,NM_001258446.1;TOP1MT,missense_variant,p.Arg573Thr,ENST00000329245,NM_052963.2;TOP1MT,missense_variant,p.Arg475Thr,ENST00000519148,NM_001258447.1;TOP1MT,missense_variant,p.Arg83Thr,ENST00000519977,;TOP1MT,non_coding_transcript_exon_variant,,ENST00000517857,;							MODERATE	1718/1806	R573T	TOP1M_HUMAN			Transcript		benign(0.001)	.	ENSP00000328835		CCDS6400.1			1	
HADHA	0	LGGM	GRCh37	2	26424038	26424038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	3	.	.	ENST00000380649.3:c.1372G>T	p.Val458Leu	p.V458L	ENST00000380649	NM_000182.4	458	Gtg/Ttg	0	1	1	UPI0000129B6B	0	getma.org/pdb.php?prot=ECHA_HUMAN&from=363&to=542&var=V458L	ENST00000380649		ENSG00000084754	4801		26	1.405		HGNC	p.V458L		HADHA		SNV			1				ENST00000380649	protein_coding	getma.org/?cm=var&var=hg19,2,26424038,C,A&fts=all		Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR02441,Pfam_domain:PF02737,Gene3D:3.40.50.720,hmmpanther:PTHR23309,hmmpanther:PTHR23309:SF9		V/L		A	low	1502/3037		getma.org/?cm=msa&ty=f&p=ECHA_HUMAN&rb=363&re=542&var=V458L	deleterious(0)	Q9UQC5_HUMAN,E9KL44_HUMAN,B4DDZ5_HUMAN			YES	HADHA,missense_variant,p.Val458Leu,ENST00000380649,NM_000182.4;							MODERATE	1372/2292	V458L	ECHA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370023		CCDS1721.1			1	
ROS1	0	LGGM	GRCh37	6	117710947	117710947	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	3	.	.	ENST00000368508.3:c.1325G>C	p.Arg442Pro	p.R442P	ENST00000368508	NM_002944.2	442	cGg/cCg	0	1	1	UPI000013D467	0	NA	ENST00000368508		ENSG00000047936	10261		37	0.805		HGNC	p.R442P		ROS1		SNV							ENST00000368508	protein_coding	getma.org/?cm=var&var=hg19,6,117710947,C,G&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304,Superfamily_domains:SSF63825		R/P		G	low	1524/7435		getma.org/?cm=msa&ty=f&p=ROS1_HUMAN&rb=401&re=600&var=R442P	tolerated(0.29)				YES	ROS1,missense_variant,p.Arg442Pro,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Arg451Pro,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;							MODERATE	1325/7044	R442P	ROS1_HUMAN			Transcript		benign(0.09)	.	ENSP00000357494		CCDS5116.1			1	
HINT1	0	LGGM	GRCh37	5	130500829	130500829	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	3	.	.	ENST00000304043.5:c.70C>A	p.Arg24Ser	p.R24S	ENST00000304043	NM_005340.6	24	Cgc/Agc	0	1	1	UPI000004F5CC	0	getma.org/pdb.php?prot=HINT1_HUMAN&from=24&to=121&var=R24S	ENST00000304043		ENSG00000169567	4912		27	1.09		HGNC	p.R24S		HINT1		SNV			1				ENST00000508495	protein_coding	getma.org/?cm=var&var=hg19,5,130500829,G,T&fts=all		PROSITE_profiles:PS51084,hmmpanther:PTHR23089:SF3,hmmpanther:PTHR23089,Pfam_domain:PF01230,Gene3D:3.30.428.10,Superfamily_domains:SSF54197,Prints_domain:PR00332		R/S		T	low	350/1081		getma.org/?cm=msa&ty=f&p=HINT1_HUMAN&rb=24&re=121&var=R24S	tolerated(0.15)				YES	HINT1,missense_variant,p.Arg24Ser,ENST00000304043,NM_005340.6;HINT1,missense_variant,p.Arg24Ser,ENST00000508488,;HINT1,missense_variant,p.Arg24Ser,ENST00000506908,;HINT1,missense_variant,p.Arg24Ser,ENST00000513012,;HINT1,upstream_gene_variant,,ENST00000520028,;HINT1,intron_variant,,ENST00000506207,;HINT1,missense_variant,p.Arg24Ser,ENST00000511475,;HINT1,missense_variant,p.Arg24Ser,ENST00000508495,;HINT1,missense_variant,p.Arg24Ser,ENST00000513345,;HINT1,missense_variant,p.Arg24Ser,ENST00000504202,;							MODERATE	70/381	R24S	HINT1_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000304229		CCDS4147.1			1	
IQCE	0	LGGM	GRCh37	7	2627479	2627479	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000402050.2:c.1012C>A	p.Arg338=	p.R338=	ENST00000402050	NM_152558.3	338	Cgg/Agg	0	1	1	UPI000020E9EF	0		ENST00000402050		ENSG00000106012	29171		22			HGNC	p.R287R		IQCE		SNV							ENST00000404984	protein_coding			hmmpanther:PTHR22590		R		A		1196/6844				C9JX25_HUMAN,C9JP75_HUMAN			YES	IQCE,synonymous_variant,p.=,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,synonymous_variant,p.=,ENST00000404984,;IQCE,synonymous_variant,p.=,ENST00000325979,;IQCE,synonymous_variant,p.=,ENST00000438376,NM_001287500.1;IQCE,synonymous_variant,p.=,ENST00000427817,;IQCE,downstream_gene_variant,,ENST00000497572,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;IQCE,upstream_gene_variant,,ENST00000490913,;							LOW	1012/2088		IQCE_HUMAN			Transcript			.	ENSP00000385597		CCDS43542.1			1	
TUBG1	0	LGGM	GRCh37	17	40762493	40762493	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000251413.3:c.215G>T	p.Arg72Leu	p.R72L	ENST00000251413	NM_001070.4	72	cGg/cTg	0	1	1	UPI0000136A56	0	getma.org/pdb.php?prot=TBG1_HUMAN&from=4&to=227&var=R72L	ENST00000251413		ENSG00000131462	12417		18	3.84		HGNC	p.R72L		TUBG1		SNV							ENST00000251413	protein_coding	getma.org/?cm=var&var=hg19,17,40762493,G,T&fts=all		Superfamily_domains:SSF52490,SMART_domains:SM00864,Pfam_domain:PF00091,Gene3D:3.40.50.1440,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF62		R/L		T	high	277/1611		getma.org/?cm=msa&ty=f&p=TBG1_HUMAN&rb=4&re=227&var=R72L	deleterious(0)				YES	TUBG1,missense_variant,p.Arg72Leu,ENST00000251413,NM_001070.4;TUBG1,missense_variant,p.Arg72Leu,ENST00000591509,;FAM134C,intron_variant,,ENST00000585894,;FAM134C,intron_variant,,ENST00000591547,;FAM134C,intron_variant,,ENST00000588423,;FAM134C,upstream_gene_variant,,ENST00000309428,NM_178126.3;FAM134C,upstream_gene_variant,,ENST00000543197,;TUBG1,missense_variant,p.Arg72Leu,ENST00000589688,;TUBG1,non_coding_transcript_exon_variant,,ENST00000589613,;TUBG1,non_coding_transcript_exon_variant,,ENST00000588056,;FAM134C,upstream_gene_variant,,ENST00000589797,;FAM134C,upstream_gene_variant,,ENST00000586870,;FAM134C,upstream_gene_variant,,ENST00000586796,;FAM134C,upstream_gene_variant,,ENST00000593251,;FAM134C,upstream_gene_variant,,ENST00000585726,;FAM134C,upstream_gene_variant,,ENST00000590541,;							MODERATE	215/1356	R72L	TBG1_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000251413		CCDS11433.1			1	
PNPO	0	LGGM	GRCh37	17	46024047	46024047	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	3	.	.	ENST00000225573.4:c.685C>A	p.Arg229=	p.R229=	ENST00000225573	NM_018129.3	229	Cgg/Agg	0	1	1	UPI000004A13F	0		ENST00000225573		ENSG00000108439	30260		20			HGNC	p.R134R		PNPO		SNV			1				ENST00000534893	protein_coding			HAMAP:MF_01629,hmmpanther:PTHR10851,hmmpanther:PTHR10851:SF1,PROSITE_patterns:PS01064,TIGRFAM_domain:TIGR00558,Gene3D:2.30.110.10,Pfam_domain:PF10590,PIRSF_domain:PIRSF000190,Superfamily_domains:SSF50475		R		A		790/2397				J3QQZ9_HUMAN,J3QQV6_HUMAN,B4E0V0_HUMAN			YES	PNPO,synonymous_variant,p.=,ENST00000225573,NM_018129.3;PNPO,synonymous_variant,p.=,ENST00000434554,;PNPO,synonymous_variant,p.=,ENST00000544840,;PNPO,synonymous_variant,p.=,ENST00000534893,;PNPO,downstream_gene_variant,,ENST00000583599,;RP11-6N17.6,downstream_gene_variant,,ENST00000582142,;RP11-6N17.6,downstream_gene_variant,,ENST00000580372,;RP11-6N17.9,intron_variant,,ENST00000582262,;PNPO,3_prime_UTR_variant,,ENST00000582171,;PNPO,3_prime_UTR_variant,,ENST00000585320,;PNPO,non_coding_transcript_exon_variant,,ENST00000584806,;PNPO,downstream_gene_variant,,ENST00000583245,;PNPO,downstream_gene_variant,,ENST00000584061,;							LOW	685/786		PNPO_HUMAN			Transcript			.	ENSP00000225573		CCDS11522.1			1	
EME2	0	LGGM	GRCh37	16	1825592	1825592	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000568449.1:c.686G>T	p.Trp229Leu	p.W229L	ENST00000568449	NM_001257370.1	229	tGg/tTg	0	1	1	UPI0000F57C10	0	getma.org/pdb.php?prot=H3BV62_HUMAN&from=1&to=191&var=W41L	ENST00000568449		ENSG00000197774	27289		9	1.1		HGNC	p.W280L		EME2		SNV							ENST00000307394	protein_coding	getma.org/?cm=var&var=hg19,16,1825592,G,T&fts=all		hmmpanther:PTHR21077,hmmpanther:PTHR21077:SF2,Pfam_domain:PF02732,SMART_domains:SM00891		W/L		T	low	707/1234		getma.org/?cm=msa&ty=f&p=H3BV62_HUMAN&rb=1&re=191&var=W41L	tolerated(0.09)				YES	EME2,missense_variant,p.Trp280Leu,ENST00000307394,;EME2,missense_variant,p.Trp229Leu,ENST00000568449,NM_001257370.1;SPSB3,downstream_gene_variant,,ENST00000566339,NM_080861.3;SPSB3,downstream_gene_variant,,ENST00000301717,;NME3,upstream_gene_variant,,ENST00000219302,NM_002513.2;MRPS34,upstream_gene_variant,,ENST00000177742,;MRPS34,upstream_gene_variant,,ENST00000397375,NM_023936.1;NME3,upstream_gene_variant,,ENST00000563498,;NME3,upstream_gene_variant,,ENST00000564628,;SPSB3,downstream_gene_variant,,ENST00000569769,;EME2,missense_variant,p.Trp40Leu,ENST00000561903,;EME2,non_coding_transcript_exon_variant,,ENST00000570069,;EME2,non_coding_transcript_exon_variant,,ENST00000561564,;EME2,non_coding_transcript_exon_variant,,ENST00000565326,;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,;SPSB3,downstream_gene_variant,,ENST00000563705,;NME3,upstream_gene_variant,,ENST00000568561,;NME3,upstream_gene_variant,,ENST00000567271,;SPSB3,downstream_gene_variant,,ENST00000564070,;MRPS34,upstream_gene_variant,,ENST00000569585,;NME3,upstream_gene_variant,,ENST00000564252,;NME3,upstream_gene_variant,,ENST00000563854,;EME2,upstream_gene_variant,,ENST00000564182,;							MODERATE	686/1140	W41L	EME2_HUMAN			Transcript		benign(0.015)	.	ENSP00000457353		CCDS58404.1			1	
FAM198A	0	LGGM	GRCh37	3	43096960	43096960	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	3	.	.	ENST00000430121.2:c.1450G>T	p.Asp484Tyr	p.D484Y	ENST00000430121	NM_001129908.2	484	Gat/Tat	0	1		UPI000016146E	0	NA	ENST00000273146		ENSG00000144649	24485		29	2.6		HGNC	p.D484Y		FAM198A		SNV							ENST00000273146	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,3,43096960,G,T&fts=all		Pfam_domain:PF15051,hmmpanther:PTHR15905:SF5,hmmpanther:PTHR15905		D/Y		T	medium	1826/2628		getma.org/?cm=msa&ty=f&p=F198A_HUMAN&rb=229&re=571&var=D484Y	deleterious(0.01)					FAM198A,missense_variant,p.Asp484Tyr,ENST00000430121,NM_001129908.2;FAM198A,missense_variant,p.Asp55Tyr,ENST00000488863,;FAM198A,missense_variant,p.Asp484Tyr,ENST00000273146,;KRBOX1,3_prime_UTR_variant,,ENST00000443313,;FAM198A,downstream_gene_variant,,ENST00000434206,;FAM198A,downstream_gene_variant,,ENST00000492161,;							MODERATE	1450/1728	D484Y	F198A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000273146		CCDS46808.1			1	
SLC4A3	0	LGGM	GRCh37	2	220501085	220501085	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000373762.3:c.2334C>A	p.Gly778=	p.G778=	ENST00000373762	NM_005070.3	778	ggC/ggA	0	1		UPI000013D998	0		ENST00000317151		ENSG00000114923	11029		19			HGNC	p.G778G		SLC4A3		SNV							ENST00000273063	protein_coding			Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF15,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix		G		A		2371/4069								SLC4A3,synonymous_variant,p.=,ENST00000358055,;SLC4A3,synonymous_variant,p.=,ENST00000373762,NM_005070.3;SLC4A3,synonymous_variant,p.=,ENST00000273063,NM_201574.2;SLC4A3,synonymous_variant,p.=,ENST00000373760,;SLC4A3,synonymous_variant,p.=,ENST00000317151,;SLC4A3,downstream_gene_variant,,ENST00000413743,;SLC4A3,downstream_gene_variant,,ENST00000497589,;SLC4A3,3_prime_UTR_variant,,ENST00000425141,;SLC4A3,3_prime_UTR_variant,,ENST00000416910,;SLC4A3,downstream_gene_variant,,ENST00000444906,;							LOW	2253/3699		B3A3_HUMAN			Transcript			.	ENSP00000314006		CCDS2445.1			1	
USP38	0	LGGM	GRCh37	4	144135492	144135492	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090284	H090284N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	3	.	.	ENST00000307017.4:c.2363T>G	p.Leu788Arg	p.L788R	ENST00000307017	NM_032557.5	788	cTg/cGg	0	1	1	UPI0000047AF9	0	getma.org/pdb.php?prot=UBP38_HUMAN&from=442&to=946&var=L788R	ENST00000307017		ENSG00000170185	20067		50	1.895		HGNC	p.L788R		USP38		SNV							ENST00000307017	protein_coding	getma.org/?cm=var&var=hg19,4,144135492,T,G&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF386,Superfamily_domains:SSF54001		L/R		G	low	2869/7009		getma.org/?cm=msa&ty=f&p=UBP38_HUMAN&rb=442&re=946&var=L788R	tolerated(0.48)	B3KSB9_HUMAN			YES	USP38,missense_variant,p.Leu788Arg,ENST00000307017,NM_032557.5;USP38,missense_variant,p.Leu788Arg,ENST00000510377,;USP38,3_prime_UTR_variant,,ENST00000511739,;							MODERATE	2363/3129	L788R	UBP38_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000303434		CCDS3758.1			1	
CRMP1	0	LGGM	GRCh37	4	5838533	5838533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	3	.	.	ENST00000324989.7:c.1411G>T	p.Gly471Trp	p.G471W	ENST00000324989	NM_001014809.1	471	Ggg/Tgg	0	1		UPI0000047FA2	0	getma.org/pdb.php?prot=DPYL1_HUMAN&from=64&to=413&var=G357W	ENST00000397890		ENSG00000072832	2365		19	4.015		HGNC	p.G357W		CRMP1		SNV							ENST00000534845	protein_coding	getma.org/?cm=var&var=hg19,4,5838533,C,A&fts=all		Gene3D:3.20.20.140,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF54,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR02033		G/W		A	high	1284/2911		getma.org/?cm=msa&ty=f&p=DPYL1_HUMAN&rb=64&re=413&var=G357W	deleterious(0)	Q96I11_HUMAN,B3KT07_HUMAN				CRMP1,missense_variant,p.Gly471Trp,ENST00000324989,NM_001014809.1;CRMP1,missense_variant,p.Gly357Trp,ENST00000397890,NM_001313.3;CRMP1,missense_variant,p.Gly355Trp,ENST00000512574,NM_001288661.1;CRMP1,non_coding_transcript_exon_variant,,ENST00000511535,;CRMP1,non_coding_transcript_exon_variant,,ENST00000506216,;							MODERATE	1069/1719	G357W	DPYL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380987		CCDS43207.1			1	
LRBA	0	LGGM	GRCh37	4	151199140	151199140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	3	.	.	ENST00000357115.3:c.8366G>T	p.Arg2789Leu	p.R2789L	ENST00000357115	NM_006726.4	2789	cGa/cTa	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		29	2.165		HGNC	p.R2789L		LRBA		SNV			1				ENST00000357115	protein_coding	getma.org/?cm=var&var=hg19,4,151199140,C,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/L		A	medium	8610/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=2671&re=2863&var=R2789L	deleterious(0.01)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Arg2778Leu,ENST00000535741,;LRBA,missense_variant,p.Arg2777Leu,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Arg2789Leu,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Arg1431Leu,ENST00000509835,;LRBA,intron_variant,,ENST00000508606,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;LRBA,non_coding_transcript_exon_variant,,ENST00000515096,;LRBA,non_coding_transcript_exon_variant,,ENST00000510157,;							MODERATE	8366/8592	R2789L	LRBA_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000349629		CCDS3773.1			1	
ZCWPW1	0	LGGM	GRCh37	7	99998809	99998809	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	3	.	.	ENST00000398027.2:c.1775G>T	p.Arg592Leu	p.R592L	ENST00000398027	NM_017984.4	592	cGg/cTg	0	1	1	UPI000014146E	0	NA	ENST00000398027		ENSG00000078487	23486		10	0.345		HGNC	p.R592L		ZCWPW1		SNV							ENST00000398027	protein_coding	getma.org/?cm=var&var=hg19,7,99998809,C,A&fts=all		hmmpanther:PTHR15999:SF2,hmmpanther:PTHR15999		R/L		A	neutral	2023/2356		getma.org/?cm=msa&ty=f&p=ZCPW1_HUMAN&rb=563&re=648&var=R592L	tolerated(0.06)				YES	ZCWPW1,missense_variant,p.Arg592Leu,ENST00000398027,NM_017984.4;ZCWPW1,missense_variant,p.Arg421Leu,ENST00000324725,;ZCWPW1,missense_variant,p.Gly522Trp,ENST00000360951,NM_001258008.1;ZCWPW1,missense_variant,p.Arg421Leu,ENST00000490721,;ZCWPW1,missense_variant,p.Gly244Trp,ENST00000471336,;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;PILRA,downstream_gene_variant,,ENST00000432297,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000490089,;ZCWPW1,non_coding_transcript_exon_variant,,ENST00000479315,;							MODERATE	1775/1947	R592L	ZCPW1_HUMAN			Transcript		benign(0)	.	ENSP00000381109		CCDS43623.1			1	
FAHD2B	0	LGGM	GRCh37	2	97757260	97757260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000414820.1:c.184C>A	p.Leu62Ile	p.L62I	ENST00000414820		62	Ctc/Atc	0	1		UPI000004D29E	0	NA	ENST00000272610		ENSG00000144199	25318		11	1.57		HGNC	p.L62I	rs368420774	FAHD2B		SNV							ENST00000440566	protein_coding	getma.org/?cm=var&var=hg19,2,97757260,G,T&fts=all		hmmpanther:PTHR11820:SF77,hmmpanther:PTHR11820		L/I		T	low	372/1305		getma.org/?cm=msa&ty=f&p=FAH2B_HUMAN&rb=1&re=106&var=L62I	tolerated(0.65)					FAHD2B,missense_variant,p.Leu62Ile,ENST00000414820,;FAHD2B,missense_variant,p.Leu62Ile,ENST00000272610,NM_199336.1;FAHD2B,missense_variant,p.Leu62Ile,ENST00000440566,;FAHD2B,intron_variant,,ENST00000468548,;FAHD2B,non_coding_transcript_exon_variant,,ENST00000483657,;FAHD2B,intron_variant,,ENST00000463096,;FAHD2B,intron_variant,,ENST00000474849,;							MODERATE	184/945	L62I	FAH2B_HUMAN			Transcript		benign(0.083)	.	ENSP00000272610		CCDS2030.1			1	
LOXHD1	0	LGGM	GRCh37	18	44118133	44118133	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000300591.6:c.748C>A	p.Arg250Ser	p.R250S	ENST00000300591	NM_001145472.2	250	Cgc/Agc	0	1	1	UPI0000456B8D	0	getma.org/pdb.php?prot=LOXH1_HUMAN&from=1030&to=1153&var=R1083S	ENST00000300591		ENSG00000167210	26521		9	0.105		HGNC	p.R250S		LOXHD1		SNV			1				ENST00000300591	protein_coding	getma.org/?cm=var&var=hg19,18,44118133,G,T&fts=all		PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF110,Gene3D:2.60.60.20,Pfam_domain:PF01477,Superfamily_domains:SSF49723		R/S		T	neutral	1162/3970		getma.org/?cm=msa&ty=f&p=LOXH1_HUMAN&rb=1030&re=1153&var=R1083S	tolerated(0.13)	C9J269_HUMAN,C9IYQ1_HUMAN			YES	LOXHD1,missense_variant,p.Arg1361Ser,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Arg1155Ser,ENST00000441551,;LOXHD1,missense_variant,p.Arg1083Ser,ENST00000398722,;LOXHD1,missense_variant,p.Arg250Ser,ENST00000300591,NM_001145472.2;LOXHD1,missense_variant,p.Arg250Ser,ENST00000582408,;LOXHD1,missense_variant,p.Arg294Ser,ENST00000441893,;LOXHD1,missense_variant,p.Arg154Ser,ENST00000579038,;LOXHD1,missense_variant,p.Arg263Ser,ENST00000536111,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;							MODERATE	748/3345	R1083S	LOXH1_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000300591		CCDS45861.1			1	
MCF2L	0	LGGM	GRCh37	13	113730402	113730402	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000535094.2:c.1431G>T	p.Ala477=	p.A477=	ENST00000535094	NM_001112732.2	477	gcG/gcT	0	1		UPI0000458952	0		ENST00000375608		ENSG00000126217	14576		17			HGNC	p.A483A		MCF2L		SNV							ENST00000434480	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF115		A		T		1579/3648				B7ZBR9_HUMAN				MCF2L,synonymous_variant,p.=,ENST00000397030,;MCF2L,synonymous_variant,p.=,ENST00000375601,;MCF2L,synonymous_variant,p.=,ENST00000375604,;MCF2L,synonymous_variant,p.=,ENST00000397017,;MCF2L,synonymous_variant,p.=,ENST00000535094,NM_001112732.2;MCF2L,synonymous_variant,p.=,ENST00000375608,;MCF2L,synonymous_variant,p.=,ENST00000423482,NM_024979.4;MCF2L,synonymous_variant,p.=,ENST00000434480,;MCF2L,synonymous_variant,p.=,ENST00000421756,;MCF2L,synonymous_variant,p.=,ENST00000442652,;MCF2L,synonymous_variant,p.=,ENST00000375597,;MCF2L,downstream_gene_variant,,ENST00000475524,;							LOW	1521/3414		MCF2L_HUMAN			Transcript			.	ENSP00000364758					1	
SH3TC1	0	LGGM	GRCh37	4	8217887	8217887	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000245105.3:c.531G>T	p.Trp177Cys	p.W177C	ENST00000245105	NM_018986.3	177	tgG/tgT	0	1	1	UPI000013CB93	0	NA	ENST00000245105		ENSG00000125089	26009		12	2.215		HGNC	p.W101C		SH3TC1		SNV							ENST00000509119	protein_coding	getma.org/?cm=var&var=hg19,4,8217887,G,T&fts=all		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3		W/C		T	medium	598/4226		getma.org/?cm=msa&ty=f&p=S3TC1_HUMAN&rb=1&re=784&var=W177C	deleterious(0)	F5GXD3_HUMAN,E7EQR1_HUMAN,D6RC98_HUMAN			YES	SH3TC1,missense_variant,p.Trp101Cys,ENST00000539824,;SH3TC1,missense_variant,p.Trp177Cys,ENST00000245105,NM_018986.3;SH3TC1,missense_variant,p.Trp101Cys,ENST00000509119,;SH3TC1,downstream_gene_variant,,ENST00000457650,;SH3TC1,upstream_gene_variant,,ENST00000508641,;SH3TC1,downstream_gene_variant,,ENST00000503284,;SH3TC1,downstream_gene_variant,,ENST00000510763,;SH3TC1,missense_variant,p.Trp152Cys,ENST00000502669,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,3_prime_UTR_variant,,ENST00000507891,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000506360,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000512100,;SH3TC1,downstream_gene_variant,,ENST00000504223,;							MODERATE	531/4011	W177C	S3TC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000245105		CCDS3399.1			1	
WDR87	0	LGGM	GRCh37	19	38375722	38375722	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000303868.5:c.8472G>T	p.Ala2824=	p.A2824=	ENST00000303868	NM_031951.3	2824	gcG/gcT	0	1	1	UPI0001662BC1	0		ENST00000303868		ENSG00000171804	29934		21			HGNC	p.A2863A		WDR87		SNV							ENST00000447313	protein_coding					A		A		8697/8847				B4DXE9_HUMAN			YES	WDR87,synonymous_variant,p.=,ENST00000447313,;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.3;							LOW	8472/8622		WDR87_HUMAN			Transcript			.	ENSP00000368025		CCDS46063.1			1	
MCL1	0	LGGM	GRCh37	1	150551447	150551447	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	3	.	.	ENST00000369026.2:c.560G>T	p.Arg187Leu	p.R187L	ENST00000369026	NM_021960.4	187	cGg/cTg	0	1	1	UPI000006D775	0	getma.org/pdb.php?prot=MCL1_HUMAN&from=1&to=200&var=R187L	ENST00000369026		ENSG00000143384	6943		28	1.1		HGNC	p.R187L		MCL1		SNV							ENST00000369026	protein_coding	getma.org/?cm=var&var=hg19,1,150551447,C,A&fts=all		hmmpanther:PTHR11256:SF6,hmmpanther:PTHR11256,Gene3D:1.10.437.10,Superfamily_domains:SSF56854		R/L		A	low	620/3932		getma.org/?cm=msa&ty=f&p=MCL1_HUMAN&rb=1&re=200&var=R187L	tolerated(0.06)	B4DG83_HUMAN			YES	MCL1,missense_variant,p.Arg187Leu,ENST00000369026,NM_021960.4,NM_001197320.1;MCL1,missense_variant,p.Arg187Leu,ENST00000307940,NM_182763.2;MCL1,upstream_gene_variant,,ENST00000464132,;							MODERATE	560/1053	R187L	MCL1_HUMAN			Transcript		benign(0.014)	.	ENSP00000358022		CCDS957.1			1	
ACE	0	LGGM	GRCh37	17	61570998	61570998	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000290866.4:c.3114G>T	p.Leu1038=	p.L1038=	ENST00000290866	NM_000789.3	1038	ctG/ctT	0	1	1	UPI000002B8AD	0		ENST00000290866		ENSG00000159640	2707		12			HGNC	p.L464L		ACE		SNV			1				ENST00000490216	protein_coding			hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486		L		T		3138/4199				Q3KRI5_HUMAN,D3DU13_HUMAN			YES	ACE,synonymous_variant,p.=,ENST00000490216,;ACE,synonymous_variant,p.=,ENST00000290866,NM_000789.3;ACE,synonymous_variant,p.=,ENST00000428043,;ACE,synonymous_variant,p.=,ENST00000290863,NM_152830.2;ACE,synonymous_variant,p.=,ENST00000413513,NM_001178057.1;ACE,synonymous_variant,p.=,ENST00000421982,;ACE,intron_variant,,ENST00000582761,;ACE,upstream_gene_variant,,ENST00000579409,;ACE,intron_variant,,ENST00000577418,;ACE,synonymous_variant,p.=,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,non_coding_transcript_exon_variant,,ENST00000584865,;ACE,downstream_gene_variant,,ENST00000582005,;ACE,downstream_gene_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000579204,;ACE,upstream_gene_variant,,ENST00000582244,;ACE,upstream_gene_variant,,ENST00000578679,;							LOW	3114/3921		ACE_HUMAN			Transcript			.	ENSP00000290866		CCDS11637.1			1	
KAT2A	0	LGGM	GRCh37	17	40269797	40269797	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000225916.5:c.1327G>T	p.Glu443Ter	p.E443*	ENST00000225916	NM_021078.2	443	Gag/Tag	0	1	1	UPI000000D978	0	NA	ENST00000225916		ENSG00000108773	4201		9	0		HGNC	p.E443X		KAT2A		SNV							ENST00000225916	protein_coding	getma.org/?cm=var&var=hg19,17,40269797,C,A&fts=all		hmmpanther:PTHR22880:SF124,hmmpanther:PTHR22880,PIRSF_domain:PIRSF003048		E/*		A	NA	1381/3109		NA		K7ERS6_HUMAN			YES	KAT2A,stop_gained,p.Glu443Ter,ENST00000225916,NM_021078.2;CTD-2132N18.3,downstream_gene_variant,,ENST00000592574,;HSPB9,upstream_gene_variant,,ENST00000355067,NM_033194.2;KAT2A,3_prime_UTR_variant,,ENST00000465682,;KAT2A,upstream_gene_variant,,ENST00000586972,;CTD-2132N18.3,downstream_gene_variant,,ENST00000592248,;CTD-2132N18.3,downstream_gene_variant,,ENST00000585562,;KAT2A,upstream_gene_variant,,ENST00000592310,;KAT2A,upstream_gene_variant,,ENST00000588759,;							HIGH	1327/2514	E443*	KAT2A_HUMAN			Transcript			.	ENSP00000225916		CCDS11417.1			1	
NUP85	0	LGGM	GRCh37	17	73227712	73227712	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000245544.4:c.1223C>A	p.Ser408Ter	p.S408*	ENST00000245544	NM_024844.3	408	tCg/tAg	0	1	1	UPI00000735DC	0	NA	ENST00000245544		ENSG00000125450	8734		22	0		HGNC	p.S408X		NUP85		SNV							ENST00000245544	protein_coding	getma.org/?cm=var&var=hg19,17,73227712,C,A&fts=all		hmmpanther:PTHR13373:SF21,hmmpanther:PTHR13373,Pfam_domain:PF07575		S/*		A	NA	1294/2121		NA		J3QL54_HUMAN,J3KSH3_HUMAN,F5H0W7_HUMAN,B4DMQ3_HUMAN			YES	NUP85,stop_gained,p.Ser240Ter,ENST00000447371,;NUP85,stop_gained,p.Ser408Ter,ENST00000245544,NM_024844.3;NUP85,stop_gained,p.Ser296Ter,ENST00000579324,;NUP85,stop_gained,p.Ser362Ter,ENST00000541827,;NUP85,stop_gained,p.Ser11Ter,ENST00000540768,;NUP85,stop_gained,p.Ser363Ter,ENST00000579298,;NUP85,stop_gained,p.Ser104Ter,ENST00000583070,;NUP85,stop_gained,p.Ser181Ter,ENST00000579557,;GGA3,downstream_gene_variant,,ENST00000245541,NM_138619.2;GGA3,downstream_gene_variant,,ENST00000351904,NM_014001.3;NUP85,upstream_gene_variant,,ENST00000579900,;NUP85,upstream_gene_variant,,ENST00000579838,;NUP85,downstream_gene_variant,,ENST00000449421,;NUP85,downstream_gene_variant,,ENST00000581335,;NUP85,3_prime_UTR_variant,,ENST00000581104,;NUP85,3_prime_UTR_variant,,ENST00000578830,;NUP85,3_prime_UTR_variant,,ENST00000580879,;NUP85,non_coding_transcript_exon_variant,,ENST00000577645,;NUP85,non_coding_transcript_exon_variant,,ENST00000582681,;GGA3,downstream_gene_variant,,ENST00000582200,;GGA3,downstream_gene_variant,,ENST00000584978,;GGA3,downstream_gene_variant,,ENST00000537584,;GGA3,downstream_gene_variant,,ENST00000578275,;NUP85,upstream_gene_variant,,ENST00000578987,;NUP85,upstream_gene_variant,,ENST00000578294,;NUP85,upstream_gene_variant,,ENST00000584155,;							HIGH	1223/1971	S408*	NUP85_HUMAN			Transcript			.	ENSP00000245544		CCDS32730.1			1	
DFNB31	0	LGGM	GRCh37	9	117166332	117166332	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000362057.3:c.2262G>T	p.Ser754=	p.S754=	ENST00000362057	NM_001173425.1	754	tcG/tcT	0	1	1	UPI00001C1EA6	0		ENST00000362057		ENSG00000095397	16361		32			HGNC	p.S403S		DFNB31		SNV			1				ENST00000374059	protein_coding			hmmpanther:PTHR23116:SF31,hmmpanther:PTHR23116		S		A		2431/3566							YES	DFNB31,synonymous_variant,p.=,ENST00000362057,NM_001173425.1,NM_015404.3;DFNB31,synonymous_variant,p.=,ENST00000374059,;DFNB31,synonymous_variant,p.=,ENST00000265134,NM_001083885.2;							LOW	2262/2724		WHRN_HUMAN			Transcript			.	ENSP00000354623		CCDS6806.1			1	
ISX	0	LGGM	GRCh37	22	35478534	35478534	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	3	.	.	ENST00000308700.6:c.253G>T	p.Val85Phe	p.V85F	ENST00000308700	NM_001008494.1	85	Gtt/Ttt	0	1	1	UPI00001BE8E5	0	getma.org/pdb.php?prot=ISX_HUMAN&from=83&to=139&var=V85F	ENST00000308700		ENSG00000175329	28084		28	1.14		HGNC	p.V85F		ISX		SNV							ENST00000404699	protein_coding	getma.org/?cm=var&var=hg19,22,35478534,G,T&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR24329:SF272,hmmpanther:PTHR24329,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689		V/F		T	low	1205/3384		getma.org/?cm=msa&ty=f&p=ISX_HUMAN&rb=83&re=139&var=V85F	tolerated(0.09)				YES	ISX,missense_variant,p.Val85Phe,ENST00000308700,NM_001008494.1;ISX,missense_variant,p.Val85Phe,ENST00000404699,;							MODERATE	253/738	V85F	ISX_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000311492		CCDS33640.1			1	
KIAA0947	0	LGGM	GRCh37	5	5465004	5465004	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	3	.	.	ENST00000296564.7:c.5557G>T	p.Gly1853Trp	p.G1853W	ENST00000296564	NM_015325.2	1853	Ggg/Tgg	0	1	1	UPI00015542F9	0	NA	ENST00000296564		ENSG00000164151	29154		10	1.1		HGNC	p.G1853W		KIAA0947		SNV							ENST00000296564	protein_coding	getma.org/?cm=var&var=hg19,5,5465004,G,T&fts=all		hmmpanther:PTHR11852,hmmpanther:PTHR11852:SF3		G/W		T	low	5779/7927		getma.org/?cm=msa&ty=f&p=K0947_HUMAN&rb=1581&re=2265&var=G1853W	deleterious(0.01)				YES	KIAA0947,missense_variant,p.Gly1853Trp,ENST00000296564,NM_015325.2;							MODERATE	5557/6801	G1853W	K0947_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000296564		CCDS47187.1			1	
EPHB2	0	LGGM	GRCh37	1	23191569	23191569	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	3	.	.	ENST00000374632.3:c.1167C>A	p.Thr389=	p.T389=	ENST00000374632		389	acC/acA	0	1		UPI0000033EC3	0		ENST00000400191		ENSG00000133216	3393		25			HGNC	p.T389T		EPHB2		SNV			1				ENST00000400191	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,SMART_domains:SM00060,Superfamily_domains:SSF49265		T		A		1185/4641								EPHB2,synonymous_variant,p.=,ENST00000400191,NM_004442.6,NM_017449.3;EPHB2,synonymous_variant,p.=,ENST00000374627,;EPHB2,synonymous_variant,p.=,ENST00000374632,;EPHB2,synonymous_variant,p.=,ENST00000374630,;EPHB2,synonymous_variant,p.=,ENST00000544305,;MIR4253,upstream_gene_variant,,ENST00000581187,;EPHB2,non_coding_transcript_exon_variant,,ENST00000465676,;EPHB2,upstream_gene_variant,,ENST00000490436,;							LOW	1167/3168		EPHB2_HUMAN			Transcript			.	ENSP00000383053					1	
CCT2	0	LGGM	GRCh37	12	69980061	69980061	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	3	.	.	ENST00000299300.6:c.15C>G	p.Ser5=	p.S5=	ENST00000299300	NM_006431.2	5	tcC/tcG	0	1	1	UPI0000136AF3	0		ENST00000299300		ENSG00000166226	1615		44			HGNC	p.S5S		CCT2		SNV							ENST00000299300	protein_coding			hmmpanther:PTHR11353		S		G		203/2041				Q9H369_HUMAN			YES	CCT2,synonymous_variant,p.=,ENST00000299300,NM_006431.2;CCT2,synonymous_variant,p.=,ENST00000544368,;CCT2,5_prime_UTR_variant,,ENST00000543146,NM_001198842.1;MIR3913-1,upstream_gene_variant,,ENST00000577744,;CCT2,synonymous_variant,p.=,ENST00000550010,;CCT2,non_coding_transcript_exon_variant,,ENST00000551620,;CCT2,non_coding_transcript_exon_variant,,ENST00000550638,;CCT2,non_coding_transcript_exon_variant,,ENST00000546859,;CCT2,non_coding_transcript_exon_variant,,ENST00000551899,;CCT2,non_coding_transcript_exon_variant,,ENST00000549933,;CCT2,non_coding_transcript_exon_variant,,ENST00000550455,;CCT2,upstream_gene_variant,,ENST00000548787,;CCT2,upstream_gene_variant,,ENST00000546850,;							LOW	15/1608		TCPB_HUMAN			Transcript			.	ENSP00000299300		CCDS8991.1			1	
EDC4	0	LGGM	GRCh37	16	67911239	67911239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000358933.5:c.571C>A	p.Gln191Lys	p.Q191K	ENST00000358933	NM_014329.4	191	Cag/Aag	0	1	1	UPI0000141377	0	NA	ENST00000358933		ENSG00000038358	17157		24	0.755		HGNC	p.Q191K		EDC4		SNV							ENST00000358933	protein_coding	getma.org/?cm=var&var=hg19,16,67911239,C,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR15598,SMART_domains:SM00320,Superfamily_domains:SSF50978		Q/K		A	neutral	810/4800		getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=1&re=200&var=Q191K	tolerated(0.46)				YES	EDC4,missense_variant,p.Gln191Lys,ENST00000358933,NM_014329.4;NUTF2,downstream_gene_variant,,ENST00000219169,NM_005796.1;AC040162.1,upstream_gene_variant,,ENST00000408599,;EDC4,non_coding_transcript_exon_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000536072,;EDC4,upstream_gene_variant,,ENST00000573992,;NUTF2,downstream_gene_variant,,ENST00000587481,;EDC4,upstream_gene_variant,,ENST00000575514,;EDC4,upstream_gene_variant,,ENST00000577028,;EDC4,upstream_gene_variant,,ENST00000576972,;EDC4,upstream_gene_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575507,;EDC4,upstream_gene_variant,,ENST00000572724,;							MODERATE	571/4206	Q191K	EDC4_HUMAN			Transcript		benign(0.304)	.	ENSP00000351811		CCDS10849.1			1	
POPDC2	0	LGGM	GRCh37	3	119378824	119378824	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	3	.	.	ENST00000264231.3:c.447G>C	p.Glu149Asp	p.E149D	ENST00000264231	NM_022135.2	149	gaG/gaC	0	1	1	UPI000000DAC2	0	NA	ENST00000264231		ENSG00000121577	17648		46	2.595		HGNC	p.E149D		POPDC2		SNV							ENST00000493094	protein_coding	getma.org/?cm=var&var=hg19,3,119378824,C,G&fts=all		Pfam_domain:PF04831,hmmpanther:PTHR12101,hmmpanther:PTHR12101:SF15,Superfamily_domains:SSF51206		E/D		G	medium	614/1679		getma.org/?cm=msa&ty=f&p=POPD2_HUMAN&rb=107&re=260&var=E149D	deleterious(0.01)				YES	POPDC2,missense_variant,p.Glu149Asp,ENST00000493094,;POPDC2,missense_variant,p.Glu149Asp,ENST00000264231,NM_022135.2;POPDC2,missense_variant,p.Glu149Asp,ENST00000468801,;POPDC2,missense_variant,p.Glu149Asp,ENST00000538678,;POPDC2,non_coding_transcript_exon_variant,,ENST00000474523,;POPDC2,non_coding_transcript_exon_variant,,ENST00000468916,;POPDC2,non_coding_transcript_exon_variant,,ENST00000463323,;POPDC2,missense_variant,p.Glu149Asp,ENST00000341124,;COX17,3_prime_UTR_variant,,ENST00000490145,;COX17,downstream_gene_variant,,ENST00000468918,;							MODERATE	447/1095	E149D	POPD2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000264231		CCDS2992.1			1	
TMEM200A	0	LGGM	GRCh37	6	130762134	130762134	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	3	.	.	ENST00000392429.1:c.567G>C	p.Met189Ile	p.M189I	ENST00000392429	NM_052913.2	189	atG/atC	0	1		UPI000000DA85	0	NA	ENST00000296978		ENSG00000164484	21075		38	1.39		HGNC	p.M189I		TMEM200A		SNV							ENST00000545622	protein_coding	getma.org/?cm=var&var=hg19,6,130762134,G,C&fts=all		hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF0		M/I		C	low	1438/3512		getma.org/?cm=msa&ty=f&p=T200A_HUMAN&rb=162&re=275&var=M189I	tolerated(0.4)	B4DG12_HUMAN,A8K2A1_HUMAN				TMEM200A,missense_variant,p.Met189Ile,ENST00000392429,NM_052913.2;TMEM200A,missense_variant,p.Met189Ile,ENST00000296978,NM_001258277.1,NM_001258276.1,NM_001258278.1;TMEM200A,missense_variant,p.Met189Ile,ENST00000545622,;							MODERATE	567/1476	M189I	T200A_HUMAN			Transcript		benign(0.001)	.	ENSP00000296978		CCDS5140.1			1	
MMS19	0	LGGM	GRCh37	10	99229946	99229946	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	3	.	.	ENST00000438925.2:c.786G>T	p.Leu262=	p.L262=	ENST00000438925	NM_022362.4	262	ctG/ctT	0	1		UPI000013DDF7	0		ENST00000370782		ENSG00000155229	13824		42			HGNC	p.L262L		MMS19		SNV							ENST00000438925	protein_coding			hmmpanther:PTHR12891,Pfam_domain:PF14500,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		L		A		857/3532								MMS19,synonymous_variant,p.=,ENST00000438925,NM_022362.4;MMS19,synonymous_variant,p.=,ENST00000370782,;MMS19,synonymous_variant,p.=,ENST00000355839,;MMS19,synonymous_variant,p.=,ENST00000327238,;MMS19,synonymous_variant,p.=,ENST00000437002,;MMS19,5_prime_UTR_variant,,ENST00000327277,;MMS19,upstream_gene_variant,,ENST00000434538,;MMS19,downstream_gene_variant,,ENST00000422685,;MMS19,non_coding_transcript_exon_variant,,ENST00000483626,;MMS19,3_prime_UTR_variant,,ENST00000415383,;MMS19,3_prime_UTR_variant,,ENST00000441194,;MMS19,upstream_gene_variant,,ENST00000434392,;							LOW	786/3093		MMS19_HUMAN			Transcript			.	ENSP00000359818		CCDS7464.1			1	
CSF3R	0	LGGM	GRCh37	1	36932201	36932201	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	2	3	.	.	ENST00000361632.4:c.2268G>T	p.Leu756=	p.L756=	ENST00000361632		756	ctG/ctT	0	1		UPI000004CAC4	0		ENST00000361632		ENSG00000119535	2439		5			HGNC	p.W725L		CSF3R		SNV			1				ENST00000338937	protein_coding			hmmpanther:PTHR23036:SF75,hmmpanther:PTHR23036		L		A		2330/2886				E9PK56_HUMAN				CSF3R,missense_variant,p.Trp725Leu,ENST00000338937,;CSF3R,synonymous_variant,p.=,ENST00000373103,NM_156039.3;CSF3R,synonymous_variant,p.=,ENST00000373106,NM_000760.3;CSF3R,synonymous_variant,p.=,ENST00000361632,;CSF3R,synonymous_variant,p.=,ENST00000418048,;CSF3R,synonymous_variant,p.=,ENST00000440588,;CSF3R,synonymous_variant,p.=,ENST00000464465,;CSF3R,intron_variant,,ENST00000373104,NM_172313.2;CSF3R,intron_variant,,ENST00000331941,;MRPS15,upstream_gene_variant,,ENST00000373116,NM_031280.3;CSF3R,non_coding_transcript_exon_variant,,ENST00000487540,;MRPS15,upstream_gene_variant,,ENST00000462067,;CSF3R,non_coding_transcript_exon_variant,,ENST00000480825,;CSF3R,non_coding_transcript_exon_variant,,ENST00000484762,;CSF3R,downstream_gene_variant,,ENST00000464365,;CSF3R,downstream_gene_variant,,ENST00000466138,;							LOW	2268/2511		CSF3R_HUMAN			Transcript			.	ENSP00000355406		CCDS413.1			1	
MGAT4B	0	LGGM	GRCh37	5	179228995	179228995	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000337755.5:c.117C>A	p.Leu39=	p.L39=	ENST00000337755	NM_054013.3	39	ctC/ctA	0	1		UPI000006FDB8	0		ENST00000292591		ENSG00000161013	7048		22			HGNC	p.L39L		MGAT4B		SNV							ENST00000520918	protein_coding							T		-/2446				E5RFS3_HUMAN				MGAT4B,synonymous_variant,p.=,ENST00000337755,NM_054013.3;MGAT4B,intron_variant,,ENST00000292591,NM_014275.4;MGAT4B,intron_variant,,ENST00000523108,;SQSTM1,upstream_gene_variant,,ENST00000376929,NM_001142298.1,NM_001142299.1;MGAT4B,upstream_gene_variant,,ENST00000519836,;MGAT4B,upstream_gene_variant,,ENST00000518778,;MGAT4B,upstream_gene_variant,,ENST00000520969,;MGAT4B,upstream_gene_variant,,ENST00000518980,;MGAT4B,upstream_gene_variant,,ENST00000520875,;SQSTM1,upstream_gene_variant,,ENST00000514093,;MGAT4B,upstream_gene_variant,,ENST00000518867,;MIR1229,upstream_gene_variant,,ENST00000408467,;MGAT4B,intron_variant,,ENST00000521305,;MGAT4B,intron_variant,,ENST00000520134,;MGAT4B,intron_variant,,ENST00000519616,;SQSTM1,upstream_gene_variant,,ENST00000506042,;MGAT4B,downstream_gene_variant,,ENST00000520019,;MGAT4B,upstream_gene_variant,,ENST00000523382,;MGAT4B,upstream_gene_variant,,ENST00000522293,;MGAT4B,downstream_gene_variant,,ENST00000519965,;MGAT4B,synonymous_variant,p.=,ENST00000520918,;MGAT4B,intron_variant,,ENST00000518168,;MGAT4B,intron_variant,,ENST00000523329,;MGAT4B,upstream_gene_variant,,ENST00000520822,;MGAT4B,upstream_gene_variant,,ENST00000521855,;MGAT4B,upstream_gene_variant,,ENST00000522451,;MGAT4B,upstream_gene_variant,,ENST00000518702,;							MODIFIER	-/1647		MGT4B_HUMAN			Transcript			.	ENSP00000292591		CCDS4448.1			1	
SALL4	0	LGGM	GRCh37	20	50405521	50405521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	3	.	.	ENST00000217086.4:c.2621G>T	p.Arg874Leu	p.R874L	ENST00000217086	NM_020436.3	874	cGg/cTg	0	1	1	UPI0000135527	0	NA	ENST00000217086		ENSG00000101115	15924		27	1.1		HGNC	p.R437L		SALL4		SNV			1				ENST00000395997	protein_coding	getma.org/?cm=var&var=hg19,20,50405521,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/L		A	low	2733/3497		getma.org/?cm=msa&ty=f&p=SALL4_HUMAN&rb=829&re=883&var=R874L	tolerated(0.31)				YES	SALL4,missense_variant,p.Arg874Leu,ENST00000217086,NM_020436.3;SALL4,missense_variant,p.Arg437Leu,ENST00000395997,;SALL4,missense_variant,p.Arg97Leu,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;							MODERATE	2621/3162	R874L	SALL4_HUMAN			Transcript		benign(0.31)	.	ENSP00000217086		CCDS13438.1			1	
CELSR3	0	LGGM	GRCh37	3	48677392	48677392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	3	.	.	ENST00000164024.4:c.9626G>T	p.Ser3209Ile	p.S3209I	ENST00000164024	NM_001407.2	3209	aGc/aTc	0	1	1	UPI00001AE5A6	0	NA	ENST00000164024		ENSG00000008300	3230		8	0.895		HGNC	p.S3214I		CELSR3		SNV							ENST00000544264	protein_coding	getma.org/?cm=var&var=hg19,3,48677392,C,A&fts=all				S/I		A	low	9907/11956		getma.org/?cm=msa&ty=f&p=CELR3_HUMAN&rb=3168&re=3312&var=S3209I	deleterious_low_confidence(0.01)	B4DSQ9_HUMAN			YES	CELSR3,missense_variant,p.Ser3214Ile,ENST00000544264,;CELSR3,missense_variant,p.Ser3209Ile,ENST00000164024,NM_001407.2;SLC26A6,upstream_gene_variant,,ENST00000420764,NM_134263.2,NM_022911.2;SLC26A6,upstream_gene_variant,,ENST00000395550,;SLC26A6,upstream_gene_variant,,ENST00000383733,NM_134426.2;SLC26A6,upstream_gene_variant,,ENST00000455886,NM_001281732.1;SLC26A6,upstream_gene_variant,,ENST00000337000,NM_001281733.1;SLC26A6,upstream_gene_variant,,ENST00000431739,;SLC26A6,upstream_gene_variant,,ENST00000426599,;MIR4793,downstream_gene_variant,,ENST00000577502,;CELSR3,non_coding_transcript_exon_variant,,ENST00000498057,;CELSR3,non_coding_transcript_exon_variant,,ENST00000461362,;SLC26A6,upstream_gene_variant,,ENST00000307364,;CELSR3,downstream_gene_variant,,ENST00000470999,;							MODERATE	9626/9939	S3209I	CELR3_HUMAN			Transcript		benign(0.333)	.	ENSP00000164024		CCDS2775.1			1	
BRD1	0	LGGM	GRCh37	22	50216605	50216605	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000216267.8:c.1361C>A	p.Pro454Gln	p.P454Q	ENST00000216267	NM_014577.1	454	cCg/cAg	0	1	1	UPI0000126ACA	0	NA	ENST00000216267		ENSG00000100425	1102		21	0.865		HGNC	p.P454Q	rs539096139	BRD1		SNV							ENST00000404034	protein_coding	getma.org/?cm=var&var=hg19,22,50216605,G,T&fts=all	A:0	hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17		P/Q		T	low	1848/4614	1.50E-05	getma.org/?cm=msa&ty=f&p=BRD1_HUMAN&rb=389&re=570&var=P454Q	tolerated(0.12)	Q659H0_HUMAN	A:0	A:0.001	YES	BRD1,missense_variant,p.Pro454Gln,ENST00000216267,NM_014577.1;BRD1,missense_variant,p.Pro454Gln,ENST00000404760,;BRD1,missense_variant,p.Pro454Gln,ENST00000457780,;BRD1,missense_variant,p.Pro454Gln,ENST00000404034,;BRD1,missense_variant,p.Pro93Gln,ENST00000542442,;BRD1,5_prime_UTR_variant,,ENST00000342989,;BRD1,non_coding_transcript_exon_variant,,ENST00000459821,;BRD1,non_coding_transcript_exon_variant,,ENST00000494833,;BRD1,missense_variant,p.Pro86Gln,ENST00000438393,;		A:0.0002					MODERATE	1361/3177	P454Q	BRD1_HUMAN		A:0	Transcript		possibly_damaging(0.885)	.	ENSP00000216267	8.24E-06	CCDS14080.1		A:0	1	
PRRT4	0	LGGM	GRCh37	7	127999409	127999409	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	2	3	.	.	ENST00000446477.2:c.637C>A	p.Arg213Ser	p.R213S	ENST00000446477	NM_001174164.1	213	Cgc/Agc	0	1	1	UPI0000DD7E1D	0	NA	ENST00000446477		ENSG00000224940	37280		5	0.69		HGNC	p.R213S		PRRT4		SNV							ENST00000535159	protein_coding	getma.org/?cm=var&var=hg19,7,127999409,G,T&fts=all				R/S		T	neutral	951/3544		getma.org/?cm=msa&ty=f&p=PRRT4_HUMAN&rb=1&re=897&var=R213S	deleterious_low_confidence(0)	C9JWH6_HUMAN,C9JVX5_HUMAN,C9JQT1_HUMAN			YES	PRRT4,missense_variant,p.Arg213Ser,ENST00000446477,NM_001174164.1;PRRT4,missense_variant,p.Arg213Ser,ENST00000535159,;PRRT4,missense_variant,p.Arg213Ser,ENST00000489835,NM_001114726.2;PRRT4,missense_variant,p.Arg213Ser,ENST00000435512,;PRRT4,missense_variant,p.Arg213Ser,ENST00000489517,;PRRT4,missense_variant,p.Arg95Ser,ENST00000480290,;PRRT4,downstream_gene_variant,,ENST00000464607,;PRRT4,downstream_gene_variant,,ENST00000495931,;							MODERATE	637/2700	R213S	PRRT4_HUMAN			Transcript		unknown(0)	.	ENSP00000415026		CCDS55160.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67314627	67314627	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000360461.5:c.513C>A	p.Ser171=	p.S171=	ENST00000360461	NM_001129727.1	171	tcC/tcA	0	1	1	UPI000013C774	0		ENST00000360461		ENSG00000196155	24501		24			HGNC	p.S171S		PLEKHG4		SNV			1				ENST00000360461	protein_coding					S		A		3048/6782				H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,synonymous_variant,p.=,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,synonymous_variant,p.=,ENST00000379344,NM_001129729.1;PLEKHG4,synonymous_variant,p.=,ENST00000427155,NM_001129728.1;PLEKHG4,intron_variant,,ENST00000450733,NM_001129731.1;PLEKHG4,intron_variant,,ENST00000562744,;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,3_prime_UTR_variant,,ENST00000563969,;PLEKHG4,3_prime_UTR_variant,,ENST00000393966,;							LOW	513/3576		PKHG4_HUMAN			Transcript			.	ENSP00000353646		CCDS32466.1			1	
NUP62	0	LGGM	GRCh37	19	50412836	50412836	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	3	.	.	ENST00000596217.1:c.229G>C	p.Gly77Arg	p.G77R	ENST00000596217		77	Gga/Cga	0	1		UPI000013EAFD	0	NA	ENST00000352066		ENSG00000213024	8066		43	2.85		HGNC	p.G77R		NUP62		SNV			1				ENST00000597029	protein_coding	getma.org/?cm=var&var=hg19,19,50412836,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12084:SF2,hmmpanther:PTHR12084		G/R		G	medium	834/2870		getma.org/?cm=msa&ty=f&p=NUP62_HUMAN&rb=1&re=200&var=G77R	deleterious(0)	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN				NUP62,missense_variant,p.Gly77Arg,ENST00000596217,;NUP62,missense_variant,p.Gly77Arg,ENST00000422090,NM_001193357.1;NUP62,missense_variant,p.Gly77Arg,ENST00000413454,NM_153718.3,NM_012346.4;NUP62,missense_variant,p.Gly77Arg,ENST00000352066,NM_016553.4;NUP62,missense_variant,p.Gly77Arg,ENST00000597029,;NUP62,missense_variant,p.Gly77Arg,ENST00000597723,;NUP62,missense_variant,p.Gly77Arg,ENST00000593652,;NUP62,missense_variant,p.Gly77Arg,ENST00000599567,;NUP62,missense_variant,p.Gly77Arg,ENST00000600645,;NUP62,missense_variant,p.Gly77Arg,ENST00000595761,;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,,ENST00000596437,;NUP62,downstream_gene_variant,,ENST00000600935,;NUP62,downstream_gene_variant,,ENST00000599788,;NUP62,downstream_gene_variant,,ENST00000594673,;NUP62,downstream_gene_variant,,ENST00000596680,;NUP62,intron_variant,,ENST00000595463,;NUP62,downstream_gene_variant,,ENST00000600583,;NUP62,downstream_gene_variant,,ENST00000595373,;NUP62,downstream_gene_variant,,ENST00000599830,;NUP62,downstream_gene_variant,,ENST00000598301,;NUP62,downstream_gene_variant,,ENST00000599560,;NUP62,downstream_gene_variant,,ENST00000601665,;NUP62,downstream_gene_variant,,ENST00000597814,;NUP62,downstream_gene_variant,,ENST00000599186,;CTC-326K19.6,3_prime_UTR_variant,,ENST00000451973,;IL4I1,intron_variant,,ENST00000601717,;							MODERATE	229/1569	G77R	NUP62_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305503		CCDS12788.1			1	
KPRP	0	LGGM	GRCh37	1	152733639	152733639	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000368773.1:c.1575C>A	p.Thr525=	p.T525=	ENST00000368773	NM_001025231.1	525	acC/acA	0	1		UPI0000199942	0		ENST00000606109		ENSG00000203786	31823		22			HGNC	p.T525T		KPRP		SNV							ENST00000368773	protein_coding			hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF98		T		A		1603/2492								KPRP,synonymous_variant,p.=,ENST00000368773,NM_001025231.1;KPRP,synonymous_variant,p.=,ENST00000606109,;							LOW	1575/1740		KPRP_HUMAN			Transcript			.	ENSP00000475216		CCDS30862.1			1	
F11	0	LGGM	GRCh37	4	187205340	187205340	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	3	.	.	ENST00000403665.2:c.1230C>G	p.Pro410=	p.P410=	ENST00000403665	NM_000128.3	410	ccC/ccG	0	1	1	UPI000000D8B7	0		ENST00000403665		ENSG00000088926	3529		31			HGNC	p.P358P		F11		SNV			1				ENST00000264692	protein_coding			Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF81,PROSITE_profiles:PS50240		P		G		1582/2396				Q9UEG0_HUMAN,D6RB32_HUMAN			YES	F11,synonymous_variant,p.=,ENST00000264692,;F11,synonymous_variant,p.=,ENST00000403665,NM_000128.3;F11,downstream_gene_variant,,ENST00000452239,;F11,upstream_gene_variant,,ENST00000264691,;F11-AS1,downstream_gene_variant,,ENST00000505103,;F11,upstream_gene_variant,,ENST00000503841,;							LOW	1230/1878		FA11_HUMAN			Transcript			.	ENSP00000384957		CCDS3847.1			1	
TRPC7	0	LGGM	GRCh37	5	135692690	135692690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	3	.	.	ENST00000513104.1:c.386C>A	p.Pro129Gln	p.P129Q	ENST00000513104	NM_020389.2	129	cCg/cAg	0	1	1	UPI000004F27A	0	getma.org/pdb.php?prot=TRPC7_HUMAN&from=49&to=139&var=P129Q	ENST00000513104		ENSG00000069018	20754		26	1.345		HGNC	p.P129Q		TRPC7		SNV							ENST00000426057	protein_coding	getma.org/?cm=var&var=hg19,5,135692690,G,T&fts=all		Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870,Gene3D:1.25.40.20,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9		P/Q		T	low	669/2987		getma.org/?cm=msa&ty=f&p=TRPC7_HUMAN&rb=49&re=139&var=P129Q	tolerated(0.09)				YES	TRPC7,missense_variant,p.Pro129Gln,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Pro129Gln,ENST00000355180,NM_001167577.1;TRPC7,missense_variant,p.Pro129Gln,ENST00000426057,NM_001167576.1;TRPC7,missense_variant,p.Pro129Gln,ENST00000502753,;TRPC7,missense_variant,p.Pro129Gln,ENST00000378459,;TRPC7,missense_variant,p.Pro129Gln,ENST00000352189,;TRPC7,missense_variant,p.Pro129Gln,ENST00000503275,;TRPC7,missense_variant,p.Pro129Gln,ENST00000514963,;							MODERATE	386/2589	P129Q	TRPC7_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000426070		CCDS47267.2			1	
ST6GALNAC6	0	LGGM	GRCh37	9	130652937	130652937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	3	.	.	ENST00000373146.1:c.683G>T	p.Arg228Leu	p.R228L	ENST00000373146		228	cGg/cTg	0	1		UPI0000073734	0	getma.org/pdb.php?prot=SIA7F_HUMAN&from=58&to=328&var=R228L	ENST00000291839		ENSG00000160408	23364		10	1.15		HGNC	p.R228L		ST6GALNAC6		SNV							ENST00000373146	protein_coding	getma.org/?cm=var&var=hg19,9,130652937,C,A&fts=all		Pfam_domain:PF00777,hmmpanther:PTHR13713:SF45,hmmpanther:PTHR13713		R/L		A	low	714/2310		getma.org/?cm=msa&ty=f&p=SIA7F_HUMAN&rb=58&re=328&var=R228L						ST6GALNAC6,missense_variant,p.Arg228Leu,ENST00000373146,;ST6GALNAC6,missense_variant,p.Arg228Leu,ENST00000373142,NM_013443.3,NM_001286999.1;ST6GALNAC6,missense_variant,p.Arg194Leu,ENST00000373141,NM_001287002.1,NM_001287001.1;ST6GALNAC6,missense_variant,p.Arg194Leu,ENST00000373144,NM_001287000.1;ST6GALNAC6,missense_variant,p.Arg228Leu,ENST00000291839,;ST6GALNAC6,missense_variant,p.Arg194Leu,ENST00000447681,;ST6GALNAC6,intron_variant,,ENST00000542456,;ST6GALNAC6,splice_region_variant,,ENST00000485320,;ST6GALNAC6,non_coding_transcript_exon_variant,,ENST00000480417,;ST6GALNAC6,intron_variant,,ENST00000463086,;RP11-203J24.9,upstream_gene_variant,,ENST00000476274,;ST6GALNAC6,downstream_gene_variant,,ENST00000494541,;ST6GALNAC6,downstream_gene_variant,,ENST00000481355,;ST6GALNAC6,downstream_gene_variant,,ENST00000478319,;							MODERATE	683/1002	R228L	SIA7F_HUMAN			Transcript		benign(0.026)	.	ENSP00000291839		CCDS6882.1			1	
HEMK1	0	LGGM	GRCh37	3	50617579	50617579	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000232854.4:c.899C>A	p.Pro300Gln	p.P300Q	ENST00000232854	NM_016173.3	300	cCg/cAg	0	1	1	UPI000012C594	0	NA	ENST00000232854		ENSG00000114735	24923		17	2.67		HGNC	p.P300Q		HEMK1		SNV							ENST00000232854	protein_coding	getma.org/?cm=var&var=hg19,3,50617579,C,A&fts=all		Gene3D:3.40.50.150,hmmpanther:PTHR18895,hmmpanther:PTHR18895:SF7,Superfamily_domains:SSF53335,TIGRFAM_domain:TIGR00536,TIGRFAM_domain:TIGR03534		P/Q		A	medium	1451/6087		getma.org/?cm=msa&ty=f&p=HEMK1_HUMAN&rb=143&re=300&var=P300Q	deleterious(0.01)				YES	HEMK1,missense_variant,p.Pro300Gln,ENST00000232854,NM_016173.3;HEMK1,missense_variant,p.Pro300Gln,ENST00000434410,;HEMK1,missense_variant,p.Pro300Gln,ENST00000455834,;HEMK1,missense_variant,p.Pro86Gln,ENST00000443894,;HEMK1,3_prime_UTR_variant,,ENST00000448997,;HEMK1,non_coding_transcript_exon_variant,,ENST00000482974,;HEMK1,downstream_gene_variant,,ENST00000424388,;							MODERATE	899/1017	P300Q	HEMK1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000232854		CCDS2830.1			1	
PNRC1	0	LGGM	GRCh37	6	89790649	89790649	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	3	.	.	ENST00000336032.3:c.36C>G	p.Leu12=	p.L12=	ENST00000336032	NM_006813.2	12	ctC/ctG	0	1	1	UPI0000052C62	0		ENST00000336032		ENSG00000146278	17278		14			HGNC	p.L12L		PNRC1		SNV							ENST00000336032	protein_coding					L		G		153/2065				Q49A59_HUMAN			YES	PNRC1,synonymous_variant,p.=,ENST00000336032,NM_006813.2;PNRC1,5_prime_UTR_variant,,ENST00000369472,;PNRC1,upstream_gene_variant,,ENST00000354922,;RP11-63L7.5,upstream_gene_variant,,ENST00000606729,;							LOW	36/984		PNRC1_HUMAN			Transcript			.	ENSP00000336931		CCDS5018.1			1	
DHX34	0	LGGM	GRCh37	19	47863253	47863253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	3	.	.	ENST00000328771.4:c.1301G>T	p.Arg434Leu	p.R434L	ENST00000328771	NM_014681.5	434	cGg/cTg	0	1	1	UPI0000202759	0	getma.org/pdb.php?prot=DHX34_HUMAN&from=404&to=496&var=R434L	ENST00000328771		ENSG00000134815	16719		32	4.38		HGNC	p.R434L		DHX34		SNV							ENST00000328771	protein_coding	getma.org/?cm=var&var=hg19,19,47863253,G,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF110,Pfam_domain:PF00271,Gene3D:3.40.50.300,SMART_domains:SM00490,Superfamily_domains:SSF52540		R/L		T	high	1650/4372		getma.org/?cm=msa&ty=f&p=DHX34_HUMAN&rb=404&re=496&var=R434L	deleterious(0)				YES	DHX34,missense_variant,p.Arg434Leu,ENST00000328771,NM_014681.5;DHX34,non_coding_transcript_exon_variant,,ENST00000471451,;							MODERATE	1301/3432	R434L	DHX34_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000331907		CCDS12700.1			1	
EIF3I	0	LGGM	GRCh37	1	32689694	32689694	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000373586.1:c.156C>A	p.Thr52=	p.T52=	ENST00000373586	NM_003757.2	52	acC/acA	0	1	1	UPI000012D2FB	0		ENST00000373586		ENSG00000084623	3272		16			HGNC	p.T52T		EIF3I		SNV							ENST00000373586	protein_coding			PROSITE_profiles:PS50294,HAMAP:MF_03008,PROSITE_profiles:PS50082,hmmpanther:PTHR19877,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		T		A		228/1458				Q9P1D9_HUMAN,Q5U0F4_HUMAN,Q5TFK1_HUMAN			YES	EIF3I,synonymous_variant,p.=,ENST00000373586,NM_003757.2;EIF3I,synonymous_variant,p.=,ENST00000355082,;TMEM234,upstream_gene_variant,,ENST00000373593,;TMEM234,upstream_gene_variant,,ENST00000309777,NM_019118.3;TMEM234,upstream_gene_variant,,ENST00000545122,;TMEM234,upstream_gene_variant,,ENST00000344461,;EIF3I,non_coding_transcript_exon_variant,,ENST00000471486,;EIF3I,non_coding_transcript_exon_variant,,ENST00000474371,;EIF3I,non_coding_transcript_exon_variant,,ENST00000489353,;EIF3I,intron_variant,,ENST00000483517,;TMEM234,upstream_gene_variant,,ENST00000466796,;TMEM234,upstream_gene_variant,,ENST00000461402,;TMEM234,upstream_gene_variant,,ENST00000491434,;TMEM234,upstream_gene_variant,,ENST00000489170,;TMEM234,upstream_gene_variant,,ENST00000487174,;TMEM234,upstream_gene_variant,,ENST00000483001,;TMEM234,upstream_gene_variant,,ENST00000484490,;							LOW	156/978		EIF3I_HUMAN			Transcript			.	ENSP00000362688		CCDS357.1			1	
SLC4A5	0	LGGM	GRCh37	2	74454981	74454981	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000377634.4:c.2872G>T	p.Gly958Ter	p.G958*	ENST00000377634		958	Gga/Tga	0	1		UPI000007386D	0	NA	ENST00000346834		ENSG00000188687	18168		7	0		HGNC	p.G958X		SLC4A5		SNV							ENST00000357822	protein_coding	getma.org/?cm=var&var=hg19,2,74454981,C,A&fts=all						A	NA	-/6104		NA		Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,stop_gained,p.Gly958Ter,ENST00000394019,NM_133478.2;SLC4A5,stop_gained,p.Gly856Ter,ENST00000359484,;SLC4A5,stop_gained,p.Gly958Ter,ENST00000377634,;SLC4A5,stop_gained,p.Gly958Ter,ENST00000357822,NM_021196.3;SLC4A5,stop_gained,p.Gly856Ter,ENST00000358683,;SLC4A5,missense_variant,p.Arg898Leu,ENST00000423644,;SLC4A5,missense_variant,p.Arg860Leu,ENST00000425249,;SLC4A5,intron_variant,,ENST00000346834,;SLC4A5,intron_variant,,ENST00000377632,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;SLC4A5,upstream_gene_variant,,ENST00000480696,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;							MODIFIER	-/3123	G958*	S4A5_HUMAN			Transcript			.	ENSP00000251768					1	
DCHS2	0	LGGM	GRCh37	4	155287581	155287581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	3	.	.	ENST00000357232.4:c.475G>T	p.Ala159Ser	p.A159S	ENST00000357232	NM_017639.3	159	Gcc/Tcc	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=56&to=177&var=A159S	ENST00000357232		ENSG00000197410	23111		14	-0.525		HGNC	p.A753S		DCHS2		SNV							ENST00000339452	protein_coding	getma.org/?cm=var&var=hg19,4,155287581,C,A&fts=all		PROSITE_profiles:PS50268,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/S		A	neutral	475/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=56&re=177&var=A159S	tolerated(0.09)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Ala159Ser,ENST00000357232,NM_017639.3;DCHS2,missense_variant,p.Ala753Ser,ENST00000339452,NM_001142552.1;							MODERATE	475/8751	A159S	PCD23_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000349768		CCDS3785.1			1	
CR2	0	LGGM	GRCh37	1	207651357	207651357	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	3	.	.	ENST00000367057.3:c.3030C>G	p.Pro1010=	p.P1010=	ENST00000367057	NM_001006658.2	1010	ccC/ccG	0	1		UPI000013D4F7	0		ENST00000367058		ENSG00000117322	2336		33			HGNC	p.P924P		CR2		SNV			1				ENST00000458541	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		P		G		3042/4063								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,;							LOW	2853/3102		CR2_HUMAN			Transcript			.	ENSP00000356025		CCDS1478.1			1	
NFATC4	0	LGGM	GRCh37	14	24839692	24839692	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	3	.	.	ENST00000413692.2:c.1277C>A	p.Ala426Asp	p.A426D	ENST00000413692	NM_001198967.1	426	gCt/gAt	0	1		UPI000013CCB1	0	NA	ENST00000250373		ENSG00000100968	7778		8	-0.975		HGNC	p.A351D		NFATC4		SNV							ENST00000556169	protein_coding	getma.org/?cm=var&var=hg19,14,24839692,C,A&fts=all		hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF9		A/D		A	neutral	1229/4749		getma.org/?cm=msa&ty=f&p=NFAC4_HUMAN&rb=201&re=400&var=A363D	tolerated(0.74)	G3V4K1_HUMAN				NFATC4,missense_variant,p.Ala426Asp,ENST00000413692,NM_001198967.1,NM_001136022.1;NFATC4,missense_variant,p.Ala395Asp,ENST00000539237,;NFATC4,missense_variant,p.Ala293Asp,ENST00000557451,;NFATC4,missense_variant,p.Ala351Asp,ENST00000422617,NM_001288802.1;NFATC4,missense_variant,p.Ala376Asp,ENST00000424781,;NFATC4,missense_variant,p.Ala363Asp,ENST00000553708,;NFATC4,missense_variant,p.Ala363Asp,ENST00000250373,NM_004554.4;NFATC4,missense_variant,p.Ala351Asp,ENST00000555453,;NFATC4,missense_variant,p.Ala363Asp,ENST00000554050,NM_001198965.1;NFATC4,missense_variant,p.Ala293Asp,ENST00000554344,;NFATC4,missense_variant,p.Ala395Asp,ENST00000556279,;NFATC4,missense_variant,p.Ala426Asp,ENST00000554591,;NFATC4,missense_variant,p.Ala376Asp,ENST00000555590,;NFATC4,missense_variant,p.Ala293Asp,ENST00000553879,NM_001198966.1;NFATC4,missense_variant,p.Ala293Asp,ENST00000554661,;NFATC4,missense_variant,p.Ala395Asp,ENST00000553469,;NFATC4,missense_variant,p.Ala351Asp,ENST00000556169,;NFATC4,missense_variant,p.Ala376Asp,ENST00000554966,;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,downstream_gene_variant,,ENST00000557674,;NFATC4,upstream_gene_variant,,ENST00000557767,;NFATC4,downstream_gene_variant,,ENST00000554903,;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,;							MODERATE	1088/2709	A363D	NFAC4_HUMAN			Transcript		benign(0.066)	.	ENSP00000250373		CCDS9629.1			1	
KCNMA1	0	LGGM	GRCh37	10	78832991	78832991	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000404857.1:c.1613C>A	p.Pro538Gln	p.P538Q	ENST00000404857	NM_001161353.1	538	cCg/cAg	0	1		UPI00003519E7	0	getma.org/pdb.php?prot=KCMA1_HUMAN&from=536&to=634&var=P538Q	ENST00000286628		ENSG00000156113	6284		21	2.455		HGNC	p.P475Q		KCNMA1		SNV			1				ENST00000372408	protein_coding	getma.org/?cm=var&var=hg19,10,78832991,G,T&fts=all		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF18,Gene3D:3.40.50.720,Pfam_domain:PF03493,Superfamily_domains:SSF51735		P/Q		T	medium	1613/6096		getma.org/?cm=msa&ty=f&p=KCMA1_HUMAN&rb=536&re=634&var=P538Q	deleterious(0)	Q5SVK3_HUMAN				KCNMA1,missense_variant,p.Pro399Gln,ENST00000604624,NM_001271518.1,NM_001014797.2;KCNMA1,missense_variant,p.Pro538Gln,ENST00000286627,NM_002247.3,NM_001271519.1;KCNMA1,missense_variant,p.Pro538Gln,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Pro538Gln,ENST00000372443,;KCNMA1,missense_variant,p.Pro538Gln,ENST00000372440,;KCNMA1,missense_variant,p.Pro538Gln,ENST00000404771,;KCNMA1,missense_variant,p.Pro512Gln,ENST00000457953,;KCNMA1,missense_variant,p.Pro473Gln,ENST00000372437,;KCNMA1,missense_variant,p.Pro512Gln,ENST00000372421,;KCNMA1,missense_variant,p.Pro538Gln,ENST00000406533,;KCNMA1,missense_variant,p.Pro538Gln,ENST00000354353,;KCNMA1,missense_variant,p.Pro538Gln,ENST00000404857,NM_001161353.1;KCNMA1,missense_variant,p.Pro475Gln,ENST00000372408,;KCNMA1,missense_variant,p.Pro489Gln,ENST00000372403,;KCNMA1,missense_variant,p.Pro217Gln,ENST00000434208,;KCNMA1,missense_variant,p.Pro31Gln,ENST00000450795,;KCNMA1,missense_variant,p.Pro22Gln,ENST00000428546,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000484507,;KCNMA1,non_coding_transcript_exon_variant,,ENST00000484343,;							MODERATE	1613/3711	P538Q	KCMA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286628		CCDS60569.1			1	
DNAH1	0	LGGM	GRCh37	3	52406269	52406269	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000420323.2:c.6693G>T	p.Thr2231=	p.T2231=	ENST00000420323	NM_015512.4	2231	acG/acT	0	1	1	UPI0001AE79D6	0		ENST00000420323		ENSG00000114841	2940		22			HGNC	p.T2231T		DNAH1		SNV			1				ENST00000420323	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF12775,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137,Superfamily_domains:SSF52540		T		T		6954/13104							YES	DNAH1,synonymous_variant,p.=,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;RP11-168J18.6,upstream_gene_variant,,ENST00000495716,;							LOW	6693/12798		DYH1_HUMAN			Transcript			.	ENSP00000401514		CCDS46842.1			1	
AGPAT3	0	LGGM	GRCh37	21	45390643	45390643	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000398063.2:c.620G>T	p.Arg207Leu	p.R207L	ENST00000398063	NM_001037553.1	207	cGg/cTg	0	1		UPI000004616E	0	NA	ENST00000291572		ENSG00000160216	326		17	3.55		HGNC	p.R207L		AGPAT3		SNV							ENST00000291572	protein_coding	getma.org/?cm=var&var=hg19,21,45390643,G,T&fts=all		hmmpanther:PTHR10983,hmmpanther:PTHR10983:SF9,Pfam_domain:PF01553,SMART_domains:SM00563		R/L		T	high	891/5546		getma.org/?cm=msa&ty=f&p=PLCC_HUMAN&rb=74&re=233&var=R207L	deleterious(0)	C9JQX8_HUMAN,C9JL26_HUMAN,C9JK35_HUMAN,C9J184_HUMAN				AGPAT3,missense_variant,p.Arg207Leu,ENST00000398063,NM_001037553.1;AGPAT3,missense_variant,p.Arg207Leu,ENST00000291572,NM_020132.4;AGPAT3,missense_variant,p.Arg207Leu,ENST00000398058,;AGPAT3,missense_variant,p.Arg207Leu,ENST00000398061,;AGPAT3,missense_variant,p.Arg207Leu,ENST00000327505,;AGPAT3,missense_variant,p.Arg207Leu,ENST00000546158,;AGPAT3,missense_variant,p.Arg207Leu,ENST00000422850,;AGPAT3,missense_variant,p.Arg207Leu,ENST00000457068,;AGPAT3,downstream_gene_variant,,ENST00000445582,;AGPAT3,downstream_gene_variant,,ENST00000448287,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000479117,;AGPAT3,downstream_gene_variant,,ENST00000481319,;AGPAT3,non_coding_transcript_exon_variant,,ENST00000467358,;AGPAT3,upstream_gene_variant,,ENST00000484865,;							MODERATE	620/1131	R207L	PLCC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000291572		CCDS13703.1			1	
PSME1	0	LGGM	GRCh37	14	24607737	24607737	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000382708.3:c.637C>A	p.Arg213=	p.R213=	ENST00000382708	NM_176783.2	213	Cgg/Agg	0	1		UPI0000132794	0		ENST00000206451		ENSG00000092010	9568		17			HGNC	p.R54R		PSME1		SNV							ENST00000559123	protein_coding			Superfamily_domains:SSF47216,Gene3D:1.20.120.180,Pfam_domain:PF02252,hmmpanther:PTHR10660:SF5,hmmpanther:PTHR10660		R		A		742/1006				H0YKK6_HUMAN				PSME1,synonymous_variant,p.=,ENST00000382708,NM_176783.2;PSME1,synonymous_variant,p.=,ENST00000559123,;PSME1,synonymous_variant,p.=,ENST00000206451,NM_001281529.1,NM_001281528.1,NM_006263.3;PSME1,synonymous_variant,p.=,ENST00000561435,;PSME2,downstream_gene_variant,,ENST00000216802,NM_002818.2;EMC9,downstream_gene_variant,,ENST00000419198,;EMC9,downstream_gene_variant,,ENST00000560403,;EMC9,downstream_gene_variant,,ENST00000216799,NM_016049.3;PSME2,downstream_gene_variant,,ENST00000560410,;RP11-468E2.5,upstream_gene_variant,,ENST00000558478,;EMC9,downstream_gene_variant,,ENST00000558200,;PSME2,downstream_gene_variant,,ENST00000471700,;PSME1,downstream_gene_variant,,ENST00000470718,;PSME1,3_prime_UTR_variant,,ENST00000558112,;PSME1,non_coding_transcript_exon_variant,,ENST00000560420,;PSME1,non_coding_transcript_exon_variant,,ENST00000561142,;PSME1,non_coding_transcript_exon_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000558931,;PSME2,downstream_gene_variant,,ENST00000559453,;PSME2,downstream_gene_variant,,ENST00000558273,;PSME1,downstream_gene_variant,,ENST00000561059,;EMC9,downstream_gene_variant,,ENST00000560600,;PSME2,downstream_gene_variant,,ENST00000559042,;EMC9,downstream_gene_variant,,ENST00000558045,;EMC9,downstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559005,;							LOW	637/750		PSME1_HUMAN			Transcript			.	ENSP00000206451		CCDS9612.1			1	
NDUFS7	0	LGGM	GRCh37	19	1390894	1390894	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000233627.9:c.253G>T	p.Gly85Cys	p.G85C	ENST00000233627	NM_024407.4	85	Ggc/Tgc	0	1	1	UPI000006ED2D	0	NA	ENST00000233627		ENSG00000115286	7714		9	3.62		HGNC	p.G115C		NDUFS7		SNV			1				ENST00000414651	protein_coding	getma.org/?cm=var&var=hg19,19,1390894,G,T&fts=all		HAMAP:MF_01356,hmmpanther:PTHR11995,hmmpanther:PTHR11995:SF2,TIGRFAM_domain:TIGR01957,Gene3D:1wuiS01,Superfamily_domains:SSF56770		G/C		T	high	549/1034		getma.org/?cm=msa&ty=f&p=NDUS7_HUMAN&rb=1&re=86&var=G85C	deleterious_low_confidence(0)	Q7LD69_HUMAN			YES	NDUFS7,missense_variant,p.Gly85Cys,ENST00000313408,;NDUFS7,missense_variant,p.Gly85Cys,ENST00000546283,;NDUFS7,missense_variant,p.Gly85Cys,ENST00000233627,NM_024407.4;NDUFS7,missense_variant,p.Gly85Cys,ENST00000539480,;NDUFS7,missense_variant,p.Gly115Cys,ENST00000414651,;AC005329.7,downstream_gene_variant,,ENST00000501448,;AC005329.7,downstream_gene_variant,,ENST00000589734,;AC005329.7,downstream_gene_variant,,ENST00000585596,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000540530,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000538929,;NDUFS7,3_prime_UTR_variant,,ENST00000534853,;NDUFS7,3_prime_UTR_variant,,ENST00000546172,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000543289,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000545446,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000535382,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000436115,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000538662,;NDUFS7,non_coding_transcript_exon_variant,,ENST00000538523,;NDUFS7,upstream_gene_variant,,ENST00000591358,;NDUFS7,downstream_gene_variant,,ENST00000539882,;							MODERATE	253/642	G85C	NDUS7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000233627		CCDS12063.1			1	
PPL	0	LGGM	GRCh37	16	4933643	4933643	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000345988.2:c.5013G>T	p.Pro1671=	p.P1671=	ENST00000345988	NM_002705.4	1671	ccG/ccT	0	1	1	UPI00001AE832	0		ENST00000345988		ENSG00000118898	9273		16			HGNC	p.P1092P		PPL		SNV							ENST00000592772	protein_coding			Pfam_domain:PF00681,hmmpanther:PTHR23169,SMART_domains:SM00250,Superfamily_domains:SSF75399		P		A		5103/6238							YES	PPL,synonymous_variant,p.=,ENST00000345988,NM_002705.4;PPL,synonymous_variant,p.=,ENST00000590782,;PPL,synonymous_variant,p.=,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;UBN1,downstream_gene_variant,,ENST00000590769,;UBN1,downstream_gene_variant,,ENST00000589191,;							LOW	5013/5271		PEPL_HUMAN			Transcript			.	ENSP00000340510		CCDS10526.1			1	
CSTF1	0	LGGM	GRCh37	20	54978675	54978675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000217109.4:c.1188C>A	p.His396Gln	p.H396Q	ENST00000217109	NM_001324.2	396	caC/caA	0	1	1	UPI0000000C1E	0	NA	ENST00000217109		ENSG00000101138	2483		24	3.78		HGNC	p.H396Q		CSTF1		SNV							ENST00000217109	protein_coding	getma.org/?cm=var&var=hg19,20,54978675,C,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22840,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		H/Q		A	high	1540/2383		getma.org/?cm=msa&ty=f&p=CSTF1_HUMAN&rb=392&re=425&var=H396Q	deleterious(0)	A3KFI9_HUMAN			YES	CSTF1,missense_variant,p.His396Gln,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,;							MODERATE	1188/1296	H396Q	CSTF1_HUMAN			Transcript		possibly_damaging(0.478)	.	ENSP00000217109		CCDS13452.1			1	
SMIM7	0	LGGM	GRCh37	19	16770791	16770791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000487416.2:c.47G>T	p.Gly16Val	p.G16V	ENST00000487416	NM_024104.3	16	gGg/gTg	0	1		UPI000004A094	0		ENST00000481671		ENSG00000214046	28419		11			HGNC	p.G16V		SMIM7		SNV							ENST00000600705	nonsense_mediated_decay			Transmembrane_helices:TMhelix		G/V		A		67/1126			tolerated(0.21)	M0R2G5_HUMAN,M0R0R3_HUMAN				SMIM7,missense_variant,p.Gly16Val,ENST00000487416,NM_024104.3;SMIM7,missense_variant,p.Gly16Val,ENST00000597711,;SMIM7,missense_variant,p.Gly16Val,ENST00000358726,;CTC-429P9.4,missense_variant,p.Gly14Val,ENST00000593459,;TMEM38A,upstream_gene_variant,,ENST00000187762,NM_024074.1;TMEM38A,upstream_gene_variant,,ENST00000599479,;SMIM7,non_coding_transcript_exon_variant,,ENST00000461364,;CTC-429P9.4,non_coding_transcript_exon_variant,,ENST00000593962,;SMIM7,non_coding_transcript_exon_variant,,ENST00000594507,;SMIM7,upstream_gene_variant,,ENST00000397349,;SMIM7,missense_variant,p.Gly16Val,ENST00000487803,;SMIM7,missense_variant,p.Gly16Val,ENST00000593409,;SMIM7,missense_variant,p.Gly16Val,ENST00000465250,;SMIM7,missense_variant,p.Gly16Val,ENST00000481671,;SMIM7,missense_variant,p.Gly16Val,ENST00000599310,;SMIM7,missense_variant,p.Gly4Val,ENST00000594662,;SMIM7,missense_variant,p.Gly16Val,ENST00000593404,;SMIM7,missense_variant,p.Gly16Val,ENST00000597781,;CTC-429P9.4,missense_variant,p.Gly16Val,ENST00000600705,;SMIM7,missense_variant,p.Gly16Val,ENST00000598278,;SMIM7,missense_variant,p.Gly16Val,ENST00000463051,;SMIM7,missense_variant,p.Gly4Val,ENST00000600740,;SMIM7,missense_variant,p.Gly16Val,ENST00000461488,;CTC-429P9.4,missense_variant,p.Gly14Val,ENST00000593991,;SMIM7,missense_variant,p.Gly16Val,ENST00000602194,;CTC-429P9.4,missense_variant,p.Gly14Val,ENST00000594509,;CTC-429P9.4,missense_variant,p.Gly4Val,ENST00000601636,;CTC-429P9.4,missense_variant,p.Gly16Val,ENST00000595505,;TMEM38A,upstream_gene_variant,,ENST00000595452,;							MODERATE	47/228		SMIM7_HUMAN			Transcript		possibly_damaging(0.585)	.	ENSP00000433833		CCDS12348.2			1	
NUPL2	0	LGGM	GRCh37	7	23221773	23221773	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000258742.5:c.69C>A	p.Pro23=	p.P23=	ENST00000258742	NM_007342.2	23	ccC/ccA	0	1	1	UPI0000072A3C	0		ENST00000258742		ENSG00000136243	17010		12			HGNC	p.P23P		NUPL2		SNV							ENST00000437140	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50103,hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF42,SMART_domains:SM00356		P		A		328/1795							YES	NUPL2,synonymous_variant,p.=,ENST00000258742,NM_007342.2;NUPL2,synonymous_variant,p.=,ENST00000413919,;NUPL2,synonymous_variant,p.=,ENST00000410002,;AC005082.1,intron_variant,,ENST00000366347,;KLHL7,downstream_gene_variant,,ENST00000339077,NM_001031710.2;NUPL2,non_coding_transcript_exon_variant,,ENST00000487595,;NUPL2,synonymous_variant,p.=,ENST00000438012,;NUPL2,synonymous_variant,p.=,ENST00000437140,;NUPL2,non_coding_transcript_exon_variant,,ENST00000485250,;NUPL2,non_coding_transcript_exon_variant,,ENST00000497500,;NUPL2,upstream_gene_variant,,ENST00000486136,;							LOW	69/1272		NUPL2_HUMAN			Transcript			.	ENSP00000258742		CCDS5379.1			1	
CLPP	0	LGGM	GRCh37	19	6366341	6366341	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000245816.4:c.628G>T	p.Ala210Ser	p.A210S	ENST00000245816	NM_006012.2	210	Gcc/Tcc	0	1	1	UPI0000000C4D	0	getma.org/pdb.php?prot=CLPP_HUMAN&from=67&to=248&var=A210S	ENST00000245816		ENSG00000125656	2084		11	0.945		HGNC	p.A210S		CLPP		SNV			1				ENST00000245816	protein_coding	getma.org/?cm=var&var=hg19,19,6366341,G,T&fts=all		Gene3D:3.90.226.10,HAMAP:MF_00444,Pfam_domain:PF00574,hmmpanther:PTHR10381,hmmpanther:PTHR10381:SF11,Superfamily_domains:SSF52096		A/S		T	low	751/1155		getma.org/?cm=msa&ty=f&p=CLPP_HUMAN&rb=67&re=248&var=A210S	tolerated(0.16)	M0R208_HUMAN,A4UCS4_HUMAN			YES	CLPP,missense_variant,p.Ala210Ser,ENST00000245816,NM_006012.2;CLPP,missense_variant,p.Ala123Ser,ENST00000596149,;CLPP,missense_variant,p.Ala147Ser,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,;							MODERATE	628/834	A210S	CLPP_HUMAN			Transcript		benign(0.114)	.	ENSP00000245816		CCDS12162.1			1	
ST6GALNAC4	0	LGGM	GRCh37	9	130674674	130674674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000335791.5:c.484G>T	p.Gly162Cys	p.G162C	ENST00000335791	NM_175039.3	162	Ggc/Tgc	0	1	1	UPI0000001658	0	getma.org/pdb.php?prot=SIA7D_HUMAN&from=53&to=296&var=G162C	ENST00000335791		ENSG00000136840	17846		18	1.845		HGNC	p.G78C		ST6GALNAC4		SNV							ENST00000361444	protein_coding	getma.org/?cm=var&var=hg19,9,130674674,C,A&fts=all		hmmpanther:PTHR13713:SF35,hmmpanther:PTHR13713,Pfam_domain:PF00777		G/C		A	low	760/1691		getma.org/?cm=msa&ty=f&p=SIA7D_HUMAN&rb=53&re=296&var=G162C		A8K7N4_HUMAN,A6NJX0_HUMAN			YES	ST6GALNAC4,missense_variant,p.Gly162Cys,ENST00000335791,NM_175039.3;ST6GALNAC4,missense_variant,p.Gly78Cys,ENST00000343609,NM_175040.3;ST6GALNAC4,missense_variant,p.Gly78Cys,ENST00000361444,;ST6GALNAC4,non_coding_transcript_exon_variant,,ENST00000495983,;ST6GALNAC4,non_coding_transcript_exon_variant,,ENST00000483438,;ST6GALNAC4,intron_variant,,ENST00000467674,;ST6GALNAC4,downstream_gene_variant,,ENST00000479747,;ST6GALNAC4,upstream_gene_variant,,ENST00000474282,;							MODERATE	484/909	G162C	SIA7D_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000336733		CCDS6883.1			1	
ZZEF1	0	LGGM	GRCh37	17	3936137	3936137	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000381638.2:c.6744G>T	p.Leu2248=	p.L2248=	ENST00000381638	NM_015113.3	2248	ctG/ctT	0	1	1	UPI00004569F7	0		ENST00000381638		ENSG00000074755	29027		12			HGNC	p.L2248L		ZZEF1		SNV							ENST00000381638	protein_coding			hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3		L		A		6869/11456							YES	ZZEF1,synonymous_variant,p.=,ENST00000381638,NM_015113.3;ZZEF1,synonymous_variant,p.=,ENST00000573183,;ZZEF1,3_prime_UTR_variant,,ENST00000571436,;ZZEF1,non_coding_transcript_exon_variant,,ENST00000573606,;ZZEF1,downstream_gene_variant,,ENST00000572426,;							LOW	6744/8886		ZZEF1_HUMAN			Transcript			.	ENSP00000371051		CCDS11043.1			1	
AOC3	0	LGGM	GRCh37	17	41008391	41008391	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000308423.2:c.2116C>A	p.Arg706=	p.R706=	ENST00000308423	NM_003734.3	706	Cga/Aga	0	1	1	UPI00000009FC	0		ENST00000308423		ENSG00000131471	550		24			HGNC	p.R706R		AOC3		SNV							ENST00000308423	protein_coding			Gene3D:2.70.98.20,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF23,Superfamily_domains:SSF49998		R		A		2276/4026				Q9UEU7_HUMAN,K7ESB3_HUMAN,K7EQZ5_HUMAN,K7EL47_HUMAN			YES	AOC3,synonymous_variant,p.=,ENST00000308423,NM_003734.3;AOC3,synonymous_variant,p.=,ENST00000591562,NM_001277732.1;AOC3,downstream_gene_variant,,ENST00000592999,;AOC3,downstream_gene_variant,,ENST00000588033,;AOC3,downstream_gene_variant,,ENST00000587330,;							LOW	2116/2292		AOC3_HUMAN			Transcript			.	ENSP00000312326		CCDS11444.1			1	
FZD9	0	LGGM	GRCh37	7	72849496	72849496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	3	.	.	ENST00000344575.3:c.1159C>A	p.Leu387Ile	p.L387I	ENST00000344575	NM_003508.2	387	Ctt/Att	0	1	1	UPI000004EC98	0	NA	ENST00000344575		ENSG00000188763	4047		15	0.985		HGNC	p.L387I		FZD9		SNV							ENST00000344575	protein_coding	getma.org/?cm=var&var=hg19,7,72849496,C,A&fts=all		Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79		L/I		A	low	1388/2342		getma.org/?cm=msa&ty=f&p=FZD9_HUMAN&rb=221&re=547&var=L387I	tolerated(0.12)				YES	FZD9,missense_variant,p.Leu387Ile,ENST00000344575,NM_003508.2;							MODERATE	1159/1776	L387I	FZD9_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000345785		CCDS5548.1			1	
ERF	0	LGGM	GRCh37	19	42752892	42752892	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000222329.4:c.1372C>A	p.Arg458Ser	p.R458S	ENST00000222329	NM_006494.2	458	Cgt/Agt	0	1	1	UPI000000106F	0	NA	ENST00000222329		ENSG00000105722	3444		16	-0.345		HGNC	p.R383S		ERF		SNV			1				ENST00000440177	protein_coding	getma.org/?cm=var&var=hg19,19,42752892,G,T&fts=all		Low_complexity_(Seg):seg		R/S		T	neutral	1530/2698		getma.org/?cm=msa&ty=f&p=ERF_HUMAN&rb=310&re=509&var=R458S	tolerated_low_confidence(0.31)	M0QXN0_HUMAN,B7Z6N1_HUMAN,B7Z4R0_HUMAN			YES	ERF,missense_variant,p.Arg458Ser,ENST00000222329,NM_006494.2;ERF,missense_variant,p.Arg383Ser,ENST00000440177,;AC006486.9,intron_variant,,ENST00000594664,;AC006486.1,downstream_gene_variant,,ENST00000378108,;ERF,downstream_gene_variant,,ENST00000593944,;ERF,downstream_gene_variant,,ENST00000598965,;ERF,downstream_gene_variant,,ENST00000595941,;ERF,downstream_gene_variant,,ENST00000596818,;ERF,downstream_gene_variant,,ENST00000595448,;							MODERATE	1372/1647	R458S	ERF_HUMAN			Transcript		benign(0.004)	.	ENSP00000222329		CCDS12600.1			1	
AEN	0	LGGM	GRCh37	15	89169800	89169800	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	3	.	.	ENST00000332810.3:c.360G>T	p.Thr120=	p.T120=	ENST00000332810	NM_022767.3	120	acG/acT	0	1	1	UPI000013DF23	0		ENST00000332810		ENSG00000181026	25722		27			HGNC	p.T120T		AEN		SNV							ENST00000379231	protein_coding			hmmpanther:PTHR12801,hmmpanther:PTHR12801:SF57,Pfam_domain:PF00929,Gene3D:3.30.420.10,SMART_domains:SM00479,Superfamily_domains:SSF53098		T		T		511/3117				Q8WYW8_HUMAN,H0YMJ6_HUMAN			YES	AEN,synonymous_variant,p.=,ENST00000332810,NM_022767.3;AEN,synonymous_variant,p.=,ENST00000379231,;AEN,synonymous_variant,p.=,ENST00000559528,;AEN,non_coding_transcript_exon_variant,,ENST00000557787,;AEN,non_coding_transcript_exon_variant,,ENST00000558327,;AEN,upstream_gene_variant,,ENST00000557927,;AEN,downstream_gene_variant,,ENST00000560174,;							LOW	360/978		AEN_HUMAN			Transcript			.	ENSP00000331944		CCDS10344.1			1	
IFI30	0	LGGM	GRCh37	19	18285864	18285864	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	3	.	.	ENST00000407280.3:c.147C>A	p.Tyr49Ter	p.Y49*	ENST00000407280	NM_006332.4	49	taC/taA	0	1	1	UPI0000072A2B	0	NA	ENST00000407280		ENSG00000216490	5398		28	0		HGNC	p.Y49X		IFI30		SNV							ENST00000407280	protein_coding	getma.org/?cm=var&var=hg19,19,18285864,C,A&fts=all		hmmpanther:PTHR13234,hmmpanther:PTHR13234:SF8		Y/*		A	NA	322/1134		NA		M0QZG3_HUMAN			YES	IFI30,stop_gained,p.Tyr49Ter,ENST00000407280,NM_006332.4;IFI30,stop_gained,p.Tyr49Ter,ENST00000597802,;PIK3R2,downstream_gene_variant,,ENST00000222254,NM_005027.3;PIK3R2,3_prime_UTR_variant,,ENST00000593731,;IFI30,non_coding_transcript_exon_variant,,ENST00000600463,;PIK3R2,downstream_gene_variant,,ENST00000426902,;							HIGH	147/753	Y49*	GILT_HUMAN			Transcript			.	ENSP00000384886		CCDS46015.1			1	
ZXDB	0	LGGM	GRCh37	X	57618799	57618799	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000374888.1:c.318C>A	p.Thr106=	p.T106=	ENST00000374888	NM_007157.3	106	acC/acA	0	1	1	UPI000013C495	0		ENST00000374888		ENSG00000198455	13199		7			HGNC	p.T106T	rs778428378	ZXDB		SNV							ENST00000374888	protein_coding			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72		T		A		531/5638							YES	ZXDB,synonymous_variant,p.=,ENST00000374888,NM_007157.3;	0.000535						LOW	318/2412		ZXDB_HUMAN			Transcript			common_variant	ENSP00000364023	2.61E-05	CCDS35313.1			1	
TUT1	0	LGGM	GRCh37	11	62343375	62343375	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	3	.	.	ENST00000308436.7:c.1930G>C	p.Ala644Pro	p.A644P	ENST00000308436	NM_022830.2	644	Gct/Cct	0	1		UPI000013DB68	0	NA	ENST00000476907		ENSG00000149016	26184		26	0.345		HGNC	p.A606P		TUT1		SNV							ENST00000476907	protein_coding	getma.org/?cm=var&var=hg19,11,62343375,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12271:SF11,hmmpanther:PTHR12271		A/P		G	neutral	2508/3363		getma.org/?cm=msa&ty=f&p=STPAP_HUMAN&rb=550&re=610&var=A606P	tolerated(0.09)	C9JBX0_HUMAN				TUT1,missense_variant,p.Ala606Pro,ENST00000476907,;TUT1,missense_variant,p.Ala644Pro,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,;							MODERATE	1816/2625	A606P	STPAP_HUMAN			Transcript		possibly_damaging(0.529)	.	ENSP00000419607					1	
RNF112	0	LGGM	GRCh37	17	19316037	19316037	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000461366.1:c.322C>A	p.Arg108=	p.R108=	ENST00000461366	NM_007148.4	108	Cgg/Agg	0	1	1	UPI00001B0607	0		ENST00000461366		ENSG00000128482	12968		11			HGNC	p.R108R		RNF112		SNV							ENST00000461366	protein_coding			hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751,Gene3D:3.30.40.10,Superfamily_domains:SSF57850		R		A		537/3212				J3QRB8_HUMAN			YES	RNF112,synonymous_variant,p.=,ENST00000461366,NM_007148.4;RNF112,synonymous_variant,p.=,ENST00000575165,;CTB-187M2.2,non_coding_transcript_exon_variant,,ENST00000579897,;RNF112,non_coding_transcript_exon_variant,,ENST00000580109,;RNF112,non_coding_transcript_exon_variant,,ENST00000574149,;RNF112,upstream_gene_variant,,ENST00000574782,;							LOW	322/1896		RN112_HUMAN			Transcript			.	ENSP00000454919		CCDS58529.1			1	
MANBAL	0	LGGM	GRCh37	20	35929734	35929734	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000373605.3:c.68G>T	p.Arg23Leu	p.R23L	ENST00000373605		23	cGg/cTg	0	1	1	UPI0000049DB4	0		ENST00000373605		ENSG00000101363	15799		24			HGNC	p.R23L		MANBAL		SNV							ENST00000397152	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR14409,Pfam_domain:PF06783		R/L		T		880/1915			deleterious(0.01)				YES	MANBAL,missense_variant,p.Arg23Leu,ENST00000373605,;MANBAL,missense_variant,p.Arg23Leu,ENST00000397152,;MANBAL,missense_variant,p.Arg23Leu,ENST00000397151,;MANBAL,missense_variant,p.Arg23Leu,ENST00000397156,NM_022077.3;MANBAL,missense_variant,p.Arg23Leu,ENST00000373606,NM_001003897.1;MANBAL,missense_variant,p.Arg23Leu,ENST00000397150,;							MODERATE	68/258		MANBL_HUMAN			Transcript		benign(0.41)	.	ENSP00000362707		CCDS13293.1			1	
COX7A1	0	LGGM	GRCh37	19	36642432	36642432	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000292907.3:c.119C>A	p.Pro40Gln	p.P40Q	ENST00000292907	NM_001864.2	40	cCg/cAg	0	1	1	UPI0000048D61	0		ENST00000292907		ENSG00000161281	2287	8.64E-05	22			HGNC	p.P40Q	rs777804547	COX7A1		SNV							ENST00000292907	protein_coding			Superfamily_domains:0041785,Gene3D:1v54J00,Pfam_domain:PF02238,hmmpanther:PTHR10510,hmmpanther:PTHR10510:SF5		P/Q		T		581/762	1.50E-05		deleterious(0)	U3KQH8_HUMAN,Q6FGI7_HUMAN,H6SG12_HUMAN			YES	COX7A1,missense_variant,p.Pro40Gln,ENST00000292907,NM_001864.2;COX7A1,missense_variant,p.Pro31Gln,ENST00000589154,;COX7A1,5_prime_UTR_variant,,ENST00000437291,;CAPNS1,downstream_gene_variant,,ENST00000246533,NM_001749.2,NM_001003962.1;CAPNS1,downstream_gene_variant,,ENST00000587718,;CAPNS1,downstream_gene_variant,,ENST00000588815,;CAPNS1,downstream_gene_variant,,ENST00000588780,;CAPNS1,downstream_gene_variant,,ENST00000590874,;CAPNS1,downstream_gene_variant,,ENST00000586851,;CAPNS1,downstream_gene_variant,,ENST00000589146,;CAPNS1,downstream_gene_variant,,ENST00000590211,;AD001527.7,upstream_gene_variant,,ENST00000604228,;COX7A1,non_coding_transcript_exon_variant,,ENST00000481297,;CAPNS1,downstream_gene_variant,,ENST00000589162,;CAPNS1,downstream_gene_variant,,ENST00000590049,;							MODERATE	119/240		CX7A1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000292907	1.65E-05	CCDS12490.1			1	
ANO7	0	LGGM	GRCh37	2	242141686	242141686	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	3	.	.	ENST00000274979.8:c.852G>C	p.Glu284Asp	p.E284D	ENST00000274979	NM_001001891.3	284	gaG/gaC	0	1	1	UPI0000D612DB	0	NA	ENST00000274979		ENSG00000146205	31677		20	0.675		HGNC	p.E283D		ANO7		SNV							ENST00000402430	protein_coding	getma.org/?cm=var&var=hg19,2,242141686,G,C&fts=all		hmmpanther:PTHR12308:SF22,hmmpanther:PTHR12308		E/D		C	neutral	955/4128		getma.org/?cm=msa&ty=f&p=ANO7_HUMAN&rb=201&re=334&var=E284D	tolerated(0.07)				YES	ANO7,missense_variant,p.Glu284Asp,ENST00000274979,NM_001001891.3;ANO7,missense_variant,p.Glu283Asp,ENST00000402430,;ANO7,downstream_gene_variant,,ENST00000475532,;							MODERATE	852/2802	E284D	ANO7_HUMAN			Transcript		benign(0.109)	.	ENSP00000274979		CCDS33423.1			1	
RMND5B	0	LGGM	GRCh37	5	177573203	177573203	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000515098.1:c.783G>T	p.Trp261Cys	p.W261C	ENST00000515098	NM_001288794.1	261	tgG/tgT	0	1		UPI0000037C23	0	NA	ENST00000313386		ENSG00000145916	26181		9	3.43		HGNC	p.W248C		RMND5B		SNV							ENST00000542098	protein_coding	getma.org/?cm=var&var=hg19,5,177573203,G,T&fts=all		Pfam_domain:PF10607,hmmpanther:PTHR12170,hmmpanther:PTHR12170:SF6,SMART_domains:SM00757		W/C		T	medium	994/1929		getma.org/?cm=msa&ty=f&p=RMD5B_HUMAN&rb=155&re=299&var=W261C	deleterious(0)	Q659D3_HUMAN,D6RIF9_HUMAN,D6RFK1_HUMAN,D6RER3_HUMAN				RMND5B,missense_variant,p.Trp261Cys,ENST00000515098,NM_001288794.1;RMND5B,missense_variant,p.Trp261Cys,ENST00000313386,NM_022762.3;RMND5B,missense_variant,p.Trp248Cys,ENST00000542098,NM_001288795.1;NHP2,downstream_gene_variant,,ENST00000274606,NM_017838.3;RMND5B,downstream_gene_variant,,ENST00000507457,;RMND5B,downstream_gene_variant,,ENST00000502814,;NHP2,downstream_gene_variant,,ENST00000314397,NM_001034833.1;RMND5B,downstream_gene_variant,,ENST00000508647,;NHP2,downstream_gene_variant,,ENST00000502263,;NHP2,downstream_gene_variant,,ENST00000511078,;NHP2,downstream_gene_variant,,ENST00000514354,;RMND5B,non_coding_transcript_exon_variant,,ENST00000513162,;RMND5B,non_coding_transcript_exon_variant,,ENST00000515360,;RMND5B,non_coding_transcript_exon_variant,,ENST00000507937,;RMND5B,non_coding_transcript_exon_variant,,ENST00000507575,;RMND5B,downstream_gene_variant,,ENST00000512663,;RMND5B,downstream_gene_variant,,ENST00000512811,;							MODERATE	783/1182	W261C	RMD5B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000320623		CCDS4431.1			1	
CCAR2	0	LGGM	GRCh37	8	22473539	22473539	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	3	.	.	ENST00000308511.4:c.1623C>A	p.Ala541=	p.A541=	ENST00000308511		541	gcC/gcA	0	1	1	UPI0000070A46	0		ENST00000308511		ENSG00000158941	23360		29			HGNC	p.A216A	rs747890171	CCAR2	6.06E-05	SNV							ENST00000520861	protein_coding			hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF12		A		A		1872/4853				E5RGU7_HUMAN,E5RFJ3_HUMAN,E2PSM9_HUMAN			YES	CCAR2,synonymous_variant,p.=,ENST00000308511,;CCAR2,synonymous_variant,p.=,ENST00000389279,NM_021174.5;CCAR2,synonymous_variant,p.=,ENST00000520861,;CCAR2,synonymous_variant,p.=,ENST00000520738,;BIN3,downstream_gene_variant,,ENST00000276416,NM_018688.4;BIN3,downstream_gene_variant,,ENST00000519513,;BIN3,downstream_gene_variant,,ENST00000399977,;CCAR2,downstream_gene_variant,,ENST00000522599,;RP11-582J16.5,non_coding_transcript_exon_variant,,ENST00000521025,;BIN3,downstream_gene_variant,,ENST00000520489,;CCAR2,upstream_gene_variant,,ENST00000520536,;CCAR2,upstream_gene_variant,,ENST00000521436,;CCAR2,downstream_gene_variant,,ENST00000521020,;							LOW	1623/2772		CCAR2_HUMAN			Transcript			.	ENSP00000310670	8.24E-06	CCDS34863.1			1	
SOGA1	0	LGGM	GRCh37	20	35421687	35421687	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000237536.4:c.4798C>A	p.Arg1600=	p.R1600=	ENST00000237536	NM_080627.2	1600	Cgg/Agg	0	1	1	UPI0000E5A319	0		ENST00000237536		ENSG00000149639	16111		12			HGNC	p.R1362R		SOGA1		SNV							ENST00000357779	protein_coding			hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF1		R		T		5140/14371				I3L0I1_HUMAN,F2FB34_HUMAN			YES	SOGA1,synonymous_variant,p.=,ENST00000237536,NM_080627.2;SOGA1,synonymous_variant,p.=,ENST00000357779,;SOGA1,synonymous_variant,p.=,ENST00000456801,;SOGA1,intron_variant,,ENST00000279034,NM_199181.2;SOGA1,synonymous_variant,p.=,ENST00000465671,;							LOW	4798/4986		SOGA1_HUMAN			Transcript			.	ENSP00000237536		CCDS54459.1			1	
LETM1	0	LGGM	GRCh37	4	1843336	1843336	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000302787.2:c.332C>A	p.Ser111Ter	p.S111*	ENST00000302787	NM_012318.2	111	tCg/tAg	0	1	1	UPI0000073989	0	NA	ENST00000302787		ENSG00000168924	6556		17	0		HGNC	p.S111X		LETM1		SNV			1				ENST00000302787	protein_coding	getma.org/?cm=var&var=hg19,4,1843336,G,T&fts=all		hmmpanther:PTHR14009,hmmpanther:PTHR14009:SF8		S/*		T	NA	629/5462		NA		D3DVQ1_HUMAN			YES	LETM1,stop_gained,p.Ser111Ter,ENST00000302787,NM_012318.2;LETM1,downstream_gene_variant,,ENST00000512189,;LETM1,non_coding_transcript_exon_variant,,ENST00000505551,;LETM1,non_coding_transcript_exon_variant,,ENST00000466175,;LETM1,upstream_gene_variant,,ENST00000512669,;							HIGH	332/2220	S111*	LETM1_HUMAN			Transcript			.	ENSP00000305653		CCDS3355.1			1	
TMEM39B	0	LGGM	GRCh37	1	32557303	32557303	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	3	.	.	ENST00000336294.5:c.618G>T	p.Gln206His	p.Q206H	ENST00000336294	NM_018056.2	206	caG/caT	0	1	1	UPI0000037B9F	0	NA	ENST00000336294		ENSG00000121775	25510		11	1.06		HGNC	p.Q7H		TMEM39B		SNV							ENST00000373634	protein_coding	getma.org/?cm=var&var=hg19,1,32557303,G,T&fts=all		Pfam_domain:PF10271,hmmpanther:PTHR12995,hmmpanther:PTHR12995:SF2,Transmembrane_helices:TMhelix		Q/H		T	low	764/1813		getma.org/?cm=msa&ty=f&p=TM39B_HUMAN&rb=46&re=479&var=Q206H	tolerated(0.55)	Q9NW51_HUMAN,Q9BT39_HUMAN,B4DQE6_HUMAN			YES	TMEM39B,missense_variant,p.Gln91His,ENST00000427288,;TMEM39B,missense_variant,p.Gln206His,ENST00000336294,NM_018056.2;TMEM39B,missense_variant,p.Gln7His,ENST00000373634,;TMEM39B,missense_variant,p.Ala155Ser,ENST00000456834,;TMEM39B,missense_variant,p.Gln178His,ENST00000438825,;MIR5585,downstream_gene_variant,,ENST00000577515,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000487305,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000476968,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000468135,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000472503,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000498613,;TMEM39B,non_coding_transcript_exon_variant,,ENST00000466321,;TMEM39B,missense_variant,p.Ala127Ser,ENST00000441402,;							MODERATE	618/1479	Q206H	TM39B_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000338165		CCDS351.2			1	
EIF2B5	0	LGGM	GRCh37	3	183855762	183855762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000273783.3:c.583C>A	p.Arg195Ser	p.R195S	ENST00000273783	NM_003907.2	195	Cgt/Agt	0	1	1	UPI000013D9CF	0	NA	ENST00000273783		ENSG00000145191	3261		22	2.965		HGNC	p.R195S		EIF2B5		SNV			1				ENST00000444495	protein_coding	getma.org/?cm=var&var=hg19,3,183855762,C,A&fts=all		hmmpanther:PTHR22572,hmmpanther:PTHR22572:SF7,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		R/S		A	medium	705/2655		getma.org/?cm=msa&ty=f&p=EI2BE_HUMAN&rb=1&re=200&var=R195S	deleterious(0)	C9JRD9_HUMAN			YES	EIF2B5,missense_variant,p.Arg195Ser,ENST00000273783,NM_003907.2;EIF2B5,missense_variant,p.Arg195Ser,ENST00000444495,;EIF2B5,downstream_gene_variant,,ENST00000432569,;RP11-778D9.13,upstream_gene_variant,,ENST00000609288,;RP11-778D9.12,upstream_gene_variant,,ENST00000608135,;RP11-778D9.12,upstream_gene_variant,,ENST00000608232,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000498831,;EIF2B5,upstream_gene_variant,,ENST00000492773,;EIF2B5,downstream_gene_variant,,ENST00000471832,;EIF2B5,upstream_gene_variant,,ENST00000479833,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000481054,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491144,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491008,;EIF2B5,non_coding_transcript_exon_variant,,ENST00000468748,;EIF2B5,intron_variant,,ENST00000432982,;EIF2B5,upstream_gene_variant,,ENST00000465218,;EIF2B5,upstream_gene_variant,,ENST00000493740,;EIF2B5,upstream_gene_variant,,ENST00000479250,;EIF2B5,upstream_gene_variant,,ENST00000484154,;							MODERATE	583/2166	R195S	EI2BE_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000273783		CCDS3252.1			1	
DOCK2	0	LGGM	GRCh37	5	169508901	169508901	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	3	.	.	ENST00000256935.8:c.5343C>G	p.Pro1781=	p.P1781=	ENST00000256935	NM_004946.2	1781	ccC/ccG	0	1	1	UPI00001A38CC	0		ENST00000256935		ENSG00000134516	2988		28			HGNC	p.P1781P		DOCK2		SNV							ENST00000256935	protein_coding					P		G		5423/6097				Q5XG91_HUMAN,B3KXW9_HUMAN			YES	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,;							LOW	5343/5493		DOCK2_HUMAN			Transcript			.	ENSP00000256935		CCDS4371.1			1	
NMNAT3	0	LGGM	GRCh37	3	139280062	139280062	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000406164.1:c.438G>C	p.Arg146=	p.R146=	ENST00000406164		146	cgG/cgC	0	1		UPI00001404FA	0		ENST00000296202		ENSG00000163864	20989		22			HGNC	p.R146R		NMNAT3		SNV							ENST00000339837	protein_coding			hmmpanther:PTHR12039:SF1,hmmpanther:PTHR12039,Gene3D:3.40.50.620,Pfam_domain:PF01467,TIGRFAM_domain:TIGR00482,Superfamily_domains:SSF52374		R		G		931/1569				Q49AL4_HUMAN,D6RHV4_HUMAN,D6R975_HUMAN				NMNAT3,synonymous_variant,p.=,ENST00000406824,;NMNAT3,synonymous_variant,p.=,ENST00000406164,;NMNAT3,synonymous_variant,p.=,ENST00000339837,NM_178177.3;NMNAT3,synonymous_variant,p.=,ENST00000413939,NM_001200047.1;NMNAT3,synonymous_variant,p.=,ENST00000296202,;NMNAT3,3_prime_UTR_variant,,ENST00000511444,;NMNAT3,downstream_gene_variant,,ENST00000512391,;RP11-319G6.1,intron_variant,,ENST00000515247,;RP11-319G6.1,intron_variant,,ENST00000381790,;NMNAT3,non_coding_transcript_exon_variant,,ENST00000507242,;NMNAT3,non_coding_transcript_exon_variant,,ENST00000509447,;NMNAT3,3_prime_UTR_variant,,ENST00000506254,;							LOW	549/759		NMNA3_HUMAN			Transcript			.	ENSP00000296202					1	
CRTC1	0	LGGM	GRCh37	19	18886625	18886625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	3	.	.	ENST00000338797.6:c.1735C>A	p.Leu579Ile	p.L579I	ENST00000338797	NM_001098482.1	579	Ctc/Atc	0	1		UPI0000140CBC	0	NA	ENST00000321949		ENSG00000105662	16062		7	1.905		HGNC	p.L321I		CRTC1		SNV							ENST00000601916	protein_coding	getma.org/?cm=var&var=hg19,19,18886625,C,A&fts=all		hmmpanther:PTHR13589:SF14,hmmpanther:PTHR13589,Pfam_domain:PF12886		L/I		A	medium	1713/2501		getma.org/?cm=msa&ty=f&p=CRTC1_HUMAN&rb=559&re=634&var=L563I	deleterious(0.03)					CRTC1,missense_variant,p.Leu579Ile,ENST00000338797,NM_001098482.1;CRTC1,missense_variant,p.Leu563Ile,ENST00000321949,NM_015321.2;CRTC1,missense_variant,p.Leu522Ile,ENST00000594658,;CRTC1,missense_variant,p.Leu321Ile,ENST00000601916,;							MODERATE	1687/1905	L563I	CRTC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323332		CCDS32963.1			1	
SAMD10	0	LGGM	GRCh37	20	62608735	62608735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	3	.	.	ENST00000369886.3:c.116G>T	p.Arg39Leu	p.R39L	ENST00000369886	NM_080621.4	39	cGg/cTg	0	1	1	UPI000012860F	0	NA	ENST00000369886		ENSG00000130590	16129		6	1.04		HGNC	p.R39L		SAMD10		SNV							ENST00000369886	protein_coding	getma.org/?cm=var&var=hg19,20,62608735,C,A&fts=all		hmmpanther:PTHR20843,hmmpanther:PTHR20843:SF1		R/L		A	low	291/2181		getma.org/?cm=msa&ty=f&p=SAM10_HUMAN&rb=1&re=114&var=R39L	deleterious(0.01)				YES	SAMD10,missense_variant,p.Arg39Leu,ENST00000369886,NM_080621.4;SAMD10,missense_variant,p.Arg78Leu,ENST00000450107,;ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,intron_variant,,ENST00000217130,;PRPF6,upstream_gene_variant,,ENST00000266079,NM_012469.3;PRPF6,upstream_gene_variant,,ENST00000535781,;SAMD10,non_coding_transcript_exon_variant,,ENST00000498830,;SAMD10,non_coding_transcript_exon_variant,,ENST00000478694,;							MODERATE	116/609	R39L	SAM10_HUMAN			Transcript		benign(0.106)	.	ENSP00000358902		CCDS13549.1			1	
ALOX15B	0	LGGM	GRCh37	17	7950030	7950030	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	3	.	.	ENST00000380183.4:c.1245C>A	p.Leu415=	p.L415=	ENST00000380183	NM_001141.2	415	ctC/ctA	0	1	1	UPI0000140991	0		ENST00000380183		ENSG00000179593	434		14			HGNC	p.L415L		ALOX15B		SNV							ENST00000380183	protein_coding			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF46,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484		L		A		1384/2739							YES	ALOX15B,synonymous_variant,p.=,ENST00000380183,NM_001141.2;ALOX15B,synonymous_variant,p.=,ENST00000572022,;ALOX15B,intron_variant,,ENST00000380173,NM_001039131.1,NM_001039130.1;ALOX15B,intron_variant,,ENST00000573359,;ALOX15B,non_coding_transcript_exon_variant,,ENST00000571240,;							LOW	1245/2031		LX15B_HUMAN			Transcript			.	ENSP00000369530		CCDS11128.1			1	
MED24	0	LGGM	GRCh37	17	38191987	38191987	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	3	.	.	ENST00000394128.2:c.314G>T	p.Cys105Phe	p.C105F	ENST00000394128	NM_014815.3	105	tGt/tTt	0	1	1	UPI000013677A	0	NA	ENST00000394128		ENSG00000008838	22963		26	1.39		HGNC	p.C105F		MED24		SNV							ENST00000585306	protein_coding	getma.org/?cm=var&var=hg19,17,38191987,C,A&fts=all		hmmpanther:PTHR12898,hmmpanther:PTHR12898:SF1,Pfam_domain:PF11277		C/F		A	low	396/3479		getma.org/?cm=msa&ty=f&p=MED24_HUMAN&rb=1&re=987&var=C105F	tolerated(0.14)	J3QRH9_HUMAN,J3KSU0_HUMAN,F5H5K2_HUMAN			YES	MED24,missense_variant,p.Cys130Phe,ENST00000394126,;MED24,missense_variant,p.Cys105Phe,ENST00000394128,NM_014815.3;MED24,missense_variant,p.Cys92Phe,ENST00000394127,NM_001079518.1;MED24,missense_variant,p.Cys92Phe,ENST00000356271,NM_001267797.1;MED24,missense_variant,p.Cys105Phe,ENST00000501516,;MED24,missense_variant,p.Cys55Phe,ENST00000535071,;MED24,missense_variant,p.Cys34Phe,ENST00000580885,;MED24,missense_variant,p.Cys117Phe,ENST00000428757,;MED24,missense_variant,p.Cys117Phe,ENST00000543759,;MED24,missense_variant,p.Cys105Phe,ENST00000585306,;MED24,missense_variant,p.Cys151Phe,ENST00000582023,;MED24,missense_variant,p.Cys130Phe,ENST00000578161,;MED24,missense_variant,p.Cys117Phe,ENST00000580517,;MED24,missense_variant,p.Cys130Phe,ENST00000537674,;MED24,non_coding_transcript_exon_variant,,ENST00000479829,;MED24,missense_variant,p.Cys26Phe,ENST00000580008,;MED24,intron_variant,,ENST00000535508,;MED24,intron_variant,,ENST00000578901,;MED24,downstream_gene_variant,,ENST00000581054,;MED24,upstream_gene_variant,,ENST00000577488,;MED24,upstream_gene_variant,,ENST00000584077,;MED24,upstream_gene_variant,,ENST00000585249,;							MODERATE	314/2970	C105F	MED24_HUMAN			Transcript		benign(0.269)	.	ENSP00000377686		CCDS11359.1			1	
KCNJ10	0	LGGM	GRCh37	1	160011645	160011645	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	3	.	.	ENST00000368089.3:c.678G>C	p.Gly226=	p.G226=	ENST00000368089	NM_002241.4	226	ggG/ggC	0	1	1	UPI000012D8A6	0		ENST00000368089		ENSG00000177807	6256		31			HGNC	p.G226G		KCNJ10		SNV			1				ENST00000368089	protein_coding			Gene3D:2.60.40.1400,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF21,Superfamily_domains:SSF81296		G		G		905/5293				Q9BXC5_HUMAN			YES	KCNJ10,synonymous_variant,p.=,ENST00000368089,NM_002241.4;KCNJ10,non_coding_transcript_exon_variant,,ENST00000509700,;							LOW	678/1140		IRK10_HUMAN			Transcript			.	ENSP00000357068		CCDS1193.1			1	
WDR48	0	LGGM	GRCh37	3	39118693	39118693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	3	.	.	ENST00000302313.5:c.961G>T	p.Val321Leu	p.V321L	ENST00000302313	NM_020839.2	321	Gta/Tta	0	1	1	UPI000006FF8C	0	NA	ENST00000302313		ENSG00000114742	30914		40	1.285		HGNC	p.V239L		WDR48		SNV			1				ENST00000396258	protein_coding	getma.org/?cm=var&var=hg19,3,39118693,G,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR19862,Superfamily_domains:SSF50978		V/L		T	low	989/3707		getma.org/?cm=msa&ty=f&p=WDR48_HUMAN&rb=281&re=365&var=V321L	tolerated(0.2)	F8W7Y5_HUMAN,C9JC24_HUMAN			YES	WDR48,missense_variant,p.Val321Leu,ENST00000302313,NM_020839.2;WDR48,missense_variant,p.Val239Leu,ENST00000396258,;WDR48,missense_variant,p.Val113Leu,ENST00000544962,;WDR48,5_prime_UTR_variant,,ENST00000418020,;WDR48,downstream_gene_variant,,ENST00000441361,;WDR48,upstream_gene_variant,,ENST00000463198,;WDR48,upstream_gene_variant,,ENST00000489838,;WDR48,3_prime_UTR_variant,,ENST00000420940,;WDR48,3_prime_UTR_variant,,ENST00000413099,;							MODERATE	961/2034	V321L	WDR48_HUMAN			Transcript		benign(0.016)	.	ENSP00000307491		CCDS33738.1			1	
KIAA1279	0	LGGM	GRCh37	10	70748777	70748777	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000361983.4:c.189C>A	p.Ala63=	p.A63=	ENST00000361983	NM_015634.3	63	gcC/gcA	0	1	1	UPI000006FCAF	0		ENST00000361983		ENSG00000198954	23419		17			HGNC	p.A63A		KIAA1279		SNV			1				ENST00000361983	protein_coding			hmmpanther:PTHR20956,hmmpanther:PTHR20956:SF0,Low_complexity_(Seg):seg		A		A		291/2534							YES	KIAA1279,synonymous_variant,p.=,ENST00000361983,NM_015634.3;DDX21,downstream_gene_variant,,ENST00000354185,NM_001256910.1,NM_004728.3;MED28P1,upstream_gene_variant,,ENST00000399158,;							LOW	189/1866		KBP_HUMAN			Transcript			.	ENSP00000354848		CCDS7284.1			1	
PLXNA2	0	LGGM	GRCh37	1	208215602	208215602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	3	.	.	ENST00000367033.3:c.4127G>T	p.Arg1376Leu	p.R1376L	ENST00000367033	NM_025179.3	1376	cGc/cTc	0	1	1	UPI000022B239	0	getma.org/pdb.php?prot=PLXA2_HUMAN&from=1310&to=1864&var=R1376L	ENST00000367033		ENSG00000076356	9100		17	2.565		HGNC	p.R1376L		PLXNA2		SNV							ENST00000367033	protein_coding	getma.org/?cm=var&var=hg19,1,208215602,C,A&fts=all		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350		R/L		A	medium	4885/11444		getma.org/?cm=msa&ty=f&p=PLXA2_HUMAN&rb=1310&re=1864&var=R1376L	deleterious(0)				YES	PLXNA2,missense_variant,p.Arg1376Leu,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000463510,;							MODERATE	4127/5685	R1376L	PLXA2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000356000		CCDS31013.1			1	
ZAN	0	LGGM	GRCh37	7	100370986	100370986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	3	.	.	ENST00000546292.1:c.5504C>A	p.Pro1835Gln	p.P1835Q	ENST00000546292	NM_173059.1	1835	cCg/cAg	0	1	1	UPI00004575C6	0	NA	ENST00000546292		ENSG00000146839	12857		29	2.695		HGNC	p.P1835Q		ZAN		SNV							ENST00000546292	protein_coding	getma.org/?cm=var&var=hg19,7,100370986,C,A&fts=all		Superfamily_domains:SSF57567,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339		P/Q		A	medium	5652/8375		getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=1812&re=1867&var=P1835Q		F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Pro1835Gln,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Pro1835Gln,ENST00000538115,;ZAN,missense_variant,p.Pro1835Gln,ENST00000546292,NM_173059.1;ZAN,splice_region_variant,,ENST00000546213,;ZAN,missense_variant,p.Pro1835Gln,ENST00000427578,;ZAN,missense_variant,p.Pro1835Gln,ENST00000449052,;ZAN,missense_variant,p.Pro1835Gln,ENST00000349350,;ZAN,missense_variant,p.Pro1835Gln,ENST00000443370,;ZAN,missense_variant,p.Pro1835Gln,ENST00000421100,;ZAN,missense_variant,p.Pro1835Gln,ENST00000348028,;							MODERATE	5504/8163	P1835Q				Transcript		unknown(0)	.	ENSP00000445943					1	
ACD	0	LGGM	GRCh37	16	67693820	67693820	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000393919.4:c.486G>T	p.Leu162=	p.L162=	ENST00000393919		162	ctG/ctT	0	1	1	UPI0000246BB2	0		ENST00000393919		ENSG00000102977	25070		9			HGNC	p.L159L		ACD		SNV			1				ENST00000219251	protein_coding			Pfam_domain:PF10341,hmmpanther:PTHR14487:SF2,hmmpanther:PTHR14487		L		A		751/1974							YES	ACD,stop_gained,p.Gly12Ter,ENST00000602850,;ACD,synonymous_variant,p.=,ENST00000219251,NM_001082487.1,NM_022914.2,NM_001082486.1;ACD,synonymous_variant,p.=,ENST00000393919,;ACD,synonymous_variant,p.=,ENST00000602320,;RLTPR,downstream_gene_variant,,ENST00000334583,NM_001013838.1;RLTPR,downstream_gene_variant,,ENST00000545661,;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.1;ENKD1,downstream_gene_variant,,ENST00000602644,;PARD6A,upstream_gene_variant,,ENST00000458121,NM_001037281.1,NM_016948.2;PARD6A,upstream_gene_variant,,ENST00000219255,;PARD6A,upstream_gene_variant,,ENST00000602551,;ACD,upstream_gene_variant,,ENST00000602382,;ENKD1,downstream_gene_variant,,ENST00000602409,;ACD,non_coding_transcript_exon_variant,,ENST00000602622,;ACD,non_coding_transcript_exon_variant,,ENST00000602860,;ACD,non_coding_transcript_exon_variant,,ENST00000602519,;ACD,non_coding_transcript_exon_variant,,ENST00000602945,;ACD,non_coding_transcript_exon_variant,,ENST00000602780,;ACD,non_coding_transcript_exon_variant,,ENST00000602821,;ACD,intron_variant,,ENST00000602423,;PARD6A,upstream_gene_variant,,ENST00000602727,;ENKD1,downstream_gene_variant,,ENST00000602942,;RLTPR,downstream_gene_variant,,ENST00000602368,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,upstream_gene_variant,,ENST00000602656,;RLTPR,downstream_gene_variant,,ENST00000602705,;ENKD1,downstream_gene_variant,,ENST00000602642,;							LOW	486/1635		ACD_HUMAN			Transcript			.	ENSP00000377496		CCDS42181.1			1	
LONP1	0	LGGM	GRCh37	19	5719805	5719805	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000360614.3:c.339G>T	p.Thr113=	p.T113=	ENST00000360614	NM_004793.3	113	acG/acT	0	1	1	UPI000012E7EF	0		ENST00000360614		ENSG00000196365	9479		9			HGNC	p.T113T		LONP1		SNV			1				ENST00000360614	protein_coding			HAMAP:MF_03120,hmmpanther:PTHR10046:SF23,hmmpanther:PTHR10046,PIRSF_domain:PIRSF001174		T		A		497/3236				K7EKE6_HUMAN,F5GZ27_HUMAN			YES	LONP1,synonymous_variant,p.=,ENST00000360614,NM_004793.3;LONP1,synonymous_variant,p.=,ENST00000593119,NM_001276479.1;LONP1,synonymous_variant,p.=,ENST00000587365,;LONP1,5_prime_UTR_variant,,ENST00000585374,;LONP1,5_prime_UTR_variant,,ENST00000590729,;LONP1,intron_variant,,ENST00000540670,NM_001276480.1;CATSPERD,upstream_gene_variant,,ENST00000381624,NM_152784.3;CATSPERD,upstream_gene_variant,,ENST00000381614,;LONP1,non_coding_transcript_exon_variant,,ENST00000590511,;LONP1,non_coding_transcript_exon_variant,,ENST00000590728,;LONP1,synonymous_variant,p.=,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;LONP1,intron_variant,,ENST00000586617,;							LOW	339/2880		LONM_HUMAN			Transcript			.	ENSP00000353826		CCDS12148.1			1	
STK35	0	LGGM	GRCh37	20	2097531	2097531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000381482.3:c.1112G>T	p.Arg371Leu	p.R371L	ENST00000381482		371	cGg/cTg	0	1	1	UPI00003FCD67	0	getma.org/pdb.php?prot=STK35_HUMAN&from=202&to=527&var=R371L	ENST00000381482		ENSG00000125834	16254		24	0.885		HGNC	p.R371L		STK35		SNV							ENST00000381482	protein_coding	getma.org/?cm=var&var=hg19,20,2097531,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF59,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		T	low	1383/6685		getma.org/?cm=msa&ty=f&p=STK35_HUMAN&rb=202&re=527&var=R371L	deleterious(0.04)				YES	STK35,missense_variant,p.Arg371Leu,ENST00000381482,;STK35,missense_variant,p.Arg238Leu,ENST00000246032,NM_080836.3;STK35,intron_variant,,ENST00000400064,;STK35,missense_variant,p.Arg232Leu,ENST00000493263,;							MODERATE	1112/1605	R371L	STK35_HUMAN			Transcript		benign(0.355)	.	ENSP00000370891		CCDS13024.2			1	
OR6B1	0	LGGM	GRCh37	7	143701160	143701160	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	3	.	.	ENST00000408922.2:c.71G>T	p.Arg24Leu	p.R24L	ENST00000408922	NM_001005281.1	24	cGg/cTg	0	1	1	UPI0000041B18	0	getma.org/pdb.php?prot=OR6B1_HUMAN&from=1&to=138&var=R24L	ENST00000408922		ENSG00000221813	8354		33	1.965		HGNC	p.R24L		OR6B1		SNV							ENST00000408922	protein_coding	getma.org/?cm=var&var=hg19,7,143701160,G,T&fts=all		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF174,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R/L		T	medium	139/1047		getma.org/?cm=msa&ty=f&p=OR6B1_HUMAN&rb=1&re=138&var=R24L	deleterious(0)				YES	OR6B1,missense_variant,p.Arg24Leu,ENST00000408922,NM_001005281.1;							MODERATE	71/936	R24L	OR6B1_HUMAN			Transcript		benign(0.082)	.	ENSP00000386151		CCDS43667.1			1	
DDX41	0	LGGM	GRCh37	5	176942001	176942001	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000507955.1:c.714C>A	p.Pro238=	p.P238=	ENST00000507955	NM_016222.2	238	ccC/ccA	0	1	1	UPI0000125164	0		ENST00000507955		ENSG00000183258	18674		18			HGNC	p.P256P		DDX41		SNV							ENST00000330503	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF20,PROSITE_profiles:PS51192		P		T		1238/2607				B3KRK2_HUMAN			YES	DDX41,synonymous_variant,p.=,ENST00000507955,NM_016222.2;DDX41,synonymous_variant,p.=,ENST00000330503,;FAM193B,downstream_gene_variant,,ENST00000329540,;FAM193B,downstream_gene_variant,,ENST00000443375,;FAM193B,downstream_gene_variant,,ENST00000514747,NM_001190946.1;DOK3,upstream_gene_variant,,ENST00000312943,NM_001144875.1;FAM193B,downstream_gene_variant,,ENST00000524677,;DOK3,upstream_gene_variant,,ENST00000377112,NM_001144876.1;DOK3,upstream_gene_variant,,ENST00000501403,;DOK3,upstream_gene_variant,,ENST00000509310,;DOK3,upstream_gene_variant,,ENST00000510389,;DDX41,downstream_gene_variant,,ENST00000506965,;FAM193B,downstream_gene_variant,,ENST00000504130,;DDX41,synonymous_variant,p.=,ENST00000508279,;DDX41,3_prime_UTR_variant,,ENST00000509576,;DDX41,3_prime_UTR_variant,,ENST00000504781,;DDX41,non_coding_transcript_exon_variant,,ENST00000505081,;DDX41,non_coding_transcript_exon_variant,,ENST00000503078,;DDX41,non_coding_transcript_exon_variant,,ENST00000507900,;DDX41,non_coding_transcript_exon_variant,,ENST00000512431,;DDX41,non_coding_transcript_exon_variant,,ENST00000511040,;DDX41,non_coding_transcript_exon_variant,,ENST00000513562,;FAM193B,downstream_gene_variant,,ENST00000506955,;FAM193B,downstream_gene_variant,,ENST00000510479,;FAM193B,downstream_gene_variant,,ENST00000510163,;FAM193B,downstream_gene_variant,,ENST00000505569,;DDX41,downstream_gene_variant,,ENST00000515562,;DOK3,upstream_gene_variant,,ENST00000502380,;DDX41,upstream_gene_variant,,ENST00000504807,;DDX41,upstream_gene_variant,,ENST00000512334,;FAM193B,downstream_gene_variant,,ENST00000513282,;DDX41,upstream_gene_variant,,ENST00000512027,;FAM193B,downstream_gene_variant,,ENST00000506879,;DDX41,downstream_gene_variant,,ENST00000510171,;							LOW	714/1869		DDX41_HUMAN			Transcript			.	ENSP00000422753		CCDS4427.1			1	
RBP3	0	LGGM	GRCh37	10	48390753	48390753	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	3	.	.	ENST00000224600.4:c.125C>A	p.Pro42Gln	p.P42Q	ENST00000224600	NM_002900.2	42	cCg/cAg	0	1	1	UPI000012D87A	0	NA	ENST00000224600		ENSG00000107618	9921		25	2.34		HGNC	p.P42Q		RBP3		SNV			1				ENST00000224600	protein_coding	getma.org/?cm=var&var=hg19,10,48390753,G,T&fts=all		hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Gene3D:3.30.750.44,Superfamily_domains:SSF52096		P/Q		T	medium	239/4276		getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=1&re=70&var=P42Q	deleterious(0)				YES	RBP3,missense_variant,p.Pro42Gln,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;							MODERATE	125/3744	P42Q	RET3_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000224600		CCDS7218.1			1	
MROH6	0	LGGM	GRCh37	8	144652792	144652792	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	3	.	.	ENST00000398882.3:c.756G>T	p.Ser252=	p.S252=	ENST00000398882	NM_001100878.1	252	tcG/tcT	0	1	1	UPI0000DD7EFB	0		ENST00000398882		ENSG00000204839	27814		24			HGNC	p.S252S		MROH6		SNV							ENST00000398882	protein_coding			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF7,Superfamily_domains:SSF48371		S		A		1013/3469				E9PJR4_HUMAN			YES	MROH6,synonymous_variant,p.=,ENST00000398882,NM_001100878.1;MROH6,synonymous_variant,p.=,ENST00000529971,;NAPRT1,downstream_gene_variant,,ENST00000449291,;MROH6,upstream_gene_variant,,ENST00000533679,;NAPRT1,downstream_gene_variant,,ENST00000435154,;MROH6,upstream_gene_variant,,ENST00000524906,;MROH6,upstream_gene_variant,,ENST00000534459,;NAPRT1,downstream_gene_variant,,ENST00000340490,;NAPRT1,downstream_gene_variant,,ENST00000276844,;NAPRT1,downstream_gene_variant,,ENST00000426292,NM_145201.4,NM_001286829.1;MROH6,upstream_gene_variant,,ENST00000532862,;RP11-661A12.9,upstream_gene_variant,,ENST00000531730,;NAPRT1,downstream_gene_variant,,ENST00000460623,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,upstream_gene_variant,,ENST00000533582,;MROH6,upstream_gene_variant,,ENST00000533210,;NAPRT1,downstream_gene_variant,,ENST00000464332,;NAPRT1,downstream_gene_variant,,ENST00000525583,;NAPRT1,downstream_gene_variant,,ENST00000488096,;MROH6,upstream_gene_variant,,ENST00000533120,;MROH6,upstream_gene_variant,,ENST00000533083,;NAPRT1,downstream_gene_variant,,ENST00000529179,;NAPRT1,downstream_gene_variant,,ENST00000498076,;							LOW	756/2160		MROH6_HUMAN			Transcript			.	ENSP00000381857		CCDS47928.1			1	
ENTREP1	0	LGGM	GRCh37	9	71992636	71992636	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000257515.8:c.470C>A	p.Ser157Ter	p.S157*	ENST00000257515	NM_004816.3	157	tCg/tAg	0	1	1	UPI000022D765	0	NA	ENST00000257515		ENSG00000135063	24820		18	0		HGNC	p.S157X		FAM189A2		SNV							ENST00000257515	protein_coding	getma.org/?cm=var&var=hg19,9,71992636,C,A&fts=all		hmmpanther:PTHR17615:SF8,hmmpanther:PTHR17615		S/*		A	NA	890/2423		NA					YES	FAM189A2,stop_gained,p.Ser157Ter,ENST00000257515,NM_004816.3;FAM189A2,stop_gained,p.Ser157Ter,ENST00000455972,NM_001127608.1;FAM189A2,5_prime_UTR_variant,,ENST00000303068,;FAM189A2,non_coding_transcript_exon_variant,,ENST00000460871,;							HIGH	470/1353	S157*	F1892_HUMAN			Transcript			.	ENSP00000257515		CCDS6629.1			1	
NGEF	0	LGGM	GRCh37	2	233752783	233752783	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	3	.	.	ENST00000264051.3:c.1307G>T	p.Arg436Leu	p.R436L	ENST00000264051	NM_019850.2	436	cGg/cTg	0	1	1	UPI000013D4AE	0	getma.org/pdb.php?prot=NGEF_HUMAN&from=277&to=456&var=R436L	ENST00000264051		ENSG00000066248	7807		22	0.895		HGNC	p.R159L	rs572634482	NGEF	0.000378	SNV							ENST00000416114	protein_coding	getma.org/?cm=var&var=hg19,2,233752783,C,A&fts=all	T:0	Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF8,SMART_domains:SM00325,Superfamily_domains:SSF48065		R/L		A	low	1586/3215		getma.org/?cm=msa&ty=f&p=NGEF_HUMAN&rb=277&re=456&var=R436L	deleterious(0.02)	C9JTV7_HUMAN,B4DDI2_HUMAN	T:0	T:0	YES	NGEF,missense_variant,p.Arg436Leu,ENST00000264051,NM_019850.2;NGEF,missense_variant,p.Arg344Leu,ENST00000373552,NM_001114090.1;NGEF,missense_variant,p.Arg159Leu,ENST00000539537,;NGEF,missense_variant,p.Arg159Leu,ENST00000416114,;NGEF,missense_variant,p.Arg28Leu,ENST00000424488,;NGEF,downstream_gene_variant,,ENST00000458735,;NGEF,downstream_gene_variant,,ENST00000420650,;NGEF,non_coding_transcript_exon_variant,,ENST00000461944,;NGEF,upstream_gene_variant,,ENST00000489127,;		T:0.0002					MODERATE	1307/2133	R436L	NGEF_HUMAN		T:0	Transcript		possibly_damaging(0.674)	.	ENSP00000264051	4.94E-05	CCDS2500.1		T:0.001	1	
APOBEC3A	0	LGGM	GRCh37	22	39357548	39357548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000402255.1:c.331C>A	p.Arg111Ser	p.R111S	ENST00000402255		111	Cgt/Agt	0	1		UPI00001318F4	0	getma.org/pdb.php?prot=ABC3A_HUMAN&from=1&to=132&var=R111S	ENST00000249116		ENSG00000128383	17343		18	1.15		HGNC	p.R111S		APOBEC3A		SNV							ENST00000249116	protein_coding	getma.org/?cm=var&var=hg19,22,39357548,C,A&fts=all		hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF14,Superfamily_domains:SSF53927		R/S		A	low	501/1444		getma.org/?cm=msa&ty=f&p=ABC3A_HUMAN&rb=1&re=132&var=R111S	deleterious(0.02)					APOBEC3A,missense_variant,p.Arg111Ser,ENST00000402255,;APOBEC3A,missense_variant,p.Arg111Ser,ENST00000249116,NM_145699.3,NM_001270406.1;APOBEC3A,downstream_gene_variant,,ENST00000488758,;							MODERATE	331/600	R111S	ABC3A_HUMAN			Transcript		benign(0.015)	.	ENSP00000249116		CCDS13981.1			1	
UBA7	0	LGGM	GRCh37	3	49851068	49851068	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	3	.	.	ENST00000333486.3:c.69C>A	p.Gly23=	p.G23=	ENST00000333486	NM_003335.2	23	ggC/ggA	0	1	1	UPI000006E3F8	0		ENST00000333486		ENSG00000182179	12471		16			HGNC	p.G23G		UBA7		SNV							ENST00000333486	protein_coding			Gene3D:3.40.50.720,hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF143,Superfamily_domains:SSF69572,TIGRFAM_domain:TIGR01408		G		T		228/3299							YES	UBA7,synonymous_variant,p.=,ENST00000333486,NM_003335.2;UBA7,non_coding_transcript_exon_variant,,ENST00000494212,;UBA7,upstream_gene_variant,,ENST00000460703,;UBA7,upstream_gene_variant,,ENST00000483751,;UBA7,upstream_gene_variant,,ENST00000478688,;UBA7,upstream_gene_variant,,ENST00000488536,;UBA7,upstream_gene_variant,,ENST00000478875,;UBA7,upstream_gene_variant,,ENST00000473992,;UBA7,upstream_gene_variant,,ENST00000460516,;UBA7,upstream_gene_variant,,ENST00000489826,;							LOW	69/3039		UBA7_HUMAN			Transcript			.	ENSP00000333266		CCDS2805.1			1	
HUS1	0	LGGM	GRCh37	7	48019084	48019084	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	3	.	.	ENST00000258774.5:c.33C>A	p.Ala11=	p.A11=	ENST00000258774	NM_004507.3	11	gcC/gcA	0	1	1	UPI000006FE43	0		ENST00000258774		ENSG00000136273	5309		9			HGNC	p.A11A		HUS1		SNV							ENST00000258774	protein_coding			Pfam_domain:PF04005,PIRSF_domain:PIRSF011312,hmmpanther:PTHR12900,hmmpanther:PTHR12900:SF2		A		T		57/2935				C9JCK8_HUMAN,C9JA95_HUMAN,B4DFI9_HUMAN,A4D2F2_HUMAN			YES	HUS1,synonymous_variant,p.=,ENST00000258774,NM_004507.3;HUS1,5_prime_UTR_variant,,ENST00000432325,;HUS1,5_prime_UTR_variant,,ENST00000432627,;HUS1,5_prime_UTR_variant,,ENST00000446009,;HUS1,synonymous_variant,p.=,ENST00000436444,;HUS1,5_prime_UTR_variant,,ENST00000458191,;HUS1,non_coding_transcript_exon_variant,,ENST00000468868,;HUS1,upstream_gene_variant,,ENST00000442024,;HUS1,upstream_gene_variant,,ENST00000433977,;							LOW	33/843		HUS1_HUMAN			Transcript			.	ENSP00000258774		CCDS34635.1			1	
ALOX12B	0	LGGM	GRCh37	17	7980419	7980419	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000319144.4:c.1164G>T	p.Ala388=	p.A388=	ENST00000319144	NM_001139.2	388	gcG/gcT	0	1	1	UPI000000D996	0		ENST00000319144		ENSG00000179477	430		12			HGNC	p.A388A		ALOX12B		SNV			1				ENST00000319144	protein_coding			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:3.10.450.60,Superfamily_domains:SSF48484,Prints_domain:PR00087		A		A		1425/2502							YES	ALOX12B,synonymous_variant,p.=,ENST00000319144,NM_001139.2;AC129492.6,upstream_gene_variant,,ENST00000399413,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000577351,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000583276,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000584116,;							LOW	1164/2106		LX12B_HUMAN			Transcript			.	ENSP00000315167		CCDS11129.1			1	
C16orf11	0	LGGM	GRCh37	16	613344	613344	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000409413.3:c.50G>T	p.Arg17Leu	p.R17L	ENST00000409413	NM_145270.2	17	cGg/cTg	0	1	1	UPI000006F4B0	0	NA	ENST00000409413		ENSG00000161992	14139		12	1.78		HGNC	p.R17L		C16orf11		SNV							ENST00000409413	protein_coding	getma.org/?cm=var&var=hg19,16,613344,G,T&fts=all		hmmpanther:PTHR14678,hmmpanther:PTHR14678:SF2		R/L		T	low	329/2216		getma.org/?cm=msa&ty=f&p=CP011_HUMAN&rb=1&re=541&var=R17L	deleterious(0)				YES	C16orf11,missense_variant,p.Arg17Leu,ENST00000409413,NM_145270.2;NHLRC4,upstream_gene_variant,,ENST00000424439,;NHLRC4,upstream_gene_variant,,ENST00000540585,NM_176677.1;PIGQ,upstream_gene_variant,,ENST00000409527,;PIGQ,upstream_gene_variant,,ENST00000293874,;							MODERATE	50/1716	R17L	CP011_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000386499		CCDS45365.1			1	
GRID1	0	LGGM	GRCh37	10	87966203	87966203	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	3	.	.	ENST00000327946.7:c.438C>A	p.Pro146=	p.P146=	ENST00000327946	NM_017551.2	146	ccC/ccA	0	1	1	UPI00001D8051	0		ENST00000327946		ENSG00000182771	4575		12			HGNC	p.P146P		GRID1		SNV							ENST00000327946	protein_coding			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF108,Pfam_domain:PF01094,Superfamily_domains:SSF53822		P		T		524/5834				B7Z7L0_HUMAN			YES	GRID1,synonymous_variant,p.=,ENST00000327946,NM_017551.2;GRID1,synonymous_variant,p.=,ENST00000464741,;							LOW	438/3030		GRID1_HUMAN			Transcript			.	ENSP00000330148		CCDS31236.1			1	
KCNH5	0	LGGM	GRCh37	14	63468107	63468107	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	3	.	.	ENST00000322893.7:c.375G>T	p.Leu125=	p.L125=	ENST00000322893	NM_139318.4	125	ctG/ctT	0	1	1	UPI0000039E2D	0		ENST00000322893		ENSG00000140015	6254		25			HGNC	p.L67L		KCNH5		SNV							ENST00000394968	protein_coding			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		L		A		644/4175							YES	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,;							LOW	375/2967		KCNH5_HUMAN			Transcript			.	ENSP00000321427		CCDS9756.1			1	
MKI67	0	LGGM	GRCh37	10	129902207	129902207	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	3	.	.	ENST00000368654.3:c.7897C>A	p.His2633Asn	p.H2633N	ENST00000368654	NM_002417.4	2633	Cac/Aac	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		30	0.55		HGNC	p.H2273N		MKI67		SNV							ENST00000368653	protein_coding	getma.org/?cm=var&var=hg19,10,129902207,G,T&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065		H/N		T	neutral	8273/12678		getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=2581&re=2690&var=H2633N	tolerated(0.38)				YES	MKI67,missense_variant,p.His2633Asn,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.His2273Asn,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;							MODERATE	7897/9771	H2633N	KI67_HUMAN			Transcript		possibly_damaging(0.681)	.	ENSP00000357643		CCDS7659.1			1	
CUBN	0	LGGM	GRCh37	10	17024556	17024556	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	3	.	.	ENST00000377833.4:c.4622G>T	p.Arg1541Leu	p.R1541L	ENST00000377833	NM_001081.3	1541	cGg/cTg	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=1510&to=1616&var=R1541L	ENST00000377833		ENSG00000107611	2548		31	1.65		HGNC	p.R63L	COSM683760	CUBN		SNV			1			1	ENST00000438254	protein_coding	getma.org/?cm=var&var=hg19,10,17024556,C,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854		R/L		A	low	4688/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1510&re=1616&var=R1541L	tolerated(0.07)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Arg1541Leu,ENST00000377833,NM_001081.3;CUBN,missense_variant,p.Arg63Leu,ENST00000438254,;					1		MODERATE	4622/10872	R1541L	CUBN_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000367064		CCDS7113.1			1	
ITIH3	0	LGGM	GRCh37	3	52841902	52841902	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	3	.	.	ENST00000449956.2:c.2401C>A	p.Arg801=	p.R801=	ENST00000449956	NM_002217.3	801	Cgg/Agg	0	1	1	UPI00005CE290	0		ENST00000449956		ENSG00000162267	6168		21			HGNC	p.R609R		ITIH3		SNV							ENST00000416872	protein_coding			Pfam_domain:PF06668,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF24		R		A		2407/3007							YES	ITIH3,synonymous_variant,p.=,ENST00000449956,NM_002217.3;ITIH3,synonymous_variant,p.=,ENST00000416872,;ITIH3,non_coding_transcript_exon_variant,,ENST00000493136,;ITIH3,downstream_gene_variant,,ENST00000495622,;ITIH3,downstream_gene_variant,,ENST00000475931,;							LOW	2401/2673		ITIH3_HUMAN			Transcript			.	ENSP00000415769		CCDS46845.1			1	
CPT2	0	LGGM	GRCh37	1	53676579	53676579	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	3	.	.	ENST00000371486.3:c.1233G>T	p.Thr411=	p.T411=	ENST00000371486	NM_000098.2	411	acG/acT	0	1	1	UPI0000128303	0		ENST00000371486		ENSG00000157184	2330		28			HGNC	p.T411T		CPT2		SNV			1				ENST00000371486	protein_coding			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF51,Pfam_domain:PF00755,Superfamily_domains:SSF52777		T		T		1748/3094							YES	CPT2,synonymous_variant,p.=,ENST00000371486,NM_000098.2;C1orf123,downstream_gene_variant,,ENST00000294360,NM_017887.1;RP5-1024G6.2,intron_variant,,ENST00000452466,;C1orf123,downstream_gene_variant,,ENST00000470385,;C1orf123,downstream_gene_variant,,ENST00000483739,;C1orf123,downstream_gene_variant,,ENST00000478839,;							LOW	1233/1977		CPT2_HUMAN			Transcript			.	ENSP00000360541		CCDS575.1			1	
HYPK	0	LGGM	GRCh37	15	44093360	44093360	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	3	.	.	ENST00000406925.1:c.217C>A	p.Arg73=	p.R73=	ENST00000406925		73	Cgg/Agg	0	1	1	UPI000000D937	0		ENST00000406925		ENSG00000242028	18418		18			HGNC	p.R73R		HYPK		SNV							ENST00000406925	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR31184		R		A		4328/4777							YES	HYPK,synonymous_variant,p.=,ENST00000406925,;SERF2,synonymous_variant,p.=,ENST00000600633,NM_016400.3;HYPK,synonymous_variant,p.=,ENST00000442995,;SERF2,synonymous_variant,p.=,ENST00000594896,;HYPK,intron_variant,,ENST00000458412,;SERINC4,upstream_gene_variant,,ENST00000319327,NM_001258031.1;SERINC4,upstream_gene_variant,,ENST00000299969,;SERINC4,upstream_gene_variant,,ENST00000249714,NM_001258032.1;MFAP1,downstream_gene_variant,,ENST00000267812,NM_005926.2;SERF2,downstream_gene_variant,,ENST00000409291,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000430901,;HYPK,non_coding_transcript_exon_variant,,ENST00000498605,;HYPK,intron_variant,,ENST00000497142,;SERF2,3_prime_UTR_variant,,ENST00000448830,;SERF2,3_prime_UTR_variant,,ENST00000409617,;SERINC4,upstream_gene_variant,,ENST00000457418,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000448553,;SERINC4,upstream_gene_variant,,ENST00000412697,;SERINC4,upstream_gene_variant,,ENST00000476490,;MFAP1,downstream_gene_variant,,ENST00000484386,;							LOW	217/390		HYPK_HUMAN			Transcript			.	ENSP00000384474		CCDS10104.1			1	
MAP1B	0	LGGM	GRCh37	5	71489696	71489696	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	5	.	.	ENST00000296755.7:c.514G>T	p.Gly172Trp	p.G172W	ENST00000296755	NM_005909.3	172	Ggg/Tgg	0	1	1	UPI000013E382	0	NA	ENST00000296755		ENSG00000131711	6836		36	1.905		HGNC	p.G172W		MAP1B		SNV							ENST00000296755	protein_coding	getma.org/?cm=var&var=hg19,5,71489696,G,T&fts=all		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		G/W		T	medium	812/12034		getma.org/?cm=msa&ty=f&p=MAP1B_HUMAN&rb=1&re=561&var=G172W		D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,missense_variant,p.Gly172Trp,ENST00000296755,NM_005909.3;MAP1B,missense_variant,p.Gly46Trp,ENST00000504492,;MAP1B,missense_variant,p.Gly189Trp,ENST00000511641,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;							MODERATE	514/7407	G172W	MAP1B_HUMAN			Transcript		unknown(0)	.	ENSP00000296755		CCDS4012.1			1	
GLG1	0	LGGM	GRCh37	16	74491893	74491893	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000205061.5:c.3145-1G>T		p.X1049_splice	ENST00000205061	NM_012201.5			0	1		UPI000013C652	0		ENST00000422840		ENSG00000090863	4316		44			HGNC	-		GLG1		SNV							ENST00000205061	protein_coding							A		-/4748				Q6ZMF1_HUMAN,H3BQT1_HUMAN				GLG1,splice_acceptor_variant,,ENST00000422840,NM_001145667.1;GLG1,splice_acceptor_variant,,ENST00000205061,NM_012201.5;GLG1,splice_acceptor_variant,,ENST00000447066,NM_001145666.1;RNU6-237P,downstream_gene_variant,,ENST00000515985,;GLG1,splice_acceptor_variant,,ENST00000562090,;GLG1,splice_acceptor_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561942,;GLG1,downstream_gene_variant,,ENST00000561481,;GLG1,downstream_gene_variant,,ENST00000563646,;							HIGH	3145/3540		GSLG1_HUMAN			Transcript			.	ENSP00000405984		CCDS45527.1			1	
CKLF	0	LGGM	GRCh37	16	66599843	66599843	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000264001.4:c.388C>A	p.Arg130=	p.R130=	ENST00000264001	NM_016951.3	130	Cgg/Agg	0	1	1	UPI0000036209	0		ENST00000264001		ENSG00000217555	13253		47			HGNC	p.R98R		CKLF		SNV							ENST00000345436	protein_coding			PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF36		R		A		537/669							YES	CKLF,synonymous_variant,p.=,ENST00000264001,NM_016951.3;CKLF,synonymous_variant,p.=,ENST00000345436,NM_181641.2;CKLF,synonymous_variant,p.=,ENST00000351137,NM_181640.2;CKLF,synonymous_variant,p.=,ENST00000362093,NM_016326.3;CKLF,intron_variant,,ENST00000417030,NM_001040138.2;CKLF-CMTM1,intron_variant,,ENST00000532838,;CKLF-CMTM1,intron_variant,,ENST00000527729,NM_001202509.1;CKLF-CMTM1,intron_variant,,ENST00000529718,NM_001204098.1;CMTM1,upstream_gene_variant,,ENST00000379500,NM_181268.2,NM_052999.3;CMTM1,upstream_gene_variant,,ENST00000328020,;CMTM1,upstream_gene_variant,,ENST00000533953,;CMTM1,upstream_gene_variant,,ENST00000457188,NM_181269.2;CMTM1,upstream_gene_variant,,ENST00000528324,NM_181270.2;CMTM1,upstream_gene_variant,,ENST00000332695,NM_181271.2;CMTM1,upstream_gene_variant,,ENST00000336328,NM_181272.2;CMTM1,upstream_gene_variant,,ENST00000531885,NM_181283.2;CMTM1,upstream_gene_variant,,ENST00000529506,;CMTM1,upstream_gene_variant,,ENST00000533666,NM_181296.2;CMTM1,upstream_gene_variant,,ENST00000535705,;CKLF,non_coding_transcript_exon_variant,,ENST00000563092,;CKLF,intron_variant,,ENST00000534692,;CKLF-CMTM1,intron_variant,,ENST00000527845,;CMTM1,upstream_gene_variant,,ENST00000479381,;CMTM1,upstream_gene_variant,,ENST00000528441,;CMTM1,upstream_gene_variant,,ENST00000529386,;CMTM1,upstream_gene_variant,,ENST00000533915,;CMTM1,upstream_gene_variant,,ENST00000333001,;CMTM1,upstream_gene_variant,,ENST00000530141,;CMTM1,upstream_gene_variant,,ENST00000465057,;CMTM1,upstream_gene_variant,,ENST00000534143,;CMTM1,upstream_gene_variant,,ENST00000528484,;CMTM1,upstream_gene_variant,,ENST00000533078,;							LOW	388/459		CKLF_HUMAN			Transcript			.	ENSP00000264001		CCDS10807.1			1	
POLR2A	0	LGGM	GRCh37	17	7415167	7415167	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	5	.	.	ENST00000322644.6:c.4139G>T	p.Arg1380Leu	p.R1380L	ENST00000322644	NM_000937.4	1380	cGg/cTg	0	1	1	UPI0000140EB9	0	getma.org/pdb.php?prot=RPB1_HUMAN&from=830&to=1428&var=R1380L	ENST00000322644		ENSG00000181222	9187		22	2.5		HGNC	p.R1380L		POLR2A		SNV							ENST00000322644	protein_coding	getma.org/?cm=var&var=hg19,17,7415167,G,T&fts=all		Pfam_domain:PF04998,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484		R/L		T	medium	4538/6749		getma.org/?cm=msa&ty=f&p=RPB1_HUMAN&rb=830&re=1428&var=R1380L					YES	POLR2A,missense_variant,p.Arg1380Leu,ENST00000322644,NM_000937.4;POLR2A,non_coding_transcript_exon_variant,,ENST00000576553,;POLR2A,downstream_gene_variant,,ENST00000573603,;							MODERATE	4139/5913	R1380L	RPB1_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000314949		CCDS32548.1			1	
GIMAP4	0	LGGM	GRCh37	7	150266975	150266975	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000255945.2:c.-14-1G>T		p.X5_splice	ENST00000255945	NM_018326.2			0	1	1	UPI0000073CB0	0		ENST00000255945		ENSG00000133574	21872		26			HGNC	-		GIMAP4		SNV							-	protein_coding							T		-/2058							YES	GIMAP4,splice_acceptor_variant,,ENST00000255945,NM_018326.2;GIMAP4,splice_acceptor_variant,,ENST00000461940,;GIMAP4,splice_acceptor_variant,,ENST00000479232,;GIMAP4,splice_acceptor_variant,,ENST00000478135,;GIMAP4,intron_variant,,ENST00000494750,;							HIGH	-/990		GIMA4_HUMAN			Transcript			.	ENSP00000255945		CCDS5904.1			1	
KAT2B	0	LGGM	GRCh37	3	20142778	20142778	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000263754.4:c.670-1G>T		p.X224_splice	ENST00000263754	NM_003884.4			0	1	1	UPI00002132DE	0		ENST00000263754		ENSG00000114166	8638		40			HGNC	-		KAT2B		SNV							ENST00000263754	protein_coding							T		-/4833							YES	KAT2B,splice_acceptor_variant,,ENST00000263754,NM_003884.4;KAT2B,downstream_gene_variant,,ENST00000426228,;							HIGH	670/2499		KAT2B_HUMAN			Transcript			.	ENSP00000263754		CCDS2634.1			1	
ELP3	0	LGGM	GRCh37	8	28013458	28013458	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000256398.8:c.1101-1G>T		p.X367_splice	ENST00000256398	NM_018091.5			0	1	1	UPI000006F0B5	0		ENST00000256398		ENSG00000134014	20696		37			HGNC	-		ELP3		SNV							ENST00000521015	protein_coding							T		-/3452				E5RIZ7_HUMAN,E5RIC0_HUMAN,E5RHY2_HUMAN,E5RHR2_HUMAN,B4DKA4_HUMAN,B4DIG1_HUMAN			YES	ELP3,splice_acceptor_variant,,ENST00000256398,NM_018091.5,NM_001284220.1;ELP3,splice_acceptor_variant,,ENST00000521015,NM_001284220.1,NM_001284222.1;ELP3,splice_acceptor_variant,,ENST00000380353,NM_001284226.1;ELP3,splice_acceptor_variant,,ENST00000542181,;ELP3,splice_acceptor_variant,,ENST00000524103,;ELP3,splice_acceptor_variant,,ENST00000537665,NM_001284224.1,NM_001284225.1;ELP3,upstream_gene_variant,,ENST00000523357,;ELP3,upstream_gene_variant,,ENST00000517975,;ELP3,splice_acceptor_variant,,ENST00000520110,;ELP3,splice_acceptor_variant,,ENST00000518112,;ELP3,splice_acceptor_variant,,ENST00000519261,;ELP3,splice_acceptor_variant,,ENST00000523687,;							HIGH	1101/1644		ELP3_HUMAN			Transcript			.	ENSP00000256398		CCDS6065.1			1	
UTP20	0	LGGM	GRCh37	12	101739331	101739331	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000261637.4:c.4606-1G>T		p.X1536_splice	ENST00000261637	NM_014503.2			0	1	1	UPI00001FB38B	0		ENST00000261637		ENSG00000120800	17897		40			HGNC	-		UTP20		SNV							ENST00000261637	protein_coding							T		-/9025							YES	UTP20,splice_acceptor_variant,,ENST00000261637,NM_014503.2;							HIGH	4606/8358		UTP20_HUMAN			Transcript			.	ENSP00000261637		CCDS9081.1			1	
ADCY10	0	LGGM	GRCh37	1	167803316	167803316	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000367851.4:c.3310-1G>T		p.X1104_splice	ENST00000367851	NM_018417.4			0	1	1	UPI0000204D00	0		ENST00000367851		ENSG00000143199	21285		22			HGNC	-		ADCY10		SNV			1				ENST00000545172	protein_coding							A		-/5051							YES	ADCY10,splice_acceptor_variant,,ENST00000367848,;ADCY10,splice_acceptor_variant,,ENST00000367851,NM_018417.4;ADCY10,splice_acceptor_variant,,ENST00000545172,NM_001167749.1;ADCY10,splice_acceptor_variant,,ENST00000485964,;							HIGH	3310/4833		ADCYA_HUMAN			Transcript			.	ENSP00000356825		CCDS1265.1			1	
LRRC6	0	LGGM	GRCh37	8	133650354	133650354	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000250173.1:c.257-1G>T		p.X86_splice	ENST00000250173				0	1		UPI000000DBC5	0		ENST00000519595		ENSG00000129295	16725		43			HGNC	-		LRRC6		SNV			1				ENST00000519595	protein_coding							A		-/1734								LRRC6,splice_acceptor_variant,,ENST00000519595,NM_012472.4;LRRC6,splice_acceptor_variant,,ENST00000518642,;LRRC6,splice_acceptor_variant,,ENST00000250173,;LRRC6,splice_acceptor_variant,,ENST00000520446,;LRRC6,splice_acceptor_variant,,ENST00000523503,;LRRC6,splice_acceptor_variant,,ENST00000521430,;LRRC6,splice_acceptor_variant,,ENST00000522584,;							HIGH	257/1401		TILB_HUMAN			Transcript			.	ENSP00000429791					1	
PAPPA	0	LGGM	GRCh37	9	119028135	119028135	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000328252.3:c.2733-1G>T		p.X911_splice	ENST00000328252	NM_002581.3			0	1	1	UPI00001E0589	0		ENST00000328252		ENSG00000182752	8602		45			HGNC	-		PAPPA		SNV							ENST00000328252	protein_coding							T		-/10959				Q5QFB7_HUMAN,F5GZ19_HUMAN			YES	PAPPA,splice_acceptor_variant,,ENST00000328252,NM_002581.3;PAPPA,splice_acceptor_variant,,ENST00000534838,;							HIGH	2733/4884		PAPP1_HUMAN			Transcript			.	ENSP00000330658		CCDS6813.1			1	
GSTM2	0	LGGM	GRCh37	1	110211608	110211608	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000241337.4:c.174C>A	p.Pro58=	p.P58=	ENST00000241337	NM_000848.3	58	ccC/ccA	0	1	1	UPI000013CAC9	0		ENST00000241337		ENSG00000213366	4634		30			HGNC	p.P58P		GSTM2		SNV							ENST00000369829	protein_coding			Superfamily_domains:SSF52833,Gene3D:3.40.30.10,Pfam_domain:PF02798,hmmpanther:PTHR11571:SF103,hmmpanther:PTHR11571,PROSITE_profiles:PS50404		P		A		224/1157				Q9UE37_HUMAN,A8HT81_HUMAN			YES	GSTM2,synonymous_variant,p.=,ENST00000369831,;GSTM2,synonymous_variant,p.=,ENST00000442650,NM_001142368.1;GSTM2,synonymous_variant,p.=,ENST00000460717,;GSTM2,synonymous_variant,p.=,ENST00000241337,NM_000848.3;GSTM2,synonymous_variant,p.=,ENST00000369827,;GSTM2,synonymous_variant,p.=,ENST00000369829,;GSTM2,synonymous_variant,p.=,ENST00000467579,;GSTM2,5_prime_UTR_variant,,ENST00000414179,;GSTM4,downstream_gene_variant,,ENST00000326729,NM_147148.2;GSTM2,non_coding_transcript_exon_variant,,ENST00000464206,;GSTM2,non_coding_transcript_exon_variant,,ENST00000476040,;GSTM2,non_coding_transcript_exon_variant,,ENST00000568786,;GSTM2,upstream_gene_variant,,ENST00000496578,;GSTM2,upstream_gene_variant,,ENST00000472225,;GSTM2,downstream_gene_variant,,ENST00000481656,;							LOW	174/657		GSTM2_HUMAN			Transcript			.	ENSP00000241337		CCDS808.1			1	
ORC1	0	LGGM	GRCh37	1	52861917	52861917	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000371568.3:c.522G>T	p.Ala174=	p.A174=	ENST00000371568	NM_001190818.1	174	gcG/gcT	0	1		UPI000013D2FB	0		ENST00000371566		ENSG00000085840	8487		35			HGNC	p.A174A		ORC1		SNV			1				ENST00000371568	protein_coding			hmmpanther:PTHR10763,hmmpanther:PTHR10763:SF6		A		A		666/3080								ORC1,synonymous_variant,p.=,ENST00000371568,NM_001190818.1,NM_001190819.1,NM_004153.3;ORC1,synonymous_variant,p.=,ENST00000371566,;							LOW	522/2586		ORC1_HUMAN			Transcript			.	ENSP00000360621		CCDS566.1			1	
GAPDHS	0	LGGM	GRCh37	19	36034590	36034590	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000222286.4:c.917G>T	p.Arg306Leu	p.R306L	ENST00000222286	NM_014364.4	306	cGg/cTg	0	1	1	UPI000012AE83	0	getma.org/pdb.php?prot=G3PT_HUMAN&from=229&to=386&var=R306L	ENST00000222286		ENSG00000105679	24864		28	4.13		HGNC	p.R306L		GAPDHS		SNV							ENST00000222286	protein_coding	getma.org/?cm=var&var=hg19,19,36034590,G,T&fts=all		Gene3D:3.30.360.10,Pfam_domain:PF02800,PIRSF_domain:PIRSF000149,Prints_domain:PR00078,hmmpanther:PTHR10836,hmmpanther:PTHR10836:SF26,Superfamily_domains:SSF55347,TIGRFAM_domain:TIGR01534		R/L		T	high	1033/1489		getma.org/?cm=msa&ty=f&p=G3PT_HUMAN&rb=229&re=386&var=R306L	deleterious_low_confidence(0)	K7EP73_HUMAN			YES	GAPDHS,missense_variant,p.Arg306Leu,ENST00000222286,NM_014364.4;TMEM147,upstream_gene_variant,,ENST00000392204,NM_001242597.1;TMEM147,upstream_gene_variant,,ENST00000222284,NM_032635.3;TMEM147,upstream_gene_variant,,ENST00000392205,;GAPDHS,downstream_gene_variant,,ENST00000585510,;AD000090.2,non_coding_transcript_exon_variant,,ENST00000588286,;AD000090.2,non_coding_transcript_exon_variant,,ENST00000590717,;AD000090.2,intron_variant,,ENST00000589137,;AD000090.2,intron_variant,,ENST00000444728,;AD000090.2,upstream_gene_variant,,ENST00000590125,;TMEM147,upstream_gene_variant,,ENST00000595467,;TMEM147,upstream_gene_variant,,ENST00000599895,;TMEM147,upstream_gene_variant,,ENST00000477168,;TMEM147,upstream_gene_variant,,ENST00000593027,NM_001242598.1;GAPDHS,downstream_gene_variant,,ENST00000586334,;TMEM147,upstream_gene_variant,,ENST00000596232,;TMEM147,upstream_gene_variant,,ENST00000595180,;							MODERATE	917/1227	R306L	G3PT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000222286		CCDS12465.1			1	
PRAG1	0	LGGM	GRCh37	8	8239041	8239041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000520004.1:c.217G>T	p.Gly73Cys	p.G73C	ENST00000520004		73	Ggt/Tgt	0	1	1	UPI00001D82A6	0	NA	ENST00000520004		ENSG00000182319			23	1.895		Uniprot_gn	p.G73C		SGK223		SNV							ENST00000520004	protein_coding	getma.org/?cm=var&var=hg19,8,8239041,C,A&fts=all		hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972		G/C		A	low	482/4891		getma.org/?cm=msa&ty=f&p=SG223_HUMAN&rb=1&re=119&var=G73C					YES	SGK223,missense_variant,p.Gly73Cys,ENST00000520004,;SGK223,missense_variant,p.Gly73Cys,ENST00000330777,NM_001080826.1;							MODERATE	217/4209	G73C	SG223_HUMAN			Transcript		possibly_damaging(0.754)	.	ENSP00000428054		CCDS43706.1			1	
C9orf72	0	LGGM	GRCh37	9	27566701	27566701	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	4	.	.	ENST00000380003.3:c.418C>A	p.Arg140=	p.R140=	ENST00000380003	NM_001256054.1	140	Cgg/Agg	0	1	1	UPI00001D3FEF	0		ENST00000380003		ENSG00000147894	28337		66			HGNC	p.R140R		C9orf72		SNV			1				ENST00000380003	protein_coding			hmmpanther:PTHR31855,hmmpanther:PTHR31855:SF1,Pfam_domain:PF15019		R		T		482/3200				Q9NUW0_HUMAN			YES	C9orf72,synonymous_variant,p.=,ENST00000380003,NM_001256054.1,NM_018325.3;C9orf72,synonymous_variant,p.=,ENST00000379997,NM_145005.5;C9orf72,synonymous_variant,p.=,ENST00000379995,;C9orf72,non_coding_transcript_exon_variant,,ENST00000488117,;C9orf72,non_coding_transcript_exon_variant,,ENST00000461679,;							LOW	418/1446		CI072_HUMAN			Transcript			.	ENSP00000369339		CCDS6522.1			1	
COX11	0	LGGM	GRCh37	17	53045895	53045895	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000299335.3:c.113C>A	p.Pro38Gln	p.P38Q	ENST00000299335	NM_004375.3	38	cCa/cAa	0	1	1	UPI000013E580	0	NA	ENST00000299335		ENSG00000166260	2261		46	1.61		HGNC	p.P38Q		COX11		SNV							ENST00000299335	protein_coding	getma.org/?cm=var&var=hg19,17,53045895,G,T&fts=all		hmmpanther:PTHR21320,hmmpanther:PTHR21320:SF0		P/Q		T	low	252/2497		getma.org/?cm=msa&ty=f&p=COX11_HUMAN&rb=1&re=112&var=P38Q	deleterious_low_confidence(0.02)	B4DEY8_HUMAN			YES	COX11,missense_variant,p.Pro38Gln,ENST00000299335,NM_004375.3;COX11,missense_variant,p.Pro38Gln,ENST00000571584,;STXBP4,upstream_gene_variant,,ENST00000376352,NM_178509.5;STXBP4,upstream_gene_variant,,ENST00000434978,;STXBP4,upstream_gene_variant,,ENST00000405898,;STXBP4,upstream_gene_variant,,ENST00000398391,;STXBP4,upstream_gene_variant,,ENST00000299341,;COX11,missense_variant,p.Pro38Gln,ENST00000576370,;COX11,missense_variant,p.Pro38Gln,ENST00000572558,NM_001162861.1,NM_001162862.1;STXBP4,upstream_gene_variant,,ENST00000464340,;STXBP4,upstream_gene_variant,,ENST00000461444,;							MODERATE	113/831	P38Q	COX11_HUMAN			Transcript		benign(0.046)	.	ENSP00000299335		CCDS11583.1			1	
NUP210	0	LGGM	GRCh37	3	13377036	13377036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000254508.5:c.3761G>T	p.Arg1254Met	p.R1254M	ENST00000254508	NM_024923.3	1254	aGg/aTg	0	1	1	UPI00001600AF	0	NA	ENST00000254508		ENSG00000132182	30052		18	1.845		HGNC	p.R1254M	COSM394006	NUP210		SNV						1	ENST00000254508	protein_coding	getma.org/?cm=var&var=hg19,3,13377036,C,A&fts=all		hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2		R/M		A	low	3844/7191		getma.org/?cm=msa&ty=f&p=PO210_HUMAN&rb=1153&re=1352&var=R1254M	deleterious(0)				YES	NUP210,missense_variant,p.Arg1254Met,ENST00000254508,NM_024923.3;NUP210,downstream_gene_variant,,ENST00000485755,;					1		MODERATE	3761/5664	R1254M	PO210_HUMAN			Transcript		possibly_damaging(0.592)	.	ENSP00000254508		CCDS33704.1			1	
MTMR4	0	LGGM	GRCh37	17	56573132	56573132	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000323456.5:c.2371C>A	p.Gln791Lys	p.Q791K	ENST00000323456	NM_004687.4	791	Caa/Aaa	0	1	1	UPI00002010DE	0	NA	ENST00000323456		ENSG00000108389	7452		38	0.695		HGNC	p.Q734K		MTMR4		SNV							ENST00000579925	protein_coding	getma.org/?cm=var&var=hg19,17,56573132,G,T&fts=all		hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807		Q/K		T	neutral	2496/5839		getma.org/?cm=msa&ty=f&p=MTMR4_HUMAN&rb=656&re=855&var=Q791K	tolerated_low_confidence(0.95)	J3QRJ2_HUMAN			YES	MTMR4,missense_variant,p.Gln791Lys,ENST00000323456,NM_004687.4;MTMR4,missense_variant,p.Gln734Lys,ENST00000579925,;MTMR4,upstream_gene_variant,,ENST00000578259,;							MODERATE	2371/3588	Q791K	MTMR4_HUMAN			Transcript		benign(0.001)	.	ENSP00000325285		CCDS11608.1			1	
QSOX2	0	LGGM	GRCh37	9	139118621	139118621	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000358701.5:c.428G>T	p.Arg143Leu	p.R143L	ENST00000358701	NM_181701.3	143	cGg/cTg	0	1	1	UPI00004A7AC1	0	getma.org/pdb.php?prot=QSOX2_HUMAN&from=62&to=172&var=R143L	ENST00000358701		ENSG00000165661	30249		45	0.79		HGNC	p.R143L		QSOX2		SNV							ENST00000358701	protein_coding	getma.org/?cm=var&var=hg19,9,139118621,C,A&fts=all		PROSITE_profiles:PS51352,hmmpanther:PTHR22897:SF7,hmmpanther:PTHR22897,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833		R/L		A	neutral	466/4530		getma.org/?cm=msa&ty=f&p=QSOX2_HUMAN&rb=62&re=172&var=R143L	deleterious(0)				YES	QSOX2,missense_variant,p.Arg143Leu,ENST00000358701,NM_181701.3;QSOX2,upstream_gene_variant,,ENST00000455222,;							MODERATE	428/2097	R143L	QSOX2_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000351536		CCDS35178.1			1	
YLPM1	0	LGGM	GRCh37	14	75230994	75230994	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000325680.7:c.802G>T	p.Gly268Trp	p.G268W	ENST00000325680	NM_019589.2	268	Ggg/Tgg	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		38	0.55		HGNC	p.G268W		YLPM1		SNV							ENST00000238571	protein_coding	getma.org/?cm=var&var=hg19,14,75230994,G,T&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0		G/W		T	neutral	926/7017		getma.org/?cm=msa&ty=f&p=YLPM1_HUMAN&rb=1&re=288&var=G268W		B4DMQ9_HUMAN			YES	YLPM1,missense_variant,p.Gly268Trp,ENST00000325680,NM_019589.2;YLPM1,missense_variant,p.Gly268Trp,ENST00000238571,;YLPM1,missense_variant,p.Gly268Trp,ENST00000552421,;							MODERATE	802/6441	G268W	YLPM1_HUMAN			Transcript		unknown(0)	.	ENSP00000324463		CCDS45135.1			1	
MLXIP	0	LGGM	GRCh37	12	122614518	122614518	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000319080.7:c.769G>T	p.Gly257Trp	p.G257W	ENST00000319080	NM_014938.4_dupl16	257	Ggg/Tgg	0	1	1	UPI0000D6226F	0		ENST00000319080		ENSG00000175727	17055		28			HGNC	p.G257W		MLXIP		SNV							ENST00000319080	protein_coding			hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23		G/W		T		901/8427			deleterious(0.03)	F5H321_HUMAN			YES	MLXIP,missense_variant,p.Gly257Trp,ENST00000319080,NM_014938.4_dupl16;MLXIP,missense_variant,p.Gly8Trp,ENST00000535430,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,upstream_gene_variant,,ENST00000366272,;MLXIP,upstream_gene_variant,,ENST00000377037,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,non_coding_transcript_exon_variant,,ENST00000538061,;MLXIP,non_coding_transcript_exon_variant,,ENST00000535876,;MLXIP,upstream_gene_variant,,ENST00000541750,;							MODERATE	769/2760		MLXIP_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000312834					1	
TANC2	0	LGGM	GRCh37	17	61499178	61499178	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000424789.2:c.5835C>A	p.Pro1945=	p.P1945=	ENST00000424789	NM_025185.3	1945	ccC/ccA	0	1	1	UPI00015D57DF	0		ENST00000424789		ENSG00000170921	30212		42			HGNC	p.P1945P		TANC2		SNV							ENST00000424789	protein_coding			hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166		P		A		5839/11721							YES	TANC2,synonymous_variant,p.=,ENST00000424789,NM_025185.3;TANC2,synonymous_variant,p.=,ENST00000389520,;TANC2,3_prime_UTR_variant,,ENST00000583356,;RP11-269G24.3,intron_variant,,ENST00000583552,;							LOW	5835/5973		TANC2_HUMAN			Transcript			.	ENSP00000387593		CCDS45754.1			1	
KIF18B	0	LGGM	GRCh37	17	43009546	43009546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000593135.1:c.1267G>T	p.Gly423Trp	p.G423W	ENST00000593135	NM_001265577.1	423	Ggg/Tgg	0	1	1	UPI000192C418	0	NA	ENST00000593135		ENSG00000186185	27102		16	1.79		HGNC	p.G435W		KIF18B		SNV							ENST00000587309	protein_coding	getma.org/?cm=var&var=hg19,17,43009546,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF414		G/W		A	low	1365/2745		getma.org/?cm=msa&ty=f&p=KI18B_HUMAN&rb=376&re=840&var=G444W	deleterious(0.01)				YES	KIF18B,missense_variant,p.Gly435Trp,ENST00000587309,NM_001264573.1;KIF18B,missense_variant,p.Gly435Trp,ENST00000438933,;KIF18B,missense_variant,p.Gly423Trp,ENST00000593135,NM_001265577.1;KIF18B,missense_variant,p.Gly435Trp,ENST00000339151,;KIF18B,missense_variant,p.Gly444Trp,ENST00000590129,;KIF18B,downstream_gene_variant,,ENST00000585687,;							MODERATE	1267/2559	G444W	KI18B_HUMAN			Transcript		possibly_damaging(0.774)	.	ENSP00000465992		CCDS45709.2			1	
PRRC2B	0	LGGM	GRCh37	9	134353236	134353236	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000357304.4:c.4512C>A	p.Pro1504=	p.P1504=	ENST00000357304	NM_013318.3	1504	ccC/ccA	0	1	1	UPI00002374A3	0		ENST00000357304		ENSG00000130723	28121		24			HGNC	p.P1504P		PRRC2B		SNV							ENST00000357304	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		P		A		4567/11042				Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,synonymous_variant,p.=,ENST00000357304,NM_013318.3;PRRC2B,synonymous_variant,p.=,ENST00000405995,;PRRC2B,synonymous_variant,p.=,ENST00000458550,;PRRC2B,synonymous_variant,p.=,ENST00000451855,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,downstream_gene_variant,,ENST00000456307,;							LOW	4512/6690		PRC2B_HUMAN			Transcript			.	ENSP00000349856		CCDS48044.1			1	
NPR3	0	LGGM	GRCh37	5	32724836	32724836	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000265074.8:c.802C>A	p.Arg268=	p.R268=	ENST00000265074	NM_001204375.1	268	Cgg/Agg	0	1	1	UPI0000125B46	0		ENST00000265074		ENSG00000113389	7945		38			HGNC	p.R268R	rs779442645	NPR3	6.06E-05	SNV							ENST00000265074	protein_coding			Prints_domain:PR00255,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2		R		A		1145/7337							YES	NPR3,synonymous_variant,p.=,ENST00000265074,NM_001204375.1,NM_000908.3;NPR3,synonymous_variant,p.=,ENST00000434067,;NPR3,synonymous_variant,p.=,ENST00000415167,;NPR3,synonymous_variant,p.=,ENST00000415685,NM_001204376.1;NPR3,synonymous_variant,p.=,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;							LOW	802/1626		ANPRC_HUMAN			Transcript			.	ENSP00000265074	8.24E-06	CCDS56357.1			1	
ENKD1	0	LGGM	GRCh37	16	67700119	67700119	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000243878.4:c.135C>A	p.Ser45=	p.S45=	ENST00000243878	NM_032140.1	45	tcC/tcA	0	1	1	UPI00000727D7	0		ENST00000243878		ENSG00000124074	25246		12			HGNC	p.S45S		ENKD1		SNV							ENST00000243878	protein_coding			hmmpanther:PTHR21490:SF2,hmmpanther:PTHR21490		S		T		457/1579							YES	ENKD1,synonymous_variant,p.=,ENST00000243878,NM_032140.1;ENKD1,synonymous_variant,p.=,ENST00000602644,;C16orf86,upstream_gene_variant,,ENST00000403458,NM_001012984.2;PARD6A,downstream_gene_variant,,ENST00000458121,NM_001037281.1,NM_016948.2;PARD6A,downstream_gene_variant,,ENST00000219255,;PARD6A,downstream_gene_variant,,ENST00000602551,;C16orf86,upstream_gene_variant,,ENST00000602365,;C16orf86,upstream_gene_variant,,ENST00000602974,;ENKD1,upstream_gene_variant,,ENST00000602409,;ENKD1,synonymous_variant,p.=,ENST00000602415,;ENKD1,non_coding_transcript_exon_variant,,ENST00000602531,;C16orf86,upstream_gene_variant,,ENST00000459925,;C16orf86,upstream_gene_variant,,ENST00000445068,;PARD6A,downstream_gene_variant,,ENST00000602727,;ENKD1,upstream_gene_variant,,ENST00000602942,;C16orf86,upstream_gene_variant,,ENST00000602987,;ENKD1,upstream_gene_variant,,ENST00000602642,;							LOW	135/1041		ENKD1_HUMAN			Transcript			.	ENSP00000243878		CCDS10844.1			1	
SIK3	0	LGGM	GRCh37	11	116729301	116729301	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000292055.4:c.2562G>T	p.Val854=	p.V854=	ENST00000292055	NM_025164.3	854	gtG/gtT	0	1	1	UPI00001FA400	0		ENST00000292055		ENSG00000160584	29165		33			HGNC	p.V854V		SIK3		SNV							ENST00000292055	protein_coding			hmmpanther:PTHR22971		V		A		2598/6067							YES	SIK3,synonymous_variant,p.=,ENST00000445177,;SIK3,synonymous_variant,p.=,ENST00000375300,;SIK3,synonymous_variant,p.=,ENST00000292055,NM_025164.3;SIK3,intron_variant,,ENST00000375288,;SIK3,intron_variant,,ENST00000446921,NM_001281749.1;SIK3,intron_variant,,ENST00000434315,NM_001281748.1;SIK3,intron_variant,,ENST00000542607,;APOA1-AS,downstream_gene_variant,,ENST00000444200,;SIK3,intron_variant,,ENST00000488337,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;SIK3,intron_variant,,ENST00000415541,;SIK3,intron_variant,,ENST00000465421,;							LOW	2562/3792		SIK3_HUMAN			Transcript			.	ENSP00000292055		CCDS8379.1			1	
CIC	0	LGGM	GRCh37	19	42791783	42791783	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000575354.2:c.669C>A	p.Pro223=	p.P223=	ENST00000575354	NM_015125.3	223	ccC/ccA	0	1	1	UPI000013C5A0	0		ENST00000575354		ENSG00000079432	14214		14			HGNC	p.P1132P		CIC		SNV							ENST00000572681	protein_coding			PROSITE_profiles:PS50118,hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095		P		A		709/5473							YES	CIC,synonymous_variant,p.=,ENST00000572681,;CIC,synonymous_variant,p.=,ENST00000160740,;CIC,synonymous_variant,p.=,ENST00000575354,NM_015125.3;CIC,downstream_gene_variant,,ENST00000575839,;							LOW	669/4827		CIC_HUMAN			Transcript			.	ENSP00000458663		CCDS12601.1			1	
ACCS	0	LGGM	GRCh37	11	44104757	44104757	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	4	.	.	ENST00000263776.8:c.1150C>A	p.Arg384=	p.R384=	ENST00000263776	NM_032592.3	384	Cgg/Agg	0	1	1	UPI000006D45A	0		ENST00000263776		ENSG00000110455	23989		56			HGNC	p.R384R		ACCS		SNV							ENST00000263776	protein_coding			Gene3D:3.90.1150.10,Pfam_domain:PF00155,hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF276,Superfamily_domains:SSF53383		R		A		1584/2362				E9PS61_HUMAN,E9PRT9_HUMAN			YES	ACCS,synonymous_variant,p.=,ENST00000263776,NM_032592.3,NM_001127219.1;ACCS,non_coding_transcript_exon_variant,,ENST00000527346,;ACCS,non_coding_transcript_exon_variant,,ENST00000531505,;ACCS,non_coding_transcript_exon_variant,,ENST00000531190,;ACCS,non_coding_transcript_exon_variant,,ENST00000534035,;ACCS,downstream_gene_variant,,ENST00000531940,;ACCS,downstream_gene_variant,,ENST00000532122,;ACCS,downstream_gene_variant,,ENST00000527557,;							LOW	1150/1506		1A1L1_HUMAN			Transcript			.	ENSP00000263776		CCDS7907.1			1	
SEC31A	0	LGGM	GRCh37	4	83765642	83765642	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000395310.2:c.2523G>T	p.Pro841=	p.P841=	ENST00000395310	NM_001077207.2	841	ccG/ccT	0	1		UPI000003E7E1	0		ENST00000355196		ENSG00000138674	17052		38			HGNC	p.P841P		SEC31A		SNV							ENST00000311785	protein_coding			hmmpanther:PTHR13923:SF23,hmmpanther:PTHR13923		P		A		2901/4104				U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN				SEC31A,synonymous_variant,p.=,ENST00000432794,;SEC31A,synonymous_variant,p.=,ENST00000395310,NM_001077207.2,NM_014933.3,NM_001077208.2;SEC31A,synonymous_variant,p.=,ENST00000448323,;SEC31A,synonymous_variant,p.=,ENST00000505472,;SEC31A,synonymous_variant,p.=,ENST00000326950,NM_016211.3;SEC31A,synonymous_variant,p.=,ENST00000355196,;SEC31A,synonymous_variant,p.=,ENST00000443462,NM_001191049.1;SEC31A,synonymous_variant,p.=,ENST00000348405,;SEC31A,synonymous_variant,p.=,ENST00000311785,NM_001077206.2;SEC31A,synonymous_variant,p.=,ENST00000509142,;SEC31A,synonymous_variant,p.=,ENST00000508502,;SEC31A,synonymous_variant,p.=,ENST00000513858,;SEC31A,synonymous_variant,p.=,ENST00000500777,;SEC31A,synonymous_variant,p.=,ENST00000505984,;SEC31A,synonymous_variant,p.=,ENST00000264405,;SEC31A,synonymous_variant,p.=,ENST00000508479,;SEC31A,synonymous_variant,p.=,ENST00000511338,;SEC31A,upstream_gene_variant,,ENST00000503937,;SEC31A,downstream_gene_variant,,ENST00000507828,;SEC31A,upstream_gene_variant,,ENST00000515749,;							LOW	2523/3663		SC31A_HUMAN			Transcript			.	ENSP00000347329		CCDS3596.1			1	
RRP12	0	LGGM	GRCh37	10	99160977	99160977	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000370992.4:c.12G>T	p.Ser4=	p.S4=	ENST00000370992	NM_015179.3	4	tcG/tcT	0	1	1	UPI000013E51C	0		ENST00000370992		ENSG00000052749	29100		30			HGNC	p.S4S		RRP12		SNV							ENST00000370992	protein_coding					S		A		124/4399							YES	RRP12,synonymous_variant,p.=,ENST00000370992,NM_015179.3;RRP12,synonymous_variant,p.=,ENST00000414986,NM_001145114.1;RRP12,synonymous_variant,p.=,ENST00000315563,NM_001284337.1;RP11-452K12.7,non_coding_transcript_exon_variant,,ENST00000422848,;							LOW	Dec-94		RRP12_HUMAN			Transcript			.	ENSP00000360031		CCDS7457.1			1	
CUL9	0	LGGM	GRCh37	6	43172200	43172200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	4	.	.	ENST00000252050.4:c.4262G>T	p.Arg1421Leu	p.R1421L	ENST00000252050	NM_015089.2	1421	cGa/cTa	0	1	1	UPI000006F22F	0	NA	ENST00000252050		ENSG00000112659	15982		50	1.7		HGNC	p.R1421L		CUL9		SNV							ENST00000372647	protein_coding	getma.org/?cm=var&var=hg19,6,43172200,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22771:SF2,hmmpanther:PTHR22771,Pfam_domain:PF00888		R/L		T	low	4346/7780		getma.org/?cm=msa&ty=f&p=CUL9_HUMAN&rb=1305&re=1838&var=R1421L	deleterious(0)				YES	CUL9,missense_variant,p.Arg1421Leu,ENST00000252050,NM_015089.2;CUL9,missense_variant,p.Arg1421Leu,ENST00000372647,;CUL9,missense_variant,p.Arg1311Leu,ENST00000354495,;CUL9,upstream_gene_variant,,ENST00000502937,;CUL9,non_coding_transcript_exon_variant,,ENST00000515773,;CUL9,non_coding_transcript_exon_variant,,ENST00000512408,;CUL9,upstream_gene_variant,,ENST00000502719,;CUL9,upstream_gene_variant,,ENST00000504485,;CUL9,downstream_gene_variant,,ENST00000515344,;CUL9,upstream_gene_variant,,ENST00000505172,;							MODERATE	4262/7554	R1421L	CUL9_HUMAN			Transcript		possibly_damaging(0.813)	.	ENSP00000252050		CCDS4890.1			1	
P4HB	0	LGGM	GRCh37	17	79817154	79817154	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000331483.4:c.255G>T	p.Thr85=	p.T85=	ENST00000331483	NM_000918.3	85	acG/acT	0	1	1	UPI0000000CAA	0		ENST00000331483		ENSG00000185624	8548	8.65E-05	45			HGNC	p.T85T	rs200706040	P4HB		SNV			1				ENST00000331483	protein_coding		G:0.0008	PROSITE_profiles:PS51352,hmmpanther:PTHR18929:SF48,hmmpanther:PTHR18929,Gene3D:3.40.30.10,Pfam_domain:PF00085,TIGRFAM_domain:TIGR01130,TIGRFAM_domain:TIGR01126,Superfamily_domains:SSF52833		T		A		478/2603				B3KTQ9_HUMAN	G:0	G:0	YES	P4HB,synonymous_variant,p.=,ENST00000331483,NM_000918.3;P4HB,synonymous_variant,p.=,ENST00000439918,;P4HB,synonymous_variant,p.=,ENST00000576541,;P4HB,synonymous_variant,p.=,ENST00000574914,;P4HB,synonymous_variant,p.=,ENST00000576052,;P4HB,5_prime_UTR_variant,,ENST00000576380,;P4HB,intron_variant,,ENST00000573778,;P4HB,intron_variant,,ENST00000571617,;P4HB,intron_variant,,ENST00000576390,;P4HB,upstream_gene_variant,,ENST00000570907,;P4HB,non_coding_transcript_exon_variant,,ENST00000467086,;P4HB,non_coding_transcript_exon_variant,,ENST00000471535,;P4HB,upstream_gene_variant,,ENST00000472244,;P4HB,3_prime_UTR_variant,,ENST00000575069,;P4HB,non_coding_transcript_exon_variant,,ENST00000574007,;P4HB,non_coding_transcript_exon_variant,,ENST00000466567,;P4HB,upstream_gene_variant,,ENST00000477607,;P4HB,upstream_gene_variant,,ENST00000478034,;		G:0.0002					LOW	255/1527		PDIA1_HUMAN		G:0	Transcript			.	ENSP00000327801	8.24E-06	CCDS11787.1		G:0	1	
PLXNA2	0	LGGM	GRCh37	1	208272224	208272224	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000367033.3:c.1698C>A	p.Pro566=	p.P566=	ENST00000367033	NM_025179.3	566	ccC/ccA	0	1	1	UPI000022B239	0		ENST00000367033		ENSG00000076356	9100		14			HGNC	p.P566P		PLXNA2		SNV							ENST00000367033	protein_coding			hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625		P		T		2456/11444							YES	PLXNA2,synonymous_variant,p.=,ENST00000367033,NM_025179.3;							LOW	1698/5685		PLXA2_HUMAN			Transcript			.	ENSP00000356000		CCDS31013.1			1	
BCAS3	0	LGGM	GRCh37	17	58945948	58945948	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000390652.5:c.488C>A	p.Pro163Gln	p.P163Q	ENST00000390652	NM_001099432.1	163	cCg/cAg	0	1	1	UPI00001AE949	0	NA	ENST00000390652		ENSG00000141376	14347		43	0.715		HGNC	p.P163Q		BCAS3		SNV							ENST00000408905	protein_coding	getma.org/?cm=var&var=hg19,17,58945948,C,A&fts=all		hmmpanther:PTHR13268,Superfamily_domains:SSF50978		P/Q		A	neutral	519/3531		getma.org/?cm=msa&ty=f&p=BCAS3_HUMAN&rb=1&re=200&var=P163Q	tolerated(0.83)	K7ESE9_HUMAN,K7EML5_HUMAN,K7EKB0_HUMAN,K7EJU7_HUMAN,K7EJH7_HUMAN			YES	BCAS3,missense_variant,p.Pro163Gln,ENST00000589222,;BCAS3,missense_variant,p.Pro163Gln,ENST00000588462,;BCAS3,missense_variant,p.Pro163Gln,ENST00000390652,NM_001099432.1;BCAS3,missense_variant,p.Pro163Gln,ENST00000408905,;BCAS3,missense_variant,p.Pro163Gln,ENST00000407086,NM_017679.3;BCAS3,3_prime_UTR_variant,,ENST00000592848,;BCAS3,3_prime_UTR_variant,,ENST00000586241,;							MODERATE	488/2787	P163Q	BCAS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000375067		CCDS45749.1			1	
SLC46A1	0	LGGM	GRCh37	17	26731993	26731993	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000440501.1:c.722G>T	p.Arg241Leu	p.R241L	ENST00000440501	NM_080669.4	241	cGg/cTg	0	1	1	UPI0000050394	0		ENST00000440501		ENSG00000076351	30521		40			HGNC	p.R241L		SLC46A1		SNV			1				ENST00000321666	protein_coding			PROSITE_profiles:PS50850,hmmpanther:PTHR23038,hmmpanther:PTHR23038:SF43,Pfam_domain:PF07690,Superfamily_domains:SSF103473		R/L		A		818/6487			deleterious(0.01)	K7EPJ7_HUMAN,J3QRF7_HUMAN,J3KTE6_HUMAN			YES	SLC46A1,missense_variant,p.Arg241Leu,ENST00000440501,NM_080669.4;SLC46A1,missense_variant,p.Arg241Leu,ENST00000321666,NM_001242366.1;SLC46A1,missense_variant,p.Arg167Leu,ENST00000584995,;SARM1,downstream_gene_variant,,ENST00000457710,NM_015077.3;SLC46A1,downstream_gene_variant,,ENST00000581516,;SLC46A1,upstream_gene_variant,,ENST00000582735,;SLC46A1,downstream_gene_variant,,ENST00000584426,;CTD-2350C19.1,downstream_gene_variant,,ENST00000583956,;CTD-2350C19.2,upstream_gene_variant,,ENST00000580714,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000584729,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000583295,;SLC46A1,intron_variant,,ENST00000578217,;SLC46A1,non_coding_transcript_exon_variant,,ENST00000582590,;SLC46A1,upstream_gene_variant,,ENST00000582345,;							MODERATE	722/1380		PCFT_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000395653					1	
RIGI	0	LGGM	GRCh37	9	32457126	32457126	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000379883.2:c.2772C>A	p.Ser924=	p.S924=	ENST00000379883	NM_014314.3	924	tcC/tcA	0	1	1	UPI000013C841	0		ENST00000379883		ENSG00000107201	19102		31			HGNC	p.S924S		DDX58		SNV			1				ENST00000379883	protein_coding			hmmpanther:PTHR14074,hmmpanther:PTHR14074:SF16,Pfam_domain:PF11648		S		T		2930/4353				A2A376_HUMAN			YES	DDX58,synonymous_variant,p.=,ENST00000379882,;DDX58,synonymous_variant,p.=,ENST00000379883,NM_014314.3;DDX58,synonymous_variant,p.=,ENST00000379868,;DDX58,synonymous_variant,p.=,ENST00000542096,;ACO1,downstream_gene_variant,,ENST00000309951,NM_002197.2;							LOW	2772/2778		DDX58_HUMAN			Transcript			.	ENSP00000369213		CCDS6526.1			1	
DPP10	0	LGGM	GRCh37	2	116497442	116497442	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000393147.2:c.837C>A	p.Pro279=	p.P279=	ENST00000393147	NM_001178034.1	279	ccC/ccA	0	1		UPI00001AEF55	0		ENST00000410059		ENSG00000175497	20823		46			HGNC	p.P275P	rs765196432	DPP10	6.06E-05	SNV			1				ENST00000410059	protein_coding			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171		P		A		1305/6278				Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN				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,;							LOW	825/2391		DPP10_HUMAN			Transcript			.	ENSP00000386565	8.24E-06	CCDS46400.1			1	
GABPB2	0	LGGM	GRCh37	1	151062944	151062944	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000368918.3:c.171C>A	p.Leu57=	p.L57=	ENST00000368918	NM_144618.2	57	ctC/ctA	0	1	1	UPI000004C094	0		ENST00000368918		ENSG00000143458	28441		35			HGNC	p.L57L		GABPB2		SNV							ENST00000368918	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF13606,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24193,hmmpanther:PTHR24193:SF72,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		A		502/8964							YES	GABPB2,synonymous_variant,p.=,ENST00000368918,NM_144618.2;GABPB2,synonymous_variant,p.=,ENST00000368917,;GABPB2,synonymous_variant,p.=,ENST00000368916,;GABPB2,non_coding_transcript_exon_variant,,ENST00000462520,;GABPB2,non_coding_transcript_exon_variant,,ENST00000486076,;GABPB2,intron_variant,,ENST00000489549,;GABPB2,upstream_gene_variant,,ENST00000467551,;							LOW	171/1347		GABP2_HUMAN			Transcript			.	ENSP00000357914		CCDS983.1			1	
CCDC69	0	LGGM	GRCh37	5	150563933	150563933	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000355417.2:c.685C>A	p.Arg229=	p.R229=	ENST00000355417	NM_015621.2	229	Cga/Aga	0	1	1	UPI000020CFF2	0		ENST00000355417		ENSG00000198624	24487		28			HGNC	p.R229R		CCDC69		SNV							ENST00000355417	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF6		R		T		860/3451							YES	CCDC69,synonymous_variant,p.=,ENST00000355417,NM_015621.2;CCDC69,non_coding_transcript_exon_variant,,ENST00000521308,;CCDC69,3_prime_UTR_variant,,ENST00000518189,;CCDC69,non_coding_transcript_exon_variant,,ENST00000519448,;CCDC69,downstream_gene_variant,,ENST00000522964,;							LOW	685/891		CCD69_HUMAN			Transcript			.	ENSP00000347586		CCDS4312.1			1	
CDC42BPB	0	LGGM	GRCh37	14	103416829	103416829	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000361246.2:c.3283G>T	p.Gly1095Ter	p.G1095*	ENST00000361246	NM_006035.3	1095	Gga/Tga	0	1	1	UPI000013D27E	0	NA	ENST00000361246		ENSG00000198752	1738		38	0		HGNC	p.G1095X		CDC42BPB		SNV							ENST00000361246	protein_coding	getma.org/?cm=var&var=hg19,14,103416829,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30		G/*		A	NA	3572/6758		NA					YES	CDC42BPB,stop_gained,p.Gly1095Ter,ENST00000361246,NM_006035.3;CDC42BPB,stop_gained,p.Gly343Ter,ENST00000559043,;CDC42BPB,upstream_gene_variant,,ENST00000559245,;							HIGH	3283/5136	G1095*	MRCKB_HUMAN			Transcript			.	ENSP00000355237		CCDS9978.1			1	
CDH7	0	LGGM	GRCh37	18	63489481	63489481	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000397968.2:c.790C>A	p.Arg264=	p.R264=	ENST00000397968	NM_004361.2	264	Cga/Aga	0	1		UPI000013D269	0		ENST00000323011		ENSG00000081138	1766		41			HGNC	p.R264R		CDH7		SNV							ENST00000536984	protein_coding			Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,Superfamily_domains:SSF49313		R		A		1115/2728								CDH7,synonymous_variant,p.=,ENST00000536984,;CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;							LOW	790/2358		CADH7_HUMAN			Transcript			.	ENSP00000319166		CCDS11993.1			1	
ACADSB	0	LGGM	GRCh37	10	124803930	124803930	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000358776.4:c.829G>T	p.Gly277Ter	p.G277*	ENST00000358776	NM_001609.3	277	Gga/Tga	0	1	1	UPI00001251DF	0	NA	ENST00000358776		ENSG00000196177	91		49	0		HGNC	p.G277X		ACADSB		SNV			1				ENST00000358776	protein_coding	getma.org/?cm=var&var=hg19,10,124803930,G,T&fts=all		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF212,Gene3D:1.20.140.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645		G/*		T	NA	843/5859		NA		B4DQ51_HUMAN			YES	ACADSB,stop_gained,p.Gly277Ter,ENST00000358776,NM_001609.3;ACADSB,stop_gained,p.Gly175Ter,ENST00000368869,;ACADSB,downstream_gene_variant,,ENST00000411816,;ACADSB,non_coding_transcript_exon_variant,,ENST00000496730,;							HIGH	829/1299	G277*	ACDSB_HUMAN			Transcript			.	ENSP00000357873		CCDS7634.1			1	
BNIPL	0	LGGM	GRCh37	1	151019156	151019156	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000368931.3:c.1067G>T	p.Gly356Val	p.G356V	ENST00000368931	NM_138278.3	356	gGg/gTg	0	1	1	UPI00001B94EF	0	NA	ENST00000368931		ENSG00000163141	16976		37	1.04		HGNC	p.G274V		BNIPL		SNV							ENST00000295294	protein_coding	getma.org/?cm=var&var=hg19,1,151019156,G,T&fts=all		hmmpanther:PTHR12112,hmmpanther:PTHR12112:SF13		G/V		T	low	1223/2143		getma.org/?cm=msa&ty=f&p=BNIPL_HUMAN&rb=321&re=357&var=G356V	deleterious_low_confidence(0.01)	F8W685_HUMAN			YES	BNIPL,missense_variant,p.Gly274Val,ENST00000295294,NM_001159642.1;BNIPL,missense_variant,p.Gly356Val,ENST00000368931,NM_138278.3;BNIPL,missense_variant,p.Gly340Val,ENST00000361277,;CDC42SE1,downstream_gene_variant,,ENST00000439374,;CDC42SE1,downstream_gene_variant,,ENST00000540998,NM_001038707.1;CDC42SE1,downstream_gene_variant,,ENST00000357235,NM_020239.3;C1orf56,upstream_gene_variant,,ENST00000368926,NM_017860.3;BNIPL,downstream_gene_variant,,ENST00000392802,;C1orf56,upstream_gene_variant,,ENST00000465135,;BNIPL,downstream_gene_variant,,ENST00000491386,;C1orf56,upstream_gene_variant,,ENST00000473308,;BNIPL,3_prime_UTR_variant,,ENST00000485855,;							MODERATE	1067/1074	G356V	BNIPL_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000357927		CCDS978.2			1	
SHROOM3	0	LGGM	GRCh37	4	77691998	77691998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000296043.6:c.5569C>A	p.Arg1857Ser	p.R1857S	ENST00000296043	NM_020859.3	1857	Cgt/Agt	0	1	1	UPI0000E5AC1C	0	getma.org/pdb.php?prot=SHRM3_HUMAN&from=1669&to=1956&var=R1857S	ENST00000296043		ENSG00000138771	30422		42	2.74		HGNC	p.R1857S		SHROOM3		SNV			1				ENST00000296043	protein_coding	getma.org/?cm=var&var=hg19,4,77691998,C,A&fts=all		PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012,Pfam_domain:PF08687		R/S		A	medium	6522/11020		getma.org/?cm=msa&ty=f&p=SHRM3_HUMAN&rb=1669&re=1956&var=R1857S	deleterious(0)				YES	SHROOM3,missense_variant,p.Arg1857Ser,ENST00000296043,NM_020859.3;RP11-359D14.3,intron_variant,,ENST00000449007,;							MODERATE	5569/5991	R1857S	SHRM3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000296043		CCDS3579.2			1	
AFMID	0	LGGM	GRCh37	17	76201806	76201806	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000327898.5:c.767G>T	p.Trp256Leu	p.W256L	ENST00000327898		256	tGg/tTg	0	1		UPI00001D7967	0	getma.org/pdb.php?prot=AFMID_HUMAN&from=91&to=283&var=W256L	ENST00000409257		ENSG00000183077	20910		15	-0.49		HGNC	p.W256L	COSM236343	AFMID		SNV						1	ENST00000409257	protein_coding	getma.org/?cm=var&var=hg19,17,76201806,G,T&fts=all		HAMAP:MF_03014,hmmpanther:PTHR23024:SF118,hmmpanther:PTHR23024,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474		W/L		T	neutral	821/1730		getma.org/?cm=msa&ty=f&p=AFMID_HUMAN&rb=91&re=283&var=W256L	tolerated(0.37)					AFMID,missense_variant,p.Trp256Leu,ENST00000409257,NM_001010982.4,NM_001145526.2;AFMID,missense_variant,p.Trp256Leu,ENST00000327898,;AFMID,intron_variant,,ENST00000588800,;AFMID,intron_variant,,ENST00000591952,;AFMID,downstream_gene_variant,,ENST00000591256,;AFMID,downstream_gene_variant,,ENST00000586542,;AFMID,non_coding_transcript_exon_variant,,ENST00000585419,;AFMID,intron_variant,,ENST00000589664,;AFMID,intron_variant,,ENST00000587750,;AFMID,downstream_gene_variant,,ENST00000591538,;AFMID,intron_variant,,ENST00000588199,;AFMID,downstream_gene_variant,,ENST00000592988,;AFMID,downstream_gene_variant,,ENST00000589107,;					1		MODERATE	767/912	W256L	KFA_HUMAN			Transcript		benign(0.004)	.	ENSP00000386890		CCDS32750.2			1	
DIP2C	0	LGGM	GRCh37	10	394633	394633	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000280886.6:c.3179C>A	p.Pro1060Gln	p.P1060Q	ENST00000280886	NM_014974.2	1060	cCg/cAg	0	1	1	UPI00001833B9	0	getma.org/pdb.php?prot=DIP2C_HUMAN&from=1003&to=1475&var=P1060Q	ENST00000280886		ENSG00000151240	29150		48	2.61		HGNC	p.P1060Q		DIP2C		SNV							ENST00000280886	protein_coding	getma.org/?cm=var&var=hg19,10,394633,G,T&fts=all		hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF25,Gene3D:3.40.50.980,Pfam_domain:PF00501,Superfamily_domains:SSF56801		P/Q		T	medium	3267/7894		getma.org/?cm=msa&ty=f&p=DIP2C_HUMAN&rb=1003&re=1475&var=P1060Q	deleterious(0)				YES	DIP2C,missense_variant,p.Pro1060Gln,ENST00000280886,NM_014974.2;							MODERATE	3179/4671	P1060Q	DIP2C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000280886		CCDS7054.1			1	
SLC30A2	0	LGGM	GRCh37	1	26369178	26369178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	4	.	.	ENST00000374276.3:c.594G>T	p.Gln198His	p.Q198H	ENST00000374276	NM_001004434.1	198	caG/caT	0	1		UPI000006F75E	0	NA	ENST00000374278		ENSG00000158014	11013		13	1.42		HGNC	p.Q149H		SLC30A2		SNV			1				ENST00000374278	protein_coding	getma.org/?cm=var&var=hg19,1,26369178,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11562:SF30,hmmpanther:PTHR11562,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Superfamily_domains:0054606		Q/H		A	low	664/3097		getma.org/?cm=msa&ty=f&p=ZNT2_HUMAN&rb=84&re=312&var=Q149H	tolerated(0.07)					SLC30A2,missense_variant,p.Gln149His,ENST00000374278,NM_032513.3;SLC30A2,missense_variant,p.Gln198His,ENST00000374276,NM_001004434.1;SLC30A2,downstream_gene_variant,,ENST00000498060,;							MODERATE	447/972	Q149H	ZNT2_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000363396		CCDS272.1			1	
FES	0	LGGM	GRCh37	15	91436954	91436954	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000328850.3:c.2116C>A	p.Arg706=	p.R706=	ENST00000328850	NM_002005.3	706	Cga/Aga	0	1	1	UPI0000001C30	0		ENST00000328850		ENSG00000182511	3657		22			HGNC	p.R636R		FES		SNV							ENST00000444422	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF197,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF56112		R		A		2258/2829				Q4JFK7_HUMAN,H0YNN8_HUMAN,E9PGC7_HUMAN,E7EMJ7_HUMAN,C9J3W6_HUMAN			YES	FES,synonymous_variant,p.=,ENST00000328850,NM_002005.3;FES,synonymous_variant,p.=,ENST00000414248,NM_001143785.1;FES,synonymous_variant,p.=,ENST00000394300,NM_001143783.1;FES,synonymous_variant,p.=,ENST00000444422,NM_001143784.1;FES,synonymous_variant,p.=,ENST00000394302,;FES,synonymous_variant,p.=,ENST00000450438,;FES,downstream_gene_variant,,ENST00000448367,;FES,3_prime_UTR_variant,,ENST00000464684,;FES,downstream_gene_variant,,ENST00000470152,;FES,downstream_gene_variant,,ENST00000496379,;FES,downstream_gene_variant,,ENST00000497945,;FES,downstream_gene_variant,,ENST00000494259,;FES,downstream_gene_variant,,ENST00000462476,;							LOW	2116/2469		FES_HUMAN			Transcript			.	ENSP00000331504		CCDS10365.1			1	
IFFO1	0	LGGM	GRCh37	12	6660110	6660110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000356896.4:c.831G>T	p.Gln277His	p.Q277H	ENST00000356896	NM_001039670.2	277	caG/caT	0	1		UPI000013CD8F	0	NA	ENST00000396840		ENSG00000010295	24970		31	1.445		HGNC	p.Q277H		IFFO1		SNV							ENST00000336604	protein_coding	getma.org/?cm=var&var=hg19,12,6660110,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14516,hmmpanther:PTHR14516:SF2,Low_complexity_(Seg):seg		Q/H		A	low	873/2677		getma.org/?cm=msa&ty=f&p=IFFO1_HUMAN&rb=227&re=308&var=Q277H	deleterious(0.04)	Q9Y4M3_HUMAN				IFFO1,missense_variant,p.Gln277His,ENST00000336604,NM_080730.4;IFFO1,missense_variant,p.Gln277His,ENST00000356896,NM_001039670.2,NM_001193457.1;IFFO1,missense_variant,p.Gln277His,ENST00000396840,;IFFO1,5_prime_UTR_variant,,ENST00000436152,;IFFO1,5_prime_UTR_variant,,ENST00000465801,;IFFO1,3_prime_UTR_variant,,ENST00000487279,;IFFO1,non_coding_transcript_exon_variant,,ENST00000488007,;IFFO1,upstream_gene_variant,,ENST00000471408,;IFFO1,upstream_gene_variant,,ENST00000472558,;IFFO1,upstream_gene_variant,,ENST00000396830,;							MODERATE	831/1680	Q277H	IFFO1_HUMAN			Transcript		benign(0.013)	.	ENSP00000380052					1	
ABHD12B	0	LGGM	GRCh37	14	51352536	51352536	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000337334.2:c.585C>A	p.Ala195=	p.A195=	ENST00000337334	NM_001206673.1	195	gcC/gcA	0	1	1	UPI00001ADDF5	0		ENST00000337334		ENSG00000131969	19837		35			HGNC	p.A118A		ABHD12B		SNV							ENST00000353130	protein_coding			hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF32,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		A		A		600/1708							YES	ABHD12B,synonymous_variant,p.=,ENST00000337334,NM_001206673.1;ABHD12B,synonymous_variant,p.=,ENST00000395752,;ABHD12B,synonymous_variant,p.=,ENST00000353130,NM_181814.1;PYGL,intron_variant,,ENST00000532462,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000554241,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000555292,;ABHD12B,3_prime_UTR_variant,,ENST00000382029,;ABHD12B,intron_variant,,ENST00000557345,;							LOW	585/1089		AB12B_HUMAN			Transcript			.	ENSP00000336693		CCDS55916.1			1	
LYN	0	LGGM	GRCh37	8	56866483	56866483	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000519728.1:c.730C>A	p.Arg244=	p.R244=	ENST00000519728	NM_002350.3	244	Cgg/Agg	0	1	1	UPI000013DACD	0		ENST00000519728		ENSG00000254087	6735		37			HGNC	p.R223R		LYN		SNV							ENST00000520220	protein_coding			hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Gene3D:3.30.200.20,Superfamily_domains:SSF56112,Superfamily_domains:SSF55550		R		A		1026/2297				E5RJ37_HUMAN,B4DQ79_HUMAN			YES	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,;							LOW	730/1539		LYN_HUMAN			Transcript			.	ENSP00000428924		CCDS6162.1			1	
KIAA0430	0	LGGM	GRCh37	16	15694362	15694362	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000396368.3:c.4736C>A	p.Pro1579His	p.P1579H	ENST00000396368	NM_001184998.1	1579	cCc/cAc	0	1	1	UPI00006881BC	0	NA	ENST00000396368		ENSG00000166783	29562		46	0.29		HGNC	p.P1576H		KIAA0430		SNV							ENST00000548025	protein_coding	getma.org/?cm=var&var=hg19,16,15694362,G,T&fts=all		hmmpanther:PTHR14379:SF3,hmmpanther:PTHR14379		P/H		T	neutral	4943/7743		getma.org/?cm=msa&ty=f&p=MARF1_HUMAN&rb=1401&re=1600&var=P1579H	tolerated(0.11)	F8VRS5_HUMAN			YES	KIAA0430,missense_variant,p.Pro1579His,ENST00000396368,NM_001184998.1,NM_014647.3,NM_001184999.1;KIAA0430,missense_variant,p.Pro1267His,ENST00000344181,;KIAA0430,missense_variant,p.Pro1414His,ENST00000540441,;KIAA0430,missense_variant,p.Pro1579His,ENST00000551742,;KIAA0430,missense_variant,p.Pro1576His,ENST00000548025,;KIAA0430,missense_variant,p.Pro1576His,ENST00000602337,;C16orf45,intron_variant,,ENST00000565857,;KIAA0430,downstream_gene_variant,,ENST00000547936,;KIAA0430,3_prime_UTR_variant,,ENST00000552553,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000552771,;KIAA0430,non_coding_transcript_exon_variant,,ENST00000549337,;KIAA0430,upstream_gene_variant,,ENST00000551878,;KIAA0430,upstream_gene_variant,,ENST00000551579,;							MODERATE	4736/5229	P1579H	MARF1_HUMAN			Transcript		benign(0.003)	.	ENSP00000379654		CCDS10562.2			1	
CCDC36	0	LGGM	GRCh37	3	49282235	49282235	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000438782.1:c.532+69C>A		*178*	ENST00000438782				0	1		UPI0000209CD2	0		ENST00000296449		ENSG00000173421	27945		45			HGNC	p.P184P		CCDC36		SNV							ENST00000366429	protein_coding							A		-/2613								CCDC36,synonymous_variant,p.=,ENST00000366429,;CCDC36,synonymous_variant,p.=,ENST00000451634,;CCDC36,intron_variant,,ENST00000438782,;CCDC36,intron_variant,,ENST00000296449,NM_178173.3;CCDC36,intron_variant,,ENST00000452691,NM_001135197.1;							MODIFIER	-/1785		CCD36_HUMAN			Transcript			.	ENSP00000296449		CCDS33755.2			1	
LUC7L3	0	LGGM	GRCh37	17	48823291	48823291	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000505658.1:c.904C>A	p.Arg302=	p.R302=	ENST00000505658		302	Cga/Aga	0	1		UPI00000736F2	0		ENST00000240304		ENSG00000108848	24309		36			HGNC	p.R226R		LUC7L3		SNV							ENST00000544170	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12375		R		A		1034/1972				U3KQT3_HUMAN,D6RHH0_HUMAN				LUC7L3,synonymous_variant,p.=,ENST00000505658,;LUC7L3,synonymous_variant,p.=,ENST00000393227,NM_016424.4;LUC7L3,synonymous_variant,p.=,ENST00000240304,NM_006107.3;LUC7L3,synonymous_variant,p.=,ENST00000544170,;LUC7L3,upstream_gene_variant,,ENST00000503728,;LUC7L3,downstream_gene_variant,,ENST00000505619,;LUC7L3,downstream_gene_variant,,ENST00000513025,;LUC7L3,upstream_gene_variant,,ENST00000511974,;LUC7L3,downstream_gene_variant,,ENST00000510984,;LUC7L3,upstream_gene_variant,,ENST00000513969,;LUC7L3,upstream_gene_variant,,ENST00000512549,;LUC7L3,synonymous_variant,p.=,ENST00000504065,;LUC7L3,synonymous_variant,p.=,ENST00000509487,;LUC7L3,3_prime_UTR_variant,,ENST00000508482,;LUC7L3,downstream_gene_variant,,ENST00000508045,;LUC7L3,downstream_gene_variant,,ENST00000504563,;LUC7L3,downstream_gene_variant,,ENST00000509335,;LUC7L3,downstream_gene_variant,,ENST00000507503,;LUC7L3,downstream_gene_variant,,ENST00000508218,;LUC7L3,downstream_gene_variant,,ENST00000507200,;LUC7L3,downstream_gene_variant,,ENST00000511068,;							LOW	904/1299		LC7L3_HUMAN			Transcript			.	ENSP00000240304		CCDS11573.1			1	
AOC3	0	LGGM	GRCh37	17	41003599	41003599	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000308423.2:c.239G>A	p.Gly80Glu	p.G80E	ENST00000308423	NM_003734.3	80	gGg/gAg	0	1	1	UPI00000009FC	0	getma.org/pdb.php?prot=AOC3_HUMAN&from=66&to=152&var=G80E	ENST00000308423		ENSG00000131471	550		42	0.47		HGNC	p.G80E		AOC3		SNV							ENST00000308423	protein_coding	getma.org/?cm=var&var=hg19,17,41003599,G,A&fts=all		Gene3D:3.10.450.40,Pfam_domain:PF02727,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF23,Superfamily_domains:SSF54416		G/E		A	neutral	399/4026		getma.org/?cm=msa&ty=f&p=AOC3_HUMAN&rb=66&re=152&var=G80E	tolerated(0.18)	Q9UEU7_HUMAN,K7ESB3_HUMAN,K7EQZ5_HUMAN,K7EL47_HUMAN			YES	AOC3,missense_variant,p.Gly80Glu,ENST00000308423,NM_003734.3;AOC2,downstream_gene_variant,,ENST00000253799,NM_009590.2;AOC2,downstream_gene_variant,,ENST00000452774,NM_001158.3;AOC3,upstream_gene_variant,,ENST00000591562,NM_001277732.1;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000587330,;							MODERATE	239/2292	G80E	AOC3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000312326		CCDS11444.1			1	
SIRT7	0	LGGM	GRCh37	17	79872539	79872539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000328666.6:c.520C>A	p.Leu174Met	p.L174M	ENST00000328666	NM_016538.2	174	Ctg/Atg	0	1	1	UPI0000072CE1	0	getma.org/pdb.php?prot=SIR7_HUMAN&from=90&to=331&var=L174M	ENST00000328666		ENSG00000187531	14935		15	3.5		HGNC	p.L25M		SIRT7		SNV							ENST00000572902	protein_coding	getma.org/?cm=var&var=hg19,17,79872539,G,T&fts=all		Gene3D:3.40.50.1220,Pfam_domain:PF02146,PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF1,Superfamily_domains:SSF52467		L/M		T	medium	583/1743		getma.org/?cm=msa&ty=f&p=SIR7_HUMAN&rb=90&re=331&var=L174M	deleterious(0.02)	I3L480_HUMAN			YES	SIRT7,missense_variant,p.Leu174Met,ENST00000328666,NM_016538.2;SIRT7,missense_variant,p.Leu25Met,ENST00000572902,;PCYT2,upstream_gene_variant,,ENST00000538936,NM_001256435.1,NM_002861.3;MAFG,downstream_gene_variant,,ENST00000357736,NM_002359.3,NM_032711.3;PCYT2,upstream_gene_variant,,ENST00000331285,;PCYT2,upstream_gene_variant,,ENST00000570391,NM_001282204.1;PCYT2,upstream_gene_variant,,ENST00000538721,NM_001184917.1,NM_001256434.1;PCYT2,upstream_gene_variant,,ENST00000571105,;PCYT2,upstream_gene_variant,,ENST00000570388,;PCYT2,upstream_gene_variant,,ENST00000576343,NM_001256433.1;PCYT2,upstream_gene_variant,,ENST00000573636,;PCYT2,upstream_gene_variant,,ENST00000573927,;PCYT2,upstream_gene_variant,,ENST00000572473,;PCYT2,upstream_gene_variant,,ENST00000572157,;SIRT7,3_prime_UTR_variant,,ENST00000575360,;SIRT7,non_coding_transcript_exon_variant,,ENST00000574992,;SIRT7,non_coding_transcript_exon_variant,,ENST00000572976,;SIRT7,non_coding_transcript_exon_variant,,ENST00000571832,;SIRT7,non_coding_transcript_exon_variant,,ENST00000536038,;SIRT7,non_coding_transcript_exon_variant,,ENST00000574495,;SIRT7,non_coding_transcript_exon_variant,,ENST00000577065,;SIRT7,non_coding_transcript_exon_variant,,ENST00000576156,;SIRT7,non_coding_transcript_exon_variant,,ENST00000572350,;SIRT7,non_coding_transcript_exon_variant,,ENST00000573367,;SIRT7,non_coding_transcript_exon_variant,,ENST00000571915,;SIRT7,non_coding_transcript_exon_variant,,ENST00000571233,;PCYT2,upstream_gene_variant,,ENST00000573401,;PCYT2,upstream_gene_variant,,ENST00000571581,;SIRT7,downstream_gene_variant,,ENST00000575244,;SIRT7,downstream_gene_variant,,ENST00000570367,;SIRT7,downstream_gene_variant,,ENST00000571213,;SIRT7,downstream_gene_variant,,ENST00000572671,;SIRT7,upstream_gene_variant,,ENST00000574153,;SIRT7,downstream_gene_variant,,ENST00000573576,;SIRT7,downstream_gene_variant,,ENST00000574915,;							MODERATE	520/1203	L174M	SIR7_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000329466		CCDS11792.1			1	
CXXC1	0	LGGM	GRCh37	18	47809644	47809644	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000412036.2:c.1674G>T	p.Arg558=	p.R558=	ENST00000412036		558	cgG/cgT	0	1		UPI0000037D2E	0		ENST00000285106		ENSG00000154832	24343		20			HGNC	p.G542V		CXXC1		SNV							ENST00000589940	protein_coding			hmmpanther:PTHR12321,hmmpanther:PTHR12321:SF33,Pfam_domain:PF12269		R		A		2377/2936				K7EJR0_HUMAN				CXXC1,missense_variant,p.Gly542Val,ENST00000589940,;CXXC1,synonymous_variant,p.=,ENST00000285106,NM_001101654.1,NM_014593.3;CXXC1,synonymous_variant,p.=,ENST00000412036,;MBD1,upstream_gene_variant,,ENST00000591416,;MBD1,upstream_gene_variant,,ENST00000269468,NM_015846.3;MBD1,upstream_gene_variant,,ENST00000347968,NM_015844.2;MBD1,upstream_gene_variant,,ENST00000436910,;MBD1,upstream_gene_variant,,ENST00000269471,NM_015845.3;MBD1,upstream_gene_variant,,ENST00000339998,NM_001204142.1;MBD1,upstream_gene_variant,,ENST00000349085,NM_002384.2;MBD1,upstream_gene_variant,,ENST00000590208,NM_001204136.1;MBD1,upstream_gene_variant,,ENST00000353909,NM_015847.3;MBD1,upstream_gene_variant,,ENST00000585672,NM_001204141.1;MBD1,upstream_gene_variant,,ENST00000457839,NM_001204137.1,NM_001204138.1;MBD1,upstream_gene_variant,,ENST00000382948,NM_001204139.1;MBD1,upstream_gene_variant,,ENST00000585595,;MBD1,upstream_gene_variant,,ENST00000424334,;MBD1,upstream_gene_variant,,ENST00000398495,NM_001204140.1;MBD1,upstream_gene_variant,,ENST00000587605,NM_001204143.1;MBD1,upstream_gene_variant,,ENST00000398493,;MBD1,upstream_gene_variant,,ENST00000588937,;MBD1,upstream_gene_variant,,ENST00000591535,NM_001204151.1;MBD1,upstream_gene_variant,,ENST00000398488,;CXXC1,downstream_gene_variant,,ENST00000589548,;CXXC1,downstream_gene_variant,,ENST00000591474,;CXXC1,downstream_gene_variant,,ENST00000586837,;CXXC1,downstream_gene_variant,,ENST00000587396,;CXXC1,non_coding_transcript_exon_variant,,ENST00000590901,;CXXC1,non_coding_transcript_exon_variant,,ENST00000586568,;CXXC1,non_coding_transcript_exon_variant,,ENST00000587342,;CXXC1,non_coding_transcript_exon_variant,,ENST00000586502,;CXXC1,non_coding_transcript_exon_variant,,ENST00000587170,;CXXC1,non_coding_transcript_exon_variant,,ENST00000586144,;CXXC1,downstream_gene_variant,,ENST00000591190,;MBD1,upstream_gene_variant,,ENST00000586118,;CXXC1,downstream_gene_variant,,ENST00000586365,;CXXC1,downstream_gene_variant,,ENST00000590234,;MBD1,upstream_gene_variant,,ENST00000590215,;CXXC1,downstream_gene_variant,,ENST00000592078,;MBD1,upstream_gene_variant,,ENST00000589867,;MBD1,upstream_gene_variant,,ENST00000589758,;							LOW	1662/1971		CXXC1_HUMAN			Transcript			.	ENSP00000285106		CCDS11945.1			1	
JAKMIP2	0	LGGM	GRCh37	5	147051337	147051337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000265272.5:c.33G>T	p.Lys11Asn	p.K11N	ENST00000265272	NM_014790.4	11	aaG/aaT	0	1	1	UPI000000D782	0	NA	ENST00000265272		ENSG00000176049	29067		32	2.16		HGNC	p.K11N		JAKMIP2		SNV							ENST00000265272	protein_coding	getma.org/?cm=var&var=hg19,5,147051337,C,A&fts=all		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF7		K/N		A	medium	501/6001		getma.org/?cm=msa&ty=f&p=JKIP2_HUMAN&rb=1&re=803&var=K11N	deleterious(0)				YES	JAKMIP2,missense_variant,p.Lys11Asn,ENST00000265272,NM_014790.4,NM_001270941.1;JAKMIP2,missense_variant,p.Lys11Asn,ENST00000507386,NM_001270934.1;JAKMIP2,intron_variant,,ENST00000333010,NM_001282282.1;							MODERATE	33/2433	K11N	JKIP2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000265272		CCDS4285.1			1	
ANKRD11	0	LGGM	GRCh37	16	89350234	89350234	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	4	.	.	ENST00000301030.4:c.2716C>A	p.Arg906=	p.R906=	ENST00000301030	NM_001256183.1	906	Cga/Aga	0	1	1	UPI00004569E1	0		ENST00000301030		ENSG00000167522	21316		50			HGNC	p.R906R		ANKRD11		SNV			1				ENST00000301030	protein_coding			hmmpanther:PTHR24145		R		T		3177/9301							YES	ANKRD11,synonymous_variant,p.=,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,synonymous_variant,p.=,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							LOW	2716/7992		ANR11_HUMAN			Transcript			.	ENSP00000301030		CCDS32513.1			1	
ZSCAN10	0	LGGM	GRCh37	16	3142285	3142285	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000252463.2:c.264C>A	p.Pro88=	p.P88=	ENST00000252463	NM_032805.1	88	ccC/ccA	0	1	1	UPI000006F1B0	0		ENST00000252463		ENSG00000130182	12997		17			HGNC	p.P88P		ZSCAN10		SNV							ENST00000252463	protein_coding			SMART_domains:SM00431		P		T		352/2467				I3L1J3_HUMAN,I3L0Q3_HUMAN			YES	ZSCAN10,synonymous_variant,p.=,ENST00000252463,NM_032805.1;ZSCAN10,synonymous_variant,p.=,ENST00000576985,;ZSCAN10,synonymous_variant,p.=,ENST00000576483,;ZSCAN10,5_prime_UTR_variant,,ENST00000575108,NM_001282415.1;ZSCAN10,intron_variant,,ENST00000538082,NM_001282416.1;ZSCAN10,intron_variant,,ENST00000572548,;ZSCAN10,intron_variant,,ENST00000572431,;ZSCAN10,downstream_gene_variant,,ENST00000573931,;ZSCAN10,non_coding_transcript_exon_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;							LOW	264/2178		ZSC10_HUMAN			Transcript			.	ENSP00000252463		CCDS10493.1			1	
C1orf74	0	LGGM	GRCh37	1	209956693	209956693	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000294811.1:c.287G>T	p.Ser96Ile	p.S96I	ENST00000294811	NM_152485.2	96	aGt/aTt	0	1	1	UPI0000073C4E	0	NA	ENST00000294811		ENSG00000162757	26319		23	1.39		HGNC	p.S96I		C1orf74		SNV							ENST00000294811	protein_coding	getma.org/?cm=var&var=hg19,1,209956693,C,A&fts=all		Pfam_domain:PF14953,hmmpanther:PTHR31366		S/I		A	low	544/1576		getma.org/?cm=msa&ty=f&p=CA074_HUMAN&rb=24&re=237&var=S96I	tolerated(0.08)				YES	C1orf74,missense_variant,p.Ser96Ile,ENST00000294811,NM_152485.2;IRF6,downstream_gene_variant,,ENST00000367021,NM_006147.3;TRAF3IP3,downstream_gene_variant,,ENST00000367024,;TRAF3IP3,downstream_gene_variant,,ENST00000367025,NM_025228.2;TRAF3IP3,downstream_gene_variant,,ENST00000367026,;TRAF3IP3,downstream_gene_variant,,ENST00000400959,;TRAF3IP3,downstream_gene_variant,,ENST00000010338,;TRAF3IP3,downstream_gene_variant,,ENST00000367023,NM_001287754.1;TRAF3IP3,downstream_gene_variant,,ENST00000477431,;RP3-434O14.8,downstream_gene_variant,,ENST00000430751,;TRAF3IP3,downstream_gene_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,downstream_gene_variant,,ENST00000480569,;TRAF3IP3,downstream_gene_variant,,ENST00000476050,;TRAF3IP3,downstream_gene_variant,,ENST00000460314,;TRAF3IP3,downstream_gene_variant,,ENST00000478359,;TRAF3IP3,downstream_gene_variant,,ENST00000471368,;							MODERATE	287/810	S96I	CA074_HUMAN			Transcript		benign(0.016)	.	ENSP00000294811		CCDS1491.1			1	
ROBO1	0	LGGM	GRCh37	3	79174656	79174656	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000464233.1:c.122G>T	p.Gly41Val	p.G41V	ENST00000464233	NM_002941.3	41	gGg/gTg	0	1	1	UPI00000713D9	0	NA	ENST00000464233		ENSG00000169855	10249		17	0		HGNC	p.G41V		ROBO1		SNV							ENST00000464233	protein_coding	getma.org/?cm=var&var=hg19,3,79174656,C,A&fts=all				G/V		A	neutral	236/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=1&re=67&var=G41V	tolerated_low_confidence(0.24)				YES	ROBO1,missense_variant,p.Gly41Val,ENST00000464233,NM_002941.3;							MODERATE	122/4956	G41V	ROBO1_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000420321		CCDS54611.1			1	
AL359195.1	0	LGGM	GRCh37	10	82012794	82012794	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000356374.4:c.312C>A	p.Ser104=	p.S104=	ENST00000356374		104	tcC/tcA	0	1	1	UPI00001C0F61	0		ENST00000356374		ENSG00000204038			42			Clone_based_ensembl_gene	p.S104S		AL359195.1		SNV							ENST00000356374	protein_coding			Low_complexity_(Seg):seg		S		A		3329/3930				Q6ZRL6_HUMAN			YES	AL359195.1,synonymous_variant,p.=,ENST00000356374,;							LOW	312/843					Transcript			.	ENSP00000348738					1	
DNAJC2	0	LGGM	GRCh37	7	102967037	102967037	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000379263.3:c.525G>T	p.Lys175Asn	p.K175N	ENST00000379263	NM_014377.1	175	aaG/aaT	0	1	1	UPI000020F858	0	NA	ENST00000379263		ENSG00000105821	13192		39	1.965		HGNC	p.K175N		DNAJC2		SNV							ENST00000249270	protein_coding	getma.org/?cm=var&var=hg19,7,102967037,C,A&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67		K/N		A	medium	776/2167		getma.org/?cm=msa&ty=f&p=DNJC2_HUMAN&rb=159&re=358&var=K175N	deleterious(0)	Q08AR5_HUMAN,C9IZ83_HUMAN			YES	DNAJC2,missense_variant,p.Lys175Asn,ENST00000379263,NM_014377.1;DNAJC2,missense_variant,p.Lys175Asn,ENST00000249270,NM_001129887.1;DNAJC2,missense_variant,p.Lys101Asn,ENST00000454277,;DNAJC2,missense_variant,p.Lys164Asn,ENST00000426036,;PMPCB,intron_variant,,ENST00000420236,;DNAJC2,3_prime_UTR_variant,,ENST00000379257,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,upstream_gene_variant,,ENST00000483637,;							MODERATE	525/1866	K175N	DNJC2_HUMAN			Transcript		possibly_damaging(0.616)	.	ENSP00000368565		CCDS43628.1			1	
CDH23	0	LGGM	GRCh37	10	73405621	73405621	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000224721.6:c.1189G>T	p.Gly397Trp	p.G397W	ENST00000224721	NM_022124.5	397	Ggg/Tgg	0	1		UPI0002B831D5	0	NA	ENST00000224721		ENSG00000107736	13733		17	3.495		HGNC	p.G395W		CDH23		SNV			1				ENST00000299366	protein_coding	getma.org/?cm=var&var=hg19,10,73405621,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/W		T	medium	1194/10085		getma.org/?cm=msa&ty=f&p=CAD23_HUMAN&rb=349&re=460&var=G392W	deleterious(0)					CDH23,missense_variant,p.Gly397Trp,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Gly203Trp,ENST00000466757,;CDH23,missense_variant,p.Gly437Trp,ENST00000299366,NM_001171931.1;CDH23,missense_variant,p.Gly392Trp,ENST00000398809,NM_052836.3;CDH23,missense_variant,p.Gly437Trp,ENST00000461841,;CDH23,missense_variant,p.Gly392Trp,ENST00000398842,;CDH23,upstream_gene_variant,,ENST00000442677,;CDH23,non_coding_transcript_exon_variant,,ENST00000470494,;							MODERATE	1189/10080	G392W				Transcript		probably_damaging(0.999)	.	ENSP00000224721					1	
BTG3	0	LGGM	GRCh37	21	18966481	18966481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000339775.6:c.821G>T	p.Trp274Leu	p.W274L	ENST00000339775	NM_001130914.1	274	tGg/tTg	0	1		UPI0000126B14	0	NA	ENST00000348354		ENSG00000154640	1132		37	1.04		HGNC	p.W274L		BTG3		SNV							ENST00000339775	protein_coding	getma.org/?cm=var&var=hg19,21,18966481,C,A&fts=all		hmmpanther:PTHR22978,hmmpanther:PTHR22978:SF24		W/L		A	low	946/1456		getma.org/?cm=msa&ty=f&p=BTG3_HUMAN&rb=119&re=252&var=W230L	tolerated(0.12)	Q9UHB2_HUMAN,Q6IAU3_HUMAN,C9JLA2_HUMAN				BTG3,missense_variant,p.Trp274Leu,ENST00000339775,NM_001130914.1;BTG3,missense_variant,p.Trp230Leu,ENST00000348354,NM_006806.4;CXADR,downstream_gene_variant,,ENST00000400169,NM_001207066.1;BTG3,downstream_gene_variant,,ENST00000496601,;BTG3,non_coding_transcript_exon_variant,,ENST00000471860,;							MODERATE	689/759	W230L	BTG3_HUMAN			Transcript		benign(0.069)	.	ENSP00000284879		CCDS13569.1			1	
TRIM67	0	LGGM	GRCh37	1	231344820	231344820	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	4	.	.	ENST00000366653.5:c.1947C>A	p.Gly649=	p.G649=	ENST00000366653		649	ggC/ggA	0	1	1	UPI0000418F23	0		ENST00000366653		ENSG00000119283	31859		50			HGNC	p.G649G		TRIM67		SNV							ENST00000366652	protein_coding			Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF289,hmmpanther:PTHR24103,PROSITE_profiles:PS50188		G		A		1947/3936							YES	TRIM67,synonymous_variant,p.=,ENST00000444294,NM_001004342.3;TRIM67,synonymous_variant,p.=,ENST00000366653,;TRIM67,synonymous_variant,p.=,ENST00000366652,;TRIM67,synonymous_variant,p.=,ENST00000449018,;							LOW	1947/2352		TRI67_HUMAN			Transcript			.	ENSP00000355613		CCDS44333.1			1	
CRTC2	0	LGGM	GRCh37	1	153920759	153920759	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000368633.1:c.1908C>A	p.Ala636=	p.A636=	ENST00000368633	NM_181715.2	636	gcC/gcA	0	1	1	UPI00001A9468	0		ENST00000368633		ENSG00000160741	27301		48			HGNC	p.A316A		CRTC2		SNV							ENST00000368630	protein_coding			hmmpanther:PTHR13589:SF6,hmmpanther:PTHR13589,Pfam_domain:PF12886		A		T		2036/2644				Q8WZ18_HUMAN,Q8N332_HUMAN			YES	CRTC2,synonymous_variant,p.=,ENST00000368633,NM_181715.2;CRTC2,synonymous_variant,p.=,ENST00000368630,;DENND4B,upstream_gene_variant,,ENST00000361217,NM_014856.2;DENND4B,upstream_gene_variant,,ENST00000368646,;DENND4B,upstream_gene_variant,,ENST00000472932,;CRTC2,3_prime_UTR_variant,,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,;							LOW	1908/2082		CRTC2_HUMAN			Transcript			.	ENSP00000357622		CCDS30875.1			1	
KCNA2	0	LGGM	GRCh37	1	111146774	111146774	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000485317.1:c.631G>T	p.Gly211Trp	p.G211W	ENST00000485317		211	Ggg/Tgg	0	1		UPI00001279A1	0	getma.org/pdb.php?prot=KCNA2_HUMAN&from=127&to=223&var=G211W	ENST00000316361		ENSG00000177301	6220		28	1.385		HGNC	p.G211W	rs149727427	KCNA2	6.06E-05	SNV	T:0		1				ENST00000440270	protein_coding	getma.org/?cm=var&var=hg19,1,111146774,C,A&fts=all		Gene3D:1.20.120.350,Prints_domain:PR01509,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23		G/W	T:0.0001	A	low	1252/2150		getma.org/?cm=msa&ty=f&p=KCNA2_HUMAN&rb=127&re=223&var=G211W	tolerated(0.17)					KCNA2,missense_variant,p.Gly211Trp,ENST00000485317,;KCNA2,missense_variant,p.Gly211Trp,ENST00000316361,NM_004974.3;KCNA2,missense_variant,p.Gly211Trp,ENST00000440270,;KCNA2,missense_variant,p.Gly211Trp,ENST00000369770,NM_001204269.1;KCNA2,intron_variant,,ENST00000525120,;							MODERATE	631/1500	G211W	KCNA2_HUMAN			Transcript		benign(0.049)	.	ENSP00000314520	8.24E-06	CCDS827.1			1	
OR2T34	0	LGGM	GRCh37	1	248737138	248737138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000328782.2:c.921G>T	p.Arg307Ser	p.R307S	ENST00000328782	NM_001001821.1	307	agG/agT	0	1	1	UPI0000061ED4	0	NA	ENST00000328782		ENSG00000183310	31256		26	1.23		HGNC	p.R307S		OR2T34		SNV							ENST00000328782	protein_coding	getma.org/?cm=var&var=hg19,1,248737138,C,A&fts=all		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R/S		A	low	943/1059		getma.org/?cm=msa&ty=f&p=O2T34_HUMAN&rb=289&re=318&var=R307S	tolerated(0.08)				YES	OR2T34,missense_variant,p.Arg307Ser,ENST00000328782,NM_001001821.1;							MODERATE	921/957	R307S	O2T34_HUMAN			Transcript		benign(0.013)	.	ENSP00000330904		CCDS31120.1			1	
CPSF2	0	LGGM	GRCh37	14	92624110	92624110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000298875.4:c.1703C>A	p.Pro568Gln	p.P568Q	ENST00000298875	NM_017437.2	568	cCa/cAa	0	1	1	UPI0000185F22	0	NA	ENST00000298875		ENSG00000165934	2325		42	0.69		HGNC	p.P568Q		CPSF2		SNV							ENST00000298875	protein_coding	getma.org/?cm=var&var=hg19,14,92624110,C,A&fts=all		Gene3D:3.60.15.10,Pfam_domain:PF07521,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,Superfamily_domains:SSF56281		P/Q		A	neutral	1988/5301		getma.org/?cm=msa&ty=f&p=CPSF2_HUMAN&rb=527&re=569&var=P568Q	tolerated(0.43)	G3V3T7_HUMAN,B3KN45_HUMAN			YES	CPSF2,missense_variant,p.Pro568Gln,ENST00000298875,NM_017437.2;CPSF2,missense_variant,p.Pro85Gln,ENST00000555244,;CPSF2,downstream_gene_variant,,ENST00000556622,;							MODERATE	1703/2349	P568Q	CPSF2_HUMAN			Transcript		benign(0.065)	.	ENSP00000298875		CCDS9902.1			1	
LAMA1	0	LGGM	GRCh37	18	6964738	6964738	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000389658.3:c.7260G>T	p.Pro2420=	p.P2420=	ENST00000389658	NM_005559.3	2420	ccG/ccT	0	1	1	UPI00001C1FF9	0		ENST00000389658		ENSG00000101680	6481		48			HGNC	p.P2420P		LAMA1		SNV			1				ENST00000389658	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		P		A		7354/9657				Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000490190,;LAMA1,upstream_gene_variant,,ENST00000488089,;LAMA1,downstream_gene_variant,,ENST00000484335,;							LOW	7260/9228		LAMA1_HUMAN			Transcript			.	ENSP00000374309		CCDS32787.1			1	
ADARB2	0	LGGM	GRCh37	10	1279749	1279749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000381312.1:c.1400G>T	p.Arg467Leu	p.R467L	ENST00000381312	NM_018702.3	467	cGg/cTg	0	1	1	UPI0000071776	0	getma.org/pdb.php?prot=RED2_HUMAN&from=408&to=731&var=R467L	ENST00000381312		ENSG00000185736	227		41	1.545		HGNC	p.R467L		ADARB2		SNV							ENST00000381312	protein_coding	getma.org/?cm=var&var=hg19,10,1279749,C,A&fts=all		PROSITE_profiles:PS50141,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF02137,SMART_domains:SM00552		R/L		A	low	1726/3606		getma.org/?cm=msa&ty=f&p=RED2_HUMAN&rb=408&re=731&var=R467L	tolerated(0.05)	Q5VW43_HUMAN			YES	ADARB2,missense_variant,p.Arg467Leu,ENST00000381312,NM_018702.3;ADARB2,non_coding_transcript_exon_variant,,ENST00000469464,;							MODERATE	1400/2220	R467L	RED2_HUMAN			Transcript		possibly_damaging(0.758)	.	ENSP00000370713		CCDS7058.1			1	
HDAC1	0	LGGM	GRCh37	1	32768308	32768308	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000373548.3:c.136G>T	p.Gly46Cys	p.G46C	ENST00000373548	NM_004964.2	46	Ggt/Tgt	0	1	1	UPI0000035528	0	getma.org/pdb.php?prot=HDAC1_HUMAN&from=17&to=320&var=G46C	ENST00000373548		ENSG00000116478	4852		36	5.085		HGNC	p.G46C		HDAC1		SNV							ENST00000373548	protein_coding	getma.org/?cm=var&var=hg19,1,32768308,G,T&fts=all		hmmpanther:PTHR10625:SF113,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768,Prints_domain:PR01271		G/C		T	high	220/2124		getma.org/?cm=msa&ty=f&p=HDAC1_HUMAN&rb=17&re=320&var=G46C	deleterious(0)	Q6IT96_HUMAN,F5GXM1_HUMAN			YES	HDAC1,missense_variant,p.Gly46Cys,ENST00000373548,NM_004964.2;HDAC1,missense_variant,p.Gly46Cys,ENST00000428704,;HDAC1,5_prime_UTR_variant,,ENST00000373541,;HDAC1,non_coding_transcript_exon_variant,,ENST00000463172,;HDAC1,non_coding_transcript_exon_variant,,ENST00000481281,;HDAC1,intron_variant,,ENST00000472928,;							MODERATE	136/1449	G46C	HDAC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362649		CCDS360.1			1	
AC005841.1	0	LGGM	GRCh37	12	2964249	2964249	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000382678.3:c.457G>T	p.Gly153Trp	p.G153W	ENST00000382678		153	Ggg/Tgg	0	1	1	UPI0000D62188	0		ENST00000382678		ENSG00000206044			20			Clone_based_ensembl_gene	p.G153W		AC005841.1		SNV							ENST00000382678	protein_coding			Pfam_domain:PF15046		G/W		A		457/939			deleterious(0)	I3L0B7_HUMAN			YES	AC005841.1,missense_variant,p.Gly153Trp,ENST00000382678,;FOXM1,downstream_gene_variant,,ENST00000342628,NM_202002.2;FOXM1,downstream_gene_variant,,ENST00000361953,NM_001243089.1,NM_001243088.1,NM_202003.2;FOXM1,downstream_gene_variant,,ENST00000359843,NM_021953.3;FOXM1,downstream_gene_variant,,ENST00000535350,;Y_RNA,upstream_gene_variant,,ENST00000410561,;ITFG2,intron_variant,,ENST00000537710,;ITFG2,upstream_gene_variant,,ENST00000545509,;ITFG2,upstream_gene_variant,,ENST00000540300,;FOXM1,downstream_gene_variant,,ENST00000536066,;							MODERATE	457/939		YL021_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000372125					1	
GBA1	0	LGGM	GRCh37	1	155204987	155204987	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000327247.5:c.1504C>A	p.Arg502Ser	p.R502S	ENST00000327247	NM_001005742.2	502	Cgc/Agc	0	1	1	UPI0000073DCE	0	getma.org/pdb.php?prot=GLCM_HUMAN&from=40&to=533&var=R502S	ENST00000327247	pathogenic,risk_factor	ENSG00000177628	4177		39	1.025		HGNC	p.R389S	rs80356771	GBA	6.06E-05	SNV			1			1	ENST00000536770	protein_coding	getma.org/?cm=var&var=hg19,1,155204987,G,T&fts=all		Superfamily_domains:SSF51011,Pfam_domain:PF02055,Gene3D:2.60.40.1180,hmmpanther:PTHR11069,hmmpanther:PTHR11069:SF9		R/S		T	low	1737/2387		getma.org/?cm=msa&ty=f&p=GLCM_HUMAN&rb=40&re=533&var=R502S	tolerated(0.08)	Q9UQU9_HUMAN,J3KQG4_HUMAN			YES	GBA,missense_variant,p.Arg502Ser,ENST00000327247,NM_001005742.2,NM_001005741.2;GBA,missense_variant,p.Arg502Ser,ENST00000368373,NM_000157.3;GBA,missense_variant,p.Arg453Ser,ENST00000427500,NM_001171812.1;GBA,missense_variant,p.Arg415Ser,ENST00000428024,NM_001171811.1;GBA,missense_variant,p.Arg389Ser,ENST00000536770,;AL713999.1,downstream_gene_variant,,ENST00000401290,;GBA,splice_region_variant,,ENST00000478472,;GBA,splice_region_variant,,ENST00000484489,;GBA,intron_variant,,ENST00000464536,;GBA,downstream_gene_variant,,ENST00000493842,;GBA,downstream_gene_variant,,ENST00000491081,;GBA,downstream_gene_variant,,ENST00000473570,;GBA,downstream_gene_variant,,ENST00000460156,;GBA,downstream_gene_variant,,ENST00000497670,;GBA,downstream_gene_variant,,ENST00000467918,;GBA,downstream_gene_variant,,ENST00000470104,;MTX1P1,downstream_gene_variant,,ENST00000440904,;							MODERATE	1504/1611	R502S	GLCM_HUMAN			Transcript		benign(0.025)	.	ENSP00000314508	8.24E-06	CCDS1102.1			1	249,046,481,972,019
CELSR1	0	LGGM	GRCh37	22	46761143	46761143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000262738.3:c.8539C>A	p.His2847Asn	p.H2847N	ENST00000262738	NM_014246.1	2847	Cac/Aac	0	1	1	UPI0000040648	0	NA	ENST00000262738		ENSG00000075275	1850		12	1.97		HGNC	p.H2847N		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46761143,G,T&fts=all		hmmpanther:PTHR24026		H/N		T	medium	8539/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=2698&re=2897&var=H2847N	deleterious(0.05)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.His2847Asn,ENST00000262738,NM_014246.1;CELSR1,non_coding_transcript_exon_variant,,ENST00000473624,;							MODERATE	8539/9045	H2847N	CELR1_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000262738		CCDS14076.1			1	
RNF40	0	LGGM	GRCh37	16	30774483	30774483	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000324685.6:c.177G>T	p.Leu59=	p.L59=	ENST00000324685	NM_014771.3	59	ctG/ctT	0	1	1	UPI000013D2CF	0		ENST00000324685		ENSG00000103549	16867		26			HGNC	p.L59L		RNF40		SNV							ENST00000566811	protein_coding			hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1		L		T		612/5634				I3L332_HUMAN,H3BUL6_HUMAN,H3BS50_HUMAN,H3BQ99_HUMAN,B4E313_HUMAN			YES	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.=,ENST00000402121,;RNF40,synonymous_variant,p.=,ENST00000563909,;RNF40,synonymous_variant,p.=,ENST00000566811,;RNF40,synonymous_variant,p.=,ENST00000565931,;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;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,;							LOW	177/3006		BRE1B_HUMAN			Transcript			.	ENSP00000325677		CCDS10691.1			1	
MYO3B	0	LGGM	GRCh37	2	171258124	171258124	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000408978.4:c.2052C>A	p.Ser684=	p.S684=	ENST00000408978	NM_138995.4	684	tcC/tcA	0	1	1	UPI000020907B	0		ENST00000408978		ENSG00000071909	15576		16			HGNC	p.S693S	COSM3673522,COSM3673521	MYO3B		SNV						1,1	ENST00000484338	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS51456		S		A		2195/5529							YES	MYO3B,synonymous_variant,p.=,ENST00000334231,;MYO3B,synonymous_variant,p.=,ENST00000408978,NM_138995.4;MYO3B,synonymous_variant,p.=,ENST00000409044,NM_001083615.3;MYO3B,synonymous_variant,p.=,ENST00000484338,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,synonymous_variant,p.=,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;					1,1		LOW	2052/4026		MYO3B_HUMAN			Transcript			.	ENSP00000386213		CCDS42773.1			1	
ANKLE2	0	LGGM	GRCh37	12	133313623	133313623	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	4	.	.	ENST00000357997.5:c.1449G>T	p.Ala483=	p.A483=	ENST00000357997	NM_015114.1	483	gcG/gcT	0	1	1	UPI00001981FB	0		ENST00000357997		ENSG00000176915	29101		13			HGNC	p.A483A		ANKLE2		SNV							ENST00000337516	protein_coding			hmmpanther:PTHR20976,hmmpanther:PTHR20976:SF1		A		A		1539/4481				F5H417_HUMAN,F5H2H5_HUMAN,F5H1E7_HUMAN,F5H1D4_HUMAN			YES	ANKLE2,synonymous_variant,p.=,ENST00000539605,;ANKLE2,synonymous_variant,p.=,ENST00000357997,NM_015114.1;ANKLE2,synonymous_variant,p.=,ENST00000337516,;ANKLE2,synonymous_variant,p.=,ENST00000535036,;ANKLE2,upstream_gene_variant,,ENST00000542282,;ANKLE2,upstream_gene_variant,,ENST00000542657,;ANKLE2,upstream_gene_variant,,ENST00000538766,;ANKLE2,downstream_gene_variant,,ENST00000545623,;ANKLE2,upstream_gene_variant,,ENST00000542374,;ANKLE2,downstream_gene_variant,,ENST00000538637,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000505031,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000439231,;ANKLE2,non_coding_transcript_exon_variant,,ENST00000538591,;							LOW	1449/2817		ANKL2_HUMAN			Transcript			.	ENSP00000350686		CCDS41869.1			1	
STX18	0	LGGM	GRCh37	4	4543574	4543574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	4	.	.	ENST00000306200.2:c.118C>A	p.Arg40Ser	p.R40S	ENST00000306200	NM_016930.2	40	Cgc/Agc	0	1	1	UPI0000049FDD	0	NA	ENST00000306200		ENSG00000168818	15942		7	1.845		HGNC	p.R40S		STX18		SNV							ENST00000505286	protein_coding	getma.org/?cm=var&var=hg19,4,4543574,G,T&fts=all		hmmpanther:PTHR15959,hmmpanther:PTHR15959:SF0,Pfam_domain:PF10496		R/S		T	low	182/2138		getma.org/?cm=msa&ty=f&p=STX18_HUMAN&rb=3&re=96&var=R40S	tolerated(0.1)	D6RD65_HUMAN,D6RC71_HUMAN			YES	STX18,missense_variant,p.Arg40Ser,ENST00000306200,NM_016930.2;STX18,missense_variant,p.Arg40Ser,ENST00000505286,;STX18,intron_variant,,ENST00000507908,;STX18-AS1,upstream_gene_variant,,ENST00000610009,;STX18-AS1,upstream_gene_variant,,ENST00000502693,;STX18-AS1,upstream_gene_variant,,ENST00000507244,;STX18-AS1,upstream_gene_variant,,ENST00000499430,;STX18-AS1,upstream_gene_variant,,ENST00000512438,;STX18-AS1,upstream_gene_variant,,ENST00000514763,;STX18,non_coding_transcript_exon_variant,,ENST00000512780,;							MODERATE	118/1008	R40S	STX18_HUMAN			Transcript		benign(0.132)	.	ENSP00000305810		CCDS3377.1			1	
MYOM3	0	LGGM	GRCh37	1	24407864	24407864	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000374434.3:c.2363C>G	p.Pro788Arg	p.P788R	ENST00000374434	NM_152372.3	788	cCc/cGc	0	1	1	UPI0000203A5D	0	getma.org/pdb.php?prot=MYOM3_HUMAN&from=700&to=795&var=P788R	ENST00000374434		ENSG00000142661	26679		14	3.255		HGNC	p.P788R		MYOM3		SNV							ENST00000329601	protein_coding	getma.org/?cm=var&var=hg19,1,24407864,G,C&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF35,hmmpanther:PTHR19900,PROSITE_profiles:PS50853		P/R		C	medium	2526/5804		getma.org/?cm=msa&ty=f&p=MYOM3_HUMAN&rb=700&re=795&var=P788R	deleterious(0)				YES	MYOM3,missense_variant,p.Pro789Arg,ENST00000330966,;MYOM3,missense_variant,p.Pro788Arg,ENST00000374434,NM_152372.3;MYOM3,missense_variant,p.Pro788Arg,ENST00000329601,;RP11-293P20.4,intron_variant,,ENST00000429191,;RP11-293P20.2,intron_variant,,ENST00000439239,;MYOM3,intron_variant,,ENST00000448831,;MYOM3,downstream_gene_variant,,ENST00000475306,;							MODERATE	2363/4314	P788R	MYOM3_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000363557		CCDS41281.1			1	
CCDC50	0	LGGM	GRCh37	3	191074899	191074899	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000392456.3:c.72G>T	p.Leu24=	p.L24=	ENST00000392456	NM_178335.2	24	ctG/ctT	0	1		UPI0000074607	0		ENST00000392455		ENSG00000152492	18111		33			HGNC	p.L24L		CCDC50		SNV			1				ENST00000392455	protein_coding			Pfam_domain:PF15295,hmmpanther:PTHR22115:SF1,hmmpanther:PTHR22115		L		T		670/8429								CCDC50,synonymous_variant,p.=,ENST00000392455,NM_174908.3;CCDC50,synonymous_variant,p.=,ENST00000392456,NM_178335.2;CCDC50,upstream_gene_variant,,ENST00000460064,;							LOW	72/921		CCD50_HUMAN			Transcript			.	ENSP00000376249		CCDS33913.1			1	
ADCY10	0	LGGM	GRCh37	1	167780061	167780061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000367851.4:c.4572G>T	p.Met1524Ile	p.M1524I	ENST00000367851	NM_018417.4	1524	atG/atT	0	1	1	UPI0000204D00	0	NA	ENST00000367851		ENSG00000143199	21285		32	2.015		HGNC	p.M1371I		ADCY10		SNV			1				ENST00000545172	protein_coding	getma.org/?cm=var&var=hg19,1,167780061,C,A&fts=all		Gene3D:1.25.40.10,PIRSF_domain:PIRSF011131,hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF23		M/I		A	medium	4757/5051		getma.org/?cm=msa&ty=f&p=ADCYA_HUMAN&rb=1421&re=1610&var=M1524I	tolerated(0.05)				YES	ADCY10,missense_variant,p.Met1432Ile,ENST00000367848,;ADCY10,missense_variant,p.Met1524Ile,ENST00000367851,NM_018417.4;ADCY10,missense_variant,p.Met1371Ile,ENST00000545172,NM_001167749.1;ADCY10,3_prime_UTR_variant,,ENST00000485964,;							MODERATE	4572/4833	M1524I	ADCYA_HUMAN			Transcript		benign(0.005)	.	ENSP00000356825		CCDS1265.1			1	
TLR4	0	LGGM	GRCh37	9	120476548	120476548	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000355622.6:c.2142C>A	p.Pro714=	p.P714=	ENST00000355622	NM_138557.2	714	ccC/ccA	0	1	1	UPI0000137057	0		ENST00000355622		ENSG00000136869	11850		38			HGNC	p.P674P	COSM318117	TLR4		SNV			1			1	ENST00000394487	protein_coding			Gene3D:3.40.50.10140,Pfam_domain:PF01582,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,SMART_domains:SM00255,Superfamily_domains:SSF52200		P		A		2243/4844				K9MSZ3_HUMAN,D0EWT7_HUMAN			YES	TLR4,synonymous_variant,p.=,ENST00000355622,NM_138557.2,NM_138554.4;TLR4,synonymous_variant,p.=,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;					1		LOW	2142/2520		TLR4_HUMAN			Transcript			.	ENSP00000363089		CCDS6818.1			1	
PYGL	0	LGGM	GRCh37	14	51410971	51410971	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	4	.	.	ENST00000216392.7:c.151G>T	p.Asp51Tyr	p.D51Y	ENST00000216392	NM_002863.4	51	Gac/Tac	0	1	1	UPI000011136E	0	getma.org/pdb.php?prot=PYGL_HUMAN&from=1&to=111&var=D51Y	ENST00000216392		ENSG00000100504	9725		7	3.085		HGNC	p.D51Y		PYGL		SNV			1				ENST00000216392	protein_coding	getma.org/?cm=var&var=hg19,14,51410971,C,A&fts=all		hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF6,TIGRFAM_domain:TIGR02093,Gene3D:3.40.50.2000,PIRSF_domain:PIRSF000460,Superfamily_domains:SSF53756		D/Y		A	medium	484/3048		getma.org/?cm=msa&ty=f&p=PYGL_HUMAN&rb=1&re=111&var=D51Y	deleterious(0)				YES	PYGL,missense_variant,p.Asp51Tyr,ENST00000216392,NM_002863.4;PYGL,missense_variant,p.Asp51Tyr,ENST00000532462,;PYGL,missense_variant,p.Asp51Tyr,ENST00000544180,NM_001163940.1;PYGL,non_coding_transcript_exon_variant,,ENST00000530336,;							MODERATE	151/2544	D51Y	PYGL_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000216392		CCDS32080.1			1	
TM4SF5	0	LGGM	GRCh37	17	4675274	4675274	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000270560.3:c.57C>A	p.Leu19=	p.L19=	ENST00000270560	NM_003963.2	19	ctC/ctA	0	1	1	UPI0000152C4B	0		ENST00000270560		ENSG00000142484	11857		49			HGNC	p.L19L		TM4SF5		SNV							ENST00000270560	protein_coding			Pfam_domain:PF05805,hmmpanther:PTHR14198,hmmpanther:PTHR14198:SF4,Cleavage_site_(Signalp):SignalP-TM,Transmembrane_helices:TMhelix		L		A		88/708							YES	TM4SF5,synonymous_variant,p.=,ENST00000270560,NM_003963.2;TM4SF5,non_coding_transcript_exon_variant,,ENST00000576530,;							LOW	57/594		T4S5_HUMAN			Transcript			.	ENSP00000270560		CCDS11054.1			1	
OTOP1	0	LGGM	GRCh37	4	4199215	4199215	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000296358.4:c.1346G>T	p.Arg449Leu	p.R449L	ENST00000296358	NM_177998.1	449	cGa/cTa	0	1	1	UPI0000186945	0	NA	ENST00000296358		ENSG00000163982	19656		33	1.7		HGNC	p.R449L		OTOP1		SNV							ENST00000296358	protein_coding	getma.org/?cm=var&var=hg19,4,4199215,C,A&fts=all		Pfam_domain:PF03189,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19		R/L		A	low	1371/1864		getma.org/?cm=msa&ty=f&p=OTOP1_HUMAN&rb=242&re=461&var=R449L	deleterious(0.01)				YES	OTOP1,missense_variant,p.Arg449Leu,ENST00000296358,NM_177998.1;							MODERATE	1346/1839	R449L	OTOP1_HUMAN			Transcript		possibly_damaging(0.478)	.	ENSP00000296358		CCDS3372.1			1	
PAPPA2	0	LGGM	GRCh37	1	176668687	176668687	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000367662.3:c.3198C>A	p.Pro1066=	p.P1066=	ENST00000367662	NM_020318.2	1066	ccC/ccA	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		27			HGNC	p.P1066P		PAPPA2		SNV							ENST00000367662	protein_coding			Gene3D:2.60.40.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,Superfamily_domains:SSF49265		P		A		4362/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;							LOW	3198/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
MYOM1	0	LGGM	GRCh37	18	3071879	3071879	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000356443.4:c.4717C>A	p.Arg1573=	p.R1573=	ENST00000356443	NM_019856.1	1573	Cgg/Agg	0	1	1	UPI000022A657	0		ENST00000356443		ENSG00000101605	7613		30			HGNC	p.R1573R		MYOM1		SNV							ENST00000356443	protein_coding			hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF36		R		T		5051/5847							YES	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,;MYOM1,downstream_gene_variant,,ENST00000581075,;							LOW	4717/5058		MYOM1_HUMAN			Transcript			.	ENSP00000348821		CCDS45824.1			1	
GUCY1A3	0	LGGM	GRCh37	4	156618079	156618079	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000296518.7:c.60G>T	p.Leu20=	p.L20=	ENST00000296518		20	ctG/ctT	0	1	1	UPI0000033343	0		ENST00000296518		ENSG00000164116	4685		41			HGNC	p.L20L		GUCY1A3		SNV			1				ENST00000506455	protein_coding					L		T		269/4400				Q9NNW8_HUMAN,J3KPQ8_HUMAN			YES	GUCY1A3,splice_region_variant,,ENST00000393832,NM_001130685.2;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,splice_region_variant,,ENST00000515602,;GUCY1A3,synonymous_variant,p.=,ENST00000443668,;GUCY1A3,synonymous_variant,p.=,ENST00000515201,;GUCY1A3,synonymous_variant,p.=,ENST00000509901,;GUCY1A3,non_coding_transcript_exon_variant,,ENST00000512983,;							LOW	60/2073		GCYA3_HUMAN			Transcript			.	ENSP00000296518		CCDS34085.1			1	
C22orf31	0	LGGM	GRCh37	22	29454943	29454943	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000216071.4:c.660G>T	p.Val220=	p.V220=	ENST00000216071	NM_015370.1	220	gtG/gtT	0	1	1	UPI0000073FE0	0		ENST00000216071		ENSG00000100249	26931		30			HGNC	p.V220V	COSM3673247	C22orf31		SNV						1	ENST00000216071	protein_coding			Pfam_domain:PF15578,hmmpanther:PTHR15578		V		A		712/995							YES	C22orf31,synonymous_variant,p.=,ENST00000216071,NM_015370.1;ZNRF3,downstream_gene_variant,,ENST00000544604,NM_001206998.1;ZNRF3,downstream_gene_variant,,ENST00000332811,;ZNRF3,downstream_gene_variant,,ENST00000406323,;					1		LOW	660/873		CV031_HUMAN			Transcript			.	ENSP00000216071		CCDS13848.1			1	
PHF20	0	LGGM	GRCh37	20	34389508	34389508	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000374012.3:c.64C>A	p.Arg22=	p.R22=	ENST00000374012		22	Cgg/Agg	0	1	1	UPI000006E61B	0		ENST00000374012		ENSG00000025293	16098		38			HGNC	p.R22R		PHF20		SNV							ENST00000439301	protein_coding			Gene3D:2.30.30.160,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF27,SMART_domains:SM00333,Superfamily_domains:SSF63748		R		A		193/5922				Q5JXL1_HUMAN,Q5JWZ0_HUMAN,B3KUL4_HUMAN			YES	PHF20,synonymous_variant,p.=,ENST00000374012,;PHF20,synonymous_variant,p.=,ENST00000439301,NM_016436.4;PHF20,synonymous_variant,p.=,ENST00000339089,;PHF20,synonymous_variant,p.=,ENST00000374000,;PHF20,non_coding_transcript_exon_variant,,ENST00000481202,;PHF20,intron_variant,,ENST00000461122,;PHF20,synonymous_variant,p.=,ENST00000452270,;PHF20,non_coding_transcript_exon_variant,,ENST00000461405,;							LOW	64/3039		PHF20_HUMAN			Transcript			.	ENSP00000363124		CCDS13268.1			1	
MYH7B	0	LGGM	GRCh37	20	33577843	33577843	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000262873.7:c.1920G>T	p.Leu640=	p.L640=	ENST00000262873	NM_020884.3	640	ctG/ctT	0	1	1	UPI0000253BD4	0		ENST00000262873		ENSG00000078814	15906		37			HGNC	p.L640L		MYH7B		SNV			1				ENST00000262873	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF310,SMART_domains:SM00242,Superfamily_domains:SSF52540		L		T		2012/6293							YES	MYH7B,synonymous_variant,p.=,ENST00000262873,NM_020884.3;MIR499A,upstream_gene_variant,,ENST00000384903,;							LOW	1920/5952		MYH7B_HUMAN			Transcript			.	ENSP00000262873		CCDS42869.1			1	
FBN1	0	LGGM	GRCh37	15	48812906	48812906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000316623.5:c.1097G>T	p.Trp366Leu	p.W366L	ENST00000316623	NM_000138.4	366	tGg/tTg	0	1	1	UPI0000163B0B	0	NA	ENST00000316623		ENSG00000166147	3603		30	2.71		HGNC	p.W366L		FBN1		SNV			1				ENST00000316623	protein_coding	getma.org/?cm=var&var=hg19,15,48812906,C,A&fts=all		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Superfamily_domains:SSF57581		W/L		A	medium	1553/11756		getma.org/?cm=msa&ty=f&p=FBN1_HUMAN&rb=343&re=388&var=W366L		Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,missense_variant,p.Trp366Leu,ENST00000316623,NM_000138.4;FBN1,intron_variant,,ENST00000537463,;							MODERATE	1097/8616	W366L	FBN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000325527		CCDS32232.1			1	
NUP62	0	LGGM	GRCh37	19	50412323	50412323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000596217.1:c.742G>T	p.Ala248Ser	p.A248S	ENST00000596217		248	Gcc/Tcc	0	1		UPI000013EAFD	0	NA	ENST00000352066		ENSG00000213024	8066		12	1.355		HGNC	p.A248S		NUP62		SNV			1				ENST00000597029	protein_coding	getma.org/?cm=var&var=hg19,19,50412323,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12084:SF2,hmmpanther:PTHR12084		A/S		A	low	1347/2870		getma.org/?cm=msa&ty=f&p=NUP62_HUMAN&rb=201&re=315&var=A248S	tolerated(0.34)	M0R302_HUMAN,M0R1S1_HUMAN,M0R0B7_HUMAN,M0QZL5_HUMAN,M0QYY0_HUMAN,M0QX64_HUMAN,M0QX41_HUMAN,M0QX13_HUMAN,M0QX10_HUMAN				NUP62,missense_variant,p.Ala248Ser,ENST00000596217,;NUP62,missense_variant,p.Ala248Ser,ENST00000422090,NM_001193357.1;NUP62,missense_variant,p.Ala248Ser,ENST00000413454,NM_153718.3,NM_012346.4;NUP62,missense_variant,p.Ala248Ser,ENST00000352066,NM_016553.4;NUP62,missense_variant,p.Ala248Ser,ENST00000597029,;NUP62,missense_variant,p.Ala248Ser,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,;							MODERATE	742/1569	A248S	NUP62_HUMAN			Transcript		benign(0.103)	.	ENSP00000305503		CCDS12788.1			1	
FAT2	0	LGGM	GRCh37	5	150933971	150933971	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000261800.5:c.3897G>C	p.Val1299=	p.V1299=	ENST00000261800	NM_001447.2	1299	gtG/gtC	0	1	1	UPI0000055B22	0		ENST00000261800		ENSG00000086570	3596		19			HGNC	p.V1299V		FAT2		SNV							ENST00000261800	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Low_complexity_(Seg):seg,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		G		3910/14534							YES	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;							LOW	3897/13050		FAT2_HUMAN			Transcript			.	ENSP00000261800		CCDS4317.1			1	
TOP3A	0	LGGM	GRCh37	17	18181362	18181362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000321105.5:c.2454G>T	p.Glu818Asp	p.E818D	ENST00000321105	NM_004618.3	818	gaG/gaT	0	1	1	UPI00001371A0	0	NA	ENST00000321105		ENSG00000177302	11992		25	1.36		HGNC	p.E723D		TOP3A		SNV							ENST00000542570	protein_coding	getma.org/?cm=var&var=hg19,17,18181362,C,A&fts=all		hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF23,Pfam_domain:PF06839		E/D		A	low	2669/4056		getma.org/?cm=msa&ty=f&p=TOP3A_HUMAN&rb=811&re=852&var=E818D	tolerated(0.41)	B4DSJ0_HUMAN,A8K398_HUMAN			YES	TOP3A,missense_variant,p.Glu818Asp,ENST00000321105,NM_004618.3;TOP3A,missense_variant,p.Glu723Asp,ENST00000542570,;TOP3A,missense_variant,p.Glu793Asp,ENST00000580095,;TOP3A,missense_variant,p.Glu348Asp,ENST00000540524,;TOP3A,upstream_gene_variant,,ENST00000489131,;TOP3A,3_prime_UTR_variant,,ENST00000584582,;TOP3A,3_prime_UTR_variant,,ENST00000582981,;TOP3A,non_coding_transcript_exon_variant,,ENST00000469739,;TOP3A,downstream_gene_variant,,ENST00000477508,;TOP3A,downstream_gene_variant,,ENST00000582122,;TOP3A,upstream_gene_variant,,ENST00000493648,;							MODERATE	2454/3006	E818D	TOP3A_HUMAN			Transcript		benign(0.049)	.	ENSP00000321636		CCDS11194.1			1	
SI	0	LGGM	GRCh37	3	164737421	164737421	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000264382.3:c.3392G>T	p.Trp1131Leu	p.W1131L	ENST00000264382	NM_001041.3	1131	tGg/tTg	0	1	1	UPI000022C287	0	getma.org/pdb.php?prot=SUIS_HUMAN&from=978&to=1177&var=W1131L	ENST00000264382		ENSG00000090402	10856		40	2.155		HGNC	p.W1131L		SI		SNV			1				ENST00000264382	protein_coding	getma.org/?cm=var&var=hg19,3,164737421,C,A&fts=all		Superfamily_domains:SSF74650		W/L		A	medium	3455/6011		getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=978&re=1177&var=W1131L	tolerated(0.14)				YES	SI,missense_variant,p.Trp1131Leu,ENST00000264382,NM_001041.3;							MODERATE	3392/5484	W1131L	SUIS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264382		CCDS3196.1			1	
ITGA2B	0	LGGM	GRCh37	17	42452070	42452070	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000262407.5:c.2900C>A	p.Pro967His	p.P967H	ENST00000262407	NM_000419.3	967	cCc/cAc	0	1	1	UPI00001868B8	0	getma.org/pdb.php?prot=ITA2B_HUMAN&from=922&to=1019&var=P967H	ENST00000262407		ENSG00000005961	6138		11	2.75		HGNC	p.P967H		ITGA2B		SNV			1				ENST00000262407	protein_coding	getma.org/?cm=var&var=hg19,17,42452070,G,T&fts=all		Gene3D:1jv2A04,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF73,Superfamily_domains:SSF69179		P/H		T	medium	2932/3333		getma.org/?cm=msa&ty=f&p=ITA2B_HUMAN&rb=922&re=1019&var=P967H	deleterious(0)	Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN			YES	ITGA2B,missense_variant,p.Pro967His,ENST00000262407,NM_000419.3;ITGA2B,intron_variant,,ENST00000353281,;ITGA2B,intron_variant,,ENST00000587295,;ITGA2B,upstream_gene_variant,,ENST00000588098,;ITGA2B,non_coding_transcript_exon_variant,,ENST00000592462,;							MODERATE	2900/3120	P967H	ITA2B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000262407		CCDS32665.1			1	
SLC39A14	0	LGGM	GRCh37	8	22265934	22265934	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000359741.5:c.382C>A	p.Arg128=	p.R128=	ENST00000359741	NM_015359.4	128	Cgg/Agg	0	1		UPI0000046C44	0		ENST00000289952		ENSG00000104635	20858		30			HGNC	p.R128R		SLC39A14		SNV							ENST00000359741	protein_coding			hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF5		R		A		598/2137				E5RJ40_HUMAN,E5RJG5_HUMAN,E5RIP4_HUMAN,E5RGA7_HUMAN,E5RFZ8_HUMAN,E5RFT1_HUMAN,E5RFF5_HUMAN				SLC39A14,synonymous_variant,p.=,ENST00000381237,NM_001128431.2;SLC39A14,synonymous_variant,p.=,ENST00000359741,NM_015359.4;SLC39A14,synonymous_variant,p.=,ENST00000289952,NM_001135153.1;SLC39A14,synonymous_variant,p.=,ENST00000240095,NM_001135154.1;SLC39A14,synonymous_variant,p.=,ENST00000522881,;SLC39A14,incomplete_terminal_codon_variant,p.=,ENST00000517552,;SLC39A14,upstream_gene_variant,,ENST00000517370,;SLC39A14,downstream_gene_variant,,ENST00000520832,;SLC39A14,downstream_gene_variant,,ENST00000524285,;SLC39A14,downstream_gene_variant,,ENST00000519960,;SLC39A14,downstream_gene_variant,,ENST00000520644,;							LOW	382/1479		S39AE_HUMAN			Transcript			.	ENSP00000289952		CCDS47823.1			1	
FAM198B	0	LGGM	GRCh37	4	159092156	159092156	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000393807.5:c.372C>A	p.Thr124=	p.T124=	ENST00000393807	NM_001031700.2	124	acC/acA	0	1		UPI000004C63B	0		ENST00000296530		ENSG00000164125	25312		46			HGNC	p.T124T		FAM198B		SNV							ENST00000296530	protein_coding			hmmpanther:PTHR15905,hmmpanther:PTHR15905:SF1		T		T		994/4985				Q9NYZ0_HUMAN,K7EK71_HUMAN,B4E252_HUMAN				FAM198B,synonymous_variant,p.=,ENST00000296530,NM_016613.6;FAM198B,synonymous_variant,p.=,ENST00000585682,NM_001128424.1;FAM198B,synonymous_variant,p.=,ENST00000393807,NM_001031700.2;FAM198B,synonymous_variant,p.=,ENST00000592057,;FAM198B,downstream_gene_variant,,ENST00000587787,;FAM198B,upstream_gene_variant,,ENST00000593260,;FAM198B,upstream_gene_variant,,ENST00000592586,;RP11-597D13.9,non_coding_transcript_exon_variant,,ENST00000503611,;RP11-597D13.9,upstream_gene_variant,,ENST00000505532,;RP11-597D13.9,upstream_gene_variant,,ENST00000514381,;RP11-597D13.9,upstream_gene_variant,,ENST00000509463,;FAM198B,intron_variant,,ENST00000589306,;							LOW	372/1560		F198B_HUMAN			Transcript			.	ENSP00000296530		CCDS3798.1			1	
POLM	0	LGGM	GRCh37	7	44116176	44116176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000242248.5:c.767G>T	p.Arg256Leu	p.R256L	ENST00000242248	NM_013284.2	256	cGg/cTg	0	1	1	UPI000004129C	0	getma.org/pdb.php?prot=DPOLM_HUMAN&from=237&to=288&var=R256L	ENST00000242248		ENSG00000122678	9185		17	1.9		HGNC	p.R256L		POLM		SNV							ENST00000242248	protein_coding	getma.org/?cm=var&var=hg19,7,44116176,C,A&fts=all		hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF24,Gene3D:1.10.150.20,Pfam_domain:PF10391,PIRSF_domain:PIRSF000817,SMART_domains:SM00483,PIRSF_domain:PIRSF501176,Superfamily_domains:SSF81585,Prints_domain:PR00869		R/L		A	low	869/2631		getma.org/?cm=msa&ty=f&p=DPOLM_HUMAN&rb=237&re=288&var=R256L	deleterious(0)				YES	POLM,missense_variant,p.Arg256Leu,ENST00000242248,NM_013284.2;POLM,missense_variant,p.Arg256Leu,ENST00000335195,NM_001284331.1;POLM,intron_variant,,ENST00000395831,NM_001284330.1;POLM,downstream_gene_variant,,ENST00000452049,;POLM,downstream_gene_variant,,ENST00000414235,;POLM,non_coding_transcript_exon_variant,,ENST00000492971,;POLM,missense_variant,p.Arg166Leu,ENST00000434229,;POLM,3_prime_UTR_variant,,ENST00000458246,;POLM,3_prime_UTR_variant,,ENST00000430942,;POLM,3_prime_UTR_variant,,ENST00000418926,;POLM,non_coding_transcript_exon_variant,,ENST00000492605,;POLM,intron_variant,,ENST00000435068,;POLM,downstream_gene_variant,,ENST00000492312,;POLM,downstream_gene_variant,,ENST00000492321,;POLM,downstream_gene_variant,,ENST00000445616,;POLM,upstream_gene_variant,,ENST00000467607,;POLM,downstream_gene_variant,,ENST00000497300,;POLM,downstream_gene_variant,,ENST00000483644,;							MODERATE	767/1485	R256L	DPOLM_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000242248		CCDS34625.1			1	
AMPD3	0	LGGM	GRCh37	11	10506382	10506382	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000396554.3:c.632C>A	p.Pro211Gln	p.P211Q	ENST00000396554	NM_000480.2	211	cCa/cAa	0	1		UPI0000125959	0	NA	ENST00000396553		ENSG00000133805	470		19	2.655		HGNC	p.P43Q		AMPD3		SNV			1				ENST00000444303	protein_coding	getma.org/?cm=var&var=hg19,11,10506382,C,A&fts=all		PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF2,Superfamily_domains:SSF51556,TIGRFAM_domain:TIGR01429		P/Q		A	medium	739/3680		getma.org/?cm=msa&ty=f&p=AMPD3_HUMAN&rb=122&re=309&var=P202Q	deleterious(0.02)	E9PPG2_HUMAN,E9PLK6_HUMAN				AMPD3,missense_variant,p.Pro43Gln,ENST00000444303,NM_001172431.1;AMPD3,missense_variant,p.Pro211Gln,ENST00000396554,NM_000480.2;AMPD3,missense_variant,p.Pro202Gln,ENST00000396553,NM_001025389.1;AMPD3,missense_variant,p.Pro202Gln,ENST00000529507,NM_001172430.1;AMPD3,missense_variant,p.Pro209Gln,ENST00000528723,NM_001025390.1;AMPD3,missense_variant,p.Pro202Gln,ENST00000524866,;AMPD3,downstream_gene_variant,,ENST00000529835,;AMPD3,missense_variant,p.Pro202Gln,ENST00000529834,;AMPD3,non_coding_transcript_exon_variant,,ENST00000531227,;AMPD3,intron_variant,,ENST00000534047,;							MODERATE	605/2304	P202Q	AMPD3_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000379801		CCDS41617.1			1	
RPGRIP1L	0	LGGM	GRCh37	16	53734564	53734564	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000379925.3:c.72G>T	p.Met24Ile	p.M24I	ENST00000379925	NM_015272.2	24	atG/atT	0	1	1	UPI000047DAF2	0	NA	ENST00000379925		ENSG00000103494	29168		43	-0.895		HGNC	p.M24I		RPGRIP1L		SNV			1				ENST00000262135	protein_coding	getma.org/?cm=var&var=hg19,16,53734564,C,A&fts=all		hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF4		M/I		A	neutral	123/5297		getma.org/?cm=msa&ty=f&p=FTM_HUMAN&rb=1&re=209&var=M24I	tolerated(1)	J3QLR9_HUMAN,I3L2P2_HUMAN,H3BPF5_HUMAN			YES	RPGRIP1L,missense_variant,p.Met24Ile,ENST00000262135,NM_001127897.1;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000379925,NM_015272.2;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000563746,;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000564374,;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000568653,;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000562230,;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000566096,;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000562588,;RPGRIP1L,missense_variant,p.Met24Ile,ENST00000569716,;FTO,upstream_gene_variant,,ENST00000471389,NM_001080432.2;FTO,upstream_gene_variant,,ENST00000394647,;FTO,upstream_gene_variant,,ENST00000570395,;FTO,upstream_gene_variant,,ENST00000464071,;							MODERATE	72/3948	M24I	FTM_HUMAN			Transcript		benign(0)	.	ENSP00000369257		CCDS32447.1			1	
NLGN4X	0	LGGM	GRCh37	X	6069248	6069248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000381095.3:c.260G>T	p.Arg87Leu	p.R87L	ENST00000381095	NM_181332.1	87	cGg/cTg	0	1		UPI0000072EC5	0	getma.org/pdb.php?prot=NLGNX_HUMAN&from=22&to=590&var=R87L	ENST00000275857		ENSG00000146938	14287		27	4.695		HGNC	p.R87L		NLGN4X		SNV			1				ENST00000381092	protein_coding	getma.org/?cm=var&var=hg19,X,6069248,C,A&fts=all		Superfamily_domains:SSF53474,Pfam_domain:PF00135,Gene3D:3.40.50.1820,hmmpanther:PTHR11559:SF195,hmmpanther:PTHR11559		R/L		A	high	724/5454		getma.org/?cm=msa&ty=f&p=NLGNX_HUMAN&rb=22&re=590&var=R87L	deleterious(0)	B3KMT6_HUMAN				NLGN4X,missense_variant,p.Arg87Leu,ENST00000381095,NM_181332.1,NM_001282146.1,NM_001282145.1;NLGN4X,missense_variant,p.Arg87Leu,ENST00000381093,;NLGN4X,missense_variant,p.Arg87Leu,ENST00000275857,NM_020742.2;NLGN4X,missense_variant,p.Arg87Leu,ENST00000381092,;NLGN4X,missense_variant,p.Arg87Leu,ENST00000538097,;NLGN4X,non_coding_transcript_exon_variant,,ENST00000469740,;NLGN4X,downstream_gene_variant,,ENST00000483337,;							MODERATE	260/2451	R87L	NLGNX_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000275857		CCDS14126.1			1	
SYTL4	0	LGGM	GRCh37	X	99931117	99931117	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000455616.1:c.1924C>A	p.Leu642Met	p.L642M	ENST00000455616		642	Ctg/Atg	0	1		UPI00001AE9F2	0	NA	ENST00000263033		ENSG00000102362	15588		31	2.61		HGNC	p.L642M	COSM4111698	SYTL4		SNV						1	ENST00000372989	protein_coding	getma.org/?cm=var&var=hg19,X,99931117,G,T&fts=all		hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024,Gene3D:2.60.40.150		L/M		T	medium	2112/2335		getma.org/?cm=msa&ty=f&p=SYTL4_HUMAN&rb=618&re=671&var=L642M	deleterious(0.05)	B3KUZ4_HUMAN				SYTL4,missense_variant,p.Leu642Met,ENST00000455616,;SYTL4,missense_variant,p.Leu642Met,ENST00000372989,NM_080737.2;SYTL4,missense_variant,p.Leu644Met,ENST00000454200,;SYTL4,missense_variant,p.Leu642Met,ENST00000276141,NM_001174068.1;SYTL4,missense_variant,p.Leu642Met,ENST00000263033,NM_001129896.2;SRPX2,downstream_gene_variant,,ENST00000373004,NM_014467.2;RP11-524D16__A.3,downstream_gene_variant,,ENST00000568809,;SYTL4,non_coding_transcript_exon_variant,,ENST00000491602,;					1		MODERATE	1924/2016	L642M	SYTL4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263033		CCDS14472.1			1	
SEPN1	0	LGGM	GRCh37	1	26135143	26135143	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000361547.2:c.610C>A	p.Arg204Ser	p.R204S	ENST00000361547	NM_020451.2	204	Cgc/Agc	0	1	1	UPI00003761B2	0	NA	ENST00000361547		ENSG00000162430	15999		37	0.92		HGNC	p.R170S		SEPN1		SNV			1				ENST00000354177	protein_coding	getma.org/?cm=var&var=hg19,1,26135143,C,A&fts=all		hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF39		R/S		A	low	665/4332		getma.org/?cm=msa&ty=f&p=SELN_HUMAN&rb=171&re=589&var=R204S	tolerated(0.65)	D3DPJ3_HUMAN			YES	SEPN1,missense_variant,p.Arg204Ser,ENST00000361547,NM_020451.2;SEPN1,missense_variant,p.Arg170Ser,ENST00000354177,;SEPN1,missense_variant,p.Arg170Ser,ENST00000374315,NM_206926.1;SEPN1,upstream_gene_variant,,ENST00000494537,;RP1-317E23.6,upstream_gene_variant,,ENST00000559265,;							MODERATE	610/1773	R204S	SELN_HUMAN			Transcript		benign(0.037)	.	ENSP00000355141		CCDS41282.1			1	
SRCAP	0	LGGM	GRCh37	16	30721330	30721330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000262518.4:c.1015C>A	p.Leu339Ile	p.L339I	ENST00000262518	NM_006662.2	339	Ctt/Att	0	1	1	UPI000059D368	0	NA	ENST00000262518		ENSG00000080603	16974		20	2.07		HGNC	p.L339I		SRCAP		SNV			1				ENST00000344771	protein_coding	getma.org/?cm=var&var=hg19,16,30721330,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg		L/I		A	medium	1400/10474		getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=261&re=569&var=L339I		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,missense_variant,p.Leu339Ile,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Leu339Ile,ENST00000395059,;SRCAP,missense_variant,p.Leu339Ile,ENST00000344771,;SNORA30,upstream_gene_variant,,ENST00000384028,NR_002966.1;SRCAP,missense_variant,p.Leu320Ile,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;							MODERATE	1015/9693	L339I	SRCAP_HUMAN			Transcript		unknown(0)	.	ENSP00000262518		CCDS10689.2			1	
MXRA5	0	LGGM	GRCh37	X	3242874	3242874	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000217939.6:c.852G>T	p.Leu284=	p.L284=	ENST00000217939	NM_015419.3	284	ctG/ctT	0	1	1	UPI000013C73B	0		ENST00000217939		ENSG00000101825	7539		43			HGNC	p.L284L		MXRA5		SNV							ENST00000217939	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582		L		A		1007/9793							YES	MXRA5,synonymous_variant,p.=,ENST00000217939,NM_015419.3;							LOW	852/8487		MXRA5_HUMAN			Transcript			.	ENSP00000217939		CCDS14124.1			1	
RFX7	0	LGGM	GRCh37	15	56393648	56393648	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	4	.	.	ENST00000423270.1:c.720C>A	p.Thr240=	p.T240=	ENST00000423270	NM_022841.5	240	acC/acA	0	1		UPI0000DB165F	0		ENST00000559447		ENSG00000181827	25777		63			HGNC	p.T143T	rs780999645	RFX7		SNV							ENST00000559847	protein_coding			hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF2		T		T		701/7169	1.54E-05			H0YMH6_HUMAN,H0YLP2_HUMAN				RFX7,synonymous_variant,p.=,ENST00000423270,NM_022841.5;RFX7,synonymous_variant,p.=,ENST00000559447,;RFX7,synonymous_variant,p.=,ENST00000422057,;RFX7,synonymous_variant,p.=,ENST00000317318,;RFX7,downstream_gene_variant,,ENST00000560792,;RFX7,synonymous_variant,p.=,ENST00000559847,;							LOW	429/4092					Transcript			.	ENSP00000453281	8.27E-06				1	
ZNF239	0	LGGM	GRCh37	10	44052432	44052432	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000306006.6:c.1096C>A	p.Arg366=	p.R366=	ENST00000306006	NM_005674.2	366	Cgg/Agg	0	1	1	UPI000006DD0E	0		ENST00000306006		ENSG00000196793	13031		38			HGNC	p.R366R		ZNF239		SNV							ENST00000374446	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF114,hmmpanther:PTHR24377,PROSITE_profiles:PS50157		R		T		1749/2389							YES	ZNF239,synonymous_variant,p.=,ENST00000306006,NM_005674.2;ZNF239,synonymous_variant,p.=,ENST00000374446,NM_001099282.1;ZNF239,synonymous_variant,p.=,ENST00000426961,NM_001099284.1;ZNF239,synonymous_variant,p.=,ENST00000535642,NM_001099283.1;ZNF239,downstream_gene_variant,,ENST00000491188,;							LOW	1096/1377		ZN239_HUMAN			Transcript			.	ENSP00000307774		CCDS41502.1			1	
FANCG	0	LGGM	GRCh37	9	35075745	35075745	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	1	4	.	.	ENST00000378643.3:c.1150C>A	p.Pro384Thr	p.P384T	ENST00000378643	NM_004629.1	384	Cca/Aca	0	1	1	UPI0000000CB4	0	NA	ENST00000378643		ENSG00000221829	3588		5	1.445		HGNC	p.P384T		FANCG		SNV			1				ENST00000378643	protein_coding	getma.org/?cm=var&var=hg19,9,35075745,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15254,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		P/T		T	low	1642/2631		getma.org/?cm=msa&ty=f&p=FANCG_HUMAN&rb=276&re=475&var=P384T	tolerated(0.14)	Q53XM5_HUMAN,C9JSE3_HUMAN			YES	FANCG,missense_variant,p.Pro384Thr,ENST00000378643,NM_004629.1;VCP,upstream_gene_variant,,ENST00000358901,NM_007126.3;VCP,upstream_gene_variant,,ENST00000448530,;FANCG,downstream_gene_variant,,ENST00000448890,;VCP,upstream_gene_variant,,ENST00000417448,;FANCG,intron_variant,,ENST00000476212,;FANCG,3_prime_UTR_variant,,ENST00000425676,;VCP,upstream_gene_variant,,ENST00000493886,;FANCG,downstream_gene_variant,,ENST00000462124,;FANCG,upstream_gene_variant,,ENST00000481254,;FANCG,downstream_gene_variant,,ENST00000474894,;FANCG,downstream_gene_variant,,ENST00000461149,;							MODERATE	1150/1869	P384T	FANCG_HUMAN			Transcript		possibly_damaging(0.46)	.	ENSP00000367910		CCDS6574.1			1	
EPHA5	0	LGGM	GRCh37	4	66201758	66201758	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000273854.3:c.2744G>T	p.Trp915Leu	p.W915L	ENST00000273854	NM_004439.5	915	tGg/tTg	0	1	1	UPI000013D9D9	0	getma.org/pdb.php?prot=EPHA5_HUMAN&from=675&to=932&var=W915L	ENST00000273854		ENSG00000145242	3389		40	2.455		HGNC	p.W916L		EPHA5		SNV							ENST00000511294	protein_coding	getma.org/?cm=var&var=hg19,4,66201758,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109		W/L		A	medium	3345/8266		getma.org/?cm=msa&ty=f&p=EPHA5_HUMAN&rb=675&re=932&var=W915L	deleterious(0)				YES	EPHA5,missense_variant,p.Trp915Leu,ENST00000273854,NM_004439.5,NM_001281765.1;EPHA5,missense_variant,p.Trp916Leu,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Trp752Leu,ENST00000432638,;EPHA5,missense_variant,p.Trp893Leu,ENST00000354839,NM_182472.2;							MODERATE	2744/3114	W915L	EPHA5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000273854		CCDS3513.1			1	
AMER3	0	LGGM	GRCh37	2	131521334	131521334	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000423981.1:c.1689C>A	p.Pro563=	p.P563=	ENST00000423981	NM_001105194.1	563	ccC/ccA	0	1		UPI0000D61239	0		ENST00000321420		ENSG00000178171	26771		14			HGNC	p.P563P		AMER3		SNV							ENST00000321420	protein_coding			hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2		P		A		1948/3273				C9JS07_HUMAN,C9J4B8_HUMAN				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,;							LOW	1689/2586		AMER3_HUMAN			Transcript			.	ENSP00000314914		CCDS2164.1			1	
NEU3	0	LGGM	GRCh37	11	74717325	74717325	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000294064.4:c.1174C>A	p.Arg392Ser	p.R392S	ENST00000294064	NM_006656.5	392	Cgc/Agc	0	1	1	UPI000015F481	0	getma.org/pdb.php?prot=NEUR3_HUMAN&from=36&to=384&var=R359S	ENST00000294064		ENSG00000162139	7760		39	1.265		HGNC	p.R392S		NEU3		SNV							ENST00000294064	protein_coding	getma.org/?cm=var&var=hg19,11,74717325,C,A&fts=all		Gene3D:2.120.10.10,Pfam_domain:PF13088,hmmpanther:PTHR10628,hmmpanther:PTHR10628:SF7,Superfamily_domains:SSF50939		R/S		A	low	2101/3519		getma.org/?cm=msa&ty=f&p=NEUR3_HUMAN&rb=36&re=384&var=R359S	tolerated(0.3)	B4E0V4_HUMAN,A8K327_HUMAN			YES	NEU3,missense_variant,p.Arg392Ser,ENST00000294064,NM_006656.5;NEU3,missense_variant,p.Arg392Ser,ENST00000531509,;NEU3,missense_variant,p.Arg359Ser,ENST00000544263,;NEU3,missense_variant,p.Arg283Ser,ENST00000545272,;NEU3,3_prime_UTR_variant,,ENST00000532963,;NEU3,intron_variant,,ENST00000529024,;NEU3,downstream_gene_variant,,ENST00000531619,;							MODERATE	1174/1386	R359S				Transcript		benign(0.02)	.	ENSP00000294064		CCDS44682.1			1	
NEK11	0	LGGM	GRCh37	3	130887743	130887743	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000383366.4:c.1246C>A	p.Gln416Lys	p.Q416K	ENST00000383366	NM_024800.4	416	Cag/Aag	0	1	1	UPI000013F25D	0	NA	ENST00000383366		ENSG00000114670	18593		23	0.69		HGNC	p.Q416K		NEK11		SNV							ENST00000383366	protein_coding	getma.org/?cm=var&var=hg19,3,130887743,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362		Q/K		A	neutral	1539/2914		getma.org/?cm=msa&ty=f&p=NEK11_HUMAN&rb=288&re=487&var=Q416K	tolerated(0.59)				YES	NEK11,missense_variant,p.Gln416Lys,ENST00000383366,NM_024800.4;NEK11,missense_variant,p.Gln416Lys,ENST00000429253,;NEK11,missense_variant,p.Gln416Lys,ENST00000510688,NM_001146003.1;NEK11,missense_variant,p.Gln311Lys,ENST00000510769,;NEK11,missense_variant,p.Gln416Lys,ENST00000511262,NM_145910.3;NEK11,missense_variant,p.Gln416Lys,ENST00000508196,;NEK11,missense_variant,p.Gln416Lys,ENST00000507910,;NEK11,missense_variant,p.Gln416Lys,ENST00000356918,;NEK11,intron_variant,,ENST00000412440,;NEK11,3_prime_UTR_variant,,ENST00000514915,;NEK11,non_coding_transcript_exon_variant,,ENST00000510823,;NEK11,intron_variant,,ENST00000510474,;NEK11,downstream_gene_variant,,ENST00000515636,;							MODERATE	1246/1938	Q416K	NEK11_HUMAN			Transcript		benign(0.022)	.	ENSP00000372857		CCDS3069.1			1	
RHCE	0	LGGM	GRCh37	1	25718534	25718534	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000294413.7:c.585G>T	p.Thr195=	p.T195=	ENST00000294413	NM_020485.4	195	acG/acT	0	1	1	UPI00001D9627	0		ENST00000294413		ENSG00000188672	10008		46			HGNC	p.T195T	rs374591957	RHCE		SNV	A:0		1				ENST00000243186	protein_coding			Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883		T	A:0.0001	A		644/1591	1.50E-05			Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN			YES	RHCE,synonymous_variant,p.=,ENST00000349320,;RHCE,synonymous_variant,p.=,ENST00000294413,NM_020485.4;RHCE,synonymous_variant,p.=,ENST00000243186,;RHCE,synonymous_variant,p.=,ENST00000374352,;RHCE,synonymous_variant,p.=,ENST00000413854,;RHCE,synonymous_variant,p.=,ENST00000425135,;RHCE,synonymous_variant,p.=,ENST00000349438,NM_138618.3;RHCE,intron_variant,,ENST00000455194,;RHCE,intron_variant,,ENST00000340849,NM_138617.3;RHCE,intron_variant,,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000527747,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;RHCE,intron_variant,,ENST00000533771,;							LOW	585/1254		RHCE_HUMAN			Transcript			.	ENSP00000294413	8.24E-06	CCDS30635.1			1	
ZNF8	0	LGGM	GRCh37	19	58797167	58797167	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	4	.	.	ENST00000196548.5:c.151C>A	p.Arg51Ser	p.R51S	ENST00000196548		51	Cgt/Agt	0	1	1	UPI0000185FEA	0	getma.org/pdb.php?prot=ZNF8_HUMAN&from=25&to=65&var=R51S	ENST00000196548		ENSG00000083842	13154		52	2.76		Uniprot_gn	p.R51S		ZNF8		SNV							ENST00000196548	protein_coding	getma.org/?cm=var&var=hg19,19,58797167,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF186,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		R/S		A	medium	282/2211		getma.org/?cm=msa&ty=f&p=ZNF8_HUMAN&rb=25&re=65&var=R51S	deleterious(0)	B4DSF4_HUMAN			YES	ZNF8,missense_variant,p.Arg51Ser,ENST00000196548,;ZNF8,missense_variant,p.Arg51Ser,ENST00000608843,NM_021089.2;AC010642.1,3_prime_UTR_variant,,ENST00000591325,;CTD-3138B18.4,3_prime_UTR_variant,,ENST00000600029,;							MODERATE	151/1728	R51S	ZNF8_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000196548		CCDS12974.1			1	
VWF	0	LGGM	GRCh37	12	6128346	6128346	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000261405.5:c.4238C>A	p.Pro1413Gln	p.P1413Q	ENST00000261405	NM_000552.3	1413	cCg/cAg	0	1	1	UPI00001AE7EE	0	getma.org/pdb.php?prot=VWF_HUMAN&from=1277&to=1454&var=P1413Q	ENST00000261405		ENSG00000110799	12726		26	3.91		HGNC	p.P1413Q		VWF		SNV			1				ENST00000261405	protein_coding	getma.org/?cm=var&var=hg19,12,6128346,G,T&fts=all		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		P/Q		T	high	4493/8838		getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=1277&re=1454&var=P1413Q	deleterious(0)	H2DLA2_HUMAN			YES	VWF,missense_variant,p.Pro1413Gln,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;							MODERATE	4238/8442	P1413Q	VWF_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000261405		CCDS8539.1			1	
MYH4	0	LGGM	GRCh37	17	10355599	10355599	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	4	.	.	ENST00000255381.2:c.3397C>A	p.Arg1133=	p.R1133=	ENST00000255381	NM_017533.2	1133	Cgg/Agg	0	1	1	UPI000013CEAB	0		ENST00000255381		ENSG00000264424	7574		50			HGNC	p.R1133R		MYH4		SNV							ENST00000255381	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,Low_complexity_(Seg):seg,Superfamily_domains:SSF90257		R		T		3508/6016							YES	MYH4,synonymous_variant,p.=,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							LOW	3397/5820		MYH4_HUMAN			Transcript			.	ENSP00000255381		CCDS11154.1			1	
CBY1	0	LGGM	GRCh37	22	39069227	39069227	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000396811.2:c.367C>A	p.Arg123=	p.R123=	ENST00000396811	NM_001002880.1	123	Cgg/Agg	0	1		UPI0000128720	0		ENST00000216029		ENSG00000100211	1307		18			HGNC	p.R123R		CBY1		SNV							ENST00000216029	protein_coding			hmmpanther:PTHR21533,hmmpanther:PTHR21533:SF20		R		A		501/1133				B0QY54_HUMAN,B0QY53_HUMAN				CBY1,synonymous_variant,p.=,ENST00000396811,NM_001002880.1;CBY1,synonymous_variant,p.=,ENST00000216029,NM_015373.3;CBY1,downstream_gene_variant,,ENST00000416285,;CBY1,downstream_gene_variant,,ENST00000411557,;RP3-508I15.9,intron_variant,,ENST00000444381,;RP3-508I15.9,intron_variant,,ENST00000431924,;RP3-508I15.9,upstream_gene_variant,,ENST00000422408,;RP3-508I15.9,downstream_gene_variant,,ENST00000412067,;RP3-508I15.10,upstream_gene_variant,,ENST00000423346,;CBY1,non_coding_transcript_exon_variant,,ENST00000489847,;CBY1,downstream_gene_variant,,ENST00000492576,;CBY1,downstream_gene_variant,,ENST00000485501,;CBY1,downstream_gene_variant,,ENST00000475924,;CBY1,downstream_gene_variant,,ENST00000492537,;CBY1,downstream_gene_variant,,ENST00000467118,;							LOW	367/381		CBY1_HUMAN			Transcript			.	ENSP00000216029		CCDS13974.1			1	
SEMA7A	0	LGGM	GRCh37	15	74711275	74711275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000261918.4:c.197G>T	p.Arg66Leu	p.R66L	ENST00000261918	NM_003612.3	66	cGg/cTg	0	1	1	UPI00000312F0	0	getma.org/pdb.php?prot=SEM7A_HUMAN&from=53&to=490&var=R66L	ENST00000261918		ENSG00000138623	10741		25	1.415		HGNC	p.R66L		SEMA7A		SNV			1				ENST00000543145	protein_coding	getma.org/?cm=var&var=hg19,15,74711275,C,A&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF67,Superfamily_domains:SSF101912		R/L		A	low	746/3885		getma.org/?cm=msa&ty=f&p=SEM7A_HUMAN&rb=53&re=490&var=R66L	tolerated(0.33)	H3BMF9_HUMAN,F5GYX3_HUMAN,B3KMH6_HUMAN			YES	SEMA7A,missense_variant,p.Arg66Leu,ENST00000261918,NM_003612.3;SEMA7A,missense_variant,p.Arg66Leu,ENST00000543145,NM_001146029.1;SEMA7A,5_prime_UTR_variant,,ENST00000542748,NM_001146030.1;SEMA7A,5_prime_UTR_variant,,ENST00000567345,;							MODERATE	197/2001	R66L	SEM7A_HUMAN			Transcript		benign(0.009)	.	ENSP00000261918		CCDS10262.1			1	
IL1R2	0	LGGM	GRCh37	2	102641053	102641053	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	4	.	.	ENST00000332549.3:c.810C>A	p.Thr270=	p.T270=	ENST00000332549	NM_004633.3	270	acC/acA	0	1	1	UPI0000001C78	0		ENST00000332549		ENSG00000115590	5994		13			HGNC	p.T270T		IL1R2		SNV							ENST00000393414	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF3,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726		T		A		1039/1578				C9JNR0_HUMAN			YES	IL1R2,synonymous_variant,p.=,ENST00000332549,NM_004633.3;IL1R2,synonymous_variant,p.=,ENST00000393414,;IL1R2,synonymous_variant,p.=,ENST00000441002,NM_001261419.1;IL1R2,downstream_gene_variant,,ENST00000457817,;IL1R2,non_coding_transcript_exon_variant,,ENST00000485335,;IL1R2,non_coding_transcript_exon_variant,,ENST00000474085,;							LOW	810/1197		IL1R2_HUMAN			Transcript			.	ENSP00000330959		CCDS2054.1			1	
COL14A1	0	LGGM	GRCh37	8	121219315	121219315	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000297848.3:c.1173G>T	p.Arg391Ser	p.R391S	ENST00000297848	NM_021110.2	391	agG/agT	0	1	1	UPI000046D377	0	getma.org/pdb.php?prot=COEA1_HUMAN&from=354&to=433&var=R391S	ENST00000297848		ENSG00000187955	2191		30	0.6		HGNC	p.R296S		COL14A1		SNV			1				ENST00000247781	protein_coding	getma.org/?cm=var&var=hg19,8,121219315,G,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/S		T	neutral	1443/6466		getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=354&re=433&var=R391S	tolerated(0.86)				YES	COL14A1,missense_variant,p.Arg391Ser,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg296Ser,ENST00000247781,;COL14A1,missense_variant,p.Arg391Ser,ENST00000309791,;COL14A1,missense_variant,p.Arg391Ser,ENST00000537875,;COL14A1,missense_variant,p.Arg204Ser,ENST00000434620,;COL14A1,missense_variant,p.Arg148Ser,ENST00000523142,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,missense_variant,p.Arg391Ser,ENST00000498051,;							MODERATE	1173/5391	R391S	COEA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297848		CCDS34938.1			1	
UBAP2	0	LGGM	GRCh37	9	33923009	33923009	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000379238.1:c.3027C>A	p.Thr1009=	p.T1009=	ENST00000379238		1009	acC/acA	0	1		UPI0000140784	0		ENST00000360802		ENSG00000137073	14185		30			HGNC	p.T742T		UBAP2		SNV							ENST00000379239	protein_coding			hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17,Low_complexity_(Seg):seg		T		T		3140/4284				Q5JV03_HUMAN				UBAP2,synonymous_variant,p.=,ENST00000379238,;UBAP2,synonymous_variant,p.=,ENST00000360802,NM_018449.2;UBAP2,synonymous_variant,p.=,ENST00000449054,;UBAP2,synonymous_variant,p.=,ENST00000379239,NM_001282529.1;UBAP2,synonymous_variant,p.=,ENST00000539807,;UBAP2,synonymous_variant,p.=,ENST00000379235,;UBE2R2,downstream_gene_variant,,ENST00000263228,NM_017811.3;UBAP2,downstream_gene_variant,,ENST00000418786,;UBAP2,downstream_gene_variant,,ENST00000474372,;UBAP2,downstream_gene_variant,,ENST00000488443,;							LOW	3027/3360		UBAP2_HUMAN			Transcript			.	ENSP00000354039		CCDS6547.1			1	
CEP57	0	LGGM	GRCh37	11	95561151	95561151	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000325542.5:c.1087G>T	p.Val363Phe	p.V363F	ENST00000325542	NM_001243776.1	363	Gtc/Ttc	0	1	1	UPI0000070D0B	0	NA	ENST00000325542		ENSG00000166037	30794		39	1.61		HGNC	p.V363F		CEP57		SNV			1				ENST00000325542	protein_coding	getma.org/?cm=var&var=hg19,11,95561151,G,T&fts=all		Pfam_domain:PF06657,hmmpanther:PTHR19336,hmmpanther:PTHR19336:SF11		V/F		T	low	1325/3178		getma.org/?cm=msa&ty=f&p=CEP57_HUMAN&rb=347&re=421&var=V363F	deleterious(0.01)	F5H1B0_HUMAN,F5GYW0_HUMAN			YES	CEP57,missense_variant,p.Val363Phe,ENST00000325542,NM_001243776.1,NM_014679.4;CEP57,missense_variant,p.Val337Phe,ENST00000325486,NM_001243777.1;CEP57,missense_variant,p.Val354Phe,ENST00000541150,;CEP57,missense_variant,p.Val336Phe,ENST00000537677,;CEP57,missense_variant,p.Val153Phe,ENST00000535224,;CEP57,missense_variant,p.Val122Phe,ENST00000537093,;MTMR2,downstream_gene_variant,,ENST00000393223,NM_001243571.1,NM_201278.2;MTMR2,downstream_gene_variant,,ENST00000346299,NM_016156.5;CEP57,downstream_gene_variant,,ENST00000538658,;CEP57,3_prime_UTR_variant,,ENST00000540830,;CEP57,3_prime_UTR_variant,,ENST00000539855,;CEP57,non_coding_transcript_exon_variant,,ENST00000538158,;AP001877.1,upstream_gene_variant,,ENST00000542426,;							MODERATE	1087/1503	V363F	CEP57_HUMAN			Transcript		possibly_damaging(0.745)	.	ENSP00000317902		CCDS8304.1			1	
NPC1	0	LGGM	GRCh37	18	21136209	21136209	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000269228.5:c.1324C>A	p.Gln442Lys	p.Q442K	ENST00000269228	NM_000271.4	442	Cag/Aag	0	1	1	UPI000013D80F	0	NA	ENST00000269228		ENSG00000141458	7897		41	1.39		HGNC	p.Q442K		NPC1		SNV			1				ENST00000269228	protein_coding	getma.org/?cm=var&var=hg19,18,21136209,G,T&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		Q/K		T	low	1879/5157		getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=401&re=600&var=Q442K	tolerated(0.26)				YES	NPC1,missense_variant,p.Gln442Lys,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Gln203Lys,ENST00000591051,;NPC1,missense_variant,p.Gln192Lys,ENST00000412552,;NPC1,splice_region_variant,,ENST00000540608,;NPC1,upstream_gene_variant,,ENST00000590301,;							MODERATE	1324/3837	Q442K	NPC1_HUMAN			Transcript		benign(0.033)	.	ENSP00000269228		CCDS11878.1			1	
FLII	0	LGGM	GRCh37	17	18154190	18154190	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000327031.4:c.1738C>A	p.Arg580=	p.R580=	ENST00000327031	NM_002018.3	580	Cgg/Agg	0	1	1	UPI0000001284	0		ENST00000327031		ENSG00000177731	3750		38			HGNC	p.R579R		FLII		SNV			1				ENST00000578558	protein_coding			Gene3D:3.40.20.10,Pfam_domain:PF00626,Prints_domain:PR00597,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF16,SMART_domains:SM00262,Superfamily_domains:SSF55753		R		T		1964/4338				K7EP37_HUMAN,K7EP27_HUMAN			YES	FLII,synonymous_variant,p.=,ENST00000327031,NM_002018.3;FLII,synonymous_variant,p.=,ENST00000545457,NM_001256265.1;FLII,synonymous_variant,p.=,ENST00000379450,;FLII,synonymous_variant,p.=,ENST00000579294,NM_001256264.1;FLII,synonymous_variant,p.=,ENST00000578558,;FLII,intron_variant,,ENST00000577485,;FLII,upstream_gene_variant,,ENST00000577398,;FLII,downstream_gene_variant,,ENST00000488932,;FLII,downstream_gene_variant,,ENST00000473425,;FLII,downstream_gene_variant,,ENST00000581349,;FLII,downstream_gene_variant,,ENST00000584444,;FLII,3_prime_UTR_variant,,ENST00000578101,;FLII,non_coding_transcript_exon_variant,,ENST00000496727,;FLII,downstream_gene_variant,,ENST00000461110,;FLII,downstream_gene_variant,,ENST00000478416,;FLII,downstream_gene_variant,,ENST00000488221,;FLII,upstream_gene_variant,,ENST00000465046,;FLII,upstream_gene_variant,,ENST00000459958,;FLII,upstream_gene_variant,,ENST00000577402,;FLII,upstream_gene_variant,,ENST00000580453,;FLII,upstream_gene_variant,,ENST00000487693,;FLII,upstream_gene_variant,,ENST00000493600,;FLII,upstream_gene_variant,,ENST00000581858,;FLII,upstream_gene_variant,,ENST00000474265,;FLII,downstream_gene_variant,,ENST00000577626,;FLII,upstream_gene_variant,,ENST00000487369,;FLII,upstream_gene_variant,,ENST00000580966,;FLII,upstream_gene_variant,,ENST00000493401,;FLII,downstream_gene_variant,,ENST00000581401,;							LOW	1738/3810		FLII_HUMAN			Transcript			.	ENSP00000324573		CCDS11192.1			1	
CPB1	0	LGGM	GRCh37	3	148577775	148577775	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000491148.1:c.1240G>T	p.Glu414Ter	p.E414*	ENST00000491148		414	Gaa/Taa	0	1		UPI00001271CD	0	NA	ENST00000282957		ENSG00000153002	2299		40	0		HGNC	p.E414X		CPB1		SNV							ENST00000282957	protein_coding	getma.org/?cm=var&var=hg19,3,148577775,G,T&fts=all		Gene3D:3.40.630.10,hmmpanther:PTHR11705,hmmpanther:PTHR11705:SF20,Superfamily_domains:SSF53187		E/*		T	NA	1263/1458		NA		Q68DJ8_HUMAN,C9JXS3_HUMAN,C9J5C4_HUMAN				CPB1,stop_gained,p.Glu414Ter,ENST00000491148,;CPB1,stop_gained,p.Glu414Ter,ENST00000282957,NM_001871.2;RP11-680B3.2,intron_variant,,ENST00000488190,;CPB1,non_coding_transcript_exon_variant,,ENST00000498639,;CPB1,non_coding_transcript_exon_variant,,ENST00000476847,;CPB1,non_coding_transcript_exon_variant,,ENST00000473621,;							HIGH	1240/1254	E414*	CBPB1_HUMAN			Transcript			.	ENSP00000282957		CCDS33874.1			1	
SEZ6L2	0	LGGM	GRCh37	16	29906729	29906729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000308713.5:c.704G>T	p.Gly235Val	p.G235V	ENST00000308713	NM_001114099.2	235	gGg/gTg	0	1	1	UPI0000366B1B	0	NA	ENST00000308713		ENSG00000174938	30844		19	1.1		HGNC	p.G165V		SEZ6L2		SNV							ENST00000350527	protein_coding	getma.org/?cm=var&var=hg19,16,29906729,C,A&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR19325:SF16,hmmpanther:PTHR19325,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		G/V		A	low	1232/3801		getma.org/?cm=msa&ty=f&p=SE6L2_HUMAN&rb=173&re=283&var=G235V	tolerated(0.39)	B3KNF3_HUMAN			YES	SEZ6L2,missense_variant,p.Gly235Val,ENST00000308713,NM_001114099.2,NM_201575.3;SEZ6L2,missense_variant,p.Gly165Val,ENST00000350527,NM_012410.3,NM_001243332.1;SEZ6L2,missense_variant,p.Gly191Val,ENST00000537485,NM_001243333.1;SEZ6L2,intron_variant,,ENST00000346932,NM_001114100.2;ASPHD1,upstream_gene_variant,,ENST00000483405,;ASPHD1,upstream_gene_variant,,ENST00000563177,;SEZ6L2,downstream_gene_variant,,ENST00000568380,;SEZ6L2,non_coding_transcript_exon_variant,,ENST00000562159,;							MODERATE	704/2733	G235V	SE6L2_HUMAN			Transcript		possibly_damaging(0.744)	.	ENSP00000312550		CCDS10659.1			1	
NGLY1	0	LGGM	GRCh37	3	25805557	25805557	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000280700.5:c.492G>T	p.Thr164=	p.T164=	ENST00000280700	NM_018297.3	164	acG/acT	0	1	1	UPI0000001239	0		ENST00000280700		ENSG00000151092	17646		49			HGNC	p.T164T		NGLY1		SNV			1				ENST00000396649	protein_coding			hmmpanther:PTHR12143,hmmpanther:PTHR12143:SF19		T		A		653/2473				C9JU75_HUMAN			YES	NGLY1,splice_region_variant,p.=,ENST00000428257,NM_001145293.1;NGLY1,splice_region_variant,p.=,ENST00000280700,NM_018297.3;NGLY1,splice_region_variant,p.=,ENST00000308710,;NGLY1,splice_region_variant,p.=,ENST00000417874,NM_001145294.1;NGLY1,splice_region_variant,p.=,ENST00000396649,NM_001145295.1;NGLY1,splice_region_variant,p.=,ENST00000422724,;NGLY1,splice_region_variant,p.=,ENST00000427041,;AC092798.1,downstream_gene_variant,,ENST00000577400,;NGLY1,downstream_gene_variant,,ENST00000461491,;NGLY1,splice_region_variant,,ENST00000493324,;NGLY1,splice_region_variant,p.=,ENST00000280699,;							LOW	492/1965		NGLY1_HUMAN			Transcript			.	ENSP00000280700		CCDS33719.1			1	
NWD1	0	LGGM	GRCh37	19	16899944	16899944	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000524140.2:c.2883C>A	p.Ile961=	p.I961=	ENST00000524140	NM_001007525.3	961	atC/atA	0	1		UPI0001AE63B7	0		ENST00000552788		ENSG00000188039	27619		43			HGNC	p.I755I	rs757244606	NWD1		SNV							ENST00000523826	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273,SMART_domains:SM00320,Superfamily_domains:SSF50998		I		A		2883/6964	1.50E-05			E9PBV1_HUMAN				NWD1,synonymous_variant,p.=,ENST00000524140,NM_001007525.3;NWD1,synonymous_variant,p.=,ENST00000552788,;NWD1,synonymous_variant,p.=,ENST00000549814,;NWD1,synonymous_variant,p.=,ENST00000523826,;NWD1,synonymous_variant,p.=,ENST00000379808,;NWD1,synonymous_variant,p.=,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							LOW	2883/4695		NWD1_HUMAN			Transcript			.	ENSP00000447224	8.24E-06				1	
LARS2	0	LGGM	GRCh37	3	45583363	45583363	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000415258.1:c.2447G>T	p.Trp816Leu	p.W816L	ENST00000415258		816	tGg/tTg	0	1		UPI0000001297	0	getma.org/pdb.php?prot=SYLM_HUMAN&from=725&to=867&var=W816L	ENST00000265537		ENSG00000011376	17095		18	1.41		HGNC	p.W816L		LARS2		SNV			1				ENST00000265537	protein_coding	getma.org/?cm=var&var=hg19,3,45583363,G,T&fts=all		hmmpanther:PTHR11946:SF7,hmmpanther:PTHR11946,TIGRFAM_domain:TIGR00396,Gene3D:1.10.730.10,Pfam_domain:PF08264,Superfamily_domains:SSF47323		W/L		T	low	2709/4281		getma.org/?cm=msa&ty=f&p=SYLM_HUMAN&rb=725&re=867&var=W816L	tolerated(0.07)	Q9BQR0_HUMAN,C9JYR8_HUMAN				LARS2,missense_variant,p.Trp816Leu,ENST00000415258,;LARS2,missense_variant,p.Trp816Leu,ENST00000265537,NM_015340.3;LARS2,missense_variant,p.Trp773Leu,ENST00000414984,;LARS2,non_coding_transcript_exon_variant,,ENST00000485461,;LARS2,non_coding_transcript_exon_variant,,ENST00000474585,;LARS2,downstream_gene_variant,,ENST00000467936,;							MODERATE	2447/2712	W816L	SYLM_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000265537		CCDS2728.1			1	
TFIP11	0	LGGM	GRCh37	22	26895381	26895381	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000407690.1:c.1018C>A	p.Arg340=	p.R340=	ENST00000407690	NM_012143.2	340	Cgg/Agg	0	1		UPI0000137191	0		ENST00000405938		ENSG00000100109	17165		36			HGNC	p.R340R		TFIP11		SNV							ENST00000407690	protein_coding			hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,PIRSF_domain:PIRSF017706		R		T		1373/2896				F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN				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,incomplete_terminal_codon_variant,p.=,ENST00000450493,;SRRD,downstream_gene_variant,,ENST00000215917,NM_001013694.2;TFIP11,downstream_gene_variant,,ENST00000496523,;TFIP11,upstream_gene_variant,,ENST00000492137,;TFIP11,upstream_gene_variant,,ENST00000481357,;TFIP11,downstream_gene_variant,,ENST00000493698,;							LOW	1018/2514		TFP11_HUMAN			Transcript			.	ENSP00000384297		CCDS13838.1			1	
GLRA4	0	LGGM	GRCh37	X	102979195	102979195	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000372617.4:c.305G>T	p.Trp102Leu	p.W102L	ENST00000372617	NM_001024452.2	102	tGg/tTg	0	1	1	UPI000188140C	0	getma.org/pdb.php?prot=GLRA4_HUMAN&from=44&to=255&var=W102L	ENST00000372617		ENSG00000188828	31715		33	3.51		HGNC	p.W102L		GLRA4		SNV							ENST00000372617	protein_coding	getma.org/?cm=var&var=hg19,X,102979195,C,A&fts=all		hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR00252		W/L		A	high	726/1795		getma.org/?cm=msa&ty=f&p=GLRA4_HUMAN&rb=44&re=255&var=W102L	deleterious(0)				YES	GLRA4,missense_variant,p.Trp102Leu,ENST00000372617,NM_001024452.2;GLRA4,upstream_gene_variant,,ENST00000469567,;GLRA4,3_prime_UTR_variant,,ENST00000436213,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;							MODERATE	305/1254	W102L	GLRA4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361700		CCDS43980.2			1	
DMRTA1	0	LGGM	GRCh37	9	22451814	22451814	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000325870.2:c.1419C>A	p.Ala473=	p.A473=	ENST00000325870	NM_022160.2	473	gcC/gcA	0	1	1	UPI000014178A	0		ENST00000325870		ENSG00000176399	13826		26			HGNC	p.A473A		DMRTA1		SNV							ENST00000325870	protein_coding			hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF13		A		A		1644/5569							YES	DMRTA1,synonymous_variant,p.=,ENST00000325870,NM_022160.2;							LOW	1419/1515		DMRTA_HUMAN			Transcript			.	ENSP00000319651		CCDS6514.1			1	
MARCH6	0	LGGM	GRCh37	5	10378942	10378942	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000274140.5:c.188C>A	p.Pro63Gln	p.P63Q	ENST00000274140	NM_005885.3	63	cCa/cAa	0	1	1	UPI00001B94D6	0	NA	ENST00000274140		ENSG00000145495	30550		39	2.58		HGNC	p.P63Q		MARCH6		SNV							ENST00000502795	protein_coding	getma.org/?cm=var&var=hg19,5,10378942,C,A&fts=all		hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145		P/Q		A	medium	320/9569		getma.org/?cm=msa&ty=f&p=MARH6_HUMAN&rb=56&re=255&var=P63Q	deleterious(0)				YES	MARCH6,missense_variant,p.Pro63Gln,ENST00000274140,NM_005885.3;MARCH6,missense_variant,p.Pro63Gln,ENST00000449913,NM_001270660.1;MARCH6,intron_variant,,ENST00000503788,NM_001270661.1;MARCH6,splice_region_variant,,ENST00000507863,;MARCH6,splice_region_variant,,ENST00000510872,;MARCH6,missense_variant,p.Pro63Gln,ENST00000502795,;MARCH6,splice_region_variant,,ENST00000511802,;							MODERATE	188/2733	P63Q	MARH6_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000274140		CCDS34135.1			1	
TOM1L1	0	LGGM	GRCh37	17	52993163	52993163	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	4	.	.	ENST00000575882.1:c.660C>A	p.Ser220=	p.S220=	ENST00000575882	NM_005486.2	220	tcC/tcA	0	1	1	UPI000003E7E0	0		ENST00000575882		ENSG00000141198	11983		70			HGNC	p.S143S		TOM1L1		SNV							ENST00000576932	protein_coding			PROSITE_profiles:PS50909,hmmpanther:PTHR13856:SF28,hmmpanther:PTHR13856,Pfam_domain:PF03127,Gene3D:1.20.58.160,PIRSF_domain:PIRSF036948,Superfamily_domains:SSF89009		S		A		1013/2500				I3L4N3_HUMAN,I3L1Q1_HUMAN,B7Z9E2_HUMAN			YES	TOM1L1,synonymous_variant,p.=,ENST00000575882,NM_005486.2;TOM1L1,synonymous_variant,p.=,ENST00000570371,;TOM1L1,synonymous_variant,p.=,ENST00000572405,;TOM1L1,synonymous_variant,p.=,ENST00000445275,;TOM1L1,synonymous_variant,p.=,ENST00000348161,;TOM1L1,synonymous_variant,p.=,ENST00000575333,;TOM1L1,synonymous_variant,p.=,ENST00000540336,;TOM1L1,synonymous_variant,p.=,ENST00000536554,;TOM1L1,synonymous_variant,p.=,ENST00000572158,;TOM1L1,synonymous_variant,p.=,ENST00000572576,;TOM1L1,synonymous_variant,p.=,ENST00000575909,;TOM1L1,synonymous_variant,p.=,ENST00000570499,;TOM1L1,downstream_gene_variant,,ENST00000572298,;TOM1L1,downstream_gene_variant,,ENST00000573607,;TOM1L1,synonymous_variant,p.=,ENST00000576932,;TOM1L1,3_prime_UTR_variant,,ENST00000571319,;TOM1L1,3_prime_UTR_variant,,ENST00000570965,;TOM1L1,non_coding_transcript_exon_variant,,ENST00000570977,;TOM1L1,downstream_gene_variant,,ENST00000572360,;							LOW	660/1431		TM1L1_HUMAN			Transcript			.	ENSP00000460823		CCDS11582.1			1	
POP1	0	LGGM	GRCh37	8	99146779	99146779	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000401707.2:c.903C>A	p.Pro301=	p.P301=	ENST00000401707	NM_001145860.1	301	ccC/ccA	0	1		UPI0000131F33	0		ENST00000349693		ENSG00000104356	30129		29			HGNC	p.P301P		POP1		SNV			1				ENST00000401707	protein_coding			hmmpanther:PTHR22731,hmmpanther:PTHR22731:SF3		P		A		931/3244				E5RK39_HUMAN				POP1,synonymous_variant,p.=,ENST00000401707,NM_001145860.1,NM_001145861.1;POP1,synonymous_variant,p.=,ENST00000349693,NM_015029.2;POP1,downstream_gene_variant,,ENST00000522319,;							LOW	903/3075		POP1_HUMAN			Transcript			.	ENSP00000339529		CCDS6277.1			1	
MERTK	0	LGGM	GRCh37	2	112686743	112686743	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000295408.4:c.108G>T	p.Pro36=	p.P36=	ENST00000295408		36	ccG/ccT	0	1	1	UPI000013E252	0		ENST00000295408		ENSG00000153208	7027		38			HGNC	p.P36P		MERTK		SNV			1				ENST00000295408	protein_coding					P		T		365/3954				Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN			YES	MERTK,synonymous_variant,p.=,ENST00000295408,;MERTK,synonymous_variant,p.=,ENST00000421804,NM_006343.2;MERTK,intron_variant,,ENST00000409780,;RN7SL297P,upstream_gene_variant,,ENST00000483161,;MERTK,synonymous_variant,p.=,ENST00000439966,;							LOW	108/3000		MERTK_HUMAN			Transcript			.	ENSP00000295408		CCDS2094.1			1	
RGP1	0	LGGM	GRCh37	9	35752817	35752817	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000378078.4:c.1122C>A	p.Pro374=	p.P374=	ENST00000378078	NM_001080496.2	374	ccC/ccA	0	1	1	UPI0000139519	0		ENST00000378078		ENSG00000107185	21965		29			HGNC	p.P374P		RGP1		SNV							ENST00000378078	protein_coding			hmmpanther:PTHR12507:SF3,hmmpanther:PTHR12507		P		A		1263/7018							YES	RGP1,synonymous_variant,p.=,ENST00000378078,NM_001080496.2;RGP1,synonymous_variant,p.=,ENST00000456972,;GBA2,upstream_gene_variant,,ENST00000378094,;GBA2,upstream_gene_variant,,ENST00000378103,NM_020944.2;GBA2,upstream_gene_variant,,ENST00000545786,;MSMP,downstream_gene_variant,,ENST00000436428,NM_001044264.2;RP11-112J3.15,downstream_gene_variant,,ENST00000425499,;GBA2,upstream_gene_variant,,ENST00000489025,;MSMP,downstream_gene_variant,,ENST00000414286,;RGP1,intron_variant,,ENST00000496906,;							LOW	1122/1176		RGP1_HUMAN			Transcript			.	ENSP00000367318		CCDS47964.2			1	
TOP1MT	0	LGGM	GRCh37	8	144411549	144411549	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	4	.	.	ENST00000329245.4:c.331C>A	p.Arg111=	p.R111=	ENST00000329245	NM_052963.2	111	Cgg/Agg	0	1	1	UPI000013716D	0		ENST00000329245		ENSG00000184428	29787		50			HGNC	p.R80R		TOP1MT		SNV							ENST00000518007	protein_coding			hmmpanther:PTHR10290,Gene3D:1oisA01,Pfam_domain:PF02919,Superfamily_domains:SSF56741		R		T		366/1958				E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN			YES	TOP1MT,synonymous_variant,p.=,ENST00000523676,;TOP1MT,synonymous_variant,p.=,ENST00000521193,NM_001258446.1;TOP1MT,synonymous_variant,p.=,ENST00000329245,NM_052963.2;TOP1MT,synonymous_variant,p.=,ENST00000519148,NM_001258447.1;TOP1MT,synonymous_variant,p.=,ENST00000519139,;TOP1MT,synonymous_variant,p.=,ENST00000519591,;TOP1MT,synonymous_variant,p.=,ENST00000522041,;TOP1MT,synonymous_variant,p.=,ENST00000518760,;TOP1MT,synonymous_variant,p.=,ENST00000520950,;TOP1MT,synonymous_variant,p.=,ENST00000518007,;TOP1MT,downstream_gene_variant,,ENST00000522043,;TOP1MT,downstream_gene_variant,,ENST00000524092,;TOP1MT,synonymous_variant,p.=,ENST00000518951,;TOP1MT,synonymous_variant,p.=,ENST00000522121,;TOP1MT,synonymous_variant,p.=,ENST00000523417,;							LOW	331/1806		TOP1M_HUMAN			Transcript			.	ENSP00000328835		CCDS6400.1			1	
PF4	0	LGGM	GRCh37	4	74846929	74846929	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000296029.3:c.298G>T	p.Glu100Ter	p.E100*	ENST00000296029	NM_002619.3	100	Gag/Tag	0	1	1	UPI000002E1F5	0	NA	ENST00000296029		ENSG00000163737	8861		39	0		HGNC	p.E100X		PF4		SNV							ENST00000296029	protein_coding	getma.org/?cm=var&var=hg19,4,74846929,C,A&fts=all		hmmpanther:PTHR10179:SF38,hmmpanther:PTHR10179,Gene3D:2.40.50.40,Superfamily_domains:SSF54117,Prints_domain:PR00436		E/*		A	NA	469/604		NA					YES	PF4,stop_gained,p.Glu100Ter,ENST00000296029,NM_002619.3;							HIGH	298/306	E100*	PLF4_HUMAN			Transcript			.	ENSP00000296029		CCDS3562.1			1	
ASAP2	0	LGGM	GRCh37	2	9541422	9541422	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000281419.3:c.2843G>T	p.Arg948Leu	p.R948L	ENST00000281419	NM_003887.2	948	cGg/cTg	0	1	1	UPI0000073459	0	getma.org/pdb.php?prot=ASAP2_HUMAN&from=944&to=1006&var=R948L	ENST00000281419		ENSG00000151693	2721		11	1.775		HGNC	p.R948L		ASAP2		SNV							ENST00000281419	protein_coding	getma.org/?cm=var&var=hg19,2,9541422,G,T&fts=all		Superfamily_domains:SSF50044,SMART_domains:SM00326,Gene3D:2.30.30.40,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF238,PROSITE_profiles:PS50002		R/L		T	low	3183/5712		getma.org/?cm=msa&ty=f&p=ASAP2_HUMAN&rb=944&re=1006&var=R948L	deleterious(0.02)	Q53RT9_HUMAN,Q53RS3_HUMAN,Q53R39_HUMAN			YES	ASAP2,missense_variant,p.Arg948Leu,ENST00000281419,NM_003887.2;ASAP2,missense_variant,p.Arg903Leu,ENST00000315273,NM_001135191.1;ITGB1BP1,downstream_gene_variant,,ENST00000360635,;ITGB1BP1,downstream_gene_variant,,ENST00000355346,NM_004763.3;ITGB1BP1,downstream_gene_variant,,ENST00000238091,NM_022334.3;ASAP2,downstream_gene_variant,,ENST00000491413,;ASAP2,non_coding_transcript_exon_variant,,ENST00000484590,;ITGB1BP1,downstream_gene_variant,,ENST00000483795,;							MODERATE	2843/3021	R948L	ASAP2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000281419		CCDS1661.1			1	
AHNAK2	0	LGGM	GRCh37	14	105422996	105422996	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000333244.5:c.244G>T	p.Gly82Trp	p.G82W	ENST00000333244	NM_138420.2	82	Ggg/Tgg	0	1	1	UPI00015BB2CA	0	getma.org/pdb.php?prot=AHNK2_HUMAN&from=1&to=200&var=G82W	ENST00000333244		ENSG00000185567	20125		25	1.79		HGNC	p.G82W		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105422996,C,A&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		G/W		A	low	364/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1&re=200&var=G82W					YES	AHNAK2,missense_variant,p.Gly82Trp,ENST00000333244,NM_138420.2;AHNAK2,upstream_gene_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,upstream_gene_variant,,ENST00000555544,;							MODERATE	244/17388	G82W	AHNK2_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000353114		CCDS45177.1			1	
PCDHA10	0	LGGM	GRCh37	5	140237036	140237036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000307360.5:c.1403C>A	p.Pro468Gln	p.P468Q	ENST00000307360	NM_018901.2	468	cCg/cAg	0	1	1	UPI00001273D3	0	getma.org/pdb.php?prot=PCDAA_HUMAN&from=459&to=555&var=P468Q	ENST00000307360		ENSG00000250120	8664		22	1.985		HGNC	p.P468Q		PCDHA10		SNV							ENST00000506939	protein_coding	getma.org/?cm=var&var=hg19,5,140237036,C,A&fts=all		Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		P/Q		A	medium	1403/5254		getma.org/?cm=msa&ty=f&p=PCDAA_HUMAN&rb=459&re=555&var=P468Q	deleterious_low_confidence(0.03)				YES	PCDHA10,missense_variant,p.Pro468Gln,ENST00000307360,NM_018901.2;PCDHA10,missense_variant,p.Pro468Gln,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;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,downstream_gene_variant,,ENST00000378122,NM_014005.3;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA14,upstream_gene_variant,,ENST00000506751,;							MODERATE	1403/2847	P468Q	PCDAA_HUMAN			Transcript		possibly_damaging(0.531)	.	ENSP00000304234		CCDS54921.1			1	
LONP1	0	LGGM	GRCh37	19	5699058	5699058	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	4	.	.	ENST00000360614.3:c.1665G>T	p.Val555=	p.V555=	ENST00000360614	NM_004793.3	555	gtG/gtT	0	1	1	UPI000012E7EF	0		ENST00000360614		ENSG00000196365	9479		7			HGNC	p.V359V		LONP1		SNV			1				ENST00000540670	protein_coding			HAMAP:MF_03120,hmmpanther:PTHR10046:SF23,hmmpanther:PTHR10046,Pfam_domain:PF00004,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00763,PIRSF_domain:PIRSF001174,SMART_domains:SM00382,Superfamily_domains:SSF52540		V		A		1823/3236				K7EKE6_HUMAN,F5GZ27_HUMAN			YES	LONP1,synonymous_variant,p.=,ENST00000360614,NM_004793.3;LONP1,synonymous_variant,p.=,ENST00000540670,NM_001276480.1;LONP1,synonymous_variant,p.=,ENST00000593119,NM_001276479.1;LONP1,synonymous_variant,p.=,ENST00000585374,;LONP1,synonymous_variant,p.=,ENST00000590729,;LONP1,synonymous_variant,p.=,ENST00000590206,;LONP1,upstream_gene_variant,,ENST00000589473,;LONP1,downstream_gene_variant,,ENST00000587365,;LONP1,3_prime_UTR_variant,,ENST00000590558,;LONP1,non_coding_transcript_exon_variant,,ENST00000587552,;LONP1,downstream_gene_variant,,ENST00000588589,;							LOW	1665/2880		LONM_HUMAN			Transcript			.	ENSP00000353826		CCDS12148.1			1	
EXOC7	0	LGGM	GRCh37	17	74093907	74093907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000335146.7:c.610C>A	p.Arg204Ser	p.R204S	ENST00000335146		204	Cgc/Agc	0	1	1	UPI00001AFC78	0	getma.org/pdb.php?prot=EXOC7_HUMAN&from=201&to=359&var=R204S	ENST00000335146		ENSG00000182473	23214		47	-0.345		HGNC	p.R204S		EXOC7		SNV							ENST00000411744	protein_coding	getma.org/?cm=var&var=hg19,17,74093907,G,T&fts=all		hmmpanther:PTHR12542,hmmpanther:PTHR12542:SF7,Superfamily_domains:SSF74788		R/S		T	neutral	664/3519		getma.org/?cm=msa&ty=f&p=EXOC7_HUMAN&rb=201&re=359&var=R204S	tolerated(0.72)	C9JME6_HUMAN,C9JKC2_HUMAN			YES	EXOC7,missense_variant,p.Arg204Ser,ENST00000607838,NM_001145299.2,NM_001145297.2,NM_001145298.2;EXOC7,missense_variant,p.Arg204Ser,ENST00000589210,NM_001013839.2;EXOC7,missense_variant,p.Arg204Ser,ENST00000332065,NM_015219.3;EXOC7,missense_variant,p.Arg204Ser,ENST00000335146,;EXOC7,missense_variant,p.Arg163Ser,ENST00000467929,;EXOC7,missense_variant,p.Arg204Ser,ENST00000405575,;EXOC7,missense_variant,p.Arg204Ser,ENST00000411744,;EXOC7,missense_variant,p.Arg159Ser,ENST00000357231,;EXOC7,missense_variant,p.Arg89Ser,ENST00000420116,;EXOC7,downstream_gene_variant,,ENST00000589507,;EXOC7,downstream_gene_variant,,ENST00000406660,NM_001282314.1;EXOC7,downstream_gene_variant,,ENST00000442951,;EXOC7,non_coding_transcript_exon_variant,,ENST00000405068,;EXOC7,upstream_gene_variant,,ENST00000592559,;							MODERATE	610/2208	R204S	EXOC7_HUMAN			Transcript		benign(0.022)	.	ENSP00000334100		CCDS45782.1			1	
CTTNBP2	0	LGGM	GRCh37	7	117368307	117368307	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000160373.3:c.3891G>A	p.Ala1297=	p.A1297=	ENST00000160373	NM_033427.2	1297	gcG/gcA	0	1	1	UPI000006E94A	0		ENST00000160373		ENSG00000077063	15679	8.64E-05	35			HGNC	p.A1297A	rs747636048	CTTNBP2		SNV							ENST00000160373	protein_coding			hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166		A		T		3983/5970	1.51E-05			Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,synonymous_variant,p.=,ENST00000160373,NM_033427.2;CTTNBP2,synonymous_variant,p.=,ENST00000446636,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,upstream_gene_variant,,ENST00000445366,;							LOW	3891/4992		CTTB2_HUMAN	0.000302		Transcript			.	ENSP00000160373	3.29E-05	CCDS5774.1			1	
CDC123	0	LGGM	GRCh37	10	12252321	12252321	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000281141.4:c.237G>T	p.Thr79=	p.T79=	ENST00000281141	NM_006023.2	79	acG/acT	0	1	1	UPI000006FE36	0		ENST00000281141		ENSG00000151465	16827		47			HGNC	p.T37T		CDC123		SNV							ENST00000455773	protein_coding			Pfam_domain:PF07065,PIRSF_domain:PIRSF007807,hmmpanther:PTHR15323,hmmpanther:PTHR15323:SF6		T		T		517/1542							YES	CDC123,splice_region_variant,p.=,ENST00000281141,NM_006023.2;CDC123,splice_region_variant,p.=,ENST00000378900,;CDC123,splice_region_variant,p.=,ENST00000429258,;CDC123,splice_region_variant,p.=,ENST00000442050,;CDC123,splice_region_variant,,ENST00000455773,;							LOW	237/1011		CD123_HUMAN			Transcript			.	ENSP00000281141		CCDS7090.1			1	
PROCA1	0	LGGM	GRCh37	17	27031379	27031379	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000301039.2:c.302C>A	p.Pro101His	p.P101H	ENST00000301039	NM_152465.1	101	cCt/cAt	0	1	1	UPI000006D0EE	0	NA	ENST00000301039		ENSG00000167525	28600		27	2.25		HGNC	p.P101H		PROCA1		SNV							ENST00000301039	protein_coding	getma.org/?cm=var&var=hg19,17,27031379,G,T&fts=all		hmmpanther:PTHR12253:SF14,hmmpanther:PTHR12253,Gene3D:1.20.90.10,Superfamily_domains:SSF48619		P/H		T	medium	496/1566		getma.org/?cm=msa&ty=f&p=PRCA1_HUMAN&rb=46&re=137&var=P129H	deleterious(0.03)	K7ESJ9_HUMAN			YES	PROCA1,missense_variant,p.Pro101His,ENST00000301039,NM_152465.1;PROCA1,missense_variant,p.Pro103His,ENST00000439862,;PROCA1,5_prime_UTR_variant,,ENST00000415329,;PROCA1,intron_variant,,ENST00000581289,;SUPT6H,downstream_gene_variant,,ENST00000314616,NM_003170.3;SUPT6H,downstream_gene_variant,,ENST00000347486,;PROCA1,non_coding_transcript_exon_variant,,ENST00000579650,;PROCA1,non_coding_transcript_exon_variant,,ENST00000584073,;PROCA1,non_coding_transcript_exon_variant,,ENST00000422880,;PROCA1,downstream_gene_variant,,ENST00000578097,;PROCA1,3_prime_UTR_variant,,ENST00000473751,;PROCA1,non_coding_transcript_exon_variant,,ENST00000495203,;SUPT6H,downstream_gene_variant,,ENST00000581510,;SUPT6H,downstream_gene_variant,,ENST00000583340,;							MODERATE	302/1011	P129H	PRCA1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000301039		CCDS11239.1			1	
RBM41	0	LGGM	GRCh37	X	106331921	106331921	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000372479.3:c.672G>T	p.Val224=	p.V224=	ENST00000372479	NM_018301.3	224	gtG/gtT	0	1	1	UPI000013CC0E	0		ENST00000372479		ENSG00000089682	25617		34			HGNC	p.V224V		RBM41		SNV							ENST00000372479	protein_coding			hmmpanther:PTHR16105,hmmpanther:PTHR16105:SF1		V		A		703/1662							YES	RBM41,synonymous_variant,p.=,ENST00000372487,NM_001171080.1;RBM41,synonymous_variant,p.=,ENST00000372479,NM_018301.3;RBM41,intron_variant,,ENST00000203616,;RBM41,intron_variant,,ENST00000434854,;RBM41,non_coding_transcript_exon_variant,,ENST00000485676,;RBM41,intron_variant,,ENST00000475556,;RBM41,intron_variant,,ENST00000495517,;							LOW	672/1242		RBM41_HUMAN			Transcript			.	ENSP00000361557		CCDS14526.1			1	
BTN3A3	0	LGGM	GRCh37	6	26444266	26444266	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000244519.2:c.167C>A	p.Pro56Gln	p.P56Q	ENST00000244519	NM_006994.4	56	cCg/cAg	0	1	1	UPI00000480EF	0	getma.org/pdb.php?prot=BT3A3_HUMAN&from=30&to=143&var=P56Q	ENST00000244519		ENSG00000111801	1140		49	2.625		HGNC	p.P14Q		BTN3A3		SNV							ENST00000487272	protein_coding	getma.org/?cm=var&var=hg19,6,26444266,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF45,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/Q		A	medium	410/3002		getma.org/?cm=msa&ty=f&p=BT3A3_HUMAN&rb=30&re=143&var=P56Q	deleterious(0)	D0FY33_HUMAN,C9JUV8_HUMAN,C9JQT8_HUMAN,C9JNZ3_HUMAN,C9J877_HUMAN,C9J3Q8_HUMAN			YES	BTN3A3,missense_variant,p.Pro56Gln,ENST00000244519,NM_006994.4;BTN3A3,missense_variant,p.Pro14Gln,ENST00000339789,;BTN3A3,missense_variant,p.Pro14Gln,ENST00000361232,NM_197974.2;BTN3A3,missense_variant,p.Pro56Gln,ENST00000496719,;BTN3A3,missense_variant,p.Pro14Gln,ENST00000487272,;BTN3A3,missense_variant,p.Pro14Gln,ENST00000490254,;BTN3A3,missense_variant,p.Pro14Gln,ENST00000471353,;BTN3A3,missense_variant,p.Pro56Gln,ENST00000494393,;BTN3A3,missense_variant,p.Pro14Gln,ENST00000487627,;BTN3A3,missense_variant,p.Pro38Gln,ENST00000482451,;BTN3A3,non_coding_transcript_exon_variant,,ENST00000480110,;BTN3A3,upstream_gene_variant,,ENST00000483179,;BTN3A3,downstream_gene_variant,,ENST00000474790,;BTN3A3,downstream_gene_variant,,ENST00000467524,;							MODERATE	167/1755	P56Q	BT3A3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000244519		CCDS4611.1			1	
EPHB6	0	LGGM	GRCh37	7	142564346	142564346	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000392957.2:c.1570C>A	p.Arg524Ser	p.R524S	ENST00000392957	NM_004445.4	524	Cgc/Agc	0	1	1	UPI00006635A8	0	getma.org/pdb.php?prot=EPHB6_HUMAN&from=489&to=572&var=R524S	ENST00000392957		ENSG00000106123	3396		18	1.545		HGNC	p.R524S		EPHB6		SNV							ENST00000392957	protein_coding	getma.org/?cm=var&var=hg19,7,142564346,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF300,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/S		A	low	2357/4043		getma.org/?cm=msa&ty=f&p=EPHB6_HUMAN&rb=489&re=572&var=R524S	deleterious(0.01)				YES	EPHB6,missense_variant,p.Arg524Ser,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,missense_variant,p.Arg524Ser,ENST00000442129,;EPHB6,missense_variant,p.Arg247Ser,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000359396,NM_018646.4;EPHB6,upstream_gene_variant,,ENST00000476059,;EPHB6,downstream_gene_variant,,ENST00000497095,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;TRPV6,downstream_gene_variant,,ENST00000487077,;TRPV6,downstream_gene_variant,,ENST00000485138,;TRPV6,downstream_gene_variant,,ENST00000463646,;EPHB6,upstream_gene_variant,,ENST00000486511,;EPHB6,upstream_gene_variant,,ENST00000471581,;							MODERATE	1570/3066	R524S	EPHB6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376684		CCDS5873.2			1	
CCKBR	0	LGGM	GRCh37	11	6292512	6292512	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000334619.2:c.1083G>T	p.Pro361=	p.P361=	ENST00000334619	NM_176875.3	361	ccG/ccT	0	1	1	UPI0000000C18	0		ENST00000334619		ENSG00000110148	1571		26			HGNC	p.P361P		CCKBR		SNV							ENST00000334619	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01822,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Superfamily_domains:SSF81321		P		T		1276/2121							YES	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,downstream_gene_variant,,ENST00000532396,;							LOW	1083/1344		GASR_HUMAN			Transcript			.	ENSP00000335544		CCDS7761.1			1	
APOB	0	LGGM	GRCh37	2	21229056	21229056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000233242.1:c.10684C>A	p.Leu3562Ile	p.L3562I	ENST00000233242	NM_000384.2	3562	Ctc/Atc	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		27	-1.1		HGNC	p.L3562I		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21229056,G,T&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		L/I		T	neutral	10812/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3440&re=4087&var=L3562I		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Leu3562Ile,ENST00000233242,NM_000384.2;							MODERATE	10684/13692	L3562I	APOB_HUMAN			Transcript		benign(0.002)	.	ENSP00000233242		CCDS1703.1			1	
ZC2HC1C	0	LGGM	GRCh37	14	75538041	75538041	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000524913.1:c.765C>A	p.Ala255=	p.A255=	ENST00000524913	NM_024643.2	255	gcC/gcA	0	1	1	UPI000059D27D	0		ENST00000524913		ENSG00000119703	20354		42			HGNC	p.A255A		ZC2HC1C		SNV							ENST00000439583	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14649		A		A		1254/2392				J3KMY6_HUMAN,G3V3E3_HUMAN,E9PNG2_HUMAN,E9PMG6_HUMAN,E9PJ43_HUMAN			YES	ZC2HC1C,synonymous_variant,p.=,ENST00000524913,NM_024643.2;ZC2HC1C,synonymous_variant,p.=,ENST00000238686,;ZC2HC1C,synonymous_variant,p.=,ENST00000439583,NM_001042430.1;ZC2HC1C,synonymous_variant,p.=,ENST00000532198,;ZC2HC1C,downstream_gene_variant,,ENST00000526130,;ACYP1,upstream_gene_variant,,ENST00000555463,;ZC2HC1C,downstream_gene_variant,,ENST00000534151,;ZC2HC1C,downstream_gene_variant,,ENST00000554763,;ZC2HC1C,downstream_gene_variant,,ENST00000525046,;ZC2HC1C,intron_variant,,ENST00000526748,;							LOW	765/1371		ZC21C_HUMAN			Transcript			.	ENSP00000435550		CCDS41972.1			1	
FN1	0	LGGM	GRCh37	2	216248749	216248749	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000354785.4:c.4888C>A	p.Arg1630=	p.R1630=	ENST00000354785		1630	Cga/Aga	0	1		UPI00001AEBF3	0		ENST00000359671		ENSG00000115414	3778		44			HGNC	p.R1539R		FN1		SNV			1				ENST00000359671	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,Superfamily_domains:SSF49265		R		T		4881/8524				Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,synonymous_variant,p.=,ENST00000354785,;FN1,synonymous_variant,p.=,ENST00000323926,NM_212482.1;FN1,synonymous_variant,p.=,ENST00000359671,;FN1,synonymous_variant,p.=,ENST00000336916,NM_212478.1,NM_002026.2;FN1,synonymous_variant,p.=,ENST00000421182,;FN1,synonymous_variant,p.=,ENST00000357009,;FN1,synonymous_variant,p.=,ENST00000346544,;FN1,synonymous_variant,p.=,ENST00000446046,;FN1,synonymous_variant,p.=,ENST00000345488,;FN1,synonymous_variant,p.=,ENST00000357867,NM_212474.1;FN1,synonymous_variant,p.=,ENST00000356005,NM_212476.1;FN1,synonymous_variant,p.=,ENST00000443816,;FN1,synonymous_variant,p.=,ENST00000432072,;FN1,synonymous_variant,p.=,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,non_coding_transcript_exon_variant,,ENST00000480737,;FN1,upstream_gene_variant,,ENST00000474036,;							LOW	4615/7161		FINC_HUMAN			Transcript			.	ENSP00000352696					1	
PCDHGA4	0	LGGM	GRCh37	5	140736640	140736640	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000571252.1:c.1873G>T	p.Glu625Ter	p.E625*	ENST00000571252	NM_018917.2	625	Gag/Tag	0	1	1	UPI0000070861	0	NA	ENST00000571252		ENSG00000262576	8702		31	0		HGNC	p.E625X		PCDHGA4		SNV							ENST00000571252	protein_coding	getma.org/?cm=var&var=hg19,5,140736640,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/*		T	NA	1873/4602		NA		Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA4,stop_gained,p.Glu625Ter,ENST00000571252,NM_018917.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2,NM_032096.1;							HIGH	1873/2796	E625*	PCDG4_HUMAN			Transcript			.	ENSP00000458570		CCDS58979.1			1	
PSTPIP2	0	LGGM	GRCh37	18	43579418	43579418	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000409746.5:c.500C>A	p.Pro167Gln	p.P167Q	ENST00000409746	NM_024430.3	167	cCg/cAg	0	1	1	UPI0000035DB3	0	NA	ENST00000409746		ENSG00000152229	9581		32	0.345		HGNC	p.P167Q		PSTPIP2		SNV							ENST00000409746	protein_coding	getma.org/?cm=var&var=hg19,18,43579418,G,T&fts=all		hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF9,Superfamily_domains:SSF103657		P/Q		T	neutral	572/3000		getma.org/?cm=msa&ty=f&p=PPIP2_HUMAN&rb=99&re=298&var=P167Q	tolerated(1)				YES	PSTPIP2,missense_variant,p.Pro167Gln,ENST00000409746,NM_024430.3;PSTPIP2,missense_variant,p.Pro167Gln,ENST00000589328,;PSTPIP2,non_coding_transcript_exon_variant,,ENST00000588801,;PSTPIP2,downstream_gene_variant,,ENST00000591729,;							MODERATE	500/1005	P167Q	PPIP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000387261		CCDS32820.2			1	
APOL3	0	LGGM	GRCh37	22	36556931	36556931	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000349314.2:c.9G>T	p.Leu3=	p.L3=	ENST00000349314	NM_145640.2	3	ctG/ctT	0	1	1	UPI0000141763	0		ENST00000349314		ENSG00000128284	14868		14			HGNC	p.L3L		APOL3		SNV							ENST00000432700	protein_coding			Cleavage_site_(Signalp):SignalP-noTM		L		A		47/2117							YES	APOL3,synonymous_variant,p.=,ENST00000349314,NM_145640.2;APOL3,5_prime_UTR_variant,,ENST00000397293,;APOL3,intron_variant,,ENST00000424878,;APOL3,intron_variant,,ENST00000397287,NM_145641.2;APOL3,intron_variant,,ENST00000361710,NM_145642.2;APOL3,upstream_gene_variant,,ENST00000531095,;APOL3,upstream_gene_variant,,ENST00000487423,;APOL3,upstream_gene_variant,,ENST00000534251,;APOL3,upstream_gene_variant,,ENST00000533061,;APOL3,upstream_gene_variant,,ENST00000485453,;APOL3,upstream_gene_variant,,ENST00000528740,;APOL3,upstream_gene_variant,,ENST00000525184,;APOL3,synonymous_variant,p.=,ENST00000432700,;APOL3,synonymous_variant,p.=,ENST00000422426,;APOL3,synonymous_variant,p.=,ENST00000397289,;APOL3,upstream_gene_variant,,ENST00000487355,;APOL3,upstream_gene_variant,,ENST00000426939,;APOL3,upstream_gene_variant,,ENST00000531195,;APOL3,upstream_gene_variant,,ENST00000530895,;APOL3,upstream_gene_variant,,ENST00000487783,;APOL3,upstream_gene_variant,,ENST00000472303,;							LOW	9/1209		APOL3_HUMAN			Transcript			.	ENSP00000344577		CCDS13922.1			1	
KCNH7	0	LGGM	GRCh37	2	163228347	163228347	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000332142.5:c.3583G>T	p.Gly1195Trp	p.G1195W	ENST00000332142	NM_033272.3	1195	Ggg/Tgg	0	1	1	UPI0000167D11	0	NA	ENST00000332142		ENSG00000184611	18863		33	0.695		HGNC	p.G1195W		KCNH7		SNV							ENST00000332142	protein_coding	getma.org/?cm=var&var=hg19,2,163228347,C,A&fts=all				G/W		A	neutral	3683/4113		getma.org/?cm=msa&ty=f&p=KCNH7_HUMAN&rb=1074&re=1196&var=G1195W	deleterious_low_confidence(0)				YES	KCNH7,missense_variant,p.Gly1195Trp,ENST00000332142,NM_033272.3;GCA,downstream_gene_variant,,ENST00000414723,;							MODERATE	3583/3591	G1195W	KCNH7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000331727		CCDS2219.1			1	
FLG	0	LGGM	GRCh37	1	152275656	152275656	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000368799.1:c.11706C>A	p.Pro3902=	p.P3902=	ENST00000368799	NM_002016.1	3902	ccC/ccA	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748		40			HGNC	p.P3902P		FLG		SNV			1				ENST00000368799	protein_coding					P		T		11742/12747				Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							LOW	11706/12186		FILA_HUMAN			Transcript			.	ENSP00000357789		CCDS30860.1			1	
PRMT5	0	LGGM	GRCh37	14	23390254	23390254	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000324366.8:c.1773G>T	p.Thr591=	p.T591=	ENST00000324366	NM_006109.3	591	acG/acT	0	1	1	UPI000006F09F	0		ENST00000324366		ENSG00000100462	10894		32			HGNC	p.T420T		PRMT5		SNV							ENST00000397440	protein_coding			Superfamily_domains:SSF53335,PIRSF_domain:PIRSF015894,Gene3D:2.70.160.11,Pfam_domain:PF05185,hmmpanther:PTHR10738,PROSITE_profiles:PS51678		T		A		1997/2531				G3V5T6_HUMAN,G3V5L5_HUMAN,B4DV00_HUMAN			YES	PRMT5,synonymous_variant,p.=,ENST00000324366,NM_006109.3;PRMT5,synonymous_variant,p.=,ENST00000397441,NM_001039619.1;PRMT5,synonymous_variant,p.=,ENST00000216350,NM_001282953.1;PRMT5,synonymous_variant,p.=,ENST00000538452,;PRMT5,synonymous_variant,p.=,ENST00000397440,NM_001282956.1;PRMT5,synonymous_variant,p.=,ENST00000553897,NM_001282955.1;PRMT5,synonymous_variant,p.=,ENST00000454731,;PRMT5,synonymous_variant,p.=,ENST00000557443,;PRMT5,3_prime_UTR_variant,,ENST00000555454,;RBM23,upstream_gene_variant,,ENST00000359890,NM_001077351.1;RBM23,upstream_gene_variant,,ENST00000399922,NM_018107.4;RBM23,upstream_gene_variant,,ENST00000346528,NM_001077352.1;RBM23,upstream_gene_variant,,ENST00000555209,;RBM23,upstream_gene_variant,,ENST00000542016,;PRMT5,downstream_gene_variant,,ENST00000555530,;RBM23,upstream_gene_variant,,ENST00000557403,;PRMT5,downstream_gene_variant,,ENST00000556043,;RBM23,upstream_gene_variant,,ENST00000555722,;RBM23,upstream_gene_variant,,ENST00000554618,;RBM23,upstream_gene_variant,,ENST00000555676,;RBM23,upstream_gene_variant,,ENST00000557549,;RBM23,upstream_gene_variant,,ENST00000554256,;PRMT5,downstream_gene_variant,,ENST00000553550,;RBM23,upstream_gene_variant,,ENST00000557571,;RBM23,upstream_gene_variant,,ENST00000556862,;RBM23,upstream_gene_variant,,ENST00000557227,;RBM23,upstream_gene_variant,,ENST00000557464,;PRMT5,downstream_gene_variant,,ENST00000553502,;RBM23,upstream_gene_variant,,ENST00000553876,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000424245,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000599580,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000457443,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000587245,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000590290,;PRMT5-AS1,non_coding_transcript_exon_variant,,ENST00000595662,;PRMT5-AS1,intron_variant,,ENST00000609885,;PRMT5,non_coding_transcript_exon_variant,,ENST00000476175,;RBM23,upstream_gene_variant,,ENST00000556984,;RBM23,upstream_gene_variant,,ENST00000555714,;PRMT5,downstream_gene_variant,,ENST00000554716,;RBM23,upstream_gene_variant,,ENST00000553920,;RBM23,upstream_gene_variant,,ENST00000556365,;RBM23,upstream_gene_variant,,ENST00000553777,;PRMT5,3_prime_UTR_variant,,ENST00000553915,;RBM23,upstream_gene_variant,,ENST00000557667,;RBM23,upstream_gene_variant,,ENST00000307814,;RBM23,upstream_gene_variant,,ENST00000556687,;RBM23,upstream_gene_variant,,ENST00000554955,;PRMT5,downstream_gene_variant,,ENST00000557758,;RBM23,upstream_gene_variant,,ENST00000553902,;PRMT5,downstream_gene_variant,,ENST00000553787,;							LOW	1773/1914		ANM5_HUMAN			Transcript			.	ENSP00000319169		CCDS9579.1			1	
FBF1	0	LGGM	GRCh37	17	73910936	73910936	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	4	.	.	ENST00000319129.5:c.2661G>T	p.Ala887=	p.A887=	ENST00000319129	NM_001080542.1	887	gcG/gcT	0	1		UPI0001596A09	0		ENST00000586717		ENSG00000188878	24674		8			HGNC	p.A887A	rs550825443	FBF1		SNV							ENST00000319129	protein_coding		A:0	Low_complexity_(Seg):seg		A		A		2938/4825				K7ESG2_HUMAN	A:0	A:0.001		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,synonymous_variant,p.=,ENST00000588283,;FBF1,non_coding_transcript_exon_variant,,ENST00000585990,;RP11-552F3.12,non_coding_transcript_exon_variant,,ENST00000593156,;FBF1,non_coding_transcript_exon_variant,,ENST00000593076,;FBF1,upstream_gene_variant,,ENST00000586112,;RP11-552F3.12,upstream_gene_variant,,ENST00000587556,;		A:0.0002					LOW	2664/3402		FBF1_HUMAN		A:0	Transcript			.	ENSP00000465132				A:0	1	
THSD7A	0	LGGM	GRCh37	7	11509548	11509548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000423059.4:c.2326C>A	p.Pro776Thr	p.P776T	ENST00000423059	NM_015204.2	776	Cca/Aca	0	1	1	UPI00006C0B74	0	NA	ENST00000423059		ENSG00000005108	22207		35	2.23		HGNC	p.P776T		THSD7A		SNV							ENST00000423059	protein_coding	getma.org/?cm=var&var=hg19,7,11509548,G,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		P/T		T	medium	2578/10663		getma.org/?cm=msa&ty=f&p=THS7A_HUMAN&rb=775&re=830&var=P776T	deleterious(0.02)				YES	THSD7A,missense_variant,p.Pro776Thr,ENST00000423059,NM_015204.2;AC004538.3,intron_variant,,ENST00000445839,;THSD7A,intron_variant,,ENST00000497575,;							MODERATE	2326/4974	P776T	THS7A_HUMAN			Transcript		benign(0.145)	.	ENSP00000406482		CCDS47543.1			1	
CACNA1A	0	LGGM	GRCh37	19	13395946	13395946	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000360228.5:c.3628G>T	p.Gly1210Trp	p.G1210W	ENST00000360228	NM_001127222.1	1210	Ggg/Tgg	0	1	1	UPI0000141565	0	NA	ENST00000360228		ENSG00000141837	1388		19	1.32		HGNC	p.G1210W		CACNA1A		SNV			1				ENST00000360228	protein_coding	getma.org/?cm=var&var=hg19,19,13395946,C,A&fts=all		Prints_domain:PR01632,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Low_complexity_(Seg):seg		G/W		A	low	3628/8392		getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=1114&re=1278&var=G1211W		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,missense_variant,p.Gly1210Trp,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Gly1211Trp,ENST00000573710,NM_001127221.1;							MODERATE	3628/7521	G1211W	CAC1A_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000353362		CCDS45998.1			1	
PPM1E	0	LGGM	GRCh37	17	57046944	57046944	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000308249.2:c.828G>T	p.Gly276=	p.G276=	ENST00000308249	NM_014906.4	276	ggG/ggT	0	1	1	UPI000013ECF6	0		ENST00000308249		ENSG00000175175	19322		27			HGNC	p.G276G	COSM1522178	PPM1E		SNV						1	ENST00000308249	protein_coding			Gene3D:3.60.40.10,Pfam_domain:PF00481,PROSITE_patterns:PS01032,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF225,SMART_domains:SM00332,Superfamily_domains:SSF81606		G		T		957/2988				A7E2X1_HUMAN			YES	PPM1E,synonymous_variant,p.=,ENST00000308249,NM_014906.4;RP11-579O24.3,downstream_gene_variant,,ENST00000582080,;					1		LOW	828/2268		PPM1E_HUMAN			Transcript			.	ENSP00000312411		CCDS11613.1			1	
TEKT5	0	LGGM	GRCh37	16	10769833	10769833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000283025.2:c.1069C>A	p.Gln357Lys	p.Q357K	ENST00000283025	NM_144674.1	357	Cag/Aag	0	1	1	UPI000006D1A0	0	NA	ENST00000283025		ENSG00000153060	26554		42	2.23		HGNC	p.Q130K		TEKT5		SNV							ENST00000576638	protein_coding	getma.org/?cm=var&var=hg19,16,10769833,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF23		Q/K		T	medium	1141/1612		getma.org/?cm=msa&ty=f&p=TEKT5_HUMAN&rb=94&re=477&var=Q357K	deleterious(0.01)	I3L1F7_HUMAN			YES	TEKT5,missense_variant,p.Gln357Lys,ENST00000283025,NM_144674.1;TEKT5,missense_variant,p.Gln130Lys,ENST00000576638,;TEKT5,upstream_gene_variant,,ENST00000574923,;							MODERATE	1069/1458	Q357K	TEKT5_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000283025		CCDS10542.1			1	
KIAA1239	0	LGGM	GRCh37	4	37447714	37447714	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	4	.	.	ENST00000309447.5:c.4104C>A	p.Thr1368=	p.T1368=	ENST00000309447	NM_001144990.1	1368	acC/acA	0	1	1	UPI00006C0875	0		ENST00000309447		ENSG00000174145	29229		63			HGNC	p.T1368T		KIAA1239		SNV							ENST00000309447	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,SMART_domains:SM00320,Superfamily_domains:SSF82171		T		A		4952/8325							YES	KIAA1239,synonymous_variant,p.=,ENST00000309447,NM_001144990.1;							LOW	4104/5229		K1239_HUMAN			Transcript			.	ENSP00000309501		CCDS47040.1			1	
CMKLR2	0	LGGM	GRCh37	2	207041119	207041119	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000407325.2:c.853G>T	p.Gly285Ter	p.G285*	ENST00000407325	NM_001098199.1	285	Gga/Tga	0	1	1	UPI000013C9FB	0	NA	ENST00000407325		ENSG00000183671	4463		34	0		HGNC	p.G285X		GPR1		SNV							ENST00000407325	protein_coding	getma.org/?cm=var&var=hg19,2,207041119,C,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24229:SF4,hmmpanther:PTHR24229,PROSITE_profiles:PS50262		G/*		A	NA	1216/2295		NA		C9JSU0_HUMAN,C9JQB7_HUMAN,C9JKF3_HUMAN,C9JFR8_HUMAN,C9JCK1_HUMAN,C9J456_HUMAN			YES	GPR1,stop_gained,p.Gly285Ter,ENST00000407325,NM_001098199.1,NM_005279.3,NM_001261453.1,NM_001261455.1,NM_001261454.1,NM_001261452.1;GPR1,stop_gained,p.Gly285Ter,ENST00000437420,;GPR1,downstream_gene_variant,,ENST00000442134,;GPR1,downstream_gene_variant,,ENST00000451790,;GPR1,downstream_gene_variant,,ENST00000411719,;GPR1,downstream_gene_variant,,ENST00000439932,;GPR1,downstream_gene_variant,,ENST00000447845,;GPR1,downstream_gene_variant,,ENST00000458440,;							HIGH	853/1068	G285*	GPR1_HUMAN			Transcript			.	ENSP00000384345		CCDS2368.1			1	
SORBS2	0	LGGM	GRCh37	4	186544264	186544264	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	4	.	.	ENST00000355634.5:c.2607C>G	p.Pro869=	p.P869=	ENST00000355634	NM_001270771.1	869	ccC/ccG	0	1		UPI0000070F00	0		ENST00000284776		ENSG00000154556	24098		82			HGNC	p.P769P		SORBS2		SNV							ENST00000431808	protein_coding			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122		P		C		2817/5996				C9JL62_HUMAN,C9JBR8_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9IZ89_HUMAN				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,;							LOW	2307/3303		SRBS2_HUMAN			Transcript			.	ENSP00000284776		CCDS3845.1			1	
ZNF703	0	LGGM	GRCh37	8	37556156	37556156	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000331569.4:c.1737G>T	p.Gln579His	p.Q579H	ENST00000331569	NM_025069.1	579	caG/caT	0	1	1	UPI0000073D30	0	NA	ENST00000331569		ENSG00000183779	25883		15	2.31		HGNC	p.Q579H		ZNF703		SNV							ENST00000331569	protein_coding	getma.org/?cm=var&var=hg19,8,37556156,G,T&fts=all		hmmpanther:PTHR12522:SF2,hmmpanther:PTHR12522		Q/H		T	medium	1966/3347		getma.org/?cm=msa&ty=f&p=ZN703_HUMAN&rb=536&re=590&var=Q579H	deleterious(0)				YES	ZNF703,missense_variant,p.Gln579His,ENST00000331569,NM_025069.1;							MODERATE	1737/1773	Q579H	ZN703_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000332325		CCDS6094.1			1	
SLC4A1AP	0	LGGM	GRCh37	2	27886773	27886773	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000326019.6:c.154C>A	p.Arg52=	p.R52=	ENST00000326019	NM_018158.2	52	Cgg/Agg	0	1	1	UPI000006F66B	0		ENST00000326019		ENSG00000163798	13813		43			HGNC	p.R52R		SLC4A1AP		SNV							ENST00000326019	protein_coding					R		A		436/2959				B4DV74_HUMAN			YES	SLC4A1AP,synonymous_variant,p.=,ENST00000326019,NM_018158.2;SUPT7L,upstream_gene_variant,,ENST00000337768,NM_014860.1,NM_001282729.1;SUPT7L,upstream_gene_variant,,ENST00000406540,;SUPT7L,upstream_gene_variant,,ENST00000464789,;SUPT7L,upstream_gene_variant,,ENST00000405491,;SUPT7L,upstream_gene_variant,,ENST00000404798,NM_001282732.1;SLC4A1AP,upstream_gene_variant,,ENST00000427424,;							LOW	154/2391		NADAP_HUMAN			Transcript			.	ENSP00000323837		CCDS33166.1			1	
PPFIA4	0	LGGM	GRCh37	1	203028920	203028920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000272198.6:c.1006C>A	p.Arg336Ser	p.R336S	ENST00000272198	NM_015053.1	336	Cgc/Agc	0	1		UPI0001661778	0	getma.org/pdb.php?prot=LIPA4_HUMAN&from=201&to=342&var=R336S	ENST00000447715		ENSG00000143847	9248		34	2.255		HGNC	p.R336S		PPFIA4		SNV							ENST00000272198	protein_coding	getma.org/?cm=var&var=hg19,1,203028920,C,A&fts=all		hmmpanther:PTHR12587:SF5,hmmpanther:PTHR12587		R/S		A	medium	2899/6349		getma.org/?cm=msa&ty=f&p=LIPA4_HUMAN&rb=201&re=342&var=R336S	deleterious(0.05)	B1N949_HUMAN				PPFIA4,missense_variant,p.Arg821Ser,ENST00000367240,;PPFIA4,missense_variant,p.Arg336Ser,ENST00000295706,;PPFIA4,missense_variant,p.Arg820Ser,ENST00000447715,;PPFIA4,missense_variant,p.Arg336Ser,ENST00000272198,NM_015053.1;PPFIA4,missense_variant,p.Arg336Ser,ENST00000599966,;PPFIA4,missense_variant,p.Arg588Ser,ENST00000600426,;PPFIA4,missense_variant,p.Arg549Ser,ENST00000414050,;PPFIA4,downstream_gene_variant,,ENST00000599514,;PPFIA4,upstream_gene_variant,,ENST00000486360,;PPFIA4,upstream_gene_variant,,ENST00000594656,;PPFIA4,downstream_gene_variant,,ENST00000600447,;							MODERATE	2458/3558	R336S				Transcript		benign(0.35)	.	ENSP00000402576					1	
SSTR4	0	LGGM	GRCh37	20	23016735	23016735	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000255008.3:c.615G>T	p.Pro205=	p.P205=	ENST00000255008	NM_001052.2	205	ccG/ccT	0	1	1	UPI000013CE7A	0		ENST00000255008		ENSG00000132671	11333		20			HGNC	p.P205P		SSTR4		SNV							ENST00000255008	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00590		P		T		679/1258							YES	SSTR4,synonymous_variant,p.=,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;							LOW	615/1167		SSR4_HUMAN			Transcript			.	ENSP00000255008		CCDS42856.1			1	
CDON	0	LGGM	GRCh37	11	125831836	125831836	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000392693.3:c.3414G>T	p.Val1138=	p.V1138=	ENST00000392693	NM_001243597.1	1138	gtG/gtT	0	1	1	UPI0000E0013A	0		ENST00000392693		ENSG00000064309	17104		31			HGNC	p.V1138V		CDON		SNV			1				ENST00000392693	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489		V		A		3542/9138				E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN			YES	CDON,synonymous_variant,p.=,ENST00000392693,NM_001243597.1,NM_016952.4;CDON,synonymous_variant,p.=,ENST00000531738,;CDON,synonymous_variant,p.=,ENST00000263577,;RP11-680F20.12,downstream_gene_variant,,ENST00000582823,;							LOW	3414/3864		CDON_HUMAN			Transcript			.	ENSP00000376458		CCDS58192.1			1	
INADL	0	LGGM	GRCh37	1	62455997	62455997	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000371158.2:c.3828C>A	p.Ala1276=	p.A1276=	ENST00000371158	NM_176877.2	1276	gcC/gcA	0	1	1	UPI0000204487	0		ENST00000371158		ENSG00000132849	28881		49			HGNC	p.A1276A		INADL		SNV							ENST00000316485	protein_coding			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,SMART_domains:SM00228,Superfamily_domains:SSF50156		A		A		3942/8505							YES	INADL,synonymous_variant,p.=,ENST00000371158,NM_176877.2;INADL,synonymous_variant,p.=,ENST00000316485,;INADL,synonymous_variant,p.=,ENST00000543708,;INADL,synonymous_variant,p.=,ENST00000307297,;INADL,5_prime_UTR_variant,,ENST00000545929,;INADL,non_coding_transcript_exon_variant,,ENST00000494842,;INADL,non_coding_transcript_exon_variant,,ENST00000490547,;INADL,synonymous_variant,p.=,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;							LOW	3828/5406		INADL_HUMAN			Transcript			.	ENSP00000360200		CCDS617.2			1	
KAT2B	0	LGGM	GRCh37	3	20156474	20156474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000263754.4:c.1144C>A	p.Gln382Lys	p.Q382K	ENST00000263754	NM_003884.4	382	Caa/Aaa	0	1	1	UPI00002132DE	0	NA	ENST00000263754		ENSG00000114166	8638		39	1.1		HGNC	p.Q382K		KAT2B		SNV							ENST00000263754	protein_coding	getma.org/?cm=var&var=hg19,3,20156474,C,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,PIRSF_domain:PIRSF003048		Q/K		A	low	1599/4833		getma.org/?cm=msa&ty=f&p=KAT2B_HUMAN&rb=328&re=527&var=Q382K	tolerated(0.12)				YES	KAT2B,missense_variant,p.Gln382Lys,ENST00000263754,NM_003884.4;KAT2B,non_coding_transcript_exon_variant,,ENST00000469085,;							MODERATE	1144/2499	Q382K	KAT2B_HUMAN			Transcript		benign(0.045)	.	ENSP00000263754		CCDS2634.1			1	
PANK1	0	LGGM	GRCh37	10	91371570	91371570	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000307534.4:c.939C>A	p.Pro313=	p.P313=	ENST00000307534	NM_148977.2	313	ccC/ccA	0	1	1	UPI0000131D49	0		ENST00000307534		ENSG00000152782	8598		24			HGNC	p.P313P		PANK1		SNV							ENST00000307534	protein_coding			hmmpanther:PTHR12280,hmmpanther:PTHR12280:SF23,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067		P		T		1095/3367							YES	PANK1,synonymous_variant,p.=,ENST00000307534,NM_148977.2;PANK1,synonymous_variant,p.=,ENST00000371774,;PANK1,synonymous_variant,p.=,ENST00000342512,NM_148978.2;PANK1,synonymous_variant,p.=,ENST00000322191,NM_138316.3;PANK1,non_coding_transcript_exon_variant,,ENST00000461829,;							LOW	939/1797		PANK1_HUMAN			Transcript			.	ENSP00000302108		CCDS31244.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64608184	64608184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000498707.1:c.2468G>T	p.Gly823Val	p.G823V	ENST00000498707	NM_182920.1	823	gGg/gTg	0	1	1	UPI00000463F0	0	NA	ENST00000498707		ENSG00000163638	13202		42	2.62		HGNC	p.G823V		ADAMTS9		SNV							ENST00000498707	protein_coding	getma.org/?cm=var&var=hg19,3,64608184,C,A&fts=all		hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF05986		G/V		A	medium	2811/7464		getma.org/?cm=msa&ty=f&p=ATS9_HUMAN&rb=753&re=871&var=G823V	tolerated(0.07)	B4E0E4_HUMAN			YES	ADAMTS9,missense_variant,p.Gly823Val,ENST00000498707,NM_182920.1;ADAMTS9,missense_variant,p.Gly795Val,ENST00000295903,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;							MODERATE	2468/5808	G823V	ATS9_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000418735		CCDS2903.1			1	
GON4L	0	LGGM	GRCh37	1	155721587	155721587	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000437809.1:c.6544C>A	p.Gln2182Lys	p.Q2182K	ENST00000437809		2182	Cag/Aag	0	1		UPI0000351551	0	getma.org/pdb.php?prot=GON4L_HUMAN&from=2148&to=2201&var=Q2183K	ENST00000368331		ENSG00000116580	25973		37	0.14		HGNC	p.Q2182K		GON4L		SNV							ENST00000271883	protein_coding	getma.org/?cm=var&var=hg19,1,155721587,G,T&fts=all		PROSITE_profiles:PS50090,hmmpanther:PTHR16088:SF10,hmmpanther:PTHR16088,Gene3D:1.10.10.60,Superfamily_domains:SSF46689		Q/K		T	neutral	6596/7640		getma.org/?cm=msa&ty=f&p=GON4L_HUMAN&rb=2148&re=2201&var=Q2183K	deleterious(0.03)					GON4L,missense_variant,p.Gln2182Lys,ENST00000437809,;GON4L,missense_variant,p.Gln2183Lys,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,missense_variant,p.Gln2182Lys,ENST00000271883,;MSTO1,downstream_gene_variant,,ENST00000452804,;MSTO1,downstream_gene_variant,,ENST00000538143,;GON4L,non_coding_transcript_exon_variant,,ENST00000473267,;GON4L,downstream_gene_variant,,ENST00000483032,;GON4L,downstream_gene_variant,,ENST00000460075,;MSTO2P,downstream_gene_variant,,ENST00000538914,;MSTO2P,downstream_gene_variant,,ENST00000314835,;MSTO2P,downstream_gene_variant,,ENST00000545423,;							MODERATE	6547/6726	Q2183K	GON4L_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000357315		CCDS60296.1			1	
GLIS3	0	LGGM	GRCh37	9	3856085	3856085	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000381971.3:c.2397G>T	p.Gln799His	p.Q799H	ENST00000381971	NM_001042413.1	799	caG/caT	0	1		UPI00003675FE	0	NA	ENST00000324333		ENSG00000107249	28510		43	0.975		HGNC	p.Q799H		GLIS3		SNV			1				ENST00000381971	protein_coding	getma.org/?cm=var&var=hg19,9,3856085,C,A&fts=all		hmmpanther:PTHR19818:SF71,hmmpanther:PTHR19818		Q/H		A	low	2126/6667		getma.org/?cm=msa&ty=f&p=GLIS3_HUMAN&rb=516&re=773&var=Q644H	tolerated(0.07)	Q1PHK4_HUMAN,Q1PHJ2_HUMAN,Q1PHI3_HUMAN				GLIS3,missense_variant,p.Gln644His,ENST00000324333,NM_152629.3;GLIS3,missense_variant,p.Gln799His,ENST00000381971,NM_001042413.1;GLIS3,non_coding_transcript_exon_variant,,ENST00000461870,;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,;							MODERATE	1932/2328	Q644H	GLIS3_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000325494		CCDS6451.1			1	
NRDE2	0	LGGM	GRCh37	14	90756836	90756836	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000354366.3:c.1958C>A	p.Pro653Gln	p.P653Q	ENST00000354366	NM_017970.3	653	cCa/cAa	0	1	1	UPI00001FD9DB	0	NA	ENST00000354366		ENSG00000119720	20186		28	1.87		HGNC	p.P653Q		NRDE2		SNV							ENST00000354366	protein_coding	getma.org/?cm=var&var=hg19,14,90756836,G,T&fts=all		hmmpanther:PTHR13471,Superfamily_domains:SSF48452		P/Q		T	low	2191/5828		getma.org/?cm=msa&ty=f&p=CN102_HUMAN&rb=307&re=653&var=P653Q	tolerated(0.12)	Q658X2_HUMAN,E9PBK4_HUMAN			YES	NRDE2,missense_variant,p.Pro653Gln,ENST00000354366,NM_017970.3;NRDE2,missense_variant,p.Pro422Gln,ENST00000357904,;NRDE2,downstream_gene_variant,,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,upstream_gene_variant,,ENST00000555903,;							MODERATE	1958/3495	P653Q	NRDE2_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000346335		CCDS9890.1			1	
ARHGEF15	0	LGGM	GRCh37	17	8222388	8222388	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000361926.3:c.2097G>T	p.Pro699=	p.P699=	ENST00000361926	NM_173728.3	699	ccG/ccT	0	1	1	UPI000013D2C0	0		ENST00000361926		ENSG00000198844	15590		32			HGNC	p.P699P		ARHGEF15		SNV							ENST00000361926	protein_coding			hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7,Superfamily_domains:SSF50729		P		T		2207/4154				J3QS60_HUMAN,J3KT46_HUMAN			YES	ARHGEF15,synonymous_variant,p.=,ENST00000361926,NM_173728.3;ARHGEF15,synonymous_variant,p.=,ENST00000421050,NM_025014.1;AC135178.7,upstream_gene_variant,,ENST00000458568,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000582060,;ARHGEF15,downstream_gene_variant,,ENST00000578286,;							LOW	2097/2526		ARHGF_HUMAN			Transcript			.	ENSP00000355026		CCDS11139.1			1	
IGF2R	0	LGGM	GRCh37	6	160492989	160492989	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000356956.1:c.4491C>A	p.Thr1497=	p.T1497=	ENST00000356956	NM_000876.2	1497	acC/acA	0	1	1	UPI0000072478	0		ENST00000356956		ENSG00000197081	5467		43			HGNC	p.T1497T		IGF2R		SNV							ENST00000356956	protein_coding			hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Pfam_domain:PF00878,Gene3D:2.70.130.10,Superfamily_domains:SSF50911		T		A		4639/9091				A0N9R7_HUMAN,A0N9R6_HUMAN			YES	IGF2R,synonymous_variant,p.=,ENST00000356956,NM_000876.2;IGF2R,upstream_gene_variant,,ENST00000487607,;							LOW	4491/7476		MPRI_HUMAN			Transcript			.	ENSP00000349437		CCDS5273.1			1	
NDST2	0	LGGM	GRCh37	10	75567165	75567165	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000309979.6:c.982C>A	p.Arg328Ser	p.R328S	ENST00000309979		328	Cgc/Agc	0	1		UPI00020658C4	0	NA	ENST00000299641		ENSG00000166507	7681		37	3.045		HGNC	p.R205S		NDST2		SNV							ENST00000299641	protein_coding	getma.org/?cm=var&var=hg19,10,75567165,G,T&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36		R/S		T	medium	1584/3789		getma.org/?cm=msa&ty=f&p=NDST2_HUMAN&rb=24&re=514&var=R328S	deleterious(0)	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN				NDST2,missense_variant,p.Arg205Ser,ENST00000299641,NM_003635.3;NDST2,missense_variant,p.Arg328Ser,ENST00000309979,;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,non_coding_transcript_exon_variant,,ENST00000463410,;NDST2,downstream_gene_variant,,ENST00000398701,;NDST2,downstream_gene_variant,,ENST00000465929,;RP11-574K11.31,missense_variant,p.Arg328Ser,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;							MODERATE	613/2283	R328S				Transcript		probably_damaging(1)	.	ENSP00000299641					1	
PMF1	0	LGGM	GRCh37	1	156195383	156195383	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000368276.4:c.162-6728C>A		*54*	ENST00000368276	NM_001199661.1			0	1		UPI000013E0A8	0		ENST00000368277		ENSG00000160783	9112		17			HGNC	p.P66H		PMF1		SNV							ENST00000368273	protein_coding							A		-/1068				D3DVB3_HUMAN				PMF1,missense_variant,p.Pro66His,ENST00000368273,NM_001199654.1;PMF1,intron_variant,,ENST00000368277,NM_007221.3;PMF1,intron_variant,,ENST00000368279,NM_001199653.1;PMF1-BGLAP,intron_variant,,ENST00000490491,NM_001199662.1;PMF1-BGLAP,intron_variant,,ENST00000368276,NM_001199661.1;PMF1-BGLAP,intron_variant,,ENST00000320139,NM_001199663.1;PMF1,intron_variant,,ENST00000567140,;PMF1,intron_variant,,ENST00000565805,;PMF1,missense_variant,p.Pro63His,ENST00000497069,;PMF1,3_prime_UTR_variant,,ENST00000466489,;PMF1,intron_variant,,ENST00000606952,;							MODIFIER	-/618		PMF1_HUMAN			Transcript			.	ENSP00000357260		CCDS30886.1			1	
CHRD	0	LGGM	GRCh37	3	184103911	184103911	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000204604.1:c.1896C>A	p.Thr632=	p.T632=	ENST00000204604	NM_003741.2	632	acC/acA	0	1	1	UPI000013C64D	0		ENST00000204604		ENSG00000090539	1949		19			HGNC	p.T592T		CHRD		SNV							ENST00000348986	protein_coding			Pfam_domain:PF07452,PIRSF_domain:PIRSF002496,PROSITE_profiles:PS50933,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,SMART_domains:SM00754		T		A		2142/3521				Q8N2W7_HUMAN			YES	CHRD,synonymous_variant,p.=,ENST00000204604,NM_003741.2;CHRD,synonymous_variant,p.=,ENST00000450923,;CHRD,synonymous_variant,p.=,ENST00000348986,;CHRD,synonymous_variant,p.=,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,,ENST00000496527,;CHRD,downstream_gene_variant,,ENST00000485883,;CHRD,downstream_gene_variant,,ENST00000482014,;CHRD,downstream_gene_variant,,ENST00000486066,;CHRD,downstream_gene_variant,,ENST00000459711,;							LOW	1896/2868		CHRD_HUMAN			Transcript			.	ENSP00000204604		CCDS3266.1			1	
BOC	0	LGGM	GRCh37	3	112989766	112989766	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000495514.1:c.642C>A	p.Gly214=	p.G214=	ENST00000495514		214	ggC/ggA	0	1		UPI0000072E0E	0		ENST00000355385		ENSG00000144857	17173		34			HGNC	p.G214G		BOC		SNV							ENST00000495514	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,SMART_domains:SM00409		G		A		981/4278				C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,synonymous_variant,p.=,ENST00000495514,;BOC,synonymous_variant,p.=,ENST00000355385,NM_033254.2;BOC,synonymous_variant,p.=,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000498710,;BOC,non_coding_transcript_exon_variant,,ENST00000477178,;BOC,upstream_gene_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000471963,;BOC,upstream_gene_variant,,ENST00000479182,;							LOW	642/3345		BOC_HUMAN			Transcript			.	ENSP00000347546		CCDS2971.1			1	
GPNMB	0	LGGM	GRCh37	7	23296574	23296574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000381990.2:c.431G>T	p.Gly144Val	p.G144V	ENST00000381990	NM_002510.2	144	gGg/gTg	0	1	1	UPI000007158E	0	NA	ENST00000381990		ENSG00000136235	4462		29	0		HGNC	p.G144V		GPNMB		SNV							ENST00000409458	protein_coding	getma.org/?cm=var&var=hg19,7,23296574,G,T&fts=all		hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF11		G/V		T	neutral	592/2763		getma.org/?cm=msa&ty=f&p=GPNMB_HUMAN&rb=1&re=200&var=G144V	deleterious(0.03)				YES	GPNMB,missense_variant,p.Gly144Val,ENST00000258733,;GPNMB,missense_variant,p.Gly144Val,ENST00000381990,NM_002510.2,NM_001005340.1;GPNMB,missense_variant,p.Gly45Val,ENST00000539136,;GPNMB,missense_variant,p.Gly144Val,ENST00000409458,;GPNMB,intron_variant,,ENST00000453162,;GPNMB,non_coding_transcript_exon_variant,,ENST00000465673,;GPNMB,non_coding_transcript_exon_variant,,ENST00000492858,;GPNMB,downstream_gene_variant,,ENST00000459927,;GPNMB,downstream_gene_variant,,ENST00000487890,;GPNMB,downstream_gene_variant,,ENST00000492512,;							MODERATE	431/1719	G144V	GPNMB_HUMAN			Transcript		benign(0.028)	.	ENSP00000371420		CCDS34610.1			1	
CELSR1	0	LGGM	GRCh37	22	46795723	46795723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000262738.3:c.5303G>T	p.Arg1768Leu	p.R1768L	ENST00000262738	NM_014246.1	1768	cGg/cTg	0	1	1	UPI0000040648	0	getma.org/pdb.php?prot=CELR1_HUMAN&from=1719&to=1849&var=R1768L	ENST00000262738		ENSG00000075275	1850		17	1.7		HGNC	p.R1768L		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46795723,C,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24026,PROSITE_profiles:PS50025		R/L		A	low	5303/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=1719&re=1849&var=R1768L	tolerated(0.14)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.Arg1768Leu,ENST00000262738,NM_014246.1;							MODERATE	5303/9045	R1768L	CELR1_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000262738		CCDS14076.1			1	
PRDM2	0	LGGM	GRCh37	1	14109241	14109241	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000235372.7:c.4951C>A	p.Arg1651=	p.R1651=	ENST00000235372	NM_012231.4	1651	Cgg/Agg	0	1	1	UPI000013C9CD	0		ENST00000235372		ENSG00000116731	9347		34			HGNC	p.R1651R		PRDM2		SNV							ENST00000311066	protein_coding			PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4		R		A		5807/7957				S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,synonymous_variant,p.=,ENST00000235372,NM_012231.4;PRDM2,synonymous_variant,p.=,ENST00000311066,NM_015866.4;PRDM2,synonymous_variant,p.=,ENST00000413440,NM_001007257.2;PRDM2,synonymous_variant,p.=,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;							LOW	4951/5157		PRDM2_HUMAN			Transcript			.	ENSP00000235372		CCDS150.1			1	
C6orf183	0	LGGM	GRCh37	6	109583112	109583112	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000453496.2:n.1061G>T		*354*	ENST00000453496				0	1	1		0	NA	ENST00000453496		ENSG00000243587	21562		28	0.915		HGNC	p.M338I		C6orf183		SNV							ENST00000453496	processed_transcript	getma.org/?cm=var&var=hg19,6,109583112,G,T&fts=all						T	low	1061/2469		getma.org/?cm=msa&ty=f&p=YF005_HUMAN&rb=38&re=530&var=M338I					YES	C6orf183,non_coding_transcript_exon_variant,,ENST00000453496,;							MODIFIER		M338I				Transcript			.						1	
ACVR1	0	LGGM	GRCh37	2	158634709	158634709	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000263640.3:c.477C>A	p.Pro159=	p.P159=	ENST00000263640	NM_001105.4	159	ccC/ccA	0	1	1	UPI000000163F	0		ENST00000263640		ENSG00000115170	171		19			HGNC	p.P159P		ACVR1		SNV			1				ENST00000410057	protein_coding			hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF56		P		T		907/3045				D3DPA4_HUMAN,Q53SV1_HUMAN,Q53SF4_HUMAN,F5GY91_HUMAN,C9JW28_HUMAN,C9JHJ7_HUMAN,C9J1R3_HUMAN			YES	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,;ACVR1,downstream_gene_variant,,ENST00000539637,;ACVR1,downstream_gene_variant,,ENST00000424669,;ACVR1,downstream_gene_variant,,ENST00000440523,;ACVR1,downstream_gene_variant,,ENST00000412025,;ACVR1,non_coding_transcript_exon_variant,,ENST00000487456,;							LOW	477/1530		ACVR1_HUMAN			Transcript			.	ENSP00000263640		CCDS2206.1			1	
SLC47A2	0	LGGM	GRCh37	17	19611685	19611685	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000325411.5:c.667G>T	p.Gly223Cys	p.G223C	ENST00000325411	NM_152908.3	223	Ggt/Tgt	0	1	1	UPI0000190813	0	NA	ENST00000325411		ENSG00000180638	26439		32	1.83		HGNC	p.G187C		SLC47A2		SNV							ENST00000350657	protein_coding	getma.org/?cm=var&var=hg19,17,19611685,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11206,hmmpanther:PTHR11206:SF81,TIGRFAM_domain:TIGR00797		G/C		A	low	718/2258		getma.org/?cm=msa&ty=f&p=S47A2_HUMAN&rb=183&re=296&var=G223C	deleterious(0)				YES	SLC47A2,missense_variant,p.Gly187Cys,ENST00000350657,NM_001099646.1,NM_001256663.1;SLC47A2,missense_variant,p.Gly223Cys,ENST00000325411,NM_152908.3;SLC47A2,missense_variant,p.Gly187Cys,ENST00000433844,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000463318,;SLC47A2,3_prime_UTR_variant,,ENST00000574239,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000467379,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000467609,;SLC47A2,non_coding_transcript_exon_variant,,ENST00000574220,;							MODERATE	667/1809	G223C	S47A2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000326671		CCDS11211.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70744444	70744444	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000260126.4:c.465C>A	p.Thr155=	p.T155=	ENST00000260126	NM_030958.2	155	acC/acA	0	1	1	UPI0000140F53	0		ENST00000260126		ENSG00000137571	19046		24			HGNC	p.T155T		SLCO5A1		SNV							ENST00000260126	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805		T		T		1172/9076							YES	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,;							LOW	465/2547		SO5A1_HUMAN			Transcript			.	ENSP00000260126		CCDS6205.1			1	
STAP2	0	LGGM	GRCh37	19	4332064	4332064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000600324.1:c.309G>T	p.Leu103Phe	p.L103F	ENST00000600324	NM_017720.2	103	ttG/ttT	0	1		UPI00002030E3	0	getma.org/pdb.php?prot=STAP2_HUMAN&from=18&to=130&var=L103F	ENST00000594605		ENSG00000178078	30430		34	2.28		HGNC	p.L103F		STAP2		SNV							ENST00000600324	protein_coding	getma.org/?cm=var&var=hg19,19,4332064,C,A&fts=all		Gene3D:2.30.29.30,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF2,Superfamily_domains:SSF50729		L/F		A	medium	433/1426		getma.org/?cm=msa&ty=f&p=STAP2_HUMAN&rb=18&re=130&var=L103F	deleterious(0)					STAP2,missense_variant,p.Leu103Phe,ENST00000600324,NM_017720.2;STAP2,missense_variant,p.Leu103Phe,ENST00000594605,NM_001013841.1;STAP2,missense_variant,p.Leu103Phe,ENST00000601482,;STAP2,upstream_gene_variant,,ENST00000598443,;STAP2,upstream_gene_variant,,ENST00000597593,;STAP2,3_prime_UTR_variant,,ENST00000599736,;STAP2,upstream_gene_variant,,ENST00000602007,;STAP2,upstream_gene_variant,,ENST00000596242,;STAP2,upstream_gene_variant,,ENST00000601179,;							MODERATE	309/1212	L103F	STAP2_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000471052		CCDS45926.1			1	
IDH1	0	LGGM	GRCh37	2	209113112	209113112	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000345146.2:c.395G>T	p.Arg132Leu	p.R132L	ENST00000345146	NM_005896.2	132	cGt/cTt	0	1		UPI000012D1B4	0	getma.org/pdb.php?prot=IDHC_HUMAN&from=9&to=401&var=R132L	ENST00000345146		ENSG00000138413	5382		37	4.54		HGNC	p.R132L	COSM28750	IDH1		SNV			1			1	ENST00000415282	protein_coding	getma.org/?cm=var&var=hg19,2,209113112,C,A&fts=all		hmmpanther:PTHR11822,Gene3D:3.40.718.10,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659		R/L		A	high	680/2382		getma.org/?cm=msa&ty=f&p=IDHC_HUMAN&rb=9&re=401&var=R132L	deleterious_low_confidence(0)	Q6FHQ6_HUMAN,Q0QER2_HUMAN,C9JLU6_HUMAN,C9JJE5_HUMAN,C9J4N6_HUMAN,B4DXS4_HUMAN				IDH1,missense_variant,p.Arg132Leu,ENST00000415913,NM_001282387.1;IDH1,missense_variant,p.Arg132Leu,ENST00000345146,NM_005896.2;IDH1,missense_variant,p.Arg132Leu,ENST00000446179,NM_001282386.1;IDH1,missense_variant,p.Arg132Leu,ENST00000415282,;IDH1,downstream_gene_variant,,ENST00000417583,;IDH1,downstream_gene_variant,,ENST00000451391,;IDH1,non_coding_transcript_exon_variant,,ENST00000462386,;IDH1,downstream_gene_variant,,ENST00000481557,;					1		MODERATE	395/1245	R132L	IDHC_HUMAN			Transcript		possibly_damaging(0.833)	.	ENSP00000260985		CCDS2381.1			1	
ALPP	0	LGGM	GRCh37	2	233244490	233244490	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000392027.2:c.501G>T	p.Val167=	p.V167=	ENST00000392027	NM_001632.3	167	gtG/gtT	0	1	1	UPI0000131FF9	0		ENST00000392027		ENSG00000163283	439		18			HGNC	p.V167V		ALPP		SNV							ENST00000392027	protein_coding			hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649,Prints_domain:PR00113		V		T		770/2971							YES	ALPP,synonymous_variant,p.=,ENST00000392027,NM_001632.3;AC068134.8,non_coding_transcript_exon_variant,,ENST00000439072,;AC068134.8,intron_variant,,ENST00000441266,;ALPP,non_coding_transcript_exon_variant,,ENST00000474529,;ALPP,upstream_gene_variant,,ENST00000485563,;							LOW	501/1608		PPB1_HUMAN			Transcript			.	ENSP00000375881		CCDS2490.1			1	
TPD52	0	LGGM	GRCh37	8	80950414	80950414	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000379097.3:c.612G>T	p.Ser204=	p.S204=	ENST00000379097	NM_001025252.1	204	tcG/tcT	0	1	1	UPI000000D76B	0		ENST00000379097		ENSG00000076554	12005		49			HGNC	p.S204S		TPD52		SNV							ENST00000379097	protein_coding			Pfam_domain:PF04201,hmmpanther:PTHR19307,hmmpanther:PTHR19307:SF12,Low_complexity_(Seg):seg		S		A		975/2563							YES	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,intron_variant,,ENST00000537855,;RP11-92K15.3,upstream_gene_variant,,ENST00000607017,;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,non_coding_transcript_exon_variant,,ENST00000523193,;TPD52,non_coding_transcript_exon_variant,,ENST00000523319,;TPD52,non_coding_transcript_exon_variant,,ENST00000521618,;TPD52,downstream_gene_variant,,ENST00000521241,;TPD52,downstream_gene_variant,,ENST00000518517,;TPD52,downstream_gene_variant,,ENST00000517445,;TPD52,downstream_gene_variant,,ENST00000524194,;							LOW	612/675		TPD52_HUMAN			Transcript			.	ENSP00000368391		CCDS34912.1			1	
LAIR1	0	LGGM	GRCh37	19	54876403	54876403	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000391742.2:c.9C>A	p.Pro3=	p.P3=	ENST00000391742		3	ccC/ccA	0	1	1	UPI000011A058	0		ENST00000391742		ENSG00000167613	6477		11			HGNC	p.P3P	rs777781568	LAIR1	0.000246	SNV							ENST00000436513	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF12,Cleavage_site_(Signalp):SignalP-noTM		P		T		162/1610	1.51E-05						YES	LAIR1,synonymous_variant,p.=,ENST00000434277,NM_002287.3;LAIR1,synonymous_variant,p.=,ENST00000391742,;LAIR1,synonymous_variant,p.=,ENST00000348231,NM_021706.2;LAIR1,synonymous_variant,p.=,ENST00000474878,;LAIR1,intron_variant,,ENST00000391743,;LAIR1,intron_variant,,ENST00000313038,;LAIR1,intron_variant,,ENST00000438193,;LAIR1,upstream_gene_variant,,ENST00000444687,;LAIR1,non_coding_transcript_exon_variant,,ENST00000484116,;LAIR1,intron_variant,,ENST00000463489,;LAIR1,intron_variant,,ENST00000480122,;LAIR1,intron_variant,,ENST00000468656,;LAIR1,synonymous_variant,p.=,ENST00000440716,;LAIR1,synonymous_variant,p.=,ENST00000418556,;LAIR1,synonymous_variant,p.=,ENST00000423853,;LAIR1,synonymous_variant,p.=,ENST00000391741,;LAIR1,synonymous_variant,p.=,ENST00000436513,;LAIR1,synonymous_variant,p.=,ENST00000427131,;LAIR1,synonymous_variant,p.=,ENST00000420483,;LAIR1,non_coding_transcript_exon_variant,,ENST00000467269,;LAIR1,upstream_gene_variant,,ENST00000498511,;LAIR1,downstream_gene_variant,,ENST00000596835,;							LOW	9/864		LAIR1_HUMAN			Transcript			.	ENSP00000375622	4.12E-05	CCDS12891.1			1	
FOXD2	0	LGGM	GRCh37	1	47904301	47904301	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000334793.5:c.494G>T	p.Arg165Leu	p.R165L	ENST00000334793	NM_004474.3	165	cGg/cTg	0	1	1	UPI000014153E	0	getma.org/pdb.php?prot=FOXD2_HUMAN&from=127&to=222&var=R165L	ENST00000334793		ENSG00000186564	3803		44	3.51		HGNC	p.R165L		FOXD2		SNV							ENST00000334793	protein_coding	getma.org/?cm=var&var=hg19,1,47904301,G,T&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF85,SMART_domains:SM00339,Superfamily_domains:SSF46785		R/L		T	high	2613/4675		getma.org/?cm=msa&ty=f&p=FOXD2_HUMAN&rb=127&re=222&var=R165L	deleterious(0)				YES	FOXD2,missense_variant,p.Arg165Leu,ENST00000334793,NM_004474.3;FOXD2-AS1,upstream_gene_variant,,ENST00000445551,;							MODERATE	494/1488	R165L	FOXD2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000335493		CCDS30708.1			1	
TAB2	0	LGGM	GRCh37	6	149700321	149700321	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000367456.1:c.1270G>T	p.Gly424Trp	p.G424W	ENST00000367456		424	Ggg/Tgg	0	1	1	UPI0000073C75	0	NA	ENST00000367456		ENSG00000055208	17075		25	1.04		HGNC	p.G424W		TAB2		SNV			1				ENST00000286332	protein_coding	getma.org/?cm=var&var=hg19,6,149700321,G,T&fts=all		hmmpanther:PTHR10351:SF27,hmmpanther:PTHR10351		G/W		T	low	1847/4553		getma.org/?cm=msa&ty=f&p=TAB2_HUMAN&rb=380&re=579&var=G424W	deleterious(0)	U3KQR0_HUMAN			YES	TAB2,missense_variant,p.Gly424Trp,ENST00000367456,;TAB2,missense_variant,p.Gly424Trp,ENST00000538427,NM_015093.4;TAB2,missense_variant,p.Gly424Trp,ENST00000286332,;TAB2,missense_variant,p.Gly392Trp,ENST00000536230,;TAB2,missense_variant,p.Gly424Trp,ENST00000392282,;TAB2,downstream_gene_variant,,ENST00000606202,;TAB2,missense_variant,p.Gly424Trp,ENST00000470466,;							MODERATE	1270/2082	G424W	TAB2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000356426		CCDS5214.1			1	
UGT8	0	LGGM	GRCh37	4	115544628	115544628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	4	.	.	ENST00000310836.6:c.592G>T	p.Gly198Cys	p.G198C	ENST00000310836	NM_001128174.1	198	Ggt/Tgt	0	1	1	UPI000013F094	0	NA	ENST00000310836		ENSG00000174607	12555		53	0		HGNC	p.G198C		UGT8		SNV							ENST00000310836	protein_coding	getma.org/?cm=var&var=hg19,4,115544628,G,T&fts=all		Gene3D:3.40.50.2000,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF169,Superfamily_domains:SSF53756		G/C		T	neutral	1114/4084		getma.org/?cm=msa&ty=f&p=CGT_HUMAN&rb=21&re=510&var=G198C	deleterious(0.02)	D6RFW2_HUMAN			YES	UGT8,missense_variant,p.Gly198Cys,ENST00000310836,NM_001128174.1;UGT8,missense_variant,p.Gly198Cys,ENST00000394511,NM_003360.3;UGT8,downstream_gene_variant,,ENST00000507710,;							MODERATE	592/1626	G198C	CGT_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000311648		CCDS3705.1			1	
DGCR2	0	LGGM	GRCh37	22	19028712	19028712	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000263196.7:c.1255G>T	p.Gly419Ter	p.G419*	ENST00000263196	NM_001184781.1	419	Gga/Tga	0	1	1	UPI0000001613	0	NA	ENST00000263196		ENSG00000070413	2845		11	0		HGNC	p.G195X		DGCR2		SNV							ENST00000389262	protein_coding	getma.org/?cm=var&var=hg19,22,19028712,C,A&fts=all		hmmpanther:PTHR15256		G/*		A	NA	1503/4480		NA		B7Z8B7_HUMAN,B7Z3C4_HUMAN			YES	DGCR2,stop_gained,p.Gly419Ter,ENST00000263196,NM_001184781.1,NM_005137.2;DGCR2,stop_gained,p.Gly378Ter,ENST00000537045,NM_001173533.1,NM_001173534.1;DGCR2,3_prime_UTR_variant,,ENST00000545799,;DGCR11,downstream_gene_variant,,ENST00000609958,;Y_RNA,upstream_gene_variant,,ENST00000384012,;DGCR2,stop_gained,p.Gly195Ter,ENST00000389262,;DGCR2,non_coding_transcript_exon_variant,,ENST00000467659,;							HIGH	1255/1653	G419*	IDD_HUMAN			Transcript			.	ENSP00000263196		CCDS33598.1			1	
NLGN1	0	LGGM	GRCh37	3	173993296	173993296	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000457714.1:c.838C>A	p.Arg280Ser	p.R280S	ENST00000457714	NM_014932.3	280	Cgt/Agt	0	1	1	UPI0000072F54	0	getma.org/pdb.php?prot=NLGN1_HUMAN&from=29&to=623&var=R297S	ENST00000457714		ENSG00000169760	14291		38	0		HGNC	p.R320S		NLGN1		SNV							ENST00000415045	protein_coding	getma.org/?cm=var&var=hg19,3,173993296,C,A&fts=all		Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52		R/S		A	neutral	1267/8242		getma.org/?cm=msa&ty=f&p=NLGN1_HUMAN&rb=29&re=623&var=R297S	tolerated_low_confidence(0.25)				YES	NLGN1,missense_variant,p.Arg280Ser,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Arg280Ser,ENST00000361589,;NLGN1,missense_variant,p.Arg280Ser,ENST00000545397,;NLGN1,missense_variant,p.Arg320Ser,ENST00000401917,;NLGN1,missense_variant,p.Arg320Ser,ENST00000415045,;NLGN1,splice_region_variant,,ENST00000469727,;NLGN1,splice_region_variant,,ENST00000469564,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,non_coding_transcript_exon_variant,,ENST00000490929,;							MODERATE	838/2472	R297S	NLGN1_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000392500		CCDS3222.1			1	
TNFAIP8L3	0	LGGM	GRCh37	15	51350092	51350092	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000327536.5:c.865G>T	p.Glu289Ter	p.E289*	ENST00000327536	NM_207381.2	289	Gag/Tag	0	1	1	UPI00004C7A8B	0	NA	ENST00000327536		ENSG00000183578	20620		28	0		HGNC	p.E289X	COSM962668	TNFAIP8L3		SNV						1	ENST00000327536	protein_coding	getma.org/?cm=var&var=hg19,15,51350092,C,A&fts=all		hmmpanther:PTHR12757:SF5,hmmpanther:PTHR12757,Pfam_domain:PF05527		E/*		A	NA	965/2262		NA					YES	TNFAIP8L3,stop_gained,p.Glu289Ter,ENST00000327536,NM_207381.2;RP11-108K3.1,intron_variant,,ENST00000559909,;					1		HIGH	865/879	E289*	TP8L3_HUMAN			Transcript			.	ENSP00000328016		CCDS32241.1			1	
LAMA2	0	LGGM	GRCh37	6	129419532	129419532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000421865.2:c.611C>A	p.Ser204Tyr	p.S204Y	ENST00000421865	NM_001079823.1	204	tCc/tAc	0	1	1	UPI00003673E0	0	getma.org/pdb.php?prot=LAMA2_HUMAN&from=39&to=285&var=S204Y	ENST00000421865		ENSG00000196569	6482		41	3.89		HGNC	p.S204Y		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129419532,C,A&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00136		S/Y		A	high	660/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=39&re=285&var=S204Y	deleterious(0)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Ser204Tyr,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	611/9369	S204Y	LAMA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000400365		CCDS5138.1			1	
MCM2	0	LGGM	GRCh37	3	127339925	127339925	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000265056.7:c.2458C>A	p.Arg820Ser	p.R820S	ENST00000265056	NM_004526.3	820	Cgc/Agc	0	1	1	UPI00001A3E4E	0	NA	ENST00000265056		ENSG00000073111	6944		49	2.83		HGNC	p.R820S		MCM2		SNV							ENST00000265056	protein_coding	getma.org/?cm=var&var=hg19,3,127339925,C,A&fts=all		hmmpanther:PTHR11630:SF44,hmmpanther:PTHR11630		R/S		A	medium	2702/3619		getma.org/?cm=msa&ty=f&p=MCM2_HUMAN&rb=804&re=904&var=R820S	deleterious(0.04)	Q9BWF4_HUMAN,C9JZ21_HUMAN,C9J013_HUMAN			YES	MCM2,missense_variant,p.Arg820Ser,ENST00000265056,NM_004526.3;MCM2,missense_variant,p.Arg752Ser,ENST00000491422,;MCM2,non_coding_transcript_exon_variant,,ENST00000468414,;MCM2,3_prime_UTR_variant,,ENST00000474964,;MCM2,3_prime_UTR_variant,,ENST00000477668,;MCM2,downstream_gene_variant,,ENST00000473785,;							MODERATE	2458/2715	R820S	MCM2_HUMAN			Transcript		benign(0.195)	.	ENSP00000265056		CCDS3043.1			1	
HELZ2	0	LGGM	GRCh37	20	62192768	62192768	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000467148.1:c.6888G>T	p.Ser2296=	p.S2296=	ENST00000467148	NM_001037335.2	2296	tcG/tcT	0	1	1	UPI0000246BF7	0		ENST00000467148		ENSG00000130589	30021		30			HGNC	p.S2296S		HELZ2		SNV							ENST00000467148	protein_coding			hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Gene3D:3.40.50.300,Pfam_domain:PF13086,Superfamily_domains:SSF52540		S		A		6958/8064				Q3C1U4_HUMAN			YES	HELZ2,synonymous_variant,p.=,ENST00000467148,NM_001037335.2;HELZ2,synonymous_variant,p.=,ENST00000427522,NM_033405.3;C20orf195,downstream_gene_variant,,ENST00000370098,NM_024059.2;C20orf195,downstream_gene_variant,,ENST00000370097,;HELZ2,non_coding_transcript_exon_variant,,ENST00000478861,;							LOW	6888/7950		HELZ2_HUMAN			Transcript			.	ENSP00000417401		CCDS33508.1			1	
FGF3	0	LGGM	GRCh37	11	69625362	69625362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000334134.2:c.431G>T	p.Arg144Leu	p.R144L	ENST00000334134	NM_005247.2	144	cGc/cTc	0	1	1	UPI0000040661	0	getma.org/pdb.php?prot=FGF3_HUMAN&from=44&to=179&var=R144L	ENST00000334134		ENSG00000186895	3681		14	1.75		HGNC	p.R144L		FGF3		SNV			1				ENST00000334134	protein_coding	getma.org/?cm=var&var=hg19,11,69625362,C,A&fts=all		hmmpanther:PTHR11486:SF26,hmmpanther:PTHR11486,Pfam_domain:PF00167,Gene3D:2.80.10.50,SMART_domains:SM00442,Superfamily_domains:SSF50353		R/L		A	low	522/892		getma.org/?cm=msa&ty=f&p=FGF3_HUMAN&rb=44&re=179&var=R144L	tolerated(0.05)				YES	FGF3,missense_variant,p.Arg144Leu,ENST00000334134,NM_005247.2;							MODERATE	431/720	R144L	FGF3_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000334122		CCDS8195.1			1	
POT1	0	LGGM	GRCh37	7	124467306	124467306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000357628.3:c.1648G>T	p.Asp550Tyr	p.D550Y	ENST00000357628	NM_015450.2	550	Gat/Tat	0	1	1	UPI0000073E3F	0	NA	ENST00000357628		ENSG00000128513	17284		46	2.515		HGNC	p.D419Y		POT1		SNV			1				ENST00000393329	protein_coding	getma.org/?cm=var&var=hg19,7,124467306,C,A&fts=all		hmmpanther:PTHR14513,hmmpanther:PTHR14513:SF2		D/Y		A	medium	2247/4080		getma.org/?cm=msa&ty=f&p=POTE1_HUMAN&rb=542&re=634&var=D550Y	deleterious(0)	C9JPG9_HUMAN,A8MTK3_HUMAN			YES	POT1,missense_variant,p.Asp550Tyr,ENST00000357628,NM_015450.2;POT1,missense_variant,p.Asp419Tyr,ENST00000393329,NM_001042594.1;POT1,missense_variant,p.Asp49Tyr,ENST00000436534,;POT1,missense_variant,p.Asp550Tyr,ENST00000609106,;POT1,3_prime_UTR_variant,,ENST00000608057,;POT1,3_prime_UTR_variant,,ENST00000607932,;POT1,upstream_gene_variant,,ENST00000430927,;							MODERATE	1648/1905	D550Y	POTE1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000350249		CCDS5793.1			1	
SEC24D	0	LGGM	GRCh37	4	119659495	119659495	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	4	.	.	ENST00000280551.6:c.2417G>T	p.Arg806Leu	p.R806L	ENST00000280551		806	cGg/cTg	0	1	1	UPI00001AEA4F	0	getma.org/pdb.php?prot=SC24D_HUMAN&from=782&to=885&var=R806L	ENST00000280551		ENSG00000150961	10706		56	2.325		HGNC	p.R362L	COSM585623	SEC24D		SNV			1			1	ENST00000429811	protein_coding	getma.org/?cm=var&var=hg19,4,119659495,C,A&fts=all		hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803,Pfam_domain:PF04815,Superfamily_domains:SSF81811		R/L		A	medium	2656/4030		getma.org/?cm=msa&ty=f&p=SC24D_HUMAN&rb=782&re=885&var=R806L	deleterious(0.02)	E9PDM8_HUMAN,D6RGJ5_HUMAN			YES	SEC24D,missense_variant,p.Arg807Leu,ENST00000379735,NM_014822.2;SEC24D,missense_variant,p.Arg806Leu,ENST00000280551,;SEC24D,missense_variant,p.Arg362Leu,ENST00000419654,;SEC24D,missense_variant,p.Arg362Leu,ENST00000429811,;SEC24D,missense_variant,p.Arg437Leu,ENST00000511481,;SEC24D,non_coding_transcript_exon_variant,,ENST00000505134,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;SEC24D,non_coding_transcript_exon_variant,,ENST00000502526,;					1		MODERATE	2417/3099	R806L	SC24D_HUMAN			Transcript		benign(0.088)	.	ENSP00000280551		CCDS3710.1			1	
HSPA14	0	LGGM	GRCh37	10	14884798	14884798	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000378372.3:c.221+2642G>T		*74*	ENST00000378372	NM_016299.3			0	1	1	UPI000013D6A8	0		ENST00000378372		ENSG00000187522	29526		43			HGNC	p.R83L		HSPA14		SNV							ENST00000309584	protein_coding							T		-/1904				B4DYI5_HUMAN			YES	HSPA14,intron_variant,,ENST00000378372,NM_016299.3;HSPA14,intron_variant,,ENST00000437161,NM_001278205.1;HSPA14,intron_variant,,ENST00000441647,;CDNF,upstream_gene_variant,,ENST00000378442,;CDNF,upstream_gene_variant,,ENST00000465530,NM_001029954.2;HSPA14,non_coding_transcript_exon_variant,,ENST00000493863,;CDNF,upstream_gene_variant,,ENST00000378441,;HSPA14,downstream_gene_variant,,ENST00000493178,;							MODIFIER	-/1530		HSP7E_HUMAN			Transcript			.	ENSP00000367623		CCDS7103.1			1	
EPHA2	0	LGGM	GRCh37	1	16464594	16464594	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	4	.	.	ENST00000358432.5:c.1066G>T	p.Gly356Cys	p.G356C	ENST00000358432	NM_004431.3	356	Ggc/Tgc	0	1	1	UPI00000731AB	0	getma.org/pdb.php?prot=EPHA2_HUMAN&from=330&to=424&var=G356C	ENST00000358432		ENSG00000142627	3386		10	3.385		HGNC	p.G356C		EPHA2		SNV			1				ENST00000358432	protein_coding	getma.org/?cm=var&var=hg19,1,16464594,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF306,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/C		A	medium	1221/3964		getma.org/?cm=msa&ty=f&p=EPHA2_HUMAN&rb=330&re=424&var=G356C	deleterious(0)	Q96HF4_HUMAN,Q8IZL0_HUMAN			YES	EPHA2,missense_variant,p.Gly356Cys,ENST00000358432,NM_004431.3;EPHA2,non_coding_transcript_exon_variant,,ENST00000480202,;EPHA2,upstream_gene_variant,,ENST00000462805,;							MODERATE	1066/2931	G356C	EPHA2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000351209		CCDS169.1			1	
MARS2	0	LGGM	GRCh37	2	198571035	198571035	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000282276.6:c.906G>T	p.Pro302=	p.P302=	ENST00000282276	NM_138395.3	302	ccG/ccT	0	1	1	UPI00000492CE	0		ENST00000282276		ENSG00000247626	25133		47			HGNC	p.P302P		MARS2		SNV			1				ENST00000282276	protein_coding			hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF63,Pfam_domain:PF09334,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00398,Superfamily_domains:SSF52374		P		T		949/3027							YES	MARS2,synonymous_variant,p.=,ENST00000282276,NM_138395.3;AC011997.1,intron_variant,,ENST00000409845,;							LOW	906/1782		SYMM_HUMAN			Transcript			.	ENSP00000282276		CCDS33358.1			1	
SLC26A8	0	LGGM	GRCh37	6	35930390	35930390	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000490799.1:c.1374G>T	p.Leu458=	p.L458=	ENST00000490799	NM_052961.3	458	ctG/ctT	0	1		UPI00000739C0	0		ENST00000355574		ENSG00000112053	14468		35			HGNC	p.L353L		SLC26A8		SNV			1				ENST00000394602	protein_coding			Pfam_domain:PF00916,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF11,Transmembrane_helices:TMhelix		L		A		1545/3463								SLC26A8,synonymous_variant,p.=,ENST00000490799,NM_052961.3;SLC26A8,synonymous_variant,p.=,ENST00000355574,NM_001193476.1;SLC26A8,synonymous_variant,p.=,ENST00000394602,NM_138718.2;SLC26A8,synonymous_variant,p.=,ENST00000465492,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000486155,;SLC26A8,non_coding_transcript_exon_variant,,ENST00000466805,;							LOW	1374/2913		S26A8_HUMAN			Transcript			.	ENSP00000347778		CCDS4813.1			1	
TRIM22	0	LGGM	GRCh37	11	5729464	5729464	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000379965.3:c.835C>A	p.Arg279=	p.R279=	ENST00000379965	NM_001199573.1	279	Cga/Aga	0	1	1	UPI0000074222	0		ENST00000379965		ENSG00000132274	16379		36			HGNC	p.R247R		TRIM22		SNV							ENST00000454828	protein_coding			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF265		R		A		1112/2989				C9JIU5_HUMAN,C9J060_HUMAN			YES	TRIM22,synonymous_variant,p.=,ENST00000379965,NM_001199573.1,NM_006074.4;TRIM22,synonymous_variant,p.=,ENST00000444844,;TRIM22,synonymous_variant,p.=,ENST00000429063,;TRIM22,synonymous_variant,p.=,ENST00000454828,;TRIM22,synonymous_variant,p.=,ENST00000450670,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,3_prime_UTR_variant,,ENST00000414897,;TRIM22,non_coding_transcript_exon_variant,,ENST00000480395,;TRIM22,non_coding_transcript_exon_variant,,ENST00000493494,;							LOW	835/1497		TRI22_HUMAN			Transcript			.	ENSP00000369299		CCDS41612.1			1	
HTR5A	0	LGGM	GRCh37	7	154863050	154863050	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000287907.2:c.441G>T	p.Met147Ile	p.M147I	ENST00000287907	NM_024012.3	147	atG/atT	0	1	1	UPI000004477E	0	getma.org/pdb.php?prot=5HT5A_HUMAN&from=57&to=338&var=M147I	ENST00000287907		ENSG00000157219	5300		23	-0.84		HGNC	p.M147I		HTR5A		SNV							ENST00000287907	protein_coding	getma.org/?cm=var&var=hg19,7,154863050,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14,Superfamily_domains:SSF81321		M/I		T	neutral	1017/2912		getma.org/?cm=msa&ty=f&p=5HT5A_HUMAN&rb=57&re=338&var=M147I	tolerated(0.28)	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN			YES	HTR5A,missense_variant,p.Met147Ile,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,;							MODERATE	441/1074	M147I	5HT5A_HUMAN			Transcript		benign(0)	.	ENSP00000287907		CCDS5936.1			1	
KIAA1199	0	LGGM	GRCh37	15	81181065	81181065	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000394685.3:c.892C>A	p.Arg298=	p.R298=	ENST00000394685		298	Cgg/Agg	0	1		UPI00001D7799	0		ENST00000220244		ENSG00000103888	29213		48			HGNC	p.R298R		KIAA1199		SNV							ENST00000394685	protein_coding			hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15		R		A		1180/7226								KIAA1199,synonymous_variant,p.=,ENST00000394685,;KIAA1199,synonymous_variant,p.=,ENST00000356249,;KIAA1199,synonymous_variant,p.=,ENST00000220244,NM_018689.1;							LOW	892/4086		K1199_HUMAN			Transcript			.	ENSP00000220244		CCDS10315.1			1	
LAMB2	0	LGGM	GRCh37	3	49163851	49163851	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000418109.1:c.2098G>T	p.Gly700Ter	p.G700*	ENST00000418109	NM_002292.3	700	Gga/Tga	0	1		UPI000013EA62	0	NA	ENST00000305544		ENSG00000172037	6487		17	0		HGNC	p.G700X		LAMB2		SNV			1				ENST00000418109	protein_coding	getma.org/?cm=var&var=hg19,3,49163851,C,A&fts=all		PROSITE_profiles:PS51116,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36		G/*		A	NA	2251/5643		NA		F5H520_HUMAN				LAMB2,stop_gained,p.Gly700Ter,ENST00000418109,NM_002292.3;LAMB2,stop_gained,p.Gly700Ter,ENST00000305544,;LAMB2,downstream_gene_variant,,ENST00000494831,;LAMB2,non_coding_transcript_exon_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000464891,;LAMB2,non_coding_transcript_exon_variant,,ENST00000493571,;LAMB2,non_coding_transcript_exon_variant,,ENST00000488638,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,upstream_gene_variant,,ENST00000477701,;LAMB2,upstream_gene_variant,,ENST00000483057,;LAMB2,upstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,downstream_gene_variant,,ENST00000483321,;							HIGH	2098/5397	G700*	LAMB2_HUMAN			Transcript			.	ENSP00000307156		CCDS2789.1			1	
PES1	0	LGGM	GRCh37	22	30976070	30976070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000354694.7:c.1139G>T	p.Arg380Leu	p.R380L	ENST00000354694	NM_014303.3	380	cGg/cTg	0	1	1	UPI0000001618	0	getma.org/pdb.php?prot=PESC_HUMAN&from=322&to=402&var=R380L	ENST00000354694		ENSG00000100029	8848		35	3.47		HGNC	p.R375L		PES1		SNV							ENST00000335214	protein_coding	getma.org/?cm=var&var=hg19,22,30976070,C,A&fts=all		PROSITE_profiles:PS50172,HAMAP:MF_03028,hmmpanther:PTHR12221,Pfam_domain:PF00533,Gene3D:3.40.50.10190,SMART_domains:SM00292,Superfamily_domains:SSF52113		R/L		A	medium	1246/2295		getma.org/?cm=msa&ty=f&p=PESC_HUMAN&rb=322&re=402&var=R380L	deleterious(0)	B3KXD6_HUMAN,B2RDF2_HUMAN			YES	PES1,missense_variant,p.Arg241Leu,ENST00000402281,NM_001282327.1;PES1,missense_variant,p.Arg241Leu,ENST00000405677,NM_001282328.1;PES1,missense_variant,p.Arg380Leu,ENST00000354694,NM_014303.3,NM_001243225.1;PES1,missense_variant,p.Arg363Leu,ENST00000402284,;PES1,missense_variant,p.Arg375Leu,ENST00000335214,;PES1,upstream_gene_variant,,ENST00000441668,;PES1,upstream_gene_variant,,ENST00000488719,;PES1,downstream_gene_variant,,ENST00000406208,;PES1,downstream_gene_variant,,ENST00000477762,;							MODERATE	1139/1767	R380L	PESC_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000346725		CCDS13880.1			1	
PIK3C2B	0	LGGM	GRCh37	1	204435933	204435933	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000367187.3:c.934-1486G>T		*312*	ENST00000367187	NM_002646.3			0	1	1	UPI00002056D1	0		ENST00000367187		ENSG00000133056	8972		48			HGNC	p.R78L		PIK3C2B		SNV							ENST00000367184	protein_coding							A		-/7686				Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN			YES	PIK3C2B,missense_variant,p.Arg78Leu,ENST00000367184,;PIK3C2B,intron_variant,,ENST00000367187,NM_002646.3;PIK3C2B,intron_variant,,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;							MODIFIER	-/4905		P3C2B_HUMAN			Transcript			.	ENSP00000356155		CCDS1446.1			1	
KRTAP5-1	0	LGGM	GRCh37	11	1605808	1605808	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000382171.2:c.672G>T	p.Ala224=	p.A224=	ENST00000382171	NM_001005922.1	224	gcG/gcT	0	1	1	UPI000037605D	0		ENST00000382171		ENSG00000205869	23596		36			HGNC	p.A224A		KRTAP5-1		SNV							ENST00000382171	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262		A		A		706/942							YES	KRTAP5-1,synonymous_variant,p.=,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,;							LOW	672/837		KRA51_HUMAN			Transcript			.	ENSP00000371606		CCDS31330.1			1	
CELSR2	0	LGGM	GRCh37	1	109811208	109811208	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	4	.	.	ENST00000271332.3:c.6324G>T	p.Leu2108=	p.L2108=	ENST00000271332	NM_001408.2	2108	ctG/ctT	0	1	1	UPI00000015B6	0		ENST00000271332		ENSG00000143126	3231		7			HGNC	p.L2108L		CELSR2		SNV							ENST00000271332	protein_coding			Pfam_domain:PF12003,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF32		L		T		6385/10534							YES	CELSR2,synonymous_variant,p.=,ENST00000271332,NM_001408.2;CELSR2,upstream_gene_variant,,ENST00000498157,;CELSR2,upstream_gene_variant,,ENST00000489018,;CELSR2,downstream_gene_variant,,ENST00000459940,;							LOW	6324/8772		CELR2_HUMAN			Transcript			.	ENSP00000271332		CCDS796.1			1	
HYI	0	LGGM	GRCh37	1	43917087	43917087	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000372425.4:c.754C>A	p.Pro252Thr	p.P252T	ENST00000372425		252	Cct/Act	0	1	1	UPI0000EE302B	0	getma.org/pdb.php?prot=HYI_HUMAN&from=231&to=277&var=P252T	ENST00000372425		ENSG00000178922	26948		18	3.68		HGNC	p.P204T		HYI		SNV							ENST00000372426	protein_coding	getma.org/?cm=var&var=hg19,1,43917087,G,T&fts=all		Gene3D:3.20.20.150,PIRSF_domain:PIRSF006241,hmmpanther:PTHR12110,hmmpanther:PTHR12110:SF3,Superfamily_domains:SSF51658		P/T		T	high	950/1115		getma.org/?cm=msa&ty=f&p=HYI_HUMAN&rb=231&re=277&var=P252T	deleterious(0)				YES	HYI,missense_variant,p.Pro252Thr,ENST00000372425,;HYI,missense_variant,p.Pro179Thr,ENST00000583037,NM_001190880.2;HYI,missense_variant,p.Pro277Thr,ENST00000372434,NM_001243526.1;HYI,missense_variant,p.Pro252Thr,ENST00000486909,;HYI,missense_variant,p.Pro213Thr,ENST00000372430,;HYI,missense_variant,p.Pro204Thr,ENST00000372426,;HYI,missense_variant,p.Pro161Thr,ENST00000470662,;SZT2,3_prime_UTR_variant,,ENST00000562955,NM_015284.3;SZT2,3_prime_UTR_variant,,ENST00000372442,;HYI,intron_variant,,ENST00000372432,NM_031207.5;HYI,intron_variant,,ENST00000372433,;HYI,intron_variant,,ENST00000487366,;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,,ENST00000483618,;HYI,intron_variant,,ENST00000372427,;HYI,downstream_gene_variant,,ENST00000469587,;HYI,downstream_gene_variant,,ENST00000496142,;							MODERATE	754/834	P252T	HYI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361502		CCDS53309.1			1	
NLRP9	0	LGGM	GRCh37	19	56235425	56235425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000332836.2:c.2080G>T	p.Gly694Cys	p.G694C	ENST00000332836	NM_176820.2	694	Ggc/Tgc	0	1	1	UPI00001B6B39	0	getma.org/pdb.php?prot=NALP9_HUMAN&from=515&to=714&var=G694C	ENST00000332836		ENSG00000185792	22941		41	1.84		HGNC	p.G694C	rs375031940	NLRP9	6.06E-05	SNV	T:0						ENST00000332836	protein_coding	getma.org/?cm=var&var=hg19,19,56235425,C,A&fts=all	T:0	hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047		G/C	T:0.0001	A	low	2108/3484	1.50E-05	getma.org/?cm=msa&ty=f&p=NALP9_HUMAN&rb=515&re=714&var=G694C	deleterious(0)		T:0.0014	T:0	YES	NLRP9,missense_variant,p.Gly694Cys,ENST00000332836,NM_176820.2;NLRP9,missense_variant,p.Gly694Cys,ENST00000590200,;		T:0.0002					MODERATE	2080/2976	G694C	NALP9_HUMAN		T:0	Transcript		probably_damaging(0.993)	.	ENSP00000331857	1.65E-05	CCDS12934.1		T:0	1	
ZNF507	0	LGGM	GRCh37	19	32843881	32843881	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000311921.4:c.145C>A	p.Gln49Lys	p.Q49K	ENST00000311921	NM_014910.4	49	Cag/Aag	0	1	1	UPI0000202010	0	NA	ENST00000311921		ENSG00000168813	23783		45	1.905		HGNC	p.Q49K		ZNF507		SNV							ENST00000544431	protein_coding	getma.org/?cm=var&var=hg19,19,32843881,C,A&fts=all		hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402		Q/K		A	medium	337/7638		getma.org/?cm=msa&ty=f&p=ZN507_HUMAN&rb=1&re=124&var=Q49K	tolerated(0.09)				YES	ZNF507,missense_variant,p.Gln49Lys,ENST00000311921,NM_014910.4,NM_001136156.1;ZNF507,missense_variant,p.Gln49Lys,ENST00000544431,;ZNF507,missense_variant,p.Gln49Lys,ENST00000355898,;ZNF507,non_coding_transcript_exon_variant,,ENST00000587084,;							MODERATE	145/2862	Q49K	ZN507_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000312277		CCDS32985.1			1	
SOX9	0	LGGM	GRCh37	17	70119886	70119886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000245479.2:c.888G>T	p.Gln296His	p.Q296H	ENST00000245479	NM_000346.3	296	caG/caT	0	1	1	UPI00000009D8	0	NA	ENST00000245479		ENSG00000125398	11204		18	3.73		HGNC	p.Q296H		SOX9		SNV			1				ENST00000245479	protein_coding	getma.org/?cm=var&var=hg19,17,70119886,G,T&fts=all		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212		Q/H		T	high	1260/3935		getma.org/?cm=msa&ty=f&p=SOX9_HUMAN&rb=174&re=373&var=Q296H	deleterious(0)				YES	SOX9,missense_variant,p.Gln296His,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,;							MODERATE	888/1530	Q296H	SOX9_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000245479		CCDS11689.1			1	
C12orf77	0	LGGM	GRCh37	12	25148738	25148738	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000549828.1:c.407+3G>T		p.X136_splice	ENST00000549828	NM_001101339.1			0	1	1	UPI000016134F	0		ENST00000549828		ENSG00000226397	27282		31			HGNC	p.W82L		C12orf77		SNV							ENST00000549262	protein_coding							A		-/1516							YES	C12orf77,missense_variant,p.Trp82Leu,ENST00000549262,;C12orf77,missense_variant,p.Trp82Leu,ENST00000434912,;C12orf77,splice_region_variant,,ENST00000549828,NM_001101339.1;							LOW	-/438		CL097_HUMAN			Transcript			.	ENSP00000447146		CCDS44846.1			1	
WRAP73	0	LGGM	GRCh37	1	3548777	3548777	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000270708.7:c.1048G>T	p.Asp350Tyr	p.D350Y	ENST00000270708	NM_017818.3	350	Gac/Tac	0	1	1	UPI0000138EDF	0	NA	ENST00000270708		ENSG00000116213	12759		40	2.62		HGNC	p.D350Y		WRAP73		SNV							ENST00000378322	protein_coding	getma.org/?cm=var&var=hg19,1,3548777,C,A&fts=all		hmmpanther:PTHR16220:SF0,hmmpanther:PTHR16220,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:0047732		D/Y		A	medium	1122/1665		getma.org/?cm=msa&ty=f&p=WRP73_HUMAN&rb=252&re=451&var=D350Y	deleterious(0)	J3KTP2_HUMAN			YES	WRAP73,missense_variant,p.Asp350Tyr,ENST00000378322,;WRAP73,missense_variant,p.Asp350Tyr,ENST00000270708,NM_017818.3;WRAP73,incomplete_terminal_codon_variant,p.=,ENST00000424367,;TPRG1L,downstream_gene_variant,,ENST00000378344,NM_182752.3;TPRG1L,downstream_gene_variant,,ENST00000344579,;WRAP73,downstream_gene_variant,,ENST00000465916,;WRAP73,downstream_gene_variant,,ENST00000419924,;WRAP73,non_coding_transcript_exon_variant,,ENST00000471223,;WRAP73,downstream_gene_variant,,ENST00000497940,;WRAP73,downstream_gene_variant,,ENST00000469643,;WRAP73,downstream_gene_variant,,ENST00000494884,;							MODERATE	1048/1383	D350Y	WRP73_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000270708		CCDS48.1			1	
FAM24B	0	LGGM	GRCh37	10	124608904	124608904	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000368898.3:c.144G>T	p.Lys48Asn	p.K48N	ENST00000368898	NM_152644.2	48	aaG/aaT	0	1		UPI000013FA22	0		ENST00000368896		ENSG00000213185	23475		45			HGNC	p.K48N		FAM24B		SNV							ENST00000368898	protein_coding			Pfam_domain:PF15193		K/N		A		412/704			tolerated(0.14)					FAM24B,missense_variant,p.Lys48Asn,ENST00000368898,NM_152644.2;FAM24B,missense_variant,p.Lys48Asn,ENST00000368896,NM_001204364.1;CUZD1,5_prime_UTR_variant,,ENST00000368904,;CUZD1,intron_variant,,ENST00000545804,;CUZD1,upstream_gene_variant,,ENST00000392790,NM_022034.5;FAM24B,non_coding_transcript_exon_variant,,ENST00000462859,;CUZD1,upstream_gene_variant,,ENST00000368901,;CUZD1,upstream_gene_variant,,ENST00000368900,;CUZD1,upstream_gene_variant,,ENST00000338948,;							MODERATE	144/285		FA24B_HUMAN			Transcript		benign(0.018)	.	ENSP00000357892		CCDS31303.1			1	
ARAP2	0	LGGM	GRCh37	4	36160460	36160460	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000303965.4:c.2644G>T	p.Glu882Ter	p.E882*	ENST00000303965	NM_015230.3	882	Gag/Tag	0	1	1	UPI000013E917	0	NA	ENST00000303965		ENSG00000047365	16924		45	0		HGNC	p.E882X		ARAP2		SNV							ENST00000303965	protein_coding	getma.org/?cm=var&var=hg19,4,36160460,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR23180:SF228,hmmpanther:PTHR23180,Gene3D:2.30.29.30,Superfamily_domains:SSF50729		E/*		A	NA	3134/7514		NA		D6RAD6_HUMAN			YES	ARAP2,stop_gained,p.Glu882Ter,ENST00000303965,NM_015230.3;ARAP2,upstream_gene_variant,,ENST00000503904,;ARAP2,non_coding_transcript_exon_variant,,ENST00000512804,;ARAP2,downstream_gene_variant,,ENST00000508066,;							HIGH	2644/5115	E882*	ARAP2_HUMAN			Transcript			.	ENSP00000302895		CCDS3441.1			1	
NUFIP2	0	LGGM	GRCh37	17	27613667	27613667	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000225388.4:c.1345G>T	p.Gly449Trp	p.G449W	ENST00000225388	NM_020772.2	449	Ggg/Tgg	0	1	1	UPI00001B078D	0	NA	ENST00000225388		ENSG00000108256	17634		46	0.895		HGNC	p.G449W		NUFIP2		SNV							ENST00000225388	protein_coding	getma.org/?cm=var&var=hg19,17,27613667,C,A&fts=all		Pfam_domain:PF15293		G/W		A	low	1404/10850		getma.org/?cm=msa&ty=f&p=NUFP2_HUMAN&rb=1&re=693&var=G449W	deleterious(0)	A1L3A7_HUMAN			YES	NUFIP2,missense_variant,p.Gly449Trp,ENST00000225388,NM_020772.2;NUFIP2,intron_variant,,ENST00000579665,;							MODERATE	1345/2088	G449W	NUFP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000225388		CCDS32600.1			1	
RUNX1	0	LGGM	GRCh37	21	36206785	36206785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000300305.3:c.727C>A	p.Pro243Thr	p.P243T	ENST00000300305		243	Cca/Aca	0	1		UPI0000141569	0	NA	ENST00000344691		ENSG00000159216	10471		16	1.5		HGNC	p.P243T		RUNX1		SNV			1				ENST00000300305	protein_coding	getma.org/?cm=var&var=hg19,21,36206785,G,T&fts=all		hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374		P/T		T	low	2224/7274		getma.org/?cm=msa&ty=f&p=RUNX1_HUMAN&rb=183&re=358&var=P216T	tolerated(0.27)					RUNX1,missense_variant,p.Pro216Thr,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Pro243Thr,ENST00000300305,;RUNX1,missense_variant,p.Pro243Thr,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Pro231Thr,ENST00000325074,;RUNX1,missense_variant,p.Pro216Thr,ENST00000358356,NM_001122607.1;RUNX1,missense_variant,p.Pro231Thr,ENST00000399237,;RUNX1,intron_variant,,ENST00000399240,;RUNX1,upstream_gene_variant,,ENST00000479325,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;RUNX1,non_coding_transcript_exon_variant,,ENST00000469087,;							MODERATE	646/1362	P216T	RUNX1_HUMAN			Transcript		benign(0.003)	.	ENSP00000340690		CCDS42922.1			1	
DOLK	0	LGGM	GRCh37	9	131708026	131708026	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	4	.	.	ENST00000372586.3:c.1557C>G	p.Tyr519Ter	p.Y519*	ENST00000372586	NM_014908.3	519	taC/taG	0	1	1	UPI0000001C36	0	NA	ENST00000372586		ENSG00000175283	23406		56	0		HGNC	p.Y519X		DOLK		SNV			1				ENST00000372586	protein_coding	getma.org/?cm=var&var=hg19,9,131708026,G,C&fts=all		hmmpanther:PTHR13205,hmmpanther:PTHR13205:SF14		Y/*		C	NA	1873/2090		NA					YES	DOLK,stop_gained,p.Tyr519Ter,ENST00000372586,NM_014908.3;RP11-101E3.5,intron_variant,,ENST00000482796,;NUP188,upstream_gene_variant,,ENST00000372577,NM_015354.2;PHYHD1,downstream_gene_variant,,ENST00000372592,NM_001100876.1;PHYHD1,downstream_gene_variant,,ENST00000308941,NM_174933.3;PHYHD1,downstream_gene_variant,,ENST00000353176,;PHYHD1,downstream_gene_variant,,ENST00000421063,NM_001100877.1;PHYHD1,downstream_gene_variant,,ENST00000442837,;PHYHD1,downstream_gene_variant,,ENST00000419872,;NUP188,upstream_gene_variant,,ENST00000550219,;PHYHD1,downstream_gene_variant,,ENST00000487504,;NUP188,upstream_gene_variant,,ENST00000491990,;PHYHD1,downstream_gene_variant,,ENST00000412476,;NUP188,upstream_gene_variant,,ENST00000464729,;							HIGH	1557/1617	Y519*	DOLK_HUMAN			Transcript			.	ENSP00000361667		CCDS6915.1			1	
AGAP3	0	LGGM	GRCh37	7	150814191	150814191	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000397238.2:c.400G>T	p.Gly134Trp	p.G134W	ENST00000397238	NM_031946.5	134	Ggg/Tgg	0	1	1	UPI0000DAC777	0	getma.org/pdb.php?prot=AGAP3_HUMAN&from=93&to=201&var=G98W	ENST00000397238		ENSG00000133612	16923		26	4.155		HGNC	p.G134W		AGAP3		SNV							ENST00000479901	protein_coding	getma.org/?cm=var&var=hg19,7,150814191,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF08477,PROSITE_profiles:PS51421,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF198,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540		G/W		T	high	400/3225		getma.org/?cm=msa&ty=f&p=AGAP3_HUMAN&rb=93&re=201&var=G98W	deleterious(0)	Q96T14_HUMAN,D3DX07_HUMAN			YES	AGAP3,missense_variant,p.Gly134Trp,ENST00000397238,NM_031946.5;AGAP3,missense_variant,p.Gly314Trp,ENST00000335367,;AGAP3,missense_variant,p.Gly134Trp,ENST00000473312,NM_001042535.2;AGAP3,missense_variant,p.Gly134Trp,ENST00000479901,;AGAP3,missense_variant,p.Gly70Trp,ENST00000469901,;AGAP3,5_prime_UTR_variant,,ENST00000463381,NM_001281300.1;AGAP3,upstream_gene_variant,,ENST00000468796,;AGAP3,non_coding_transcript_exon_variant,,ENST00000476375,;AGAP3,non_coding_transcript_exon_variant,,ENST00000490097,;AGAP3,non_coding_transcript_exon_variant,,ENST00000492234,;AGAP3,upstream_gene_variant,,ENST00000486946,;AGAP3,upstream_gene_variant,,ENST00000475145,;AGAP3,upstream_gene_variant,,ENST00000480106,;AGAP3,non_coding_transcript_exon_variant,,ENST00000473140,;AGAP3,upstream_gene_variant,,ENST00000467724,;AGAP3,upstream_gene_variant,,ENST00000490839,;AGAP3,upstream_gene_variant,,ENST00000463179,;AGAP3,upstream_gene_variant,,ENST00000498559,;							MODERATE	400/2736	G98W	AGAP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380413		CCDS43681.1			1	
FAM178A	0	LGGM	GRCh37	10	102676711	102676711	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000370269.3:c.569G>T	p.Arg190Leu	p.R190L	ENST00000370269	NM_001136123.1	190	cGa/cTa	0	1		UPI00001AE6AA	0	NA	ENST00000238961		ENSG00000119906	17814		45	0.695		HGNC	p.R190L		FAM178A		SNV							ENST00000370269	protein_coding	getma.org/?cm=var&var=hg19,10,102676711,G,T&fts=all		hmmpanther:PTHR16046,hmmpanther:PTHR16046:SF10		R/L		T	neutral	1111/7288		getma.org/?cm=msa&ty=f&p=F178A_HUMAN&rb=1&re=679&var=R190L	tolerated(0.25)					FAM178A,missense_variant,p.Arg190Leu,ENST00000238961,NM_018121.3;FAM178A,missense_variant,p.Arg190Leu,ENST00000370269,NM_001136123.1;FAM178A,missense_variant,p.Arg190Leu,ENST00000370271,;FAM178A,downstream_gene_variant,,ENST00000609386,NM_001243770.1;RP11-179B2.2,upstream_gene_variant,,ENST00000608554,;							MODERATE	569/3522	R190L	F178A_HUMAN			Transcript		benign(0.256)	.	ENSP00000238961		CCDS7500.1			1	
CLIC6	0	LGGM	GRCh37	21	36081776	36081776	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000349499.2:c.1839G>T	p.Leu613=	p.L613=	ENST00000349499	NM_053277.1	613	ctG/ctT	0	1		UPI0000074422	0		ENST00000360731		ENSG00000159212	2065		31			HGNC	p.L613L		CLIC6		SNV							ENST00000349499	protein_coding			PROSITE_profiles:PS50405,hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF142,Pfam_domain:PF13410,TIGRFAM_domain:TIGR00862,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616,Prints_domain:PR01263		L		T		1893/3860								CLIC6,synonymous_variant,p.=,ENST00000360731,;CLIC6,synonymous_variant,p.=,ENST00000349499,NM_053277.1;							LOW	1893/2115		CLIC6_HUMAN			Transcript			.	ENSP00000353959					1	
GOT2	0	LGGM	GRCh37	16	58752489	58752489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000245206.5:c.539G>T	p.Arg180Leu	p.R180L	ENST00000245206	NM_002080.2	180	cGg/cTg	0	1	1	UPI000013CB99	0	getma.org/pdb.php?prot=AATM_HUMAN&from=57&to=425&var=R180L	ENST00000245206		ENSG00000125166	4433		47	3.625		HGNC	p.R180L		GOT2		SNV							ENST00000245206	protein_coding	getma.org/?cm=var&var=hg19,16,58752489,C,A&fts=all		Gene3D:3.40.640.10,Pfam_domain:PF00155,hmmpanther:PTHR11879,Superfamily_domains:SSF53383		R/L		A	high	668/2462		getma.org/?cm=msa&ty=f&p=AATM_HUMAN&rb=57&re=425&var=R180L	deleterious(0)				YES	GOT2,missense_variant,p.Arg180Leu,ENST00000245206,NM_002080.2;GOT2,missense_variant,p.Arg137Leu,ENST00000434819,NM_001286220.1;GOT2,non_coding_transcript_exon_variant,,ENST00000564400,;GOT2,3_prime_UTR_variant,,ENST00000568368,;GOT2,non_coding_transcript_exon_variant,,ENST00000496461,;GOT2,downstream_gene_variant,,ENST00000492378,;GOT2,upstream_gene_variant,,ENST00000494627,;							MODERATE	539/1293	R180L	AATM_HUMAN			Transcript		possibly_damaging(0.698)	.	ENSP00000245206		CCDS10801.1			1	
IL4R	0	LGGM	GRCh37	16	27357863	27357863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000395762.2:c.437C>A	p.Pro146Gln	p.P146Q	ENST00000395762	NM_000418.3	146	cCg/cAg	0	1	1	UPI0000044371	0	getma.org/pdb.php?prot=IL4RA_HUMAN&from=123&to=219&var=P146Q	ENST00000395762		ENSG00000077238	6015		32	2.015		HGNC	p.P146Q		IL4R		SNV							ENST00000449195	protein_coding	getma.org/?cm=var&var=hg19,16,27357863,C,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF24,Superfamily_domains:SSF49265		P/Q		A	medium	696/3685		getma.org/?cm=msa&ty=f&p=IL4RA_HUMAN&rb=123&re=219&var=P146Q	deleterious(0.04)	J9JII2_HUMAN,H3BTD9_HUMAN,A1Z2K8_HUMAN			YES	IL4R,missense_variant,p.Pro146Gln,ENST00000395762,NM_000418.3;IL4R,missense_variant,p.Pro146Gln,ENST00000543915,NM_001257997.1,NM_001257406.1;IL4R,missense_variant,p.Pro146Gln,ENST00000170630,;IL4R,missense_variant,p.Pro131Gln,ENST00000380922,NM_001257407.1;IL4R,missense_variant,p.Pro146Gln,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,;							MODERATE	437/2478	P146Q	IL4RA_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000379111		CCDS10629.1			1	
CYP2A6	0	LGGM	GRCh37	19	41352821	41352821	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000301141.5:c.790C>A	p.Pro264Thr	p.P264T	ENST00000301141	NM_000762.5	264	Cca/Aca	0	1	1	UPI000013E6D2	0	getma.org/pdb.php?prot=CP2A6_HUMAN&from=34&to=491&var=P264T	ENST00000301141		ENSG00000255974	2610		30	1.9		HGNC	p.P264T	rs761666827	CYP2A6		SNV			1	9.62E-05			ENST00000301141	protein_coding	getma.org/?cm=var&var=hg19,19,41352821,G,T&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		P/T		T	low	811/1764		getma.org/?cm=msa&ty=f&p=CP2A6_HUMAN&rb=34&re=491&var=P264T					YES	CYP2A6,missense_variant,p.Pro264Thr,ENST00000301141,NM_000762.5;CYP2A6,3_prime_UTR_variant,,ENST00000600495,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000596719,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,upstream_gene_variant,,ENST00000599960,;							MODERATE	790/1485	P264T	CP2A6_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000301141	8.24E-06	CCDS12568.1			1	
GALR2	0	LGGM	GRCh37	17	74071236	74071236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000329003.3:c.272G>T	p.Trp91Leu	p.W91L	ENST00000329003	NM_003857.2	91	tGg/tTg	0	1	1	UPI000004B247	0	getma.org/pdb.php?prot=GALR2_HUMAN&from=42&to=292&var=W91L	ENST00000329003		ENSG00000182687	4133		23	3.44		HGNC	p.W91L		GALR2		SNV							ENST00000329003	protein_coding	getma.org/?cm=var&var=hg19,17,74071236,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF13,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00663		W/L		T	medium	362/1364		getma.org/?cm=msa&ty=f&p=GALR2_HUMAN&rb=42&re=292&var=W91L	deleterious(0)				YES	GALR2,missense_variant,p.Trp91Leu,ENST00000329003,NM_003857.2;SRP68,upstream_gene_variant,,ENST00000307877,NM_014230.3;SRP68,upstream_gene_variant,,ENST00000539137,NM_001260502.1;SRP68,upstream_gene_variant,,ENST00000355113,;ZACN,upstream_gene_variant,,ENST00000334586,NM_180990.3;ZACN,upstream_gene_variant,,ENST00000392503,;ZACN,intron_variant,,ENST00000591500,;ZACN,upstream_gene_variant,,ENST00000425015,;SRP68,upstream_gene_variant,,ENST00000592704,;ZACN,upstream_gene_variant,,ENST00000421794,;ZACN,upstream_gene_variant,,ENST00000524242,;SRP68,upstream_gene_variant,,ENST00000591272,;							MODERATE	272/1164	W91L	GALR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329684		CCDS11739.1			1	
DNAH17	0	LGGM	GRCh37	17	76425363	76425363	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000389840.5:c.12226C>A	p.Arg4076Ser	p.R4076S	ENST00000389840		4076	Cgc/Agc	0	1	1	UPI0001A5EE11	0	getma.org/pdb.php?prot=DYH17_HUMAN&from=3744&to=4484&var=R4076S	ENST00000389840		ENSG00000187775	2946		15	2.92		HGNC	p.R4076S		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76425363,G,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF03028		R/S		T	medium	12351/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=3744&re=4484&var=R4076S					YES	DNAH17,missense_variant,p.Arg4076Ser,ENST00000389840,;DNAH17,missense_variant,p.Arg4077Ser,ENST00000585328,NM_173628.3;PGS1,downstream_gene_variant,,ENST00000262764,NM_024419.3;AC061992.1,downstream_gene_variant,,ENST00000600087,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;PGS1,downstream_gene_variant,,ENST00000588281,;PGS1,downstream_gene_variant,,ENST00000586880,;DNAH17,upstream_gene_variant,,ENST00000586850,;DNAH17,upstream_gene_variant,,ENST00000592192,;DNAH17,missense_variant,p.Arg1283Ser,ENST00000591369,;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,;PGS1,downstream_gene_variant,,ENST00000589426,;PGS1,downstream_gene_variant,,ENST00000589425,;DNAH17,upstream_gene_variant,,ENST00000591647,;							MODERATE	12226/13458	R4076S	DYH17_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000374490					1	
RYR1	0	LGGM	GRCh37	19	38951126	38951126	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000359596.3:c.2472C>A	p.Pro824=	p.P824=	ENST00000359596		824	ccC/ccA	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		19			HGNC	p.P824P		RYR1		SNV			1				ENST00000355481	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		P		A		2472/15117				O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,synonymous_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,synonymous_variant,p.=,ENST00000360985,;RYR1,synonymous_variant,p.=,ENST00000359596,;							LOW	2472/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
MDGA2	0	LGGM	GRCh37	14	47770669	47770669	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000439988.3:c.365G>T	p.Arg122Leu	p.R122L	ENST00000439988		122	cGg/cTg	0	1		UPI00001C14FF	0	getma.org/pdb.php?prot=MDGA2_HUMAN&from=44&to=128&var=R53L	ENST00000399232		ENSG00000139915	19835		37	0.375		HGNC	p.R53L		MDGA2		SNV							ENST00000439988	protein_coding	getma.org/?cm=var&var=hg19,14,47770669,C,A&fts=all		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		R/L		A	neutral	523/5075		getma.org/?cm=msa&ty=f&p=MDGA2_HUMAN&rb=44&re=128&var=R53L	deleterious(0)	F8WE89_HUMAN				MDGA2,missense_variant,p.Arg53Leu,ENST00000399232,NM_001113498.2;MDGA2,missense_variant,p.Arg122Leu,ENST00000439988,;MDGA2,missense_variant,p.Arg77Leu,ENST00000486952,;MDGA2,5_prime_UTR_variant,,ENST00000426342,NM_182830.4;MDGA2,5_prime_UTR_variant,,ENST00000357362,;MDGA2,non_coding_transcript_exon_variant,,ENST00000472499,;MDGA2,5_prime_UTR_variant,,ENST00000557238,;MDGA2,5_prime_UTR_variant,,ENST00000482848,;							MODERATE	158/2871	R53L	MDGA2_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000382178		CCDS45098.3			1	
EDEM2	0	LGGM	GRCh37	20	33722693	33722693	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000374492.3:c.550C>A	p.Pro184Thr	p.P184T	ENST00000374492	NM_018217.2	184	Cca/Aca	0	1	1	UPI00001285D9	0	getma.org/pdb.php?prot=EDEM2_HUMAN&from=42&to=482&var=P184T	ENST00000374492		ENSG00000088298	15877		30	1.97		HGNC	p.P147T	rs775586607	EDEM2	0.000363	SNV							ENST00000374491	protein_coding	getma.org/?cm=var&var=hg19,20,33722693,G,T&fts=all		Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26,Superfamily_domains:SSF48225		P/T		T	medium	656/1912		getma.org/?cm=msa&ty=f&p=EDEM2_HUMAN&rb=42&re=482&var=P184T	deleterious(0.04)	B4E1F4_HUMAN			YES	EDEM2,missense_variant,p.Pro143Thr,ENST00000540582,;EDEM2,missense_variant,p.Pro184Thr,ENST00000374492,NM_018217.2;EDEM2,missense_variant,p.Pro147Thr,ENST00000374491,NM_001145025.1;EDEM2,5_prime_UTR_variant,,ENST00000541621,;EDEM2,intron_variant,,ENST00000542871,;							MODERATE	550/1737	P184T	EDEM2_HUMAN			Transcript		possibly_damaging(0.544)	.	ENSP00000363616	4.94E-05	CCDS13247.1			1	
ZXDB	0	LGGM	GRCh37	X	57620185	57620185	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000374888.1:c.1704G>T	p.Met568Ile	p.M568I	ENST00000374888	NM_007157.3	568	atG/atT	0	1	1	UPI000013C495	0	NA	ENST00000374888		ENSG00000198455	13199		41	1.935		HGNC	p.M568I		ZXDB		SNV							ENST00000374888	protein_coding	getma.org/?cm=var&var=hg19,X,57620185,G,T&fts=all		Pfam_domain:PF13894,PROSITE_patterns:PS00028,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72,SMART_domains:SM00355		M/I		T	medium	1917/5638		getma.org/?cm=msa&ty=f&p=ZXDB_HUMAN&rb=527&re=592&var=M568I	tolerated(0.25)				YES	ZXDB,missense_variant,p.Met568Ile,ENST00000374888,NM_007157.3;							MODERATE	1704/2412	M568I	ZXDB_HUMAN			Transcript		benign(0.038)	.	ENSP00000364023		CCDS35313.1			1	
TIFAB	0	LGGM	GRCh37	5	134785149	134785149	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000537858.1:c.481G>T	p.Gly161Trp	p.G161W	ENST00000537858	NM_001099221.1	161	Ggg/Tgg	0	1	1	UPI0000603404	0	NA	ENST00000537858		ENSG00000255833	34024		28	0.345		HGNC	p.G161W		TIFAB		SNV							ENST00000537858	protein_coding	getma.org/?cm=var&var=hg19,5,134785149,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31266,hmmpanther:PTHR31266:SF3		G/W		A	neutral	682/5923		getma.org/?cm=msa&ty=f&p=TIFAB_HUMAN&rb=109&re=161&var=G161W	deleterious_low_confidence(0)				YES	TIFAB,missense_variant,p.Gly161Trp,ENST00000537858,NM_001099221.1;C5orf20,upstream_gene_variant,,ENST00000503143,NM_130848.2;CTB-138E5.1,upstream_gene_variant,,ENST00000510230,;							MODERATE	481/486	G161W	TIFAB_HUMAN			Transcript		unknown(0)	.	ENSP00000440509		CCDS43365.1			1	
GLB1L2	0	LGGM	GRCh37	11	134238635	134238635	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000535456.2:c.987C>A	p.Ala329=	p.A329=	ENST00000535456	NM_138342.3	329	gcC/gcA	0	1		UPI0000074534	0		ENST00000339772		ENSG00000149328	25129		31			HGNC	p.A329A		GLB1L2		SNV							ENST00000339772	protein_coding			Gene3D:3.20.20.80,Pfam_domain:PF01301,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF53,Superfamily_domains:SSF51445		A		A		1175/3152				Q8NCG3_HUMAN				GLB1L2,synonymous_variant,p.=,ENST00000535456,NM_138342.3;GLB1L2,synonymous_variant,p.=,ENST00000389881,;GLB1L2,synonymous_variant,p.=,ENST00000339772,;GLB1L2,synonymous_variant,p.=,ENST00000525089,;GLB1L2,synonymous_variant,p.=,ENST00000533324,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000533355,;GLB1L2,downstream_gene_variant,,ENST00000531081,;							LOW	987/1911		GLBL2_HUMAN			Transcript			.	ENSP00000344659		CCDS31724.1			1	
DCAF17	0	LGGM	GRCh37	2	172334531	172334531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000375255.3:c.1217G>T	p.Arg406Leu	p.R406L	ENST00000375255	NM_025000.3	406	cGg/cTg	0	1	1	UPI00004C429A	0	NA	ENST00000375255		ENSG00000115827	25784		35	1.995		HGNC	p.R339L		DCAF17		SNV			1				ENST00000539783	protein_coding	getma.org/?cm=var&var=hg19,2,172334531,G,T&fts=all		hmmpanther:PTHR14815,hmmpanther:PTHR14815:SF1		R/L		T	medium	1544/5828		getma.org/?cm=msa&ty=f&p=DCA17_HUMAN&rb=1&re=517&var=R406L	deleterious(0.02)				YES	DCAF17,missense_variant,p.Arg406Leu,ENST00000375255,NM_025000.3;DCAF17,missense_variant,p.Arg339Leu,ENST00000539783,NM_001164821.1;DCAF17,missense_variant,p.Arg157Leu,ENST00000339506,;DCAF17,missense_variant,p.Arg108Leu,ENST00000431110,;DCAF17,non_coding_transcript_exon_variant,,ENST00000468592,;DCAF17,upstream_gene_variant,,ENST00000498486,;DCAF17,downstream_gene_variant,,ENST00000493106,;							MODERATE	1217/1563	R406L	DCA17_HUMAN			Transcript		benign(0.146)	.	ENSP00000364404		CCDS2243.2			1	
MTHFD1	0	LGGM	GRCh37	14	64908883	64908883	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000216605.8:c.1996G>T	p.Val666Leu	p.V666L	ENST00000216605	NM_005956.3	666	Gtg/Ttg	0	1	1	UPI000013C6FA	0	getma.org/pdb.php?prot=C1TC_HUMAN&from=316&to=935&var=V666L	ENST00000216605		ENSG00000100714	7432		37	2.85		HGNC	p.V722L		MTHFD1		SNV			1				ENST00000545908	protein_coding	getma.org/?cm=var&var=hg19,14,64908883,G,T&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF01268,hmmpanther:PTHR10025:SF30,hmmpanther:PTHR10025,HAMAP:MF_01543		V/L		T	medium	2074/3135		getma.org/?cm=msa&ty=f&p=C1TC_HUMAN&rb=316&re=935&var=V666L	tolerated(0.1)				YES	MTHFD1,missense_variant,p.Val722Leu,ENST00000545908,;MTHFD1,missense_variant,p.Val666Leu,ENST00000216605,NM_005956.3;CTD-2555O16.4,non_coding_transcript_exon_variant,,ENST00000609125,;CTD-2555O16.2,intron_variant,,ENST00000556640,;MTHFD1,splice_region_variant,,ENST00000553405,;MTHFD1,splice_region_variant,,ENST00000556771,;MTHFD1,downstream_gene_variant,,ENST00000555252,;MTHFD1,downstream_gene_variant,,ENST00000554677,;MTHFD1,downstream_gene_variant,,ENST00000555858,;							MODERATE	1996/2808	V666L	C1TC_HUMAN			Transcript		benign(0.108)	.	ENSP00000216605		CCDS9763.1			1	
DHX37	0	LGGM	GRCh37	12	125453095	125453095	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000308736.2:c.1393C>A	p.Arg465=	p.R465=	ENST00000308736	NM_032656.3	465	Cgg/Agg	0	1	1	UPI00000742DC	0		ENST00000308736		ENSG00000150990	17210		49			HGNC	p.R252R		DHX37		SNV							ENST00000544745	protein_coding			PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Superfamily_domains:SSF52540		R		T		1492/4548				Q6IPP7_HUMAN			YES	DHX37,synonymous_variant,p.=,ENST00000308736,NM_032656.3;DHX37,synonymous_variant,p.=,ENST00000544745,;DHX37,upstream_gene_variant,,ENST00000543962,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;							LOW	1393/3474		DHX37_HUMAN			Transcript			.	ENSP00000311135		CCDS9261.1			1	
KANK4	0	LGGM	GRCh37	1	62739044	62739044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	4	.	.	ENST00000371153.4:c.1732C>A	p.Leu578Met	p.L578M	ENST00000371153	NM_181712.4	578	Ctg/Atg	0	1	1	UPI000022AE73	0	NA	ENST00000371153		ENSG00000132854	27263		21	2.095		HGNC	p.L578M		KANK4		SNV							ENST00000371153	protein_coding	getma.org/?cm=var&var=hg19,1,62739044,G,T&fts=all		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20		L/M		T	medium	2111/4665		getma.org/?cm=msa&ty=f&p=KANK4_HUMAN&rb=80&re=637&var=L578M	deleterious(0)	B1ALP6_HUMAN,B1ALP5_HUMAN			YES	KANK4,missense_variant,p.Leu578Met,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;							MODERATE	1732/2988	L578M	KANK4_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000360195		CCDS620.1			1	
ERC1	0	LGGM	GRCh37	12	1599351	1599351	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000397203.2:c.3306C>A	p.Pro1102=	p.P1102=	ENST00000397203		1102	ccC/ccA	0	1		UPI000007479C	0		ENST00000360905		ENSG00000082805	17072		32			HGNC	p.P1102P		ERC1		SNV			1				ENST00000589028	protein_coding			Pfam_domain:PF09457,PROSITE_profiles:PS51511,Superfamily_domains:SSF144270		P		A		3487/5789				K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,synonymous_variant,p.=,ENST00000397203,;ERC1,synonymous_variant,p.=,ENST00000543086,NM_178039.2;ERC1,synonymous_variant,p.=,ENST00000589028,NM_178040.2;ERC1,synonymous_variant,p.=,ENST00000360905,;ERC1,synonymous_variant,p.=,ENST00000546231,;ERC1,3_prime_UTR_variant,,ENST00000355446,;ERC1,3_prime_UTR_variant,,ENST00000440394,;ERC1,3_prime_UTR_variant,,ENST00000347735,;ERC1,3_prime_UTR_variant,,ENST00000542302,;ERC1,3_prime_UTR_variant,,ENST00000545948,;ERC1,3_prime_UTR_variant,,ENST00000588412,;ERC1,non_coding_transcript_exon_variant,,ENST00000543151,;							LOW	3306/3351		RB6I2_HUMAN			Transcript			.	ENSP00000354158		CCDS8508.1			1	
RASAL2	0	LGGM	GRCh37	1	178427390	178427390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000367649.3:c.2963G>T	p.Arg988Leu	p.R988L	ENST00000367649		988	cGg/cTg	0	1		UPI000012FFF1	0	NA	ENST00000462775		ENSG00000075391	9874		40	2.165		HGNC	p.R977L		RASAL2		SNV							ENST00000448150	protein_coding	getma.org/?cm=var&var=hg19,1,178427390,G,T&fts=all		Pfam_domain:PF12004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF52		R/L		T	medium	2665/9156		getma.org/?cm=msa&ty=f&p=NGAP_HUMAN&rb=609&re=1110&var=R847L	deleterious(0.04)					RASAL2,missense_variant,p.Arg977Leu,ENST00000448150,NM_170692.2;RASAL2,missense_variant,p.Arg847Leu,ENST00000462775,NM_004841.3;RASAL2,missense_variant,p.Arg988Leu,ENST00000367649,;RASAL2,missense_variant,p.Arg398Leu,ENST00000433130,;RASAL2,downstream_gene_variant,,ENST00000463079,;							MODERATE	2540/3420	R847L	NGAP_HUMAN			Transcript		benign(0.392)	.	ENSP00000420558		CCDS1322.1			1	
BTNL3	0	LGGM	GRCh37	5	180419901	180419901	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000342868.6:c.138C>A	p.Thr46=	p.T46=	ENST00000342868	NM_197975.2	46	acC/acA	0	1	1	UPI00001D69EF	0		ENST00000342868		ENSG00000168903	1143		33			HGNC	p.T46T		BTNL3		SNV							ENST00000342868	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		T		A		322/2440							YES	BTNL3,synonymous_variant,p.=,ENST00000342868,NM_197975.2;							LOW	138/1401		BTNL3_HUMAN			Transcript			.	ENSP00000341787		CCDS47358.1			1	
HOOK2	0	LGGM	GRCh37	19	12881788	12881788	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000397668.3:c.860C>A	p.Ala287Asp	p.A287D	ENST00000397668	NM_013312.2	287	gCc/gAc	0	1	1	UPI00003D0BC0	0	NA	ENST00000397668		ENSG00000095066	19885		11	2.66		HGNC	p.A214D		HOOK2		SNV							ENST00000589400	protein_coding	getma.org/?cm=var&var=hg19,19,12881788,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947		A/D		T	medium	934/2513		getma.org/?cm=msa&ty=f&p=HOOK2_HUMAN&rb=1&re=717&var=A287D	deleterious(0)	K7ENU5_HUMAN,K7EMR5_HUMAN,K7EJ48_HUMAN			YES	HOOK2,missense_variant,p.Ala287Asp,ENST00000264827,NM_001100176.1;HOOK2,missense_variant,p.Ala287Asp,ENST00000397668,NM_013312.2;HOOK2,missense_variant,p.Ala214Asp,ENST00000589400,;HOOK2,missense_variant,p.Ala214Asp,ENST00000592079,;HOOK2,downstream_gene_variant,,ENST00000590839,;HOOK2,downstream_gene_variant,,ENST00000587178,;HOOK2,downstream_gene_variant,,ENST00000588052,;HOOK2,downstream_gene_variant,,ENST00000587964,;HOOK2,intron_variant,,ENST00000589965,;HOOK2,downstream_gene_variant,,ENST00000589765,;HOOK2,intron_variant,,ENST00000586188,;HOOK2,upstream_gene_variant,,ENST00000592259,;HOOK2,downstream_gene_variant,,ENST00000592808,;HOOK2,downstream_gene_variant,,ENST00000591251,;HOOK2,downstream_gene_variant,,ENST00000589134,;HOOK2,upstream_gene_variant,,ENST00000591839,;HOOK2,downstream_gene_variant,,ENST00000586284,;HOOK2,downstream_gene_variant,,ENST00000586719,;HOOK2,downstream_gene_variant,,ENST00000591641,;HOOK2,upstream_gene_variant,,ENST00000589398,;HOOK2,downstream_gene_variant,,ENST00000593143,;HOOK2,downstream_gene_variant,,ENST00000592512,;							MODERATE	860/2160	A287D	HOOK2_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000380785		CCDS42508.1			1	
TRIP10	0	LGGM	GRCh37	19	6751192	6751192	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000313285.8:c.1608C>A	p.Pro536=	p.P536=	ENST00000313285	NM_004240.2	536	ccC/ccA	0	1		UPI000006DB86	0		ENST00000313244		ENSG00000125733	12304		15			HGNC	p.P546Q		TRIP10		SNV							ENST00000596758	protein_coding			Gene3D:2.30.30.40,Pfam_domain:PF00018,PROSITE_profiles:PS50002,hmmpanther:PTHR12602,hmmpanther:PTHR12602:SF7,SMART_domains:SM00326,Superfamily_domains:SSF50044		P		A		1811/2153				M0R070_HUMAN				TRIP10,missense_variant,p.Pro546Gln,ENST00000596758,;TRIP10,synonymous_variant,p.=,ENST00000600428,;TRIP10,synonymous_variant,p.=,ENST00000313244,;TRIP10,synonymous_variant,p.=,ENST00000313285,NM_004240.2;SH2D3A,downstream_gene_variant,,ENST00000245908,NM_005490.2;SH2D3A,downstream_gene_variant,,ENST00000437152,;SH2D3A,downstream_gene_variant,,ENST00000597687,;CTD-3128G10.6,intron_variant,,ENST00000594056,;SH2D3A,downstream_gene_variant,,ENST00000599563,;SH2D3A,downstream_gene_variant,,ENST00000597254,;SH2D3A,downstream_gene_variant,,ENST00000597168,;TRIP10,3_prime_UTR_variant,,ENST00000600677,;TRIP10,non_coding_transcript_exon_variant,,ENST00000595305,;SH2D3A,downstream_gene_variant,,ENST00000595681,;TRIP10,downstream_gene_variant,,ENST00000598843,;							LOW	1776/1806		CIP4_HUMAN			Transcript			.	ENSP00000320117					1	
SUPT16H	0	LGGM	GRCh37	14	21822692	21822692	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000216297.2:c.2668G>T	p.Asp890Tyr	p.D890Y	ENST00000216297	NM_007192.3	890	Gac/Tac	0	1	1	UPI0000035D5C	0	NA	ENST00000216297		ENSG00000092201	11465		30	3.28		HGNC	p.D890Y		SUPT16H		SNV							ENST00000216297	protein_coding	getma.org/?cm=var&var=hg19,14,21822692,C,A&fts=all		hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980,Pfam_domain:PF08512		D/Y		A	medium	3007/4684		getma.org/?cm=msa&ty=f&p=SP16H_HUMAN&rb=806&re=896&var=D890Y	deleterious(0)				YES	SUPT16H,missense_variant,p.Asp890Tyr,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,;							MODERATE	2668/3144	D890Y	SP16H_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216297		CCDS9569.1			1	
NTNG2	0	LGGM	GRCh37	9	135073916	135073916	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000393229.3:c.777G>T	p.Pro259=	p.P259=	ENST00000393229	NM_032536.2	259	ccG/ccT	0	1	1	UPI0000367698	0		ENST00000393229		ENSG00000196358	14288		15			HGNC	p.P259P		NTNG2		SNV							ENST00000372179	protein_coding			SMART_domains:SM00136,Pfam_domain:PF00055,hmmpanther:PTHR10574,PROSITE_profiles:PS51117		P		T		1553/4792							YES	NTNG2,synonymous_variant,p.=,ENST00000393229,NM_032536.2;NTNG2,synonymous_variant,p.=,ENST00000360670,;NTNG2,synonymous_variant,p.=,ENST00000393228,;NTNG2,synonymous_variant,p.=,ENST00000372179,;							LOW	777/1593		NTNG2_HUMAN			Transcript			.	ENSP00000376921		CCDS6946.1			1	
ADCY6	0	LGGM	GRCh37	12	49169163	49169163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000307885.4:c.1903C>A	p.Arg635Ser	p.R635S	ENST00000307885	NM_015270.3	635	Cgc/Agc	0	1	1	UPI000003EC29	0	NA	ENST00000307885		ENSG00000174233	237		27	2.415		HGNC	p.R635S		ADCY6		SNV			1				ENST00000307885	protein_coding	getma.org/?cm=var&var=hg19,12,49169163,G,T&fts=all		Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263		R/S		T	medium	2598/6464		getma.org/?cm=msa&ty=f&p=ADCY6_HUMAN&rb=578&re=669&var=R635S	deleterious(0.01)	Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,missense_variant,p.Arg635Ser,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Arg635Ser,ENST00000357869,;ADCY6,missense_variant,p.Arg635Ser,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,;							MODERATE	1903/3507	R635S	ADCY6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000311405		CCDS8767.1			1	
ARHGAP39	0	LGGM	GRCh37	8	145781005	145781005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000377307.2:c.535C>A	p.Leu179Ile	p.L179I	ENST00000377307	NM_025251.1	179	Ctt/Att	0	1		UPI000012DDC2	0	NA	ENST00000276826		ENSG00000147799	29351		32	0.41		HGNC	p.L179I		ARHGAP39		SNV							ENST00000540274	protein_coding	getma.org/?cm=var&var=hg19,8,145781005,G,T&fts=all		hmmpanther:PTHR23177:SF9,hmmpanther:PTHR23177		L/I		T	neutral	737/4697		getma.org/?cm=msa&ty=f&p=RHG39_HUMAN&rb=116&re=689&var=L179I	tolerated(0.13)					ARHGAP39,missense_variant,p.Leu179Ile,ENST00000276826,;ARHGAP39,missense_variant,p.Leu179Ile,ENST00000377307,NM_025251.1;ARHGAP39,missense_variant,p.Leu179Ile,ENST00000540274,;AC084125.2,downstream_gene_variant,,ENST00000538467,;							MODERATE	535/3252	L179I	RHG39_HUMAN			Transcript		benign(0.046)	.	ENSP00000276826					1	
C1orf101	0	LGGM	GRCh37	1	244798842	244798842	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000366534.4:c.2700C>A	p.Pro900=	p.P900=	ENST00000366534	NM_001130957.1	900	ccC/ccA	0	1	1	UPI00004701CD	0		ENST00000366534		ENSG00000179397	28491		35			HGNC	p.P820P		C1orf101		SNV							ENST00000428042	protein_coding			Pfam_domain:PF15020		P		A		2754/3333							YES	C1orf101,splice_region_variant,p.=,ENST00000366534,NM_001130957.1;C1orf101,splice_region_variant,,ENST00000366533,NM_173807.4;C1orf101,splice_region_variant,p.=,ENST00000366531,NM_001242340.1;C1orf101,splice_region_variant,p.=,ENST00000428042,;C1orf101,splice_region_variant,,ENST00000485888,;C1orf101,upstream_gene_variant,,ENST00000487449,;							LOW	2700/2856		CA101_HUMAN			Transcript			.	ENSP00000355492		CCDS44340.1			1	
PDE10A	0	LGGM	GRCh37	6	165846513	165846513	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000539869.2:c.642C>A	p.Leu214=	p.L214=	ENST00000539869	NM_001130690.2	214	ctC/ctA	0	1		UPI0000039E34	0		ENST00000366882		ENSG00000112541	8772		41			HGNC	p.L204L	rs370389879	PDE10A		SNV	A:0						ENST00000366882	protein_coding			Superfamily_domains:SSF55781,SMART_domains:SM00065,Gene3D:3.30.450.40,Pfam_domain:PF01590,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79		L	A:0.0002	T		767/8233				Q9HCQ1_HUMAN				PDE10A,synonymous_variant,p.=,ENST00000366882,;PDE10A,synonymous_variant,p.=,ENST00000354448,;PDE10A,synonymous_variant,p.=,ENST00000539869,NM_001130690.2;	0.000116						LOW	612/2340		PDE10_HUMAN			Transcript			.	ENSP00000355847	8.24E-06				1	
AL158091.1	0	LGGM	GRCh37	20	62475027	62475027	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000596861.1:c.247G>C	p.Gly83Arg	p.G83R	ENST00000596861		83	Ggg/Cgg	0	1	1	UPI0000456FD2	0		ENST00000596861		ENSG00000269223			11			Clone_based_ensembl_gene	p.G83R		AL158091.1		SNV							ENST00000596861	protein_coding					G/R		G		247/495				M0R1Y7_HUMAN			YES	AL158091.1,missense_variant,p.Gly83Arg,ENST00000596861,;							MODERATE	247/495					Transcript		unknown(0)	.	ENSP00000472195					1	
TNS1	0	LGGM	GRCh37	2	218762627	218762627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000171887.4:c.62G>T	p.Arg21Met	p.R21M	ENST00000171887	NM_022648.4	21	aGg/aTg	0	1	1	UPI0000456EEB	0	getma.org/pdb.php?prot=TENS1_HUMAN&from=4&to=176&var=R21M	ENST00000171887		ENSG00000079308	11973		16	3.41		HGNC	p.R86M		TNS1		SNV							ENST00000423413	protein_coding	getma.org/?cm=var&var=hg19,2,218762627,C,A&fts=all		PROSITE_profiles:PS51181,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40,Gene3D:3.90.190.10,Superfamily_domains:SSF52799		R/M		A	medium	515/10331		getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=4&re=176&var=R21M	deleterious(0)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN			YES	TNS1,missense_variant,p.Arg21Met,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.Arg21Met,ENST00000419504,;TNS1,missense_variant,p.Arg21Met,ENST00000430930,;TNS1,missense_variant,p.Arg146Met,ENST00000446903,;TNS1,missense_variant,p.Arg52Met,ENST00000310858,;TNS1,missense_variant,p.Arg89Met,ENST00000413554,;TNS1,missense_variant,p.Arg21Met,ENST00000413280,;TNS1,missense_variant,p.Arg21Met,ENST00000449814,;TNS1,missense_variant,p.Arg86Met,ENST00000423413,;TNS1,missense_variant,p.Arg21Met,ENST00000439083,;TNS1,upstream_gene_variant,,ENST00000492338,;							MODERATE	62/5208	R21M	TENS1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000171887		CCDS2407.1			1	
APMAP	0	LGGM	GRCh37	20	24950290	24950290	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000217456.2:c.720G>T	p.Leu240=	p.L240=	ENST00000217456	NM_020531.2	240	ctG/ctT	0	1	1	UPI0000036D2D	0		ENST00000217456		ENSG00000101474	13238		33			HGNC	p.L240L		APMAP		SNV							ENST00000217456	protein_coding			hmmpanther:PTHR10426:SF26,hmmpanther:PTHR10426,Gene3D:2.120.10.30,Pfam_domain:PF03088,Superfamily_domains:SSF63829		L		A		1011/2430							YES	APMAP,synonymous_variant,p.=,ENST00000217456,NM_020531.2;APMAP,synonymous_variant,p.=,ENST00000451442,;APMAP,synonymous_variant,p.=,ENST00000447138,;RNU6-1257P,upstream_gene_variant,,ENST00000384625,;							LOW	720/1251		APMAP_HUMAN			Transcript			.	ENSP00000217456		CCDS13166.1			1	
SEC16A	0	LGGM	GRCh37	9	139358155	139358155	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000313050.7:c.4484G>T	p.Arg1495Leu	p.R1495L	ENST00000313050	NM_014866.1	1495	cGg/cTg	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006		40	1.775		HGNC	p.R1317L		SEC16A		SNV							ENST00000431893	protein_coding	getma.org/?cm=var&var=hg19,9,139358155,C,A&fts=all		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7,Pfam_domain:PF12932		R/L		A	low	4558/8806		getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=1270&re=1372&var=R1317L	deleterious(0)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Arg1495Leu,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Arg1317Leu,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Arg1317Leu,ENST00000290037,;SEC16A,missense_variant,p.Arg1317Leu,ENST00000431893,;SEC16A,missense_variant,p.Arg217Leu,ENST00000453963,;SEC16A,upstream_gene_variant,,ENST00000277537,;SEC16A,non_coding_transcript_exon_variant,,ENST00000472305,;							MODERATE	4484/7074	R1317L				Transcript		probably_damaging(0.998)	.	ENSP00000325827		CCDS55351.1			1	
PCDHGA5	0	LGGM	GRCh37	5	140744720	140744720	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000518069.1:c.823G>T	p.Gly275Trp	p.G275W	ENST00000518069	NM_018918.2	275	Ggg/Tgg	0	1	1	UPI000006CD9F	0	getma.org/pdb.php?prot=PCDG5_HUMAN&from=247&to=338&var=G275W	ENST00000518069		ENSG00000253485	8703		29	4.125		HGNC	p.G275W		PCDHGA5		SNV							ENST00000518069	protein_coding	getma.org/?cm=var&var=hg19,5,140744720,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/W		T	high	823/4602		getma.org/?cm=msa&ty=f&p=PCDG5_HUMAN&rb=247&re=338&var=G275W	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA5,missense_variant,p.Gly275Trp,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;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;							MODERATE	823/2796	G275W	PCDG5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000429834		CCDS54925.1			1	
VENTX	0	LGGM	GRCh37	10	135053484	135053484	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000325980.9:c.451C>A	p.Gln151Lys	p.Q151K	ENST00000325980	NM_014468.3	151	Cag/Aag	0	1	1	UPI0000070A25	0	NA	ENST00000325980		ENSG00000151650	13639		30	0.695		HGNC	p.Q151K	COSM1675684	VENTX		SNV						1	ENST00000325980	protein_coding	getma.org/?cm=var&var=hg19,10,135053484,C,A&fts=all		Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF24		Q/K		A	neutral	962/2911		getma.org/?cm=msa&ty=f&p=VENTX_HUMAN&rb=149&re=258&var=Q151K	deleterious(0)				YES	VENTX,missense_variant,p.Gln151Lys,ENST00000325980,NM_014468.3;					1		MODERATE	451/777	Q151K	VENTX_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000357556		CCDS7675.1			1	
KDM5C	0	LGGM	GRCh37	X	53246978	53246978	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000375401.3:c.522G>T	p.Val174=	p.V174=	ENST00000375401	NM_004187.3	174	gtG/gtT	0	1	1	UPI000013CBE3	0		ENST00000375401		ENSG00000126012	11114		22			HGNC	p.V174V		KDM5C		SNV			1				ENST00000375379	protein_coding			hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,Gene3D:1.10.150.60,Superfamily_domains:SSF46774		V		A		1055/6031							YES	KDM5C,splice_region_variant,p.=,ENST00000452825,NM_001146702.1;KDM5C,splice_region_variant,p.=,ENST00000375401,NM_004187.3;KDM5C,splice_region_variant,p.=,ENST00000404049,NM_001282622.1;KDM5C,splice_region_variant,p.=,ENST00000375379,;KDM5C,splice_region_variant,p.=,ENST00000375383,;KDM5C-IT1,upstream_gene_variant,,ENST00000412242,;KDM5C,downstream_gene_variant,,ENST00000495519,;KDM5C,downstream_gene_variant,,ENST00000467093,;KDM5C,downstream_gene_variant,,ENST00000429877,;KDM5C,downstream_gene_variant,,ENST00000428012,;KDM5C,downstream_gene_variant,,ENST00000349663,;KDM5C,upstream_gene_variant,,ENST00000497995,;							LOW	522/4683		KDM5C_HUMAN			Transcript			.	ENSP00000364550		CCDS14351.1			1	
NR2C2	0	LGGM	GRCh37	3	15073949	15073949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000323373.6:c.1231C>A	p.Arg411Ser	p.R411S	ENST00000323373	NM_003298.3	411	Cgt/Agt	0	1		UPI0000047515	0	getma.org/pdb.php?prot=NR2C2_HUMAN&from=366&to=567&var=R392S	ENST00000393102		ENSG00000177463	7972		49	3.2		HGNC	p.R6S		NR2C2		SNV							ENST00000439011	protein_coding	getma.org/?cm=var&var=hg19,3,15073949,C,A&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00104,Prints_domain:PR00398,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF48,SMART_domains:SM00430,Superfamily_domains:SSF48508		R/S		A	medium	1299/1937		getma.org/?cm=msa&ty=f&p=NR2C2_HUMAN&rb=366&re=567&var=R392S	deleterious(0)	C9JMI6_HUMAN				NR2C2,missense_variant,p.Arg392Ser,ENST00000425241,;NR2C2,missense_variant,p.Arg411Ser,ENST00000323373,NM_003298.3;NR2C2,missense_variant,p.Arg392Ser,ENST00000393102,;NR2C2,missense_variant,p.Arg392Ser,ENST00000406272,;NR2C2,missense_variant,p.Arg6Ser,ENST00000439011,;NR2C2,upstream_gene_variant,,ENST00000413194,;NR2C2,non_coding_transcript_exon_variant,,ENST00000478572,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;NR2C2,upstream_gene_variant,,ENST00000495282,;							MODERATE	1174/1791	R392S	NR2C2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376814					1	
SETD8	0	LGGM	GRCh37	12	123892066	123892066	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000330479.4:c.875G>T	p.Arg292Leu	p.R292L	ENST00000330479	NM_020382.3	292	cGc/cTc	0	1	1	UPI000002B371	0	getma.org/pdb.php?prot=SETD8_HUMAN&from=268&to=378&var=R333L	ENST00000402868		ENSG00000183955	29489		29	3.135		HGNC	p.R292L		SETD8		SNV							ENST00000402868	protein_coding	getma.org/?cm=var&var=hg19,12,123892066,G,T&fts=all		PROSITE_profiles:PS51571,PROSITE_profiles:PS50280,hmmpanther:PTHR22884:SF11,hmmpanther:PTHR22884,Gene3D:2.170.270.10,Pfam_domain:PF00856,PIRSF_domain:PIRSF027717,SMART_domains:SM00317,Superfamily_domains:SSF82199		R/L		T	medium	1301/3140		getma.org/?cm=msa&ty=f&p=SETD8_HUMAN&rb=268&re=378&var=R333L	deleterious(0)				YES	SETD8,missense_variant,p.Arg292Leu,ENST00000402868,;SETD8,missense_variant,p.Arg292Leu,ENST00000330479,NM_020382.3;SETD8,missense_variant,p.Arg283Leu,ENST00000437502,;SETD8,downstream_gene_variant,,ENST00000485469,;SETD8,3_prime_UTR_variant,,ENST00000437519,;SETD8,downstream_gene_variant,,ENST00000461103,;							MODERATE	875/1059	R333L	SETD8_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000384629		CCDS9247.1			1	
ZSCAN5A	0	LGGM	GRCh37	19	56733210	56733210	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	4	.	.	ENST00000587340.1:c.1225G>T	p.Glu409Ter	p.E409*	ENST00000587340		409	Gag/Tag	0	1		UPI0000072024	0	NA	ENST00000391713		ENSG00000131848	23710		53	0		HGNC	p.E409X		ZSCAN5A		SNV							ENST00000587340	protein_coding	getma.org/?cm=var&var=hg19,19,56733210,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		E/*		A	NA	1391/1920		NA		K7ESN6_HUMAN,K7ESE4_HUMAN,K7EQW6_HUMAN,K7EN85_HUMAN,K7EMC4_HUMAN,K7EIX9_HUMAN				ZSCAN5A,stop_gained,p.Glu409Ter,ENST00000587340,;ZSCAN5A,stop_gained,p.Glu409Ter,ENST00000391713,NM_024303.1;ZSCAN5A,stop_gained,p.Glu408Ter,ENST00000592355,;ZSCAN5A,stop_gained,p.Glu292Ter,ENST00000254165,;ZSCAN5A,stop_gained,p.Glu263Ter,ENST00000587492,;ZSCAN5A,downstream_gene_variant,,ENST00000592679,;ZSCAN5A,downstream_gene_variant,,ENST00000593106,;ZSCAN5A,downstream_gene_variant,,ENST00000592509,;ZSCAN5A,downstream_gene_variant,,ENST00000588442,;ZSCAN5A,downstream_gene_variant,,ENST00000588955,;ZSCAN5A,downstream_gene_variant,,ENST00000592101,;CTD-2086L14.1,upstream_gene_variant,,ENST00000474329,;							HIGH	1225/1491	E409*	ZSA5A_HUMAN			Transcript			.	ENSP00000375593		CCDS12941.1			1	
ANXA4	0	LGGM	GRCh37	2	70033588	70033588	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000394295.4:c.264C>A	p.Pro88=	p.P88=	ENST00000394295	NM_001153.3	88	ccC/ccA	0	1	1	UPI000013D51A	0		ENST00000394295		ENSG00000196975	542		23			HGNC	p.P88P		ANXA4		SNV							ENST00000394295	protein_coding			Prints_domain:PR00200,Superfamily_domains:SSF47874,Gene3D:1.10.220.10,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF28		P		A		512/2163				Q6MZI0_HUMAN,Q6LES2_HUMAN,B4DDF9_HUMAN			YES	ANXA4,synonymous_variant,p.=,ENST00000394295,NM_001153.3;ANXA4,synonymous_variant,p.=,ENST00000536030,;ANXA4,intron_variant,,ENST00000409920,;ANXA4,non_coding_transcript_exon_variant,,ENST00000460942,;ANXA4,non_coding_transcript_exon_variant,,ENST00000460439,;ANXA4,intron_variant,,ENST00000487351,;ANXA4,upstream_gene_variant,,ENST00000468815,;ANXA4,upstream_gene_variant,,ENST00000472124,;ANXA4,downstream_gene_variant,,ENST00000484219,;ANXA4,non_coding_transcript_exon_variant,,ENST00000477632,;							LOW	264/966		ANXA4_HUMAN			Transcript			.	ENSP00000377833		CCDS1894.1			1	
TTLL9	0	LGGM	GRCh37	20	30510804	30510804	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	4	.	.	ENST00000375938.4:c.612C>A	p.Pro204=	p.P204=	ENST00000375938		204	ccC/ccA	0	1	1	UPI00001998D0	0		ENST00000375938		ENSG00000131044	16118		66			HGNC	p.P131P		TTLL9		SNV							ENST00000375921	protein_coding			Pfam_domain:PF03133,PROSITE_profiles:PS51221,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF39,Superfamily_domains:SSF56059		P		A		865/2623							YES	TTLL9,synonymous_variant,p.=,ENST00000375938,;TTLL9,synonymous_variant,p.=,ENST00000375921,;TTLL9,synonymous_variant,p.=,ENST00000535842,NM_001008409.2;TTLL9,synonymous_variant,p.=,ENST00000375922,;TTLL9,synonymous_variant,p.=,ENST00000310998,;TTLL9,synonymous_variant,p.=,ENST00000375934,;							LOW	612/1320		TTLL9_HUMAN			Transcript			.	ENSP00000365105		CCDS42863.1			1	
SIRPD	0	LGGM	GRCh37	20	1532451	1532451	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000381623.3:c.307C>A	p.Arg103Ser	p.R103S	ENST00000381623		103	Cgc/Agc	0	1	1	UPI000013CBD7	0	getma.org/pdb.php?prot=SIRPD_HUMAN&from=29&to=139&var=R103S	ENST00000381623		ENSG00000125900	16248		32	1.74		HGNC	p.R103S		SIRPD		SNV							ENST00000381621	protein_coding	getma.org/?cm=var&var=hg19,20,1532451,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF8,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/S		T	low	1497/1958		getma.org/?cm=msa&ty=f&p=SIRPD_HUMAN&rb=29&re=139&var=R103S	tolerated(0.11)				YES	SIRPD,missense_variant,p.Arg103Ser,ENST00000381623,;SIRPD,missense_variant,p.Arg103Ser,ENST00000381621,NM_178460.2;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPD,intron_variant,,ENST00000429387,;RP4-576H24.4,downstream_gene_variant,,ENST00000564763,;RP4-576H24.4,downstream_gene_variant,,ENST00000567028,;RP4-576H24.2,non_coding_transcript_exon_variant,,ENST00000453770,;							MODERATE	307/594	R103S	SIRPD_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000371036		CCDS13018.1			1	
EPSTI1	0	LGGM	GRCh37	13	43462487	43462487	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000313640.7:c.1132G>T	p.Asp378Tyr	p.D378Y	ENST00000313640	NM_001002264.2	378	Gac/Tac	0	1		UPI00016277A6	0		ENST00000398762		ENSG00000133106	16465		43		143	HGNC	p.D378Y		EPSTI1		SNV							ENST00000313640	protein_coding							A		-/957				F5H799_HUMAN				EPSTI1,missense_variant,p.Asp378Tyr,ENST00000313640,NM_001002264.2;EPSTI1,3_prime_UTR_variant,,ENST00000313624,NM_033255.3;EPSTI1,downstream_gene_variant,,ENST00000398762,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;							MODIFIER	-/957		ESIP1_HUMAN			Transcript			.	ENSP00000381746					1	
MPP3	0	LGGM	GRCh37	17	41901328	41901328	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000398389.4:c.655C>A	p.Gln219Lys	p.Q219K	ENST00000398389	NM_001932.4	219	Cag/Aag	0	1	1	UPI0000167B23	0	getma.org/pdb.php?prot=MPP3_HUMAN&from=216&to=229&var=Q219K	ENST00000398389		ENSG00000161647	7221		19	-1.075		HGNC	p.Q219K		MPP3		SNV							ENST00000398389	protein_coding	getma.org/?cm=var&var=hg19,17,41901328,G,T&fts=all		Gene3D:2.30.30.40,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF33,Superfamily_domains:SSF50044		Q/K		T	neutral	821/2182		getma.org/?cm=msa&ty=f&p=MPP3_HUMAN&rb=186&re=259&var=Q219K	tolerated(1)				YES	MPP3,missense_variant,p.Gln244Lys,ENST00000398393,;MPP3,missense_variant,p.Gln219Lys,ENST00000398389,NM_001932.4;MPP3,missense_variant,p.Gln219Lys,ENST00000496503,;MPP3,non_coding_transcript_exon_variant,,ENST00000589375,;MPP3,downstream_gene_variant,,ENST00000480958,;MPP3,upstream_gene_variant,,ENST00000479797,;							MODERATE	655/1758	Q219K	MPP3_HUMAN			Transcript		benign(0.001)	.	ENSP00000381425		CCDS42344.1			1	
PKP2	0	LGGM	GRCh37	12	32945381	32945381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000070846.6:c.2623G>T	p.Ala875Ser	p.A875S	ENST00000070846	NM_004572.3	875	Gcc/Tcc	0	1	1	UPI000013C576	0	NA	ENST00000070846		ENSG00000057294	9024		47	1.745		HGNC	p.A875S		PKP2		SNV			1				ENST00000070846	protein_coding	getma.org/?cm=var&var=hg19,12,32945381,C,A&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF25		A/S		A	low	2648/4241		getma.org/?cm=msa&ty=f&p=PKP2_HUMAN&rb=825&re=881&var=A875S	deleterious(0)				YES	PKP2,missense_variant,p.Ala831Ser,ENST00000340811,NM_001005242.2;PKP2,missense_variant,p.Ala875Ser,ENST00000070846,NM_004572.3;PKP2,non_coding_transcript_exon_variant,,ENST00000546769,;							MODERATE	2623/2646	A875S	PKP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000070846		CCDS8731.1			1	
NEO1	0	LGGM	GRCh37	15	73552736	73552736	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000339362.5:c.2328C>A	p.Gly776=	p.G776=	ENST00000339362		776	ggC/ggA	0	1		UPI000013D221	0		ENST00000261908		ENSG00000067141	7754		42			HGNC	p.G776G		NEO1		SNV							ENST00000558964	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		G		A		2520/7088								NEO1,synonymous_variant,p.=,ENST00000339362,;NEO1,synonymous_variant,p.=,ENST00000261908,NM_002499.3,NM_001172624.1,NM_001172623.1;NEO1,synonymous_variant,p.=,ENST00000560328,;NEO1,synonymous_variant,p.=,ENST00000558964,;NEO1,synonymous_variant,p.=,ENST00000560262,;RP11-272D12.2,upstream_gene_variant,,ENST00000560337,;NEO1,downstream_gene_variant,,ENST00000558807,;							LOW	2328/4386		NEO1_HUMAN			Transcript			.	ENSP00000261908		CCDS10247.1			1	
PLEKHM2	0	LGGM	GRCh37	1	16054801	16054801	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	4	.	.	ENST00000375799.3:c.1870C>T	p.Gln624Ter	p.Q624*	ENST00000375799	NM_015164.2	624	Cag/Tag	0	1	1	UPI00001C1D9C	0	NA	ENST00000375799		ENSG00000116786	29131		13	0		HGNC	p.Q604X		PLEKHM2		SNV							ENST00000375793	protein_coding	getma.org/?cm=var&var=hg19,1,16054801,C,T&fts=all		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF132		Q/*		T	NA	2097/4122		NA					YES	PLEKHM2,stop_gained,p.Gln624Ter,ENST00000375799,NM_015164.2;PLEKHM2,stop_gained,p.Gln604Ter,ENST00000375793,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,upstream_gene_variant,,ENST00000477849,;							HIGH	1870/3060	Q624*	PKHM2_HUMAN			Transcript			.	ENSP00000364956		CCDS44063.1			1	
ERAP1	0	LGGM	GRCh37	5	96139252	96139252	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000296754.3:c.378C>A	p.Pro126=	p.P126=	ENST00000296754	NM_016442.3	126	ccC/ccA	0	1		UPI0000041388	0		ENST00000443439		ENSG00000164307	18173		20			HGNC	p.P126P		ERAP1		SNV							ENST00000443439	protein_coding			hmmpanther:PTHR11533:SF156,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:0038696		P		T		445/4805				D6RAL9_HUMAN				ERAP1,synonymous_variant,p.=,ENST00000296754,NM_016442.3;ERAP1,synonymous_variant,p.=,ENST00000443439,NM_001040458.1,NM_001198541.1;ERAP1,synonymous_variant,p.=,ENST00000507154,;ERAP1,5_prime_UTR_variant,,ENST00000508227,;ERAP1,5_prime_UTR_variant,,ENST00000503921,;CTD-2260A17.3,upstream_gene_variant,,ENST00000606656,;CTD-2260A17.3,upstream_gene_variant,,ENST00000606346,;							LOW	378/2826		ERAP1_HUMAN			Transcript			.	ENSP00000406304		CCDS47250.1			1	
MGAT5B	0	LGGM	GRCh37	17	74922733	74922733	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000428789.2:c.1245G>T	p.Glu415Asp	p.E415D	ENST00000428789	NM_198955.1	415	gaG/gaT	0	1		UPI00001BFAF5	0	NA	ENST00000569840		ENSG00000167889	24140		15	1.405		HGNC	p.E404D		MGAT5B		SNV							ENST00000569840	protein_coding	getma.org/?cm=var&var=hg19,17,74922733,G,T&fts=all		hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024		E/D		T	low	1786/4492		getma.org/?cm=msa&ty=f&p=MGT5B_HUMAN&rb=1&re=790&var=E404D	tolerated(0.2)	H3BR20_HUMAN				MGAT5B,missense_variant,p.Glu404Asp,ENST00000569840,NM_001199172.1;MGAT5B,missense_variant,p.Glu404Asp,ENST00000301618,NM_144677.2;MGAT5B,missense_variant,p.Glu415Asp,ENST00000428789,NM_198955.1;MGAT5B,downstream_gene_variant,,ENST00000563627,;MGAT5B,missense_variant,p.Glu415Asp,ENST00000565043,;							MODERATE	1212/2379	E404D	MGT5B_HUMAN			Transcript		benign(0.261)	.	ENSP00000456037		CCDS59299.1			1	
BEST3	0	LGGM	GRCh37	12	70066687	70066687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000330891.5:c.926G>T	p.Trp309Leu	p.W309L	ENST00000330891	NM_032735.2	309	tGg/tTg	0	1	1	UPI000006E397	0	NA	ENST00000330891		ENSG00000127325	17105		39	3.16		HGNC	p.W152L		BEST3		SNV							ENST00000552295	protein_coding	getma.org/?cm=var&var=hg19,12,70066687,C,A&fts=all		hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2,Pfam_domain:PF01062		W/L		A	medium	1153/3532		getma.org/?cm=msa&ty=f&p=BEST3_HUMAN&rb=1&re=317&var=W309L	deleterious(0.02)	F8VVZ2_HUMAN			YES	BEST3,missense_variant,p.Trp309Leu,ENST00000330891,NM_032735.2;BEST3,missense_variant,p.Trp203Leu,ENST00000553096,NM_001282613.1;BEST3,missense_variant,p.Trp96Leu,ENST00000488961,NM_152439.2;BEST3,missense_variant,p.Trp96Leu,ENST00000476098,;BEST3,missense_variant,p.Trp309Leu,ENST00000331471,NM_001282614.1;BEST3,missense_variant,p.Trp152Leu,ENST00000552295,;BEST3,downstream_gene_variant,,ENST00000548658,;BEST3,missense_variant,p.Trp130Leu,ENST00000547208,;							MODERATE	926/2007	W309L	BEST3_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000332413		CCDS8992.2			1	
CAMP	0	LGGM	GRCh37	3	48266819	48266819	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	4	.	.	ENST00000296435.2:c.427C>A	p.Arg143=	p.R143=	ENST00000296435	NM_004345.4	143	Cgg/Agg	0	1		UPI0000000A67	0		ENST00000576243		ENSG00000164047	1472		53			HGNC	p.R140R		CAMP		SNV							ENST00000576243	protein_coding			hmmpanther:PTHR10206:SF0,hmmpanther:PTHR10206,Pfam_domain:PF12153		R		A		558/714								CAMP,synonymous_variant,p.=,ENST00000296435,NM_004345.4;CAMP,synonymous_variant,p.=,ENST00000576243,;							LOW	418/513		CAMP_HUMAN			Transcript			.	ENSP00000458149					1	
SHROOM1	0	LGGM	GRCh37	5	132159391	132159391	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000378679.3:c.1877C>A	p.Pro626His	p.P626H	ENST00000378679	NM_001172700.1	626	cCt/cAt	0	1	1	UPI000036FD4D	0	NA	ENST00000378679		ENSG00000164403	24084		17	0.895		HGNC	p.P626H		SHROOM1		SNV							ENST00000378679	protein_coding	getma.org/?cm=var&var=hg19,5,132159391,G,T&fts=all		Pfam_domain:PF08687,PROSITE_profiles:PS51307,hmmpanther:PTHR15012		P/H		T	low	2682/4019		getma.org/?cm=msa&ty=f&p=SHRM1_HUMAN&rb=543&re=824&var=P626H	tolerated(0.17)	C9JXU1_HUMAN			YES	SHROOM1,missense_variant,p.Pro626His,ENST00000378679,NM_001172700.1;SHROOM1,missense_variant,p.Pro626His,ENST00000319854,NM_133456.2;SHROOM1,missense_variant,p.Pro557His,ENST00000378676,;SHROOM1,downstream_gene_variant,,ENST00000440118,;SHROOM1,non_coding_transcript_exon_variant,,ENST00000488072,;SHROOM1,downstream_gene_variant,,ENST00000495680,;SHROOM1,downstream_gene_variant,,ENST00000606676,;							MODERATE	1877/2559	P626H	SHRM1_HUMAN			Transcript		benign(0.006)	.	ENSP00000367950		CCDS54902.1			1	
TNFSF15	0	LGGM	GRCh37	9	117553056	117553056	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000374045.4:c.432G>T	p.Ser144=	p.S144=	ENST00000374045	NM_005118.3	144	tcG/tcT	0	1	1	UPI000006F8DF	0		ENST00000374045		ENSG00000181634	11931		24			HGNC	p.S144S		TNFSF15		SNV			1				ENST00000374045	protein_coding			Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF24,SMART_domains:SM00207,Superfamily_domains:SSF49842		S		A		546/6687				D9N2U0_HUMAN			YES	TNFSF15,synonymous_variant,p.=,ENST00000374045,NM_005118.3,NM_001204344.1;TNFSF15,synonymous_variant,p.=,ENST00000374044,;AL390240.1,upstream_gene_variant,,ENST00000408807,;							LOW	432/756		TNF15_HUMAN			Transcript			.	ENSP00000363157		CCDS6809.1			1	
LRP1B	0	LGGM	GRCh37	2	141027833	141027833	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000389484.3:c.13225G>T	p.Glu4409Ter	p.E4409*	ENST00000389484	NM_018557.2	4409	Gag/Tag	0	1	1	UPI00001B045B	0	NA	ENST00000389484		ENSG00000168702	6693		48	0		HGNC	p.E4409X		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141027833,C,A&fts=all		Gene3D:2.10.25.10,PROSITE_profiles:PS50026,SMART_domains:SM00181,Superfamily_domains:SSF57196		E/*		A	NA	14197/16535		NA		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			YES	LRP1B,stop_gained,p.Glu4409Ter,ENST00000389484,NM_018557.2;LRP1B,stop_gained,p.Glu641Ter,ENST00000437977,;LRP1B,stop_gained,p.Glu141Ter,ENST00000442974,;							HIGH	13225/13800	E4409*	LRP1B_HUMAN			Transcript			.	ENSP00000374135		CCDS2182.1			1	
MET	0	LGGM	GRCh37	7	116412025	116412025	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000397752.3:c.3010C>A	p.Arg1004=	p.R1004=	ENST00000397752	NM_000245.2	1004	Cga/Aga	0	1		UPI000020F975	0		ENST00000397752		ENSG00000105976	7029		45			HGNC	p.R1022R		MET		SNV			1				ENST00000318493	protein_coding			hmmpanther:PTHR24416:SF261,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000617		R		A		3210/6635				Q9UEJ3_HUMAN,B4DPY6_HUMAN,B4DLF5_HUMAN				MET,synonymous_variant,p.=,ENST00000397752,NM_000245.2,NM_001127500.1;MET,synonymous_variant,p.=,ENST00000318493,;MET,intron_variant,,ENST00000454623,;MET,downstream_gene_variant,,ENST00000422097,;							LOW	3010/4173		MET_HUMAN			Transcript			.	ENSP00000380860		CCDS43636.1			1	
HERC2	0	LGGM	GRCh37	15	28505931	28505931	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000261609.7:c.2308C>A	p.Pro770Thr	p.P770T	ENST00000261609	NM_004667.5	770	Cct/Act	0	1	1	UPI00004578F7	0	getma.org/pdb.php?prot=HERC2_HUMAN&from=725&to=924&var=P770T	ENST00000261609		ENSG00000128731	4868		29	1.335		HGNC	p.P770T		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28505931,G,T&fts=all		Gene3D:2.130.10.30,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Superfamily_domains:SSF50985		P/T		T	low	2417/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=725&re=924&var=P770T					YES	HERC2,missense_variant,p.Pro770Thr,ENST00000261609,NM_004667.5;HERC2,3_prime_UTR_variant,,ENST00000564734,;							MODERATE	2308/14505	P770T	HERC2_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000261609		CCDS10021.1			1	
CD3EAP	0	LGGM	GRCh37	19	45911841	45911841	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000309424.3:c.615G>T	p.Ser205=	p.S205=	ENST00000309424	NM_012099.1	205	tcG/tcT	0	1	1	UPI0000070847	0		ENST00000309424		ENSG00000117877	24219		38			HGNC	p.S205S		CD3EAP		SNV							ENST00000309424	protein_coding			hmmpanther:PTHR15484:SF7,hmmpanther:PTHR15484,Pfam_domain:PF08208		S		T		1103/3286				K7EQC8_HUMAN			YES	CD3EAP,synonymous_variant,p.=,ENST00000309424,NM_012099.1;CD3EAP,synonymous_variant,p.=,ENST00000589804,;CD3EAP,synonymous_variant,p.=,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,;							LOW	615/1533		RPA34_HUMAN			Transcript			.	ENSP00000310966		CCDS12661.1			1	
XXYLT1	0	LGGM	GRCh37	3	194790789	194790789	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000310380.6:c.837C>A	p.Gly279=	p.G279=	ENST00000310380	NM_152531.4	279	ggC/ggA	0	1	1	UPI000003B10F	0		ENST00000310380		ENSG00000173950	26639		18			HGNC	p.G279G		XXYLT1		SNV							ENST00000310380	protein_coding			Gene3D:3.90.550.10,Pfam_domain:PF01501,hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF17,Superfamily_domains:SSF53448		G		T		946/2727							YES	XXYLT1,synonymous_variant,p.=,ENST00000310380,NM_152531.4;XXYLT1,synonymous_variant,p.=,ENST00000437101,;XXYLT1,synonymous_variant,p.=,ENST00000355729,;XXYLT1,synonymous_variant,p.=,ENST00000429994,;XXYLT1,synonymous_variant,p.=,ENST00000356740,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000460582,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000491138,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000473200,;XXYLT1,non_coding_transcript_exon_variant,,ENST00000496644,;XXYLT1,3_prime_UTR_variant,,ENST00000418940,;							LOW	837/1182		XXLT1_HUMAN			Transcript			.	ENSP00000309640		CCDS43188.1			1	
TRIM42	0	LGGM	GRCh37	3	140401580	140401580	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000286349.3:c.618C>A	p.Pro206=	p.P206=	ENST00000286349	NM_152616.4	206	ccC/ccA	0	1	1	UPI00001AEAE0	0		ENST00000286349		ENSG00000155890	19014		47			HGNC	p.P206P		TRIM42		SNV							ENST00000286349	protein_coding			hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,Superfamily_domains:SSF57850		P		A		809/2539							YES	TRIM42,synonymous_variant,p.=,ENST00000286349,NM_152616.4;							LOW	618/2172		TRI42_HUMAN			Transcript			.	ENSP00000286349		CCDS3113.1			1	
PCED1A	0	LGGM	GRCh37	20	2819363	2819363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	4	.	.	ENST00000360652.2:c.473G>T	p.Arg158Leu	p.R158L	ENST00000360652	NM_022760.4	158	cGg/cTg	0	1	1	UPI00001285EE	0	NA	ENST00000360652		ENSG00000132635	16212		56	0.315		HGNC	p.R158L		PCED1A		SNV							ENST00000360652	protein_coding	getma.org/?cm=var&var=hg19,20,2819363,C,A&fts=all		Gene3D:3.40.50.1110,Pfam_domain:PF13839,hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF3,Superfamily_domains:SSF52266		R/L		A	neutral	976/2016		getma.org/?cm=msa&ty=f&p=F113A_HUMAN&rb=21&re=268&var=R158L	tolerated(0.34)				YES	PCED1A,missense_variant,p.Arg158Leu,ENST00000360652,NM_022760.4;PCED1A,missense_variant,p.Arg107Leu,ENST00000356872,NM_001271168.1;PCED1A,missense_variant,p.Arg158Leu,ENST00000439542,;PCED1A,missense_variant,p.Arg107Leu,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,non_coding_transcript_exon_variant,,ENST00000487501,;							MODERATE	473/1365	R158L	PED1A_HUMAN			Transcript		benign(0.062)	.	ENSP00000353868		CCDS13035.1			1	
PNMA2	0	LGGM	GRCh37	8	26365277	26365277	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000522362.2:c.995G>T	p.Arg332Leu	p.R332L	ENST00000522362	NM_007257.5	332	cGg/cTg	0	1	1	UPI0000073D3F	0	NA	ENST00000522362		ENSG00000240694	9159		39	1.75		HGNC	p.R332L		PNMA2		SNV							ENST00000522362	protein_coding	getma.org/?cm=var&var=hg19,8,26365277,C,A&fts=all		hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF16		R/L		A	low	1890/4965		getma.org/?cm=msa&ty=f&p=PNMA2_HUMAN&rb=304&re=364&var=R332L	deleterious(0)				YES	PNMA2,missense_variant,p.Arg332Leu,ENST00000522362,NM_007257.5;BNIP3L,downstream_gene_variant,,ENST00000523949,;PNMA2,downstream_gene_variant,,ENST00000522764,;PNMA2,downstream_gene_variant,,ENST00000523244,;PNMA2,downstream_gene_variant,,ENST00000518212,;PNMA2,downstream_gene_variant,,ENST00000521875,;PNMA2,downstream_gene_variant,,ENST00000522450,;PNMA2,downstream_gene_variant,,ENST00000521740,;PNMA2,downstream_gene_variant,,ENST00000523616,;							MODERATE	995/1095	R332L	PNMA2_HUMAN			Transcript		possibly_damaging(0.47)	.	ENSP00000429344		CCDS34868.1			1	
TFAP2B	0	LGGM	GRCh37	6	50807924	50807924	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	4	.	.	ENST00000393655.3:c.996C>A	p.Pro332=	p.P332=	ENST00000393655	NM_003221.3	332	ccC/ccA	0	1	1	UPI000020DE90	0		ENST00000393655		ENSG00000008196	11743		50			HGNC	p.P341P		TFAP2B		SNV			1				ENST00000263046	protein_coding			hmmpanther:PTHR10812:SF14,hmmpanther:PTHR10812,Pfam_domain:PF03299		P		A		1165/5773				A8K557_HUMAN			YES	TFAP2B,synonymous_variant,p.=,ENST00000263046,;TFAP2B,synonymous_variant,p.=,ENST00000393655,NM_003221.3;							LOW	996/1383		AP2B_HUMAN			Transcript			.	ENSP00000377265		CCDS4934.2			1	
AC079354.1	0	LGGM	GRCh37	2	203055039	203055039	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000498697.1:c.1383C>A	p.Thr461=	p.T461=	ENST00000498697		461	acC/acA	0	1	1	UPI0001B798AC	0		ENST00000498697		ENSG00000182329			42			Clone_based_vega_gene	p.T461T		AC079354.1		SNV							ENST00000498697	protein_coding			hmmpanther:PTHR21937		T		A		1383/1925				H7C5G6_HUMAN				AC079354.1,synonymous_variant,p.=,ENST00000498697,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000469462,;							LOW	1383/1925					Transcript			.	ENSP00000419834					1	
ADCY6	0	LGGM	GRCh37	12	49162407	49162407	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000307885.4:c.3474C>A	p.Thr1158=	p.T1158=	ENST00000307885	NM_015270.3	1158	acC/acA	0	1	1	UPI000003EC29	0		ENST00000307885		ENSG00000174233	237		20			HGNC	p.T1158T		ADCY6		SNV			1				ENST00000307885	protein_coding			Gene3D:3.30.70.1230,Pfam_domain:PF00211,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,Superfamily_domains:SSF55073		T		T		4169/6464				Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,synonymous_variant,p.=,ENST00000307885,NM_015270.3;ADCY6,synonymous_variant,p.=,ENST00000357869,;ADCY6,synonymous_variant,p.=,ENST00000550422,NM_020983.2;LINC00935,downstream_gene_variant,,ENST00000548380,;MIR4701,downstream_gene_variant,,ENST00000583094,;RP11-579D7.2,downstream_gene_variant,,ENST00000548742,;ADCY6,downstream_gene_variant,,ENST00000548351,;ADCY6,non_coding_transcript_exon_variant,,ENST00000547260,;ADCY6,downstream_gene_variant,,ENST00000552099,;LINC00935,downstream_gene_variant,,ENST00000548054,;							LOW	3474/3507		ADCY6_HUMAN			Transcript			.	ENSP00000311405		CCDS8767.1			1	
CARD10	0	LGGM	GRCh37	22	37888480	37888480	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	4	.	.	ENST00000403299.1:c.2713G>T	p.Gly905Cys	p.G905C	ENST00000403299		905	Ggc/Tgc	0	1		UPI0000044645	0	NA	ENST00000251973		ENSG00000100065	16422		9	1.355		HGNC	p.G905C		CARD10		SNV							ENST00000403299	protein_coding	getma.org/?cm=var&var=hg19,22,37888480,C,A&fts=all		hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF4		G/C		A	low	2753/3934		getma.org/?cm=msa&ty=f&p=CAR10_HUMAN&rb=900&re=1032&var=G905C	tolerated(0.13)	Q17RA1_HUMAN,B7Z3N7_HUMAN,B0QYC4_HUMAN				CARD10,missense_variant,p.Gly905Cys,ENST00000403299,;CARD10,missense_variant,p.Gly905Cys,ENST00000251973,NM_014550.3;CARD10,missense_variant,p.Gly619Cys,ENST00000406271,;CARD10,downstream_gene_variant,,ENST00000437756,;CARD10,downstream_gene_variant,,ENST00000433485,;CARD10,downstream_gene_variant,,ENST00000486118,;CARD10,non_coding_transcript_exon_variant,,ENST00000488141,;CARD10,non_coding_transcript_exon_variant,,ENST00000467812,;							MODERATE	2713/3099	G905C	CAR10_HUMAN			Transcript		benign(0.072)	.	ENSP00000251973		CCDS13948.1			1	
HIST1H4E	0	LGGM	GRCh37	6	26205102	26205102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000360441.4:c.230C>A	p.Ala77Asp	p.A77D	ENST00000360441	NM_003545.3	77	gCc/gAc	0	1	1	UPI000000003C	0		ENST00000360441		ENSG00000198518	4790		33			HGNC	p.A77D		HIST1H4E		SNV							ENST00000360441	protein_coding			Prints_domain:PR00623,Superfamily_domains:SSF47113,SMART_domains:SM00417,SMART_domains:SM00803,Pfam_domain:PF00125,Gene3D:1.10.20.10,hmmpanther:PTHR10484		A/D		A		245/1409			deleterious(0.01)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4E,missense_variant,p.Ala77Asp,ENST00000360441,NM_003545.3;HIST1H2BF,downstream_gene_variant,,ENST00000359985,NM_003522.3;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;							MODERATE	230/312		H4_HUMAN			Transcript		benign(0.275)	.	ENSP00000353624		CCDS4593.1			1	
HSD3B1	0	LGGM	GRCh37	1	120054210	120054210	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000369413.3:c.230C>A	p.Ser77Ter	p.S77*	ENST00000369413		77	tCg/tAg	0	1	1	UPI0000036BD2	0	NA	ENST00000369413		ENSG00000203857	5217		44	0		HGNC	p.S77X		HSD3B1		SNV							ENST00000531340	protein_coding	getma.org/?cm=var&var=hg19,1,120054210,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF296,Superfamily_domains:SSF51735		S/*		A	NA	375/1676		NA		E9PRN7_HUMAN			YES	HSD3B1,stop_gained,p.Ser79Ter,ENST00000235547,NM_000862.2;HSD3B1,stop_gained,p.Ser77Ter,ENST00000369413,;HSD3B1,stop_gained,p.Ser77Ter,ENST00000528909,;HSD3B1,stop_gained,p.Ser77Ter,ENST00000531340,;HSD3B1,non_coding_transcript_exon_variant,,ENST00000492140,;HSD3B1,downstream_gene_variant,,ENST00000487520,;							HIGH	230/1122	S77*	3BHS1_HUMAN			Transcript			.	ENSP00000358421		CCDS903.1			1	
GAPDH	0	LGGM	GRCh37	12	6647095	6647095	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000229239.5:c.871C>A	p.His291Asn	p.H291N	ENST00000229239	NM_002046.4	291	Cac/Aac	0	1	1	UPI000013C8ED	0	getma.org/pdb.php?prot=G3P_HUMAN&from=157&to=314&var=H291N	ENST00000229239		ENSG00000111640	4141		19	2.695		HGNC	p.H216N		GAPDH		SNV							ENST00000396856	protein_coding	getma.org/?cm=var&var=hg19,12,6647095,C,A&fts=all		Gene3D:3.30.360.10,Pfam_domain:PF02800,PIRSF_domain:PIRSF000149,hmmpanther:PTHR10836,Superfamily_domains:SSF55347,TIGRFAM_domain:TIGR01534		H/N		A	medium	1537/1875		getma.org/?cm=msa&ty=f&p=G3P_HUMAN&rb=157&re=314&var=H291N	deleterious_low_confidence(0.04)	Q5ZEY3_HUMAN,Q0QET7_HUMAN,K4EN11_HUMAN,G9BZK0_HUMAN,A4UCT1_HUMAN			YES	GAPDH,missense_variant,p.His291Asn,ENST00000229239,NM_002046.4;GAPDH,missense_variant,p.His291Asn,ENST00000396861,;GAPDH,missense_variant,p.His249Asn,ENST00000396858,NM_001256799.1;GAPDH,missense_variant,p.His216Asn,ENST00000396856,;GAPDH,missense_variant,p.His291Asn,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,;							MODERATE	871/1008	H291N	G3P_HUMAN			Transcript		benign(0.198)	.	ENSP00000229239		CCDS8549.1			1	
CD163L1	0	LGGM	GRCh37	12	7527236	7527236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000313599.3:c.3211C>A	p.His1071Asn	p.H1071N	ENST00000313599		1071	Cac/Aac	0	1	1	UPI000013F5AD	0	getma.org/pdb.php?prot=C163B_HUMAN&from=1039&to=1136&var=H1071N	ENST00000313599		ENSG00000177675	30375		27	0.575		HGNC	p.H1071N		CD163L1		SNV							ENST00000396630	protein_coding	getma.org/?cm=var&var=hg19,12,7527236,G,T&fts=all		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,Prints_domain:PR00258		H/N		T	neutral	3269/4615		getma.org/?cm=msa&ty=f&p=C163B_HUMAN&rb=1039&re=1136&var=H1071N	tolerated(0.1)	F5H7R7_HUMAN			YES	CD163L1,missense_variant,p.His1071Asn,ENST00000313599,;CD163L1,missense_variant,p.His1081Asn,ENST00000416109,NM_174941.4;CD163L1,missense_variant,p.His1071Asn,ENST00000396630,;CD163L1,downstream_gene_variant,,ENST00000544331,;							MODERATE	3211/4362	H1071N	C163B_HUMAN			Transcript		possibly_damaging(0.627)	.	ENSP00000315945		CCDS8577.1			1	
MBTPS1	0	LGGM	GRCh37	16	84101323	84101323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000343411.3:c.2177G>T	p.Trp726Leu	p.W726L	ENST00000343411	NM_003791.2	726	tGg/tTg	0	1	1	UPI0000033348	0	NA	ENST00000343411		ENSG00000140943	15456		25	2.76		HGNC	p.W726L		MBTPS1		SNV							ENST00000343411	protein_coding	getma.org/?cm=var&var=hg19,16,84101323,C,A&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF30		W/L		A	medium	2673/4338		getma.org/?cm=msa&ty=f&p=MBTP1_HUMAN&rb=480&re=1050&var=W726L	deleterious(0)	H3BV53_HUMAN			YES	MBTPS1,missense_variant,p.Trp726Leu,ENST00000343411,NM_003791.2;MBTPS1,downstream_gene_variant,,ENST00000569770,;MBTPS1,downstream_gene_variant,,ENST00000568051,;MBTPS1,non_coding_transcript_exon_variant,,ENST00000570064,;MBTPS1,downstream_gene_variant,,ENST00000564643,;MBTPS1,downstream_gene_variant,,ENST00000563231,;							MODERATE	2177/3159	W726L	MBTP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000344223		CCDS10941.1			1	
TSEN34	0	LGGM	GRCh37	19	54695999	54695999	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000396383.1:c.520G>T	p.Gly174Trp	p.G174W	ENST00000396383		174	Ggg/Tgg	0	1		UPI00000717CA	0	NA	ENST00000302937		ENSG00000170892	15506		45	1.245		HGNC	p.G177W	rs776927304	TSEN34		SNV			1				ENST00000456872	protein_coding	getma.org/?cm=var&var=hg19,19,54695999,G,T&fts=all		hmmpanther:PTHR13070,PIRSF_domain:PIRSF017250		G/W		T	low	707/1424	1.50E-05	getma.org/?cm=msa&ty=f&p=SEN34_HUMAN&rb=1&re=200&var=G174W	deleterious(0)	B0V3J0_HUMAN				TSEN34,missense_variant,p.Gly174Trp,ENST00000396383,;TSEN34,missense_variant,p.Gly174Trp,ENST00000302937,NM_024075.3;TSEN34,missense_variant,p.Gly174Trp,ENST00000396388,NM_001077446.2;TSEN34,missense_variant,p.Gly174Trp,ENST00000429671,;TSEN34,missense_variant,p.Gly174Trp,ENST00000455798,;TSEN34,missense_variant,p.Gly177Trp,ENST00000456872,;MBOAT7,upstream_gene_variant,,ENST00000245615,NM_024298.3;MBOAT7,upstream_gene_variant,,ENST00000431666,NM_001146083.1;MBOAT7,upstream_gene_variant,,ENST00000338624,NM_001146056.1;MBOAT7,upstream_gene_variant,,ENST00000391754,NM_001146082.1;MBOAT7,upstream_gene_variant,,ENST00000414665,;MBOAT7,upstream_gene_variant,,ENST00000449249,;MBOAT7,upstream_gene_variant,,ENST00000453320,;CTD-3093M3.1,upstream_gene_variant,,ENST00000594382,;MBOAT7,upstream_gene_variant,,ENST00000474910,;MBOAT7,upstream_gene_variant,,ENST00000495968,;TSEN34,non_coding_transcript_exon_variant,,ENST00000496583,;MBOAT7,upstream_gene_variant,,ENST00000437868,;MBOAT7,upstream_gene_variant,,ENST00000491216,;MBOAT7,upstream_gene_variant,,ENST00000464098,;							MODERATE	520/933	G174W	SEN34_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000305524	8.28E-06	CCDS42609.1			1	
FARSA	0	LGGM	GRCh37	19	13033694	13033694	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000314606.4:c.1395G>T	p.Thr465=	p.T465=	ENST00000314606	NM_004461.2	465	acG/acT	0	1	1	UPI0000136413	0		ENST00000314606		ENSG00000179115	3592	8.64E-05	29			HGNC	p.T505T	rs200932264	FARSA		SNV							ENST00000588025	protein_coding			Superfamily_domains:SSF55681,Gene3D:3.30.930.10,Pfam_domain:PF01409,TIGRFAM_domain:TIGR00468,hmmpanther:PTHR11538:SF15,hmmpanther:PTHR11538,PROSITE_profiles:PS50862		T		A		1414/1814				Q6IBR2_HUMAN			YES	FARSA,synonymous_variant,p.=,ENST00000588025,;FARSA,synonymous_variant,p.=,ENST00000314606,NM_004461.2;FARSA,synonymous_variant,p.=,ENST00000423140,;FARSA,intron_variant,,ENST00000587488,;SYCE2,upstream_gene_variant,,ENST00000293695,NM_001105578.1;FARSA,downstream_gene_variant,,ENST00000593021,;MIR5695,downstream_gene_variant,,ENST00000579717,;FARSA,3_prime_UTR_variant,,ENST00000586146,;FARSA,non_coding_transcript_exon_variant,,ENST00000588965,;							LOW	1395/1527		SYFA_HUMAN			Transcript			.	ENSP00000320309	8.24E-06	CCDS12287.1			1	
PCDHGB4	0	LGGM	GRCh37	5	140768832	140768832	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000519479.1:c.1381G>T	p.Glu461Ter	p.E461*	ENST00000519479	NM_003736.2	461	Gag/Tag	0	1	1	UPI000006F773	0	NA	ENST00000519479		ENSG00000253953	8711		37	0		HGNC	p.E461X		PCDHGB4		SNV							ENST00000519479	protein_coding	getma.org/?cm=var&var=hg19,5,140768832,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,Superfamily_domains:SSF49313		E/*		T	NA	1381/4578		NA		Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB4,stop_gained,p.Glu461Ter,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;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;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;							HIGH	1381/2772	E461*	PCDGG_HUMAN			Transcript			.	ENSP00000428288		CCDS54928.1			1	
MTERF	0	LGGM	GRCh37	7	91503356	91503356	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000351870.3:c.752G>T	p.Arg251Leu	p.R251L	ENST00000351870	NM_006980.3	251	cGg/cTg	0	1	1	UPI000004A0C8	0	getma.org/pdb.php?prot=MTERF_HUMAN&from=73&to=396&var=R251L	ENST00000351870		ENSG00000127989	21463		36	1.955		HGNC	p.R231L		MTERF		SNV							ENST00000406735	protein_coding	getma.org/?cm=var&var=hg19,7,91503356,C,A&fts=all		Pfam_domain:PF02536,hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF2,SMART_domains:SM00733		R/L		A	medium	846/1997		getma.org/?cm=msa&ty=f&p=MTERF_HUMAN&rb=73&re=396&var=R251L	tolerated(0.09)	C9JU79_HUMAN,C9JNM8_HUMAN,C9JE25_HUMAN,B4DPR9_HUMAN			YES	MTERF,missense_variant,p.Arg231Leu,ENST00000419292,;MTERF,missense_variant,p.Arg251Leu,ENST00000351870,NM_006980.3;MTERF,missense_variant,p.Arg231Leu,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,;							MODERATE	752/1200	R251L	MTERF_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000248643		CCDS5621.1			1	
BLTP2	0	LGGM	GRCh37	17	26965397	26965397	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	4	.	.	ENST00000528896.2:c.1385G>T	p.Arg462Leu	p.R462L	ENST00000528896	NM_014680.3	462	cGg/cTg	0	1	1	UPI00004B4130	0	NA	ENST00000528896		ENSG00000007202	28960		21	0.895		HGNC	p.R462L		KIAA0100		SNV							ENST00000005905	protein_coding	getma.org/?cm=var&var=hg19,17,26965397,C,A&fts=all		hmmpanther:PTHR15678,Pfam_domain:PF10344		R/L		A	low	1460/7407		getma.org/?cm=msa&ty=f&p=K0100_HUMAN&rb=448&re=674&var=R462L	deleterious(0.03)	Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,missense_variant,p.Arg462Leu,ENST00000528896,NM_014680.3;KIAA0100,missense_variant,p.Arg319Leu,ENST00000544884,;KIAA0100,missense_variant,p.Arg319Leu,ENST00000389003,;KIAA0100,upstream_gene_variant,,ENST00000577261,;RP11-192H23.7,downstream_gene_variant,,ENST00000577814,;RP11-192H23.7,downstream_gene_variant,,ENST00000583787,;KIAA0100,downstream_gene_variant,,ENST00000577417,;KIAA0100,downstream_gene_variant,,ENST00000580882,;KIAA0100,downstream_gene_variant,,ENST00000583403,;KIAA0100,downstream_gene_variant,,ENST00000577580,;KIAA0100,upstream_gene_variant,,ENST00000582417,;KIAA0100,upstream_gene_variant,,ENST00000581064,;KIAA0100,downstream_gene_variant,,ENST00000582901,;KIAA0100,downstream_gene_variant,,ENST00000581267,;KIAA0100,downstream_gene_variant,,ENST00000579253,;							MODERATE	1385/6708	R462L	K0100_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000436773		CCDS32595.1			1	
SLC5A5	0	LGGM	GRCh37	19	18001749	18001749	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000222248.3:c.1706G>T	p.Arg569Leu	p.R569L	ENST00000222248	NM_000453.2	569	cGg/cTg	0	1	1	UPI00001359F6	0	NA	ENST00000222248		ENSG00000105641	11040		37	0.805		HGNC	p.R569L		SLC5A5		SNV			1				ENST00000222248	protein_coding	getma.org/?cm=var&var=hg19,19,18001749,G,T&fts=all		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF18		R/L		T	low	2053/3576		getma.org/?cm=msa&ty=f&p=SC5A5_HUMAN&rb=453&re=643&var=R569L	tolerated(0.24)	Q9UEU3_HUMAN			YES	SLC5A5,missense_variant,p.Arg569Leu,ENST00000222248,NM_000453.2;SLC5A5,downstream_gene_variant,,ENST00000597109,;							MODERATE	1706/1932	R569L	SC5A5_HUMAN			Transcript		benign(0.131)	.	ENSP00000222248		CCDS12368.1			1	
GTF3C1	0	LGGM	GRCh37	16	27506564	27506564	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000356183.4:c.2600G>T	p.Trp867Leu	p.W867L	ENST00000356183	NM_001520.3	867	tGg/tTg	0	1	1	UPI00001FF123	0	NA	ENST00000356183		ENSG00000077235	4664		15	0.455		HGNC	p.W867L		GTF3C1		SNV							ENST00000356183	protein_coding	getma.org/?cm=var&var=hg19,16,27506564,C,A&fts=all		hmmpanther:PTHR15180		W/L		A	neutral	2616/7018		getma.org/?cm=msa&ty=f&p=TF3C1_HUMAN&rb=602&re=2107&var=W867L	tolerated(0.83)	Q7Z7H4_HUMAN,I3L1Z3_HUMAN			YES	GTF3C1,missense_variant,p.Trp867Leu,ENST00000356183,NM_001520.3;GTF3C1,missense_variant,p.Trp867Leu,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;							MODERATE	2600/6330	W867L	TF3C1_HUMAN			Transcript		benign(0.001)	.	ENSP00000348510		CCDS32414.1			1	
AC078925.1	0	LGGM	GRCh37	12	131514755	131514755	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000601092.1:c.15G>T	p.Thr5=	p.T5=	ENST00000601092		5	acG/acT	0	1	1	UPI00015DFF9F	0		ENST00000601092		ENSG00000268091			43			Clone_based_ensembl_gene	p.T5T		AC078925.1		SNV							ENST00000601092	protein_coding					T		A		15/507				M0R379_HUMAN			YES	AC078925.1,synonymous_variant,p.=,ENST00000601092,;GPR133,intron_variant,,ENST00000261654,NM_198827.3;GPR133,intron_variant,,ENST00000376682,;GPR133,intron_variant,,ENST00000535015,;RP11-76C10.2,downstream_gene_variant,,ENST00000535370,;							LOW	15/507					Transcript			.	ENSP00000473044					1	
ADAR	0	LGGM	GRCh37	1	154574661	154574661	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000368474.4:c.457G>T	p.Gly153Trp	p.G153W	ENST00000368474	NM_001111.4	153	Ggg/Tgg	0	1	1	UPI000045626B	0	getma.org/pdb.php?prot=DSRAD_HUMAN&from=135&to=201&var=G153W	ENST00000368474		ENSG00000160710	225		49	2.34		HGNC	p.G196W		ADAR		SNV			1				ENST00000292205	protein_coding	getma.org/?cm=var&var=hg19,1,154574661,C,A&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF02295,PROSITE_profiles:PS50139,SMART_domains:SM00550,Superfamily_domains:SSF46785		G/W		A	medium	657/6620		getma.org/?cm=msa&ty=f&p=DSRAD_HUMAN&rb=135&re=201&var=G153W	deleterious(0)				YES	ADAR,missense_variant,p.Gly153Trp,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,missense_variant,p.Gly196Trp,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,missense_variant,p.Gly148Trp,ENST00000529168,;ADAR,5_prime_UTR_variant,,ENST00000368471,;ADAR,non_coding_transcript_exon_variant,,ENST00000471068,;ADAR,non_coding_transcript_exon_variant,,ENST00000494866,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,non_coding_transcript_exon_variant,,ENST00000463920,;							MODERATE	457/3681	G153W	DSRAD_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000357459		CCDS1071.1			1	
DIAPH3	0	LGGM	GRCh37	13	60453389	60453389	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	4	.	.	ENST00000400324.4:c.2581G>T	p.Gly861Ter	p.G861*	ENST00000400324	NM_001042517.1	861	Gga/Tga	0	1	1	UPI0000DAC774	0	NA	ENST00000400324		ENSG00000139734	15480		55	0		HGNC	p.G791X		DIAPH3		SNV			1				ENST00000400319	protein_coding	getma.org/?cm=var&var=hg19,13,60453389,C,A&fts=all		Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,SMART_domains:SM00498,Superfamily_domains:SSF101447		G/*		A	NA	2802/4804		NA					YES	DIAPH3,stop_gained,p.Gly861Ter,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,stop_gained,p.Gly861Ter,ENST00000400330,;DIAPH3,stop_gained,p.Gly850Ter,ENST00000377908,;DIAPH3,stop_gained,p.Gly861Ter,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,stop_gained,p.Gly815Ter,ENST00000400320,NM_001258367.1;DIAPH3,stop_gained,p.Gly791Ter,ENST00000400319,NM_001258368.1;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;							HIGH	2581/3582	G861*	DIAP3_HUMAN			Transcript			.	ENSP00000383178		CCDS41898.1			1	
DCTN1	0	LGGM	GRCh37	2	74593935	74593935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000361874.3:c.2441C>A	p.Pro814Gln	p.P814Q	ENST00000361874	NM_004082.4	814	cCa/cAa	0	1	1	UPI0000129A25	0	NA	ENST00000361874		ENSG00000204843	2711		26	1.935		HGNC	p.P680Q		DCTN1		SNV			1				ENST00000409438	protein_coding	getma.org/?cm=var&var=hg19,2,74593935,G,T&fts=all		hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916		P/Q		T	medium	2759/4500		getma.org/?cm=msa&ty=f&p=DCTN1_HUMAN&rb=806&re=1005&var=P814Q	deleterious(0)	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN			YES	DCTN1,missense_variant,p.Pro814Gln,ENST00000361874,NM_004082.4;DCTN1,missense_variant,p.Pro807Gln,ENST00000394003,NM_001190837.1;DCTN1,missense_variant,p.Pro777Gln,ENST00000409240,NM_001190836.1;DCTN1,missense_variant,p.Pro797Gln,ENST00000409868,;DCTN1,missense_variant,p.Pro680Gln,ENST00000407639,NM_023019.3;DCTN1,missense_variant,p.Pro680Gln,ENST00000409438,NM_001135041.2;DCTN1,missense_variant,p.Pro794Gln,ENST00000409567,NM_001135040.2;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,non_coding_transcript_exon_variant,,ENST00000495643,;DCTN1,intron_variant,,ENST00000497666,;DCTN1,downstream_gene_variant,,ENST00000463583,;DCTN1,missense_variant,p.Pro777Gln,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;RP11-287D1.3,upstream_gene_variant,,ENST00000451608,;DCTN1,upstream_gene_variant,,ENST00000491465,;DCTN1,downstream_gene_variant,,ENST00000477966,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,upstream_gene_variant,,ENST00000492717,;DCTN1,downstream_gene_variant,,ENST00000462813,;							MODERATE	2441/3837	P814Q	DCTN1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000354791		CCDS1939.1			1	
AP1M1	0	LGGM	GRCh37	19	16319915	16319915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000444449.2:c.473C>A	p.Ser158Tyr	p.S158Y	ENST00000444449	NM_001130524.1	158	tCc/tAc	0	1		UPI0000124FEA	0	getma.org/pdb.php?prot=AP1M1_HUMAN&from=157&to=422&var=S158Y	ENST00000291439		ENSG00000072958	13667		40	3.91		HGNC	p.S158Y		AP1M1		SNV							ENST00000291439	protein_coding	getma.org/?cm=var&var=hg19,19,16319915,C,A&fts=all		Superfamily_domains:0038852,Gene3D:2.60.40.1170,Pfam_domain:PF00928,PIRSF_domain:PIRSF005992,PROSITE_patterns:PS00990,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF22		S/Y		A	high	922/2635		getma.org/?cm=msa&ty=f&p=AP1M1_HUMAN&rb=157&re=422&var=S158Y	deleterious(0)	K7ER75_HUMAN,K7EQ90_HUMAN,K7EPJ8_HUMAN,K7ENA7_HUMAN				AP1M1,missense_variant,p.Ser158Tyr,ENST00000291439,NM_032493.3;AP1M1,missense_variant,p.Ser158Tyr,ENST00000444449,NM_001130524.1;AP1M1,missense_variant,p.Ser86Tyr,ENST00000541844,;AP1M1,missense_variant,p.Ser86Tyr,ENST00000590756,;AP1M1,missense_variant,p.Ser158Tyr,ENST00000429941,;AP1M1,downstream_gene_variant,,ENST00000591775,;AP1M1,downstream_gene_variant,,ENST00000589822,;AP1M1,downstream_gene_variant,,ENST00000590945,;AP1M1,downstream_gene_variant,,ENST00000590263,;AP1M1,non_coding_transcript_exon_variant,,ENST00000586461,;AP1M1,non_coding_transcript_exon_variant,,ENST00000591966,;AP1M1,non_coding_transcript_exon_variant,,ENST00000589782,;AP1M1,downstream_gene_variant,,ENST00000589991,;AP1M1,downstream_gene_variant,,ENST00000586957,;							MODERATE	473/1272	S158Y	AP1M1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000291439		CCDS12342.1			1	
KSR1	0	LGGM	GRCh37	17	25910107	25910107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	4	.	.	ENST00000398988.3:c.545G>T	p.Arg182Leu	p.R182L	ENST00000398988	NM_014238.1	182	cGc/cTc	0	1	1	UPI00005B2F0C	0	NA	ENST00000398988		ENSG00000141068	6465		9	2.67		HGNC	p.R182L		KSR1		SNV							ENST00000398988	protein_coding	getma.org/?cm=var&var=hg19,17,25910107,G,T&fts=all		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413		R/L		T	medium	990/7234		getma.org/?cm=msa&ty=f&p=KSR1_HUMAN&rb=167&re=366&var=R317L	deleterious(0)	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN			YES	KSR1,missense_variant,p.Arg182Leu,ENST00000398988,NM_014238.1;KSR1,missense_variant,p.Arg319Leu,ENST00000319524,;KSR1,missense_variant,p.Arg182Leu,ENST00000268763,;KSR1,missense_variant,p.Arg319Leu,ENST00000509603,;KSR1,missense_variant,p.Arg54Leu,ENST00000398982,;KSR1,downstream_gene_variant,,ENST00000583370,;KSR1,downstream_gene_variant,,ENST00000580163,;KSR1,upstream_gene_variant,,ENST00000581975,;KSR1,downstream_gene_variant,,ENST00000582311,;KSR1,upstream_gene_variant,,ENST00000580822,;KSR1,missense_variant,p.Arg25Leu,ENST00000577823,;KSR1,non_coding_transcript_exon_variant,,ENST00000579399,;KSR1,downstream_gene_variant,,ENST00000398985,;							MODERATE	545/2289	R317L				Transcript		probably_damaging(0.993)	.	ENSP00000381958		CCDS58532.1			1	
NFE2L3	0	LGGM	GRCh37	7	26225383	26225383	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000056233.3:c.2065C>A	p.Gln689Lys	p.Q689K	ENST00000056233	NM_004289.6	689	Caa/Aaa	0	1	1	UPI000007206C	0	NA	ENST00000056233		ENSG00000050344	7783		43	0.49		HGNC	p.Q689K		NFE2L3		SNV							ENST00000056233	protein_coding	getma.org/?cm=var&var=hg19,7,26225383,C,A&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF8		Q/K		A	neutral	2324/3686		getma.org/?cm=msa&ty=f&p=NF2L3_HUMAN&rb=640&re=694&var=Q689K	tolerated(0.16)				YES	NFE2L3,missense_variant,p.Gln689Lys,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,;							MODERATE	2065/2085	Q689K	NF2L3_HUMAN			Transcript		benign(0.05)	.	ENSP00000056233		CCDS5396.1			1	
SORL1	0	LGGM	GRCh37	11	121490523	121490523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000260197.7:c.5786C>A	p.Pro1929Gln	p.P1929Q	ENST00000260197	NM_003105.5	1929	cCg/cAg	0	1	1	UPI000013D0B1	0	NA	ENST00000260197		ENSG00000137642	11185		39	1.1		HGNC	p.P873Q		SORL1		SNV			1				ENST00000525532	protein_coding	getma.org/?cm=var&var=hg19,11,121490523,C,A&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20		P/Q		A	low	5915/10904		getma.org/?cm=msa&ty=f&p=SORL_HUMAN&rb=1736&re=1932&var=P1929Q	deleterious(0)	E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,missense_variant,p.Pro1929Gln,ENST00000260197,NM_003105.5;SORL1,missense_variant,p.Pro873Gln,ENST00000525532,;SORL1,missense_variant,p.Pro775Gln,ENST00000532694,;SORL1,missense_variant,p.Pro839Gln,ENST00000534286,;SORL1,missense_variant,p.Pro544Gln,ENST00000527934,;SORL1,non_coding_transcript_exon_variant,,ENST00000528339,;SORL1,non_coding_transcript_exon_variant,,ENST00000534754,;SORL1,non_coding_transcript_exon_variant,,ENST00000524633,;							MODERATE	5786/6645	P1929Q	SORL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260197		CCDS8436.1			1	
ASH2L	0	LGGM	GRCh37	8	37978641	37978641	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000343823.6:c.1139G>T	p.Arg380Leu	p.R380L	ENST00000343823	NM_004674.4	380	cGg/cTg	0	1	1	UPI0000038D65	0	getma.org/pdb.php?prot=ASH2L_HUMAN&from=360&to=583&var=R380L	ENST00000343823		ENSG00000129691	744		38	0.755		HGNC	p.R286L		ASH2L		SNV							ENST00000428278	protein_coding	getma.org/?cm=var&var=hg19,8,37978641,G,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR10598,Superfamily_domains:SSF49899		R/L		T	neutral	1448/3090		getma.org/?cm=msa&ty=f&p=ASH2L_HUMAN&rb=360&re=583&var=R380L	tolerated(0.22)	F5H8F7_HUMAN			YES	ASH2L,missense_variant,p.Arg380Leu,ENST00000343823,NM_004674.4;ASH2L,missense_variant,p.Arg286Leu,ENST00000428278,NM_001105214.2;ASH2L,missense_variant,p.Arg286Leu,ENST00000250635,;ASH2L,missense_variant,p.Arg286Leu,ENST00000521652,NM_001261832.1;ASH2L,missense_variant,p.Arg241Leu,ENST00000545394,NM_001282272.1;RP11-90P5.4,upstream_gene_variant,,ENST00000519081,;RP11-90P5.5,upstream_gene_variant,,ENST00000476186,;ASH2L,downstream_gene_variant,,ENST00000524263,;ASH2L,3_prime_UTR_variant,,ENST00000517496,;ASH2L,non_coding_transcript_exon_variant,,ENST00000518186,;ASH2L,downstream_gene_variant,,ENST00000522675,;							MODERATE	1139/1887	R380L	ASH2L_HUMAN			Transcript		benign(0.097)	.	ENSP00000340896		CCDS6101.1			1	
UBR2	0	LGGM	GRCh37	6	42647467	42647467	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000372899.1:c.4615G>T	p.Gly1539Ter	p.G1539*	ENST00000372899	NM_015255.2	1539	Gga/Tga	0	1	1	UPI0000074466	0	NA	ENST00000372899		ENSG00000024048	21289		35	0		HGNC	p.G1539X		UBR2		SNV							ENST00000372899	protein_coding	getma.org/?cm=var&var=hg19,6,42647467,G,T&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28		G/*		T	NA	4873/7857		NA		B3KXG6_HUMAN			YES	UBR2,stop_gained,p.Gly1539Ter,ENST00000372901,;UBR2,stop_gained,p.Gly1539Ter,ENST00000372899,NM_015255.2;UBR2,3_prime_UTR_variant,,ENST00000372883,;							HIGH	4615/5268	G1539*	UBR2_HUMAN			Transcript			.	ENSP00000361990		CCDS4870.1			1	
GRIN1	0	LGGM	GRCh37	9	140034045	140034045	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000371553.3:c.107G>T	p.Arg36Leu	p.R36L	ENST00000371553	NM_001185090.1	36	cGg/cTg	0	1		UPI0000130282	0	NA	ENST00000371561		ENSG00000176884	4584		16	0		HGNC	p.R36L		GRIN1		SNV			1				ENST00000371560	protein_coding	getma.org/?cm=var&var=hg19,9,140034045,G,T&fts=all		Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		R/L		T	neutral	1204/5142		getma.org/?cm=msa&ty=f&p=NMDZ1_HUMAN&rb=1&re=37&var=R36L	tolerated(0.13)					GRIN1,missense_variant,p.Arg36Leu,ENST00000371561,NM_007327.3;GRIN1,missense_variant,p.Arg36Leu,ENST00000315048,;GRIN1,missense_variant,p.Arg36Leu,ENST00000350902,;GRIN1,missense_variant,p.Arg36Leu,ENST00000371546,;GRIN1,missense_variant,p.Arg36Leu,ENST00000371555,;GRIN1,missense_variant,p.Arg36Leu,ENST00000371550,NM_021569.3;GRIN1,missense_variant,p.Arg36Leu,ENST00000371553,NM_001185090.1;GRIN1,missense_variant,p.Arg36Leu,ENST00000371560,NM_001185091.1;GRIN1,missense_variant,p.Arg36Leu,ENST00000371559,NM_000832.6;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;							MODERATE	107/2817	R36L	NMDZ1_HUMAN			Transcript		benign(0.032)	.	ENSP00000360616		CCDS7031.1			1	
MATN1	0	LGGM	GRCh37	1	31188768	31188768	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000373765.4:c.1195G>T	p.Ala399Ser	p.A399S	ENST00000373765	NM_002379.3	399	Gcc/Tcc	0	1	1	UPI000004F1ED	0	getma.org/pdb.php?prot=MATN1_HUMAN&from=275&to=451&var=A399S	ENST00000373765		ENSG00000162510	6907		12	3.025		HGNC	p.A399S		MATN1		SNV							ENST00000373765	protein_coding	getma.org/?cm=var&var=hg19,1,31188768,C,A&fts=all		Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,Gene3D:3.40.50.410,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF14,PROSITE_profiles:PS50234		A/S		A	medium	1231/3832		getma.org/?cm=msa&ty=f&p=MATN1_HUMAN&rb=275&re=451&var=A399S	deleterious(0)				YES	MATN1,missense_variant,p.Ala399Ser,ENST00000373765,NM_002379.3;MATN1-AS1,upstream_gene_variant,,ENST00000414532,;MATN1-AS1,upstream_gene_variant,,ENST00000454613,;MATN1-AS1,upstream_gene_variant,,ENST00000414763,;MATN1,non_coding_transcript_exon_variant,,ENST00000494561,;MATN1,downstream_gene_variant,,ENST00000477320,;							MODERATE	1195/1491	A399S	MATN1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000362870		CCDS336.1			1	
CAND2	0	LGGM	GRCh37	3	12858283	12858283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000456430.2:c.1852C>A	p.Leu618Met	p.L618M	ENST00000456430	NM_001162499.1	618	Ctg/Atg	0	1	1	UPI00005795FA	0	getma.org/pdb.php?prot=CAND2_HUMAN&from=601&to=800&var=L618M	ENST00000456430		ENSG00000144712	30689		14	1.355		HGNC	p.L618M		CAND2		SNV							ENST00000456430	protein_coding	getma.org/?cm=var&var=hg19,3,12858283,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		L/M		A	low	1893/4573		getma.org/?cm=msa&ty=f&p=CAND2_HUMAN&rb=601&re=800&var=L618M	tolerated(0.08)				YES	CAND2,missense_variant,p.Leu618Met,ENST00000456430,NM_001162499.1;CAND2,missense_variant,p.Leu525Met,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;							MODERATE	1852/3711	L618M	CAND2_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000387641		CCDS54554.1			1	
CELSR1	0	LGGM	GRCh37	22	46768835	46768835	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	3	4	.	.	ENST00000262738.3:c.7704G>T	p.Thr2568=	p.T2568=	ENST00000262738	NM_014246.1	2568	acG/acT	0	1	1	UPI0000040648	0		ENST00000262738		ENSG00000075275	1850		7			HGNC	p.T2568T	rs747454782	CELSR1	0.000124	SNV			1				ENST00000262738	protein_coding			Superfamily_domains:SSF81321,Pfam_domain:PF00002,hmmpanther:PTHR24026,PROSITE_profiles:PS50261		T		A		7704/11389				Q8NDT0_HUMAN			YES	CELSR1,synonymous_variant,p.=,ENST00000262738,NM_014246.1;CELSR1,non_coding_transcript_exon_variant,,ENST00000468025,;							LOW	7704/9045		CELR1_HUMAN			Transcript			.	ENSP00000262738	1.65E-05	CCDS14076.1			1	
GALNT14	0	LGGM	GRCh37	2	31152342	31152342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	4	.	.	ENST00000324589.5:c.1085G>T	p.Arg362Leu	p.R362L	ENST00000324589	NM_001253826.1	362	cGg/cTg	0	1		UPI000000D723	0	getma.org/pdb.php?prot=GLT14_HUMAN&from=341&to=419&var=R357L	ENST00000349752		ENSG00000158089	22946		14	4.475		HGNC	p.R324L		GALNT14		SNV							ENST00000356174	protein_coding	getma.org/?cm=var&var=hg19,2,31152342,C,A&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF8,Superfamily_domains:SSF53448		R/L		A	high	1710/2733		getma.org/?cm=msa&ty=f&p=GLT14_HUMAN&rb=341&re=419&var=R357L	deleterious(0)					GALNT14,missense_variant,p.Arg357Leu,ENST00000349752,NM_024572.3;GALNT14,missense_variant,p.Arg337Leu,ENST00000406653,NM_001253827.1;GALNT14,missense_variant,p.Arg362Leu,ENST00000324589,NM_001253826.1;GALNT14,missense_variant,p.Arg324Leu,ENST00000356174,;GALNT14,missense_variant,p.Arg322Leu,ENST00000420311,;GALNT14,missense_variant,p.Arg324Leu,ENST00000430167,;GALNT14,non_coding_transcript_exon_variant,,ENST00000486564,;GALNT14,downstream_gene_variant,,ENST00000464038,;GALNT14,upstream_gene_variant,,ENST00000475320,;GALNT14,downstream_gene_variant,,ENST00000481023,;GALNT14,3_prime_UTR_variant,,ENST00000455477,;							MODERATE	1070/1659	R357L	GLT14_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288988		CCDS1773.2			1	
C16orf46	0	LGGM	GRCh37	16	81094964	81094964	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000299578.5:c.990G>T	p.Arg330=	p.R330=	ENST00000299578	NM_152337.2	330	cgG/cgT	0	1	1	UPI000013E5BE	0		ENST00000299578		ENSG00000166455	26525		22			HGNC	p.R330R		C16orf46		SNV							ENST00000378611	protein_coding			Pfam_domain:PF15032		R		A		1226/1598				H3BQQ0_HUMAN,B4DI50_HUMAN			YES	C16orf46,synonymous_variant,p.=,ENST00000378611,NM_001100873.1;C16orf46,synonymous_variant,p.=,ENST00000299578,NM_152337.2;C16orf46,downstream_gene_variant,,ENST00000565253,;RP11-303E16.5,downstream_gene_variant,,ENST00000562450,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,downstream_gene_variant,,ENST00000444657,;							LOW	990/1188		CP046_HUMAN			Transcript			.	ENSP00000299578		CCDS10932.1			1	
GAB4	0	LGGM	GRCh37	22	17446075	17446075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	4	.	.	ENST00000400588.1:c.1372G>T	p.Gly458Trp	p.G458W	ENST00000400588	NM_001037814.1	458	Ggg/Tgg	0	1	1	UPI00002326B5	0	NA	ENST00000400588		ENSG00000215568	18325		8	0.69		HGNC	p.G458W		GAB4		SNV							ENST00000400588	protein_coding	getma.org/?cm=var&var=hg19,22,17446075,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12156:SF20,hmmpanther:PTHR12156		G/W		A	neutral	1480/2630		getma.org/?cm=msa&ty=f&p=GAB4_HUMAN&rb=161&re=573&var=G458W	deleterious(0.03)				YES	GAB4,missense_variant,p.Gly458Trp,ENST00000400588,NM_001037814.1;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,3_prime_UTR_variant,,ENST00000465611,;							MODERATE	1372/1725	G458W	GAB4_HUMAN			Transcript		benign(0.246)	.	ENSP00000383431		CCDS42976.1			1	
PLXNA2	0	LGGM	GRCh37	1	208390139	208390139	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000367033.3:c.1129G>T	p.Gly377Cys	p.G377C	ENST00000367033	NM_025179.3	377	Ggc/Tgc	0	1	1	UPI000022B239	0	getma.org/pdb.php?prot=PLXA2_HUMAN&from=50&to=491&var=G377C	ENST00000367033		ENSG00000076356	9100		15	3.065		HGNC	p.G377C		PLXNA2		SNV							ENST00000367033	protein_coding	getma.org/?cm=var&var=hg19,1,208390139,C,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		G/C		A	medium	1887/11444		getma.org/?cm=msa&ty=f&p=PLXA2_HUMAN&rb=50&re=491&var=G377C	deleterious(0)				YES	PLXNA2,missense_variant,p.Gly377Cys,ENST00000367033,NM_025179.3;PLXNA2,non_coding_transcript_exon_variant,,ENST00000460870,;							MODERATE	1129/5685	G377C	PLXA2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000356000		CCDS31013.1			1	
PIP5K1C	0	LGGM	GRCh37	19	3646041	3646041	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	4	.	.	ENST00000335312.3:c.1276C>A	p.His426Asn	p.H426N	ENST00000335312	NM_012398.2	426	Cac/Aac	0	1	1	UPI000019C574	0	NA	ENST00000335312		ENSG00000186111	8996		13	3.305		HGNC	p.H426N		PIP5K1C		SNV			1				ENST00000537021	protein_coding	getma.org/?cm=var&var=hg19,19,3646041,G,T&fts=all		PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF26,Pfam_domain:PF01504,Gene3D:1bo1A02,SMART_domains:SM00330,Superfamily_domains:SSF56104		H/N		T	medium	1365/5080		getma.org/?cm=msa&ty=f&p=PI51C_HUMAN&rb=157&re=443&var=H426N	deleterious(0)	Q7LE22_HUMAN			YES	PIP5K1C,missense_variant,p.His426Asn,ENST00000335312,NM_012398.2,NM_001195733.1;PIP5K1C,missense_variant,p.His426Asn,ENST00000537021,;PIP5K1C,missense_variant,p.His426Asn,ENST00000589578,;PIP5K1C,missense_variant,p.His426Asn,ENST00000539785,;PIP5K1C,non_coding_transcript_exon_variant,,ENST00000592530,;PIP5K1C,downstream_gene_variant,,ENST00000587482,;							MODERATE	1276/2007	H426N	PI51C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000335333		CCDS32872.1			1	
TNN	0	LGGM	GRCh37	1	175086186	175086186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000239462.4:c.2231C>A	p.Ser744Tyr	p.S744Y	ENST00000239462	NM_022093.1	744	tCt/tAt	0	1	1	UPI00001D7DA9	0	getma.org/pdb.php?prot=TENN_HUMAN&from=709&to=788&var=S744Y	ENST00000239462		ENSG00000120332	22942		45	3.425		HGNC	p.S744Y		TNN		SNV							ENST00000239462	protein_coding	getma.org/?cm=var&var=hg19,1,175086186,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,SMART_domains:SM00060,Superfamily_domains:SSF49265		S/Y		A	medium	2344/5008		getma.org/?cm=msa&ty=f&p=TENN_HUMAN&rb=709&re=788&var=S744Y	deleterious(0)				YES	TNN,missense_variant,p.Ser744Tyr,ENST00000239462,NM_022093.1;							MODERATE	2231/3900	S744Y	TENN_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000239462		CCDS30943.1			1	
ADAMTS7	0	LGGM	GRCh37	15	79058450	79058450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	2	4	.	.	ENST00000388820.4:c.3803G>T	p.Trp1268Leu	p.W1268L	ENST00000388820	NM_014272.3	1268	tGg/tTg	0	1	1	UPI00002263B3	0	NA	ENST00000388820		ENSG00000136378	223		6	0.625		HGNC	p.W1268L		ADAMTS7		SNV							ENST00000388820	protein_coding	getma.org/?cm=var&var=hg19,15,79058450,C,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142		W/L		A	neutral	4014/5490		getma.org/?cm=msa&ty=f&p=ATS7_HUMAN&rb=1195&re=1394&var=W1268L	tolerated(0.31)				YES	ADAMTS7,missense_variant,p.Trp1268Leu,ENST00000388820,NM_014272.3;ADAMTS7,downstream_gene_variant,,ENST00000566303,;ADAMTS7,downstream_gene_variant,,ENST00000565793,;ADAMTS7,downstream_gene_variant,,ENST00000568712,;ADAMTS7,upstream_gene_variant,,ENST00000569934,;							MODERATE	3803/5061	W1268L	ATS7_HUMAN			Transcript		benign(0.01)	.	ENSP00000373472		CCDS32303.1			1	
SLC2A12	0	LGGM	GRCh37	6	134350232	134350232	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000275230.5:c.731C>A	p.Ser244Ter	p.S244*	ENST00000275230	NM_145176.2	244	tCa/tAa	0	1	1	UPI000004DB98	0	NA	ENST00000275230		ENSG00000146411	18067		44	0		HGNC	p.S244X		SLC2A12		SNV							ENST00000275230	protein_coding	getma.org/?cm=var&var=hg19,6,134350232,G,T&fts=all		Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF91,Superfamily_domains:SSF103473		S/*		T	NA	887/4468		NA					YES	SLC2A12,stop_gained,p.Ser244Ter,ENST00000275230,NM_145176.2;							HIGH	731/1854	S244*	GTR12_HUMAN			Transcript			.	ENSP00000275230		CCDS5169.1			1	
EBP	0	LGGM	GRCh37	X	48382334	48382334	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000495186.1:c.175G>T	p.Gly59Trp	p.G59W	ENST00000495186	NM_006579.2	59	Ggg/Tgg	0	1	1	UPI000000DB82	0	NA	ENST00000495186		ENSG00000147155	3133		27	2.495		HGNC	p.G59W	rs782558322	EBP		SNV			1				ENST00000414061	protein_coding	getma.org/?cm=var&var=hg19,X,48382334,G,T&fts=all		hmmpanther:PTHR14207:SF0,hmmpanther:PTHR14207,Pfam_domain:PF05241		G/W		T	medium	998/1775	2.08E-05	getma.org/?cm=msa&ty=f&p=EBP_HUMAN&rb=31&re=221&var=G59W	deleterious(0)	C9JJ78_HUMAN,C9J719_HUMAN			YES	EBP,missense_variant,p.Gly59Trp,ENST00000495186,NM_006579.2;EBP,missense_variant,p.Gly59Trp,ENST00000446158,;EBP,missense_variant,p.Gly59Trp,ENST00000414061,;PORCN,downstream_gene_variant,,ENST00000367574,NM_001282167.1;PORCN,downstream_gene_variant,,ENST00000359882,;PORCN,downstream_gene_variant,,ENST00000355961,NM_203473.1;PORCN,downstream_gene_variant,,ENST00000326194,NM_203475.1;PORCN,downstream_gene_variant,,ENST00000355092,NM_203474.1;PORCN,downstream_gene_variant,,ENST00000361988,NM_022825.2;PORCN,downstream_gene_variant,,ENST00000537758,;EBP,non_coding_transcript_exon_variant,,ENST00000276096,;EBP,non_coding_transcript_exon_variant,,ENST00000498425,;EBP,upstream_gene_variant,,ENST00000466461,;PORCN,downstream_gene_variant,,ENST00000491243,;PORCN,downstream_gene_variant,,ENST00000485288,NM_001282167.1;PORCN,downstream_gene_variant,,ENST00000472520,;							MODERATE	175/693	G59W	EBP_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000417052	8.24E-06	CCDS14300.1			1	
OTOF	0	LGGM	GRCh37	2	26688592	26688592	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000272371.2:c.4747C>A	p.Arg1583Ser	p.R1583S	ENST00000272371	NM_194248.2	1583	Cgc/Agc	0	1	1	UPI000013D94D	0	NA	ENST00000272371		ENSG00000115155	8515		16	3.87		HGNC	p.R893S		OTOF		SNV			1				ENST00000402415	protein_coding	getma.org/?cm=var&var=hg19,2,26688592,G,T&fts=all		Gene3D:2.60.40.150,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF32,SMART_domains:SM00239,Superfamily_domains:SSF49562		R/S		T	high	4874/7156		getma.org/?cm=msa&ty=f&p=OTOF_HUMAN&rb=1578&re=1777&var=R1583S	deleterious(0)				YES	OTOF,missense_variant,p.Arg1583Ser,ENST00000272371,NM_194248.2;OTOF,missense_variant,p.Arg1583Ser,ENST00000403946,NM_001287489.1;OTOF,missense_variant,p.Arg893Ser,ENST00000402415,NM_194322.2;OTOF,missense_variant,p.Arg816Ser,ENST00000338581,NM_004802.3;OTOF,missense_variant,p.Arg816Ser,ENST00000339598,NM_194323.2;OTOF,non_coding_transcript_exon_variant,,ENST00000464574,;							MODERATE	4747/5994	R1583S	OTOF_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000272371		CCDS1725.1			1	
NUDT21	0	LGGM	GRCh37	16	56481815	56481815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000300291.5:c.203G>T	p.Arg68Met	p.R68M	ENST00000300291	NM_007006.2	68	aGg/aTg	0	1	1	UPI0000073E79	0	getma.org/pdb.php?prot=CPSF5_HUMAN&from=35&to=222&var=R68M	ENST00000300291		ENSG00000167005	13870		43	2.44		HGNC	p.R2M		NUDT21		SNV							ENST00000566340	protein_coding	getma.org/?cm=var&var=hg19,16,56481815,C,A&fts=all		hmmpanther:PTHR13047,Gene3D:3.90.79.10,Pfam_domain:PF13869,PIRSF_domain:PIRSF017888		R/M		A	medium	376/4436		getma.org/?cm=msa&ty=f&p=CPSF5_HUMAN&rb=35&re=222&var=R68M	deleterious(0)	H3BV41_HUMAN,H3BND3_HUMAN			YES	NUDT21,missense_variant,p.Arg68Met,ENST00000300291,NM_007006.2;NUDT21,missense_variant,p.Arg2Met,ENST00000566340,;NUDT21,missense_variant,p.Arg2Met,ENST00000568822,;OGFOD1,upstream_gene_variant,,ENST00000566157,NM_018233.3;OGFOD1,upstream_gene_variant,,ENST00000568397,;OGFOD1,upstream_gene_variant,,ENST00000562150,;OGFOD1,upstream_gene_variant,,ENST00000561646,;OGFOD1,upstream_gene_variant,,ENST00000568172,;NUDT21,non_coding_transcript_exon_variant,,ENST00000567110,;OGFOD1,upstream_gene_variant,,ENST00000336111,;OGFOD1,upstream_gene_variant,,ENST00000563733,;OGFOD1,upstream_gene_variant,,ENST00000569645,;OGFOD1,upstream_gene_variant,,ENST00000565682,;OGFOD1,upstream_gene_variant,,ENST00000569802,;							MODERATE	203/684	R68M	CPSF5_HUMAN			Transcript		possibly_damaging(0.762)	.	ENSP00000300291		CCDS10760.1			1	
POC1A	0	LGGM	GRCh37	3	52109979	52109979	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000296484.2:c.1148G>T	p.Arg383Leu	p.R383L	ENST00000296484	NM_015426.4	383	cGg/cTg	0	1	1	UPI000045711C	0	NA	ENST00000296484		ENSG00000164087	24488		43	2.585		HGNC	p.R335L		POC1A		SNV			1				ENST00000394970	protein_coding	getma.org/?cm=var&var=hg19,3,52109979,C,A&fts=all		Coiled-coils_(Ncoils):Coil		R/L		A	medium	1188/1898		getma.org/?cm=msa&ty=f&p=POC1A_HUMAN&rb=317&re=405&var=R383L	deleterious(0)	B2RDV4_HUMAN			YES	POC1A,missense_variant,p.Arg335Leu,ENST00000394970,NM_001161580.1;POC1A,missense_variant,p.Arg383Leu,ENST00000296484,NM_015426.4;POC1A,missense_variant,p.Arg345Leu,ENST00000474012,NM_001161581.1;							MODERATE	1148/1224	R383L	POC1A_HUMAN			Transcript		possibly_damaging(0.805)	.	ENSP00000296484		CCDS2846.1			1	
PRAM1	0	LGGM	GRCh37	19	8564532	8564532	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000423345.4:c.160G>T	p.Glu54Ter	p.E54*	ENST00000423345		54	Gag/Tag	0	1	1	UPI00001AE786	0	NA	ENST00000423345		ENSG00000133246	30091		19	0		HGNC	p.E54X		PRAM1		SNV							ENST00000423345	protein_coding	getma.org/?cm=var&var=hg19,19,8564532,C,A&fts=all		hmmpanther:PTHR16830:SF6,hmmpanther:PTHR16830		E/*		A	NA	681/2667		NA					YES	PRAM1,stop_gained,p.Glu54Ter,ENST00000423345,;PRAM1,stop_gained,p.Glu54Ter,ENST00000255612,NM_032152.4;PRAM1,stop_gained,p.Glu54Ter,ENST00000600262,;							HIGH	160/2013	D102*	PRAM_HUMAN			Transcript			.	ENSP00000408342		CCDS45954.2			1	
ANAPC1	0	LGGM	GRCh37	2	112588897	112588897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000341068.3:c.2591C>A	p.Pro864His	p.P864H	ENST00000341068	NM_022662.3	864	cCt/cAt	0	1	1	UPI000006EC6E	0	NA	ENST00000341068		ENSG00000153107	19988		40	2.085		HGNC	p.P864H		ANAPC1		SNV							ENST00000341068	protein_coding	getma.org/?cm=var&var=hg19,2,112588897,G,T&fts=all		hmmpanther:PTHR12827		P/H		T	medium	3364/8259		getma.org/?cm=msa&ty=f&p=APC1_HUMAN&rb=828&re=1027&var=P864H	deleterious(0)				YES	ANAPC1,missense_variant,p.Pro864His,ENST00000341068,NM_022662.3;ANAPC1,missense_variant,p.Pro399His,ENST00000427997,;							MODERATE	2591/5835	P864H	APC1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000339109		CCDS2093.1			1	
TBC1D10C	0	LGGM	GRCh37	11	67173071	67173071	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000312390.5:c.366G>T	p.Leu122=	p.L122=	ENST00000312390	NM_198517.3	122	ctG/ctT	0	1		UPI00000746CA	0		ENST00000542590		ENSG00000175463	24702		25			HGNC	p.L122L		TBC1D10C		SNV							ENST00000312390	protein_coding			PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF264,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		L		T		380/1659								TBC1D10C,synonymous_variant,p.=,ENST00000312390,NM_198517.3;TBC1D10C,synonymous_variant,p.=,ENST00000542590,;TBC1D10C,synonymous_variant,p.=,ENST00000526387,NM_001256508.1;PPP1CA,intron_variant,,ENST00000542876,;PPP1CA,intron_variant,,ENST00000546202,;PPP1CA,upstream_gene_variant,,ENST00000376745,NM_001008709.1,NM_002708.3;PPP1CA,upstream_gene_variant,,ENST00000312989,;PPP1CA,upstream_gene_variant,,ENST00000358239,NM_206873.1;PPP1CA,upstream_gene_variant,,ENST00000527663,;PPP1CA,intron_variant,,ENST00000537694,;PPP1CA,upstream_gene_variant,,ENST00000532446,;PPP1CA,upstream_gene_variant,,ENST00000529724,;TBC1D10C,synonymous_variant,p.=,ENST00000529635,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000526474,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000530967,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000529132,;TBC1D10C,non_coding_transcript_exon_variant,,ENST00000533745,;PPP1CA,upstream_gene_variant,,ENST00000526510,;TBC1D10C,upstream_gene_variant,,ENST00000524662,;							LOW	366/1341		TB10C_HUMAN			Transcript			.	ENSP00000443654		CCDS8162.1			1	
IL17RB	0	LGGM	GRCh37	3	53890993	53890993	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	4	.	.	ENST00000288167.3:c.652G>T	p.Gly218Trp	p.G218W	ENST00000288167	NM_018725.3	218	Ggg/Tgg	0	1	1	UPI0000038A0B	0	NA	ENST00000288167		ENSG00000056736	18015		54	2.045		HGNC	p.G202W		IL17RB		SNV							ENST00000494338	protein_coding	getma.org/?cm=var&var=hg19,3,53890993,G,T&fts=all		hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF6		G/W		T	medium	661/2010		getma.org/?cm=msa&ty=f&p=I17RB_HUMAN&rb=201&re=331&var=G218W	deleterious(0.02)				YES	IL17RB,missense_variant,p.Gly218Trp,ENST00000288167,NM_018725.3;IL17RB,missense_variant,p.Gly202Trp,ENST00000494338,;RP11-884K10.7,downstream_gene_variant,,ENST00000607783,;IL17RB,non_coding_transcript_exon_variant,,ENST00000475124,;							MODERATE	652/1509	G218W	I17RB_HUMAN			Transcript		benign(0.125)	.	ENSP00000288167		CCDS2874.1			1	
OTOP3	0	LGGM	GRCh37	17	72943147	72943147	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000328801.4:c.1197G>T	p.Leu399=	p.L399=	ENST00000328801	NM_001272005.1	399	ctG/ctT	0	1	1	UPI000019097F	0		ENST00000328801		ENSG00000182938	19658		11			HGNC	p.L399L		OTOP3		SNV							ENST00000328801	protein_coding			hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF36,Pfam_domain:PF03189		L		T		1197/2363							YES	OTOP3,synonymous_variant,p.=,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,;							LOW	1197/1791		OTOP3_HUMAN			Transcript			.	ENSP00000328090		CCDS11709.1			1	
C1QTNF6	0	LGGM	GRCh37	22	37581306	37581306	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000337843.2:c.241C>A	p.His81Asn	p.H81N	ENST00000337843	NM_031910.3	81	Cac/Aac	0	1	1	UPI0000035BB4	0	NA	ENST00000337843		ENSG00000133466	14343		17	0.895		HGNC	p.H81N		C1QTNF6		SNV							ENST00000397110	protein_coding	getma.org/?cm=var&var=hg19,22,37581306,G,T&fts=all		hmmpanther:PTHR24022:SF72,hmmpanther:PTHR24022		H/N		T	low	317/2934		getma.org/?cm=msa&ty=f&p=C1QT6_HUMAN&rb=1&re=75&var=H62N	tolerated(0.15)				YES	C1QTNF6,missense_variant,p.His81Asn,ENST00000337843,NM_031910.3;C1QTNF6,missense_variant,p.His81Asn,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.His81Asn,ENST00000434784,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,;							MODERATE	241/837	H62N	C1QT6_HUMAN			Transcript		benign(0.048)	.	ENSP00000338812		CCDS13943.1			1	
MSS51	0	LGGM	GRCh37	10	75185703	75185703	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000299432.2:c.935G>T	p.Ser312Ile	p.S312I	ENST00000299432	NM_001024593.1	312	aGc/aTc	0	1	1	UPI00004CA0F2	0	NA	ENST00000299432		ENSG00000166343	21000		19	1.5		HGNC	p.E168D		MSS51		SNV							ENST00000487126	protein_coding	getma.org/?cm=var&var=hg19,10,75185703,C,A&fts=all				S/I		A	low	1001/2421		getma.org/?cm=msa&ty=f&p=ZMY17_HUMAN&rb=150&re=349&var=S312I	tolerated(0.14)				YES	MSS51,missense_variant,p.Ser312Ile,ENST00000299432,NM_001024593.1;MSS51,missense_variant,p.Ser312Ile,ENST00000372912,;AL353731.1,upstream_gene_variant,,ENST00000584907,;MSS51,missense_variant,p.Glu168Asp,ENST00000487126,;RP11-345K20.2,upstream_gene_variant,,ENST00000440913,;							MODERATE	935/1383	S312I	MSS51_HUMAN			Transcript		benign(0.107)	.	ENSP00000299432		CCDS31221.1			1	
FAH	0	LGGM	GRCh37	15	80465403	80465403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000407106.1:c.754G>T	p.Gly252Trp	p.G252W	ENST00000407106		252	Ggg/Tgg	0	1		UPI000012A422	0	getma.org/pdb.php?prot=FAAA_HUMAN&from=123&to=413&var=G252W	ENST00000261755		ENSG00000103876	3579		32	4.005		HGNC	p.G182W		FAH		SNV			1				ENST00000539156	protein_coding	getma.org/?cm=var&var=hg19,15,80465403,G,T&fts=all		hmmpanther:PTHR11820:SF1,hmmpanther:PTHR11820,Gene3D:3.90.850.10,TIGRFAM_domain:TIGR01266,Pfam_domain:PF01557,Superfamily_domains:SSF56529		G/W		T	high	831/1471		getma.org/?cm=msa&ty=f&p=FAAA_HUMAN&rb=123&re=413&var=G252W	deleterious(0)	Q53XA7_HUMAN,H0YLC7_HUMAN				FAH,missense_variant,p.Gly182Trp,ENST00000539156,;FAH,missense_variant,p.Gly252Trp,ENST00000407106,;FAH,missense_variant,p.Gly252Trp,ENST00000561421,NM_000137.2;FAH,missense_variant,p.Gly252Trp,ENST00000261755,;FAH,downstream_gene_variant,,ENST00000558022,;FAH,non_coding_transcript_exon_variant,,ENST00000558627,;FAH,non_coding_transcript_exon_variant,,ENST00000559542,;FAH,upstream_gene_variant,,ENST00000559217,;FAH,upstream_gene_variant,,ENST00000561353,;FAH,downstream_gene_variant,,ENST00000558514,;							MODERATE	754/1260	G252W	FAAA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261755		CCDS10314.1			1	
GRB10	0	LGGM	GRCh37	7	50800007	50800007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000398812.2:c.13G>T	p.Gly5Cys	p.G5C	ENST00000398812	NM_005311.4	5	Ggc/Tgc	0	1	1	UPI000012BA84	0	NA	ENST00000398812		ENSG00000106070	4564		42	1.1		HGNC	p.G5C		GRB10		SNV							ENST00000398812	protein_coding	getma.org/?cm=var&var=hg19,7,50800007,C,A&fts=all		hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF4		G/C		A	low	44/4705		getma.org/?cm=msa&ty=f&p=GRB10_HUMAN&rb=1&re=165&var=G5C	deleterious_low_confidence(0)	Q75MT1_HUMAN,Q75M93_HUMAN			YES	GRB10,missense_variant,p.Gly5Cys,ENST00000398812,NM_005311.4;GRB10,missense_variant,p.Gly5Cys,ENST00000401949,;GRB10,missense_variant,p.Gly5Cys,ENST00000357271,NM_001001549.2;GRB10,5_prime_UTR_variant,,ENST00000439044,;GRB10,intron_variant,,ENST00000403097,;GRB10,intron_variant,,ENST00000335866,NM_001001555.2;GRB10,intron_variant,,ENST00000406641,;GRB10,intron_variant,,ENST00000402497,;GRB10,intron_variant,,ENST00000407526,;GRB10,non_coding_transcript_exon_variant,,ENST00000465602,;							MODERATE	13/1785	G5C	GRB10_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000381793		CCDS43582.1			1	
CARTPT	0	LGGM	GRCh37	5	71015268	71015268	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000296777.4:c.148G>T	p.Glu50Ter	p.E50*	ENST00000296777	NM_004291.3	50	Gag/Tag	0	1	1	UPI00000015E9	0	NA	ENST00000296777		ENSG00000164326	24323		15	0		HGNC	p.E50X		CARTPT		SNV							ENST00000296777	protein_coding	getma.org/?cm=var&var=hg19,5,71015268,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16655,hmmpanther:PTHR16655:SF0,Pfam_domain:PF06373		E/*		T	NA	279/915		NA					YES	CARTPT,stop_gained,p.Glu50Ter,ENST00000296777,NM_004291.3;CARTPT,upstream_gene_variant,,ENST00000513096,;							HIGH	148/351	E50*	CART_HUMAN			Transcript			.	ENSP00000296777		CCDS4011.1			1	
HK3	0	LGGM	GRCh37	5	176311048	176311048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000292432.5:c.1945C>A	p.Arg649Ser	p.R649S	ENST00000292432	NM_002115.2	649	Cgc/Agc	0	1	1	UPI000006E237	0	getma.org/pdb.php?prot=HXK3_HUMAN&from=477&to=675&var=R649S	ENST00000292432		ENSG00000160883	4925		44	2.97		HGNC	p.R30S		HK3		SNV							ENST00000514058	protein_coding	getma.org/?cm=var&var=hg19,5,176311048,G,T&fts=all		hmmpanther:PTHR19443:SF1,hmmpanther:PTHR19443,Pfam_domain:PF00349,Gene3D:3.30.420.40,Superfamily_domains:SSF53067		R/S		T	medium	2037/3066		getma.org/?cm=msa&ty=f&p=HXK3_HUMAN&rb=477&re=675&var=R649S	deleterious(0.01)				YES	HK3,missense_variant,p.Arg649Ser,ENST00000292432,NM_002115.2;HK3,missense_variant,p.Arg30Ser,ENST00000514058,;UNC5A,downstream_gene_variant,,ENST00000329542,NM_133369.2;UNC5A,downstream_gene_variant,,ENST00000261961,;HK3,non_coding_transcript_exon_variant,,ENST00000506834,;HK3,downstream_gene_variant,,ENST00000509717,;HK3,upstream_gene_variant,,ENST00000514666,;							MODERATE	1945/2772	R649S	HXK3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000292432		CCDS4407.1			1	
CROT	0	LGGM	GRCh37	7	87011405	87011405	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	4	.	.	ENST00000419147.2:c.1162C>A	p.Arg388=	p.R388=	ENST00000419147	NM_001143935.1	388	Cga/Aga	0	1		UPI00000746E9	0		ENST00000331536		ENSG00000005469	2366		86			HGNC	p.R360R		CROT		SNV							ENST00000442291	protein_coding			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF8,Pfam_domain:PF00755,Superfamily_domains:SSF52777		R		A		1263/3175				B4DT97_HUMAN				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,,ENST00000479014,;							LOW	1078/1839		OCTC_HUMAN			Transcript			.	ENSP00000331981		CCDS5604.1			1	
JAG1	0	LGGM	GRCh37	20	10629710	10629710	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000254958.5:c.1394G>T	p.Arg465Leu	p.R465L	ENST00000254958	NM_000214.2	465	cGg/cTg	0	1	1	UPI00000498B5	0	getma.org/pdb.php?prot=JAG1_HUMAN&from=447&to=483&var=R465L	ENST00000254958		ENSG00000101384	6188		47	-0.02		HGNC	p.R465L		JAG1		SNV			1				ENST00000254958	protein_coding	getma.org/?cm=var&var=hg19,20,10629710,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF212,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		R/L		A	neutral	1910/5987		getma.org/?cm=msa&ty=f&p=JAG1_HUMAN&rb=447&re=483&var=R465L	deleterious(0.02)	B7U6M8_HUMAN,B4DYR1_HUMAN			YES	JAG1,missense_variant,p.Arg465Leu,ENST00000254958,NM_000214.2;JAG1,missense_variant,p.Arg306Leu,ENST00000423891,;JAG1,upstream_gene_variant,,ENST00000488480,;							MODERATE	1394/3657	R465L	JAG1_HUMAN			Transcript		benign(0.087)	.	ENSP00000254958		CCDS13112.1			1	
MON1A	0	LGGM	GRCh37	3	49948965	49948965	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	5	4	.	.	ENST00000296473.3:c.898C>A	p.His300Asn	p.H300N	ENST00000296473	NM_032355.3	300	Cat/Aat	0	1	1	UPI0000EE2989	0	NA	ENST00000296473		ENSG00000164077	28207		9	0.77		HGNC	p.H211N		MON1A		SNV							ENST00000417270	protein_coding	getma.org/?cm=var&var=hg19,3,49948965,G,T&fts=all		Pfam_domain:PF03164,hmmpanther:PTHR13027,hmmpanther:PTHR13027:SF14		H/N		T	neutral	1157/2363		getma.org/?cm=msa&ty=f&p=MON1A_HUMAN&rb=145&re=555&var=H203N	tolerated(0.17)				YES	MON1A,missense_variant,p.His211Asn,ENST00000417270,;MON1A,missense_variant,p.His300Asn,ENST00000296473,NM_032355.3;MON1A,intron_variant,,ENST00000455683,NM_001142501.1;CTD-2330K9.3,intron_variant,,ENST00000419183,;MON1A,non_coding_transcript_exon_variant,,ENST00000484985,;MON1A,downstream_gene_variant,,ENST00000483022,;MON1A,downstream_gene_variant,,ENST00000493206,;MON1A,intron_variant,,ENST00000486107,;MON1A,downstream_gene_variant,,ENST00000473451,;							MODERATE	898/1959	H203N				Transcript		possibly_damaging(0.736)	.	ENSP00000296473		CCDS2808.2			1	
CIT	0	LGGM	GRCh37	12	120241061	120241061	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000392521.2:c.1244C>A	p.Pro415Gln	p.P415Q	ENST00000392521	NM_001206999.1	415	cCg/cAg	0	1		UPI00001908FD	0	getma.org/pdb.php?prot=CTRO_HUMAN&from=378&to=424&var=P415Q	ENST00000261833		ENSG00000122966	1985		45	2.97		HGNC	p.P415Q		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120241061,G,T&fts=all		PROSITE_profiles:PS51285,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Pfam_domain:PF00433,PIRSF_domain:PIRSF038145,SMART_domains:SM00133		P/Q		T	medium	1297/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=378&re=424&var=P415Q	deleterious(0)					CIT,missense_variant,p.Pro415Gln,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Pro415Gln,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Pro43Gln,ENST00000392520,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000539413,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000488203,;							MODERATE	1244/6084	P415Q	CTRO_HUMAN			Transcript		possibly_damaging(0.615)	.	ENSP00000261833		CCDS9192.1			1	
CPNE1	0	LGGM	GRCh37	20	34219925	34219925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000317677.5:c.494C>A	p.Pro165Gln	p.P165Q	ENST00000317677	NM_003915.5	165	cCa/cAa	0	1		UPI0000049386	0	getma.org/pdb.php?prot=CPNE1_HUMAN&from=140&to=228&var=P160Q	ENST00000352393		ENSG00000214078	2314		12	4.835		HGNC	p.P136Q		CPNE1		SNV							ENST00000416778	protein_coding	getma.org/?cm=var&var=hg19,20,34219925,G,T&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF2,SMART_domains:SM00239,Superfamily_domains:SSF49562		P/Q		T	high	802/2147		getma.org/?cm=msa&ty=f&p=CPNE1_HUMAN&rb=140&re=228&var=P160Q	deleterious(0.02)	Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN				CPNE1,missense_variant,p.Pro160Gln,ENST00000317619,;CPNE1,missense_variant,p.Pro160Gln,ENST00000352393,;CPNE1,missense_variant,p.Pro160Gln,ENST00000397446,;CPNE1,missense_variant,p.Pro160Gln,ENST00000397445,NM_152927.2,NM_152928.2;CPNE1,missense_variant,p.Pro160Gln,ENST00000397443,NM_001198863.1,NM_152926.2,NM_152925.2;CPNE1,missense_variant,p.Pro165Gln,ENST00000317677,NM_003915.5;CPNE1,missense_variant,p.Pro160Gln,ENST00000437340,;CPNE1,missense_variant,p.Pro160Gln,ENST00000397442,;CPNE1,missense_variant,p.Pro136Gln,ENST00000430570,;CPNE1,missense_variant,p.Pro160Gln,ENST00000414664,;CPNE1,missense_variant,p.Pro136Gln,ENST00000412056,;CPNE1,missense_variant,p.Pro160Gln,ENST00000434795,;CPNE1,missense_variant,p.Pro160Gln,ENST00000420363,;CPNE1,missense_variant,p.Pro160Gln,ENST00000439806,;CPNE1,missense_variant,p.Pro160Gln,ENST00000440240,;CPNE1,missense_variant,p.Pro136Gln,ENST00000416778,;CPNE1,missense_variant,p.Pro136Gln,ENST00000458038,;CPNE1,downstream_gene_variant,,ENST00000437100,;CPNE1,upstream_gene_variant,,ENST00000415920,;CPNE1,downstream_gene_variant,,ENST00000414711,;CPNE1,downstream_gene_variant,,ENST00000435747,;CPNE1,upstream_gene_variant,,ENST00000498814,;CPNE1,upstream_gene_variant,,ENST00000498056,;CPNE1,missense_variant,p.Pro160Gln,ENST00000401607,;CPNE1,3_prime_UTR_variant,,ENST00000439669,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483495,;CPNE1,non_coding_transcript_exon_variant,,ENST00000486021,;RP1-309K20.6,downstream_gene_variant,,ENST00000541176,;CPNE1,upstream_gene_variant,,ENST00000473373,;RP1-309K20.6,downstream_gene_variant,,ENST00000454607,;RP1-309K20.6,downstream_gene_variant,,ENST00000441563,;							MODERATE	479/1614	P160Q	CPNE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336945		CCDS13260.1			1	
STAG3	0	LGGM	GRCh37	7	99799947	99799947	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000426455.1:c.2547G>T	p.Pro849=	p.P849=	ENST00000426455	NM_001282716.1	849	ccG/ccT	0	1		UPI000020F6E0	0		ENST00000317296		ENSG00000066923	11356		36			HGNC	p.P791P		STAG3		SNV							ENST00000394018	protein_coding			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF4		P		T		2701/4198				D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN				STAG3,synonymous_variant,p.=,ENST00000426455,NM_001282716.1;STAG3,synonymous_variant,p.=,ENST00000317296,NM_012447.2,NM_001282717.1;STAG3,synonymous_variant,p.=,ENST00000394018,NM_001282718.1;GATS,3_prime_UTR_variant,,ENST00000436886,NM_178831.6;STAG3,upstream_gene_variant,,ENST00000412190,;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;GATS,non_coding_transcript_exon_variant,,ENST00000543273,;GATS,non_coding_transcript_exon_variant,,ENST00000454084,;GATS,non_coding_transcript_exon_variant,,ENST00000440058,;GATS,non_coding_transcript_exon_variant,,ENST00000414997,;GATS,non_coding_transcript_exon_variant,,ENST00000437485,;STAG3,intron_variant,,ENST00000496157,;STAG3,upstream_gene_variant,,ENST00000451963,;STAG3,downstream_gene_variant,,ENST00000479359,;STAG3,downstream_gene_variant,,ENST00000477469,;STAG3,downstream_gene_variant,,ENST00000476057,;							LOW	2547/3678		STAG3_HUMAN			Transcript			.	ENSP00000319318		CCDS34703.1			1	
HEY2	0	LGGM	GRCh37	6	126080873	126080873	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000368364.3:c.939C>A	p.Ser313=	p.S313=	ENST00000368364	NM_012259.2	313	tcC/tcA	0	1	1	UPI0000037AFE	0		ENST00000368364		ENSG00000135547	4881		26			HGNC	p.S267S		HEY2		SNV							ENST00000368365	protein_coding			hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF79		S		A		1136/2678				Q5TF93_HUMAN,B4E1L3_HUMAN			YES	HEY2,synonymous_variant,p.=,ENST00000368364,NM_012259.2;HEY2,synonymous_variant,p.=,ENST00000368365,;							LOW	939/1014		HEY2_HUMAN			Transcript			.	ENSP00000357348		CCDS5131.1			1	
GIMAP7	0	LGGM	GRCh37	7	150217272	150217272	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000313543.4:c.210C>A	p.Thr70=	p.T70=	ENST00000313543	NM_153236.3	70	acC/acA	0	1	1	UPI0000036B86	0		ENST00000313543		ENSG00000179144	22404		25			HGNC	p.T70T		GIMAP7		SNV							ENST00000313543	protein_coding			Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903:SF53,hmmpanther:PTHR10903,PROSITE_profiles:PS51720		T		A		367/1256							YES	GIMAP7,synonymous_variant,p.=,ENST00000313543,NM_153236.3;							LOW	210/903		GIMA7_HUMAN			Transcript			.	ENSP00000315474		CCDS5903.1			1	
KDM1B	0	LGGM	GRCh37	6	18163113	18163113	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000297792.5:c.263G>T	p.Gly88Val	p.G88V	ENST00000297792		88	gGg/gTg	0	1	1	UPI000023739E	0	NA	ENST00000297792		ENSG00000165097	21577		35	1.845		HGNC	p.G88V	COSM3396639,COSM3396640	KDM1B		SNV						1,1	ENST00000388870	protein_coding	getma.org/?cm=var&var=hg19,6,18163113,G,T&fts=all		hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742		G/V		T	low	440/3811		getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=1&re=136&var=G88V	deleterious(0)	Q08EI0_HUMAN			YES	KDM1B,missense_variant,p.Gly88Val,ENST00000388870,;KDM1B,missense_variant,p.Gly88Val,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Gly88Val,ENST00000297792,;KDM1B,intron_variant,,ENST00000546309,;					1,1		MODERATE	263/1773	G88V	KDM1B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297792		CCDS34343.1			1	
HERC2	0	LGGM	GRCh37	15	28421590	28421590	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000261609.7:c.9670G>T	p.Gly3224Ter	p.G3224*	ENST00000261609	NM_004667.5	3224	Gga/Tga	0	1	1	UPI00004578F7	0	NA	ENST00000261609		ENSG00000128731	4868		27	0		HGNC	p.G3224X		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28421590,C,A&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,Prints_domain:PR00633,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,Superfamily_domains:SSF50985		G/*		A	NA	9779/15337		NA					YES	HERC2,stop_gained,p.Gly3224Ter,ENST00000261609,NM_004667.5;HERC2,upstream_gene_variant,,ENST00000569772,;							HIGH	9670/14505	G3224*	HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
CTIF	0	LGGM	GRCh37	18	46190169	46190169	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000382998.4:c.299G>T	p.Trp100Leu	p.W100L	ENST00000382998	NM_001142397.1	100	tGg/tTg	0	1		UPI00001397BF	0	NA	ENST00000256413		ENSG00000134030	23925		19	1.735		HGNC	p.W100L		CTIF		SNV							ENST00000587752	protein_coding	getma.org/?cm=var&var=hg19,18,46190169,G,T&fts=all		hmmpanther:PTHR23254:SF14,hmmpanther:PTHR23254		W/L		T	low	594/5750		getma.org/?cm=msa&ty=f&p=CTIF_HUMAN&rb=1&re=357&var=W100L	tolerated_low_confidence(0.07)	K7EQS5_HUMAN,K7EPK6_HUMAN,K7EK08_HUMAN				CTIF,missense_variant,p.Trp100Leu,ENST00000256413,NM_014772.2;CTIF,missense_variant,p.Trp100Leu,ENST00000382998,NM_001142397.1;CTIF,missense_variant,p.Trp100Leu,ENST00000591387,;CTIF,missense_variant,p.Trp100Leu,ENST00000587752,;CTIF,missense_variant,p.Trp100Leu,ENST00000588345,;CTIF,missense_variant,p.Trp116Leu,ENST00000591412,;CTIF,non_coding_transcript_exon_variant,,ENST00000589585,;							MODERATE	299/1797	W100L	CTIF_HUMAN			Transcript		benign(0.147)	.	ENSP00000256413		CCDS11935.1			1	
SDR42E1	0	LGGM	GRCh37	16	82033638	82033638	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000328945.5:c.260G>T	p.Arg87Leu	p.R87L	ENST00000328945	NM_145168.2	87	cGg/cTg	0	1	1	UPI000003F552	0	getma.org/pdb.php?prot=D42E1_HUMAN&from=12&to=284&var=R87L	ENST00000328945		ENSG00000184860	29834		44	1.38		HGNC	p.R87L		SDR42E1		SNV							ENST00000328945	protein_coding	getma.org/?cm=var&var=hg19,16,82033638,C,A&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Superfamily_domains:SSF51735		R/L		A	low	388/2805		getma.org/?cm=msa&ty=f&p=D42E1_HUMAN&rb=12&re=284&var=R87L	tolerated(0.25)				YES	SDR42E1,missense_variant,p.Arg87Leu,ENST00000328945,NM_145168.2;SDR42E1,missense_variant,p.Arg84Leu,ENST00000532128,;SDR42E1,non_coding_transcript_exon_variant,,ENST00000534209,;							MODERATE	260/1182	R87L	D42E1_HUMAN			Transcript		benign(0.173)	.	ENSP00000332407		CCDS42205.1			1	
PHLPP2	0	LGGM	GRCh37	16	71710473	71710473	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000568954.1:c.1348C>A	p.Arg450=	p.R450=	ENST00000568954		450	Cga/Aga	0	1	1	UPI0000229F5A	0		ENST00000568954		ENSG00000040199	29149		44			HGNC	p.R450R	rs575871196	PHLPP2		SNV							ENST00000360429	protein_coding			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF16,Low_complexity_(Seg):seg,Superfamily_domains:SSF52058		R		T		1727/8317	1.50E-05						YES	PHLPP2,synonymous_variant,p.=,ENST00000393524,;PHLPP2,synonymous_variant,p.=,ENST00000568954,;PHLPP2,synonymous_variant,p.=,ENST00000356272,NM_015020.2;PHLPP2,synonymous_variant,p.=,ENST00000567016,;PHLPP2,synonymous_variant,p.=,ENST00000360429,;PHLPP2,synonymous_variant,p.=,ENST00000568004,;PHLPP2,downstream_gene_variant,,ENST00000538126,;PHLPP2,downstream_gene_variant,,ENST00000574977,;							LOW	1348/3972		PHLP2_HUMAN			Transcript			.	ENSP00000457991	8.24E-06	CCDS32479.1			1	
HERC3	0	LGGM	GRCh37	4	89576361	89576361	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	4	.	.	ENST00000402738.1:c.814G>C	p.Gly272Arg	p.G272R	ENST00000402738	NM_014606.2	272	Ggg/Cgg	0	1		UPI000012C614	0	getma.org/pdb.php?prot=HERC3_HUMAN&from=260&to=309&var=G272R	ENST00000264345		ENSG00000138641	4876		67	3.985		HGNC	p.G272R		HERC3		SNV							ENST00000407637	protein_coding	getma.org/?cm=var&var=hg19,4,89576361,G,C&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF00415,PROSITE_profiles:PS50012,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF285,Superfamily_domains:SSF50985		G/R		C	high	844/4758		getma.org/?cm=msa&ty=f&p=HERC3_HUMAN&rb=260&re=309&var=G272R	deleterious(0)	Q4W5H5_HUMAN,F5GWU0_HUMAN,D6RAT5_HUMAN,C9JKA7_HUMAN,C9JFL2_HUMAN,C9J8E7_HUMAN,C9J6Z1_HUMAN,B4DK41_HUMAN				HERC3,missense_variant,p.Gly272Arg,ENST00000402738,NM_014606.2,NM_001271602.1;HERC3,missense_variant,p.Gly272Arg,ENST00000264345,;HERC3,missense_variant,p.Gly272Arg,ENST00000407637,;HERC3,upstream_gene_variant,,ENST00000543130,;HERC3,downstream_gene_variant,,ENST00000452979,;HERC3,downstream_gene_variant,,ENST00000431413,;HERC3,upstream_gene_variant,,ENST00000470815,;							MODERATE	814/3153	G272R	HERC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264345		CCDS34028.1			1	
CSPG4	0	LGGM	GRCh37	15	75968114	75968114	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000308508.5:c.6746G>T	p.Arg2249Leu	p.R2249L	ENST00000308508	NM_001897.4	2249	cGc/cTc	0	1	1	UPI00001AEEB6	0	NA	ENST00000308508		ENSG00000173546	2466		20	2.28		HGNC	p.R2249L	rs150766109	CSPG4		SNV	G:0.0002						ENST00000308508	protein_coding	getma.org/?cm=var&var=hg19,15,75968114,C,A&fts=all		hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11		R/L	G:0	A	medium	6839/8290	1.51E-05	getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=395&re=2320&var=R2249L	deleterious(0)				YES	CSPG4,missense_variant,p.Arg2249Leu,ENST00000308508,NM_001897.4;AC105020.1,upstream_gene_variant,,ENST00000435356,;CTD-2026K11.1,upstream_gene_variant,,ENST00000569467,;							MODERATE	6746/6969	R2249L	CSPG4_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000312506	8.24E-06	CCDS10284.1			1	
TG	0	LGGM	GRCh37	8	134125756	134125756	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000220616.4:c.7663C>A	p.Arg2555Ser	p.R2555S	ENST00000220616	NM_003235.4	2555	Cgc/Agc	0	1	1	UPI000013C79F	0	getma.org/pdb.php?prot=THYG_HUMAN&from=2186&to=2718&var=R2555S	ENST00000220616		ENSG00000042832	11764		45	0.265		HGNC	p.R688S		TG		SNV			1				ENST00000519543	protein_coding	getma.org/?cm=var&var=hg19,8,134125756,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142,Superfamily_domains:SSF53474		R/S		A	neutral	7703/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=2186&re=2718&var=R2555S	tolerated(0.44)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Arg2555Ser,ENST00000220616,NM_003235.4;TG,missense_variant,p.Arg2498Ser,ENST00000377869,;TG,missense_variant,p.Arg925Ser,ENST00000542445,;TG,missense_variant,p.Arg1011Ser,ENST00000519178,;TG,missense_variant,p.Arg688Ser,ENST00000519543,;TG,missense_variant,p.Arg4Ser,ENST00000521107,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522809,;TG,downstream_gene_variant,,ENST00000522996,;							MODERATE	7663/8307	R2555S	THYG_HUMAN			Transcript		benign(0.012)	.	ENSP00000220616		CCDS34944.1			1	
RSPH3	0	LGGM	GRCh37	6	159399311	159399311	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000252655.1:c.1353G>T	p.Val451=	p.V451=	ENST00000252655	NM_031924.4	451	gtG/gtT	0	1	1	UPI000013CD78	0		ENST00000252655		ENSG00000130363	21054		40			HGNC	p.V451V		RSPH3		SNV			1				ENST00000252655	protein_coding			hmmpanther:PTHR21648:SF0,hmmpanther:PTHR21648,Pfam_domain:PF06098		V		A		1543/2175							YES	RSPH3,synonymous_variant,p.=,ENST00000367069,;RSPH3,synonymous_variant,p.=,ENST00000252655,NM_031924.4;RSPH3,synonymous_variant,p.=,ENST00000449822,;RSPH3,synonymous_variant,p.=,ENST00000297262,;RSPH3,upstream_gene_variant,,ENST00000607398,;							LOW	1353/1683		RSPH3_HUMAN			Transcript			.	ENSP00000252655		CCDS5260.1			1	
ENAH	0	LGGM	GRCh37	1	225702366	225702366	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000366844.3:c.1150G>T	p.Glu384Ter	p.E384*	ENST00000366844	NM_001008493.1	384	Gaa/Taa	0	1	1	UPI0000203FDB	0	NA	ENST00000366844		ENSG00000154380	18271		45	0		HGNC	p.E631X		ENAH		SNV							ENST00000284563	protein_coding	getma.org/?cm=var&var=hg19,1,225702366,C,A&fts=all		hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF1		E/*		A	NA	1602/13168		NA					YES	ENAH,stop_gained,p.Glu384Ter,ENST00000366844,NM_001008493.1,NM_018212.4;ENAH,stop_gained,p.Glu631Ter,ENST00000284563,;ENAH,stop_gained,p.Glu384Ter,ENST00000366843,;ENAH,downstream_gene_variant,,ENST00000391874,;ENAH,upstream_gene_variant,,ENST00000488523,;ENAH,non_coding_transcript_exon_variant,,ENST00000358675,;ENAH,downstream_gene_variant,,ENST00000497899,;							HIGH	1150/1776	E384*	ENAH_HUMAN			Transcript			.	ENSP00000355809		CCDS31041.1			1	
SHANK2	0	LGGM	GRCh37	11	70348944	70348944	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000338508.4:c.2157G>T	p.Thr719=	p.T719=	ENST00000338508		719	acG/acT	0	1		UPI000198F7E4	0		ENST00000423696		ENSG00000162105	14295		15			HGNC	p.T349T		SHANK2		SNV			1				ENST00000294018	protein_coding			Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17,PROSITE_profiles:PS50106		T		A		1054/7884								SHANK2,synonymous_variant,p.=,ENST00000338508,;SHANK2,synonymous_variant,p.=,ENST00000449833,NM_133266.3;SHANK2,synonymous_variant,p.=,ENST00000423696,;SHANK2,synonymous_variant,p.=,ENST00000409161,;SHANK2,synonymous_variant,p.=,ENST00000424924,;SHANK2,synonymous_variant,p.=,ENST00000294018,;SHANK2,synonymous_variant,p.=,ENST00000409530,;SHANK2,synonymous_variant,p.=,ENST00000412252,;SHANK2,synonymous_variant,p.=,ENST00000449116,;SHANK2,synonymous_variant,p.=,ENST00000357171,;SHANK2,synonymous_variant,p.=,ENST00000426687,;							LOW	1017/4413		SHAN2_HUMAN			Transcript			.	ENSP00000394536					1	
LAMB2	0	LGGM	GRCh37	3	49170237	49170237	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	4	.	.	ENST00000418109.1:c.64C>A	p.Leu22Ile	p.L22I	ENST00000418109	NM_002292.3	22	Cta/Ata	0	1		UPI000013EA62	0	NA	ENST00000305544		ENSG00000172037	6487		10	0		HGNC	p.L22I		LAMB2		SNV			1				ENST00000418109	protein_coding	getma.org/?cm=var&var=hg19,3,49170237,G,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/I		T	neutral	217/5643		getma.org/?cm=msa&ty=f&p=LAMB2_HUMAN&rb=1&re=46&var=L22I	tolerated(0.12)	F5H520_HUMAN				LAMB2,missense_variant,p.Leu22Ile,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Leu22Ile,ENST00000305544,;LAMB2,intron_variant,,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000488638,;							MODERATE	64/5397	L22I	LAMB2_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000307156		CCDS2789.1			1	
ATP8B2	0	LGGM	GRCh37	1	154319226	154319226	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000368489.3:c.3254G>T	p.Arg1085Leu	p.R1085L	ENST00000368489	NM_020452.3	1085	cGg/cTg	0	1	1	UPI00001B92AB	0	NA	ENST00000368489		ENSG00000143515	13534		48	1.04		HGNC	p.R1085L		ATP8B2		SNV							ENST00000368489	protein_coding	getma.org/?cm=var&var=hg19,1,154319226,G,T&fts=all		hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		R/L		T	low	3254/5861		getma.org/?cm=msa&ty=f&p=AT8B2_HUMAN&rb=1043&re=1209&var=R1071L	tolerated(0.23)	Q6P3T1_HUMAN			YES	ATP8B2,missense_variant,p.Arg1085Leu,ENST00000368489,NM_020452.3;ATP8B2,downstream_gene_variant,,ENST00000341822,;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,non_coding_transcript_exon_variant,,ENST00000505882,;							MODERATE	3254/3672	R1071L	AT8B2_HUMAN			Transcript		possibly_damaging(0.614)	.	ENSP00000357475		CCDS1066.1			1	
CLASP2	0	LGGM	GRCh37	3	33644515	33644515	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000468888.2:c.1856C>A	p.Ala619Asp	p.A619D	ENST00000468888		619	gCt/gAt	0	1	1	UPI0001B7944B	0	NA	ENST00000468888		ENSG00000163539	17078		34	1.1		HGNC	p.A618D		CLASP2		SNV							ENST00000399362	protein_coding	getma.org/?cm=var&var=hg19,3,33644515,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567		A/D		T	low	1903/6978		getma.org/?cm=msa&ty=f&p=CLAP2_HUMAN&rb=306&re=505&var=A385D	tolerated(0.21)	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN			YES	CLASP2,missense_variant,p.Ala618Asp,ENST00000399362,NM_015097.2;CLASP2,missense_variant,p.Ala107Asp,ENST00000307312,;CLASP2,missense_variant,p.Ala618Asp,ENST00000359576,;CLASP2,missense_variant,p.Ala619Asp,ENST00000468888,;CLASP2,missense_variant,p.Ala370Asp,ENST00000539981,;CLASP2,missense_variant,p.Ala385Asp,ENST00000480013,NM_001207044.1;CLASP2,missense_variant,p.Ala385Asp,ENST00000461133,;CLASP2,missense_variant,p.Ala395Asp,ENST00000333778,;CLASP2,missense_variant,p.Ala391Asp,ENST00000487200,;CLASP2,missense_variant,p.Ala391Asp,ENST00000313350,;							MODERATE	1856/4545	A385D				Transcript		possibly_damaging(0.575)	.	ENSP00000419974					1	
ANKFY1	0	LGGM	GRCh37	17	4087143	4087143	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000570535.1:c.1888C>A	p.Arg630=	p.R630=	ENST00000570535	NM_001257999.1	630	Cga/Aga	0	1		UPI0000038C5D	0		ENST00000341657		ENSG00000185722	20763		31			HGNC	p.R40R		ANKFY1		SNV							ENST00000574736	protein_coding			Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24189,PROSITE_profiles:PS50297		R		T		1798/7418				I3L1Z9_HUMAN				ANKFY1,synonymous_variant,p.=,ENST00000341657,NM_016376.3;ANKFY1,synonymous_variant,p.=,ENST00000570535,NM_001257999.1;ANKFY1,synonymous_variant,p.=,ENST00000574367,;ANKFY1,synonymous_variant,p.=,ENST00000574736,;CYB5D2,intron_variant,,ENST00000573984,;Y_RNA,upstream_gene_variant,,ENST00000516003,;ANKFY1,downstream_gene_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,upstream_gene_variant,,ENST00000572564,;ANKFY1,downstream_gene_variant,,ENST00000575509,;ANKFY1,upstream_gene_variant,,ENST00000571547,;							LOW	1762/3510		ANFY1_HUMAN			Transcript			.	ENSP00000343362					1	
GRM1	0	LGGM	GRCh37	6	146625803	146625803	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000361719.2:c.1007G>T	p.Gly336Val	p.G336V	ENST00000361719		336	gGg/gTg	0	1		UPI000013DCFD	0	getma.org/pdb.php?prot=GRM1_HUMAN&from=77&to=485&var=G336V	ENST00000282753		ENSG00000152822	4593		12	3.415		HGNC	p.G336V		GRM1		SNV			1				ENST00000282753	protein_coding	getma.org/?cm=var&var=hg19,6,146625803,G,T&fts=all		hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822,Prints_domain:PR00593		G/V		T	medium	1242/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=77&re=485&var=G336V	deleterious(0.01)					GRM1,missense_variant,p.Gly336Val,ENST00000392299,;GRM1,missense_variant,p.Gly336Val,ENST00000361719,;GRM1,missense_variant,p.Gly336Val,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Gly336Val,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Gly336Val,ENST00000355289,;GRM1,missense_variant,p.Gly336Val,ENST00000507907,;							MODERATE	1007/3585	G336V	GRM1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000282753		CCDS5209.1			1	
DENND2A	0	LGGM	GRCh37	7	140302141	140302141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000275884.6:c.57G>T	p.Arg19Ser	p.R19S	ENST00000275884		19	agG/agT	0	1	1	UPI00001C1E63	0	NA	ENST00000275884		ENSG00000146966	22212		18	1.1		HGNC	p.R19S	COSM1548512	DENND2A		SNV						1	ENST00000491728	protein_coding	getma.org/?cm=var&var=hg19,7,140302141,C,A&fts=all				R/S		A	low	475/3735		getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=1&re=200&var=R19S	tolerated_low_confidence(0.1)	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN			YES	DENND2A,missense_variant,p.Arg19Ser,ENST00000275884,;DENND2A,missense_variant,p.Arg19Ser,ENST00000492720,;DENND2A,missense_variant,p.Arg19Ser,ENST00000496613,;DENND2A,missense_variant,p.Arg19Ser,ENST00000537639,NM_015689.3;DENND2A,missense_variant,p.Arg19Ser,ENST00000491728,;DENND2A,missense_variant,p.Arg19Ser,ENST00000477488,;DENND2A,missense_variant,p.Arg19Ser,ENST00000489552,;DENND2A,intron_variant,,ENST00000475837,;DENND2A,missense_variant,p.Arg19Ser,ENST00000461883,;					1		MODERATE	57/3030	R19S	DEN2A_HUMAN			Transcript		benign(0.034)	.	ENSP00000275884		CCDS43659.1			1	
ARSJ	0	LGGM	GRCh37	4	114823987	114823987	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000315366.7:c.1243C>A	p.Arg415=	p.R415=	ENST00000315366	NM_024590.3	415	Cga/Aga	0	1	1	UPI000003FD84	0		ENST00000315366		ENSG00000180801	26286		48			HGNC	p.R415R		ARSJ		SNV							ENST00000541197	protein_coding			Gene3D:3.30.1120.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF69,Superfamily_domains:SSF53649		R		T		2110/4657				D6RGC1_HUMAN			YES	ARSJ,synonymous_variant,p.=,ENST00000315366,NM_024590.3;ARSJ,synonymous_variant,p.=,ENST00000541197,;ARSJ,3_prime_UTR_variant,,ENST00000509829,;							LOW	1243/1800		ARSJ_HUMAN			Transcript			.	ENSP00000320219		CCDS43264.1			1	
PLK1	0	LGGM	GRCh37	16	23700017	23700017	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	4	.	.	ENST00000300093.4:c.1221C>A	p.Pro407=	p.P407=	ENST00000300093	NM_005030.3	407	ccC/ccA	0	1	1	UPI0000131BF9	0		ENST00000300093		ENSG00000166851	9077		30			HGNC	p.P407P		PLK1		SNV							ENST00000300093	protein_coding			hmmpanther:PTHR24345,Gene3D:3.30.1120.30,Superfamily_domains:SSF82615		P		A		1332/2227				I3L309_HUMAN,I3L2H5_HUMAN,D3DWF3_HUMAN,B4E083_HUMAN			YES	PLK1,synonymous_variant,p.=,ENST00000300093,NM_005030.3;ERN2,downstream_gene_variant,,ENST00000256797,NM_033266.3;ERN2,downstream_gene_variant,,ENST00000457008,;ERN2,downstream_gene_variant,,ENST00000562458,;PLK1,downstream_gene_variant,,ENST00000567897,;PLK1,downstream_gene_variant,,ENST00000568568,;CTD-2196E14.5,upstream_gene_variant,,ENST00000566143,;PLK1,non_coding_transcript_exon_variant,,ENST00000562272,;PLK1,non_coding_transcript_exon_variant,,ENST00000564794,;PLK1,non_coding_transcript_exon_variant,,ENST00000564947,;PLK1,downstream_gene_variant,,ENST00000562407,;							LOW	1221/1812		PLK1_HUMAN			Transcript			.	ENSP00000300093		CCDS10616.1			1	
SHCBP1	0	LGGM	GRCh37	16	46637969	46637969	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	4	.	.	ENST00000303383.3:c.1010C>A	p.Ser337Tyr	p.S337Y	ENST00000303383	NM_024745.4	337	tCc/tAc	0	1	1	UPI000013E898	0	NA	ENST00000303383		ENSG00000171241	29547		44	1.1		HGNC	p.S337Y		SHCBP1		SNV							ENST00000303383	protein_coding	getma.org/?cm=var&var=hg19,16,46637969,G,T&fts=all		hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF6		S/Y		T	low	1277/3461		getma.org/?cm=msa&ty=f&p=SHCBP_HUMAN&rb=201&re=400&var=S337Y	deleterious(0.01)				YES	SHCBP1,missense_variant,p.Ser337Tyr,ENST00000303383,NM_024745.4;SHCBP1,missense_variant,p.Ser77Tyr,ENST00000569702,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000566016,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000565887,;SHCBP1,upstream_gene_variant,,ENST00000563219,;							MODERATE	1010/2019	S337Y	SHCBP_HUMAN			Transcript		possibly_damaging(0.547)	.	ENSP00000306473		CCDS10720.1			1	
EPRS	0	LGGM	GRCh37	1	220203798	220203798	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000366923.3:c.553G>T	p.Gly185Trp	p.G185W	ENST00000366923	NM_004446.2	185	Ggg/Tgg	0	1	1	UPI0000205E8C	0	NA	ENST00000366923		ENSG00000136628	3418		43	2.725		HGNC	p.G185W		EPRS		SNV							ENST00000366923	protein_coding	getma.org/?cm=var&var=hg19,1,220203798,C,A&fts=all		TIGRFAM_domain:TIGR00463,hmmpanther:PTHR10119:SF15,hmmpanther:PTHR10119		G/W		A	medium	823/5014		getma.org/?cm=msa&ty=f&p=SYEP_HUMAN&rb=1&re=196&var=G185W	deleterious(0)				YES	EPRS,missense_variant,p.Gly185Trp,ENST00000366923,NM_004446.2;EPRS,missense_variant,p.Gly185Trp,ENST00000609181,;EPRS,intron_variant,,ENST00000477030,;							MODERATE	553/4539	G185W	SYEP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355890		CCDS31027.1			1	
CRYGA	0	LGGM	GRCh37	2	209027955	209027955	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000304502.4:c.225G>T	p.Ser75=	p.S75=	ENST00000304502	NM_014617.3	75	tcG/tcT	0	1	1	UPI000049DF32	0		ENST00000304502		ENSG00000168582	2408	8.64E-05	47			HGNC	p.S75S	rs137892904	CRYGA		SNV	T:0.0005						ENST00000304502	protein_coding			PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF28,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695		S	T:0	A		245/609							YES	CRYGA,synonymous_variant,p.=,ENST00000304502,NM_014617.3;C2orf80,downstream_gene_variant,,ENST00000341287,NM_001099334.2;C2orf80,downstream_gene_variant,,ENST00000451346,;C2orf80,downstream_gene_variant,,ENST00000451342,;C2orf80,downstream_gene_variant,,ENST00000428015,;C2orf80,downstream_gene_variant,,ENST00000453017,;							LOW	225/525		CRGA_HUMAN			Transcript			.	ENSP00000302105	8.24E-06	CCDS33367.1			1	
ZNF227	0	LGGM	GRCh37	19	44740044	44740044	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000313040.7:c.1461G>T	p.Thr487=	p.T487=	ENST00000313040	NM_182490.1	487	acG/acT	0	1	1	UPI000000DC17	0		ENST00000313040		ENSG00000131115	13020		48			HGNC	p.T436T		ZNF227		SNV							ENST00000391961	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF121,Superfamily_domains:SSF57667		T		T		1666/3043				Q86WM4_HUMAN,Q658S5_HUMAN,K7EIL7_HUMAN,B7Z5P9_HUMAN			YES	ZNF227,synonymous_variant,p.=,ENST00000313040,NM_182490.1;ZNF227,synonymous_variant,p.=,ENST00000589005,;ZNF227,synonymous_variant,p.=,ENST00000391961,;ZNF235,downstream_gene_variant,,ENST00000589799,;ZNF227,downstream_gene_variant,,ENST00000588394,;ZNF227,downstream_gene_variant,,ENST00000588219,;ZNF227,downstream_gene_variant,,ENST00000586228,;ZNF227,downstream_gene_variant,,ENST00000589707,;ZNF235,intron_variant,,ENST00000592844,;							LOW	1461/2400		ZN227_HUMAN			Transcript			.	ENSP00000321049		CCDS12636.1			1	
SNAPC4	0	LGGM	GRCh37	9	139290189	139290189	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	4	.	.	ENST00000298532.2:c.211G>T	p.Glu71Ter	p.E71*	ENST00000298532	NM_003086.2	71	Gag/Tag	0	1	1	UPI000013E4EC	0	NA	ENST00000298532		ENSG00000165684	11137		45	0		HGNC	p.E71X		SNAPC4		SNV							ENST00000298532	protein_coding	getma.org/?cm=var&var=hg19,9,139290189,C,A&fts=all				E/*		A	NA	580/5010		NA					YES	SNAPC4,stop_gained,p.Glu71Ter,ENST00000298532,NM_003086.2;							HIGH	211/4410	E71*	SNPC4_HUMAN			Transcript			.	ENSP00000298532		CCDS6998.1			1	
SIK3	0	LGGM	GRCh37	11	116728578	116728578	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000292055.4:c.3285C>A	p.Pro1095=	p.P1095=	ENST00000292055	NM_025164.3	1095	ccC/ccA	0	1	1	UPI00001FA400	0		ENST00000292055		ENSG00000160584	29165		37			HGNC	p.P1095P		SIK3		SNV							ENST00000292055	protein_coding			hmmpanther:PTHR22971		P		T		3321/6067							YES	SIK3,synonymous_variant,p.=,ENST00000445177,;SIK3,synonymous_variant,p.=,ENST00000375300,;SIK3,synonymous_variant,p.=,ENST00000292055,NM_025164.3;SIK3,synonymous_variant,p.=,ENST00000375288,;SIK3,synonymous_variant,p.=,ENST00000446921,NM_001281749.1;SIK3,synonymous_variant,p.=,ENST00000434315,NM_001281748.1;SIK3,synonymous_variant,p.=,ENST00000542607,;APOA1-AS,downstream_gene_variant,,ENST00000444200,;SIK3,non_coding_transcript_exon_variant,,ENST00000488337,;SIK3,3_prime_UTR_variant,,ENST00000415541,;SIK3,non_coding_transcript_exon_variant,,ENST00000465421,;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,;							LOW	3285/3792		SIK3_HUMAN			Transcript			.	ENSP00000292055		CCDS8379.1			1	
LGMN	0	LGGM	GRCh37	14	93176053	93176053	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000393218.2:c.984C>A	p.Ser328=	p.S328=	ENST00000393218	NM_001008530.2	328	tcC/tcA	0	1		UPI000000CC65	0		ENST00000334869		ENSG00000100600	9472		20			HGNC	p.S328S		LGMN		SNV							ENST00000555699	protein_coding			PIRSF_domain:PIRSF019663,PIRSF_domain:PIRSF500139,hmmpanther:PTHR12000,hmmpanther:PTHR12000:SF3		S		T		1227/2055				Q96CY7_HUMAN,Q53XC6_HUMAN,G3V5B2_HUMAN,G3V4P5_HUMAN,G3V4H2_HUMAN				LGMN,synonymous_variant,p.=,ENST00000393218,NM_001008530.2;LGMN,synonymous_variant,p.=,ENST00000334869,NM_005606.6;LGMN,synonymous_variant,p.=,ENST00000557434,;LGMN,synonymous_variant,p.=,ENST00000555699,;LGMN,intron_variant,,ENST00000555169,;LGMN,downstream_gene_variant,,ENST00000553802,;LGMN,3_prime_UTR_variant,,ENST00000557609,;LGMN,non_coding_transcript_exon_variant,,ENST00000557725,;LGMN,downstream_gene_variant,,ENST00000556097,;LGMN,downstream_gene_variant,,ENST00000554189,;LGMN,upstream_gene_variant,,ENST00000556790,;							LOW	984/1302		LGMN_HUMAN			Transcript			.	ENSP00000334052		CCDS9904.1			1	
CBFA2T3	0	LGGM	GRCh37	16	88947161	88947161	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	1	4	.	.	ENST00000268679.4:c.1438G>T	p.Gly480Cys	p.G480C	ENST00000268679	NM_005187.5	480	Ggc/Tgc	0	1	1	UPI0000167F93	0	getma.org/pdb.php?prot=MTG16_HUMAN&from=446&to=555&var=G480C	ENST00000268679		ENSG00000129993	1537		5	2.535		HGNC	p.G480C		CBFA2T3		SNV			1				ENST00000268679	protein_coding	getma.org/?cm=var&var=hg19,16,88947161,C,A&fts=all		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6		G/C		A	medium	1835/4477		getma.org/?cm=msa&ty=f&p=MTG16_HUMAN&rb=446&re=555&var=G480C	deleterious(0)	H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN			YES	CBFA2T3,missense_variant,p.Gly480Cys,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Gly394Cys,ENST00000360302,;CBFA2T3,missense_variant,p.Gly442Cys,ENST00000436887,;CBFA2T3,missense_variant,p.Gly404Cys,ENST00000448839,;CBFA2T3,missense_variant,p.Gly394Cys,ENST00000327483,NM_175931.2;CBFA2T3,downstream_gene_variant,,ENST00000569464,;RP11-830F9.5,upstream_gene_variant,,ENST00000565053,;RP11-830F9.5,upstream_gene_variant,,ENST00000569249,;RP11-830F9.5,upstream_gene_variant,,ENST00000562574,;RP11-830F9.5,upstream_gene_variant,,ENST00000562405,;CBFA2T3,3_prime_UTR_variant,,ENST00000566868,;CBFA2T3,non_coding_transcript_exon_variant,,ENST00000563856,;CBFA2T3,upstream_gene_variant,,ENST00000563920,;							MODERATE	1438/1962	G480C	MTG16_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000268679		CCDS10972.1			1	
FLCN	0	LGGM	GRCh37	17	17129607	17129607	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000285071.4:c.279G>T	p.Pro93=	p.P93=	ENST00000285071	NM_144997.5	93	ccG/ccT	0	1	1	UPI0000071D7A	0		ENST00000285071		ENSG00000154803	27310		36			HGNC	p.P40P		FLCN		SNV			1				ENST00000417064	protein_coding			hmmpanther:PTHR31441		P		A		734/3638				J3QQZ7_HUMAN,C9J4C4_HUMAN			YES	FLCN,synonymous_variant,p.=,ENST00000285071,NM_144997.5;FLCN,synonymous_variant,p.=,ENST00000389169,NM_144606.5;FLCN,synonymous_variant,p.=,ENST00000417064,;FLCN,downstream_gene_variant,,ENST00000461699,;FLCN,non_coding_transcript_exon_variant,,ENST00000389168,;FLCN,non_coding_transcript_exon_variant,,ENST00000389171,;RP11-45M22.4,intron_variant,,ENST00000427497,;FLCN,upstream_gene_variant,,ENST00000466317,;FLCN,upstream_gene_variant,,ENST00000480316,;							LOW	279/1740		FLCN_HUMAN			Transcript			.	ENSP00000285071		CCDS32579.1			1	
QRICH1	0	LGGM	GRCh37	3	49069648	49069648	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000395443.2:c.2106C>A	p.Pro702=	p.P702=	ENST00000395443	NM_198880.1	702	ccC/ccA	0	1		UPI0000209C85	0		ENST00000357496		ENSG00000198218	24713		22			HGNC	p.P702P		QRICH1		SNV							ENST00000424300	protein_coding			Pfam_domain:PF12012,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25		P		T		2338/3083				Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN				QRICH1,synonymous_variant,p.=,ENST00000395443,NM_198880.1;QRICH1,synonymous_variant,p.=,ENST00000357496,NM_017730.2;QRICH1,synonymous_variant,p.=,ENST00000424300,;IMPDH2,upstream_gene_variant,,ENST00000326739,NM_000884.2;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;RP13-131K19.6,downstream_gene_variant,,ENST00000607245,;QRICH1,non_coding_transcript_exon_variant,,ENST00000477021,;QRICH1,downstream_gene_variant,,ENST00000479449,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498392,;QRICH1,non_coding_transcript_exon_variant,,ENST00000489642,;IMPDH2,upstream_gene_variant,,ENST00000462980,;IMPDH2,upstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000496837,;QRICH1,downstream_gene_variant,,ENST00000498440,;QRICH1,downstream_gene_variant,,ENST00000469910,;							LOW	2106/2331		QRIC1_HUMAN			Transcript			.	ENSP00000350094		CCDS2787.1			1	
NOTCH2	0	LGGM	GRCh37	1	120462050	120462050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000256646.2:c.5666G>T	p.Arg1889Leu	p.R1889L	ENST00000256646	NM_024408.3	1889	cGg/cTg	0	1	1	UPI000013CF1D	0	getma.org/pdb.php?prot=NOTC2_HUMAN&from=1850&to=1940&var=R1889L	ENST00000256646		ENSG00000134250	7882		18	1.285		HGNC	p.R1889L		NOTCH2		SNV			1				ENST00000256646	protein_coding	getma.org/?cm=var&var=hg19,1,120462050,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4,SMART_domains:SM00248,Superfamily_domains:SSF48403		R/L		A	low	5886/11389		getma.org/?cm=msa&ty=f&p=NOTC2_HUMAN&rb=1850&re=1940&var=R1889L	deleterious(0.01)	Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,missense_variant,p.Arg1889Leu,ENST00000256646,NM_024408.3;NOTCH2,downstream_gene_variant,,ENST00000493703,;							MODERATE	5666/7416	R1889L	NOTC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000256646		CCDS908.1			1	
KLHL22	0	LGGM	GRCh37	22	20819222	20819222	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000328879.4:c.1035G>T	p.Ala345=	p.A345=	ENST00000328879	NM_032775.3	345	gcG/gcT	0	1	1	UPI0000072F37	0		ENST00000328879		ENSG00000099910	25888		25			HGNC	p.A345A	COSM579763	KLHL22		SNV						1	ENST00000328879	protein_coding			hmmpanther:PTHR24412:SF180,hmmpanther:PTHR24412,Pfam_domain:PF13964,Gene3D:1zgkA00,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		A		A		1192/2616				C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN			YES	KLHL22,synonymous_variant,p.=,ENST00000328879,NM_032775.3;KLHL22,synonymous_variant,p.=,ENST00000440659,;KLHL22,downstream_gene_variant,,ENST00000444967,;KLHL22,downstream_gene_variant,,ENST00000443285,;KLHL22,downstream_gene_variant,,ENST00000458248,;KLHL22,downstream_gene_variant,,ENST00000451553,;KLHL22,downstream_gene_variant,,ENST00000431430,;KLHL22,intron_variant,,ENST00000487090,;KLHL22,downstream_gene_variant,,ENST00000494929,;KLHL22,non_coding_transcript_exon_variant,,ENST00000479601,;					1		LOW	1035/1905		KLH22_HUMAN			Transcript			.	ENSP00000331682		CCDS13780.1			1	
NUDT5	0	LGGM	GRCh37	10	12212901	12212901	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000491614.1:c.494G>T	p.Gly165Val	p.G165V	ENST00000491614		165	gGa/gTa	0	1	1	UPI00001308E1	0	getma.org/pdb.php?prot=NUDT5_HUMAN&from=58&to=192&var=G165V	ENST00000491614		ENSG00000165609	8052		24	2.945		HGNC	p.G165V	COSM71898	NUDT5		SNV						1	ENST00000378940	protein_coding	getma.org/?cm=var&var=hg19,10,12212901,C,A&fts=all		Superfamily_domains:SSF55811,Gene3D:3.90.79.10,Pfam_domain:PF00293,hmmpanther:PTHR11839,hmmpanther:PTHR11839:SF1,PROSITE_profiles:PS51462		G/V		A	medium	890/3433		getma.org/?cm=msa&ty=f&p=NUDT5_HUMAN&rb=58&re=192&var=G165V	deleterious(0)				YES	NUDT5,missense_variant,p.Gly165Val,ENST00000491614,;NUDT5,missense_variant,p.Gly165Val,ENST00000378927,;NUDT5,missense_variant,p.Gly165Val,ENST00000537776,NM_014142.2;NUDT5,missense_variant,p.Gly165Val,ENST00000378940,;NUDT5,missense_variant,p.Gly178Val,ENST00000378937,;SEC61A2,downstream_gene_variant,,ENST00000304267,NM_001142627.1;NUDT5,splice_region_variant,,ENST00000378952,;SEC61A2,downstream_gene_variant,,ENST00000495368,;NUDT5,downstream_gene_variant,,ENST00000498825,;NUDT5,missense_variant,p.Gly122Val,ENST00000476462,;SEC61A2,downstream_gene_variant,,ENST00000475268,;					1		MODERATE	494/660	G165V	NUDT5_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000419628		CCDS7089.1			1	
RHOC	0	LGGM	GRCh37	1	113246278	113246278	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	4	.	.	ENST00000285735.2:c.144G>T	p.Val48=	p.V48=	ENST00000285735		48	gtG/gtT	0	1	1	UPI0000003EF1	0		ENST00000285735		ENSG00000155366	669		8			HGNC	p.V48V		RHOC		SNV							ENST00000414971	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF100,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		V		A		1354/2199				Q5JR08_HUMAN,Q5JR07_HUMAN,Q5JR06_HUMAN,E9PQH6_HUMAN			YES	RHOC,synonymous_variant,p.=,ENST00000285735,;RHOC,synonymous_variant,p.=,ENST00000339083,NM_175744.4;RHOC,synonymous_variant,p.=,ENST00000369642,NM_001042678.1;RHOC,synonymous_variant,p.=,ENST00000369633,NM_001042679.1;RHOC,synonymous_variant,p.=,ENST00000369638,;RHOC,synonymous_variant,p.=,ENST00000369632,;RHOC,synonymous_variant,p.=,ENST00000369637,;RHOC,synonymous_variant,p.=,ENST00000425265,;RP11-426L16.10,synonymous_variant,p.=,ENST00000606505,;RHOC,synonymous_variant,p.=,ENST00000369636,;RP11-426L16.10,synonymous_variant,p.=,ENST00000605933,;RHOC,synonymous_variant,p.=,ENST00000534717,;RHOC,synonymous_variant,p.=,ENST00000484054,;RHOC,synonymous_variant,p.=,ENST00000436685,;RHOC,synonymous_variant,p.=,ENST00000414971,;MOV10,downstream_gene_variant,,ENST00000369644,NM_001286072.1;MOV10,downstream_gene_variant,,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,downstream_gene_variant,,ENST00000369645,;MOV10,downstream_gene_variant,,ENST00000357443,;RP11-426L16.10,non_coding_transcript_exon_variant,,ENST00000471038,;MOV10,downstream_gene_variant,,ENST00000468624,;MOV10,downstream_gene_variant,,ENST00000496577,;MOV10,downstream_gene_variant,,ENST00000490413,;MOV10,downstream_gene_variant,,ENST00000488160,;MOV10,downstream_gene_variant,,ENST00000494319,;MOV10,downstream_gene_variant,,ENST00000495374,;MOV10,downstream_gene_variant,,ENST00000471160,;MOV10,downstream_gene_variant,,ENST00000482545,;MOV10,downstream_gene_variant,,ENST00000481711,;RHOC,synonymous_variant,p.=,ENST00000468093,;RHOC,synonymous_variant,p.=,ENST00000484280,;RHOC,synonymous_variant,p.=,ENST00000528831,;RP11-426L16.10,3_prime_UTR_variant,,ENST00000606954,;RP11-426L16.10,non_coding_transcript_exon_variant,,ENST00000607158,;RHOC,non_coding_transcript_exon_variant,,ENST00000478447,;RHOC,upstream_gene_variant,,ENST00000473074,;RHOC,downstream_gene_variant,,ENST00000527563,;							LOW	144/582		RHOC_HUMAN			Transcript			.	ENSP00000285735		CCDS854.1			1	
C22orf31	0	LGGM	GRCh37	22	29455026	29455026	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000216071.4:c.577C>A	p.Gln193Lys	p.Q193K	ENST00000216071	NM_015370.1	193	Caa/Aaa	0	1	1	UPI0000073FE0	0	NA	ENST00000216071		ENSG00000100249	26931		40	0		HGNC	p.Q193K		C22orf31		SNV							ENST00000216071	protein_coding	getma.org/?cm=var&var=hg19,22,29455026,G,T&fts=all		Pfam_domain:PF15578,hmmpanther:PTHR15578		Q/K		T	neutral	629/995		getma.org/?cm=msa&ty=f&p=CV031_HUMAN&rb=2&re=254&var=Q193K	tolerated(0.07)				YES	C22orf31,missense_variant,p.Gln193Lys,ENST00000216071,NM_015370.1;ZNRF3,downstream_gene_variant,,ENST00000544604,NM_001206998.1;ZNRF3,downstream_gene_variant,,ENST00000332811,;							MODERATE	577/873	Q193K	CV031_HUMAN			Transcript		benign(0.018)	.	ENSP00000216071		CCDS13848.1			1	
CXorf67	0	LGGM	GRCh37	X	51151142	51151142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000342995.2:c.1274G>T	p.Trp425Leu	p.W425L	ENST00000342995		425	tGg/tTg	0	1	1	UPI000000DB6D	0		ENST00000342995		ENSG00000187690	33738		32			HGNC	p.W425L		CXorf67		SNV							ENST00000342995	protein_coding			hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0		W/L		T		1376/1921			tolerated(0.64)				YES	CXorf67,missense_variant,p.Trp425Leu,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;							MODERATE	1274/1512		CX067_HUMAN			Transcript		benign(0.222)	.	ENSP00000342680					1	
CLIP3	0	LGGM	GRCh37	19	36517052	36517052	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	4	.	.	ENST00000360535.4:c.678G>T	p.Leu226=	p.L226=	ENST00000360535	NM_015526.2	226	ctG/ctT	0	1	1	UPI0000044718	0		ENST00000360535		ENSG00000105270	24314		8			HGNC	p.L226L		CLIP3		SNV							ENST00000593074	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF11,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		A		906/3370				K7ESF3_HUMAN,B3KR09_HUMAN,B3KP03_HUMAN			YES	CLIP3,synonymous_variant,p.=,ENST00000360535,NM_015526.2;CLIP3,synonymous_variant,p.=,ENST00000593074,NM_001199570.1;CLIP3,downstream_gene_variant,,ENST00000592017,;CLIP3,downstream_gene_variant,,ENST00000590559,;AC002116.7,intron_variant,,ENST00000586962,;CLIP3,non_coding_transcript_exon_variant,,ENST00000585466,;							LOW	678/1644		CLIP3_HUMAN			Transcript			.	ENSP00000353732		CCDS12486.1			1	
OR1D5	0	LGGM	GRCh37	17	2966548	2966548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000575751.1:c.354G>T	p.Met118Ile	p.M118I	ENST00000575751	NM_014566.1	118	atG/atT	0	1	1	UPI0000041B11	0	getma.org/pdb.php?prot=OR1D5_HUMAN&from=41&to=289&var=M118I	ENST00000575751		ENSG00000262628	8186		19	3.43		HGNC	p.M118I		OR1D5		SNV							ENST00000575751	protein_coding	getma.org/?cm=var&var=hg19,17,2966548,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF285,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		M/I		A	medium	354/939		getma.org/?cm=msa&ty=f&p=OR1D5_HUMAN&rb=41&re=289&var=M118I	deleterious(0.01)	Q6IFL7_HUMAN			YES	OR1D5,missense_variant,p.Met118Ile,ENST00000575751,NM_014566.1;							MODERATE	354/939	M118I	OR1D5_HUMAN			Transcript		benign(0.077)	.	ENSP00000459028		CCDS58499.1			1	
KAT2B	0	LGGM	GRCh37	3	20189473	20189473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000263754.4:c.2138C>A	p.Pro713Gln	p.P713Q	ENST00000263754	NM_003884.4	713	cCg/cAg	0	1	1	UPI00002132DE	0	NA	ENST00000263754		ENSG00000114166	8638		39	2.32		HGNC	p.P713Q		KAT2B		SNV							ENST00000263754	protein_coding	getma.org/?cm=var&var=hg19,3,20189473,C,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,Gene3D:1.20.920.10,PIRSF_domain:PIRSF003048,Superfamily_domains:SSF47370		P/Q		A	medium	2593/4833		getma.org/?cm=msa&ty=f&p=KAT2B_HUMAN&rb=625&re=731&var=P713Q	deleterious(0.02)				YES	KAT2B,missense_variant,p.Pro713Gln,ENST00000263754,NM_003884.4;KAT2B,upstream_gene_variant,,ENST00000468400,;KAT2B,downstream_gene_variant,,ENST00000468111,;							MODERATE	2138/2499	P713Q	KAT2B_HUMAN			Transcript		benign(0.127)	.	ENSP00000263754		CCDS2634.1			1	
MICAL2	0	LGGM	GRCh37	11	12261090	12261090	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000256194.4:c.2172C>A	p.Ala724=	p.A724=	ENST00000256194	NM_014632.2	724	gcC/gcA	0	1	1	UPI000000DA92	0		ENST00000256194		ENSG00000133816	24693		36			HGNC	p.A724A		MICAL2		SNV							ENST00000256194	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF239		A		A		2460/3906				E9PRE0_HUMAN,E9PNC3_HUMAN,E9PL42_HUMAN,E9PKI3_HUMAN,E9PJB0_HUMAN			YES	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,,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,;							LOW	2172/3375		MICA2_HUMAN			Transcript			.	ENSP00000256194		CCDS7809.1			1	
SRP72	0	LGGM	GRCh37	4	57367873	57367873	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000342756.5:c.1862G>T	p.Ser621Ile	p.S621I	ENST00000342756	NM_006947.3	621	aGc/aTc	0	1	1	UPI000013EEB0	0	NA	ENST00000342756		ENSG00000174780	11303		46	1.78		HGNC	p.S621I		SRP72		SNV			1				ENST00000342756	protein_coding	getma.org/?cm=var&var=hg19,4,57367873,G,T&fts=all		hmmpanther:PTHR14094:SF9,hmmpanther:PTHR14094,PIRSF_domain:PIRSF038922		S/I		T	low	2583/3983		getma.org/?cm=msa&ty=f&p=SRP72_HUMAN&rb=589&re=671&var=S621I	deleterious(0)	Q86X80_HUMAN			YES	SRP72,missense_variant,p.Ser621Ile,ENST00000342756,NM_006947.3;SRP72,missense_variant,p.Ser560Ile,ENST00000510663,NM_001267722.1;ARL9,upstream_gene_variant,,ENST00000360096,NM_206919.1;SRP72,non_coding_transcript_exon_variant,,ENST00000507126,;							MODERATE	1862/2016	S621I	SRP72_HUMAN			Transcript		benign(0.298)	.	ENSP00000342181		CCDS3506.1			1	
MYO15A	0	LGGM	GRCh37	17	18057095	18057095	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000205890.5:c.7973C>A	p.Pro2658His	p.P2658H	ENST00000205890	NM_016239.3	2658	cCc/cAc	0	1	1	UPI0000E59E6E	0	NA	ENST00000205890		ENSG00000091536	7594		18	1.905		HGNC	p.P2658H		MYO15A		SNV			1				ENST00000205890	protein_coding	getma.org/?cm=var&var=hg19,17,18057095,C,A&fts=all				P/H		A	medium	8311/11863		getma.org/?cm=msa&ty=f&p=MYO15_HUMAN&rb=2618&re=2817&var=P2658H		K7EQV1_HUMAN,G3V4G3_HUMAN			YES	MYO15A,missense_variant,p.Pro2658His,ENST00000205890,NM_016239.3;MYO15A,5_prime_UTR_variant,,ENST00000418233,;MYO15A,upstream_gene_variant,,ENST00000556535,;MYO15A,upstream_gene_variant,,ENST00000578472,;MYO15A,upstream_gene_variant,,ENST00000585180,;MYO15A,upstream_gene_variant,,ENST00000557190,;MYO15A,upstream_gene_variant,,ENST00000433411,;MYO15A,upstream_gene_variant,,ENST00000445289,;MYO15A,downstream_gene_variant,,ENST00000578999,;MYO15A,upstream_gene_variant,,ENST00000536811,;MYO15A,upstream_gene_variant,,ENST00000557655,;							MODERATE	7973/10593	P2658H	MYO15_HUMAN			Transcript		unknown(0)	.	ENSP00000205890		CCDS42271.1			1	
CACNA2D4	0	LGGM	GRCh37	12	1988193	1988193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	9	4	.	.	ENST00000382722.5:c.1573G>T	p.Gly525Cys	p.G525C	ENST00000382722	NM_172364.4	525	Ggc/Tgc	0	1	1	UPI0000E593D9	0	getma.org/pdb.php?prot=CA2D4_HUMAN&from=487&to=580&var=G525C	ENST00000382722		ENSG00000151062	20202		13	3.81		HGNC	p.G461C		CACNA2D4		SNV			1				ENST00000585708	protein_coding	getma.org/?cm=var&var=hg19,12,1988193,C,A&fts=all		Gene3D:3.30.450.20,Pfam_domain:PF02743,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26		G/C		A	high	1936/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=487&re=580&var=G525C	deleterious(0)				YES	CACNA2D4,missense_variant,p.Gly525Cys,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Gly525Cys,ENST00000587995,;CACNA2D4,missense_variant,p.Gly525Cys,ENST00000586184,;CACNA2D4,missense_variant,p.Gly461Cys,ENST00000588077,;CACNA2D4,missense_variant,p.Gly461Cys,ENST00000585708,;CACNA2D4,missense_variant,p.Gly410Cys,ENST00000585732,;CACNA2D4,upstream_gene_variant,,ENST00000539048,;CACNA2D4,missense_variant,p.Gly525Cys,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;							MODERATE	1573/3414	G525C	CA2D4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000372169		CCDS44785.1			1	
KMT2A	0	LGGM	GRCh37	11	118376921	118376921	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000534358.1:c.10314G>T	p.Thr3438=	p.T3438=	ENST00000534358	NM_005933.3	3438	acG/acT	0	1		UPI00001BE8DF	0		ENST00000389506		ENSG00000118058	7132		37			HGNC	p.T3397T		KMT2A		SNV			1				ENST00000354520	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		T		T		10305/13655				Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				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,,ENST00000534678,;KMT2A,upstream_gene_variant,,ENST00000534085,;							LOW	10305/11910		KMT2A_HUMAN			Transcript			.	ENSP00000374157		CCDS31686.1			1	
ARID1A	0	LGGM	GRCh37	1	27101546	27101546	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	4	.	.	ENST00000324856.7:c.4828G>T	p.Gly1610Trp	p.G1610W	ENST00000324856	NM_006015.4	1610	Ggg/Tgg	0	1	1	UPI0000167B91	0	NA	ENST00000324856		ENSG00000117713	11110		29	1.355		HGNC	p.G1227W		ARID1A		SNV			1				ENST00000374152	protein_coding	getma.org/?cm=var&var=hg19,1,27101546,G,T&fts=all		hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12		G/W		T	low	5199/8577		getma.org/?cm=msa&ty=f&p=ARI1A_HUMAN&rb=1505&re=1704&var=G1610W		Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,missense_variant,p.Gly1610Trp,ENST00000324856,NM_006015.4;ARID1A,missense_variant,p.Gly1393Trp,ENST00000457599,NM_139135.2;ARID1A,missense_variant,p.Gly1227Trp,ENST00000374152,;ARID1A,missense_variant,p.Gly507Trp,ENST00000430799,;ARID1A,intron_variant,,ENST00000540690,;ARID1A,missense_variant,p.Gly63Trp,ENST00000532781,;ARID1A,intron_variant,,ENST00000466382,;							MODERATE	4828/6858	G1610W	ARI1A_HUMAN			Transcript		unknown(0)	.	ENSP00000320485		CCDS285.1			1	
ANKRD52	0	LGGM	GRCh37	12	56641970	56641970	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	4	.	.	ENST00000267116.7:c.1815G>T	p.Ala605=	p.A605=	ENST00000267116	NM_173595.3	605	gcG/gcT	0	1	1	UPI0000237861	0		ENST00000267116		ENSG00000139645	26614		21			HGNC	p.A605A		ANKRD52		SNV							ENST00000417002	protein_coding			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		A		A		1937/8688							YES	ANKRD52,synonymous_variant,p.=,ENST00000267116,NM_173595.3;ANKRD52,upstream_gene_variant,,ENST00000548241,;							LOW	1815/3231		ANR52_HUMAN			Transcript			.	ENSP00000267116		CCDS44920.1			1	
TACC2	0	LGGM	GRCh37	10	123845333	123845333	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	6	4	.	.	ENST00000369005.1:c.3318G>T	p.Ser1106=	p.S1106=	ENST00000369005	NM_206862.2	1106	tcG/tcT	0	1		UPI0000246F6B	0		ENST00000334433		ENSG00000138162	11523		10			HGNC	p.S1106S		TACC2		SNV							ENST00000369005	protein_coding			hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		S		T		3364/9377								TACC2,synonymous_variant,p.=,ENST00000369005,NM_206862.2;TACC2,synonymous_variant,p.=,ENST00000334433,;TACC2,synonymous_variant,p.=,ENST00000515273,;TACC2,synonymous_variant,p.=,ENST00000515603,;TACC2,synonymous_variant,p.=,ENST00000453444,;TACC2,intron_variant,,ENST00000513429,NM_206861.1;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;							LOW	3318/8847		TACC2_HUMAN			Transcript			.	ENSP00000334280		CCDS7626.1			1	
STOX2	0	LGGM	GRCh37	4	184932573	184932573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000308497.4:c.2582C>A	p.Pro861Gln	p.P861Q	ENST00000308497	NM_020225.1	861	cCa/cAa	0	1	1	UPI00001C1E11	0	NA	ENST00000308497		ENSG00000173320	25450		37	1.04		HGNC	p.P861Q		STOX2		SNV							ENST00000308497	protein_coding	getma.org/?cm=var&var=hg19,4,184932573,C,A&fts=all		hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF2		P/Q		A	low	4017/10458		getma.org/?cm=msa&ty=f&p=STOX2_HUMAN&rb=743&re=926&var=P861Q	deleterious_low_confidence(0)	D6RDA5_HUMAN			YES	STOX2,missense_variant,p.Pro861Gln,ENST00000308497,NM_020225.1;STOX2,missense_variant,p.Pro861Gln,ENST00000438269,;STOX2,intron_variant,,ENST00000513034,;STOX2,downstream_gene_variant,,ENST00000512520,;STOX2,missense_variant,p.Pro217Gln,ENST00000506529,;							MODERATE	2582/2781	P861Q	STOX2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000311257		CCDS47167.1			1	
ABCG4	0	LGGM	GRCh37	11	119025549	119025549	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000307417.3:c.610G>T	p.Gly204Trp	p.G204W	ENST00000307417	NM_022169.4	204	Ggg/Tgg	0	1	1	UPI000000D999	0	getma.org/pdb.php?prot=ABCG4_HUMAN&from=109&to=229&var=G204W	ENST00000307417		ENSG00000172350	13884		49	4.895		HGNC	p.G204W		ABCG4		SNV							ENST00000449422	protein_coding	getma.org/?cm=var&var=hg19,11,119025549,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_patterns:PS00211,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211,PROSITE_profiles:PS50893		G/W		T	high	974/3849		getma.org/?cm=msa&ty=f&p=ABCG4_HUMAN&rb=109&re=229&var=G204W	deleterious(0)	Q9NT30_HUMAN,E9PJ00_HUMAN			YES	ABCG4,missense_variant,p.Gly204Trp,ENST00000307417,NM_022169.4;ABCG4,missense_variant,p.Gly204Trp,ENST00000531739,;ABCG4,missense_variant,p.Gly204Trp,ENST00000449422,NM_001142505.1;ABCG4,upstream_gene_variant,,ENST00000534402,;ABCG4,downstream_gene_variant,,ENST00000524604,;AP002956.1,downstream_gene_variant,,ENST00000599663,;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;							MODERATE	610/1941	G204W	ABCG4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304111		CCDS8415.1			1	
ITPKC	0	LGGM	GRCh37	19	41223925	41223925	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000263370.2:c.885G>T	p.Leu295Phe	p.L295F	ENST00000263370	NM_025194.2	295	ttG/ttT	0	1	1	UPI000006E1AC	0	NA	ENST00000263370		ENSG00000086544	14897		36	0.695		HGNC	p.L295F		ITPKC		SNV			1				ENST00000263370	protein_coding	getma.org/?cm=var&var=hg19,19,41223925,G,T&fts=all		hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF26,Low_complexity_(Seg):seg		L/F		T	neutral	918/3385		getma.org/?cm=msa&ty=f&p=IP3KC_HUMAN&rb=1&re=299&var=L295F	deleterious_low_confidence(0.01)				YES	ITPKC,missense_variant,p.Leu295Phe,ENST00000263370,NM_025194.2;ADCK4,intron_variant,,ENST00000594084,;ADCK4,upstream_gene_variant,,ENST00000324464,NM_024876.3;ADCK4,upstream_gene_variant,,ENST00000450541,;ADCK4,upstream_gene_variant,,ENST00000243583,NM_001142555.2;ADCK4,upstream_gene_variant,,ENST00000595254,;ADCK4,upstream_gene_variant,,ENST00000601967,;ADCK4,upstream_gene_variant,,ENST00000594720,;ADCK4,upstream_gene_variant,,ENST00000600080,;ADCK4,upstream_gene_variant,,ENST00000594490,;ADCK4,upstream_gene_variant,,ENST00000600707,;ADCK4,upstream_gene_variant,,ENST00000596357,;ADCK4,upstream_gene_variant,,ENST00000593723,;ADCK4,upstream_gene_variant,,ENST00000601451,;ADCK4,upstream_gene_variant,,ENST00000596455,;ADCK4,upstream_gene_variant,,ENST00000601304,;ADCK4,upstream_gene_variant,,ENST00000599643,;ADCK4,upstream_gene_variant,,ENST00000593544,;							MODERATE	885/2052	L295F	IP3KC_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000263370		CCDS12563.1			1	
NAB2	0	LGGM	GRCh37	12	57485201	57485201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000300131.3:c.377C>A	p.Pro126Gln	p.P126Q	ENST00000300131	NM_005967.3	126	cCg/cAg	0	1	1	UPI000012FC41	0	NA	ENST00000300131		ENSG00000166886	7627		28	0.805		HGNC	p.P126Q		NAB2		SNV			1				ENST00000342556	protein_coding	getma.org/?cm=var&var=hg19,12,57485201,C,A&fts=all		hmmpanther:PTHR12623,hmmpanther:PTHR12623:SF6		P/Q		A	low	755/2711		getma.org/?cm=msa&ty=f&p=NAB2_HUMAN&rb=116&re=198&var=P126Q	deleterious(0)				YES	NAB2,missense_variant,p.Pro126Gln,ENST00000300131,NM_005967.3;NAB2,missense_variant,p.Pro126Gln,ENST00000357680,;NAB2,missense_variant,p.Pro126Gln,ENST00000342556,;STAT6,downstream_gene_variant,,ENST00000300134,NM_001178078.1,NM_003153.4;STAT6,downstream_gene_variant,,ENST00000543873,NM_001178079.1;STAT6,downstream_gene_variant,,ENST00000454075,;STAT6,downstream_gene_variant,,ENST00000556155,;STAT6,downstream_gene_variant,,ENST00000537215,NM_001178080.1;STAT6,downstream_gene_variant,,ENST00000538913,NM_001178081.1;NAB2,non_coding_transcript_exon_variant,,ENST00000554718,;NAB2,non_coding_transcript_exon_variant,,ENST00000555857,;TMEM194A,upstream_gene_variant,,ENST00000553654,;STAT6,downstream_gene_variant,,ENST00000555222,;STAT6,downstream_gene_variant,,ENST00000557563,;NAB2,upstream_gene_variant,,ENST00000554839,;							MODERATE	377/1578	P126Q	NAB2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000300131		CCDS8930.1			1	
TP53BP1	0	LGGM	GRCh37	15	43714100	43714100	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000382044.4:c.4053C>A	p.Pro1351=	p.P1351=	ENST00000382044	NM_001141980.1	1351	ccC/ccA	0	1		UPI0000131031	0		ENST00000263801		ENSG00000067369	11999		22			HGNC	p.P1351P	COSM3672050	TP53BP1		SNV						1	ENST00000382039	protein_coding			hmmpanther:PTHR15321		P		T		4291/6346				B3KVT9_HUMAN				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.=,ENST00000467474,;TP53BP1,upstream_gene_variant,,ENST00000571145,;TP53BP1,3_prime_UTR_variant,,ENST00000411772,;TP53BP1,3_prime_UTR_variant,,ENST00000417342,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,upstream_gene_variant,,ENST00000476454,;TP53BP1,upstream_gene_variant,,ENST00000434561,;					1		LOW	4038/5919		TP53B_HUMAN			Transcript			.	ENSP00000263801		CCDS10096.1			1	
EPHA8	0	LGGM	GRCh37	1	22922624	22922624	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000166244.3:c.1723C>A	p.Gln575Lys	p.Q575K	ENST00000166244	NM_020526.3	575	Cag/Aag	0	1	1	UPI000012A07B	0	NA	ENST00000166244		ENSG00000070886	3391		11	2.265		HGNC	p.Q575K		EPHA8		SNV							ENST00000166244	protein_coding	getma.org/?cm=var&var=hg19,1,22922624,C,A&fts=all		PIRSF_domain:PIRSF000666,Pfam_domain:PF14575,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF274		Q/K		A	medium	1795/4943		getma.org/?cm=msa&ty=f&p=EPHA8_HUMAN&rb=525&re=634&var=Q575K	tolerated(0.21)				YES	EPHA8,missense_variant,p.Gln575Lys,ENST00000166244,NM_020526.3;							MODERATE	1723/3018	Q575K	EPHA8_HUMAN			Transcript		benign(0.184)	.	ENSP00000166244		CCDS225.1			1	
ATF3	0	LGGM	GRCh37	1	212788532	212788532	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000341491.4:c.169C>A	p.Arg57=	p.R57=	ENST00000341491	NM_001040619.2	57	Cgg/Agg	0	1	1	UPI000012622E	0		ENST00000341491		ENSG00000162772	785		37			HGNC	p.R57R		ATF3		SNV							ENST00000464547	protein_coding			hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF23		R		A		434/2033				Q5VTZ4_HUMAN			YES	ATF3,synonymous_variant,p.=,ENST00000341491,NM_001040619.2,NM_001674.3,NM_001206488.2;ATF3,synonymous_variant,p.=,ENST00000366987,NM_001030287.3;ATF3,synonymous_variant,p.=,ENST00000366983,;ATF3,synonymous_variant,p.=,ENST00000366981,;ATF3,synonymous_variant,p.=,ENST00000336937,NM_001206486.2;ATF3,5_prime_UTR_variant,,ENST00000366985,NM_001206484.2;RN7SL512P,downstream_gene_variant,,ENST00000578962,;ATF3,non_coding_transcript_exon_variant,,ENST00000465155,;ATF3,intron_variant,,ENST00000492118,;ATF3,synonymous_variant,p.=,ENST00000464547,;							LOW	169/546		ATF3_HUMAN			Transcript			.	ENSP00000344352		CCDS1506.1			1	
KCNB1	0	LGGM	GRCh37	20	47990364	47990364	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	4	.	.	ENST00000371741.4:c.1733G>T	p.Gly578Val	p.G578V	ENST00000371741	NM_004975.2	578	gGg/gTg	0	1	1	UPI000012DC80	0	NA	ENST00000371741		ENSG00000158445	6231		25	1.385		HGNC	p.G578V		KCNB1		SNV			1				ENST00000371741	protein_coding	getma.org/?cm=var&var=hg19,20,47990364,C,A&fts=all		Prints_domain:PR01514,Pfam_domain:PF03521		G/V		A	low	1900/11850		getma.org/?cm=msa&ty=f&p=KCNB1_HUMAN&rb=467&re=716&var=G578V	tolerated_low_confidence(0.51)				YES	KCNB1,missense_variant,p.Gly578Val,ENST00000371741,NM_004975.2;							MODERATE	1733/2577	G578V	KCNB1_HUMAN			Transcript		benign(0.136)	.	ENSP00000360806		CCDS13418.1			1	
TDRD6	0	LGGM	GRCh37	6	46656889	46656889	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000316081.6:c.1024C>A	p.Gln342Lys	p.Q342K	ENST00000316081	NM_001010870.2	342	Cag/Aag	0	1	1	UPI0000251E8A	0	getma.org/pdb.php?prot=TDRD6_HUMAN&from=246&to=380&var=Q342K	ENST00000316081		ENSG00000180113	21339		33	-0.205		HGNC	p.Q342K		TDRD6		SNV							ENST00000316081	protein_coding	getma.org/?cm=var&var=hg19,6,46656889,C,A&fts=all		Gene3D:2.30.30.140,Pfam_domain:PF00567,PROSITE_profiles:PS50304,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF7,SMART_domains:SM00333,Superfamily_domains:SSF63748		Q/K		A	neutral	1024/6817		getma.org/?cm=msa&ty=f&p=TDRD6_HUMAN&rb=246&re=380&var=Q342K	tolerated(1)				YES	TDRD6,missense_variant,p.Gln342Lys,ENST00000544460,NM_001168359.1;TDRD6,missense_variant,p.Gln342Lys,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,;							MODERATE	1024/6291	Q342K	TDRD6_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000346065		CCDS34470.1			1	
C5orf20	0	LGGM	GRCh37	5	134782137	134782137	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000503143.2:c.662G>T	p.Arg221Leu	p.R221L	ENST00000503143	NM_130848.2	221	cGg/cTg	0	1	1	UPI000006FF8B	0	NA	ENST00000503143		ENSG00000251380	24459		19	0		HGNC	p.R221L		C5orf20		SNV							ENST00000503143	protein_coding	getma.org/?cm=var&var=hg19,5,134782137,C,A&fts=all		Low_complexity_(Seg):seg		R/L		A	neutral	902/3134		getma.org/?cm=msa&ty=f&p=DCNP1_HUMAN&rb=201&re=244&var=R221L	tolerated_low_confidence(0.47)				YES	C5orf20,missense_variant,p.Arg221Leu,ENST00000503143,NM_130848.2;TIFAB,3_prime_UTR_variant,,ENST00000537858,NM_001099221.1;CTB-138E5.1,upstream_gene_variant,,ENST00000510230,;							MODERATE	662/735	R221L	DCNP1_HUMAN			Transcript		benign(0.005)	.	ENSP00000421871		CCDS4186.1			1	
NCOA6	0	LGGM	GRCh37	20	33337626	33337626	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000374796.2:c.2372C>A	p.Pro791Gln	p.P791Q	ENST00000374796		791	cCa/cAa	0	1		UPI000013C634	0	NA	ENST00000359003		ENSG00000198646	15936		33	0.345		HGNC	p.P791Q		NCOA6		SNV							ENST00000359003	protein_coding	getma.org/?cm=var&var=hg19,20,33337626,G,T&fts=all		hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690		P/Q		T	neutral	2713/7081		getma.org/?cm=msa&ty=f&p=NCOA6_HUMAN&rb=705&re=1513&var=P791Q						NCOA6,missense_variant,p.Pro791Gln,ENST00000374796,;NCOA6,missense_variant,p.Pro791Gln,ENST00000359003,NM_014071.3,NM_001242539.1;							MODERATE	2372/6192	P791Q	NCOA6_HUMAN			Transcript		benign(0.372)	.	ENSP00000351894		CCDS13241.1			1	
ATP13A1	0	LGGM	GRCh37	19	19770540	19770540	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000357324.6:c.547G>T	p.Ala183Ser	p.A183S	ENST00000357324	NM_020410.2	183	Gcc/Tcc	0	1	1	UPI0000126647	0	NA	ENST00000357324		ENSG00000105726	24215		38	0.74		HGNC	p.A183S		ATP13A1		SNV							ENST00000357324	protein_coding	getma.org/?cm=var&var=hg19,19,19770540,C,A&fts=all		TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF82		A/S		A	neutral	574/3861		getma.org/?cm=msa&ty=f&p=AT131_HUMAN&rb=131&re=265&var=A183S	tolerated(0.98)	Q8N3E5_HUMAN			YES	ATP13A1,missense_variant,p.Ala183Ser,ENST00000357324,NM_020410.2;ATP13A1,missense_variant,p.Ala65Ser,ENST00000291503,;ATP13A1,missense_variant,p.Ala102Ser,ENST00000455627,;ATP13A1,upstream_gene_variant,,ENST00000496082,;ATP13A1,downstream_gene_variant,,ENST00000487364,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000474955,;ATP13A1,non_coding_transcript_exon_variant,,ENST00000492774,;ATP13A1,upstream_gene_variant,,ENST00000473243,;ATP13A1,upstream_gene_variant,,ENST00000497556,;ATP13A1,upstream_gene_variant,,ENST00000497156,;ATP13A1,upstream_gene_variant,,ENST00000497762,;							MODERATE	547/3615	A183S	AT131_HUMAN			Transcript		benign(0.002)	.	ENSP00000349877		CCDS32970.2			1	
PRF1	0	LGGM	GRCh37	10	72358101	72358101	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	4	4	.	.	ENST00000441259.1:c.1376C>A	p.Pro459His	p.P459H	ENST00000441259	NM_005041.4	459	cCc/cAc	0	1		UPI000013162B	0	getma.org/pdb.php?prot=PERF_HUMAN&from=417&to=498&var=P459H	ENST00000373209		ENSG00000180644	9360		8	4.37		HGNC	p.P459H		PRF1		SNV			1				ENST00000318971	protein_coding	getma.org/?cm=var&var=hg19,10,72358101,G,T&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR19325:SF3,hmmpanther:PTHR19325,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		P/H		T	high	1495/2492		getma.org/?cm=msa&ty=f&p=PERF_HUMAN&rb=417&re=498&var=P459H	deleterious(0)	S5S2F2_HUMAN,S5RDP5_HUMAN				PRF1,missense_variant,p.Pro459His,ENST00000441259,NM_005041.4,NM_001083116.1;PRF1,missense_variant,p.Pro459His,ENST00000373209,;							MODERATE	1376/1668	P459H	PERF_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362305		CCDS7305.1			1	
SUPT6H	0	LGGM	GRCh37	17	27014391	27014391	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000314616.6:c.2908G>T	p.Gly970Trp	p.G970W	ENST00000314616	NM_003170.3	970	Ggg/Tgg	0	1	1	UPI000015FFA7	0	getma.org/pdb.php?prot=SPT6H_HUMAN&from=868&to=1067&var=G970W	ENST00000314616		ENSG00000109111	11470		33	4.25		HGNC	p.G970W		SUPT6H		SNV							ENST00000347486	protein_coding	getma.org/?cm=var&var=hg19,17,27014391,G,T&fts=all		Superfamily_domains:SSF47781,PIRSF_domain:PIRSF036947,Gene3D:3bzcA02,Pfam_domain:PF14635,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145		G/W		T	high	3191/6518		getma.org/?cm=msa&ty=f&p=SPT6H_HUMAN&rb=868&re=1067&var=G970W	deleterious(0)	J3QS64_HUMAN			YES	SUPT6H,missense_variant,p.Gly970Trp,ENST00000314616,NM_003170.3;SUPT6H,missense_variant,p.Gly970Trp,ENST00000347486,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000581908,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000585230,;SUPT6H,upstream_gene_variant,,ENST00000583972,;							MODERATE	2908/5181	G970W	SPT6H_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000319104		CCDS32596.1			1	
LTBP4	0	LGGM	GRCh37	19	41114135	41114135	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000308370.7:c.1367G>T	p.Arg456Leu	p.R456L	ENST00000308370	NM_001042544.1	456	cGg/cTg	0	1	1	UPI000179A7A0	0	getma.org/pdb.php?prot=LTBP4_HUMAN&from=416&to=458&var=R456L	ENST00000308370		ENSG00000090006	6717		32	0.895		HGNC	p.R456L		LTBP4		SNV			1				ENST00000308370	protein_coding	getma.org/?cm=var&var=hg19,19,41114135,G,T&fts=all		Superfamily_domains:SSF57581,Gene3D:3.90.290.10,Pfam_domain:PF00683,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS51364		R/L		T	low	1367/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=416&re=458&var=R456L	tolerated(0.08)				YES	LTBP4,missense_variant,p.Arg456Leu,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Arg419Leu,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Arg389Leu,ENST00000396819,NM_001042545.1;LTBP4,5_prime_UTR_variant,,ENST00000545697,;LTBP4,upstream_gene_variant,,ENST00000601032,;RN7SL758P,upstream_gene_variant,,ENST00000580450,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602240,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600509,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601209,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000599016,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,upstream_gene_variant,,ENST00000601560,;LTBP4,downstream_gene_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598055,;LTBP4,upstream_gene_variant,,ENST00000595183,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595529,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,downstream_gene_variant,,ENST00000593738,;							MODERATE	1367/4872	R456L	LTBP4_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000311905					1	
CCDC74A	0	LGGM	GRCh37	2	132290476	132290476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000295171.6:c.916C>A	p.Pro306Thr	p.P306T	ENST00000295171	NM_138770.2	306	Ccc/Acc	0	1	1	UPI000006E43A	0	NA	ENST00000295171		ENSG00000163040	25197		19	1.95		HGNC	p.P306T		CCDC74A		SNV							ENST00000295171	protein_coding	getma.org/?cm=var&var=hg19,2,132290476,C,A&fts=all		Pfam_domain:PF14917		P/T		A	medium	1054/1543		getma.org/?cm=msa&ty=f&p=CC74A_HUMAN&rb=1&re=376&var=P306T	tolerated(0.24)				YES	CCDC74A,missense_variant,p.Pro306Thr,ENST00000295171,NM_138770.2,NM_001258305.1,NM_001258304.1;CCDC74A,missense_variant,p.Pro240Thr,ENST00000409856,NM_001258306.1;CCDC74A,synonymous_variant,p.=,ENST00000434330,;CCDC74A,3_prime_UTR_variant,,ENST00000467992,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;							MODERATE	916/1137	P306T	CC74A_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000295171		CCDS2167.1			1	
DNTT	0	LGGM	GRCh37	10	98092285	98092285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	4	.	.	ENST00000371174.2:c.1291C>A	p.Arg431Ser	p.R431S	ENST00000371174		431	Cgt/Agt	0	1	1	UPI000013C84B	0	getma.org/pdb.php?prot=TDT_HUMAN&from=404&to=509&var=R431S	ENST00000371174		ENSG00000107447	2983		48	3.09		HGNC	p.R431S		DNTT		SNV							ENST00000371174	protein_coding	getma.org/?cm=var&var=hg19,10,98092285,C,A&fts=all		hmmpanther:PTHR11276:SF21,hmmpanther:PTHR11276,Gene3D:3.30.460.10,PIRSF_domain:PIRSF501175,SMART_domains:SM00483,PIRSF_domain:PIRSF000817,Superfamily_domains:SSF81301,Prints_domain:PR00869,Prints_domain:PR00871		R/S		A	medium	1393/1972		getma.org/?cm=msa&ty=f&p=TDT_HUMAN&rb=404&re=509&var=R431S	deleterious(0)				YES	DNTT,missense_variant,p.Arg431Ser,ENST00000419175,NM_004088.3,NM_001017520.1;DNTT,missense_variant,p.Arg431Ser,ENST00000371174,;							MODERATE	1291/1530	R431S	TDT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360216		CCDS7447.1			1	
OLFM1	0	LGGM	GRCh37	9	138012012	138012012	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000252854.4:c.1392C>A	p.Ser464=	p.S464=	ENST00000252854	NM_014279.4	464	tcC/tcA	0	1		UPI000013DB05	0		ENST00000371793		ENSG00000130558	17187		38			HGNC	p.S455S		OLFM1		SNV							ENST00000371796	protein_coding			hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF34		S		A		1697/2444				Q96BL8_HUMAN,F5H810_HUMAN,F5GZQ2_HUMAN,B3KR22_HUMAN				OLFM1,synonymous_variant,p.=,ENST00000252854,NM_014279.4;OLFM1,synonymous_variant,p.=,ENST00000371796,NM_001282612.1;OLFM1,synonymous_variant,p.=,ENST00000371793,NM_001282611.1;OLFM1,downstream_gene_variant,,ENST00000539877,;OLFM1,downstream_gene_variant,,ENST00000545657,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;							LOW	1446/1458		NOE1_HUMAN			Transcript			.	ENSP00000360858		CCDS65184.1			1	
CIDEC	0	LGGM	GRCh37	3	9911906	9911906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000430427.1:c.338G>T	p.Gly113Val	p.G113V	ENST00000430427	NM_001199551.1	113	gGg/gTg	0	1		UPI000000D786	0	getma.org/pdb.php?prot=CIDEC_HUMAN&from=41&to=118&var=G103V	ENST00000336832		ENSG00000187288	24229		18	0.345		HGNC	p.G29V		CIDEC		SNV			1				ENST00000423850	protein_coding	getma.org/?cm=var&var=hg19,3,9911906,C,A&fts=all		Gene3D:3.10.20.10,Pfam_domain:PF02017,PROSITE_profiles:PS51135,hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF9,SMART_domains:SM00266,Superfamily_domains:SSF54277		G/V		A	neutral	448/1277		getma.org/?cm=msa&ty=f&p=CIDEC_HUMAN&rb=41&re=118&var=G103V	deleterious(0)					CIDEC,missense_variant,p.Gly103Val,ENST00000336832,NM_022094.3,NM_001199623.1,NM_001199552.1;CIDEC,missense_variant,p.Gly29Val,ENST00000455015,;CIDEC,missense_variant,p.Gly29Val,ENST00000423850,;CIDEC,missense_variant,p.Gly113Val,ENST00000430427,NM_001199551.1;CIDEC,intron_variant,,ENST00000383817,;CIDEC,intron_variant,,ENST00000443115,;							MODERATE	308/717	G103V	CIDEC_HUMAN			Transcript		benign(0.102)	.	ENSP00000338642		CCDS2587.1			1	
RNF26	0	LGGM	GRCh37	11	119206917	119206917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	4	.	.	ENST00000311413.4:c.1085C>A	p.Pro362Gln	p.P362Q	ENST00000311413	NM_032015.4	362	cCa/cAa	0	1	1	UPI0000001BF4	0	NA	ENST00000311413		ENSG00000173456	14646		21	0		HGNC	p.P362Q		RNF26		SNV							ENST00000311413	protein_coding	getma.org/?cm=var&var=hg19,11,119206917,C,A&fts=all		hmmpanther:PTHR22696:SF1,hmmpanther:PTHR22696		P/Q		A	neutral	1681/2787		getma.org/?cm=msa&ty=f&p=RNF26_HUMAN&rb=320&re=375&var=P362Q	tolerated(0.43)				YES	RNF26,missense_variant,p.Pro362Gln,ENST00000311413,NM_032015.4;MFRP,downstream_gene_variant,,ENST00000555262,;C1QTNF5,downstream_gene_variant,,ENST00000445041,NM_031433.3,NM_015645.4;MFRP,downstream_gene_variant,,ENST00000449574,;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,;							MODERATE	1085/1302	P362Q	RNF26_HUMAN			Transcript		benign(0.065)	.	ENSP00000312439		CCDS8419.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18905844	18905844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000380548.4:c.4916G>T	p.Arg1639Leu	p.R1639L	ENST00000380548	NM_001040272.5	1639	cGg/cTg	0	1	1	UPI000004FD83	0	NA	ENST00000380548		ENSG00000178031	14632		49	0.735		HGNC	p.R340L		ADAMTSL1		SNV							ENST00000380545	protein_coding	getma.org/?cm=var&var=hg19,9,18905844,G,T&fts=all		hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,SMART_domains:SM00209		R/L		T	neutral	5255/8030		getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=1608&re=1728&var=R1639L	tolerated(0.06)	H7BYE3_HUMAN			YES	ADAMTSL1,missense_variant,p.Arg1639Leu,ENST00000380548,NM_001040272.5;ADAMTSL1,missense_variant,p.Arg340Leu,ENST00000380545,;ADAMTSL1,synonymous_variant,p.=,ENST00000388710,;ADAMTSL1,3_prime_UTR_variant,,ENST00000542621,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000489062,;							MODERATE	4916/5289	R1639L	ATL1_HUMAN			Transcript		benign(0.004)	.	ENSP00000369921		CCDS47954.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18680355	18680355	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000380548.4:c.1182G>T	p.Gly394=	p.G394=	ENST00000380548	NM_001040272.5	394	ggG/ggT	0	1	1	UPI000004FD83	0		ENST00000380548		ENSG00000178031	14632		18			HGNC	p.G394G		ADAMTSL1		SNV							ENST00000380548	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		G		T		1521/8030				H7BYE3_HUMAN			YES	ADAMTSL1,synonymous_variant,p.=,ENST00000380548,NM_001040272.5;ADAMTSL1,synonymous_variant,p.=,ENST00000276935,;ADAMTSL1,synonymous_variant,p.=,ENST00000380566,;ADAMTSL1,synonymous_variant,p.=,ENST00000327883,NM_052866.4;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000546040,;							LOW	1182/5289		ATL1_HUMAN			Transcript			.	ENSP00000369921		CCDS47954.1			1	
AARS	0	LGGM	GRCh37	16	70287666	70287666	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	4	.	.	ENST00000261772.8:c.2558C>A	p.Pro853His	p.P853H	ENST00000261772	NM_001605.2	853	cCc/cAc	0	1	1	UPI0000169F0B	0	NA	ENST00000261772		ENSG00000090861	20		28	2.095		HGNC	p.P853H		AARS		SNV			1				ENST00000261772	protein_coding	getma.org/?cm=var&var=hg19,16,70287666,G,T&fts=all		HAMAP:MF_00036_B,hmmpanther:PTHR11777,hmmpanther:PTHR11777:SF9,TIGRFAM_domain:TIGR00344		P/H		T	medium	2702/3477		getma.org/?cm=msa&ty=f&p=SYAC_HUMAN&rb=754&re=884&var=P853H	deleterious(0.03)				YES	AARS,missense_variant,p.Pro853His,ENST00000261772,NM_001605.2;EXOSC6,upstream_gene_variant,,ENST00000435634,NM_058219.2;AARS,downstream_gene_variant,,ENST00000565361,;AARS,downstream_gene_variant,,ENST00000564359,;AARS,non_coding_transcript_exon_variant,,ENST00000569825,;							MODERATE	2558/2907	P853H	SYAC_HUMAN			Transcript		benign(0.089)	.	ENSP00000261772		CCDS32474.1			1	
BLTP1	0	LGGM	GRCh37	4	123130981	123130981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000264501.4:c.1940G>T	p.Trp647Leu	p.W647L	ENST00000264501		647	tGg/tTg	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		46	2.44		HGNC	p.W647L		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123130981,G,T&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		W/L		T	medium	2313/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1&re=1180&var=W647L		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Trp647Leu,ENST00000264501,;KIAA1109,missense_variant,p.Trp647Leu,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Trp647Leu,ENST00000455637,;KIAA1109,missense_variant,p.Trp480Leu,ENST00000424425,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000482114,;							MODERATE	1940/15018	W647L	K1109_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000264501		CCDS43267.1			1	
ZNF546	0	LGGM	GRCh37	19	40520036	40520036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000347077.4:c.859C>A	p.His287Asn	p.H287N	ENST00000347077	NM_178544.3	287	Cac/Aac	0	1	1	UPI00001984E3	0	getma.org/pdb.php?prot=ZN546_HUMAN&from=287&to=312&var=H287N	ENST00000347077		ENSG00000187187	28671		37	-0.25		HGNC	p.H287N		ZNF546		SNV							ENST00000347077	protein_coding	getma.org/?cm=var&var=hg19,19,40520036,C,A&fts=all		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		H/N		A	neutral	1075/4553		getma.org/?cm=msa&ty=f&p=ZN546_HUMAN&rb=267&re=332&var=H287N	tolerated(0.75)	M0R292_HUMAN,M0QXR6_HUMAN			YES	ZNF546,missense_variant,p.His287Asn,ENST00000347077,NM_178544.3;ZNF546,missense_variant,p.His261Asn,ENST00000600094,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,;							MODERATE	859/2511	H287N	ZN546_HUMAN			Transcript		benign(0.214)	.	ENSP00000339823		CCDS12548.1			1	
PRR14L	0	LGGM	GRCh37	22	32099589	32099589	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000327423.6:c.5947G>T	p.Gly1983Cys	p.G1983C	ENST00000327423	NM_173566.2	1983	Ggt/Tgt	0	1	1	UPI0000207582	0	NA	ENST00000327423		ENSG00000183530	28738		38	1.39		HGNC	p.G1983C		PRR14L		SNV							ENST00000397493	protein_coding	getma.org/?cm=var&var=hg19,22,32099589,C,A&fts=all		hmmpanther:PTHR14522,hmmpanther:PTHR14522:SF0		G/C		A	low	6137/10826		getma.org/?cm=msa&ty=f&p=PR14L_HUMAN&rb=1501&re=1999&var=G1983C	deleterious(0.02)	C9J9V0_HUMAN			YES	PRR14L,missense_variant,p.Gly1983Cys,ENST00000327423,NM_173566.2;PRR14L,missense_variant,p.Gly1983Cys,ENST00000434485,;PRR14L,missense_variant,p.Gly1983Cys,ENST00000397493,;PRR14L,missense_variant,p.Gly286Cys,ENST00000330495,;PRR14L,downstream_gene_variant,,ENST00000492705,;PRR14L,missense_variant,p.Gly40Cys,ENST00000432485,;PRR14L,missense_variant,p.Gly652Cys,ENST00000431684,;							MODERATE	5947/6456	G1983C	PR14L_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000331845		CCDS13900.2			1	
RNF40	0	LGGM	GRCh37	16	30780579	30780579	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000324685.6:c.2320C>A	p.Arg774=	p.R774=	ENST00000324685	NM_014771.3	774	Cgg/Agg	0	1	1	UPI000013D2CF	0		ENST00000324685		ENSG00000103549	16867		43			HGNC	p.R466R		RNF40		SNV							ENST00000402121	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23163,hmmpanther:PTHR23163:SF1		R		A		2755/5634				I3L332_HUMAN,H3BUL6_HUMAN,H3BS50_HUMAN,H3BQ99_HUMAN,B4E313_HUMAN			YES	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.=,ENST00000402121,;RNF40,downstream_gene_variant,,ENST00000565995,;RNF40,upstream_gene_variant,,ENST00000567365,;RNF40,non_coding_transcript_exon_variant,,ENST00000493683,;RNF40,upstream_gene_variant,,ENST00000602784,;RNF40,downstream_gene_variant,,ENST00000566703,;RNF40,downstream_gene_variant,,ENST00000564260,;							LOW	2320/3006		BRE1B_HUMAN			Transcript			.	ENSP00000325677		CCDS10691.1			1	
SMPD4	0	LGGM	GRCh37	2	130910654	130910654	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000409031.1:c.2233C>A	p.Arg745Ser	p.R745S	ENST00000409031	NM_017951.4	745	Cgc/Agc	0	1	1	UPI000036FC5A	0	NA	ENST00000409031		ENSG00000136699	32949		34	2.585		HGNC	p.R486S		SMPD4		SNV							ENST00000452225	protein_coding	getma.org/?cm=var&var=hg19,2,130910654,G,T&fts=all		Pfam_domain:PF14724,hmmpanther:PTHR12988		R/S		T	medium	3382/4896		getma.org/?cm=msa&ty=f&p=NSMA3_HUMAN&rb=1&re=825&var=R706S	deleterious(0.05)	C9J647_HUMAN,B1PBA3_HUMAN			YES	SMPD4,missense_variant,p.Arg745Ser,ENST00000409031,NM_017951.4;SMPD4,missense_variant,p.Arg643Ser,ENST00000431183,NM_001171083.2;SMPD4,missense_variant,p.Arg716Ser,ENST00000351288,NM_017751.4;SMPD4,missense_variant,p.Arg620Ser,ENST00000439886,;SMPD4,missense_variant,p.Arg494Ser,ENST00000453750,;SMPD4,missense_variant,p.Arg603Ser,ENST00000339679,;SMPD4,missense_variant,p.Arg409Ser,ENST00000443958,;SMPD4,missense_variant,p.Arg486Ser,ENST00000452225,;SMPD4,missense_variant,p.Arg381Ser,ENST00000426662,;SMPD4,intron_variant,,ENST00000457039,;SMPD4,downstream_gene_variant,,ENST00000430682,;SMPD4,downstream_gene_variant,,ENST00000451542,;SMPD4,downstream_gene_variant,,ENST00000449159,;SMPD4,downstream_gene_variant,,ENST00000473720,;SMPD4,downstream_gene_variant,,ENST00000455548,;SMPD4,3_prime_UTR_variant,,ENST00000412570,;SMPD4,3_prime_UTR_variant,,ENST00000454468,;SMPD4,3_prime_UTR_variant,,ENST00000433118,;SMPD4,non_coding_transcript_exon_variant,,ENST00000482171,;SMPD4,non_coding_transcript_exon_variant,,ENST00000491128,;SMPD4,downstream_gene_variant,,ENST00000435455,;SMPD4,downstream_gene_variant,,ENST00000461187,;SMPD4,downstream_gene_variant,,ENST00000491319,;SMPD4,downstream_gene_variant,,ENST00000439029,;							MODERATE	2233/2601	R706S				Transcript		benign(0.26)	.	ENSP00000386531		CCDS42751.1			1	
MFN2	0	LGGM	GRCh37	1	12064639	12064639	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000235329.5:c.1361C>A	p.Pro454His	p.P454H	ENST00000235329	NM_014874.3	454	cCt/cAt	0	1	1	UPI0000039854	0	NA	ENST00000235329		ENSG00000116688	16877		35	2.525		HGNC	p.P454H		MFN2		SNV			1				ENST00000444836	protein_coding	getma.org/?cm=var&var=hg19,1,12064639,C,A&fts=all		hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF1		P/H		A	medium	1683/4539		getma.org/?cm=msa&ty=f&p=MFN2_HUMAN&rb=260&re=459&var=P454H	deleterious(0)	Q5JXC5_HUMAN			YES	MFN2,missense_variant,p.Pro454His,ENST00000235329,NM_014874.3;MFN2,missense_variant,p.Pro454His,ENST00000444836,NM_001127660.1;							MODERATE	1361/2274	P454H	MFN2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000235329		CCDS30587.1			1	
FUCA1	0	LGGM	GRCh37	1	24175172	24175172	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000374479.3:c.1127G>T	p.Arg376Leu	p.R376L	ENST00000374479	NM_000147.4	376	cGg/cTg	0	1	1	UPI000013F479	0	NA	ENST00000374479		ENSG00000179163	4006		37	3.35		HGNC	p.R376L		FUCA1		SNV			1				ENST00000374479	protein_coding	getma.org/?cm=var&var=hg19,1,24175172,C,A&fts=all		SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Gene3D:2.60.40.1180,hmmpanther:PTHR10030:SF2,hmmpanther:PTHR10030		R/L		A	medium	1135/2047		getma.org/?cm=msa&ty=f&p=FUCO_HUMAN&rb=372&re=466&var=R376L	deleterious(0.04)	B5MDC5_HUMAN			YES	FUCA1,missense_variant,p.Arg376Leu,ENST00000374479,NM_000147.4;							MODERATE	1127/1401	R376L	FUCO_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000363603		CCDS244.2			1	
GRM7	0	LGGM	GRCh37	3	6903497	6903497	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000357716.4:c.422C>A	p.Pro141Gln	p.P141Q	ENST00000357716	NM_000844.3	141	cCg/cAg	0	1	1	UPI000004A7E3	0	getma.org/pdb.php?prot=GRM7_HUMAN&from=77&to=484&var=P141Q	ENST00000357716		ENSG00000196277	4599		24	1.39		HGNC	p.P141Q	COSM94420	GRM7		SNV						1	ENST00000486284	protein_coding	getma.org/?cm=var&var=hg19,3,6903497,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822		P/Q		A	low	696/4127		getma.org/?cm=msa&ty=f&p=GRM7_HUMAN&rb=77&re=484&var=P141Q	tolerated(0.54)	C9JU97_HUMAN			YES	GRM7,missense_variant,p.Pro141Gln,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Pro141Gln,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Pro141Gln,ENST00000389336,;GRM7,missense_variant,p.Pro141Gln,ENST00000402647,;GRM7,missense_variant,p.Pro141Gln,ENST00000403881,;GRM7,intron_variant,,ENST00000448328,;GRM7,missense_variant,p.Pro141Gln,ENST00000467425,;GRM7,missense_variant,p.Pro141Gln,ENST00000440923,;GRM7,missense_variant,p.Pro141Gln,ENST00000389335,;GRM7,intron_variant,,ENST00000443259,;GRM7,upstream_gene_variant,,ENST00000435689,;					1		MODERATE	422/2748	P141Q	GRM7_HUMAN			Transcript		benign(0.283)	.	ENSP00000350348		CCDS43042.1			1	
SYT1	0	LGGM	GRCh37	12	79842829	79842829	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000261205.4:c.1194C>A	p.Pro398=	p.P398=	ENST00000261205	NM_005639.2	398	ccC/ccA	0	1	1	UPI000013669A	0		ENST00000261205		ENSG00000067715	11509		34			HGNC	p.P398P		SYT1		SNV							ENST00000552744	protein_coding			Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF183,hmmpanther:PTHR10024		P		A		1851/4808				F8W1U9_HUMAN,F8VZY3_HUMAN,F8VYH8_HUMAN,F8VP93_HUMAN,C9JX50_HUMAN			YES	SYT1,synonymous_variant,p.=,ENST00000261205,NM_005639.2;SYT1,synonymous_variant,p.=,ENST00000457153,;SYT1,synonymous_variant,p.=,ENST00000393240,NM_001135805.1;SYT1,synonymous_variant,p.=,ENST00000552744,NM_001135806.1;RP1-78O14.1,intron_variant,,ENST00000550268,;RP1-78O14.1,intron_variant,,ENST00000553165,;RP1-78O14.1,intron_variant,,ENST00000549527,;							LOW	1194/1269		SYT1_HUMAN			Transcript			.	ENSP00000261205		CCDS9017.1			1	
THBS4	0	LGGM	GRCh37	5	79354542	79354542	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000350881.2:c.661C>A	p.Arg221=	p.R221=	ENST00000350881	NM_003248.4	221	Cgg/Agg	0	1	1	UPI000013D591	0		ENST00000350881		ENSG00000113296	11788		37			HGNC	p.R221R		THBS4		SNV							ENST00000350881	protein_coding			Superfamily_domains:0053531,Gene3D:1.20.5.10,Pfam_domain:PF11598,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF4		R		A		851/3222				E7ES19_HUMAN			YES	THBS4,synonymous_variant,p.=,ENST00000350881,NM_003248.4;THBS4,synonymous_variant,p.=,ENST00000511733,;CTD-2201I18.1,intron_variant,,ENST00000503007,;THBS4,downstream_gene_variant,,ENST00000513310,;THBS4,downstream_gene_variant,,ENST00000510218,;							LOW	661/2886		TSP4_HUMAN			Transcript			.	ENSP00000339730		CCDS4049.1			1	
ZKSCAN5	0	LGGM	GRCh37	7	99129267	99129267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000394170.2:c.1915G>T	p.Gly639Trp	p.G639W	ENST00000394170	NM_014569.3	639	Ggg/Tgg	0	1		UPI000013C3AC	0	getma.org/pdb.php?prot=ZKSC5_HUMAN&from=619&to=644&var=G639W	ENST00000326775		ENSG00000196652	12867		22	3.15		HGNC	p.G639W		ZKSCAN5		SNV							ENST00000451158	protein_coding	getma.org/?cm=var&var=hg19,7,99129267,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF214,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		T	medium	2038/4178		getma.org/?cm=msa&ty=f&p=ZKSC5_HUMAN&rb=599&re=664&var=G639W	deleterious(0)	Q75MV2_HUMAN,J7M2L3_HUMAN,J7M2K9_HUMAN				ZKSCAN5,missense_variant,p.Gly639Trp,ENST00000394170,NM_014569.3;ZKSCAN5,missense_variant,p.Gly639Trp,ENST00000326775,NM_145102.2;ZKSCAN5,missense_variant,p.Gly639Trp,ENST00000451158,;ZKSCAN5,3_prime_UTR_variant,,ENST00000454175,;							MODERATE	1915/2520	G639W	ZKSC5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322872		CCDS5667.1			1	
TNS3	0	LGGM	GRCh37	7	47453542	47453542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000398879.1:c.640G>T	p.Gly214Trp	p.G214W	ENST00000398879		214	Ggg/Tgg	0	1		UPI00001AE9DA	0	getma.org/pdb.php?prot=TENS3_HUMAN&from=173&to=300&var=G214W	ENST00000311160		ENSG00000136205	21616		47	2.85		HGNC	p.G214W	rs780395262	TNS3		SNV							ENST00000311160	protein_coding	getma.org/?cm=var&var=hg19,7,47453542,C,A&fts=all		Gene3D:1d5rA02,Pfam_domain:PF10409,PROSITE_profiles:PS51182,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF41,Superfamily_domains:SSF49562		G/W		A	medium	998/7618	1.51E-05	getma.org/?cm=msa&ty=f&p=TENS3_HUMAN&rb=173&re=300&var=G214W	deleterious(0)	C9JWN9_HUMAN,C9JTD0_HUMAN				TNS3,missense_variant,p.Gly214Trp,ENST00000398879,;TNS3,missense_variant,p.Gly214Trp,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Gly214Trp,ENST00000355730,;TNS3,missense_variant,p.Gly317Trp,ENST00000457718,;TNS3,missense_variant,p.Gly303Trp,ENST00000450444,;TNS3,missense_variant,p.Gly214Trp,ENST00000442536,;TNS3,missense_variant,p.Gly214Trp,ENST00000458317,;							MODERATE	640/4338	G214W	TENS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312143	8.25E-06	CCDS5506.2			1	
FAM188A	0	LGGM	GRCh37	10	15821107	15821107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000277632.3:c.1222G>T	p.Gly408Cys	p.G408C	ENST00000277632	NM_024948.2	408	Ggt/Tgt	0	1	1	UPI000006E7F1	0	NA	ENST00000277632		ENSG00000148481	23578		42	1.5		HGNC	p.G408C		FAM188A		SNV							ENST00000277632	protein_coding	getma.org/?cm=var&var=hg19,10,15821107,C,A&fts=all		hmmpanther:PTHR12473		G/C		A	low	1443/2381		getma.org/?cm=msa&ty=f&p=F188A_HUMAN&rb=317&re=445&var=G408C	deleterious(0.04)				YES	FAM188A,missense_variant,p.Gly113Cys,ENST00000378036,;FAM188A,missense_variant,p.Gly408Cys,ENST00000277632,NM_024948.2;FAM188A,non_coding_transcript_exon_variant,,ENST00000477891,;FAM188A,non_coding_transcript_exon_variant,,ENST00000476912,;							MODERATE	1222/1338	G408C	F188A_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000277632		CCDS7110.1			1	
CACNA2D2	0	LGGM	GRCh37	3	50413304	50413304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000479441.1:c.1781G>T	p.Arg594Leu	p.R594L	ENST00000479441		594	cGg/cTg	0	1	1	UPI0000E5A6AF	0	NA	ENST00000479441		ENSG00000007402	1400		16	1.995		HGNC	p.R594L		CACNA2D2		SNV							ENST00000479441	protein_coding	getma.org/?cm=var&var=hg19,3,50413304,C,A&fts=all		hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166,Pfam_domain:PF08473,Gene3D:3.30.450.20		R/L		A	medium	1781/3453		getma.org/?cm=msa&ty=f&p=CA2D2_HUMAN&rb=580&re=673&var=R594L	deleterious(0.01)				YES	CACNA2D2,missense_variant,p.Arg594Leu,ENST00000435965,;CACNA2D2,missense_variant,p.Arg594Leu,ENST00000395083,;CACNA2D2,missense_variant,p.Arg594Leu,ENST00000266039,;CACNA2D2,missense_variant,p.Arg594Leu,ENST00000423994,NM_001174051.1;CACNA2D2,missense_variant,p.Arg594Leu,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,missense_variant,p.Arg525Leu,ENST00000360963,;CACNA2D2,missense_variant,p.Arg594Leu,ENST00000424201,;CACNA2D2,missense_variant,p.Arg594Leu,ENST00000479441,;							MODERATE	1781/3453	R594L	CA2D2_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000418081		CCDS54588.1			1	
P2RX3	0	LGGM	GRCh37	11	57114657	57114657	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000263314.2:c.323C>A	p.Pro108Gln	p.P108Q	ENST00000263314	NM_002559.3	108	cCa/cAa	0	1	1	UPI00000342EB	0	getma.org/pdb.php?prot=P2RX3_HUMAN&from=8&to=374&var=P108Q	ENST00000263314		ENSG00000109991	8534		26	2.65		HGNC	p.P108Q		P2RX3		SNV							ENST00000263314	protein_coding	getma.org/?cm=var&var=hg19,11,57114657,C,A&fts=all		Gene3D:3h9vA02,Pfam_domain:PF00864,hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF8,TIGRFAM_domain:TIGR00863		P/Q		A	medium	357/1831		getma.org/?cm=msa&ty=f&p=P2RX3_HUMAN&rb=8&re=374&var=P108Q	deleterious(0)	H0YDR6_HUMAN			YES	P2RX3,missense_variant,p.Pro108Gln,ENST00000263314,NM_002559.3;P2RX3,upstream_gene_variant,,ENST00000534820,;							MODERATE	323/1194	P108Q	P2RX3_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000263314		CCDS7953.1			1	
RNF19A	0	LGGM	GRCh37	8	101273867	101273867	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	4	.	.	ENST00000519449.1:c.1585C>A	p.Arg529=	p.R529=	ENST00000519449	NM_015435.4	529	Cga/Aga	0	1		UPI000013D5E6	0		ENST00000341084		ENSG00000034677	13432		42			HGNC	p.R529R		RNF19A		SNV							ENST00000341084	protein_coding			hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF111		R		T		2139/4285				E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN				RNF19A,synonymous_variant,p.=,ENST00000519449,NM_015435.4,NM_001280539.1;RNF19A,synonymous_variant,p.=,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,;							LOW	1585/2517		RN19A_HUMAN			Transcript			.	ENSP00000342667		CCDS6286.1			1	
C1QTNF7	0	LGGM	GRCh37	4	15444361	15444361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000295297.4:c.829G>T	p.Gly277Trp	p.G277W	ENST00000295297	NM_001135170.1	277	Ggg/Tgg	0	1		UPI0000001077	0	getma.org/pdb.php?prot=C1QT7_HUMAN&from=149&to=273&var=G270W	ENST00000429690		ENSG00000163145	14342		47	3.77		HGNC	p.G277W		C1QTNF7		SNV							ENST00000295297	protein_coding	getma.org/?cm=var&var=hg19,4,15444361,G,T&fts=all		Gene3D:2.60.120.40,Pfam_domain:PF00386,Prints_domain:PR00007,PROSITE_profiles:PS50871,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF15,SMART_domains:SM00110,Superfamily_domains:SSF49842		G/W		T	high	1035/4464		getma.org/?cm=msa&ty=f&p=C1QT7_HUMAN&rb=149&re=273&var=G270W	deleterious(0)	J3KPK0_HUMAN				C1QTNF7,missense_variant,p.Gly277Trp,ENST00000295297,NM_001135170.1;C1QTNF7,missense_variant,p.Gly270Trp,ENST00000429690,NM_001135171.1,NM_031911.4;C1QTNF7,missense_variant,p.Gly270Trp,ENST00000444304,;C1QTNF7,downstream_gene_variant,,ENST00000397700,;C1QTNF7,downstream_gene_variant,,ENST00000382383,;							MODERATE	808/870	G270W	C1QT7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000410722		CCDS3414.1			1	
GATA3	0	LGGM	GRCh37	10	8100494	8100494	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000346208.3:c.468C>A	p.Thr156=	p.T156=	ENST00000346208		156	acC/acA	0	1		UPI000004904B	0		ENST00000346208		ENSG00000107485	4172	8.72E-05	11			HGNC	p.T156T	rs775381986	GATA3		SNV			1				ENST00000379328	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10071:SF106,hmmpanther:PTHR10071,PIRSF_domain:PIRSF003027		T		A		923/2654								GATA3,synonymous_variant,p.=,ENST00000379328,NM_001002295.1,NM_002051.2;GATA3,synonymous_variant,p.=,ENST00000346208,;GATA3,non_coding_transcript_exon_variant,,ENST00000461472,;GATA3,downstream_gene_variant,,ENST00000481743,;							LOW	468/1332		GATA3_HUMAN			Transcript			.	ENSP00000341619	8.26E-06	CCDS7083.1			1	
DAK	0	LGGM	GRCh37	11	61113189	61113189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000394900.3:c.1457G>T	p.Gly486Val	p.G486V	ENST00000394900	NM_015533.3	486	gGc/gTc	0	1	1	UPI00000718B9	0	getma.org/pdb.php?prot=DHAK_HUMAN&from=398&to=571&var=G486V	ENST00000394900		ENSG00000149476	24552		37	3.715		HGNC	p.G486V		DAK		SNV							ENST00000394900	protein_coding	getma.org/?cm=var&var=hg19,11,61113189,G,T&fts=all		PROSITE_profiles:PS51480,TIGRFAM_domain:TIGR02361,Pfam_domain:PF02734,Superfamily_domains:SSF101473		G/V		T	high	1686/4696		getma.org/?cm=msa&ty=f&p=DHAK_HUMAN&rb=398&re=571&var=G486V	deleterious(0)	E9PQR1_HUMAN,E9PJG8_HUMAN			YES	DAK,missense_variant,p.Gly486Val,ENST00000394900,NM_015533.3;DAK,missense_variant,p.Gly485Val,ENST00000529479,;DAK,missense_variant,p.Gly137Val,ENST00000534084,;CYB561A3,downstream_gene_variant,,ENST00000546151,;CYB561A3,downstream_gene_variant,,ENST00000426130,NM_001161454.1;CYB561A3,downstream_gene_variant,,ENST00000294072,NM_153611.4,NM_001161452.1;CYB561A3,downstream_gene_variant,,ENST00000447532,;CYB561A3,downstream_gene_variant,,ENST00000544118,;CYB561A3,downstream_gene_variant,,ENST00000536915,;CYB561A3,downstream_gene_variant,,ENST00000539890,;CYB561A3,downstream_gene_variant,,ENST00000540317,;DAK,non_coding_transcript_exon_variant,,ENST00000525366,;DAK,non_coding_transcript_exon_variant,,ENST00000524440,;DAK,non_coding_transcript_exon_variant,,ENST00000530329,;DDB1,upstream_gene_variant,,ENST00000540166,;CYB561A3,downstream_gene_variant,,ENST00000536452,;CYB561A3,downstream_gene_variant,,ENST00000540755,;DAK,downstream_gene_variant,,ENST00000534134,;DAK,downstream_gene_variant,,ENST00000524953,;DAK,downstream_gene_variant,,ENST00000528061,;DAK,downstream_gene_variant,,ENST00000533853,;DAK,downstream_gene_variant,,ENST00000534370,;							MODERATE	1457/1728	G486V	DHAK_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000378360		CCDS8003.1			1	
DCST2	0	LGGM	GRCh37	1	155004157	155004157	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	4	.	.	ENST00000368424.3:c.632G>T	p.Arg211Leu	p.R211L	ENST00000368424	NM_144622.2	211	cGg/cTg	0	1	1	UPI0000D959B3	0	NA	ENST00000368424		ENSG00000163354	26562		22	0.805		HGNC	p.R211L		DCST2		SNV							ENST00000485982	protein_coding	getma.org/?cm=var&var=hg19,1,155004157,C,A&fts=all		hmmpanther:PTHR21041,hmmpanther:PTHR21041:SF1		R/L		A	low	691/2392		getma.org/?cm=msa&ty=f&p=DCST2_HUMAN&rb=201&re=353&var=R211L	deleterious(0.03)	Q8N1J0_HUMAN			YES	DCST2,missense_variant,p.Arg211Leu,ENST00000368424,NM_144622.2;DCST2,missense_variant,p.Arg211Leu,ENST00000295536,;DCST1,upstream_gene_variant,,ENST00000295542,NM_152494.3;DCST1,upstream_gene_variant,,ENST00000368419,;DCST1,upstream_gene_variant,,ENST00000423025,NM_001143687.2;DCST1,upstream_gene_variant,,ENST00000392480,;DCST2,missense_variant,p.Arg211Leu,ENST00000485982,;DCST2,upstream_gene_variant,,ENST00000368423,;DCST1,upstream_gene_variant,,ENST00000525273,;DCST1,upstream_gene_variant,,ENST00000368420,;DCST2,upstream_gene_variant,,ENST00000498036,;							MODERATE	632/2322	R211L	DCST2_HUMAN			Transcript		benign(0.091)	.	ENSP00000357409		CCDS1082.2			1	
SLMAP	0	LGGM	GRCh37	3	57913043	57913043	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000295951.3:c.2364C>A	p.Pro788=	p.P788=	ENST00000295951		788	ccC/ccA	0	1		UPI00005796CD	0		ENST00000428312		ENSG00000163681	16643		19			HGNC	p.P805P		SLMAP		SNV			1				ENST00000428312	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF8		P		A		2509/4132				C9JA20_HUMAN,B7Z964_HUMAN				SLMAP,synonymous_variant,p.=,ENST00000295951,;SLMAP,synonymous_variant,p.=,ENST00000295952,NM_007159.2;SLMAP,synonymous_variant,p.=,ENST00000428312,;SLMAP,synonymous_variant,p.=,ENST00000449503,;SLMAP,synonymous_variant,p.=,ENST00000495364,;SLMAP,synonymous_variant,p.=,ENST00000442599,;SLMAP,3_prime_UTR_variant,,ENST00000417128,;SLMAP,3_prime_UTR_variant,,ENST00000416658,;SLMAP,3_prime_UTR_variant,,ENST00000494088,;SLMAP,3_prime_UTR_variant,,ENST00000460223,;SLMAP,downstream_gene_variant,,ENST00000497084,;							LOW	2415/2487		SLMAP_HUMAN			Transcript			.	ENSP00000398661					1	
NVL	0	LGGM	GRCh37	1	224424281	224424281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	4	.	.	ENST00000281701.6:c.2293G>T	p.Gly765Cys	p.G765C	ENST00000281701	NM_002533.3	765	Ggt/Tgt	0	1	1	UPI0000073F3E	0	getma.org/pdb.php?prot=NVL_HUMAN&from=749&to=856&var=G765C	ENST00000281701		ENSG00000143748	8070		31	1.935		HGNC	p.G576C		NVL		SNV							ENST00000340871	protein_coding	getma.org/?cm=var&var=hg19,1,224424281,C,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55,Superfamily_domains:SSF52540		G/C		A	medium	2553/3123		getma.org/?cm=msa&ty=f&p=NVL_HUMAN&rb=749&re=856&var=G765C	deleterious(0.02)	Q96PA2_HUMAN			YES	NVL,missense_variant,p.Gly765Cys,ENST00000281701,NM_002533.3;NVL,missense_variant,p.Gly659Cys,ENST00000391875,NM_206840.2;NVL,missense_variant,p.Gly674Cys,ENST00000469075,NM_001243147.1;NVL,missense_variant,p.Gly648Cys,ENST00000469968,;NVL,missense_variant,p.Gly489Cys,ENST00000482491,;NVL,missense_variant,p.Gly576Cys,ENST00000340871,NM_001243146.1;NVL,3_prime_UTR_variant,,ENST00000361463,;NVL,non_coding_transcript_exon_variant,,ENST00000489194,;NVL,non_coding_transcript_exon_variant,,ENST00000483094,;NVL,non_coding_transcript_exon_variant,,ENST00000493060,;NVL,non_coding_transcript_exon_variant,,ENST00000496393,;NVL,upstream_gene_variant,,ENST00000481213,;							MODERATE	2293/2571	G765C	NVL_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000281701		CCDS1541.1			1	
PRICKLE3	0	LGGM	GRCh37	X	49034515	49034515	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000376317.3:c.782C>A	p.Pro261His	p.P261H	ENST00000376317	NM_006150.3	261	cCt/cAt	0	1	1	UPI000004B120	0	getma.org/pdb.php?prot=PRIC3_HUMAN&from=251&to=307&var=P261H	ENST00000376317		ENSG00000012211	6645		11	0.16		HGNC	p.P193H		PRICKLE3		SNV							ENST00000540849	protein_coding	getma.org/?cm=var&var=hg19,X,49034515,G,T&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24218,PROSITE_patterns:PS00478,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716		P/H		T	neutral	877/2814		getma.org/?cm=msa&ty=f&p=PRIC3_HUMAN&rb=251&re=307&var=P261H	tolerated(0.13)	F5H4N2_HUMAN			YES	PRICKLE3,missense_variant,p.Pro261His,ENST00000376317,NM_006150.3;PRICKLE3,missense_variant,p.Pro180His,ENST00000536904,;PRICKLE3,missense_variant,p.Pro193His,ENST00000540849,;PRICKLE3,missense_variant,p.Pro274His,ENST00000453382,;PRICKLE3,missense_variant,p.Pro248His,ENST00000538114,;PRICKLE3,missense_variant,p.Pro272His,ENST00000432913,;PLP2,downstream_gene_variant,,ENST00000376327,NM_002668.2;PRICKLE3,downstream_gene_variant,,ENST00000376310,;PLP2,downstream_gene_variant,,ENST00000376322,;							MODERATE	782/1848	P261H	PRIC3_HUMAN			Transcript		benign(0.029)	.	ENSP00000365494		CCDS14320.1			1	
TIAM1	0	LGGM	GRCh37	21	32519229	32519229	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000286827.3:c.3459C>A	p.Pro1153=	p.P1153=	ENST00000286827	NM_003253.2	1153	ccC/ccA	0	1	1	UPI000013DE6F	0		ENST00000286827		ENSG00000156299	11805		23			HGNC	p.P1093P		TIAM1		SNV							ENST00000541036	protein_coding			Superfamily_domains:SSF48065,SMART_domains:SM00325,Pfam_domain:PF00621,Gene3D:1.20.900.10,hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826,PROSITE_profiles:PS50010		P		T		3931/7200				C9JMB5_HUMAN			YES	TIAM1,synonymous_variant,p.=,ENST00000286827,NM_003253.2;TIAM1,synonymous_variant,p.=,ENST00000541036,;							LOW	3459/4776		TIAM1_HUMAN			Transcript			.	ENSP00000286827		CCDS13609.1			1	
NEB	0	LGGM	GRCh37	2	152357906	152357906	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	4	.	.	ENST00000397345.3:c.24020C>A	p.Ser8007Ter	p.S8007*	ENST00000397345	NM_001164508.1	8007	tCg/tAg	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		63	0		HGNC	p.S8007X		NEB		SNV			1				ENST00000427231	protein_coding	getma.org/?cm=var&var=hg19,2,152357906,G,T&fts=all						T	NA	-/20577		NA		J3QK84_HUMAN				NEB,stop_gained,p.Ser8007Ter,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,stop_gained,p.Ser8007Ter,ENST00000397345,NM_001164508.1;NEB,stop_gained,p.Ser8007Ter,ENST00000603639,;NEB,stop_gained,p.Ser8007Ter,ENST00000604864,;NEB,stop_gained,p.Ser184Ter,ENST00000421461,;NEB,intron_variant,,ENST00000409198,NM_004543.4;NEB,intron_variant,,ENST00000172853,;NEB,intron_variant,,ENST00000413693,;NEB,intron_variant,,ENST00000397337,;NEB,intron_variant,,ENST00000434685,;NEB,intron_variant,,ENST00000397336,;NEB,intron_variant,,ENST00000509223,;NEB,intron_variant,,ENST00000424585,;NEB,intron_variant,,ENST00000498015,;RIF1,downstream_gene_variant,,ENST00000457745,;RIF1,downstream_gene_variant,,ENST00000484077,;RIF1,upstream_gene_variant,,ENST00000467762,;RIF1,intron_variant,,ENST00000454583,;							MODIFIER	-/20010	S8007*				Transcript			.	ENSP00000172853					1	
PCDHGA6	0	LGGM	GRCh37	5	140755858	140755858	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000517434.1:c.2208C>A	p.Pro736=	p.P736=	ENST00000517434	NM_018919.2	736	ccC/ccA	0	1	1	UPI00000715C8	0		ENST00000517434		ENSG00000253731	8704		46			HGNC	p.P736P		PCDHGA6		SNV							ENST00000517434	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107		P		A		2208/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA6,synonymous_variant,p.=,ENST00000517434,NM_018919.2,NM_032086.1;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;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;							LOW	2208/2799		PCDG6_HUMAN			Transcript			.	ENSP00000429601		CCDS54926.1			1	
COPE	0	LGGM	GRCh37	19	19023832	19023832	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	4	.	.	ENST00000262812.4:c.150G>T	p.Val50=	p.V50=	ENST00000262812	NM_007263.3	50	gtG/gtT	0	1	1	UPI000013D334	0		ENST00000262812		ENSG00000105669	2234		16			HGNC	p.V50V		COPE		SNV							ENST00000262812	protein_coding			hmmpanther:PTHR10805:SF0,hmmpanther:PTHR10805,Pfam_domain:PF04733,PIRSF_domain:PIRSF016478		V		A		199/1141							YES	COPE,synonymous_variant,p.=,ENST00000600932,;COPE,synonymous_variant,p.=,ENST00000262812,NM_007263.3;COPE,synonymous_variant,p.=,ENST00000349893,NM_199444.1;COPE,synonymous_variant,p.=,ENST00000351079,NM_199442.1;COPE,non_coding_transcript_exon_variant,,ENST00000598969,;COPE,non_coding_transcript_exon_variant,,ENST00000597646,;COPE,non_coding_transcript_exon_variant,,ENST00000599964,;COPE,synonymous_variant,p.=,ENST00000593827,;AC002985.3,3_prime_UTR_variant,,ENST00000596918,;AC002985.3,3_prime_UTR_variant,,ENST00000593484,;COPE,non_coding_transcript_exon_variant,,ENST00000597026,;							LOW	150/927		COPE_HUMAN			Transcript			.	ENSP00000262812		CCDS12387.1			1	
STRADA	0	LGGM	GRCh37	17	61784729	61784729	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000336174.6:c.631C>A	p.Leu211Met	p.L211M	ENST00000336174	NM_001003787.2	211	Ctg/Atg	0	1	1	UPI000013CBBE	0	getma.org/pdb.php?prot=STRAA_HUMAN&from=69&to=379&var=L211M	ENST00000336174		ENSG00000266173	30172		15	3.235		HGNC	p.L153M		STRADA		SNV			1				ENST00000375840	protein_coding	getma.org/?cm=var&var=hg19,17,61784729,G,T&fts=all		Superfamily_domains:SSF56112,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24361:SF248,hmmpanther:PTHR24361,PROSITE_profiles:PS50011		L/M		T	medium	744/2143		getma.org/?cm=msa&ty=f&p=STRAA_HUMAN&rb=69&re=379&var=L211M	tolerated(0.09)	J3QRC1_HUMAN,J3QKU4_HUMAN,J3QKR7_HUMAN			YES	STRADA,missense_variant,p.Leu153Met,ENST00000245865,;STRADA,missense_variant,p.Leu174Met,ENST00000392950,NM_153335.5,NM_001165969.1,NM_001003786.2;STRADA,missense_variant,p.Leu211Met,ENST00000336174,NM_001003787.2;STRADA,missense_variant,p.Leu153Met,ENST00000375840,NM_001003788.2;STRADA,missense_variant,p.Leu167Met,ENST00000447001,NM_001165970.1;STRADA,missense_variant,p.Leu182Met,ENST00000582137,;STRADA,missense_variant,p.Leu83Met,ENST00000578008,;STRADA,intron_variant,,ENST00000579340,;STRADA,intron_variant,,ENST00000578801,;STRADA,upstream_gene_variant,,ENST00000582026,;STRADA,downstream_gene_variant,,ENST00000580338,;STRADA,non_coding_transcript_exon_variant,,ENST00000580039,;STRADA,downstream_gene_variant,,ENST00000581505,;RP11-51F16.8,3_prime_UTR_variant,,ENST00000580553,;STRADA,3_prime_UTR_variant,,ENST00000581243,;STRADA,upstream_gene_variant,,ENST00000583085,;STRADA,downstream_gene_variant,,ENST00000577375,;							MODERATE	631/1296	L211M	STRAA_HUMAN			Transcript		benign(0.124)	.	ENSP00000336655		CCDS32703.1			1	
DQX1	0	LGGM	GRCh37	2	74746339	74746339	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	4	.	.	ENST00000404568.3:c.1825G>T	p.Gly609Trp	p.G609W	ENST00000404568	NM_133637.2	609	Ggg/Tgg	0	1		UPI0000208758	0	getma.org/pdb.php?prot=DQX1_HUMAN&from=564&to=674&var=G609W	ENST00000393951		ENSG00000144045	20410		26	2.72		HGNC	p.G609W		DQX1		SNV							ENST00000393951	protein_coding	getma.org/?cm=var&var=hg19,2,74746339,C,A&fts=all		Pfam_domain:PF07717,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934		G/W		A	medium	1896/2540		getma.org/?cm=msa&ty=f&p=DQX1_HUMAN&rb=564&re=674&var=G609W	deleterious(0)	C9J0W1_HUMAN				DQX1,missense_variant,p.Gly609Trp,ENST00000404568,NM_133637.2;DQX1,missense_variant,p.Gly609Trp,ENST00000393951,;TLX2,downstream_gene_variant,,ENST00000233638,NM_016170.4;DQX1,downstream_gene_variant,,ENST00000451518,;TLX2,downstream_gene_variant,,ENST00000497238,;DQX1,downstream_gene_variant,,ENST00000495597,;DQX1,3_prime_UTR_variant,,ENST00000418139,;DQX1,downstream_gene_variant,,ENST00000473508,;DQX1,downstream_gene_variant,,ENST00000483555,;TLX2,downstream_gene_variant,,ENST00000464417,;							MODERATE	1825/2154	G609W	DQX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377523		CCDS1949.2			1	
SLC6A15	0	LGGM	GRCh37	12	85277687	85277687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	4	.	.	ENST00000266682.5:c.707G>T	p.Trp236Leu	p.W236L	ENST00000266682	NM_182767.5	236	tGg/tTg	0	1	1	UPI0000038BF2	0	getma.org/pdb.php?prot=S6A15_HUMAN&from=61&to=644&var=W236L	ENST00000266682		ENSG00000072041	13621		39	3.245		HGNC	p.W236L		SLC6A15		SNV							ENST00000450363	protein_coding	getma.org/?cm=var&var=hg19,12,85277687,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687		W/L		A	medium	1249/4044		getma.org/?cm=msa&ty=f&p=S6A15_HUMAN&rb=61&re=644&var=W236L	deleterious(0)	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN			YES	SLC6A15,missense_variant,p.Trp236Leu,ENST00000450363,NM_018057.6;SLC6A15,missense_variant,p.Trp236Leu,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Trp129Leu,ENST00000552192,NM_001146335.2;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,downstream_gene_variant,,ENST00000547240,;							MODERATE	707/2193	W236L	S6A15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266682		CCDS9026.1			1	
ZNF516	0	LGGM	GRCh37	18	74091419	74091419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000443185.2:c.2651G>T	p.Gly884Val	p.G884V	ENST00000443185	NM_014643.3	884	gGg/gTg	0	1	1	UPI00001394A1	0		ENST00000443185		ENSG00000101493	28990		17			HGNC	p.G884V		ZNF516		SNV							ENST00000443185	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3		G/V		A		2969/8619			deleterious(0)	F5H2K2_HUMAN			YES	ZNF516,missense_variant,p.Gly884Val,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,;							MODERATE	2651/3492		ZN516_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000394757					1	
ATP2B2	0	LGGM	GRCh37	3	10452492	10452492	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	4	.	.	ENST00000360273.2:c.207G>T	p.Pro69=	p.P69=	ENST00000360273	NM_001001331.2	69	ccG/ccT	0	1		UPI00001261EF	0		ENST00000352432		ENSG00000157087	815		61			HGNC	p.P69P		ATP2B2		SNV							ENST00000352432	protein_coding			Superfamily_domains:0049473,Gene3D:2.70.150.10,Pfam_domain:PF00690,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF247,SMART_domains:SM00831		P		A		277/8593				Q4J699_HUMAN,Q4J696_HUMAN				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,upstream_gene_variant,,ENST00000452124,;ATP2B2,synonymous_variant,p.=,ENST00000460129,;ATP2B2,non_coding_transcript_exon_variant,,ENST00000480680,;							LOW	207/3732		AT2B2_HUMAN			Transcript			.	ENSP00000324172		CCDS33701.1			1	
FUT1	0	LGGM	GRCh37	19	49254074	49254074	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	4	.	.	ENST00000310160.3:c.465G>T	p.Ala155=	p.A155=	ENST00000310160	NM_000148.3	155	gcG/gcT	0	1	1	UPI00000338F8	0		ENST00000310160		ENSG00000174951	4012		33			HGNC	p.A155A		FUT1		SNV			1				ENST00000310160	protein_coding			Pfam_domain:PF01531,hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4		A		A		1440/4246				Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN			YES	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,;							LOW	465/1098		FUT1_HUMAN			Transcript			.	ENSP00000312021		CCDS12733.1			1	
PSMC3	0	LGGM	GRCh37	11	47444203	47444203	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000298852.3:c.806G>T	p.Arg269Leu	p.R269L	ENST00000298852	NM_002804.4	269	cGg/cTg	0	1	1	UPI0000132389	0	getma.org/pdb.php?prot=PRS6A_HUMAN&from=223&to=356&var=R269L	ENST00000298852		ENSG00000165916	9549		47	3.265		HGNC	p.R213L		PSMC3		SNV							ENST00000531051	protein_coding	getma.org/?cm=var&var=hg19,11,47444203,C,A&fts=all		hmmpanther:PTHR23073,hmmpanther:PTHR23073:SF7,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540		R/L		A	medium	964/1544		getma.org/?cm=msa&ty=f&p=PRS6A_HUMAN&rb=223&re=356&var=R269L	deleterious(0)	R4GNH3_HUMAN			YES	PSMC3,missense_variant,p.Arg269Leu,ENST00000298852,NM_002804.4;PSMC3,missense_variant,p.Arg227Leu,ENST00000530912,;PSMC3,missense_variant,p.Arg253Leu,ENST00000602866,;PSMC3,missense_variant,p.Arg230Leu,ENST00000524447,;PSMC3,missense_variant,p.Arg276Leu,ENST00000530651,;PSMC3,missense_variant,p.Arg234Leu,ENST00000531051,;PSMC3,downstream_gene_variant,,ENST00000526993,;PSMC3,3_prime_UTR_variant,,ENST00000530887,;PSMC3,downstream_gene_variant,,ENST00000527906,;PSMC3,downstream_gene_variant,,ENST00000529500,;PSMC3,downstream_gene_variant,,ENST00000528362,;PSMC3,downstream_gene_variant,,ENST00000531653,;							MODERATE	806/1320	R269L	PRS6A_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000298852		CCDS7935.1			1	
RHOBTB2	0	LGGM	GRCh37	8	22864596	22864596	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4	.	.	ENST00000519685.1:c.904G>T	p.Ala302Ser	p.A302S	ENST00000519685	NM_001160036.1	302	Gcc/Tcc	0	1		UPI000013342C	0	NA	ENST00000251822		ENSG00000008853	18756		32	2.14		HGNC	p.A287S		RHOBTB2		SNV							ENST00000522948	protein_coding	getma.org/?cm=var&var=hg19,8,22864596,G,T&fts=all		Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF137,PROSITE_profiles:PS50097		A/S		T	medium	1375/5451		getma.org/?cm=msa&ty=f&p=RHBT2_HUMAN&rb=266&re=442&var=A280S	deleterious(0)					RHOBTB2,missense_variant,p.Ala280Ser,ENST00000251822,NM_015178.2;RHOBTB2,missense_variant,p.Ala287Ser,ENST00000522948,NM_001160037.1;RHOBTB2,missense_variant,p.Ala302Ser,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,;							MODERATE	838/2184	A280S	RHBT2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000251822		CCDS6034.1			1	
ACTG2	0	LGGM	GRCh37	2	74143868	74143868	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	4	.	.	ENST00000409624.1:c.963G>T	p.Leu321=	p.L321=	ENST00000409624		321	ctG/ctT	0	1		UPI0000000CCB	0		ENST00000345517		ENSG00000163017	145		23			HGNC	p.L321L		ACTG2		SNV			1				ENST00000345517	protein_coding			hmmpanther:PTHR11937:SF197,hmmpanther:PTHR11937,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		L		T		1072/1530				Q562S2_HUMAN				ACTG2,synonymous_variant,p.=,ENST00000409624,;ACTG2,synonymous_variant,p.=,ENST00000345517,NM_001615.3;ACTG2,synonymous_variant,p.=,ENST00000409731,NM_001199893.1;ACTG2,3_prime_UTR_variant,,ENST00000438902,;ACTG2,downstream_gene_variant,,ENST00000429756,;							LOW	963/1131		ACTH_HUMAN			Transcript			.	ENSP00000295137		CCDS1930.1			1	
CDH26	0	LGGM	GRCh37	20	58608650	58608650	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	4	.	.	ENST00000244047.5:c.2478C>A	p.Pro826=	p.P826=	ENST00000244047		826	ccC/ccA	0	1	1	UPI000156542B	0		ENST00000244047		ENSG00000124215	15902		18			HGNC	p.P826P		CDH26		SNV							ENST00000244047	protein_coding					P		A		2789/2870								CDH26,synonymous_variant,p.=,ENST00000244047,;CDH26,synonymous_variant,p.=,ENST00000370991,;							LOW	2478/2559		CAD26_HUMAN			Transcript			.	ENSP00000244047					1	
AIM1L	0	LGGM	GRCh37	1	26663841	26663841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000527815.1:c.1052G>T	p.Arg351Leu	p.R351L	ENST00000527815	NM_001039775.3	351	cGg/cTg	0	1		UPI000006F870	0	getma.org/pdb.php?prot=AIM1L_HUMAN&from=124&to=210&var=R180L	ENST00000308182		ENSG00000176092	17295		20	2.41		HGNC	p.R180L		AIM1L		SNV							ENST00000308182	protein_coding	getma.org/?cm=var&var=hg19,1,26663841,C,A&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF50,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367		R/L		A	medium	969/2390		getma.org/?cm=msa&ty=f&p=AIM1L_HUMAN&rb=124&re=210&var=R180L	deleterious(0.01)					AIM1L,missense_variant,p.Arg351Leu,ENST00000527815,NM_001039775.3;AIM1L,missense_variant,p.Arg180Leu,ENST00000308182,;AIM1L,missense_variant,p.Arg118Leu,ENST00000429942,;AIM1L,non_coding_transcript_exon_variant,,ENST00000522993,;AIM1L,upstream_gene_variant,,ENST00000522923,;AIM1L,upstream_gene_variant,,ENST00000520372,;							MODERATE	539/1851	R180L	AIM1L_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000310435					1	
SYNJ2	0	LGGM	GRCh37	6	158497782	158497782	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	4	.	.	ENST00000355585.4:c.2417G>T	p.Trp806Leu	p.W806L	ENST00000355585	NM_001178088.1	806	tGg/tTg	0	1	1	UPI000006E2F8	0	getma.org/pdb.php?prot=SYNJ2_HUMAN&from=535&to=855&var=W806L	ENST00000355585		ENSG00000078269	11504		19	3		HGNC	p.W806L		SYNJ2		SNV							ENST00000355585	protein_coding	getma.org/?cm=var&var=hg19,6,158497782,G,T&fts=all		Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98,SMART_domains:SM00128,Superfamily_domains:SSF56219		W/L		T	medium	2492/7378		getma.org/?cm=msa&ty=f&p=SYNJ2_HUMAN&rb=535&re=855&var=W806L	deleterious(0.01)	B4DLC4_HUMAN			YES	SYNJ2,missense_variant,p.Trp806Leu,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,missense_variant,p.Trp806Leu,ENST00000367122,;SYNJ2,missense_variant,p.Trp806Leu,ENST00000367121,;SYNJ2,upstream_gene_variant,,ENST00000367112,;							MODERATE	2417/4491	W806L	SYNJ2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000347792		CCDS5254.1			1	
XKR9	0	LGGM	GRCh37	8	71646481	71646481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	4	.	.	ENST00000408926.3:c.944C>A	p.Pro315Gln	p.P315Q	ENST00000408926	NM_001011720.1	315	cCa/cAa	0	1	1	UPI00004C7A9F	0	NA	ENST00000408926		ENSG00000221947	20937		35	0.345		HGNC	p.P315Q		XKR9		SNV							ENST00000408926	protein_coding	getma.org/?cm=var&var=hg19,8,71646481,C,A&fts=all		hmmpanther:PTHR32129:SF6,hmmpanther:PTHR32129,Pfam_domain:PF09815		P/Q		A	neutral	1478/3174		getma.org/?cm=msa&ty=f&p=XKR9_HUMAN&rb=7&re=346&var=P315Q	tolerated(0.54)	E5RFF6_HUMAN			YES	XKR9,missense_variant,p.Pro315Gln,ENST00000408926,NM_001011720.1,NM_001287260.1,NM_001287259.1;XKR9,missense_variant,p.Pro315Gln,ENST00000520030,;XKR9,intron_variant,,ENST00000520273,;XKR9,3_prime_UTR_variant,,ENST00000520092,;							MODERATE	944/1122	P315Q	XKR9_HUMAN			Transcript		benign(0.001)	.	ENSP00000386141		CCDS34905.1			1	
KCNA6	0	LGGM	GRCh37	12	4919865	4919865	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000433855.1:c.658G>T	p.Gly220Trp	p.G220W	ENST00000433855	NM_002235.3	220	Ggg/Tgg	0	1		UPI00001279AD	0	getma.org/pdb.php?prot=KCNA6_HUMAN&from=135&to=264&var=G220W	ENST00000280684		ENSG00000151079	6225		12	1.355		HGNC	p.G220W		KCNA6		SNV							ENST00000280684	protein_coding	getma.org/?cm=var&var=hg19,12,4919865,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Gene3D:1.20.120.350		G/W		T	low	1524/4237		getma.org/?cm=msa&ty=f&p=KCNA6_HUMAN&rb=135&re=264&var=G220W	deleterious(0.01)					KCNA6,missense_variant,p.Gly220Trp,ENST00000433855,NM_002235.3;KCNA6,missense_variant,p.Gly220Trp,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;							MODERATE	658/1590	G220W	KCNA6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000280684		CCDS8534.1			1	
PRPSAP2	0	LGGM	GRCh37	17	18827265	18827265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000268835.2:c.772G>T	p.Gly258Cys	p.G258C	ENST00000268835	NM_002767.3	258	Ggt/Tgt	0	1	1	UPI000012DFA1	0	getma.org/pdb.php?prot=KPRB_HUMAN&from=139&to=338&var=G258C	ENST00000268835		ENSG00000141127	9467		36	4.8		HGNC	p.G258C		PRPSAP2		SNV							ENST00000432893	protein_coding	getma.org/?cm=var&var=hg19,17,18827265,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10210,hmmpanther:PTHR10210:SF29,Gene3D:3.40.50.2020,TIGRFAM_domain:TIGR01251,Pfam_domain:PF14572,Superfamily_domains:SSF53271		G/C		T	high	1055/1910		getma.org/?cm=msa&ty=f&p=KPRB_HUMAN&rb=139&re=338&var=G258C	deleterious(0)	I3L331_HUMAN,I3L275_HUMAN,I3L164_HUMAN,E7EPA1_HUMAN,C9K0K7_HUMAN,C9JJS3_HUMAN,C9JDU5_HUMAN,C9JDH0_HUMAN,B4E329_HUMAN			YES	PRPSAP2,missense_variant,p.Gly258Cys,ENST00000268835,NM_002767.3;PRPSAP2,missense_variant,p.Gly172Cys,ENST00000536323,NM_001243941.1;PRPSAP2,missense_variant,p.Gly218Cys,ENST00000419071,NM_001243936.1,NM_001243942.1;PRPSAP2,missense_variant,p.Gly258Cys,ENST00000542013,NM_001243940.1;PRPSAP2,missense_variant,p.Gly149Cys,ENST00000574451,;PRPSAP2,missense_variant,p.Gly258Cys,ENST00000432893,;PRPSAP2,missense_variant,p.Gly258Cys,ENST00000412418,;PRPSAP2,missense_variant,p.Gly47Cys,ENST00000460724,;PRPSAP2,3_prime_UTR_variant,,ENST00000492129,;PRPSAP2,3_prime_UTR_variant,,ENST00000395656,;PRPSAP2,3_prime_UTR_variant,,ENST00000455992,;PRPSAP2,upstream_gene_variant,,ENST00000466106,;							MODERATE	772/1110	G258C	KPRB_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000268835		CCDS11200.1			1	
MYO18B	0	LGGM	GRCh37	22	26274011	26274011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	4	.	.	ENST00000335473.7:c.4310G>T	p.Ser1437Ile	p.S1437I	ENST00000335473	NM_032608.5	1437	aGc/aTc	0	1		UPI0000207402	0	getma.org/pdb.php?prot=MY18B_HUMAN&from=1322&to=1461&var=S1437I	ENST00000536101		ENSG00000133454	18150		38	2.69		HGNC	p.S1438I		MYO18B		SNV							ENST00000407587	protein_coding	getma.org/?cm=var&var=hg19,22,26274011,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254,Gene3D:1.20.5.340		S/I		T	medium	4569/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=1322&re=1461&var=S1437I	deleterious(0.01)	Q8N903_HUMAN				MYO18B,missense_variant,p.Ser1437Ile,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Ser1438Ile,ENST00000407587,;MYO18B,missense_variant,p.Ser1437Ile,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	4310/7704	S1437I				Transcript		probably_damaging(0.996)	.	ENSP00000441229		CCDS54507.1			1	
RBP3	0	LGGM	GRCh37	10	48388181	48388181	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000224600.4:c.2697G>T	p.Met899Ile	p.M899I	ENST00000224600	NM_002900.2	899	atG/atT	0	1	1	UPI000012D87A	0	getma.org/pdb.php?prot=RET3_HUMAN&from=742&to=918&var=M899I	ENST00000224600		ENSG00000107618	9921		15	-2.38		HGNC	p.M899I		RBP3		SNV			1				ENST00000224600	protein_coding	getma.org/?cm=var&var=hg19,10,48388181,C,A&fts=all		hmmpanther:PTHR11261,hmmpanther:PTHR11261:SF1,Pfam_domain:PF03572,Gene3D:3.90.226.10,SMART_domains:SM00245,Superfamily_domains:SSF52096		M/I		A	neutral	2811/4276		getma.org/?cm=msa&ty=f&p=RET3_HUMAN&rb=742&re=918&var=M899I	tolerated(0.36)				YES	RBP3,missense_variant,p.Met899Ile,ENST00000224600,NM_002900.2;AL731561.2,downstream_gene_variant,,ENST00000581861,;							MODERATE	2697/3744	M899I	RET3_HUMAN			Transcript		benign(0)	.	ENSP00000224600		CCDS7218.1			1	
MTHFD1L	0	LGGM	GRCh37	6	151277185	151277185	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	4	.	.	ENST00000367321.3:c.1781C>A	p.Thr594Lys	p.T594K	ENST00000367321	NM_001242768.1	594	aCa/aAa	0	1	1	UPI00001CE513	0	getma.org/pdb.php?prot=C1TM_HUMAN&from=359&to=978&var=T594K	ENST00000367321		ENSG00000120254	21055		20	1.455		HGNC	p.T594K		MTHFD1L		SNV							ENST00000367321	protein_coding	getma.org/?cm=var&var=hg19,6,151277185,C,A&fts=all		HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268,Gene3D:3do6A02,Superfamily_domains:SSF52540		T/K		A	low	2055/3604		getma.org/?cm=msa&ty=f&p=C1TM_HUMAN&rb=359&re=978&var=T594K	deleterious(0)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN			YES	MTHFD1L,missense_variant,p.Thr594Lys,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;							MODERATE	1781/2937	T594K	C1TM_HUMAN			Transcript		benign(0.222)	.	ENSP00000356290		CCDS5228.1			1	
KIAA1239	0	LGGM	GRCh37	4	37432224	37432224	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	4	.	.	ENST00000309447.5:c.388C>A	p.Arg130=	p.R130=	ENST00000309447	NM_001144990.1	130	Cga/Aga	0	1	1	UPI00006C0875	0		ENST00000309447		ENSG00000174145	29229		43			HGNC	p.R130R		KIAA1239		SNV							ENST00000309447	protein_coding			hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18		R		A		1236/8325							YES	KIAA1239,synonymous_variant,p.=,ENST00000309447,NM_001144990.1;							LOW	388/5229		K1239_HUMAN			Transcript			.	ENSP00000309501		CCDS47040.1			1	
FNDC7	0	LGGM	GRCh37	1	109276061	109276061	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	4	.	.	ENST00000370017.3:c.2047G>T	p.Glu683Ter	p.E683*	ENST00000370017	NM_001144937.1	683	Gag/Tag	0	1	1	UPI000187497A	0	NA	ENST00000370017		ENSG00000143107	26668		40	0		HGNC	p.E683X		FNDC7		SNV							ENST00000370017	protein_coding	getma.org/?cm=var&var=hg19,1,109276061,G,T&fts=all				E/*		T	NA	2324/3332		NA					YES	FNDC7,stop_gained,p.Glu683Ter,ENST00000370017,NM_001144937.1;FNDC7,stop_gained,p.Glu684Ter,ENST00000271311,;FNDC7,stop_gained,p.Glu459Ter,ENST00000445274,;RP11-293A10.3,downstream_gene_variant,,ENST00000437400,;							HIGH	2047/2202	E683*	FNDC7_HUMAN			Transcript			.	ENSP00000359034		CCDS44185.1			1	
USH2A	0	LGGM	GRCh37	1	215901616	215901616	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	4	.	.	ENST00000307340.3:c.11822G>T	p.Arg3941Leu	p.R3941L	ENST00000307340	NM_206933.2	3941	cGg/cTg	0	1	1	UPI000034E5B6	0	getma.org/pdb.php?prot=USH2A_HUMAN&from=3863&to=3960&var=R3941L	ENST00000307340		ENSG00000042781	12601		36	3.245		HGNC	p.R3941L		USH2A		SNV			1				ENST00000366943	protein_coding	getma.org/?cm=var&var=hg19,1,215901616,C,A&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853		R/L		A	medium	12209/18883		getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=3863&re=3960&var=R3941L					YES	USH2A,missense_variant,p.Arg3941Leu,ENST00000366943,;USH2A,missense_variant,p.Arg3941Leu,ENST00000307340,NM_206933.2;							MODERATE	11822/15609	R3941L	USH2A_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000305941		CCDS31025.1			1	
ST3GAL3	0	LGGM	GRCh37	1	44386562	44386562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	7	4	.	.	ENST00000262915.3:c.1207C>A	p.His403Asn	p.H403N	ENST00000262915	NM_174963.3	403	Cac/Aac	0	1		UPI000000D7A9	0	getma.org/pdb.php?prot=SIAT6_HUMAN&from=103&to=374&var=H334N	ENST00000361392		ENSG00000126091	10866		11	3.61		HGNC	p.H388N		ST3GAL3		SNV			1				ENST00000372375	protein_coding	getma.org/?cm=var&var=hg19,1,44386562,C,A&fts=all		hmmpanther:PTHR13713:SF6,hmmpanther:PTHR13713,Pfam_domain:PF00777,PIRSF_domain:PIRSF005557		H/N		A	high	1177/2243		getma.org/?cm=msa&ty=f&p=SIAT6_HUMAN&rb=103&re=374&var=H334N	deleterious(0)					ST3GAL3,missense_variant,p.His403Asn,ENST00000262915,NM_174963.3;ST3GAL3,missense_variant,p.His388Asn,ENST00000372375,NM_174968.3;ST3GAL3,missense_variant,p.His372Asn,ENST00000351035,NM_174971.3;ST3GAL3,missense_variant,p.His334Asn,ENST00000361392,NM_006279.3,NM_001270459.1,NM_174964.2;ST3GAL3,missense_variant,p.His318Asn,ENST00000361400,NM_174969.2;ST3GAL3,missense_variant,p.His303Asn,ENST00000372374,NM_001270460.1;ST3GAL3,missense_variant,p.His403Asn,ENST00000361746,;ST3GAL3,missense_variant,p.His349Asn,ENST00000347631,;ST3GAL3,missense_variant,p.His388Asn,ENST00000372368,;ST3GAL3,missense_variant,p.His372Asn,ENST00000372372,;ST3GAL3,missense_variant,p.His304Asn,ENST00000372369,;ST3GAL3,missense_variant,p.His303Asn,ENST00000332628,;ST3GAL3,missense_variant,p.His133Asn,ENST00000490502,;ST3GAL3,3_prime_UTR_variant,,ENST00000335430,;ST3GAL3,3_prime_UTR_variant,,ENST00000372377,;ST3GAL3,intron_variant,,ENST00000353126,NM_001270461.1,NM_174966.2;ST3GAL3,intron_variant,,ENST00000545417,NM_174965.2;ST3GAL3,intron_variant,,ENST00000330208,NM_174967.2,NM_174970.2;ST3GAL3,intron_variant,,ENST00000533933,;ST3GAL3,intron_variant,,ENST00000531993,;ST3GAL3,intron_variant,,ENST00000372365,;ST3GAL3,intron_variant,,ENST00000372366,NM_001270465.1;ST3GAL3,intron_variant,,ENST00000372367,NM_001270463.1;ST3GAL3,intron_variant,,ENST00000528371,NM_001270464.1;ST3GAL3,intron_variant,,ENST00000361812,;ST3GAL3,intron_variant,,ENST00000372362,;ST3GAL3,intron_variant,,ENST00000531451,;ST3GAL3,intron_variant,,ENST00000531816,NM_001270466.1;ST3GAL3,downstream_gene_variant,,ENST00000461375,;ST3GAL3,3_prime_UTR_variant,,ENST00000469715,;ST3GAL3,3_prime_UTR_variant,,ENST00000490541,;ST3GAL3,3_prime_UTR_variant,,ENST00000530581,;ST3GAL3,3_prime_UTR_variant,,ENST00000533212,;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000495482,;ST3GAL3,intron_variant,,ENST00000533997,;ST3GAL3,intron_variant,,ENST00000489897,;ST3GAL3,downstream_gene_variant,,ENST00000530154,;							MODERATE	1000/1128	H334N	SIAT6_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000355341		CCDS492.1			1	
PTPN3	0	LGGM	GRCh37	9	112184998	112184998	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	4	.	.	ENST00000374541.2:c.1136G>T	p.Trp379Leu	p.W379L	ENST00000374541	NM_001145368.1	379	tGg/tTg	0	1	1	UPI000013D2D2	0	NA	ENST00000374541		ENSG00000070159	9655		34	1.5		HGNC	p.W248L	COSM353617	PTPN3		SNV			1			1	ENST00000412145	protein_coding	getma.org/?cm=var&var=hg19,9,112184998,C,A&fts=all		hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,PIRSF_domain:PIRSF000927		W/L		A	low	1241/6703		getma.org/?cm=msa&ty=f&p=PTN3_HUMAN&rb=317&re=509&var=W379L	tolerated(0.64)	B7Z8K9_HUMAN			YES	PTPN3,missense_variant,p.Trp248Leu,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,missense_variant,p.Trp379Leu,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,intron_variant,,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,intron_variant,,ENST00000262539,;PTPN3,upstream_gene_variant,,ENST00000394827,;					1		MODERATE	1136/2742	W379L	PTN3_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000363667		CCDS6776.1			1	
NUTM2E	0	LGGM	GRCh37	10	81609745	81609745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	4	.	.	ENST00000429984.3:c.2020C>A	p.Pro674Thr	p.P674T	ENST00000429984		674	Ccc/Acc	0	1	1	UPI0001A5E5A7	0		ENST00000429984		ENSG00000228570	23448		49			HGNC	p.P674T		NUTM2E		SNV							ENST00000429984	protein_coding			hmmpanther:PTHR22879		P/T		A		2403/3286			tolerated(0.06)				YES	NUTM2E,missense_variant,p.Pro674Thr,ENST00000429984,;NUTM2E,3_prime_UTR_variant,,ENST00000602967,;							MODERATE	2020/2637		NTM2E_HUMAN			Transcript		benign(0.267)	.	ENSP00000407521					1	
KLHL6	0	LGGM	GRCh37	3	183273183	183273183	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	4	.	.	ENST00000341319.3:c.259C>A	p.Arg87Ser	p.R87S	ENST00000341319	NM_130446.2	87	Cgc/Agc	0	1	1	UPI0000169CB9	0	getma.org/pdb.php?prot=KLHL6_HUMAN&from=62&to=169&var=R87S	ENST00000341319		ENSG00000172578	18653		47	3.19		HGNC	p.R87S		KLHL6		SNV							ENST00000341319	protein_coding	getma.org/?cm=var&var=hg19,3,183273183,G,T&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695		R/S		T	medium	295/6298		getma.org/?cm=msa&ty=f&p=KLHL6_HUMAN&rb=62&re=169&var=R87S	deleterious(0)				YES	KLHL6,missense_variant,p.Arg87Ser,ENST00000341319,NM_130446.2;KLHL6-AS1,downstream_gene_variant,,ENST00000491676,;KLHL6,missense_variant,p.Arg76Ser,ENST00000468734,;KLHL6,non_coding_transcript_exon_variant,,ENST00000489245,;							MODERATE	259/1866	R87S	KLHL6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341342		CCDS3245.2			1	
CYB5D2	0	LGGM	GRCh37	17	4053213	4053213	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000301391.3:c.279C>A	p.Thr93=	p.T93=	ENST00000301391	NM_144611.3	93	acC/acA	0	1	1	UPI000006E3B0	0		ENST00000301391		ENSG00000167740	28471		41			HGNC	p.T93T		CYB5D2		SNV							ENST00000301391	protein_coding			Gene3D:3.10.120.10,Pfam_domain:PF00173,hmmpanther:PTHR10281,hmmpanther:PTHR10281:SF4,Superfamily_domains:SSF55856		T		A		779/1910							YES	CYB5D2,synonymous_variant,p.=,ENST00000301391,NM_144611.3;CYB5D2,5_prime_UTR_variant,,ENST00000575251,;CYB5D2,5_prime_UTR_variant,,ENST00000577075,NM_001254756.1;CYB5D2,5_prime_UTR_variant,,ENST00000573984,;CYB5D2,non_coding_transcript_exon_variant,,ENST00000575411,;							LOW	279/795		NEUFC_HUMAN			Transcript			.	ENSP00000301391		CCDS11044.1			1	
ATL3	0	LGGM	GRCh37	11	63400525	63400525	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000398868.3:c.1080G>T	p.Lys360Asn	p.K360N	ENST00000398868	NM_015459.3	360	aaG/aaT	0	1	1	UPI0000071A21	0	getma.org/pdb.php?prot=ATLA3_HUMAN&from=312&to=438&var=K360N	ENST00000398868		ENSG00000184743	24526		46	3.165		HGNC	p.K360N		ATL3		SNV			1				ENST00000398868	protein_coding	getma.org/?cm=var&var=hg19,11,63400525,C,A&fts=all		Superfamily_domains:0037397,Gene3D:1f5nA01,Pfam_domain:PF02841,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32		K/N		A	medium	1357/7135		getma.org/?cm=msa&ty=f&p=ATLA3_HUMAN&rb=312&re=438&var=K360N	deleterious(0)	F5H6I7_HUMAN			YES	ATL3,missense_variant,p.Lys360Asn,ENST00000398868,NM_015459.3;ATL3,missense_variant,p.Lys387Asn,ENST00000332645,;ATL3,missense_variant,p.Lys342Asn,ENST00000538786,;RP11-697H9.2,upstream_gene_variant,,ENST00000540307,;RP11-697H9.4,downstream_gene_variant,,ENST00000605170,;							MODERATE	1080/1626	K360N	ATLA3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381844		CCDS41663.1			1	
KCNK1	0	LGGM	GRCh37	1	233802581	233802581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	4	.	.	ENST00000366621.3:c.596C>A	p.Pro199Gln	p.P199Q	ENST00000366621	NM_002245.3	199	cCg/cAg	0	1	1	UPI0000127A50	0	getma.org/pdb.php?prot=KCNK1_HUMAN&from=191&to=272&var=P199Q	ENST00000366621		ENSG00000135750	6272		24	2.82		HGNC	p.P83Q		KCNK1		SNV							ENST00000366620	protein_coding	getma.org/?cm=var&var=hg19,1,233802581,C,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,PIRSF_domain:PIRSF038061,Gene3D:1.10.287.70,Pfam_domain:PF07885,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF59		P/Q		A	medium	764/2161		getma.org/?cm=msa&ty=f&p=KCNK1_HUMAN&rb=191&re=272&var=P199Q	deleterious(0)				YES	KCNK1,missense_variant,p.Pro199Gln,ENST00000366621,NM_002245.3;KCNK1,missense_variant,p.Pro83Gln,ENST00000366620,;KCNK1,missense_variant,p.Pro117Gln,ENST00000446915,;KCNK1,non_coding_transcript_exon_variant,,ENST00000472190,;KCNK1,non_coding_transcript_exon_variant,,ENST00000487728,;KCNK1,downstream_gene_variant,,ENST00000472869,;							MODERATE	596/1011	P199Q	KCNK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355580		CCDS1599.1			1	
IL1R2	0	LGGM	GRCh37	2	102641038	102641038	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000332549.3:c.795C>A	p.Gly265=	p.G265=	ENST00000332549	NM_004633.3	265	ggC/ggA	0	1	1	UPI0000001C78	0		ENST00000332549		ENSG00000115590	5994		12			HGNC	p.G265G		IL1R2		SNV							ENST00000393414	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF3,Gene3D:2.60.40.10,Pfam_domain:PF00047,SMART_domains:SM00409,Superfamily_domains:SSF48726		G		A		1024/1578				C9JNR0_HUMAN			YES	IL1R2,synonymous_variant,p.=,ENST00000332549,NM_004633.3;IL1R2,synonymous_variant,p.=,ENST00000393414,;IL1R2,synonymous_variant,p.=,ENST00000441002,NM_001261419.1;IL1R2,downstream_gene_variant,,ENST00000457817,;IL1R2,non_coding_transcript_exon_variant,,ENST00000485335,;IL1R2,non_coding_transcript_exon_variant,,ENST00000474085,;							LOW	795/1197		IL1R2_HUMAN			Transcript			.	ENSP00000330959		CCDS2054.1			1	
HDAC5	0	LGGM	GRCh37	17	42169620	42169620	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	4	.	.	ENST00000225983.6:c.955G>T	p.Gly319Cys	p.G319C	ENST00000225983		319	Ggc/Tgc	0	1		UPI0000201355	0	NA	ENST00000586802		ENSG00000108840	14068		15	2.505		HGNC	p.G318C		HDAC5		SNV							ENST00000336057	protein_coding	getma.org/?cm=var&var=hg19,17,42169620,C,A&fts=all		PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF57,Low_complexity_(Seg):seg		G/C		A	medium	1163/3662		getma.org/?cm=msa&ty=f&p=HDAC5_HUMAN&rb=134&re=333&var=G318C	deleterious(0)	K7EJZ7_HUMAN,K7EJL6_HUMAN				HDAC5,missense_variant,p.Gly319Cys,ENST00000225983,;HDAC5,missense_variant,p.Gly318Cys,ENST00000393622,NM_001015053.1,NM_005474.4;HDAC5,missense_variant,p.Gly318Cys,ENST00000336057,;HDAC5,missense_variant,p.Gly318Cys,ENST00000586802,;HDAC5,missense_variant,p.Gly88Cys,ENST00000588261,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,downstream_gene_variant,,ENST00000588703,;HDAC5,intron_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;							MODERATE	952/3369	G318C	HDAC5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000468004		CCDS45696.1			1	
SYTL4	0	LGGM	GRCh37	X	99933571	99933571	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	4	.	.	ENST00000455616.1:c.1684G>T	p.Ala562Ser	p.A562S	ENST00000455616		562	Gcc/Tcc	0	1		UPI00001AE9F2	0	getma.org/pdb.php?prot=SYTL4_HUMAN&from=528&to=617&var=A562S	ENST00000263033		ENSG00000102362	15588		37	-0.71		HGNC	p.A562S		SYTL4		SNV							ENST00000372989	protein_coding	getma.org/?cm=var&var=hg19,X,99933571,C,A&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		A/S		A	neutral	1872/2335		getma.org/?cm=msa&ty=f&p=SYTL4_HUMAN&rb=528&re=617&var=A562S	tolerated(0.31)	B3KUZ4_HUMAN				SYTL4,missense_variant,p.Ala562Ser,ENST00000455616,;SYTL4,missense_variant,p.Ala562Ser,ENST00000372989,NM_080737.2;SYTL4,missense_variant,p.Ala564Ser,ENST00000454200,;SYTL4,missense_variant,p.Ala562Ser,ENST00000276141,NM_001174068.1;SYTL4,missense_variant,p.Ala562Ser,ENST00000263033,NM_001129896.2;RP11-524D16__A.3,downstream_gene_variant,,ENST00000568809,;SYTL4,non_coding_transcript_exon_variant,,ENST00000491602,;							MODERATE	1684/2016	A562S	SYTL4_HUMAN			Transcript		benign(0.068)	.	ENSP00000263033		CCDS14472.1			1	
DMBT1	0	LGGM	GRCh37	10	124395601	124395601	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	4	.	.	ENST00000368909.3:c.6256G>T	p.Gly2086Cys	p.G2086C	ENST00000368909	NM_007329.2	2086	Ggc/Tgc	0	1		UPI000047021C	0	getma.org/pdb.php?prot=DMBT1_HUMAN&from=2008&to=2114&var=G2086C	ENST00000338354		ENSG00000187908	2926		41	2.59		HGNC	p.G2086C		DMBT1		SNV			1				ENST00000368953	protein_coding	getma.org/?cm=var&var=hg19,10,124395601,G,T&fts=all		Superfamily_domains:SSF49854,SMART_domains:SM00042,Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180		G/C		T	medium	6362/7686		getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=2008&re=2114&var=G2086C	tolerated(0.15)	B6V682_HUMAN				DMBT1,missense_variant,p.Gly2086Cys,ENST00000338354,;DMBT1,missense_variant,p.Gly2086Cys,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Gly2076Cys,ENST00000344338,;DMBT1,missense_variant,p.Gly2076Cys,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Gly1458Cys,ENST00000368956,NM_004406.2;DMBT1,missense_variant,p.Gly1458Cys,ENST00000330163,;DMBT1,missense_variant,p.Gly806Cys,ENST00000359586,;							MODERATE	6256/7242	G2086C	DMBT1_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000342210					1	
SLC25A34	0	LGGM	GRCh37	1	16065751	16065751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	13	4	.	.	ENST00000294454.5:c.765G>T	p.Met255Ile	p.M255I	ENST00000294454	NM_207348.1	255	atG/atT	0	1	1	UPI00001A7D46	0	getma.org/pdb.php?prot=S2534_HUMAN&from=202&to=300&var=M255I	ENST00000294454		ENSG00000162461	27653		17	-0.22		HGNC	p.M255I		SLC25A34		SNV							ENST00000294454	protein_coding	getma.org/?cm=var&var=hg19,1,16065751,G,T&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF209		M/I		T	neutral	846/2986		getma.org/?cm=msa&ty=f&p=S2534_HUMAN&rb=202&re=300&var=M255I	tolerated(0.29)				YES	SLC25A34,missense_variant,p.Met255Ile,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,;							MODERATE	765/915	M255I	S2534_HUMAN			Transcript		benign(0.002)	.	ENSP00000294454		CCDS162.1			1	
RANGAP1	0	LGGM	GRCh37	22	41652252	41652252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	4	.	.	ENST00000455915.2:c.931C>A	p.Leu311Met	p.L311M	ENST00000455915		311	Ctg/Atg	0	1		UPI0000000DD9	0	getma.org/pdb.php?prot=RAGP1_HUMAN&from=138&to=321&var=L311M	ENST00000356244		ENSG00000100401	9854		46	1.6		HGNC	p.L311M		RANGAP1		SNV							ENST00000356244	protein_coding	getma.org/?cm=var&var=hg19,22,41652252,G,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24113,hmmpanther:PTHR24113:SF5		L/M		T	low	1235/3060		getma.org/?cm=msa&ty=f&p=RAGP1_HUMAN&rb=138&re=321&var=L311M	tolerated(0.12)	Q9BSK3_HUMAN,Q8WUS7_HUMAN,B4E0U0_HUMAN,B0QYT6_HUMAN,B0QYT5_HUMAN,B0QYT4_HUMAN				RANGAP1,missense_variant,p.Leu311Met,ENST00000455915,;RANGAP1,missense_variant,p.Leu311Met,ENST00000405486,NM_001278651.1;RANGAP1,missense_variant,p.Leu311Met,ENST00000356244,NM_002883.3;RANGAP1,missense_variant,p.Leu256Met,ENST00000407260,;RANGAP1,missense_variant,p.Leu207Met,ENST00000446258,;							MODERATE	931/1764	L311M	RAGP1_HUMAN			Transcript		benign(0.129)	.	ENSP00000348577		CCDS14012.1			1	
SOX9	0	LGGM	GRCh37	17	70119902	70119902	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	8	4	.	.	ENST00000245479.2:c.904G>T	p.Gly302Cys	p.G302C	ENST00000245479	NM_000346.3	302	Ggc/Tgc	0	1	1	UPI00000009D8	0	NA	ENST00000245479		ENSG00000125398	11204		12	3.515		HGNC	p.G302C		SOX9		SNV			1				ENST00000245479	protein_coding	getma.org/?cm=var&var=hg19,17,70119902,G,T&fts=all		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212		G/C		T	high	1276/3935		getma.org/?cm=msa&ty=f&p=SOX9_HUMAN&rb=174&re=373&var=G302C	deleterious(0)				YES	SOX9,missense_variant,p.Gly302Cys,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,;							MODERATE	904/1530	G302C	SOX9_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000245479		CCDS11689.1			1	
CRIM1	0	LGGM	GRCh37	2	36704186	36704186	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	4	.	.	ENST00000280527.2:c.1146C>A	p.Pro382=	p.P382=	ENST00000280527	NM_016441.2	382	ccC/ccA	0	1	1	UPI000004C628	0		ENST00000280527		ENSG00000150938	2359		27			HGNC	p.P382P		CRIM1		SNV							ENST00000280527	protein_coding			PROSITE_profiles:PS50184,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603		P		A		1513/5912				Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN			YES	CRIM1,synonymous_variant,p.=,ENST00000280527,NM_016441.2;CRIM1,upstream_gene_variant,,ENST00000481321,;							LOW	1146/3111		CRIM1_HUMAN			Transcript			.	ENSP00000280527		CCDS1783.1			1	
OR10Q1	0	LGGM	GRCh37	11	57996339	57996339	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	7	.	.	ENST00000316770.2:c.9G>T	p.Val3=	p.V3=	ENST00000316770	NM_001004471.2	3	gtG/gtT	0	1	1	UPI0000041C4C	0		ENST00000316770		ENSG00000180475	15134		97			HGNC	p.V3V	COSM1260012	OR10Q1		SNV						1	ENST00000316770	protein_coding					V		A		52/1037							YES	OR10Q1,synonymous_variant,p.=,ENST00000316770,NM_001004471.2;					1		LOW	9/960		O10Q1_HUMAN			Transcript			.	ENSP00000314324		CCDS31547.1			1	
GABRB2	0	LGGM	GRCh37	5	160758089	160758089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	7	.	.	ENST00000274547.2:c.878G>T	p.Arg293Leu	p.R293L	ENST00000274547	NM_000813.2	293	cGg/cTg	0	1	1	UPI000002AA29	0	getma.org/pdb.php?prot=GBRB2_HUMAN&from=249&to=507&var=R293L	ENST00000274547		ENSG00000145864	4082		71	1.73		HGNC	p.R293L		GABRB2		SNV							ENST00000393959	protein_coding	getma.org/?cm=var&var=hg19,5,160758089,C,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.58.390,Superfamily_domains:SSF90112		R/L		A	low	1096/7385		getma.org/?cm=msa&ty=f&p=GBRB2_HUMAN&rb=249&re=507&var=R293L	deleterious(0)	D1M715_HUMAN			YES	GABRB2,missense_variant,p.Arg293Leu,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,missense_variant,p.Arg293Leu,ENST00000393959,;GABRB2,missense_variant,p.Arg293Leu,ENST00000520240,;GABRB2,missense_variant,p.Arg293Leu,ENST00000353437,;GABRB2,missense_variant,p.Arg230Leu,ENST00000517901,;GABRB2,missense_variant,p.Arg133Leu,ENST00000517547,;							MODERATE	878/1539	R293L	GBRB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274547		CCDS4355.1			1	
KIAA1244	0	LGGM	GRCh37	6	138657520	138657520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	5	.	.	ENST00000251691.4:c.6431C>A	p.Pro2144Gln	p.P2144Q	ENST00000251691	NM_020340.4	2144	cCg/cAg	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		77	0.55		HGNC	p.P2144Q		KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138657520,C,A&fts=all		hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		P/Q		A	neutral	6597/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=2119&re=2177&var=P2144Q	deleterious(0)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Pro2144Gln,ENST00000251691,NM_020340.4;							MODERATE	6431/6534	P2144Q	BIG3_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000251691		CCDS5189.2			1	
SPOP	0	LGGM	GRCh37	17	47684669	47684669	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	107	6	.	.	ENST00000347630.2:c.780G>T	p.Thr260=	p.T260=	ENST00000347630	NM_001007230.1	260	acG/acT	0	1		UPI0000003F5C	0		ENST00000347630		ENSG00000121067	11254		113			HGNC	p.T260T		SPOP		SNV							ENST00000393331	protein_coding			PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF97,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		T		A		1128/2965				D6RIS7_HUMAN,D6RGZ4_HUMAN,D6RFL7_HUMAN,D6RDV6_HUMAN,D6RDG8_HUMAN,D6RD94_HUMAN,D6RBH6_HUMAN,D6RA79_HUMAN,B4DUE7_HUMAN,B4DEE4_HUMAN				SPOP,synonymous_variant,p.=,ENST00000393331,NM_001007227.1,NM_001007226.1;SPOP,synonymous_variant,p.=,ENST00000393328,NM_003563.3;SPOP,synonymous_variant,p.=,ENST00000347630,NM_001007230.1,NM_001007229.1;SPOP,synonymous_variant,p.=,ENST00000503676,;SPOP,synonymous_variant,p.=,ENST00000504102,NM_001007228.1;SPOP,synonymous_variant,p.=,ENST00000509079,;SPOP,downstream_gene_variant,,ENST00000505581,;SPOP,downstream_gene_variant,,ENST00000507970,;SPOP,3_prime_UTR_variant,,ENST00000509869,;SPOP,non_coding_transcript_exon_variant,,ENST00000504889,;SPOP,upstream_gene_variant,,ENST00000507551,;SPOP,downstream_gene_variant,,ENST00000506399,;							LOW	780/1125		SPOP_HUMAN			Transcript			.	ENSP00000240327		CCDS11551.1			1	
INTS2	0	LGGM	GRCh37	17	59946742	59946742	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	81	5	.	.	ENST00000444766.3:c.3055-1G>T		p.X1019_splice	ENST00000444766	NM_020748.2			0	1	1	UPI0000E5A03A	0		ENST00000444766		ENSG00000108506	29241		86			HGNC	-		INTS2		SNV							ENST00000444766	protein_coding							A		-/5878				J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,splice_acceptor_variant,,ENST00000444766,NM_020748.2;INTS2,splice_acceptor_variant,,ENST00000251334,;Y_RNA,downstream_gene_variant,,ENST00000365491,;INTS2,downstream_gene_variant,,ENST00000583822,;							HIGH	3055/3615		INT2_HUMAN			Transcript			.	ENSP00000414237		CCDS45750.1			1	
LRP2	0	LGGM	GRCh37	2	170063761	170063761	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	5	.	.	ENST00000263816.3:c.6470-1G>T		p.X2157_splice	ENST00000263816	NM_004525.2			0	1	1	UPI0000141BA5	0		ENST00000263816		ENSG00000081479	6694		37			HGNC	-		LRP2		SNV			1				ENST00000263816	protein_coding							A		-/15808				Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,splice_acceptor_variant,,ENST00000263816,NM_004525.2;							HIGH	6470/13968		LRP2_HUMAN			Transcript			.	ENSP00000263816		CCDS2232.1			1	
RB1CC1	0	LGGM	GRCh37	8	53573218	53573218	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000025008.5:c.1628-1G>T		p.X543_splice	ENST00000025008	NM_014781.4			0	1	1	UPI0000DBEF23	0		ENST00000025008		ENSG00000023287	15574		71			HGNC	-		RB1CC1		SNV							ENST00000025008	protein_coding							A		-/6635				E5RH63_HUMAN,B4DGF9_HUMAN			YES	RB1CC1,splice_acceptor_variant,,ENST00000025008,NM_014781.4;RB1CC1,splice_acceptor_variant,,ENST00000435644,NM_001083617.1;RB1CC1,splice_acceptor_variant,,ENST00000539297,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,intron_variant,,ENST00000523594,;							HIGH	1628/4785		RBCC1_HUMAN			Transcript			.	ENSP00000025008		CCDS34892.1			1	
CASP6	0	LGGM	GRCh37	4	110610725	110610725	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000265164.2:c.644-1G>T		p.X215_splice	ENST00000265164	NM_001226.3			0	1	1	UPI00000622E4	0		ENST00000265164		ENSG00000138794	1507		71			HGNC	-		CASP6		SNV							ENST00000352981	protein_coding							A		-/1548				D6RHU3_HUMAN			YES	CASP6,splice_acceptor_variant,,ENST00000265164,NM_001226.3;CASP6,splice_acceptor_variant,,ENST00000352981,NM_032992.2;CCDC109B,downstream_gene_variant,,ENST00000394650,NM_017918.4;CASP6,downstream_gene_variant,,ENST00000503684,;AC004067.5,upstream_gene_variant,,ENST00000608733,;CASP6,splice_acceptor_variant,,ENST00000510324,;CASP6,splice_acceptor_variant,,ENST00000507550,;CASP6,splice_acceptor_variant,,ENST00000505117,;CCDC109B,downstream_gene_variant,,ENST00000494604,;CASP6,downstream_gene_variant,,ENST00000508203,;							HIGH	644/882		CASP6_HUMAN			Transcript			.	ENSP00000265164		CCDS3684.1			1	
SH3TC2	0	LGGM	GRCh37	5	148431804	148431804	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000515425.1:c.53-1G>T		p.X18_splice	ENST00000515425	NM_024577.3			0	1	1	UPI00001DFBEE	0		ENST00000515425		ENSG00000169247	29427		73			HGNC	-		SH3TC2		SNV			1				ENST00000504690	protein_coding							A		-/4059				B3KXB9_HUMAN			YES	SH3TC2,splice_acceptor_variant,,ENST00000515425,NM_024577.3;SH3TC2,splice_acceptor_variant,,ENST00000512049,;SH3TC2,splice_acceptor_variant,,ENST00000394358,;SH3TC2,splice_acceptor_variant,,ENST00000323829,;SH3TC2,splice_acceptor_variant,,ENST00000504091,;SH3TC2,splice_acceptor_variant,,ENST00000504690,;SH3TC2,splice_acceptor_variant,,ENST00000513604,;SH3TC2,splice_acceptor_variant,,ENST00000511307,;SH3TC2,splice_acceptor_variant,,ENST00000511949,;							HIGH	53/3867		S3TC2_HUMAN			Transcript			.	ENSP00000423660		CCDS4293.1			1	
UTP23	0	LGGM	GRCh37	8	117783694	117783694	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000309822.2:c.364-1G>T		p.X122_splice	ENST00000309822	NM_032334.2			0	1	1	UPI000013EF3A	0		ENST00000309822		ENSG00000147679	28224		74			HGNC	-		UTP23		SNV							ENST00000309822	protein_coding							T		-/3693							YES	UTP23,splice_acceptor_variant,,ENST00000309822,NM_032334.2;UTP23,intron_variant,,ENST00000517820,;UTP23,intron_variant,,ENST00000517814,;UTP23,intron_variant,,ENST00000357148,;UTP23,intron_variant,,ENST00000520733,;EIF3H,upstream_gene_variant,,ENST00000520813,;UTP23,splice_acceptor_variant,,ENST00000521974,;UTP23,intron_variant,,ENST00000521703,;UTP23,intron_variant,,ENST00000521071,;UTP23,intron_variant,,ENST00000524128,;UTP23,downstream_gene_variant,,ENST00000519443,;							HIGH	364/750		UTP23_HUMAN			Transcript			.	ENSP00000308332		CCDS6320.1			1	
NLRP9	0	LGGM	GRCh37	19	56235410	56235410	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000332836.2:c.2095C>A	p.Gln699Lys	p.Q699K	ENST00000332836	NM_176820.2	699	Cag/Aag	0	1	1	UPI00001B6B39	0	getma.org/pdb.php?prot=NALP9_HUMAN&from=515&to=714&var=Q699K	ENST00000332836		ENSG00000185792	22941		47	0.205		HGNC	p.Q699K		NLRP9		SNV							ENST00000332836	protein_coding	getma.org/?cm=var&var=hg19,19,56235410,G,T&fts=all		hmmpanther:PTHR24106:SF72,hmmpanther:PTHR24106,Gene3D:3.80.10.10,SMART_domains:SM00368,Superfamily_domains:SSF52047		Q/K		T	neutral	2123/3484		getma.org/?cm=msa&ty=f&p=NALP9_HUMAN&rb=515&re=714&var=Q699K	tolerated(0.29)				YES	NLRP9,missense_variant,p.Gln699Lys,ENST00000332836,NM_176820.2;NLRP9,missense_variant,p.Gln699Lys,ENST00000590200,;							MODERATE	2095/2976	Q699K	NALP9_HUMAN			Transcript		benign(0.001)	.	ENSP00000331857		CCDS12934.1			1	
ZNF37A	0	LGGM	GRCh37	10	38406695	38406695	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	5	.	.	ENST00000361085.5:c.616G>T	p.Gly206Ter	p.G206*	ENST00000361085	NM_001178101.1	206	Gga/Tga	0	1		UPI000006E045	0	NA	ENST00000351773		ENSG00000075407	13102		63	0		HGNC	p.G206X		ZNF37A		SNV							ENST00000361085	protein_coding	getma.org/?cm=var&var=hg19,10,38406695,G,T&fts=all		hmmpanther:PTHR24377:SF188,hmmpanther:PTHR24377		G/*		T	NA	1446/7027		NA						ZNF37A,stop_gained,p.Gly206Ter,ENST00000361085,NM_001178101.1,NM_003421.2;ZNF37A,stop_gained,p.Gly206Ter,ENST00000351773,NM_001007094.2;ZNF37A,downstream_gene_variant,,ENST00000479469,;ZNF37A,downstream_gene_variant,,ENST00000477790,;							HIGH	616/1686	G206*	ZN37A_HUMAN			Transcript			.	ENSP00000329141		CCDS31183.1			1	
ZBTB8A	0	LGGM	GRCh37	1	33065827	33065827	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	14	5	.	.	ENST00000373510.4:c.1133C>A	p.Pro378His	p.P378H	ENST00000373510	NM_001040441.1	378	cCc/cAc	0	1	1	UPI0000074750	0	NA	ENST00000373510		ENSG00000160062	24172		19	0.805		HGNC	p.P378H		ZBTB8A		SNV							ENST00000373510	protein_coding	getma.org/?cm=var&var=hg19,1,33065827,C,A&fts=all		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF25		P/H		A	low	1362/7075		getma.org/?cm=msa&ty=f&p=ZBT8A_HUMAN&rb=322&re=389&var=P378H					YES	ZBTB8A,missense_variant,p.Pro378His,ENST00000373510,NM_001040441.1;ZBTB8OS,3_prime_UTR_variant,,ENST00000341885,;ZBTB8A,intron_variant,,ENST00000316459,;RP1-27O5.3,3_prime_UTR_variant,,ENST00000480336,;							MODERATE	1133/1326	P378H	ZBT8A_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000362609		CCDS30664.1			1	
UFSP2	0	LGGM	GRCh37	4	186329137	186329137	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000264689.6:c.1074G>T	p.Leu358=	p.L358=	ENST00000264689	NM_018359.3	358	ctG/ctT	0	1	1	UPI000020B7C0	0		ENST00000264689		ENSG00000109775	25640		47			HGNC	p.L358L		UFSP2		SNV							ENST00000510755	protein_coding			Pfam_domain:PF07910,hmmpanther:PTHR13226,hmmpanther:PTHR13226:SF9		L		A		1191/1630				D6RA67_HUMAN			YES	UFSP2,synonymous_variant,p.=,ENST00000264689,NM_018359.3;UFSP2,synonymous_variant,p.=,ENST00000511485,;UFSP2,synonymous_variant,p.=,ENST00000509180,;UFSP2,synonymous_variant,p.=,ENST00000510755,;UFSP2,3_prime_UTR_variant,,ENST00000514247,;UFSP2,upstream_gene_variant,,ENST00000510206,;							LOW	1074/1410		UFSP2_HUMAN			Transcript			.	ENSP00000264689		CCDS3842.1			1	
TCEAL2	0	LGGM	GRCh37	X	101382413	101382413	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000372780.1:c.611C>A	p.Pro204His	p.P204H	ENST00000372780	NM_080390.3	204	cCt/cAt	0	1		UPI00000709E1	0	NA	ENST00000329035		ENSG00000184905	29818		84	0.805		HGNC	p.P204H		TCEAL2		SNV							ENST00000329035	protein_coding	getma.org/?cm=var&var=hg19,X,101382413,C,A&fts=all		hmmpanther:PTHR14754,hmmpanther:PTHR14754:SF15		P/H		A	low	810/1080		getma.org/?cm=msa&ty=f&p=TCAL2_HUMAN&rb=173&re=227&var=P204H	deleterious(0)					TCEAL2,missense_variant,p.Pro204His,ENST00000372780,NM_080390.3;TCEAL2,missense_variant,p.Pro204His,ENST00000329035,;TCEAL2,downstream_gene_variant,,ENST00000476749,;							MODERATE	611/684	P204H	TCAL2_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000332359		CCDS14496.1			1	
PLEKHS1	0	LGGM	GRCh37	10	115536895	115536895	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	5	.	.	ENST00000369310.3:c.1044G>T	p.Trp348Cys	p.W348C	ENST00000369310	NM_182601.1	348	tgG/tgT	0	1	1	UPI000047020C	0	NA	ENST00000369310		ENSG00000148735	26285		23	2.095		HGNC	p.W266C		PLEKHS1		SNV							ENST00000369312	protein_coding	getma.org/?cm=var&var=hg19,10,115536895,G,T&fts=all		hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156		W/C		T	medium	1606/2046		getma.org/?cm=msa&ty=f&p=CJ081_HUMAN&rb=201&re=400&var=W362C	deleterious(0)				YES	PLEKHS1,missense_variant,p.Trp98Cys,ENST00000354462,;PLEKHS1,missense_variant,p.Trp182Cys,ENST00000369309,;PLEKHS1,missense_variant,p.Trp348Cys,ENST00000369310,NM_182601.1;PLEKHS1,missense_variant,p.Trp266Cys,ENST00000369312,NM_001193434.1,NM_001193435.1;PLEKHS1,missense_variant,p.Trp79Cys,ENST00000448805,;PLEKHS1,intron_variant,,ENST00000361048,NM_024889.4;							MODERATE	1044/1398	W362C	PKHS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358316		CCDS53580.1			1	
MAN2C1	0	LGGM	GRCh37	15	75649171	75649171	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	5	.	.	ENST00000565683.1:c.2671G>T	p.Gly891Cys	p.G891C	ENST00000565683	NM_001256494.1	891	Ggc/Tgc	0	1		UPI000012EAC8	0	NA	ENST00000267978		ENSG00000140400	6827		23	4.025		HGNC	p.G775C		MAN2C1		SNV							ENST00000563622	protein_coding	getma.org/?cm=var&var=hg19,15,75649171,C,A&fts=all		hmmpanther:PTHR11607:SF15,hmmpanther:PTHR11607,Pfam_domain:PF07748,Superfamily_domains:SSF74650		G/C		A	high	2667/3284		getma.org/?cm=msa&ty=f&p=MA2C1_HUMAN&rb=622&re=1032&var=G874C	deleterious(0)	H3BRV3_HUMAN				MAN2C1,missense_variant,p.Gly891Cys,ENST00000565683,NM_001256494.1;MAN2C1,missense_variant,p.Gly874Cys,ENST00000267978,NM_006715.3;MAN2C1,missense_variant,p.Gly874Cys,ENST00000569482,NM_001256495.1;MAN2C1,missense_variant,p.Gly775Cys,ENST00000563622,NM_001256496.1;NEIL1,downstream_gene_variant,,ENST00000564784,;NEIL1,downstream_gene_variant,,ENST00000355059,NM_024608.3;NEIL1,downstream_gene_variant,,ENST00000569035,NM_001256552.1;NEIL1,downstream_gene_variant,,ENST00000565051,;NEIL1,downstream_gene_variant,,ENST00000567657,;NEIL1,downstream_gene_variant,,ENST00000567005,;RP11-817O13.6,upstream_gene_variant,,ENST00000563660,;MIR631,upstream_gene_variant,,ENST00000384904,;NEIL1,downstream_gene_variant,,ENST00000567959,;MAN2C1,downstream_gene_variant,,ENST00000566253,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000567163,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566099,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000561693,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564929,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000566569,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000564570,;MAN2C1,non_coding_transcript_exon_variant,,ENST00000562067,;MAN2C1,downstream_gene_variant,,ENST00000564785,;NEIL1,downstream_gene_variant,,ENST00000561643,;MAN2C1,downstream_gene_variant,,ENST00000563441,;MAN2C1,downstream_gene_variant,,ENST00000566634,;NEIL1,downstream_gene_variant,,ENST00000567393,;NEIL1,downstream_gene_variant,,ENST00000565121,;MAN2C1,downstream_gene_variant,,ENST00000421803,;MAN2C1,downstream_gene_variant,,ENST00000570257,;MAN2C1,downstream_gene_variant,,ENST00000569176,;MAN2C1,downstream_gene_variant,,ENST00000563013,;MAN2C1,downstream_gene_variant,,ENST00000563794,;MAN2C1,downstream_gene_variant,,ENST00000566013,;NEIL1,downstream_gene_variant,,ENST00000568519,;MAN2C1,downstream_gene_variant,,ENST00000563368,;MAN2C1,downstream_gene_variant,,ENST00000562228,;NEIL1,downstream_gene_variant,,ENST00000567547,;MAN2C1,downstream_gene_variant,,ENST00000563596,;NEIL1,downstream_gene_variant,,ENST00000564738,;MAN2C1,downstream_gene_variant,,ENST00000563058,;MAN2C1,downstream_gene_variant,,ENST00000568944,;MAN2C1,downstream_gene_variant,,ENST00000562461,;MAN2C1,downstream_gene_variant,,ENST00000565953,;NEIL1,downstream_gene_variant,,ENST00000569758,;MAN2C1,downstream_gene_variant,,ENST00000567360,;MAN2C1,upstream_gene_variant,,ENST00000563528,;							MODERATE	2620/3123	G874C	MA2C1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000267978		CCDS32298.1			1	
PINX1	0	LGGM	GRCh37	8	10677706	10677706	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000314787.3:c.468C>A	p.Pro156=	p.P156=	ENST00000314787	NM_017884.4	156	ccC/ccA	0	1	1	UPI0000001BC7	0		ENST00000314787		ENSG00000254093	30046		84			HGNC	p.P156P		PINX1		SNV							ENST00000314787	protein_coding			hmmpanther:PTHR23149:SF9,hmmpanther:PTHR23149		P		T		588/1545							YES	PINX1,synonymous_variant,p.=,ENST00000314787,NM_017884.4;PINX1,synonymous_variant,p.=,ENST00000524114,;SOX7,intron_variant,,ENST00000554914,;SOX7,intron_variant,,ENST00000553390,;PINX1,intron_variant,,ENST00000426190,;PINX1,intron_variant,,ENST00000519088,NM_001284356.1;PINX1,downstream_gene_variant,,ENST00000517607,;PINX1,3_prime_UTR_variant,,ENST00000524061,;PINX1,intron_variant,,ENST00000523559,;							LOW	468/987		PINX1_HUMAN			Transcript			.	ENSP00000318966		CCDS47801.1			1	
WDR12	0	LGGM	GRCh37	2	203757400	203757400	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000261015.4:c.681G>T	p.Met227Ile	p.M227I	ENST00000261015	NM_018256.3	227	atG/atT	0	1	1	UPI0000138ED2	0	getma.org/pdb.php?prot=WDR12_HUMAN&from=218&to=246&var=M227I	ENST00000261015		ENSG00000138442	14098		84	-0.75		HGNC	p.M227I		WDR12		SNV							ENST00000261015	protein_coding	getma.org/?cm=var&var=hg19,2,203757400,C,A&fts=all		PROSITE_profiles:PS50294,HAMAP:MF_03029,hmmpanther:PTHR19855,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		M/I		A	neutral	1431/8100		getma.org/?cm=msa&ty=f&p=WDR12_HUMAN&rb=188&re=276&var=M227I	tolerated(0.21)	Q53T99_HUMAN			YES	WDR12,missense_variant,p.Met227Ile,ENST00000261015,NM_018256.3;WDR12,non_coding_transcript_exon_variant,,ENST00000475611,;WDR12,downstream_gene_variant,,ENST00000478869,;WDR12,upstream_gene_variant,,ENST00000477727,;							MODERATE	681/1272	M227I	WDR12_HUMAN			Transcript		benign(0)	.	ENSP00000261015		CCDS2356.1			1	
ZFP28	0	LGGM	GRCh37	19	57061521	57061521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	5	.	.	ENST00000301318.3:c.773G>T	p.Trp258Leu	p.W258L	ENST00000301318	NM_020828.1	258	tGg/tTg	0	1	1	UPI000006D90E	0	NA	ENST00000301318		ENSG00000196867	17801		54	-1.415		HGNC	p.W258L		ZFP28		SNV							ENST00000301318	protein_coding	getma.org/?cm=var&var=hg19,19,57061521,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF285,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		W/L		T	neutral	844/4086		getma.org/?cm=msa&ty=f&p=ZFP28_HUMAN&rb=232&re=268&var=W258L	tolerated(1)	Q68CX9_HUMAN			YES	ZFP28,missense_variant,p.Trp258Leu,ENST00000301318,NM_020828.1;ZFP28,missense_variant,p.Trp258Leu,ENST00000591844,;AC007228.11,intron_variant,,ENST00000596587,;ZFP28,upstream_gene_variant,,ENST00000588163,;ZFP28,downstream_gene_variant,,ENST00000589836,;							MODERATE	773/2607	W258L	ZFP28_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000301318		CCDS12946.1			1	
GPR116	0	LGGM	GRCh37	6	46856123	46856123	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	5	.	.	ENST00000283296.7:c.277G>T	p.Gly93Trp	p.G93W	ENST00000283296	NM_001098518.1	93	Ggg/Tgg	0	1		UPI000007075A	0	NA	ENST00000265417		ENSG00000069122	19030		79	1.87		HGNC	p.G93W		GPR116		SNV							ENST00000456426	protein_coding	getma.org/?cm=var&var=hg19,6,46856123,C,A&fts=all		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272		G/W		A	low	511/5668		getma.org/?cm=msa&ty=f&p=GP116_HUMAN&rb=35&re=165&var=G93W	deleterious(0.03)					GPR116,missense_variant,p.Gly93Trp,ENST00000283296,NM_001098518.1;GPR116,missense_variant,p.Gly93Trp,ENST00000362015,;GPR116,missense_variant,p.Gly93Trp,ENST00000265417,NM_015234.4;GPR116,missense_variant,p.Gly93Trp,ENST00000456426,;GPR116,non_coding_transcript_exon_variant,,ENST00000478711,;							MODERATE	277/4041	G93W	GP116_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000265417		CCDS4919.1			1	
NSD1	0	LGGM	GRCh37	5	176636718	176636718	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	5	.	.	ENST00000439151.2:c.1318C>A	p.Arg440=	p.R440=	ENST00000439151	NM_022455.4	440	Cga/Aga	0	1	1	UPI000006F9C6	0		ENST00000439151		ENSG00000165671	14234		49			HGNC	p.R171R		NSD1		SNV			1				ENST00000354179	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312		R		A		1363/12892				Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,synonymous_variant,p.=,ENST00000439151,NM_022455.4;NSD1,synonymous_variant,p.=,ENST00000361032,;NSD1,synonymous_variant,p.=,ENST00000354179,NM_172349.2;NSD1,synonymous_variant,p.=,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,upstream_gene_variant,,ENST00000375350,;							LOW	1318/8091		NSD1_HUMAN			Transcript			.	ENSP00000395929		CCDS4412.1			1	
FUBP3	0	LGGM	GRCh37	9	133495822	133495822	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	5	.	.	ENST00000319725.9:c.748C>A	p.Arg250=	p.R250=	ENST00000319725	NM_003934.1	250	Cga/Aga	0	1	1	UPI00001C1EAA	0		ENST00000319725		ENSG00000107164	4005		64			HGNC	p.R190R		FUBP3		SNV							ENST00000372376	protein_coding			hmmpanther:PTHR10288:SF100,hmmpanther:PTHR10288		R		A		823/3124							YES	FUBP3,synonymous_variant,p.=,ENST00000319725,NM_003934.1;FUBP3,non_coding_transcript_exon_variant,,ENST00000487406,;							LOW	748/1719		FUBP3_HUMAN			Transcript			.	ENSP00000318177		CCDS43893.1			1	
RYR3	0	LGGM	GRCh37	15	34015011	34015011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000389232.4:c.6715G>T	p.Gly2239Trp	p.G2239W	ENST00000389232	NM_001036.3	2239	Ggg/Tgg	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		65	2.83		HGNC	p.G2239W	COSM554698	RYR3		SNV						1	ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,34015011,G,T&fts=all		hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		G/W		T	medium	6785/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2230&re=2429&var=G2239W					YES	RYR3,missense_variant,p.Gly2239Trp,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Gly2239Trp,ENST00000415757,NM_001243996.1;Y_RNA,downstream_gene_variant,,ENST00000363138,;					1		MODERATE	6715/14613	G2239W	RYR3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000373884		CCDS45210.1			1	
CWC27	0	LGGM	GRCh37	5	64267628	64267628	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	5	.	.	ENST00000381070.3:c.1141C>A	p.Arg381=	p.R381=	ENST00000381070	NM_005869.2	381	Cgg/Agg	0	1	1	UPI0000048ECC	0		ENST00000381070		ENSG00000153015	10664		55			HGNC	p.R381R		CWC27		SNV							ENST00000381070	protein_coding					R		A		1358/2078							YES	CWC27,synonymous_variant,p.=,ENST00000381070,NM_005869.2;CWC27,non_coding_transcript_exon_variant,,ENST00000545000,;							LOW	1141/1419		CWC27_HUMAN			Transcript			.	ENSP00000370460		CCDS3982.2			1	
NOTCH2	0	LGGM	GRCh37	1	120480000	120480000	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	5	.	.	ENST00000256646.2:c.3427G>T	p.Gly1143Trp	p.G1143W	ENST00000256646	NM_024408.3	1143	Ggg/Tgg	0	1	1	UPI000013CF1D	0	NA	ENST00000256646		ENSG00000134250	7882		34	4.65		HGNC	p.G1143W		NOTCH2		SNV			1				ENST00000256646	protein_coding	getma.org/?cm=var&var=hg19,1,120480000,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		G/W		A	high	3647/11389		getma.org/?cm=msa&ty=f&p=NOTC2_HUMAN&rb=1116&re=1145&var=G1143W	deleterious(0)	Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,missense_variant,p.Gly1143Trp,ENST00000256646,NM_024408.3;NOTCH2,non_coding_transcript_exon_variant,,ENST00000478864,;							MODERATE	3427/7416	G1143W	NOTC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256646		CCDS908.1			1	
LRRC39	0	LGGM	GRCh37	1	100621789	100621789	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	5	.	.	ENST00000370138.1:c.598G>T	p.Ala200Ser	p.A200S	ENST00000370138	NM_001256385.1	200	Gcc/Tcc	0	1		UPI0000070C71	0	NA	ENST00000342895		ENSG00000122477	28228		40	0.11		HGNC	p.A200S		LRRC39		SNV							ENST00000370137	protein_coding	getma.org/?cm=var&var=hg19,1,100621789,C,A&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF422,SMART_domains:SM00369,Superfamily_domains:SSF52047		A/S		A	neutral	797/1396		getma.org/?cm=msa&ty=f&p=LRC39_HUMAN&rb=199&re=239&var=A200S	tolerated(0.75)					LRRC39,missense_variant,p.Ala200Ser,ENST00000370138,NM_001256385.1;LRRC39,missense_variant,p.Ala200Ser,ENST00000342895,NM_001256387.1;LRRC39,missense_variant,p.Ala200Ser,ENST00000370137,NM_001256386.1,NM_144620.3;							MODERATE	598/1008	A200S	LRC39_HUMAN			Transcript		benign(0.054)	.	ENSP00000344470		CCDS766.1			1	
DGAT2	0	LGGM	GRCh37	11	75507511	75507511	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	5	.	.	ENST00000228027.7:c.568C>A	p.Pro190Thr	p.P190T	ENST00000228027	NM_032564.4	190	Cct/Act	0	1	1	UPI0000048F05	0	NA	ENST00000228027		ENSG00000062282	16940		55	1.61		HGNC	p.P190T		DGAT2		SNV							ENST00000228027	protein_coding	getma.org/?cm=var&var=hg19,11,75507511,C,A&fts=all		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF14		P/T		A	low	828/2453		getma.org/?cm=msa&ty=f&p=DGAT2_HUMAN&rb=92&re=388&var=P190T	deleterious(0.03)	S4R449_HUMAN,S4R3Z3_HUMAN,S4R383_HUMAN			YES	DGAT2,missense_variant,p.Pro190Thr,ENST00000228027,NM_032564.4;DGAT2,missense_variant,p.Pro147Thr,ENST00000376262,NM_001253891.1;DGAT2,missense_variant,p.Pro144Thr,ENST00000604733,;DGAT2,missense_variant,p.Pro99Thr,ENST00000603276,;DGAT2,missense_variant,p.Pro99Thr,ENST00000604935,;DGAT2,missense_variant,p.Pro99Thr,ENST00000605099,;RP11-535A19.1,downstream_gene_variant,,ENST00000534354,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603363,;DGAT2,non_coding_transcript_exon_variant,,ENST00000603865,;							MODERATE	568/1167	P190T	DGAT2_HUMAN			Transcript		benign(0.199)	.	ENSP00000228027		CCDS31642.1			1	
PPHLN1	0	LGGM	GRCh37	12	42792658	42792658	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	5	.	.	ENST00000395568.2:c.771G>T	p.Ala257=	p.A257=	ENST00000395568	NM_016488.6	257	gcG/gcT	0	1	1	UPI0000351A1E	0		ENST00000395568		ENSG00000134283	19369		75			HGNC	p.A275A		PPHLN1		SNV							ENST00000549190	protein_coding			hmmpanther:PTHR15836,hmmpanther:PTHR15836:SF2,Pfam_domain:PF11488		A		T		855/2170				F8VWU8_HUMAN			YES	PPHLN1,splice_region_variant,p.=,ENST00000432191,NM_001143787.1;PPHLN1,splice_region_variant,p.=,ENST00000395568,NM_016488.6;PPHLN1,splice_region_variant,p.=,ENST00000256678,;PPHLN1,splice_region_variant,p.=,ENST00000549190,;PPHLN1,splice_region_variant,p.=,ENST00000395580,NM_201515.1;PPHLN1,splice_region_variant,p.=,ENST00000358314,NM_201439.1;PPHLN1,splice_region_variant,p.=,ENST00000449194,NM_001143788.1,NM_001143789.1;PPHLN1,splice_region_variant,p.=,ENST00000337898,;PPHLN1,splice_region_variant,p.=,ENST00000317560,;PPHLN1,splice_region_variant,p.=,ENST00000552761,NM_201440.1;RNU6-249P,downstream_gene_variant,,ENST00000363016,;PPHLN1,splice_region_variant,,ENST00000547440,;PPHLN1,splice_region_variant,,ENST00000552202,;							LOW	771/1377		PPHLN_HUMAN			Transcript			.	ENSP00000378935		CCDS31777.1			1	
ITGAV	0	LGGM	GRCh37	2	187520996	187520996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	5	.	.	ENST00000261023.3:c.1587G>T	p.Leu529Phe	p.L529F	ENST00000261023	NM_002210.4	529	ttG/ttT	0	1	1	UPI000013D12E	0	getma.org/pdb.php?prot=ITAV_HUMAN&from=467&to=914&var=L529F	ENST00000261023		ENSG00000138448	6150		93	2.775		HGNC	p.L483F		ITGAV		SNV							ENST00000433736	protein_coding	getma.org/?cm=var&var=hg19,2,187520996,G,T&fts=all		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF4,Superfamily_domains:SSF69179		L/F		T	medium	1861/7030		getma.org/?cm=msa&ty=f&p=ITAV_HUMAN&rb=467&re=914&var=L529F	deleterious(0)	L7RXH0_HUMAN			YES	ITGAV,missense_variant,p.Leu529Phe,ENST00000261023,NM_002210.4;ITGAV,missense_variant,p.Leu493Phe,ENST00000374907,NM_001145000.2;ITGAV,missense_variant,p.Leu483Phe,ENST00000433736,NM_001144999.2;AC017101.10,intron_variant,,ENST00000453665,;							MODERATE	1587/3147	L529F	ITAV_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261023		CCDS2292.1			1	
GPR176	0	LGGM	GRCh37	15	40093614	40093614	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	5	.	.	ENST00000561100.1:c.1267C>A	p.Pro423Thr	p.P423T	ENST00000561100	NM_007223.2	423	Cca/Aca	0	1	1	UPI0000041346	0	NA	ENST00000561100		ENSG00000166073	32370	8.64E-05	55	0.895		HGNC	p.P422T	rs754015655	GPR176		SNV							ENST00000299092	protein_coding	getma.org/?cm=var&var=hg19,15,40093614,G,T&fts=all		hmmpanther:PTHR22752:SF1,hmmpanther:PTHR22752		P/T		T	low	2133/2816		getma.org/?cm=msa&ty=f&p=GP176_HUMAN&rb=321&re=515&var=P423T	tolerated_low_confidence(0.28)	H9NIL9_HUMAN			YES	GPR176,missense_variant,p.Pro422Thr,ENST00000299092,NM_001271854.1;GPR176,missense_variant,p.Pro423Thr,ENST00000561100,NM_007223.2;GPR176,missense_variant,p.Pro378Thr,ENST00000543580,NM_001271855.1;GPR176,downstream_gene_variant,,ENST00000560729,;GPR176,downstream_gene_variant,,ENST00000558041,;RP11-37C7.1,upstream_gene_variant,,ENST00000558616,;							MODERATE	1267/1548	P423T	GP176_HUMAN			Transcript		benign(0)	.	ENSP00000453076	8.24E-06	CCDS10051.1			1	
CREBZF	0	LGGM	GRCh37	11	85375117	85375117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	5	.	.	ENST00000527447.1:c.803G>T	p.Arg268Leu	p.R268L	ENST00000527447	NM_001039618.2	268	cGg/cTg	0	1		UPI0000405F55	0	NA	ENST00000490820		ENSG00000137504	24905		82	1.5		HGNC	p.R194L		CREBZF		SNV							ENST00000260058	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,11,85375117,C,A&fts=all		hmmpanther:PTHR14312,hmmpanther:PTHR14312:SF1		R/L		A	low	1030/4329		getma.org/?cm=msa&ty=f&p=ZHANG_HUMAN&rb=266&re=354&var=R268L	deleterious(0)					CREBZF,missense_variant,p.Arg268Leu,ENST00000527447,NM_001039618.2;CREBZF,missense_variant,p.Arg186Leu,ENST00000398294,;CREBZF,intron_variant,,ENST00000534224,;CREBZF,intron_variant,,ENST00000531515,;CREBZF,missense_variant,p.Arg268Leu,ENST00000490820,;CREBZF,missense_variant,p.Arg268Leu,ENST00000525639,;CREBZF,missense_variant,p.Arg194Leu,ENST00000260058,;CREBZF,missense_variant,p.Arg40Leu,ENST00000527529,;CREBZF,non_coding_transcript_exon_variant,,ENST00000528561,;CREBZF,upstream_gene_variant,,ENST00000528889,;							MODERATE	803/1065	R268L	ZHANG_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000434281		CCDS41697.1			1	
TMEM232	0	LGGM	GRCh37	5	109961033	109961033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	81	5	.	.	ENST00000455884.2:c.703C>A	p.Arg235Ser	p.R235S	ENST00000455884		235	Cgt/Agt	0	1	1	UPI00017A7675	0	NA	ENST00000455884		ENSG00000186952	37270		86	1.04		HGNC	p.R235S		TMEM232		SNV							ENST00000455884	protein_coding	getma.org/?cm=var&var=hg19,5,109961033,G,T&fts=all				R/S		T	low	754/2501		getma.org/?cm=msa&ty=f&p=TM232_HUMAN&rb=201&re=400&var=R235S	tolerated(0.4)	D6REY3_HUMAN,D6RC30_HUMAN			YES	TMEM232,missense_variant,p.Arg235Ser,ENST00000429839,NM_001039763.3;TMEM232,missense_variant,p.Arg235Ser,ENST00000455884,;TMEM232,missense_variant,p.Arg235Ser,ENST00000511883,;TMEM232,non_coding_transcript_exon_variant,,ENST00000515518,;TMEM232,intron_variant,,ENST00000515363,;TMEM232,3_prime_UTR_variant,,ENST00000512003,;TMEM232,non_coding_transcript_exon_variant,,ENST00000508571,;							MODERATE	703/1974	R235S	TM232_HUMAN			Transcript		benign(0.132)	.	ENSP00000401477		CCDS47253.2			1	
C22orf42	0	LGGM	GRCh37	22	32550255	32550255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	5	.	.	ENST00000382097.3:c.283G>T	p.Gly95Trp	p.G95W	ENST00000382097	NM_001010859.1	95	Ggg/Tgg	0	1	1	UPI00003765B0	0	NA	ENST00000382097		ENSG00000205856	27160		75	0		HGNC	p.G95W		C22orf42		SNV							ENST00000382097	protein_coding	getma.org/?cm=var&var=hg19,22,32550255,C,A&fts=all		hmmpanther:PTHR15880,hmmpanther:PTHR15880:SF1		G/W		A	neutral	356/1363		getma.org/?cm=msa&ty=f&p=CV042_HUMAN&rb=1&re=250&var=G95W	deleterious_low_confidence(0.02)				YES	C22orf42,missense_variant,p.Gly95Trp,ENST00000382097,NM_001010859.1;C22orf42,upstream_gene_variant,,ENST00000490640,;C22orf42,non_coding_transcript_exon_variant,,ENST00000467813,;							MODERATE	283/756	G95W	CV042_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000371529		CCDS33639.1			1	
POU6F2	0	LGGM	GRCh37	7	39247041	39247041	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	5	.	.	ENST00000403058.1:c.333G>T	p.Pro111=	p.P111=	ENST00000403058	NM_001166018.1	111	ccG/ccT	0	1	1	UPI0000480E81	0		ENST00000403058		ENSG00000106536	21694		66			HGNC	p.P103P	rs776845454	POU6F2	6.06E-05	SNV			1				ENST00000559001	protein_coding			hmmpanther:PTHR11636:SF68,hmmpanther:PTHR11636		P		T		487/2335				H0YL15_HUMAN			YES	POU6F2,synonymous_variant,p.=,ENST00000518318,;POU6F2,synonymous_variant,p.=,ENST00000559001,;POU6F2,synonymous_variant,p.=,ENST00000403058,NM_001166018.1,NM_007252.3;POU6F2,synonymous_variant,p.=,ENST00000524147,;POU6F2,synonymous_variant,p.=,ENST00000520104,;POU6F2,synonymous_variant,p.=,ENST00000451021,;POU6F2,non_coding_transcript_exon_variant,,ENST00000517348,;							LOW	333/2076		PO6F2_HUMAN			Transcript			.	ENSP00000384004	8.24E-06	CCDS34620.2			1	
CNTRL	0	LGGM	GRCh37	9	123907182	123907182	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000373855.1:c.3113G>T	p.Arg1038Leu	p.R1038L	ENST00000373855		1038	cGa/cTa	0	1		UPI0000211718	0	NA	ENST00000238341		ENSG00000119397	1858		90	1.935		HGNC	p.R1038L	COSM1661210	CNTRL		SNV						1	ENST00000238341	protein_coding	getma.org/?cm=var&var=hg19,9,123907182,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1		R/L		T	medium	3144/7431		getma.org/?cm=msa&ty=f&p=CNTRL_HUMAN&rb=1001&re=1200&var=R1038L		Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN				CNTRL,missense_variant,p.Arg1038Leu,ENST00000373855,;CNTRL,missense_variant,p.Arg1038Leu,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Arg486Leu,ENST00000373850,;CNTRL,missense_variant,p.Arg486Leu,ENST00000373847,;CNTRL,5_prime_UTR_variant,,ENST00000431571,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;					1		MODERATE	3113/6978	R1038L	CNTRL_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000238341		CCDS35118.1			1	
PCDHA13	0	LGGM	GRCh37	5	140263096	140263096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	5	.	.	ENST00000289272.2:c.1243C>A	p.Arg415Ser	p.R415S	ENST00000289272	NM_018904.2	415	Cgc/Agc	0	1	1	UPI00001273D6	0	NA	ENST00000289272		ENSG00000239389	8667		79	4.175		HGNC	p.R415S		PCDHA13		SNV							ENST00000409494	protein_coding	getma.org/?cm=var&var=hg19,5,140263096,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/S		A	high	1243/5260		getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=355&re=446&var=R415S	deleterious_low_confidence(0.01)				YES	PCDHA13,missense_variant,p.Arg415Ser,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Arg415Ser,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;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;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,;							MODERATE	1243/2853	R415S	PCDAD_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000289272		CCDS4240.1			1	
NUCB2	0	LGGM	GRCh37	11	17317680	17317680	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	5	.	.	ENST00000529010.1:c.174C>A	p.Leu58=	p.L58=	ENST00000529010	NM_005013.2	58	ctC/ctA	0	1	1	UPI000013D6B1	0		ENST00000529010		ENSG00000070081	8044		81			HGNC	p.L58L		NUCB2		SNV							ENST00000533926	protein_coding			hmmpanther:PTHR19237:SF22,hmmpanther:PTHR19237		L		A		393/2274				E9PRQ3_HUMAN,E9PM22_HUMAN,E9PLR5_HUMAN,E9PLR0_HUMAN,E9PLE9_HUMAN,E9PJP3_HUMAN			YES	NUCB2,synonymous_variant,p.=,ENST00000529010,NM_005013.2;NUCB2,synonymous_variant,p.=,ENST00000323688,;NUCB2,synonymous_variant,p.=,ENST00000530527,;NUCB2,synonymous_variant,p.=,ENST00000458064,;NUCB2,synonymous_variant,p.=,ENST00000529313,;NUCB2,synonymous_variant,p.=,ENST00000533738,;NUCB2,synonymous_variant,p.=,ENST00000533926,;NUCB2,synonymous_variant,p.=,ENST00000526120,;NUCB2,downstream_gene_variant,,ENST00000528644,;NUCB2,downstream_gene_variant,,ENST00000531172,;NUCB2,downstream_gene_variant,,ENST00000530964,;NUCB2,synonymous_variant,p.=,ENST00000533773,;NUCB2,downstream_gene_variant,,ENST00000533511,;							LOW	174/1263		NUCB2_HUMAN			Transcript			.	ENSP00000436455		CCDS41623.1			1	
C21orf140	0	LGGM	GRCh37	21	35773242	35773242	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	5	.	.	ENST00000410005.1:c.129C>A	p.Thr43=	p.T43=	ENST00000410005	NM_001282537.1	43	acC/acA	0	1	1	UPI00003EE47F	0		ENST00000410005		ENSG00000222018	39602		83			HGNC	p.T43T		C21orf140		SNV							ENST00000410005	protein_coding					T		T		129/756							YES	C21orf140,synonymous_variant,p.=,ENST00000410005,NM_001282537.1;SMIM11,intron_variant,,ENST00000399299,;SMIM11,intron_variant,,ENST00000481710,;SMIM11,intron_variant,,ENST00000495363,;SMIM11,downstream_gene_variant,,ENST00000489469,;							LOW	129/756		YU009_HUMAN			Transcript			.	ENSP00000386791		CCDS63357.1			1	
MMP16	0	LGGM	GRCh37	8	89053733	89053733	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	5	.	.	ENST00000286614.6:c.1780C>A	p.Arg594Ser	p.R594S	ENST00000286614	NM_005941.4	594	Cgc/Agc	0	1	1	UPI000003DC73	0	NA	ENST00000286614		ENSG00000156103	7162		80	1.975		HGNC	p.R594S	rs749473846	MMP16	6.29E-05	SNV							ENST00000286614	protein_coding	getma.org/?cm=var&var=hg19,8,89053733,G,T&fts=all		Pfam_domain:PF11857		R/S		T	medium	2062/11558		getma.org/?cm=msa&ty=f&p=MMP16_HUMAN&rb=534&re=607&var=R594S	deleterious(0)				YES	MMP16,missense_variant,p.Arg594Ser,ENST00000286614,NM_005941.4;							MODERATE	1780/1824	R594S	MMP16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000286614	8.24E-06	CCDS6246.1			1	
RALGAPA2	0	LGGM	GRCh37	20	20571849	20571849	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	5	.	.	ENST00000202677.7:c.2313C>A	p.Pro771=	p.P771=	ENST00000202677	NM_020343.3	771	ccC/ccA	0	1	1	UPI000040F987	0		ENST00000202677		ENSG00000188559	16207		81			HGNC	p.P771P		RALGAPA2		SNV							ENST00000202677	protein_coding			hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF2		P		T		2321/6152							YES	RALGAPA2,synonymous_variant,p.=,ENST00000430436,;RALGAPA2,synonymous_variant,p.=,ENST00000202677,NM_020343.3;							LOW	2313/5622		RGPA2_HUMAN			Transcript			.	ENSP00000202677		CCDS46584.1			1	
ATP2C2	0	LGGM	GRCh37	16	84476193	84476193	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000262429.4:c.1389C>A	p.Ala463=	p.A463=	ENST00000262429	NM_014861.2	463	gcC/gcA	0	1	1	UPI0000252110	0		ENST00000262429		ENSG00000064270	29103		41			HGNC	p.A463A		ATP2C2		SNV							ENST00000262429	protein_coding			hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01522,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660		A		A		1478/3376							YES	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,downstream_gene_variant,,ENST00000564099,;							LOW	1389/2841		AT2C2_HUMAN			Transcript			.	ENSP00000262429		CCDS42207.1			1	
KIAA0922	0	LGGM	GRCh37	4	154476983	154476983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	5	.	.	ENST00000409959.3:c.353C>A	p.Pro118His	p.P118H	ENST00000409959	NM_001131007.1	118	cCt/cAt	0	1		UPI000170BA66	0	NA	ENST00000409663		ENSG00000121210	29146		56	1.935		HGNC	p.P118H		KIAA0922		SNV							ENST00000440693	protein_coding	getma.org/?cm=var&var=hg19,4,154476983,C,A&fts=all		hmmpanther:PTHR22050:SF2,hmmpanther:PTHR22050		P/H		A	medium	405/5017		getma.org/?cm=msa&ty=f&p=T131L_HUMAN&rb=1&re=154&var=P118H	deleterious(0)					KIAA0922,missense_variant,p.Pro118His,ENST00000409959,NM_001131007.1;KIAA0922,missense_variant,p.Pro118His,ENST00000409663,NM_015196.3;KIAA0922,missense_variant,p.Pro118His,ENST00000440693,;KIAA0922,upstream_gene_variant,,ENST00000240487,;KIAA0922,3_prime_UTR_variant,,ENST00000445960,;KIAA0922,non_coding_transcript_exon_variant,,ENST00000462540,;							MODERATE	353/4830	P118H	T131L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386574		CCDS3783.2			1	
ATRN	0	LGGM	GRCh37	20	3559293	3559293	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000262919.5:c.2418G>T	p.Lys806Asn	p.K806N	ENST00000262919	NM_139321.2	806	aaG/aaT	0	1	1	UPI000012661C	0	getma.org/pdb.php?prot=ATRN_HUMAN&from=795&to=919&var=K806N	ENST00000262919		ENSG00000088812	885		67	1.76		HGNC	p.K806N		ATRN		SNV							ENST00000446916	protein_coding	getma.org/?cm=var&var=hg19,20,3559293,G,T&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR10574:SF223,hmmpanther:PTHR10574,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436		K/N		T	low	2486/8633		getma.org/?cm=msa&ty=f&p=ATRN_HUMAN&rb=795&re=919&var=K806N	tolerated(0.06)				YES	ATRN,missense_variant,p.Lys806Asn,ENST00000262919,NM_139321.2;ATRN,missense_variant,p.Lys806Asn,ENST00000446916,NM_139322.2,NM_001207047.1;							MODERATE	2418/4290	K806N	ATRN_HUMAN			Transcript		benign(0.019)	.	ENSP00000262919		CCDS13053.1			1	
ADD3	0	LGGM	GRCh37	10	111872651	111872651	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	80	5	.	.	ENST00000356080.4:c.312G>T	p.Ser104=	p.S104=	ENST00000356080	NM_016824.3	104	tcG/tcT	0	1	1	UPI0000125505	0		ENST00000356080		ENSG00000148700	245		85			HGNC	p.S104S		ADD3		SNV			1				ENST00000360162	protein_coding			hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF5,Low_complexity_(Seg):seg		S		T		679/3081				Q5VU08_HUMAN			YES	ADD3,synonymous_variant,p.=,ENST00000277900,NM_001121.2;ADD3,synonymous_variant,p.=,ENST00000360162,NM_019903.3;ADD3,synonymous_variant,p.=,ENST00000356080,NM_016824.3;ADD3,non_coding_transcript_exon_variant,,ENST00000497125,;ADD3,non_coding_transcript_exon_variant,,ENST00000496517,;ADD3,non_coding_transcript_exon_variant,,ENST00000487085,;ADD3,non_coding_transcript_exon_variant,,ENST00000468251,;ADD3,non_coding_transcript_exon_variant,,ENST00000468345,;ADD3,non_coding_transcript_exon_variant,,ENST00000495661,;ADD3,non_coding_transcript_exon_variant,,ENST00000473669,;ADD3,non_coding_transcript_exon_variant,,ENST00000475954,;ADD3,non_coding_transcript_exon_variant,,ENST00000484622,;ADD3,intron_variant,,ENST00000486014,;							LOW	312/2121		ADDG_HUMAN			Transcript			.	ENSP00000348381		CCDS7561.1			1	
ZNF41	0	LGGM	GRCh37	X	47308172	47308172	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000377065.4:c.997G>T	p.Gly333Trp	p.G333W	ENST00000377065	NM_153380.2	333	Ggg/Tgg	0	1	1	UPI0000001C0E	0	getma.org/pdb.php?prot=ZNF41_HUMAN&from=357&to=379&var=G375W	ENST00000377065		ENSG00000147124	13107		65	2.935		HGNC	p.G343W		ZNF41		SNV			1				ENST00000397050	protein_coding	getma.org/?cm=var&var=hg19,X,47308172,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF82,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		A	medium	1637/4531		getma.org/?cm=msa&ty=f&p=ZNF41_HUMAN&rb=337&re=399&var=G375W	deleterious(0.02)				YES	ZNF41,missense_variant,p.Gly333Trp,ENST00000377065,NM_153380.2;ZNF41,missense_variant,p.Gly343Trp,ENST00000397050,NM_007130.2;ZNF41,missense_variant,p.Gly333Trp,ENST00000313116,;ZNF41,downstream_gene_variant,,ENST00000432977,;ZNF41,downstream_gene_variant,,ENST00000465311,;							MODERATE	997/2340	G375W	ZNF41_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000366265		CCDS14279.1			1	
CHD2	0	LGGM	GRCh37	15	93563420	93563420	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	5	.	.	ENST00000394196.4:c.5085C>A	p.Ser1695=	p.S1695=	ENST00000394196	NM_001271.3	1695	tcC/tcA	0	1	1	UPI0000E8A85C	0		ENST00000394196		ENSG00000173575	1917		21			HGNC	p.S1695S		CHD2		SNV			1				ENST00000557381	protein_coding					S		A		6153/9857				Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,synonymous_variant,p.=,ENST00000394196,NM_001271.3;CHD2,synonymous_variant,p.=,ENST00000557381,;CHD2,downstream_gene_variant,,ENST00000557759,;							LOW	5085/5487		CHD2_HUMAN			Transcript			.	ENSP00000377747		CCDS10374.2			1	
NEK8	0	LGGM	GRCh37	17	27064917	27064917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	5	.	.	ENST00000268766.6:c.970C>A	p.Pro324Thr	p.P324T	ENST00000268766	NM_178170.2	324	Ccc/Acc	0	1	1	UPI000004B820	0	getma.org/pdb.php?prot=NEK8_HUMAN&from=259&to=409&var=P324T	ENST00000268766		ENSG00000160602	13387		16	2.16		HGNC	p.P377H		NEK8		SNV			1				ENST00000543014	protein_coding	getma.org/?cm=var&var=hg19,17,27064917,C,A&fts=all		PROSITE_profiles:PS50012,hmmpanther:PTHR24362:SF209,hmmpanther:PTHR24362,Gene3D:2.130.10.30,Superfamily_domains:SSF50985		P/T		A	medium	1004/3581		getma.org/?cm=msa&ty=f&p=NEK8_HUMAN&rb=259&re=409&var=P324T	deleterious(0)	K7EPD3_HUMAN,K7END4_HUMAN			YES	NEK8,missense_variant,p.Pro324Thr,ENST00000268766,NM_178170.2;NEK8,missense_variant,p.Pro178Thr,ENST00000592510,;NEK8,downstream_gene_variant,,ENST00000579060,;NEK8,downstream_gene_variant,,ENST00000579671,;AC010761.6,intron_variant,,ENST00000584779,;AC010761.6,downstream_gene_variant,,ENST00000582536,;NEK8,downstream_gene_variant,,ENST00000593261,;NEK8,missense_variant,p.Pro377His,ENST00000543014,;NEK8,downstream_gene_variant,,ENST00000584342,;NEK8,downstream_gene_variant,,ENST00000581000,;							MODERATE	970/2079	P324T	NEK8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000268766		CCDS32597.1			1	
KIAA1244	0	LGGM	GRCh37	6	138584677	138584677	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000251691.4:c.2057G>T	p.Arg686Leu	p.R686L	ENST00000251691	NM_020340.4	686	cGg/cTg	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		71	1.87		HGNC	p.R686L		KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138584677,G,T&fts=all		Low_complexity_(Seg):seg,SMART_domains:SM00222,hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		R/L		T	low	2223/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=583&re=796&var=R686L	deleterious(0.03)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Arg686Leu,ENST00000251691,NM_020340.4;							MODERATE	2057/6534	R686L	BIG3_HUMAN			Transcript		benign(0.259)	.	ENSP00000251691		CCDS5189.2			1	
GABRG1	0	LGGM	GRCh37	4	46060566	46060566	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	5	.	.	ENST00000295452.4:c.699G>T	p.Trp233Cys	p.W233C	ENST00000295452	NM_173536.3	233	tgG/tgT	0	1	1	UPI0000047AE2	0	getma.org/pdb.php?prot=GBRG1_HUMAN&from=64&to=270&var=W233C	ENST00000295452		ENSG00000163285	4086		43	2.625		HGNC	p.W233C		GABRG1		SNV							ENST00000295452	protein_coding	getma.org/?cm=var&var=hg19,4,46060566,C,A&fts=all		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF93,TIGRFAM_domain:TIGR00860		W/C		A	medium	867/6785		getma.org/?cm=msa&ty=f&p=GBRG1_HUMAN&rb=64&re=270&var=W233C	deleterious(0.01)				YES	GABRG1,missense_variant,p.Trp233Cys,ENST00000295452,NM_173536.3;							MODERATE	699/1398	W233C	GBRG1_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000295452		CCDS3470.1			1	
RORB	0	LGGM	GRCh37	9	77300522	77300522	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	5	.	.	ENST00000376896.3:c.1368C>A	p.Thr456=	p.T456=	ENST00000376896	NM_006914.3	456	acC/acA	0	1		UPI000022D774	0		ENST00000396204		ENSG00000198963	10259		83			HGNC	p.T456T		RORB		SNV							ENST00000376896	protein_coding					T		A		1401/2996								RORB,synonymous_variant,p.=,ENST00000376896,NM_006914.3;RORB,synonymous_variant,p.=,ENST00000396204,;							LOW	1401/1413		RORB_HUMAN			Transcript			.	ENSP00000379507					1	
CDC42EP1	0	LGGM	GRCh37	22	37964181	37964181	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	5	.	.	ENST00000249014.4:c.530G>T	p.Arg177Leu	p.R177L	ENST00000249014	NM_152243.2	177	cGg/cTg	0	1	1	UPI000012F5E7	0	NA	ENST00000249014		ENSG00000128283	17014		44	0.06		HGNC	p.R177L		CDC42EP1		SNV							ENST00000249014	protein_coding	getma.org/?cm=var&var=hg19,22,37964181,G,T&fts=all		Pfam_domain:PF14957,hmmpanther:PTHR15344:SF7,hmmpanther:PTHR15344		R/L		T	neutral	950/2181		getma.org/?cm=msa&ty=f&p=BORG5_HUMAN&rb=88&re=287&var=R177L	tolerated(0.13)	B0QYC8_HUMAN,B0QYC7_HUMAN,B0QYC6_HUMAN			YES	CDC42EP1,missense_variant,p.Arg177Leu,ENST00000249014,NM_152243.2;CDC42EP1,downstream_gene_variant,,ENST00000430687,;LGALS2,downstream_gene_variant,,ENST00000215886,NM_006498.2;CDC42EP1,downstream_gene_variant,,ENST00000415670,;CDC42EP1,downstream_gene_variant,,ENST00000434728,;LGALS2,downstream_gene_variant,,ENST00000416480,;							MODERATE	530/1176	R177L	BORG5_HUMAN			Transcript		possibly_damaging(0.674)	.	ENSP00000249014		CCDS13949.1			1	
C20orf194	0	LGGM	GRCh37	20	3329178	3329178	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	93	5	.	.	ENST00000252032.9:c.783G>T	p.Ala261=	p.A261=	ENST00000252032	NM_001009984.2	261	gcG/gcT	0	1	1	UPI0000470A8D	0		ENST00000252032		ENSG00000088854	17721		98			HGNC	p.A261A		C20orf194		SNV							ENST00000252032	protein_coding					A		A		851/6869				Q3KQR5_HUMAN			YES	C20orf194,synonymous_variant,p.=,ENST00000252032,NM_001009984.2;							LOW	783/3534		CT194_HUMAN			Transcript			.	ENSP00000252032		CCDS42851.1			1	
NIF3L1	0	LGGM	GRCh37	2	201760092	201760092	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000409020.1:c.705G>T	p.Thr235=	p.T235=	ENST00000409020		235	acG/acT	0	1	1	UPI0000169B54	0		ENST00000409020		ENSG00000196290	13390		67			HGNC	p.T235T		NIF3L1		SNV							ENST00000416651	protein_coding			hmmpanther:PTHR13799:SF13,hmmpanther:PTHR13799,TIGRFAM_domain:TIGR00486,Pfam_domain:PF01784,PIRSF_domain:PIRSF037490,Superfamily_domains:SSF102705		T		T		999/1680				Q658J0_HUMAN,E7EXA3_HUMAN,C9JN42_HUMAN,B8ZZI0_HUMAN			YES	NIF3L1,synonymous_variant,p.=,ENST00000409020,;NIF3L1,synonymous_variant,p.=,ENST00000409357,;NIF3L1,synonymous_variant,p.=,ENST00000359683,NM_021824.3;NIF3L1,synonymous_variant,p.=,ENST00000416651,NM_001142355.1,NM_001136039.2;NIF3L1,synonymous_variant,p.=,ENST00000409588,NM_001142356.1;NIF3L1,synonymous_variant,p.=,ENST00000426253,;NIF3L1,downstream_gene_variant,,ENST00000409129,;NIF3L1,downstream_gene_variant,,ENST00000454952,;NIF3L1,upstream_gene_variant,,ENST00000436412,;RNU6-762P,upstream_gene_variant,,ENST00000517107,;							LOW	705/1134		GTPC1_HUMAN			Transcript			.	ENSP00000386394		CCDS46485.1			1	
PARG	0	LGGM	GRCh37	10	51051625	51051625	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	5	.	.	ENST00000402038.3:c.952C>A	p.Arg318=	p.R318=	ENST00000402038	NM_003631.2	318	Cgg/Agg	0	1	1	UPI0000404B69	0		ENST00000402038		ENSG00000227345	8605		82			HGNC	p.R318R	rs368903583	PARG		SNV	T:0.0007			0.000929			ENST00000402038	protein_coding		A:0	hmmpanther:PTHR12837,Pfam_domain:PF05028		R	T:0	T		952/2537				B4DX76_HUMAN,B4DHS4_HUMAN	A:0	A:0	YES	PARG,synonymous_variant,p.=,ENST00000402038,NM_003631.2;		A:0.0002					LOW	952/1476		PARG_HUMAN		A:0.001	Transcript			common_variant	ENSP00000384408	7.56E-05			A:0	1	
FER	0	LGGM	GRCh37	5	108373161	108373161	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	5	.	.	ENST00000281092.4:c.1695G>T	p.Leu565Phe	p.L565F	ENST00000281092	NM_005246.2	565	ttG/ttT	0	1	1	UPI000013DC55	0	getma.org/pdb.php?prot=FER_HUMAN&from=563&to=814&var=L565F	ENST00000281092		ENSG00000151422	3655		57	1.645		HGNC	p.L565F		FER		SNV							ENST00000281092	protein_coding	getma.org/?cm=var&var=hg19,5,108373161,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF227,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF56112,Superfamily_domains:SSF55550		L/F		T	low	2079/12119		getma.org/?cm=msa&ty=f&p=FER_HUMAN&rb=563&re=814&var=L565F	deleterious(0)				YES	FER,missense_variant,p.Leu565Phe,ENST00000281092,NM_005246.2;FER,missense_variant,p.Leu390Phe,ENST00000438717,;FER,non_coding_transcript_exon_variant,,ENST00000505323,;FER,3_prime_UTR_variant,,ENST00000504143,;							MODERATE	1695/2469	L565F	FER_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000281092		CCDS4098.1			1	
GCSAM	0	LGGM	GRCh37	3	111842476	111842476	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000484193.1:c.369G>T	p.Leu123Phe	p.L123F	ENST00000484193		123	ttG/ttT	0	1		UPI000000D7DB	0	NA	ENST00000308910		ENSG00000174500	20253		62	1.61		HGNC	p.L104F		GCSAM		SNV							ENST00000488580	protein_coding	getma.org/?cm=var&var=hg19,3,111842476,C,A&fts=all				L/F		A	low	548/3336		getma.org/?cm=msa&ty=f&p=GCET2_HUMAN&rb=49&re=176&var=L121F	tolerated(0.23)	C9JY41_HUMAN,C9IY73_HUMAN				GCSAM,missense_variant,p.Leu121Phe,ENST00000308910,NM_001190259.1,NM_001190260.1,NM_152785.4;GCSAM,missense_variant,p.Leu123Phe,ENST00000484193,;GCSAM,missense_variant,p.Leu104Phe,ENST00000488580,;GCSAM,missense_variant,p.Leu104Phe,ENST00000487901,;GCSAM,missense_variant,p.Leu106Phe,ENST00000460387,;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,;							MODERATE	363/537	L121F	GCSAM_HUMAN			Transcript		possibly_damaging(0.663)	.	ENSP00000309487		CCDS2964.1			1	
USP19	0	LGGM	GRCh37	3	49153285	49153285	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	5	.	.	ENST00000434032.2:c.1558C>A	p.Gln520Lys	p.Q520K	ENST00000434032	NM_001199160.1	520	Cag/Aag	0	1		UPI00004BA927	0	NA	ENST00000398888		ENSG00000172046	12617		16	0.095		HGNC	p.Q520K		USP19		SNV							ENST00000434032	protein_coding	getma.org/?cm=var&var=hg19,3,49153285,G,T&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404		Q/K		T	neutral	1574/4559		getma.org/?cm=msa&ty=f&p=UBP19_HUMAN&rb=203&re=493&var=Q419K	tolerated(1)					USP19,missense_variant,p.Gln510Lys,ENST00000453664,NM_001199161.1,NM_001199162.1;USP19,missense_variant,p.Gln522Lys,ENST00000417901,;USP19,missense_variant,p.Gln520Lys,ENST00000434032,NM_001199160.1;USP19,missense_variant,p.Gln459Lys,ENST00000398892,;USP19,missense_variant,p.Gln419Lys,ENST00000398888,NM_006677.2;USP19,missense_variant,p.Gln459Lys,ENST00000398898,;USP19,missense_variant,p.Gln227Lys,ENST00000398896,;USP19,missense_variant,p.Gln507Lys,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;							MODERATE	1255/3957	Q419K	UBP19_HUMAN			Transcript		benign(0.04)	.	ENSP00000381863		CCDS43090.1			1	
EML6	0	LGGM	GRCh37	2	55106769	55106769	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	5	.	.	ENST00000356458.6:c.2430C>A	p.Ala810=	p.A810=	ENST00000356458	NM_001039753.2	810	gcC/gcA	0	1	1	UPI00006C0432	0		ENST00000356458		ENSG00000214595	35412		83			HGNC	p.A810A		EML6		SNV							ENST00000356458	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50998		A		A		2950/8320							YES	EML6,synonymous_variant,p.=,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000493997,;							LOW	2430/5877		EMAL6_HUMAN			Transcript			.	ENSP00000348842		CCDS46286.1			1	
PCDHGA7	0	LGGM	GRCh37	5	140764689	140764689	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	5	.	.	ENST00000518325.1:c.2223G>T	p.Val741=	p.V741=	ENST00000518325	NM_018920.2	741	gtG/gtT	0	1	1	UPI000007146F	0		ENST00000518325		ENSG00000253537	8705		69			HGNC	p.V741V		PCDHGA7		SNV							ENST00000518325	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56		V		T		2223/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA7,synonymous_variant,p.=,ENST00000518325,NM_018920.2;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;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;							LOW	2223/2799		PCDG7_HUMAN			Transcript			.	ENSP00000430024		CCDS54927.1			1	
DNAH5	0	LGGM	GRCh37	5	13885255	13885255	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	5	.	.	ENST00000265104.4:c.2826G>T	p.Thr942=	p.T942=	ENST00000265104	NM_001369.2	942	acG/acT	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		54			HGNC	p.T942T		DNAH5		SNV			1				ENST00000265104	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		T		A		2931/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							LOW	2826/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
EIF3I	0	LGGM	GRCh37	1	32694136	32694136	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	15	5	.	.	ENST00000373586.1:c.565C>A	p.Arg189=	p.R189=	ENST00000373586	NM_003757.2	189	Cgg/Agg	0	1	1	UPI000012D2FB	0		ENST00000373586		ENSG00000084623	3272		20			HGNC	p.R189R		EIF3I		SNV							ENST00000373586	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,HAMAP:MF_03008,hmmpanther:PTHR19877,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		R		A		637/1458				Q9P1D9_HUMAN,Q5U0F4_HUMAN,Q5TFK1_HUMAN			YES	EIF3I,synonymous_variant,p.=,ENST00000373586,NM_003757.2;EIF3I,downstream_gene_variant,,ENST00000355082,;EIF3I,non_coding_transcript_exon_variant,,ENST00000471486,;EIF3I,non_coding_transcript_exon_variant,,ENST00000483517,;EIF3I,non_coding_transcript_exon_variant,,ENST00000474371,;MTMR9LP,downstream_gene_variant,,ENST00000441044,;MTMR9LP,downstream_gene_variant,,ENST00000423995,;MTMR9LP,downstream_gene_variant,,ENST00000403496,;EIF3I,downstream_gene_variant,,ENST00000489353,;MTMR9LP,downstream_gene_variant,,ENST00000426597,;							LOW	565/978		EIF3I_HUMAN			Transcript			.	ENSP00000362688		CCDS357.1			1	
RAET1G	0	LGGM	GRCh37	6	150240747	150240747	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000367360.2:c.291G>T	p.Val97=	p.V97=	ENST00000367360	NM_001001788.2	97	gtG/gtT	0	1	1	UPI00003B0CBD	0		ENST00000367360		ENSG00000203722	16795		52			HGNC	p.V97V		RAET1G		SNV							ENST00000479265	protein_coding			hmmpanther:PTHR16675:SF135,hmmpanther:PTHR16675,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452		V		A		359/1107				J7HEM2_HUMAN			YES	RAET1G,synonymous_variant,p.=,ENST00000367360,NM_001001788.2;RAET1G,synonymous_variant,p.=,ENST00000479265,;RP11-244K5.8,downstream_gene_variant,,ENST00000606915,;RAET1E-AS1,downstream_gene_variant,,ENST00000446954,;RAET1E-AS1,downstream_gene_variant,,ENST00000605899,;RAET1G,synonymous_variant,p.=,ENST00000367361,;							LOW	291/1005		RET1G_HUMAN			Transcript			.	ENSP00000356329		CCDS43514.1			1	
MEN1	0	LGGM	GRCh37	11	64577137	64577137	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	5	.	.	ENST00000337652.1:c.445G>T	p.Gly149Cys	p.G149C	ENST00000337652	NM_130803.2	149	Ggt/Tgt	0	1	1	UPI0000246DC0	0	getma.org/pdb.php?prot=MEN1_HUMAN&from=1&to=615&var=G154C	ENST00000337652		ENSG00000133895	7010		54	2.015		HGNC	p.G149C		MEN1		SNV			1				ENST00000443283	protein_coding	getma.org/?cm=var&var=hg19,11,64577137,C,A&fts=all		hmmpanther:PTHR12693,hmmpanther:PTHR12693:SF3,Pfam_domain:PF05053		G/C		A	medium	949/3162		getma.org/?cm=msa&ty=f&p=MEN1_HUMAN&rb=1&re=615&var=G154C	deleterious(0)	Q9GZQ5_HUMAN			YES	MEN1,missense_variant,p.Gly149Cys,ENST00000337652,NM_130803.2;MEN1,missense_variant,p.Gly149Cys,ENST00000394374,NM_130802.2;MEN1,missense_variant,p.Gly149Cys,ENST00000377326,NM_130800.2,NM_130801.2;MEN1,missense_variant,p.Gly149Cys,ENST00000315422,;MEN1,missense_variant,p.Gly149Cys,ENST00000394376,NM_130804.2;MEN1,missense_variant,p.Gly149Cys,ENST00000377316,;MEN1,missense_variant,p.Gly149Cys,ENST00000443283,NM_000244.3;MEN1,missense_variant,p.Gly149Cys,ENST00000312049,NM_130799.2;MEN1,missense_variant,p.Gly149Cys,ENST00000377321,;MEN1,missense_variant,p.Gly149Cys,ENST00000377313,;MEN1,missense_variant,p.Gly149Cys,ENST00000440873,;MEN1,missense_variant,p.Gly149Cys,ENST00000450708,;MEN1,missense_variant,p.Gly149Cys,ENST00000413626,;MEN1,downstream_gene_variant,,ENST00000429702,;MEN1,downstream_gene_variant,,ENST00000424912,;MEN1,upstream_gene_variant,,ENST00000478548,;MEN1,upstream_gene_variant,,ENST00000487019,;							MODERATE	445/1848	G154C	MEN1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000337088		CCDS8083.1			1	
OR9A2	0	LGGM	GRCh37	7	142724094	142724094	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	5	.	.	ENST00000350513.2:c.126G>T	p.Thr42=	p.T42=	ENST00000350513	NM_001001658.1	42	acG/acT	0	1	1	UPI0000041C18	0		ENST00000350513		ENSG00000179468	15093		51			HGNC	p.T42T		OR9A2		SNV							ENST00000350513	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF126,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		T		A		189/1038				A4D2H9_HUMAN			YES	OR9A2,synonymous_variant,p.=,ENST00000350513,NM_001001658.1;							LOW	126/933		OR9A2_HUMAN			Transcript			.	ENSP00000316518		CCDS34767.1			1	
ZNF736	0	LGGM	GRCh37	7	63796677	63796677	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000423484.2:c.44C>A	p.Pro15Gln	p.P15Q	ENST00000423484		15	cCa/cAa	0	1		UPI0001662442	0	getma.org/pdb.php?prot=ZN736_HUMAN&from=4&to=44&var=P15Q	ENST00000355095		ENSG00000234444	32467		61	-1.405		HGNC	p.P15Q		ZNF736		SNV							ENST00000423484	protein_coding	getma.org/?cm=var&var=hg19,7,63796677,C,A&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79,SMART_domains:SM00349		P/Q		A	neutral	366/2098		getma.org/?cm=msa&ty=f&p=ZN736_HUMAN&rb=4&re=44&var=P15Q	tolerated(0.09)					ZNF736,missense_variant,p.Pro15Gln,ENST00000423484,;ZNF736,missense_variant,p.Pro15Gln,ENST00000355095,NM_001170905.1;ZNF736,downstream_gene_variant,,ENST00000438373,;ZNF736,non_coding_transcript_exon_variant,,ENST00000488621,;							MODERATE	44/1284	P15Q	ZN736_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000347210		CCDS55114.1			1	
CPT2	0	LGGM	GRCh37	1	53679028	53679028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000371486.3:c.1738G>T	p.Gly580Trp	p.G580W	ENST00000371486	NM_000098.2	580	Ggg/Tgg	0	1	1	UPI0000128303	0	getma.org/pdb.php?prot=CPT2_HUMAN&from=48&to=649&var=G580W	ENST00000371486		ENSG00000157184	2330		61	1.965		HGNC	p.G580W		CPT2		SNV			1				ENST00000371486	protein_coding	getma.org/?cm=var&var=hg19,1,53679028,G,T&fts=all		hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF51,Pfam_domain:PF00755,Superfamily_domains:SSF52777		G/W		T	medium	2253/3094		getma.org/?cm=msa&ty=f&p=CPT2_HUMAN&rb=48&re=649&var=G580W	deleterious(0.01)				YES	CPT2,missense_variant,p.Gly580Trp,ENST00000371486,NM_000098.2;C1orf123,downstream_gene_variant,,ENST00000294360,NM_017887.1;RP5-1024G6.2,non_coding_transcript_exon_variant,,ENST00000452466,;C1orf123,downstream_gene_variant,,ENST00000470385,;C1orf123,downstream_gene_variant,,ENST00000483739,;C1orf123,downstream_gene_variant,,ENST00000478839,;C1orf123,downstream_gene_variant,,ENST00000489755,;							MODERATE	1738/1977	G580W	CPT2_HUMAN			Transcript		possibly_damaging(0.856)	.	ENSP00000360541		CCDS575.1			1	
CDC5L	0	LGGM	GRCh37	6	44390419	44390419	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	5	.	.	ENST00000371477.3:c.1277G>T	p.Arg426Leu	p.R426L	ENST00000371477	NM_001253.3	426	cGg/cTg	0	1	1	UPI000006EE42	0	NA	ENST00000371477		ENSG00000096401	1743		89	1.365		HGNC	p.R426L		CDC5L		SNV							ENST00000371477	protein_coding	getma.org/?cm=var&var=hg19,6,44390419,G,T&fts=all		hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF17,Pfam_domain:PF11831		R/L		T	low	1576/6423		getma.org/?cm=msa&ty=f&p=CDC5L_HUMAN&rb=339&re=728&var=R426L	tolerated(0.08)				YES	CDC5L,missense_variant,p.Arg426Leu,ENST00000371477,NM_001253.3;							MODERATE	1277/2409	R426L	CDC5L_HUMAN			Transcript		benign(0.058)	.	ENSP00000360532		CCDS4912.1			1	
ITSN1	0	LGGM	GRCh37	21	35183305	35183305	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	95	5	.	.	ENST00000381318.3:c.2346C>A	p.Pro782=	p.P782=	ENST00000381318	NM_003024.2	782	ccC/ccA	0	1	1	UPI00001403C6	0		ENST00000381318		ENSG00000205726	6183		100			HGNC	p.P71Q		ITSN1		SNV							ENST00000419241	protein_coding			PROSITE_profiles:PS50002,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044		P		A		2634/17015				D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,synonymous_variant,p.=,ENST00000381318,NM_003024.2;ITSN1,synonymous_variant,p.=,ENST00000381285,;ITSN1,synonymous_variant,p.=,ENST00000399367,;ITSN1,synonymous_variant,p.=,ENST00000381291,NM_001001132.1;ITSN1,synonymous_variant,p.=,ENST00000399352,;ITSN1,synonymous_variant,p.=,ENST00000399349,;ITSN1,synonymous_variant,p.=,ENST00000399326,;ITSN1,synonymous_variant,p.=,ENST00000437442,;ITSN1,synonymous_variant,p.=,ENST00000399355,;ITSN1,synonymous_variant,p.=,ENST00000399353,;ITSN1,synonymous_variant,p.=,ENST00000379960,;ITSN1,synonymous_variant,p.=,ENST00000399338,;ITSN1,synonymous_variant,p.=,ENST00000440794,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,missense_variant,p.Pro71Gln,ENST00000419241,;ITSN1,upstream_gene_variant,,ENST00000465143,;							LOW	2346/5166		ITSN1_HUMAN			Transcript			.	ENSP00000370719		CCDS33545.1			1	
SLCO2A1	0	LGGM	GRCh37	3	133673995	133673995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	5	.	.	ENST00000310926.4:c.440G>T	p.Trp147Leu	p.W147L	ENST00000310926	NM_005630.2	147	tGg/tTg	0	1	1	UPI000013F0AD	0	NA	ENST00000310926		ENSG00000174640	10955		21	-1.1		HGNC	p.W147L		SLCO2A1		SNV			1				ENST00000481359	protein_coding	getma.org/?cm=var&var=hg19,3,133673995,C,A&fts=all		Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS50850		W/L		A	neutral	714/4223		getma.org/?cm=msa&ty=f&p=SO2A1_HUMAN&rb=31&re=603&var=W147L	tolerated(0.67)	Q4LEJ9_HUMAN			YES	SLCO2A1,missense_variant,p.Trp147Leu,ENST00000310926,NM_005630.2;SLCO2A1,intron_variant,,ENST00000493729,;SLCO2A1,downstream_gene_variant,,ENST00000478651,;SLCO2A1,missense_variant,p.Trp147Leu,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000464676,;SLCO2A1,intron_variant,,ENST00000462770,;							MODERATE	440/1932	W147L	SO2A1_HUMAN			Transcript		benign(0.002)	.	ENSP00000311291		CCDS3084.1			1	
MYT1	0	LGGM	GRCh37	20	62842674	62842674	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000328439.1:c.1407G>T	p.Lys469Asn	p.K469N	ENST00000328439	NM_004535.2	469	aaG/aaT	0	1	1	UPI000012FBFA	0	getma.org/pdb.php?prot=MYT1_HUMAN&from=439&to=469&var=K469N	ENST00000328439		ENSG00000196132	7622		41	1.61		HGNC	p.K469N		MYT1		SNV							ENST00000328439	protein_coding	getma.org/?cm=var&var=hg19,20,62842674,G,T&fts=all		Superfamily_domains:0042508,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10		K/N		T	low	1771/5533		getma.org/?cm=msa&ty=f&p=MYT1_HUMAN&rb=439&re=469&var=K469N					YES	MYT1,missense_variant,p.Lys469Asn,ENST00000536311,;MYT1,missense_variant,p.Lys469Asn,ENST00000328439,NM_004535.2;MYT1,missense_variant,p.Lys171Asn,ENST00000360149,;							MODERATE	1407/3366	K469N	MYT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000327465		CCDS13558.1			1	
ZNF85	0	LGGM	GRCh37	19	21132500	21132500	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000328178.8:c.1180G>T	p.Gly394Ter	p.G394*	ENST00000328178	NM_003429.4	394	Gga/Tga	0	1	1	UPI0000203897	0	NA	ENST00000328178		ENSG00000105750	13160		52	0		HGNC	p.G394X		ZNF85		SNV							ENST00000328178	protein_coding	getma.org/?cm=var&var=hg19,19,21132500,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/*		T	NA	1293/2296		NA		M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN			YES	ZNF85,stop_gained,p.Gly335Ter,ENST00000601023,;ZNF85,stop_gained,p.Gly394Ter,ENST00000328178,NM_003429.4,NM_001256173.1;ZNF85,stop_gained,p.Gly361Ter,ENST00000345030,;ZNF85,stop_gained,p.Gly342Ter,ENST00000596534,;ZNF85,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000601284,;							HIGH	1180/1788	G394*	ZNF85_HUMAN			Transcript			.	ENSP00000329793		CCDS32977.1			1	
SCN9A	0	LGGM	GRCh37	2	167094640	167094640	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	5	.	.	ENST00000409672.1:c.3732C>A	p.Thr1244=	p.T1244=	ENST00000409672	NM_002977.3	1244	acC/acA	0	1		UPI00015E0A2B	0		ENST00000303354		ENSG00000169432	10597		69			HGNC	p.T1256T		SCN9A		SNV			1				ENST00000303354	protein_coding			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,Superfamily_domains:SSF81324		T		T		4109/9787				E9PBA5_HUMAN				SCN9A,synonymous_variant,p.=,ENST00000303354,;SCN9A,synonymous_variant,p.=,ENST00000375387,;SCN9A,synonymous_variant,p.=,ENST00000409672,NM_002977.3;SCN9A,synonymous_variant,p.=,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;							LOW	3768/5970					Transcript			.	ENSP00000304748					1	
NDUFAF6	0	LGGM	GRCh37	8	96059336	96059336	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	5	.	.	ENST00000396124.4:c.695C>A	p.Pro232His	p.P232H	ENST00000396124	NM_152416.3	232	cCc/cAc	0	1	1	UPI0000F0A5CF	0	NA	ENST00000396124		ENSG00000156170	28625		46	3.405		HGNC	p.P232H		NDUFAF6		SNV			1				ENST00000396124	protein_coding	getma.org/?cm=var&var=hg19,8,96059336,C,A&fts=all		Gene3D:1.10.600.10,Pfam_domain:PF00494,hmmpanther:PTHR21181,hmmpanther:PTHR21181:SF13,Superfamily_domains:SSF48576		P/H		A	medium	718/1798		getma.org/?cm=msa&ty=f&p=CH038_HUMAN&rb=65&re=320&var=P232H	deleterious(0)	E5RHX9_HUMAN,E5RGD6_HUMAN			YES	NDUFAF6,missense_variant,p.Pro140His,ENST00000396113,;NDUFAF6,missense_variant,p.Pro140His,ENST00000396111,;NDUFAF6,missense_variant,p.Pro232His,ENST00000396124,NM_152416.3;NDUFAF6,missense_variant,p.Pro80His,ENST00000286687,;NDUFAF6,missense_variant,p.Pro180His,ENST00000542894,;NDUFAF6,downstream_gene_variant,,ENST00000523378,;NDUFAF6,downstream_gene_variant,,ENST00000519136,;NDUFAF6,downstream_gene_variant,,ENST00000519804,;NDUFAF6,upstream_gene_variant,,ENST00000523184,;NDUFAF6,3_prime_UTR_variant,,ENST00000520757,;NDUFAF6,3_prime_UTR_variant,,ENST00000518258,;NDUFAF6,3_prime_UTR_variant,,ENST00000517976,;NDUFAF6,3_prime_UTR_variant,,ENST00000454358,;NDUFAF6,downstream_gene_variant,,ENST00000520632,;NDUFAF6,downstream_gene_variant,,ENST00000523337,;NDUFAF6,downstream_gene_variant,,ENST00000518608,;							MODERATE	695/1002	P232H	NDUF6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379430		CCDS6266.2			1	
AOC3	0	LGGM	GRCh37	17	41003588	41003588	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	5	.	.	ENST00000308423.2:c.228C>A	p.Thr76=	p.T76=	ENST00000308423	NM_003734.3	76	acC/acA	0	1	1	UPI00000009FC	0		ENST00000308423		ENSG00000131471	550		46			HGNC	p.T76T		AOC3		SNV							ENST00000308423	protein_coding			Gene3D:3.10.450.40,Pfam_domain:PF02727,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF23,Superfamily_domains:SSF54416		T		A		388/4026				Q9UEU7_HUMAN,K7ESB3_HUMAN,K7EQZ5_HUMAN,K7EL47_HUMAN			YES	AOC3,synonymous_variant,p.=,ENST00000308423,NM_003734.3;AOC2,downstream_gene_variant,,ENST00000253799,NM_009590.2;AOC2,downstream_gene_variant,,ENST00000452774,NM_001158.3;AOC3,upstream_gene_variant,,ENST00000591562,NM_001277732.1;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000587330,;							LOW	228/2292		AOC3_HUMAN			Transcript			.	ENSP00000312326		CCDS11444.1			1	
KY	0	LGGM	GRCh37	3	134346652	134346652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	5	.	.	ENST00000423778.2:c.346G>T	p.Gly116Cys	p.G116C	ENST00000423778	NM_178554.4	116	Ggt/Tgt	0	1	1	UPI0000EE2109	0	NA	ENST00000423778		ENSG00000174611	26576		53	1.5		HGNC	p.G116C		KY		SNV							ENST00000423778	protein_coding	getma.org/?cm=var&var=hg19,3,134346652,C,A&fts=all		hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31		G/C		A	low	408/2345		getma.org/?cm=msa&ty=f&p=KY_HUMAN&rb=1&re=168&var=G116C	deleterious_low_confidence(0.04)				YES	KY,missense_variant,p.Gly95Cys,ENST00000508956,;KY,missense_variant,p.Gly116Cys,ENST00000423778,NM_178554.4;KY,missense_variant,p.Gly116Cys,ENST00000503669,;EPHB1,intron_variant,,ENST00000460895,;KY,non_coding_transcript_exon_variant,,ENST00000508041,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;							MODERATE	346/1986	G116C	KY_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000397598		CCDS46920.1			1	
EPSTI1	0	LGGM	GRCh37	13	43566195	43566195	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	18	5	.	.	ENST00000313640.7:c.107C>A	p.Pro36His	p.P36H	ENST00000313640	NM_001002264.2	36	cCc/cAc	0	1		UPI00016277A6	0	NA	ENST00000398762		ENSG00000133106	16465		23	1.1		HGNC	p.P36H		EPSTI1		SNV							ENST00000313640	protein_coding	getma.org/?cm=var&var=hg19,13,43566195,G,T&fts=all		hmmpanther:PTHR22529:SF1,hmmpanther:PTHR22529		P/H		T	low	107/957		getma.org/?cm=msa&ty=f&p=ESIP1_HUMAN&rb=1&re=315&var=P36H	tolerated(0.06)	F5H799_HUMAN				EPSTI1,missense_variant,p.Pro36His,ENST00000313640,NM_001002264.2;EPSTI1,missense_variant,p.Pro36His,ENST00000313624,NM_033255.3;EPSTI1,missense_variant,p.Pro36His,ENST00000398762,;EPSTI1,upstream_gene_variant,,ENST00000537828,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000476830,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000536042,;EPSTI1,upstream_gene_variant,,ENST00000542706,;EPSTI1,missense_variant,p.Pro36His,ENST00000538562,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;							MODERATE	107/957	P36H	ESIP1_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000381746					1	
C1orf86	0	LGGM	GRCh37	1	2129485	2129485	+	upstream_gene_variant	5'Flank	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	5	.	.				ENST00000378546	NM_182533.2			0	1	1	UPI000155D483	0	NA	ENST00000378546		ENSG00000162585	26428		97	0	3272	HGNC	p.P111Q		C1orf86		SNV							ENST00000378545	protein_coding	getma.org/?cm=var&var=hg19,1,2129485,G,T&fts=all						T	neutral	-/729		getma.org/?cm=msa&ty=f&p=Q6ZRT9_HUMAN&rb=1&re=150&var=P49Q					YES	C1orf86,missense_variant,p.Pro111Gln,ENST00000378545,NM_001282670.1;C1orf86,upstream_gene_variant,,ENST00000400919,NM_001282671.1;C1orf86,upstream_gene_variant,,ENST00000420515,NM_001256946.1;C1orf86,upstream_gene_variant,,ENST00000400918,;C1orf86,upstream_gene_variant,,ENST00000378546,NM_182533.2;C1orf86,upstream_gene_variant,,ENST00000378543,NM_001256947.1;C1orf86,non_coding_transcript_exon_variant,,ENST00000487186,;C1orf86,non_coding_transcript_exon_variant,,ENST00000401813,;C1orf86,non_coding_transcript_exon_variant,,ENST00000469733,;C1orf86,upstream_gene_variant,,ENST00000476803,;C1orf86,upstream_gene_variant,,ENST00000497675,;C1orf86,upstream_gene_variant,,ENST00000428120,NM_001282671.1;C1orf86,upstream_gene_variant,,ENST00000414253,NM_001282672.1;C1orf86,upstream_gene_variant,,ENST00000440825,;C1orf86,downstream_gene_variant,,ENST00000514625,;							MODIFIER	-/543	P49Q	FAP20_HUMAN			Transcript			.	ENSP00000367808		CCDS38.2			1	
BTBD3	0	LGGM	GRCh37	20	11900441	11900441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000405977.1:c.493C>A	p.Arg165Ser	p.R165S	ENST00000405977	NM_001282554.1	165	Cgt/Agt	0	1		UPI0000126B03	0	getma.org/pdb.php?prot=BTBD3_HUMAN&from=110&to=220&var=R165S	ENST00000378226		ENSG00000132640	15854		73	0.71		HGNC	p.R54S		BTBD3		SNV							ENST00000455911	protein_coding	getma.org/?cm=var&var=hg19,20,11900441,C,A&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF104,Pfam_domain:PF00651,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		R/S		A	neutral	852/4857		getma.org/?cm=msa&ty=f&p=BTBD3_HUMAN&rb=110&re=220&var=R165S	deleterious(0.04)	Q9NST6_HUMAN,Q52M42_HUMAN,B4DK27_HUMAN,B0QYR1_HUMAN,B0QYR0_HUMAN,B0QYQ9_HUMAN				BTBD3,missense_variant,p.Arg165Ser,ENST00000405977,NM_001282554.1,NM_001282550.1;BTBD3,missense_variant,p.Arg165Ser,ENST00000378226,NM_014962.2,NM_001282554.1,NM_001282550.1;BTBD3,missense_variant,p.Arg104Ser,ENST00000399006,NM_001282554.1,NM_001282551.1;BTBD3,missense_variant,p.Arg104Ser,ENST00000254977,NM_181443.1,NM_001282554.1;BTBD3,missense_variant,p.Arg104Ser,ENST00000422390,;BTBD3,missense_variant,p.Arg54Ser,ENST00000430557,;BTBD3,missense_variant,p.Arg54Ser,ENST00000455911,;BTBD3,downstream_gene_variant,,ENST00000450368,;RP4-742J24.2,upstream_gene_variant,,ENST00000439529,;BTBD3,non_coding_transcript_exon_variant,,ENST00000488503,;BTBD3,non_coding_transcript_exon_variant,,ENST00000471120,;BTBD3,non_coding_transcript_exon_variant,,ENST00000473416,;BTBD3,upstream_gene_variant,,ENST00000473180,;BTBD3,3_prime_UTR_variant,,ENST00000449299,;							MODERATE	493/1569	R165S	BTBD3_HUMAN			Transcript		benign(0.049)	.	ENSP00000367471		CCDS13113.1			1	
CRIM1	0	LGGM	GRCh37	2	36726469	36726469	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	83	5	.	.	ENST00000280527.2:c.1480C>A	p.Arg494=	p.R494=	ENST00000280527	NM_016441.2	494	Cgg/Agg	0	1	1	UPI000004C628	0		ENST00000280527		ENSG00000150938	2359		88			HGNC	p.R494R		CRIM1		SNV							ENST00000280527	protein_coding			PROSITE_profiles:PS51252,hmmpanther:PTHR11339,Pfam_domain:PF02822		R		A		1847/5912				Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN			YES	CRIM1,synonymous_variant,p.=,ENST00000280527,NM_016441.2;CRIM1,non_coding_transcript_exon_variant,,ENST00000481321,;							LOW	1480/3111		CRIM1_HUMAN			Transcript			.	ENSP00000280527		CCDS1783.1			1	
GPR98	0	LGGM	GRCh37	5	89999518	89999518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	5	.	.	ENST00000405460.2:c.8192C>A	p.Pro2731His	p.P2731H	ENST00000405460	NM_032119.3	2731	cCt/cAt	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=2677&to=2813&var=P2731H	ENST00000405460		ENSG00000164199	17416		64	2.015		HGNC	p.P2731H		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89999518,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		P/H		A	medium	8288/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2677&re=2813&var=P2731H					YES	GPR98,missense_variant,p.Pro2731His,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Pro297His,ENST00000509621,;							MODERATE	8192/18921	P2731H	GPR98_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000384582		CCDS47246.1			1	
SEMA3D	0	LGGM	GRCh37	7	84647585	84647585	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	5	.	.	ENST00000284136.6:c.1528G>T	p.Glu510Ter	p.E510*	ENST00000284136	NM_152754.2	510	Gaa/Taa	0	1	1	UPI0000135A66	0	NA	ENST00000284136		ENSG00000153993	10726		46	0		HGNC	p.E510X		SEMA3D		SNV			1				ENST00000284136	protein_coding	getma.org/?cm=var&var=hg19,7,84647585,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF36,SMART_domains:SM00630,Superfamily_domains:SSF101912		E/*		A	NA	1572/6265		NA					YES	SEMA3D,stop_gained,p.Glu510Ter,ENST00000284136,NM_152754.2;SEMA3D,non_coding_transcript_exon_variant,,ENST00000484038,;							HIGH	1528/2334	E510*	SEM3D_HUMAN			Transcript			.	ENSP00000284136		CCDS34676.1			1	
SWAP70	0	LGGM	GRCh37	11	9750892	9750892	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	5	.	.	ENST00000318950.6:c.792C>A	p.Ser264=	p.S264=	ENST00000318950	NM_015055.2	264	tcC/tcA	0	1	1	UPI0000073652	0		ENST00000318950		ENSG00000133789	17070		72			HGNC	p.S206S		SWAP70		SNV							ENST00000447399	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF6,SMART_domains:SM00233,Superfamily_domains:SSF50729		S		A		895/4882				E9PJM7_HUMAN			YES	SWAP70,splice_region_variant,p.=,ENST00000318950,NM_015055.2;SWAP70,splice_region_variant,p.=,ENST00000447399,;SWAP70,splice_region_variant,p.=,ENST00000534662,;SWAP70,splice_region_variant,,ENST00000524817,;SWAP70,splice_region_variant,,ENST00000534562,;SWAP70,downstream_gene_variant,,ENST00000526358,;SWAP70,downstream_gene_variant,,ENST00000531814,;							LOW	792/1758		SWP70_HUMAN			Transcript			.	ENSP00000315630		CCDS31426.1			1	
MYH15	0	LGGM	GRCh37	3	108195337	108195337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	5	.	.	ENST00000273353.3:c.1200G>T	p.Met400Ile	p.M400I	ENST00000273353	NM_014981.1	400	atG/atT	0	1	1	UPI0000253B6F	0	getma.org/pdb.php?prot=MYH15_HUMAN&from=105&to=778&var=M400I	ENST00000273353		ENSG00000144821	31073		50	2.145		HGNC	p.M400I		MYH15		SNV							ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108195337,C,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540		M/I		A	medium	1257/7074		getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=105&re=778&var=M400I	deleterious(0)	H9XFA0_HUMAN			YES	MYH15,missense_variant,p.Met400Ile,ENST00000273353,NM_014981.1;							MODERATE	1200/5841	M400I	MYH15_HUMAN			Transcript		benign(0.248)	.	ENSP00000273353		CCDS43127.1			1	
PCDHB4	0	LGGM	GRCh37	5	140502400	140502400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	83	5	.	.	ENST00000194152.1:c.820G>T	p.Gly274Trp	p.G274W	ENST00000194152	NM_018938.2	274	Ggg/Tgg	0	1	1	UPI00001273DF	0	getma.org/pdb.php?prot=PCDB4_HUMAN&from=246&to=337&var=G274W	ENST00000194152		ENSG00000081818	8689		88	4.445		HGNC	p.G274W		PCDHB4		SNV							ENST00000194152	protein_coding	getma.org/?cm=var&var=hg19,5,140502400,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/W		T	high	820/3621		getma.org/?cm=msa&ty=f&p=PCDB4_HUMAN&rb=246&re=337&var=G274W	deleterious(0)				YES	PCDHB4,missense_variant,p.Gly274Trp,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;							MODERATE	820/2388	G274W	PCDB4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000194152		CCDS4246.1			1	
FAT3	0	LGGM	GRCh37	11	92534795	92534795	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000298047.6:c.8616G>T	p.Thr2872=	p.T2872=	ENST00000298047		2872	acG/acT	0	1	1	UPI000050B6C6	0		ENST00000298047		ENSG00000165323	23112		74			HGNC	p.T2722T	rs756205074	FAT3		SNV							ENST00000525166	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		T		T		8633/19126	1.54E-05			E9PQ73_HUMAN			YES	FAT3,synonymous_variant,p.=,ENST00000298047,;FAT3,synonymous_variant,p.=,ENST00000409404,NM_001008781.2;FAT3,synonymous_variant,p.=,ENST00000525166,;							LOW	8616/13770		FAT3_HUMAN			Transcript			.	ENSP00000298047	8.26E-06				1	
INPP4B	0	LGGM	GRCh37	4	143003320	143003320	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000262992.4:c.2506G>T	p.Gly836Cys	p.G836C	ENST00000262992	NM_001101669.1	836	Ggt/Tgt	0	1		UPI000013D37A	0	NA	ENST00000262992		ENSG00000109452	6075		65	2.83		HGNC	p.G836C		INPP4B		SNV							ENST00000509777	protein_coding	getma.org/?cm=var&var=hg19,4,143003320,C,A&fts=all		hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187		G/C		A	medium	2723/3741		getma.org/?cm=msa&ty=f&p=INP4B_HUMAN&rb=782&re=924&var=G836C	deleterious(0)	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN				INPP4B,missense_variant,p.Gly836Cys,ENST00000513000,NM_003866.2;INPP4B,missense_variant,p.Gly836Cys,ENST00000509777,;INPP4B,missense_variant,p.Gly836Cys,ENST00000262992,NM_001101669.1;INPP4B,missense_variant,p.Gly836Cys,ENST00000508116,;INPP4B,missense_variant,p.Gly836Cys,ENST00000308502,;INPP4B,missense_variant,p.Gly651Cys,ENST00000511838,;INPP4B,downstream_gene_variant,,ENST00000510812,;INPP4B,downstream_gene_variant,,ENST00000514525,;INPP4B,3_prime_UTR_variant,,ENST00000512630,;							MODERATE	2506/2775	G836C	INP4B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262992		CCDS3757.1			1	
ARHGAP44	0	LGGM	GRCh37	17	12862063	12862063	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	5	.	.	ENST00000379672.5:c.1372G>T	p.Gly458Trp	p.G458W	ENST00000379672	NM_014859.4	458	Ggg/Tgg	0	1	1	UPI0000252116	0	NA	ENST00000379672		ENSG00000006740	29096		42	1.525		HGNC	p.G458W		ARHGAP44		SNV							ENST00000262444	protein_coding	getma.org/?cm=var&var=hg19,17,12862063,G,T&fts=all		hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF13		G/W		T	low	1672/4228		getma.org/?cm=msa&ty=f&p=RHG44_HUMAN&rb=420&re=619&var=G458W	deleterious(0)	J3QQU7_HUMAN			YES	ARHGAP44,missense_variant,p.Gly458Trp,ENST00000379672,NM_014859.4;ARHGAP44,missense_variant,p.Gly458Trp,ENST00000340825,;ARHGAP44,missense_variant,p.Gly458Trp,ENST00000262444,;ARHGAP44,missense_variant,p.Gly62Trp,ENST00000583608,;ARHGAP44,missense_variant,p.Gly458Trp,ENST00000544416,;ARHGAP44,3_prime_UTR_variant,,ENST00000580768,;ARHGAP44,non_coding_transcript_exon_variant,,ENST00000538915,;							MODERATE	1372/2457	G458W	RHG44_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000368994		CCDS45616.1			1	
COL24A1	0	LGGM	GRCh37	1	86334248	86334248	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	5	.	.	ENST00000370571.2:c.3254C>A	p.Pro1085Gln	p.P1085Q	ENST00000370571	NM_152890.5	1085	cCa/cAa	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		50	1.245		HGNC	p.P1085Q		COL24A1		SNV							ENST00000370571	protein_coding	getma.org/?cm=var&var=hg19,1,86334248,G,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		P/Q		T	low	3621/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=1083&re=1159&var=P1085Q	tolerated(0.26)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Pro1085Gln,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Pro1085Gln,ENST00000436319,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;							MODERATE	3254/5145	P1085Q	COOA1_HUMAN			Transcript		benign(0.212)	.	ENSP00000359603		CCDS41353.1			1	
CNOT6L	0	LGGM	GRCh37	4	78641592	78641592	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	5	.	.	ENST00000264903.4:c.1661G>T	p.Arg554Leu	p.R554L	ENST00000264903	NM_144571.2	554	cGg/cTg	0	1		UPI0000E445DF	0	getma.org/pdb.php?prot=CNO6L_HUMAN&from=530&to=555&var=R554L	ENST00000504123		ENSG00000138767	18042		80	2.125		HGNC	p.R561L		CNOT6L		SNV							ENST00000512485	protein_coding	getma.org/?cm=var&var=hg19,4,78641592,C,A&fts=all				R/L		A	medium	1792/8843		getma.org/?cm=msa&ty=f&p=CNO6L_HUMAN&rb=500&re=555&var=R554L	deleterious_low_confidence(0.01)	D6RGK9_HUMAN				CNOT6L,missense_variant,p.Arg554Leu,ENST00000504123,NM_001286790.1;CNOT6L,missense_variant,p.Arg554Leu,ENST00000264903,NM_144571.2;CNOT6L,missense_variant,p.Arg561Leu,ENST00000512485,;CNOT6L,3_prime_UTR_variant,,ENST00000515506,;CNOT6L,3_prime_UTR_variant,,ENST00000504804,;							MODERATE	1661/1668	R554L	CNO6L_HUMAN			Transcript		possibly_damaging(0.572)	.	ENSP00000424896		CCDS68731.1			1	
CTNNB1	0	LGGM	GRCh37	3	41268775	41268775	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	5	.	.	ENST00000349496.5:c.1013G>T	p.Trp338Leu	p.W338L	ENST00000349496	NM_001904.3	338	tGg/tTg	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=265&to=349&var=W338L	ENST00000349496		ENSG00000168036	2514		77	2.455		HGNC	p.W338L		CTNNB1		SNV			1				ENST00000396185	protein_coding	getma.org/?cm=var&var=hg19,3,41268775,G,T&fts=all		PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869		W/L		T	medium	1293/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=265&re=349&var=W338L	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Trp338Leu,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Trp338Leu,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Trp338Leu,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Trp331Leu,ENST00000453024,;CTNNB1,missense_variant,p.Trp338Leu,ENST00000405570,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000488914,;							MODERATE	1013/2346	W338L	CTNB1_HUMAN			Transcript		benign(0.231)	.	ENSP00000344456		CCDS2694.1			1	
SHISA3	0	LGGM	GRCh37	4	42403058	42403058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	5	.	.	ENST00000319234.4:c.307G>T	p.Gly103Cys	p.G103C	ENST00000319234	NM_001080505.1	103	Ggc/Tgc	0	1	1	UPI000020BC30	0	NA	ENST00000319234		ENSG00000178343	25159		92	2.585		HGNC	p.G103C		SHISA3		SNV							ENST00000319234	protein_coding	getma.org/?cm=var&var=hg19,4,42403058,G,T&fts=all		Pfam_domain:PF13908,hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF4,Transmembrane_helices:TMhelix		G/C		T	medium	525/1971		getma.org/?cm=msa&ty=f&p=SHSA3_HUMAN&rb=23&re=196&var=G103C	deleterious(0)				YES	SHISA3,missense_variant,p.Gly103Cys,ENST00000319234,NM_001080505.1;							MODERATE	307/717	G103C	SHSA3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000326445		CCDS33979.1			1	
IGHG1	0	LGGM	GRCh37	14	106208090	106208090	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	5	.	.	ENST00000390548.2:c.713G>T	p.Arg238Leu	p.R238L	ENST00000390548		238	cGg/cTg	0	1		UPI0000034C0E	0		ENST00000390549		ENSG00000211896	5525		43			HGNC	p.R203L		IGHG1		SNV			1				ENST00000390542	IG_C_gene			Superfamily_domains:SSF48726,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,PROSITE_profiles:PS50835		R/L		A		713/1128			tolerated(0.29)	Q6GMX6_HUMAN,Q5EFE5_HUMAN,A8K008_HUMAN				IGHG1,missense_variant,p.Arg238Leu,ENST00000390548,;IGHG1,missense_variant,p.Arg238Leu,ENST00000390549,;IGHG1,missense_variant,p.Arg203Leu,ENST00000390542,;							MODERATE	713/993		IGHG1_HUMAN			Transcript		benign(0.152)	.	ENSP00000374991					1	
TET2	0	LGGM	GRCh37	4	106156097	106156097	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	5	.	.	ENST00000380013.4:c.998C>A	p.Pro333Gln	p.P333Q	ENST00000380013	NM_001127208.2	333	cCa/cAa	0	1		UPI00001D75E4	0	NA	ENST00000380013		ENSG00000168769	25941		46	0.895		HGNC	p.P333Q		TET2		SNV			1				ENST00000413648	protein_coding	getma.org/?cm=var&var=hg19,4,106156097,C,A&fts=all		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3		P/Q		A	low	1384/9679		getma.org/?cm=msa&ty=f&p=TET2_HUMAN&rb=201&re=400&var=P333Q	tolerated(0.21)	E7EPB1_HUMAN,D6RE87_HUMAN				TET2,missense_variant,p.Pro354Gln,ENST00000513237,;TET2,missense_variant,p.Pro333Gln,ENST00000540549,;TET2,missense_variant,p.Pro333Gln,ENST00000545826,;TET2,missense_variant,p.Pro333Gln,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Pro333Gln,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Pro333Gln,ENST00000394764,;TET2,missense_variant,p.Pro333Gln,ENST00000413648,;TET2,downstream_gene_variant,,ENST00000514870,;TET2,missense_variant,p.Pro333Gln,ENST00000265149,;							MODERATE	998/6009	P333Q	TET2_HUMAN			Transcript		benign(0.024)	.	ENSP00000369351		CCDS47120.1			1	
CDKL3	0	LGGM	GRCh37	5	133655107	133655107	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000265334.4:c.734C>A	p.Pro245His	p.P245H	ENST00000265334	NM_001113575.1	245	cCc/cAc	0	1	1	UPI00000745AD	0	getma.org/pdb.php?prot=CDKL3_HUMAN&from=4&to=286&var=P245H	ENST00000265334		ENSG00000006837	15483		70	1.53		HGNC	p.P56H		CDKL3		SNV							ENST00000523054	protein_coding	getma.org/?cm=var&var=hg19,5,133655107,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF177,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/H		T	low	853/2127		getma.org/?cm=msa&ty=f&p=CDKL3_HUMAN&rb=4&re=286&var=P245H	tolerated(0.47)				YES	CDKL3,missense_variant,p.Pro245His,ENST00000521118,;CDKL3,missense_variant,p.Pro245His,ENST00000265334,NM_001113575.1;CDKL3,missense_variant,p.Pro56His,ENST00000523054,;CDKL3,missense_variant,p.Pro56His,ENST00000609654,;CDKL3,missense_variant,p.Pro245His,ENST00000435211,NM_016508.3;CDKL3,missense_variant,p.Pro245His,ENST00000523832,;CDKL3,5_prime_UTR_variant,,ENST00000435240,;CDKL3,intron_variant,,ENST00000536186,;CDKL3,intron_variant,,ENST00000609383,;CDKL3,intron_variant,,ENST00000521755,;CDKL3,non_coding_transcript_exon_variant,,ENST00000522501,;CTD-2410N18.4,intron_variant,,ENST00000518409,;CDKL3,missense_variant,p.Pro56His,ENST00000520693,;CDKL3,missense_variant,p.Pro56His,ENST00000519312,;CTD-2410N18.4,non_coding_transcript_exon_variant,,ENST00000520515,;CDKL3,upstream_gene_variant,,ENST00000520592,;							MODERATE	734/1779	P245H	CDKL3_HUMAN			Transcript		benign(0.091)	.	ENSP00000265334		CCDS47264.1			1	
MUC16	0	LGGM	GRCh37	19	8997482	8997482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000397910.4:c.40940G>T	p.Arg13647Leu	p.R13647L	ENST00000397910	NM_024690.2	13647	cGg/cTg	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13636&to=13744&var=H13649L	ENST00000397910		ENSG00000181143	15582		70	0.605		HGNC	p.R13647L		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,8997482,C,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		R/L		A	neutral	41144/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13636&re=13744&var=H13649L		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Arg13647Leu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Arg487Leu,ENST00000599436,;MUC16,missense_variant,p.Arg288Leu,ENST00000380951,;MUC16,missense_variant,p.Arg487Leu,ENST00000601404,;MUC16,missense_variant,p.Arg267Leu,ENST00000596768,;							MODERATE	40940/43524	H13649L				Transcript		probably_damaging(0.95)	.	ENSP00000381008		CCDS54212.1			1	
LYPLA1	0	LGGM	GRCh37	8	54960670	54960670	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	5	.	.	ENST00000316963.3:c.648G>T	p.Met216Ile	p.M216I	ENST00000316963	NM_001279357.1	216	atG/atT	0	1	1	UPI0000072858	0	getma.org/pdb.php?prot=LYPA1_HUMAN&from=8&to=226&var=M216I	ENST00000316963		ENSG00000120992	6737		75	0.14		HGNC	p.M200I		LYPLA1		SNV							ENST00000343231	protein_coding	getma.org/?cm=var&var=hg19,8,54960670,C,A&fts=all		hmmpanther:PTHR10655:SF22,hmmpanther:PTHR10655,Pfam_domain:PF02230,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		M/I		A	neutral	842/2574		getma.org/?cm=msa&ty=f&p=LYPA1_HUMAN&rb=8&re=226&var=M216I	tolerated(0.22)	Q6IAQ1_HUMAN,E5RJ48_HUMAN,B4DJV9_HUMAN			YES	LYPLA1,missense_variant,p.Met216Ile,ENST00000316963,NM_001279357.1,NM_006330.3,NM_001279356.1,NM_001279358.1,NM_001279359.1,NM_001279360.1;LYPLA1,missense_variant,p.Met200Ile,ENST00000343231,;LYPLA1,downstream_gene_variant,,ENST00000518546,;LYPLA1,downstream_gene_variant,,ENST00000521352,;LYPLA1,downstream_gene_variant,,ENST00000522007,;RP11-30L15.6,upstream_gene_variant,,ENST00000565668,;LYPLA1,non_coding_transcript_exon_variant,,ENST00000519272,;LYPLA1,non_coding_transcript_exon_variant,,ENST00000520718,;LYPLA1,downstream_gene_variant,,ENST00000519891,;							MODERATE	648/693	M216I	LYPA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000320043		CCDS6157.1			1	
HIVEP1	0	LGGM	GRCh37	6	12125963	12125963	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	5	.	.	ENST00000379388.2:c.5935G>T	p.Gly1979Cys	p.G1979C	ENST00000379388	NM_002114.2	1979	Ggt/Tgt	0	1	1	UPI000020D52B	0	NA	ENST00000379388		ENSG00000095951	4920		81	2.85		HGNC	p.G1979C		HIVEP1		SNV							ENST00000379388	protein_coding	getma.org/?cm=var&var=hg19,6,12125963,G,T&fts=all		hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233		G/C		T	medium	6267/9027		getma.org/?cm=msa&ty=f&p=ZEP1_HUMAN&rb=513&re=2064&var=G1979C	deleterious(0)	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN			YES	HIVEP1,missense_variant,p.Gly1979Cys,ENST00000379388,NM_002114.2;HIVEP1,intron_variant,,ENST00000442081,;HIVEP1,upstream_gene_variant,,ENST00000541134,;HIVEP1,upstream_gene_variant,,ENST00000399469,;							MODERATE	5935/8157	G1979C	ZEP1_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000368698		CCDS43426.1			1	
SYNE1	0	LGGM	GRCh37	6	152706897	152706897	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000367255.5:c.8564G>T	p.Trp2855Leu	p.W2855L	ENST00000367255	NM_182961.3	2855	tGg/tTg	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		73	2.24		HGNC	p.W2855L		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152706897,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966		W/L		A	medium	9166/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=2684&re=2883&var=W2855L					YES	SYNE1,missense_variant,p.Trp2855Leu,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Trp2855Leu,ENST00000265368,;SYNE1,missense_variant,p.Trp2862Leu,ENST00000448038,;SYNE1,missense_variant,p.Trp2862Leu,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Trp2894Leu,ENST00000341594,;SYNE1,upstream_gene_variant,,ENST00000454018,;SYNE1-AS1,downstream_gene_variant,,ENST00000412161,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,upstream_gene_variant,,ENST00000471834,;							MODERATE	8564/26394	W2855L	SYNE1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000356224		CCDS5236.2			1	
DIDO1	0	LGGM	GRCh37	20	61513702	61513702	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000266070.4:c.3606C>A	p.Pro1202=	p.P1202=	ENST00000266070	NM_033081.2	1202	ccC/ccA	0	1	1	UPI0000206380	0		ENST00000266070		ENSG00000101191	2680		47			HGNC	p.P1202P		DIDO1		SNV							ENST00000266070	protein_coding			hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914		P		T		3932/8544							YES	DIDO1,synonymous_variant,p.=,ENST00000266070,NM_033081.2;DIDO1,synonymous_variant,p.=,ENST00000395343,NM_001193369.1;DIDO1,downstream_gene_variant,,ENST00000395335,NM_080797.3;DIDO1,downstream_gene_variant,,ENST00000395340,NM_001193370.1;							LOW	3606/6723		DIDO1_HUMAN			Transcript			.	ENSP00000266070		CCDS33506.1			1	
LAMB1	0	LGGM	GRCh37	7	107602049	107602049	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	5	.	.	ENST00000222399.6:c.1930G>T	p.Gly644Cys	p.G644C	ENST00000222399	NM_002291.2	644	Ggt/Tgt	0	1	1	UPI00001AE63F	0	NA	ENST00000222399		ENSG00000091136	6486		66	2.365		HGNC	p.G644C		LAMB1		SNV			1				ENST00000393560	protein_coding	getma.org/?cm=var&var=hg19,7,107602049,C,A&fts=all		PROSITE_profiles:PS51116,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233		G/C		A	medium	2161/5725		getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=549&re=767&var=G644C	deleterious(0)	Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,missense_variant,p.Gly668Cys,ENST00000393561,;LAMB1,missense_variant,p.Gly644Cys,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Gly644Cys,ENST00000393560,;							MODERATE	1930/5361	G644C	LAMB1_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000222399		CCDS5750.1			1	
AHNAK	0	LGGM	GRCh37	11	62298478	62298478	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	5	.	.	ENST00000378024.4:c.3411C>A	p.Pro1137=	p.P1137=	ENST00000378024	NM_001620.2	1137	ccC/ccA	0	1	1	UPI00004EC29C	0		ENST00000378024		ENSG00000124942	347		77			HGNC	p.P1137P		AHNAK		SNV							ENST00000378024	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		P		T		3686/18787				E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	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,;							LOW	3411/17673		AHNK_HUMAN			Transcript			.	ENSP00000367263		CCDS31584.1			1	
LRP1	0	LGGM	GRCh37	12	57588225	57588225	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	5	.	.	ENST00000243077.3:c.8007C>A	p.Pro2669=	p.P2669=	ENST00000243077	NM_002332.2	2669	ccC/ccA	0	1	1	UPI00001B044F	0		ENST00000243077		ENSG00000123384	6692		24			HGNC	p.P2669P		LRP1		SNV							ENST00000243077	protein_coding			Gene3D:1n7dA02,Pfam_domain:PF00057,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00192,Superfamily_domains:SSF57424		P		A		8473/14897				Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,synonymous_variant,p.=,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000554118,;MIR1228,upstream_gene_variant,,ENST00000408438,;							LOW	8007/13635		LRP1_HUMAN			Transcript			.	ENSP00000243077		CCDS8932.1			1	
STRIP1	0	LGGM	GRCh37	1	110587520	110587520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	5	.	.	ENST00000369795.3:c.1345C>A	p.Leu449Ile	p.L449I	ENST00000369795	NM_033088.3	449	Cta/Ata	0	1	1	UPI0000160E65	0	NA	ENST00000369795		ENSG00000143093	25916		49	2.695		HGNC	p.L354I		STRIP1		SNV							ENST00000369796	protein_coding	getma.org/?cm=var&var=hg19,1,110587520,C,A&fts=all		Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF5		L/I		A	medium	1367/3265		getma.org/?cm=msa&ty=f&p=FA40A_HUMAN&rb=415&re=817&var=L449I	deleterious(0.04)				YES	STRIP1,missense_variant,p.Leu449Ile,ENST00000369795,NM_033088.3;STRIP1,missense_variant,p.Leu354Ile,ENST00000369796,NM_001270768.1;STRIP1,upstream_gene_variant,,ENST00000461054,;STRIP1,3_prime_UTR_variant,,ENST00000485775,;STRIP1,non_coding_transcript_exon_variant,,ENST00000473429,;STRIP1,non_coding_transcript_exon_variant,,ENST00000535003,;STRIP1,non_coding_transcript_exon_variant,,ENST00000539541,;							MODERATE	1345/2514	L449I	STRP1_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000358810		CCDS30798.1			1	
VIP	0	LGGM	GRCh37	6	153075304	153075304	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	5	.	.	ENST00000367244.3:c.111G>T	p.Leu37Phe	p.L37F	ENST00000367244	NM_003381.3	37	ttG/ttT	0	1	1	UPI000003B343	0	NA	ENST00000367244		ENSG00000146469	12693		27	0.975		HGNC	p.L37F	COSM375859	VIP		SNV						1	ENST00000367243	protein_coding	getma.org/?cm=var&var=hg19,6,153075304,G,T&fts=all		hmmpanther:PTHR11213:SF5,hmmpanther:PTHR11213		L/F		T	low	283/1584		getma.org/?cm=msa&ty=f&p=VIP_HUMAN&rb=1&re=80&var=L37F	deleterious(0.02)				YES	VIP,missense_variant,p.Leu37Phe,ENST00000367244,NM_003381.3;VIP,missense_variant,p.Leu37Phe,ENST00000367243,NM_194435.2;VIP,upstream_gene_variant,,ENST00000431366,;					1		MODERATE	111/513	L37F	VIP_HUMAN			Transcript		benign(0.225)	.	ENSP00000356213		CCDS5240.1			1	
HEATR5B	0	LGGM	GRCh37	2	37310504	37310504	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	5	.	.	ENST00000233099.5:c.54C>A	p.Thr18=	p.T18=	ENST00000233099	NM_019024.1	18	acC/acA	0	1	1	UPI0000160DCD	0		ENST00000233099		ENSG00000008869	29273		63			HGNC	p.T18T		HEATR5B		SNV							ENST00000233099	protein_coding			hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371		T		T		150/6905							YES	HEATR5B,synonymous_variant,p.=,ENST00000233099,NM_019024.1;HEATR5B,synonymous_variant,p.=,ENST00000354531,;GPATCH11,upstream_gene_variant,,ENST00000409774,NM_174931.3;GPATCH11,upstream_gene_variant,,ENST00000281932,NM_001278505.1;GPATCH11,upstream_gene_variant,,ENST00000608836,;							LOW	54/6216		HTR5B_HUMAN			Transcript			.	ENSP00000233099		CCDS33181.1			1	
NYNRIN	0	LGGM	GRCh37	14	24877547	24877547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	10	5	.	.	ENST00000382554.3:c.671C>A	p.Pro224His	p.P224H	ENST00000382554	NM_025081.2	224	cCt/cAt	0	1	1	UPI0000251E63	0	NA	ENST00000382554		ENSG00000205978	20165		15	0.695		HGNC	p.P224H		NYNRIN		SNV							ENST00000382554	protein_coding	getma.org/?cm=var&var=hg19,14,24877547,C,A&fts=all		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF2		P/H		A	neutral	989/7857		getma.org/?cm=msa&ty=f&p=NYNRI_HUMAN&rb=201&re=774&var=P224H	deleterious_low_confidence(0)				YES	NYNRIN,missense_variant,p.Pro224His,ENST00000382554,NM_025081.2;NYNRIN,upstream_gene_variant,,ENST00000554505,;							MODERATE	671/5697	P224H	NYNRI_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000371994		CCDS45090.1			1	
CCDC62	0	LGGM	GRCh37	12	123262044	123262044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	5	.	.	ENST00000253079.6:c.43G>T	p.Gly15Trp	p.G15W	ENST00000253079	NM_201435.4	15	Ggg/Tgg	0	1	1	UPI0000366924	0	NA	ENST00000253079		ENSG00000130783	30723		37	1.5		HGNC	p.G15W		CCDC62		SNV							ENST00000392441	protein_coding	getma.org/?cm=var&var=hg19,12,123262044,G,T&fts=all				G/W		T	low	387/3546		getma.org/?cm=msa&ty=f&p=CCD62_HUMAN&rb=9&re=672&var=G15W	deleterious(0.01)				YES	CCDC62,missense_variant,p.Gly15Trp,ENST00000253079,NM_201435.4;CCDC62,missense_variant,p.Gly15Trp,ENST00000392441,;CCDC62,5_prime_UTR_variant,,ENST00000537566,;CCDC62,intron_variant,,ENST00000539171,;CCDC62,upstream_gene_variant,,ENST00000392440,;CCDC62,missense_variant,p.Gly15Trp,ENST00000341952,;							MODERATE	43/2055	G15W	CCD62_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000253079		CCDS9238.1			1	
ST8SIA6	0	LGGM	GRCh37	10	17363243	17363243	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	5	.	.	ENST00000377602.4:c.831G>T	p.Thr277=	p.T277=	ENST00000377602	NM_001004470.1	277	acG/acT	0	1	1	UPI0000359594	0		ENST00000377602		ENSG00000148488	23317		95			HGNC	p.T277T		ST8SIA6		SNV							ENST00000377602	protein_coding			Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF29		T		A		906/2276							YES	ST8SIA6,synonymous_variant,p.=,ENST00000377602,NM_001004470.1;ST8SIA6,synonymous_variant,p.=,ENST00000440449,;							LOW	831/1197		SIA8F_HUMAN			Transcript			.	ENSP00000366827		CCDS31158.1			1	
SULT2A1	0	LGGM	GRCh37	19	48382337	48382337	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000222002.3:c.523G>T	p.Glu175Ter	p.E175*	ENST00000222002	NM_003167.3	175	Gag/Tag	0	1	1	UPI000013C7E8	0	NA	ENST00000222002		ENSG00000105398	11458	8.64E-05	84	0		HGNC	p.E175X	rs771096303	SULT2A1		SNV							ENST00000222002	protein_coding	getma.org/?cm=var&var=hg19,19,48382337,C,A&fts=all		hmmpanther:PTHR11783:SF8,hmmpanther:PTHR11783,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		E/*		A	NA	663/1987		NA		A8K015_HUMAN			YES	SULT2A1,stop_gained,p.Glu175Ter,ENST00000222002,NM_003167.3;	0.000116						HIGH	523/858	E175*	ST2A1_HUMAN			Transcript			.	ENSP00000222002	1.65E-05	CCDS12707.1			1	
NXPE4	0	LGGM	GRCh37	11	114441771	114441771	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	5	.	.	ENST00000375478.3:c.1524G>T	p.Val508=	p.V508=	ENST00000375478	NM_001077639.1	508	gtG/gtT	0	1	1	UPI00000477F3	0		ENST00000375478		ENSG00000137634	23117		76			HGNC	p.V224V		NXPE4		SNV							ENST00000424261	protein_coding			hmmpanther:PTHR16165,hmmpanther:PTHR16165:SF3		V		A		1705/1822							YES	NXPE4,synonymous_variant,p.=,ENST00000375478,NM_001077639.1;NXPE4,synonymous_variant,p.=,ENST00000424261,NM_017678.2;							LOW	1524/1635		NXPE4_HUMAN			Transcript			.	ENSP00000364627		CCDS41718.1			1	
GREB1L	0	LGGM	GRCh37	18	18981176	18981176	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000580732.2:c.598C>A	p.His200Asn	p.H200N	ENST00000580732		200	Cac/Aac	0	1		UPI0001642876	0	NA	ENST00000424526		ENSG00000141449	31042		62	2.34		HGNC	p.H200N		GREB1L		SNV							ENST00000580732	protein_coding	getma.org/?cm=var&var=hg19,18,18981176,C,A&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12		H/N		A	medium	869/6052		getma.org/?cm=msa&ty=f&p=GRB1L_HUMAN&rb=1&re=1921&var=H200N	deleterious(0)					GREB1L,missense_variant,p.His200Asn,ENST00000580732,;GREB1L,missense_variant,p.His200Asn,ENST00000424526,NM_001142966.1;GREB1L,missense_variant,p.His200Asn,ENST00000400483,;GREB1L,missense_variant,p.His200Asn,ENST00000269218,;GREB1L,missense_variant,p.His200Asn,ENST00000431264,;GREB1L,upstream_gene_variant,,ENST00000579454,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;							MODERATE	598/5772	H200N	GRB1L_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000412060		CCDS45836.1			1	
FAM104A	0	LGGM	GRCh37	17	71223314	71223314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000405159.3:c.311G>T	p.Trp104Leu	p.W104L	ENST00000405159	NM_001098832.1	104	tGg/tTg	0	1		UPI00004432F0	0	NA	ENST00000403627		ENSG00000133193	25918		52	1.95		HGNC	p.W37L		FAM104A		SNV							ENST00000579872	protein_coding	getma.org/?cm=var&var=hg19,17,71223314,C,A&fts=all		Pfam_domain:PF15434		W/L		A	medium	372/2798		getma.org/?cm=msa&ty=f&p=F104A_HUMAN&rb=71&re=184&var=W104L	deleterious(0.04)					FAM104A,missense_variant,p.Trp104Leu,ENST00000405159,NM_001098832.1;FAM104A,missense_variant,p.Trp104Leu,ENST00000403627,NM_032837.2;FAM104A,missense_variant,p.Trp37Leu,ENST00000579872,;FAM104A,missense_variant,p.Gly77Trp,ENST00000583024,;FAM104A,5_prime_UTR_variant,,ENST00000580032,;FAM104A,intron_variant,,ENST00000581110,;FAM104A,non_coding_transcript_exon_variant,,ENST00000583178,;							MODERATE	311/561	W104L	F104A_HUMAN			Transcript		benign(0.053)	.	ENSP00000384648		CCDS11693.2			1	
ASTN1	0	LGGM	GRCh37	1	176915087	176915087	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	5	.	.	ENST00000361833.2:c.2224N>T	p.Gly742Ter	p.G742*	ENST00000361833		742	Gga/Tga	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		68	0		HGNC	p.G750X	COSM676854	ASTN1		SNV						1	ENST00000367654	protein_coding	getma.org/?cm=var&var=hg19,1,176915087,C,A&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8		G/*		A	NA	2238/7116		NA		Q96BL7_HUMAN			YES	ASTN1,stop_gained,p.Gly750Ter,ENST00000367654,NM_004319.1;ASTN1,stop_gained,p.Gly742Ter,ENST00000361833,;ASTN1,stop_gained,p.Gly742Ter,ENST00000367657,NM_001286164.1;ASTN1,stop_gained,p.Gly742Ter,ENST00000424564,NM_207108.1;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;					1		HIGH	2224/3885	G750*	ASTN1_HUMAN			Transcript			.	ENSP00000354536		CCDS1319.1			1	
PIK3R4	0	LGGM	GRCh37	3	130398286	130398286	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	5	.	.	ENST00000356763.3:c.3950C>A	p.Pro1317His	p.P1317H	ENST00000356763	NM_014602.2	1317	cCt/cAt	0	1	1	UPI0000071EF3	0	NA	ENST00000356763		ENSG00000196455	8982		30	1.845		HGNC	p.P1317H		PIK3R4		SNV							ENST00000356763	protein_coding	getma.org/?cm=var&var=hg19,3,130398286,G,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR17583		P/H		T	low	4508/5015		getma.org/?cm=msa&ty=f&p=PI3R4_HUMAN&rb=1270&re=1322&var=P1317H	deleterious(0.01)	D6RJ98_HUMAN,D6RBB7_HUMAN,D6RAC3_HUMAN			YES	PIK3R4,missense_variant,p.Pro1317His,ENST00000356763,NM_014602.2;COL6A6,downstream_gene_variant,,ENST00000358511,NM_001102608.1;COL6A6,downstream_gene_variant,,ENST00000453409,;PIK3R4,downstream_gene_variant,,ENST00000512677,;PIK3R4,non_coding_transcript_exon_variant,,ENST00000511760,;COL6A6,downstream_gene_variant,,ENST00000506143,;PIK3R4,downstream_gene_variant,,ENST00000512362,;							MODERATE	3950/4077	P1317H	PI3R4_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000349205		CCDS3067.1			1	
WDR52	0	LGGM	GRCh37	3	113139016	113139016	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	5	.	.	ENST00000393845.2:c.418G>T	p.Gly140Cys	p.G140C	ENST00000393845	NM_001164496.1	140	Ggt/Tgt	0	1		UPI000006D67B	0	NA	ENST00000295868		ENSG00000206530	25631		25	2.135		HGNC	p.G140C		WDR52		SNV							ENST00000295868	protein_coding	getma.org/?cm=var&var=hg19,3,113139016,C,A&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18		G/C		A	medium	581/3377		getma.org/?cm=msa&ty=f&p=WDR52_HUMAN&rb=1&re=200&var=G140C	deleterious(0)	C9K0A4_HUMAN				WDR52,missense_variant,p.Gly140Cys,ENST00000393845,NM_001164496.1;WDR52,missense_variant,p.Gly140Cys,ENST00000295868,NM_018338.3;WDR52-AS1,intron_variant,,ENST00000498480,;WDR52-AS1,intron_variant,,ENST00000473329,;WDR52,intron_variant,,ENST00000488854,;WDR52,intron_variant,,ENST00000489938,;							MODERATE	418/2949	G140C	WDR52_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000295868		CCDS2972.1			1	
TLR2	0	LGGM	GRCh37	4	154624356	154624356	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000260010.6:c.297G>T	p.Leu99=	p.L99=	ENST00000260010	NM_003264.3	99	ctG/ctT	0	1	1	UPI0000137051	0		ENST00000260010		ENSG00000137462	11848		47			HGNC	p.L99L		TLR2		SNV			1				ENST00000260010	protein_coding			hmmpanther:PTHR24365:SF17,hmmpanther:PTHR24365,Pfam_domain:PF13855,Gene3D:3.80.10.10,PIRSF_domain:PIRSF037595,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52047		L		T		1705/4200				K9MV98_HUMAN,C6KIA6_HUMAN			YES	TLR2,synonymous_variant,p.=,ENST00000260010,NM_003264.3;							LOW	297/2355		TLR2_HUMAN			Transcript			.	ENSP00000260010		CCDS3784.1			1	
TNR	0	LGGM	GRCh37	1	175292522	175292522	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	5	.	.	ENST00000367674.2:c.4048G>T	p.Gly1350Trp	p.G1350W	ENST00000367674		1350	Ggg/Tgg	0	1		UPI000013D41C	0	NA	ENST00000263525		ENSG00000116147	11953		42	1.975		HGNC	p.G1350W	COSM530848	TNR		SNV						1	ENST00000263525	protein_coding	getma.org/?cm=var&var=hg19,1,175292522,C,A&fts=all		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF39		G/W		A	medium	4603/5190		getma.org/?cm=msa&ty=f&p=TENR_HUMAN&rb=1314&re=1358&var=G1350W	deleterious(0)	A1L306_HUMAN				TNR,missense_variant,p.Gly1350Trp,ENST00000367674,;TNR,missense_variant,p.Gly1350Trp,ENST00000263525,NM_003285.2;RP3-518E13.2,intron_variant,,ENST00000569593,;					1		MODERATE	4048/4077	G1350W	TENR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263525		CCDS1318.1			1	
TRIM45	0	LGGM	GRCh37	1	117661294	117661294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	5	.	.	ENST00000256649.4:c.584C>A	p.Pro195His	p.P195H	ENST00000256649	NM_025188.3	195	cCt/cAt	0	1	1	UPI000013CF1E	0	getma.org/pdb.php?prot=TRI45_HUMAN&from=186&to=227&var=P195H	ENST00000256649		ENSG00000134253	19018		40	2.22		HGNC	p.P195H		TRIM45		SNV							ENST00000369464	protein_coding	getma.org/?cm=var&var=hg19,1,117661294,G,T&fts=all		Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF244,SMART_domains:SM00336,Superfamily_domains:SSF57845		P/H		T	medium	1111/3515		getma.org/?cm=msa&ty=f&p=TRI45_HUMAN&rb=186&re=227&var=P195H	deleterious(0.01)	S4R407_HUMAN			YES	TRIM45,missense_variant,p.Pro195His,ENST00000256649,NM_025188.3;TRIM45,missense_variant,p.Pro195His,ENST00000369464,NM_001145635.1;TRIM45,missense_variant,p.Pro138His,ENST00000369461,;TRIM45,missense_variant,p.Pro91His,ENST00000485032,;TRIM45,upstream_gene_variant,,ENST00000497970,;							MODERATE	584/1743	P195H	TRI45_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000256649		CCDS893.1			1	
SLC44A3	0	LGGM	GRCh37	1	95293195	95293195	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000271227.6:c.411C>A	p.Thr137=	p.T137=	ENST00000271227	NM_001258340.1	137	acC/acA	0	1	1	UPI0000206066	0		ENST00000271227		ENSG00000143036	28689		52			HGNC	p.T137T		SLC44A3		SNV							ENST00000271227	protein_coding			hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF13		T		A		513/2388				F8W7F3_HUMAN			YES	SLC44A3,synonymous_variant,p.=,ENST00000271227,NM_001258340.1,NM_001114106.2,NM_001258341.1;SLC44A3,synonymous_variant,p.=,ENST00000446120,NM_001258342.1;SLC44A3,synonymous_variant,p.=,ENST00000467909,NM_152369.4;SLC44A3,synonymous_variant,p.=,ENST00000422520,;SLC44A3,intron_variant,,ENST00000529450,;SLC44A3,intron_variant,,ENST00000527077,NM_001258343.1;SLC44A3,intron_variant,,ENST00000532427,;SLC44A3,intron_variant,,ENST00000530397,;SLC44A3,3_prime_UTR_variant,,ENST00000475883,;							LOW	411/1962		CTL3_HUMAN			Transcript			.	ENSP00000271227		CCDS44176.1			1	
MTUS1	0	LGGM	GRCh37	8	17581306	17581306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	5	.	.	ENST00000262102.6:c.2324G>T	p.Trp775Leu	p.W775L	ENST00000262102	NM_001001924.2	775	tGg/tTg	0	1	1	UPI000003FF3C	0	NA	ENST00000262102		ENSG00000129422	29789		75	0		HGNC	p.W775L		MTUS1		SNV			1				ENST00000262102	protein_coding	getma.org/?cm=var&var=hg19,8,17581306,C,A&fts=all		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7		W/L		A	neutral	2549/6160		getma.org/?cm=msa&ty=f&p=MTUS1_HUMAN&rb=1&re=809&var=W775L	tolerated(0.12)				YES	MTUS1,missense_variant,p.Trp775Leu,ENST00000262102,NM_001001924.2;MTUS1,intron_variant,,ENST00000381869,NM_001001925.2;MTUS1,intron_variant,,ENST00000519263,;MTUS1,upstream_gene_variant,,ENST00000381861,NM_001001931.2;MTUS1,upstream_gene_variant,,ENST00000544260,NM_001166393.1;MTUS1,downstream_gene_variant,,ENST00000381862,;MTUS1,non_coding_transcript_exon_variant,,ENST00000518138,;MTUS1,upstream_gene_variant,,ENST00000518975,;MTUS1,upstream_gene_variant,,ENST00000524044,;MTUS1,upstream_gene_variant,,ENST00000521882,;MTUS1,3_prime_UTR_variant,,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;MTUS1,non_coding_transcript_exon_variant,,ENST00000517721,;							MODERATE	2324/3813	W775L	MTUS1_HUMAN			Transcript		benign(0.006)	.	ENSP00000262102		CCDS43717.1			1	
ATP13A4	0	LGGM	GRCh37	3	193151643	193151643	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	5	.	.	ENST00000342695.4:c.2833G>T	p.Gly945Cys	p.G945C	ENST00000342695	NM_032279.2	945	Ggt/Tgt	0	1	1	UPI0000520D50	0	NA	ENST00000342695		ENSG00000127249	25422		63	-0.655		HGNC	p.G945C		ATP13A4		SNV							ENST00000342695	protein_coding	getma.org/?cm=var&var=hg19,3,193151643,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,TIGRFAM_domain:TIGR01657,Superfamily_domains:0049473		G/C		A	neutral	3156/4208		getma.org/?cm=msa&ty=f&p=AT134_HUMAN&rb=858&re=1057&var=G945C	tolerated(0.89)				YES	ATP13A4,missense_variant,p.Gly945Cys,ENST00000342695,NM_032279.2;ATP13A4,missense_variant,p.Gly926Cys,ENST00000392443,;ATP13A4,missense_variant,p.Leu575Phe,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,downstream_gene_variant,,ENST00000437904,;ATP13A4,downstream_gene_variant,,ENST00000474776,;							MODERATE	2833/3591	G945C	AT134_HUMAN			Transcript		benign(0.06)	.	ENSP00000339182		CCDS3304.2			1	
EDEM2	0	LGGM	GRCh37	20	33722630	33722630	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	5	.	.	ENST00000374492.3:c.613C>A	p.Leu205Met	p.L205M	ENST00000374492	NM_018217.2	205	Ctg/Atg	0	1	1	UPI00001285D9	0	getma.org/pdb.php?prot=EDEM2_HUMAN&from=42&to=482&var=L205M	ENST00000374492		ENSG00000088298	15877		25	3.515		HGNC	p.L168M		EDEM2		SNV							ENST00000374491	protein_coding	getma.org/?cm=var&var=hg19,20,33722630,G,T&fts=all		Gene3D:1.50.10.50,Pfam_domain:PF01532,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26,Superfamily_domains:SSF48225		L/M		T	high	719/1912		getma.org/?cm=msa&ty=f&p=EDEM2_HUMAN&rb=42&re=482&var=L205M	deleterious(0)	B4E1F4_HUMAN			YES	EDEM2,missense_variant,p.Leu164Met,ENST00000540582,;EDEM2,missense_variant,p.Leu205Met,ENST00000374492,NM_018217.2;EDEM2,missense_variant,p.Leu168Met,ENST00000374491,NM_001145025.1;EDEM2,5_prime_UTR_variant,,ENST00000541621,;EDEM2,intron_variant,,ENST00000542871,;							MODERATE	613/1737	L205M	EDEM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363616		CCDS13247.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102467305	102467305	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000360184.4:c.4089G>T	p.Leu1363Phe	p.L1363F	ENST00000360184	NM_001376.4	1363	ttG/ttT	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=1317&to=1725&var=L1363F	ENST00000360184		ENSG00000197102	2961		73	3.19		HGNC	p.L1363F		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102467305,G,T&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF08393		L/F		T	medium	4253/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=1317&re=1725&var=L1363F		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Leu1363Phe,ENST00000360184,NM_001376.4;							MODERATE	4089/13941	L1363F	DYHC1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000348965		CCDS9966.1			1	
LRGUK	0	LGGM	GRCh37	7	133906592	133906592	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000285928.2:c.1905G>T	p.Met635Ile	p.M635I	ENST00000285928	NM_144648.1	635	atG/atT	0	1	1	UPI0000072C76	0	NA	ENST00000285928		ENSG00000155530	21964		74	0.345		HGNC	p.M635I		LRGUK		SNV							ENST00000285928	protein_coding	getma.org/?cm=var&var=hg19,7,133906592,G,T&fts=all		hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35		M/I		T	neutral	1974/3163		getma.org/?cm=msa&ty=f&p=LRGUK_HUMAN&rb=617&re=695&var=M635I	tolerated(0.52)				YES	LRGUK,missense_variant,p.Met635Ile,ENST00000285928,NM_144648.1;							MODERATE	1905/2478	M635I	LRGUK_HUMAN			Transcript		benign(0)	.	ENSP00000285928		CCDS5830.1			1	
URB2	0	LGGM	GRCh37	1	229773336	229773336	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	5	.	.	ENST00000258243.2:c.2976C>A	p.Pro992=	p.P992=	ENST00000258243	NM_014777.2	992	ccC/ccA	0	1	1	UPI000013CFBD	0		ENST00000258243		ENSG00000135763	28967		56			HGNC	p.P992P		URB2		SNV							ENST00000258243	protein_coding			hmmpanther:PTHR15682		P		A		3112/5613				Q5VYD0_HUMAN			YES	URB2,synonymous_variant,p.=,ENST00000258243,NM_014777.2;							LOW	2976/4575		URB2_HUMAN			Transcript			.	ENSP00000258243		CCDS31052.1			1	
KLHL11	0	LGGM	GRCh37	17	40010128	40010128	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000319121.3:c.1991G>T	p.Arg664Leu	p.R664L	ENST00000319121	NM_018143.1	664	cGg/cTg	0	1	1	UPI00000719F8	0	NA	ENST00000319121		ENSG00000178502	19008		62	0.695		HGNC	p.R664L		KLHL11		SNV							ENST00000319121	protein_coding	getma.org/?cm=var&var=hg19,17,40010128,C,A&fts=all				R/L		A	neutral	2052/2383		getma.org/?cm=msa&ty=f&p=KLH11_HUMAN&rb=649&re=708&var=R664L	deleterious(0.04)				YES	KLHL11,missense_variant,p.Arg664Leu,ENST00000319121,NM_018143.1;RP11-156E6.1,upstream_gene_variant,,ENST00000560400,;							MODERATE	1991/2127	R664L	KLH11_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000314608		CCDS11411.1			1	
ARL14EP	0	LGGM	GRCh37	11	30358246	30358246	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	5	.	.	ENST00000282032.3:c.687C>A	p.Thr229=	p.T229=	ENST00000282032	NM_152316.1	229	acC/acA	0	1	1	UPI000000DC5B	0		ENST00000282032		ENSG00000152219	26798		87			HGNC	p.T229T		ARL14EP		SNV							ENST00000282032	protein_coding			hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF72,Pfam_domain:PF14949		T		A		902/2430				E9PRK7_HUMAN			YES	ARL14EP,synonymous_variant,p.=,ENST00000282032,NM_152316.1;ARL14EP,downstream_gene_variant,,ENST00000530909,;ARL14EP,downstream_gene_variant,,ENST00000533457,;							LOW	687/783		AL14E_HUMAN			Transcript			.	ENSP00000282032		CCDS7869.1			1	
IGHMBP2	0	LGGM	GRCh37	11	68703890	68703890	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	5	.	.	ENST00000255078.3:c.1942C>A	p.Pro648Thr	p.P648T	ENST00000255078	NM_002180.2	648	Cca/Aca	0	1	1	UPI000013CE82	0	NA	ENST00000255078		ENSG00000132740	5542		53	2.125		HGNC	p.P648T		IGHMBP2		SNV			1				ENST00000255078	protein_coding	getma.org/?cm=var&var=hg19,11,68703890,C,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF140,Gene3D:3.40.50.300		P/T		A	medium	2053/3961		getma.org/?cm=msa&ty=f&p=SMBP2_HUMAN&rb=616&re=729&var=P648T	tolerated(0.05)	F5H5K3_HUMAN			YES	IGHMBP2,missense_variant,p.Pro648Thr,ENST00000255078,NM_002180.2;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,non_coding_transcript_exon_variant,,ENST00000545475,;IGHMBP2,upstream_gene_variant,,ENST00000544521,;IGHMBP2,downstream_gene_variant,,ENST00000537458,;							MODERATE	1942/2982	P648T	SMBP2_HUMAN			Transcript		benign(0.094)	.	ENSP00000255078		CCDS8187.1			1	
MYL7	0	LGGM	GRCh37	7	44180902	44180902	+	start_lost,splice_region_variant	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	5	.	.	ENST00000223364.3:c.3G>T	p.Met1?	p.M1?	ENST00000223364	NM_021223.2	1	atG/atT	0	1	1	UPI000006FF43	0	NA	ENST00000223364		ENSG00000106631	21719		21	0		HGNC	p.M1I		MYL7		SNV							ENST00000223364	protein_coding	getma.org/?cm=var&var=hg19,7,44180902,C,A&fts=all		hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF39		M/I		A	NA	30/612		http://getma.org/?cm=msa&ty=f&p=MLRA_HUMAN&rb=1&re=175&var=M1I	deleterious(0.02)	C9JEG4_HUMAN			YES	MYL7,start_lost,p.Met1?,ENST00000223364,NM_021223.2;GCK,downstream_gene_variant,,ENST00000403799,NM_000162.3;GCK,downstream_gene_variant,,ENST00000395796,NM_033508.1;GCK,downstream_gene_variant,,ENST00000345378,NM_033507.1;GCK,downstream_gene_variant,,ENST00000437084,;GCK,downstream_gene_variant,,ENST00000336642,;MYL7,upstream_gene_variant,,ENST00000458240,;MYL7,upstream_gene_variant,,ENST00000457314,;MYL7,upstream_gene_variant,,ENST00000447951,;MYL7,upstream_gene_variant,,ENST00000446581,;MYL7,upstream_gene_variant,,ENST00000431007,;MYL7,upstream_gene_variant,,ENST00000434895,;GCK,downstream_gene_variant,,ENST00000473353,;MYL7,start_lost,p.Met1?,ENST00000457910,;GCK,downstream_gene_variant,,ENST00000459642,;MYL7,upstream_gene_variant,,ENST00000431289,;MYL7,upstream_gene_variant,,ENST00000476118,;							HIGH	3/528	M1I	MLRA_HUMAN			Transcript		benign(0.002)	.	ENSP00000223364		CCDS5478.1			1	
OR6K2	0	LGGM	GRCh37	1	158670381	158670381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000359610.2:c.62G>T	p.Trp21Leu	p.W21L	ENST00000359610	NM_001005279.1	21	tGg/tTg	0	1	1	UPI000004B208	0	NA	ENST00000359610		ENSG00000196171	15029		84	0.205		HGNC	p.W21L	COSM334196	OR6K2		SNV						1	ENST00000359610	protein_coding	getma.org/?cm=var&var=hg19,1,158670381,C,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Superfamily_domains:SSF81321		W/L		A	neutral	106/1118		getma.org/?cm=msa&ty=f&p=OR6K2_HUMAN&rb=1&re=137&var=W21L	tolerated(0.65)				YES	OR6K2,missense_variant,p.Trp21Leu,ENST00000359610,NM_001005279.1;					1		MODERATE	62/975	W21L	OR6K2_HUMAN			Transcript		benign(0.017)	.	ENSP00000352626		CCDS30902.1			1	
GADD45GIP1	0	LGGM	GRCh37	19	13065031	13065031	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	5	.	.	ENST00000316939.1:c.660C>A	p.Pro220=	p.P220=	ENST00000316939	NM_052850.3	220	ccC/ccA	0	1	1	UPI000006E725	0		ENST00000316939		ENSG00000179271	29996		22			HGNC	p.P220P		GADD45GIP1		SNV							ENST00000316939	protein_coding			hmmpanther:PTHR31761:SF1,hmmpanther:PTHR31761		P		T		684/743				Q7LAX7_HUMAN			YES	GADD45GIP1,synonymous_variant,p.=,ENST00000316939,NM_052850.3;RAD23A,downstream_gene_variant,,ENST00000586534,;RAD23A,downstream_gene_variant,,ENST00000316856,NM_005053.3,NM_001270362.1;RAD23A,downstream_gene_variant,,ENST00000592268,NM_001270363.1;RAD23A,downstream_gene_variant,,ENST00000541222,;RAD23A,downstream_gene_variant,,ENST00000590881,;AC092069.1,upstream_gene_variant,,ENST00000410560,;RAD23A,downstream_gene_variant,,ENST00000588826,;RAD23A,downstream_gene_variant,,ENST00000593114,;RAD23A,downstream_gene_variant,,ENST00000591499,;RAD23A,downstream_gene_variant,,ENST00000588329,;RAD23A,downstream_gene_variant,,ENST00000586375,;RAD23A,downstream_gene_variant,,ENST00000591467,;							LOW	660/669		G45IP_HUMAN			Transcript			.	ENSP00000323065		CCDS12290.1			1	
ZZZ3	0	LGGM	GRCh37	1	78097661	78097661	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	5	.	.	ENST00000370801.3:c.1379G>T	p.Arg460Ile	p.R460I	ENST00000370801	NM_015534.4	460	aGa/aTa	0	1	1	UPI0000074256	0	NA	ENST00000370801		ENSG00000036549	24523		79	1.1		HGNC	p.R460I		ZZZ3		SNV							ENST00000370801	protein_coding	getma.org/?cm=var&var=hg19,1,78097661,C,A&fts=all		hmmpanther:PTHR22705		R/I		A	low	1855/4328		getma.org/?cm=msa&ty=f&p=ZZZ3_HUMAN&rb=460&re=651&var=R460I	tolerated(0.13)	C9JUA4_HUMAN,C9J283_HUMAN			YES	ZZZ3,missense_variant,p.Arg460Ile,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,;							MODERATE	1379/2712	R460I	ZZZ3_HUMAN			Transcript		benign(0.063)	.	ENSP00000359837		CCDS677.1			1	
ADAMTS1	0	LGGM	GRCh37	21	28212021	28212021	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	5	.	.	ENST00000284984.3:c.1913G>T	p.Gly638Val	p.G638V	ENST00000284984	NM_006988.3	638	gGg/gTg	0	1	1	UPI000013DDC6	0	NA	ENST00000284984		ENSG00000154734	217		79	2.59		HGNC	p.G638V		ADAMTS1		SNV							ENST00000284984	protein_coding	getma.org/?cm=var&var=hg19,21,28212021,C,A&fts=all		hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723		G/V		A	medium	2368/5191		getma.org/?cm=msa&ty=f&p=ATS1_HUMAN&rb=614&re=724&var=G638V	tolerated(0.19)	E5RI60_HUMAN			YES	ADAMTS1,missense_variant,p.Gly638Val,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,non_coding_transcript_exon_variant,,ENST00000492656,;							MODERATE	1913/2904	G638V	ATS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000284984		CCDS33524.1			1	
ECE1	0	LGGM	GRCh37	1	21548289	21548289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000374893.6:c.2087C>A	p.Pro696His	p.P696H	ENST00000374893	NM_001397.2	696	cCc/cAc	0	1	1	UPI0000129B5E	0	getma.org/pdb.php?prot=ECE1_HUMAN&from=566&to=769&var=P696H	ENST00000374893		ENSG00000117298	3146		41	3.895		HGNC	p.P693H		ECE1		SNV			1				ENST00000264205	protein_coding	getma.org/?cm=var&var=hg19,1,21548289,G,T&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF01431,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF104,Superfamily_domains:SSF55486		P/H		T	high	2162/2484		getma.org/?cm=msa&ty=f&p=ECE1_HUMAN&rb=566&re=769&var=P696H	deleterious(0)	E9PN99_HUMAN,E9PJG1_HUMAN			YES	ECE1,missense_variant,p.Pro680His,ENST00000415912,NM_001113348.1;ECE1,missense_variant,p.Pro684His,ENST00000357071,NM_001113347.1;ECE1,missense_variant,p.Pro696His,ENST00000374893,NM_001397.2;ECE1,missense_variant,p.Pro693His,ENST00000264205,NM_001113349.1;ECE1,intron_variant,,ENST00000436918,;ECE1,non_coding_transcript_exon_variant,,ENST00000531334,;							MODERATE	2087/2313	P696H	ECE1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364028		CCDS215.1			1	
DCHS1	0	LGGM	GRCh37	11	6662310	6662310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	20	5	.	.	ENST00000299441.3:c.535G>T	p.Gly179Cys	p.G179C	ENST00000299441	NM_003737.2	179	Ggc/Tgc	0	1	1	UPI00001313B6	0	getma.org/pdb.php?prot=PCD16_HUMAN&from=149&to=246&var=G179C	ENST00000299441		ENSG00000166341	13681		25	3.12		HGNC	p.G179C		DCHS1		SNV			1				ENST00000299441	protein_coding	getma.org/?cm=var&var=hg19,11,6662310,C,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		G/C		A	medium	947/10763		getma.org/?cm=msa&ty=f&p=PCD16_HUMAN&rb=149&re=246&var=G179C	deleterious(0)				YES	DCHS1,missense_variant,p.Gly179Cys,ENST00000299441,NM_003737.2;							MODERATE	535/9897	G179C	PCD16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000299441		CCDS7771.1			1	
DMBX1	0	LGGM	GRCh37	1	46977755	46977755	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000360032.3:c.723G>T	p.Gly241=	p.G241=	ENST00000360032	NM_172225.1	241	ggG/ggT	0	1		UPI0000073295	0		ENST00000371956		ENSG00000197587	19026		41			HGNC	p.G241G		DMBX1		SNV							ENST00000360032	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF308		G		T		753/2882								DMBX1,synonymous_variant,p.=,ENST00000371956,NM_147192.2;DMBX1,synonymous_variant,p.=,ENST00000360032,NM_172225.1;							LOW	738/1149		DMBX1_HUMAN			Transcript			.	ENSP00000361024					1	
INTS7	0	LGGM	GRCh37	1	212151687	212151687	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	5	.	.	ENST00000366994.3:c.1397G>T	p.Gly466Val	p.G466V	ENST00000366994	NM_001199811.1	466	gGg/gTg	0	1	1	UPI000006FE2E	0	NA	ENST00000366994		ENSG00000143493	24484		68	1.39		HGNC	p.G466V		INTS7		SNV							ENST00000366993	protein_coding	getma.org/?cm=var&var=hg19,1,212151687,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		G/V		A	low	1502/4417		getma.org/?cm=msa&ty=f&p=INT7_HUMAN&rb=8&re=823&var=G466V	deleterious(0.04)				YES	INTS7,missense_variant,p.Gly466Val,ENST00000366994,NM_001199811.1,NM_015434.3,NM_001199812.1;INTS7,missense_variant,p.Gly466Val,ENST00000366993,;INTS7,missense_variant,p.Gly466Val,ENST00000366992,;INTS7,missense_variant,p.Gly417Val,ENST00000440600,NM_001199809.1;INTS7,non_coding_transcript_exon_variant,,ENST00000469606,;INTS7,upstream_gene_variant,,ENST00000461212,;INTS7,upstream_gene_variant,,ENST00000475798,;							MODERATE	1397/2889	G466V	INT7_HUMAN			Transcript		possibly_damaging(0.458)	.	ENSP00000355961		CCDS1501.1			1	
HAX1	0	LGGM	GRCh37	1	154245844	154245844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000328703.7:c.86G>T	p.Arg29Leu	p.R29L	ENST00000328703	NM_006118.3	29	cGa/cTa	0	1	1	UPI000012C0B6	0	NA	ENST00000328703		ENSG00000143575	16915		62	2.14		HGNC	p.R29L		HAX1		SNV			1				ENST00000328703	protein_coding	getma.org/?cm=var&var=hg19,1,154245844,G,T&fts=all		hmmpanther:PTHR14938,PIRSF_domain:PIRSF037634		R/L		T	medium	299/1227		getma.org/?cm=msa&ty=f&p=HAX1_HUMAN&rb=1&re=277&var=R29L	tolerated(0.05)	E9PIQ7_HUMAN			YES	HAX1,missense_variant,p.Arg29Leu,ENST00000328703,NM_006118.3;HAX1,missense_variant,p.Arg29Leu,ENST00000483970,;HAX1,missense_variant,p.Arg29Leu,ENST00000435087,;HAX1,intron_variant,,ENST00000457918,NM_001018837.1;HAX1,intron_variant,,ENST00000532105,;UBAP2L,downstream_gene_variant,,ENST00000428931,NM_014847.3;UBAP2L,downstream_gene_variant,,ENST00000361546,;UBAP2L,downstream_gene_variant,,ENST00000271877,NM_001287816.1;UBAP2L,downstream_gene_variant,,ENST00000433615,;UBAP2L,downstream_gene_variant,,ENST00000428595,;UBAP2L,downstream_gene_variant,,ENST00000484819,;UBAP2L,downstream_gene_variant,,ENST00000493867,;HAX1,missense_variant,p.Arg29Leu,ENST00000447768,;HAX1,non_coding_transcript_exon_variant,,ENST00000531435,;HAX1,non_coding_transcript_exon_variant,,ENST00000471326,;HAX1,non_coding_transcript_exon_variant,,ENST00000477780,;HAX1,upstream_gene_variant,,ENST00000492550,;HAX1,upstream_gene_variant,,ENST00000459914,;							MODERATE	86/840	R29L	HAX1_HUMAN			Transcript		possibly_damaging(0.835)	.	ENSP00000329002		CCDS1064.1			1	
KCNAB1	0	LGGM	GRCh37	3	156254454	156254454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	5	.	.	ENST00000490337.1:c.1178C>A	p.Pro393Gln	p.P393Q	ENST00000490337	NM_172160.2	393	cCa/cAa	0	1	1	UPI000012E169	0	getma.org/pdb.php?prot=KCAB1_HUMAN&from=103&to=408&var=P393Q	ENST00000490337		ENSG00000169282	6228		63	2.78		HGNC	p.P382Q		KCNAB1		SNV							ENST00000471742	protein_coding	getma.org/?cm=var&var=hg19,3,156254454,C,A&fts=all		hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF127,TIGRFAM_domain:TIGR01293,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430		P/Q		A	medium	1242/3122		getma.org/?cm=msa&ty=f&p=KCAB1_HUMAN&rb=103&re=408&var=P393Q	deleterious(0.01)	B7Z435_HUMAN			YES	KCNAB1,missense_variant,p.Pro375Gln,ENST00000302490,NM_172159.3;KCNAB1,missense_variant,p.Pro382Gln,ENST00000471742,NM_003471.3;KCNAB1,missense_variant,p.Pro393Gln,ENST00000490337,NM_172160.2;KCNAB1,missense_variant,p.Pro364Gln,ENST00000389636,;KCNAB1,missense_variant,p.Pro346Gln,ENST00000389634,;SSR3,downstream_gene_variant,,ENST00000265044,NM_007107.3;KCNAB1,non_coding_transcript_exon_variant,,ENST00000497291,;							MODERATE	1178/1260	P393Q	KCAB1_HUMAN			Transcript		benign(0.246)	.	ENSP00000419952		CCDS3174.1			1	
KIF18A	0	LGGM	GRCh37	11	28090914	28090914	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000263181.6:c.1482G>T	p.Leu494=	p.L494=	ENST00000263181	NM_031217.3	494	ctG/ctT	0	1	1	UPI0000037CCC	0		ENST00000263181		ENSG00000121621	29441		61			HGNC	p.L494L		KIF18A		SNV							ENST00000263181	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF399		L		A		1773/3568							YES	KIF18A,synonymous_variant,p.=,ENST00000263181,NM_031217.3;							LOW	1482/2697		KI18A_HUMAN			Transcript			.	ENSP00000263181		CCDS7867.1			1	
APOA1BP	0	LGGM	GRCh37	1	156562446	156562446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000368235.3:c.500G>T	p.Gly167Val	p.G167V	ENST00000368235	NM_144772.2	167	gGg/gTg	0	1	1	UPI000013E275	0	getma.org/pdb.php?prot=NNRE_HUMAN&from=65&to=275&var=G167V	ENST00000368235		ENSG00000163382	18453		67	-0.155		HGNC	p.G167V		APOA1BP		SNV							ENST00000368235	protein_coding	getma.org/?cm=var&var=hg19,1,156562446,G,T&fts=all		Gene3D:3.40.50.10260,HAMAP:MF_01966,Pfam_domain:PF03853,PROSITE_profiles:PS51385,hmmpanther:PTHR13232,hmmpanther:PTHR13232:SF11,Superfamily_domains:SSF64153,TIGRFAM_domain:TIGR00197		G/V		T	neutral	543/1125		getma.org/?cm=msa&ty=f&p=NNRE_HUMAN&rb=65&re=275&var=G167V	tolerated(0.13)				YES	APOA1BP,missense_variant,p.Gly167Val,ENST00000368235,NM_144772.2;APOA1BP,missense_variant,p.Gly167Val,ENST00000368233,;APOA1BP,missense_variant,p.Gly167Val,ENST00000368234,;GPATCH4,downstream_gene_variant,,ENST00000368232,NM_015590.3,NM_182679.2;GPATCH4,downstream_gene_variant,,ENST00000438976,;GPATCH4,downstream_gene_variant,,ENST00000415314,;AL365181.1,upstream_gene_variant,,ENST00000581084,;APOA1BP,non_coding_transcript_exon_variant,,ENST00000467374,;GPATCH4,downstream_gene_variant,,ENST00000497287,;GPATCH4,downstream_gene_variant,,ENST00000531129,;APOA1BP,upstream_gene_variant,,ENST00000488840,;GPATCH4,downstream_gene_variant,,ENST00000473910,;GPATCH4,downstream_gene_variant,,ENST00000506832,;GPATCH4,downstream_gene_variant,,ENST00000463513,;GPATCH4,downstream_gene_variant,,ENST00000494414,;GPATCH4,downstream_gene_variant,,ENST00000474904,;GPATCH4,downstream_gene_variant,,ENST00000498756,;GPATCH4,downstream_gene_variant,,ENST00000529520,;GPATCH4,downstream_gene_variant,,ENST00000498641,;							MODERATE	500/867	G167V	NNRE_HUMAN			Transcript		benign(0.056)	.	ENSP00000357218		CCDS1145.1			1	
FHL3	0	LGGM	GRCh37	1	38463364	38463364	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	25	5	.	.	ENST00000373016.3:c.680C>A	p.Pro227His	p.P227H	ENST00000373016	NM_001243878.1	227	cCc/cAc	0	1	1	UPI0000070486	0	getma.org/pdb.php?prot=FHL3_HUMAN&from=221&to=279&var=P227H	ENST00000373016		ENSG00000183386	3704		30	2.74		HGNC	p.P227H		FHL3		SNV							ENST00000373016	protein_coding	getma.org/?cm=var&var=hg19,1,38463364,G,T&fts=all		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		P/H		T	medium	849/1647		getma.org/?cm=msa&ty=f&p=FHL3_HUMAN&rb=221&re=279&var=P227H	deleterious(0)	Q96C98_HUMAN			YES	FHL3,missense_variant,p.Pro227His,ENST00000373016,NM_001243878.1,NM_004468.4;FHL3,non_coding_transcript_exon_variant,,ENST00000485803,;FHL3,non_coding_transcript_exon_variant,,ENST00000477194,;FHL3,non_coding_transcript_exon_variant,,ENST00000475084,;FHL3,downstream_gene_variant,,ENST00000483132,;							MODERATE	680/843	P227H	FHL3_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000362107		CCDS30678.1			1	
ZMYM4	0	LGGM	GRCh37	1	35836098	35836098	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	5	.	.	ENST00000314607.6:c.1051G>T	p.Gly351Trp	p.G351W	ENST00000314607	NM_005095.2	351	Ggg/Tgg	0	1	1	UPI0000203EE6	0	getma.org/pdb.php?prot=ZMYM4_HUMAN&from=333&to=373&var=G351W	ENST00000314607		ENSG00000146463	13055		53	2.25		HGNC	p.G351W		ZMYM4		SNV							ENST00000373297	protein_coding	getma.org/?cm=var&var=hg19,1,35836098,G,T&fts=all		Superfamily_domains:SSF57716,SMART_domains:SM00746,Pfam_domain:PF06467,hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697		G/W		T	medium	1131/6994		getma.org/?cm=msa&ty=f&p=ZMYM4_HUMAN&rb=333&re=373&var=G351W	deleterious(0)				YES	ZMYM4,missense_variant,p.Gly351Trp,ENST00000314607,NM_005095.2;ZMYM4,missense_variant,p.Gly351Trp,ENST00000373297,;ZMYM4,missense_variant,p.Gly100Trp,ENST00000457946,;ZMYM4-AS1,upstream_gene_variant,,ENST00000432683,;ZMYM4,non_coding_transcript_exon_variant,,ENST00000482131,;							MODERATE	1051/4647	G351W	ZMYM4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000322915		CCDS389.1			1	
CAPRIN2	0	LGGM	GRCh37	12	30866724	30866724	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000298892.5:c.2596C>A	p.Gln866Lys	p.Q866K	ENST00000298892	NM_023925.3	866	Caa/Aaa	0	1	1	UPI000007080A	0	NA	ENST00000298892		ENSG00000110888	21259		73	2.015		HGNC	p.Q661K		CAPRIN2		SNV							ENST00000433722	protein_coding	getma.org/?cm=var&var=hg19,12,30866724,G,T&fts=all		hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5,Pfam_domain:PF12287		Q/K		T	medium	3347/4334		getma.org/?cm=msa&ty=f&p=CAPR2_HUMAN&rb=628&re=934&var=Q916K	tolerated(0.06)	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN			YES	CAPRIN2,missense_variant,p.Gln916Lys,ENST00000251071,NM_032156.3,NM_001002259.1;CAPRIN2,missense_variant,p.Gln582Lys,ENST00000308433,;CAPRIN2,missense_variant,p.Gln866Lys,ENST00000298892,NM_023925.3;CAPRIN2,missense_variant,p.Gln860Lys,ENST00000395805,NM_001206856.1;CAPRIN2,missense_variant,p.Gln915Lys,ENST00000417045,;CAPRIN2,missense_variant,p.Gln661Lys,ENST00000433722,;CAPRIN2,downstream_gene_variant,,ENST00000537108,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;							MODERATE	2596/3234	Q916K	CAPR2_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000298892		CCDS8720.1			1	
GGNBP2	0	LGGM	GRCh37	17	34937929	34937929	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000304718.4:c.1176C>A	p.Pro392=	p.P392=	ENST00000304718	NM_024835.4	392	ccC/ccA	0	1	1	UPI00000728CB	0		ENST00000304718		ENSG00000005955	19357		65			HGNC	p.P392P		GGNBP2		SNV							ENST00000304718	protein_coding			hmmpanther:PTHR13601		P		A		1492/2847				K7ELA8_HUMAN,B4DWN7_HUMAN			YES	GGNBP2,synonymous_variant,p.=,ENST00000304718,NM_024835.4;GGNBP2,upstream_gene_variant,,ENST00000588222,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000486208,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000495023,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000483256,;GGNBP2,upstream_gene_variant,,ENST00000586045,;							LOW	1176/2094		GGNB2_HUMAN			Transcript			.	ENSP00000307617		CCDS11314.1			1	
ZNF487	0	LGGM	GRCh37	10	43971288	43971288	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	54	5	.	.	ENST00000437590.2:c.30C>A	p.Leu10=	p.L10=	ENST00000437590		10	ctC/ctA	0	1	1	UPI00019151EB	0		ENST00000437590		ENSG00000243660	23488		59			HGNC	p.L10L		ZNF487		SNV							ENST00000455398	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF116,Superfamily_domains:0044637		L		A		257/2111				B7Z7S5_HUMAN			YES	ZNF487,synonymous_variant,p.=,ENST00000437590,;ZNF487,synonymous_variant,p.=,ENST00000431662,;ZNF487,synonymous_variant,p.=,ENST00000315429,;ZNF487,synonymous_variant,p.=,ENST00000456416,;ZNF487,downstream_gene_variant,,ENST00000451167,;							LOW	30/627					Transcript			.	ENSP00000392335					1	
KCNN2	0	LGGM	GRCh37	5	113740236	113740236	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	5	.	.	ENST00000512097.3:c.684C>A	p.Pro228=	p.P228=	ENST00000512097		228	ccC/ccA	0	1		UPI000013D56A	0		ENST00000264773		ENSG00000080709	6291		97			HGNC	p.P228P		KCNN2		SNV							ENST00000512097	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10153,hmmpanther:PTHR10153:SF21,Pfam_domain:PF03530,Gene3D:1.10.287.70,Prints_domain:PR01451		P		A		1141/2515								KCNN2,synonymous_variant,p.=,ENST00000512097,;KCNN2,synonymous_variant,p.=,ENST00000264773,NM_001278204.1,NM_021614.3;KCNN2,intron_variant,,ENST00000507750,;							LOW	684/1740		KCNN2_HUMAN			Transcript			.	ENSP00000264773		CCDS4114.1			1	
NMUR2	0	LGGM	GRCh37	5	151784585	151784585	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	5	.	.	ENST00000255262.3:c.90G>T	p.Glu30Asp	p.E30D	ENST00000255262	NM_020167.4	30	gaG/gaT	0	1	1	UPI000013CE9D	0	NA	ENST00000255262		ENSG00000132911	16454		28	0.79		HGNC	p.E30D		NMUR2		SNV							ENST00000255262	protein_coding	getma.org/?cm=var&var=hg19,5,151784585,C,A&fts=all		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF14,Superfamily_domains:SSF81321		E/D		A	neutral	256/2073		getma.org/?cm=msa&ty=f&p=NMUR2_HUMAN&rb=1&re=61&var=E30D	tolerated(0.3)				YES	NMUR2,missense_variant,p.Glu30Asp,ENST00000255262,NM_020167.4;NMUR2,intron_variant,,ENST00000518933,;							MODERATE	90/1248	E30D	NMUR2_HUMAN			Transcript		benign(0.024)	.	ENSP00000255262		CCDS4321.1			1	
TIAL1	0	LGGM	GRCh37	10	121335188	121335188	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	55	5	.	.	ENST00000369093.2:c.1168C>A	p.Gln390Lys	p.Q390K	ENST00000369093	NM_001033925.1	390	Caa/Aaa	0	1		UPI0000136F4F	0	NA	ENST00000436547		ENSG00000151923	11804		60	1.245		HGNC	p.Q373K		TIAL1		SNV							ENST00000436547	protein_coding	getma.org/?cm=var&var=hg19,10,121335188,G,T&fts=all				Q/K		T	low	1162/1401		getma.org/?cm=msa&ty=f&p=TIAR_HUMAN&rb=272&re=375&var=Q373K	deleterious(0.04)	Q2TSD2_HUMAN,E7ETJ9_HUMAN,A6NKZ9_HUMAN				TIAL1,missense_variant,p.Gln250Lys,ENST00000369092,;TIAL1,missense_variant,p.Gln390Lys,ENST00000369093,NM_001033925.1;TIAL1,missense_variant,p.Gln373Lys,ENST00000436547,NM_003252.3;TIAL1,downstream_gene_variant,,ENST00000412524,;TIAL1,non_coding_transcript_exon_variant,,ENST00000463089,;TIAL1,downstream_gene_variant,,ENST00000495821,;TIAL1,downstream_gene_variant,,ENST00000470635,;TIAL1,3_prime_UTR_variant,,ENST00000497671,;TIAL1,non_coding_transcript_exon_variant,,ENST00000489822,;TIAL1,non_coding_transcript_exon_variant,,ENST00000470781,;TIAL1,downstream_gene_variant,,ENST00000369087,;							MODERATE	1117/1128	Q373K	TIAR_HUMAN			Transcript		benign(0.13)	.	ENSP00000394902		CCDS7613.1			1	
ANKIB1	0	LGGM	GRCh37	7	91936946	91936946	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000265742.3:c.462C>A	p.Ala154=	p.A154=	ENST00000265742	NM_019004.1	154	gcC/gcA	0	1	1	UPI00001C1E7C	0		ENST00000265742		ENSG00000001629	22215		70			HGNC	p.A154A		ANKIB1		SNV							ENST00000265742	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF95,SMART_domains:SM00248,Superfamily_domains:SSF48403		A		A		838/6081				Q4VBX8_HUMAN,C9JZ63_HUMAN			YES	ANKIB1,synonymous_variant,p.=,ENST00000265742,NM_019004.1;ANKIB1,downstream_gene_variant,,ENST00000442183,;ANKIB1,synonymous_variant,p.=,ENST00000439883,;							LOW	462/3270		AKIB1_HUMAN			Transcript			.	ENSP00000265742		CCDS47639.1			1	
TNFSF15	0	LGGM	GRCh37	9	117553131	117553131	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	5	.	.	ENST00000374045.4:c.357G>T	p.Trp119Cys	p.W119C	ENST00000374045	NM_005118.3	119	tgG/tgT	0	1	1	UPI000006F8DF	0	getma.org/pdb.php?prot=TNF15_HUMAN&from=117&to=251&var=W119C	ENST00000374045		ENSG00000181634	11931		54	3.33		HGNC	p.W119C		TNFSF15		SNV			1				ENST00000374045	protein_coding	getma.org/?cm=var&var=hg19,9,117553131,C,A&fts=all		Gene3D:2.60.120.40,Pfam_domain:PF00229,PROSITE_profiles:PS50049,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF24,SMART_domains:SM00207,Superfamily_domains:SSF49842		W/C		A	medium	471/6687		getma.org/?cm=msa&ty=f&p=TNF15_HUMAN&rb=117&re=251&var=W119C	deleterious(0)	D9N2U0_HUMAN			YES	TNFSF15,missense_variant,p.Trp119Cys,ENST00000374045,NM_005118.3,NM_001204344.1;TNFSF15,missense_variant,p.Trp42Cys,ENST00000374044,;AL390240.1,upstream_gene_variant,,ENST00000408807,;							MODERATE	357/756	W119C	TNF15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363157		CCDS6809.1			1	
HJURP	0	LGGM	GRCh37	2	234749791	234749791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	5	.	.	ENST00000411486.2:c.1635G>T	p.Gln545His	p.Q545H	ENST00000411486	NM_018410.3	545	caG/caT	0	1	1	UPI000013CB29	0	NA	ENST00000411486		ENSG00000123485	25444		35	1.04		HGNC	p.Q491H		HJURP		SNV							ENST00000432087	protein_coding	getma.org/?cm=var&var=hg19,2,234749791,C,A&fts=all		hmmpanther:PTHR15992		Q/H		A	low	1701/3187		getma.org/?cm=msa&ty=f&p=HJURP_HUMAN&rb=472&re=553&var=Q545H	deleterious(0.03)				YES	HJURP,missense_variant,p.Gln545His,ENST00000411486,NM_018410.3;HJURP,missense_variant,p.Gln491His,ENST00000432087,NM_001282962.1;HJURP,missense_variant,p.Gln460His,ENST00000441687,NM_001282963.1;HJURP,missense_variant,p.Gln460His,ENST00000414924,;HJURP,downstream_gene_variant,,ENST00000454020,;HJURP,downstream_gene_variant,,ENST00000434039,;HJURP,upstream_gene_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000453122,;HJURP,downstream_gene_variant,,ENST00000373395,;							MODERATE	1635/2247	Q545H	HJURP_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000414109		CCDS33406.1			1	
CDK13	0	LGGM	GRCh37	7	40027812	40027812	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	5	.	.	ENST00000181839.4:c.1826C>A	p.Pro609Gln	p.P609Q	ENST00000181839	NM_031267.3	609	cCg/cAg	0	1	1	UPI000013C5E3	0	NA	ENST00000181839		ENSG00000065883	1733		51	1.7		HGNC	p.P609Q		CDK13		SNV							ENST00000340829	protein_coding	getma.org/?cm=var&var=hg19,7,40027812,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	low	2431/7298		getma.org/?cm=msa&ty=f&p=CDK13_HUMAN&rb=451&re=609&var=P609Q	tolerated(0.07)				YES	CDK13,missense_variant,p.Pro609Gln,ENST00000181839,NM_031267.3,NM_003718.4;CDK13,missense_variant,p.Pro609Gln,ENST00000340829,;CDK13,non_coding_transcript_exon_variant,,ENST00000484589,;							MODERATE	1826/4539	P609Q	CDK13_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000181839		CCDS5461.1			1	
SLC4A5	0	LGGM	GRCh37	2	74452044	74452044	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000377634.4:c.3217C>A	p.Leu1073Ile	p.L1073I	ENST00000377634		1073	Ctc/Atc	0	1		UPI000007386D	0	NA	ENST00000346834		ENSG00000188687	18168		52	0.695		HGNC	p.L1073I		SLC4A5		SNV							ENST00000357822	protein_coding	getma.org/?cm=var&var=hg19,2,74452044,G,T&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20		L/I		T	neutral	3324/6104		getma.org/?cm=msa&ty=f&p=S4A5_HUMAN&rb=1024&re=1137&var=L1073I	tolerated(0.88)	Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,missense_variant,p.Leu1057Ile,ENST00000394019,NM_133478.2;SLC4A5,missense_variant,p.Leu976Ile,ENST00000346834,;SLC4A5,missense_variant,p.Leu955Ile,ENST00000359484,;SLC4A5,missense_variant,p.Leu1073Ile,ENST00000377634,;SLC4A5,missense_variant,p.Leu1073Ile,ENST00000357822,NM_021196.3;SLC4A5,missense_variant,p.Leu955Ile,ENST00000358683,;SLC4A5,missense_variant,p.Leu976Ile,ENST00000377632,;SLC4A5,3_prime_UTR_variant,,ENST00000423644,;SLC4A5,downstream_gene_variant,,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;SLC4A5,intron_variant,,ENST00000480696,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;							MODERATE	2926/3123	L1073I	S4A5_HUMAN			Transcript		benign(0.04)	.	ENSP00000251768					1	
PIWIL2	0	LGGM	GRCh37	8	22138703	22138703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000356766.6:c.269G>T	p.Arg90Leu	p.R90L	ENST00000356766	NM_018068.3	90	cGg/cTg	0	1	1	UPI000006E98E	0	NA	ENST00000356766		ENSG00000197181	17644		65	0.345		HGNC	p.R90L		PIWIL2		SNV							ENST00000454009	protein_coding	getma.org/?cm=var&var=hg19,8,22138703,G,T&fts=all		hmmpanther:PTHR22892:SF30,hmmpanther:PTHR22892		R/L		T	neutral	417/5128		getma.org/?cm=msa&ty=f&p=PIWL2_HUMAN&rb=1&re=200&var=R90L	tolerated_low_confidence(0.14)				YES	PIWIL2,missense_variant,p.Arg90Leu,ENST00000356766,NM_018068.3;PIWIL2,missense_variant,p.Arg90Leu,ENST00000521356,;PIWIL2,missense_variant,p.Arg90Leu,ENST00000454009,NM_001135721.1;							MODERATE	269/2922	R90L	PIWL2_HUMAN			Transcript		benign(0.004)	.	ENSP00000349208		CCDS6029.1			1	
TCP1	0	LGGM	GRCh37	6	160206477	160206477	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000321394.7:c.429G>T	p.Leu143=	p.L143=	ENST00000321394	NM_030752.2	143	ctG/ctT	0	1	1	UPI0000136AEA	0		ENST00000321394		ENSG00000120438	11655		84			HGNC	p.L143L		TCP1		SNV							ENST00000420894	protein_coding			hmmpanther:PTHR11353,TIGRFAM_domain:TIGR02340,Pfam_domain:PF00118		L		A		710/2499				F5H726_HUMAN,F5H676_HUMAN,F5H282_HUMAN,F5H136_HUMAN,E7EQR6_HUMAN			YES	TCP1,synonymous_variant,p.=,ENST00000321394,NM_030752.2;TCP1,synonymous_variant,p.=,ENST00000420894,;TCP1,synonymous_variant,p.=,ENST00000539948,;TCP1,synonymous_variant,p.=,ENST00000538128,;TCP1,5_prime_UTR_variant,,ENST00000392168,NM_001008897.1;TCP1,intron_variant,,ENST00000544255,;TCP1,intron_variant,,ENST00000539756,;TCP1,downstream_gene_variant,,ENST00000537390,;TCP1,downstream_gene_variant,,ENST00000536394,;SNORA29,downstream_gene_variant,,ENST00000384183,NR_002965.1;TCP1,intron_variant,,ENST00000543532,;TCP1,downstream_gene_variant,,ENST00000546023,;MRPL18,upstream_gene_variant,,ENST00000476826,;MRPL18,upstream_gene_variant,,ENST00000479638,;TCP1,3_prime_UTR_variant,,ENST00000538530,;TCP1,3_prime_UTR_variant,,ENST00000543517,;TCP1,non_coding_transcript_exon_variant,,ENST00000545764,;TCP1,non_coding_transcript_exon_variant,,ENST00000467544,;TCP1,upstream_gene_variant,,ENST00000536807,;TCP1,downstream_gene_variant,,ENST00000536607,;							LOW	429/1671		TCPA_HUMAN			Transcript			.	ENSP00000317334		CCDS5269.1			1	
IL1RAPL2	0	LGGM	GRCh37	X	104993056	104993056	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000372582.1:c.1152C>A	p.Leu384=	p.L384=	ENST00000372582	NM_017416.1	384	ctC/ctA	0	1	1	UPI0000073DF7	0		ENST00000372582		ENSG00000189108	5997		74			HGNC	p.L384L		IL1RAPL2		SNV							ENST00000372582	protein_coding			hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Prints_domain:PR01537		L		A		1908/2985							YES	IL1RAPL2,synonymous_variant,p.=,ENST00000372582,NM_017416.1;IL1RAPL2,synonymous_variant,p.=,ENST00000344799,;IL1RAPL2,non_coding_transcript_exon_variant,,ENST00000485671,;							LOW	1152/2061		IRPL2_HUMAN			Transcript			.	ENSP00000361663		CCDS14517.1			1	
ABCC8	0	LGGM	GRCh37	11	17474692	17474692	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	5	.	.	ENST00000389817.3:c.1150G>T	p.Gly384Ter	p.G384*	ENST00000389817		384	Gga/Tga	0	1	1	UPI0000DBEF32	0	NA	ENST00000389817		ENSG00000006071	59		76	0		HGNC	p.G384X		ABCC8		SNV			1				ENST00000302539	protein_coding	getma.org/?cm=var&var=hg19,11,17474692,C,A&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF187,Superfamily_domains:SSF90123		G/*		A	NA	1219/4921		NA					YES	ABCC8,stop_gained,p.Gly384Ter,ENST00000302539,NM_000352.3,NM_001287174.1;ABCC8,stop_gained,p.Gly384Ter,ENST00000389817,;ABCC8,stop_gained,p.Gly384Ter,ENST00000527905,;ABCC8,non_coding_transcript_exon_variant,,ENST00000532728,;							HIGH	1150/4746	G384*	ABCC8_HUMAN			Transcript			.	ENSP00000374467		CCDS31437.1			1	
APAF1	0	LGGM	GRCh37	12	99060055	99060055	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	5	.	.	ENST00000551964.1:c.1282C>A	p.Arg428=	p.R428=	ENST00000551964	NM_181861.1	428	Cgg/Agg	0	1	1	UPI0000036328	0		ENST00000551964		ENSG00000120868	576		92			HGNC	p.R428R		APAF1		SNV							ENST00000339433	protein_coding			hmmpanther:PTHR22845:SF1,hmmpanther:PTHR22845,PIRSF_domain:PIRSF037646		R		A		2018/5444							YES	APAF1,synonymous_variant,p.=,ENST00000357310,NM_181868.1;APAF1,synonymous_variant,p.=,ENST00000359972,NM_013229.2,NM_001160.2;APAF1,synonymous_variant,p.=,ENST00000339433,;APAF1,synonymous_variant,p.=,ENST00000550527,;APAF1,synonymous_variant,p.=,ENST00000551964,NM_181861.1;APAF1,synonymous_variant,p.=,ENST00000547045,;APAF1,synonymous_variant,p.=,ENST00000549007,;APAF1,intron_variant,,ENST00000333991,NM_181869.1;APAF1,intron_variant,,ENST00000552268,;APAF1,upstream_gene_variant,,ENST00000555047,;							LOW	1282/3747		APAF_HUMAN			Transcript			.	ENSP00000448165		CCDS9069.1			1	
CPM	0	LGGM	GRCh37	12	69326564	69326564	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000551568.1:c.54G>T	p.Leu18=	p.L18=	ENST00000551568	NM_001005502.2	18	ctG/ctT	0	1		UPI00001271D4	0		ENST00000338356		ENSG00000135678	2311		58			HGNC	p.L18L		CPM		SNV							ENST00000549781	protein_coding			Low_complexity_(Seg):seg,Superfamily_domains:SSF53187,hmmpanther:PTHR11532:SF53,hmmpanther:PTHR11532		L		A		101/6636				H0YHG6_HUMAN,F8W111_HUMAN,F8VVI6_HUMAN				CPM,synonymous_variant,p.=,ENST00000551568,NM_001005502.2,NM_198320.3;CPM,synonymous_variant,p.=,ENST00000338356,;CPM,synonymous_variant,p.=,ENST00000546373,NM_001874.4;CPM,synonymous_variant,p.=,ENST00000548954,;CPM,synonymous_variant,p.=,ENST00000548262,;CPM,synonymous_variant,p.=,ENST00000549781,;CPM,synonymous_variant,p.=,ENST00000551728,;CPM,synonymous_variant,p.=,ENST00000547134,;CPM,non_coding_transcript_exon_variant,,ENST00000547924,;							LOW	54/1332		CBPM_HUMAN			Transcript			.	ENSP00000339157		CCDS8987.1			1	
SMYD2	0	LGGM	GRCh37	1	214492275	214492275	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	5	.	.	ENST00000366957.5:c.483C>A	p.Ser161=	p.S161=	ENST00000366957	NM_020197.2	161	tcC/tcA	0	1	1	UPI0000205E5F	0		ENST00000366957		ENSG00000143499	20982		55			HGNC	p.S161S		SMYD2		SNV							ENST00000415093	protein_coding			Superfamily_domains:SSF82199,SMART_domains:SM00317,Pfam_domain:PF00856,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF15,PROSITE_profiles:PS50280		S		A		505/1671				I6L9H7_HUMAN			YES	SMYD2,synonymous_variant,p.=,ENST00000366957,NM_020197.2;SMYD2,synonymous_variant,p.=,ENST00000415093,;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;							LOW	483/1302		SMYD2_HUMAN			Transcript			.	ENSP00000355924		CCDS31022.1			1	
RBBP6	0	LGGM	GRCh37	16	24567733	24567733	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	5	.	.	ENST00000319715.4:c.639C>A	p.Thr213=	p.T213=	ENST00000319715	NM_006910.4	213	acC/acA	0	1	1	UPI00001A96B8	0		ENST00000319715		ENSG00000122257	9889		45			HGNC	p.T213T		RBBP6		SNV							ENST00000567686	protein_coding			hmmpanther:PTHR15439,hmmpanther:PTHR15439:SF1		T		A		1071/6229				I3L3Y2_HUMAN,H3BUN0_HUMAN,H3BSK8_HUMAN			YES	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.=,ENST00000564314,;RBBP6,synonymous_variant,p.=,ENST00000567686,;RBBP6,downstream_gene_variant,,ENST00000568015,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562430,;RBBP6,non_coding_transcript_exon_variant,,ENST00000562683,;RBBP6,downstream_gene_variant,,ENST00000564726,;							LOW	639/5379		RBBP6_HUMAN			Transcript			.	ENSP00000317872		CCDS10621.1			1	
ZNF33B	0	LGGM	GRCh37	10	43088723	43088723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000359467.3:c.1675G>T	p.Gly559Trp	p.G559W	ENST00000359467	NM_006955.1	559	Ggg/Tgg	0	1	1	UPI000007257B	0	getma.org/pdb.php?prot=ZN33B_HUMAN&from=539&to=564&var=G559W	ENST00000359467		ENSG00000196693	13097		74	3.6		HGNC	p.G559W		ZNF33B		SNV							ENST00000359467	protein_coding	getma.org/?cm=var&var=hg19,10,43088723,C,A&fts=all		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		G/W		A	high	1790/5958		getma.org/?cm=msa&ty=f&p=ZN33B_HUMAN&rb=519&re=584&var=G559W	deleterious(0)				YES	ZNF33B,missense_variant,p.Gly559Trp,ENST00000359467,NM_006955.1;ZNF33B,intron_variant,,ENST00000486187,;ZNF33B,intron_variant,,ENST00000465206,;ZNF33B,intron_variant,,ENST00000462075,;							MODERATE	1675/2337	G559W	ZN33B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352444		CCDS7198.1			1	
USP19	0	LGGM	GRCh37	3	49153295	49153295	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	11	5	.	.	ENST00000434032.2:c.1548C>A	p.Pro516=	p.P516=	ENST00000434032	NM_001199160.1	516	ccC/ccA	0	1		UPI00004BA927	0		ENST00000398888		ENSG00000172046	12617		16			HGNC	p.P516P		USP19		SNV							ENST00000434032	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404		P		T		1564/4559								USP19,synonymous_variant,p.=,ENST00000453664,NM_001199161.1,NM_001199162.1;USP19,synonymous_variant,p.=,ENST00000417901,;USP19,synonymous_variant,p.=,ENST00000434032,NM_001199160.1;USP19,synonymous_variant,p.=,ENST00000398892,;USP19,synonymous_variant,p.=,ENST00000398888,NM_006677.2;USP19,synonymous_variant,p.=,ENST00000398898,;USP19,synonymous_variant,p.=,ENST00000398896,;USP19,synonymous_variant,p.=,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000488993,;USP19,downstream_gene_variant,,ENST00000491859,;USP19,downstream_gene_variant,,ENST00000465902,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,downstream_gene_variant,,ENST00000480163,;							LOW	1245/3957		UBP19_HUMAN			Transcript			.	ENSP00000381863		CCDS43090.1			1	
PHLPP1	0	LGGM	GRCh37	18	60497428	60497428	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	5	.	.	ENST00000262719.5:c.1737C>A	p.Thr579=	p.T579=	ENST00000262719		579	acC/acA	0	1	1	UPI000051AE2E	0		ENST00000262719		ENSG00000081913	20610		93			HGNC	p.T67T		PHLPP1		SNV							ENST00000400316	protein_coding			Superfamily_domains:SSF50729,Gene3D:2.30.29.30,PROSITE_profiles:PS50003		T		A		1971/6390							YES	PHLPP1,synonymous_variant,p.=,ENST00000400316,NM_194449.3;PHLPP1,synonymous_variant,p.=,ENST00000262719,;AC015989.1,downstream_gene_variant,,ENST00000400312,;PHLPP1,non_coding_transcript_exon_variant,,ENST00000497351,;PHLPP1,upstream_gene_variant,,ENST00000487409,;PHLPP1,upstream_gene_variant,,ENST00000588452,;							LOW	1737/5154		PHLP1_HUMAN			Transcript			.	ENSP00000262719		CCDS45881.2			1	
MMP13	0	LGGM	GRCh37	11	102820866	102820866	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000260302.3:c.890G>T	p.Arg297Leu	p.R297L	ENST00000260302	NM_002427.3	297	cGa/cTa	0	1	1	UPI00000422BC	0	getma.org/pdb.php?prot=MMP13_HUMAN&from=290&to=332&var=R297L	ENST00000260302		ENSG00000137745	7159		90	3.645		HGNC	p.R297L		MMP13		SNV			1				ENST00000260302	protein_coding	getma.org/?cm=var&var=hg19,11,102820866,C,A&fts=all		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		R/L		A	high	919/2716		getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=290&re=332&var=R297L	deleterious(0)	Q6LBE5_HUMAN			YES	MMP13,missense_variant,p.Arg297Leu,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Arg297Leu,ENST00000340273,;							MODERATE	890/1416	R297L	MMP13_HUMAN			Transcript		benign(0.037)	.	ENSP00000260302		CCDS8324.1			1	
CRTAM	0	LGGM	GRCh37	11	122726433	122726433	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000227348.4:c.521G>T	p.Gly174Val	p.G174V	ENST00000227348	NM_019604.2	174	gGg/gTg	0	1	1	UPI000013C8B4	0	NA	ENST00000227348		ENSG00000109943	24313		74	2.295		HGNC	p.G174V		CRTAM		SNV							ENST00000227348	protein_coding	getma.org/?cm=var&var=hg19,11,122726433,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF48,Superfamily_domains:SSF48726		G/V		T	medium	568/2469		getma.org/?cm=msa&ty=f&p=CRTAM_HUMAN&rb=121&re=207&var=G174V	deleterious(0)				YES	CRTAM,missense_variant,p.Gly174Val,ENST00000227348,NM_019604.2;							MODERATE	521/1182	G174V	CRTAM_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000227348		CCDS8437.1			1	
GK2	0	LGGM	GRCh37	4	80328142	80328142	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000358842.3:c.1213C>A	p.Arg405=	p.R405=	ENST00000358842	NM_033214.2	405	Cga/Aga	0	1	1	UPI000011E629	0		ENST00000358842		ENSG00000196475	4291		90			HGNC	p.R405R		GK2		SNV							ENST00000358842	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF02782,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF46,Superfamily_domains:SSF53067,TIGRFAM_domain:TIGR01311		R		T		1231/1865							YES	GK2,synonymous_variant,p.=,ENST00000358842,NM_033214.2;							LOW	1213/1662		GLPK2_HUMAN			Transcript			.	ENSP00000351706		CCDS3585.1			1	
DNAJC19	0	LGGM	GRCh37	3	180703722	180703722	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	5	.	.	ENST00000382564.2:c.272C>A	p.Pro91His	p.P91H	ENST00000382564	NM_145261.3	91	cCt/cAt	0	1	1	UPI000006CD5D	0	getma.org/pdb.php?prot=TIM14_HUMAN&from=63&to=116&var=P91H	ENST00000382564		ENSG00000205981	30528		63	4.54		HGNC	p.P66H		DNAJC19		SNV			1				ENST00000491873	protein_coding	getma.org/?cm=var&var=hg19,3,180703722,G,T&fts=all		Superfamily_domains:SSF46565,SMART_domains:SM00271,Gene3D:1.10.287.110,Pfam_domain:PF00226,hmmpanther:PTHR12763,hmmpanther:PTHR12763:SF8,PROSITE_profiles:PS50076		P/H		T	high	443/1453		getma.org/?cm=msa&ty=f&p=TIM14_HUMAN&rb=63&re=116&var=P91H	deleterious(0)				YES	DNAJC19,missense_variant,p.Pro91His,ENST00000382564,NM_145261.3;DNAJC19,missense_variant,p.Pro66His,ENST00000491873,;DNAJC19,missense_variant,p.Pro66His,ENST00000479269,NM_001190233.1;DNAJC19,3_prime_UTR_variant,,ENST00000486355,;FXR1,downstream_gene_variant,,ENST00000357559,NM_001013438.2,NM_005087.3;SOX2-OT,upstream_gene_variant,,ENST00000487240,;SOX2-OT,upstream_gene_variant,,ENST00000461063,;DNAJC19,3_prime_UTR_variant,,ENST00000469657,;DNAJC19,non_coding_transcript_exon_variant,,ENST00000478723,;DNAJC19,downstream_gene_variant,,ENST00000485675,;DNAJC19,downstream_gene_variant,,ENST00000482363,;DNAJC19,downstream_gene_variant,,ENST00000472504,;							MODERATE	272/351	P91H	TIM14_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000372005		CCDS33895.1			1	
OR5I1	0	LGGM	GRCh37	11	55703840	55703840	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	5	.	.	ENST00000301532.3:c.37G>T	p.Glu13Ter	p.E13*	ENST00000301532	NM_006637.1	13	Gag/Tag	0	1	1	UPI00000405D5	0	NA	ENST00000301532		ENSG00000167825	8347		64	0		HGNC	p.E13X		OR5I1		SNV							ENST00000301532	protein_coding	getma.org/?cm=var&var=hg19,11,55703840,C,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Superfamily_domains:SSF81321		E/*		A	NA	37/945		NA					YES	OR5I1,stop_gained,p.Glu13Ter,ENST00000301532,NM_006637.1;							HIGH	37/945	E13*	OR5I1_HUMAN			Transcript			.	ENSP00000301532		CCDS7949.1			1	
SSFA2	0	LGGM	GRCh37	2	182780813	182780813	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	5	.	.	ENST00000431877.2:c.2446G>T	p.Glu816Ter	p.E816*	ENST00000431877	NM_001130445.1	816	Gag/Tag	0	1	1	UPI000019B17A	0	NA	ENST00000431877		ENSG00000138434	11319		33	0		HGNC	p.E816X		SSFA2		SNV							ENST00000320370	protein_coding	getma.org/?cm=var&var=hg19,2,182780813,G,T&fts=all		hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF11		E/*		T	NA	2625/5150		NA		B3KXT1_HUMAN			YES	SSFA2,stop_gained,p.Glu816Ter,ENST00000431877,NM_001130445.1;SSFA2,stop_gained,p.Glu816Ter,ENST00000409001,NM_001287504.1,NM_001287503.1;SSFA2,stop_gained,p.Glu816Ter,ENST00000320370,NM_006751.5;SSFA2,stop_gained,p.Glu663Ter,ENST00000428267,;SSFA2,stop_gained,p.Glu325Ter,ENST00000409136,;SSFA2,upstream_gene_variant,,ENST00000451836,;SSFA2,upstream_gene_variant,,ENST00000467172,;SSFA2,upstream_gene_variant,,ENST00000491866,;SSFA2,3_prime_UTR_variant,,ENST00000440623,;SSFA2,3_prime_UTR_variant,,ENST00000416081,;SSFA2,3_prime_UTR_variant,,ENST00000454579,;SSFA2,non_coding_transcript_exon_variant,,ENST00000491720,;							HIGH	2446/3780	E816*	SSFA2_HUMAN			Transcript			.	ENSP00000388731		CCDS46467.1			1	
MYOM2	0	LGGM	GRCh37	8	2044190	2044190	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	5	.	.	ENST00000262113.4:c.2229G>T	p.Leu743=	p.L743=	ENST00000262113	NM_003970.2	743	ctG/ctT	0	1	1	UPI000013D260	0		ENST00000262113		ENSG00000036448	7614		43			HGNC	p.L168L		MYOM2		SNV							ENST00000523438	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,Prints_domain:PR00014,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF48,SMART_domains:SM00060,Superfamily_domains:SSF49265		L		T		2370/5014				E7EWH9_HUMAN			YES	MYOM2,synonymous_variant,p.=,ENST00000262113,NM_003970.2;MYOM2,synonymous_variant,p.=,ENST00000523438,;MYOM2,upstream_gene_variant,,ENST00000518203,;MYOM2,downstream_gene_variant,,ENST00000518803,;MYOM2,upstream_gene_variant,,ENST00000519372,;							LOW	2229/4398		MYOM2_HUMAN			Transcript			.	ENSP00000262113		CCDS5957.1			1	
OR1F1	0	LGGM	GRCh37	16	3255095	3255095	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000304646.2:c.849C>A	p.Pro283=	p.P283=	ENST00000304646	NM_012360.1	283	ccC/ccA	0	1	1	UPI00000015B4	0		ENST00000304646		ENSG00000168124	8194		52			HGNC	p.P283P		OR1F1		SNV							ENST00000304646	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Prints_domain:PR00245,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF304,hmmpanther:PTHR26451,PROSITE_profiles:PS50262		P		A		849/942							YES	OR1F1,synonymous_variant,p.=,ENST00000304646,NM_012360.1;AJ003147.9,intron_variant,,ENST00000576468,;							LOW	849/939		OR1F1_HUMAN			Transcript			.	ENSP00000305424		CCDS10496.1			1	
SEC14L6	0	LGGM	GRCh37	22	30921452	30921452	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	5	.	.	ENST00000402034.2:c.966C>A	p.Thr322=	p.T322=	ENST00000402034	NM_001193336.2	322	acC/acA	0	1	1	UPI0001662AB0	0		ENST00000402034		ENSG00000214491	40047		57			HGNC	p.T322T		SEC14L6		SNV							ENST00000402034	protein_coding			PROSITE_profiles:PS50866,hmmpanther:PTHR23324:SF41,hmmpanther:PTHR23324,Superfamily_domains:0041713		T		T		966/3392							YES	SEC14L6,synonymous_variant,p.=,ENST00000402034,NM_001193336.2;SEC14L6,intron_variant,,ENST00000437871,;							LOW	966/1194		S14L6_HUMAN			Transcript			.	ENSP00000385695		CCDS54518.1			1	
TMEM131	0	LGGM	GRCh37	2	98430604	98430604	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000186436.5:c.1447G>T	p.Val483Phe	p.V483F	ENST00000186436	NM_015348.1	483	Gtt/Ttt	0	1	1	UPI00006C0498	0	NA	ENST00000186436		ENSG00000075568	30366		74	0.895		HGNC	p.V483F		TMEM131		SNV							ENST00000186436	protein_coding	getma.org/?cm=var&var=hg19,2,98430604,C,A&fts=all		hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1		V/F		A	low	1676/6640		getma.org/?cm=msa&ty=f&p=TM131_HUMAN&rb=446&re=501&var=V483F	deleterious(0)	C9J6W0_HUMAN			YES	TMEM131,missense_variant,p.Val483Phe,ENST00000186436,NM_015348.1;TMEM131,downstream_gene_variant,,ENST00000425805,;TMEM131,downstream_gene_variant,,ENST00000418629,;							MODERATE	1447/5652	V483F	TM131_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000186436		CCDS46368.1			1	
KCNA10	0	LGGM	GRCh37	1	111061209	111061209	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	5	.	.	ENST00000369771.2:c.201G>T	p.Pro67=	p.P67=	ENST00000369771	NM_005549.2	67	ccG/ccT	0	1	1	UPI0000071B2B	0		ENST00000369771		ENSG00000143105	6219		32			HGNC	p.P67P		KCNA10		SNV							ENST00000369771	protein_coding					P		A		589/1959				Q7KYZ7_HUMAN			YES	KCNA10,synonymous_variant,p.=,ENST00000369771,NM_005549.2;							LOW	201/1536		KCA10_HUMAN			Transcript			.	ENSP00000358786		CCDS826.1			1	
GALNT16	0	LGGM	GRCh37	14	69814598	69814598	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	5	.	.	ENST00000337827.4:c.1418G>T	p.Trp473Leu	p.W473L	ENST00000337827	NM_020692.2	473	tGg/tTg	0	1	1	UPI000004D296	0	getma.org/pdb.php?prot=GLTL1_HUMAN&from=432&to=552&var=W473L	ENST00000337827		ENSG00000100626	23233		46	3.095		HGNC	p.W473L		GALNT16		SNV							ENST00000448469	protein_coding	getma.org/?cm=var&var=hg19,14,69814598,G,T&fts=all		PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF3,Gene3D:2.80.10.50,Pfam_domain:PF00652,SMART_domains:SM00458,Superfamily_domains:SSF50370		W/L		T	medium	1745/3141		getma.org/?cm=msa&ty=f&p=GLTL1_HUMAN&rb=432&re=552&var=W473L	deleterious(0)	Q68VJ8_HUMAN			YES	GALNT16,missense_variant,p.Trp473Leu,ENST00000337827,NM_020692.2,NM_001168368.1;GALNT16,missense_variant,p.Trp473Leu,ENST00000448469,;GALNT16,missense_variant,p.Trp473Leu,ENST00000553669,;GALNT16,upstream_gene_variant,,ENST00000556829,;GALNT16,missense_variant,p.Trp473Leu,ENST00000553471,;							MODERATE	1418/1677	W473L	GLT16_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000336729		CCDS32107.1			1	
SLCO2B1	0	LGGM	GRCh37	11	74876950	74876950	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	5	.	.	ENST00000289575.5:c.404C>A	p.Pro135Gln	p.P135Q	ENST00000289575	NM_007256.4	135	cCg/cAg	0	1	1	UPI000013DF8A	0	NA	ENST00000289575		ENSG00000137491	10962		45	3.375		HGNC	p.P19Q		SLCO2B1		SNV							ENST00000341411	protein_coding	getma.org/?cm=var&var=hg19,11,74876950,C,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix		P/Q		A	medium	799/4494		getma.org/?cm=msa&ty=f&p=SO2B1_HUMAN&rb=48&re=648&var=P135Q	deleterious(0)	E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN			YES	SLCO2B1,missense_variant,p.Pro135Gln,ENST00000289575,NM_007256.4;SLCO2B1,missense_variant,p.Pro19Gln,ENST00000341411,;SLCO2B1,missense_variant,p.Pro19Gln,ENST00000454962,;SLCO2B1,missense_variant,p.Pro19Gln,ENST00000532236,;SLCO2B1,missense_variant,p.Pro113Gln,ENST00000428359,NM_001145211.2;SLCO2B1,missense_variant,p.Pro11Gln,ENST00000526839,;SLCO2B1,missense_variant,p.Pro113Gln,ENST00000534186,;SLCO2B1,missense_variant,p.Pro113Gln,ENST00000527180,;SLCO2B1,intron_variant,,ENST00000525650,NM_001145212.2;SLCO2B1,intron_variant,,ENST00000531756,;SLCO2B1,downstream_gene_variant,,ENST00000531713,;SLCO2B1,downstream_gene_variant,,ENST00000534004,;SLCO2B1,downstream_gene_variant,,ENST00000525845,;SLCO2B1,downstream_gene_variant,,ENST00000530556,;SLCO2B1,intron_variant,,ENST00000526660,;SLCO2B1,downstream_gene_variant,,ENST00000531457,;							MODERATE	404/2130	P135Q	SO2B1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000289575		CCDS8235.1			1	
ASB6	0	LGGM	GRCh37	9	132400677	132400677	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	5	.	.	ENST00000277458.4:c.658C>A	p.Leu220Met	p.L220M	ENST00000277458	NM_017873.3	220	Ctg/Atg	0	1	1	UPI000004A09F	0		ENST00000277458		ENSG00000148331	17181		24			HGNC	p.L220M		ASB6		SNV							ENST00000277458	protein_coding			hmmpanther:PTHR24132:SF0,hmmpanther:PTHR24132,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		L/M		T		824/2330			deleterious(0)				YES	ASB6,missense_variant,p.Leu220Met,ENST00000277458,NM_017873.3;ASB6,missense_variant,p.Leu141Met,ENST00000450050,;ASB6,synonymous_variant,p.=,ENST00000277459,NM_177999.2;NTMT1,downstream_gene_variant,,ENST00000372486,NM_001286796.1;NTMT1,downstream_gene_variant,,ENST00000372483,NM_014064.2,NM_001286797.1,NM_001286798.1;NTMT1,downstream_gene_variant,,ENST00000459968,;NTMT1,downstream_gene_variant,,ENST00000482347,NM_001286803.1;NTMT1,downstream_gene_variant,,ENST00000372480,;NTMT1,downstream_gene_variant,,ENST00000372481,NM_001286800.1;RP11-483H20.4,upstream_gene_variant,,ENST00000455074,;NTMT1,downstream_gene_variant,,ENST00000486391,;NTMT1,downstream_gene_variant,,ENST00000481189,;							MODERATE	658/1266		ASB6_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000277458		CCDS6924.1			1	
TNC	0	LGGM	GRCh37	9	117822109	117822109	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	5	.	.	ENST00000350763.4:c.4206G>T	p.Val1402=	p.V1402=	ENST00000350763	NM_002160.3	1402	gtG/gtT	0	1	1	UPI000013D5BD	0		ENST00000350763		ENSG00000041982	5318		45			HGNC	p.V1311V		TNC		SNV			1				ENST00000341037	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,SMART_domains:SM00060,Superfamily_domains:SSF49265		V		A		4618/7641				F5H5D6_HUMAN			YES	TNC,synonymous_variant,p.=,ENST00000350763,NM_002160.3;TNC,synonymous_variant,p.=,ENST00000341037,;TNC,synonymous_variant,p.=,ENST00000423613,;TNC,intron_variant,,ENST00000340094,;TNC,intron_variant,,ENST00000535648,;TNC,intron_variant,,ENST00000346706,;TNC,intron_variant,,ENST00000345230,;TNC,intron_variant,,ENST00000542877,;TNC,intron_variant,,ENST00000537320,;TNC,intron_variant,,ENST00000544972,;TNC,intron_variant,,ENST00000476680,;TNC,intron_variant,,ENST00000498724,;TNC,intron_variant,,ENST00000473855,;TNC,upstream_gene_variant,,ENST00000481475,;							LOW	4206/6606		TENA_HUMAN			Transcript			.	ENSP00000265131		CCDS6811.1			1	
SYNE1	0	LGGM	GRCh37	6	152652797	152652797	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000367255.5:c.13023C>A	p.Thr4341=	p.T4341=	ENST00000367255	NM_182961.3	4341	acC/acA	0	1	1	UPI000204AF58	0		ENST00000367255		ENSG00000131018	17089		61			HGNC	p.T4341T		SYNE1		SNV			1				ENST00000367255	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966		T		T		13625/27748							YES	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,;SYNE1,downstream_gene_variant,,ENST00000471834,;							LOW	13023/26394		SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
RRM1	0	LGGM	GRCh37	11	4144488	4144488	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	5	.	.	ENST00000300738.5:c.1194G>T	p.Thr398=	p.T398=	ENST00000300738	NM_001033.3	398	acG/acT	0	1	1	UPI0000000C7C	0		ENST00000300738		ENSG00000167325	10451		76			HGNC	p.T398T		RRM1		SNV							ENST00000300738	protein_coding			Superfamily_domains:SSF51998,Gene3D:3.20.70.20,Pfam_domain:PF02867,TIGRFAM_domain:TIGR02506,hmmpanther:PTHR11573		T		T		1398/3076				F5H861_HUMAN,E9PL69_HUMAN,E9PD78_HUMAN,B4DNN4_HUMAN			YES	RRM1,synonymous_variant,p.=,ENST00000300738,NM_001033.3;RRM1,synonymous_variant,p.=,ENST00000423050,;RRM1,synonymous_variant,p.=,ENST00000537197,;RRM1,synonymous_variant,p.=,ENST00000534285,;RRM1,non_coding_transcript_exon_variant,,ENST00000528470,;RRM1,non_coding_transcript_exon_variant,,ENST00000526304,;RRM1,3_prime_UTR_variant,,ENST00000532170,;RRM1,3_prime_UTR_variant,,ENST00000533349,;RRM1,3_prime_UTR_variant,,ENST00000533495,;RRM1,3_prime_UTR_variant,,ENST00000528442,;RRM1,non_coding_transcript_exon_variant,,ENST00000531591,;RRM1,non_coding_transcript_exon_variant,,ENST00000529109,;							LOW	1194/2379		RIR1_HUMAN			Transcript			.	ENSP00000300738		CCDS7750.1			1	
SNX4	0	LGGM	GRCh37	3	125216904	125216904	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	5	.	.	ENST00000251775.4:c.398G>T	p.Arg133Leu	p.R133L	ENST00000251775	NM_003794.3	133	cGg/cTg	0	1	1	UPI000003586D	0	getma.org/pdb.php?prot=SNX4_HUMAN&from=56&to=184&var=R133L	ENST00000251775		ENSG00000114520	11175		82	2.275		HGNC	p.R133L		SNX4		SNV							ENST00000251775	protein_coding	getma.org/?cm=var&var=hg19,3,125216904,C,A&fts=all		Superfamily_domains:SSF64268,SMART_domains:SM00312,Gene3D:3.30.1520.10,Pfam_domain:PF00787,hmmpanther:PTHR10555:SF19,hmmpanther:PTHR10555,PROSITE_profiles:PS50195		R/L		A	medium	423/2506		getma.org/?cm=msa&ty=f&p=SNX4_HUMAN&rb=56&re=184&var=R133L	deleterious(0)	Q9H398_HUMAN,B4DQV4_HUMAN			YES	SNX4,missense_variant,p.Arg133Leu,ENST00000251775,NM_003794.3;SNX4,splice_region_variant,,ENST00000536067,;SNX4,splice_region_variant,,ENST00000473417,;SNX4,missense_variant,p.Arg86Leu,ENST00000465505,;SNX4,splice_region_variant,,ENST00000471751,;							MODERATE	398/1353	R133L	SNX4_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000251775		CCDS3032.1			1	
TEKT2	0	LGGM	GRCh37	1	36552447	36552447	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	5	.	.	ENST00000207457.3:c.631G>T	p.Gly211Cys	p.G211C	ENST00000207457	NM_014466.2	211	Ggc/Tgc	0	1	1	UPI0000001C3D	0	NA	ENST00000207457		ENSG00000092850	11725		42	2.42		HGNC	p.G211C		TEKT2		SNV							ENST00000207457	protein_coding	getma.org/?cm=var&var=hg19,1,36552447,G,T&fts=all		Pfam_domain:PF03148,hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF7		G/C		T	medium	758/1509		getma.org/?cm=msa&ty=f&p=TEKT2_HUMAN&rb=17&re=399&var=G211C	deleterious(0)				YES	TEKT2,missense_variant,p.Gly211Cys,ENST00000207457,NM_014466.2;ADPRHL2,upstream_gene_variant,,ENST00000373178,NM_017825.2;TEKT2,upstream_gene_variant,,ENST00000473120,;RP4-665N4.4,upstream_gene_variant,,ENST00000446354,;TEKT2,splice_region_variant,,ENST00000469024,;							MODERATE	631/1293	G211C	TEKT2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000207457		CCDS401.1			1	
GMPR2	0	LGGM	GRCh37	14	24705332	24705332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	54	5	.	.	ENST00000420554.2:c.505C>A	p.Gln169Lys	p.Q169K	ENST00000420554	NM_016576.3	169	Cag/Aag	0	1		UPI000000CC1C	0	getma.org/pdb.php?prot=GMPR2_HUMAN&from=8&to=346&var=Q151K	ENST00000355299		ENSG00000100938	4377		59	-0.46		HGNC	p.Q169K		GMPR2		SNV							ENST00000420554	protein_coding	getma.org/?cm=var&var=hg19,14,24705332,C,A&fts=all		hmmpanther:PTHR11911:SF81,hmmpanther:PTHR11911,TIGRFAM_domain:TIGR01305,Pfam_domain:PF00478,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000235,Superfamily_domains:SSF51412		Q/K		A	neutral	912/1972		getma.org/?cm=msa&ty=f&p=GMPR2_HUMAN&rb=8&re=346&var=Q151K	tolerated(0.57)	Q86SZ5_HUMAN,H0YNS9_HUMAN,H0YL68_HUMAN				GMPR2,missense_variant,p.Gln169Lys,ENST00000557854,NM_001283022.1;GMPR2,missense_variant,p.Gln151Lys,ENST00000348719,;GMPR2,missense_variant,p.Gln151Lys,ENST00000355299,NM_001002000.1;GMPR2,missense_variant,p.Gln151Lys,ENST00000559836,NM_001002001.1;GMPR2,missense_variant,p.Gln169Lys,ENST00000420554,NM_016576.3;GMPR2,missense_variant,p.Gln151Lys,ENST00000399440,NM_001002002.1;GMPR2,missense_variant,p.Gln123Lys,ENST00000456667,NM_001283023.1;GMPR2,missense_variant,p.Gln194Lys,ENST00000561035,;GMPR2,missense_variant,p.Gln11Lys,ENST00000558483,;GMPR2,missense_variant,p.Gln147Lys,ENST00000559409,;GMPR2,5_prime_UTR_variant,,ENST00000558865,;GMPR2,intron_variant,,ENST00000559104,;GMPR2,intron_variant,,ENST00000559910,;GMPR2,intron_variant,,ENST00000560139,;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,;NEDD8,upstream_gene_variant,,ENST00000250495,NM_006156.2;GMPR2,upstream_gene_variant,,ENST00000558748,;NEDD8,upstream_gene_variant,,ENST00000524927,;TINF2,downstream_gene_variant,,ENST00000560019,;NEDD8-MDP1,upstream_gene_variant,,ENST00000534348,NM_001199823.1;GMPR2,upstream_gene_variant,,ENST00000559479,;GMPR2,upstream_gene_variant,,ENST00000558788,;GMPR2,upstream_gene_variant,,ENST00000559943,;GMPR2,downstream_gene_variant,,ENST00000558279,;GMPR2,upstream_gene_variant,,ENST00000558932,;NEDD8,upstream_gene_variant,,ENST00000533242,;NEDD8,upstream_gene_variant,,ENST00000527046,;GMPR2,upstream_gene_variant,,ENST00000560517,;NEDD8-MDP1,upstream_gene_variant,,ENST00000604306,;NEDD8,upstream_gene_variant,,ENST00000531430,;GMPR2,downstream_gene_variant,,ENST00000558701,;NEDD8,upstream_gene_variant,,ENST00000526430,;GMPR2,3_prime_UTR_variant,,ENST00000561038,NM_001283021.1;GMPR2,3_prime_UTR_variant,,ENST00000559287,;GMPR2,3_prime_UTR_variant,,ENST00000561130,;GMPR2,non_coding_transcript_exon_variant,,ENST00000559606,;GMPR2,downstream_gene_variant,,ENST00000558760,;NEDD8-MDP1,upstream_gene_variant,,ENST00000605847,;GMPR2,downstream_gene_variant,,ENST00000559102,;TINF2,downstream_gene_variant,,ENST00000559549,;NEDD8,upstream_gene_variant,,ENST00000396828,;TINF2,downstream_gene_variant,,ENST00000559147,;TINF2,downstream_gene_variant,,ENST00000557915,;NEDD8-MDP1,upstream_gene_variant,,ENST00000530579,;GMPR2,upstream_gene_variant,,ENST00000558007,;TINF2,downstream_gene_variant,,ENST00000558703,;GMPR2,downstream_gene_variant,,ENST00000559801,;							MODERATE	451/1047	Q151K	GMPR2_HUMAN			Transcript		benign(0)	.	ENSP00000347449		CCDS41935.1			1	
ZNF425	0	LGGM	GRCh37	7	148800957	148800957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000378061.2:c.2006C>A	p.Pro669Gln	p.P669Q	ENST00000378061	NM_001001661.2	669	cCg/cAg	0	1	1	UPI00001B64B9	0	getma.org/pdb.php?prot=ZN425_HUMAN&from=652&to=675&var=P669Q	ENST00000378061		ENSG00000204947	20690		71	1.185		HGNC	p.P669Q		ZNF425		SNV							ENST00000378061	protein_coding	getma.org/?cm=var&var=hg19,7,148800957,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF120,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		P/Q		T	low	2139/3220		getma.org/?cm=msa&ty=f&p=ZN425_HUMAN&rb=632&re=695&var=P669Q	deleterious(0)				YES	ZNF425,missense_variant,p.Pro669Gln,ENST00000378061,NM_001001661.2;ZNF425,downstream_gene_variant,,ENST00000483014,;ZNF425,downstream_gene_variant,,ENST00000495685,;							MODERATE	2006/2259	P669Q	ZN425_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000367300		CCDS34773.1			1	
SKIL	0	LGGM	GRCh37	3	170078305	170078305	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000458537.3:c.186G>T	p.Val62=	p.V62=	ENST00000458537	NM_001248008.1	62	gtG/gtT	0	1		UPI000020A79D	0		ENST00000259119		ENSG00000136603	10897		62			HGNC	p.V62V		SKIL		SNV							ENST00000458537	protein_coding			hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF3		V		T		857/3057				C9J8R9_HUMAN				SKIL,synonymous_variant,p.=,ENST00000458537,NM_001248008.1,NM_001145097.2,NM_005414.4;SKIL,synonymous_variant,p.=,ENST00000259119,;SKIL,synonymous_variant,p.=,ENST00000426052,NM_001145098.2;SKIL,synonymous_variant,p.=,ENST00000413427,;SKIL,synonymous_variant,p.=,ENST00000476188,;SKIL,downstream_gene_variant,,ENST00000490989,;SKIL,downstream_gene_variant,,ENST00000465590,;SKIL,downstream_gene_variant,,ENST00000477216,;SKIL,upstream_gene_variant,,ENST00000470571,;							LOW	186/2055		SKIL_HUMAN			Transcript			.	ENSP00000259119		CCDS33890.1			1	
LRP2	0	LGGM	GRCh37	2	170063706	170063706	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000263816.3:c.6524G>T	p.Arg2175Leu	p.R2175L	ENST00000263816	NM_004525.2	2175	cGg/cTg	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=2129&to=2201&var=R2175L	ENST00000263816		ENSG00000081479	6694		61	2.87		HGNC	p.R2175L		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170063706,C,A&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825		R/L		A	medium	6810/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=2129&re=2201&var=R2175L		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Arg2175Leu,ENST00000263816,NM_004525.2;							MODERATE	6524/13968	R2175L	LRP2_HUMAN			Transcript		benign(0.424)	.	ENSP00000263816		CCDS2232.1			1	
PPM1K	0	LGGM	GRCh37	4	89192212	89192212	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	55	5	.	.	ENST00000608933.1:c.542-2154G>T		*181*	ENST00000608933	NM_152542.4			0	1	1	UPI00000473F1	0		ENST00000608933		ENSG00000163644	25415		60			HGNC	p.R224L		PPM1K		SNV			1				ENST00000315194	protein_coding							A		-/6484							YES	PPM1K,missense_variant,p.Arg224Leu,ENST00000315194,;PPM1K,intron_variant,,ENST00000608933,NM_152542.4;PPM1K,intron_variant,,ENST00000295908,;PPM1K,intron_variant,,ENST00000508256,;PPM1K,intron_variant,,ENST00000510548,;PPM1K,downstream_gene_variant,,ENST00000514204,;RNU6-112P,downstream_gene_variant,,ENST00000363599,;PPM1K,non_coding_transcript_exon_variant,,ENST00000506423,;PPM1K,intron_variant,,ENST00000511506,;PPM1K,downstream_gene_variant,,ENST00000513546,;							MODIFIER	-/1119					Transcript			.	ENSP00000477341		CCDS3629.1			1	
ZFYVE16	0	LGGM	GRCh37	5	79747473	79747473	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	5	.	.	ENST00000338008.5:c.3552C>A	p.Pro1184=	p.P1184=	ENST00000338008	NM_014733.3	1184	ccC/ccA	0	1	1	UPI000013F4A0	0		ENST00000338008		ENSG00000039319	20756		96			HGNC	p.P1184P		ZFYVE16		SNV							ENST00000338008	protein_coding			Pfam_domain:PF11979,PIRSF_domain:PIRSF037289		P		A		3732/6773				B3KXA7_HUMAN			YES	ZFYVE16,synonymous_variant,p.=,ENST00000338008,NM_014733.3,NM_001284236.1;ZFYVE16,synonymous_variant,p.=,ENST00000510158,NM_001105251.1;ZFYVE16,synonymous_variant,p.=,ENST00000505560,;ZFYVE16,downstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000511829,;ZFYVE16,upstream_gene_variant,,ENST00000512907,;ZFYVE16,downstream_gene_variant,,ENST00000509558,;ZFYVE16,downstream_gene_variant,,ENST00000507548,;							LOW	3552/4620		ZFY16_HUMAN			Transcript			.	ENSP00000337159		CCDS4050.1			1	
CUL3	0	LGGM	GRCh37	2	225360628	225360628	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000264414.4:c.1763G>T	p.Arg588Leu	p.R588L	ENST00000264414	NM_003590.4	588	cGg/cTg	0	1	1	UPI0000001C83	0	getma.org/pdb.php?prot=CUL3_HUMAN&from=34&to=666&var=R588L	ENST00000264414		ENSG00000036257	2553		70	2.555		HGNC	p.R564L		CUL3		SNV			1				ENST00000409777	protein_coding	getma.org/?cm=var&var=hg19,2,225360628,C,A&fts=all		PROSITE_profiles:PS50069,hmmpanther:PTHR11932,Pfam_domain:PF00888,Superfamily_domains:SSF75632		R/L		A	medium	2102/6741		getma.org/?cm=msa&ty=f&p=CUL3_HUMAN&rb=34&re=666&var=R588L	deleterious(0.01)	Q53S54_HUMAN,Q53RD1_HUMAN			YES	CUL3,missense_variant,p.Arg588Leu,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Arg522Leu,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Arg564Leu,ENST00000409777,;CUL3,missense_variant,p.Arg564Leu,ENST00000409096,NM_001257198.1;CUL3,missense_variant,p.Arg42Leu,ENST00000451538,;CUL3,non_coding_transcript_exon_variant,,ENST00000487558,;CUL3,upstream_gene_variant,,ENST00000454323,;AC073052.1,downstream_gene_variant,,ENST00000440417,;							MODERATE	1763/2307	R588L	CUL3_HUMAN			Transcript		benign(0.184)	.	ENSP00000264414		CCDS2462.1			1	
WDR96	0	LGGM	GRCh37	10	105974179	105974179	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	35	5	.	.	ENST00000357060.3:c.422G>T	p.Trp141Leu	p.W141L	ENST00000357060	NM_025145.5	141	tGg/tTg	0	1	1	UPI0000D60FC7	0	NA	ENST00000357060		ENSG00000197748	26684		40	2.32		HGNC	p.W71L		WDR96		SNV							ENST00000369720	protein_coding	getma.org/?cm=var&var=hg19,10,105974179,C,A&fts=all		hmmpanther:PTHR14885,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		W/L		A	medium	538/5365		getma.org/?cm=msa&ty=f&p=WDR96_HUMAN&rb=1&re=200&var=W141L	deleterious(0)				YES	WDR96,missense_variant,p.Trp141Leu,ENST00000357060,NM_025145.5;WDR96,missense_variant,p.Trp141Leu,ENST00000428666,;WDR96,missense_variant,p.Trp71Leu,ENST00000278064,;WDR96,missense_variant,p.Trp71Leu,ENST00000369720,;WDR96,missense_variant,p.Trp71Leu,ENST00000369719,;MIR609,downstream_gene_variant,,ENST00000385298,;							MODERATE	422/4998	W141L	WDR96_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000349568		CCDS31281.1			1	
UBAP2L	0	LGGM	GRCh37	1	154227695	154227695	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000428931.1:c.1977G>T	p.Thr659=	p.T659=	ENST00000428931	NM_014847.3	659	acG/acT	0	1		UPI000013E257	0		ENST00000361546		ENSG00000143569	29877		71			HGNC	p.T670T		UBAP2L		SNV							ENST00000271877	protein_coding			hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF18		T		T		2019/3864				Q5VU81_HUMAN,Q5VU80_HUMAN,Q5VU78_HUMAN				UBAP2L,synonymous_variant,p.=,ENST00000428931,NM_014847.3;UBAP2L,synonymous_variant,p.=,ENST00000361546,;UBAP2L,synonymous_variant,p.=,ENST00000271877,NM_001287816.1;UBAP2L,synonymous_variant,p.=,ENST00000343815,NM_001127320.1,NM_001287815.1;UBAP2L,upstream_gene_variant,,ENST00000433615,;UBAP2L,upstream_gene_variant,,ENST00000428595,;SNORA58,upstream_gene_variant,,ENST00000364259,;AL590431.1,downstream_gene_variant,,ENST00000517008,;UBAP2L,non_coding_transcript_exon_variant,,ENST00000495676,;UBAP2L,upstream_gene_variant,,ENST00000489076,;UBAP2L,upstream_gene_variant,,ENST00000475373,;UBAP2L,downstream_gene_variant,,ENST00000466173,;UBAP2L,upstream_gene_variant,,ENST00000465855,;UBAP2L,upstream_gene_variant,,ENST00000484696,;							LOW	1977/3264		UBP2L_HUMAN			Transcript			.	ENSP00000355343		CCDS1063.1			1	
OR51V1	0	LGGM	GRCh37	11	5221456	5221456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000321255.1:c.475G>T	p.Gly159Cys	p.G159C	ENST00000321255	NM_001004760.2	159	Ggt/Tgt	0	1	1	UPI0000140ADA	0	getma.org/pdb.php?prot=O51V1_HUMAN&from=50&to=301&var=G159C	ENST00000321255		ENSG00000176742	19597		47	1.19		HGNC	p.G159C		OR51V1		SNV							ENST00000321255	protein_coding	getma.org/?cm=var&var=hg19,11,5221456,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF67,hmmpanther:PTHR26450,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		G/C		A	low	475/966		getma.org/?cm=msa&ty=f&p=O51V1_HUMAN&rb=50&re=301&var=G159C	tolerated(0.2)				YES	OR51V1,missense_variant,p.Gly159Cys,ENST00000321255,NM_001004760.2;AC104389.16,upstream_gene_variant,,ENST00000418080,;							MODERATE	475/966	G159C	O51V1_HUMAN			Transcript		benign(0.008)	.	ENSP00000321729		CCDS31375.1			1	
CHD4	0	LGGM	GRCh37	12	6697584	6697584	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	5	.	.	ENST00000357008.2:c.3345G>T	p.Pro1115=	p.P1115=	ENST00000357008	NM_001273.2	1115	ccG/ccT	0	1	1	UPI000013C8EF	0		ENST00000357008		ENSG00000111642	1919		66			HGNC	p.P1108P		CHD4		SNV							ENST00000544040	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00271,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,SMART_domains:SM00490,Superfamily_domains:SSF52540		P		A		3509/6496				F5H6N4_HUMAN			YES	CHD4,synonymous_variant,p.=,ENST00000309577,;CHD4,synonymous_variant,p.=,ENST00000544484,;CHD4,synonymous_variant,p.=,ENST00000544040,;CHD4,synonymous_variant,p.=,ENST00000357008,NM_001273.2;RP5-940J5.6,downstream_gene_variant,,ENST00000501075,;CHD4,intron_variant,,ENST00000536301,;CHD4,upstream_gene_variant,,ENST00000540960,;CHD4,downstream_gene_variant,,ENST00000537634,;CHD4,downstream_gene_variant,,ENST00000545083,;							LOW	3345/5739		CHD4_HUMAN			Transcript			.	ENSP00000349508		CCDS8552.1			1	
ALPK1	0	LGGM	GRCh37	4	113359802	113359802	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	5	.	.	ENST00000458497.1:c.3351G>T	p.Leu1117=	p.L1117=	ENST00000458497	NM_001102406.1	1117	ctG/ctT	0	1		UPI000045725F	0		ENST00000177648		ENSG00000073331	20917		77			HGNC	p.L1039L		ALPK1		SNV							ENST00000504176	protein_coding			PROSITE_profiles:PS51158,hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187,Pfam_domain:PF02816,SMART_domains:SM00811,Superfamily_domains:SSF56112		L		T		3551/4537								ALPK1,splice_region_variant,p.=,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,splice_region_variant,p.=,ENST00000177648,;ALPK1,splice_region_variant,p.=,ENST00000504176,NM_001253884.1;ALPK1,splice_region_variant,,ENST00000504745,;ALPK1,splice_region_variant,,ENST00000509722,;ALPK1,splice_region_variant,,ENST00000505127,;							LOW	3351/3735		ALPK1_HUMAN			Transcript			.	ENSP00000177648		CCDS3697.1			1	
AL359195.1	0	LGGM	GRCh37	10	82013073	82013073	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	5	.	.	ENST00000356374.4:c.591G>T	p.Leu197=	p.L197=	ENST00000356374		197	ctG/ctT	0	1	1	UPI00001C0F61	0		ENST00000356374		ENSG00000204038			82			Clone_based_ensembl_gene	p.L197L		AL359195.1		SNV							ENST00000356374	protein_coding					L		T		3608/3930				Q6ZRL6_HUMAN			YES	AL359195.1,synonymous_variant,p.=,ENST00000356374,;							LOW	591/843					Transcript			.	ENSP00000348738					1	
MEFV	0	LGGM	GRCh37	16	3297093	3297093	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	5	.	.	ENST00000219596.1:c.1510C>A	p.Gln504Lys	p.Q504K	ENST00000219596	NM_000243.2	504	Cag/Aag	0	1	1	UPI000004C0CA	0	NA	ENST00000219596		ENSG00000103313	6998		48	0.255		HGNC	p.Q293K		MEFV		SNV			1				ENST00000536980	protein_coding	getma.org/?cm=var&var=hg19,16,3297093,G,T&fts=all		hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103		Q/K		T	neutral	1550/3499		getma.org/?cm=msa&ty=f&p=MEFV_HUMAN&rb=413&re=599&var=Q504K	tolerated(0.33)				YES	MEFV,missense_variant,p.Gln504Lys,ENST00000219596,NM_000243.2;MEFV,missense_variant,p.Gln324Lys,ENST00000339854,;MEFV,missense_variant,p.Gln293Lys,ENST00000541159,NM_001198536.1;MEFV,missense_variant,p.Gln293Lys,ENST00000536379,;MEFV,missense_variant,p.Gln535Lys,ENST00000542898,;MEFV,missense_variant,p.Gln504Lys,ENST00000537682,;MEFV,missense_variant,p.Gln293Lys,ENST00000536980,;MEFV,3_prime_UTR_variant,,ENST00000538326,;MEFV,3_prime_UTR_variant,,ENST00000570511,;MEFV,3_prime_UTR_variant,,ENST00000539145,;MEFV,3_prime_UTR_variant,,ENST00000576315,;MEFV,3_prime_UTR_variant,,ENST00000574583,;MEFV,non_coding_transcript_exon_variant,,ENST00000539154,;MEFV,intron_variant,,ENST00000572244,;							MODERATE	1510/2346	Q504K	MEFV_HUMAN			Transcript		benign(0.001)	.	ENSP00000219596		CCDS10498.1			1	
ZNF532	0	LGGM	GRCh37	18	56651398	56651398	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	5	.	.	ENST00000336078.4:c.3606C>A	p.Ser1202=	p.S1202=	ENST00000336078	NM_018181.4	1202	tcC/tcA	0	1	1	UPI000013D30C	0		ENST00000336078		ENSG00000074657	30940		42			HGNC	p.S1202S		ZNF532		SNV							ENST00000336078	protein_coding			Superfamily_domains:SSF57667,hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374		S		A		4382/6696				K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN			YES	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,,ENST00000586997,;ZNF532,non_coding_transcript_exon_variant,,ENST00000588956,;ZNF532,non_coding_transcript_exon_variant,,ENST00000592249,;ZNF532,downstream_gene_variant,,ENST00000589131,;ZNF532,non_coding_transcript_exon_variant,,ENST00000590442,;ZNF532,downstream_gene_variant,,ENST00000585662,;ZNF532,downstream_gene_variant,,ENST00000586723,;							LOW	3606/3906		ZN532_HUMAN			Transcript			.	ENSP00000338217		CCDS11969.1			1	
ZNF599	0	LGGM	GRCh37	19	35250786	35250786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000329285.8:c.920G>T	p.Arg307Leu	p.R307L	ENST00000329285	NM_001007248.2	307	cGa/cTa	0	1	1	UPI0000071186	0	getma.org/pdb.php?prot=ZN599_HUMAN&from=297&to=322&var=R307L	ENST00000329285		ENSG00000153896	26408		65	1.6		HGNC	p.R307L	COSM187732	ZNF599		SNV						1	ENST00000329285	protein_coding	getma.org/?cm=var&var=hg19,19,35250786,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF20,hmmpanther:PTHR24381,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		R/L		A	low	1294/3099		getma.org/?cm=msa&ty=f&p=ZN599_HUMAN&rb=277&re=342&var=R307L	deleterious(0)				YES	ZNF599,missense_variant,p.Arg307Leu,ENST00000329285,NM_001007248.2;ZNF599,downstream_gene_variant,,ENST00000587354,;					1		MODERATE	920/1767	R307L	ZN599_HUMAN			Transcript		benign(0.015)	.	ENSP00000333802		CCDS32991.1			1	
SERPINA12	0	LGGM	GRCh37	14	94956104	94956104	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	5	.	.	ENST00000341228.2:c.906G>T	p.Arg302Ser	p.R302S	ENST00000341228	NM_173850.2	302	agG/agT	0	1	1	UPI000000D86C	0	getma.org/pdb.php?prot=SPA12_HUMAN&from=50&to=411&var=R302S	ENST00000341228		ENSG00000165953	18359		17	0.92		HGNC	p.R302S		SERPINA12		SNV							ENST00000556881	protein_coding	getma.org/?cm=var&var=hg19,14,94956104,C,A&fts=all		Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF149,SMART_domains:SM00093,Superfamily_domains:SSF56574		R/S		A	low	1702/2061		getma.org/?cm=msa&ty=f&p=SPA12_HUMAN&rb=50&re=411&var=R302S	tolerated(0.09)				YES	SERPINA12,missense_variant,p.Arg302Ser,ENST00000341228,NM_173850.2;SERPINA12,missense_variant,p.Arg302Ser,ENST00000556881,;							MODERATE	906/1245	R302S	SPA12_HUMAN			Transcript		benign(0.338)	.	ENSP00000342109		CCDS9926.1			1	
ZNF530	0	LGGM	GRCh37	19	58117317	58117317	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	23	5	.	.	ENST00000332854.6:c.424G>T	p.Gly142Ter	p.G142*	ENST00000332854	NM_020880.3	142	Gga/Tga	0	1	1	UPI0000199017	0	NA	ENST00000332854		ENSG00000183647	29297		28	0		HGNC	p.G142X		ZNF530		SNV							ENST00000332854	protein_coding	getma.org/?cm=var&var=hg19,19,58117317,G,T&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF38		G/*		T	NA	644/2962		NA		M0R1P0_HUMAN			YES	ZNF530,stop_gained,p.Gly142Ter,ENST00000332854,NM_020880.3;ZNF530,intron_variant,,ENST00000597864,;ZNF530,downstream_gene_variant,,ENST00000597700,;ZNF530,stop_gained,p.Gly142Ter,ENST00000600619,;ZNF530,non_coding_transcript_exon_variant,,ENST00000598297,;							HIGH	424/1800	G142*	ZN530_HUMAN			Transcript			.	ENSP00000332861		CCDS12955.1			1	
UBE2G1	0	LGGM	GRCh37	17	4186168	4186168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	54	5	.	.	ENST00000396981.2:c.475C>A	p.Arg159Ser	p.R159S	ENST00000396981	NM_003342.4	159	Cgc/Agc	0	1	1	UPI0000028843	0	getma.org/pdb.php?prot=UB2G1_HUMAN&from=9&to=161&var=R159S	ENST00000396981		ENSG00000132388	12482		59	1.795		HGNC	p.R159S		UBE2G1		SNV							ENST00000396981	protein_coding	getma.org/?cm=var&var=hg19,17,4186168,G,T&fts=all		hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF91,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495		R/S		T	low	641/3974		getma.org/?cm=msa&ty=f&p=UB2G1_HUMAN&rb=9&re=161&var=R159S	tolerated(0.06)	K7EPR7_HUMAN,I3L2Q4_HUMAN,I3L2H7_HUMAN,I3L0Q0_HUMAN			YES	UBE2G1,missense_variant,p.Arg159Ser,ENST00000396981,NM_003342.4;UBE2G1,missense_variant,p.Arg88Ser,ENST00000572484,;UBE2G1,downstream_gene_variant,,ENST00000571953,;UBE2G1,3_prime_UTR_variant,,ENST00000571980,;UBE2G1,3_prime_UTR_variant,,ENST00000574633,;							MODERATE	475/513	R159S	UB2G1_HUMAN			Transcript		benign(0.426)	.	ENSP00000380178		CCDS32532.1			1	
BNC1	0	LGGM	GRCh37	15	83932936	83932936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	5	.	.	ENST00000345382.2:c.1067G>T	p.Arg356Leu	p.R356L	ENST00000345382	NM_001717.3	356	cGg/cTg	0	1	1	UPI0000126796	0	NA	ENST00000345382		ENSG00000169594	1081		44	2.215		HGNC	p.R349L		BNC1		SNV							ENST00000569704	protein_coding	getma.org/?cm=var&var=hg19,15,83932936,C,A&fts=all		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1		R/L		A	medium	1153/4610		getma.org/?cm=msa&ty=f&p=BNC1_HUMAN&rb=201&re=356&var=R356L	deleterious(0)				YES	BNC1,missense_variant,p.Arg356Leu,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Arg349Leu,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;							MODERATE	1067/2985	R356L	BNC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000307041		CCDS10324.1			1	
ZSCAN4	0	LGGM	GRCh37	19	58190001	58190001	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	5	.	.	ENST00000318203.5:c.1030G>T	p.Glu344Ter	p.E344*	ENST00000318203	NM_152677.2	344	Gag/Tag	0	1	1	UPI000006E923	0	NA	ENST00000318203		ENSG00000180532	23709		78	0		HGNC	p.E344X		ZSCAN4		SNV							ENST00000318203	protein_coding	getma.org/?cm=var&var=hg19,19,58190001,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF45,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/*		T	NA	1727/2246		NA					YES	ZSCAN4,stop_gained,p.Glu344Ter,ENST00000318203,NM_152677.2;ZNF551,upstream_gene_variant,,ENST00000282296,;ZNF551,upstream_gene_variant,,ENST00000356715,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;							HIGH	1030/1302	E344*	ZSCA4_HUMAN			Transcript			.	ENSP00000321963		CCDS12958.1			1	
DNAJC11	0	LGGM	GRCh37	1	6696282	6696282	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	19	5	.	.	ENST00000377577.5:c.1549C>A	p.Pro517Thr	p.P517T	ENST00000377577	NM_018198.3	517	Ccg/Acg	0	1	1	UPI000020544B	0	NA	ENST00000377577		ENSG00000007923	25570		24	3.62		HGNC	p.P517T		DNAJC11		SNV							ENST00000377577	protein_coding	getma.org/?cm=var&var=hg19,1,6696282,G,T&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF159,Pfam_domain:PF11875		P/T		T	high	1673/3311		getma.org/?cm=msa&ty=f&p=DJC11_HUMAN&rb=410&re=549&var=P517T	deleterious(0.02)	F5H1N1_HUMAN,B3KTC6_HUMAN			YES	DNAJC11,missense_variant,p.Pro517Thr,ENST00000377577,NM_018198.3;DNAJC11,missense_variant,p.Pro465Thr,ENST00000294401,;DNAJC11,missense_variant,p.Pro479Thr,ENST00000542246,;DNAJC11,missense_variant,p.Pro427Thr,ENST00000377573,;DNAJC11,intron_variant,,ENST00000451196,;DNAJC11,intron_variant,,ENST00000349363,;THAP3,downstream_gene_variant,,ENST00000377627,NM_138350.3;THAP3,downstream_gene_variant,,ENST00000054650,NM_001195753.1;THAP3,downstream_gene_variant,,ENST00000307896,NM_001195752.1;THAP3,downstream_gene_variant,,ENST00000472925,;DNAJC11,non_coding_transcript_exon_variant,,ENST00000465508,;THAP3,downstream_gene_variant,,ENST00000484669,;DNAJC11,downstream_gene_variant,,ENST00000472414,;THAP3,downstream_gene_variant,,ENST00000487819,;							MODERATE	1549/1680	P517T	DJC11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000366800		CCDS87.1			1	
ATP8B1	0	LGGM	GRCh37	18	55355624	55355624	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000536015.1:c.1336G>T	p.Gly446Trp	p.G446W	ENST00000536015	NM_005603.4	446	Ggg/Tgg	0	1		UPI000013DD54	0	NA	ENST00000283684		ENSG00000081923	3706		71	4.495		HGNC	p.G446W		ATP8B1		SNV			1				ENST00000536015	protein_coding	getma.org/?cm=var&var=hg19,18,55355624,C,A&fts=all		hmmpanther:PTHR24092:SF48,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,Superfamily_domains:SSF56784,Superfamily_domains:0049473		G/W		A	high	1336/5818		getma.org/?cm=msa&ty=f&p=AT8B1_HUMAN&rb=419&re=450&var=G446W	deleterious(0)	K7ERI0_HUMAN,K7EQC4_HUMAN				ATP8B1,missense_variant,p.Gly446Trp,ENST00000536015,NM_005603.4;ATP8B1,missense_variant,p.Gly446Trp,ENST00000283684,;ATP8B1,missense_variant,p.Gly22Trp,ENST00000588255,;RP11-35G9.3,intron_variant,,ENST00000599199,;RP11-35G9.5,intron_variant,,ENST00000588925,;							MODERATE	1336/3756	G446W	AT8B1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000283684		CCDS11965.1			1	
ZNF419	0	LGGM	GRCh37	19	58004825	58004825	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000424930.2:c.903C>A	p.Ser301=	p.S301=	ENST00000424930	NM_024691.3	301	tcC/tcA	0	1		UPI000040C68A	0		ENST00000221735		ENSG00000105136	20648		70			HGNC	p.S288S		ZNF419		SNV							ENST00000426954	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF195,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		A		1086/2309								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,;							LOW	900/1533		ZN419_HUMAN			Transcript			.	ENSP00000221735		CCDS54326.1			1	
BCOR	0	LGGM	GRCh37	X	39932219	39932219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	5	.	.	ENST00000378444.4:c.2380G>T	p.Gly794Trp	p.G794W	ENST00000378444	NM_001123385.1	794	Ggg/Tgg	0	1	1	UPI00002318CF	0	NA	ENST00000378444		ENSG00000183337	20893		51	0.805		HGNC	p.G794W		BCOR		SNV			1				ENST00000406200	protein_coding	getma.org/?cm=var&var=hg19,X,39932219,C,A&fts=all		hmmpanther:PTHR24117,hmmpanther:PTHR24117:SF8		G/W		A	low	2609/6358		getma.org/?cm=msa&ty=f&p=BCOR_HUMAN&rb=756&re=1389&var=G794W	deleterious(0)	H9A532_HUMAN,H7BZ37_HUMAN,C9JHP3_HUMAN,B3KTC2_HUMAN			YES	BCOR,missense_variant,p.Gly794Trp,ENST00000342274,NM_001123383.1;BCOR,missense_variant,p.Gly794Trp,ENST00000378444,NM_001123385.1;BCOR,missense_variant,p.Gly794Trp,ENST00000378455,NM_001123384.1;BCOR,missense_variant,p.Gly794Trp,ENST00000397354,NM_017745.5;BCOR,missense_variant,p.Gly794Trp,ENST00000406200,;BCOR,upstream_gene_variant,,ENST00000378463,;BCOR,downstream_gene_variant,,ENST00000412952,;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,;							MODERATE	2380/5268	G794W	BCOR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367705		CCDS48093.1			1	
LCLAT1	0	LGGM	GRCh37	2	30755996	30755996	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	5	.	.	ENST00000309052.4:c.294C>A	p.Thr98=	p.T98=	ENST00000309052	NM_182551.3	98	acC/acA	0	1	1	UPI00000389F6	0		ENST00000309052		ENSG00000172954	26756		72			HGNC	p.T60T		LCLAT1		SNV							ENST00000379509	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10983:SF18,hmmpanther:PTHR10983,Superfamily_domains:0039877		T		A		503/5060				C9JUV9_HUMAN,C9JMW2_HUMAN,C9J6F4_HUMAN,C9J5S5_HUMAN			YES	LCLAT1,synonymous_variant,p.=,ENST00000309052,NM_182551.3;LCLAT1,synonymous_variant,p.=,ENST00000379509,NM_001002257.1;LCLAT1,synonymous_variant,p.=,ENST00000319406,;LCLAT1,synonymous_variant,p.=,ENST00000540623,;LCLAT1,synonymous_variant,p.=,ENST00000359433,;LCLAT1,synonymous_variant,p.=,ENST00000497423,;LCLAT1,synonymous_variant,p.=,ENST00000476038,;LCLAT1,synonymous_variant,p.=,ENST00000466477,;LCLAT1,synonymous_variant,p.=,ENST00000465200,;LCLAT1,synonymous_variant,p.=,ENST00000465538,;LCLAT1,synonymous_variant,p.=,ENST00000476535,;LCLAT1,synonymous_variant,p.=,ENST00000488144,;LCLAT1,non_coding_transcript_exon_variant,,ENST00000491680,;LCLAT1,3_prime_UTR_variant,,ENST00000478015,;							LOW	294/1245		LCLT1_HUMAN			Transcript			.	ENSP00000310551		CCDS1772.1			1	
KSR1	0	LGGM	GRCh37	17	25937223	25937223	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	5	.	.	ENST00000398988.3:c.2011G>T	p.Gly671Trp	p.G671W	ENST00000398988	NM_014238.1	671	Ggg/Tgg	0	1	1	UPI00005B2F0C	0	getma.org/pdb.php?prot=KSR1_HUMAN&from=611&to=875&var=G806W	ENST00000398988		ENSG00000141068	6465		35	4.88		HGNC	p.G671W		KSR1		SNV							ENST00000398988	protein_coding	getma.org/?cm=var&var=hg19,17,25937223,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/W		T	high	2456/7234		getma.org/?cm=msa&ty=f&p=KSR1_HUMAN&rb=611&re=875&var=G806W	deleterious(0)	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN			YES	KSR1,missense_variant,p.Gly671Trp,ENST00000398988,NM_014238.1;KSR1,missense_variant,p.Gly808Trp,ENST00000319524,;KSR1,missense_variant,p.Gly671Trp,ENST00000268763,;KSR1,missense_variant,p.Gly786Trp,ENST00000509603,;KSR1,missense_variant,p.Gly22Trp,ENST00000582410,;KSR1,missense_variant,p.Gly521Trp,ENST00000398982,;KSR1,missense_variant,p.Gly24Trp,ENST00000580430,;KSR1,upstream_gene_variant,,ENST00000583998,;KSR1,downstream_gene_variant,,ENST00000583525,;ITM2BP1,downstream_gene_variant,,ENST00000580276,;							MODERATE	2011/2289	G806W				Transcript		probably_damaging(0.999)	.	ENSP00000381958		CCDS58532.1			1	
CHD2	0	LGGM	GRCh37	15	93510627	93510627	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	54	5	.	.	ENST00000394196.4:c.2073G>T	p.Lys691Asn	p.K691N	ENST00000394196	NM_001271.3	691	aaG/aaT	0	1	1	UPI0000E8A85C	0	getma.org/pdb.php?prot=CHD2_HUMAN&from=487&to=768&var=K691N	ENST00000394196		ENSG00000173575	1917		59	1.17		HGNC	p.K691N		CHD2		SNV			1				ENST00000557381	protein_coding	getma.org/?cm=var&var=hg19,15,93510627,G,T&fts=all		Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Superfamily_domains:SSF52540		K/N		T	low	3141/9857		getma.org/?cm=msa&ty=f&p=CHD2_HUMAN&rb=487&re=768&var=K691N	deleterious(0)	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,missense_variant,p.Lys691Asn,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Lys691Asn,ENST00000557381,;CHD2,upstream_gene_variant,,ENST00000557116,;CHD2,upstream_gene_variant,,ENST00000557340,;CHD2,downstream_gene_variant,,ENST00000555582,;							MODERATE	2073/5487	K691N	CHD2_HUMAN			Transcript		benign(0.39)	.	ENSP00000377747		CCDS10374.2			1	
TMEM225	0	LGGM	GRCh37	11	123755984	123755984	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	5	.	.	ENST00000375026.2:c.149G>T	p.Trp50Leu	p.W50L	ENST00000375026	NM_001013743.1	50	tGg/tTg	0	1	1	UPI00003B5C5B	0	NA	ENST00000375026		ENSG00000204300	32390		46	0.975		HGNC	p.W50L		TMEM225		SNV							ENST00000375026	protein_coding	getma.org/?cm=var&var=hg19,11,123755984,C,A&fts=all		Pfam_domain:PF13903		W/L		A	low	366/1107		getma.org/?cm=msa&ty=f&p=TM225_HUMAN&rb=18&re=160&var=W50L	deleterious(0)				YES	TMEM225,missense_variant,p.Trp50Leu,ENST00000375026,NM_001013743.1;TMEM225,intron_variant,,ENST00000528595,;							MODERATE	149/678	W50L	TM225_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000364166		CCDS31697.1			1	
SCNN1A	0	LGGM	GRCh37	12	6464972	6464972	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000360168.3:c.1127G>T	p.Trp376Leu	p.W376L	ENST00000360168	NM_001159576.1	376	tGg/tTg	0	1		UPI0000000DC4	0	getma.org/pdb.php?prot=SCNNA_HUMAN&from=62&to=573&var=W317L	ENST00000228916		ENSG00000111319	10599		67	1.28		HGNC	p.W376L		SCNN1A		SNV			1				ENST00000360168	protein_coding	getma.org/?cm=var&var=hg19,12,6464972,C,A&fts=all		hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,Pfam_domain:PF00858,Gene3D:2qtsA02,TIGRFAM_domain:TIGR00859		W/L		A	low	1049/3135		getma.org/?cm=msa&ty=f&p=SCNNA_HUMAN&rb=62&re=573&var=W317L	deleterious(0.03)	F5GXE6_HUMAN				SCNN1A,missense_variant,p.Trp317Leu,ENST00000358945,;SCNN1A,missense_variant,p.Trp376Leu,ENST00000360168,NM_001159576.1;SCNN1A,missense_variant,p.Trp317Leu,ENST00000228916,NM_001038.5;SCNN1A,missense_variant,p.Trp17Leu,ENST00000540037,;SCNN1A,missense_variant,p.Trp340Leu,ENST00000543768,NM_001159575.1;SCNN1A,missense_variant,p.Trp317Leu,ENST00000396966,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000538979,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000536087,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542966,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000541249,;SCNN1A,upstream_gene_variant,,ENST00000366131,;SCNN1A,upstream_gene_variant,,ENST00000457871,;SCNN1A,upstream_gene_variant,,ENST00000539030,;SCNN1A,3_prime_UTR_variant,,ENST00000338748,;							MODERATE	950/2010	W317L	SCNNA_HUMAN			Transcript		benign(0.377)	.	ENSP00000228916		CCDS8543.1			1	
TRIM46	0	LGGM	GRCh37	1	155148379	155148379	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000334634.4:c.341C>A	p.Pro114His	p.P114H	ENST00000334634	NM_001282378.1	114	cCt/cAt	0	1	1	UPI000022B316	0	NA	ENST00000334634		ENSG00000163462	19019		65	1.995		HGNC	p.P114H		TRIM46		SNV							ENST00000368383	protein_coding	getma.org/?cm=var&var=hg19,1,155148379,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF27,SMART_domains:SM00184		P/H		A	medium	341/3061		getma.org/?cm=msa&ty=f&p=TRI46_HUMAN&rb=69&re=221&var=P114H	deleterious(0)	F5GYK0_HUMAN			YES	TRIM46,missense_variant,p.Pro114His,ENST00000392451,;TRIM46,missense_variant,p.Pro91His,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,missense_variant,p.Pro114His,ENST00000334634,NM_001282378.1,NM_001256601.1;TRIM46,missense_variant,p.Pro114His,ENST00000368383,;TRIM46,missense_variant,p.Pro114His,ENST00000368385,NM_001282379.1;TRIM46,missense_variant,p.Pro121His,ENST00000543729,;TRIM46,5_prime_UTR_variant,,ENST00000545012,;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,,ENST00000463527,;KRTCAP2,upstream_gene_variant,,ENST00000492892,;KRTCAP2,upstream_gene_variant,,ENST00000482246,;KRTCAP2,upstream_gene_variant,,ENST00000461136,;							MODERATE	341/2280	P114H	TRI46_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000334657		CCDS1097.1			1	
RNFT1	0	LGGM	GRCh37	17	58040611	58040611	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	5	.	.	ENST00000305783.8:c.91G>T	p.Glu31Ter	p.E31*	ENST00000305783	NM_016125.3	31	Gag/Tag	0	1	1	UPI0000D4C2BF	0	NA	ENST00000305783		ENSG00000189050	30206		48	0		HGNC	p.E31X		RNFT1		SNV							ENST00000482446	protein_coding	getma.org/?cm=var&var=hg19,17,58040611,C,A&fts=all		hmmpanther:PTHR15860,hmmpanther:PTHR15860:SF1		E/*		A	NA	147/2101		NA					YES	RNFT1,stop_gained,p.Glu31Ter,ENST00000305783,NM_016125.3;RNFT1,stop_gained,p.Glu31Ter,ENST00000589113,;RNFT1,5_prime_UTR_variant,,ENST00000442346,;RP11-178C3.1,intron_variant,,ENST00000591035,;TBC1D3P1-DHX40P1,non_coding_transcript_exon_variant,,ENST00000587125,;RP11-178C3.2,upstream_gene_variant,,ENST00000586209,;RP11-178C3.2,upstream_gene_variant,,ENST00000593015,;RNFT1,stop_gained,p.Glu31Ter,ENST00000482446,;RNFT1,stop_gained,p.Glu31Ter,ENST00000466544,;RNFT1,non_coding_transcript_exon_variant,,ENST00000586083,;RNFT1,non_coding_transcript_exon_variant,,ENST00000477207,;RNFT1,upstream_gene_variant,,ENST00000486103,;RNFT1,upstream_gene_variant,,ENST00000484257,;RNFT1,upstream_gene_variant,,ENST00000493737,;							HIGH	91/1308	E31*	RNFT1_HUMAN			Transcript			.	ENSP00000304670		CCDS11622.2			1	
POU2F1	0	LGGM	GRCh37	1	167384901	167384901	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000367866.2:c.2155G>T	p.Ala719Ser	p.A719S	ENST00000367866	NM_002697.3	719	Gcc/Tcc	0	1		UPI0000131D73	0	NA	ENST00000541643		ENSG00000143190	9212		71	0.895		HGNC	p.A708S		POU2F1		SNV							ENST00000367862	protein_coding	getma.org/?cm=var&var=hg19,1,167384901,G,T&fts=all		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF47,Low_complexity_(Seg):seg		A/S		T	low	2248/2664		getma.org/?cm=msa&ty=f&p=PO2F1_HUMAN&rb=637&re=743&var=A696S	tolerated(0.13)					POU2F1,missense_variant,p.Ala708Ser,ENST00000367862,NM_001198783.1;POU2F1,missense_variant,p.Ala719Ser,ENST00000367866,NM_002697.3,NM_001198786.1;POU2F1,missense_variant,p.Ala696Ser,ENST00000541643,;POU2F1,missense_variant,p.Ala656Ser,ENST00000429375,;POU2F1,intron_variant,,ENST00000420254,;POU2F1,intron_variant,,ENST00000443275,;POU2F1,non_coding_transcript_exon_variant,,ENST00000367865,;POU2F1,3_prime_UTR_variant,,ENST00000271411,;POU2F1,downstream_gene_variant,,ENST00000557874,;							MODERATE	2086/2232	A696S	PO2F1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000441285					1	
ZNF671	0	LGGM	GRCh37	19	58233764	58233764	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000317398.6:c.308G>T	p.Arg103Leu	p.R103L	ENST00000317398	NM_024833.2	103	cGa/cTa	0	1	1	UPI000013C612	0	NA	ENST00000317398		ENSG00000083814	26279		90	1.345		HGNC	p.R103L		ZNF671		SNV							ENST00000317398	protein_coding	getma.org/?cm=var&var=hg19,19,58233764,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24390:SF44,hmmpanther:PTHR24390,SMART_domains:SM00349,Superfamily_domains:0044637		R/L		A	low	404/2431		getma.org/?cm=msa&ty=f&p=ZN671_HUMAN&rb=49&re=120&var=R103L	tolerated(1)	C9J3V7_HUMAN			YES	ZNF671,missense_variant,p.Arg103Leu,ENST00000317398,NM_024833.2;ZNF671,missense_variant,p.Arg5Leu,ENST00000335820,;ZNF671,3_prime_UTR_variant,,ENST00000596939,;AC003006.7,intron_variant,,ENST00000594684,;ZNF671,non_coding_transcript_exon_variant,,ENST00000594803,;AC003006.7,intron_variant,,ENST00000599221,;ZNF671,downstream_gene_variant,,ENST00000599961,;ZNF671,3_prime_UTR_variant,,ENST00000600125,;ZNF671,3_prime_UTR_variant,,ENST00000601584,;							MODERATE	308/1605	R103L	ZN671_HUMAN			Transcript		benign(0.001)	.	ENSP00000321848		CCDS12961.1			1	
TMCC1	0	LGGM	GRCh37	3	129373934	129373934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	5	.	.	ENST00000393238.3:c.1524G>T	p.Leu508Phe	p.L508F	ENST00000393238	NM_001017395.3	508	ttG/ttT	0	1	1	UPI0000197B80	0	NA	ENST00000393238		ENSG00000172765	29116		66	3.005		HGNC	p.L329F		TMCC1		SNV							ENST00000329333	protein_coding	getma.org/?cm=var&var=hg19,3,129373934,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11		L/F		A	medium	1865/5992		getma.org/?cm=msa&ty=f&p=TMCC1_HUMAN&rb=229&re=641&var=L508F	deleterious(0)	Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN			YES	TMCC1,missense_variant,p.Leu508Phe,ENST00000393238,NM_001017395.3;TMCC1,missense_variant,p.Leu184Phe,ENST00000432054,;TMCC1,missense_variant,p.Leu394Phe,ENST00000426664,NM_001128224.2;TMCC1,missense_variant,p.Leu329Phe,ENST00000329333,;TMCC1,5_prime_UTR_variant,,ENST00000510323,;							MODERATE	1524/1962	L508F	TMCC1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000376930		CCDS33855.1			1	
DDC	0	LGGM	GRCh37	7	50571700	50571700	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000444124.2:c.772G>T	p.Gly258Cys	p.G258C	ENST00000444124	NM_001082971.1	258	Ggt/Tgt	0	1		UPI000013F150	0	getma.org/pdb.php?prot=DDC_HUMAN&from=35&to=414&var=G258C	ENST00000357936		ENSG00000132437	2719		70	2.39		HGNC	p.G258C		DDC		SNV			1				ENST00000380984	protein_coding	getma.org/?cm=var&var=hg19,7,50571700,C,A&fts=all		hmmpanther:PTHR11999:SF69,hmmpanther:PTHR11999,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383		G/C		A	medium	841/1938		getma.org/?cm=msa&ty=f&p=DDC_HUMAN&rb=35&re=414&var=G258C	deleterious(0)	C9JMP0_HUMAN				DDC,missense_variant,p.Gly258Cys,ENST00000444124,NM_001082971.1;DDC,missense_variant,p.Gly258Cys,ENST00000357936,NM_000790.3,NM_001242886.1,NM_001242887.1;DDC,missense_variant,p.Gly180Cys,ENST00000426377,NM_001242888.1;DDC,missense_variant,p.Gly165Cys,ENST00000431062,NM_001242889.1;DDC,missense_variant,p.Gly139Cys,ENST00000430300,;DDC,missense_variant,p.Gly258Cys,ENST00000380984,NM_001242890.1;DDC,missense_variant,p.Gly220Cys,ENST00000444733,;							MODERATE	772/1443	G258C	DDC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000350616		CCDS5511.1			1	
ERC1	0	LGGM	GRCh37	12	1399104	1399104	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000397203.2:c.2706G>T	p.Leu902=	p.L902=	ENST00000397203		902	ctG/ctT	0	1		UPI000007479C	0		ENST00000360905		ENSG00000082805	17072		58			HGNC	p.L902L		ERC1		SNV			1				ENST00000589028	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1		L		T		2887/5789				K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,synonymous_variant,p.=,ENST00000397203,;ERC1,synonymous_variant,p.=,ENST00000543086,NM_178039.2;ERC1,synonymous_variant,p.=,ENST00000589028,NM_178040.2;ERC1,synonymous_variant,p.=,ENST00000355446,;ERC1,synonymous_variant,p.=,ENST00000360905,;ERC1,synonymous_variant,p.=,ENST00000546231,;ERC1,non_coding_transcript_exon_variant,,ENST00000543263,;ERC1,synonymous_variant,p.=,ENST00000440394,;ERC1,synonymous_variant,p.=,ENST00000347735,;ERC1,synonymous_variant,p.=,ENST00000542302,;ERC1,synonymous_variant,p.=,ENST00000545948,;ERC1,synonymous_variant,p.=,ENST00000588412,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;							LOW	2706/3351		RB6I2_HUMAN			Transcript			.	ENSP00000354158		CCDS8508.1			1	
SUGP2	0	LGGM	GRCh37	19	19135676	19135676	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	83	5	.	.	ENST00000601879.1:c.1481G>T	p.Arg494Leu	p.R494L	ENST00000601879		494	cGg/cTg	0	1		UPI000019825D	0	NA	ENST00000337018		ENSG00000064607	18641		88	0.975		HGNC	p.R494L		SUGP2		SNV							ENST00000600239	protein_coding	getma.org/?cm=var&var=hg19,19,19135676,C,A&fts=all		hmmpanther:PTHR23340:SF2,hmmpanther:PTHR23340		R/L		A	low	1615/3640		getma.org/?cm=msa&ty=f&p=SUGP2_HUMAN&rb=1&re=585&var=R494L	deleterious(0)	M0R065_HUMAN				SUGP2,missense_variant,p.Arg494Leu,ENST00000601879,;SUGP2,missense_variant,p.Arg508Leu,ENST00000600377,;SUGP2,missense_variant,p.Arg494Leu,ENST00000452918,NM_001017392.3;SUGP2,missense_variant,p.Arg494Leu,ENST00000337018,NM_014884.3;SUGP2,missense_variant,p.Arg263Leu,ENST00000456085,;SUGP2,downstream_gene_variant,,ENST00000594445,;SUGP2,downstream_gene_variant,,ENST00000598202,;SUGP2,missense_variant,p.Arg494Leu,ENST00000600239,;SUGP2,missense_variant,p.Arg494Leu,ENST00000594773,;SUGP2,missense_variant,p.Arg494Leu,ENST00000330854,;SUGP2,3_prime_UTR_variant,,ENST00000598240,;							MODERATE	1481/3249	R494L	SUGP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337926		CCDS12392.1			1	
PRPF40B	0	LGGM	GRCh37	12	50031310	50031310	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	34	5	.	.	ENST00000548825.2:c.1618G>T	p.Glu540Ter	p.E540*	ENST00000548825	NM_001031698.2	540	Gag/Tag	0	1		UPI000034E5B3	0	NA	ENST00000380281		ENSG00000110844	25031		39	0		HGNC	p.E518X		PRPF40B		SNV							ENST00000380281	protein_coding	getma.org/?cm=var&var=hg19,12,50031310,G,T&fts=all		Superfamily_domains:SSF81698,SMART_domains:SM00441,Gene3D:1uzcA00,Pfam_domain:PF01846,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF1,PROSITE_profiles:PS51676		E/*		T	NA	1616/3154		NA						PRPF40B,stop_gained,p.Glu512Ter,ENST00000261897,;PRPF40B,stop_gained,p.Glu540Ter,ENST00000548825,NM_001031698.2;PRPF40B,stop_gained,p.Glu518Ter,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,upstream_gene_variant,,ENST00000546626,;PRPF40B,downstream_gene_variant,,ENST00000551320,;PRPF40B,upstream_gene_variant,,ENST00000548399,;							HIGH	1552/2616	E518*	PR40B_HUMAN			Transcript			.	ENSP00000369634					1	
ANGPTL3	0	LGGM	GRCh37	1	63067991	63067991	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	5	.	.	ENST00000371129.3:c.871G>T	p.Gly291Ter	p.G291*	ENST00000371129	NM_014495.3	291	Gga/Tga	0	1	1	UPI000003722C	0	NA	ENST00000371129		ENSG00000132855	491		83	0		HGNC	p.G291X		ANGPTL3		SNV			1				ENST00000371129	protein_coding	getma.org/?cm=var&var=hg19,1,63067991,G,T&fts=all		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF18,SMART_domains:SM00186,Superfamily_domains:SSF56496		G/*		T	NA	951/2805		NA		B1ALJ0_HUMAN			YES	ANGPTL3,stop_gained,p.Gly291Ter,ENST00000371129,NM_014495.3;DOCK7,intron_variant,,ENST00000251157,NM_001272001.1,NM_001271999.1;DOCK7,intron_variant,,ENST00000340370,NM_033407.3,NM_001272000.1;DOCK7,intron_variant,,ENST00000404627,NM_001272002.1;ANGPTL3,non_coding_transcript_exon_variant,,ENST00000493994,;ANGPTL3,non_coding_transcript_exon_variant,,ENST00000482591,;							HIGH	871/1383	G291*	ANGL3_HUMAN			Transcript			.	ENSP00000360170		CCDS622.1			1	
CAGE1	0	LGGM	GRCh37	6	7370267	7370267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	5	.	.	ENST00000502583.1:c.1778C>A	p.Pro593Gln	p.P593Q	ENST00000502583	NM_001170692.1	593	cCg/cAg	0	1		UPI0000F3BE14	0	NA	ENST00000512086		ENSG00000164304	21622		91	1.04		HGNC	p.P593Q		CAGE1		SNV							ENST00000502583	protein_coding	getma.org/?cm=var&var=hg19,6,7370267,G,T&fts=all				P/Q		T	low	1981/2537		getma.org/?cm=msa&ty=f&p=CAGE1_HUMAN&rb=1&re=776&var=P593Q	tolerated(0.15)					CAGE1,missense_variant,p.Pro593Gln,ENST00000502583,NM_001170692.1;CAGE1,missense_variant,p.Pro593Gln,ENST00000379918,;CAGE1,missense_variant,p.Pro457Gln,ENST00000296742,NM_205864.2;CAGE1,missense_variant,p.Pro593Gln,ENST00000338150,NM_001170693.1;CAGE1,missense_variant,p.Pro593Gln,ENST00000512086,;CAGE1,downstream_gene_variant,,ENST00000512691,;CAGE1,downstream_gene_variant,,ENST00000509324,;CAGE1,missense_variant,p.Pro593Gln,ENST00000458291,;CAGE1,3_prime_UTR_variant,,ENST00000442019,;							MODERATE	1778/2334	P593Q	CAGE1_HUMAN			Transcript		possibly_damaging(0.652)	.	ENSP00000427583					1	
LAMTOR2	0	LGGM	GRCh37	1	156025060	156025060	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	5	.	.	ENST00000368305.4:c.75G>T	p.Leu25=	p.L25=	ENST00000368305	NM_014017.3	25	ctG/ctT	0	1	1	UPI000012E762	0		ENST00000368305		ENSG00000116586	29796		65			HGNC	p.L25L		LAMTOR2		SNV			1				ENST00000368302	protein_coding			hmmpanther:PTHR13323,Gene3D:3.30.450.30,Pfam_domain:PF03259,SMART_domains:SM00960,Superfamily_domains:SSF103196		L		T		213/655							YES	LAMTOR2,synonymous_variant,p.=,ENST00000368305,NM_014017.3;LAMTOR2,synonymous_variant,p.=,ENST00000368302,;LAMTOR2,synonymous_variant,p.=,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,;							LOW	75/378		LTOR2_HUMAN			Transcript			.	ENSP00000357288		CCDS1128.1			1	
TLR5	0	LGGM	GRCh37	1	223285504	223285504	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000540964.1:c.870G>T	p.Val290=	p.V290=	ENST00000540964		290	gtG/gtT	0	1		UPI0000205D14	0		ENST00000366881		ENSG00000187554	11851		70			HGNC	p.V290V		TLR5		SNV			1				ENST00000366881	protein_coding			Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF221		V		A		1511/3368				B1AZ06_HUMAN				TLR5,synonymous_variant,p.=,ENST00000540964,;TLR5,synonymous_variant,p.=,ENST00000366881,NM_003268.5;TLR5,synonymous_variant,p.=,ENST00000342210,;TLR5,downstream_gene_variant,,ENST00000407096,;							LOW	870/2577		TLR5_HUMAN			Transcript			.	ENSP00000355846		CCDS31033.1			1	
EMC1	0	LGGM	GRCh37	1	19557769	19557769	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000477853.1:c.1930G>T	p.Asp644Tyr	p.D644Y	ENST00000477853	NM_001271427.1	644	Gat/Tat	0	1	1	UPI0000070A23	0	NA	ENST00000477853		ENSG00000127463	28957		67	2.56		HGNC	p.D643Y		EMC1		SNV							ENST00000375199	protein_coding	getma.org/?cm=var&var=hg19,1,19557769,C,A&fts=all		hmmpanther:PTHR21573,hmmpanther:PTHR21573:SF0		D/Y		A	medium	1973/6664		getma.org/?cm=msa&ty=f&p=K0090_HUMAN&rb=456&re=655&var=D644Y	deleterious(0)				YES	EMC1,missense_variant,p.Asp644Tyr,ENST00000477853,NM_001271427.1,NM_001271428.1,NM_015047.2;EMC1,missense_variant,p.Asp643Tyr,ENST00000375199,;EMC1,missense_variant,p.Asp622Tyr,ENST00000375208,NM_001271429.1;RP1-43E13.2,intron_variant,,ENST00000437898,;EMC1,upstream_gene_variant,,ENST00000494770,;							MODERATE	1930/2982	D644Y	EMC1_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000420608		CCDS190.1			1	
CASP5	0	LGGM	GRCh37	11	104871127	104871127	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000393141.2:c.852G>T	p.Glu284Asp	p.E284D	ENST00000393141	NM_004347.3	284	gaG/gaT	0	1		UPI0001824643	0	getma.org/pdb.php?prot=CASP5_HUMAN&from=193&to=430&var=E271D	ENST00000260315		ENSG00000137757	1506		67	0.325		HGNC	p.E284D		CASP5		SNV							ENST00000526056	protein_coding	getma.org/?cm=var&var=hg19,11,104871127,C,A&fts=all		PROSITE_profiles:PS50208,hmmpanther:PTHR10454:SF137,hmmpanther:PTHR10454,Pfam_domain:PF00656,Gene3D:3.40.50.1460,SMART_domains:SM00115,PIRSF_domain:PIRSF038001,Superfamily_domains:SSF52129		E/D		A	neutral	813/1414		getma.org/?cm=msa&ty=f&p=CASP5_HUMAN&rb=193&re=430&var=E271D	tolerated(0.93)	C9JF14_HUMAN				CASP5,missense_variant,p.Glu284Asp,ENST00000393141,NM_004347.3,NM_001136112.1;CASP5,missense_variant,p.Glu271Asp,ENST00000260315,;CASP5,missense_variant,p.Glu284Asp,ENST00000526056,;CASP5,missense_variant,p.Glu213Asp,ENST00000444749,NM_001136109.1;CASP5,missense_variant,p.Glu129Asp,ENST00000418434,NM_001136110.1;CASP5,missense_variant,p.Glu129Asp,ENST00000531367,;CASP5,3_prime_UTR_variant,,ENST00000393139,;CASP5,downstream_gene_variant,,ENST00000456094,;CASP5,3_prime_UTR_variant,,ENST00000456200,;CASP5,upstream_gene_variant,,ENST00000438448,;							MODERATE	813/1305	E271D	CASP5_HUMAN			Transcript		benign(0.001)	.	ENSP00000260315		CCDS8328.2			1	
PI4KB	0	LGGM	GRCh37	1	151276027	151276027	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	5	.	.	ENST00000368875.2:c.1546G>T	p.Gly516Trp	p.G516W	ENST00000368875	NM_002651.2	516	Ggg/Tgg	0	1		UPI0000040634	0	NA	ENST00000368873		ENSG00000143393	8984		95	1.935		HGNC	p.G172W		PI4KB		SNV							ENST00000430800	protein_coding	getma.org/?cm=var&var=hg19,1,151276027,C,A&fts=all		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF22		G/W		A	medium	1679/3340		getma.org/?cm=msa&ty=f&p=PI4KB_HUMAN&rb=310&re=509&var=G504W	deleterious(0)	F8W860_HUMAN,E9PL47_HUMAN,E9PIH4_HUMAN				PI4KB,missense_variant,p.Gly516Trp,ENST00000368875,NM_002651.2;PI4KB,missense_variant,p.Gly489Trp,ENST00000368874,NM_001198774.1;PI4KB,missense_variant,p.Gly516Trp,ENST00000271657,;PI4KB,missense_variant,p.Gly504Trp,ENST00000368873,;PI4KB,missense_variant,p.Gly489Trp,ENST00000368872,NM_001198773.1;PI4KB,missense_variant,p.Gly172Trp,ENST00000529142,NM_001198775.1;PI4KB,missense_variant,p.Gly172Trp,ENST00000430800,;PI4KB,upstream_gene_variant,,ENST00000455060,;PI4KB,upstream_gene_variant,,ENST00000489889,;PI4KB,downstream_gene_variant,,ENST00000489223,;RN7SL444P,upstream_gene_variant,,ENST00000578948,;PI4KB,non_coding_transcript_exon_variant,,ENST00000460323,;PI4KB,upstream_gene_variant,,ENST00000469239,;							MODERATE	1510/2451	G504W	PI4KB_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000357867					1	
SORD	0	LGGM	GRCh37	15	45357557	45357557	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	39	5	.	.	ENST00000267814.9:c.514C>A	p.Leu172Met	p.L172M	ENST00000267814	NM_003104.5	172	Ctg/Atg	0	1	1	UPI000013D771	0	getma.org/pdb.php?prot=DHSO_HUMAN&from=144&to=182&var=L172M	ENST00000267814		ENSG00000140263	11184		44	1.86		HGNC	p.L151M		SORD		SNV							ENST00000558580	protein_coding	getma.org/?cm=var&var=hg19,15,45357557,C,A&fts=all		hmmpanther:PTHR11695:SF451,hmmpanther:PTHR11695,Gene3D:3.90.180.10,SMART_domains:SM00829,Superfamily_domains:SSF50129,Superfamily_domains:SSF51735		L/M		A	low	694/4909		getma.org/?cm=msa&ty=f&p=DHSO_HUMAN&rb=144&re=182&var=L172M	tolerated(0.1)				YES	SORD,missense_variant,p.Leu172Met,ENST00000267814,NM_003104.5;SORD,missense_variant,p.Leu151Met,ENST00000558580,;SORD,upstream_gene_variant,,ENST00000560488,;SORD,3_prime_UTR_variant,,ENST00000558789,;SORD,3_prime_UTR_variant,,ENST00000559230,;							MODERATE	514/1074	L172M	DHSO_HUMAN			Transcript		possibly_damaging(0.527)	.	ENSP00000267814		CCDS10116.1			1	
SACS	0	LGGM	GRCh37	13	23907247	23907247	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	5	.	.	ENST00000382298.3:c.10768G>T	p.Gly3590Ter	p.G3590*	ENST00000382298	NM_014363.5	3590	Gga/Tga	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		77	0		HGNC	p.G3590X		SACS		SNV			1				ENST00000382292	protein_coding	getma.org/?cm=var&var=hg19,13,23907247,C,A&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		G/*		A	NA	11042/15324		NA						SACS,stop_gained,p.Gly3590Ter,ENST00000382298,NM_014363.5;SACS,stop_gained,p.Gly3590Ter,ENST00000382292,;SACS,stop_gained,p.Gly2840Ter,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							HIGH	10768/13740	G3590*	SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
CASS4	0	LGGM	GRCh37	20	55027201	55027201	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000371336.3:c.969G>T	p.Leu323Phe	p.L323F	ENST00000371336	NM_001164114.1	323	ttG/ttT	0	1		UPI00001285DB	0	NA	ENST00000360314		ENSG00000087589	15878		52	2.24		HGNC	p.L323F		CASS4		SNV							ENST00000360314	protein_coding	getma.org/?cm=var&var=hg19,20,55027201,G,T&fts=all		hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654		L/F		T	medium	1194/2619		getma.org/?cm=msa&ty=f&p=CASS4_HUMAN&rb=266&re=434&var=L323F	tolerated(0.09)					CASS4,missense_variant,p.Leu323Phe,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,missense_variant,p.Leu323Phe,ENST00000360314,NM_001164116.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;							MODERATE	969/2361	L323F	CASS4_HUMAN			Transcript		benign(0.03)	.	ENSP00000353462		CCDS33492.1			1	
ANK2	0	LGGM	GRCh37	4	114176894	114176894	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	5	.	.	ENST00000357077.4:c.994G>T	p.Gly332Trp	p.G332W	ENST00000357077	NM_001148.4	332	Ggg/Tgg	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		64	2.815		HGNC	p.G332W		ANK2		SNV			1				ENST00000394537	protein_coding	getma.org/?cm=var&var=hg19,4,114176894,G,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00248,Superfamily_domains:SSF48403		G/W		T	medium	1047/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=331&re=363&var=G332W		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Gly332Trp,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Gly332Trp,ENST00000264366,;ANK2,missense_variant,p.Gly311Trp,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Gly332Trp,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Gly347Trp,ENST00000504454,;ANK2,missense_variant,p.Gly311Trp,ENST00000503423,;ANK2,missense_variant,p.Gly311Trp,ENST00000503271,;							MODERATE	994/11874	G332W	ANK2_HUMAN			Transcript		possibly_damaging(0.835)	.	ENSP00000349588		CCDS3702.1			1	
GJA9	0	LGGM	GRCh37	1	39340581	39340581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	33	5	.	.	ENST00000357771.3:c.1190G>T	p.Gly397Val	p.G397V	ENST00000357771	NM_030772.4	397	gGa/gTa	0	1	1	UPI000006E09A	0	NA	ENST00000357771		ENSG00000131233	19155		38	0		HGNC	p.G397V		GJA9		SNV							ENST00000357771	protein_coding	getma.org/?cm=var&var=hg19,1,39340581,C,A&fts=all				G/V		A	neutral	1471/2313		getma.org/?cm=msa&ty=f&p=CXA9_HUMAN&rb=352&re=400&var=G397V	tolerated(0.38)				YES	GJA9,missense_variant,p.Gly397Val,ENST00000454994,;GJA9,missense_variant,p.Gly397Val,ENST00000357771,NM_030772.4;GJA9,missense_variant,p.Gly397Val,ENST00000360786,;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,non_coding_transcript_exon_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000462027,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000494695,;MYCBP,upstream_gene_variant,,ENST00000465771,;							MODERATE	1190/1548	G397V	CXA9_HUMAN			Transcript		benign(0.007)	.	ENSP00000350415		CCDS432.1			1	
DSG4	0	LGGM	GRCh37	18	28979277	28979277	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	5	.	.	ENST00000359747.4:c.1048G>T	p.Gly350Ter	p.G350*	ENST00000359747	NM_001134453.1	350	Gga/Tga	0	1		UPI0000062276	0	NA	ENST00000308128		ENSG00000175065	21307		97	0		HGNC	p.G350X		DSG4		SNV			1				ENST00000359747	protein_coding	getma.org/?cm=var&var=hg19,18,28979277,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF10,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/*		T	NA	1183/3579		NA						DSG4,stop_gained,p.Gly350Ter,ENST00000359747,NM_001134453.1;DSG4,stop_gained,p.Gly350Ter,ENST00000308128,NM_177986.3;RP11-534N16.1,intron_variant,,ENST00000581856,;RP11-534N16.1,intron_variant,,ENST00000578477,;RP11-534N16.1,intron_variant,,ENST00000581452,;							HIGH	1048/3123	G350*	DSG4_HUMAN			Transcript			.	ENSP00000311859		CCDS11897.1			1	
ARL6IP5	0	LGGM	GRCh37	3	69153616	69153616	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	55	5	.	.	ENST00000273258.3:c.396G>T	p.Leu132Phe	p.L132F	ENST00000273258	NM_006407.3	132	ttG/ttT	0	1	1	UPI0000074031	0	NA	ENST00000273258		ENSG00000144746	16937		60	2.505		HGNC	p.L132F		ARL6IP5		SNV							ENST00000273258	protein_coding	getma.org/?cm=var&var=hg19,3,69153616,G,T&fts=all		Pfam_domain:PF03208,hmmpanther:PTHR12859,hmmpanther:PTHR12859:SF2		L/F		T	medium	500/2101		getma.org/?cm=msa&ty=f&p=PRAF3_HUMAN&rb=1&re=156&var=L132F	deleterious(0)	F8WF90_HUMAN,B4DZZ0_HUMAN			YES	ARL6IP5,missense_variant,p.Leu132Phe,ENST00000273258,NM_006407.3;ARL6IP5,intron_variant,,ENST00000478935,;LMOD3,downstream_gene_variant,,ENST00000420581,NM_198271.3;LMOD3,downstream_gene_variant,,ENST00000475434,;LMOD3,downstream_gene_variant,,ENST00000489031,;ARL6IP5,splice_region_variant,,ENST00000484921,;ARL6IP5,downstream_gene_variant,,ENST00000470936,;ARL6IP5,downstream_gene_variant,,ENST00000485444,;							MODERATE	396/567	L132F	PRAF3_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000273258		CCDS2912.1			1	
MYOM2	0	LGGM	GRCh37	8	2065701	2065701	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	5	.	.	ENST00000262113.4:c.3413G>T	p.Trp1138Leu	p.W1138L	ENST00000262113	NM_003970.2	1138	tGg/tTg	0	1	1	UPI000013D260	0	getma.org/pdb.php?prot=MYOM2_HUMAN&from=1132&to=1216&var=W1138L	ENST00000262113		ENSG00000036448	7614		48	2.075		HGNC	p.W563L		MYOM2		SNV							ENST00000523438	protein_coding	getma.org/?cm=var&var=hg19,8,2065701,G,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF48,SMART_domains:SM00409,Superfamily_domains:SSF48726		W/L		T	medium	3554/5014		getma.org/?cm=msa&ty=f&p=MYOM2_HUMAN&rb=1132&re=1216&var=W1138L	tolerated(0.12)	E7EWH9_HUMAN			YES	MYOM2,missense_variant,p.Trp1138Leu,ENST00000262113,NM_003970.2;MYOM2,missense_variant,p.Trp563Leu,ENST00000523438,;MYOM2,upstream_gene_variant,,ENST00000520072,;MYOM2,upstream_gene_variant,,ENST00000519631,;MYOM2,non_coding_transcript_exon_variant,,ENST00000523443,;							MODERATE	3413/4398	W1138L	MYOM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262113		CCDS5957.1			1	
PCDHA3	0	LGGM	GRCh37	5	140181911	140181911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	5	.	.	ENST00000522353.2:c.1129C>A	p.Arg377Ser	p.R377S	ENST00000522353	NM_018906.2	377	Cgc/Agc	0	1	1	UPI00001273CB	0	NA	ENST00000522353		ENSG00000255408	8669		67	1.665		HGNC	p.R377S		PCDHA3		SNV							ENST00000522353	protein_coding	getma.org/?cm=var&var=hg19,5,140181911,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/S		A	low	1129/5260		getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=356&re=446&var=R377S	deleterious_low_confidence(0.03)				YES	PCDHA3,missense_variant,p.Arg377Ser,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Arg377Ser,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;							MODERATE	1129/2853	R377S	PCDA3_HUMAN			Transcript		possibly_damaging(0.534)	.	ENSP00000429808		CCDS54915.1			1	
OR11H4	0	LGGM	GRCh37	14	20711488	20711488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	5	.	.	ENST00000315409.2:c.538G>T	p.Gly180Cys	p.G180C	ENST00000315409	NM_001004479.1	180	Ggt/Tgt	0	1	1	UPI0000041C42	0	NA	ENST00000315409		ENSG00000176198	15347		43	4.085		HGNC	p.G180C		OR11H4		SNV							ENST00000315409	protein_coding	getma.org/?cm=var&var=hg19,14,20711488,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF99,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		G/C		T	high	591/1082		getma.org/?cm=msa&ty=f&p=O11H4_HUMAN&rb=149&re=293&var=G180C	deleterious(0.03)				YES	OR11H4,missense_variant,p.Gly180Cys,ENST00000315409,NM_001004479.1;							MODERATE	538/975	G180C	O11H4_HUMAN			Transcript		benign(0.41)	.	ENSP00000318997		CCDS32034.1			1	
CHRNA9	0	LGGM	GRCh37	4	40356197	40356197	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	5	.	.	ENST00000310169.2:c.1100G>T	p.Arg367Leu	p.R367L	ENST00000310169	NM_017581.3	367	cGg/cTg	0	1	1	UPI000013EFB8	0	NA	ENST00000310169		ENSG00000174343	14079		49	1.865		HGNC	p.R367L		CHRNA9		SNV							ENST00000310169	protein_coding	getma.org/?cm=var&var=hg19,4,40356197,G,T&fts=all		Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF214,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860		R/L		T	low	1239/2276		getma.org/?cm=msa&ty=f&p=ACHA9_HUMAN&rb=244&re=475&var=R367L	tolerated(0.25)				YES	CHRNA9,missense_variant,p.Arg367Leu,ENST00000310169,NM_017581.3;CHRNA9,downstream_gene_variant,,ENST00000509518,;							MODERATE	1100/1440	R367L	ACHA9_HUMAN			Transcript		benign(0.003)	.	ENSP00000312663		CCDS3459.1			1	
PHLPP1	0	LGGM	GRCh37	18	60582240	60582240	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000262719.5:c.2803C>A	p.Arg935Ser	p.R935S	ENST00000262719		935	Cgc/Agc	0	1	1	UPI000051AE2E	0	getma.org/pdb.php?prot=PHLP1_HUMAN&from=918&to=940&var=R935S	ENST00000262719		ENSG00000081913	20610		90	-0.18		HGNC	p.R423S	rs540921427	PHLPP1		SNV							ENST00000400316	protein_coding	getma.org/?cm=var&var=hg19,18,60582240,C,A&fts=all	T:0	Superfamily_domains:SSF52058,SMART_domains:SM00364,SMART_domains:SM00369,Pfam_domain:PF00560,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF252,hmmpanther:PTHR23155,PROSITE_profiles:PS51450		R/S		A	neutral	3037/6390		getma.org/?cm=msa&ty=f&p=PHLP1_HUMAN&rb=898&re=960&var=R935S	deleterious(0.02)		T:0	T:0	YES	PHLPP1,missense_variant,p.Arg423Ser,ENST00000400316,NM_194449.3;PHLPP1,missense_variant,p.Arg935Ser,ENST00000262719,;PHLPP1,missense_variant,p.Arg59Ser,ENST00000591386,;PHLPP1,splice_region_variant,,ENST00000591106,;	0.000124	T:0.0002					MODERATE	2803/5154	R935S	PHLP1_HUMAN		T:0	Transcript		benign(0.317)	.	ENSP00000262719	1.66E-05	CCDS45881.2		T:0.001	1	
CSMD1	0	LGGM	GRCh37	8	3257048	3257048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000537824.1:c.2270C>A	p.Pro757Gln	p.P757Q	ENST00000537824	NM_033225.5	757	cCa/cAa	0	1	1	UPI0001B723C6	0	NA	ENST00000537824		ENSG00000183117	14026		74	1.445		HGNC	p.P757Q		CSMD1		SNV							ENST00000542608	protein_coding	getma.org/?cm=var&var=hg19,8,3257048,G,T&fts=all		Gene3D:2.60.120.290,Superfamily_domains:SSF49854,Superfamily_domains:SSF57535		P/Q		T	low	2270/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=726&re=788&var=P758Q		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Pro238Gln,ENST00000335551,;CSMD1,missense_variant,p.Pro758Gln,ENST00000602557,;CSMD1,missense_variant,p.Pro758Gln,ENST00000520002,;CSMD1,missense_variant,p.Pro758Gln,ENST00000400186,;CSMD1,missense_variant,p.Pro758Gln,ENST00000602723,;CSMD1,missense_variant,p.Pro757Gln,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Pro757Gln,ENST00000542608,;CSMD1,missense_variant,p.Pro757Gln,ENST00000539096,;CSMD1,upstream_gene_variant,,ENST00000523488,;							MODERATE	2270/10695	P758Q				Transcript		probably_damaging(1)	.	ENSP00000441462		CCDS55189.1			1	
CTDSPL2	0	LGGM	GRCh37	15	44788618	44788618	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	5	.	.	ENST00000260327.4:c.732G>T	p.Ala244=	p.A244=	ENST00000260327	NM_016396.2	244	gcG/gcT	0	1	1	UPI000004A0B3	0		ENST00000260327		ENSG00000137770	26936		49			HGNC	p.A172A		CTDSPL2		SNV							ENST00000558373	protein_coding			hmmpanther:PTHR12210		A		T		1295/6828				H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN			YES	CTDSPL2,synonymous_variant,p.=,ENST00000260327,NM_016396.2;CTDSPL2,synonymous_variant,p.=,ENST00000396780,;CTDSPL2,synonymous_variant,p.=,ENST00000558373,;CTDSPL2,synonymous_variant,p.=,ENST00000558966,;CTDSPL2,non_coding_transcript_exon_variant,,ENST00000561189,;CTDSPL2,upstream_gene_variant,,ENST00000560620,;							LOW	732/1401		CTSL2_HUMAN			Transcript			.	ENSP00000260327		CCDS10110.1			1	
ADAP2	0	LGGM	GRCh37	17	29281569	29281569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000330889.3:c.878C>A	p.Pro293Gln	p.P293Q	ENST00000330889	NM_018404.2	293	cCa/cAa	0	1	1	UPI0000127487	0	getma.org/pdb.php?prot=ADAP2_HUMAN&from=256&to=361&var=P293Q	ENST00000330889		ENSG00000184060	16487		58	1.345		HGNC	p.P265Q		ADAP2		SNV							ENST00000581285	protein_coding	getma.org/?cm=var&var=hg19,17,29281569,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF196,Pfam_domain:PF15413,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		P/Q		A	low	1213/2934		getma.org/?cm=msa&ty=f&p=ADAP2_HUMAN&rb=256&re=361&var=P293Q	tolerated(0.06)	K7ENT1_HUMAN,J3QRA6_HUMAN			YES	ADAP2,missense_variant,p.Pro293Gln,ENST00000330889,NM_018404.2;ADAP2,missense_variant,p.Pro299Gln,ENST00000580525,;ADAP2,missense_variant,p.Pro265Gln,ENST00000581285,;ADAP2,missense_variant,p.Pro83Gln,ENST00000584828,;ADAP2,missense_variant,p.Pro57Gln,ENST00000584989,;AC091177.1,downstream_gene_variant,,ENST00000442757,;ADAP2,3_prime_UTR_variant,,ENST00000585130,;ADAP2,non_coding_transcript_exon_variant,,ENST00000470962,;ADAP2,non_coding_transcript_exon_variant,,ENST00000480980,;							MODERATE	878/1146	P293Q	ADAP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329468		CCDS11261.1			1	
EDC3	0	LGGM	GRCh37	15	74967317	74967317	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	5	.	.	ENST00000315127.4:c.149C>A	p.Pro50Gln	p.P50Q	ENST00000315127	NM_025083.3	50	cCa/cAa	0	1	1	UPI000007309A	0	getma.org/pdb.php?prot=EDC3_HUMAN&from=1&to=82&var=P50Q	ENST00000315127		ENSG00000179151	26114		93	1.79		HGNC	p.P50Q		EDC3		SNV							ENST00000426797	protein_coding	getma.org/?cm=var&var=hg19,15,74967317,G,T&fts=all		hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612,Pfam_domain:PF12701		P/Q		T	low	331/3763		getma.org/?cm=msa&ty=f&p=EDC3_HUMAN&rb=1&re=82&var=P50Q	deleterious(0)	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN			YES	EDC3,missense_variant,p.Pro50Gln,ENST00000315127,NM_025083.3,NM_001142444.1;EDC3,missense_variant,p.Pro50Gln,ENST00000426797,NM_001142443.1;EDC3,missense_variant,p.Pro50Gln,ENST00000568176,;EDC3,missense_variant,p.Pro50Gln,ENST00000563009,;EDC3,missense_variant,p.Pro50Gln,ENST00000566243,;EDC3,missense_variant,p.Pro50Gln,ENST00000569561,;EDC3,missense_variant,p.Pro50Gln,ENST00000563292,;EDC3,missense_variant,p.Pro50Gln,ENST00000566828,;EDC3,missense_variant,p.Pro50Gln,ENST00000570138,;EDC3,missense_variant,p.Pro50Gln,ENST00000567813,;EDC3,intron_variant,,ENST00000566219,;EDC3,downstream_gene_variant,,ENST00000566119,;EDC3,upstream_gene_variant,,ENST00000562974,;EDC3,missense_variant,p.Pro50Gln,ENST00000565602,;EDC3,non_coding_transcript_exon_variant,,ENST00000569007,;							MODERATE	149/1527	P50Q	EDC3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000320503		CCDS10267.1			1	
USP8	0	LGGM	GRCh37	15	50782713	50782713	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	5	.	.	ENST00000433963.1:c.2225G>T	p.Arg742Leu	p.R742L	ENST00000433963	NM_001128611.1	742	cGg/cTg	0	1		UPI0000030306	0	NA	ENST00000307179		ENSG00000138592	12631		81	0.975		HGNC	p.R742L		USP8		SNV			1				ENST00000307179	protein_coding	getma.org/?cm=var&var=hg19,15,50782713,G,T&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350		R/L		T	low	2423/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=730&re=773&var=R742L	deleterious(0)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Arg742Leu,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Arg742Leu,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Arg742Leu,ENST00000307179,;USP8,missense_variant,p.Arg636Leu,ENST00000425032,NM_001283049.1;RP11-562A8.5,downstream_gene_variant,,ENST00000560159,;USP8,upstream_gene_variant,,ENST00000419830,;USP8,downstream_gene_variant,,ENST00000561206,;							MODERATE	2225/3357	R742L	UBP8_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000302239		CCDS10137.1			1	
AOX1	0	LGGM	GRCh37	2	201470292	201470292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000374700.2:c.848C>A	p.Pro283Gln	p.P283Q	ENST00000374700	NM_001159.3	283	cCa/cAa	0	1	1	UPI0000071863	0	getma.org/pdb.php?prot=ADO_HUMAN&from=239&to=419&var=P283Q	ENST00000374700		ENSG00000138356	553		90	1.835		HGNC	p.P283Q		AOX1		SNV							ENST00000374700	protein_coding	getma.org/?cm=var&var=hg19,2,201470292,C,A&fts=all		PROSITE_profiles:PS51387,hmmpanther:PTHR11908,Gene3D:3.30.43.10,TIGRFAM_domain:TIGR02969,Pfam_domain:PF00941,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56176		P/Q		A	low	1089/5070		getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=239&re=419&var=P283Q	deleterious(0)	C9J244_HUMAN,B4DNI5_HUMAN			YES	AOX1,missense_variant,p.Pro283Gln,ENST00000374700,NM_001159.3;AOX1,downstream_gene_variant,,ENST00000454629,;AOX1,upstream_gene_variant,,ENST00000485106,;AOX1,upstream_gene_variant,,ENST00000465297,;AOX1,upstream_gene_variant,,ENST00000485965,;							MODERATE	848/4017	P283Q	ADO_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000363832		CCDS33360.1			1	
SDHB	0	LGGM	GRCh37	1	17345435	17345435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	5	.	.	ENST00000375499.3:c.784G>T	p.Ala262Ser	p.A262S	ENST00000375499	NM_003000.2	262	Gct/Tct	0	1	1	UPI0000129380	0	getma.org/pdb.php?prot=DHSB_HUMAN&from=259&to=280&var=A262S	ENST00000375499		ENSG00000117118	10681		78	2.2		HGNC	p.A262S		SDHB		SNV			1				ENST00000375499	protein_coding	getma.org/?cm=var&var=hg19,1,17345435,C,A&fts=all		Gene3D:1.10.1060.10,hmmpanther:PTHR11921,hmmpanther:PTHR11921:SF8,Superfamily_domains:SSF46548,TIGRFAM_domain:TIGR00384		A/S		A	medium	935/1153		getma.org/?cm=msa&ty=f&p=DHSB_HUMAN&rb=229&re=280&var=A262S	deleterious(0.01)	Q70SX8_HUMAN,Q0QEY7_HUMAN			YES	SDHB,missense_variant,p.Ala262Ser,ENST00000375499,NM_003000.2;SDHB,non_coding_transcript_exon_variant,,ENST00000485092,;SDHB,non_coding_transcript_exon_variant,,ENST00000475049,;SDHB,downstream_gene_variant,,ENST00000485515,;							MODERATE	784/843	A262S	DHSB_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000364649		CCDS176.1			1	
CLP1	0	LGGM	GRCh37	11	57428285	57428285	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	5	.	.	ENST00000533682.1:c.655C>A	p.Arg219=	p.R219=	ENST00000533682		219	Cga/Aga	0	1		UPI000012754A	0		ENST00000525602		ENSG00000172409	16999		75			HGNC	p.R155R		CLP1		SNV			1				ENST00000302731	protein_coding			HAMAP:MF_03035,Pfam_domain:PF03205,hmmpanther:PTHR12755,hmmpanther:PTHR12755:SF6,Superfamily_domains:SSF52540		R		A		769/1392				E9PKV5_HUMAN,E9PJM4_HUMAN				CLP1,synonymous_variant,p.=,ENST00000533682,;CLP1,synonymous_variant,p.=,ENST00000529430,;CLP1,synonymous_variant,p.=,ENST00000302731,NM_006831.2,NM_001142597.1;CLP1,synonymous_variant,p.=,ENST00000525602,;CLP1,downstream_gene_variant,,ENST00000529773,;CLP1,downstream_gene_variant,,ENST00000533905,;							LOW	655/1278		CLP1_HUMAN			Transcript			.	ENSP00000436066		CCDS7964.1			1	
PXMP4	0	LGGM	GRCh37	20	32302489	32302489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000409299.3:c.167G>T	p.Arg56Leu	p.R56L	ENST00000409299	NM_007238.4	56	cGg/cTg	0	1	1	UPI000013C727	0	NA	ENST00000409299		ENSG00000101417	15920		61	3.12		HGNC	p.R56L		PXMP4		SNV							ENST00000344022	protein_coding	getma.org/?cm=var&var=hg19,20,32302489,C,A&fts=all		Pfam_domain:PF02466,PIRSF_domain:PIRSF013674,hmmpanther:PTHR15460		R/L		A	medium	260/1732		getma.org/?cm=msa&ty=f&p=PXMP4_HUMAN&rb=20&re=149&var=R56L	deleterious(0)	B4DLI8_HUMAN			YES	PXMP4,missense_variant,p.Arg56Leu,ENST00000409299,NM_007238.4;PXMP4,missense_variant,p.Arg56Leu,ENST00000344022,NM_183397.2;PXMP4,missense_variant,p.Arg56Leu,ENST00000217398,;							MODERATE	167/639	R56L	PXMP4_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000386385		CCDS13225.1			1	
REN	0	LGGM	GRCh37	1	204130472	204130472	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	0	5	.	.	ENST00000272190.8:c.321G>A	p.Ser107=	p.S107=	ENST00000272190	NM_000537.3	107	tcG/tcA	0	1	1	UPI000000091F	0		ENST00000272190		ENSG00000143839	9958		5			HGNC	p.S107S	rs371626384	REN	0.000522	SNV	T:0		1	0.00011			ENST00000367195	protein_coding		T:0	hmmpanther:PTHR13683:SF77,hmmpanther:PTHR13683,PROSITE_patterns:PS00141,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630,Prints_domain:PR00792		S	T:0.0001	T		350/1447	0.000137			Q9UQK5_HUMAN	T:0	T:0	YES	REN,synonymous_variant,p.=,ENST00000367195,;REN,synonymous_variant,p.=,ENST00000272190,NM_000537.3;	0.000136	T:0.0002					LOW	321/1221		RENI_HUMAN		T:0.001	Transcript			common_variant	ENSP00000272190	0.00014	CCDS30981.1		T:0	1	
KIF23	0	LGGM	GRCh37	15	69739277	69739277	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	5	.	.	ENST00000260363.4:c.2864C>A	p.Pro955His	p.P955H	ENST00000260363	NM_138555.3	955	cCc/cAc	0	1	1	UPI0000072141	0	NA	ENST00000260363		ENSG00000137807	6392		50	0		HGNC	p.P851H		KIF23		SNV			1				ENST00000352331	protein_coding	getma.org/?cm=var&var=hg19,15,69739277,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF88		P/H		A	neutral	2981/3610		getma.org/?cm=msa&ty=f&p=KIF23_HUMAN&rb=801&re=959&var=P955H	deleterious_low_confidence(0)				YES	KIF23,missense_variant,p.Pro955His,ENST00000260363,NM_138555.3,NM_001281301.1;KIF23,missense_variant,p.Pro851His,ENST00000559279,NM_004856.6;KIF23,missense_variant,p.Pro947His,ENST00000395392,;KIF23,missense_variant,p.Pro851His,ENST00000352331,;KIF23,missense_variant,p.Pro668His,ENST00000558585,;KIF23,missense_variant,p.Pro668His,ENST00000537891,;KIF23,3_prime_UTR_variant,,ENST00000561089,;KIF23,non_coding_transcript_exon_variant,,ENST00000558303,;KIF23,non_coding_transcript_exon_variant,,ENST00000559944,;KIF23,non_coding_transcript_exon_variant,,ENST00000560125,;							MODERATE	2864/2883	P955H	KIF23_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000260363		CCDS32278.1			1	
UPP1	0	LGGM	GRCh37	7	48139362	48139362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	5	.	.	ENST00000331803.4:c.140C>A	p.Pro47Gln	p.P47Q	ENST00000331803	NM_001287426.1	47	cCa/cAa	0	1	1	UPI0000137AC5	0	getma.org/pdb.php?prot=UPP1_HUMAN&from=1&to=53&var=P47Q	ENST00000331803		ENSG00000183696	12576		79	1.275		HGNC	p.P47Q		UPP1		SNV							ENST00000416681	protein_coding	getma.org/?cm=var&var=hg19,7,48139362,C,A&fts=all		hmmpanther:PTHR21234,hmmpanther:PTHR21234:SF15,TIGRFAM_domain:TIGR01719,Superfamily_domains:SSF53167		P/Q		A	low	763/1932		getma.org/?cm=msa&ty=f&p=UPP1_HUMAN&rb=1&re=53&var=P47Q	tolerated(0.09)	C9K0J2_HUMAN,C9JIP2_HUMAN,C9J486_HUMAN			YES	UPP1,missense_variant,p.Pro47Gln,ENST00000331803,NM_001287426.1;UPP1,missense_variant,p.Pro47Gln,ENST00000341253,NM_181597.1;UPP1,missense_variant,p.Pro47Gln,ENST00000395564,NM_003364.2;UPP1,missense_variant,p.Pro47Gln,ENST00000436673,;UPP1,missense_variant,p.Pro47Gln,ENST00000416681,;UPP1,intron_variant,,ENST00000429491,;UPP1,downstream_gene_variant,,ENST00000432131,;UPP1,intron_variant,,ENST00000482015,;UPP1,missense_variant,p.Pro47Gln,ENST00000421046,;UPP1,missense_variant,p.Pro47Gln,ENST00000444999,;UPP1,intron_variant,,ENST00000457596,NM_001287428.1;UPP1,intron_variant,,ENST00000395560,NM_001287429.1;UPP1,intron_variant,,ENST00000417464,;UPP1,upstream_gene_variant,,ENST00000495446,;							MODERATE	140/933	P47Q	UPP1_HUMAN			Transcript		benign(0.087)	.	ENSP00000330032		CCDS5507.1			1	
CBR4	0	LGGM	GRCh37	4	169911356	169911356	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	5	.	.	ENST00000306193.3:c.659C>A	p.Pro220Gln	p.P220Q	ENST00000306193	NM_032783.4	220	cCg/cAg	0	1	1	UPI000006EEEF	0	getma.org/pdb.php?prot=CBR4_HUMAN&from=168&to=237&var=P220Q	ENST00000306193		ENSG00000145439	25891		69	-0.15		HGNC	p.P220Q		CBR4		SNV							ENST00000306193	protein_coding	getma.org/?cm=var&var=hg19,4,169911356,G,T&fts=all		hmmpanther:PTHR24312,hmmpanther:PTHR24312:SF0,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		P/Q		T	neutral	828/3443		getma.org/?cm=msa&ty=f&p=CBR4_HUMAN&rb=168&re=237&var=P220Q	deleterious(0.04)				YES	CBR4,missense_variant,p.Pro220Gln,ENST00000306193,NM_032783.4;CBR4,intron_variant,,ENST00000509108,;CBR4,intron_variant,,ENST00000510042,;							MODERATE	659/714	P220Q	CBR4_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000303525		CCDS3812.1			1	
SLC4A1AP	0	LGGM	GRCh37	2	27886871	27886871	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	17	5	.	.	ENST00000326019.6:c.252G>T	p.Ala84=	p.A84=	ENST00000326019	NM_018158.2	84	gcG/gcT	0	1	1	UPI000006F66B	0		ENST00000326019		ENSG00000163798	13813		22			HGNC	p.A84A		SLC4A1AP		SNV							ENST00000326019	protein_coding			Low_complexity_(Seg):seg		A		T		534/2959				B4DV74_HUMAN			YES	SLC4A1AP,synonymous_variant,p.=,ENST00000326019,NM_018158.2;SUPT7L,upstream_gene_variant,,ENST00000337768,NM_014860.1,NM_001282729.1;SUPT7L,upstream_gene_variant,,ENST00000406540,;SUPT7L,upstream_gene_variant,,ENST00000464789,;SUPT7L,upstream_gene_variant,,ENST00000405491,;SUPT7L,upstream_gene_variant,,ENST00000404798,NM_001282732.1;SLC4A1AP,upstream_gene_variant,,ENST00000427424,;							LOW	252/2391		NADAP_HUMAN			Transcript			.	ENSP00000323837		CCDS33166.1			1	
EPM2A	0	LGGM	GRCh37	6	145956433	145956433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000367519.3:c.666G>T	p.Arg222Ser	p.R222S	ENST00000367519	NM_005670.3	222	agG/agT	0	1	1	UPI000006E60E	0	getma.org/pdb.php?prot=EPM2A_HUMAN&from=164&to=311&var=R222S	ENST00000367519		ENSG00000112425	3413		41	1.355		HGNC	p.R222S		EPM2A		SNV			1				ENST00000367519	protein_coding	getma.org/?cm=var&var=hg19,6,145956433,C,A&fts=all		PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF48,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,Superfamily_domains:SSF52799		R/S		A	low	1192/3633		getma.org/?cm=msa&ty=f&p=EPM2A_HUMAN&rb=164&re=311&var=R222S	deleterious(0.01)	H0UI04_HUMAN			YES	EPM2A,missense_variant,p.Arg222Ser,ENST00000367519,NM_005670.3;EPM2A,missense_variant,p.Arg142Ser,ENST00000435470,;EPM2A,missense_variant,p.Arg122Ser,ENST00000450221,;EPM2A,non_coding_transcript_exon_variant,,ENST00000496228,;EPM2A,non_coding_transcript_exon_variant,,ENST00000489412,;							MODERATE	666/996	R222S	EPM2A_HUMAN			Transcript		benign(0.079)	.	ENSP00000356489		CCDS5206.1			1	
ASIC5	0	LGGM	GRCh37	4	156764844	156764844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	5	.	.	ENST00000537611.2:c.850C>A	p.Arg284Ser	p.R284S	ENST00000537611	NM_017419.2	284	Cgc/Agc	0	1	1	UPI00000433EB	0	getma.org/pdb.php?prot=ASIC5_HUMAN&from=201&to=400&var=R284S	ENST00000537611		ENSG00000256394	17537		56	1.615		HGNC	p.R284S		ASIC5		SNV							ENST00000537611	protein_coding	getma.org/?cm=var&var=hg19,4,156764844,G,T&fts=all		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF126,Gene3D:2qtsA02,Pfam_domain:PF00858		R/S		T	low	897/1692		getma.org/?cm=msa&ty=f&p=ASIC5_HUMAN&rb=201&re=400&var=R284S	tolerated(0.26)				YES	ASIC5,missense_variant,p.Arg284Ser,ENST00000537611,NM_017419.2;							MODERATE	850/1518	R284S	ASIC5_HUMAN			Transcript		benign(0.062)	.	ENSP00000442477		CCDS3793.1			1	
DDX10	0	LGGM	GRCh37	11	108788669	108788669	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	5	.	.	ENST00000322536.3:c.2374C>A	p.Pro792Thr	p.P792T	ENST00000322536	NM_004398.2	792	Cca/Aca	0	1	1	UPI0000140E62	0	NA	ENST00000322536		ENSG00000178105	2735		76	1.59		HGNC	p.P792T		DDX10		SNV							ENST00000526794	protein_coding	getma.org/?cm=var&var=hg19,11,108788669,C,A&fts=all				P/T		A	low	2503/3264		getma.org/?cm=msa&ty=f&p=DDX10_HUMAN&rb=535&re=873&var=P792T	deleterious(0.04)				YES	DDX10,missense_variant,p.Pro792Thr,ENST00000526794,;DDX10,missense_variant,p.Pro792Thr,ENST00000322536,NM_004398.2;DDX10,non_coding_transcript_exon_variant,,ENST00000524979,;DDX10,downstream_gene_variant,,ENST00000530116,;							MODERATE	2374/2628	P792T	DDX10_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000314348		CCDS8342.1			1	
ZNF619	0	LGGM	GRCh37	3	40529241	40529241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000447116.2:c.1360C>A	p.Arg454Ser	p.R454S	ENST00000447116	NM_001145082.2	454	Cgc/Agc	0	1		UPI000006CCD4	0	NA	ENST00000314686		ENSG00000177873	26910		41	-0.09		HGNC	p.R454S		ZNF619		SNV							ENST00000521353	protein_coding	getma.org/?cm=var&var=hg19,3,40529241,C,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF138,PROSITE_profiles:PS50157		R/S		A	neutral	1597/2233		getma.org/?cm=msa&ty=f&p=ZN619_HUMAN&rb=368&re=398&var=R398S	tolerated(0.51)					ZNF619,missense_variant,p.Arg454Ser,ENST00000447116,NM_001145082.2;ZNF619,missense_variant,p.Arg414Ser,ENST00000429348,NM_001145093.2;ZNF619,missense_variant,p.Arg398Ser,ENST00000314686,;ZNF619,missense_variant,p.Arg370Ser,ENST00000456778,NM_001145083.1;ZNF619,missense_variant,p.Arg405Ser,ENST00000522736,;ZNF619,missense_variant,p.Arg454Ser,ENST00000521353,;ZNF619,missense_variant,p.Arg414Ser,ENST00000432264,;ZNF619,non_coding_transcript_exon_variant,,ENST00000520737,;ZNF619,3_prime_UTR_variant,,ENST00000494154,;							MODERATE	1192/1683	R398S	ZN619_HUMAN			Transcript		benign(0.009)	.	ENSP00000322529					1	
WBP4	0	LGGM	GRCh37	13	41650189	41650189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	89	5	.	.	ENST00000379487.3:c.572G>T	p.Trp191Leu	p.W191L	ENST00000379487	NM_007187.3	191	tGg/tTg	0	1	1	UPI0000072671	0	getma.org/pdb.php?prot=WBP4_HUMAN&from=166&to=194&var=W191L	ENST00000379487		ENSG00000120688	12739		94	3.875		HGNC	p.W191L		WBP4		SNV							ENST00000379487	protein_coding	getma.org/?cm=var&var=hg19,13,41650189,G,T&fts=all		Gene3D:2.20.70.10,Pfam_domain:PF00397,PROSITE_patterns:PS01159,PROSITE_profiles:PS50020,hmmpanther:PTHR13173,SMART_domains:SM00456,Superfamily_domains:SSF51045		W/L		T	high	972/2618		getma.org/?cm=msa&ty=f&p=WBP4_HUMAN&rb=146&re=214&var=W191L	deleterious(0)				YES	WBP4,missense_variant,p.Trp191Leu,ENST00000379487,NM_007187.3;WBP4,missense_variant,p.Trp170Leu,ENST00000542082,;							MODERATE	572/1131	W191L	WBP4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000368801		CCDS9375.1			1	
CABLES1	0	LGGM	GRCh37	18	20833868	20833868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	24	5	.	.	ENST00000256925.7:c.1729C>A	p.Leu577Ile	p.L577I	ENST00000256925	NM_001100619.2	577	Ctc/Atc	0	1	1	UPI00004C2CAA	0	NA	ENST00000256925		ENSG00000134508	25097		29	0.785		HGNC	p.L312I		CABLES1		SNV							ENST00000420687	protein_coding	getma.org/?cm=var&var=hg19,18,20833868,C,A&fts=all		hmmpanther:PTHR22896,hmmpanther:PTHR22896:SF1,Gene3D:1.10.472.10,Pfam_domain:PF00134,PIRSF_domain:PIRSF025798,Superfamily_domains:SSF47954		L/I		A	neutral	1729/5002		getma.org/?cm=msa&ty=f&p=CABL1_HUMAN&rb=494&re=616&var=L577I	tolerated(0.08)	A7K6Y5_HUMAN			YES	CABLES1,missense_variant,p.Leu577Ile,ENST00000256925,NM_001100619.2;CABLES1,missense_variant,p.Leu312Ile,ENST00000420687,NM_138375.2;CABLES1,missense_variant,p.Leu250Ile,ENST00000400473,NM_001256438.1;TMEM241,intron_variant,,ENST00000450466,;RP11-17J14.2,downstream_gene_variant,,ENST00000585184,;TMEM241,intron_variant,,ENST00000578790,;CABLES1,intron_variant,,ENST00000585061,;CABLES1,3_prime_UTR_variant,,ENST00000579963,;TMEM241,intron_variant,,ENST00000581444,;							MODERATE	1729/1902	L577I	CABL1_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000256925		CCDS42417.1			1	
TCHH	0	LGGM	GRCh37	1	152080800	152080800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000368804.1:c.4893G>T	p.Arg1631Ser	p.R1631S	ENST00000368804	NM_007113.3	1631	agG/agT	0	1	1	UPI0000458A5E	0	NA	ENST00000368804		ENSG00000159450	11791		58	1.935		HGNC	p.R1631S		TCHH		SNV							ENST00000368804	protein_coding	getma.org/?cm=var&var=hg19,1,152080800,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		R/S		A	medium	4893/6900		getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=1301&re=1899&var=R1631S		Q5D861_HUMAN,A2RRS3_HUMAN			YES	TCHH,missense_variant,p.Arg1631Ser,ENST00000368804,NM_007113.3;							MODERATE	4893/5832	R1631S	TRHY_HUMAN			Transcript		unknown(0)	.	ENSP00000357794		CCDS41396.1			1	
MYO1H	0	LGGM	GRCh37	12	109838906	109838906	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	5	.	.	ENST00000310903.5:c.531C>A	p.Pro177=	p.P177=	ENST00000310903		177	ccC/ccA	0	1	1	UPI0001AFF951	0		ENST00000310903		ENSG00000174527	13879		87			HGNC	p.P177P		MYO1H		SNV							ENST00000431443	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,SMART_domains:SM00242,Superfamily_domains:SSF52540		P		A		637/4364				S4R387_HUMAN,F5H3C6_HUMAN			YES	MYO1H,synonymous_variant,p.=,ENST00000310903,;MYO1H,synonymous_variant,p.=,ENST00000431443,NM_001101421.3;MYO1H,upstream_gene_variant,,ENST00000542883,;							LOW	531/3069					Transcript			.	ENSP00000439182		CCDS53826.1			1	
NR2C2	0	LGGM	GRCh37	3	15062423	15062423	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	5	.	.	ENST00000323373.6:c.597G>T	p.Met199Ile	p.M199I	ENST00000323373	NM_003298.3	199	atG/atT	0	1		UPI0000047515	0	getma.org/pdb.php?prot=NR2C2_HUMAN&from=115&to=184&var=M180I	ENST00000393102		ENSG00000177463	7972		57	1.25		HGNC	p.M199I		NR2C2		SNV							ENST00000323373	protein_coding	getma.org/?cm=var&var=hg19,3,15062423,G,T&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00105,Prints_domain:PR00047,Prints_domain:PR00398,PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF48,SMART_domains:SM00399,Superfamily_domains:SSF57716		M/I		T	low	665/1937		getma.org/?cm=msa&ty=f&p=NR2C2_HUMAN&rb=115&re=184&var=M180I	tolerated(0.06)	C9JMI6_HUMAN				NR2C2,missense_variant,p.Met180Ile,ENST00000425241,;NR2C2,missense_variant,p.Met199Ile,ENST00000323373,NM_003298.3;NR2C2,missense_variant,p.Met180Ile,ENST00000393102,;NR2C2,missense_variant,p.Met180Ile,ENST00000406272,;NR2C2,missense_variant,p.Met199Ile,ENST00000437120,;NR2C2,upstream_gene_variant,,ENST00000478572,;NR2C2,non_coding_transcript_exon_variant,,ENST00000475707,;							MODERATE	540/1791	M180I	NR2C2_HUMAN			Transcript		benign(0.389)	.	ENSP00000376814					1	
CEP192	0	LGGM	GRCh37	18	13049857	13049857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000506447.1:c.2984C>A	p.Ser995Tyr	p.S995Y	ENST00000506447	NM_032142.3	995	tCt/tAt	0	1	1	UPI0001B09235	0	NA	ENST00000506447		ENSG00000101639	25515		58	2.045		HGNC	p.S995Y		CEP192		SNV							ENST00000506447	protein_coding	getma.org/?cm=var&var=hg19,18,13049857,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		S/Y		A	medium	3064/7960		getma.org/?cm=msa&ty=f&p=CE192_HUMAN&rb=6&re=1939&var=S399Y	deleterious(0)	E9PF99_HUMAN			YES	CEP192,missense_variant,p.Ser995Tyr,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.Ser399Tyr,ENST00000325971,;CEP192,missense_variant,p.Ser534Tyr,ENST00000511820,;CEP192,missense_variant,p.Ser520Tyr,ENST00000430049,;CEP192,missense_variant,p.Ser736Tyr,ENST00000589596,;CEP192,missense_variant,p.Ser595Tyr,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000513432,;							MODERATE	2984/7614	S399Y				Transcript		probably_damaging(1)	.	ENSP00000427550		CCDS32792.2			1	
CEP290	0	LGGM	GRCh37	12	88453767	88453767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000552810.1:c.6553G>T	p.Gly2185Trp	p.G2185W	ENST00000552810	NM_025114.3	2185	Ggg/Tgg	0	1	1	UPI0000D60D15	0	NA	ENST00000552810		ENSG00000198707	29021		61	2.015		HGNC	p.G1245W		CEP290		SNV			1				ENST00000547691	protein_coding	getma.org/?cm=var&var=hg19,12,88453767,C,A&fts=all		hmmpanther:PTHR18879		G/W		A	medium	6897/7948		getma.org/?cm=msa&ty=f&p=CE290_HUMAN&rb=1786&re=2419&var=G2185W					YES	CEP290,missense_variant,p.Gly2185Trp,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Gly2187Trp,ENST00000309041,;CEP290,missense_variant,p.Gly1245Trp,ENST00000397838,;CEP290,missense_variant,p.Gly1245Trp,ENST00000547691,;RP11-474L23.3,upstream_gene_variant,,ENST00000549191,;							MODERATE	6553/7440	G2185W	CE290_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000448012		CCDS55858.1			1	
RRH	0	LGGM	GRCh37	4	110757241	110757241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	5	.	.	ENST00000317735.4:c.476C>A	p.Pro159His	p.P159H	ENST00000317735	NM_006583.2	159	cCt/cAt	0	1	1	UPI000005043C	0	getma.org/pdb.php?prot=OPSX_HUMAN&from=42&to=294&var=P159H	ENST00000317735		ENSG00000180245	10450		77	3.8		HGNC	p.P159H		RRH		SNV							ENST00000317735	protein_coding	getma.org/?cm=var&var=hg19,4,110757241,C,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24240,hmmpanther:PTHR24240:SF71,PROSITE_profiles:PS50262		P/H		A	high	510/1455		getma.org/?cm=msa&ty=f&p=OPSX_HUMAN&rb=42&re=294&var=P159H	deleterious(0)				YES	RRH,missense_variant,p.Pro159His,ENST00000317735,NM_006583.2;							MODERATE	476/1014	P159H	OPSX_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000314992		CCDS3687.1			1	
XPR1	0	LGGM	GRCh37	1	180805747	180805747	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	5	.	.	ENST00000367590.4:c.1396C>A	p.Arg466=	p.R466=	ENST00000367590	NM_004736.3	466	Cga/Aga	0	1	1	UPI0000071111	0		ENST00000367590		ENSG00000143324	12827		82			HGNC	p.R466R		XPR1		SNV			1				ENST00000367590	protein_coding			Pfam_domain:PF03124,PROSITE_profiles:PS51380,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF4		R		A		1594/8474							YES	XPR1,synonymous_variant,p.=,ENST00000367590,NM_004736.3;XPR1,intron_variant,,ENST00000367589,NM_001135669.1;XPR1,upstream_gene_variant,,ENST00000498177,;							LOW	1396/2091		XPR1_HUMAN			Transcript			.	ENSP00000356562		CCDS1340.1			1	
AMOTL1	0	LGGM	GRCh37	11	94533374	94533374	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	5	.	.	ENST00000433060.2:c.1018G>T	p.Gly340Trp	p.G340W	ENST00000433060	NM_130847.2	340	Ggg/Tgg	0	1	1	UPI00000742C2	0	NA	ENST00000433060		ENSG00000166025	17811		92	1.245		HGNC	p.G340W		AMOTL1		SNV							ENST00000433060	protein_coding	getma.org/?cm=var&var=hg19,11,94533374,G,T&fts=all		hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12		G/W		T	low	1159/8970		getma.org/?cm=msa&ty=f&p=AMOL1_HUMAN&rb=201&re=400&var=G340W	deleterious(0)				YES	AMOTL1,missense_variant,p.Gly340Trp,ENST00000433060,NM_130847.2;AMOTL1,missense_variant,p.Gly290Trp,ENST00000317829,;AMOTL1,missense_variant,p.Gly340Trp,ENST00000317837,;AMOTL1,downstream_gene_variant,,ENST00000299004,;							MODERATE	1018/2871	G340W	AMOL1_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000387739		CCDS44712.1			1	
N6AMT2	0	LGGM	GRCh37	13	21311908	21311908	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000382758.1:c.181C>A	p.Leu61Met	p.L61M	ENST00000382758		61	Ctg/Atg	0	1		UPI0000039E71	0	NA	ENST00000382754		ENSG00000150456	27351		41	2.095		HGNC	p.L61M		N6AMT2		SNV							ENST00000382754	protein_coding	getma.org/?cm=var&var=hg19,13,21311908,G,T&fts=all		hmmpanther:PTHR13200:SF0,hmmpanther:PTHR13200,Pfam_domain:PF10237,Superfamily_domains:SSF53335		L/M		T	medium	262/875		getma.org/?cm=msa&ty=f&p=N6MT2_HUMAN&rb=49&re=208&var=L61M	tolerated(0.1)	B3KP02_HUMAN				N6AMT2,missense_variant,p.Leu61Met,ENST00000382758,;N6AMT2,missense_variant,p.Leu61Met,ENST00000382754,NM_174928.1;							MODERATE	181/645	L61M	N6MT2_HUMAN			Transcript		possibly_damaging(0.83)	.	ENSP00000372202		CCDS9293.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102446145	102446145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	5	.	.	ENST00000360184.4:c.608C>A	p.Pro203Gln	p.P203Q	ENST00000360184	NM_001376.4	203	cCg/cAg	0	1	1	UPI00001B515A	0	NA	ENST00000360184		ENSG00000197102	2961		87	3.25		HGNC	p.P203Q		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102446145,C,A&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676		P/Q		A	medium	772/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=201&re=237&var=P203Q		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Pro203Gln,ENST00000360184,NM_001376.4;							MODERATE	608/13941	P203Q	DYHC1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000348965		CCDS9966.1			1	
SCG2	0	LGGM	GRCh37	2	224463848	224463848	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	5	.	.	ENST00000305409.2:c.153C>A	p.Pro51=	p.P51=	ENST00000305409	NM_003469.4	51	ccC/ccA	0	1	1	UPI000013EA45	0		ENST00000305409		ENSG00000171951	10575		53			HGNC	p.P51P		SCG2		SNV							ENST00000305409	protein_coding			Pfam_domain:PF01271,hmmpanther:PTHR15119,hmmpanther:PTHR15119:SF0		P		T		386/2576				C9JQI2_HUMAN,C9JDT0_HUMAN			YES	SCG2,synonymous_variant,p.=,ENST00000305409,NM_003469.4;SCG2,synonymous_variant,p.=,ENST00000421386,;SCG2,synonymous_variant,p.=,ENST00000433889,;							LOW	153/1854		SCG2_HUMAN			Transcript			.	ENSP00000304133		CCDS2457.1			1	
DOK5	0	LGGM	GRCh37	20	53226967	53226967	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000262593.5:c.640C>A	p.Arg214=	p.R214=	ENST00000262593	NM_018431.3	214	Cga/Aga	0	1	1	UPI00001296AB	0		ENST00000262593		ENSG00000101134	16173		41			HGNC	p.R214R		DOK5		SNV							ENST00000262593	protein_coding			Superfamily_domains:SSF50729,SMART_domains:SM00310,Gene3D:2.30.29.30,Pfam_domain:PF02174,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF45,PROSITE_profiles:PS51064		R		A		990/1963							YES	DOK5,synonymous_variant,p.=,ENST00000262593,NM_018431.3;DOK5,synonymous_variant,p.=,ENST00000395939,;							LOW	640/921		DOK5_HUMAN			Transcript			.	ENSP00000262593		CCDS13446.1			1	
SYNM	0	LGGM	GRCh37	15	99669902	99669902	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	5	.	.	ENST00000336292.6:c.1334C>A	p.Pro445His	p.P445H	ENST00000336292	NM_145728.2	445	cCt/cAt	0	1	1	UPI00001B03B3	0		ENST00000336292		ENSG00000182253	24466		56			HGNC	p.P160H		SYNM		SNV							ENST00000560674	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93		P/H		A		1454/7322			deleterious(0)				YES	SYNM,missense_variant,p.Pro445His,ENST00000336292,NM_145728.2;SYNM,missense_variant,p.Pro445His,ENST00000328642,NM_015286.5;SYNM,missense_variant,p.Pro160His,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,;							MODERATE	1334/4695		SYNEM_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000336775					1	
ZFAT	0	LGGM	GRCh37	8	135614787	135614787	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	40	5	.	.	ENST00000377838.3:c.1175G>T	p.Cys392Phe	p.C392F	ENST00000377838	NM_020863.3	392	tGc/tTc	0	1	1	UPI0000210061	0	NA	ENST00000377838		ENSG00000066827	19899		45	0		HGNC	p.C392F		ZFAT		SNV							ENST00000523243	protein_coding	getma.org/?cm=var&var=hg19,8,135614787,C,A&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0		C/F		A	neutral	1350/4597		getma.org/?cm=msa&ty=f&p=ZFAT_HUMAN&rb=338&re=403&var=C392F	tolerated(0.13)				YES	ZFAT,missense_variant,p.Cys380Phe,ENST00000520727,NM_001029939.3;ZFAT,missense_variant,p.Cys392Phe,ENST00000377838,NM_020863.3,NM_001174157.1;ZFAT,missense_variant,p.Cys380Phe,ENST00000429442,;ZFAT,missense_variant,p.Cys380Phe,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Cys380Phe,ENST00000520356,NM_001174158.1;ZFAT,missense_variant,p.Cys330Phe,ENST00000523399,;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,missense_variant,p.Cys392Phe,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;ZFAT,upstream_gene_variant,,ENST00000519827,;							MODERATE	1175/3732	C392F	ZFAT_HUMAN			Transcript		benign(0.341)	.	ENSP00000367069		CCDS47924.1			1	
HYKK	0	LGGM	GRCh37	15	78819796	78819796	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000388988.4:c.552G>T	p.Leu184=	p.L184=	ENST00000388988	NM_001013619.2	184	ctG/ctT	0	1	1	UPI0000366A7F	0		ENST00000388988		ENSG00000188266	34403		58			HGNC	p.L184L		HYKK		SNV							ENST00000408962	protein_coding			hmmpanther:PTHR21064:SF1,hmmpanther:PTHR21064,Gene3D:3.90.1200.10,Pfam_domain:PF01636,Superfamily_domains:SSF56112		L		T		665/1235				F8W6X5_HUMAN			YES	HYKK,synonymous_variant,p.=,ENST00000566332,;HYKK,synonymous_variant,p.=,ENST00000388988,NM_001013619.2;HYKK,synonymous_variant,p.=,ENST00000569878,;HYKK,synonymous_variant,p.=,ENST00000408962,NM_001083612.1;HYKK,synonymous_variant,p.=,ENST00000563233,;HYKK,3_prime_UTR_variant,,ENST00000566289,;							LOW	552/1122		HYKK_HUMAN			Transcript			.	ENSP00000373640		CCDS42063.1			1	
KMT2E	0	LGGM	GRCh37	7	104752311	104752311	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	55	5	.	.	ENST00000311117.3:c.4108G>T	p.Gly1370Trp	p.G1370W	ENST00000311117	NM_182931.2	1370	Ggg/Tgg	0	1		UPI0000074133	0	NA	ENST00000257745		ENSG00000005483	18541		60	0.895		HGNC	p.G1370W		KMT2E		SNV							ENST00000311117	protein_coding	getma.org/?cm=var&var=hg19,7,104752311,G,T&fts=all		hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9		G/W		T	low	4494/6714		getma.org/?cm=msa&ty=f&p=MLL5_HUMAN&rb=1248&re=1447&var=G1370W	deleterious_low_confidence(0)	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN				KMT2E,missense_variant,p.Gly1328Trp,ENST00000334877,;KMT2E,missense_variant,p.Gly1370Trp,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Gly1370Trp,ENST00000257745,NM_018682.3;KMT2E,missense_variant,p.Gly425Trp,ENST00000334914,;SRPK2,downstream_gene_variant,,ENST00000357311,NM_182691.2;SRPK2,downstream_gene_variant,,ENST00000393651,NM_182692.2;KMT2E,downstream_gene_variant,,ENST00000473063,;SRPK2,intron_variant,,ENST00000493638,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;SRPK2,downstream_gene_variant,,ENST00000465072,;KMT2E,downstream_gene_variant,,ENST00000478079,;							MODERATE	4108/5577	G1370W	KMT2E_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000257745		CCDS34723.1			1	
NFXL1	0	LGGM	GRCh37	4	47886435	47886435	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	5	.	.	ENST00000507489.1:c.1844G>T	p.Trp615Leu	p.W615L	ENST00000507489	NM_001278624.1	615	tGg/tTg	0	1		UPI000018DB15	0	NA	ENST00000329043		ENSG00000170448	18726		90	1.5		HGNC	p.W615L		NFXL1		SNV							ENST00000329043	protein_coding	getma.org/?cm=var&var=hg19,4,47886435,C,A&fts=all		hmmpanther:PTHR12360:SF1,hmmpanther:PTHR12360,SMART_domains:SM00438		W/L		A	low	1913/2271		getma.org/?cm=msa&ty=f&p=NFXL1_HUMAN&rb=591&re=790&var=W615L	deleterious(0.04)					NFXL1,missense_variant,p.Trp615Leu,ENST00000507489,NM_001278624.1;NFXL1,missense_variant,p.Trp615Leu,ENST00000381538,NM_152995.5,NM_001278623.1;NFXL1,missense_variant,p.Trp615Leu,ENST00000329043,;NFXL1,missense_variant,p.Trp615Leu,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;							MODERATE	1844/2202	W615L	NFXL1_HUMAN			Transcript		possibly_damaging(0.723)	.	ENSP00000333113					1	
TANK	0	LGGM	GRCh37	2	162087757	162087757	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	5	.	.	ENST00000392749.2:c.796C>A	p.Gln266Lys	p.Q266K	ENST00000392749	NM_001199135.1	266	Caa/Aaa	0	1		UPI000013D02B	0	NA	ENST00000259075		ENSG00000136560	11562		79	1.67		HGNC	p.Q21K		TANK		SNV							ENST00000439442	protein_coding	getma.org/?cm=var&var=hg19,2,162087757,C,A&fts=all		hmmpanther:PTHR15249,hmmpanther:PTHR15249:SF0		Q/K		A	low	1001/2152		getma.org/?cm=msa&ty=f&p=TANK_HUMAN&rb=187&re=386&var=Q266K	tolerated(0.09)	Q53TI5_HUMAN,Q4ZG76_HUMAN,E7EWR8_HUMAN				TANK,missense_variant,p.Gln266Lys,ENST00000392749,NM_001199135.1;TANK,missense_variant,p.Gln266Lys,ENST00000405852,;TANK,missense_variant,p.Gln266Lys,ENST00000259075,NM_004180.2;TANK,missense_variant,p.Gln157Lys,ENST00000437623,;TANK,missense_variant,p.Gln21Lys,ENST00000439442,;TANK,intron_variant,,ENST00000402568,;TANK,intron_variant,,ENST00000406287,;TANK,downstream_gene_variant,,ENST00000429217,;AC009299.2,intron_variant,,ENST00000421122,;AC009299.2,intron_variant,,ENST00000445372,;TANK,downstream_gene_variant,,ENST00000468831,;							MODERATE	796/1278	Q266K	TANK_HUMAN			Transcript		benign(0.097)	.	ENSP00000259075		CCDS2215.1			1	
ASXL1	0	LGGM	GRCh37	20	31021622	31021622	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	5	.	.	ENST00000375687.4:c.1621C>A	p.Arg541=	p.R541=	ENST00000375687	NM_015338.5	541	Cgg/Agg	0	1	1	UPI000036702C	0		ENST00000375687		ENSG00000171456	18318		83			HGNC	p.R536R		ASXL1		SNV			1				ENST00000306058	protein_coding			hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		R		A		2045/7031							YES	ASXL1,synonymous_variant,p.=,ENST00000375687,NM_015338.5;ASXL1,synonymous_variant,p.=,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000470145,;ASXL1,downstream_gene_variant,,ENST00000555564,;							LOW	1621/4626		ASXL1_HUMAN			Transcript			.	ENSP00000364839		CCDS13201.1			1	
CHAC2	0	LGGM	GRCh37	2	54001310	54001310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	93	5	.	.	ENST00000295304.4:c.203C>A	p.Pro68Gln	p.P68Q	ENST00000295304	NM_001008708.2	68	cCa/cAa	0	1	1	UPI000003616C	0	NA	ENST00000295304		ENSG00000143942	32363		98	2.4		HGNC	p.P68Q		CHAC2		SNV							ENST00000295304	protein_coding	getma.org/?cm=var&var=hg19,2,54001310,C,A&fts=all		Gene3D:3.10.490.10,Pfam_domain:PF04752,hmmpanther:PTHR12192,hmmpanther:PTHR12192:SF7,Superfamily_domains:SSF110857		P/Q		A	medium	298/1321		getma.org/?cm=msa&ty=f&p=CHAC2_HUMAN&rb=1&re=174&var=P68Q	deleterious(0.05)				YES	CHAC2,missense_variant,p.Pro68Gln,ENST00000295304,NM_001008708.2;GPR75-ASB3,intron_variant,,ENST00000263634,NM_016115.4;GPR75-ASB3,intron_variant,,ENST00000406687,NM_001201965.1;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;GPR75-ASB3,intron_variant,,ENST00000394717,NM_145863.2;ASB3,intron_variant,,ENST00000498475,;GPR75-ASB3,intron_variant,,ENST00000470916,;ASB3,intron_variant,,ENST00000459916,;GPR75-ASB3,intron_variant,,ENST00000414369,;							MODERATE	203/555	P68Q	CHAC2_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000295304		CCDS33196.1			1	
GATM	0	LGGM	GRCh37	15	45658382	45658382	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	5	.	.	ENST00000396659.3:c.840G>T	p.Trp280Cys	p.W280C	ENST00000396659	NM_001482.2	280	tgG/tgT	0	1	1	UPI0000111EFD	0	getma.org/pdb.php?prot=GATM_HUMAN&from=246&to=414&var=W280C	ENST00000396659		ENSG00000171766	4175		48	3.37		HGNC	p.W280C		GATM		SNV			1				ENST00000558336	protein_coding	getma.org/?cm=var&var=hg19,15,45658382,C,A&fts=all		hmmpanther:PTHR10488,Gene3D:3.75.10.10,Pfam_domain:PF02274,Superfamily_domains:SSF55909		W/C		A	medium	1180/2597		getma.org/?cm=msa&ty=f&p=GATM_HUMAN&rb=246&re=414&var=W280C	deleterious(0)	H0YN43_HUMAN,H0YLC6_HUMAN,H0YKW9_HUMAN			YES	GATM,missense_variant,p.Trp280Cys,ENST00000396659,NM_001482.2;GATM,missense_variant,p.Trp280Cys,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,;							MODERATE	840/1272	W280C	GATM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379895		CCDS10122.1			1	
NOX4	0	LGGM	GRCh37	11	89070623	89070623	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	45	5	.	.	ENST00000263317.4:c.1507G>T	p.Gly503Trp	p.G503W	ENST00000263317		503	Ggg/Tgg	0	1	1	UPI000045655B	0	getma.org/pdb.php?prot=NOX4_HUMAN&from=423&to=561&var=G503W	ENST00000263317		ENSG00000086991	7891		50	1.87		HGNC	p.G479W		NOX4		SNV							ENST00000424319	protein_coding	getma.org/?cm=var&var=hg19,11,89070623,C,A&fts=all		hmmpanther:PTHR11972,Pfam_domain:PF08030,Gene3D:3.40.50.80,Superfamily_domains:SSF52343		G/W		A	low	1746/2388		getma.org/?cm=msa&ty=f&p=NOX4_HUMAN&rb=423&re=561&var=G503W	deleterious(0)	E7EMD7_HUMAN			YES	NOX4,missense_variant,p.Gly479Trp,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,missense_variant,p.Gly479Trp,ENST00000424319,;NOX4,missense_variant,p.Gly479Trp,ENST00000343727,;NOX4,missense_variant,p.Gly479Trp,ENST00000542487,NM_001143837.1;NOX4,missense_variant,p.Gly503Trp,ENST00000263317,;NOX4,missense_variant,p.Gly479Trp,ENST00000527956,;NOX4,missense_variant,p.Gly463Trp,ENST00000534731,;NOX4,missense_variant,p.Gly439Trp,ENST00000532825,;NOX4,missense_variant,p.Gly478Trp,ENST00000528341,;NOX4,missense_variant,p.Gly524Trp,ENST00000413594,;NOX4,missense_variant,p.Gly316Trp,ENST00000527626,;NOX4,missense_variant,p.Gly267Trp,ENST00000525196,;NOX4,missense_variant,p.Gly196Trp,ENST00000375979,;NOX4,missense_variant,p.Gly156Trp,ENST00000531342,;NOX4,3_prime_UTR_variant,,ENST00000529343,;NOX4,upstream_gene_variant,,ENST00000524473,;							MODERATE	1507/1737	G503W	NOX4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000263317		CCDS8285.1			1	
DNAJB11	0	LGGM	GRCh37	3	186299238	186299238	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	53	5	.	.	ENST00000439351.1:c.535C>A	p.Gln179Lys	p.Q179K	ENST00000439351		179	Cag/Aag	0	1		UPI0000001BF7	0	getma.org/pdb.php?prot=DJB11_HUMAN&from=88&to=256&var=Q179K	ENST00000265028		ENSG00000090520	14889		58	2.975		HGNC	p.Q179K		DNAJB11		SNV							ENST00000439351	protein_coding	getma.org/?cm=var&var=hg19,3,186299238,C,A&fts=all		hmmpanther:PTHR24077:SF210,hmmpanther:PTHR24077		Q/K		A	medium	755/1688		getma.org/?cm=msa&ty=f&p=DJB11_HUMAN&rb=88&re=256&var=Q179K	deleterious(0.02)	B3KW63_HUMAN				DNAJB11,missense_variant,p.Gln179Lys,ENST00000439351,;DNAJB11,missense_variant,p.Gln179Lys,ENST00000265028,NM_016306.4;DNAJB11,upstream_gene_variant,,ENST00000418776,;DNAJB11,non_coding_transcript_exon_variant,,ENST00000495390,;DNAJB11,downstream_gene_variant,,ENST00000464877,;							MODERATE	535/1077	Q179K	DJB11_HUMAN			Transcript		possibly_damaging(0.63)	.	ENSP00000265028		CCDS3277.1			1	
ZZEF1	0	LGGM	GRCh37	17	4009070	4009070	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	5	.	.	ENST00000381638.2:c.1311C>A	p.Leu437=	p.L437=	ENST00000381638	NM_015113.3	437	ctC/ctA	0	1	1	UPI00004569F7	0		ENST00000381638		ENSG00000074755	29027		64			HGNC	p.L437L		ZZEF1		SNV							ENST00000381638	protein_coding			hmmpanther:PTHR22772,hmmpanther:PTHR22772:SF3		L		T		1436/11456							YES	ZZEF1,synonymous_variant,p.=,ENST00000381638,NM_015113.3;ZZEF1,non_coding_transcript_exon_variant,,ENST00000574474,;							LOW	1311/8886		ZZEF1_HUMAN			Transcript			.	ENSP00000371051		CCDS11043.1			1	
NDUFS1	0	LGGM	GRCh37	2	207011636	207011636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	5	.	.	ENST00000455934.2:c.770G>T	p.Trp257Leu	p.W257L	ENST00000455934	NM_001199984.1	257	tGg/tTg	0	1		UPI00000702AF	0	getma.org/pdb.php?prot=NDUS1_HUMAN&from=154&to=300&var=W243L	ENST00000233190		ENSG00000023228	7707		48	4.375		HGNC	p.W257L		NDUFS1		SNV			1				ENST00000455934	protein_coding	getma.org/?cm=var&var=hg19,2,207011636,C,A&fts=all		hmmpanther:PTHR11615,hmmpanther:PTHR11615:SF115,TIGRFAM_domain:TIGR01973,Superfamily_domains:SSF53706		W/L		A	high	995/11819		getma.org/?cm=msa&ty=f&p=NDUS1_HUMAN&rb=154&re=300&var=W243L	deleterious(0)	E5KRK5_HUMAN,Q9P1A0_HUMAN,C9JPQ5_HUMAN,B4DJ81_HUMAN				NDUFS1,missense_variant,p.Trp243Leu,ENST00000233190,NM_005006.6;NDUFS1,missense_variant,p.Trp186Leu,ENST00000423725,NM_001199983.1;NDUFS1,missense_variant,p.Trp207Leu,ENST00000440274,NM_001199981.1;NDUFS1,missense_variant,p.Trp257Leu,ENST00000455934,NM_001199984.1;NDUFS1,missense_variant,p.Trp243Leu,ENST00000449699,;NDUFS1,missense_variant,p.Trp127Leu,ENST00000457011,;NDUFS1,missense_variant,p.Trp132Leu,ENST00000432169,NM_001199982.1;NDUFS1,downstream_gene_variant,,ENST00000454195,;NDUFS1,downstream_gene_variant,,ENST00000456284,;							MODERATE	728/2184	W243L	NDUS1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000233190		CCDS2366.1			1	
GUCA1A	0	LGGM	GRCh37	6	42141439	42141439	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	5	.	.	ENST00000394237.1:c.88C>A	p.Pro30Thr	p.P30T	ENST00000394237		30	Ccc/Acc	0	1		UPI0000001C22	0	getma.org/pdb.php?prot=GUC1A_HUMAN&from=14&to=49&var=P30T	ENST00000053469		ENSG00000048545	4678		57	3.395		HGNC	p.P30T		GUCA1A		SNV			1				ENST00000541991	protein_coding	getma.org/?cm=var&var=hg19,6,42141439,C,A&fts=all		hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF13,Gene3D:1.10.238.10,Superfamily_domains:SSF47473,Prints_domain:PR00450		P/T		A	medium	703/1874		getma.org/?cm=msa&ty=f&p=GUC1A_HUMAN&rb=14&re=49&var=P30T	deleterious(0)	A6PVH5_HUMAN				GUCA1A,missense_variant,p.Pro30Thr,ENST00000394237,;GUCA1A,missense_variant,p.Pro30Thr,ENST00000053469,NM_000409.3;GUCA1A,missense_variant,p.Pro30Thr,ENST00000372958,;GUCA1A,missense_variant,p.Pro30Thr,ENST00000541991,;GUCA1A,missense_variant,p.Pro30Thr,ENST00000418175,;							MODERATE	88/606	P30T	GUC1A_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000053469		CCDS4864.1			1	
PDCD11	0	LGGM	GRCh37	10	105158211	105158211	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	80	5	.	.	ENST00000369797.3:c.28C>A	p.Arg10=	p.R10=	ENST00000369797	NM_014976.1	10	Cga/Aga	0	1	1	UPI00001C1ED1	0		ENST00000369797		ENSG00000148843	13408		85			HGNC	p.R10R		PDCD11		SNV							ENST00000369797	protein_coding			hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5		R		A		122/6453							YES	PDCD11,synonymous_variant,p.=,ENST00000369797,NM_014976.1;USMG5,upstream_gene_variant,,ENST00000369825,;USMG5,upstream_gene_variant,,ENST00000369811,;USMG5,upstream_gene_variant,,ENST00000369815,NM_001206427.1;USMG5,upstream_gene_variant,,ENST00000337003,NM_032747.3;USMG5,upstream_gene_variant,,ENST00000309579,NM_001206426.1;MIR1307,upstream_gene_variant,,ENST00000408840,;PDCD11,synonymous_variant,p.=,ENST00000493610,;PDCD11,upstream_gene_variant,,ENST00000471061,;							LOW	28/5616		RRP5_HUMAN			Transcript			.	ENSP00000358812		CCDS31276.1			1	
OR9A2	0	LGGM	GRCh37	7	142724102	142724102	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000350513.2:c.118G>T	p.Gly40Ter	p.G40*	ENST00000350513	NM_001001658.1	40	Gga/Tga	0	1	1	UPI0000041C18	0	NA	ENST00000350513		ENSG00000179468	15093		52	0		HGNC	p.G40X		OR9A2		SNV							ENST00000350513	protein_coding	getma.org/?cm=var&var=hg19,7,142724102,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF126,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/*		A	NA	181/1038		NA		A4D2H9_HUMAN			YES	OR9A2,stop_gained,p.Gly40Ter,ENST00000350513,NM_001001658.1;							HIGH	118/933	G40*	OR9A2_HUMAN			Transcript			.	ENSP00000316518		CCDS34767.1			1	
PIWIL3	0	LGGM	GRCh37	22	25119097	25119097	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	5	.	.	ENST00000332271.5:c.2384G>T	p.Trp795Leu	p.W795L	ENST00000332271	NM_001255975.1	795	tGg/tTg	0	1	1	UPI00002073D6	0	getma.org/pdb.php?prot=PIWL3_HUMAN&from=578&to=868&var=W795L	ENST00000332271		ENSG00000184571	18443		61	1.84		HGNC	p.W795L		PIWIL3		SNV							ENST00000332271	protein_coding	getma.org/?cm=var&var=hg19,22,25119097,C,A&fts=all		PROSITE_profiles:PS50822,hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098		W/L		A	low	2801/3504		getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=578&re=868&var=W795L	deleterious(0.03)				YES	PIWIL3,missense_variant,p.Trp795Leu,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,missense_variant,p.Trp677Leu,ENST00000533313,;PIWIL3,missense_variant,p.Trp677Leu,ENST00000527701,;PIWIL3,splice_region_variant,,ENST00000532537,;							MODERATE	2384/2649	W795L	PIWL3_HUMAN			Transcript		benign(0.066)	.	ENSP00000330031		CCDS33623.1			1	
USP9X	0	LGGM	GRCh37	X	41010251	41010251	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000324545.8:c.1704C>A	p.Pro568=	p.P568=	ENST00000324545	NM_001039590.2	568	ccC/ccA	0	1	1	UPI00001AF419	0		ENST00000324545		ENSG00000124486	12632		62			HGNC	p.P568P		USP9X		SNV			1				ENST00000324545	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359		P		A		2337/12401							YES	USP9X,synonymous_variant,p.=,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,synonymous_variant,p.=,ENST00000378308,;							LOW	1704/7713		USP9X_HUMAN			Transcript			.	ENSP00000316357		CCDS43930.1			1	
CSNK1E	0	LGGM	GRCh37	22	38695901	38695901	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	5	.	.	ENST00000396832.1:c.735C>A	p.Pro245=	p.P245=	ENST00000396832	NM_152221.2	245	ccC/ccA	0	1		UPI000012DC67	0		ENST00000359867		ENSG00000213923	2453		57			HGNC	p.P245P		CSNK1E		SNV							ENST00000405675	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF74,hmmpanther:PTHR11909,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		P		T		846/2642				Q5U045_HUMAN,B0QY36_HUMAN				CSNK1E,splice_region_variant,p.=,ENST00000396832,NM_152221.2;CSNK1E,splice_region_variant,p.=,ENST00000359867,NM_001894.4;CSNK1E,splice_region_variant,p.=,ENST00000400206,;CSNK1E,splice_region_variant,p.=,ENST00000405675,;CSNK1E,splice_region_variant,p.=,ENST00000413574,;CSNK1E,splice_region_variant,p.=,ENST00000403904,;CSNK1E,splice_region_variant,p.=,ENST00000451964,;CSNK1E,downstream_gene_variant,,ENST00000430335,;CSNK1E,upstream_gene_variant,,ENST00000431632,;CSNK1E,splice_region_variant,,ENST00000498529,;CSNK1E,missense_variant,p.Pro71His,ENST00000431611,;CSNK1E,missense_variant,p.Pro44His,ENST00000442216,;CSNK1E,splice_region_variant,,ENST00000467976,;							LOW	735/1251		KC1E_HUMAN			Transcript			.	ENSP00000352929		CCDS13970.1			1	
SYNCRIP	0	LGGM	GRCh37	6	86332372	86332372	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	5	.	.	ENST00000369622.3:c.836C>A	p.Pro279Gln	p.P279Q	ENST00000369622	NM_001159675.1	279	cCg/cAg	0	1	1	UPI000013CF84	0	getma.org/pdb.php?prot=HNRPQ_HUMAN&from=245&to=312&var=P279Q	ENST00000369622		ENSG00000135316	16918		95	2.67		HGNC	p.P279Q		SYNCRIP		SNV							ENST00000369622	protein_coding	getma.org/?cm=var&var=hg19,6,86332372,G,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF131,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01648		P/Q		T	medium	1337/3023		getma.org/?cm=msa&ty=f&p=HNRPQ_HUMAN&rb=245&re=312&var=P279Q	deleterious(0)	F6UXX1_HUMAN			YES	SYNCRIP,missense_variant,p.Pro279Gln,ENST00000355238,NM_001159677.1,NM_001253771.1,NM_001159676.1,NM_001159673.1,NM_001159674.1;SYNCRIP,missense_variant,p.Pro279Gln,ENST00000369622,NM_001159675.1,NM_006372.4;							MODERATE	836/1872	P279Q	HNRPQ_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000358635		CCDS5005.1			1	
RRP1B	0	LGGM	GRCh37	21	45094994	45094994	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	52	5	.	.	ENST00000340648.4:c.499C>A	p.His167Asn	p.H167N	ENST00000340648	NM_015056.2	167	Cac/Aac	0	1	1	UPI0000198EE6	0	NA	ENST00000340648		ENSG00000160208	23818		57	3.815		HGNC	p.H167N		RRP1B		SNV							ENST00000340648	protein_coding	getma.org/?cm=var&var=hg19,21,45094994,C,A&fts=all		hmmpanther:PTHR13026,hmmpanther:PTHR13026:SF2,Pfam_domain:PF05997		H/N		A	high	616/5088		getma.org/?cm=msa&ty=f&p=RRP1B_HUMAN&rb=8&re=220&var=H167N	deleterious(0)				YES	RRP1B,missense_variant,p.His167Asn,ENST00000340648,NM_015056.2;							MODERATE	499/2277	H167N	RRP1B_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000339145		CCDS33577.1			1	
PTGS2	0	LGGM	GRCh37	1	186643688	186643688	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000367468.5:c.1612G>T	p.Gly538Ter	p.G538*	ENST00000367468	NM_000963.2	538	Gga/Tga	0	1	1	UPI000000D926	0	NA	ENST00000367468		ENSG00000073756	9605		84	0		HGNC	p.G538X		PTGS2		SNV							ENST00000367468	protein_coding	getma.org/?cm=var&var=hg19,1,186643688,C,A&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF8,Superfamily_domains:SSF48113		G/*		A	NA	1749/4514		NA		D9MWI3_HUMAN			YES	PTGS2,stop_gained,p.Gly538Ter,ENST00000367468,NM_000963.2;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,non_coding_transcript_exon_variant,,ENST00000466691,;PTGS2,downstream_gene_variant,,ENST00000559800,;PTGS2,3_prime_UTR_variant,,ENST00000559627,;							HIGH	1612/1815	G538*	PGH2_HUMAN			Transcript			.	ENSP00000356438		CCDS1371.1			1	
JAG1	0	LGGM	GRCh37	20	10622465	10622465	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000254958.5:c.2648G>T	p.Cys883Phe	p.C883F	ENST00000254958	NM_000214.2	883	tGc/tTc	0	1	1	UPI00000498B5	0	getma.org/pdb.php?prot=JAG1_HUMAN&from=817&to=1016&var=C883F	ENST00000254958		ENSG00000101384	6188		74	3.155		HGNC	p.C883F		JAG1		SNV			1				ENST00000254958	protein_coding	getma.org/?cm=var&var=hg19,20,10622465,C,A&fts=all		hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF212,SMART_domains:SM00214,SMART_domains:SM00215,Superfamily_domains:SSF57603		C/F		A	medium	3164/5987		getma.org/?cm=msa&ty=f&p=JAG1_HUMAN&rb=817&re=1016&var=C883F	deleterious(0.02)	B7U6M8_HUMAN,B4DYR1_HUMAN			YES	JAG1,missense_variant,p.Cys883Phe,ENST00000254958,NM_000214.2;JAG1,missense_variant,p.Cys724Phe,ENST00000423891,;JAG1,downstream_gene_variant,,ENST00000488480,;SLX4IP,downstream_gene_variant,,ENST00000488816,;							MODERATE	2648/3657	C883F	JAG1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000254958		CCDS13112.1			1	
PSMD4	0	LGGM	GRCh37	1	151234734	151234734	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	37	5	.	.	ENST00000368884.3:c.124C>A	p.Arg42Ser	p.R42S	ENST00000368884	NM_002810.2	42	Cgc/Agc	0	1	1	UPI0000038DA5	0	getma.org/pdb.php?prot=PSMD4_HUMAN&from=5&to=184&var=R42S	ENST00000368884		ENSG00000159352	9561		42	1.515		HGNC	p.R42S		PSMD4		SNV							ENST00000368884	protein_coding	getma.org/?cm=var&var=hg19,1,151234734,C,A&fts=all		Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF13519,Gene3D:3.40.50.410,hmmpanther:PTHR10223,PROSITE_profiles:PS50234		R/S		A	low	204/1350		getma.org/?cm=msa&ty=f&p=PSMD4_HUMAN&rb=5&re=184&var=R42S	deleterious(0)	A6PVX3_HUMAN			YES	PSMD4,missense_variant,p.Arg42Ser,ENST00000368884,NM_002810.2;PSMD4,missense_variant,p.Arg42Ser,ENST00000368881,;PSMD4,missense_variant,p.Arg27Ser,ENST00000437736,;PSMD4,upstream_gene_variant,,ENST00000445776,;PSMD4,upstream_gene_variant,,ENST00000453615,;PSMD4,upstream_gene_variant,,ENST00000469786,;PSMD4,non_coding_transcript_exon_variant,,ENST00000476855,;PSMD4,non_coding_transcript_exon_variant,,ENST00000462970,;PSMD4,non_coding_transcript_exon_variant,,ENST00000461434,;PSMD4,upstream_gene_variant,,ENST00000427779,;PSMD4,upstream_gene_variant,,ENST00000491857,;PSMD4,upstream_gene_variant,,ENST00000470396,;							MODERATE	124/1134	R42S	PSMD4_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000357879		CCDS991.1			1	
MTERFD2	0	LGGM	GRCh37	2	242039036	242039036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000391980.2:c.295C>A	p.Leu99Ile	p.L99I	ENST00000391980	NM_182501.3	99	Ctc/Atc	0	1		UPI0000209875	0	getma.org/pdb.php?prot=MTER2_HUMAN&from=69&to=303&var=L99I	ENST00000241527		ENSG00000122085	28785		47	2.24		HGNC	p.L99I		MTERFD2		SNV							ENST00000401626	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,242039036,G,T&fts=all		Pfam_domain:PF02536,hmmpanther:PTHR13068,hmmpanther:PTHR13068:SF11		L/I		T	medium	317/4529		getma.org/?cm=msa&ty=f&p=MTER2_HUMAN&rb=69&re=303&var=L99I	deleterious(0.01)	C9JX74_HUMAN,B4DFP7_HUMAN				MTERFD2,missense_variant,p.Leu99Ile,ENST00000391980,NM_182501.3;MTERFD2,missense_variant,p.Leu99Ile,ENST00000495694,;MTERFD2,missense_variant,p.Leu99Ile,ENST00000407095,;MTERFD2,missense_variant,p.Leu92Ile,ENST00000424798,;MTERFD2,missense_variant,p.Leu99Ile,ENST00000401626,;MTERFD2,missense_variant,p.Leu78Ile,ENST00000434791,;MTERFD2,intron_variant,,ENST00000406593,;MTERFD2,intron_variant,,ENST00000439144,;SNED1,downstream_gene_variant,,ENST00000310397,NM_001080437.1;SNED1,downstream_gene_variant,,ENST00000405547,;MTERFD2,upstream_gene_variant,,ENST00000414146,;MTERFD2,intron_variant,,ENST00000464344,;MTERFD2,intron_variant,,ENST00000455202,;MTERFD2,intron_variant,,ENST00000480298,;MTERFD2,intron_variant,,ENST00000493169,;MTERFD2,upstream_gene_variant,,ENST00000488567,;MTERFD2,missense_variant,p.Leu99Ile,ENST00000241527,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000475860,;MTERFD2,intron_variant,,ENST00000476564,;MTERFD2,intron_variant,,ENST00000460915,;MTERFD2,upstream_gene_variant,,ENST00000496878,;							MODERATE	295/1146	L99I	MTER2_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000241527		CCDS2544.1			1	
NDUFS3	0	LGGM	GRCh37	11	47603652	47603652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	5	.	.	ENST00000263774.4:c.394C>A	p.Leu132Met	p.L132M	ENST00000263774	NM_004551.2	132	Ctg/Atg	0	1	1	UPI0000130930	0	getma.org/pdb.php?prot=NDUS3_HUMAN&from=95&to=200&var=L132M	ENST00000263774		ENSG00000213619	7710		55	3.44		HGNC	p.L132M		NDUFS3		SNV			1				ENST00000263774	protein_coding	getma.org/?cm=var&var=hg19,11,47603652,C,A&fts=all		HAMAP:MF_01357,hmmpanther:PTHR10884,hmmpanther:PTHR10884:SF6,Pfam_domain:PF00329,TIGRFAM_domain:TIGR01961,Superfamily_domains:0052776		L/M		A	medium	476/958		getma.org/?cm=msa&ty=f&p=NDUS3_HUMAN&rb=95&re=200&var=L132M	tolerated(0.08)	Q9UF24_HUMAN			YES	NDUFS3,missense_variant,p.Leu132Met,ENST00000263774,NM_004551.2;KBTBD4,upstream_gene_variant,,ENST00000533290,;KBTBD4,upstream_gene_variant,,ENST00000395288,NM_016506.5;KBTBD4,upstream_gene_variant,,ENST00000526005,;KBTBD4,upstream_gene_variant,,ENST00000430070,NM_018095.4;FAM180B,upstream_gene_variant,,ENST00000356737,;FAM180B,upstream_gene_variant,,ENST00000538490,NM_001164379.1;NDUFS3,downstream_gene_variant,,ENST00000534716,;KBTBD4,upstream_gene_variant,,ENST00000525720,;KBTBD4,upstream_gene_variant,,ENST00000529499,;KBTBD4,upstream_gene_variant,,ENST00000531067,;NDUFS3,downstream_gene_variant,,ENST00000534208,;NDUFS3,downstream_gene_variant,,ENST00000528192,;NDUFS3,downstream_gene_variant,,ENST00000529276,;KBTBD4,downstream_gene_variant,,ENST00000450908,;KBTBD4,upstream_gene_variant,,ENST00000534239,;KBTBD4,upstream_gene_variant,,ENST00000529946,;NDUFS3,downstream_gene_variant,,ENST00000530295,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000533507,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000525212,;NDUFS3,downstream_gene_variant,,ENST00000531351,;NDUFS3,upstream_gene_variant,,ENST00000527178,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000525378,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000524568,;KBTBD4,upstream_gene_variant,,ENST00000530668,;NDUFS3,downstream_gene_variant,,ENST00000533105,;							MODERATE	394/795	L132M	NDUS3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000263774		CCDS7941.1			1	
TTI1	0	LGGM	GRCh37	20	36641937	36641937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	5	.	.	ENST00000373448.2:c.282G>T	p.Gln94His	p.Q94H	ENST00000373448	NM_014657.1	94	caG/caT	0	1		UPI000012DB27	0	NA	ENST00000373447		ENSG00000101407	29029		56	2.015		HGNC	p.Q94H		TTI1		SNV							ENST00000373447	protein_coding	getma.org/?cm=var&var=hg19,20,36641937,C,A&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460		Q/H		A	medium	388/3825		getma.org/?cm=msa&ty=f&p=TTI1_HUMAN&rb=1&re=1068&var=Q94H	tolerated(0.28)	D6W4K3_HUMAN				TTI1,missense_variant,p.Gln94His,ENST00000373448,NM_014657.1;TTI1,missense_variant,p.Gln94His,ENST00000373447,;TTI1,missense_variant,p.Gln94His,ENST00000449821,;TTI1,intron_variant,,ENST00000487362,;							MODERATE	282/3270	Q94H	TTI1_HUMAN			Transcript		benign(0.007)	.	ENSP00000362546		CCDS13300.1			1	
ADAM30	0	LGGM	GRCh37	1	120437208	120437208	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000369400.1:c.1752C>A	p.Leu584=	p.L584=	ENST00000369400	NM_021794.3	584	ctC/ctA	0	1	1	UPI000004C638	0		ENST00000369400		ENSG00000134249	208		74			HGNC	p.L584L		ADAM30		SNV							ENST00000369400	protein_coding			Pfam_domain:PF08516,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF31,SMART_domains:SM00608		L		T		1911/2963							YES	ADAM30,synonymous_variant,p.=,ENST00000369400,NM_021794.3;							LOW	1752/2373		ADA30_HUMAN			Transcript			.	ENSP00000358407		CCDS907.1			1	
C15orf38	0	LGGM	GRCh37	15	90447088	90447088	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	16	5	.	.	ENST00000357484.5:c.429C>A	p.Pro143=	p.P143=	ENST00000357484	NM_182616.2	143	ccC/ccA	0	1	1	UPI0000161A90	0		ENST00000357484		ENSG00000242498	28782		21			HGNC	p.P47P		C15orf38		SNV							ENST00000558648	protein_coding			hmmpanther:PTHR31199:SF1,hmmpanther:PTHR31199,Pfam_domain:PF10574		P		T		550/2670				H0YMP5_HUMAN			YES	C15orf38,synonymous_variant,p.=,ENST00000357484,NM_182616.2,NM_001282380.1;C15orf38-AP3S2,synonymous_variant,p.=,ENST00000398333,NM_001199058.1;C15orf38,synonymous_variant,p.=,ENST00000460685,;C15orf38,synonymous_variant,p.=,ENST00000560096,;C15orf38-AP3S2,synonymous_variant,p.=,ENST00000558648,;C15orf38-AP3S2,intron_variant,,ENST00000559629,;C15orf38-AP3S2,upstream_gene_variant,,ENST00000560224,;							LOW	429/681		ARPIN_HUMAN			Transcript			.	ENSP00000350075		CCDS42080.1			1	
C15orf43	0	LGGM	GRCh37	15	45249163	45249163	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	12	5	.	.	ENST00000340827.3:c.134C>A	p.Pro45Gln	p.P45Q	ENST00000340827	NM_152448.2	45	cCa/cAa	0	1	1	UPI000007232D	0	NA	ENST00000340827		ENSG00000167014	28520		17	0.46		HGNC	p.P45Q		C15orf43		SNV							ENST00000340827	protein_coding	getma.org/?cm=var&var=hg19,15,45249163,C,A&fts=all		Pfam_domain:PF15101		P/Q		A	neutral	151/1281		getma.org/?cm=msa&ty=f&p=CO043_HUMAN&rb=1&re=218&var=P45Q	deleterious(0)				YES	C15orf43,missense_variant,p.Pro45Gln,ENST00000340827,NM_152448.2;C15orf43,3_prime_UTR_variant,,ENST00000559137,;C15orf43,3_prime_UTR_variant,,ENST00000557864,;							MODERATE	134/663	P45Q	CO043_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340644		CCDS10115.1			1	
STAT3	0	LGGM	GRCh37	17	40489513	40489513	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000264657.5:c.737G>T	p.Arg246Leu	p.R246L	ENST00000264657	NM_139276.2	246	cGg/cTg	0	1	1	UPI0000031047	0	getma.org/pdb.php?prot=STAT3_HUMAN&from=138&to=319&var=R246L	ENST00000264657		ENSG00000168610	11364		70	2.165		HGNC	p.R246L		STAT3		SNV			1				ENST00000264657	protein_coding	getma.org/?cm=var&var=hg19,17,40489513,C,A&fts=all		hmmpanther:PTHR11801:SF2,hmmpanther:PTHR11801,Pfam_domain:PF01017,Gene3D:1bg1A01,Superfamily_domains:SSF47655		R/L		A	medium	1050/5047		getma.org/?cm=msa&ty=f&p=STAT3_HUMAN&rb=138&re=319&var=R246L	deleterious(0)	G8JLH9_HUMAN			YES	STAT3,missense_variant,p.Arg246Leu,ENST00000264657,NM_139276.2,NM_003150.3;STAT3,missense_variant,p.Arg246Leu,ENST00000585517,NM_213662.1;STAT3,missense_variant,p.Arg246Leu,ENST00000588969,;STAT3,missense_variant,p.Arg246Leu,ENST00000404395,;STAT3,missense_variant,p.Arg148Leu,ENST00000389272,;							MODERATE	737/2313	R246L	STAT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264657		CCDS32656.1			1	
FAM60A	0	LGGM	GRCh37	12	31440644	31440644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	5	.	.	ENST00000337682.4:c.430G>T	p.Gly144Cys	p.G144C	ENST00000337682	NM_001135812.1	144	Ggc/Tgc	0	1	1	UPI00000373C6	0	NA	ENST00000337682		ENSG00000139146	30702		51	1.645		HGNC	p.G144C		FAM60A		SNV							ENST00000337682	protein_coding	getma.org/?cm=var&var=hg19,12,31440644,C,A&fts=all		hmmpanther:PTHR13422,hmmpanther:PTHR13422:SF11,Pfam_domain:PF15396		G/C		A	low	799/3163		getma.org/?cm=msa&ty=f&p=FA60A_HUMAN&rb=1&re=219&var=G144C	deleterious(0.03)	F5H6U2_HUMAN,F5GZ82_HUMAN,B7Z287_HUMAN			YES	FAM60A,missense_variant,p.Gly144Cys,ENST00000337682,NM_001135812.1;FAM60A,missense_variant,p.Gly144Cys,ENST00000454658,;FAM60A,5_prime_UTR_variant,,ENST00000539409,;FAM60A,5_prime_UTR_variant,,ENST00000395766,NM_001135811.1,NM_021238.2;FAM60A,5_prime_UTR_variant,,ENST00000542983,;FAM60A,downstream_gene_variant,,ENST00000543615,;FAM60A,downstream_gene_variant,,ENST00000539004,;FAM60A,3_prime_UTR_variant,,ENST00000544921,;FAM60A,non_coding_transcript_exon_variant,,ENST00000448582,;							MODERATE	430/666	G144C	FA60A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000337477		CCDS8723.1			1	
SLC9B2	0	LGGM	GRCh37	4	103971460	103971460	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	5	.	.	ENST00000394785.3:c.522C>A	p.Ser174=	p.S174=	ENST00000394785	NM_178833.4	174	tcC/tcA	0	1		UPI000020B27F	0		ENST00000362026		ENSG00000164038	25143		66			HGNC	p.S74S		SLC9B2		SNV							ENST00000506288	protein_coding			Pfam_domain:PF00999,hmmpanther:PTHR31102,hmmpanther:PTHR31102:SF6,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		S		T		684/2300				D6RGJ7_HUMAN				SLC9B2,synonymous_variant,p.=,ENST00000394785,NM_178833.4;SLC9B2,synonymous_variant,p.=,ENST00000362026,;SLC9B2,synonymous_variant,p.=,ENST00000339611,;SLC9B2,synonymous_variant,p.=,ENST00000503103,;SLC9B2,synonymous_variant,p.=,ENST00000503230,;SLC9B2,synonymous_variant,p.=,ENST00000506288,;SLC9B2,non_coding_transcript_exon_variant,,ENST00000515424,;							LOW	522/1614		SL9B2_HUMAN			Transcript			.	ENSP00000354574		CCDS3662.1			1	
ABCA1	0	LGGM	GRCh37	9	107562138	107562138	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	5	.	.	ENST00000374736.3:c.4905C>A	p.Pro1635=	p.P1635=	ENST00000374736	NM_005502.3	1635	ccC/ccA	0	1	1	UPI000013E441	0		ENST00000374736		ENSG00000165029	29		56			HGNC	p.P1635P		ABCA1		SNV			1				ENST00000374736	protein_coding			hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		P		T		5300/10494				Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,synonymous_variant,p.=,ENST00000374736,NM_005502.3;							LOW	4905/6786		ABCA1_HUMAN			Transcript			.	ENSP00000363868		CCDS6762.1			1	
PIK3C2A	0	LGGM	GRCh37	11	17172117	17172117	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	5	.	.	ENST00000265970.7:c.1255G>T	p.Gly419Ter	p.G419*	ENST00000265970	NM_002645.2	419	Gga/Tga	0	1	1	UPI000013D6B3	0	NA	ENST00000265970		ENSG00000011405	8971		62	0		HGNC	p.G39X		PIK3C2A		SNV							ENST00000540361	protein_coding	getma.org/?cm=var&var=hg19,11,17172117,C,A&fts=all		Superfamily_domains:SSF54236,SMART_domains:SM00144,Pfam_domain:PF00794,Gene3D:3.10.20.90,hmmpanther:PTHR10048:SF28,hmmpanther:PTHR10048		G/*		A	NA	1255/8227		NA		L7RRS0_HUMAN,F5H2B0_HUMAN,E9PPP3_HUMAN			YES	PIK3C2A,stop_gained,p.Gly419Ter,ENST00000265970,NM_002645.2;PIK3C2A,stop_gained,p.Gly39Ter,ENST00000540361,;PIK3C2A,non_coding_transcript_exon_variant,,ENST00000531428,;PIK3C2A,stop_gained,p.Gly419Ter,ENST00000533645,;							HIGH	1255/5061	G419*	P3C2A_HUMAN			Transcript			.	ENSP00000265970		CCDS7824.1			1	
UNC93A	0	LGGM	GRCh37	6	167728873	167728873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	5	.	.	ENST00000230256.3:c.1307C>A	p.Pro436Gln	p.P436Q	ENST00000230256	NM_018974.3	436	cCg/cAg	0	1	1	UPI0000062351	0	NA	ENST00000230256		ENSG00000112494	12570		87	0.49		HGNC	p.P436Q		UNC93A		SNV							ENST00000230256	protein_coding	getma.org/?cm=var&var=hg19,6,167728873,C,A&fts=all		hmmpanther:PTHR19444,hmmpanther:PTHR19444:SF14		P/Q		A	neutral	1482/2116		getma.org/?cm=msa&ty=f&p=UN93A_HUMAN&rb=369&re=457&var=P436Q	tolerated(0.71)	D6RFH7_HUMAN			YES	UNC93A,missense_variant,p.Pro436Gln,ENST00000230256,NM_018974.3;UNC93A,missense_variant,p.Pro394Gln,ENST00000366829,NM_001143947.1;							MODERATE	1307/1374	P436Q	UN93A_HUMAN			Transcript		benign(0.011)	.	ENSP00000230256		CCDS5300.1			1	
KIF14	0	LGGM	GRCh37	1	200549413	200549413	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000367350.4:c.3434C>A	p.Ser1145Tyr	p.S1145Y	ENST00000367350	NM_014875.2	1145	tCt/tAt	0	1	1	UPI000012DDA3	0	NA	ENST00000367350		ENSG00000118193	19181		73	1.525		HGNC	p.S1145Y		KIF14		SNV							ENST00000367350	protein_coding	getma.org/?cm=var&var=hg19,1,200549413,G,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF128		S/Y		T	low	3873/7274		getma.org/?cm=msa&ty=f&p=KIF14_HUMAN&rb=916&re=1646&var=S1145Y	tolerated(0.25)				YES	KIF14,missense_variant,p.Ser1145Tyr,ENST00000367350,NM_014875.2;							MODERATE	3434/4947	S1145Y	KIF14_HUMAN			Transcript		benign(0.005)	.	ENSP00000356319		CCDS30963.1			1	
DGKG	0	LGGM	GRCh37	3	185993367	185993367	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	5	.	.	ENST00000265022.3:c.879G>T	p.Met293Ile	p.M293I	ENST00000265022	NM_001080744.1	293	atG/atT	0	1	1	UPI000013D5AB	0	getma.org/pdb.php?prot=DGKG_HUMAN&from=272&to=324&var=M293I	ENST00000265022		ENSG00000058866	2853		37	-0.55		HGNC	p.M293I		DGKG		SNV							ENST00000382164	protein_coding	getma.org/?cm=var&var=hg19,3,185993367,C,A&fts=all		PROSITE_profiles:PS50081,hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889		M/I		A	neutral	1419/5805		getma.org/?cm=msa&ty=f&p=DGKG_HUMAN&rb=272&re=324&var=M293I	tolerated(0.37)				YES	DGKG,missense_variant,p.Met293Ile,ENST00000265022,NM_001080744.1,NM_001346.2,NM_001080745.1;DGKG,missense_variant,p.Met293Ile,ENST00000344484,;DGKG,missense_variant,p.Met293Ile,ENST00000544847,;DGKG,missense_variant,p.Met293Ile,ENST00000382164,;DGKG,missense_variant,p.Met44Ile,ENST00000437018,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;DGKG,non_coding_transcript_exon_variant,,ENST00000472506,;DGKG,downstream_gene_variant,,ENST00000482566,;							MODERATE	879/2376	M293I	DGKG_HUMAN			Transcript		benign(0.062)	.	ENSP00000265022		CCDS3274.1			1	
DNAJC5G	0	LGGM	GRCh37	2	27500653	27500653	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000296097.3:c.145G>T	p.Glu49Ter	p.E49*	ENST00000296097	NM_173650.1	49	Gag/Tag	0	1	1	UPI0000070AD2	0	NA	ENST00000296097		ENSG00000163793	24844		52	0		HGNC	p.E49X		DNAJC5G		SNV							ENST00000402462	protein_coding	getma.org/?cm=var&var=hg19,2,27500653,G,T&fts=all		PROSITE_profiles:PS50076,hmmpanther:PTHR24078:SF149,hmmpanther:PTHR24078,Gene3D:1.10.287.110,SMART_domains:SM00271		E/*		T	NA	563/2008		NA					YES	DNAJC5G,stop_gained,p.Glu49Ter,ENST00000296097,NM_173650.1;DNAJC5G,stop_gained,p.Glu49Ter,ENST00000402462,;DNAJC5G,intron_variant,,ENST00000404433,;DNAJC5G,intron_variant,,ENST00000406962,;DNAJC5G,intron_variant,,ENST00000420191,;TRIM54,upstream_gene_variant,,ENST00000296098,NM_032546.3;TRIM54,upstream_gene_variant,,ENST00000380075,NM_187841.2;SLC30A3,upstream_gene_variant,,ENST00000447008,;SLC30A3,upstream_gene_variant,,ENST00000426924,;SLC30A3,upstream_gene_variant,,ENST00000424577,;SLC30A3,upstream_gene_variant,,ENST00000426569,;DNAJC5G,upstream_gene_variant,,ENST00000460358,;							HIGH	145/570	E49*	DNJ5G_HUMAN			Transcript			.	ENSP00000296097		CCDS1744.1			1	
WHSC1	0	LGGM	GRCh37	4	1902385	1902385	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	5	.	.	ENST00000382891.5:c.4G>T	p.Glu2Ter	p.E2*	ENST00000382891	NM_133335.3	2	Gaa/Taa	0	1		UPI0000073F57	0	NA	ENST00000382891		ENSG00000109685	12766		70	0		HGNC	p.E2X		WHSC1		SNV			1				ENST00000512700	protein_coding	getma.org/?cm=var&var=hg19,4,1902385,G,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293		E/*		T	NA	143/7534		NA		D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN				WHSC1,stop_gained,p.Glu2Ter,ENST00000503128,;WHSC1,stop_gained,p.Glu2Ter,ENST00000398261,NM_133334.2;WHSC1,stop_gained,p.Glu2Ter,ENST00000382895,NM_133330.2;WHSC1,stop_gained,p.Glu2Ter,ENST00000382892,NM_133331.2;WHSC1,stop_gained,p.Glu2Ter,ENST00000382891,NM_133335.3;WHSC1,stop_gained,p.Glu2Ter,ENST00000420906,NM_007331.1;WHSC1,stop_gained,p.Glu2Ter,ENST00000508803,NM_001042424.2;WHSC1,stop_gained,p.Glu2Ter,ENST00000514045,;WHSC1,stop_gained,p.Glu2Ter,ENST00000436793,;WHSC1,stop_gained,p.Glu2Ter,ENST00000509115,;WHSC1,stop_gained,p.Glu2Ter,ENST00000515806,;WHSC1,stop_gained,p.Glu2Ter,ENST00000507820,;WHSC1,stop_gained,p.Glu2Ter,ENST00000312087,;WHSC1,stop_gained,p.Glu2Ter,ENST00000353275,;WHSC1,stop_gained,p.Glu2Ter,ENST00000512700,;WHSC1,non_coding_transcript_exon_variant,,ENST00000508355,;							HIGH	Apr-98	E2*	NSD2_HUMAN			Transcript			.	ENSP00000372347		CCDS33940.1			1	
TGM3	0	LGGM	GRCh37	20	2293641	2293641	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	5	.	.	ENST00000381458.5:c.638C>A	p.Pro213His	p.P213H	ENST00000381458	NM_003245.3	213	cCc/cAc	0	1	1	UPI0000136CCC	0	getma.org/pdb.php?prot=TGM3_HUMAN&from=121&to=239&var=P213H	ENST00000381458		ENSG00000125780	11779		49	3.3		HGNC	p.P213H		TGM3		SNV							ENST00000381458	protein_coding	getma.org/?cm=var&var=hg19,20,2293641,C,A&fts=all		hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001		P/H		A	medium	701/2642		getma.org/?cm=msa&ty=f&p=TGM3_HUMAN&rb=121&re=239&var=P213H	deleterious(0)				YES	TGM3,missense_variant,p.Pro213His,ENST00000381458,NM_003245.3;TGM3,non_coding_transcript_exon_variant,,ENST00000463090,;							MODERATE	638/2082	P213H	TGM3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370867		CCDS33435.1			1	
ZNF708	0	LGGM	GRCh37	19	21476354	21476354	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	5	.	.	ENST00000356929.3:c.1414G>T	p.Gly472Ter	p.G472*	ENST00000356929	NM_021269.2	472	Gga/Tga	0	1	1	UPI000041F9DE	0	NA	ENST00000356929		ENSG00000182141	12945		63	0		HGNC	p.G472X		ZNF708		SNV							ENST00000356929	protein_coding	getma.org/?cm=var&var=hg19,19,21476354,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/*		A	NA	1612/4004		NA		M0R1G3_HUMAN,M0QYN4_HUMAN			YES	ZNF708,stop_gained,p.Gly472Ter,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;							HIGH	1414/1692	G472*	ZN708_HUMAN			Transcript			.	ENSP00000349401		CCDS32980.1			1	
WDR7	0	LGGM	GRCh37	18	54358470	54358470	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	5	.	.	ENST00000254442.3:c.741C>A	p.Ser247=	p.S247=	ENST00000254442	NM_015285.2	247	tcC/tcA	0	1	1	UPI000013CE33	0		ENST00000254442		ENSG00000091157	13490		80			HGNC	p.S247S		WDR7		SNV							ENST00000254442	protein_coding			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10,Superfamily_domains:SSF50998		S		A		952/9074				K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN			YES	WDR7,synonymous_variant,p.=,ENST00000254442,NM_015285.2;WDR7,synonymous_variant,p.=,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000589935,;WDR7,upstream_gene_variant,,ENST00000585754,;							LOW	741/4473		WDR7_HUMAN			Transcript			.	ENSP00000254442		CCDS11962.1			1	
KCNH5	0	LGGM	GRCh37	14	63174293	63174293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	5	.	.	ENST00000322893.7:c.2900G>T	p.Cys967Phe	p.C967F	ENST00000322893	NM_139318.4	967	tGt/tTt	0	1	1	UPI0000039E2D	0	NA	ENST00000322893		ENSG00000140015	6254		75	0.69		HGNC	p.C967F		KCNH5		SNV							ENST00000322893	protein_coding	getma.org/?cm=var&var=hg19,14,63174293,C,A&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376		C/F		A	neutral	3169/4175		getma.org/?cm=msa&ty=f&p=KCNH5_HUMAN&rb=856&re=988&var=C967F	tolerated_low_confidence(0.19)				YES	KCNH5,missense_variant,p.Cys967Phe,ENST00000322893,NM_139318.4;KCNH5,3_prime_UTR_variant,,ENST00000420622,NM_172375.2;KCNH5,downstream_gene_variant,,ENST00000394968,;							MODERATE	2900/2967	C967F	KCNH5_HUMAN			Transcript		benign(0.025)	.	ENSP00000321427		CCDS9756.1			1	
CHIA	0	LGGM	GRCh37	1	111854870	111854870	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	5	.	.	ENST00000369740.1:c.114G>T	p.Leu38=	p.L38=	ENST00000369740	NM_001258001.1	38	ctG/ctT	0	1		UPI00000727DC	0		ENST00000343320		ENSG00000134216	17432		41			HGNC	p.L38L		CHIA		SNV							ENST00000343320	protein_coding			Gene3D:3.20.20.80,Pfam_domain:PF00704,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF37,SMART_domains:SM00636,Superfamily_domains:SSF51445		L		T		208/1622				E9PLJ2_HUMAN				CHIA,synonymous_variant,p.=,ENST00000369740,NM_001258001.1,NM_201653.3;CHIA,synonymous_variant,p.=,ENST00000343320,;CHIA,intron_variant,,ENST00000451398,NM_001258004.1;CHIA,intron_variant,,ENST00000422815,NM_021797.3,NM_001258003.1;CHIA,intron_variant,,ENST00000430615,;CHIA,intron_variant,,ENST00000353665,NM_001258005.1;CHIA,intron_variant,,ENST00000483391,NM_001258002.1,NM_001040623.2;CHIA,intron_variant,,ENST00000489524,;CHIA,intron_variant,,ENST00000477918,;CHIA,intron_variant,,ENST00000352594,;							LOW	114/1431		CHIA_HUMAN			Transcript			.	ENSP00000341828		CCDS41368.1			1	
FNIP1	0	LGGM	GRCh37	5	130987582	130987582	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	5	.	.	ENST00000510461.1:c.3219G>T	p.Leu1073Phe	p.L1073F	ENST00000510461	NM_133372.2	1073	ttG/ttT	0	1	1	UPI00001AEE81	0	NA	ENST00000510461		ENSG00000217128	29418		53	2.195		HGNC	p.L1045F		FNIP1		SNV							ENST00000307968	protein_coding	getma.org/?cm=var&var=hg19,5,130987582,C,A&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF12,Pfam_domain:PF14638		L/F		A	medium	3315/3845		getma.org/?cm=msa&ty=f&p=FNIP1_HUMAN&rb=569&re=1164&var=L1073F	deleterious(0.01)	B3KX44_HUMAN			YES	FNIP1,missense_variant,p.Leu1045Phe,ENST00000307968,NM_001008738.2;FNIP1,missense_variant,p.Leu1028Phe,ENST00000307954,;FNIP1,missense_variant,p.Leu1073Phe,ENST00000510461,NM_133372.2;CTC-432M15.3,intron_variant,,ENST00000514667,;							MODERATE	3219/3501	L1073F	FNIP1_HUMAN			Transcript		possibly_damaging(0.856)	.	ENSP00000421985		CCDS34227.1			1	
PTPN4	0	LGGM	GRCh37	2	120620218	120620218	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	5	.	.	ENST00000263708.2:c.245C>A	p.Pro82Gln	p.P82Q	ENST00000263708	NM_002830.3	82	cCa/cAa	0	1	1	UPI0000000CA9	0	getma.org/pdb.php?prot=PTN4_HUMAN&from=33&to=111&var=P82Q	ENST00000263708		ENSG00000088179	9656		92	0.86		HGNC	p.P82Q		PTPN4		SNV							ENST00000488279	protein_coding	getma.org/?cm=var&var=hg19,2,120620218,C,A&fts=all		Gene3D:3.10.20.90,Pfam_domain:PF09379,PIRSF_domain:PIRSF000927,PROSITE_profiles:PS50057,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF187,SMART_domains:SM00295,Superfamily_domains:SSF54236		P/Q		A	low	1016/10300		getma.org/?cm=msa&ty=f&p=PTN4_HUMAN&rb=33&re=111&var=P82Q	tolerated(0.21)	Q580X3_HUMAN,Q53QV5_HUMAN,Q53Q76_HUMAN,Q4ZG31_HUMAN,J3KQP5_HUMAN,F5H1A0_HUMAN			YES	PTPN4,missense_variant,p.Pro82Gln,ENST00000263708,NM_002830.3;PTPN4,missense_variant,p.Pro82Gln,ENST00000488279,;PTPN4,downstream_gene_variant,,ENST00000420482,;PTPN4,splice_region_variant,,ENST00000485247,;PTPN4,splice_region_variant,,ENST00000460289,;							MODERATE	245/2781	P82Q	PTN4_HUMAN			Transcript		benign(0.403)	.	ENSP00000263708		CCDS2129.1			1	
DTL	0	LGGM	GRCh37	1	212245555	212245555	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	5	.	.	ENST00000366991.4:c.1035G>T	p.Lys345Asn	p.K345N	ENST00000366991	NM_016448.2	345	aaG/aaT	0	1	1	UPI000013E1C1	0	NA	ENST00000366991		ENSG00000143476	30288		81	-1.11		HGNC	p.K345N		DTL		SNV							ENST00000366991	protein_coding	getma.org/?cm=var&var=hg19,1,212245555,G,T&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22852,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		K/N		T	neutral	1349/4573		getma.org/?cm=msa&ty=f&p=DTL_HUMAN&rb=305&re=345&var=K345N	tolerated(0.07)				YES	DTL,missense_variant,p.Lys345Asn,ENST00000366991,NM_016448.2;DTL,missense_variant,p.Lys303Asn,ENST00000542077,NM_001286230.1;DTL,splice_region_variant,,ENST00000475419,;DTL,splice_region_variant,,ENST00000489149,;							MODERATE	1035/2193	K345N	DTL_HUMAN			Transcript		benign(0.1)	.	ENSP00000355958		CCDS1502.1			1	
TOPAZ1	0	LGGM	GRCh37	3	44332275	44332275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	5	.	.	ENST00000309765.4:c.3694G>T	p.Gly1232Trp	p.G1232W	ENST00000309765	NM_001145030.1	1232	Ggg/Tgg	0	1	1	UPI000047FF75	0	NA	ENST00000309765		ENSG00000173769	24746		80	0.805		HGNC	p.G1232W		TOPAZ1		SNV							ENST00000309765	protein_coding	getma.org/?cm=var&var=hg19,3,44332275,G,T&fts=all		Pfam_domain:PF14669		G/W		T	low	3862/5334		getma.org/?cm=msa&ty=f&p=TOPZ1_HUMAN&rb=1201&re=1400&var=G1232W	deleterious(0)				YES	TOPAZ1,missense_variant,p.Gly1232Trp,ENST00000309765,NM_001145030.1;							MODERATE	3694/5079	G1232W	TOPZ1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310303		CCDS46809.1			1	
ZRSR1	0	LGGM	GRCh37	5	112227460	112227460	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	5	.	.	ENST00000391338.1:c.124C>A	p.Arg42=	p.R42=	ENST00000391338	NM_001204199.1	42	Cga/Aga	0	1	1	UPI0000137928	0		ENST00000391338		ENSG00000212643	12456		84			HGNC	p.R42R		ZRSR1		SNV							ENST00000391338	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12620,hmmpanther:PTHR12620:SF9,Low_complexity_(Seg):seg		R		A		148/1479							YES	ZRSR1,synonymous_variant,p.=,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,;							LOW	124/1440		U2AFL_HUMAN			Transcript			.	ENSP00000375133					1	
POLR2A	0	LGGM	GRCh37	17	7402453	7402453	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	30	5	.	.	ENST00000322644.6:c.1431C>A	p.Leu477=	p.L477=	ENST00000322644	NM_000937.4	477	ctC/ctA	0	1	1	UPI0000140EB9	0		ENST00000322644		ENSG00000181222	9187		35			HGNC	p.L477L		POLR2A		SNV							ENST00000572844	protein_coding			Gene3D:2.40.40.20,Pfam_domain:PF00623,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,SMART_domains:SM00663,Superfamily_domains:SSF64484		L		A		1830/6749							YES	POLR2A,synonymous_variant,p.=,ENST00000322644,NM_000937.4;POLR2A,synonymous_variant,p.=,ENST00000572844,;POLR2A,non_coding_transcript_exon_variant,,ENST00000575547,;POLR2A,upstream_gene_variant,,ENST00000576718,;POLR2A,downstream_gene_variant,,ENST00000576952,;POLR2A,upstream_gene_variant,,ENST00000574158,;POLR2A,upstream_gene_variant,,ENST00000576114,;							LOW	1431/5913		RPB1_HUMAN			Transcript			.	ENSP00000314949		CCDS32548.1			1	
CPD	0	LGGM	GRCh37	17	28748832	28748832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	5	.	.	ENST00000225719.4:c.1288C>A	p.Leu430Ile	p.L430I	ENST00000225719	NM_001304.4	430	Ctt/Att	0	1	1	UPI000000DAF7	0	getma.org/pdb.php?prot=CBPD_HUMAN&from=383&to=460&var=L430I	ENST00000225719		ENSG00000108582	2301		74	-0.295		HGNC	p.L183I		CPD		SNV							ENST00000543464	protein_coding	getma.org/?cm=var&var=hg19,17,28748832,C,A&fts=all		Gene3D:2.60.40.1120,Pfam_domain:PF13620,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF40,SMART_domains:SM00631,Superfamily_domains:SSF49464		L/I		A	neutral	1364/9394		getma.org/?cm=msa&ty=f&p=CBPD_HUMAN&rb=383&re=460&var=L430I	tolerated(0.82)				YES	CPD,missense_variant,p.Leu430Ile,ENST00000225719,NM_001304.4;CPD,missense_variant,p.Leu183Ile,ENST00000543464,NM_001199775.1;							MODERATE	1288/4143	L430I	CBPD_HUMAN			Transcript		benign(0.006)	.	ENSP00000225719		CCDS11257.1			1	
TIAM2	0	LGGM	GRCh37	6	155503430	155503430	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	5	.	.	ENST00000461783.3:c.2778C>A	p.Pro926=	p.P926=	ENST00000461783		926	ccC/ccA	0	1		UPI00004DF8BE	0		ENST00000318981		ENSG00000146426	11806		53			HGNC	p.P926P		TIAM2		SNV							ENST00000318981	protein_coding			Superfamily_domains:SSF50156,SMART_domains:SM00228,Gene3D:2.30.42.10,Pfam_domain:PF00595,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118,PROSITE_profiles:PS50106		P		A		2986/5916				F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,synonymous_variant,p.=,ENST00000461783,;TIAM2,synonymous_variant,p.=,ENST00000456144,;TIAM2,synonymous_variant,p.=,ENST00000367174,;TIAM2,synonymous_variant,p.=,ENST00000318981,NM_012454.3;TIAM2,synonymous_variant,p.=,ENST00000360366,;TIAM2,synonymous_variant,p.=,ENST00000529824,;TIAM2,synonymous_variant,p.=,ENST00000528535,;TIAM2,synonymous_variant,p.=,ENST00000528391,;TIAM2,synonymous_variant,p.=,ENST00000456877,;TIAM2,upstream_gene_variant,,ENST00000543712,;							LOW	2778/5106		TIAM2_HUMAN			Transcript			.	ENSP00000327315		CCDS34558.1			1	
METAP2	0	LGGM	GRCh37	12	95907625	95907625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	5	.	.	ENST00000323666.5:c.1382C>A	p.Thr461Asn	p.T461N	ENST00000323666	NM_006838.3	461	aCc/aAc	0	1	1	UPI000004493E	0	getma.org/pdb.php?prot=AMPM2_HUMAN&from=167&to=466&var=T461N	ENST00000323666		ENSG00000111142	16672		76	4.39		HGNC	p.T425N		METAP2		SNV							ENST00000550777	protein_coding	getma.org/?cm=var&var=hg19,12,95907625,C,A&fts=all		HAMAP:MF_03175,hmmpanther:PTHR10804:SF95,hmmpanther:PTHR10804,TIGRFAM_domain:TIGR00501,Gene3D:3.90.230.10,Pfam_domain:PF00557,Superfamily_domains:SSF55920		T/N		A	high	1611/3601		getma.org/?cm=msa&ty=f&p=AMPM2_HUMAN&rb=167&re=466&var=T461N	deleterious(0)				YES	METAP2,missense_variant,p.Thr461Asn,ENST00000323666,NM_006838.3;METAP2,missense_variant,p.Thr460Asn,ENST00000551840,;METAP2,missense_variant,p.Thr438Asn,ENST00000546753,;METAP2,missense_variant,p.Thr438Asn,ENST00000261220,;METAP2,missense_variant,p.Thr425Asn,ENST00000550777,;USP44,downstream_gene_variant,,ENST00000258499,NM_032147.3;USP44,downstream_gene_variant,,ENST00000393091,NM_001042403.2;USP44,downstream_gene_variant,,ENST00000537435,NM_001278393.1;USP44,downstream_gene_variant,,ENST00000552440,;METAP2,3_prime_UTR_variant,,ENST00000535095,;							MODERATE	1382/1437	T461N	MAP2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000325312		CCDS9052.1			1	
CDC25B	0	LGGM	GRCh37	20	3781967	3781967	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	5	.	.	ENST00000245960.5:c.772C>A	p.Leu258Met	p.L258M	ENST00000245960	NM_021873.2	258	Ctg/Atg	0	1	1	UPI000012F474	0	NA	ENST00000245960		ENSG00000101224	1726		68	2.16		HGNC	p.L217M		CDC25B		SNV							ENST00000340833	protein_coding	getma.org/?cm=var&var=hg19,20,3781967,C,A&fts=all		hmmpanther:PTHR10828:SF46,hmmpanther:PTHR10828,Pfam_domain:PF06617		L/M		A	medium	1469/3594		getma.org/?cm=msa&ty=f&p=MPIP2_HUMAN&rb=113&re=384&var=L258M	deleterious(0.02)	D3DVY6_HUMAN,B3KS38_HUMAN			YES	CDC25B,missense_variant,p.Leu258Met,ENST00000245960,NM_021873.2,NM_004358.3,NM_021872.2,NM_001287520.1,NM_001287519.1;CDC25B,missense_variant,p.Leu244Met,ENST00000439880,NM_001287519.1;CDC25B,missense_variant,p.Leu194Met,ENST00000344256,;CDC25B,missense_variant,p.Leu217Met,ENST00000340833,;CDC25B,missense_variant,p.Leu194Met,ENST00000379598,;CDC25B,non_coding_transcript_exon_variant,,ENST00000467519,;CDC25B,non_coding_transcript_exon_variant,,ENST00000480816,;CDC25B,upstream_gene_variant,,ENST00000468979,;CDC25B,upstream_gene_variant,,ENST00000495915,;							MODERATE	772/1743	L258M	MPIP2_HUMAN			Transcript		benign(0.394)	.	ENSP00000245960		CCDS13067.1			1	
ARFGAP2	0	LGGM	GRCh37	11	47187893	47187893	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000524782.1:c.1471C>A	p.Gln491Lys	p.Q491K	ENST00000524782	NM_032389.4	491	Cag/Aag	0	1	1	UPI000006F4C6	0	NA	ENST00000524782		ENSG00000149182	13504		47	2.465		HGNC	p.Q384K		ARFGAP2		SNV							ENST00000419701	protein_coding	getma.org/?cm=var&var=hg19,11,47187893,G,T&fts=all		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF194		Q/K		T	medium	1700/2976		getma.org/?cm=msa&ty=f&p=ARFG2_HUMAN&rb=362&re=519&var=Q491K	deleterious(0)	B7Z9M7_HUMAN			YES	ARFGAP2,missense_variant,p.Gln491Lys,ENST00000524782,NM_032389.4,NM_001242832.1;ARFGAP2,missense_variant,p.Gln355Lys,ENST00000426335,;ARFGAP2,missense_variant,p.Gln384Lys,ENST00000419701,;ARFGAP2,missense_variant,p.Gln222Lys,ENST00000319543,;ARFGAP2,missense_variant,p.Gln213Lys,ENST00000527776,;C11orf49,downstream_gene_variant,,ENST00000395460,NM_001003676.2;C11orf49,downstream_gene_variant,,ENST00000378615,;C11orf49,downstream_gene_variant,,ENST00000278460,NM_024113.4,NM_001278222.1,NM_001003677.2;C11orf49,downstream_gene_variant,,ENST00000536126,;C11orf49,downstream_gene_variant,,ENST00000378618,NM_001003678.2;C11orf49,downstream_gene_variant,,ENST00000543718,;ARFGAP2,downstream_gene_variant,,ENST00000527927,;ARFGAP2,downstream_gene_variant,,ENST00000526342,;RP11-390K5.6,downstream_gene_variant,,ENST00000524412,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000395449,;C11orf49,downstream_gene_variant,,ENST00000534581,;ARFGAP2,3_prime_UTR_variant,,ENST00000533243,;C11orf49,downstream_gene_variant,,ENST00000528488,;C11orf49,downstream_gene_variant,,ENST00000525895,;C11orf49,downstream_gene_variant,,ENST00000527784,;ARFGAP2,downstream_gene_variant,,ENST00000532478,;ARFGAP2,downstream_gene_variant,,ENST00000529455,;ARFGAP2,downstream_gene_variant,,ENST00000532438,;ARFGAP2,downstream_gene_variant,,ENST00000525635,;							MODERATE	1471/1566	Q491K	ARFG2_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000434442		CCDS7926.1			1	
C17orf85	0	LGGM	GRCh37	17	3721716	3721716	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	47	5	.	.	ENST00000389005.4:c.1151G>T	p.Arg384Leu	p.R384L	ENST00000389005	NM_001114118.2	384	cGg/cTg	0	1	1	UPI00004DDA14	0	NA	ENST00000389005		ENSG00000074356	24612		52	0.975		HGNC	p.R104L		C17orf85		SNV							ENST00000158149	protein_coding	getma.org/?cm=var&var=hg19,17,3721716,C,A&fts=all		hmmpanther:PTHR16291,hmmpanther:PTHR16291:SF0,Low_complexity_(Seg):seg		R/L		A	low	1179/2788		getma.org/?cm=msa&ty=f&p=CQ085_HUMAN&rb=379&re=578&var=R384L	deleterious_low_confidence(0.01)				YES	C17orf85,missense_variant,p.Arg104Leu,ENST00000158149,;C17orf85,missense_variant,p.Arg384Leu,ENST00000389005,NM_001114118.2;C17orf85,downstream_gene_variant,,ENST00000577169,;C17orf85,3_prime_UTR_variant,,ENST00000574911,;C17orf85,non_coding_transcript_exon_variant,,ENST00000575815,;C17orf85,non_coding_transcript_exon_variant,,ENST00000574379,;							MODERATE	1151/1863	R384L	CQ085_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000373657		CCDS45578.1			1	
EDRF1	0	LGGM	GRCh37	10	127438133	127438133	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	5	.	.	ENST00000356792.4:c.3276C>A	p.Thr1092=	p.T1092=	ENST00000356792	NM_001202438.1	1092	acC/acA	0	1	1	UPI00005CA2E3	0		ENST00000356792		ENSG00000107938	24640		34			HGNC	p.T1058T		EDRF1		SNV							ENST00000337623	protein_coding			hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000		T		A		3508/4128							YES	EDRF1,splice_region_variant,p.=,ENST00000337623,NM_015608.2;EDRF1,splice_region_variant,p.=,ENST00000356792,NM_001202438.1;EDRF1-AS1,intron_variant,,ENST00000601363,;EDRF1-AS1,intron_variant,,ENST00000593871,;EDRF1-AS1,intron_variant,,ENST00000602030,;EDRF1-AS1,intron_variant,,ENST00000449436,;EDRF1-AS1,intron_variant,,ENST00000600784,;EDRF1-AS1,intron_variant,,ENST00000594025,;EDRF1,splice_region_variant,,ENST00000419769,;EDRF1,splice_region_variant,,ENST00000481600,;EDRF1,splice_region_variant,,ENST00000368815,;EDRF1,splice_region_variant,,ENST00000368812,;EDRF1,splice_region_variant,,ENST00000527655,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525524,;EDRF1,downstream_gene_variant,,ENST00000525091,;EDRF1,downstream_gene_variant,,ENST00000469725,;EDRF1,upstream_gene_variant,,ENST00000525358,;							LOW	3276/3717		EDRF1_HUMAN			Transcript			.	ENSP00000349244		CCDS55733.1			1	
NPHP3	0	LGGM	GRCh37	3	132432090	132432090	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	5	.	.	ENST00000337331.5:c.998G>T	p.Gly333Val	p.G333V	ENST00000337331	NM_153240.4	333	gGa/gTa	0	1	1	UPI00001B6B30	0	NA	ENST00000337331		ENSG00000113971	7907		71	2.095		HGNC	p.G333V		NPHP3		SNV			1				ENST00000471702	protein_coding	getma.org/?cm=var&var=hg19,3,132432090,C,A&fts=all		hmmpanther:PTHR19959:SF133,hmmpanther:PTHR19959		G/V		A	medium	1085/4362		getma.org/?cm=msa&ty=f&p=NPHP3_HUMAN&rb=201&re=400&var=G333V	deleterious(0)				YES	NPHP3,missense_variant,p.Gly333Val,ENST00000326682,;NPHP3,missense_variant,p.Gly333Val,ENST00000337331,NM_153240.4;NPHP3,downstream_gene_variant,,ENST00000343113,;NPHP3,non_coding_transcript_exon_variant,,ENST00000476742,;NPHP3,downstream_gene_variant,,ENST00000471145,;NPHP3,missense_variant,p.Gly333Val,ENST00000471702,;NPHP3,missense_variant,p.Gly235Val,ENST00000465756,;NPHP3,3_prime_UTR_variant,,ENST00000469232,;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,;							MODERATE	998/3993	G333V	NPHP3_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000338766		CCDS3078.1			1	
VPS35	0	LGGM	GRCh37	16	46711242	46711242	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	5	.	.	ENST00000299138.7:c.789G>T	p.Met263Ile	p.M263I	ENST00000299138	NM_018206.4	263	atG/atT	0	1	1	UPI0000138BEF	0	NA	ENST00000299138		ENSG00000069329	13487		73	2.13		HGNC	p.M263I		VPS35		SNV			1				ENST00000299138	protein_coding	getma.org/?cm=var&var=hg19,16,46711242,C,A&fts=all		hmmpanther:PTHR11099,Pfam_domain:PF03635,PIRSF_domain:PIRSF009375,Superfamily_domains:SSF48371		M/I		A	medium	848/6780		getma.org/?cm=msa&ty=f&p=VPS35_HUMAN&rb=14&re=754&var=M263I	deleterious(0.05)				YES	VPS35,missense_variant,p.Met263Ile,ENST00000299138,NM_018206.4;VPS35,non_coding_transcript_exon_variant,,ENST00000568642,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,non_coding_transcript_exon_variant,,ENST00000569950,;VPS35,non_coding_transcript_exon_variant,,ENST00000565228,;VPS35,downstream_gene_variant,,ENST00000563884,;VPS35,downstream_gene_variant,,ENST00000568612,;VPS35,downstream_gene_variant,,ENST00000561713,;VPS35,downstream_gene_variant,,ENST00000568191,;							MODERATE	789/2391	M263I	VPS35_HUMAN			Transcript		possibly_damaging(0.708)	.	ENSP00000299138		CCDS10721.1			1	
NAV1	0	LGGM	GRCh37	1	201777857	201777857	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	5	.	.	ENST00000367296.4:c.4065G>T	p.Glu1355Asp	p.E1355D	ENST00000367296	NM_020443.4	1355	gaG/gaT	0	1	1	UPI00004562D4	0	NA	ENST00000367296		ENSG00000134369	15989		47	1.755		HGNC	p.E1352D		NAV1		SNV							ENST00000295624	protein_coding	getma.org/?cm=var&var=hg19,1,201777857,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3		E/D		T	low	4485/13091		getma.org/?cm=msa&ty=f&p=NAV1_HUMAN&rb=1&re=1436&var=E1355D	deleterious(0)				YES	NAV1,missense_variant,p.Glu1355Asp,ENST00000367296,NM_020443.4;NAV1,missense_variant,p.Glu1352Asp,ENST00000295624,;NAV1,missense_variant,p.Glu1347Asp,ENST00000367297,;NAV1,missense_variant,p.Glu1295Asp,ENST00000367300,;NAV1,missense_variant,p.Glu961Asp,ENST00000367295,NM_001167738.1;NAV1,missense_variant,p.Glu1308Asp,ENST00000367302,;NAV1,downstream_gene_variant,,ENST00000438083,;MIR1231,downstream_gene_variant,,ENST00000408101,;IPO9-AS1,intron_variant,,ENST00000413035,;							MODERATE	4065/5634	E1355D	NAV1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000356265		CCDS1414.2			1	
KIAA0232	0	LGGM	GRCh37	4	6865810	6865810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	5	.	.	ENST00000307659.5:c.3701C>A	p.Ala1234Glu	p.A1234E	ENST00000307659	NM_014743.2	1234	gCa/gAa	0	1	1	UPI000013EC3F	0	NA	ENST00000307659		ENSG00000170871	28992		66	-0.205		HGNC	p.A1234E		KIAA0232		SNV							ENST00000307659	protein_coding	getma.org/?cm=var&var=hg19,4,6865810,C,A&fts=all		Pfam_domain:PF15376,hmmpanther:PTHR17611		A/E		A	neutral	4156/7841		getma.org/?cm=msa&ty=f&p=K0232_HUMAN&rb=1102&re=1310&var=A1234E	tolerated_low_confidence(0.39)	D6REK0_HUMAN			YES	KIAA0232,missense_variant,p.Ala1234Glu,ENST00000307659,NM_014743.2;KIAA0232,missense_variant,p.Ala1234Glu,ENST00000425103,NM_001100590.1;KIAA0232,downstream_gene_variant,,ENST00000503069,;							MODERATE	3701/4188	A1234E	K0232_HUMAN			Transcript		benign(0.011)	.	ENSP00000303928		CCDS43209.1			1	
CADPS2	0	LGGM	GRCh37	7	122131475	122131475	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	6	.	.	ENST00000449022.2:c.1543-1G>T		p.X515_splice	ENST00000449022	NM_017954.10			0	1	1	UPI0000668808	0		ENST00000449022		ENSG00000081803	16018		68			HGNC	-		CADPS2		SNV							ENST00000313070	protein_coding							A		-/4073				B3KNS2_HUMAN			YES	CADPS2,splice_acceptor_variant,,ENST00000334010,NM_001167940.1;CADPS2,splice_acceptor_variant,,ENST00000313070,;CADPS2,splice_acceptor_variant,,ENST00000412584,NM_001009571.3;CADPS2,splice_acceptor_variant,,ENST00000449022,NM_017954.10;CADPS2,splice_acceptor_variant,,ENST00000397721,;CADPS2,splice_acceptor_variant,,ENST00000476131,;							HIGH	1543/3891		CAPS2_HUMAN			Transcript			.	ENSP00000398481		CCDS55158.1			1	
TAGAP	0	LGGM	GRCh37	6	159464688	159464688	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	6	.	.	ENST00000367066.3:c.82-1G>T		p.X28_splice	ENST00000367066	NM_054114.4			0	1	1	UPI0000071CD5	0		ENST00000367066		ENSG00000164691	15669		75			HGNC	-		TAGAP		SNV							ENST00000367066	protein_coding							A		-/3887							YES	TAGAP,splice_acceptor_variant,,ENST00000367066,NM_054114.4,NM_001278733.1;TAGAP,splice_acceptor_variant,,ENST00000326965,NM_152133.2;TAGAP,splice_acceptor_variant,,ENST00000338313,NM_138810.3;RP1-111C20.4,intron_variant,,ENST00000606470,;RP1-111C20.4,downstream_gene_variant,,ENST00000607391,;RP1-111C20.4,downstream_gene_variant,,ENST00000606466,;RP1-111C20.4,downstream_gene_variant,,ENST00000607796,;							HIGH	82/2196		TAGAP_HUMAN			Transcript			.	ENSP00000356033		CCDS5261.1			1	
FAM65B	0	LGGM	GRCh37	6	24874028	24874028	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	110	6	.	.	ENST00000259698.4:c.102-1G>T		p.X34_splice	ENST00000259698	NM_014722.2			0	1	1	UPI0000EE554D	0		ENST00000259698		ENSG00000111913	13872		116			HGNC	-		FAM65B		SNV			1				ENST00000259698	protein_coding							A		-/5471				H3BP45_HUMAN			YES	FAM65B,splice_acceptor_variant,,ENST00000259698,NM_014722.2;FAM65B,splice_acceptor_variant,,ENST00000538035,NM_001286445.1;FAM65B,splice_acceptor_variant,,ENST00000540914,NM_001286447.1;FAM65B,splice_acceptor_variant,,ENST00000378023,NM_015864.2;FAM65B,splice_acceptor_variant,,ENST00000510784,;							HIGH	102/3207		FA65B_HUMAN			Transcript			.	ENSP00000259698		CCDS47383.1			1	
DACH1	0	LGGM	GRCh37	13	72131190	72131190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	6	.	.	ENST00000305425.4:c.1542G>T	p.Met514Ile	p.M514I	ENST00000305425	NM_080759.4	514	atG/atT	0	1	1	UPI00001FCE9E	0	NA	ENST00000305425		ENSG00000165659	2663		94	0		HGNC	p.M566I		DACH1		SNV							ENST00000359684	protein_coding	getma.org/?cm=var&var=hg19,13,72131190,C,A&fts=all		hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14		M/I		A	neutral	1965/5239		getma.org/?cm=msa&ty=f&p=DACH1_HUMAN&rb=292&re=756&var=M564I					YES	DACH1,missense_variant,p.Met514Ile,ENST00000305425,NM_080759.4;DACH1,missense_variant,p.Met566Ile,ENST00000359684,;DACH1,intron_variant,,ENST00000313174,NM_080760.4;DACH1,intron_variant,,ENST00000354591,NM_004392.5;							MODERATE	1542/2127	M564I	DACH1_HUMAN			Transcript		benign(0.006)	.	ENSP00000304994		CCDS41899.1			1	
LATS1	0	LGGM	GRCh37	6	150004883	150004883	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	6	.	.	ENST00000253339.5:c.1342G>T	p.Gly448Trp	p.G448W	ENST00000253339		448	Ggg/Tgg	0	1		UPI0000073DC2	0	NA	ENST00000253339		ENSG00000131023	6514		98	1.59		HGNC	p.G448W		LATS1		SNV							ENST00000253339	protein_coding	getma.org/?cm=var&var=hg19,6,150004883,C,A&fts=all		hmmpanther:PTHR24356:SF138,hmmpanther:PTHR24356		G/W		A	low	1570/4256		getma.org/?cm=msa&ty=f&p=LATS1_HUMAN&rb=339&re=538&var=G448W	deleterious_low_confidence(0)					LATS1,missense_variant,p.Gly448Trp,ENST00000543571,NM_004690.3;LATS1,missense_variant,p.Gly448Trp,ENST00000253339,;LATS1,missense_variant,p.Gly448Trp,ENST00000392273,NM_001270519.1;LATS1,downstream_gene_variant,,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;							MODERATE	1342/3393	G448W	LATS1_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000253339		CCDS34551.1			1	
SYNM	0	LGGM	GRCh37	15	99670598	99670598	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	6	.	.	ENST00000336292.6:c.2030G>T	p.Gly677Val	p.G677V	ENST00000336292	NM_145728.2	677	gGg/gTg	0	1	1	UPI00001B03B3	0		ENST00000336292		ENSG00000182253	24466		90			HGNC	p.G392V		SYNM		SNV							ENST00000560674	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93		G/V		T		2150/7322			deleterious(0)				YES	SYNM,missense_variant,p.Gly677Val,ENST00000336292,NM_145728.2;SYNM,missense_variant,p.Gly677Val,ENST00000328642,NM_015286.5;SYNM,missense_variant,p.Gly392Val,ENST00000560674,;RP11-6O2.4,splice_region_variant,,ENST00000566974,;SYNM,non_coding_transcript_exon_variant,,ENST00000561323,;SYNM,non_coding_transcript_exon_variant,,ENST00000558420,;SYNM,intron_variant,,ENST00000561306,;							MODERATE	2030/4695		SYNEM_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000336775					1	
TXN	0	LGGM	GRCh37	9	113007066	113007066	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	6	.	.	ENST00000374517.5:c.247G>T	p.Gly83Ter	p.G83*	ENST00000374517	NM_003329.3	83	Gga/Tga	0	1	1	UPI000011065C	0	NA	ENST00000374517		ENSG00000136810	12435		78	0		HGNC	p.G83X		TXN		SNV							ENST00000374517	protein_coding	getma.org/?cm=var&var=hg19,9,113007066,C,A&fts=all		Superfamily_domains:SSF52833,PIRSF_domain:PIRSF000077,Gene3D:3.40.30.10,Pfam_domain:PF00085,hmmpanther:PTHR10438:SF18,hmmpanther:PTHR10438,PROSITE_profiles:PS51352		G/*		A	NA	452/869		NA		H9ZYJ2_HUMAN			YES	TXN,stop_gained,p.Gly83Ter,ENST00000374517,NM_003329.3;TXN,stop_gained,p.Gly63Ter,ENST00000374515,NM_001244938.1;TXN,non_coding_transcript_exon_variant,,ENST00000487892,;							HIGH	247/318	G83*	THIO_HUMAN			Transcript			.	ENSP00000363641		CCDS35103.1			1	
SMYD3	0	LGGM	GRCh37	1	246498751	246498751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	6	.	.	ENST00000388985.4:c.254G>T	p.Arg85Leu	p.R85L	ENST00000388985		85	cGg/cTg	0	1		UPI000007078E	0	getma.org/pdb.php?prot=SMYD3_HUMAN&from=49&to=87&var=R85L	ENST00000490107		ENSG00000185420	15513		102	0.225		HGNC	p.R85L		SMYD3		SNV							ENST00000388985	protein_coding	getma.org/?cm=var&var=hg19,1,246498751,C,A&fts=all		Pfam_domain:PF01753,PROSITE_profiles:PS50865,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF146,Superfamily_domains:SSF82199		R/L		A	neutral	294/1548		getma.org/?cm=msa&ty=f&p=SMYD3_HUMAN&rb=49&re=87&var=R85L	deleterious(0.04)	B3KN46_HUMAN,B0QZA0_HUMAN,B0QZ99_HUMAN,A8MXR1_HUMAN				SMYD3,missense_variant,p.Arg26Leu,ENST00000490107,NM_001167740.1;SMYD3,missense_variant,p.Arg26Leu,ENST00000541742,NM_022743.2;SMYD3,missense_variant,p.Arg85Leu,ENST00000388985,;SMYD3,missense_variant,p.Arg85Leu,ENST00000403792,;SMYD3,missense_variant,p.Arg26Leu,ENST00000455277,;SMYD3,missense_variant,p.Arg26Leu,ENST00000453676,;SMYD3,non_coding_transcript_exon_variant,,ENST00000470863,;SMYD3,non_coding_transcript_exon_variant,,ENST00000462422,;							MODERATE	77/1110	R85L	SMYD3_HUMAN			Transcript		benign(0.07)	.	ENSP00000419184		CCDS31083.1			1	
RMDN1	0	LGGM	GRCh37	8	87498840	87498840	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	6	.	.	ENST00000406452.3:c.368G>T	p.Arg123Leu	p.R123L	ENST00000406452	NM_016033.2	123	cGg/cTg	0	1	1	UPI0000073168	0	NA	ENST00000406452		ENSG00000176623	24285		70	3.365		HGNC	p.R79L	COSM606613	RMDN1		SNV						1	ENST00000521045	protein_coding	getma.org/?cm=var&var=hg19,8,87498840,C,A&fts=all		Gene3D:1.25.40.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR16056		R/L		A	medium	528/3063		getma.org/?cm=msa&ty=f&p=RMD1_HUMAN&rb=1&re=200&var=R123L	deleterious(0)	E5RGC8_HUMAN			YES	RMDN1,missense_variant,p.Arg123Leu,ENST00000406452,NM_016033.2;RMDN1,missense_variant,p.Arg123Leu,ENST00000519966,NM_001286707.1;RMDN1,missense_variant,p.Arg123Leu,ENST00000430676,NM_001286719.1;RMDN1,missense_variant,p.Arg79Leu,ENST00000523911,;RMDN1,missense_variant,p.Arg69Leu,ENST00000519789,;RMDN1,missense_variant,p.Arg79Leu,ENST00000521045,;CPNE3,intron_variant,,ENST00000198765,;RMDN1,upstream_gene_variant,,ENST00000519639,;RMDN1,upstream_gene_variant,,ENST00000520719,;RMDN1,3_prime_UTR_variant,,ENST00000522804,;RMDN1,3_prime_UTR_variant,,ENST00000524172,;RMDN1,3_prime_UTR_variant,,ENST00000523370,;RMDN1,non_coding_transcript_exon_variant,,ENST00000518390,;RMDN1,upstream_gene_variant,,ENST00000519145,;NTAN1P2,upstream_gene_variant,,ENST00000515730,;					1		MODERATE	368/945	R123L	RMD1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000385927		CCDS34918.1			1	
REL	0	LGGM	GRCh37	2	61145656	61145656	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	6	.	.	ENST00000295025.8:c.768C>A	p.Pro256=	p.P256=	ENST00000295025	NM_002908.2	256	ccC/ccA	0	1	1	UPI000013367B	0		ENST00000295025		ENSG00000162924	9954		98			HGNC	p.P256P		REL		SNV							ENST00000295025	protein_coding			Gene3D:2.60.40.10,hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF4,SMART_domains:SM00429,Superfamily_domains:SSF81296		P		A		1088/11255							YES	REL,synonymous_variant,p.=,ENST00000295025,NM_002908.2;REL,synonymous_variant,p.=,ENST00000394479,;							LOW	768/1860		REL_HUMAN			Transcript			.	ENSP00000295025		CCDS1864.1			1	
NLRP11	0	LGGM	GRCh37	19	56307504	56307504	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000443188.1:c.2284G>T	p.Gly762Trp	p.G762W	ENST00000443188	NM_145007.3	762	Ggg/Tgg	0	1		UPI000013ED9D	0	getma.org/pdb.php?prot=NAL11_HUMAN&from=717&to=916&var=G762W	ENST00000589093		ENSG00000179873	22945		92	3.95		HGNC	p.G708W		NLRP11		SNV							ENST00000360133	protein_coding	getma.org/?cm=var&var=hg19,19,56307504,C,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF62,SMART_domains:SM00368,Superfamily_domains:SSF52047		G/W		A	high	2378/3417		getma.org/?cm=msa&ty=f&p=NAL11_HUMAN&rb=717&re=916&var=G762W	deleterious(0)	K7ESF9_HUMAN				NLRP11,missense_variant,p.Gly762Trp,ENST00000443188,NM_145007.3;NLRP11,missense_variant,p.Gly708Trp,ENST00000360133,;NLRP11,missense_variant,p.Gly762Trp,ENST00000589093,;NLRP11,missense_variant,p.Gly708Trp,ENST00000589824,;NLRP11,missense_variant,p.Gly663Trp,ENST00000592953,;NLRP11,3_prime_UTR_variant,,ENST00000590409,;NLRP11,3_prime_UTR_variant,,ENST00000593244,;							MODERATE	2284/3102	G762W	NAL11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000466285		CCDS12935.1			1	
MTR	0	LGGM	GRCh37	1	237054522	237054522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	6	.	.	ENST00000366577.5:c.3097G>T	p.Gly1033Trp	p.G1033W	ENST00000366577	NM_000254.2	1033	Ggg/Tgg	0	1	1	UPI0000036BC4	0	getma.org/pdb.php?prot=METH_HUMAN&from=923&to=1265&var=G1033W	ENST00000366577		ENSG00000116984	7468		63	3.315		HGNC	p.G982W		MTR		SNV			1				ENST00000535889	protein_coding	getma.org/?cm=var&var=hg19,1,237054522,G,T&fts=all		Superfamily_domains:SSF56507,PIRSF_domain:PIRSF000381,Gene3D:2o2kA01,TIGRFAM_domain:TIGR02082,Pfam_domain:PF02965,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS50974		G/W		T	medium	3491/10529		getma.org/?cm=msa&ty=f&p=METH_HUMAN&rb=923&re=1265&var=G1033W	deleterious(0)				YES	MTR,missense_variant,p.Gly1033Trp,ENST00000366577,NM_000254.2;MTR,missense_variant,p.Gly587Trp,ENST00000366576,;MTR,missense_variant,p.Gly982Trp,ENST00000535889,;MTR,upstream_gene_variant,,ENST00000470570,;							MODERATE	3097/3798	G1033W	METH_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355536		CCDS1614.1			1	
PCSK5	0	LGGM	GRCh37	9	78848417	78848417	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	6	.	.	ENST00000545128.1:c.2771G>T	p.Trp924Leu	p.W924L	ENST00000545128	NM_001190482.1	924	tGg/tTg	0	1	1	UPI0001DAD817	0	NA	ENST00000545128		ENSG00000099139	8747		88	0.14		HGNC	p.W597L		PCSK5		SNV							ENST00000424854	protein_coding	getma.org/?cm=var&var=hg19,9,78848417,G,T&fts=all		Gene3D:2.10.220.10,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00261,Superfamily_domains:SSF57184		W/L		T	neutral	3309/9538		getma.org/?cm=msa&ty=f&p=PCSK5_HUMAN&rb=912&re=1111&var=W924L	deleterious(0.01)	I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Trp924Leu,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Trp597Leu,ENST00000424854,;							MODERATE	2771/5583	W924L	PCSK5_HUMAN			Transcript		benign(0.018)	.	ENSP00000446280		CCDS55320.1			1	
MYO18B	0	LGGM	GRCh37	22	26422472	26422472	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	113	6	.	.	ENST00000335473.7:c.6532C>A	p.Arg2178=	p.R2178=	ENST00000335473	NM_032608.5	2178	Cgg/Agg	0	1		UPI0000207402	0		ENST00000536101		ENSG00000133454	18150		119			HGNC	p.R2179R		MYO18B		SNV							ENST00000407587	protein_coding			hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254		R		A		6791/8051				Q8N903_HUMAN				MYO18B,synonymous_variant,p.=,ENST00000335473,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,synonymous_variant,p.=,ENST00000543971,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;MYO18B,upstream_gene_variant,,ENST00000540454,;							LOW	6532/7704					Transcript			.	ENSP00000441229		CCDS54507.1			1	
SPTBN5	0	LGGM	GRCh37	15	42159747	42159747	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	89	6	.	.	ENST00000320955.6:c.6301C>A	p.Gln2101Lys	p.Q2101K	ENST00000320955	NM_016642.3	2101	Cag/Aag	0	1	1	UPI0000E59BE4	0	getma.org/pdb.php?prot=SPTN5_HUMAN&from=2049&to=2147&var=Q2101K	ENST00000320955		ENSG00000137877	15680		95	3.035		HGNC	p.Q2101K		SPTBN5		SNV							ENST00000320955	protein_coding	getma.org/?cm=var&var=hg19,15,42159747,G,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		Q/K		T	medium	6529/11722		getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=2049&re=2147&var=Q2101K					YES	SPTBN5,missense_variant,p.Gln2101Lys,ENST00000320955,NM_016642.3;MIR4310,upstream_gene_variant,,ENST00000582950,;							MODERATE	6301/11025	Q2101K	SPTN5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000317790		CCDS61599.1			1	
HIST1H2BD	0	LGGM	GRCh37	6	26158730	26158730	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	54	6	.	.	ENST00000289316.2:c.333C>A	p.Ala111=	p.A111=	ENST00000289316	NM_138720.2	111	gcC/gcA	0	1	1	UPI0000001BD3	0		ENST00000289316		ENSG00000158373	4747		60			HGNC	p.A111A		HIST1H2BD		SNV							ENST00000289316	protein_coding			Prints_domain:PR00621,Superfamily_domains:SSF47113,SMART_domains:SM00427,PROSITE_patterns:PS00357,Gene3D:1.10.20.10,hmmpanther:PTHR23428		A		A		357/789							YES	HIST1H2BD,synonymous_variant,p.=,ENST00000289316,NM_138720.2;HIST1H2BD,synonymous_variant,p.=,ENST00000377777,NM_021063.3;HIST1H1E,downstream_gene_variant,,ENST00000304218,NM_005321.2;							LOW	333/381		H2B1D_HUMAN			Transcript			.	ENSP00000289316		CCDS4587.1			1	
USPL1	0	LGGM	GRCh37	13	31205373	31205373	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	62	6	.	.	ENST00000255304.4:c.630G>T	p.Leu210=	p.L210=	ENST00000255304	NM_005800.4	210	ctG/ctT	0	1	1	UPI000013CEA3	0		ENST00000255304		ENSG00000132952	20294		68			HGNC	p.L210L		USPL1		SNV							ENST00000255304	protein_coding			hmmpanther:PTHR15294		L		T		972/3814							YES	USPL1,synonymous_variant,p.=,ENST00000255304,NM_005800.4;USPL1,non_coding_transcript_exon_variant,,ENST00000465952,;							LOW	630/3279		USPL1_HUMAN			Transcript			.	ENSP00000255304		CCDS9336.1			1	
MTUS1	0	LGGM	GRCh37	8	17612683	17612683	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	6	.	.	ENST00000262102.6:c.634C>A	p.His212Asn	p.H212N	ENST00000262102	NM_001001924.2	212	Cat/Aat	0	1	1	UPI000003FF3C	0	NA	ENST00000262102		ENSG00000129422	29789		66	0.895		HGNC	p.H212N		MTUS1		SNV			1				ENST00000381862	protein_coding	getma.org/?cm=var&var=hg19,8,17612683,G,T&fts=all		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7,Low_complexity_(Seg):seg		H/N		T	low	859/6160		getma.org/?cm=msa&ty=f&p=MTUS1_HUMAN&rb=1&re=809&var=H212N	tolerated(0.13)				YES	MTUS1,missense_variant,p.His212Asn,ENST00000381869,NM_001001925.2;MTUS1,missense_variant,p.His212Asn,ENST00000262102,NM_001001924.2;MTUS1,missense_variant,p.His212Asn,ENST00000519263,;MTUS1,missense_variant,p.His212Asn,ENST00000381862,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;MTUS1,upstream_gene_variant,,ENST00000520196,;							MODERATE	634/3813	H212N	MTUS1_HUMAN			Transcript		benign(0.015)	.	ENSP00000262102		CCDS43717.1			1	
ANO1	0	LGGM	GRCh37	11	69933926	69933926	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	6	.	.	ENST00000355303.5:c.177G>T	p.Arg59=	p.R59=	ENST00000355303	NM_018043.5	59	cgG/cgT	0	1	1	UPI000013CE03	0		ENST00000355303		ENSG00000131620	21625		27			HGNC	p.R59R		ANO1		SNV							ENST00000355303	protein_coding			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13		R		T		482/4790							YES	ANO1,synonymous_variant,p.=,ENST00000355303,NM_018043.5;ANO1,synonymous_variant,p.=,ENST00000538023,;ANO1,synonymous_variant,p.=,ENST00000316296,;ANO1,synonymous_variant,p.=,ENST00000531604,;ANO1,5_prime_UTR_variant,,ENST00000398543,;ANO1,5_prime_UTR_variant,,ENST00000530676,;							LOW	177/2961		ANO1_HUMAN			Transcript			.	ENSP00000347454		CCDS44663.1			1	
ZNF214	0	LGGM	GRCh37	11	7022760	7022760	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	6	.	.	ENST00000278314.4:c.154C>A	p.Gln52Lys	p.Q52K	ENST00000278314	NM_013249.2	52	Caa/Aaa	0	1	1	UPI000013DB6B	0	NA	ENST00000278314		ENSG00000149050	13006		91	0		HGNC	p.Q52K		ZNF214		SNV							ENST00000278314	protein_coding	getma.org/?cm=var&var=hg19,11,7022760,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF54,SMART_domains:SM00349		Q/K		T	neutral	470/2681		getma.org/?cm=msa&ty=f&p=ZN214_HUMAN&rb=44&re=196&var=Q52K	deleterious(0.02)				YES	ZNF214,missense_variant,p.Gln52Lys,ENST00000278314,NM_013249.2;ZNF214,missense_variant,p.Gln52Lys,ENST00000536068,;ZNF214,non_coding_transcript_exon_variant,,ENST00000531083,;							MODERATE	154/1821	Q52K	ZN214_HUMAN			Transcript		benign(0.025)	.	ENSP00000278314		CCDS31418.1			1	
OBSCN	0	LGGM	GRCh37	1	228482542	228482542	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	6	.	.	ENST00000570156.2:c.12744C>A	p.Ala4248=	p.A4248=	ENST00000570156	NM_001271223.2	4248	gcC/gcA	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		98			HGNC	p.A4003A		OBSCN		SNV							ENST00000570156	protein_coding			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		A		A		11501/24030								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,,ENST00000602685,;OBSCN,non_coding_transcript_exon_variant,,ENST00000494839,;							LOW	11457/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
DPP10	0	LGGM	GRCh37	2	116535390	116535390	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	6	.	.	ENST00000393147.2:c.1353C>A	p.Pro451=	p.P451=	ENST00000393147	NM_001178034.1	451	ccC/ccA	0	1		UPI00001AEF55	0		ENST00000410059		ENSG00000175497	20823		93			HGNC	p.P447P		DPP10		SNV			1				ENST00000410059	protein_coding			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171		P		A		1821/6278				Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN				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;							LOW	1341/2391		DPP10_HUMAN			Transcript			.	ENSP00000386565		CCDS46400.1			1	
MICU1	0	LGGM	GRCh37	10	74183034	74183034	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	94	6	.	.	ENST00000361114.5:c.1029C>A	p.Thr343=	p.T343=	ENST00000361114	NM_001195518.1	343	acC/acA	0	1	1	UPI0000035D9A	0		ENST00000361114		ENSG00000107745	1530		100			HGNC	p.T350T		MICU1		SNV			1				ENST00000476605	protein_coding			hmmpanther:PTHR12294:SF1,hmmpanther:PTHR12294		T		T		1126/2383							YES	MICU1,synonymous_variant,p.=,ENST00000398761,;MICU1,synonymous_variant,p.=,ENST00000361114,NM_001195518.1,NM_006077.3;MICU1,synonymous_variant,p.=,ENST00000401998,;MICU1,synonymous_variant,p.=,ENST00000398763,;MICU1,synonymous_variant,p.=,ENST00000418483,NM_001195519.1;MICU1,synonymous_variant,p.=,ENST00000489666,;MICU1,synonymous_variant,p.=,ENST00000476605,;							LOW	1029/1431		MICU1_HUMAN			Transcript			.	ENSP00000354415		CCDS55715.1			1	
FKBP3	0	LGGM	GRCh37	14	45590788	45590788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	6	.	.	ENST00000216330.3:c.354G>T	p.Lys118Asn	p.K118N	ENST00000216330		118	aaG/aaT	0	1	1	UPI000012A815	0	NA	ENST00000216330		ENSG00000100442	3719		65	2.05		HGNC	p.K118N		FKBP3		SNV							ENST00000216330	protein_coding	getma.org/?cm=var&var=hg19,14,45590788,C,A&fts=all		hmmpanther:PTHR10516,Gene3D:3.10.50.40,Superfamily_domains:SSF54534		K/N		A	medium	765/1684		getma.org/?cm=msa&ty=f&p=FKBP3_HUMAN&rb=1&re=120&var=K118N	deleterious(0.02)				YES	FKBP3,missense_variant,p.Lys118Asn,ENST00000216330,;FKBP3,missense_variant,p.Lys118Asn,ENST00000396062,NM_002013.3;FKBP3,3_prime_UTR_variant,,ENST00000557324,;FKBP3,downstream_gene_variant,,ENST00000556231,;							MODERATE	354/675	K118N	FKBP3_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000216330		CCDS9683.1			1	
OR5AR1	0	LGGM	GRCh37	11	56431185	56431185	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	6	.	.	ENST00000302969.2:c.24G>T	p.Met8Ile	p.M8I	ENST00000302969	NM_001004730.1	8	atG/atT	0	1	1	UPI0000041C93	0	NA	ENST00000302969		ENSG00000172459	15260		73	-0.81		HGNC	p.M8I		OR5AR1		SNV							ENST00000302969	protein_coding	getma.org/?cm=var&var=hg19,11,56431185,G,T&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF54,Superfamily_domains:SSF81321		M/I		T	neutral	48/1026		getma.org/?cm=msa&ty=f&p=O5AR1_HUMAN&rb=1&re=138&var=M8I	tolerated(0.3)	B9EIN0_HUMAN			YES	OR5AR1,missense_variant,p.Met8Ile,ENST00000302969,NM_001004730.1;							MODERATE	24/933	M8I	O5AR1_HUMAN			Transcript		benign(0)	.	ENSP00000302639		CCDS31535.1			1	
ABCD2	0	LGGM	GRCh37	12	39994461	39994461	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	98	6	.	.	ENST00000308666.3:c.1558C>A	p.Leu520Ile	p.L520I	ENST00000308666	NM_005164.3	520	Ctc/Atc	0	1	1	UPI000004C4C6	0	getma.org/pdb.php?prot=ABCD2_HUMAN&from=518&to=637&var=L520I	ENST00000308666		ENSG00000173208	66		104	1.275		HGNC	p.L520I		ABCD2		SNV							ENST00000308666	protein_coding	getma.org/?cm=var&var=hg19,12,39994461,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,SMART_domains:SM00382,Superfamily_domains:SSF52540		L/I		T	low	1694/6238		getma.org/?cm=msa&ty=f&p=ABCD2_HUMAN&rb=518&re=637&var=L520I	deleterious(0)				YES	ABCD2,missense_variant,p.Leu520Ile,ENST00000308666,NM_005164.3;							MODERATE	1558/2223	L520I	ABCD2_HUMAN			Transcript		benign(0.317)	.	ENSP00000310688		CCDS8734.1			1	
MYO3A	0	LGGM	GRCh37	10	26432505	26432505	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	6	.	.	ENST00000265944.5:c.2391C>A	p.Pro797=	p.P797=	ENST00000265944	NM_017433.4	797	ccC/ccA	0	1	1	UPI000014140A	0		ENST00000265944		ENSG00000095777	7601		70			HGNC	p.P797P		MYO3A		SNV			1				ENST00000265944	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		P		A		2557/5581							YES	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;							LOW	2391/4851		MYO3A_HUMAN			Transcript			.	ENSP00000265944		CCDS7148.1			1	
SP140L	0	LGGM	GRCh37	2	231264939	231264939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	6	.	.	ENST00000415673.2:c.1295C>A	p.Pro432Gln	p.P432Q	ENST00000415673	NM_138402.4	432	cCa/cAa	0	1	1	UPI000020974D	0	getma.org/pdb.php?prot=LY10L_HUMAN&from=375&to=574&var=P432Q	ENST00000415673		ENSG00000185404	25105		63	2.935		HGNC	p.P397Q		SP140L		SNV							ENST00000396563	protein_coding	getma.org/?cm=var&var=hg19,2,231264939,C,A&fts=all		PROSITE_profiles:PS50016,hmmpanther:PTHR13711:SF156,hmmpanther:PTHR13711,PROSITE_patterns:PS01359,Gene3D:3.30.40.10,Pfam_domain:PF00628,SMART_domains:SM00249,Superfamily_domains:SSF57903		P/Q		A	medium	1381/2665		getma.org/?cm=msa&ty=f&p=LY10L_HUMAN&rb=375&re=574&var=P432Q	deleterious(0.04)				YES	SP140L,missense_variant,p.Pro432Gln,ENST00000243810,;SP140L,missense_variant,p.Pro397Gln,ENST00000396563,;SP140L,missense_variant,p.Pro432Gln,ENST00000415673,NM_138402.4;SP140L,missense_variant,p.Pro432Gln,ENST00000444636,;SP140L,non_coding_transcript_exon_variant,,ENST00000483728,;SP140L,non_coding_transcript_exon_variant,,ENST00000496870,;SP140L,non_coding_transcript_exon_variant,,ENST00000466656,;SP140L,upstream_gene_variant,,ENST00000497212,;							MODERATE	1295/1743	P432Q	SP14L_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000397911		CCDS46538.1			1	
KALRN	0	LGGM	GRCh37	3	124048716	124048716	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	6	.	.	ENST00000240874.3:c.1287G>T	p.Ser429=	p.S429=	ENST00000240874	NM_003947.4	429	tcG/tcT	0	1	1	UPI000012C095	0		ENST00000240874		ENSG00000160145	4814		48			HGNC	p.S429S	rs149268642	KALRN		SNV	A:0		1				ENST00000360013	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00150		S	A:0.0001	T		1444/6537	1.51E-05						YES	KALRN,synonymous_variant,p.=,ENST00000360013,NM_001024660.3;KALRN,synonymous_variant,p.=,ENST00000354186,;KALRN,synonymous_variant,p.=,ENST00000240874,NM_003947.4;KALRN,synonymous_variant,p.=,ENST00000460856,;KALRN,upstream_gene_variant,,ENST00000439170,;KALRN,downstream_gene_variant,,ENST00000498499,;							LOW	1287/4992		KALRN_HUMAN			Transcript			.	ENSP00000240874	8.24E-06	CCDS3027.1			1	
ZNF708	0	LGGM	GRCh37	19	21476774	21476774	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	6	.	.	ENST00000356929.3:c.994G>T	p.Gly332Cys	p.G332C	ENST00000356929	NM_021269.2	332	Ggt/Tgt	0	1	1	UPI000041F9DE	0	getma.org/pdb.php?prot=ZN708_HUMAN&from=322&to=347&var=G332C	ENST00000356929		ENSG00000182141	12945		94	3.125		HGNC	p.G332C		ZNF708		SNV							ENST00000356929	protein_coding	getma.org/?cm=var&var=hg19,19,21476774,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		G/C		A	medium	1192/4004		getma.org/?cm=msa&ty=f&p=ZN708_HUMAN&rb=302&re=367&var=G332C	deleterious(0)	M0R1G3_HUMAN,M0QYN4_HUMAN			YES	ZNF708,missense_variant,p.Gly332Cys,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;							MODERATE	994/1692	G332C	ZN708_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349401		CCDS32980.1			1	
RPGR	0	LGGM	GRCh37	X	38176684	38176684	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	38	6	.	.	ENST00000378505.2:c.504C>A	p.Ser168=	p.S168=	ENST00000378505	NM_001034853.1	168	tcC/tcA	0	1		UPI0000134632	0		ENST00000339363		ENSG00000156313	10295		44			HGNC	p.S168S		RPGR		SNV			1				ENST00000378505	protein_coding			Gene3D:2.130.10.30,Pfam_domain:PF00415,Prints_domain:PR00633,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF129,Superfamily_domains:SSF50985		S		T		672/3686								RPGR,synonymous_variant,p.=,ENST00000378505,NM_001034853.1;RPGR,synonymous_variant,p.=,ENST00000339363,;RPGR,synonymous_variant,p.=,ENST00000318842,NM_000328.2;RPGR,synonymous_variant,p.=,ENST00000338898,;RPGR,synonymous_variant,p.=,ENST00000309513,;RPGR,synonymous_variant,p.=,ENST00000342811,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,synonymous_variant,p.=,ENST00000482855,;RPGR,synonymous_variant,p.=,ENST00000474584,;RPGR,non_coding_transcript_exon_variant,,ENST00000470183,;							LOW	504/3063		RPGR_HUMAN			Transcript			.	ENSP00000343671					1	
ABCB5	0	LGGM	GRCh37	7	20793067	20793067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	6	.	.	ENST00000404938.2:c.3514C>A	p.Gln1172Lys	p.Q1172K	ENST00000404938	NM_001163941.1	1172	Caa/Aaa	0	1	1	UPI000173A253	0	getma.org/pdb.php?prot=ABCB5_HUMAN&from=612&to=739&var=Q727K	ENST00000404938		ENSG00000004846	46		79	-0.635		HGNC	p.Q1172K		ABCB5		SNV							ENST00000404938	protein_coding	getma.org/?cm=var&var=hg19,7,20793067,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,SMART_domains:SM00382,Superfamily_domains:SSF52540		Q/K		A	neutral	4166/5811		getma.org/?cm=msa&ty=f&p=ABCB5_HUMAN&rb=612&re=739&var=Q727K	deleterious(0)				YES	ABCB5,missense_variant,p.Gln1172Lys,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Gln727Lys,ENST00000258738,NM_178559.5;ABCB5,intron_variant,,ENST00000441315,;							MODERATE	3514/3774	Q727K	ABCB5_HUMAN			Transcript		benign(0.009)	.	ENSP00000384881		CCDS55090.1			1	
TPTE2	0	LGGM	GRCh37	13	20012285	20012285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	93	6	.	.	ENST00000400230.2:c.982G>T	p.Gly328Trp	p.G328W	ENST00000400230		328	Ggg/Tgg	0	1	1	UPI000040738D	0	getma.org/pdb.php?prot=TPTE2_HUMAN&from=252&to=367&var=G328W	ENST00000400230		ENSG00000132958	17299		99	4.38		HGNC	p.G217W		TPTE2		SNV							ENST00000457266	protein_coding	getma.org/?cm=var&var=hg19,13,20012285,C,A&fts=all		PROSITE_profiles:PS51181,hmmpanther:PTHR12305,PROSITE_patterns:PS00383,Gene3D:3.90.190.10,Pfam_domain:PF00782,Superfamily_domains:SSF52799		G/W		A	high	1027/1793		getma.org/?cm=msa&ty=f&p=TPTE2_HUMAN&rb=252&re=367&var=G328W	deleterious(0)				YES	TPTE2,missense_variant,p.Gly328Trp,ENST00000400230,;TPTE2,missense_variant,p.Gly328Trp,ENST00000382977,NM_199254.2;TPTE2,missense_variant,p.Gly288Trp,ENST00000382978,;TPTE2,missense_variant,p.Gly288Trp,ENST00000382975,;TPTE2,missense_variant,p.Gly217Trp,ENST00000400103,NM_001141968.1;TPTE2,missense_variant,p.Gly251Trp,ENST00000255310,;TPTE2,missense_variant,p.Gly251Trp,ENST00000390680,NM_130785.3;TPTE2,missense_variant,p.Gly217Trp,ENST00000457266,;TPTE2,missense_variant,p.Gly197Trp,ENST00000462409,;							MODERATE	982/1569	G328W	TPTE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000383089		CCDS45014.1			1	
FIGF	0	LGGM	GRCh37	X	15376125	15376125	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	6	.	.	ENST00000297904.3:c.492G>T	p.Gln164His	p.Q164H	ENST00000297904	NM_004469.4	164	caG/caT	0	1	1	UPI00000012B2	0	getma.org/pdb.php?prot=VEGFD_HUMAN&from=111&to=191&var=Q164H	ENST00000297904		ENSG00000165197	3708		71	1.535		HGNC	p.Q164H		FIGF		SNV							ENST00000297904	protein_coding	getma.org/?cm=var&var=hg19,X,15376125,C,A&fts=all		Superfamily_domains:SSF57501,SMART_domains:SM00141,Gene3D:2.10.90.10,Pfam_domain:PF00341,hmmpanther:PTHR12025,hmmpanther:PTHR12025:SF11,PROSITE_profiles:PS50278		Q/H		A	low	922/2037		getma.org/?cm=msa&ty=f&p=VEGFD_HUMAN&rb=111&re=191&var=Q164H	deleterious(0)				YES	FIGF,missense_variant,p.Gln164His,ENST00000297904,NM_004469.4;							MODERATE	492/1065	Q164H	VEGFD_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000297904		CCDS14166.1			1	
SHBG	0	LGGM	GRCh37	17	7534951	7534951	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	6	.	.	ENST00000380450.4:c.600G>T	p.Leu200=	p.L200=	ENST00000380450	NM_001040.3	200	ctG/ctT	0	1	1	UPI0000055933	0		ENST00000380450		ENSG00000129214	10839		88			HGNC	p.G170X		SHBG		SNV							ENST00000570353	protein_coding			Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR24040,hmmpanther:PTHR24040:SF2,SMART_domains:SM00282		L		T		631/1265				I3L1C1_HUMAN,I3L145_HUMAN,B0FWH2_HUMAN			YES	SHBG,synonymous_variant,p.=,ENST00000380450,NM_001040.3;SHBG,synonymous_variant,p.=,ENST00000575314,;SHBG,synonymous_variant,p.=,ENST00000416273,NM_001146280.1;SHBG,synonymous_variant,p.=,ENST00000340624,;SHBG,synonymous_variant,p.=,ENST00000572262,;SHBG,synonymous_variant,p.=,ENST00000574539,;SHBG,synonymous_variant,p.=,ENST00000441599,NM_001146281.1;SHBG,synonymous_variant,p.=,ENST00000570547,;SHBG,synonymous_variant,p.=,ENST00000576830,;SHBG,synonymous_variant,p.=,ENST00000576728,;SHBG,synonymous_variant,p.=,ENST00000571153,;SHBG,synonymous_variant,p.=,ENST00000576478,;SHBG,synonymous_variant,p.=,ENST00000576152,;SHBG,intron_variant,,ENST00000575903,NM_001146279.1;SHBG,intron_variant,,ENST00000572182,;SHBG,intron_variant,,ENST00000575618,;SAT2,upstream_gene_variant,,ENST00000269298,NM_133491.3;SAT2,upstream_gene_variant,,ENST00000573566,;SHBG,downstream_gene_variant,,ENST00000575729,;SAT2,upstream_gene_variant,,ENST00000380466,;SAT2,upstream_gene_variant,,ENST00000570850,;SAT2,upstream_gene_variant,,ENST00000576686,;SHBG,stop_gained,p.Gly170Ter,ENST00000570353,;SHBG,3_prime_UTR_variant,,ENST00000570527,;SHBG,non_coding_transcript_exon_variant,,ENST00000576747,;SAT2,upstream_gene_variant,,ENST00000576846,;SAT2,upstream_gene_variant,,ENST00000571074,;SAT2,upstream_gene_variant,,ENST00000575826,;SAT2,upstream_gene_variant,,ENST00000571195,;SAT2,upstream_gene_variant,,ENST00000575114,;SAT2,upstream_gene_variant,,ENST00000570914,;SAT2,upstream_gene_variant,,ENST00000573930,;SAT2,upstream_gene_variant,,ENST00000572224,;SAT2,upstream_gene_variant,,ENST00000576579,;							LOW	600/1209		SHBG_HUMAN			Transcript			.	ENSP00000369816		CCDS11117.1			1	
AQR	0	LGGM	GRCh37	15	35219269	35219269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	6	.	.	ENST00000156471.5:c.1085G>T	p.Arg362Leu	p.R362L	ENST00000156471	NM_014691.2	362	cGg/cTg	0	1	1	UPI00001C1F85	0	NA	ENST00000156471		ENSG00000021776	29513		70	3.555		HGNC	p.R362L		AQR		SNV							ENST00000543879	protein_coding	getma.org/?cm=var&var=hg19,15,35219269,C,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,PIRSF_domain:PIRSF038901		R/L		A	high	1311/5945		getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=1&re=791&var=R362L	deleterious(0)				YES	AQR,missense_variant,p.Arg362Leu,ENST00000156471,NM_014691.2;AQR,missense_variant,p.Arg362Leu,ENST00000543879,;							MODERATE	1085/4458	R362L	AQR_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000156471		CCDS42013.1			1	
C14orf1	0	LGGM	GRCh37	14	76117944	76117944	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	6	.	.	ENST00000256319.6:c.377G>T	p.Arg126Leu	p.R126L	ENST00000256319	NM_007176.3	126	cGg/cTg	0	1	1	UPI0000127BDF	0	NA	ENST00000256319		ENSG00000133935	1187		88	0.55		HGNC	p.R126L		C14orf1		SNV							ENST00000256319	protein_coding	getma.org/?cm=var&var=hg19,14,76117944,C,A&fts=all		hmmpanther:PTHR15451,hmmpanther:PTHR15451:SF19,Transmembrane_helices:TMhelix		R/L		A	neutral	823/2633		getma.org/?cm=msa&ty=f&p=ERG28_HUMAN&rb=87&re=140&var=R126L	tolerated(0.78)	Q86TW5_HUMAN,Q6FII3_HUMAN			YES	C14orf1,missense_variant,p.Arg126Leu,ENST00000256319,NM_007176.3;FLVCR2,intron_variant,,ENST00000553587,;FLVCR2,downstream_gene_variant,,ENST00000238667,NM_017791.2;FLVCR2,downstream_gene_variant,,ENST00000539311,NM_001195283.1;FLVCR2,downstream_gene_variant,,ENST00000556856,;FLVCR2,downstream_gene_variant,,ENST00000555027,;FLVCR2,intron_variant,,ENST00000556241,;TTLL5,intron_variant,,ENST00000556265,;FLVCR2,intron_variant,,ENST00000555385,;TTLL5,intron_variant,,ENST00000554132,;FLVCR2,downstream_gene_variant,,ENST00000554496,;							MODERATE	377/423	R126L	ERG28_HUMAN			Transcript		benign(0.001)	.	ENSP00000256319		CCDS9845.1			1	
CDH19	0	LGGM	GRCh37	18	64172298	64172298	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	102	6	.	.	ENST00000262150.2:c.2070C>A	p.Pro690=	p.P690=	ENST00000262150	NM_021153.3	690	ccC/ccA	0	1	1	UPI0000048ECF	0		ENST00000262150		ENSG00000071991	1758		108			HGNC	p.P690P		CDH19		SNV							ENST00000262150	protein_coding			Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF255		P		T		2363/6341				Q96KY9_HUMAN,J3QS15_HUMAN,F8VVI9_HUMAN			YES	CDH19,synonymous_variant,p.=,ENST00000262150,NM_021153.3;CDH19,3_prime_UTR_variant,,ENST00000540086,NM_001271028.1;CDH19,3_prime_UTR_variant,,ENST00000579658,;							LOW	2070/2319		CAD19_HUMAN			Transcript			.	ENSP00000262150		CCDS11994.1			1	
PGA5	0	LGGM	GRCh37	11	61018675	61018675	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	6	.	.	ENST00000312403.5:c.1089G>T	p.Leu363=	p.L363=	ENST00000312403	NM_014224.2	363	ctG/ctT	0	1	1	UPI000006CE33	0		ENST00000312403		ENSG00000256713	8887		84			HGNC	p.L209L		PGA5		SNV							ENST00000451616	protein_coding			hmmpanther:PTHR13683:SF239,hmmpanther:PTHR13683,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630,Prints_domain:PR00792		L		T		1274/1519				F5GWT0_HUMAN			YES	PGA5,synonymous_variant,p.=,ENST00000312403,NM_014224.2;PGA4,synonymous_variant,p.=,ENST00000422676,;PGA5,synonymous_variant,p.=,ENST00000451616,;PGA5,synonymous_variant,p.=,ENST00000541528,;CTD-2331C18.5,downstream_gene_variant,,ENST00000537594,;							LOW	1089/1167		PEPA5_HUMAN			Transcript			.	ENSP00000309542		CCDS8001.1			1	
SOAT1	0	LGGM	GRCh37	1	179310422	179310422	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	115	6	.	.	ENST00000367619.3:c.757C>A	p.Arg253=	p.R253=	ENST00000367619	NM_003101.5	253	Cgg/Agg	0	1	1	UPI0000071233	0		ENST00000367619		ENSG00000057252	11177		121			HGNC	p.R195R		SOAT1		SNV							ENST00000540564	protein_coding			Pfam_domain:PF03062,PIRSF_domain:PIRSF000439,PIRSF_domain:PIRSF500230,hmmpanther:PTHR10408,hmmpanther:PTHR10408:SF6		R		A		900/6835				B4DFD8_HUMAN,B1APM4_HUMAN			YES	SOAT1,synonymous_variant,p.=,ENST00000367619,NM_003101.5;SOAT1,synonymous_variant,p.=,ENST00000540564,NM_001252511.1;SOAT1,synonymous_variant,p.=,ENST00000539888,NM_001252512.1;SOAT1,synonymous_variant,p.=,ENST00000426956,;SOAT1,5_prime_UTR_variant,,ENST00000535686,;							LOW	757/1653		SOAT1_HUMAN			Transcript			.	ENSP00000356591		CCDS1330.1			1	
MGAT5	0	LGGM	GRCh37	2	135180410	135180410	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	6	.	.	ENST00000409645.1:c.1714G>T	p.Gly572Trp	p.G572W	ENST00000409645		572	Ggg/Tgg	0	1		UPI0000049D8F	0	NA	ENST00000281923		ENSG00000152127	7049		83	2.54		HGNC	p.G572W		MGAT5		SNV							ENST00000409645	protein_coding	getma.org/?cm=var&var=hg19,2,135180410,G,T&fts=all		Pfam_domain:PF15024,hmmpanther:PTHR15075,hmmpanther:PTHR15075:SF3		G/W		T	medium	1859/2421		getma.org/?cm=msa&ty=f&p=MGT5A_HUMAN&rb=1&re=739&var=G572W	deleterious(0)	Q71VM6_HUMAN,Q53SZ9_HUMAN,Q53SV8_HUMAN,Q53SM9_HUMAN				MGAT5,missense_variant,p.Gly572Trp,ENST00000409645,;MGAT5,missense_variant,p.Gly572Trp,ENST00000281923,NM_002410.4;							MODERATE	1714/2226	G572W	MGT5A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000281923		CCDS2171.1			1	
CTTNBP2NL	0	LGGM	GRCh37	1	112999407	112999407	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	101	6	.	.	ENST00000271277.6:c.1293G>T	p.Pro431=	p.P431=	ENST00000271277	NM_018704.2	431	ccG/ccT	0	1	1	UPI000006ED23	0		ENST00000271277		ENSG00000143079	25330		107			HGNC	p.P431P		CTTNBP2NL		SNV							ENST00000271277	protein_coding			hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF9,Low_complexity_(Seg):seg		P		T		1518/5897				B1AMN7_HUMAN			YES	CTTNBP2NL,synonymous_variant,p.=,ENST00000271277,NM_018704.2;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,;CTTNBP2NL,upstream_gene_variant,,ENST00000607039,;							LOW	1293/1920		CT2NL_HUMAN			Transcript			.	ENSP00000271277		CCDS845.1			1	
GABRA5	0	LGGM	GRCh37	15	27193292	27193292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	6	.	.	ENST00000335625.5:c.1301C>A	p.Pro434Gln	p.P434Q	ENST00000335625	NM_000810.3	434	cCa/cAa	0	1	1	UPI000002D731	0	getma.org/pdb.php?prot=GBRA5_HUMAN&from=359&to=445&var=P434Q	ENST00000335625		ENSG00000186297	4079		76	2.95		HGNC	p.P434Q		GABRA5		SNV							ENST00000335625	protein_coding	getma.org/?cm=var&var=hg19,15,27193292,C,A&fts=all		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		P/Q		A	medium	2189/3251		getma.org/?cm=msa&ty=f&p=GBRA5_HUMAN&rb=359&re=445&var=P434Q	deleterious(0)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN			YES	GABRA5,missense_variant,p.Pro434Gln,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Pro434Gln,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Pro434Gln,ENST00000355395,;							MODERATE	1301/1389	P434Q	GBRA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335592		CCDS45194.1			1	
DOCK5	0	LGGM	GRCh37	8	25161834	25161834	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	65	6	.	.	ENST00000276440.7:c.1040C>A	p.Pro347His	p.P347H	ENST00000276440	NM_024940.6	347	cCc/cAc	0	1	1	UPI000022D4F3	0	NA	ENST00000276440		ENSG00000147459	23476		71	2.705		HGNC	p.P347H		DOCK5		SNV							ENST00000481100	protein_coding	getma.org/?cm=var&var=hg19,8,25161834,C,A&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68		P/H		A	medium	1084/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=262&re=437&var=P347H	deleterious(0)				YES	DOCK5,missense_variant,p.Pro347His,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Pro119His,ENST00000444569,;DOCK5,missense_variant,p.Pro347His,ENST00000481100,;DOCK5,downstream_gene_variant,,ENST00000495236,;DOCK5,upstream_gene_variant,,ENST00000478099,;							MODERATE	1040/5613	P347H	DOCK5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276440		CCDS6047.1			1	
ST7L	0	LGGM	GRCh37	1	113084591	113084591	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	6	.	.	ENST00000358039.4:c.1611G>T	p.Met537Ile	p.M537I	ENST00000358039	NM_138727.3	537	atG/atT	0	1	1	UPI000006D137	0	NA	ENST00000358039		ENSG00000007341	18441		78	2.515		HGNC	p.M354I		ST7L		SNV							ENST00000369669	protein_coding	getma.org/?cm=var&var=hg19,1,113084591,C,A&fts=all		Pfam_domain:PF04184,hmmpanther:PTHR12745,hmmpanther:PTHR12745:SF4		M/I		A	medium	1916/4528		getma.org/?cm=msa&ty=f&p=ST7L_HUMAN&rb=38&re=564&var=M537I	deleterious(0.04)				YES	ST7L,missense_variant,p.Met537Ile,ENST00000358039,NM_138727.3,NM_017744.4;ST7L,missense_variant,p.Met506Ile,ENST00000360743,NM_138728.2;ST7L,missense_variant,p.Met537Ile,ENST00000369668,;ST7L,missense_variant,p.Met537Ile,ENST00000343210,NM_138729.3;ST7L,missense_variant,p.Met520Ile,ENST00000369666,;ST7L,missense_variant,p.Met481Ile,ENST00000538187,;ST7L,missense_variant,p.Met472Ile,ENST00000544629,;ST7L,missense_variant,p.Met520Ile,ENST00000490067,;ST7L,missense_variant,p.Met354Ile,ENST00000369669,;ST7L,missense_variant,p.Met281Ile,ENST00000418497,;ST7L,non_coding_transcript_exon_variant,,ENST00000463235,;ST7L,non_coding_transcript_exon_variant,,ENST00000480988,;ST7L,non_coding_transcript_exon_variant,,ENST00000497457,;ST7L,non_coding_transcript_exon_variant,,ENST00000498197,;ST7L,intron_variant,,ENST00000495109,;ST7L,missense_variant,p.Met537Ile,ENST00000490715,;ST7L,missense_variant,p.Met537Ile,ENST00000361846,;							MODERATE	1611/1728	M537I	ST7L_HUMAN			Transcript		benign(0.213)	.	ENSP00000350734		CCDS848.1			1	
ZSCAN31	0	LGGM	GRCh37	6	28294215	28294215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	89	6	.	.	ENST00000414429.1:c.949C>A	p.His317Asn	p.H317N	ENST00000414429		317	Cac/Aac	0	1		UPI000013C358	0	getma.org/pdb.php?prot=ZN323_HUMAN&from=309&to=333&var=H317N	ENST00000344279		ENSG00000235109	14097		95	3.36		HGNC	p.H317N		ZSCAN31		SNV							ENST00000344279	protein_coding	getma.org/?cm=var&var=hg19,6,28294215,G,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF48,PROSITE_profiles:PS50157		H/N		T	medium	1128/2619		getma.org/?cm=msa&ty=f&p=ZN323_HUMAN&rb=289&re=353&var=H317N	deleterious(0)	Q96QL1_HUMAN,C9JUE1_HUMAN,C9JPM5_HUMAN,C9JIC2_HUMAN,C9JHB1_HUMAN,C9JH14_HUMAN,C9JAI0_HUMAN,C9J6S7_HUMAN,C9J423_HUMAN,C9IYT1_HUMAN				ZSCAN31,missense_variant,p.His317Asn,ENST00000414429,;ZSCAN31,missense_variant,p.His317Asn,ENST00000396838,;ZSCAN31,missense_variant,p.His317Asn,ENST00000439158,NM_001135216.1,NM_030899.4;ZSCAN31,missense_variant,p.His317Asn,ENST00000344279,;ZSCAN31,missense_variant,p.His158Asn,ENST00000446474,NM_001243243.1,NM_001243244.1,NM_001243242.1;ZSCAN31,missense_variant,p.His158Asn,ENST00000435857,;ZSCAN31,downstream_gene_variant,,ENST00000453745,;ZSCAN31,downstream_gene_variant,,ENST00000446222,;ZSCAN31,downstream_gene_variant,,ENST00000434036,;ZSCAN31,downstream_gene_variant,,ENST00000439636,;ZSCAN31,downstream_gene_variant,,ENST00000447021,;ZSCAN31,downstream_gene_variant,,ENST00000439628,;ZSCAN31,downstream_gene_variant,,ENST00000426756,;ZSCAN31,downstream_gene_variant,,ENST00000426434,;ZSCAN31,downstream_gene_variant,,ENST00000414431,;ZSCAN31,downstream_gene_variant,,ENST00000444081,;ZSCAN31,non_coding_transcript_exon_variant,,ENST00000481934,;							MODERATE	949/1221	H317N	ZSC31_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000345339		CCDS4649.1			1	
ASB18	0	LGGM	GRCh37	2	237172816	237172816	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	44	6	.	.	ENST00000409749.3:c.173C>A	p.Pro58His	p.P58H	ENST00000409749	NM_212556.2	58	cCc/cAc	0	1	1	UPI00015D60A6	0	NA	ENST00000409749		ENSG00000182177	19770		50	1.87		HGNC	p.P58H		ASB18		SNV							ENST00000430053	protein_coding	getma.org/?cm=var&var=hg19,2,237172816,G,T&fts=all		hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF7		P/H		T	low	173/1401		getma.org/?cm=msa&ty=f&p=ASB18_HUMAN&rb=1&re=68&var=P58H	deleterious(0)				YES	ASB18,missense_variant,p.Pro58His,ENST00000409749,NM_212556.2;ASB18,missense_variant,p.Pro58His,ENST00000430053,;AC079135.1,intron_variant,,ENST00000415226,;ASB18,non_coding_transcript_exon_variant,,ENST00000487961,;							MODERATE	173/1401	P58H	ASB18_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000386532		CCDS46548.1			1	
LHFPL5	0	LGGM	GRCh37	6	35773654	35773654	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	6	.	.	ENST00000360215.1:c.207G>T	p.Val69=	p.V69=	ENST00000360215	NM_182548.3	69	gtG/gtT	0	1	1	UPI000006E12D	0		ENST00000360215		ENSG00000197753	21253		54			HGNC	p.V69V		LHFPL5		SNV			1				ENST00000360215	protein_coding			hmmpanther:PTHR12489:SF18,hmmpanther:PTHR12489,Pfam_domain:PF10242		V		T		584/2147							YES	LHFPL5,synonymous_variant,p.=,ENST00000360215,NM_182548.3;LHFPL5,synonymous_variant,p.=,ENST00000373853,;							LOW	207/660		TMHS_HUMAN			Transcript			.	ENSP00000353346		CCDS4812.1			1	
AUNIP	0	LGGM	GRCh37	1	26161965	26161965	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	81	6	.	.	ENST00000374298.3:c.593G>T	p.Trp198Leu	p.W198L	ENST00000374298	NM_024037.1	198	tGg/tTg	0	1	1	UPI000006D2D0	0	NA	ENST00000374298		ENSG00000127423	28363		87	0		HGNC	p.W198L		AUNIP		SNV							ENST00000538789	protein_coding	getma.org/?cm=var&var=hg19,1,26161965,C,A&fts=all		hmmpanther:PTHR14526,hmmpanther:PTHR14526:SF2,Pfam_domain:PF15334		W/L		A	neutral	648/2116		getma.org/?cm=msa&ty=f&p=CA135_HUMAN&rb=71&re=356&var=W198L	tolerated(0.06)				YES	AUNIP,missense_variant,p.Trp198Leu,ENST00000374298,NM_024037.1;AUNIP,missense_variant,p.Trp198Leu,ENST00000538789,NM_001287490.1;MTFR1L,downstream_gene_variant,,ENST00000466284,;MTFR1L,downstream_gene_variant,,ENST00000374301,NM_019557.5;MTFR1L,downstream_gene_variant,,ENST00000374300,NM_001099626.1;MTFR1L,downstream_gene_variant,,ENST00000374303,NM_001099625.1;MTFR1L,downstream_gene_variant,,ENST00000474295,NM_001099627.1;MTFR1L,downstream_gene_variant,,ENST00000374307,;MTFR1L,downstream_gene_variant,,ENST00000524618,;RP1-317E23.7,upstream_gene_variant,,ENST00000606617,;AUNIP,intron_variant,,ENST00000481602,;MTFR1L,downstream_gene_variant,,ENST00000469815,;MTFR1L,downstream_gene_variant,,ENST00000497956,;							MODERATE	593/1074	W198L	AUNIP_HUMAN			Transcript		benign(0.001)	.	ENSP00000363416		CCDS266.1			1	
BOD1L1	0	LGGM	GRCh37	4	13602302	13602302	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000040738.5:c.6222C>A	p.Ser2074=	p.S2074=	ENST00000040738	NM_148894.2	2074	tcC/tcA	0	1	1	UPI000066D9E3	0		ENST00000040738		ENSG00000038219	31792		92			HGNC	p.S2074S		BOD1L1		SNV							ENST00000040738	protein_coding			hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		S		T		6358/10565							YES	BOD1L1,synonymous_variant,p.=,ENST00000040738,NM_148894.2;							LOW	6222/9156		BD1L1_HUMAN			Transcript			.	ENSP00000040738		CCDS3411.2			1	
PKD1L2	0	LGGM	GRCh37	16	81222535	81222535	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	6	.	.	ENST00000337114.4:c.1740C>A	p.Thr580=	p.T580=	ENST00000337114	NM_001076780.1	580	acC/acA	0	1	1	UPI0000E4C8FA	0		ENST00000337114		ENSG00000166473	21715		84			HGNC	p.T580T		PKD1L2		SNV							ENST00000337114	protein_coding			hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877,PROSITE_profiles:PS51111		T		T		1740/3427				Q6AI51_HUMAN				PKD1L2,synonymous_variant,p.=,ENST00000337114,NM_001076780.1;PKD1L2,synonymous_variant,p.=,ENST00000526632,;PKD1L2,non_coding_transcript_exon_variant,,ENST00000299598,;PKD1L2,synonymous_variant,p.=,ENST00000525539,NM_052892.3;							LOW	1740/2976		PK1L2_HUMAN			Transcript			.	ENSP00000337397					1	
CUL3	0	LGGM	GRCh37	2	225346770	225346770	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	6	.	.	ENST00000264414.4:c.1868C>A	p.Pro623His	p.P623H	ENST00000264414	NM_003590.4	623	cCt/cAt	0	1	1	UPI0000001C83	0	getma.org/pdb.php?prot=CUL3_HUMAN&from=34&to=666&var=P623H	ENST00000264414		ENSG00000036257	2553		75	3.32		HGNC	p.P599H		CUL3		SNV			1				ENST00000409777	protein_coding	getma.org/?cm=var&var=hg19,2,225346770,G,T&fts=all		PROSITE_profiles:PS50069,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.10.10.10,Superfamily_domains:SSF75632		P/H		T	medium	2207/6741		getma.org/?cm=msa&ty=f&p=CUL3_HUMAN&rb=34&re=666&var=P623H	deleterious(0)	Q53S54_HUMAN,Q53RD1_HUMAN			YES	CUL3,missense_variant,p.Pro623His,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Pro557His,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Pro599His,ENST00000409777,;CUL3,missense_variant,p.Pro599His,ENST00000409096,NM_001257198.1;CUL3,intron_variant,,ENST00000451538,;CUL3,non_coding_transcript_exon_variant,,ENST00000536702,;CUL3,intron_variant,,ENST00000454323,;CUL3,upstream_gene_variant,,ENST00000497715,;							MODERATE	1868/2307	P623H	CUL3_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000264414		CCDS2462.1			1	
CD200R1	0	LGGM	GRCh37	3	112648267	112648267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	55	6	.	.	ENST00000308611.3:c.290G>T	p.Trp97Leu	p.W97L	ENST00000308611	NM_138806.3	97	tGg/tTg	0	1		UPI000013ED7A	0	NA	ENST00000471858		ENSG00000163606	24235		61	2.56		HGNC	p.W74L		CD200R1		SNV							ENST00000471858	protein_coding	getma.org/?cm=var&var=hg19,3,112648267,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF2,Superfamily_domains:SSF48726		W/L		A	medium	454/3679		getma.org/?cm=msa&ty=f&p=MO2R1_HUMAN&rb=53&re=139&var=W74L	deleterious(0)					CD200R1,missense_variant,p.Trp74Leu,ENST00000471858,NM_170780.2;CD200R1,missense_variant,p.Trp97Leu,ENST00000308611,NM_138806.3;CD200R1,missense_variant,p.Trp52Leu,ENST00000295863,;CD200R1,missense_variant,p.Trp97Leu,ENST00000440122,NM_138939.2;CD200R1,missense_variant,p.Trp74Leu,ENST00000490004,NM_138940.2;							MODERATE	221/978	W74L	MO2R1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000418928		CCDS2970.1			1	
FAM26E	0	LGGM	GRCh37	6	116837141	116837141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	6	.	.	ENST00000368599.3:c.919C>A	p.His307Asn	p.H307N	ENST00000368599	NM_153711.2	307	Cac/Aac	0	1	1	UPI0000072525	0	NA	ENST00000368599		ENSG00000178033	21568		57	0		HGNC	p.H307N		FAM26E		SNV							ENST00000368599	protein_coding	getma.org/?cm=var&var=hg19,6,116837141,C,A&fts=all		hmmpanther:PTHR32261:SF4,hmmpanther:PTHR32261		H/N		A	neutral	970/9784		getma.org/?cm=msa&ty=f&p=FA26E_HUMAN&rb=277&re=309&var=H307N	tolerated_low_confidence(0.08)				YES	FAM26E,missense_variant,p.His307Asn,ENST00000368599,NM_153711.2;TRAPPC3L,intron_variant,,ENST00000368602,NM_001139444.2;TRAPPC3L,intron_variant,,ENST00000437098,;TRAPPC3L,upstream_gene_variant,,ENST00000356128,;							MODERATE	919/930	H307N	FA26E_HUMAN			Transcript		benign(0.033)	.	ENSP00000357588		CCDS5108.1			1	
GRIN2B	0	LGGM	GRCh37	12	13828725	13828725	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	123	6	.	.	ENST00000609686.1:c.1079C>A	p.Pro360Gln	p.P360Q	ENST00000609686	NM_000834.3	360	cCg/cAg	0	1	1	UPI000013026C	0	getma.org/pdb.php?prot=NMDE2_HUMAN&from=320&to=451&var=P360Q	ENST00000609686		ENSG00000273079	4586		129	2.66		HGNC	p.P360Q		GRIN2B		SNV			1				ENST00000279593	protein_coding	getma.org/?cm=var&var=hg19,12,13828725,G,T&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Superfamily_domains:SSF53822		P/Q		T	medium	1289/27217		getma.org/?cm=msa&ty=f&p=NMDE2_HUMAN&rb=320&re=451&var=P360Q	deleterious(0)	Q59HA9_HUMAN			YES	GRIN2B,missense_variant,p.Pro360Gln,ENST00000609686,NM_000834.3;							MODERATE	1079/4455	P360Q	NMDE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000477455		CCDS8662.1			1	
AHNAK2	0	LGGM	GRCh37	14	105419067	105419067	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	6	.	.	ENST00000333244.5:c.2721C>A	p.Pro907=	p.P907=	ENST00000333244	NM_138420.2	907	ccC/ccA	0	1	1	UPI00015BB2CA	0		ENST00000333244		ENSG00000185567	20125		102			HGNC	p.P907P		AHNAK2		SNV							ENST00000333244	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		P		T		2841/18254							YES	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							LOW	2721/17388		AHNK2_HUMAN			Transcript			.	ENSP00000353114		CCDS45177.1			1	
TAS2R31	0	LGGM	GRCh37	12	11183831	11183831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000390675.2:c.104G>T	p.Arg35Leu	p.R35L	ENST00000390675	NM_176885.2	35	cGg/cTg	0	1	1	UPI000000D820	0	NA	ENST00000390675		ENSG00000256436	19113		96	-1.28		HGNC	p.R35L		TAS2R31		SNV							ENST00000390675	protein_coding	getma.org/?cm=var&var=hg19,12,11183831,C,A&fts=all		hmmpanther:PTHR11394:SF54,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321		R/L		A	neutral	176/1021		getma.org/?cm=msa&ty=f&p=T2R31_HUMAN&rb=1&re=298&var=R35L	deleterious(0.04)				YES	TAS2R31,missense_variant,p.Arg35Leu,ENST00000390675,NM_176885.2;AC018630.1,upstream_gene_variant,,ENST00000601123,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000541456,;							MODERATE	104/930	R35L	T2R31_HUMAN			Transcript		benign(0)	.	ENSP00000375093		CCDS53747.1			1	
POLH	0	LGGM	GRCh37	6	43581891	43581891	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	51	6	.	.	ENST00000372236.4:c.1739G>T	p.Gly580Val	p.G580V	ENST00000372236	NM_006502.2	580	gGg/gTg	0	1	1	UPI000006F8FD	0	NA	ENST00000372236		ENSG00000170734	9181		57	-0.55		HGNC	p.G518V		POLH		SNV			1				ENST00000535400	protein_coding	getma.org/?cm=var&var=hg19,6,43581891,G,T&fts=all		hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,PIRSF_domain:PIRSF036603		G/V		T	neutral	2034/3540		getma.org/?cm=msa&ty=f&p=POLH_HUMAN&rb=420&re=619&var=G580V	tolerated(0.23)	Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN			YES	POLH,missense_variant,p.Gly580Val,ENST00000372236,NM_006502.2;POLH,missense_variant,p.Gly518Val,ENST00000535400,;POLH,3_prime_UTR_variant,,ENST00000372226,;GTPBP2,intron_variant,,ENST00000496137,;							MODERATE	1739/2142	G580V	POLH_HUMAN			Transcript		benign(0.001)	.	ENSP00000361310		CCDS4902.1			1	
PHACTR3	0	LGGM	GRCh37	20	58381189	58381189	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	6	.	.	ENST00000371015.1:c.1268C>A	p.Pro423His	p.P423H	ENST00000371015	NM_080672.4	423	cCc/cAc	0	1	1	UPI000006D452	0	NA	ENST00000371015		ENSG00000087495	15833		93	1.875		HGNC	p.P423H		PHACTR3		SNV							ENST00000371015	protein_coding	getma.org/?cm=var&var=hg19,20,58381189,C,A&fts=all		SMART_domains:SM00707,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7,PROSITE_profiles:PS51073		P/H		A	low	1735/2728		getma.org/?cm=msa&ty=f&p=PHAR3_HUMAN&rb=401&re=438&var=P423H	deleterious(0)	F6RP66_HUMAN			YES	PHACTR3,missense_variant,p.Pro423His,ENST00000371015,NM_080672.4;PHACTR3,missense_variant,p.Pro312His,ENST00000395639,;PHACTR3,missense_variant,p.Pro382His,ENST00000395636,NM_183244.1;PHACTR3,missense_variant,p.Pro420His,ENST00000359926,NM_001199505.1;PHACTR3,missense_variant,p.Pro382His,ENST00000355648,NM_001199506.1;PHACTR3,missense_variant,p.Pro312His,ENST00000361300,NM_183246.1;PHACTR3,missense_variant,p.Pro382His,ENST00000541461,NM_001281507.1;							MODERATE	1268/1680	P423H	PHAR3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000360054		CCDS13480.1			1	
BEND4	0	LGGM	GRCh37	4	42145722	42145722	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	6	.	.	ENST00000502486.1:c.777G>T	p.Ser259=	p.S259=	ENST00000502486	NM_207406.3	259	tcG/tcT	0	1	1	UPI00015386AF	0		ENST00000502486		ENSG00000188848	23815		73			HGNC	p.S259S	rs374201211	BEND4		SNV	A:0.0003			0.000102			ENST00000502486	protein_coding					S	A:0	A		1357/8765	1.50E-05						YES	BEND4,synonymous_variant,p.=,ENST00000502486,NM_207406.3;BEND4,synonymous_variant,p.=,ENST00000504360,NM_001159547.1;							LOW	777/1605		BEND4_HUMAN			Transcript			.	ENSP00000421169	1.66E-05	CCDS47048.1			1	
PTPRC	0	LGGM	GRCh37	1	198717326	198717326	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	6	.	.	ENST00000442510.2:c.2936C>A	p.Pro979Gln	p.P979Q	ENST00000442510		979	cCa/cAa	0	1	1	UPI000046FDB4	0	getma.org/pdb.php?prot=PTPRC_HUMAN&from=966&to=1225&var=P977Q	ENST00000442510		ENSG00000081237	9666		56	4.265		HGNC	p.P929Q		PTPRC		SNV			1				ENST00000352140	protein_coding	getma.org/?cm=var&var=hg19,1,198717326,C,A&fts=all		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		P/Q		A	high	3077/5164		getma.org/?cm=msa&ty=f&p=PTPRC_HUMAN&rb=966&re=1225&var=P977Q	deleterious(0)	M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN			YES	PTPRC,missense_variant,p.Pro977Gln,ENST00000367376,NM_002838.4;PTPRC,missense_variant,p.Pro929Gln,ENST00000352140,;PTPRC,missense_variant,p.Pro979Gln,ENST00000442510,;PTPRC,missense_variant,p.Pro816Gln,ENST00000594404,NM_080921.3;PTPRC,missense_variant,p.Pro818Gln,ENST00000348564,;							MODERATE	2936/3921	P977Q				Transcript		probably_damaging(0.998)	.	ENSP00000411355		CCDS1397.2			1	
OR2G3	0	LGGM	GRCh37	1	247769007	247769007	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	6	.	.	ENST00000320002.2:c.120G>T	p.Val40=	p.V40=	ENST00000320002	NM_001001914.1	40	gtG/gtT	0	1	1	UPI0000041CD9	0		ENST00000320002		ENSG00000177476	15008		85			HGNC	p.V40V		OR2G3		SNV							ENST00000320002	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		T		152/983							YES	OR2G3,synonymous_variant,p.=,ENST00000320002,NM_001001914.1;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;							LOW	120/930		OR2G3_HUMAN			Transcript			.	ENSP00000326301		CCDS31093.1			1	
IGLV1-44	0	LGGM	GRCh37	22	22735508	22735508	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	6	.	.	ENST00000390297.2:c.145G>T	p.Gly49Ter	p.G49*	ENST00000390297		49	Gga/Tga	0	1	1	UPI0000115F98	0		ENST00000390297		ENSG00000211651	5879		91			HGNC	p.G49X		IGLV1-44		SNV							ENST00000390297	IG_V_gene			Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF116,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		G/*		T		259/466							YES	IGLV1-44,stop_gained,p.Gly49Ter,ENST00000390297,;IGLV5-45,downstream_gene_variant,,ENST00000390296,;							HIGH	145/352					Transcript			.	ENSP00000374832					1	
OR10Q1	0	LGGM	GRCh37	11	57996215	57996215	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	6	.	.	ENST00000316770.2:c.133G>T	p.Gly45Cys	p.G45C	ENST00000316770	NM_001004471.2	45	Ggc/Tgc	0	1	1	UPI0000041C4C	0	getma.org/pdb.php?prot=O10Q1_HUMAN&from=1&to=142&var=G45C	ENST00000316770		ENSG00000180475	15134		77	3.58		HGNC	p.G45C		OR10Q1		SNV							ENST00000316770	protein_coding	getma.org/?cm=var&var=hg19,11,57996215,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/C		A	high	176/1037		getma.org/?cm=msa&ty=f&p=O10Q1_HUMAN&rb=1&re=142&var=G45C	deleterious(0)				YES	OR10Q1,missense_variant,p.Gly45Cys,ENST00000316770,NM_001004471.2;							MODERATE	133/960	G45C	O10Q1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000314324		CCDS31547.1			1	
PTPRJ	0	LGGM	GRCh37	11	48158589	48158589	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	6	.	.	ENST00000418331.2:c.1908C>A	p.Thr636=	p.T636=	ENST00000418331	NM_002843.3	636	acC/acA	0	1	1	UPI00004564C8	0		ENST00000418331		ENSG00000149177	9673		85			HGNC	p.T636T		PTPRJ		SNV							ENST00000418331	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211,SMART_domains:SM00060,Superfamily_domains:SSF49265		T		A		2260/5122				Q9NPR5_HUMAN			YES	PTPRJ,synonymous_variant,p.=,ENST00000418331,NM_002843.3;PTPRJ,downstream_gene_variant,,ENST00000440289,NM_001098503.1;							LOW	1908/4014		PTPRJ_HUMAN			Transcript			.	ENSP00000400010		CCDS7945.1			1	
TLR8	0	LGGM	GRCh37	X	12938454	12938454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	119	6	.	.	ENST00000218032.6:c.1295C>A	p.Pro432Gln	p.P432Q	ENST00000218032	NM_138636.4	432	cCg/cAg	0	1	1	UPI000004BAFC	0	NA	ENST00000218032		ENSG00000101916	15632		125	-0.29		HGNC	p.P450Q		TLR8		SNV							ENST00000311912	protein_coding	getma.org/?cm=var&var=hg19,X,12938454,C,A&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Gene3D:3.80.10.10,SMART_domains:SM00365,SMART_domains:SM00369,Superfamily_domains:SSF52047		P/Q		A	neutral	1382/4216		getma.org/?cm=msa&ty=f&p=TLR8_HUMAN&rb=324&re=523&var=P432Q	deleterious(0)	Q8NC00_HUMAN,B4DLJ2_HUMAN			YES	TLR8,missense_variant,p.Pro432Gln,ENST00000218032,NM_138636.4;TLR8,missense_variant,p.Pro450Gln,ENST00000311912,;							MODERATE	1295/3126	P432Q	TLR8_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000218032		CCDS14152.1			1	
HMCN1	0	LGGM	GRCh37	1	185931675	185931675	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	6	.	.	ENST00000271588.4:c.1854C>A	p.Pro618=	p.P618=	ENST00000271588	NM_031935.2	618	ccC/ccA	0	1	1	UPI0000458C0E	0		ENST00000271588		ENSG00000143341	19194		79			HGNC	p.P618P	COSM3355911	HMCN1		SNV			1			1	ENST00000271588	protein_coding			Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		A		2083/18208							YES	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;HMCN1,upstream_gene_variant,,ENST00000493413,;					1		LOW	1854/16908		HMCN1_HUMAN			Transcript			.	ENSP00000271588		CCDS30956.1			1	
RARRES1	0	LGGM	GRCh37	3	158415489	158415489	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000237696.5:c.863C>A	p.Pro288Gln	p.P288Q	ENST00000237696	NM_206963.1	288	cCa/cAa	0	1	1	UPI000006E088	0	NA	ENST00000237696		ENSG00000118849	9867		96	0.695		HGNC	p.P288Q		RARRES1		SNV							ENST00000237696	protein_coding	getma.org/?cm=var&var=hg19,3,158415489,G,T&fts=all		PIRSF_domain:PIRSF500784,PIRSF_domain:PIRSF011132		P/Q		T	neutral	1144/1952		getma.org/?cm=msa&ty=f&p=TIG1_HUMAN&rb=247&re=294&var=P288Q	tolerated(0.11)				YES	RARRES1,missense_variant,p.Pro288Gln,ENST00000237696,NM_206963.1;RP11-379F4.7,upstream_gene_variant,,ENST00000607624,;RP11-379F4.6,downstream_gene_variant,,ENST00000606185,;RARRES1,downstream_gene_variant,,ENST00000462663,;							MODERATE	863/885	P288Q	TIG1_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000237696		CCDS3184.1			1	
NEK5	0	LGGM	GRCh37	13	52701573	52701573	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000355568.4:c.46G>T	p.Gly16Trp	p.G16W	ENST00000355568	NM_199289.1	16	Ggg/Tgg	0	1	1	UPI0000227E77	0	getma.org/pdb.php?prot=NEK5_HUMAN&from=4&to=259&var=G16W	ENST00000355568		ENSG00000197168	7748		92	4.265		HGNC	p.G16W	COSM3671295,COSM3671294	NEK5		SNV						1,1	ENST00000355568	protein_coding	getma.org/?cm=var&var=hg19,13,52701573,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF224,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/W		A	high	186/2918		getma.org/?cm=msa&ty=f&p=NEK5_HUMAN&rb=4&re=259&var=G16W	deleterious(0)				YES	NEK5,missense_variant,p.Gly16Trp,ENST00000355568,NM_199289.1;NEK5,missense_variant,p.Gly16Trp,ENST00000465811,;					1,1		MODERATE	46/2127	G16W	NEK5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347767		CCDS31979.1			1	
KIRREL3	0	LGGM	GRCh37	11	126299111	126299111	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	6	.	.	ENST00000525144.2:c.1769G>T	p.Arg590Leu	p.R590L	ENST00000525144	NM_032531.3	590	cGg/cTg	0	1	1	UPI00000740A0	0	NA	ENST00000525144		ENSG00000149571	23204		52	1.04		HGNC	p.R57L		KIRREL3		SNV			1				ENST00000416561	protein_coding	getma.org/?cm=var&var=hg19,11,126299111,C,A&fts=all		hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49		R/L		A	low	2019/3808		getma.org/?cm=msa&ty=f&p=KIRR3_HUMAN&rb=516&re=715&var=R590L	tolerated(0.08)	B4DT91_HUMAN			YES	KIRREL3,missense_variant,p.Arg590Leu,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Arg578Leu,ENST00000529097,;KIRREL3,missense_variant,p.Arg57Leu,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,;							MODERATE	1769/2337	R590L	KIRR3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000435466		CCDS53723.1			1	
ANXA3	0	LGGM	GRCh37	4	79516953	79516953	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	41	6	.	.	ENST00000264908.6:c.546C>A	p.Leu182=	p.L182=	ENST00000264908	NM_005139.2	182	ctC/ctA	0	1	1	UPI0000110519	0		ENST00000264908		ENSG00000138772	541		47			HGNC	p.L182L		ANXA3		SNV							ENST00000264908	protein_coding			hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,Gene3D:1.10.220.10,Pfam_domain:PF00191,Superfamily_domains:SSF47874,Prints_domain:PR00196		L		A		925/1657				D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN			YES	ANXA3,synonymous_variant,p.=,ENST00000264908,NM_005139.2;ANXA3,synonymous_variant,p.=,ENST00000503570,;ANXA3,synonymous_variant,p.=,ENST00000512884,;ANXA3,synonymous_variant,p.=,ENST00000512542,;ANXA3,downstream_gene_variant,,ENST00000514171,;ANXA3,upstream_gene_variant,,ENST00000505805,;							LOW	546/972		ANXA3_HUMAN			Transcript			.	ENSP00000264908		CCDS3584.1			1	
REPS2	0	LGGM	GRCh37	X	17152020	17152020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	95	6	.	.	ENST00000357277.3:c.1652C>A	p.Pro551Gln	p.P551Q	ENST00000357277	NM_001080975.1	551	cCa/cAa	0	1	1	UPI00001BBB18	0	NA	ENST00000357277		ENSG00000169891	9963		101	1.825		HGNC	p.P350Q		REPS2		SNV							ENST00000380064	protein_coding	getma.org/?cm=var&var=hg19,X,17152020,C,A&fts=all		hmmpanther:PTHR11216:SF64,hmmpanther:PTHR11216		P/Q		A	low	1823/7945		getma.org/?cm=msa&ty=f&p=REPS2_HUMAN&rb=381&re=659&var=P551Q	tolerated(0.07)				YES	REPS2,missense_variant,p.Pro551Gln,ENST00000357277,NM_001080975.1,NM_004726.2;REPS2,missense_variant,p.Pro550Gln,ENST00000303843,;REPS2,missense_variant,p.Pro350Gln,ENST00000380064,;REPS2,non_coding_transcript_exon_variant,,ENST00000469714,;REPS2,upstream_gene_variant,,ENST00000470686,;							MODERATE	1652/1983	P551Q	REPS2_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000349824		CCDS14180.2			1	
RAVER2	0	LGGM	GRCh37	1	65270679	65270679	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	114	6	.	.	ENST00000371072.4:c.1263C>A	p.Pro421=	p.P421=	ENST00000371072	NM_018211.3	421	ccC/ccA	0	1		UPI000050AAAF	0		ENST00000294428		ENSG00000162437	25577		120			HGNC	p.P434P		RAVER2		SNV							ENST00000294428	protein_coding			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF6		P		A		1380/4398								RAVER2,synonymous_variant,p.=,ENST00000294428,;RAVER2,synonymous_variant,p.=,ENST00000371072,NM_018211.3;RAVER2,intron_variant,,ENST00000430964,;RAVER2,synonymous_variant,p.=,ENST00000418058,;							LOW	1302/2076		RAVR2_HUMAN			Transcript			.	ENSP00000294428					1	
NEXN	0	LGGM	GRCh37	1	78390893	78390893	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000334785.7:c.468G>T	p.Thr156=	p.T156=	ENST00000334785	NM_144573.3	156	acG/acT	0	1	1	UPI000022ABDC	0		ENST00000334785		ENSG00000162614	29557		92			HGNC	p.T92T		NEXN		SNV			1				ENST00000401035	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22964		T		T		652/2607				B4DDI0_HUMAN			YES	NEXN,synonymous_variant,p.=,ENST00000330010,NM_001172309.1;NEXN,synonymous_variant,p.=,ENST00000342754,;NEXN,synonymous_variant,p.=,ENST00000334785,NM_144573.3;NEXN,synonymous_variant,p.=,ENST00000401035,;NEXN,intron_variant,,ENST00000457030,;NEXN,intron_variant,,ENST00000440324,;NEXN,downstream_gene_variant,,ENST00000294624,;NEXN,upstream_gene_variant,,ENST00000464998,;							LOW	468/2028		NEXN_HUMAN			Transcript			.	ENSP00000333938		CCDS41351.1			1	
VPS13B	0	LGGM	GRCh37	8	100287368	100287368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000358544.2:c.2710C>A	p.Leu904Ile	p.L904I	ENST00000358544	NM_017890.4	904	Ctt/Att	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		96	0.895		HGNC	p.L904I		VPS13B		SNV			1				ENST00000395996	protein_coding	getma.org/?cm=var&var=hg19,8,100287368,C,A&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		L/I		A	low	2821/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=721&re=920&var=L904I	tolerated(0.17)				YES	VPS13B,missense_variant,p.Leu904Ile,ENST00000395996,;VPS13B,missense_variant,p.Leu904Ile,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Leu904Ile,ENST00000357162,NM_152564.4;VPS13B,upstream_gene_variant,,ENST00000522802,;VPS13B,missense_variant,p.Leu904Ile,ENST00000496144,;							MODERATE	2710/12069	L904I	VP13B_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000351346		CCDS6280.1			1	
PCP4	0	LGGM	GRCh37	21	41300949	41300949	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	6	.	.	ENST00000328619.5:c.102G>T	p.Met34Ile	p.M34I	ENST00000328619	NM_006198.2	34	atG/atT	0	1	1	UPI00001697DE	0		ENST00000328619		ENSG00000183036	8742		65			HGNC	p.M34I		PCP4		SNV							ENST00000328619	protein_coding			hmmpanther:PTHR15359:SF7,hmmpanther:PTHR15359		M/I		T		287/660			deleterious(0.01)				YES	PCP4,missense_variant,p.Met34Ile,ENST00000328619,NM_006198.2;PCP4,non_coding_transcript_exon_variant,,ENST00000468717,;PCP4,non_coding_transcript_exon_variant,,ENST00000467565,;PCP4,3_prime_UTR_variant,,ENST00000462224,;							MODERATE	102/189		PCP4_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000329403		CCDS33563.1			1	
SORL1	0	LGGM	GRCh37	11	121358826	121358826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	83	6	.	.	ENST00000260197.7:c.614G>T	p.Arg205Leu	p.R205L	ENST00000260197	NM_003105.5	205	cGg/cTg	0	1	1	UPI000013D0B1	0	getma.org/pdb.php?prot=SORL_HUMAN&from=35&to=753&var=R205L	ENST00000260197		ENSG00000137642	11185		89	0.55		HGNC	p.R205L		SORL1		SNV			1				ENST00000260197	protein_coding	getma.org/?cm=var&var=hg19,11,121358826,G,T&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20,SMART_domains:SM00602,Superfamily_domains:SSF110296		R/L		T	neutral	743/10904		getma.org/?cm=msa&ty=f&p=SORL_HUMAN&rb=35&re=753&var=R205L	deleterious(0.03)	E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,missense_variant,p.Arg205Leu,ENST00000260197,NM_003105.5;SORL1,non_coding_transcript_exon_variant,,ENST00000532451,;							MODERATE	614/6645	R205L	SORL_HUMAN			Transcript		benign(0.209)	.	ENSP00000260197		CCDS8436.1			1	
PLEKHS1	0	LGGM	GRCh37	10	115536914	115536914	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	6	.	.	ENST00000369310.3:c.1063G>T	p.Gly355Ter	p.G355*	ENST00000369310	NM_182601.1	355	Gga/Tga	0	1	1	UPI000047020C	0	NA	ENST00000369310		ENSG00000148735	26285		27	0		HGNC	p.G273X	COSM1345899	PLEKHS1		SNV						1	ENST00000369312	protein_coding	getma.org/?cm=var&var=hg19,10,115536914,G,T&fts=all		hmmpanther:PTHR12156:SF19,hmmpanther:PTHR12156		G/*		T	NA	1625/2046		NA					YES	PLEKHS1,stop_gained,p.Gly105Ter,ENST00000354462,;PLEKHS1,stop_gained,p.Gly189Ter,ENST00000369309,;PLEKHS1,stop_gained,p.Gly355Ter,ENST00000369310,NM_182601.1;PLEKHS1,stop_gained,p.Gly273Ter,ENST00000369312,NM_001193434.1,NM_001193435.1;PLEKHS1,stop_gained,p.Gly86Ter,ENST00000448805,;PLEKHS1,intron_variant,,ENST00000361048,NM_024889.4;					1		HIGH	1063/1398	G369*	PKHS1_HUMAN			Transcript			.	ENSP00000358316		CCDS53580.1			1	
UNC13C	0	LGGM	GRCh37	15	54592460	54592460	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	6	.	.	ENST00000260323.11:c.4157C>A	p.Pro1386Gln	p.P1386Q	ENST00000260323	NM_001080534.1	1386	cCa/cAa	0	1	1	UPI0000DD82AB	0	NA	ENST00000260323		ENSG00000137766	23149		67	2.7		HGNC	p.P1384Q		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54592460,C,A&fts=all		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		P/Q		A	medium	4157/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1314&re=1513&var=P1386Q	deleterious_low_confidence(0)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Pro1386Gln,ENST00000545554,;UNC13C,missense_variant,p.Pro1384Gln,ENST00000537900,;UNC13C,missense_variant,p.Pro1386Gln,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;							MODERATE	4157/6645	P1386Q	UN13C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260323		CCDS45264.1			1	
CR2	0	LGGM	GRCh37	1	207647058	207647058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	6	.	.	ENST00000367057.3:c.2147G>T	p.Arg716Leu	p.R716L	ENST00000367057	NM_001006658.2	716	cGg/cTg	0	1		UPI000013D4F7	0	getma.org/pdb.php?prot=C9JHD2_HUMAN&from=661&to=717&var=R716L	ENST00000367058		ENSG00000117322	2336		79	1.46		HGNC	p.R716L		CR2		SNV			1				ENST00000367057	protein_coding	getma.org/?cm=var&var=hg19,1,207647058,G,T&fts=all						T	low	-/4063		getma.org/?cm=msa&ty=f&p=C9JHD2_HUMAN&rb=661&re=717&var=R716L						CR2,missense_variant,p.Arg716Leu,ENST00000367057,NM_001006658.2;CR2,intron_variant,,ENST00000367058,NM_001877.4;CR2,intron_variant,,ENST00000367059,;CR2,intron_variant,,ENST00000458541,;CR2,downstream_gene_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000475194,;							MODIFIER	-/3102	R716L	CR2_HUMAN			Transcript			.	ENSP00000356025		CCDS1478.1			1	
DCN	0	LGGM	GRCh37	12	91572227	91572227	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	50	6	.	.	ENST00000052754.5:c.103G>T	p.Gly35Trp	p.G35W	ENST00000052754	NM_001920.3	35	Ggg/Tgg	0	1	1	UPI000013187E	0	NA	ENST00000052754		ENSG00000011465	2705		56	2.35		HGNC	p.G35W		DCN		SNV			1				ENST00000550563	protein_coding	getma.org/?cm=var&var=hg19,12,91572227,C,A&fts=all		hmmpanther:PTHR24369:SF5,hmmpanther:PTHR24369,PIRSF_domain:PIRSF002490		G/W		A	medium	605/2392		getma.org/?cm=msa&ty=f&p=PGS2_HUMAN&rb=1&re=52&var=G35W	deleterious(0)	Q6FH10_HUMAN,F8VXZ8_HUMAN,F8VX58_HUMAN,F8VWU0_HUMAN,F8VUF6_HUMAN			YES	DCN,missense_variant,p.Gly35Trp,ENST00000551354,;DCN,missense_variant,p.Gly35Trp,ENST00000052754,NM_001920.3;DCN,missense_variant,p.Gly35Trp,ENST00000393155,NM_133503.2;DCN,missense_variant,p.Gly35Trp,ENST00000228329,;DCN,missense_variant,p.Gly35Trp,ENST00000552962,;DCN,missense_variant,p.Gly35Trp,ENST00000303320,NM_133506.2;DCN,missense_variant,p.Gly35Trp,ENST00000425043,NM_133505.2;DCN,missense_variant,p.Gly35Trp,ENST00000546745,;DCN,missense_variant,p.Gly35Trp,ENST00000549513,;DCN,missense_variant,p.Gly35Trp,ENST00000547568,;DCN,missense_variant,p.Gly35Trp,ENST00000420120,NM_133504.2;DCN,missense_variant,p.Gly35Trp,ENST00000547937,;DCN,missense_variant,p.Gly35Trp,ENST00000550099,;DCN,missense_variant,p.Gly35Trp,ENST00000546391,;DCN,missense_variant,p.Gly35Trp,ENST00000552145,;DCN,missense_variant,p.Gly35Trp,ENST00000550563,;DCN,missense_variant,p.Gly35Trp,ENST00000546370,;DCN,missense_variant,p.Gly35Trp,ENST00000441303,;DCN,missense_variant,p.Gly35Trp,ENST00000456569,NM_133507.2;DCN,downstream_gene_variant,,ENST00000548768,;							MODERATE	103/1080	G35W	PGS2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000052754		CCDS9039.1			1	
PCDHGA6	0	LGGM	GRCh37	5	140754885	140754885	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	118	6	.	.	ENST00000517434.1:c.1235G>T	p.Arg412Leu	p.R412L	ENST00000517434	NM_018919.2	412	cGg/cTg	0	1	1	UPI00000715C8	0	getma.org/pdb.php?prot=PCDG6_HUMAN&from=353&to=443&var=R412L	ENST00000517434		ENSG00000253731	8704		124	4.88		HGNC	p.R412L		PCDHGA6		SNV							ENST00000517434	protein_coding	getma.org/?cm=var&var=hg19,5,140754885,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/L		T	high	1235/4605		getma.org/?cm=msa&ty=f&p=PCDG6_HUMAN&rb=353&re=443&var=R412L	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA6,missense_variant,p.Arg412Leu,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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;							MODERATE	1235/2799	R412L	PCDG6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000429601		CCDS54926.1			1	
WDR17	0	LGGM	GRCh37	4	177093574	177093574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000280190.4:c.3268C>A	p.Arg1090Ser	p.R1090S	ENST00000280190		1090	Cgt/Agt	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		92	0.69		HGNC	p.R1090S		WDR17		SNV							ENST00000280190	protein_coding	getma.org/?cm=var&var=hg19,4,177093574,C,A&fts=all				R/S		A	neutral	3424/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=775&re=1320&var=R1090S	tolerated(0.55)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Arg1066Ser,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Arg325Ser,ENST00000443118,;WDR17,missense_variant,p.Arg1090Ser,ENST00000280190,;WDR17,missense_variant,p.Arg1051Ser,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Arg1065Ser,ENST00000507824,;WDR17,non_coding_transcript_exon_variant,,ENST00000508773,;							MODERATE	3268/3969	R1090S	WDR17_HUMAN			Transcript		benign(0.019)	.	ENSP00000280190		CCDS3825.1			1	
TOP2A	0	LGGM	GRCh37	17	38564363	38564363	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	6	.	.	ENST00000423485.1:c.1356C>A	p.Ser452=	p.S452=	ENST00000423485	NM_001067.3	452	tcC/tcA	0	1	1	UPI0000137195	0		ENST00000423485		ENSG00000131747	11989		88			HGNC	p.S452S		TOP2A		SNV			1				ENST00000423485	protein_coding			hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Gene3D:3.40.50.670,SMART_domains:SM00433,Superfamily_domains:SSF56719		S		T		1515/5758				J3QR57_HUMAN,J3KTB7_HUMAN			YES	TOP2A,synonymous_variant,p.=,ENST00000423485,NM_001067.3;							LOW	1356/4596		TOP2A_HUMAN			Transcript			.	ENSP00000411532		CCDS45672.1			1	
KCNH7	0	LGGM	GRCh37	2	163279987	163279987	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	46	6	.	.	ENST00000332142.5:c.2013G>T	p.Ser671=	p.S671=	ENST00000332142	NM_033272.3	671	tcG/tcT	0	1	1	UPI0000167D11	0		ENST00000332142		ENSG00000184611	18863		52			HGNC	p.S671S		KCNH7		SNV							ENST00000332142	protein_coding			Gene3D:3bpzA01,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466		S		A		2113/4113							YES	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;KCNH7,synonymous_variant,p.=,ENST00000328032,NM_173162.2;							LOW	2013/3591		KCNH7_HUMAN			Transcript			.	ENSP00000331727		CCDS2219.1			1	
RNF20	0	LGGM	GRCh37	9	104313040	104313040	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	92	6	.	.	ENST00000389120.3:c.1245C>A	p.Thr415=	p.T415=	ENST00000389120	NM_019592.6	415	acC/acA	0	1	1	UPI00001CE3B5	0		ENST00000389120		ENSG00000155827	10062		98			HGNC	p.T415T		RNF20		SNV							ENST00000389120	protein_coding			hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163		T		A		1335/3936				C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN			YES	RNF20,synonymous_variant,p.=,ENST00000389120,NM_019592.6;AL591377.1,upstream_gene_variant,,ENST00000584534,;							LOW	1245/2928		BRE1A_HUMAN			Transcript			.	ENSP00000373772		CCDS35084.1			1	
RYR3	0	LGGM	GRCh37	15	33895482	33895482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	6	.	.	ENST00000389232.4:c.2081C>A	p.Pro694Gln	p.P694Q	ENST00000389232	NM_001036.3	694	cCa/cAa	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		84	2.89		HGNC	p.P694Q		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33895482,C,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188		P/Q		A	medium	2151/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=657&re=795&var=P694Q					YES	RYR3,missense_variant,p.Pro694Gln,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Pro694Gln,ENST00000415757,NM_001243996.1;							MODERATE	2081/14613	P694Q	RYR3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000373884		CCDS45210.1			1	
PRIMPOL	0	LGGM	GRCh37	4	185615788	185615788	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	6	.	.	ENST00000314970.6:c.1538G>T	p.Trp513Leu	p.W513L	ENST00000314970	NM_152683.2	513	tGg/tTg	0	1	1	UPI000013E37F	0	NA	ENST00000314970		ENSG00000164306	26575		88	2.135		HGNC	p.W513L		PRIMPOL		SNV			1				ENST00000503752	protein_coding	getma.org/?cm=var&var=hg19,4,185615788,G,T&fts=all		hmmpanther:PTHR31399,hmmpanther:PTHR31399:SF0		W/L		T	medium	1971/2289		getma.org/?cm=msa&ty=f&p=CC111_HUMAN&rb=466&re=560&var=W513L		D6RAH5_HUMAN,D6R971_HUMAN			YES	PRIMPOL,missense_variant,p.Trp513Leu,ENST00000314970,NM_152683.2;PRIMPOL,missense_variant,p.Trp512Leu,ENST00000512834,;PRIMPOL,missense_variant,p.Trp513Leu,ENST00000503752,;PRIMPOL,missense_variant,p.Trp384Leu,ENST00000515774,;CENPU,3_prime_UTR_variant,,ENST00000281453,NM_024629.3;CENPU,downstream_gene_variant,,ENST00000541971,;PRIMPOL,downstream_gene_variant,,ENST00000508001,;PRIMPOL,non_coding_transcript_exon_variant,,ENST00000510864,;CENPU,downstream_gene_variant,,ENST00000506535,;PRIMPOL,3_prime_UTR_variant,,ENST00000509002,;PRIMPOL,non_coding_transcript_exon_variant,,ENST00000512658,;CENPU,downstream_gene_variant,,ENST00000510146,;CENPU,downstream_gene_variant,,ENST00000502461,;CENPU,downstream_gene_variant,,ENST00000508095,;							MODERATE	1538/1683	W513L	CC111_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000313816		CCDS3837.1			1	
TTLL4	0	LGGM	GRCh37	2	219602965	219602965	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	6	.	.	ENST00000392102.1:c.566G>T	p.Gly189Val	p.G189V	ENST00000392102	NM_014640.4	189	gGg/gTg	0	1		UPI000013EDFF	0	NA	ENST00000258398		ENSG00000135912	28976		64	1.04		HGNC	p.G24V		TTLL4		SNV							ENST00000457313	protein_coding	getma.org/?cm=var&var=hg19,2,219602965,G,T&fts=all		hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF9		G/V		T	low	669/4730		getma.org/?cm=msa&ty=f&p=TTLL4_HUMAN&rb=156&re=355&var=G189V	tolerated(0.08)	C9JB60_HUMAN,C9J982_HUMAN,C9J3I1_HUMAN				TTLL4,missense_variant,p.Gly189Val,ENST00000392102,NM_014640.4;TTLL4,missense_variant,p.Gly189Val,ENST00000258398,;TTLL4,missense_variant,p.Gly189Val,ENST00000442769,;TTLL4,missense_variant,p.Gly24Val,ENST00000457313,;TTLL4,downstream_gene_variant,,ENST00000437755,;TTLL4,downstream_gene_variant,,ENST00000415717,;TTLL4,downstream_gene_variant,,ENST00000424644,;							MODERATE	566/3600	G189V	TTLL4_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000258398		CCDS2422.1			1	
ZCCHC8	0	LGGM	GRCh37	12	122962410	122962410	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	6	.	.	ENST00000336229.4:c.1323C>A	p.Pro441=	p.P441=	ENST00000336229	NM_017612.3	441	ccC/ccA	0	1	1	UPI00001E0582	0		ENST00000336229		ENSG00000033030	25265		94			HGNC	p.P203P		ZCCHC8		SNV							ENST00000543897	protein_coding			hmmpanther:PTHR13316,hmmpanther:PTHR13316:SF0		P		T		1454/2862				F5H803_HUMAN,F5H6J5_HUMAN,F5GYI9_HUMAN,F5GXQ6_HUMAN			YES	ZCCHC8,synonymous_variant,p.=,ENST00000543897,;ZCCHC8,synonymous_variant,p.=,ENST00000536306,;ZCCHC8,synonymous_variant,p.=,ENST00000336229,NM_017612.3;ZCCHC8,synonymous_variant,p.=,ENST00000538116,;ZCCHC8,synonymous_variant,p.=,ENST00000542892,;ZCCHC8,synonymous_variant,p.=,ENST00000544054,;ZCCHC8,downstream_gene_variant,,ENST00000536663,;ZCCHC8,downstream_gene_variant,,ENST00000540586,;ZCCHC8,downstream_gene_variant,,ENST00000538493,;ZCCHC8,downstream_gene_variant,,ENST00000546149,;							LOW	1323/2124		ZCHC8_HUMAN			Transcript			.	ENSP00000337313					1	
CADPS2	0	LGGM	GRCh37	7	122091428	122091428	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	56	6	.	.	ENST00000449022.2:c.2288G>T	p.Arg763Ile	p.R763I	ENST00000449022	NM_017954.10	763	aGa/aTa	0	1	1	UPI0000668808	0	NA	ENST00000449022		ENSG00000081803	16018		62	2.54		HGNC	p.R760I		CADPS2		SNV							ENST00000412584	protein_coding	getma.org/?cm=var&var=hg19,7,122091428,C,A&fts=all		hmmpanther:PTHR12166,hmmpanther:PTHR12166:SF3		R/I		A	medium	2308/4073		getma.org/?cm=msa&ty=f&p=CAPS2_HUMAN&rb=601&re=799&var=R763I	deleterious(0)	B3KNS2_HUMAN			YES	CADPS2,missense_variant,p.Arg764Ile,ENST00000334010,NM_001167940.1;CADPS2,missense_variant,p.Arg760Ile,ENST00000313070,;CADPS2,missense_variant,p.Arg760Ile,ENST00000412584,NM_001009571.3;CADPS2,missense_variant,p.Arg763Ile,ENST00000449022,NM_017954.10;CADPS2,missense_variant,p.Arg409Ile,ENST00000397721,;							MODERATE	2288/3891	R763I	CAPS2_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000398481		CCDS55158.1			1	
IFNB1	0	LGGM	GRCh37	9	21077641	21077641	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	6	.	.	ENST00000380232.2:c.228C>A	p.Ala76=	p.A76=	ENST00000380232	NM_002176.2	76	gcC/gcA	0	1	1	UPI000004775D	0		ENST00000380232		ENSG00000171855	5434		65			HGNC	p.A76A	rs2229231	IFNB1		SNV	A:0.0218			9.62E-05			ENST00000380232	protein_coding		A:0.0333	Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF7		A	A:0	T		303/840	4.50E-05			Q5VWC9_HUMAN,B5BUQ5_HUMAN	A:0	A:0	YES	IFNB1,synonymous_variant,p.=,ENST00000380232,NM_002176.2;		A:0.0088					LOW	228/564		IFNB_HUMAN		A:0	Transcript			.	ENSP00000369581	3.29E-05	CCDS6495.1		A:0	1	
SH3PXD2A	0	LGGM	GRCh37	10	105361698	105361698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	26	6	.	.	ENST00000355946.2:c.3193C>A	p.Gln1065Lys	p.Q1065K	ENST00000355946	NM_014631.2	1065	Cag/Aag	0	1		UPI000046FCE8	0	getma.org/pdb.php?prot=SPD2A_HUMAN&from=1071&to=1133&var=Q1093K	ENST00000369774		ENSG00000107957	23664		32	-0.255		HGNC	p.Q1065K		SH3PXD2A		SNV							ENST00000355946	protein_coding	getma.org/?cm=var&var=hg19,10,105361698,G,T&fts=all		Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7,SMART_domains:SM00326,Superfamily_domains:SSF50044		Q/K		T	neutral	3554/11468		getma.org/?cm=msa&ty=f&p=SPD2A_HUMAN&rb=1071&re=1133&var=Q1093K	tolerated(0.46)	F5GZ35_HUMAN				SH3PXD2A,missense_variant,p.Gln1093Lys,ENST00000369774,;SH3PXD2A,missense_variant,p.Gln1065Lys,ENST00000355946,NM_014631.2;SH3PXD2A,missense_variant,p.Gln1020Lys,ENST00000420222,;SH3PXD2A,missense_variant,p.Gln960Lys,ENST00000540321,;SH3PXD2A,missense_variant,p.Gln928Lys,ENST00000538130,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;							MODERATE	3277/3402	Q1093K	SPD2A_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000358789					1	
RYR3	0	LGGM	GRCh37	15	34021179	34021179	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	6	.	.	ENST00000389232.4:c.7155G>T	p.Leu2385=	p.L2385=	ENST00000389232	NM_001036.3	2385	ctG/ctT	0	1	1	UPI0000E5B01A	0		ENST00000389232		ENSG00000198838	10485		79			HGNC	p.L2385L		RYR3		SNV							ENST00000415757	protein_coding			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		L		T		7225/15559							YES	RYR3,synonymous_variant,p.=,ENST00000389232,NM_001036.3;RYR3,synonymous_variant,p.=,ENST00000415757,NM_001243996.1;							LOW	7155/14613		RYR3_HUMAN			Transcript			.	ENSP00000373884		CCDS45210.1			1	
KLHL12	0	LGGM	GRCh37	1	202862435	202862435	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	6	.	.	ENST00000367261.3:c.1512C>A	p.Thr504=	p.T504=	ENST00000367261	NM_021633.2	504	acC/acA	0	1	1	UPI000006EE6A	0		ENST00000367261		ENSG00000117153	19360		73			HGNC	p.T542T		KLHL12		SNV							ENST00000435533	protein_coding			Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,Prints_domain:PR00501,hmmpanther:PTHR24412,Low_complexity_(Seg):seg,SMART_domains:SM00612		T		T		1731/3359							YES	KLHL12,synonymous_variant,p.=,ENST00000367261,NM_021633.2;KLHL12,synonymous_variant,p.=,ENST00000435533,;KLHL12,intron_variant,,ENST00000367259,;RABIF,upstream_gene_variant,,ENST00000367262,NM_002871.4;							LOW	1512/1707		KLH12_HUMAN			Transcript			.	ENSP00000356230		CCDS1429.1			1	
FASTKD5	0	LGGM	GRCh37	20	3128492	3128492	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	6	.	.	ENST00000380266.3:c.1225G>T	p.Gly409Ter	p.G409*	ENST00000380266	NM_021826.4	409	Gga/Tga	0	1	1	UPI000015F514	0	NA	ENST00000380266		ENSG00000215251	25790		55	0		HGNC	p.G409X		FASTKD5		SNV							ENST00000380266	protein_coding	getma.org/?cm=var&var=hg19,20,3128492,C,A&fts=all		hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF30		G/*		A	NA	1547/2874		NA					YES	FASTKD5,stop_gained,p.Gly409Ter,ENST00000380266,NM_021826.4;UBOX5,intron_variant,,ENST00000217173,NM_001267584.1,NM_014948.3;UBOX5,intron_variant,,ENST00000348031,NM_199415.2;UBOX5,intron_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;							HIGH	1225/2295	G409*	FAKD5_HUMAN			Transcript			.	ENSP00000369618		CCDS13048.1			1	
BLMH	0	LGGM	GRCh37	17	28599836	28599836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	6	.	.	ENST00000261714.6:c.883G>T	p.Gly295Trp	p.G295W	ENST00000261714	NM_000386.3	295	Ggg/Tgg	0	1	1	UPI0000000C54	0	getma.org/pdb.php?prot=BLMH_HUMAN&from=5&to=451&var=G295W	ENST00000261714		ENSG00000108578	1059		78	3.68		HGNC	p.G208W	COSM3672401	BLMH		SNV			1			1	ENST00000394819	protein_coding	getma.org/?cm=var&var=hg19,17,28599836,C,A&fts=all		hmmpanther:PTHR10363,Gene3D:3.90.70.10,Pfam_domain:PF03051,PIRSF_domain:PIRSF005700,Superfamily_domains:SSF54001		G/W		A	high	1058/2360		getma.org/?cm=msa&ty=f&p=BLMH_HUMAN&rb=5&re=451&var=G295W	deleterious(0.03)	K7EMJ3_HUMAN,J3KS79_HUMAN			YES	BLMH,missense_variant,p.Gly295Trp,ENST00000261714,NM_000386.3;BLMH,missense_variant,p.Gly208Trp,ENST00000394819,;BLMH,missense_variant,p.Gly293Trp,ENST00000584603,;BLMH,missense_variant,p.Gly119Trp,ENST00000577623,;BLMH,missense_variant,p.Gly175Trp,ENST00000581037,;BLMH,downstream_gene_variant,,ENST00000582669,;BLMH,3_prime_UTR_variant,,ENST00000578090,;BLMH,non_coding_transcript_exon_variant,,ENST00000577306,;BLMH,downstream_gene_variant,,ENST00000579325,;BLMH,upstream_gene_variant,,ENST00000579957,;					1		MODERATE	883/1368	G295W	BLMH_HUMAN			Transcript		benign(0.127)	.	ENSP00000261714		CCDS32604.1			1	
OR2A14	0	LGGM	GRCh37	7	143826703	143826703	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	79	6	.	.	ENST00000408899.2:c.498C>A	p.Pro166=	p.P166=	ENST00000408899	NM_001001659.1	166	ccC/ccA	0	1	1	UPI0000061E6E	0		ENST00000408899		ENSG00000221938	15084		85			HGNC	p.P166P		OR2A14		SNV							ENST00000408899	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF27,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		P		A		553/1012							YES	OR2A14,synonymous_variant,p.=,ENST00000408899,NM_001001659.1;							LOW	498/933		O2A14_HUMAN			Transcript			.	ENSP00000386137		CCDS43672.1			1	
DISP2	0	LGGM	GRCh37	15	40659684	40659684	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	6	.	.	ENST00000267889.3:c.1371C>A	p.Ala457=	p.A457=	ENST00000267889	NM_033510.1	457	gcC/gcA	0	1	1	UPI0000160F9B	0		ENST00000267889		ENSG00000140323	19712		67			HGNC	p.A457A		DISP2		SNV							ENST00000267889	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58		A		A		1458/5031							YES	DISP2,synonymous_variant,p.=,ENST00000267889,NM_033510.1;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;							LOW	1371/4206		DISP2_HUMAN			Transcript			.	ENSP00000267889		CCDS10056.1			1	
GPHN	0	LGGM	GRCh37	14	67576963	67576963	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	94	6	.	.	ENST00000478722.1:c.1400G>T	p.Arg467Met	p.R467M	ENST00000478722	NM_020806.4	467	aGg/aTg	0	1		UPI000012B3C7	0	getma.org/pdb.php?prot=GEPH_HUMAN&from=323&to=489&var=R434M	ENST00000315266		ENSG00000171723	15465		100	0.895		HGNC	p.R467M		GPHN		SNV			1				ENST00000478722	protein_coding	getma.org/?cm=var&var=hg19,14,67576963,G,T&fts=all		hmmpanther:PTHR10192,hmmpanther:PTHR10192:SF5,Pfam_domain:PF03453,Gene3D:2.170.190.11,Superfamily_domains:SSF63882		R/M		T	low	2422/4193		getma.org/?cm=msa&ty=f&p=GEPH_HUMAN&rb=323&re=489&var=R434M	deleterious(0.01)					GPHN,missense_variant,p.Arg467Met,ENST00000478722,NM_020806.4;GPHN,missense_variant,p.Arg434Met,ENST00000315266,NM_001024218.1;GPHN,missense_variant,p.Arg480Met,ENST00000543237,;GPHN,missense_variant,p.Arg403Met,ENST00000305960,;GPHN,upstream_gene_variant,,ENST00000555503,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,upstream_gene_variant,,ENST00000555527,;GPHN,non_coding_transcript_exon_variant,,ENST00000556501,;							MODERATE	1301/2211	R434M	GEPH_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000312771		CCDS32103.1			1	
TRIP12	0	LGGM	GRCh37	2	230678977	230678977	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	123	6	.	.	ENST00000283943.5:c.1652G>T	p.Arg551Leu	p.R551L	ENST00000283943	NM_004238.1	551	cGg/cTg	0	1	1	UPI000013739D	0	NA	ENST00000283943		ENSG00000153827	12306		129	2.035		HGNC	p.R599L		TRIP12		SNV							ENST00000389044	protein_coding	getma.org/?cm=var&var=hg19,2,230678977,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		R/L		A	medium	1831/9874		getma.org/?cm=msa&ty=f&p=TRIPC_HUMAN&rb=385&re=584&var=R551L	deleterious(0)	Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	TRIP12,missense_variant,p.Arg551Leu,ENST00000283943,NM_004238.1;TRIP12,missense_variant,p.Arg599Leu,ENST00000389044,NM_001284214.1;TRIP12,missense_variant,p.Arg254Leu,ENST00000389045,NM_001284216.1;TRIP12,intron_variant,,ENST00000543084,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;TRIP12,non_coding_transcript_exon_variant,,ENST00000477441,;							MODERATE	1652/5979	R551L	TRIPC_HUMAN			Transcript		benign(0.099)	.	ENSP00000283943		CCDS33391.1			1	
USP35	0	LGGM	GRCh37	11	77916981	77916981	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	110	6	.	.	ENST00000529308.1:c.1291C>A	p.Arg431=	p.R431=	ENST00000529308	NM_020798.2	431	Cgg/Agg	0	1	1	UPI0000456553	0		ENST00000529308		ENSG00000118369	20061		116			HGNC	p.P15P		USP35		SNV							ENST00000441408	protein_coding			hmmpanther:PTHR24006:SF343,hmmpanther:PTHR24006		R		A		1552/4216				E9PRM2_HUMAN,E9PK78_HUMAN			YES	USP35,synonymous_variant,p.=,ENST00000529308,NM_020798.2;USP35,synonymous_variant,p.=,ENST00000526425,;USP35,synonymous_variant,p.=,ENST00000441408,;USP35,synonymous_variant,p.=,ENST00000528910,;USP35,5_prime_UTR_variant,,ENST00000530267,;USP35,intron_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,upstream_gene_variant,,ENST00000530521,;							LOW	1291/3057		UBP35_HUMAN			Transcript			.	ENSP00000431876		CCDS41693.1			1	
RASAL2	0	LGGM	GRCh37	1	178408612	178408612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	6	.	.	ENST00000367649.3:c.730C>A	p.Pro244Thr	p.P244T	ENST00000367649		244	Cca/Aca	0	1		UPI000012FFF1	0	NA	ENST00000462775		ENSG00000075391	9874		42	1.92		HGNC	p.P226T		RASAL2		SNV							ENST00000448150	protein_coding	getma.org/?cm=var&var=hg19,1,178408612,C,A&fts=all		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF52,SMART_domains:SM00233		P/T		A	medium	411/9156		getma.org/?cm=msa&ty=f&p=NGAP_HUMAN&rb=41&re=158&var=P96T	tolerated(0.08)					RASAL2,missense_variant,p.Pro226Thr,ENST00000448150,NM_170692.2;RASAL2,missense_variant,p.Pro96Thr,ENST00000462775,NM_004841.3;RASAL2,missense_variant,p.Pro244Thr,ENST00000367649,;							MODERATE	286/3420	P96T	NGAP_HUMAN			Transcript		benign(0.357)	.	ENSP00000420558		CCDS1322.1			1	
ACTR3C	0	LGGM	GRCh37	7	149990449	149990449	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	108	6	.	.	ENST00000539352.1:c.105G>T	p.Thr35=	p.T35=	ENST00000539352	NM_001164458.1	35	acG/acT	0	1		UPI000007168D	0		ENST00000252071		ENSG00000106526	37282		114			HGNC	p.T35T		ACTR3C		SNV							ENST00000252071	protein_coding			hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF170,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		T		A		295/1218				C9J580_HUMAN				ACTR3C,synonymous_variant,p.=,ENST00000539352,NM_001164458.1;ACTR3C,synonymous_variant,p.=,ENST00000252071,NM_001164459.1;ACTR3C,synonymous_variant,p.=,ENST00000477871,;ACTR3C,synonymous_variant,p.=,ENST00000477367,;ACTR3C,intron_variant,,ENST00000478393,;							LOW	105/633		ARP3C_HUMAN			Transcript			.	ENSP00000252071		CCDS47744.1			1	
ANKUB1	0	LGGM	GRCh37	3	149488445	149488445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	6	.	.	ENST00000446160.1:c.468G>T	p.Leu156Phe	p.L156F	ENST00000446160	NM_001144960.1	156	ttG/ttT	0	1	1	UPI0000DD7B6F	0	getma.org/pdb.php?prot=ANKUB_HUMAN&from=1&to=200&var=L156F	ENST00000446160		ENSG00000206199	29642		72	2.095		HGNC	p.L156F		ANKUB1		SNV							ENST00000462519	protein_coding	getma.org/?cm=var&var=hg19,3,149488445,C,A&fts=all		hmmpanther:PTHR10666,hmmpanther:PTHR10666:SF111		L/F		A	medium	925/2471		getma.org/?cm=msa&ty=f&p=ANKUB_HUMAN&rb=1&re=200&var=L156F	deleterious(0)	E9PHT4_HUMAN			YES	ANKUB1,missense_variant,p.Leu156Phe,ENST00000446160,NM_001144960.1;ANKUB1,missense_variant,p.Leu156Phe,ENST00000462519,;ANKUB1,missense_variant,p.Leu156Phe,ENST00000383050,;ANKUB1,3_prime_UTR_variant,,ENST00000484019,;							MODERATE	468/1635	L156F				Transcript		probably_damaging(0.974)	.	ENSP00000387907					1	
CACNA1D	0	LGGM	GRCh37	3	53809997	53809997	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	58	6	.	.	ENST00000288139.4:c.4347C>A	p.Pro1449=	p.P1449=	ENST00000288139	NM_000720.3	1449	ccC/ccA	0	1		UPI000013DEF4	0		ENST00000350061		ENSG00000157388	1391		64			HGNC	p.P1414P		CACNA1D		SNV			1				ENST00000422281	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324		P		A		4798/7636								CACNA1D,synonymous_variant,p.=,ENST00000288139,NM_000720.3;CACNA1D,synonymous_variant,p.=,ENST00000350061,NM_001128840.2;CACNA1D,synonymous_variant,p.=,ENST00000422281,NM_001128839.2;CACNA1D,synonymous_variant,p.=,ENST00000481478,;CACNA1D,synonymous_variant,p.=,ENST00000540742,;							LOW	4287/6486		CAC1D_HUMAN			Transcript			.	ENSP00000288133		CCDS46848.1			1	
ZNF638	0	LGGM	GRCh37	2	71615560	71615560	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	133	6	.	.	ENST00000409544.1:c.2378-7711G>T		*793*	ENST00000409544	NM_001252612.1			0	1		UPI000013D51B	0		ENST00000264447		ENSG00000075292	17894		139			HGNC	p.G799W		ZNF638		SNV							ENST00000377802	protein_coding							T		-/6505				Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN				ZNF638,missense_variant,p.Gly799Trp,ENST00000377802,;ZNF638,intron_variant,,ENST00000409544,NM_001252612.1;ZNF638,intron_variant,,ENST00000264447,NM_001014972.2,NM_014497.4,NM_001252613.1;ZNF638,intron_variant,,ENST00000355812,;ZNF638,intron_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000491843,;							MODIFIER	-/5937		ZN638_HUMAN			Transcript			.	ENSP00000264447		CCDS1917.1			1	
CACNA1D	0	LGGM	GRCh37	3	53777143	53777143	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	6	.	.	ENST00000288139.4:c.2977C>A	p.Gln993Lys	p.Q993K	ENST00000288139	NM_000720.3	993	Caa/Aaa	0	1		UPI000013DEF4	0	getma.org/pdb.php?prot=CAC1D_HUMAN&from=921&to=1151&var=Q973K	ENST00000350061		ENSG00000157388	1391		73	1.07		HGNC	p.Q973K		CACNA1D		SNV			1				ENST00000422281	protein_coding	getma.org/?cm=var&var=hg19,3,53777143,C,A&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139,Superfamily_domains:SSF81324		Q/K		A	low	3428/7636		getma.org/?cm=msa&ty=f&p=CAC1D_HUMAN&rb=921&re=1151&var=Q973K	tolerated(0.11)					CACNA1D,missense_variant,p.Gln993Lys,ENST00000288139,NM_000720.3;CACNA1D,missense_variant,p.Gln973Lys,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Gln973Lys,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Gln666Lys,ENST00000481478,;							MODERATE	2917/6486	Q973K	CAC1D_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000288133		CCDS46848.1			1	
WDSUB1	0	LGGM	GRCh37	2	160112852	160112852	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	6	.	.	ENST00000409990.3:c.987C>A	p.Thr329=	p.T329=	ENST00000409990	NM_001128213.1	329	acC/acA	0	1		UPI0000141898	0		ENST00000359774		ENSG00000196151	26697		82			HGNC	p.T329T		WDSUB1		SNV							ENST00000409990	protein_coding			Gene3D:1.10.150.50,hmmpanther:PTHR22849,hmmpanther:PTHR22849:SF0,SMART_domains:SM00454		T		T		1228/1912								WDSUB1,synonymous_variant,p.=,ENST00000409990,NM_001128213.1;WDSUB1,synonymous_variant,p.=,ENST00000359774,NM_001128212.1;WDSUB1,synonymous_variant,p.=,ENST00000392796,NM_152528.2;WDSUB1,synonymous_variant,p.=,ENST00000409124,;WDSUB1,synonymous_variant,p.=,ENST00000358147,;							LOW	987/1431		WSDU1_HUMAN			Transcript			.	ENSP00000352820		CCDS2208.1			1	
NBPF9	0	LGGM	GRCh37	1	144814742	144814742	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000375552.4:c.376G>T	p.Arg126Leu	p.R126L	ENST00000375552	NM_001277444.1	126	cGg/cTg	0	1	1	UPI000059D038	0		ENST00000375552		ENSG00000168614	31991		96			HGNC	p.R127L	rs587768291	NBPF9		SNV							ENST00000338347	protein_coding		A:0	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199		R/L		T		376/3680	1.52E-05		deleterious(0.04)	Q5TB04_HUMAN,I1VE14_HUMAN	A:0	A:0	YES	NBPF9,missense_variant,p.Arg126Leu,ENST00000375552,NM_001277444.1,NM_001037675.3;NBPF9,missense_variant,p.Arg127Leu,ENST00000440491,;NBPF9,missense_variant,p.Arg127Leu,ENST00000338347,;NBPF9,5_prime_UTR_variant,,ENST00000281815,;NBPF9,non_coding_transcript_exon_variant,,ENST00000468645,;NBPF9,non_coding_transcript_exon_variant,,ENST00000496755,;NBPF9,non_coding_transcript_exon_variant,,ENST00000491652,;NBPF9,non_coding_transcript_exon_variant,,ENST00000471873,;NBPF9,non_coding_transcript_exon_variant,,ENST00000483630,;NBPF9,non_coding_transcript_exon_variant,,ENST00000465793,;NBPF9,upstream_gene_variant,,ENST00000472811,;NBPF9,upstream_gene_variant,,ENST00000484811,;		A:0.0004					MODERATE	377/2052				A:0	Transcript		probably_damaging(0.969)	.	ENSP00000364702	8.27E-06			A:0.002	1	
CAMSAP2	0	LGGM	GRCh37	1	200822529	200822529	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	80	6	.	.	ENST00000358823.2:c.3729C>A	p.Pro1243=	p.P1243=	ENST00000358823	NM_203459.1	1243	ccC/ccA	0	1		UPI0000160246	0		ENST00000236925		ENSG00000118200	29188		86			HGNC	p.P1243P		CAMSAP2		SNV							ENST00000358823	protein_coding			hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1,Low_complexity_(Seg):seg		P		A		3811/7161				B3KX64_HUMAN				CAMSAP2,synonymous_variant,p.=,ENST00000358823,NM_203459.1;CAMSAP2,synonymous_variant,p.=,ENST00000236925,;CAMSAP2,synonymous_variant,p.=,ENST00000413307,;CAMSAP2,upstream_gene_variant,,ENST00000475326,;CAMSAP2,3_prime_UTR_variant,,ENST00000447701,;							LOW	3762/4470		CAMP2_HUMAN			Transcript			.	ENSP00000236925					1	
SQLE	0	LGGM	GRCh37	8	126030441	126030441	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	128	6	.	.	ENST00000265896.5:c.1345G>T	p.Glu449Ter	p.E449*	ENST00000265896	NM_003129.3	449	Gag/Tag	0	1	1	UPI0000073EEE	0	NA	ENST00000265896		ENSG00000104549	11279		134	0		HGNC	p.E449X		SQLE		SNV							ENST00000265896	protein_coding	getma.org/?cm=var&var=hg19,8,126030441,G,T&fts=all		Pfam_domain:PF08491,hmmpanther:PTHR10835,Superfamily_domains:SSF51905		E/*		T	NA	2243/2961		NA		Q9UNR6_HUMAN,H0YBN7_HUMAN,B4DHX0_HUMAN			YES	SQLE,stop_gained,p.Glu449Ter,ENST00000265896,NM_003129.3;SQLE,stop_gained,p.Glu354Ter,ENST00000523430,;SQLE,stop_gained,p.Glu101Ter,ENST00000518931,;SQLE,splice_region_variant,,ENST00000518604,;SQLE,downstream_gene_variant,,ENST00000520493,;							HIGH	1345/1725	E449*	ERG1_HUMAN			Transcript			.	ENSP00000265896		CCDS47918.1			1	
NELFCD	0	LGGM	GRCh37	20	57561220	57561220	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	93	6	.	.	ENST00000602795.1:c.187C>A	p.Arg63=	p.R63=	ENST00000602795	NM_198976.2	63	Cgg/Agg	0	1	1	UPI0000D4E339	0		ENST00000602795		ENSG00000101158	15934		99			HGNC	p.R54R		NELFCD		SNV							ENST00000460601	protein_coding			hmmpanther:PTHR12144,hmmpanther:PTHR12144:SF0,Pfam_domain:PF04858		R		A		235/2305				H0UI80_HUMAN			YES	NELFCD,synonymous_variant,p.=,ENST00000602795,NM_198976.2;NELFCD,synonymous_variant,p.=,ENST00000344018,;NELFCD,upstream_gene_variant,,ENST00000497935,;NELFCD,synonymous_variant,p.=,ENST00000460601,;NELFCD,non_coding_transcript_exon_variant,,ENST00000482747,;NELFCD,non_coding_transcript_exon_variant,,ENST00000471621,;NELFCD,non_coding_transcript_exon_variant,,ENST00000464363,;NELFCD,non_coding_transcript_exon_variant,,ENST00000492016,;NELFCD,upstream_gene_variant,,ENST00000478389,;NELFCD,upstream_gene_variant,,ENST00000477741,;NELFCD,upstream_gene_variant,,ENST00000474543,;NELFCD,upstream_gene_variant,,ENST00000490205,;							LOW	187/1800					Transcript			.	ENSP00000473290		CCDS13473.2			1	
PTPN4	0	LGGM	GRCh37	2	120714604	120714604	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	6	.	.	ENST00000263708.2:c.2084G>T	p.Arg695Leu	p.R695L	ENST00000263708	NM_002830.3	695	cGg/cTg	0	1	1	UPI0000000CA9	0	getma.org/pdb.php?prot=PTN4_HUMAN&from=679&to=910&var=R695L	ENST00000263708		ENSG00000088179	9656		94	3.5		HGNC	p.R695L	COSM202470	PTPN4		SNV						1	ENST00000263708	protein_coding	getma.org/?cm=var&var=hg19,2,120714604,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000927,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF187,SMART_domains:SM00194,Superfamily_domains:SSF52799		R/L		T	medium	2855/10300		getma.org/?cm=msa&ty=f&p=PTN4_HUMAN&rb=679&re=910&var=R695L	deleterious(0)	Q580X3_HUMAN,Q53QV5_HUMAN,Q53Q76_HUMAN,Q4ZG31_HUMAN,J3KQP5_HUMAN,F5H1A0_HUMAN			YES	PTPN4,missense_variant,p.Arg695Leu,ENST00000263708,NM_002830.3;PTPN4,missense_variant,p.Arg328Leu,ENST00000544261,;PTPN4,upstream_gene_variant,,ENST00000441089,;PTPN4,3_prime_UTR_variant,,ENST00000430976,;PTPN4,upstream_gene_variant,,ENST00000469511,;					1		MODERATE	2084/2781	R695L	PTN4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263708		CCDS2129.1			1	
NECAP1	0	LGGM	GRCh37	12	8245544	8245544	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	110	6	.	.	ENST00000339754.5:c.569C>A	p.Pro190Gln	p.P190Q	ENST00000339754	NM_015509.3	190	cCg/cAg	0	1	1	UPI000006EB8D	0	NA	ENST00000339754		ENSG00000089818	24539		116	2.66		HGNC	p.P48Q		NECAP1		SNV			1				ENST00000540083	protein_coding	getma.org/?cm=var&var=hg19,12,8245544,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1		P/Q		A	medium	647/2587		getma.org/?cm=msa&ty=f&p=NECP1_HUMAN&rb=166&re=275&var=P190Q	deleterious(0)	F5H2U7_HUMAN,A8K3C2_HUMAN			YES	NECAP1,missense_variant,p.Pro190Gln,ENST00000339754,NM_015509.3;NECAP1,missense_variant,p.Pro48Gln,ENST00000540083,;NECAP1,3_prime_UTR_variant,,ENST00000450991,;NECAP1,3_prime_UTR_variant,,ENST00000541948,;NECAP1,non_coding_transcript_exon_variant,,ENST00000537796,;NECAP1,downstream_gene_variant,,ENST00000545807,;NECAP1,downstream_gene_variant,,ENST00000544891,;NECAP1,downstream_gene_variant,,ENST00000546181,;NECAP1,downstream_gene_variant,,ENST00000542095,;							MODERATE	569/828	P190Q	NECP1_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000341737		CCDS8589.1			1	
PRPF4B	0	LGGM	GRCh37	6	4032820	4032820	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	103	6	.	.	ENST00000337659.6:c.1069C>A	p.Pro357Thr	p.P357T	ENST00000337659	NM_003913.4	357	Cca/Aca	0	1	1	UPI000013DD12	0	NA	ENST00000337659		ENSG00000112739	17346		109	1.445		HGNC	p.P357T		PRPF4B		SNV							ENST00000337659	protein_coding	getma.org/?cm=var&var=hg19,6,4032820,C,A&fts=all		Low_complexity_(Seg):seg		P/T		A	low	1169/4415		getma.org/?cm=msa&ty=f&p=PRP4B_HUMAN&rb=91&re=498&var=P357T	deleterious_low_confidence(0.01)	H0YDJ3_HUMAN,F5H2U2_HUMAN			YES	PRPF4B,missense_variant,p.Pro357Thr,ENST00000337659,NM_003913.4;PRPF4B,missense_variant,p.Pro343Thr,ENST00000538861,;PRPF4B,missense_variant,p.Pro357Thr,ENST00000480058,;PRPF4B,upstream_gene_variant,,ENST00000481109,;							MODERATE	1069/3024	P357T	PRP4B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000337194		CCDS4488.1			1	
SYNM	0	LGGM	GRCh37	15	99672559	99672559	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	48	6	.	.	ENST00000336292.6:c.3991C>A	p.Gln1331Lys	p.Q1331K	ENST00000336292	NM_145728.2	1331	Caa/Aaa	0	1	1	UPI00001B03B3	0		ENST00000336292		ENSG00000182253	24466		54			HGNC	p.Q1331K		SYNM		SNV							ENST00000336292	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93		Q/K		A		4111/7322			tolerated(0.25)				YES	SYNM,missense_variant,p.Gln1331Lys,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,;							MODERATE	3991/4695		SYNEM_HUMAN			Transcript		benign(0.022)	.	ENSP00000336775					1	
ATXN2	0	LGGM	GRCh37	12	111923570	111923570	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	21	6	.	.	ENST00000377617.3:c.2884G>T	p.Val962Phe	p.V962F	ENST00000377617	NM_002973.3	962	Gtt/Ttt	0	1	1	UPI0000DBEEFC	0	NA	ENST00000377617		ENSG00000204842	10555		27	0.895		HGNC	p.V673F		ATXN2		SNV			1				ENST00000535949	protein_coding	getma.org/?cm=var&var=hg19,12,111923570,C,A&fts=all		hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11		V/F		A	low	3046/4702		getma.org/?cm=msa&ty=f&p=ATX2_HUMAN&rb=927&re=1126&var=V962F		D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN			YES	ATXN2,missense_variant,p.Val962Phe,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Val962Phe,ENST00000550104,;ATXN2,missense_variant,p.Val802Phe,ENST00000608853,;ATXN2,missense_variant,p.Val697Phe,ENST00000389153,;ATXN2,missense_variant,p.Val697Phe,ENST00000542287,;ATXN2,missense_variant,p.Val673Phe,ENST00000535949,;ATXN2,missense_variant,p.Val101Phe,ENST00000389154,;ATXN2,downstream_gene_variant,,ENST00000492467,;AC002395.1,downstream_gene_variant,,ENST00000581907,;ATXN2,missense_variant,p.Val883Phe,ENST00000483311,;ATXN2,missense_variant,p.Val56Phe,ENST00000551755,;ATXN2,non_coding_transcript_exon_variant,,ENST00000495342,;ATXN2,non_coding_transcript_exon_variant,,ENST00000552323,;ATXN2,downstream_gene_variant,,ENST00000546483,;							MODERATE	2884/3942	V962F	ATX2_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000366843		CCDS31902.1			1	
BCAM	0	LGGM	GRCh37	19	45322407	45322407	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	74	6	.	.	ENST00000270233.6:c.1431C>A	p.Gly477=	p.G477=	ENST00000270233	NM_005581.4	477	ggC/ggA	0	1	1	UPI0000190806	0		ENST00000270233		ENSG00000187244	6722		80			HGNC	p.G477G		BCAM		SNV			1				ENST00000391955	protein_coding			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		G		A		1453/2402				A9YWT4_HUMAN			YES	BCAM,synonymous_variant,p.=,ENST00000589651,;BCAM,synonymous_variant,p.=,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,;							LOW	1431/1887		BCAM_HUMAN			Transcript			.	ENSP00000270233		CCDS12644.1			1	
TBC1D23	0	LGGM	GRCh37	3	100015103	100015103	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	112	6	.	.	ENST00000394144.4:c.860C>A	p.Pro287Gln	p.P287Q	ENST00000394144	NM_001199198.2	287	cCg/cAg	0	1	1	UPI000013D5E5	0	NA	ENST00000394144		ENSG00000036054	25622		118	2.395		HGNC	p.P287Q		TBC1D23		SNV							ENST00000344949	protein_coding	getma.org/?cm=var&var=hg19,3,100015103,C,A&fts=all		hmmpanther:PTHR13297		P/Q		A	medium	867/3677		getma.org/?cm=msa&ty=f&p=TBC23_HUMAN&rb=247&re=323&var=P287Q	deleterious(0)	B3KS68_HUMAN			YES	TBC1D23,missense_variant,p.Pro287Gln,ENST00000394144,NM_001199198.2;TBC1D23,missense_variant,p.Pro287Gln,ENST00000344949,NM_018309.4;TBC1D23,missense_variant,p.Pro150Gln,ENST00000475134,;TBC1D23,non_coding_transcript_exon_variant,,ENST00000486274,;							MODERATE	860/2100	P287Q	TBC23_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377700		CCDS56265.1			1	
ZNF669	0	LGGM	GRCh37	1	247264533	247264533	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	144	6	.	.	ENST00000343381.6:c.538G>T	p.Glu180Ter	p.E180*	ENST00000343381	NM_024804.2	180	Gag/Tag	0	1	1	UPI000013E1E0	0	NA	ENST00000343381		ENSG00000188295	25736		150	0		HGNC	p.E180X		ZNF669		SNV							ENST00000343381	protein_coding	getma.org/?cm=var&var=hg19,1,247264533,C,A&fts=all		Superfamily_domains:SSF57667,hmmpanther:PTHR24381:SF127,hmmpanther:PTHR24381		E/*		A	NA	711/1951		NA					YES	ZNF669,stop_gained,p.Glu180Ter,ENST00000343381,NM_024804.2;ZNF669,stop_gained,p.Glu94Ter,ENST00000448299,NM_001142572.1;ZNF669,3_prime_UTR_variant,,ENST00000358785,;ZNF669,3_prime_UTR_variant,,ENST00000366501,;ZNF669,3_prime_UTR_variant,,ENST00000366500,;ZNF669,downstream_gene_variant,,ENST00000476158,;							HIGH	538/1395	E180*	ZN669_HUMAN			Transcript			.	ENSP00000342818		CCDS31088.1			1	
MRPS31	0	LGGM	GRCh37	13	41341046	41341046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	108	6	.	.	ENST00000323563.6:c.276G>T	p.Lys92Asn	p.K92N	ENST00000323563	NM_005830.3	92	aaG/aaT	0	1	1	UPI000013D1D3	0	NA	ENST00000323563		ENSG00000102738	16632		114	1.7		HGNC	p.K92N		MRPS31		SNV							ENST00000323563	protein_coding	getma.org/?cm=var&var=hg19,13,41341046,C,A&fts=all		hmmpanther:PTHR13231,Low_complexity_(Seg):seg		K/N		A	low	313/1293		getma.org/?cm=msa&ty=f&p=RT31_HUMAN&rb=50&re=393&var=K92N	tolerated(0.07)				YES	MRPS31,missense_variant,p.Lys92Asn,ENST00000323563,NM_005830.3;MRPS31,non_coding_transcript_exon_variant,,ENST00000435009,;							MODERATE	276/1188	K92N	RT31_HUMAN			Transcript		benign(0.082)	.	ENSP00000315397		CCDS9372.1			1	
KDM1B	0	LGGM	GRCh37	6	18191547	18191547	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	61	6	.	.	ENST00000297792.5:c.573+5506C>A		*191*	ENST00000297792				0	1	1	UPI000023739E	0		ENST00000297792		ENSG00000165097	21577		67			HGNC	p.R302R		KDM1B		SNV							ENST00000388870	protein_coding							A		-/3811				Q08EI0_HUMAN			YES	KDM1B,synonymous_variant,p.=,ENST00000388870,;KDM1B,synonymous_variant,p.=,ENST00000449850,;KDM1B,intron_variant,,ENST00000397244,NM_153042.3;KDM1B,intron_variant,,ENST00000297792,;KDM1B,intron_variant,,ENST00000546309,;							MODIFIER	-/1773		KDM1B_HUMAN			Transcript			.	ENSP00000297792		CCDS34343.1			1	
MTR	0	LGGM	GRCh37	1	236979790	236979790	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	6	.	.	ENST00000366577.5:c.711C>A	p.Ser237=	p.S237=	ENST00000366577	NM_000254.2	237	tcC/tcA	0	1	1	UPI0000036BC4	0		ENST00000366577		ENSG00000116984	7468		78			HGNC	p.S237S		MTR		SNV			1				ENST00000535889	protein_coding			Superfamily_domains:SSF82282,PIRSF_domain:PIRSF000381,Pfam_domain:PF02574,TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.330,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS50970		S		A		1105/10529							YES	MTR,synonymous_variant,p.=,ENST00000366577,NM_000254.2;MTR,synonymous_variant,p.=,ENST00000535889,;MTR,3_prime_UTR_variant,,ENST00000418145,;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;RP11-182B22.2,upstream_gene_variant,,ENST00000414293,;							LOW	711/3798		METH_HUMAN			Transcript			.	ENSP00000355536		CCDS1614.1			1	
CCDC59	0	LGGM	GRCh37	12	82750838	82750838	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	80	6	.	.	ENST00000256151.7:c.365C>A	p.Pro122Gln	p.P122Q	ENST00000256151	NM_014167.4	122	cCg/cAg	0	1	1	UPI0000034DFE	0	NA	ENST00000256151		ENSG00000133773	25005		86	0		HGNC	p.P122Q		CCDC59		SNV							ENST00000256151	protein_coding	getma.org/?cm=var&var=hg19,12,82750838,G,T&fts=all		hmmpanther:PTHR15657:SF1,hmmpanther:PTHR15657		P/Q		T	neutral	777/1983		getma.org/?cm=msa&ty=f&p=TAP26_HUMAN&rb=1&re=135&var=P122Q	tolerated(0.11)				YES	CCDC59,missense_variant,p.Pro122Gln,ENST00000256151,NM_014167.4;CCDC59,missense_variant,p.Pro122Gln,ENST00000552377,;METTL25,upstream_gene_variant,,ENST00000248306,NM_032230.2;METTL25,upstream_gene_variant,,ENST00000548200,;METTL25,upstream_gene_variant,,ENST00000550058,;CCDC59,non_coding_transcript_exon_variant,,ENST00000548126,;METTL25,upstream_gene_variant,,ENST00000547357,;METTL25,upstream_gene_variant,,ENST00000548569,;METTL25,upstream_gene_variant,,ENST00000547985,;CCDC59,downstream_gene_variant,,ENST00000552412,;CCDC59,non_coding_transcript_exon_variant,,ENST00000552606,;CCDC59,non_coding_transcript_exon_variant,,ENST00000547758,;CCDC59,upstream_gene_variant,,ENST00000550589,;							MODERATE	365/726	P122Q	TAP26_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000256151		CCDS9023.1			1	
SEMA3C	0	LGGM	GRCh37	7	80546087	80546087	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	6	.	.	ENST00000265361.3:c.11G>T	p.Arg4Leu	p.R4L	ENST00000265361	NM_006379.3	4	cGg/cTg	0	1	1	UPI000011C137	0	NA	ENST00000265361		ENSG00000075223	10725		97	0		HGNC	p.R4L		SEMA3C		SNV			1				ENST00000458729	protein_coding	getma.org/?cm=var&var=hg19,7,80546087,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036		R/L		A	neutral	573/5174		getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=1&re=53&var=R4L	tolerated(0.34)	Q75MX0_HUMAN,Q75L25_HUMAN			YES	SEMA3C,missense_variant,p.Arg4Leu,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Arg22Leu,ENST00000544525,;SEMA3C,missense_variant,p.Arg4Leu,ENST00000419255,;SEMA3C,5_prime_UTR_variant,,ENST00000536800,;SEMA3C,non_coding_transcript_exon_variant,,ENST00000487621,;SEMA3C,non_coding_transcript_exon_variant,,ENST00000470581,;SEMA3C,missense_variant,p.Arg4Leu,ENST00000458729,;SEMA3C,missense_variant,p.Arg4Leu,ENST00000427167,;SEMA3C,missense_variant,p.Arg4Leu,ENST00000411788,;							MODERATE	Nov-56	R4L	SEM3C_HUMAN			Transcript		benign(0)	.	ENSP00000265361		CCDS5596.1			1	
AKR1D1	0	LGGM	GRCh37	7	137790144	137790144	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	6	.	.	ENST00000242375.3:c.548C>A	p.Pro183Gln	p.P183Q	ENST00000242375	NM_005989.3	183	cCa/cAa	0	1	1	UPI0000125764	0	getma.org/pdb.php?prot=AK1D1_HUMAN&from=20&to=304&var=P183Q	ENST00000242375		ENSG00000122787	388		97	1.77		HGNC	p.P183Q		AKR1D1		SNV			1				ENST00000242375	protein_coding	getma.org/?cm=var&var=hg19,7,137790144,C,A&fts=all		hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430		P/Q		A	low	590/2347		getma.org/?cm=msa&ty=f&p=AK1D1_HUMAN&rb=20&re=304&var=P183Q	deleterious(0)	C4PL35_HUMAN			YES	AKR1D1,missense_variant,p.Pro183Gln,ENST00000242375,NM_005989.3;AKR1D1,missense_variant,p.Pro183Gln,ENST00000432161,NM_001190907.1;AKR1D1,intron_variant,,ENST00000411726,NM_001190906.1;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;							MODERATE	548/981	P183Q	AK1D1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000242375		CCDS5846.1			1	
OR2G2	0	LGGM	GRCh37	1	247752141	247752141	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000320065.1:c.480G>T	p.Leu160=	p.L160=	ENST00000320065	NM_001001915.1	160	ctG/ctT	0	1	1	UPI0000061EB9	0		ENST00000320065		ENSG00000177489	15007		92			HGNC	p.L160L		OR2G2		SNV							ENST00000320065	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L		T		480/954							YES	OR2G2,synonymous_variant,p.=,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;							LOW	480/954		OR2G2_HUMAN			Transcript			.	ENSP00000326349		CCDS31092.1			1	
DYRK2	0	LGGM	GRCh37	12	68052359	68052359	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	6	.	.	ENST00000344096.3:c.1672G>T	p.Gly558Cys	p.G558C	ENST00000344096	NM_006482.2	558	Ggt/Tgt	0	1	1	UPI000006E92B	0	NA	ENST00000344096		ENSG00000127334	3093		97	1.5		HGNC	p.G485C	COSM3359901	DYRK2		SNV						1	ENST00000393555	protein_coding	getma.org/?cm=var&var=hg19,12,68052359,G,T&fts=all		hmmpanther:PTHR24058:SF51,hmmpanther:PTHR24058		G/C		T	low	2085/8912		getma.org/?cm=msa&ty=f&p=DYRK2_HUMAN&rb=536&re=601&var=G558C	deleterious(0.01)	G8JLB4_HUMAN,F5GXG1_HUMAN			YES	DYRK2,missense_variant,p.Gly558Cys,ENST00000344096,NM_006482.2;DYRK2,missense_variant,p.Gly485Cys,ENST00000393555,NM_003583.3;DYRK2,downstream_gene_variant,,ENST00000543747,;DYRK2,downstream_gene_variant,,ENST00000319833,;DYRK2,downstream_gene_variant,,ENST00000542503,;RP11-335O4.3,downstream_gene_variant,,ENST00000425371,;					1		MODERATE	1672/1806	G558C	DYRK2_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000342105		CCDS8978.1			1	
RARRES1	0	LGGM	GRCh37	3	158428614	158428614	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	6	.	.	ENST00000237696.5:c.448G>T	p.Glu150Ter	p.E150*	ENST00000237696	NM_206963.1	150	Gag/Tag	0	1	1	UPI000006E088	0	NA	ENST00000237696		ENSG00000118849	9867		75	0		HGNC	p.E150X		RARRES1		SNV							ENST00000479756	protein_coding	getma.org/?cm=var&var=hg19,3,158428614,C,A&fts=all		Pfam_domain:PF06907,Gene3D:3.10.450.10,PIRSF_domain:PIRSF500784,PIRSF_domain:PIRSF011132,Superfamily_domains:SSF54403		E/*		A	NA	729/1952		NA					YES	RARRES1,stop_gained,p.Glu150Ter,ENST00000237696,NM_206963.1;RARRES1,stop_gained,p.Glu150Ter,ENST00000479756,NM_002888.2;RARRES1,non_coding_transcript_exon_variant,,ENST00000462663,;RARRES1,intron_variant,,ENST00000498640,;							HIGH	448/885	E150*	TIG1_HUMAN			Transcript			.	ENSP00000237696		CCDS3184.1			1	
TTN	0	LGGM	GRCh37	2	179442548	179442548	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	131	6	.	.	ENST00000589042.1:c.68605G>T	p.Gly22869Cys	p.G22869C	ENST00000589042	NM_001267550.1	22869	Ggt/Tgt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=21202&to=21288&var=G21228C	ENST00000591111		ENSG00000155657	12403		137	4.41		HGNC	p.G21228C		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179442548,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/C		A	high	63907/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=21202&re=21288&var=G21228C		C9JQJ2_HUMAN				TTN,missense_variant,p.Gly22869Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gly21228Cys,ENST00000591111,;TTN,missense_variant,p.Gly20301Cys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Gly13996Cys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Gly13929Cys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Gly13804Cys,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,;							MODERATE	63682/103053	G21228C	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
AKR7A2	0	LGGM	GRCh37	1	19630742	19630742	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	6	.	.	ENST00000235835.3:c.1057G>A	p.Glu353Lys	p.E353K	ENST00000235835	NM_003689.3	353	Gaa/Aaa	0	1	1	UPI00001D965B	0	getma.org/pdb.php?prot=ARK72_HUMAN&from=349&to=359&var=E353K	ENST00000235835		ENSG00000053371	389		38	2.25		HGNC	p.E308K		AKR7A2		SNV							ENST00000330072	protein_coding	getma.org/?cm=var&var=hg19,1,19630742,C,T&fts=all		Gene3D:3.20.20.100,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF157,Superfamily_domains:SSF51430		E/K		T	medium	1079/1362		getma.org/?cm=msa&ty=f&p=ARK72_HUMAN&rb=319&re=359&var=E353K	tolerated(0.33)				YES	AKR7A2,missense_variant,p.Glu353Lys,ENST00000235835,NM_003689.3;AKR7A2,missense_variant,p.Glu308Lys,ENST00000330072,;AKR7A2,3_prime_UTR_variant,,ENST00000489286,;RNU6-1099P,downstream_gene_variant,,ENST00000363533,;AKR7A2,downstream_gene_variant,,ENST00000492217,;AKR7A2,downstream_gene_variant,,ENST00000481966,;							MODERATE	1057/1080	E353K	ARK72_HUMAN			Transcript		benign(0.003)	.	ENSP00000235835		CCDS194.1			1	
MUC16	0	LGGM	GRCh37	19	9062824	9062824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	93	6	.	.	ENST00000397910.4:c.24622G>T	p.Gly8208Trp	p.G8208W	ENST00000397910	NM_024690.2	8208	Ggg/Tgg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		99	0.695		HGNC	p.G8208W		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9062824,C,A&fts=all				G/W		A	neutral	24826/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=8120&re=8294&var=G8210W		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Gly8208Trp,ENST00000397910,NM_024690.2;							MODERATE	24622/43524	G8210W				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
FANCM	0	LGGM	GRCh37	14	45644842	45644842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	72	6	.	.	ENST00000267430.5:c.2885C>A	p.Pro962Gln	p.P962Q	ENST00000267430	NM_020937.2	962	cCa/cAa	0	1	1	UPI000059F032	0	NA	ENST00000267430		ENSG00000187790	23168		78	1.67		HGNC	p.P962Q		FANCM		SNV			1				ENST00000267430	protein_coding	getma.org/?cm=var&var=hg19,14,45644842,C,A&fts=all		hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		P/Q		A	low	2970/7111		getma.org/?cm=msa&ty=f&p=FANCM_HUMAN&rb=795&re=1428&var=P962Q	deleterious(0.04)				YES	FANCM,missense_variant,p.Pro962Gln,ENST00000267430,NM_020937.2;FANCM,missense_variant,p.Pro936Gln,ENST00000542564,;FANCM,missense_variant,p.Pro478Gln,ENST00000556250,;FANCM,upstream_gene_variant,,ENST00000554809,;							MODERATE	2885/6147	P962Q	FANCM_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000267430		CCDS32070.1			1	
MCTP1	0	LGGM	GRCh37	5	94353102	94353102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	89	6	.	.	ENST00000515393.1:c.807G>T	p.Arg269Ser	p.R269S	ENST00000515393	NM_024717.4	269	agG/agT	0	1	1	UPI0000D6165C	0	getma.org/pdb.php?prot=MCTP1_HUMAN&from=263&to=344&var=R269S	ENST00000515393		ENSG00000175471	26183		95	0.67		HGNC	p.R269S	rs756723919	MCTP1	6.06E-05	SNV							ENST00000515393	protein_coding	getma.org/?cm=var&var=hg19,5,94353102,C,A&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122,PROSITE_profiles:PS50004		R/S		A	neutral	807/5396		getma.org/?cm=msa&ty=f&p=MCTP1_HUMAN&rb=263&re=344&var=R269S	tolerated(0.08)	E5RJR1_HUMAN			YES	MCTP1,missense_variant,p.Arg269Ser,ENST00000515393,NM_024717.4;MCTP1,missense_variant,p.Arg48Ser,ENST00000429576,;MCTP1,missense_variant,p.Arg48Ser,ENST00000312216,NM_001002796.2;MCTP1,missense_variant,p.Arg48Ser,ENST00000508509,;MCTP1,missense_variant,p.Arg48Ser,ENST00000505208,;MCTP1,missense_variant,p.Arg29Ser,ENST00000514780,;MCTP1,missense_variant,p.Arg78Ser,ENST00000503301,;MCTP1,missense_variant,p.Arg30Ser,ENST00000507214,;MCTP1,missense_variant,p.Arg63Ser,ENST00000510732,;MCTP1,missense_variant,p.Arg48Ser,ENST00000505465,;MCTP1,intron_variant,,ENST00000512425,;MCTP1,non_coding_transcript_exon_variant,,ENST00000513857,;MCTP1,non_coding_transcript_exon_variant,,ENST00000513695,;							MODERATE	807/3000	R269S	MCTP1_HUMAN			Transcript		benign(0.129)	.	ENSP00000424126	8.24E-06	CCDS34203.1			1	
ANK2	0	LGGM	GRCh37	4	114179219	114179219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	6	.	.	ENST00000357077.4:c.1202C>A	p.Pro401Gln	p.P401Q	ENST00000357077	NM_001148.4	401	cCa/cAa	0	1	1	UPI0000441EF3	0	getma.org/pdb.php?prot=ANK2_HUMAN&from=397&to=429&var=P401Q	ENST00000357077		ENSG00000145362	493		81	3.635		HGNC	p.P401Q	COSM387478	ANK2		SNV			1			1	ENST00000394537	protein_coding	getma.org/?cm=var&var=hg19,4,114179219,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF13637,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00248,Superfamily_domains:SSF48403		P/Q		A	high	1255/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=397&re=429&var=P401Q		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Pro401Gln,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Pro401Gln,ENST00000264366,;ANK2,missense_variant,p.Pro380Gln,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Pro401Gln,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Pro416Gln,ENST00000504454,;ANK2,missense_variant,p.Pro380Gln,ENST00000503423,;ANK2,missense_variant,p.Pro380Gln,ENST00000503271,;					1		MODERATE	1202/11874	P401Q	ANK2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349588		CCDS3702.1			1	
LINGO2	0	LGGM	GRCh37	9	27949928	27949928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	70	6	.	.	ENST00000379992.2:c.742G>T	p.Gly248Cys	p.G248C	ENST00000379992	NM_152570.2	248	Ggt/Tgt	0	1		UPI000004C7CD	0	getma.org/pdb.php?prot=LIGO2_HUMAN&from=166&to=248&var=G248C	ENST00000308675		ENSG00000174482	21207		76	3.84		HGNC	p.G248C		LINGO2		SNV							ENST00000379992	protein_coding	getma.org/?cm=var&var=hg19,9,27949928,C,A&fts=all		hmmpanther:PTHR24373:SF38,hmmpanther:PTHR24373,Superfamily_domains:SSF52058		G/C		A	high	1000/2368		getma.org/?cm=msa&ty=f&p=LIGO2_HUMAN&rb=166&re=248&var=G248C	deleterious(0)					LINGO2,missense_variant,p.Gly248Cys,ENST00000379992,NM_152570.2;LINGO2,missense_variant,p.Gly248Cys,ENST00000308675,;							MODERATE	742/1821	G248C	LIGO2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310126		CCDS6524.1			1	
SSR2	0	LGGM	GRCh37	1	155981652	155981652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	6	.	.	ENST00000295702.4:c.390G>T	p.Gln130His	p.Q130H	ENST00000295702	NM_003145.3	130	caG/caT	0	1	1	UPI0000136002	0	NA	ENST00000295702		ENSG00000163479	11324		82	1.15		HGNC	p.R61M		SSR2		SNV							ENST00000496742	protein_coding	getma.org/?cm=var&var=hg19,1,155981652,C,A&fts=all		hmmpanther:PTHR12861,Pfam_domain:PF05753,PIRSF_domain:PIRSF016400		Q/H		A	low	462/1116		getma.org/?cm=msa&ty=f&p=SSRB_HUMAN&rb=1&re=181&var=Q130H	deleterious(0.01)	E9PQI4_HUMAN,E9PQ05_HUMAN,B4DUJ9_HUMAN			YES	SSR2,missense_variant,p.Gln130His,ENST00000295702,NM_003145.3;SSR2,missense_variant,p.Gln130His,ENST00000480567,;SSR2,missense_variant,p.Arg61Met,ENST00000496742,;SSR2,missense_variant,p.Gln130His,ENST00000531917,;SSR2,intron_variant,,ENST00000529008,;ARHGEF2,upstream_gene_variant,,ENST00000423422,;SSR2,3_prime_UTR_variant,,ENST00000473699,;SSR2,3_prime_UTR_variant,,ENST00000466905,;SSR2,3_prime_UTR_variant,,ENST00000474377,;SSR2,3_prime_UTR_variant,,ENST00000531790,;SSR2,non_coding_transcript_exon_variant,,ENST00000368311,;SSR2,non_coding_transcript_exon_variant,,ENST00000472467,;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,;							MODERATE	390/552	Q130H	SSRB_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000295702		CCDS1126.1			1	
CNTN5	0	LGGM	GRCh37	11	99786879	99786879	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	6	.	.	ENST00000524871.1:c.671C>A	p.Pro224Gln	p.P224Q	ENST00000524871	NM_014361.3	224	cCa/cAa	0	1	1	UPI000006DAB0	0	getma.org/pdb.php?prot=CNTN5_HUMAN&from=200&to=289&var=P224Q	ENST00000524871		ENSG00000149972	2175		84	2.41		HGNC	p.P224Q		CNTN5		SNV							ENST00000279463	protein_coding	getma.org/?cm=var&var=hg19,11,99786879,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/Q		A	medium	961/6258		getma.org/?cm=msa&ty=f&p=CNTN5_HUMAN&rb=200&re=289&var=P224Q	deleterious(0.01)	B4DGP0_HUMAN			YES	CNTN5,missense_variant,p.Pro224Gln,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Pro224Gln,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Pro224Gln,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Pro150Gln,ENST00000418526,NM_175566.2;CNTN5,missense_variant,p.Pro224Gln,ENST00000279463,;CNTN5,splice_region_variant,,ENST00000528727,;							MODERATE	671/3303	P224Q	CNTN5_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000435637		CCDS53696.1			1	
FAM216A	0	LGGM	GRCh37	12	110924399	110924399	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	6	.	.	ENST00000377673.5:c.497C>A	p.Pro166His	p.P166H	ENST00000377673	NM_013300.2	166	cCt/cAt	0	1	1	UPI0000073200	0	NA	ENST00000377673		ENSG00000204856	30180		91	1.78		HGNC	p.P166H		FAM216A		SNV							ENST00000377673	protein_coding	getma.org/?cm=var&var=hg19,12,110924399,C,A&fts=all		Pfam_domain:PF15107,hmmpanther:PTHR16476,hmmpanther:PTHR16476:SF1		P/H		A	low	1009/1582		getma.org/?cm=msa&ty=f&p=F216A_HUMAN&rb=1&re=200&var=P166H	deleterious_low_confidence(0)				YES	FAM216A,missense_variant,p.Pro166His,ENST00000377673,NM_013300.2;VPS29,downstream_gene_variant,,ENST00000549578,NM_016226.3;VPS29,downstream_gene_variant,,ENST00000360579,NM_057180.1;FAM216A,3_prime_UTR_variant,,ENST00000548449,;FAM216A,non_coding_transcript_exon_variant,,ENST00000538285,;FAM216A,non_coding_transcript_exon_variant,,ENST00000548869,;FAM216A,non_coding_transcript_exon_variant,,ENST00000546396,;FAM216A,upstream_gene_variant,,ENST00000547539,;							MODERATE	497/822	P166H	F216A_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000366901		CCDS31899.1			1	
EIF5AL1	0	LGGM	GRCh37	10	81272805	81272805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	60	6	.	.	ENST00000520547.2:c.400C>A	p.Leu134Met	p.L134M	ENST00000520547	NM_001099692.1	134	Ctg/Atg	0	1	1	UPI00001972AD	0	getma.org/pdb.php?prot=IF5AL_HUMAN&from=83&to=150&var=L134M	ENST00000520547		ENSG00000253626	17419		66	0.965		HGNC	p.L134M		EIF5AL1		SNV							ENST00000520547	protein_coding	getma.org/?cm=var&var=hg19,10,81272805,C,A&fts=all		hmmpanther:PTHR11673:SF7,hmmpanther:PTHR11673,Pfam_domain:PF01287,Gene3D:2.40.50.140,TIGRFAM_domain:TIGR00037,PIRSF_domain:PIRSF003025,Superfamily_domains:SSF50249		L/M		A	low	449/3832		getma.org/?cm=msa&ty=f&p=IF5AL_HUMAN&rb=83&re=150&var=L134M	tolerated(0.22)				YES	EIF5AL1,missense_variant,p.Leu134Met,ENST00000520547,NM_001099692.1;AL133481.1,upstream_gene_variant,,ENST00000538322,;RP11-342M3.2,upstream_gene_variant,,ENST00000607558,;							MODERATE	400/465	L134M	IF5AL_HUMAN			Transcript		benign(0.117)	.	ENSP00000430706		CCDS53546.1			1	
DDX60	0	LGGM	GRCh37	4	169189035	169189035	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	104	6	.	.	ENST00000393743.3:c.2886C>A	p.Pro962=	p.P962=	ENST00000393743	NM_017631.5	962	ccC/ccA	0	1	1	UPI000020B6AB	0		ENST00000393743		ENSG00000137628	25942		110			HGNC	p.P962P		DDX60		SNV							ENST00000393743	protein_coding			hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752		P		T		3178/6071				Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,synonymous_variant,p.=,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000505393,;DDX60,synonymous_variant,p.=,ENST00000513997,;							LOW	2886/5139		DDX60_HUMAN			Transcript			.	ENSP00000377344		CCDS34097.1			1	
MAP3K5	0	LGGM	GRCh37	6	136944043	136944043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	85	6	.	.	ENST00000359015.4:c.2093G>T	p.Arg698Leu	p.R698L	ENST00000359015	NM_005923.3	698	cGg/cTg	0	1	1	UPI000012EAD5	0	getma.org/pdb.php?prot=M3K5_HUMAN&from=682&to=938&var=R698L	ENST00000359015		ENSG00000197442	6857		91	-0.405		HGNC	p.R698L		MAP3K5		SNV							ENST00000359015	protein_coding	getma.org/?cm=var&var=hg19,6,136944043,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		A	neutral	2454/5197		getma.org/?cm=msa&ty=f&p=M3K5_HUMAN&rb=682&re=938&var=R698L	deleterious(0)	A6NIA0_HUMAN			YES	MAP3K5,missense_variant,p.Arg698Leu,ENST00000359015,NM_005923.3;MAP3K5,intron_variant,,ENST00000355845,;							MODERATE	2093/4125	R698L	M3K5_HUMAN			Transcript		possibly_damaging(0.509)	.	ENSP00000351908		CCDS5179.1			1	
SYNM	0	LGGM	GRCh37	15	99672750	99672750	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	108	6	.	.	ENST00000336292.6:c.4182G>T	p.Ser1394=	p.S1394=	ENST00000336292	NM_145728.2	1394	tcG/tcT	0	1	1	UPI00001B03B3	0		ENST00000336292		ENSG00000182253	24466		114			HGNC	p.S1394S		SYNM		SNV							ENST00000336292	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF93		S		T		4302/7322							YES	SYNM,synonymous_variant,p.=,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,;							LOW	4182/4695		SYNEM_HUMAN			Transcript			.	ENSP00000336775					1	
USP3	0	LGGM	GRCh37	15	63880619	63880619	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	73	6	.	.	ENST00000380324.3:c.1212C>A	p.Pro404=	p.P404=	ENST00000380324	NM_006537.3	404	ccC/ccA	0	1	1	UPI0000071F2D	0		ENST00000380324		ENSG00000140455	12626		79			HGNC	p.P155P		USP3		SNV							ENST00000539772	protein_coding			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF356,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		P		A		1341/2333				Q9Y2R8_HUMAN,H0YM72_HUMAN,B4DWJ6_HUMAN			YES	USP3,synonymous_variant,p.=,ENST00000268049,;USP3,synonymous_variant,p.=,ENST00000380324,NM_006537.3;USP3,synonymous_variant,p.=,ENST00000540797,NM_001256702.1;USP3,synonymous_variant,p.=,ENST00000558285,;USP3,synonymous_variant,p.=,ENST00000559711,;USP3,synonymous_variant,p.=,ENST00000539772,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000560962,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000558831,;USP3-AS1,non_coding_transcript_exon_variant,,ENST00000559737,;USP3-AS1,intron_variant,,ENST00000559861,;USP3-AS1,intron_variant,,ENST00000559357,;USP3-AS1,intron_variant,,ENST00000560350,;USP3-AS1,downstream_gene_variant,,ENST00000561191,;USP3-AS1,downstream_gene_variant,,ENST00000561256,;USP3-AS1,downstream_gene_variant,,ENST00000560622,;USP3,non_coding_transcript_exon_variant,,ENST00000558218,;USP3,synonymous_variant,p.=,ENST00000559257,;USP3,3_prime_UTR_variant,,ENST00000559192,;USP3,3_prime_UTR_variant,,ENST00000558157,;USP3,3_prime_UTR_variant,,ENST00000538686,;USP3,non_coding_transcript_exon_variant,,ENST00000561381,;USP3,upstream_gene_variant,,ENST00000560202,;USP3,upstream_gene_variant,,ENST00000559718,;USP3,downstream_gene_variant,,ENST00000559873,;							LOW	1212/1563		UBP3_HUMAN			Transcript			.	ENSP00000369681		CCDS32265.1			1	
MLLT4	0	LGGM	GRCh37	6	168281195	168281195	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	106	6	.	.	ENST00000392108.3:c.895C>A	p.Arg299=	p.R299=	ENST00000392108	NM_001040000.2	299	Cgg/Agg	0	1		UPI000047089C	0		ENST00000447894		ENSG00000130396	7137		112			HGNC	p.R299R		MLLT4		SNV							ENST00000344191	protein_coding			PROSITE_profiles:PS50200,hmmpanther:PTHR10398,Gene3D:3.10.20.90,Pfam_domain:PF00788,SMART_domains:SM00314,Superfamily_domains:SSF54236		R		A		895/5475								MLLT4,splice_region_variant,p.=,ENST00000366806,;MLLT4,splice_region_variant,p.=,ENST00000400822,;MLLT4,splice_region_variant,p.=,ENST00000392112,NM_001207008.1;MLLT4,splice_region_variant,p.=,ENST00000392108,NM_001040000.2;MLLT4,splice_region_variant,p.=,ENST00000351017,;MLLT4,splice_region_variant,p.=,ENST00000447894,;MLLT4,splice_region_variant,p.=,ENST00000344191,;MLLT4,splice_region_variant,p.=,ENST00000423229,;MLLT4,downstream_gene_variant,,ENST00000400825,;MLLT4,splice_region_variant,,ENST00000366809,;							LOW	895/5475		AFAD_HUMAN			Transcript			.	ENSP00000404595					1	
TTN	0	LGGM	GRCh37	2	179400516	179400516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	108	6	.	.	ENST00000589042.1:c.100826G>T	p.Arg33609Leu	p.R33609L	ENST00000589042	NM_001267550.1	33609	cGa/cTa	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=31955&to=32045&var=R31968L	ENST00000591111		ENSG00000155657	12403		114	0.79		HGNC	p.R31968L		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179400516,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/L		A	neutral	96128/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=31955&re=32045&var=R31968L		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg33609Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg31968Leu,ENST00000591111,;TTN,missense_variant,p.Arg31041Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg24736Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg24669Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg24544Leu,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000431259,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000442329,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588257,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000589391,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592689,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000591466,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000585358,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000585487,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592182,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000591867,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588244,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000450692,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588804,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000589842,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588716,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592836,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000589434,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;TTN-AS1,intron_variant,,ENST00000586707,;TTN-AS1,intron_variant,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;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,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;							MODERATE	95903/103053	R31968L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
LRP6	0	LGGM	GRCh37	12	12397357	12397357	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	6	.	.	ENST00000261349.4:c.288C>A	p.Ser96=	p.S96=	ENST00000261349	NM_002336.2	96	tcC/tcA	0	1	1	UPI00001FB66C	0		ENST00000261349		ENSG00000070018	6698		90			HGNC	p.S96S		LRP6		SNV			1				ENST00000261349	protein_coding			Superfamily_domains:SSF63825,SMART_domains:SM00135,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		S		T		365/10020				F5H0Z3_HUMAN,B3KQA9_HUMAN			YES	LRP6,synonymous_variant,p.=,ENST00000261349,NM_002336.2;LRP6,synonymous_variant,p.=,ENST00000543091,;LRP6,intron_variant,,ENST00000535731,;LRP6,upstream_gene_variant,,ENST00000538239,;RP11-757G14.3,upstream_gene_variant,,ENST00000604544,;							LOW	288/4842		LRP6_HUMAN			Transcript			.	ENSP00000261349		CCDS8647.1			1	
DPP10	0	LGGM	GRCh37	2	116066821	116066821	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	6	.	.	ENST00000393147.2:c.79G>T	p.Gly27Ter	p.G27*	ENST00000393147	NM_001178034.1	27	Gga/Tga	0	1		UPI00001AEF55	0	NA	ENST00000410059		ENSG00000175497	20823		84	0		HGNC	p.G19X		DPP10		SNV			1				ENST00000393146	protein_coding	getma.org/?cm=var&var=hg19,2,116066821,G,T&fts=all		hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731		G/*		T	NA	547/6278		NA		Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN				DPP10,stop_gained,p.Gly23Ter,ENST00000410059,NM_001178037.1,NM_020868.3;DPP10,stop_gained,p.Gly16Ter,ENST00000310323,NM_001004360.3;DPP10,stop_gained,p.Gly27Ter,ENST00000393147,NM_001178034.1;DPP10,stop_gained,p.Gly19Ter,ENST00000393146,;DPP10,5_prime_UTR_variant,,ENST00000409163,NM_001178036.1;DPP10,5_prime_UTR_variant,,ENST00000436732,;DPP10,5_prime_UTR_variant,,ENST00000419287,;DPP10,non_coding_transcript_exon_variant,,ENST00000461250,;DPP10,non_coding_transcript_exon_variant,,ENST00000486885,;DPP10,intron_variant,,ENST00000429914,;							HIGH	67/2391	G23*	DPP10_HUMAN			Transcript			.	ENSP00000386565		CCDS46400.1			1	
HMGN5	0	LGGM	GRCh37	X	80373932	80373932	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	6	.	.	ENST00000358130.2:c.128G>T	p.Arg43Met	p.R43M	ENST00000358130	NM_030763.2	43	aGg/aTg	0	1	1	UPI0000130542	0	NA	ENST00000358130		ENSG00000198157	8013		82	1.79		HGNC	p.R33M		HMGN5		SNV							ENST00000373250	protein_coding	getma.org/?cm=var&var=hg19,X,80373932,C,A&fts=all		Pfam_domain:PF01101,hmmpanther:PTHR23145,Low_complexity_(Seg):seg,SMART_domains:SM00527		R/M		A	low	457/2126		getma.org/?cm=msa&ty=f&p=HMGN5_HUMAN&rb=2&re=102&var=R43M	deleterious_low_confidence(0)	Q5JSL0_HUMAN,Q5JSK8_HUMAN,Q5JSK7_HUMAN			YES	HMGN5,missense_variant,p.Arg43Met,ENST00000358130,NM_030763.2;HMGN5,missense_variant,p.Arg43Met,ENST00000436386,;HMGN5,missense_variant,p.Arg23Met,ENST00000447319,;HMGN5,missense_variant,p.Arg43Met,ENST00000451455,;HMGN5,missense_variant,p.Arg43Met,ENST00000430960,;HMGN5,missense_variant,p.Arg33Met,ENST00000373250,;HMGN5,splice_region_variant,,ENST00000491275,;							MODERATE	128/849	R43M	HMGN5_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000350848		CCDS14448.1			1	
G6PC2	0	LGGM	GRCh37	2	169761077	169761077	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	86	6	.	.	ENST00000375363.3:c.391C>A	p.Leu131Met	p.L131M	ENST00000375363	NM_021176.2	131	Ctg/Atg	0	1	1	UPI0000048D51	0	NA	ENST00000375363		ENSG00000152254	28906		92	2.905		HGNC	p.L131M		G6PC2		SNV			1				ENST00000429379	protein_coding	getma.org/?cm=var&var=hg19,2,169761077,C,A&fts=all		Gene3D:1.20.144.10,Pfam_domain:PF01569,PIRSF_domain:PIRSF000905,hmmpanther:PTHR12591,hmmpanther:PTHR12591:SF1,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix		L/M		A	medium	483/1214		getma.org/?cm=msa&ty=f&p=G6PC2_HUMAN&rb=53&re=199&var=L131M	deleterious(0.02)				YES	G6PC2,missense_variant,p.Leu131Met,ENST00000375363,NM_021176.2;G6PC2,missense_variant,p.Leu131Met,ENST00000429379,NM_001081686.1;SPC25,intron_variant,,ENST00000451987,;G6PC2,intron_variant,,ENST00000421979,;G6PC2,non_coding_transcript_exon_variant,,ENST00000461586,;SPC25,intron_variant,,ENST00000472216,;G6PC2,missense_variant,p.Pro94His,ENST00000282075,;							MODERATE	391/1068	L131M	G6PC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364512		CCDS2230.1			1	
ZNF608	0	LGGM	GRCh37	5	123984016	123984016	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	6	.	.	ENST00000306315.5:c.2061G>T	p.Ser687=	p.S687=	ENST00000306315	NM_020747.2	687	tcG/tcT	0	1	1	UPI000013EB23	0		ENST00000306315		ENSG00000168916	29238		77			HGNC	p.S687S		ZNF608		SNV							ENST00000513986	protein_coding			hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4		S		A		2497/5958				Q9UFL4_HUMAN,B3KPE6_HUMAN			YES	ZNF608,synonymous_variant,p.=,ENST00000306315,NM_020747.2;ZNF608,synonymous_variant,p.=,ENST00000504926,;ZNF608,synonymous_variant,p.=,ENST00000513986,;ZNF608,synonymous_variant,p.=,ENST00000509799,;ZNF608,intron_variant,,ENST00000503896,;ZNF608,upstream_gene_variant,,ENST00000513985,;ZNF608,downstream_gene_variant,,ENST00000507508,;ZNF608,intron_variant,,ENST00000505686,;							LOW	2061/4539		ZN608_HUMAN			Transcript			.	ENSP00000307746		CCDS34219.1			1	
CHD2	0	LGGM	GRCh37	15	93486170	93486170	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	49	6	.	.	ENST00000394196.4:c.924C>A	p.Leu308=	p.L308=	ENST00000394196	NM_001271.3	308	ctC/ctA	0	1	1	UPI0000E8A85C	0		ENST00000394196		ENSG00000173575	1917		55			HGNC	p.L308L		CHD2		SNV			1				ENST00000557381	protein_coding			Gene3D:2.40.50.40,Pfam_domain:PF00385,PROSITE_patterns:PS00598,PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,SMART_domains:SM00298,Superfamily_domains:SSF54160		L		A		1992/9857				Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,synonymous_variant,p.=,ENST00000394196,NM_001271.3;CHD2,synonymous_variant,p.=,ENST00000557381,;CHD2,synonymous_variant,p.=,ENST00000420239,NM_001042572.2;CHD2,synonymous_variant,p.=,ENST00000536619,;CHD2,non_coding_transcript_exon_variant,,ENST00000555753,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000309818,;CHD2,non_coding_transcript_exon_variant,,ENST00000556270,;CHD2,non_coding_transcript_exon_variant,,ENST00000553323,;							LOW	924/5487		CHD2_HUMAN			Transcript			.	ENSP00000377747		CCDS10374.2			1	
PKHD1L1	0	LGGM	GRCh37	8	110439237	110439237	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	6	.	.	ENST00000378402.5:c.2852C>A	p.Pro951His	p.P951H	ENST00000378402	NM_177531.4	951	cCc/cAc	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		74	2.445		HGNC	p.P951H		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110439237,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		P/H		A	medium	2956/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=880&re=1066&var=P951H	tolerated(0.1)				YES	PKHD1L1,missense_variant,p.Pro951His,ENST00000378402,NM_177531.4;							MODERATE	2852/12732	P951H	PKHL1_HUMAN			Transcript		benign(0.011)	.	ENSP00000367655		CCDS47911.1			1	
PEX5L	0	LGGM	GRCh37	3	179537703	179537703	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	67	6	.	.	ENST00000467460.1:c.884G>T	p.Trp295Leu	p.W295L	ENST00000467460	NM_001256751.1	295	tGg/tTg	0	1	1	UPI0000049CE2	0	NA	ENST00000467460		ENSG00000114757	30024		73	2.285		HGNC	p.W295L		PEX5L		SNV							ENST00000467460	protein_coding	getma.org/?cm=var&var=hg19,3,179537703,C,A&fts=all		hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130		W/L		A	medium	1215/9082		getma.org/?cm=msa&ty=f&p=PEX5R_HUMAN&rb=201&re=359&var=W295L	deleterious(0.02)	C9JZE2_HUMAN,C9IZ09_HUMAN			YES	PEX5L,missense_variant,p.Trp295Leu,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,missense_variant,p.Trp260Leu,ENST00000485199,NM_001256752.1;PEX5L,missense_variant,p.Trp293Leu,ENST00000263962,NM_001256750.1;PEX5L,missense_variant,p.Trp252Leu,ENST00000476138,NM_001256754.1;PEX5L,missense_variant,p.Trp187Leu,ENST00000392649,;PEX5L,missense_variant,p.Trp103Leu,ENST00000468741,NM_001256756.1;PEX5L,missense_variant,p.Trp236Leu,ENST00000472994,NM_001256753.1;PEX5L,missense_variant,p.Trp271Leu,ENST00000465751,;PEX5L,missense_variant,p.Trp187Leu,ENST00000464614,NM_001256755.1;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,non_coding_transcript_exon_variant,,ENST00000461537,;PEX5L,non_coding_transcript_exon_variant,,ENST00000477829,;							MODERATE	884/1881	W295L	PEX5R_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000419975		CCDS3236.1			1	
ZNF786	0	LGGM	GRCh37	7	148771586	148771586	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	95	6	.	.	ENST00000491431.1:c.190G>T	p.Gly64Trp	p.G64W	ENST00000491431	NM_152411.3	64	Ggg/Tgg	0	1	1	UPI000013FD40	0	NA	ENST00000491431		ENSG00000197362	21806		101	3.04		HGNC	p.G27W		ZNF786		SNV							ENST00000451334	protein_coding	getma.org/?cm=var&var=hg19,7,148771586,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24385:SF15,hmmpanther:PTHR24385,SMART_domains:SM00349,Superfamily_domains:0044637		G/W		A	medium	255/2874		getma.org/?cm=msa&ty=f&p=ZN786_HUMAN&rb=9&re=80&var=G64W	deleterious(0)	H7BXP3_HUMAN,B4DMI1_HUMAN			YES	ZNF786,missense_variant,p.Gly27Trp,ENST00000451334,;ZNF786,missense_variant,p.Gly64Trp,ENST00000491431,NM_152411.3;ZNF786,5_prime_UTR_variant,,ENST00000316286,;							MODERATE	190/2349	G64W	ZN786_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000417470		CCDS47738.1			1	
HERC1	0	LGGM	GRCh37	15	63972894	63972894	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	136	6	.	.	ENST00000443617.2:c.6307C>A	p.Arg2103Ser	p.R2103S	ENST00000443617	NM_003922.3	2103	Cgc/Agc	0	1	1	UPI0000212760	0	getma.org/pdb.php?prot=HERC1_HUMAN&from=2069&to=2192&var=R2103S	ENST00000443617		ENSG00000103657	4867		142	1.79		HGNC	p.R2103S		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,63972894,G,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		R/S		T	low	6395/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=2069&re=2192&var=R2103S		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Arg2103Ser,ENST00000443617,NM_003922.3;HERC1,upstream_gene_variant,,ENST00000559715,;RP11-317G6.1,intron_variant,,ENST00000559303,;							MODERATE	6307/14586	R2103S	HERC1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000390158		CCDS45277.1			1	
ZNF480	0	LGGM	GRCh37	19	52825855	52825855	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000595962.1:c.1352G>T	p.Gly451Val	p.G451V	ENST00000595962	NM_144684.2	451	gGa/gTa	0	1		UPI0000202AEF	0	getma.org/pdb.php?prot=ZN480_HUMAN&from=441&to=466&var=G451V	ENST00000468240		ENSG00000198464	23305		96	2.405		HGNC	p.G451V		ZNF480		SNV							ENST00000468240	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,19,52825855,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF12,Superfamily_domains:SSF57667		G/V		T	medium	1418/2527		getma.org/?cm=msa&ty=f&p=ZN480_HUMAN&rb=421&re=486&var=G451V	deleterious(0)					ZNF480,missense_variant,p.Gly451Val,ENST00000595962,NM_144684.2;ZNF480,missense_variant,p.Gly374Val,ENST00000335090,;ZNF480,missense_variant,p.Gly408Val,ENST00000334564,;ZNF480,3_prime_UTR_variant,,ENST00000490272,;ZNF480,downstream_gene_variant,,ENST00000598016,;CTD-2525I3.6,intron_variant,,ENST00000594379,;ZNF480,missense_variant,p.Gly451Val,ENST00000468240,;							MODERATE	1352/1608	G451V	ZN480_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000417424		CCDS12850.2			1	
GSTA3	0	LGGM	GRCh37	6	52761652	52761652	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000211122.3:c.621C>A	p.Pro207=	p.P207=	ENST00000211122	NM_000847.4	207	ccC/ccA	0	1	1	UPI000012BCA7	0		ENST00000211122		ENSG00000174156	4628		96			HGNC	p.P157P		GSTA3		SNV							ENST00000370968	protein_coding			PROSITE_profiles:PS50405,hmmpanther:PTHR11571,hmmpanther:PTHR11571:SF102,Superfamily_domains:SSF47616,Prints_domain:PR01266		P		T		687/902				Q5JW85_HUMAN			YES	GSTA3,synonymous_variant,p.=,ENST00000211122,NM_000847.4;GSTA3,synonymous_variant,p.=,ENST00000370968,;GSTA3,downstream_gene_variant,,ENST00000431899,;							LOW	621/669		GSTA3_HUMAN			Transcript			.	ENSP00000211122		CCDS4947.1			1	
PDE4D	0	LGGM	GRCh37	5	58289273	58289273	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	112	6	.	.	ENST00000340635.6:c.941G>T	p.Arg314Leu	p.R314L	ENST00000340635	NM_001104631.1	314	cGg/cTg	0	1	1	UPI0000050EB1	0	getma.org/pdb.php?prot=PDE4D_HUMAN&from=300&to=460&var=R314L	ENST00000340635		ENSG00000113448	8783		118	3.305		HGNC	p.R192L		PDE4D		SNV			1				ENST00000405755	protein_coding	getma.org/?cm=var&var=hg19,5,58289273,C,A&fts=all		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF91		R/L		A	medium	1117/8232		getma.org/?cm=msa&ty=f&p=PDE4D_HUMAN&rb=300&re=460&var=R314L	deleterious_low_confidence(0)	D6RHE0_HUMAN			YES	PDE4D,missense_variant,p.Arg314Leu,ENST00000340635,NM_001104631.1;PDE4D,missense_variant,p.Arg250Leu,ENST00000507116,NM_001197218.1;PDE4D,missense_variant,p.Arg178Leu,ENST00000360047,NM_006203.4;PDE4D,missense_variant,p.Arg12Leu,ENST00000358923,NM_001197221.1,NM_001197222.1;PDE4D,missense_variant,p.Arg184Leu,ENST00000503258,NM_001197220.1;PDE4D,missense_variant,p.Arg23Leu,ENST00000317118,NM_001197223.1;PDE4D,missense_variant,p.Arg253Leu,ENST00000502484,NM_001165899.1;PDE4D,missense_variant,p.Arg192Leu,ENST00000405755,NM_001197219.1;PDE4D,missense_variant,p.Arg253Leu,ENST00000546160,;PDE4D,missense_variant,p.Arg12Leu,ENST00000505453,;PDE4D,non_coding_transcript_exon_variant,,ENST00000405053,;PDE4D,3_prime_UTR_variant,,ENST00000309641,;PDE4D,non_coding_transcript_exon_variant,,ENST00000515011,;							MODERATE	941/2430	R314L	PDE4D_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000345502		CCDS47213.1			1	
CAPZB	0	LGGM	GRCh37	1	19683201	19683201	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	93	6	.	.	ENST00000375142.1:c.516G>T	p.Thr172=	p.T172=	ENST00000375142	NM_001206540.1	172	acG/acT	0	1	1	UPI0000126EDB	0		ENST00000375142		ENSG00000077549	1491		99			HGNC	p.T201T		CAPZB		SNV							ENST00000433834	protein_coding			Pfam_domain:PF01115,hmmpanther:PTHR10619,Superfamily_domains:SSF90096		T		A		563/1686				F6USW4_HUMAN			YES	CAPZB,synonymous_variant,p.=,ENST00000264203,NM_001206541.2;CAPZB,synonymous_variant,p.=,ENST00000401084,NM_004930.3,NM_001282162.1;CAPZB,synonymous_variant,p.=,ENST00000375142,NM_001206540.1;CAPZB,synonymous_variant,p.=,ENST00000375144,;CAPZB,synonymous_variant,p.=,ENST00000433834,;CAPZB,synonymous_variant,p.=,ENST00000264202,;CAPZB,synonymous_variant,p.=,ENST00000413711,;CAPZB,downstream_gene_variant,,ENST00000457768,;CAPZB,non_coding_transcript_exon_variant,,ENST00000459967,;CAPZB,downstream_gene_variant,,ENST00000489607,;							LOW	516/834		CAPZB_HUMAN			Transcript			.	ENSP00000364284		CCDS55579.1			1	
SLC15A1	0	LGGM	GRCh37	13	99373629	99373629	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	6	.	.	ENST00000376503.5:c.556+120G>T		*186*	ENST00000376503	NM_005073.3			0	1	1	UPI000013166F	0		ENST00000376503		ENSG00000088386	10920		97			HGNC	p.G194W		SLC15A1		SNV							ENST00000376494	protein_coding							A		-/3106				B2CQT6_HUMAN			YES	SLC15A1,intron_variant,,ENST00000376503,NM_005073.3;SLC15A1,non_coding_transcript_exon_variant,,ENST00000376494,;							MODIFIER	-/2127		S15A1_HUMAN			Transcript			.	ENSP00000365686		CCDS9489.1			1	
PCSK5	0	LGGM	GRCh37	9	78911730	78911730	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	6	.	.	ENST00000545128.1:c.3472G>T	p.Gly1158Trp	p.G1158W	ENST00000545128	NM_001190482.1	1158	Ggg/Tgg	0	1	1	UPI0001DAD817	0	NA	ENST00000545128		ENSG00000099139	8747		75	4.11		HGNC	p.G831W		PCSK5		SNV							ENST00000424854	protein_coding	getma.org/?cm=var&var=hg19,9,78911730,G,T&fts=all		Gene3D:2.10.220.10,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184		G/W		T	high	4010/9538		getma.org/?cm=msa&ty=f&p=PCSK5_HUMAN&rb=1112&re=1311&var=G1158W	tolerated(0.07)	I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Gly1158Trp,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Gly831Trp,ENST00000424854,;							MODERATE	3472/5583	G1158W	PCSK5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000446280		CCDS55320.1			1	
FBXO38	0	LGGM	GRCh37	5	147819304	147819304	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	69	6	.	.	ENST00000394370.3:c.2894G>T	p.Arg965Leu	p.R965L	ENST00000394370		965	cGg/cTg	0	1		UPI000020CF2A	0	NA	ENST00000340253		ENSG00000145868	28844		75	0.975		HGNC	p.R1040L		FBXO38		SNV			1				ENST00000340253	protein_coding	getma.org/?cm=var&var=hg19,5,147819304,G,T&fts=all		hmmpanther:PTHR14753		R/L		T	low	3287/4424		getma.org/?cm=msa&ty=f&p=FBX38_HUMAN&rb=67&re=1186&var=R1040L	deleterious(0.02)	Q6AZE0_HUMAN,A0PJ52_HUMAN				FBXO38,missense_variant,p.Arg1040Leu,ENST00000340253,NM_030793.4;FBXO38,missense_variant,p.Arg965Leu,ENST00000394370,;FBXO38,missense_variant,p.Arg795Leu,ENST00000296701,NM_001271723.1;FBXO38,missense_variant,p.Arg795Leu,ENST00000513826,;FBXO38,non_coding_transcript_exon_variant,,ENST00000505399,;FBXO38,downstream_gene_variant,,ENST00000504447,;FBXO38,upstream_gene_variant,,ENST00000508176,;							MODERATE	3119/3567	R1040L	FBX38_HUMAN			Transcript		benign(0.438)	.	ENSP00000342023					1	
ADAMTS19	0	LGGM	GRCh37	5	129070795	129070795	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	6	.	.	ENST00000274487.4:c.3465C>A	p.Pro1155=	p.P1155=	ENST00000274487	NM_133638.3	1155	ccC/ccA	0	1	1	UPI000013DA0D	0		ENST00000274487		ENSG00000145808	17111		97			HGNC	p.P1155P		ADAMTS19		SNV							ENST00000274487	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151		P		A		3610/5234							YES	ADAMTS19,synonymous_variant,p.=,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,downstream_gene_variant,,ENST00000509467,;							LOW	3465/3624		ATS19_HUMAN			Transcript			.	ENSP00000274487		CCDS4146.1			1	
NUPL2	0	LGGM	GRCh37	7	23224750	23224750	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	6	.	.	ENST00000258742.5:c.183C>A	p.Ser61=	p.S61=	ENST00000258742	NM_007342.2	61	tcC/tcA	0	1	1	UPI0000072A3C	0		ENST00000258742		ENSG00000136243	17010		74			HGNC	p.S61S		NUPL2		SNV							ENST00000438012	protein_coding			hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF42		S		A		442/1795							YES	NUPL2,synonymous_variant,p.=,ENST00000258742,NM_007342.2;NUPL2,synonymous_variant,p.=,ENST00000413919,;NUPL2,synonymous_variant,p.=,ENST00000410002,;AC005082.1,intron_variant,,ENST00000366347,;NUPL2,non_coding_transcript_exon_variant,,ENST00000487595,;NUPL2,synonymous_variant,p.=,ENST00000438012,;NUPL2,non_coding_transcript_exon_variant,,ENST00000485250,;NUPL2,non_coding_transcript_exon_variant,,ENST00000497500,;NUPL2,intron_variant,,ENST00000437140,;NUPL2,upstream_gene_variant,,ENST00000486136,;							LOW	183/1272		NUPL2_HUMAN			Transcript			.	ENSP00000258742		CCDS5379.1			1	
MTIF3	0	LGGM	GRCh37	13	28014402	28014402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	97	6	.	.	ENST00000381116.1:c.184C>A	p.Gln62Lys	p.Q62K	ENST00000381116		62	Cag/Aag	0	1	1	UPI000013CACF	0	NA	ENST00000381116		ENSG00000122033	29788		103	2.14		HGNC	p.Q62K		MTIF3		SNV							ENST00000381120	protein_coding	getma.org/?cm=var&var=hg19,13,28014402,G,T&fts=all		hmmpanther:PTHR10938,hmmpanther:PTHR10938:SF0		Q/K		T	medium	419/1104		getma.org/?cm=msa&ty=f&p=IF3M_HUMAN&rb=1&re=72&var=Q62K	tolerated(0.22)				YES	MTIF3,missense_variant,p.Gln62Lys,ENST00000381116,;MTIF3,missense_variant,p.Gln62Lys,ENST00000431572,NM_001166263.1;MTIF3,missense_variant,p.Gln62Lys,ENST00000405591,NM_001166262.1,NM_001166261.1;MTIF3,missense_variant,p.Gln62Lys,ENST00000381120,NM_152912.4;GTF3A,downstream_gene_variant,,ENST00000381140,NM_002097.2;GTF3A,downstream_gene_variant,,ENST00000439403,;MTIF3,non_coding_transcript_exon_variant,,ENST00000461838,;MTIF3,non_coding_transcript_exon_variant,,ENST00000471771,;MTIF3,non_coding_transcript_exon_variant,,ENST00000485650,;MTIF3,non_coding_transcript_exon_variant,,ENST00000460973,;MTIF3,non_coding_transcript_exon_variant,,ENST00000493719,;MTIF3,non_coding_transcript_exon_variant,,ENST00000485959,;MTIF3,non_coding_transcript_exon_variant,,ENST00000484342,;GTF3A,downstream_gene_variant,,ENST00000470606,;MTIF3,downstream_gene_variant,,ENST00000483903,;MTIF3,downstream_gene_variant,,ENST00000464753,;GTF3A,downstream_gene_variant,,ENST00000419181,;GTF3A,downstream_gene_variant,,ENST00000482655,;							MODERATE	184/837	Q62K	IF3M_HUMAN			Transcript		benign(0.164)	.	ENSP00000370508		CCDS9322.1			1	
SF3B4	0	LGGM	GRCh37	1	149899132	149899132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	32	6	.	.	ENST00000271628.8:c.89G>T	p.Trp30Leu	p.W30L	ENST00000271628	NM_005850.4	30	tGg/tTg	0	1	1	UPI0000135472	0	getma.org/pdb.php?prot=SF3B4_HUMAN&from=15&to=85&var=W30L	ENST00000271628		ENSG00000143368	10771		38	-0.185		HGNC	p.W30L		SF3B4		SNV			1				ENST00000271628	protein_coding	getma.org/?cm=var&var=hg19,1,149899132,C,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24011,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		W/L		A	neutral	674/2085		getma.org/?cm=msa&ty=f&p=SF3B4_HUMAN&rb=15&re=85&var=W30L	deleterious(0.01)	Q5SZ64_HUMAN			YES	SF3B4,missense_variant,p.Trp30Leu,ENST00000271628,NM_005850.4;SF3B4,5_prime_UTR_variant,,ENST00000457312,;MTMR11,downstream_gene_variant,,ENST00000439741,NM_001145862.1;MTMR11,downstream_gene_variant,,ENST00000406732,;MTMR11,downstream_gene_variant,,ENST00000369140,NM_181873.3;MTMR11,downstream_gene_variant,,ENST00000361405,;MTMR11,downstream_gene_variant,,ENST00000492824,;MTMR11,downstream_gene_variant,,ENST00000482025,;MTMR11,downstream_gene_variant,,ENST00000466496,;MTMR11,downstream_gene_variant,,ENST00000490310,;MTMR11,downstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000493562,;MTMR11,downstream_gene_variant,,ENST00000482343,;							MODERATE	89/1275	W30L	SF3B4_HUMAN			Transcript		benign(0.444)	.	ENSP00000271628		CCDS941.1			1	
PEX19	0	LGGM	GRCh37	1	160250011	160250011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	106	6	.	.	ENST00000368072.5:c.620G>T	p.Arg207Leu	p.R207L	ENST00000368072	NM_001193644.1	207	cGg/cTg	0	1	1	UPI0000132BAD	0	getma.org/pdb.php?prot=PEX19_HUMAN&from=50&to=299&var=R207L	ENST00000368072		ENSG00000162735	9713		112	1.32		HGNC	p.R207L		PEX19		SNV			1				ENST00000368072	protein_coding	getma.org/?cm=var&var=hg19,1,160250011,C,A&fts=all		Pfam_domain:PF04614,hmmpanther:PTHR12774		R/L		A	low	642/3661		getma.org/?cm=msa&ty=f&p=PEX19_HUMAN&rb=50&re=299&var=R207L	deleterious(0.02)	B7Z6I5_HUMAN			YES	PEX19,missense_variant,p.Arg207Leu,ENST00000368072,NM_001193644.1,NM_002857.3;DCAF8,missense_variant,p.Arg60Leu,ENST00000608310,;DCAF8,missense_variant,p.Arg60Leu,ENST00000556710,;PEX19,missense_variant,p.Arg117Leu,ENST00000440949,;DCAF8,missense_variant,p.Arg77Leu,ENST00000485079,;PEX19,missense_variant,p.Arg187Leu,ENST00000392220,;PEX19,missense_variant,p.Arg45Leu,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,;							MODERATE	620/900	R207L	PEX19_HUMAN			Transcript		benign(0.038)	.	ENSP00000357051		CCDS1201.1			1	
PPFIA1	0	LGGM	GRCh37	11	70194448	70194448	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	6	.	.	ENST00000253925.7:c.2085G>T	p.Pro695=	p.P695=	ENST00000253925	NM_003626.3	695	ccG/ccT	0	1	1	UPI0000072426	0		ENST00000253925		ENSG00000131626	9245		81			HGNC	p.P695P		PPFIA1		SNV							ENST00000389547	protein_coding			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15,Low_complexity_(Seg):seg		P		T		2300/5234				E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN			YES	PPFIA1,synonymous_variant,p.=,ENST00000253925,NM_003626.3;PPFIA1,synonymous_variant,p.=,ENST00000389547,NM_177423.2;PPFIA1,synonymous_variant,p.=,ENST00000528750,;PPFIA1,intron_variant,,ENST00000530798,;AP000487.6,intron_variant,,ENST00000528607,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000526074,;PPFIA1,downstream_gene_variant,,ENST00000528284,;PPFIA1,3_prime_UTR_variant,,ENST00000532504,;PPFIA1,3_prime_UTR_variant,,ENST00000526262,;PPFIA1,3_prime_UTR_variant,,ENST00000530294,;PPFIA1,3_prime_UTR_variant,,ENST00000526347,;PPFIA1,3_prime_UTR_variant,,ENST00000533894,;PPFIA1,upstream_gene_variant,,ENST00000530390,;PPFIA1,downstream_gene_variant,,ENST00000526369,;							LOW	2085/3609		LIPA1_HUMAN			Transcript			.	ENSP00000253925		CCDS31627.1			1	
DNM1L	0	LGGM	GRCh37	12	32895610	32895610	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	6	.	.	ENST00000549701.1:c.2082C>A	p.Ser694=	p.S694=	ENST00000549701		694	tcC/tcA	0	1	1	UPI00000721A1	0		ENST00000549701		ENSG00000087470	2973		83			HGNC	p.S696S		DNM1L		SNV			1				ENST00000381000	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS51388,hmmpanther:PTHR11566:SF39,hmmpanther:PTHR11566,Pfam_domain:PF02212,SMART_domains:SM00302		S		A		2156/2487				D3DUW5_HUMAN			YES	DNM1L,synonymous_variant,p.=,ENST00000452533,NM_012062.4,NM_012063.3;DNM1L,synonymous_variant,p.=,ENST00000381000,NM_001278465.1;DNM1L,synonymous_variant,p.=,ENST00000358214,;DNM1L,synonymous_variant,p.=,ENST00000266481,NM_005690.4;DNM1L,synonymous_variant,p.=,ENST00000553257,NM_001278464.1;DNM1L,synonymous_variant,p.=,ENST00000549701,;DNM1L,synonymous_variant,p.=,ENST00000547312,NM_001278463.1;DNM1L,synonymous_variant,p.=,ENST00000414834,NM_001278466.1;YARS2,downstream_gene_variant,,ENST00000324868,NM_001040436.2;YARS2,intron_variant,,ENST00000551673,;DNM1L,3_prime_UTR_variant,,ENST00000546757,;DNM1L,3_prime_UTR_variant,,ENST00000546649,;DNM1L,non_coding_transcript_exon_variant,,ENST00000553031,;DNM1L,non_coding_transcript_exon_variant,,ENST00000547640,;YARS2,downstream_gene_variant,,ENST00000548490,;DNM1L,downstream_gene_variant,,ENST00000552743,;DNM1L,downstream_gene_variant,,ENST00000550093,;DNM1L,downstream_gene_variant,,ENST00000549157,;DNM1L,downstream_gene_variant,,ENST00000547078,;							LOW	2082/2211		DNM1L_HUMAN			Transcript			.	ENSP00000450399		CCDS8729.1			1	
IER3IP1	0	LGGM	GRCh37	18	44683862	44683862	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000256433.3:c.138G>T	p.Pro46=	p.P46=	ENST00000256433	NM_016097.4	46	ccG/ccT	0	1	1	UPI000007015F	0		ENST00000256433		ENSG00000134049	18550		96			HGNC	p.P46P		IER3IP1		SNV			1				ENST00000256433	protein_coding			hmmpanther:PTHR15858,hmmpanther:PTHR15858:SF0,Pfam_domain:PF08571		P		A		235/1481							YES	IER3IP1,synonymous_variant,p.=,ENST00000256433,NM_016097.4;IER3IP1,synonymous_variant,p.=,ENST00000588705,;IER3IP1,intron_variant,,ENST00000602926,;IER3IP1,intron_variant,,ENST00000602459,;							LOW	138/249		IR3IP_HUMAN			Transcript			.	ENSP00000256433		CCDS11933.1			1	
PAGE1	0	LGGM	GRCh37	X	49454087	49454087	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	104	6	.	.	ENST00000376150.3:c.352G>T	p.Gly118Ter	p.G118*	ENST00000376150	NM_003785.3	118	Gga/Tga	0	1	1	UPI000013C5CB	0	NA	ENST00000376150		ENSG00000068985	4107		110	0		HGNC	p.G118X		PAGE1		SNV							ENST00000376150	protein_coding	getma.org/?cm=var&var=hg19,X,49454087,C,A&fts=all		Pfam_domain:PF05831		G/*		A	NA	485/665		NA					YES	PAGE1,stop_gained,p.Gly118Ter,ENST00000376150,NM_003785.3;							HIGH	352/441	G118*	PAGE1_HUMAN			Transcript			.	ENSP00000365320		CCDS14327.1			1	
ENPEP	0	LGGM	GRCh37	4	111434612	111434612	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	6	.	.	ENST00000265162.5:c.1350G>T	p.Glu450Asp	p.E450D	ENST00000265162	NM_001977.3	450	gaG/gaT	0	1	1	UPI000013D5C6	0	getma.org/pdb.php?prot=AMPE_HUMAN&from=92&to=482&var=E450D	ENST00000265162		ENSG00000138792	3355		94	0.95		HGNC	p.E450D		ENPEP		SNV							ENST00000265162	protein_coding	getma.org/?cm=var&var=hg19,4,111434612,G,T&fts=all		Gene3D:1.10.390.10,Pfam_domain:PF01433,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165,Superfamily_domains:SSF55486		E/D		T	low	1692/6943		getma.org/?cm=msa&ty=f&p=AMPE_HUMAN&rb=92&re=482&var=E450D	tolerated(0.44)				YES	ENPEP,missense_variant,p.Glu450Asp,ENST00000265162,NM_001977.3;RP11-380D23.1,non_coding_transcript_exon_variant,,ENST00000503998,;ENPEP,upstream_gene_variant,,ENST00000509344,;							MODERATE	1350/2874	E450D	AMPE_HUMAN			Transcript		possibly_damaging(0.574)	.	ENSP00000265162		CCDS3691.1			1	
TAF1L	0	LGGM	GRCh37	9	32634153	32634153	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	6	.	.	ENST00000242310.4:c.1425C>A	p.Pro475=	p.P475=	ENST00000242310	NM_153809.2	475	ccC/ccA	0	1	1	UPI000007408A	0		ENST00000242310		ENSG00000122728	18056		90			HGNC	p.P475P		TAF1L		SNV							ENST00000242310	protein_coding			hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047		P		T		1515/6216							YES	TAF1L,synonymous_variant,p.=,ENST00000242310,NM_153809.2;RP11-555J4.4,non_coding_transcript_exon_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							LOW	1425/5481		TAF1L_HUMAN			Transcript			.	ENSP00000418379		CCDS35003.1			1	
FDXACB1	0	LGGM	GRCh37	11	111745984	111745984	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	99	6	.	.	ENST00000260257.4:c.1537C>A	p.Arg513Ser	p.R513S	ENST00000260257	NM_138378.2	513	Cgt/Agt	0	1	1	UPI00001C1EEE	0	NA	ENST00000260257		ENSG00000255561	25110		105	2.62		HGNC	p.R513S		FDXACB1		SNV							ENST00000260257	protein_coding	getma.org/?cm=var&var=hg19,11,111745984,G,T&fts=all		hmmpanther:PTHR11538,hmmpanther:PTHR11538:SF26,Gene3D:3.30.930.10		R/S		T	medium	1585/2789		getma.org/?cm=msa&ty=f&p=FDXA1_HUMAN&rb=378&re=529&var=R513S	deleterious(0)	B4DUU2_HUMAN			YES	FDXACB1,missense_variant,p.Arg513Ser,ENST00000260257,NM_138378.2;FDXACB1,missense_variant,p.Arg364Ser,ENST00000542429,;C11orf1,upstream_gene_variant,,ENST00000260276,NM_022761.2;ALG9,upstream_gene_variant,,ENST00000398006,NM_001077691.1,NM_001077690.1,NM_001077692.1;ALG9,upstream_gene_variant,,ENST00000531154,NM_024740.2;FDXACB1,downstream_gene_variant,,ENST00000528274,;C11orf1,upstream_gene_variant,,ENST00000530214,;C11orf1,upstream_gene_variant,,ENST00000528125,;C11orf1,upstream_gene_variant,,ENST00000530799,;ALG9,intron_variant,,ENST00000527377,;ALG9,intron_variant,,ENST00000526587,;ALG9,upstream_gene_variant,,ENST00000527228,;ALG9,upstream_gene_variant,,ENST00000524457,;ALG9,upstream_gene_variant,,ENST00000532374,;ALG9,upstream_gene_variant,,ENST00000527883,;ALG9,upstream_gene_variant,,ENST00000524386,;ALG9,upstream_gene_variant,,ENST00000529754,;ALG9,upstream_gene_variant,,ENST00000530723,;FDXACB1,3_prime_UTR_variant,,ENST00000531487,;ALG9,intron_variant,,ENST00000524880,;							MODERATE	1537/1875	R513S	FDXA1_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000260257		CCDS44729.1			1	
FSIP2	0	LGGM	GRCh37	2	186668267	186668267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	6	.	.	ENST00000343098.5:c.14501C>A	p.Pro4834Gln	p.P4834Q	ENST00000343098	NM_173651.2	4834	cCa/cAa	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		94	0.55		HGNC	p.P4745Q		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186668267,C,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		P/Q		A	neutral	14234/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=4711&re=4910&var=P4745Q						FSIP2,missense_variant,p.Pro4834Gln,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Pro4745Gln,ENST00000424728,;AC008174.3,upstream_gene_variant,,ENST00000436557,;AC008174.3,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;							MODERATE	14234/20724	P4745Q	FSIP2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000401306					1	
UGT8	0	LGGM	GRCh37	4	115597243	115597243	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	80	6	.	.	ENST00000310836.6:c.1425G>T	p.Leu475=	p.L475=	ENST00000310836	NM_001128174.1	475	ctG/ctT	0	1	1	UPI000013F094	0		ENST00000310836		ENSG00000174607	12555		86			HGNC	p.L475L		UGT8		SNV							ENST00000310836	protein_coding			Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF169,Transmembrane_helices:TMhelix		L		T		1947/4084				D6RFW2_HUMAN			YES	UGT8,synonymous_variant,p.=,ENST00000310836,NM_001128174.1;UGT8,synonymous_variant,p.=,ENST00000394511,NM_003360.3;							LOW	1425/1626		CGT_HUMAN			Transcript			.	ENSP00000311648		CCDS3705.1			1	
KIAA0368	0	LGGM	GRCh37	9	114199289	114199289	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	6	.	.	ENST00000259335.4:c.1173G>T	p.Pro391=	p.P391=	ENST00000259335	NM_001080398.1	391	ccG/ccT	0	1		UPI0002B83222	0		ENST00000338205		ENSG00000136813	29020		96			HGNC	p.P213P		KIAA0368		SNV							ENST00000338205	protein_coding			Pfam_domain:PF13001,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Low_complexity_(Seg):seg		P		A		859/7078								KIAA0368,synonymous_variant,p.=,ENST00000259335,NM_001080398.1;KIAA0368,synonymous_variant,p.=,ENST00000338205,;KIAA0368,synonymous_variant,p.=,ENST00000602447,;							LOW	639/5520		ECM29_HUMAN			Transcript			.	ENSP00000339889					1	
INTU	0	LGGM	GRCh37	4	128628054	128628054	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	106	6	.	.	ENST00000335251.6:c.2201C>A	p.Pro734Gln	p.P734Q	ENST00000335251	NM_015693.3	734	cCg/cAg	0	1	1	UPI00001C1E05	0	NA	ENST00000335251		ENSG00000164066	29239		112	1.67		HGNC	p.P734Q		INTU		SNV							ENST00000335251	protein_coding	getma.org/?cm=var&var=hg19,4,128628054,C,A&fts=all		hmmpanther:PTHR21082		P/Q		A	low	2304/13233		getma.org/?cm=msa&ty=f&p=INTU_HUMAN&rb=601&re=800&var=P734Q	deleterious(0.02)	B3KVS6_HUMAN			YES	INTU,missense_variant,p.Pro734Gln,ENST00000335251,NM_015693.3;INTU,downstream_gene_variant,,ENST00000506283,;INTU,downstream_gene_variant,,ENST00000512995,;INTU,missense_variant,p.Pro33Gln,ENST00000510766,;INTU,3_prime_UTR_variant,,ENST00000503626,;INTU,3_prime_UTR_variant,,ENST00000503952,;							MODERATE	2201/2829	P734Q	INTU_HUMAN			Transcript		possibly_damaging(0.753)	.	ENSP00000334003		CCDS34061.1			1	
SLC41A2	0	LGGM	GRCh37	12	105282904	105282904	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	6	.	.	ENST00000258538.3:c.787G>T	p.Gly263Cys	p.G263C	ENST00000258538	NM_032148.3	263	Ggc/Tgc	0	1	1	UPI00001FB431	0	NA	ENST00000258538		ENSG00000136052	31045		69	3.175		HGNC	p.G263C		SLC41A2		SNV							ENST00000258538	protein_coding	getma.org/?cm=var&var=hg19,12,105282904,C,A&fts=all		Superfamily_domains:0054748,Gene3D:2zy9B03,Pfam_domain:PF01769,hmmpanther:PTHR16228,hmmpanther:PTHR16228:SF25,Transmembrane_helices:TMhelix		G/C		A	medium	915/4449		getma.org/?cm=msa&ty=f&p=S41A2_HUMAN&rb=199&re=335&var=G263C	deleterious(0)	C9JYJ7_HUMAN,C9JKF2_HUMAN,C9JIL4_HUMAN,C9JDQ2_HUMAN,C9JCR2_HUMAN,C9JA64_HUMAN			YES	SLC41A2,missense_variant,p.Gly263Cys,ENST00000258538,NM_032148.3;SLC41A2,missense_variant,p.Gly119Cys,ENST00000437220,;							MODERATE	787/1722	G263C	S41A2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000258538		CCDS9100.2			1	
RBM41	0	LGGM	GRCh37	X	106359231	106359231	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	57	6	.	.	ENST00000372479.3:c.179G>T	p.Gly60Val	p.G60V	ENST00000372479	NM_018301.3	60	gGg/gTg	0	1	1	UPI000013CC0E	0	NA	ENST00000372479		ENSG00000089682	25617		63	0.805		HGNC	p.G60V		RBM41		SNV							ENST00000203616	protein_coding	getma.org/?cm=var&var=hg19,X,106359231,C,A&fts=all		hmmpanther:PTHR16105,hmmpanther:PTHR16105:SF1		G/V		A	low	210/1662		getma.org/?cm=msa&ty=f&p=RBM41_HUMAN&rb=1&re=264&var=G60V	tolerated(0.15)				YES	RBM41,missense_variant,p.Gly60Val,ENST00000372487,NM_001171080.1;RBM41,missense_variant,p.Gly60Val,ENST00000372479,NM_018301.3;RBM41,missense_variant,p.Gly60Val,ENST00000203616,;RBM41,missense_variant,p.Gly58Val,ENST00000434854,;RBM41,non_coding_transcript_exon_variant,,ENST00000471079,;RBM41,non_coding_transcript_exon_variant,,ENST00000485676,;RBM41,upstream_gene_variant,,ENST00000475556,;RBM41,missense_variant,p.Gly60Val,ENST00000495517,;							MODERATE	179/1242	G60V	RBM41_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361557		CCDS14526.1			1	
TSHR	0	LGGM	GRCh37	14	81574768	81574768	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	6	.	.	ENST00000298171.2:c.664G>T	p.Gly222Ter	p.G222*	ENST00000298171	NM_000369.2	222	Gga/Tga	0	1	1	UPI000013E4A2	0	NA	ENST00000541158		ENSG00000165409	12373		77	0		HGNC	p.G222X		TSHR		SNV			1				ENST00000342443	protein_coding	getma.org/?cm=var&var=hg19,14,81574768,G,T&fts=all		Prints_domain:PR01145,Superfamily_domains:SSF52058,Pfam_domain:PF13306,Gene3D:3.80.10.10,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF0		G/*		T	NA	986/4566		NA		Q0VAP8_HUMAN,F5GYU5_HUMAN			YES	TSHR,stop_gained,p.Gly222Ter,ENST00000541158,;TSHR,stop_gained,p.Gly222Ter,ENST00000298171,NM_000369.2;TSHR,stop_gained,p.Gly222Ter,ENST00000342443,NM_001142626.2,NM_001018036.2;TSHR,stop_gained,p.Gly222Ter,ENST00000554263,;TSHR,stop_gained,p.Gly222Ter,ENST00000554435,;RP11-114N19.3,intron_variant,,ENST00000557775,;TSHR,non_coding_transcript_exon_variant,,ENST00000556031,;							HIGH	664/2295	G222*				Transcript			.	ENSP00000441235		CCDS9872.1			1	
RB1CC1	0	LGGM	GRCh37	8	53570000	53570000	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	6	.	.	ENST00000025008.5:c.2389C>A	p.Gln797Lys	p.Q797K	ENST00000025008	NM_014781.4	797	Cag/Aag	0	1	1	UPI0000DBEF23	0	NA	ENST00000025008		ENSG00000023287	15574		81	0.695		HGNC	p.Q797K		RB1CC1		SNV							ENST00000435644	protein_coding	getma.org/?cm=var&var=hg19,8,53570000,G,T&fts=all		hmmpanther:PTHR13222:SF1,hmmpanther:PTHR13222		Q/K		T	neutral	2913/6635		getma.org/?cm=msa&ty=f&p=RBCC1_HUMAN&rb=613&re=812&var=Q797K	tolerated_low_confidence(0.42)	E5RH63_HUMAN,B4DGF9_HUMAN			YES	RB1CC1,missense_variant,p.Gln797Lys,ENST00000025008,NM_014781.4;RB1CC1,missense_variant,p.Gln797Lys,ENST00000435644,NM_001083617.1;RB1CC1,missense_variant,p.Gln797Lys,ENST00000539297,;RB1CC1,intron_variant,,ENST00000521611,;RB1CC1,downstream_gene_variant,,ENST00000523594,;							MODERATE	2389/4785	Q797K	RBCC1_HUMAN			Transcript		benign(0.018)	.	ENSP00000025008		CCDS34892.1			1	
ZNF512	0	LGGM	GRCh37	2	27822524	27822524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	6	.	.	ENST00000355467.4:c.352C>A	p.Gln118Lys	p.Q118K	ENST00000355467	NM_001271289.1	118	Cag/Aag	0	1	1	UPI0000141030	0	NA	ENST00000355467		ENSG00000243943	29380		48	0.345		HGNC	p.Q117K		ZNF512		SNV							ENST00000416005	protein_coding	getma.org/?cm=var&var=hg19,2,27822524,C,A&fts=all		hmmpanther:PTHR22979:SF2,hmmpanther:PTHR22979		Q/K		A	neutral	435/3541		getma.org/?cm=msa&ty=f&p=ZN512_HUMAN&rb=1&re=200&var=Q118K	tolerated(0.63)	Q658M0_HUMAN			YES	ZNF512,missense_variant,p.Gln118Lys,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,missense_variant,p.Gln117Lys,ENST00000379717,;ZNF512,missense_variant,p.Gln117Lys,ENST00000416005,NM_001271286.1;ZNF512,missense_variant,p.Gln41Lys,ENST00000413371,;ZNF512,synonymous_variant,p.=,ENST00000556601,;RP11-158I13.2,non_coding_transcript_exon_variant,,ENST00000505973,;ZNF512,non_coding_transcript_exon_variant,,ENST00000494548,;ZNF512,downstream_gene_variant,,ENST00000461705,;							MODERATE	352/1704	Q118K	ZN512_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000347648		CCDS1758.1			1	
TREM2	0	LGGM	GRCh37	6	41129162	41129162	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	22	6	.	.	ENST00000373113.3:c.230G>T	p.Arg77Met	p.R77M	ENST00000373113	NM_018965.3	77	aGg/aTg	0	1	1	UPI0000071EEB	0	getma.org/pdb.php?prot=TREM2_HUMAN&from=14&to=128&var=R77M	ENST00000373113		ENSG00000095970	17761		28	2.07		HGNC	p.R77M		TREM2		SNV			1				ENST00000373113	protein_coding	getma.org/?cm=var&var=hg19,6,41129162,C,A&fts=all		Superfamily_domains:SSF48726,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF37		R/M		A	medium	324/1044		getma.org/?cm=msa&ty=f&p=TREM2_HUMAN&rb=14&re=128&var=R77M	deleterious(0.04)	Q5TCX1_HUMAN,E3WHI5_HUMAN			YES	TREM2,missense_variant,p.Arg77Met,ENST00000373113,NM_018965.3;TREM2,missense_variant,p.Arg77Met,ENST00000373122,;TREM2,missense_variant,p.Arg77Met,ENST00000338469,NM_001271821.1;							MODERATE	230/693	R77M	TREM2_HUMAN			Transcript		benign(0.238)	.	ENSP00000362205		CCDS4852.1			1	
ZNF217	0	LGGM	GRCh37	20	52193233	52193233	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	78	6	.	.	ENST00000371471.2:c.2070C>A	p.Ser690=	p.S690=	ENST00000371471		690	tcC/tcA	0	1		UPI000013C323	0		ENST00000302342		ENSG00000171940	13009		84			HGNC	p.S690S		ZNF217		SNV							ENST00000302342	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF6		S		T		2341/5633				A2A326_HUMAN				ZNF217,synonymous_variant,p.=,ENST00000371471,;ZNF217,synonymous_variant,p.=,ENST00000302342,NM_006526.2;ZNF217,upstream_gene_variant,,ENST00000437222,;RP4-724E16.2,downstream_gene_variant,,ENST00000424252,;							LOW	2070/3147		ZN217_HUMAN			Transcript			.	ENSP00000304308		CCDS13443.1			1	
AOAH	0	LGGM	GRCh37	7	36571769	36571769	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	27	6	.	.	ENST00000258749.5:c.1409G>T	p.Arg470Leu	p.R470L	ENST00000258749	NM_001637.3	470	cGg/cTg	0	1	1	UPI0000001291	0		ENST00000258749		ENSG00000136250	548		33			HGNC	p.R438L		AOAH		SNV							ENST00000535891	protein_coding			hmmpanther:PTHR15010,Pfam_domain:PF00657,Gene3D:3.40.50.1110		R/L		A		1809/2379			deleterious(0)				YES	AOAH,missense_variant,p.Arg470Leu,ENST00000431169,NM_001177506.1;AOAH,missense_variant,p.Arg470Leu,ENST00000258749,NM_001637.3;AOAH,missense_variant,p.Arg438Leu,ENST00000535891,NM_001177507.1;AOAH,missense_variant,p.Arg192Leu,ENST00000538464,;AOAH,non_coding_transcript_exon_variant,,ENST00000491444,;AOAH,downstream_gene_variant,,ENST00000487014,;AOAH,upstream_gene_variant,,ENST00000483864,;AOAH,downstream_gene_variant,,ENST00000495942,;							MODERATE	1409/1728		AOAH_HUMAN			Transcript		benign(0.359)	.	ENSP00000258749		CCDS5448.1			1	
SH3KBP1	0	LGGM	GRCh37	X	19587241	19587241	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	100	6	.	.	ENST00000397821.3:c.1364C>A	p.Ser455Ter	p.S455*	ENST00000397821	NM_031892.2	455	tCg/tAg	0	1	1	UPI000006CC82	0	NA	ENST00000397821		ENSG00000147010	13867		106	0		HGNC	p.S418X		SH3KBP1		SNV							ENST00000379698	protein_coding	getma.org/?cm=var&var=hg19,X,19587241,G,T&fts=all		hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF6		S/*		T	NA	1655/4731		NA		Q5JPT6_HUMAN,B7Z6E8_HUMAN			YES	SH3KBP1,stop_gained,p.Ser455Ter,ENST00000397821,NM_031892.2;SH3KBP1,stop_gained,p.Ser217Ter,ENST00000379716,NM_001184960.1;SH3KBP1,stop_gained,p.Ser418Ter,ENST00000379698,NM_001024666.2;SH3KBP1,stop_gained,p.Ser435Ter,ENST00000379726,;SH3KBP1,stop_gained,p.Ser194Ter,ENST00000541422,;							HIGH	1364/1998	S455*	SH3K1_HUMAN			Transcript			.	ENSP00000380921		CCDS14193.1			1	
FNIP2	0	LGGM	GRCh37	4	159789253	159789253	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	104	7	.	.	ENST00000264433.6:c.1466-1G>T		p.X489_splice	ENST00000264433	NM_020840.1			0	1	1	UPI00001C1E0A	0		ENST00000264433		ENSG00000052795	29280		111			HGNC	-		FNIP2		SNV							ENST00000264433	protein_coding							T		-/6925							YES	FNIP2,splice_acceptor_variant,,ENST00000264433,NM_020840.1;FNIP2,splice_acceptor_variant,,ENST00000379346,;FNIP2,splice_acceptor_variant,,ENST00000512986,;FNIP2,upstream_gene_variant,,ENST00000505130,;							HIGH	1466/3345		FNIP2_HUMAN			Transcript			.	ENSP00000264433		CCDS47155.1			1	
PTPLAD2	0	LGGM	GRCh37	9	21029398	21029398	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	76	7	.	.	ENST00000495827.2:c.39-1G>T		p.X13_splice	ENST00000495827	NM_001010915.3			0	1	1	UPI0000251F91	0		ENST00000495827		ENSG00000188921	20920		83			HGNC	-		PTPLAD2		SNV							ENST00000513293	protein_coding							A		-/8267							YES	PTPLAD2,splice_acceptor_variant,,ENST00000495827,NM_001010915.3;PTPLAD2,splice_acceptor_variant,,ENST00000513293,;PTPLAD2,upstream_gene_variant,,ENST00000488436,;							HIGH	39/699		HACD4_HUMAN			Transcript			.	ENSP00000419503		CCDS43791.1			1	
CLTA	0	LGGM	GRCh37	9	36209263	36209263	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	7	.	.	ENST00000242285.6:c.486-1G>T		p.X162_splice	ENST00000242285				0	1	1	UPI0000127A9E	0		ENST00000242285		ENSG00000122705	2090		70			HGNC	-		CLTA		SNV							ENST00000433436	protein_coding							T		-/1152							YES	CLTA,splice_acceptor_variant,,ENST00000433436,NM_007096.3;CLTA,splice_acceptor_variant,,ENST00000242285,;CLTA,splice_acceptor_variant,,ENST00000396603,NM_001076677.2;CLTA,splice_acceptor_variant,,ENST00000466396,;CLTA,intron_variant,,ENST00000538225,NM_001184760.1;CLTA,intron_variant,,ENST00000470744,;CLTA,intron_variant,,ENST00000345519,NM_001184761.1,NM_001833.3;CLTA,intron_variant,,ENST00000540080,NM_001184762.1;CLTA,intron_variant,,ENST00000464497,;CLTA,intron_variant,,ENST00000493185,;							HIGH	486/747		CLCA_HUMAN			Transcript			.	ENSP00000242285		CCDS6601.1			1	
ZNF225	0	LGGM	GRCh37	19	44636456	44636456	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	125	7	.	.	ENST00000262894.6:c.1689C>A	p.Thr563=	p.T563=	ENST00000262894	NM_013362.2	563	acC/acA	0	1	1	UPI000016960F	0		ENST00000262894		ENSG00000256294	13018		132			HGNC	p.T563T		ZNF225		SNV							ENST00000262894	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		T		A		1969/2495				K7ERU6_HUMAN,K7ENA2_HUMAN			YES	ZNF225,synonymous_variant,p.=,ENST00000262894,NM_013362.2;ZNF225,synonymous_variant,p.=,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,;							LOW	1689/2121		ZN225_HUMAN			Transcript			.	ENSP00000262894		CCDS46100.1			1	
MKRN2	0	LGGM	GRCh37	3	12623664	12623664	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	110	7	.	.	ENST00000170447.7:c.1163G>T	p.Arg388Leu	p.R388L	ENST00000170447	NM_014160.4	388	cGg/cTg	0	1	1	UPI000007116E	0	NA	ENST00000170447		ENSG00000075975	7113		117	2.28		HGNC	p.R345L		MKRN2		SNV							ENST00000411987	protein_coding	getma.org/?cm=var&var=hg19,3,12623664,G,T&fts=all		hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF17		R/L		T	medium	1300/2848		getma.org/?cm=msa&ty=f&p=MKRN2_HUMAN&rb=295&re=416&var=R388L	deleterious(0.04)				YES	MKRN2,missense_variant,p.Arg388Leu,ENST00000170447,NM_014160.4,NM_001271707.1;MKRN2,missense_variant,p.Arg386Leu,ENST00000448482,;MKRN2,missense_variant,p.Arg345Leu,ENST00000411987,;RAF1,downstream_gene_variant,,ENST00000251849,NM_002880.3;RAF1,downstream_gene_variant,,ENST00000442415,;RAF1,downstream_gene_variant,,ENST00000542177,;RAF1,downstream_gene_variant,,ENST00000432427,;RAF1,downstream_gene_variant,,ENST00000534997,;RAF1,downstream_gene_variant,,ENST00000423275,;RAF1,downstream_gene_variant,,ENST00000465826,;RAF1,downstream_gene_variant,,ENST00000471449,;							MODERATE	1163/1251	R388L	MKRN2_HUMAN			Transcript		benign(0.366)	.	ENSP00000170447		CCDS33702.1			1	
FLG	0	LGGM	GRCh37	1	152282312	152282312	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	113	7	.	.	ENST00000368799.1:c.5050C>A	p.Arg1684Ser	p.R1684S	ENST00000368799	NM_002016.1	1684	Cgc/Agc	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		120	1.355		HGNC	p.R1684S	rs766130240	FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152282312,G,T&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516		R/S		T	low	5086/12747	1.50E-05	getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1671&re=1725&var=R1684S		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Arg1684Ser,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							MODERATE	5050/12186	R1684S	FILA_HUMAN			Transcript		possibly_damaging(0.683)	.	ENSP00000357789	8.24E-06	CCDS30860.1			1	
MBIP	0	LGGM	GRCh37	14	36781186	36781186	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	87	7	.	.	ENST00000416007.4:c.616G>T	p.Gly206Ter	p.G206*	ENST00000416007	NM_016586.2	206	Gga/Tga	0	1	1	UPI00001FD419	0	NA	ENST00000416007		ENSG00000151332	20427		94	0		HGNC	p.G166X		MBIP		SNV							ENST00000553298	protein_coding	getma.org/?cm=var&var=hg19,14,36781186,C,A&fts=all		hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF3		G/*		A	NA	704/1642		NA					YES	MBIP,stop_gained,p.Gly206Ter,ENST00000416007,NM_016586.2,NM_001144891.1;MBIP,stop_gained,p.Gly206Ter,ENST00000318473,;MBIP,stop_gained,p.Gly206Ter,ENST00000359527,;MBIP,stop_gained,p.Gly203Ter,ENST00000605579,;MBIP,stop_gained,p.Gly213Ter,ENST00000604336,;MBIP,stop_gained,p.Gly166Ter,ENST00000603139,;MBIP,downstream_gene_variant,,ENST00000604160,;MBIP,non_coding_transcript_exon_variant,,ENST00000603913,;MBIP,upstream_gene_variant,,ENST00000604768,;							HIGH	616/1035	G206*	MBIP1_HUMAN			Transcript			.	ENSP00000399718		CCDS9658.1			1	
THSD7A	0	LGGM	GRCh37	7	11418812	11418812	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	82	7	.	.	ENST00000423059.4:c.4686C>A	p.Pro1562=	p.P1562=	ENST00000423059	NM_015204.2	1562	ccC/ccA	0	1	1	UPI00006C0B74	0		ENST00000423059		ENSG00000005108	22207		89			HGNC	p.P1562P		THSD7A		SNV							ENST00000423059	protein_coding			hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8		P		T		4938/10663							YES	THSD7A,synonymous_variant,p.=,ENST00000423059,NM_015204.2;AC004538.3,non_coding_transcript_exon_variant,,ENST00000595972,;AC004538.3,intron_variant,,ENST00000421121,;AC004538.3,intron_variant,,ENST00000428533,;AC004538.3,intron_variant,,ENST00000428967,;AC004538.3,intron_variant,,ENST00000445839,;AC004538.3,downstream_gene_variant,,ENST00000599875,;THSD7A,non_coding_transcript_exon_variant,,ENST00000408005,;							LOW	4686/4974		THS7A_HUMAN			Transcript			.	ENSP00000406482		CCDS47543.1			1	
ZFPM2	0	LGGM	GRCh37	8	106815701	106815701	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	137	7	.	.	ENST00000407775.2:c.3391C>A	p.Leu1131Ile	p.L1131I	ENST00000407775	NM_012082.3	1131	Ctt/Att	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		144	1.295		HGNC	p.L999I		ZFPM2		SNV			1				ENST00000520492	protein_coding	getma.org/?cm=var&var=hg19,8,106815701,C,A&fts=all		Pfam_domain:PF13912,hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/I		A	low	3641/4700		getma.org/?cm=msa&ty=f&p=FOG2_HUMAN&rb=1098&re=1151&var=L1131I	deleterious(0)	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,missense_variant,p.Leu1131Ile,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Leu999Ile,ENST00000520492,;ZFPM2,missense_variant,p.Leu999Ile,ENST00000517361,;ZFPM2,missense_variant,p.Leu862Ile,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							MODERATE	3391/3456	L1131I	FOG2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000384179		CCDS47908.1			1	
OR2T29	0	LGGM	GRCh37	1	248722790	248722790	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	36	7	.	.	ENST00000328570.3:c.3G>T	p.Met1?	p.M1?	ENST00000328570	NM_001004694.2	1	atG/atT	0	1	1	UPI000004F23C	0	NA	ENST00000328570		ENSG00000182783	31253		43	0		HGNC	p.M1I		OR2T29		SNV							ENST00000328570	protein_coding	getma.org/?cm=var&var=hg19,1,248722790,C,A&fts=all				M/I		A	NA	8/1014		http://getma.org/?cm=msa&ty=f&p=O2T29_HUMAN&rb=1&re=142&var=M1I	deleterious_low_confidence(0.01)				YES	OR2T29,start_lost,p.Met1?,ENST00000328570,NM_001004694.2;RP11-438F14.3,intron_variant,,ENST00000438623,;RP11-438F14.3,upstream_gene_variant,,ENST00000436515,;							HIGH	3/948	M1I	O2T29_HUMAN			Transcript		benign(0.291)	.	ENSP00000331774		CCDS55695.1			1	
PIGM	0	LGGM	GRCh37	1	160000778	160000778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	119	7	.	.	ENST00000368090.2:c.752G>T	p.Trp251Leu	p.W251L	ENST00000368090	NM_145167.2	251	tGg/tTg	0	1	1	UPI000006D9D7	0	NA	ENST00000368090		ENSG00000143315	18858		126	1.81		HGNC	p.W251L		PIGM		SNV			1				ENST00000368090	protein_coding	getma.org/?cm=var&var=hg19,1,160000778,C,A&fts=all		Pfam_domain:PF05007,hmmpanther:PTHR12886,hmmpanther:PTHR12886:SF0		W/L		A	low	1006/4322		getma.org/?cm=msa&ty=f&p=PIGM_HUMAN&rb=140&re=408&var=W251L	tolerated(0.1)				YES	PIGM,missense_variant,p.Trp251Leu,ENST00000368090,NM_145167.2;RP11-226L15.5,upstream_gene_variant,,ENST00000562313,;							MODERATE	752/1272	W251L	PIGM_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000357069		CCDS1192.1			1	
LAMC2	0	LGGM	GRCh37	1	183177058	183177058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	138	7	.	.	ENST00000264144.4:c.122G>T	p.Arg41Leu	p.R41L	ENST00000264144	NM_005562.2	41	cGg/cTg	0	1	1	UPI000013D4CA	0	getma.org/pdb.php?prot=LAMC2_HUMAN&from=28&to=81&var=R41L	ENST00000264144		ENSG00000058085	6493		145	0.32		HGNC	p.R41L	COSM3671545	LAMC2		SNV			1			1	ENST00000493293	protein_coding	getma.org/?cm=var&var=hg19,1,183177058,G,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF79,SMART_domains:SM00180,Superfamily_domains:SSF57196		R/L		T	neutral	187/5147		getma.org/?cm=msa&ty=f&p=LAMC2_HUMAN&rb=28&re=81&var=R41L	tolerated(0.7)				YES	LAMC2,missense_variant,p.Arg41Leu,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.Arg41Leu,ENST00000493293,NM_018891.2;					1		MODERATE	122/3582	R41L	LAMC2_HUMAN			Transcript		benign(0.012)	.	ENSP00000264144		CCDS1352.1			1	
NCKAP5	0	LGGM	GRCh37	2	133542704	133542704	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	7	.	.	ENST00000409261.1:c.1680G>T	p.Gln560His	p.Q560H	ENST00000409261	NM_207363.2	560	caG/caT	0	1	1	UPI0000E07A3F	0	NA	ENST00000409261		ENSG00000176771	29847		91	0.975		HGNC	p.Q560H		NCKAP5		SNV							ENST00000317721	protein_coding	getma.org/?cm=var&var=hg19,2,133542704,C,A&fts=all		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0		Q/H		A	low	2054/7592		getma.org/?cm=msa&ty=f&p=NCKP5_HUMAN&rb=241&re=1908&var=Q560H	deleterious(0.03)	C9JYL7_HUMAN			YES	NCKAP5,missense_variant,p.Gln560His,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Gln560His,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;							MODERATE	1680/5730	Q560H	NCKP5_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000387128		CCDS46418.1			1	
WDR17	0	LGGM	GRCh37	4	177077231	177077231	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	107	7	.	.	ENST00000280190.4:c.2534G>T	p.Trp845Leu	p.W845L	ENST00000280190		845	tGg/tTg	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		114	2.36		HGNC	p.W845L		WDR17		SNV							ENST00000280190	protein_coding	getma.org/?cm=var&var=hg19,4,177077231,G,T&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF344		W/L		T	medium	2690/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=775&re=1320&var=W845L	deleterious(0)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Trp821Leu,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Trp88Leu,ENST00000443118,;WDR17,missense_variant,p.Trp845Leu,ENST00000280190,;WDR17,missense_variant,p.Trp821Leu,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Trp828Leu,ENST00000507824,;							MODERATE	2534/3969	W845L	WDR17_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000280190		CCDS3825.1			1	
LEPREL4	0	LGGM	GRCh37	17	39967440	39967440	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	43	7	.	.	ENST00000355468.3:c.559G>T	p.Gly187Trp	p.G187W	ENST00000355468		187	Ggg/Tgg	0	1	1	UPI00001302A2	0	NA	ENST00000355468		ENSG00000141696	16946		50	1.39		HGNC	p.G187W		LEPREL4		SNV							ENST00000355468	protein_coding	getma.org/?cm=var&var=hg19,17,39967440,C,A&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR13986,hmmpanther:PTHR13986:SF4		G/W		A	low	1026/2791		getma.org/?cm=msa&ty=f&p=SC65_HUMAN&rb=1&re=200&var=G187W	deleterious(0)	K7EJ03_HUMAN,B4DVZ5_HUMAN			YES	LEPREL4,missense_variant,p.Gly187Trp,ENST00000355468,;LEPREL4,missense_variant,p.Gly187Trp,ENST00000393928,NM_006455.2;LEPREL4,missense_variant,p.Gly69Trp,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,non_coding_transcript_exon_variant,,ENST00000467164,;FKBP10,upstream_gene_variant,,ENST00000489591,;LEPREL4,upstream_gene_variant,,ENST00000484247,;LEPREL4,upstream_gene_variant,,ENST00000465097,;LEPREL4,upstream_gene_variant,,ENST00000587455,;							MODERATE	559/1314	G187W	SC65_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000347649		CCDS11408.1			1	
TCHHL1	0	LGGM	GRCh37	1	152060546	152060546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	112	7	.	.	ENST00000368806.1:c.74G>T	p.Gly25Val	p.G25V	ENST00000368806	NM_001008536.1	25	gGg/gTg	0	1	1	UPI0000496834	0	NA	ENST00000368806		ENSG00000182898	31796		119	1.15		HGNC	p.G25V		TCHHL1		SNV							ENST00000368806	protein_coding	getma.org/?cm=var&var=hg19,1,152060546,C,A&fts=all		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53,Pfam_domain:PF01023,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		G/V		A	low	139/3603		getma.org/?cm=msa&ty=f&p=TCHL1_HUMAN&rb=4&re=47&var=G25V	tolerated(0.18)				YES	TCHHL1,missense_variant,p.Gly25Val,ENST00000368806,NM_001008536.1;							MODERATE	74/2715	G25V	TCHL1_HUMAN			Transcript		benign(0.124)	.	ENSP00000357796		CCDS30857.1			1	
HMCN1	0	LGGM	GRCh37	1	185959525	185959525	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	7	.	.	ENST00000271588.4:c.3327C>A	p.Pro1109=	p.P1109=	ENST00000271588	NM_031935.2	1109	ccC/ccA	0	1	1	UPI0000458C0E	0		ENST00000271588		ENSG00000143341	19194		97			HGNC	p.P1109P		HMCN1		SNV			1				ENST00000271588	protein_coding			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		P		A		3556/18208							YES	HMCN1,synonymous_variant,p.=,ENST00000271588,NM_031935.2;HMCN1,synonymous_variant,p.=,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;							LOW	3327/16908		HMCN1_HUMAN			Transcript			.	ENSP00000271588		CCDS30956.1			1	
C20orf26	0	LGGM	GRCh37	20	20340915	20340915	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	155	7	.	.	ENST00000245957.5:c.3575C>A	p.Pro1192Gln	p.P1192Q	ENST00000245957	NM_015585.3	1192	cCg/cAg	0	1	1	UPI0000206AE4	0	NA	ENST00000245957		ENSG00000089101	15872		162	0.345		HGNC	p.P1192Q		C20orf26		SNV							ENST00000245957	protein_coding	getma.org/?cm=var&var=hg19,20,20340915,C,A&fts=all		hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178		P/Q		A	neutral	3651/4082		getma.org/?cm=msa&ty=f&p=CT026_HUMAN&rb=1&re=1234&var=P1192Q	deleterious(0.01)	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN			YES	C20orf26,missense_variant,p.Pro1192Gln,ENST00000245957,NM_015585.3;C20orf26,3_prime_UTR_variant,,ENST00000377309,;C20orf26,3_prime_UTR_variant,,ENST00000377308,;							MODERATE	3575/3714	P1192Q	CT026_HUMAN			Transcript		benign(0.017)	.	ENSP00000245957		CCDS33447.1			1	
STXBP1	0	LGGM	GRCh37	9	130422361	130422361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	63	7	.	.	ENST00000373302.3:c.299G>T	p.Arg100Leu	p.R100L	ENST00000373302	NM_003165.3	100	cGg/cTg	0	1		UPI0000000ED9	0	getma.org/pdb.php?prot=STXB1_HUMAN&from=28&to=582&var=R100L	ENST00000373299		ENSG00000136854	11444		70	2.12		HGNC	p.R100L		STXBP1		SNV			1				ENST00000373302	protein_coding	getma.org/?cm=var&var=hg19,9,130422361,G,T&fts=all		hmmpanther:PTHR11679:SF35,hmmpanther:PTHR11679,Gene3D:3.40.50.2060,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815		R/L		T	medium	414/3759		getma.org/?cm=msa&ty=f&p=STXB1_HUMAN&rb=28&re=582&var=R100L	deleterious(0)	Q68CM6_HUMAN,Q59GC9_HUMAN				STXBP1,missense_variant,p.Arg100Leu,ENST00000373302,NM_003165.3;STXBP1,missense_variant,p.Arg100Leu,ENST00000373299,NM_001032221.3;STXBP1,upstream_gene_variant,,ENST00000496504,;STXBP1,upstream_gene_variant,,ENST00000495829,;							MODERATE	299/1785	R100L	STXB1_HUMAN			Transcript		benign(0.154)	.	ENSP00000362396		CCDS35146.1			1	
CEP70	0	LGGM	GRCh37	3	138218978	138218978	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	121	7	.	.	ENST00000264982.3:c.1626G>T	p.Gln542His	p.Q542H	ENST00000264982	NM_024491.2	542	caG/caT	0	1	1	UPI000013D5A3	0	NA	ENST00000264982		ENSG00000114107	29972		128	1.43		HGNC	p.Q522H		CEP70		SNV							ENST00000542237	protein_coding	getma.org/?cm=var&var=hg19,3,138218978,C,A&fts=all		hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594		Q/H		A	low	1893/2732		getma.org/?cm=msa&ty=f&p=CEP70_HUMAN&rb=340&re=595&var=Q542H	deleterious(0.02)	C9JZ04_HUMAN,C9J0F4_HUMAN			YES	CEP70,missense_variant,p.Gln542His,ENST00000264982,NM_024491.2;CEP70,missense_variant,p.Gln522His,ENST00000542237,;CEP70,missense_variant,p.Gln542His,ENST00000481834,;CEP70,missense_variant,p.Gln524His,ENST00000474781,;CEP70,missense_variant,p.Gln542His,ENST00000484888,;CEP70,missense_variant,p.Gln390His,ENST00000489254,;CEP70,missense_variant,p.Gln15His,ENST00000459695,;							MODERATE	1626/1794	Q542H	CEP70_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000264982		CCDS3102.1			1	
LARS	0	LGGM	GRCh37	5	145523098	145523098	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	126	7	.	.	ENST00000394434.2:c.1754G>T	p.Trp585Leu	p.W585L	ENST00000394434	NM_020117.9	585	tGg/tTg	0	1	1	UPI0000037316	0	getma.org/pdb.php?prot=SYLC_HUMAN&from=165&to=756&var=W585L	ENST00000394434		ENSG00000133706	6512		133	4.125		HGNC	p.W531L		LARS		SNV			1				ENST00000510191	protein_coding	getma.org/?cm=var&var=hg19,5,145523098,C,A&fts=all		hmmpanther:PTHR11946:SF51,hmmpanther:PTHR11946,Pfam_domain:PF00133,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00395,Superfamily_domains:SSF52374		W/L		A	high	1921/4766		getma.org/?cm=msa&ty=f&p=SYLC_HUMAN&rb=165&re=756&var=W585L	deleterious(0)	Q9NVC0_HUMAN,Q9NPU8_HUMAN,Q9HAM7_HUMAN,Q2TU79_HUMAN,B4DJ10_HUMAN,B3KXA9_HUMAN			YES	LARS,missense_variant,p.Trp585Leu,ENST00000394434,NM_020117.9;LARS,missense_variant,p.Trp558Leu,ENST00000274562,;LARS,missense_variant,p.Trp539Leu,ENST00000545646,;LARS,missense_variant,p.Trp531Leu,ENST00000510191,;LARS,non_coding_transcript_exon_variant,,ENST00000512412,;LARS,non_coding_transcript_exon_variant,,ENST00000507095,;LARS,non_coding_transcript_exon_variant,,ENST00000508667,;LARS,non_coding_transcript_exon_variant,,ENST00000504323,;LARS,non_coding_transcript_exon_variant,,ENST00000514104,;RP11-449H3.2,downstream_gene_variant,,ENST00000495857,;							MODERATE	1754/3531	W585L	SYLC_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000377954		CCDS34265.1			1	
CAPRIN2	0	LGGM	GRCh37	12	30863230	30863230	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	7	.	.	ENST00000298892.5:c.2840G>T	p.Arg947Leu	p.R947L	ENST00000298892	NM_023925.3	947	cGa/cTa	0	1	1	UPI000007080A	0	getma.org/pdb.php?prot=CAPR2_HUMAN&from=993&to=1127&var=R997L	ENST00000298892		ENSG00000110888	21259		91	2		HGNC	p.R947L		CAPRIN2		SNV							ENST00000298892	protein_coding	getma.org/?cm=var&var=hg19,12,30863230,C,A&fts=all		PROSITE_profiles:PS50871,hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5,Gene3D:2.60.120.40,SMART_domains:SM00110,Superfamily_domains:SSF49842		R/L		A	medium	3591/4334		getma.org/?cm=msa&ty=f&p=CAPR2_HUMAN&rb=993&re=1127&var=R997L	deleterious(0)	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN			YES	CAPRIN2,missense_variant,p.Arg997Leu,ENST00000251071,NM_032156.3,NM_001002259.1;CAPRIN2,missense_variant,p.Arg663Leu,ENST00000308433,;CAPRIN2,missense_variant,p.Arg947Leu,ENST00000298892,NM_023925.3;CAPRIN2,3_prime_UTR_variant,,ENST00000395805,NM_001206856.1;CAPRIN2,3_prime_UTR_variant,,ENST00000433722,;CAPRIN2,downstream_gene_variant,,ENST00000417045,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;							MODERATE	2840/3234	R997L	CAPR2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000298892		CCDS8720.1			1	
ZNF160	0	LGGM	GRCh37	19	53573192	53573192	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	121	7	.	.	ENST00000429604.1:c.595G>T	p.Gly199Trp	p.G199W	ENST00000429604	NM_198893.2	199	Ggg/Tgg	0	1		UPI0000202B37	0	NA	ENST00000418871		ENSG00000170949	12948		128	0.935		HGNC	p.G199W		ZNF160		SNV							ENST00000429604	protein_coding	getma.org/?cm=var&var=hg19,19,53573192,C,A&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132		G/W		A	low	894/4219		getma.org/?cm=msa&ty=f&p=ZN160_HUMAN&rb=49&re=248&var=G199W	deleterious(0)	M0QZI7_HUMAN,M0QZ49_HUMAN,M0QXU9_HUMAN				ZNF160,missense_variant,p.Gly163Trp,ENST00000601421,;ZNF160,missense_variant,p.Gly199Trp,ENST00000429604,NM_198893.2,NM_001102603.1;ZNF160,missense_variant,p.Gly199Trp,ENST00000599056,;ZNF160,missense_variant,p.Gly199Trp,ENST00000418871,NM_033288.3;ZNF160,missense_variant,p.Gly199Trp,ENST00000599247,;ZNF160,downstream_gene_variant,,ENST00000355147,;ZNF160,downstream_gene_variant,,ENST00000601982,;							MODERATE	595/2457	G199W	ZN160_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000409597		CCDS12859.1			1	
VPS45	0	LGGM	GRCh37	1	150064082	150064082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	141	7	.	.	ENST00000369130.3:c.1156C>A	p.Arg386Ser	p.R386S	ENST00000369130	NM_001279354.1	386	Cgc/Agc	0	1	1	UPI00000015E6	0	getma.org/pdb.php?prot=VPS45_HUMAN&from=22&to=547&var=R386S	ENST00000369130		ENSG00000136631	14579		148	2.74		HGNC	p.R386S	COSM303551	VPS45		SNV			1			1	ENST00000369130	protein_coding	getma.org/?cm=var&var=hg19,1,150064082,C,A&fts=all		Gene3D:1.25.40.60,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF3,Superfamily_domains:SSF56815		R/S		A	medium	1702/2790		getma.org/?cm=msa&ty=f&p=VPS45_HUMAN&rb=22&re=547&var=R386S	deleterious(0.02)				YES	VPS45,missense_variant,p.Arg386Ser,ENST00000369130,NM_001279354.1,NM_007259.4;VPS45,missense_variant,p.Arg281Ser,ENST00000369128,NM_001279353.1;VPS45,missense_variant,p.Arg317Ser,ENST00000535106,;VPS45,downstream_gene_variant,,ENST00000419023,;VPS45,upstream_gene_variant,,ENST00000472756,;					1		MODERATE	1156/1713	R386S	VPS45_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000358126		CCDS944.1			1	
PCNXL2	0	LGGM	GRCh37	1	233398835	233398835	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	144	7	.	.	ENST00000258229.9:c.228G>T	p.Leu76=	p.L76=	ENST00000258229	NM_014801.3	76	ctG/ctT	0	1	1	UPI0000F58F23	0		ENST00000258229		ENSG00000135749	8736		151			HGNC	p.L76L		PCNXL2		SNV							ENST00000258229	protein_coding			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5,Transmembrane_helices:TMhelix		L		A		463/7518				B3KNZ5_HUMAN			YES	PCNXL2,synonymous_variant,p.=,ENST00000258229,NM_014801.3;PCNXL2,5_prime_UTR_variant,,ENST00000430153,;PCNXL2,upstream_gene_variant,,ENST00000475463,;							LOW	228/6414		PCX2_HUMAN			Transcript			.	ENSP00000258229		CCDS44335.1			1	
PLCE1	0	LGGM	GRCh37	10	95791714	95791714	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	7	.	.	ENST00000371380.3:c.911C>A	p.Pro304His	p.P304H	ENST00000371380		304	cCt/cAt	0	1		UPI00001F93EE	0	NA	ENST00000260766		ENSG00000138193	17175		82	0.345		HGNC	p.P304H	rs760662146	PLCE1	6.06E-05	SNV			1				ENST00000371380	protein_coding	getma.org/?cm=var&var=hg19,10,95791714,C,A&fts=all		Superfamily_domains:0041591		P/H		A	neutral	1545/7992		getma.org/?cm=msa&ty=f&p=PLCE1_HUMAN&rb=1&re=371&var=P304H	deleterious_low_confidence(0.01)	B7ZM61_HUMAN				PLCE1,missense_variant,p.Pro304His,ENST00000371380,;PLCE1,missense_variant,p.Pro304His,ENST00000260766,NM_016341.3;							MODERATE	911/6909	P304H	PLCE1_HUMAN			Transcript		benign(0.264)	.	ENSP00000260766	8.28E-06	CCDS41552.1			1	
PCDHB8	0	LGGM	GRCh37	5	140558938	140558938	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	137	7	.	.	ENST00000239444.2:c.1323G>T	p.Leu441=	p.L441=	ENST00000239444	NM_019120.3	441	ctG/ctT	0	1	1	UPI000013CA80	0		ENST00000239444		ENSG00000120322	8693		144			HGNC	p.L441L		PCDHB8		SNV							ENST00000239444	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		L		T		1568/2711							YES	PCDHB8,synonymous_variant,p.=,ENST00000239444,NM_019120.3;PCDHB16,upstream_gene_variant,,ENST00000361016,NM_020957.1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.2;							LOW	1323/2406		PCDB8_HUMAN			Transcript			.	ENSP00000239444		CCDS4250.1			1	
ZNF512B	0	LGGM	GRCh37	20	62597697	62597697	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	7	.	.	ENST00000450537.1:c.831G>T	p.Thr277=	p.T277=	ENST00000450537		277	acG/acT	0	1		UPI000013A290	0		ENST00000217130		ENSG00000196700	29212		91			HGNC	p.T277T		ZNF512B		SNV							ENST00000217130	protein_coding			hmmpanther:PTHR22979,hmmpanther:PTHR22979:SF3,Low_complexity_(Seg):seg		T		A		876/5910								ZNF512B,synonymous_variant,p.=,ENST00000450537,;ZNF512B,synonymous_variant,p.=,ENST00000369888,NM_020713.2;ZNF512B,synonymous_variant,p.=,ENST00000217130,;							LOW	831/2679		Z512B_HUMAN			Transcript			.	ENSP00000217130		CCDS13548.1			1	
DIP2A	0	LGGM	GRCh37	21	47929264	47929264	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	121	7	.	.	ENST00000417564.2:c.879G>T	p.Val293=	p.V293=	ENST00000417564		293	gtG/gtT	0	1	1	UPI00001B2E47	0		ENST00000417564		ENSG00000160305	17217		128			HGNC	p.V293V		DIP2A		SNV							ENST00000435722	protein_coding			hmmpanther:PTHR22754,hmmpanther:PTHR22754:SF24,Low_complexity_(Seg):seg		V		T		900/6967				Q9NSX6_HUMAN,Q96NX2_HUMAN			YES	DIP2A,synonymous_variant,p.=,ENST00000318711,NM_001146116.1,NM_015151.3;DIP2A,synonymous_variant,p.=,ENST00000400274,;DIP2A,synonymous_variant,p.=,ENST00000417564,;DIP2A,synonymous_variant,p.=,ENST00000427143,NM_001146114.1;DIP2A,synonymous_variant,p.=,ENST00000457905,NM_206889.2;DIP2A,synonymous_variant,p.=,ENST00000435722,NM_206890.2,NM_206891.2;DIP2A,synonymous_variant,p.=,ENST00000466639,NM_001146115.1;DIP2A,non_coding_transcript_exon_variant,,ENST00000473752,;DIP2A,non_coding_transcript_exon_variant,,ENST00000494435,;							LOW	879/4716		DIP2A_HUMAN			Transcript			.	ENSP00000392066		CCDS46655.1			1	
MAATS1	0	LGGM	GRCh37	3	119434495	119434495	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	110	7	.	.	ENST00000273390.5:c.587G>T	p.Arg196Leu	p.R196L	ENST00000273390	NM_033364.3	196	cGg/cTg	0	1	1	UPI00001C1DFE	0	NA	ENST00000273390		ENSG00000183833	24010		117	2.86		HGNC	p.G88W		MAATS1		SNV							ENST00000498167	protein_coding	getma.org/?cm=var&var=hg19,3,119434495,G,T&fts=all		Pfam_domain:PF14738,hmmpanther:PTHR22455:SF10,hmmpanther:PTHR22455		R/L		T	medium	664/4433		getma.org/?cm=msa&ty=f&p=AAT1_HUMAN&rb=1&re=601&var=R196L	deleterious(0)				YES	MAATS1,missense_variant,p.Arg196Leu,ENST00000273390,NM_033364.3;MAATS1,missense_variant,p.Arg196Leu,ENST00000463700,;MAATS1,missense_variant,p.Gly118Trp,ENST00000475093,;MAATS1,missense_variant,p.Gly88Trp,ENST00000498167,;MAATS1,3_prime_UTR_variant,,ENST00000482573,;MAATS1,3_prime_UTR_variant,,ENST00000482927,;MAATS1,non_coding_transcript_exon_variant,,ENST00000483134,;MAATS1,non_coding_transcript_exon_variant,,ENST00000468630,;							MODERATE	587/2304	R196L	MAAT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000273390		CCDS2994.1			1	
MUT	0	LGGM	GRCh37	6	49416553	49416553	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	123	7	.	.	ENST00000274813.3:c.1420C>A	p.Arg474=	p.R474=	ENST00000274813	NM_000255.3	474	Cga/Aga	0	1	1	UPI000013DA28	0		ENST00000274813		ENSG00000146085	7526		130			HGNC	p.R474R		MUT		SNV			1				ENST00000274813	protein_coding			Gene3D:3.20.20.240,Pfam_domain:PF01642,hmmpanther:PTHR23408,hmmpanther:PTHR23408:SF1,Superfamily_domains:SSF51703,TIGRFAM_domain:TIGR00641		R		T		1548/3749				S4UML7_HUMAN,T1WHH0_HUMAN			YES	MUT,synonymous_variant,p.=,ENST00000274813,NM_000255.3;							LOW	1420/2253		MUTA_HUMAN			Transcript			.	ENSP00000274813		CCDS4924.1			1	
CMYA5	0	LGGM	GRCh37	5	79031986	79031986	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	119	7	.	.	ENST00000446378.2:c.7398C>A	p.Thr2466=	p.T2466=	ENST00000446378	NM_153610.3	2466	acC/acA	0	1	1	UPI00004F9478	0		ENST00000446378		ENSG00000164309	14305		126			HGNC	p.T2466T		CMYA5		SNV							ENST00000446378	protein_coding			hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7		T		A		7429/12847							YES	CMYA5,synonymous_variant,p.=,ENST00000446378,NM_153610.3;CMYA5,upstream_gene_variant,,ENST00000506603,;							LOW	7398/12210		CMYA5_HUMAN			Transcript			.	ENSP00000394770		CCDS47238.1			1	
USP16	0	LGGM	GRCh37	21	30415859	30415859	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	125	7	.	.	ENST00000334352.4:c.1295C>A	p.Pro432His	p.P432H	ENST00000334352	NM_001032410.1	432	cCt/cAt	0	1	1	UPI00001379FA	0	NA	ENST00000334352		ENSG00000156256	12614		132	1.645		HGNC	p.P432H		USP16		SNV							ENST00000334352	protein_coding	getma.org/?cm=var&var=hg19,21,30415859,C,A&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF420		P/H		A	low	1526/3004		getma.org/?cm=msa&ty=f&p=UBP16_HUMAN&rb=193&re=819&var=P432H	deleterious(0.01)	H9KVB6_HUMAN			YES	USP16,missense_variant,p.Pro432His,ENST00000334352,NM_001032410.1;USP16,missense_variant,p.Pro432His,ENST00000399976,NM_006447.2;USP16,missense_variant,p.Pro431His,ENST00000399975,NM_001001992.1;USP16,missense_variant,p.Pro61His,ENST00000535828,;USP16,non_coding_transcript_exon_variant,,ENST00000474835,;							MODERATE	1295/2472	P432H	UBP16_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000334808		CCDS13583.1			1	
OR5T1	0	LGGM	GRCh37	11	56043847	56043847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	126	7	.	.	ENST00000313033.2:c.733G>T	p.Gly245Trp	p.G245W	ENST00000313033	NM_001004745.1	245	Ggg/Tgg	0	1	1	UPI000004B22E	0	NA	ENST00000313033		ENSG00000181698	14821		133	3.97		HGNC	p.G245W		OR5T1		SNV							ENST00000313033	protein_coding	getma.org/?cm=var&var=hg19,11,56043847,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF33,Superfamily_domains:SSF81321		G/W		T	high	819/1118		getma.org/?cm=msa&ty=f&p=OR5T1_HUMAN&rb=151&re=295&var=G245W	deleterious(0)				YES	OR5T1,missense_variant,p.Gly245Trp,ENST00000313033,NM_001004745.1;							MODERATE	733/981	G245W	OR5T1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323612		CCDS31525.1			1	
PCDHA11	0	LGGM	GRCh37	5	140249077	140249077	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	123	7	.	.	ENST00000398640.2:c.389C>A	p.Pro130Gln	p.P130Q	ENST00000398640	NM_018902.3	130	cCg/cAg	0	1	1	UPI00001273D4	0	getma.org/pdb.php?prot=PCDAB_HUMAN&from=30&to=133&var=P130Q	ENST00000398640		ENSG00000249158	8665		130	1.84		HGNC	p.P130Q		PCDHA11		SNV							ENST00000398640	protein_coding	getma.org/?cm=var&var=hg19,5,140249077,C,A&fts=all		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/Q		A	low	389/5257		getma.org/?cm=msa&ty=f&p=PCDAB_HUMAN&rb=30&re=133&var=P130Q	deleterious_low_confidence(0.01)				YES	PCDHA11,missense_variant,p.Pro130Gln,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,;							MODERATE	389/2850	P130Q	PCDAB_HUMAN			Transcript		possibly_damaging(0.464)	.	ENSP00000381636		CCDS47284.1			1	
PEAK1	0	LGGM	GRCh37	15	77472465	77472465	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	119	7	.	.	ENST00000560626.2:c.1804G>T	p.Gly602Cys	p.G602C	ENST00000560626		602	Ggt/Tgt	0	1		UPI00002378D0	0	NA	ENST00000312493		ENSG00000173517	29431		126	1.04		HGNC	p.G602C		PEAK1		SNV							ENST00000312493	protein_coding	getma.org/?cm=var&var=hg19,15,77472465,C,A&fts=all		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5		G/C		A	low	2083/11547		getma.org/?cm=msa&ty=f&p=PEAK1_HUMAN&rb=101&re=1105&var=G602C	deleterious(0)	H3BUZ5_HUMAN,H3BUE6_HUMAN				PEAK1,missense_variant,p.Gly602Cys,ENST00000560626,;PEAK1,missense_variant,p.Gly602Cys,ENST00000312493,NM_024776.3;PEAK1,missense_variant,p.Gly602Cys,ENST00000558305,;PEAK1,missense_variant,p.Gly602Cys,ENST00000564328,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000560854,;							MODERATE	1804/5241	G602C	PEAK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000309230		CCDS42062.1			1	
PTPN13	0	LGGM	GRCh37	4	87696431	87696431	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	139	7	.	.	ENST00000436978.1:c.5631C>A	p.Pro1877=	p.P1877=	ENST00000436978	NM_080685.2	1877	ccC/ccA	0	1		UPI0000132973	0		ENST00000411767		ENSG00000163629	9646		146			HGNC	p.P1872P		PTPN13		SNV							ENST00000411767	protein_coding			PIRSF_domain:PIRSF000933,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,Superfamily_domains:SSF50156		P		A		5679/8119				D6R9X4_HUMAN				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,synonymous_variant,p.=,ENST00000316707,NM_080684.2;							LOW	5616/7458		PTN13_HUMAN			Transcript			.	ENSP00000407249		CCDS47094.1			1	
LONRF1	0	LGGM	GRCh37	8	12583257	12583257	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	68	7	.	.	ENST00000398246.3:c.2142C>A	p.Pro714=	p.P714=	ENST00000398246	NM_152271.3	714	ccC/ccA	0	1	1	UPI0000696489	0		ENST00000398246		ENSG00000154359	26302		75			HGNC	p.P357P		LONRF1		SNV							ENST00000533751	protein_coding			Pfam_domain:PF02190,hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF4,SMART_domains:SM00464,Superfamily_domains:SSF88697		P		T		2212/3594				E9PQH4_HUMAN			YES	LONRF1,synonymous_variant,p.=,ENST00000398246,NM_152271.3;LONRF1,synonymous_variant,p.=,ENST00000533751,;LONRF1,synonymous_variant,p.=,ENST00000524526,;LONRF1,synonymous_variant,p.=,ENST00000525024,;MIR3926-2,downstream_gene_variant,,ENST00000578598,;LONRF1,3_prime_UTR_variant,,ENST00000526680,;LONRF1,non_coding_transcript_exon_variant,,ENST00000527055,;LONRF1,downstream_gene_variant,,ENST00000526610,;							LOW	2142/2322		LONF1_HUMAN			Transcript			.	ENSP00000381298		CCDS5987.2			1	
IQGAP1	0	LGGM	GRCh37	15	91019907	91019907	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	121	7	.	.	ENST00000268182.5:c.2797C>A	p.His933Asn	p.H933N	ENST00000268182	NM_003870.3	933	Cac/Aac	0	1	1	UPI000012D863	0	NA	ENST00000268182		ENSG00000140575	6110		128	2.645		HGNC	p.H361N		IQGAP1		SNV							ENST00000560738	protein_coding	getma.org/?cm=var&var=hg19,15,91019907,C,A&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF15		H/N		A	medium	2921/7233		getma.org/?cm=msa&ty=f&p=IQGA1_HUMAN&rb=857&re=1024&var=H933N	deleterious(0)	H0YKA5_HUMAN			YES	IQGAP1,missense_variant,p.His933Asn,ENST00000268182,NM_003870.3;IQGAP1,missense_variant,p.His361Asn,ENST00000560738,;IQGAP1,downstream_gene_variant,,ENST00000560020,;IQGAP1,non_coding_transcript_exon_variant,,ENST00000560733,;IQGAP1,downstream_gene_variant,,ENST00000558003,;IQGAP1,downstream_gene_variant,,ENST00000560373,;							MODERATE	2797/4974	H933N	IQGA1_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000268182		CCDS10362.1			1	
TTN	0	LGGM	GRCh37	2	179547465	179547465	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	183	7	.	.	ENST00000589042.1:c.33053G>T	p.Arg11018Leu	p.R11018L	ENST00000589042	NM_001267550.1	11018	cGg/cTg	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		190	0.345		HGNC	p.R10701L		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179547465,C,A&fts=all		hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Low_complexity_(Seg):seg		R/L		A	neutral	32327/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=10643&re=10761&var=R10701L		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg11018Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg10701Leu,ENST00000591111,;TTN,missense_variant,p.Arg9774Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg632Leu,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,;							MODERATE	32102/103053	R10701L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PCDHGA3	0	LGGM	GRCh37	5	140725212	140725212	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	7	.	.	ENST00000253812.6:c.1612G>T	p.Gly538Trp	p.G538W	ENST00000253812	NM_018916.3	538	Ggg/Tgg	0	1	1	UPI0000161C1A	0	getma.org/pdb.php?prot=PCDG3_HUMAN&from=457&to=553&var=G538W	ENST00000253812		ENSG00000254245	8701		103	4.72		HGNC	p.G538W		PCDHGA3		SNV							ENST00000253812	protein_coding	getma.org/?cm=var&var=hg19,5,140725212,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/W		T	high	1612/4605		getma.org/?cm=msa&ty=f&p=PCDG3_HUMAN&rb=457&re=553&var=G538W	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA3,missense_variant,p.Gly538Trp,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,upstream_gene_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA2,downstream_gene_variant,,ENST00000528330,;							MODERATE	1612/2799	G538W	PCDG3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000253812		CCDS47290.1			1	
COL21A1	0	LGGM	GRCh37	6	56044587	56044587	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	129	7	.	.	ENST00000244728.5:c.429G>T	p.Thr143=	p.T143=	ENST00000244728	NM_030820.3	143	acG/acT	0	1	1	UPI0000071DFE	0		ENST00000244728		ENSG00000124749	17025		136			HGNC	p.T143T		COL21A1		SNV							ENST00000535941	protein_coding			Prints_domain:PR00453,Superfamily_domains:SSF53300,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234		T		A		827/4339				A6PVD9_HUMAN			YES	COL21A1,synonymous_variant,p.=,ENST00000244728,NM_030820.3;COL21A1,synonymous_variant,p.=,ENST00000535941,;COL21A1,synonymous_variant,p.=,ENST00000370819,;COL21A1,downstream_gene_variant,,ENST00000370817,;							LOW	429/2874		COLA1_HUMAN			Transcript			.	ENSP00000244728		CCDS55025.1			1	
KDM5A	0	LGGM	GRCh37	12	431682	431682	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	105	7	.	.	ENST00000399788.2:c.2327C>A	p.Pro776Gln	p.P776Q	ENST00000399788	NM_001042603.1	776	cCa/cAa	0	1	1	UPI0000DB2E73	0	NA	ENST00000399788		ENSG00000073614	9886		112	2.52		HGNC	p.P776Q		KDM5A		SNV							ENST00000382815	protein_coding	getma.org/?cm=var&var=hg19,12,431682,G,T&fts=all		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Pfam_domain:PF08429		P/Q		T	medium	2690/10763		getma.org/?cm=msa&ty=f&p=KDM5A_HUMAN&rb=740&re=1072&var=P776Q	deleterious(0)				YES	KDM5A,missense_variant,p.Pro776Gln,ENST00000399788,NM_001042603.1;KDM5A,missense_variant,p.Pro776Gln,ENST00000382815,;KDM5A,missense_variant,p.Pro395Gln,ENST00000544760,;KDM5A,non_coding_transcript_exon_variant,,ENST00000541335,;KDM5A,downstream_gene_variant,,ENST00000540168,;							MODERATE	2327/5073	P776Q	KDM5A_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000382688		CCDS41736.1			1	
DNAH12	0	LGGM	GRCh37	3	57368493	57368493	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	71	7	.	.	ENST00000344804.4:c.273G>T	p.Lys91Asn	p.K91N	ENST00000344804		91	aaG/aaT	0	1	1	UPI00017AA3A8	0	getma.org/pdb.php?prot=DYH12_HUMAN&from=2377&to=3089&var=K2458N	ENST00000351747		ENSG00000174844	2943		78	3.245		HGNC	p.K149N		DNAH12		SNV							ENST00000466540	protein_coding	getma.org/?cm=var&var=hg19,3,57368493,C,A&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF250		K/N		A	medium	7555/9542		getma.org/?cm=msa&ty=f&p=DYH12_HUMAN&rb=2377&re=3089&var=K2458N	deleterious(0)	O15436_HUMAN				DNAH12,missense_variant,p.Lys2458Asn,ENST00000351747,NM_178504.4;DNAH12,missense_variant,p.Lys149Asn,ENST00000462199,;DNAH12,missense_variant,p.Lys91Asn,ENST00000344804,;DNAH12,missense_variant,p.Lys149Asn,ENST00000466540,;							MODERATE	7374/9279	K2458N	DYH12_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000295937					1	
ATXN7	0	LGGM	GRCh37	3	63973767	63973767	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	105	7	.	.	ENST00000398590.3:c.1128G>T	p.Gln376His	p.Q376H	ENST00000398590	NM_001177387.1	376	caG/caT	0	1		UPI0000126640	0	getma.org/pdb.php?prot=ATX7_HUMAN&from=318&to=397&var=Q376H	ENST00000295900		ENSG00000163635	10560		112	1.585		HGNC	p.Q376H		ATXN7		SNV			1				ENST00000295900	protein_coding	getma.org/?cm=var&var=hg19,3,63973767,G,T&fts=all		Pfam_domain:PF08313,PROSITE_profiles:PS51505,hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF2		Q/H		T	low	1678/7224		getma.org/?cm=msa&ty=f&p=ATX7_HUMAN&rb=318&re=397&var=Q376H	tolerated(0.14)	Q9UPD8_HUMAN				ATXN7,missense_variant,p.Gln376His,ENST00000398590,NM_001177387.1;ATXN7,missense_variant,p.Gln376His,ENST00000295900,NM_000333.3;ATXN7,missense_variant,p.Gln376His,ENST00000538065,;ATXN7,missense_variant,p.Gln376His,ENST00000487717,;ATXN7,missense_variant,p.Gln231His,ENST00000484332,NM_001128149.2;ATXN7,non_coding_transcript_exon_variant,,ENST00000474112,;ATXN7,non_coding_transcript_exon_variant,,ENST00000466529,;ATXN7,non_coding_transcript_exon_variant,,ENST00000472569,;ATXN7,upstream_gene_variant,,ENST00000477516,;ATXN7,upstream_gene_variant,,ENST00000484668,;							MODERATE	1128/2679	Q376H	ATX7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000295900		CCDS43102.1			1	
SMG1	0	LGGM	GRCh37	16	18866102	18866102	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	116	7	.	.	ENST00000446231.2:c.4359G>T	p.Leu1453=	p.L1453=	ENST00000446231		1453	ctG/ctT	0	1	1	UPI00004F8E22	0		ENST00000446231		ENSG00000157106	30045		123			HGNC	p.L1453L		SMG1		SNV							ENST00000446231	protein_coding			PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		L		A		4772/16115				H3BPS6_HUMAN			YES	SMG1,synonymous_variant,p.=,ENST00000446231,;SMG1,synonymous_variant,p.=,ENST00000389467,NM_015092.4;SMG1,synonymous_variant,p.=,ENST00000565324,;SMG1,downstream_gene_variant,,ENST00000563235,;SMG1,downstream_gene_variant,,ENST00000569764,;SMG1,upstream_gene_variant,,ENST00000563448,;							LOW	4359/10986		SMG1_HUMAN			Transcript			.	ENSP00000402515		CCDS45430.1			1	
CD44	0	LGGM	GRCh37	11	35227743	35227743	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	98	7	.	.	ENST00000428726.2:c.1367C>A	p.Pro456Gln	p.P456Q	ENST00000428726	NM_000610.3	456	cCa/cAa	0	1	1	UPI000013D3FE	0	NA	ENST00000428726		ENSG00000026508	1681		105	2.24		HGNC	p.P413Q		CD44		SNV			1				ENST00000415148	protein_coding	getma.org/?cm=var&var=hg19,11,35227743,C,A&fts=all		hmmpanther:PTHR10225,hmmpanther:PTHR10225:SF6		P/Q		A	medium	1490/3046		getma.org/?cm=msa&ty=f&p=CD44_HUMAN&rb=320&re=519&var=P456Q	deleterious(0)	E9PKC6_HUMAN,C1PHE6_HUMAN,C1PHC4_HUMAN,C1PHC3_HUMAN,C0STK4_HUMAN,B4XHE2_HUMAN			YES	CD44,missense_variant,p.Pro456Gln,ENST00000428726,NM_000610.3;CD44,missense_variant,p.Pro457Gln,ENST00000433354,;CD44,missense_variant,p.Pro413Gln,ENST00000449691,;CD44,missense_variant,p.Pro413Gln,ENST00000415148,NM_001001389.1;CD44,missense_variant,p.Pro456Gln,ENST00000437706,;CD44,missense_variant,p.Pro168Gln,ENST00000531110,;CD44,missense_variant,p.Pro230Gln,ENST00000525211,;CD44,missense_variant,p.Pro109Gln,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,;							MODERATE	1367/2229	P456Q	CD44_HUMAN			Transcript		benign(0.391)	.	ENSP00000398632		CCDS7897.1			1	
SMCHD1	0	LGGM	GRCh37	18	2732309	2732309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	134	7	.	.	ENST00000320876.6:c.3095C>A	p.Pro1032His	p.P1032H	ENST00000320876	NM_015295.2	1032	cCc/cAc	0	1	1	UPI00001D7AAD	0	NA	ENST00000320876		ENSG00000101596	29090		141	1.955		HGNC	p.P1032H		SMCHD1		SNV			1				ENST00000320876	protein_coding	getma.org/?cm=var&var=hg19,18,2732309,C,A&fts=all		hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640		P/H		A	medium	3433/8821		getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=900&re=1099&var=P1032H	deleterious(0)				YES	SMCHD1,missense_variant,p.Pro1032His,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Pro1032His,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,downstream_gene_variant,,ENST00000609587,;SMCHD1,missense_variant,p.Pro503His,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000581631,;							MODERATE	3095/6018	P1032H	SMHD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000326603		CCDS45822.1			1	
ADCY2	0	LGGM	GRCh37	5	7766918	7766918	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	130	7	.	.	ENST00000338316.4:c.2213C>A	p.Pro738Gln	p.P738Q	ENST00000338316	NM_020546.2	738	cCg/cAg	0	1	1	UPI000066D9F2	0	NA	ENST00000338316		ENSG00000078295	233		137	2.075		HGNC	p.P738Q		ADCY2		SNV							ENST00000338316	protein_coding	getma.org/?cm=var&var=hg19,5,7766918,C,A&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix		P/Q		A	medium	2302/6575		getma.org/?cm=msa&ty=f&p=ADCY2_HUMAN&rb=601&re=800&var=P738Q	tolerated(0.07)	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN			YES	ADCY2,missense_variant,p.Pro738Gln,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Pro558Gln,ENST00000537121,;							MODERATE	2213/3276	P738Q	ADCY2_HUMAN			Transcript		benign(0.027)	.	ENSP00000342952		CCDS3872.2			1	
TMCC1	0	LGGM	GRCh37	3	129547164	129547164	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	90	7	.	.	ENST00000393238.3:c.58C>A	p.Gln20Lys	p.Q20K	ENST00000393238	NM_001017395.3	20	Caa/Aaa	0	1	1	UPI0000197B80	0	NA	ENST00000393238		ENSG00000172765	29116		97	0.69		HGNC	p.Q20K		TMCC1		SNV							ENST00000393238	protein_coding	getma.org/?cm=var&var=hg19,3,129547164,G,T&fts=all		hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF11		Q/K		T	neutral	399/5992		getma.org/?cm=msa&ty=f&p=TMCC1_HUMAN&rb=1&re=200&var=Q20K	tolerated_low_confidence(0.28)	Q8N4H2_HUMAN,Q6N039_HUMAN,E9PC87_HUMAN,D6RBT7_HUMAN			YES	TMCC1,missense_variant,p.Gln20Lys,ENST00000393238,NM_001017395.3;TMCC1,intron_variant,,ENST00000426664,NM_001128224.2;TMCC1,intron_variant,,ENST00000505616,;TMCC1,intron_variant,,ENST00000513411,;TMCC1,downstream_gene_variant,,ENST00000512902,;TMCC1,intron_variant,,ENST00000505924,;TMCC1,downstream_gene_variant,,ENST00000508869,;							MODERATE	58/1962	Q20K	TMCC1_HUMAN			Transcript		benign(0.057)	.	ENSP00000376930		CCDS33855.1			1	
PRDX6	0	LGGM	GRCh37	1	173455479	173455479	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	135	7	.	.	ENST00000340385.5:c.485G>T	p.Arg162Met	p.R162M	ENST00000340385	NM_004905.2	162	aGg/aTg	0	1	1	UPI0000001C4B	0	getma.org/pdb.php?prot=PRDX6_HUMAN&from=5&to=169&var=R162M	ENST00000340385		ENSG00000117592	16753		142	4.92		HGNC	p.R162M		PRDX6		SNV							ENST00000340385	protein_coding	getma.org/?cm=var&var=hg19,1,173455479,G,T&fts=all		Gene3D:3.40.30.10,PIRSF_domain:PIRSF000239,PROSITE_profiles:PS51352,hmmpanther:PTHR10681,hmmpanther:PTHR10681:SF77,Superfamily_domains:SSF52833		R/M		T	high	617/1751		getma.org/?cm=msa&ty=f&p=PRDX6_HUMAN&rb=5&re=169&var=R162M	deleterious(0)				YES	PRDX6,missense_variant,p.Arg162Met,ENST00000340385,NM_004905.2;PRDX6,non_coding_transcript_exon_variant,,ENST00000470017,;PRDX6,downstream_gene_variant,,ENST00000460950,;							MODERATE	485/675	R162M	PRDX6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000342026		CCDS1307.1			1	
SCAF11	0	LGGM	GRCh37	12	46316732	46316732	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	119	7	.	.	ENST00000369367.3:c.4112C>A	p.Ser1371Ter	p.S1371*	ENST00000369367	NM_004719.2	1371	tCg/tAg	0	1	1	UPI0000D481F2	0	NA	ENST00000369367		ENSG00000139218	10784		126	0		HGNC	p.S1371X	COSM548402	SCAF11		SNV						1	ENST00000369367	protein_coding	getma.org/?cm=var&var=hg19,12,46316732,G,T&fts=all		hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF3,Low_complexity_(Seg):seg		S/*		T	NA	4346/5265		NA		F8VXG7_HUMAN			YES	SCAF11,stop_gained,p.Ser1056Ter,ENST00000465950,;SCAF11,stop_gained,p.Ser1371Ter,ENST00000369367,NM_004719.2;SCAF11,stop_gained,p.Ser1371Ter,ENST00000419565,;SCAF11,stop_gained,p.Ser1179Ter,ENST00000549162,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550629,;SCAF11,intron_variant,,ENST00000547654,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550893,;SCAF11,downstream_gene_variant,,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000547950,;					1		HIGH	4112/4392	S1371*	SCAFB_HUMAN			Transcript			.	ENSP00000358374		CCDS8748.2			1	
PRPF8	0	LGGM	GRCh37	17	1565398	1565398	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	66	7	.	.	ENST00000572621.1:c.3824G>T	p.Arg1275Leu	p.R1275L	ENST00000572621		1275	cGg/cTg	0	1		UPI000006F2DD	0	NA	ENST00000304992		ENSG00000174231	17340		73	3.445		HGNC	p.R1275L		PRPF8		SNV			1				ENST00000304992	protein_coding	getma.org/?cm=var&var=hg19,17,1565398,C,A&fts=all		hmmpanther:PTHR11140,hmmpanther:PTHR11140:SF0,Pfam_domain:PF10597		R/L		A	medium	3938/7295		getma.org/?cm=msa&ty=f&p=PRP8_HUMAN&rb=1208&re=1343&var=R1275L	deleterious(0)					PRPF8,missense_variant,p.Arg1275Leu,ENST00000572621,;PRPF8,missense_variant,p.Arg1275Leu,ENST00000304992,NM_006445.3;PRPF8,upstream_gene_variant,,ENST00000573725,;PRPF8,upstream_gene_variant,,ENST00000573681,;PRPF8,upstream_gene_variant,,ENST00000572445,;							MODERATE	3824/7008	R1275L	PRP8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304350		CCDS11010.1			1	
ANKRD18B	0	LGGM	GRCh37	9	33555817	33555817	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	102	7	.	.	ENST00000290943.6:c.2143G>T	p.Gly715Ter	p.G715*	ENST00000290943	NM_001244752.1	715	Gga/Tga	0	1	1	UPI0000EE047B	0		ENST00000290943		ENSG00000230453	23644		109			HGNC	p.G715X		ANKRD18B		SNV							ENST00000290943	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF22,hmmpanther:PTHR24147		G/*		T		2239/3773							YES	ANKRD18B,stop_gained,p.Gly715Ter,ENST00000290943,NM_001244752.1;ANKRD18B,stop_gained,p.Gly96Ter,ENST00000357927,;							HIGH	2143/3036		AN18B_HUMAN			Transcript			.	ENSP00000290943					1	
NUP107	0	LGGM	GRCh37	12	69084484	69084484	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	114	7	.	.	ENST00000229179.4:c.261C>A	p.Pro87=	p.P87=	ENST00000229179	NM_020401.2	87	ccC/ccA	0	1	1	UPI000012FC0B	0		ENST00000229179		ENSG00000111581	29914		121			HGNC	p.P87P		NUP107		SNV							ENST00000535718	protein_coding			hmmpanther:PTHR13003		P		A		593/3653				F5GY77_HUMAN			YES	NUP107,synonymous_variant,p.=,ENST00000229179,NM_020401.2;NUP107,synonymous_variant,p.=,ENST00000539906,;NUP107,5_prime_UTR_variant,,ENST00000378905,;NUP107,5_prime_UTR_variant,,ENST00000538549,;RP11-637A17.2,upstream_gene_variant,,ENST00000500695,;RP11-637A17.2,upstream_gene_variant,,ENST00000502102,;RP11-637A17.2,upstream_gene_variant,,ENST00000433116,;NUP107,non_coding_transcript_exon_variant,,ENST00000537598,;NUP107,non_coding_transcript_exon_variant,,ENST00000535333,;NUP107,synonymous_variant,p.=,ENST00000535718,;NUP107,non_coding_transcript_exon_variant,,ENST00000545140,;NUP107,non_coding_transcript_exon_variant,,ENST00000539373,;NUP107,downstream_gene_variant,,ENST00000540453,;RPL7P42,downstream_gene_variant,,ENST00000481005,;							LOW	261/2778		NU107_HUMAN			Transcript			.	ENSP00000229179		CCDS8985.1			1	
CARD8	0	LGGM	GRCh37	19	48737703	48737703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	143	7	.	.	ENST00000391898.3:c.307C>A	p.Arg103Ser	p.R103S	ENST00000391898	NM_001184900.1	103	Cgt/Agt	0	1	1	UPI000022A913	0	NA	ENST00000391898		ENSG00000105483	17057		150	0		HGNC	p.R53S		CARD8		SNV							ENST00000520153	protein_coding	getma.org/?cm=var&var=hg19,19,48737703,G,T&fts=all				R/S		T	neutral	350/5263		getma.org/?cm=msa&ty=f&p=E5RFI5_HUMAN&rb=1&re=114&var=R103S	tolerated(0.4)	E5RGG3_HUMAN,E5RFV9_HUMAN			YES	CARD8,missense_variant,p.Arg103Ser,ENST00000391898,NM_001184900.1;CARD8,missense_variant,p.Arg53Ser,ENST00000447740,NM_001184901.1;CARD8,missense_variant,p.Arg103Ser,ENST00000520753,NM_001184902.1;CARD8,missense_variant,p.Arg53Ser,ENST00000520153,NM_014959.3;CARD8,missense_variant,p.Arg103Ser,ENST00000519940,;CARD8,missense_variant,p.Arg103Ser,ENST00000520015,NM_001184903.1;CARD8,missense_variant,p.Arg53Ser,ENST00000521613,;CARD8,synonymous_variant,p.=,ENST00000359009,;CARD8,5_prime_UTR_variant,,ENST00000357778,;ZNF114,intron_variant,,ENST00000597695,;CARD8,downstream_gene_variant,,ENST00000522431,;CARD8,downstream_gene_variant,,ENST00000520007,;CARD8,downstream_gene_variant,,ENST00000521437,;CARD8,downstream_gene_variant,,ENST00000522889,;CARD8,downstream_gene_variant,,ENST00000519332,NM_001184904.1;CARD8,non_coding_transcript_exon_variant,,ENST00000523750,;CARD8,non_coding_transcript_exon_variant,,ENST00000517778,;CARD8,non_coding_transcript_exon_variant,,ENST00000522068,;CARD8,missense_variant,p.Arg53Ser,ENST00000518622,;CARD8,missense_variant,p.Arg53Ser,ENST00000518979,;CARD8,missense_variant,p.Arg103Ser,ENST00000522773,;CARD8,missense_variant,p.Arg103Ser,ENST00000519646,;CARD8,missense_variant,p.Arg53Ser,ENST00000517510,;CARD8,missense_variant,p.Arg103Ser,ENST00000521415,;CARD8,missense_variant,p.Arg53Ser,ENST00000519302,;CARD8,non_coding_transcript_exon_variant,,ENST00000522051,;CARD8,non_coding_transcript_exon_variant,,ENST00000518596,;CARD8,non_coding_transcript_exon_variant,,ENST00000521092,;CARD8,upstream_gene_variant,,ENST00000377461,;CARD8,upstream_gene_variant,,ENST00000523579,;CARD8,upstream_gene_variant,,ENST00000523668,;							MODERATE	307/1614	R103S	CARD8_HUMAN			Transcript		benign(0.008)	.	ENSP00000375767		CCDS54289.1			1	
RICTOR	0	LGGM	GRCh37	5	38946602	38946602	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	7	.	.	ENST00000357387.3:c.4367G>T	p.Arg1456Leu	p.R1456L	ENST00000357387	NM_152756.3	1456	cGa/cTa	0	1	1	UPI00003529F3	0	NA	ENST00000357387		ENSG00000164327	28611		103	1.59		HGNC	p.R1456L		RICTOR		SNV							ENST00000357387	protein_coding	getma.org/?cm=var&var=hg19,5,38946602,C,A&fts=all		hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298		R/L		A	low	4398/9543		getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=R1456L	tolerated(0.1)				YES	RICTOR,missense_variant,p.Arg1456Leu,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.Arg1480Leu,ENST00000296782,NM_001285439.1;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;OSMR,downstream_gene_variant,,ENST00000509237,;RICTOR,upstream_gene_variant,,ENST00000505927,;OSMR,downstream_gene_variant,,ENST00000508882,;							MODERATE	4367/5127	R1456L	RICTR_HUMAN			Transcript		benign(0.363)	.	ENSP00000349959		CCDS34148.1			1	
TNRC6B	0	LGGM	GRCh37	22	40681652	40681652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	151	7	.	.	ENST00000454349.2:c.3586G>T	p.Gly1196Cys	p.G1196C	ENST00000454349	NM_001162501.1	1196	Ggt/Tgt	0	1	1	UPI00017A6F19	0	NA	ENST00000454349		ENSG00000100354	29190		158	2.08		HGNC	p.G392C	rs767892512	TNRC6B		SNV							ENST00000402203	protein_coding	getma.org/?cm=var&var=hg19,22,40681652,G,T&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		G/C		T	medium	3797/18279	1.50E-05	getma.org/?cm=msa&ty=f&p=TNR6B_HUMAN&rb=1062&re=1261&var=G1196C	deleterious(0)				YES	TNRC6B,missense_variant,p.Gly1196Cys,ENST00000454349,NM_001162501.1;TNRC6B,missense_variant,p.Gly1086Cys,ENST00000335727,NM_015088.2;TNRC6B,missense_variant,p.Gly392Cys,ENST00000301923,NM_001024843.1;TNRC6B,missense_variant,p.Gly882Cys,ENST00000446273,;TNRC6B,missense_variant,p.Gly392Cys,ENST00000402203,;TNRC6B,non_coding_transcript_exon_variant,,ENST00000497559,;							MODERATE	3586/5502	G1196C	TNR6B_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000401946	8.27E-06	CCDS54533.1			1	
DST	0	LGGM	GRCh37	6	56382353	56382353	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	134	7	.	.	ENST00000244364.6:c.10326G>T	p.Leu3442=	p.L3442=	ENST00000244364	NM_015548.4	3442	ctG/ctT	0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		141			HGNC	p.L6034L	COSM347491,COSM347492	DST		SNV			1			1,1	ENST00000370754	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		L		A		10534/16742				Q86T18_HUMAN			YES	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,non_coding_transcript_exon_variant,,ENST00000340834,;					1,1		LOW	10326/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
SYNJ1	0	LGGM	GRCh37	21	34022539	34022539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	132	7	.	.	ENST00000433931.2:c.3109C>A	p.Leu1037Met	p.L1037M	ENST00000433931	NM_003895.3	1037	Ctg/Atg	0	1	1	UPI0001A47572	0	NA	ENST00000433931		ENSG00000159082	11503		139	2.175		HGNC	p.L993M		SYNJ1		SNV			1				ENST00000382491	protein_coding	getma.org/?cm=var&var=hg19,21,34022539,G,T&fts=all		Pfam_domain:PF08952,hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200		L/M		T	medium	3117/4852		getma.org/?cm=msa&ty=f&p=SYNJ1_HUMAN&rb=867&re=1009&var=L998M	deleterious(0)	J3KQV8_HUMAN,C9J1Z6_HUMAN			YES	SYNJ1,missense_variant,p.Leu1037Met,ENST00000382499,NM_203446.2;SYNJ1,missense_variant,p.Leu998Met,ENST00000357345,NM_001160302.1;SYNJ1,missense_variant,p.Leu993Met,ENST00000382491,NM_001160306.1;SYNJ1,missense_variant,p.Leu1037Met,ENST00000433931,NM_003895.3;SYNJ1,missense_variant,p.Leu998Met,ENST00000322229,;SYNJ1,upstream_gene_variant,,ENST00000438952,;SYNJ1,upstream_gene_variant,,ENST00000416083,;SYNJ1,non_coding_transcript_exon_variant,,ENST00000467445,;							MODERATE	3109/4839	L998M				Transcript		probably_damaging(1)	.	ENSP00000409667		CCDS33539.2			1	
PIKFYVE	0	LGGM	GRCh37	2	209190178	209190178	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	42	7	.	.	ENST00000264380.4:c.2643C>A	p.Pro881=	p.P881=	ENST00000264380	NM_015040.3	881	ccC/ccA	0	1	1	UPI0000366FD6	0		ENST00000264380		ENSG00000115020	23785		49			HGNC	p.P825P		PIKFYVE		SNV			1				ENST00000452564	protein_coding			hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353		P		A		2801/9901							YES	PIKFYVE,synonymous_variant,p.=,ENST00000264380,NM_015040.3;PIKFYVE,synonymous_variant,p.=,ENST00000452564,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;							LOW	2643/6297		FYV1_HUMAN			Transcript			.	ENSP00000264380		CCDS2382.1			1	
KDM1B	0	LGGM	GRCh37	6	18212777	18212777	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	109	7	.	.	ENST00000297792.5:c.1229C>A	p.Pro410Gln	p.P410Q	ENST00000297792		410	cCg/cAg	0	1	1	UPI000023739E	0	getma.org/pdb.php?prot=KDM1B_HUMAN&from=392&to=820&var=P642Q	ENST00000297792		ENSG00000165097	21577		116	2.15		HGNC	p.P643Q		KDM1B		SNV							ENST00000388870	protein_coding	getma.org/?cm=var&var=hg19,6,18212777,C,A&fts=all		hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742,Gene3D:3.90.660.10,Pfam_domain:PF01593,Superfamily_domains:SSF51905		P/Q		A	medium	1406/3811		getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=392&re=820&var=P642Q	deleterious(0.04)	Q08EI0_HUMAN			YES	KDM1B,missense_variant,p.Pro643Gln,ENST00000388870,;KDM1B,missense_variant,p.Pro411Gln,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Pro410Gln,ENST00000297792,;KDM1B,missense_variant,p.Pro460Gln,ENST00000449850,;KDM1B,intron_variant,,ENST00000546309,;							MODERATE	1229/1773	P642Q	KDM1B_HUMAN			Transcript		unknown(0)	.	ENSP00000297792		CCDS34343.1			1	
FAT1	0	LGGM	GRCh37	4	187540064	187540064	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	136	7	.	.	ENST00000441802.2:c.7676C>A	p.Pro2559Gln	p.P2559Q	ENST00000441802	NM_005245.3	2559	cCg/cAg	0	1	1	UPI000051946B	0	getma.org/pdb.php?prot=FAT1_HUMAN&from=2497&to=2587&var=P2559Q	ENST00000441802		ENSG00000083857	3595		143	1.685		HGNC	p.P2559Q		FAT1		SNV							ENST00000441802	protein_coding	getma.org/?cm=var&var=hg19,4,187540064,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/Q		T	low	7886/14786		getma.org/?cm=msa&ty=f&p=FAT1_HUMAN&rb=2497&re=2587&var=P2559Q		D6RCE4_HUMAN			YES	FAT1,missense_variant,p.Pro2559Gln,ENST00000441802,NM_005245.3;							MODERATE	7676/13767	P2559Q	FAT1_HUMAN			Transcript		benign(0.064)	.	ENSP00000406229		CCDS47177.1			1	
NOX1	0	LGGM	GRCh37	X	100117215	100117215	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	132	7	.	.	ENST00000372966.3:c.749G>T	p.Trp250Leu	p.W250L	ENST00000372966	NM_001271815.1	250	tGg/tTg	0	1	1	UPI00001303C1	0	NA	ENST00000372966		ENSG00000007952	7889		139	3.02		HGNC	p.W250L		NOX1		SNV							ENST00000217885	protein_coding	getma.org/?cm=var&var=hg19,X,100117215,C,A&fts=all		hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972		W/L		A	medium	955/2529		getma.org/?cm=msa&ty=f&p=NOX1_HUMAN&rb=54&re=283&var=W250L	deleterious(0.02)				YES	NOX1,missense_variant,p.Trp250Leu,ENST00000372966,NM_001271815.1,NM_013955.2,NM_007052.4;NOX1,missense_variant,p.Trp250Leu,ENST00000217885,;NOX1,missense_variant,p.Trp213Leu,ENST00000372960,;NOX1,intron_variant,,ENST00000372964,;							MODERATE	749/1695	W250L	NOX1_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000362057		CCDS14474.1			1	
CCDC171	0	LGGM	GRCh37	9	15724895	15724895	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	116	7	.	.	ENST00000380701.3:c.1613G>T	p.Trp538Leu	p.W538L	ENST00000380701	NM_173550.2	538	tGg/tTg	0	1	1	UPI000021C44B	0	NA	ENST00000380701		ENSG00000164989	29828		123	0.895		HGNC	p.W538L		CCDC171		SNV							ENST00000297641	protein_coding	getma.org/?cm=var&var=hg19,9,15724895,G,T&fts=all		Coiled-coils_(Ncoils):Coil		W/L		T	low	1941/6512		getma.org/?cm=msa&ty=f&p=CC171_HUMAN&rb=401&re=600&var=W538L	deleterious(0.02)	Q8NCV3_HUMAN			YES	CCDC171,missense_variant,p.Trp538Leu,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Trp538Leu,ENST00000297641,;							MODERATE	1613/3981	W538L	CC171_HUMAN			Transcript		possibly_damaging(0.732)	.	ENSP00000370077		CCDS6481.1			1	
NEK3	0	LGGM	GRCh37	13	52710338	52710338	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	143	7	.	.	ENST00000400357.2:c.1037G>T	p.Trp346Leu	p.W346L	ENST00000400357		346	tGg/tTg	0	1	1	UPI0000E59B02	0	NA	ENST00000400357		ENSG00000136098	7746		150	2.295		HGNC	p.W340L		NEK3		SNV							ENST00000547422	protein_coding	getma.org/?cm=var&var=hg19,13,52710338,C,A&fts=all		hmmpanther:PTHR24362:SF7,hmmpanther:PTHR24362		W/L		A	medium	2331/3255		getma.org/?cm=msa&ty=f&p=NEK3_HUMAN&rb=273&re=494&var=W363L	deleterious(0.01)	F8VV00_HUMAN			YES	NEK3,missense_variant,p.Trp346Leu,ENST00000400357,;NEK3,missense_variant,p.Trp367Leu,ENST00000452082,;NEK3,missense_variant,p.Trp363Leu,ENST00000339406,NM_001146099.1,NM_002498.2;NEK3,missense_variant,p.Trp363Leu,ENST00000378101,NM_152720.2;NEK3,3_prime_UTR_variant,,ENST00000548127,;NEK3,3_prime_UTR_variant,,ENST00000258597,;NEK3,3_prime_UTR_variant,,ENST00000547820,;NEK3,upstream_gene_variant,,ENST00000550331,;							MODERATE	1037/1470	W363L	NEK3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383210		CCDS53871.1			1	
ANAPC10	0	LGGM	GRCh37	4	145985725	145985725	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	107	7	.	.	ENST00000507656.1:c.326G>T	p.Arg109Leu	p.R109L	ENST00000507656	NM_001256706.1	109	cGg/cTg	0	1		UPI00000467AB	0	getma.org/pdb.php?prot=APC10_HUMAN&from=2&to=184&var=R109L	ENST00000309439		ENSG00000164162	24077		114	0.805		HGNC	p.R109L		ANAPC10		SNV							ENST00000507656	protein_coding	getma.org/?cm=var&var=hg19,4,145985725,C,A&fts=all		PROSITE_profiles:PS51284,hmmpanther:PTHR12936,Gene3D:2.60.120.260,Pfam_domain:PF03256,PIRSF_domain:PIRSF028841,Superfamily_domains:SSF49785		R/L		A	low	421/868		getma.org/?cm=msa&ty=f&p=APC10_HUMAN&rb=2&re=184&var=R109L	tolerated(0.18)	Q4W5I2_HUMAN,D6RB36_HUMAN,D6RA92_HUMAN,D6R9Q5_HUMAN				ANAPC10,missense_variant,p.Arg109Leu,ENST00000507656,NM_001256706.1;ANAPC10,missense_variant,p.Arg109Leu,ENST00000451299,NM_001256707.1;ANAPC10,missense_variant,p.Arg109Leu,ENST00000309439,NM_014885.4;ANAPC10,missense_variant,p.Arg109Leu,ENST00000514390,NM_001256708.1;ANAPC10,missense_variant,p.Arg109Leu,ENST00000513054,NM_001256709.1;ANAPC10,missense_variant,p.Arg109Leu,ENST00000512680,;ANAPC10,missense_variant,p.Arg109Leu,ENST00000504721,;ANAPC10,splice_region_variant,,ENST00000510270,;ANAPC10,splice_region_variant,,ENST00000508087,;ANAPC10,splice_region_variant,,ENST00000502562,;ANAPC10,splice_region_variant,,ENST00000506851,;ANAPC10,intron_variant,,ENST00000502651,;ANAPC10,intron_variant,,ENST00000511466,;							MODERATE	326/558	R109L	APC10_HUMAN			Transcript		benign(0.003)	.	ENSP00000310071		CCDS43273.1			1	
RALGAPB	0	LGGM	GRCh37	20	37146257	37146257	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	134	7	.	.	ENST00000262879.6:c.1160G>T	p.Arg387Leu	p.R387L	ENST00000262879		387	cGg/cTg	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		141	1.61		HGNC	p.R215L		RALGAPB		SNV							ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37146257,G,T&fts=all		hmmpanther:PTHR21344		R/L		T	low	1444/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=201&re=400&var=R387L	tolerated(0.15)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Arg387Leu,ENST00000262879,;RALGAPB,missense_variant,p.Arg387Leu,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Arg165Leu,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Arg387Leu,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Arg215Leu,ENST00000438490,;RALGAPB,missense_variant,p.Arg387Leu,ENST00000537204,;MIR548O2,downstream_gene_variant,,ENST00000583129,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;							MODERATE	1160/4485	R387L	RLGPB_HUMAN			Transcript		benign(0.328)	.	ENSP00000262879		CCDS13305.1			1	
HBS1L	0	LGGM	GRCh37	6	135318066	135318066	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	7	.	.	ENST00000367837.5:c.814G>T	p.Gly272Trp	p.G272W	ENST00000367837	NM_006620.3	272	Ggg/Tgg	0	1	1	UPI00000372EA	0	getma.org/pdb.php?prot=HBS1L_HUMAN&from=258&to=480&var=G272W	ENST00000367837		ENSG00000112339	4834		103	4.565		HGNC	p.G207W		HBS1L		SNV							ENST00000415177	protein_coding	getma.org/?cm=var&var=hg19,6,135318066,C,A&fts=all		hmmpanther:PTHR23115:SF38,hmmpanther:PTHR23115,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540,Prints_domain:PR00315		G/W		A	high	1021/7163		getma.org/?cm=msa&ty=f&p=HBS1L_HUMAN&rb=258&re=480&var=G272W	deleterious(0)	E9PS53_HUMAN,E9PHZ9_HUMAN,D9YZV0_HUMAN,B7Z524_HUMAN,B7Z1K2_HUMAN			YES	HBS1L,missense_variant,p.Gly272Trp,ENST00000367837,NM_006620.3,NM_001145158.1;HBS1L,missense_variant,p.Gly230Trp,ENST00000367826,;HBS1L,missense_variant,p.Gly207Trp,ENST00000415177,;HBS1L,missense_variant,p.Gly108Trp,ENST00000527578,;HBS1L,missense_variant,p.Gly142Trp,ENST00000533274,;HBS1L,missense_variant,p.Gly108Trp,ENST00000367824,;HBS1L,missense_variant,p.Gly108Trp,ENST00000529641,;HBS1L,missense_variant,p.Gly108Trp,ENST00000527507,;HBS1L,5_prime_UTR_variant,,ENST00000445176,;HBS1L,3_prime_UTR_variant,,ENST00000526100,;							MODERATE	814/2055	G272W	HBS1L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356811		CCDS5173.1			1	
MUC3A	0	LGGM	GRCh37	7	100551315	100551315	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	110	7	.	.	ENST00000319509.7:c.66G>T	p.Ala22=	p.A22=	ENST00000319509		22	gcG/gcT	0	1	1	UPI000198CE7F	0		ENST00000319509		ENSG00000169894	7513		117			HGNC	p.A22A		MUC3A		SNV							ENST00000319509	protein_coding			hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF22,Low_complexity_(Seg):seg		A		T		66/3338				J3QST7_HUMAN,I0CMK2_HUMAN,H9XFA8_HUMAN			YES	MUC3A,synonymous_variant,p.=,ENST00000319509,;MUC3A,upstream_gene_variant,,ENST00000422757,;MUC3A,downstream_gene_variant,,ENST00000379458,;MUC3A,downstream_gene_variant,,ENST00000483366,;MUC3A,non_coding_transcript_exon_variant,,ENST00000483133,;MUC3A,upstream_gene_variant,,ENST00000414964,;							LOW	66/2631					Transcript			.	ENSP00000324834					1	
TTN	0	LGGM	GRCh37	2	179440846	179440846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	122	7	.	.	ENST00000589042.1:c.70013G>T	p.Arg23338Leu	p.R23338L	ENST00000589042	NM_001267550.1	23338	cGg/cTg	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		129	1.87		HGNC	p.R21697L		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179440846,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		R/L		A	low	65315/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=21658&re=21733&var=R21697L		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg23338Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg21697Leu,ENST00000591111,;TTN,missense_variant,p.Arg20770Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg14465Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg14398Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg14273Leu,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,;							MODERATE	65090/103053	R21697L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
MATR3	0	LGGM	GRCh37	5	138651876	138651876	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	59	7	.	.	ENST00000394805.3:c.1128G>T	p.Leu376=	p.L376=	ENST00000394805	NM_001194955.1	376	ctG/ctT	0	1	1	UPI0000000DEE	0		ENST00000394805		ENSG00000015479	6912		66			HGNC	p.L376L		MATR3		SNV			1				ENST00000394805	protein_coding			hmmpanther:PTHR15592,Low_complexity_(Seg):seg		L		T		1463/4843				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			YES	MATR3,splice_region_variant,p.=,ENST00000394800,;MATR3,splice_region_variant,p.=,ENST00000394805,NM_001194955.1,NM_018834.5;MATR3,splice_region_variant,p.=,ENST00000502929,;MATR3,splice_region_variant,p.=,ENST00000361059,NM_199189.2;MATR3,splice_region_variant,p.=,ENST00000509990,NM_001194954.1;MATR3,splice_region_variant,p.=,ENST00000510056,;MATR3,splice_region_variant,p.=,ENST00000502499,;MATR3,splice_region_variant,p.=,ENST00000503811,NM_001194956.1;MATR3,splice_region_variant,p.=,ENST00000504203,;MATR3,splice_region_variant,p.=,ENST00000504045,;MATR3,splice_region_variant,p.=,ENST00000515833,;MATR3,splice_region_variant,p.=,ENST00000509644,;MATR3,splice_region_variant,p.=,ENST00000512876,;MATR3,splice_region_variant,p.=,ENST00000514528,;MATR3,splice_region_variant,p.=,ENST00000513678,;MATR3,splice_region_variant,p.=,ENST00000504311,;MATR3,intron_variant,,ENST00000511249,;MATR3,downstream_gene_variant,,ENST00000506147,;MATR3,downstream_gene_variant,,ENST00000512107,;MATR3,splice_region_variant,,ENST00000511978,;MATR3,splice_region_variant,,ENST00000509918,;MATR3,splice_region_variant,,ENST00000505625,;MATR3,splice_region_variant,,ENST00000504643,;MATR3,splice_region_variant,,ENST00000502422,;MATR3,splice_region_variant,,ENST00000511333,;MATR3,downstream_gene_variant,,ENST00000513121,;MATR3,downstream_gene_variant,,ENST00000507860,;MATR3,downstream_gene_variant,,ENST00000514402,;							LOW	1128/2544		MATR3_HUMAN			Transcript			.	ENSP00000378284		CCDS4210.1			1	
ZCCHC2	0	LGGM	GRCh37	18	60241560	60241560	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	75	7	.	.	ENST00000269499.5:c.2246G>T	p.Gly749Val	p.G749V	ENST00000269499	NM_017742.4	749	gGg/gTg	0	1	1	UPI00016D385A	0	NA	ENST00000269499		ENSG00000141664	22916		82	0.805		HGNC	p.G749V		ZCCHC2		SNV							ENST00000269499	protein_coding	getma.org/?cm=var&var=hg19,18,60241560,G,T&fts=all		hmmpanther:PTHR16195,hmmpanther:PTHR16195:SF13		G/V		T	low	2664/5959		getma.org/?cm=msa&ty=f&p=ZCHC2_HUMAN&rb=601&re=800&var=G749V	deleterious(0.03)	K7ERQ9_HUMAN,B2RPG6_HUMAN			YES	ZCCHC2,missense_variant,p.Gly749Val,ENST00000269499,NM_017742.4;ZCCHC2,missense_variant,p.Gly428Val,ENST00000586834,;ZCCHC2,upstream_gene_variant,,ENST00000587612,;ZCCHC2,missense_variant,p.Gly669Val,ENST00000585873,;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,;ZCCHC2,upstream_gene_variant,,ENST00000591145,;							MODERATE	2246/3537	G749V	ZCHC2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000269499		CCDS45880.1			1	
SPATA6	0	LGGM	GRCh37	1	48764490	48764490	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	94	7	.	.	ENST00000371847.3:c.1362G>T	p.Lys454Asn	p.K454N	ENST00000371847	NM_019073.2	454	aaG/aaT	0	1	1	UPI0000049C41	0	NA	ENST00000371847		ENSG00000132122	18309		101	1.1		HGNC	p.K438N		SPATA6		SNV							ENST00000371843	protein_coding	getma.org/?cm=var&var=hg19,1,48764490,C,A&fts=all		hmmpanther:PTHR16435:SF3,hmmpanther:PTHR16435		K/N		A	low	1527/4973		getma.org/?cm=msa&ty=f&p=SPAT6_HUMAN&rb=1&re=486&var=K454N	deleterious(0)				YES	SPATA6,missense_variant,p.Lys454Asn,ENST00000371847,NM_019073.2,NM_001286239.1;SPATA6,missense_variant,p.Lys438Asn,ENST00000371843,NM_001286238.1;SPATA6,missense_variant,p.Lys382Asn,ENST00000396199,;SPATA6,3_prime_UTR_variant,,ENST00000603831,;							MODERATE	1362/1467	K454N	SPAT6_HUMAN			Transcript		benign(0.177)	.	ENSP00000360913		CCDS551.1			1	
ADARB1	0	LGGM	GRCh37	21	46604856	46604856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	114	7	.	.	ENST00000539173.1:c.1535C>A	p.Pro512Gln	p.P512Q	ENST00000539173	NM_015833.3	512	cCa/cAa	0	1		UPI0000133622	0	getma.org/pdb.php?prot=RED1_HUMAN&from=370&to=733&var=P512Q	ENST00000360697		ENSG00000197381	226		121	2.38		HGNC	p.P500Q		ADARB1		SNV							ENST00000389861	protein_coding	getma.org/?cm=var&var=hg19,21,46604856,C,A&fts=all		Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF58,SMART_domains:SM00552		P/Q		A	medium	1550/6604		getma.org/?cm=msa&ty=f&p=RED1_HUMAN&rb=370&re=733&var=P512Q	deleterious(0.03)	C9JUP4_HUMAN				ADARB1,missense_variant,p.Pro512Gln,ENST00000539173,NM_015833.3;ADARB1,missense_variant,p.Pro472Gln,ENST00000348831,NM_001112.3,NM_001160230.1;ADARB1,missense_variant,p.Pro512Gln,ENST00000360697,;ADARB1,missense_variant,p.Pro512Gln,ENST00000389863,NM_015834.3;ADARB1,3_prime_UTR_variant,,ENST00000437626,;ADARB1,missense_variant,p.Pro512Gln,ENST00000496664,;ADARB1,missense_variant,p.Pro500Gln,ENST00000389861,;ADARB1,missense_variant,p.Pro472Gln,ENST00000492414,;							MODERATE	1535/2226	P512Q	RED1_HUMAN			Transcript		benign(0.199)	.	ENSP00000353920		CCDS33589.1			1	
MYO16	0	LGGM	GRCh37	13	109617109	109617109	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	118	7	.	.	ENST00000356711.2:c.2162G>T	p.Gly721Val	p.G721V	ENST00000356711	NM_015011.1	721	gGg/gTg	0	1	1	UPI0000160FF2	0	getma.org/pdb.php?prot=MYO16_HUMAN&from=403&to=1133&var=G721V	ENST00000356711		ENSG00000041515	29822		125	3.04		HGNC	p.G721V		MYO16		SNV							ENST00000357550	protein_coding	getma.org/?cm=var&var=hg19,13,109617109,G,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,SMART_domains:SM00242,Superfamily_domains:SSF52540		G/V		T	medium	2288/6874		getma.org/?cm=msa&ty=f&p=MYO16_HUMAN&rb=403&re=1133&var=G721V	deleterious(0)				YES	MYO16,missense_variant,p.Gly721Val,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Gly721Val,ENST00000357550,NM_001198950.1;MYO16,missense_variant,p.Gly721Val,ENST00000251041,;MYO16,missense_variant,p.Gly233Val,ENST00000457511,;MYO16,splice_region_variant,,ENST00000375857,;							MODERATE	2162/5577	G721V	MYO16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349145		CCDS32008.1			1	
ZFAND4	0	LGGM	GRCh37	10	46135410	46135410	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	133	7	.	.	ENST00000344646.5:c.571G>T	p.Gly191Cys	p.G191C	ENST00000344646	NM_174890.2	191	Ggt/Tgt	0	1	1	UPI0000161363	0	NA	ENST00000344646		ENSG00000172671	23504		140	1.525		HGNC	p.G117C		ZFAND4		SNV							ENST00000374366	protein_coding	getma.org/?cm=var&var=hg19,10,46135410,C,A&fts=all		hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666		G/C		A	low	787/3241		getma.org/?cm=msa&ty=f&p=ZFAN4_HUMAN&rb=1&re=200&var=G191C	deleterious(0)	Q5VVY6_HUMAN,J3KPC0_HUMAN			YES	ZFAND4,missense_variant,p.Gly117Cys,ENST00000374366,NM_001282905.1,NM_001282906.1;ZFAND4,missense_variant,p.Gly191Cys,ENST00000344646,NM_174890.2,NM_001128324.2;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,splice_region_variant,,ENST00000374370,;ZFAND4,splice_region_variant,,ENST00000465407,;							MODERATE	571/2184	G191C	ZFAN4_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000339484		CCDS7214.1			1	
ZC2HC1C	0	LGGM	GRCh37	14	75537544	75537544	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	130	7	.	.	ENST00000524913.1:c.268G>T	p.Gly90Ter	p.G90*	ENST00000524913	NM_024643.2	90	Gga/Tga	0	1	1	UPI000059D27D	0	NA	ENST00000524913		ENSG00000119703	20354		137	0		HGNC	p.G90X		ZC2HC1C		SNV							ENST00000534151	protein_coding	getma.org/?cm=var&var=hg19,14,75537544,G,T&fts=all		hmmpanther:PTHR14649		G/*		T	NA	757/2392		NA		J3KMY6_HUMAN,G3V3E3_HUMAN,E9PNG2_HUMAN,E9PMG6_HUMAN,E9PJ43_HUMAN			YES	ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000524913,NM_024643.2;ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000238686,;ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000439583,NM_001042430.1;ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000526130,;ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000534151,;ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000554763,;ZC2HC1C,stop_gained,p.Gly90Ter,ENST00000525046,;ACYP1,upstream_gene_variant,,ENST00000555463,;ZC2HC1C,upstream_gene_variant,,ENST00000532198,;ZC2HC1C,intron_variant,,ENST00000526748,;							HIGH	268/1371	G90*	ZC21C_HUMAN			Transcript			.	ENSP00000435550		CCDS41972.1			1	
KBTBD12	0	LGGM	GRCh37	3	127646799	127646799	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	120	7	.	.	ENST00000405109.1:c.1263C>A	p.Pro421=	p.P421=	ENST00000405109		421	ccC/ccA	0	1	1	UPI00001D802F	0		ENST00000405109		ENSG00000187715	25731		127			HGNC	p.P28P		KBTBD12		SNV							ENST00000407609	protein_coding			Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF25,SMART_domains:SM00612		P		A		1730/5727				B5MCZ4_HUMAN			YES	KBTBD12,synonymous_variant,p.=,ENST00000405109,;KBTBD12,synonymous_variant,p.=,ENST00000405256,NM_207335.2;KBTBD12,synonymous_variant,p.=,ENST00000407609,;KBTBD12,intron_variant,,ENST00000343941,;KBTBD12,intron_variant,,ENST00000492025,;KBTBD12,intron_variant,,ENST00000476626,;KBTBD12,non_coding_transcript_exon_variant,,ENST00000497045,;							LOW	1263/1872		KBTBC_HUMAN			Transcript			.	ENSP00000385957		CCDS33848.2			1	
DTNB	0	LGGM	GRCh37	2	25819098	25819098	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	125	7	.	.	ENST00000406818.3:c.460C>A	p.Gln154Lys	p.Q154K	ENST00000406818	NM_001256303.1	154	Cag/Aag	0	1	1	UPI0000129949	0	getma.org/pdb.php?prot=DTNB_HUMAN&from=144&to=232&var=Q154K	ENST00000406818		ENSG00000138101	3058		132	3.045		HGNC	p.Q154K		DTNB		SNV							ENST00000407661	protein_coding	getma.org/?cm=var&var=hg19,2,25819098,G,T&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF09069,PIRSF_domain:PIRSF038204,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF227,Superfamily_domains:SSF47473		Q/K		T	medium	710/2474		getma.org/?cm=msa&ty=f&p=DTNB_HUMAN&rb=144&re=232&var=Q154K	deleterious(0)	Q53TC8_HUMAN,Q53T51_HUMAN,Q53SF9_HUMAN,Q53QV1_HUMAN,F8W9U0_HUMAN,E9PE76_HUMAN,E7ES64_HUMAN			YES	DTNB,missense_variant,p.Gln154Lys,ENST00000406818,NM_001256303.1,NM_021907.4;DTNB,missense_variant,p.Gln154Lys,ENST00000407661,NM_183360.2,NM_001256304.1;DTNB,missense_variant,p.Gln154Lys,ENST00000404103,NM_033147.3;DTNB,missense_variant,p.Gln154Lys,ENST00000288642,;DTNB,missense_variant,p.Gln97Lys,ENST00000496972,NM_001256308.1;DTNB,missense_variant,p.Gln154Lys,ENST00000407038,NM_033148.3;DTNB,missense_variant,p.Gln154Lys,ENST00000407186,;DTNB,missense_variant,p.Gln154Lys,ENST00000405222,NM_183361.2;DTNB,missense_variant,p.Gln154Lys,ENST00000303659,;DTNB,intron_variant,,ENST00000545439,;DTNB,non_coding_transcript_exon_variant,,ENST00000472690,;DTNB,non_coding_transcript_exon_variant,,ENST00000474987,;DTNB,non_coding_transcript_exon_variant,,ENST00000473113,;DTNB,non_coding_transcript_exon_variant,,ENST00000485845,;DTNB,non_coding_transcript_exon_variant,,ENST00000493386,;DTNB,intron_variant,,ENST00000398951,;DTNB,intron_variant,,ENST00000356599,;DTNB,intron_variant,,ENST00000493538,;							MODERATE	460/1884	Q154K	DTNB_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000384084		CCDS46237.1			1	
PROX2	0	LGGM	GRCh37	14	75323614	75323614	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	152	7	.	.	ENST00000556084.2:c.817C>A	p.Arg273=	p.R273=	ENST00000556084	NM_001080408.2	273	Cgg/Agg	0	1		UPI0002190191	0		ENST00000556489		ENSG00000119608	26715		159			HGNC	p.R500R	rs377349470	PROX2		SNV	A:0.0003						ENST00000556489	protein_coding			hmmpanther:PTHR12198,hmmpanther:PTHR12198:SF4,Pfam_domain:PF05044,Gene3D:1mijA00,Superfamily_domains:SSF46689		R	A:0	T		1498/2763	1.50E-05			G3V3G0_HUMAN				PROX2,synonymous_variant,p.=,ENST00000556084,NM_001080408.2;PROX2,synonymous_variant,p.=,ENST00000556489,NM_001243007.1;PROX2,synonymous_variant,p.=,ENST00000445876,;YLPM1,downstream_gene_variant,,ENST00000554107,;RP11-316E14.6,downstream_gene_variant,,ENST00000553381,;							LOW	1498/1779					Transcript			.	ENSP00000451223	8.28E-06				1	
TRAPPC8	0	LGGM	GRCh37	18	29446825	29446825	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	120	7	.	.	ENST00000283351.4:c.2577C>A	p.Pro859=	p.P859=	ENST00000283351	NM_014939.3	859	ccC/ccA	0	1	1	UPI0000052E22	0		ENST00000283351		ENSG00000153339	29169		127			HGNC	p.P805P	rs61736045	TRAPPC8		SNV	A:0.0266			0.00241			ENST00000582539	protein_coding			hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6		P	A:0.0001	T		2913/6226	3.00E-05			J3QQJ5_HUMAN,J3QKL6_HUMAN			YES	TRAPPC8,synonymous_variant,p.=,ENST00000283351,NM_014939.3;TRAPPC8,synonymous_variant,p.=,ENST00000582539,;TRAPPC8,downstream_gene_variant,,ENST00000577474,;TRAPPC8,synonymous_variant,p.=,ENST00000580104,;TRAPPC8,downstream_gene_variant,,ENST00000578252,;		T:0.0010					LOW	2577/4308		TPPC8_HUMAN			Transcript			common_variant	ENSP00000283351	0.000222	CCDS11901.1			1	
BLTP2	0	LGGM	GRCh37	17	26966923	26966923	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	115	7	.	.	ENST00000528896.2:c.1011G>T	p.Leu337=	p.L337=	ENST00000528896	NM_014680.3	337	ctG/ctT	0	1	1	UPI00004B4130	0		ENST00000528896		ENSG00000007202	28960		122			HGNC	p.L337L		KIAA0100		SNV							ENST00000005905	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15678,Pfam_domain:PF10344		L		A		1086/7407				Q08E86_HUMAN,G1UI35_HUMAN			YES	KIAA0100,synonymous_variant,p.=,ENST00000528896,NM_014680.3;KIAA0100,synonymous_variant,p.=,ENST00000544884,;KIAA0100,synonymous_variant,p.=,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,downstream_gene_variant,,ENST00000577580,;KIAA0100,downstream_gene_variant,,ENST00000582901,;KIAA0100,downstream_gene_variant,,ENST00000579253,;							LOW	1011/6708		K0100_HUMAN			Transcript			.	ENSP00000436773		CCDS32595.1			1	
PPP1R12B	0	LGGM	GRCh37	1	202394750	202394750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	154	7	.	.	ENST00000608999.1:c.598C>A	p.Arg200Ser	p.R200S	ENST00000608999	NM_002481.3	200	Cgc/Agc	0	1	1	UPI0000458A57	0	getma.org/pdb.php?prot=MYPT2_HUMAN&from=156&to=215&var=R200S	ENST00000608999		ENSG00000077157	7619		161	1.555		HGNC	p.R200S	COSM531775	PPP1R12B		SNV						1	ENST00000336894	protein_coding	getma.org/?cm=var&var=hg19,1,202394750,C,A&fts=all		Gene3D:1.25.40.20,PIRSF_domain:PIRSF038141,PROSITE_profiles:PS50297,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF18,Superfamily_domains:SSF48403		R/S		A	low	751/15248		getma.org/?cm=msa&ty=f&p=MYPT2_HUMAN&rb=156&re=215&var=R200S	deleterious(0.02)				YES	PPP1R12B,missense_variant,p.Arg200Ser,ENST00000608999,NM_002481.3,NM_001197131.1;PPP1R12B,missense_variant,p.Arg200Ser,ENST00000336894,;PPP1R12B,missense_variant,p.Arg200Ser,ENST00000480184,NM_001167857.1;PPP1R12B,missense_variant,p.Arg200Ser,ENST00000356764,NM_001167858.1;PPP1R12B,intron_variant,,ENST00000466968,;PPP1R12B,3_prime_UTR_variant,,ENST00000476364,;PPP1R12B,upstream_gene_variant,,ENST00000488330,;					1		MODERATE	598/2949	R200S				Transcript		possibly_damaging(0.781)	.	ENSP00000476755		CCDS1426.1			1	
POSTN	0	LGGM	GRCh37	13	38154801	38154801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	121	7	.	.	ENST00000379747.4:c.1426G>T	p.Gly476Trp	p.G476W	ENST00000379747	NM_006475.2	476	Ggg/Tgg	0	1	1	UPI000013CEB8	0	getma.org/pdb.php?prot=POSTN_HUMAN&from=379&to=494&var=G476W	ENST00000379747		ENSG00000133110	16953		128	2.075		HGNC	p.G476W		POSTN		SNV							ENST00000379749	protein_coding	getma.org/?cm=var&var=hg19,13,38154801,C,A&fts=all		Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12,SMART_domains:SM00554,Superfamily_domains:SSF82153,Superfamily_domains:SSF82153		G/W		A	medium	1544/3373		getma.org/?cm=msa&ty=f&p=POSTN_HUMAN&rb=379&re=494&var=G476W	deleterious(0)				YES	POSTN,missense_variant,p.Gly476Trp,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.Gly476Trp,ENST00000541179,NM_001135935.1,NM_001135936.1;POSTN,missense_variant,p.Gly476Trp,ENST00000379749,;POSTN,missense_variant,p.Gly476Trp,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.Gly476Trp,ENST00000379742,NM_001135934.1;POSTN,missense_variant,p.Gly476Trp,ENST00000541481,NM_001286666.1;							MODERATE	1426/2511	G476W	POSTN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369071		CCDS9364.1			1	
MOB1A	0	LGGM	GRCh37	2	74399835	74399835	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	136	7	.	.	ENST00000396049.4:c.59C>A	p.Pro20His	p.P20H	ENST00000396049	NM_018221.3	20	cCt/cAt	0	1	1	UPI0000028995	0	NA	ENST00000396049		ENSG00000114978	16015		143	2.405		HGNC	p.P20H		MOB1A		SNV							ENST00000396049	protein_coding	getma.org/?cm=var&var=hg19,2,74399835,G,T&fts=all		Superfamily_domains:0049093,hmmpanther:PTHR22599,hmmpanther:PTHR22599:SF16		P/H		T	medium	253/4885		getma.org/?cm=msa&ty=f&p=MOB1A_HUMAN&rb=1&re=200&var=P20H	deleterious(0.02)				YES	MOB1A,missense_variant,p.Pro20His,ENST00000396049,NM_018221.3;MOB1A,missense_variant,p.Pro20His,ENST00000409969,;MOB1A,non_coding_transcript_exon_variant,,ENST00000497054,;MOB1A,non_coding_transcript_exon_variant,,ENST00000495286,;MOB1A,non_coding_transcript_exon_variant,,ENST00000488006,;MOB1A,non_coding_transcript_exon_variant,,ENST00000463975,;							MODERATE	59/651	P20H	MOB1A_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000379364		CCDS46340.1			1	
COG4	0	LGGM	GRCh37	16	70551622	70551622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	120	7	.	.	ENST00000323786.5:c.276G>T	p.Glu92Asp	p.E92D	ENST00000323786	NM_015386.2	92	gaG/gaT	0	1	1	UPI000059D3B0	0	NA	ENST00000323786		ENSG00000103051	18620		127	1.2		HGNC	p.E92D		COG4		SNV			1				ENST00000323786	protein_coding	getma.org/?cm=var&var=hg19,16,70551622,C,A&fts=all		hmmpanther:PTHR24016:SF0,hmmpanther:PTHR24016		E/D		A	low	298/2833		getma.org/?cm=msa&ty=f&p=COG4_HUMAN&rb=1&re=187&var=E88D	tolerated(0.43)	J3KRB5_HUMAN,J3KNI1_HUMAN,B4DDL2_HUMAN			YES	COG4,missense_variant,p.Glu92Asp,ENST00000323786,NM_015386.2,NM_001195139.1;COG4,missense_variant,p.Glu88Asp,ENST00000393612,;COG4,missense_variant,p.Glu15Asp,ENST00000534772,;COG4,missense_variant,p.Glu92Asp,ENST00000564653,;COG4,missense_variant,p.Glu92Asp,ENST00000564415,;COG4,missense_variant,p.Glu88Asp,ENST00000482252,;COG4,3_prime_UTR_variant,,ENST00000524584,;COG4,non_coding_transcript_exon_variant,,ENST00000530314,;COG4,non_coding_transcript_exon_variant,,ENST00000562200,;COG4,intron_variant,,ENST00000530160,;							MODERATE	276/2370	E88D				Transcript		possibly_damaging(0.535)	.	ENSP00000315775		CCDS10892.2			1	
LRRC37A3	0	LGGM	GRCh37	17	62856845	62856845	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	158	7	.	.	ENST00000584306.1:c.3419C>A	p.Pro1140Gln	p.P1140Q	ENST00000584306	NM_199340.2	1140	cCg/cAg	0	1		UPI00005B2F0A	0	NA	ENST00000319651		ENSG00000176809	32427		165	2.19		HGNC	p.P1140Q	rs373423356	LRRC37A3		SNV	T:0.0002			9.61E-05			ENST00000584306	protein_coding	getma.org/?cm=var&var=hg19,17,62856845,G,T&fts=all		hmmpanther:PTHR23045		P/Q	T:0	T	medium	3822/5537		getma.org/?cm=msa&ty=f&p=L37A3_HUMAN&rb=977&re=1632&var=P1140Q	deleterious(0)	F8W7X0_HUMAN,B4DSF2_HUMAN				LRRC37A3,missense_variant,p.Pro1140Gln,ENST00000584306,NM_199340.2;LRRC37A3,missense_variant,p.Pro1140Gln,ENST00000319651,;LRRC37A3,missense_variant,p.Pro178Gln,ENST00000400877,;LRRC37A3,missense_variant,p.Pro117Gln,ENST00000334962,;LRRC37A3,missense_variant,p.Pro258Gln,ENST00000339474,;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;							MODERATE	3419/4905	P1140Q	L37A3_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000325713	8.24E-06	CCDS32708.1			1	
PSG3	0	LGGM	GRCh37	19	43242889	43242889	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	135	7	.	.	ENST00000327495.5:c.417C>A	p.Thr139=	p.T139=	ENST00000327495	NM_021016.3	139	acC/acA	0	1	1	UPI0000073DC1	0		ENST00000327495		ENSG00000221826	9520		142			HGNC	p.T139T		PSG3		SNV							ENST00000595140	protein_coding			hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,SMART_domains:SM00409		T		T		602/1961							YES	PSG3,synonymous_variant,p.=,ENST00000327495,NM_021016.3;PSG3,synonymous_variant,p.=,ENST00000595140,;PSG3,non_coding_transcript_exon_variant,,ENST00000490592,;PSG3,synonymous_variant,p.=,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;							LOW	417/1287		PSG3_HUMAN			Transcript			.	ENSP00000332215		CCDS12611.1			1	
RAE1	0	LGGM	GRCh37	20	55940415	55940415	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	102	7	.	.	ENST00000395841.2:c.292G>T	p.Gly98Trp	p.G98W	ENST00000395841	NM_003610.3	98	Ggg/Tgg	0	1		UPI0000133017	0	getma.org/pdb.php?prot=RAE1L_HUMAN&from=80&to=114&var=G98W	ENST00000371242		ENSG00000101146	9828		109	3.895		HGNC	p.G98W		RAE1		SNV							ENST00000492498	protein_coding	getma.org/?cm=var&var=hg19,20,55940415,G,T&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF11,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/W		T	high	435/2362		getma.org/?cm=msa&ty=f&p=RAE1L_HUMAN&rb=80&re=114&var=G98W	deleterious(0)	B0QZ37_HUMAN,B0QZ36_HUMAN				RAE1,missense_variant,p.Gly98Trp,ENST00000395841,NM_003610.3;RAE1,missense_variant,p.Gly98Trp,ENST00000395840,NM_001015885.1;RAE1,missense_variant,p.Gly98Trp,ENST00000371242,;RAE1,missense_variant,p.Gly98Trp,ENST00000527947,;RAE1,missense_variant,p.Gly98Trp,ENST00000411894,;RAE1,missense_variant,p.Gly98Trp,ENST00000429339,;RAE1,missense_variant,p.Gly98Trp,ENST00000492498,;							MODERATE	292/1107	G98W	RAE1L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360286		CCDS13458.1			1	
LRP2	0	LGGM	GRCh37	2	170042197	170042197	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	95	7	.	.	ENST00000263816.3:c.9661C>A	p.Leu3221Ile	p.L3221I	ENST00000263816	NM_004525.2	3221	Ctc/Atc	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=3156&to=3281&var=L3221I	ENST00000263816		ENSG00000081479	6694		102	1.225		HGNC	p.L3221I		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170042197,G,T&fts=all		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825		L/I		T	low	9947/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=3156&re=3281&var=L3221I		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Leu3221Ile,ENST00000263816,NM_004525.2;LRP2,upstream_gene_variant,,ENST00000461418,;							MODERATE	9661/13968	L3221I	LRP2_HUMAN			Transcript		benign(0.029)	.	ENSP00000263816		CCDS2232.1			1	
DST	0	LGGM	GRCh37	6	56485366	56485366	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	141	7	.	.	ENST00000244364.6:c.3318+3962C>A		*1106*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		148			HGNC	p.R1156R	rs577972555	DST		SNV			1				ENST00000370765	protein_coding		C:0					T		-/16742				Q86T18_HUMAN	C:0	C:0	YES	DST,synonymous_variant,p.=,ENST00000370765,NM_001723.5;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000522360,;DST,downstream_gene_variant,,ENST00000518935,;	0.000116	C:0.0002					MODIFIER	-/15516		DYST_HUMAN		C:0	Transcript			.	ENSP00000244364	8.24E-06	CCDS47443.1		C:0.001	1	
FZD3	0	LGGM	GRCh37	8	28409193	28409193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	84	7	.	.	ENST00000240093.3:c.1478C>A	p.Pro493His	p.P493H	ENST00000240093	NM_017412.3	493	cCc/cAc	0	1	1	UPI000003156A	0	NA	ENST00000240093		ENSG00000104290	4041		91	1.78		HGNC	p.P493H		FZD3		SNV							ENST00000537916	protein_coding	getma.org/?cm=var&var=hg19,8,28409193,C,A&fts=all		Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,Transmembrane_helices:TMhelix		P/H		A	low	1956/13726		getma.org/?cm=msa&ty=f&p=FZD3_HUMAN&rb=192&re=517&var=P493H	deleterious(0.01)	E5RGI9_HUMAN			YES	FZD3,missense_variant,p.Pro493His,ENST00000240093,NM_017412.3;FZD3,missense_variant,p.Pro493His,ENST00000537916,NM_145866.1;							MODERATE	1478/2001	P493H	FZD3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000240093		CCDS6069.1			1	
TTI1	0	LGGM	GRCh37	20	36640427	36640427	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	7	.	.	ENST00000373448.2:c.1792G>T	p.Gly598Cys	p.G598C	ENST00000373448	NM_014657.1	598	Ggt/Tgt	0	1		UPI000012DB27	0	NA	ENST00000373447		ENSG00000101407	29029		98	1.79		HGNC	p.G598C		TTI1		SNV							ENST00000373447	protein_coding	getma.org/?cm=var&var=hg19,20,36640427,C,A&fts=all		PIRSF_domain:PIRSF005250,hmmpanther:PTHR18460		G/C		A	low	1898/3825		getma.org/?cm=msa&ty=f&p=TTI1_HUMAN&rb=1&re=1068&var=G598C	deleterious(0)	D6W4K3_HUMAN				TTI1,missense_variant,p.Gly598Cys,ENST00000373448,NM_014657.1;TTI1,missense_variant,p.Gly598Cys,ENST00000373447,;TTI1,missense_variant,p.Gly598Cys,ENST00000449821,;TTI1,non_coding_transcript_exon_variant,,ENST00000487362,;							MODERATE	1792/3270	G598C	TTI1_HUMAN			Transcript		possibly_damaging(0.754)	.	ENSP00000362546		CCDS13300.1			1	
OTOR	0	LGGM	GRCh37	20	16729075	16729075	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	139	8	.	.	ENST00000246081.2:c.29C>A	p.Pro10Gln	p.P10Q	ENST00000246081	NM_020157.3	10	cCg/cAg	0	1	1	UPI0000047809	0	NA	ENST00000246081		ENSG00000125879	8517		147	0		HGNC	p.P10Q		OTOR		SNV							ENST00000246081	protein_coding	getma.org/?cm=var&var=hg19,20,16729075,C,A&fts=all		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23158		P/Q		A	neutral	73/1477		getma.org/?cm=msa&ty=f&p=OTOR_HUMAN&rb=1&re=42&var=P10Q	tolerated(0.31)				YES	OTOR,missense_variant,p.Pro10Gln,ENST00000246081,NM_020157.3;OTOR,upstream_gene_variant,,ENST00000486129,;OTOR,upstream_gene_variant,,ENST00000490148,;							MODERATE	29/387	P10Q	OTOR_HUMAN			Transcript		benign(0.104)	.	ENSP00000246081		CCDS13124.1			1	
ZCCHC11	0	LGGM	GRCh37	1	52947234	52947234	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	158	8	.	.	ENST00000257177.4:c.1709G>T	p.Trp570Leu	p.W570L	ENST00000257177		570	tGg/tTg	0	1		UPI00002371F6	0	NA	ENST00000371544		ENSG00000134744	28981		166	2.295		HGNC	p.W570L		ZCCHC11		SNV							ENST00000257177	protein_coding	getma.org/?cm=var&var=hg19,1,52947234,C,A&fts=all		hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF49		W/L		A	medium	1972/5858		getma.org/?cm=msa&ty=f&p=TUT4_HUMAN&rb=401&re=600&var=W570L	deleterious(0.02)	H0YEY0_HUMAN,E9PQS7_HUMAN,E9PJN7_HUMAN				ZCCHC11,missense_variant,p.Trp570Leu,ENST00000371544,NM_015269.2,NM_001009881.2;ZCCHC11,missense_variant,p.Trp570Leu,ENST00000257177,;ZCCHC11,missense_variant,p.Trp329Leu,ENST00000484723,;ZCCHC11,intron_variant,,ENST00000528642,;ZCCHC11,non_coding_transcript_exon_variant,,ENST00000371541,;ZCCHC11,3_prime_UTR_variant,,ENST00000473856,;							MODERATE	1709/4935	W570L	TUT4_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000360599		CCDS30716.1			1	
IGKV1-5	0	LGGM	GRCh37	2	89247088	89247088	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	123	8	.	.	ENST00000496168.1:c.82C>A	p.Gln28Lys	p.Q28K	ENST00000496168		28	Cag/Aag	0	1	1	UPI0000140AA1	0		ENST00000496168		ENSG00000243466	5741		131			HGNC	p.Q28K		IGKV1-5		SNV							ENST00000496168	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		Q/K		T		263/532			deleterious(0.01)				YES	IGKV1-5,missense_variant,p.Gln28Lys,ENST00000496168,;							MODERATE	82/351					Transcript		probably_damaging(0.949)	.	ENSP00000420436					1	
UAP1	0	LGGM	GRCh37	1	162557437	162557437	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	131	8	.	.	ENST00000367926.4:c.1007C>A	p.Pro336Gln	p.P336Q	ENST00000367926	NM_003115.4	336	cCa/cAa	0	1		UPI0000112073	0	getma.org/pdb.php?prot=UAP1_HUMAN&from=44&to=472&var=P336Q	ENST00000271469		ENSG00000117143	12457		139	0.505		HGNC	p.P336Q		UAP1		SNV							ENST00000271469	protein_coding	getma.org/?cm=var&var=hg19,1,162557437,C,A&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01704,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF4,Superfamily_domains:SSF53448		P/Q		A	neutral	1309/2344		getma.org/?cm=msa&ty=f&p=UAP1_HUMAN&rb=44&re=472&var=P336Q	tolerated(0.38)	B1AR80_HUMAN				UAP1,missense_variant,p.Pro336Gln,ENST00000271469,;UAP1,missense_variant,p.Pro336Gln,ENST00000367926,NM_003115.4;UAP1,missense_variant,p.Pro336Gln,ENST00000367925,;UAP1,missense_variant,p.Pro336Gln,ENST00000367924,;UAP1,non_coding_transcript_exon_variant,,ENST00000474728,;							MODERATE	1007/1569	P336Q	UAP1_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000271469					1	
TGFBR1	0	LGGM	GRCh37	9	101908862	101908862	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	187	8	.	.	ENST00000374994.4:c.1226G>T	p.Trp409Leu	p.W409L	ENST00000374994	NM_004612.2	409	tGg/tTg	0	1	1	UPI000011D62A	0	getma.org/pdb.php?prot=TGFR1_HUMAN&from=205&to=492&var=W409L	ENST00000374994		ENSG00000106799	11772		195	2.575		HGNC	p.W332L		TGFBR1		SNV			1				ENST00000374990	protein_coding	getma.org/?cm=var&var=hg19,9,101908862,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF61,hmmpanther:PTHR23255,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		W/L		T	medium	1343/6516		getma.org/?cm=msa&ty=f&p=TGFR1_HUMAN&rb=205&re=492&var=W409L	deleterious(0)	Q5T7S2_HUMAN,F8VVC4_HUMAN,B4DY26_HUMAN			YES	TGFBR1,missense_variant,p.Trp409Leu,ENST00000374994,NM_004612.2;TGFBR1,missense_variant,p.Trp413Leu,ENST00000552516,;TGFBR1,missense_variant,p.Trp332Leu,ENST00000374990,NM_001130916.1;TGFBR1,missense_variant,p.Trp340Leu,ENST00000550253,;RNA5SP290,upstream_gene_variant,,ENST00000517133,;TGFBR1,intron_variant,,ENST00000549766,;							MODERATE	1226/1512	W409L	TGFR1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364133		CCDS6738.1			1	
PRPF4B	0	LGGM	GRCh37	6	4032616	4032616	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	184	8	.	.	ENST00000337659.6:c.865G>T	p.Gly289Cys	p.G289C	ENST00000337659	NM_003913.4	289	Ggt/Tgt	0	1	1	UPI000013DD12	0	NA	ENST00000337659		ENSG00000112739	17346		192	0.895		HGNC	p.G289C		PRPF4B		SNV							ENST00000337659	protein_coding	getma.org/?cm=var&var=hg19,6,4032616,G,T&fts=all		Low_complexity_(Seg):seg		G/C		T	low	965/4415		getma.org/?cm=msa&ty=f&p=PRP4B_HUMAN&rb=91&re=498&var=G289C	deleterious_low_confidence(0.03)	H0YDJ3_HUMAN,F5H2U2_HUMAN			YES	PRPF4B,missense_variant,p.Gly289Cys,ENST00000337659,NM_003913.4;PRPF4B,missense_variant,p.Gly275Cys,ENST00000538861,;PRPF4B,missense_variant,p.Gly289Cys,ENST00000480058,;							MODERATE	865/3024	G289C	PRP4B_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000337194		CCDS4488.1			1	
MYH4	0	LGGM	GRCh37	17	10363352	10363352	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	163	8	.	.	ENST00000255381.2:c.1333C>A	p.Arg445Ser	p.R445S	ENST00000255381	NM_017533.2	445	Cgc/Agc	0	1	1	UPI000013CEAB	0	getma.org/pdb.php?prot=MYH4_HUMAN&from=88&to=770&var=R445S	ENST00000255381		ENSG00000264424	7574		171	3.15		HGNC	p.R445S		MYH4		SNV							ENST00000255381	protein_coding	getma.org/?cm=var&var=hg19,17,10363352,G,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/S		T	medium	1444/6016		getma.org/?cm=msa&ty=f&p=MYH4_HUMAN&rb=88&re=770&var=R445S	deleterious(0)				YES	MYH4,missense_variant,p.Arg445Ser,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	1333/5820	R445S	MYH4_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000255381		CCDS11154.1			1	
GPR98	0	LGGM	GRCh37	5	90086805	90086805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	167	8	.	.	ENST00000405460.2:c.14159C>A	p.Pro4720Gln	p.P4720Q	ENST00000405460	NM_032119.3	4720	cCa/cAa	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		175	2.255		HGNC	p.P381Q		GPR98		SNV			1				ENST00000425867	protein_coding	getma.org/?cm=var&var=hg19,5,90086805,C,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		P/Q		A	medium	14255/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=4693&re=4734&var=P4720Q					YES	GPR98,missense_variant,p.Pro4720Gln,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Pro381Gln,ENST00000425867,;GPR98,upstream_gene_variant,,ENST00000507314,;							MODERATE	14159/18921	P4720Q	GPR98_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000384582		CCDS47246.1			1	
FLG	0	LGGM	GRCh37	1	152276077	152276077	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	114	8	.	.	ENST00000368799.1:c.11285C>A	p.Pro3762Gln	p.P3762Q	ENST00000368799	NM_002016.1	3762	cCg/cAg	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		122	2.3		HGNC	p.P3762Q		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152276077,G,T&fts=all				P/Q		T	medium	11321/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3671&re=3820&var=P3762Q		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Pro3762Gln,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	11285/12186	P3762Q	FILA_HUMAN			Transcript		unknown(0)	.	ENSP00000357789		CCDS30860.1			1	
ST8SIA4	0	LGGM	GRCh37	5	100222270	100222270	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	54	8	.	.	ENST00000231461.5:c.280G>C	p.Asp94His	p.D94H	ENST00000231461	NM_005668.5	94	Gat/Cat	0	1	1	UPI0000135973	0	NA	ENST00000231461		ENSG00000113532	10871		62	2.42		HGNC	p.D94H		ST8SIA4		SNV							ENST00000451528	protein_coding	getma.org/?cm=var&var=hg19,5,100222270,C,G&fts=all		Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF31		D/H		G	medium	591/6303		getma.org/?cm=msa&ty=f&p=SIA8D_HUMAN&rb=90&re=355&var=D94H					YES	ST8SIA4,missense_variant,p.Asp94His,ENST00000231461,NM_005668.5;ST8SIA4,missense_variant,p.Asp94His,ENST00000451528,NM_175052.2;ST8SIA4,non_coding_transcript_exon_variant,,ENST00000507360,;							MODERATE	280/1080	D94H	SIA8D_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000231461		CCDS4091.1			1	
MPO	0	LGGM	GRCh37	17	56350994	56350994	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	31	8	.	.	ENST00000225275.3:c.1402G>T	p.Gly468Trp	p.G468W	ENST00000225275	NM_000250.1	468	Ggg/Tgg	0	1	1	UPI0000131634	0	getma.org/pdb.php?prot=PERM_HUMAN&from=173&to=718&var=G468W	ENST00000225275		ENSG00000005381	7218		39	4.27		HGNC	p.G468W		MPO		SNV			1				ENST00000225275	protein_coding	getma.org/?cm=var&var=hg19,17,56350994,C,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF46,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457		G/W		A	high	1579/3215		getma.org/?cm=msa&ty=f&p=PERM_HUMAN&rb=173&re=718&var=G468W	deleterious(0)				YES	MPO,missense_variant,p.Gly500Trp,ENST00000340482,;MPO,missense_variant,p.Gly468Trp,ENST00000225275,NM_000250.1;MPO,upstream_gene_variant,,ENST00000577220,;MPO,downstream_gene_variant,,ENST00000578493,;							MODERATE	1402/2238	G468W	PERM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000225275		CCDS11604.1			1	
DIS3L	0	LGGM	GRCh37	15	66624355	66624355	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	8	.	.	ENST00000319212.4:c.2678C>A	p.Pro893Gln	p.P893Q	ENST00000319212	NM_001143688.1	893	cCa/cAa	0	1	1	UPI000162779D	0	getma.org/pdb.php?prot=DI3L1_HUMAN&from=818&to=1017&var=P893Q	ENST00000319212		ENSG00000166938	28698		104	2.56		HGNC	p.P893Q		DIS3L		SNV							ENST00000319212	protein_coding	getma.org/?cm=var&var=hg19,15,66624355,C,A&fts=all		hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30,Superfamily_domains:SSF50249		P/Q		A	medium	2728/3647		getma.org/?cm=msa&ty=f&p=DI3L1_HUMAN&rb=818&re=1017&var=P893Q	deleterious(0)	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN			YES	DIS3L,missense_variant,p.Pro810Gln,ENST00000319194,NM_133375.3;DIS3L,missense_variant,p.Pro893Gln,ENST00000319212,NM_001143688.1;TIPIN,downstream_gene_variant,,ENST00000261881,NM_017858.2;TIPIN,downstream_gene_variant,,ENST00000367709,;TIPIN,downstream_gene_variant,,ENST00000562124,;RP11-352G18.2,upstream_gene_variant,,ENST00000565993,;DIS3L,downstream_gene_variant,,ENST00000568874,;DIS3L,3_prime_UTR_variant,,ENST00000530537,;TIPIN,downstream_gene_variant,,ENST00000566524,;DIS3L,downstream_gene_variant,,ENST00000564945,;							MODERATE	2678/3165	P893Q	DI3L1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000321711		CCDS45286.1			1	
OR4Q3	0	LGGM	GRCh37	14	20215706	20215706	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	179	8	.	.	ENST00000331723.1:c.120G>T	p.Leu40=	p.L40=	ENST00000331723	NM_172194.1	40	ctG/ctT	0	1	1	UPI0000061EF0	0		ENST00000331723		ENSG00000182652	15426		187			HGNC	p.L40L	COSM51610	OR4Q3		SNV						1	ENST00000331723	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF208,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L		T		120/942							YES	OR4Q3,synonymous_variant,p.=,ENST00000331723,NM_172194.1;OR4N2,intron_variant,,ENST00000557414,;OR11K2P,intron_variant,,ENST00000593630,;					1		LOW	120/942		OR4Q3_HUMAN			Transcript			.	ENSP00000330049		CCDS32020.1			1	
ACTR8	0	LGGM	GRCh37	3	53906474	53906474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	185	8	.	.	ENST00000335754.3:c.1239G>T	p.Gln413His	p.Q413H	ENST00000335754	NM_022899.4	413	caG/caT	0	1	1	UPI000013C95B	0	getma.org/pdb.php?prot=ARP8_HUMAN&from=43&to=621&var=Q413H	ENST00000335754		ENSG00000113812	14672		193	-0.345		HGNC	p.Q302H		ACTR8		SNV							ENST00000482349	protein_coding	getma.org/?cm=var&var=hg19,3,53906474,C,A&fts=all		hmmpanther:PTHR11937:SF13,hmmpanther:PTHR11937,Pfam_domain:PF00022,SMART_domains:SM00268		Q/H		A	neutral	1340/3629		getma.org/?cm=msa&ty=f&p=ARP8_HUMAN&rb=43&re=621&var=Q413H	tolerated(0.22)	C9J7L6_HUMAN			YES	ACTR8,missense_variant,p.Gln413His,ENST00000335754,NM_022899.4;ACTR8,missense_variant,p.Gln302His,ENST00000482349,;ACTR8,missense_variant,p.Gln167His,ENST00000486794,;ACTR8,missense_variant,p.Gln118His,ENST00000231909,;ACTR8,downstream_gene_variant,,ENST00000498740,;ACTR8,upstream_gene_variant,,ENST00000488802,;ACTR8,non_coding_transcript_exon_variant,,ENST00000495993,;							MODERATE	1239/1875	Q413H	ARP8_HUMAN			Transcript		benign(0.017)	.	ENSP00000336842		CCDS2875.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43837661	43837661	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	183	8	.	.	ENST00000389420.3:c.2223C>A	p.Pro741=	p.P741=	ENST00000389420	NM_025003.3	741	ccC/ccA	0	1	1	UPI00004565F4	0		ENST00000389420		ENSG00000173157	17178		191			HGNC	p.P741P		ADAMTS20		SNV							ENST00000553158	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF05986		P		T		2223/6076							YES	ADAMTS20,synonymous_variant,p.=,ENST00000389420,NM_025003.3;ADAMTS20,synonymous_variant,p.=,ENST00000553158,;ADAMTS20,upstream_gene_variant,,ENST00000395541,;ADAMTS20,upstream_gene_variant,,ENST00000549670,;							LOW	2223/5733		ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
ADAM29	0	LGGM	GRCh37	4	175897690	175897690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	108	8	.	.	ENST00000359240.3:c.1014G>T	p.Leu338Phe	p.L338F	ENST00000359240	NM_014269.4	338	ttG/ttT	0	1	1	UPI000013E9DE	0	getma.org/pdb.php?prot=ADA29_HUMAN&from=198&to=389&var=L338F	ENST00000359240		ENSG00000168594	207		116	2.15		HGNC	p.L338F		ADAM29		SNV							ENST00000445694	protein_coding	getma.org/?cm=var&var=hg19,4,175897690,G,T&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486		L/F		T	medium	1684/3325		getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=198&re=389&var=L338F	tolerated(0.07)	D6RHU0_HUMAN,D6RBU0_HUMAN			YES	ADAM29,missense_variant,p.Leu338Phe,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Leu338Phe,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Leu338Phe,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Leu338Phe,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,;							MODERATE	1014/2463	L338F	ADA29_HUMAN			Transcript		possibly_damaging(0.656)	.	ENSP00000352177		CCDS3823.1			1	
DENND2D	0	LGGM	GRCh37	1	111731342	111731342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	127	8	.	.	ENST00000357640.4:c.1081G>T	p.Gly361Trp	p.G361W	ENST00000357640	NM_024901.4	361	Ggg/Tgg	0	1	1	UPI000006E1E1	0	NA	ENST00000357640		ENSG00000162777	26192		135	1.1		HGNC	p.G358W		DENND2D		SNV							ENST00000369752	protein_coding	getma.org/?cm=var&var=hg19,1,111731342,C,A&fts=all		hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF2		G/W		A	low	1311/2077		getma.org/?cm=msa&ty=f&p=DEN2D_HUMAN&rb=334&re=370&var=G361W	deleterious(0.04)	Q8TCN6_HUMAN			YES	DENND2D,missense_variant,p.Gly361Trp,ENST00000357640,NM_024901.4;DENND2D,missense_variant,p.Gly358Trp,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,;							MODERATE	1081/1416	G361W	DEN2D_HUMAN			Transcript		possibly_damaging(0.571)	.	ENSP00000350266		CCDS831.1			1	
ZFAND1	0	LGGM	GRCh37	8	82615004	82615004	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	176	8	.	.	ENST00000220669.5:c.733G>T	p.Gly245Cys	p.G245C	ENST00000220669	NM_024699.2	245	Ggt/Tgt	0	1	1	UPI0000072F9B	0	NA	ENST00000220669		ENSG00000104231	25858		184	2.935		HGNC	p.G245C		ZFAND1		SNV							ENST00000220669	protein_coding	getma.org/?cm=var&var=hg19,8,82615004,C,A&fts=all		hmmpanther:PTHR14677,hmmpanther:PTHR14677:SF12		G/C		A	medium	752/1798		getma.org/?cm=msa&ty=f&p=ZFAN1_HUMAN&rb=107&re=268&var=G245C	deleterious(0)	Q05BD2_HUMAN,E5RK75_HUMAN,E5RJ74_HUMAN,E5RIH7_HUMAN,E5RHR9_HUMAN,E5RG60_HUMAN,E5RFU1_HUMAN			YES	ZFAND1,missense_variant,p.Gly245Cys,ENST00000220669,NM_024699.2;ZFAND1,missense_variant,p.Gly238Cys,ENST00000523096,NM_001170796.1;ZFAND1,missense_variant,p.Gly138Cys,ENST00000522520,;ZFAND1,missense_variant,p.Gly138Cys,ENST00000521287,;ZFAND1,3_prime_UTR_variant,,ENST00000521895,;ZFAND1,downstream_gene_variant,,ENST00000520635,;ZFAND1,downstream_gene_variant,,ENST00000519523,NM_001170797.1;ZFAND1,downstream_gene_variant,,ENST00000520604,;ZFAND1,downstream_gene_variant,,ENST00000517588,;ZFAND1,downstream_gene_variant,,ENST00000523361,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000519338,;ZFAND1,3_prime_UTR_variant,,ENST00000519464,;ZFAND1,3_prime_UTR_variant,,ENST00000523431,;ZFAND1,3_prime_UTR_variant,,ENST00000522032,;ZFAND1,non_coding_transcript_exon_variant,,ENST00000524305,;							MODERATE	733/807	G245C	ZFAN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000220669		CCDS6232.1			1	
TRMT6	0	LGGM	GRCh37	20	5922598	5922598	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	175	8	.	.	ENST00000203001.2:c.1111G>T	p.Gly371Cys	p.G371C	ENST00000203001	NM_001281467.1	371	Ggt/Tgt	0	1	1	UPI000006D9E4	0	NA	ENST00000203001		ENSG00000089195	20900		183	1.82		HGNC	p.G201C		TRMT6		SNV							ENST00000453074	protein_coding	getma.org/?cm=var&var=hg19,20,5922598,C,A&fts=all		hmmpanther:PTHR12945,PIRSF_domain:PIRSF038170		G/C		A	low	1242/2327		getma.org/?cm=msa&ty=f&p=TRM6_HUMAN&rb=296&re=495&var=G371C	tolerated(0.06)	B4DUV6_HUMAN			YES	TRMT6,missense_variant,p.Gly371Cys,ENST00000203001,NM_001281467.1,NM_015939.4;TRMT6,missense_variant,p.Gly201Cys,ENST00000453074,;TRMT6,splice_region_variant,,ENST00000473131,;TRMT6,non_coding_transcript_exon_variant,,ENST00000466974,;TRMT6,downstream_gene_variant,,ENST00000493972,;							MODERATE	1111/1494	G371C	TRM6_HUMAN			Transcript		possibly_damaging(0.659)	.	ENSP00000203001		CCDS13093.1			1	
MAP9	0	LGGM	GRCh37	4	156289726	156289726	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	146	8	.	.	ENST00000311277.4:c.708+12C>A		*236*	ENST00000311277	NM_001039580.1			0	1	1	UPI000020B618	0		ENST00000311277		ENSG00000164114	26118		154			HGNC	p.T167T		MAP9		SNV							ENST00000379248	protein_coding							T		-/7333				C9JXH8_HUMAN,A2VCT0_HUMAN			YES	MAP9,synonymous_variant,p.=,ENST00000379248,;MAP9,intron_variant,,ENST00000311277,NM_001039580.1;MAP9,intron_variant,,ENST00000515654,;MAP9,intron_variant,,ENST00000433024,;AC097467.2,non_coding_transcript_exon_variant,,ENST00000597831,;AC097467.2,intron_variant,,ENST00000596165,;AC097467.2,downstream_gene_variant,,ENST00000600928,;AC097467.2,downstream_gene_variant,,ENST00000598890,;MAP9,intron_variant,,ENST00000424373,;MAP9,downstream_gene_variant,,ENST00000481250,;							MODIFIER	-/1944		MAP9_HUMAN			Transcript			.	ENSP00000310593		CCDS35493.1			1	
XRN2	0	LGGM	GRCh37	20	21329039	21329039	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	89	8	.	.	ENST00000377191.3:c.1834C>A	p.Pro612Thr	p.P612T	ENST00000377191	NM_012255.3	612	Cca/Aca	0	1	1	UPI0000037D02	0	getma.org/pdb.php?prot=XRN2_HUMAN&from=456&to=655&var=P612T	ENST00000377191		ENSG00000088930	12836		97	0.28		HGNC	p.P558T		XRN2		SNV							ENST00000539513	protein_coding	getma.org/?cm=var&var=hg19,20,21329039,C,A&fts=all		hmmpanther:PTHR12341,PIRSF_domain:PIRSF037239		P/T		A	neutral	1929/3435		getma.org/?cm=msa&ty=f&p=XRN2_HUMAN&rb=456&re=655&var=P612T	tolerated(0.43)	B4DZC3_HUMAN			YES	XRN2,missense_variant,p.Pro612Thr,ENST00000377191,NM_012255.3;XRN2,missense_variant,p.Pro558Thr,ENST00000539513,;XRN2,missense_variant,p.Pro536Thr,ENST00000430571,;							MODERATE	1834/2853	P612T	XRN2_HUMAN			Transcript		benign(0.004)	.	ENSP00000366396		CCDS13144.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33565310	33565310	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	165	8	.	.	ENST00000321505.4:c.1310G>T	p.Trp437Leu	p.W437L	ENST00000321505		437	tGg/tTg	0	1	1	UPI0000E59322	0	NA	ENST00000321505		ENSG00000110427	24836		173	1.95		HGNC	p.W437L		KIAA1549L		SNV							ENST00000265654	protein_coding	getma.org/?cm=var&var=hg19,11,33565310,G,T&fts=all		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		W/L		T	medium	1490/11678		getma.org/?cm=msa&ty=f&p=CK041_HUMAN&rb=362&re=499&var=W437L	tolerated_low_confidence(0.11)				YES	KIAA1549L,missense_variant,p.Trp437Leu,ENST00000321505,;KIAA1549L,missense_variant,p.Trp437Leu,ENST00000389726,NM_012194.2;KIAA1549L,missense_variant,p.Trp437Leu,ENST00000265654,;KIAA1549L,intron_variant,,ENST00000526400,;							MODERATE	1310/5550	W437L	K154L_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000315295		CCDS44565.2			1	
CTB-134H23.2	0	LGGM	GRCh37	16	29063584	29063584	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	176	8	.	.	ENST00000424293.3:c.834G>T	p.Ala278=	p.A278=	ENST00000424293		278	gcG/gcT	0	1	1	UPI00020CDF9A	0		ENST00000424293		ENSG00000196796			184			Clone_based_vega_gene	p.A278A	rs766450961	CTB-134H23.2		SNV				0.000247			ENST00000424293	protein_coding			hmmpanther:PTHR15438,Pfam_domain:PF06409		A		T		887/1350				I3L0F6_HUMAN			YES	CTB-134H23.2,synonymous_variant,p.=,ENST00000424293,;CTB-134H23.3,downstream_gene_variant,,ENST00000567688,;							LOW	834/1297					Transcript			.	ENSP00000399758	1.69E-05				1	
THSD4	0	LGGM	GRCh37	15	71952898	71952898	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	132	8	.	.	ENST00000355327.3:c.1182C>A	p.Ser394=	p.S394=	ENST00000355327		394	tcC/tcA	0	1	1	UPI00001A797D	0		ENST00000355327		ENSG00000187720	25835		140			HGNC	p.S394S		THSD4		SNV							ENST00000355327	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF16		S		A		1316/9200							YES	THSD4,synonymous_variant,p.=,ENST00000355327,;THSD4,synonymous_variant,p.=,ENST00000261862,NM_024817.2;THSD4,synonymous_variant,p.=,ENST00000357769,NM_001286429.1;THSD4,non_coding_transcript_exon_variant,,ENST00000567838,;THSD4,non_coding_transcript_exon_variant,,ENST00000567776,;THSD4,non_coding_transcript_exon_variant,,ENST00000567745,;							LOW	1182/3057		THSD4_HUMAN			Transcript			.	ENSP00000347484		CCDS10238.2			1	
CHD2	0	LGGM	GRCh37	15	93489349	93489349	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	77	8	.	.	ENST00000394196.4:c.1280G>T	p.Trp427Leu	p.W427L	ENST00000394196	NM_001271.3	427	tGg/tTg	0	1	1	UPI0000E8A85C	0	getma.org/pdb.php?prot=CHD2_HUMAN&from=378&to=447&var=W427L	ENST00000394196		ENSG00000173575	1917		85	3.51		HGNC	p.W427L		CHD2		SNV			1				ENST00000557381	protein_coding	getma.org/?cm=var&var=hg19,15,93489349,G,T&fts=all		Gene3D:2.40.50.40,Pfam_domain:PF00385,PROSITE_patterns:PS00598,PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,SMART_domains:SM00298,Superfamily_domains:SSF54160		W/L		T	high	2348/9857		getma.org/?cm=msa&ty=f&p=CHD2_HUMAN&rb=378&re=447&var=W427L	deleterious(0.01)	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,missense_variant,p.Trp427Leu,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Trp427Leu,ENST00000557381,;CHD2,missense_variant,p.Trp427Leu,ENST00000420239,NM_001042572.2;CHD2,missense_variant,p.Trp440Leu,ENST00000536619,;CHD2,non_coding_transcript_exon_variant,,ENST00000555753,;CHD2,upstream_gene_variant,,ENST00000555582,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000309818,;CHD2,downstream_gene_variant,,ENST00000556270,;CHD2,downstream_gene_variant,,ENST00000553323,;							MODERATE	1280/5487	W427L	CHD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377747		CCDS10374.2			1	
OR52E6	0	LGGM	GRCh37	11	5863076	5863076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	169	8	.	.	ENST00000329322.5:c.52G>T	p.Gly18Cys	p.G18C	ENST00000329322	NM_001005167.1	18	Ggt/Tgt	0	1	1	UPI00000015AE	0	NA	ENST00000329322		ENSG00000205409	15215		177	3.515		HGNC	p.G22C	rs773034560	OR52E6		SNV							ENST00000379946	protein_coding	getma.org/?cm=var&var=hg19,11,5863076,C,A&fts=all		hmmpanther:PTHR26450:SF45,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		G/C		A	high	52/970	9.00E-05	getma.org/?cm=msa&ty=f&p=O52E6_HUMAN&rb=1&re=140&var=G18C	deleterious(0)				YES	OR52E6,missense_variant,p.Gly18Cys,ENST00000329322,NM_001005167.1;OR52E6,missense_variant,p.Gly22Cys,ENST00000379946,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	52/942	G18C	O52E6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328878	4.95E-05	CCDS53597.1			1	
NIPBL	0	LGGM	GRCh37	5	36985400	36985400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	160	8	.	.	ENST00000282516.8:c.2118G>T	p.Lys706Asn	p.K706N	ENST00000282516	NM_133433.3	706	aaG/aaT	0	1	1	UPI00003761B5	0	NA	ENST00000282516		ENSG00000164190	28862		168	1.04		HGNC	p.K706N		NIPBL		SNV			1				ENST00000282516	protein_coding	getma.org/?cm=var&var=hg19,5,36985400,G,T&fts=all		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18		K/N		T	low	2617/10435		getma.org/?cm=msa&ty=f&p=NIPBL_HUMAN&rb=700&re=757&var=K706N	deleterious_low_confidence(0.04)	A2RRA7_HUMAN			YES	NIPBL,missense_variant,p.Lys706Asn,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,missense_variant,p.Lys706Asn,ENST00000448238,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;							MODERATE	2118/8415	K706N	NIPBL_HUMAN			Transcript		benign(0.027)	.	ENSP00000282516		CCDS3920.1			1	
DIRC2	0	LGGM	GRCh37	3	122591352	122591352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	136	8	.	.	ENST00000261038.5:c.1229C>A	p.Pro410Gln	p.P410Q	ENST00000261038	NM_032839.2	410	cCa/cAa	0	1	1	UPI0000073CC7	0	NA	ENST00000261038		ENSG00000138463	16628		144	2.485		HGNC	p.P410Q		DIRC2		SNV							ENST00000261038	protein_coding	getma.org/?cm=var&var=hg19,3,122591352,C,A&fts=all		hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF0,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		P/Q		A	medium	1627/3596		getma.org/?cm=msa&ty=f&p=DIRC2_HUMAN&rb=1&re=476&var=P410Q	deleterious(0)				YES	DIRC2,missense_variant,p.Pro410Gln,ENST00000261038,NM_032839.2;DIRC2,3_prime_UTR_variant,,ENST00000477647,;							MODERATE	1229/1437	P410Q	DIRC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261038		CCDS3018.1			1	
CR1	0	LGGM	GRCh37	1	207697013	207697013	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	173	8	.	.	ENST00000367049.4:c.545G>T	p.Arg182Ile	p.R182I	ENST00000367049	NM_000651.4	182	aGa/aTa	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=166&to=232&var=R182I	ENST00000367051		ENSG00000203710	2334		181	1.485		HGNC	p.R182I		CR1		SNV			1				ENST00000534202	protein_coding	getma.org/?cm=var&var=hg19,1,207697013,G,T&fts=all						T	low	-/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=166&re=232&var=R182I		Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Arg182Ile,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Arg182Ile,ENST00000367052,;CR1,missense_variant,p.Arg182Ile,ENST00000367053,;CR1,missense_variant,p.Arg182Ile,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Arg182Ile,ENST00000534202,;CR1,missense_variant,p.Arg158Ile,ENST00000529814,;CR1,intron_variant,,ENST00000367051,;CR1,non_coding_transcript_exon_variant,,ENST00000367050,;CR1,non_coding_transcript_exon_variant,,ENST00000434033,;CR1,intron_variant,,ENST00000450439,;CR1,intron_variant,,ENST00000436595,;							MODIFIER	-/6120	R182I	CR1_HUMAN			Transcript			.	ENSP00000356018					1	
RBFOX2	0	LGGM	GRCh37	22	36142034	36142034	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	91	8	.	.	ENST00000438146.2:c.1247G>T	p.Arg416Met	p.R416M	ENST00000438146	NM_001082578.1	416	aGg/aTg	0	1	1	UPI00015DF7D4	0		ENST00000438146		ENSG00000100320	9906		99			HGNC	p.R322M		RBFOX2		SNV							ENST00000397303	protein_coding			hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF24,Pfam_domain:PF12414,PIRSF_domain:PIRSF037932		R/M		A		1247/1356							YES	RBFOX2,missense_variant,p.Gly329Trp,ENST00000405409,NM_014309.2,NM_001031695.2,NM_001082577.1,NM_001082576.1;RBFOX2,missense_variant,p.Arg345Met,ENST00000449924,;RBFOX2,missense_variant,p.Gly332Trp,ENST00000414461,;RBFOX2,missense_variant,p.Arg323Met,ENST00000262829,;RBFOX2,missense_variant,p.Gly332Trp,ENST00000359369,;RBFOX2,missense_variant,p.Arg416Met,ENST00000438146,NM_001082578.1,NM_001082579.1;RBFOX2,missense_variant,p.Arg322Met,ENST00000397303,;RBFOX2,missense_variant,p.Arg341Met,ENST00000416721,;RBFOX2,missense_variant,p.Arg195Met,ENST00000495377,;RBFOX2,non_coding_transcript_exon_variant,,ENST00000463509,;							MODERATE	1247/1356		RFOX2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000413035		CCDS43013.1			1	
XPO7	0	LGGM	GRCh37	8	21839313	21839313	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	176	8	.	.	ENST00000252512.9:c.1029G>T	p.Leu343=	p.L343=	ENST00000252512	NM_015024.4	343	ctG/ctT	0	1	1	UPI0000134559	0		ENST00000252512		ENSG00000130227	14108		184			HGNC	p.L352L		XPO7		SNV							ENST00000434536	protein_coding			hmmpanther:PTHR12596,hmmpanther:PTHR12596:SF7		L		T		1129/4861				E5RIW1_HUMAN,B4DSP8_HUMAN			YES	XPO7,synonymous_variant,p.=,ENST00000434536,;XPO7,synonymous_variant,p.=,ENST00000252512,NM_015024.4;XPO7,synonymous_variant,p.=,ENST00000433566,;							LOW	1029/3264		XPO7_HUMAN			Transcript			.	ENSP00000252512		CCDS47818.1			1	
STT3A	0	LGGM	GRCh37	11	125484087	125484087	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	138	8	.	.	ENST00000392708.4:c.1660C>A	p.Arg554=	p.R554=	ENST00000392708	NM_001278503.1	554	Cga/Aga	0	1	1	UPI0000071627	0		ENST00000392708		ENSG00000134910	6172		146			HGNC	p.R554R		STT3A		SNV			1				ENST00000529196	protein_coding			hmmpanther:PTHR13872:SF21,hmmpanther:PTHR13872		R		A		1819/4558				E9PNQ1_HUMAN,E9PN73_HUMAN,E9PIJ8_HUMAN,E9PI32_HUMAN			YES	STT3A,synonymous_variant,p.=,ENST00000392708,NM_001278503.1,NM_152713.4,NM_001278504.1;STT3A,synonymous_variant,p.=,ENST00000529196,;STT3A,synonymous_variant,p.=,ENST00000531491,;STT3A,downstream_gene_variant,,ENST00000526726,;STT3A,upstream_gene_variant,,ENST00000526364,;STT3A,downstream_gene_variant,,ENST00000531001,;STT3A,non_coding_transcript_exon_variant,,ENST00000525946,;STT3A,downstream_gene_variant,,ENST00000534472,;STT3A,downstream_gene_variant,,ENST00000531599,;STT3A,downstream_gene_variant,,ENST00000524639,;							LOW	1660/2118		STT3A_HUMAN			Transcript			.	ENSP00000376472		CCDS8458.1			1	
KIR2DL1	0	LGGM	GRCh37	19	55286646	55286646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	114	8	.	.	ENST00000336077.6:c.400C>A	p.Gln134Lys	p.Q134K	ENST00000336077	NM_014218.2	134	Cag/Aag	0	1	1	UPI00001195F7	0	getma.org/pdb.php?prot=KI2S1_HUMAN&from=103&to=141&var=Q134K	ENST00000336077		ENSG00000125498	6329		122	3.26		HGNC	p.Q134K		KIR2DL1		SNV							ENST00000336077	protein_coding	getma.org/?cm=var&var=hg19,19,55286646,C,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/K		A	medium	440/1596		getma.org/?cm=msa&ty=f&p=KI2S1_HUMAN&rb=103&re=141&var=Q134K	deleterious(0.01)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN			YES	KIR2DL1,missense_variant,p.Gln134Lys,ENST00000336077,NM_014218.2;KIR2DL1,missense_variant,p.Gln134Lys,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,;							MODERATE	400/1047	Q134K	KI2L1_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000336769		CCDS12904.1			1	
TRUB1	0	LGGM	GRCh37	10	116735023	116735023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	102	8	.	.	ENST00000298746.3:c.935C>A	p.Pro312Gln	p.P312Q	ENST00000298746	NM_139169.4	312	cCa/cAa	0	1	1	UPI000006DEBE	0	NA	ENST00000298746		ENSG00000165832	16060		110	2.68		HGNC	p.P312Q		TRUB1		SNV							ENST00000298746	protein_coding	getma.org/?cm=var&var=hg19,10,116735023,C,A&fts=all		HAMAP:MF_01080,hmmpanther:PTHR13767:SF2,hmmpanther:PTHR13767		P/Q		A	medium	996/3403		getma.org/?cm=msa&ty=f&p=TRUB1_HUMAN&rb=256&re=349&var=P312Q	deleterious(0.03)	B4DZ90_HUMAN,B3KWQ1_HUMAN			YES	TRUB1,missense_variant,p.Pro312Gln,ENST00000298746,NM_139169.4;							MODERATE	935/1050	P312Q	TRUB1_HUMAN			Transcript		benign(0.02)	.	ENSP00000298746		CCDS7591.1			1	
SKIL	0	LGGM	GRCh37	3	170102385	170102385	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	127	8	.	.	ENST00000458537.3:c.1261C>A	p.Gln421Lys	p.Q421K	ENST00000458537	NM_001248008.1	421	Cag/Aag	0	1		UPI000020A79D	0	NA	ENST00000259119		ENSG00000136603	10897		135	1.7		HGNC	p.Q421K		SKIL		SNV							ENST00000458537	protein_coding	getma.org/?cm=var&var=hg19,3,170102385,C,A&fts=all		hmmpanther:PTHR10005,hmmpanther:PTHR10005:SF3		Q/K		A	low	1932/3057		getma.org/?cm=msa&ty=f&p=SKIL_HUMAN&rb=357&re=539&var=Q421K	tolerated(0.23)	C9J8R9_HUMAN				SKIL,missense_variant,p.Gln421Lys,ENST00000458537,NM_001248008.1,NM_001145097.2,NM_005414.4;SKIL,missense_variant,p.Gln421Lys,ENST00000259119,;SKIL,missense_variant,p.Gln401Lys,ENST00000426052,NM_001145098.2;SKIL,missense_variant,p.Gln421Lys,ENST00000413427,;SKIL,non_coding_transcript_exon_variant,,ENST00000490894,;SKIL,intron_variant,,ENST00000470571,;							MODERATE	1261/2055	Q421K	SKIL_HUMAN			Transcript		benign(0.04)	.	ENSP00000259119		CCDS33890.1			1	
NCKAP5	0	LGGM	GRCh37	2	133539846	133539846	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	181	8	.	.	ENST00000409261.1:c.4538G>T	p.Arg1513Leu	p.R1513L	ENST00000409261	NM_207363.2	1513	cGg/cTg	0	1	1	UPI0000E07A3F	0	NA	ENST00000409261		ENSG00000176771	29847		189	1.04		HGNC	p.R1513L		NCKAP5		SNV							ENST00000317721	protein_coding	getma.org/?cm=var&var=hg19,2,133539846,C,A&fts=all		Pfam_domain:PF15246,hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0		R/L		A	low	4912/7592		getma.org/?cm=msa&ty=f&p=NCKP5_HUMAN&rb=241&re=1908&var=R1513L	deleterious(0)	C9JYL7_HUMAN			YES	NCKAP5,missense_variant,p.Arg1513Leu,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Arg1513Leu,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;							MODERATE	4538/5730	R1513L	NCKP5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000387128		CCDS46418.1			1	
TNIK	0	LGGM	GRCh37	3	170819246	170819246	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	184	8	.	.	ENST00000436636.2:c.2583C>A	p.Pro861=	p.P861=	ENST00000436636	NM_015028.2	861	ccC/ccA	0	1	1	UPI000003ABDF	0		ENST00000436636		ENSG00000154310	30765		192			HGNC	p.P861P		TNIK		SNV							ENST00000436636	protein_coding			hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361		P		T		2928/6970							YES	TNIK,synonymous_variant,p.=,ENST00000436636,NM_015028.2;TNIK,synonymous_variant,p.=,ENST00000369326,NM_001161560.1,NM_001161566.1,NM_001161562.1,NM_001161561.1;TNIK,synonymous_variant,p.=,ENST00000538048,NM_001161564.1,NM_001161563.1;TNIK,synonymous_variant,p.=,ENST00000341852,NM_001161565.1;TNIK,synonymous_variant,p.=,ENST00000284483,;TNIK,synonymous_variant,p.=,ENST00000357327,;TNIK,synonymous_variant,p.=,ENST00000470834,;TNIK,synonymous_variant,p.=,ENST00000488470,;TNIK,synonymous_variant,p.=,ENST00000460047,;TNIK,synonymous_variant,p.=,ENST00000475336,;TNIK,non_coding_transcript_exon_variant,,ENST00000496492,;							LOW	2583/4083		TNIK_HUMAN			Transcript			.	ENSP00000399511		CCDS46956.1			1	
C20orf26	0	LGGM	GRCh37	20	20056175	20056175	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	88	8	.	.	ENST00000245957.5:c.482C>A	p.Pro161Gln	p.P161Q	ENST00000245957	NM_015585.3	161	cCg/cAg	0	1	1	UPI0000206AE4	0	NA	ENST00000245957		ENSG00000089101	15872		96	1.905		HGNC	p.P161Q		C20orf26		SNV							ENST00000245957	protein_coding	getma.org/?cm=var&var=hg19,20,20056175,C,A&fts=all		hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178		P/Q		A	medium	558/4082		getma.org/?cm=msa&ty=f&p=CT026_HUMAN&rb=1&re=1234&var=P161Q	tolerated(0.11)	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN			YES	C20orf26,missense_variant,p.Pro161Gln,ENST00000245957,NM_015585.3;C20orf26,missense_variant,p.Pro161Gln,ENST00000377306,;C20orf26,missense_variant,p.Pro161Gln,ENST00000451767,NM_001167816.1;C20orf26,missense_variant,p.Pro115Gln,ENST00000340348,;C20orf26,missense_variant,p.Pro161Gln,ENST00000377303,;C20orf26,missense_variant,p.Pro57Gln,ENST00000472660,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,downstream_gene_variant,,ENST00000475466,;C20orf26,downstream_gene_variant,,ENST00000494029,;							MODERATE	482/3714	P161Q	CT026_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000245957		CCDS33447.1			1	
ATP5C1	0	LGGM	GRCh37	10	7842041	7842041	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	94	8	.	.	ENST00000356708.7:c.624C>A	p.Thr208=	p.T208=	ENST00000356708	NM_001001973.1	208	acC/acA	0	1	1	UPI0000126574	0		ENST00000356708		ENSG00000165629	833		102			HGNC	p.T161T	rs767033195	ATP5C1	6.06E-05	SNV							ENST00000541227	protein_coding			Pfam_domain:PF00231,hmmpanther:PTHR11693,hmmpanther:PTHR11693:SF22,Superfamily_domains:SSF52943,TIGRFAM_domain:TIGR01146		T		A		703/1163				Q8TAS0_HUMAN,B4DL14_HUMAN,B4DFE6_HUMAN			YES	ATP5C1,synonymous_variant,p.=,ENST00000356708,NM_001001973.1;ATP5C1,synonymous_variant,p.=,ENST00000335698,NM_005174.2;ATP5C1,synonymous_variant,p.=,ENST00000541227,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000493053,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000473809,;ATP5C1,intron_variant,,ENST00000460820,;ATP5C1,intron_variant,,ENST00000465936,;ATP5C1,downstream_gene_variant,,ENST00000462760,;ATP5C1,upstream_gene_variant,,ENST00000480528,;ATP5C1,downstream_gene_variant,,ENST00000460362,;ATP5C1,downstream_gene_variant,,ENST00000472202,;							LOW	624/897		ATPG_HUMAN			Transcript			.	ENSP00000349142	8.24E-06	CCDS31142.1			1	
ANKRD44	0	LGGM	GRCh37	2	197964635	197964635	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	157	8	.	.	ENST00000409919.1:c.1005G>T	p.Val335=	p.V335=	ENST00000409919	NM_153697.2	335	gtG/gtT	0	1		UPI0001AE772B	0		ENST00000282272		ENSG00000065413	25259		165			HGNC	p.V310V		ANKRD44		SNV							ENST00000337207	protein_coding			Gene3D:1.25.40.20,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,Superfamily_domains:SSF48403		V		A		981/2958				Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,synonymous_variant,p.=,ENST00000328737,;ANKRD44,synonymous_variant,p.=,ENST00000450567,;ANKRD44,synonymous_variant,p.=,ENST00000337207,;ANKRD44,synonymous_variant,p.=,ENST00000282272,NM_001195144.1;ANKRD44,synonymous_variant,p.=,ENST00000424317,;ANKRD44,synonymous_variant,p.=,ENST00000409153,;ANKRD44,synonymous_variant,p.=,ENST00000539527,;ANKRD44,synonymous_variant,p.=,ENST00000409919,NM_153697.2;ANKRD44,synonymous_variant,p.=,ENST00000422886,;ANKRD44,non_coding_transcript_exon_variant,,ENST00000473081,;							LOW	981/2958					Transcript			.	ENSP00000282272					1	
BMAL2	0	LGGM	GRCh37	12	27553667	27553667	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	64	8	.	.	ENST00000266503.5:c.1120C>A	p.Arg374=	p.R374=	ENST00000266503		374	Cgg/Agg	0	1	1	UPI0000073439	0		ENST00000266503		ENSG00000029153	18984		72			HGNC	p.R337R		ARNTL2		SNV							ENST00000546179	protein_coding			Gene3D:3.30.450.20,Pfam_domain:PF14598,Prints_domain:PR00785,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF48,SMART_domains:SM00091,Superfamily_domains:SSF55785,TIGRFAM_domain:TIGR00229		R		A		1138/2291							YES	ARNTL2,synonymous_variant,p.=,ENST00000544915,NM_020183.4;ARNTL2,synonymous_variant,p.=,ENST00000266503,;ARNTL2,synonymous_variant,p.=,ENST00000457040,;ARNTL2,synonymous_variant,p.=,ENST00000395901,NM_001248003.1,NM_001248004.1;ARNTL2,synonymous_variant,p.=,ENST00000311001,NM_001248002.1;ARNTL2,synonymous_variant,p.=,ENST00000546179,NM_001248005.1;ARNTL2,synonymous_variant,p.=,ENST00000261178,;ARNTL2,synonymous_variant,p.=,ENST00000542388,;RP11-165P7.1,intron_variant,,ENST00000500498,;							LOW	1120/1911		BMAL2_HUMAN			Transcript			.	ENSP00000266503		CCDS8712.1			1	
FDXACB1	0	LGGM	GRCh37	11	111747261	111747261	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	148	8	.	.	ENST00000260257.4:c.636G>T	p.Leu212=	p.L212=	ENST00000260257	NM_138378.2	212	ctG/ctT	0	1	1	UPI00001C1EEE	0		ENST00000260257		ENSG00000255561	25110		156			HGNC	p.L123L		FDXACB1		SNV							ENST00000528274	protein_coding			hmmpanther:PTHR11538,hmmpanther:PTHR11538:SF26		L		A		684/2789				B4DUU2_HUMAN			YES	FDXACB1,synonymous_variant,p.=,ENST00000260257,NM_138378.2;FDXACB1,synonymous_variant,p.=,ENST00000542429,;FDXACB1,synonymous_variant,p.=,ENST00000528274,;C11orf1,upstream_gene_variant,,ENST00000260276,NM_022761.2;C11orf1,upstream_gene_variant,,ENST00000529270,;C11orf1,upstream_gene_variant,,ENST00000530214,;C11orf1,upstream_gene_variant,,ENST00000528125,;C11orf1,upstream_gene_variant,,ENST00000530799,;ALG9,non_coding_transcript_exon_variant,,ENST00000527377,;ALG9,non_coding_transcript_exon_variant,,ENST00000526587,;ALG9,upstream_gene_variant,,ENST00000527228,;ALG9,upstream_gene_variant,,ENST00000532374,;ALG9,upstream_gene_variant,,ENST00000527883,;ALG9,upstream_gene_variant,,ENST00000524386,;ALG9,upstream_gene_variant,,ENST00000529754,;ALG9,synonymous_variant,p.=,ENST00000524880,;FDXACB1,3_prime_UTR_variant,,ENST00000531487,;							LOW	636/1875		FDXA1_HUMAN			Transcript			.	ENSP00000260257		CCDS44729.1			1	
CHD9	0	LGGM	GRCh37	16	53307641	53307641	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	114	8	.	.	ENST00000566029.1:c.4821C>A	p.Pro1607=	p.P1607=	ENST00000566029		1607	ccC/ccA	0	1		UPI0000E02AC8	0		ENST00000398510		ENSG00000177200	25701		122			HGNC	p.P1607P		CHD9		SNV							ENST00000447540	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48		P		A		4908/11337				H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,synonymous_variant,p.=,ENST00000566029,;CHD9,synonymous_variant,p.=,ENST00000564845,;CHD9,synonymous_variant,p.=,ENST00000447540,NM_025134.4;CHD9,synonymous_variant,p.=,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;							LOW	4821/8694		CHD9_HUMAN			Transcript			.	ENSP00000381522					1	
KNTC1	0	LGGM	GRCh37	12	123109191	123109191	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	179	8	.	.	ENST00000333479.7:c.6562G>T	p.Gly2188Trp	p.G2188W	ENST00000333479	NM_014708.4	2188	Ggg/Tgg	0	1	1	UPI0000047FD6	0	NA	ENST00000333479		ENSG00000184445	17255		187	1.04		HGNC	p.G109W		KNTC1		SNV							ENST00000436959	protein_coding	getma.org/?cm=var&var=hg19,12,123109191,G,T&fts=all		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688		G/W		T	low	6739/6975		getma.org/?cm=msa&ty=f&p=KNTC1_HUMAN&rb=2131&re=2209&var=G2188W	deleterious(0)	J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,missense_variant,p.Gly2188Trp,ENST00000333479,NM_014708.4;KNTC1,missense_variant,p.Gly1113Trp,ENST00000450485,;KNTC1,missense_variant,p.Gly109Trp,ENST00000436959,;KNTC1,missense_variant,p.Gly109Trp,ENST00000534995,;KNTC1,3_prime_UTR_variant,,ENST00000537348,;HCAR1,intron_variant,,ENST00000356987,;KNTC1,downstream_gene_variant,,ENST00000541427,;							MODERATE	6562/6630	G2188W	KNTC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328236		CCDS45002.1			1	
ZDHHC17	0	LGGM	GRCh37	12	77244754	77244754	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	136	8	.	.	ENST00000426126.2:c.1888C>A	p.Gln630Lys	p.Q630K	ENST00000426126	NM_015336.2	630	Cag/Aag	0	1	1	UPI0000051F55	0	NA	ENST00000426126		ENSG00000186908	18412		144	1.65		HGNC	p.Q630K		ZDHHC17		SNV							ENST00000426126	protein_coding	getma.org/?cm=var&var=hg19,12,77244754,C,A&fts=all		hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18		Q/K		A	low	2537/5259		getma.org/?cm=msa&ty=f&p=ZDH17_HUMAN&rb=571&re=632&var=Q630K	tolerated_low_confidence(0.14)	A8KA01_HUMAN			YES	ZDHHC17,missense_variant,p.Gln630Lys,ENST00000426126,NM_015336.2;ZDHHC17,missense_variant,p.Gln630Lys,ENST00000334822,;ZDHHC17,downstream_gene_variant,,ENST00000550789,;ZDHHC17,downstream_gene_variant,,ENST00000553091,;ZDHHC17,non_coding_transcript_exon_variant,,ENST00000550244,;ZDHHC17,downstream_gene_variant,,ENST00000552693,;ZDHHC17,downstream_gene_variant,,ENST00000547673,;							MODERATE	1888/1899	Q630K	ZDH17_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000403397		CCDS44946.1			1	
TTN	0	LGGM	GRCh37	2	179589023	179589023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	189	8	.	.	ENST00000589042.1:c.21079G>T	p.Gly7027Trp	p.G7027W	ENST00000589042	NM_001267550.1	7027	Ggg/Tgg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=6631&to=6720&var=G6710W	ENST00000591111		ENSG00000155657	12403		197	3.805		HGNC	p.G6710W		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179589023,C,A&fts=all		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		G/W		A	high	20353/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=6631&re=6720&var=G6710W		C9JQJ2_HUMAN				TTN,missense_variant,p.Gly7027Trp,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gly6710Trp,ENST00000591111,;TTN,missense_variant,p.Gly5783Trp,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,;							MODERATE	20128/103053	G6710W	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ZNF234	0	LGGM	GRCh37	19	44660713	44660713	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	182	8	.	.	ENST00000426739.2:c.544G>T	p.Gly182Ter	p.G182*	ENST00000426739	NM_006630.2	182	Gga/Tga	0	1	1	UPI0000070C95	0	NA	ENST00000426739		ENSG00000263002	13027	0.000432	190	0		HGNC	p.G182X	rs763297819	ZNF234		SNV							ENST00000592437	protein_coding	getma.org/?cm=var&var=hg19,19,44660713,G,T&fts=all		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		G/*		T	NA	802/3245		NA		Q86WM3_HUMAN,Q86WM2_HUMAN			YES	ZNF234,stop_gained,p.Gly182Ter,ENST00000426739,NM_006630.2;ZNF234,stop_gained,p.Gly182Ter,ENST00000592437,NM_001144824.1;							HIGH	544/2103	G182*	ZN234_HUMAN			Transcript			common_variant	ENSP00000400878	4.12E-05	CCDS46101.1			1	
VPS8	0	LGGM	GRCh37	3	184769688	184769688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	125	8	.	.	ENST00000437079.3:c.4162C>A	p.Gln1388Lys	p.Q1388K	ENST00000437079	NM_001009921.2	1388	Cag/Aag	0	1	1	UPI0000160BDC	0	NA	ENST00000437079		ENSG00000156931	29122		133	0.805		HGNC	p.Q1388K		VPS8		SNV							ENST00000287546	protein_coding	getma.org/?cm=var&var=hg19,3,184769688,C,A&fts=all		hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF19		Q/K		A	low	4333/5047		getma.org/?cm=msa&ty=f&p=VPS8_HUMAN&rb=1197&re=1396&var=Q1388K	tolerated(0.72)	C9JPI1_HUMAN,C9JKL0_HUMAN,C9JIA0_HUMAN			YES	VPS8,missense_variant,p.Gln1388Lys,ENST00000287546,NM_015303.3;VPS8,missense_variant,p.Gln1388Lys,ENST00000437079,NM_001009921.2;VPS8,missense_variant,p.Gln1386Lys,ENST00000436792,;VPS8,missense_variant,p.Gln1296Lys,ENST00000446204,;VPS8,non_coding_transcript_exon_variant,,ENST00000492449,;							MODERATE	4162/4287	Q1388K	VPS8_HUMAN			Transcript		benign(0.001)	.	ENSP00000397879		CCDS46971.1			1	
COL21A1	0	LGGM	GRCh37	6	55925808	55925808	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	109	8	.	.	ENST00000244728.5:c.2233C>A	p.Arg745=	p.R745=	ENST00000244728	NM_030820.3	745	Cga/Aga	0	1	1	UPI0000071DFE	0		ENST00000244728		ENSG00000124749	17025		117			HGNC	p.R145R		COL21A1		SNV							ENST00000370808	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023		R		T		2631/4339				A6PVD9_HUMAN			YES	COL21A1,synonymous_variant,p.=,ENST00000244728,NM_030820.3;COL21A1,synonymous_variant,p.=,ENST00000535941,;COL21A1,synonymous_variant,p.=,ENST00000370819,;COL21A1,synonymous_variant,p.=,ENST00000370808,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467216,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000482933,;							LOW	2233/2874		COLA1_HUMAN			Transcript			.	ENSP00000244728		CCDS55025.1			1	
GRSF1	0	LGGM	GRCh37	4	71698865	71698865	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	152	8	.	.	ENST00000254799.6:c.640C>A	p.Arg214Ser	p.R214S	ENST00000254799	NM_002092.3	214	Cgc/Agc	0	1	1	UPI0001838834	0	getma.org/pdb.php?prot=GRSF1_HUMAN&from=152&to=223&var=R214S	ENST00000254799		ENSG00000132463	4610		160	2.3		HGNC	p.R52S		GRSF1		SNV							ENST00000502323	protein_coding	getma.org/?cm=var&var=hg19,4,71698865,G,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF26,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/S		T	medium	758/6666		getma.org/?cm=msa&ty=f&p=GRSF1_HUMAN&rb=152&re=223&var=R214S	deleterious(0.03)				YES	GRSF1,missense_variant,p.Arg214Ser,ENST00000254799,NM_002092.3;GRSF1,missense_variant,p.Arg52Ser,ENST00000439371,NM_001098477.1;GRSF1,missense_variant,p.Arg187Ser,ENST00000499044,;GRSF1,missense_variant,p.Arg52Ser,ENST00000502323,;GRSF1,missense_variant,p.Arg151Ser,ENST00000514161,;GRSF1,missense_variant,p.Arg96Ser,ENST00000545193,;GRSF1,intron_variant,,ENST00000508091,;GRSF1,missense_variant,p.Arg24Ser,ENST00000506453,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;							MODERATE	640/1443	R214S	GRSF1_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000254799		CCDS47069.1			1	
PRUNE2	0	LGGM	GRCh37	9	79325015	79325015	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	109	8	.	.	ENST00000376718.3:c.2175G>T	p.Leu725=	p.L725=	ENST00000376718	NM_015225.2	725	ctG/ctT	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		117			HGNC	p.L725L		PRUNE2		SNV							ENST00000376718	protein_coding			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		L		A		2299/12584							YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;							LOW	2175/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
DST	0	LGGM	GRCh37	6	56468699	56468699	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	137	8	.	.	ENST00000244364.6:c.3673-3680C>A		*1225*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		145			HGNC	p.P3543Q		DST		SNV			1				ENST00000370754	protein_coding							T		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Pro3543Gln,ENST00000370754,;DST,missense_variant,p.Pro3365Gln,ENST00000370769,;DST,missense_variant,p.Pro3365Gln,ENST00000312431,;DST,missense_variant,p.Pro3039Gln,ENST00000446842,;DST,missense_variant,p.Pro3365Gln,ENST00000361203,;DST,missense_variant,p.Pro3039Gln,ENST00000439203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
MGA	0	LGGM	GRCh37	15	42028461	42028461	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	117	8	.	.	ENST00000219905.7:c.3999C>A	p.Thr1333=	p.T1333=	ENST00000219905	NM_001164273.1	1333	acC/acA	0	1	1	UPI0001B2337E	0		ENST00000219905		ENSG00000174197	14010		125			HGNC	p.T1333T		MGA		SNV							ENST00000570161	protein_coding			hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32		T		A		4180/12042				H3BTF4_HUMAN,H3BP52_HUMAN			YES	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,;							LOW	3999/9198		MGAP_HUMAN			Transcript			.	ENSP00000219905		CCDS55959.1			1	
FLG2	0	LGGM	GRCh37	1	152324458	152324458	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	95	8	.	.	ENST00000388718.5:c.5804C>A	p.Pro1935His	p.P1935H	ENST00000388718	NM_001014342.2	1935	cCt/cAt	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		103	0.345		HGNC	p.P1935H		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152324458,G,T&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		P/H		T	neutral	5877/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=P1935H					YES	FLG2,missense_variant,p.Pro1935His,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	5804/7176	P1935H	FILA2_HUMAN			Transcript		benign(0.012)	.	ENSP00000373370		CCDS30861.1			1	
NDUFS3	0	LGGM	GRCh37	11	47603937	47603937	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	142	8	.	.	ENST00000263774.4:c.544C>A	p.Pro182Thr	p.P182T	ENST00000263774	NM_004551.2	182	Cct/Act	0	1	1	UPI0000130930	0	getma.org/pdb.php?prot=NDUS3_HUMAN&from=95&to=200&var=P182T	ENST00000263774		ENSG00000213619	7710		150	3.465		HGNC	p.P182T		NDUFS3		SNV			1				ENST00000263774	protein_coding	getma.org/?cm=var&var=hg19,11,47603937,C,A&fts=all		HAMAP:MF_01357,hmmpanther:PTHR10884,hmmpanther:PTHR10884:SF6,PROSITE_patterns:PS00542,Pfam_domain:PF00329,TIGRFAM_domain:TIGR01961,Superfamily_domains:0052776		P/T		A	medium	626/958		getma.org/?cm=msa&ty=f&p=NDUS3_HUMAN&rb=95&re=200&var=P182T	deleterious(0.01)	Q9UF24_HUMAN			YES	NDUFS3,missense_variant,p.Pro182Thr,ENST00000263774,NM_004551.2;KBTBD4,upstream_gene_variant,,ENST00000533290,;KBTBD4,upstream_gene_variant,,ENST00000395288,NM_016506.5;KBTBD4,upstream_gene_variant,,ENST00000526005,;KBTBD4,upstream_gene_variant,,ENST00000430070,NM_018095.4;FAM180B,upstream_gene_variant,,ENST00000356737,;FAM180B,upstream_gene_variant,,ENST00000538490,NM_001164379.1;NDUFS3,downstream_gene_variant,,ENST00000534716,;KBTBD4,upstream_gene_variant,,ENST00000525720,;KBTBD4,upstream_gene_variant,,ENST00000529499,;KBTBD4,upstream_gene_variant,,ENST00000531067,;NDUFS3,downstream_gene_variant,,ENST00000534208,;NDUFS3,downstream_gene_variant,,ENST00000528192,;NDUFS3,downstream_gene_variant,,ENST00000529276,;KBTBD4,downstream_gene_variant,,ENST00000450908,;KBTBD4,upstream_gene_variant,,ENST00000534239,;KBTBD4,upstream_gene_variant,,ENST00000529946,;NDUFS3,downstream_gene_variant,,ENST00000530295,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000533507,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000525212,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000527178,;NDUFS3,downstream_gene_variant,,ENST00000531351,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000525378,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000524568,;KBTBD4,upstream_gene_variant,,ENST00000530668,;NDUFS3,downstream_gene_variant,,ENST00000533105,;							MODERATE	544/795	P182T	NDUS3_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000263774		CCDS7941.1			1	
PARD3	0	LGGM	GRCh37	10	34663812	34663812	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	160	9	.	.	ENST00000374789.3:c.1658C>A	p.Pro553Gln	p.P553Q	ENST00000374789	NM_019619.3	553	cCa/cAa	0	1	1	UPI0000073A9F	0	NA	ENST00000374789		ENSG00000148498	16051		169	2.05		HGNC	p.P509Q		PARD3		SNV							ENST00000374790	protein_coding	getma.org/?cm=var&var=hg19,10,34663812,G,T&fts=all		Gene3D:2.30.42.10,hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10		P/Q		T	medium	1984/6005		getma.org/?cm=msa&ty=f&p=PARD3_HUMAN&rb=546&re=589&var=P553Q	deleterious(0)				YES	PARD3,missense_variant,p.Pro553Gln,ENST00000374789,NM_019619.3;PARD3,missense_variant,p.Pro553Gln,ENST00000374788,NM_001184785.1;PARD3,missense_variant,p.Pro553Gln,ENST00000545693,NM_001184786.1;PARD3,missense_variant,p.Pro553Gln,ENST00000346874,NM_001184787.1;PARD3,missense_variant,p.Pro553Gln,ENST00000350537,NM_001184788.1,NM_001184789.1;PARD3,missense_variant,p.Pro509Gln,ENST00000374790,;PARD3,missense_variant,p.Pro509Gln,ENST00000545260,NM_001184790.1;PARD3,missense_variant,p.Pro509Gln,ENST00000374794,NM_001184791.1;PARD3,missense_variant,p.Pro553Gln,ENST00000340077,NM_001184792.1;PARD3,missense_variant,p.Pro553Gln,ENST00000374773,NM_001184793.1;PARD3,missense_variant,p.Pro553Gln,ENST00000374776,NM_001184794.1;PARD3,missense_variant,p.Pro283Gln,ENST00000544292,;PARD3,upstream_gene_variant,,ENST00000374768,;							MODERATE	1658/4071	P553Q	PARD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363921		CCDS7178.1			1	
APC	0	LGGM	GRCh37	5	112176077	112176077	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	196	9	.	.	ENST00000257430.4:c.4786C>A	p.Gln1596Lys	p.Q1596K	ENST00000257430	NM_000038.5	1596	Cag/Aag	0	1		UPI000013CF60	0	NA	ENST00000257430		ENSG00000134982	583		205	0.55		HGNC	p.Q1596K		APC		SNV			1				ENST00000457016	protein_coding	getma.org/?cm=var&var=hg19,5,112176077,C,A&fts=all		hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11		Q/K		A	neutral	4842/10701		getma.org/?cm=msa&ty=f&p=APC_HUMAN&rb=1590&re=1635&var=Q1596K		Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN				APC,missense_variant,p.Gln1596Lys,ENST00000457016,;APC,missense_variant,p.Gln1596Lys,ENST00000257430,NM_000038.5;APC,missense_variant,p.Gln1596Lys,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,;							MODERATE	4786/8532	Q1596K	APC_HUMAN			Transcript		benign(0.335)	.	ENSP00000257430		CCDS4107.1			1	
WWC2	0	LGGM	GRCh37	4	184190242	184190242	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	235	9	.	.	ENST00000403733.3:c.2326C>A	p.Gln776Lys	p.Q776K	ENST00000403733	NM_024949.5	776	Caa/Aaa	0	1	1	UPI000022C4C2	0	getma.org/pdb.php?prot=WWC2_HUMAN&from=715&to=804&var=Q776K	ENST00000403733		ENSG00000151718	24148		244	1.61		HGNC	p.Q678K		WWC2		SNV							ENST00000378925	protein_coding	getma.org/?cm=var&var=hg19,4,184190242,C,A&fts=all		hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF26,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		Q/K		A	low	2525/8826		getma.org/?cm=msa&ty=f&p=WWC2_HUMAN&rb=715&re=804&var=Q776K	tolerated(0.21)				YES	WWC2,missense_variant,p.Gln776Lys,ENST00000403733,NM_024949.5;WWC2,missense_variant,p.Gln776Lys,ENST00000448232,;WWC2,missense_variant,p.Gln458Lys,ENST00000504005,;WWC2,missense_variant,p.Gln727Lys,ENST00000513834,;WWC2,missense_variant,p.Gln678Lys,ENST00000378925,;WWC2,non_coding_transcript_exon_variant,,ENST00000506225,;WWC2,missense_variant,p.Gln678Lys,ENST00000438543,;WWC2,3_prime_UTR_variant,,ENST00000427431,;WWC2,upstream_gene_variant,,ENST00000515284,;							MODERATE	2326/3579	Q776K	WWC2_HUMAN			Transcript		benign(0.271)	.	ENSP00000384222		CCDS34109.2			1	
CR1	0	LGGM	GRCh37	1	207789980	207789980	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	149	9	.	.	ENST00000367049.4:c.6722G>T	p.Gly2241Val	p.G2241V	ENST00000367049	NM_000651.4	2241	gGa/gTa	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1774&to=1840&var=G1791V	ENST00000367051		ENSG00000203710	2334		158	1.695		HGNC	p.G1791V		CR1		SNV			1				ENST00000400960	protein_coding	getma.org/?cm=var&var=hg19,1,207789980,G,T&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		G/V		T	low	5483/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1774&re=1840&var=G1791V	deleterious(0.04)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Gly2241Val,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Gly1791Val,ENST00000367053,;CR1,missense_variant,p.Gly1791Val,ENST00000367052,;CR1,missense_variant,p.Gly1791Val,ENST00000367051,;CR1,missense_variant,p.Gly1791Val,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Gly414Val,ENST00000529814,;							MODERATE	5372/6120	G1791V	CR1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000356018					1	
ADAMTS20	0	LGGM	GRCh37	12	43777681	43777681	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	159	9	.	.	ENST00000389420.3:c.4552C>A	p.Arg1518=	p.R1518=	ENST00000389420	NM_025003.3	1518	Cga/Aga	0	1	1	UPI00004565F4	0		ENST00000389420		ENSG00000173157	17178		168			HGNC	p.R1518R		ADAMTS20		SNV							ENST00000389420	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		R		T		4552/6076							YES	ADAMTS20,synonymous_variant,p.=,ENST00000389420,NM_025003.3;							LOW	4552/5733		ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
CEP170	0	LGGM	GRCh37	1	243303284	243303284	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	118	9	.	.	ENST00000366542.1:c.4185C>A	p.Pro1395=	p.P1395=	ENST00000366542	NM_014812.2	1395	ccC/ccA	0	1	1	UPI0000470238	0		ENST00000366542		ENSG00000143702	28920		127			HGNC	p.P104P		CEP170		SNV							ENST00000464936	protein_coding			Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		P		T		4237/6828				Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	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,synonymous_variant,p.=,ENST00000481987,;CEP170,synonymous_variant,p.=,ENST00000490813,;CEP170,synonymous_variant,p.=,ENST00000413359,;CEP170,synonymous_variant,p.=,ENST00000464936,;CEP170,downstream_gene_variant,,ENST00000492145,;RP11-261C10.5,non_coding_transcript_exon_variant,,ENST00000439562,;CEP170,non_coding_transcript_exon_variant,,ENST00000468254,;CEP170,non_coding_transcript_exon_variant,,ENST00000468697,;CEP170,upstream_gene_variant,,ENST00000439296,;							LOW	4185/4755		CE170_HUMAN			Transcript			.	ENSP00000355500		CCDS44339.1			1	
TRIOBP	0	LGGM	GRCh37	22	38120377	38120377	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	94	9	.	.	ENST00000406386.3:c.1814G>T	p.Arg605Leu	p.R605L	ENST00000406386	NM_001039141.2	605	cGg/cTg	0	1	1	UPI000067CB88	0	NA	ENST00000406386		ENSG00000100106	17009		103	1.39		HGNC	p.R605L		TRIOBP		SNV			1				ENST00000406386	protein_coding	getma.org/?cm=var&var=hg19,22,38120377,G,T&fts=all				R/L		T	low	2069/10129		getma.org/?cm=msa&ty=f&p=TARA_HUMAN&rb=341&re=979&var=R605L	deleterious_low_confidence(0.01)	F6WYE2_HUMAN,F6WMF4_HUMAN			YES	TRIOBP,missense_variant,p.Arg605Leu,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;							MODERATE	1814/7098	R605L	TARA_HUMAN			Transcript		benign(0)	.	ENSP00000384312		CCDS43015.1			1	
HDLBP	0	LGGM	GRCh37	2	242194503	242194503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	176	9	.	.	ENST00000391975.1:c.1151G>T	p.Gly384Val	p.G384V	ENST00000391975	NM_203346.3	384	gGg/gTg	0	1	1	UPI00001AEF85	0	getma.org/pdb.php?prot=VIGLN_HUMAN&from=366&to=424&var=G384V	ENST00000391975		ENSG00000115677	4857		185	2.82		HGNC	p.G351V		HDLBP		SNV							ENST00000427183	protein_coding	getma.org/?cm=var&var=hg19,2,242194503,C,A&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		G/V		A	medium	1379/6372		getma.org/?cm=msa&ty=f&p=VIGLN_HUMAN&rb=366&re=424&var=G384V	deleterious(0)	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			YES	HDLBP,missense_variant,p.Gly384Val,ENST00000391975,NM_203346.3;HDLBP,missense_variant,p.Gly384Val,ENST00000310931,NM_005336.4;HDLBP,missense_variant,p.Gly384Val,ENST00000391976,;HDLBP,missense_variant,p.Gly351Val,ENST00000427183,NM_001243900.1;HDLBP,missense_variant,p.Gly193Val,ENST00000373292,;HDLBP,missense_variant,p.Gly262Val,ENST00000453141,;HDLBP,downstream_gene_variant,,ENST00000428482,;HDLBP,downstream_gene_variant,,ENST00000452065,;HDLBP,downstream_gene_variant,,ENST00000422933,;HDLBP,downstream_gene_variant,,ENST00000442714,;HDLBP,non_coding_transcript_exon_variant,,ENST00000477477,;HDLBP,upstream_gene_variant,,ENST00000476807,;HDLBP,non_coding_transcript_exon_variant,,ENST00000467435,;HDLBP,non_coding_transcript_exon_variant,,ENST00000498595,;HDLBP,upstream_gene_variant,,ENST00000487169,;HDLBP,downstream_gene_variant,,ENST00000470710,;							MODERATE	1151/3807	G384V	VIGLN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000375836		CCDS2547.1			1	
FLG2	0	LGGM	GRCh37	1	152323992	152323992	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	223	9	.	.	ENST00000388718.5:c.6270C>A	p.Ser2090=	p.S2090=	ENST00000388718	NM_001014342.2	2090	tcC/tcA	0	1	1	UPI00004E1DE5	0		ENST00000388718		ENSG00000143520	33276		232			HGNC	p.S2090S		FLG2		SNV							ENST00000388718	protein_coding			Low_complexity_(Seg):seg		S		T		6343/9124							YES	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							LOW	6270/7176		FILA2_HUMAN			Transcript			.	ENSP00000373370		CCDS30861.1			1	
SEL1L	0	LGGM	GRCh37	14	81969116	81969116	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	154	9	.	.	ENST00000336735.4:c.726G>T	p.Ala242=	p.A242=	ENST00000336735	NM_005065.5	242	gcG/gcT	0	1	1	UPI0000135746	0		ENST00000336735		ENSG00000071537	10717		163			HGNC	p.A242A		SEL1L		SNV							ENST00000555824	protein_coding			hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,Gene3D:1.25.40.10,Pfam_domain:PF08238,SMART_domains:SM00671,Superfamily_domains:SSF81901		A		A		843/7925							YES	SEL1L,synonymous_variant,p.=,ENST00000336735,NM_005065.5;SEL1L,synonymous_variant,p.=,ENST00000555824,NM_001244984.1;SEL1L,downstream_gene_variant,,ENST00000557372,;SEL1L,non_coding_transcript_exon_variant,,ENST00000554744,;							LOW	726/2385		SE1L1_HUMAN			Transcript			.	ENSP00000337053		CCDS9876.1			1	
FMN1	0	LGGM	GRCh37	15	33192181	33192181	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	229	9	.	.	ENST00000334528.9:c.2984G>T	p.Arg995Leu	p.R995L	ENST00000334528	NM_001103184.3	995	cGg/cTg	0	1		UPI0001AE68B4	0	getma.org/pdb.php?prot=FMN1_HUMAN&from=972&to=1363&var=R1218L	ENST00000559047		ENSG00000248905	3768		238	1.445		HGNC	p.R1120L		FMN1		SNV							ENST00000561249	protein_coding	getma.org/?cm=var&var=hg19,15,33192181,C,A&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		R/L		A	low	3653/4260		getma.org/?cm=msa&ty=f&p=FMN1_HUMAN&rb=972&re=1363&var=R1218L						FMN1,missense_variant,p.Arg995Leu,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Arg1218Leu,ENST00000559047,NM_001277313.1;FMN1,missense_variant,p.Arg1120Leu,ENST00000561249,;FMN1,missense_variant,p.Arg172Leu,ENST00000560317,;FMN1,3_prime_UTR_variant,,ENST00000558711,;snoU13,downstream_gene_variant,,ENST00000459314,;							MODERATE	3653/4260	R1218L	FMN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000454047		CCDS61581.1			1	
TDRD15	0	LGGM	GRCh37	2	21363014	21363014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	240	9	.	.	ENST00000405799.1:c.2675C>A	p.Ser892Tyr	p.S892Y	ENST00000405799		892	tCt/tAt	0	1	1	UPI000173A3F5	0		ENST00000405799		ENSG00000218819	45037		249			HGNC	p.S892Y		TDRD15		SNV							ENST00000405799	protein_coding			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF2		S/Y		A		3005/6135			deleterious(0.02)				YES	TDRD15,missense_variant,p.Ser892Tyr,ENST00000405799,;							MODERATE	2675/5805		TDR15_HUMAN			Transcript		benign(0.018)	.	ENSP00000384376					1	
AHNAK	0	LGGM	GRCh37	11	62296921	62296921	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	128	9	.	.	ENST00000378024.4:c.4968C>A	p.Pro1656=	p.P1656=	ENST00000378024	NM_001620.2	1656	ccC/ccA	0	1	1	UPI00004EC29C	0		ENST00000378024		ENSG00000124942	347		137			HGNC	p.P1656P		AHNAK		SNV							ENST00000378024	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		P		T		5243/18787				E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	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,,ENST00000528508,;							LOW	4968/17673		AHNK_HUMAN			Transcript			.	ENSP00000367263		CCDS31584.1			1	
SCGB1D4	0	LGGM	GRCh37	11	62064988	62064988	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	230	9	.	.	ENST00000358585.1:c.198C>A	p.Thr66=	p.T66=	ENST00000358585	NM_206998.1	66	acC/acA	0	1	1	UPI0000049DF4	0		ENST00000358585		ENSG00000197745	31748		239			HGNC	p.T66T		SCGB1D4		SNV							ENST00000358585	protein_coding			PROSITE_profiles:PS51311,hmmpanther:PTHR11332,hmmpanther:PTHR11332:SF4,Pfam_domain:PF01099,Superfamily_domains:SSF48201		T		T		252/434							YES	SCGB1D4,synonymous_variant,p.=,ENST00000358585,NM_206998.1;							LOW	198/252		SG1D4_HUMAN			Transcript			.	ENSP00000351395		CCDS31583.1			1	
ZXDC	0	LGGM	GRCh37	3	126178550	126178550	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	174	9	.	.	ENST00000389709.3:c.2158C>A	p.Arg720=	p.R720=	ENST00000389709	NM_025112.4	720	Cga/Aga	0	1	1	UPI0000D7A440	0		ENST00000389709		ENSG00000070476	28160		183			HGNC	p.R720R	rs763498935	ZXDC		SNV							ENST00000389709	protein_coding			hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF74		R		T		2212/3405	1.50E-05			Q9H891_HUMAN,Q69YU0_HUMAN			YES	ZXDC,synonymous_variant,p.=,ENST00000389709,NM_025112.4;ZXDC,downstream_gene_variant,,ENST00000336332,NM_001040653.2;ZXDC,intron_variant,,ENST00000515545,;							LOW	2158/2577		ZXDC_HUMAN			Transcript			.	ENSP00000374359	8.27E-06	CCDS43145.1			1	
SMCHD1	0	LGGM	GRCh37	18	2728524	2728524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	212	9	.	.	ENST00000320876.6:c.2843C>A	p.Pro948Gln	p.P948Q	ENST00000320876	NM_015295.2	948	cCa/cAa	0	1	1	UPI00001D7AAD	0	NA	ENST00000320876		ENSG00000101596	29090		221	1.39		HGNC	p.P948Q		SMCHD1		SNV			1				ENST00000320876	protein_coding	getma.org/?cm=var&var=hg19,18,2728524,C,A&fts=all		hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640		P/Q		A	low	3181/8821		getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=900&re=1099&var=P948Q	tolerated(0.11)				YES	SMCHD1,missense_variant,p.Pro948Gln,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Pro948Gln,ENST00000261598,;RP11-703M24.5,intron_variant,,ENST00000583546,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000609587,;SMCHD1,missense_variant,p.Pro419Gln,ENST00000577880,;SMCHD1,3_prime_UTR_variant,,ENST00000584897,;SMCHD1,non_coding_transcript_exon_variant,,ENST00000581631,;SMCHD1,downstream_gene_variant,,ENST00000581383,;							MODERATE	2843/6018	P948Q	SMHD1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000326603		CCDS45822.1			1	
PSD3	0	LGGM	GRCh37	8	18793610	18793610	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	185	9	.	.	ENST00000327040.8:c.64C>A	p.Gln22Lys	p.Q22K	ENST00000327040	NM_015310.3	22	Cag/Aag	0	1		UPI0001AE6EBA	0	NA	ENST00000440756		ENSG00000156011	19093		194	0.205		HGNC	p.Q22K		PSD3		SNV							ENST00000440756	protein_coding	getma.org/?cm=var&var=hg19,8,18793610,G,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106		Q/K		T	neutral	167/11693		getma.org/?cm=msa&ty=f&p=PSD3_HUMAN&rb=8&re=544&var=Q22K	tolerated_low_confidence(0.07)	J3KQK0_HUMAN				PSD3,missense_variant,p.Gln22Lys,ENST00000440756,;PSD3,missense_variant,p.Gln22Lys,ENST00000327040,NM_015310.3;PSD3,missense_variant,p.Gln123Lys,ENST00000521475,;PSD3,non_coding_transcript_exon_variant,,ENST00000520789,;PSD3,non_coding_transcript_exon_variant,,ENST00000521841,;							MODERATE	64/3150	Q22K				Transcript		probably_damaging(0.984)	.	ENSP00000401704					1	
MELK	0	LGGM	GRCh37	9	36630330	36630330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	225	9	.	.	ENST00000298048.2:c.701C>A	p.Pro234His	p.P234H	ENST00000298048	NM_014791.3	234	cCc/cAc	0	1	1	UPI000004776B	0	getma.org/pdb.php?prot=MELK_HUMAN&from=11&to=263&var=P234H	ENST00000298048		ENSG00000165304	16870		234	2.215		HGNC	p.P40H		MELK		SNV							ENST00000538311	protein_coding	getma.org/?cm=var&var=hg19,9,36630330,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343,PROSITE_profiles:PS50011		P/H		A	medium	885/2309		getma.org/?cm=msa&ty=f&p=MELK_HUMAN&rb=11&re=263&var=P234H	tolerated(0.05)	A7BG63_HUMAN			YES	MELK,missense_variant,p.Pro202His,ENST00000543751,NM_001256689.1;MELK,missense_variant,p.Pro234His,ENST00000298048,NM_014791.3;MELK,missense_variant,p.Pro234His,ENST00000541717,NM_001256685.1;MELK,missense_variant,p.Pro186His,ENST00000536860,NM_001256691.1,NM_001256687.1;MELK,missense_variant,p.Pro40His,ENST00000538311,;MELK,missense_variant,p.Pro163His,ENST00000545008,NM_001256688.1;MELK,missense_variant,p.Pro163His,ENST00000536329,NM_001256690.1;MELK,missense_variant,p.Pro103His,ENST00000536987,NM_001256693.1,NM_001256692.1;MELK,non_coding_transcript_exon_variant,,ENST00000487398,;MELK,non_coding_transcript_exon_variant,,ENST00000495529,;MELK,non_coding_transcript_exon_variant,,ENST00000480021,;							MODERATE	701/1956	P234H	MELK_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000298048		CCDS6606.1			1	
SUN3	0	LGGM	GRCh37	7	48026985	48026985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	194	9	.	.	ENST00000297325.4:c.1016C>A	p.Pro339Gln	p.P339Q	ENST00000297325	NM_001030019.1	339	cCg/cAg	0	1	1	UPI000057B85F	0	getma.org/pdb.php?prot=SUN3_HUMAN&from=219&to=353&var=P339Q	ENST00000297325		ENSG00000164744	22429		203	1.565		HGNC	p.P339Q		SUN3		SNV							ENST00000297325	protein_coding	getma.org/?cm=var&var=hg19,7,48026985,G,T&fts=all		Pfam_domain:PF07738,PROSITE_profiles:PS51469,hmmpanther:PTHR12911,hmmpanther:PTHR12911:SF15		P/Q		T	low	1176/1416		getma.org/?cm=msa&ty=f&p=SUN3_HUMAN&rb=219&re=353&var=P339Q	deleterious(0.01)				YES	SUN3,missense_variant,p.Pro327Gln,ENST00000453192,NM_001284350.1;SUN3,missense_variant,p.Pro339Gln,ENST00000297325,NM_001030019.1;SUN3,missense_variant,p.Pro251Gln,ENST00000412142,;SUN3,missense_variant,p.Pro339Gln,ENST00000395572,NM_152782.3;SUN3,missense_variant,p.Pro263Gln,ENST00000453071,;SUN3,missense_variant,p.Pro251Gln,ENST00000438771,;SUN3,intron_variant,,ENST00000412371,;SUN3,non_coding_transcript_exon_variant,,ENST00000473723,;SUN3,3_prime_UTR_variant,,ENST00000449896,;SUN3,non_coding_transcript_exon_variant,,ENST00000461953,;							MODERATE	1016/1074	P339Q	SUN3_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000297325		CCDS34636.1			1	
NLRP5	0	LGGM	GRCh37	19	56531772	56531772	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	198	9	.	.	ENST00000390649.3:c.654C>A	p.Ala218=	p.A218=	ENST00000390649	NM_153447.4	218	gcC/gcA	0	1	1	UPI00001AEEBD	0		ENST00000390649		ENSG00000171487	21269		207			HGNC	p.A218A		NLRP5		SNV							ENST00000390649	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106		A		A		654/3888							YES	NLRP5,synonymous_variant,p.=,ENST00000390649,NM_153447.4;NLRP5,3_prime_UTR_variant,,ENST00000597673,;							LOW	654/3603		NALP5_HUMAN			Transcript			.	ENSP00000375063		CCDS12938.1			1	
TTF1	0	LGGM	GRCh37	9	135277278	135277278	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	95	9	.	.	ENST00000334270.2:c.931C>A	p.Arg311=	p.R311=	ENST00000334270	NM_001205296.1	311	Cgg/Agg	0	1	1	UPI00001B55A7	0		ENST00000334270		ENSG00000125482	12397		104			HGNC	p.R311R		TTF1		SNV							ENST00000334270	protein_coding					R		T		971/3052							YES	TTF1,synonymous_variant,p.=,ENST00000334270,NM_001205296.1,NM_007344.3;							LOW	931/2718		TTF1_HUMAN			Transcript			.	ENSP00000333920		CCDS6948.1			1	
HDAC9	0	LGGM	GRCh37	7	18975551	18975551	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	208	9	.	.	ENST00000441542.2:c.2923C>A	p.Leu975Ile	p.L975I	ENST00000441542	NM_178425.2	975	Ctt/Att	0	1		UPI000012C3B3	0	getma.org/pdb.php?prot=HDAC9_HUMAN&from=643&to=973&var=L972I	ENST00000432645		ENSG00000048052	14065		217	3.585		HGNC	p.L975I		HDAC9		SNV			1				ENST00000441542	protein_coding	getma.org/?cm=var&var=hg19,7,18975551,C,A&fts=all		Gene3D:3.40.800.20,Pfam_domain:PF00850,PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF116,Superfamily_domains:SSF52768		L/I		A	high	2914/3099		getma.org/?cm=msa&ty=f&p=HDAC9_HUMAN&rb=643&re=973&var=L972I	deleterious(0)	Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,Q75N08_HUMAN,C9JLX1_HUMAN,C9JD56_HUMAN				HDAC9,missense_variant,p.Leu972Ile,ENST00000406451,NM_178423.1;HDAC9,missense_variant,p.Leu931Ile,ENST00000401921,;HDAC9,missense_variant,p.Leu975Ile,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Leu972Ile,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000496026,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;							MODERATE	2914/3036	L972I	HDAC9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000410337		CCDS47555.1			1	
MORC4	0	LGGM	GRCh37	X	106221351	106221351	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	175	9	.	.	ENST00000355610.4:c.1015C>A	p.Arg339=	p.R339=	ENST00000355610	NM_001085354.2	339	Cga/Aga	0	1	1	UPI00003E75D3	0		ENST00000355610		ENSG00000133131	23485		184			HGNC	p.R339R		MORC4		SNV							ENST00000255495	protein_coding			hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1		R		T		1290/3834							YES	MORC4,synonymous_variant,p.=,ENST00000355610,NM_001085354.2,NM_024657.4;MORC4,synonymous_variant,p.=,ENST00000535534,;MORC4,synonymous_variant,p.=,ENST00000255495,;MORC4,intron_variant,,ENST00000604604,;							LOW	1015/2814		MORC4_HUMAN			Transcript			.	ENSP00000347821		CCDS14525.2			1	
USP2	0	LGGM	GRCh37	11	119228467	119228467	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	223	9	.	.	ENST00000260187.2:c.1501C>A	p.His501Asn	p.H501N	ENST00000260187	NM_004205.4	501	Cat/Aat	0	1	1	UPI00001379D8	0	getma.org/pdb.php?prot=UBP2_HUMAN&from=264&to=596&var=H501N	ENST00000260187		ENSG00000036672	12618		232	3.43		HGNC	p.H258N		USP2		SNV							ENST00000455332	protein_coding	getma.org/?cm=var&var=hg19,11,119228467,G,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF396,Pfam_domain:PF00443,Superfamily_domains:SSF54001		H/N		T	medium	1796/3732		getma.org/?cm=msa&ty=f&p=UBP2_HUMAN&rb=264&re=596&var=H501N	deleterious(0.01)	E9PSH6_HUMAN,E9PJ34_HUMAN,B7Z7C2_HUMAN			YES	USP2,missense_variant,p.His501Asn,ENST00000260187,NM_004205.4;USP2,missense_variant,p.His258Asn,ENST00000455332,NM_001243759.1;USP2,missense_variant,p.His292Asn,ENST00000525735,NM_171997.2;USP2,downstream_gene_variant,,ENST00000525189,;USP2,downstream_gene_variant,,ENST00000532613,;							MODERATE	1501/1818	H501N	UBP2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000260187		CCDS8422.1			1	
MUC12	0	LGGM	GRCh37	7	100635923	100635923	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	239	10	.	.	ENST00000536621.1:c.2079G>T	p.Pro693=	p.P693=	ENST00000536621	NM_001164462.1	693	ccG/ccT	0	1		UPI0001722DB1	0		ENST00000379442		ENSG00000205277	7510		249			HGNC	p.P693P		MUC12		SNV							ENST00000536621	protein_coding			hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		P		T		2508/16737								MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;							LOW	2508/16437		MUC12_HUMAN			Transcript			.	ENSP00000368755					1	
ATM	0	LGGM	GRCh37	11	108224554	108224554	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	227	10	.	.	ENST00000278616.4:c.8733C>A	p.Thr2911=	p.T2911=	ENST00000278616	NM_000051.3	2911	acC/acA	0	1	1	UPI0000DBEF44	0		ENST00000278616		ENSG00000149311	795		237			HGNC	p.T2911T		ATM		SNV			1				ENST00000452508	protein_coding			Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:1.10.1070.11,Pfam_domain:PF00454,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS50290		T		A		9118/13147				M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,synonymous_variant,p.=,ENST00000278616,NM_000051.3;ATM,synonymous_variant,p.=,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000524755,;ATM,non_coding_transcript_exon_variant,,ENST00000525178,;C11orf65,intron_variant,,ENST00000526725,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000527181,;C11orf65,intron_variant,,ENST00000527531,;							LOW	8733/9171		ATM_HUMAN			Transcript			.	ENSP00000278616		CCDS31669.1			1	
IL31RA	0	LGGM	GRCh37	5	55202043	55202043	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	29	10	.	.	ENST00000447346.2:c.1179G>A	p.Pro393=	p.P393=	ENST00000447346	NM_001242636.1	393	ccG/ccA	0	1	1	UPI00001A41DC	0		ENST00000447346		ENSG00000164509	18969		39			HGNC	p.P393P	rs547992094,COSM266705	IL31RA		SNV			1	0.000192		0,1	ENST00000447346	protein_coding		A:0.0008	hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		A		1244/2577	5.99E-05				A:0	A:0	YES	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,;		A:0.0002			0,1		LOW	1179/2295		IL31R_HUMAN		A:0	Transcript			.	ENSP00000415900	4.94E-05	CCDS3970.2		A:0	1	
EXOC6B	0	LGGM	GRCh37	2	72802753	72802753	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	145	10	.	.	ENST00000272427.6:c.714C>A	p.Pro238=	p.P238=	ENST00000272427	NM_015189.1	238	ccC/ccA	0	1	1	UPI000046995C	0		ENST00000272427		ENSG00000144036	17085		155			HGNC	p.P238P		EXOC6B		SNV							ENST00000272427	protein_coding			PIRSF_domain:PIRSF025007,hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3		P		T		845/5918				Q9H8D6_HUMAN			YES	EXOC6B,synonymous_variant,p.=,ENST00000272427,NM_015189.1;EXOC6B,synonymous_variant,p.=,ENST00000410104,;EXOC6B,3_prime_UTR_variant,,ENST00000410112,;							LOW	714/2436		EXC6B_HUMAN			Transcript			.	ENSP00000272427		CCDS46333.1			1	
SMG7	0	LGGM	GRCh37	1	183514208	183514208	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	96	10	.	.	ENST00000507469.1:c.1993G>T	p.Gly665Trp	p.G665W	ENST00000507469	NM_201569.2	665	Ggg/Tgg	0	1		UPI0000203D1B	0	NA	ENST00000347615		ENSG00000116698	16792		106	0.805		HGNC	p.G694W		SMG7		SNV							ENST00000367537	protein_coding	getma.org/?cm=var&var=hg19,1,183514208,G,T&fts=all		hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF0		G/W		T	low	2250/5788		getma.org/?cm=msa&ty=f&p=SMG7_HUMAN&rb=479&re=1135&var=G711W	deleterious_low_confidence(0)	Q6TV06_HUMAN				SMG7,missense_variant,p.Gly694Trp,ENST00000367537,;SMG7,missense_variant,p.Gly711Trp,ENST00000347615,NM_173156.2;SMG7,missense_variant,p.Gly665Trp,ENST00000515829,NM_201568.2;SMG7,missense_variant,p.Gly665Trp,ENST00000507469,NM_201569.2;SMG7,missense_variant,p.Gly669Trp,ENST00000508461,NM_001174061.1;SMG7,missense_variant,p.Gly623Trp,ENST00000456731,;SMG7,missense_variant,p.Gly623Trp,ENST00000419169,;SMG7,upstream_gene_variant,,ENST00000493045,;							MODERATE	2131/3414	G711W	SMG7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000340766		CCDS1355.1			1	
MUC12	0	LGGM	GRCh37	7	100635015	100635015	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	329	11	.	.	ENST00000536621.1:c.1171G>T	p.Gly391Cys	p.G391C	ENST00000536621	NM_001164462.1	391	Ggc/Tgc	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		340	0		HGNC	p.G391C		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100635015,G,T&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9,Low_complexity_(Seg):seg		G/C		T	neutral	1600/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=G534C						MUC12,missense_variant,p.Gly534Cys,ENST00000379442,;MUC12,missense_variant,p.Gly391Cys,ENST00000536621,NM_001164462.1;							MODERATE	1600/16437	G534C	MUC12_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000368755					1	
TTN	0	LGGM	GRCh37	2	179444299	179444299	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	192	11	.	.	ENST00000589042.1:c.67625G>T	p.Arg22542Met	p.R22542M	ENST00000589042	NM_001267550.1	22542	aGg/aTg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=20893&to=20996&var=R20901M	ENST00000591111		ENSG00000155657	12403		203	1.57		HGNC	p.R20901M		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179444299,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		R/M		A	low	62927/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=20893&re=20996&var=R20901M		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg22542Met,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg20901Met,ENST00000591111,;TTN,missense_variant,p.Arg19974Met,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg13669Met,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg13602Met,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg13477Met,ENST00000460472,NM_003319.4;RP11-171I2.2,non_coding_transcript_exon_variant,,ENST00000603521,;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,downstream_gene_variant,,ENST00000604215,;							MODERATE	62702/103053	R20901M	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CENPO	0	LGGM	GRCh37	2	25039558	25039558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	259	11	.	.	ENST00000380834.2:c.638C>A	p.Pro213Gln	p.P213Q	ENST00000380834		213	cCa/cAa	0	1		UPI000006F5F6	0	NA	ENST00000260662		ENSG00000138092	28152		270	0.69		HGNC	p.P213Q		CENPO		SNV							ENST00000380834	protein_coding	getma.org/?cm=var&var=hg19,2,25039558,C,A&fts=all		hmmpanther:PTHR14582		P/Q		A	neutral	763/1625		getma.org/?cm=msa&ty=f&p=CENPO_HUMAN&rb=198&re=300&var=P213Q	deleterious(0)					CENPO,missense_variant,p.Pro213Gln,ENST00000380834,;CENPO,missense_variant,p.Pro207Gln,ENST00000473706,NM_001199803.1;CENPO,missense_variant,p.Pro213Gln,ENST00000260662,NM_024322.2;ADCY3,downstream_gene_variant,,ENST00000260600,NM_004036.3;ADCY3,downstream_gene_variant,,ENST00000606682,;ADCY3,downstream_gene_variant,,ENST00000405392,;ADCY3,downstream_gene_variant,,ENST00000498288,;CENPO,non_coding_transcript_exon_variant,,ENST00000498362,;CENPO,intron_variant,,ENST00000395845,;CENPO,intron_variant,,ENST00000464156,;CENPO,downstream_gene_variant,,ENST00000491031,;ADCY3,downstream_gene_variant,,ENST00000485887,;CENPO,downstream_gene_variant,,ENST00000486527,;							MODERATE	638/903	P213Q	CENPO_HUMAN			Transcript		benign(0.095)	.	ENSP00000260662		CCDS1714.1			1	
NEO1	0	LGGM	GRCh37	15	73575322	73575322	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	269	11	.	.	ENST00000339362.5:c.3280G>T	p.Gly1094Trp	p.G1094W	ENST00000339362		1094	Ggg/Tgg	0	1		UPI000013D221	0	NA	ENST00000261908		ENSG00000067141	7754		280	1.625		HGNC	p.G1083W		NEO1		SNV							ENST00000558964	protein_coding	getma.org/?cm=var&var=hg19,15,73575322,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF55		G/W		T	low	3472/7088		getma.org/?cm=msa&ty=f&p=NEO1_HUMAN&rb=1045&re=1155&var=G1094W	deleterious(0)					NEO1,missense_variant,p.Gly1094Trp,ENST00000339362,;NEO1,missense_variant,p.Gly1094Trp,ENST00000261908,NM_002499.3,NM_001172624.1,NM_001172623.1;NEO1,missense_variant,p.Gly763Trp,ENST00000560328,;NEO1,missense_variant,p.Gly1083Trp,ENST00000558964,;NEO1,missense_variant,p.Gly1094Trp,ENST00000560262,;							MODERATE	3280/4386	G1094W	NEO1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000261908		CCDS10247.1			1	
LRP2	0	LGGM	GRCh37	2	170129437	170129437	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	244	11	.	.	ENST00000263816.3:c.2116G>T	p.Ala706Ser	p.A706S	ENST00000263816	NM_004525.2	706	Gct/Tct	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=567&to=766&var=A706S	ENST00000263816		ENSG00000081479	6694		255	1.69		HGNC	p.G637X		LRP2		SNV			1				ENST00000443831	protein_coding	getma.org/?cm=var&var=hg19,2,170129437,C,A&fts=all		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Superfamily_domains:SSF57184		A/S		A	low	2402/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=567&re=766&var=A706S		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,stop_gained,p.Gly637Ter,ENST00000443831,;LRP2,missense_variant,p.Ala706Ser,ENST00000263816,NM_004525.2;LRP2,splice_region_variant,,ENST00000493501,;							MODERATE	2116/13968	A706S	LRP2_HUMAN			Transcript		benign(0.06)	.	ENSP00000263816		CCDS2232.1			1	
WDR64	0	LGGM	GRCh37	1	241938511	241938511	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	190	11	.	.	ENST00000366552.2:c.2505G>T	p.Val835=	p.V835=	ENST00000366552	NM_144625.4	835	gtG/gtT	0	1	1	UPI0000519142	0		ENST00000366552		ENSG00000162843	26570		201			HGNC	p.V393V		WDR64		SNV							ENST00000472717	protein_coding			hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF138,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		V		T		2712/4371				D6RCR1_HUMAN			YES	WDR64,splice_region_variant,p.=,ENST00000366552,NM_144625.4;WDR64,splice_region_variant,p.=,ENST00000425826,;WDR64,intron_variant,,ENST00000437684,;WDR64,intron_variant,,ENST00000414635,;WDR64,splice_region_variant,,ENST00000468967,;WDR64,splice_region_variant,p.=,ENST00000472717,;WDR64,splice_region_variant,,ENST00000478331,;							LOW	2505/3246		WDR64_HUMAN			Transcript			.	ENSP00000355510					1	
C1orf53	0	LGGM	GRCh37	1	197874986	197874986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	161	11	.	.	ENST00000367393.3:c.325C>A	p.His109Asn	p.H109N	ENST00000367393	NM_001024594.2	109	Cac/Aac	0	1	1	UPI00001AFA8A	0	NA	ENST00000367393		ENSG00000203724	30003		172	2.725		HGNC	p.H109N		C1orf53		SNV							ENST00000367393	protein_coding	getma.org/?cm=var&var=hg19,1,197874986,C,A&fts=all		hmmpanther:PTHR21037		H/N		A	medium	328/588		getma.org/?cm=msa&ty=f&p=CA053_HUMAN&rb=1&re=144&var=H109N	deleterious(0)				YES	C1orf53,missense_variant,p.His109Asn,ENST00000367393,NM_001024594.2;C1orf53,missense_variant,p.His46Asn,ENST00000436652,;C1orf53,non_coding_transcript_exon_variant,,ENST00000542800,;							MODERATE	325/438	H109N	CA053_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356363		CCDS44290.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144917635	144917635	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	251	12	.	.	ENST00000369356.4:c.1469G>T	p.Arg490Leu	p.R490L	ENST00000369356	NM_014644.5	490	cGg/cTg	0	1		UPI0000251FAA	0	NA	ENST00000369354		ENSG00000178104	15580		263	2.045		HGNC	p.R627L		PDE4DIP		SNV							ENST00000530740	protein_coding	getma.org/?cm=var&var=hg19,1,144917635,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2		R/L		A	medium	1659/8262		getma.org/?cm=msa&ty=f&p=MYOME_HUMAN&rb=479&re=678&var=R490L		I1VE15_HUMAN				PDE4DIP,missense_variant,p.Arg653Leu,ENST00000529945,;PDE4DIP,missense_variant,p.Arg627Leu,ENST00000369359,;PDE4DIP,missense_variant,p.Arg490Leu,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,missense_variant,p.Arg627Leu,ENST00000530740,;PDE4DIP,missense_variant,p.Arg490Leu,ENST00000369354,;PDE4DIP,missense_variant,p.Arg556Leu,ENST00000313382,NM_001198832.2;PDE4DIP,missense_variant,p.Arg653Leu,ENST00000313431,NM_001002811.2;PDE4DIP,missense_variant,p.Arg490Leu,ENST00000369351,;PDE4DIP,missense_variant,p.Arg490Leu,ENST00000369349,NM_001002812.2;PDE4DIP,missense_variant,p.Arg277Leu,ENST00000479408,;PDE4DIP,downstream_gene_variant,,ENST00000532801,;PDE4DIP,splice_region_variant,,ENST00000467859,;PDE4DIP,upstream_gene_variant,,ENST00000533963,;PDE4DIP,splice_region_variant,,ENST00000496263,;PDE4DIP,intron_variant,,ENST00000525886,;							MODERATE	1469/7041	R490L	MYOME_HUMAN			Transcript		possibly_damaging(0.644)	.	ENSP00000358360		CCDS30824.1			1	
CFHR4	0	LGGM	GRCh37	1	196879534	196879534	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090284	H090284N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	120	13	.	.	ENST00000367416.2:c.920T>C	p.Val307Ala	p.V307A	ENST00000367416	NM_001201551.1	307	gTg/gCg	0	1	1	UPI0001F6C576	0	getma.org/pdb.php?prot=A8K9N7_HUMAN&from=270&to=334&var=V307A	ENST00000367416		ENSG00000134365	16979		133	1.155		HGNC	p.V61A	rs775856781	CFHR4		SNV							ENST00000367418	protein_coding	getma.org/?cm=var&var=hg19,1,196879534,T,C&fts=all		Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF328,SMART_domains:SM00032		V/A		C	low	1057/2178	1.51E-05	getma.org/?cm=msa&ty=f&p=A8K9N7_HUMAN&rb=270&re=334&var=V307A	tolerated(0.43)				YES	CFHR4,missense_variant,p.Val307Ala,ENST00000367416,NM_001201551.1,NM_001201550.2;CFHR4,missense_variant,p.Val61Ala,ENST00000367418,;CFHR4,intron_variant,,ENST00000608469,;CFHR4,intron_variant,,ENST00000251424,NM_006684.4;CFHR2,intron_variant,,ENST00000367421,;							MODERATE	920/1734	V307A	FHR4_HUMAN			Transcript		benign(0.153)	.	ENSP00000356386	1.65E-05	CCDS55671.1	0.00112		1	
NAMPT	0	LGGM	GRCh37	7	105903950	105903950	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090284	H090284N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	94	13	.	.	ENST00000222553.3:c.857C>T	p.Ala286Val	p.A286V	ENST00000222553	NM_005746.2	286	gCg/gTg	0	1	1	UPI0000131383	0	getma.org/pdb.php?prot=NAMPT_HUMAN&from=188&to=466&var=A286V	ENST00000222553		ENSG00000105835	30092		107	1.83		HGNC	p.A286V	COSM283105	NAMPT		SNV						1	ENST00000222553	protein_coding	getma.org/?cm=var&var=hg19,7,105903950,G,A&fts=all		Gene3D:3.20.140.10,Pfam_domain:PF04095,PIRSF_domain:PIRSF005943,hmmpanther:PTHR11098,hmmpanther:PTHR11098:SF2,Superfamily_domains:SSF51690		A/V		A	low	1165/4582		getma.org/?cm=msa&ty=f&p=NAMPT_HUMAN&rb=188&re=466&var=A286V	deleterious(0.02)	Q658Z1_HUMAN,F5H246_HUMAN,C9JG65_HUMAN,C9JF35_HUMAN			YES	NAMPT,missense_variant,p.Ala286Val,ENST00000222553,NM_005746.2;NAMPT,missense_variant,p.Ala286Val,ENST00000354289,;NAMPT,downstream_gene_variant,,ENST00000467730,;NAMPT,non_coding_transcript_exon_variant,,ENST00000491027,;					1		MODERATE	857/1476	A286V	NAMPT_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000222553		CCDS5737.1			1	
NPIPB5	0	LGGM	GRCh37	16	22545785	22545785	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	157	14	.	.	ENST00000424340.1:c.1481C>T	p.Thr494Ile	p.T494I	ENST00000424340	NM_001135865.1	494	aCa/aTa	0	1	1	UPI000181EF82	0	NA	ENST00000424340		ENSG00000243716	37233	0.000182	171	0.895		HGNC	p.T494I	rs768042596	NPIPB5	0.000137	SNV				0.000261			ENST00000517539	protein_coding	getma.org/?cm=var&var=hg19,16,22545785,C,T&fts=all		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		T/I		T	low	1760/3801	3.36E-05	getma.org/?cm=msa&ty=f&p=NPPL3_HUMAN&rb=486&re=527&var=T494I	deleterious_low_confidence(0.03)	U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,missense_variant,p.Thr494Ile,ENST00000424340,NM_001135865.1;NPIPB5,missense_variant,p.Thr494Ile,ENST00000517539,;NPIPB5,missense_variant,p.Thr494Ile,ENST00000415833,;NPIPB5,missense_variant,p.Thr494Ile,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;	0.000744						MODERATE	1481/3402	T494I	NPIB5_HUMAN			Transcript		probably_damaging(0.954)	common_variant	ENSP00000440703	0.000128	CCDS45443.1			1	
ADAM29	0	LGGM	GRCh37	4	175897676	175897676	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090284	H090284N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	101	15	.	.	ENST00000359240.3:c.1000C>G	p.Leu334Val	p.L334V	ENST00000359240	NM_014269.4	334	Cta/Gta	0	1	1	UPI000013E9DE	0	getma.org/pdb.php?prot=ADA29_HUMAN&from=198&to=389&var=L334V	ENST00000359240		ENSG00000168594	207		116	2.73		HGNC	p.L334V		ADAM29		SNV							ENST00000445694	protein_coding	getma.org/?cm=var&var=hg19,4,175897676,C,G&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486		L/V		G	medium	1670/3325		getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=198&re=389&var=L334V	tolerated(0.07)	D6RHU0_HUMAN,D6RBU0_HUMAN			YES	ADAM29,missense_variant,p.Leu334Val,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Leu334Val,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Leu334Val,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Leu334Val,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,;							MODERATE	1000/2463	L334V	ADA29_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000352177		CCDS3823.1			1	
DTX1	0	LGGM	GRCh37	12	113496048	113496048	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	6	2	.	.	ENST00000257600.3:c.51C>G	p.Phe17Leu	p.F17L	ENST00000257600	NM_004416.2	17	ttC/ttG	0	1	1	UPI000013CF71	0	NA	ENST00000257600		ENSG00000135144	3060		8	0.55		HGNC	p.F17L		DTX1		SNV							ENST00000257600	protein_coding	getma.org/?cm=var&var=hg19,12,113496048,C,G&fts=all		PROSITE_profiles:PS50918,hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF7		F/L		G	neutral	554/3455		getma.org/?cm=msa&ty=f&p=DTX1_HUMAN&rb=14&re=94&var=F17L	deleterious_low_confidence(0.01)				YES	DTX1,missense_variant,p.Phe17Leu,ENST00000257600,NM_004416.2;DTX1,downstream_gene_variant,,ENST00000548759,;RPS15AP32,downstream_gene_variant,,ENST00000460336,;							MODERATE	51/1863	F17L	DTX1_HUMAN			Transcript		benign(0.153)	.	ENSP00000257600		CCDS9164.1			1	
FGFR1	0	LGGM	GRCh37	8	38271456	38271456	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	7	2	.	.	ENST00000425967.3:c.2365G>C	p.Val789Leu	p.V789L	ENST00000425967	NM_001174067.1	789	Gtg/Ctg	0	1		UPI00000534B8	0	getma.org/pdb.php?prot=FGFR1_HUMAN&from=478&to=767&var=V758L	ENST00000447712		ENSG00000077782	3688		9	-0.825		HGNC	p.V669L		FGFR1		SNV			1				ENST00000356207	protein_coding	getma.org/?cm=var&var=hg19,8,38271456,C,G&fts=all		PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131		V/L		G	neutral	3214/5900		getma.org/?cm=msa&ty=f&p=FGFR1_HUMAN&rb=478&re=767&var=V758L	tolerated(1)	E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,missense_variant,p.Val758Leu,ENST00000341462,;FGFR1,missense_variant,p.Val758Leu,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,missense_variant,p.Val756Leu,ENST00000397091,;FGFR1,missense_variant,p.Val756Leu,ENST00000532791,;FGFR1,missense_variant,p.Val789Leu,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Val748Leu,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Val669Leu,ENST00000356207,NM_023105.2;FGFR1,missense_variant,p.Val667Leu,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Val756Leu,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,missense_variant,p.Val669Leu,ENST00000397103,;FGFR1,missense_variant,p.Val756Leu,ENST00000397108,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526688,;FGFR1,3_prime_UTR_variant,,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;LETM2,downstream_gene_variant,,ENST00000523268,NM_001286787.1,NM_001199660.2;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000524528,;							MODERATE	2272/2469	V758L	FGFR1_HUMAN			Transcript		benign(0.002)	.	ENSP00000400162		CCDS6107.2			1	
GRIK4	0	LGGM	GRCh37	11	120769311	120769311	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	8	2	.	.	ENST00000527524.2:c.1235C>A	p.Thr412Asn	p.T412N	ENST00000527524	NM_001282470.1	412	aCt/aAt	0	1		UPI000013DB8D	0	NA	ENST00000438375		ENSG00000149403	4582		10	0.9		HGNC	p.T412N		GRIK4		SNV							ENST00000527524	protein_coding	getma.org/?cm=var&var=hg19,11,120769311,C,A&fts=all		Gene3D:3.40.190.10,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966		T/N		A	low	1577/4214		getma.org/?cm=msa&ty=f&p=GRIK4_HUMAN&rb=383&re=426&var=T412N	tolerated(0.12)					GRIK4,missense_variant,p.Thr412Asn,ENST00000527524,NM_001282470.1;GRIK4,missense_variant,p.Thr412Asn,ENST00000438375,NM_014619.2;RP11-640N11.2,upstream_gene_variant,,ENST00000505153,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;							MODERATE	1235/2871	T412N	GRIK4_HUMAN			Transcript		benign(0.001)	.	ENSP00000404063		CCDS8433.1			1	
MYH6	0	LGGM	GRCh37	14	23873510	23873510	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	45	3	.	.	ENST00000405093.3:c.730C>A	p.Arg244Ser	p.R244S	ENST00000405093	NM_002471.3	244	Cgc/Agc	0	1		UPI0000160969	0	getma.org/pdb.php?prot=MYH6_HUMAN&from=87&to=768&var=R244S	ENST00000356287		ENSG00000197616	7576		48	5.185		HGNC	p.R244S		MYH6		SNV			1				ENST00000405093	protein_coding	getma.org/?cm=var&var=hg19,14,23873510,G,T&fts=all		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/S		T	high	760/5871		getma.org/?cm=msa&ty=f&p=MYH6_HUMAN&rb=87&re=768&var=R244S	deleterious(0)	Q9UQV1_HUMAN,A8CLL2_HUMAN				MYH6,missense_variant,p.Arg244Ser,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Arg244Ser,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;							MODERATE	730/5820	R244S	MYH6_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000348634		CCDS9600.1			1	
GPR75	0	LGGM	GRCh37	2	54081095	54081095	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	24	3	.	.	ENST00000394705.2:c.799G>A	p.Ala267Thr	p.A267T	ENST00000394705	NM_006794.3	267	Gcc/Acc	0	1	1	UPI0000050454	0		ENST00000394705		ENSG00000119737	4526		27			HGNC	p.A267T		GPR75		SNV							ENST00000394705	protein_coding			Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF7		A/T		T		1070/2115			tolerated(0.43)				YES	GPR75,missense_variant,p.Ala267Thr,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,;							MODERATE	799/1623		GPR75_HUMAN			Transcript		benign(0.001)	.	ENSP00000378195		CCDS1849.1			1	
ATF2	0	LGGM	GRCh37	2	175986186	175986186	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	34	3	.	.	ENST00000264110.2:c.185G>C	p.Ser62Thr	p.S62T	ENST00000264110	NM_001256091.1	62	aGt/aCt	0	1	1	UPI000013D4BE	0	NA	ENST00000264110		ENSG00000115966	784		37	1.295		HGNC	p.S44T		ATF2		SNV							ENST00000487334	protein_coding	getma.org/?cm=var&var=hg19,2,175986186,C,G&fts=all		hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF9,PIRSF_domain:PIRSF003153		S/T		G	low	484/4176		getma.org/?cm=msa&ty=f&p=ATF2_HUMAN&rb=1&re=200&var=S62T	tolerated(0.07)	F5H629_HUMAN,E9PBF9_HUMAN,B3KY57_HUMAN			YES	ATF2,missense_variant,p.Ser62Thr,ENST00000264110,NM_001256091.1,NM_001256090.1,NM_001880.3;ATF2,missense_variant,p.Ser44Thr,ENST00000409437,;ATF2,missense_variant,p.Ser44Thr,ENST00000538946,;ATF2,missense_variant,p.Ser44Thr,ENST00000487334,;ATF2,missense_variant,p.Ser62Thr,ENST00000392544,;ATF2,missense_variant,p.Ser44Thr,ENST00000426833,;ATF2,missense_variant,p.Ser62Thr,ENST00000409833,NM_001256094.1;ATF2,missense_variant,p.Ser51Thr,ENST00000435004,;ATF2,intron_variant,,ENST00000345739,NM_001256093.1,NM_001256092.1;ATF2,intron_variant,,ENST00000409635,;ATF2,intron_variant,,ENST00000437522,;ATF2,intron_variant,,ENST00000409499,;ATF2,intron_variant,,ENST00000392543,;ATF2,missense_variant,p.Ser62Thr,ENST00000417080,;ATF2,missense_variant,p.Ser62Thr,ENST00000429579,;ATF2,missense_variant,p.Ser62Thr,ENST00000428760,;ATF2,missense_variant,p.Ser62Thr,ENST00000421438,;ATF2,intron_variant,,ENST00000415955,;ATF2,intron_variant,,ENST00000456655,;ATF2,intron_variant,,ENST00000435231,;							MODERATE	185/1518	S62T	ATF2_HUMAN			Transcript		benign(0.01)	.	ENSP00000264110		CCDS2262.1			1	
FASLG	0	LGGM	GRCh37	1	172628636	172628636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	22	3	.	.	ENST00000367721.2:c.295C>A	p.Leu99Met	p.L99M	ENST00000367721	NM_000639.1	99	Ctg/Atg	0	1	1	UPI000000D91A	0	NA	ENST00000367721		ENSG00000117560	11936		25	0.975		HGNC	p.L99M		FASLG		SNV			1				ENST00000340030	protein_coding	getma.org/?cm=var&var=hg19,1,172628636,C,A&fts=all		Prints_domain:PR01681,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF30,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/M		A	low	479/1888		getma.org/?cm=msa&ty=f&p=TNFL6_HUMAN&rb=1&re=159&var=L99M	tolerated(0.07)	Q53ZZ1_HUMAN			YES	FASLG,missense_variant,p.Leu99Met,ENST00000367721,NM_000639.1;FASLG,missense_variant,p.Leu99Met,ENST00000340030,;							MODERATE	295/846	L99M	TNFL6_HUMAN			Transcript		benign(0.077)	.	ENSP00000356694		CCDS1304.1			1	
MRPL16	0	LGGM	GRCh37	11	59574107	59574107	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	33	3	.	.	ENST00000300151.4:c.469G>T	p.Gly157Cys	p.G157C	ENST00000300151	NM_017840.3	157	Ggc/Tgc	0	1	1	UPI0000073D9D	0	getma.org/pdb.php?prot=RM16_HUMAN&from=51&to=191&var=G157C	ENST00000300151		ENSG00000166902	14476		36	3.625		HGNC	p.G54C		MRPL16		SNV							ENST00000534340	protein_coding	getma.org/?cm=var&var=hg19,11,59574107,C,A&fts=all		Gene3D:3.90.1170.10,Pfam_domain:PF00252,Prints_domain:PR00060,hmmpanther:PTHR12220,hmmpanther:PTHR12220:SF13,Superfamily_domains:SSF54686		G/C		A	high	683/1182		getma.org/?cm=msa&ty=f&p=RM16_HUMAN&rb=51&re=191&var=G157C	deleterious(0)	E9PI14_HUMAN			YES	MRPL16,missense_variant,p.Gly157Cys,ENST00000300151,NM_017840.3;MRPL16,missense_variant,p.Gly54Cys,ENST00000534340,;STX3,downstream_gene_variant,,ENST00000535361,;STX3,downstream_gene_variant,,ENST00000337979,NM_001178040.1,NM_004177.4;STX3,downstream_gene_variant,,ENST00000300150,;MRPL16,downstream_gene_variant,,ENST00000525470,;MRPL16,downstream_gene_variant,,ENST00000531802,;							MODERATE	469/756	G157C	RM16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000300151		CCDS7976.1			1	
DENND4B	0	LGGM	GRCh37	1	153915414	153915414	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	27	3	.	.	ENST00000361217.4:c.510T>C	p.Ser170=	p.S170=	ENST00000361217	NM_014856.2	170	agT/agC	0	1	1	UPI000047EA3E	0		ENST00000361217		ENSG00000198837	29044		30			HGNC	p.S181S		DENND4B		SNV							ENST00000368646	protein_coding			PROSITE_profiles:PS51498,hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF18		S		G		929/5706							YES	DENND4B,synonymous_variant,p.=,ENST00000361217,NM_014856.2;DENND4B,synonymous_variant,p.=,ENST00000368646,;DENND4B,synonymous_variant,p.=,ENST00000472932,;CRTC2,downstream_gene_variant,,ENST00000368633,NM_181715.2;CRTC2,downstream_gene_variant,,ENST00000368630,;DENND4B,non_coding_transcript_exon_variant,,ENST00000464048,;CRTC2,downstream_gene_variant,,ENST00000461638,;CRTC2,downstream_gene_variant,,ENST00000303569,;CRTC2,downstream_gene_variant,,ENST00000487235,;DENND4B,upstream_gene_variant,,ENST00000485359,;DENND4B,upstream_gene_variant,,ENST00000483561,;DENND4B,upstream_gene_variant,,ENST00000494683,;							LOW	510/4491		DEN4B_HUMAN			Transcript			.	ENSP00000354597		CCDS44228.1			1	
ADARB2	0	LGGM	GRCh37	10	1405881	1405881	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	8	3	.	.	ENST00000381312.1:c.419T>C	p.Leu140Pro	p.L140P	ENST00000381312	NM_018702.3	140	cTg/cCg	0	1	1	UPI0000071776	0	getma.org/pdb.php?prot=RED2_HUMAN&from=126&to=189&var=L140P	ENST00000381312		ENSG00000185736	227		11	0.375		HGNC	p.L140P		ADARB2		SNV							ENST00000381312	protein_coding	getma.org/?cm=var&var=hg19,10,1405881,A,G&fts=all		PROSITE_profiles:PS50137,hmmpanther:PTHR10910:SF17,hmmpanther:PTHR10910,Pfam_domain:PF00035,Gene3D:3.30.160.20,SMART_domains:SM00358,Superfamily_domains:SSF54768		L/P		G	neutral	745/3606		getma.org/?cm=msa&ty=f&p=RED2_HUMAN&rb=126&re=189&var=L140P	deleterious(0.02)	Q5VW43_HUMAN			YES	ADARB2,missense_variant,p.Leu140Pro,ENST00000381312,NM_018702.3;RP11-398B16.2,upstream_gene_variant,,ENST00000432987,;							MODERATE	419/2220	L140P	RED2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370713		CCDS7058.1			1	
GOLGA6B	0	LGGM	GRCh37	15	72957336	72957336	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	10	3	.	.	ENST00000421285.3:c.1553C>T	p.Thr518Met	p.T518M	ENST00000421285	NM_018652.4	518	aCg/aTg	0	1	1	UPI0000D74C4D	0	NA	ENST00000421285		ENSG00000215186	32205	0.00226	13	-2.35		HGNC	p.T518M	rs375760736	GOLGA6B	0.00101	SNV	T:0.0004			0.00147			ENST00000421285	protein_coding	getma.org/?cm=var&var=hg19,15,72957336,C,T&fts=all		Pfam_domain:PF15070,hmmpanther:PTHR10881		T/M	T:0	T	neutral	1553/2134	9.19E-05	getma.org/?cm=msa&ty=f&p=GOG6B_HUMAN&rb=1&re=691&var=T518M	tolerated(1)				YES	GOLGA6B,missense_variant,p.Thr518Met,ENST00000421285,NM_018652.4;RN7SL853P,downstream_gene_variant,,ENST00000477951,;GOLGA6B,downstream_gene_variant,,ENST00000568532,;	0.000567						MODERATE	1553/2082	T518M	GOG6B_HUMAN			Transcript		benign(0.007)	common_variant	ENSP00000408132	0.000229	CCDS10245.2			1	
RHOT2	0	LGGM	GRCh37	16	720290	720290	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	31	3	.	.	ENST00000315082.4:c.371C>A	p.Ser124Ter	p.S124*	ENST00000315082	NM_138769.2	124	tCg/tAg	0	1	1	UPI000007310B	0	NA	ENST00000315082		ENSG00000140983	21169		34	0		HGNC	p.S124X		RHOT2		SNV							ENST00000315082	protein_coding	getma.org/?cm=var&var=hg19,16,720290,C,A&fts=all		PROSITE_profiles:PS51423,hmmpanther:PTHR24072:SF70,hmmpanther:PTHR24072,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00174,PIRSF_domain:PIRSF037488,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540		S/*		A	NA	485/2539		NA					YES	RHOT2,stop_gained,p.Ser124Ter,ENST00000315082,NM_138769.2;RHOT2,stop_gained,p.Ser124Ter,ENST00000563134,;RHOT2,stop_gained,p.Ser103Ter,ENST00000561929,;WDR90,downstream_gene_variant,,ENST00000549091,NM_145294.4;WDR90,downstream_gene_variant,,ENST00000293879,;WDR90,downstream_gene_variant,,ENST00000547944,;WDR90,downstream_gene_variant,,ENST00000315764,;WDR90,downstream_gene_variant,,ENST00000551100,;RHOT2,upstream_gene_variant,,ENST00000569197,;WDR90,downstream_gene_variant,,ENST00000546896,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569943,;WDR90,downstream_gene_variant,,ENST00000547543,;RHOT2,synonymous_variant,p.=,ENST00000562333,;RHOT2,synonymous_variant,p.=,ENST00000561983,;RHOT2,3_prime_UTR_variant,,ENST00000563637,;RHOT2,3_prime_UTR_variant,,ENST00000570280,;RHOT2,3_prime_UTR_variant,,ENST00000566214,;RHOT2,non_coding_transcript_exon_variant,,ENST00000602564,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568636,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569675,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568950,;RHOT2,non_coding_transcript_exon_variant,,ENST00000567017,;RHOT2,non_coding_transcript_exon_variant,,ENST00000563776,;RHOT2,non_coding_transcript_exon_variant,,ENST00000566965,;RHOT2,non_coding_transcript_exon_variant,,ENST00000570092,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562708,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562598,;WDR90,downstream_gene_variant,,ENST00000547407,;WDR90,downstream_gene_variant,,ENST00000552728,;WDR90,downstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000553080,;RHOT2,upstream_gene_variant,,ENST00000569358,;RHOT2,upstream_gene_variant,,ENST00000565004,;RHOT2,upstream_gene_variant,,ENST00000564659,;RHOT2,upstream_gene_variant,,ENST00000561711,;RHOT2,downstream_gene_variant,,ENST00000569706,;RHOT2,upstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000562957,;WDR90,downstream_gene_variant,,ENST00000548448,;							HIGH	371/1857	S124*	MIRO2_HUMAN			Transcript			.	ENSP00000321971		CCDS10417.1			1	
TEX2	0	LGGM	GRCh37	17	62265731	62265731	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	33	3	.	.	ENST00000258991.3:c.2242C>A	p.Leu748Met	p.L748M	ENST00000258991	NM_001288732.1	748	Ctg/Atg	0	1		UPI0000201266	0	NA	ENST00000583097		ENSG00000136478	30884		36	2.215		HGNC	p.L741M		TEX2		SNV							ENST00000584379	protein_coding	getma.org/?cm=var&var=hg19,17,62265731,G,T&fts=all		hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2		L/M		T	medium	2394/4852		getma.org/?cm=msa&ty=f&p=TEX2_HUMAN&rb=582&re=781&var=L741M	tolerated(0.13)	Q9NX99_HUMAN,Q7Z2T6_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN				TEX2,missense_variant,p.Leu748Met,ENST00000258991,NM_001288732.1,NM_001288733.1;TEX2,missense_variant,p.Leu741Met,ENST00000583097,;TEX2,missense_variant,p.Leu741Met,ENST00000584379,NM_018469.3;TEX2,missense_variant,p.Leu242Met,ENST00000583501,;TEX2,non_coding_transcript_exon_variant,,ENST00000577489,;							MODERATE	2221/3384	L741M	TEX2_HUMAN			Transcript		benign(0.165)	.	ENSP00000462665					1	
ZNF263	0	LGGM	GRCh37	16	3339872	3339872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	34	3	.	.	ENST00000219069.5:c.1366C>A	p.His456Asn	p.H456N	ENST00000219069	NM_005741.4	456	Cac/Aac	0	1	1	UPI000013C33A	0	getma.org/pdb.php?prot=ZN263_HUMAN&from=448&to=473&var=H456N	ENST00000219069		ENSG00000006194	13056		37	3.33		HGNC	p.H456N		ZNF263		SNV							ENST00000219069	protein_coding	getma.org/?cm=var&var=hg19,16,3339872,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF50,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/N		A	medium	2242/3830		getma.org/?cm=msa&ty=f&p=ZN263_HUMAN&rb=428&re=493&var=H456N	deleterious(0)	B4DI05_HUMAN			YES	ZNF263,missense_variant,p.His456Asn,ENST00000219069,NM_005741.4;ZNF263,missense_variant,p.His104Asn,ENST00000538765,;ZNF263,3_prime_UTR_variant,,ENST00000575823,;ZNF263,upstream_gene_variant,,ENST00000575332,;ZNF263,downstream_gene_variant,,ENST00000573578,;ZNF263,downstream_gene_variant,,ENST00000574253,;ZNF263,downstream_gene_variant,,ENST00000572748,;ZNF263,upstream_gene_variant,,ENST00000574674,;							MODERATE	1366/2052	H456N	ZN263_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000219069		CCDS10499.1			1	
THEM5	0	LGGM	GRCh37	1	151820256	151820256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	43	3	.	.	ENST00000368817.5:c.658G>T	p.Ala220Ser	p.A220S	ENST00000368817	NM_182578.3	220	Gcc/Tcc	0	1	1	UPI000013E246	0	getma.org/pdb.php?prot=THEM5_HUMAN&from=154&to=229&var=A220S	ENST00000368817		ENSG00000196407	26755		46	1.845		HGNC	p.A220S		THEM5		SNV							ENST00000368817	protein_coding	getma.org/?cm=var&var=hg19,1,151820256,C,A&fts=all		Gene3D:3.10.129.10,Pfam_domain:PF03061,hmmpanther:PTHR12418,hmmpanther:PTHR12418:SF9,Superfamily_domains:SSF54637		A/S		A	low	790/984		getma.org/?cm=msa&ty=f&p=THEM5_HUMAN&rb=154&re=229&var=A220S	deleterious(0.01)				YES	THEM5,missense_variant,p.Ala220Ser,ENST00000368817,NM_182578.3;THEM5,intron_variant,,ENST00000453881,;AL450992.2,intron_variant,,ENST00000434182,;							MODERATE	658/744	A220S	ACO15_HUMAN			Transcript		possibly_damaging(0.767)	.	ENSP00000357807		CCDS1005.1			1	
PTCHD1	0	LGGM	GRCh37	X	23398247	23398247	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	36	3	.	.	ENST00000379361.4:c.891C>A	p.Pro297=	p.P297=	ENST00000379361	NM_173495.2	297	ccC/ccA	0	1	1	UPI000059DAD8	0		ENST00000379361		ENSG00000165186	26392		39			HGNC	p.P297P		PTCHD1		SNV			1				ENST00000379361	protein_coding			Superfamily_domains:SSF82866,Pfam_domain:PF02460,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36,PROSITE_profiles:PS50156,Transmembrane_helices:TMhelix		P		A		1751/13714							YES	PTCHD1,synonymous_variant,p.=,ENST00000379361,NM_173495.2;PTCHD1,intron_variant,,ENST00000456522,;							LOW	891/2667		PTHD1_HUMAN			Transcript			.	ENSP00000368666		CCDS35215.2			1	
SPEN	0	LGGM	GRCh37	1	16262574	16262574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	24	3	.	.	ENST00000375759.3:c.9839G>T	p.Gly3280Val	p.G3280V	ENST00000375759	NM_015001.2	3280	gGg/gTg	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		27	2.015		HGNC	p.G3280V		SPEN		SNV							ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16262574,G,T&fts=all		hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189		G/V		T	medium	10043/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=2791&re=3489&var=G3280V					YES	SPEN,missense_variant,p.Gly3280Val,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,;							MODERATE	9839/10995	G3280V	MINT_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000364912		CCDS164.1			1	
PIK3C2B	0	LGGM	GRCh37	1	204429785	204429785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	40	3	.	.	ENST00000367187.3:c.1315C>A	p.His439Asn	p.H439N	ENST00000367187	NM_002646.3	439	Cat/Aat	0	1	1	UPI00002056D1	0	NA	ENST00000367187		ENSG00000133056	8972		43	1.59		HGNC	p.H439N		PIK3C2B		SNV							ENST00000367187	protein_coding	getma.org/?cm=var&var=hg19,1,204429785,G,T&fts=all		Gene3D:3.10.20.90,Pfam_domain:PF00794,PROSITE_profiles:PS51546,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30,SMART_domains:SM00144,Superfamily_domains:SSF54236		H/N		T	low	1872/7686		getma.org/?cm=msa&ty=f&p=P3C2B_HUMAN&rb=364&re=466&var=H439N	deleterious(0.04)	Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN			YES	PIK3C2B,missense_variant,p.His439Asn,ENST00000367187,NM_002646.3;PIK3C2B,missense_variant,p.His439Asn,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000367184,;PIK3C2B,upstream_gene_variant,,ENST00000496872,;							MODERATE	1315/4905	H439N	P3C2B_HUMAN			Transcript		benign(0.16)	.	ENSP00000356155		CCDS1446.1			1	
GUCY2D	0	LGGM	GRCh37	17	7907334	7907334	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	40	3	.	.	ENST00000254854.4:c.886G>T	p.Ala296Ser	p.A296S	ENST00000254854	NM_000180.3	296	Gcc/Tcc	0	1	1	UPI0000128C1C	0	NA	ENST00000254854		ENSG00000132518	4689		43	1.67		HGNC	p.A296S		GUCY2D		SNV			1				ENST00000254854	protein_coding	getma.org/?cm=var&var=hg19,17,7907334,G,T&fts=all		hmmpanther:PTHR11920:SF228,hmmpanther:PTHR11920,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		A/S		T	low	1036/3698		getma.org/?cm=msa&ty=f&p=GUC2D_HUMAN&rb=72&re=400&var=A296S	tolerated(0.37)				YES	GUCY2D,missense_variant,p.Ala296Ser,ENST00000254854,NM_000180.3;							MODERATE	886/3312	A296S	GUC2D_HUMAN			Transcript		benign(0.049)	.	ENSP00000254854		CCDS11127.1			1	
IL22RA1	0	LGGM	GRCh37	1	24447386	24447386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	29	3	.	.	ENST00000270800.1:c.1634G>T	p.Ser545Ile	p.S545I	ENST00000270800	NM_021258.3	545	aGc/aTc	0	1	1	UPI0000071143	0	NA	ENST00000270800		ENSG00000142677	13700		32	0.805		HGNC	p.S545I		IL22RA1		SNV							ENST00000270800	protein_coding	getma.org/?cm=var&var=hg19,1,24447386,C,A&fts=all				S/I		A	low	1673/2798		getma.org/?cm=msa&ty=f&p=I22R1_HUMAN&rb=415&re=574&var=S545I	tolerated(0.11)				YES	IL22RA1,missense_variant,p.Ser545Ile,ENST00000270800,NM_021258.3;							MODERATE	1634/1725	S545I	I22R1_HUMAN			Transcript		benign(0.231)	.	ENSP00000270800		CCDS247.1			1	
GPR161	0	LGGM	GRCh37	1	168066335	168066335	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	34	3	.	.	ENST00000537209.1:c.570G>T	p.Glu190Asp	p.E190D	ENST00000537209	NM_001267609.1	190	gaG/gaT	0	1		UPI00000725FD	0	getma.org/pdb.php?prot=GP161_HUMAN&from=44&to=324&var=E170D	ENST00000367835		ENSG00000143147	23694		37	1.58		HGNC	p.E190D		GPR161		SNV			1				ENST00000537209	protein_coding	getma.org/?cm=var&var=hg19,1,168066335,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF246,Superfamily_domains:SSF81321		E/D		A	low	1067/2400		getma.org/?cm=msa&ty=f&p=GP161_HUMAN&rb=44&re=324&var=E170D	tolerated(0.11)					GPR161,missense_variant,p.Glu170Asp,ENST00000367838,NM_153832.2,NM_001267611.1;GPR161,missense_variant,p.Glu170Asp,ENST00000271357,;GPR161,missense_variant,p.Glu170Asp,ENST00000367835,NM_001267610.1;GPR161,missense_variant,p.Glu170Asp,ENST00000361697,;GPR161,missense_variant,p.Glu190Asp,ENST00000537209,NM_001267609.1;GPR161,missense_variant,p.Glu38Asp,ENST00000367836,NM_001267612.1;GPR161,missense_variant,p.Glu92Asp,ENST00000539777,NM_001267613.1;GPR161,missense_variant,p.Glu56Asp,ENST00000546300,NM_001267614.1;GPR161,non_coding_transcript_exon_variant,,ENST00000493800,;							MODERATE	510/1590	E170D	GP161_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000356809		CCDS1268.1			1	
RAI14	0	LGGM	GRCh37	5	34811977	34811977	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	45	3	.	.	ENST00000515799.1:c.672C>A	p.Ala224=	p.A224=	ENST00000515799	NM_001145525.1	224	gcC/gcA	0	1		UPI000013F319	0		ENST00000265109		ENSG00000039560	14873		48			HGNC	p.A213A		RAI14		SNV							ENST00000506376	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24129,SMART_domains:SM00248,Superfamily_domains:SSF48403		A		A		950/5092				D6RF74_HUMAN,D6REL2_HUMAN,D6RE17_HUMAN,D6RBY4_HUMAN,D6RB27_HUMAN,D6RB25_HUMAN,D6R9G6_HUMAN,D6R9G4_HUMAN,B3KMZ9_HUMAN				RAI14,synonymous_variant,p.=,ENST00000265109,NM_015577.2,NM_001145522.1;RAI14,synonymous_variant,p.=,ENST00000428746,NM_001145520.1;RAI14,synonymous_variant,p.=,ENST00000397449,;RAI14,synonymous_variant,p.=,ENST00000515799,NM_001145525.1;RAI14,synonymous_variant,p.=,ENST00000503673,NM_001145521.1;RAI14,synonymous_variant,p.=,ENST00000506376,NM_001145523.1;RAI14,synonymous_variant,p.=,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,;							LOW	663/2943		RAI14_HUMAN			Transcript			.	ENSP00000265109		CCDS34142.1			1	
PCDHA13	0	LGGM	GRCh37	5	140262535	140262535	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	42	3	.	.	ENST00000289272.2:c.682C>A	p.Leu228Met	p.L228M	ENST00000289272	NM_018904.2	228	Ctg/Atg	0	1	1	UPI00001273D6	0	NA	ENST00000289272		ENSG00000239389	8667		45	3.575		HGNC	p.L228M		PCDHA13		SNV							ENST00000409494	protein_coding	getma.org/?cm=var&var=hg19,5,140262535,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101,SMART_domains:SM00112,Superfamily_domains:SSF49313		L/M		A	high	682/5260		getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=138&re=233&var=L228M	deleterious_low_confidence(0.01)				YES	PCDHA13,missense_variant,p.Leu228Met,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Leu228Met,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;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,;							MODERATE	682/2853	L228M	PCDAD_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000289272		CCDS4240.1			1	
KLHDC8A	0	LGGM	GRCh37	1	205308922	205308922	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	25	3	.	.	ENST00000367156.3:c.391G>T	p.Ala131Ser	p.A131S	ENST00000367156	NM_001271863.1	131	Gcg/Tcg	0	1		UPI00000728EF	0	NA	ENST00000367155		ENSG00000162873	25573		28	2.265		HGNC	p.A131S		KLHDC8A		SNV							ENST00000367155	protein_coding	getma.org/?cm=var&var=hg19,1,205308922,C,A&fts=all		Superfamily_domains:0047741,Superfamily_domains:0052715,Gene3D:1zgkA00,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF123,SMART_domains:SM00612		A/S		A	medium	959/2928		getma.org/?cm=msa&ty=f&p=KLD8A_HUMAN&rb=115&re=163&var=A131S	deleterious(0.01)	U3KQK4_HUMAN,U3KQI4_HUMAN,U3KQH1_HUMAN,U3KQC2_HUMAN,U3KPX9_HUMAN,U3KPW1_HUMAN				KLHDC8A,missense_variant,p.Ala131Ser,ENST00000367156,NM_001271863.1,NM_001271865.1;KLHDC8A,missense_variant,p.Ala131Ser,ENST00000367155,NM_018203.2,NM_001271864.1;KLHDC8A,missense_variant,p.Ala131Ser,ENST00000539253,;KLHDC8A,missense_variant,p.Ala18Ser,ENST00000537168,;KLHDC8A,5_prime_UTR_variant,,ENST00000460687,;KLHDC8A,5_prime_UTR_variant,,ENST00000606181,;KLHDC8A,downstream_gene_variant,,ENST00000491471,;KLHDC8A,downstream_gene_variant,,ENST00000606887,;KLHDC8A,downstream_gene_variant,,ENST00000607173,;KLHDC8A,downstream_gene_variant,,ENST00000607826,;KLHDC8A,downstream_gene_variant,,ENST00000607193,;KLHDC8A,downstream_gene_variant,,ENST00000606529,;KLHDC8A,downstream_gene_variant,,ENST00000606111,;							MODERATE	391/1053	A131S	KLD8A_HUMAN			Transcript		possibly_damaging(0.596)	.	ENSP00000356123		CCDS30985.1			1	
TFPI	0	LGGM	GRCh37	2	188331663	188331663	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	12	3	.	.	ENST00000233156.3:c.915A>C	p.Ter305CysextTer27	p.*305Cext*27	ENST00000233156	NM_006287.4	305	tgA/tgC	0	1	1	UPI0000136C8F	0		ENST00000233156		ENSG00000003436	11760		15			HGNC	p.X305C		TFPI		SNV							ENST00000233156	protein_coding					*/C		G		1210/3913				C9JT76_HUMAN,C9JQ14_HUMAN,C9JP39_HUMAN,C9JBB3_HUMAN,C9J103_HUMAN			YES	TFPI,stop_lost,p.Ter305CysextTer27,ENST00000233156,NM_006287.4;TFPI,stop_lost,p.Ter305CysextTer27,ENST00000392365,;TFPI,downstream_gene_variant,,ENST00000426055,;TFPI,downstream_gene_variant,,ENST00000435414,;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;TFPI,downstream_gene_variant,,ENST00000481132,;							HIGH	915/915		TFPI1_HUMAN			Transcript			.	ENSP00000233156		CCDS2294.1			1	
PLEKHH1	0	LGGM	GRCh37	14	68042620	68042620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	27	3	.	.	ENST00000329153.5:c.2250G>T	p.Glu750Asp	p.E750D	ENST00000329153	NM_020715.2	750	gaG/gaT	0	1	1	UPI00001C1F64	0	getma.org/pdb.php?prot=PKHH1_HUMAN&from=687&to=796&var=E750D	ENST00000329153		ENSG00000054690	17733		30	1.29		HGNC	p.E750D		PLEKHH1		SNV							ENST00000329153	protein_coding	getma.org/?cm=var&var=hg19,14,68042620,G,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22903:SF4,hmmpanther:PTHR22903,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		E/D		T	low	2382/6604		getma.org/?cm=msa&ty=f&p=PKHH1_HUMAN&rb=687&re=796&var=E750D	tolerated(0.07)	B3KWD2_HUMAN			YES	PLEKHH1,missense_variant,p.Glu750Asp,ENST00000329153,NM_020715.2;PLEKHH1,upstream_gene_variant,,ENST00000417684,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000557971,;PLEKHH1,non_coding_transcript_exon_variant,,ENST00000558386,;PLEKHH1,downstream_gene_variant,,ENST00000558981,;PLEKHH1,upstream_gene_variant,,ENST00000561370,;PLEKHH1,upstream_gene_variant,,ENST00000560100,;PLEKHH1,upstream_gene_variant,,ENST00000558296,;PLEKHH1,downstream_gene_variant,,ENST00000561456,;PLEKHH1,upstream_gene_variant,,ENST00000558366,;PLEKHH1,downstream_gene_variant,,ENST00000561135,;							MODERATE	2250/4095	E750D	PKHH1_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000330278		CCDS45128.1			1	
DOCK1	0	LGGM	GRCh37	10	129216781	129216781	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	40	3	.	.	ENST00000280333.6:c.4605G>T	p.Met1535Ile	p.M1535I	ENST00000280333	NM_001380.3	1535	atG/atT	0	1	1	UPI0000246CA1	0	getma.org/pdb.php?prot=DOCK1_HUMAN&from=1426&to=1610&var=M1535I	ENST00000280333		ENSG00000150760	2987		43	3.18		HGNC	p.M1535I		DOCK1		SNV							ENST00000280333	protein_coding	getma.org/?cm=var&var=hg19,10,129216781,G,T&fts=all		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Pfam_domain:PF06920		M/I		T	medium	4714/6797		getma.org/?cm=msa&ty=f&p=DOCK1_HUMAN&rb=1426&re=1610&var=M1535I	deleterious(0)				YES	DOCK1,missense_variant,p.Met1535Ile,ENST00000280333,NM_001380.3;							MODERATE	4605/5598	M1535I	DOCK1_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000280333					1	
PRKDC	0	LGGM	GRCh37	8	48841683	48841683	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	21	3	.	.	ENST00000314191.2:c.2108G>T	p.Cys703Phe	p.C703F	ENST00000314191	NM_006904.6	703	tGc/tTc	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		24			HGNC	p.C703F		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54		C/F		A		2165/13506				F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Cys703Phe,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Cys703Phe,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,non_coding_transcript_exon_variant,,ENST00000541488,;							MODERATE	2108/12384		PRKDC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000313420					1	
C11orf82	0	LGGM	GRCh37	11	82644688	82644688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	41	3	.	.	ENST00000533655.1:c.2308C>A	p.Pro770Thr	p.P770T	ENST00000533655	NM_145018.3	770	Cca/Aca	0	1		UPI00017A75E5	0	NA	ENST00000329143		ENSG00000165490	26351		44	1.995		HGNC	p.P469T		C11orf82		SNV							ENST00000329143	protein_coding	getma.org/?cm=var&var=hg19,11,82644688,C,A&fts=all				P/T		A	medium	2078/3087		getma.org/?cm=msa&ty=f&p=NOXIN_HUMAN&rb=131&re=996&var=P770T		B4DMA1_HUMAN				C11orf82,missense_variant,p.Pro770Thr,ENST00000533655,NM_145018.3;C11orf82,missense_variant,p.Pro770Thr,ENST00000430323,;C11orf82,missense_variant,p.Pro469Thr,ENST00000329143,;C11orf82,3_prime_UTR_variant,,ENST00000528759,;C11orf82,intron_variant,,ENST00000525361,;PRCP,intron_variant,,ENST00000534396,;C11orf82,downstream_gene_variant,,ENST00000525388,;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,;							MODERATE	1405/2094	P770T				Transcript		probably_damaging(1)	.	ENSP00000329930					1	
LSR	0	LGGM	GRCh37	19	35753607	35753607	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	9	3	.	.	ENST00000361790.3:c.922+12G>A		*308*	ENST00000361790	NM_205834.3			0	1	1	UPI000003117A	0		ENST00000361790		ENSG00000105699	29572		12			HGNC	p.A198T	rs370045920	LSR	0.000499	SNV	A:0.0005			0.000291			ENST00000597933	protein_coding						A:0	A		-/2210							YES	LSR,intron_variant,,ENST00000602122,;LSR,intron_variant,,ENST00000361790,NM_205834.3;LSR,intron_variant,,ENST00000354900,NM_015925.6,NM_001260489.1;LSR,intron_variant,,ENST00000360798,NM_205835.3;LSR,intron_variant,,ENST00000347609,;LSR,intron_variant,,ENST00000605618,NM_001260490.1;LSR,intron_variant,,ENST00000427250,;LSR,intron_variant,,ENST00000599658,;LSR,downstream_gene_variant,,ENST00000601623,;AD000684.2,upstream_gene_variant,,ENST00000602262,;LSR,non_coding_transcript_exon_variant,,ENST00000597933,;LSR,downstream_gene_variant,,ENST00000602044,;LSR,upstream_gene_variant,,ENST00000597446,;							MODIFIER	-/1950		LSR_HUMAN			Transcript			common_variant	ENSP00000354575	9.06E-05	CCDS12450.1			1	
DTX3	0	LGGM	GRCh37	12	58001385	58001385	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	39	3	.	.	ENST00000548198.1:c.739G>T	p.Gly247Cys	p.G247C	ENST00000548198		247	Ggt/Tgt	0	1		UPI00000437C5	0	getma.org/pdb.php?prot=DTX3_HUMAN&from=205&to=347&var=G247C	ENST00000337737		ENSG00000178498	24457		42	2.635		HGNC	p.G247C		DTX3		SNV							ENST00000548804	protein_coding	getma.org/?cm=var&var=hg19,12,58001385,G,T&fts=all		hmmpanther:PTHR12622		G/C		T	medium	1076/2029		getma.org/?cm=msa&ty=f&p=DTX3_HUMAN&rb=205&re=347&var=G247C	deleterious(0)	F8VV96_HUMAN				DTX3,missense_variant,p.Gly247Cys,ENST00000548198,;DTX3,missense_variant,p.Gly247Cys,ENST00000548804,NM_001286246.1;DTX3,missense_variant,p.Gly247Cys,ENST00000337737,NM_178502.2;DTX3,missense_variant,p.Gly250Cys,ENST00000551632,NM_001286245.1;DTX3,missense_variant,p.Gly35Cys,ENST00000550300,;PIP4K2C,downstream_gene_variant,,ENST00000354947,;PIP4K2C,downstream_gene_variant,,ENST00000540759,NM_001146259.1,NM_001146258.1,NM_024779.4;ARHGEF25,upstream_gene_variant,,ENST00000286494,NM_182947.3;DTX3,downstream_gene_variant,,ENST00000548478,;ARHGEF25,upstream_gene_variant,,ENST00000333972,NM_001111270.2;DTX3,downstream_gene_variant,,ENST00000549583,;DTX3,downstream_gene_variant,,ENST00000550596,;DTX3,downstream_gene_variant,,ENST00000551835,;AC025165.8,downstream_gene_variant,,ENST00000356672,;AC025165.8,downstream_gene_variant,,ENST00000444467,;							MODERATE	739/1044	G247C	DTX3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000338050		CCDS41800.1			1	
DNAH5	0	LGGM	GRCh37	5	13885314	13885314	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	31	3	.	.	ENST00000265104.4:c.2767G>T	p.Asp923Tyr	p.D923Y	ENST00000265104	NM_001369.2	923	Gac/Tac	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		34	1.1		HGNC	p.D923Y		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13885314,C,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		D/Y		A	low	2872/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=805&re=1004&var=D923Y		O95496_HUMAN			YES	DNAH5,missense_variant,p.Asp923Tyr,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							MODERATE	2767/13875	D923Y	DYH5_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000265104		CCDS3882.1			1	
PANK1	0	LGGM	GRCh37	10	91359245	91359245	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	47	3	.	.	ENST00000307534.4:c.1074G>A	p.Leu358=	p.L358=	ENST00000307534	NM_148977.2	358	ctG/ctA	0	1	1	UPI0000131D49	0		ENST00000307534		ENSG00000152782	8598		50			HGNC	p.L358L	COSM246354	PANK1		SNV						1	ENST00000307534	protein_coding			hmmpanther:PTHR12280,hmmpanther:PTHR12280:SF23,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067,Superfamily_domains:SSF53067		L		T		1230/3367							YES	PANK1,synonymous_variant,p.=,ENST00000307534,NM_148977.2;PANK1,synonymous_variant,p.=,ENST00000371774,;PANK1,synonymous_variant,p.=,ENST00000342512,NM_148978.2;PANK1,synonymous_variant,p.=,ENST00000322191,NM_138316.3;PANK1,non_coding_transcript_exon_variant,,ENST00000461829,;					1		LOW	1074/1797		PANK1_HUMAN			Transcript			.	ENSP00000302108		CCDS31244.1			1	
PDE8B	0	LGGM	GRCh37	5	76722305	76722305	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	33	3	.	.	ENST00000264917.5:c.2584G>T	p.Ala862Ser	p.A862S	ENST00000264917	NM_003719.3	862	Gct/Tct	0	1	1	UPI0000001BBE	0	getma.org/pdb.php?prot=PDE8B_HUMAN&from=614&to=865&var=A862S	ENST00000264917		ENSG00000113231	8794		36	-0.11		HGNC	p.A815S		PDE8B		SNV			1				ENST00000340978	protein_coding	getma.org/?cm=var&var=hg19,5,76722305,G,T&fts=all		Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF98,Superfamily_domains:SSF109604		A/S		T	neutral	2629/5956		getma.org/?cm=msa&ty=f&p=PDE8B_HUMAN&rb=614&re=865&var=A862S	tolerated(0.55)	Q3ZCR2_HUMAN,D6RH10_HUMAN,D6R9W0_HUMAN,B3KN77_HUMAN			YES	PDE8B,missense_variant,p.Ala862Ser,ENST00000264917,NM_003719.3;PDE8B,missense_variant,p.Ala327Ser,ENST00000505283,;PDE8B,missense_variant,p.Ala815Ser,ENST00000340978,NM_001029854.2;PDE8B,missense_variant,p.Ala765Ser,ENST00000346042,NM_001029851.2;PDE8B,missense_variant,p.Ala842Ser,ENST00000342343,NM_001029853.2;PDE8B,missense_variant,p.Ala807Ser,ENST00000333194,NM_001029852.2;WDR41,downstream_gene_variant,,ENST00000296679,NM_018268.2;WDR41,intron_variant,,ENST00000514878,;WDR41,downstream_gene_variant,,ENST00000512033,;WDR41,downstream_gene_variant,,ENST00000508154,;							MODERATE	2584/2658	A862S	PDE8B_HUMAN			Transcript		benign(0.052)	.	ENSP00000264917		CCDS4037.1			1	
SDF4	0	LGGM	GRCh37	1	1154210	1154210	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	27	3	.	.	ENST00000360001.6:c.675C>A	p.Leu225=	p.L225=	ENST00000360001		225	ctC/ctA	0	1	1	UPI0000127156	0		ENST00000360001		ENSG00000078808	24188		30			HGNC	p.P231T		SDF4		SNV							ENST00000465727	protein_coding			Gene3D:1.10.238.10,hmmpanther:PTHR10827,hmmpanther:PTHR10827:SF39,Low_complexity_(Seg):seg,Superfamily_domains:SSF47473		L		T		938/1956							YES	SDF4,synonymous_variant,p.=,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,synonymous_variant,p.=,ENST00000360001,;SDF4,synonymous_variant,p.=,ENST00000403997,;TNFRSF4,upstream_gene_variant,,ENST00000379236,NM_003327.3;SDF4,downstream_gene_variant,,ENST00000545427,;SDF4,missense_variant,p.Pro231Thr,ENST00000465727,;SDF4,non_coding_transcript_exon_variant,,ENST00000494748,;SDF4,non_coding_transcript_exon_variant,,ENST00000478938,;TNFRSF4,upstream_gene_variant,,ENST00000497869,;							LOW	675/1089		CAB45_HUMAN			Transcript			.	ENSP00000353094		CCDS30553.1			1	
TAS1R1	0	LGGM	GRCh37	1	6639454	6639454	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	22	3	.	.	ENST00000333172.6:c.2336C>A	p.Thr779Lys	p.T779K	ENST00000333172	NM_138697.3	779	aCg/aAg	0	1	1	UPI000004737B	0	NA	ENST00000333172		ENSG00000173662	14448		25	2.305		HGNC	p.T525K		TAS1R1		SNV							ENST00000351136	protein_coding	getma.org/?cm=var&var=hg19,1,6639454,C,A&fts=all		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421,Transmembrane_helices:TMhelix		T/K		A	medium	2529/2892		getma.org/?cm=msa&ty=f&p=TS1R1_HUMAN&rb=575&re=815&var=T779K	tolerated(0.06)				YES	TAS1R1,missense_variant,p.Thr779Lys,ENST00000333172,NM_138697.3;TAS1R1,missense_variant,p.Thr525Lys,ENST00000351136,NM_177540.2;TAS1R1,synonymous_variant,p.=,ENST00000415267,;TAS1R1,3_prime_UTR_variant,,ENST00000328191,;TAS1R1,3_prime_UTR_variant,,ENST00000411823,;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,;							MODERATE	2336/2526	T779K	TS1R1_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000331867		CCDS81.1			1	
NSMCE4A	0	LGGM	GRCh37	10	123727252	123727252	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	47	3	.	.	ENST00000369023.3:c.571G>T	p.Glu191Ter	p.E191*	ENST00000369023	NM_001167865.1	191	Gaa/Taa	0	1	1	UPI000013D40C	0	NA	ENST00000369023		ENSG00000107672	25935		50	0		HGNC	p.E32X		NSMCE4A		SNV							ENST00000538652	protein_coding	getma.org/?cm=var&var=hg19,10,123727252,C,A&fts=all		hmmpanther:PTHR16140,hmmpanther:PTHR16140:SF2		E/*		A	NA	623/1394		NA					YES	NSMCE4A,stop_gained,p.Glu32Ter,ENST00000538652,;NSMCE4A,stop_gained,p.Glu191Ter,ENST00000369023,NM_001167865.1,NM_017615.2;NSMCE4A,stop_gained,p.Glu191Ter,ENST00000369017,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000489266,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000468209,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000464321,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000472431,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000465189,;NSMCE4A,non_coding_transcript_exon_variant,,ENST00000481320,;NSMCE4A,upstream_gene_variant,,ENST00000483541,;							HIGH	571/1158	E191*	NSE4A_HUMAN			Transcript			.	ENSP00000358019		CCDS7624.1			1	
SFTPA1	0	LGGM	GRCh37	10	81373686	81373686	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	93	4	.	.	ENST00000419470.2:c.609C>A	p.Gly203=	p.G203=	ENST00000419470		203	ggC/ggA	0	1		UPI000013CAFE	0		ENST00000398636		ENSG00000122852	10798		97			HGNC	p.G188G		SFTPA1		SNV			1				ENST00000398636	protein_coding			PROSITE_profiles:PS50041,hmmpanther:PTHR24024,hmmpanther:PTHR24024:SF13,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436		G		A		702/2212				B7Z4Y4_HUMAN,J3KPA7_HUMAN,B4DNW5_HUMAN,B4DNR9_HUMAN				SFTPA1,synonymous_variant,p.=,ENST00000398636,NM_005411.4,NM_001164646.1,NM_001164644.1;SFTPA1,synonymous_variant,p.=,ENST00000428376,NM_001164647.1;SFTPA1,synonymous_variant,p.=,ENST00000372313,;SFTPA1,synonymous_variant,p.=,ENST00000419470,;SFTPA1,synonymous_variant,p.=,ENST00000372308,NM_001093770.2;SFTPA1,downstream_gene_variant,,ENST00000439264,;SFTPA1,downstream_gene_variant,,ENST00000429958,;SFTPA1,downstream_gene_variant,,ENST00000486922,;							LOW	564/747		SFTA1_HUMAN			Transcript			.	ENSP00000381633		CCDS44445.1			1	
E2F1	0	LGGM	GRCh37	20	32268162	32268162	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	12	4	.	.	ENST00000343380.5:c.322G>T	p.Ala108Ser	p.A108S	ENST00000343380	NM_005225.2	108	Gct/Tct	0	1	1	UPI000002EDEC	0	NA	ENST00000343380		ENSG00000101412	3113		16	1.5		HGNC	p.A108S		E2F1		SNV							ENST00000343380	protein_coding	getma.org/?cm=var&var=hg19,20,32268162,C,A&fts=all		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF21		A/S		A	low	462/2503		getma.org/?cm=msa&ty=f&p=E2F1_HUMAN&rb=1&re=126&var=A108S	tolerated(0.62)				YES	E2F1,missense_variant,p.Ala108Ser,ENST00000343380,NM_005225.2;RP1-63M2.5,downstream_gene_variant,,ENST00000606866,;							MODERATE	322/1314	A108S	E2F1_HUMAN			Transcript		benign(0.011)	.	ENSP00000345571		CCDS13224.1			1	
ATF7IP	0	LGGM	GRCh37	12	14613984	14613984	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	32	4	.	.	ENST00000261168.4:c.2714G>A	p.Gly905Asp	p.G905D	ENST00000261168	NM_018179.3	905	gGt/gAt	0	1	1	UPI00001FB6B1	0	NA	ENST00000261168		ENSG00000171681	20092		36	1.7		HGNC	p.G905D		ATF7IP		SNV							ENST00000261168	protein_coding	getma.org/?cm=var&var=hg19,12,14613984,G,A&fts=all		hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210		G/D		A	low	2867/4656		getma.org/?cm=msa&ty=f&p=MCAF1_HUMAN&rb=1&re=1160&var=G905D	deleterious_low_confidence(0)	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			YES	ATF7IP,missense_variant,p.Gly913Asp,ENST00000544627,NM_181352.1;ATF7IP,missense_variant,p.Gly905Asp,ENST00000261168,NM_018179.3;ATF7IP,missense_variant,p.Gly904Asp,ENST00000536444,NM_001286514.1;ATF7IP,missense_variant,p.Gly904Asp,ENST00000543189,NM_001286515.1;ATF7IP,missense_variant,p.Gly905Asp,ENST00000540793,;ATF7IP,downstream_gene_variant,,ENST00000541654,;ATF7IP,downstream_gene_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;							MODERATE	2714/3813	G905D	MCAF1_HUMAN			Transcript		unknown(0)	.	ENSP00000261168		CCDS8663.1			1	
ENTPD8	0	LGGM	GRCh37	9	140332477	140332477	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	6	4	.	.	ENST00000371506.2:c.186G>A	p.Leu62=	p.L62=	ENST00000371506	NM_001033113.1	62	ctG/ctA	0	1	1	UPI0000D6195D	0		ENST00000371506		ENSG00000188833	24860		10			HGNC	p.L62L	rs751603146	ENTPD8		SNV				9.81E-05			ENST00000472938	protein_coding			Pfam_domain:PF01150,hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF31		L		T		370/2222	3.04E-05						YES	ENTPD8,synonymous_variant,p.=,ENST00000371506,NM_001033113.1;ENTPD8,synonymous_variant,p.=,ENST00000344119,NM_198585.2;ENTPD8,synonymous_variant,p.=,ENST00000472938,;ENTPD8,synonymous_variant,p.=,ENST00000493135,;NOXA1,downstream_gene_variant,,ENST00000341349,NM_001256067.1,NM_006647.1;NOXA1,downstream_gene_variant,,ENST00000392815,NM_001256068.1;ENTPD8,non_coding_transcript_exon_variant,,ENST00000461823,;							LOW	186/1488		ENTP8_HUMAN			Transcript			.	ENSP00000360561	2.47E-05	CCDS43913.1			1	
CTRL	0	LGGM	GRCh37	16	67964614	67964614	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	15	4	.	.	ENST00000574481.1:c.318+15T>A		*106*	ENST00000574481	NM_001907.2			0	1	1	UPI0000128670	0		ENST00000574481		ENSG00000141086	2524		19			HGNC	p.A55A		CTRL		SNV							ENST00000571605	protein_coding							T		-/1721				Q8IUW0_HUMAN			YES	CTRL,synonymous_variant,p.=,ENST00000571605,;CTRL,intron_variant,,ENST00000574481,NM_001907.2;CTRL,intron_variant,,ENST00000571044,;PSKH1,downstream_gene_variant,,ENST00000291041,NM_006742.2;PSMB10,downstream_gene_variant,,ENST00000358514,NM_002801.3;PSMB10,downstream_gene_variant,,ENST00000574576,;CTRL,downstream_gene_variant,,ENST00000576408,;CTRL,upstream_gene_variant,,ENST00000573845,;CTC-479C5.12,intron_variant,,ENST00000575231,;CTRL,intron_variant,,ENST00000572144,;CTRL,intron_variant,,ENST00000576915,;PSMB10,downstream_gene_variant,,ENST00000575556,;PSMB10,downstream_gene_variant,,ENST00000570304,;CTRL,downstream_gene_variant,,ENST00000575302,;PSMB10,downstream_gene_variant,,ENST00000570985,;CTC-479C5.12,downstream_gene_variant,,ENST00000573493,;							MODIFIER	-/795		CTRL_HUMAN			Transcript			.	ENSP00000458537		CCDS10852.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	34	25	.	.	ENST00000349496.5:c.134C>T	p.Ser45Phe	p.S45F	ENST00000349496	NM_001904.3	45	tCt/tTt	0	1	1	UPI000012862F	0	NA	ENST00000349496	pathogenic	ENSG00000168036	2514		59	2.01		HGNC	p.S45F	rs121913409,COSM5667	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266137,C,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/F		T	medium	414/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S45F	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser45Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser45Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser38Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser38Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	134/2346	S45F	CTNB1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000344456		CCDS2694.1			1	
RPL7L1	0	LGGM	GRCh37	6	42848698	42848698	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	48	5	.	.	ENST00000493763.1:c.114G>A	p.Lys38=	p.K38=	ENST00000493763	NM_198486.2	38	aaG/aaA	0	1		UPI00001D81E1	0		ENST00000304734		ENSG00000146223	21370		53			HGNC	p.K38K		RPL7L1		SNV							ENST00000493763	protein_coding			Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR01310,Pfam_domain:PF08079,hmmpanther:PTHR11524:SF13,hmmpanther:PTHR11524		K		A		370/3769				B7Z4G0_HUMAN,A8K5J5_HUMAN				RPL7L1,synonymous_variant,p.=,ENST00000493763,NM_198486.2;RPL7L1,synonymous_variant,p.=,ENST00000304734,;RPL7L1,synonymous_variant,p.=,ENST00000424341,;RPL7L1,synonymous_variant,p.=,ENST00000602561,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000397415,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000462348,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000492836,;RPL7L1,intron_variant,,ENST00000483998,;RPL7L1,intron_variant,,ENST00000487619,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000497417,;RPL7L1,upstream_gene_variant,,ENST00000459829,;							LOW	114/741		RL7L_HUMAN			Transcript			.	ENSP00000346063		CCDS4873.1			1	
SLC43A1	0	LGGM	GRCh37	11	57259288	57259288	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	10	5	.	.	ENST00000278426.3:c.919A>T	p.Ser307Cys	p.S307C	ENST00000278426	NM_003627.5	307	Agc/Tgc	0	1	1	UPI0000071F2B	0	NA	ENST00000278426		ENSG00000149150	9225		15	2.395		HGNC	p.S307C		SLC43A1		SNV							ENST00000528450	protein_coding	getma.org/?cm=var&var=hg19,11,57259288,T,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF0,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		S/C		A	medium	1275/2598		getma.org/?cm=msa&ty=f&p=LAT3_HUMAN&rb=70&re=489&var=S307C	deleterious(0)	E9PJT8_HUMAN,B3KNL1_HUMAN			YES	SLC43A1,missense_variant,p.Ser307Cys,ENST00000278426,NM_003627.5;SLC43A1,missense_variant,p.Ser307Cys,ENST00000528450,NM_001198810.1;SLC43A1,intron_variant,,ENST00000525764,;SLC43A1,downstream_gene_variant,,ENST00000533066,;SLC43A1,non_coding_transcript_exon_variant,,ENST00000533515,;SLC43A1,3_prime_UTR_variant,,ENST00000530159,;SLC43A1,non_coding_transcript_exon_variant,,ENST00000529452,;SLC43A1,intron_variant,,ENST00000534298,;							MODERATE	919/1680	S307C	LAT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000278426		CCDS7958.1			1	
IQUB	0	LGGM	GRCh37	7	123143280	123143280	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	91	5	.	.	ENST00000466202.1:c.670A>G	p.Ile224Val	p.I224V	ENST00000466202	NM_001282855.1	224	Atc/Gtc	0	1		UPI000013E3DF	0	getma.org/pdb.php?prot=IQUB_HUMAN&from=204&to=403&var=I224V	ENST00000324698		ENSG00000164675	21995		96	0.535		HGNC	p.I224V		IQUB		SNV							ENST00000466202	protein_coding	getma.org/?cm=var&var=hg19,7,123143280,T,C&fts=all		hmmpanther:PTHR21074,hmmpanther:PTHR21074:SF0		I/V		C	neutral	847/2891		getma.org/?cm=msa&ty=f&p=IQUB_HUMAN&rb=204&re=403&var=I224V	tolerated(1)					IQUB,missense_variant,p.Ile224Val,ENST00000466202,NM_001282855.1;IQUB,missense_variant,p.Ile224Val,ENST00000324698,NM_178827.4;IQUB,missense_variant,p.Ile224Val,ENST00000434450,;IQUB,non_coding_transcript_exon_variant,,ENST00000488987,;IQUB,missense_variant,p.Ile224Val,ENST00000484508,;IQUB,missense_variant,p.Ile224Val,ENST00000469057,;IQUB,non_coding_transcript_exon_variant,,ENST00000483567,;							MODERATE	670/2376	I224V	IQUB_HUMAN			Transcript		benign(0.001)	.	ENSP00000324882		CCDS5787.1			1	
STXBP3	0	LGGM	GRCh37	1	109339262	109339262	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	15	5	.	.	ENST00000370008.3:c.1270G>C	p.Asp424His	p.D424H	ENST00000370008	NM_007269.2	424	Gac/Cac	0	1	1	UPI000000DC53	0	getma.org/pdb.php?prot=STXB3_HUMAN&from=32&to=576&var=D424H	ENST00000370008		ENSG00000116266	11446		20	1.895		HGNC	p.D424H	COSM3975830	STXBP3		SNV						1	ENST00000370008	protein_coding	getma.org/?cm=var&var=hg19,1,109339262,G,C&fts=all		Superfamily_domains:SSF56815,PIRSF_domain:PIRSF005715,Pfam_domain:PF00995,Gene3D:1.25.40.60,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF33		D/H		C	low	1320/2478		getma.org/?cm=msa&ty=f&p=STXB3_HUMAN&rb=32&re=576&var=D424H	tolerated(0.08)				YES	STXBP3,missense_variant,p.Asp424His,ENST00000370008,NM_007269.2;STXBP3,non_coding_transcript_exon_variant,,ENST00000472099,;STXBP3,downstream_gene_variant,,ENST00000495245,;					1		MODERATE	1270/1779	D424H	STXB3_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000359025		CCDS790.1			1	
ACOT9	0	LGGM	GRCh37	X	23722041	23722041	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	3	6	.	.	ENST00000379303.5:c.1317C>T	p.Thr439=	p.T439=	ENST00000379303	NM_001037171.1	439	acC/acT	0	1		UPI000013F264	0		ENST00000336430		ENSG00000123130	17152		9			HGNC	p.T439T		ACOT9		SNV							ENST00000379303	protein_coding			hmmpanther:PTHR12655,hmmpanther:PTHR12655:SF0		T		A		1422/1675				Q9H2R8_HUMAN,Q96EA2_HUMAN				ACOT9,synonymous_variant,p.=,ENST00000379303,NM_001037171.1;ACOT9,synonymous_variant,p.=,ENST00000379295,;ACOT9,synonymous_variant,p.=,ENST00000336430,NM_001033583.2;ACOT9,downstream_gene_variant,,ENST00000473710,;ACOT9,downstream_gene_variant,,ENST00000492081,;ACOT9,3_prime_UTR_variant,,ENST00000494361,;ACOT9,non_coding_transcript_exon_variant,,ENST00000379297,;ACOT9,downstream_gene_variant,,ENST00000449612,;							LOW	1290/1320		ACOT9_HUMAN			Transcript			.	ENSP00000336580		CCDS35216.1			1	
C8A	0	LGGM	GRCh37	1	57373751	57373751	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	20	6	.	.	ENST00000361249.3:c.1345T>G	p.Ser449Ala	p.S449A	ENST00000361249	NM_000562.2	449	Tca/Gca	0	1	1	UPI0000127C5A	0	getma.org/pdb.php?prot=CO8A_HUMAN&from=267&to=490&var=S449A	ENST00000361249		ENSG00000157131	1352		26	2.18		HGNC	p.S449A		C8A		SNV			1				ENST00000361249	protein_coding	getma.org/?cm=var&var=hg19,1,57373751,T,G&fts=all		Pfam_domain:PF01823,Prints_domain:PR00764,PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF338,SMART_domains:SM00457		S/A		G	medium	1441/2356		getma.org/?cm=msa&ty=f&p=CO8A_HUMAN&rb=267&re=490&var=S449A	deleterious(0)				YES	C8A,missense_variant,p.Ser449Ala,ENST00000361249,NM_000562.2;							MODERATE	1345/1755	S449A	CO8A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000354458		CCDS606.1			1	
RNF213	0	LGGM	GRCh37	17	78264506	78264506	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	15	6	.	.	ENST00000582970.1:c.1250T>A	p.Ile417Asn	p.I417N	ENST00000582970	NM_001256071.1	417	aTc/aAc	0	1	1	UPI0001D3BDB1	0	NA	ENST00000582970		ENSG00000173821	14539		21	0		HGNC	p.I417N		RNF213		SNV			1				ENST00000456466	protein_coding	getma.org/?cm=var&var=hg19,17,78264506,T,A&fts=all		hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		I/N		A	neutral	1393/21055		getma.org/?cm=msa&ty=f&p=RN213_HUMAN&rb=1&re=1691&var=I417N		H3BLU6_HUMAN			YES	RNF213,missense_variant,p.Ile417Asn,ENST00000582970,NM_001256071.1;RNF213,missense_variant,p.Ile466Asn,ENST00000508628,;RNF213,missense_variant,p.Ile417Asn,ENST00000319921,NM_020954.3;RNF213,missense_variant,p.Ile417Asn,ENST00000456466,;RNF213,non_coding_transcript_exon_variant,,ENST00000559070,;RNF213,non_coding_transcript_exon_variant,,ENST00000573548,;							MODERATE	1250/15624	I417N	RN213_HUMAN			Transcript		benign(0.004)	.	ENSP00000464087		CCDS58606.1			1	
ALDH1A3	0	LGGM	GRCh37	15	101427779	101427779	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	16	7	.	.	ENST00000329841.5:c.207C>T	p.Pro69=	p.P69=	ENST00000329841	NM_000693.2	69	ccC/ccT	0	1	1	UPI00001AFAF8	0		ENST00000329841		ENSG00000184254	409		23			HGNC	p.P69P	rs770866879,COSM959581	ALDH1A3	0.000152	SNV			1			0,1	ENST00000329841	protein_coding			hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF154,Pfam_domain:PF00171,Gene3D:3.40.605.10,Superfamily_domains:SSF53720		P		T		739/3924							YES	ALDH1A3,splice_region_variant,p.=,ENST00000329841,NM_000693.2;ALDH1A3,splice_region_variant,p.=,ENST00000346623,;ALDH1A3,splice_region_variant,p.=,ENST00000561338,;ALDH1A3,splice_region_variant,,ENST00000560555,;RP11-66B24.8,downstream_gene_variant,,ENST00000558568,;ALDH1A3,splice_region_variant,p.=,ENST00000558033,;					0,1		LOW	207/1539		AL1A3_HUMAN			Transcript			.	ENSP00000332256	1.65E-05	CCDS10389.1			1	
SH3RF2	0	LGGM	GRCh37	5	145442103	145442103	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	28	7	.	.	ENST00000511217.1:c.2029G>A	p.Glu677Lys	p.E677K	ENST00000511217		677	Gaa/Aaa	0	1		UPI0000457366	0	NA	ENST00000359120		ENSG00000156463	26299		35	0.975		HGNC	p.E677K	COSM3611978	SH3RF2		SNV						1	ENST00000511217	protein_coding	getma.org/?cm=var&var=hg19,5,145442103,G,A&fts=all				E/K		A	low	2251/3027		getma.org/?cm=msa&ty=f&p=SH3R2_HUMAN&rb=665&re=727&var=E677K	deleterious(0.01)					SH3RF2,missense_variant,p.Glu677Lys,ENST00000511217,;SH3RF2,missense_variant,p.Glu677Lys,ENST00000359120,NM_152550.3;SH3RF2,non_coding_transcript_exon_variant,,ENST00000511705,;SH3RF2,non_coding_transcript_exon_variant,,ENST00000503848,;SH3RF2,downstream_gene_variant,,ENST00000504522,;					1		MODERATE	2029/2190	E677K	SH3R2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000352028		CCDS4280.1			1	
SEPT9	0	LGGM	GRCh37	17	75398308	75398308	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	17	7	.	.	ENST00000427177.1:c.244A>C	p.Ser82Arg	p.S82R	ENST00000427177	NM_001113491.1	82	Agc/Cgc	0	1	1	UPI00001AF955	0	NA	ENST00000427177		ENSG00000184640	7323		24	0.345		HGNC	p.S64R		SEPT9		SNV			1				ENST00000329047	protein_coding	getma.org/?cm=var&var=hg19,17,75398308,A,C&fts=all				S/R		C	neutral	370/3821		getma.org/?cm=msa&ty=f&p=SEPT9_HUMAN&rb=1&re=130&var=S82R	deleterious_low_confidence(0.03)	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			YES	SEPT9,missense_variant,p.Ser64Arg,ENST00000329047,NM_006640.4;SEPT9,missense_variant,p.Ser75Arg,ENST00000423034,NM_001113493.1;SEPT9,missense_variant,p.Ser82Arg,ENST00000427177,NM_001113491.1;SEPT9,missense_variant,p.Ser64Arg,ENST00000590294,;SEPT9,missense_variant,p.Ser63Arg,ENST00000591198,;SEPT9,missense_variant,p.Ser67Arg,ENST00000589070,;SEPT9,missense_variant,p.Ser89Arg,ENST00000591934,;SEPT9,missense_variant,p.Ser67Arg,ENST00000589140,;SEPT9,5_prime_UTR_variant,,ENST00000431235,;SEPT9,5_prime_UTR_variant,,ENST00000449803,NM_001113492.1;SEPT9,5_prime_UTR_variant,,ENST00000427674,NM_001113494.1;SEPT9,5_prime_UTR_variant,,ENST00000588690,;SEPT9,5_prime_UTR_variant,,ENST00000592420,;SEPT9,5_prime_UTR_variant,,ENST00000590825,;SEPT9,intron_variant,,ENST00000590059,;SEPT9,intron_variant,,ENST00000590595,;SEPT9,upstream_gene_variant,,ENST00000585930,;SEPT9,non_coding_transcript_exon_variant,,ENST00000590586,;SEPT9,non_coding_transcript_exon_variant,,ENST00000587514,;SEPT9,non_coding_transcript_exon_variant,,ENST00000592098,;SEPT9,non_coding_transcript_exon_variant,,ENST00000586812,;SEPT9,downstream_gene_variant,,ENST00000587237,;SEPT9,downstream_gene_variant,,ENST00000592407,;SEPT9,3_prime_UTR_variant,,ENST00000590576,;SEPT9,3_prime_UTR_variant,,ENST00000591833,;SEPT9,intron_variant,,ENST00000588575,;							MODERATE	244/1761	S82R	SEPT9_HUMAN			Transcript		possibly_damaging(0.451)	.	ENSP00000391249		CCDS45790.1			1	
ICK	0	LGGM	GRCh37	6	52870076	52870076	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	23	8	.	.	ENST00000356971.3:c.1770A>G	p.Arg590=	p.R590=	ENST00000356971	NM_016513.4	590	agA/agG	0	1		UPI0000073DE8	0		ENST00000350082		ENSG00000112144	21219		31			HGNC	p.R590R		ICK		SNV			1				ENST00000356971	protein_coding					R		C		2117/6116								ICK,synonymous_variant,p.=,ENST00000356971,NM_016513.4;ICK,synonymous_variant,p.=,ENST00000350082,NM_014920.3;							LOW	1770/1899		ICK_HUMAN			Transcript			.	ENSP00000263043		CCDS4949.1			1	
TEX15	0	LGGM	GRCh37	8	30702212	30702212	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	8	8	.	.	ENST00000256246.2:c.4322A>T	p.Asn1441Ile	p.N1441I	ENST00000256246	NM_031271.3	1441	aAt/aTt	0	1	1	UPI000013CEF9	0	NA	ENST00000256246		ENSG00000133863	11738		16	1.905		HGNC	p.N1441I		TEX15		SNV							ENST00000256246	protein_coding	getma.org/?cm=var&var=hg19,8,30702212,T,A&fts=all		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1		N/I		A	medium	4397/10187		getma.org/?cm=msa&ty=f&p=TEX15_HUMAN&rb=907&re=2406&var=N1441I	deleterious(0.04)	D3DSV6_HUMAN			YES	TEX15,missense_variant,p.Asn1441Ile,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;							MODERATE	4322/8370	N1441I	TEX15_HUMAN			Transcript		benign(0.148)	.	ENSP00000256246		CCDS6080.1			1	
GRM8	0	LGGM	GRCh37	7	126746599	126746599	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	29	8	.	.	ENST00000339582.2:c.678C>A	p.Asn226Lys	p.N226K	ENST00000339582		226	aaC/aaA	0	1	1	UPI000012F085	0	getma.org/pdb.php?prot=GRM8_HUMAN&from=74&to=478&var=N226K	ENST00000339582		ENSG00000179603	4600		37	2.805		HGNC	p.N226K		GRM8		SNV							ENST00000358373	protein_coding	getma.org/?cm=var&var=hg19,7,126746599,G,T&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26,Superfamily_domains:SSF53822		N/K		T	medium	1487/4057		getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=74&re=478&var=N226K	deleterious(0.01)	E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,missense_variant,p.Asn226Lys,ENST00000339582,;GRM8,missense_variant,p.Asn226Lys,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Asn226Lys,ENST00000444921,NM_000845.2;GRM8,missense_variant,p.Asn226Lys,ENST00000405249,;GRM8,missense_variant,p.Asn226Lys,ENST00000457830,;GRM8,missense_variant,p.Asn36Lys,ENST00000465844,;GRM8,non_coding_transcript_exon_variant,,ENST00000480995,;GRM8,non_coding_transcript_exon_variant,,ENST00000448250,;GRM8,non_coding_transcript_exon_variant,,ENST00000473254,;GRM8,missense_variant,p.Asn226Lys,ENST00000472701,;GRM8,missense_variant,p.Asn226Lys,ENST00000341617,;							MODERATE	678/2727	N226K	GRM8_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000344173		CCDS5794.1			1	
C17orf74	0	LGGM	GRCh37	17	7330032	7330032	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	15	9	.	.	ENST00000333870.3:c.722G>A	p.Arg241His	p.R241H	ENST00000333870	NM_175734.4	241	cGc/cAc	0	1	1	UPI000015FC87	0	NA	ENST00000333870		ENSG00000184560	27315		24	1.04		HGNC	p.R241H	rs373272951	C17orf74		SNV	A:0.0002						ENST00000333870	protein_coding	getma.org/?cm=var&var=hg19,17,7330032,G,A&fts=all	A:0.0008			R/H	A:0	A	low	796/1651	1.51E-05	getma.org/?cm=msa&ty=f&p=CQ074_HUMAN&rb=128&re=499&var=R241H	tolerated(0.05)		A:0	A:0	YES	C17orf74,missense_variant,p.Arg241His,ENST00000333870,NM_175734.4;C17orf74,3_prime_UTR_variant,,ENST00000574034,;RP11-104H15.7,intron_variant,,ENST00000575310,;		A:0.0002					MODERATE	722/1506	R241H	CQ074_HUMAN		A:0	Transcript		benign(0.001)	.	ENSP00000328061	8.25E-06	CCDS42255.1		A:0	1	
FAT1	0	LGGM	GRCh37	4	187628565	187628565	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	116	9	.	.	ENST00000441802.2:c.2417G>A	p.Arg806His	p.R806H	ENST00000441802	NM_005245.3	806	cGt/cAt	0	1	1	UPI000051946B	0	NA	ENST00000441802		ENSG00000083857	3595		125	1.05		HGNC	p.R806H	rs765342648,COSM586835,COSM586834	FAT1	6.06E-05	SNV						0,1,1	ENST00000441802	protein_coding	getma.org/?cm=var&var=hg19,4,187628565,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026:SF40,hmmpanther:PTHR24026,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/H		T	low	2627/14786	0.00021	getma.org/?cm=msa&ty=f&p=FAT1_HUMAN&rb=722&re=813&var=R806H		D6RCE4_HUMAN			YES	FAT1,missense_variant,p.Arg806His,ENST00000441802,NM_005245.3;FAT1,downstream_gene_variant,,ENST00000509647,;					0,1,1		MODERATE	2417/13767	R806H	FAT1_HUMAN			Transcript		benign(0.012)	.	ENSP00000406229	0.000124	CCDS47177.1			1	
SLC22A16	0	LGGM	GRCh37	6	110778052	110778052	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	31	9	.	.	ENST00000368919.3:c.222C>A	p.Thr74=	p.T74=	ENST00000368919	NM_033125.3	74	acC/acA	0	1	1	UPI000000DC13	0		ENST00000368919		ENSG00000004809	20302		40			HGNC	p.T31T		SLC22A16		SNV							ENST00000424139	protein_coding			hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF206		T		T		289/1987				Q96ER0_HUMAN,C9JU94_HUMAN,C9JGT0_HUMAN			YES	SLC22A16,synonymous_variant,p.=,ENST00000368919,NM_033125.3;SLC22A16,synonymous_variant,p.=,ENST00000439654,;SLC22A16,synonymous_variant,p.=,ENST00000456137,;SLC22A16,synonymous_variant,p.=,ENST00000437378,;SLC22A16,synonymous_variant,p.=,ENST00000424139,;SLC22A16,intron_variant,,ENST00000330550,;SLC22A16,intron_variant,,ENST00000434949,;SLC22A16,upstream_gene_variant,,ENST00000451557,;SLC22A16,non_coding_transcript_exon_variant,,ENST00000461487,;							LOW	222/1734		S22AG_HUMAN			Transcript			.	ENSP00000357915		CCDS5084.1			1	
MYO3A	0	LGGM	GRCh37	10	26465645	26465645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	13	9	.	.	ENST00000265944.5:c.4309G>A	p.Glu1437Lys	p.E1437K	ENST00000265944	NM_017433.4	1437	Gaa/Aaa	0	1	1	UPI000014140A	0	NA	ENST00000265944		ENSG00000095777	7601		22	1.445		HGNC	p.E1437K		MYO3A		SNV			1				ENST00000265944	protein_coding	getma.org/?cm=var&var=hg19,10,26465645,G,A&fts=all		hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140		E/K		A	low	4475/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=1368&re=1567&var=E1437K	deleterious_low_confidence(0.04)				YES	MYO3A,missense_variant,p.Glu1437Lys,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;							MODERATE	4309/4851	E1437K	MYO3A_HUMAN			Transcript		possibly_damaging(0.698)	.	ENSP00000265944		CCDS7148.1			1	
ITPR2	0	LGGM	GRCh37	12	26551898	26551898	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	23	10	.	.	ENST00000381340.3:c.7607T>C	p.Ile2536Thr	p.I2536T	ENST00000381340	NM_002223.2	2536	aTt/aCt	0	1	1	UPI00001FB7D2	0	NA	ENST00000381340		ENSG00000123104	6181		33	3.31		HGNC	p.I2536T	COSM1605977	ITPR2		SNV						1	ENST00000381340	protein_coding	getma.org/?cm=var&var=hg19,12,26551898,A,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13715,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I/T		G	medium	8024/10511		getma.org/?cm=msa&ty=f&p=ITPR2_HUMAN&rb=2262&re=2540&var=I2536T	deleterious(0)	I1VE21_HUMAN			YES	ITPR2,missense_variant,p.Ile2536Thr,ENST00000381340,NM_002223.2;RP11-513G19.1,intron_variant,,ENST00000535324,;ITPR2,3_prime_UTR_variant,,ENST00000451599,;					1		MODERATE	7607/8106	I2536T	ITPR2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000370744		CCDS41764.1			1	
BEND6	0	LGGM	GRCh37	6	56882098	56882098	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	50	11	.	.	ENST00000370746.3:c.613T>C	p.Tyr205His	p.Y205H	ENST00000370746	NM_152731.2	205	Tac/Cac	0	1	1	UPI000020DF34	0	NA	ENST00000370746		ENSG00000151917	20871		61	0		HGNC	p.Y205H		BEND6		SNV							ENST00000370746	protein_coding	getma.org/?cm=var&var=hg19,6,56882098,T,C&fts=all		Pfam_domain:PF10523,PROSITE_profiles:PS51457,SMART_domains:SM01025		Y/H		C	neutral	882/2379		getma.org/?cm=msa&ty=f&p=BEND6_HUMAN&rb=190&re=271&var=Y205H	deleterious(0.04)	B7Z9G1_HUMAN,B7Z8N8_HUMAN			YES	BEND6,missense_variant,p.Tyr205His,ENST00000370746,NM_152731.2;BEND6,missense_variant,p.Tyr107His,ENST00000545789,;BEND6,3_prime_UTR_variant,,ENST00000370750,;BEND6,downstream_gene_variant,,ENST00000370745,;BEND6,non_coding_transcript_exon_variant,,ENST00000484701,;							MODERATE	613/840	Y205H	BEND6_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000359782		CCDS43476.1			1	
MAST4	0	LGGM	GRCh37	5	66429367	66429367	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	142	11	.	.	ENST00000403625.2:c.2119A>G	p.Ile707Val	p.I707V	ENST00000403625	NM_001164664.1	707	Ata/Gta	0	1	1	UPI000173A2B0	0	getma.org/pdb.php?prot=MAST4_HUMAN&from=573&to=846&var=I710V	ENST00000403625		ENSG00000069020	19037		153	0.1		HGNC	p.I710V	rs368570489	MAST4		SNV	G:0.0008			0.00143			ENST00000404260	protein_coding	getma.org/?cm=var&var=hg19,5,66429367,A,G&fts=all	G:0.0008	Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V	G:0	G	neutral	2414/10711		getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=573&re=846&var=I710V		J3QT34_HUMAN	G:0	G:0	YES	MAST4,missense_variant,p.Ile710Val,ENST00000404260,;MAST4,missense_variant,p.Ile707Val,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Ile528Val,ENST00000405643,;MAST4,missense_variant,p.Ile513Val,ENST00000261569,;MAST4,missense_variant,p.Ile518Val,ENST00000403666,NM_015183.2;		G:0.0002					MODERATE	2119/7872	I710V			G:0	Transcript		possibly_damaging(0.854)	common_variant	ENSP00000385727	0.000116	CCDS54861.1		G:0	1	
TDRD9	0	LGGM	GRCh37	14	104429481	104429481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	14	11	.	.	ENST00000409874.4:c.388C>A	p.Pro130Thr	p.P130T	ENST00000409874	NM_153046.2	130	Cct/Act	0	1	1	UPI0001642306	0	NA	ENST00000409874		ENSG00000156414	20122		25	0.805		HGNC	p.P130T		TDRD9		SNV							ENST00000339063	protein_coding	getma.org/?cm=var&var=hg19,14,104429481,C,A&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF80,SMART_domains:SM00487		P/T		A	low	436/4782		getma.org/?cm=msa&ty=f&p=TDRD9_HUMAN&rb=74&re=134&var=P130T	deleterious(0.03)				YES	TDRD9,missense_variant,p.Pro130Thr,ENST00000409874,NM_153046.2;TDRD9,missense_variant,p.Pro130Thr,ENST00000339063,;TDRD9,non_coding_transcript_exon_variant,,ENST00000554571,;TDRD9,non_coding_transcript_exon_variant,,ENST00000496087,;							MODERATE	388/4149	P130T	TDRD9_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000387303		CCDS9987.2			1	
CD1D	0	LGGM	GRCh37	1	158151491	158151491	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	39	11	.	.	ENST00000368171.3:c.308C>A	p.Ala103Asp	p.A103D	ENST00000368171	NM_001766.3	103	gCc/gAc	0	1	1	UPI00000012B1	0	getma.org/pdb.php?prot=CD1D_HUMAN&from=1&to=200&var=A103D	ENST00000368171		ENSG00000158473	1637		50	2.585		HGNC	p.A103D		CD1D		SNV							ENST00000368171	protein_coding	getma.org/?cm=var&var=hg19,1,158151491,C,A&fts=all		Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Superfamily_domains:SSF54452		A/D		A	medium	807/2253		getma.org/?cm=msa&ty=f&p=CD1D_HUMAN&rb=1&re=200&var=A103D	deleterious(0.01)				YES	CD1D,missense_variant,p.Ala103Asp,ENST00000368171,NM_001766.3;ELL2P1,upstream_gene_variant,,ENST00000413990,;							MODERATE	308/1008	A103D	CD1D_HUMAN			Transcript		possibly_damaging(0.782)	.	ENSP00000357153		CCDS1173.1			1	
CD33	0	LGGM	GRCh37	19	51742933	51742933	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	17	12	.	.	ENST00000262262.4:c.1085G>T	p.Arg362Met	p.R362M	ENST00000262262	NM_001772.3	362	aGg/aTg	0	1	1	UPI000013D285	0	NA	ENST00000262262		ENSG00000105383	1659		29	1.735		HGNC	p.R362M		CD33		SNV							ENST00000262262	protein_coding	getma.org/?cm=var&var=hg19,19,51742933,G,T&fts=all				R/M		T	low	1106/1444		getma.org/?cm=msa&ty=f&p=CD33_HUMAN&rb=215&re=364&var=R362M	deleterious(0)	Q546G0_HUMAN			YES	CD33,missense_variant,p.Arg362Met,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Arg235Met,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,;							MODERATE	1085/1095	R362M	CD33_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000262262		CCDS33084.1			1	
PDCD2	0	LGGM	GRCh37	6	170887960	170887960	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	33	12	.	.	ENST00000541970.1:c.861A>T	p.Arg287Ser	p.R287S	ENST00000541970	NM_001199462.1	287	agA/agT	0	1	1	UPI000013149C	0	NA	ENST00000541970		ENSG00000071994	8762		45	3.215		HGNC	p.R254S		PDCD2		SNV							ENST00000392090	protein_coding	getma.org/?cm=var&var=hg19,6,170887960,T,A&fts=all		hmmpanther:PTHR12298,Pfam_domain:PF04194		R/S		A	medium	940/3378		getma.org/?cm=msa&ty=f&p=PDCD2_HUMAN&rb=183&re=341&var=R287S	deleterious(0)	F5H739_HUMAN			YES	PDCD2,missense_variant,p.Arg287Ser,ENST00000541970,NM_001199462.1,NM_002598.3;PDCD2,missense_variant,p.Arg287Ser,ENST00000542896,;PDCD2,missense_variant,p.Arg254Ser,ENST00000392090,;PDCD2,downstream_gene_variant,,ENST00000453163,;PDCD2,downstream_gene_variant,,ENST00000443345,NM_001199463.1,NM_144781.2;PDCD2,downstream_gene_variant,,ENST00000537445,NM_001199461.1,NM_001199464.1;PDCD2,downstream_gene_variant,,ENST00000538195,;PDCD2,3_prime_UTR_variant,,ENST00000167218,;PDCD2,3_prime_UTR_variant,,ENST00000545869,;PDCD2,3_prime_UTR_variant,,ENST00000544866,;PDCD2,non_coding_transcript_exon_variant,,ENST00000543284,;PDCD2,downstream_gene_variant,,ENST00000544336,;PDCD2,downstream_gene_variant,,ENST00000544755,;PDCD2,downstream_gene_variant,,ENST00000539212,;							MODERATE	861/1035	R287S	PDCD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000439467		CCDS5316.1			1	
TERF2	0	LGGM	GRCh37	16	69401020	69401020	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	23	12	.	.	ENST00000603068.1:c.904G>T	p.Glu302Ter	p.E302*	ENST00000603068		302	Gag/Tag	0	1		UPI0000EE5A05	0	NA	ENST00000254942		ENSG00000132604	11729		35	0		HGNC	p.E184X		TERF2		SNV							ENST00000566257	protein_coding	getma.org/?cm=var&var=hg19,16,69401020,C,A&fts=all		hmmpanther:PTHR21717:SF13,hmmpanther:PTHR21717,PIRSF_domain:PIRSF038016		E/*		A	NA	1047/2983		NA						TERF2,stop_gained,p.Glu344Ter,ENST00000254942,NM_005652.4;TERF2,stop_gained,p.Glu302Ter,ENST00000603068,;TERF2,stop_gained,p.Glu118Ter,ENST00000569584,;TERF2,stop_gained,p.Glu223Ter,ENST00000566750,;TERF2,stop_gained,p.Glu184Ter,ENST00000566257,;TERF2,stop_gained,p.Glu88Ter,ENST00000569542,;TERF2,downstream_gene_variant,,ENST00000567296,;TERF2,downstream_gene_variant,,ENST00000569611,;TERF2,3_prime_UTR_variant,,ENST00000564982,;TERF2,downstream_gene_variant,,ENST00000569280,;TERF2,upstream_gene_variant,,ENST00000567130,;							HIGH	1030/1629	E302*	TERF2_HUMAN			Transcript			.	ENSP00000254942		CCDS10879.2			1	
SIAE	0	LGGM	GRCh37	11	124539361	124539361	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	25	13	.	.	ENST00000263593.3:c.124C>T	p.Pro42Ser	p.P42S	ENST00000263593		42	Cct/Tct	0	1	1	UPI0000073B2D	0	NA	ENST00000263593		ENSG00000110013	18187		38	2.3		HGNC	p.P7S		SIAE		SNV			1				ENST00000545756	protein_coding	getma.org/?cm=var&var=hg19,11,124539361,G,A&fts=all		hmmpanther:PTHR22901		P/S		A	medium	297/5583		getma.org/?cm=msa&ty=f&p=SIAE_HUMAN&rb=1&re=117&var=P42S	deleterious(0)				YES	SIAE,missense_variant,p.Pro42Ser,ENST00000263593,;SIAE,missense_variant,p.Pro7Ser,ENST00000545756,NM_170601.4,NM_001199922.1;SPA17,upstream_gene_variant,,ENST00000532692,;SPA17,upstream_gene_variant,,ENST00000227135,NM_017425.3;SIAE,non_coding_transcript_exon_variant,,ENST00000525730,;SPA17,upstream_gene_variant,,ENST00000529498,;SIAE,non_coding_transcript_exon_variant,,ENST00000436137,;SIAE,non_coding_transcript_exon_variant,,ENST00000533613,;							MODERATE	124/1572	P42S	SIAE_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000263593		CCDS8449.1			1	
USP31	0	LGGM	GRCh37	16	23080126	23080126	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	25	13	.	.	ENST00000219689.7:c.3300C>A	p.Ser1100=	p.S1100=	ENST00000219689	NM_020718.3	1100	tcC/tcA	0	1	1	UPI0000366B06	0		ENST00000219689		ENSG00000103404	20060		38			HGNC	p.S1100S		USP31		SNV							ENST00000219689	protein_coding			Low_complexity_(Seg):seg		S		T		3300/10699							YES	USP31,synonymous_variant,p.=,ENST00000219689,NM_020718.3;USP31,synonymous_variant,p.=,ENST00000567975,;RP11-20G6.3,upstream_gene_variant,,ENST00000563129,;USP31,intron_variant,,ENST00000381162,;							LOW	3300/4059		UBP31_HUMAN			Transcript			.	ENSP00000219689		CCDS10607.1			1	
PCDH7	0	LGGM	GRCh37	4	30726104	30726104	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	16	13	.	.	ENST00000543491.1:c.3060C>A	p.Ala1020=	p.A1020=	ENST00000543491		1020	gcC/gcA	0	1		UPI000013EA2E	0		ENST00000361762		ENSG00000169851	8659		29			HGNC	p.A1020A		PCDH7		SNV							ENST00000543491	protein_coding			Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14		A		A		4068/5398								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,non_coding_transcript_exon_variant,,ENST00000507864,;							LOW	3060/3210		PCDH7_HUMAN			Transcript			.	ENSP00000355243		CCDS33971.1			1	
KALRN	0	LGGM	GRCh37	3	124053123	124053123	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	37	13	.	.	ENST00000240874.3:c.1422T>C	p.Asp474=	p.D474=	ENST00000240874	NM_003947.4	474	gaT/gaC	0	1	1	UPI000012C095	0		ENST00000240874		ENSG00000160145	4814		50			HGNC	p.D474D		KALRN		SNV			1				ENST00000460856	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,SMART_domains:SM00150		D		C		1579/6537							YES	KALRN,synonymous_variant,p.=,ENST00000360013,NM_001024660.3;KALRN,synonymous_variant,p.=,ENST00000354186,;KALRN,synonymous_variant,p.=,ENST00000240874,NM_003947.4;KALRN,synonymous_variant,p.=,ENST00000460856,;KALRN,upstream_gene_variant,,ENST00000439170,;							LOW	1422/4992		KALRN_HUMAN			Transcript			.	ENSP00000240874		CCDS3027.1			1	
GPA33	0	LGGM	GRCh37	1	167024287	167024287	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	45	14	.	.	ENST00000367868.3:c.753C>G	p.Ile251Met	p.I251M	ENST00000367868	NM_005814.1	251	atC/atG	0	1	1	UPI000012502D	0	NA	ENST00000367868		ENSG00000143167	4445		59	1.935		HGNC	p.I251M		GPA33		SNV							ENST00000367868	protein_coding	getma.org/?cm=var&var=hg19,1,167024287,G,C&fts=all		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF11,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I/M		C	medium	1097/2802		getma.org/?cm=msa&ty=f&p=GPA33_HUMAN&rb=229&re=319&var=I251M	deleterious(0)				YES	GPA33,missense_variant,p.Ile251Met,ENST00000367868,NM_005814.1;RP11-102C16.3,intron_variant,,ENST00000417644,;GPA33,non_coding_transcript_exon_variant,,ENST00000527955,;							MODERATE	753/960	I251M	GPA33_HUMAN			Transcript		possibly_damaging(0.718)	.	ENSP00000356842		CCDS1258.1			1	
KY	0	LGGM	GRCh37	3	134322946	134322946	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	16	14	.	.	ENST00000423778.2:c.1461G>A	p.Glu487=	p.E487=	ENST00000423778	NM_178554.4	487	gaG/gaA	0	1	1	UPI0000EE2109	0		ENST00000423778		ENSG00000174611	26576		30			HGNC	p.E466E	COSM3587746,COSM3587745	KY		SNV						1,1	ENST00000508956	protein_coding			hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31		E		T		1523/2345							YES	KY,synonymous_variant,p.=,ENST00000508956,;KY,synonymous_variant,p.=,ENST00000423778,NM_178554.4;KY,3_prime_UTR_variant,,ENST00000503669,;EPHB1,intron_variant,,ENST00000472904,;EPHB1,intron_variant,,ENST00000467708,;EPHB1,downstream_gene_variant,,ENST00000467013,;KY,downstream_gene_variant,,ENST00000506319,;					1,1		LOW	1461/1986		KY_HUMAN			Transcript			.	ENSP00000397598		CCDS46920.1			1	
USP31	0	LGGM	GRCh37	16	23080128	23080128	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	23	14	.	.	ENST00000219689.7:c.3298T>A	p.Ser1100Thr	p.S1100T	ENST00000219689	NM_020718.3	1100	Tcc/Acc	0	1	1	UPI0000366B06	0	NA	ENST00000219689		ENSG00000103404	20060		37	0.805		HGNC	p.S1100T		USP31		SNV							ENST00000219689	protein_coding	getma.org/?cm=var&var=hg19,16,23080128,A,T&fts=all		Low_complexity_(Seg):seg		S/T		T	low	3298/10699		getma.org/?cm=msa&ty=f&p=UBP31_HUMAN&rb=963&re=1162&var=S1100T	tolerated_low_confidence(0.21)				YES	USP31,missense_variant,p.Ser1100Thr,ENST00000219689,NM_020718.3;USP31,missense_variant,p.Ser393Thr,ENST00000567975,;RP11-20G6.3,upstream_gene_variant,,ENST00000563129,;USP31,intron_variant,,ENST00000381162,;							MODERATE	3298/4059	S1100T	UBP31_HUMAN			Transcript		benign(0.08)	.	ENSP00000219689		CCDS10607.1			1	
GPA33	0	LGGM	GRCh37	1	167024288	167024288	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	45	14	.	.	ENST00000367868.3:c.752T>A	p.Ile251Asn	p.I251N	ENST00000367868	NM_005814.1	251	aTc/aAc	0	1	1	UPI000012502D	0	NA	ENST00000367868		ENSG00000143167	4445		59	2.28		HGNC	p.I251N		GPA33		SNV							ENST00000367868	protein_coding	getma.org/?cm=var&var=hg19,1,167024288,A,T&fts=all		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF11,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I/N		T	medium	1096/2802		getma.org/?cm=msa&ty=f&p=GPA33_HUMAN&rb=229&re=319&var=I251N	deleterious(0)				YES	GPA33,missense_variant,p.Ile251Asn,ENST00000367868,NM_005814.1;RP11-102C16.3,intron_variant,,ENST00000417644,;GPA33,non_coding_transcript_exon_variant,,ENST00000527955,;							MODERATE	752/960	I251N	GPA33_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000356842		CCDS1258.1			1	
MAST3	0	LGGM	GRCh37	19	18260449	18260449	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	5	15	.	.	ENST00000262811.6:c.3843C>T	p.Ala1281=	p.A1281=	ENST00000262811	NM_015016.1	1281	gcC/gcT	0	1	1	UPI00001D8275	0		ENST00000262811		ENSG00000099308	19036		20			HGNC	p.A1281A		MAST3		SNV							ENST00000262811	protein_coding					A		T		3843/5896							YES	MAST3,synonymous_variant,p.=,ENST00000262811,NM_015016.1;PIK3R2,upstream_gene_variant,,ENST00000222254,NM_005027.3;AC007192.6,intron_variant,,ENST00000600364,;MAST3,downstream_gene_variant,,ENST00000609076,;PIK3R2,upstream_gene_variant,,ENST00000593731,;							LOW	3843/3930		MAST3_HUMAN			Transcript			.	ENSP00000262811		CCDS46014.1			1	
HPSE	0	LGGM	GRCh37	4	84223403	84223403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	20	15	.	.	ENST00000405413.2:c.1225C>A	p.Leu409Met	p.L409M	ENST00000405413	NM_006665.5	409	Ctg/Atg	0	1		UPI000013F168	0	NA	ENST00000311412		ENSG00000173083	5164		35	3.31		HGNC	p.L409M		HPSE		SNV							ENST00000405413	protein_coding	getma.org/?cm=var&var=hg19,4,84223403,G,T&fts=all		hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF10,Superfamily_domains:SSF51445		L/M		T	medium	1325/4615		getma.org/?cm=msa&ty=f&p=HPSE_HUMAN&rb=371&re=543&var=L409M	deleterious(0.03)					HPSE,missense_variant,p.Leu409Met,ENST00000405413,NM_006665.5;HPSE,missense_variant,p.Leu409Met,ENST00000311412,NM_001098540.2;HPSE,missense_variant,p.Leu335Met,ENST00000512196,NM_001166498.2;HPSE,missense_variant,p.Leu351Met,ENST00000513463,NM_001199830.1;HPSE,missense_variant,p.Phe370Leu,ENST00000509906,;HPSE,3_prime_UTR_variant,,ENST00000507150,;HPSE,3_prime_UTR_variant,,ENST00000508891,;							MODERATE	1225/1632	L409M	HPSE_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000308107		CCDS3602.1			1	
KEAP1	0	LGGM	GRCh37	19	10602799	10602799	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	8	15	.	.	ENST00000171111.5:c.779G>A	p.Arg260Gln	p.R260Q	ENST00000171111	NM_203500.1	260	cGa/cAa	0	1	1	UPI000007139C	0	getma.org/pdb.php?prot=KEAP1_HUMAN&from=184&to=286&var=R260Q	ENST00000171111		ENSG00000079999	23177		23	3.835		HGNC	p.R260Q	COSM710192	KEAP1		SNV						1	ENST00000393623	protein_coding	getma.org/?cm=var&var=hg19,19,10602799,C,T&fts=all		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037		R/Q		T	high	1327/2955		getma.org/?cm=msa&ty=f&p=KEAP1_HUMAN&rb=184&re=286&var=R260Q	deleterious(0)	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,missense_variant,p.Arg260Gln,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Arg260Gln,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Arg260Gln,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;					1		MODERATE	779/1875	R260Q	KEAP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000171111		CCDS12239.1			1	
SPDYA	0	LGGM	GRCh37	2	29063236	29063236	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	26	15	.	.	ENST00000334056.5:c.751C>T	p.His251Tyr	p.H251Y	ENST00000334056	NM_182756.3	251	Cat/Tat	0	1	1	UPI00002081C1	0	NA	ENST00000334056		ENSG00000163806	30613		41	0.69		HGNC	p.H251Y		SPDYA		SNV							ENST00000334056	protein_coding	getma.org/?cm=var&var=hg19,2,29063236,C,T&fts=all		hmmpanther:PTHR31545:SF3,hmmpanther:PTHR31545		H/Y		T	neutral	940/1801		getma.org/?cm=msa&ty=f&p=SPDYA_HUMAN&rb=200&re=313&var=H251Y	tolerated(0.25)	Q53R02_HUMAN,E7EPV1_HUMAN			YES	SPDYA,missense_variant,p.His251Tyr,ENST00000334056,NM_182756.3;SPDYA,missense_variant,p.His251Tyr,ENST00000379579,NM_001142634.1;SPDYA,intron_variant,,ENST00000439646,;SPDYA,non_coding_transcript_exon_variant,,ENST00000462832,;SPDYA,non_coding_transcript_exon_variant,,ENST00000491044,;SPDYA,non_coding_transcript_exon_variant,,ENST00000467226,;							MODERATE	751/942	H251Y	SPDYA_HUMAN			Transcript		benign(0.102)	.	ENSP00000335628		CCDS1767.2			1	
TPTE2	0	LGGM	GRCh37	13	20039656	20039656	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	23	15	.	.	ENST00000400230.2:c.561T>C	p.Ile187=	p.I187=	ENST00000400230		187	atT/atC	0	1	1	UPI000040738D	0		ENST00000400230		ENSG00000132958	17299		38			HGNC	p.I187I		TPTE2		SNV							ENST00000400230	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12305,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		I		G		606/1793							YES	TPTE2,synonymous_variant,p.=,ENST00000400230,;TPTE2,synonymous_variant,p.=,ENST00000382977,NM_199254.2;TPTE2,synonymous_variant,p.=,ENST00000382978,;TPTE2,synonymous_variant,p.=,ENST00000382975,;TPTE2,synonymous_variant,p.=,ENST00000400103,NM_001141968.1;TPTE2,synonymous_variant,p.=,ENST00000255310,;TPTE2,synonymous_variant,p.=,ENST00000390680,NM_130785.3;TPTE2,synonymous_variant,p.=,ENST00000457266,;TPTE2,synonymous_variant,p.=,ENST00000462409,;							LOW	561/1569		TPTE2_HUMAN			Transcript			.	ENSP00000383089		CCDS45014.1			1	
MOGAT2	0	LGGM	GRCh37	11	75431088	75431088	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	37	15	.	.	ENST00000198801.5:c.143T>G	p.Leu48Arg	p.L48R	ENST00000198801	NM_025098.2	48	cTc/cGc	0	1	1	UPI000000D839	0	NA	ENST00000198801		ENSG00000166391	23248		52	2.585		HGNC	p.L48R		MOGAT2		SNV							ENST00000525093	protein_coding	getma.org/?cm=var&var=hg19,11,75431088,T,G&fts=all		hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF5,Pfam_domain:PF03982		L/R		G	medium	213/1404		getma.org/?cm=msa&ty=f&p=MOGT2_HUMAN&rb=39&re=334&var=L48R	tolerated(0.07)				YES	MOGAT2,missense_variant,p.Leu48Arg,ENST00000198801,NM_025098.2;MOGAT2,5_prime_UTR_variant,,ENST00000526712,;MOGAT2,missense_variant,p.Leu48Arg,ENST00000525093,;							MODERATE	143/1005	L48R	MOGT2_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000198801		CCDS8240.1			1	
FYB	0	LGGM	GRCh37	5	39122462	39122462	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	28	16	.	.	ENST00000540520.1:c.2144T>C	p.Phe715Ser	p.F715S	ENST00000540520	NM_001243093.1	715	tTc/tCc	0	1		UPI000020C9D5	0	NA	ENST00000351578		ENSG00000082074	4036		44	2.125		HGNC	p.F659S		FYB		SNV							ENST00000515010	protein_coding	getma.org/?cm=var&var=hg19,5,39122462,A,G&fts=all		hmmpanther:PTHR16830:SF10,hmmpanther:PTHR16830		F/S		G	medium	2167/4750		getma.org/?cm=msa&ty=f&p=FYB_HUMAN&rb=571&re=770&var=F659S	deleterious(0)	D6RFJ5_HUMAN,D6RER7_HUMAN,D6RC38_HUMAN,D6RAE8_HUMAN				FYB,missense_variant,p.Phe659Ser,ENST00000351578,NM_199335.3;FYB,missense_variant,p.Phe705Ser,ENST00000505428,NM_001465.4;FYB,missense_variant,p.Phe705Ser,ENST00000512982,;FYB,missense_variant,p.Phe715Ser,ENST00000540520,NM_001243093.1;FYB,missense_variant,p.Phe659Ser,ENST00000515010,;							MODERATE	1976/2352	F659S	FYB_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000316460		CCDS47200.1			1	
FPR2	0	LGGM	GRCh37	19	52272292	52272292	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	26	16	.	.	ENST00000598776.1:c.381C>T	p.Val127=	p.V127=	ENST00000598776	NM_001462.3	127	gtC/gtT	0	1		UPI00000012D0	0		ENST00000340023		ENSG00000171049	3827		42			HGNC	p.V127V		FPR2		SNV							ENST00000599326	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00526,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,Superfamily_domains:SSF81321		V		T		775/2262				M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN				FPR2,synonymous_variant,p.=,ENST00000598776,NM_001462.3;FPR2,synonymous_variant,p.=,ENST00000340023,NM_001005738.1;FPR2,synonymous_variant,p.=,ENST00000598953,;FPR2,synonymous_variant,p.=,ENST00000599326,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000600722,;							LOW	381/1056		FPR2_HUMAN			Transcript			.	ENSP00000340191		CCDS12840.1			1	
ACAN	0	LGGM	GRCh37	15	89398412	89398412	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	22	17	.	.	ENST00000439576.2:c.2596G>A	p.Val866Ile	p.V866I	ENST00000439576	NM_013227.3	866	Gtc/Atc	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		39	1.085		HGNC	p.V866I	rs776186236	ACAN		SNV			1				ENST00000559004	protein_coding	getma.org/?cm=var&var=hg19,15,89398412,G,A&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		V/I		A	low	2970/8840		getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=674&re=873&var=V865I	tolerated(0.49)	Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,missense_variant,p.Val866Ile,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Val866Ile,ENST00000559004,;ACAN,missense_variant,p.Val866Ile,ENST00000561243,;ACAN,missense_variant,p.Val866Ile,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;ACAN,upstream_gene_variant,,ENST00000560601,;	0.000813						MODERATE	2596/7593	V865I				Transcript		benign(0.109)	common_variant	ENSP00000387356	5.79E-05	CCDS53970.1			1	
ROBO1	0	LGGM	GRCh37	3	78988066	78988066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	81	17	.	.	ENST00000464233.1:c.184C>T	p.Arg62Cys	p.R62C	ENST00000464233	NM_002941.3	62	Cgt/Tgt	0	1	1	UPI00000713D9	0	NA	ENST00000464233		ENSG00000169855	10249	8.65E-05	98	0		HGNC	p.R62C	rs773336130	ROBO1		SNV							ENST00000464233	protein_coding	getma.org/?cm=var&var=hg19,3,78988066,G,A&fts=all		hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489		R/C		A	neutral	298/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=1&re=67&var=R62C	deleterious(0)				YES	ROBO1,missense_variant,p.Arg23Cys,ENST00000436010,;ROBO1,missense_variant,p.Arg62Cys,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Arg23Cys,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Arg23Cys,ENST00000467549,;RN7SL751P,upstream_gene_variant,,ENST00000473281,;							MODERATE	184/4956	R62C	ROBO1_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000420321	8.28E-06	CCDS54611.1			1	
SRP68	0	LGGM	GRCh37	17	74063383	74063383	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	25	18	.	.	ENST00000307877.2:c.280C>A	p.Leu94Ile	p.L94I	ENST00000307877	NM_014230.3	94	Ctt/Att	0	1	1	UPI000006EAEC	0	NA	ENST00000307877		ENSG00000167881	11302		43	1.565		HGNC	p.L94I		SRP68		SNV							ENST00000307877	protein_coding	getma.org/?cm=var&var=hg19,17,74063383,G,T&fts=all		PIRSF_domain:PIRSF038995,hmmpanther:PTHR12860,Low_complexity_(Seg):seg		L/I		T	low	442/2649		getma.org/?cm=msa&ty=f&p=SRP68_HUMAN&rb=1&re=200&var=L94I	tolerated(0.19)	Q96K97_HUMAN,F5H5Y3_HUMAN			YES	SRP68,missense_variant,p.Leu94Ile,ENST00000307877,NM_014230.3;SRP68,5_prime_UTR_variant,,ENST00000355113,;SRP68,intron_variant,,ENST00000539137,NM_001260502.1;SRP68,upstream_gene_variant,,ENST00000585539,;SRP68,3_prime_UTR_variant,,ENST00000592704,;SRP68,3_prime_UTR_variant,,ENST00000591272,;SRP68,upstream_gene_variant,,ENST00000587864,;ZACN,upstream_gene_variant,,ENST00000591500,;							MODERATE	280/1884	L94I	SRP68_HUMAN			Transcript		benign(0.021)	.	ENSP00000312066		CCDS11738.1			1	
MALRD1	0	LGGM	GRCh37	10	19636945	19636945	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	46	18	.	.	ENST00000377266.3:c.2074A>T	p.Lys692Ter	p.K692*	ENST00000377266		692	Aag/Tag	0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		64			HGNC	p.K679X		MALRD1		SNV							ENST00000454679	protein_coding			Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,SMART_domains:SM00137,Superfamily_domains:SSF49899		K/*		T		2035/4661								MALRD1,stop_gained,p.Lys679Ter,ENST00000454679,;MALRD1,stop_gained,p.Lys692Ter,ENST00000377266,;MALRD1,upstream_gene_variant,,ENST00000441070,;							HIGH	2035/4422		CJ112_HUMAN			Transcript			.	ENSP00000412763					1	
MYH13	0	LGGM	GRCh37	17	10213072	10213072	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	30	19	.	.	ENST00000418404.3:c.4732C>A	p.Arg1578Ser	p.R1578S	ENST00000418404		1578	Cgc/Agc	0	1		UPI0000DB39EA	0	NA	ENST00000252172		ENSG00000006788	7571		49	3.315		HGNC	p.R1578S		MYH13		SNV							ENST00000418404	protein_coding	getma.org/?cm=var&var=hg19,17,10213072,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576		R/S		T	medium	4822/5992		getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=R1578S	deleterious(0)					MYH13,missense_variant,p.Arg1578Ser,ENST00000418404,;MYH13,missense_variant,p.Arg1578Ser,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;							MODERATE	4732/5817	R1578S	MYH13_HUMAN			Transcript		benign(0.297)	.	ENSP00000252172		CCDS45613.1			1	
BMAL2	0	LGGM	GRCh37	12	27571128	27571128	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	26	21	.	.	ENST00000266503.5:c.1773C>G	p.Leu591=	p.L591=	ENST00000266503		591	ctC/ctG	0	1	1	UPI0000073439	0		ENST00000266503		ENSG00000029153	18984		47			HGNC	p.L577L		ARNTL2		SNV							ENST00000311001	protein_coding			hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF48		L		G		1791/2291							YES	ARNTL2,splice_region_variant,p.=,ENST00000544915,NM_020183.4;ARNTL2,splice_region_variant,p.=,ENST00000266503,;ARNTL2,splice_region_variant,p.=,ENST00000457040,;ARNTL2,splice_region_variant,p.=,ENST00000395901,NM_001248003.1,NM_001248004.1;ARNTL2,splice_region_variant,p.=,ENST00000311001,NM_001248002.1;ARNTL2,splice_region_variant,p.=,ENST00000261178,;ARNTL2,splice_region_variant,p.=,ENST00000542388,;ARNTL2,intron_variant,,ENST00000546179,NM_001248005.1;RP11-165P7.1,intron_variant,,ENST00000500498,;							LOW	1773/1911		BMAL2_HUMAN			Transcript			.	ENSP00000266503		CCDS8712.1			1	
ARHGAP20	0	LGGM	GRCh37	11	110451916	110451916	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	19	21	.	.	ENST00000260283.4:c.1754A>G	p.Tyr585Cys	p.Y585C	ENST00000260283	NM_020809.3	585	tAt/tGt	0	1	1	UPI000013D0BA	0	NA	ENST00000260283		ENSG00000137727	18357		40	2.125		HGNC	p.Y585C	rs758881950	ARHGAP20	6.15E-05	SNV							ENST00000260283	protein_coding	getma.org/?cm=var&var=hg19,11,110451916,T,C&fts=all		hmmpanther:PTHR23179,hmmpanther:PTHR23179:SF24		Y/C		C	medium	2039/6189		getma.org/?cm=msa&ty=f&p=RHG20_HUMAN&rb=572&re=1183&var=Y585C	deleterious(0)				YES	ARHGAP20,missense_variant,p.Tyr585Cys,ENST00000260283,NM_020809.3;ARHGAP20,missense_variant,p.Tyr562Cys,ENST00000524756,NM_001258415.1;ARHGAP20,missense_variant,p.Tyr559Cys,ENST00000533353,NM_001258416.1;ARHGAP20,missense_variant,p.Tyr549Cys,ENST00000527598,NM_001258418.1;ARHGAP20,missense_variant,p.Tyr549Cys,ENST00000528829,NM_001258417.1;ARHGAP20,missense_variant,p.Tyr559Cys,ENST00000357139,;ARHGAP20,missense_variant,p.Tyr128Cys,ENST00000529591,;							MODERATE	1754/3576	Y585C	RHG20_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260283	8.24E-06	CCDS31673.1			1	
TRAM1L1	0	LGGM	GRCh37	4	118005992	118005992	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	40	23	.	.	ENST00000310754.4:c.558G>C	p.Gln186His	p.Q186H	ENST00000310754	NM_152402.2	186	caG/caC	0	1	1	UPI000013F075	0	NA	ENST00000310754		ENSG00000174599	28371		63	2.515		HGNC	p.Q186H		TRAM1L1		SNV							ENST00000310754	protein_coding	getma.org/?cm=var&var=hg19,4,118005992,C,G&fts=all		PROSITE_profiles:PS50922,hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,Pfam_domain:PF03798,PIRSF_domain:PIRSF005449,SMART_domains:SM00724		Q/H		G	medium	745/2019		getma.org/?cm=msa&ty=f&p=TR1L1_HUMAN&rb=118&re=322&var=Q186H	deleterious(0)				YES	TRAM1L1,missense_variant,p.Gln186His,ENST00000310754,NM_152402.2;							MODERATE	558/1110	Q186H	TR1L1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000309402		CCDS3707.1			1	
OR52N1	0	LGGM	GRCh37	11	5809232	5809232	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	9	24	.	.	ENST00000317078.1:c.815C>T	p.Pro272Leu	p.P272L	ENST00000317078	NM_001001913.1	272	cCt/cTt	0	1	1	UPI0000041BDD	0	NA	ENST00000317078		ENSG00000181001	14853		33	3.32		HGNC	p.P272L		OR52N1		SNV							ENST00000317078	protein_coding	getma.org/?cm=var&var=hg19,11,5809232,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF107,Superfamily_domains:SSF81321		P/L		A	medium	815/963		getma.org/?cm=msa&ty=f&p=O52N1_HUMAN&rb=141&re=288&var=P272L	deleterious(0)				YES	OR52N1,missense_variant,p.Pro272Leu,ENST00000317078,NM_001001913.1;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	815/963	P272L	O52N1_HUMAN			Transcript		benign(0.443)	.	ENSP00000322823		CCDS31398.1			1	
MTOR	0	LGGM	GRCh37	1	11186831	11186831	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	25	24	.	.	ENST00000361445.4:c.6374A>G	p.Tyr2125Cys	p.Y2125C	ENST00000361445	NM_004958.3	2125	tAt/tGt	0	1	1	UPI000012ABD3	0	NA	ENST00000361445		ENSG00000198793	3942		49	3.565		HGNC	p.Y2125C		MTOR		SNV			1				ENST00000361445	protein_coding	getma.org/?cm=var&var=hg19,1,11186831,T,C&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:3.30.1010.10,Superfamily_domains:SSF56112		Y/C		C	high	6451/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=2115&re=2180&var=Y2125C	deleterious(0)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Tyr2125Cys,ENST00000361445,NM_004958.3;MTOR,missense_variant,p.Tyr330Cys,ENST00000376838,;MTOR,downstream_gene_variant,,ENST00000495435,;							MODERATE	6374/7650	Y2125C	MTOR_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000354558		CCDS127.1			1	
GGCX	0	LGGM	GRCh37	2	85779683	85779683	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	53	25	.	.	ENST00000233838.4:c.1295C>T	p.Thr432Ile	p.T432I	ENST00000233838	NM_000821.5	432	aCa/aTa	0	1	1	UPI0000000DD6	0	NA	ENST00000233838		ENSG00000115486	4247		78	2.25		HGNC	p.T432I		GGCX		SNV			1				ENST00000233838	protein_coding	getma.org/?cm=var&var=hg19,2,85779683,G,A&fts=all		hmmpanther:PTHR12639:SF5,hmmpanther:PTHR12639,Pfam_domain:PF05090		T/I		A	medium	1376/7569		getma.org/?cm=msa&ty=f&p=VKGC_HUMAN&rb=65&re=504&var=T432I	tolerated(0.12)				YES	GGCX,missense_variant,p.Thr432Ile,ENST00000233838,NM_000821.5;GGCX,missense_variant,p.Thr375Ile,ENST00000430215,NM_001142269.2;GGCX,non_coding_transcript_exon_variant,,ENST00000473665,;GGCX,intron_variant,,ENST00000465637,;GGCX,downstream_gene_variant,,ENST00000482662,;GGCX,downstream_gene_variant,,ENST00000423570,;GGCX,downstream_gene_variant,,ENST00000421496,;GGCX,downstream_gene_variant,,ENST00000428479,;							MODERATE	1295/2277	T432I	VKGC_HUMAN			Transcript		possibly_damaging(0.596)	.	ENSP00000233838		CCDS1978.1			1	
RIN2	0	LGGM	GRCh37	20	19941346	19941346	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	41	25	.	.	ENST00000255006.6:c.501C>G	p.Ile167Met	p.I167M	ENST00000255006	NM_018993.3	167	atC/atG	0	1	1	UPI00004709D0	0	getma.org/pdb.php?prot=RIN2_HUMAN&from=97&to=190&var=I118M	ENST00000255006		ENSG00000132669	18750		66	0.64		HGNC	p.I118M	COSM419035,COSM1133643	RIN2		SNV			1			1,1	ENST00000440354	protein_coding	getma.org/?cm=var&var=hg19,20,19941346,C,G&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF51,Gene3D:3.30.505.10,Superfamily_domains:SSF55550		I/M		G	neutral	650/4505		getma.org/?cm=msa&ty=f&p=RIN2_HUMAN&rb=97&re=190&var=I118M	tolerated(0.27)				YES	RIN2,missense_variant,p.Ile167Met,ENST00000255006,NM_018993.3,NM_001242581.1;RIN2,missense_variant,p.Ile118Met,ENST00000440354,;RIN2,splice_region_variant,,ENST00000484638,;RIN2,splice_region_variant,,ENST00000467569,;RIN2,downstream_gene_variant,,ENST00000459721,;					1,1		MODERATE	501/2835	I118M	RIN2_HUMAN			Transcript		possibly_damaging(0.495)	.	ENSP00000255006		CCDS56182.1			1	
FAM193B	0	LGGM	GRCh37	5	176952104	176952104	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	45	25	.	.	ENST00000514747.1:c.1378C>T	p.Pro460Ser	p.P460S	ENST00000514747	NM_001190946.1	460	Ccc/Tcc	0	1	1	UPI0001D3BB6A	0	NA	ENST00000514747		ENSG00000146067	25524		70	1.7		HGNC	p.P86S		FAM193B		SNV							ENST00000329540	protein_coding	getma.org/?cm=var&var=hg19,5,176952104,G,A&fts=all		hmmpanther:PTHR15109,hmmpanther:PTHR15109:SF3		P/S		A	low	1427/2913		getma.org/?cm=msa&ty=f&p=F193B_HUMAN&rb=1&re=900&var=P540S	deleterious(0)	D6RDZ2_HUMAN,D6RC29_HUMAN,D6RAX9_HUMAN			YES	FAM193B,missense_variant,p.Pro86Ser,ENST00000329540,;FAM193B,missense_variant,p.Pro427Ser,ENST00000443375,;FAM193B,missense_variant,p.Pro460Ser,ENST00000514747,NM_001190946.1;FAM193B,missense_variant,p.Pro146Ser,ENST00000524677,;FAM193B,downstream_gene_variant,,ENST00000508298,;FAM193B,upstream_gene_variant,,ENST00000505241,;FAM193B,upstream_gene_variant,,ENST00000504130,;FAM193B,3_prime_UTR_variant,,ENST00000506955,;FAM193B,3_prime_UTR_variant,,ENST00000510479,;FAM193B,3_prime_UTR_variant,,ENST00000510163,;FAM193B,non_coding_transcript_exon_variant,,ENST00000505569,;FAM193B,non_coding_transcript_exon_variant,,ENST00000513502,;FAM193B,upstream_gene_variant,,ENST00000507212,;FAM193B,upstream_gene_variant,,ENST00000513282,;FAM193B,upstream_gene_variant,,ENST00000506879,;							MODERATE	1378/2469	P540S	F193B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000422131		CCDS54954.1			1	
DIS3	0	LGGM	GRCh37	13	73346906	73346906	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	49	27	.	.	ENST00000377767.4:c.1311C>T	p.His437=	p.H437=	ENST00000377767	NM_014953.3	437	caC/caT	0	1	1	UPI0000141B79	0		ENST00000377767		ENSG00000083520	20604		76			HGNC	p.H437H	rs750328292	DIS3		SNV							ENST00000377767	protein_coding			Superfamily_domains:SSF50249,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35		H		A		1412/7371				G3V1J5_HUMAN,B3KM83_HUMAN			YES	DIS3,synonymous_variant,p.=,ENST00000377767,NM_014953.3;DIS3,synonymous_variant,p.=,ENST00000377780,NM_001128226.1;DIS3,synonymous_variant,p.=,ENST00000545453,;DIS3,non_coding_transcript_exon_variant,,ENST00000469339,;DIS3,synonymous_variant,p.=,ENST00000490646,;	0.000116						LOW	1311/2877		RRP44_HUMAN			Transcript			.	ENSP00000366997	8.24E-06	CCDS9447.1			1	
ADAM22	0	LGGM	GRCh37	7	87795260	87795260	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	54	27	.	.	ENST00000265727.7:c.2190T>A	p.Asn730Lys	p.N730K	ENST00000265727		730	aaT/aaA	0	1	1	UPI00001254DC	0	NA	ENST00000265727		ENSG00000008277	201		81	-0.235		HGNC	p.N730K		ADAM22		SNV							ENST00000265727	protein_coding	getma.org/?cm=var&var=hg19,7,87795260,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905		N/K		A	neutral	2269/2891		getma.org/?cm=msa&ty=f&p=ADA22_HUMAN&rb=652&re=851&var=N730K	tolerated(1)	Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN			YES	ADAM22,missense_variant,p.Asn730Lys,ENST00000398204,NM_021723.3,NM_016351.4;ADAM22,missense_variant,p.Asn730Lys,ENST00000398209,NM_021722.4;ADAM22,missense_variant,p.Asn730Lys,ENST00000315984,;ADAM22,missense_variant,p.Asn730Lys,ENST00000265727,;ADAM22,missense_variant,p.Asn730Lys,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,missense_variant,p.Asn697Lys,ENST00000398203,;ADAM22,missense_variant,p.Asn88Lys,ENST00000426930,;ADAM22,missense_variant,p.Asn30Lys,ENST00000413139,;							MODERATE	2190/2721	N730K	ADA22_HUMAN			Transcript		benign(0.001)	.	ENSP00000265727		CCDS47637.1			1	
ASXL2	0	LGGM	GRCh37	2	26022394	26022394	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	59	28	.	.	ENST00000435504.4:c.263C>G	p.Pro88Arg	p.P88R	ENST00000435504		88	cCg/cGg	0	1	1	UPI00001DFBE8	0	NA	ENST00000435504		ENSG00000143970	23805		87	1.15		HGNC	p.P60R		ASXL2		SNV							ENST00000336112	protein_coding	getma.org/?cm=var&var=hg19,2,26022394,G,C&fts=all		hmmpanther:PTHR13578:SF11,hmmpanther:PTHR13578		P/R		C	low	557/12878		getma.org/?cm=msa&ty=f&p=ASXL2_HUMAN&rb=1&re=200&var=P88R	deleterious(0.02)				YES	ASXL2,missense_variant,p.Pro88Arg,ENST00000435504,;ASXL2,missense_variant,p.Pro60Arg,ENST00000336112,NM_018263.4;ASXL2,5_prime_UTR_variant,,ENST00000272341,;ASXL2,non_coding_transcript_exon_variant,,ENST00000497092,;							MODERATE	263/4308	P88R	ASXL2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000391447					1	
NEB	0	LGGM	GRCh37	2	152353519	152353519	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	78	32	.	.	ENST00000397345.3:c.24329G>A	p.Gly8110Glu	p.G8110E	ENST00000397345	NM_001164508.1	8110	gGa/gAa	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		110	3.315		HGNC	p.G8110E		NEB		SNV			1				ENST00000397345	protein_coding	getma.org/?cm=var&var=hg19,2,152353519,C,T&fts=all						T	medium	-/20577		getma.org/?cm=msa&ty=f&p=F8WCP0_HUMAN&rb=8001&re=8200&var=G8110E		J3QK84_HUMAN				NEB,missense_variant,p.Gly8110Glu,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Gly8110Glu,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Gly8110Glu,ENST00000604864,;NEB,missense_variant,p.Gly8110Glu,ENST00000603639,;NEB,missense_variant,p.Gly244Glu,ENST00000397337,;NEB,missense_variant,p.Gly85Glu,ENST00000397336,;NEB,missense_variant,p.Gly256Glu,ENST00000421461,;NEB,missense_variant,p.Gly213Glu,ENST00000424585,;NEB,intron_variant,,ENST00000409198,NM_004543.4;NEB,intron_variant,,ENST00000172853,;NEB,intron_variant,,ENST00000413693,;NEB,intron_variant,,ENST00000434685,;NEB,intron_variant,,ENST00000509223,;RIF1,intron_variant,,ENST00000457745,;RIF1,intron_variant,,ENST00000484077,;NEB,intron_variant,,ENST00000498015,;RIF1,intron_variant,,ENST00000454583,;NEB,upstream_gene_variant,,ENST00000497809,;							MODIFIER	-/20010	G8110E				Transcript			.	ENSP00000172853					1	
APOB	0	LGGM	GRCh37	2	21231660	21231660	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	69	33	.	.	ENST00000233242.1:c.8080A>G	p.Arg2694Gly	p.R2694G	ENST00000233242	NM_000384.2	2694	Agg/Ggg	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		102	1.05		HGNC	p.R2694G		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21231660,T,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		R/G		C	low	8208/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=2673&re=2872&var=R2694G		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Arg2694Gly,ENST00000233242,NM_000384.2;							MODERATE	8080/13692	R2694G	APOB_HUMAN			Transcript		benign(0.006)	.	ENSP00000233242		CCDS1703.1			1	
PIK3CG	0	LGGM	GRCh37	7	106509606	106509606	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	22	33	.	.	ENST00000359195.3:c.1600C>A	p.Pro534Thr	p.P534T	ENST00000359195	NM_002649.2	534	Ccc/Acc	0	1	1	UPI00000746B8	0	getma.org/pdb.php?prot=PK3CG_HUMAN&from=521&to=542&var=P534T	ENST00000359195		ENSG00000105851	8978		55	0		HGNC	p.P534T		PIK3CG		SNV							ENST00000496166	protein_coding	getma.org/?cm=var&var=hg19,7,106509606,C,A&fts=all		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34,Superfamily_domains:SSF48371		P/T		A	neutral	1910/5377		getma.org/?cm=msa&ty=f&p=PK3CG_HUMAN&rb=491&re=572&var=P534T	tolerated(0.72)	Q24M88_HUMAN,E9PDN7_HUMAN			YES	PIK3CG,missense_variant,p.Pro534Thr,ENST00000359195,NM_002649.2,NM_001282427.1;PIK3CG,missense_variant,p.Pro534Thr,ENST00000496166,NM_001282426.1;PIK3CG,missense_variant,p.Pro534Thr,ENST00000440650,;PIK3CG,intron_variant,,ENST00000473541,;							MODERATE	1600/3309	P534T	PK3CG_HUMAN			Transcript		benign(0.007)	.	ENSP00000352121		CCDS5739.1			1	
PKHD1	0	LGGM	GRCh37	6	51497416	51497416	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	25	38	.	.	ENST00000371117.3:c.11612G>A	p.Trp3871Ter	p.W3871*	ENST00000371117	NM_138694.3	3871	tGg/tAg	0	1	1	UPI000013C4C0	0	NA	ENST00000371117		ENSG00000170927	9016		63	0		HGNC	p.W3871X		PKHD1		SNV			1				ENST00000371117	protein_coding	getma.org/?cm=var&var=hg19,6,51497416,C,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915		W/*		T	NA	11888/16282		NA					YES	PKHD1,stop_gained,p.Trp3871Ter,ENST00000371117,NM_138694.3;							HIGH	11612/12225	W3871*	PKHD1_HUMAN			Transcript			.	ENSP00000360158		CCDS4935.1			1	
FLG2	0	LGGM	GRCh37	1	152326492	152326492	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090285	H090285N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	187	39	.	.	ENST00000388718.5:c.3770C>G	p.Ser1257Cys	p.S1257C	ENST00000388718	NM_001014342.2	1257	tCc/tGc	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		226	1.905		HGNC	p.S1257C		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152326492,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24,Prints_domain:PR00487		S/C		C	medium	3843/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=S1257C					YES	FLG2,missense_variant,p.Ser1257Cys,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	3770/7176	S1257C	FILA2_HUMAN			Transcript		unknown(0)	.	ENSP00000373370		CCDS30861.1			1	
CREB3L2	0	LGGM	GRCh37	7	137569693	137569693	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	39	40	.	.	ENST00000330387.6:c.1270+48A>G		*424*	ENST00000330387	NM_194071.3			0	1	1	UPI0000457614	0		ENST00000330387		ENSG00000182158	23720		79			HGNC	p.R440G	rs759658172	CREB3L2		SNV			1				ENST00000456390	protein_coding							C		-/7412	3.06E-05						YES	CREB3L2,missense_variant,p.Arg440Gly,ENST00000456390,;CREB3L2,intron_variant,,ENST00000330387,NM_194071.3;							MODIFIER	-/1563		CR3L2_HUMAN			Transcript			.	ENSP00000329140	1.65E-05	CCDS34760.1			1	
MYH13	0	LGGM	GRCh37	17	10209867	10209867	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	68	47	.	.	ENST00000418404.3:c.5375A>T	p.Gln1792Leu	p.Q1792L	ENST00000418404		1792	cAg/cTg	0	1		UPI0000DB39EA	0	NA	ENST00000252172		ENSG00000006788	7571		115	2.685		HGNC	p.Q1792L		MYH13		SNV							ENST00000418404	protein_coding	getma.org/?cm=var&var=hg19,17,10209867,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997		Q/L		A	medium	5465/5992		getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=Q1792L	tolerated(0.06)					MYH13,missense_variant,p.Gln1792Leu,ENST00000418404,;MYH13,missense_variant,p.Gln1792Leu,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;							MODERATE	5375/5817	Q1792L	MYH13_HUMAN			Transcript		benign(0.005)	.	ENSP00000252172		CCDS45613.1			1	
MUC16	0	LGGM	GRCh37	19	9048196	9048196	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	110	49	.	.	ENST00000397910.4:c.33435A>G	p.Ser11145=	p.S11145=	ENST00000397910	NM_024690.2	11145	tcA/tcG	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		159			HGNC	p.S11145S		MUC16		SNV							ENST00000397910	protein_coding			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		S		C		33639/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	33435/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
ZNF85	0	LGGM	GRCh37	19	21131849	21131849	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	20	50	.	.	ENST00000328178.8:c.529A>G	p.Thr177Ala	p.T177A	ENST00000328178	NM_003429.4	177	Aca/Gca	0	1	1	UPI0000203897	0	getma.org/pdb.php?prot=ZNF85_HUMAN&from=160&to=184&var=T177A	ENST00000328178		ENSG00000105750	13160		70	0.795		HGNC	p.T125A		ZNF85		SNV							ENST00000595742	protein_coding	getma.org/?cm=var&var=hg19,19,21131849,A,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/A		G	neutral	642/2296		getma.org/?cm=msa&ty=f&p=ZNF85_HUMAN&rb=140&re=204&var=T177A	deleterious(0.05)	M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN			YES	ZNF85,missense_variant,p.Thr118Ala,ENST00000601023,;ZNF85,missense_variant,p.Thr177Ala,ENST00000328178,NM_003429.4,NM_001256173.1;ZNF85,missense_variant,p.Thr144Ala,ENST00000345030,;ZNF85,missense_variant,p.Thr125Ala,ENST00000596534,;ZNF85,missense_variant,p.Thr100Ala,ENST00000599064,;ZNF85,missense_variant,p.Thr125Ala,ENST00000595742,;ZNF85,missense_variant,p.Thr100Ala,ENST00000598862,;ZNF85,missense_variant,p.Thr113Ala,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000601284,;							MODERATE	529/1788	T177A	ZNF85_HUMAN			Transcript		benign(0.027)	.	ENSP00000329793		CCDS32977.1			1	
CCDC19	0	LGGM	GRCh37	1	159842875	159842875	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090285	H090285N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	32	51	.	.	ENST00000368099.4:c.1436G>A	p.Arg479Gln	p.R479Q	ENST00000368099	NM_012337.2	479	cGg/cAg	0	1	1	UPI000006F653	0	NA	ENST00000368099		ENSG00000213085	17229		83	2.035		HGNC	p.R479Q	rs764928746	CCDC19		SNV							ENST00000368099	protein_coding	getma.org/?cm=var&var=hg19,1,159842875,C,T&fts=all		Pfam_domain:PF13868,hmmpanther:PTHR15504		R/Q		T	medium	1501/1842	1.50E-05	getma.org/?cm=msa&ty=f&p=CCD19_HUMAN&rb=186&re=533&var=R479Q	deleterious(0.03)	Q05BA3_HUMAN			YES	CCDC19,missense_variant,p.Arg394Gln,ENST00000426543,;CCDC19,missense_variant,p.Arg479Gln,ENST00000368099,NM_012337.2;CCDC19,non_coding_transcript_exon_variant,,ENST00000476696,;CCDC19,non_coding_transcript_exon_variant,,ENST00000479861,;CCDC19,downstream_gene_variant,,ENST00000475911,;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,;	0.000116						MODERATE	1436/1656	R479Q	CCD19_HUMAN			Transcript		benign(0.27)	.	ENSP00000357079	1.65E-05	CCDS30914.1			1	
FLG	0	LGGM	GRCh37	1	152283131	152283131	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	261	55	.	.	ENST00000368799.1:c.4231T>C	p.Ser1411Pro	p.S1411P	ENST00000368799	NM_002016.1	1411	Tca/Cca	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		316	2.44		HGNC	p.S1411P		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152283131,A,G&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21		S/P		G	medium	4267/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1402&re=1551&var=S1411P		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Ser1411Pro,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							MODERATE	4231/12186	S1411P	FILA_HUMAN			Transcript		benign(0.307)	.	ENSP00000357789		CCDS30860.1			1	
OR2M7	0	LGGM	GRCh37	1	248487591	248487591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090285	H090285N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	52	82	.	.	ENST00000317965.2:c.280A>G	p.Met94Val	p.M94V	ENST00000317965	NM_001004691.1	94	Atg/Gtg	0	1	1	UPI000004B236	0	getma.org/pdb.php?prot=OR2M7_HUMAN&from=1&to=138&var=M94V	ENST00000317965		ENSG00000177186	19594		134	-0.91		HGNC	p.M94V	rs759299595	OR2M7		SNV							ENST00000317965	protein_coding	getma.org/?cm=var&var=hg19,1,248487591,T,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		M/V		C	neutral	309/1006	0.00012	getma.org/?cm=msa&ty=f&p=OR2M7_HUMAN&rb=1&re=138&var=M94V	tolerated(0.3)				YES	OR2M7,missense_variant,p.Met94Val,ENST00000317965,NM_001004691.1;							MODERATE	280/939	M94V	OR2M7_HUMAN			Transcript		benign(0)	.	ENSP00000324557	6.59E-05	CCDS31111.1			1	
OR2M7	0	LGGM	GRCh37	1	248487477	248487477	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090285	H090285N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	39	78	.	.	ENST00000317965.2:c.394T>C	p.Tyr132His	p.Y132H	ENST00000317965	NM_001004691.1	132	Tac/Cac	0	1	1	UPI000004B236	0	getma.org/pdb.php?prot=OR2M7_HUMAN&from=1&to=138&var=Y132H	ENST00000317965		ENSG00000177186	19594		117	3.81		HGNC	p.Y132H		OR2M7		SNV							ENST00000317965	protein_coding	getma.org/?cm=var&var=hg19,1,248487477,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		Y/H		G	high	423/1006		getma.org/?cm=msa&ty=f&p=OR2M7_HUMAN&rb=1&re=138&var=Y132H	deleterious(0)				YES	OR2M7,missense_variant,p.Tyr132His,ENST00000317965,NM_001004691.1;							MODERATE	394/939	Y132H	OR2M7_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000324557		CCDS31111.1			1	
ACAN	0	LGGM	GRCh37	15	89398731	89398732	+	frameshift_variant	Frame_Shift_Del	DEL	AC	AC	-	novel	by Submitter	H090285	H090285N.bam	AC	AC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090285N.bam, H090285T.bam	Illumina HiSeq	191	101	.	.	ENST00000439576.2:c.2915_2916del	p.Asp972AlafsTer456	p.D972Afs*456	ENST00000439576	NM_013227.3	972	gAC/g	0	1	1	UPI0001B23381	0		ENST00000439576		ENSG00000157766	319		292			HGNC	p.972_972del		ACAN		deletion			1				ENST00000559004	protein_coding			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		D/X		-		3289-3290/8840				Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,frameshift_variant,p.Asp972AlafsTer456,ENST00000439576,NM_013227.3;ACAN,frameshift_variant,p.Asp972AlafsTer456,ENST00000559004,;ACAN,frameshift_variant,p.Asp972AlafsTer456,ENST00000561243,;ACAN,frameshift_variant,p.Asp972AlafsTer456,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;ACAN,upstream_gene_variant,,ENST00000560601,;							HIGH	2915-2916/7593					Transcript			.	ENSP00000387356		CCDS53970.1			1	
TRMT10A	0	LGGM	GRCh37	4	100477369	100477369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	5	2	.	.	ENST00000273962.3:c.429G>T	p.Leu143Phe	p.L143F	ENST00000273962	NM_152292.4	143	ttG/ttT	0	1	1	UPI000006D359	0	NA	ENST00000273962		ENSG00000145331	28403		7	1.355		HGNC	p.L143F		TRMT10A		SNV			1				ENST00000514547	protein_coding	getma.org/?cm=var&var=hg19,4,100477369,C,A&fts=all		Pfam_domain:PF01746,PIRSF_domain:PIRSF016323,PROSITE_profiles:PS51675,hmmpanther:PTHR13563,hmmpanther:PTHR13563:SF6		L/F		A	low	742/3694		getma.org/?cm=msa&ty=f&p=RG9D2_HUMAN&rb=110&re=276&var=L143F	deleterious(0)	D6R954_HUMAN			YES	TRMT10A,missense_variant,p.Leu143Phe,ENST00000273962,NM_152292.4;TRMT10A,missense_variant,p.Leu143Phe,ENST00000394877,NM_001134665.1,NM_001134666.1;TRMT10A,missense_variant,p.Leu143Phe,ENST00000394876,;TRMT10A,missense_variant,p.Leu143Phe,ENST00000455368,;TRMT10A,missense_variant,p.Leu143Phe,ENST00000514547,;TRMT10A,non_coding_transcript_exon_variant,,ENST00000515831,;TRMT10A,downstream_gene_variant,,ENST00000507394,;							MODERATE	429/1020	L143F	TM10A_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000273962		CCDS3650.1			1	
CPNE7	0	LGGM	GRCh37	16	89661950	89661950	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	8	2	.	.	ENST00000268720.5:c.1703C>T	p.Pro568Leu	p.P568L	ENST00000268720	NM_014427.4	568	cCa/cTa	0	1	1	UPI0000127C17	0	NA	ENST00000268720		ENSG00000178773	2320		10	1.995		HGNC	p.P493L		CPNE7		SNV							ENST00000319518	protein_coding	getma.org/?cm=var&var=hg19,16,89661950,C,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300		P/L		T	medium	1833/2657		getma.org/?cm=msa&ty=f&p=CPNE7_HUMAN&rb=382&re=581&var=P568L	tolerated(0.24)				YES	CPNE7,missense_variant,p.Pro568Leu,ENST00000268720,NM_014427.4;CPNE7,missense_variant,p.Pro493Leu,ENST00000319518,NM_153636.2;CPNE7,downstream_gene_variant,,ENST00000529800,;CPNE7,upstream_gene_variant,,ENST00000526232,;CPNE7,non_coding_transcript_exon_variant,,ENST00000566398,;CPNE7,upstream_gene_variant,,ENST00000564421,;CPNE7,synonymous_variant,p.=,ENST00000568977,;							MODERATE	1703/1902	P568L	CPNE7_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000268720		CCDS10980.1			1	
PLEKHG1	0	LGGM	GRCh37	6	151130805	151130805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	11	2	.	.	ENST00000367328.1:c.1213C>A	p.Arg405Ser	p.R405S	ENST00000367328	NM_001029884.1	405	Cgc/Agc	0	1		UPI000015FC80	0	getma.org/pdb.php?prot=PKHG1_HUMAN&from=317&to=416&var=R405S	ENST00000358517		ENSG00000120278	20884		13	2.52		HGNC	p.R252S		PLEKHG1		SNV							ENST00000475490	protein_coding	getma.org/?cm=var&var=hg19,6,151130805,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR22826:SF90,hmmpanther:PTHR22826,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/S		A	medium	1424/7136		getma.org/?cm=msa&ty=f&p=PKHG1_HUMAN&rb=317&re=416&var=R405S	deleterious(0)	Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN				PLEKHG1,missense_variant,p.Arg405Ser,ENST00000367328,NM_001029884.1;PLEKHG1,missense_variant,p.Arg405Ser,ENST00000358517,;PLEKHG1,missense_variant,p.Arg252Ser,ENST00000475490,;							MODERATE	1213/4158	R405S	PKHG1_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000351318		CCDS34552.1			1	
IL1RAPL2	0	LGGM	GRCh37	X	105010964	105010964	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	2	.	.	ENST00000372582.1:c.1371G>C	p.Met457Ile	p.M457I	ENST00000372582	NM_017416.1	457	atG/atC	0	1	1	UPI0000073DF7	0	getma.org/pdb.php?prot=IRPL2_HUMAN&from=404&to=555&var=M457I	ENST00000372582		ENSG00000189108	5997		15	-2.11		HGNC	p.M457I		IL1RAPL2		SNV							ENST00000372582	protein_coding	getma.org/?cm=var&var=hg19,X,105010964,G,C&fts=all		PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537		M/I		C	neutral	2127/2985		getma.org/?cm=msa&ty=f&p=IRPL2_HUMAN&rb=404&re=555&var=M457I	tolerated(1)				YES	IL1RAPL2,missense_variant,p.Met457Ile,ENST00000372582,NM_017416.1;IL1RAPL2,missense_variant,p.Met457Ile,ENST00000344799,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;							MODERATE	1371/2061	M457I	IRPL2_HUMAN			Transcript		benign(0)	.	ENSP00000361663		CCDS14517.1			1	
CYB5R4	0	LGGM	GRCh37	6	84618774	84618774	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	9	2	.	.	ENST00000369681.5:c.377T>C	p.Val126Ala	p.V126A	ENST00000369681	NM_016230.3	126	gTt/gCt	0	1	1	UPI000056D3CE	0	getma.org/pdb.php?prot=NB5R4_HUMAN&from=56&to=130&var=V126A	ENST00000369681		ENSG00000065615	20147		11	3.875		HGNC	p.V92A		CYB5R4		SNV							ENST00000369679	protein_coding	getma.org/?cm=var&var=hg19,6,84618774,T,C&fts=all		PROSITE_profiles:PS50255,hmmpanther:PTHR19370:SF71,hmmpanther:PTHR19370,Gene3D:3.10.120.10,Pfam_domain:PF00173,Superfamily_domains:SSF55856,Prints_domain:PR00363		V/A		C	high	517/9252		getma.org/?cm=msa&ty=f&p=NB5R4_HUMAN&rb=56&re=130&var=V126A	deleterious(0)	B2R7W7_HUMAN			YES	CYB5R4,missense_variant,p.Val126Ala,ENST00000369681,NM_016230.3;CYB5R4,missense_variant,p.Val92Ala,ENST00000369679,;							MODERATE	377/1566	V126A	NB5R4_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000358695		CCDS5000.2			1	
SUN2	0	LGGM	GRCh37	22	39147282	39147282	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	5	2	.	.	ENST00000405018.1:c.219G>T	p.Ser73=	p.S73=	ENST00000405018	NM_001199579.1	73	tcG/tcT	0	1		UPI0000137937	0		ENST00000405510		ENSG00000100242	14210		7			HGNC	p.S73S		SUN2		SNV							ENST00000417332	protein_coding			hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911		S		A		578/4055				Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN,B0QY64_HUMAN				SUN2,synonymous_variant,p.=,ENST00000405510,NM_001199580.1;SUN2,synonymous_variant,p.=,ENST00000405018,NM_001199579.1;SUN2,synonymous_variant,p.=,ENST00000216064,NM_015374.2;SUN2,synonymous_variant,p.=,ENST00000406622,;SUN2,synonymous_variant,p.=,ENST00000411587,;SUN2,synonymous_variant,p.=,ENST00000438058,;SUN2,synonymous_variant,p.=,ENST00000456894,;SUN2,synonymous_variant,p.=,ENST00000452294,;SUN2,synonymous_variant,p.=,ENST00000439339,;SUN2,synonymous_variant,p.=,ENST00000417332,;SUN2,synonymous_variant,p.=,ENST00000420859,;SUN2,synonymous_variant,p.=,ENST00000433561,;SUN2,upstream_gene_variant,,ENST00000430185,;RP3-508I15.14,downstream_gene_variant,,ENST00000416406,;SUN2,non_coding_transcript_exon_variant,,ENST00000494273,;SUN2,non_coding_transcript_exon_variant,,ENST00000480307,;							LOW	219/2154		SUN2_HUMAN			Transcript			.	ENSP00000385740		CCDS13978.1			1	
RPGR	0	LGGM	GRCh37	X	38158222	38158222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	16	2	.	.	ENST00000378505.2:c.1232G>T	p.Arg411Leu	p.R411L	ENST00000378505	NM_001034853.1	411	cGg/cTg	0	1		UPI0000134632	0	NA	ENST00000339363		ENSG00000156313	10295		18	2.33		HGNC	p.R411L		RPGR		SNV			1				ENST00000342811	protein_coding	getma.org/?cm=var&var=hg19,X,38158222,C,A&fts=all		hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF129,Low_complexity_(Seg):seg		R/L		A	medium	1400/3686		getma.org/?cm=msa&ty=f&p=RPGR_HUMAN&rb=365&re=526&var=R411L	deleterious(0)					RPGR,missense_variant,p.Arg411Leu,ENST00000378505,NM_001034853.1;RPGR,missense_variant,p.Arg411Leu,ENST00000339363,;RPGR,missense_variant,p.Arg411Leu,ENST00000318842,NM_000328.2;RPGR,missense_variant,p.Arg411Leu,ENST00000338898,;RPGR,missense_variant,p.Arg411Leu,ENST00000342811,;RPGR,missense_variant,p.Arg100Leu,ENST00000464437,;RPGR,intron_variant,,ENST00000309513,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,missense_variant,p.Arg411Leu,ENST00000482855,;RPGR,missense_variant,p.Arg411Leu,ENST00000474584,;RPGR,non_coding_transcript_exon_variant,,ENST00000494841,;							MODERATE	1232/3063	R411L	RPGR_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000343671					1	
DOLPP1	0	LGGM	GRCh37	9	131847565	131847565	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	40	3	.	.	ENST00000372546.4:c.342C>A	p.Ser114=	p.S114=	ENST00000372546	NM_020438.4	114	tcC/tcA	0	1	1	UPI000000D89F	0		ENST00000372546		ENSG00000167130	29565		43			HGNC	p.S16S		DOLPP1		SNV							ENST00000540102	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11247,Pfam_domain:PF01569,Gene3D:1.20.144.10,SMART_domains:SM00014,Superfamily_domains:SSF48317		S		A		374/2177							YES	DOLPP1,synonymous_variant,p.=,ENST00000372546,NM_020438.4;DOLPP1,synonymous_variant,p.=,ENST00000406974,NM_001135917.1;DOLPP1,synonymous_variant,p.=,ENST00000540102,;DOLPP1,missense_variant,p.Pro86His,ENST00000327812,;DOLPP1,missense_variant,p.Pro84His,ENST00000412363,;DOLPP1,non_coding_transcript_exon_variant,,ENST00000480255,;							LOW	342/717		DOPP1_HUMAN			Transcript			.	ENSP00000361625		CCDS6918.1			1	
HSD17B6	0	LGGM	GRCh37	12	57167813	57167813	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	37	3	.	.	ENST00000554643.1:c.177G>T	p.Ala59=	p.A59=	ENST00000554643		59	gcG/gcT	0	1		UPI000004C789	0		ENST00000322165		ENSG00000025423	23316		40			HGNC	p.A59A		HSD17B6		SNV							ENST00000322165	protein_coding			hmmpanther:PTHR24316:SF280,hmmpanther:PTHR24316,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		A		T		287/1512				G3V508_HUMAN,G3V3Y9_HUMAN				HSD17B6,synonymous_variant,p.=,ENST00000554643,;HSD17B6,synonymous_variant,p.=,ENST00000555805,;HSD17B6,synonymous_variant,p.=,ENST00000554150,;HSD17B6,synonymous_variant,p.=,ENST00000555159,;HSD17B6,synonymous_variant,p.=,ENST00000322165,NM_003725.2;HSD17B6,synonymous_variant,p.=,ENST00000554155,;HSD17B6,synonymous_variant,p.=,ENST00000556650,;HSD17B6,downstream_gene_variant,,ENST00000556481,;							LOW	177/954		H17B6_HUMAN			Transcript			.	ENSP00000318631		CCDS8925.1			1	
HNRNPUL2	0	LGGM	GRCh37	11	62484489	62484489	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	38	3	.	.	ENST00000301785.5:c.1953G>A	p.Arg651=	p.R651=	ENST00000301785	NM_001079559.2	651	cgG/cgA	0	1	1	UPI0000161949	0		ENST00000301785		ENSG00000214753	25451		41			HGNC	p.R651R		HNRNPUL2		SNV							ENST00000403734	protein_coding			hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF43,Low_complexity_(Seg):seg		R		T		2146/5106							YES	HNRNPUL2,synonymous_variant,p.=,ENST00000301785,NM_001079559.2;HNRNPUL2-BSCL2,synonymous_variant,p.=,ENST00000403734,;							LOW	1953/2244		HNRL2_HUMAN			Transcript			.	ENSP00000301785		CCDS41659.1			1	
PIGO	0	LGGM	GRCh37	9	35092699	35092699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	37	3	.	.	ENST00000378617.3:c.1185G>T	p.Gln395His	p.Q395H	ENST00000378617	NM_032634.3	395	caG/caT	0	1	1	UPI0000048EF6	0	NA	ENST00000378617		ENSG00000165282	23215		40	0.22		HGNC	p.Q395H		PIGO		SNV			1				ENST00000298004	protein_coding	getma.org/?cm=var&var=hg19,9,35092699,C,A&fts=all		hmmpanther:PTHR23071		Q/H		A	neutral	1580/4066		getma.org/?cm=msa&ty=f&p=PIGO_HUMAN&rb=319&re=518&var=Q395H	tolerated(0.49)				YES	PIGO,missense_variant,p.Gln395His,ENST00000378617,NM_032634.3;PIGO,missense_variant,p.Gln395His,ENST00000341666,;PIGO,missense_variant,p.Gln395His,ENST00000298004,NM_001201484.1;PIGO,missense_variant,p.Gln395His,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,;							MODERATE	1185/3270	Q395H	PIGO_HUMAN			Transcript		benign(0.001)	.	ENSP00000367880		CCDS6575.1			1	
BCL3	0	LGGM	GRCh37	19	45254610	45254610	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	43	3	.	.	ENST00000164227.5:c.383C>T	p.Ala128Val	p.A128V	ENST00000164227	NM_005178.4	128	gCc/gTc	0	1	1	UPI0000D4AF29	0	NA	ENST00000164227		ENSG00000069399	998		46	0.895		HGNC	p.A128V		BCL3		SNV							ENST00000164227	protein_coding	getma.org/?cm=var&var=hg19,19,45254610,C,T&fts=all		hmmpanther:PTHR24118:SF44,hmmpanther:PTHR24118		A/V		T	low	627/2038		getma.org/?cm=msa&ty=f&p=BCL3_HUMAN&rb=77&re=133&var=A128V	deleterious(0)				YES	BCL3,missense_variant,p.Ala128Val,ENST00000164227,NM_005178.4;BCL3,missense_variant,p.Ala12Val,ENST00000444487,;BCL3,downstream_gene_variant,,ENST00000487394,;BCL3,upstream_gene_variant,,ENST00000473468,;BCL3,non_coding_transcript_exon_variant,,ENST00000403534,;BCL3,upstream_gene_variant,,ENST00000464319,;							MODERATE	383/1365	A128V	BCL3_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000164227		CCDS12642.2			1	
NCKAP5L	0	LGGM	GRCh37	12	50189302	50189302	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	7	3	.	.	ENST00000335999.6:c.2341C>T	p.Arg781Trp	p.R781W	ENST00000335999	NM_001037806.3	781	Cgg/Tgg	0	1	1	UPI00006C1298	0	NA	ENST00000335999		ENSG00000167566	29321		10	1.355		HGNC	p.R781W	rs771581280	NCKAP5L	0.000114	SNV							ENST00000335999	protein_coding	getma.org/?cm=var&var=hg19,12,50189302,G,A&fts=all		hmmpanther:PTHR21740		R/W		A	low	2543/4900		getma.org/?cm=msa&ty=f&p=NCK5L_HUMAN&rb=639&re=1328&var=R777W	deleterious(0)				YES	NCKAP5L,missense_variant,p.Arg781Trp,ENST00000335999,NM_001037806.3;NCKAP5L,missense_variant,p.Arg496Trp,ENST00000433948,;							MODERATE	2341/4005	R777W	NCK5L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337998	8.33E-06	CCDS41781.2			1	
UNC45B	0	LGGM	GRCh37	17	33481755	33481755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	3	.	.	ENST00000268876.5:c.634G>T	p.Ala212Ser	p.A212S	ENST00000268876	NM_173167.2	212	Gcc/Tcc	0	1	1	UPI0000074455	0	getma.org/pdb.php?prot=UN45B_HUMAN&from=111&to=270&var=A212S	ENST00000268876		ENSG00000141161	14304		15	0.955		HGNC	p.A212S		UNC45B		SNV			1				ENST00000378449	protein_coding	getma.org/?cm=var&var=hg19,17,33481755,G,T&fts=all		hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		A/S		T	low	731/5679		getma.org/?cm=msa&ty=f&p=UN45B_HUMAN&rb=111&re=270&var=A212S	tolerated(1)				YES	UNC45B,missense_variant,p.Ala212Ser,ENST00000268876,NM_173167.2;UNC45B,missense_variant,p.Ala212Ser,ENST00000433649,NM_001033576.1,NM_001267052.1;UNC45B,missense_variant,p.Ala212Ser,ENST00000394570,;UNC45B,missense_variant,p.Ala212Ser,ENST00000378449,;UNC45B,missense_variant,p.Ala212Ser,ENST00000591048,;							MODERATE	634/2796	A212S	UN45B_HUMAN			Transcript		benign(0.001)	.	ENSP00000268876		CCDS11292.1			1	
MANSC4	0	LGGM	GRCh37	12	27924174	27924174	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	39	3	.	.	ENST00000381273.3:c.36G>T	p.Leu12Phe	p.L12F	ENST00000381273	NM_001146221.1	12	ttG/ttT	0	1	1	UPI00019912E6	0	NA	ENST00000381273		ENSG00000205693	40023		42	0.975		HGNC	p.L12F		MANSC4		SNV							ENST00000381273	protein_coding	getma.org/?cm=var&var=hg19,12,27924174,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF10		L/F		A	low	36/1023		getma.org/?cm=msa&ty=f&p=MANS4_HUMAN&rb=1&re=200&var=L12F	deleterious(0.03)				YES	MANSC4,missense_variant,p.Leu12Phe,ENST00000381273,NM_001146221.1;							MODERATE	36/1023	L12F	MANS4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000370673		CCDS53770.1			1	
ATF7IP	0	LGGM	GRCh37	12	14634068	14634068	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	46	3	.	.	ENST00000261168.4:c.3229C>A	p.Arg1077=	p.R1077=	ENST00000261168	NM_018179.3	1077	Cga/Aga	0	1	1	UPI00001FB6B1	0		ENST00000261168		ENSG00000171681	20092		49			HGNC	p.R1076R		ATF7IP		SNV							ENST00000543189	protein_coding			hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210		R		A		3382/4656				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			YES	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.=,ENST00000543189,NM_001286515.1;ATF7IP,synonymous_variant,p.=,ENST00000540793,;ATF7IP,synonymous_variant,p.=,ENST00000535738,;ATF7IP,downstream_gene_variant,,ENST00000537653,;ATF7IP,downstream_gene_variant,,ENST00000535179,;							LOW	3229/3813		MCAF1_HUMAN			Transcript			.	ENSP00000261168		CCDS8663.1			1	
IQCF2	0	LGGM	GRCh37	3	51897252	51897252	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	43	3	.	.	ENST00000333127.3:c.361C>A	p.Gln121Lys	p.Q121K	ENST00000333127	NM_203424.1	121	Cag/Aag	0	1	1	UPI000007437F	0	NA	ENST00000333127		ENSG00000184345	31815		46	1.525		HGNC	p.Q121K		IQCF2		SNV							ENST00000333127	protein_coding	getma.org/?cm=var&var=hg19,3,51897252,C,A&fts=all		hmmpanther:PTHR21633,hmmpanther:PTHR21633:SF4,PROSITE_profiles:PS50096		Q/K		A	low	390/578		getma.org/?cm=msa&ty=f&p=IQCF2_HUMAN&rb=99&re=128&var=Q121K	deleterious(0.03)				YES	IQCF2,missense_variant,p.Gln121Lys,ENST00000333127,NM_203424.1;IQCF2,non_coding_transcript_exon_variant,,ENST00000429548,;							MODERATE	361/495	Q121K	IQCF2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000329904		CCDS2835.1			1	
BBS10	0	LGGM	GRCh37	12	76741085	76741085	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	3	.	.	ENST00000393262.3:c.680G>A	p.Gly227Asp	p.G227D	ENST00000393262	NM_024685.3	227	gGc/gAc	0	1	1	UPI0000D720FE	0	NA	ENST00000393262		ENSG00000179941	26291		20	2.28		HGNC	p.G227D		BBS10		SNV			1				ENST00000393262	protein_coding	getma.org/?cm=var&var=hg19,12,76741085,C,T&fts=all		hmmpanther:PTHR14667,Pfam_domain:PF00118		G/D		T	medium	764/3595		getma.org/?cm=msa&ty=f&p=BBS10_HUMAN&rb=138&re=430&var=G227D	deleterious(0)				YES	BBS10,missense_variant,p.Gly227Asp,ENST00000393262,NM_024685.3;OSBPL8,downstream_gene_variant,,ENST00000261183,NM_020841.4;OSBPL8,downstream_gene_variant,,ENST00000393249,;							MODERATE	680/2172	G227D	BBS10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376946		CCDS9014.2			1	
A1BG	0	LGGM	GRCh37	19	58863856	58863856	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	45	3	.	.	ENST00000263100.3:c.406A>G	p.Thr136Ala	p.T136A	ENST00000263100	NM_130786.3	136	Aca/Gca	0	1	1	UPI0000167B10	0	NA	ENST00000263100		ENSG00000121410	5		48	2.99		HGNC	p.T136A		A1BG		SNV							ENST00000263100	protein_coding	getma.org/?cm=var&var=hg19,19,58863856,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF3,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/A		C	medium	468/1722		getma.org/?cm=msa&ty=f&p=A1BG_HUMAN&rb=118&re=202&var=T136A	tolerated(0.48)	Q7Z3U3_HUMAN			YES	A1BG,missense_variant,p.Thr136Ala,ENST00000263100,NM_130786.3;A1BG,missense_variant,p.Thr90Ala,ENST00000600966,;ZNF497,downstream_gene_variant,,ENST00000311044,NM_198458.2;ZNF497,downstream_gene_variant,,ENST00000425453,NM_001207009.1;ZNF497,downstream_gene_variant,,ENST00000595763,;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,;							MODERATE	406/1488	T136A	A1BG_HUMAN			Transcript		benign(0.081)	.	ENSP00000263100		CCDS12976.1			1	
HTR3B	0	LGGM	GRCh37	11	113813736	113813736	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	35	3	.	.	ENST00000260191.2:c.729C>A	p.Val243=	p.V243=	ENST00000260191	NM_006028.4	243	gtC/gtA	0	1	1	UPI0000073DA3	0		ENST00000260191		ENSG00000149305	5298		38			HGNC	p.V243V		HTR3B		SNV							ENST00000260191	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF53,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:1.20.120.370,Superfamily_domains:SSF90112,Prints_domain:PR00252		V		A		986/2011				B3VRP0_HUMAN,B3VRN0_HUMAN,B3VRM0_HUMAN,B3VRL5_HUMAN,B3VRL0_HUMAN,B3VRK5_HUMAN			YES	HTR3B,synonymous_variant,p.=,ENST00000260191,NM_006028.4;HTR3B,synonymous_variant,p.=,ENST00000537778,;HTR3B,intron_variant,,ENST00000543092,;							LOW	729/1326		5HT3B_HUMAN			Transcript			.	ENSP00000260191		CCDS8364.1			1	
KDM4B	0	LGGM	GRCh37	19	5111407	5111407	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	45	3	.	.	ENST00000159111.4:c.1115+578G>A		*372*	ENST00000159111	NM_015015.2			0	1	1	UPI00001C202B	0		ENST00000159111		ENSG00000127663	29136		48			HGNC	p.P379P		KDM4B		SNV							ENST00000381759	protein_coding							A		-/5593				K7ES23_HUMAN			YES	KDM4B,synonymous_variant,p.=,ENST00000381759,;KDM4B,intron_variant,,ENST00000159111,NM_015015.2;KDM4B,intron_variant,,ENST00000536461,;KDM4B,intron_variant,,ENST00000588361,;KDM4B,downstream_gene_variant,,ENST00000588961,;KDM4B,upstream_gene_variant,,ENST00000592159,;KDM4B,intron_variant,,ENST00000589104,;							MODIFIER	-/3291		KDM4B_HUMAN			Transcript			.	ENSP00000159111		CCDS12138.1			1	
APC	0	LGGM	GRCh37	5	112173578	112173578	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	31	3	.	.	ENST00000257430.4:c.2287G>A	p.Glu763Lys	p.E763K	ENST00000257430	NM_000038.5	763	Gaa/Aaa	0	1		UPI000013CF60	0	NA	ENST00000257430		ENSG00000134982	583		34	2.34		HGNC	p.E745K		APC		SNV			1				ENST00000507379	protein_coding	getma.org/?cm=var&var=hg19,5,112173578,G,A&fts=all		hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11		E/K		A	medium	2343/10701		getma.org/?cm=msa&ty=f&p=APC_HUMAN&rb=732&re=931&var=E763K		Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN				APC,missense_variant,p.Glu763Lys,ENST00000457016,;APC,missense_variant,p.Glu763Lys,ENST00000257430,NM_000038.5;APC,missense_variant,p.Glu763Lys,ENST00000508376,NM_001127510.2;APC,missense_variant,p.Glu763Lys,ENST00000512211,;APC,missense_variant,p.Glu745Lys,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,;							MODERATE	2287/8532	E763K	APC_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000257430		CCDS4107.1			1	
RGMA	0	LGGM	GRCh37	15	93616181	93616181	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	8	3	.	.	ENST00000557301.1:c.118C>T	p.Pro40Ser	p.P40S	ENST00000557301	NM_001166283.1	40	Ccg/Tcg	0	1		UPI0000E59D38	0	NA	ENST00000329082		ENSG00000182175	30308		11	0		HGNC	p.P16S		RGMA		SNV							ENST00000557420	protein_coding	getma.org/?cm=var&var=hg19,15,93616181,G,A&fts=all		hmmpanther:PTHR31428:SF4,hmmpanther:PTHR31428		P/S		A	neutral	366/3216		getma.org/?cm=msa&ty=f&p=RGMA_HUMAN&rb=22&re=223&var=P32S		G3V4C2_HUMAN,F5H7G2_HUMAN,F5GZU6_HUMAN				RGMA,missense_variant,p.Pro32Ser,ENST00000329082,NM_020211.2;RGMA,missense_variant,p.Pro16Ser,ENST00000543599,NM_001166287.1;RGMA,missense_variant,p.Pro16Ser,ENST00000425933,NM_001166288.1,NM_001166289.1;RGMA,missense_variant,p.Pro16Ser,ENST00000542321,NM_001166286.1;RGMA,missense_variant,p.Pro16Ser,ENST00000556087,;RGMA,missense_variant,p.Pro40Ser,ENST00000557301,NM_001166283.1;RGMA,missense_variant,p.Pro16Ser,ENST00000557420,;RGMA,missense_variant,p.Pro16Ser,ENST00000555598,;RGMA,5_prime_UTR_variant,,ENST00000538818,;RGMA,5_prime_UTR_variant,,ENST00000556658,;RGMA,downstream_gene_variant,,ENST00000556950,;RGMA,missense_variant,p.Pro16Ser,ENST00000554387,;RGMA,non_coding_transcript_exon_variant,,ENST00000557608,;							MODERATE	94/1353	P32S	RGMA_HUMAN			Transcript		benign(0.062)	.	ENSP00000330005		CCDS45357.1			1	
GLB1L3	0	LGGM	GRCh37	11	134183870	134183870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	44	3	.	.	ENST00000431683.2:c.1615C>A	p.Leu539Met	p.L539M	ENST00000431683	NM_001080407.2	539	Ctg/Atg	0	1	1	UPI0001633637	0	getma.org/pdb.php?prot=GLBL3_HUMAN&from=393&to=592&var=L539M	ENST00000431683		ENSG00000166105	25147		47	3.43		HGNC	p.L539M		GLB1L3		SNV							ENST00000431683	protein_coding	getma.org/?cm=var&var=hg19,11,134183870,C,A&fts=all		Gene3D:2.60.120.260,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59,Superfamily_domains:SSF49785		L/M		A	medium	1615/2583		getma.org/?cm=msa&ty=f&p=GLBL3_HUMAN&rb=393&re=592&var=L539M	deleterious(0)				YES	GLB1L3,missense_variant,p.Leu539Met,ENST00000431683,NM_001080407.2;GLB1L3,3_prime_UTR_variant,,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,;							MODERATE	1615/1962	L539M	GLBL3_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000396615		CCDS44780.1			1	
PELI2	0	LGGM	GRCh37	14	56755284	56755284	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	15	3	.	.	ENST00000267460.4:c.439A>C	p.Arg147=	p.R147=	ENST00000267460	NM_021255.2	147	Agg/Cgg	0	1	1	UPI0000062262	0		ENST00000267460		ENSG00000139946	8828		18			HGNC	p.R147R		PELI2		SNV							ENST00000267460	protein_coding			hmmpanther:PTHR12098:SF5,hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886		R		C		725/5909				Q659D8_HUMAN,H0YNF4_HUMAN,H0YK56_HUMAN			YES	PELI2,synonymous_variant,p.=,ENST00000267460,NM_021255.2;PELI2,synonymous_variant,p.=,ENST00000559044,;PELI2,synonymous_variant,p.=,ENST00000561019,;							LOW	439/1263		PELI2_HUMAN			Transcript			.	ENSP00000267460		CCDS9726.1			1	
AC136604.1	0	LGGM	GRCh37	5	179078953	179078953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	68	4	.	.	ENST00000425471.1:c.436C>A	p.Pro146Thr	p.P146T	ENST00000425471		146	Cct/Act	0	1	1	UPI0001AE74B2	0		ENST00000425471		ENSG00000228259			72			Clone_based_ensembl_gene	p.P146T		AC136604.1		SNV							ENST00000425471	protein_coding			hmmpanther:PTHR21859,hmmpanther:PTHR21859:SF10,Low_complexity_(Seg):seg		P/T		A		436/777			tolerated(0.13)	I3L0D6_HUMAN			YES	AC136604.1,missense_variant,p.Pro146Thr,ENST00000425471,;AC136604.1,intron_variant,,ENST00000418535,;							MODERATE	436/777		YE027_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000388857					1	
RPTOR	0	LGGM	GRCh37	17	78897353	78897353	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	15	4	.	.	ENST00000306801.3:c.2688G>A	p.Pro896=	p.P896=	ENST00000306801	NM_020761.2	896	ccG/ccA	0	1	1	UPI000007000F	0		ENST00000306801		ENSG00000141564	30287	8.75E-05	19			HGNC	p.P56P	rs772111434	RPTOR		SNV							ENST00000576366	protein_coding			hmmpanther:PTHR12848		P		A		3050/6408				Q6DKI0_HUMAN			YES	RPTOR,synonymous_variant,p.=,ENST00000306801,NM_020761.2;RPTOR,synonymous_variant,p.=,ENST00000544334,NM_001163034.1;RPTOR,synonymous_variant,p.=,ENST00000576366,;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;							LOW	2688/4008		RPTOR_HUMAN			Transcript			.	ENSP00000307272	8.25E-06	CCDS11773.1			1	
EGF	0	LGGM	GRCh37	4	110883036	110883036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	50	4	.	.	ENST00000265171.5:c.1207C>A	p.Arg403Ser	p.R403S	ENST00000265171	NM_001963.4	403	Cgc/Agc	0	1	1	UPI000013D5C8	0	NA	ENST00000265171		ENSG00000138798	3229		54	-1.52		HGNC	p.R403S		EGF		SNV			1				ENST00000503392	protein_coding	getma.org/?cm=var&var=hg19,4,110883036,C,A&fts=all		Superfamily_domains:SSF57184,Superfamily_domains:SSF57184,SMART_domains:SM00181,PIRSF_domain:PIRSF001778,Gene3D:2.10.25.10,hmmpanther:PTHR10529		R/S		A	neutral	1652/4880		getma.org/?cm=msa&ty=f&p=EGF_HUMAN&rb=397&re=437&var=R403S	tolerated(1)	Q6QBS2_HUMAN			YES	EGF,missense_variant,p.Arg403Ser,ENST00000265171,NM_001963.4,NM_001178130.1;EGF,missense_variant,p.Arg361Ser,ENST00000509793,NM_001178131.1;EGF,missense_variant,p.Arg403Ser,ENST00000503392,;EGF,non_coding_transcript_exon_variant,,ENST00000504633,;							MODERATE	1207/3624	R403S	EGF_HUMAN			Transcript		benign(0)	.	ENSP00000265171		CCDS3689.1			1	
DMRT3	0	LGGM	GRCh37	9	977203	977203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	8	4	.	.	ENST00000190165.2:c.202A>T	p.Met68Leu	p.M68L	ENST00000190165	NM_021240.3	68	Atg/Ttg	0	1	1	UPI0000073634	0	getma.org/pdb.php?prot=DMRT3_HUMAN&from=25&to=71&var=M68L	ENST00000190165		ENSG00000064218	13909		12	2.76		HGNC	p.M68L		DMRT3		SNV							ENST00000190165	protein_coding	getma.org/?cm=var&var=hg19,9,977203,A,T&fts=all		PROSITE_profiles:PS50809,hmmpanther:PTHR12322:SF62,hmmpanther:PTHR12322,Gene3D:1lpvA00,Pfam_domain:PF00751,SMART_domains:SM00301,Superfamily_domains:0040609		M/L		T	medium	240/2183		getma.org/?cm=msa&ty=f&p=DMRT3_HUMAN&rb=25&re=71&var=M68L	deleterious(0.05)	Q9NRR0_HUMAN			YES	DMRT3,missense_variant,p.Met68Leu,ENST00000190165,NM_021240.3;							MODERATE	202/1419	M68L	DMRT3_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000190165		CCDS6443.1			1	
CXCR1	0	LGGM	GRCh37	2	219028884	219028884	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	32	4	.	.	ENST00000295683.2:c.1051T>C	p.Ter351ArgextTer25	p.*351Rext*25	ENST00000295683	NM_000634.2	351	Tga/Cga	0	1	1	UPI0000050457	0		ENST00000295683		ENSG00000163464	6026		36			HGNC	p.X351R		CXCR1		SNV							ENST00000295683	protein_coding					*/R		G		1172/2488							YES	CXCR1,stop_lost,p.Ter351ArgextTer25,ENST00000295683,NM_000634.2;							HIGH	1051/1053		CXCR1_HUMAN			Transcript			.	ENSP00000295683		CCDS2409.1			1	
CHD2	0	LGGM	GRCh37	15	93563426	93563426	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	4	.	.	ENST00000394196.4:c.5091G>A	p.Lys1697=	p.K1697=	ENST00000394196	NM_001271.3	1697	aaG/aaA	0	1	1	UPI0000E8A85C	0		ENST00000394196		ENSG00000173575	1917		17			HGNC	p.K1697K		CHD2		SNV			1				ENST00000557381	protein_coding					K		A		6159/9857				Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,synonymous_variant,p.=,ENST00000394196,NM_001271.3;CHD2,synonymous_variant,p.=,ENST00000557381,;CHD2,downstream_gene_variant,,ENST00000557759,;							LOW	5091/5487		CHD2_HUMAN			Transcript			.	ENSP00000377747		CCDS10374.2			1	
HHIP	0	LGGM	GRCh37	4	145629385	145629385	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	19	4	.	.	ENST00000296575.3:c.1223T>A	p.Ile408Lys	p.I408K	ENST00000296575	NM_022475.2	408	aTa/aAa	0	1	1	UPI0000071302	0	getma.org/pdb.php?prot=HHIP_HUMAN&from=226&to=444&var=I408K	ENST00000296575		ENSG00000164161	14866		23	3.315		HGNC	p.I408K		HHIP		SNV			1				ENST00000296575	protein_coding	getma.org/?cm=var&var=hg19,4,145629385,T,A&fts=all		Superfamily_domains:0046203,Gene3D:2.120.10.30,Pfam_domain:PF07995,hmmpanther:PTHR19328,hmmpanther:PTHR19328:SF27		I/K		A	medium	1878/10072		getma.org/?cm=msa&ty=f&p=HHIP_HUMAN&rb=226&re=444&var=I408K	deleterious(0)				YES	HHIP,missense_variant,p.Ile408Lys,ENST00000296575,NM_022475.2;HHIP,non_coding_transcript_exon_variant,,ENST00000512791,;							MODERATE	1223/2103	I408K	HHIP_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000296575		CCDS3762.1			1	
ABCD4	0	LGGM	GRCh37	14	74756801	74756801	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	5	.	.	ENST00000356924.4:c.1348G>A	p.Asp450Asn	p.D450N	ENST00000356924	NM_005050.3	450	Gac/Aac	0	1	1	UPI000004C4C8	0	getma.org/pdb.php?prot=ABCD4_HUMAN&from=428&to=552&var=D450N	ENST00000356924		ENSG00000119688	68		17	1.14		HGNC	p.D346N		ABCD4		SNV			1				ENST00000298816	protein_coding	getma.org/?cm=var&var=hg19,14,74756801,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF25,SMART_domains:SM00382,Superfamily_domains:SSF52540		D/N		T	low	1492/3003		getma.org/?cm=msa&ty=f&p=ABCD4_HUMAN&rb=428&re=552&var=D450N	tolerated(0.49)				YES	ABCD4,missense_variant,p.Asp450Asn,ENST00000356924,NM_005050.3;ABCD4,missense_variant,p.Asp346Asn,ENST00000298816,;ABCD4,missense_variant,p.Asp62Asn,ENST00000556517,;ABCD4,downstream_gene_variant,,ENST00000557588,;ABCD4,downstream_gene_variant,,ENST00000556971,;ABCD4,upstream_gene_variant,,ENST00000555904,;AC005519.4,intron_variant,,ENST00000554532,;ABCD4,downstream_gene_variant,,ENST00000557554,;ABCD4,missense_variant,p.Asp62Asn,ENST00000481348,;ABCD4,3_prime_UTR_variant,,ENST00000481935,;ABCD4,3_prime_UTR_variant,,ENST00000553486,;ABCD4,3_prime_UTR_variant,,ENST00000553745,;ABCD4,non_coding_transcript_exon_variant,,ENST00000466822,;ABCD4,intron_variant,,ENST00000496015,;ABCD4,intron_variant,,ENST00000474270,;ABCD4,downstream_gene_variant,,ENST00000489678,;ABCD4,upstream_gene_variant,,ENST00000484380,;ABCD4,upstream_gene_variant,,ENST00000465085,;ABCD4,downstream_gene_variant,,ENST00000460308,;ABCD4,downstream_gene_variant,,ENST00000469672,;ABCD4,downstream_gene_variant,,ENST00000556119,;ABCD4,downstream_gene_variant,,ENST00000554453,;ABCD4,downstream_gene_variant,,ENST00000555617,;ABCD4,downstream_gene_variant,,ENST00000553998,;							MODERATE	1348/1821	D450N	ABCD4_HUMAN			Transcript		benign(0.027)	.	ENSP00000349396		CCDS9828.1			1	
LAMB4	0	LGGM	GRCh37	7	107707004	107707004	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	5	.	.	ENST00000388781.3:c.2488G>A	p.Asp830Asn	p.D830N	ENST00000388781	NM_007356.2	830	Gac/Aac	0	1		UPI0000198CD5	0	NA	ENST00000205386		ENSG00000091128	6491		18	0.695		HGNC	p.D830N		LAMB4		SNV							ENST00000388780	protein_coding	getma.org/?cm=var&var=hg19,7,107707004,C,T&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS50027		D/N		T	neutral	2568/5857		getma.org/?cm=msa&ty=f&p=LAMB4_HUMAN&rb=817&re=862&var=D830N	deleterious(0.03)	C9JM08_HUMAN				LAMB4,missense_variant,p.Asp830Asn,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Asp830Asn,ENST00000205386,;LAMB4,missense_variant,p.Asp830Asn,ENST00000388780,;LAMB4,upstream_gene_variant,,ENST00000422975,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475469,;LAMB4,upstream_gene_variant,,ENST00000471677,;							MODERATE	2488/5286	D830N	LAMB4_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000205386		CCDS34732.1			1	
SNX32	0	LGGM	GRCh37	11	65617409	65617409	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	10	5	.	.	ENST00000308342.6:c.160G>C	p.Ala54Pro	p.A54P	ENST00000308342	NM_152760.2	54	Gcc/Ccc	0	1	1	UPI000000DAEA	0	getma.org/pdb.php?prot=SNX32_HUMAN&from=23&to=164&var=A54P	ENST00000308342		ENSG00000172803	26423		15	1.74		HGNC	p.A54P		SNX32		SNV							ENST00000308342	protein_coding	getma.org/?cm=var&var=hg19,11,65617409,G,C&fts=all		PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF137,Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF036924,Superfamily_domains:SSF64268		A/P		C	low	585/2003		getma.org/?cm=msa&ty=f&p=SNX32_HUMAN&rb=23&re=164&var=A54P	tolerated(0.07)				YES	SNX32,missense_variant,p.Ala54Pro,ENST00000308342,NM_152760.2;CFL1,downstream_gene_variant,,ENST00000525451,;CFL1,downstream_gene_variant,,ENST00000308162,NM_005507.2;CFL1,intron_variant,,ENST00000527752,;SNX32,downstream_gene_variant,,ENST00000531795,;SNX32,non_coding_transcript_exon_variant,,ENST00000530101,;SNX32,non_coding_transcript_exon_variant,,ENST00000526972,;SNX32,non_coding_transcript_exon_variant,,ENST00000531503,;SNX32,non_coding_transcript_exon_variant,,ENST00000533298,;SNX32,non_coding_transcript_exon_variant,,ENST00000533236,;SNX32,non_coding_transcript_exon_variant,,ENST00000524729,;SNX32,non_coding_transcript_exon_variant,,ENST00000534387,;CFL1,downstream_gene_variant,,ENST00000530945,;							MODERATE	160/1212	A54P	SNX32_HUMAN			Transcript		benign(0.335)	.	ENSP00000310620		CCDS8113.2			1	
LPPR3	0	LGGM	GRCh37	19	814443	814443	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	5	.	.	ENST00000359894.2:c.906T>G	p.Ala302=	p.A302=	ENST00000359894	NM_024888.2	302	gcT/gcG	0	1		UPI0000202E6B	0		ENST00000520876		ENSG00000129951			18			Uniprot_gn	p.A302A		LPPR3		SNV							ENST00000359894	protein_coding			Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF14,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix		A		C		901/2288				K7ELK5_HUMAN				LPPR3,synonymous_variant,p.=,ENST00000359894,NM_024888.2;LPPR3,synonymous_variant,p.=,ENST00000520876,NM_001270366.1;LPPR3,synonymous_variant,p.=,ENST00000517665,;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,;MIR3187,downstream_gene_variant,,ENST00000583431,;PTBP1,downstream_gene_variant,,ENST00000586944,;PTBP1,downstream_gene_variant,,ENST00000585856,;							LOW	822/2157		LPPR3_HUMAN			Transcript			.	ENSP00000430297		CCDS58636.1			1	
SYCP2	0	LGGM	GRCh37	20	58496479	58496479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	14	5	.	.	ENST00000357552.3:c.54A>T	p.Leu18Phe	p.L18F	ENST00000357552		18	ttA/ttT	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		19	0.875		HGNC	p.L18F		SYCP2		SNV							ENST00000357552	protein_coding	getma.org/?cm=var&var=hg19,20,58496479,T,A&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		L/F		A	low	280/5567		getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=1&re=399&var=L18F	tolerated(0.05)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Leu18Phe,ENST00000357552,;SYCP2,missense_variant,p.Leu18Phe,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Leu18Phe,ENST00000446834,;SYCP2,missense_variant,p.Leu17Phe,ENST00000425931,;SYCP2,non_coding_transcript_exon_variant,,ENST00000476314,;							MODERATE	54/4593	L18F	SYCP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000350162		CCDS13482.1			1	
TMCC2	0	LGGM	GRCh37	1	205215794	205215794	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	35	5	.	.	ENST00000358024.3:c.747+4622G>T		*249*	ENST00000358024	NM_014858.3			0	1	1	UPI00002056FC	0		ENST00000358024		ENSG00000133069	24239		40			HGNC	p.R16I		TMCC2		SNV							ENST00000367159	protein_coding							T		-/3738							YES	TMCC2,missense_variant,p.Arg16Ile,ENST00000330675,;TMCC2,missense_variant,p.Arg16Ile,ENST00000367159,;TMCC2,intron_variant,,ENST00000358024,NM_014858.3;TMCC2,intron_variant,,ENST00000545499,NM_001242925.1;TMCC2,intron_variant,,ENST00000495538,;							MODIFIER	-/2130		TMCC2_HUMAN			Transcript			.	ENSP00000350718		CCDS30984.1			1	
C1orf115	0	LGGM	GRCh37	1	220869983	220869983	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	118	5	.	.	ENST00000294889.5:c.339C>T	p.Cys113=	p.C113=	ENST00000294889	NM_024709.4	113	tgC/tgT	0	1	1	UPI0000073CC0	0		ENST00000294889		ENSG00000162817	25873		123			HGNC	p.C113C	rs755646310	C1orf115	6.10E-05	SNV							ENST00000294889	protein_coding			hmmpanther:PTHR14680,hmmpanther:PTHR14680:SF1		C		T		897/3413							YES	C1orf115,synonymous_variant,p.=,ENST00000294889,NM_024709.4;							LOW	339/429		CA115_HUMAN			Transcript			.	ENSP00000294889	8.24E-06	CCDS1524.1			1	
PPP1R12A	0	LGGM	GRCh37	12	80192316	80192316	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	15	6	.	.	ENST00000450142.2:c.2049A>T	p.Lys683Asn	p.K683N	ENST00000450142	NM_002480.2	683	aaA/aaT	0	1		UPI0000073E69	0	getma.org/pdb.php?prot=MYPT1_HUMAN&from=275&to=944&var=K683N	ENST00000261207		ENSG00000058272	7618		21	2.61		HGNC	p.K683N		PPP1R12A		SNV							ENST00000261207	protein_coding	getma.org/?cm=var&var=hg19,12,80192316,T,A&fts=all		PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF20,Low_complexity_(Seg):seg		K/N		A	medium	2172/5582		getma.org/?cm=msa&ty=f&p=MYPT1_HUMAN&rb=275&re=944&var=K683N	deleterious(0)	F8VW28_HUMAN				PPP1R12A,missense_variant,p.Lys683Asn,ENST00000450142,NM_002480.2;PPP1R12A,missense_variant,p.Lys683Asn,ENST00000261207,NM_001143885.1;PPP1R12A,missense_variant,p.Lys683Asn,ENST00000437004,NM_001244990.1;PPP1R12A,missense_variant,p.Lys596Asn,ENST00000546369,NM_001143886.1;PPP1R12A,missense_variant,p.Lys627Asn,ENST00000550107,NM_001244992.1;PPP1R12A,missense_variant,p.Lys624Asn,ENST00000547330,;PPP1R12A,missense_variant,p.Lys275Asn,ENST00000553081,;PPP1R12A,missense_variant,p.Lys263Asn,ENST00000547131,;PPP1R12A,upstream_gene_variant,,ENST00000550299,;PPP1R12A,non_coding_transcript_exon_variant,,ENST00000550007,;PPP1R12A,upstream_gene_variant,,ENST00000546762,;PPP1R12A,upstream_gene_variant,,ENST00000550903,;PPP1R12A,upstream_gene_variant,,ENST00000550369,;PPP1R12A,upstream_gene_variant,,ENST00000551781,;							MODERATE	2049/3093	K683N	MYPT1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261207		CCDS44947.1			1	
COL9A1	0	LGGM	GRCh37	6	70978524	70978524	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	3	6	.	.	ENST00000357250.6:c.1270G>A	p.Gly424Ser	p.G424S	ENST00000357250	NM_001851.4	424	Ggc/Agc	0	1	1	UPI000020D14B	0	NA	ENST00000357250		ENSG00000112280	2217		9	4.06		HGNC	p.G424S		COL9A1		SNV			1				ENST00000357250	protein_coding	getma.org/?cm=var&var=hg19,6,70978524,C,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454		G/S		T	high	1429/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=415&re=474&var=G424S					YES	COL9A1,missense_variant,p.Gly424Ser,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Gly181Ser,ENST00000320755,NM_078485.3;COL9A1,missense_variant,p.Gly181Ser,ENST00000370499,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;							MODERATE	1270/2766	G424S	CO9A1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000349790		CCDS4971.1			1	
FAHD2B	0	LGGM	GRCh37	2	97751484	97751484	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	23	6	.	.	ENST00000414820.1:c.637A>T	p.Thr213Ser	p.T213S	ENST00000414820		213	Acc/Tcc	0	1		UPI000004D29E	0	getma.org/pdb.php?prot=FAH2B_HUMAN&from=107&to=314&var=T213S	ENST00000272610		ENSG00000144199	25318		29	2.18		HGNC	p.T213S		FAHD2B		SNV							ENST00000440566	protein_coding	getma.org/?cm=var&var=hg19,2,97751484,T,A&fts=all		hmmpanther:PTHR11820:SF77,hmmpanther:PTHR11820,Pfam_domain:PF01557,Gene3D:3.90.850.10,Superfamily_domains:SSF56529		T/S		A	medium	825/1305		getma.org/?cm=msa&ty=f&p=FAH2B_HUMAN&rb=107&re=314&var=T213S	tolerated(0.19)					FAHD2B,missense_variant,p.Thr213Ser,ENST00000414820,;FAHD2B,missense_variant,p.Thr213Ser,ENST00000272610,NM_199336.1;FAHD2B,missense_variant,p.Thr213Ser,ENST00000440566,;FAHD2B,downstream_gene_variant,,ENST00000468548,;FAHD2B,non_coding_transcript_exon_variant,,ENST00000463096,;FAHD2B,intron_variant,,ENST00000474849,;FAHD2B,downstream_gene_variant,,ENST00000483657,;AC018892.9,downstream_gene_variant,,ENST00000340118,;AC018892.9,downstream_gene_variant,,ENST00000445404,;							MODERATE	637/945	T213S	FAH2B_HUMAN			Transcript		benign(0.206)	.	ENSP00000272610		CCDS2030.1			1	
ARHGEF2	0	LGGM	GRCh37	1	155931988	155931988	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	45	6	.	.	ENST00000361247.4:c.1127A>T	p.Lys376Met	p.K376M	ENST00000361247	NM_001162384.1	376	aAg/aTg	0	1	1	UPI000045892C	0	getma.org/pdb.php?prot=ARHG2_HUMAN&from=239&to=431&var=K376M	ENST00000361247		ENSG00000116584	682		51	1.7		HGNC	p.K376M		ARHGEF2		SNV							ENST00000361247	protein_coding	getma.org/?cm=var&var=hg19,1,155931988,T,A&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF14,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065		K/M		A	low	1227/4149		getma.org/?cm=msa&ty=f&p=ARHG2_HUMAN&rb=239&re=431&var=K376M	deleterious(0)				YES	ARHGEF2,missense_variant,p.Lys421Met,ENST00000462460,;ARHGEF2,missense_variant,p.Lys348Met,ENST00000368316,;ARHGEF2,missense_variant,p.Lys376Met,ENST00000361247,NM_001162384.1,NM_001162383.1;ARHGEF2,missense_variant,p.Lys348Met,ENST00000313695,NM_004723.3;ARHGEF2,missense_variant,p.Lys377Met,ENST00000368315,;ARHGEF2,missense_variant,p.Lys375Met,ENST00000313667,;ARHGEF2,downstream_gene_variant,,ENST00000471589,;ARHGEF2,downstream_gene_variant,,ENST00000497907,;ARHGEF2,downstream_gene_variant,,ENST00000609707,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000474428,;ARHGEF2,intron_variant,,ENST00000477754,;ARHGEF2,downstream_gene_variant,,ENST00000476273,;ARHGEF2,non_coding_transcript_exon_variant,,ENST00000608543,;ARHGEF2,upstream_gene_variant,,ENST00000470975,;ARHGEF2,downstream_gene_variant,,ENST00000470874,;							MODERATE	1127/2961	K376M	ARHG2_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000354837		CCDS53376.1			1	
THBS1	0	LGGM	GRCh37	15	39882033	39882033	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	6	.	.	ENST00000260356.5:c.1954G>T	p.Asp652Tyr	p.D652Y	ENST00000260356	NM_003246.2	652	Gat/Tat	0	1	1	UPI00001FE219	0	getma.org/pdb.php?prot=TSP1_HUMAN&from=646&to=690&var=D652Y	ENST00000260356		ENSG00000137801	11785		19	2.585		HGNC	p.D652Y		THBS1		SNV							ENST00000260356	protein_coding	getma.org/?cm=var&var=hg19,15,39882033,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,SMART_domains:SM00181		D/Y		T	medium	2119/7775		getma.org/?cm=msa&ty=f&p=TSP1_HUMAN&rb=646&re=690&var=D652Y	deleterious(0)	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,missense_variant,p.Asp652Tyr,ENST00000260356,NM_003246.2;CTD-2033D15.1,downstream_gene_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000490247,;THBS1,downstream_gene_variant,,ENST00000478845,;THBS1,upstream_gene_variant,,ENST00000484734,;THBS1,upstream_gene_variant,,ENST00000559746,;THBS1,upstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,downstream_gene_variant,,ENST00000466755,;							MODERATE	1954/3513	D652Y	TSP1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000260356		CCDS32194.1			1	
KPRP	0	LGGM	GRCh37	1	152733798	152733798	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	6	.	.	ENST00000368773.1:c.1734T>A	p.Tyr578Ter	p.Y578*	ENST00000368773	NM_001025231.1	578	taT/taA	0	1		UPI0000199942	0	NA	ENST00000606109		ENSG00000203786	31823		23	0		HGNC	p.Y578X		KPRP		SNV							ENST00000368773	protein_coding	getma.org/?cm=var&var=hg19,1,152733798,T,A&fts=all				Y/*		A	NA	1762/2492		NA						KPRP,stop_gained,p.Tyr578Ter,ENST00000368773,NM_001025231.1;KPRP,stop_gained,p.Tyr578Ter,ENST00000606109,;							HIGH	1734/1740	Y578*	KPRP_HUMAN			Transcript			.	ENSP00000475216		CCDS30862.1			1	
CES1	0	LGGM	GRCh37	16	55860137	55860137	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	207	7	.	.	ENST00000360526.3:c.331C>T	p.Leu111Phe	p.L111F	ENST00000360526	NM_001266.4	111	Ctc/Ttc	0	1		UPI000004A443	0	getma.org/pdb.php?prot=EST1_HUMAN&from=1&to=547&var=L110F	ENST00000361503		ENSG00000198848	1863		214	1.8		HGNC	p.L110F		CES1		SNV			1				ENST00000361503	protein_coding	getma.org/?cm=var&var=hg19,16,55860137,G,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF179,Superfamily_domains:SSF53474		L/F		A	low	459/1835		getma.org/?cm=msa&ty=f&p=EST1_HUMAN&rb=1&re=547&var=L110F	tolerated(0.19)	B7Z795_HUMAN				CES1,missense_variant,p.Leu110Phe,ENST00000422046,;CES1,missense_variant,p.Leu111Phe,ENST00000360526,NM_001266.4,NM_001025195.1,NM_001025194.1;CES1,missense_variant,p.Leu110Phe,ENST00000361503,;CES1,non_coding_transcript_exon_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;CES1,intron_variant,,ENST00000565403,;							MODERATE	328/1704	L110F	EST1_HUMAN			Transcript		benign(0.072)	.	ENSP00000355193		CCDS45488.1			1	
DNAJC13	0	LGGM	GRCh37	3	132202415	132202415	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	27	7	.	.	ENST00000260818.6:c.3176C>A	p.Pro1059Gln	p.P1059Q	ENST00000260818	NM_015268.3	1059	cCa/cAa	0	1	1	UPI000022C1FD	0	NA	ENST00000260818		ENSG00000138246	30343		34	2.97		HGNC	p.P1059Q		DNAJC13		SNV			1				ENST00000260818	protein_coding	getma.org/?cm=var&var=hg19,3,132202415,C,A&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF25,Superfamily_domains:SSF48371		P/Q		A	medium	3424/7730		getma.org/?cm=msa&ty=f&p=DJC13_HUMAN&rb=1021&re=1220&var=P1059Q	deleterious(0)				YES	DNAJC13,missense_variant,p.Pro1059Gln,ENST00000260818,NM_015268.3;DNAJC13,downstream_gene_variant,,ENST00000464766,;DNAJC13,missense_variant,p.Pro156Gln,ENST00000506813,;							MODERATE	3176/6732	P1059Q	DJC13_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000260818		CCDS33857.1			1	
JAKMIP3	0	LGGM	GRCh37	10	133930740	133930740	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	31	7	.	.	ENST00000298622.4:c.295G>A	p.Glu99Lys	p.E99K	ENST00000298622	NM_001105521.2	99	Gag/Aag	0	1	1	UPI000157482F	0	NA	ENST00000298622		ENSG00000188385	23523		38	2.05		HGNC	p.E99K		JAKMIP3		SNV							ENST00000298622	protein_coding	getma.org/?cm=var&var=hg19,10,133930740,G,A&fts=all		hmmpanther:PTHR18935,hmmpanther:PTHR18935:SF5		E/K		A	medium	433/6626		getma.org/?cm=msa&ty=f&p=JKIP3_HUMAN&rb=1&re=842&var=E99K	deleterious(0)				YES	JAKMIP3,missense_variant,p.Glu99Lys,ENST00000298622,NM_001105521.2;							MODERATE	295/2535	E99K	JKIP3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000298622		CCDS44494.1			1	
TYMP	0	LGGM	GRCh37	22	50967595	50967595	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	7	.	.	ENST00000395681.1:c.387C>T	p.Leu129=	p.L129=	ENST00000395681		129	ctC/ctT	0	1		UPI000013CD32	0		ENST00000252029		ENSG00000025708	3148		20			HGNC	p.L129L	rs773716239,COSM4105211	TYMP		SNV			1			0,1	ENST00000252029	protein_coding			Gene3D:3.40.1030.10,Pfam_domain:PF00591,PIRSF_domain:PIRSF000478,hmmpanther:PTHR10515,hmmpanther:PTHR10515:SF1,Superfamily_domains:SSF52418,TIGRFAM_domain:TIGR02644		L		A		550/1630	1.54E-05			E5KRG5_HUMAN				TYMP,synonymous_variant,p.=,ENST00000252029,NM_001953.4,NM_001113755.2,NM_001257989.1,NM_001113756.2,NM_001257988.1;TYMP,synonymous_variant,p.=,ENST00000395678,;TYMP,synonymous_variant,p.=,ENST00000395680,;TYMP,synonymous_variant,p.=,ENST00000395681,;TYMP,synonymous_variant,p.=,ENST00000425169,;SCO2,upstream_gene_variant,,ENST00000543927,NM_001169109.1;SCO2,upstream_gene_variant,,ENST00000535425,NM_001169110.1;SCO2,upstream_gene_variant,,ENST00000395693,NM_005138.2;SCO2,upstream_gene_variant,,ENST00000252785,NM_001169111.1;ODF3B,downstream_gene_variant,,ENST00000329363,NM_001014440.3;ODF3B,downstream_gene_variant,,ENST00000405135,;ODF3B,downstream_gene_variant,,ENST00000401779,;ODF3B,downstream_gene_variant,,ENST00000428989,;ODF3B,downstream_gene_variant,,ENST00000403326,;SCO2,upstream_gene_variant,,ENST00000423348,;SCO2,upstream_gene_variant,,ENST00000439934,;ODF3B,downstream_gene_variant,,ENST00000437588,;CTA-384D8.36,downstream_gene_variant,,ENST00000608319,;TYMP,non_coding_transcript_exon_variant,,ENST00000487162,;TYMP,non_coding_transcript_exon_variant,,ENST00000487577,;TYMP,non_coding_transcript_exon_variant,,ENST00000476284,;ODF3B,downstream_gene_variant,,ENST00000468249,;ODF3B,downstream_gene_variant,,ENST00000463472,;ODF3B,downstream_gene_variant,,ENST00000469660,;					0,1		LOW	387/1449		TYPH_HUMAN			Transcript			.	ENSP00000252029	8.24E-06	CCDS14096.1			1	
CDH2	0	LGGM	GRCh37	18	25563011	25563011	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	48	8	.	.	ENST00000269141.3:c.2246G>A	p.Arg749Gln	p.R749Q	ENST00000269141	NM_001792.3	749	cGg/cAg	0	1	1	UPI000013D7FD	0	NA	ENST00000269141		ENSG00000170558	1759		56	2.35		HGNC	p.R718Q	rs373060189	CDH2	6.06E-05	SNV	T:0.0002			9.64E-05			ENST00000399380	protein_coding	getma.org/?cm=var&var=hg19,18,25563011,C,T&fts=all		hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Pfam_domain:PF01049		R/Q	T:0	T	medium	2670/4332	6.00E-05	getma.org/?cm=msa&ty=f&p=CADH2_HUMAN&rb=747&re=904&var=R749Q	deleterious(0.01)	C9JMH2_HUMAN,C9J126_HUMAN			YES	CDH2,missense_variant,p.Arg749Gln,ENST00000269141,NM_001792.3;CDH2,missense_variant,p.Arg718Gln,ENST00000399380,;	0.000231						MODERATE	2246/2721	R749Q	CADH2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000269141	6.59E-05	CCDS11891.1			1	
TRAV13-2	0	LGGM	GRCh37	14	22386748	22386748	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	9	8	.	.	ENST00000390439.2:c.157T>A	p.Phe53Ile	p.F53I	ENST00000390439		53	Ttc/Atc	0	1	1	UPI000011C70E	0		ENST00000390439		ENSG00000211791	12109		17			HGNC	p.F53I	rs371095776	TRAV13-2		SNV	A:0						ENST00000390439	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19433:SF64,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		F/I	A:0.0002	A		227/410	3.09E-05		deleterious(0)				YES	TRAV13-2,missense_variant,p.Phe53Ile,ENST00000390439,;							MODERATE	157/340					Transcript		probably_damaging(0.928)	.	ENSP00000438480	1.68E-05				1	
SPPL2C	0	LGGM	GRCh37	17	43924021	43924021	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	25	8	.	.	ENST00000329196.5:c.1749T>A	p.Ile583=	p.I583=	ENST00000329196	NM_175882.2	583	atT/atA	0	1	1	UPI0000EE80B4	0		ENST00000329196		ENSG00000185294	28902		33			HGNC	p.I583I		SPPL2C		SNV							ENST00000329196	protein_coding			hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF38		I		A		1766/2183							YES	SPPL2C,synonymous_variant,p.=,ENST00000329196,NM_175882.2;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;							LOW	1749/2055		SPP2C_HUMAN			Transcript			.	ENSP00000332488		CCDS32673.1			1	
NRG3	0	LGGM	GRCh37	10	84738800	84738800	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	24	8	.	.	ENST00000372141.2:c.1507G>C	p.Gly503Arg	p.G503R	ENST00000372141	NM_001165972.1	503	Ggt/Cgt	0	1		UPI000013050A	0	NA	ENST00000404547		ENSG00000185737	7999		32	0.895		HGNC	p.G153R		NRG3		SNV							ENST00000537893	protein_coding	getma.org/?cm=var&var=hg19,10,84738800,G,C&fts=all		hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18		G/R		C	low	1507/2163		getma.org/?cm=msa&ty=f&p=NRG3_HUMAN&rb=341&re=719&var=G503R	deleterious(0.01)	D9ZHP6_HUMAN				NRG3,missense_variant,p.Gly282Arg,ENST00000372142,NM_001165973.1;NRG3,missense_variant,p.Gly503Arg,ENST00000404547,;NRG3,missense_variant,p.Gly503Arg,ENST00000372141,NM_001165972.1,NM_001010848.3;NRG3,missense_variant,p.Gly333Arg,ENST00000556918,;NRG3,missense_variant,p.Gly307Arg,ENST00000404576,;NRG3,missense_variant,p.Gly153Arg,ENST00000545131,;NRG3,missense_variant,p.Gly153Arg,ENST00000537893,;NRG3,3_prime_UTR_variant,,ENST00000602794,;NRG3,3_prime_UTR_variant,,ENST00000555784,;							MODERATE	1507/2163	G503R	NRG3_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000384796					1	
PLA2R1	0	LGGM	GRCh37	2	160798368	160798368	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	8	.	.	ENST00000283243.7:c.4313A>T	p.Tyr1438Phe	p.Y1438F	ENST00000283243	NM_001195641.1	1438	tAc/tTc	0	1	1	UPI00001AEA9D	0	NA	ENST00000283243		ENSG00000153246	9042		20	2.045		HGNC	p.Y1438F		PLA2R1		SNV							ENST00000283243	protein_coding	getma.org/?cm=var&var=hg19,2,160798368,T,A&fts=all		hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803		Y/F		A	medium	4520/8526		getma.org/?cm=msa&ty=f&p=PLA2R_HUMAN&rb=1380&re=1463&var=Y1438F	tolerated(0.17)				YES	PLA2R1,missense_variant,p.Tyr1438Phe,ENST00000283243,NM_001195641.1,NM_007366.4;PLA2R1,downstream_gene_variant,,ENST00000392771,NM_001007267.2;PLA2R1,non_coding_transcript_exon_variant,,ENST00000460710,;							MODERATE	4313/4392	Y1438F	PLA2R_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000283243		CCDS33309.1			1	
GRIK5	0	LGGM	GRCh37	19	42507578	42507578	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	10	8	.	.	ENST00000262895.3:c.2420T>A	p.Ile807Asn	p.I807N	ENST00000262895	NM_002088.4	807	aTt/aAt	0	1	1	UPI000013D353	0	getma.org/pdb.php?prot=GRIK5_HUMAN&from=543&to=815&var=I807N	ENST00000262895		ENSG00000105737	4583		18	3.175		HGNC	p.I807N		GRIK5		SNV							ENST00000301218	protein_coding	getma.org/?cm=var&var=hg19,19,42507578,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,Pfam_domain:PF00060,Prints_domain:PR00177		I/N		T	medium	2420/3493		getma.org/?cm=msa&ty=f&p=GRIK5_HUMAN&rb=543&re=815&var=I807N	deleterious(0.01)				YES	GRIK5,missense_variant,p.Ile807Asn,ENST00000262895,NM_002088.4;GRIK5,missense_variant,p.Ile807Asn,ENST00000301218,;GRIK5,missense_variant,p.Ile807Asn,ENST00000593562,;GRIK5,non_coding_transcript_exon_variant,,ENST00000454993,;GRIK5,non_coding_transcript_exon_variant,,ENST00000602210,;							MODERATE	2420/2943	I807N	GRIK5_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000262895		CCDS12595.1			1	
ABCA1	0	LGGM	GRCh37	9	107568616	107568616	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	8	.	.	ENST00000374736.3:c.4370A>G	p.Gln1457Arg	p.Q1457R	ENST00000374736	NM_005502.3	1457	cAg/cGg	0	1	1	UPI000013E441	0	NA	ENST00000374736		ENSG00000165029	29		20	0.69		HGNC	p.Q1457R		ABCA1		SNV			1				ENST00000374736	protein_coding	getma.org/?cm=var&var=hg19,9,107568616,T,C&fts=all		hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		Q/R		C	neutral	4765/10494		getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1344&re=1869&var=Q1457R	tolerated(0.18)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Gln1457Arg,ENST00000374736,NM_005502.3;							MODERATE	4370/6786	Q1457R	ABCA1_HUMAN			Transcript		benign(0.02)	.	ENSP00000363868		CCDS6762.1			1	
RASA3	0	LGGM	GRCh37	13	114789819	114789819	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	31	8	.	.	ENST00000334062.7:c.616T>A	p.Cys206Ser	p.C206S	ENST00000334062	NM_007368.2	206	Tgt/Agt	0	1	1	UPI000000DBC1	0	getma.org/pdb.php?prot=RASA3_HUMAN&from=147&to=247&var=C206S	ENST00000334062		ENSG00000185989	20331		39	-1.795		HGNC	p.C174S		RASA3		SNV							ENST00000389544	protein_coding	getma.org/?cm=var&var=hg19,13,114789819,A,T&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF53,SMART_domains:SM00239,Superfamily_domains:SSF49562		C/S		T	neutral	738/4191		getma.org/?cm=msa&ty=f&p=RASA3_HUMAN&rb=147&re=247&var=C206S	tolerated(1)	F8W6X8_HUMAN			YES	RASA3,missense_variant,p.Cys206Ser,ENST00000334062,NM_007368.2;RASA3,missense_variant,p.Cys174Ser,ENST00000389544,;RASA3,3_prime_UTR_variant,,ENST00000542651,;							MODERATE	616/2505	C206S	RASA3_HUMAN			Transcript		benign(0.004)	.	ENSP00000335029		CCDS32016.1			1	
EFS	0	LGGM	GRCh37	14	23826535	23826535	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	19	8	.	.	ENST00000216733.3:c.1586A>T	p.Tyr529Phe	p.Y529F	ENST00000216733	NM_005864.3	529	tAc/tTc	0	1	1	UPI0000129D21	0	getma.org/pdb.php?prot=EFS_HUMAN&from=364&to=557&var=Y529F	ENST00000216733		ENSG00000100842	16898		27	1.36		HGNC	p.Y360F		EFS		SNV							ENST00000429593	protein_coding	getma.org/?cm=var&var=hg19,14,23826535,T,A&fts=all		Pfam_domain:PF12026,hmmpanther:PTHR10654:SF13,hmmpanther:PTHR10654		Y/F		A	low	2194/3118		getma.org/?cm=msa&ty=f&p=EFS_HUMAN&rb=364&re=557&var=Y529F	deleterious(0)				YES	EFS,missense_variant,p.Tyr529Phe,ENST00000216733,NM_005864.3;EFS,missense_variant,p.Tyr436Phe,ENST00000351354,NM_032459.2,NM_001277174.1;EFS,missense_variant,p.Tyr360Phe,ENST00000429593,;SLC22A17,upstream_gene_variant,,ENST00000354772,NM_016609.3;SLC22A17,upstream_gene_variant,,ENST00000397267,;SLC22A17,upstream_gene_variant,,ENST00000206544,NM_020372.2;SLC22A17,upstream_gene_variant,,ENST00000397260,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;SLC22A17,upstream_gene_variant,,ENST00000474057,;SLC22A17,upstream_gene_variant,,ENST00000557699,;							MODERATE	1586/1686	Y529F	EFS_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000216733		CCDS9595.1			1	
PXDN	0	LGGM	GRCh37	2	1695746	1695746	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	29	9	.	.	ENST00000252804.4:c.298A>T	p.Arg100Trp	p.R100W	ENST00000252804	NM_012293.1	100	Agg/Tgg	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=86&to=146&var=R100W	ENST00000252804		ENSG00000130508	14966		38	2.055		HGNC	p.R100W		PXDN		SNV			1				ENST00000425171	protein_coding	getma.org/?cm=var&var=hg19,2,1695746,T,A&fts=all		PROSITE_profiles:PS51450,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		R/W		A	medium	349/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=86&re=146&var=R100W	tolerated(0.08)				YES	PXDN,missense_variant,p.Arg100Trp,ENST00000252804,NM_012293.1;PXDN,missense_variant,p.Arg96Trp,ENST00000433670,;PXDN,missense_variant,p.Arg100Trp,ENST00000425171,;PXDN,missense_variant,p.Arg24Trp,ENST00000447941,;PXDN,non_coding_transcript_exon_variant,,ENST00000485177,;							MODERATE	298/4440	R100W	PXDN_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000252804		CCDS46221.1			1	
ZNF462	0	LGGM	GRCh37	9	109694600	109694600	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	10	9	.	.	ENST00000277225.5:c.6013-127C>T		*2005*	ENST00000277225				0	1	1	UPI0000470106	0		ENST00000277225		ENSG00000148143	21684		19			HGNC	p.D868D	rs564428856	ZNF462		SNV							ENST00000441147	protein_coding							T		-/10414	0.000136			U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,synonymous_variant,p.=,ENST00000457913,NM_021224.4;ZNF462,synonymous_variant,p.=,ENST00000374686,;ZNF462,synonymous_variant,p.=,ENST00000441147,;ZNF462,intron_variant,,ENST00000277225,;ZNF462,upstream_gene_variant,,ENST00000542028,;ZNF462,downstream_gene_variant,,ENST00000472574,;ZNF462,non_coding_transcript_exon_variant,,ENST00000497489,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;							MODIFIER	-/7521		ZN462_HUMAN			Transcript			.	ENSP00000277225	5.30E-05	CCDS35096.1	0.00424		1	
CSMD2	0	LGGM	GRCh37	1	34046417	34046417	+	frameshift_variant,NMD_transcript_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	9	.	.	ENST00000241312.4:c.7329del	p.Val2444CysfsTer37	p.V2444Cfs*37	ENST00000241312		2443	tcT/tc	0	1	1	UPI00004561AB	0		ENST00000241312		ENSG00000121904	19290		26			HGNC	p.S2441fs		CSMD2		deletion							ENST00000373381	nonsense_mediated_decay			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF334,SMART_domains:SM00042,Superfamily_domains:SSF49854		S/X		-		7358/13108							YES	CSMD2,frameshift_variant,p.Val2442CysfsTer37,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,frameshift_variant,p.Val2444CysfsTer37,ENST00000241312,;							HIGH	7329/10464		CSMD2_HUMAN			Transcript			.	ENSP00000241312		CCDS380.1			1	
MAST1	0	LGGM	GRCh37	19	12958210	12958210	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	9	.	.	ENST00000251472.4:c.434A>T	p.Asp145Val	p.D145V	ENST00000251472	NM_014975.2	145	gAc/gTc	0	1	1	UPI000004A042	0	NA	ENST00000251472		ENSG00000105613	19034		26	2.8		HGNC	p.D145V		MAST1		SNV							ENST00000251472	protein_coding	getma.org/?cm=var&var=hg19,19,12958210,A,T&fts=all		Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150		D/V		T	medium	473/4833		getma.org/?cm=msa&ty=f&p=MAST1_HUMAN&rb=61&re=338&var=D145V	deleterious(0)				YES	MAST1,missense_variant,p.Asp145Val,ENST00000251472,NM_014975.2;MAST1,missense_variant,p.Asp141Val,ENST00000591495,;MAST1,missense_variant,p.Asp99Val,ENST00000588379,;MAST1,upstream_gene_variant,,ENST00000590204,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000590883,;MAST1,non_coding_transcript_exon_variant,,ENST00000592713,;MAST1,upstream_gene_variant,,ENST00000589040,;							MODERATE	434/4713	D145V	MAST1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000251472		CCDS32921.1			1	
UNC13B	0	LGGM	GRCh37	9	35231130	35231130	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	10	9	.	.	ENST00000378495.3:c.66A>T	p.Thr22=	p.T22=	ENST00000378495	NM_006377.3	22	acA/acT	0	1	1	UPI0000211336	0		ENST00000378495		ENSG00000198722	12566		19			HGNC	p.T22T		UNC13B		SNV							ENST00000378495	protein_coding			hmmpanther:PTHR10480,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		T		T		288/6303							YES	UNC13B,synonymous_variant,p.=,ENST00000378495,NM_006377.3;UNC13B,synonymous_variant,p.=,ENST00000396787,;UNC13B,synonymous_variant,p.=,ENST00000378496,;UNC13B,non_coding_transcript_exon_variant,,ENST00000485086,;							LOW	66/4776		UN13B_HUMAN			Transcript			.	ENSP00000367756		CCDS6579.1			1	
CPSF2	0	LGGM	GRCh37	14	92624026	92624026	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	9	.	.	ENST00000298875.4:c.1619A>G	p.Tyr540Cys	p.Y540C	ENST00000298875	NM_017437.2	540	tAt/tGt	0	1	1	UPI0000185F22	0	NA	ENST00000298875		ENSG00000165934	2325		21	1.545		HGNC	p.Y540C	COSM160182	CPSF2		SNV						1	ENST00000298875	protein_coding	getma.org/?cm=var&var=hg19,14,92624026,A,G&fts=all		Gene3D:3.60.15.10,Pfam_domain:PF07521,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF5,Superfamily_domains:SSF56281		Y/C		G	low	1904/5301		getma.org/?cm=msa&ty=f&p=CPSF2_HUMAN&rb=527&re=569&var=Y540C	deleterious(0)	G3V3T7_HUMAN,B3KN45_HUMAN			YES	CPSF2,missense_variant,p.Tyr540Cys,ENST00000298875,NM_017437.2;CPSF2,missense_variant,p.Tyr57Cys,ENST00000555244,;CPSF2,downstream_gene_variant,,ENST00000556622,;					1		MODERATE	1619/2349	Y540C	CPSF2_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000298875		CCDS9902.1			1	
STX3	0	LGGM	GRCh37	11	59557994	59557994	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	21	9	.	.	ENST00000337979.4:c.292A>G	p.Met98Val	p.M98V	ENST00000337979	NM_001178040.1	98	Atg/Gtg	0	1	1	UPI000016786E	0	getma.org/pdb.php?prot=STX3_HUMAN&from=31&to=131&var=M98V	ENST00000337979		ENSG00000166900	11438		30	2.02		HGNC	p.M1V		STX3		SNV			1				ENST00000437946	protein_coding	getma.org/?cm=var&var=hg19,11,59557994,A,G&fts=all		Gene3D:1.20.58.70,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00804,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF34,SMART_domains:SM00503,Superfamily_domains:SSF47661		M/V		G	medium	839/3299		getma.org/?cm=msa&ty=f&p=STX3_HUMAN&rb=31&re=131&var=M98V	deleterious(0.02)	Q53YE2_HUMAN,F8W9Y0_HUMAN,E9PN33_HUMAN			YES	STX3,start_lost,p.Met1?,ENST00000437946,;STX3,missense_variant,p.Met98Val,ENST00000535361,;STX3,missense_variant,p.Met98Val,ENST00000337979,NM_001178040.1,NM_004177.4;STX3,missense_variant,p.Met67Val,ENST00000300150,;STX3,missense_variant,p.Met98Val,ENST00000529177,;STX3,missense_variant,p.Met50Val,ENST00000528805,;STX3,upstream_gene_variant,,ENST00000530221,;STX3,splice_region_variant,,ENST00000533637,;STX3,downstream_gene_variant,,ENST00000530498,;							MODERATE	292/870	M98V	STX3_HUMAN			Transcript		benign(0.06)	.	ENSP00000338562		CCDS7975.1			1	
GRIA4	0	LGGM	GRCh37	11	105795407	105795407	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	21	9	.	.	ENST00000282499.5:c.1759G>A	p.Asp587Asn	p.D587N	ENST00000282499	NM_000829.3	587	Gac/Aac	0	1	1	UPI000013DCE6	0	getma.org/pdb.php?prot=GRIA4_HUMAN&from=544&to=825&var=D587N	ENST00000282499		ENSG00000152578	4574		30	0.02		HGNC	p.D587N	rs773098887	GRIA4	0.000121	SNV							ENST00000282499	protein_coding	getma.org/?cm=var&var=hg19,11,105795407,G,A&fts=all		hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324		D/N		A	neutral	2205/5508		getma.org/?cm=msa&ty=f&p=GRIA4_HUMAN&rb=544&re=825&var=D587N	tolerated(0.57)	E9PJZ5_HUMAN			YES	GRIA4,missense_variant,p.Asp587Asn,ENST00000393127,NM_001077243.2;GRIA4,missense_variant,p.Asp587Asn,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Asp587Asn,ENST00000530497,;GRIA4,missense_variant,p.Asp587Asn,ENST00000525187,;							MODERATE	1759/2709	D587N	GRIA4_HUMAN			Transcript		benign(0.012)	.	ENSP00000282499	1.65E-05	CCDS8333.1			1	
ALDH3B2	0	LGGM	GRCh37	11	67431205	67431205	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	14	10	.	.	ENST00000349015.3:c.901A>T	p.Ser301Cys	p.S301C	ENST00000349015	NM_000695.3	301	Agc/Tgc	0	1	1	UPI000013CE83	0	getma.org/pdb.php?prot=AL3B2_HUMAN&from=4&to=347&var=S301C	ENST00000349015		ENSG00000132746	411		24	3.8		HGNC	p.S301C		ALDH3B2		SNV							ENST00000349015	protein_coding	getma.org/?cm=var&var=hg19,11,67431205,T,A&fts=all		hmmpanther:PTHR11699:SF119,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720		S/C		A	high	1340/2649		getma.org/?cm=msa&ty=f&p=AL3B2_HUMAN&rb=4&re=347&var=S301C	deleterious(0.01)	E9PKY9_HUMAN,E9PJV0_HUMAN			YES	ALDH3B2,missense_variant,p.Ser301Cys,ENST00000349015,NM_000695.3;ALDH3B2,missense_variant,p.Ser301Cys,ENST00000530069,NM_001031615.1;ALDH3B2,intron_variant,,ENST00000531248,;ALDH3B2,downstream_gene_variant,,ENST00000525827,;ALDH3B2,downstream_gene_variant,,ENST00000528756,;ALDH3B2,downstream_gene_variant,,ENST00000531881,;ALDH3B2,downstream_gene_variant,,ENST00000533962,;ALDH3B2,downstream_gene_variant,,ENST00000534425,;							MODERATE	901/1158	S301C	AL3B2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000255084		CCDS31622.1			1	
OBSCN	0	LGGM	GRCh37	1	228553781	228553781	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	24	10	.	.	ENST00000570156.2:c.21941C>A	p.Pro7314Gln	p.P7314Q	ENST00000570156	NM_001271223.2	7314	cCa/cAa	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=6357&to=6446&var=P6357Q	ENST00000422127		ENSG00000154358	15719		34	3.685		HGNC	p.P6357Q		OBSCN		SNV							ENST00000422127	protein_coding	getma.org/?cm=var&var=hg19,1,228553781,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		P/Q		A	high	19114/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=6357&re=6446&var=P6357Q						OBSCN,missense_variant,p.Pro7314Gln,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Pro3991Gln,ENST00000366707,;OBSCN,missense_variant,p.Pro6357Gln,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Pro974Gln,ENST00000441106,;OBSCN,downstream_gene_variant,,ENST00000284548,NM_052843.3;OBSCN,downstream_gene_variant,,ENST00000474237,;							MODERATE	19070/23907	P6357Q	OBSCN_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000409493		CCDS58065.1			1	
DCP1B	0	LGGM	GRCh37	12	2062038	2062038	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	33	10	.	.	ENST00000280665.6:c.1068C>T	p.Phe356=	p.F356=	ENST00000280665	NM_152640.3	356	ttC/ttT	0	1	1	UPI000013DC30	0		ENST00000280665		ENSG00000151065	24451		43			HGNC	p.F356F	rs768401152,COSM173748	DCP1B	0.000121	SNV						0,1	ENST00000280665	protein_coding			hmmpanther:PTHR16290:SF1,hmmpanther:PTHR16290		F		A		1148/2086	1.50E-05						YES	DCP1B,synonymous_variant,p.=,ENST00000280665,NM_152640.3;DCP1B,synonymous_variant,p.=,ENST00000397173,;DCP1B,synonymous_variant,p.=,ENST00000540622,;DCP1B,non_coding_transcript_exon_variant,,ENST00000541700,;DCP1B,non_coding_transcript_exon_variant,,ENST00000536665,;DCP1B,3_prime_UTR_variant,,ENST00000543381,;	0.000116				0,1		LOW	1068/1854		DCP1B_HUMAN			Transcript			.	ENSP00000280665	3.29E-05	CCDS31727.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186915802	186915802	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	75	10	.	.	ENST00000367466.3:c.1067T>A	p.Met356Lys	p.M356K	ENST00000367466	NM_024420.2	356	aTg/aAg	0	1	1	UPI0000203D76	0	getma.org/pdb.php?prot=PA24A_HUMAN&from=190&to=675&var=M356K	ENST00000367466		ENSG00000116711	9035		85	2.075		HGNC	p.M356K		PLA2G4A		SNV							ENST00000367466	protein_coding	getma.org/?cm=var&var=hg19,1,186915802,T,A&fts=all		Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00022,Superfamily_domains:SSF52151		M/K		A	medium	1219/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=190&re=675&var=M356K	deleterious(0)				YES	PLA2G4A,missense_variant,p.Met356Lys,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Met296Lys,ENST00000442353,;							MODERATE	1067/2250	M356K	PA24A_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000356436		CCDS1372.1			1	
ACCSL	0	LGGM	GRCh37	11	44069672	44069672	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	10	.	.	ENST00000378832.1:c.86T>A	p.Leu29Gln	p.L29Q	ENST00000378832	NM_001031854.2	29	cTg/cAg	0	1	1	UPI000023785D	0	NA	ENST00000378832		ENSG00000205126	34391		27	1.845		HGNC	p.L29Q		ACCSL		SNV							ENST00000527145	protein_coding	getma.org/?cm=var&var=hg19,11,44069672,T,A&fts=all				L/Q		A	low	142/1820		getma.org/?cm=msa&ty=f&p=1A1L2_HUMAN&rb=1&re=168&var=L29Q	deleterious(0)				YES	ACCSL,missense_variant,p.Leu29Gln,ENST00000378832,NM_001031854.2;ACCSL,missense_variant,p.Leu29Gln,ENST00000527145,;							MODERATE	86/1707	L29Q	1A1L2_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000368109		CCDS41636.1			1	
TMC5	0	LGGM	GRCh37	16	19477517	19477517	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	36	10	.	.	ENST00000396229.2:c.1599A>C	p.Gly533=	p.G533=	ENST00000396229	NM_001105248.1	533	ggA/ggC	0	1	1	UPI00001FEF87	0		ENST00000396229		ENSG00000103534	22999		46			HGNC	p.G533G		TMC5		SNV							ENST00000381414	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF5		G		C		2348/4917							YES	TMC5,synonymous_variant,p.=,ENST00000396229,NM_001105248.1;TMC5,synonymous_variant,p.=,ENST00000542583,NM_001261841.1;TMC5,synonymous_variant,p.=,ENST00000381414,NM_001105249.1;TMC5,synonymous_variant,p.=,ENST00000219821,NM_024780.4;TMC5,synonymous_variant,p.=,ENST00000541464,;TMC5,synonymous_variant,p.=,ENST00000561503,;TMC5,synonymous_variant,p.=,ENST00000564959,;TMC5,non_coding_transcript_exon_variant,,ENST00000567478,;							LOW	1599/3021		TMC5_HUMAN			Transcript			.	ENSP00000379531		CCDS45431.1			1	
PROSC	0	LGGM	GRCh37	8	37635501	37635501	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	9	10	.	.	ENST00000328195.3:c.707G>T	p.Gly236Val	p.G236V	ENST00000328195	NM_007198.3	236	gGa/gTa	0	1	1	UPI0000131F89	0	getma.org/pdb.php?prot=PROSC_HUMAN&from=15&to=251&var=G236V	ENST00000328195		ENSG00000147471	9457		19	4.435		HGNC	p.G236V		PROSC		SNV							ENST00000328195	protein_coding	getma.org/?cm=var&var=hg19,8,37635501,G,T&fts=all		hmmpanther:PTHR10146,Gene3D:3.20.20.10,TIGRFAM_domain:TIGR00044,Pfam_domain:PF01168,PIRSF_domain:PIRSF004848,Superfamily_domains:SSF51419		G/V		T	high	774/2556		getma.org/?cm=msa&ty=f&p=PROSC_HUMAN&rb=15&re=251&var=G236V	deleterious(0)	E5RG77_HUMAN,E5RFX7_HUMAN,D3DSW3_HUMAN			YES	PROSC,missense_variant,p.Gly236Val,ENST00000328195,NM_007198.3;PROSC,downstream_gene_variant,,ENST00000523187,;PROSC,downstream_gene_variant,,ENST00000523521,;PROSC,non_coding_transcript_exon_variant,,ENST00000522808,;PROSC,downstream_gene_variant,,ENST00000521631,;							MODERATE	707/828	G236V	PROSC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333551		CCDS6096.1			1	
NALCN	0	LGGM	GRCh37	13	101795524	101795524	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	19	10	.	.	ENST00000251127.6:c.2025T>G	p.Cys675Trp	p.C675W	ENST00000251127	NM_052867.2	675	tgT/tgG	0	1	1	UPI000004EBBD	0	NA	ENST00000251127		ENSG00000102452	19082		29	0		HGNC	p.C675W		NALCN		SNV			1				ENST00000251127	protein_coding	getma.org/?cm=var&var=hg19,13,101795524,A,C&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Low_complexity_(Seg):seg		C/W		C	neutral	2107/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=599&re=798&var=C675W	deleterious(0.04)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Cys675Trp,ENST00000251127,NM_052867.2;NALCN,non_coding_transcript_exon_variant,,ENST00000467264,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;							MODERATE	2025/5217	C675W	NALCN_HUMAN			Transcript		benign(0.037)	.	ENSP00000251127		CCDS9498.1			1	
DRD5	0	LGGM	GRCh37	4	9784169	9784169	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	24	10	.	.	ENST00000304374.2:c.516C>T	p.Ser172=	p.S172=	ENST00000304374	NM_000798.4	172	tcC/tcT	0	1	1	UPI000004E905	0		ENST00000304374		ENSG00000169676	3026		34			HGNC	p.S172S		DRD5		SNV			1				ENST00000304374	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S		T		912/2375							YES	DRD5,synonymous_variant,p.=,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;							LOW	516/1434		DRD5_HUMAN			Transcript			.	ENSP00000306129		CCDS3405.1			1	
DDX25	0	LGGM	GRCh37	11	125788604	125788604	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	27	10	.	.	ENST00000263576.6:c.1120G>A	p.Val374Met	p.V374M	ENST00000263576	NM_013264.4	374	Gtg/Atg	0	1	1	UPI000018CE78	0	getma.org/pdb.php?prot=DDX25_HUMAN&from=356&to=439&var=V374M	ENST00000263576		ENSG00000109832	18698		37	0.675		HGNC	p.V374M	rs747159948	DDX25	0.000203	SNV				0.000111			ENST00000263576	protein_coding	getma.org/?cm=var&var=hg19,11,125788604,G,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00490,Gene3D:3.40.50.300,Pfam_domain:PF00271,hmmpanther:PTHR24031:SF193,hmmpanther:PTHR24031,PROSITE_profiles:PS51194		V/M		A	neutral	1275/1836	4.89E-05	getma.org/?cm=msa&ty=f&p=DDX25_HUMAN&rb=356&re=439&var=V374M	deleterious(0.02)	B4YF11_HUMAN,B1NSN7_HUMAN			YES	DDX25,missense_variant,p.Val377Met,ENST00000530414,;DDX25,missense_variant,p.Val374Met,ENST00000263576,NM_013264.4;DDX25,missense_variant,p.Val298Met,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,;	0.000384						MODERATE	1120/1452	V374M	DDX25_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000263576	8.27E-05	CCDS44766.1			1	
ABCB5	0	LGGM	GRCh37	7	20766762	20766762	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	27	11	.	.	ENST00000404938.2:c.2725A>T	p.Arg909Ter	p.R909*	ENST00000404938	NM_001163941.1	909	Aga/Tga	0	1	1	UPI000173A253	0	NA	ENST00000404938		ENSG00000004846	46		38	0		HGNC	p.R909X		ABCB5		SNV							ENST00000404938	protein_coding	getma.org/?cm=var&var=hg19,7,20766762,A,T&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Superfamily_domains:SSF90123		R/*		T	NA	3377/5811		NA					YES	ABCB5,stop_gained,p.Arg909Ter,ENST00000404938,NM_001163941.1;ABCB5,stop_gained,p.Arg464Ter,ENST00000258738,NM_178559.5;ABCB5,stop_gained,p.Arg76Ter,ENST00000441315,;							HIGH	2725/3774	R464*	ABCB5_HUMAN			Transcript			.	ENSP00000384881		CCDS55090.1			1	
RBP5	0	LGGM	GRCh37	12	7280921	7280921	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	11	.	.	ENST00000266560.3:c.167G>T	p.Ser56Ile	p.S56I	ENST00000266560	NM_031491.2	56	aGc/aTc	0	1	1	UPI000013D6F8	0	getma.org/pdb.php?prot=RET5_HUMAN&from=6&to=134&var=S56I	ENST00000266560		ENSG00000139194	15847		28	2.87		HGNC	p.Q60H		RBP5		SNV							ENST00000543045	protein_coding	getma.org/?cm=var&var=hg19,12,7280921,C,A&fts=all		Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF74,Superfamily_domains:SSF50814		S/I		A	medium	334/1012		getma.org/?cm=msa&ty=f&p=RET5_HUMAN&rb=6&re=134&var=S56I	deleterious(0)				YES	RBP5,missense_variant,p.Ser56Ile,ENST00000266560,NM_031491.2;RBP5,missense_variant,p.Ser56Ile,ENST00000542370,;CLSTN3,upstream_gene_variant,,ENST00000537408,;CLSTN3,upstream_gene_variant,,ENST00000266546,NM_014718.3;CLSTN3,upstream_gene_variant,,ENST00000541953,;CLSTN3,upstream_gene_variant,,ENST00000539982,;CLSTN3,upstream_gene_variant,,ENST00000534830,;CLSTN3,upstream_gene_variant,,ENST00000545663,;CLSTN3,upstream_gene_variant,,ENST00000535452,;RP11-273B20.1,downstream_gene_variant,,ENST00000544657,;RP11-273B20.1,downstream_gene_variant,,ENST00000538062,;CLSTN3,upstream_gene_variant,,ENST00000541667,;RBP5,missense_variant,p.Gln60His,ENST00000543045,;RBP5,non_coding_transcript_exon_variant,,ENST00000542784,;CLSTN3,upstream_gene_variant,,ENST00000538933,;							MODERATE	167/408	S56I	RET5_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000266560		CCDS8574.1			1	
HSPD1	0	LGGM	GRCh37	2	198353737	198353737	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	65	11	.	.	ENST00000388968.3:c.1204G>A	p.Ala402Thr	p.A402T	ENST00000388968	NM_002156.4	402	Gct/Act	0	1		UPI0000042366	0	getma.org/pdb.php?prot=CH60_HUMAN&from=47&to=550&var=A402T	ENST00000345042		ENSG00000144381	5261		76	4.045		HGNC	p.A402T		HSPD1		SNV			1				ENST00000345042	protein_coding	getma.org/?cm=var&var=hg19,2,198353737,C,T&fts=all		Pfam_domain:PF00118,Gene3D:1.10.560.10,TIGRFAM_domain:TIGR02348,hmmpanther:PTHR11353,HAMAP:MF_00600		A/T		T	high	1321/2299		getma.org/?cm=msa&ty=f&p=CH60_HUMAN&rb=47&re=550&var=A402T	deleterious(0)	Q53SE2_HUMAN,Q53QD5_HUMAN,E7EXB4_HUMAN,C9JL19_HUMAN,C9JCQ4_HUMAN,C9J0S9_HUMAN				HSPD1,missense_variant,p.Ala402Thr,ENST00000388968,NM_002156.4;HSPD1,missense_variant,p.Ala402Thr,ENST00000345042,NM_199440.1;HSPD1,non_coding_transcript_exon_variant,,ENST00000491249,;HSPD1,downstream_gene_variant,,ENST00000482167,;							MODERATE	1204/1722	A402T	CH60_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000340019		CCDS33357.1			1	
KCNMA1	0	LGGM	GRCh37	10	78846254	78846254	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	30	11	.	.	ENST00000404857.1:c.1432A>G	p.Arg478Gly	p.R478G	ENST00000404857	NM_001161353.1	478	Aga/Gga	0	1		UPI00003519E7	0	getma.org/pdb.php?prot=KCMA1_HUMAN&from=439&to=538&var=R478G	ENST00000286628		ENSG00000156113	6284		41	3.115		HGNC	p.R452G		KCNMA1		SNV			1				ENST00000457953	protein_coding	getma.org/?cm=var&var=hg19,10,78846254,T,C&fts=all		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF18,Gene3D:3.40.50.720,Pfam_domain:PF02254,Superfamily_domains:SSF51735		R/G		C	medium	1432/6096		getma.org/?cm=msa&ty=f&p=KCMA1_HUMAN&rb=439&re=538&var=R478G	deleterious(0)	Q5SVK3_HUMAN				KCNMA1,missense_variant,p.Arg339Gly,ENST00000604624,NM_001271518.1,NM_001014797.2;KCNMA1,missense_variant,p.Arg478Gly,ENST00000286627,NM_002247.3,NM_001271519.1;KCNMA1,missense_variant,p.Arg478Gly,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Arg478Gly,ENST00000372443,;KCNMA1,missense_variant,p.Arg478Gly,ENST00000372440,;KCNMA1,missense_variant,p.Arg478Gly,ENST00000404771,;KCNMA1,missense_variant,p.Arg452Gly,ENST00000457953,;KCNMA1,missense_variant,p.Arg413Gly,ENST00000372437,;KCNMA1,missense_variant,p.Arg452Gly,ENST00000372421,;KCNMA1,missense_variant,p.Arg478Gly,ENST00000406533,;KCNMA1,missense_variant,p.Arg478Gly,ENST00000354353,;KCNMA1,missense_variant,p.Arg478Gly,ENST00000404857,NM_001161353.1;KCNMA1,missense_variant,p.Arg415Gly,ENST00000372408,;KCNMA1,missense_variant,p.Arg429Gly,ENST00000372403,;KCNMA1,missense_variant,p.Arg157Gly,ENST00000434208,;KCNMA1,upstream_gene_variant,,ENST00000484507,;							MODERATE	1432/3711	R478G	KCMA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000286628		CCDS60569.1			1	
LINC00923	0	LGGM	GRCh37	15	98417211	98417211	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	23	11	.	.	ENST00000503874.3:c.305T>A	p.Phe102Tyr	p.F102Y	ENST00000503874		102	tTt/tAt	0	1	1	UPI0000DF09DF	0		ENST00000503874		ENSG00000251209	28088		34			HGNC	p.F102Y		LINC00923		SNV							ENST00000503768	protein_coding					F/Y		T		570/1460				H0YM88_HUMAN			YES	LINC00923,missense_variant,p.Phe102Tyr,ENST00000503874,;RP11-753A21.2,upstream_gene_variant,,ENST00000562480,;LINC00923,non_coding_transcript_exon_variant,,ENST00000558179,;LINC00923,missense_variant,p.Phe102Tyr,ENST00000503768,;							MODERATE	305/363					Transcript		benign(0.294)	.	ENSP00000453507					1	
OR4D5	0	LGGM	GRCh37	11	123811259	123811259	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	18	11	.	.	ENST00000307033.2:c.936G>A	p.Leu312=	p.L312=	ENST00000307033	NM_001001965.1	312	ctG/ctA	0	1	1	UPI000003F227	0		ENST00000307033		ENSG00000171014	14852		29			HGNC	p.L312L	rs748530071	OR4D5		SNV							ENST00000307033	protein_coding					L		A		1010/1095							YES	OR4D5,synonymous_variant,p.=,ENST00000307033,NM_001001965.1;OR6T1,downstream_gene_variant,,ENST00000321252,NM_001005187.1;	0.000117						LOW	936/957		OR4D5_HUMAN			Transcript			.	ENSP00000305970	8.24E-06	CCDS31699.1			1	
PIGN	0	LGGM	GRCh37	18	59807664	59807664	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	6	12	.	.	ENST00000357637.5:c.1012C>G	p.Leu338Val	p.L338V	ENST00000357637	NM_176787.4	338	Ctt/Gtt	0	1	1	UPI0000070A47	0	NA	ENST00000357637		ENSG00000197563	8967		18	0.015		HGNC	p.L338V		PIGN		SNV			1				ENST00000400334	protein_coding	getma.org/?cm=var&var=hg19,18,59807664,G,C&fts=all		Gene3D:3.40.720.10,hmmpanther:PTHR12250,Superfamily_domains:SSF53649		L/V		C	neutral	1428/5501		getma.org/?cm=msa&ty=f&p=PIGN_HUMAN&rb=46&re=343&var=L338V	tolerated(0.36)	K7ESH9_HUMAN,K7ERX5_HUMAN,K7EQG0_HUMAN,K7EPN0_HUMAN,K7ENC3_HUMAN,K7EMD7_HUMAN,K7EM45_HUMAN,K7ELE1_HUMAN,K7EL34_HUMAN,K7EK83_HUMAN			YES	PIGN,missense_variant,p.Leu338Val,ENST00000357637,NM_176787.4;PIGN,missense_variant,p.Leu338Val,ENST00000400334,NM_012327.5;PIGN,missense_variant,p.Leu155Val,ENST00000589414,;PIGN,upstream_gene_variant,,ENST00000586566,;PIGN,3_prime_UTR_variant,,ENST00000592803,;							MODERATE	1012/2796	L338V	PIGN_HUMAN			Transcript		benign(0.085)	.	ENSP00000350263		CCDS45879.1			1	
QSOX1	0	LGGM	GRCh37	1	180151374	180151374	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	65	12	.	.	ENST00000367602.3:c.672T>C	p.Asn224=	p.N224=	ENST00000367602		224	aaT/aaC	0	1	1	UPI000004C63C	0		ENST00000367602		ENSG00000116260	9756		77			HGNC	p.N224N		QSOX1		SNV							ENST00000367600	protein_coding			Gene3D:3.40.30.10,hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF6		N		C		746/9311							YES	QSOX1,synonymous_variant,p.=,ENST00000367602,;QSOX1,synonymous_variant,p.=,ENST00000367600,NM_002826.4,NM_001004128.2;QSOX1,3_prime_UTR_variant,,ENST00000392029,;							LOW	672/2244		QSOX1_HUMAN			Transcript			.	ENSP00000356574		CCDS1337.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1871978	1871978	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	12	.	.	ENST00000349830.3:c.2426C>T	p.Thr809Met	p.T809M	ENST00000349830	NM_014629.2	809	aCg/aTg	0	1		UPI0000D89824	0	NA	ENST00000398564		ENSG00000104728	14103		24	2.925		HGNC	p.T809M	rs756284082	ARHGEF10		SNV			1				ENST00000349830	protein_coding	getma.org/?cm=var&var=hg19,8,1871978,C,T&fts=all		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,Superfamily_domains:SSF50729		T/M		T	medium	2501/5480	0.000135	getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=808&re=1007&var=T834M	deleterious(0)					ARHGEF10,missense_variant,p.Thr833Met,ENST00000518288,;ARHGEF10,missense_variant,p.Thr809Met,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Thr834Met,ENST00000398564,;ARHGEF10,missense_variant,p.Thr771Met,ENST00000520359,;ARHGEF10,missense_variant,p.Thr834Met,ENST00000262112,;ARHGEF10,missense_variant,p.Thr482Met,ENST00000522435,;ARHGEF10,downstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000519641,;							MODERATE	2501/4110	T834M	ARHGA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000381571	7.41E-05				1	
HELB	0	LGGM	GRCh37	12	66718812	66718812	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	27	12	.	.	ENST00000247815.4:c.2576A>T	p.Asn859Ile	p.N859I	ENST00000247815	NM_033647.3	859	aAt/aTt	0	1	1	UPI000013CC2D	0	NA	ENST00000247815		ENSG00000127311	17196		39	1.1		HGNC	p.N859I		HELB		SNV							ENST00000545134	protein_coding	getma.org/?cm=var&var=hg19,12,66718812,A,T&fts=all		Pfam_domain:PF13538,Superfamily_domains:SSF52540		N/I		T	low	2635/3420		getma.org/?cm=msa&ty=f&p=HELB_HUMAN&rb=774&re=926&var=N859I	tolerated(0.06)				YES	HELB,missense_variant,p.Asn859Ile,ENST00000247815,NM_033647.3;HELB,missense_variant,p.Asn859Ile,ENST00000545134,;HELB,3_prime_UTR_variant,,ENST00000542394,;HELB,3_prime_UTR_variant,,ENST00000440906,;HELB,non_coding_transcript_exon_variant,,ENST00000545455,;HELB,downstream_gene_variant,,ENST00000536862,;							MODERATE	2576/3264	N859I	HELB_HUMAN			Transcript		benign(0.363)	.	ENSP00000247815		CCDS8976.1			1	
CDC73	0	LGGM	GRCh37	1	193119474	193119474	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	74	12	.	.	ENST00000367435.3:c.869A>G	p.Tyr290Cys	p.Y290C	ENST00000367435	NM_024529.4	290	tAt/tGt	0	1	1	UPI0000021592	0	NA	ENST00000367435		ENSG00000134371	16783		86	2.955		HGNC	p.Y290C		CDC73		SNV			1				ENST00000367435	protein_coding	getma.org/?cm=var&var=hg19,1,193119474,A,G&fts=all		Pfam_domain:PF05179,hmmpanther:PTHR12466,hmmpanther:PTHR12466:SF8		Y/C		G	medium	1053/4969		getma.org/?cm=msa&ty=f&p=CDC73_HUMAN&rb=233&re=525&var=Y290C	deleterious(0)				YES	CDC73,missense_variant,p.Tyr290Cys,ENST00000367435,NM_024529.4;							MODERATE	869/1596	Y290C	CDC73_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000356405		CCDS1382.1			1	
ASPHD2	0	LGGM	GRCh37	22	26838432	26838432	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	16	13	.	.	ENST00000215906.5:c.894A>G	p.Lys298=	p.K298=	ENST00000215906	NM_020437.4	298	aaA/aaG	0	1	1	UPI000037659F	0		ENST00000215906		ENSG00000128203	30437		29			HGNC	p.K298K		ASPHD2		SNV							ENST00000215906	protein_coding			hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF18,Pfam_domain:PF05118,Gene3D:2.60.120.330,Superfamily_domains:SSF51197		K		G		1332/3357				B3KUG5_HUMAN			YES	ASPHD2,synonymous_variant,p.=,ENST00000215906,NM_020437.4;HPS4,downstream_gene_variant,,ENST00000493455,;HPS4,downstream_gene_variant,,ENST00000519774,;							LOW	894/1110		ASPH2_HUMAN			Transcript			.	ENSP00000215906		CCDS13834.2			1	
KLRD1	0	LGGM	GRCh37	12	10462035	10462035	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	26	13	.	.	ENST00000336164.4:c.56T>A	p.Ile19Lys	p.I19K	ENST00000336164	NM_002262.3	19	aTa/aAa	0	1	1	UPI00004565D6	0	NA	ENST00000336164		ENSG00000134539	6378		39	1.905		HGNC	p.I19K		KLRD1		SNV							ENST00000381908	protein_coding	getma.org/?cm=var&var=hg19,12,10462035,T,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF56436,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF15		I/K		A	medium	316/3258		getma.org/?cm=msa&ty=f&p=KLRD1_HUMAN&rb=1&re=77&var=I19K	tolerated(0.2)				YES	KLRD1,missense_variant,p.Ile19Lys,ENST00000381908,;KLRD1,missense_variant,p.Ile19Lys,ENST00000336164,NM_002262.3;KLRD1,missense_variant,p.Ile19Lys,ENST00000381907,NM_001114396.1;KLRD1,missense_variant,p.Ile19Lys,ENST00000543420,;KLRD1,missense_variant,p.Ile19Lys,ENST00000543777,;KLRD1,intron_variant,,ENST00000350274,NM_007334.2;KLRD1,intron_variant,,ENST00000544747,;KLRD1,upstream_gene_variant,,ENST00000539792,;KLRD1,intron_variant,,ENST00000538997,;KLRD1,missense_variant,p.Ile19Lys,ENST00000344825,;KLRD1,missense_variant,p.Ile19Lys,ENST00000539374,;KLRD1,non_coding_transcript_exon_variant,,ENST00000540271,;							MODERATE	56/540	I19K	KLRD1_HUMAN			Transcript		benign(0.032)	.	ENSP00000338130		CCDS8621.1			1	
PIGO	0	LGGM	GRCh37	9	35091711	35091711	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	9	13	.	.	ENST00000378617.3:c.2173G>A	p.Ala725Thr	p.A725T	ENST00000378617	NM_032634.3	725	Gca/Aca	0	1	1	UPI0000048EF6	0	NA	ENST00000378617		ENSG00000165282	23215		22	0		HGNC	p.A725T		PIGO		SNV			1				ENST00000378617	protein_coding	getma.org/?cm=var&var=hg19,9,35091711,C,T&fts=all		hmmpanther:PTHR23071		A/T		T	neutral	2568/4066		getma.org/?cm=msa&ty=f&p=PIGO_HUMAN&rb=719&re=918&var=A725T	tolerated(0.31)				YES	PIGO,missense_variant,p.Ala725Thr,ENST00000378617,NM_032634.3;PIGO,missense_variant,p.Ala725Thr,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,;							MODERATE	2173/3270	A725T	PIGO_HUMAN			Transcript		benign(0.014)	.	ENSP00000367880		CCDS6575.1			1	
TBCK	0	LGGM	GRCh37	4	107165832	107165832	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	19	13	.	.	ENST00000273980.5:c.1021G>T	p.Val341Phe	p.V341F	ENST00000273980		341	Gtc/Ttc	0	1	1	UPI000013EF70	0	NA	ENST00000273980		ENSG00000145348	28261		32	0.345		HGNC	p.V341F		TBCK		SNV							ENST00000432496	protein_coding	getma.org/?cm=var&var=hg19,4,107165832,C,A&fts=all		hmmpanther:PTHR22957:SF22,hmmpanther:PTHR22957		V/F		A	neutral	1469/8101		getma.org/?cm=msa&ty=f&p=TBCK_HUMAN&rb=274&re=468&var=V341F	tolerated(0.05)	D6RDY5_HUMAN,D6RDG2_HUMAN,D6RC61_HUMAN,D6R950_HUMAN			YES	TBCK,missense_variant,p.Val341Phe,ENST00000273980,;TBCK,missense_variant,p.Val341Phe,ENST00000432496,NM_001163436.1;TBCK,missense_variant,p.Val302Phe,ENST00000394706,NM_001163437.1;TBCK,missense_variant,p.Val278Phe,ENST00000361687,NM_033115.3;TBCK,missense_variant,p.Val341Phe,ENST00000394708,NM_001163435.1;TBCK,missense_variant,p.Val80Phe,ENST00000508666,;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;TBCK,downstream_gene_variant,,ENST00000503832,;TBCK,downstream_gene_variant,,ENST00000505574,;							MODERATE	1021/2682	V341F	TBCK_HUMAN			Transcript		benign(0.058)	.	ENSP00000273980		CCDS54788.1			1	
MYOM2	0	LGGM	GRCh37	8	2057270	2057270	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	6	13	.	.	ENST00000262113.4:c.3128C>T	p.Pro1043Leu	p.P1043L	ENST00000262113	NM_003970.2	1043	cCa/cTa	0	1	1	UPI000013D260	0	getma.org/pdb.php?prot=MYOM2_HUMAN&from=900&to=1099&var=P1043L	ENST00000262113		ENSG00000036448	7614		19	2.045		HGNC	p.P468L		MYOM2		SNV							ENST00000523438	protein_coding	getma.org/?cm=var&var=hg19,8,2057270,C,T&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF48		P/L		T	medium	3269/5014		getma.org/?cm=msa&ty=f&p=MYOM2_HUMAN&rb=900&re=1099&var=P1043L	deleterious(0.01)	E7EWH9_HUMAN			YES	MYOM2,missense_variant,p.Pro1043Leu,ENST00000262113,NM_003970.2;MYOM2,missense_variant,p.Pro468Leu,ENST00000523438,;MYOM2,downstream_gene_variant,,ENST00000518203,;MYOM2,downstream_gene_variant,,ENST00000517520,;MYOM2,downstream_gene_variant,,ENST00000519372,;MYOM2,non_coding_transcript_exon_variant,,ENST00000523443,;							MODERATE	3128/4398	P1043L	MYOM2_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000262113		CCDS5957.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	23	13	.	.	ENST00000349496.5:c.95A>T	p.Asp32Val	p.D32V	ENST00000349496	NM_001904.3	32	gAc/gTc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32V	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		36	2.46		HGNC	p.D32V	rs121913396,COSM5691	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266098,A,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/V		T	medium	375/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32V	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Val,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Val,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Val,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Val,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Val,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Val,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Val,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Val,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Val,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	95/2346	D32V	CTNB1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000344456		CCDS2694.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H090515	H090515N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	13	43	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		56			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
TNFRSF11A	0	LGGM	GRCh37	18	60015399	60015399	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	29	14	.	.	ENST00000586569.1:c.76-2A>T		p.X26_splice	ENST00000586569	NM_001278268.1			0	1	1	UPI000003BC8A	0		ENST00000586569		ENSG00000141655	11908		43			HGNC	-		TNFRSF11A		SNV			1				ENST00000269485	protein_coding							T		-/8138				N0GVH0_HUMAN			YES	TNFRSF11A,splice_acceptor_variant,,ENST00000586569,NM_001278268.1,NM_003839.3,NM_001270949.1;TNFRSF11A,splice_acceptor_variant,,ENST00000269485,NM_001270951.1,NM_001270950.1;							HIGH	76/1851		TNR11_HUMAN			Transcript			.	ENSP00000465500		CCDS11980.1			1	
FAM3B	0	LGGM	GRCh37	21	42710402	42710402	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	36	14	.	.	ENST00000357985.2:c.261C>T	p.Tyr87=	p.Y87=	ENST00000357985	NM_058186.3	87	taC/taT	0	1	1	UPI00000015C5	0		ENST00000357985		ENSG00000183844	1253	0.000173	50			HGNC	p.Y39Y	rs376038821,COSM3972775	FAM3B		SNV						0,1	ENST00000398647	protein_coding		T:0	hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF2		Y		T		407/1088					T:0	T:0	YES	FAM3B,synonymous_variant,p.=,ENST00000398652,;FAM3B,synonymous_variant,p.=,ENST00000357985,NM_058186.3;FAM3B,synonymous_variant,p.=,ENST00000398646,;FAM3B,synonymous_variant,p.=,ENST00000398647,NM_206964.1;FAM3B,non_coding_transcript_exon_variant,,ENST00000479810,;FAM3B,non_coding_transcript_exon_variant,,ENST00000518236,;	0.000693	T:0.0002			0,1		LOW	261/708		FAM3B_HUMAN		T:0	Transcript			common_variant	ENSP00000350673	6.59E-05	CCDS13671.1		T:0.001	1	
FGD2	0	LGGM	GRCh37	6	36981750	36981750	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	64	14	.	.	ENST00000274963.8:c.697T>A	p.Ser233Thr	p.S233T	ENST00000274963	NM_173558.3	233	Tcg/Acg	0	1	1	UPI00001A9477	0	getma.org/pdb.php?prot=FGD2_HUMAN&from=106&to=289&var=S233T	ENST00000274963		ENSG00000146192	3664		78	1.5		HGNC	p.S233T		FGD2		SNV							ENST00000274963	protein_coding	getma.org/?cm=var&var=hg19,6,36981750,T,A&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF82,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065		S/T		A	low	868/3046		getma.org/?cm=msa&ty=f&p=FGD2_HUMAN&rb=106&re=289&var=S233T	deleterious(0)				YES	FGD2,missense_variant,p.Ser233Thr,ENST00000274963,NM_173558.3;FGD2,3_prime_UTR_variant,,ENST00000373535,;FGD2,non_coding_transcript_exon_variant,,ENST00000493635,;FGD2,non_coding_transcript_exon_variant,,ENST00000494343,;FGD2,non_coding_transcript_exon_variant,,ENST00000464083,;FGD2,non_coding_transcript_exon_variant,,ENST00000470273,;FGD2,downstream_gene_variant,,ENST00000489356,;FGD2,downstream_gene_variant,,ENST00000487975,;FGD2,downstream_gene_variant,,ENST00000459781,;FGD2,downstream_gene_variant,,ENST00000497659,;							MODERATE	697/1968	S233T	FGD2_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000274963		CCDS4829.1			1	
RGMB	0	LGGM	GRCh37	5	98129245	98129245	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	25	15	.	.	ENST00000308234.7:c.1225T>G	p.Tyr409Asp	p.Y409D	ENST00000308234	NM_001012761.2	409	Tat/Gat	0	1		UPI000004CF9B	0	NA	ENST00000513185		ENSG00000174136	26896		40	2.71		HGNC	p.Y368D		RGMB		SNV							ENST00000513185	protein_coding	getma.org/?cm=var&var=hg19,5,98129245,T,G&fts=all		hmmpanther:PTHR31428,hmmpanther:PTHR31428:SF5,Pfam_domain:PF06534		Y/D		G	medium	1538/2052		getma.org/?cm=msa&ty=f&p=RGMB_HUMAN&rb=224&re=437&var=Y368D	deleterious(0)					RGMB,missense_variant,p.Tyr409Asp,ENST00000308234,NM_001012761.2;RGMB,missense_variant,p.Tyr368Asp,ENST00000513185,;RGMB,intron_variant,,ENST00000508978,;							MODERATE	1102/1314	Y368D	RGMB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000423256					1	
TPO	0	LGGM	GRCh37	2	1491602	1491602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	27	15	.	.	ENST00000345913.4:c.1607A>T	p.Asp536Val	p.D536V	ENST00000345913	NM_000547.5	536	gAc/gTc	0	1		UPI000013D480	0	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=D536V	ENST00000329066		ENSG00000115705	12015		42	3.405		HGNC	p.D536V		TPO		SNV			1				ENST00000345913	protein_coding	getma.org/?cm=var&var=hg19,2,1491602,A,T&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		D/V		T	medium	1690/3138		getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=D536V	deleterious(0)	Q53QT2_HUMAN,C9J511_HUMAN				TPO,missense_variant,p.Asp465Val,ENST00000422464,;TPO,missense_variant,p.Asp536Val,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Asp536Val,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Asp536Val,ENST00000337415,;TPO,missense_variant,p.Asp536Val,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Asp363Val,ENST00000349624,;TPO,missense_variant,p.Asp363Val,ENST00000382198,NM_175722.3;TPO,intron_variant,,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,intron_variant,,ENST00000446278,;TPO,intron_variant,,ENST00000469607,;TPO,intron_variant,,ENST00000497517,;TPO,intron_variant,,ENST00000462973,;							MODERATE	1607/2802	D536V	PERT_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000329869		CCDS1643.1			1	
MYO3B	0	LGGM	GRCh37	2	171356292	171356292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	12	15	.	.	ENST00000408978.4:c.3263A>G	p.Glu1088Gly	p.E1088G	ENST00000408978	NM_138995.4	1088	gAg/gGg	0	1	1	UPI000020907B	0	NA	ENST00000408978		ENSG00000071909	15576		27	2.845		HGNC	p.E1088G		MYO3B		SNV							ENST00000409044	protein_coding	getma.org/?cm=var&var=hg19,2,171356292,A,G&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF52540,SMART_domains:SM00015,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS50096,PROSITE_profiles:PS50096		E/G		G	medium	3406/5529		getma.org/?cm=msa&ty=f&p=MYO3B_HUMAN&rb=1068&re=1128&var=E1088G	tolerated(0.05)				YES	MYO3B,missense_variant,p.Glu1097Gly,ENST00000334231,;MYO3B,missense_variant,p.Glu1088Gly,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Glu1088Gly,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Glu1097Gly,ENST00000484338,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,intron_variant,,ENST00000602629,;MYO3B,missense_variant,p.Glu1088Gly,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;							MODERATE	3263/4026	E1088G	MYO3B_HUMAN			Transcript		benign(0.022)	.	ENSP00000386213		CCDS42773.1			1	
ANKAR	0	LGGM	GRCh37	2	190541694	190541694	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	14	15	.	.	ENST00000520309.1:c.478G>T	p.Gly160Ter	p.G160*	ENST00000520309	NM_144708.3	160	Gga/Tga	0	1		UPI00001D7E11	0	NA	ENST00000313581		ENSG00000151687	26350		29	0		HGNC	p.G160X		ANKAR		SNV							ENST00000520309	protein_coding	getma.org/?cm=var&var=hg19,2,190541694,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62		G/*		T	NA	542/4391		NA		J3KQB7_HUMAN				ANKAR,stop_gained,p.Gly160Ter,ENST00000520309,NM_144708.3;ANKAR,stop_gained,p.Gly160Ter,ENST00000313581,;ANKAR,stop_gained,p.Gly89Ter,ENST00000431575,;ANKAR,stop_gained,p.Gly160Ter,ENST00000438402,;ANKAR,5_prime_UTR_variant,,ENST00000281412,;ANKAR,intron_variant,,ENST00000461516,;ANKAR,stop_gained,p.Gly89Ter,ENST00000433782,;ANKAR,non_coding_transcript_exon_variant,,ENST00000467927,;ANKAR,intron_variant,,ENST00000441800,;							HIGH	478/4305	G160*	ANKAR_HUMAN			Transcript			.	ENSP00000313513		CCDS33351.2			1	
TXNDC9	0	LGGM	GRCh37	2	99936236	99936236	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	37	15	.	.	ENST00000264255.3:c.590A>T	p.Gln197Leu	p.Q197L	ENST00000264255	NM_005783.3	197	cAg/cTg	0	1	1	UPI0000124E09	0	NA	ENST00000264255		ENSG00000115514	24110		52	0.975		HGNC	p.Q197L		TXNDC9		SNV							ENST00000264255	protein_coding	getma.org/?cm=var&var=hg19,2,99936236,T,A&fts=all		hmmpanther:PTHR21148		Q/L		A	low	846/1637		getma.org/?cm=msa&ty=f&p=TXND9_HUMAN&rb=173&re=226&var=Q197L	tolerated(0.31)	B8ZZX4_HUMAN			YES	TXNDC9,missense_variant,p.Gln197Leu,ENST00000264255,NM_005783.3;TXNDC9,downstream_gene_variant,,ENST00000409434,;TXNDC9,downstream_gene_variant,,ENST00000434323,;TXNDC9,downstream_gene_variant,,ENST00000409705,;C2orf15,intron_variant,,ENST00000465095,;TXNDC9,3_prime_UTR_variant,,ENST00000422767,;C2orf15,intron_variant,,ENST00000424491,;TXNDC9,downstream_gene_variant,,ENST00000463385,;TXNDC9,downstream_gene_variant,,ENST00000438680,;							MODERATE	590/681	Q197L	TXND9_HUMAN			Transcript		benign(0.002)	.	ENSP00000264255		CCDS2044.1			1	
ATP4A	0	LGGM	GRCh37	19	36051341	36051341	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	20	15	.	.	ENST00000262623.3:c.711C>T	p.Thr237=	p.T237=	ENST00000262623	NM_000704.2	237	acC/acT	0	1	1	UPI000016A49B	0		ENST00000262623		ENSG00000105675	819		35			HGNC	p.T237T		ATP4A		SNV							ENST00000262623	protein_coding			Prints_domain:PR00119,Superfamily_domains:0049471,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01106,Gene3D:2.70.150.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251		T		A		740/3709							YES	ATP4A,synonymous_variant,p.=,ENST00000262623,NM_000704.2;ATP4A,upstream_gene_variant,,ENST00000592131,;ATP4A,upstream_gene_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;							LOW	711/3108		ATP4A_HUMAN			Transcript			.	ENSP00000262623		CCDS12467.1			1	
ULBP3	0	LGGM	GRCh37	6	150386712	150386712	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	15	16	.	.	ENST00000367339.2:c.450C>A	p.Leu150=	p.L150=	ENST00000367339		150	ctC/ctA	0	1	1	UPI0000071255	0		ENST00000367339		ENSG00000131019	14895		31			HGNC	p.L150L		ULBP3		SNV							ENST00000438272	protein_coding			hmmpanther:PTHR16675:SF159,hmmpanther:PTHR16675,Pfam_domain:PF00129,Gene3D:3.30.500.10,Superfamily_domains:SSF54452		L		T		479/988							YES	ULBP3,synonymous_variant,p.=,ENST00000367339,;ULBP3,synonymous_variant,p.=,ENST00000438272,NM_024518.1;							LOW	450/735		N2DL3_HUMAN			Transcript			.	ENSP00000356308		CCDS5225.1			1	
CXorf30	0	LGGM	GRCh37	X	36385089	36385089	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	5	16	.	.	ENST00000378657.4:c.1370T>A	p.Ile457Lys	p.I457K	ENST00000378657	NM_001098843.4	457	aTa/aAa	0	1	1	UPI0001642840	0	NA	ENST00000378657		ENSG00000205081	27298		21	1.385		HGNC	p.I457K		CXorf30		SNV							ENST00000378657	protein_coding	getma.org/?cm=var&var=hg19,X,36385089,T,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF7		I/K		A	low	2018/2860		getma.org/?cm=msa&ty=f&p=CX030_HUMAN&rb=1&re=631&var=I457K	deleterious(0.01)				YES	CXorf30,missense_variant,p.Ile457Lys,ENST00000378657,NM_001098843.4;CXorf30,missense_variant,p.Ile742Lys,ENST00000378653,;RP11-87M18.2,intron_variant,,ENST00000455438,;CXorf30,non_coding_transcript_exon_variant,,ENST00000446478,;							MODERATE	1370/1902	I457K	CX030_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000367926		CCDS55396.1			1	
BLTP1	0	LGGM	GRCh37	4	123140712	123140712	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	14	16	.	.	ENST00000264501.4:c.2465G>A	p.Arg822His	p.R822H	ENST00000264501		822	cGt/cAt	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953	8.67E-05	30	0.3		HGNC	p.R822H	rs781653997,COSM1733020	KIAA1109	6.06E-05	SNV				0.000102		0,1	ENST00000264501	protein_coding	getma.org/?cm=var&var=hg19,4,123140712,G,A&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		R/H		A	neutral	2838/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=1&re=1180&var=R822H		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Arg822His,ENST00000264501,;KIAA1109,missense_variant,p.Arg822His,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Arg822His,ENST00000455637,;KIAA1109,missense_variant,p.Arg655His,ENST00000424425,;KIAA1109,missense_variant,p.Arg30His,ENST00000449251,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000495260,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000482114,;					0,1		MODERATE	2465/15018	R822H	K1109_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000264501	2.48E-05	CCDS43267.1			1	
ZNF224	0	LGGM	GRCh37	19	44612199	44612199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	31	16	.	.	ENST00000336976.6:c.1886A>T	p.His629Leu	p.H629L	ENST00000336976	NM_013398.2	629	cAt/cTt	0	1	1	UPI00002025B3	0	NA	ENST00000336976		ENSG00000267680	13017		47	0.805		HGNC	p.H629L		ZNF224		SNV							ENST00000336976	protein_coding	getma.org/?cm=var&var=hg19,19,44612199,A,T&fts=all		Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF254,Superfamily_domains:SSF57667		H/L		T	low	2140/2420		getma.org/?cm=msa&ty=f&p=ZN224_HUMAN&rb=619&re=651&var=H629L	deleterious(0)	Q9HCA8_HUMAN,K7ENI7_HUMAN,K7EL24_HUMAN,K7EJ30_HUMAN			YES	ZNF224,missense_variant,p.His629Leu,ENST00000336976,NM_013398.2;ZNF225,upstream_gene_variant,,ENST00000589155,;ZNF224,downstream_gene_variant,,ENST00000591511,;AC084219.4,non_coding_transcript_exon_variant,,ENST00000592946,;AC084219.4,downstream_gene_variant,,ENST00000590369,;ZNF224,non_coding_transcript_exon_variant,,ENST00000591551,;							MODERATE	1886/2124	H629L	ZN224_HUMAN			Transcript		benign(0)	.	ENSP00000337368		CCDS33046.1			1	
ATP6V1C1	0	LGGM	GRCh37	8	104080969	104080969	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	62	16	.	.	ENST00000395862.3:c.1143C>A	p.Phe381Leu	p.F381L	ENST00000395862	NM_001695.4	381	ttC/ttA	0	1	1	UPI0000049C2A	0	NA	ENST00000395862		ENSG00000155097	856		78	0		HGNC	p.F306L		ATP6V1C1		SNV							ENST00000521514	protein_coding	getma.org/?cm=var&var=hg19,8,104080969,C,A&fts=all		hmmpanther:PTHR10137:SF3,hmmpanther:PTHR10137		F/L		A	neutral	1302/5612		getma.org/?cm=msa&ty=f&p=VATC1_HUMAN&rb=341&re=382&var=F381L	tolerated(0.65)	E7EV59_HUMAN			YES	ATP6V1C1,missense_variant,p.Phe381Leu,ENST00000395862,NM_001695.4;ATP6V1C1,missense_variant,p.Phe381Leu,ENST00000518738,;ATP6V1C1,missense_variant,p.Phe306Leu,ENST00000518857,;ATP6V1C1,missense_variant,p.Phe306Leu,ENST00000521514,;ATP6V1C1,non_coding_transcript_exon_variant,,ENST00000518959,;							MODERATE	1143/1149	F381L	VATC1_HUMAN			Transcript		benign(0)	.	ENSP00000379203		CCDS6296.1			1	
SIN3A	0	LGGM	GRCh37	15	75685099	75685099	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	38	17	.	.	ENST00000394947.3:c.2335C>G	p.Leu779Val	p.L779V	ENST00000394947	NM_001145358.1	779	Ctt/Gtt	0	1		UPI000013EAD4	0	NA	ENST00000360439		ENSG00000169375	19353		55	2.675		HGNC	p.L779V		SIN3A		SNV							ENST00000394949	protein_coding	getma.org/?cm=var&var=hg19,15,75685099,G,C&fts=all		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2		L/V		C	medium	2517/5050		getma.org/?cm=msa&ty=f&p=SIN3A_HUMAN&rb=651&re=850&var=L779V	deleterious(0.02)	H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN				SIN3A,missense_variant,p.Leu779Val,ENST00000394947,NM_001145358.1;SIN3A,missense_variant,p.Leu779Val,ENST00000360439,NM_001145357.1;SIN3A,missense_variant,p.Leu779Val,ENST00000394949,NM_015477.2;SIN3A,upstream_gene_variant,,ENST00000570021,;RPL13P4,downstream_gene_variant,,ENST00000484355,;							MODERATE	2335/3822	L779V	SIN3A_HUMAN			Transcript		benign(0.355)	.	ENSP00000353622		CCDS10279.1			1	
KLHL10	0	LGGM	GRCh37	17	40004319	40004319	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	51	17	.	.	ENST00000293303.4:c.1587G>T	p.Leu529Phe	p.L529F	ENST00000293303	NM_152467.3	529	ttG/ttT	0	1	1	UPI000013E0FA	0	getma.org/pdb.php?prot=KLH10_HUMAN&from=516&to=561&var=L529F	ENST00000293303		ENSG00000161594	18829		68	3.615		HGNC	p.L529F		KLHL10		SNV			1				ENST00000293303	protein_coding	getma.org/?cm=var&var=hg19,17,40004319,G,T&fts=all		hmmpanther:PTHR24412:SF165,hmmpanther:PTHR24412,Gene3D:1k3iA02,Pfam_domain:PF01344,SMART_domains:SM00612,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		L/F		T	high	1740/2057		getma.org/?cm=msa&ty=f&p=KLH10_HUMAN&rb=516&re=561&var=L529F	deleterious(0.01)	C9J999_HUMAN,B4DX37_HUMAN			YES	KLHL10,missense_variant,p.Leu529Phe,ENST00000293303,NM_152467.3;RP11-156E6.1,downstream_gene_variant,,ENST00000560400,;							MODERATE	1587/1827	L529F	KLH10_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000293303		CCDS42340.1			1	
ANKRD36	0	LGGM	GRCh37	2	97869994	97869994	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	107	17	.	.	ENST00000420699.2:c.3055A>T	p.Arg1019Trp	p.R1019W	ENST00000420699	NM_001164315.1	1019	Agg/Tgg	0	1	1	UPI0001B23BB4	0	NA	ENST00000420699		ENSG00000135976	24079		124	0.69		HGNC	p.R1019W		ANKRD36		SNV							ENST00000461153	protein_coding	getma.org/?cm=var&var=hg19,2,97869994,A,T&fts=all		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1		R/W		T	neutral	3299/6269		getma.org/?cm=msa&ty=f&p=AN36A_HUMAN&rb=267&re=1470&var=R1019W	deleterious_low_confidence(0)				YES	ANKRD36,missense_variant,p.Arg1019Trp,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Arg1019Trp,ENST00000461153,;							MODERATE	3055/5826	R1019W	AN36A_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000391950		CCDS54379.1			1	
APCDD1	0	LGGM	GRCh37	18	10487618	10487618	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	16	17	.	.	ENST00000355285.5:c.1128G>T	p.Ala376=	p.A376=	ENST00000355285	NM_153000.4	376	gcG/gcT	0	1	1	UPI000000D766	0		ENST00000355285		ENSG00000154856	15718		33			HGNC	p.G173C		APCDD1		SNV			1				ENST00000578882	protein_coding			hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921		A		T		1482/3809							YES	APCDD1,missense_variant,p.Gly173Cys,ENST00000578882,;APCDD1,synonymous_variant,p.=,ENST00000355285,NM_153000.4;APCDD1,3_prime_UTR_variant,,ENST00000423585,;APCDD1,3_prime_UTR_variant,,ENST00000579685,;APCDD1,downstream_gene_variant,,ENST00000582723,;							LOW	1128/1545		APCD1_HUMAN			Transcript			.	ENSP00000347433		CCDS11849.1			1	
PCDHA7	0	LGGM	GRCh37	5	140215841	140215841	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	24	17	.	.	ENST00000525929.1:c.1873G>A	p.Gly625Arg	p.G625R	ENST00000525929	NM_018910.2	625	Ggg/Agg	0	1	1	UPI00001273CF	0	getma.org/pdb.php?prot=PCDA7_HUMAN&from=580&to=670&var=G625R	ENST00000525929		ENSG00000204963	8673		41	3.22		HGNC	p.G625R		PCDHA7		SNV							ENST00000525929	protein_coding	getma.org/?cm=var&var=hg19,5,140215841,G,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268		G/R		A	medium	1873/5221		getma.org/?cm=msa&ty=f&p=PCDA7_HUMAN&rb=580&re=670&var=G625R	deleterious_low_confidence(0)				YES	PCDHA7,missense_variant,p.Gly625Arg,ENST00000525929,NM_018910.2;PCDHA7,missense_variant,p.Gly625Arg,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,;							MODERATE	1873/2814	G625R	PCDA7_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000436426		CCDS54918.1			1	
COL11A1	0	LGGM	GRCh37	1	103487300	103487300	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	30	18	.	.	ENST00000370096.3:c.1271A>G	p.Glu424Gly	p.E424G	ENST00000370096	NM_001854.3	424	gAg/gGg	0	1	1	UPI00002053EF	0	NA	ENST00000370096		ENSG00000060718	2186		48	2.56		HGNC	p.E385G		COL11A1		SNV			1				ENST00000353414	protein_coding	getma.org/?cm=var&var=hg19,1,103487300,T,C&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42		E/G		C	medium	1584/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=229&re=428&var=E424G		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Glu436Gly,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Glu424Gly,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Glu385Gly,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Glu308Gly,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Glu436Gly,ENST00000427239,;							MODERATE	1271/5421	E424G	COBA1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000359114		CCDS778.1			1	
ENPP4	0	LGGM	GRCh37	6	46108849	46108849	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	61	18	.	.	ENST00000321037.4:c.887A>T	p.Lys296Ile	p.K296I	ENST00000321037	NM_014936.4	296	aAa/aTa	0	1	1	UPI0000048E43	0	getma.org/pdb.php?prot=ENPP4_HUMAN&from=28&to=339&var=K296I	ENST00000321037		ENSG00000001561	3359		79	3.445		HGNC	p.K296I		ENPP4		SNV							ENST00000321037	protein_coding	getma.org/?cm=var&var=hg19,6,46108849,A,T&fts=all		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF16,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649		K/I		T	medium	1117/4651		getma.org/?cm=msa&ty=f&p=ENPP4_HUMAN&rb=28&re=339&var=K296I	deleterious(0)				YES	ENPP4,missense_variant,p.Lys296Ile,ENST00000321037,NM_014936.4;							MODERATE	887/1362	K296I	ENPP4_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000318066		CCDS34468.1			1	
HHLA2	0	LGGM	GRCh37	3	108095367	108095367	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	33	18	.	.	ENST00000357759.5:c.1187G>A	p.Arg396His	p.R396H	ENST00000357759	NM_007072.2	396	cGc/cAc	0	1	1	UPI0000073CD9	0	NA	ENST00000357759		ENSG00000114455	4905		51	0		HGNC	p.R379H	rs768241814	HHLA2	6.50E-05	SNV							ENST00000491820	protein_coding	getma.org/?cm=var&var=hg19,3,108095367,G,A&fts=all				R/H		A	neutral	1601/2666	4.62E-05	getma.org/?cm=msa&ty=f&p=HHLA2_HUMAN&rb=337&re=414&var=R396H	tolerated_low_confidence(0.26)	C9JY43_HUMAN,C9JY13_HUMAN,C9JD07_HUMAN,C9J8J7_HUMAN			YES	HHLA2,missense_variant,p.Arg396His,ENST00000357759,NM_007072.2;HHLA2,missense_variant,p.Arg299His,ENST00000482099,;HHLA2,missense_variant,p.Arg396His,ENST00000489514,NM_001282557.1;HHLA2,missense_variant,p.Arg396His,ENST00000467761,NM_001282556.1;HHLA2,missense_variant,p.Arg332His,ENST00000467562,NM_001282559.1;HHLA2,missense_variant,p.Arg379His,ENST00000491820,NM_001282558.1;MYH15,downstream_gene_variant,,ENST00000273353,NM_014981.1;							MODERATE	1187/1245	R396H	HHLA2_HUMAN			Transcript		benign(0)	.	ENSP00000350402	3.31E-05	CCDS46883.1			1	
KRT4	0	LGGM	GRCh37	12	53207583	53207584	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CACCAAAGCCACCAGTGCCGAAACC	novel	by Submitter	H090515	H090515N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	17	19	.	.	ENST00000551956.1:c.260_261insGTTTCGGCACTGGTGGCTTTGGTGG	p.Gly88PhefsTer17	p.G88Ffs*17	ENST00000551956		87	ggt/gGGTTTCGGCACTGGTGGCTTTGGTGgt	0	1		UPI0000D9FD95	0		ENST00000293774		ENSG00000170477	6441		36			HGNC	p.G87fs		KRT4		insertion			1				ENST00000551956	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF85,Low_complexity_(Seg):seg		G/GFRHWWLWWX		CACCAAAGCCACCAGTGCCGAAACC		752-753/2576				Q9UEK9_HUMAN				KRT4,frameshift_variant,p.Gly88PhefsTer17,ENST00000551956,;KRT4,frameshift_variant,p.Gly162PhefsTer17,ENST00000293774,;KRT4,frameshift_variant,p.Gly68PhefsTer17,ENST00000458244,NM_002272.3;KRT4,intron_variant,,ENST00000548097,;KRT4,intron_variant,,ENST00000552668,;KRT4,upstream_gene_variant,,ENST00000549295,;KRT4,upstream_gene_variant,,ENST00000551436,;							HIGH	481-482/1785		K2C4_HUMAN			Transcript	-1		.	ENSP00000293774					1	
ZFYVE1	0	LGGM	GRCh37	14	73490741	73490741	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	45	19	.	.	ENST00000556143.1:c.476A>T	p.Glu159Val	p.E159V	ENST00000556143	NM_021260.2	159	gAa/gTa	0	1	1	UPI0000049888	0	NA	ENST00000556143		ENSG00000165861	13180		64	0.75		HGNC	p.E159V		ZFYVE1		SNV							ENST00000553891	protein_coding	getma.org/?cm=var&var=hg19,14,73490741,T,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF151,Superfamily_domains:SSF52540		E/V		A	neutral	1197/4485		getma.org/?cm=msa&ty=f&p=ZFYV1_HUMAN&rb=131&re=565&var=E159V	tolerated(0.29)				YES	ZFYVE1,missense_variant,p.Glu159Val,ENST00000556143,NM_021260.2,NM_001281735.1;ZFYVE1,missense_variant,p.Glu159Val,ENST00000318876,NM_001281734.1;ZFYVE1,missense_variant,p.Glu159Val,ENST00000553891,;							MODERATE	476/2334	E159V	ZFYV1_HUMAN			Transcript		benign(0.007)	.	ENSP00000450742		CCDS9811.1			1	
AGXT2	0	LGGM	GRCh37	5	35010194	35010194	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	36	19	.	.	ENST00000231420.6:c.1249A>T	p.Lys417Ter	p.K417*	ENST00000231420	NM_031900.3	417	Aag/Tag	0	1	1	UPI0000125709	0	NA	ENST00000231420		ENSG00000113492	14412		55	0		HGNC	p.K342X		AGXT2		SNV							ENST00000510428	protein_coding	getma.org/?cm=var&var=hg19,5,35010194,T,A&fts=all		Superfamily_domains:SSF53383,PIRSF_domain:PIRSF000521,Pfam_domain:PF00202,Gene3D:3.90.1150.10,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF58		K/*		A	NA	1450/2364		NA					YES	AGXT2,stop_gained,p.Lys417Ter,ENST00000231420,NM_031900.3;AGXT2,stop_gained,p.Lys342Ter,ENST00000510428,;AGXT2,non_coding_transcript_exon_variant,,ENST00000512135,;AGXT2,downstream_gene_variant,,ENST00000505349,;							HIGH	1249/1545	K417*	AGT2_HUMAN			Transcript			.	ENSP00000231420		CCDS3908.1			1	
UNC79	0	LGGM	GRCh37	14	94170982	94170982	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	38	19	.	.	ENST00000256339.4:c.7146G>A	p.Met2382Ile	p.M2382I	ENST00000256339	NM_020818.3	2382	atG/atA	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		57	1.795		HGNC	p.M2382I		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94170982,G,A&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		M/I		A	low	7677/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=M2559I	deleterious(0.03)					UNC79,missense_variant,p.Met2581Ile,ENST00000553484,;UNC79,missense_variant,p.Met2520Ile,ENST00000555664,;UNC79,missense_variant,p.Met2382Ile,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Met2559Ile,ENST00000393151,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;							MODERATE	7677/7908	M2559I	UNC79_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000376858					1	
SPATA16	0	LGGM	GRCh37	3	172607409	172607409	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	42	19	.	.	ENST00000351008.3:c.1661G>A	p.Arg554Gln	p.R554Q	ENST00000351008	NM_031955.5	554	cGa/cAa	0	1	1	UPI000013D9BF	0	NA	ENST00000351008		ENSG00000144962	29935		61	0.805		HGNC	p.R554Q	rs549390160,COSM1484852	SPATA16	6.06E-05	SNV			1			0,1	ENST00000351008	protein_coding	getma.org/?cm=var&var=hg19,3,172607409,C,T&fts=all	T:0	Pfam_domain:PF15015		R/Q		T	low	1845/2106	4.50E-05	getma.org/?cm=msa&ty=f&p=SPT16_HUMAN&rb=1&re=566&var=R554Q	deleterious(0.01)		T:0	T:0	YES	SPATA16,missense_variant,p.Arg554Gln,ENST00000351008,NM_031955.5;		T:0.0002			0,1		MODERATE	1661/1710	R554Q	SPT16_HUMAN		T:0	Transcript		benign(0.417)	.	ENSP00000341765	3.29E-05	CCDS3221.1		T:0.001	1	
TACC2	0	LGGM	GRCh37	10	123842670	123842671	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H090515	H090515N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	8	20	.	.	ENST00000369005.1:c.655_656insG	p.Gln219ArgfsTer6	p.Q219Rfs*6	ENST00000369005	NM_206862.2	219	cag/cGag	0	1		UPI0000246F6B	0		ENST00000334433		ENSG00000138162	11523		28			HGNC	p.Q219fs		TACC2		insertion							ENST00000369005	protein_coding			hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		Q/RX		G		701-702/9377								TACC2,frameshift_variant,p.Gln219ArgfsTer6,ENST00000369005,NM_206862.2;TACC2,frameshift_variant,p.Gln219ArgfsTer6,ENST00000334433,;TACC2,frameshift_variant,p.Gln219ArgfsTer6,ENST00000515273,;TACC2,frameshift_variant,p.Gln219ArgfsTer6,ENST00000515603,;TACC2,frameshift_variant,p.Gln219ArgfsTer6,ENST00000453444,;TACC2,intron_variant,,ENST00000513429,NM_206861.1;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;TACC2,downstream_gene_variant,,ENST00000498721,;							HIGH	655-656/8847		TACC2_HUMAN			Transcript			.	ENSP00000334280		CCDS7626.1			1	
PRKCB	0	LGGM	GRCh37	16	24104231	24104231	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	53	20	.	.	ENST00000303531.7:c.649T>A	p.Cys217Ser	p.C217S	ENST00000303531	NM_002738.6	217	Tgc/Agc	0	1		UPI000012DF67	0	getma.org/pdb.php?prot=KPCB_HUMAN&from=173&to=260&var=C217S	ENST00000321728		ENSG00000166501	9395		73	-1.21		HGNC	p.C217S		PRKCB		SNV							ENST00000321728	protein_coding	getma.org/?cm=var&var=hg19,16,24104231,T,A&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF000550,Prints_domain:PR00360,PROSITE_profiles:PS50004,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00239,Superfamily_domains:SSF49562		C/S		A	neutral	824/2689		getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=173&re=260&var=C217S	tolerated(1)	I3L1Z0_HUMAN				PRKCB,missense_variant,p.Cys217Ser,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Cys217Ser,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Cys32Ser,ENST00000498739,;PRKCB,non_coding_transcript_exon_variant,,ENST00000482000,;PRKCB,downstream_gene_variant,,ENST00000486868,;							MODERATE	649/2016	C217S	KPCB_HUMAN			Transcript		benign(0.018)	.	ENSP00000318315		CCDS10618.1			1	
SIN3A	0	LGGM	GRCh37	15	75685054	75685054	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	40	21	.	.	ENST00000394947.3:c.2380A>T	p.Ile794Phe	p.I794F	ENST00000394947	NM_001145358.1	794	Att/Ttt	0	1		UPI000013EAD4	0	NA	ENST00000360439		ENSG00000169375	19353		61	2.545		HGNC	p.I794F		SIN3A		SNV							ENST00000394949	protein_coding	getma.org/?cm=var&var=hg19,15,75685054,T,A&fts=all		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2		I/F		A	medium	2562/5050		getma.org/?cm=msa&ty=f&p=SIN3A_HUMAN&rb=651&re=850&var=I794F	deleterious(0)	H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN				SIN3A,missense_variant,p.Ile794Phe,ENST00000394947,NM_001145358.1;SIN3A,missense_variant,p.Ile794Phe,ENST00000360439,NM_001145357.1;SIN3A,missense_variant,p.Ile794Phe,ENST00000394949,NM_015477.2;SIN3A,upstream_gene_variant,,ENST00000570021,;RPL13P4,downstream_gene_variant,,ENST00000484355,;							MODERATE	2380/3822	I794F	SIN3A_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000353622		CCDS10279.1			1	
SCN9A	0	LGGM	GRCh37	2	167159620	167159620	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	25	21	.	.	ENST00000409672.1:c.881A>T	p.Glu294Val	p.E294V	ENST00000409672	NM_002977.3	294	gAg/gTg	0	1		UPI00015E0A2B	0	getma.org/pdb.php?prot=SCN9A_HUMAN&from=154&to=401&var=E294V	ENST00000303354		ENSG00000169432	10597		46	0.695		HGNC	p.E294V		SCN9A		SNV			1				ENST00000409435	protein_coding	getma.org/?cm=var&var=hg19,2,167159620,T,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28		E/V		A	neutral	1225/9787		getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=154&re=401&var=E294V	tolerated(0.47)	E9PBA5_HUMAN				SCN9A,missense_variant,p.Glu295Val,ENST00000303354,;SCN9A,missense_variant,p.Glu295Val,ENST00000375387,;SCN9A,missense_variant,p.Glu294Val,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Glu294Val,ENST00000409435,;SCN9A,missense_variant,p.Glu159Val,ENST00000452182,;SCN9A,missense_variant,p.Glu159Val,ENST00000454569,;AC010127.3,downstream_gene_variant,,ENST00000447809,;SCN9A,non_coding_transcript_exon_variant,,ENST00000472119,;							MODERATE	884/5970	E294V				Transcript		benign(0.049)	.	ENSP00000304748					1	
MYT1	0	LGGM	GRCh37	20	62850192	62850192	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	47	21	.	.	ENST00000328439.1:c.1847-72T>C		*616*	ENST00000328439	NM_004535.2			0	1	1	UPI000012FBFA	0		ENST00000328439		ENSG00000196132	7622		68			HGNC	p.F619S		MYT1		SNV							ENST00000536311	protein_coding							C		-/5533							YES	MYT1,missense_variant,p.Phe619Ser,ENST00000536311,;MYT1,intron_variant,,ENST00000328439,NM_004535.2;MYT1,intron_variant,,ENST00000360149,;							MODIFIER	-/3366		MYT1_HUMAN			Transcript			.	ENSP00000327465		CCDS13558.1			1	
TGS1	0	LGGM	GRCh37	8	56686204	56686204	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	6	21	.	.	ENST00000260129.5:c.27G>T	p.Val9=	p.V9=	ENST00000260129	NM_024831.6	9	gtG/gtT	0	1	1	UPI0000DBEF24	0		ENST00000260129		ENSG00000137574	17843		27			HGNC	p.V9V		TGS1		SNV							ENST00000523948	protein_coding					V		T		504/3782							YES	TGS1,synonymous_variant,p.=,ENST00000260129,NM_024831.6;TMEM68,upstream_gene_variant,,ENST00000434581,NM_001286657.1;TMEM68,upstream_gene_variant,,ENST00000334667,NM_152417.1;TMEM68,upstream_gene_variant,,ENST00000521229,NM_001286660.1;TMEM68,upstream_gene_variant,,ENST00000519784,;TMEM68,upstream_gene_variant,,ENST00000522090,;TMEM68,upstream_gene_variant,,ENST00000522576,;TMEM68,upstream_gene_variant,,ENST00000523423,;TMEM68,upstream_gene_variant,,ENST00000519780,;TMEM68,upstream_gene_variant,,ENST00000520414,;TMEM68,upstream_gene_variant,,ENST00000523073,;TMEM68,upstream_gene_variant,,ENST00000523180,;TGS1,synonymous_variant,p.=,ENST00000523948,;							LOW	27/2562		TGS1_HUMAN			Transcript			.	ENSP00000260129		CCDS34894.1			1	
PEX5L	0	LGGM	GRCh37	3	179593182	179593182	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	38	22	.	.	ENST00000467460.1:c.589A>T	p.Lys197Ter	p.K197*	ENST00000467460	NM_001256751.1	197	Aaa/Taa	0	1	1	UPI0000049CE2	0	NA	ENST00000467460		ENSG00000114757	30024		60	0		HGNC	p.K5X		PEX5L		SNV							ENST00000491640	protein_coding	getma.org/?cm=var&var=hg19,3,179593182,T,A&fts=all		hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130		K/*		A	NA	920/9082		NA		C9JZE2_HUMAN,C9IZ09_HUMAN			YES	PEX5L,stop_gained,p.Lys197Ter,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,stop_gained,p.Lys162Ter,ENST00000485199,NM_001256752.1;PEX5L,stop_gained,p.Lys195Ter,ENST00000263962,NM_001256750.1;PEX5L,stop_gained,p.Lys154Ter,ENST00000476138,NM_001256754.1;PEX5L,stop_gained,p.Lys89Ter,ENST00000392649,;PEX5L,stop_gained,p.Lys5Ter,ENST00000468741,NM_001256756.1;PEX5L,stop_gained,p.Lys138Ter,ENST00000472994,NM_001256753.1;PEX5L,stop_gained,p.Lys173Ter,ENST00000465751,;PEX5L,stop_gained,p.Lys89Ter,ENST00000464614,NM_001256755.1;PEX5L,stop_gained,p.Lys186Ter,ENST00000469198,;PEX5L,stop_gained,p.Lys5Ter,ENST00000491640,;PEX5L,stop_gained,p.Lys5Ter,ENST00000496721,;PEX5L,downstream_gene_variant,,ENST00000463761,;PEX5L-AS1,non_coding_transcript_exon_variant,,ENST00000466064,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,downstream_gene_variant,,ENST00000487198,;							HIGH	589/1881	K197*	PEX5R_HUMAN			Transcript			.	ENSP00000419975		CCDS3236.1			1	
SPEF2	0	LGGM	GRCh37	5	35793283	35793283	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	24	22	.	.	ENST00000356031.3:c.4577T>G	p.Leu1526Ter	p.L1526*	ENST00000356031	NM_024867.3	1526	tTa/tGa	0	1	1	UPI0001505B9F	0	NA	ENST00000356031		ENSG00000152582	26293		46	0		HGNC	p.L1526X		SPEF2		SNV							ENST00000356031	protein_coding	getma.org/?cm=var&var=hg19,5,35793283,T,G&fts=all		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Superfamily_domains:SSF47473		L/*		G	NA	4731/5681		NA					YES	SPEF2,stop_gained,p.Leu1521Ter,ENST00000440995,;SPEF2,stop_gained,p.Leu1526Ter,ENST00000356031,NM_024867.3;SPEF2,stop_gained,p.Leu323Ter,ENST00000303129,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;							HIGH	4577/5469	L1526*	SPEF2_HUMAN			Transcript			.	ENSP00000348314		CCDS43309.1			1	
ERP29	0	LGGM	GRCh37	12	112460329	112460329	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	32	22	.	.	ENST00000261735.3:c.659A>G	p.Glu220Gly	p.E220G	ENST00000261735	NM_006817.3	220	gAg/gGg	0	1	1	UPI000012A0D9	0	getma.org/pdb.php?prot=ERP29_HUMAN&from=156&to=252&var=E220G	ENST00000261735		ENSG00000089248	13799		54	2.955		HGNC	p.E220G		ERP29		SNV							ENST00000261735	protein_coding	getma.org/?cm=var&var=hg19,12,112460329,A,G&fts=all		Gene3D:1.20.1150.12,Pfam_domain:PF07749,PIRSF_domain:PIRSF027352,hmmpanther:PTHR12211,hmmpanther:PTHR12211:SF0,Superfamily_domains:SSF47933		E/G		G	medium	809/1735		getma.org/?cm=msa&ty=f&p=ERP29_HUMAN&rb=156&re=252&var=E220G	deleterious(0)	F8VY02_HUMAN			YES	ERP29,missense_variant,p.Glu220Gly,ENST00000261735,NM_006817.3;ERP29,missense_variant,p.Glu119Gly,ENST00000546477,;ERP29,3_prime_UTR_variant,,ENST00000455836,NM_001034025.1;NAA25,downstream_gene_variant,,ENST00000261745,NM_024953.3;ERP29,downstream_gene_variant,,ENST00000552052,;							MODERATE	659/786	E220G	ERP29_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261735		CCDS9158.1			1	
TMEM131	0	LGGM	GRCh37	2	98435104	98435104	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	66	22	.	.	ENST00000186436.5:c.1155C>T	p.Tyr385=	p.Y385=	ENST00000186436	NM_015348.1	385	taC/taT	0	1	1	UPI00006C0498	0		ENST00000186436		ENSG00000075568	30366		88			HGNC	p.Y385Y		TMEM131		SNV							ENST00000186436	protein_coding			Gene3D:2.60.40.360,hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1		Y		A		1384/6640				C9J6W0_HUMAN			YES	TMEM131,synonymous_variant,p.=,ENST00000186436,NM_015348.1;TMEM131,intron_variant,,ENST00000425805,;TMEM131,intron_variant,,ENST00000418629,;							LOW	1155/5652		TM131_HUMAN			Transcript			.	ENSP00000186436		CCDS46368.1			1	
FAF1	0	LGGM	GRCh37	1	51050407	51050407	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	26	23	.	.	ENST00000396153.2:c.917A>G	p.Asp306Gly	p.D306G	ENST00000396153	NM_007051.2	306	gAt/gGt	0	1	1	UPI0000032C67	0	NA	ENST00000396153		ENSG00000185104	3578		49	1.445		HGNC	p.D306G		FAF1		SNV							ENST00000371778	protein_coding	getma.org/?cm=var&var=hg19,1,51050407,T,C&fts=all		hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF1		D/G		C	low	1369/4367		getma.org/?cm=msa&ty=f&p=FAF1_HUMAN&rb=201&re=400&var=D306G	deleterious(0.01)				YES	FAF1,missense_variant,p.Asp306Gly,ENST00000396153,NM_007051.2;FAF1,missense_variant,p.Asp306Gly,ENST00000371778,;FAF1,missense_variant,p.Asp64Gly,ENST00000545823,;RNU6-1026P,downstream_gene_variant,,ENST00000384465,;FAF1,non_coding_transcript_exon_variant,,ENST00000472808,;FAF1,missense_variant,p.Asp112Gly,ENST00000494400,;							MODERATE	917/1953	D306G	FAF1_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000379457		CCDS554.1			1	
RFX5	0	LGGM	GRCh37	1	151318681	151318681	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	121	23	.	.	ENST00000290524.4:c.116C>T	p.Ser39Phe	p.S39F	ENST00000290524	NM_000449.3	39	tCc/tTc	0	1	1	UPI0000000E8B	0	getma.org/pdb.php?prot=RFX5_HUMAN&from=1&to=84&var=S39F	ENST00000290524		ENSG00000143390	9986		144	1.7		HGNC	p.S39F	rs771641554,COSM895787	RFX5		SNV			1			0,1	ENST00000430227	protein_coding	getma.org/?cm=var&var=hg19,1,151318681,G,A&fts=all		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF18		S/F		A	low	295/3576	1.50E-05	getma.org/?cm=msa&ty=f&p=RFX5_HUMAN&rb=1&re=84&var=S39F	deleterious(0)	Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN			YES	RFX5,missense_variant,p.Ser39Phe,ENST00000290524,NM_000449.3,NM_001025603.1;RFX5,missense_variant,p.Ser39Phe,ENST00000368870,;RFX5,missense_variant,p.Ser39Phe,ENST00000452671,;RFX5,missense_variant,p.Ser39Phe,ENST00000452513,;RFX5,missense_variant,p.Ser39Phe,ENST00000392746,;RFX5,missense_variant,p.Ser39Phe,ENST00000450506,;RFX5,missense_variant,p.Ser39Phe,ENST00000422595,;RFX5,missense_variant,p.Ser39Phe,ENST00000437327,;RFX5,missense_variant,p.Ser39Phe,ENST00000430227,;RFX5,missense_variant,p.Ser39Phe,ENST00000412774,;RFX5,missense_variant,p.Ser39Phe,ENST00000436271,;RFX5,missense_variant,p.Ser39Phe,ENST00000458484,;RFX5,upstream_gene_variant,,ENST00000436637,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,splice_region_variant,,ENST00000478564,;RFX5,missense_variant,p.Ser39Phe,ENST00000444392,;RFX5,missense_variant,p.Ser39Phe,ENST00000452456,;RFX5,missense_variant,p.Ser39Leu,ENST00000421986,;RFX5,splice_region_variant,,ENST00000494217,;RFX5,splice_region_variant,,ENST00000479681,;RFX5,intron_variant,,ENST00000435314,;RFX5,upstream_gene_variant,,ENST00000475144,;RFX5,upstream_gene_variant,,ENST00000469513,;					0,1		MODERATE	116/1851	S39F	RFX5_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000290524	8.24E-06	CCDS994.1			1	
DMXL2	0	LGGM	GRCh37	15	51755685	51755685	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	39	24	.	.	ENST00000543779.2:c.7817A>T	p.Asp2606Val	p.D2606V	ENST00000543779		2606	gAt/gTt	0	1		UPI000013CCDD	0	NA	ENST00000251076		ENSG00000104093	2938		63	1.245		HGNC	p.D1969V		DMXL2		SNV							ENST00000449909	protein_coding	getma.org/?cm=var&var=hg19,15,51755685,T,A&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11		D/V		A	low	8102/10672		getma.org/?cm=msa&ty=f&p=DMXL2_HUMAN&rb=2505&re=2702&var=D2605V	tolerated(0.31)					DMXL2,missense_variant,p.Asp2605Val,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,missense_variant,p.Asp2606Val,ENST00000543779,;DMXL2,missense_variant,p.Asp1969Val,ENST00000449909,NM_001174117.1;DMXL2,missense_variant,p.Asp731Val,ENST00000560891,;RP11-707P17.1,intron_variant,,ENST00000561007,;RP11-707P17.2,downstream_gene_variant,,ENST00000559977,;RP11-707P17.2,downstream_gene_variant,,ENST00000560727,;RP11-707P17.2,downstream_gene_variant,,ENST00000559173,;DMXL2,upstream_gene_variant,,ENST00000558124,;DMXL2,non_coding_transcript_exon_variant,,ENST00000561079,;DMXL2,intron_variant,,ENST00000559498,;DMXL2,upstream_gene_variant,,ENST00000560211,;DMXL2,upstream_gene_variant,,ENST00000559062,;							MODERATE	7814/9111	D2605V	DMXL2_HUMAN			Transcript		benign(0.06)	.	ENSP00000251076		CCDS10141.1			1	
KIAA0907	0	LGGM	GRCh37	1	155895439	155895439	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	123	24	.	.	ENST00000368321.3:c.877A>G	p.Met293Val	p.M293V	ENST00000368321	NM_014949.2	293	Atg/Gtg	0	1	1	UPI00001A36E0	0	getma.org/pdb.php?prot=K0907_HUMAN&from=1&to=335&var=M293V	ENST00000368321		ENSG00000132680	29145		147	2.845		HGNC	p.M293V	COSM897070	KIAA0907		SNV						1	ENST00000368319	protein_coding	getma.org/?cm=var&var=hg19,1,155895439,T,C&fts=all		hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0,Gene3D:3.30.1370.10,Superfamily_domains:SSF54791		M/V		C	medium	901/2947		getma.org/?cm=msa&ty=f&p=K0907_HUMAN&rb=1&re=335&var=M293V	deleterious(0.01)				YES	KIAA0907,missense_variant,p.Met293Val,ENST00000368320,;KIAA0907,missense_variant,p.Met293Val,ENST00000368321,NM_014949.2;KIAA0907,missense_variant,p.Met293Val,ENST00000368319,;SCARNA4,downstream_gene_variant,,ENST00000516999,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000482337,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,downstream_gene_variant,,ENST00000466713,;KIAA0907,upstream_gene_variant,,ENST00000483237,;					1		MODERATE	877/1845	M293V	K0907_HUMAN			Transcript		benign(0.104)	.	ENSP00000357304		CCDS30885.1			1	
THSD7B	0	LGGM	GRCh37	2	137814272	137814272	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	68	24	.	.	ENST00000272643.3:c.422G>T	p.Arg141Leu	p.R141L	ENST00000272643		141	cGg/cTg	0	1	1	UPI00015E0A18	0	NA	ENST00000272643		ENSG00000144229	29348		92	2.565		HGNC	p.R141L		THSD7B		SNV							ENST00000272643	protein_coding	getma.org/?cm=var&var=hg19,2,137814272,G,T&fts=all		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7		R/L		T	medium	422/5942		getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=102&re=177&var=R141L	deleterious(0)				YES	THSD7B,missense_variant,p.Arg141Leu,ENST00000409968,;THSD7B,missense_variant,p.Arg141Leu,ENST00000272643,;THSD7B,missense_variant,p.Arg110Leu,ENST00000413152,NM_001080427.1;THSD7B,upstream_gene_variant,,ENST00000543459,;THSD7B,downstream_gene_variant,,ENST00000472720,;							MODERATE	422/4830	R141L	THS7B_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000272643					1	
PRUNE2	0	LGGM	GRCh37	9	79321556	79321556	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	40	24	.	.	ENST00000376718.3:c.5634C>A	p.Pro1878=	p.P1878=	ENST00000376718	NM_015225.2	1878	ccC/ccA	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		64			HGNC	p.P1878P	rs139939805	PRUNE2		SNV	A:0.0035						ENST00000376718	protein_coding		A:0.0038	hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		P	A:0	T		5758/12584	0.000153				A:0	A:0	YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;		A:0.0010					LOW	5634/9267		PRUN2_HUMAN		A:0	Transcript			.	ENSP00000365908	8.31E-05	CCDS47982.1		A:0	1	
C10orf129	0	LGGM	GRCh37	10	96985108	96985108	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	31	24	.	.	ENST00000341686.3:c.1262T>C	p.Ile421Thr	p.I421T	ENST00000341686	NM_207321.2	421	aTa/aCa	0	1	1	UPI00017BCE82	0	getma.org/pdb.php?prot=ACSM6_HUMAN&from=87&to=480&var=I421T	ENST00000341686		ENSG00000173124	31665		55	-0.035		HGNC	p.I421T		C10orf129		SNV							ENST00000341686	protein_coding	getma.org/?cm=var&var=hg19,10,96985108,T,C&fts=all		Superfamily_domains:SSF56801,Pfam_domain:PF00501,Gene3D:2.30.38.10,hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF143		I/T		C	neutral	1387/1712		getma.org/?cm=msa&ty=f&p=ACSM6_HUMAN&rb=87&re=480&var=I421T	deleterious(0.04)				YES	C10orf129,missense_variant,p.Ile421Thr,ENST00000341686,NM_207321.2;C10orf129,missense_variant,p.Ile421Thr,ENST00000394005,;C10orf129,3_prime_UTR_variant,,ENST00000430183,;RP11-310E22.4,downstream_gene_variant,,ENST00000451737,;C10orf129,3_prime_UTR_variant,,ENST00000327739,;C10orf129,downstream_gene_variant,,ENST00000404473,;							MODERATE	1262/1443	I421T	ACSM6_HUMAN			Transcript		benign(0.034)	.	ENSP00000340296		CCDS7440.2			1	
MC5R	0	LGGM	GRCh37	18	13825812	13825812	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	30	25	.	.	ENST00000324750.3:c.48C>T	p.Ala16=	p.A16=	ENST00000324750	NM_005913.2	16	gcC/gcT	0	1	1	UPI0000050405	0		ENST00000324750		ENSG00000176136	6933		55			HGNC	p.A16A		MC5R		SNV							ENST00000589410	protein_coding			hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Superfamily_domains:SSF81321,Prints_domain:PR01063		A		T		270/1319				K7ER30_HUMAN			YES	MC5R,synonymous_variant,p.=,ENST00000324750,NM_005913.2;MC5R,synonymous_variant,p.=,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;							LOW	48/978		MC5R_HUMAN			Transcript			.	ENSP00000318077		CCDS11868.1			1	
CIT	0	LGGM	GRCh37	12	120270587	120270587	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	43	27	.	.	ENST00000392521.2:c.741T>A	p.Asn247Lys	p.N247K	ENST00000392521	NM_001206999.1	247	aaT/aaA	0	1		UPI00001908FD	0	getma.org/pdb.php?prot=CTRO_HUMAN&from=97&to=360&var=N247K	ENST00000261833		ENSG00000122966	1985		70	0.075		HGNC	p.N247K		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120270587,A,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF038145,Superfamily_domains:SSF56112		N/K		T	neutral	794/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=97&re=360&var=N247K	deleterious(0.03)					CIT,missense_variant,p.Asn247Lys,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Asn247Lys,ENST00000261833,NM_007174.2;CIT,intron_variant,,ENST00000536325,;							MODERATE	741/6084	N247K	CTRO_HUMAN			Transcript		benign(0.055)	.	ENSP00000261833		CCDS9192.1			1	
KRTAP5-5	0	LGGM	GRCh37	11	1651614	1651643	+	inframe_deletion	In_Frame_Del	DEL	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC	-	novel	by Submitter	H090515	H090515N.bam	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	89	30	.	.	ENST00000399676.2:c.575_604del	p.Tyr192_Pro201del	p.Y192_P201del	ENST00000399676	NM_001001480.2	182	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC/-	0	1	1	UPI0000E592E5	0		ENST00000399676		ENSG00000185940	23601		119			HGNC	p.182_191del	rs576867883,COSM253911	KRTAP5-5		deletion	-:0.3485					0,1	ENST00000399676	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF41,Pfam_domain:PF13885		YCCQSSCCKP/-	-:0.3816	-		582-611/1128							YES	KRTAP5-5,inframe_deletion,p.Tyr192_Pro201del,ENST00000399676,NM_001001480.2;					0,1		MODERATE	544-573/714		KRA55_HUMAN			Transcript	31		.	ENSP00000382584		CCDS41592.1			1	
ADCY2	0	LGGM	GRCh37	5	7698474	7698474	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	50	28	.	.	ENST00000338316.4:c.1096T>A	p.Cys366Ser	p.C366S	ENST00000338316	NM_020546.2	366	Tgt/Agt	0	1	1	UPI000066D9F2	0	getma.org/pdb.php?prot=ADCY2_HUMAN&from=281&to=465&var=C366S	ENST00000338316		ENSG00000078295	233		78	1.335		HGNC	p.C366S		ADCY2		SNV							ENST00000338316	protein_coding	getma.org/?cm=var&var=hg19,5,7698474,T,A&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,SMART_domains:SM00044,Superfamily_domains:SSF55073		C/S		A	low	1185/6575		getma.org/?cm=msa&ty=f&p=ADCY2_HUMAN&rb=281&re=465&var=C366S	deleterious(0)	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN			YES	ADCY2,missense_variant,p.Cys366Ser,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Cys186Ser,ENST00000537121,;ADCY2,downstream_gene_variant,,ENST00000515681,;							MODERATE	1096/3276	C366S	ADCY2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000342952		CCDS3872.2			1	
ELOVL3	0	LGGM	GRCh37	10	103988826	103988826	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	19	28	.	.	ENST00000370005.3:c.630G>T	p.Met210Ile	p.M210I	ENST00000370005	NM_152310.1	210	atG/atT	0	1	1	UPI000004CAF5	0	NA	ENST00000370005		ENSG00000119915	18047		47	3.53		HGNC	p.M210I		ELOVL3		SNV							ENST00000370005	protein_coding	getma.org/?cm=var&var=hg19,10,103988826,G,T&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF01151,hmmpanther:PTHR11157:SF40,hmmpanther:PTHR11157		M/I		T	high	851/1371		getma.org/?cm=msa&ty=f&p=ELOV3_HUMAN&rb=29&re=266&var=M210I	deleterious(0.03)				YES	ELOVL3,missense_variant,p.Met210Ile,ENST00000370005,NM_152310.1;PITX3,downstream_gene_variant,,ENST00000370002,NM_005029.3;PITX3,downstream_gene_variant,,ENST00000539804,;							MODERATE	630/813	M210I	ELOV3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000359022		CCDS7531.1			1	
WFDC11	0	LGGM	GRCh37	20	44277921	44277921	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	89	30	.	.	ENST00000356562.2:c.218G>A	p.Cys73Tyr	p.C73Y	ENST00000356562		73	tGt/tAt	0	1		UPI0000138EA6	0		ENST00000324384		ENSG00000180083	20478		119			HGNC	p.C73Y		WFDC11		SNV							ENST00000324384	protein_coding			hmmpanther:PTHR19441:SF12,hmmpanther:PTHR19441		C/Y		T		413/614			deleterious(0)					WFDC11,missense_variant,p.Cys73Tyr,ENST00000356562,;WFDC11,missense_variant,p.Cys73Tyr,ENST00000324384,NM_147197.2;							MODERATE	218/264		WFD11_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000318753		CCDS13364.1			1	
WSB1	0	LGGM	GRCh37	17	25630652	25630652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	75	31	.	.	ENST00000262394.2:c.469G>T	p.Val157Leu	p.V157L	ENST00000262394	NM_015626.8	157	Gta/Tta	0	1	1	UPI0000031568	0	NA	ENST00000262394		ENSG00000109046	19221		106	1.125		HGNC	p.V157L		WSB1		SNV							ENST00000262394	protein_coding	getma.org/?cm=var&var=hg19,17,25630652,G,T&fts=all		Gene3D:2.130.10.10,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF12,Superfamily_domains:SSF50978		V/L		T	low	785/2844		getma.org/?cm=msa&ty=f&p=WSB1_HUMAN&rb=1&re=159&var=V157L	deleterious(0)				YES	WSB1,missense_variant,p.Val157Leu,ENST00000262394,NM_015626.8;WSB1,missense_variant,p.Val157Leu,ENST00000581185,;WSB1,missense_variant,p.Val126Leu,ENST00000427287,;WSB1,missense_variant,p.Val164Leu,ENST00000581440,;WSB1,intron_variant,,ENST00000579733,;WSB1,intron_variant,,ENST00000348811,NM_134265.2;WSB1,intron_variant,,ENST00000583193,;WSB1,intron_variant,,ENST00000584114,;WSB1,downstream_gene_variant,,ENST00000583742,;WSB1,downstream_gene_variant,,ENST00000578312,;WSB1,downstream_gene_variant,,ENST00000583786,;WSB1,non_coding_transcript_exon_variant,,ENST00000467843,;WSB1,non_coding_transcript_exon_variant,,ENST00000487603,;WSB1,non_coding_transcript_exon_variant,,ENST00000583096,;WSB1,non_coding_transcript_exon_variant,,ENST00000581089,;WSB1,intron_variant,,ENST00000582208,;WSB1,downstream_gene_variant,,ENST00000584354,;							MODERATE	469/1266	V157L	WSB1_HUMAN			Transcript		benign(0.067)	.	ENSP00000262394		CCDS11220.1			1	
PCDHB12	0	LGGM	GRCh37	5	140589343	140589343	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	53	31	.	.	ENST00000239450.2:c.864T>A	p.Ile288=	p.I288=	ENST00000239450	NM_018932.3	288	atT/atA	0	1	1	UPI000000DAFD	0		ENST00000239450		ENSG00000120328	8683		84			HGNC	p.I288I		PCDHB12		SNV							ENST00000239450	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,SMART_domains:SM00112,Superfamily_domains:SSF49313		I		A		1053/3406				B4DDU1_HUMAN			YES	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,intron_variant,,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;							LOW	864/2388		PCDBC_HUMAN			Transcript			.	ENSP00000239450		CCDS4254.1			1	
ESRP1	0	LGGM	GRCh37	8	95653603	95653603	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	174	31	.	.	ENST00000433389.2:c.57C>T	p.Thr19=	p.T19=	ENST00000433389	NM_001034915.2	19	acC/acT	0	1	1	UPI0000210327	0		ENST00000433389		ENSG00000104413	25966		205			HGNC	p.T19T		ESRP1		SNV							ENST00000423620	protein_coding			Gene3D:3.30.420.10,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37		T		T		247/3770				E5RI26_HUMAN,E5RGE9_HUMAN			YES	ESRP1,synonymous_variant,p.=,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,synonymous_variant,p.=,ENST00000358397,;ESRP1,synonymous_variant,p.=,ENST00000423620,NM_001122826.1;ESRP1,synonymous_variant,p.=,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,upstream_gene_variant,,ENST00000519505,;ESRP1,upstream_gene_variant,,ENST00000517610,;ESRP1,upstream_gene_variant,,ENST00000520385,;ESRP1,upstream_gene_variant,,ENST00000522756,;RP11-22C11.2,upstream_gene_variant,,ENST00000562760,;ESRP1,upstream_gene_variant,,ENST00000522920,;							LOW	57/2046		ESRP1_HUMAN			Transcript			.	ENSP00000405738		CCDS47897.1			1	
SRCAP	0	LGGM	GRCh37	16	30731609	30731609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	109	32	.	.	ENST00000262518.4:c.2944G>T	p.Asp982Tyr	p.D982Y	ENST00000262518	NM_006662.2	982	Gac/Tac	0	1	1	UPI000059D368	0	NA	ENST00000262518		ENSG00000080603	16974		141	1.32		HGNC	p.D963Y		SRCAP		SNV			1				ENST00000380361	protein_coding	getma.org/?cm=var&var=hg19,16,30731609,G,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg		D/Y		T	low	3329/10474		getma.org/?cm=msa&ty=f&p=SRCAP_HUMAN&rb=908&re=1010&var=D982Y		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,missense_variant,p.Asp982Tyr,ENST00000262518,NM_006662.2;SRCAP,missense_variant,p.Asp982Tyr,ENST00000395059,;SRCAP,missense_variant,p.Asp982Tyr,ENST00000344771,;SRCAP,missense_variant,p.Asp963Tyr,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000483083,;							MODERATE	2944/9693	D982Y	SRCAP_HUMAN			Transcript		unknown(0)	.	ENSP00000262518		CCDS10689.2			1	
MYB	0	LGGM	GRCh37	6	135515555	135515555	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	18	33	.	.	ENST00000341911.5:c.905T>C	p.Leu302Pro	p.L302P	ENST00000341911	NM_001130173.1	302	cTa/cCa	0	1		UPI000012FAEA	0	getma.org/pdb.php?prot=MYB_HUMAN&from=266&to=313&var=L302P	ENST00000367814		ENSG00000118513	7545		51	1.83		HGNC	p.L302P		MYB		SNV			1				ENST00000529262	protein_coding	getma.org/?cm=var&var=hg19,6,135515555,T,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF454,Pfam_domain:PF07988		L/P		C	low	1091/3302		getma.org/?cm=msa&ty=f&p=MYB_HUMAN&rb=266&re=313&var=L302P	deleterious(0)	Q9UMI7_HUMAN,Q708J0_HUMAN,Q708E9_HUMAN,Q708E3_HUMAN				MYB,missense_variant,p.Leu302Pro,ENST00000341911,NM_001130173.1,NM_001161658.1,NM_001161656.1;MYB,missense_variant,p.Leu302Pro,ENST00000316528,;MYB,missense_variant,p.Leu302Pro,ENST00000442647,NM_001161660.1,NM_001130172.1;MYB,missense_variant,p.Leu302Pro,ENST00000367814,NM_001161659.1,NM_005375.2;MYB,missense_variant,p.Leu302Pro,ENST00000525369,NM_001161657.1;MYB,missense_variant,p.Leu302Pro,ENST00000527615,;MYB,missense_variant,p.Leu302Pro,ENST00000528774,;MYB,missense_variant,p.Leu302Pro,ENST00000534121,;MYB,missense_variant,p.Leu302Pro,ENST00000534044,;MYB,missense_variant,p.Leu278Pro,ENST00000420123,;MYB,missense_variant,p.Leu256Pro,ENST00000430686,;MYB,intron_variant,,ENST00000533624,;MYB-AS1,downstream_gene_variant,,ENST00000455534,;MYB,non_coding_transcript_exon_variant,,ENST00000531845,;MYB,missense_variant,p.Leu302Pro,ENST00000367812,;MYB,missense_variant,p.Leu302Pro,ENST00000533837,;MYB,missense_variant,p.Leu302Pro,ENST00000438901,;MYB,missense_variant,p.Leu302Pro,ENST00000525477,;MYB,missense_variant,p.Leu302Pro,ENST00000463282,;MYB,missense_variant,p.Leu302Pro,ENST00000339290,;MYB,missense_variant,p.Leu302Pro,ENST00000533808,;MYB,missense_variant,p.Leu302Pro,ENST00000525514,;MYB,missense_variant,p.Leu302Pro,ENST00000529586,;MYB,missense_variant,p.Leu302Pro,ENST00000526889,;MYB,missense_variant,p.Leu302Pro,ENST00000526320,;MYB,missense_variant,p.Leu302Pro,ENST00000531519,;MYB,missense_variant,p.Leu302Pro,ENST00000533384,;MYB,missense_variant,p.Leu302Pro,ENST00000531737,;MYB,missense_variant,p.Leu302Pro,ENST00000529262,;MYB,missense_variant,p.Leu302Pro,ENST00000526565,;MYB,missense_variant,p.Leu302Pro,ENST00000528015,;MYB,missense_variant,p.Leu302Pro,ENST00000526187,;MYB,missense_variant,p.Leu302Pro,ENST00000525002,;MYB,missense_variant,p.Leu302Pro,ENST00000528343,;MYB,missense_variant,p.Leu302Pro,ENST00000528140,;MYB,missense_variant,p.Leu278Pro,ENST00000528345,;MYB,missense_variant,p.Leu302Pro,ENST00000525940,;MYB,3_prime_UTR_variant,,ENST00000531634,;MYB,3_prime_UTR_variant,,ENST00000524588,;MYB,upstream_gene_variant,,ENST00000534736,;							MODERATE	905/1923	L302P	MYB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356788		CCDS5174.1			1	
ZNF430	0	LGGM	GRCh37	19	21240202	21240202	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	67	33	.	.	ENST00000261560.5:c.1088A>G	p.His363Arg	p.H363R	ENST00000261560	NM_025189.3	363	cAt/cGt	0	1	1	UPI000020389E	0	getma.org/pdb.php?prot=ZN430_HUMAN&from=359&to=384&var=H363R	ENST00000261560		ENSG00000118620	20808		100	4.065		HGNC	p.H363R	rs757280080	ZNF430		SNV							ENST00000261560	protein_coding	getma.org/?cm=var&var=hg19,19,21240202,A,G&fts=all		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		H/R		G	high	1269/3923	1.55E-05	getma.org/?cm=msa&ty=f&p=ZN430_HUMAN&rb=339&re=404&var=H363R	deleterious(0.01)	Q69YQ2_HUMAN,Q2NKJ9_HUMAN			YES	ZNF430,missense_variant,p.His363Arg,ENST00000261560,NM_025189.3,NM_001172671.1;ZNF430,downstream_gene_variant,,ENST00000599548,;ZNF430,upstream_gene_variant,,ENST00000597922,;AC012627.1,downstream_gene_variant,,ENST00000578233,;							MODERATE	1088/1713	H363R	ZN430_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000261560	8.24E-06	CCDS32978.1			1	
ESRRG	0	LGGM	GRCh37	1	216741353	216741353	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	21	34	.	.	ENST00000366937.1:c.692T>A	p.Leu231Gln	p.L231Q	ENST00000366937	NM_001243518.1	231	cTg/cAg	0	1		UPI00000272E7	0	NA	ENST00000408911		ENSG00000196482	3474		55	1.61		HGNC	p.L203Q		ESRRG		SNV							ENST00000360012	protein_coding	getma.org/?cm=var&var=hg19,1,216741353,A,T&fts=all		hmmpanther:PTHR24084,Gene3D:1.10.565.10,PIRSF_domain:PIRSF500939,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508		L/Q		T	low	831/5216		getma.org/?cm=msa&ty=f&p=ERR3_HUMAN&rb=196&re=246&var=L226Q	tolerated(0.26)	F1D8R6_HUMAN,F1D8R5_HUMAN,C9JU32_HUMAN,C9JNX5_HUMAN,C9J5W9_HUMAN,C9J0E3_HUMAN,B7Z5E9_HUMAN				ESRRG,missense_variant,p.Leu203Gln,ENST00000391890,NM_001243515.1,NM_001243519.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000360012,NM_001243514.1;ESRRG,missense_variant,p.Leu231Gln,ENST00000366937,NM_001243518.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000361525,NM_206594.2,NM_001243505.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000366940,NM_001134285.2;ESRRG,missense_variant,p.Leu203Gln,ENST00000493603,;ESRRG,missense_variant,p.Leu203Gln,ENST00000366938,NM_001243513.1;ESRRG,missense_variant,p.Leu226Gln,ENST00000408911,NM_001438.3;ESRRG,missense_variant,p.Leu203Gln,ENST00000361395,NM_001243510.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000359162,NM_001243506.1,NM_001243511.1,NM_206595.2;ESRRG,missense_variant,p.Leu164Gln,ENST00000463665,NM_001243507.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000487276,NM_001243512.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000493748,NM_001243509.1;ESRRG,missense_variant,p.Leu203Gln,ENST00000475275,;ESRRG,3_prime_UTR_variant,,ENST00000586199,;							MODERATE	677/1377	L226Q	ERR3_HUMAN			Transcript		benign(0.017)	.	ENSP00000386171		CCDS41468.1			1	
SEMG1	0	LGGM	GRCh37	20	43837185	43837185	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	25	34	.	.	ENST00000372781.3:c.1247A>T	p.Asp416Val	p.D416V	ENST00000372781	NM_003007.3	416	gAc/gTc	0	1	1	UPI0000135844	0	NA	ENST00000372781		ENSG00000124233	10742		59	2.36		HGNC	p.D356V		SEMG1		SNV							ENST00000244069	protein_coding	getma.org/?cm=var&var=hg19,20,43837185,A,T&fts=all		Pfam_domain:PF05474,hmmpanther:PTHR10547,hmmpanther:PTHR10547:SF4		D/V		T	medium	1304/1662		getma.org/?cm=msa&ty=f&p=SEMG1_HUMAN&rb=283&re=462&var=D416V	deleterious(0.05)	Q6Y808_HUMAN			YES	SEMG1,missense_variant,p.Asp416Val,ENST00000372781,NM_003007.3;SEMG1,missense_variant,p.Asp356Val,ENST00000244069,;							MODERATE	1247/1389	D416V	SEMG1_HUMAN			Transcript		benign(0.287)	.	ENSP00000361867		CCDS13345.1			1	
TBX5	0	LGGM	GRCh37	12	114832690	114832690	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	52	34	.	.	ENST00000310346.4:c.519A>G	p.Leu173=	p.L173=	ENST00000310346	NM_000192.3	173	ctA/ctG	0	1	1	UPI0000136AA2	0		ENST00000310346		ENSG00000089225	11604		86			HGNC	p.L173L		TBX5		SNV			1				ENST00000310346	protein_coding			PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937		L		C		1186/3825							YES	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,non_coding_transcript_exon_variant,,ENST00000552726,;							LOW	519/1557		TBX5_HUMAN			Transcript			.	ENSP00000309913		CCDS9173.1			1	
MYH8	0	LGGM	GRCh37	17	10321963	10321963	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	100	35	.	.	ENST00000403437.2:c.510T>A	p.Thr170=	p.T170=	ENST00000403437	NM_002472.2	170	acT/acA	0	1	1	UPI000012FB7D	0		ENST00000403437		ENSG00000133020	7578		135			HGNC	p.T170T		MYH8		SNV			1				ENST00000403437	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,SMART_domains:SM00242,Superfamily_domains:SSF52540		T		T		605/6041							YES	MYH8,splice_region_variant,p.=,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							LOW	510/5814		MYH8_HUMAN			Transcript			.	ENSP00000384330		CCDS11153.1			1	
IGKV1D-43	0	LGGM	GRCh37	2	90248972	90248972	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	81	35	.	.	ENST00000468879.1:c.53C>A	p.Pro18Gln	p.P18Q	ENST00000468879		18	cCa/cAa	0	1	1	UPI0000116191	0		ENST00000468879		ENSG00000242580	5758		116			HGNC	p.P18Q		IGKV1D-43		SNV							ENST00000468879	IG_V_gene			Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Gene3D:2.60.40.10		P/Q		A		234/532			tolerated(0.08)				YES	IGKV1D-43,missense_variant,p.Pro18Gln,ENST00000468879,;							MODERATE	53/351					Transcript		benign(0.08)	.	ENSP00000417961					1	
WNK2	0	LGGM	GRCh37	9	95993255	95993255	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	52	36	.	.	ENST00000297954.4:c.940A>T	p.Thr314Ser	p.T314S	ENST00000297954	NM_001282394.1	314	Aca/Tca	0	1	1	UPI0000236D76	0	getma.org/pdb.php?prot=WNK2_HUMAN&from=195&to=453&var=T314S	ENST00000297954		ENSG00000165238	14542		88	-0.91		HGNC	p.T314S		WNK2		SNV							ENST00000395477	protein_coding	getma.org/?cm=var&var=hg19,9,95993255,A,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,SMART_domains:SM00220,Superfamily_domains:SSF56112		T/S		T	neutral	940/7138		getma.org/?cm=msa&ty=f&p=WNK2_HUMAN&rb=195&re=453&var=T314S					YES	WNK2,missense_variant,p.Thr310Ser,ENST00000432730,;WNK2,missense_variant,p.Thr314Ser,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Thr314Ser,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Thr300Ser,ENST00000395475,;WNK2,missense_variant,p.Thr314Ser,ENST00000448039,;WNK2,5_prime_UTR_variant,,ENST00000349097,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,5_prime_UTR_variant,,ENST00000427277,;WNK2,upstream_gene_variant,,ENST00000411624,;							MODERATE	940/6894	T314S	WNK2_HUMAN			Transcript		unknown(0)	.	ENSP00000297954					1	
ANKRD12	0	LGGM	GRCh37	18	9258886	9258886	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	73	38	.	.	ENST00000262126.4:c.5621A>T	p.Tyr1874Phe	p.Y1874F	ENST00000262126	NM_015208.4	1874	tAt/tTt	0	1	1	UPI0000073327	0	NA	ENST00000262126		ENSG00000101745	29135		111	2.465		HGNC	p.Y1851F		ANKRD12		SNV							ENST00000383440	protein_coding	getma.org/?cm=var&var=hg19,18,9258886,A,T&fts=all		hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149		Y/F		T	medium	5861/11288		getma.org/?cm=msa&ty=f&p=ANR12_HUMAN&rb=1771&re=2061&var=Y1874F	deleterious(0)	J3QRX3_HUMAN			YES	ANKRD12,missense_variant,p.Tyr1874Phe,ENST00000262126,NM_015208.4;ANKRD12,missense_variant,p.Tyr1851Phe,ENST00000383440,NM_001083625.2;ANKRD12,missense_variant,p.Tyr1851Phe,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,;							MODERATE	5621/6189	Y1874F	ANR12_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000262126		CCDS11843.1			1	
KRTAP19-7	0	LGGM	GRCh37	21	31933490	31933490	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	78	42	.	.	ENST00000334849.2:c.119G>A	p.Gly40Asp	p.G40D	ENST00000334849	NM_181614.1	40	gGc/gAc	0	1	1	UPI00001A9E4E	0		ENST00000334849		ENSG00000244362	18942		120			HGNC	p.G40D		KRTAP19-7		SNV							ENST00000334849	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF11759		G/D		T		144/440			deleterious_low_confidence(0)				YES	KRTAP19-7,missense_variant,p.Gly40Asp,ENST00000334849,NM_181614.1;							MODERATE	119/192		KR197_HUMAN			Transcript		unknown(0)	.	ENSP00000334696		CCDS13599.1			1	
LOX	0	LGGM	GRCh37	5	121405808	121405808	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	92	43	.	.	ENST00000231004.4:c.1187T>A	p.Val396Glu	p.V396E	ENST00000231004	NM_002317.5	396	gTg/gAg	0	1	1	UPI000012EA87	0	NA	ENST00000231004		ENSG00000113083	6664		135	2.75		HGNC	p.V396E		LOX		SNV							ENST00000231004	protein_coding	getma.org/?cm=var&var=hg19,5,121405808,A,T&fts=all		Pfam_domain:PF01186,Prints_domain:PR00074,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF3		V/E		T	medium	1487/5102		getma.org/?cm=msa&ty=f&p=LYOX_HUMAN&rb=213&re=417&var=V396E	deleterious(0)	D0PNI2_HUMAN,Q71V04_HUMAN,B7ZAJ4_HUMAN,B4DN04_HUMAN,B0AZT2_HUMAN			YES	LOX,missense_variant,p.Val396Glu,ENST00000231004,NM_002317.5,NM_001178102.1;LOX,non_coding_transcript_exon_variant,,ENST00000513319,;LOX,non_coding_transcript_exon_variant,,ENST00000505593,;SRFBP1,intron_variant,,ENST00000504881,;LOX,non_coding_transcript_exon_variant,,ENST00000503759,;LOX,downstream_gene_variant,,ENST00000508067,;							MODERATE	1187/1254	V396E	LYOX_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000231004		CCDS4129.1			1	
MYH10	0	LGGM	GRCh37	17	8411985	8411985	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	41	50	.	.	ENST00000360416.3:c.3101T>C	p.Leu1034Pro	p.L1034P	ENST00000360416	NM_001256012.1	1034	cTc/cCc	0	1		UPI000020093B	0	NA	ENST00000269243		ENSG00000133026	7568		91	2.91		HGNC	p.L1003P		MYH10		SNV							ENST00000269243	protein_coding	getma.org/?cm=var&var=hg19,17,8411985,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Superfamily_domains:SSF90257		L/P		G	medium	3147/7662		getma.org/?cm=msa&ty=f&p=MYH10_HUMAN&rb=808&re=1007&var=L1003P		Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN				MYH10,missense_variant,p.Leu1034Pro,ENST00000360416,NM_001256012.1;MYH10,missense_variant,p.Leu1024Pro,ENST00000396239,;MYH10,missense_variant,p.Leu1019Pro,ENST00000379980,NM_001256095.1;MYH10,missense_variant,p.Leu1003Pro,ENST00000269243,NM_005964.3;RNU7-43P,upstream_gene_variant,,ENST00000516554,;MYH10,non_coding_transcript_exon_variant,,ENST00000465458,;							MODERATE	3008/5931	L1003P	MYH10_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000269243		CCDS11144.1			1	
TSPAN8	0	LGGM	GRCh37	12	71533517	71533517	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090515	H090515N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	100	55	.	.	ENST00000393330.2:c.235A>T	p.Lys79Ter	p.K79*	ENST00000393330		79	Aaa/Taa	0	1		UPI000003EE40	0	NA	ENST00000247829		ENSG00000127324	11855		155	0		HGNC	p.K79X		TSPAN8		SNV							ENST00000247829	protein_coding	getma.org/?cm=var&var=hg19,12,71533517,T,A&fts=all		hmmpanther:PTHR19282:SF33,hmmpanther:PTHR19282,PROSITE_patterns:PS00421,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259		K/*		A	NA	514/1227		NA						TSPAN8,stop_gained,p.Lys79Ter,ENST00000393330,;TSPAN8,stop_gained,p.Lys79Ter,ENST00000247829,NM_004616.2;TSPAN8,stop_gained,p.Lys79Ter,ENST00000546561,;TSPAN8,upstream_gene_variant,,ENST00000552128,;TSPAN8,downstream_gene_variant,,ENST00000552786,;							HIGH	235/714	K79*	TSN8_HUMAN			Transcript			.	ENSP00000247829		CCDS8999.1			1	
TTN	0	LGGM	GRCh37	2	179410829	179410829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090515	H090515N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	31	72	.	.	ENST00000589042.1:c.95134T>A	p.Cys31712Ser	p.C31712S	ENST00000589042	NM_001267550.1	31712	Tgt/Agt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=30068&to=30152&var=C30071S	ENST00000591111		ENSG00000155657	12403		103	0.295		HGNC	p.C29144S		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179410829,A,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265		C/S		T	neutral	90436/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=30068&re=30152&var=C30071S		C9JQJ2_HUMAN				TTN,missense_variant,p.Cys31712Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Cys30071Ser,ENST00000591111,;TTN,missense_variant,p.Cys29144Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Cys22839Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Cys22772Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Cys22647Ser,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,;							MODERATE	90211/103053	C30071S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SLFN11	0	LGGM	GRCh37	17	33679476	33679476	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	65	72	.	.	ENST00000394566.1:c.2605C>T	p.His869Tyr	p.H869Y	ENST00000394566	NM_001104587.1	869	Cat/Tat	0	1		UPI0000140B0E	0	NA	ENST00000308377		ENSG00000172716	26633		137	1.175		HGNC	p.H869Y		SLFN11		SNV							ENST00000394566	protein_coding	getma.org/?cm=var&var=hg19,17,33679476,G,A&fts=all		Superfamily_domains:SSF52540,hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF20		H/Y		A	low	2758/4910		getma.org/?cm=msa&ty=f&p=SLN11_HUMAN&rb=729&re=901&var=H869Y	tolerated(0.2)	K7ES87_HUMAN,K7ER38_HUMAN,K7EKT7_HUMAN,K7EIM3_HUMAN,C9JUT2_HUMAN,C9JDG6_HUMAN,C9J902_HUMAN				SLFN11,missense_variant,p.His869Tyr,ENST00000394566,NM_001104587.1,NM_001104590.1,NM_001104588.1,NM_001104589.1;SLFN11,missense_variant,p.His869Tyr,ENST00000308377,NM_152270.3;SLFN11,3_prime_UTR_variant,,ENST00000592108,;							MODERATE	2605/2706	H869Y	SLN11_HUMAN			Transcript		benign(0.002)	.	ENSP00000312402		CCDS11294.1			1	
PRPH2	0	LGGM	GRCh37	6	42689648	42689648	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090515	H090515N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	26	85	.	.	ENST00000230381.5:c.425G>A	p.Arg142Gln	p.R142Q	ENST00000230381	NM_000322.4	142	cGg/cAg	0	1	1	UPI0000072942	0	NA	ENST00000230381		ENSG00000112619	9942		111	1.455		HGNC	p.R142Q	rs554945964,COSM3394204	PRPH2		SNV			1	9.61E-05		0,1	ENST00000230381	protein_coding	getma.org/?cm=var&var=hg19,6,42689648,C,T&fts=all	T:0.0008	hmmpanther:PTHR19282:SF202,hmmpanther:PTHR19282,Pfam_domain:PF00335,Superfamily_domains:0037997		R/Q		T	low	665/2974		getma.org/?cm=msa&ty=f&p=PRPH2_HUMAN&rb=13&re=290&var=R142Q	deleterious(0)		T:0	T:0	YES	PRPH2,missense_variant,p.Arg142Gln,ENST00000230381,NM_000322.4;		T:0.0002			0,1		MODERATE	425/1041	R142Q	PRPH2_HUMAN		T:0	Transcript		benign(0.339)	.	ENSP00000230381	8.24E-06	CCDS4871.1		T:0	1	
SNX16	0	LGGM	GRCh37	8	82751857	82751857	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090515	H090515N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090515N.bam, H090515T.bam	Illumina HiSeq	41	132	.	.	ENST00000396330.2:c.365C>G	p.Ala122Gly	p.A122G	ENST00000396330	NM_022133.3	122	gCt/gGt	0	1		UPI000004D24C	0	getma.org/pdb.php?prot=SNX16_HUMAN&from=108&to=214&var=A122G	ENST00000345957		ENSG00000104497	14980		173	0.89		HGNC	p.A122G		SNX16		SNV							ENST00000520618	protein_coding	getma.org/?cm=var&var=hg19,8,82751857,G,C&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR22999,hmmpanther:PTHR22999:SF7,SMART_domains:SM00312,Superfamily_domains:SSF64268		A/G		C	low	644/1853		getma.org/?cm=msa&ty=f&p=SNX16_HUMAN&rb=108&re=214&var=A122G	deleterious(0)	E5RJ81_HUMAN,E5RJ65_HUMAN,E5RHF1_HUMAN,E5RGQ6_HUMAN				SNX16,missense_variant,p.Ala122Gly,ENST00000396330,NM_022133.3;SNX16,missense_variant,p.Ala122Gly,ENST00000353788,NM_152837.2;SNX16,missense_variant,p.Ala122Gly,ENST00000345957,NM_152836.2;SNX16,missense_variant,p.Ala122Gly,ENST00000521810,;SNX16,missense_variant,p.Ala93Gly,ENST00000523757,;SNX16,missense_variant,p.Ala122Gly,ENST00000520618,;SNX16,downstream_gene_variant,,ENST00000519817,;SNX16,downstream_gene_variant,,ENST00000519119,;SNX16,downstream_gene_variant,,ENST00000518183,;SNX16,downstream_gene_variant,,ENST00000521773,;							MODERATE	365/1035	A122G	SNX16_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000322652		CCDS6234.1			1	
GGTLC3	0	LGGM	GRCh37	22	20367235	20367235	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	2	2	.	.	ENST00000424787.2:c.331C>A	p.Gln111Lys	p.Q111K	ENST00000424787		111	Cag/Aag	0	1	1	UPI0000D62101	0		ENST00000424787		ENSG00000183038	33426		4			HGNC	p.Q100K		GGTLC3		SNV							ENST00000404912	protein_coding			hmmpanther:PTHR11686:SF1,hmmpanther:PTHR11686,Pfam_domain:PF01019,Superfamily_domains:SSF56235		Q/K		T		331/873			tolerated(0.79)	J3KR28_HUMAN			YES	GGTLC3,missense_variant,p.Gln100Lys,ENST00000404912,;GGTLC3,missense_variant,p.Gln111Lys,ENST00000424787,;							MODERATE	331/711					Transcript		benign(0.001)	.	ENSP00000415635					1	
PIK3R2	0	LGGM	GRCh37	19	18273058	18273058	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	4	2	.	.	ENST00000222254.8:c.948G>A	p.Leu316=	p.L316=	ENST00000222254	NM_005027.3	316	ctG/ctA	0	1	1	UPI000006EF95	0		ENST00000222254		ENSG00000105647	8980		6			HGNC	p.L316L		PIK3R2		SNV			1				ENST00000426902	protein_coding			hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1		L		A		1548/4033				Q96CK7_HUMAN,M0QYU3_HUMAN			YES	PIK3R2,synonymous_variant,p.=,ENST00000222254,NM_005027.3;PIK3R2,synonymous_variant,p.=,ENST00000593731,;PIK3R2,synonymous_variant,p.=,ENST00000426902,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000600533,;PIK3R2,upstream_gene_variant,,ENST00000464016,;PIK3R2,downstream_gene_variant,,ENST00000474310,;							LOW	948/2187		P85B_HUMAN			Transcript			.	ENSP00000222254		CCDS12371.1			1	
NPHS1	0	LGGM	GRCh37	19	36342540	36342540	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	3	2	.	.	ENST00000378910.5:c.93C>T	p.Pro31=	p.P31=	ENST00000378910	NM_004646.3	31	ccC/ccT	0	1	1	UPI000004EF61	0		ENST00000378910		ENSG00000161270	7908		5			HGNC	p.P31P		NPHS1		SNV			1				ENST00000353632	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF31		P		A		93/4276							YES	NPHS1,synonymous_variant,p.=,ENST00000378910,NM_004646.3;NPHS1,synonymous_variant,p.=,ENST00000353632,;KIRREL2,upstream_gene_variant,,ENST00000592409,;KIRREL2,upstream_gene_variant,,ENST00000586102,;NPHS1,downstream_gene_variant,,ENST00000591817,;NPHS1,upstream_gene_variant,,ENST00000592132,;							LOW	93/3726		NPHN_HUMAN			Transcript			.	ENSP00000368190		CCDS32996.1			1	
PLEKHA3	0	LGGM	GRCh37	2	179360303	179360303	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	39	3	.	.	ENST00000234453.5:c.531C>A	p.Ala177=	p.A177=	ENST00000234453	NM_019091.3	177	gcC/gcA	0	1	1	UPI000000DA8A	0		ENST00000234453		ENSG00000116095	14338		42			HGNC	p.A177A		PLEKHA3		SNV							ENST00000234453	protein_coding			hmmpanther:PTHR10219,hmmpanther:PTHR10219:SF15		A		A		933/13880							YES	PLEKHA3,synonymous_variant,p.=,ENST00000234453,NM_019091.3;PLEKHA3,upstream_gene_variant,,ENST00000421187,;PLEKHA3,downstream_gene_variant,,ENST00000461474,;PLEKHA3,3_prime_UTR_variant,,ENST00000453653,;							LOW	531/903		PKHA3_HUMAN			Transcript			.	ENSP00000234453		CCDS33336.1			1	
INVS	0	LGGM	GRCh37	9	103008949	103008949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	29	3	.	.	ENST00000262457.2:c.958C>A	p.Leu320Met	p.L320M	ENST00000262457	NM_014425.3	320	Ctg/Atg	0	1	1	UPI000013D2BB	0	NA	ENST00000262457		ENSG00000119509	17870		32	1.67		HGNC	p.L320M		INVS		SNV			1				ENST00000262456	protein_coding	getma.org/?cm=var&var=hg19,9,103008949,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24178,Superfamily_domains:SSF48403		L/M		A	low	1143/3709		getma.org/?cm=msa&ty=f&p=INVS_HUMAN&rb=310&re=346&var=L320M	deleterious(0.01)				YES	INVS,missense_variant,p.Leu320Met,ENST00000262457,NM_014425.3;INVS,missense_variant,p.Leu224Met,ENST00000541287,;INVS,missense_variant,p.Leu320Met,ENST00000262456,NM_183245.2;							MODERATE	958/3198	L320M	INVS_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000262457		CCDS6746.1			1	
SCUBE1	0	LGGM	GRCh37	22	43603618	43603618	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	8	3	.	.	ENST00000360835.4:c.2736G>T	p.Glu912Asp	p.E912D	ENST00000360835	NM_173050.3	912	gaG/gaT	0	1	1	UPI000020790F	0	NA	ENST00000360835		ENSG00000159307	13441		11	0.695		HGNC	p.E912D		SCUBE1		SNV							ENST00000360835	protein_coding	getma.org/?cm=var&var=hg19,22,43603618,C,A&fts=all		hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF4		E/D		A	neutral	2863/9808		getma.org/?cm=msa&ty=f&p=SCUB1_HUMAN&rb=908&re=988&var=E912D	deleterious(0.01)				YES	SCUBE1,missense_variant,p.Glu912Asp,ENST00000360835,NM_173050.3;							MODERATE	2736/2967	E912D	SCUB1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000354080		CCDS14048.1			1	
RIPPLY1	0	LGGM	GRCh37	X	106146454	106146466	+	frameshift_variant	Frame_Shift_Del	DEL	GAGCTAGGGCCAA	GAGCTAGGGCCAA	-	novel	by Submitter	H090528	H090528N.bam	GAGCTAGGGCCAA	GAGCTAGGGCCAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	5	3	.	.	ENST00000276173.4:c.52_64del	p.Leu18GlnfsTer3	p.L18Qfs*3	ENST00000276173	NM_138382.2	18	TTGGCCCTAGCTCca/ca	0	1	1	UPI00001D7BD4	0		ENST00000276173		ENSG00000147223	25117		8			HGNC	p.18_22del		RIPPLY1		deletion							ENST00000276173	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16770:SF3,hmmpanther:PTHR16770		LALAP/X		-		82-94/1172							YES	RIPPLY1,frameshift_variant,p.Leu18GlnfsTer3,ENST00000276173,NM_138382.2;RIPPLY1,frameshift_variant,p.Leu18GlnfsTer3,ENST00000411805,NM_001171706.1;CLDN2,intron_variant,,ENST00000541806,NM_001171092.1;MORC4,intron_variant,,ENST00000604604,;							HIGH	52-64/456		RIPP1_HUMAN			Transcript			.	ENSP00000276173		CCDS48145.1			1	
SYNE1	0	LGGM	GRCh37	6	152652949	152652949	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	41	3	.	.	ENST00000367255.5:c.12871G>T	p.Ala4291Ser	p.A4291S	ENST00000367255	NM_182961.3	4291	Gct/Tct	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		44	1.79		HGNC	p.A4220S	rs756496542	SYNE1		SNV			1				ENST00000448038	protein_coding	getma.org/?cm=var&var=hg19,6,152652949,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966		A/S		A	low	13473/27748	1.50E-05	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=4120&re=4319&var=A4291S					YES	SYNE1,missense_variant,p.Ala4291Ser,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ala4291Ser,ENST00000265368,;SYNE1,missense_variant,p.Ala4220Ser,ENST00000448038,;SYNE1,missense_variant,p.Ala4220Ser,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ala4156Ser,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000490135,;SYNE1,downstream_gene_variant,,ENST00000471834,;							MODERATE	12871/26394	A4291S	SYNE1_HUMAN			Transcript		benign(0.087)	.	ENSP00000356224	8.24E-06	CCDS5236.2			1	
LRIT2	0	LGGM	GRCh37	10	85981837	85981837	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	31	3	.	.	ENST00000372113.4:c.1492C>A	p.Arg498Ser	p.R498S	ENST00000372113	NM_001017924.2	498	Cgc/Agc	0	1	1	UPI00002374E4	0	NA	ENST00000372113		ENSG00000204033	23443		34	0		HGNC	p.R508S		LRIT2		SNV							ENST00000538192	protein_coding	getma.org/?cm=var&var=hg19,10,85981837,G,T&fts=all				R/S		T	neutral	1498/3081		getma.org/?cm=msa&ty=f&p=LRIT2_HUMAN&rb=452&re=537&var=R498S	tolerated(0.81)				YES	LRIT2,missense_variant,p.Arg498Ser,ENST00000372113,NM_001017924.2;LRIT2,missense_variant,p.Arg508Ser,ENST00000538192,NM_001284223.1;CDHR1,downstream_gene_variant,,ENST00000372117,NM_033100.3;CDHR1,downstream_gene_variant,,ENST00000440770,;CDHR1,downstream_gene_variant,,ENST00000332904,NM_001171971.2;CDHR1,downstream_gene_variant,,ENST00000459673,;							MODERATE	1492/1653	R498S	LRIT2_HUMAN			Transcript		benign(0.016)	.	ENSP00000361185		CCDS31234.1			1	
ZNF518B	0	LGGM	GRCh37	4	10445421	10445421	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	28	3	.	.	ENST00000326756.3:c.2532G>T	p.Arg844=	p.R844=	ENST00000326756	NM_053042.2	844	cgG/cgT	0	1	1	UPI0000160B97	0		ENST00000326756		ENSG00000178163	29365		31			HGNC	p.R844R		ZNF518B		SNV							ENST00000326756	protein_coding			hmmpanther:PTHR10032:SF188,hmmpanther:PTHR10032		R		A		2971/6894				D6RDM9_HUMAN			YES	ZNF518B,synonymous_variant,p.=,ENST00000326756,NM_053042.2;ZNF518B,downstream_gene_variant,,ENST00000507515,;							LOW	2532/3225		Z518B_HUMAN			Transcript			.	ENSP00000317614		CCDS33960.1			1	
C17orf62	0	LGGM	GRCh37	17	80401824	80401824	+	3_prime_UTR_variant	3'UTR	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	26	3	.	.	ENST00000437807.2:c.*56G>T		*19*	ENST00000437807	NM_001193653.1			0	1		UPI000006FDD3	0		ENST00000306645		ENSG00000178927	28672		29			HGNC	p.G59C		C17orf62		SNV							ENST00000336995	protein_coding							A		788/2093				J3QRZ2_HUMAN,J3QLB7_HUMAN,J3QKS6_HUMAN,H0Y2X1_HUMAN				C17orf62,missense_variant,p.Gly59Cys,ENST00000336995,;C17orf62,3_prime_UTR_variant,,ENST00000437807,NM_001193653.1,NM_001193657.1;C17orf62,3_prime_UTR_variant,,ENST00000306645,NM_001033046.3,NM_001100407.2,NM_001193654.1;C17orf62,3_prime_UTR_variant,,ENST00000434650,NM_001100408.2;C17orf62,3_prime_UTR_variant,,ENST00000342572,;C17orf62,3_prime_UTR_variant,,ENST00000577436,;C17orf62,3_prime_UTR_variant,,ENST00000585064,;C17orf62,3_prime_UTR_variant,,ENST00000577732,NM_001193655.1;C17orf62,3_prime_UTR_variant,,ENST00000578919,;C17orf62,intron_variant,,ENST00000583617,;C17orf62,intron_variant,,ENST00000582438,;C17orf62,intron_variant,,ENST00000579751,;HEXDC,downstream_gene_variant,,ENST00000337014,NM_173620.2;HEXDC,downstream_gene_variant,,ENST00000577944,;HEXDC,downstream_gene_variant,,ENST00000327949,;HEXDC,downstream_gene_variant,,ENST00000578130,;C17orf62,downstream_gene_variant,,ENST00000585080,;C17orf62,downstream_gene_variant,,ENST00000577696,;C17orf62,downstream_gene_variant,,ENST00000577471,;C17orf62,downstream_gene_variant,,ENST00000578913,;C17orf62,downstream_gene_variant,,ENST00000577834,;C17orf62,downstream_gene_variant,,ENST00000582545,;C17orf62,non_coding_transcript_exon_variant,,ENST00000581196,;C17orf62,non_coding_transcript_exon_variant,,ENST00000584503,;C17orf62,non_coding_transcript_exon_variant,,ENST00000580560,;C17orf62,downstream_gene_variant,,ENST00000583359,;C17orf62,downstream_gene_variant,,ENST00000584891,;C17orf62,3_prime_UTR_variant,,ENST00000584024,;C17orf62,3_prime_UTR_variant,,ENST00000582725,;C17orf62,non_coding_transcript_exon_variant,,ENST00000585044,;C17orf62,non_coding_transcript_exon_variant,,ENST00000578895,;C17orf62,non_coding_transcript_exon_variant,,ENST00000536759,;HEXDC,downstream_gene_variant,,ENST00000582429,;HEXDC,downstream_gene_variant,,ENST00000585077,;C17orf62,downstream_gene_variant,,ENST00000578941,;HEXDC,downstream_gene_variant,,ENST00000582131,;HEXDC,downstream_gene_variant,,ENST00000578616,;HEXDC,downstream_gene_variant,,ENST00000583354,;C17orf62,downstream_gene_variant,,ENST00000577888,;C17orf62,downstream_gene_variant,,ENST00000582395,;C17orf62,downstream_gene_variant,,ENST00000582608,;C17orf62,downstream_gene_variant,,ENST00000578064,;C17orf62,downstream_gene_variant,,ENST00000577707,;C17orf62,downstream_gene_variant,,ENST00000584408,;C17orf62,downstream_gene_variant,,ENST00000583778,;C17orf62,downstream_gene_variant,,ENST00000579444,;							MODIFIER	-/564		CQ062_HUMAN			Transcript			.	ENSP00000307765		CCDS32776.1			1	
C11orf16	0	LGGM	GRCh37	11	8950988	8950988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	18	3	.	.	ENST00000326053.5:c.260G>T	p.Trp87Leu	p.W87L	ENST00000326053	NM_020643.2	87	tGg/tTg	0	1	1	UPI0000456489	0	NA	ENST00000326053		ENSG00000176029	1169		21	1.95		HGNC	p.W87L		C11orf16		SNV							ENST00000526227	protein_coding	getma.org/?cm=var&var=hg19,11,8950988,C,A&fts=all		Pfam_domain:PF15057,hmmpanther:PTHR14343		W/L		A	medium	367/1908		getma.org/?cm=msa&ty=f&p=CK016_HUMAN&rb=1&re=200&var=W87L	tolerated(0.23)				YES	C11orf16,missense_variant,p.Trp87Leu,ENST00000326053,NM_020643.2;C11orf16,missense_variant,p.Trp87Leu,ENST00000525780,;C11orf16,missense_variant,p.Trp87Leu,ENST00000526227,;C11orf16,intron_variant,,ENST00000528998,;C11orf16,missense_variant,p.Trp87Leu,ENST00000528830,;C11orf16,non_coding_transcript_exon_variant,,ENST00000527607,;							MODERATE	260/1404	W87L	CK016_HUMAN			Transcript		benign(0.13)	.	ENSP00000318999		CCDS7794.1			1	
XKR4	0	LGGM	GRCh37	8	56436404	56436404	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	36	3	.	.	ENST00000327381.6:c.1571C>A	p.Pro524Gln	p.P524Q	ENST00000327381	NM_052898.1	524	cCa/cAa	0	1	1	UPI000016098C	0	NA	ENST00000327381		ENSG00000206579	29394		39	0.55		HGNC	p.P524Q	rs745683937	XKR4		SNV							ENST00000327381	protein_coding	getma.org/?cm=var&var=hg19,8,56436404,C,A&fts=all		hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129		P/Q		A	neutral	1671/19880	1.50E-05	getma.org/?cm=msa&ty=f&p=XKR4_HUMAN&rb=517&re=650&var=P524Q	tolerated(0.06)				YES	XKR4,missense_variant,p.Pro524Gln,ENST00000327381,NM_052898.1;RP11-628E19.2,upstream_gene_variant,,ENST00000522918,;XKR4,upstream_gene_variant,,ENST00000518261,;							MODERATE	1571/1953	P524Q	XKR4_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000328326	8.24E-06	CCDS34893.1			1	
WDR52	0	LGGM	GRCh37	3	113128167	113128167	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	37	3	.	.	ENST00000393845.2:c.676G>T	p.Gly226Trp	p.G226W	ENST00000393845	NM_001164496.1	226	Ggg/Tgg	0	1		UPI000006D67B	0	NA	ENST00000295868		ENSG00000206530	25631		40	3.295		HGNC	p.G226W		WDR52		SNV							ENST00000295868	protein_coding	getma.org/?cm=var&var=hg19,3,113128167,C,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/W		A	medium	839/3377		getma.org/?cm=msa&ty=f&p=WDR52_HUMAN&rb=201&re=400&var=G226W	deleterious(0)	C9K0A4_HUMAN				WDR52,missense_variant,p.Gly226Trp,ENST00000393845,NM_001164496.1;WDR52,missense_variant,p.Gly226Trp,ENST00000295868,NM_018338.3;WDR52-AS1,intron_variant,,ENST00000498480,;WDR52-AS1,intron_variant,,ENST00000473329,;WDR52,splice_region_variant,,ENST00000488854,;WDR52,intron_variant,,ENST00000489938,;							MODERATE	676/2949	G226W	WDR52_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000295868		CCDS2972.1			1	
APBA2	0	LGGM	GRCh37	15	29346575	29346575	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	16	3	.	.	ENST00000558402.1:c.488G>A	p.Gly163Asp	p.G163D	ENST00000558402		163	gGc/gAc	0	1		UPI0000046798	0	NA	ENST00000558259		ENSG00000034053	579		19	1.355		HGNC	p.G163D		APBA2		SNV							ENST00000558358	protein_coding	getma.org/?cm=var&var=hg19,15,29346575,G,A&fts=all		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12		G/D		A	low	695/3635		getma.org/?cm=msa&ty=f&p=APBA2_HUMAN&rb=1&re=200&var=G163D	tolerated_low_confidence(0.17)	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN				APBA2,missense_variant,p.Gly163Asp,ENST00000558402,;APBA2,missense_variant,p.Gly163Asp,ENST00000558259,NM_005503.3;APBA2,missense_variant,p.Gly163Asp,ENST00000411764,NM_001130414.1;APBA2,missense_variant,p.Gly163Asp,ENST00000558330,;APBA2,missense_variant,p.Gly163Asp,ENST00000561069,;APBA2,missense_variant,p.Gly163Asp,ENST00000558358,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;							MODERATE	488/2250	G163D	APBA2_HUMAN			Transcript		benign(0.001)	.	ENSP00000454171		CCDS10022.1			1	
KLHL38	0	LGGM	GRCh37	8	124664193	124664193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	21	3	.	.	ENST00000325995.7:c.974C>A	p.Ala325Asp	p.A325D	ENST00000325995	NM_001081675.2	325	gCc/gAc	0	1	1	UPI00001D82D1	0	getma.org/pdb.php?prot=KLH38_HUMAN&from=238&to=371&var=A325D	ENST00000325995		ENSG00000175946	34435		24	1.735		HGNC	p.A325D		KLHL38		SNV							ENST00000325995	protein_coding	getma.org/?cm=var&var=hg19,8,124664193,G,T&fts=all		Superfamily_domains:0052715,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Gene3D:1zgkA00,hmmpanther:PTHR24412:SF8,hmmpanther:PTHR24412		A/D		T	low	998/1982		getma.org/?cm=msa&ty=f&p=KLH38_HUMAN&rb=238&re=371&var=A325D	deleterious(0.02)				YES	KLHL38,missense_variant,p.Ala325Asp,ENST00000325995,NM_001081675.2;CTD-2552K11.2,intron_variant,,ENST00000524355,;							MODERATE	974/1746	A325D	KLH38_HUMAN			Transcript		benign(0.01)	.	ENSP00000321475		CCDS43766.1			1	
ABHD17A	0	LGGM	GRCh37	19	1881329	1881329	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	12	3	.	.	ENST00000250974.9:c.237C>T	p.Ser79=	p.S79=	ENST00000250974	NM_031213.3	79	agC/agT	0	1		UPI000004CC5E	0		ENST00000292577		ENSG00000129968	28756	0.000176	15			HGNC	p.S79S	rs745309420	ABHD17A		SNV				0.000217			ENST00000590661	protein_coding			hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF52,Superfamily_domains:SSF53474		S		A		671/1757	3.16E-05							ABHD17A,synonymous_variant,p.=,ENST00000292577,NM_001130111.1;ABHD17A,synonymous_variant,p.=,ENST00000250974,NM_031213.3;ABHD17A,synonymous_variant,p.=,ENST00000590661,;ABHD17A,synonymous_variant,p.=,ENST00000591351,;ABHD17A,non_coding_transcript_exon_variant,,ENST00000588598,;ABHD17A,upstream_gene_variant,,ENST00000592757,;							LOW	237/933		AB17A_HUMAN			Transcript			.	ENSP00000292577	5.78E-05	CCDS45902.1			1	
ABHD17A	0	LGGM	GRCh37	19	1881346	1881346	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	14	3	.	.	ENST00000250974.9:c.220G>A	p.Ala74Thr	p.A74T	ENST00000250974	NM_031213.3	74	Gcc/Acc	0	1		UPI000004CC5E	0	NA	ENST00000292577		ENSG00000129968	28756	0.000358	17	2.27		HGNC	p.A74T	rs768544727	ABHD17A	0.000187	SNV				0.000811			ENST00000590661	protein_coding	getma.org/?cm=var&var=hg19,19,1881346,C,T&fts=all		hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF52,Superfamily_domains:SSF53474		A/T		T	medium	654/1757	6.52E-05	getma.org/?cm=msa&ty=f&p=F18A1_HUMAN&rb=1&re=112&var=A74T	tolerated(0.06)					ABHD17A,missense_variant,p.Ala74Thr,ENST00000292577,NM_001130111.1;ABHD17A,missense_variant,p.Ala74Thr,ENST00000250974,NM_031213.3;ABHD17A,missense_variant,p.Ala74Thr,ENST00000590661,;ABHD17A,missense_variant,p.Ala74Thr,ENST00000591351,;ABHD17A,non_coding_transcript_exon_variant,,ENST00000588598,;ABHD17A,upstream_gene_variant,,ENST00000592757,;							MODERATE	220/933	A74T	AB17A_HUMAN			Transcript		benign(0.178)	common_variant	ENSP00000292577	0.00019	CCDS45902.1			1	
EIF2B2	0	LGGM	GRCh37	14	75471599	75471599	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	29	3	.	.	ENST00000266126.5:c.593G>T	p.Cys198Phe	p.C198F	ENST00000266126	NM_014239.3	198	tGc/tTc	0	1	1	UPI0000000CB9	0	getma.org/pdb.php?prot=EI2BB_HUMAN&from=27&to=333&var=C198F	ENST00000266126		ENSG00000119718	3258		32	0.395		HGNC	p.C189F		EIF2B2		SNV			1				ENST00000553401	protein_coding	getma.org/?cm=var&var=hg19,14,75471599,G,T&fts=all		Gene3D:3.40.50.10470,Pfam_domain:PF01008,hmmpanther:PTHR10233,hmmpanther:PTHR10233:SF9,Superfamily_domains:SSF100950		C/F		T	neutral	673/1537		getma.org/?cm=msa&ty=f&p=EI2BB_HUMAN&rb=27&re=333&var=C198F	tolerated(0.57)	Q53XC2_HUMAN			YES	EIF2B2,missense_variant,p.Cys198Phe,ENST00000266126,NM_014239.3;EIF2B2,upstream_gene_variant,,ENST00000554748,;RP11-950C14.3,non_coding_transcript_exon_variant,,ENST00000554430,;EIF2B2,missense_variant,p.Cys189Phe,ENST00000553401,;EIF2B2,missense_variant,p.Cys198Phe,ENST00000556028,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000553539,;EIF2B2,non_coding_transcript_exon_variant,,ENST00000555522,;EIF2B2,upstream_gene_variant,,ENST00000556668,;							MODERATE	593/1056	C198F	EI2BB_HUMAN			Transcript		benign(0.006)	.	ENSP00000266126		CCDS9836.1			1	
CEBPZ	0	LGGM	GRCh37	2	37442049	37442049	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	43	3	.	.	ENST00000234170.5:c.2427G>T	p.Val809=	p.V809=	ENST00000234170	NM_005760.2	809	gtG/gtT	0	1	1	UPI0000072AAB	0		ENST00000234170		ENSG00000115816	24218		46			HGNC	p.V809V		CEBPZ		SNV							ENST00000234170	protein_coding			hmmpanther:PTHR12048		V		A		2573/3463							YES	CEBPZ,synonymous_variant,p.=,ENST00000234170,NM_005760.2;CEBPZ-AS1,downstream_gene_variant,,ENST00000397064,;RP11-423P10.2,downstream_gene_variant,,ENST00000606229,;CEBPZ-AS1,intron_variant,,ENST00000438935,;CEBPZ,upstream_gene_variant,,ENST00000489306,;							LOW	2427/3165		CEBPZ_HUMAN			Transcript			.	ENSP00000234170		CCDS1787.1			1	
TP53	0	LGGM	GRCh37	17	7578406	7578406	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	4	3	.	.	ENST00000269305.4:c.524G>A	p.Arg175His	p.R175H	ENST00000269305	NM_001126112.2	175	cGc/cAc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R175H	ENST00000269305	pathogenic	ENSG00000141510	11998		7	3.345		HGNC	p.R175H	rs28934578,TP53_g.12512G>A,COSM10648,COSM99914,COSM99022,COSM99023,COSM3355994,COSM1640851,COSM99024	TP53		SNV			1			1,0,1,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7578406,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/H		T	medium	714/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R175H	tolerated(0.11)	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			YES	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,;					1,0,1,1,1,1,1,1,1		MODERATE	524/1182	R175H	P53_HUMAN			Transcript		benign(0.308)	.	ENSP00000269305		CCDS11118.1			1	25,105,660,212,642,000,000,000,000,000,000
KTN1	0	LGGM	GRCh37	14	56139732	56139732	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	42	4	.	.	ENST00000395314.3:c.3687+2T>C		p.X1229_splice	ENST00000395314	NM_001079521.1			0	1	1	UPI0000190F88	0		ENST00000395314		ENSG00000126777	6467		46			HGNC	-		KTN1		SNV							ENST00000395309	protein_coding							C		-/4618				Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,splice_donor_variant,,ENST00000416613,;KTN1,splice_donor_variant,,ENST00000395314,NM_001079521.1;KTN1,splice_donor_variant,,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,splice_donor_variant,,ENST00000395311,;KTN1,splice_donor_variant,,ENST00000438792,NM_004986.3;KTN1,splice_donor_variant,,ENST00000395309,;KTN1,splice_donor_variant,,ENST00000395308,;KTN1,splice_donor_variant,,ENST00000554507,;KTN1,splice_donor_variant,,ENST00000555573,;KTN1,splice_donor_variant,,ENST00000554294,;KTN1,downstream_gene_variant,,ENST00000553624,;KTN1,splice_donor_variant,,ENST00000459737,;KTN1,splice_donor_variant,,ENST00000334975,;KTN1,splice_donor_variant,,ENST00000555172,;KTN1,non_coding_transcript_exon_variant,,ENST00000556631,;KTN1,non_coding_transcript_exon_variant,,ENST00000555506,;KTN1,upstream_gene_variant,,ENST00000554831,;							HIGH	3687/4074		KTN1_HUMAN			Transcript			.	ENSP00000378725		CCDS41957.1			1	
ZNF354C	0	LGGM	GRCh37	5	178506808	178506808	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	30	4	.	.	ENST00000315475.6:c.1375C>A	p.Gln459Lys	p.Q459K	ENST00000315475	NM_014594.1	459	Cag/Aag	0	1	1	UPI0000161A6A	0	getma.org/pdb.php?prot=Z354C_HUMAN&from=454&to=479&var=Q459K	ENST00000315475		ENSG00000177932	16736		34	-0.48		HGNC	p.Q459K		ZNF354C		SNV							ENST00000315475	protein_coding	getma.org/?cm=var&var=hg19,5,178506808,C,A&fts=all		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		Q/K		A	neutral	1681/5411		getma.org/?cm=msa&ty=f&p=Z354C_HUMAN&rb=434&re=499&var=Q459K	deleterious(0.03)	Q9NT78_HUMAN			YES	ZNF354C,missense_variant,p.Gln459Lys,ENST00000315475,NM_014594.1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;							MODERATE	1375/1665	Q459K	Z354C_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000324064		CCDS4443.1			1	
C1QTNF9B	0	LGGM	GRCh37	13	24471106	24471106	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	50	4	.	.	ENST00000382137.3:c.20T>A	p.Leu7Gln	p.L7Q	ENST00000382137	NM_001007537.1	7	cTg/cAg	0	1	1	UPI000004F070	0	NA	ENST00000382137		ENSG00000205863	34072		54	2.785		HGNC	p.L7Q		C1QTNF9B		SNV							ENST00000382145	protein_coding	getma.org/?cm=var&var=hg19,13,24471106,A,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24022:SF73,hmmpanther:PTHR24022		L/Q		T	medium	89/1111		getma.org/?cm=msa&ty=f&p=C1T9B_HUMAN&rb=1&re=52&var=L7Q	deleterious(0)				YES	C1QTNF9B,missense_variant,p.Leu7Gln,ENST00000382137,NM_001007537.1;C1QTNF9B,missense_variant,p.Leu7Gln,ENST00000382140,;C1QTNF9B,missense_variant,p.Leu7Gln,ENST00000382145,;C1QTNF9B,missense_variant,p.Leu7Gln,ENST00000382057,;C1QTNF9B-AS1,non_coding_transcript_exon_variant,,ENST00000417034,;C1QTNF9B-AS1,downstream_gene_variant,,ENST00000382133,;C1QTNF9B-AS1,downstream_gene_variant,,ENST00000435039,;C1QTNF9B,non_coding_transcript_exon_variant,,ENST00000556521,;							MODERATE	20/1002	L7Q	C1T9B_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000371572		CCDS31947.1			1	
ABHD17A	0	LGGM	GRCh37	19	1881348	1881348	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	14	4	.	.	ENST00000250974.9:c.218G>A	p.Arg73His	p.R73H	ENST00000250974	NM_031213.3	73	cGt/cAt	0	1		UPI000004CC5E	0	NA	ENST00000292577		ENSG00000129968	28756	0.000359	18	2.41		HGNC	p.R73H	rs748165392	ABHD17A	0.000186	SNV				0.000812			ENST00000590661	protein_coding	getma.org/?cm=var&var=hg19,19,1881348,C,T&fts=all		hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF52,Superfamily_domains:SSF53474		R/H		T	medium	652/1757	6.51E-05	getma.org/?cm=msa&ty=f&p=F18A1_HUMAN&rb=1&re=112&var=R73H	deleterious(0.01)					ABHD17A,missense_variant,p.Arg73His,ENST00000292577,NM_001130111.1;ABHD17A,missense_variant,p.Arg73His,ENST00000250974,NM_031213.3;ABHD17A,missense_variant,p.Arg73His,ENST00000590661,;ABHD17A,missense_variant,p.Arg73His,ENST00000591351,;ABHD17A,non_coding_transcript_exon_variant,,ENST00000588598,;ABHD17A,upstream_gene_variant,,ENST00000592757,;							MODERATE	218/933	R73H	AB17A_HUMAN			Transcript		benign(0.021)	common_variant	ENSP00000292577	0.000199	CCDS45902.1			1	
TMED1	0	LGGM	GRCh37	19	10943884	10943884	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	8	4	.	.	ENST00000214869.2:c.471C>T	p.Ser157=	p.S157=	ENST00000214869	NM_006858.3	157	tcC/tcT	0	1	1	UPI00000722CE	0		ENST00000214869		ENSG00000099203	17291		12			HGNC	p.P96L		TMED1		SNV							ENST00000591695	protein_coding			hmmpanther:PTHR22811:SF40,hmmpanther:PTHR22811,Pfam_domain:PF01105		S		A		570/1340				K7EIN4_HUMAN			YES	TMED1,missense_variant,p.Pro96Leu,ENST00000591695,;TMED1,missense_variant,p.His65Tyr,ENST00000586835,;DNM2,missense_variant,p.Met86Ile,ENST00000591818,;TMED1,synonymous_variant,p.=,ENST00000214869,NM_006858.3;TMED1,synonymous_variant,p.=,ENST00000589638,;TMED1,synonymous_variant,p.=,ENST00000588289,;DNM2,downstream_gene_variant,,ENST00000314646,;DNM2,downstream_gene_variant,,ENST00000359692,NM_004945.3;DNM2,downstream_gene_variant,,ENST00000389253,NM_001005361.2;DNM2,downstream_gene_variant,,ENST00000355667,NM_001005360.2,NM_001190716.1;DNM2,downstream_gene_variant,,ENST00000408974,NM_001005362.2;DNM2,downstream_gene_variant,,ENST00000585892,;C19orf38,upstream_gene_variant,,ENST00000592854,;DNM2,downstream_gene_variant,,ENST00000589106,;TMED1,3_prime_UTR_variant,,ENST00000591157,;TMED1,3_prime_UTR_variant,,ENST00000588259,;DNM2,non_coding_transcript_exon_variant,,ENST00000593203,;DNM2,downstream_gene_variant,,ENST00000590806,;							LOW	471/684		TMED1_HUMAN			Transcript			.	ENSP00000214869		CCDS12249.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123476110	123476110	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	80	4	.	.	ENST00000529750.1:c.818C>T	p.Ala273Val	p.A273V	ENST00000529750	NM_020716.1	273	gCc/gTc	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		84	0.895		HGNC	p.A280V		GRAMD1B		SNV							ENST00000456860	protein_coding	getma.org/?cm=var&var=hg19,11,123476110,C,T&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		A/V		T	low	1145/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=164&re=363&var=A273V	tolerated(0.21)				YES	GRAMD1B,missense_variant,p.Ala273Val,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Ala233Val,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Ala280Val,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Ala273Val,ENST00000322282,;GRAMD1B,missense_variant,p.Ala269Val,ENST00000534764,;GRAMD1B,upstream_gene_variant,,ENST00000450171,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;							MODERATE	818/2217	A273V	GRM1B_HUMAN			Transcript		benign(0.02)	.	ENSP00000436500		CCDS53720.1			1	
FAM185A	0	LGGM	GRCh37	7	102417743	102417743	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	80	4	.	.	ENST00000413034.2:c.879C>A	p.Ala293=	p.A293=	ENST00000413034	NM_001145268.1	293	gcC/gcA	0	1	1	UPI0001AE70BB	0		ENST00000413034		ENSG00000222011	22412		84			HGNC	p.A176A		FAM185A		SNV							ENST00000409231	protein_coding			Pfam_domain:PF13345		A		A		879/1179				F8WFC0_HUMAN,C9JFL0_HUMAN			YES	FAM185A,synonymous_variant,p.=,ENST00000409231,NM_001145269.1;FAM185A,synonymous_variant,p.=,ENST00000413034,NM_001145268.1;FAM185A,non_coding_transcript_exon_variant,,ENST00000481697,;FAM185A,non_coding_transcript_exon_variant,,ENST00000487807,;FAM185A,3_prime_UTR_variant,,ENST00000442873,;FAM185A,3_prime_UTR_variant,,ENST00000420217,;							LOW	879/1179		F185A_HUMAN			Transcript			.	ENSP00000395340		CCDS47676.1			1	
KRTAP26-1	0	LGGM	GRCh37	21	31692334	31692334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	15	4	.	.	ENST00000360542.3:c.20G>T	p.Cys7Phe	p.C7F	ENST00000360542	NM_203405.1	7	tGc/tTc	0	1	1	UPI00001CE052	0	NA	ENST00000360542		ENSG00000197683	33760		19	2.085		HGNC	p.C7F		KRTAP26-1		SNV							ENST00000360542	protein_coding	getma.org/?cm=var&var=hg19,21,31692334,C,A&fts=all		Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF11		C/F		A	medium	274/1156		getma.org/?cm=msa&ty=f&p=KR261_HUMAN&rb=1&re=210&var=C7F	deleterious(0)				YES	KRTAP26-1,missense_variant,p.Cys7Phe,ENST00000360542,NM_203405.1;							MODERATE	20/633	C7F	KR261_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000353742		CCDS13588.1			1	
IRAK2	0	LGGM	GRCh37	3	10280442	10280442	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	43	4	.	.	ENST00000256458.4:c.1484C>T	p.Ser495Phe	p.S495F	ENST00000256458	NM_001570.3	495	tCt/tTt	0	1	1	UPI000020AB17	0	NA	ENST00000256458		ENSG00000134070	6113		47	1.59		HGNC	p.S495F		IRAK2		SNV							ENST00000256458	protein_coding	getma.org/?cm=var&var=hg19,3,10280442,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF2		S/F		T	low	1574/3483		getma.org/?cm=msa&ty=f&p=IRAK2_HUMAN&rb=486&re=625&var=S495F	tolerated(0.7)				YES	IRAK2,missense_variant,p.Ser495Phe,ENST00000256458,NM_001570.3;							MODERATE	1484/1878	S495F	IRAK2_HUMAN			Transcript		benign(0.003)	.	ENSP00000256458		CCDS33697.1			1	
ZMYND15	0	LGGM	GRCh37	17	4645783	4645783	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	12	4	.	.	ENST00000573751.2:c.1141G>T	p.Ala381Ser	p.A381S	ENST00000573751		381	Gca/Tca	0	1		UPI000153D80D	0	NA	ENST00000433935		ENSG00000141497	20997		16	0.345		HGNC	p.A381S		ZMYND15		SNV			1				ENST00000592813	protein_coding	getma.org/?cm=var&var=hg19,17,4645783,G,T&fts=all		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF130		A/S		T	neutral	1198/2411		getma.org/?cm=msa&ty=f&p=ZMY15_HUMAN&rb=340&re=401&var=A381S	tolerated(0.42)					ZMYND15,missense_variant,p.Ala381Ser,ENST00000433935,NM_001136046.2,NM_001267822.1;ZMYND15,missense_variant,p.Ala381Ser,ENST00000573751,;ZMYND15,missense_variant,p.Ala381Ser,ENST00000592813,NM_032265.2;ZMYND15,missense_variant,p.Ala381Ser,ENST00000269289,;CXCL16,upstream_gene_variant,,ENST00000293778,NM_022059.2;CXCL16,upstream_gene_variant,,ENST00000574412,NM_001100812.1;CXCL16,upstream_gene_variant,,ENST00000573123,;ZMYND15,non_coding_transcript_exon_variant,,ENST00000574829,;ZMYND15,upstream_gene_variant,,ENST00000571782,;CXCL16,upstream_gene_variant,,ENST00000575168,;							MODERATE	1141/2229	A381S	ZMY15_HUMAN			Transcript		benign(0.031)	.	ENSP00000391742		CCDS45584.1			1	
C2CD5	0	LGGM	GRCh37	12	22637629	22637629	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	31	5	.	.	ENST00000333957.4:c.1550+2T>G		p.X517_splice	ENST00000333957	NM_014802.1			0	1	1	UPI000000D850	0		ENST00000333957		ENSG00000111731	29062		36			HGNC	-		C2CD5		SNV							ENST00000333957	protein_coding							C		-/4436							YES	C2CD5,splice_donor_variant,,ENST00000333957,NM_014802.1;C2CD5,splice_donor_variant,,ENST00000536386,NM_001286173.1;C2CD5,splice_donor_variant,,ENST00000446597,NM_001286176.1;C2CD5,splice_donor_variant,,ENST00000544930,;C2CD5,splice_donor_variant,,ENST00000545552,NM_001286175.1;C2CD5,splice_donor_variant,,ENST00000396028,NM_001286177.1;C2CD5,splice_donor_variant,,ENST00000542676,NM_001286174.1;C2CD5,downstream_gene_variant,,ENST00000535555,;C2CD5,downstream_gene_variant,,ENST00000543855,;C2CD5,splice_donor_variant,,ENST00000541310,;C2CD5,splice_donor_variant,,ENST00000543797,;C2CD5,non_coding_transcript_exon_variant,,ENST00000542768,;C2CD5,downstream_gene_variant,,ENST00000542683,;							HIGH	1550/3003		C2CD5_HUMAN			Transcript			.	ENSP00000334229		CCDS31758.1			1	
EHD3	0	LGGM	GRCh37	2	31483598	31483598	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	34	5	.	.	ENST00000322054.5:c.725A>C	p.Lys242Thr	p.K242T	ENST00000322054	NM_014600.2	242	aAg/aCg	0	1	1	UPI0000140D07	0	getma.org/pdb.php?prot=EHD3_HUMAN&from=222&to=421&var=K242T	ENST00000322054		ENSG00000013016	3244		39	3.545		HGNC	p.K242T		EHD3		SNV							ENST00000322054	protein_coding	getma.org/?cm=var&var=hg19,2,31483598,A,C&fts=all		PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Superfamily_domains:SSF52540		K/T		C	high	1010/4636		getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=222&re=421&var=K242T	deleterious(0)				YES	EHD3,missense_variant,p.Lys242Thr,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;							MODERATE	725/1608	K242T	EHD3_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000327116		CCDS1774.1			1	
OR5M1	0	LGGM	GRCh37	11	56380588	56380588	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	83	5	.	.	ENST00000526538.1:c.391C>T	p.His131Tyr	p.H131Y	ENST00000526538	NM_001004740.1	131	Cat/Tat	0	1	1	UPI0000041C9B	0	getma.org/pdb.php?prot=OR5M1_HUMAN&from=1&to=138&var=H131Y	ENST00000526538		ENSG00000255012	8352		88	1.45		HGNC	p.H131Y		OR5M1		SNV							ENST00000526538	protein_coding	getma.org/?cm=var&var=hg19,11,56380588,G,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF98,Superfamily_domains:SSF81321		H/Y		A	low	391/948		getma.org/?cm=msa&ty=f&p=OR5M1_HUMAN&rb=1&re=138&var=H131Y	tolerated(0.24)				YES	OR5M1,missense_variant,p.His131Tyr,ENST00000526538,NM_001004740.1;							MODERATE	391/948	H131Y	OR5M1_HUMAN			Transcript		benign(0.013)	.	ENSP00000435416		CCDS53631.1			1	
SNX9	0	LGGM	GRCh37	6	158358480	158358480	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	43	5	.	.	ENST00000392185.3:c.1458C>G	p.Leu486=	p.L486=	ENST00000392185	NM_016224.4	486	ctC/ctG	0	1	1	UPI0000135B47	0		ENST00000392185		ENSG00000130340	14973		48			HGNC	p.L486L		SNX9		SNV							ENST00000539592	protein_coding			hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF14,Pfam_domain:PF10456,PIRSF_domain:PIRSF027744		L		G		1629/4198				B3KXH8_HUMAN			YES	SNX9,synonymous_variant,p.=,ENST00000392185,NM_016224.4;RNU6-786P,downstream_gene_variant,,ENST00000516849,;							LOW	1458/1788		SNX9_HUMAN			Transcript			.	ENSP00000376024		CCDS5253.1			1	
RHOBTB2	0	LGGM	GRCh37	8	22865551	22865551	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	12	5	.	.	ENST00000519685.1:c.1613C>T	p.Pro538Leu	p.P538L	ENST00000519685	NM_001160036.1	538	cCc/cTc	0	1		UPI000013342C	0	getma.org/pdb.php?prot=RHBT2_HUMAN&from=490&to=598&var=P516L	ENST00000251822		ENSG00000008853	18756		17	0.77		HGNC	p.P523L		RHOBTB2		SNV							ENST00000522948	protein_coding	getma.org/?cm=var&var=hg19,8,22865551,C,T&fts=all		Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,PROSITE_profiles:PS50097		P/L		T	neutral	2084/5451		getma.org/?cm=msa&ty=f&p=RHBT2_HUMAN&rb=490&re=598&var=P516L	deleterious(0.02)					RHOBTB2,missense_variant,p.Pro516Leu,ENST00000251822,NM_015178.2;RHOBTB2,missense_variant,p.Pro523Leu,ENST00000522948,NM_001160037.1;RHOBTB2,missense_variant,p.Pro538Leu,ENST00000519685,NM_001160036.1;RHOBTB2,downstream_gene_variant,,ENST00000524077,;RP11-875O11.1,non_coding_transcript_exon_variant,,ENST00000502083,;RP11-875O11.1,upstream_gene_variant,,ENST00000523884,;RHOBTB2,downstream_gene_variant,,ENST00000523918,;RHOBTB2,non_coding_transcript_exon_variant,,ENST00000519210,;RHOBTB2,downstream_gene_variant,,ENST00000517528,;							MODERATE	1547/2184	P516L	RHBT2_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000251822		CCDS6034.1			1	
LRRC8A	0	LGGM	GRCh37	9	131671066	131671066	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	8	5	.	.	ENST00000259324.5:c.1623G>A	p.Arg541=	p.R541=	ENST00000259324	NM_001127244.1	541	cgG/cgA	0	1	1	UPI000004EF9E	0		ENST00000259324		ENSG00000136802	19027		13			HGNC	p.R541R	rs746343617	LRRC8A		SNV			1				ENST00000372600	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		R		A		2146/4619				Q96SW8_HUMAN			YES	LRRC8A,synonymous_variant,p.=,ENST00000259324,NM_001127244.1;LRRC8A,synonymous_variant,p.=,ENST00000372600,NM_019594.3;LRRC8A,synonymous_variant,p.=,ENST00000372599,NM_001127245.1;LRRC8A,upstream_gene_variant,,ENST00000492784,;	0.000116						LOW	1623/2433		LRC8A_HUMAN			Transcript			.	ENSP00000259324	8.24E-06	CCDS35155.1			1	
BRD1	0	LGGM	GRCh37	22	50187745	50187745	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	9	6	.	.	ENST00000216267.8:c.2296G>T	p.Gly766Trp	p.G766W	ENST00000216267	NM_014577.1	766	Ggg/Tgg	0	1	1	UPI0000126ACA	0	NA	ENST00000216267		ENSG00000100425	1102		15	1.24		HGNC	p.G361W		BRD1		SNV							ENST00000342989	protein_coding	getma.org/?cm=var&var=hg19,22,50187745,C,A&fts=all		hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17		G/W		A	low	2783/4614		getma.org/?cm=msa&ty=f&p=BRD1_HUMAN&rb=655&re=854&var=G766W	deleterious(0.01)	Q659H0_HUMAN			YES	BRD1,missense_variant,p.Gly766Trp,ENST00000216267,NM_014577.1;BRD1,missense_variant,p.Gly766Trp,ENST00000404760,;BRD1,missense_variant,p.Gly766Trp,ENST00000457780,;BRD1,missense_variant,p.Gly766Trp,ENST00000404034,;BRD1,missense_variant,p.Gly361Trp,ENST00000342989,;BRD1,missense_variant,p.Gly454Trp,ENST00000542442,;BRD1,missense_variant,p.Gly398Trp,ENST00000438393,;							MODERATE	2296/3177	G766W	BRD1_HUMAN			Transcript		benign(0.199)	.	ENSP00000216267		CCDS14080.1			1	
TTN	0	LGGM	GRCh37	2	179432274	179432274	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	46	6	.	.	ENST00000589042.1:c.78585G>T	p.Met26195Ile	p.M26195I	ENST00000589042	NM_001267550.1	26195	atG/atT	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=24552&to=24642&var=M24554I	ENST00000591111		ENSG00000155657	12403		52	-0.37		HGNC	p.M17255I		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179432274,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		M/I		A	neutral	73887/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=24552&re=24642&var=M24554I		C9JQJ2_HUMAN				TTN,missense_variant,p.Met26195Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Met24554Ile,ENST00000591111,;TTN,missense_variant,p.Met23627Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Met17322Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Met17255Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Met17130Ile,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,;							MODERATE	73662/103053	M24554I	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
EHD3	0	LGGM	GRCh37	2	31483750	31483750	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	72	6	.	.	ENST00000322054.5:c.877A>C	p.Lys293Gln	p.K293Q	ENST00000322054	NM_014600.2	293	Aag/Cag	0	1	1	UPI0000140D07	0	getma.org/pdb.php?prot=EHD3_HUMAN&from=222&to=421&var=K293Q	ENST00000322054		ENSG00000013016	3244		78	3.515		HGNC	p.K293Q		EHD3		SNV							ENST00000322054	protein_coding	getma.org/?cm=var&var=hg19,2,31483750,A,C&fts=all		hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Superfamily_domains:SSF52540		K/Q		C	high	1162/4636		getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=222&re=421&var=K293Q	deleterious(0)				YES	EHD3,missense_variant,p.Lys293Gln,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;							MODERATE	877/1608	K293Q	EHD3_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000327116		CCDS1774.1			1	
R3HDML	0	LGGM	GRCh37	20	42966013	42966013	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	11	7	.	.	ENST00000217043.2:c.216C>T	p.His72=	p.H72=	ENST00000217043	NM_178491.3	72	caC/caT	0	1	1	UPI00000422F8	0		ENST00000217043		ENSG00000101074	16249		18			HGNC	p.H72H		R3HDML		SNV							ENST00000217043	protein_coding			Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF62,SMART_domains:SM00198,Superfamily_domains:SSF55797		H		T		388/1377							YES	R3HDML,synonymous_variant,p.=,ENST00000217043,NM_178491.3;							LOW	216/762		CRSPL_HUMAN			Transcript			.	ENSP00000217043		CCDS13329.1			1	
ZNF28	0	LGGM	GRCh37	19	53303629	53303629	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	61	7	.	.	ENST00000457749.2:c.1469C>G	p.Thr490Ser	p.T490S	ENST00000457749	NM_006969.3	490	aCt/aGt	0	1	1	UPI00001D8190	0	getma.org/pdb.php?prot=ZNF28_HUMAN&from=481&to=506&var=T490S	ENST00000457749		ENSG00000198538	13073		68	0.425		HGNC	p.T437S	rs370588244	ZNF28		SNV	C:0.0002			9.65E-05			ENST00000360272	protein_coding	getma.org/?cm=var&var=hg19,19,53303629,G,C&fts=all	C:0	Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667		T/S	C:0	C	neutral	1589/4556		getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=461&re=526&var=T490S	tolerated(0.14)	C9K0H3_HUMAN	C:0	C:0.001	YES	ZNF28,missense_variant,p.Thr437Ser,ENST00000438150,;ZNF28,missense_variant,p.Thr490Ser,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Thr437Ser,ENST00000360272,;ZNF28,missense_variant,p.Thr437Ser,ENST00000414252,;ZNF28,missense_variant,p.Thr437Ser,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;	0.000116	C:0.0002					MODERATE	1469/2157	T490S	ZNF28_HUMAN		C:0	Transcript		benign(0.003)	.	ENSP00000397693	1.65E-05	CCDS33093.2		C:0	1	
LINC00998	0	LGGM	GRCh37	7	112757553	112757553	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	88	7	.	.	ENST00000397764.3:c.81C>T	p.Ala27=	p.A27=	ENST00000397764		27	gcC/gcT	0	1	1	UPI0000037793	0		ENST00000397764		ENSG00000214194	48953		95			HGNC	p.A27A		LINC00998		SNV							ENST00000441359	protein_coding			Low_complexity_(Seg):seg		A		A		290/1070				C9IZ59_HUMAN			YES	LINC00998,synonymous_variant,p.=,ENST00000397764,;LINC00998,synonymous_variant,p.=,ENST00000441359,;LINC00998,synonymous_variant,p.=,ENST00000413744,;LINC00998,synonymous_variant,p.=,ENST00000439551,;RP11-736E3.1,intron_variant,,ENST00000441928,;							LOW	81/180		YG055_HUMAN			Transcript			.	ENSP00000380871					1	
ARHGEF40	0	LGGM	GRCh37	14	21543880	21543880	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	11	9	.	.	ENST00000298694.4:c.1695A>C	p.Arg565=	p.R565=	ENST00000298694	NM_001278529.1	565	cgA/cgC	0	1	1	UPI00001FCFB7	0		ENST00000298694		ENSG00000165801	25516		20			HGNC	p.R565R		ARHGEF40		SNV							ENST00000298693	protein_coding			hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826		R		C		1822/5919							YES	ARHGEF40,synonymous_variant,p.=,ENST00000298694,NM_001278529.1,NM_018071.4,NM_001278530.1;ARHGEF40,synonymous_variant,p.=,ENST00000298693,;ARHGEF40,downstream_gene_variant,,ENST00000555038,;NDRG2,upstream_gene_variant,,ENST00000403829,NM_001282211.1;ARHGEF40,synonymous_variant,p.=,ENST00000553709,;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555052,;ARHGEF40,intron_variant,,ENST00000555232,;							LOW	1695/4560		ARH40_HUMAN			Transcript			.	ENSP00000298694		CCDS32041.1			1	
MON1B	0	LGGM	GRCh37	16	77229573	77229573	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	5	9	.	.	ENST00000248248.3:c.1437G>T	p.Leu479=	p.L479=	ENST00000248248	NM_014940.2	479	ctG/ctT	0	1	1	UPI0000072AD7	0		ENST00000248248		ENSG00000103111	25020		14			HGNC	p.W143L		MON1B		SNV							ENST00000320859	protein_coding			Prints_domain:PR01546,Pfam_domain:PF03164,hmmpanther:PTHR13027:SF13,hmmpanther:PTHR13027		L		T		1787/6091				H3BUX9_HUMAN,H3BU99_HUMAN,H3BR21_HUMAN,H3BPL8_HUMAN			YES	MON1B,missense_variant,p.Trp143Leu,ENST00000320859,;MON1B,synonymous_variant,p.=,ENST00000248248,NM_014940.2;MON1B,synonymous_variant,p.=,ENST00000545553,NM_001286640.1;MON1B,synonymous_variant,p.=,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,;							LOW	1437/1644		MON1B_HUMAN			Transcript			.	ENSP00000248248		CCDS10925.1			1	
EXT2	0	LGGM	GRCh37	11	44151663	44151663	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	29	9	.	.	ENST00000395673.3:c.1247G>A	p.Arg416Lys	p.R416K	ENST00000395673	NM_000401.3	416	aGa/aAa	0	1		UPI000012A3A5	0	NA	ENST00000343631		ENSG00000151348	3513		38	1.01		HGNC	p.R383K		EXT2		SNV			1				ENST00000358681	protein_coding	getma.org/?cm=var&var=hg19,11,44151663,G,A&fts=all		hmmpanther:PTHR11062,hmmpanther:PTHR11062:SF6		R/K		A	low	1277/3424		getma.org/?cm=msa&ty=f&p=EXT2_HUMAN&rb=381&re=455&var=R383K	tolerated(0.64)	E9PNL9_HUMAN,E9PJA5_HUMAN				EXT2,missense_variant,p.Arg416Lys,ENST00000395673,NM_000401.3;EXT2,missense_variant,p.Arg383Lys,ENST00000343631,;EXT2,missense_variant,p.Arg383Lys,ENST00000533608,NM_207122.1;EXT2,missense_variant,p.Arg383Lys,ENST00000358681,NM_001178083.1;EXT2,non_coding_transcript_exon_variant,,ENST00000531161,;EXT2,non_coding_transcript_exon_variant,,ENST00000534048,;EXT2,non_coding_transcript_exon_variant,,ENST00000525559,;							MODERATE	1148/2157	R383K	EXT2_HUMAN			Transcript		benign(0.008)	.	ENSP00000342656		CCDS7908.1			1	
SLC12A5	0	LGGM	GRCh37	20	44676118	44676118	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	44	9	.	.	ENST00000454036.2:c.1882C>T	p.Leu628Phe	p.L628F	ENST00000454036	NM_001134771.1	628	Ctc/Ttc	0	1	1	UPI00015F4605	0	getma.org/pdb.php?prot=S12A5_HUMAN&from=412&to=699&var=L628F	ENST00000454036		ENSG00000124140	13818		53	2.915		HGNC	p.L628F		SLC12A5		SNV							ENST00000454036	protein_coding	getma.org/?cm=var&var=hg19,20,44676118,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930		L/F		T	medium	1931/3566		getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=412&re=699&var=L628F	deleterious(0.01)	B7Z3I0_HUMAN			YES	SLC12A5,missense_variant,p.Leu605Phe,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Leu628Phe,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000608594,;SLC12A5,3_prime_UTR_variant,,ENST00000539566,;							MODERATE	1882/3420	L628F	S12A5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000387694		CCDS46610.1			1	
MGAM	0	LGGM	GRCh37	7	141800692	141800692	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	12	10	.	.	ENST00000549489.2:c.5275+2T>A		p.X1759_splice	ENST00000549489	NM_004668.2			0	1	1	UPI000183CB7B	0		ENST00000549489		ENSG00000257335	7043		22			HGNC	-		MGAM		SNV							ENST00000549489	protein_coding							A		-/6525				Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,splice_donor_variant,,ENST00000475668,;MGAM,splice_donor_variant,,ENST00000549489,NM_004668.2;MGAM,downstream_gene_variant,,ENST00000485078,;							HIGH	5275/5574		MGA_HUMAN			Transcript			.	ENSP00000447378		CCDS47727.1			1	
DLG2	0	LGGM	GRCh37	11	83183774	83183774	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	12	10	.	.	ENST00000376104.2:c.2340G>C	p.Gln780His	p.Q780H	ENST00000376104	NM_001142699.1	780	caG/caC	0	1		UPI000047CAFF	0	NA	ENST00000398309		ENSG00000150672	2901		22	1.68		HGNC	p.Q642H		DLG2		SNV							ENST00000531015	protein_coding	getma.org/?cm=var&var=hg19,11,83183774,C,G&fts=all		Superfamily_domains:SSF50044,PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF6		Q/H		G	low	2496/7890		getma.org/?cm=msa&ty=f&p=DLG2_HUMAN&rb=605&re=678&var=Q675H	tolerated(0.11)	F8W750_HUMAN,E9PQT9_HUMAN				DLG2,missense_variant,p.Gln675His,ENST00000398309,NM_001364.3;DLG2,missense_variant,p.Gln139His,ENST00000426717,NM_001142702.1;DLG2,missense_variant,p.Gln780His,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Gln780His,ENST00000543673,;DLG2,missense_variant,p.Gln714His,ENST00000280241,NM_001206769.1;DLG2,missense_variant,p.Gln554His,ENST00000418306,NM_001142700.1;DLG2,missense_variant,p.Gln642His,ENST00000531015,;DLG2,missense_variant,p.Gln657His,ENST00000532653,;DLG2,missense_variant,p.Gln671His,ENST00000524982,;DLG2,missense_variant,p.Gln425His,ENST00000537455,;DLG2,missense_variant,p.Gln596His,ENST00000330014,;DLG2,missense_variant,p.Gln139His,ENST00000376106,;DLG2,missense_variant,p.Gln153His,ENST00000404783,;DLG2,missense_variant,p.Gln157His,ENST00000420775,;DLG2,intron_variant,,ENST00000457267,;DLG2,downstream_gene_variant,,ENST00000524601,;							MODERATE	2025/2613	Q675H	DLG2_HUMAN			Transcript		benign(0.177)	.	ENSP00000381355		CCDS41696.1			1	
PNPLA6	0	LGGM	GRCh37	19	7607778	7607778	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	14	10	.	.	ENST00000414982.3:c.1521A>T	p.Ala507=	p.A507=	ENST00000414982	NM_001166111.1	507	gcA/gcT	0	1	1	UPI0001AE63FF	0		ENST00000414982		ENSG00000032444	16268		24			HGNC	p.A459A		PNPLA6		SNV			1				ENST00000221249	protein_coding			hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF26		A		T		1716/4522							YES	PNPLA6,synonymous_variant,p.=,ENST00000221249,NM_006702.4;PNPLA6,synonymous_variant,p.=,ENST00000414982,NM_001166111.1;PNPLA6,synonymous_variant,p.=,ENST00000545201,NM_001166112.1;PNPLA6,synonymous_variant,p.=,ENST00000450331,NM_001166113.1;PNPLA6,synonymous_variant,p.=,ENST00000600737,NM_001166114.1;PNPLA6,downstream_gene_variant,,ENST00000601001,;PNPLA6,downstream_gene_variant,,ENST00000595264,;PNPLA6,downstream_gene_variant,,ENST00000601668,;PNPLA6,downstream_gene_variant,,ENST00000593924,;PNPLA6,downstream_gene_variant,,ENST00000594551,;PNPLA6,downstream_gene_variant,,ENST00000600942,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000599311,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000595176,;PNPLA6,non_coding_transcript_exon_variant,,ENST00000595889,;CTD-2207O23.10,downstream_gene_variant,,ENST00000601870,;PNPLA6,downstream_gene_variant,,ENST00000598462,;PNPLA6,downstream_gene_variant,,ENST00000602191,;							LOW	1521/4128		PLPL6_HUMAN			Transcript			.	ENSP00000407509		CCDS54206.1			1	
MXRA5	0	LGGM	GRCh37	X	3239036	3239036	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	27	11	.	.	ENST00000217939.6:c.4690G>A	p.Asp1564Asn	p.D1564N	ENST00000217939	NM_015419.3	1564	Gac/Aac	0	1	1	UPI000013C73B	0	NA	ENST00000217939		ENSG00000101825	7539		38	-0.345		HGNC	p.D1564N	rs774060125	MXRA5		SNV							ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3239036,C,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582		D/N		T	neutral	4845/9793	4.17E-05	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=1526&re=1725&var=D1564N	tolerated(1)				YES	MXRA5,missense_variant,p.Asp1564Asn,ENST00000217939,NM_015419.3;							MODERATE	4690/8487	D1564N	MXRA5_HUMAN			Transcript		benign(0)	.	ENSP00000217939	2.47E-05	CCDS14124.1			1	
PLP2	0	LGGM	GRCh37	X	49029885	49029885	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	10	11	.	.	ENST00000376327.5:c.345+55G>A		*115*	ENST00000376327	NM_002668.2			0	1	1	UPI0000117AEB	0		ENST00000376327		ENSG00000102007	9087		21			HGNC	p.G134R		PLP2		SNV							ENST00000376322	protein_coding							A		-/1079							YES	PLP2,missense_variant,p.Gly134Arg,ENST00000376322,;PLP2,intron_variant,,ENST00000376327,NM_002668.2;PRICKLE3,downstream_gene_variant,,ENST00000376317,NM_006150.3;PRICKLE3,downstream_gene_variant,,ENST00000536904,;PRICKLE3,downstream_gene_variant,,ENST00000540849,;PRICKLE3,downstream_gene_variant,,ENST00000453382,;PRICKLE3,downstream_gene_variant,,ENST00000538114,;PRICKLE3,downstream_gene_variant,,ENST00000432913,;							MODIFIER	-/459		PLP2_HUMAN			Transcript			.	ENSP00000365505		CCDS14319.1			1	
DKK2	0	LGGM	GRCh37	4	107956650	107956650	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	24	12	.	.	ENST00000285311.3:c.99C>G	p.Ala33=	p.A33=	ENST00000285311	NM_014421.2	33	gcC/gcG	0	1	1	UPI0000048EF2	0		ENST00000285311		ENSG00000155011	2892		36			HGNC	p.A33A		DKK2		SNV							ENST00000285311	protein_coding					A		C		805/3638				D6RGF1_HUMAN			YES	DKK2,synonymous_variant,p.=,ENST00000285311,NM_014421.2;DKK2,intron_variant,,ENST00000513208,;DKK2,intron_variant,,ENST00000510463,;DKK2,non_coding_transcript_exon_variant,,ENST00000510534,;							LOW	99/780		DKK2_HUMAN			Transcript			.	ENSP00000285311		CCDS3675.1			1	
ATP10B	0	LGGM	GRCh37	5	160044878	160044878	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	20	12	.	.	ENST00000327245.5:c.2519C>A	p.Ala840Asp	p.A840D	ENST00000327245	NM_025153.2	840	gCc/gAc	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		32	3.57		HGNC	p.A448D		ATP10B		SNV							ENST00000520108	protein_coding	getma.org/?cm=var&var=hg19,5,160044878,G,T&fts=all		Superfamily_domains:SSF81660,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Gene3D:3.40.1110.10,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		A/D		T	high	3366/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=430&re=1064&var=A840D	deleterious(0)				YES	ATP10B,missense_variant,p.Ala840Asp,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Ala448Asp,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;ATP10B,upstream_gene_variant,,ENST00000522169,;							MODERATE	2519/4386	A840D	AT10B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000313600		CCDS43394.1			1	
PCLO	0	LGGM	GRCh37	7	82582498	82582498	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	151	12	.	.	ENST00000333891.9:c.7771A>C	p.Thr2591Pro	p.T2591P	ENST00000333891	NM_033026.5	2591	Act/Cct	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		163	1.7		HGNC	p.T2591P		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82582498,T,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		T/P		G	low	8109/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=T2522P					YES	PCLO,missense_variant,p.Thr2591Pro,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Thr2591Pro,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	7771/15429	T2522P	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
RB1	0	LGGM	GRCh37	13	48936995	48936995	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	15	27	.	.	ENST00000267163.4:c.763C>T	p.Arg255Ter	p.R255*	ENST00000267163	NM_000321.2	255	Cga/Tga	0	1	1	UPI0000001C79	0	NA	ENST00000267163	pathogenic	ENSG00000139687	9884		42	0		HGNC	p.R255*	rs587778842,COSM943	RB1		SNV			1			1,1	ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48936995,C,T&fts=all		hmmpanther:PTHR13742		R/*		T	NA	901/4840		NA		Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,stop_gained,p.Arg255Ter,ENST00000267163,NM_000321.2;RB1,3_prime_UTR_variant,,ENST00000467505,;RB1,downstream_gene_variant,,ENST00000525036,;					0,1		HIGH	763/2787	R255*	RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
CELF4	0	LGGM	GRCh37	18	34854409	34854409	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	15	13	.	.	ENST00000420428.2:c.666G>C	p.Ser222=	p.S222=	ENST00000420428	NM_020180.3	222	tcG/tcC	0	1	1	UPI00000726FC	0		ENST00000420428		ENSG00000101489	14015		28			HGNC	p.R205P		CELF4		SNV							ENST00000590112	protein_coding			PROSITE_profiles:PS50102,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF181,SMART_domains:SM00360,Superfamily_domains:SSF54928		S		G		1062/4052				K7EJK3_HUMAN			YES	CELF4,synonymous_variant,p.=,ENST00000420428,NM_020180.3;CELF4,synonymous_variant,p.=,ENST00000412753,NM_001025088.1,NM_001025087.1;CELF4,synonymous_variant,p.=,ENST00000591287,;CELF4,synonymous_variant,p.=,ENST00000334919,NM_001025089.1;CELF4,synonymous_variant,p.=,ENST00000603232,;CELF4,synonymous_variant,p.=,ENST00000361795,;CELF4,synonymous_variant,p.=,ENST00000601019,;CELF4,synonymous_variant,p.=,ENST00000591282,;CELF4,synonymous_variant,p.=,ENST00000588597,;CELF4,synonymous_variant,p.=,ENST00000601392,;CELF4,synonymous_variant,p.=,ENST00000587819,;CELF4,synonymous_variant,p.=,ENST00000589229,;CELF4,upstream_gene_variant,,ENST00000588591,;CELF4,upstream_gene_variant,,ENST00000586009,;CELF4,upstream_gene_variant,,ENST00000589386,;CELF4,upstream_gene_variant,,ENST00000593271,;CELF4,upstream_gene_variant,,ENST00000587657,;CELF4,downstream_gene_variant,,ENST00000587924,;RP11-797E24.3,intron_variant,,ENST00000588766,;RP11-797E24.3,upstream_gene_variant,,ENST00000586610,;CELF4,upstream_gene_variant,,ENST00000587074,;CELF4,missense_variant,p.Arg205Pro,ENST00000590112,;CELF4,upstream_gene_variant,,ENST00000591421,;							LOW	666/1461		CELF4_HUMAN			Transcript			.	ENSP00000410584		CCDS32818.1			1	
SYNE1	0	LGGM	GRCh37	6	152565773	152565773	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	23	14	.	.	ENST00000367255.5:c.19591G>T	p.Asp6531Tyr	p.D6531Y	ENST00000367255	NM_182961.3	6531	Gat/Tat	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		37	1.59		HGNC	p.D6460Y		SYNE1		SNV			1				ENST00000448038	protein_coding	getma.org/?cm=var&var=hg19,6,152565773,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		D/Y		A	low	20193/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=6436&re=6635&var=D6531Y					YES	SYNE1,missense_variant,p.Asp6531Tyr,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asp6531Tyr,ENST00000265368,;SYNE1,missense_variant,p.Asp6460Tyr,ENST00000448038,;SYNE1,missense_variant,p.Asp6460Tyr,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Asp6143Tyr,ENST00000341594,;SYNE1,missense_variant,p.Asp1055Tyr,ENST00000356820,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;							MODERATE	19591/26394	D6531Y	SYNE1_HUMAN			Transcript		benign(0.398)	.	ENSP00000356224		CCDS5236.2			1	
CCDC158	0	LGGM	GRCh37	4	77300463	77300463	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	25	14	.	.	ENST00000388914.3:c.1009A>G	p.Lys337Glu	p.K337E	ENST00000388914	NM_001042784.1	337	Aaa/Gaa	0	1	1	UPI00004DF23B	0	NA	ENST00000388914		ENSG00000163749	26374		39	0.55		HGNC	p.K337E		CCDC158		SNV							ENST00000434846	protein_coding	getma.org/?cm=var&var=hg19,4,77300463,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140		K/E		C	neutral	1162/3663		getma.org/?cm=msa&ty=f&p=CD158_HUMAN&rb=251&re=1111&var=K337E	deleterious(0)				YES	CCDC158,missense_variant,p.Lys337Glu,ENST00000388914,NM_001042784.1;CCDC158,missense_variant,p.Lys337Glu,ENST00000434846,;							MODERATE	1009/3342	K337E	CD158_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000373566		CCDS43242.1			1	
TIAM2	0	LGGM	GRCh37	6	155575644	155575644	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	20	16	.	.	ENST00000461783.3:c.4405G>A	p.Glu1469Lys	p.E1469K	ENST00000461783		1469	Gag/Aag	0	1		UPI00004DF8BE	0	NA	ENST00000318981		ENSG00000146426	11806		36	1.39		HGNC	p.E805K		TIAM2		SNV							ENST00000528391	protein_coding	getma.org/?cm=var&var=hg19,6,155575644,G,A&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		E/K		A	low	4613/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1347&re=1478&var=E1469K	deleterious(0.02)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Glu1469Lys,ENST00000461783,;TIAM2,missense_variant,p.Glu1498Lys,ENST00000456144,;TIAM2,missense_variant,p.Glu845Lys,ENST00000367174,;TIAM2,missense_variant,p.Glu1469Lys,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Glu1493Lys,ENST00000360366,;TIAM2,missense_variant,p.Glu1498Lys,ENST00000529824,;TIAM2,missense_variant,p.Glu805Lys,ENST00000528391,;TIAM2,missense_variant,p.Glu781Lys,ENST00000456877,;TIAM2,missense_variant,p.Glu394Lys,ENST00000275246,NM_001010927.2;TIAM2,downstream_gene_variant,,ENST00000528535,;TFB1M,downstream_gene_variant,,ENST00000367166,NM_016020.3;RP11-477D19.2,non_coding_transcript_exon_variant,,ENST00000435295,;TFB1M,downstream_gene_variant,,ENST00000468889,;TFB1M,downstream_gene_variant,,ENST00000495806,;TFB1M,downstream_gene_variant,,ENST00000470239,;TIAM2,non_coding_transcript_exon_variant,,ENST00000537845,;							MODERATE	4405/5106	E1469K	TIAM2_HUMAN			Transcript		benign(0.24)	.	ENSP00000327315		CCDS34558.1			1	
DNAH8	0	LGGM	GRCh37	6	38790741	38790741	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	21	16	.	.	ENST00000359357.3:c.3000T>C	p.Ala1000=	p.A1000=	ENST00000359357		1000	gcT/gcC	0	1	1	UPI00003677EB	0		ENST00000359357		ENSG00000124721	2952		37			HGNC	p.A1000A		DNAH8		SNV							ENST00000441566	protein_coding			hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		A		C		3254/13860							YES	DNAH8,synonymous_variant,p.=,ENST00000327475,NM_001206927.1;DNAH8,synonymous_variant,p.=,ENST00000359357,;DNAH8,synonymous_variant,p.=,ENST00000441566,;DNAH8,synonymous_variant,p.=,ENST00000449981,;SNORA8,upstream_gene_variant,,ENST00000391284,;							LOW	3000/13473		DYH8_HUMAN			Transcript			.	ENSP00000352312					1	
STAP1	0	LGGM	GRCh37	4	68424646	68424646	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	56	16	.	.	ENST00000265404.2:c.119G>A	p.Arg40Gln	p.R40Q	ENST00000265404	NM_012108.2	40	cGg/cAg	0	1	1	UPI0000073E6C	0	getma.org/pdb.php?prot=STAP1_HUMAN&from=25&to=121&var=R40Q	ENST00000265404		ENSG00000035720	24133	8.64E-05	72	-1.19		HGNC	p.R40Q	rs756002065	STAP1		SNV							ENST00000396225	protein_coding	getma.org/?cm=var&var=hg19,4,68424646,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF10,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/Q		A	neutral	201/1511	6.02E-05	getma.org/?cm=msa&ty=f&p=STAP1_HUMAN&rb=25&re=121&var=R40Q	tolerated(1)				YES	STAP1,missense_variant,p.Arg40Gln,ENST00000265404,NM_012108.2;STAP1,missense_variant,p.Arg40Gln,ENST00000396225,;							MODERATE	119/888	R40Q	STAP1_HUMAN			Transcript		benign(0)	.	ENSP00000265404	4.12E-05	CCDS3515.1			1	
COPB2	0	LGGM	GRCh37	3	139090599	139090599	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	31	17	.	.	ENST00000333188.5:c.1171G>T	p.Ala391Ser	p.A391S	ENST00000333188	NM_004766.2	391	Gct/Tct	0	1	1	UPI0000161FB4	0	getma.org/pdb.php?prot=COPB2_HUMAN&from=319&to=763&var=A391S	ENST00000333188		ENSG00000184432	2232		48	2.685		HGNC	p.A14S		COPB2		SNV							ENST00000512309	protein_coding	getma.org/?cm=var&var=hg19,3,139090599,C,A&fts=all		Superfamily_domains:SSF50978,PIRSF_domain:PIRSF005567,Pfam_domain:PF04053,hmmpanther:PTHR19876		A/S		A	medium	1353/3360		getma.org/?cm=msa&ty=f&p=COPB2_HUMAN&rb=319&re=763&var=A391S	deleterious(0)	D6RCL6_HUMAN,D6RBZ7_HUMAN,D6RBT6_HUMAN,D6RBG7_HUMAN,B4DZI8_HUMAN			YES	COPB2,missense_variant,p.Ala391Ser,ENST00000333188,NM_004766.2;COPB2,missense_variant,p.Ala362Ser,ENST00000507777,;COPB2,missense_variant,p.Ala14Ser,ENST00000512309,;COPB2,downstream_gene_variant,,ENST00000515006,;COPB2,downstream_gene_variant,,ENST00000510181,;							MODERATE	1171/2721	A391S	COPB2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000329419		CCDS3108.1			1	
PHF3	0	LGGM	GRCh37	6	64422536	64422536	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	17	19	.	.	ENST00000262043.3:c.5052G>A	p.Leu1684=	p.L1684=	ENST00000262043		1684	ctG/ctA	0	1	1	UPI000007154D	0		ENST00000262043		ENSG00000118482	8921		36			HGNC	p.L1684L		PHF3		SNV							ENST00000393387	protein_coding			hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914		L		A		5392/8233				E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN			YES	PHF3,synonymous_variant,p.=,ENST00000262043,;PHF3,synonymous_variant,p.=,ENST00000393387,NM_015153.2;PHF3,intron_variant,,ENST00000505138,;PHF3,downstream_gene_variant,,ENST00000506783,;PHF3,downstream_gene_variant,,ENST00000515594,;PHF3,3_prime_UTR_variant,,ENST00000509876,;							LOW	5052/6120		PHF3_HUMAN			Transcript			.	ENSP00000262043		CCDS4966.1			1	
TLN2	0	LGGM	GRCh37	15	62942373	62942373	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	22	19	.	.	ENST00000561311.1:c.227G>A	p.Arg76Gln	p.R76Q	ENST00000561311		76	cGg/cAg	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=1&to=91&var=R76Q	ENST00000306829		ENSG00000171914	15447		41	2.71		HGNC	p.R76Q		TLN2		SNV							ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,62942373,G,A&fts=all		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15		R/Q		A	medium	227/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1&re=91&var=R76Q	deleterious(0.01)					TLN2,missense_variant,p.Arg76Gln,ENST00000561311,;TLN2,missense_variant,p.Arg76Gln,ENST00000306829,NM_015059.2;RP11-625H11.1,upstream_gene_variant,,ENST00000558940,;RP11-625H11.1,upstream_gene_variant,,ENST00000560347,;TLN2,non_coding_transcript_exon_variant,,ENST00000474847,;							MODERATE	227/7629	R76Q	TLN2_HUMAN			Transcript		possibly_damaging(0.636)	.	ENSP00000303476		CCDS32261.1			1	
RBL1	0	LGGM	GRCh37	20	35696389	35696389	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	30	20	.	.	ENST00000373664.3:c.491G>T	p.Arg164Met	p.R164M	ENST00000373664	NM_002895.3	164	aGg/aTg	0	1	1	UPI000013D34E	0	NA	ENST00000373664		ENSG00000080839	9893		50	2.78		HGNC	p.R164M		RBL1		SNV							ENST00000373664	protein_coding	getma.org/?cm=var&var=hg19,20,35696389,C,A&fts=all		Pfam_domain:PF11934,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF20		R/M		A	medium	558/5684		getma.org/?cm=msa&ty=f&p=RBL1_HUMAN&rb=70&re=212&var=R164M	deleterious(0)				YES	RBL1,missense_variant,p.Arg164Met,ENST00000373664,NM_002895.3;RBL1,missense_variant,p.Arg164Met,ENST00000344359,NM_183404.2;RBL1,missense_variant,p.Arg24Ile,ENST00000525052,;RBL1,downstream_gene_variant,,ENST00000527999,;							MODERATE	491/3207	R164M	RBL1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000362768		CCDS13289.1			1	
OR8K3	0	LGGM	GRCh37	11	56086143	56086143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	29	21	.	.	ENST00000312711.1:c.361G>T	p.Asp121Tyr	p.D121Y	ENST00000312711	NM_001005202.1	121	Gac/Tac	0	1	1	UPI0000041BE7	0	getma.org/pdb.php?prot=OR8K3_HUMAN&from=1&to=138&var=D121Y	ENST00000312711		ENSG00000181689	15313		50	4.295		HGNC	p.D121Y		OR8K3		SNV							ENST00000312711	protein_coding	getma.org/?cm=var&var=hg19,11,56086143,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		D/Y		T	high	361/939		getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=1&re=138&var=D121Y	deleterious_low_confidence(0)				YES	OR8K3,missense_variant,p.Asp121Tyr,ENST00000312711,NM_001005202.1;							MODERATE	361/939	D121Y	OR8K3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000323555		CCDS31527.1			1	
SRFBP1	0	LGGM	GRCh37	5	121311022	121311022	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	26	24	.	.	ENST00000339397.4:c.138T>A	p.Asp46Glu	p.D46E	ENST00000339397	NM_152546.2	46	gaT/gaA	0	1	1	UPI000006DEC3	0	NA	ENST00000339397		ENSG00000151304	26333		50	1.5		HGNC	p.D46E		SRFBP1		SNV							ENST00000339397	protein_coding	getma.org/?cm=var&var=hg19,5,121311022,T,A&fts=all		hmmpanther:PTHR23325		D/E		A	low	210/2855		getma.org/?cm=msa&ty=f&p=SRFB1_HUMAN&rb=1&re=200&var=D46E	tolerated(0.09)				YES	SRFBP1,missense_variant,p.Asp46Glu,ENST00000339397,NM_152546.2;							MODERATE	138/1290	D46E	SRFB1_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000341324		CCDS43354.1			1	
PTPRB	0	LGGM	GRCh37	12	71029473	71029473	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	73	25	.	.	ENST00000334414.6:c.429T>G	p.Asn143Lys	p.N143K	ENST00000334414	NM_001109754.2	143	aaT/aaG	0	1	1	UPI00002294FA	0	NA	ENST00000334414		ENSG00000127329	9665		98	0.895		HGNC	p.N143K		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,71029473,A,C&fts=all		Gene3D:2.80.10.50		N/K		C	low	474/11332		getma.org/?cm=msa&ty=f&p=F8VSD5_HUMAN&rb=1&re=200&var=N142K	tolerated_low_confidence(0.25)				YES	PTPRB,missense_variant,p.Asn143Lys,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Asn143Lys,ENST00000550358,;PTPRB,missense_variant,p.Asn142Lys,ENST00000551525,;PTPRB,intron_variant,,ENST00000548122,;PTPRR,downstream_gene_variant,,ENST00000283228,NM_002849.3;PTPRR,downstream_gene_variant,,ENST00000440835,NM_130846.2;PTPRR,downstream_gene_variant,,ENST00000378778,NM_001207016.1;PTPRR,downstream_gene_variant,,ENST00000342084,NM_001207015.1;PTPRR,downstream_gene_variant,,ENST00000549308,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRR,downstream_gene_variant,,ENST00000537619,;PTPRR,downstream_gene_variant,,ENST00000547752,;PTPRR,downstream_gene_variant,,ENST00000549107,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;PTPRR,downstream_gene_variant,,ENST00000551219,;							MODERATE	429/6648	N142K	PTPRB_HUMAN			Transcript		benign(0.045)	.	ENSP00000334928		CCDS44943.1			1	
ATP13A3	0	LGGM	GRCh37	3	194168608	194168608	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	90	32	.	.	ENST00000439040.1:c.1281C>T	p.Tyr427=	p.Y427=	ENST00000439040		427	taC/taT	0	1		UPI000049DFC3	0		ENST00000256031		ENSG00000133657	24113		122			HGNC	p.Y427Y		ATP13A3		SNV							ENST00000256031	protein_coding			Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF249,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01657,Transmembrane_helices:TMhelix		Y		A		1683/7322				C9JAP7_HUMAN,C9J7Z7_HUMAN				ATP13A3,synonymous_variant,p.=,ENST00000439040,;ATP13A3,synonymous_variant,p.=,ENST00000256031,NM_024524.3;ATP13A3,non_coding_transcript_exon_variant,,ENST00000485194,;							LOW	1281/3681		AT133_HUMAN			Transcript			.	ENSP00000256031		CCDS43187.1			1	
OR2G2	0	LGGM	GRCh37	1	247752035	247752035	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	33	33	.	.	ENST00000320065.1:c.374G>T	p.Arg125Leu	p.R125L	ENST00000320065	NM_001001915.1	125	cGc/cTc	0	1	1	UPI0000061EB9	0	NA	ENST00000320065		ENSG00000177489	15007		66	4.055		HGNC	p.R125L	rs551970940	OR2G2		SNV							ENST00000320065	protein_coding	getma.org/?cm=var&var=hg19,1,247752035,G,T&fts=all	A:0	PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		R/L		T	high	374/954	1.50E-05	getma.org/?cm=msa&ty=f&p=OR2G2_HUMAN&rb=1&re=141&var=R125L	deleterious(0)		A:0	A:0	YES	OR2G2,missense_variant,p.Arg125Leu,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;		A:0.0002					MODERATE	374/954	R125L	OR2G2_HUMAN		A:0	Transcript		possibly_damaging(0.746)	.	ENSP00000326349	8.24E-06	CCDS31092.1		A:0.001	1	
ADORA1	0	LGGM	GRCh37	1	203098226	203098226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	44	34	.	.	ENST00000367236.4:c.257C>T	p.Pro86Leu	p.P86L	ENST00000367236	NM_001048230.1	86	cCg/cTg	0	1		UPI00000503E1	0	getma.org/pdb.php?prot=AA1R_HUMAN&from=26&to=288&var=P86L	ENST00000309502		ENSG00000163485	262	8.64E-05	78	-0.205		HGNC	p.P86L	rs749278208,COSM172903	ADORA1		SNV						0,1	ENST00000367235	protein_coding	getma.org/?cm=var&var=hg19,1,203098226,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24246,hmmpanther:PTHR24246:SF1,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00424		P/L		T	neutral	668/2896		getma.org/?cm=msa&ty=f&p=AA1R_HUMAN&rb=26&re=288&var=P86L	tolerated(1)					ADORA1,missense_variant,p.Pro86Leu,ENST00000367236,NM_001048230.1;ADORA1,missense_variant,p.Pro86Leu,ENST00000337894,NM_000674.2;ADORA1,missense_variant,p.Pro86Leu,ENST00000309502,;ADORA1,missense_variant,p.Pro86Leu,ENST00000367235,;RP11-335O13.7,upstream_gene_variant,,ENST00000421055,;ADORA1,upstream_gene_variant,,ENST00000464019,;					0,1		MODERATE	257/981	P86L	AA1R_HUMAN			Transcript		benign(0.009)	.	ENSP00000308549	8.24E-06	CCDS1434.1			1	
SKAP1	0	LGGM	GRCh37	17	46262100	46262100	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	61	36	.	.	ENST00000336915.6:c.552T>A	p.Asp184Glu	p.D184E	ENST00000336915	NM_003726.3	184	gaT/gaA	0	1	1	UPI0000200EFD	0	getma.org/pdb.php?prot=SKAP1_HUMAN&from=108&to=210&var=D184E	ENST00000336915		ENSG00000141293	15605		97	1.385		HGNC	p.D184E		SKAP1		SNV							ENST00000336915	protein_coding	getma.org/?cm=var&var=hg19,17,46262100,A,T&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR15129,hmmpanther:PTHR15129:SF1,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		D/E		T	low	622/1534		getma.org/?cm=msa&ty=f&p=SKAP1_HUMAN&rb=108&re=210&var=D184E	deleterious(0.03)	J3QS38_HUMAN,J3QRG3_HUMAN			YES	SKAP1,missense_variant,p.Asp184Glu,ENST00000336915,NM_003726.3,NM_001075099.1;SKAP1,missense_variant,p.Asp184Glu,ENST00000584924,;SKAP1,missense_variant,p.Asp21Glu,ENST00000579336,;RP11-456D7.1,upstream_gene_variant,,ENST00000582246,;SKAP1,3_prime_UTR_variant,,ENST00000584709,;SKAP1,3_prime_UTR_variant,,ENST00000581419,;SKAP1,intron_variant,,ENST00000581400,;							MODERATE	552/1080	D184E	SKAP1_HUMAN			Transcript		possibly_damaging(0.469)	.	ENSP00000338171		CCDS32674.1			1	
TMEM67	0	LGGM	GRCh37	8	94797536	94797536	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090528	H090528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	64	39	.	.	ENST00000453321.3:c.1218A>G	p.Gln406=	p.Q406=	ENST00000453321	NM_153704.5	406	caA/caG	0	1	1	UPI0000D624E9	0		ENST00000453321		ENSG00000164953	28396		103			HGNC	p.Q396Q		TMEM67		SNV			1				ENST00000323130	protein_coding			Pfam_domain:PF09773,hmmpanther:PTHR21274,hmmpanther:PTHR21274:SF0		Q		G		1276/4651				E5RG10_HUMAN,C9JRQ8_HUMAN			YES	TMEM67,synonymous_variant,p.=,ENST00000453321,NM_153704.5;TMEM67,synonymous_variant,p.=,ENST00000409623,NM_001142301.1;TMEM67,synonymous_variant,p.=,ENST00000452276,;TMEM67,synonymous_variant,p.=,ENST00000520680,;TMEM67,intron_variant,,ENST00000453906,;TMEM67,non_coding_transcript_exon_variant,,ENST00000520634,;TMEM67,downstream_gene_variant,,ENST00000425545,;TMEM67,synonymous_variant,p.=,ENST00000323130,;TMEM67,intron_variant,,ENST00000474944,;TMEM67,downstream_gene_variant,,ENST00000496213,;							LOW	1218/2988		MKS3_HUMAN			Transcript			.	ENSP00000389998		CCDS6258.2			1	
GABRA5	0	LGGM	GRCh37	15	27182355	27182355	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090528	H090528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	67	45	.	.	ENST00000335625.5:c.604G>A	p.Val202Ile	p.V202I	ENST00000335625	NM_000810.3	202	Gtt/Att	0	1	1	UPI000002D731	0	getma.org/pdb.php?prot=GBRA5_HUMAN&from=49&to=257&var=V202I	ENST00000335625		ENSG00000186297	4079		112	0.345		HGNC	p.V202I	rs375240262,COSM161196	GABRA5		SNV	A:0.0003			0.000102		0,1	ENST00000355395	protein_coding	getma.org/?cm=var&var=hg19,15,27182355,G,A&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF215,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:0038932		V/I	A:0.0001	A	neutral	1492/3251	4.50E-05	getma.org/?cm=msa&ty=f&p=GBRA5_HUMAN&rb=49&re=257&var=V202I	tolerated(0.88)	G3V408_HUMAN,G3V2Q9_HUMAN,G3V2K2_HUMAN,G3V2G8_HUMAN,G3V296_HUMAN,B4E1A2_HUMAN			YES	GABRA5,missense_variant,p.Val202Ile,ENST00000335625,NM_000810.3;GABRA5,missense_variant,p.Val202Ile,ENST00000400081,NM_001165037.1;GABRA5,missense_variant,p.Val202Ile,ENST00000355395,;GABRB3,intron_variant,,ENST00000541819,;GABRA5,downstream_gene_variant,,ENST00000555182,;					0,1		MODERATE	604/1389	V202I	GBRA5_HUMAN			Transcript		benign(0.021)	.	ENSP00000335592	3.31E-05	CCDS45194.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20206014	20206014	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	56	60	.	.	ENST00000379565.3:c.706G>A	p.Ala236Thr	p.A236T	ENST00000379565	NM_004586.2	236	Gct/Act	0	1	1	UPI000012DB2E	0	getma.org/pdb.php?prot=KS6A3_HUMAN&from=68&to=327&var=A236T	ENST00000379565		ENSG00000177189	10432		116	3.72		HGNC	p.A207T		RPS6KA3		SNV			1				ENST00000457145	protein_coding	getma.org/?cm=var&var=hg19,X,20206014,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		A/T		T	high	914/7918		getma.org/?cm=msa&ty=f&p=KS6A3_HUMAN&rb=68&re=327&var=A236T	deleterious(0)	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,missense_variant,p.Ala236Thr,ENST00000379565,NM_004586.2;RPS6KA3,missense_variant,p.Ala208Thr,ENST00000544447,;RPS6KA3,missense_variant,p.Ala208Thr,ENST00000540702,;RPS6KA3,missense_variant,p.Ala207Thr,ENST00000379548,;RPS6KA3,missense_variant,p.Ala207Thr,ENST00000457145,;							MODERATE	706/2223	A236T	KS6A3_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000368884		CCDS14197.1			1	
ATRX	0	LGGM	GRCh37	X	76855050	76855050	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H090528	H090528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	71	73	.	.	ENST00000373344.5:c.5787-1G>T		p.X1929_splice	ENST00000373344	NM_000489.3			0	1	1	UPI0000161F78	0		ENST00000373344		ENSG00000085224	886		144			HGNC	-		ATRX		SNV			1				ENST00000395603	protein_coding							A		-/11167				B4DLE1_HUMAN			YES	ATRX,splice_acceptor_variant,,ENST00000373344,NM_000489.3;ATRX,splice_acceptor_variant,,ENST00000395603,NM_138270.2;ATRX,splice_acceptor_variant,,ENST00000480283,;ATRX,downstream_gene_variant,,ENST00000479487,;							HIGH	5787/7479		ATRX_HUMAN			Transcript			.	ENSP00000362441		CCDS14434.1			1	
ATRX	0	LGGM	GRCh37	X	76855049	76855049	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090528	H090528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090528N.bam, H090528T.bam	Illumina HiSeq	74	73	.	.	ENST00000373344.5:c.5787A>T	p.Lys1929Asn	p.K1929N	ENST00000373344	NM_000489.3	1929	aaA/aaT	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		147	1.15		HGNC	p.K1891N		ATRX		SNV			1				ENST00000395603	protein_coding	getma.org/?cm=var&var=hg19,X,76855049,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		K/N		A	low	6002/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=1890&re=2075&var=K1929N		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Lys1929Asn,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Lys1891Asn,ENST00000395603,NM_138270.2;ATRX,splice_region_variant,,ENST00000480283,;ATRX,downstream_gene_variant,,ENST00000479487,;							MODERATE	5787/7479	K1929N	ATRX_HUMAN			Transcript		benign(0.119)	.	ENSP00000362441		CCDS14434.1			1	
CMIP	0	LGGM	GRCh37	16	81739177	81739177	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	2	2	.	.	ENST00000537098.3:c.2165C>A	p.Pro722Gln	p.P722Q	ENST00000537098	NM_198390.2	722	cCg/cAg	0	1	1	UPI00001FFCBD	0	NA	ENST00000537098		ENSG00000153815	24319		4	1.14		HGNC	p.P569Q		CMIP		SNV							ENST00000398040	protein_coding	getma.org/?cm=var&var=hg19,16,81739177,C,A&fts=all		Superfamily_domains:SSF52047,Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR25480:SF183,hmmpanther:PTHR25480		P/Q		A	low	2237/4357		getma.org/?cm=msa&ty=f&p=CMIP_HUMAN&rb=700&re=773&var=P722Q	deleterious(0.05)				YES	CMIP,missense_variant,p.Pro722Gln,ENST00000537098,NM_198390.2;CMIP,missense_variant,p.Pro628Gln,ENST00000539778,NM_030629.2;CMIP,missense_variant,p.Pro569Gln,ENST00000398040,;CMIP,non_coding_transcript_exon_variant,,ENST00000566513,;CMIP,non_coding_transcript_exon_variant,,ENST00000561605,;CMIP,downstream_gene_variant,,ENST00000565680,;							MODERATE	2165/2322	P722Q	CMIP_HUMAN			Transcript		possibly_damaging(0.645)	.	ENSP00000446100		CCDS54044.1			1	
SCNN1A	0	LGGM	GRCh37	12	6458524	6458524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	2	2	.	.	ENST00000360168.3:c.1585G>T	p.Gly529Cys	p.G529C	ENST00000360168	NM_001159576.1	529	Ggc/Tgc	0	1		UPI0000000DC4	0	getma.org/pdb.php?prot=SCNNA_HUMAN&from=62&to=573&var=G470C	ENST00000228916		ENSG00000111319	10599		4	2.89		HGNC	p.G170C		SCNN1A		SNV			1				ENST00000540037	protein_coding	getma.org/?cm=var&var=hg19,12,6458524,C,A&fts=all		hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859		G/C		A	medium	1507/3135		getma.org/?cm=msa&ty=f&p=SCNNA_HUMAN&rb=62&re=573&var=G470C	deleterious(0.01)	F5GXE6_HUMAN				SCNN1A,missense_variant,p.Gly492Cys,ENST00000358945,;SCNN1A,missense_variant,p.Gly529Cys,ENST00000360168,NM_001159576.1;SCNN1A,missense_variant,p.Gly470Cys,ENST00000228916,NM_001038.5;SCNN1A,missense_variant,p.Gly170Cys,ENST00000540037,;SCNN1A,missense_variant,p.Gly493Cys,ENST00000543768,NM_001159575.1;SCNN1A,missense_variant,p.Gly470Cys,ENST00000396966,;RN7SL391P,downstream_gene_variant,,ENST00000582559,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000457871,;SCNN1A,downstream_gene_variant,,ENST00000366131,;SCNN1A,upstream_gene_variant,,ENST00000539953,;SCNN1A,3_prime_UTR_variant,,ENST00000338748,;							MODERATE	1408/2010	G470C	SCNNA_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000228916		CCDS8543.1			1	
ATP8A2	0	LGGM	GRCh37	13	26104734	26104734	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	6	2	.	.	ENST00000381655.2:c.356C>A	p.Thr119Asn	p.T119N	ENST00000381655	NM_016529.4	119	aCc/aAc	0	1	1	UPI0000229592	0	NA	ENST00000381655		ENSG00000132932	13533		8	3.675		HGNC	p.T79N		ATP8A2		SNV			1				ENST00000255283	protein_coding	getma.org/?cm=var&var=hg19,13,26104734,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Gene3D:2.70.150.10,Superfamily_domains:0049473		T/N		A	high	498/9575		getma.org/?cm=msa&ty=f&p=AT8A2_HUMAN&rb=1&re=82&var=T79N	deleterious(0)				YES	ATP8A2,missense_variant,p.Thr119Asn,ENST00000381655,NM_016529.4;ATP8A2,missense_variant,p.Thr79Asn,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000381648,;ATP8A2,5_prime_UTR_variant,,ENST00000281620,;							MODERATE	356/3567	T79N	AT8A2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000371070		CCDS41873.1			1	
PIN4	0	LGGM	GRCh37	X	71406368	71406368	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	3	2	.	.	ENST00000373669.2:c.176G>T	p.Gly59Val	p.G59V	ENST00000373669	NM_006223.3	59	gGt/gTt	0	1	1	UPI00002263A9	0	getma.org/pdb.php?prot=PIN4_HUMAN&from=22&to=131&var=G34V	ENST00000373669		ENSG00000102309	8992		5	0.71		HGNC	p.G59V		PIN4		SNV							ENST00000373669	protein_coding	getma.org/?cm=var&var=hg19,X,71406368,G,T&fts=all		Gene3D:3.10.50.40,Pfam_domain:PF13616,hmmpanther:PTHR10657		G/V		T	neutral	208/1321		getma.org/?cm=msa&ty=f&p=PIN4_HUMAN&rb=22&re=131&var=G34V	deleterious(0.02)	A8E0G8_HUMAN			YES	PIN4,missense_variant,p.Gly59Val,ENST00000218432,;PIN4,missense_variant,p.Gly59Val,ENST00000423432,NM_001170747.1;PIN4,missense_variant,p.Gly59Val,ENST00000373669,NM_006223.3;PIN4,missense_variant,p.Gly64Val,ENST00000446576,;PIN4,missense_variant,p.Gly41Val,ENST00000496835,;PIN4,missense_variant,p.Gly41Val,ENST00000439980,;PIN4,3_prime_UTR_variant,,ENST00000373662,;							MODERATE	176/471	G34V	PIN4_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000362773		CCDS14417.1			1	
PSTPIP1	0	LGGM	GRCh37	15	77324751	77324751	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	8	2	.	.	ENST00000558012.1:c.838+16C>A		*280*	ENST00000558012	NM_003978.3			0	1	1	UPI00000703D7	0		ENST00000558012		ENSG00000140368	9580		10			HGNC	p.A284E		PSTPIP1		SNV			1				ENST00000267939	protein_coding							A		-/1896							YES	PSTPIP1,missense_variant,p.Ala284Glu,ENST00000267939,;PSTPIP1,missense_variant,p.Ala285Glu,ENST00000559295,;PSTPIP1,intron_variant,,ENST00000558012,NM_003978.3;PSTPIP1,intron_variant,,ENST00000379595,;PSTPIP1,intron_variant,,ENST00000558870,;PSTPIP1,downstream_gene_variant,,ENST00000559161,;PSTPIP1,downstream_gene_variant,,ENST00000559856,;PSTPIP1,downstream_gene_variant,,ENST00000559859,;PSTPIP1,intron_variant,,ENST00000557995,;PSTPIP1,missense_variant,p.Ala350Glu,ENST00000559785,;PSTPIP1,non_coding_transcript_exon_variant,,ENST00000560377,;PSTPIP1,intron_variant,,ENST00000560223,;PSTPIP1,downstream_gene_variant,,ENST00000559750,;PSTPIP1,downstream_gene_variant,,ENST00000560796,;PSTPIP1,downstream_gene_variant,,ENST00000561315,;PSTPIP1,upstream_gene_variant,,ENST00000560064,;							MODIFIER	-/1251		PPIP1_HUMAN			Transcript			.	ENSP00000452746		CCDS45312.1			1	
SLC4A1	0	LGGM	GRCh37	17	42335985	42335985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	5	2	.	.	ENST00000262418.6:c.883C>T	p.Arg295Cys	p.R295C	ENST00000262418	NM_000342.3	295	Cgc/Tgc	0	1	1	UPI00000375B8	0	getma.org/pdb.php?prot=B3AT_HUMAN&from=86&to=329&var=R295C	ENST00000262418		ENSG00000004939	11027		7	1.15		HGNC	p.R295C	rs769465410	SLC4A1	8.88E-05	SNV			1				ENST00000262418	protein_coding	getma.org/?cm=var&var=hg19,17,42335985,G,A&fts=all		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834		R/C		A	low	1039/4965	3.20E-05	getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=86&re=329&var=R295C	tolerated(0.06)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN			YES	SLC4A1,missense_variant,p.Arg295Cys,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,;							MODERATE	883/2736	R295C	B3AT_HUMAN			Transcript		benign(0.27)	.	ENSP00000262418	2.51E-05	CCDS11481.1			1	
PHF13	0	LGGM	GRCh37	1	6680317	6680317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	7	2	.	.	ENST00000377648.4:c.596C>A	p.Thr199Asn	p.T199N	ENST00000377648	NM_153812.2	199	aCt/aAt	0	1	1	UPI000013C9BF	0	NA	ENST00000377648		ENSG00000116273	22983		9	1.845		HGNC	p.T199N		PHF13		SNV							ENST00000377648	protein_coding	getma.org/?cm=var&var=hg19,1,6680317,C,A&fts=all		hmmpanther:PTHR14571:SF10,hmmpanther:PTHR14571		T/N		A	low	978/3681		getma.org/?cm=msa&ty=f&p=PHF13_HUMAN&rb=1&re=200&var=T199N	deleterious(0.02)				YES	PHF13,missense_variant,p.Thr199Asn,ENST00000377648,NM_153812.2;THAP3,upstream_gene_variant,,ENST00000377627,NM_138350.3;THAP3,upstream_gene_variant,,ENST00000054650,NM_001195753.1;THAP3,upstream_gene_variant,,ENST00000307896,NM_001195752.1;THAP3,upstream_gene_variant,,ENST00000472925,;PHF13,intron_variant,,ENST00000495385,;THAP3,upstream_gene_variant,,ENST00000484676,;THAP3,upstream_gene_variant,,ENST00000484669,;THAP3,upstream_gene_variant,,ENST00000487819,;							MODERATE	596/903	T199N	PHF13_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000366876		CCDS85.1			1	
CDH15	0	LGGM	GRCh37	16	89256806	89256806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	6	2	.	.	ENST00000289746.2:c.1134C>A	p.Asn378Lys	p.N378K	ENST00000289746	NM_004933.2	378	aaC/aaA	0	1	1	UPI0000126DAF	0	getma.org/pdb.php?prot=CAD15_HUMAN&from=376&to=481&var=N378K	ENST00000289746		ENSG00000129910	1754		8	1.63		HGNC	p.N378K		CDH15		SNV			1				ENST00000289746	protein_coding	getma.org/?cm=var&var=hg19,16,89256806,C,A&fts=all		Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67,PROSITE_profiles:PS50268		N/K		A	low	1199/2847		getma.org/?cm=msa&ty=f&p=CAD15_HUMAN&rb=376&re=481&var=N378K	deleterious(0.01)				YES	CDH15,missense_variant,p.Asn378Lys,ENST00000289746,NM_004933.2;CDH15,downstream_gene_variant,,ENST00000524089,;							MODERATE	1134/2445	N378K	CAD15_HUMAN			Transcript		benign(0.128)	.	ENSP00000289746		CCDS10976.1			1	
WDR81	0	LGGM	GRCh37	17	1637451	1637451	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	9	2	.	.	ENST00000409644.1:c.5120A>G	p.Glu1707Gly	p.E1707G	ENST00000409644	NM_001163809.1	1707	gAg/gGg	0	1	1	UPI0001881A85	0	NA	ENST00000409644		ENSG00000167716	26600		11	2.36		HGNC	p.E346G		WDR81		SNV			1				ENST00000446363	protein_coding	getma.org/?cm=var&var=hg19,17,1637451,A,G&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314,PROSITE_profiles:PS50294		E/G		G	medium	5120/6733		getma.org/?cm=msa&ty=f&p=WDR81_HUMAN&rb=625&re=733&var=E656G	deleterious(0)	E9PDG3_HUMAN,C9JD20_HUMAN			YES	WDR81,missense_variant,p.Glu1707Gly,ENST00000409644,NM_001163809.1;WDR81,missense_variant,p.Glu656Gly,ENST00000309182,NM_152348.3;WDR81,missense_variant,p.Glu480Gly,ENST00000419248,NM_001163811.1;WDR81,missense_variant,p.Glu504Gly,ENST00000437219,NM_001163673.1;WDR81,missense_variant,p.Glu346Gly,ENST00000446363,;WDR81,missense_variant,p.Glu338Gly,ENST00000545662,;WDR81,downstream_gene_variant,,ENST00000575206,;WDR81,downstream_gene_variant,,ENST00000418841,;WDR81,downstream_gene_variant,,ENST00000455636,;WDR81,downstream_gene_variant,,ENST00000468539,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,downstream_gene_variant,,ENST00000479966,;WDR81,downstream_gene_variant,,ENST00000474958,;WDR81,downstream_gene_variant,,ENST00000495411,;WDR81,downstream_gene_variant,,ENST00000492901,;							MODERATE	5120/5826	E656G	WDR81_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000386609		CCDS54062.1			1	
B4GALNT1	0	LGGM	GRCh37	12	58020697	58020697	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	21	2	.	.	ENST00000341156.4:c.1432G>C	p.Asp478His	p.D478H	ENST00000341156	NM_001478.4	478	Gac/Cac	0	1	1	UPI0000126DD5	0	NA	ENST00000341156		ENSG00000135454	4117		23	1.24		HGNC	p.D478H		B4GALNT1		SNV			1				ENST00000341156	protein_coding	getma.org/?cm=var&var=hg19,12,58020697,C,G&fts=all		hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,Gene3D:3.90.550.10,PIRSF_domain:PIRSF000474,Superfamily_domains:SSF53448		D/H		G	low	2017/3036		getma.org/?cm=msa&ty=f&p=B4GN1_HUMAN&rb=450&re=533&var=D478H	deleterious(0.03)	F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN			YES	B4GALNT1,missense_variant,p.Asp478His,ENST00000341156,NM_001478.4;B4GALNT1,missense_variant,p.Asp423His,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,;							MODERATE	1432/1602	D478H	B4GN1_HUMAN			Transcript		benign(0.16)	.	ENSP00000341562		CCDS8950.1			1	
TFAP2D	0	LGGM	GRCh37	6	50683155	50683155	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	36	3	.	.	ENST00000008391.3:c.366C>A	p.Leu122=	p.L122=	ENST00000008391	NM_172238.3	122	ctC/ctA	0	1	1	UPI00001A3A89	0		ENST00000008391		ENSG00000008197	15581		39			HGNC	p.L122L		TFAP2D		SNV							ENST00000008391	protein_coding			hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF5		L		A		594/1711							YES	TFAP2D,synonymous_variant,p.=,ENST00000008391,NM_172238.3;TFAP2D,upstream_gene_variant,,ENST00000492804,;							LOW	366/1359		AP2D_HUMAN			Transcript			.	ENSP00000008391		CCDS4933.1			1	
GRM1	0	LGGM	GRCh37	6	146480537	146480537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	30	3	.	.	ENST00000361719.2:c.754G>T	p.Gly252Cys	p.G252C	ENST00000361719		252	Ggc/Tgc	0	1		UPI000013DCFD	0	getma.org/pdb.php?prot=GRM1_HUMAN&from=77&to=485&var=G252C	ENST00000282753		ENSG00000152822	4593		33	3.115		HGNC	p.G252C		GRM1		SNV			1				ENST00000392299	protein_coding	getma.org/?cm=var&var=hg19,6,146480537,G,T&fts=all		hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		G/C		T	medium	989/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=77&re=485&var=G252C	deleterious(0)					GRM1,missense_variant,p.Gly252Cys,ENST00000392299,;GRM1,missense_variant,p.Gly252Cys,ENST00000361719,;GRM1,missense_variant,p.Gly252Cys,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Gly252Cys,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Gly252Cys,ENST00000355289,;GRM1,missense_variant,p.Gly252Cys,ENST00000507907,;GRM1,non_coding_transcript_exon_variant,,ENST00000502405,;GRM1,non_coding_transcript_exon_variant,,ENST00000507005,;							MODERATE	754/3585	G252C	GRM1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000282753		CCDS5209.1			1	
OR5AP2	0	LGGM	GRCh37	11	56409778	56409778	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	44	3	.	.	ENST00000302981.1:c.138G>T	p.Val46=	p.V46=	ENST00000302981	NM_001002925.1	46	gtG/gtT	0	1	1	UPI0000061EE6	0		ENST00000302981		ENSG00000172464	15258		47			HGNC	p.V46V		OR5AP2		SNV							ENST00000302981	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF151,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V		A		138/951							YES	OR5AP2,synonymous_variant,p.=,ENST00000544374,;OR5AP2,synonymous_variant,p.=,ENST00000302981,NM_001002925.1;AP002517.1,downstream_gene_variant,,ENST00000584225,;							LOW	138/951		O5AP2_HUMAN			Transcript			.	ENSP00000303111		CCDS31534.1			1	
SLC2A8	0	LGGM	GRCh37	9	130167763	130167763	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	23	3	.	.	ENST00000373371.3:c.1215C>A	p.Val405=	p.V405=	ENST00000373371	NM_014580.4	405	gtC/gtA	0	1	1	UPI000003E7A8	0		ENST00000373371		ENSG00000136856	13812		26			HGNC	p.V142V		SLC2A8		SNV							ENST00000373352	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF49,hmmpanther:PTHR24063,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,Superfamily_domains:SSF103473,Prints_domain:PR00171		V		A		1304/2172				Q5VVW5_HUMAN,Q5VVV3_HUMAN			YES	SLC2A8,synonymous_variant,p.=,ENST00000373371,NM_014580.4;SLC2A8,synonymous_variant,p.=,ENST00000430147,;SLC2A8,synonymous_variant,p.=,ENST00000451404,NM_001271712.1;SLC2A8,synonymous_variant,p.=,ENST00000373352,;SLC2A8,intron_variant,,ENST00000373360,NM_001271711.1;SLC2A8,downstream_gene_variant,,ENST00000423934,;SLC2A8,downstream_gene_variant,,ENST00000439597,;SLC2A8,downstream_gene_variant,,ENST00000419917,;SLC2A8,downstream_gene_variant,,ENST00000419132,;SLC2A8,non_coding_transcript_exon_variant,,ENST00000477027,;SLC2A8,downstream_gene_variant,,ENST00000485806,;SLC2A8,downstream_gene_variant,,ENST00000489239,;SLC2A8,downstream_gene_variant,,ENST00000484617,;SLC2A8,upstream_gene_variant,,ENST00000484208,;							LOW	1215/1434		GTR8_HUMAN			Transcript			.	ENSP00000362469		CCDS6870.1			1	
MYH1	0	LGGM	GRCh37	17	10399641	10399641	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	45	3	.	.	ENST00000226207.5:c.4882G>A	p.Glu1628Lys	p.E1628K	ENST00000226207	NM_005963.3	1628	Gaa/Aaa	0	1	1	UPI000013C891	0	NA	ENST00000226207		ENSG00000109061	7567		48	3.04		HGNC	p.E1628K	COSM3513813	MYH1		SNV						1	ENST00000226207	protein_coding	getma.org/?cm=var&var=hg19,17,10399641,C,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264		E/K		T	medium	4977/6024		getma.org/?cm=msa&ty=f&p=MYH1_HUMAN&rb=1072&re=1930&var=E1628K	deleterious(0.02)				YES	MYH1,missense_variant,p.Glu1628Lys,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;					1		MODERATE	4882/5820	E1628K	MYH1_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000226207		CCDS11155.1			1	
RAPGEF1	0	LGGM	GRCh37	9	134455662	134455662	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	24	3	.	.	ENST00000372190.3:c.3125G>T	p.Cys1042Phe	p.C1042F	ENST00000372190	NM_198679.1	1042	tGc/tTc	0	1		UPI000021FB80	0	getma.org/pdb.php?prot=RPGF1_HUMAN&from=840&to=1064&var=C1024F	ENST00000372189		ENSG00000107263	4568		27	0.975		HGNC	p.C970F		RAPGEF1		SNV							ENST00000429421	protein_coding	getma.org/?cm=var&var=hg19,9,134455662,C,A&fts=all		Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40,PROSITE_profiles:PS50009		C/F		A	low	3195/6085		getma.org/?cm=msa&ty=f&p=RPGF1_HUMAN&rb=840&re=1064&var=C1024F	deleterious(0.03)					RAPGEF1,missense_variant,p.Cys1041Phe,ENST00000372195,;RAPGEF1,missense_variant,p.Cys1042Phe,ENST00000372190,NM_198679.1;RAPGEF1,missense_variant,p.Cys1024Phe,ENST00000372189,NM_005312.2;							MODERATE	3071/3234	C1024F	RPGF1_HUMAN			Transcript		benign(0.065)	.	ENSP00000361263		CCDS48047.1			1	
GMEB1	0	LGGM	GRCh37	1	29041118	29041118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	43	3	.	.	ENST00000294409.2:c.1555C>A	p.Gln519Lys	p.Q519K	ENST00000294409	NM_006582.3	519	Cag/Aag	0	1	1	UPI000012B8AB	0	NA	ENST00000294409		ENSG00000162419	4370		46	1.245		HGNC	p.Q509K		GMEB1		SNV							ENST00000361872	protein_coding	getma.org/?cm=var&var=hg19,1,29041118,C,A&fts=all		hmmpanther:PTHR10417,hmmpanther:PTHR10417:SF3		Q/K		A	low	1645/1912		getma.org/?cm=msa&ty=f&p=GMEB1_HUMAN&rb=361&re=529&var=Q519K	tolerated(0.21)				YES	GMEB1,missense_variant,p.Gln509Lys,ENST00000373816,NM_024482.2;GMEB1,missense_variant,p.Gln519Lys,ENST00000294409,NM_006582.3;GMEB1,missense_variant,p.Gln509Lys,ENST00000361872,;GMEB1,non_coding_transcript_exon_variant,,ENST00000480454,;							MODERATE	1555/1722	Q519K	GMEB1_HUMAN			Transcript		benign(0.104)	.	ENSP00000294409		CCDS327.1			1	
HYAL4	0	LGGM	GRCh37	7	123514894	123514894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	42	3	.	.	ENST00000223026.4:c.1034C>A	p.Thr345Asn	p.T345N	ENST00000223026	NM_012269.2	345	aCt/aAt	0	1	1	UPI000006F62B	0	getma.org/pdb.php?prot=HYAL4_HUMAN&from=37&to=374&var=T345N	ENST00000223026		ENSG00000106302	5323		45	2.675		HGNC	p.T345N		HYAL4		SNV							ENST00000223026	protein_coding	getma.org/?cm=var&var=hg19,7,123514894,C,A&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7,Superfamily_domains:SSF51445		T/N		A	medium	1672/2407		getma.org/?cm=msa&ty=f&p=HYAL4_HUMAN&rb=37&re=374&var=T345N	deleterious(0.01)	C9JU18_HUMAN,C9J6F9_HUMAN			YES	HYAL4,missense_variant,p.Thr345Asn,ENST00000223026,NM_012269.2;HYAL4,missense_variant,p.Thr345Asn,ENST00000476325,;HYAL4,missense_variant,p.Thr345Asn,ENST00000483878,;							MODERATE	1034/1446	T345N	HYAL4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000223026		CCDS5789.1			1	
UCKL1	0	LGGM	GRCh37	20	62571350	62571350	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	3	.	.	ENST00000354216.6:c.1626G>T	p.Glu542Asp	p.E542D	ENST00000354216	NM_017859.3	542	gaG/gaT	0	1	1	UPI000004A08C	0	NA	ENST00000354216		ENSG00000198276	15938		18	-1.175		HGNC	p.E542D		UCKL1		SNV							ENST00000369892	protein_coding	getma.org/?cm=var&var=hg19,20,62571350,C,A&fts=all				E/D		A	neutral	1669/1833		getma.org/?cm=msa&ty=f&p=UCKL1_HUMAN&rb=489&re=548&var=E542D	tolerated_low_confidence(0.41)	Q5JWV1_HUMAN			YES	UCKL1,missense_variant,p.Glu527Asp,ENST00000369908,NM_001193379.1;UCKL1,missense_variant,p.Glu542Asp,ENST00000354216,NM_017859.3;UCKL1,missense_variant,p.Glu542Asp,ENST00000369892,;UCKL1,3_prime_UTR_variant,,ENST00000358711,;DNAJC5,downstream_gene_variant,,ENST00000360864,NM_025219.2;UCKL1,downstream_gene_variant,,ENST00000430743,;MIR647,downstream_gene_variant,,ENST00000384823,;MIR1914,downstream_gene_variant,,ENST00000607800,;DNAJC5,downstream_gene_variant,,ENST00000470551,;							MODERATE	1626/1647	E542D	UCKL1_HUMAN			Transcript		benign(0.002)	.	ENSP00000346155		CCDS13547.1			1	
GGPS1	0	LGGM	GRCh37	1	235505831	235505831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	44	3	.	.	ENST00000282841.5:c.647C>A	p.Pro216His	p.P216H	ENST00000282841		216	cCt/cAt	0	1	1	UPI000012B3FB	0	getma.org/pdb.php?prot=GGPPS_HUMAN&from=12&to=265&var=P216H	ENST00000282841		ENSG00000152904	4249		47	3.96		HGNC	p.P216H		GGPS1		SNV							ENST00000488594	protein_coding	getma.org/?cm=var&var=hg19,1,235505831,C,A&fts=all		hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF44,Pfam_domain:PF00348,Gene3D:1.10.600.10,Superfamily_domains:SSF48576		P/H		A	high	879/2895		getma.org/?cm=msa&ty=f&p=GGPPS_HUMAN&rb=12&re=265&var=P216H	deleterious(0)	C9J7M1_HUMAN,C9J6G3_HUMAN,A8MVQ8_HUMAN			YES	GGPS1,missense_variant,p.Pro216His,ENST00000282841,;GGPS1,missense_variant,p.Pro216His,ENST00000358966,NM_001037277.1;GGPS1,missense_variant,p.Pro216His,ENST00000476121,;GGPS1,missense_variant,p.Pro162His,ENST00000391855,;GGPS1,missense_variant,p.Pro216His,ENST00000488594,;GGPS1,missense_variant,p.Pro216His,ENST00000497327,;GGPS1,missense_variant,p.Pro216His,ENST00000471812,;							MODERATE	647/903	P216H	GGPPS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000282841		CCDS1604.1			1	
THRAP3	0	LGGM	GRCh37	1	36752800	36752800	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	25	3	.	.	ENST00000354618.5:c.969C>A	p.Ser323=	p.S323=	ENST00000354618	NM_005119.3	323	tcC/tcA	0	1	1	UPI0000203F28	0		ENST00000354618		ENSG00000054118	22964		28			HGNC	p.S323S		THRAP3		SNV							ENST00000469141	protein_coding			Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF16,Low_complexity_(Seg):seg		S		A		1193/4432				E9PML1_HUMAN			YES	THRAP3,synonymous_variant,p.=,ENST00000354618,NM_005119.3;THRAP3,synonymous_variant,p.=,ENST00000469141,;THRAP3,downstream_gene_variant,,ENST00000478853,;THRAP3,upstream_gene_variant,,ENST00000466743,;							LOW	969/2868		TR150_HUMAN			Transcript			.	ENSP00000346634		CCDS405.1			1	
AKR1B1	0	LGGM	GRCh37	7	134129990	134129990	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	21	3	.	.	ENST00000285930.4:c.908G>T	p.Ser303Ile	p.S303I	ENST00000285930	NM_001628.2	303	aGc/aTc	0	1	1	UPI000000D78E	0	getma.org/pdb.php?prot=ALDR_HUMAN&from=295&to=316&var=S303I	ENST00000285930		ENSG00000085662	381		24	1.59		HGNC	p.S303I		AKR1B1		SNV							ENST00000285930	protein_coding	getma.org/?cm=var&var=hg19,7,134129990,C,A&fts=all		Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF189,Superfamily_domains:SSF51430		S/I		A	low	988/1409		getma.org/?cm=msa&ty=f&p=ALDR_HUMAN&rb=265&re=316&var=S303I	tolerated(0.23)	O15289_HUMAN			YES	AKR1B1,missense_variant,p.Ser303Ile,ENST00000285930,NM_001628.2;AKR1B1,downstream_gene_variant,,ENST00000489022,;AKR1B1,downstream_gene_variant,,ENST00000487438,;AKR1B1,downstream_gene_variant,,ENST00000497983,;AKR1B1,splice_region_variant,,ENST00000465351,;AKR1B1,splice_region_variant,,ENST00000434222,;AKR1B1,non_coding_transcript_exon_variant,,ENST00000467251,;AKR1B1,downstream_gene_variant,,ENST00000491741,;AKR1B1,downstream_gene_variant,,ENST00000498771,;AKR1B1,downstream_gene_variant,,ENST00000484592,;AKR1B1,downstream_gene_variant,,ENST00000467829,;AKR1B1,downstream_gene_variant,,ENST00000498373,;AKR1B1,downstream_gene_variant,,ENST00000426422,;							MODERATE	908/951	S303I	ALDR_HUMAN			Transcript		benign(0.004)	.	ENSP00000285930		CCDS5831.1			1	
FAM20A	0	LGGM	GRCh37	17	66548030	66548032	+	inframe_deletion	In_Frame_Del	DEL	TGG	TGG	-	novel	by Submitter	H090745	H090745N.bam	TGG	TGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	7	3	.	.	ENST00000592554.1:c.701_703del	p.Ala234_Met235delinsVal	p.A234_M235delinsV	ENST00000592554	NM_001243746.1	234	gCCAtg/gtg	0	1	1	UPI00001AE65B	0		ENST00000592554		ENSG00000108950	23015		10			HGNC	p.234_235del		FAM20A		deletion			1				ENST00000592554	protein_coding			hmmpanther:PTHR12450:SF12,hmmpanther:PTHR12450		AM/V		-		1424-1426/2955				L8B8N7_HUMAN			YES	FAM20A,inframe_deletion,p.Ala234_Met235delinsVal,ENST00000592554,NM_001243746.1,NM_017565.3;PRKAR1A,downstream_gene_variant,,ENST00000588188,NM_001276290.1;FAM20A,non_coding_transcript_exon_variant,,ENST00000226094,;FAM20A,non_coding_transcript_exon_variant,,ENST00000592847,;FAM20A,3_prime_UTR_variant,,ENST00000590074,;							MODERATE	701-703/1626		FA20A_HUMAN			Transcript			.	ENSP00000468308		CCDS11679.1			1	
ZNF804A	0	LGGM	GRCh37	2	185800962	185800962	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	46	3	.	.	ENST00000302277.6:c.839C>A	p.Pro280Gln	p.P280Q	ENST00000302277	NM_194250.1	280	cCa/cAa	0	1	1	UPI00001B4B18	0	NA	ENST00000302277		ENSG00000170396	21711		49	1.5		HGNC	p.P280Q		ZNF804A		SNV							ENST00000302277	protein_coding	getma.org/?cm=var&var=hg19,2,185800962,C,A&fts=all		hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614		P/Q		A	low	1433/4690		getma.org/?cm=msa&ty=f&p=Z804A_HUMAN&rb=85&re=284&var=P280Q	deleterious(0.05)				YES	ZNF804A,missense_variant,p.Pro280Gln,ENST00000302277,NM_194250.1;							MODERATE	839/3630	P280Q	Z804A_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000303252		CCDS2291.1			1	
CNTROB	0	LGGM	GRCh37	17	7839749	7839749	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	39	3	.	.	ENST00000380262.3:c.660G>T	p.Val220=	p.V220=	ENST00000380262	NM_001037144.5	220	gtG/gtT	0	1		UPI0000072872	0		ENST00000563694		ENSG00000170037	29616		42			HGNC	p.V122V		CNTROB		SNV							ENST00000575408	protein_coding			Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		V		T		1585/3705				I3L465_HUMAN,I3L1Z8_HUMAN,I3L1B0_HUMAN				CNTROB,synonymous_variant,p.=,ENST00000380262,NM_001037144.5;CNTROB,synonymous_variant,p.=,ENST00000563694,NM_053051.3;CNTROB,synonymous_variant,p.=,ENST00000380255,;CNTROB,synonymous_variant,p.=,ENST00000565740,;CNTROB,synonymous_variant,p.=,ENST00000575408,;TRAPPC1,upstream_gene_variant,,ENST00000303731,NM_021210.4;CNTROB,downstream_gene_variant,,ENST00000576538,;TRAPPC1,upstream_gene_variant,,ENST00000540486,NM_001166621.1;CNTROB,downstream_gene_variant,,ENST00000570782,;CNTROB,downstream_gene_variant,,ENST00000570784,;TRAPPC1,upstream_gene_variant,,ENST00000572656,;TRAPPC1,upstream_gene_variant,,ENST00000571947,;CNTROB,3_prime_UTR_variant,,ENST00000571632,;CNTROB,3_prime_UTR_variant,,ENST00000571540,;CNTROB,non_coding_transcript_exon_variant,,ENST00000576587,;CNTROB,upstream_gene_variant,,ENST00000576723,;CNTROB,upstream_gene_variant,,ENST00000576922,;CNTROB,upstream_gene_variant,,ENST00000574430,;TRAPPC1,upstream_gene_variant,,ENST00000571739,;TRAPPC1,upstream_gene_variant,,ENST00000575639,;TRAPPC1,upstream_gene_variant,,ENST00000573989,;							LOW	660/2712		CNTRB_HUMAN			Transcript			.	ENSP00000456335		CCDS11126.1			1	
MGME1	0	LGGM	GRCh37	20	17950675	17950675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	37	3	.	.	ENST00000377710.5:c.173C>A	p.Ser58Tyr	p.S58Y	ENST00000377710	NM_052865.2	58	tCt/tAt	0	1	1	UPI00001285E8	0	NA	ENST00000377710		ENSG00000125871	16205		40	2.095		HGNC	p.S58Y		MGME1		SNV			1				ENST00000377704	protein_coding	getma.org/?cm=var&var=hg19,20,17950675,C,A&fts=all		hmmpanther:PTHR31340:SF3,hmmpanther:PTHR31340		S/Y		A	medium	461/2336		getma.org/?cm=msa&ty=f&p=CT072_HUMAN&rb=1&re=148&var=S58Y	tolerated(0.05)				YES	MGME1,missense_variant,p.Ser58Tyr,ENST00000377710,NM_052865.2;MGME1,missense_variant,p.Ser58Tyr,ENST00000377709,;MGME1,missense_variant,p.Ser58Tyr,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,;MGME1,non_coding_transcript_exon_variant,,ENST00000463219,;OVOL2,intron_variant,,ENST00000486776,;SNX5,upstream_gene_variant,,ENST00000490175,;MGME1,upstream_gene_variant,,ENST00000467391,;SNX5,upstream_gene_variant,,ENST00000469704,;SNX5,upstream_gene_variant,,ENST00000474883,;							MODERATE	173/1035	S58Y	MGME1_HUMAN			Transcript		possibly_damaging(0.496)	.	ENSP00000366939		CCDS13131.1			1	
RALB	0	LGGM	GRCh37	2	121036326	121036326	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	40	3	.	.	ENST00000272519.5:c.86C>A	p.Ala29Asp	p.A29D	ENST00000272519	NM_002881.2	29	gCc/gAc	0	1	1	UPI000000124F	0	getma.org/pdb.php?prot=RALB_HUMAN&from=16&to=178&var=A29D	ENST00000272519		ENSG00000144118	9840		43	4.08		HGNC	p.A29D		RALB		SNV							ENST00000420510	protein_coding	getma.org/?cm=var&var=hg19,2,121036326,C,A&fts=all		PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF199,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540,Prints_domain:PR00449		A/D		A	high	356/2344		getma.org/?cm=msa&ty=f&p=RALB_HUMAN&rb=16&re=178&var=A29D	deleterious(0)	C9JYR1_HUMAN,C9J6B1_HUMAN			YES	RALB,missense_variant,p.Ala29Asp,ENST00000272519,NM_002881.2;RALB,missense_variant,p.Ala29Asp,ENST00000404963,;RALB,missense_variant,p.Ala51Asp,ENST00000474855,;RALB,missense_variant,p.Ala29Asp,ENST00000420510,;RALB,missense_variant,p.Ala29Asp,ENST00000412383,;RALB,missense_variant,p.Ala29Asp,ENST00000449649,;RALB,missense_variant,p.Ala51Asp,ENST00000447591,;RALB,intron_variant,,ENST00000470417,;RALB,missense_variant,p.Ala29Asp,ENST00000431732,;							MODERATE	86/621	A29D	RALB_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000272519		CCDS2131.1			1	
KIAA0247	0	LGGM	GRCh37	14	70175699	70175699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	34	3	.	.	ENST00000342745.4:c.764C>A	p.Ala255Glu	p.A255E	ENST00000342745	NM_014734.3	255	gCa/gAa	0	1	1	UPI00001394F6	0	NA	ENST00000342745		ENSG00000100647	19956		37	1.87		HGNC	p.A255E		KIAA0247		SNV							ENST00000342745	protein_coding	getma.org/?cm=var&var=hg19,14,70175699,C,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF6		A/E		A	low	1077/5388		getma.org/?cm=msa&ty=f&p=K0247_HUMAN&rb=103&re=302&var=A255E	deleterious(0.04)				YES	KIAA0247,missense_variant,p.Ala255Glu,ENST00000342745,NM_014734.3;							MODERATE	764/912	A255E	K0247_HUMAN			Transcript		benign(0.339)	.	ENSP00000344424		CCDS9796.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84651756	84651756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	25	3	.	.	ENST00000286744.5:c.3376G>T	p.Ala1126Ser	p.A1126S	ENST00000286744	NM_207517.2	1126	Gcc/Tcc	0	1	1	UPI00001615A5	0	getma.org/pdb.php?prot=ATL3_HUMAN&from=997&to=1196&var=A1126S	ENST00000286744		ENSG00000156218	14633		28	1.995		HGNC	p.A1126S		ADAMTSL3		SNV							ENST00000567476	protein_coding	getma.org/?cm=var&var=hg19,15,84651756,G,T&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169		A/S		T	medium	3600/7336		getma.org/?cm=msa&ty=f&p=ATL3_HUMAN&rb=997&re=1196&var=A1126S	tolerated(0.28)				YES	ADAMTSL3,missense_variant,p.Ala1126Ser,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Ala1126Ser,ENST00000567476,;ADAMTSL3,downstream_gene_variant,,ENST00000567716,;ADAMTSL3,downstream_gene_variant,,ENST00000562296,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;							MODERATE	3376/5076	A1126S	ATL3_HUMAN			Transcript		possibly_damaging(0.611)	.	ENSP00000286744		CCDS10326.1			1	
VAC14	0	LGGM	GRCh37	16	70765414	70765414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	19	3	.	.	ENST00000261776.5:c.1645G>T	p.Gly549Cys	p.G549C	ENST00000261776	NM_018052.3	549	Ggc/Tgc	0	1	1	UPI00001A832B	0	NA	ENST00000261776		ENSG00000103043	25507		22	2.87		HGNC	p.G549C		VAC14		SNV							ENST00000261776	protein_coding	getma.org/?cm=var&var=hg19,16,70765414,C,A&fts=all		hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023,Pfam_domain:PF11916,Superfamily_domains:SSF48371		G/C		A	medium	1906/3099		getma.org/?cm=msa&ty=f&p=VAC14_HUMAN&rb=541&re=721&var=G549C	deleterious(0.02)	Q9NTB8_HUMAN,B3KSM8_HUMAN			YES	VAC14,missense_variant,p.Gly549Cys,ENST00000261776,NM_018052.3;VAC14,missense_variant,p.Gly93Cys,ENST00000566416,;VAC14,non_coding_transcript_exon_variant,,ENST00000561879,;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,3_prime_UTR_variant,,ENST00000568886,;VAC14,non_coding_transcript_exon_variant,,ENST00000564685,;VAC14,non_coding_transcript_exon_variant,,ENST00000563662,;							MODERATE	1645/2349	G549C	VAC14_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000261776		CCDS10896.1			1	
MMP9	0	LGGM	GRCh37	20	44640943	44640943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	3	.	.	ENST00000372330.3:c.1165C>A	p.Pro389Thr	p.P389T	ENST00000372330	NM_004994.2	389	Ccg/Acg	0	1	1	UPI000013C712	0	getma.org/pdb.php?prot=MMP9_HUMAN&from=115&to=444&var=P389T	ENST00000372330		ENSG00000100985	7176		18	2.495		HGNC	p.P389T		MMP9		SNV			1				ENST00000372330	protein_coding	getma.org/?cm=var&var=hg19,20,44640943,C,A&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF00413,PROSITE_profiles:PS51092,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF30,SMART_domains:SM00235,Superfamily_domains:SSF55486,Superfamily_domains:SSF57440		P/T		A	medium	1184/2336		getma.org/?cm=msa&ty=f&p=MMP9_HUMAN&rb=115&re=444&var=P389T	deleterious(0.03)				YES	MMP9,missense_variant,p.Pro389Thr,ENST00000372330,NM_004994.2;RP11-465L10.10,downstream_gene_variant,,ENST00000535913,;AL162458.1,upstream_gene_variant,,ENST00000366171,;							MODERATE	1165/2124	P389T	MMP9_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000361405		CCDS13390.1			1	
ADCY5	0	LGGM	GRCh37	3	123008665	123008665	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	39	3	.	.	ENST00000462833.1:c.3464C>T	p.Ala1155Val	p.A1155V	ENST00000462833	NM_183357.2	1155	gCc/gTc	0	1	1	UPI000015E262	0	getma.org/pdb.php?prot=ADCY5_HUMAN&from=1062&to=1256&var=A1155V	ENST00000462833		ENSG00000173175	236		42	3.2		HGNC	p.A813V		ADCY5		SNV			1				ENST00000491190	protein_coding	getma.org/?cm=var&var=hg19,3,123008665,G,A&fts=all		Superfamily_domains:SSF55073,SMART_domains:SM00044,Pfam_domain:PF00211,Gene3D:3.30.70.1230,hmmpanther:PTHR11920:SF259,hmmpanther:PTHR11920,PROSITE_profiles:PS50125		A/V		A	medium	4677/7311		getma.org/?cm=msa&ty=f&p=ADCY5_HUMAN&rb=1062&re=1256&var=A1155V	tolerated(0.09)	C9JRT8_HUMAN,C9JQ38_HUMAN,B7Z801_HUMAN,B7Z2C7_HUMAN			YES	ADCY5,missense_variant,p.Ala1155Val,ENST00000462833,NM_183357.2;ADCY5,missense_variant,p.Ala813Val,ENST00000491190,;ADCY5,missense_variant,p.Ala805Val,ENST00000309879,NM_001199642.1;ADCY5,upstream_gene_variant,,ENST00000478092,;							MODERATE	3464/3786	A1155V	ADCY5_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000419361		CCDS3022.1			1	
SELE	0	LGGM	GRCh37	1	169697037	169697037	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	46	3	.	.	ENST00000333360.7:c.1311G>T	p.Pro437=	p.P437=	ENST00000333360	NM_000450.2	437	ccG/ccT	0	1	1	UPI000012E44A	0		ENST00000333360		ENSG00000007908	10718		49			HGNC	p.P437P	rs144324234	SELE		SNV	T:0						ENST00000333360	protein_coding		T:0	Gene3D:2.10.70.10,Pfam_domain:PF00084,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF336,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535		P	T:0.0005	A		1451/3857					T:0.0029	T:0	YES	SELE,synonymous_variant,p.=,ENST00000333360,NM_000450.2;SELE,synonymous_variant,p.=,ENST00000367781,;SELE,synonymous_variant,p.=,ENST00000367776,;SELE,synonymous_variant,p.=,ENST00000367780,;SELE,synonymous_variant,p.=,ENST00000367775,;SELE,intron_variant,,ENST00000367782,;SELE,intron_variant,,ENST00000367777,;SELE,intron_variant,,ENST00000367779,;SELE,intron_variant,,ENST00000367774,;C1orf112,intron_variant,,ENST00000498289,;SELE,downstream_gene_variant,,ENST00000461085,;	0.000463	T:0.0004					LOW	1311/1833		LYAM2_HUMAN		T:0	Transcript			common_variant	ENSP00000331736	3.29E-05	CCDS1283.1		T:0	1	
PTPRO	0	LGGM	GRCh37	12	15731808	15731808	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	3	.	.	ENST00000281171.4:c.2851G>T	p.Asp951Tyr	p.D951Y	ENST00000281171	NM_030667.2	951	Gat/Tat	0	1	1	UPI000013DC62	0	getma.org/pdb.php?prot=PTPRO_HUMAN&from=938&to=1195&var=D951Y	ENST00000281171		ENSG00000151490	9678		18	3.29		HGNC	p.D951Y		PTPRO		SNV			1				ENST00000281171	protein_coding	getma.org/?cm=var&var=hg19,12,15731808,G,T&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		D/Y		T	medium	3181/5301		getma.org/?cm=msa&ty=f&p=PTPRO_HUMAN&rb=938&re=1195&var=D951Y	deleterious(0)	B4DS16_HUMAN			YES	PTPRO,missense_variant,p.Asp951Tyr,ENST00000281171,NM_030667.2;PTPRO,missense_variant,p.Asp923Tyr,ENST00000348962,NM_002848.3;PTPRO,missense_variant,p.Asp140Tyr,ENST00000445537,NM_030671.2;PTPRO,missense_variant,p.Asp112Tyr,ENST00000544244,NM_030670.2;PTPRO,missense_variant,p.Asp140Tyr,ENST00000442921,NM_030669.2;PTPRO,missense_variant,p.Asp112Tyr,ENST00000542557,NM_030668.2;PTPRO,upstream_gene_variant,,ENST00000535322,;PTPRO,3_prime_UTR_variant,,ENST00000535311,;PTPRO,non_coding_transcript_exon_variant,,ENST00000538907,;							MODERATE	2851/3651	D951Y	PTPRO_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000281171		CCDS8675.1			1	
NLRC5	0	LGGM	GRCh37	16	57073734	57073734	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	39	3	.	.	ENST00000262510.6:c.2843C>G	p.Pro948Arg	p.P948R	ENST00000262510	NM_032206.4	948	cCa/cGa	0	1	1	UPI00001AEE94	0	NA	ENST00000262510		ENSG00000140853	29933		42	1.39		HGNC	p.P455R		NLRC5		SNV							ENST00000538110	protein_coding	getma.org/?cm=var&var=hg19,16,57073734,C,G&fts=all		hmmpanther:PTHR24106:SF69,hmmpanther:PTHR24106		P/R		G	low	3068/6822		getma.org/?cm=msa&ty=f&p=NLRC5_HUMAN&rb=893&re=1000&var=P948R	tolerated(0.68)	F5H274_HUMAN,F5GYP0_HUMAN			YES	NLRC5,missense_variant,p.Pro948Arg,ENST00000436936,;NLRC5,missense_variant,p.Pro948Arg,ENST00000262510,NM_032206.4;NLRC5,missense_variant,p.Pro948Arg,ENST00000308149,;NLRC5,missense_variant,p.Pro948Arg,ENST00000539144,;NLRC5,missense_variant,p.Pro701Arg,ENST00000538805,;NLRC5,missense_variant,p.Pro455Arg,ENST00000538110,;NLRC5,missense_variant,p.Pro247Arg,ENST00000543030,;NLRC5,missense_variant,p.Pro676Arg,ENST00000545081,;NLRC5,missense_variant,p.Pro99Arg,ENST00000538453,;NLRC5,3_prime_UTR_variant,,ENST00000539881,;NLRC5,upstream_gene_variant,,ENST00000540182,;NLRC5,upstream_gene_variant,,ENST00000537056,;NLRC5,upstream_gene_variant,,ENST00000538930,;NLRC5,upstream_gene_variant,,ENST00000538778,;NLRC5,upstream_gene_variant,,ENST00000541020,;							MODERATE	2843/5601	P948R	NLRC5_HUMAN			Transcript		benign(0.003)	.	ENSP00000262510		CCDS10773.1			1	
MRC1L1	0	LGGM	GRCh37	10	17882784	17882784	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	17	3	.	.	ENST00000331429.2:c.895C>A	p.Arg299=	p.R299=	ENST00000331429		299	Cga/Aga	0	1	1	UPI00001AFE88	0		ENST00000331429		ENSG00000183748			20			Clone_based_vega_gene	p.R299R		MRC1L1		SNV							ENST00000457317	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF55,SMART_domains:SM00034,Superfamily_domains:SSF56436		R		A		998/5171				B4DLK9_HUMAN			YES	MRC1L1,synonymous_variant,p.=,ENST00000331429,;MRC1L1,synonymous_variant,p.=,ENST00000457317,;MIR511-1,upstream_gene_variant,,ENST00000385202,;							LOW	895/4371					Transcript			.	ENSP00000332124					1	
ALDH1B1	0	LGGM	GRCh37	9	38396064	38396064	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	47	3	.	.	ENST00000377698.3:c.319C>A	p.Arg107Ser	p.R107S	ENST00000377698	NM_000692.4	107	Cgc/Agc	0	1	1	UPI0000073000	0	getma.org/pdb.php?prot=AL1B1_HUMAN&from=45&to=508&var=L107S	ENST00000377698		ENSG00000137124	407		50	-0.49		HGNC	p.R107S		ALDH1B1		SNV							ENST00000377698	protein_coding	getma.org/?cm=var&var=hg19,9,38396064,C,A&fts=all		Superfamily_domains:SSF53720,Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF123		R/S		A	neutral	472/3066		getma.org/?cm=msa&ty=f&p=AL1B1_HUMAN&rb=45&re=508&var=L107S	deleterious(0.02)	B4DLJ0_HUMAN			YES	ALDH1B1,missense_variant,p.Arg107Ser,ENST00000377698,NM_000692.4;							MODERATE	319/1554	L107S	AL1B1_HUMAN			Transcript		benign(0.311)	.	ENSP00000366927		CCDS6615.1			1	
THAP8	0	LGGM	GRCh37	19	36530950	36530950	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	6	3	.	.	ENST00000292894.1:c.172T>C	p.Cys58Arg	p.C58R	ENST00000292894	NM_152658.2	58	Tgc/Cgc	0	1	1	UPI000006ED6C	0	getma.org/pdb.php?prot=THAP8_HUMAN&from=3&to=91&var=C58R	ENST00000292894		ENSG00000161277	23191		9	3.82		HGNC	p.C58R		THAP8		SNV							ENST00000392182	protein_coding	getma.org/?cm=var&var=hg19,19,36530950,A,G&fts=all		PROSITE_profiles:PS50950,hmmpanther:PTHR23080:SF13,hmmpanther:PTHR23080,Pfam_domain:PF05485,SMART_domains:SM00692,SMART_domains:SM00980,Superfamily_domains:SSF57716		C/R		G	high	717/1825		getma.org/?cm=msa&ty=f&p=THAP8_HUMAN&rb=3&re=91&var=C58R	deleterious(0.04)	B4DMU1_HUMAN,B4DKM9_HUMAN			YES	THAP8,missense_variant,p.Cys58Arg,ENST00000292894,NM_152658.2;THAP8,intron_variant,,ENST00000538849,;AC002116.7,intron_variant,,ENST00000586962,;THAP8,non_coding_transcript_exon_variant,,ENST00000524106,;THAP8,3_prime_UTR_variant,,ENST00000607730,;THAP8,intron_variant,,ENST00000522483,;							MODERATE	172/825	C58R	THAP8_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000292894		CCDS33000.1			1	
RAG1	0	LGGM	GRCh37	11	36595782	36595782	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	39	3	.	.	ENST00000299440.5:c.928C>A	p.His310Asn	p.H310N	ENST00000299440	NM_000448.2	310	Cat/Aat	0	1	1	UPI000013E5A0	0	getma.org/pdb.php?prot=RAG1_HUMAN&from=289&to=333&var=H310N	ENST00000299440		ENSG00000166349	9831		42	3.465		HGNC	p.H310N		RAG1		SNV			1				ENST00000299440	protein_coding	getma.org/?cm=var&var=hg19,11,36595782,C,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00097,PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0,SMART_domains:SM00184,Superfamily_domains:SSF57850		H/N		A	medium	1040/6564		getma.org/?cm=msa&ty=f&p=RAG1_HUMAN&rb=289&re=333&var=H310N	deleterious_low_confidence(0)				YES	RAG1,missense_variant,p.His310Asn,ENST00000299440,NM_000448.2;RAG2,downstream_gene_variant,,ENST00000524423,;RAG1,missense_variant,p.His310Asn,ENST00000534663,;							MODERATE	928/3132	H310N	RAG1_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000299440		CCDS7902.1			1	
CLDN16	0	LGGM	GRCh37	3	190127716	190127716	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	33	3	.	.	ENST00000264734.2:c.809C>A	p.Pro270His	p.P270H	ENST00000264734	NM_006580.3	270	cCt/cAt	0	1	1	UPI0000127AB8	0	NA	ENST00000264734		ENSG00000113946	2037		36	1.7		HGNC	p.P270H		CLDN16		SNV			1				ENST00000264734	protein_coding	getma.org/?cm=var&var=hg19,3,190127716,C,A&fts=all		hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF56		P/H		A	low	1057/3273		getma.org/?cm=msa&ty=f&p=CLD16_HUMAN&rb=254&re=305&var=P270H	deleterious(0)				YES	CLDN16,missense_variant,p.Pro270His,ENST00000264734,NM_006580.3;CLDN16,missense_variant,p.Leu117Ile,ENST00000456423,;CLDN16,downstream_gene_variant,,ENST00000468220,;							MODERATE	809/918	P270H	CLD16_HUMAN			Transcript		possibly_damaging(0.625)	.	ENSP00000264734		CCDS3296.1			1	
SERINC4	0	LGGM	GRCh37	15	44089547	44089547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	4	3	.	.	ENST00000319327.6:c.640G>T	p.Gly214Cys	p.G214C	ENST00000319327	NM_001258031.1	214	Ggt/Tgt	0	1	1	UPI000066D938	0		ENST00000319327		ENSG00000184716	32237		7			HGNC	p.G214C		SERINC4		SNV							ENST00000319327	protein_coding			Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF5		G/C		A		875/2630			deleterious(0.03)				YES	SERINC4,missense_variant,p.Gly214Cys,ENST00000319327,NM_001258031.1;SERINC4,missense_variant,p.Gly214Cys,ENST00000299969,;HYPK,5_prime_UTR_variant,,ENST00000406925,;SERINC4,intron_variant,,ENST00000249714,NM_001258032.1;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,;SERINC4,missense_variant,p.Gly120Cys,ENST00000448553,;SERINC4,non_coding_transcript_exon_variant,,ENST00000476490,;SERF2,intron_variant,,ENST00000448830,;SERINC4,intron_variant,,ENST00000457418,;RP11-296A16.1,intron_variant,,ENST00000417761,;SERINC4,intron_variant,,ENST00000412697,;SERF2,intron_variant,,ENST00000409617,;SERF2,downstream_gene_variant,,ENST00000445816,;SERF2,downstream_gene_variant,,ENST00000486144,;SERF2,downstream_gene_variant,,ENST00000475927,;							MODERATE	640/1557		SERC4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000319796		CCDS58360.1			1	
CMTM6	0	LGGM	GRCh37	3	32529459	32529459	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	25	3	.	.	ENST00000205636.3:c.385G>T	p.Asp129Tyr	p.D129Y	ENST00000205636	NM_017801.2	129	Gac/Tac	0	1	1	UPI000004A0E5	0	NA	ENST00000205636		ENSG00000091317	19177		28	1.79		HGNC	p.D129Y		CMTM6		SNV							ENST00000205636	protein_coding	getma.org/?cm=var&var=hg19,3,32529459,C,A&fts=all		Pfam_domain:PF01284,PROSITE_profiles:PS51225,hmmpanther:PTHR22776,hmmpanther:PTHR22776:SF25		D/Y		A	low	1048/3863		getma.org/?cm=msa&ty=f&p=CKLF6_HUMAN&rb=35&re=154&var=D129Y	deleterious(0)				YES	CMTM6,missense_variant,p.Asp129Tyr,ENST00000205636,NM_017801.2;CMTM6,non_coding_transcript_exon_variant,,ENST00000478886,;CMTM6,non_coding_transcript_exon_variant,,ENST00000495177,;CMTM7,downstream_gene_variant,,ENST00000487007,;							MODERATE	385/552	D129Y	CKLF6_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000205636		CCDS2653.1			1	
CDV3	0	LGGM	GRCh37	3	133293883	133293883	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	26	3	.	.	ENST00000264993.3:c.241G>T	p.Asp81Tyr	p.D81Y	ENST00000264993	NM_001134422.1	81	Gac/Tac	0	1	1	UPI0000072568	0	NA	ENST00000264993		ENSG00000091527	26928		29	1.355		HGNC	p.D81Y		CDV3		SNV							ENST00000431519	protein_coding	getma.org/?cm=var&var=hg19,3,133293883,G,T&fts=all		hmmpanther:PTHR16284,Pfam_domain:PF15359		D/Y		T	low	556/3307		getma.org/?cm=msa&ty=f&p=CDV3_HUMAN&rb=74&re=256&var=D81Y	deleterious(0)	D6R9V8_HUMAN,D6R973_HUMAN			YES	CDV3,missense_variant,p.Asp81Tyr,ENST00000264993,NM_001134422.1,NM_017548.4,NM_001282763.1;CDV3,missense_variant,p.Asp81Tyr,ENST00000431519,;CDV3,missense_variant,p.Asp35Tyr,ENST00000503932,;CDV3,splice_region_variant,,ENST00000420115,NM_001134423.1,NM_001282765.1;CDV3,splice_region_variant,,ENST00000515421,;CDV3,splice_region_variant,,ENST00000508481,;CDV3,splice_region_variant,,ENST00000511392,;CDV3,splice_region_variant,,ENST00000504867,;CDV3,splice_region_variant,,ENST00000507408,;							MODERATE	241/777	D81Y	CDV3_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000264993		CCDS3079.1			1	
WDFY3	0	LGGM	GRCh37	4	85603578	85603578	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	33	3	.	.	ENST00000295888.4:c.9772G>T	p.Glu3258Ter	p.E3258*	ENST00000295888	NM_014991.4	3258	Gag/Tag	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		36	0		HGNC	p.E3258X		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85603578,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		E/*		A	NA	10180/14247		NA		D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,stop_gained,p.Glu3241Ter,ENST00000322366,;WDFY3,stop_gained,p.Glu3258Ter,ENST00000295888,NM_014991.4;WDFY3,non_coding_transcript_exon_variant,,ENST00000425179,;							HIGH	9772/10581	E3258*	WDFY3_HUMAN			Transcript			.	ENSP00000295888		CCDS3609.1			1	
SERINC4	0	LGGM	GRCh37	15	44092135	44092135	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	11	3	.	.	ENST00000319327.6:c.50C>A	p.Ala17Glu	p.A17E	ENST00000319327	NM_001258031.1	17	gCa/gAa	0	1	1	UPI000066D938	0		ENST00000319327		ENSG00000184716	32237		14			HGNC	p.A17E		SERINC4		SNV							ENST00000457418	protein_coding					A/E		T		285/2630			deleterious_low_confidence(0)				YES	SERINC4,missense_variant,p.Ala17Glu,ENST00000319327,NM_001258031.1;SERINC4,missense_variant,p.Ala17Glu,ENST00000299969,;HYPK,5_prime_UTR_variant,,ENST00000406925,;SERINC4,5_prime_UTR_variant,,ENST00000249714,NM_001258032.1;SERF2,3_prime_UTR_variant,,ENST00000409291,;SERF2,intron_variant,,ENST00000594896,;MFAP1,downstream_gene_variant,,ENST00000267812,NM_005926.2;HYPK,upstream_gene_variant,,ENST00000458412,;SERF2,upstream_gene_variant,,ENST00000600633,NM_016400.3;HYPK,upstream_gene_variant,,ENST00000442995,;SERF2,downstream_gene_variant,,ENST00000409646,;SERF2,downstream_gene_variant,,ENST00000430901,;HYPK,upstream_gene_variant,,ENST00000498605,;HYPK,upstream_gene_variant,,ENST00000497142,;SERINC4,missense_variant,p.Ala17Glu,ENST00000457418,;SERF2,3_prime_UTR_variant,,ENST00000448830,;SERF2,intron_variant,,ENST00000409617,;RP11-296A16.1,upstream_gene_variant,,ENST00000417761,;SERINC4,upstream_gene_variant,,ENST00000448553,;SERF2,downstream_gene_variant,,ENST00000445816,;SERINC4,upstream_gene_variant,,ENST00000412697,;SERINC4,upstream_gene_variant,,ENST00000476490,;MFAP1,downstream_gene_variant,,ENST00000484386,;							MODERATE	50/1557		SERC4_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000319796		CCDS58360.1			1	
KIAA1033	0	LGGM	GRCh37	12	105521065	105521065	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	40	3	.	.	ENST00000332180.5:c.1197C>A	p.Thr399=	p.T399=	ENST00000332180	NM_015275.1	399	acC/acA	0	1	1	UPI00001C1F3B	0		ENST00000332180		ENSG00000136051	29174		43			HGNC	p.T399T		KIAA1033		SNV			1				ENST00000332180	protein_coding			hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14745		T		A		1284/5812				F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN			YES	KIAA1033,splice_region_variant,p.=,ENST00000332180,NM_015275.1;KIAA1033,splice_region_variant,,ENST00000550053,;KIAA1033,splice_region_variant,,ENST00000311317,;KIAA1033,downstream_gene_variant,,ENST00000547404,;							LOW	1197/3522		WASH7_HUMAN			Transcript			.	ENSP00000328062		CCDS41826.1			1	
CTCF	0	LGGM	GRCh37	16	67662363	67662363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	34	3	.	.	ENST00000264010.4:c.1609C>A	p.Leu537Ile	p.L537I	ENST00000264010	NM_006565.3	537	Ctt/Att	0	1	1	UPI0000000DDE	0	getma.org/pdb.php?prot=CTCF_HUMAN&from=535&to=554&var=L537I	ENST00000264010		ENSG00000102974	13723		37	0.645		HGNC	p.L209I		CTCF		SNV			1				ENST00000401394	protein_coding	getma.org/?cm=var&var=hg19,16,67662363,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/I		A	neutral	2053/3939		getma.org/?cm=msa&ty=f&p=CTCF_HUMAN&rb=505&re=584&var=L537I	deleterious(0)				YES	CTCF,missense_variant,p.Leu537Ile,ENST00000264010,NM_006565.3;CTCF,missense_variant,p.Leu209Ile,ENST00000401394,NM_001191022.1;							MODERATE	1609/2184	L537I	CTCF_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000264010		CCDS10841.1			1	
ABCA12	0	LGGM	GRCh37	2	215884379	215884379	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	23	3	.	.	ENST00000272895.7:c.1429G>A	p.Ala477Thr	p.A477T	ENST00000272895	NM_173076.2	477	Gca/Aca	0	1	1	UPI000019AB7A	0	NA	ENST00000272895		ENSG00000144452	14637		26	0.695		HGNC	p.A477T		ABCA12		SNV			1				ENST00000272895	protein_coding	getma.org/?cm=var&var=hg19,2,215884379,C,T&fts=all		hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229		A/T		T	neutral	1649/9100		getma.org/?cm=msa&ty=f&p=ABCAC_HUMAN&rb=91&re=551&var=A477T	tolerated(0.12)	A0SYP7_HUMAN			YES	ABCA12,missense_variant,p.Ala477Thr,ENST00000272895,NM_173076.2;ABCA12,missense_variant,p.Ala159Thr,ENST00000389661,NM_015657.3;AC072062.3,upstream_gene_variant,,ENST00000437897,;AC072062.3,upstream_gene_variant,,ENST00000595058,;AC072062.3,upstream_gene_variant,,ENST00000602182,;AC072062.3,upstream_gene_variant,,ENST00000419251,;							MODERATE	1429/7788	A477T	ABCAC_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000272895		CCDS33372.1			1	
PCDHA4	0	LGGM	GRCh37	5	140188931	140188931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	31	3	.	.	ENST00000530339.1:c.2159C>A	p.Ala720Glu	p.A720E	ENST00000530339	NM_018907.2	720	gCg/gAg	0	1	1	UPI00001273CC	0	NA	ENST00000530339		ENSG00000204967	8670		34	3.645		HGNC	p.A720E		PCDHA4		SNV							ENST00000512229	protein_coding	getma.org/?cm=var&var=hg19,5,140188931,C,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF82,Low_complexity_(Seg):seg		A/E		A	high	2159/5251		getma.org/?cm=msa&ty=f&p=PCDA4_HUMAN&rb=671&re=790&var=A720E	deleterious_low_confidence(0)				YES	PCDHA4,missense_variant,p.Ala720Glu,ENST00000530339,NM_018907.2;PCDHA4,missense_variant,p.Ala720Glu,ENST00000512229,;PCDHA4,missense_variant,p.Ala720Glu,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;							MODERATE	2159/2844	A720E	PCDA4_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000435300		CCDS54916.1			1	
C3orf67	0	LGGM	GRCh37	3	58817426	58817426	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	12	3	.	.	ENST00000295966.7:c.1408T>A	p.Ser470Thr	p.S470T	ENST00000295966	NM_198463.2	470	Tcc/Acc	0	1		UPI0000EE2BB5	0	NA	ENST00000482387		ENSG00000163689	24763		15	1.61		HGNC	p.S129T		C3orf67		SNV							ENST00000484535	protein_coding	getma.org/?cm=var&var=hg19,3,58817426,A,T&fts=all		hmmpanther:PTHR12458,hmmpanther:PTHR12458:SF7		S/T		T	low	1883/2617		getma.org/?cm=msa&ty=f&p=CC067_HUMAN&rb=1&re=687&var=S596T	tolerated(0.05)	H7C5H9_HUMAN				C3orf67,missense_variant,p.Ser470Thr,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Ser596Thr,ENST00000482387,;C3orf67,missense_variant,p.Ser10Thr,ENST00000486145,;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,missense_variant,p.Ser129Thr,ENST00000484535,;C3orf67,missense_variant,p.Ser14Thr,ENST00000495572,;C3orf67,3_prime_UTR_variant,,ENST00000468415,;							MODERATE	1786/2070	S596T	CC067_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000417122					1	
FNDC3A	0	LGGM	GRCh37	13	49705332	49705332	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	47	3	.	.	ENST00000492622.2:c.312C>A	p.His104Gln	p.H104Q	ENST00000492622	NM_001079673.1	104	caC/caA	0	1	1	UPI0000229601	0	NA	ENST00000492622		ENSG00000102531	20296		50	2.045		HGNC	p.H104Q		FNDC3A		SNV							ENST00000492622	protein_coding	getma.org/?cm=var&var=hg19,13,49705332,C,A&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF38		H/Q		A	medium	617/6286		getma.org/?cm=msa&ty=f&p=FND3A_HUMAN&rb=1&re=218&var=H104Q	deleterious(0.01)				YES	FNDC3A,missense_variant,p.His104Gln,ENST00000492622,NM_001079673.1;FNDC3A,missense_variant,p.His48Gln,ENST00000398316,NM_014923.4;FNDC3A,missense_variant,p.His104Gln,ENST00000541916,NM_001278438.1;FNDC3A,missense_variant,p.His104Gln,ENST00000484074,;FNDC3A,non_coding_transcript_exon_variant,,ENST00000378383,;							MODERATE	312/3597	H104Q	FND3A_HUMAN			Transcript		benign(0.129)	.	ENSP00000417257		CCDS41886.1			1	
PABPC1L	0	LGGM	GRCh37	20	43541372	43541372	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	38	3	.	.	ENST00000255136.3:c.265C>A	p.Arg89=	p.R89=	ENST00000255136	NM_001124756.1	89	Cga/Aga	0	1		UPI00005190DD	0		ENST00000217073		ENSG00000101104	15797		41			HGNC	p.R89R		PABPC1L		SNV							ENST00000255136	protein_coding			Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF230,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		R		A		265/1851				Q4VXT4_HUMAN				PABPC1L,synonymous_variant,p.=,ENST00000255136,NM_001124756.1;PABPC1L,synonymous_variant,p.=,ENST00000537323,;PABPC1L,synonymous_variant,p.=,ENST00000217073,;PABPC1L,synonymous_variant,p.=,ENST00000217074,;YWHAB,downstream_gene_variant,,ENST00000372839,NM_003404.4;YWHAB,downstream_gene_variant,,ENST00000353703,NM_139323.3;							LOW	265/1845		PAP1L_HUMAN			Transcript			.	ENSP00000217073		CCDS42878.1			1	
CHL1	0	LGGM	GRCh37	3	386367	386367	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	30	3	.	.	ENST00000256509.2:c.823C>A	p.Leu275Met	p.L275M	ENST00000256509	NM_001253388.1	275	Ctg/Atg	0	1		UPI0000E08093	0	getma.org/pdb.php?prot=CHL1_HUMAN&from=241&to=327&var=L259M	ENST00000397491		ENSG00000134121	1939		33	1		HGNC	p.L259M		CHL1		SNV			1				ENST00000397491	protein_coding	getma.org/?cm=var&var=hg19,3,386367,C,A&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,PROSITE_profiles:PS50835		L/M		A	low	1242/5235		getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=241&re=327&var=L259M	tolerated(0.24)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN				CHL1,missense_variant,p.Leu275Met,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Leu259Met,ENST00000397491,;CHL1,downstream_gene_variant,,ENST00000435603,;CHL1,3_prime_UTR_variant,,ENST00000453040,;							MODERATE	775/3627	L259M	CHL1_HUMAN			Transcript		benign(0.13)	.	ENSP00000380628		CCDS58812.1			1	
PRKRIR	0	LGGM	GRCh37	11	76062645	76062645	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	45	3	.	.	ENST00000260045.3:c.1549G>T	p.Val517Leu	p.V517L	ENST00000260045	NM_004705.2	517	Gta/Tta	0	1	1	UPI0000131030	0	NA	ENST00000260045		ENSG00000137492	9440		48	1.995		HGNC	p.V342L	rs751677865	PRKRIR		SNV							ENST00000529901	protein_coding	getma.org/?cm=var&var=hg19,11,76062645,C,A&fts=all		hmmpanther:PTHR11697:SF10,hmmpanther:PTHR11697,Superfamily_domains:SSF53098		V/L		A	medium	1655/3300	1.60E-05	getma.org/?cm=msa&ty=f&p=P52K_HUMAN&rb=343&re=542&var=V517L	deleterious(0.01)	B4DS64_HUMAN			YES	PRKRIR,missense_variant,p.Val517Leu,ENST00000260045,NM_004705.2;PRKRIR,downstream_gene_variant,,ENST00000531878,;PRKRIR,non_coding_transcript_exon_variant,,ENST00000529901,;PRKRIR,downstream_gene_variant,,ENST00000528993,;PRKRIR,downstream_gene_variant,,ENST00000525277,;							MODERATE	1549/2286	V517L	P52K_HUMAN			Transcript		possibly_damaging(0.53)	.	ENSP00000260045	8.24E-06	CCDS8243.1			1	
GPR19	0	LGGM	GRCh37	12	12815366	12815366	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	33	3	.	.	ENST00000540510.1:c.17G>T	p.Arg6Ile	p.R6I	ENST00000540510		6	aGa/aTa	0	1		UPI000013CAB3	0	NA	ENST00000332427		ENSG00000183150	4473		36	0.345		HGNC	p.R6I		GPR19		SNV							ENST00000540796	protein_coding	getma.org/?cm=var&var=hg19,12,12815366,C,A&fts=all				R/I		A	neutral	372/1743		getma.org/?cm=msa&ty=f&p=GPR19_HUMAN&rb=1&re=81&var=R6I	tolerated_low_confidence(0.15)	F5GWU2_HUMAN				GPR19,missense_variant,p.Arg6Ile,ENST00000540510,;GPR19,missense_variant,p.Arg6Ile,ENST00000332427,NM_006143.2;GPR19,missense_variant,p.Arg6Ile,ENST00000540796,;							MODERATE	17/1248	R6I	GPR19_HUMAN			Transcript		benign(0.038)	.	ENSP00000333744		CCDS8652.1			1	
CLPTM1	0	LGGM	GRCh37	19	45488500	45488500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	21	3	.	.	ENST00000337392.5:c.611G>T	p.Arg204Leu	p.R204L	ENST00000337392	NM_001294.2	204	cGa/cTa	0	1	1	UPI0000072CBA	0	NA	ENST00000337392		ENSG00000104853	2087		24	2.465		HGNC	p.R151L		CLPTM1		SNV							ENST00000591304	protein_coding	getma.org/?cm=var&var=hg19,19,45488500,G,T&fts=all		hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0,Pfam_domain:PF05602		R/L		T	medium	761/2604		getma.org/?cm=msa&ty=f&p=CLPT1_HUMAN&rb=49&re=497&var=R204L	deleterious(0.04)	K7EKQ7_HUMAN,B4DDS3_HUMAN			YES	CLPTM1,missense_variant,p.Arg190Leu,ENST00000541297,;CLPTM1,missense_variant,p.Arg204Leu,ENST00000337392,NM_001294.2,NM_001282176.1,NM_001282175.1;CLPTM1,missense_variant,p.Arg102Leu,ENST00000546079,;CLPTM1,missense_variant,p.Arg151Leu,ENST00000591304,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000589158,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588855,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000587537,;CLPTM1,upstream_gene_variant,,ENST00000588274,;CLPTM1,upstream_gene_variant,,ENST00000586975,;CLPTM1,upstream_gene_variant,,ENST00000589347,;							MODERATE	611/2010	R204L	CLPT1_HUMAN			Transcript		benign(0.167)	.	ENSP00000336994		CCDS12651.1			1	
ST6GALNAC1	0	LGGM	GRCh37	17	74621429	74621429	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	12	3	.	.	ENST00000156626.7:c.1786G>T	p.Ala596Ser	p.A596S	ENST00000156626	NM_018414.3	596	Gcc/Tcc	0	1	1	UPI0000001C00	0	NA	ENST00000156626		ENSG00000070526	23614		15	-0.345		HGNC	p.A596S		ST6GALNAC1		SNV							ENST00000156626	protein_coding	getma.org/?cm=var&var=hg19,17,74621429,C,A&fts=all		hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713		A/S		A	neutral	1986/2570		getma.org/?cm=msa&ty=f&p=SIA7A_HUMAN&rb=562&re=600&var=A596S					YES	ST6GALNAC1,missense_variant,p.Ala596Ser,ENST00000156626,NM_018414.3;ST6GALNAC1,downstream_gene_variant,,ENST00000590784,;ST6GALNAC1,downstream_gene_variant,,ENST00000590878,;ST6GALNAC1,downstream_gene_variant,,ENST00000589004,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000585633,;ST6GALNAC1,downstream_gene_variant,,ENST00000588375,;ST6GALNAC1,downstream_gene_variant,,ENST00000589813,;							MODERATE	1786/1803	A596S	SIA7A_HUMAN			Transcript		benign(0.024)	.	ENSP00000156626		CCDS11748.1			1	
MAP3K19	0	LGGM	GRCh37	2	135743774	135743774	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	35	3	.	.	ENST00000375845.3:c.2668G>C	p.Asp890His	p.D890H	ENST00000375845	NM_025052.3	890	Gat/Cat	0	1	1	UPI00004F77F2	0	NA	ENST00000375845		ENSG00000176601	26249		38	1.24		HGNC	p.D777H		MAP3K19		SNV							ENST00000358371	protein_coding	getma.org/?cm=var&var=hg19,2,135743774,C,G&fts=all		hmmpanther:PTHR24361:SF129,hmmpanther:PTHR24361		D/H		G	low	2699/4377		getma.org/?cm=msa&ty=f&p=YSK4_HUMAN&rb=431&re=929&var=D890H	tolerated(0.18)	H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN			YES	MAP3K19,missense_variant,p.Asp890His,ENST00000375845,NM_025052.3;MAP3K19,missense_variant,p.Asp907His,ENST00000392915,;MAP3K19,missense_variant,p.Asp777His,ENST00000358371,NM_001018044.2;MAP3K19,missense_variant,p.Asp280His,ENST00000437365,;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,,ENST00000478805,;							MODERATE	2668/3987	D890H	M3K19_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000365005		CCDS2176.2			1	
BRD4	0	LGGM	GRCh37	19	15374308	15374308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	41	3	.	.	ENST00000263377.2:c.1264G>T	p.Val422Phe	p.V422F	ENST00000263377	NM_058243.2	422	Gtc/Ttc	0	1	1	UPI0000126ACE	0	getma.org/pdb.php?prot=BRD4_HUMAN&from=357&to=445&var=V422F	ENST00000263377		ENSG00000141867	13575		44	1.18		HGNC	p.V422F		BRD4		SNV							ENST00000594841	protein_coding	getma.org/?cm=var&var=hg19,19,15374308,C,A&fts=all		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		V/F		A	low	1486/5852		getma.org/?cm=msa&ty=f&p=BRD4_HUMAN&rb=357&re=445&var=V422F		Q96HN0_HUMAN,M0R0H4_HUMAN,M0QZD9_HUMAN			YES	BRD4,missense_variant,p.Val422Phe,ENST00000263377,NM_058243.2;BRD4,missense_variant,p.Val422Phe,ENST00000371835,NM_014299.2;BRD4,missense_variant,p.Val422Phe,ENST00000360016,;BRD4,missense_variant,p.Val422Phe,ENST00000594841,;BRD4,non_coding_transcript_exon_variant,,ENST00000602230,;BRD4,downstream_gene_variant,,ENST00000601071,;BRD4,downstream_gene_variant,,ENST00000597315,;							MODERATE	1264/4089	V422F	BRD4_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000263377		CCDS12328.1			1	
F5	0	LGGM	GRCh37	1	169497332	169497332	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	25	3	.	.	ENST00000367797.3:c.5420C>T	p.Ala1807Val	p.A1807V	ENST00000367797	NM_000130.4	1807	gCc/gTc	0	1	1	UPI0000070F01	0	getma.org/pdb.php?prot=FA5_HUMAN&from=1578&to=1907&var=A1807V	ENST00000367797		ENSG00000198734	3542		28	2.765		HGNC	p.A1807V		F5		SNV			1				ENST00000367797	protein_coding	getma.org/?cm=var&var=hg19,1,169497332,G,A&fts=all		Gene3D:2.60.40.420,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF597,Superfamily_domains:SSF49503		A/V		A	medium	5622/7024		getma.org/?cm=msa&ty=f&p=FA5_HUMAN&rb=1578&re=1907&var=A1807V	deleterious(0)	Q8TD21_HUMAN,Q2HZZ1_HUMAN,Q1L610_HUMAN			YES	F5,missense_variant,p.Ala1812Val,ENST00000367796,;F5,missense_variant,p.Ala1807Val,ENST00000367797,NM_000130.4;							MODERATE	5420/6675	A1807V	FA5_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000356771		CCDS1281.1			1	
JMJD1C	0	LGGM	GRCh37	10	64928293	64928293	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	38	3	.	.	ENST00000399262.2:c.7435G>T	p.Glu2479Ter	p.E2479*	ENST00000399262	NM_032776.1	2479	Gaa/Taa	0	1	1	UPI0000198BEF	0	NA	ENST00000399262		ENSG00000171988	12313		41	0		HGNC	p.E2242X		JMJD1C		SNV			1				ENST00000402544	protein_coding	getma.org/?cm=var&var=hg19,10,64928293,C,A&fts=all		Pfam_domain:PF02373,PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6,SMART_domains:SM00558,Superfamily_domains:SSF51197		E/*		A	NA	7654/8666		NA					YES	JMJD1C,stop_gained,p.Glu2479Ter,ENST00000399262,NM_032776.1;JMJD1C,stop_gained,p.Glu2242Ter,ENST00000402544,NM_004241.2;JMJD1C,stop_gained,p.Glu2297Ter,ENST00000542921,NM_001282948.1;JMJD1C,3_prime_UTR_variant,,ENST00000399251,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000467356,;							HIGH	7435/7623	E2479*	JHD2C_HUMAN			Transcript			.	ENSP00000382204		CCDS41532.1			1	
YLPM1	0	LGGM	GRCh37	14	75230471	75230471	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	27	3	.	.	ENST00000325680.7:c.279G>A	p.Pro93=	p.P93=	ENST00000325680	NM_019589.2	93	ccG/ccA	0	1	1	UPI00006C1433	0		ENST00000325680		ENSG00000119596	17798		30			HGNC	p.P93P		YLPM1		SNV							ENST00000238571	protein_coding			hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0,Low_complexity_(Seg):seg		P		A		403/7017				B4DMQ9_HUMAN			YES	YLPM1,synonymous_variant,p.=,ENST00000325680,NM_019589.2;YLPM1,synonymous_variant,p.=,ENST00000238571,;YLPM1,synonymous_variant,p.=,ENST00000552421,;							LOW	279/6441		YLPM1_HUMAN			Transcript			.	ENSP00000324463		CCDS45135.1			1	
CSF1R	0	LGGM	GRCh37	5	149460526	149460526	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	8	3	.	.	ENST00000286301.3:c.111G>A	p.Thr37=	p.T37=	ENST00000286301	NM_005211.3	37	acG/acA	0	1	1	UPI000004984A	0		ENST00000286301		ENSG00000182578	2433		11			HGNC	p.T37T	rs762392545	CSF1R	6.07E-05	SNV			1	9.64E-05			ENST00000286301	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00409,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726		T		T		403/3989				Q6LEI2_HUMAN,D6RGW1_HUMAN			YES	CSF1R,synonymous_variant,p.=,ENST00000286301,NM_005211.3,NM_001288705.1;CSF1R,synonymous_variant,p.=,ENST00000543093,;CSF1R,5_prime_UTR_variant,,ENST00000511344,;CSF1R,synonymous_variant,p.=,ENST00000504875,;CSF1R,non_coding_transcript_exon_variant,,ENST00000502660,;							LOW	111/2919		CSF1R_HUMAN	0.000153		Transcript			.	ENSP00000286301	2.47E-05	CCDS4302.1			1	
ERN1	0	LGGM	GRCh37	17	62122248	62122248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	40	3	.	.	ENST00000433197.3:c.2693G>T	p.Arg898Ile	p.R898I	ENST00000433197	NM_001433.3	898	aGa/aTa	0	1	1	UPI0000201263	0	getma.org/pdb.php?prot=ERN1_HUMAN&from=837&to=963&var=R898I	ENST00000433197		ENSG00000178607	3449		43	3.195		HGNC	p.R898I		ERN1		SNV							ENST00000433197	protein_coding	getma.org/?cm=var&var=hg19,17,62122248,C,A&fts=all		PROSITE_profiles:PS51392,hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Pfam_domain:PF06479,SMART_domains:SM00580		R/I		A	medium	2789/7876		getma.org/?cm=msa&ty=f&p=ERN1_HUMAN&rb=837&re=963&var=R898I	deleterious(0)				YES	ERN1,missense_variant,p.Arg898Ile,ENST00000433197,NM_001433.3;							MODERATE	2693/2934	R898I	ERN1_HUMAN			Transcript		possibly_damaging(0.644)	.	ENSP00000401445		CCDS45762.1			1	
PXN	0	LGGM	GRCh37	12	120651760	120651760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	24	3	.	.	ENST00000267257.7:c.1436G>T	p.Arg479Leu	p.R479L	ENST00000267257	NM_001243756.1	479	cGc/cTc	0	1		UPI0000E00CD4	0	getma.org/pdb.php?prot=PAXI_HUMAN&from=417&to=472&var=R465L	ENST00000228307		ENSG00000089159	9718		27	1.3		HGNC	p.R479L		PXN		SNV							ENST00000267257	protein_coding	getma.org/?cm=var&var=hg19,12,120651760,C,A&fts=all		Superfamily_domains:SSF57716,SMART_domains:SM00132,Gene3D:2.10.110.10,Pfam_domain:PF00412,hmmpanther:PTHR24216:SF11,hmmpanther:PTHR24216,PROSITE_profiles:PS50023		R/L		A	low	1536/3785		getma.org/?cm=msa&ty=f&p=PAXI_HUMAN&rb=417&re=472&var=R465L	deleterious(0)	F8W1E0_HUMAN,F8W0K8_HUMAN,F8W0G0_HUMAN				PXN,missense_variant,p.Arg277Leu,ENST00000397506,;PXN,missense_variant,p.Arg463Leu,ENST00000536957,;PXN,missense_variant,p.Arg479Leu,ENST00000267257,NM_001243756.1;PXN,missense_variant,p.Arg298Leu,ENST00000458477,NM_025157.4;PXN,missense_variant,p.Arg465Leu,ENST00000228307,NM_001080855.2;PXN,missense_variant,p.Arg431Leu,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,;							MODERATE	1394/1776	R465L	PAXI_HUMAN			Transcript		benign(0.342)	.	ENSP00000228307		CCDS44997.1			1	
CEP112	0	LGGM	GRCh37	17	64023645	64023645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	7	3	.	.	ENST00000392769.2:c.1630C>T	p.His544Tyr	p.H544Y	ENST00000392769	NM_145036.3	544	Cat/Tat	0	1	1	UPI0000603C26	0	NA	ENST00000392769		ENSG00000154240	28514		10	1.61		HGNC	p.H544Y		CEP112		SNV							ENST00000392769	protein_coding	getma.org/?cm=var&var=hg19,17,64023645,G,A&fts=all		hmmpanther:PTHR18871		H/Y		A	low	1849/3517		getma.org/?cm=msa&ty=f&p=CE112_HUMAN&rb=401&re=600&var=H544Y	deleterious(0)	J3QQV3_HUMAN			YES	CEP112,missense_variant,p.His544Tyr,ENST00000392769,NM_145036.3;CEP112,missense_variant,p.His544Tyr,ENST00000535342,NM_001199165.1;CEP112,missense_variant,p.His502Tyr,ENST00000537949,;CEP112,missense_variant,p.His179Tyr,ENST00000541355,;CEP112,missense_variant,p.His544Tyr,ENST00000583358,;							MODERATE	1630/2868	H544Y	CE112_HUMAN			Transcript		benign(0.327)	.	ENSP00000376522		CCDS32710.1			1	
DAAM1	0	LGGM	GRCh37	14	59814275	59814275	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	11	4	.	.	ENST00000395125.1:c.2124C>T	p.Asp708=	p.D708=	ENST00000395125	NM_014992.2	708	gaC/gaT	0	1	1	UPI0000161FAA	0		ENST00000395125		ENSG00000100592	18142		15			HGNC	p.D698D		DAAM1		SNV							ENST00000360909	protein_coding			Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF181,SMART_domains:SM00498,Superfamily_domains:SSF101447		D		T		2147/5806							YES	DAAM1,synonymous_variant,p.=,ENST00000395125,NM_014992.2;DAAM1,synonymous_variant,p.=,ENST00000351081,;DAAM1,synonymous_variant,p.=,ENST00000360909,NM_001270520.1;DAAM1,non_coding_transcript_exon_variant,,ENST00000553966,;DAAM1,non_coding_transcript_exon_variant,,ENST00000554459,;							LOW	2124/3237		DAAM1_HUMAN			Transcript			.	ENSP00000378557		CCDS9737.1			1	
PCDH11X	0	LGGM	GRCh37	X	91133770	91133770	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	42	4	.	.	ENST00000373094.1:c.2531C>A	p.Ala844Asp	p.A844D	ENST00000373094	NM_032968.3	844	gCt/gAt	0	1	1	UPI0000070BD8	0	NA	ENST00000373094		ENSG00000102290	8656		46	1.935		HGNC	p.A844D		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91133770,C,A&fts=all		Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15		A/D		A	medium	3376/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=775&re=1001&var=A844D	tolerated(0.07)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Ala844Asp,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Ala844Asp,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Ala844Asp,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Ala844Asp,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Ala844Asp,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Ala844Asp,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Ala844Asp,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Ala844Asp,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Ala844Asp,ENST00000298274,;							MODERATE	2531/4044	A844D	PC11X_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000362186		CCDS14461.1			1	
BTN3A2	0	LGGM	GRCh37	6	26368920	26368920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	94	4	.	.	ENST00000356386.2:c.213C>A	p.Ser71Arg	p.S71R	ENST00000356386	NM_007047.4	71	agC/agA	0	1	1	UPI000006E484	0	getma.org/pdb.php?prot=BT3A2_HUMAN&from=30&to=143&var=S71R	ENST00000356386		ENSG00000186470	1139		98	0.22		HGNC	p.S71R		BTN3A2		SNV							ENST00000527417	protein_coding	getma.org/?cm=var&var=hg19,6,26368920,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF45,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		S/R		A	neutral	401/3017		getma.org/?cm=msa&ty=f&p=BT3A2_HUMAN&rb=30&re=143&var=S71R	tolerated(0.13)	E9PRX1_HUMAN,E9PRR1_HUMAN			YES	BTN3A2,missense_variant,p.Ser71Arg,ENST00000356386,NM_007047.4,NM_001197247.2,NM_001197246.2;BTN3A2,missense_variant,p.Ser71Arg,ENST00000377708,;BTN3A2,missense_variant,p.Ser29Arg,ENST00000508906,NM_001197249.2;BTN3A2,missense_variant,p.Ser71Arg,ENST00000396948,;BTN3A2,missense_variant,p.Ser71Arg,ENST00000527422,;BTN3A2,missense_variant,p.Ser48Arg,ENST00000396934,NM_001197248.2;BTN3A2,missense_variant,p.Ser29Arg,ENST00000532865,;BTN3A2,missense_variant,p.Ser71Arg,ENST00000527417,;BTN3A2,missense_variant,p.Ser29Arg,ENST00000530653,;BTN3A2,upstream_gene_variant,,ENST00000527639,;AL021917.1,upstream_gene_variant,,ENST00000401160,;BTN3A2,intron_variant,,ENST00000532994,;BTN3A2,intron_variant,,ENST00000524682,;BTN3A2,intron_variant,,ENST00000532627,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000528222,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000528541,;BTN3A2,intron_variant,,ENST00000524459,;BTN3A2,upstream_gene_variant,,ENST00000604202,;BTN3A2,upstream_gene_variant,,ENST00000531055,;BTN3A2,upstream_gene_variant,,ENST00000532294,;							MODERATE	213/1005	S71R	BT3A2_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000348751		CCDS4605.1			1	
GRIA1	0	LGGM	GRCh37	5	153190767	153190767	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	11	4	.	.	ENST00000518783.1:c.2733G>A	p.Leu911=	p.L911=	ENST00000518783	NM_001258021.1	911	ttG/ttA	0	1		UPI000013DE17	0		ENST00000285900		ENSG00000155511	4571		15			HGNC	p.L834L	COSM2149656,COSM2149657	GRIA1		SNV						1,1	ENST00000521843	protein_coding			hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157		L		A		3046/5708								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,;					1,1		LOW	2703/2721		GRIA1_HUMAN			Transcript			.	ENSP00000285900		CCDS4322.1			1	
USP14	0	LGGM	GRCh37	18	180263	180263	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	11	4	.	.	ENST00000261601.7:c.328C>A	p.Leu110Ile	p.L110I	ENST00000261601	NM_005151.3	110	Ctt/Att	0	1	1	UPI0000163941	0	getma.org/pdb.php?prot=UBP14_HUMAN&from=102&to=480&var=L110I	ENST00000261601		ENSG00000101557	12612		15	2.48		HGNC	p.L75I		USP14		SNV							ENST00000582707	protein_coding	getma.org/?cm=var&var=hg19,18,180263,C,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF351,PROSITE_patterns:PS00972,Pfam_domain:PF00443,Superfamily_domains:SSF54001		L/I		A	medium	419/4921		getma.org/?cm=msa&ty=f&p=UBP14_HUMAN&rb=102&re=480&var=L110I	deleterious(0)	J3KS55_HUMAN,D3DUG9_HUMAN			YES	USP14,missense_variant,p.Leu110Ile,ENST00000261601,NM_005151.3;USP14,missense_variant,p.Leu64Ile,ENST00000383589,;USP14,missense_variant,p.Leu75Ile,ENST00000582707,NM_001037334.1;USP14,missense_variant,p.Leu99Ile,ENST00000400266,;USP14,3_prime_UTR_variant,,ENST00000583119,;USP14,non_coding_transcript_exon_variant,,ENST00000578942,;							MODERATE	328/1485	L110I	UBP14_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000261601		CCDS32780.1			1	
GABRG3	0	LGGM	GRCh37	15	27772717	27772717	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	71	4	.	.	ENST00000333743.6:c.1004C>T	p.Ala335Val	p.A335V	ENST00000333743	NM_033223.4	335	gCc/gTc	0	1	1	UPI000012AFCB	0	getma.org/pdb.php?prot=GBRG3_HUMAN&from=260&to=461&var=A335V	ENST00000333743		ENSG00000182256	4088		75	1.81		HGNC	p.A335V	COSM554574	GABRG3		SNV						1	ENST00000333743	protein_coding	getma.org/?cm=var&var=hg19,15,27772717,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF195,hmmpanther:PTHR18945,Gene3D:1.20.58.390,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR01620,Prints_domain:PR00253		A/V		T	low	1258/2004		getma.org/?cm=msa&ty=f&p=GBRG3_HUMAN&rb=260&re=461&var=A335V	deleterious(0)				YES	GABRG3,missense_variant,p.Ala335Val,ENST00000333743,NM_033223.4;GABRG3,missense_variant,p.Ala98Val,ENST00000451330,;GABRG3,downstream_gene_variant,,ENST00000554696,;RP11-100M12.3,intron_variant,,ENST00000556642,;					1		MODERATE	1004/1404	A335V	GBRG3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000331912		CCDS45195.1			1	
KDM3A	0	LGGM	GRCh37	2	86676974	86676974	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	61	4	.	.	ENST00000409556.1:c.231G>A	p.Trp77Ter	p.W77*	ENST00000409556		77	tgG/tgA	0	1		UPI0000161FAE	0	NA	ENST00000312912		ENSG00000115548	20815		65	0		HGNC	p.W77X		KDM3A		SNV							ENST00000312912	protein_coding	getma.org/?cm=var&var=hg19,2,86676974,G,A&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7		W/*		A	NA	558/4884		NA		C9JC73_HUMAN,C9J7Q7_HUMAN				KDM3A,stop_gained,p.Trp77Ter,ENST00000409556,;KDM3A,stop_gained,p.Trp77Ter,ENST00000312912,NM_018433.5;KDM3A,stop_gained,p.Trp77Ter,ENST00000409064,NM_001146688.1;KDM3A,stop_gained,p.Trp77Ter,ENST00000452034,;KDM3A,stop_gained,p.Trp77Ter,ENST00000427678,;KDM3A,intron_variant,,ENST00000542128,;KDM3A,non_coding_transcript_exon_variant,,ENST00000466058,;KDM3A,non_coding_transcript_exon_variant,,ENST00000498528,;KDM3A,stop_gained,p.Trp77Ter,ENST00000441719,;KDM3A,non_coding_transcript_exon_variant,,ENST00000463013,;							HIGH	231/3966	W77*	KDM3A_HUMAN			Transcript			.	ENSP00000323659		CCDS1990.1			1	
ATG4C	0	LGGM	GRCh37	1	63300457	63300457	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	4	.	.	ENST00000317868.4:c.1023G>A	p.Leu341=	p.L341=	ENST00000317868	NM_032852.3	341	ttG/ttA	0	1	1	UPI000000DC9F	0		ENST00000317868		ENSG00000125703	16040		19			HGNC	p.L341L		ATG4C		SNV							ENST00000317868	protein_coding			hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF38,Pfam_domain:PF03416,Superfamily_domains:SSF54001		L		A		1230/2938				C9JC51_HUMAN,A6NGQ4_HUMAN			YES	ATG4C,synonymous_variant,p.=,ENST00000317868,NM_032852.3;ATG4C,synonymous_variant,p.=,ENST00000371120,NM_178221.2;ATG4C,synonymous_variant,p.=,ENST00000414558,;							LOW	1023/1377		ATG4C_HUMAN			Transcript			.	ENSP00000322159		CCDS623.1			1	
SCN1A	0	LGGM	GRCh37	2	166908475	166908475	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	44	4	.	.	ENST00000303395.4:c.718C>G	p.Leu240Val	p.L240V	ENST00000303395		240	Ctg/Gtg	0	1	1	UPI000003C71D	0	getma.org/pdb.php?prot=SCN1A_HUMAN&from=156&to=422&var=L240V	ENST00000303395		ENSG00000144285	10585		48	2.28		HGNC	p.L240V		SCN1A		SNV			1				ENST00000409050	protein_coding	getma.org/?cm=var&var=hg19,2,166908475,G,C&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		L/V		C	medium	718/8112		getma.org/?cm=msa&ty=f&p=SCN1A_HUMAN&rb=156&re=422&var=L240V	deleterious(0.01)	F8T7W7_HUMAN			YES	SCN1A,missense_variant,p.Leu240Val,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Leu240Val,ENST00000303395,;SCN1A,missense_variant,p.Leu240Val,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,missense_variant,p.Leu240Val,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;							MODERATE	718/6030	L240V	SCN1A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000303540		CCDS54413.1			1	
PPP3CB	0	LGGM	GRCh37	10	75231247	75231247	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	57	4	.	.	ENST00000394829.2:c.648C>A	p.His216Gln	p.H216Q	ENST00000394829	NM_001142353.1	216	caC/caA	0	1		UPI0000130FD7	0	getma.org/pdb.php?prot=PP2BB_HUMAN&from=92&to=294&var=H216Q	ENST00000360663		ENSG00000107758	9315		61	0.405		HGNC	p.H216Q		PPP3CB		SNV							ENST00000394828	protein_coding	getma.org/?cm=var&var=hg19,10,75231247,G,T&fts=all		Gene3D:3.60.21.10,Pfam_domain:PF00149,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF186,SMART_domains:SM00156,Superfamily_domains:SSF56300		H/Q		T	neutral	760/3501		getma.org/?cm=msa&ty=f&p=PP2BB_HUMAN&rb=92&re=294&var=H216Q	tolerated(0.34)	Q9UMB2_HUMAN,B7Z6P2_HUMAN				PPP3CB,missense_variant,p.His216Gln,ENST00000360663,;PPP3CB,missense_variant,p.His216Gln,ENST00000394829,NM_001142353.1,NM_021132.2;PPP3CB,missense_variant,p.His216Gln,ENST00000394828,NM_001142354.1;PPP3CB,missense_variant,p.His216Gln,ENST00000342558,;PPP3CB,missense_variant,p.His130Gln,ENST00000545874,;PPP3CB,missense_variant,p.His234Gln,ENST00000394822,;PPP3CB,upstream_gene_variant,,ENST00000430762,;PPP3CB,non_coding_transcript_exon_variant,,ENST00000495897,;							MODERATE	648/1575	H216Q	PP2BB_HUMAN			Transcript		benign(0.009)	.	ENSP00000353881		CCDS7328.1			1	
KCNH1	0	LGGM	GRCh37	1	210948751	210948751	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	21	4	.	.	ENST00000271751.4:c.2051A>G	p.Tyr684Cys	p.Y684C	ENST00000271751		684	tAc/tGc	0	1	1	UPI000003230D	0	getma.org/pdb.php?prot=KCNH1_HUMAN&from=599&to=686&var=Y684C	ENST00000271751		ENSG00000143473	6250		25	3.265		HGNC	p.Y684C		KCNH1		SNV			1				ENST00000271751	protein_coding	getma.org/?cm=var&var=hg19,1,210948751,T,C&fts=all		Gene3D:2.60.120.10,Prints_domain:PR01464,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,SMART_domains:SM00100,Superfamily_domains:SSF51206		Y/C		C	medium	2079/3066		getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=599&re=686&var=Y684C	deleterious(0)				YES	KCNH1,missense_variant,p.Tyr657Cys,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Tyr684Cys,ENST00000271751,;							MODERATE	2051/2970	Y684C	KCNH1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000271751		CCDS1496.1			1	
LRBA	0	LGGM	GRCh37	4	151837554	151837554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	22	4	.	.	ENST00000357115.3:c.893A>T	p.Lys298Met	p.K298M	ENST00000357115	NM_006726.4	298	aAg/aTg	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		26	2.295		HGNC	p.K298M		LRBA		SNV			1				ENST00000357115	protein_coding	getma.org/?cm=var&var=hg19,4,151837554,T,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Pfam_domain:PF13385,Gene3D:2.60.120.200,Superfamily_domains:SSF49899		K/M		A	medium	1137/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=205&re=377&var=K298M	deleterious(0.01)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Lys298Met,ENST00000535741,;LRBA,missense_variant,p.Lys298Met,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Lys298Met,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Lys298Met,ENST00000507224,;							MODERATE	893/8592	K298M	LRBA_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000349629		CCDS3773.1			1	
HEATR3	0	LGGM	GRCh37	16	50102697	50102697	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	61	4	.	.	ENST00000299192.7:c.318C>A	p.Leu106=	p.L106=	ENST00000299192	NM_182922.2	106	ctC/ctA	0	1	1	UPI0000071B6C	0		ENST00000299192		ENSG00000155393	26087		65			HGNC	p.L106L		HEATR3		SNV							ENST00000299192	protein_coding			hmmpanther:PTHR13347:SF1,hmmpanther:PTHR13347,Pfam_domain:PF13513,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		L		A		509/3560							YES	HEATR3,synonymous_variant,p.=,ENST00000299192,NM_182922.2;HEATR3,synonymous_variant,p.=,ENST00000285767,;RP11-429P3.3,upstream_gene_variant,,ENST00000568130,;HEATR3,non_coding_transcript_exon_variant,,ENST00000561819,;HEATR3,downstream_gene_variant,,ENST00000569324,;							LOW	318/2043		HEAT3_HUMAN			Transcript			.	ENSP00000299192		CCDS10739.1			1	
ZNF675	0	LGGM	GRCh37	19	23836333	23836333	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	62	4	.	.	ENST00000359788.4:c.1402A>G	p.Thr468Ala	p.T468A	ENST00000359788	NM_138330.2	468	Act/Gct	0	1	1	UPI0000203902	0	getma.org/pdb.php?prot=ZN675_HUMAN&from=466&to=491&var=T468A	ENST00000359788		ENSG00000197372	30768		66	0.445		HGNC	p.T468A		ZNF675		SNV							ENST00000359788	protein_coding	getma.org/?cm=var&var=hg19,19,23836333,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/A		C	neutral	1571/2301		getma.org/?cm=msa&ty=f&p=ZN675_HUMAN&rb=446&re=511&var=T468A	tolerated(0.06)	M0R373_HUMAN			YES	ZNF675,missense_variant,p.Thr468Ala,ENST00000359788,NM_138330.2;ZNF675,intron_variant,,ENST00000601935,;ZNF675,intron_variant,,ENST00000596211,;ZNF675,intron_variant,,ENST00000600313,;ZNF675,downstream_gene_variant,,ENST00000599535,;ZNF675,downstream_gene_variant,,ENST00000601010,;ZNF675,non_coding_transcript_exon_variant,,ENST00000600299,;ZNF675,downstream_gene_variant,,ENST00000597074,;							MODERATE	1402/1707	T468A	ZN675_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000352836		CCDS32981.1			1	
CCR4	0	LGGM	GRCh37	3	32995042	32995042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	63	4	.	.	ENST00000330953.5:c.128C>A	p.Pro43His	p.P43H	ENST00000330953	NM_005508.4	43	cCc/cAc	0	1	1	UPI000002DFE9	0	NA	ENST00000330953		ENSG00000183813	1605		67	3.055		HGNC	p.P43H		CCR4		SNV							ENST00000330953	protein_coding	getma.org/?cm=var&var=hg19,3,32995042,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00657,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF12,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/H		A	medium	296/3095		getma.org/?cm=msa&ty=f&p=CCR4_HUMAN&rb=1&re=55&var=P43H	deleterious(0)	A0N0Q1_HUMAN			YES	CCR4,missense_variant,p.Pro43His,ENST00000330953,NM_005508.4;							MODERATE	128/1083	P43H	CCR4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332659		CCDS2656.1			1	
EXD3	0	LGGM	GRCh37	9	140250744	140250744	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	8	4	.	.	ENST00000340951.4:c.733C>A	p.Gln245Lys	p.Q245K	ENST00000340951	NM_017820.3	245	Cag/Aag	0	1	1	UPI00003676BC	0	NA	ENST00000340951		ENSG00000187609	26023		12	0.69		HGNC	p.Q245K		EXD3		SNV							ENST00000340951	protein_coding	getma.org/?cm=var&var=hg19,9,140250744,G,T&fts=all		hmmpanther:PTHR13620,hmmpanther:PTHR13620:SF4		Q/K		T	neutral	929/2872		getma.org/?cm=msa&ty=f&p=MUT7_HUMAN&rb=1&re=359&var=Q245K	tolerated(0.18)	E9PI94_HUMAN			YES	EXD3,missense_variant,p.Gln245Lys,ENST00000340951,NM_017820.3;EXD3,5_prime_UTR_variant,,ENST00000342129,;EXD3,non_coding_transcript_exon_variant,,ENST00000490886,;EXD3,upstream_gene_variant,,ENST00000484392,;EXD3,upstream_gene_variant,,ENST00000478350,;EXD3,missense_variant,p.Gln73Lys,ENST00000491734,;EXD3,3_prime_UTR_variant,,ENST00000478344,;EXD3,non_coding_transcript_exon_variant,,ENST00000472958,;EXD3,upstream_gene_variant,,ENST00000487745,;							MODERATE	733/2631	Q245K	MUT7_HUMAN			Transcript		benign(0.015)	.	ENSP00000340474		CCDS48066.1			1	
LNPEP	0	LGGM	GRCh37	5	96349401	96349401	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	61	4	.	.	ENST00000231368.5:c.2085C>A	p.Asn695Lys	p.N695K	ENST00000231368	NM_005575.2	695	aaC/aaA	0	1	1	UPI000013C94B	0	getma.org/pdb.php?prot=LCAP_HUMAN&from=689&to=1008&var=N695K	ENST00000231368		ENSG00000113441	6656		65	0.97		HGNC	p.N695K		LNPEP		SNV							ENST00000231368	protein_coding	getma.org/?cm=var&var=hg19,5,96349401,C,A&fts=all		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF42		N/K		A	low	2777/12752		getma.org/?cm=msa&ty=f&p=LCAP_HUMAN&rb=689&re=1008&var=N695K	tolerated(0.2)				YES	LNPEP,missense_variant,p.Asn695Lys,ENST00000231368,NM_005575.2;LNPEP,missense_variant,p.Asn681Lys,ENST00000395770,NM_175920.3;							MODERATE	2085/3078	N695K	LCAP_HUMAN			Transcript		benign(0.026)	.	ENSP00000231368		CCDS4087.1			1	
IGKV2D-24	0	LGGM	GRCh37	2	90044371	90044371	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	84	4	.	.	ENST00000462693.1:c.292C>A	p.Leu98Met	p.L98M	ENST00000462693		98	Ctg/Atg	0	1	1	UPI0000176EBA	0		ENST00000462693		ENSG00000241566	5797	0.00199	88			HGNC	p.L98M	rs767972014	IGKV2D-24		SNV							ENST00000462693	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF128,SMART_domains:SM00406,Superfamily_domains:SSF48726		L/M		A		322/390			deleterious(0)				YES	IGKV2D-24,missense_variant,p.Leu98Met,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;							MODERATE	292/360					Transcript		probably_damaging(0.917)	common_variant	ENSP00000417136	0.000191				1	
POM121L4P	0	LGGM	GRCh37	22	21045371	21045371	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	76	4	.	.	ENST00000427789.3:n.1155C>A		*385*	ENST00000427789				0	1	1		0		ENST00000427789		ENSG00000217261	19326		80			HGNC	p.A351A		POM121L4P		SNV							ENST00000412250	transcribed_unprocessed_pseudogene							A		1155/1891							YES	POM121L4P,non_coding_transcript_exon_variant,,ENST00000412250,;POM121L4P,non_coding_transcript_exon_variant,,ENST00000427789,;							MODIFIER						Transcript			.						1	
CAMTA1	0	LGGM	GRCh37	1	7737713	7737713	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	44	4	.	.	ENST00000303635.7:c.2834C>A	p.Ser945Tyr	p.S945Y	ENST00000303635	NM_015215.2	945	tCc/tAc	0	1	1	UPI00001C1D72	0	getma.org/pdb.php?prot=CMTA1_HUMAN&from=872&to=952&var=S945Y	ENST00000303635		ENSG00000171735	18806		48	2.99		HGNC	p.S945Y		CAMTA1		SNV			1				ENST00000439411	protein_coding	getma.org/?cm=var&var=hg19,1,7737713,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR23335,hmmpanther:PTHR23335:SF2,Superfamily_domains:SSF81296		S/Y		A	medium	3041/8444		getma.org/?cm=msa&ty=f&p=CMTA1_HUMAN&rb=872&re=952&var=S945Y	deleterious(0)				YES	CAMTA1,missense_variant,p.Ser945Tyr,ENST00000303635,NM_015215.2;CAMTA1,missense_variant,p.Ser945Tyr,ENST00000439411,;							MODERATE	2834/5022	S945Y	CMTA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306522		CCDS30576.1			1	
L3MBTL4	0	LGGM	GRCh37	18	6138218	6138218	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	9	4	.	.	ENST00000284898.6:c.1174G>T	p.Gly392Cys	p.G392C	ENST00000284898	NM_173464.3	392	Ggt/Tgt	0	1	1	UPI000013DDC0	0	NA	ENST00000284898		ENSG00000154655	26677		13	2.8		HGNC	p.G392C		L3MBTL4		SNV							ENST00000317931	protein_coding	getma.org/?cm=var&var=hg19,18,6138218,C,A&fts=all		Pfam_domain:PF01530,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF78,Superfamily_domains:SSF63748		G/C		A	medium	1375/3586		getma.org/?cm=msa&ty=f&p=LMBL4_HUMAN&rb=376&re=407&var=G392C	deleterious(0)	J3QLK8_HUMAN,J3KS41_HUMAN,J3KRN7_HUMAN			YES	L3MBTL4,missense_variant,p.Gly392Cys,ENST00000400104,;L3MBTL4,missense_variant,p.Gly392Cys,ENST00000284898,NM_173464.3;L3MBTL4,missense_variant,p.Gly392Cys,ENST00000317931,;L3MBTL4,missense_variant,p.Gly392Cys,ENST00000400105,;L3MBTL4,missense_variant,p.Gly205Cys,ENST00000535782,;							MODERATE	1174/1872	G392C	LMBL4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000284898		CCDS11839.2			1	
MYH10	0	LGGM	GRCh37	17	8395820	8395820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	6	4	.	.	ENST00000360416.3:c.4466C>A	p.Ala1489Glu	p.A1489E	ENST00000360416	NM_001256012.1	1489	gCa/gAa	0	1		UPI000020093B	0	NA	ENST00000269243		ENSG00000133026	7568		10	2.29		HGNC	p.A1458E		MYH10		SNV							ENST00000269243	protein_coding	getma.org/?cm=var&var=hg19,17,8395820,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF328,hmmpanther:PTHR13140,Pfam_domain:PF01576		A/E		T	medium	4512/7662		getma.org/?cm=msa&ty=f&p=MYH10_HUMAN&rb=1073&re=1930&var=A1458E		Q9UMG3_HUMAN,Q9UE82_HUMAN,Q9BWG0_HUMAN,G1UI33_HUMAN,E7ERA5_HUMAN,D3DTS1_HUMAN				MYH10,missense_variant,p.Ala1489Glu,ENST00000360416,NM_001256012.1;MYH10,missense_variant,p.Ala1479Glu,ENST00000396239,;MYH10,missense_variant,p.Ala1474Glu,ENST00000379980,NM_001256095.1;MYH10,missense_variant,p.Ala1458Glu,ENST00000269243,NM_005964.3;NDEL1,downstream_gene_variant,,ENST00000581679,;MYH10,downstream_gene_variant,,ENST00000488329,;							MODERATE	4373/5931	A1458E	MYH10_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000269243		CCDS11144.1			1	
RAB38	0	LGGM	GRCh37	11	87847178	87847178	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	60	4	.	.	ENST00000243662.6:c.614G>T	p.Cys205Phe	p.C205F	ENST00000243662	NM_022337.2	205	tGc/tTc	0	1	1	UPI000003F780	0	NA	ENST00000243662		ENSG00000123892	9776		64	0.695		HGNC	p.C205F		RAB38		SNV							ENST00000243662	protein_coding	getma.org/?cm=var&var=hg19,11,87847178,C,A&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF409,SMART_domains:SM00176		C/F		A	neutral	697/1465		getma.org/?cm=msa&ty=f&p=RAB38_HUMAN&rb=180&re=211&var=C205F	deleterious(0.04)				YES	RAB38,missense_variant,p.Cys205Phe,ENST00000243662,NM_022337.2;RAB38,missense_variant,p.Cys204Phe,ENST00000526372,;RAB38,3_prime_UTR_variant,,ENST00000531138,;RP11-164N3.3,intron_variant,,ENST00000528458,;							MODERATE	614/636	C205F	RAB38_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000243662		CCDS8281.1			1	
FSCB	0	LGGM	GRCh37	14	44974154	44974155	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	novel	by Submitter	H090745	H090745N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	13	10	.	.	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro	p.P679_A680insSEVQPPPAEEAP	ENST00000340446	NM_032135.3	679	cct/ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	0	1	1	UPI00001FD466	0		ENST00000340446		ENSG00000189139	20494		23			HGNC	p.P679delinsPSEVQPPPAEEAP	rs375198387	FSCB		insertion	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.3937						ENST00000340446	protein_coding			Low_complexity_(Seg):seg		P/PSEVQPPPAEEAP	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.4663	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG		2328-2329/2938							YES	FSCB,inframe_insertion,p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro,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,;							MODERATE	2036-2037/2478		FSCB_HUMAN			Transcript			.	ENSP00000344579		CCDS9679.1			1	
TMEM132D	0	LGGM	GRCh37	12	130184757	130184757	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	13	5	.	.	ENST00000422113.2:c.566T>C	p.Leu189Pro	p.L189P	ENST00000422113	NM_133448.2	189	cTg/cCg	0	1	1	UPI000023759C	0	NA	ENST00000422113		ENSG00000151952	29411		18	1.775		HGNC	p.L189P		TMEM132D		SNV							ENST00000422113	protein_coding	getma.org/?cm=var&var=hg19,12,130184757,A,G&fts=all		hmmpanther:PTHR13388		L/P		G	low	893/5776		getma.org/?cm=msa&ty=f&p=T132D_HUMAN&rb=25&re=1097&var=L189P	tolerated(0.2)				YES	TMEM132D,missense_variant,p.Leu189Pro,ENST00000422113,NM_133448.2;RP11-174M13.2,upstream_gene_variant,,ENST00000544036,;							MODERATE	566/3300	L189P	T132D_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000408581		CCDS9266.1			1	
MROH8	0	LGGM	GRCh37	20	35783477	35783477	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	76	5	.	.	ENST00000343811.4:c.1143C>G	p.Leu382Val	p.L382V	ENST00000343811	NM_152503.4	382	Ctc/Gtc	0	1	1	UPI0000E5A31D	0	NA	ENST00000343811		ENSG00000101353	16125		81	1.6		HGNC	p.L355V		MROH8		SNV							ENST00000400441	protein_coding	getma.org/?cm=var&var=hg19,20,35783477,G,C&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF4,Superfamily_domains:SSF48371		L/V		C	low	1143/3425		getma.org/?cm=msa&ty=f&p=H0Y3S5_HUMAN&rb=201&re=400&var=L386V	tolerated(0.14)	Q5JYR0_HUMAN,Q5JYQ9_HUMAN			YES	MROH8,missense_variant,p.Leu382Val,ENST00000343811,NM_152503.4;MROH8,missense_variant,p.Leu355Val,ENST00000400441,;MROH8,missense_variant,p.Leu341Val,ENST00000441008,;MROH8,missense_variant,p.Leu386Val,ENST00000400440,NM_213631.1;MROH8,intron_variant,,ENST00000217333,;MROH8,intron_variant,,ENST00000417458,;MROH8,intron_variant,,ENST00000421643,NM_213632.1;MROH8,downstream_gene_variant,,ENST00000422138,;MROH8,downstream_gene_variant,,ENST00000434295,;							MODERATE	1144/3210	L386V				Transcript		benign(0.278)	.	ENSP00000339971					1	
MUC4	0	LGGM	GRCh37	3	195508030	195508030	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	44	5	.	.	ENST00000463781.3:c.10421C>A	p.Pro3474His	p.P3474H	ENST00000463781	NM_018406.6	3474	cCt/cAt	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		49	0.55		HGNC	p.P3474H	rs200654296,rs540285531	MUC4	0.000137	SNV				0.00106			ENST00000480843	protein_coding	getma.org/?cm=var&var=hg19,3,195508030,G,T&fts=all	T:0.0212,T:0.0212	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		P/H		T	neutral	10881/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=P3474H		O75456_HUMAN,E9PDY6_HUMAN	T:0.0014,T:0.0014	T:0,T:0	YES	MUC4,missense_variant,p.Pro3474His,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro3474His,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro3474His,ENST00000478156,;MUC4,missense_variant,p.Pro3474His,ENST00000466475,;MUC4,missense_variant,p.Pro3474His,ENST00000477756,;MUC4,missense_variant,p.Pro3474His,ENST00000477086,;MUC4,missense_variant,p.Pro3474His,ENST00000480843,;MUC4,missense_variant,p.Pro3474His,ENST00000462323,;MUC4,missense_variant,p.Pro3474His,ENST00000470451,;MUC4,missense_variant,p.Pro3474His,ENST00000479406,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;		A:0.0070,T:0.0064					MODERATE	10421/16239	P3474H			T:0.001,T:0.001	Transcript		possibly_damaging(0.897)	common_variant	ENSP00000417498	5.07E-05	CCDS54700.1		T:0.002,T:0.002	1	
MTX1	0	LGGM	GRCh37	1	155182004	155182004	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	5	.	.	ENST00000368376.3:c.765G>A	p.Pro255=	p.P255=	ENST00000368376	NM_002455.3	255	ccG/ccA	0	1	1	UPI0000225CC9	0		ENST00000368376		ENSG00000173171	7504		20			HGNC	p.P255P	rs569313741	MTX1		SNV							ENST00000368376	protein_coding		A:0	Pfam_domain:PF11801,hmmpanther:PTHR12289,hmmpanther:PTHR12289:SF34		P		A		871/1632	1.53E-05				A:0	A:0.001	YES	MTX1,synonymous_variant,p.=,ENST00000368376,NM_002455.3;MTX1,synonymous_variant,p.=,ENST00000609421,;MTX1,intron_variant,,ENST00000316721,NM_198883.2;THBS3,upstream_gene_variant,,ENST00000368378,NM_007112.4,NM_001252607.1;THBS3,upstream_gene_variant,,ENST00000541990,;THBS3,upstream_gene_variant,,ENST00000457183,NM_001252608.1;RP11-263K19.6,intron_variant,,ENST00000455788,;MTX1,non_coding_transcript_exon_variant,,ENST00000495589,;GBAP1,downstream_gene_variant,,ENST00000486869,;GBAP1,downstream_gene_variant,,ENST00000368374,;THBS3,upstream_gene_variant,,ENST00000486260,;GBAP1,downstream_gene_variant,,ENST00000462587,;MTX1,missense_variant,p.Arg113Gln,ENST00000424959,;MTX1,non_coding_transcript_exon_variant,,ENST00000481771,;GBAP1,downstream_gene_variant,,ENST00000459805,;GBAP1,downstream_gene_variant,,ENST00000473223,;THBS3,upstream_gene_variant,,ENST00000428962,;GBAP1,downstream_gene_variant,,ENST00000486197,;GBAP1,downstream_gene_variant,,ENST00000463838,;MTX1,upstream_gene_variant,,ENST00000495492,;GBAP1,downstream_gene_variant,,ENST00000313929,;GBAP1,downstream_gene_variant,,ENST00000566701,;	0.000116	A:0.0002					LOW	765/1401		MTX1_HUMAN		A:0	Transcript			.	ENSP00000357360	1.65E-05	CCDS1100.1		A:0	1	
FEM1A	0	LGGM	GRCh37	19	4793248	4793248	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	56	5	.	.	ENST00000269856.3:c.1382T>C	p.Phe461Ser	p.F461S	ENST00000269856	NM_018708.2	461	tTt/tCt	0	1	1	UPI0000073096	0	NA	ENST00000269856		ENSG00000141965	16934		61	1.935		HGNC	p.F461S		FEM1A		SNV							ENST00000269856	protein_coding	getma.org/?cm=var&var=hg19,19,4793248,T,C&fts=all		hmmpanther:PTHR24173,hmmpanther:PTHR24173:SF12		F/S		C	medium	1521/3844		getma.org/?cm=msa&ty=f&p=FEM1A_HUMAN&rb=446&re=491&var=F461S	tolerated(0.08)				YES	FEM1A,missense_variant,p.Phe461Ser,ENST00000269856,NM_018708.2;AC005523.3,upstream_gene_variant,,ENST00000598782,;AC005523.2,non_coding_transcript_exon_variant,,ENST00000601192,;AC005523.2,downstream_gene_variant,,ENST00000596170,;							MODERATE	1382/2010	F461S	FEM1A_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000269856		CCDS12135.1			1	
MUC5B	0	LGGM	GRCh37	11	1281935	1281935	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	16	5	.	.	ENST00000529681.1:c.17046G>A	p.Glu5682=	p.E5682=	ENST00000529681	NM_002458.2	5682	gaG/gaA	0	1	1	UPI0001DD21C7	0		ENST00000529681		ENSG00000117983	7516		21			HGNC	p.E5685E		MUC5B		SNV			1				ENST00000447027	protein_coding			PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237,SMART_domains:SM00041		E		A		17104/17911				Q93043_HUMAN			YES	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;MUC5B,intron_variant,,ENST00000526859,;MUC5B,downstream_gene_variant,,ENST00000527802,;							LOW	17046/17289		MUC5B_HUMAN			Transcript			.	ENSP00000436812		CCDS44515.2			1	
OVCH2	0	LGGM	GRCh37	11	7713212	7713212	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	19	5	.	.	ENST00000454689.1:c.1428T>C	p.Ser476=	p.S476=	ENST00000454689	NM_198185.3	476	agT/agC	0	1	1	UPI00015294E3	0		ENST00000454689		ENSG00000183378	29970		24			HGNC	p.S476S		OVCH2		SNV							ENST00000454689	protein_coding			PROSITE_profiles:PS01180,hmmpanther:PTHR24251:SF16,hmmpanther:PTHR24251,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		S		G		1428/1695							YES	OVCH2,synonymous_variant,p.=,ENST00000454689,NM_198185.3;OVCH2,non_coding_transcript_exon_variant,,ENST00000533663,;OVCH2,downstream_gene_variant,,ENST00000534817,;OVCH2,synonymous_variant,p.=,ENST00000534193,;							LOW	1428/1695		OVCH2_HUMAN			Transcript			.	ENSP00000407158					1	
DLD	0	LGGM	GRCh37	7	107543937	107543937	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	23	5	.	.	ENST00000205402.5:c.282C>G	p.Asn94Lys	p.N94K	ENST00000205402	NM_000108.3	94	aaC/aaG	0	1	1	UPI0000072725	0	getma.org/pdb.php?prot=DLDH_HUMAN&from=43&to=361&var=N94K	ENST00000205402		ENSG00000091140	2898		28	3.28		HGNC	p.N94K		DLD		SNV			1				ENST00000450038	protein_coding	getma.org/?cm=var&var=hg19,7,107543937,C,G&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF20,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01350		N/K		G	medium	563/3755		getma.org/?cm=msa&ty=f&p=DLDH_HUMAN&rb=43&re=361&var=N94K	deleterious(0.01)	B4DHG0_HUMAN			YES	DLD,missense_variant,p.Asn94Lys,ENST00000205402,NM_000108.3;DLD,missense_variant,p.Asn71Lys,ENST00000440410,;DLD,missense_variant,p.Asn94Lys,ENST00000437604,;DLD,5_prime_UTR_variant,,ENST00000537148,;DLD,non_coding_transcript_exon_variant,,ENST00000494441,;DLD,non_coding_transcript_exon_variant,,ENST00000453354,;DLD,missense_variant,p.Asn94Lys,ENST00000417551,;DLD,missense_variant,p.Leu45Val,ENST00000415325,;DLD,missense_variant,p.Asn94Lys,ENST00000451081,;DLD,missense_variant,p.Asn94Lys,ENST00000450038,;DLD,non_coding_transcript_exon_variant,,ENST00000460577,;DLD,upstream_gene_variant,,ENST00000489184,;DLD,upstream_gene_variant,,ENST00000478414,;							MODERATE	282/1530	N94K	DLDH_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000205402		CCDS5749.1			1	
TRA2A	0	LGGM	GRCh37	7	23561439	23561439	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	28	6	.	.	ENST00000297071.4:c.57A>G	p.Lys19=	p.K19=	ENST00000297071	NM_013293.3	19	aaA/aaG	0	1	1	UPI00001372AB	0		ENST00000297071		ENSG00000164548	16645		34			HGNC	p.I46V		TRA2A		SNV							ENST00000448549	protein_coding			hmmpanther:PTHR15241,hmmpanther:PTHR15241:SF3		K		C		274/1845				Q549U1_HUMAN,B4DUA9_HUMAN			YES	TRA2A,synonymous_variant,p.=,ENST00000297071,NM_013293.3;TRA2A,5_prime_UTR_variant,,ENST00000392502,NM_001282759.1;TRA2A,5_prime_UTR_variant,,ENST00000538367,NM_001282757.1;TRA2A,non_coding_transcript_exon_variant,,ENST00000474586,;TRA2A,non_coding_transcript_exon_variant,,ENST00000490942,;TRA2A,missense_variant,p.Ile46Val,ENST00000448549,;TRA2A,non_coding_transcript_exon_variant,,ENST00000494255,;							LOW	57/849		TRA2A_HUMAN			Transcript			.	ENSP00000297071		CCDS5383.1			1	
AMHR2	0	LGGM	GRCh37	12	53823649	53823649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	14	6	.	.	ENST00000257863.4:c.1175T>C	p.Leu392Ser	p.L392S	ENST00000257863	NM_001164690.1	392	tTg/tCg	0	1	1	UPI0000125970	0	getma.org/pdb.php?prot=AMHR2_HUMAN&from=203&to=505&var=L392S	ENST00000257863		ENSG00000135409	465		20	2.97		HGNC	p.L89S		AMHR2		SNV			1				ENST00000550839	protein_coding	getma.org/?cm=var&var=hg19,12,53823649,T,C&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF037392,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF49,Superfamily_domains:SSF56112		L/S		C	medium	1255/1863		getma.org/?cm=msa&ty=f&p=AMHR2_HUMAN&rb=203&re=505&var=L392S	deleterious(0)	H3BPI9_HUMAN			YES	AMHR2,missense_variant,p.Leu392Ser,ENST00000257863,NM_001164690.1,NM_020547.2;AMHR2,missense_variant,p.Leu392Ser,ENST00000550311,;AMHR2,missense_variant,p.Leu89Ser,ENST00000550839,;AMHR2,intron_variant,,ENST00000379791,NM_001164691.1;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000553037,;AMHR2,downstream_gene_variant,,ENST00000548303,;							MODERATE	1175/1722	L392S	AMHR2_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000257863		CCDS8858.1			1	
TEX30	0	LGGM	GRCh37	13	103418751	103418751	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	28	6	.	.	ENST00000376032.4:c.684G>T	p.Ter228TyrextTer7	p.*228Yext*7	ENST00000376032	NM_138779.3	228	taG/taT	0	1	1	UPI0000070F4A	0		ENST00000376032		ENSG00000151287	25188		34			HGNC	p.X228Y		TEX30		SNV							ENST00000376032	protein_coding					*/Y		A		874/1165							YES	TEX30,stop_lost,p.Ter187TyrextTer7,ENST00000376019,;TEX30,stop_lost,p.Ter228TyrextTer7,ENST00000376032,NM_138779.3;TEX30,stop_lost,p.Ter187TyrextTer7,ENST00000376021,NM_001286776.1;TEX30,3_prime_UTR_variant,,ENST00000376027,;TEX30,3_prime_UTR_variant,,ENST00000376029,NM_001286775.1;TEX30,3_prime_UTR_variant,,ENST00000376022,;TEX30,downstream_gene_variant,,ENST00000487260,;							HIGH	684/684		TEX30_HUMAN			Transcript			.	ENSP00000365200		CCDS9503.2			1	
CENPB	0	LGGM	GRCh37	20	3766572	3766572	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	6	.	.	ENST00000379751.4:c.559G>T	p.Ala187Ser	p.A187S	ENST00000379751	NM_001810.5	187	Gcc/Tcc	0	1	1	UPI00001274F8	0	NA	ENST00000379751		ENSG00000125817	1852		21	0.505		HGNC	p.A187S		CENPB		SNV							ENST00000379751	protein_coding	getma.org/?cm=var&var=hg19,20,3766572,C,A&fts=all		Pfam_domain:PF03184,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF194		A/S		A	neutral	766/2840		getma.org/?cm=msa&ty=f&p=CENPB_HUMAN&rb=186&re=384&var=A187S	tolerated(0.25)	Q96EI4_HUMAN,Q71VN4_HUMAN,Q71VN3_HUMAN			YES	CENPB,missense_variant,p.Ala187Ser,ENST00000379751,NM_001810.5;CDC25B,upstream_gene_variant,,ENST00000344256,;CDC25B,upstream_gene_variant,,ENST00000379598,;SPEF1,upstream_gene_variant,,ENST00000379756,NM_015417.4;SPEF1,upstream_gene_variant,,ENST00000463490,;SPEF1,upstream_gene_variant,,ENST00000471499,;							MODERATE	559/1800	A187S	CENPB_HUMAN			Transcript		unknown(0)	.	ENSP00000369075		CCDS13064.1			1	
CHD8	0	LGGM	GRCh37	14	21871733	21871733	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	57	6	.	.	ENST00000399982.2:c.3397G>A	p.Gly1133Ser	p.G1133S	ENST00000399982	NM_001170629.1	1133	Ggc/Agc	0	1	1	UPI00002375B9	0	getma.org/pdb.php?prot=CHD8_HUMAN&from=1102&to=1166&var=G1133S	ENST00000399982		ENSG00000100888	20153		63	3.05		HGNC	p.G854S		CHD8		SNV			1				ENST00000430710	protein_coding	getma.org/?cm=var&var=hg19,14,21871733,C,T&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Superfamily_domains:SSF52540		G/S		T	medium	3462/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1102&re=1166&var=G1133S	deleterious(0.02)				YES	CHD8,missense_variant,p.Gly1133Ser,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Gly1133Ser,ENST00000557364,;CHD8,missense_variant,p.Gly854Ser,ENST00000430710,NM_020920.3;CHD8,missense_variant,p.Gly359Ser,ENST00000555935,;CHD8,intron_variant,,ENST00000555962,;CHD8,downstream_gene_variant,,ENST00000554384,;RP11-689J19.1,downstream_gene_variant,,ENST00000480068,;							MODERATE	3397/7746	G1133S	CHD8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000382863		CCDS53885.1			1	
NFATC2	0	LGGM	GRCh37	20	50090577	50090577	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	44	6	.	.	ENST00000396009.3:c.1648A>T	p.Ile550Phe	p.I550F	ENST00000396009	NM_001258297.1	550	Atc/Ttc	0	1	1	UPI0000167D0F	0	getma.org/pdb.php?prot=NFAC2_HUMAN&from=410&to=570&var=I550F	ENST00000396009		ENSG00000101096	7776		50	2.67		HGNC	p.I550F		NFATC2		SNV							ENST00000396009	protein_coding	getma.org/?cm=var&var=hg19,20,50090577,T,A&fts=all		Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533,PROSITE_profiles:PS50254		I/F		A	medium	1868/7437		getma.org/?cm=msa&ty=f&p=NFAC2_HUMAN&rb=410&re=570&var=I550F	deleterious(0)	B5B2P4_HUMAN,B5B2P3_HUMAN			YES	NFATC2,missense_variant,p.Ile550Phe,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,missense_variant,p.Ile550Phe,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,missense_variant,p.Ile530Phe,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,missense_variant,p.Ile530Phe,ENST00000414705,;NFATC2,missense_variant,p.Ile331Phe,ENST00000610033,;NFATC2,missense_variant,p.Ile331Phe,ENST00000609507,NM_001258294.1;							MODERATE	1648/2778	I550F	NFAC2_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000379330		CCDS13437.1			1	
HPS6	0	LGGM	GRCh37	10	103826661	103826661	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	16	6	.	.	ENST00000299238.5:c.1430A>G	p.Asp477Gly	p.D477G	ENST00000299238	NM_024747.5	477	gAt/gGt	0	1	1	UPI000000D7EB	0	NA	ENST00000299238		ENSG00000166189	18817		22	0.41		HGNC	p.D477G		HPS6		SNV			1				ENST00000299238	protein_coding	getma.org/?cm=var&var=hg19,10,103826661,A,G&fts=all		hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476		D/G		G	neutral	1515/2646		getma.org/?cm=msa&ty=f&p=HPS6_HUMAN&rb=1&re=771&var=D477G	tolerated(0.11)				YES	HPS6,missense_variant,p.Asp477Gly,ENST00000299238,NM_024747.5;							MODERATE	1430/2328	D477G	HPS6_HUMAN			Transcript		benign(0.004)	.	ENSP00000299238		CCDS7527.1			1	
KLHL10	0	LGGM	GRCh37	17	39994291	39994291	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	19	6	.	.	ENST00000293303.4:c.107G>T	p.Gly36Val	p.G36V	ENST00000293303	NM_152467.3	36	gGc/gTc	0	1	1	UPI000013E0FA	0	getma.org/pdb.php?prot=KLH10_HUMAN&from=29&to=136&var=G36V	ENST00000293303		ENSG00000161594	18829		25	2.785		HGNC	p.G36V		KLHL10		SNV			1				ENST00000438813	protein_coding	getma.org/?cm=var&var=hg19,17,39994291,G,T&fts=all		hmmpanther:PTHR24412:SF165,hmmpanther:PTHR24412,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695		G/V		T	medium	260/2057		getma.org/?cm=msa&ty=f&p=KLH10_HUMAN&rb=29&re=136&var=G36V	tolerated(0.08)	C9J999_HUMAN,B4DX37_HUMAN			YES	KLHL10,missense_variant,p.Gly36Val,ENST00000293303,NM_152467.3;KLHL10,missense_variant,p.Gly36Val,ENST00000448203,;KLHL10,missense_variant,p.Gly36Val,ENST00000438813,;NT5C3B,upstream_gene_variant,,ENST00000269534,NM_052935.4;NT5C3B,upstream_gene_variant,,ENST00000521789,;NT5C3B,upstream_gene_variant,,ENST00000435506,;NT5C3B,upstream_gene_variant,,ENST00000415460,;RN7SL871P,upstream_gene_variant,,ENST00000583512,;KLHL10,non_coding_transcript_exon_variant,,ENST00000485613,;NT5C3B,upstream_gene_variant,,ENST00000470690,;NT5C3B,upstream_gene_variant,,ENST00000469698,;NT5C3B,upstream_gene_variant,,ENST00000523903,;NT5C3B,upstream_gene_variant,,ENST00000393910,;NT5C3B,upstream_gene_variant,,ENST00000476921,;NT5C3B,upstream_gene_variant,,ENST00000460893,;NT5C3B,upstream_gene_variant,,ENST00000445655,;NT5C3B,upstream_gene_variant,,ENST00000495317,;NT5C3B,upstream_gene_variant,,ENST00000475053,;NT5C3B,upstream_gene_variant,,ENST00000520442,;							MODERATE	107/1827	G36V	KLH10_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000293303		CCDS42340.1			1	
BAZ1A	0	LGGM	GRCh37	14	35270300	35270300	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	17	6	.	.	ENST00000360310.1:c.961G>C	p.Ala321Pro	p.A321P	ENST00000360310	NM_013448.2	321	Gct/Cct	0	1	1	UPI00001584D3	0	NA	ENST00000360310		ENSG00000198604	960		23	1.1		HGNC	p.A321P		BAZ1A		SNV							ENST00000360310	protein_coding	getma.org/?cm=var&var=hg19,14,35270300,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145		A/P		G	low	1529/6010		getma.org/?cm=msa&ty=f&p=BAZ1A_HUMAN&rb=123&re=322&var=A321P	deleterious(0.03)	D3DS96_HUMAN			YES	BAZ1A,missense_variant,p.Ala321Pro,ENST00000360310,NM_013448.2;BAZ1A,missense_variant,p.Ala321Pro,ENST00000358716,NM_182648.1;BAZ1A,missense_variant,p.Ala321Pro,ENST00000382422,;AL355885.1,downstream_gene_variant,,ENST00000581314,;							MODERATE	961/4671	A321P	BAZ1A_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000353458		CCDS9651.1			1	
RBBP5	0	LGGM	GRCh37	1	205065896	205065896	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	86	6	.	.	ENST00000264515.6:c.1310A>G	p.Lys437Arg	p.K437R	ENST00000264515	NM_001193273.1	437	aAg/aGg	0	1	1	UPI00001A9CA5	0	NA	ENST00000264515		ENSG00000117222	9888		92	1.525		HGNC	p.K437R		RBBP5		SNV							ENST00000367164	protein_coding	getma.org/?cm=var&var=hg19,1,205065896,T,C&fts=all		hmmpanther:PTHR12816		K/R		C	low	1452/4404	4.50E-05	getma.org/?cm=msa&ty=f&p=RBBP5_HUMAN&rb=295&re=494&var=K437R	tolerated(0.31)				YES	RBBP5,missense_variant,p.Lys437Arg,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,missense_variant,p.Lys437Arg,ENST00000367164,NM_001193272.1;RP11-536L3.4,downstream_gene_variant,,ENST00000603227,;							MODERATE	1310/1617	K437R	RBBP5_HUMAN			Transcript		benign(0.001)	.	ENSP00000264515	2.47E-05	CCDS30983.1			1	
FAM193A	0	LGGM	GRCh37	4	2664601	2664601	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	46	6	.	.	ENST00000324666.5:c.909C>G	p.Ala303=	p.A303=	ENST00000324666	NM_001256666.1	303	gcC/gcG	0	1	1	UPI0000551BCA	0		ENST00000324666		ENSG00000125386	16822		52			HGNC	p.A303A		FAM193A		SNV							ENST00000324666	protein_coding			hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109		A		G		1260/4846				E7EUR8_HUMAN,D6R990_HUMAN			YES	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,;							LOW	909/3798		F193A_HUMAN			Transcript			.	ENSP00000324587		CCDS58875.1			1	
TMF1	0	LGGM	GRCh37	3	69072395	69072395	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	22	6	.	.	ENST00000398559.2:c.3215A>G	p.Asp1072Gly	p.D1072G	ENST00000398559		1072	gAt/gGt	0	1	1	UPI000013D9A7	0	NA	ENST00000398559		ENSG00000144747	11870		28	3.035		HGNC	p.D1075G		TMF1		SNV							ENST00000543976	protein_coding	getma.org/?cm=var&var=hg19,3,69072395,T,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF12325,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF285,Low_complexity_(Seg):seg		D/G		C	medium	3432/6849		getma.org/?cm=msa&ty=f&p=TMF1_HUMAN&rb=968&re=1088&var=D1072G	deleterious(0)				YES	TMF1,missense_variant,p.Asp1075Gly,ENST00000543976,NM_007114.2;TMF1,missense_variant,p.Asp1072Gly,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,downstream_gene_variant,,ENST00000489370,;TMF1,3_prime_UTR_variant,,ENST00000488010,;							MODERATE	3215/3282	D1072G	TMF1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381567		CCDS43105.1			1	
OR10AD1	0	LGGM	GRCh37	12	48596789	48596789	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	7	.	.	ENST00000310248.2:c.287T>C	p.Val96Ala	p.V96A	ENST00000310248	NM_001004134.1	96	gTa/gCa	0	1	1	UPI0000041ECE	0	getma.org/pdb.php?prot=O10AD_HUMAN&from=1&to=139&var=V96A	ENST00000310248		ENSG00000172640	14819		22	0.005		HGNC	p.V96A	rs776291249	OR10AD1		SNV							ENST00000310248	protein_coding	getma.org/?cm=var&var=hg19,12,48596789,A,G&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF215,Superfamily_domains:SSF81321		V/A		G	neutral	382/1090		getma.org/?cm=msa&ty=f&p=O10AD_HUMAN&rb=1&re=139&var=V96A	tolerated(1)				YES	OR10AD1,missense_variant,p.Val96Ala,ENST00000310248,NM_001004134.1;DKFZP779L1853,downstream_gene_variant,,ENST00000595310,;							MODERATE	287/954	V96A	O10AD_HUMAN	0.000152		Transcript		benign(0.002)	.	ENSP00000308689	8.24E-06	CCDS31787.1			1	
MAP3K11	0	LGGM	GRCh37	11	65375131	65375131	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	17	7	.	.	ENST00000309100.3:c.1226A>T	p.Glu409Val	p.E409V	ENST00000309100	NM_002419.3	409	gAg/gTg	0	1	1	UPI0000049BF7	0	NA	ENST00000309100		ENSG00000173327	6850		24	1.73		HGNC	p.E409V		MAP3K11		SNV							ENST00000309100	protein_coding	getma.org/?cm=var&var=hg19,11,65375131,T,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF329,PIRSF_domain:PIRSF000556		E/V		A	low	1712/3566		getma.org/?cm=msa&ty=f&p=M3K11_HUMAN&rb=397&re=845&var=E409V	deleterious(0)	E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN			YES	MAP3K11,missense_variant,p.Glu409Val,ENST00000309100,NM_002419.3;MAP3K11,missense_variant,p.Glu152Val,ENST00000530153,;MAP3K11,upstream_gene_variant,,ENST00000532507,;MAP3K11,downstream_gene_variant,,ENST00000526293,;MAP3K11,downstream_gene_variant,,ENST00000529839,;MAP3K11,upstream_gene_variant,,ENST00000534432,;MAP3K11,synonymous_variant,p.=,ENST00000524848,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000524856,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000533032,;MAP3K11,downstream_gene_variant,,ENST00000527304,;MAP3K11,downstream_gene_variant,,ENST00000534110,;MAP3K11,upstream_gene_variant,,ENST00000526647,;MAP3K11,downstream_gene_variant,,ENST00000530949,;							MODERATE	1226/2544	E409V	M3K11_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000309597		CCDS8107.1			1	
HIVEP3	0	LGGM	GRCh37	1	42048678	42048678	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	34	7	.	.	ENST00000372583.1:c.1791G>T	p.Leu597Phe	p.L597F	ENST00000372583	NM_024503.4	597	ttG/ttT	0	1		UPI000013CC24	0	NA	ENST00000247584		ENSG00000127124	13561		41	2.08		HGNC	p.L597F		HIVEP3		SNV							ENST00000372584	protein_coding	getma.org/?cm=var&var=hg19,1,42048678,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233		L/F		A	medium	2597/8465		getma.org/?cm=msa&ty=f&p=ZEP3_HUMAN&rb=371&re=729&var=L597F						HIVEP3,missense_variant,p.Leu597Phe,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Leu597Phe,ENST00000372583,NM_024503.4;HIVEP3,missense_variant,p.Leu597Phe,ENST00000247584,;HIVEP3,missense_variant,p.Leu597Phe,ENST00000429157,;HIVEP3,upstream_gene_variant,,ENST00000460604,;							MODERATE	1791/7221	L597F	ZEP3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000247584		CCDS463.1			1	
SALL2	0	LGGM	GRCh37	14	21991046	21991046	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	21	7	.	.	ENST00000327430.3:c.2816T>C	p.Leu939Pro	p.L939P	ENST00000327430	NM_005407.1	939	cTc/cCc	0	1	1	UPI00001AF54D	0	getma.org/pdb.php?prot=SALL2_HUMAN&from=925&to=951&var=L939P	ENST00000327430		ENSG00000165821	10526		28	-0.485		HGNC	p.L939P		SALL2		SNV			1				ENST00000327430	protein_coding	getma.org/?cm=var&var=hg19,14,21991046,A,G&fts=all		hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		L/P		G	neutral	3111/4925		getma.org/?cm=msa&ty=f&p=SALL2_HUMAN&rb=905&re=971&var=L939P	deleterious_low_confidence(0)	F5H1G6_HUMAN			YES	SALL2,missense_variant,p.Leu939Pro,ENST00000327430,NM_005407.1;SALL2,missense_variant,p.Leu802Pro,ENST00000450879,;SALL2,missense_variant,p.Leu798Pro,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,;							MODERATE	2816/3024	L939P	SALL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333537		CCDS32045.1			1	
C14orf39	0	LGGM	GRCh37	14	60945058	60945058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	24	7	.	.	ENST00000321731.3:c.283G>A	p.Asp95Asn	p.D95N	ENST00000321731	NM_174978.2	95	Gac/Aac	0	1	1	UPI0000140C15	0	NA	ENST00000321731		ENSG00000179008	19849		31	1.445		HGNC	p.D66N		C14orf39		SNV							ENST00000555476	protein_coding	getma.org/?cm=var&var=hg19,14,60945058,C,T&fts=all				D/N		T	low	443/2813		getma.org/?cm=msa&ty=f&p=S6OS1_HUMAN&rb=1&re=585&var=D95N	tolerated(1)	G3V493_HUMAN,G3V3U9_HUMAN			YES	C14orf39,missense_variant,p.Asp95Asn,ENST00000321731,NM_174978.2;C14orf39,missense_variant,p.Asp66Asn,ENST00000555476,;C14orf39,downstream_gene_variant,,ENST00000556799,;C14orf39,intron_variant,,ENST00000557138,;							MODERATE	283/1764	D95N	S6OS1_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000324920		CCDS9746.1			1	
GPRIN3	0	LGGM	GRCh37	4	90169306	90169306	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	25	7	.	.	ENST00000609438.1:c.1956T>A	p.Ala652=	p.A652=	ENST00000609438	NM_198281.2	652	gcT/gcA	0	1		UPI00001C1E20	0		ENST00000333209		ENSG00000185477	27733		32			HGNC	p.A652A		GPRIN3		SNV							ENST00000333209	protein_coding			Pfam_domain:PF15235,hmmpanther:PTHR15718,hmmpanther:PTHR15718:SF2		A		T		3040/6260								GPRIN3,synonymous_variant,p.=,ENST00000609438,NM_198281.2;GPRIN3,synonymous_variant,p.=,ENST00000333209,;							LOW	1956/2331		GRIN3_HUMAN			Transcript			.	ENSP00000328672		CCDS34030.1			1	
NBPF12	0	LGGM	GRCh37	1	146398324	146398324	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	28	7	.	.	ENST00000442909.2:c.310C>T	p.Arg104Ter	p.R104*	ENST00000442909		104	Cga/Tga	0	1	1	UPI0001B798CE	0	NA	ENST00000442909		ENSG00000186275	24297	0.333	35	0		HGNC	p.R104X	rs782214784,COSM3801672,COSM3801673	NBPF12	0.135	SNV				0.0273		0,1,1	ENST00000446760	protein_coding	getma.org/?cm=var&var=hg19,1,146398324,C,T&fts=all		Coiled-coils_(Ncoils):Coil		R/*		T	NA	1146/12455	0.112	NA		S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN,F8WEX1_HUMAN,F5GXN6_HUMAN			YES	NBPF12,stop_gained,p.Arg104Ter,ENST00000442909,;NBPF12,stop_gained,p.Arg104Ter,ENST00000446760,;NBPF12,stop_gained,p.Arg29Ter,ENST00000309471,;	0.267				0,1,1		HIGH	310/9996	R104*	NBPFC_HUMAN	0.0837		Transcript			common_variant	ENSP00000391116	0.0482		0.0821		1	
LRRK1	0	LGGM	GRCh37	15	101593485	101593485	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	16	7	.	.	ENST00000388948.3:c.3914G>A	p.Arg1305Gln	p.R1305Q	ENST00000388948	NM_024652.3	1305	cGg/cAg	0	1	1	UPI0000D4FE63	0	getma.org/pdb.php?prot=LRRK1_HUMAN&from=1243&to=1520&var=R1305Q	ENST00000388948		ENSG00000154237	18608		23	1.285		HGNC	p.R1305Q		LRRK1		SNV							ENST00000388948	protein_coding	getma.org/?cm=var&var=hg19,15,101593485,G,A&fts=all		PROSITE_profiles:PS50011,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/Q		A	low	4273/7671		getma.org/?cm=msa&ty=f&p=LRRK1_HUMAN&rb=1243&re=1520&var=R1305Q	deleterious(0)	E9PMK9_HUMAN,E9PLF8_HUMAN,E9PK39_HUMAN,B3KSX5_HUMAN			YES	LRRK1,missense_variant,p.Arg1302Gln,ENST00000284395,;LRRK1,missense_variant,p.Arg1305Gln,ENST00000388948,NM_024652.3;RP11-505E24.2,intron_variant,,ENST00000559857,;RP11-505E24.3,upstream_gene_variant,,ENST00000558979,;LRRK1,upstream_gene_variant,,ENST00000525395,;LRRK1,3_prime_UTR_variant,,ENST00000525284,;LRRK1,3_prime_UTR_variant,,ENST00000531270,;LRRK1,upstream_gene_variant,,ENST00000526457,;							MODERATE	3914/6048	R1305Q	LRRK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000373600		CCDS42086.1			1	
OR2G3	0	LGGM	GRCh37	1	247769695	247769695	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	18	8	.	.	ENST00000320002.2:c.808C>T	p.Gln270Ter	p.Q270*	ENST00000320002	NM_001001914.1	270	Caa/Taa	0	1	1	UPI0000041CD9	0	NA	ENST00000320002		ENSG00000177476	15008		26	0		HGNC	p.Q270X		OR2G3		SNV							ENST00000320002	protein_coding	getma.org/?cm=var&var=hg19,1,247769695,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Q/*		T	NA	840/983		NA					YES	OR2G3,stop_gained,p.Gln270Ter,ENST00000320002,NM_001001914.1;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;							HIGH	808/930	Q270*	OR2G3_HUMAN			Transcript			.	ENSP00000326301		CCDS31093.1			1	
RHOJ	0	LGGM	GRCh37	14	63671704	63671704	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	20	8	.	.	ENST00000316754.3:c.117G>A	p.Met39Ile	p.M39I	ENST00000316754	NM_020663.4	39	atG/atA	0	1	1	UPI0000133894	0	getma.org/pdb.php?prot=RHOJ_HUMAN&from=23&to=196&var=M39I	ENST00000316754		ENSG00000126785	688		28	-0.85		HGNC	p.M39I		RHOJ		SNV							ENST00000316754	protein_coding	getma.org/?cm=var&var=hg19,14,63671704,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF17,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		M/I		A	neutral	579/3302		getma.org/?cm=msa&ty=f&p=RHOJ_HUMAN&rb=23&re=196&var=M39I	tolerated(1)				YES	RHOJ,missense_variant,p.Met39Ile,ENST00000316754,NM_020663.4;RHOJ,missense_variant,p.Met39Ile,ENST00000555125,;RHOJ,non_coding_transcript_exon_variant,,ENST00000557133,;RHOJ,missense_variant,p.Met39Ile,ENST00000557447,;							MODERATE	117/645	M39I	RHOJ_HUMAN			Transcript		possibly_damaging(0.523)	.	ENSP00000316729		CCDS9757.1			1	
DNAH7	0	LGGM	GRCh37	2	196786877	196786877	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	18	8	.	.	ENST00000312428.6:c.3870T>C	p.Tyr1290=	p.Y1290=	ENST00000312428	NM_018897.2	1290	taT/taC	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		26			HGNC	p.Y1290Y	rs374968802	DNAH7		SNV	G:0.0003			0.000102			ENST00000312428	protein_coding			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12774		Y	G:0	G		3971/12394				C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;							LOW	3870/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273	8.28E-06	CCDS42794.1			1	
PSG1	0	LGGM	GRCh37	19	43383712	43383712	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	53	8	.	.	ENST00000244296.2:c.22C>T	p.Pro8Ser	p.P8S	ENST00000244296	NM_006905.2	8	Ccc/Tcc	0	1		UPI000013279D	0	NA	ENST00000436291		ENSG00000231924	9514		61	0.535		HGNC	p.P8S		PSG1		SNV							ENST00000436291	protein_coding	getma.org/?cm=var&var=hg19,19,43383712,G,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955		P/S		A	neutral	139/2047		getma.org/?cm=msa&ty=f&p=PSG1_HUMAN&rb=1&re=32&var=P8S	tolerated(0.14)	Q9UMI0_HUMAN,M0QY44_HUMAN				PSG1,missense_variant,p.Pro8Ser,ENST00000244296,NM_006905.2;PSG1,missense_variant,p.Pro8Ser,ENST00000436291,NM_001184826.1,NM_001184825.1;PSG1,missense_variant,p.Pro8Ser,ENST00000595356,;PSG1,missense_variant,p.Pro8Ser,ENST00000312439,;PSG1,missense_variant,p.Pro8Ser,ENST00000403380,;PSG1,missense_variant,p.Pro8Ser,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,;							MODERATE	22/1260	P8S	PSG1_HUMAN			Transcript		benign(0.019)	.	ENSP00000413041		CCDS54275.1			1	
DIAPH3	0	LGGM	GRCh37	13	60566214	60566214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	31	8	.	.	ENST00000400324.4:c.1232G>T	p.Arg411Ile	p.R411I	ENST00000400324	NM_001042517.1	411	aGa/aTa	0	1	1	UPI0000DAC774	0	getma.org/pdb.php?prot=DIAP3_HUMAN&from=302&to=495&var=R411I	ENST00000400324		ENSG00000139734	15480		39	2.97		HGNC	p.R341I		DIAPH3		SNV			1				ENST00000400319	protein_coding	getma.org/?cm=var&var=hg19,13,60566214,C,A&fts=all		Pfam_domain:PF06367,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Superfamily_domains:SSF48371		R/I		A	medium	1453/4804		getma.org/?cm=msa&ty=f&p=DIAP3_HUMAN&rb=302&re=495&var=R411I	deleterious(0)				YES	DIAPH3,missense_variant,p.Arg411Ile,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Arg411Ile,ENST00000400330,;DIAPH3,missense_variant,p.Arg400Ile,ENST00000377908,;DIAPH3,missense_variant,p.Arg411Ile,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Arg365Ile,ENST00000400320,NM_001258367.1;DIAPH3,missense_variant,p.Arg341Ile,ENST00000400319,NM_001258368.1;DIAPH3,non_coding_transcript_exon_variant,,ENST00000465066,;DIAPH3,non_coding_transcript_exon_variant,,ENST00000498416,;							MODERATE	1232/3582	R411I	DIAP3_HUMAN			Transcript		benign(0.338)	.	ENSP00000383178		CCDS41898.1			1	
KLK8	0	LGGM	GRCh37	19	51503311	51503311	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	18	8	.	.	ENST00000391806.2:c.569G>T	p.Cys190Phe	p.C190F	ENST00000391806		190	tGc/tTc	0	1		UPI000003751A	0	getma.org/pdb.php?prot=KLK8_HUMAN&from=33&to=252&var=C145F	ENST00000600767		ENSG00000129455	6369		26	1.18		HGNC	p.C190F		KLK8		SNV							ENST00000391806	protein_coding	getma.org/?cm=var&var=hg19,19,51503311,C,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF7,hmmpanther:PTHR24275,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		C/F		A	low	924/1324		getma.org/?cm=msa&ty=f&p=KLK8_HUMAN&rb=33&re=252&var=C145F	deleterious(0)	Q2XQG5_HUMAN,M0R231_HUMAN,B3FQ94_HUMAN				KLK8,missense_variant,p.Cys145Phe,ENST00000600767,;KLK8,missense_variant,p.Cys190Phe,ENST00000391806,;KLK8,missense_variant,p.Cys145Phe,ENST00000291726,NM_001281431.1,NM_007196.3,NM_144505.2;KLK8,intron_variant,,ENST00000347619,NM_144506.2;KLK8,intron_variant,,ENST00000320838,NM_144507.2;KLK8,intron_variant,,ENST00000593490,;KLK9,downstream_gene_variant,,ENST00000376832,NM_012315.1;KLK9,downstream_gene_variant,,ENST00000594211,;KLK8,downstream_gene_variant,,ENST00000595238,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK8,upstream_gene_variant,,ENST00000598195,;KLK8,3_prime_UTR_variant,,ENST00000594669,;KLK9,intron_variant,,ENST00000599166,;KLK9,downstream_gene_variant,,ENST00000250366,NM_012315.1;KLK9,downstream_gene_variant,,ENST00000544410,;KLK8,downstream_gene_variant,,ENST00000599710,;KLK8,upstream_gene_variant,,ENST00000594914,;							MODERATE	434/783	C145F	KLK8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000472016		CCDS12813.1			1	
FAM46C	0	LGGM	GRCh37	1	118165932	118165932	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	34	8	.	.	ENST00000369448.3:c.442G>A	p.Asp148Asn	p.D148N	ENST00000369448	NM_017709.3	148	Gac/Aac	0	1	1	UPI0000070C6C	0	NA	ENST00000369448		ENSG00000183508	24712		42	1.955		HGNC	p.D148N		FAM46C		SNV							ENST00000369448	protein_coding	getma.org/?cm=var&var=hg19,1,118165932,G,A&fts=all		Pfam_domain:PF07984,hmmpanther:PTHR12974,hmmpanther:PTHR12974:SF34		D/N		A	medium	689/5751		getma.org/?cm=msa&ty=f&p=FA46C_HUMAN&rb=17&re=336&var=D148N	deleterious(0.04)				YES	FAM46C,missense_variant,p.Asp148Asn,ENST00000369448,NM_017709.3;							MODERATE	442/1176	D148N	FA46C_HUMAN			Transcript		benign(0.308)	.	ENSP00000358458		CCDS896.1			1	
MEIS2	0	LGGM	GRCh37	15	37188860	37188860	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	35	9	.	.	ENST00000561208.1:c.1005A>G	p.Val335=	p.V335=	ENST00000561208		335	gtA/gtG	0	1	1	UPI000012EEBC	0		ENST00000561208		ENSG00000134138	7001		44			HGNC	p.V247V		MEIS2		SNV			1				ENST00000397620	protein_coding			PROSITE_profiles:PS50071,hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689		V		C		1424/4818				H0YKN2_HUMAN,H0YKE5_HUMAN			YES	MEIS2,synonymous_variant,p.=,ENST00000338564,NM_001220482.1;MEIS2,synonymous_variant,p.=,ENST00000561208,;MEIS2,synonymous_variant,p.=,ENST00000444725,NM_170677.4,NM_170674.4;MEIS2,synonymous_variant,p.=,ENST00000382766,NM_170676.4,NM_170675.4;MEIS2,synonymous_variant,p.=,ENST00000340545,NM_002399.3;MEIS2,synonymous_variant,p.=,ENST00000424352,;MEIS2,synonymous_variant,p.=,ENST00000397624,;MEIS2,synonymous_variant,p.=,ENST00000557796,;MEIS2,synonymous_variant,p.=,ENST00000559085,NM_172315.2;MEIS2,synonymous_variant,p.=,ENST00000219869,;MEIS2,synonymous_variant,p.=,ENST00000397620,NM_172316.2;MEIS2,synonymous_variant,p.=,ENST00000559561,;MEIS2,synonymous_variant,p.=,ENST00000607277,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,;MEIS2,non_coding_transcript_exon_variant,,ENST00000558643,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561284,;MEIS2,intron_variant,,ENST00000559371,;MEIS2,upstream_gene_variant,,ENST00000561264,;MEIS2,upstream_gene_variant,,ENST00000557992,;MEIS2,upstream_gene_variant,,ENST00000559972,;							LOW	1005/1434		MEIS2_HUMAN			Transcript			.	ENSP00000453793		CCDS10044.1			1	
PRAG1	0	LGGM	GRCh37	8	8185880	8185880	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	16	9	.	.	ENST00000520004.1:c.2412C>A	p.Pro804=	p.P804=	ENST00000520004		804	ccC/ccA	0	1	1	UPI00001D82A6	0		ENST00000520004		ENSG00000182319			25			Uniprot_gn	p.P804P		SGK223		SNV							ENST00000520004	protein_coding			hmmpanther:PTHR22972:SF3,hmmpanther:PTHR22972		P		T		2677/4891							YES	SGK223,synonymous_variant,p.=,ENST00000520004,;SGK223,synonymous_variant,p.=,ENST00000330777,NM_001080826.1;							LOW	2412/4209		SG223_HUMAN			Transcript			.	ENSP00000428054		CCDS43706.1			1	
SRPR	0	LGGM	GRCh37	11	126137526	126137526	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	27	9	.	.	ENST00000332118.6:c.283C>T	p.Arg95Cys	p.R95C	ENST00000332118	NM_003139.3	95	Cgc/Tgc	0	1	1	UPI0000135F5A	0	getma.org/pdb.php?prot=SRPR_HUMAN&from=26&to=303&var=R95C	ENST00000332118		ENSG00000182934	11307		36	1.78		HGNC	p.R67C	rs371309255	SRPR		SNV	A:0.0002			9.65E-05			ENST00000532259	protein_coding	getma.org/?cm=var&var=hg19,11,126137526,G,A&fts=all		Superfamily_domains:SSF64356,Pfam_domain:PF04086,hmmpanther:PTHR11564		R/C	A:0	A	low	438/3069		getma.org/?cm=msa&ty=f&p=SRPR_HUMAN&rb=26&re=303&var=R95C	deleterious(0)				YES	SRPR,missense_variant,p.Arg95Cys,ENST00000332118,NM_003139.3;SRPR,missense_variant,p.Arg67Cys,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,;SRPR,non_coding_transcript_exon_variant,,ENST00000530680,;FOXRED1,upstream_gene_variant,,ENST00000534011,;FOXRED1,upstream_gene_variant,,ENST00000533839,;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,;							MODERATE	283/1917	R95C	SRPR_HUMAN			Transcript		benign(0.006)	.	ENSP00000328023	8.24E-06	CCDS31717.1			1	
DCHS1	0	LGGM	GRCh37	11	6648056	6648056	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	15	9	.	.	ENST00000299441.3:c.6214A>G	p.Ser2072Gly	p.S2072G	ENST00000299441	NM_003737.2	2072	Agc/Ggc	0	1	1	UPI00001313B6	0	getma.org/pdb.php?prot=PCD16_HUMAN&from=2069&to=2171&var=S2072G	ENST00000299441		ENSG00000166341	13681	0.000174	24	1.27		HGNC	p.S2072G	rs761711744	DCHS1	0.000122	SNV			1				ENST00000299441	protein_coding	getma.org/?cm=var&var=hg19,11,6648056,T,C&fts=all		Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		S/G		C	low	6626/10763		getma.org/?cm=msa&ty=f&p=PCD16_HUMAN&rb=2069&re=2171&var=S2072G	deleterious(0.02)				YES	DCHS1,missense_variant,p.Ser2072Gly,ENST00000299441,NM_003737.2;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;							MODERATE	6214/9897	S2072G	PCD16_HUMAN			Transcript		benign(0.017)	.	ENSP00000299441	3.29E-05	CCDS7771.1			1	
GPR137C	0	LGGM	GRCh37	14	53020127	53020127	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	12	9	.	.	ENST00000321662.6:c.262C>T	p.Leu88Phe	p.L88F	ENST00000321662	NM_001099652.1	88	Ctc/Ttc	0	1	1	UPI0000043F5A	0	NA	ENST00000321662		ENSG00000180998	25445		21	2.02		HGNC	p.L88F		GPR137C		SNV							ENST00000321662	protein_coding	getma.org/?cm=var&var=hg19,14,53020127,C,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15146:SF1,hmmpanther:PTHR15146		L/F		T	medium	262/3888		getma.org/?cm=msa&ty=f&p=G137C_HUMAN&rb=1&re=427&var=L88F	deleterious(0.01)	B3KW22_HUMAN			YES	GPR137C,missense_variant,p.Leu88Phe,ENST00000321662,NM_001099652.1;GPR137C,missense_variant,p.Leu42Phe,ENST00000542169,;TXNDC16,upstream_gene_variant,,ENST00000281741,NM_020784.2,NM_001160047.1;GPR137C,upstream_gene_variant,,ENST00000555622,;TXNDC16,upstream_gene_variant,,ENST00000557374,;TXNDC16,upstream_gene_variant,,ENST00000554399,;							MODERATE	262/1290	L88F	G137C_HUMAN			Transcript		benign(0.341)	.	ENSP00000315106		CCDS45106.1			1	
FRAS1	0	LGGM	GRCh37	4	79291066	79291066	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	66	9	.	.	ENST00000264895.6:c.2797C>T	p.Leu933Phe	p.L933F	ENST00000264895	NM_025074.6	933	Ctc/Ttc	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		75	2.245		HGNC	p.L933F		FRAS1		SNV			1				ENST00000325942	protein_coding	getma.org/?cm=var&var=hg19,4,79291066,C,T&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Gene3D:2.10.220.10,SMART_domains:SM00261,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184		L/F		T	medium	3237/12479		getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=743&re=942&var=L933F		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Leu933Phe,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Leu933Phe,ENST00000325942,NM_001166133.1;							MODERATE	2797/12039	L933F	FRAS1_HUMAN			Transcript		benign(0.411)	.	ENSP00000264895		CCDS54771.1			1	
ZNF831	0	LGGM	GRCh37	20	57767937	57767937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	35	9	.	.	ENST00000371030.2:c.1863G>T	p.Gln621His	p.Q621H	ENST00000371030	NM_178457.2	621	caG/caT	0	1	1	UPI00001D82E4	0	NA	ENST00000371030		ENSG00000124203	16167		44	1.265		HGNC	p.Q621H		ZNF831		SNV							ENST00000371030	protein_coding	getma.org/?cm=var&var=hg19,20,57767937,G,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		Q/H		T	low	1863/9404		getma.org/?cm=msa&ty=f&p=ZN831_HUMAN&rb=232&re=650&var=Q621H	deleterious(0)				YES	ZNF831,missense_variant,p.Gln621His,ENST00000371030,NM_178457.2;							MODERATE	1863/5034	Q621H	ZN831_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000360069		CCDS42894.1			1	
MMEL1	0	LGGM	GRCh37	1	2530094	2530094	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	9	9	.	.	ENST00000378412.3:c.1177A>C	p.Arg393=	p.R393=	ENST00000378412		393	Agg/Cgg	0	1	1	UPI0000047596	0		ENST00000378412		ENSG00000142606	14668		18			HGNC	p.R236R		MMEL1		SNV			1				ENST00000502556	protein_coding			hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF112,Pfam_domain:PF05649,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		R		G		1339/2849							YES	MMEL1,splice_region_variant,p.=,ENST00000288709,NM_033467.3;MMEL1,splice_region_variant,p.=,ENST00000378412,;MMEL1,splice_region_variant,p.=,ENST00000502556,;MMEL1,splice_region_variant,p.=,ENST00000504800,;MMEL1,upstream_gene_variant,,ENST00000469962,;							LOW	1177/2340		MMEL1_HUMAN			Transcript			.	ENSP00000367668		CCDS30569.2			1	
LPCAT3	0	LGGM	GRCh37	12	7091020	7091020	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	16	9	.	.	ENST00000261407.4:c.412G>C	p.Asp138His	p.D138H	ENST00000261407	NM_005768.5	138	Gat/Cat	0	1	1	UPI0000034DFC	0	NA	ENST00000261407		ENSG00000111684	30244		25	2.795		HGNC	p.D138H		LPCAT3		SNV							ENST00000536797	protein_coding	getma.org/?cm=var&var=hg19,12,7091020,C,G&fts=all		Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF9		D/H		G	medium	498/2268		getma.org/?cm=msa&ty=f&p=MBOA5_HUMAN&rb=126&re=437&var=D138H	deleterious(0)	F5H0M4_HUMAN			YES	LPCAT3,missense_variant,p.Asp138His,ENST00000261407,NM_005768.5;U47924.30,downstream_gene_variant,,ENST00000606112,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000536971,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000539868,;LPCAT3,non_coding_transcript_exon_variant,,ENST00000545459,;EMG1,intron_variant,,ENST00000564245,;EMG1,intron_variant,,ENST00000539535,;LPCAT3,upstream_gene_variant,,ENST00000535021,;LPCAT3,upstream_gene_variant,,ENST00000540060,;LPCAT3,missense_variant,p.Asp138His,ENST00000535479,;LPCAT3,missense_variant,p.Asp138His,ENST00000536797,;LPCAT3,missense_variant,p.Asp138His,ENST00000543794,;LPCAT3,missense_variant,p.Arg66Pro,ENST00000540090,;LPCAT3,3_prime_UTR_variant,,ENST00000538910,;LPCAT3,upstream_gene_variant,,ENST00000537179,;LPCAT3,upstream_gene_variant,,ENST00000538987,;							MODERATE	412/1464	D138H	MBOA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261407		CCDS8572.1			1	
SERPINA3	0	LGGM	GRCh37	14	95080783	95080783	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	31	9	.	.	ENST00000467132.1:c.5A>G	p.Glu2Gly	p.E2G	ENST00000467132		2	gAg/gGg	0	1		UPI000012509B	0	NA	ENST00000393080		ENSG00000196136	16		40	0.55		HGNC	p.E2G		SERPINA3		SNV			1				ENST00000467132	protein_coding	getma.org/?cm=var&var=hg19,14,95080783,A,G&fts=all		Cleavage_site_(Signalp):SignalP-noTM		E/G		G	neutral	73/1581		getma.org/?cm=msa&ty=f&p=AACT_HUMAN&rb=1&re=50&var=E2G	deleterious(0)	G3V5I3_HUMAN,G3V3A0_HUMAN				SERPINA3,missense_variant,p.Glu2Gly,ENST00000467132,;SERPINA3,missense_variant,p.Glu2Gly,ENST00000393078,NM_001085.4;SERPINA3,missense_variant,p.Glu2Gly,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,missense_variant,p.Glu2Gly,ENST00000556968,;SERPINA3,synonymous_variant,p.=,ENST00000555820,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;							MODERATE	5/1272	E2G	AACT_HUMAN			Transcript		possibly_damaging(0.805)	.	ENSP00000376795		CCDS32150.1			1	
TXLNB	0	LGGM	GRCh37	6	139591652	139591652	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	24	10	.	.	ENST00000358430.3:c.628G>A	p.Ala210Thr	p.A210T	ENST00000358430	NM_153235.3	210	Gct/Act	0	1	1	UPI0000072983	0	NA	ENST00000358430		ENSG00000164440	21617		34	1.355		HGNC	p.A210T	rs779058859,COSM3858659	TXLNB		SNV						0,1	ENST00000358430	protein_coding	getma.org/?cm=var&var=hg19,6,139591652,C,T&fts=all		hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10,Pfam_domain:PF09728		A/T		T	low	861/4753	1.50E-05	getma.org/?cm=msa&ty=f&p=TXLNB_HUMAN&rb=139&re=451&var=A210T	deleterious(0.02)	H0UI60_HUMAN			YES	TXLNB,missense_variant,p.Ala210Thr,ENST00000358430,NM_153235.3;RP11-445F6.2,upstream_gene_variant,,ENST00000441249,;					0,1		MODERATE	628/2055	A210T	TXLNB_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000351206	8.24E-06	CCDS34545.1			1	
CCDC148	0	LGGM	GRCh37	2	159170274	159170274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	36	10	.	.	ENST00000283233.5:c.897T>A	p.His299Gln	p.H299Q	ENST00000283233	NM_138803.3	299	caT/caA	0	1	1	UPI0000208F63	0	NA	ENST00000283233		ENSG00000153237	25191		46	1.845		HGNC	p.H213Q		CCDC148		SNV							ENST00000536771	protein_coding	getma.org/?cm=var&var=hg19,2,159170274,A,T&fts=all		hmmpanther:PTHR21549:SF1,hmmpanther:PTHR21549		H/Q		T	low	1211/3122		getma.org/?cm=msa&ty=f&p=CC148_HUMAN&rb=7&re=382&var=H299Q	tolerated(0.54)				YES	CCDC148,missense_variant,p.His299Gln,ENST00000283233,NM_138803.3;CCDC148,missense_variant,p.His308Gln,ENST00000409187,;CCDC148,missense_variant,p.His213Gln,ENST00000536771,NM_001171637.1;CCDC148,3_prime_UTR_variant,,ENST00000454257,;CCDC148,3_prime_UTR_variant,,ENST00000448656,;CCDC148,3_prime_UTR_variant,,ENST00000451554,;CCDC148,3_prime_UTR_variant,,ENST00000417066,;							MODERATE	897/1776	H299Q	CC148_HUMAN			Transcript		benign(0)	.	ENSP00000283233		CCDS33304.1			1	
ROBO2	0	LGGM	GRCh37	3	77526717	77526717	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	33	10	.	.	ENST00000487694.3:c.589A>G	p.Ile197Val	p.I197V	ENST00000487694	NM_001128929.2	197	Ata/Gta	0	1		UPI00003A9322	0	getma.org/pdb.php?prot=ROBO2_HUMAN&from=133&to=221&var=I181V	ENST00000461745		ENSG00000185008	10250		43	0.08		HGNC	p.I181V		ROBO2		SNV			1				ENST00000332191	protein_coding	getma.org/?cm=var&var=hg19,3,77526717,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		I/V		G	neutral	1441/8946		getma.org/?cm=msa&ty=f&p=ROBO2_HUMAN&rb=133&re=221&var=I181V	deleterious(0.03)					ROBO2,missense_variant,p.Ile181Val,ENST00000461745,NM_002942.4;ROBO2,missense_variant,p.Ile197Val,ENST00000487694,NM_001128929.2;ROBO2,missense_variant,p.Ile181Val,ENST00000332191,;ROBO2,missense_variant,p.Ile197Val,ENST00000602589,;ROBO2,missense_variant,p.Ile181Val,ENST00000473767,;							MODERATE	541/4137	I181V	ROBO2_HUMAN			Transcript		benign(0.085)	.	ENSP00000417164		CCDS43109.1			1	
BRCA2	0	LGGM	GRCh37	13	32913603	32913603	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	37	11	.	.	ENST00000380152.3:c.5111G>T	p.Arg1704Ile	p.R1704I	ENST00000380152		1704	aGa/aTa	0	1		UPI00001FCBCC	0	NA	ENST00000380152		ENSG00000139618	1101		48	0.69		HGNC	p.R1704I		BRCA2		SNV			1				ENST00000544455	protein_coding	getma.org/?cm=var&var=hg19,13,32913603,G,T&fts=all		hmmpanther:PTHR11289,hmmpanther:PTHR11289:SF0,PIRSF_domain:PIRSF002397		R/I		T	neutral	5344/10930		getma.org/?cm=msa&ty=f&p=BRCA2_HUMAN&rb=1699&re=1836&var=R1704I	deleterious(0.01)	Q9H4L3_HUMAN,Q8IU82_HUMAN,Q8IU77_HUMAN,Q8IU64_HUMAN,K4K7W0_HUMAN,K4JXT6_HUMAN,K4JTT2_HUMAN,E9PIQ1_HUMAN				BRCA2,missense_variant,p.Arg1704Ile,ENST00000544455,NM_000059.3;BRCA2,missense_variant,p.Arg1704Ile,ENST00000380152,;							MODERATE	5111/10257	R1704I	BRCA2_HUMAN			Transcript		benign(0.32)	.	ENSP00000369497		CCDS9344.1			1	
TP53	0	LGGM	GRCh37	17	7578266	7578266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	9	11	.	.	ENST00000269305.4:c.583A>T	p.Ile195Phe	p.I195F	ENST00000269305	NM_001126112.2	195	Atc/Ttc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=I195F	ENST00000269305		ENSG00000141510	11998		20	2.735		HGNC	p.I195F	TP53_g.12652A>T,COSM44633,COSM129840,COSM129841,COSM129843,COSM3388199,COSM1731912,COSM129842	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578266,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		I/F		A	medium	773/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=I195F	deleterious(0)	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			YES	TP53,missense_variant,p.Ile195Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Ile195Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Ile195Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Ile195Phe,ENST00000445888,;TP53,missense_variant,p.Ile195Phe,ENST00000359597,;TP53,missense_variant,p.Ile195Phe,ENST00000413465,;TP53,missense_variant,p.Ile63Phe,ENST00000509690,;TP53,missense_variant,p.Ile102Phe,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,;					0,1,1,1,1,1,1,1		MODERATE	583/1182	I195F	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
TAAR5	0	LGGM	GRCh37	6	132910605	132910605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	42	12	.	.	ENST00000258034.2:c.221T>A	p.Leu74His	p.L74H	ENST00000258034	NM_003967.2	74	cTc/cAc	0	1	1	UPI000013CFAA	0	getma.org/pdb.php?prot=TAAR5_HUMAN&from=51&to=305&var=L74H	ENST00000258034		ENSG00000135569	30236		54	3.085		HGNC	p.L74H		TAAR5		SNV							ENST00000258034	protein_coding	getma.org/?cm=var&var=hg19,6,132910605,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF217,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/H		T	medium	273/1147		getma.org/?cm=msa&ty=f&p=TAAR5_HUMAN&rb=51&re=305&var=L74H	tolerated(0.21)				YES	TAAR5,missense_variant,p.Leu74His,ENST00000258034,NM_003967.2;TAAR4P,downstream_gene_variant,,ENST00000454843,;							MODERATE	221/1014	L74H	TAAR5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258034		CCDS5156.1			1	
SON	0	LGGM	GRCh37	21	34923588	34923588	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	30	12	.	.	ENST00000356577.4:c.2051A>G	p.Tyr684Cys	p.Y684C	ENST00000356577	NM_138927.2	684	tAt/tGt	0	1	1	UPI0000140BFD	0	NA	ENST00000356577		ENSG00000159140	11183		42	1.7		HGNC	p.Y684C		SON		SNV							ENST00000356577	protein_coding	getma.org/?cm=var&var=hg19,21,34923588,A,G&fts=all		hmmpanther:PTHR12813:SF26,hmmpanther:PTHR12813,Gene3D:2.130.10.10		Y/C		G	low	2526/8813		getma.org/?cm=msa&ty=f&p=SON_HUMAN&rb=673&re=1829&var=Y684C					YES	SON,missense_variant,p.Tyr684Cys,ENST00000356577,NM_138927.2;SON,missense_variant,p.Tyr684Cys,ENST00000290239,;SON,missense_variant,p.Tyr684Cys,ENST00000381679,;SON,missense_variant,p.Tyr684Cys,ENST00000300278,NM_032195.2;SON,intron_variant,,ENST00000381692,;SON,upstream_gene_variant,,ENST00000436227,;SON,upstream_gene_variant,,ENST00000421541,;SON,downstream_gene_variant,,ENST00000492229,;SON,missense_variant,p.Tyr684Cys,ENST00000455528,;SON,downstream_gene_variant,,ENST00000475072,;							MODERATE	2051/7281	Y684C	SON_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000348984		CCDS13629.1			1	
B3GALT5	0	LGGM	GRCh37	21	41032936	41032936	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	28	12	.	.	ENST00000380620.4:c.450G>A	p.Ala150=	p.A150=	ENST00000380620		150	gcG/gcA	0	1		UPI0000126713	0		ENST00000343118		ENSG00000183778	920	0.00026	40			HGNC	p.A150A	rs538924308	B3GALT5		SNV							ENST00000398714	protein_coding			Pfam_domain:PF01762,hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF18		A		A		727/2606	1.51E-05							B3GALT5,synonymous_variant,p.=,ENST00000380620,;B3GALT5,synonymous_variant,p.=,ENST00000380618,NM_033170.2,NM_006057.2,NM_001278650.1;B3GALT5,synonymous_variant,p.=,ENST00000343118,NM_033171.2;B3GALT5,synonymous_variant,p.=,ENST00000398714,NM_033172.2;AF064860.5,intron_variant,,ENST00000416555,;							LOW	450/933		B3GT5_HUMAN			Transcript			.	ENSP00000343318	3.29E-05	CCDS13667.1			1	
MMRN2	0	LGGM	GRCh37	10	88703573	88703573	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	16	12	.	.	ENST00000372027.5:c.968A>C	p.His323Pro	p.H323P	ENST00000372027	NM_024756.2	323	cAc/cCc	0	1	1	UPI000013F046	0	NA	ENST00000372027		ENSG00000173269	19888		28	1.935		HGNC	p.H323P		MMRN2		SNV							ENST00000372027	protein_coding	getma.org/?cm=var&var=hg19,10,88703573,T,G&fts=all		hmmpanther:PTHR15427,hmmpanther:PTHR15427:SF6		H/P		G	medium	1290/4375		getma.org/?cm=msa&ty=f&p=MMRN2_HUMAN&rb=132&re=821&var=H323P	tolerated(0.05)	R4GMY6_HUMAN			YES	MMRN2,missense_variant,p.His323Pro,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,;							MODERATE	968/2850	H323P	MMRN2_HUMAN			Transcript		benign(0.025)	.	ENSP00000361097		CCDS7379.1			1	
KIF26B	0	LGGM	GRCh37	1	245775192	245775192	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	23	13	.	.	ENST00000407071.2:c.2012G>A	p.Cys671Tyr	p.C671Y	ENST00000407071	NM_018012.3	671	tGt/tAt	0	1	1	UPI0000695D71	0	getma.org/pdb.php?prot=KI26B_HUMAN&from=462&to=801&var=C671Y	ENST00000407071		ENSG00000162849	25484		36	1.725		HGNC	p.C671Y		KIF26B		SNV							ENST00000407071	protein_coding	getma.org/?cm=var&var=hg19,1,245775192,G,A&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363,SMART_domains:SM00129,Superfamily_domains:SSF52540		C/Y		A	low	2452/7287		getma.org/?cm=msa&ty=f&p=KI26B_HUMAN&rb=462&re=801&var=C671Y	deleterious(0)	B4DF75_HUMAN			YES	KIF26B,missense_variant,p.Cys290Tyr,ENST00000366518,;KIF26B,missense_variant,p.Cys671Tyr,ENST00000407071,NM_018012.3;RP11-522M21.2,downstream_gene_variant,,ENST00000418402,;							MODERATE	2012/6327	C671Y	KI26B_HUMAN			Transcript		unknown(0)	.	ENSP00000385545		CCDS44342.1			1	
SEMA3A	0	LGGM	GRCh37	7	83764219	83764219	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	45	13	.	.	ENST00000265362.4:c.161G>A	p.Ser54Asn	p.S54N	ENST00000265362	NM_006080.2	54	aGc/aAc	0	1	1	UPI0000135A60	0	getma.org/pdb.php?prot=SEM3A_HUMAN&from=31&to=514&var=S54N	ENST00000265362		ENSG00000075213	10723		58	2.125		HGNC	p.S54N		SEMA3A		SNV			1				ENST00000420047	protein_coding	getma.org/?cm=var&var=hg19,7,83764219,C,T&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Superfamily_domains:SSF101912		S/N		T	medium	476/8225		getma.org/?cm=msa&ty=f&p=SEM3A_HUMAN&rb=31&re=514&var=S54N	tolerated(0.17)	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN			YES	SEMA3A,missense_variant,p.Ser54Asn,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Ser54Asn,ENST00000436949,;SEMA3A,missense_variant,p.Ser54Asn,ENST00000420047,;							MODERATE	161/2316	S54N	SEM3A_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000265362		CCDS5599.1			1	
OR13A1	0	LGGM	GRCh37	10	45799073	45799073	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	8	13	.	.	ENST00000553795.1:c.798G>A	p.Val266=	p.V266=	ENST00000553795	NM_001004297.2	266	gtG/gtA	0	1		UPI000003FE0F	0		ENST00000374401		ENSG00000256574	14772		21			HGNC	p.V266V		OR13A1		SNV							ENST00000553795	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF81,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		V		T		910/1177								OR13A1,synonymous_variant,p.=,ENST00000553795,NM_001004297.2;OR13A1,synonymous_variant,p.=,ENST00000536058,;OR13A1,synonymous_variant,p.=,ENST00000374401,;							LOW	798/987		O13A1_HUMAN			Transcript			.	ENSP00000363522		CCDS31188.1			1	
LMO1	0	LGGM	GRCh37	11	8251869	8251869	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	24	13	.	.	ENST00000335790.3:c.208A>G	p.Asn70Asp	p.N70D	ENST00000335790	NM_002315.2	70	Aac/Gac	0	1	1	UPI0000133883	0	getma.org/pdb.php?prot=RBTN1_HUMAN&from=24&to=82&var=N70D	ENST00000335790		ENSG00000166407	6641		37	1.12		HGNC	p.N69D		LMO1		SNV							ENST00000428101	protein_coding	getma.org/?cm=var&var=hg19,11,8251869,T,C&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132,Superfamily_domains:SSF57716		N/D		C	low	704/1279		getma.org/?cm=msa&ty=f&p=RBTN1_HUMAN&rb=24&re=82&var=N70D	tolerated(0.27)	E9PK83_HUMAN			YES	LMO1,missense_variant,p.Asn70Asp,ENST00000335790,NM_002315.2;LMO1,missense_variant,p.Asn69Asp,ENST00000428101,NM_001270428.1;LMO1,missense_variant,p.Asn59Asp,ENST00000534484,;LMO1,non_coding_transcript_exon_variant,,ENST00000524379,;							MODERATE	208/471	N70D	RBTN1_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000338207		CCDS44534.1			1	
NEK2	0	LGGM	GRCh37	1	211846928	211846928	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	61	14	.	.	ENST00000366999.4:c.452G>A	p.Gly151Asp	p.G151D	ENST00000366999	NM_002497.3	151	gGc/gAc	0	1	1	UPI000012FF27	0	getma.org/pdb.php?prot=NEK2_HUMAN&from=8&to=271&var=G151D	ENST00000366999		ENSG00000117650	7745		75	0.455		HGNC	p.G108D		NEK2		SNV			1				ENST00000540251	protein_coding	getma.org/?cm=var&var=hg19,1,211846928,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/D		T	neutral	591/2131		getma.org/?cm=msa&ty=f&p=NEK2_HUMAN&rb=8&re=271&var=G151D	tolerated(0.15)	B4DZU0_HUMAN			YES	NEK2,missense_variant,p.Gly151Asp,ENST00000366999,NM_002497.3;NEK2,missense_variant,p.Gly151Asp,ENST00000366998,NM_001204183.1;NEK2,missense_variant,p.Gly108Asp,ENST00000540251,;RP11-122M14.1,upstream_gene_variant,,ENST00000415202,;NEK2,upstream_gene_variant,,ENST00000462283,;NEK2,upstream_gene_variant,,ENST00000489633,;							MODERATE	452/1338	G151D	NEK2_HUMAN			Transcript		benign(0.008)	.	ENSP00000355966		CCDS1500.1			1	
GPRC5D	0	LGGM	GRCh37	12	13103015	13103015	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	22	14	.	.	ENST00000228887.1:c.304C>G	p.Leu102Val	p.L102V	ENST00000228887	NM_018654.1	102	Ctc/Gtc	0	1	1	UPI0000050482	0	NA	ENST00000228887		ENSG00000111291	13310		36	2.025		HGNC	p.L102V		GPRC5D		SNV							ENST00000541128	protein_coding	getma.org/?cm=var&var=hg19,12,13103015,G,C&fts=all		Pfam_domain:PF00003,hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF10,Transmembrane_helices:TMhelix		L/V		C	medium	304/1038		getma.org/?cm=msa&ty=f&p=GPC5D_HUMAN&rb=32&re=265&var=L102V	tolerated(0.09)	F5GWX9_HUMAN			YES	GPRC5D,missense_variant,p.Leu102Val,ENST00000228887,NM_018654.1;GPRC5D,missense_variant,p.Leu102Val,ENST00000396333,;GPRC5D,missense_variant,p.Leu102Val,ENST00000541128,;RP11-392P7.6,intron_variant,,ENST00000543515,;RP11-392P7.6,intron_variant,,ENST00000545914,;RP11-392P7.6,intron_variant,,ENST00000536029,;RP11-392P7.6,intron_variant,,ENST00000540198,;RP11-392P7.6,intron_variant,,ENST00000394742,;RP11-392P7.6,intron_variant,,ENST00000542078,;RP11-392P7.6,downstream_gene_variant,,ENST00000538231,;							MODERATE	304/1038	L102V	GPC5D_HUMAN			Transcript		benign(0.058)	.	ENSP00000228887		CCDS8658.1			1	
SELL	0	LGGM	GRCh37	1	169677561	169677561	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	49	14	.	.	ENST00000236147.4:c.508A>G	p.Thr170Ala	p.T170A	ENST00000236147	NM_000655.4	170	Aca/Gca	0	1	1	UPI000007083D	0	getma.org/pdb.php?prot=LYAM1_HUMAN&from=46&to=157&var=T157A	ENST00000236147		ENSG00000188404	10720		63	3.23		HGNC	p.T170A		SELL		SNV							ENST00000236147	protein_coding	getma.org/?cm=var&var=hg19,1,169677561,T,C&fts=all		Gene3D:3.10.100.10,PIRSF_domain:PIRSF002421,PROSITE_profiles:PS50026,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF337,Superfamily_domains:SSF57196		T/A		C	medium	669/2436		getma.org/?cm=msa&ty=f&p=LYAM1_HUMAN&rb=46&re=157&var=T157A	deleterious(0.02)	Q6ULR8_HUMAN			YES	SELL,missense_variant,p.Thr170Ala,ENST00000236147,NM_000655.4;SELL,non_coding_transcript_exon_variant,,ENST00000463108,;SELL,non_coding_transcript_exon_variant,,ENST00000479657,;SELL,non_coding_transcript_exon_variant,,ENST00000466340,;C1orf112,intron_variant,,ENST00000498289,;SELL,upstream_gene_variant,,ENST00000460650,;							MODERATE	508/1158	T157A	LYAM1_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000236147		CCDS53427.1			1	
MYO10	0	LGGM	GRCh37	5	16703251	16703251	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	58	15	.	.	ENST00000513610.1:c.2293G>A	p.Val765Ile	p.V765I	ENST00000513610	NM_012334.2	765	Gtc/Atc	0	1	1	UPI0001597062	0	NA	ENST00000513610		ENSG00000145555	7593		73	0.33		HGNC	p.V104I		MYO10		SNV							ENST00000515803	protein_coding	getma.org/?cm=var&var=hg19,5,16703251,C,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00015,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS50096		V/I		T	neutral	2748/8038		getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=744&re=807&var=V765I	tolerated(0.28)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Val765Ile,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Val104Ile,ENST00000515803,;MYO10,missense_variant,p.Val122Ile,ENST00000274203,;MYO10,missense_variant,p.Val122Ile,ENST00000427430,;MYO10,missense_variant,p.Val104Ile,ENST00000505695,;MYO10,missense_variant,p.Val776Ile,ENST00000513882,;MYO10,non_coding_transcript_exon_variant,,ENST00000512061,;MYO10,non_coding_transcript_exon_variant,,ENST00000506343,;MYO10,downstream_gene_variant,,ENST00000510401,;							MODERATE	2293/6177	V765I	MYO10_HUMAN			Transcript		benign(0.003)	.	ENSP00000421280		CCDS54834.1			1	
TRIM32	0	LGGM	GRCh37	9	119461159	119461159	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	25	15	.	.	ENST00000450136.1:c.1138A>T	p.Thr380Ser	p.T380S	ENST00000450136	NM_012210.3	380	Acc/Tcc	0	1		UPI000012CDB9	0	getma.org/pdb.php?prot=TRI32_HUMAN&from=371&to=398&var=T380S	ENST00000373983		ENSG00000119401	16380		40	-0.08		HGNC	p.T380S		TRIM32		SNV			1				ENST00000373983	protein_coding	getma.org/?cm=var&var=hg19,9,119461159,A,T&fts=all		Gene3D:2.120.10.30,Pfam_domain:PF01436,PROSITE_profiles:PS51125,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308,Superfamily_domains:SSF101898		T/S		T	neutral	1268/3688		getma.org/?cm=msa&ty=f&p=TRI32_HUMAN&rb=351&re=418&var=T380S	tolerated(0.58)	Q5JVY0_HUMAN				TRIM32,missense_variant,p.Thr380Ser,ENST00000450136,NM_012210.3,NM_001099679.1;TRIM32,missense_variant,p.Thr380Ser,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,;							MODERATE	1138/1962	T380S	TRI32_HUMAN			Transcript		benign(0.086)	.	ENSP00000363095		CCDS6817.1			1	
MROH7	0	LGGM	GRCh37	1	55139683	55139683	+	splice_region_variant,intron_variant,NMD_transcript_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	24	16	.	.	ENST00000414150.2:c.1801-6A>T		p.X601_splice	ENST00000414150				0	1	1	UPI000198C4E2	0		ENST00000421030		ENSG00000184313	24802		40			HGNC	p.Q604L		MROH7		SNV							ENST00000413188	protein_coding							T		-/4329				C9K0L2_HUMAN,B7ZBM2_HUMAN			YES	MROH7,splice_region_variant,,ENST00000421030,NM_001039464.2;MROH7,splice_region_variant,,ENST00000395690,;MROH7,splice_region_variant,,ENST00000339553,;MROH7,splice_region_variant,,ENST00000409996,;MROH7,splice_region_variant,,ENST00000454855,;MROH7,splice_region_variant,,ENST00000545244,;MROH7,downstream_gene_variant,,ENST00000478097,;MROH7-TTC4,missense_variant,p.Gln629Leu,ENST00000425300,;MROH7-TTC4,missense_variant,p.Gln604Leu,ENST00000606515,;MROH7,missense_variant,p.Gln604Leu,ENST00000413188,;MROH7,missense_variant,p.Gln604Leu,ENST00000422659,;MROH7,missense_variant,p.Gln604Leu,ENST00000438846,;MROH7-TTC4,splice_region_variant,,ENST00000414150,;MROH7,splice_region_variant,,ENST00000440047,;MROH7,splice_region_variant,,ENST00000440217,;							LOW	-/3972		MROH7_HUMAN			Transcript			.	ENSP00000396622		CCDS41342.2			1	
PITRM1	0	LGGM	GRCh37	10	3189829	3189829	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	56	17	.	.	ENST00000380989.2:c.2173A>T	p.Ile725Phe	p.I725F	ENST00000380989	NM_014889.3	725	Atc/Ttc	0	1		UPI00001F8A38	0	NA	ENST00000224949		ENSG00000107959	17663		73	1.61		HGNC	p.I724F		PITRM1		SNV							ENST00000224949	protein_coding	getma.org/?cm=var&var=hg19,10,3189829,T,A&fts=all		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF68,Pfam_domain:PF08367,Gene3D:3.30.830.10,Superfamily_domains:SSF63411		I/F		A	low	2205/3450		getma.org/?cm=msa&ty=f&p=PREP_HUMAN&rb=504&re=752&var=I724F	tolerated(0.08)					PITRM1,missense_variant,p.Ile725Phe,ENST00000380989,NM_014889.3,NM_001242307.1;PITRM1,missense_variant,p.Ile724Phe,ENST00000224949,;PITRM1,missense_variant,p.Ile626Phe,ENST00000451104,NM_001242309.1;PITRM1,missense_variant,p.Ile282Phe,ENST00000380994,;PITRM1,missense_variant,p.Ile58Phe,ENST00000451454,;PITRM1,downstream_gene_variant,,ENST00000430362,;PITRM1,upstream_gene_variant,,ENST00000455371,;PITRM1,upstream_gene_variant,,ENST00000424714,;PITRM1-AS1,intron_variant,,ENST00000598280,;PITRM1-AS1,intron_variant,,ENST00000601046,;PITRM1-AS1,downstream_gene_variant,,ENST00000441377,;PITRM1,non_coding_transcript_exon_variant,,ENST00000464395,;PITRM1-AS1,non_coding_transcript_exon_variant,,ENST00000430356,;							MODERATE	2170/3114	I724F	PREP_HUMAN			Transcript		benign(0.007)	.	ENSP00000224949		CCDS59208.1			1	
NKAPL	0	LGGM	GRCh37	6	28227985	28227985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	32	17	.	.	ENST00000343684.3:c.836G>T	p.Gly279Val	p.G279V	ENST00000343684	NM_001007531.2	279	gGg/gTg	0	1	1	UPI0000072A86	0	NA	ENST00000343684		ENSG00000189134	21584		49	2.28		HGNC	p.G279V		NKAPL		SNV							ENST00000343684	protein_coding	getma.org/?cm=var&var=hg19,6,28227985,G,T&fts=all		hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3		G/V		T	medium	888/1639		getma.org/?cm=msa&ty=f&p=NKAPL_HUMAN&rb=201&re=290&var=G279V	deleterious(0)				YES	NKAPL,missense_variant,p.Gly279Val,ENST00000343684,NM_001007531.2;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;							MODERATE	836/1209	G279V	NKAPL_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345716		CCDS34353.1			1	
FAT4	0	LGGM	GRCh37	4	126239923	126239923	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	39	17	.	.	ENST00000394329.3:c.2357C>T	p.Thr786Ile	p.T786I	ENST00000394329	NM_024582.4	786	aCt/aTt	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=690&to=793&var=T786I	ENST00000394329		ENSG00000196159	23109		56	-0.72		HGNC	p.T786I		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126239923,C,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Gene3D:2.60.40.60,SMART_domains:SM00112		T/I		T	neutral	2370/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=690&re=793&var=T786I		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Thr786Ile,ENST00000394329,NM_024582.4;							MODERATE	2357/14946	T786I	FAT4_HUMAN			Transcript		benign(0.418)	.	ENSP00000377862		CCDS3732.3			1	
MYH8	0	LGGM	GRCh37	17	10296271	10296271	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	31	18	.	.	ENST00000403437.2:c.5340C>T	p.Ala1780=	p.A1780=	ENST00000403437	NM_002472.2	1780	gcC/gcT	0	1	1	UPI000012FB7D	0		ENST00000403437		ENSG00000133020	7578		49			HGNC	p.A1780A		MYH8		SNV			1				ENST00000403437	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Superfamily_domains:SSF57997		A		A		5435/6041							YES	MYH8,synonymous_variant,p.=,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							LOW	5340/5814		MYH8_HUMAN			Transcript			.	ENSP00000384330		CCDS11153.1			1	
ZNF28	0	LGGM	GRCh37	19	53303785	53303785	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	65	19	.	.	ENST00000457749.2:c.1313C>A	p.Pro438His	p.P438H	ENST00000457749	NM_006969.3	438	cCt/cAt	0	1	1	UPI00001D8190	0	getma.org/pdb.php?prot=ZNF28_HUMAN&from=425&to=450&var=P438H	ENST00000457749		ENSG00000198538	13073		84	3.295		HGNC	p.P385H		ZNF28		SNV							ENST00000391783	protein_coding	getma.org/?cm=var&var=hg19,19,53303785,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,Superfamily_domains:SSF57667		P/H		T	medium	1433/4556		getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=405&re=470&var=P438H	deleterious(0)	C9K0H3_HUMAN			YES	ZNF28,missense_variant,p.Pro385His,ENST00000438150,;ZNF28,missense_variant,p.Pro438His,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Pro385His,ENST00000360272,;ZNF28,missense_variant,p.Pro385His,ENST00000414252,;ZNF28,missense_variant,p.Pro385His,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;							MODERATE	1313/2157	P438H	ZNF28_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000397693		CCDS33093.2			1	
OR5M11	0	LGGM	GRCh37	11	56310028	56310028	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	94	19	.	.	ENST00000528616.2:c.706G>A	p.Ala236Thr	p.A236T	ENST00000528616	NM_001005245.1	236	Gca/Aca	0	1	1	UPI00000405CF	0	NA	ENST00000528616		ENSG00000255223	15291		113	1.925		HGNC	p.A236T		OR5M11		SNV							ENST00000528616	protein_coding	getma.org/?cm=var&var=hg19,11,56310028,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF97,Superfamily_domains:SSF81321		A/T		T	medium	730/1012		getma.org/?cm=msa&ty=f&p=OR5MB_HUMAN&rb=138&re=282&var=A236T	deleterious(0.01)				YES	OR5M11,missense_variant,p.Ala236Thr,ENST00000528616,NM_001005245.1;							MODERATE	706/918	A236T	OR5MB_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000432417		CCDS53629.1			1	
HIF1A	0	LGGM	GRCh37	14	62207478	62207479	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	by Submitter	H090745	H090745N.bam	AG	AG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	52	19	.	.	ENST00000539097.1:c.1738_1739del	p.Asp580PhefsTer14	p.D580Ffs*14	ENST00000539097	NM_001243084.1	579	acAGat/acat	0	1		UPI0000000A06	0		ENST00000337138		ENSG00000100644	4910		71			HGNC	p.555_556del		HIF1A		deletion							ENST00000323441	protein_coding			Pfam_domain:PF11413,hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF7		TD/TX		-		1930-1931/3919				F8W9L0_HUMAN,D0VY79_HUMAN,B4E2U7_HUMAN				HIF1A,frameshift_variant,p.Asp557PhefsTer14,ENST00000394997,;HIF1A,frameshift_variant,p.Asp556PhefsTer14,ENST00000337138,NM_001530.3;HIF1A,frameshift_variant,p.Asp556PhefsTer14,ENST00000323441,NM_181054.2;HIF1A,frameshift_variant,p.Asp580PhefsTer14,ENST00000539097,NM_001243084.1;HIF1A,frameshift_variant,p.Asp497PhefsTer14,ENST00000557538,;HIF1A-AS2,intron_variant,,ENST00000554254,;HIF1A,non_coding_transcript_exon_variant,,ENST00000555014,;RP11-618G20.1,intron_variant,,ENST00000555937,;HIF1A,non_coding_transcript_exon_variant,,ENST00000547430,;HIF1A,upstream_gene_variant,,ENST00000556827,;							HIGH	1665-1666/2481		HIF1A_HUMAN			Transcript	1		.	ENSP00000338018		CCDS9753.1			1	
MAPK6	0	LGGM	GRCh37	15	52338707	52338707	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	58	19	.	.	ENST00000261845.5:c.50G>A	p.Gly17Asp	p.G17D	ENST00000261845	NM_002748.3	17	gGt/gAt	0	1	1	UPI000012F177	0	getma.org/pdb.php?prot=MK06_HUMAN&from=1&to=19&var=G17D	ENST00000261845		ENSG00000069956	6879		77	0.75		HGNC	p.G17D		MAPK6		SNV							ENST00000261845	protein_coding	getma.org/?cm=var&var=hg19,15,52338707,G,A&fts=all		hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF171,Gene3D:3.30.200.20,Superfamily_domains:SSF56112		G/D		A	neutral	857/4238		getma.org/?cm=msa&ty=f&p=MK06_HUMAN&rb=1&re=49&var=G17D	tolerated(0.09)				YES	MAPK6,missense_variant,p.Gly17Asp,ENST00000261845,NM_002748.3;MAPK6,downstream_gene_variant,,ENST00000558841,;MAPK6,downstream_gene_variant,,ENST00000558891,;MAPK6,downstream_gene_variant,,ENST00000558063,;MAPK6,downstream_gene_variant,,ENST00000560774,;MAPK6,downstream_gene_variant,,ENST00000560254,;MAPK6,downstream_gene_variant,,ENST00000560802,;MAPK6,downstream_gene_variant,,ENST00000558100,;							MODERATE	50/2166	G17D	MK06_HUMAN			Transcript		benign(0.028)	.	ENSP00000261845		CCDS10147.1			1	
ARHGEF38	0	LGGM	GRCh37	4	106587460	106587460	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	58	20	.	.	ENST00000420470.2:c.1672A>T	p.Lys558Ter	p.K558*	ENST00000420470	NM_001242729.1	558	Aaa/Taa	0	1	1	UPI0001D3B6A5	0	NA	ENST00000420470		ENSG00000236699	25968		78	0		HGNC	p.K558X		ARHGEF38		SNV							ENST00000420470	protein_coding	getma.org/?cm=var&var=hg19,4,106587460,A,T&fts=all		hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF18		K/*		T	NA	1816/5454		NA					YES	ARHGEF38,stop_gained,p.Lys558Ter,ENST00000420470,NM_001242729.1;ARHGEF38,non_coding_transcript_exon_variant,,ENST00000508036,;							HIGH	1672/2334	K558*	ARH38_HUMAN			Transcript			.	ENSP00000416125		CCDS56338.1			1	
MDN1	0	LGGM	GRCh37	6	90360461	90360461	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	61	21	.	.	ENST00000369393.3:c.16021G>A	p.Ala5341Thr	p.A5341T	ENST00000369393		5341	Gcc/Acc	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		82	-0.015		HGNC	p.A5341T		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90360461,C,T&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		A/T		T	neutral	16137/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=5300&re=5594&var=A5341T		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Ala5341Thr,ENST00000369393,;MDN1,missense_variant,p.Ala5341Thr,ENST00000428876,NM_014611.1;							MODERATE	16021/16791	A5341T	MDN1_HUMAN			Transcript		unknown(0)	.	ENSP00000358400		CCDS5024.1			1	
CNPPD1	0	LGGM	GRCh37	2	220040372	220040372	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	36	21	.	.	ENST00000409789.1:c.201G>T	p.Gln67His	p.Q67H	ENST00000409789		67	caG/caT	0	1		UPI000013D5FA	0	NA	ENST00000360507		ENSG00000115649	25220		57	1.79		HGNC	p.Q67H		CNPPD1		SNV							ENST00000453038	protein_coding	getma.org/?cm=var&var=hg19,2,220040372,C,A&fts=all		hmmpanther:PTHR15615,hmmpanther:PTHR15615:SF0		Q/H		A	low	339/2060		getma.org/?cm=msa&ty=f&p=CNPD1_HUMAN&rb=66&re=174&var=Q67H	deleterious(0)	C9JF31_HUMAN				CNPPD1,missense_variant,p.Gln67His,ENST00000409789,;CNPPD1,missense_variant,p.Gln67His,ENST00000360507,NM_015680.4;CNPPD1,missense_variant,p.Gln67His,ENST00000453038,;CNPPD1,missense_variant,p.Gln67His,ENST00000451647,;FAM134A,upstream_gene_variant,,ENST00000430297,NM_024293.4;FAM134A,upstream_gene_variant,,ENST00000458520,;FAM134A,upstream_gene_variant,,ENST00000452022,;FAM134A,upstream_gene_variant,,ENST00000430747,;FAM134A,upstream_gene_variant,,ENST00000443757,;SLC23A3,upstream_gene_variant,,ENST00000498327,;FAM134A,upstream_gene_variant,,ENST00000273048,;FAM134A,upstream_gene_variant,,ENST00000452293,;FAM134A,upstream_gene_variant,,ENST00000465672,;							MODERATE	201/1233	Q67H	CNPD1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000353698		CCDS2433.1			1	
MUSK	0	LGGM	GRCh37	9	113530221	113530221	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	67	22	.	.	ENST00000374448.4:c.1042C>T	p.Gln348Ter	p.Q348*	ENST00000374448	NM_005592.3	348	Caa/Taa	0	1	1	UPI000006D2F7	0	NA	ENST00000374448		ENSG00000030304	7525		89	0		HGNC	p.Q354X		MUSK		SNV			1				ENST00000189978	protein_coding	getma.org/?cm=var&var=hg19,9,113530221,C,T&fts=all		Pfam_domain:PF01392,Gene3D:1ijyA00,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50038		Q/*		T	NA	1176/2754		NA					YES	MUSK,stop_gained,p.Gln348Ter,ENST00000416899,;MUSK,stop_gained,p.Gln348Ter,ENST00000189978,;MUSK,stop_gained,p.Gln348Ter,ENST00000374448,NM_005592.3,NM_001166281.1;							HIGH	1042/2610	Q348*	MUSK_HUMAN			Transcript			.	ENSP00000363571		CCDS48005.1			1	
SEMA3A	0	LGGM	GRCh37	7	83606493	83606493	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	38	22	.	.	ENST00000265362.4:c.1672A>G	p.Ile558Val	p.I558V	ENST00000265362	NM_006080.2	558	Ata/Gta	0	1	1	UPI0000135A60	0	getma.org/pdb.php?prot=SEM3A_HUMAN&from=499&to=698&var=I558V	ENST00000265362		ENSG00000075213	10723		60	1.02		HGNC	p.I558V		SEMA3A		SNV			1				ENST00000265362	protein_coding	getma.org/?cm=var&var=hg19,7,83606493,T,C&fts=all		hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575		I/V		C	low	1987/8225		getma.org/?cm=msa&ty=f&p=SEM3A_HUMAN&rb=499&re=698&var=I558V	tolerated(1)	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN			YES	SEMA3A,missense_variant,p.Ile558Val,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Ile558Val,ENST00000436949,;							MODERATE	1672/2316	I558V	SEM3A_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000265362		CCDS5599.1			1	
IGF2R	0	LGGM	GRCh37	6	160453992	160453992	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	65	23	.	.	ENST00000356956.1:c.1064A>T	p.Asp355Val	p.D355V	ENST00000356956	NM_000876.2	355	gAt/gTt	0	1	1	UPI0000072478	0	getma.org/pdb.php?prot=MPRI_HUMAN&from=277&to=421&var=D355V	ENST00000356956		ENSG00000197081	5467		88	2.3		HGNC	p.D355V		IGF2R		SNV							ENST00000356956	protein_coding	getma.org/?cm=var&var=hg19,6,160453992,A,T&fts=all		hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911		D/V		T	medium	1212/9091		getma.org/?cm=msa&ty=f&p=MPRI_HUMAN&rb=277&re=421&var=D355V	deleterious(0)	A0N9R7_HUMAN,A0N9R6_HUMAN			YES	IGF2R,missense_variant,p.Asp355Val,ENST00000356956,NM_000876.2;							MODERATE	1064/7476	D355V	MPRI_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000349437		CCDS5273.1			1	
MDGA2	0	LGGM	GRCh37	14	47600966	47600966	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	39	24	.	.	ENST00000439988.3:c.876A>T	p.Val292=	p.V292=	ENST00000439988		292	gtA/gtT	0	1		UPI00001C14FF	0		ENST00000399232		ENSG00000139915	19835		63			HGNC	p.V292V		MDGA2		SNV							ENST00000399232	protein_coding			SMART_domains:SM00409,SMART_domains:SM00408,hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50835		V		A		1034/5075				F8WE89_HUMAN				MDGA2,synonymous_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,synonymous_variant,p.=,ENST00000439988,;MDGA2,synonymous_variant,p.=,ENST00000554762,;MDGA2,5_prime_UTR_variant,,ENST00000426342,NM_182830.4;MDGA2,5_prime_UTR_variant,,ENST00000357362,;MDGA2,5_prime_UTR_variant,,ENST00000557238,;MDGA2,5_prime_UTR_variant,,ENST00000482848,;							LOW	669/2871		MDGA2_HUMAN			Transcript			.	ENSP00000382178		CCDS45098.3			1	
OAS3	0	LGGM	GRCh37	12	113402179	113402179	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	38	25	.	.	ENST00000228928.7:c.2369G>C	p.Arg790Pro	p.R790P	ENST00000228928	NM_006187.2	790	cGg/cCg	0	1	1	UPI000034ECD3	0	getma.org/pdb.php?prot=OAS3_HUMAN&from=780&to=871&var=R790P	ENST00000228928		ENSG00000111331	8088		63	2.32		HGNC	p.R790P		OAS3		SNV							ENST00000228928	protein_coding	getma.org/?cm=var&var=hg19,12,113402179,G,C&fts=all		PROSITE_profiles:PS50152,hmmpanther:PTHR11258:SF4,hmmpanther:PTHR11258,Gene3D:3.30.460.10,Pfam_domain:PF01909,Superfamily_domains:SSF81301		R/P		C	medium	2548/6719		getma.org/?cm=msa&ty=f&p=OAS3_HUMAN&rb=780&re=871&var=R790P	deleterious(0.02)				YES	OAS3,missense_variant,p.Arg790Pro,ENST00000228928,NM_006187.2;OAS3,missense_variant,p.Arg13Pro,ENST00000546973,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,upstream_gene_variant,,ENST00000549918,;OAS3,downstream_gene_variant,,ENST00000546800,;							MODERATE	2369/3264	R790P	OAS3_HUMAN			Transcript		benign(0.235)	.	ENSP00000228928		CCDS44981.1			1	
USP6NL	0	LGGM	GRCh37	10	11504846	11504846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	85	25	.	.	ENST00000277575.5:c.2132C>T	p.Pro711Leu	p.P711L	ENST00000277575	NM_001080491.2	711	cCg/cTg	0	1		UPI000000DA06	0	NA	ENST00000609104		ENSG00000148429	16858		110	1.905		HGNC	p.P694L	rs757043262	USP6NL	6.09E-05	SNV							ENST00000379237	protein_coding	getma.org/?cm=var&var=hg19,10,11504846,G,A&fts=all		Low_complexity_(Seg):seg		P/L		A	medium	2476/11377		getma.org/?cm=msa&ty=f&p=US6NL_HUMAN&rb=568&re=826&var=P694L	deleterious_low_confidence(0)					USP6NL,missense_variant,p.Pro694Leu,ENST00000609104,NM_014688.2;USP6NL,missense_variant,p.Pro717Leu,ENST00000379237,;USP6NL,missense_variant,p.Pro711Leu,ENST00000277575,NM_001080491.2;							MODERATE	2081/2487	P694L				Transcript		possibly_damaging(0.747)	.	ENSP00000476462	8.28E-06	CCDS53492.1			1	
ADCK2	0	LGGM	GRCh37	7	140379072	140379072	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	43	25	.	.	ENST00000072869.4:c.1198G>A	p.Glu400Lys	p.E400K	ENST00000072869	NM_052853.3	400	Gaa/Aaa	0	1	1	UPI000003C962	0	NA	ENST00000072869		ENSG00000133597	19039		68	3.49		HGNC	p.E400K		ADCK2		SNV							ENST00000476491	protein_coding	getma.org/?cm=var&var=hg19,7,140379072,G,A&fts=all		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF6,Superfamily_domains:SSF56112		E/K		A	medium	1376/2377		getma.org/?cm=msa&ty=f&p=ADCK2_HUMAN&rb=200&re=618&var=E400K	deleterious(0)	A4D1T6_HUMAN			YES	ADCK2,missense_variant,p.Glu400Lys,ENST00000072869,NM_052853.3;ADCK2,missense_variant,p.Glu400Lys,ENST00000476491,;ADCK2,missense_variant,p.Glu238Lys,ENST00000483369,;ADCK2,missense_variant,p.Glu40Lys,ENST00000473512,;ADCK2,non_coding_transcript_exon_variant,,ENST00000498423,;							MODERATE	1198/1881	E400K	ADCK2_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000072869		CCDS5861.1			1	
EYS	0	LGGM	GRCh37	6	66205064	66205064	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	60	26	.	.	ENST00000503581.1:c.240G>A	p.Leu80=	p.L80=	ENST00000503581	NM_001142800.1	80	ttG/ttA	0	1		UPI0001AE72B3	0		ENST00000370616		ENSG00000188107	21555		86			HGNC	p.L80L		EYS		SNV			1				ENST00000370618	protein_coding					L		T		240/9498								EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,;EYS,synonymous_variant,p.=,ENST00000370616,;EYS,synonymous_variant,p.=,ENST00000393380,NM_001142801.1;EYS,synonymous_variant,p.=,ENST00000370618,;EYS,synonymous_variant,p.=,ENST00000342421,NM_198283.1;EYS,5_prime_UTR_variant,,ENST00000471279,;EYS,non_coding_transcript_exon_variant,,ENST00000489873,;							LOW	240/9498		EYS_HUMAN			Transcript			.	ENSP00000359650					1	
TLR7	0	LGGM	GRCh37	X	12903923	12903923	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	41	27	.	.	ENST00000380659.3:c.296A>G	p.Asn99Ser	p.N99S	ENST00000380659	NM_016562.3	99	aAc/aGc	0	1	1	UPI000004BAF6	0	getma.org/pdb.php?prot=TLR7_HUMAN&from=1&to=200&var=N99S	ENST00000380659		ENSG00000196664	15631		68	3.065		HGNC	p.N99S		TLR7		SNV							ENST00000380659	protein_coding	getma.org/?cm=var&var=hg19,X,12903923,A,G&fts=all		Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365		N/S		G	medium	435/5011		getma.org/?cm=msa&ty=f&p=TLR7_HUMAN&rb=1&re=200&var=N99S	deleterious(0)	B2R9N9_HUMAN			YES	TLR7,missense_variant,p.Asn99Ser,ENST00000380659,NM_016562.3;							MODERATE	296/3150	N99S	TLR7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370034		CCDS14151.1			1	
CEACAM8	0	LGGM	GRCh37	19	43098027	43098027	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	66	28	.	.	ENST00000244336.5:c.90G>A	p.Pro30=	p.P30=	ENST00000244336	NM_001816.3	30	ccG/ccA	0	1	1	UPI00000012A3	0		ENST00000244336		ENSG00000124469	1820		94			HGNC	p.P30P	rs369527473,COSM1564392	CEACAM8	7.48E-05	SNV	T:0			0.000194		0,1	ENST00000244336	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19955:SF60,hmmpanther:PTHR19955		P	T:0.0001	T		192/2305	1.53E-05			Q0Z7S6_HUMAN			YES	CEACAM8,synonymous_variant,p.=,ENST00000244336,NM_001816.3;CEACAM8,intron_variant,,ENST00000599005,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;					0,1		LOW	90/1050		CEAM8_HUMAN			Transcript			.	ENSP00000244336	3.29E-05	CCDS12610.1			1	
DYNC1LI2	0	LGGM	GRCh37	16	66776417	66776417	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	32	28	.	.	ENST00000258198.2:c.453A>G	p.Lys151=	p.K151=	ENST00000258198	NM_006141.2	151	aaA/aaG	0	1	1	UPI0000129A0D	0		ENST00000258198		ENSG00000135720	2966		60			HGNC	p.K151K		DYNC1LI2		SNV							ENST00000379482	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF05783,hmmpanther:PTHR12688,hmmpanther:PTHR12688:SF1,Superfamily_domains:SSF52540		K		C		660/4515							YES	DYNC1LI2,synonymous_variant,p.=,ENST00000258198,NM_006141.2;DYNC1LI2,synonymous_variant,p.=,ENST00000440564,;DYNC1LI2,synonymous_variant,p.=,ENST00000379482,;DYNC1LI2,synonymous_variant,p.=,ENST00000566150,;DYNC1LI2,intron_variant,,ENST00000443351,NM_001286157.1;RP11-63M22.1,downstream_gene_variant,,ENST00000565082,;DYNC1LI2,3_prime_UTR_variant,,ENST00000568180,;DYNC1LI2,3_prime_UTR_variant,,ENST00000564090,;							LOW	453/1479		DC1L2_HUMAN			Transcript			.	ENSP00000258198		CCDS10818.1			1	
GATAD1	0	LGGM	GRCh37	7	92085780	92085780	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	43	28	.	.	ENST00000287957.3:c.714C>A	p.Pro238=	p.P238=	ENST00000287957	NM_021167.4	238	ccC/ccA	0	1	1	UPI000006FF00	0		ENST00000287957		ENSG00000157259	29941		71			HGNC	p.P238P		GATAD1		SNV			1				ENST00000287957	protein_coding			hmmpanther:PTHR13340		P		A		991/3361							YES	GATAD1,synonymous_variant,p.=,ENST00000287957,NM_021167.4;AC007566.10,upstream_gene_variant,,ENST00000427458,;GATAD1,non_coding_transcript_exon_variant,,ENST00000493878,;GATAD1,non_coding_transcript_exon_variant,,ENST00000465247,;							LOW	714/810		GATD1_HUMAN			Transcript			.	ENSP00000287957		CCDS5625.1			1	
MUC16	0	LGGM	GRCh37	19	9048010	9048010	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090745	H090745N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	94	31	.	.	ENST00000397910.4:c.33621G>A	p.Leu11207=	p.L11207=	ENST00000397910	NM_024690.2	11207	ctG/ctA	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		125			HGNC	p.L11207L		MUC16		SNV							ENST00000397910	protein_coding			hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		L		T		33825/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	33621/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
AHNAK2	0	LGGM	GRCh37	14	105407949	105407949	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	93	33	.	.	ENST00000333244.5:c.13839C>T	p.Asp4613=	p.D4613=	ENST00000333244	NM_138420.2	4613	gaC/gaT	0	1	1	UPI00015BB2CA	0		ENST00000333244		ENSG00000185567	20125		126			HGNC	p.D4613D		AHNAK2		SNV							ENST00000333244	protein_coding					D		A		13959/18254							YES	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							LOW	13839/17388		AHNK2_HUMAN			Transcript			.	ENSP00000353114		CCDS45177.1			1	
A2M	0	LGGM	GRCh37	12	9232262	9232262	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	45	36	.	.	ENST00000318602.7:c.3004T>G	p.Ser1002Ala	p.S1002A	ENST00000318602	NM_000014.4	1002	Tcc/Gcc	0	1	1	UPI000014038F	0	getma.org/pdb.php?prot=A2MG_HUMAN&from=992&to=1009&var=S1002A	ENST00000318602		ENSG00000175899	7		81	0.905		HGNC	p.S1002A		A2M		SNV							ENST00000318602	protein_coding	getma.org/?cm=var&var=hg19,12,9232262,A,C&fts=all		hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412,Gene3D:1.50.10.20,Superfamily_domains:SSF48239		S/A		C	low	3312/4844		getma.org/?cm=msa&ty=f&p=A2MG_HUMAN&rb=962&re=1039&var=S1002A	tolerated(0.13)	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN			YES	A2M,missense_variant,p.Ser1002Ala,ENST00000318602,NM_000014.4;A2M,intron_variant,,ENST00000543436,;A2M,non_coding_transcript_exon_variant,,ENST00000542567,;A2M,intron_variant,,ENST00000545828,;A2M,downstream_gene_variant,,ENST00000462568,;							MODERATE	3004/4425	S1002A	A2MG_HUMAN			Transcript		benign(0.008)	.	ENSP00000323929		CCDS44827.1			1	
LIMA1	0	LGGM	GRCh37	12	50571078	50571078	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	99	37	.	.	ENST00000394943.3:c.2052T>C	p.Gly684=	p.G684=	ENST00000394943		684	ggT/ggC	0	1		UPI0000037BF2	0		ENST00000341247		ENSG00000050405	24636		136			HGNC	p.G380G		LIMA1		SNV							ENST00000552491	protein_coding			hmmpanther:PTHR24206,hmmpanther:PTHR24206:SF27		G		G		2199/3706				F8VVQ7_HUMAN,F8VTU2_HUMAN				LIMA1,synonymous_variant,p.=,ENST00000547825,NM_001243775.1;LIMA1,synonymous_variant,p.=,ENST00000341247,NM_016357.4,NM_001113546.1;LIMA1,synonymous_variant,p.=,ENST00000394943,;LIMA1,synonymous_variant,p.=,ENST00000552783,NM_001113547.1;LIMA1,synonymous_variant,p.=,ENST00000552823,;LIMA1,synonymous_variant,p.=,ENST00000552491,;LIMA1,synonymous_variant,p.=,ENST00000552909,;LIMA1,downstream_gene_variant,,ENST00000552338,;LIMA1,3_prime_UTR_variant,,ENST00000552720,;LIMA1,downstream_gene_variant,,ENST00000549064,;							LOW	2049/2280		LIMA1_HUMAN			Transcript			.	ENSP00000340184		CCDS8802.1			1	
OR14K1	0	LGGM	GRCh37	1	247902636	247902636	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	130	37	.	.	ENST00000283225.2:c.720G>A	p.Val240=	p.V240=	ENST00000283225		240	gtG/gtA	0	1	1	UPI0000041CBA	0		ENST00000283225		ENSG00000153230	15025		167			HGNC	p.V240V		OR14K1		SNV							ENST00000283225	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		V		A		720/945							YES	OR14K1,synonymous_variant,p.=,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;							LOW	720/945		O14K1_HUMAN			Transcript			.	ENSP00000283225					1	
RABL2B	0	LGGM	GRCh37	22	51207950	51207950	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	122	38	.	.	ENST00000395593.3:c.437A>G	p.Asn146Ser	p.N146S	ENST00000395593	NM_001130923.1	146	aAt/aGt	0	1		UPI00001331E5	0	getma.org/pdb.php?prot=RBL2B_HUMAN&from=23&to=179&var=N146S	ENST00000395598		ENSG00000079974	9800		160	0.405		HGNC	p.N146S	rs147376674	RABL2B		SNV	G:0.0143			0.00385			ENST00000435118	protein_coding	getma.org/?cm=var&var=hg19,22,51207950,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF263,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		N/S	G:0.0001	C	neutral	649/2169	1.50E-05	getma.org/?cm=msa&ty=f&p=RBL2B_HUMAN&rb=23&re=179&var=N146S	tolerated(0.26)	F2Z2T3_HUMAN,C9JFZ0_HUMAN				RABL2B,missense_variant,p.Asn147Ser,ENST00000395595,NM_001130921.1;RABL2B,missense_variant,p.Asn146Ser,ENST00000395593,NM_001130923.1,NM_001130920.1;RABL2B,missense_variant,p.Asn146Ser,ENST00000395598,NM_001130922.1,NM_001003789.1,NM_007081.2,NM_001130919.1;RABL2B,missense_variant,p.Asn147Ser,ENST00000354869,;RABL2B,missense_variant,p.Asn83Ser,ENST00000395591,;RABL2B,missense_variant,p.Asn146Ser,ENST00000435118,;RABL2B,downstream_gene_variant,,ENST00000395590,;RABL2B,non_coding_transcript_exon_variant,,ENST00000465063,;RPL23AP82,intron_variant,,ENST00000496652,;RABL2B,3_prime_UTR_variant,,ENST00000436958,;RABL2B,3_prime_UTR_variant,,ENST00000425098,;RABL2B,downstream_gene_variant,,ENST00000464678,;RABL2B,downstream_gene_variant,,ENST00000482308,;		G:0.0052					MODERATE	437/687	N146S	RBL2B_HUMAN			Transcript		benign(0.034)	common_variant	ENSP00000378962	0.000346	CCDS14102.1	0.0011		1	
ABCA9	0	LGGM	GRCh37	17	67004230	67004230	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	79	39	.	.	ENST00000340001.4:c.3294A>G	p.Ile1098Met	p.I1098M	ENST00000340001	NM_080283.3	1098	atA/atG	0	1	1	UPI00000747B1	0	NA	ENST00000340001		ENSG00000154258	39		118	1.15		HGNC	p.I1098M		ABCA9		SNV							ENST00000340001	protein_coding	getma.org/?cm=var&var=hg19,17,67004230,T,C&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF12698,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229		I/M		C	low	3506/6514		getma.org/?cm=msa&ty=f&p=ABCA9_HUMAN&rb=917&re=1220&var=I1098M	tolerated(0.28)	K7EJJ0_HUMAN			YES	ABCA9,missense_variant,p.Ile1098Met,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Ile1098Met,ENST00000370732,;ABCA9,missense_variant,p.Ile1098Met,ENST00000453985,;ABCA9-AS1,intron_variant,,ENST00000458677,;ABCA9,downstream_gene_variant,,ENST00000492580,;							MODERATE	3294/4875	I1098M	ABCA9_HUMAN			Transcript		benign(0.062)	.	ENSP00000342216		CCDS11681.1			1	
OR9A4	0	LGGM	GRCh37	7	141618821	141618821	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090745	H090745N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	66	40	.	.	ENST00000548136.1:c.146G>A	p.Cys49Tyr	p.C49Y	ENST00000548136	NM_001001656.1	49	tGt/tAt	0	1	1	UPI0000041D24	0	getma.org/pdb.php?prot=OR9A4_HUMAN&from=1&to=138&var=C49Y	ENST00000548136		ENSG00000258083	15095		106	1.5		HGNC	p.C49Y		OR9A4		SNV							ENST00000548136	protein_coding	getma.org/?cm=var&var=hg19,7,141618821,G,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF216,Superfamily_domains:SSF81321		C/Y		A	low	205/1093		getma.org/?cm=msa&ty=f&p=OR9A4_HUMAN&rb=1&re=138&var=C49Y	tolerated(0.28)				YES	OR9A4,missense_variant,p.Cys49Tyr,ENST00000548136,NM_001001656.1;MGAM,intron_variant,,ENST00000465654,;MGAM,intron_variant,,ENST00000497554,;							MODERATE	146/945	C49Y	OR9A4_HUMAN			Transcript		benign(0.049)	.	ENSP00000448789		CCDS43661.1			1	
DST	0	LGGM	GRCh37	6	56426257	56426257	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	115	41	.	.	ENST00000244364.6:c.6290A>T	p.Asn2097Ile	p.N2097I	ENST00000244364	NM_015548.4	2097	aAc/aTc	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		156	1.5		HGNC	p.N2097I		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56426257,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Superfamily_domains:SSF46966		N/I		A	low	6498/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=4354&re=4512&var=N4509I		Q86T18_HUMAN			YES	DST,missense_variant,p.Asn4689Ile,ENST00000370754,;DST,missense_variant,p.Asn4511Ile,ENST00000370769,;DST,missense_variant,p.Asn4185Ile,ENST00000446842,;DST,missense_variant,p.Asn4509Ile,ENST00000361203,;DST,missense_variant,p.Asn2423Ile,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Asn2423Ile,ENST00000421834,;DST,missense_variant,p.Asn2097Ile,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000520144,;							MODERATE	6290/15516	N4509I	DYST_HUMAN			Transcript		benign(0.301)	.	ENSP00000244364		CCDS47443.1			1	
CCDC168	0	LGGM	GRCh37	13	103382059	103382059	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090745	H090745N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	90	42	.	.	ENST00000322527.2:c.7101A>T	p.Ser2367=	p.S2367=	ENST00000322527	NM_001146197.1	2367	tcA/tcT	0	1	1	UPI0000DD81F0	0		ENST00000322527		ENSG00000175820	26851		132			HGNC	p.S2367S		CCDC168		SNV							ENST00000322527	protein_coding					S		A		7101/7359							YES	CCDC168,synonymous_variant,p.=,ENST00000322527,NM_001146197.1;							LOW	7101/7359		CC168_HUMAN			Transcript			.	ENSP00000320232					1	
NRF1	0	LGGM	GRCh37	7	129348996	129348996	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090745	H090745N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090745N.bam, H090745T.bam	Illumina HiSeq	107	91	.	.	ENST00000393232.1:c.688A>C	p.Lys230Gln	p.K230Q	ENST00000393232	NM_005011.3	230	Aag/Cag	0	1		UPI000003BB3B	0	NA	ENST00000223190		ENSG00000106459	7996		198	0.97		HGNC	p.K230Q		NRF1		SNV							ENST00000311967	protein_coding	getma.org/?cm=var&var=hg19,7,129348996,A,C&fts=all		hmmpanther:PTHR20338,Pfam_domain:PF10491		K/Q		C	low	766/2424		getma.org/?cm=msa&ty=f&p=NRF1_HUMAN&rb=75&re=285&var=K230Q	deleterious(0.01)	C9JP85_HUMAN,B4DDV6_HUMAN				NRF1,missense_variant,p.Lys230Gln,ENST00000393232,NM_005011.3;NRF1,missense_variant,p.Lys230Gln,ENST00000393230,NM_001040110.1;NRF1,missense_variant,p.Lys230Gln,ENST00000353868,;NRF1,missense_variant,p.Lys230Gln,ENST00000311967,;NRF1,missense_variant,p.Lys230Gln,ENST00000223190,;NRF1,missense_variant,p.Lys230Gln,ENST00000393231,;NRF1,missense_variant,p.Lys69Gln,ENST00000539636,;NRF1,downstream_gene_variant,,ENST00000454688,;							MODERATE	688/1512	K230Q	NRF1_HUMAN			Transcript		benign(0.11)	.	ENSP00000223190		CCDS5813.2			1	
NPHP4	0	LGGM	GRCh37	1	5967254	5967254	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	5	2	.	.	ENST00000378156.4:c.1532C>T	p.Pro511Leu	p.P511L	ENST00000378156	NM_015102.3	511	cCg/cTg	0	1	1	UPI00001303E5	0	NA	ENST00000378156		ENSG00000131697	19104		7	2.015		HGNC	p.P511L	rs761974713	NPHP4		SNV			1				ENST00000489180	protein_coding	getma.org/?cm=var&var=hg19,1,5967254,G,A&fts=all		hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043		P/L		A	medium	1798/4994	4.49E-05	getma.org/?cm=msa&ty=f&p=NPHP4_HUMAN&rb=401&re=528&var=P511L	deleterious(0.01)				YES	NPHP4,missense_variant,p.Pro511Leu,ENST00000378156,NM_015102.3;NPHP4,intron_variant,,ENST00000478423,;NPHP4,missense_variant,p.Pro511Leu,ENST00000489180,;NPHP4,intron_variant,,ENST00000378169,;NPHP4,upstream_gene_variant,,ENST00000466897,;							MODERATE	1532/4281	P511L	NPHP4_HUMAN			Transcript		benign(0.401)	.	ENSP00000367398	8.30E-06	CCDS44052.1			1	
SIDT2	0	LGGM	GRCh37	11	117050060	117050060	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	27	2	.	.	ENST00000324225.4:c.81C>A	p.Asn27Lys	p.N27K	ENST00000324225	NM_001040455.1	27	aaC/aaA	0	1	1	UPI000004BA68	0	NA	ENST00000324225		ENSG00000149577	24272		29	1.1		HGNC	p.N27K		SIDT2		SNV							ENST00000324225	protein_coding	getma.org/?cm=var&var=hg19,11,117050060,C,A&fts=all		hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF16		N/K		A	low	612/4406		getma.org/?cm=msa&ty=f&p=SIDT2_HUMAN&rb=1&re=168&var=N27K	tolerated_low_confidence(0.06)	G3V172_HUMAN,E9PPN9_HUMAN,E9PME7_HUMAN,E9PMC3_HUMAN			YES	SIDT2,missense_variant,p.Asn27Lys,ENST00000324225,NM_001040455.1;SIDT2,missense_variant,p.Asn27Lys,ENST00000431081,;SIDT2,missense_variant,p.Asn27Lys,ENST00000278951,;SIDT2,missense_variant,p.Asn27Lys,ENST00000532960,;PAFAH1B2,downstream_gene_variant,,ENST00000419197,NM_001184748.1;PAFAH1B2,downstream_gene_variant,,ENST00000529887,NM_001184747.1;PAFAH1B2,downstream_gene_variant,,ENST00000530272,NM_001184746.1;SIDT2,upstream_gene_variant,,ENST00000524842,;SIDT2,upstream_gene_variant,,ENST00000531353,;SIDT2,non_coding_transcript_exon_variant,,ENST00000525339,;PAFAH1B2,downstream_gene_variant,,ENST00000526888,;SIDT2,upstream_gene_variant,,ENST00000530948,;SIDT2,upstream_gene_variant,,ENST00000531255,;SIDT2,upstream_gene_variant,,ENST00000528397,;							MODERATE	81/2499	N27K	SIDT2_HUMAN			Transcript		benign(0.041)	.	ENSP00000314023		CCDS31682.1			1	
ZSCAN32	0	LGGM	GRCh37	16	3433264	3433264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	18	2	.	.	ENST00000304926.3:c.1046G>T	p.Arg349Leu	p.R349L	ENST00000304926	NM_017810.2	349	cGc/cTc	0	1		UPI000035DB5C	0	getma.org/pdb.php?prot=ZN434_HUMAN&from=337&to=359&var=R349L	ENST00000396846		ENSG00000140987	20812		20	1.43		HGNC	p.R272L		ZSCAN32		SNV							ENST00000439568	protein_coding	getma.org/?cm=var&var=hg19,16,3433264,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF210,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/L		A	low	1870/3048		getma.org/?cm=msa&ty=f&p=ZN434_HUMAN&rb=317&re=379&var=R349L	tolerated(0.09)	I3L3J2_HUMAN,I3L1K0_HUMAN,B4DWL5_HUMAN				ZSCAN32,missense_variant,p.Arg561Leu,ENST00000396852,NM_001284527.1;ZSCAN32,missense_variant,p.Arg561Leu,ENST00000396846,;ZSCAN32,missense_variant,p.Arg349Leu,ENST00000304926,NM_017810.2;ZSCAN32,missense_variant,p.Arg272Leu,ENST00000439568,NM_001284529.1,NM_001284528.1;ZSCAN32,downstream_gene_variant,,ENST00000574940,;ZSCAN32,downstream_gene_variant,,ENST00000573327,;ZSCAN32,downstream_gene_variant,,ENST00000422427,;ZSCAN32,downstream_gene_variant,,ENST00000571906,;ZSCAN32,downstream_gene_variant,,ENST00000575350,;ZSCAN32,downstream_gene_variant,,ENST00000573719,;ZSCAN32,downstream_gene_variant,,ENST00000573830,;NAA60,intron_variant,,ENST00000576906,;ZSCAN32,3_prime_UTR_variant,,ENST00000576500,;ZSCAN32,non_coding_transcript_exon_variant,,ENST00000571285,;NAA60,intron_variant,,ENST00000575785,;ZSCAN32,downstream_gene_variant,,ENST00000574084,;							MODERATE	1682/2094	R349L	ZSC32_HUMAN			Transcript		benign(0.301)	.	ENSP00000380057		CCDS66921.1			1	
HNF1A	0	LGGM	GRCh37	12	121435275	121435275	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	3	3	.	.	ENST00000257555.6:c.1310-2A>C		p.X437_splice	ENST00000257555				0	1	1	UPI000013CF6C	0		ENST00000257555		ENSG00000135100	11621		6			HGNC	-		HNF1A		SNV			1				ENST00000257555	protein_coding							C		-/3442				E0YMJ2_HUMAN,E0YMJ1_HUMAN,B8YNW1_HUMAN,B8YNU9_HUMAN			YES	HNF1A,splice_acceptor_variant,,ENST00000257555,;HNF1A,splice_acceptor_variant,,ENST00000541395,NM_000545.5;HNF1A,splice_acceptor_variant,,ENST00000400024,;HNF1A,splice_acceptor_variant,,ENST00000544413,;HNF1A,3_prime_UTR_variant,,ENST00000402929,;HNF1A,intron_variant,,ENST00000538626,;HNF1A,intron_variant,,ENST00000535955,;C12orf43,downstream_gene_variant,,ENST00000445832,NM_001286197.1,NM_001286191.1,NM_001286192.1;HNF1A,downstream_gene_variant,,ENST00000543427,;RP11-216P16.2,downstream_gene_variant,,ENST00000606238,;HNF1A,splice_acceptor_variant,,ENST00000540108,;HNF1A,splice_acceptor_variant,,ENST00000560968,;HNF1A,splice_acceptor_variant,,ENST00000538646,;HNF1A,splice_acceptor_variant,,ENST00000541924,;HNF1A,splice_acceptor_variant,,ENST00000543255,;HNF1A,splice_acceptor_variant,,ENST00000544574,;							HIGH	1310/1896					Transcript			.	ENSP00000257555		CCDS9209.1			1	
EPN2	0	LGGM	GRCh37	17	19186802	19186802	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	13	3	.	.	ENST00000314728.5:c.370C>A	p.Arg124Ser	p.R124S	ENST00000314728	NM_014964.4	124	Cgt/Agt	0	1	1	UPI000013D197	0	getma.org/pdb.php?prot=EPN2_HUMAN&from=17&to=140&var=R124S	ENST00000314728		ENSG00000072134	18639		16	4.035		HGNC	p.R124S		EPN2		SNV							ENST00000314728	protein_coding	getma.org/?cm=var&var=hg19,17,19186802,C,A&fts=all		Gene3D:1.25.40.90,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01417,PROSITE_profiles:PS50942,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF50,SMART_domains:SM00273,Superfamily_domains:SSF48464		R/S		A	high	854/4871		getma.org/?cm=msa&ty=f&p=EPN2_HUMAN&rb=17&re=140&var=R124S	deleterious(0)	Q6NSL9_HUMAN,J3QRG9_HUMAN,J3QLN2_HUMAN,J3QKL8_HUMAN,J3KTF6_HUMAN,J3KSF8_HUMAN,J3KSC7_HUMAN,J3KSA6_HUMAN			YES	EPN2,missense_variant,p.Arg124Ser,ENST00000314728,NM_014964.4;EPN2,missense_variant,p.Arg124Ser,ENST00000347697,NM_148921.3;EPN2,missense_variant,p.Arg124Ser,ENST00000395620,;EPN2,missense_variant,p.Arg124Ser,ENST00000395626,;EPN2,missense_variant,p.Arg124Ser,ENST00000571254,;EPN2,missense_variant,p.Arg124Ser,ENST00000395628,;EPN2,intron_variant,,ENST00000395618,NM_001102664.1;EPN2,intron_variant,,ENST00000575595,;EPN2,intron_variant,,ENST00000494192,;EPN2,downstream_gene_variant,,ENST00000581024,;EPN2,downstream_gene_variant,,ENST00000583197,;EPN2,downstream_gene_variant,,ENST00000584707,;EPN2,downstream_gene_variant,,ENST00000577692,;EPN2,downstream_gene_variant,,ENST00000584150,;EPN2,downstream_gene_variant,,ENST00000577195,;EPN2,downstream_gene_variant,,ENST00000582015,;EPN2,downstream_gene_variant,,ENST00000584633,;EPN2,downstream_gene_variant,,ENST00000577244,;EPN2,downstream_gene_variant,,ENST00000582234,;EPN2,downstream_gene_variant,,ENST00000582969,;EPN2,non_coding_transcript_exon_variant,,ENST00000495155,;EPN2,intron_variant,,ENST00000580579,;							MODERATE	370/1926	R124S	EPN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000320543		CCDS11203.1			1	
ANK3	0	LGGM	GRCh37	10	61844952	61844952	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	25	3	.	.	ENST00000280772.2:c.3808A>C	p.Lys1270Gln	p.K1270Q	ENST00000280772	NM_020987.3	1270	Aaa/Caa	0	1	1	UPI0000141BA9	0	getma.org/pdb.php?prot=ANK3_HUMAN&from=1108&to=1272&var=K1270Q	ENST00000280772		ENSG00000151150	494		28	0.75		HGNC	p.K404Q		ANK3		SNV			1				ENST00000355288	protein_coding	getma.org/?cm=var&var=hg19,10,61844952,T,G&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		K/Q		G	neutral	4000/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=1108&re=1272&var=K1270Q		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Lys1270Gln,ENST00000280772,NM_020987.3;ANK3,missense_variant,p.Lys1264Gln,ENST00000373827,NM_001204403.1;ANK3,missense_variant,p.Lys1271Gln,ENST00000503366,NM_001204404.1;ANK3,missense_variant,p.Lys404Gln,ENST00000355288,NM_001149.3;ANK3,upstream_gene_variant,,ENST00000373820,;ANK3,downstream_gene_variant,,ENST00000467420,;ANK3,upstream_gene_variant,,ENST00000511043,;Y_RNA,downstream_gene_variant,,ENST00000365320,;ANK3,downstream_gene_variant,,ENST00000465749,;ANK3,upstream_gene_variant,,ENST00000508449,;							MODERATE	3808/13134	K1270Q	ANK3_HUMAN			Transcript		benign(0.184)	.	ENSP00000280772		CCDS7258.1			1	
APITD1	0	LGGM	GRCh37	1	10494724	10494724	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	33	3	.	.	ENST00000400900.2:c.186C>A	p.Ala62=	p.A62=	ENST00000400900		62	gcC/gcA	0	1		UPI000006CFC2	0		ENST00000309048		ENSG00000175279	23163		36			HGNC	p.A62A		APITD1		SNV							ENST00000470413	protein_coding			Gene3D:1.10.20.10,Pfam_domain:PF15630,hmmpanther:PTHR22980,hmmpanther:PTHR22980:SF3,Superfamily_domains:SSF47113		A		A		261/896				K7ESB0_HUMAN				APITD1,synonymous_variant,p.=,ENST00000602787,NM_198544.3;APITD1-CORT,synonymous_variant,p.=,ENST00000400900,;APITD1,synonymous_variant,p.=,ENST00000602296,NM_199006.2;APITD1,synonymous_variant,p.=,ENST00000477755,;APITD1,synonymous_variant,p.=,ENST00000309048,NM_199294.2,NM_001270517.1;APITD1-CORT,synonymous_variant,p.=,ENST00000470413,;APITD1-CORT,coding_sequence_variant,p.=,ENST00000602446,;RP4-736L20.3,upstream_gene_variant,,ENST00000607572,;APITD1,intron_variant,,ENST00000462462,;APITD1-CORT,intron_variant,,ENST00000465026,;APITD1,downstream_gene_variant,,ENST00000602486,;							LOW	186/417		CENPS_HUMAN			Transcript			.	ENSP00000308583		CCDS115.1			1	
ZFP36L1	0	LGGM	GRCh37	14	69256928	69256928	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	35	3	.	.	ENST00000439696.2:c.339C>T	p.Ser113=	p.S113=	ENST00000439696	NM_004926.3	113	agC/agT	0	1		UPI0000136FBC	0		ENST00000336440		ENSG00000185650	1107		38			HGNC	p.S113S		ZFP36L1		SNV							ENST00000439696	protein_coding			hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF53,Gene3D:1m9oA00,Superfamily_domains:SSF90229		S		A		2137/3026				G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN				ZFP36L1,synonymous_variant,p.=,ENST00000439696,NM_004926.3,NM_001244701.1;ZFP36L1,synonymous_variant,p.=,ENST00000336440,;ZFP36L1,synonymous_variant,p.=,ENST00000557086,;ZFP36L1,synonymous_variant,p.=,ENST00000553375,;ZFP36L1,synonymous_variant,p.=,ENST00000557022,;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,;ZFP36L1,downstream_gene_variant,,ENST00000408913,;							LOW	339/1017		TISB_HUMAN			Transcript			.	ENSP00000337386		CCDS9791.1			1	
SMU1	0	LGGM	GRCh37	9	33048189	33048189	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	29	3	.	.	ENST00000397149.3:c.1358G>T	p.Arg453Leu	p.R453L	ENST00000397149	NM_018225.2	453	cGt/cTt	0	1	1	UPI0000022E9B	0	NA	ENST00000397149		ENSG00000122692	18247		32	2.72		HGNC	p.R292L		SMU1		SNV							ENST00000536631	protein_coding	getma.org/?cm=var&var=hg19,9,33048189,C,A&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22848,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/L		A	medium	1409/7122		getma.org/?cm=msa&ty=f&p=SMU1_HUMAN&rb=378&re=473&var=R453L	deleterious(0.03)	B4E3L0_HUMAN,A0MNN4_HUMAN			YES	SMU1,missense_variant,p.Arg453Leu,ENST00000397149,NM_018225.2;SMU1,missense_variant,p.Arg292Leu,ENST00000536631,;							MODERATE	1358/1542	R453L	SMU1_HUMAN			Transcript		benign(0.037)	.	ENSP00000380336		CCDS6534.1			1	
FRY	0	LGGM	GRCh37	13	32808761	32808761	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	39	3	.	.	ENST00000380250.3:c.5578G>C	p.Ala1860Pro	p.A1860P	ENST00000380250	NM_023037.2	1860	Gca/Cca	0	1	1	UPI000046FD40	0	NA	ENST00000380250		ENSG00000073910	20367		42	0		HGNC	p.A1860P		FRY		SNV							ENST00000380250	protein_coding	getma.org/?cm=var&var=hg19,13,32808761,G,C&fts=all		Pfam_domain:PF14228,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29		A/P		C	neutral	6074/10735		getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=1771&re=1906&var=A1860P	deleterious(0.01)	Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,missense_variant,p.Ala1860Pro,ENST00000380250,NM_023037.2;							MODERATE	5578/9042	A1860P	FRY_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000369600		CCDS41875.1			1	
CILP2	0	LGGM	GRCh37	19	19655379	19655379	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	5	3	.	.	ENST00000291495.5:c.2025C>T	p.His675=	p.H675=	ENST00000291495	NM_153221.2	675	caC/caT	0	1	1	UPI000013E04D	0		ENST00000291495		ENSG00000160161	24213		8			HGNC	p.H681H	rs761269922	CILP2		SNV							ENST00000586018	protein_coding			hmmpanther:PTHR15031:SF0,hmmpanther:PTHR15031		H		T		2110/4199	1.94E-05						YES	CILP2,synonymous_variant,p.=,ENST00000586018,;CILP2,synonymous_variant,p.=,ENST00000291495,NM_153221.2;CILP2,downstream_gene_variant,,ENST00000588333,;							LOW	2025/3471		CILP2_HUMAN			Transcript			.	ENSP00000291495	8.40E-06	CCDS12405.1			1	
POLL	0	LGGM	GRCh37	10	103344460	103344460	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	22	3	.	.	ENST00000370162.3:c.790G>A	p.Ala264Thr	p.A264T	ENST00000370162	NM_001174084.1	264	Gcc/Acc	0	1		UPI00000398A1	0	getma.org/pdb.php?prot=DPOLL_HUMAN&from=201&to=334&var=A264T	ENST00000299206		ENSG00000166169	9184		25	2.3		HGNC	p.W121X		POLL		SNV							ENST00000436284	protein_coding	getma.org/?cm=var&var=hg19,10,103344460,C,T&fts=all		Gene3D:1.10.150.110,Pfam_domain:PF14716,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF18,SMART_domains:SM00483,Superfamily_domains:SSF47802		A/T		T	medium	1161/2670		getma.org/?cm=msa&ty=f&p=DPOLL_HUMAN&rb=201&re=334&var=A264T	tolerated(0.07)	Q5JQP8_HUMAN,Q5ZEY5_HUMAN,Q5JQP1_HUMAN,Q5JQP0_HUMAN,B4DE17_HUMAN				POLL,stop_gained,p.Trp121Ter,ENST00000436284,;POLL,stop_gained,p.Trp121Ter,ENST00000454524,;POLL,missense_variant,p.Ala264Thr,ENST00000370162,NM_001174084.1,NM_001174085.1,NM_013274.3;POLL,missense_variant,p.Ala264Thr,ENST00000299206,;POLL,missense_variant,p.Ala264Thr,ENST00000370169,;POLL,missense_variant,p.Ala176Thr,ENST00000370172,;POLL,missense_variant,p.Ala275Thr,ENST00000426919,;POLL,missense_variant,p.Ala264Thr,ENST00000413344,;POLL,intron_variant,,ENST00000339310,;POLL,intron_variant,,ENST00000370158,;POLL,intron_variant,,ENST00000456836,;DPCD,intron_variant,,ENST00000416979,;POLL,intron_variant,,ENST00000415897,;POLL,intron_variant,,ENST00000429502,;POLL,upstream_gene_variant,,ENST00000370168,;POLL,downstream_gene_variant,,ENST00000430045,;DPCD,upstream_gene_variant,,ENST00000370151,NM_015448.1;DPCD,upstream_gene_variant,,ENST00000370147,;DPCD,upstream_gene_variant,,ENST00000370148,;POLL,non_coding_transcript_exon_variant,,ENST00000485369,;POLL,intron_variant,,ENST00000470140,;DPCD,intron_variant,,ENST00000470165,;POLL,upstream_gene_variant,,ENST00000463515,;POLL,downstream_gene_variant,,ENST00000461587,;							MODERATE	790/1728	A264T	DPOLL_HUMAN			Transcript		benign(0.442)	.	ENSP00000299206		CCDS7513.1			1	
APCDD1	0	LGGM	GRCh37	18	10471671	10471671	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	24	3	.	.	ENST00000355285.5:c.387C>A	p.Arg129=	p.R129=	ENST00000355285	NM_153000.4	129	cgC/cgA	0	1	1	UPI000000D766	0		ENST00000355285		ENSG00000154856	15718		27			HGNC	p.R129R		APCDD1		SNV			1				ENST00000578882	protein_coding			hmmpanther:PTHR31021,hmmpanther:PTHR31021:SF2,Pfam_domain:PF14921		R		A		741/3809							YES	APCDD1,synonymous_variant,p.=,ENST00000355285,NM_153000.4;APCDD1,synonymous_variant,p.=,ENST00000578882,;APCDD1,upstream_gene_variant,,ENST00000584596,;APCDD1,3_prime_UTR_variant,,ENST00000582723,;APCDD1,intron_variant,,ENST00000423585,;APCDD1,upstream_gene_variant,,ENST00000579685,;							LOW	387/1545		APCD1_HUMAN			Transcript			.	ENSP00000347433		CCDS11849.1			1	
OR13D1	0	LGGM	GRCh37	9	107457346	107457346	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	77	4	.	.	ENST00000318763.5:c.644C>T	p.Ala215Val	p.A215V	ENST00000318763	NM_001004484.1	215	gCc/gTc	0	1	1	UPI0000061E68	0	NA	ENST00000318763		ENSG00000179055	14695		81	2.23		HGNC	p.A215V		OR13D1		SNV							ENST00000318763	protein_coding	getma.org/?cm=var&var=hg19,9,107457346,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF129,Superfamily_domains:SSF81321		A/V		T	medium	687/1107		getma.org/?cm=msa&ty=f&p=O13D1_HUMAN&rb=171&re=315&var=A215V	deleterious(0.02)				YES	OR13D1,missense_variant,p.Ala215Val,ENST00000318763,NM_001004484.1;							MODERATE	644/1041	A215V	O13D1_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000317357		CCDS35094.1			1	
RNF187	0	LGGM	GRCh37	1	228680961	228680961	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	11	4	.	.	ENST00000305943.7:c.364A>C	p.Ser122Arg	p.S122R	ENST00000305943	NM_001010858.2	122	Agc/Cgc	0	1	1	UPI0000470B86	0	NA	ENST00000305943		ENSG00000168159	27146		15	0		HGNC	p.S122R		RNF187		SNV							ENST00000305943	protein_coding	getma.org/?cm=var&var=hg19,1,228680961,A,C&fts=all				S/R		C	neutral	1119/3017		getma.org/?cm=msa&ty=f&p=RN187_HUMAN&rb=53&re=235&var=S231R	deleterious_low_confidence(0)				YES	RNF187,missense_variant,p.Ser122Arg,ENST00000305943,NM_001010858.2;RNF187,non_coding_transcript_exon_variant,,ENST00000482739,;RNF187,non_coding_transcript_exon_variant,,ENST00000484293,;RNF187,non_coding_transcript_exon_variant,,ENST00000493597,;							MODERATE	364/381	S231R	RN187_HUMAN			Transcript		benign(0.198)	.	ENSP00000306396					1	
PINK1	0	LGGM	GRCh37	1	20975566	20975566	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	10	4	.	.	ENST00000321556.4:c.1330T>A	p.Tyr444Asn	p.Y444N	ENST00000321556	NM_032409.2	444	Tat/Aat	0	1	1	UPI0000035BA9	0	getma.org/pdb.php?prot=PINK1_HUMAN&from=262&to=509&var=Y444N	ENST00000321556		ENSG00000158828	14581		14	3.59		HGNC	p.Y444N		PINK1		SNV			1				ENST00000321556	protein_coding	getma.org/?cm=var&var=hg19,1,20975566,T,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22972,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/N		A	high	1424/2660		getma.org/?cm=msa&ty=f&p=PINK1_HUMAN&rb=262&re=509&var=Y444N	deleterious(0)				YES	PINK1,missense_variant,p.Tyr444Asn,ENST00000321556,NM_032409.2;DDOST,downstream_gene_variant,,ENST00000375048,NM_005216.4;DDOST,downstream_gene_variant,,ENST00000602624,;DDOST,downstream_gene_variant,,ENST00000415136,;PINK1,non_coding_transcript_exon_variant,,ENST00000492302,;PINK1,non_coding_transcript_exon_variant,,ENST00000400490,;DDOST,downstream_gene_variant,,ENST00000475210,;PINK1-AS,non_coding_transcript_exon_variant,,ENST00000451424,;AL391357.1,downstream_gene_variant,,ENST00000535128,;							MODERATE	1330/1746	Y444N	PINK1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000364204		CCDS211.1			1	
LINC00842	0	LGGM	GRCh37	10	47151432	47151432	+	upstream_gene_variant	5'Flank	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	9	4	.	.				ENST00000422732				0	1	1		0		ENST00000422732		ENSG00000223477	44989		13		32	HGNC	p.Q139Q		LINC00842		SNV							ENST00000319426	lincRNA							T		-/2877							YES	LINC00842,non_coding_transcript_exon_variant,,ENST00000319426,;LINC00842,intron_variant,,ENST00000503031,;LINC00842,upstream_gene_variant,,ENST00000422732,;							MODIFIER						Transcript			.						1	
SARDH	0	LGGM	GRCh37	9	136532016	136532016	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	9	5	.	.	ENST00000371872.4:c.2496-24A>C		*832*	ENST00000371872	NM_007101.3			0	1	1	UPI000006F076	0		ENST00000371872		ENSG00000123453	10536		14			HGNC	p.P274P		SARDH		SNV			1				ENST00000371868	protein_coding							G		-/3344				Q5SYV1_HUMAN,B4DPI2_HUMAN			YES	SARDH,synonymous_variant,p.=,ENST00000371868,;SARDH,intron_variant,,ENST00000371872,NM_007101.3;SARDH,intron_variant,,ENST00000439388,NM_001134707.1;SARDH,intron_variant,,ENST00000422262,;SARDH,non_coding_transcript_exon_variant,,ENST00000469828,;							MODIFIER	-/2757		SARDH_HUMAN			Transcript			.	ENSP00000360938		CCDS6978.1			1	
GPC1	0	LGGM	GRCh37	2	241401911	241401911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	7	5	.	.	ENST00000264039.2:c.629G>A	p.Arg210His	p.R210H	ENST00000264039	NM_002081.2	210	cGc/cAc	0	1	1	UPI000013D4AA	0	getma.org/pdb.php?prot=GPC1_HUMAN&from=8&to=557&var=R210H	ENST00000264039		ENSG00000063660	4449		12	1.965		HGNC	p.R210H	rs756261804	GPC1		SNV			1				ENST00000264039	protein_coding	getma.org/?cm=var&var=hg19,2,241401911,G,A&fts=all		Pfam_domain:PF01153,hmmpanther:PTHR10822,hmmpanther:PTHR10822:SF8		R/H		A	medium	877/3711	8.11E-05	getma.org/?cm=msa&ty=f&p=GPC1_HUMAN&rb=8&re=557&var=R210H	deleterious(0.01)				YES	GPC1,missense_variant,p.Arg210His,ENST00000264039,NM_002081.2;GPC1,missense_variant,p.Arg250His,ENST00000420138,;GPC1,missense_variant,p.Arg206His,ENST00000425056,;GPC1,missense_variant,p.Arg167His,ENST00000427506,;GPC1,upstream_gene_variant,,ENST00000455111,;GPC1,downstream_gene_variant,,ENST00000426280,;GPC1,upstream_gene_variant,,ENST00000466624,;GPC1,non_coding_transcript_exon_variant,,ENST00000495100,;GPC1,non_coding_transcript_exon_variant,,ENST00000469694,;	0.000303						MODERATE	629/1677	R210H	GPC1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000264039	5.02E-05	CCDS2534.1			1	
KIF5B	0	LGGM	GRCh37	10	32327744	32327744	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	17	5	.	.	ENST00000302418.4:c.404T>G	p.Phe135Cys	p.F135C	ENST00000302418	NM_004521.2	135	tTt/tGt	0	1	1	UPI000012DE68	0	getma.org/pdb.php?prot=KINH_HUMAN&from=14&to=325&var=F135C	ENST00000302418		ENSG00000170759	6324		22	1.355		HGNC	p.F135C		KIF5B		SNV							ENST00000302418	protein_coding	getma.org/?cm=var&var=hg19,10,32327744,A,C&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540		F/C		C	low	862/5877		getma.org/?cm=msa&ty=f&p=KINH_HUMAN&rb=14&re=325&var=F135C	deleterious(0)	A8K048_HUMAN			YES	KIF5B,missense_variant,p.Phe135Cys,ENST00000302418,NM_004521.2;							MODERATE	404/2892	F135C	KINH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307078		CCDS7171.1			1	
FANCF	0	LGGM	GRCh37	11	22647237	22647237	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	16	5	.	.	ENST00000327470.3:c.120C>T	p.Tyr40=	p.Y40=	ENST00000327470	NM_022725.3	40	taC/taT	0	1	1	UPI000012A4CA	0		ENST00000327470		ENSG00000183161	3587		21			HGNC	p.Y40Y		FANCF		SNV			1				ENST00000327470	protein_coding			Pfam_domain:PF11107,hmmpanther:PTHR14449,hmmpanther:PTHR14449:SF2		Y		A		151/3309				A3KME0_HUMAN			YES	FANCF,synonymous_variant,p.=,ENST00000327470,NM_022725.3;GAS2,5_prime_UTR_variant,,ENST00000528582,;AC103801.2,3_prime_UTR_variant,,ENST00000428556,;							LOW	120/1125		FANCF_HUMAN			Transcript			.	ENSP00000330875		CCDS7857.1			1	
CD8A	0	LGGM	GRCh37	2	87017474	87017474	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	10	5	.	.	ENST00000409511.2:c.380A>T	p.His127Leu	p.H127L	ENST00000409511	NM_001145873.1	127	cAc/cTc	0	1		UPI00001273B4	0	getma.org/pdb.php?prot=CD8A_HUMAN&from=21&to=131&var=H127L	ENST00000283635		ENSG00000153563	1706		15	0		HGNC	p.H127L		CD8A		SNV			1				ENST00000283635	protein_coding	getma.org/?cm=var&var=hg19,2,87017474,T,A&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR10441,hmmpanther:PTHR10441:SF1,SMART_domains:SM00409,Superfamily_domains:SSF48726		H/L		A	neutral	1235/2873		getma.org/?cm=msa&ty=f&p=CD8A_HUMAN&rb=21&re=131&var=H127L	deleterious(0)					CD8A,missense_variant,p.His127Leu,ENST00000409511,NM_001145873.1;CD8A,missense_variant,p.His127Leu,ENST00000456996,;CD8A,missense_variant,p.His127Leu,ENST00000283635,NM_001768.6;CD8A,missense_variant,p.His127Leu,ENST00000352580,NM_171827.3;CD8A,missense_variant,p.His168Leu,ENST00000538832,;CD8A,missense_variant,p.His127Leu,ENST00000409781,;							MODERATE	380/708	H127L	CD8A_HUMAN			Transcript		benign(0.004)	.	ENSP00000283635		CCDS1992.1			1	
TSC1	0	LGGM	GRCh37	9	135782711	135782711	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	7	5	.	.	ENST00000298552.3:c.1310A>T	p.His437Leu	p.H437L	ENST00000298552	NM_001162426.1	437	cAt/cTt	0	1	1	UPI000013773E	0	NA	ENST00000298552		ENSG00000165699	12362		12	0.69		HGNC	p.H437L		TSC1		SNV			1				ENST00000440111	protein_coding	getma.org/?cm=var&var=hg19,9,135782711,T,A&fts=all		Pfam_domain:PF04388,hmmpanther:PTHR15154		H/L		A	neutral	1532/8604		getma.org/?cm=msa&ty=f&p=TSC1_HUMAN&rb=2&re=719&var=H437L	tolerated(0.5)				YES	TSC1,missense_variant,p.His437Leu,ENST00000298552,NM_001162426.1,NM_001162427.1,NM_000368.4;TSC1,missense_variant,p.His437Leu,ENST00000440111,;TSC1,missense_variant,p.His386Leu,ENST00000545250,;TSC1,downstream_gene_variant,,ENST00000403810,;TSC1,downstream_gene_variant,,ENST00000493467,;							MODERATE	1310/3495	H437L	TSC1_HUMAN			Transcript		benign(0.014)	.	ENSP00000298552		CCDS6956.1			1	
PCSK2	0	LGGM	GRCh37	20	17434459	17434459	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	14	6	.	.	ENST00000262545.2:c.958G>C	p.Asp320His	p.D320H	ENST00000262545	NM_002594.3	320	Gac/Cac	0	1	1	UPI0000000C6E	0	getma.org/pdb.php?prot=NEC2_HUMAN&from=162&to=454&var=D320H	ENST00000262545		ENSG00000125851	8744		20	2.875		HGNC	p.D320H		PCSK2		SNV							ENST00000262545	protein_coding	getma.org/?cm=var&var=hg19,20,17434459,G,C&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF00082,Gene3D:3.40.50.200,Superfamily_domains:SSF52743		D/H		C	medium	1273/4740		getma.org/?cm=msa&ty=f&p=NEC2_HUMAN&rb=162&re=454&var=D320H	deleterious(0)	Q9UM69_HUMAN			YES	PCSK2,missense_variant,p.Asp320His,ENST00000262545,NM_002594.3;PCSK2,missense_variant,p.Asp301His,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Asp285His,ENST00000536609,NM_001201529.1;							MODERATE	958/1917	D320H	NEC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262545		CCDS13125.1			1	
TFR2	0	LGGM	GRCh37	7	100218574	100218574	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	11	6	.	.	ENST00000462107.1:c.2312G>A	p.Arg771His	p.R771H	ENST00000462107		771	cGt/cAt	0	1		UPI0000136C99	0	getma.org/pdb.php?prot=TFR2_HUMAN&from=668&to=793&var=R771H	ENST00000223051		ENSG00000106327	11762		17	0.345		HGNC	p.R771H		TFR2		SNV			1				ENST00000462107	protein_coding	getma.org/?cm=var&var=hg19,7,100218574,C,T&fts=all		Superfamily_domains:SSF47672,Pfam_domain:PF04253,Gene3D:3kasA03,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF33		R/H		T	neutral	2353/2888		getma.org/?cm=msa&ty=f&p=TFR2_HUMAN&rb=668&re=793&var=R771H	tolerated(0.07)					TFR2,missense_variant,p.Arg771His,ENST00000462107,;TFR2,missense_variant,p.Arg771His,ENST00000223051,NM_003227.3,NM_001206855.1;TFR2,missense_variant,p.Arg312His,ENST00000544242,;TFR2,3_prime_UTR_variant,,ENST00000431692,;TFR2,3_prime_UTR_variant,,ENST00000490084,;TFR2,non_coding_transcript_exon_variant,,ENST00000465294,;TFR2,non_coding_transcript_exon_variant,,ENST00000476304,;TFR2,non_coding_transcript_exon_variant,,ENST00000462090,;							MODERATE	2312/2406	R771H	TFR2_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000223051		CCDS34707.1			1	
CLTCL1	0	LGGM	GRCh37	22	19209050	19209050	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	7	6	.	.	ENST00000263200.10:c.2646C>A	p.Ile882=	p.I882=	ENST00000263200	NM_007098.3	882	atC/atA	0	1		UPI0000127ABE	0		ENST00000427926		ENSG00000070371	2093		13			HGNC	p.I882I		CLTCL1		SNV							ENST00000353891	protein_coding			PROSITE_profiles:PS50236,hmmpanther:PTHR10292:SF6,hmmpanther:PTHR10292,Pfam_domain:PF00637,Gene3D:1.25.40.10,SMART_domains:SM00299,PIRSF_domain:PIRSF002290,Superfamily_domains:SSF48371		I		T		2721/5512								CLTCL1,synonymous_variant,p.=,ENST00000263200,NM_007098.3;CLTCL1,synonymous_variant,p.=,ENST00000427926,;CLTCL1,synonymous_variant,p.=,ENST00000353891,NM_001835.3;CLTCL1,synonymous_variant,p.=,ENST00000505027,;CLTCL1,non_coding_transcript_exon_variant,,ENST00000413132,;CLTCL1,downstream_gene_variant,,ENST00000458188,;							LOW	2646/4923		CLH2_HUMAN			Transcript			.	ENSP00000441158					1	
ACOT11	0	LGGM	GRCh37	1	55070097	55070097	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	15	6	.	.	ENST00000371316.3:c.1231A>C	p.Ser411Arg	p.S411R	ENST00000371316	NM_015547.3	411	Agt/Cgt	0	1	1	UPI0000136D55	0	getma.org/pdb.php?prot=ACO11_HUMAN&from=384&to=590&var=S411R	ENST00000371316		ENSG00000162390	18156		21	0.69		HGNC	p.S411R		ACOT11		SNV							ENST00000343744	protein_coding	getma.org/?cm=var&var=hg19,1,55070097,A,C&fts=all		PROSITE_profiles:PS50848,hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF1,Gene3D:3.30.530.20,Pfam_domain:PF01852,SMART_domains:SM00234,Superfamily_domains:SSF55961		S/R		C	neutral	1313/6369		getma.org/?cm=msa&ty=f&p=ACO11_HUMAN&rb=384&re=590&var=S411R	tolerated(0.24)				YES	ACOT11,missense_variant,p.Ser411Arg,ENST00000371316,NM_015547.3;ACOT11,missense_variant,p.Ser411Arg,ENST00000343744,NM_147161.3;FAM151A,downstream_gene_variant,,ENST00000302250,NM_176782.2;FAM151A,downstream_gene_variant,,ENST00000371304,;ACOT11,non_coding_transcript_exon_variant,,ENST00000481208,;ACOT11,downstream_gene_variant,,ENST00000479837,;							MODERATE	1231/1824	S411R	ACO11_HUMAN			Transcript		benign(0.108)	.	ENSP00000360366		CCDS592.1			1	
ANKRD18A	0	LGGM	GRCh37	9	38595791	38595791	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	147	7	.	.	ENST00000399703.5:c.1546C>A	p.His516Asn	p.H516N	ENST00000399703	NM_147195.2	516	Cat/Aat	0	1	1	UPI00001AF4AF	0	NA	ENST00000399703		ENSG00000180071	23643		154	0.895		HGNC	p.H516N		ANKRD18A		SNV							ENST00000399703	protein_coding	getma.org/?cm=var&var=hg19,9,38595791,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF3,Pfam_domain:PF14915		H/N		T	low	1921/4041		getma.org/?cm=msa&ty=f&p=AN18B_HUMAN&rb=283&re=871&var=H525N	tolerated(1)				YES	ANKRD18A,missense_variant,p.His516Asn,ENST00000399703,NM_147195.2;ANKRD18A,upstream_gene_variant,,ENST00000602295,;							MODERATE	1546/2979	H525N	AN18A_HUMAN			Transcript		benign(0.014)	.	ENSP00000382610		CCDS55311.1			1	
KAT6B	0	LGGM	GRCh37	10	76781671	76781671	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	11	7	.	.	ENST00000287239.4:c.3054G>C	p.Trp1018Cys	p.W1018C	ENST00000287239	NM_001256468.1	1018	tgG/tgC	0	1	1	UPI000013DEA0	0	NA	ENST00000287239		ENSG00000156650	17582		18	1.3		HGNC	p.W726C		KAT6B		SNV			1				ENST00000372724	protein_coding	getma.org/?cm=var&var=hg19,10,76781671,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615		W/C		C	low	3543/8287		getma.org/?cm=msa&ty=f&p=KAT6B_HUMAN&rb=1001&re=1200&var=W1018C					YES	KAT6B,missense_variant,p.Trp1018Cys,ENST00000287239,NM_001256468.1,NM_012330.3;KAT6B,missense_variant,p.Trp835Cys,ENST00000372711,;KAT6B,missense_variant,p.Trp726Cys,ENST00000372724,NM_001256469.1;KAT6B,missense_variant,p.Trp726Cys,ENST00000372725,;KAT6B,missense_variant,p.Trp726Cys,ENST00000372714,;RP11-77G23.2,intron_variant,,ENST00000413431,;RP11-77G23.5,downstream_gene_variant,,ENST00000436608,;KAT6B,non_coding_transcript_exon_variant,,ENST00000490365,;							MODERATE	3054/6222	W1018C	KAT6B_HUMAN			Transcript		possibly_damaging(0.593)	.	ENSP00000287239		CCDS7345.1			1	
CHD6	0	LGGM	GRCh37	20	40112112	40112112	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	17	7	.	.	ENST00000373233.3:c.2305G>A	p.Asp769Asn	p.D769N	ENST00000373233	NM_032221.4	769	Gat/Aat	0	1	1	UPI0000168656	0	getma.org/pdb.php?prot=CHD6_HUMAN&from=752&to=816&var=D769N	ENST00000373233		ENSG00000124177	19057		24	0.64		HGNC	p.D769N		CHD6		SNV							ENST00000373233	protein_coding	getma.org/?cm=var&var=hg19,20,40112112,C,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589,Superfamily_domains:SSF52540		D/N		T	neutral	2483/10818		getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=752&re=816&var=D769N	tolerated(0.06)				YES	CHD6,missense_variant,p.Asp769Asn,ENST00000373233,NM_032221.4;CHD6,intron_variant,,ENST00000309279,;CHD6,intron_variant,,ENST00000440697,;CHD6,non_coding_transcript_exon_variant,,ENST00000476641,;							MODERATE	2305/8148	D769N	CHD6_HUMAN			Transcript		benign(0.034)	.	ENSP00000362330		CCDS13317.1			1	
WSCD2	0	LGGM	GRCh37	12	108642029	108642029	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	8	7	.	.	ENST00000332082.4:c.1607A>G	p.Gln536Arg	p.Q536R	ENST00000332082		536	cAg/cGg	0	1	1	UPI00001C1F3A	0	NA	ENST00000332082		ENSG00000075035	29117		15	-1.355		HGNC	p.Q536R		WSCD2		SNV							ENST00000332082	protein_coding	getma.org/?cm=var&var=hg19,12,108642029,A,G&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,Superfamily_domains:SSF52540		Q/R		G	neutral	2425/4710		getma.org/?cm=msa&ty=f&p=WSCD2_HUMAN&rb=515&re=565&var=Q536R	tolerated(1)	F8W030_HUMAN			YES	WSCD2,missense_variant,p.Gln536Arg,ENST00000332082,;WSCD2,missense_variant,p.Gln556Arg,ENST00000261400,;WSCD2,missense_variant,p.Gln536Arg,ENST00000547525,NM_014653.2;WSCD2,missense_variant,p.Gln556Arg,ENST00000549903,;							MODERATE	1607/1698	Q536R	WSCD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000331933		CCDS41828.1			1	
TTC38	0	LGGM	GRCh37	22	46668268	46668268	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	16	8	.	.	ENST00000381031.3:c.148A>T	p.Ile50Phe	p.I50F	ENST00000381031	NM_017931.2	50	Atc/Ttc	0	1	1	UPI0000470C96	0	NA	ENST00000381031		ENSG00000075234	26082		24	1.495		HGNC	p.I50F		TTC38		SNV							ENST00000421359	protein_coding	getma.org/?cm=var&var=hg19,22,46668268,A,T&fts=all		hmmpanther:PTHR16263,hmmpanther:PTHR16263:SF4		I/F		T	low	224/2610		getma.org/?cm=msa&ty=f&p=TTC38_HUMAN&rb=1&re=179&var=I50F	tolerated(0.08)				YES	TTC38,missense_variant,p.Ile50Phe,ENST00000381031,NM_017931.2;TTC38,missense_variant,p.Ile50Phe,ENST00000445282,;TTC38,missense_variant,p.Ile50Phe,ENST00000421359,;TTC38,3_prime_UTR_variant,,ENST00000417709,;TTC38,upstream_gene_variant,,ENST00000422713,;TTC38,downstream_gene_variant,,ENST00000475467,;							MODERATE	148/1410	I50F	TTC38_HUMAN			Transcript		benign(0.044)	.	ENSP00000370419		CCDS43030.1			1	
SEC24D	0	LGGM	GRCh37	4	119736860	119736860	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	9	8	.	.	ENST00000280551.6:c.419G>A	p.Ser140Asn	p.S140N	ENST00000280551		140	aGc/aAc	0	1	1	UPI00001AEA4F	0	NA	ENST00000280551		ENSG00000150961	10706		17	0		HGNC	p.S140N		SEC24D		SNV			1				ENST00000379735	protein_coding	getma.org/?cm=var&var=hg19,4,119736860,C,T&fts=all		hmmpanther:PTHR13803:SF6,hmmpanther:PTHR13803		S/N		T	neutral	658/4030		getma.org/?cm=msa&ty=f&p=SC24D_HUMAN&rb=138&re=196&var=S140N	tolerated(0.15)	E9PDM8_HUMAN,D6RGJ5_HUMAN			YES	SEC24D,missense_variant,p.Ser140Asn,ENST00000379735,NM_014822.2;SEC24D,missense_variant,p.Ser140Asn,ENST00000280551,;SEC24D,missense_variant,p.Ser140Asn,ENST00000503683,;SEC24D,5_prime_UTR_variant,,ENST00000419654,;SEC24D,missense_variant,p.Ala176Thr,ENST00000506622,;SEC24D,synonymous_variant,p.=,ENST00000509818,;SEC24D,3_prime_UTR_variant,,ENST00000514561,;							MODERATE	419/3099	S140N	SC24D_HUMAN			Transcript		benign(0.002)	.	ENSP00000280551		CCDS3710.1			1	
DLGAP4	0	LGGM	GRCh37	20	35075239	35075239	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	8	9	.	.	ENST00000373913.3:c.1547C>T	p.Ala516Val	p.A516V	ENST00000373913		516	gCc/gTc	0	1		UPI0000206454	0	NA	ENST00000339266		ENSG00000080845	24476		17	2.555		HGNC	p.A516V		DLGAP4		SNV							ENST00000401952	protein_coding	getma.org/?cm=var&var=hg19,20,35075239,C,T&fts=all		hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353		A/V		T	medium	1547/4583		getma.org/?cm=msa&ty=f&p=DLGP4_HUMAN&rb=401&re=600&var=A516V	deleterious(0)					DLGAP4,missense_variant,p.Ala516Val,ENST00000373913,;DLGAP4,missense_variant,p.Ala516Val,ENST00000401952,NM_014902.4;DLGAP4,missense_variant,p.Ala516Val,ENST00000339266,;DLGAP4,missense_variant,p.Ala516Val,ENST00000373907,;							MODERATE	1547/2979	A516V	DLGP4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000341633					1	
CDH8	0	LGGM	GRCh37	16	62055239	62055239	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	28	9	.	.	ENST00000577390.1:c.69T>C	p.Leu23=	p.L23=	ENST00000577390	NM_001796.4	23	ctT/ctC	0	1	1	UPI0000126D9F	0		ENST00000577390		ENSG00000150394	1767		37			HGNC	p.L23L		CDH8		SNV							ENST00000299345	protein_coding			Low_complexity_(Seg):seg		L		G		1024/9721				J3KTG8_HUMAN,J3KT81_HUMAN			YES	CDH8,synonymous_variant,p.=,ENST00000577390,NM_001796.4;CDH8,synonymous_variant,p.=,ENST00000577730,;CDH8,synonymous_variant,p.=,ENST00000584337,;CDH8,synonymous_variant,p.=,ENST00000299345,;CDH8,synonymous_variant,p.=,ENST00000583382,;CDH8,synonymous_variant,p.=,ENST00000584506,;CDH8,synonymous_variant,p.=,ENST00000585315,;CDH8,non_coding_transcript_exon_variant,,ENST00000584966,;							LOW	69/2400		CADH8_HUMAN			Transcript			.	ENSP00000462701		CCDS10802.1			1	
XIRP2	0	LGGM	GRCh37	2	167760197	167760197	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	17	9	.	.	ENST00000409195.1:c.205G>T	p.Glu69Ter	p.E69*	ENST00000409195	NM_152381.5	69	Gag/Tag	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		26			HGNC	p.E69X		XIRP2		SNV							ENST00000409756	protein_coding					E/*		T		294/12675				J3KNB1_HUMAN			YES	XIRP2,stop_gained,p.Glu69Ter,ENST00000409195,NM_152381.5;XIRP2,stop_gained,p.Glu69Ter,ENST00000295237,;XIRP2,stop_gained,p.Glu69Ter,ENST00000409728,NM_001199143.1;XIRP2,stop_gained,p.Glu69Ter,ENST00000409043,NM_001079810.3;XIRP2,stop_gained,p.Glu69Ter,ENST00000409756,;XIRP2,stop_gained,p.Glu69Ter,ENST00000420519,;							HIGH	205/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
CUBN	0	LGGM	GRCh37	10	17089474	17089474	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	21	9	.	.	ENST00000377833.4:c.3268T>A	p.Phe1090Ile	p.F1090I	ENST00000377833	NM_001081.3	1090	Ttc/Atc	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=1048&to=1158&var=F1090I	ENST00000377833		ENSG00000107611	2548		30	2.09		HGNC	p.F1090I		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,17089474,A,T&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854		F/I		T	medium	3334/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1048&re=1158&var=F1090I	deleterious(0.03)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Phe1090Ile,ENST00000377833,NM_001081.3;							MODERATE	3268/10872	F1090I	CUBN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367064		CCDS7113.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	18	35	.	.	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33P	ENST00000349496		ENSG00000168036	2514		53	2.46		HGNC	p.S33P	COSM5682	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33P	CTNB1_HUMAN			Transcript		benign(0.423)	.	ENSP00000344456		CCDS2694.1			1	
ITIH4	0	LGGM	GRCh37	3	52858017	52858017	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	23	10	.	.	ENST00000266041.4:c.1175A>G	p.Glu392Gly	p.E392G	ENST00000266041	NM_002218.4	392	gAg/gGg	0	1	1	UPI000013D6C3	0	getma.org/pdb.php?prot=ITIH4_HUMAN&from=274&to=457&var=E392G	ENST00000266041		ENSG00000055955	6169		33	2.835		HGNC	p.E392G		ITIH4		SNV							ENST00000406595	protein_coding	getma.org/?cm=var&var=hg19,3,52858017,T,C&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98,SMART_domains:SM00327,Superfamily_domains:SSF53300		E/G		C	medium	1272/3336		getma.org/?cm=msa&ty=f&p=ITIH4_HUMAN&rb=274&re=457&var=E392G	deleterious(0)				YES	ITIH4,missense_variant,p.Glu392Gly,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.Glu392Gly,ENST00000346281,NM_001166449.1;ITIH4,missense_variant,p.Glu392Gly,ENST00000485816,;ITIH4,missense_variant,p.Glu392Gly,ENST00000406595,;ITIH4,missense_variant,p.Glu250Gly,ENST00000441637,;ITIH4,missense_variant,p.Glu304Gly,ENST00000434759,;ITIH4-AS1,splice_region_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,;							MODERATE	1175/2793	E392G	ITIH4_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000266041		CCDS2865.1			1	
SNX7	0	LGGM	GRCh37	1	99164297	99164297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	18	10	.	.	ENST00000306121.3:c.874C>T	p.His292Tyr	p.H292Y	ENST00000306121	NM_015976.4	292	Cat/Tat	0	1	1	UPI0000205396	0	NA	ENST00000306121		ENSG00000162627	14971		28	-1.265		HGNC	p.H228Y		SNX7		SNV							ENST00000370189	protein_coding	getma.org/?cm=var&var=hg19,1,99164297,C,T&fts=all		hmmpanther:PTHR10555:SF21,hmmpanther:PTHR10555		H/Y		T	neutral	883/1734		getma.org/?cm=msa&ty=f&p=SNX7_HUMAN&rb=148&re=347&var=H228Y	tolerated(1)	B7ZC83_HUMAN			YES	SNX7,missense_variant,p.His228Tyr,ENST00000370189,;SNX7,missense_variant,p.His292Tyr,ENST00000306121,NM_015976.4;SNX7,missense_variant,p.His237Tyr,ENST00000529992,NM_152238.3;SNX7,3_prime_UTR_variant,,ENST00000528824,;							MODERATE	874/1356	H228Y	SNX7_HUMAN			Transcript		benign(0.002)	.	ENSP00000304429		CCDS755.2			1	
CLK2	0	LGGM	GRCh37	1	155234528	155234528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	41	10	.	.	ENST00000361168.5:c.968G>T	p.Arg323Leu	p.R323L	ENST00000361168		323	cGg/cTg	0	1		UPI0000127AD2	0	getma.org/pdb.php?prot=CLK2_HUMAN&from=163&to=479&var=R324L	ENST00000368361		ENSG00000176444	2069		51	1.79		HGNC	p.R324L		CLK2		SNV							ENST00000536801	protein_coding	getma.org/?cm=var&var=hg19,1,155234528,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF26,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/L		A	low	1287/2166		getma.org/?cm=msa&ty=f&p=CLK2_HUMAN&rb=163&re=479&var=R324L	deleterious(0)	Q9BRG8_HUMAN,B7Z8N6_HUMAN,A8K7I0_HUMAN				CLK2,missense_variant,p.Arg324Leu,ENST00000368361,;CLK2,missense_variant,p.Arg322Leu,ENST00000355560,NM_003993.2;CLK2,missense_variant,p.Arg323Leu,ENST00000361168,;CLK2,missense_variant,p.Arg324Leu,ENST00000536801,;SCAMP3,upstream_gene_variant,,ENST00000355379,NM_052837.2;SCAMP3,upstream_gene_variant,,ENST00000302631,NM_005698.3;CLK2,non_coding_transcript_exon_variant,,ENST00000497188,;CLK2,non_coding_transcript_exon_variant,,ENST00000476983,;SCAMP3,upstream_gene_variant,,ENST00000472397,;SCAMP3,upstream_gene_variant,,ENST00000490999,;SCAMP3,upstream_gene_variant,,ENST00000497470,;SCAMP3,upstream_gene_variant,,ENST00000462151,;SCAMP3,upstream_gene_variant,,ENST00000480219,;SCAMP3,upstream_gene_variant,,ENST00000465312,;CLK2,downstream_gene_variant,,ENST00000471047,;CLK2,downstream_gene_variant,,ENST00000484699,;							MODERATE	971/1500	R324L	CLK2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000357345					1	
UBA6	0	LGGM	GRCh37	4	68544181	68544181	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	16	10	.	.	ENST00000322244.5:c.329A>G	p.Asp110Gly	p.D110G	ENST00000322244	NM_018227.5	110	gAt/gGt	0	1	1	UPI000004A4F7	0	getma.org/pdb.php?prot=UBA6_HUMAN&from=60&to=198&var=D110G	ENST00000322244		ENSG00000033178	25581		26	1.285		HGNC	p.D110G		UBA6		SNV							ENST00000322244	protein_coding	getma.org/?cm=var&var=hg19,4,68544181,T,C&fts=all		hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:3.40.50.720,TIGRFAM_domain:TIGR01408,Pfam_domain:PF00899,Superfamily_domains:SSF69572		D/G		C	low	389/9564		getma.org/?cm=msa&ty=f&p=UBA6_HUMAN&rb=60&re=198&var=D110G	tolerated(0.09)	B3KSS1_HUMAN			YES	UBA6,missense_variant,p.Asp110Gly,ENST00000322244,NM_018227.5;UBA6,missense_variant,p.Asp110Gly,ENST00000420827,;UBA6,non_coding_transcript_exon_variant,,ENST00000429659,;UBA6,non_coding_transcript_exon_variant,,ENST00000506571,;							MODERATE	329/3159	D110G	UBA6_HUMAN			Transcript		benign(0.009)	.	ENSP00000313454		CCDS3516.1			1	
SPAG9	0	LGGM	GRCh37	17	49074017	49074017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	34	11	.	.	ENST00000262013.7:c.1877G>T	p.Arg626Ile	p.R626I	ENST00000262013	NM_001130528.2	626	aGa/aTa	0	1	1	UPI0000D60DF7	0	NA	ENST00000262013		ENSG00000008294	14524		45	2.775		HGNC	p.R616I		SPAG9		SNV							ENST00000505279	protein_coding	getma.org/?cm=var&var=hg19,17,49074017,C,A&fts=all		hmmpanther:PTHR13886		R/I		A	medium	2086/8273		getma.org/?cm=msa&ty=f&p=JIP4_HUMAN&rb=582&re=781&var=R626I	deleterious(0)	H0Y981_HUMAN			YES	SPAG9,missense_variant,p.Arg626Ile,ENST00000262013,NM_001130528.2;SPAG9,missense_variant,p.Arg469Ile,ENST00000510283,NM_001251971.1;SPAG9,missense_variant,p.Arg612Ile,ENST00000357122,NM_003971.5;SPAG9,missense_variant,p.Arg616Ile,ENST00000505279,NM_001130527.2;SPAG9,upstream_gene_variant,,ENST00000513906,;SPAG9,non_coding_transcript_exon_variant,,ENST00000514613,;SPAG9,non_coding_transcript_exon_variant,,ENST00000505173,;SPAG9,non_coding_transcript_exon_variant,,ENST00000513827,;SPAG9,upstream_gene_variant,,ENST00000506483,;SPAG9,downstream_gene_variant,,ENST00000515685,;							MODERATE	1877/3966	R626I	JIP4_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000262013		CCDS45740.1			1	
MTO1	0	LGGM	GRCh37	6	74176308	74176308	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	10	11	.	.	ENST00000415954.2:c.514C>T	p.Arg172Cys	p.R172C	ENST00000415954	NM_001123226.1	172	Cgt/Tgt	0	1		UPI000012F816	0	getma.org/pdb.php?prot=MTO1_HUMAN&from=38&to=461&var=R172C	ENST00000370300		ENSG00000135297	19261		21	1.62		HGNC	p.R98C	rs370046018	MTO1		SNV	T:0.0002		1	9.61E-05			ENST00000442897	protein_coding	getma.org/?cm=var&var=hg19,6,74176308,C,T&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF01134,hmmpanther:PTHR11806,hmmpanther:PTHR11806:SF3,Superfamily_domains:SSF51905		R/C	T:0	T	low	604/2961	3.00E-05	getma.org/?cm=msa&ty=f&p=MTO1_HUMAN&rb=38&re=461&var=R172C	tolerated(0.14)					MTO1,missense_variant,p.Arg172Cys,ENST00000498286,;MTO1,missense_variant,p.Arg172Cys,ENST00000370300,NM_012123.3,NM_133645.2;MTO1,missense_variant,p.Arg172Cys,ENST00000415954,NM_001123226.1;MTO1,missense_variant,p.Arg98Cys,ENST00000370305,;RNU6-975P,downstream_gene_variant,,ENST00000384296,;MTO1,non_coding_transcript_exon_variant,,ENST00000518210,;MTO1,missense_variant,p.Arg172Cys,ENST00000415228,;MTO1,missense_variant,p.Arg98Cys,ENST00000521032,;MTO1,missense_variant,p.Arg98Cys,ENST00000442897,;MTO1,3_prime_UTR_variant,,ENST00000522205,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,non_coding_transcript_exon_variant,,ENST00000462039,;MTO1,non_coding_transcript_exon_variant,,ENST00000485082,;							MODERATE	514/2154	R172C	MTO1_HUMAN			Transcript		benign(0.047)	.	ENSP00000359323	2.47E-05	CCDS4979.1			1	
ASB13	0	LGGM	GRCh37	10	5682766	5682766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	24	11	.	.	ENST00000357700.6:c.737G>T	p.Cys246Phe	p.C246F	ENST00000357700	NM_024701.3	246	tGc/tTc	0	1	1	UPI00001260DE	0	NA	ENST00000357700		ENSG00000196372	19765		35	3.47		HGNC	p.C246F		ASB13		SNV							ENST00000357700	protein_coding	getma.org/?cm=var&var=hg19,10,5682766,C,A&fts=all		Pfam_domain:PF07525,PROSITE_profiles:PS50225,hmmpanther:PTHR24196,SMART_domains:SM00969,Superfamily_domains:SSF158235		C/F		A	medium	764/2699		getma.org/?cm=msa&ty=f&p=ASB13_HUMAN&rb=239&re=278&var=C246F	deleterious(0)				YES	ASB13,missense_variant,p.Cys246Phe,ENST00000357700,NM_024701.3;ASB13,non_coding_transcript_exon_variant,,ENST00000479033,;ASB13,non_coding_transcript_exon_variant,,ENST00000493897,;ASB13,3_prime_UTR_variant,,ENST00000459912,;							MODERATE	737/837	C246F	ASB13_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000350331		CCDS7070.1			1	
TANC1	0	LGGM	GRCh37	2	160006922	160006922	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	26	12	.	.	ENST00000263635.6:c.537A>G	p.Leu179=	p.L179=	ENST00000263635	NM_033394.2	179	ctA/ctG	0	1	1	UPI0000421D80	0		ENST00000263635		ENSG00000115183	29364		38			HGNC	p.L179L		TANC1		SNV							ENST00000263635	protein_coding			hmmpanther:PTHR24166,hmmpanther:PTHR24166:SF23,Low_complexity_(Seg):seg		L		G		774/7470							YES	TANC1,synonymous_variant,p.=,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,intron_variant,,ENST00000454300,;TANC1,non_coding_transcript_exon_variant,,ENST00000465963,;TANC1,non_coding_transcript_exon_variant,,ENST00000464096,;							LOW	537/5586		TANC1_HUMAN			Transcript			.	ENSP00000263635		CCDS42766.1			1	
ERN1	0	LGGM	GRCh37	17	62157060	62157060	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	60	12	.	.	ENST00000433197.3:c.244C>T	p.Leu82=	p.L82=	ENST00000433197	NM_001433.3	82	Ctg/Ttg	0	1	1	UPI0000201263	0		ENST00000433197		ENSG00000178607	3449		72			HGNC	p.L82L		ERN1		SNV							ENST00000433197	protein_coding			hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Gene3D:2.140.10.10,Superfamily_domains:SSF50998		L		A		340/7876							YES	ERN1,synonymous_variant,p.=,ENST00000433197,NM_001433.3;ERN1,non_coding_transcript_exon_variant,,ENST00000577567,;ERN1,non_coding_transcript_exon_variant,,ENST00000584041,;							LOW	244/2934		ERN1_HUMAN			Transcript			.	ENSP00000401445		CCDS45762.1			1	
ZNF483	0	LGGM	GRCh37	9	114305125	114305125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	20	13	.	.	ENST00000309235.5:c.1910G>A	p.Cys637Tyr	p.C637Y	ENST00000309235	NM_133464.2	637	tGt/tAt	0	1	1	UPI00001C1EBF	0	getma.org/pdb.php?prot=ZN483_HUMAN&from=621&to=646&var=C637Y	ENST00000309235		ENSG00000173258	23384		33	3.65		HGNC	p.C637Y		ZNF483		SNV							ENST00000309235	protein_coding	getma.org/?cm=var&var=hg19,9,114305125,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF128,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/Y		A	high	2068/3655		getma.org/?cm=msa&ty=f&p=ZN483_HUMAN&rb=601&re=666&var=C637Y	deleterious(0)				YES	ZNF483,missense_variant,p.Cys637Tyr,ENST00000309235,NM_133464.2;ZNF483,intron_variant,,ENST00000358151,NM_001007169.2;ZNF483,downstream_gene_variant,,ENST00000355824,;							MODERATE	1910/2235	C637Y	ZN483_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000311679		CCDS35106.1			1	
SALL1	0	LGGM	GRCh37	16	51173074	51173074	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	29	13	.	.	ENST00000251020.4:c.3059A>G	p.Tyr1020Cys	p.Y1020C	ENST00000251020	NM_002968.2	1020	tAt/tGt	0	1	1	UPI000013CCD8	0	getma.org/pdb.php?prot=SALL1_HUMAN&from=1015&to=1040&var=Y1020C	ENST00000251020		ENSG00000103449	10524		42	0.725		HGNC	p.Y1020C	COSM3510153	SALL1		SNV			1			1	ENST00000251020	protein_coding	getma.org/?cm=var&var=hg19,16,51173074,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/C		C	neutral	3093/5146		getma.org/?cm=msa&ty=f&p=SALL1_HUMAN&rb=995&re=1060&var=Y1020C	deleterious(0.04)	H3BSM9_HUMAN			YES	SALL1,missense_variant,p.Tyr923Cys,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Tyr1020Cys,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Tyr923Cys,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,intron_variant,,ENST00000541611,;SALL1,downstream_gene_variant,,ENST00000562674,;					1		MODERATE	3059/3975	Y1020C	SALL1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000251020		CCDS10747.1			1	
PAX4	0	LGGM	GRCh37	7	127253579	127253579	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	30	13	.	.	ENST00000341640.2:c.546G>C	p.Gln182His	p.Q182H	ENST00000341640	NM_006193.2	182	caG/caC	0	1	1	UPI000013C824	0	getma.org/pdb.php?prot=PAX4_HUMAN&from=171&to=227&var=Q190H	ENST00000341640		ENSG00000106331	8618		43	0.385		HGNC	p.Q182H		PAX4		SNV			1				ENST00000341640	protein_coding	getma.org/?cm=var&var=hg19,7,127253579,C,G&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF14,SMART_domains:SM00389,Superfamily_domains:SSF46689		Q/H		G	neutral	752/2010		getma.org/?cm=msa&ty=f&p=PAX4_HUMAN&rb=171&re=227&var=Q190H	deleterious(0.02)				YES	PAX4,missense_variant,p.Gln182His,ENST00000341640,NM_006193.2;PAX4,missense_variant,p.Gln190His,ENST00000338516,;PAX4,missense_variant,p.Gln180His,ENST00000463946,;PAX4,missense_variant,p.Gln182His,ENST00000378740,;PAX4,missense_variant,p.Gln180His,ENST00000483494,;PAX4,non_coding_transcript_exon_variant,,ENST00000477423,;							MODERATE	546/1032	Q190H	PAX4_HUMAN			Transcript		benign(0.056)	.	ENSP00000339906		CCDS5797.1			1	
OR51I1	0	LGGM	GRCh37	11	5461843	5461843	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	27	13	.	.	ENST00000380211.1:c.902T>G	p.Ile301Ser	p.I301S	ENST00000380211	NM_001005288.2	301	aTc/aGc	0	1	1	UPI0000041CD0	0	NA	ENST00000380211		ENSG00000167359	15200		40	3.855		HGNC	p.I301S		OR51I1		SNV							ENST00000380211	protein_coding	getma.org/?cm=var&var=hg19,11,5461843,A,C&fts=all		hmmpanther:PTHR26450:SF66,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/S		C	high	902/945		getma.org/?cm=msa&ty=f&p=O51I1_HUMAN&rb=258&re=314&var=I301S	deleterious(0.01)				YES	OR51I1,missense_variant,p.Ile301Ser,ENST00000380211,NM_001005288.2;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,;							MODERATE	902/945	I301S	O51I1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000369559		CCDS31382.1			1	
ABCG2	0	LGGM	GRCh37	4	89018685	89018685	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	36	13	.	.	ENST00000237612.3:c.1567A>G	p.Met523Val	p.M523V	ENST00000237612	NM_004827.2	523	Atg/Gtg	0	1	1	UPI0000001275	0	NA	ENST00000237612		ENSG00000118777	74		49	1.8		HGNC	p.M523V		ABCG2		SNV			1				ENST00000515655	protein_coding	getma.org/?cm=var&var=hg19,4,89018685,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241,Pfam_domain:PF01061		M/V		C	low	2113/4479		getma.org/?cm=msa&ty=f&p=ABCG2_HUMAN&rb=375&re=586&var=M523V	tolerated(0.18)	F8S0F2_HUMAN			YES	ABCG2,missense_variant,p.Met523Val,ENST00000237612,NM_004827.2;ABCG2,missense_variant,p.Met523Val,ENST00000515655,NM_001257386.1;							MODERATE	1567/1968	M523V	ABCG2_HUMAN			Transcript		benign(0.034)	.	ENSP00000237612		CCDS3628.1			1	
PRPH	0	LGGM	GRCh37	12	49691744	49691744	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	22	13	.	.	ENST00000257860.4:c.1271C>T	p.Pro424Leu	p.P424L	ENST00000257860	NM_006262.3	424	cCt/cTt	0	1	1	UPI000013CF92	0	NA	ENST00000257860		ENSG00000135406	9461		35	0.725		HGNC	p.P424L		PRPH		SNV			1				ENST00000257860	protein_coding	getma.org/?cm=var&var=hg19,12,49691744,C,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF29		P/L		T	neutral	2770/3241		getma.org/?cm=msa&ty=f&p=PERI_HUMAN&rb=407&re=470&var=P424L	tolerated(0.72)				YES	PRPH,missense_variant,p.Pro424Leu,ENST00000257860,NM_006262.3;PRPH,missense_variant,p.Pro153Leu,ENST00000532332,;PRPH,downstream_gene_variant,,ENST00000451891,;RP11-161H23.9,intron_variant,,ENST00000553259,;PRPH,downstream_gene_variant,,ENST00000551194,;PRPH,non_coding_transcript_exon_variant,,ENST00000530631,;PRPH,downstream_gene_variant,,ENST00000533401,;PRPH,downstream_gene_variant,,ENST00000537252,;							MODERATE	1271/1413	P424L	PERI_HUMAN			Transcript		benign(0.005)	.	ENSP00000257860		CCDS8783.1			1	
DYRK1A	0	LGGM	GRCh37	21	38878494	38878494	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	25	13	.	.	ENST00000398960.2:c.1639C>T	p.Gln547Ter	p.Q547*	ENST00000398960	NM_001396.3	547	Cag/Tag	0	1	1	UPI0000129A31	0	NA	ENST00000398960		ENSG00000157540	3091		38	0		HGNC	p.Q547X		DYRK1A		SNV			1				ENST00000338785	protein_coding	getma.org/?cm=var&var=hg19,21,38878494,C,T&fts=all		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28		Q/*		T	NA	1714/2422		NA		Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN			YES	DYRK1A,stop_gained,p.Gln538Ter,ENST00000339659,NM_130436.2;DYRK1A,stop_gained,p.Gln547Ter,ENST00000338785,NM_101395.2;DYRK1A,stop_gained,p.Gln547Ter,ENST00000451934,;DYRK1A,stop_gained,p.Gln547Ter,ENST00000398960,NM_001396.3,NM_130438.2;DYRK1A,stop_gained,p.Gln319Ter,ENST00000455387,;DYRK1A,intron_variant,,ENST00000321219,;DYRK1A,intron_variant,,ENST00000398956,;							HIGH	1639/2292	Q547*	DYR1A_HUMAN			Transcript			.	ENSP00000381932		CCDS42925.1			1	
PSKH2	0	LGGM	GRCh37	8	87076249	87076249	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	12	14	.	.	ENST00000276616.2:c.797G>T	p.Ser266Ile	p.S266I	ENST00000276616	NM_033126.1	266	aGc/aTc	0	1	1	UPI000006F951	0	getma.org/pdb.php?prot=KPSH2_HUMAN&from=63&to=320&var=S266I	ENST00000276616		ENSG00000147613	18997		26	2.105		HGNC	p.S266I		PSKH2		SNV							ENST00000276616	protein_coding	getma.org/?cm=var&var=hg19,8,87076249,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF135,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,Superfamily_domains:SSF56112		S/I		A	medium	872/1322		getma.org/?cm=msa&ty=f&p=KPSH2_HUMAN&rb=63&re=320&var=S266I	deleterious(0)				YES	PSKH2,missense_variant,p.Ser266Ile,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,downstream_gene_variant,,ENST00000517981,;PSKH2,downstream_gene_variant,,ENST00000523010,;							MODERATE	797/1158	S266I	KPSH2_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000276616		CCDS6240.1			1	
TMEM222	0	LGGM	GRCh37	1	27661896	27661896	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	28	14	.	.	ENST00000374076.4:c.566T>C	p.Leu189Pro	p.L189P	ENST00000374076	NM_032125.2	189	cTg/cCg	0	1	1	UPI0000DB3EE6	0	NA	ENST00000374076		ENSG00000186501	25363		42	2.645		HGNC	p.L189P		TMEM222		SNV							ENST00000374076	protein_coding	getma.org/?cm=var&var=hg19,1,27661896,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR20921		L/P		C	medium	604/1599		getma.org/?cm=msa&ty=f&p=TM222_HUMAN&rb=179&re=208&var=L189P	deleterious(0)	Q8TDQ4_HUMAN			YES	TMEM222,missense_variant,p.Leu189Pro,ENST00000374076,NM_032125.2;TMEM222,missense_variant,p.Leu156Pro,ENST00000608611,;TMEM222,missense_variant,p.Leu180Pro,ENST00000498220,;TMEM222,downstream_gene_variant,,ENST00000464813,;TMEM222,downstream_gene_variant,,ENST00000466759,;TMEM222,3_prime_UTR_variant,,ENST00000464720,;TMEM222,3_prime_UTR_variant,,ENST00000486082,;TMEM222,3_prime_UTR_variant,,ENST00000478104,;TMEM222,non_coding_transcript_exon_variant,,ENST00000471456,;TMEM222,non_coding_transcript_exon_variant,,ENST00000470223,;							MODERATE	566/627	L189P	TM222_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000363189		CCDS297.2			1	
ZAN	0	LGGM	GRCh37	7	100336218	100336218	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	41	14	.	.	ENST00000546292.1:c.748G>T	p.Asp250Tyr	p.D250Y	ENST00000546292	NM_173059.1	250	Gac/Tac	0	1	1	UPI00004575C6	0	NA	ENST00000546292		ENSG00000146839	12857		55	2.88		HGNC	p.D250Y		ZAN		SNV							ENST00000542585	protein_coding	getma.org/?cm=var&var=hg19,7,100336218,G,T&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF49899,SMART_domains:SM00137,Pfam_domain:PF00629,PROSITE_profiles:PS50060		D/Y		T	medium	896/8375		getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=211&re=368&var=D250Y		F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Asp250Tyr,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Asp250Tyr,ENST00000538115,;ZAN,missense_variant,p.Asp250Tyr,ENST00000546292,NM_173059.1;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Asp250Tyr,ENST00000427578,;ZAN,missense_variant,p.Asp250Tyr,ENST00000449052,;ZAN,missense_variant,p.Asp250Tyr,ENST00000349350,;ZAN,missense_variant,p.Asp250Tyr,ENST00000443370,;ZAN,missense_variant,p.Asp250Tyr,ENST00000421100,;ZAN,missense_variant,p.Asp250Tyr,ENST00000348028,;							MODERATE	748/8163	D250Y				Transcript		probably_damaging(0.999)	.	ENSP00000445943					1	
TMEM246	0	LGGM	GRCh37	9	104238932	104238932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	18	15	.	.	ENST00000374851.1:c.443G>A	p.Arg148His	p.R148H	ENST00000374851		148	cGt/cAt	0	1		UPI000006D08E	0	NA	ENST00000374847		ENSG00000165152	28180		33	1.04		HGNC	p.R148H	rs374762464	TMEM246		SNV	T:0.0002			9.62E-05			ENST00000374851	protein_coding	getma.org/?cm=var&var=hg19,9,104238932,C,T&fts=all		hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1		R/H	T:0	T	low	744/4223	1.50E-05	getma.org/?cm=msa&ty=f&p=TM246_HUMAN&rb=1&re=200&var=R148H	tolerated(0.53)					TMEM246,missense_variant,p.Arg148His,ENST00000374851,;TMEM246,missense_variant,p.Arg148His,ENST00000374848,NM_032342.1;TMEM246,missense_variant,p.Arg148His,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,;							MODERATE	443/1212	R148H	TM246_HUMAN			Transcript		benign(0.202)	.	ENSP00000363980	1.65E-05	CCDS6757.1			1	
ETFA	0	LGGM	GRCh37	15	76508924	76508924	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	29	15	.	.	ENST00000557943.1:c.978G>A	p.Met326Ile	p.M326I	ENST00000557943	NM_000126.3	326	atG/atA	0	1	1	UPI0000001BC8	0	getma.org/pdb.php?prot=ETFA_HUMAN&from=295&to=333&var=M326I	ENST00000557943		ENSG00000140374	3481		44	0.95		HGNC	p.M326I		ETFA		SNV			1				ENST00000557943	protein_coding	getma.org/?cm=var&var=hg19,15,76508924,C,T&fts=all		Gene3D:3.40.50.1220,PIRSF_domain:PIRSF000089,Superfamily_domains:SSF52467		M/I		T	low	1059/2287		getma.org/?cm=msa&ty=f&p=ETFA_HUMAN&rb=295&re=333&var=M326I	deleterious(0.05)	H0YL83_HUMAN			YES	ETFA,missense_variant,p.Met326Ile,ENST00000557943,NM_000126.3;ETFA,missense_variant,p.Met277Ile,ENST00000433983,NM_001127716.1;ETFA,missense_variant,p.Met66Ile,ENST00000560726,;ETFA,missense_variant,p.Met303Ile,ENST00000560595,;ETFA,missense_variant,p.Met222Ile,ENST00000559602,;ETFA,3_prime_UTR_variant,,ENST00000559973,;ETFA,3_prime_UTR_variant,,ENST00000267950,;ETFA,3_prime_UTR_variant,,ENST00000565910,;ETFA,non_coding_transcript_exon_variant,,ENST00000557975,;ETFA,non_coding_transcript_exon_variant,,ENST00000560179,;C15orf27,intron_variant,,ENST00000561302,;							MODERATE	978/1002	M326I	ETFA_HUMAN			Transcript		benign(0.002)	.	ENSP00000452762		CCDS32299.1			1	
CEP104	0	LGGM	GRCh37	1	3746366	3746366	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	36	15	.	.	ENST00000378230.3:c.2032G>T	p.Ala678Ser	p.A678S	ENST00000378230	NM_014704.3	678	Gct/Tct	0	1	1	UPI0000139AA8	0	NA	ENST00000378230		ENSG00000116198	24866		51	1.01		HGNC	p.A678S		CEP104		SNV							ENST00000378230	protein_coding	getma.org/?cm=var&var=hg19,1,3746366,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371		A/S		A	low	2357/6424		getma.org/?cm=msa&ty=f&p=CE104_HUMAN&rb=601&re=800&var=A678S	tolerated(0.22)				YES	CEP104,missense_variant,p.Ala678Ser,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,;							MODERATE	2032/2778	A678S	CE104_HUMAN			Transcript		benign(0.12)	.	ENSP00000367476		CCDS30571.1			1	
MYO6	0	LGGM	GRCh37	6	76576744	76576744	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	17	15	.	.	ENST00000369977.3:c.1866A>G	p.Glu622=	p.E622=	ENST00000369977	NM_004999.3	622	gaA/gaG	0	1	1	UPI00000727CF	0		ENST00000369977		ENSG00000196586	7605		32			HGNC	p.E622E	rs540720345	MYO6		SNV			1				ENST00000369981	protein_coding		G:0	Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF346,SMART_domains:SM00242,Superfamily_domains:SSF52540		E		G		2005/5597				Q14784_HUMAN	G:0	G:0.001	YES	MYO6,synonymous_variant,p.=,ENST00000369981,;MYO6,synonymous_variant,p.=,ENST00000369985,;MYO6,synonymous_variant,p.=,ENST00000369977,NM_004999.3;MYO6,synonymous_variant,p.=,ENST00000369975,;snoU13,downstream_gene_variant,,ENST00000459013,;RNA5SP209,upstream_gene_variant,,ENST00000411237,;MYO6,upstream_gene_variant,,ENST00000462633,;	0.000348	G:0.0002					LOW	1866/3858		MYO6_HUMAN		G:0	Transcript			.	ENSP00000358994	2.47E-05	CCDS34487.1		G:0	1	
DSCAM	0	LGGM	GRCh37	21	41668032	41668032	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	19	15	.	.	ENST00000400454.1:c.2132G>T	p.Cys711Phe	p.C711F	ENST00000400454	NM_001271534.1	711	tGt/tTt	0	1	1	UPI00000422DF	0	getma.org/pdb.php?prot=DSCAM_HUMAN&from=690&to=784&var=C711F	ENST00000400454		ENSG00000171587	3039		34	4.225		HGNC	p.C463F		DSCAM		SNV							ENST00000404019	protein_coding	getma.org/?cm=var&var=hg19,21,41668032,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/F		A	high	2610/8552		getma.org/?cm=msa&ty=f&p=DSCAM_HUMAN&rb=690&re=784&var=C711F	deleterious(0)				YES	DSCAM,missense_variant,p.Cys711Phe,ENST00000400454,NM_001271534.1,NM_001389.3;DSCAM,missense_variant,p.Cys463Phe,ENST00000404019,;							MODERATE	2132/6039	C711F	DSCAM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000383303		CCDS42929.1			1	
ZNF566	0	LGGM	GRCh37	19	36940342	36940342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	36	15	.	.	ENST00000454319.1:c.797G>T	p.Ser266Ile	p.S266I	ENST00000454319	NM_001145343.1	266	aGt/aTt	0	1		UPI000007087E	0	getma.org/pdb.php?prot=ZN566_HUMAN&from=241&to=266&var=S265I	ENST00000424129		ENSG00000186017	25919		51	1.715		HGNC	p.S161I		ZNF566		SNV							ENST00000493391	protein_coding	getma.org/?cm=var&var=hg19,19,36940342,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF57,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/I		A	low	886/2644		getma.org/?cm=msa&ty=f&p=ZN566_HUMAN&rb=221&re=286&var=S265I	tolerated(0.27)	Q8N2S2_HUMAN,C9J6X1_HUMAN,B4DRR6_HUMAN				ZNF566,missense_variant,p.Ser266Ile,ENST00000454319,NM_001145343.1,NM_001145345.1,NM_001145344.1;ZNF566,missense_variant,p.Ser265Ile,ENST00000434377,NM_032838.4;ZNF566,missense_variant,p.Ser161Ile,ENST00000493391,;ZNF566,missense_variant,p.Ser266Ile,ENST00000392170,;ZNF566,missense_variant,p.Ser265Ile,ENST00000424129,;ZNF566,missense_variant,p.Ser39Ile,ENST00000587567,;ZNF566,downstream_gene_variant,,ENST00000452939,;ZNF566,downstream_gene_variant,,ENST00000427002,;							MODERATE	794/1257	S265I	ZN566_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000401259		CCDS12494.1			1	
PAK7	0	LGGM	GRCh37	20	9523312	9523312	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	16	16	.	.	ENST00000353224.5:c.1925C>A	p.Pro642His	p.P642H	ENST00000353224	NM_177990.2	642	cCc/cAc	0	1		UPI0000035BAD	0	getma.org/pdb.php?prot=PAK7_HUMAN&from=450&to=700&var=P642H	ENST00000353224		ENSG00000101349	15916		32	3.925		HGNC	p.P642H		PAK7		SNV							ENST00000353224	protein_coding	getma.org/?cm=var&var=hg19,20,9523312,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Superfamily_domains:SSF56112		P/H		T	high	2192/4500		getma.org/?cm=msa&ty=f&p=PAK7_HUMAN&rb=450&re=700&var=P642H	deleterious(0)	Q9UJQ0_HUMAN				PAK7,missense_variant,p.Pro642His,ENST00000378429,NM_020341.3;PAK7,missense_variant,p.Pro642His,ENST00000378423,;PAK7,missense_variant,p.Pro642His,ENST00000353224,NM_177990.2;							MODERATE	1925/2160	P642H	PAK7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322957		CCDS13107.1			1	
PLEC	0	LGGM	GRCh37	8	145009376	145009376	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	13	16	.	.	ENST00000322810.4:c.1119G>A	p.Leu373=	p.L373=	ENST00000322810	NM_201380.2	373	ctG/ctA	0	1	1	UPI0000233FCD	0		ENST00000322810		ENSG00000178209	9069		29			HGNC	p.L263L	rs781868656	PLEC	6.07E-05	SNV			1				ENST00000527096	protein_coding			Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00033,Superfamily_domains:SSF47576		L		T		1289/15249				Q96IE3_HUMAN,E9PQ28_HUMAN			YES	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.=,ENST00000528025,;PLEC,downstream_gene_variant,,ENST00000527816,;PLEC,downstream_gene_variant,,ENST00000526416,;PLEC,downstream_gene_variant,,ENST00000528131,;PLEC,downstream_gene_variant,,ENST00000532346,;							LOW	1119/14055		PLEC_HUMAN			Transcript			.	ENSP00000323856	8.27E-06	CCDS43772.1			1	
IFI16	0	LGGM	GRCh37	1	159024690	159024690	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	29	16	.	.	ENST00000368131.4:c.2189A>C	p.Ter730SerextTer15	p.*730Sext*15	ENST00000368131	NM_005531.2	730	tAa/tCa	0	1		UPI00001412BE	0		ENST00000295809		ENSG00000163565	5395		45			HGNC	p.X730S		IFI16		SNV							ENST00000359709	protein_coding					*/S		C		2612/2867				H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN				IFI16,stop_lost,p.Ter786SerextTer15,ENST00000295809,;IFI16,stop_lost,p.Ter730SerextTer15,ENST00000368131,NM_005531.2;IFI16,stop_lost,p.Ter730SerextTer15,ENST00000368132,;IFI16,stop_lost,p.Ter734SerextTer15,ENST00000430894,;IFI16,stop_lost,p.Ter730SerextTer15,ENST00000359709,NM_001206567.1;IFI16,stop_lost,p.Ter674SerextTer15,ENST00000340979,;IFI16,stop_lost,p.Ter674SerextTer15,ENST00000448393,;AL359753.1,upstream_gene_variant,,ENST00000582922,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;IFI16,non_coding_transcript_exon_variant,,ENST00000562225,;							HIGH	2357/2358		IF16_HUMAN			Transcript			.	ENSP00000295809					1	
ITSN1	0	LGGM	GRCh37	21	35138190	35138190	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	25	16	.	.	ENST00000381318.3:c.800A>G	p.Asp267Gly	p.D267G	ENST00000381318	NM_003024.2	267	gAc/gGc	0	1	1	UPI00001403C6	0	getma.org/pdb.php?prot=ITSN1_HUMAN&from=216&to=312&var=D267G	ENST00000381318		ENSG00000205726	6183		41	4.175		HGNC	p.D207G		ITSN1		SNV							ENST00000381283	protein_coding	getma.org/?cm=var&var=hg19,21,35138190,A,G&fts=all		PROSITE_profiles:PS50031,PROSITE_profiles:PS50222,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,PROSITE_patterns:PS00018,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00054,SMART_domains:SM00027,Superfamily_domains:SSF47473		D/G		G	high	1088/17015		getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=216&re=312&var=D267G	deleterious(0)	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,missense_variant,p.Asp267Gly,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Asp267Gly,ENST00000381285,;ITSN1,missense_variant,p.Asp267Gly,ENST00000399367,;ITSN1,missense_variant,p.Asp267Gly,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Asp267Gly,ENST00000399352,;ITSN1,missense_variant,p.Asp267Gly,ENST00000399349,;ITSN1,missense_variant,p.Asp267Gly,ENST00000399326,;ITSN1,missense_variant,p.Asp267Gly,ENST00000437442,;ITSN1,missense_variant,p.Asp267Gly,ENST00000399355,;ITSN1,missense_variant,p.Asp230Gly,ENST00000399353,;ITSN1,missense_variant,p.Asp267Gly,ENST00000379960,;ITSN1,missense_variant,p.Asp267Gly,ENST00000399338,;ITSN1,missense_variant,p.Asp207Gly,ENST00000381283,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,non_coding_transcript_exon_variant,,ENST00000488166,;							MODERATE	800/5166	D267G	ITSN1_HUMAN			Transcript		unknown(0)	.	ENSP00000370719		CCDS33545.1			1	
MIB1	0	LGGM	GRCh37	18	19358115	19358115	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	25	17	.	.	ENST00000261537.6:c.688C>T	p.His230Tyr	p.H230Y	ENST00000261537	NM_020774.3	230	Cac/Tac	0	1	1	UPI000000D833	0	NA	ENST00000261537		ENSG00000101752	21086		42	2.71		HGNC	p.H230Y		MIB1		SNV			1				ENST00000261537	protein_coding	getma.org/?cm=var&var=hg19,18,19358115,C,T&fts=all		hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF52		H/Y		T	medium	952/9576		getma.org/?cm=msa&ty=f&p=MIB1_HUMAN&rb=222&re=421&var=H230Y	deleterious(0)	B3KRA8_HUMAN			YES	MIB1,missense_variant,p.His230Tyr,ENST00000261537,NM_020774.3;AC091038.1,downstream_gene_variant,,ENST00000582102,;MIB1,non_coding_transcript_exon_variant,,ENST00000578646,;							MODERATE	688/3021	H230Y	MIB1_HUMAN			Transcript		benign(0.343)	.	ENSP00000261537		CCDS11871.1			1	
KIF23	0	LGGM	GRCh37	15	69728079	69728079	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	25	17	.	.	ENST00000260363.4:c.1241A>G	p.Asn414Ser	p.N414S	ENST00000260363	NM_138555.3	414	aAc/aGc	0	1	1	UPI0000072141	0	getma.org/pdb.php?prot=KIF23_HUMAN&from=31&to=436&var=N414S	ENST00000260363		ENSG00000137807	6392		42	0.21		HGNC	p.N414S		KIF23		SNV			1				ENST00000559279	protein_coding	getma.org/?cm=var&var=hg19,15,69728079,A,G&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF88,SMART_domains:SM00129,Superfamily_domains:SSF52540		N/S		G	neutral	1358/3610		getma.org/?cm=msa&ty=f&p=KIF23_HUMAN&rb=31&re=436&var=N414S	deleterious(0)				YES	KIF23,missense_variant,p.Asn414Ser,ENST00000260363,NM_138555.3,NM_001281301.1;KIF23,missense_variant,p.Asn414Ser,ENST00000559279,NM_004856.6;KIF23,missense_variant,p.Asn414Ser,ENST00000395392,;KIF23,missense_variant,p.Asn414Ser,ENST00000352331,;KIF23,missense_variant,p.Asn231Ser,ENST00000558585,;KIF23,missense_variant,p.Asn231Ser,ENST00000537891,;KIF23,missense_variant,p.Asn217Ser,ENST00000559283,;KIF23,3_prime_UTR_variant,,ENST00000561089,;KIF23,3_prime_UTR_variant,,ENST00000558346,;KIF23,non_coding_transcript_exon_variant,,ENST00000559456,;RP11-253M7.3,upstream_gene_variant,,ENST00000560942,;							MODERATE	1241/2883	N414S	KIF23_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000260363		CCDS32278.1			1	
DNAH17	0	LGGM	GRCh37	17	76480989	76480989	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	14	17	.	.	ENST00000389840.5:c.7568C>A	p.Pro2523Gln	p.P2523Q	ENST00000389840		2523	cCg/cAg	0	1	1	UPI0001A5EE11	0	getma.org/pdb.php?prot=DYH17_HUMAN&from=2402&to=2673&var=P2523Q	ENST00000389840		ENSG00000187775	2946		31	4.505		HGNC	p.P2523Q		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76480989,G,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12775,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		P/Q		T	high	7693/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=2402&re=2673&var=P2523Q					YES	DNAH17,missense_variant,p.Pro2523Gln,ENST00000389840,;DNAH17,missense_variant,p.Pro2532Gln,ENST00000585328,NM_173628.3;RP11-559N14.5,non_coding_transcript_exon_variant,,ENST00000588565,;RP11-559N14.5,upstream_gene_variant,,ENST00000585969,;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;							MODERATE	7568/13458	P2523Q	DYH17_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000374490					1	
JMJD1C	0	LGGM	GRCh37	10	64928203	64928203	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	26	17	.	.	ENST00000399262.2:c.7525A>G	p.Lys2509Glu	p.K2509E	ENST00000399262	NM_032776.1	2509	Aaa/Gaa	0	1	1	UPI0000198BEF	0	NA	ENST00000399262		ENSG00000171988	12313		43	2.63		HGNC	p.K2272E		JMJD1C		SNV			1				ENST00000402544	protein_coding	getma.org/?cm=var&var=hg19,10,64928203,T,C&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6,Superfamily_domains:SSF51197		K/E		C	medium	7744/8666		getma.org/?cm=msa&ty=f&p=JHD2C_HUMAN&rb=2482&re=2540&var=K2509E	deleterious(0)				YES	JMJD1C,missense_variant,p.Lys2509Glu,ENST00000399262,NM_032776.1;JMJD1C,missense_variant,p.Lys2272Glu,ENST00000402544,NM_004241.2;JMJD1C,missense_variant,p.Lys2327Glu,ENST00000542921,NM_001282948.1;JMJD1C,3_prime_UTR_variant,,ENST00000399251,;JMJD1C,non_coding_transcript_exon_variant,,ENST00000467356,;							MODERATE	7525/7623	K2509E	JHD2C_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000382204		CCDS41532.1			1	
PLEKHG4B	0	LGGM	GRCh37	5	169500	169500	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	32	17	.	.	ENST00000283426.6:c.2454G>C	p.Arg818Ser	p.R818S	ENST00000283426	NM_052909.3	818	agG/agC	0	1	1	UPI0000D615EE	0	getma.org/pdb.php?prot=PKH4B_HUMAN&from=809&to=970&var=R818S	ENST00000283426		ENSG00000153404	29399		49	3.475		HGNC	p.R818S		PLEKHG4B		SNV							ENST00000283426	protein_coding	getma.org/?cm=var&var=hg19,5,169500,G,C&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826,Gene3D:1.20.900.10,Pfam_domain:PF00621,SMART_domains:SM00325,Superfamily_domains:SSF48065		R/S		C	medium	2504/11513		getma.org/?cm=msa&ty=f&p=PKH4B_HUMAN&rb=809&re=970&var=R818S	deleterious(0)				YES	PLEKHG4B,missense_variant,p.Arg818Ser,ENST00000283426,NM_052909.3;PLEKHG4B,non_coding_transcript_exon_variant,,ENST00000504041,;							MODERATE	2454/3816	R818S	PKH4B_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000283426		CCDS34124.1			1	
TESK1	0	LGGM	GRCh37	9	35606036	35606036	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	23	18	.	.	ENST00000336395.5:c.275G>A	p.Ser92Asn	p.S92N	ENST00000336395	NM_006285.2	92	aGt/aAt	0	1	1	UPI0000074302	0	getma.org/pdb.php?prot=TESK1_HUMAN&from=57&to=311&var=S92N	ENST00000336395		ENSG00000107140	11731		41	0.27		HGNC	p.S92N		TESK1		SNV							ENST00000336395	protein_coding	getma.org/?cm=var&var=hg19,9,35606036,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257,Gene3D:3.30.200.20,Pfam_domain:PF00069,Superfamily_domains:SSF56112		S/N		A	neutral	525/2421		getma.org/?cm=msa&ty=f&p=TESK1_HUMAN&rb=57&re=311&var=S92N	deleterious(0.01)	Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN			YES	TESK1,missense_variant,p.Ser92Asn,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,;							MODERATE	275/1881	S92N	TESK1_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000338127		CCDS6580.1			1	
SPTBN2	0	LGGM	GRCh37	11	66466930	66466930	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	22	18	.	.	ENST00000533211.1:c.3723A>G	p.Glu1241=	p.E1241=	ENST00000533211		1241	gaA/gaG	0	1		UPI000013EF83	0		ENST00000309996		ENSG00000173898	11276		40			HGNC	p.E1241E		SPTBN2		SNV			1				ENST00000533211	protein_coding			hmmpanther:PTHR11915:SF205,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966		E		C		3795/7866				E9PJZ2_HUMAN,C1KC08_HUMAN				SPTBN2,synonymous_variant,p.=,ENST00000533211,;SPTBN2,synonymous_variant,p.=,ENST00000529997,;SPTBN2,synonymous_variant,p.=,ENST00000309996,NM_006946.2;SPTBN2,upstream_gene_variant,,ENST00000530665,;							LOW	3723/7173		SPTN2_HUMAN			Transcript			.	ENSP00000311489		CCDS8150.1			1	
ABCA1	0	LGGM	GRCh37	9	107562133	107562133	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	32	18	.	.	ENST00000374736.3:c.4910A>C	p.Asn1637Thr	p.N1637T	ENST00000374736	NM_005502.3	1637	aAt/aCt	0	1	1	UPI000013E441	0	NA	ENST00000374736		ENSG00000165029	29		50	3.005		HGNC	p.N1637T		ABCA1		SNV			1				ENST00000374736	protein_coding	getma.org/?cm=var&var=hg19,9,107562133,T,G&fts=all		hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		N/T		G	medium	5305/10494		getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1344&re=1869&var=N1637T	deleterious(0)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Asn1637Thr,ENST00000374736,NM_005502.3;							MODERATE	4910/6786	N1637T	ABCA1_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000363868		CCDS6762.1			1	
ITIH5	0	LGGM	GRCh37	10	7679254	7679254	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	21	19	.	.	ENST00000256861.6:c.589A>C	p.Ile197Leu	p.I197L	ENST00000256861	NM_030569.6	197	Atc/Ctc	0	1	1	UPI00001F8AF3	0		ENST00000256861		ENSG00000123243	21449		40			HGNC	p.I197L		ITIH5		SNV							ENST00000397145	protein_coding			hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338		I/L		G		668/6722			tolerated(0.13)				YES	ITIH5,missense_variant,p.Ile197Leu,ENST00000256861,NM_030569.6;ITIH5,missense_variant,p.Ile197Leu,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Ile197Leu,ENST00000397146,;ITIH5,5_prime_UTR_variant,,ENST00000446830,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;							MODERATE	589/2871		ITIH5_HUMAN			Transcript		benign(0.045)	.	ENSP00000256861					1	
TGM5	0	LGGM	GRCh37	15	43525805	43525805	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	22	19	.	.	ENST00000220420.5:c.1956C>G	p.Asp652Glu	p.D652E	ENST00000220420	NM_201631.3	652	gaC/gaG	0	1	1	UPI0000136CCF	0	getma.org/pdb.php?prot=TGM5_HUMAN&from=620&to=718&var=D652E	ENST00000220420		ENSG00000104055	11781		41	2.585		HGNC	p.D570E		TGM5		SNV			1				ENST00000349114	protein_coding	getma.org/?cm=var&var=hg19,15,43525805,G,C&fts=all		Superfamily_domains:SSF49309,PIRSF_domain:PIRSF000459,Pfam_domain:PF00927,Gene3D:2.60.40.10,hmmpanther:PTHR11590:SF38,hmmpanther:PTHR11590		D/E		C	medium	1964/2767		getma.org/?cm=msa&ty=f&p=TGM5_HUMAN&rb=620&re=718&var=D652E	deleterious(0.02)				YES	TGM5,missense_variant,p.Asp652Glu,ENST00000220420,NM_201631.3;TGM5,missense_variant,p.Asp570Glu,ENST00000349114,NM_004245.3;TGM5,non_coding_transcript_exon_variant,,ENST00000396996,;							MODERATE	1956/2163	D652E	TGM5_HUMAN			Transcript		benign(0.094)	.	ENSP00000220420		CCDS32212.1			1	
LRRC17	0	LGGM	GRCh37	7	102574801	102574801	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	65	19	.	.	ENST00000339431.4:c.441A>G	p.Glu147=	p.E147=	ENST00000339431	NM_001031692.2	147	gaA/gaG	0	1	1	UPI00000719CD	0		ENST00000339431		ENSG00000128606	16895		84			HGNC	p.E147E	rs768188919	LRRC17		SNV							ENST00000339431	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF22,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		E		G		736/1963	1.50E-05			C9JT74_HUMAN			YES	LRRC17,synonymous_variant,p.=,ENST00000249377,NM_005824.2;LRRC17,synonymous_variant,p.=,ENST00000339431,NM_001031692.2;FBXL13,intron_variant,,ENST00000393772,NM_001287150.1;FBXL13,intron_variant,,ENST00000379308,;FBXL13,intron_variant,,ENST00000313221,NM_145032.3;FBXL13,intron_variant,,ENST00000436908,;FBXL13,intron_variant,,ENST00000379305,;FBXL13,intron_variant,,ENST00000455112,NM_001111038.1;FBXL13,intron_variant,,ENST00000379306,;FBXL13,intron_variant,,ENST00000456695,;LRRC17,downstream_gene_variant,,ENST00000455453,;FBXL13,intron_variant,,ENST00000477915,;LRRC17,upstream_gene_variant,,ENST00000485478,;FBXL13,upstream_gene_variant,,ENST00000468216,;LRRC17,downstream_gene_variant,,ENST00000498487,;FBXL13,intron_variant,,ENST00000448002,;							LOW	441/1326		LRC17_HUMAN			Transcript			.	ENSP00000344242	8.24E-06	CCDS34721.1			1	
SUPT6H	0	LGGM	GRCh37	17	27018035	27018035	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	14	20	.	.	ENST00000314616.6:c.3587G>T	p.Trp1196Leu	p.W1196L	ENST00000314616	NM_003170.3	1196	tGg/tTg	0	1	1	UPI000015FFA7	0	NA	ENST00000314616		ENSG00000109111	11470		34	2.985		HGNC	p.W1196L		SUPT6H		SNV							ENST00000314616	protein_coding	getma.org/?cm=var&var=hg19,17,27018035,G,T&fts=all		PIRSF_domain:PIRSF036947,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145		W/L		T	medium	3870/6518		getma.org/?cm=msa&ty=f&p=SPT6H_HUMAN&rb=1068&re=1225&var=W1196L	deleterious(0)	J3QS64_HUMAN			YES	SUPT6H,missense_variant,p.Trp1196Leu,ENST00000314616,NM_003170.3;SUPT6H,missense_variant,p.Trp1196Leu,ENST00000347486,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000583972,;SUPT6H,downstream_gene_variant,,ENST00000581908,;SUPT6H,upstream_gene_variant,,ENST00000580471,;SUPT6H,downstream_gene_variant,,ENST00000585230,;							MODERATE	3587/5181	W1196L	SPT6H_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000319104		CCDS32596.1			1	
IGHV1-58	0	LGGM	GRCh37	14	107078567	107078567	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	42	20	.	.	ENST00000390628.2:c.157A>C	p.Met53Leu	p.M53L	ENST00000390628		53	Atg/Ctg	0	1	1	UPI000011AAC6	0		ENST00000390628		ENSG00000211968	5555		62			HGNC	p.M53L		IGHV1-58		SNV							ENST00000390628	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,SMART_domains:SM00406,Superfamily_domains:SSF48726		M/L		G		218/412							YES	IGHV1-58,missense_variant,p.Met53Leu,ENST00000390628,;IGHV4-59,downstream_gene_variant,,ENST00000455737,;IGHV4-59,downstream_gene_variant,,ENST00000390629,;IGHV3-57,upstream_gene_variant,,ENST00000520143,;							MODERATE	157/351					Transcript		benign(0.004)	.	ENSP00000375037					1	
HMGCS1	0	LGGM	GRCh37	5	43294917	43294917	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	39	21	.	.	ENST00000325110.6:c.952G>A	p.Ala318Thr	p.A318T	ENST00000325110	NM_001098272.2	318	Gca/Aca	0	1	1	UPI000012C9BC	0	getma.org/pdb.php?prot=HMCS1_HUMAN&from=187&to=469&var=A318T	ENST00000325110		ENSG00000112972	5007		60	1.35		HGNC	p.A318T		HMGCS1		SNV							ENST00000433297	protein_coding	getma.org/?cm=var&var=hg19,5,43294917,C,T&fts=all		hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF12,TIGRFAM_domain:TIGR01833,Pfam_domain:PF08540,Superfamily_domains:SSF53901		A/T		T	low	1159/3506		getma.org/?cm=msa&ty=f&p=HMCS1_HUMAN&rb=187&re=469&var=A318T	tolerated(0.49)	Q8N995_HUMAN,D6RIW1_HUMAN			YES	HMGCS1,missense_variant,p.Ala318Thr,ENST00000325110,NM_001098272.2;HMGCS1,missense_variant,p.Ala318Thr,ENST00000433297,NM_002130.7;HMGCS1,downstream_gene_variant,,ENST00000511774,;CTD-2636A23.2,downstream_gene_variant,,ENST00000569313,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000508319,;HMGCS1,non_coding_transcript_exon_variant,,ENST00000514610,;HMGCS1,downstream_gene_variant,,ENST00000507004,;HMGCS1,downstream_gene_variant,,ENST00000507293,;							MODERATE	952/1563	A318T	HMCS1_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000322706		CCDS34154.1			1	
GPR98	0	LGGM	GRCh37	5	89985833	89985833	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	50	21	.	.	ENST00000405460.2:c.6646G>T	p.Gly2216Trp	p.G2216W	ENST00000405460	NM_032119.3	2216	Ggg/Tgg	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		71	2.98		HGNC	p.G2216W		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89985833,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		G/W		T	medium	6742/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=2207&re=2406&var=G2216W					YES	GPR98,missense_variant,p.Gly2216Trp,ENST00000405460,NM_032119.3;GPR98,upstream_gene_variant,,ENST00000509621,;							MODERATE	6646/18921	G2216W	GPR98_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000384582		CCDS47246.1			1	
SLC22A17	0	LGGM	GRCh37	14	23817424	23817424	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	18	21	.	.	ENST00000397267.1:c.784C>T	p.Arg262Ter	p.R262*	ENST00000397267		262	Cga/Tga	0	1		UPI0000126A49	0	NA	ENST00000206544		ENSG00000092096	23095		39	0		HGNC	p.R262X	COSM1369188	SLC22A17		SNV						1	ENST00000397267	protein_coding	getma.org/?cm=var&var=hg19,14,23817424,G,A&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF00083,hmmpanther:PTHR24064:SF216,hmmpanther:PTHR24064,PROSITE_profiles:PS50850		R/*		A	NA	1121/2284		NA						SLC22A17,stop_gained,p.Arg262Ter,ENST00000354772,NM_016609.3;SLC22A17,stop_gained,p.Arg262Ter,ENST00000397267,;SLC22A17,stop_gained,p.Arg262Ter,ENST00000206544,NM_020372.2;SLC22A17,stop_gained,p.Arg151Ter,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000557699,;SLC22A17,downstream_gene_variant,,ENST00000556803,;					1		HIGH	784/1617	R262*	S22AH_HUMAN			Transcript			.	ENSP00000206544		CCDS9593.1			1	
DNAH7	0	LGGM	GRCh37	2	196659215	196659215	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	32	22	.	.	ENST00000312428.6:c.10563G>A	p.Thr3521=	p.T3521=	ENST00000312428	NM_018897.2	3521	acG/acA	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		54			HGNC	p.T3521T	rs774631313,COSM3896265	DNAH7		SNV						0,1	ENST00000312428	protein_coding			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028		T		T		10664/12394	1.50E-05			C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;DNAH7,synonymous_variant,p.=,ENST00000409063,;					0,1		LOW	10563/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273	8.28E-06	CCDS42794.1			1	
SPTB	0	LGGM	GRCh37	14	65246647	65246647	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	32	23	.	.	ENST00000389722.3:c.4269A>G	p.Arg1423=	p.R1423=	ENST00000389722	NM_001024858.2	1423	cgA/cgG	0	1		UPI000053030C	0		ENST00000389721		ENSG00000070182	11274		55			HGNC	p.R88R		SPTB		SNV			1				ENST00000553938	protein_coding			Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,SMART_domains:SM00150,Superfamily_domains:SSF46966		R		C		4302/6705				Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,O14726_HUMAN,O14725_HUMAN				SPTB,splice_region_variant,p.=,ENST00000389722,NM_001024858.2;SPTB,splice_region_variant,p.=,ENST00000556626,;SPTB,splice_region_variant,p.=,ENST00000542895,;SPTB,splice_region_variant,p.=,ENST00000389721,NM_000347.5;SPTB,splice_region_variant,p.=,ENST00000389720,;SPTB,splice_region_variant,p.=,ENST00000553938,;							LOW	4269/6414		SPTB1_HUMAN			Transcript			.	ENSP00000374371		CCDS32100.1			1	
SNRPB	0	LGGM	GRCh37	20	2444469	2444469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	27	23	.	.	ENST00000438552.2:c.344C>T	p.Pro115Leu	p.P115L	ENST00000438552	NM_198216.1	115	cCa/cTa	0	1	1	UPI00001351FF	0	NA	ENST00000438552		ENSG00000125835	11153		50	2.75		HGNC	p.P36L		SNRPB		SNV			1				ENST00000339610	protein_coding	getma.org/?cm=var&var=hg19,20,2444469,G,A&fts=all		PIRSF_domain:PIRSF037187,hmmpanther:PTHR10701,hmmpanther:PTHR10701:SF2,Low_complexity_(Seg):seg,Superfamily_domains:SSF50182		P/L		A	medium	507/1008		getma.org/?cm=msa&ty=f&p=RSMB_HUMAN&rb=83&re=240&var=P115L	deleterious(0)				YES	SNRPB,missense_variant,p.Pro36Leu,ENST00000339610,;SNRPB,missense_variant,p.Pro115Leu,ENST00000381342,NM_003091.3;SNRPB,missense_variant,p.Pro115Leu,ENST00000438552,NM_198216.1;SNORD119,upstream_gene_variant,,ENST00000515997,;SNRPB,3_prime_UTR_variant,,ENST00000474384,;RP4-734P14.4,downstream_gene_variant,,ENST00000461548,;							MODERATE	344/723	P115L	RSMB_HUMAN			Transcript		benign(0.346)	.	ENSP00000412566		CCDS13026.1			1	
OR8B2	0	LGGM	GRCh37	11	124252542	124252542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	35	23	.	.	ENST00000375013.2:c.698G>T	p.Gly233Val	p.G233V	ENST00000375013	NM_001005468.1	233	gGa/gTa	0	1	1	UPI000004B1E5	0	NA	ENST00000375013		ENSG00000204293	8471		58	3.715		HGNC	p.G233V		OR8B2		SNV							ENST00000375013	protein_coding	getma.org/?cm=var&var=hg19,11,124252542,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF216,Superfamily_domains:SSF81321		G/V		A	high	717/968		getma.org/?cm=msa&ty=f&p=OR8B2_HUMAN&rb=139&re=282&var=G233V	deleterious_low_confidence(0)				YES	OR8B2,missense_variant,p.Gly233Val,ENST00000375013,NM_001005468.1;OR8C1P,upstream_gene_variant,,ENST00000427511,;							MODERATE	698/942	G233V	OR8B2_HUMAN			Transcript		possibly_damaging(0.71)	.	ENSP00000364152		CCDS31708.1			1	
TP53BP2	0	LGGM	GRCh37	1	223971910	223971910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	120	25	.	.	ENST00000343537.7:c.3270G>T	p.Met1090Ile	p.M1090I	ENST00000343537	NM_001031685.2	1090	atG/atT	0	1	1	UPI0000D4B5F2	0	getma.org/pdb.php?prot=ASPP2_HUMAN&from=1063&to=1111&var=M1084I	ENST00000343537		ENSG00000143514	12000		145	-1.51		HGNC	p.M961I		TP53BP2		SNV							ENST00000391878	protein_coding	getma.org/?cm=var&var=hg19,1,223971910,C,A&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF00018,Prints_domain:PR01887,PROSITE_profiles:PS50002,hmmpanther:PTHR24131,hmmpanther:PTHR24131:SF8,SMART_domains:SM00326,Superfamily_domains:SSF50044		M/I		A	neutral	3562/4651		getma.org/?cm=msa&ty=f&p=ASPP2_HUMAN&rb=1063&re=1111&var=M1084I	tolerated(0.71)	B7Z2E9_HUMAN,B4DI25_HUMAN,B4DH76_HUMAN			YES	TP53BP2,missense_variant,p.Met961Ile,ENST00000391878,NM_005426.2;TP53BP2,missense_variant,p.Met1090Ile,ENST00000343537,NM_001031685.2;TP53BP2,missense_variant,p.Met323Ile,ENST00000391879,;TP53BP2,non_coding_transcript_exon_variant,,ENST00000498843,;TP53BP2,3_prime_UTR_variant,,ENST00000483398,;							MODERATE	3270/3405	M1084I	ASPP2_HUMAN			Transcript		benign(0.312)	.	ENSP00000341957		CCDS44319.1			1	
UGGT2	0	LGGM	GRCh37	13	96529608	96529608	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	31	27	.	.	ENST00000376747.3:c.3398A>G	p.Gln1133Arg	p.Q1133R	ENST00000376747	NM_020121.3	1133	cAa/cGa	0	1	1	UPI00001FC9AA	0	NA	ENST00000376747		ENSG00000102595	15664		58	3.17		HGNC	p.Q1133R		UGGT2		SNV							ENST00000376747	protein_coding	getma.org/?cm=var&var=hg19,13,96529608,T,C&fts=all		hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1		Q/R		C	medium	3469/4832		getma.org/?cm=msa&ty=f&p=UGGG2_HUMAN&rb=1129&re=1233&var=Q1133R	deleterious(0)				YES	UGGT2,missense_variant,p.Gln1133Arg,ENST00000376747,NM_020121.3;UGGT2,non_coding_transcript_exon_variant,,ENST00000491509,;UGGT2,upstream_gene_variant,,ENST00000476866,;UGGT2,non_coding_transcript_exon_variant,,ENST00000463054,;							MODERATE	3398/4551	Q1133R	UGGG2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000365938		CCDS9480.1			1	
TTC8	0	LGGM	GRCh37	14	89307828	89307828	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	36	28	.	.	ENST00000380656.2:c.549A>G	p.Thr183=	p.T183=	ENST00000380656	NM_144596.2	183	acA/acG	0	1	1	UPI0000447156	0		ENST00000380656		ENSG00000165533	20087		64			HGNC	p.T173T		TTC8		SNV			1				ENST00000345383	protein_coding			hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF39		T		G		595/2171				B3KSL8_HUMAN			YES	TTC8,synonymous_variant,p.=,ENST00000338104,NM_001288781.1;TTC8,synonymous_variant,p.=,ENST00000345383,NM_198309.2;TTC8,synonymous_variant,p.=,ENST00000380656,NM_144596.2;TTC8,synonymous_variant,p.=,ENST00000556651,;TTC8,intron_variant,,ENST00000536576,NM_001288783.1;TTC8,intron_variant,,ENST00000346301,NM_198310.2;TTC8,intron_variant,,ENST00000554686,;TTC8,intron_variant,,ENST00000354441,;TTC8,upstream_gene_variant,,ENST00000358622,;TTC8,upstream_gene_variant,,ENST00000557580,;Y_RNA,downstream_gene_variant,,ENST00000384612,;TTC8,synonymous_variant,p.=,ENST00000555057,NM_001288782.1;TTC8,3_prime_UTR_variant,,ENST00000556077,;TTC8,non_coding_transcript_exon_variant,,ENST00000556567,;TTC8,non_coding_transcript_exon_variant,,ENST00000556133,;							LOW	549/1548		TTC8_HUMAN			Transcript			.	ENSP00000370031		CCDS32137.1			1	
NAV2	0	LGGM	GRCh37	11	20113830	20113830	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	32	28	.	.	ENST00000396087.3:c.5908T>G	p.Ser1970Ala	p.S1970A	ENST00000396087	NM_001244963.1	1970	Tcc/Gcc	0	1	1	UPI00001E0580	0	NA	ENST00000396087		ENSG00000166833	15997		60	1.935		HGNC	p.S975A		NAV2		SNV							ENST00000311043	protein_coding	getma.org/?cm=var&var=hg19,11,20113830,T,G&fts=all		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		S/A		G	medium	6007/7882		getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=731&re=2028&var=S1970A	tolerated(0.11)				YES	NAV2,missense_variant,p.Ser1914Ala,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Ser1911Ala,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Ser1847Ala,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Ser1901Ala,ENST00000540292,;NAV2,missense_variant,p.Ser1899Ala,ENST00000527559,;NAV2,missense_variant,p.Ser1970Ala,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Ser975Ala,ENST00000311043,;NAV2,missense_variant,p.Ser975Ala,ENST00000533917,NM_001111019.2;							MODERATE	5908/7467	S1970A	NAV2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000379396		CCDS58126.1			1	
ZNF623	0	LGGM	GRCh37	8	144733474	144733474	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	44	28	.	.	ENST00000501748.2:c.1432C>T	p.Gln478Ter	p.Q478*	ENST00000501748	NM_014789.3	478	Cag/Tag	0	1	1	UPI00001AF7CB	0	NA	ENST00000501748		ENSG00000183309	29084		72	0		HGNC	p.Q478X		ZNF623		SNV							ENST00000532796	protein_coding	getma.org/?cm=var&var=hg19,8,144733474,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF244,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/*		T	NA	1521/3947		NA					YES	ZNF623,stop_gained,p.Gln478Ter,ENST00000501748,NM_014789.3;ZNF623,stop_gained,p.Gln438Ter,ENST00000458270,NM_001082480.2;ZNF623,stop_gained,p.Gln438Ter,ENST00000526926,NM_001261843.1;							HIGH	1432/1611	Q478*	ZN623_HUMAN			Transcript			.	ENSP00000445979		CCDS34957.1			1	
PHF10	0	LGGM	GRCh37	6	170114841	170114842	+	frameshift_variant	Frame_Shift_Del	DEL	TC	TC	-	novel	by Submitter	H090798	H090798N.bam	TC	TC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	9	29	.	.	ENST00000339209.4:c.790_791del	p.Glu264IlefsTer3	p.E264Ifs*3	ENST00000339209	NM_133325.2	264	GAa/a	0	1	1	UPI0000EE1F6E	0		ENST00000339209		ENSG00000130024	18250		38			HGNC	p.262_262del		PHF10		deletion							ENST00000366780	protein_coding			hmmpanther:PTHR10615		E/X		-		914-915/1719				S5FMB0_HUMAN			YES	PHF10,frameshift_variant,p.Glu264IlefsTer3,ENST00000339209,NM_133325.2,NM_018288.3;PHF10,frameshift_variant,p.Glu262IlefsTer3,ENST00000366780,;PHF10,downstream_gene_variant,,ENST00000464779,;PHF10,intron_variant,,ENST00000480008,;							HIGH	790-791/1497		PHF10_HUMAN			Transcript			.	ENSP00000341805		CCDS5308.2			1	
ECHDC1	0	LGGM	GRCh37	6	127611114	127611114	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	14	30	.	.	ENST00000531967.1:c.824T>C	p.Leu275Ser	p.L275S	ENST00000531967	NM_001139510.1	275	tTg/tCg	0	1	1	UPI000013C66A	0	getma.org/pdb.php?prot=ECHD1_HUMAN&from=57&to=301&var=L275S	ENST00000531967		ENSG00000093144	21489		44	2.445		HGNC	p.L269S		ECHDC1		SNV							ENST00000454859	protein_coding	getma.org/?cm=var&var=hg19,6,127611114,A,G&fts=all		Gene3D:3.90.226.10,Pfam_domain:PF00378,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF27,Superfamily_domains:SSF52096		L/S		G	medium	1328/2585		getma.org/?cm=msa&ty=f&p=ECHD1_HUMAN&rb=57&re=301&var=L275S	tolerated(0.1)	F2Z2D6_HUMAN,E9PRU6_HUMAN,E9PJS8_HUMAN			YES	ECHDC1,missense_variant,p.Leu275Ser,ENST00000531967,NM_001139510.1;ECHDC1,missense_variant,p.Leu269Ser,ENST00000474289,;ECHDC1,missense_variant,p.Leu269Ser,ENST00000454859,NM_001002030.1;ECHDC1,missense_variant,p.Leu194Ser,ENST00000454591,NM_001105544.1;ECHDC1,missense_variant,p.Leu252Ser,ENST00000309620,;ECHDC1,missense_variant,p.Leu269Ser,ENST00000430841,;ECHDC1,3_prime_UTR_variant,,ENST00000528402,NM_001105545.1;ECHDC1,3_prime_UTR_variant,,ENST00000368291,NM_018479.3;ECHDC1,3_prime_UTR_variant,,ENST00000368289,;RNF146,downstream_gene_variant,,ENST00000368314,NM_001242850.1,NM_001242851.1;RNF146,downstream_gene_variant,,ENST00000356799,NM_001242852.1;RNF146,downstream_gene_variant,,ENST00000608991,NM_001242846.1;RNF146,downstream_gene_variant,,ENST00000309649,NM_001242845.1,NM_030963.3,NM_001242844.1;RNF146,downstream_gene_variant,,ENST00000610153,NM_001242849.1;RNF146,downstream_gene_variant,,ENST00000476956,;RNF146,downstream_gene_variant,,ENST00000480444,;ECHDC1,downstream_gene_variant,,ENST00000436638,;RNF146,downstream_gene_variant,,ENST00000477776,;RNF146,downstream_gene_variant,,ENST00000609447,;RNF146,downstream_gene_variant,,ENST00000610162,;RNF146,downstream_gene_variant,,ENST00000609944,;ECHDC1,downstream_gene_variant,,ENST00000460558,;RNF146,downstream_gene_variant,,ENST00000489534,;RNF146,downstream_gene_variant,,ENST00000608340,;ECHDC1,downstream_gene_variant,,ENST00000488087,;ECHDC1,3_prime_UTR_variant,,ENST00000368295,;ECHDC1,3_prime_UTR_variant,,ENST00000479525,;ECHDC1,3_prime_UTR_variant,,ENST00000417628,;ECHDC1,non_coding_transcript_exon_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000368292,;							MODERATE	824/924	L275S	ECHD1_HUMAN			Transcript		benign(0.206)	.	ENSP00000436585		CCDS47471.1			1	
CD200	0	LGGM	GRCh37	3	112066634	112066634	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	16	31	.	.	ENST00000473539.1:c.726G>T	p.Leu242=	p.L242=	ENST00000473539	NM_001004196.2	242	ctG/ctT	0	1	1	UPI00004DF0E4	0		ENST00000473539		ENSG00000091972	7203		47			HGNC	p.L143L		CD200		SNV							ENST00000383681	protein_coding			Gene3D:2.60.40.10,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF49,Superfamily_domains:SSF48726		L		T		783/1524				U3KQQ2_HUMAN,F8W7G1_HUMAN			YES	CD200,synonymous_variant,p.=,ENST00000315711,NM_005944.5;CD200,synonymous_variant,p.=,ENST00000383681,;CD200,synonymous_variant,p.=,ENST00000473539,NM_001004196.2;CD200,synonymous_variant,p.=,ENST00000606471,;CD200,downstream_gene_variant,,ENST00000607597,;CD200,3_prime_UTR_variant,,ENST00000478595,;CD200,3_prime_UTR_variant,,ENST00000498096,;							LOW	726/885		OX2G_HUMAN			Transcript			.	ENSP00000420298		CCDS33818.1			1	
WDR65	0	LGGM	GRCh37	1	43680997	43680997	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	61	32	.	.				ENST00000528956	NM_152498.3			0	1		UPI0001D89705	0		ENST00000372492		ENSG00000243710	26485		93			HGNC	p.V667V		WDR65		SNV			1				ENST00000372492	protein_coding			Superfamily_domains:SSF50998,Gene3D:2.130.10.10,hmmpanther:PTHR32215:SF0,hmmpanther:PTHR32215,PROSITE_profiles:PS50082		V		T		2325/4244				E9PRV3_HUMAN				WDR65,synonymous_variant,p.=,ENST00000372492,NM_001195831.2;WDR65,downstream_gene_variant,,ENST00000528956,NM_152498.3,NM_001167965.1;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000461557,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000474566,;EBNA1BP2,non_coding_transcript_exon_variant,,ENST00000466927,;WDR65,upstream_gene_variant,,ENST00000428122,;							LOW	2001/3753		WDR65_HUMAN			Transcript			.	ENSP00000361570					1	
C6	0	LGGM	GRCh37	5	41203313	41203313	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	53	32	.	.	ENST00000263413.3:c.20T>G	p.Leu7Trp	p.L7W	ENST00000263413	NM_001115131.2	7	tTg/tGg	0	1	1	UPI000013D401	0	NA	ENST00000263413		ENSG00000039537	1339		85	2.175		HGNC	p.L7W		C6		SNV			1				ENST00000263413	protein_coding	getma.org/?cm=var&var=hg19,5,41203313,A,C&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF23		L/W		C	medium	285/3661		getma.org/?cm=msa&ty=f&p=CO6_HUMAN&rb=1&re=56&var=L7W	deleterious(0)	C9JX36_HUMAN,C9JC72_HUMAN			YES	C6,missense_variant,p.Leu7Trp,ENST00000263413,NM_001115131.2;C6,missense_variant,p.Leu7Trp,ENST00000337836,NM_000065.3;C6,missense_variant,p.Leu7Trp,ENST00000417809,;C6,missense_variant,p.Leu7Trp,ENST00000433294,;							MODERATE	20/2805	L7W	CO6_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000263413		CCDS3936.1			1	
ZNF106	0	LGGM	GRCh37	15	42743315	42743315	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	57	34	.	.	ENST00000263805.4:c.1086G>T	p.Ser362=	p.S362=	ENST00000263805	NM_022473.1	362	tcG/tcT	0	1	1	UPI000006D6CC	0		ENST00000263805		ENSG00000103994	12886		91			HGNC	p.S385S		ZNF106		SNV							ENST00000564754	protein_coding			hmmpanther:PTHR14435		S		A		1413/10460				H3BNX5_HUMAN			YES	ZNF106,synonymous_variant,p.=,ENST00000263805,NM_022473.1;ZNF106,synonymous_variant,p.=,ENST00000565948,;ZNF106,synonymous_variant,p.=,ENST00000564754,;ZNF106,intron_variant,,ENST00000565380,NM_001284307.1;ZNF106,intron_variant,,ENST00000565611,NM_001284306.1;ZNF106,upstream_gene_variant,,ENST00000565500,;ZNF106,upstream_gene_variant,,ENST00000567772,;ZNF106,downstream_gene_variant,,ENST00000567041,;							LOW	1086/5652		ZN106_HUMAN			Transcript			.	ENSP00000263805		CCDS32208.1			1	
OR2B11	0	LGGM	GRCh37	1	247614945	247614945	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	14	36	.	.	ENST00000318749.6:c.340A>G	p.Thr114Ala	p.T114A	ENST00000318749	NM_001004492.1	114	Acg/Gcg	0	1	1	UPI0000418F50	0	getma.org/pdb.php?prot=OR2BB_HUMAN&from=1&to=142&var=T114A	ENST00000318749		ENSG00000177535	31249		50	1.485		HGNC	p.T114A		OR2B11		SNV							ENST00000318749	protein_coding	getma.org/?cm=var&var=hg19,1,247614945,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF112,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/A		C	low	364/1054		getma.org/?cm=msa&ty=f&p=OR2BB_HUMAN&rb=1&re=142&var=T114A	deleterious(0.04)				YES	OR2B11,missense_variant,p.Thr114Ala,ENST00000318749,NM_001004492.1;NLRP3,downstream_gene_variant,,ENST00000366497,NM_001127461.2;NLRP3,downstream_gene_variant,,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,downstream_gene_variant,,ENST00000366496,;NLRP3,downstream_gene_variant,,ENST00000391828,NM_001079821.2;NLRP3,downstream_gene_variant,,ENST00000348069,NM_183395.2;NLRP3,downstream_gene_variant,,ENST00000391827,;NLRP3,downstream_gene_variant,,ENST00000532083,;							MODERATE	340/954	T114A	OR2BB_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000325682		CCDS31090.1			1	
NYAP2	0	LGGM	GRCh37	2	226378361	226378361	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	37	37	.	.	ENST00000272907.6:c.496A>T	p.Ser166Cys	p.S166C	ENST00000272907	NM_020864.1	166	Agc/Tgc	0	1	1	UPI00001C1DB6	0	NA	ENST00000272907		ENSG00000144460	29291		74	1.59		HGNC	p.S166C	rs760339066	NYAP2		SNV							ENST00000272907	protein_coding	getma.org/?cm=var&var=hg19,2,226378361,A,T&fts=all		Pfam_domain:PF15439,hmmpanther:PTHR22633,Low_complexity_(Seg):seg		S/C		T	low	909/4828		getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=1&re=200&var=S166C	tolerated(0.16)				YES	NYAP2,missense_variant,p.Ser166Cys,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;	0.000119						MODERATE	496/1962	S166C	NYAP2_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000272907	8.34E-06	CCDS46529.1			1	
USP36	0	LGGM	GRCh37	17	76816028	76816028	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	194	39	.	.	ENST00000542802.3:c.895G>T	p.Ala299Ser	p.A299S	ENST00000542802		299	Gcc/Tcc	0	1	1	UPI00000398BB	0	getma.org/pdb.php?prot=UBP36_HUMAN&from=120&to=420&var=A299S	ENST00000542802		ENSG00000055483	20062		233	1.48		HGNC	p.A299S		USP36		SNV							ENST00000589225	protein_coding	getma.org/?cm=var&var=hg19,17,76816028,C,A&fts=all		Gene3D:1nbfA02,Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF409,Superfamily_domains:SSF54001		A/S		A	low	1339/6063		getma.org/?cm=msa&ty=f&p=UBP36_HUMAN&rb=120&re=420&var=A299S	tolerated(0.09)	K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN			YES	USP36,missense_variant,p.Ala299Ser,ENST00000542802,;USP36,missense_variant,p.Ala299Ser,ENST00000312010,NM_025090.3;USP36,missense_variant,p.Ala89Ser,ENST00000586066,;USP36,5_prime_UTR_variant,,ENST00000449938,;USP36,downstream_gene_variant,,ENST00000589424,;USP36,upstream_gene_variant,,ENST00000588467,;USP36,missense_variant,p.Ala299Ser,ENST00000589225,;USP36,missense_variant,p.Ala299Ser,ENST00000588086,;USP36,non_coding_transcript_exon_variant,,ENST00000589254,;USP36,upstream_gene_variant,,ENST00000590312,;							MODERATE	895/3372	A299S	UBP36_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000441214		CCDS32755.1			1	
RP1	0	LGGM	GRCh37	8	55541023	55541023	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	35	39	.	.	ENST00000220676.1:c.4581A>T	p.Ile1527=	p.I1527=	ENST00000220676	NM_006269.1	1527	atA/atT	0	1	1	UPI000013455B	0		ENST00000220676		ENSG00000104237	10263		74			HGNC	p.I1527I		RP1		SNV			1				ENST00000220676	protein_coding			hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		I		T		4729/7100				A0FDN2_HUMAN			YES	RP1,synonymous_variant,p.=,ENST00000220676,NM_006269.1;							LOW	4581/6471		RP1_HUMAN			Transcript			.	ENSP00000220676		CCDS6160.1			1	
CTTNBP2	0	LGGM	GRCh37	7	117400531	117400531	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	59	41	.	.	ENST00000160373.3:c.3130A>G	p.Asn1044Asp	p.N1044D	ENST00000160373	NM_033427.2	1044	Aac/Gac	0	1	1	UPI000006E94A	0	NA	ENST00000160373		ENSG00000077063	15679		100	1.7		HGNC	p.N1044D		CTTNBP2		SNV							ENST00000160373	protein_coding	getma.org/?cm=var&var=hg19,7,117400531,T,C&fts=all		hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166		N/D		C	low	3222/5970		getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=988&re=1386&var=N1044D	tolerated(0.6)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,missense_variant,p.Asn1044Asp,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.Asn532Asp,ENST00000446636,;CTTNBP2,missense_variant,p.Asn58Asp,ENST00000435233,;CTTNBP2,missense_variant,p.Asn40Asp,ENST00000416239,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,non_coding_transcript_exon_variant,,ENST00000467088,;CTTNBP2,upstream_gene_variant,,ENST00000482124,;							MODERATE	3130/4992	N1044D	CTTB2_HUMAN			Transcript		benign(0.001)	.	ENSP00000160373		CCDS5774.1			1	
CXorf22	0	LGGM	GRCh37	X	35959448	35959448	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	8	42	.	.	ENST00000297866.5:c.450C>T	p.Gly150=	p.G150=	ENST00000297866	NM_152632.3	150	ggC/ggT	0	1	1	UPI000022DD27	0		ENST00000297866		ENSG00000165164	28546		50			HGNC	p.G150G		CXorf22		SNV							ENST00000297866	protein_coding			hmmpanther:PTHR23053		G		T		516/3608							YES	CXorf22,synonymous_variant,p.=,ENST00000297866,NM_152632.3;CXorf22,synonymous_variant,p.=,ENST00000493930,;							LOW	450/2931		CX022_HUMAN			Transcript			.	ENSP00000297866		CCDS14237.2			1	
CNTD1	0	LGGM	GRCh37	17	40957763	40957763	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	20	42	.	.	ENST00000588408.1:c.441G>T	p.Leu147Phe	p.L147F	ENST00000588408	NM_173478.2	147	ttG/ttT	0	1	1	UPI000006EFD8	0	NA	ENST00000588408		ENSG00000176563	26847		62	1.935		HGNC	p.L95F		CNTD1		SNV							ENST00000585355	protein_coding	getma.org/?cm=var&var=hg19,17,40957763,G,T&fts=all		hmmpanther:PTHR21615,Pfam_domain:PF00134,Gene3D:1.10.472.10,Superfamily_domains:SSF47954		L/F		T	medium	717/2369		getma.org/?cm=msa&ty=f&p=CNTD1_HUMAN&rb=109&re=178&var=L147F	deleterious(0.01)	B4DXR6_HUMAN			YES	CNTD1,missense_variant,p.Leu147Phe,ENST00000588408,NM_173478.2;CNTD1,missense_variant,p.Leu64Phe,ENST00000588527,;CNTD1,missense_variant,p.Leu95Phe,ENST00000585355,;BECN1,downstream_gene_variant,,ENST00000361523,NM_003766.3;BECN1,downstream_gene_variant,,ENST00000590099,;BECN1,downstream_gene_variant,,ENST00000438274,;BECN1,downstream_gene_variant,,ENST00000590764,;BECN1,downstream_gene_variant,,ENST00000588276,;CNTD1,upstream_gene_variant,,ENST00000586652,;BECN1,downstream_gene_variant,,ENST00000589663,;CNTD1,non_coding_transcript_exon_variant,,ENST00000315066,;CNTD1,downstream_gene_variant,,ENST00000591559,;CNTD1,3_prime_UTR_variant,,ENST00000592166,;BECN1,downstream_gene_variant,,ENST00000543382,;BECN1,downstream_gene_variant,,ENST00000587880,;							MODERATE	441/993	L147F	CNTD1_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000465204		CCDS11440.1			1	
ANKRD36	0	LGGM	GRCh37	2	97788669	97788669	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	53	43	.	.	ENST00000420699.2:c.532A>C	p.Lys178Gln	p.K178Q	ENST00000420699	NM_001164315.1	178	Aaa/Caa	0	1	1	UPI0001B23BB4	0	getma.org/pdb.php?prot=AN36A_HUMAN&from=135&to=227&var=K178Q	ENST00000420699		ENSG00000135976	24079		96	-0.28		HGNC	p.K178Q		ANKRD36		SNV							ENST00000461153	protein_coding	getma.org/?cm=var&var=hg19,2,97788669,A,C&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		K/Q		C	neutral	776/6269		getma.org/?cm=msa&ty=f&p=AN36A_HUMAN&rb=135&re=227&var=K178Q	tolerated(0.89)				YES	ANKRD36,missense_variant,p.Lys178Gln,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Lys178Gln,ENST00000461153,;ANKRD36,downstream_gene_variant,,ENST00000452478,;							MODERATE	532/5826	K178Q	AN36A_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000391950		CCDS54379.1			1	
MPP6	0	LGGM	GRCh37	7	24727156	24727156	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	99	47	.	.	ENST00000222644.5:c.1546G>A	p.Ala516Thr	p.A516T	ENST00000222644		516	Gcc/Acc	0	1	1	UPI0000001C1B	0	getma.org/pdb.php?prot=MPP6_HUMAN&from=337&to=527&var=A516T	ENST00000222644		ENSG00000105926	18167		146	1.15		HGNC	p.A516T		MPP6		SNV							ENST00000222644	protein_coding	getma.org/?cm=var&var=hg19,7,24727156,G,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23122:SF36,hmmpanther:PTHR23122,PROSITE_profiles:PS50052,Coiled-coils_(Ncoils):Coil		A/T		A	low	1796/8452		getma.org/?cm=msa&ty=f&p=MPP6_HUMAN&rb=337&re=527&var=A516T	tolerated(1)	C9JGI8_HUMAN,C9J4Q3_HUMAN,B8ZZG1_HUMAN			YES	MPP6,missense_variant,p.Ala516Thr,ENST00000222644,;MPP6,missense_variant,p.Ala516Thr,ENST00000396475,NM_016447.2;MPP6,missense_variant,p.Ala404Thr,ENST00000409761,;MPP6,3_prime_UTR_variant,,ENST00000464384,;							MODERATE	1546/1623	A516T	MPP6_HUMAN			Transcript		benign(0.047)	.	ENSP00000222644		CCDS5388.1			1	
VPS36	0	LGGM	GRCh37	13	52990035	52990035	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	85	52	.	.	ENST00000378060.4:c.1091G>A	p.Gly364Asp	p.G364D	ENST00000378060	NM_016075.2	364	gGc/gAc	0	1	1	UPI000013CFE6	0	getma.org/pdb.php?prot=VPS36_HUMAN&from=154&to=369&var=G364D	ENST00000378060		ENSG00000136100	20312		137	3.285		HGNC	p.G364D		VPS36		SNV							ENST00000378060	protein_coding	getma.org/?cm=var&var=hg19,13,52990035,C,T&fts=all		hmmpanther:PTHR13128:SF12,hmmpanther:PTHR13128,Gene3D:1.10.10.10,Pfam_domain:PF04157,Superfamily_domains:SSF46785		G/D		T	medium	1119/4417		getma.org/?cm=msa&ty=f&p=VPS36_HUMAN&rb=154&re=369&var=G364D	deleterious(0)				YES	VPS36,missense_variant,p.Gly364Asp,ENST00000378060,NM_016075.2,NM_001282169.1,NM_001282168.1;VPS36,non_coding_transcript_exon_variant,,ENST00000462289,;VPS36,intron_variant,,ENST00000497149,;							MODERATE	1091/1161	G364D	VPS36_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367299		CCDS9434.1			1	
HERC1	0	LGGM	GRCh37	15	63956670	63956670	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H090798	H090798N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	73	56	.	.	ENST00000443617.2:c.8679A>T	p.Ala2893=	p.A2893=	ENST00000443617	NM_003922.3	2893	gcA/gcT	0	1	1	UPI0000212760	0		ENST00000443617		ENSG00000103657	4867		129			HGNC	p.A2893A		HERC1		SNV							ENST00000443617	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870		A		A		8767/15137				H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,splice_region_variant,p.=,ENST00000443617,NM_003922.3;							LOW	8679/14586		HERC1_HUMAN			Transcript			.	ENSP00000390158		CCDS45277.1			1	
PCF11	0	LGGM	GRCh37	11	82877723	82877723	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090798	H090798N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	71	60	.	.	ENST00000298281.4:c.1784A>C	p.Lys595Thr	p.K595T	ENST00000298281	NM_015885.3	595	aAa/aCa	0	1	1	UPI00001BB2B7	0	NA	ENST00000298281		ENSG00000165494	30097		131	0.975		HGNC	p.K595T		PCF11		SNV							ENST00000530304	protein_coding	getma.org/?cm=var&var=hg19,11,82877723,A,C&fts=all		hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921		K/T		C	low	2236/7677		getma.org/?cm=msa&ty=f&p=PCF11_HUMAN&rb=528&re=727&var=K595T	deleterious(0.03)	E9PKN0_HUMAN			YES	PCF11,missense_variant,p.Lys595Thr,ENST00000298281,NM_015885.3;PCF11,missense_variant,p.Lys595Thr,ENST00000530660,;PCF11,missense_variant,p.Lys595Thr,ENST00000530304,;PCF11,upstream_gene_variant,,ENST00000530906,;PCF11,downstream_gene_variant,,ENST00000533018,;							MODERATE	1784/4668	K595T	PCF11_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000298281		CCDS44689.1			1	
CNTNAP4	0	LGGM	GRCh37	16	76461396	76461396	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090798	H090798N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	102	64	.	.	ENST00000478060.1:c.363C>A	p.Leu121=	p.L121=	ENST00000478060	NM_138994.3	121	ctC/ctA	0	1	1	UPI000059D3C6	0		ENST00000478060		ENSG00000152910	18747		166			HGNC	p.L145L		CNTNAP4		SNV							ENST00000377504	protein_coding			PROSITE_profiles:PS50022,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560,Pfam_domain:PF00754,Gene3D:2.60.120.260,SMART_domains:SM00231,Superfamily_domains:SSF49785		L		A		363/3708				H3BPC8_HUMAN			YES	CNTNAP4,synonymous_variant,p.=,ENST00000307431,NM_033401.3;CNTNAP4,synonymous_variant,p.=,ENST00000377504,;CNTNAP4,synonymous_variant,p.=,ENST00000476707,;CNTNAP4,synonymous_variant,p.=,ENST00000478060,NM_138994.3;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000463177,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000471618,;							LOW	363/3708		CNTP4_HUMAN			Transcript			.	ENSP00000418741		CCDS10924.2			1	
WNT5A	0	LGGM	GRCh37	3	55513414	55513414	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	55	74	.	.	ENST00000474267.1:c.319C>T	p.Gln107Ter	p.Q107*	ENST00000474267		107	Caa/Taa	0	1		UPI0000231C66	0	NA	ENST00000264634		ENSG00000114251	12784		129	0		HGNC	p.Q92X		WNT5A		SNV			1				ENST00000497027	protein_coding	getma.org/?cm=var&var=hg19,3,55513414,G,A&fts=all		hmmpanther:PTHR12027:SF33,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097		Q/*		A	NA	637/5837		NA						WNT5A,stop_gained,p.Gln107Ter,ENST00000474267,;WNT5A,stop_gained,p.Gln107Ter,ENST00000264634,NM_003392.4;WNT5A,stop_gained,p.Gln92Ter,ENST00000497027,NM_001256105.1;WNT5A,stop_gained,p.Gln92Ter,ENST00000482079,;WNT5A,non_coding_transcript_exon_variant,,ENST00000497817,;							HIGH	319/1143	Q107*	WNT5A_HUMAN			Transcript			.	ENSP00000264634		CCDS46850.1			1	
FLG2	0	LGGM	GRCh37	1	152325693	152325693	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090798	H090798N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090798N.bam, H090798T.bam	Illumina HiSeq	299	79	.	.	ENST00000388718.5:c.4569C>T	p.Gly1523=	p.G1523=	ENST00000388718	NM_001014342.2	1523	ggC/ggT	0	1	1	UPI00004E1DE5	0		ENST00000388718		ENSG00000143520	33276		378			HGNC	p.G1523G		FLG2		SNV							ENST00000388718	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G		A		4642/9124							YES	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							LOW	4569/7176		FILA2_HUMAN			Transcript			.	ENSP00000373370		CCDS30861.1			1	
RBM10	0	LGGM	GRCh37	X	47045523	47045523	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	10	2	.	.	ENST00000329236.7:c.2256G>T	p.Pro752=	p.P752=	ENST00000329236	NM_001204466.1	752	ccG/ccT	0	1	1	UPI0000070DF1	0		ENST00000377604		ENSG00000182872	9896		12			HGNC	p.P753P	rs782040598	RBM10	0.000202	SNV			1				ENST00000345781	protein_coding			hmmpanther:PTHR13948:SF4,hmmpanther:PTHR13948		P		T		3232/3747							YES	RBM10,synonymous_variant,p.=,ENST00000377604,NM_001204468.1,NM_001204467.1,NM_005676.4;RBM10,synonymous_variant,p.=,ENST00000329236,NM_001204466.1,NM_152856.2;RBM10,synonymous_variant,p.=,ENST00000345781,;UBA1,upstream_gene_variant,,ENST00000377351,NM_153280.2;RBM10,downstream_gene_variant,,ENST00000478410,;RBM10,downstream_gene_variant,,ENST00000496012,;							LOW	2490/2793		RBM10_HUMAN			Transcript			.	ENSP00000366829	4.12E-05	CCDS14274.1			1	
KIAA1239	0	LGGM	GRCh37	4	37246813	37246813	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	9	2	.	.	ENST00000309447.5:c.124C>A	p.Arg42=	p.R42=	ENST00000309447	NM_001144990.1	42	Cgg/Agg	0	1	1	UPI00006C0875	0		ENST00000309447		ENSG00000174145	29229		11			HGNC	p.R42R		KIAA1239		SNV							ENST00000309447	protein_coding					R		A		972/8325							YES	KIAA1239,synonymous_variant,p.=,ENST00000309447,NM_001144990.1;MIR4801,upstream_gene_variant,,ENST00000582704,;							LOW	124/5229		K1239_HUMAN			Transcript			.	ENSP00000309501		CCDS47040.1			1	
NPIPB5	0	LGGM	GRCh37	16	22545630	22545639	+	frameshift_variant	Frame_Shift_Del	DEL	TCCACCCTCA	TCCACCCTCA	-	novel	by Submitter	H090866	H090866N.bam	TCCACCCTCA	TCCACCCTCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	4	2	.	.	ENST00000424340.1:c.1326_1335del	p.Pro443GlnfsTer137	p.P443Qfs*137	ENST00000424340	NM_001135865.1	442	gcTCCACCCTCA/gc	0	1	1	UPI000181EF82	0		ENST00000424340		ENSG00000243716	37233		6			HGNC	p.442_445del		NPIPB5		deletion							ENST00000415833	protein_coding			hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1,Low_complexity_(Seg):seg		APPS/X		-		1605-1614/3801				U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,frameshift_variant,p.Pro443GlnfsTer137,ENST00000424340,NM_001135865.1;NPIPB5,frameshift_variant,p.Pro443GlnfsTer137,ENST00000517539,;NPIPB5,frameshift_variant,p.Pro443GlnfsTer137,ENST00000415833,;NPIPB5,frameshift_variant,p.Pro443GlnfsTer137,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;							HIGH	1326-1335/3402		NPIB5_HUMAN			Transcript			.	ENSP00000440703		CCDS45443.1			1	
HK2	0	LGGM	GRCh37	2	75101565	75101565	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	10	2	.	.	ENST00000290573.2:c.864G>T	p.Pro288=	p.P288=	ENST00000290573	NM_000189.4	288	ccG/ccT	0	1	1	UPI00000706E4	0		ENST00000290573		ENSG00000159399	4923		12			HGNC	p.P260P		HK2		SNV							ENST00000409174	protein_coding			Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF4,Superfamily_domains:SSF53067		P		T		1464/5772				Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN			YES	HK2,synonymous_variant,p.=,ENST00000290573,NM_000189.4;HK2,synonymous_variant,p.=,ENST00000409174,;							LOW	864/2754		HXK2_HUMAN			Transcript			.	ENSP00000290573		CCDS1956.1			1	
ZNF407	0	LGGM	GRCh37	18	72776307	72776307	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	4	2	.	.	ENST00000299687.5:c.6630C>A	p.Ala2210=	p.A2210=	ENST00000299687	NM_017757.2	2210	gcC/gcA	0	1	1	UPI0000F58ED1	0		ENST00000299687		ENSG00000215421	19904		6			HGNC	p.A2210A		ZNF407		SNV							ENST00000299687	protein_coding					A		A		6630/7948							YES	ZNF407,synonymous_variant,p.=,ENST00000299687,NM_017757.2;ZNF407,downstream_gene_variant,,ENST00000582214,;ZNF407,non_coding_transcript_exon_variant,,ENST00000579200,;							LOW	6630/6747		ZN407_HUMAN			Transcript			.	ENSP00000299687		CCDS45885.1			1	
ADCY4	0	LGGM	GRCh37	14	24799534	24799534	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	23	3	.	.	ENST00000310677.4:c.931-33G>T		*311*	ENST00000310677	NM_001198568.1			0	1	1	UPI00000398CC	0		ENST00000310677		ENSG00000129467	235		26			HGNC	-		ADCY4		SNV							ENST00000554781	protein_coding							A		-/3415				Q96KY6_HUMAN,Q86TZ7_HUMAN,H0YN72_HUMAN,H0YLM0_HUMAN			YES	ADCY4,intron_variant,,ENST00000310677,NM_001198568.1,NM_139247.3,NM_001198592.1;ADCY4,intron_variant,,ENST00000554068,;ADCY4,intron_variant,,ENST00000418030,;ADCY4,intron_variant,,ENST00000396747,;RP11-934B9.3,downstream_gene_variant,,ENST00000555591,;ADCY4,downstream_gene_variant,,ENST00000559167,;ADCY4,downstream_gene_variant,,ENST00000561138,;ADCY4,upstream_gene_variant,,ENST00000556932,;ADCY4,downstream_gene_variant,,ENST00000558563,;ADCY4,downstream_gene_variant,,ENST00000558125,;ADCY4,splice_acceptor_variant,,ENST00000554781,;ADCY4,non_coding_transcript_exon_variant,,ENST00000554577,;ADCY4,non_coding_transcript_exon_variant,,ENST00000545213,;ADCY4,intron_variant,,ENST00000557056,;ADCY4,downstream_gene_variant,,ENST00000557099,;ADCY4,downstream_gene_variant,,ENST00000554674,;ADCY4,upstream_gene_variant,,ENST00000554959,;							MODIFIER	-/3234		ADCY4_HUMAN			Transcript			.	ENSP00000312126		CCDS9627.1			1	
STARD13	0	LGGM	GRCh37	13	33685024	33685024	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	3	.	.	ENST00000336934.5:c.2628C>A	p.Ala876=	p.A876=	ENST00000336934	NM_178006.3	876	gcC/gcA	0	1	1	UPI000006226E	0		ENST00000336934		ENSG00000133121	19164		39			HGNC	p.A758A		STARD13		SNV							ENST00000399365	protein_coding			hmmpanther:PTHR12659:SF6,hmmpanther:PTHR12659		A		T		2745/5917				B3KT04_HUMAN,B2R789_HUMAN			YES	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,downstream_gene_variant,,ENST00000491333,;							LOW	2628/3342		STA13_HUMAN			Transcript			.	ENSP00000338785		CCDS9348.1			1	
ITSN1	0	LGGM	GRCh37	21	35144480	35144480	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	3	.	.	ENST00000381318.3:c.1158G>T	p.Leu386=	p.L386=	ENST00000381318	NM_003024.2	386	ctG/ctT	0	1	1	UPI00001403C6	0		ENST00000381318		ENSG00000205726	6183		33			HGNC	p.L326L		ITSN1		SNV							ENST00000381283	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216		L		T		1446/17015				D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,synonymous_variant,p.=,ENST00000381318,NM_003024.2;ITSN1,synonymous_variant,p.=,ENST00000381285,;ITSN1,synonymous_variant,p.=,ENST00000399367,;ITSN1,synonymous_variant,p.=,ENST00000381291,NM_001001132.1;ITSN1,synonymous_variant,p.=,ENST00000399352,;ITSN1,synonymous_variant,p.=,ENST00000399349,;ITSN1,synonymous_variant,p.=,ENST00000399326,;ITSN1,synonymous_variant,p.=,ENST00000437442,;ITSN1,synonymous_variant,p.=,ENST00000399355,;ITSN1,synonymous_variant,p.=,ENST00000399353,;ITSN1,synonymous_variant,p.=,ENST00000379960,;ITSN1,synonymous_variant,p.=,ENST00000399338,;ITSN1,synonymous_variant,p.=,ENST00000381283,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,non_coding_transcript_exon_variant,,ENST00000488166,;ITSN1,upstream_gene_variant,,ENST00000474132,;							LOW	1158/5166		ITSN1_HUMAN			Transcript			.	ENSP00000370719		CCDS33545.1			1	
MROH2B	0	LGGM	GRCh37	5	41017997	41017997	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	3	.	.	ENST00000399564.4:c.2839C>A	p.Arg947Ser	p.R947S	ENST00000399564	NM_173489.4	947	Cgt/Agt	0	1	1	UPI000020CA04	0	NA	ENST00000399564		ENSG00000171495	26857		43	2.275		HGNC	p.R947S		MROH2B		SNV							ENST00000399564	protein_coding	getma.org/?cm=var&var=hg19,5,41017997,G,T&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF15,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		R/S		T	medium	3290/5239		getma.org/?cm=msa&ty=f&p=HTRB2_HUMAN&rb=11&re=1583&var=R947S	deleterious(0)	F5GZ06_HUMAN			YES	MROH2B,missense_variant,p.Arg947Ser,ENST00000399564,NM_173489.4;MROH2B,missense_variant,p.Arg502Ser,ENST00000506092,;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,;							MODERATE	2839/4758	R947S	MRO2B_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000382476		CCDS47202.1			1	
COLGALT1	0	LGGM	GRCh37	19	17692187	17692187	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	3	.	.	ENST00000252599.4:c.1803C>A	p.Ser601Arg	p.S601R	ENST00000252599	NM_024656.2	601	agC/agA	0	1	1	UPI000003B0F7	0	NA	ENST00000252599		ENSG00000130309	26182		33	0.345		HGNC	p.S601R		COLGALT1		SNV							ENST00000252599	protein_coding	getma.org/?cm=var&var=hg19,19,17692187,C,A&fts=all		hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF10		S/R		A	neutral	1923/3704		getma.org/?cm=msa&ty=f&p=GT251_HUMAN&rb=526&re=622&var=S601R	tolerated(0.55)	Q8WUI9_HUMAN,M0QYH0_HUMAN,B3KQ10_HUMAN			YES	COLGALT1,missense_variant,p.Ser601Arg,ENST00000252599,NM_024656.2;COLGALT1,downstream_gene_variant,,ENST00000597147,;COLGALT1,non_coding_transcript_exon_variant,,ENST00000593832,;COLGALT1,downstream_gene_variant,,ENST00000597075,;							MODERATE	1803/1869	S601R	GT251_HUMAN			Transcript		benign(0.005)	.	ENSP00000252599		CCDS12363.1			1	
HDAC6	0	LGGM	GRCh37	X	48678543	48678543	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	26	3	.	.	ENST00000334136.5:c.2218G>T	p.Gly740Cys	p.G740C	ENST00000334136		740	Ggc/Tgc	0	1	1	UPI0000073E04	0	getma.org/pdb.php?prot=HDAC6_HUMAN&from=486&to=799&var=G740C	ENST00000334136		ENSG00000094631	14064		29	4.31		HGNC	p.G740C		HDAC6		SNV			1				ENST00000334136	protein_coding	getma.org/?cm=var&var=hg19,X,48678543,G,T&fts=all		hmmpanther:PTHR10625:SF102,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,Superfamily_domains:SSF52768,Prints_domain:PR01270		G/C		T	high	2396/4190		getma.org/?cm=msa&ty=f&p=HDAC6_HUMAN&rb=486&re=799&var=G740C	deleterious(0)	E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN			YES	HDAC6,missense_variant,p.Gly740Cys,ENST00000334136,;HDAC6,missense_variant,p.Gly740Cys,ENST00000376619,NM_006044.2;HDAC6,missense_variant,p.Gly754Cys,ENST00000444343,;HDAC6,upstream_gene_variant,,ENST00000430858,;HDAC6,non_coding_transcript_exon_variant,,ENST00000486665,;HDAC6,non_coding_transcript_exon_variant,,ENST00000498808,;HDAC6,intron_variant,,ENST00000480525,;HDAC6,non_coding_transcript_exon_variant,,ENST00000477528,;HDAC6,non_coding_transcript_exon_variant,,ENST00000486227,;HDAC6,non_coding_transcript_exon_variant,,ENST00000488543,;HDAC6,non_coding_transcript_exon_variant,,ENST00000470942,;HDAC6,downstream_gene_variant,,ENST00000485102,;HDAC6,downstream_gene_variant,,ENST00000478095,;HDAC6,downstream_gene_variant,,ENST00000495515,;HDAC6,downstream_gene_variant,,ENST00000465457,;HDAC6,downstream_gene_variant,,ENST00000483506,;HDAC6,downstream_gene_variant,,ENST00000489053,;HDAC6,downstream_gene_variant,,ENST00000488905,;							MODERATE	2218/3648	G740C	HDAC6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000334061		CCDS14306.1			1	
ALDH6A1	0	LGGM	GRCh37	14	74531936	74531936	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	3	.	.	ENST00000553458.1:c.1352C>A	p.Thr451Asn	p.T451N	ENST00000553458	NM_001278593.1	451	aCc/aAc	0	1	1	UPI0000001610	0	getma.org/pdb.php?prot=MMSA_HUMAN&from=48&to=512&var=T451N	ENST00000553458		ENSG00000119711	7179		39	4.755		HGNC	p.T168N		ALDH6A1		SNV			1				ENST00000555126	protein_coding	getma.org/?cm=var&var=hg19,14,74531936,G,T&fts=all		Superfamily_domains:SSF53720,Pfam_domain:PF00171,TIGRFAM_domain:TIGR01722,Gene3D:3.40.309.10,hmmpanther:PTHR11699:SF27,hmmpanther:PTHR11699		T/N		T	high	1451/5499		getma.org/?cm=msa&ty=f&p=MMSA_HUMAN&rb=48&re=512&var=T451N	deleterious(0)	G3V4Z4_HUMAN			YES	ALDH6A1,missense_variant,p.Thr451Asn,ENST00000553458,NM_001278593.1,NM_005589.3,NM_001278594.1;ALDH6A1,missense_variant,p.Thr438Asn,ENST00000350259,;ALDH6A1,missense_variant,p.Thr168Asn,ENST00000555126,;CCDC176,3_prime_UTR_variant,,ENST00000394009,NM_025057.2;CCDC176,intron_variant,,ENST00000553773,;AC005484.5,intron_variant,,ENST00000492026,;ALDH6A1,non_coding_transcript_exon_variant,,ENST00000554501,;							MODERATE	1352/1608	T451N	MMSA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000450436		CCDS9826.1			1	
NHSL1	0	LGGM	GRCh37	6	138768220	138768220	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	3	.	.	ENST00000427025.2:c.594G>T	p.Ser198=	p.S198=	ENST00000427025	NM_020464.1	198	tcG/tcT	0	1	1	UPI0001750345	0		ENST00000427025		ENSG00000135540	21021		33			HGNC	p.S198S		NHSL1		SNV							ENST00000427025	protein_coding			hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3		S		A		1223/7500				B4DS58_HUMAN			YES	NHSL1,synonymous_variant,p.=,ENST00000427025,NM_020464.1;NHSL1,synonymous_variant,p.=,ENST00000343505,NM_001144060.1;NHSL1,synonymous_variant,p.=,ENST00000342260,;NHSL1,synonymous_variant,p.=,ENST00000491526,;NHSL1,downstream_gene_variant,,ENST00000533765,;NHSL1,non_coding_transcript_exon_variant,,ENST00000426841,;							LOW	594/4833		NHSL1_HUMAN			Transcript			.	ENSP00000394546		CCDS55063.1			1	
GRAMD2	0	LGGM	GRCh37	15	72455640	72455640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	34	3	.	.	ENST00000309731.7:c.923G>T	p.Trp308Leu	p.W308L	ENST00000309731	NM_001012642.2	308	tGg/tTg	0	1	1	UPI00001FE7DE	0	NA	ENST00000309731		ENSG00000175318	27287		37	1.735		HGNC	p.W308L		GRAMD2		SNV							ENST00000309731	protein_coding	getma.org/?cm=var&var=hg19,15,72455640,C,A&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF7		W/L		A	low	937/3281		getma.org/?cm=msa&ty=f&p=GRAM2_HUMAN&rb=190&re=352&var=W308L	tolerated(0.23)	B4E188_HUMAN			YES	GRAMD2,missense_variant,p.Trp308Leu,ENST00000309731,NM_001012642.2;GRAMD2,downstream_gene_variant,,ENST00000564129,;GRAMD2,downstream_gene_variant,,ENST00000568594,;GRAMD2,downstream_gene_variant,,ENST00000570275,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564184,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567662,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000565233,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567029,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564773,;GRAMD2,downstream_gene_variant,,ENST00000567637,;GRAMD2,downstream_gene_variant,,ENST00000562288,;							MODERATE	923/1065	W308L	GRAM2_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000311657		CCDS32283.1			1	
LYPD6	0	LGGM	GRCh37	2	150294328	150294328	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	3	.	.	ENST00000334166.4:c.106C>A	p.Leu36Ile	p.L36I	ENST00000334166	NM_194317.3	36	Ctc/Atc	0	1	1	UPI000000DB99	0	NA	ENST00000334166		ENSG00000187123	28751		39	1.6		HGNC	p.L36I		LYPD6		SNV							ENST00000392854	protein_coding	getma.org/?cm=var&var=hg19,2,150294328,C,A&fts=all		hmmpanther:PTHR31171,hmmpanther:PTHR31171:SF0		L/I		A	low	363/4071		getma.org/?cm=msa&ty=f&p=LYPD6_HUMAN&rb=1&re=171&var=L36I	deleterious(0.02)	C9IYE7_HUMAN			YES	LYPD6,missense_variant,p.Leu36Ile,ENST00000334166,NM_194317.3;LYPD6,missense_variant,p.Leu36Ile,ENST00000409381,NM_001195685.1;LYPD6,missense_variant,p.Leu36Ile,ENST00000414420,;LYPD6,missense_variant,p.Leu36Ile,ENST00000392854,;LYPD6,missense_variant,p.Leu36Ile,ENST00000418762,;AC007394.3,upstream_gene_variant,,ENST00000421941,;							MODERATE	106/516	L36I	LYPD6_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000334463		CCDS2188.1			1	
ZNF317	0	LGGM	GRCh37	19	9267959	9267959	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	3	.	.	ENST00000247956.6:c.178C>A	p.Gln60Lys	p.Q60K	ENST00000247956	NM_020933.4	60	Caa/Aaa	0	1	1	UPI0000366D00	0	getma.org/pdb.php?prot=ZN317_HUMAN&from=57&to=97&var=Q60K	ENST00000247956		ENSG00000130803	13507		24	-0.235		HGNC	p.Q60K		ZNF317		SNV							ENST00000247956	protein_coding	getma.org/?cm=var&var=hg19,19,9267959,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF22,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Q/K		A	neutral	483/4073		getma.org/?cm=msa&ty=f&p=ZN317_HUMAN&rb=57&re=97&var=Q60K	tolerated(1)				YES	ZNF317,missense_variant,p.Gln60Lys,ENST00000247956,NM_020933.4;ZNF317,missense_variant,p.Gln60Lys,ENST00000360385,NM_001190791.1;ZNF317,upstream_gene_variant,,ENST00000591508,;ZNF317,missense_variant,p.Gln60Lys,ENST00000591278,;ZNF317,non_coding_transcript_exon_variant,,ENST00000590152,;ZNF317,non_coding_transcript_exon_variant,,ENST00000419608,;							MODERATE	178/1788	Q60K	ZN317_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000247956		CCDS12210.1			1	
EML1	0	LGGM	GRCh37	14	100364590	100364590	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	29	3	.	.	ENST00000334192.4:c.905G>T	p.Arg302Leu	p.R302L	ENST00000334192	NM_001008707.1	302	cGg/cTg	0	1		UPI000013D278	0	NA	ENST00000262233		ENSG00000066629	3330		32	1.63		HGNC	p.R25L		EML1		SNV							ENST00000554553	protein_coding	getma.org/?cm=var&var=hg19,14,100364590,G,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,SMART_domains:SM00320,Superfamily_domains:SSF50998		R/L		T	low	987/4535		getma.org/?cm=msa&ty=f&p=EMAL1_HUMAN&rb=261&re=299&var=R283L	deleterious(0.02)	G3V500_HUMAN,G3V4U5_HUMAN,G3V497_HUMAN				EML1,missense_variant,p.Arg283Leu,ENST00000262233,NM_004434.2;EML1,missense_variant,p.Arg302Leu,ENST00000334192,NM_001008707.1;EML1,missense_variant,p.Arg271Leu,ENST00000327921,;EML1,missense_variant,p.Arg270Leu,ENST00000554479,;EML1,missense_variant,p.Arg252Leu,ENST00000556714,;EML1,missense_variant,p.Arg8Leu,ENST00000554386,;EML1,upstream_gene_variant,,ENST00000555812,;EML1,missense_variant,p.Arg25Leu,ENST00000554553,;EML1,non_coding_transcript_exon_variant,,ENST00000555277,;							MODERATE	848/2448	R283L	EMAL1_HUMAN			Transcript		possibly_damaging(0.565)	.	ENSP00000262233		CCDS32155.1			1	
MAPKBP1	0	LGGM	GRCh37	15	42117536	42117536	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	3	.	.	ENST00000456763.2:c.4447C>A	p.Pro1483Thr	p.P1483T	ENST00000456763	NM_001128608.1	1483	Cct/Act	0	1	1	UPI00002375CB	0	NA	ENST00000456763		ENSG00000137802	29536		22	1.67		HGNC	p.P1200T		MAPKBP1		SNV							ENST00000514566	protein_coding	getma.org/?cm=var&var=hg19,15,42117536,C,A&fts=all		Low_complexity_(Seg):seg		P/T		A	low	4643/7158		getma.org/?cm=msa&ty=f&p=MABP1_HUMAN&rb=1332&re=1514&var=P1483T	tolerated(0.1)	D6R9F7_HUMAN			YES	MAPKBP1,missense_variant,p.Pro1477Thr,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Pro1483Thr,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Pro1360Thr,ENST00000221214,;MAPKBP1,missense_variant,p.Pro1200Thr,ENST00000514566,NM_001265611.1;MAPKBP1,missense_variant,p.Pro1316Thr,ENST00000260357,;PLA2G4B,upstream_gene_variant,,ENST00000542534,NM_005090.3;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000382448,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000342159,NM_001198588.1;JMJD7,upstream_gene_variant,,ENST00000397299,NM_001114632.1;JMJD7,upstream_gene_variant,,ENST00000408047,;JMJD7,upstream_gene_variant,,ENST00000431823,;RP11-23P13.4,non_coding_transcript_exon_variant,,ENST00000510176,;RP11-23P13.4,downstream_gene_variant,,ENST00000512295,;JMJD7,upstream_gene_variant,,ENST00000405106,;MAPKBP1,3_prime_UTR_variant,,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000491746,;JMJD7-PLA2G4B,upstream_gene_variant,,ENST00000490848,;MAPKBP1,downstream_gene_variant,,ENST00000508050,;MAPKBP1,downstream_gene_variant,,ENST00000512433,;MAPKBP1,downstream_gene_variant,,ENST00000502695,;MAPKBP1,downstream_gene_variant,,ENST00000506301,;							MODERATE	4447/4545	P1483T	MABP1_HUMAN			Transcript		benign(0.184)	.	ENSP00000393099		CCDS45239.1			1	
PRSS36	0	LGGM	GRCh37	16	31150644	31150644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	13	3	.	.	ENST00000268281.4:c.2383G>T	p.Ala795Ser	p.A795S	ENST00000268281	NM_173502.4	795	Gcc/Tcc	0	1	1	UPI00001FFF6A	0	getma.org/pdb.php?prot=POLS2_HUMAN&from=590&to=808&var=A795S	ENST00000268281		ENSG00000178226	26906		16	0.455		HGNC	p.A692S		PRSS36		SNV							ENST00000418068	protein_coding	getma.org/?cm=var&var=hg19,16,31150644,C,A&fts=all		PIRSF_domain:PIRSF037933,PROSITE_profiles:PS50240,SMART_domains:SM00020,Superfamily_domains:SSF50494		A/S		A	neutral	2442/2840		getma.org/?cm=msa&ty=f&p=POLS2_HUMAN&rb=590&re=808&var=A795S	tolerated(0.42)	B4DNP1_HUMAN			YES	PRSS36,missense_variant,p.Ala795Ser,ENST00000268281,NM_173502.4,NM_001258290.1;PRSS36,missense_variant,p.Ala790Ser,ENST00000569305,;PRSS36,missense_variant,p.Ala692Ser,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,;PRSS36,3_prime_UTR_variant,,ENST00000571878,;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS8,upstream_gene_variant,,ENST00000567833,;PRSS36,downstream_gene_variant,,ENST00000563693,;PRSS8,upstream_gene_variant,,ENST00000564025,;							MODERATE	2383/2568	A795S	POLS2_HUMAN			Transcript		benign(0.039)	.	ENSP00000268281		CCDS32436.1			1	
CNTNAP4	0	LGGM	GRCh37	16	76587223	76587223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	14	3	.	.	ENST00000478060.1:c.3267G>T	p.Gln1089His	p.Q1089H	ENST00000478060	NM_138994.3	1089	caG/caT	0	1	1	UPI000059D3C6	0		ENST00000478060		ENSG00000152910	18747		17			HGNC	p.Q1113H		CNTNAP4		SNV							ENST00000377504	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF560,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899		Q/H		T		3267/3708			tolerated(0.59)	H3BPC8_HUMAN			YES	CNTNAP4,missense_variant,p.Gln1161His,ENST00000307431,NM_033401.3;CNTNAP4,missense_variant,p.Gln1113His,ENST00000377504,;CNTNAP4,missense_variant,p.Gln1165His,ENST00000476707,;CNTNAP4,missense_variant,p.Gln1089His,ENST00000478060,NM_138994.3;RP11-58C22.1,upstream_gene_variant,,ENST00000563764,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469589,;CNTNAP4,non_coding_transcript_exon_variant,,ENST00000469667,;							MODERATE	3267/3708		CNTP4_HUMAN			Transcript		benign(0.008)	.	ENSP00000418741		CCDS10924.2			1	
FAT4	0	LGGM	GRCh37	4	126412255	126412255	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	3	.	.	ENST00000394329.3:c.14278G>A	p.Ala4760Thr	p.A4760T	ENST00000394329	NM_024582.4	4760	Gca/Aca	0	1	1	UPI000155D6E3	0	NA	ENST00000394329		ENSG00000196159	23109		39	0.345		HGNC	p.A4760T		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126412255,G,A&fts=all		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41		A/T		A	neutral	14291/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=4575&re=4774&var=A4760T		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Ala4760Thr,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Ala3001Thr,ENST00000335110,;							MODERATE	14278/14946	A4760T	FAT4_HUMAN			Transcript		benign(0.175)	.	ENSP00000377862		CCDS3732.3			1	
TRIM68	0	LGGM	GRCh37	11	4624479	4624479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	46	3	.	.	ENST00000300747.5:c.518G>T	p.Trp173Leu	p.W173L	ENST00000300747	NM_018073.6	173	tGg/tTg	0	1	1	UPI00001D6F26	0	NA	ENST00000300747		ENSG00000167333	21161		49	1.59		HGNC	p.W173L		TRIM68		SNV							ENST00000300747	protein_coding	getma.org/?cm=var&var=hg19,11,4624479,C,A&fts=all		hmmpanther:PTHR24103:SF89,hmmpanther:PTHR24103		W/L		A	low	808/3352		getma.org/?cm=msa&ty=f&p=TRI68_HUMAN&rb=135&re=304&var=W173L	tolerated(0.25)	E9PP83_HUMAN			YES	TRIM68,missense_variant,p.Trp173Leu,ENST00000300747,NM_018073.6;TRIM68,5_prime_UTR_variant,,ENST00000526337,;TRIM68,intron_variant,,ENST00000533021,;TRIM68,missense_variant,p.Trp173Leu,ENST00000531101,;TRIM68,non_coding_transcript_exon_variant,,ENST00000532108,;TRIM68,non_coding_transcript_exon_variant,,ENST00000531644,;TRIM68,upstream_gene_variant,,ENST00000531717,;							MODERATE	518/1458	W173L	TRI68_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000300747		CCDS31356.1			1	
RNF144A	0	LGGM	GRCh37	2	7160739	7160739	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	41	3	.	.	ENST00000320892.6:c.437G>A	p.Cys146Tyr	p.C146Y	ENST00000320892	NM_014746.3	146	tGc/tAc	0	1	1	UPI00001E058A	0	NA	ENST00000320892		ENSG00000151692	20457		44	3.29		HGNC	p.C146Y		RNF144A		SNV							ENST00000320892	protein_coding	getma.org/?cm=var&var=hg19,2,7160739,G,A&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF99,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850		C/Y		A	medium	879/5743		getma.org/?cm=msa&ty=f&p=R144A_HUMAN&rb=91&re=156&var=C146Y	deleterious(0)	C9JLH4_HUMAN			YES	RNF144A,missense_variant,p.Cys146Tyr,ENST00000320892,NM_014746.3;RNF144A,missense_variant,p.Cys142Tyr,ENST00000432850,;RNF144A,non_coding_transcript_exon_variant,,ENST00000467276,;RNF144A,non_coding_transcript_exon_variant,,ENST00000480970,;RNF144A,downstream_gene_variant,,ENST00000471060,;							MODERATE	437/879	C146Y	R144A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321330		CCDS1657.1			1	
HR	0	LGGM	GRCh37	8	21976686	21976686	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	3	.	.	ENST00000381418.4:c.3088G>A	p.Ala1030Thr	p.A1030T	ENST00000381418	NM_005144.4	1030	Gca/Aca	0	1	1	UPI000013EB0B	0	NA	ENST00000381418		ENSG00000168453	5172		19	1.1		HGNC	p.A1030T		HR		SNV			1				ENST00000312841	protein_coding	getma.org/?cm=var&var=hg19,8,21976686,C,T&fts=all		PROSITE_profiles:PS51184,hmmpanther:PTHR12549:SF4,hmmpanther:PTHR12549,SMART_domains:SM00558		A/T		T	low	4569/6336		getma.org/?cm=msa&ty=f&p=HAIR_HUMAN&rb=1026&re=1140&var=A1030T	tolerated(0.11)	E5RK80_HUMAN			YES	HR,missense_variant,p.Ala1030Thr,ENST00000381418,NM_005144.4;HR,missense_variant,p.Ala1030Thr,ENST00000312841,NM_018411.4;HR,downstream_gene_variant,,ENST00000517699,;HR,non_coding_transcript_exon_variant,,ENST00000522039,;HR,upstream_gene_variant,,ENST00000522016,;HR,downstream_gene_variant,,ENST00000518461,;							MODERATE	3088/3570	A1030T	HAIR_HUMAN			Transcript		benign(0.01)	.	ENSP00000370826		CCDS6022.1			1	
ZNF445	0	LGGM	GRCh37	3	44491078	44491078	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	3	.	.	ENST00000425708.2:c.858G>T	p.Leu286Phe	p.L286F	ENST00000425708		286	ttG/ttT	0	1		UPI000019AD12	0	NA	ENST00000396077		ENSG00000185219	21018		43	2.395		HGNC	p.L286F		ZNF445		SNV							ENST00000396077	protein_coding	getma.org/?cm=var&var=hg19,3,44491078,C,A&fts=all		Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF48,PROSITE_profiles:PS50805		L/F		A	medium	1206/9105		getma.org/?cm=msa&ty=f&p=ZN445_HUMAN&rb=234&re=304&var=L286F	deleterious(0.01)	B7ZKX2_HUMAN				ZNF445,missense_variant,p.Leu286Phe,ENST00000425708,;ZNF445,missense_variant,p.Leu286Phe,ENST00000396077,NM_181489.5;ZNF445,downstream_gene_variant,,ENST00000460529,;							MODERATE	858/3096	L286F	ZN445_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000379387		CCDS2713.1			1	
METTL25	0	LGGM	GRCh37	12	82796816	82796816	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	3	.	.	ENST00000248306.3:c.1186C>A	p.Arg396=	p.R396=	ENST00000248306	NM_032230.2	396	Cga/Aga	0	1	1	UPI000013CC3E	0		ENST00000248306		ENSG00000127720	26228		46			HGNC	p.R31R	rs750684683	METTL25		SNV							ENST00000550298	protein_coding			Pfam_domain:PF13679,hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF0		R		A		1255/2093				F8VZA8_HUMAN			YES	METTL25,synonymous_variant,p.=,ENST00000248306,NM_032230.2;METTL25,synonymous_variant,p.=,ENST00000550298,;METTL25,downstream_gene_variant,,ENST00000548200,;METTL25,downstream_gene_variant,,ENST00000550058,;METTL25,non_coding_transcript_exon_variant,,ENST00000547357,;METTL25,downstream_gene_variant,,ENST00000551722,;	0.000117						LOW	1186/1812		MET25_HUMAN			Transcript			.	ENSP00000248306	8.24E-06	CCDS9024.1			1	
PARD3B	0	LGGM	GRCh37	2	206305378	206305378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	3	.	.	ENST00000358768.2:c.2840C>A	p.Pro947Gln	p.P947Q	ENST00000358768		947	cCa/cAa	0	1		UPI0000070178	0	NA	ENST00000406610		ENSG00000116117	14446		46	1.905		HGNC	p.P1009Q		PARD3B		SNV							ENST00000406610	protein_coding	getma.org/?cm=var&var=hg19,2,206305378,C,A&fts=all		hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF9		P/Q		A	medium	3233/8174		getma.org/?cm=msa&ty=f&p=PAR3L_HUMAN&rb=811&re=1204&var=P1009Q	tolerated(0.06)	Q587I4_HUMAN,Q53TQ6_HUMAN,Q53TP8_HUMAN,Q53TL6_HUMAN,Q53TI4_HUMAN,Q53T65_HUMAN,Q53SN0_HUMAN,Q4ZG80_HUMAN				PARD3B,missense_variant,p.Pro1009Gln,ENST00000406610,NM_205863.3,NM_057177.6,NM_152526.5;PARD3B,missense_variant,p.Pro947Gln,ENST00000358768,;PARD3B,missense_variant,p.Pro940Gln,ENST00000351153,;PARD3B,intron_variant,,ENST00000349953,;PARD3B,downstream_gene_variant,,ENST00000494482,;							MODERATE	3026/3618	P1009Q	PAR3L_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000385848					1	
TRIT1	0	LGGM	GRCh37	1	40315862	40315862	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	39	3	.	.	ENST00000316891.5:c.632G>T	p.Gly211Val	p.G211V	ENST00000316891	NM_017646.4	211	gGt/gTt	0	1	1	UPI000006E2FB	0	getma.org/pdb.php?prot=MOD5_HUMAN&from=57&to=335&var=G211V	ENST00000316891		ENSG00000043514	20286		42	2.09		HGNC	p.G211V		TRIT1		SNV							ENST00000372818	protein_coding	getma.org/?cm=var&var=hg19,1,40315862,C,A&fts=all		HAMAP:MF_00185,Pfam_domain:PF01715,hmmpanther:PTHR11088,hmmpanther:PTHR11088:SF25,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00174		G/V		A	medium	647/2112		getma.org/?cm=msa&ty=f&p=MOD5_HUMAN&rb=57&re=335&var=G211V	deleterious(0)	Q3T7C7_HUMAN,Q3T7B8_HUMAN,Q3T7B4_HUMAN			YES	TRIT1,missense_variant,p.Gly211Val,ENST00000316891,NM_017646.4;TRIT1,missense_variant,p.Gly211Val,ENST00000372818,;TRIT1,missense_variant,p.Gly131Val,ENST00000441669,;TRIT1,5_prime_UTR_variant,,ENST00000545233,;TRIT1,5_prime_UTR_variant,,ENST00000537440,;TRIT1,intron_variant,,ENST00000537223,;TRIT1,intron_variant,,ENST00000541099,;TRIT1,downstream_gene_variant,,ENST00000544981,;TRIT1,intron_variant,,ENST00000491865,;TRIT1,upstream_gene_variant,,ENST00000465417,;TRIT1,missense_variant,p.Gly211Val,ENST00000462797,;TRIT1,missense_variant,p.Gly147Val,ENST00000469476,;TRIT1,3_prime_UTR_variant,,ENST00000495175,;TRIT1,3_prime_UTR_variant,,ENST00000492612,;TRIT1,3_prime_UTR_variant,,ENST00000489945,;TRIT1,3_prime_UTR_variant,,ENST00000486825,;TRIT1,downstream_gene_variant,,ENST00000462243,;TRIT1,upstream_gene_variant,,ENST00000467774,;							MODERATE	632/1404	G211V	MOD5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000321810		CCDS30681.1			1	
CELA3A	0	LGGM	GRCh37	1	22336255	22336255	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	3	.	.	ENST00000290122.3:c.700G>T	p.Gly234Cys	p.G234C	ENST00000290122	NM_005747.4	234	Ggt/Tgt	0	1	1	UPI0000175BF8	0	getma.org/pdb.php?prot=CEL3A_HUMAN&from=29&to=263&var=G234C	ENST00000290122		ENSG00000142789	15944		33	4.29		HGNC	p.G42C		CELA3A		SNV							ENST00000400271	protein_coding	getma.org/?cm=var&var=hg19,1,22336255,G,T&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF11,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		G/C		T	high	719/887		getma.org/?cm=msa&ty=f&p=CEL3A_HUMAN&rb=29&re=263&var=G234C	deleterious(0)	B1AQ52_HUMAN			YES	CELA3A,missense_variant,p.Gly234Cys,ENST00000290122,NM_005747.4;CELA3A,missense_variant,p.Gly42Cys,ENST00000400271,;CELA3A,downstream_gene_variant,,ENST00000374663,;RNU6-776P,upstream_gene_variant,,ENST00000364403,;RN7SL186P,upstream_gene_variant,,ENST00000466485,;							MODERATE	700/813	G234C	CEL3A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000290122		CCDS220.1			1	
SLC29A4	0	LGGM	GRCh37	7	5340078	5340078	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	34	3	.	.	ENST00000396872.3:c.1235G>T	p.Trp412Leu	p.W412L	ENST00000396872		412	tGg/tTg	0	1		UPI0000051F6F	0	NA	ENST00000297195		ENSG00000164638	23097		37	1.365		HGNC	p.W412L		SLC29A4		SNV							ENST00000396872	protein_coding	getma.org/?cm=var&var=hg19,7,5340078,G,T&fts=all		Pfam_domain:PF01733,hmmpanther:PTHR10332,hmmpanther:PTHR10332:SF4,Superfamily_domains:SSF103473		W/L		T	low	1360/2839		getma.org/?cm=msa&ty=f&p=S29A4_HUMAN&rb=170&re=506&var=W412L	tolerated(0.05)	C9IYM7_HUMAN				SLC29A4,missense_variant,p.Trp412Leu,ENST00000396872,;SLC29A4,missense_variant,p.Trp412Leu,ENST00000297195,NM_001040661.1,NM_153247.2;SLC29A4,missense_variant,p.Trp398Leu,ENST00000406453,;SLC29A4,non_coding_transcript_exon_variant,,ENST00000439491,;							MODERATE	1235/1593	W412L	S29A4_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000297195		CCDS5340.1			1	
C17orf67	0	LGGM	GRCh37	17	54872457	54872457	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	14	3	.	.	ENST00000397861.2:c.241C>A	p.His81Asn	p.H81N	ENST00000397861		81	Cac/Aac	0	1	1	UPI000015F12E	0	NA	ENST00000397861		ENSG00000214226	27900		17	0.805		HGNC	p.H81N		C17orf67		SNV							ENST00000397861	protein_coding	getma.org/?cm=var&var=hg19,17,54872457,G,T&fts=all		Pfam_domain:PF15076		H/N		T	low	1521/2013		getma.org/?cm=msa&ty=f&p=CQ067_HUMAN&rb=1&re=113&var=H105N	deleterious_low_confidence(0.01)				YES	C17orf67,missense_variant,p.His81Asn,ENST00000397861,;C17orf67,missense_variant,p.His105Asn,ENST00000575658,NM_001085430.2;C17orf67,missense_variant,p.His105Asn,ENST00000397862,;C17orf67,non_coding_transcript_exon_variant,,ENST00000570754,;							MODERATE	241/273	H105N	CQ067_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000380959		CCDS42364.2			1	
SMARCB1	0	LGGM	GRCh37	22	24129413	24129413	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	3	.	.	ENST00000263121.7:c.57G>T	p.Leu19=	p.L19=	ENST00000263121	NM_003073.3	19	ctG/ctT	0	1	1	UPI00000019FA	0		ENST00000263121		ENSG00000099956	11103		30			HGNC	p.L19L		SMARCB1		SNV			1				ENST00000263121	protein_coding			hmmpanther:PTHR10019,PIRSF_domain:PIRSF038126		L		T		253/1690							YES	SMARCB1,synonymous_variant,p.=,ENST00000344921,;SMARCB1,synonymous_variant,p.=,ENST00000263121,NM_003073.3;SMARCB1,synonymous_variant,p.=,ENST00000407422,NM_001007468.1;SMARCB1,synonymous_variant,p.=,ENST00000407082,;SMARCB1,synonymous_variant,p.=,ENST00000417137,;MMP11,downstream_gene_variant,,ENST00000215743,NM_005940.3;AP000349.1,upstream_gene_variant,,ENST00000598975,;MMP11,downstream_gene_variant,,ENST00000488363,;MMP11,downstream_gene_variant,,ENST00000480185,;MMP11,downstream_gene_variant,,ENST00000465385,;MMP11,downstream_gene_variant,,ENST00000437086,;MMP11,downstream_gene_variant,,ENST00000434318,;MMP11,downstream_gene_variant,,ENST00000493132,;							LOW	57/1158		SNF5_HUMAN			Transcript			.	ENSP00000263121		CCDS13817.1			1	
TRABD	0	LGGM	GRCh37	22	50632013	50632013	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	3	.	.	ENST00000303434.4:c.42G>T	p.Val14=	p.V14=	ENST00000303434	NM_025204.2	14	gtG/gtT	0	1	1	UPI0000049DAE	0		ENST00000303434		ENSG00000170638	28805		43			HGNC	p.V14V		TRABD		SNV							ENST00000395829	protein_coding			hmmpanther:PTHR21530,hmmpanther:PTHR21530:SF0,Low_complexity_(Seg):seg		V		T		161/2329							YES	TRABD,synonymous_variant,p.=,ENST00000303434,NM_025204.2;TRABD,synonymous_variant,p.=,ENST00000380909,;TRABD,synonymous_variant,p.=,ENST00000395827,;TRABD,synonymous_variant,p.=,ENST00000395829,;RP3-402G11.25,upstream_gene_variant,,ENST00000607943,;TRABD,non_coding_transcript_exon_variant,,ENST00000463233,;TRABD,upstream_gene_variant,,ENST00000472677,;							LOW	42/1131		TRABD_HUMAN			Transcript			.	ENSP00000305664		CCDS14086.1			1	
LILRB1	0	LGGM	GRCh37	19	55146595	55146595	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	3	.	.	ENST00000324602.7:c.1527G>T	p.Val509=	p.V509=	ENST00000324602	NM_001278399.1	509	gtG/gtT	0	1	1	UPI0000034BFC	0		ENST00000324602		ENSG00000104972	6605		27			HGNC	p.V508V		LILRB1		SNV							ENST00000396331	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89		V		T		1752/2834							YES	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,intron_variant,,ENST00000448689,;AC009892.10,downstream_gene_variant,,ENST00000456337,;LILRB1,non_coding_transcript_exon_variant,,ENST00000462628,;LILRB1,downstream_gene_variant,,ENST00000473412,;LILRB1,downstream_gene_variant,,ENST00000480257,;LILRB1,non_coding_transcript_exon_variant,,ENST00000480375,;LILRB1,non_coding_transcript_exon_variant,,ENST00000487425,;LILRB1,intron_variant,,ENST00000421584,;							LOW	1527/1959		LIRB1_HUMAN			Transcript			.	ENSP00000315997		CCDS42614.1			1	
EPG5	0	LGGM	GRCh37	18	43496109	43496109	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	32	3	.	.	ENST00000282041.5:c.3447G>T	p.Trp1149Cys	p.W1149C	ENST00000282041	NM_020964.2	1149	tgG/tgT	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		35	1.955		HGNC	p.W24C		EPG5		SNV			1				ENST00000587884	protein_coding	getma.org/?cm=var&var=hg19,18,43496109,C,A&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		W/C		A	medium	3482/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=W1149C	deleterious(0)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Trp1149Cys,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,non_coding_transcript_exon_variant,,ENST00000586655,;EPG5,missense_variant,p.Trp24Cys,ENST00000587884,;EPG5,missense_variant,p.Trp24Cys,ENST00000592272,;EPG5,missense_variant,p.Trp24Cys,ENST00000590884,;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;							MODERATE	3447/7740	W1149C	EPG5_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000282041		CCDS11926.2			1	
HIST1H4E	0	LGGM	GRCh37	6	26204885	26204885	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	3	.	.	ENST00000360441.4:c.13G>A	p.Gly5Ser	p.G5S	ENST00000360441	NM_003545.3	5	Ggc/Agc	0	1	1	UPI000000003C	0		ENST00000360441		ENSG00000198518	4790		47			HGNC	p.G5S		HIST1H4E		SNV							ENST00000360441	protein_coding			Prints_domain:PR00623,Superfamily_domains:SSF47113,Gene3D:1.10.20.10,hmmpanther:PTHR10484,Low_complexity_(Seg):seg		G/S		A		28/1409			tolerated_low_confidence(0.08)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4E,missense_variant,p.Gly5Ser,ENST00000360441,NM_003545.3;HIST1H2BF,downstream_gene_variant,,ENST00000359985,NM_003522.3;RP1-34B20.4,downstream_gene_variant,,ENST00000405418,;							MODERATE	13/312		H4_HUMAN			Transcript		unknown(0)	.	ENSP00000353624		CCDS4593.1			1	
CHGB	0	LGGM	GRCh37	20	5905632	5905632	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	3	.	.	ENST00000378961.4:c.1971A>T	p.Glu657Asp	p.E657D	ENST00000378961	NM_001819.2	657	gaA/gaT	0	1	1	UPI000013C63D	0	NA	ENST00000378961		ENSG00000089199	1930		20	2.175		HGNC	p.E657D		CHGB		SNV							ENST00000378961	protein_coding	getma.org/?cm=var&var=hg19,20,5905632,A,T&fts=all		Prints_domain:PR00659,Pfam_domain:PF01271,PROSITE_patterns:PS00422,hmmpanther:PTHR10583:SF3,hmmpanther:PTHR10583		E/D		T	medium	2175/2550		getma.org/?cm=msa&ty=f&p=SCG1_HUMAN&rb=26&re=677&var=E657D	deleterious(0)				YES	CHGB,missense_variant,p.Glu657Asp,ENST00000378961,NM_001819.2;CHGB,downstream_gene_variant,,ENST00000455042,;RP5-967N21.2,downstream_gene_variant,,ENST00000400619,;							MODERATE	1971/2034	E657D	SCG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368244		CCDS13092.1			1	
SEH1L	0	LGGM	GRCh37	18	12948225	12948225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	3	.	.	ENST00000399892.2:c.105C>A	p.Ser35Arg	p.S35R	ENST00000399892	NM_001013437.1	35	agC/agA	0	1		UPI000006E3C0	0	getma.org/pdb.php?prot=SEH1_HUMAN&from=7&to=40&var=S35R	ENST00000262124		ENSG00000085415	30379		22	1.055		HGNC	p.S35R		SEH1L		SNV							ENST00000585730	protein_coding	getma.org/?cm=var&var=hg19,18,12948225,C,A&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR11024,hmmpanther:PTHR11024:SF3,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320		S/R		A	low	232/3494		getma.org/?cm=msa&ty=f&p=SEH1_HUMAN&rb=7&re=40&var=S35R	tolerated(0.33)	K7EPZ5_HUMAN				SEH1L,missense_variant,p.Ser35Arg,ENST00000262124,NM_031216.3;SEH1L,missense_variant,p.Ser35Arg,ENST00000399892,NM_001013437.1;SEH1L,missense_variant,p.Ser35Arg,ENST00000587761,;SEH1L,missense_variant,p.Ser9Arg,ENST00000592170,;SEH1L,missense_variant,p.Ser35Arg,ENST00000589446,;SEH1L,missense_variant,p.Ser35Arg,ENST00000585730,;SEH1L,upstream_gene_variant,,ENST00000588251,;							MODERATE	105/1083	S35R	SEH1_HUMAN			Transcript		benign(0.31)	.	ENSP00000262124		CCDS45832.1			1	
ADSL	0	LGGM	GRCh37	22	40745991	40745991	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	3	.	.	ENST00000216194.7:c.309A>G	p.Ala103=	p.A103=	ENST00000216194	NM_000026.2	103	gcA/gcG	0	1	1	UPI0000132AC7	0		ENST00000216194		ENSG00000239900	291		47			HGNC	p.A103A		ADSL		SNV			1				ENST00000342312	protein_coding			hmmpanther:PTHR11444,hmmpanther:PTHR11444:SF2,TIGRFAM_domain:TIGR00928,Pfam_domain:PF00206,Gene3D:1.10.275.10,Superfamily_domains:SSF48557		A		G		365/1993				B4DUM2_HUMAN			YES	ADSL,synonymous_variant,p.=,ENST00000216194,NM_000026.2;ADSL,synonymous_variant,p.=,ENST00000342312,NM_001123378.1;ADSL,synonymous_variant,p.=,ENST00000454266,;ADSL,non_coding_transcript_exon_variant,,ENST00000466863,;ADSL,non_coding_transcript_exon_variant,,ENST00000477111,;							LOW	309/1455		PUR8_HUMAN			Transcript			.	ENSP00000216194		CCDS14001.1			1	
NR6A1	0	LGGM	GRCh37	9	127300570	127300570	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	3	.	.	ENST00000487099.2:c.625G>T	p.Ala209Ser	p.A209S	ENST00000487099	NM_001489.4	209	Gcc/Tcc	0	1	1	UPI0000130484	0	NA	ENST00000487099		ENSG00000148200	7985		24	0.35		HGNC	p.A208S		NR6A1		SNV							ENST00000344523	protein_coding	getma.org/?cm=var&var=hg19,9,127300570,C,A&fts=all		hmmpanther:PTHR24080		A/S		A	neutral	783/7031		getma.org/?cm=msa&ty=f&p=NR6A1_HUMAN&rb=128&re=273&var=A209S	tolerated(0.77)	F1D8S0_HUMAN			YES	NR6A1,missense_variant,p.Ala209Ser,ENST00000487099,NM_001489.4,NM_033334.3,NM_001278546.1;NR6A1,missense_variant,p.Ala204Ser,ENST00000416460,;NR6A1,missense_variant,p.Ala205Ser,ENST00000373584,;NR6A1,missense_variant,p.Ala208Ser,ENST00000344523,;NR6A1,missense_variant,p.Ala167Ser,ENST00000475178,;							MODERATE	625/1443	A209S	NR6A1_HUMAN			Transcript		benign(0.038)	.	ENSP00000420267		CCDS35137.1			1	
CTNND2	0	LGGM	GRCh37	5	11098836	11098836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	3	.	.	ENST00000304623.8:c.2488G>T	p.Asp830Tyr	p.D830Y	ENST00000304623	NM_001332.2	830	Gac/Tac	0	1	1	UPI000013E9AB	0	NA	ENST00000304623		ENSG00000169862	2516		27	1.5		HGNC	p.D397Y		CTNND2		SNV			1				ENST00000458100	protein_coding	getma.org/?cm=var&var=hg19,5,11098836,C,A&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF9,Superfamily_domains:SSF48371		D/Y		A	low	2678/5481		getma.org/?cm=msa&ty=f&p=CTND2_HUMAN&rb=667&re=833&var=D830Y	deleterious(0.01)	E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN			YES	CTNND2,missense_variant,p.Asp830Tyr,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,missense_variant,p.Asp739Tyr,ENST00000511377,;CTNND2,missense_variant,p.Asp397Tyr,ENST00000458100,;CTNND2,missense_variant,p.Asp493Tyr,ENST00000503622,;CTNND2,intron_variant,,ENST00000359640,;CTNND2,non_coding_transcript_exon_variant,,ENST00000495388,;CTNND2,missense_variant,p.Asp584Tyr,ENST00000513588,;CTNND2,3_prime_UTR_variant,,ENST00000504499,;							MODERATE	2488/3678	D830Y	CTND2_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000307134		CCDS3881.1			1	
PVRL4	0	LGGM	GRCh37	1	161042562	161042562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	35	3	.	.	ENST00000368012.3:c.1422G>T	p.Gln474His	p.Q474H	ENST00000368012	NM_030916.2	474	caG/caT	0	1	1	UPI000006F072	0	NA	ENST00000368012		ENSG00000143217	19688		38	0		HGNC	p.Q183H		PVRL4		SNV			1				ENST00000453926	protein_coding	getma.org/?cm=var&var=hg19,1,161042562,C,A&fts=all		hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF11		Q/H		A	neutral	1725/3502		getma.org/?cm=msa&ty=f&p=PVRL4_HUMAN&rb=318&re=510&var=Q474H	tolerated(0.11)	K4PZ75_HUMAN			YES	PVRL4,missense_variant,p.Gln474His,ENST00000368012,NM_030916.2;PVRL4,missense_variant,p.Gln183His,ENST00000453926,;ARHGAP30,upstream_gene_variant,,ENST00000368013,NM_181720.2,NM_001025598.1;ARHGAP30,upstream_gene_variant,,ENST00000368015,NM_001287602.1;ARHGAP30,upstream_gene_variant,,ENST00000368016,;PVRL4,non_coding_transcript_exon_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;							MODERATE	1422/1533	Q474H	PVRL4_HUMAN			Transcript		benign(0.077)	.	ENSP00000356991		CCDS1216.1			1	
THBS1	0	LGGM	GRCh37	15	39874716	39874716	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	3	.	.	ENST00000260356.5:c.390C>A	p.Leu130=	p.L130=	ENST00000260356	NM_003246.2	130	ctC/ctA	0	1	1	UPI00001FE219	0		ENST00000260356		ENSG00000137801	11785		20			HGNC	p.L130L		THBS1		SNV							ENST00000260356	protein_coding			hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,SMART_domains:SM00210,Superfamily_domains:SSF49899		L		A		555/7775				Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,synonymous_variant,p.=,ENST00000260356,NM_003246.2;THBS1,downstream_gene_variant,,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000478845,;THBS1,upstream_gene_variant,,ENST00000497720,;THBS1,upstream_gene_variant,,ENST00000466755,;							LOW	390/3513		TSP1_HUMAN			Transcript			.	ENSP00000260356		CCDS32194.1			1	
KIDINS220	0	LGGM	GRCh37	2	8910811	8910811	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	3	.	.	ENST00000256707.3:c.3000C>A	p.Thr1000=	p.T1000=	ENST00000256707	NM_020738.2	1000	acC/acA	0	1	1	UPI0000208E08	0		ENST00000256707		ENSG00000134313	29508		47			HGNC	p.T9T		KIDINS220		SNV							ENST00000459813	protein_coding			hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5		T		T		3182/7361				F8WAY8_HUMAN			YES	KIDINS220,synonymous_variant,p.=,ENST00000256707,NM_020738.2;KIDINS220,synonymous_variant,p.=,ENST00000427284,;KIDINS220,synonymous_variant,p.=,ENST00000473731,;KIDINS220,synonymous_variant,p.=,ENST00000418530,;KIDINS220,synonymous_variant,p.=,ENST00000489024,;KIDINS220,synonymous_variant,p.=,ENST00000319688,;KIDINS220,synonymous_variant,p.=,ENST00000496383,;KIDINS220,synonymous_variant,p.=,ENST00000459813,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;							LOW	3000/5316		KDIS_HUMAN			Transcript			.	ENSP00000256707		CCDS42650.1			1	
CPT1A	0	LGGM	GRCh37	11	68560871	68560871	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	22	4	.	.	ENST00000265641.5:c.880-1G>A		p.X294_splice	ENST00000265641	NM_001876.3			0	1	1	UPI000013D658	0		ENST00000265641		ENSG00000110090	2328		26			HGNC	-		CPT1A		SNV			1				ENST00000540367	protein_coding							T		-/5232				Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN			YES	CPT1A,splice_acceptor_variant,,ENST00000265641,NM_001876.3;CPT1A,splice_acceptor_variant,,ENST00000376618,NM_001031847.2;CPT1A,splice_acceptor_variant,,ENST00000540367,;CPT1A,splice_acceptor_variant,,ENST00000539743,;CPT1A,splice_acceptor_variant,,ENST00000538994,;							HIGH	880/2322		CPT1A_HUMAN			Transcript			.	ENSP00000265641		CCDS8185.1			1	
HFE	0	LGGM	GRCh37	6	26091097	26091097	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	53	4	.	.	ENST00000357618.5:c.105G>T	p.Met35Ile	p.M35I	ENST00000357618	NM_000410.3	35	atG/atT	0	1	1	UPI0000001700	0	getma.org/pdb.php?prot=HFE_HUMAN&from=26&to=202&var=M35I	ENST00000357618		ENSG00000010704	4886		57	0.7		HGNC	p.M35I		HFE		SNV			1				ENST00000461397	protein_coding	getma.org/?cm=var&var=hg19,6,26091097,G,T&fts=all		Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF139,Superfamily_domains:SSF54452		M/I		T	neutral	227/5286		getma.org/?cm=msa&ty=f&p=HFE_HUMAN&rb=26&re=202&var=M35I	tolerated(0.07)	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			YES	HFE,missense_variant,p.Met35Ile,ENST00000357618,NM_000410.3,NM_139006.2;HFE,missense_variant,p.Met35Ile,ENST00000317896,NM_139004.2,NM_139003.2;HFE,missense_variant,p.Met35Ile,ENST00000309234,;HFE,missense_variant,p.Met35Ile,ENST00000470149,;HFE,missense_variant,p.Met35Ile,ENST00000461397,;HFE,missense_variant,p.Met35Ile,ENST00000336625,;HFE,intron_variant,,ENST00000349999,NM_139008.2,NM_139007.2;HFE,intron_variant,,ENST00000397022,NM_139009.2;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,;							MODERATE	105/1047	M35I	HFE_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000417404		CCDS4578.1			1	
FCER1G	0	LGGM	GRCh37	1	161188674	161188674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	4	.	.	ENST00000289902.1:c.202C>A	p.Leu68Met	p.L68M	ENST00000289902	NM_004106.1	68	Ctg/Atg	0	1	1	UPI0000052756	0		ENST00000289902		ENSG00000158869	3611		44			HGNC	p.L68M		FCER1G		SNV							ENST00000289902	protein_coding			Pfam_domain:PF02189,PROSITE_profiles:PS51055,hmmpanther:PTHR16803,SMART_domains:SM00077		L/M		A		227/591			deleterious(0)				YES	FCER1G,missense_variant,p.Leu68Met,ENST00000289902,NM_004106.1;FCER1G,intron_variant,,ENST00000367992,;NDUFS2,downstream_gene_variant,,ENST00000392179,NM_001166159.1;NDUFS2,downstream_gene_variant,,ENST00000367993,NM_004550.4;APOA2,downstream_gene_variant,,ENST00000464492,;APOA2,downstream_gene_variant,,ENST00000367990,NM_001643.1;APOA2,downstream_gene_variant,,ENST00000463273,;APOA2,downstream_gene_variant,,ENST00000468465,;APOA2,downstream_gene_variant,,ENST00000470459,;APOA2,downstream_gene_variant,,ENST00000463812,;APOA2,downstream_gene_variant,,ENST00000469730,;APOA2,downstream_gene_variant,,ENST00000491350,;AL590714.1,upstream_gene_variant,,ENST00000594609,;FCER1G,non_coding_transcript_exon_variant,,ENST00000490414,;NDUFS2,downstream_gene_variant,,ENST00000465923,;NDUFS2,downstream_gene_variant,,ENST00000483804,;NDUFS2,downstream_gene_variant,,ENST00000493849,;NDUFS2,downstream_gene_variant,,ENST00000468828,;NDUFS2,downstream_gene_variant,,ENST00000492153,;APOA2,downstream_gene_variant,,ENST00000481413,;APOA2,downstream_gene_variant,,ENST00000481511,;							MODERATE	202/261		FCERG_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000289902		CCDS1225.1			1	
ERLEC1	0	LGGM	GRCh37	2	54014400	54014400	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	4	.	.	ENST00000185150.4:c.53T>C	p.Leu18Ser	p.L18S	ENST00000185150	NM_015701.4	18	tTa/tCa	0	1	1	UPI00000373C1	0		ENST00000185150		ENSG00000068912	25222		24			HGNC	p.L18S		ERLEC1		SNV							ENST00000405123	protein_coding			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/S		C		184/2433			deleterious(0.03)				YES	ERLEC1,missense_variant,p.Leu18Ser,ENST00000185150,NM_015701.4;ERLEC1,missense_variant,p.Leu18Ser,ENST00000378239,NM_001127398.2;ERLEC1,missense_variant,p.Leu18Ser,ENST00000405123,NM_001127397.2;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;GPR75-ASB3,upstream_gene_variant,,ENST00000263634,NM_016115.4;GPR75-ASB3,upstream_gene_variant,,ENST00000406687,NM_001201965.1;GPR75-ASB3,upstream_gene_variant,,ENST00000394717,NM_145863.2;ERLEC1,non_coding_transcript_exon_variant,,ENST00000494373,;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;GPR75-ASB3,intron_variant,,ENST00000414369,;GPR75-ASB3,upstream_gene_variant,,ENST00000470916,;							MODERATE	53/1452		ERLEC_HUMAN			Transcript		unknown(0)	.	ENSP00000185150		CCDS1848.1			1	
TCOF1	0	LGGM	GRCh37	5	149751596	149751596	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	37	4	.	.	ENST00000504761.2:c.667G>A	p.Val223Ile	p.V223I	ENST00000504761		223	Gtc/Atc	0	1		UPI000020CF90	0	NA	ENST00000377797		ENSG00000070814	11654		41	0.805		HGNC	p.V223I		TCOF1		SNV			1				ENST00000394269	protein_coding	getma.org/?cm=var&var=hg19,5,149751596,G,A&fts=all		hmmpanther:PTHR20787		V/I		A	low	775/5098		getma.org/?cm=msa&ty=f&p=TCOF_HUMAN&rb=201&re=248&var=V223I		Q9UFD4_HUMAN				TCOF1,missense_variant,p.Val223Ile,ENST00000451292,;TCOF1,missense_variant,p.Val223Ile,ENST00000377797,NM_001135243.1;TCOF1,missense_variant,p.Val223Ile,ENST00000513346,;TCOF1,missense_variant,p.Val223Ile,ENST00000439160,NM_001135244.1,NM_001195141.1;TCOF1,missense_variant,p.Val223Ile,ENST00000504761,;TCOF1,missense_variant,p.Val223Ile,ENST00000427724,;TCOF1,missense_variant,p.Val223Ile,ENST00000394269,NM_001008657.2;TCOF1,intron_variant,,ENST00000323668,NM_000356.3;TCOF1,intron_variant,,ENST00000445265,NM_001135245.1;TCOF1,intron_variant,,ENST00000515516,;TCOF1,non_coding_transcript_exon_variant,,ENST00000515035,;TCOF1,upstream_gene_variant,,ENST00000514442,;							MODERATE	667/4470	V223I	TCOF_HUMAN			Transcript		benign(0.437)	.	ENSP00000367028					1	
SAMHD1	0	LGGM	GRCh37	20	35579900	35579900	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	58	4	.	.	ENST00000262878.4:c.147G>T	p.Gln49His	p.Q49H	ENST00000262878	NM_015474.3	49	caG/caT	0	1	1	UPI0000035DA0	0	getma.org/pdb.php?prot=SAMH1_HUMAN&from=42&to=108&var=Q49H	ENST00000262878		ENSG00000101347	15925		62	2.31		HGNC	p.Q49H		SAMHD1		SNV			1				ENST00000262878	protein_coding	getma.org/?cm=var&var=hg19,20,35579900,C,A&fts=all		PROSITE_profiles:PS50105,hmmpanther:PTHR11373:SF4,hmmpanther:PTHR11373,Pfam_domain:PF07647,Gene3D:1.10.150.50,SMART_domains:SM00454,Superfamily_domains:SSF47769		Q/H		A	medium	347/4784		getma.org/?cm=msa&ty=f&p=SAMH1_HUMAN&rb=42&re=108&var=Q49H	deleterious(0.01)	A6NDZ3_HUMAN			YES	SAMHD1,missense_variant,p.Gln49His,ENST00000262878,NM_015474.3;SAMHD1,5_prime_UTR_variant,,ENST00000373694,;							MODERATE	147/1881	Q49H	SAMH1_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000262878		CCDS13288.1			1	
JAG1	0	LGGM	GRCh37	20	10621865	10621865	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	68	4	.	.	ENST00000254958.5:c.2944G>T	p.Glu982Ter	p.E982*	ENST00000254958	NM_000214.2	982	Gaa/Taa	0	1	1	UPI00000498B5	0	NA	ENST00000254958		ENSG00000101384	6188		72	0		HGNC	p.E982X		JAG1		SNV			1				ENST00000254958	protein_coding	getma.org/?cm=var&var=hg19,20,10621865,C,A&fts=all		Prints_domain:PR02059,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF212		E/*		A	NA	3460/5987		NA		B7U6M8_HUMAN,B4DYR1_HUMAN			YES	JAG1,stop_gained,p.Glu982Ter,ENST00000254958,NM_000214.2;JAG1,stop_gained,p.Glu823Ter,ENST00000423891,;JAG1,downstream_gene_variant,,ENST00000488480,;SLX4IP,downstream_gene_variant,,ENST00000488816,;							HIGH	2944/3657	E982*	JAG1_HUMAN			Transcript			.	ENSP00000254958		CCDS13112.1			1	
PLXNA4	0	LGGM	GRCh37	7	132193349	132193349	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	4	.	.	ENST00000359827.3:c.104A>T	p.Gln35Leu	p.Q35L	ENST00000359827		35	cAg/cTg	0	1		UPI000004E55B	0	NA	ENST00000321063		ENSG00000221866	9102		20	0.69		HGNC	p.Q35L		PLXNA4		SNV							ENST00000378539	protein_coding	getma.org/?cm=var&var=hg19,7,132193349,T,A&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625		Q/L		A	neutral	333/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=24&re=507&var=Q35L	tolerated(0.26)					PLXNA4,missense_variant,p.Gln35Leu,ENST00000359827,;PLXNA4,missense_variant,p.Gln35Leu,ENST00000321063,NM_020911.1;PLXNA4,missense_variant,p.Gln35Leu,ENST00000423507,NM_001105543.1;PLXNA4,missense_variant,p.Gln35Leu,ENST00000378539,NM_181775.3;							MODERATE	104/5685	Q35L	PLXA4_HUMAN			Transcript		benign(0)	.	ENSP00000323194		CCDS43646.1			1	
TENM4	0	LGGM	GRCh37	11	78574014	78574014	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	42	4	.	.	ENST00000278550.7:c.1248C>A	p.Thr416=	p.T416=	ENST00000278550	NM_001098816.2	416	acC/acA	0	1	1	UPI0000DD8112	0		ENST00000278550		ENSG00000149256	29945		46			HGNC	p.T416T		TENM4		SNV							ENST00000278550	protein_coding			hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		T		T		1711/14000				G3CAT1_HUMAN			YES	TENM4,synonymous_variant,p.=,ENST00000278550,NM_001098816.2;							LOW	1248/8310		TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
PARVG	0	LGGM	GRCh37	22	44585067	44585067	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	14	4	.	.	ENST00000444313.3:c.321A>T	p.Thr107=	p.T107=	ENST00000444313	NM_022141.6	107	acA/acT	0	1		UPI000004470F	0		ENST00000422871		ENSG00000138964	14654		18			HGNC	p.T107T		PARVG		SNV							ENST00000444313	protein_coding			PROSITE_profiles:PS50021,hmmpanther:PTHR12114,hmmpanther:PTHR12114:SF1,Pfam_domain:PF00307,Gene3D:1.10.418.10,Superfamily_domains:SSF47576		T		T		745/2148				B0QYM9_HUMAN				PARVG,synonymous_variant,p.=,ENST00000444313,NM_022141.6;PARVG,synonymous_variant,p.=,ENST00000422871,NM_001137605.2;PARVG,synonymous_variant,p.=,ENST00000415224,;PARVG,downstream_gene_variant,,ENST00000466375,;PARVG,downstream_gene_variant,,ENST00000453888,;PARVG,synonymous_variant,p.=,ENST00000356909,;PARVG,non_coding_transcript_exon_variant,,ENST00000468564,;PARVG,non_coding_transcript_exon_variant,,ENST00000475485,;PARVG,downstream_gene_variant,,ENST00000471836,;							LOW	321/996		PARVG_HUMAN			Transcript			.	ENSP00000391453		CCDS14057.1			1	
SPTBN5	0	LGGM	GRCh37	15	42167216	42167216	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	10	4	.	.	ENST00000320955.6:c.4326A>T	p.Leu1442=	p.L1442=	ENST00000320955	NM_016642.3	1442	ctA/ctT	0	1	1	UPI0000E59BE4	0		ENST00000320955		ENSG00000137877	15680		14			HGNC	p.L1442L		SPTBN5		SNV							ENST00000320955	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Gene3D:1.20.58.60,SMART_domains:SM00150		L		A		4554/11722							YES	SPTBN5,synonymous_variant,p.=,ENST00000320955,NM_016642.3;							LOW	4326/11025		SPTN5_HUMAN			Transcript			.	ENSP00000317790		CCDS61599.1			1	
EPS8L1	0	LGGM	GRCh37	19	55591139	55591139	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	8	4	.	.	ENST00000201647.6:c.199A>T	p.Ser67Cys	p.S67C	ENST00000201647	NM_133180.2	67	Agc/Tgc	0	1	1	UPI000013C630	0	getma.org/pdb.php?prot=ES8L1_HUMAN&from=35&to=165&var=S67C	ENST00000201647		ENSG00000131037	21295		12	1.79		HGNC	p.S3C		EPS8L1		SNV							ENST00000540810	protein_coding	getma.org/?cm=var&var=hg19,19,55591139,A,T&fts=all		hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19,Pfam_domain:PF08416,SMART_domains:SM00462,Superfamily_domains:SSF50729		S/C		T	low	255/2536		getma.org/?cm=msa&ty=f&p=ES8L1_HUMAN&rb=35&re=165&var=S67C	deleterious(0)	B4DKV7_HUMAN			YES	EPS8L1,missense_variant,p.Ser67Cys,ENST00000201647,NM_133180.2;EPS8L1,missense_variant,p.Ser3Cys,ENST00000540810,;EPS8L1,missense_variant,p.Ser49Cys,ENST00000586329,;EPS8L1,upstream_gene_variant,,ENST00000245618,NM_017729.3;EPS8L1,upstream_gene_variant,,ENST00000588359,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000585347,;EPS8L1,missense_variant,p.Ser29Cys,ENST00000587786,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000591219,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592318,;EPS8L1,upstream_gene_variant,,ENST00000592102,;EPS8L1,upstream_gene_variant,,ENST00000589362,;EPS8L1,upstream_gene_variant,,ENST00000592284,;EPS8L1,upstream_gene_variant,,ENST00000590232,;EPS8L1,upstream_gene_variant,,ENST00000590610,;EPS8L1,upstream_gene_variant,,ENST00000592044,;							MODERATE	199/2172	S67C	ES8L1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000201647		CCDS12914.1			1	
UBR4	0	LGGM	GRCh37	1	19525113	19525113	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	70	4	.	.	ENST00000375254.3:c.570G>T	p.Gln190His	p.Q190H	ENST00000375254	NM_020765.2	190	caG/caT	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		74	0.69		HGNC	p.Q190H		UBR4		SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19525113,C,A&fts=all		hmmpanther:PTHR21725		Q/H		A	neutral	598/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=Q190H		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Gln190His,ENST00000375267,;UBR4,missense_variant,p.Gln190His,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Gln190His,ENST00000375217,;UBR4,missense_variant,p.Gln190His,ENST00000375226,;							MODERATE	570/15552	Q190H	UBR4_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000364403		CCDS189.1			1	
SLCO2A1	0	LGGM	GRCh37	3	133661465	133661465	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	4	.	.	ENST00000310926.4:c.1609T>A	p.Tyr537Asn	p.Y537N	ENST00000310926	NM_005630.2	537	Tac/Aac	0	1	1	UPI000013F0AD	0	NA	ENST00000310926		ENSG00000174640	10955		20	2.995		HGNC	p.Y537N		SLCO2A1		SNV			1				ENST00000310926	protein_coding	getma.org/?cm=var&var=hg19,3,133661465,A,T&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS50850		Y/N		T	medium	1883/4223		getma.org/?cm=msa&ty=f&p=SO2A1_HUMAN&rb=31&re=603&var=Y537N	deleterious(0)	Q4LEJ9_HUMAN			YES	SLCO2A1,missense_variant,p.Tyr537Asn,ENST00000310926,NM_005630.2;SLCO2A1,missense_variant,p.Tyr461Asn,ENST00000493729,;SLCO2A1,3_prime_UTR_variant,,ENST00000481359,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000462770,;							MODERATE	1609/1932	Y537N	SO2A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311291		CCDS3084.1			1	
EYA3	0	LGGM	GRCh37	1	28303880	28303880	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	68	4	.	.	ENST00000373871.3:c.1641+1005G>T		*547*	ENST00000373871				0	1	1	UPI000015FFE5	0		ENST00000373871		ENSG00000158161	3521		72			HGNC	p.M508I		EYA3		SNV							ENST00000373863	protein_coding							A		-/6085				B4DNZ7_HUMAN			YES	EYA3,missense_variant,p.Met508Ile,ENST00000373863,NM_001282560.1;EYA3,intron_variant,,ENST00000373871,;EYA3,intron_variant,,ENST00000436342,NM_001990.3;EYA3,intron_variant,,ENST00000373864,;EYA3,intron_variant,,ENST00000545175,NM_001282562.1;EYA3,intron_variant,,ENST00000540618,NM_001282561.1;							MODIFIER	-/1722		EYA3_HUMAN			Transcript			.	ENSP00000362978		CCDS316.1			1	
EFR3B	0	LGGM	GRCh37	2	25374891	25374891	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	8	5	.	.	ENST00000403714.3:c.2298+2T>A		p.X766_splice	ENST00000403714	NM_014971.1			0	1	1	UPI0000208069	0		ENST00000403714		ENSG00000084710	29155		13			HGNC	-		EFR3B		SNV							ENST00000403714	protein_coding							A		-/3671				E7ESK9_HUMAN			YES	EFR3B,splice_donor_variant,,ENST00000402191,;EFR3B,splice_donor_variant,,ENST00000403714,NM_014971.1;EFR3B,splice_donor_variant,,ENST00000405108,;EFR3B,splice_donor_variant,,ENST00000264719,;EFR3B,downstream_gene_variant,,ENST00000401432,;							HIGH	2298/2454		EFR3B_HUMAN			Transcript			.	ENSP00000384081		CCDS46231.1			1	
SYNPO2L	0	LGGM	GRCh37	10	75410716	75410716	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	5	.	.	ENST00000394810.2:c.773-2079A>C		*258*	ENST00000394810	NM_001114133.1			0	1	1	UPI000042704D	0	NA	ENST00000394810		ENSG00000166317	23532		29	0		HGNC	p.Y17S		SYNPO2L		SNV							ENST00000372873	protein_coding	getma.org/?cm=var&var=hg19,10,75410716,T,G&fts=all						G	neutral	-/4921		getma.org/?cm=msa&ty=f&p=A3KMG7_HUMAN&rb=1&re=151&var=Y17S		U3KQD0_HUMAN			YES	SYNPO2L,missense_variant,p.Tyr17Ser,ENST00000372873,NM_024875.3;SYNPO2L,intron_variant,,ENST00000394810,NM_001114133.1;SYNPO2L,downstream_gene_variant,,ENST00000606523,;RP11-464F9.21,upstream_gene_variant,,ENST00000606726,;RP11-464F9.21,upstream_gene_variant,,ENST00000607450,;							MODIFIER	-/2934	Y17S	SYP2L_HUMAN			Transcript			.	ENSP00000378289		CCDS44438.1			1	
KCND3	0	LGGM	GRCh37	1	112323379	112323379	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	4	5	.	.	ENST00000315987.2:c.1304C>T	p.Thr435Ile	p.T435I	ENST00000315987	NM_004980.4	435	aCa/aTa	0	1	1	UPI000003050A	0	NA	ENST00000315987		ENSG00000171385	6239		9	-0.345		HGNC	p.T435I		KCND3		SNV			1				ENST00000302127	protein_coding	getma.org/?cm=var&var=hg19,1,112323379,G,A&fts=all		Prints_domain:PR01497,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF17		T/I		A	neutral	1784/2716		getma.org/?cm=msa&ty=f&p=KCND3_HUMAN&rb=403&re=441&var=T435I	deleterious(0.05)				YES	KCND3,missense_variant,p.Thr435Ile,ENST00000369697,;KCND3,missense_variant,p.Thr435Ile,ENST00000315987,NM_004980.4;KCND3,missense_variant,p.Thr435Ile,ENST00000302127,NM_172198.2;							MODERATE	1304/1968	T435I	KCND3_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000319591		CCDS843.1			1	
POLR2F	0	LGGM	GRCh37	22	38421640	38421640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	5	.	.	ENST00000405557.1:c.348C>A	p.His116Gln	p.H116Q	ENST00000405557		116	caC/caA	0	1	1	UPI0000E06F0B	0		ENST00000405557		ENSG00000100142	9193		22			HGNC	p.H116Q		POLR2F		SNV							ENST00000405557	protein_coding					H/Q		A		425/560			deleterious_low_confidence(0)	U3KQS8_HUMAN,B0QYL8_HUMAN				POLR2F,missense_variant,p.His116Gln,ENST00000405557,;POLR2F,intron_variant,,ENST00000427034,;POLR2F,intron_variant,,ENST00000333418,;POLR2F,intron_variant,,ENST00000407936,;							MODERATE	348/381					Transcript		benign(0)	.	ENSP00000384112					1	
PRKD2	0	LGGM	GRCh37	19	47207871	47207871	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	13	6	.	.	ENST00000433867.1:c.547A>T	p.Ser183Cys	p.S183C	ENST00000433867	NM_001079881.1	183	Agc/Tgc	0	1		UPI000013E03A	0	getma.org/pdb.php?prot=KPCD2_HUMAN&from=139&to=191&var=S183C	ENST00000291281		ENSG00000105287	17293		19	1.37		HGNC	p.S183C		PRKD2		SNV							ENST00000595515	protein_coding	getma.org/?cm=var&var=hg19,19,47207871,T,A&fts=all		PROSITE_profiles:PS50081,hmmpanther:PTHR22968,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000552,SMART_domains:SM00109,Superfamily_domains:SSF57889		S/C		A	low	773/3070		getma.org/?cm=msa&ty=f&p=KPCD2_HUMAN&rb=139&re=191&var=S183C	deleterious(0)	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN				PRKD2,missense_variant,p.Ser183Cys,ENST00000433867,NM_001079881.1,NM_016457.4,NM_001079880.1;PRKD2,missense_variant,p.Ser183Cys,ENST00000291281,;PRKD2,missense_variant,p.Ser183Cys,ENST00000595515,;PRKD2,missense_variant,p.Ser26Cys,ENST00000600194,NM_001079882.1;PRKD2,missense_variant,p.Ser26Cys,ENST00000601806,;PRKD2,missense_variant,p.Ser26Cys,ENST00000595132,;PRKD2,intron_variant,,ENST00000601605,;PRKD2,downstream_gene_variant,,ENST00000598633,;MIR320E,downstream_gene_variant,,ENST00000390179,;PRKD2,3_prime_UTR_variant,,ENST00000597641,;							MODERATE	547/2637	S183C	KPCD2_HUMAN			Transcript		benign(0.09)	.	ENSP00000291281		CCDS12689.1			1	
CTNND1	0	LGGM	GRCh37	11	57564249	57564249	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	85	6	.	.	ENST00000399050.4:c.741C>A	p.Gly247=	p.G247=	ENST00000399050	NM_001085458.1	247	ggC/ggA	0	1	1	UPI000012860B	0		ENST00000399050		ENSG00000198561	2515		91			HGNC	p.G146G		CTNND1		SNV							ENST00000530094	protein_coding			hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372		G		A		1277/6313				E9PKY0_HUMAN,E9PKL1_HUMAN			YES	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.=,ENST00000529526,NM_001206891.1;CTNND1,synonymous_variant,p.=,ENST00000532649,NM_001206889.1;CTNND1,synonymous_variant,p.=,ENST00000534579,;CTNND1,synonymous_variant,p.=,ENST00000428599,NM_001085462.1;CTNND1,synonymous_variant,p.=,ENST00000532844,NM_001206883.1;CTNND1,synonymous_variant,p.=,ENST00000526357,NM_001206886.1;CTNND1,synonymous_variant,p.=,ENST00000529873,NM_001206887.1;CTNND1,synonymous_variant,p.=,ENST00000530748,NM_001206884.1;CTNND1,synonymous_variant,p.=,ENST00000528621,NM_001206888.1;CTNND1,synonymous_variant,p.=,ENST00000415361,NM_001085463.1;CTNND1,synonymous_variant,p.=,ENST00000530094,NM_001085464.1;CTNND1,synonymous_variant,p.=,ENST00000426142,NM_001085467.1;CTNND1,synonymous_variant,p.=,ENST00000532787,NM_001085465.1;CTNND1,synonymous_variant,p.=,ENST00000532463,NM_001206890.1;CTNND1,synonymous_variant,p.=,ENST00000528232,NM_001085466.1;CTNND1,synonymous_variant,p.=,ENST00000529986,NM_001085468.1;CTNND1,synonymous_variant,p.=,ENST00000532245,NM_001085469.1;CTNND1,synonymous_variant,p.=,ENST00000399039,;CTNND1,synonymous_variant,p.=,ENST00000529919,;CTNND1,synonymous_variant,p.=,ENST00000526938,;CTNND1,synonymous_variant,p.=,ENST00000534647,;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,,ENST00000530068,;RP11-691N7.6,downstream_gene_variant,,ENST00000531074,;							LOW	741/2907		CTND1_HUMAN			Transcript			.	ENSP00000382004		CCDS44604.1			1	
BMP10	0	LGGM	GRCh37	2	69093053	69093053	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	6	.	.	ENST00000295379.1:c.985T>A	p.Tyr329Asn	p.Y329N	ENST00000295379	NM_014482.1	329	Tac/Aac	0	1	1	UPI0000126A11	0	getma.org/pdb.php?prot=BMP10_HUMAN&from=320&to=424&var=Y329N	ENST00000295379		ENSG00000163217	20869		27	2.235		HGNC	p.Y329N		BMP10		SNV							ENST00000295379	protein_coding	getma.org/?cm=var&var=hg19,2,69093053,A,T&fts=all		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF39,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501,Prints_domain:PR00669		Y/N		T	medium	1144/1584		getma.org/?cm=msa&ty=f&p=BMP10_HUMAN&rb=320&re=424&var=Y329N	deleterious(0.03)				YES	BMP10,missense_variant,p.Tyr329Asn,ENST00000295379,NM_014482.1;							MODERATE	985/1275	Y329N	BMP10_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000295379		CCDS1890.1			1	
OR52E2	0	LGGM	GRCh37	11	5080584	5080584	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	11	6	.	.	ENST00000321522.2:c.274A>T	p.Arg92Ter	p.R92*	ENST00000321522	NM_001005164.2	92	Aga/Tga	0	1	1	UPI0000046AE3	0	NA	ENST00000321522		ENSG00000176787	14769		17	0		HGNC	p.R92X		OR52E2		SNV							ENST00000321522	protein_coding	getma.org/?cm=var&var=hg19,11,5080584,T,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF118,PROSITE_profiles:PS50262		R/*		A	NA	274/978		NA					YES	OR52E2,stop_gained,p.Arg92Ter,ENST00000321522,NM_001005164.2;							HIGH	274/978	R92*	O52E2_HUMAN			Transcript			.	ENSP00000322088		CCDS31371.1			1	
C1orf141	0	LGGM	GRCh37	1	67561095	67561095	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	6	.	.	ENST00000371007.2:c.426T>G	p.Ser142=	p.S142=	ENST00000371007		142	tcT/tcG	0	1		UPI0000470AFA	0		ENST00000371006		ENSG00000203963	32044		23			HGNC	p.S142S		C1orf141		SNV							ENST00000371006	protein_coding			Pfam_domain:PF15078		S		C		447/2053								C1orf141,synonymous_variant,p.=,ENST00000371007,;C1orf141,synonymous_variant,p.=,ENST00000371006,;C1orf141,synonymous_variant,p.=,ENST00000544837,NM_001276351.1;C1orf141,synonymous_variant,p.=,ENST00000448166,;C1orf141,downstream_gene_variant,,ENST00000603691,;C1orf141,non_coding_transcript_exon_variant,,ENST00000371004,;							LOW	426/1203		CA141_HUMAN			Transcript			.	ENSP00000360045		CCDS30745.1			1	
HMGXB4	0	LGGM	GRCh37	22	35659834	35659834	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	6	.	.	ENST00000216106.5:c.226A>C	p.Arg76=	p.R76=	ENST00000216106	NM_001003681.2	76	Agg/Cgg	0	1	1	UPI00003765B4	0		ENST00000216106		ENSG00000100281	5003		46			HGNC	p.R76R		HMGXB4		SNV							ENST00000418170	protein_coding			hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169		R		C		354/4047				Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN			YES	HMGXB4,synonymous_variant,p.=,ENST00000216106,NM_001003681.2;HMGXB4,5_prime_UTR_variant,,ENST00000444518,;HMGXB4,5_prime_UTR_variant,,ENST00000455359,;HMGXB4,5_prime_UTR_variant,,ENST00000420166,;HMGXB4,synonymous_variant,p.=,ENST00000418170,;HMGXB4,non_coding_transcript_exon_variant,,ENST00000498325,;HMGXB4,non_coding_transcript_exon_variant,,ENST00000464480,;							LOW	226/1806		HMGX4_HUMAN			Transcript			.	ENSP00000216106		CCDS33641.1			1	
SUGCT	0	LGGM	GRCh37	7	40498758	40498758	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	46	6	.	.	ENST00000309930.5:c.968T>C	p.Val323Ala	p.V323A	ENST00000309930	NM_024728.2	323	gTa/gCa	0	1		UPI0000551BCD	0	getma.org/pdb.php?prot=CG010_HUMAN&from=302&to=445&var=V323A	ENST00000335693		ENSG00000175600	16001		52	2.185		HGNC	p.V323A		SUGCT		SNV			1				ENST00000335693	protein_coding	getma.org/?cm=var&var=hg19,7,40498758,T,C&fts=all		Gene3D:3.30.1540.10,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF6,Superfamily_domains:SSF89796		V/A		C	medium	991/1645		getma.org/?cm=msa&ty=f&p=CG010_HUMAN&rb=302&re=445&var=V323A	deleterious(0.01)	Q9Y6U8_HUMAN,Q75MS9_HUMAN,Q75MI5_HUMAN,B4DJF0_HUMAN				SUGCT,missense_variant,p.Val323Ala,ENST00000309930,NM_024728.2,NM_001193311.1;SUGCT,missense_variant,p.Val323Ala,ENST00000335693,NM_001193313.1;SUGCT,missense_variant,p.Val318Ala,ENST00000416370,;SUGCT,missense_variant,p.Val275Ala,ENST00000401647,NM_001193312.1;							MODERATE	968/1338	V323A	SUCHY_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000338475		CCDS55105.1			1	
GTF2IRD2B	0	LGGM	GRCh37	7	74536741	74536741	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	7	.	.	ENST00000312575.7:c.288G>T	p.Gly96=	p.G96=	ENST00000312575	NM_001003795.2	96	ggG/ggT	0	1			0		ENST00000472837		ENSG00000174428	33125		27		4717	HGNC	p.G96G		GTF2IRD2B		SNV							ENST00000312575	retained_intron							T		-/3058								GTF2IRD2B,synonymous_variant,p.=,ENST00000312575,NM_001003795.2;GTF2IRD2B,synonymous_variant,p.=,ENST00000356115,;GTF2IRD2B,synonymous_variant,p.=,ENST00000430511,;GTF2IRD2B,synonymous_variant,p.=,ENST00000423666,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000398546,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000528574,;GTF2IRD2B,upstream_gene_variant,,ENST00000472837,;GTF2IRD2B,upstream_gene_variant,,ENST00000526399,;							MODIFIER						Transcript			.						1	
PLCE1	0	LGGM	GRCh37	10	96005829	96005829	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	4	7	.	.	ENST00000371380.3:c.2547C>T	p.Tyr849=	p.Y849=	ENST00000371380		849	taC/taT	0	1		UPI00001F93EE	0		ENST00000260766		ENSG00000138193	17175	0.000173	11			HGNC	p.Y541Y	rs553609351	PLCE1		SNV			1				ENST00000371385	protein_coding		T:0	hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6,Superfamily_domains:0041591		Y		T		3181/7992				B7ZM61_HUMAN	T:0	T:0.001		PLCE1,synonymous_variant,p.=,ENST00000371380,;PLCE1,synonymous_variant,p.=,ENST00000260766,NM_016341.3;PLCE1,synonymous_variant,p.=,ENST00000371375,;PLCE1,synonymous_variant,p.=,ENST00000371385,NM_001165979.1;	0.000116	T:0.0002					LOW	2547/6909		PLCE1_HUMAN		T:0	Transcript			.	ENSP00000260766	2.48E-05	CCDS41552.1		T:0	1	
LPCAT4	0	LGGM	GRCh37	15	34651842	34651842	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	13	7	.	.	ENST00000314891.6:c.1347A>T	p.Thr449=	p.T449=	ENST00000314891	NM_153613.2	449	acA/acT	0	1	1	UPI00003D0606	0		ENST00000314891		ENSG00000176454	30059		20			HGNC	p.T449T		LPCAT4		SNV							ENST00000314891	protein_coding			hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7		T		A		1525/1975				B7ZM32_HUMAN			YES	LPCAT4,synonymous_variant,p.=,ENST00000314891,NM_153613.2;NUTM1,downstream_gene_variant,,ENST00000537011,NM_001284292.1;NUTM1,downstream_gene_variant,,ENST00000438749,NM_001284293.1;NUTM1,downstream_gene_variant,,ENST00000333756,NM_175741.1;LPCAT4,3_prime_UTR_variant,,ENST00000567507,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000563748,;LPCAT4,downstream_gene_variant,,ENST00000563240,;LPCAT4,downstream_gene_variant,,ENST00000566581,;LPCAT4,downstream_gene_variant,,ENST00000562404,;							LOW	1347/1575		LPCT4_HUMAN			Transcript			.	ENSP00000317300		CCDS32191.1			1	
ERCC2	0	LGGM	GRCh37	19	45867569	45867569	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	9	7	.	.	ENST00000391945.4:c.739A>T	p.Met247Leu	p.M247L	ENST00000391945	NM_000400.3	247	Atg/Ttg	0	1	1	UPI0000139012	0	NA	ENST00000391945		ENSG00000104884	3434		16	0.74		HGNC	p.M247L		ERCC2		SNV			1				ENST00000391945	protein_coding	getma.org/?cm=var&var=hg19,19,45867569,T,A&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Pfam_domain:PF06733,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488,Superfamily_domains:SSF52540		M/L		A	neutral	817/4153		getma.org/?cm=msa&ty=f&p=ERCC2_HUMAN&rb=72&re=256&var=M247L	tolerated(1)	K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,missense_variant,p.Met247Leu,ENST00000391945,NM_000400.3;ERCC2,missense_variant,p.Met223Leu,ENST00000391941,;ERCC2,missense_variant,p.Met169Leu,ENST00000391944,;ERCC2,missense_variant,p.Met223Leu,ENST00000485403,NM_001130867.1;ERCC2,missense_variant,p.Met223Leu,ENST00000391940,;ERCC2,missense_variant,p.Met223Leu,ENST00000586131,;ERCC2,synonymous_variant,p.=,ENST00000221481,;ERCC2,downstream_gene_variant,,ENST00000586856,;ERCC2,synonymous_variant,p.=,ENST00000591309,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586441,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586737,;ERCC2,upstream_gene_variant,,ENST00000391942,;ERCC2,upstream_gene_variant,,ENST00000587376,;							MODERATE	739/2283	M247L	ERCC2_HUMAN			Transcript		benign(0.014)	.	ENSP00000375809		CCDS33049.1			1	
TAC3	0	LGGM	GRCh37	12	57407402	57407402	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	6	7	.	.	ENST00000458521.2:c.168T>A	p.Ser56=	p.S56=	ENST00000458521	NM_013251.3	56	tcT/tcA	0	1		UPI00000312E8	0		ENST00000300108		ENSG00000166863	11521		13			HGNC	p.S56S		TAC3		SNV			1				ENST00000379411	nonsense_mediated_decay			hmmpanther:PTHR15536:SF1,hmmpanther:PTHR15536,PIRSF_domain:PIRSF001843,Prints_domain:PR01828		S		T		307/1120				Q2UVB8_HUMAN				TAC3,synonymous_variant,p.=,ENST00000458521,NM_013251.3;TAC3,synonymous_variant,p.=,ENST00000441881,NM_001178054.1;TAC3,synonymous_variant,p.=,ENST00000415231,;TAC3,synonymous_variant,p.=,ENST00000393867,;TAC3,synonymous_variant,p.=,ENST00000300108,;TAC3,synonymous_variant,p.=,ENST00000379411,;TAC3,synonymous_variant,p.=,ENST00000438756,;TAC3,synonymous_variant,p.=,ENST00000357616,;TAC3,synonymous_variant,p.=,ENST00000423597,;TAC3,non_coding_transcript_exon_variant,,ENST00000496757,;							LOW	168/366		TKNK_HUMAN			Transcript			.	ENSP00000300108		CCDS8928.1			1	
RP11-723O4.6	0	LGGM	GRCh37	3	128651784	128651784	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	7	.	.	ENST00000508239.1:c.1148T>A	p.Leu383Gln	p.L383Q	ENST00000508239		383	cTg/cAg	0	1	1	UPI00001C0B67	0	NA	ENST00000508239		ENSG00000187695			34	2.33		Clone_based_vega_gene	p.L383Q		RP11-723O4.6		SNV							ENST00000344062	protein_coding	getma.org/?cm=var&var=hg19,3,128651784,A,T&fts=all				L/Q		T	medium	1295/2291		getma.org/?cm=msa&ty=f&p=YC006_HUMAN&rb=1&re=559&var=L383Q	tolerated(0.06)	D6RBZ9_HUMAN			YES	RP11-723O4.6,missense_variant,p.Leu383Gln,ENST00000508239,;KIAA1257,intron_variant,,ENST00000511438,;							MODERATE	1148/1719	L383Q	YC006_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000424951					1	
MPP2	0	LGGM	GRCh37	17	41959818	41959818	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	32	7	.	.	ENST00000269095.4:c.515T>A	p.Met172Lys	p.M172K	ENST00000269095	NM_001278374.1	172	aTg/aAg	0	1		UPI0000456AB2	0	getma.org/pdb.php?prot=MPP2_HUMAN&from=165&to=240&var=M196K	ENST00000461854		ENSG00000108852	7220		39	3.24		HGNC	p.M172K		MPP2		SNV							ENST00000269095	protein_coding	getma.org/?cm=var&var=hg19,17,41959818,A,T&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR23122,hmmpanther:PTHR23122:SF38,SMART_domains:SM00228,Superfamily_domains:SSF50156		M/K		T	medium	673/3462		getma.org/?cm=msa&ty=f&p=MPP2_HUMAN&rb=165&re=240&var=M196K	deleterious(0.02)	E7EV91_HUMAN,E5RIM9_HUMAN				MPP2,missense_variant,p.Met172Lys,ENST00000269095,NM_001278374.1,NM_001278373.1,NM_005374.4,NM_001278381.1;MPP2,missense_variant,p.Met189Lys,ENST00000377184,NM_001278376.1;MPP2,missense_variant,p.Met196Lys,ENST00000461854,NM_001278372.1;MPP2,missense_variant,p.Met161Lys,ENST00000536246,NM_001278375.1;MPP2,missense_variant,p.Met161Lys,ENST00000523501,;MPP2,missense_variant,p.Met33Lys,ENST00000520305,;MPP2,missense_variant,p.Met217Lys,ENST00000518766,NM_001278371.1,NM_001278370.1;MPP2,missense_variant,p.Met155Lys,ENST00000523220,;MPP2,downstream_gene_variant,,ENST00000520406,;MPP2,downstream_gene_variant,,ENST00000522172,;MPP2,downstream_gene_variant,,ENST00000523934,;MPP2,downstream_gene_variant,,ENST00000523762,;MPP2,downstream_gene_variant,,ENST00000521178,;MPP2,downstream_gene_variant,,ENST00000520241,;MPP2,non_coding_transcript_exon_variant,,ENST00000473246,;MPP2,downstream_gene_variant,,ENST00000524294,;MPP2,non_coding_transcript_exon_variant,,ENST00000520319,;							MODERATE	587/1731	M196K	MPP2_HUMAN			Transcript		benign(0.201)	.	ENSP00000428286		CCDS62209.1			1	
IFITM5	0	LGGM	GRCh37	11	298668	298668	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	12	7	.	.	ENST00000382614.2:c.232T>A	p.Phe78Ile	p.F78I	ENST00000382614	NM_001025295.2	78	Ttt/Att	0	1	1	UPI0000161610	0	NA	ENST00000382614		ENSG00000206013	16644		19	2.085		HGNC	p.F78I		IFITM5		SNV			1				ENST00000382614	protein_coding	getma.org/?cm=var&var=hg19,11,298668,A,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF10		F/I		T	medium	268/736		getma.org/?cm=msa&ty=f&p=IFM5_HUMAN&rb=19&re=101&var=F78I	tolerated(0.06)				YES	IFITM5,missense_variant,p.Phe78Ile,ENST00000382614,NM_001025295.2;ATHL1,downstream_gene_variant,,ENST00000409548,NM_025092.4;ATHL1,downstream_gene_variant,,ENST00000409479,;ATHL1,downstream_gene_variant,,ENST00000409655,;ATHL1,downstream_gene_variant,,ENST00000397660,;ATHL1,downstream_gene_variant,,ENST00000474221,;ATHL1,downstream_gene_variant,,ENST00000476372,;							MODERATE	232/399	F78I	IFM5_HUMAN			Transcript		benign(0.047)	.	ENSP00000372059		CCDS31323.1			1	
ST6GALNAC1	0	LGGM	GRCh37	17	74623198	74623198	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	7	7	.	.	ENST00000156626.7:c.1123A>T	p.Asn375Tyr	p.N375Y	ENST00000156626	NM_018414.3	375	Aac/Tac	0	1	1	UPI0000001C00	0	getma.org/pdb.php?prot=SIA7A_HUMAN&from=298&to=591&var=N375Y	ENST00000156626		ENSG00000070526	23614		14	2.65		HGNC	p.N375Y		ST6GALNAC1		SNV							ENST00000359088	protein_coding	getma.org/?cm=var&var=hg19,17,74623198,T,A&fts=all		hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713,Pfam_domain:PF00777		N/Y		A	medium	1323/2570		getma.org/?cm=msa&ty=f&p=SIA7A_HUMAN&rb=298&re=591&var=N375Y					YES	ST6GALNAC1,missense_variant,p.Asn375Tyr,ENST00000156626,NM_018414.3;ST6GALNAC1,missense_variant,p.Asn18Tyr,ENST00000590784,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000590878,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000589004,;ST6GALNAC1,missense_variant,p.Asn375Tyr,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,upstream_gene_variant,,ENST00000585633,;ST6GALNAC1,upstream_gene_variant,,ENST00000588375,;ST6GALNAC1,downstream_gene_variant,,ENST00000589813,;							MODERATE	1123/1803	N375Y	SIA7A_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000156626		CCDS11748.1			1	
AK7	0	LGGM	GRCh37	14	96939075	96939075	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	7	.	.	ENST00000267584.4:c.1538A>T	p.Asp513Val	p.D513V	ENST00000267584	NM_152327.3	513	gAt/gTt	0	1	1	UPI00001FDB1D	0	getma.org/pdb.php?prot=KAD7_HUMAN&from=369&to=683&var=D513V	ENST00000267584		ENSG00000140057	20091		28	2.42		HGNC	p.D513V		AK7		SNV							ENST00000267584	protein_coding	getma.org/?cm=var&var=hg19,14,96939075,A,T&fts=all		hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF71,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		D/V		T	medium	1582/3300		getma.org/?cm=msa&ty=f&p=KAD7_HUMAN&rb=369&re=683&var=D513V	deleterious(0)				YES	AK7,missense_variant,p.Asp513Val,ENST00000267584,NM_152327.3;							MODERATE	1538/2172	D513V	KAD7_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000267584		CCDS9945.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110420276	110420276	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	82	8	.	.	ENST00000378402.5:c.1814-2A>T		p.X605_splice	ENST00000378402	NM_177531.4			0	1	1	UPI0000E5B020	0		ENST00000378402		ENSG00000205038	20313		90			HGNC	-		PKHD1L1		SNV							ENST00000378402	protein_coding							T		-/13076							YES	PKHD1L1,splice_acceptor_variant,,ENST00000378402,NM_177531.4;							HIGH	1814/12732		PKHL1_HUMAN			Transcript			.	ENSP00000367655		CCDS47911.1			1	
ABCC10	0	LGGM	GRCh37	6	43399898	43399898	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	8	.	.	ENST00000372530.4:c.180A>T	p.Leu60=	p.L60=	ENST00000372530	NM_001198934.1	60	ctA/ctT	0	1	1	UPI000004A062	0		ENST00000372530		ENSG00000124574	52		28			HGNC	p.L17L		ABCC10		SNV							ENST00000244533	protein_coding			hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF197		L		T		395/5033				Q9UFG1_HUMAN,Q8TBA1_HUMAN,D6R9B3_HUMAN			YES	ABCC10,synonymous_variant,p.=,ENST00000244533,NM_033450.2;ABCC10,synonymous_variant,p.=,ENST00000372530,NM_001198934.1;ABCC10,intron_variant,,ENST00000372515,;ABCC10,non_coding_transcript_exon_variant,,ENST00000502549,;ABCC10,intron_variant,,ENST00000443426,;ABCC10,upstream_gene_variant,,ENST00000463024,;							LOW	180/4479		MRP7_HUMAN			Transcript			.	ENSP00000361608		CCDS56430.1			1	
RC3H1	0	LGGM	GRCh37	1	173934244	173934244	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	8	.	.	ENST00000367696.2:c.1349A>G	p.Asn450Ser	p.N450S	ENST00000367696		450	aAt/aGt	0	1		UPI00001D7DA8	0	NA	ENST00000258349		ENSG00000135870	29434		35	1.845		HGNC	p.N450S		RC3H1		SNV							ENST00000367694	protein_coding	getma.org/?cm=var&var=hg19,1,173934244,T,C&fts=all		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF6		N/S		C	low	1428/10988		getma.org/?cm=msa&ty=f&p=RC3H1_HUMAN&rb=441&re=640&var=N450S	deleterious(0.05)	B9EGU6_HUMAN				RC3H1,missense_variant,p.Asn450Ser,ENST00000367696,;RC3H1,missense_variant,p.Asn450Ser,ENST00000258349,NM_172071.2;RC3H1,missense_variant,p.Asn450Ser,ENST00000367694,;RNA5SP68,downstream_gene_variant,,ENST00000363885,;RC3H1,upstream_gene_variant,,ENST00000531594,;							MODERATE	1349/3402	N450S	RC3H1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000258349		CCDS30940.1			1	
SPAG17	0	LGGM	GRCh37	1	118558601	118558601	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	8	.	.	ENST00000336338.5:c.4274C>T	p.Pro1425Leu	p.P1425L	ENST00000336338	NM_206996.2	1425	cCt/cTt	0	1	1	UPI00001601FD	0	NA	ENST00000336338		ENSG00000155761	26620		35	2.215		HGNC	p.P1425L	rs764956607	SPAG17		SNV							ENST00000336338	protein_coding	getma.org/?cm=var&var=hg19,1,118558601,G,A&fts=all		hmmpanther:PTHR21963		P/L		A	medium	4340/6924	4.51E-05	getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1231&re=1819&var=P1425L	tolerated(0.06)	A7LBF9_HUMAN			YES	SPAG17,missense_variant,p.Pro1425Leu,ENST00000336338,NM_206996.2;							MODERATE	4274/6672	P1425L	SPG17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337804	2.47E-05	CCDS899.1			1	
DNASE1L3	0	LGGM	GRCh37	3	58196632	58196632	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	28	8	.	.	ENST00000318316.3:c.2T>A	p.Met1?	p.M1?	ENST00000318316		1	aTg/aAg	0	1		UPI0000129890	0	NA	ENST00000394549		ENSG00000163687	2959		36	0		HGNC	p.M1K		DNASE1L3		SNV			1				ENST00000461914	protein_coding	getma.org/?cm=var&var=hg19,3,58196632,A,T&fts=all		PIRSF_domain:PIRSF000988,hmmpanther:PTHR11371,hmmpanther:PTHR11371:SF21,Cleavage_site_(Signalp):SignalP-noTM		M/K		T	NA	319/1294		http://getma.org/?cm=msa&ty=f&p=DNSL3_HUMAN&rb=1&re=53&var=M1K	deleterious_low_confidence(0)	C9J9N0_HUMAN,C9J0L2_HUMAN				DNASE1L3,start_lost,p.Met1?,ENST00000483681,;DNASE1L3,start_lost,p.Met1?,ENST00000318316,;DNASE1L3,start_lost,p.Met1?,ENST00000486455,NM_001256560.1;DNASE1L3,start_lost,p.Met1?,ENST00000394549,NM_004944.3;DNASE1L3,start_lost,p.Met1?,ENST00000460422,;DNASE1L3,start_lost,p.Met1?,ENST00000461914,;DNASE1L3,non_coding_transcript_exon_variant,,ENST00000463694,;							HIGH	2/918	M1K	DNSL3_HUMAN			Transcript		benign(0.042)	.	ENSP00000378053		CCDS2886.1			1	
KDR	0	LGGM	GRCh37	4	55970828	55970828	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	8	.	.	ENST00000263923.4:c.1969A>T	p.Arg657Trp	p.R657W	ENST00000263923	NM_002253.2	657	Agg/Tgg	0	1	1	UPI000003AE04	0	NA	ENST00000263923		ENSG00000128052	6307		27	1.995		HGNC	p.R657W		KDR		SNV			1				ENST00000263923	protein_coding	getma.org/?cm=var&var=hg19,4,55970828,T,A&fts=all		Prints_domain:PR01834,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/W		A	medium	2265/5831		getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=550&re=661&var=R657W	deleterious(0.03)	B4DEK3_HUMAN			YES	KDR,missense_variant,p.Arg657Trp,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;							MODERATE	1969/4071	R657W	VGFR2_HUMAN			Transcript		benign(0.049)	.	ENSP00000263923		CCDS3497.1			1	
KNDC1	0	LGGM	GRCh37	10	135000139	135000139	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	8	.	.	ENST00000304613.3:c.1287A>T	p.Pro429=	p.P429=	ENST00000304613		429	ccA/ccT	0	1	1	UPI00003529F7	0		ENST00000304613		ENSG00000171798	29374		28			HGNC	p.P364P		KNDC1		SNV							ENST00000368571	protein_coding			hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560		P		T		1308/6793				B4DFN0_HUMAN			YES	KNDC1,synonymous_variant,p.=,ENST00000304613,;KNDC1,synonymous_variant,p.=,ENST00000368572,NM_152643.6;KNDC1,synonymous_variant,p.=,ENST00000368571,;							LOW	1287/5250		VKIND_HUMAN			Transcript			.	ENSP00000304437		CCDS7674.1			1	
COL9A1	0	LGGM	GRCh37	6	70981385	70981385	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	29	8	.	.	ENST00000357250.6:c.1116T>A	p.Pro372=	p.P372=	ENST00000357250	NM_001851.4	372	ccT/ccA	0	1	1	UPI000020D14B	0		ENST00000357250		ENSG00000112280	2217		37			HGNC	p.P372P		COL9A1		SNV			1				ENST00000357250	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454,Low_complexity_(Seg):seg		P		T		1275/4761							YES	COL9A1,synonymous_variant,p.=,ENST00000357250,NM_001851.4;COL9A1,synonymous_variant,p.=,ENST00000320755,NM_078485.3;COL9A1,synonymous_variant,p.=,ENST00000370499,;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,;COL9A1,downstream_gene_variant,,ENST00000470652,;							LOW	1116/2766		CO9A1_HUMAN			Transcript			.	ENSP00000349790		CCDS4971.1			1	
ANKRD44	0	LGGM	GRCh37	2	197865186	197865186	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	8	.	.	ENST00000282272.8:c.2452G>A	p.Ala818Thr	p.A818T	ENST00000282272	NM_001195144.1	818	Gcc/Acc	0	1		UPI0001AE772B	0	getma.org/pdb.php?prot=ANR44_HUMAN&from=808&to=903&var=A826T	ENST00000282272		ENSG00000065413	25259		48	0.645		HGNC	p.A801T		ANKRD44		SNV							ENST00000450567	protein_coding	getma.org/?cm=var&var=hg19,2,197865186,C,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,SMART_domains:SM00248,Superfamily_domains:SSF48403		A/T		T	neutral	2452/2958		getma.org/?cm=msa&ty=f&p=ANR44_HUMAN&rb=808&re=903&var=A826T	tolerated(0.48)	Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,missense_variant,p.Ala801Thr,ENST00000328737,;ANKRD44,missense_variant,p.Ala801Thr,ENST00000450567,;ANKRD44,missense_variant,p.Ala801Thr,ENST00000337207,;ANKRD44,missense_variant,p.Ala818Thr,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Ala641Thr,ENST00000424317,;ANKRD44,missense_variant,p.Ala15Thr,ENST00000448801,;							MODERATE	2452/2958	A826T				Transcript		benign(0.003)	.	ENSP00000282272					1	
IDE	0	LGGM	GRCh37	10	94297169	94297169	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	67	8	.	.	ENST00000265986.6:c.237T>G	p.Ser79Arg	p.S79R	ENST00000265986	NM_004969.3	79	agT/agG	0	1	1	UPI000013D6B6	0	getma.org/pdb.php?prot=IDE_HUMAN&from=74&to=212&var=S79R	ENST00000265986		ENSG00000119912	5381		75	3.33		HGNC	p.S79R		IDE		SNV							ENST00000265986	protein_coding	getma.org/?cm=var&var=hg19,10,94297169,A,C&fts=all		Superfamily_domains:SSF63411,Pfam_domain:PF00675,Gene3D:3.30.830.10,hmmpanther:PTHR11851:SF85,hmmpanther:PTHR11851		S/R		C	medium	294/5877		getma.org/?cm=msa&ty=f&p=IDE_HUMAN&rb=74&re=212&var=S79R	deleterious(0)				YES	IDE,missense_variant,p.Ser79Arg,ENST00000265986,NM_004969.3;IDE,missense_variant,p.Ser65Arg,ENST00000436178,;IDE,3_prime_UTR_variant,,ENST00000478361,;							MODERATE	237/3060	S79R	IDE_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000265986		CCDS7421.1			1	
RYR1	0	LGGM	GRCh37	19	39058455	39058455	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	32	8	.	.	ENST00000359596.3:c.13557A>T	p.Pro4519=	p.P4519=	ENST00000359596		4519	ccA/ccT	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		40			HGNC	p.P4514P		RYR1		SNV			1				ENST00000355481	protein_coding			Pfam_domain:PF06459,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15,Low_complexity_(Seg):seg		P		T		13557/15117				O75591_HUMAN,B4DET7_HUMAN			YES	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.=,ENST00000593677,;RYR1,downstream_gene_variant,,ENST00000594335,;							LOW	13557/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
APBB1IP	0	LGGM	GRCh37	10	26830589	26830589	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	8	.	.	ENST00000376236.4:c.1123A>G	p.Lys375Glu	p.K375E	ENST00000376236	NM_019043.3	375	Aaa/Gaa	0	1	1	UPI00001AF165	0	getma.org/pdb.php?prot=AB1IP_HUMAN&from=311&to=419&var=K375E	ENST00000376236		ENSG00000077420	17379		29	2.67		HGNC	p.K375E		APBB1IP		SNV							ENST00000376236	protein_coding	getma.org/?cm=var&var=hg19,10,26830589,A,G&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF14,SMART_domains:SM00233,Superfamily_domains:SSF50729		K/E		G	medium	1578/2771		getma.org/?cm=msa&ty=f&p=AB1IP_HUMAN&rb=311&re=419&var=K375E	deleterious(0.01)				YES	APBB1IP,missense_variant,p.Lys375Glu,ENST00000376236,NM_019043.3;							MODERATE	1123/2001	K375E	AB1IP_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000365411		CCDS31167.1			1	
EXTL1	0	LGGM	GRCh37	1	26349279	26349279	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	8	.	.	ENST00000374280.3:c.142C>T	p.Arg48Cys	p.R48C	ENST00000374280	NM_004455.2	48	Cgc/Tgc	0	1	1	UPI000013DF48	0	NA	ENST00000374280		ENSG00000158008	3515		29	2.175		HGNC	p.R48C		EXTL1		SNV							ENST00000374280	protein_coding	getma.org/?cm=var&var=hg19,1,26349279,C,T&fts=all		hmmpanther:PTHR11062:SF8,hmmpanther:PTHR11062		R/C		T	medium	1009/4015		getma.org/?cm=msa&ty=f&p=EXTL1_HUMAN&rb=1&re=91&var=R48C	deleterious(0.04)				YES	EXTL1,missense_variant,p.Arg48Cys,ENST00000374280,NM_004455.2;EXTL1,intron_variant,,ENST00000481377,;EXTL1,upstream_gene_variant,,ENST00000484339,;							MODERATE	142/2031	R48C	EXTL1_HUMAN			Transcript		benign(0.026)	.	ENSP00000363398		CCDS271.1			1	
ZBTB17	0	LGGM	GRCh37	1	16272234	16272234	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	14	8	.	.	ENST00000375743.4:c.637G>A	p.Ala213Thr	p.A213T	ENST00000375743	NM_003443.2	213	Gct/Act	0	1	1	UPI000013C9D2	0	NA	ENST00000375743		ENSG00000116809	12936		22	0.695		HGNC	p.A150T	rs548130871	ZBTB17		SNV							ENST00000448462	protein_coding	getma.org/?cm=var&var=hg19,1,16272234,C,T&fts=all	T:0	hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF165,Low_complexity_(Seg):seg		A/T		T	neutral	870/2745		getma.org/?cm=msa&ty=f&p=ZBT17_HUMAN&rb=114&re=313&var=A213T	tolerated_low_confidence(0.28)		T:0	T:0.001	YES	ZBTB17,missense_variant,p.Ala213Thr,ENST00000375733,NM_001287603.1;ZBTB17,missense_variant,p.Ala213Thr,ENST00000375743,NM_003443.2,NM_001287604.1;ZBTB17,missense_variant,p.Ala131Thr,ENST00000537142,NM_001242884.1;ZBTB17,missense_variant,p.Ala150Thr,ENST00000448462,;ZBTB17,upstream_gene_variant,,ENST00000440560,;ZBTB17,upstream_gene_variant,,ENST00000444358,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000492834,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000490899,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000464719,;ZBTB17,downstream_gene_variant,,ENST00000479282,;ZBTB17,downstream_gene_variant,,ENST00000494020,;ZBTB17,upstream_gene_variant,,ENST00000474511,;ZBTB17,upstream_gene_variant,,ENST00000462525,;ZBTB17,upstream_gene_variant,,ENST00000472658,;ZBTB17,upstream_gene_variant,,ENST00000471805,;ZBTB17,upstream_gene_variant,,ENST00000488008,;ZBTB17,upstream_gene_variant,,ENST00000487785,;		T:0.0002					MODERATE	637/2412	A213T	ZBT17_HUMAN		T:0	Transcript		benign(0.198)	.	ENSP00000364895		CCDS165.1		T:0	1	
ZNF445	0	LGGM	GRCh37	3	44488281	44488281	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	8	.	.	ENST00000425708.2:c.2882A>T	p.Gln961Leu	p.Q961L	ENST00000425708		961	cAg/cTg	0	1		UPI000019AD12	0	NA	ENST00000396077		ENSG00000185219	21018		48	1.46		HGNC	p.Q961L		ZNF445		SNV							ENST00000396077	protein_coding	getma.org/?cm=var&var=hg19,3,44488281,T,A&fts=all		hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF48		Q/L		A	low	3230/9105		getma.org/?cm=msa&ty=f&p=ZN445_HUMAN&rb=919&re=991&var=Q961L	deleterious(0.01)	B7ZKX2_HUMAN				ZNF445,missense_variant,p.Gln961Leu,ENST00000425708,;ZNF445,missense_variant,p.Gln961Leu,ENST00000396077,NM_181489.5;ZNF445,downstream_gene_variant,,ENST00000460529,;							MODERATE	2882/3096	Q961L	ZN445_HUMAN			Transcript		benign(0.069)	.	ENSP00000379387		CCDS2713.1			1	
ZBTB8B	0	LGGM	GRCh37	1	32937033	32937033	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	13	8	.	.	ENST00000480336.1:c.808T>A	p.Leu270Met	p.L270M	ENST00000480336		270	Ttg/Atg	0	1	1	UPI000195170E	0	NA	ENST00000609129		ENSG00000273274	37057		21	0.805		HGNC	p.L270M		ZBTB8B		SNV							ENST00000415091	protein_coding	getma.org/?cm=var&var=hg19,1,32937033,T,A&fts=all		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF26		L/M		A	low	886/12834		getma.org/?cm=msa&ty=f&p=ZBT8B_HUMAN&rb=131&re=319&var=L270M	deleterious(0.05)				YES	ZBTB8B,missense_variant,p.Leu270Met,ENST00000609129,NM_001145720.1;RP1-27O5.3,missense_variant,p.Leu270Met,ENST00000480336,;							MODERATE	808/1488	L270M	ZBT8B_HUMAN			Transcript		benign(0.066)	.	ENSP00000476499		CCDS44104.1			1	
ADAM23	0	LGGM	GRCh37	2	207435505	207435505	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	10	.	.	ENST00000264377.3:c.1536T>A	p.Ala512=	p.A512=	ENST00000264377	NM_003812.3	512	gcT/gcA	0	1	1	UPI0000044543	0		ENST00000264377		ENSG00000114948	202		27			HGNC	p.A512A		ADAM23		SNV							ENST00000374416	protein_coding			Superfamily_domains:SSF57552,SMART_domains:SM00050,Pfam_domain:PF00200,Gene3D:3.40.390.10,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF13,PROSITE_profiles:PS50214		A		A		1864/6327				Q53TK5_HUMAN,Q53TC0_HUMAN,Q53RX4_HUMAN			YES	ADAM23,synonymous_variant,p.=,ENST00000264377,NM_003812.3;ADAM23,synonymous_variant,p.=,ENST00000374416,;ADAM23,synonymous_variant,p.=,ENST00000374415,;							LOW	1536/2499		ADA23_HUMAN			Transcript			.	ENSP00000264377		CCDS2369.1			1	
TMBIM4	0	LGGM	GRCh37	12	66541686	66541686	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	22	9	.	.	ENST00000358230.3:c.346+2T>A		p.X116_splice	ENST00000358230	NM_016056.2			0	1	1	UPI00001FC6E2	0		ENST00000358230		ENSG00000155957	24257		31			HGNC	-		TMBIM4		SNV							ENST00000556010	protein_coding							T		-/2952				G3V1R8_HUMAN			YES	TMBIM4,splice_donor_variant,,ENST00000358230,NM_016056.2;TMBIM4,splice_donor_variant,,ENST00000544599,;TMBIM4,splice_donor_variant,,ENST00000286424,NM_001282606.1;TMBIM4,splice_donor_variant,,ENST00000556010,;TMBIM4,splice_donor_variant,,ENST00000542724,;TMBIM4,splice_donor_variant,,ENST00000398033,;TMBIM4,splice_donor_variant,,ENST00000545407,;TMBIM4,splice_donor_variant,,ENST00000539652,;TMBIM4,splice_donor_variant,,ENST00000534930,;TMBIM4,splice_donor_variant,,ENST00000545504,;							HIGH	346/717		LFG4_HUMAN			Transcript			.	ENSP00000350965		CCDS41805.1			1	
ATP2C1	0	LGGM	GRCh37	3	130660434	130660434	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	9	.	.	ENST00000393221.4:c.525-1G>T		p.X175_splice	ENST00000393221				0	1		UPI000015F977	0		ENST00000428331		ENSG00000017260	13211		28			HGNC	-		ATP2C1		SNV			1				ENST00000504381	protein_coding							T		-/4795				D6RHV9_HUMAN,D6RGE9_HUMAN,D6REJ1_HUMAN,D6R9U9_HUMAN				ATP2C1,splice_acceptor_variant,,ENST00000510168,;ATP2C1,splice_acceptor_variant,,ENST00000508532,NM_001199179.1;ATP2C1,splice_acceptor_variant,,ENST00000505330,NM_001199181.1;ATP2C1,splice_acceptor_variant,,ENST00000428331,NM_014382.3;ATP2C1,splice_acceptor_variant,,ENST00000504948,NM_001199184.1;ATP2C1,splice_acceptor_variant,,ENST00000507488,NM_001199180.1;ATP2C1,splice_acceptor_variant,,ENST00000504381,NM_001199182.1;ATP2C1,splice_acceptor_variant,,ENST00000328560,NM_001199185.1,NM_001001485.2;ATP2C1,splice_acceptor_variant,,ENST00000393221,;ATP2C1,splice_acceptor_variant,,ENST00000513801,NM_001199183.1;ATP2C1,splice_acceptor_variant,,ENST00000359644,NM_001001486.1;ATP2C1,splice_acceptor_variant,,ENST00000422190,NM_001001487.1;ATP2C1,splice_acceptor_variant,,ENST00000533801,;ATP2C1,splice_acceptor_variant,,ENST00000504612,;ATP2C1,downstream_gene_variant,,ENST00000505072,;							HIGH	423/2760		AT2C1_HUMAN			Transcript			.	ENSP00000395809		CCDS46914.1			1	
RYR2	0	LGGM	GRCh37	1	237655226	237655226	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	31	9	.	.	ENST00000366574.2:c.1827+2T>A		p.X609_splice	ENST00000366574	NM_001035.2			0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		40			HGNC	-		RYR2		SNV			1				ENST00000366574	protein_coding							A		-/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,splice_donor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_donor_variant,,ENST00000542537,;RYR2,splice_donor_variant,,ENST00000360064,;							HIGH	1827/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
JAKMIP1	0	LGGM	GRCh37	4	6114576	6114576	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	28	9	.	.	ENST00000409021.3:c.2T>A	p.Met1?	p.M1?	ENST00000409021	NM_001099433.1	1	aTg/aAg	0	1		UPI000006EC16	0	NA	ENST00000282924		ENSG00000152969	26460		37	0		HGNC	p.M1K		JAKMIP1		SNV							ENST00000410077	protein_coding	getma.org/?cm=var&var=hg19,4,6114576,A,T&fts=all				M/K		T	NA	488/2585		http://getma.org/?cm=msa&ty=f&p=JKIP1_HUMAN&rb=1&re=602&var=M1K	deleterious(0)	F2Z2K5_HUMAN				JAKMIP1,start_lost,p.Met1?,ENST00000409021,NM_001099433.1;JAKMIP1,start_lost,p.Met1?,ENST00000282924,NM_144720.3;JAKMIP1,start_lost,p.Met1?,ENST00000409371,;JAKMIP1,start_lost,p.Met1?,ENST00000409831,;JAKMIP1,start_lost,p.Met1?,ENST00000410077,;JAKMIP1,intron_variant,,ENST00000457227,;JAKMIP1,start_lost,p.Met1?,ENST00000473053,;							HIGH	2/1881	M1K	JKIP1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000282924		CCDS3385.1			1	
INO80	0	LGGM	GRCh37	15	41341556	41341556	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	9	.	.	ENST00000361937.3:c.2505A>T	p.Leu835=	p.L835=	ENST00000361937		835	ctA/ctT	0	1	1	UPI00001B6AFC	0		ENST00000361937		ENSG00000128908	26956		45			HGNC	p.L835L		INO80		SNV							ENST00000361937	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF213,Superfamily_domains:SSF52540		L		A		2930/6439				Q9NUK2_HUMAN			YES	INO80,synonymous_variant,p.=,ENST00000361937,;INO80,synonymous_variant,p.=,ENST00000401393,NM_017553.1;INO80,synonymous_variant,p.=,ENST00000558357,;INO80,downstream_gene_variant,,ENST00000559995,;							LOW	2505/4671		INO80_HUMAN			Transcript			.	ENSP00000355205		CCDS10071.1			1	
LIG4	0	LGGM	GRCh37	13	108861822	108861822	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	34	9	.	.	ENST00000356922.4:c.1795C>A	p.Leu599Ile	p.L599I	ENST00000356922	NM_002312.3	599	Cta/Ata	0	1	1	UPI00000742BF	0	NA	ENST00000356922		ENSG00000174405	6601		43	2.28		HGNC	p.L599I		LIG4		SNV			1				ENST00000442234	protein_coding	getma.org/?cm=var&var=hg19,13,108861822,G,T&fts=all		hmmpanther:PTHR10459,hmmpanther:PTHR10459:SF7,TIGRFAM_domain:TIGR00574,Gene3D:2.40.50.140,Superfamily_domains:SSF50249		L/I		T	medium	2068/4103		getma.org/?cm=msa&ty=f&p=DNLI4_HUMAN&rb=589&re=653&var=L599I	tolerated(0.1)				YES	LIG4,missense_variant,p.Leu599Ile,ENST00000356922,NM_002312.3,NM_206937.1;LIG4,missense_variant,p.Leu599Ile,ENST00000405925,NM_001098268.1;LIG4,missense_variant,p.Leu599Ile,ENST00000442234,;							MODERATE	1795/2736	L599I	DNLI4_HUMAN			Transcript		benign(0.048)	.	ENSP00000349393		CCDS9508.1			1	
TP53	0	LGGM	GRCh37	17	7577135	7577135	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	7	9	.	.	ENST00000269305.4:c.803A>T	p.Asn268Ile	p.N268I	ENST00000269305	NM_001126112.2	268	aAc/aTc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=N268I	ENST00000269305		ENSG00000141510	11998		16	1.78		HGNC	p.N268I	TP53_g.13783A>T	TP53		SNV			1				ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577135,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		N/I		A	low	993/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=N268I	deleterious(0)	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			YES	TP53,missense_variant,p.Asn268Ile,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Asn268Ile,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Asn268Ile,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Asn268Ile,ENST00000445888,;TP53,missense_variant,p.Asn268Ile,ENST00000359597,;TP53,missense_variant,p.Asn136Ile,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,;							MODERATE	803/1182	N268I	P53_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000269305		CCDS11118.1			1	
FASTKD2	0	LGGM	GRCh37	2	207638967	207638967	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	9	.	.	ENST00000236980.6:c.1273T>G	p.Leu425Val	p.L425V	ENST00000236980	NM_014929.3	425	Tta/Gta	0	1	1	UPI0000073E9F	0	NA	ENST00000236980		ENSG00000118246	29160		36	1.445		HGNC	p.L425V		FASTKD2		SNV			1				ENST00000236980	protein_coding	getma.org/?cm=var&var=hg19,2,207638967,T,G&fts=all		hmmpanther:PTHR21228:SF1,hmmpanther:PTHR21228		L/V		G	low	1621/3188		getma.org/?cm=msa&ty=f&p=FAKD2_HUMAN&rb=401&re=455&var=L425V	tolerated(0.12)	C9JPI6_HUMAN			YES	FASTKD2,missense_variant,p.Leu425Val,ENST00000236980,NM_014929.3;FASTKD2,missense_variant,p.Leu425Val,ENST00000402774,NM_001136194.1,NM_001136193.1;FASTKD2,missense_variant,p.Leu425Val,ENST00000403094,;FASTKD2,non_coding_transcript_exon_variant,,ENST00000487777,;							MODERATE	1273/2133	L425V	FAKD2_HUMAN			Transcript		benign(0.101)	.	ENSP00000236980		CCDS2371.1			1	
DMRTC2	0	LGGM	GRCh37	19	42351704	42351704	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	9	.	.	ENST00000269945.3:c.208A>T	p.Lys70Ter	p.K70*	ENST00000269945	NM_001040283.1	70	Aaa/Taa	0	1	1	UPI0000071B2A	0	NA	ENST00000269945		ENSG00000142025	13911		26	0		HGNC	p.K70X		DMRTC2		SNV							ENST00000601660	protein_coding	getma.org/?cm=var&var=hg19,19,42351704,A,T&fts=all		Superfamily_domains:0040609,SMART_domains:SM00301,Pfam_domain:PF00751,Gene3D:1lpvA00,PROSITE_patterns:PS40000,hmmpanther:PTHR12322:SF12,hmmpanther:PTHR12322,PROSITE_profiles:PS50809		K/*		T	NA	259/1792		NA		M0R2D7_HUMAN,M0R1Z9_HUMAN,M0QZH7_HUMAN			YES	DMRTC2,stop_gained,p.Lys70Ter,ENST00000269945,NM_001040283.1;DMRTC2,stop_gained,p.Lys70Ter,ENST00000596827,;DMRTC2,stop_gained,p.Lys70Ter,ENST00000596660,;DMRTC2,stop_gained,p.Lys70Ter,ENST00000600017,;DMRTC2,stop_gained,p.Lys70Ter,ENST00000596258,;LYPD4,upstream_gene_variant,,ENST00000330743,NM_173506.4;LYPD4,upstream_gene_variant,,ENST00000601246,;DMRTC2,non_coding_transcript_exon_variant,,ENST00000602098,;DMRTC2,stop_gained,p.Lys70Ter,ENST00000601660,;DMRTC2,upstream_gene_variant,,ENST00000599022,;							HIGH	208/1104	K70*	DMRTD_HUMAN			Transcript			.	ENSP00000269945		CCDS33034.1			1	
COL6A3	0	LGGM	GRCh37	2	238280761	238280761	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	13	9	.	.	ENST00000295550.4:c.3899A>T	p.Gln1300Leu	p.Q1300L	ENST00000295550	NM_004369.3	1300	cAg/cTg	0	1	1	UPI0000456F39	0	getma.org/pdb.php?prot=CO6A3_HUMAN&from=1233&to=1404&var=Q1300L	ENST00000295550		ENSG00000163359	2213		22	1.305		HGNC	p.Q693L		COL6A3		SNV			1				ENST00000472056	protein_coding	getma.org/?cm=var&var=hg19,2,238280761,T,A&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300		Q/L		A	low	4352/10749		getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1233&re=1404&var=Q1300L		Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	COL6A3,missense_variant,p.Gln1300Leu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Gln1099Leu,ENST00000347401,;COL6A3,missense_variant,p.Gln1094Leu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Gln1100Leu,ENST00000346358,;COL6A3,missense_variant,p.Gln1094Leu,ENST00000409809,;COL6A3,missense_variant,p.Gln693Leu,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Gln1094Leu,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Gln893Leu,ENST00000392003,NM_057164.4;COL6A3,downstream_gene_variant,,ENST00000433762,;							MODERATE	3899/9534	Q1300L	CO6A3_HUMAN			Transcript		benign(0.365)	.	ENSP00000295550		CCDS33412.1			1	
ATRNL1	0	LGGM	GRCh37	10	116881573	116881573	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	9	.	.	ENST00000355044.3:c.488T>A	p.Leu163His	p.L163H	ENST00000355044	NM_207303.2	163	cTt/cAt	0	1	1	UPI000021CCF8	0	getma.org/pdb.php?prot=ATRN1_HUMAN&from=93&to=206&var=L163H	ENST00000355044		ENSG00000107518	29063		29	1.675		HGNC	p.L163H		ATRNL1		SNV							ENST00000355044	protein_coding	getma.org/?cm=var&var=hg19,10,116881573,T,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224,SMART_domains:SM00042,Superfamily_domains:SSF49854		L/H		A	low	614/8479		getma.org/?cm=msa&ty=f&p=ATRN1_HUMAN&rb=93&re=206&var=L163H	deleterious(0)				YES	ATRNL1,missense_variant,p.Leu163His,ENST00000355044,NM_207303.2;ATRNL1,missense_variant,p.Leu163His,ENST00000527407,NM_001276282.1;ATRNL1,missense_variant,p.Leu96His,ENST00000526946,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000529665,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000485327,;							MODERATE	488/4140	L163H	ATRN1_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000347152		CCDS7592.1			1	
MUC4	0	LGGM	GRCh37	3	195495895	195495895	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	9	.	.	ENST00000463781.3:c.13527T>A	p.Ser4509=	p.S4509=	ENST00000463781	NM_018406.6	4509	tcT/tcA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		28			HGNC	p.L4432Q		MUC4		SNV							ENST00000462323	protein_coding			Pfam_domain:PF06119,PROSITE_profiles:PS51220,hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,SMART_domains:SM00539		S		T		13987/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,splice_region_variant,p.=,ENST00000463781,NM_018406.6;MUC4,splice_region_variant,p.=,ENST00000475231,;MUC4,splice_region_variant,p.=,ENST00000346145,NM_004532.5;MUC4,splice_region_variant,p.=,ENST00000349607,NM_138297.4;MUC4,splice_region_variant,,ENST00000486425,;MUC4,missense_variant,p.Leu4432Gln,ENST00000462323,;MUC4,splice_region_variant,p.=,ENST00000478156,;MUC4,splice_region_variant,,ENST00000466475,;MUC4,splice_region_variant,,ENST00000477086,;MUC4,splice_region_variant,,ENST00000479406,;MUC4,splice_region_variant,,ENST00000448861,;MUC4,splice_region_variant,,ENST00000308466,;MUC4,splice_region_variant,,ENST00000415455,;MUC4,splice_region_variant,,ENST00000392407,;MUC4,intron_variant,,ENST00000477756,;MUC4,intron_variant,,ENST00000480843,;MUC4,intron_variant,,ENST00000470451,;MUC4,intron_variant,,ENST00000339251,;							LOW	13527/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
PCED1B	0	LGGM	GRCh37	12	47630072	47630072	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	9	.	.	ENST00000546455.1:c.1226A>T	p.Tyr409Phe	p.Y409F	ENST00000546455	NM_138371.2	409	tAt/tTt	0	1		UPI000006E8D2	0	NA	ENST00000432328		ENSG00000179715	28255		25	2.005		HGNC	p.Y409F		PCED1B		SNV							ENST00000432328	protein_coding	getma.org/?cm=var&var=hg19,12,47630072,A,T&fts=all		hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF1,Low_complexity_(Seg):seg		Y/F		T	medium	1704/2071		getma.org/?cm=msa&ty=f&p=F113B_HUMAN&rb=386&re=430&var=Y409F	deleterious(0)	F8VYL8_HUMAN,F8VUZ9_HUMAN,F8VUD2_HUMAN,F8VRF7_HUMAN				PCED1B,missense_variant,p.Tyr409Phe,ENST00000546455,NM_138371.2;PCED1B,missense_variant,p.Tyr409Phe,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,;							MODERATE	1226/1299	Y409F	PED1B_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000396040		CCDS8752.1			1	
SH2D1B	0	LGGM	GRCh37	1	162381716	162381716	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	9	.	.	ENST00000367929.2:c.91A>T	p.Arg31Ter	p.R31*	ENST00000367929	NM_053282.4	31	Aga/Tga	0	1	1	UPI00000015D1	0	NA	ENST00000367929		ENSG00000198574	30416		52	0		HGNC	p.R31X		SH2D1B		SNV							ENST00000367929	protein_coding	getma.org/?cm=var&var=hg19,1,162381716,T,A&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR11200,SMART_domains:SM00252,Superfamily_domains:SSF55550		R/*		A	NA	201/2523		NA					YES	SH2D1B,stop_gained,p.Arg31Ter,ENST00000367929,NM_053282.4;SH2D1B,stop_gained,p.Arg31Ter,ENST00000359567,;SH2D1B,non_coding_transcript_exon_variant,,ENST00000493550,;							HIGH	91/399	R31*	SH21B_HUMAN			Transcript			.	ENSP00000356906		CCDS30928.1			1	
ASPM	0	LGGM	GRCh37	1	197070428	197070428	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	10	.	.	ENST00000367409.4:c.7953A>T	p.Val2651=	p.V2651=	ENST00000367409	NM_018136.4	2651	gtA/gtT	0	1	1	UPI0000458904	0		ENST00000367409		ENSG00000066279	19048		27			HGNC	p.V2651V		ASPM		SNV			1				ENST00000367409	protein_coding			PROSITE_profiles:PS50096,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115		V		A		8210/10887							YES	ASPM,synonymous_variant,p.=,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;							LOW	7953/10434		ASPM_HUMAN			Transcript			.	ENSP00000356379		CCDS1389.1			1	
BRI3BP	0	LGGM	GRCh37	12	125509578	125509578	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	10	.	.	ENST00000341446.8:c.358A>T	p.Ser120Cys	p.S120C	ENST00000341446	NM_080626.5	120	Agc/Tgc	0	1	1	UPI000006D8B0	0	NA	ENST00000341446		ENSG00000184992	14251		26	1.15		HGNC	p.S120C		BRI3BP		SNV							ENST00000341446	protein_coding	getma.org/?cm=var&var=hg19,12,125509578,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31253,hmmpanther:PTHR31253:SF0,Pfam_domain:PF14965		S/C		T	low	449/6648		getma.org/?cm=msa&ty=f&p=BRI3B_HUMAN&rb=1&re=250&var=S120C	deleterious(0)				YES	BRI3BP,missense_variant,p.Ser120Cys,ENST00000341446,NM_080626.5;							MODERATE	358/756	S120C	BRI3B_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000340761		CCDS9262.1			1	
NIPAL2	0	LGGM	GRCh37	8	99215410	99215410	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	76	10	.	.	ENST00000341166.3:c.806C>G	p.Ala269Gly	p.A269G	ENST00000341166	NM_024759.1	269	gCc/gGc	0	1	1	UPI000007089C	0	NA	ENST00000341166		ENSG00000104361	25854		86	3.23		HGNC	p.A269G		NIPAL2		SNV							ENST00000341166	protein_coding	getma.org/?cm=var&var=hg19,8,99215410,G,C&fts=all		hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF16,Pfam_domain:PF05653		A/G		C	medium	1062/4581		getma.org/?cm=msa&ty=f&p=NPAL2_HUMAN&rb=43&re=336&var=A269G	deleterious(0)				YES	NIPAL2,missense_variant,p.Ala269Gly,ENST00000341166,NM_024759.1;NIPAL2,missense_variant,p.Ala269Gly,ENST00000430223,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000520545,;NIPAL2,non_coding_transcript_exon_variant,,ENST00000521820,;							MODERATE	806/1107	A269G	NPAL2_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000339256		CCDS6278.1			1	
HIST1H1T	0	LGGM	GRCh37	6	26108145	26108145	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	10	.	.	ENST00000338379.4:c.177A>T	p.Val59=	p.V59=	ENST00000338379	NM_005323.3	59	gtA/gtT	0	1	1	UPI000007478C	0		ENST00000338379		ENSG00000187475	4720		46			HGNC	p.V59V		HIST1H1T		SNV							ENST00000338379	protein_coding			PROSITE_profiles:PS51504,hmmpanther:PTHR11467:SF18,hmmpanther:PTHR11467,Gene3D:1.10.10.10,Pfam_domain:PF00538,SMART_domains:SM00526,Superfamily_domains:SSF46785,Prints_domain:PR00624		V		A		220/725							YES	HIST1H1T,synonymous_variant,p.=,ENST00000338379,NM_005323.3;HIST1H4C,downstream_gene_variant,,ENST00000377803,NM_003542.3;							LOW	177/624		H1T_HUMAN			Transcript			.	ENSP00000341214		CCDS34349.1			1	
UMODL1	0	LGGM	GRCh37	21	43529692	43529692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	10	.	.	ENST00000408989.2:c.1540A>T	p.Ser514Cys	p.S514C	ENST00000408989	NM_173568.3	514	Agc/Tgc	0	1		UPI00006C2192	0	NA	ENST00000408910		ENSG00000177398	12560		37	2.525		HGNC	p.S442C		UMODL1		SNV							ENST00000400424	protein_coding	getma.org/?cm=var&var=hg19,21,43529692,A,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,SMART_domains:SM00179,Superfamily_domains:SSF57184		S/C		T	medium	1540/4878		getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=507&re=551&var=S514C	tolerated(0.07)	Q6L9N9_HUMAN				UMODL1,missense_variant,p.Ser442Cys,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Ser442Cys,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Ser514Cys,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Ser514Cys,ENST00000408910,NM_001004416.2;C21orf128,upstream_gene_variant,,ENST00000329015,;UMODL1,upstream_gene_variant,,ENST00000475047,;							MODERATE	1540/3957	S514C	UROL1_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000386147		CCDS42936.1			1	
EVC2	0	LGGM	GRCh37	4	5586503	5586503	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	10	.	.	ENST00000344408.5:c.2904T>A	p.Val968=	p.V968=	ENST00000344408	NM_147127.4	968	gtT/gtA	0	1	1	UPI00001910B5	0		ENST00000344408		ENSG00000173040	19747		29			HGNC	p.V888V		EVC2		SNV			1				ENST00000310917	protein_coding			hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		V		T		2958/4390				Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,synonymous_variant,p.=,ENST00000310917,NM_001166136.1;EVC2,synonymous_variant,p.=,ENST00000344408,NM_147127.4;EVC2,synonymous_variant,p.=,ENST00000344938,;EVC2,synonymous_variant,p.=,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;							LOW	2904/3927		LBN_HUMAN			Transcript			.	ENSP00000342144		CCDS3382.2			1	
TSC22D1	0	LGGM	GRCh37	13	45149104	45149104	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	28	10	.	.	ENST00000458659.2:c.1107T>C	p.Asn369=	p.N369=	ENST00000458659	NM_183422.3	369	aaT/aaC	0	1	1	UPI0000D61A6B	0		ENST00000458659		ENSG00000102804	16826		38			HGNC	p.N369N		TSC22D1		SNV							ENST00000458659	protein_coding			hmmpanther:PTHR12348,hmmpanther:PTHR12348:SF17		N		G		1598/4820				C9IZ15_HUMAN			YES	TSC22D1,synonymous_variant,p.=,ENST00000458659,NM_183422.3;TSC22D1,synonymous_variant,p.=,ENST00000501704,NM_001243799.1;TSC22D1,downstream_gene_variant,,ENST00000493016,;TSC22D1,upstream_gene_variant,,ENST00000460842,;TSC22D1,upstream_gene_variant,,ENST00000486464,;							LOW	1107/3222		T22D1_HUMAN			Transcript			.	ENSP00000397435		CCDS31966.1			1	
IQGAP3	0	LGGM	GRCh37	1	156518274	156518274	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	25	10	.	.	ENST00000361170.2:c.1999A>T	p.Thr667Ser	p.T667S	ENST00000361170	NM_178229.4	667	Aca/Tca	0	1	1	UPI000046FFDD	0	NA	ENST00000361170		ENSG00000183856	20669		35	1.06		HGNC	p.T667S		IQGAP3		SNV							ENST00000361170	protein_coding	getma.org/?cm=var&var=hg19,1,156518274,T,A&fts=all		hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10		T/S		A	low	2010/5988		getma.org/?cm=msa&ty=f&p=IQGA3_HUMAN&rb=550&re=731&var=T667S	tolerated(0.62)	F2Z2E2_HUMAN			YES	IQGAP3,missense_variant,p.Thr667Ser,ENST00000361170,NM_178229.4;IQGAP3,missense_variant,p.Thr624Ser,ENST00000491900,;							MODERATE	1999/4896	T667S	IQGA3_HUMAN			Transcript		benign(0.017)	.	ENSP00000354451		CCDS1144.1			1	
GRAMD4	0	LGGM	GRCh37	22	47022842	47022842	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	11	10	.	.	ENST00000406902.1:c.146A>T	p.Glu49Val	p.E49V	ENST00000406902		49	gAg/gTg	0	1		UPI0000161A59	0	NA	ENST00000361034		ENSG00000075240	29113		21	1.67		HGNC	p.E49V		GRAMD4		SNV							ENST00000406902	protein_coding	getma.org/?cm=var&var=hg19,22,47022842,A,T&fts=all		hmmpanther:PTHR16122		E/V		T	low	185/4316		getma.org/?cm=msa&ty=f&p=GRAM4_HUMAN&rb=1&re=200&var=E49V	deleterious(0)					GRAMD4,missense_variant,p.Glu49Val,ENST00000406902,;GRAMD4,missense_variant,p.Glu49Val,ENST00000361034,NM_015124.3;GRAMD4,missense_variant,p.Glu49Val,ENST00000447351,;GRAMD4,downstream_gene_variant,,ENST00000431155,;GRAMD4,intron_variant,,ENST00000490378,;							MODERATE	146/1737	E49V	GRAM4_HUMAN			Transcript		benign(0.089)	.	ENSP00000354313		CCDS33672.1			1	
OR5L1	0	LGGM	GRCh37	11	55579803	55579803	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	18	10	.	.	ENST00000333973.2:c.861T>A	p.Ser287=	p.S287=	ENST00000333973	NM_001004738.1	287	tcT/tcA	0	1	1	UPI0000041864	0		ENST00000333973		ENSG00000186117	8350		28			HGNC	p.S287S		OR5L1		SNV							ENST00000333973	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S		A		950/1099							YES	OR5L1,synonymous_variant,p.=,ENST00000333973,NM_001004738.1;							LOW	861/936		OR5L1_HUMAN			Transcript			.	ENSP00000335529		CCDS31509.1			1	
RASA3	0	LGGM	GRCh37	13	114762037	114762037	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	6	10	.	.	ENST00000334062.7:c.2111A>T	p.Asp704Val	p.D704V	ENST00000334062	NM_007368.2	704	gAc/gTc	0	1	1	UPI000000DBC1	0	NA	ENST00000334062		ENSG00000185989	20331		16	1.445		HGNC	p.D672V		RASA3		SNV							ENST00000389544	protein_coding	getma.org/?cm=var&var=hg19,13,114762037,T,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00779,Prints_domain:PR00402,PROSITE_profiles:PS51113,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF53,SMART_domains:SM00107,Superfamily_domains:SSF50729		D/V		A	low	2233/4191		getma.org/?cm=msa&ty=f&p=RASA3_HUMAN&rb=684&re=715&var=D704V	tolerated(0.06)	F8W6X8_HUMAN			YES	RASA3,missense_variant,p.Asp704Val,ENST00000334062,NM_007368.2;RASA3,missense_variant,p.Asp672Val,ENST00000389544,;							MODERATE	2111/2505	D704V	RASA3_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000335029		CCDS32016.1			1	
PAQR8	0	LGGM	GRCh37	6	52268421	52268421	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	66	10	.	.	ENST00000442253.2:c.410A>T	p.Glu137Val	p.E137V	ENST00000442253	NM_133367.4	137	gAg/gTg	0	1		UPI0000073877	0	NA	ENST00000360726		ENSG00000170915	15708		76	1.95		HGNC	p.E137V		PAQR8		SNV							ENST00000442253	protein_coding	getma.org/?cm=var&var=hg19,6,52268421,A,T&fts=all		hmmpanther:PTHR20855:SF22,hmmpanther:PTHR20855,Pfam_domain:PF03006		E/V		T	medium	587/4655		getma.org/?cm=msa&ty=f&p=MPRB_HUMAN&rb=70&re=297&var=E137V	deleterious(0.04)	D6RCM7_HUMAN				PAQR8,missense_variant,p.Glu137Val,ENST00000442253,NM_133367.4;PAQR8,missense_variant,p.Glu137Val,ENST00000360726,;PAQR8,downstream_gene_variant,,ENST00000512121,;							MODERATE	410/1065	E137V	MPRB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353953		CCDS4941.1			1	
ITLN2	0	LGGM	GRCh37	1	160915068	160915068	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	12	10	.	.	ENST00000368029.3:c.840A>T	p.Gly280=	p.G280=	ENST00000368029	NM_080878.2	280	ggA/ggT	0	1	1	UPI0000048F3E	0		ENST00000368029		ENSG00000158764	20599		22			HGNC	p.G280G		ITLN2		SNV							ENST00000368029	protein_coding			hmmpanther:PTHR16146,hmmpanther:PTHR16146:SF21		G		A		898/1151							YES	ITLN2,synonymous_variant,p.=,ENST00000368029,NM_080878.2;RP11-544M22.1,intron_variant,,ENST00000356006,;ITLN2,non_coding_transcript_exon_variant,,ENST00000494442,;							LOW	840/978		ITLN2_HUMAN			Transcript			.	ENSP00000357008		CCDS1212.1			1	
TM2D3	0	LGGM	GRCh37	15	102186974	102186974	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	10	.	.	ENST00000333202.3:c.456G>T	p.Gln152His	p.Q152H	ENST00000333202	NM_078474.2	152	caG/caT	0	1	1	UPI00001B02BE	0	NA	ENST00000333202		ENSG00000184277	24128		30	2.25		HGNC	p.Q87H		TM2D3		SNV							ENST00000561373	protein_coding	getma.org/?cm=var&var=hg19,15,102186974,C,A&fts=all		hmmpanther:PTHR21016,hmmpanther:PTHR21016:SF2		Q/H		A	medium	462/1381		getma.org/?cm=msa&ty=f&p=TM2D3_HUMAN&rb=1&re=181&var=Q152H	deleterious(0.01)	B3KT51_HUMAN			YES	TM2D3,missense_variant,p.Gln87His,ENST00000561373,;TM2D3,missense_variant,p.Gln152His,ENST00000333202,NM_078474.2;TM2D3,missense_variant,p.Gln152His,ENST00000559107,;TM2D3,missense_variant,p.Gln126His,ENST00000347970,NM_025141.3;TM2D3,missense_variant,p.Gln126His,ENST00000428002,;TM2D3,missense_variant,p.Gln96His,ENST00000558129,;RNU6-807P,downstream_gene_variant,,ENST00000516805,;TM2D3,downstream_gene_variant,,ENST00000560212,;TM2D3,3_prime_UTR_variant,,ENST00000560013,;TM2D3,3_prime_UTR_variant,,ENST00000558677,;TM2D3,non_coding_transcript_exon_variant,,ENST00000559024,;TM2D3,non_coding_transcript_exon_variant,,ENST00000560910,;TM2D3,upstream_gene_variant,,ENST00000559891,;TM2D3,downstream_gene_variant,,ENST00000561356,;							MODERATE	456/744	Q152H	TM2D3_HUMAN			Transcript		benign(0.396)	.	ENSP00000330433		CCDS10393.1			1	
C12orf55	0	LGGM	GRCh37	12	97045586	97045586	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	10	.	.	ENST00000524981.4:c.5093C>T	p.Ser1698Phe	p.S1698F	ENST00000524981		1698	tCt/tTt	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		26	1.845		HGNC	p.S1698F		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97045586,C,T&fts=all				S/F		T	low	5116/9766	1.99E-05	getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1580&re=1779&var=S1698F	deleterious(0)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Ser1698Phe,ENST00000524981,;C12orf55,downstream_gene_variant,,ENST00000550977,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	5093/9291	S1698F				Transcript		possibly_damaging(0.901)	.	ENSP00000431759	8.24E-06				1	
SLC9A4	0	LGGM	GRCh37	2	103136416	103136416	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	11	.	.	ENST00000295269.4:c.1818+2T>A		p.X606_splice	ENST00000295269	NM_001011552.3			0	1	1	UPI000047F996	0		ENST00000295269		ENSG00000180251	11077		31			HGNC	-		SLC9A4		SNV							ENST00000295269	protein_coding							A		-/4138							YES	SLC9A4,splice_donor_variant,,ENST00000295269,NM_001011552.3;							HIGH	1818/2397		SL9A4_HUMAN			Transcript			.	ENSP00000295269		CCDS33264.1			1	
VPS13C	0	LGGM	GRCh37	15	62276213	62276213	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	28	11	.	.	ENST00000261517.5:c.1722-2A>T		p.X574_splice	ENST00000261517	NM_020821.2			0	1	1	UPI000023B7D3	0		ENST00000261517		ENSG00000129003	23594		39			HGNC	-		VPS13C		SNV							ENST00000249837	protein_coding							A		-/13400				B4E2S9_HUMAN,B3KW10_HUMAN			YES	VPS13C,splice_acceptor_variant,,ENST00000261517,NM_020821.2;VPS13C,splice_acceptor_variant,,ENST00000249837,NM_017684.4;VPS13C,splice_acceptor_variant,,ENST00000395896,NM_001018088.2;VPS13C,splice_acceptor_variant,,ENST00000395898,NM_018080.3;VPS13C,splice_acceptor_variant,,ENST00000561258,;							HIGH	1722/11262		VP13C_HUMAN			Transcript			.	ENSP00000261517		CCDS32257.1			1	
SH3TC2	0	LGGM	GRCh37	5	148407987	148407987	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	11	.	.	ENST00000515425.1:c.1308A>T	p.Ser436=	p.S436=	ENST00000515425	NM_024577.3	436	tcA/tcT	0	1	1	UPI00001DFBEE	0		ENST00000515425		ENSG00000169247	29427		55			HGNC	p.S436S		SH3TC2		SNV			1				ENST00000504690	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2		S		A		1410/4059				B3KXB9_HUMAN			YES	SH3TC2,synonymous_variant,p.=,ENST00000515425,NM_024577.3;SH3TC2,synonymous_variant,p.=,ENST00000512049,;SH3TC2,synonymous_variant,p.=,ENST00000394358,;SH3TC2,5_prime_UTR_variant,,ENST00000538184,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000513340,;SH3TC2,downstream_gene_variant,,ENST00000503071,;SH3TC2,synonymous_variant,p.=,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000513604,;SH3TC2,3_prime_UTR_variant,,ENST00000511307,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;							LOW	1308/3867		S3TC2_HUMAN			Transcript			.	ENSP00000423660		CCDS4293.1			1	
FPR2	0	LGGM	GRCh37	19	52272342	52272342	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	35	11	.	.	ENST00000598776.1:c.431A>T	p.Lys144Met	p.K144M	ENST00000598776	NM_001462.3	144	aAg/aTg	0	1		UPI00000012D0	0	getma.org/pdb.php?prot=FPR2_HUMAN&from=43&to=302&var=K144M	ENST00000340023		ENSG00000171049	3827		46	1.415		HGNC	p.K144M		FPR2		SNV							ENST00000340023	protein_coding	getma.org/?cm=var&var=hg19,19,52272342,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF16,Superfamily_domains:SSF81321		K/M		T	low	825/2262		getma.org/?cm=msa&ty=f&p=FPR2_HUMAN&rb=43&re=302&var=K144M	deleterious(0.04)	M0R222_HUMAN,M0QZ89_HUMAN,M0QXD3_HUMAN				FPR2,missense_variant,p.Lys144Met,ENST00000598776,NM_001462.3;FPR2,missense_variant,p.Lys144Met,ENST00000340023,NM_001005738.1;FPR2,missense_variant,p.Lys144Met,ENST00000598953,;FPR1,intron_variant,,ENST00000594900,;FPR2,downstream_gene_variant,,ENST00000600258,;FPR2,downstream_gene_variant,,ENST00000599326,;FPR2,downstream_gene_variant,,ENST00000600722,;							MODERATE	431/1056	K144M	FPR2_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000340191		CCDS12840.1			1	
ZNF133	0	LGGM	GRCh37	20	18286365	18286365	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	34	11	.	.	ENST00000377671.3:c.35A>T	p.Gln12Leu	p.Q12L	ENST00000377671	NM_003434.4	12	cAg/cTg	0	1		UPI000013CBD0	0	getma.org/pdb.php?prot=ZN133_HUMAN&from=1&to=41&var=Q12L	ENST00000316358		ENSG00000125846	12917		45	1.96		HGNC	p.Q12L		ZNF133		SNV							ENST00000316358	protein_coding	getma.org/?cm=var&var=hg19,20,18286365,A,T&fts=all		Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF119,PROSITE_profiles:PS50805		Q/L		T	medium	132/2242		getma.org/?cm=msa&ty=f&p=ZN133_HUMAN&rb=1&re=41&var=Q12L	deleterious(0.02)	Q5JXW0_HUMAN,Q5JXV9_HUMAN,F5H289_HUMAN				ZNF133,missense_variant,p.Gln12Leu,ENST00000377671,NM_003434.4,NM_001282995.1,NM_001083330.2;ZNF133,missense_variant,p.Gln12Leu,ENST00000401790,NM_001282997.1;ZNF133,missense_variant,p.Gln15Leu,ENST00000396026,NM_001283002.1;ZNF133,missense_variant,p.Gln12Leu,ENST00000316358,NM_001283008.1,NM_001282999.1,NM_001282998.1,NM_001283001.1,NM_001283000.1;ZNF133,missense_variant,p.Gln12Leu,ENST00000425686,;ZNF133,missense_variant,p.Gln12Leu,ENST00000434018,;ZNF133,missense_variant,p.Gln12Leu,ENST00000360010,;ZNF133,5_prime_UTR_variant,,ENST00000402618,NM_001283004.1,NM_001283003.1;ZNF133,intron_variant,,ENST00000535822,NM_001283007.1,NM_001283006.1;ZNF133,intron_variant,,ENST00000538547,NM_001283005.1;							MODERATE	35/1965	Q12L	ZN133_HUMAN			Transcript		possibly_damaging(0.627)	.	ENSP00000346090		CCDS63234.1			1	
SBNO2	0	LGGM	GRCh37	19	1119123	1119123	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	7	11	.	.	ENST00000361757.3:c.1414G>A	p.Val472Ile	p.V472I	ENST00000361757	NM_014963.2	472	Gtc/Atc	0	1	1	UPI0000140680	0	NA	ENST00000361757		ENSG00000064932	29158		18	1.79		HGNC	p.V472I		SBNO2		SNV							ENST00000361757	protein_coding	getma.org/?cm=var&var=hg19,19,1119123,C,T&fts=all		Pfam_domain:PF13872,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF5		V/I		T	low	1652/4922		getma.org/?cm=msa&ty=f&p=SBNO2_HUMAN&rb=213&re=506&var=V472I	deleterious(0.02)	K7ERL2_HUMAN,K7ENA9_HUMAN			YES	SBNO2,missense_variant,p.Val472Ile,ENST00000361757,NM_014963.2;SBNO2,missense_variant,p.Val472Ile,ENST00000587024,;SBNO2,missense_variant,p.Val415Ile,ENST00000438103,NM_001100122.1;SBNO2,non_coding_transcript_exon_variant,,ENST00000592222,;SBNO2,non_coding_transcript_exon_variant,,ENST00000590446,;							MODERATE	1414/4101	V472I	SBNO2_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000354733		CCDS45894.1			1	
TTC21B	0	LGGM	GRCh37	2	166756367	166756367	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	39	11	.	.	ENST00000243344.7:c.2781A>G	p.Leu927=	p.L927=	ENST00000243344	NM_024753.4	927	ttA/ttG	0	1	1	UPI000020900A	0		ENST00000243344		ENSG00000123607	25660		50			HGNC	p.L927L		TTC21B		SNV			1				ENST00000243344	protein_coding			PROSITE_profiles:PS50293,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF1,Gene3D:1.25.40.10,Pfam_domain:PF14559,SMART_domains:SM00028,Superfamily_domains:SSF48452		L		C		2919/5482				B3KU32_HUMAN			YES	TTC21B,synonymous_variant,p.=,ENST00000243344,NM_024753.4;TTC21B,non_coding_transcript_exon_variant,,ENST00000484129,;							LOW	2781/3951		TT21B_HUMAN			Transcript			.	ENSP00000243344		CCDS33315.1			1	
PRF1	0	LGGM	GRCh37	10	72358602	72358602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	18	11	.	.	ENST00000441259.1:c.875T>A	p.Phe292Tyr	p.F292Y	ENST00000441259	NM_005041.4	292	tTc/tAc	0	1		UPI000013162B	0	getma.org/pdb.php?prot=PERF_HUMAN&from=147&to=367&var=F292Y	ENST00000373209		ENSG00000180644	9360		29	3.13		HGNC	p.F292Y		PRF1		SNV			1				ENST00000318971	protein_coding	getma.org/?cm=var&var=hg19,10,72358602,A,T&fts=all		PROSITE_profiles:PS51412,hmmpanther:PTHR19325:SF3,hmmpanther:PTHR19325,Pfam_domain:PF01823,SMART_domains:SM00457		F/Y		T	medium	994/2492		getma.org/?cm=msa&ty=f&p=PERF_HUMAN&rb=147&re=367&var=F292Y	deleterious(0)	S5S2F2_HUMAN,S5RDP5_HUMAN				PRF1,missense_variant,p.Phe292Tyr,ENST00000441259,NM_005041.4,NM_001083116.1;PRF1,missense_variant,p.Phe292Tyr,ENST00000373209,;							MODERATE	875/1668	F292Y	PERF_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362305		CCDS7305.1			1	
SDK2	0	LGGM	GRCh37	17	71411978	71411978	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	50	11	.	.	ENST00000392650.3:c.2340T>A	p.Ser780Arg	p.S780R	ENST00000392650	NM_001144952.1	780	agT/agA	0	1	1	UPI0000E5A088	0	getma.org/pdb.php?prot=SDK2_HUMAN&from=690&to=786&var=S780R	ENST00000392650		ENSG00000069188	19308		61	0.38		HGNC	p.S780R		SDK2		SNV							ENST00000388726	protein_coding	getma.org/?cm=var&var=hg19,17,71411978,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		S/R		T	neutral	2341/10723		getma.org/?cm=msa&ty=f&p=SDK2_HUMAN&rb=690&re=786&var=S780R	tolerated(1)				YES	SDK2,missense_variant,p.Ser780Arg,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Ser780Arg,ENST00000388726,;SDK2,upstream_gene_variant,,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;							MODERATE	2340/6519	S780R	SDK2_HUMAN			Transcript		benign(0.187)	.	ENSP00000376421		CCDS45769.1			1	
PCDHB15	0	LGGM	GRCh37	5	140626951	140626951	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	18	12	.	.	ENST00000231173.3:c.1805T>A	p.Leu602Gln	p.L602Q	ENST00000231173	NM_018935.2	602	cTg/cAg	0	1	1	UPI00001273E8	0	getma.org/pdb.php?prot=PCDBF_HUMAN&from=575&to=663&var=L602Q	ENST00000231173		ENSG00000113248	8686		30	3.33		HGNC	p.L602Q		PCDHB15		SNV							ENST00000231173	protein_coding	getma.org/?cm=var&var=hg19,5,140626951,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF97,SMART_domains:SM00112,Superfamily_domains:SSF49313		L/Q		A	medium	1805/2653		getma.org/?cm=msa&ty=f&p=PCDBF_HUMAN&rb=575&re=663&var=L602Q	deleterious_low_confidence(0)				YES	PCDHB15,missense_variant,p.Leu602Gln,ENST00000231173,NM_018935.2;							MODERATE	1805/2364	L602Q	PCDBF_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000231173		CCDS4257.1			1	
MPEG1	0	LGGM	GRCh37	11	58978629	58978629	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	31	12	.	.	ENST00000361050.3:c.1710T>A	p.Asp570Glu	p.D570E	ENST00000361050	NM_001039396.1	570	gaT/gaA	0	1	1	UPI0000049D9F	0	NA	ENST00000361050		ENSG00000197629	29619		43	1.9		HGNC	p.D570E		MPEG1		SNV							ENST00000361050	protein_coding	getma.org/?cm=var&var=hg19,11,58978629,A,T&fts=all		hmmpanther:PTHR31463,hmmpanther:PTHR31463:SF3		D/E		T	low	1796/4442		getma.org/?cm=msa&ty=f&p=MPEG1_HUMAN&rb=542&re=716&var=D570E	deleterious(0)				YES	MPEG1,missense_variant,p.Asp570Glu,ENST00000361050,NM_001039396.1;DTX4,downstream_gene_variant,,ENST00000227451,NM_015177.1;RN7SL42P,downstream_gene_variant,,ENST00000579786,;							MODERATE	1710/2151	D570E	MPEG1_HUMAN			Transcript		possibly_damaging(0.735)	.	ENSP00000354335		CCDS41650.1			1	
PCMTD1	0	LGGM	GRCh37	8	52758302	52758302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	28	12	.	.	ENST00000360540.5:c.329G>T	p.Gly110Val	p.G110V	ENST00000360540	NM_052937.3	110	gGg/gTg	0	1	1	UPI0000047CC0	0	getma.org/pdb.php?prot=PCMD1_HUMAN&from=9&to=224&var=G110V	ENST00000360540		ENSG00000168300	30483		40	3.35		HGNC	p.G110V		PCMTD1		SNV							ENST00000522514	protein_coding	getma.org/?cm=var&var=hg19,8,52758302,C,A&fts=all		hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Gene3D:3.40.50.150,Pfam_domain:PF01135,Superfamily_domains:SSF53335		G/V		A	medium	736/4252		getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=9&re=224&var=G110V	deleterious(0.01)				YES	PCMTD1,missense_variant,p.Gly110Val,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Gly110Val,ENST00000522514,;PCMTD1,missense_variant,p.Gly2Val,ENST00000519554,;PCMTD1,intron_variant,,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,downstream_gene_variant,,ENST00000521344,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519975,;							MODERATE	329/1074	G110V	PCMD1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000353739		CCDS6148.1			1	
CR2	0	LGGM	GRCh37	1	207653353	207653353	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	23	12	.	.	ENST00000367057.3:c.3143T>A	p.Phe1048Tyr	p.F1048Y	ENST00000367057	NM_001006658.2	1048	tTc/tAc	0	1		UPI000013D4F7	0	NA	ENST00000367058		ENSG00000117322	2336		35	0.695		HGNC	p.F927Y		CR2		SNV			1				ENST00000367059	protein_coding	getma.org/?cm=var&var=hg19,1,207653353,T,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		F/Y		A	neutral	3155/4063		getma.org/?cm=msa&ty=f&p=CR2_HUMAN&rb=969&re=1033&var=F989Y	deleterious_low_confidence(0.04)					CR2,missense_variant,p.Phe1048Tyr,ENST00000367057,NM_001006658.2;CR2,missense_variant,p.Phe989Tyr,ENST00000367058,NM_001877.4;CR2,missense_variant,p.Phe927Tyr,ENST00000367059,;CR2,missense_variant,p.Phe962Tyr,ENST00000458541,;							MODERATE	2966/3102	F989Y	CR2_HUMAN			Transcript		benign(0.34)	.	ENSP00000356025		CCDS1478.1			1	
MFAP5	0	LGGM	GRCh37	12	8803133	8803133	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	12	.	.	ENST00000359478.2:c.300G>T	p.Pro100=	p.P100=	ENST00000359478	NM_003480.2	100	ccG/ccT	0	1	1	UPI000012F034	0		ENST00000359478		ENSG00000197614	29673		36			HGNC	p.P90P	COSM380853	MFAP5		SNV			1			1	ENST00000544211	protein_coding			Pfam_domain:PF05507,hmmpanther:PTHR16485:SF5,hmmpanther:PTHR16485		P		A		488/2845				H0YGS3_HUMAN,F5H1C0_HUMAN			YES	MFAP5,synonymous_variant,p.=,ENST00000359478,NM_003480.2;MFAP5,synonymous_variant,p.=,ENST00000433590,;MFAP5,synonymous_variant,p.=,ENST00000396549,;MFAP5,synonymous_variant,p.=,ENST00000543369,;MFAP5,synonymous_variant,p.=,ENST00000535411,;MFAP5,synonymous_variant,p.=,ENST00000540087,;MFAP5,synonymous_variant,p.=,ENST00000543467,;MFAP5,intron_variant,,ENST00000535336,;MFAP5,downstream_gene_variant,,ENST00000544889,;MFAP5,non_coding_transcript_exon_variant,,ENST00000538694,;MFAP5,downstream_gene_variant,,ENST00000538107,;MFAP5,synonymous_variant,p.=,ENST00000544211,;MFAP5,synonymous_variant,p.=,ENST00000537009,;MFAP5,non_coding_transcript_exon_variant,,ENST00000534833,;MFAP5,downstream_gene_variant,,ENST00000537128,;					1		LOW	300/522		MFAP5_HUMAN			Transcript			.	ENSP00000352455		CCDS8595.1			1	
PSD3	0	LGGM	GRCh37	8	18658845	18658845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	12	.	.	ENST00000327040.8:c.1958A>T	p.Glu653Val	p.E653V	ENST00000327040	NM_015310.3	653	gAg/gTg	0	1		UPI0001AE6EBA	0	getma.org/pdb.php?prot=PSD3_HUMAN&from=549&to=736&var=E653V	ENST00000440756		ENSG00000156011	19093		29	2.74		HGNC	p.E119V		PSD3		SNV							ENST00000286485	protein_coding	getma.org/?cm=var&var=hg19,8,18658845,T,A&fts=all		Gene3D:1.10.1000.11,Pfam_domain:PF01369,PROSITE_profiles:PS50190,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF106,SMART_domains:SM00222,Superfamily_domains:SSF48425		E/V		A	medium	2061/11693		getma.org/?cm=msa&ty=f&p=PSD3_HUMAN&rb=549&re=736&var=E653V	deleterious(0.01)	J3KQK0_HUMAN				PSD3,missense_variant,p.Glu653Val,ENST00000440756,;PSD3,missense_variant,p.Glu653Val,ENST00000327040,NM_015310.3;PSD3,missense_variant,p.Glu588Val,ENST00000523619,;PSD3,missense_variant,p.Glu119Val,ENST00000286485,NM_206909.2;PSD3,missense_variant,p.Glu94Val,ENST00000519851,;PSD3,missense_variant,p.Glu86Val,ENST00000520858,;PSD3,downstream_gene_variant,,ENST00000521027,;PSD3,non_coding_transcript_exon_variant,,ENST00000519653,;PSD3,missense_variant,p.Glu119Val,ENST00000518315,;PSD3,3_prime_UTR_variant,,ENST00000517971,;PSD3,non_coding_transcript_exon_variant,,ENST00000518303,;PSD3,non_coding_transcript_exon_variant,,ENST00000518963,;PSD3,downstream_gene_variant,,ENST00000519633,;							MODERATE	1958/3150	E653V				Transcript		probably_damaging(1)	.	ENSP00000401704					1	
TGFBI	0	LGGM	GRCh37	5	135382148	135382148	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	12	.	.	ENST00000442011.2:c.423C>T	p.Phe141=	p.F141=	ENST00000442011	NM_000358.2	141	ttC/ttT	0	1	1	UPI0000000C6A	0		ENST00000442011		ENSG00000120708	11771		55			HGNC	p.F141F	rs779817855,COSM3786829	TGFBI		SNV			1			0,1	ENST00000305126	protein_coding			PROSITE_profiles:PS50213,hmmpanther:PTHR10900:SF74,hmmpanther:PTHR10900,Pfam_domain:PF02469,Gene3D:2.30.180.10,SMART_domains:SM00554,PIRSF_domain:PIRSF016553,Superfamily_domains:SSF82153		F		T		584/2804				D6RBX4_HUMAN,C7FFS5_HUMAN			YES	TGFBI,synonymous_variant,p.=,ENST00000442011,NM_000358.2;TGFBI,synonymous_variant,p.=,ENST00000305126,;TGFBI,upstream_gene_variant,,ENST00000514554,;TGFBI,upstream_gene_variant,,ENST00000604555,;TGFBI,upstream_gene_variant,,ENST00000508767,;TGFBI,downstream_gene_variant,,ENST00000504185,;TGFBI,synonymous_variant,p.=,ENST00000507018,;TGFBI,non_coding_transcript_exon_variant,,ENST00000515433,;TGFBI,non_coding_transcript_exon_variant,,ENST00000506699,;TGFBI,upstream_gene_variant,,ENST00000509749,;					0,1		LOW	423/2052		BGH3_HUMAN			Transcript			.	ENSP00000416330		CCDS47266.1			1	
DZIP3	0	LGGM	GRCh37	3	108373015	108373015	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	58	12	.	.	ENST00000361582.3:c.2057A>T	p.Glu686Val	p.E686V	ENST00000361582	NM_014648.3	686	gAg/gTg	0	1	1	UPI000006E7D4	0	NA	ENST00000361582		ENSG00000198919	30938		70	1.245		HGNC	p.E686V		DZIP3		SNV							ENST00000463306	protein_coding	getma.org/?cm=var&var=hg19,3,108373015,A,T&fts=all		hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15		E/V		T	low	2287/5350		getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=571&re=1009&var=E686V	deleterious_low_confidence(0)	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,missense_variant,p.Glu686Val,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Glu686Val,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							MODERATE	2057/3627	E686V	DZIP3_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000355028		CCDS2952.1			1	
BTK	0	LGGM	GRCh37	X	100615581	100615581	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	15	12	.	.	ENST00000308731.7:c.751T>A	p.Trp251Arg	p.W251R	ENST00000308731	NM_000061.2	251	Tgg/Agg	0	1	1	UPI0000126B16	0	getma.org/pdb.php?prot=BTK_HUMAN&from=220&to=266&var=W251R	ENST00000308731		ENSG00000010671	1133		27	4.415		HGNC	p.W251R		BTK		SNV			1				ENST00000372880	protein_coding	getma.org/?cm=var&var=hg19,X,100615581,A,T&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF92,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF55550,Superfamily_domains:SSF50044		W/R		T	high	915/2579		getma.org/?cm=msa&ty=f&p=BTK_HUMAN&rb=220&re=266&var=W251R	deleterious(0.01)	Q9P0L4_HUMAN,Q3MS96_HUMAN			YES	BTK,missense_variant,p.Trp251Arg,ENST00000308731,NM_000061.2,NM_001287344.1;BTK,missense_variant,p.Trp251Arg,ENST00000372880,NM_001287345.1;BTK,downstream_gene_variant,,ENST00000464006,;BTK,upstream_gene_variant,,ENST00000478995,;BTK,upstream_gene_variant,,ENST00000470329,;							MODERATE	751/1980	W251R	BTK_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000308176		CCDS14482.1			1	
CYP19A1	0	LGGM	GRCh37	15	51514531	51514531	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	12	.	.	ENST00000396402.1:c.628+15A>T		*210*	ENST00000396402	NM_000103.3			0	1		UPI000013D0D7	0		ENST00000260433		ENSG00000137869	2594		31			HGNC	p.T215S		CYP19A1		SNV			1				ENST00000405913	protein_coding							A		-/4409				Q16449_HUMAN,H0YLS2_HUMAN,H0YLP1_HUMAN,H0YKN1_HUMAN,E9PGZ6_HUMAN,E7EQ08_HUMAN,E7EPL6_HUMAN				CYP19A1,missense_variant,p.Thr215Ser,ENST00000405913,;CYP19A1,missense_variant,p.Thr215Ser,ENST00000557858,;CYP19A1,intron_variant,,ENST00000396402,NM_000103.3;CYP19A1,intron_variant,,ENST00000260433,;CYP19A1,intron_variant,,ENST00000396404,NM_031226.2;CYP19A1,intron_variant,,ENST00000559878,;CYP19A1,intron_variant,,ENST00000453807,;CYP19A1,intron_variant,,ENST00000558328,;CYP19A1,intron_variant,,ENST00000561075,;CYP19A1,downstream_gene_variant,,ENST00000559980,;CYP19A1,downstream_gene_variant,,ENST00000405011,;CYP19A1,downstream_gene_variant,,ENST00000559646,;RP11-108K3.1,intron_variant,,ENST00000559909,;CYP19A1,upstream_gene_variant,,ENST00000478421,;CYP19A1,intron_variant,,ENST00000439712,;CYP19A1,intron_variant,,ENST00000557934,;CYP19A1,intron_variant,,ENST00000558066,;							MODIFIER	-/1512		CP19A_HUMAN			Transcript			.	ENSP00000260433		CCDS10139.1			1	
SORCS2	0	LGGM	GRCh37	4	7728574	7728574	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	22	12	.	.	ENST00000507866.2:c.2813T>C	p.Val938Ala	p.V938A	ENST00000507866	NM_020777.2	938	gTg/gCg	0	1	1	UPI0000EE6E4F	0	NA	ENST00000507866		ENSG00000184985	16698		34	2.35		HGNC	p.V938A		SORCS2		SNV							ENST00000507866	protein_coding	getma.org/?cm=var&var=hg19,4,7728574,T,C&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9		V/A		C	medium	2922/6152		getma.org/?cm=msa&ty=f&p=SORC2_HUMAN&rb=864&re=1063&var=V938A	deleterious(0)				YES	SORCS2,missense_variant,p.Val938Ala,ENST00000507866,NM_020777.2;SORCS2,missense_variant,p.Val766Ala,ENST00000329016,;							MODERATE	2813/3480	V938A	SORC2_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000422185		CCDS47008.1			1	
NOM1	0	LGGM	GRCh37	7	156761888	156761888	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	25	12	.	.	ENST00000275820.3:c.2406A>T	p.Thr802=	p.T802=	ENST00000275820	NM_138400.1	802	acA/acT	0	1	1	UPI000020E71F	0		ENST00000275820		ENSG00000146909	13244		37			HGNC	p.T802T		NOM1		SNV							ENST00000275820	protein_coding			hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034		T		T		2421/6077							YES	NOM1,splice_region_variant,p.=,ENST00000275820,NM_138400.1;NOM1,splice_region_variant,,ENST00000486131,;NOM1,non_coding_transcript_exon_variant,,ENST00000485661,;NOM1,downstream_gene_variant,,ENST00000472491,;							LOW	2406/2583		NOM1_HUMAN			Transcript			.	ENSP00000275820		CCDS34787.1			1	
SMC1B	0	LGGM	GRCh37	22	45804756	45804756	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	52	13	.	.	ENST00000357450.4:c.133C>A	p.Leu45Ile	p.L45I	ENST00000357450	NM_148674.3	45	Ctt/Att	0	1	1	UPI000042146E	0	getma.org/pdb.php?prot=SMC1B_HUMAN&from=3&to=1207&var=L45I	ENST00000357450		ENSG00000077935	11112		65	0.105		HGNC	p.L45I		SMC1B		SNV							ENST00000357450	protein_coding	getma.org/?cm=var&var=hg19,22,45804756,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF147,Superfamily_domains:SSF52540,Superfamily_domains:SSF52540		L/I		T	neutral	133/4201		getma.org/?cm=msa&ty=f&p=SMC1B_HUMAN&rb=3&re=1207&var=L45I	tolerated(0.92)				YES	SMC1B,missense_variant,p.Leu45Ile,ENST00000357450,NM_148674.3;SMC1B,missense_variant,p.Leu45Ile,ENST00000404354,;RIBC2,upstream_gene_variant,,ENST00000342894,;RIBC2,upstream_gene_variant,,ENST00000538017,NM_015653.4;							MODERATE	133/3708	L45I	SMC1B_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000350036		CCDS43027.1			1	
PRKD1	0	LGGM	GRCh37	14	30105574	30105574	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	25	13	.	.	ENST00000331968.5:c.1112C>T	p.Ala371Val	p.A371V	ENST00000331968	NM_002742.2	371	gCa/gTa	0	1	1	UPI0000456761	0	NA	ENST00000331968		ENSG00000184304	9407		38	0		HGNC	p.A371V		PRKD1		SNV			1				ENST00000331968	protein_coding	getma.org/?cm=var&var=hg19,14,30105574,G,A&fts=all		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968		A/V		A	neutral	1342/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=324&re=400&var=A371V	tolerated(0.57)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Ala371Val,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Ala379Val,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000546371,;PRKD1,downstream_gene_variant,,ENST00000551644,;PRKD1,downstream_gene_variant,,ENST00000547441,;PRKD1,downstream_gene_variant,,ENST00000468370,;							MODERATE	1112/2739	A371V	KPCD1_HUMAN			Transcript		benign(0.001)	.	ENSP00000333568		CCDS9637.1			1	
MEF2D	0	LGGM	GRCh37	1	156438716	156438716	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	13	.	.	ENST00000348159.4:c.1103A>T	p.Gln368Leu	p.Q368L	ENST00000348159	NM_005920.3	368	cAg/cTg	0	1	1	UPI000012EEB6	0	NA	ENST00000348159		ENSG00000116604	6997		32	0		HGNC	p.Q361L		MEF2D		SNV							ENST00000360595	protein_coding	getma.org/?cm=var&var=hg19,1,156438716,T,A&fts=all		hmmpanther:PTHR11945,hmmpanther:PTHR11945:SF23,Low_complexity_(Seg):seg		Q/L		A	neutral	1584/5965		getma.org/?cm=msa&ty=f&p=MEF2D_HUMAN&rb=356&re=521&var=Q368L	tolerated(0.09)				YES	MEF2D,missense_variant,p.Gln368Leu,ENST00000348159,NM_005920.3;MEF2D,missense_variant,p.Gln367Leu,ENST00000340875,;MEF2D,missense_variant,p.Gln361Leu,ENST00000368240,;MEF2D,missense_variant,p.Gln322Leu,ENST00000353795,;MEF2D,missense_variant,p.Gln360Leu,ENST00000464356,;MEF2D,missense_variant,p.Gln361Leu,ENST00000360595,NM_001271629.1;MEF2D,3_prime_UTR_variant,,ENST00000475587,;							MODERATE	1103/1566	Q368L	MEF2D_HUMAN			Transcript		benign(0.014)	.	ENSP00000271555		CCDS1143.1			1	
CLCA4	0	LGGM	GRCh37	1	87043631	87043631	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	13	.	.	ENST00000370563.3:c.1998A>T	p.Thr666=	p.T666=	ENST00000370563	NM_012128.3	666	acA/acT	0	1	1	UPI00000389E8	0		ENST00000370563		ENSG00000016602	2018		43			HGNC	p.T666T		CLCA4		SNV			1				ENST00000370563	protein_coding			hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,TIGRFAM_domain:TIGR00868		T		T		2040/3211				Q9NXP1_HUMAN			YES	CLCA4,synonymous_variant,p.=,ENST00000370563,NM_012128.3;CLCA4,downstream_gene_variant,,ENST00000263723,;RP4-651E10.4,intron_variant,,ENST00000456587,;CLCA4,downstream_gene_variant,,ENST00000496322,;							LOW	1998/2760		CLCA4_HUMAN			Transcript			.	ENSP00000359594		CCDS41355.1			1	
GABBR2	0	LGGM	GRCh37	9	101073411	101073411	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	12	13	.	.	ENST00000259455.2:c.1970T>A	p.Leu657His	p.L657H	ENST00000259455	NM_005458.7	657	cTt/cAt	0	1	1	UPI0000035832	0	NA	ENST00000259455		ENSG00000136928	4507		25	2.63		HGNC	p.L657H		GABBR2		SNV							ENST00000259455	protein_coding	getma.org/?cm=var&var=hg19,9,101073411,A,T&fts=all		Pfam_domain:PF00003,Prints_domain:PR01176,PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34,Transmembrane_helices:TMhelix		L/H		T	medium	2430/5761		getma.org/?cm=msa&ty=f&p=GABR2_HUMAN&rb=491&re=747&var=L657H	deleterious(0)	H9NIL8_HUMAN			YES	GABBR2,missense_variant,p.Leu657His,ENST00000259455,NM_005458.7;							MODERATE	1970/2826	L657H	GABR2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000259455		CCDS6736.1			1	
SFRP4	0	LGGM	GRCh37	7	37949221	37949221	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	59	13	.	.	ENST00000436072.2:c.853A>G	p.Ile285Val	p.I285V	ENST00000436072	NM_003014.3	285	Ata/Gta	0	1	1	UPI000004ECBF	0	NA	ENST00000436072		ENSG00000106483	10778		72	0		HGNC	p.I285V		SFRP4		SNV							ENST00000436072	protein_coding	getma.org/?cm=var&var=hg19,7,37949221,T,C&fts=all		Gene3D:2.40.50.120,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01759,PROSITE_profiles:PS50189,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF7,SMART_domains:SM00643		I/V		C	neutral	1231/2957		getma.org/?cm=msa&ty=f&p=SFRP4_HUMAN&rb=188&re=289&var=I285V	deleterious(0.01)				YES	SFRP4,missense_variant,p.Ile285Val,ENST00000436072,NM_003014.3;EPDR1,intron_variant,,ENST00000476620,;SFRP4,downstream_gene_variant,,ENST00000447200,;SFRP4,splice_region_variant,,ENST00000478975,;							MODERATE	853/1041	I285V	SFRP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000410715		CCDS5453.1			1	
ERC1	0	LGGM	GRCh37	12	1250816	1250816	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	29	13	.	.	ENST00000397203.2:c.1600A>T	p.Lys534Ter	p.K534*	ENST00000397203		534	Aag/Tag	0	1		UPI000007479C	0	NA	ENST00000360905		ENSG00000082805	17072		42	0		HGNC	p.K534X		ERC1		SNV			1				ENST00000589028	protein_coding	getma.org/?cm=var&var=hg19,12,1250816,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Superfamily_domains:SSF57997,Superfamily_domains:SSF90257		K/*		T	NA	1781/5789		NA		K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,stop_gained,p.Lys534Ter,ENST00000397203,;ERC1,stop_gained,p.Lys506Ter,ENST00000543086,NM_178039.2;ERC1,stop_gained,p.Lys534Ter,ENST00000589028,NM_178040.2;ERC1,stop_gained,p.Lys534Ter,ENST00000355446,;ERC1,stop_gained,p.Lys534Ter,ENST00000360905,;ERC1,stop_gained,p.Lys534Ter,ENST00000546231,;ERC1,non_coding_transcript_exon_variant,,ENST00000536573,;ERC1,stop_gained,p.Lys506Ter,ENST00000440394,;ERC1,stop_gained,p.Lys506Ter,ENST00000347735,;ERC1,stop_gained,p.Lys534Ter,ENST00000542302,;ERC1,stop_gained,p.Lys234Ter,ENST00000545948,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,non_coding_transcript_exon_variant,,ENST00000541503,;							HIGH	1600/3351	K534*	RB6I2_HUMAN			Transcript			.	ENSP00000354158		CCDS8508.1			1	
KDM3B	0	LGGM	GRCh37	5	137715271	137715271	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	14	.	.	ENST00000314358.5:c.581-2A>T		p.X194_splice	ENST00000314358	NM_016604.3			0	1	1	UPI000020C6A8	0		ENST00000314358		ENSG00000120733	1337		41			HGNC	-		KDM3B		SNV							ENST00000314358	protein_coding							T		-/6813				F5H275_HUMAN			YES	KDM3B,splice_acceptor_variant,,ENST00000314358,NM_016604.3;KDM3B,splice_acceptor_variant,,ENST00000510866,;KDM3B,splice_acceptor_variant,,ENST00000512928,;							HIGH	581/5286		KDM3B_HUMAN			Transcript			.	ENSP00000326563		CCDS34242.1			1	
DNAH10	0	LGGM	GRCh37	12	124272386	124272386	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	23	14	.	.	ENST00000409039.3:c.1274A>T	p.Glu425Val	p.E425V	ENST00000409039	NM_207437.3	425	gAa/gTa	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		37	2.025		HGNC	p.E425V		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124272386,A,T&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		E/V		T	medium	1299/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=241&re=544&var=E425V					YES	DNAH10,missense_variant,p.Glu425Val,ENST00000409039,NM_207437.3;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;							MODERATE	1274/13416	E425V	DYH10_HUMAN			Transcript		benign(0.141)	.	ENSP00000386770		CCDS9255.2			1	
SHISA9	0	LGGM	GRCh37	16	13297343	13297343	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	14	14	.	.	ENST00000424107.3:c.784A>T	p.Asn262Tyr	p.N262Y	ENST00000424107		262	Aac/Tac	0	1		UPI0001930562	0	NA	ENST00000558583		ENSG00000237515	37231		28	1.39		HGNC	p.N262Y		SHISA9		SNV							ENST00000424107	protein_coding	getma.org/?cm=var&var=hg19,16,13297343,A,T&fts=all		hmmpanther:PTHR31774:SF3,hmmpanther:PTHR31774		N/Y		T	low	1229/6726		getma.org/?cm=msa&ty=f&p=SHSA9_HUMAN&rb=255&re=424&var=N262Y	tolerated(0.24)	H0YNH4_HUMAN				SHISA9,missense_variant,p.Asn303Tyr,ENST00000558583,NM_001145204.2;SHISA9,missense_variant,p.Asn262Tyr,ENST00000424107,;AC009134.1,non_coding_transcript_exon_variant,,ENST00000571939,;SHISA9,non_coding_transcript_exon_variant,,ENST00000566106,;							MODERATE	907/1398	N262Y				Transcript		probably_damaging(0.976)	.	ENSP00000454014					1	
BAAT	0	LGGM	GRCh37	9	104133686	104133686	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	11	14	.	.	ENST00000259407.2:c.1A>G	p.Met1?	p.M1?	ENST00000259407	NM_001127610.1	1	Atg/Gtg	0	1	1	UPI00000715D7	0	NA	ENST00000259407		ENSG00000136881	932		25	0		HGNC	p.M1V		BAAT		SNV			1				ENST00000259407	protein_coding	getma.org/?cm=var&var=hg19,9,104133686,T,C&fts=all		PIRSF_domain:PIRSF016521,hmmpanther:PTHR10824:SF1,hmmpanther:PTHR10824		M/V		C	NA	110/3377		http://getma.org/?cm=msa&ty=f&p=BAAT_HUMAN&rb=1&re=42&var=M1V	tolerated(0.06)				YES	BAAT,start_lost,p.Met1?,ENST00000259407,NM_001127610.1,NM_001701.3;BAAT,start_lost,p.Met1?,ENST00000395051,;FYTTD1P1,downstream_gene_variant,,ENST00000424250,;							HIGH	1/1257	M1V	BAAT_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000259407		CCDS6752.1			1	
ZNF844	0	LGGM	GRCh37	19	12187831	12187831	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	31	14	.	.	ENST00000439326.3:c.1896A>T	p.Thr632=	p.T632=	ENST00000439326	NM_001136501.1	632	acA/acT	0	1	1	UPI0000185F5D	0		ENST00000439326		ENSG00000223547	25932		45			HGNC	p.T632T		ZNF844		SNV							ENST00000439326	protein_coding					T		T		2071/6620				F8VS19_HUMAN			YES	ZNF844,synonymous_variant,p.=,ENST00000439326,NM_001136501.1;ZNF844,3_prime_UTR_variant,,ENST00000441304,;ZNF844,downstream_gene_variant,,ENST00000550826,;							LOW	1896/2001		ZN844_HUMAN			Transcript			.	ENSP00000392024		CCDS45985.1			1	
IMPG1	0	LGGM	GRCh37	6	76657129	76657129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	33	14	.	.	ENST00000369950.3:c.1946T>A	p.Leu649His	p.L649H	ENST00000369950	NM_001563.2	649	cTc/cAc	0	1	1	UPI0000073F12	0	NA	ENST00000369950		ENSG00000112706	6055		47	1.59		HGNC	p.L649H		IMPG1		SNV			1				ENST00000369950	protein_coding	getma.org/?cm=var&var=hg19,6,76657129,A,T&fts=all		PROSITE_profiles:PS50024,hmmpanther:PTHR12199,Gene3D:1ivzA00,Pfam_domain:PF01390,SMART_domains:SM00200,Superfamily_domains:0047452		L/H		T	low	2136/3558		getma.org/?cm=msa&ty=f&p=IMPG1_HUMAN&rb=571&re=675&var=L649H	deleterious(0)	H0UI08_HUMAN			YES	IMPG1,missense_variant,p.Leu649His,ENST00000369950,NM_001563.2,NM_001282368.1;IMPG1,3_prime_UTR_variant,,ENST00000369963,;							MODERATE	1946/2394	L649H	IMPG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358966		CCDS4985.1			1	
USP20	0	LGGM	GRCh37	9	132627637	132627637	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	9	14	.	.	ENST00000315480.4:c.667A>G	p.Met223Val	p.M223V	ENST00000315480		223	Atg/Gtg	0	1	1	UPI000013D050	0	getma.org/pdb.php?prot=UBP20_HUMAN&from=142&to=682&var=M223V	ENST00000315480		ENSG00000136878	12619	0.000173	23	1.545		HGNC	p.M223V	rs754300902	USP20		SNV							ENST00000358355	protein_coding	getma.org/?cm=var&var=hg19,9,132627637,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF402,Pfam_domain:PF00443,Superfamily_domains:SSF54001		M/V		G	low	825/4458		getma.org/?cm=msa&ty=f&p=UBP20_HUMAN&rb=142&re=682&var=M223V	tolerated(0.15)	Q9UQN9_HUMAN			YES	USP20,missense_variant,p.Met223Val,ENST00000315480,;USP20,missense_variant,p.Met223Val,ENST00000358355,NM_001008563.4;USP20,missense_variant,p.Met223Val,ENST00000372429,NM_006676.7,NM_001110303.3;USP20,upstream_gene_variant,,ENST00000474895,;USP20,upstream_gene_variant,,ENST00000491731,;	0.000348						MODERATE	667/2745	M223V	UBP20_HUMAN			Transcript		benign(0.118)	.	ENSP00000313811	4.13E-05	CCDS43892.1			1	
PLAGL1	0	LGGM	GRCh37	6	144263492	144263492	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	23	14	.	.	ENST00000360537.2:c.461A>T	p.Lys154Met	p.K154M	ENST00000360537		154	aAg/aTg	0	1		UPI000006F274	0	NA	ENST00000354765		ENSG00000118495	9046		37	1.355		HGNC	p.K102M		PLAGL1		SNV			1				ENST00000437412	protein_coding	getma.org/?cm=var&var=hg19,6,144263492,T,A&fts=all		hmmpanther:PTHR10032:SF125,hmmpanther:PTHR10032,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		K/M		A	low	1293/3346		getma.org/?cm=msa&ty=f&p=PLAL1_HUMAN&rb=74&re=155&var=K154M	deleterious(0)	Q68DN7_HUMAN,Q5TFH3_HUMAN,A1YLA1_HUMAN				PLAGL1,missense_variant,p.Lys154Met,ENST00000360537,;PLAGL1,missense_variant,p.Lys154Met,ENST00000429150,NM_001080952.1;PLAGL1,missense_variant,p.Lys154Met,ENST00000392309,NM_006718.3,NM_001080953.1;PLAGL1,missense_variant,p.Lys154Met,ENST00000416623,NM_001080954.1;PLAGL1,missense_variant,p.Lys154Met,ENST00000354765,;PLAGL1,missense_variant,p.Lys154Met,ENST00000444202,NM_001080951.1;PLAGL1,missense_variant,p.Lys102Met,ENST00000392307,NM_002656.3,NM_001080956.1;PLAGL1,missense_variant,p.Lys154Met,ENST00000367571,;PLAGL1,missense_variant,p.Lys102Met,ENST00000437412,NM_001080955.1;PLAGL1,missense_variant,p.Lys102Met,ENST00000367572,;PLAGL1,missense_variant,p.Lys102Met,ENST00000417959,;ZC2HC1B,downstream_gene_variant,,ENST00000237275,NM_001013623.2;ZC2HC1B,downstream_gene_variant,,ENST00000539295,;ZC2HC1B,downstream_gene_variant,,ENST00000454207,;							MODERATE	461/1392	K154M	PLAL1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000346810		CCDS5202.1			1	
RYR1	0	LGGM	GRCh37	19	39001393	39001393	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	35	14	.	.	ENST00000359596.3:c.9094T>A	p.Ser3032Thr	p.S3032T	ENST00000359596		3032	Tct/Act	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		49	2.06		HGNC	p.S3032T		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,39001393,T,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		S/T		A	medium	9094/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=2943&re=3142&var=S3032T		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Ser3032Thr,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Ser3032Thr,ENST00000360985,;RYR1,missense_variant,p.Ser3032Thr,ENST00000359596,;RYR1,upstream_gene_variant,,ENST00000599547,;RYR1,missense_variant,p.Ser850Thr,ENST00000594335,;							MODERATE	9094/15117	S3032T	RYR1_HUMAN			Transcript		benign(0.018)	.	ENSP00000352608		CCDS33011.1			1	
PABPC5	0	LGGM	GRCh37	X	90691688	90691688	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	9	14	.	.	ENST00000312600.3:c.1112T>A	p.Leu371Gln	p.L371Q	ENST00000312600	NM_080832.2	371	cTg/cAg	0	1	1	UPI0000087790	0	getma.org/pdb.php?prot=PABP5_HUMAN&from=304&to=372&var=L371Q	ENST00000312600		ENSG00000174740	13629		23	3.98		HGNC	p.L371Q		PABPC5		SNV							ENST00000312600	protein_coding	getma.org/?cm=var&var=hg19,X,90691688,T,A&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		L/Q		A	high	1326/3221		getma.org/?cm=msa&ty=f&p=PABP5_HUMAN&rb=304&re=372&var=L371Q	deleterious(0)	Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,missense_variant,p.Leu371Gln,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Leu207Gln,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;							MODERATE	1112/1149	L371Q	PABP5_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000308012		CCDS14460.1			1	
PCDHGA7	0	LGGM	GRCh37	5	140763272	140763272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	14	.	.	ENST00000518325.1:c.806T>A	p.Leu269Gln	p.L269Q	ENST00000518325	NM_018920.2	269	cTg/cAg	0	1	1	UPI000007146F	0	getma.org/pdb.php?prot=PCDG7_HUMAN&from=247&to=338&var=L269Q	ENST00000518325		ENSG00000253537	8705		30	0.535		HGNC	p.L269Q		PCDHGA7		SNV							ENST00000518325	protein_coding	getma.org/?cm=var&var=hg19,5,140763272,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF56,SMART_domains:SM00112,Superfamily_domains:SSF49313		L/Q		A	neutral	806/4605		getma.org/?cm=msa&ty=f&p=PCDG7_HUMAN&rb=247&re=338&var=L269Q	tolerated_low_confidence(0.14)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA7,missense_variant,p.Leu269Gln,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;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,upstream_gene_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;							MODERATE	806/2799	L269Q	PCDG7_HUMAN			Transcript		benign(0.014)	.	ENSP00000430024		CCDS54927.1			1	
PCSK1	0	LGGM	GRCh37	5	95735838	95735838	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	45	14	.	.	ENST00000311106.3:c.1249T>A	p.Tyr417Asn	p.Y417N	ENST00000311106	NM_000439.4	417	Tat/Aat	0	1	1	UPI000013F0F5	0	getma.org/pdb.php?prot=NEC1_HUMAN&from=162&to=451&var=Y417N	ENST00000311106		ENSG00000175426	8743		59	0.41		HGNC	p.Y417N		PCSK1		SNV			1				ENST00000311106	protein_coding	getma.org/?cm=var&var=hg19,5,95735838,A,T&fts=all		hmmpanther:PTHR10795:SF343,hmmpanther:PTHR10795,Gene3D:3.40.50.200,Pfam_domain:PF00082,Superfamily_domains:SSF52743		Y/N		T	neutral	1487/5086		getma.org/?cm=msa&ty=f&p=NEC1_HUMAN&rb=162&re=451&var=Y417N	tolerated(0.29)	D6RJA3_HUMAN			YES	PCSK1,missense_variant,p.Tyr417Asn,ENST00000311106,NM_000439.4,NM_001177876.1;PCSK1,missense_variant,p.Tyr370Asn,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;							MODERATE	1249/2262	Y417N	NEC1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000308024		CCDS4081.1			1	
LRCH3	0	LGGM	GRCh37	3	197553884	197553884	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	50	14	.	.	ENST00000334859.4:c.776A>T	p.Gln259Leu	p.Q259L	ENST00000334859	NM_032773.2	259	cAg/cTg	0	1		UPI000021D348	0	NA	ENST00000425562		ENSG00000186001	28637		64	2.305		HGNC	p.Q259L		LRCH3		SNV							ENST00000414675	protein_coding	getma.org/?cm=var&var=hg19,3,197553884,A,T&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF423,SMART_domains:SM00369,Superfamily_domains:SSF52058		Q/L		T	medium	776/2970		getma.org/?cm=msa&ty=f&p=LRCH3_HUMAN&rb=254&re=336&var=Q259L	deleterious(0)	F5H3V2_HUMAN				LRCH3,missense_variant,p.Gln259Leu,ENST00000438796,;LRCH3,missense_variant,p.Gln259Leu,ENST00000425562,;LRCH3,missense_variant,p.Gln259Leu,ENST00000414675,;LRCH3,missense_variant,p.Gln259Leu,ENST00000334859,NM_032773.2;LRCH3,missense_variant,p.Gln133Leu,ENST00000441090,;LRCH3,upstream_gene_variant,,ENST00000536618,;AC055764.1,downstream_gene_variant,,ENST00000454526,;LRCH3,downstream_gene_variant,,ENST00000493726,;LRCH3,splice_region_variant,,ENST00000443727,;							MODERATE	776/2334	Q259L	LRCH3_HUMAN			Transcript		benign(0.064)	.	ENSP00000393579					1	
COL11A1	0	LGGM	GRCh37	1	103471633	103471633	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	29	15	.	.	ENST00000370096.3:c.1782T>A	p.Pro594=	p.P594=	ENST00000370096	NM_001854.3	594	ccT/ccA	0	1	1	UPI00002053EF	0		ENST00000370096		ENSG00000060718	2186		44			HGNC	p.P555P	COSM1600449,COSM1600450	COL11A1		SNV			1			1,1	ENST00000353414	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg		P		T		2095/7286				Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	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,downstream_gene_variant,,ENST00000427239,;COL11A1,non_coding_transcript_exon_variant,,ENST00000461720,;COL11A1,upstream_gene_variant,,ENST00000475980,;					1,1		LOW	1782/5421		COBA1_HUMAN			Transcript			.	ENSP00000359114		CCDS778.1			1	
LYN	0	LGGM	GRCh37	8	56864659	56864659	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	47	15	.	.	ENST00000519728.1:c.622A>T	p.Ile208Phe	p.I208F	ENST00000519728	NM_002350.3	208	Att/Ttt	0	1	1	UPI000013DACD	0	getma.org/pdb.php?prot=LYN_HUMAN&from=129&to=211&var=I208F	ENST00000519728		ENSG00000254087	6735		62	3.495		HGNC	p.I187F		LYN		SNV							ENST00000520220	protein_coding	getma.org/?cm=var&var=hg19,8,56864659,A,T&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR24418:SF42,hmmpanther:PTHR24418,Gene3D:3.30.505.10,Pfam_domain:PF00017,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401		I/F		T	medium	918/2297		getma.org/?cm=msa&ty=f&p=LYN_HUMAN&rb=129&re=211&var=I208F	deleterious(0)	E5RJ37_HUMAN,B4DQ79_HUMAN			YES	LYN,missense_variant,p.Ile187Phe,ENST00000520220,NM_001111097.2;LYN,missense_variant,p.Ile208Phe,ENST00000519728,NM_002350.3;LYN,downstream_gene_variant,,ENST00000520050,;LYN,upstream_gene_variant,,ENST00000420292,;							MODERATE	622/1539	I208F	LYN_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000428924		CCDS6162.1			1	
COL28A1	0	LGGM	GRCh37	7	7484085	7484085	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	26	15	.	.	ENST00000399429.3:c.1545A>T	p.Pro515=	p.P515=	ENST00000399429	NM_001037763.2	515	ccA/ccT	0	1	1	UPI000155D64E	0		ENST00000399429		ENSG00000215018	22442		41			HGNC	p.P515P		COL28A1		SNV							ENST00000399429	protein_coding			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Pfam_domain:PF01391		P		A		1686/4277				H7C3P2_HUMAN,H7BZU0_HUMAN			YES	COL28A1,synonymous_variant,p.=,ENST00000399429,NM_001037763.2;COL28A1,3_prime_UTR_variant,,ENST00000444268,;							LOW	1545/3378		COSA1_HUMAN			Transcript			.	ENSP00000382356		CCDS43553.1			1	
SLC26A7	0	LGGM	GRCh37	8	92262028	92262028	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	15	.	.	ENST00000309536.2:c.149A>T	p.Asp50Val	p.D50V	ENST00000309536	NM_134266.1	50	gAc/gTc	0	1		UPI0000046B1E	0	NA	ENST00000276609		ENSG00000147606	14467		42	4.28		HGNC	p.D50V		SLC26A7		SNV							ENST00000522862	protein_coding	getma.org/?cm=var&var=hg19,8,92262028,A,T&fts=all		Pfam_domain:PF13792,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF75		D/V		T	high	388/5263		getma.org/?cm=msa&ty=f&p=S26A7_HUMAN&rb=32&re=115&var=D50V	deleterious(0)	E5RFH2_HUMAN				SLC26A7,missense_variant,p.Asp50Val,ENST00000276609,NM_052832.2,NM_001282356.1;SLC26A7,missense_variant,p.Asp50Val,ENST00000523719,;SLC26A7,missense_variant,p.Asp50Val,ENST00000309536,NM_134266.1;SLC26A7,missense_variant,p.Asp50Val,ENST00000522862,;SLC26A7,missense_variant,p.Asp50Val,ENST00000522181,;							MODERATE	149/1971	D50V	S26A7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276609		CCDS6254.1			1	
SPEF2	0	LGGM	GRCh37	5	35644521	35644521	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	15	.	.	ENST00000356031.3:c.479A>T	p.Gln160Leu	p.Q160L	ENST00000356031	NM_024867.3	160	cAa/cTa	0	1	1	UPI0001505B9F	0	NA	ENST00000356031		ENSG00000152582	26293		31	1.5		HGNC	p.Q160L		SPEF2		SNV							ENST00000356031	protein_coding	getma.org/?cm=var&var=hg19,5,35644521,A,T&fts=all		hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0		Q/L		T	low	633/5681		getma.org/?cm=msa&ty=f&p=SPEF2_HUMAN&rb=5&re=163&var=Q160L	deleterious(0)				YES	SPEF2,missense_variant,p.Gln160Leu,ENST00000440995,;SPEF2,missense_variant,p.Gln160Leu,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Gln160Leu,ENST00000509059,;SPEF2,missense_variant,p.Gln160Leu,ENST00000282469,NM_144722.3;SPEF2,intron_variant,,ENST00000510777,;SPEF2,downstream_gene_variant,,ENST00000505847,;SPEF2,downstream_gene_variant,,ENST00000505088,;SPEF2,upstream_gene_variant,,ENST00000502454,;							MODERATE	479/5469	Q160L	SPEF2_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000348314		CCDS43309.1			1	
IPO9	0	LGGM	GRCh37	1	201828074	201828074	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	15	.	.	ENST00000361565.4:c.1420A>T	p.Met474Leu	p.M474L	ENST00000361565	NM_018085.4	474	Atg/Ttg	0	1	1	UPI000007304B	0	NA	ENST00000361565		ENSG00000198700	19425		45	-0.74		HGNC	p.M474L		IPO9		SNV							ENST00000361565	protein_coding	getma.org/?cm=var&var=hg19,1,201828074,A,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Superfamily_domains:SSF48371		M/L		T	neutral	1489/11435		getma.org/?cm=msa&ty=f&p=IPO9_HUMAN&rb=320&re=519&var=M474L	tolerated(0.72)				YES	IPO9,missense_variant,p.Met474Leu,ENST00000361565,NM_018085.4;							MODERATE	1420/3126	M474L	IPO9_HUMAN			Transcript		benign(0)	.	ENSP00000354742		CCDS1415.1			1	
RNF19A	0	LGGM	GRCh37	8	101299817	101299817	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	179	15	.	.	ENST00000519449.1:c.586G>A	p.Val196Ile	p.V196I	ENST00000519449	NM_015435.4	196	Gtc/Atc	0	1		UPI000013D5E6	0	NA	ENST00000341084		ENSG00000034677	13432		194	0.69		HGNC	p.V196I		RNF19A		SNV							ENST00000341084	protein_coding	getma.org/?cm=var&var=hg19,8,101299817,C,T&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF111,Superfamily_domains:SSF57850		V/I		T	neutral	1140/4285		getma.org/?cm=msa&ty=f&p=RN19A_HUMAN&rb=120&re=198&var=V196I	tolerated(0.23)	E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN				RNF19A,missense_variant,p.Val196Ile,ENST00000519449,NM_015435.4,NM_001280539.1;RNF19A,missense_variant,p.Val196Ile,ENST00000341084,NM_183419.3;RNF19A,downstream_gene_variant,,ENST00000519527,;RNF19A,downstream_gene_variant,,ENST00000523167,;RNF19A,downstream_gene_variant,,ENST00000522369,;RNF19A,downstream_gene_variant,,ENST00000523481,;RNF19A,downstream_gene_variant,,ENST00000432381,;RNF19A,downstream_gene_variant,,ENST00000517584,;							MODERATE	586/2517	V196I	RN19A_HUMAN			Transcript		benign(0.001)	.	ENSP00000342667		CCDS6286.1			1	
ZNF415	0	LGGM	GRCh37	19	53612331	53612331	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	15	.	.	ENST00000500065.4:c.967A>G	p.Ile323Val	p.I323V	ENST00000500065	NM_001136038.2	323	Att/Gtt	0	1	1	UPI0000E04BC1	0	getma.org/pdb.php?prot=ZN415_HUMAN&from=363&to=387&var=I371V	ENST00000500065		ENSG00000170954	20636		36	0.39		HGNC	p.I93V		ZNF415		SNV							ENST00000601493	protein_coding	getma.org/?cm=var&var=hg19,19,53612331,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF145,Superfamily_domains:SSF57667		I/V		C	neutral	1301/2496		getma.org/?cm=msa&ty=f&p=ZN415_HUMAN&rb=343&re=407&var=I371V	deleterious(0)				YES	ZNF415,missense_variant,p.Ile371Val,ENST00000455735,;ZNF415,missense_variant,p.Ile323Val,ENST00000500065,NM_001136038.2;ZNF415,missense_variant,p.Ile371Val,ENST00000448501,;ZNF415,missense_variant,p.Ile310Val,ENST00000440291,;ZNF415,missense_variant,p.Ile335Val,ENST00000421033,;ZNF415,missense_variant,p.Ile323Val,ENST00000243643,NM_001164309.1,NM_018355.3;ZNF415,missense_variant,p.Ile93Val,ENST00000601493,;ZNF415,3_prime_UTR_variant,,ENST00000594011,;ZNF415,3_prime_UTR_variant,,ENST00000595193,;ZNF415,3_prime_UTR_variant,,ENST00000597503,;ZNF415,3_prime_UTR_variant,,ENST00000597748,;ZNF415,downstream_gene_variant,,ENST00000599261,;ZNF415,downstream_gene_variant,,ENST00000601110,;ZNF415,downstream_gene_variant,,ENST00000595813,;ZNF415,downstream_gene_variant,,ENST00000601215,;ZNF415,downstream_gene_variant,,ENST00000595174,;ZNF415,downstream_gene_variant,,ENST00000595359,;ZNF415,downstream_gene_variant,,ENST00000602024,;ZNF415,3_prime_UTR_variant,,ENST00000600120,;ZNF415,3_prime_UTR_variant,,ENST00000598578,;							MODERATE	967/1668	I371V	ZN415_HUMAN			Transcript		benign(0)	.	ENSP00000439435		CCDS54313.1			1	
CENPJ	0	LGGM	GRCh37	13	25480285	25480285	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	23	15	.	.	ENST00000381884.4:c.1891A>G	p.Ile631Val	p.I631V	ENST00000381884	NM_018451.4	631	Att/Gtt	0	1	1	UPI000013DC8A	0	NA	ENST00000381884		ENSG00000151849	17272		38	-1.78		HGNC	p.I631V		CENPJ		SNV			1				ENST00000381884	protein_coding	getma.org/?cm=var&var=hg19,13,25480285,T,C&fts=all		hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF19		I/V		C	neutral	2077/4347		getma.org/?cm=msa&ty=f&p=CENPJ_HUMAN&rb=601&re=1149&var=I631V	tolerated(1)	B3KVU9_HUMAN			YES	CENPJ,missense_variant,p.Ile631Val,ENST00000381884,NM_018451.4;CENPJ,missense_variant,p.Ile631Val,ENST00000545981,;CENPJ,upstream_gene_variant,,ENST00000418179,;							MODERATE	1891/4017	I631V	CENPJ_HUMAN			Transcript		benign(0)	.	ENSP00000371308		CCDS9310.1			1	
FAM47B	0	LGGM	GRCh37	X	34961488	34961488	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	14	15	.	.	ENST00000329357.5:c.540T>A	p.Gly180=	p.G180=	ENST00000329357	NM_152631.2	180	ggT/ggA	0	1	1	UPI000013F47B	0		ENST00000329357		ENSG00000189132	26659		29			HGNC	p.G180G		FAM47B		SNV							ENST00000329357	protein_coding			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Pfam_domain:PF14642		G		A		576/2122							YES	FAM47B,synonymous_variant,p.=,ENST00000329357,NM_152631.2;							LOW	540/1938		FA47B_HUMAN			Transcript			.	ENSP00000328307		CCDS14236.1			1	
KDR	0	LGGM	GRCh37	4	55946284	55946284	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	15	.	.	ENST00000263923.4:c.3895T>A	p.Ser1299Thr	p.S1299T	ENST00000263923	NM_002253.2	1299	Tca/Aca	0	1	1	UPI000003AE04	0	NA	ENST00000263923		ENSG00000128052	6307		39	1.735		HGNC	p.S1299T		KDR		SNV			1				ENST00000263923	protein_coding	getma.org/?cm=var&var=hg19,4,55946284,A,T&fts=all				S/T		T	low	4191/5831		getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=1202&re=1333&var=S1299T	deleterious(0.01)	B4DEK3_HUMAN			YES	KDR,missense_variant,p.Ser1299Thr,ENST00000263923,NM_002253.2;RP11-530I17.1,intron_variant,,ENST00000511222,;							MODERATE	3895/4071	S1299T	VGFR2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000263923		CCDS3497.1			1	
PCDHA1	0	LGGM	GRCh37	5	140166637	140166637	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	15	.	.	ENST00000504120.2:c.762T>A	p.Thr254=	p.T254=	ENST00000504120	NM_018900.2	254	acT/acA	0	1	1	UPI00001273C7	0		ENST00000504120		ENSG00000204970	8663		58			HGNC	p.T254T		PCDHA1		SNV							ENST00000378133	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,Superfamily_domains:SSF49313		T		A		762/5260							YES	PCDHA1,synonymous_variant,p.=,ENST00000504120,NM_018900.2;PCDHA1,synonymous_variant,p.=,ENST00000394633,NM_031411.1;PCDHA1,synonymous_variant,p.=,ENST00000378133,NM_031410.1;							LOW	762/2853		PCDA1_HUMAN			Transcript			.	ENSP00000420840		CCDS54913.1			1	
BAI3	0	LGGM	GRCh37	6	69348888	69348888	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	46	16	.	.	ENST00000370598.1:c.321T>A	p.Ser107=	p.S107=	ENST00000370598	NM_001704.2	107	tcT/tcA	0	1	1	UPI00001AE6A9	0		ENST00000370598		ENSG00000135298	945		62			HGNC	p.S107S		BAI3		SNV							ENST00000370598	protein_coding			PROSITE_profiles:PS01180		S		A		1142/6010				S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,synonymous_variant,p.=,ENST00000370598,NM_001704.2;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;RP3-525N10.2,upstream_gene_variant,,ENST00000419979,;							LOW	321/4569		BAI3_HUMAN			Transcript			.	ENSP00000359630		CCDS4968.1			1	
DNAH7	0	LGGM	GRCh37	2	196689019	196689019	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	16	.	.	ENST00000312428.6:c.9251A>T	p.Lys3084Met	p.K3084M	ENST00000312428	NM_018897.2	3084	aAg/aTg	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=2953&to=3183&var=K3084M	ENST00000312428		ENSG00000118997	18661		60	4.685		HGNC	p.K3084M		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196689019,T,A&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF12781		K/M		A	high	9352/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=2953&re=3183&var=K3084M	deleterious(0)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Lys3084Met,ENST00000312428,NM_018897.2;DNAH7,non_coding_transcript_exon_variant,,ENST00000493844,;							MODERATE	9251/12075	K3084M	DYH7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000311273		CCDS42794.1			1	
DPP8	0	LGGM	GRCh37	15	65756174	65756174	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	32	16	.	.	ENST00000341861.5:c.1944G>T	p.Gly648=	p.G648=	ENST00000341861	NM_197960.2	648	ggG/ggT	0	1	1	UPI00001BFAFE	0		ENST00000341861		ENSG00000074603	16490		48			HGNC	p.G648G		DPP8		SNV							ENST00000321118	protein_coding			Gene3D:3.40.50.1820,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF98,Superfamily_domains:SSF53474		G		A		3525/8699				H0YN53_HUMAN,H0YMV1_HUMAN			YES	DPP8,synonymous_variant,p.=,ENST00000341861,NM_197960.2;DPP8,synonymous_variant,p.=,ENST00000300141,NM_130434.3;DPP8,synonymous_variant,p.=,ENST00000321147,NM_197961.2;DPP8,synonymous_variant,p.=,ENST00000321118,;DPP8,synonymous_variant,p.=,ENST00000559233,;DPP8,synonymous_variant,p.=,ENST00000358939,NM_017743.4;DPP8,synonymous_variant,p.=,ENST00000339244,;DPP8,synonymous_variant,p.=,ENST00000558786,;DPP8,synonymous_variant,p.=,ENST00000558559,;DPP8,intron_variant,,ENST00000558363,;DPP8,synonymous_variant,p.=,ENST00000395652,;DPP8,non_coding_transcript_exon_variant,,ENST00000560597,;RP11-349G13.3,downstream_gene_variant,,ENST00000605455,;							LOW	1944/2697		DPP8_HUMAN			Transcript			.	ENSP00000339208		CCDS10207.1			1	
USP29	0	LGGM	GRCh37	19	57642452	57642452	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	22	16	.	.	ENST00000254181.4:c.2409A>T	p.Thr803=	p.T803=	ENST00000254181	NM_020903.2	803	acA/acT	0	1	1	UPI0000137A01	0		ENST00000254181		ENSG00000131864	18563		38			HGNC	p.T803T		USP29		SNV							ENST00000254181	protein_coding			PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		T		T		2863/3705				M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,synonymous_variant,p.=,ENST00000254181,NM_020903.2;USP29,synonymous_variant,p.=,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;							LOW	2409/2769		UBP29_HUMAN			Transcript			.	ENSP00000254181		CCDS33124.1			1	
FAM171B	0	LGGM	GRCh37	2	187626558	187626558	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	16	.	.	ENST00000304698.5:c.1489A>T	p.Ile497Phe	p.I497F	ENST00000304698	NM_177454.3	497	Att/Ttt	0	1	1	UPI0000161631	0	NA	ENST00000304698		ENSG00000144369	29412		43	0		HGNC	p.I497F		FAM171B		SNV							ENST00000304698	protein_coding	getma.org/?cm=var&var=hg19,2,187626558,A,T&fts=all		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2		I/F		T	neutral	1692/5819		getma.org/?cm=msa&ty=f&p=F171B_HUMAN&rb=415&re=826&var=I497F	tolerated(0.37)	A8K122_HUMAN			YES	FAM171B,missense_variant,p.Ile497Phe,ENST00000304698,NM_177454.3;							MODERATE	1489/2481	I497F	F171B_HUMAN			Transcript		benign(0.002)	.	ENSP00000304108		CCDS33347.1			1	
AQPEP	0	LGGM	GRCh37	5	115320285	115320285	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	16	.	.	ENST00000357872.4:c.857A>G	p.Asp286Gly	p.D286G	ENST00000357872	NM_173800.4	286	gAt/gGt	0	1	1	UPI0000457329	0	getma.org/pdb.php?prot=AMPQ_HUMAN&from=97&to=506&var=D286G	ENST00000357872		ENSG00000172901			43	1.035		Uniprot_gn	p.D286G		AQPEP		SNV							ENST00000357872	protein_coding	getma.org/?cm=var&var=hg19,5,115320285,A,G&fts=all		Superfamily_domains:0038696,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533		D/G		G	low	981/4581		getma.org/?cm=msa&ty=f&p=AMPQ_HUMAN&rb=97&re=506&var=D286G	deleterious(0)				YES	AQPEP,missense_variant,p.Asp286Gly,ENST00000357872,NM_173800.4;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,missense_variant,p.Asp286Gly,ENST00000504467,;							MODERATE	857/2973	D286G	AMPQ_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000350541		CCDS4124.1			1	
HECW2	0	LGGM	GRCh37	2	197184455	197184455	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	16	.	.	ENST00000260983.3:c.1159A>T	p.Arg387Trp	p.R387W	ENST00000260983	NM_020760.1	387	Agg/Tgg	0	1	1	UPI00001A75E8	0	NA	ENST00000260983		ENSG00000138411	29853		46	0.695		HGNC	p.R387W		HECW2		SNV							ENST00000260983	protein_coding	getma.org/?cm=var&var=hg19,2,197184455,T,A&fts=all		hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254		R/W		A	neutral	1342/11809		getma.org/?cm=msa&ty=f&p=HECW2_HUMAN&rb=283&re=482&var=R387W	tolerated_low_confidence(0.29)	C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,missense_variant,p.Arg387Trp,ENST00000260983,NM_020760.1;HECW2,missense_variant,p.Arg31Trp,ENST00000409111,;							MODERATE	1159/4719	R387W	HECW2_HUMAN			Transcript		benign(0.43)	.	ENSP00000260983		CCDS33354.1			1	
PRSS50	0	LGGM	GRCh37	3	46755789	46755789	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	15	16	.	.	ENST00000460241.1:c.673del	p.Ile225SerfsTer10	p.I225Sfs*10	ENST00000460241		225	Atc/tc	0	1		UPI0000037465	0		ENST00000315170		ENSG00000206549	17910		31			HGNC	p.I225fs		PRSS50		deletion							ENST00000460241	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF6,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		I/X		-		673/1289				B3KUP4_HUMAN				PRSS50,frameshift_variant,p.Ile225SerfsTer10,ENST00000460241,;PRSS50,frameshift_variant,p.Ile225SerfsTer10,ENST00000315170,NM_013270.4;TMIE,downstream_gene_variant,,ENST00000326431,NM_147196.2;							HIGH	673/1158		TSP50_HUMAN			Transcript			.	ENSP00000326598		CCDS2745.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144877266	144877266	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	63	16	.	.	ENST00000369356.4:c.4421A>T	p.Tyr1474Phe	p.Y1474F	ENST00000369356	NM_014644.5	1474	tAt/tTt	0	1		UPI0000251FAA	0	NA	ENST00000369354		ENSG00000178104	15580		79	1.385		HGNC	p.Y1610F		PDE4DIP		SNV							ENST00000530740	protein_coding	getma.org/?cm=var&var=hg19,1,144877266,T,A&fts=all		hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2		Y/F		A	low	4611/8262		getma.org/?cm=msa&ty=f&p=MYOME_HUMAN&rb=1279&re=1478&var=Y1474F		I1VE15_HUMAN				PDE4DIP,missense_variant,p.Tyr1610Phe,ENST00000369359,;PDE4DIP,missense_variant,p.Tyr1474Phe,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,missense_variant,p.Tyr1610Phe,ENST00000530740,;PDE4DIP,missense_variant,p.Tyr1474Phe,ENST00000369354,;PDE4DIP,missense_variant,p.Tyr1430Phe,ENST00000313382,NM_001198832.2;PDE4DIP,downstream_gene_variant,,ENST00000530592,;AL138796.1,upstream_gene_variant,,ENST00000582173,;RP4-791M13.5,non_coding_transcript_exon_variant,,ENST00000531288,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;PDE4DIP,upstream_gene_variant,,ENST00000479369,;							MODERATE	4421/7041	Y1474F	MYOME_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000358360		CCDS30824.1			1	
TANC1	0	LGGM	GRCh37	2	159954147	159954147	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	46	17	.	.	ENST00000263635.6:c.62-2A>T		p.X21_splice	ENST00000263635	NM_033394.2			0	1	1	UPI0000421D80	0		ENST00000263635		ENSG00000115183	29364		63			HGNC	-		TANC1		SNV							ENST00000454300	protein_coding							T		-/7470							YES	TANC1,splice_acceptor_variant,,ENST00000263635,NM_033394.2,NM_001145909.1;TANC1,splice_acceptor_variant,,ENST00000454300,;							HIGH	62/5586		TANC1_HUMAN			Transcript			.	ENSP00000263635		CCDS42766.1			1	
ZNF99	0	LGGM	GRCh37	19	22942026	22942026	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	17	.	.	ENST00000596209.1:c.685T>A	p.Tyr229Asn	p.Y229N	ENST00000596209	NM_001080409.2	229	Tac/Aac	0	1	1	UPI0000426011	0		ENST00000596209		ENSG00000213973	13175		37			HGNC	p.Y229N		ZNF99		SNV							ENST00000596209	protein_coding			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157		Y/N		T		776/2686			deleterious(0.02)	M0R335_HUMAN			YES	ZNF99,missense_variant,p.Tyr229Asn,ENST00000596209,NM_001080409.2;ZNF99,intron_variant,,ENST00000397104,;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODERATE	685/2595					Transcript		benign(0.045)	.	ENSP00000472969		CCDS59369.1			1	
UBR4	0	LGGM	GRCh37	1	19479822	19479822	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	38	17	.	.	ENST00000375254.3:c.6805G>T	p.Val2269Phe	p.V2269F	ENST00000375254	NM_020765.2	2269	Gtt/Ttt	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		55	0.69		HGNC	p.V2269F		UBR4		SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19479822,C,A&fts=all		hmmpanther:PTHR21725		V/F		A	neutral	6833/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=2131&re=2330&var=V2269F		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Val2269Phe,ENST00000375267,;UBR4,missense_variant,p.Val2269Phe,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Val2269Phe,ENST00000375217,;UBR4,missense_variant,p.Val2269Phe,ENST00000375226,;UBR4,missense_variant,p.Val979Phe,ENST00000417040,;UBR4,upstream_gene_variant,,ENST00000425413,;UBR4,downstream_gene_variant,,ENST00000497018,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;							MODERATE	6805/15552	V2269F	UBR4_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000364403		CCDS189.1			1	
FAM13B	0	LGGM	GRCh37	5	137342774	137342774	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	17	.	.	ENST00000033079.3:c.753A>T	p.Pro251=	p.P251=	ENST00000033079	NM_016603.2	251	ccA/ccT	0	1	1	UPI000004A03C	0		ENST00000033079		ENSG00000031003	1335		60			HGNC	p.P251P		FAM13B		SNV							ENST00000420893	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15904:SF16,hmmpanther:PTHR15904		P		A		1205/5465				D6RE97_HUMAN,D6RDL7_HUMAN,D6RCA0_HUMAN,D6RBJ3_HUMAN,D6RAT6_HUMAN			YES	FAM13B,synonymous_variant,p.=,ENST00000033079,NM_016603.2;FAM13B,synonymous_variant,p.=,ENST00000420893,NM_001101800.1;FAM13B,synonymous_variant,p.=,ENST00000425075,NM_001101801.1;FAM13B,downstream_gene_variant,,ENST00000514310,;							LOW	753/2748		FA13B_HUMAN			Transcript			.	ENSP00000033079		CCDS4195.1			1	
NLRP4	0	LGGM	GRCh37	19	56370101	56370101	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	33	17	.	.	ENST00000301295.6:c.1342T>A	p.Tyr448Asn	p.Y448N	ENST00000301295	NM_134444.4	448	Tac/Aac	0	1	1	UPI000013E6FD	0	NA	ENST00000301295		ENSG00000160505	22943		50	2.9		HGNC	p.Y448N		NLRP4		SNV							ENST00000301295	protein_coding	getma.org/?cm=var&var=hg19,19,56370101,T,A&fts=all		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106		Y/N		A	medium	1764/3670		getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=149&re=472&var=Y448N	deleterious(0)	K7ES09_HUMAN			YES	NLRP4,missense_variant,p.Tyr448Asn,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Tyr448Asn,ENST00000346986,;NLRP4,missense_variant,p.Tyr373Asn,ENST00000587891,;NLRP4,missense_variant,p.Tyr14Asn,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;							MODERATE	1342/2985	Y448N	NALP4_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000301295		CCDS12936.1			1	
CLCN5	0	LGGM	GRCh37	X	49846313	49846313	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	17	.	.	ENST00000376088.3:c.742A>T	p.Ser248Cys	p.S248C	ENST00000376088	NM_001127899.2	248	Agt/Tgt	0	1		UPI0000127A9B	0	getma.org/pdb.php?prot=CLCN5_HUMAN&from=149&to=551&var=S178C	ENST00000307367		ENSG00000171365	2023		41	3.23		HGNC	p.S178C		CLCN5		SNV			1				ENST00000376108	protein_coding	getma.org/?cm=var&var=hg19,X,49846313,A,T&fts=all		Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Superfamily_domains:SSF81340		S/C		T	medium	823/3177		getma.org/?cm=msa&ty=f&p=CLCN5_HUMAN&rb=149&re=551&var=S178C	deleterious(0.01)					CLCN5,missense_variant,p.Ser248Cys,ENST00000376088,NM_001127899.2,NM_001127898.2;CLCN5,missense_variant,p.Ser178Cys,ENST00000307367,;CLCN5,missense_variant,p.Ser248Cys,ENST00000376091,;CLCN5,missense_variant,p.Ser178Cys,ENST00000376108,NM_000084.3;							MODERATE	532/2241	S178C	CLCN5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000304257		CCDS14328.1			1	
DNAH7	0	LGGM	GRCh37	2	196756392	196756392	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	17	.	.	ENST00000312428.6:c.5033T>A	p.Phe1678Tyr	p.F1678Y	ENST00000312428	NM_018897.2	1678	tTt/tAt	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=1521&to=1720&var=F1678Y	ENST00000312428		ENSG00000118997	18661		57	1.67		HGNC	p.F1678Y		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196756392,A,T&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		F/Y		T	low	5134/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=1521&re=1720&var=F1678Y	tolerated(0.21)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Phe1678Tyr,ENST00000312428,NM_018897.2;DNAH7,downstream_gene_variant,,ENST00000475293,;							MODERATE	5033/12075	F1678Y	DYH7_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000311273		CCDS42794.1			1	
NUF2	0	LGGM	GRCh37	1	163297319	163297319	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	30	17	.	.	ENST00000271452.3:c.165A>T	p.Ile55=	p.I55=	ENST00000271452	NM_145697.2	55	atA/atT	0	1	1	UPI000006D211	0		ENST00000271452		ENSG00000143228	14621		47			HGNC	p.I55I		NUF2		SNV							ENST00000367900	protein_coding			Pfam_domain:PF03800,hmmpanther:PTHR21650,hmmpanther:PTHR21650:SF2		I		T		444/1969				E9PKH1_HUMAN,B1AQT4_HUMAN,B1AQT3_HUMAN			YES	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,synonymous_variant,p.=,ENST00000534289,;NUF2,non_coding_transcript_exon_variant,,ENST00000490881,;NUF2,synonymous_variant,p.=,ENST00000497990,;NUF2,non_coding_transcript_exon_variant,,ENST00000487578,;							LOW	165/1395		NUF2_HUMAN			Transcript			.	ENSP00000271452		CCDS1245.1			1	
NRIP1	0	LGGM	GRCh37	21	16339896	16339896	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	54	18	.	.	ENST00000400202.1:c.618G>A	p.Val206=	p.V206=	ENST00000400202		206	gtG/gtA	0	1		UPI000004A0A8	0		ENST00000318948		ENSG00000180530	8001		72			HGNC	p.V206V		NRIP1		SNV							ENST00000400199	protein_coding			hmmpanther:PTHR15088		V		T		1216/7556				N0GWB6_HUMAN,N0GW17_HUMAN,C9J130_HUMAN				NRIP1,synonymous_variant,p.=,ENST00000400202,;NRIP1,synonymous_variant,p.=,ENST00000400199,;NRIP1,synonymous_variant,p.=,ENST00000318948,NM_003489.3;NRIP1,downstream_gene_variant,,ENST00000411932,;AF127577.11,upstream_gene_variant,,ENST00000436429,;AF127577.10,downstream_gene_variant,,ENST00000446301,;							LOW	618/3477		NRIP1_HUMAN			Transcript			.	ENSP00000327213		CCDS13568.1			1	
LRRC7	0	LGGM	GRCh37	1	70504511	70504511	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	39	18	.	.	ENST00000035383.5:c.2890C>T	p.Pro964Ser	p.P964S	ENST00000035383	NM_020794.2	964	Cca/Tca	0	1	1	UPI000006F29B	0	NA	ENST00000035383		ENSG00000033122	18531		57	1.67		HGNC	p.P964S		LRRC7		SNV							ENST00000035383	protein_coding	getma.org/?cm=var&var=hg19,1,70504511,C,T&fts=all				P/S		T	low	2920/5000		getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=694&re=1212&var=P964S	deleterious(0.01)				YES	LRRC7,missense_variant,p.Pro969Ser,ENST00000310961,;LRRC7,missense_variant,p.Pro964Ser,ENST00000035383,NM_020794.2;LRRC7,missense_variant,p.Pro248Ser,ENST00000415775,;							MODERATE	2890/4614	P964S	LRRC7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000035383		CCDS645.1			1	
PRR16	0	LGGM	GRCh37	5	120021866	120021866	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	41	18	.	.	ENST00000379551.2:c.308C>T	p.Pro103Leu	p.P103L	ENST00000379551	NM_016644.1	103	cCt/cTt	0	1		UPI00004F9C36	0	NA	ENST00000407149		ENSG00000184838	29654		59	1.845		HGNC	p.P126L		PRR16		SNV							ENST00000407149	protein_coding	getma.org/?cm=var&var=hg19,5,120021866,C,T&fts=all		Pfam_domain:PF15252,hmmpanther:PTHR15917,hmmpanther:PTHR15917:SF0,Low_complexity_(Seg):seg		P/L		T	low	586/1747		getma.org/?cm=msa&ty=f&p=PRR16_HUMAN&rb=11&re=302&var=P126L	deleterious(0)	D6RGF0_HUMAN				PRR16,missense_variant,p.Pro103Leu,ENST00000379551,NM_016644.1;PRR16,missense_variant,p.Pro126Leu,ENST00000407149,;PRR16,missense_variant,p.Pro56Leu,ENST00000505123,;PRR16,missense_variant,p.Pro56Leu,ENST00000446965,;PRR16,missense_variant,p.Pro56Leu,ENST00000509923,;							MODERATE	377/915	P126L	PRR16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000385118					1	
ZNF432	0	LGGM	GRCh37	19	52537547	52537547	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	31	18	.	.	ENST00000594154.1:c.1385G>C	p.Cys462Ser	p.C462S	ENST00000594154		462	tGt/tCt	0	1		UPI0000139CDC	0	getma.org/pdb.php?prot=ZN432_HUMAN&from=443&to=467&var=C462S	ENST00000221315		ENSG00000256087	20810		49	3.89		HGNC	p.C462S	rs773708471	ZNF432	6.07E-05	SNV							ENST00000594154	protein_coding	getma.org/?cm=var&var=hg19,19,52537547,C,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF165,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/S		G	high	1703/2577		getma.org/?cm=msa&ty=f&p=ZN432_HUMAN&rb=423&re=487&var=C462S	deleterious(0)	M0R258_HUMAN,M0R0H8_HUMAN,M0R0E2_HUMAN				ZNF432,missense_variant,p.Cys462Ser,ENST00000594154,;ZNF432,missense_variant,p.Cys462Ser,ENST00000221315,NM_014650.2;ZNF432,downstream_gene_variant,,ENST00000600368,;ZNF614,upstream_gene_variant,,ENST00000597952,;ZNF432,downstream_gene_variant,,ENST00000598745,;							MODERATE	1385/1959	C462S	ZN432_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000221315	8.24E-06	CCDS12848.1			1	
COL22A1	0	LGGM	GRCh37	8	139820016	139820016	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	134	18	.	.	ENST00000303045.6:c.1489C>A	p.Pro497Thr	p.P497T	ENST00000303045	NM_152888.1	497	Cca/Aca	0	1	1	UPI00001C1EA1	0	NA	ENST00000303045		ENSG00000169436	22989		152	2.335		HGNC	p.P497T		COL22A1		SNV							ENST00000303045	protein_coding	getma.org/?cm=var&var=hg19,8,139820016,G,T&fts=all		hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023		P/T		T	medium	1936/6346		getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=481&re=520&var=P497T					YES	COL22A1,missense_variant,p.Pro497Thr,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Pro497Thr,ENST00000435777,;							MODERATE	1489/4881	P497T	COMA1_HUMAN			Transcript		unknown(0)	.	ENSP00000303153		CCDS6376.1			1	
HELZ	0	LGGM	GRCh37	17	65157189	65157189	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	18	.	.	ENST00000358691.5:c.1899A>G	p.Gln633=	p.Q633=	ENST00000358691	NM_014877.3	633	caA/caG	0	1	1	UPI000013D7F5	0		ENST00000358691		ENSG00000198265	16878	8.71E-05	54			HGNC	p.Q633Q	rs377185380	HELZ		SNV	C:0						ENST00000580168	protein_coding			hmmpanther:PTHR10887:SF9,hmmpanther:PTHR10887,Gene3D:3.40.50.300		Q	C:0.0001	C		2066/13810	4.57E-05			J3KT20_HUMAN,J3KS59_HUMAN			YES	HELZ,synonymous_variant,p.=,ENST00000358691,NM_014877.3;HELZ,synonymous_variant,p.=,ENST00000580168,;HELZ,synonymous_variant,p.=,ENST00000579953,;							LOW	1899/5829		HELZ_HUMAN			Transcript			.	ENSP00000351524	3.31E-05	CCDS42374.1			1	
HEATR2	0	LGGM	GRCh37	7	803497	803497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	38	18	.	.	ENST00000297440.6:c.1669G>T	p.Asp557Tyr	p.D557Y	ENST00000297440	NM_017802.3	557	Gac/Tac	0	1	1	UPI0000D61BE2	0	NA	ENST00000297440		ENSG00000164818	26013		56	1.655		HGNC	p.D557Y		HEATR2		SNV			1				ENST00000297440	protein_coding	getma.org/?cm=var&var=hg19,7,803497,G,T&fts=all		hmmpanther:PTHR16216:SF2,hmmpanther:PTHR16216,Superfamily_domains:SSF48371		D/Y		T	low	1689/3410		getma.org/?cm=msa&ty=f&p=HEAT2_HUMAN&rb=513&re=712&var=D557Y	tolerated(0.07)				YES	HEATR2,missense_variant,p.Asp557Tyr,ENST00000297440,NM_017802.3;HEATR2,missense_variant,p.Asp557Tyr,ENST00000313147,;HEATR2,missense_variant,p.Asp359Tyr,ENST00000440747,;HEATR2,upstream_gene_variant,,ENST00000403952,;HEATR2,upstream_gene_variant,,ENST00000491496,;							MODERATE	1669/2568	D557Y	HEAT2_HUMAN			Transcript		benign(0.087)	.	ENSP00000297440		CCDS34580.1			1	
BTF3L4	0	LGGM	GRCh37	1	52525528	52525528	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	18	.	.	ENST00000313334.8:c.9A>T	p.Gln3His	p.Q3H	ENST00000313334	NM_152265.4	3	caA/caT	0	1	1	UPI00000299AB	0	NA	ENST00000313334		ENSG00000134717	30547		54	2.545		HGNC	p.Q3H		BTF3L4		SNV							ENST00000477828	protein_coding	getma.org/?cm=var&var=hg19,1,52525528,A,T&fts=all		hmmpanther:PTHR10351		Q/H		T	medium	277/4703		getma.org/?cm=msa&ty=f&p=BT3L4_HUMAN&rb=1&re=35&var=Q3H	deleterious(0.04)				YES	BTF3L4,missense_variant,p.Gln3His,ENST00000313334,NM_152265.4;BTF3L4,missense_variant,p.Gln3His,ENST00000484036,;BTF3L4,missense_variant,p.Gln3His,ENST00000489308,NM_001243767.1;BTF3L4,intron_variant,,ENST00000472944,NM_001136497.2;TXNDC12,upstream_gene_variant,,ENST00000371626,NM_015913.3;TXNDC12,upstream_gene_variant,,ENST00000610127,;BTF3L4,non_coding_transcript_exon_variant,,ENST00000533836,;BTF3L4,intron_variant,,ENST00000526132,;BTF3L4,missense_variant,p.Gln3His,ENST00000477828,;BTF3L4,non_coding_transcript_exon_variant,,ENST00000524414,;TXNDC12,upstream_gene_variant,,ENST00000472624,;							MODERATE	9/477	Q3H	BT3L4_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000360664		CCDS30713.1			1	
KRT76	0	LGGM	GRCh37	12	53169382	53169382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	46	18	.	.	ENST00000332411.2:c.605G>A	p.Arg202Gln	p.R202Q	ENST00000332411	NM_015848.4	202	cGg/cAg	0	1	1	UPI000019B3C1	0	getma.org/pdb.php?prot=K22O_HUMAN&from=182&to=495&var=R202Q	ENST00000332411		ENSG00000185069	24430		64	2.62		HGNC	p.R202Q	rs370398922,COSM3772657	KRT76	6.10E-05	SNV	T:0					0,1	ENST00000332411	protein_coding	getma.org/?cm=var&var=hg19,12,53169382,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF88,Pfam_domain:PF00038,Superfamily_domains:SSF64593		R/Q	T:0.0002	T	medium	659/2529	3.01E-05	getma.org/?cm=msa&ty=f&p=K22O_HUMAN&rb=182&re=495&var=R202Q	deleterious(0.01)				YES	KRT76,missense_variant,p.Arg202Gln,ENST00000332411,NM_015848.4;					0,1		MODERATE	605/1917	R202Q	K22O_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000330101	2.47E-05	CCDS8838.1			1	
SND1	0	LGGM	GRCh37	7	127334880	127334880	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	48	19	.	.	ENST00000354725.3:c.229-2A>T		p.X77_splice	ENST00000354725	NM_014390.2			0	1	1	UPI00000727E5	0		ENST00000354725		ENSG00000197157	30646		67			HGNC	-		SND1		SNV							ENST00000354725	protein_coding							T		-/3476				B2R5U1_HUMAN			YES	SND1,splice_acceptor_variant,,ENST00000354725,NM_014390.2;SND1,splice_acceptor_variant,,ENST00000483503,;SND1,splice_acceptor_variant,,ENST00000461056,;SND1,splice_acceptor_variant,,ENST00000492772,;SND1,splice_acceptor_variant,,ENST00000468621,;							HIGH	229/2733		SND1_HUMAN			Transcript			.	ENSP00000346762		CCDS34747.1			1	
WDFY4	0	LGGM	GRCh37	10	50019691	50019691	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	19	.	.	ENST00000325239.5:c.5152T>A	p.Tyr1718Asn	p.Y1718N	ENST00000325239	NM_020945.1	1718	Tac/Aac	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		40	2.39		HGNC	p.Y1718N		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,50019691,T,A&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		Y/N		A	medium	5179/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=1601&re=1800&var=Y1718N	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Tyr1718Asn,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Tyr265Asn,ENST00000374161,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;							MODERATE	5152/9555	Y1718N	WDFY4_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000320563		CCDS44385.1			1	
WDR87	0	LGGM	GRCh37	19	38383528	38383528	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	47	19	.	.	ENST00000303868.5:c.2698T>C	p.Cys900Arg	p.C900R	ENST00000303868	NM_031951.3	900	Tgc/Cgc	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		66	1.79		HGNC	p.C939R		WDR87		SNV							ENST00000447313	protein_coding	getma.org/?cm=var&var=hg19,19,38383528,A,G&fts=all		hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		C/R		G	low	2923/8847		getma.org/?cm=msa&ty=f&p=WDR87_HUMAN&rb=796&re=995&var=C900R		B4DXE9_HUMAN			YES	WDR87,missense_variant,p.Cys939Arg,ENST00000447313,;WDR87,missense_variant,p.Cys900Arg,ENST00000303868,NM_031951.3;WDR87,downstream_gene_variant,,ENST00000473328,;							MODERATE	2698/8622	C900R	WDR87_HUMAN			Transcript		benign(0.028)	.	ENSP00000368025		CCDS46063.1			1	
FBN1	0	LGGM	GRCh37	15	48760241	48760241	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	58	19	.	.	ENST00000316623.5:c.4641A>T	p.Thr1547=	p.T1547=	ENST00000316623	NM_000138.4	1547	acA/acT	0	1	1	UPI0000163B0B	0		ENST00000316623		ENSG00000166147	3603		77			HGNC	p.T1547T		FBN1		SNV			1				ENST00000316623	protein_coding			Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF22,Superfamily_domains:SSF57581		T		A		5097/11756				Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,3_prime_UTR_variant,,ENST00000537463,;FBN1,upstream_gene_variant,,ENST00000559133,;							LOW	4641/8616		FBN1_HUMAN			Transcript			.	ENSP00000325527		CCDS32232.1			1	
TMEM161B	0	LGGM	GRCh37	5	87502938	87502938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	37	19	.	.	ENST00000296595.6:c.506C>A	p.Ser169Tyr	p.S169Y	ENST00000296595	NM_153354.3	169	tCt/tAt	0	1	1	UPI000007229D	0	NA	ENST00000296595		ENSG00000164180	28483		56	2.47		HGNC	p.S42Y		TMEM161B		SNV							ENST00000510089	protein_coding	getma.org/?cm=var&var=hg19,5,87502938,G,T&fts=all		Pfam_domain:PF10268,hmmpanther:PTHR13624,hmmpanther:PTHR13624:SF3		S/Y		T	medium	631/2594		getma.org/?cm=msa&ty=f&p=T161B_HUMAN&rb=2&re=487&var=S169Y	deleterious(0)	D6RBE8_HUMAN,B7Z6T3_HUMAN			YES	TMEM161B,missense_variant,p.Ser169Tyr,ENST00000296595,NM_153354.3;TMEM161B,missense_variant,p.Ser169Tyr,ENST00000514135,;TMEM161B,missense_variant,p.Ser158Tyr,ENST00000512429,;TMEM161B,missense_variant,p.Ser42Tyr,ENST00000509387,;TMEM161B,5_prime_UTR_variant,,ENST00000506536,;TMEM161B,5_prime_UTR_variant,,ENST00000511218,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000503755,;TMEM161B,non_coding_transcript_exon_variant,,ENST00000513487,;TMEM161B,missense_variant,p.Ser42Tyr,ENST00000510089,;TMEM161B,3_prime_UTR_variant,,ENST00000511087,;TMEM161B,3_prime_UTR_variant,,ENST00000507872,;							MODERATE	506/1464	S169Y	T161B_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000296595		CCDS4065.1			1	
IGLL1	0	LGGM	GRCh37	22	23915553	23915553	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	27	19	.	.	ENST00000330377.2:c.542T>A	p.Leu181Gln	p.L181Q	ENST00000330377	NM_020070.3	181	cTg/cAg	0	1	1	UPI0000119C23	0	getma.org/pdb.php?prot=IGLL1_HUMAN&from=120&to=207&var=L181Q	ENST00000330377		ENSG00000128322	5870		46	3.585		HGNC	p.L181Q		IGLL1		SNV			1				ENST00000330377	protein_coding	getma.org/?cm=var&var=hg19,22,23915553,A,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF75,hmmpanther:PTHR23266,Pfam_domain:PF07654,Gene3D:2.60.40.10,SMART_domains:SM00407,Superfamily_domains:SSF48726		L/Q		T	high	660/901		getma.org/?cm=msa&ty=f&p=IGLL1_HUMAN&rb=120&re=207&var=L181Q	deleterious_low_confidence(0)				YES	IGLL1,missense_variant,p.Leu181Gln,ENST00000330377,NM_020070.3;IGLL1,3_prime_UTR_variant,,ENST00000249053,NM_152855.2;IGLL1,downstream_gene_variant,,ENST00000438703,;AP000345.2,intron_variant,,ENST00000458318,;AP000345.2,downstream_gene_variant,,ENST00000454863,;							MODERATE	542/642	L181Q	IGLL1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000329312		CCDS13809.1			1	
BLTP1	0	LGGM	GRCh37	4	123249396	123249396	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	16	19	.	.	ENST00000264501.4:c.11133C>T	p.Phe3711=	p.F3711=	ENST00000264501		3711	ttC/ttT	0	1	1	UPI0000DD87B4	0		ENST00000264501		ENSG00000138688	26953		35			HGNC	p.F415F		KIAA1109		SNV							ENST00000438707	protein_coding			hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		F		T		11506/15896				B3KN93_HUMAN			YES	KIAA1109,synonymous_variant,p.=,ENST00000264501,;KIAA1109,synonymous_variant,p.=,ENST00000388738,NM_015312.3;KIAA1109,synonymous_variant,p.=,ENST00000438707,;KIAA1109,synonymous_variant,p.=,ENST00000306802,;KIAA1109,downstream_gene_variant,,ENST00000455637,;KIAA1109,downstream_gene_variant,,ENST00000419325,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000480651,;							LOW	11133/15018		K1109_HUMAN			Transcript			.	ENSP00000264501		CCDS43267.1			1	
MYH7	0	LGGM	GRCh37	14	23887439	23887439	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	32	19	.	.	ENST00000355349.3:c.4149T>A	p.Thr1383=	p.T1383=	ENST00000355349	NM_000257.2	1383	acT/acA	0	1	1	UPI000014019B	0		ENST00000355349		ENSG00000092054	7577		51			HGNC	p.T1383T		MYH7		SNV			1				ENST00000355349	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279		T		T		4312/6087				Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.2;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;							LOW	4149/5808		MYH7_HUMAN			Transcript			.	ENSP00000347507		CCDS9601.1			1	
ASCC3	0	LGGM	GRCh37	6	101296249	101296249	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	35	19	.	.	ENST00000369162.2:c.576A>T	p.Ile192=	p.I192=	ENST00000369162	NM_006828.2	192	atA/atT	0	1	1	UPI000014145A	0		ENST00000369162		ENSG00000112249	18697		54			HGNC	p.I192I	COSM3994533	ASCC3		SNV						1	ENST00000522650	protein_coding			hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF8		I		A		921/8146				E5RFZ0_HUMAN			YES	ASCC3,synonymous_variant,p.=,ENST00000369162,NM_006828.2;ASCC3,synonymous_variant,p.=,ENST00000522650,NM_001284271.1;ASCC3,downstream_gene_variant,,ENST00000324723,;ASCC3,3_prime_UTR_variant,,ENST00000324696,;ASCC3,non_coding_transcript_exon_variant,,ENST00000468245,;					1		LOW	576/6609		ASCC3_HUMAN			Transcript			.	ENSP00000358159		CCDS5046.1			1	
MUC16	0	LGGM	GRCh37	19	9073892	9073892	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	73	20	.	.	ENST00000397910.4:c.13554A>G	p.Ile4518Met	p.I4518M	ENST00000397910	NM_024690.2	4518	atA/atG	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		93	0.55		HGNC	p.I4518M		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9073892,T,C&fts=all				I/M		C	neutral	13758/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=I4520M		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ile4518Met,ENST00000397910,NM_024690.2;							MODERATE	13554/43524	I4520M				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
C3orf14	0	LGGM	GRCh37	3	62319033	62319033	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	35	20	.	.	ENST00000494481.1:c.356A>T	p.Glu119Val	p.E119V	ENST00000494481		119	gAa/gTa	0	1		UPI00000729BA	0	NA	ENST00000232519		ENSG00000114405	25024		55	1.39		HGNC	p.E119V		C3orf14		SNV							ENST00000232519	protein_coding	getma.org/?cm=var&var=hg19,3,62319033,A,T&fts=all		hmmpanther:PTHR14286		E/V		T	low	402/690		getma.org/?cm=msa&ty=f&p=CC014_HUMAN&rb=80&re=128&var=E119V	tolerated(0.08)	C9JY17_HUMAN				C3orf14,missense_variant,p.Glu119Val,ENST00000494481,;C3orf14,missense_variant,p.Glu119Val,ENST00000542214,NM_020685.3;C3orf14,missense_variant,p.Glu119Val,ENST00000232519,;C3orf14,missense_variant,p.Glu119Val,ENST00000462069,;C3orf14,downstream_gene_variant,,ENST00000465142,;PTPRG-AS1,intron_variant,,ENST00000490916,;PTPRG-AS1,intron_variant,,ENST00000495542,;							MODERATE	356/387	E119V	CC014_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000232519		CCDS2896.1			1	
TRIM32	0	LGGM	GRCh37	9	119461100	119461100	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	8	20	.	.	ENST00000450136.1:c.1079A>T	p.Lys360Met	p.K360M	ENST00000450136	NM_012210.3	360	aAg/aTg	0	1		UPI000012CDB9	0	NA	ENST00000373983		ENSG00000119401	16380		28	0.805		HGNC	p.K360M		TRIM32		SNV			1				ENST00000373983	protein_coding	getma.org/?cm=var&var=hg19,9,119461100,A,T&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51125,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308		K/M		T	low	1209/3688		getma.org/?cm=msa&ty=f&p=TRI32_HUMAN&rb=273&re=370&var=K360M	deleterious(0.01)	Q5JVY0_HUMAN				TRIM32,missense_variant,p.Lys360Met,ENST00000450136,NM_012210.3,NM_001099679.1;TRIM32,missense_variant,p.Lys360Met,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,;							MODERATE	1079/1962	K360M	TRI32_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000363095		CCDS6817.1			1	
ZNF17	0	LGGM	GRCh37	19	57929364	57929364	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	64	20	.	.	ENST00000596400.1:c.136A>T	p.Ser46Cys	p.S46C	ENST00000596400		46	Agc/Tgc	0	1	1	UPI00001D8198	0	getma.org/pdb.php?prot=ZNF17_HUMAN&from=8&to=48&var=S34C	ENST00000601808		ENSG00000186272	12958		84	-0.675		HGNC	p.S36C		ZNF17		SNV							ENST00000307658	protein_coding	getma.org/?cm=var&var=hg19,19,57929364,A,T&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,SMART_domains:SM00349		S/C		T	neutral	313/2524		getma.org/?cm=msa&ty=f&p=ZNF17_HUMAN&rb=8&re=48&var=S34C	tolerated(0.23)				YES	ZNF17,missense_variant,p.Ser36Cys,ENST00000307658,;ZNF17,missense_variant,p.Ser34Cys,ENST00000601808,NM_006959.2;AC003002.6,missense_variant,p.Ser46Cys,ENST00000596400,;AC003002.6,missense_variant,p.Ser102Cys,ENST00000596617,;ZNF17,missense_variant,p.Ser36Cys,ENST00000597350,;AC004076.7,intron_variant,,ENST00000597410,;ZNF17,intron_variant,,ENST00000595206,;ZNF17,intron_variant,,ENST00000599867,;ZNF17,intron_variant,,ENST00000595162,;ZNF17,upstream_gene_variant,,ENST00000602050,;							MODERATE	100/1989	S34C	ZNF17_HUMAN			Transcript		benign(0.006)	.	ENSP00000471905		CCDS42636.1			1	
ZFP64	0	LGGM	GRCh37	20	50803374	50803374	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	20	20	.	.	ENST00000216923.4:c.283A>T	p.Thr95Ser	p.T95S	ENST00000216923	NM_199426.1	95	Aca/Tca	0	1	1	UPI000006D699	0	NA	ENST00000216923		ENSG00000020256	15940		40	1.61		HGNC	p.T95S		ZFP64		SNV							ENST00000346617	protein_coding	getma.org/?cm=var&var=hg19,20,50803374,T,A&fts=all		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27,Low_complexity_(Seg):seg		T/S		A	low	633/3264		getma.org/?cm=msa&ty=f&p=ZF64A_HUMAN&rb=57&re=160&var=T95S	deleterious(0.02)	B3KQX0_HUMAN			YES	ZFP64,missense_variant,p.Thr95Ser,ENST00000216923,NM_199426.1,NM_018197.2;ZFP64,missense_variant,p.Thr93Ser,ENST00000371515,;ZFP64,missense_variant,p.Thr95Ser,ENST00000346617,NM_022088.4;ZFP64,missense_variant,p.Thr95Ser,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Thr95Ser,ENST00000371518,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;							MODERATE	283/2046	T95S	ZF64A_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000216923		CCDS13440.1			1	
MYO5C	0	LGGM	GRCh37	15	52564863	52564863	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	33	20	.	.	ENST00000261839.7:c.664A>T	p.Thr222Ser	p.T222S	ENST00000261839	NM_018728.3	222	Aca/Tca	0	1	1	UPI000013D20E	0	getma.org/pdb.php?prot=MYO5C_HUMAN&from=69&to=741&var=T222S	ENST00000261839		ENSG00000128833	7604		53	2.38		HGNC	p.T222S		MYO5C		SNV							ENST00000559459	protein_coding	getma.org/?cm=var&var=hg19,15,52564863,T,A&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540,Prints_domain:PR00193		T/S		A	medium	826/6971		getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=69&re=741&var=T222S	deleterious(0.01)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Thr222Ser,ENST00000261839,NM_018728.3;MYO5C,missense_variant,p.Thr165Ser,ENST00000443683,;MYO5C,downstream_gene_variant,,ENST00000558479,;MIR1266,downstream_gene_variant,,ENST00000408125,;MYO5C,non_coding_transcript_exon_variant,,ENST00000541028,;MYO5C,missense_variant,p.Thr222Ser,ENST00000560809,;MYO5C,missense_variant,p.Thr222Ser,ENST00000559459,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;							MODERATE	664/5229	T222S	MYO5C_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000261839		CCDS42036.1			1	
CCNYL2	0	LGGM	GRCh37	10	42947133	42947133	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	41	21	.	.	ENST00000483242.3:n.624-2A>T		p.X208_splice	ENST00000483242				0	1	1		0		ENST00000483242		ENSG00000182632	23495		62			HGNC	-		CCNYL2		SNV							ENST00000426433	processed_transcript							A		-/3311							YES	CCNYL2,splice_acceptor_variant,,ENST00000483242,;CCNYL2,splice_acceptor_variant,,ENST00000472090,;CCNYL2,splice_acceptor_variant,,ENST00000426433,;							HIGH						Transcript			.						1	
NME8	0	LGGM	GRCh37	7	37934151	37934151	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	38	21	.	.	ENST00000199447.4:c.1483A>T	p.Lys495Ter	p.K495*	ENST00000199447	NM_016616.4	495	Aaa/Taa	0	1	1	UPI00000700CB	0	NA	ENST00000199447		ENSG00000086288	16473		59	0		HGNC	p.K495X		NME8		SNV			1				ENST00000440017	protein_coding	getma.org/?cm=var&var=hg19,7,37934151,A,T&fts=all		Gene3D:3.30.70.141,Pfam_domain:PF00334,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF45,SMART_domains:SM00562,Superfamily_domains:SSF54919		K/*		T	NA	1855/2312		NA					YES	NME8,stop_gained,p.Lys495Ter,ENST00000199447,NM_016616.4;NME8,stop_gained,p.Lys495Ter,ENST00000440017,;EPDR1,intron_variant,,ENST00000476620,;NME8,upstream_gene_variant,,ENST00000476435,;							HIGH	1483/1767	K495*	TXND3_HUMAN			Transcript			.	ENSP00000199447		CCDS5452.1			1	
VPS13B	0	LGGM	GRCh37	8	100533198	100533198	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	100	21	.	.	ENST00000358544.2:c.4780A>T	p.Asn1594Tyr	p.N1594Y	ENST00000358544	NM_017890.4	1594	Aat/Tat	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		121	2.475		HGNC	p.N1594Y		VPS13B		SNV			1				ENST00000358544	protein_coding	getma.org/?cm=var&var=hg19,8,100533198,A,T&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		N/Y		T	medium	4891/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=1521&re=1720&var=N1594Y	deleterious(0)				YES	VPS13B,missense_variant,p.Asn1594Tyr,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Asn1569Tyr,ENST00000357162,NM_152564.4;VPS13B,missense_variant,p.Asn25Tyr,ENST00000521559,;VPS13B,3_prime_UTR_variant,,ENST00000395996,;VPS13B,3_prime_UTR_variant,,ENST00000496144,;							MODERATE	4780/12069	N1594Y	VP13B_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000351346		CCDS6280.1			1	
WDFY4	0	LGGM	GRCh37	10	49917845	49917845	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	45	21	.	.	ENST00000325239.5:c.68A>T	p.Gln23Leu	p.Q23L	ENST00000325239	NM_020945.1	23	cAg/cTg	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		66	1.87		HGNC	p.Q23L		WDFY4		SNV							ENST00000360890	protein_coding	getma.org/?cm=var&var=hg19,10,49917845,A,T&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		Q/L		T	low	95/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=1&re=200&var=Q23L	deleterious_low_confidence(0.02)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Gln23Leu,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Gln23Leu,ENST00000413659,;WDFY4,missense_variant,p.Gln23Leu,ENST00000360890,;							MODERATE	68/9555	Q23L	WDFY4_HUMAN			Transcript		benign(0.081)	.	ENSP00000320563		CCDS44385.1			1	
PRICKLE2	0	LGGM	GRCh37	3	64132624	64132624	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	26	21	.	.	ENST00000295902.6:c.1542C>T	p.Ser514=	p.S514=	ENST00000295902	NM_198859.3	514	tcC/tcT	0	1	1	UPI0000160A8B	0		ENST00000295902		ENSG00000163637	20340		47			HGNC	p.S514S		PRICKLE2		SNV			1				ENST00000295902	protein_coding			hmmpanther:PTHR24218,hmmpanther:PTHR24218:SF5		S		A		2128/8305				C9JY03_HUMAN			YES	PRICKLE2,synonymous_variant,p.=,ENST00000295902,NM_198859.3;PRICKLE2,synonymous_variant,p.=,ENST00000564377,;							LOW	1542/2535		PRIC2_HUMAN			Transcript			.	ENSP00000295902		CCDS2902.1			1	
ULK1	0	LGGM	GRCh37	12	132404046	132404046	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	7	21	.	.	ENST00000321867.4:c.2714A>T	p.Lys905Met	p.K905M	ENST00000321867	NM_003565.2	905	aAg/aTg	0	1	1	UPI00001FB0D9	0	NA	ENST00000321867		ENSG00000177169	12558		28	2.395		HGNC	p.K905M		ULK1		SNV							ENST00000321867	protein_coding	getma.org/?cm=var&var=hg19,12,132404046,A,T&fts=all		hmmpanther:PTHR24348:SF19,hmmpanther:PTHR24348,Pfam_domain:PF12063,PIRSF_domain:PIRSF000580		K/M		T	medium	3065/5310		getma.org/?cm=msa&ty=f&p=ULK1_HUMAN&rb=833&re=1049&var=K905M	deleterious(0)	F5H4E9_HUMAN,F5H1S7_HUMAN,F5GZQ0_HUMAN			YES	ULK1,missense_variant,p.Lys905Met,ENST00000321867,NM_003565.2;ULK1,missense_variant,p.Lys150Met,ENST00000540647,;ULK1,downstream_gene_variant,,ENST00000541761,;ULK1,non_coding_transcript_exon_variant,,ENST00000544718,;ULK1,upstream_gene_variant,,ENST00000540568,;							MODERATE	2714/3153	K905M	ULK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324560		CCDS9274.1			1	
MAP2K6	0	LGGM	GRCh37	17	67515517	67515517	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	81	21	.	.	ENST00000590474.1:c.310A>T	p.Met104Leu	p.M104L	ENST00000590474	NM_002758.3	104	Atg/Ttg	0	1	1	UPI000012F492	0	getma.org/pdb.php?prot=MP2K6_HUMAN&from=53&to=314&var=M104L	ENST00000590474		ENSG00000108984	6846		102	0.44		HGNC	p.M104L		MAP2K6		SNV							ENST00000590474	protein_coding	getma.org/?cm=var&var=hg19,17,67515517,A,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF40,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/L		T	neutral	597/2870		getma.org/?cm=msa&ty=f&p=MP2K6_HUMAN&rb=53&re=314&var=M104L	tolerated(0.07)	K7ELM6_HUMAN,A8K3Y2_HUMAN			YES	MAP2K6,missense_variant,p.Met104Leu,ENST00000590474,NM_002758.3;MAP2K6,missense_variant,p.Met48Leu,ENST00000589647,;MAP2K6,missense_variant,p.Met48Leu,ENST00000589295,;MAP2K6,missense_variant,p.Met107Leu,ENST00000588110,;MAP2K6,3_prime_UTR_variant,,ENST00000359094,;MAP2K6,non_coding_transcript_exon_variant,,ENST00000591445,;MAP2K6,non_coding_transcript_exon_variant,,ENST00000586641,;							MODERATE	310/1005	M104L	MP2K6_HUMAN			Transcript		benign(0.158)	.	ENSP00000468348		CCDS11686.1			1	
ALDH1A3	0	LGGM	GRCh37	15	101448623	101448623	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	21	.	.	ENST00000329841.5:c.1402T>A	p.Tyr468Asn	p.Y468N	ENST00000329841	NM_000693.2	468	Tac/Aac	0	1	1	UPI00001AFAF8	0	getma.org/pdb.php?prot=AL1A3_HUMAN&from=40&to=503&var=Y468N	ENST00000329841		ENSG00000184254	409		57	2.665		HGNC	p.Y468N		ALDH1A3		SNV			1				ENST00000329841	protein_coding	getma.org/?cm=var&var=hg19,15,101448623,T,A&fts=all		hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF154,Gene3D:3.40.309.10,Pfam_domain:PF00171,Superfamily_domains:SSF53720		Y/N		A	medium	1934/3924		getma.org/?cm=msa&ty=f&p=AL1A3_HUMAN&rb=40&re=503&var=Y468N	deleterious(0)				YES	ALDH1A3,missense_variant,p.Tyr468Asn,ENST00000329841,NM_000693.2;ALDH1A3,missense_variant,p.Tyr361Asn,ENST00000346623,;RP11-66B24.4,intron_variant,,ENST00000560351,;RP11-66B24.4,downstream_gene_variant,,ENST00000560068,;ALDH1A3,downstream_gene_variant,,ENST00000558869,;							MODERATE	1402/1539	Y468N	AL1A3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000332256		CCDS10389.1			1	
MUC16	0	LGGM	GRCh37	19	9073893	9073893	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	76	21	.	.	ENST00000397910.4:c.13553T>C	p.Ile4518Thr	p.I4518T	ENST00000397910	NM_024690.2	4518	aTa/aCa	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		97	0.55		HGNC	p.I4518T		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9073893,A,G&fts=all				I/T		G	neutral	13757/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=I4520T		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ile4518Thr,ENST00000397910,NM_024690.2;							MODERATE	13553/43524	I4520T				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
AP3B2	0	LGGM	GRCh37	15	83328415	83328415	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	21	.	.	ENST00000261722.3:c.3146T>A	p.Leu1049Gln	p.L1049Q	ENST00000261722	NM_004644.4	1049	cTg/cAg	0	1	1	UPI0000125030	0	NA	ENST00000261722		ENSG00000103723	567		45	2.19		HGNC	p.L1068Q		AP3B2		SNV							ENST00000535359	protein_coding	getma.org/?cm=var&var=hg19,15,83328415,A,T&fts=all		PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Low_complexity_(Seg):seg		L/Q		T	medium	3354/3736		getma.org/?cm=msa&ty=f&p=AP3B2_HUMAN&rb=991&re=1082&var=L1049Q	deleterious(0)	F5GWU4_HUMAN			YES	AP3B2,missense_variant,p.Leu1049Gln,ENST00000261722,NM_004644.4;AP3B2,missense_variant,p.Leu1068Gln,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Leu1017Gln,ENST00000535348,NM_001278511.1;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,non_coding_transcript_exon_variant,,ENST00000537735,;AP3B2,downstream_gene_variant,,ENST00000545315,;AP3B2,downstream_gene_variant,,ENST00000538592,;							MODERATE	3146/3249	L1049Q	AP3B2_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000261722		CCDS45331.1			1	
DLG1	0	LGGM	GRCh37	3	196793577	196793577	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	78	22	.	.	ENST00000346964.2:c.2195A>T	p.Glu732Val	p.E732V	ENST00000346964	NM_004087.2	732	gAa/gTa	0	1		UPI000013CD25	0	NA	ENST00000419354		ENSG00000075711	2900		100	2.645		HGNC	p.E594V	COSM730485	DLG1		SNV						1	ENST00000452595	protein_coding	getma.org/?cm=var&var=hg19,3,196793577,T,A&fts=all		PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119,Superfamily_domains:SSF50044		E/V		A	medium	2416/3994		getma.org/?cm=msa&ty=f&p=DLG1_HUMAN&rb=649&re=712&var=E710V	deleterious(0)	F2Z2L0_HUMAN,C9JUA9_HUMAN,C9JN61_HUMAN,C9J110_HUMAN,A8MUT6_HUMAN				DLG1,missense_variant,p.Glu732Val,ENST00000346964,NM_004087.2;DLG1,missense_variant,p.Glu699Val,ENST00000357674,NM_001204386.1;DLG1,missense_variant,p.Glu659Val,ENST00000314062,;DLG1,missense_variant,p.Glu710Val,ENST00000419354,;DLG1,missense_variant,p.Glu594Val,ENST00000452595,NM_001204388.1;DLG1,missense_variant,p.Glu710Val,ENST00000448528,NM_001098424.1;DLG1,missense_variant,p.Glu659Val,ENST00000422288,;DLG1,missense_variant,p.Glu677Val,ENST00000392382,;DLG1,missense_variant,p.Glu699Val,ENST00000450955,;DLG1,missense_variant,p.Glu606Val,ENST00000443183,NM_001204387.1;DLG1,splice_region_variant,,ENST00000469371,;DLG1,splice_region_variant,,ENST00000475394,;DLG1,splice_region_variant,,ENST00000470629,;DLG1,downstream_gene_variant,,ENST00000419227,;					1		MODERATE	2129/2715	E710V	DLG1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000407531		CCDS43194.1			1	
TNNI3K	0	LGGM	GRCh37	1	74954890	74954890	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	33	22	.	.	ENST00000370891.2:c.2442T>A	p.Ser814=	p.S814=	ENST00000370891	NM_001112808.2	814	tcT/tcA	0	1		UPI0000035B8F	0		ENST00000326637		ENSG00000116783	19661		55			HGNC	p.S814S		TNNI3K		SNV							ENST00000557284	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF63,hmmpanther:PTHR23257,Pfam_domain:PF07714,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		S		A		2190/3001								TNNI3K,synonymous_variant,p.=,ENST00000370891,NM_001112808.2;TNNI3K,synonymous_variant,p.=,ENST00000326637,NM_015978.2;FPGT-TNNI3K,synonymous_variant,p.=,ENST00000557284,;LRRC53,intron_variant,,ENST00000294635,;							LOW	2139/2508		TNI3K_HUMAN			Transcript			.	ENSP00000322251		CCDS664.1			1	
ZNF519	0	LGGM	GRCh37	18	14105806	14105806	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	57	22	.	.	ENST00000590202.1:c.733A>T	p.Ile245Leu	p.I245L	ENST00000590202	NM_145287.3	245	Ata/Tta	0	1	1	UPI0000201A41	0	NA	ENST00000590202		ENSG00000175322	30574		79	-0.345		HGNC	p.I245L		ZNF519		SNV							ENST00000590202	protein_coding	getma.org/?cm=var&var=hg19,18,14105806,T,A&fts=all		hmmpanther:PTHR24384:SF97,hmmpanther:PTHR24384,Superfamily_domains:SSF57667		I/L		A	neutral	886/1972		getma.org/?cm=msa&ty=f&p=ZN519_HUMAN&rb=245&re=280&var=I245L	deleterious(0.01)				YES	ZNF519,missense_variant,p.Ile245Leu,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,;							MODERATE	733/1623	I245L	ZN519_HUMAN			Transcript		benign(0.001)	.	ENSP00000464872		CCDS32797.1			1	
NUB1	0	LGGM	GRCh37	7	151052853	151052853	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	38	23	.	.	ENST00000568733.1:c.488-1G>A		p.X163_splice	ENST00000568733				0	1	1	UPI00021CF908	0		ENST00000568733		ENSG00000013374	17623		61			HGNC	-		NUB1		SNV							ENST00000413040	protein_coding							A		-/3210				H3BM74_HUMAN,C9JRT6_HUMAN,C9J7X7_HUMAN			YES	NUB1,splice_acceptor_variant,,ENST00000568733,;NUB1,splice_acceptor_variant,,ENST00000413040,;NUB1,splice_acceptor_variant,,ENST00000355851,NM_001243351.1;NUB1,splice_acceptor_variant,,ENST00000566856,NM_016118.4;NUB1,splice_acceptor_variant,,ENST00000483358,;NUB1,splice_acceptor_variant,,ENST00000470229,;NUB1,splice_acceptor_variant,,ENST00000477666,;NUB1,splice_acceptor_variant,,ENST00000470316,;NUB1,splice_acceptor_variant,,ENST00000468404,;NUB1,splice_acceptor_variant,,ENST00000480907,;NUB1,splice_acceptor_variant,,ENST00000493588,;NUB1,upstream_gene_variant,,ENST00000497987,;							HIGH	488/1920					Transcript			.	ENSP00000454264		CCDS59089.1			1	
OR5K3	0	LGGM	GRCh37	3	98109942	98109942	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	93	23	.	.	ENST00000383695.1:c.433A>T	p.Thr145Ser	p.T145S	ENST00000383695	NM_001005516.1	145	Act/Tct	0	1	1	UPI000044D40F	0	NA	ENST00000383695		ENSG00000206536	31290		116	1.04		HGNC	p.T145S		OR5K3		SNV							ENST00000383695	protein_coding	getma.org/?cm=var&var=hg19,3,98109942,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF247,Superfamily_domains:SSF81321		T/S		T	low	433/966		getma.org/?cm=msa&ty=f&p=OR5K3_HUMAN&rb=139&re=281&var=T145S	tolerated(0.25)				YES	OR5K3,missense_variant,p.Thr145Ser,ENST00000383695,NM_001005516.1;RP11-325B23.2,intron_variant,,ENST00000508616,;							MODERATE	433/966	T145S	OR5K3_HUMAN			Transcript		benign(0.038)	.	ENSP00000373194		CCDS33803.1			1	
TRERF1	0	LGGM	GRCh37	6	42214209	42214209	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	49	23	.	.	ENST00000372922.4:c.2730T>A	p.Ile910=	p.I910=	ENST00000372922	NM_033502.2	910	atT/atA	0	1	1	UPI0000052952	0		ENST00000372922		ENSG00000124496	18273		72			HGNC	p.I827I		TRERF1		SNV							ENST00000372917	protein_coding			PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689		I		T		3293/7286							YES	TRERF1,synonymous_variant,p.=,ENST00000541110,;TRERF1,synonymous_variant,p.=,ENST00000372917,;TRERF1,synonymous_variant,p.=,ENST00000372922,NM_033502.2;TRERF1,synonymous_variant,p.=,ENST00000340840,;TRERF1,synonymous_variant,p.=,ENST00000354325,;							LOW	2730/3603		TREF1_HUMAN			Transcript			.	ENSP00000362013		CCDS4867.1			1	
DHRS7C	0	LGGM	GRCh37	17	9680541	9680541	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	19	24	.	.	ENST00000330255.5:c.543A>T	p.Gln181His	p.Q181H	ENST00000330255	NM_001105571.2	181	caA/caT	0	1	1	UPI000178DECB	0	getma.org/pdb.php?prot=DRS7C_HUMAN&from=38&to=211&var=Q181H	ENST00000330255		ENSG00000184544	32423		43	2.65		HGNC	p.Q181H		DHRS7C		SNV							ENST00000330255	protein_coding	getma.org/?cm=var&var=hg19,17,9680541,T,A&fts=all		hmmpanther:PTHR24322:SF254,hmmpanther:PTHR24322,PROSITE_patterns:PS00061,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735,Prints_domain:PR00081		Q/H		A	medium	556/1006		getma.org/?cm=msa&ty=f&p=DRS7C_HUMAN&rb=38&re=211&var=Q181H	deleterious(0)				YES	DHRS7C,missense_variant,p.Gln181His,ENST00000330255,NM_001105571.2,NM_001220493.1;DHRS7C,missense_variant,p.Gln180His,ENST00000571134,;DHRS7C,missense_variant,p.Gln53His,ENST00000571771,;							MODERATE	543/939	Q181H	DRS7C_HUMAN			Transcript		benign(0.35)	.	ENSP00000327975		CCDS56020.1			1	
SOGA2	0	LGGM	GRCh37	18	8831621	8831621	+	3_prime_UTR_variant	3'UTR	SNP	C	C	G	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	39	24	.	.	ENST00000359865.3:c.*35C>G		*12*	ENST00000359865	NM_015210.3			0	1		UPI0001AE65C5	0		ENST00000306329		ENSG00000168502	29121		63		2677	HGNC	p.A905G		SOGA2		SNV							ENST00000306285	protein_coding							G		-/5718				J3QLE1_HUMAN				SOGA2,missense_variant,p.Ala905Gly,ENST00000306285,;SOGA2,missense_variant,p.Ala905Gly,ENST00000518815,;SOGA2,3_prime_UTR_variant,,ENST00000359865,NM_015210.3;SOGA2,3_prime_UTR_variant,,ENST00000517570,;SOGA2,3_prime_UTR_variant,,ENST00000400050,;SOGA2,downstream_gene_variant,,ENST00000306329,;SOGA2,non_coding_transcript_exon_variant,,ENST00000581670,;							MODIFIER	-/5718		SOGA2_HUMAN			Transcript			.	ENSP00000305027					1	
LARS	0	LGGM	GRCh37	5	145493785	145493785	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	24	.	.	ENST00000394434.2:c.3415A>G	p.Thr1139Ala	p.T1139A	ENST00000394434	NM_020117.9	1139	Acc/Gcc	0	1	1	UPI0000037316	0	NA	ENST00000394434		ENSG00000133706	6512		68	2.045		HGNC	p.T1093A	rs774502576	LARS		SNV			1				ENST00000545646	protein_coding	getma.org/?cm=var&var=hg19,5,145493785,T,C&fts=all				T/A		C	medium	3582/4766	3.00E-05	getma.org/?cm=msa&ty=f&p=SYLC_HUMAN&rb=1129&re=1176&var=T1139A	tolerated(0.37)	Q9NVC0_HUMAN,Q9NPU8_HUMAN,Q9HAM7_HUMAN,Q2TU79_HUMAN,B4DJ10_HUMAN,B3KXA9_HUMAN			YES	LARS,missense_variant,p.Thr1139Ala,ENST00000394434,NM_020117.9;LARS,missense_variant,p.Thr1112Ala,ENST00000274562,;LARS,missense_variant,p.Thr1093Ala,ENST00000545646,;LARS,missense_variant,p.Thr1085Ala,ENST00000510191,;RP11-118M9.3,intron_variant,,ENST00000514002,;LARS,non_coding_transcript_exon_variant,,ENST00000506231,;							MODERATE	3415/3531	T1139A	SYLC_HUMAN			Transcript		benign(0.005)	.	ENSP00000377954	1.65E-05	CCDS34265.1			1	
HTR1E	0	LGGM	GRCh37	6	87725392	87725392	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	37	24	.	.	ENST00000305344.5:c.340T>A	p.Cys114Ser	p.C114S	ENST00000305344	NM_000865.2	114	Tgt/Agt	0	1	1	UPI000000126D	0	getma.org/pdb.php?prot=5HT1E_HUMAN&from=39&to=344&var=C114S	ENST00000305344		ENSG00000168830	5291		61	0.835		HGNC	p.C114S		HTR1E		SNV							ENST00000369584	protein_coding	getma.org/?cm=var&var=hg19,6,87725392,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF33,hmmpanther:PTHR24247,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		C/S		A	low	1043/2000		getma.org/?cm=msa&ty=f&p=5HT1E_HUMAN&rb=39&re=344&var=C114S	tolerated(0.11)				YES	HTR1E,missense_variant,p.Cys114Ser,ENST00000305344,NM_000865.2;							MODERATE	340/1098	C114S	5HT1E_HUMAN			Transcript		benign(0.124)	.	ENSP00000307766		CCDS5006.1			1	
SCN4A	0	LGGM	GRCh37	17	62049966	62049966	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	17	24	.	.	ENST00000435607.1:c.236C>T	p.Pro79Leu	p.P79L	ENST00000435607	NM_000334.4	79	cCc/cTc	0	1	1	UPI0000201254	0	NA	ENST00000435607		ENSG00000007314	10591		41	3.11		HGNC	p.P79L		SCN4A		SNV			1				ENST00000435607	protein_coding	getma.org/?cm=var&var=hg19,17,62049966,G,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193		P/L		A	medium	313/7805		getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1&re=158&var=P79L	deleterious(0)	Q9H3L9_HUMAN			YES	SCN4A,missense_variant,p.Pro79Leu,ENST00000435607,NM_000334.4;SCN4A,missense_variant,p.Pro79Leu,ENST00000578147,;CTC-264K15.6,downstream_gene_variant,,ENST00000577329,;							MODERATE	236/5511	P79L	SCN4A_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000396320		CCDS45761.1			1	
TOPAZ1	0	LGGM	GRCh37	3	44351361	44351361	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	78	25	.	.	ENST00000309765.4:c.4185T>C	p.Phe1395=	p.F1395=	ENST00000309765	NM_001145030.1	1395	ttT/ttC	0	1	1	UPI000047FF75	0		ENST00000309765		ENSG00000173769	24746		103			HGNC	p.F1395F	rs778433716	TOPAZ1		SNV							ENST00000309765	protein_coding			Pfam_domain:PF14669		F		C		4353/5334							YES	TOPAZ1,synonymous_variant,p.=,ENST00000309765,NM_001145030.1;							LOW	4185/5079		TOPZ1_HUMAN			Transcript			.	ENSP00000310303		CCDS46809.1			1	
NAIP	0	LGGM	GRCh37	5	70308702	70308702	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	45	25	.	.	ENST00000517649.1:c.41A>T	p.Gln14Leu	p.Q14L	ENST00000517649	NM_004536.2	14	cAg/cTg	0	1		UPI000013C609	0	NA	ENST00000194097		ENSG00000249437	7634		70	0.345		HGNC	p.Q14L		NAIP		SNV			1				ENST00000508426	protein_coding	getma.org/?cm=var&var=hg19,5,70308702,T,A&fts=all		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF94		Q/L		A	neutral	296/6088		getma.org/?cm=msa&ty=f&p=BIRC1_HUMAN&rb=1&re=50&var=Q14L	deleterious(0.01)	B4DHI2_HUMAN				NAIP,missense_variant,p.Gln14Leu,ENST00000517649,NM_004536.2;NAIP,missense_variant,p.Gln14Leu,ENST00000194097,;NAIP,missense_variant,p.Gln14Leu,ENST00000508426,;NAIP,intron_variant,,ENST00000523981,NM_022892.1;NAIP,intron_variant,,ENST00000503719,;NAIP,missense_variant,p.Gln14Leu,ENST00000519014,;NAIP,intron_variant,,ENST00000508794,;NAIP,upstream_gene_variant,,ENST00000447012,;							MODERATE	41/4212	Q14L	BIRC1_HUMAN			Transcript		benign(0.218)	.	ENSP00000443944		CCDS4009.1			1	
TAS2R1	0	LGGM	GRCh37	5	9629471	9629471	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	26	25	.	.	ENST00000382492.2:c.674G>A	p.Ser225Asn	p.S225N	ENST00000382492	NM_019599.2	225	aGc/aAc	0	1	1	UPI0000038B09	0	NA	ENST00000382492		ENSG00000169777	14909		51	1.545		HGNC	p.S225N		TAS2R1		SNV							ENST00000382492	protein_coding	getma.org/?cm=var&var=hg19,5,9629471,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF36,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/N		T	low	993/1355		getma.org/?cm=msa&ty=f&p=TA2R1_HUMAN&rb=1&re=296&var=S225N	tolerated(0.09)	U3KQT0_HUMAN,U3KPZ8_HUMAN,Q50L07_HUMAN			YES	TAS2R1,missense_variant,p.Ser225Asn,ENST00000382492,NM_019599.2;TAS2R1,downstream_gene_variant,,ENST00000514078,;TAS2R1,downstream_gene_variant,,ENST00000506620,;CTD-2001E22.1,intron_variant,,ENST00000504182,;							MODERATE	674/900	S225N	TA2R1_HUMAN			Transcript		benign(0.085)	.	ENSP00000371932		CCDS3876.1			1	
SCN10A	0	LGGM	GRCh37	3	38739829	38739829	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	73	25	.	.	ENST00000449082.2:c.4882A>T	p.Ser1628Cys	p.S1628C	ENST00000449082	NM_006514.2	1628	Agc/Tgc	0	1	1	UPI0000209BDA	0	getma.org/pdb.php?prot=SCNAA_HUMAN&from=1510&to=1721&var=S1628C	ENST00000449082		ENSG00000185313	10582		98	1.055		HGNC	p.S1628C		SCN10A		SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38739829,T,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Superfamily_domains:SSF81324		S/C		A	low	4882/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1510&re=1721&var=S1628C	deleterious(0.02)				YES	SCN10A,missense_variant,p.Ser1628Cys,ENST00000449082,NM_006514.2;							MODERATE	4882/5871	S1628C	SCNAA_HUMAN			Transcript		benign(0.033)	.	ENSP00000390600		CCDS33736.1			1	
COL12A1	0	LGGM	GRCh37	6	75836139	75836139	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	44	25	.	.	ENST00000322507.8:c.6388A>T	p.Thr2130Ser	p.T2130S	ENST00000322507	NM_004370.5	2130	Aca/Tca	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=2117&to=2195&var=T2130S	ENST00000322507		ENSG00000111799	2188		69	1.575		HGNC	p.T966S		COL12A1		SNV			1				ENST00000345356	protein_coding	getma.org/?cm=var&var=hg19,6,75836139,T,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/S		A	low	6698/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=2117&re=2195&var=T2130S					YES	COL12A1,missense_variant,p.Thr2130Ser,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Thr2130Ser,ENST00000483888,;COL12A1,missense_variant,p.Thr2130Ser,ENST00000416123,;COL12A1,missense_variant,p.Thr966Ser,ENST00000345356,NM_080645.2;							MODERATE	6388/9192	T2130S	COCA1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000325146		CCDS43482.1			1	
TTN	0	LGGM	GRCh37	2	179583896	179583896	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	90	26	.	.	ENST00000589042.1:c.24221T>A	p.Val8074Glu	p.V8074E	ENST00000589042	NM_001267550.1	8074	gTg/gAg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=7668&to=7757&var=V7757E	ENST00000591111		ENSG00000155657	12403		116	4.365		HGNC	p.V6830E		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179583896,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/E		T	high	23495/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=7668&re=7757&var=V7757E		C9JQJ2_HUMAN				TTN,missense_variant,p.Val8074Glu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val7757Glu,ENST00000591111,;TTN,missense_variant,p.Val6830Glu,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,;TTN-AS1,downstream_gene_variant,,ENST00000431752,;							MODERATE	23270/103053	V7757E	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ZBTB46	0	LGGM	GRCh37	20	62421419	62421419	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	18	26	.	.	ENST00000245663.4:c.692A>T	p.Glu231Val	p.E231V	ENST00000245663	NM_025224.3	231	gAg/gTg	0	1	1	UPI0000206406	0	NA	ENST00000245663		ENSG00000130584	16094		44	1.955		HGNC	p.E231V		ZBTB46		SNV							ENST00000395104	protein_coding	getma.org/?cm=var&var=hg19,20,62421419,T,A&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118		E/V		A	medium	843/5185		getma.org/?cm=msa&ty=f&p=ZBT46_HUMAN&rb=140&re=405&var=E231V	deleterious(0.01)				YES	ZBTB46,missense_variant,p.Glu231Val,ENST00000245663,NM_025224.3;ZBTB46,missense_variant,p.Glu231Val,ENST00000395104,;ZBTB46,missense_variant,p.Glu231Val,ENST00000302995,;ZBTB46,upstream_gene_variant,,ENST00000480766,;							MODERATE	692/1770	E231V	ZBT46_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000245663		CCDS13538.1			1	
GPR98	0	LGGM	GRCh37	5	89949769	89949769	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	61	27	.	.	ENST00000405460.2:c.4378G>T	p.Gly1460Cys	p.G1460C	ENST00000405460	NM_032119.3	1460	Ggt/Tgt	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		88	2.125		HGNC	p.G1460C		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89949769,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF49899		G/C		T	medium	4474/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1326&re=1496&var=G1460C					YES	GPR98,missense_variant,p.Gly1460Cys,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Gly1049Cys,ENST00000504142,;							MODERATE	4378/18921	G1460C	GPR98_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000384582		CCDS47246.1			1	
NAV3	0	LGGM	GRCh37	12	78513652	78513652	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	42	27	.	.	ENST00000536525.2:c.3676A>T	p.Ser1226Cys	p.S1226C	ENST00000536525	NM_014903.4	1226	Agc/Tgc	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		69	0.345		HGNC	p.S1226C		NAV3		SNV							ENST00000536525	protein_coding	getma.org/?cm=var&var=hg19,12,78513652,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		S/C		T	neutral	3849/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=670&re=1929&var=S1226C	deleterious(0.01)	F8VZV4_HUMAN				NAV3,missense_variant,p.Ser1226Cys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ser1226Cys,ENST00000228327,;NAV3,missense_variant,p.Ser1226Cys,ENST00000266692,;NAV3,missense_variant,p.Ser1226Cys,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Ser298Cys,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;							MODERATE	3676/7158	S1226C	NAV3_HUMAN			Transcript		benign(0.291)	.	ENSP00000381007		CCDS66432.1			1	
MORC1	0	LGGM	GRCh37	3	108682344	108682344	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	92	28	.	.	ENST00000232603.5:c.2716T>A	p.Cys906Ser	p.C906S	ENST00000232603	NM_014429.3	906	Tgt/Agt	0	1	1	UPI000013C964	0	NA	ENST00000232603		ENSG00000114487	7198		120	1.04		HGNC	p.C906S		MORC1		SNV							ENST00000232603	protein_coding	getma.org/?cm=var&var=hg19,3,108682344,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6		C/S		T	low	2799/3764		getma.org/?cm=msa&ty=f&p=MORC1_HUMAN&rb=611&re=982&var=C906S	tolerated(0.08)				YES	MORC1,missense_variant,p.Cys906Ser,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Cys885Ser,ENST00000483760,;							MODERATE	2716/2955	C906S	MORC1_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000232603		CCDS2955.1			1	
MYH2	0	LGGM	GRCh37	17	10428850	10428850	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	21	28	.	.	ENST00000245503.5:c.4455T>A	p.Thr1485=	p.T1485=	ENST00000245503	NM_017534.5	1485	acT/acA	0	1	1	UPI000012FB6C	0		ENST00000245503		ENSG00000125414	7572		49			HGNC	p.T1485T		MYH2		SNV			1				ENST00000397183	protein_coding			Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Superfamily_domains:SSF90257		T		T		4840/6339				J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN			YES	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,;							LOW	4455/5826		MYH2_HUMAN			Transcript			.	ENSP00000245503		CCDS11156.1			1	
UGT1A3	0	LGGM	GRCh37	2	234638240	234638240	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	90	28	.	.	ENST00000482026.1:c.468C>T	p.Leu156=	p.L156=	ENST00000482026		156	ctC/ctT	0	1	1	UPI0000001045	0		ENST00000482026		ENSG00000243135	12535		118			HGNC	p.L156L		UGT1A3		SNV							ENST00000482026	protein_coding			hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926,Pfam_domain:PF00201,Superfamily_domains:SSF53756		L		T		487/2364				Q8WX91_HUMAN,A9UKC8_HUMAN,A7E1U5_HUMAN,Q5DT01_HUMAN			YES	UGT1A3,synonymous_variant,p.=,ENST00000482026,;UGT1A8,synonymous_variant,p.=,ENST00000609767,NM_019093.2;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;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,non_coding_transcript_exon_variant,,ENST00000478062,;UGT1A6,intron_variant,,ENST00000480628,;UGT1A4,intron_variant,,ENST00000450233,;UGT1A6,intron_variant,,ENST00000446481,;UGT1A6,intron_variant,,ENST00000484784,;							LOW	468/1605		UD13_HUMAN			Transcript			.	ENSP00000418532		CCDS2509.1			1	
SLCO1B3	0	LGGM	GRCh37	12	21032559	21032559	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	69	28	.	.	ENST00000381545.3:c.1325A>T	p.Tyr442Phe	p.Y442F	ENST00000381545	NM_019844.3	442	tAt/tTt	0	1		UPI000013544A	0	NA	ENST00000261196		ENSG00000111700	10961		97	2.84		HGNC	p.Y442F		SLCO1B3		SNV			1				ENST00000553473	protein_coding	getma.org/?cm=var&var=hg19,12,21032559,A,T&fts=all		TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,PROSITE_profiles:PS50850		Y/F		T	medium	1451/2712		getma.org/?cm=msa&ty=f&p=SO1B3_HUMAN&rb=27&re=622&var=Y442F	deleterious(0.01)	F5H8K0_HUMAN				SLCO1B3,missense_variant,p.Tyr442Phe,ENST00000381545,NM_019844.3;SLCO1B3,missense_variant,p.Tyr442Phe,ENST00000261196,;LST3,missense_variant,p.Tyr442Phe,ENST00000540229,;SLCO1B3,missense_variant,p.Tyr442Phe,ENST00000553473,;SLCO1B3,missense_variant,p.Tyr266Phe,ENST00000544370,;LST3,intron_variant,,ENST00000381541,;SLCO1B7,intron_variant,,ENST00000554957,;SLCO1B3,downstream_gene_variant,,ENST00000540853,;							MODERATE	1325/2109	Y442F	SO1B3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000261196		CCDS8684.1			1	
ZKSCAN7	0	LGGM	GRCh37	3	44607080	44607080	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	70	29	.	.	ENST00000273320.3:c.525A>T	p.Ser175=	p.S175=	ENST00000273320	NM_018651.2	175	tcA/tcT	0	1	1	UPI000013D9A9	0		ENST00000273320		ENSG00000196345	12955		99			HGNC	p.S175S		ZKSCAN7		SNV							ENST00000418719	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF205		S		T		954/3477							YES	ZKSCAN7,synonymous_variant,p.=,ENST00000273320,NM_018651.2,NM_001288590.1;ZKSCAN7,synonymous_variant,p.=,ENST00000426540,;ZKSCAN7,synonymous_variant,p.=,ENST00000341840,NM_025169.1;ZKSCAN7,synonymous_variant,p.=,ENST00000431636,NM_001288591.1;ZKSCAN7,synonymous_variant,p.=,ENST00000447279,NM_001288592.1;RP11-944L7.5,synonymous_variant,p.=,ENST00000419137,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZKSCAN7,synonymous_variant,p.=,ENST00000418719,;ZKSCAN7,non_coding_transcript_exon_variant,,ENST00000496563,;							LOW	525/2265		ZKSC7_HUMAN			Transcript			.	ENSP00000273320		CCDS2715.1			1	
TSHZ2	0	LGGM	GRCh37	20	51873049	51873049	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	42	29	.	.	ENST00000371497.5:c.3052A>T	p.Ser1018Cys	p.S1018C	ENST00000371497	NM_173485.5	1018	Agc/Tgc	0	1	1	UPI0000206747	0	NA	ENST00000371497		ENSG00000182463	13010		71	1.5		HGNC	p.S1015C		TSHZ2		SNV							ENST00000329613	protein_coding	getma.org/?cm=var&var=hg19,20,51873049,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487,Pfam_domain:PF12756		S/C		T	low	3939/12187		getma.org/?cm=msa&ty=f&p=TSH2_HUMAN&rb=925&re=1033&var=S1018C	deleterious(0)	S4R3C8_HUMAN			YES	TSHZ2,missense_variant,p.Ser1018Cys,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,missense_variant,p.Ser1015Cys,ENST00000603338,;TSHZ2,missense_variant,p.Ser1015Cys,ENST00000329613,;RP4-678D15.1,non_coding_transcript_exon_variant,,ENST00000606932,;TSHZ2,missense_variant,p.Ser178Cys,ENST00000605656,;							MODERATE	3052/3105	S1018C	TSH2_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000360552		CCDS33490.1			1	
CENPE	0	LGGM	GRCh37	4	104053893	104053893	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	26	29	.	.	ENST00000265148.3:c.6881A>T	p.Asp2294Val	p.D2294V	ENST00000265148	NM_001813.2	2294	gAt/gTt	0	1	1	UPI000020B28A	0	NA	ENST00000265148		ENSG00000138778	1856		55	1.5		HGNC	p.D2294V		CENPE		SNV			1				ENST00000265148	protein_coding	getma.org/?cm=var&var=hg19,4,104053893,T,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		D/V		A	low	6971/8612		getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=2061&re=2700&var=D2294V		D6RBW0_HUMAN			YES	CENPE,missense_variant,p.Asp2294Val,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Asp2173Val,ENST00000380026,NM_001286734.1;							MODERATE	6881/8106	D2294V	CENPE_HUMAN			Transcript		possibly_damaging(0.47)	.	ENSP00000265148		CCDS34042.1			1	
ZNF99	0	LGGM	GRCh37	19	22941102	22941102	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	80	29	.	.	ENST00000596209.1:c.1609T>A	p.Tyr537Asn	p.Y537N	ENST00000596209	NM_001080409.2	537	Tac/Aac	0	1	1	UPI0000426011	0	getma.org/pdb.php?prot=ZNF99_HUMAN&from=432&to=457&var=Y446N	ENST00000596209		ENSG00000213973	13175		109	2.415		HGNC	p.Y537N		ZNF99		SNV							ENST00000596209	protein_coding	getma.org/?cm=var&var=hg19,19,22941102,A,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157		Y/N		T	medium	1700/2686		getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=412&re=477&var=Y446N	deleterious(0)	M0R335_HUMAN			YES	ZNF99,missense_variant,p.Tyr446Asn,ENST00000397104,;ZNF99,missense_variant,p.Tyr537Asn,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODERATE	1609/2595	Y446N				Transcript		possibly_damaging(0.885)	.	ENSP00000472969		CCDS59369.1			1	
OR5J2	0	LGGM	GRCh37	11	55944434	55944434	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	43	29	.	.	ENST00000312298.1:c.341T>A	p.Leu114Ter	p.L114*	ENST00000312298	NM_001005492.1	114	tTa/tAa	0	1	1	UPI000004B232	0	NA	ENST00000312298		ENSG00000174957	19612		72	0		HGNC	p.L114X		OR5J2		SNV							ENST00000312298	protein_coding	getma.org/?cm=var&var=hg19,11,55944434,T,A&fts=all		Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF102,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/*		A	NA	341/939		NA					YES	OR5J2,stop_gained,p.Leu114Ter,ENST00000312298,NM_001005492.1;							HIGH	341/939	L114*	OR5J2_HUMAN			Transcript			.	ENSP00000310788		CCDS31522.1			1	
ANAPC4	0	LGGM	GRCh37	4	25419236	25419236	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	45	30	.	.	ENST00000315368.3:c.2076-2A>T		p.X692_splice	ENST00000315368	NM_013367.2			0	1	1	UPI000013D583	0		ENST00000315368		ENSG00000053900	19990		75			HGNC	-		ANAPC4		SNV							ENST00000315368	protein_coding							T		-/2685				D6RAP6_HUMAN			YES	ANAPC4,splice_acceptor_variant,,ENST00000315368,NM_013367.2;ANAPC4,splice_acceptor_variant,,ENST00000510092,NM_001286756.1;ANAPC4,splice_acceptor_variant,,ENST00000506973,;ANAPC4,splice_acceptor_variant,,ENST00000515848,;ANAPC4,non_coding_transcript_exon_variant,,ENST00000504256,;ANAPC4,downstream_gene_variant,,ENST00000505842,;							HIGH	2076/2427		APC4_HUMAN			Transcript			.	ENSP00000318775		CCDS3434.1			1	
MAGI3	0	LGGM	GRCh37	1	114157229	114157229	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	61	30	.	.	ENST00000307546.9:c.1025C>G	p.Pro342Arg	p.P342R	ENST00000307546	NM_001142782.1	342	cCt/cGt	0	1	1	UPI00004589AE	0	getma.org/pdb.php?prot=MAGI3_HUMAN&from=339&to=372&var=P342R	ENST00000307546		ENSG00000081026	29647		91	1.445		HGNC	p.P342R		MAGI3		SNV							ENST00000369617	protein_coding	getma.org/?cm=var&var=hg19,1,114157229,C,G&fts=all		Gene3D:2.20.70.10,Pfam_domain:PF00397,PROSITE_profiles:PS50020,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF10,SMART_domains:SM00456,Superfamily_domains:SSF51045		P/R		G	low	1100/6430		getma.org/?cm=msa&ty=f&p=MAGI3_HUMAN&rb=339&re=372&var=P342R	deleterious(0)				YES	MAGI3,missense_variant,p.Pro342Arg,ENST00000369615,NM_152900.2;MAGI3,missense_variant,p.Pro342Arg,ENST00000307546,NM_001142782.1;MAGI3,missense_variant,p.Pro342Arg,ENST00000369617,;MAGI3,missense_variant,p.Pro342Arg,ENST00000369611,;							MODERATE	1025/4446	P342R	MAGI3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304604		CCDS44196.1			1	
SLC9C1	0	LGGM	GRCh37	3	111887862	111887862	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	39	30	.	.	ENST00000305815.5:c.3099A>T	p.Val1033=	p.V1033=	ENST00000305815	NM_183061.1	1033	gtA/gtT	0	1	1	UPI00002372C5	0		ENST00000305815		ENSG00000172139	31401		69			HGNC	p.V1033V		SLC9C1		SNV							ENST00000305815	protein_coding			hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87		V		A		3352/4172				C9J3M6_HUMAN			YES	SLC9C1,synonymous_variant,p.=,ENST00000305815,NM_183061.1;SLC9C1,synonymous_variant,p.=,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;							LOW	3099/3534		SL9C1_HUMAN			Transcript			.	ENSP00000306627		CCDS33817.1			1	
SIGLEC9	0	LGGM	GRCh37	19	51628940	51628940	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	67	30	.	.	ENST00000440804.3:c.508T>A	p.Cys170Ser	p.C170S	ENST00000440804	NM_001198558.1	170	Tgt/Agt	0	1		UPI00000389EE	0	getma.org/pdb.php?prot=SIGL9_HUMAN&from=157&to=215&var=C170S	ENST00000250360		ENSG00000129450	10878		97	2.275		HGNC	p.C170S		SIGLEC9		SNV							ENST00000440804	protein_coding	getma.org/?cm=var&var=hg19,19,51628940,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/S		A	medium	575/1690		getma.org/?cm=msa&ty=f&p=SIGL9_HUMAN&rb=157&re=215&var=C170S	deleterious(0)					SIGLEC9,missense_variant,p.Cys170Ser,ENST00000440804,NM_001198558.1;SIGLEC9,missense_variant,p.Cys170Ser,ENST00000250360,NM_014441.2;SIGLEC9,upstream_gene_variant,,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;							MODERATE	508/1392	C170S	SIGL9_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000250360		CCDS12825.1			1	
RIMS2	0	LGGM	GRCh37	8	104948880	104948880	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	122	30	.	.	ENST00000406091.3:c.2477A>T	p.Glu826Val	p.E826V	ENST00000406091	NM_001100117.2	826	gAa/gTa	0	1	1	UPI0001597063	0	getma.org/pdb.php?prot=RIMS2_HUMAN&from=822&to=913&var=E888V	ENST00000406091		ENSG00000176406	17283		152	2.115		HGNC	p.E618V		RIMS2		SNV							ENST00000408894	protein_coding	getma.org/?cm=var&var=hg19,8,104948880,A,T&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		E/V		T	medium	2477/4050		getma.org/?cm=msa&ty=f&p=RIMS2_HUMAN&rb=822&re=913&var=E888V	deleterious_low_confidence(0)	E9PFB6_HUMAN			YES	RIMS2,missense_variant,p.Glu618Val,ENST00000507740,NM_014677.4;RIMS2,missense_variant,p.Glu604Val,ENST00000436393,;RIMS2,missense_variant,p.Glu826Val,ENST00000406091,NM_001100117.2;RIMS2,missense_variant,p.Glu618Val,ENST00000408894,;RIMS2,missense_variant,p.Glu665Val,ENST00000262231,NM_001282881.1;RIMS2,missense_variant,p.Glu826Val,ENST00000504942,;RIMS2,missense_variant,p.Glu618Val,ENST00000515551,;RIMS2,non_coding_transcript_exon_variant,,ENST00000507677,;							MODERATE	2477/4050	E888V	RIMS2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000384892		CCDS55269.1			1	
PMP2	0	LGGM	GRCh37	8	82357054	82357054	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	25	31	.	.	ENST00000256103.2:c.244A>T	p.Lys82Ter	p.K82*	ENST00000256103	NM_002677.3	82	Aag/Tag	0	1	1	UPI000013CEEB	0	NA	ENST00000256103		ENSG00000147588	9117		56	0		HGNC	p.K82X		PMP2		SNV							ENST00000256103	protein_coding	getma.org/?cm=var&var=hg19,8,82357054,T,A&fts=all		Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF64,Superfamily_domains:SSF50814		K/*		A	NA	381/3608		NA					YES	PMP2,stop_gained,p.Lys82Ter,ENST00000256103,NM_002677.3;PMP2,intron_variant,,ENST00000519260,;RP11-157I4.4,intron_variant,,ENST00000524085,;							HIGH	244/399	K82*	MYP2_HUMAN			Transcript			.	ENSP00000256103		CCDS6229.1			1	
RASEF	0	LGGM	GRCh37	9	85630817	85630817	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	32	.	.	ENST00000376447.3:c.670-2A>T		p.X224_splice	ENST00000376447	NM_152573.3			0	1	1	UPI0000074189	0		ENST00000376447		ENSG00000165105	26464		72			HGNC	-		RASEF		SNV							ENST00000376447	protein_coding							A		-/5576							YES	RASEF,splice_acceptor_variant,,ENST00000376447,NM_152573.3;							HIGH	670/2223		RASEF_HUMAN			Transcript			.	ENSP00000365630		CCDS6662.1			1	
PCDH1	0	LGGM	GRCh37	5	141243262	141243262	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	88	32	.	.	ENST00000287008.3:c.2634A>T	p.Arg878Ser	p.R878S	ENST00000287008	NM_032420.3	878	agA/agT	0	1		UPI0000074735	0	NA	ENST00000394536		ENSG00000156453	8655		120	2.265		HGNC	p.R878S	COSM399998	PCDH1		SNV						1	ENST00000287008	protein_coding	getma.org/?cm=var&var=hg19,5,141243262,T,A&fts=all		hmmpanther:PTHR24027:SF30,hmmpanther:PTHR24027,Pfam_domain:PF08374		R/S		A	medium	2774/3819		getma.org/?cm=msa&ty=f&p=PCDH1_HUMAN&rb=815&re=1029&var=R878S	deleterious(0.02)	F5H3L5_HUMAN,D6RBG2_HUMAN				PCDH1,missense_variant,p.Arg878Ser,ENST00000287008,NM_032420.3;PCDH1,missense_variant,p.Arg878Ser,ENST00000394536,NM_002587.4,NM_001278615.1;PCDH1,missense_variant,p.Arg866Ser,ENST00000456271,;PCDH1,missense_variant,p.Arg889Ser,ENST00000357517,;PCDH1,missense_variant,p.Arg856Ser,ENST00000536585,NM_001278613.1;PCDH1,intron_variant,,ENST00000503492,;PCDH1,non_coding_transcript_exon_variant,,ENST00000511044,;PCDH1,3_prime_UTR_variant,,ENST00000515351,;PCDH1,downstream_gene_variant,,ENST00000505937,;					1		MODERATE	2634/3183	R878S	PCDH1_HUMAN			Transcript		benign(0.359)	.	ENSP00000378043		CCDS43375.1			1	
UFL1	0	LGGM	GRCh37	6	96985366	96985366	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	66	33	.	.	ENST00000369278.4:c.919G>T	p.Asp307Tyr	p.D307Y	ENST00000369278	NM_015323.4	307	Gat/Tat	0	1	1	UPI0000072D61	0	NA	ENST00000369278		ENSG00000014123	23039		99	2.515		HGNC	p.D307Y		UFL1		SNV							ENST00000369278	protein_coding	getma.org/?cm=var&var=hg19,6,96985366,G,T&fts=all		hmmpanther:PTHR31057,hmmpanther:PTHR31057:SF0		D/Y		T	medium	985/4224		getma.org/?cm=msa&ty=f&p=UFL1_HUMAN&rb=286&re=485&var=D307Y	deleterious(0)	B7ZAY8_HUMAN			YES	UFL1,missense_variant,p.Asp307Tyr,ENST00000369278,NM_015323.4;							MODERATE	919/2385	D307Y	UFL1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000358283		CCDS5034.1			1	
ZNF346	0	LGGM	GRCh37	5	176489065	176489065	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	60	33	.	.	ENST00000358149.3:c.710A>T	p.Lys237Met	p.K237M	ENST00000358149	NM_012279.2	237	aAg/aTg	0	1	1	UPI00000704A0	0	getma.org/pdb.php?prot=ZN346_HUMAN&from=210&to=238&var=K237M	ENST00000358149		ENSG00000113761	16403		93	2.39		HGNC	p.K139M		ZNF346		SNV							ENST00000506693	protein_coding	getma.org/?cm=var&var=hg19,5,176489065,A,T&fts=all		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF7,SMART_domains:SM00451		K/M		T	medium	753/2314		getma.org/?cm=msa&ty=f&p=ZN346_HUMAN&rb=180&re=268&var=K237M	deleterious(0.05)				YES	ZNF346,missense_variant,p.Lys262Met,ENST00000503039,;ZNF346,missense_variant,p.Lys262Met,ENST00000261948,;ZNF346,missense_variant,p.Lys237Met,ENST00000358149,NM_012279.2;ZNF346,missense_variant,p.Lys253Met,ENST00000511834,;ZNF346,missense_variant,p.Lys61Met,ENST00000512315,;ZNF346,missense_variant,p.Lys139Met,ENST00000506693,;ZNF346,missense_variant,p.Lys205Met,ENST00000503425,;ZNF346,missense_variant,p.Arg127Trp,ENST00000513587,;ZNF346,3_prime_UTR_variant,,ENST00000508155,;							MODERATE	710/885	K237M	ZN346_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000350869		CCDS4409.1			1	
MALRD1	0	LGGM	GRCh37	10	19498353	19498353	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	62	34	.	.	ENST00000377266.3:c.662T>C	p.Leu221Pro	p.L221P	ENST00000377266		221	cTc/cCc	0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		96			HGNC	p.L221P		MALRD1		SNV							ENST00000377266	protein_coding			Pfam_domain:PF00629,PROSITE_profiles:PS50060,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65,SMART_domains:SM00137,Superfamily_domains:SSF49899		L/P		C		623/4661			deleterious(0)					MALRD1,missense_variant,p.Leu208Pro,ENST00000454679,;MALRD1,missense_variant,p.Leu221Pro,ENST00000377266,;							MODERATE	623/4422		CJ112_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412763					1	
ZNF681	0	LGGM	GRCh37	19	23927211	23927211	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	68	34	.	.	ENST00000402377.3:c.1141C>T	p.Leu381Phe	p.L381F	ENST00000402377	NM_138286.2	381	Ctt/Ttt	0	1	1	UPI000022ABC8	0	getma.org/pdb.php?prot=ZN681_HUMAN&from=380&to=405&var=L381F	ENST00000402377		ENSG00000196172	26457		102	2.135		HGNC	p.L312F		ZNF681		SNV							ENST00000395385	protein_coding	getma.org/?cm=var&var=hg19,19,23927211,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF279,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/F		A	medium	1283/6497		getma.org/?cm=msa&ty=f&p=ZN681_HUMAN&rb=360&re=425&var=L381F	deleterious(0.02)	E9PSC0_HUMAN,E9PJB6_HUMAN			YES	ZNF681,missense_variant,p.Leu381Phe,ENST00000402377,NM_138286.2;ZNF681,missense_variant,p.Leu312Phe,ENST00000395385,;ZNF681,downstream_gene_variant,,ENST00000528059,;ZNF681,downstream_gene_variant,,ENST00000531570,;							MODERATE	1141/1938	L381F	ZN681_HUMAN			Transcript		possibly_damaging(0.777)	.	ENSP00000384000		CCDS12414.2			1	
DSTYK	0	LGGM	GRCh37	1	205132093	205132093	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	63	34	.	.	ENST00000367162.3:c.1599A>T	p.Ser533=	p.S533=	ENST00000367162	NM_015375.2	533	tcA/tcT	0	1	1	UPI00001D7D39	0		ENST00000367162		ENSG00000133059	29043		97			HGNC	p.S533S		DSTYK		SNV			1				ENST00000367162	protein_coding			hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54		S		A		1630/7874							YES	DSTYK,synonymous_variant,p.=,ENST00000367162,NM_015375.2;DSTYK,synonymous_variant,p.=,ENST00000367161,NM_199462.2;DSTYK,intron_variant,,ENST00000367160,;							LOW	1599/2790		DUSTY_HUMAN			Transcript			.	ENSP00000356130		CCDS1451.1			1	
BACE2	0	LGGM	GRCh37	21	42613876	42613876	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	48	35	.	.	ENST00000330333.6:c.747+2T>A		p.X249_splice	ENST00000330333	NM_012105.4			0	1	1	UPI00000396BC	0		ENST00000330333		ENSG00000182240	934		83			HGNC	-		BACE2		SNV							ENST00000328735	protein_coding							A		-/2993							YES	BACE2,splice_donor_variant,,ENST00000347667,NM_138991.2;BACE2,splice_donor_variant,,ENST00000330333,NM_012105.4;BACE2,splice_donor_variant,,ENST00000328735,NM_138992.2;BACE2,splice_donor_variant,,ENST00000466122,;BACE2,splice_donor_variant,,ENST00000463674,;BACE2,splice_donor_variant,,ENST00000465326,;BACE2,intron_variant,,ENST00000487994,;BACE2,downstream_gene_variant,,ENST00000470864,;BACE2,splice_donor_variant,,ENST00000491838,;							HIGH	747/1557		BACE2_HUMAN			Transcript			.	ENSP00000332979		CCDS13668.1			1	
WWC3	0	LGGM	GRCh37	X	10102618	10102618	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	24	35	.	.	ENST00000380861.4:c.2745A>T	p.Arg915=	p.R915=	ENST00000380861	NM_015691.3	915	cgA/cgT	0	1	1	UPI0000225CDE	0		ENST00000380861		ENSG00000047644	29237		59			HGNC	p.R915R		WWC3		SNV							ENST00000380861	protein_coding			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25		R		T		3136/6647				T2C6S4_HUMAN			YES	WWC3,synonymous_variant,p.=,ENST00000380861,NM_015691.3;WWC3,synonymous_variant,p.=,ENST00000454666,;							LOW	2745/3279		WWC3_HUMAN			Transcript			.	ENSP00000370242		CCDS14136.1			1	
C10orf71	0	LGGM	GRCh37	10	50532318	50532318	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	55	35	.	.	ENST00000374144.3:c.1728T>A	p.Pro576=	p.P576=	ENST00000374144		576	ccT/ccA	0	1	1	UPI0000161572	0		ENST00000374144		ENSG00000177354	26973		90			HGNC	p.P576P		C10orf71		SNV							ENST00000374144	protein_coding					P		A		2016/5230							YES	C10orf71,synonymous_variant,p.=,ENST00000374144,;C10orf71,synonymous_variant,p.=,ENST00000323868,NM_001135196.1;							LOW	1728/4308		CJ071_HUMAN			Transcript			.	ENSP00000363259		CCDS44387.1			1	
CLASP2	0	LGGM	GRCh37	3	33592889	33592889	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	149	36	.	.	ENST00000468888.2:c.3034-2A>T		p.X1012_splice	ENST00000468888				0	1	1	UPI0001B7944B	0		ENST00000468888		ENSG00000163539	17078		185			HGNC	-		CLASP2		SNV							ENST00000399362	protein_coding							A		-/6978				Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN			YES	CLASP2,splice_acceptor_variant,,ENST00000399362,NM_015097.2;CLASP2,splice_acceptor_variant,,ENST00000307312,;CLASP2,splice_acceptor_variant,,ENST00000359576,;CLASP2,splice_acceptor_variant,,ENST00000468888,;CLASP2,splice_acceptor_variant,,ENST00000539981,;CLASP2,splice_acceptor_variant,,ENST00000480013,NM_001207044.1;CLASP2,splice_acceptor_variant,,ENST00000461133,;CLASP2,splice_acceptor_variant,,ENST00000480385,;COX6CP10,upstream_gene_variant,,ENST00000416832,;							HIGH	3034/4545					Transcript			.	ENSP00000419974					1	
SLFN5	0	LGGM	GRCh37	17	33586464	33586464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	80	36	.	.	ENST00000299977.4:c.755G>T	p.Arg252Met	p.R252M	ENST00000299977	NM_144975.3	252	aGg/aTg	0	1	1	UPI0000237686	0	NA	ENST00000299977		ENSG00000166750	28286		116	0.46		HGNC	p.R252M		SLFN5		SNV							ENST00000592325	protein_coding	getma.org/?cm=var&var=hg19,17,33586464,G,T&fts=all		hmmpanther:PTHR12155,hmmpanther:PTHR12155:SF26,Pfam_domain:PF04326		R/M		T	neutral	903/10591		getma.org/?cm=msa&ty=f&p=SLFN5_HUMAN&rb=191&re=322&var=R252M	deleterious(0.02)				YES	SLFN5,missense_variant,p.Arg252Met,ENST00000299977,NM_144975.3;SLFN5,missense_variant,p.Arg252Met,ENST00000542451,;SLFN5,missense_variant,p.Arg252Met,ENST00000592325,;							MODERATE	755/2676	R252M	SLFN5_HUMAN			Transcript		possibly_damaging(0.61)	.	ENSP00000299977		CCDS32619.1			1	
KRTAP10-12	0	LGGM	GRCh37	21	46117474	46117474	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	100	36	.	.	ENST00000400365.3:c.358T>G	p.Cys120Gly	p.C120G	ENST00000400365	NM_198699.1	120	Tgt/Ggt	0	1	1	UPI000021C445	0	NA	ENST00000400365		ENSG00000189169	20533		136	2.82		HGNC	p.C120G		KRTAP10-12		SNV							ENST00000400365	protein_coding	getma.org/?cm=var&var=hg19,21,46117474,T,G&fts=all		Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF8,Low_complexity_(Seg):seg		C/G		G	medium	388/873		getma.org/?cm=msa&ty=f&p=KR10C_HUMAN&rb=119&re=173&var=C120G	deleterious(0)				YES	KRTAP10-12,missense_variant,p.Cys120Gly,ENST00000400365,NM_198699.1;TSPEAR,intron_variant,,ENST00000323084,NM_001272037.1,NM_144991.2;KRTAP10-13P,upstream_gene_variant,,ENST00000412914,;							MODERATE	358/738	C120G	KR10C_HUMAN			Transcript		unknown(0)	.	ENSP00000383216		CCDS42967.1			1	
FGD3	0	LGGM	GRCh37	9	95765223	95765223	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	36	36	.	.	ENST00000375482.3:c.470A>T	p.Lys157Met	p.K157M	ENST00000375482	NM_001083536.1	157	aAg/aTg	0	1		UPI0000199249	0	getma.org/pdb.php?prot=FGD3_HUMAN&from=157&to=341&var=K157M	ENST00000337352		ENSG00000127084	16027		72	3.045		HGNC	p.K157M		FGD3		SNV							ENST00000337352	protein_coding	getma.org/?cm=var&var=hg19,9,95765223,A,T&fts=all		Gene3D:1.20.900.10,PROSITE_profiles:PS50010,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF14,Superfamily_domains:SSF48065		K/M		T	medium	952/3303		getma.org/?cm=msa&ty=f&p=FGD3_HUMAN&rb=157&re=341&var=K157M	deleterious(0)	B4DXH4_HUMAN				FGD3,missense_variant,p.Lys157Met,ENST00000375482,NM_001083536.1;FGD3,missense_variant,p.Lys157Met,ENST00000337352,NM_033086.2;FGD3,missense_variant,p.Lys157Met,ENST00000416701,NM_001286993.1;FGD3,missense_variant,p.Lys157Met,ENST00000467786,;							MODERATE	470/2178	K157M	FGD3_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000336914		CCDS43849.1			1	
HSCB	0	LGGM	GRCh37	22	29139894	29139894	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	53	36	.	.	ENST00000216027.3:c.261A>T	p.Thr87=	p.T87=	ENST00000216027	NM_172002.3	87	acA/acT	0	1	1	UPI000013C6B6	0		ENST00000216027		ENSG00000100209	28913		89			HGNC	p.T87T		HSCB		SNV							ENST00000398941	protein_coding			HAMAP:MF_00682,hmmpanther:PTHR14021,hmmpanther:PTHR14021:SF11,TIGRFAM_domain:TIGR00714,Pfam_domain:PF00226,Gene3D:1.10.287.110,Superfamily_domains:SSF46565		T		T		326/1114							YES	HSCB,synonymous_variant,p.=,ENST00000216027,NM_172002.3;HSCB,synonymous_variant,p.=,ENST00000398941,;CHEK2,upstream_gene_variant,,ENST00000544772,NM_001257387.1;CHEK2,upstream_gene_variant,,ENST00000382580,NM_001005735.1;CHEK2,upstream_gene_variant,,ENST00000405598,;CHEK2,upstream_gene_variant,,ENST00000328354,NM_007194.3;CHEK2,upstream_gene_variant,,ENST00000382566,;CHEK2,upstream_gene_variant,,ENST00000348295,NM_145862.2;CHEK2,upstream_gene_variant,,ENST00000382578,;CHEK2,upstream_gene_variant,,ENST00000439200,;CHEK2,upstream_gene_variant,,ENST00000425190,;CHEK2,upstream_gene_variant,,ENST00000382565,;CHEK2,upstream_gene_variant,,ENST00000398017,;HSCB,non_coding_transcript_exon_variant,,ENST00000495977,;HSCB,non_coding_transcript_exon_variant,,ENST00000485599,;HSCB,non_coding_transcript_exon_variant,,ENST00000483861,;HSCB,synonymous_variant,p.=,ENST00000450178,;HSCB,synonymous_variant,p.=,ENST00000420442,;CHEK2,upstream_gene_variant,,ENST00000416671,;CHEK2,upstream_gene_variant,,ENST00000433028,;							LOW	261/708		HSC20_HUMAN			Transcript			.	ENSP00000216027		CCDS13845.1			1	
FILIP1	0	LGGM	GRCh37	6	76023368	76023368	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	66	36	.	.	ENST00000237172.7:c.2180T>A	p.Leu727His	p.L727H	ENST00000237172	NM_015687.2	727	cTt/cAt	0	1	1	UPI0000160071	0	NA	ENST00000237172		ENSG00000118407	21015		102	2.085		HGNC	p.L727H		FILIP1		SNV							ENST00000393004	protein_coding	getma.org/?cm=var&var=hg19,6,76023368,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF3		L/H		T	medium	2511/4580		getma.org/?cm=msa&ty=f&p=FLIP1_HUMAN&rb=658&re=857&var=L727H	deleterious(0)				YES	FILIP1,missense_variant,p.Leu727His,ENST00000393004,;FILIP1,missense_variant,p.Leu727His,ENST00000237172,NM_015687.2;FILIP1,missense_variant,p.Leu628His,ENST00000370020,;FILIP1,non_coding_transcript_exon_variant,,ENST00000498523,;							MODERATE	2180/3642	L727H	FLIP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000237172		CCDS4984.1			1	
SYNRG	0	LGGM	GRCh37	17	35913779	35913779	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	56	36	.	.	ENST00000339208.6:c.2046A>T	p.Leu682=	p.L682=	ENST00000339208	NM_001163544.1	682	ctA/ctT	0	1	1	UPI000013C4EA	0		ENST00000339208		ENSG00000006114	557		92			HGNC	p.L682L		SYNRG		SNV							ENST00000339208	protein_coding			hmmpanther:PTHR15463		L		A		2187/8229							YES	SYNRG,synonymous_variant,p.=,ENST00000339208,NM_001163544.1,NM_001163545.1,NM_007247.4;SYNRG,synonymous_variant,p.=,ENST00000346661,;SYNRG,synonymous_variant,p.=,ENST00000345615,NM_080550.3,NM_001163546.1;SYNRG,synonymous_variant,p.=,ENST00000502449,;SYNRG,synonymous_variant,p.=,ENST00000394378,NM_198882.1;SYNRG,synonymous_variant,p.=,ENST00000585472,;SYNRG,synonymous_variant,p.=,ENST00000591288,NM_001163547.1;SYNRG,non_coding_transcript_exon_variant,,ENST00000588194,;SYNRG,downstream_gene_variant,,ENST00000587040,;SYNRG,non_coding_transcript_exon_variant,,ENST00000421408,;							LOW	2046/3945		SYNRG_HUMAN			Transcript			.	ENSP00000343610		CCDS11321.1			1	
OR10R2	0	LGGM	GRCh37	1	158449736	158449736	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	94	37	.	.	ENST00000368152.1:c.69A>T	p.Ala23=	p.A23=	ENST00000368152	NM_001004472.1	23	gcA/gcT	0	1	1	UPI000004CA1C	0		ENST00000368152		ENSG00000198965	14820		131			HGNC	p.A23A		OR10R2		SNV							ENST00000368152	protein_coding			Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF42,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		T		69/1008							YES	OR10R2,synonymous_variant,p.=,ENST00000368152,NM_001004472.1;RP11-144L1.4,non_coding_transcript_exon_variant,,ENST00000419738,;RP11-144L1.4,intron_variant,,ENST00000426251,;							LOW	69/1008		O10R2_HUMAN			Transcript			.	ENSP00000357134		CCDS30898.1			1	
RELN	0	LGGM	GRCh37	7	103417021	103417021	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	40	37	.	.	ENST00000428762.1:c.527A>T	p.Gln176Leu	p.Q176L	ENST00000428762	NM_005045.3	176	cAg/cTg	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=26&to=190&var=Q176L	ENST00000428762		ENSG00000189056	9957		77	0.695		HGNC	p.Q176L	rs775701783	RELN	6.06E-05	SNV			1				ENST00000424685	protein_coding	getma.org/?cm=var&var=hg19,7,103417021,T,A&fts=all		PROSITE_profiles:PS51019,hmmpanther:PTHR11841		Q/L		A	neutral	687/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=26&re=190&var=Q176L	deleterious(0)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Gln176Leu,ENST00000424685,;RELN,missense_variant,p.Gln176Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Gln176Leu,ENST00000343529,NM_173054.2;							MODERATE	527/10383	Q176L	RELN_HUMAN			Transcript		benign(0.026)	.	ENSP00000392423	8.24E-06	CCDS47680.1			1	
OR14K1	0	LGGM	GRCh37	1	247902268	247902268	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	71	37	.	.	ENST00000283225.2:c.352T>A	p.Tyr118Asn	p.Y118N	ENST00000283225		118	Tat/Aat	0	1	1	UPI0000041CBA	0		ENST00000283225		ENSG00000153230	15025		108			HGNC	p.Y118N		OR14K1		SNV							ENST00000283225	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF242,hmmpanther:PTHR26452,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		Y/N		A		352/945			deleterious(0)				YES	OR14K1,missense_variant,p.Tyr118Asn,ENST00000283225,;RP11-634B7.4,intron_variant,,ENST00000449298,;							MODERATE	352/945		O14K1_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000283225					1	
ANK3	0	LGGM	GRCh37	10	61829286	61829286	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	66	37	.	.	ENST00000280772.2:c.11353A>T	p.Asn3785Tyr	p.N3785Y	ENST00000280772	NM_020987.3	3785	Aac/Tac	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		103	0.895		HGNC	p.N3785Y		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61829286,T,A&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,Low_complexity_(Seg):seg		N/Y		A	low	11545/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=3615&re=3814&var=N3785Y		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Asn3785Tyr,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,;							MODERATE	11353/13134	N3785Y	ANK3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000280772		CCDS7258.1			1	
MYO1D	0	LGGM	GRCh37	17	31107697	31107697	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	38	38	.	.	ENST00000318217.5:c.201A>C	p.Lys67Asn	p.K67N	ENST00000318217	NM_015194.1	67	aaA/aaC	0	1	1	UPI0000186004	0	getma.org/pdb.php?prot=MYO1D_HUMAN&from=11&to=682&var=K67N	ENST00000318217		ENSG00000176658	7598		76	2.275		HGNC	p.K67N		MYO1D		SNV							ENST00000318217	protein_coding	getma.org/?cm=var&var=hg19,17,31107697,T,G&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540		K/N		G	medium	506/5563		getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=11&re=682&var=K67N	deleterious(0)	Q8N618_HUMAN,K7EIG7_HUMAN			YES	MYO1D,missense_variant,p.Lys67Asn,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Lys67Asn,ENST00000579584,;MYO1D,missense_variant,p.Lys67Asn,ENST00000583621,;MYO1D,5_prime_UTR_variant,,ENST00000394649,;							MODERATE	201/3021	K67N	MYO1D_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000324527		CCDS32615.1			1	
RYR2	0	LGGM	GRCh37	1	237957210	237957210	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	95	38	.	.	ENST00000366574.2:c.13826A>C	p.Lys4609Thr	p.K4609T	ENST00000366574	NM_001035.2	4609	aAa/aCa	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		133	2.365		HGNC	p.K4593T		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237957210,A,C&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		K/T		C	medium	14143/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=4600&re=4705&var=K4609T		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Lys4609Thr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Lys4593Thr,ENST00000542537,;RYR2,missense_variant,p.Lys4615Thr,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;							MODERATE	13826/14904	K4609T	RYR2_HUMAN			Transcript		possibly_damaging(0.685)	.	ENSP00000355533		CCDS55691.1			1	
TMEM214	0	LGGM	GRCh37	2	27260434	27260434	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	57	38	.	.	ENST00000238788.9:c.1016A>T	p.Gln339Leu	p.Q339L	ENST00000238788	NM_017727.4	339	cAg/cTg	0	1	1	UPI00003FF926	0	NA	ENST00000238788		ENSG00000119777	25983		95	2.045		HGNC	p.Q294L		TMEM214		SNV							ENST00000404032	protein_coding	getma.org/?cm=var&var=hg19,2,27260434,A,T&fts=all		hmmpanther:PTHR13448,Pfam_domain:PF10151		Q/L		T	medium	1078/2990		getma.org/?cm=msa&ty=f&p=TM214_HUMAN&rb=217&re=685&var=Q339L	deleterious(0)	B2RD07_HUMAN			YES	TMEM214,missense_variant,p.Gln339Leu,ENST00000238788,NM_017727.4;TMEM214,missense_variant,p.Gln294Leu,ENST00000404032,NM_001083590.1;TMEM214,missense_variant,p.Gln98Leu,ENST00000425720,;TMEM214,upstream_gene_variant,,ENST00000444135,;AGBL5,upstream_gene_variant,,ENST00000421915,;TMEM214,missense_variant,p.Gln339Leu,ENST00000321326,;TMEM214,missense_variant,p.Gln177Leu,ENST00000435172,;TMEM214,non_coding_transcript_exon_variant,,ENST00000475258,;TMEM214,non_coding_transcript_exon_variant,,ENST00000460904,;TMEM214,upstream_gene_variant,,ENST00000460665,;TMEM214,upstream_gene_variant,,ENST00000469445,;TMEM214,upstream_gene_variant,,ENST00000434544,;TMEM214,downstream_gene_variant,,ENST00000495312,;TMEM214,downstream_gene_variant,,ENST00000478980,;							MODERATE	1016/2070	Q339L	TM214_HUMAN			Transcript		benign(0.149)	.	ENSP00000238788		CCDS42664.1			1	
KSR2	0	LGGM	GRCh37	12	118112128	118112128	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	67	39	.	.	ENST00000339824.5:c.987-6665A>T		*329*	ENST00000339824				0	1	1	UPI000152636C	0		ENST00000339824		ENSG00000171435	18610		106			HGNC	p.S13C		KSR2		SNV							ENST00000302438	protein_coding							A		-/4429				E9PB13_HUMAN			YES	KSR2,missense_variant,p.Ser13Cys,ENST00000302438,;KSR2,intron_variant,,ENST00000425217,NM_173598.4;KSR2,intron_variant,,ENST00000339824,;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;							MODIFIER	-/2853		KSR2_HUMAN			Transcript			.	ENSP00000339952					1	
SCN11A	0	LGGM	GRCh37	3	38949589	38949589	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	49	41	.	.	ENST00000302328.3:c.1324A>T	p.Arg442Ter	p.R442*	ENST00000302328	NM_014139.2	442	Aga/Tga	0	1	1	UPI000006CCD7	0	NA	ENST00000302328		ENSG00000168356	10583		90	0		HGNC	p.R442X		SCN11A		SNV			1				ENST00000444237	protein_coding	getma.org/?cm=var&var=hg19,3,38949589,T,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22		R/*		A	NA	1523/6500		NA					YES	SCN11A,stop_gained,p.Arg442Ter,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,stop_gained,p.Arg442Ter,ENST00000450244,NM_001287223.1;SCN11A,stop_gained,p.Arg442Ter,ENST00000444237,;SCN11A,stop_gained,p.Arg442Ter,ENST00000456224,;AC116038.1,downstream_gene_variant,,ENST00000401122,;							HIGH	1324/5376	R442*	SCNBA_HUMAN			Transcript			.	ENSP00000307599		CCDS33737.1			1	
ZBBX	0	LGGM	GRCh37	3	167045878	167045878	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	65	42	.	.	ENST00000455345.2:c.714A>T	p.Ala238=	p.A238=	ENST00000455345		238	gcA/gcT	0	1		UPI000020A743	0		ENST00000392766		ENSG00000169064	26245		107			HGNC	p.A238A		ZBBX		SNV							ENST00000392766	protein_coding					A		A		1055/3250				F2Z370_HUMAN,C9JVV2_HUMAN				ZBBX,synonymous_variant,p.=,ENST00000392766,NM_001199201.1,NM_024687.3;ZBBX,synonymous_variant,p.=,ENST00000455345,;ZBBX,synonymous_variant,p.=,ENST00000307529,;ZBBX,synonymous_variant,p.=,ENST00000392767,;ZBBX,synonymous_variant,p.=,ENST00000392764,NM_001199202.1;ZBBX,intron_variant,,ENST00000469220,;							LOW	714/2403		ZBBX_HUMAN			Transcript			.	ENSP00000376519		CCDS3199.2			1	
TM6SF1	0	LGGM	GRCh37	15	83793472	83793472	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	64	45	.	.	ENST00000322019.9:c.652T>A	p.Leu218Ile	p.L218I	ENST00000322019		218	Tta/Ata	0	1	1	UPI0000039EA7	0	NA	ENST00000322019		ENSG00000136404	11860		109	1.61		HGNC	p.L221I		TM6SF1		SNV							ENST00000379386	protein_coding	getma.org/?cm=var&var=hg19,15,83793472,T,A&fts=all		Pfam_domain:PF10914,hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF10,Transmembrane_helices:TMhelix		L/I		A	low	926/2074		getma.org/?cm=msa&ty=f&p=TM6S1_HUMAN&rb=217&re=358&var=L218I	tolerated(0.07)	H3BM84_HUMAN,E9PD04_HUMAN			YES	TM6SF1,missense_variant,p.Leu218Ile,ENST00000322019,;TM6SF1,missense_variant,p.Leu221Ile,ENST00000379386,NM_023003.3,NM_001144903.1;TM6SF1,missense_variant,p.Leu218Ile,ENST00000565774,;TM6SF1,missense_variant,p.Leu127Ile,ENST00000565982,;TM6SF1,intron_variant,,ENST00000379390,;HDGFRP3,intron_variant,,ENST00000568294,;TM6SF1,upstream_gene_variant,,ENST00000561551,;TM6SF1,downstream_gene_variant,,ENST00000564988,;TM6SF1,3_prime_UTR_variant,,ENST00000379384,;TM6SF1,intron_variant,,ENST00000258909,;							MODERATE	652/1113	L218I	TM6S1_HUMAN			Transcript		benign(0.249)	.	ENSP00000317000		CCDS10323.1			1	
MED12L	0	LGGM	GRCh37	3	151101981	151101981	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	45	45	.	.	ENST00000474524.1:c.4796A>T	p.Tyr1599Phe	p.Y1599F	ENST00000474524	NM_053002.4	1599	tAc/tTc	0	1	1	UPI000020A46B	0	NA	ENST00000474524		ENSG00000144893	16050		90	2.125		HGNC	p.Y1599F		MED12L		SNV							ENST00000474524	protein_coding	getma.org/?cm=var&var=hg19,3,151101981,A,T&fts=all		hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5		Y/F		T	medium	4834/10744		getma.org/?cm=msa&ty=f&p=MD12L_HUMAN&rb=1531&re=1730&var=Y1599F	deleterious(0)				YES	MED12L,missense_variant,p.Tyr1599Phe,ENST00000474524,NM_053002.4;MED12L,missense_variant,p.Tyr1459Phe,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_022788.4,NM_176876.2;							MODERATE	4796/6438	Y1599F	MD12L_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000417235		CCDS33876.1			1	
PTPRB	0	LGGM	GRCh37	12	70960402	70960402	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	107	46	.	.	ENST00000334414.6:c.3717T>A	p.Gly1239=	p.G1239=	ENST00000334414	NM_001109754.2	1239	ggT/ggA	0	1		UPI00001FC788	0		ENST00000261266		ENSG00000127329	9665		153			HGNC	p.G1118G		PTPRB		SNV							ENST00000548122	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00060,Superfamily_domains:SSF49265		G		T		3093/6110								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.=,ENST00000551525,;PTPRB,synonymous_variant,p.=,ENST00000548122,;PTPRB,intron_variant,,ENST00000538708,NM_001206972.1;							LOW	3063/5994		PTPRB_HUMAN			Transcript			.	ENSP00000261266		CCDS44944.1			1	
PRAMEF12	0	LGGM	GRCh37	1	12837410	12837410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	112	47	.	.	ENST00000357726.4:c.1120C>A	p.Arg374Ser	p.R374S	ENST00000357726	NM_001080830.1	374	Cgc/Agc	0	1	1	UPI000013A190	0	NA	ENST00000357726		ENSG00000116726	22125		159	2.22		HGNC	p.R374S		PRAMEF12		SNV							ENST00000357726	protein_coding	getma.org/?cm=var&var=hg19,1,12837410,C,A&fts=all		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047		R/S		A	medium	1147/1786		getma.org/?cm=msa&ty=f&p=PRA12_HUMAN&rb=201&re=400&var=R374S	tolerated(0.08)				YES	PRAMEF12,missense_variant,p.Arg374Ser,ENST00000357726,NM_001080830.1;							MODERATE	1120/1452	R374S	PRA12_HUMAN			Transcript		benign(0.099)	.	ENSP00000350358		CCDS41254.1			1	
DSP	0	LGGM	GRCh37	6	7575607	7575607	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	90	47	.	.	ENST00000379802.3:c.2516A>T	p.His839Leu	p.H839L	ENST00000379802	NM_004415.2	839	cAc/cTc	0	1	1	UPI000013C67F	0	NA	ENST00000379802		ENSG00000096696	3052		137	0.69		HGNC	p.H839L		DSP		SNV			1				ENST00000379802	protein_coding	getma.org/?cm=var&var=hg19,6,7575607,A,T&fts=all		Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		H/L		T	neutral	2857/9796		getma.org/?cm=msa&ty=f&p=DESP_HUMAN&rb=801&re=1000&var=H839L		G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,missense_variant,p.His839Leu,ENST00000379802,NM_004415.2;DSP,missense_variant,p.His839Leu,ENST00000418664,NM_001008844.1;							MODERATE	2516/8616	H839L	DESP_HUMAN			Transcript		benign(0.075)	.	ENSP00000369129		CCDS4501.1			1	
OR5T1	0	LGGM	GRCh37	11	56043194	56043194	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	109	47	.	.	ENST00000313033.2:c.80T>A	p.Ile27Lys	p.I27K	ENST00000313033	NM_001004745.1	27	aTa/aAa	0	1	1	UPI000004B22E	0	NA	ENST00000313033		ENSG00000181698	14821		156	0.145		HGNC	p.I27K		OR5T1		SNV							ENST00000313033	protein_coding	getma.org/?cm=var&var=hg19,11,56043194,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF33,Superfamily_domains:SSF81321		I/K		A	neutral	166/1118		getma.org/?cm=msa&ty=f&p=OR5T1_HUMAN&rb=1&re=150&var=I27K	tolerated(0.44)				YES	OR5T1,missense_variant,p.Ile27Lys,ENST00000313033,NM_001004745.1;							MODERATE	80/981	I27K	OR5T1_HUMAN			Transcript		benign(0)	.	ENSP00000323612		CCDS31525.1			1	
FSIP2	0	LGGM	GRCh37	2	186658373	186658373	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	58	47	.	.	ENST00000343098.5:c.6777T>A	p.Ala2259=	p.A2259=	ENST00000343098	NM_173651.2	2259	gcT/gcA	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		105			HGNC	p.A2170A		FSIP2		SNV							ENST00000424728	protein_coding			hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		A		A		6510/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;AC008174.3,intron_variant,,ENST00000436557,;AC008174.3,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;							LOW	6510/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306					1	
DSP	0	LGGM	GRCh37	6	7575605	7575605	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	91	47	.	.	ENST00000379802.3:c.2514C>T	p.Ile838=	p.I838=	ENST00000379802	NM_004415.2	838	atC/atT	0	1	1	UPI000013C67F	0		ENST00000379802		ENSG00000096696	3052		138			HGNC	p.I838I		DSP		SNV			1				ENST00000379802	protein_coding			Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		I		T		2855/9796				G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,synonymous_variant,p.=,ENST00000418664,NM_001008844.1;							LOW	2514/8616		DESP_HUMAN			Transcript			.	ENSP00000369129		CCDS4501.1			1	
LBR	0	LGGM	GRCh37	1	225599051	225599051	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	70	49	.	.	ENST00000338179.2:c.1176A>G	p.Gly392=	p.G392=	ENST00000338179	NM_194442.2	392	ggA/ggG	0	1		UPI000012E256	0		ENST00000272163		ENSG00000143815	6518		119			HGNC	p.G392G		LBR		SNV			1				ENST00000272163	protein_coding			Pfam_domain:PF01222,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32		G		C		1272/3745				C9JXK0_HUMAN,C9JES9_HUMAN				LBR,synonymous_variant,p.=,ENST00000338179,NM_194442.2;LBR,synonymous_variant,p.=,ENST00000272163,NM_002296.3;LBR,synonymous_variant,p.=,ENST00000424022,;AC092811.1,upstream_gene_variant,,ENST00000366845,;							LOW	1176/1848		LBR_HUMAN			Transcript			.	ENSP00000272163		CCDS1545.1			1	
DPP6	0	LGGM	GRCh37	7	154519480	154519480	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	75	50	.	.	ENST00000377770.3:c.766T>C	p.Phe256Leu	p.F256L	ENST00000377770		256	Ttt/Ctt	0	1	1	UPI00001AE746	0	getma.org/pdb.php?prot=DPP6_HUMAN&from=195&to=561&var=F256L	ENST00000377770		ENSG00000130226	3010		125	2.525		HGNC	p.F149L		DPP6		SNV			1				ENST00000427557	protein_coding	getma.org/?cm=var&var=hg19,7,154519480,T,C&fts=all		Superfamily_domains:SSF82171,Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20		F/L		C	medium	907/3710		getma.org/?cm=msa&ty=f&p=DPP6_HUMAN&rb=195&re=561&var=F256L	deleterious(0)	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,missense_variant,p.Phe192Leu,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,missense_variant,p.Phe194Leu,ENST00000332007,;DPP6,missense_variant,p.Phe256Leu,ENST00000377770,;DPP6,missense_variant,p.Phe149Leu,ENST00000427557,;							MODERATE	766/2598	F256L	DPP6_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000367001					1	
ZNF300	0	LGGM	GRCh37	5	150278044	150278044	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	97	50	.	.	ENST00000446148.2:c.136A>T	p.Arg46Trp	p.R46W	ENST00000446148	NM_001172831.1	46	Agg/Tgg	0	1		UPI000013C350	0	getma.org/pdb.php?prot=ZN300_HUMAN&from=8&to=48&var=R30W	ENST00000274599		ENSG00000145908	13091		147	3.17		HGNC	p.R46W		ZNF300		SNV							ENST00000446148	protein_coding	getma.org/?cm=var&var=hg19,5,150278044,T,A&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF288,SMART_domains:SM00349		R/W		A	medium	509/3268		getma.org/?cm=msa&ty=f&p=ZN300_HUMAN&rb=8&re=48&var=R30W	deleterious(0)					ZNF300,missense_variant,p.Arg30Trp,ENST00000427179,;ZNF300,missense_variant,p.Arg46Trp,ENST00000446148,NM_001172831.1;ZNF300,missense_variant,p.Arg30Trp,ENST00000274599,NM_052860.2;ZNF300,missense_variant,p.Arg30Trp,ENST00000394226,;ZNF300,5_prime_UTR_variant,,ENST00000418587,NM_001172832.1;IRGM,intron_variant,,ENST00000520549,;							MODERATE	88/1815	R30W	ZN300_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000274599		CCDS4311.2			1	
PCDH11X	0	LGGM	GRCh37	X	91873503	91873503	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	49	51	.	.	ENST00000373094.1:c.3608A>T	p.Gln1203Leu	p.Q1203L	ENST00000373094	NM_032968.3	1203	cAg/cTg	0	1	1	UPI0000070BD8	0	NA	ENST00000373094		ENSG00000102290	8656		100	0.895		HGNC	p.Q1166L		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91873503,A,T&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15		Q/L		T	low	4453/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=1202&re=1260&var=Q1203L	deleterious_low_confidence(0.01)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Gln1203Leu,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Gln1193Leu,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Gln1166Leu,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Gln1195Leu,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Gln1185Leu,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Gln1166Leu,ENST00000298274,;PCDH11X,3_prime_UTR_variant,,ENST00000504220,NM_001168361.1;							MODERATE	3608/4044	Q1203L	PC11X_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000362186		CCDS14461.1			1	
TRIM48	0	LGGM	GRCh37	11	55032739	55032739	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090866	H090866N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	101	51	.	.	ENST00000417545.2:c.408G>T	p.Glu136Asp	p.E136D	ENST00000417545	NM_024114.3	136	gaG/gaT	0	1	1	UPI0000374413	0	getma.org/pdb.php?prot=TRI48_HUMAN&from=88&to=129&var=E120D	ENST00000417545		ENSG00000150244	19021		152	2.39		HGNC	p.E136D		TRIM48		SNV							ENST00000417545	protein_coding	getma.org/?cm=var&var=hg19,11,55032739,G,T&fts=all		Gene3D:1freA00,Pfam_domain:PF00643,PROSITE_profiles:PS50119,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF310,SMART_domains:SM00336,Superfamily_domains:SSF57845		E/D		T	medium	494/1445		getma.org/?cm=msa&ty=f&p=TRI48_HUMAN&rb=88&re=129&var=E120D	deleterious(0.01)				YES	TRIM48,missense_variant,p.Glu136Asp,ENST00000417545,NM_024114.3;RP11-72M10.2,upstream_gene_variant,,ENST00000526762,;							MODERATE	408/675	E120D	TRI48_HUMAN			Transcript		possibly_damaging(0.596)	.	ENSP00000402414		CCDS7947.2			1	
SCN9A	0	LGGM	GRCh37	2	167055459	167055459	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	85	53	.	.	ENST00000409672.1:c.5657A>T	p.Gln1886Leu	p.Q1886L	ENST00000409672	NM_002977.3	1886	cAg/cTg	0	1		UPI00015E0A2B	0	NA	ENST00000303354		ENSG00000169432	10597		138	3.21		HGNC	p.Q1897L		SCN9A		SNV			1				ENST00000409435	protein_coding	getma.org/?cm=var&var=hg19,2,167055459,T,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF28,SMART_domains:SM00015		Q/L		A	medium	6034/9787		getma.org/?cm=msa&ty=f&p=SCN9A_HUMAN&rb=1889&re=1918&var=Q1897L	deleterious(0)	E9PBA5_HUMAN				SCN9A,missense_variant,p.Gln1898Leu,ENST00000303354,;SCN9A,missense_variant,p.Gln1898Leu,ENST00000375387,;SCN9A,missense_variant,p.Gln1886Leu,ENST00000409672,NM_002977.3;SCN9A,missense_variant,p.Gln1897Leu,ENST00000409435,;AC010127.3,intron_variant,,ENST00000447809,;							MODERATE	5693/5970	Q1897L				Transcript		probably_damaging(0.983)	.	ENSP00000304748					1	
LNX2	0	LGGM	GRCh37	13	28143242	28143242	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	81	54	.	.	ENST00000316334.3:c.579A>T	p.Thr193=	p.T193=	ENST00000316334	NM_153371.3	193	acA/acT	0	1	1	UPI000012E7A7	0		ENST00000316334		ENSG00000139517	20421		135			HGNC	p.T193T		LNX2		SNV							ENST00000316334	protein_coding			hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF33		T		A		709/4625							YES	LNX2,synonymous_variant,p.=,ENST00000316334,NM_153371.3;							LOW	579/2073		LNX2_HUMAN			Transcript			.	ENSP00000325929		CCDS9323.1			1	
HACE1	0	LGGM	GRCh37	6	105298787	105298787	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	137	55	.	.	ENST00000262903.4:c.216A>T	p.Ala72=	p.A72=	ENST00000262903	NM_020771.3	72	gcA/gcT	0	1	1	UPI00001602DC	0		ENST00000262903		ENSG00000085382	21033		192			HGNC	p.A72A		HACE1		SNV			1				ENST00000262903	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR11254:SF278,hmmpanther:PTHR11254,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		A		A		493/4576				E5RFX0_HUMAN,E3W983_HUMAN			YES	HACE1,synonymous_variant,p.=,ENST00000262903,NM_020771.3;HACE1,synonymous_variant,p.=,ENST00000369125,;HACE1,synonymous_variant,p.=,ENST00000519645,;HACE1,synonymous_variant,p.=,ENST00000524020,;HACE1,synonymous_variant,p.=,ENST00000416605,;HACE1,3_prime_UTR_variant,,ENST00000521962,;							LOW	216/2730		HACE1_HUMAN			Transcript			.	ENSP00000262903		CCDS5050.1			1	
GRIA2	0	LGGM	GRCh37	4	158284166	158284166	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	38	57	.	.	ENST00000296526.7:c.2622C>T	p.Asn874=	p.N874=	ENST00000296526	NM_000826.3	874	aaC/aaT	0	1		UPI000012B7C2	0		ENST00000264426		ENSG00000120251	4572		95			HGNC	p.N874N	rs747357354,COSM733313,COSM733314	GRIA2	6.24E-05	SNV						0,1,1	ENST00000296526	protein_coding					N		T		2901/3445				D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				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,;					0,1,1		LOW	2622/2652		GRIA2_HUMAN			Transcript			.	ENSP00000264426	8.24E-06	CCDS43274.1			1	
CCNYL2	0	LGGM	GRCh37	10	42928750	42928750	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	94	61	.	.	ENST00000483242.3:n.751T>A		*251*	ENST00000483242				0	1	1		0		ENST00000483242		ENSG00000182632	23495		155			HGNC	p.L128H		CCNYL2		SNV							ENST00000426433	processed_transcript							T		751/3311							YES	CCNYL2,non_coding_transcript_exon_variant,,ENST00000483242,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000472090,;CCNYL2,non_coding_transcript_exon_variant,,ENST00000426433,;							MODIFIER						Transcript			.						1	
SLC12A5	0	LGGM	GRCh37	20	44671945	44671945	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	125	63	.	.	ENST00000454036.2:c.1289A>T	p.Tyr430Phe	p.Y430F	ENST00000454036	NM_001134771.1	430	tAc/tTc	0	1	1	UPI00015F4605	0	getma.org/pdb.php?prot=S12A5_HUMAN&from=412&to=699&var=Y430F	ENST00000454036		ENSG00000124140	13818		188	-1.11		HGNC	p.Y430F		SLC12A5		SNV							ENST00000454036	protein_coding	getma.org/?cm=var&var=hg19,20,44671945,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930		Y/F		T	neutral	1338/3566		getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=412&re=699&var=Y430F	tolerated(0.92)	B7Z3I0_HUMAN			YES	SLC12A5,missense_variant,p.Tyr407Phe,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Tyr430Phe,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,non_coding_transcript_exon_variant,,ENST00000608594,;SLC12A5,intron_variant,,ENST00000539566,;							MODERATE	1289/3420	Y430F	S12A5_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000387694		CCDS46610.1			1	
C8orf22	0	LGGM	GRCh37	8	49986650	49986650	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	55	64	.	.	ENST00000303202.8:c.88A>T	p.Ser30Cys	p.S30C	ENST00000303202	NM_001256598.1	30	Agc/Tgc	0	1	1	UPI0000070316	0		ENST00000303202		ENSG00000168333	31745		119			HGNC	p.S30C		C8orf22		SNV							ENST00000517663	protein_coding			Pfam_domain:PF15060,hmmpanther:PTHR14572,hmmpanther:PTHR14572:SF1,Low_complexity_(Seg):seg		S/C		T		261/1499			tolerated(0.42)				YES	C8orf22,missense_variant,p.Ser30Cys,ENST00000303202,NM_001256598.1;C8orf22,missense_variant,p.Ser30Cys,ENST00000399653,NM_001007176.4,NM_001256597.1;C8orf22,missense_variant,p.Ser30Cys,ENST00000517663,NM_001256596.1;C8orf22,missense_variant,p.Ser30Cys,ENST00000522267,;							MODERATE	88/255		PDPFL_HUMAN			Transcript		possibly_damaging(0.639)	.	ENSP00000304926		CCDS59101.1			1	
TBX21	0	LGGM	GRCh37	17	45822246	45822246	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	52	69	.	.	ENST00000177694.1:c.1122T>A	p.Pro374=	p.P374=	ENST00000177694	NM_013351.1	374	ccT/ccA	0	1	1	UPI0000001C88	0		ENST00000177694		ENSG00000073861	11599		121			HGNC	p.P374P		TBX21		SNV			1				ENST00000177694	protein_coding			hmmpanther:PTHR11267:SF95,hmmpanther:PTHR11267		P		A		1333/2572							YES	TBX21,synonymous_variant,p.=,ENST00000177694,NM_013351.1;TBX21,downstream_gene_variant,,ENST00000581328,;							LOW	1122/1608		TBX21_HUMAN			Transcript			.	ENSP00000177694		CCDS11514.1			1	
RBBP8	0	LGGM	GRCh37	18	20602100	20602100	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	139	69	.	.	ENST00000399722.2:c.2463A>T	p.Ala821=	p.A821=	ENST00000399722	NM_203291.1	821	gcA/gcT	0	1		UPI000013D1A9	0		ENST00000327155		ENSG00000101773	9891		208			HGNC	p.Q246L		RBBP8		SNV			1				ENST00000583057	protein_coding			hmmpanther:PTHR15107:SF2,hmmpanther:PTHR15107,Pfam_domain:PF08573		A		T		2811/3288				J3QRM0_HUMAN,J3QLW6_HUMAN,J3QLH2_HUMAN,J3QL93_HUMAN,J3KSA4_HUMAN,F6Q6H0_HUMAN				RBBP8,missense_variant,p.Gln789Leu,ENST00000399725,NM_203292.1;RBBP8,missense_variant,p.Gln246Leu,ENST00000583057,;RBBP8,synonymous_variant,p.=,ENST00000399722,NM_203291.1;RBBP8,synonymous_variant,p.=,ENST00000327155,NM_002894.2;RBBP8,synonymous_variant,p.=,ENST00000360790,;RBBP8,5_prime_UTR_variant,,ENST00000581687,;Y_RNA,upstream_gene_variant,,ENST00000411091,;							LOW	2463/2694		COM1_HUMAN			Transcript			.	ENSP00000323050		CCDS11875.1			1	
SMC3	0	LGGM	GRCh37	10	112360830	112360830	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	143	71	.	.	ENST00000361804.4:c.2586A>T	p.Thr862=	p.T862=	ENST00000361804	NM_005445.3	862	acA/acT	0	1	1	UPI0000135A8D	0		ENST00000361804		ENSG00000108055	2468		214			HGNC	p.T862T		SMC3		SNV			1				ENST00000361804	protein_coding			Pfam_domain:PF02463,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF164		T		T		2712/4114							YES	SMC3,synonymous_variant,p.=,ENST00000361804,NM_005445.3;							LOW	2586/3654		SMC3_HUMAN			Transcript			.	ENSP00000354720		CCDS31285.1			1	
EFHB	0	LGGM	GRCh37	3	19975098	19975098	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	60	72	.	.	ENST00000295824.9:c.413A>T	p.Gln138Leu	p.Q138L	ENST00000295824	NM_144715.3	138	cAg/cTg	0	1	1	UPI0000209A4C	0	NA	ENST00000295824		ENSG00000163576	26330		132	1.245		HGNC	p.Q138L		EFHB		SNV							ENST00000389256	protein_coding	getma.org/?cm=var&var=hg19,3,19975098,T,A&fts=all		hmmpanther:PTHR12086:SF10,hmmpanther:PTHR12086		Q/L		A	low	575/2823		getma.org/?cm=msa&ty=f&p=EFHB_HUMAN&rb=1&re=200&var=Q138L	deleterious_low_confidence(0.03)				YES	EFHB,missense_variant,p.Gln138Leu,ENST00000295824,NM_144715.3;EFHB,missense_variant,p.Gln138Leu,ENST00000389256,;EFHB,intron_variant,,ENST00000344838,;EFHB,upstream_gene_variant,,ENST00000440022,;EFHB,non_coding_transcript_exon_variant,,ENST00000498089,;							MODERATE	413/2502	Q138L	EFHB_HUMAN			Transcript		benign(0.022)	.	ENSP00000295824		CCDS33715.2			1	
MUC17	0	LGGM	GRCh37	7	100678985	100678985	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	140	74	.	.	ENST00000306151.4:c.4288T>A	p.Ser1430Thr	p.S1430T	ENST00000306151	NM_001040105.1	1430	Tct/Act	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		214	0.895		HGNC	p.S1430T		MUC17		SNV							ENST00000306151	protein_coding	getma.org/?cm=var&var=hg19,7,100678985,T,A&fts=all		Low_complexity_(Seg):seg		S/T		A	low	4352/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=S1430T		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Ser1430Thr,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser1430Thr,ENST00000379439,;							MODERATE	4288/13482	S1430T	MUC17_HUMAN			Transcript		unknown(0)	.	ENSP00000302716		CCDS34711.1			1	
TOPBP1	0	LGGM	GRCh37	3	133329975	133329975	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	96	74	.	.	ENST00000260810.5:c.4046A>T	p.Tyr1349Phe	p.Y1349F	ENST00000260810	NM_007027.3	1349	tAt/tTt	0	1	1	UPI000020A292	0	getma.org/pdb.php?prot=TOPB1_HUMAN&from=1259&to=1351&var=Y1349F	ENST00000260810		ENSG00000163781	17008		170	1.36		HGNC	p.Y1349F		TOPBP1		SNV							ENST00000260810	protein_coding	getma.org/?cm=var&var=hg19,3,133329975,T,A&fts=all		PROSITE_profiles:PS50172,hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561,Gene3D:3.40.50.10190,Superfamily_domains:SSF52113		Y/F		A	low	4178/5378		getma.org/?cm=msa&ty=f&p=TOPB1_HUMAN&rb=1259&re=1351&var=Y1349F	tolerated(0.06)	A0AV47_HUMAN			YES	TOPBP1,missense_variant,p.Tyr1349Phe,ENST00000260810,NM_007027.3;TOPBP1,upstream_gene_variant,,ENST00000503338,;TOPBP1,upstream_gene_variant,,ENST00000503464,;							MODERATE	4046/4569	Y1349F	TOPB1_HUMAN			Transcript		possibly_damaging(0.583)	.	ENSP00000260810		CCDS46919.1			1	
C9orf131	0	LGGM	GRCh37	9	35043597	35043597	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	63	74	.	.	ENST00000312292.5:c.971T>A	p.Leu324Ter	p.L324*	ENST00000312292	NM_203299.2	324	tTg/tAg	0	1	1	UPI00001605AC	0	NA	ENST00000312292		ENSG00000174038	31418		137	0		HGNC	p.L251X		C9orf131		SNV							ENST00000354479	protein_coding	getma.org/?cm=var&var=hg19,9,35043597,T,A&fts=all		hmmpanther:PTHR21777		L/*		A	NA	1018/3409		NA					YES	C9orf131,stop_gained,p.Leu324Ter,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,stop_gained,p.Leu276Ter,ENST00000421362,NM_001040412.1;C9orf131,stop_gained,p.Leu251Ter,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,;							HIGH	971/3240	L324*	CI131_HUMAN			Transcript			.	ENSP00000308279		CCDS6572.2			1	
NBPF10	0	LGGM	GRCh37	1	145368488	145368488	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	390	75	.	.	ENST00000342960.5:c.10466A>G	p.Asp3489Gly	p.D3489G	ENST00000342960	NM_001039703.5	3489	gAc/gGc	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		465	2.61		HGNC	p.D609G	rs782204848	NBPF10		SNV							ENST00000369339	protein_coding	getma.org/?cm=var&var=hg19,1,145368488,A,G&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316		D/G		G	medium	10501/10697	1.50E-05	getma.org/?cm=msa&ty=f&p=A6NDV3_HUMAN&rb=3394&re=3553&var=D3489G		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Asp3489Gly,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Asp607Gly,ENST00000369339,;NBPF10,missense_variant,p.Asp605Gly,ENST00000369338,;NBPF10,missense_variant,p.Asp863Gly,ENST00000605176,;NBPF10,downstream_gene_variant,,ENST00000448873,;RP11-458D21.1,downstream_gene_variant,,ENST00000433081,;RP11-458D21.1,downstream_gene_variant,,ENST00000457465,;RP11-458D21.1,downstream_gene_variant,,ENST00000421937,;NBPF10,downstream_gene_variant,,ENST00000490598,;							MODERATE	10466/10662	D3489G				Transcript		possibly_damaging(0.827)	.	ENSP00000345684	8.24E-06				1	
MUC17	0	LGGM	GRCh37	7	100685172	100685172	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090866	H090866N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	134	78	.	.	ENST00000306151.4:c.10475C>G	p.Ser3492Cys	p.S3492C	ENST00000306151	NM_001040105.1	3492	tCt/tGt	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		212	0.55		HGNC	p.S3492C		MUC17		SNV							ENST00000306151	protein_coding	getma.org/?cm=var&var=hg19,7,100685172,C,G&fts=all		Low_complexity_(Seg):seg		S/C		G	neutral	10539/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=S3492C		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Ser3492Cys,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Ser3492Cys,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;							MODERATE	10475/13482	S3492C	MUC17_HUMAN			Transcript		benign(0.242)	.	ENSP00000302716		CCDS34711.1			1	
SLC25A13	0	LGGM	GRCh37	7	95775973	95775973	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	130	81	.	.	ENST00000416240.2:c.1350A>T	p.Leu450Phe	p.L450F	ENST00000416240	NM_014251.2	450	ttA/ttT	0	1		UPI0000127BC3	0	NA	ENST00000265631		ENSG00000004864	10983		211	2.125		HGNC	p.L449F		SLC25A13		SNV			1				ENST00000265631	protein_coding	getma.org/?cm=var&var=hg19,7,95775973,T,A&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,Prints_domain:PR00926,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265		L/F		A	medium	1484/3136		getma.org/?cm=msa&ty=f&p=CMC2_HUMAN&rb=424&re=515&var=L449F	deleterious(0)	Q75KX8_HUMAN				SLC25A13,missense_variant,p.Leu450Phe,ENST00000416240,NM_014251.2,NM_001160210.1;SLC25A13,missense_variant,p.Leu449Phe,ENST00000265631,;SLC25A13,missense_variant,p.Leu341Phe,ENST00000542654,;SLC25A13,non_coding_transcript_exon_variant,,ENST00000490072,;							MODERATE	1347/2028	L449F	CMC2_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000265631		CCDS5645.1			1	
RANBP2	0	LGGM	GRCh37	2	109383761	109383761	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090866	H090866N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	279	99	.	.	ENST00000283195.6:c.6766A>T	p.Asn2256Tyr	p.N2256Y	ENST00000283195	NM_006267.4	2256	Aat/Tat	0	1	1	UPI0000207FB9	0	NA	ENST00000283195		ENSG00000153201	9848		378	1.04		HGNC	p.N1280Y		RANBP2		SNV			1				ENST00000409491	protein_coding	getma.org/?cm=var&var=hg19,2,109383761,A,T&fts=all		hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF8		N/Y		T	low	6892/11711		getma.org/?cm=msa&ty=f&p=RBP2_HUMAN&rb=2146&re=2320&var=N2256Y	deleterious(0)	I1Z9D1_HUMAN			YES	RANBP2,missense_variant,p.Asn2256Tyr,ENST00000283195,NM_006267.4;							MODERATE	6766/9675	N2256Y	RBP2_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000283195		CCDS2079.1			1	
ACAN	0	LGGM	GRCh37	15	89400207	89400207	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	223	125	.	.	ENST00000439576.2:c.4391T>A	p.Val1464Glu	p.V1464E	ENST00000439576	NM_013227.3	1464	gTa/gAa	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		348	-0.55		HGNC	p.V1464E		ACAN		SNV			1				ENST00000561243	protein_coding	getma.org/?cm=var&var=hg19,15,89400207,T,A&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		V/E		A	neutral	4765/8840		getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=1274&re=1473&var=F1427E	tolerated(0.28)	Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,missense_variant,p.Val1464Glu,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Val1464Glu,ENST00000559004,;ACAN,missense_variant,p.Val1464Glu,ENST00000561243,;ACAN,missense_variant,p.Val1464Glu,ENST00000352105,NM_001135.3;ACAN,upstream_gene_variant,,ENST00000560601,;							MODERATE	4391/7593	F1427E				Transcript		benign(0.109)	.	ENSP00000387356		CCDS53970.1			1	
ENPP2	0	LGGM	GRCh37	8	120606055	120606055	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090866	H090866N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090866N.bam, H090866T.bam	Illumina HiSeq	175	134	.	.	ENST00000259486.6:c.1174A>T	p.Met392Leu	p.M392L	ENST00000259486	NM_006209.4	392	Atg/Ttg	0	1		UPI000013D05C	0	getma.org/pdb.php?prot=ENPP2_HUMAN&from=278&to=478&var=M340L	ENST00000075322		ENSG00000136960	3357		309	1.175		HGNC	p.M340L		ENPP2		SNV							ENST00000522826	protein_coding	getma.org/?cm=var&var=hg19,8,120606055,T,A&fts=all		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF21,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649		M/L		A	low	1077/2651		getma.org/?cm=msa&ty=f&p=ENPP2_HUMAN&rb=278&re=478&var=M340L	deleterious(0.01)					ENPP2,missense_variant,p.Met336Leu,ENST00000427067,;ENPP2,missense_variant,p.Met392Leu,ENST00000259486,NM_006209.4;ENPP2,missense_variant,p.Met340Leu,ENST00000522826,NM_001130863.2;ENPP2,missense_variant,p.Met340Leu,ENST00000075322,NM_001040092.2;ENPP2,upstream_gene_variant,,ENST00000522167,;							MODERATE	1018/2592	M340L	ENPP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000075322		CCDS34936.1			1	
CSMD1	0	LGGM	GRCh37	8	3351157	3351157	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	6	2	.	.	ENST00000537824.1:c.1436C>A	p.Ser479Ter	p.S479*	ENST00000537824	NM_033225.5	479	tCg/tAg	0	1	1	UPI0001B723C6	0	NA	ENST00000537824		ENSG00000183117	14026		8	0		HGNC	p.S480X		CSMD1		SNV							ENST00000400186	protein_coding	getma.org/?cm=var&var=hg19,8,3351157,G,T&fts=all		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854		S/*		T	NA	1436/10695		NA		F5GZ18_HUMAN			YES	CSMD1,stop_gained,p.Ser480Ter,ENST00000520002,;CSMD1,stop_gained,p.Ser480Ter,ENST00000602557,;CSMD1,stop_gained,p.Ser480Ter,ENST00000602723,;CSMD1,stop_gained,p.Ser480Ter,ENST00000400186,;CSMD1,stop_gained,p.Ser479Ter,ENST00000537824,NM_033225.5;CSMD1,stop_gained,p.Ser479Ter,ENST00000542608,;CSMD1,stop_gained,p.Ser479Ter,ENST00000539096,;CSMD1,non_coding_transcript_exon_variant,,ENST00000520630,;							HIGH	1436/10695	S480*				Transcript			.	ENSP00000441462		CCDS55189.1			1	
EDC3	0	LGGM	GRCh37	15	74925186	74925186	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	30	3	.	.	ENST00000315127.4:c.1294G>A	p.Ala432Thr	p.A432T	ENST00000315127	NM_025083.3	432	Gcc/Acc	0	1	1	UPI000007309A	0	getma.org/pdb.php?prot=EDC3_HUMAN&from=297&to=467&var=A432T	ENST00000315127		ENSG00000179151	26114		33	2.16		HGNC	p.A432T		EDC3		SNV							ENST00000315127	protein_coding	getma.org/?cm=var&var=hg19,15,74925186,C,T&fts=all		PROSITE_profiles:PS51385,hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612,Pfam_domain:PF03853,Gene3D:3.40.50.10260,Superfamily_domains:SSF64153		A/T		T	medium	1476/3763		getma.org/?cm=msa&ty=f&p=EDC3_HUMAN&rb=297&re=467&var=A432T	deleterious(0)	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN			YES	EDC3,missense_variant,p.Ala432Thr,ENST00000315127,NM_025083.3,NM_001142444.1;EDC3,missense_variant,p.Ala432Thr,ENST00000426797,NM_001142443.1;EDC3,missense_variant,p.Ala432Thr,ENST00000568176,;EDC3,missense_variant,p.Ala59Thr,ENST00000569606,;CLK3,intron_variant,,ENST00000563418,;CLK3,downstream_gene_variant,,ENST00000395066,NM_001130028.1;CLK3,downstream_gene_variant,,ENST00000345005,NM_003992.4;CLK3,downstream_gene_variant,,ENST00000352989,;CLK3,downstream_gene_variant,,ENST00000348245,;CLK3,downstream_gene_variant,,ENST00000563842,;EDC3,downstream_gene_variant,,ENST00000562174,;EDC3,downstream_gene_variant,,ENST00000566219,;CLK3,downstream_gene_variant,,ENST00000566926,;CLK3,intron_variant,,ENST00000561673,;CLK3,downstream_gene_variant,,ENST00000567805,;EDC3,3_prime_UTR_variant,,ENST00000565602,;CLK3,downstream_gene_variant,,ENST00000454830,;CLK3,downstream_gene_variant,,ENST00000569406,;CLK3,downstream_gene_variant,,ENST00000562078,;CLK3,downstream_gene_variant,,ENST00000483723,;CLK3,downstream_gene_variant,,ENST00000568232,;CLK3,downstream_gene_variant,,ENST00000564468,;CLK3,downstream_gene_variant,,ENST00000562626,;							MODERATE	1294/1527	A432T	EDC3_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000320503		CCDS10267.1			1	
ZNF205	0	LGGM	GRCh37	16	3169307	3169307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	16	3	.	.	ENST00000382192.3:c.646G>T	p.Gly216Trp	p.G216W	ENST00000382192	NM_001278158.1	216	Ggg/Tgg	0	1		UPI00000437F2	0	NA	ENST00000219091		ENSG00000122386	12996		19	1.15		HGNC	p.G216W		ZNF205		SNV							ENST00000382192	protein_coding	getma.org/?cm=var&var=hg19,16,3169307,G,T&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF46		G/W		T	low	770/1947		getma.org/?cm=msa&ty=f&p=ZN205_HUMAN&rb=163&re=321&var=G216W	deleterious(0.04)	C9JS60_HUMAN,C9JEY6_HUMAN,B2R7J8_HUMAN				ZNF205,missense_variant,p.Gly216Trp,ENST00000382192,NM_001278158.1,NM_003456.2;ZNF205,missense_variant,p.Gly216Trp,ENST00000219091,NM_001042428.1;ZNF205,missense_variant,p.Gly216Trp,ENST00000414351,;ZNF205,missense_variant,p.Gly105Trp,ENST00000570935,;ZNF205,downstream_gene_variant,,ENST00000444510,;RP11-473M20.14,intron_variant,,ENST00000576490,;RP11-473M20.14,intron_variant,,ENST00000575139,;ZNF205-AS1,upstream_gene_variant,,ENST00000572691,;							MODERATE	646/1665	G216W	ZN205_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000219091		CCDS10494.2			1	
PARP1	0	LGGM	GRCh37	1	226595626	226595626	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	16	3	.	.	ENST00000366794.5:c.5C>A	p.Ala2Glu	p.A2E	ENST00000366794	NM_001618.3	2	gCg/gAg	0	1	1	UPI000013D92D	0	getma.org/pdb.php?prot=PARP1_HUMAN&from=1&to=11&var=A2E	ENST00000366794		ENSG00000143799	270		19	1.845		HGNC	p.A2E		PARP1		SNV							ENST00000366794	protein_coding	getma.org/?cm=var&var=hg19,1,226595626,G,T&fts=all		hmmpanther:PTHR15447:SF13,hmmpanther:PTHR15447,Gene3D:1v9xA00,PIRSF_domain:PIRSF000489		A/E		T	low	149/3958		getma.org/?cm=msa&ty=f&p=PARP1_HUMAN&rb=1&re=41&var=A2E	deleterious(0.01)	Q96P95_HUMAN			YES	PARP1,missense_variant,p.Ala2Glu,ENST00000366794,NM_001618.3;PARP1,missense_variant,p.Ala2Glu,ENST00000366790,;PARP1,missense_variant,p.Ala2Glu,ENST00000366792,;PARP1,missense_variant,p.Ala2Glu,ENST00000366791,;RP11-118H4.3,downstream_gene_variant,,ENST00000604335,;							MODERATE	May-45	A2E	PARP1_HUMAN			Transcript		benign(0.018)	.	ENSP00000355759		CCDS1554.1			1	
YLPM1	0	LGGM	GRCh37	14	75230432	75230432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	11	3	.	.	ENST00000325680.7:c.240C>A	p.His80Gln	p.H80Q	ENST00000325680	NM_019589.2	80	caC/caA	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		14	0.345		HGNC	p.H80Q		YLPM1		SNV							ENST00000238571	protein_coding	getma.org/?cm=var&var=hg19,14,75230432,C,A&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0,Low_complexity_(Seg):seg		H/Q		A	neutral	364/7017		getma.org/?cm=msa&ty=f&p=YLPM1_HUMAN&rb=1&re=288&var=H80Q		B4DMQ9_HUMAN			YES	YLPM1,missense_variant,p.His80Gln,ENST00000325680,NM_019589.2;YLPM1,missense_variant,p.His80Gln,ENST00000238571,;YLPM1,missense_variant,p.His80Gln,ENST00000552421,;							MODERATE	240/6441	H80Q	YLPM1_HUMAN			Transcript		unknown(0)	.	ENSP00000324463		CCDS45135.1			1	
SMCR8	0	LGGM	GRCh37	17	18221056	18221056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	40	3	.	.	ENST00000406438.3:c.1953G>T	p.Glu651Asp	p.E651D	ENST00000406438	NM_144775.2	651	gaG/gaT	0	1	1	UPI0000E0322D	0	NA	ENST00000406438		ENSG00000176994	17921		43	0.46		HGNC	p.E651D		SMCR8		SNV							ENST00000406438	protein_coding	getma.org/?cm=var&var=hg19,17,18221056,G,T&fts=all		hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334		E/D		T	neutral	2433/3427		getma.org/?cm=msa&ty=f&p=SMCR8_HUMAN&rb=453&re=652&var=E651D	tolerated(0.11)				YES	SMCR8,missense_variant,p.Glu651Asp,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,;RPL21P121,downstream_gene_variant,,ENST00000439258,;							MODERATE	1953/2814	E651D	SMCR8_HUMAN			Transcript		benign(0.016)	.	ENSP00000385025		CCDS11195.2			1	
CCNF	0	LGGM	GRCh37	16	2493738	2493738	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	47	3	.	.	ENST00000397066.4:c.866C>A	p.Ala289Asp	p.A289D	ENST00000397066	NM_001761.2	289	gCt/gAt	0	1	1	UPI0000127595	0	getma.org/pdb.php?prot=CCNF_HUMAN&from=281&to=406&var=A289D	ENST00000397066		ENSG00000162063	1591		50	1.245		HGNC	p.A289D		CCNF		SNV							ENST00000397066	protein_coding	getma.org/?cm=var&var=hg19,16,2493738,C,A&fts=all		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF183,Pfam_domain:PF00134		A/D		A	low	954/4283		getma.org/?cm=msa&ty=f&p=CCNF_HUMAN&rb=281&re=406&var=A289D	deleterious(0.03)				YES	CCNF,missense_variant,p.Ala289Asp,ENST00000397066,NM_001761.2;CCNF,missense_variant,p.Ala13Asp,ENST00000564236,;CCNF,3_prime_UTR_variant,,ENST00000293968,;							MODERATE	866/2361	A289D	CCNF_HUMAN			Transcript		benign(0.284)	.	ENSP00000380256		CCDS10467.1			1	
ZNF343	0	LGGM	GRCh37	20	2463856	2463856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	45	3	.	.	ENST00000278772.4:c.1751G>T	p.Arg584Leu	p.R584L	ENST00000278772	NM_024325.4	584	cGa/cTa	0	1	1	UPI000013DB8F	0	getma.org/pdb.php?prot=ZN343_HUMAN&from=577&to=599&var=R584L	ENST00000278772		ENSG00000088876	16017		48	1.81		HGNC	p.R584L		ZNF343		SNV							ENST00000278772	protein_coding	getma.org/?cm=var&var=hg19,20,2463856,C,A&fts=all		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		R/L		A	low	2239/3632		getma.org/?cm=msa&ty=f&p=ZN343_HUMAN&rb=557&re=599&var=R584L	tolerated(0.16)				YES	ZNF343,missense_variant,p.Arg584Leu,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,;							MODERATE	1751/1800	R584L	ZN343_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000278772		CCDS13028.1			1	
GAB4	0	LGGM	GRCh37	22	17444707	17444707	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	9	3	.	.	ENST00000400588.1:c.1489G>A	p.Ala497Thr	p.A497T	ENST00000400588	NM_001037814.1	497	Gca/Aca	0	1	1	UPI00002326B5	0	NA	ENST00000400588		ENSG00000215568	18325		12	0.6		HGNC	p.A497T		GAB4		SNV							ENST00000400588	protein_coding	getma.org/?cm=var&var=hg19,22,17444707,C,T&fts=all		hmmpanther:PTHR12156:SF20,hmmpanther:PTHR12156		A/T		T	neutral	1597/2630		getma.org/?cm=msa&ty=f&p=GAB4_HUMAN&rb=161&re=573&var=A497T	tolerated(0.46)				YES	GAB4,missense_variant,p.Ala497Thr,ENST00000400588,NM_001037814.1;GAB4,downstream_gene_variant,,ENST00000523144,;GAB4,downstream_gene_variant,,ENST00000520505,;GAB4,3_prime_UTR_variant,,ENST00000465611,;							MODERATE	1489/1725	A497T	GAB4_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000383431		CCDS42976.1			1	
RAB6C	0	LGGM	GRCh37	2	130737698	130737698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	8	3	.	.	ENST00000410061.2:c.10G>T	p.Gly4Cys	p.G4C	ENST00000410061	NM_032144.2	4	Ggc/Tgc	0	1	1	UPI00001AF8C6	0	NA	ENST00000410061		ENSG00000222014	16525		11	0.975		HGNC	p.G4C		RAB6C		SNV							ENST00000410061	protein_coding	getma.org/?cm=var&var=hg19,2,130737698,G,T&fts=all				G/C		T	low	464/3077		getma.org/?cm=msa&ty=f&p=RAB6C_HUMAN&rb=1&re=44&var=G4C	deleterious_low_confidence(0)				YES	RAB6C,missense_variant,p.Gly4Cys,ENST00000410061,NM_032144.2;RAB6C-AS1,non_coding_transcript_exon_variant,,ENST00000412425,;							MODERATE	10/765	G4C	RAB6C_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000387307		CCDS46408.1			1	
MARCH6	0	LGGM	GRCh37	5	10390581	10390581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	46	3	.	.	ENST00000274140.5:c.545C>A	p.Pro182Gln	p.P182Q	ENST00000274140	NM_005885.3	182	cCg/cAg	0	1	1	UPI00001B94D6	0	NA	ENST00000274140		ENSG00000145495	30550		49	1.355		HGNC	p.P182Q		MARCH6		SNV							ENST00000274140	protein_coding	getma.org/?cm=var&var=hg19,5,10390581,C,A&fts=all		hmmpanther:PTHR13145:SF0,hmmpanther:PTHR13145		P/Q		A	low	677/9569		getma.org/?cm=msa&ty=f&p=MARH6_HUMAN&rb=56&re=255&var=P182Q	tolerated_low_confidence(0.12)				YES	MARCH6,missense_variant,p.Pro182Gln,ENST00000274140,NM_005885.3;MARCH6,missense_variant,p.Pro134Gln,ENST00000449913,NM_001270660.1;MARCH6,missense_variant,p.Pro77Gln,ENST00000503788,NM_001270661.1;MARCH6,non_coding_transcript_exon_variant,,ENST00000507863,;MARCH6,non_coding_transcript_exon_variant,,ENST00000510872,;MARCH6,3_prime_UTR_variant,,ENST00000502795,;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,;MARCH6,non_coding_transcript_exon_variant,,ENST00000506131,;							MODERATE	545/2733	P182Q	MARH6_HUMAN			Transcript		benign(0.005)	.	ENSP00000274140		CCDS34135.1			1	
FARP2	0	LGGM	GRCh37	2	242380726	242380726	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	36	3	.	.	ENST00000264042.3:c.1166C>A	p.Ser389Ter	p.S389*	ENST00000264042	NM_014808.2	389	tCa/tAa	0	1	1	UPI0000073D5B	0	NA	ENST00000264042		ENSG00000006607	16460		39	0		HGNC	p.S389X		FARP2		SNV							ENST00000373287	protein_coding	getma.org/?cm=var&var=hg19,2,242380726,C,A&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF58		S/*		A	NA	1336/4051		NA		C9JWM9_HUMAN,C9JVQ5_HUMAN			YES	FARP2,stop_gained,p.Ser76Ter,ENST00000413432,;FARP2,stop_gained,p.Ser389Ter,ENST00000264042,NM_014808.2;FARP2,stop_gained,p.Ser389Ter,ENST00000373287,NM_001282983.1;FARP2,stop_gained,p.Ser389Ter,ENST00000545004,NM_001282984.1;							HIGH	1166/3165	S389*	FARP2_HUMAN			Transcript			.	ENSP00000264042		CCDS33424.1			1	
TAF6	0	LGGM	GRCh37	7	99705220	99705220	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	13	3	.	.	ENST00000437822.2:c.1794C>A	p.Pro598=	p.P598=	ENST00000437822	NM_001190415.1	598	ccC/ccA	0	1		UPI0000044681	0		ENST00000344095		ENSG00000106290	11540		16			HGNC	p.P561P		TAF6		SNV							ENST00000453269	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10221,hmmpanther:PTHR10221:SF10		P		T		2209/2727				C9JTY6_HUMAN,C9JIS2_HUMAN,C9JHQ8_HUMAN,C9J7C4_HUMAN,A4D299_HUMAN				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,;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,;AP4M1,downstream_gene_variant,,ENST00000445295,;AP4M1,downstream_gene_variant,,ENST00000478501,;AP4M1,downstream_gene_variant,,ENST00000495154,;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,;							LOW	1683/2034		TAF6_HUMAN			Transcript			.	ENSP00000344537		CCDS5686.1			1	
RYR1	0	LGGM	GRCh37	19	38994933	38994933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	24	3	.	.	ENST00000359596.3:c.8000C>A	p.Thr2667Asn	p.T2667N	ENST00000359596		2667	aCc/aAc	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		27	0		HGNC	p.T2667N		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,38994933,C,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		T/N		A	neutral	8000/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=2566&re=2733&var=T2667N		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Thr2667Asn,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Thr2667Asn,ENST00000360985,;RYR1,missense_variant,p.Thr2667Asn,ENST00000359596,;RYR1,missense_variant,p.Thr485Asn,ENST00000594335,;							MODERATE	8000/15117	T2667N	RYR1_HUMAN			Transcript		benign(0.03)	.	ENSP00000352608		CCDS33011.1			1	
PRKD2	0	LGGM	GRCh37	19	47193942	47193942	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	32	3	.	.	ENST00000433867.1:c.1724G>T	p.Arg575Leu	p.R575L	ENST00000433867	NM_001079881.1	575	cGg/cTg	0	1		UPI000013E03A	0	getma.org/pdb.php?prot=KPCD2_HUMAN&from=553&to=807&var=R575L	ENST00000291281		ENSG00000105287	17293		35	0.655		HGNC	p.R575L		PRKD2		SNV							ENST00000433867	protein_coding	getma.org/?cm=var&var=hg19,19,47193942,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22968,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000552,Superfamily_domains:SSF56112		R/L		A	neutral	1950/3070		getma.org/?cm=msa&ty=f&p=KPCD2_HUMAN&rb=553&re=807&var=R575L	deleterious(0)	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN				PRKD2,missense_variant,p.Arg575Leu,ENST00000433867,NM_001079881.1,NM_016457.4,NM_001079880.1;PRKD2,missense_variant,p.Arg575Leu,ENST00000291281,;PRKD2,missense_variant,p.Arg575Leu,ENST00000595515,;PRKD2,missense_variant,p.Arg418Leu,ENST00000600194,NM_001079882.1;PRKD2,missense_variant,p.Arg418Leu,ENST00000601806,;RN7SL364P,upstream_gene_variant,,ENST00000473668,;PRKD2,upstream_gene_variant,,ENST00000593492,;PRKD2,missense_variant,p.Arg50Leu,ENST00000597390,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599019,;PRKD2,non_coding_transcript_exon_variant,,ENST00000597589,;PRKD2,non_coding_transcript_exon_variant,,ENST00000599464,;PRKD2,upstream_gene_variant,,ENST00000602155,;							MODERATE	1724/2637	R575L	KPCD2_HUMAN			Transcript		possibly_damaging(0.591)	.	ENSP00000291281		CCDS12689.1			1	
KDM7A	0	LGGM	GRCh37	7	139813368	139813368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	37	3	.	.	ENST00000397560.2:c.1261G>T	p.Gly421Cys	p.G421C	ENST00000397560	NM_030647.1	421	Ggt/Tgt	0	1	1	UPI000045761B	0	getma.org/pdb.php?prot=KDM7_HUMAN&from=370&to=490&var=G421C	ENST00000397560		ENSG00000006459	22224		40	1.815		HGNC	p.G421C		KDM7A		SNV							ENST00000397560	protein_coding	getma.org/?cm=var&var=hg19,7,139813368,C,A&fts=all		hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF15		G/C		A	low	1359/9272		getma.org/?cm=msa&ty=f&p=KDM7_HUMAN&rb=370&re=490&var=G421C	deleterious(0)				YES	KDM7A,missense_variant,p.Gly421Cys,ENST00000397560,NM_030647.1;KDM7A,missense_variant,p.Gly421Cys,ENST00000006967,;KDM7A,missense_variant,p.Gly16Cys,ENST00000472616,;							MODERATE	1261/2826	G421C	KDM7_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000380692		CCDS43658.1			1	
KIAA0825	0	LGGM	GRCh37	5	93812894	93812894	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	34	3	.	.	ENST00000312498.7:c.1149C>A	p.Ser383=	p.S383=	ENST00000312498		383	tcC/tcA	0	1	1	UPI0001D3B505	0		ENST00000513200		ENSG00000185261	28532		37			HGNC	p.S383S		KIAA0825		SNV							ENST00000427991	protein_coding					S		T		1222/4942				C9J0Q2_HUMAN				KIAA0825,synonymous_variant,p.=,ENST00000513200,NM_001145678.1;KIAA0825,synonymous_variant,p.=,ENST00000427991,;KIAA0825,synonymous_variant,p.=,ENST00000312498,;KIAA0825,upstream_gene_variant,,ENST00000504117,;							LOW	1149/3828					Transcript			.	ENSP00000424618					1	
AC062017.1	0	LGGM	GRCh37	2	240323934	240323934	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	30	3	.	.	ENST00000413029.1:c.331C>A	p.Ser111=	p.S111=	ENST00000413029		111	tcC/tcA	0	1	1	UPI0001881A16	0		ENST00000413029		ENSG00000222020			33			Clone_based_vega_gene	p.S54S		AC062017.1		SNV							ENST00000409526	protein_coding					S		A		331/455				B8ZZD5_HUMAN			YES	AC062017.1,synonymous_variant,p.=,ENST00000413029,;AC062017.1,synonymous_variant,p.=,ENST00000428471,;AC062017.1,synonymous_variant,p.=,ENST00000409526,;HDAC4,upstream_gene_variant,,ENST00000345617,NM_006037.3;HDAC4,upstream_gene_variant,,ENST00000544989,;HDAC4,upstream_gene_variant,,ENST00000493582,;							LOW	333/339					Transcript			.	ENSP00000390260					1	
ING3	0	LGGM	GRCh37	7	120595678	120595678	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	43	3	.	.	ENST00000315870.5:c.267G>T	p.Leu89Phe	p.L89F	ENST00000315870	NM_019071.2	89	ttG/ttT	0	1	1	UPI00000373B3	0	getma.org/pdb.php?prot=ING3_HUMAN&from=2&to=104&var=L89F	ENST00000315870		ENSG00000071243	14587		46	3.31		HGNC	p.L89F		ING3		SNV			1				ENST00000315870	protein_coding	getma.org/?cm=var&var=hg19,7,120595678,G,T&fts=all		hmmpanther:PTHR10333,Pfam_domain:PF12998		L/F		T	medium	415/3777		getma.org/?cm=msa&ty=f&p=ING3_HUMAN&rb=2&re=104&var=L89F	deleterious(0)	E7ET07_HUMAN			YES	ING3,missense_variant,p.Leu89Phe,ENST00000315870,NM_019071.2;ING3,missense_variant,p.Leu89Phe,ENST00000445699,;ING3,missense_variant,p.Leu74Phe,ENST00000431467,;ING3,missense_variant,p.Leu89Phe,ENST00000339121,NM_198267.1;ING3,missense_variant,p.Leu89Phe,ENST00000427726,;							MODERATE	267/1257	L89F	ING3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000320566		CCDS5778.1			1	
BRD9	0	LGGM	GRCh37	5	881249	881249	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	18	3	.	.	ENST00000467963.1:c.1015G>T	p.Val339Phe	p.V339F	ENST00000467963	NM_023924.4	339	Gtc/Ttc	0	1	1	UPI000020BEBE	0	NA	ENST00000467963		ENSG00000028310	25818		21	2.14		HGNC	p.V339F		BRD9		SNV							ENST00000467963	protein_coding	getma.org/?cm=var&var=hg19,5,881249,C,A&fts=all		Pfam_domain:PF12024,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4		V/F		A	medium	1182/2156		getma.org/?cm=msa&ty=f&p=BRD9_HUMAN&rb=268&re=505&var=V339F	tolerated(0.06)				YES	BRD9,missense_variant,p.Val243Phe,ENST00000323510,;BRD9,missense_variant,p.Val223Phe,ENST00000388890,;BRD9,missense_variant,p.Val339Phe,ENST00000467963,NM_023924.4;BRD9,missense_variant,p.Val286Phe,ENST00000483173,NM_001009877.2;BRD9,intron_variant,,ENST00000435709,;BRD9,downstream_gene_variant,,ENST00000489093,;BRD9,non_coding_transcript_exon_variant,,ENST00000519838,;BRD9,intron_variant,,ENST00000494422,;BRD9,3_prime_UTR_variant,,ENST00000490814,;BRD9,3_prime_UTR_variant,,ENST00000489816,;BRD9,3_prime_UTR_variant,,ENST00000495265,;BRD9,non_coding_transcript_exon_variant,,ENST00000495794,;BRD9,intron_variant,,ENST00000466684,;BRD9,intron_variant,,ENST00000475706,;BRD9,upstream_gene_variant,,ENST00000483234,;BRD9,upstream_gene_variant,,ENST00000519112,;BRD9,upstream_gene_variant,,ENST00000493082,;BRD9,upstream_gene_variant,,ENST00000523139,;BRD9,upstream_gene_variant,,ENST00000518251,;							MODERATE	1015/1794	V339F	BRD9_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000419765		CCDS34127.2			1	
TRIM42	0	LGGM	GRCh37	3	140401686	140401686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	41	3	.	.	ENST00000286349.3:c.724C>A	p.Arg242Ser	p.R242S	ENST00000286349	NM_152616.4	242	Cgc/Agc	0	1	1	UPI00001AEAE0	0	NA	ENST00000286349		ENSG00000155890	19014		44	0.14		HGNC	p.R242S		TRIM42		SNV							ENST00000286349	protein_coding	getma.org/?cm=var&var=hg19,3,140401686,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,SMART_domains:SM00336		R/S		A	neutral	915/2539		getma.org/?cm=msa&ty=f&p=TRI42_HUMAN&rb=100&re=284&var=R242S	deleterious(0.01)				YES	TRIM42,missense_variant,p.Arg242Ser,ENST00000286349,NM_152616.4;							MODERATE	724/2172	R242S	TRI42_HUMAN			Transcript		benign(0.436)	.	ENSP00000286349		CCDS3113.1			1	
WNT2B	0	LGGM	GRCh37	1	113058998	113058998	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	31	3	.	.	ENST00000369684.4:c.640C>A	p.Arg214=	p.R214=	ENST00000369684	NM_024494.2	214	Cgg/Agg	0	1	1	UPI0000138F23	0		ENST00000369684		ENSG00000134245	12781		34			HGNC	p.R214R		WNT2B		SNV							ENST00000369684	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00110,Prints_domain:PR01842,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF93,SMART_domains:SM00097		R		A		1125/3818				Q5TEH9_HUMAN,Q5TEH8_HUMAN			YES	WNT2B,synonymous_variant,p.=,ENST00000369686,NM_004185.3;WNT2B,synonymous_variant,p.=,ENST00000369684,NM_024494.2;WNT2B,synonymous_variant,p.=,ENST00000256640,;RP4-671G15.2,downstream_gene_variant,,ENST00000608357,;WNT2B,non_coding_transcript_exon_variant,,ENST00000478360,;							LOW	640/1176		WNT2B_HUMAN			Transcript			.	ENSP00000358698		CCDS847.1			1	
MTUS1	0	LGGM	GRCh37	8	17612265	17612265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	38	3	.	.	ENST00000262102.6:c.1052C>A	p.Pro351His	p.P351H	ENST00000262102	NM_001001924.2	351	cCt/cAt	0	1	1	UPI000003FF3C	0	NA	ENST00000262102		ENSG00000129422	29789		41	0.975		HGNC	p.P351H		MTUS1		SNV			1				ENST00000381862	protein_coding	getma.org/?cm=var&var=hg19,8,17612265,G,T&fts=all		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7		P/H		T	low	1277/6160		getma.org/?cm=msa&ty=f&p=MTUS1_HUMAN&rb=1&re=809&var=P351H	deleterious(0.01)				YES	MTUS1,missense_variant,p.Pro351His,ENST00000381869,NM_001001925.2;MTUS1,missense_variant,p.Pro351His,ENST00000262102,NM_001001924.2;MTUS1,missense_variant,p.Pro351His,ENST00000519263,;MTUS1,missense_variant,p.Pro351His,ENST00000381862,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,missense_variant,p.Pro86His,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;							MODERATE	1052/3813	P351H	MTUS1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000262102		CCDS43717.1			1	
DUSP2	0	LGGM	GRCh37	2	96809955	96809955	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	16	3	.	.	ENST00000288943.4:c.668C>A	p.Pro223His	p.P223H	ENST00000288943	NM_004418.3	223	cCt/cAt	0	1	1	UPI000012995D	0	getma.org/pdb.php?prot=DUS2_HUMAN&from=180&to=310&var=P223H	ENST00000288943		ENSG00000158050	3068		19	2.62		HGNC	p.P223H		DUSP2		SNV							ENST00000288943	protein_coding	getma.org/?cm=var&var=hg19,2,96809955,G,T&fts=all		PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF109,hmmpanther:PTHR10159,Gene3D:3.90.190.10,Pfam_domain:PF00782,SMART_domains:SM00195,SMART_domains:SM00404,PIRSF_domain:PIRSF000939,Superfamily_domains:SSF52799,Prints_domain:PR01764		P/H		T	medium	754/1688		getma.org/?cm=msa&ty=f&p=DUS2_HUMAN&rb=180&re=310&var=P223H	deleterious(0)				YES	DUSP2,missense_variant,p.Pro223His,ENST00000288943,NM_004418.3;AC012307.2,downstream_gene_variant,,ENST00000449242,;DUSP2,non_coding_transcript_exon_variant,,ENST00000488952,;							MODERATE	668/945	P223H	DUS2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000288943		CCDS2016.1			1	
LOXL2	0	LGGM	GRCh37	8	23225689	23225689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	22	3	.	.	ENST00000389131.3:c.176G>T	p.Arg59Leu	p.R59L	ENST00000389131	NM_002318.2	59	cGc/cTc	0	1	1	UPI000012E7AB	0	NA	ENST00000389131		ENSG00000134013	6666		25	3.685		HGNC	p.R140L	COSM1552129	LOXL2		SNV						1	ENST00000524144	protein_coding	getma.org/?cm=var&var=hg19,8,23225689,C,A&fts=all		Superfamily_domains:SSF56487,SMART_domains:SM00202,Gene3D:3.10.250.10,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF10,PROSITE_profiles:PS50287		R/L		A	high	546/3549		getma.org/?cm=msa&ty=f&p=LOXL2_HUMAN&rb=58&re=159&var=R59L	deleterious(0)	E5RJL2_HUMAN,E5RI22_HUMAN,E5RFE2_HUMAN			YES	LOXL2,splice_donor_variant,,ENST00000523833,;LOXL2,missense_variant,p.Arg59Leu,ENST00000389131,NM_002318.2;LOXL2,missense_variant,p.Arg140Leu,ENST00000524144,;LOXL2,missense_variant,p.Arg100Leu,ENST00000520871,;LOXL2,missense_variant,p.Arg59Leu,ENST00000519243,;LOXL2,missense_variant,p.Arg59Leu,ENST00000524168,;LOXL2,missense_variant,p.Arg59Leu,ENST00000518083,;RP11-177H13.2,downstream_gene_variant,,ENST00000519692,;					1		MODERATE	176/2325	R59L	LOXL2_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000373783		CCDS34864.1			1	
SPTBN2	0	LGGM	GRCh37	11	66458873	66458873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	27	3	.	.	ENST00000533211.1:c.5447G>T	p.Arg1816Leu	p.R1816L	ENST00000533211		1816	cGg/cTg	0	1		UPI000013EF83	0	getma.org/pdb.php?prot=SPTN2_HUMAN&from=1801&to=1905&var=R1816L	ENST00000309996		ENSG00000173898	11276		30	1.82		HGNC	p.R1816L		SPTBN2		SNV			1				ENST00000533211	protein_coding	getma.org/?cm=var&var=hg19,11,66458873,C,A&fts=all		hmmpanther:PTHR11915:SF205,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150		R/L		A	low	5519/7866		getma.org/?cm=msa&ty=f&p=SPTN2_HUMAN&rb=1801&re=1905&var=R1816L	tolerated(0.4)	E9PJZ2_HUMAN,C1KC08_HUMAN				SPTBN2,missense_variant,p.Arg1816Leu,ENST00000533211,;SPTBN2,missense_variant,p.Arg1816Leu,ENST00000529997,;SPTBN2,missense_variant,p.Arg1816Leu,ENST00000309996,NM_006946.2;SPTBN2,upstream_gene_variant,,ENST00000532902,;SPTBN2,upstream_gene_variant,,ENST00000528051,;SPTBN2,upstream_gene_variant,,ENST00000532650,;SPTBN2,upstream_gene_variant,,ENST00000530775,;SPTBN2,downstream_gene_variant,,ENST00000530665,;							MODERATE	5447/7173	R1816L	SPTN2_HUMAN			Transcript		benign(0.001)	.	ENSP00000311489		CCDS8150.1			1	
LRFN2	0	LGGM	GRCh37	6	40400155	40400155	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	35	3	.	.	ENST00000338305.6:c.698C>A	p.Pro233Gln	p.P233Q	ENST00000338305	NM_020737.1	233	cCa/cAa	0	1	1	UPI00001C1E47	0	getma.org/pdb.php?prot=LRFN2_HUMAN&from=210&to=288&var=P233Q	ENST00000338305		ENSG00000156564	21226		38	1.735		HGNC	p.P233Q		LRFN2		SNV							ENST00000338305	protein_coding	getma.org/?cm=var&var=hg19,6,40400155,G,T&fts=all		Superfamily_domains:SSF52058,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF25		P/Q		T	low	1241/3270		getma.org/?cm=msa&ty=f&p=LRFN2_HUMAN&rb=210&re=288&var=P233Q	deleterious(0.04)				YES	LRFN2,missense_variant,p.Pro233Gln,ENST00000338305,NM_020737.1;							MODERATE	698/2370	P233Q	LRFN2_HUMAN			Transcript		possibly_damaging(0.616)	.	ENSP00000345985		CCDS34443.1			1	
PPP2R1A	0	LGGM	GRCh37	19	52705260	52705260	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	44	3	.	.	ENST00000322088.6:c.142C>A	p.Arg48=	p.R48=	ENST00000322088	NM_014225.5	48	Cga/Aga	0	1	1	UPI000006EB9C	0		ENST00000322088		ENSG00000105568	9302		47			HGNC	p.P26P		PPP2R1A		SNV			1				ENST00000444322	protein_coding			Gene3D:1.25.10.10,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371		R		A		200/3281				B4DDF7_HUMAN,B3KQV6_HUMAN,A8K7B7_HUMAN			YES	PPP2R1A,synonymous_variant,p.=,ENST00000322088,NM_014225.5;PPP2R1A,synonymous_variant,p.=,ENST00000444322,;PPP2R1A,synonymous_variant,p.=,ENST00000454220,;PPP2R1A,5_prime_UTR_variant,,ENST00000462990,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000473455,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000495876,;PPP2R1A,3_prime_UTR_variant,,ENST00000490868,;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000468280,;							LOW	142/1770		2AAA_HUMAN			Transcript			.	ENSP00000324804		CCDS12849.1			1	
CATSPER2	0	LGGM	GRCh37	15	43932605	43932605	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	40	3	.	.	ENST00000321596.5:c.478G>T	p.Glu160Ter	p.E160*	ENST00000321596		160	Gag/Tag	0	1	1	UPI000006DE3A	0	NA	ENST00000321596		ENSG00000166762	18810		43	0		HGNC	p.E160X		CATSPER2		SNV			1				ENST00000354127	protein_coding	getma.org/?cm=var&var=hg19,15,43932605,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Superfamily_domains:SSF81324,Pfam_domain:PF00520,Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF189		E/*		A	NA	678/1820		NA		E7EX46_HUMAN,B8ZZQ9_HUMAN			YES	CATSPER2,stop_gained,p.Glu160Ter,ENST00000396879,NM_001282309.1;CATSPER2,stop_gained,p.Glu160Ter,ENST00000354127,NM_054020.2,NM_172095.1;CATSPER2,stop_gained,p.Glu160Ter,ENST00000321596,;CATSPER2,stop_gained,p.Glu166Ter,ENST00000381761,NM_001282310.1;CATSPER2,stop_gained,p.Glu160Ter,ENST00000355438,;STRC,intron_variant,,ENST00000541030,;RNU6-610P,upstream_gene_variant,,ENST00000384264,;CATSPER2,stop_gained,p.Glu160Ter,ENST00000433380,;CATSPER2,non_coding_transcript_exon_variant,,ENST00000469461,;CATSPER2,non_coding_transcript_exon_variant,,ENST00000415968,;							HIGH	478/1593	E160*	CTSR2_HUMAN			Transcript			.	ENSP00000321463		CCDS10099.1			1	
AMPD2	0	LGGM	GRCh37	1	110168057	110168057	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	36	4	.	.	ENST00000256578.3:c.384+2T>C		p.X128_splice	ENST00000256578	NM_004037.7			0	1	1	UPI0000125956	0		ENST00000256578		ENSG00000116337	469		40			HGNC	-		AMPD2		SNV			1				ENST00000531734	protein_coding							C		-/3899				E9PIJ1_HUMAN			YES	AMPD2,splice_donor_variant,,ENST00000256578,NM_004037.7;AMPD2,splice_donor_variant,,ENST00000342115,NM_139156.3;AMPD2,splice_donor_variant,,ENST00000528667,NM_001257360.1;AMPD2,splice_donor_variant,,ENST00000369840,;AMPD2,splice_donor_variant,,ENST00000528454,NM_001257361.1;AMPD2,splice_donor_variant,,ENST00000527846,;AMPD2,splice_donor_variant,,ENST00000531203,;AMPD2,splice_donor_variant,,ENST00000531734,;AMPD2,intron_variant,,ENST00000358729,;AMPD2,intron_variant,,ENST00000474459,;AMPD2,upstream_gene_variant,,ENST00000393688,NM_203404.1;AMPD2,upstream_gene_variant,,ENST00000476688,;AMPD2,downstream_gene_variant,,ENST00000469039,;RP5-1160K1.6,downstream_gene_variant,,ENST00000369843,;AMPD2,splice_donor_variant,,ENST00000526301,;AMPD2,intron_variant,,ENST00000459643,;AMPD2,splice_donor_variant,,ENST00000528270,;AMPD2,intron_variant,,ENST00000486282,;AMPD2,upstream_gene_variant,,ENST00000532851,;AMPD2,upstream_gene_variant,,ENST00000533132,;AMPD2,upstream_gene_variant,,ENST00000479919,;AMPD2,upstream_gene_variant,,ENST00000524975,;AMPD2,upstream_gene_variant,,ENST00000529299,;AMPD2,upstream_gene_variant,,ENST00000525415,;AMPD2,upstream_gene_variant,,ENST00000467071,;AMPD2,upstream_gene_variant,,ENST00000534144,;							HIGH	384/2640		AMPD2_HUMAN			Transcript			.	ENSP00000256578		CCDS805.1			1	
FUS	0	LGGM	GRCh37	16	31199652	31199652	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	58	4	.	.	ENST00000254108.7:c.806G>T	p.Arg269Leu	p.R269L	ENST00000254108	NM_004960.3	269	cGg/cTg	0	1	1	UPI000012AD9A	0	NA	ENST00000254108		ENSG00000089280	4010		62	1.83		HGNC	p.R269L		FUS		SNV			1				ENST00000254108	protein_coding	getma.org/?cm=var&var=hg19,16,31199652,G,T&fts=all		hmmpanther:PTHR23238:SF5,hmmpanther:PTHR23238,Gene3D:3.30.70.330		R/L		T	low	911/2054		getma.org/?cm=msa&ty=f&p=FUS_HUMAN&rb=201&re=286&var=R269L	tolerated(0.14)	Q6IBQ5_HUMAN			YES	FUS,missense_variant,p.Arg269Leu,ENST00000254108,NM_004960.3,NM_001170937.1,NM_001170634.1;FUS,missense_variant,p.Arg268Leu,ENST00000380244,;FUS,missense_variant,p.Arg269Leu,ENST00000568685,;FUS,non_coding_transcript_exon_variant,,ENST00000474990,;FUS,synonymous_variant,p.=,ENST00000566605,;FUS,non_coding_transcript_exon_variant,,ENST00000487509,;FUS,non_coding_transcript_exon_variant,,ENST00000568901,;FUS,downstream_gene_variant,,ENST00000487045,;FUS,upstream_gene_variant,,ENST00000564766,;FUS,upstream_gene_variant,,ENST00000483853,;FUS,downstream_gene_variant,,ENST00000487974,;FUS,upstream_gene_variant,,ENST00000569760,;FUS,downstream_gene_variant,,ENST00000570090,;							MODERATE	806/1581	R269L	FUS_HUMAN			Transcript		benign(0.25)	.	ENSP00000254108		CCDS10707.1			1	
ANKRD36	0	LGGM	GRCh37	2	97818267	97818267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	48	4	.	.	ENST00000420699.2:c.1189G>T	p.Asp397Tyr	p.D397Y	ENST00000420699	NM_001164315.1	397	Gac/Tac	0	1	1	UPI0001B23BB4	0	NA	ENST00000420699		ENSG00000135976	24079		52	0		HGNC	p.D397Y		ANKRD36		SNV							ENST00000461153	protein_coding	getma.org/?cm=var&var=hg19,2,97818267,G,T&fts=all		hmmpanther:PTHR24176,hmmpanther:PTHR24176:SF1		D/Y		T	neutral	1433/6269		getma.org/?cm=msa&ty=f&p=AN36A_HUMAN&rb=267&re=1470&var=D397Y	deleterious_low_confidence(0)				YES	ANKRD36,missense_variant,p.Asp397Tyr,ENST00000420699,NM_001164315.1;ANKRD36,missense_variant,p.Asp397Tyr,ENST00000461153,;							MODERATE	1189/5826	D397Y	AN36A_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000391950		CCDS54379.1			1	
IGSF10	0	LGGM	GRCh37	3	151164755	151164755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	50	4	.	.	ENST00000282466.3:c.3014C>A	p.Pro1005Gln	p.P1005Q	ENST00000282466	NM_178822.4	1005	cCg/cAg	0	1	1	UPI00001D629A	0	NA	ENST00000282466		ENSG00000152580	26384		54	1.04		HGNC	p.P1005Q		IGSF10		SNV							ENST00000282466	protein_coding	getma.org/?cm=var&var=hg19,3,151164755,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF29		P/Q		T	low	3014/11067		getma.org/?cm=msa&ty=f&p=IGS10_HUMAN&rb=870&re=1561&var=P1005Q	deleterious(0.02)				YES	IGSF10,missense_variant,p.Pro1005Gln,ENST00000282466,NM_178822.4,NM_001178145.1,NM_001178146.1;IGSF10,upstream_gene_variant,,ENST00000489791,;							MODERATE	3014/7872	P1005Q	IGS10_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000282466		CCDS3160.1			1	
ERAL1	0	LGGM	GRCh37	17	27187471	27187471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	42	4	.	.	ENST00000254928.5:c.1214G>T	p.Gly405Val	p.G405V	ENST00000254928	NM_005702.2	405	gGc/gTc	0	1	1	UPI000006DECC	0	getma.org/pdb.php?prot=ERAL1_HUMAN&from=360&to=437&var=G405V	ENST00000254928		ENSG00000132591	3424		46	3.675		HGNC	p.G405V		ERAL1		SNV							ENST00000254928	protein_coding	getma.org/?cm=var&var=hg19,17,27187471,G,T&fts=all		Gene3D:3.30.300.20,HAMAP:MF_00367,hmmpanther:PTHR11649,hmmpanther:PTHR11649:SF3,Superfamily_domains:SSF54814		G/V		T	high	1311/1925		getma.org/?cm=msa&ty=f&p=ERAL1_HUMAN&rb=360&re=437&var=G405V	deleterious(0)				YES	ERAL1,missense_variant,p.Gly405Val,ENST00000254928,NM_005702.2;ERAL1,intron_variant,,ENST00000583487,;ERAL1,downstream_gene_variant,,ENST00000580917,;MIR451B,downstream_gene_variant,,ENST00000582320,;MIR451B,downstream_gene_variant,,ENST00000384886,;MIR451B,downstream_gene_variant,,ENST00000581873,;MIR451B,downstream_gene_variant,,ENST00000385059,;ERAL1,downstream_gene_variant,,ENST00000578001,;ERAL1,3_prime_UTR_variant,,ENST00000461894,;ERAL1,non_coding_transcript_exon_variant,,ENST00000471992,;ERAL1,downstream_gene_variant,,ENST00000412138,;ERAL1,downstream_gene_variant,,ENST00000577942,;							MODERATE	1214/1314	G405V	ERAL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000254928		CCDS11244.1			1	
LRRC4	0	LGGM	GRCh37	7	127669841	127669841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	21	4	.	.	ENST00000249363.3:c.853C>A	p.Leu285Ile	p.L285I	ENST00000249363	NM_022143.4	285	Ctc/Atc	0	1	1	UPI0000049DF3	0	getma.org/pdb.php?prot=LRRC4_HUMAN&from=242&to=301&var=L285I	ENST00000249363		ENSG00000128594	15586		25	0.73		HGNC	p.L285I	COSM3877909	LRRC4		SNV						1	ENST00000249363	protein_coding	getma.org/?cm=var&var=hg19,7,127669841,G,T&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF9,SMART_domains:SM00369,Superfamily_domains:SSF52058		L/I		T	neutral	1111/3828		getma.org/?cm=msa&ty=f&p=LRRC4_HUMAN&rb=242&re=301&var=L285I	deleterious(0.04)	C9JA92_HUMAN,C9J7V8_HUMAN,C9J7K7_HUMAN			YES	LRRC4,missense_variant,p.Leu285Ile,ENST00000249363,NM_022143.4;SND1,intron_variant,,ENST00000354725,NM_014390.2;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000476782,;LRRC4,downstream_gene_variant,,ENST00000494115,;LRRC4,downstream_gene_variant,,ENST00000478726,;SND1,intron_variant,,ENST00000470723,;SND1,intron_variant,,ENST00000484767,;					1		MODERATE	853/1962	L285I	LRRC4_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000249363		CCDS5799.1			1	
ZNF17	0	LGGM	GRCh37	19	57931532	57931532	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	85	4	.	.	ENST00000601808.1:c.672C>A	p.Gly224=	p.G224=	ENST00000601808	NM_006959.2	224	ggC/ggA	0	1	1	UPI00001D8198	0		ENST00000601808		ENSG00000186272	12958		89			HGNC	p.G226G		ZNF17		SNV							ENST00000307658	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		A		885/2524							YES	ZNF17,synonymous_variant,p.=,ENST00000307658,;ZNF17,synonymous_variant,p.=,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,;							LOW	672/1989		ZNF17_HUMAN			Transcript			.	ENSP00000471905		CCDS42636.1			1	
GALNT2	0	LGGM	GRCh37	1	230339018	230339018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	92	4	.	.	ENST00000366672.4:c.356C>A	p.Pro119His	p.P119H	ENST00000366672	NM_004481.3	119	cCt/cAt	0	1	1	UPI0000074053	0	getma.org/pdb.php?prot=GALT2_HUMAN&from=1&to=138&var=P119H	ENST00000366672		ENSG00000143641	4124		96	2.55		HGNC	p.P81H		GALNT2		SNV							ENST00000543760	protein_coding	getma.org/?cm=var&var=hg19,1,230339018,C,A&fts=all		hmmpanther:PTHR11675:SF24,hmmpanther:PTHR11675,Superfamily_domains:SSF53448		P/H		A	medium	428/4454		getma.org/?cm=msa&ty=f&p=GALT2_HUMAN&rb=1&re=138&var=P119H	deleterious(0.03)				YES	GALNT2,missense_variant,p.Pro119His,ENST00000366672,NM_004481.3;GALNT2,missense_variant,p.Pro81His,ENST00000543760,;GALNT2,missense_variant,p.Pro29His,ENST00000541865,;GALNT2,non_coding_transcript_exon_variant,,ENST00000494106,;							MODERATE	356/1716	P119H	GALT2_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000355632		CCDS1582.1			1	
VAV3	0	LGGM	GRCh37	1	108298136	108298136	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	14	5	.	.	ENST00000370056.4:c.1087-1G>A		p.X363_splice	ENST00000370056	NM_006113.4			0	1	1	UPI0000138212	0		ENST00000370056		ENSG00000134215	12659		19			HGNC	-		VAV3		SNV							ENST00000370056	protein_coding							T		-/4990				F5GXH7_HUMAN			YES	VAV3,splice_acceptor_variant,,ENST00000370056,NM_006113.4;VAV3,splice_acceptor_variant,,ENST00000527011,;VAV3,splice_acceptor_variant,,ENST00000490388,;VAV3,splice_acceptor_variant,,ENST00000371846,;VAV3,splice_acceptor_variant,,ENST00000343258,;VAV3,splice_acceptor_variant,,ENST00000469325,;							HIGH	1087/2544		VAV3_HUMAN			Transcript			.	ENSP00000359073		CCDS785.1			1	
HSP90AB1	0	LGGM	GRCh37	6	44221299	44221299	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	42	5	.	.	ENST00000371554.1:c.2139C>T	p.Gly713=	p.G713=	ENST00000371554		713	ggC/ggT	0	1		UPI00001411EF	0		ENST00000353801		ENSG00000096384	5258	0.162	47			HGNC	p.G713G	rs143048794,COSM95951	HSP90AB1	0.184	SNV				0.103		0,1	ENST00000371554	protein_coding			PIRSF_domain:PIRSF002583,Pfam_domain:PF00183,hmmpanther:PTHR11528		G		T		2261/2582	0.178			A8K3W9_HUMAN				HSP90AB1,synonymous_variant,p.=,ENST00000371554,;HSP90AB1,synonymous_variant,p.=,ENST00000353801,NM_001271969.1;HSP90AB1,synonymous_variant,p.=,ENST00000371646,NM_007355.3,NM_001271971.1,NM_001271972.1,NM_001271970.1;NFKBIE,downstream_gene_variant,,ENST00000275015,NM_004556.2;SLC35B2,downstream_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,downstream_gene_variant,,ENST00000393810,;SLC35B2,downstream_gene_variant,,ENST00000538577,NM_001286513.1;SLC35B2,downstream_gene_variant,,ENST00000537814,;MIR4647,downstream_gene_variant,,ENST00000583964,;SLC35B2,downstream_gene_variant,,ENST00000495706,;	0.117				0,1		LOW	2139/2175		HS90B_HUMAN	0.222		Transcript			common_variant	ENSP00000325875	0.166	CCDS4909.1	0.186		1	
B3GNT4	0	LGGM	GRCh37	12	122691771	122691771	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	15	6	.	.	ENST00000324189.4:c.973T>A	p.Phe325Ile	p.F325I	ENST00000324189	NM_030765.2	325	Ttc/Atc	0	1	1	UPI0000051E30	0	NA	ENST00000324189		ENSG00000176383	15683		21	1.505		HGNC	p.F300I		B3GNT4		SNV							ENST00000535274	protein_coding	getma.org/?cm=var&var=hg19,12,122691771,T,A&fts=all		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF27		F/I		A	low	1329/1642		getma.org/?cm=msa&ty=f&p=B3GN4_HUMAN&rb=324&re=378&var=F325I	tolerated(0.06)				YES	B3GNT4,missense_variant,p.Phe300Ile,ENST00000535274,;B3GNT4,missense_variant,p.Phe300Ile,ENST00000546192,;B3GNT4,missense_variant,p.Phe325Ile,ENST00000324189,NM_030765.2;DIABLO,downstream_gene_variant,,ENST00000464942,NM_001278304.1;DIABLO,downstream_gene_variant,,ENST00000443649,NM_019887.5;DIABLO,downstream_gene_variant,,ENST00000413918,;LRRC43,downstream_gene_variant,,ENST00000339777,NM_152759.4;LRRC43,downstream_gene_variant,,ENST00000425921,NM_001098519.1;DIABLO,downstream_gene_variant,,ENST00000353548,NM_001278342.1;DIABLO,downstream_gene_variant,,ENST00000267169,NM_138930.3;DIABLO,downstream_gene_variant,,ENST00000474004,;DIABLO,downstream_gene_variant,,ENST00000541656,;DIABLO,downstream_gene_variant,,ENST00000540535,;DIABLO,downstream_gene_variant,,ENST00000439489,;DIABLO,downstream_gene_variant,,ENST00000446652,;DIABLO,downstream_gene_variant,,ENST00000541273,;B3GNT4,intron_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000537733,;B3GNT4,downstream_gene_variant,,ENST00000537991,;B3GNT4,downstream_gene_variant,,ENST00000538257,;RP11-512M8.5,downstream_gene_variant,,ENST00000535844,;DIABLO,downstream_gene_variant,,ENST00000342392,;							MODERATE	973/1137	F325I	B3GN4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000319636		CCDS9227.1			1	
STAB2	0	LGGM	GRCh37	12	104060118	104060118	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	15	7	.	.	ENST00000388887.2:c.2072A>C	p.Asn691Thr	p.N691T	ENST00000388887	NM_017564.9	691	aAc/aCc	0	1	1	UPI00001ADDF4	0	NA	ENST00000388887		ENSG00000136011	18629		22	1.845		HGNC	p.N691T		STAB2		SNV							ENST00000388887	protein_coding	getma.org/?cm=var&var=hg19,12,104060118,A,C&fts=all		hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038		N/T		C	low	2276/8251		getma.org/?cm=msa&ty=f&p=STAB2_HUMAN&rb=655&re=854&var=N691T	deleterious(0.03)	H0YIF3_HUMAN			YES	STAB2,missense_variant,p.Asn691Thr,ENST00000388887,NM_017564.9;RP11-341G23.3,downstream_gene_variant,,ENST00000550175,;							MODERATE	2072/7656	N691T	STAB2_HUMAN			Transcript		benign(0.35)	.	ENSP00000373539		CCDS31888.1			1	
SRFBP1	0	LGGM	GRCh37	5	121297756	121297756	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	49	7	.	.	ENST00000339397.4:c.29A>G	p.Asn10Ser	p.N10S	ENST00000339397	NM_152546.2	10	aAt/aGt	0	1	1	UPI000006DEC3	0	NA	ENST00000339397		ENSG00000151304	26333		56	1.775		HGNC	p.N10S	rs202222308	SRFBP1		SNV				0.000204			ENST00000339397	protein_coding	getma.org/?cm=var&var=hg19,5,121297756,A,G&fts=all	T:0	hmmpanther:PTHR23325		N/S		G	low	101/2855		getma.org/?cm=msa&ty=f&p=SRFB1_HUMAN&rb=1&re=200&var=N10S	tolerated(0.06)		T:0	T:0.001	YES	SRFBP1,missense_variant,p.Asn10Ser,ENST00000339397,NM_152546.2;		T:0.0002					MODERATE	29/1290	N10S	SRFB1_HUMAN		T:0	Transcript		benign(0.017)	.	ENSP00000341324	1.65E-05	CCDS43354.1		T:0	1	
MDN1	0	LGGM	GRCh37	6	90402647	90402647	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	13	7	.	.	ENST00000369393.3:c.10102C>T	p.Leu3368Phe	p.L3368F	ENST00000369393		3368	Ctt/Ttt	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		20	2.38		HGNC	p.L3368F		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90402647,G,A&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		L/F		A	medium	10218/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=3215&re=4787&var=L3368F		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Leu3368Phe,ENST00000369393,;MDN1,missense_variant,p.Leu3368Phe,ENST00000428876,NM_014611.1;							MODERATE	10102/16791	L3368F	MDN1_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000358400		CCDS5024.1			1	
RYR1	0	LGGM	GRCh37	19	38993555	38993555	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	10	7	.	.	ENST00000359596.3:c.7871G>A	p.Arg2624His	p.R2624H	ENST00000359596		2624	cGc/cAc	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		17	2.69		HGNC	p.R2624H		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,38993555,G,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		R/H		A	medium	7871/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=2566&re=2733&var=R2624H		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Arg2624His,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Arg2624His,ENST00000360985,;RYR1,missense_variant,p.Arg2624His,ENST00000359596,;RYR1,missense_variant,p.Arg442His,ENST00000594335,;							MODERATE	7871/15117	R2624H	RYR1_HUMAN			Transcript		benign(0.34)	.	ENSP00000352608		CCDS33011.1			1	
ATP4A	0	LGGM	GRCh37	19	36041955	36041955	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	7	7	.	.	ENST00000262623.3:c.2944T>C	p.Tyr982His	p.Y982H	ENST00000262623	NM_000704.2	982	Tac/Cac	0	1	1	UPI000016A49B	0	getma.org/pdb.php?prot=ATP4A_HUMAN&from=810&to=1020&var=Y982H	ENST00000262623		ENSG00000105675	819		14	2.905		HGNC	p.Y982H		ATP4A		SNV							ENST00000262623	protein_coding	getma.org/?cm=var&var=hg19,19,36041955,A,G&fts=all		Prints_domain:PR00121,Superfamily_domains:0049473,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00689,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251,Transmembrane_helices:TMhelix		Y/H		G	medium	2973/3709		getma.org/?cm=msa&ty=f&p=ATP4A_HUMAN&rb=810&re=1020&var=Y982H	deleterious(0.04)				YES	ATP4A,missense_variant,p.Tyr982His,ENST00000262623,NM_000704.2;TMEM147,downstream_gene_variant,,ENST00000392204,NM_001242597.1;TMEM147,downstream_gene_variant,,ENST00000222284,NM_032635.3;TMEM147,downstream_gene_variant,,ENST00000392205,;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,;TMEM147,downstream_gene_variant,,ENST00000595467,;TMEM147,downstream_gene_variant,,ENST00000599895,;TMEM147,downstream_gene_variant,,ENST00000477168,;TMEM147,downstream_gene_variant,,ENST00000593027,NM_001242598.1;ATP4A,downstream_gene_variant,,ENST00000592767,;TMEM147,downstream_gene_variant,,ENST00000596232,;TMEM147,downstream_gene_variant,,ENST00000595180,;							MODERATE	2944/3108	Y982H	ATP4A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262623		CCDS12467.1			1	
C2CD3	0	LGGM	GRCh37	11	73804896	73804896	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	20	8	.	.	ENST00000313663.7:c.3309G>T	p.Val1103=	p.V1103=	ENST00000313663	NM_015531.4	1103	gtG/gtT	0	1		UPI0001AE6C29	0		ENST00000334126		ENSG00000168014	24564		28			HGNC	p.V1103V		C2CD3		SNV			1				ENST00000334126	protein_coding			hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,SMART_domains:SM00239		V		A		3536/7289								C2CD3,synonymous_variant,p.=,ENST00000334126,NM_001286577.1;C2CD3,synonymous_variant,p.=,ENST00000313663,NM_015531.4;C2CD3,upstream_gene_variant,,ENST00000414160,;C2CD3,upstream_gene_variant,,ENST00000540057,;							LOW	3309/7062		C2CD3_HUMAN			Transcript			.	ENSP00000334379		CCDS66167.1			1	
FDX1L	0	LGGM	GRCh37	19	10421172	10421172	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	11	9	.	.	ENST00000393708.3:c.542A>T	p.Lys181Met	p.K181M	ENST00000393708	NM_001031734.2	181	aAg/aTg	0	1	1	UPI0000227E29	0	getma.org/pdb.php?prot=ADXL_HUMAN&from=157&to=183&var=K181M	ENST00000393708		ENSG00000267673	30546		20	2.9		HGNC	p.Q60H		FDX1L		SNV							ENST00000493771	protein_coding	getma.org/?cm=var&var=hg19,19,10421172,T,A&fts=all		hmmpanther:PTHR23426:SF1,hmmpanther:PTHR23426		K/M		A	medium	561/1012		getma.org/?cm=msa&ty=f&p=ADXL_HUMAN&rb=127&re=183&var=K181M	deleterious(0)				YES	FDX1L,missense_variant,p.Lys181Met,ENST00000393708,NM_001031734.2;FDX1L,missense_variant,p.Lys46Met,ENST00000494368,;FDX1L,3_prime_UTR_variant,,ENST00000541276,;ZGLP1,upstream_gene_variant,,ENST00000403903,NM_001103167.1;ZGLP1,upstream_gene_variant,,ENST00000403352,;FDX1L,non_coding_transcript_exon_variant,,ENST00000492239,;CTD-2369P2.10,3_prime_UTR_variant,,ENST00000452032,;CTD-2369P2.10,non_coding_transcript_exon_variant,,ENST00000493771,;FDX1L,non_coding_transcript_exon_variant,,ENST00000460631,;FDX1L,non_coding_transcript_exon_variant,,ENST00000343376,;CTD-2369P2.12,downstream_gene_variant,,ENST00000586529,;FDX1L,downstream_gene_variant,,ENST00000453681,;ZGLP1,upstream_gene_variant,,ENST00000480726,;FDX1L,downstream_gene_variant,,ENST00000486454,;							MODERATE	542/552	K181M	ADXL_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000377311		CCDS32905.1			1	
UBE2N	0	LGGM	GRCh37	12	93803831	93803831	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	24	9	.	.	ENST00000318066.2:c.443C>T	p.Ala148Val	p.A148V	ENST00000318066	NM_003348.3	148	gCc/gTc	0	1	1	UPI0000003EA3	0	getma.org/pdb.php?prot=UBE2N_HUMAN&from=145&to=152&var=A148V	ENST00000318066		ENSG00000177889	12492		33	3.58		HGNC	p.A148V		UBE2N		SNV							ENST00000318066	protein_coding	getma.org/?cm=var&var=hg19,12,93803831,G,A&fts=all		hmmpanther:PTHR24067,hmmpanther:PTHR24067:SF79,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495		A/V		A	high	821/3671		getma.org/?cm=msa&ty=f&p=UBE2N_HUMAN&rb=115&re=152&var=A148V	deleterious(0)	F8VQQ8_HUMAN			YES	UBE2N,missense_variant,p.Ala148Val,ENST00000318066,NM_003348.3;UBE2N,missense_variant,p.Ala85Val,ENST00000549833,;UBE2N,missense_variant,p.Ala101Val,ENST00000552442,;UBE2N,3_prime_UTR_variant,,ENST00000550657,;UBE2N,upstream_gene_variant,,ENST00000548946,;UBE2N,3_prime_UTR_variant,,ENST00000549490,;							MODERATE	443/459	A148V	UBE2N_HUMAN			Transcript		possibly_damaging(0.66)	.	ENSP00000316176		CCDS31875.1			1	
THSD7B	0	LGGM	GRCh37	2	137814072	137814072	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	0	10	.	.	ENST00000272643.3:c.222G>C	p.Trp74Cys	p.W74C	ENST00000272643		74	tgG/tgC	0	1	1	UPI00015E0A18	0	NA	ENST00000272643		ENSG00000144229	29348		10	1.665		HGNC	p.W43C		THSD7B		SNV							ENST00000413152	protein_coding	getma.org/?cm=var&var=hg19,2,137814072,G,C&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7,SMART_domains:SM00209		W/C		C	low	222/5942		getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=40&re=98&var=W74C	deleterious(0)				YES	THSD7B,missense_variant,p.Trp74Cys,ENST00000409968,;THSD7B,missense_variant,p.Trp74Cys,ENST00000272643,;THSD7B,missense_variant,p.Trp43Cys,ENST00000413152,NM_001080427.1;THSD7B,upstream_gene_variant,,ENST00000543459,;THSD7B,3_prime_UTR_variant,,ENST00000472720,;							MODERATE	222/4830	W74C	THS7B_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000272643					1	
TPRG1	0	LGGM	GRCh37	3	188925164	188925164	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	21	11	.	.	ENST00000345063.3:c.-9-1G>T		p.X3_splice	ENST00000345063	NM_198485.3			0	1	1	UPI00001C08BF	0		ENST00000345063		ENSG00000188001	24759		32			HGNC	-		TPRG1		SNV							-	protein_coding							T		-/5479				C9JDW1_HUMAN			YES	TPRG1,splice_acceptor_variant,,ENST00000345063,NM_198485.3;TPRG1,splice_acceptor_variant,,ENST00000433971,;TPRG1,splice_acceptor_variant,,ENST00000412373,;TPRG1,5_prime_UTR_variant,,ENST00000456832,;TPRG1,splice_acceptor_variant,,ENST00000460613,;TPRG1,upstream_gene_variant,,ENST00000493725,;							HIGH	-/828		TPRG1_HUMAN			Transcript			.	ENSP00000341031		CCDS3292.1			1	
KIF21B	0	LGGM	GRCh37	1	200969639	200969639	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	18	11	.	.	ENST00000422435.2:c.1564G>C	p.Ala522Pro	p.A522P	ENST00000422435	NM_001252100.1	522	Gcc/Ccc	0	1	1	UPI0000153E7C	0	NA	ENST00000422435		ENSG00000116852	29442		29	1.845		HGNC	p.A522P		KIF21B		SNV							ENST00000461742	protein_coding	getma.org/?cm=var&var=hg19,1,200969639,C,G&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF335,Low_complexity_(Seg):seg		A/P		G	low	1881/5519		getma.org/?cm=msa&ty=f&p=KI21B_HUMAN&rb=475&re=714&var=A522P	tolerated(0.1)				YES	KIF21B,missense_variant,p.Ala522Pro,ENST00000332129,NM_001252103.1,NM_001252102.1,NM_017596.3;KIF21B,missense_variant,p.Ala522Pro,ENST00000422435,NM_001252100.1;KIF21B,missense_variant,p.Ala522Pro,ENST00000461742,;KIF21B,missense_variant,p.Ala522Pro,ENST00000360529,;KIF21B,downstream_gene_variant,,ENST00000534043,;							MODERATE	1564/4914	A522P	KI21B_HUMAN			Transcript		benign(0.063)	.	ENSP00000411831		CCDS58056.1			1	
PCDHGB7	0	LGGM	GRCh37	5	140799074	140799074	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	24	11	.	.	ENST00000398594.2:c.1648G>C	p.Val550Leu	p.V550L	ENST00000398594	NM_018927.3	550	Gtg/Ctg	0	1	1	UPI000007141F	0	getma.org/pdb.php?prot=PCDGJ_HUMAN&from=457&to=553&var=V550L	ENST00000398594		ENSG00000254122	8714		35	1.31		HGNC	p.V550L		PCDHGB7		SNV							ENST00000398594	protein_coding	getma.org/?cm=var&var=hg19,5,140799074,G,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/L		C	low	1648/4596		getma.org/?cm=msa&ty=f&p=PCDGJ_HUMAN&rb=457&re=553&var=V550L	tolerated(0.3)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB7,missense_variant,p.Val550Leu,ENST00000398594,NM_018927.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;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;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;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,upstream_gene_variant,,ENST00000518882,;							MODERATE	1648/2790	V550L	PCDGJ_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000381594		CCDS47293.1			1	
VAV1	0	LGGM	GRCh37	19	6832126	6832126	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	14	12	.	.	ENST00000602142.1:c.1423G>T	p.Glu475Ter	p.E475*	ENST00000602142	NM_005428.3	475	Gag/Tag	0	1	1	UPI0000138213	0	NA	ENST00000602142		ENSG00000141968	12657		26	0		HGNC	p.E475X		VAV1		SNV							ENST00000304076	protein_coding	getma.org/?cm=var&var=hg19,19,6832126,G,T&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF112,SMART_domains:SM00233,Superfamily_domains:SSF50729		E/*		T	NA	1505/2620		NA					YES	VAV1,stop_gained,p.Glu475Ter,ENST00000304076,NM_001258206.1;VAV1,stop_gained,p.Glu443Ter,ENST00000596764,NM_001258207.1;VAV1,stop_gained,p.Glu420Ter,ENST00000599806,;VAV1,stop_gained,p.Glu475Ter,ENST00000602142,NM_005428.3;VAV1,stop_gained,p.Glu378Ter,ENST00000539284,;VAV1,non_coding_transcript_exon_variant,,ENST00000601452,;VAV1,non_coding_transcript_exon_variant,,ENST00000600396,;VAV1,non_coding_transcript_exon_variant,,ENST00000597967,;VAV1,upstream_gene_variant,,ENST00000598270,;							HIGH	1423/2538	E475*	VAV_HUMAN			Transcript			.	ENSP00000472929		CCDS12174.1			1	
FAM120B	0	LGGM	GRCh37	6	170657255	170657255	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	24	12	.	.	ENST00000476287.1:c.2034G>C	p.Leu678Phe	p.L678F	ENST00000476287	NM_032448.1	678	ttG/ttC	0	1	1	UPI000006DC13	0	NA	ENST00000476287		ENSG00000112584	21109		36	2.445		HGNC	p.L690F		FAM120B		SNV							ENST00000540480	protein_coding	getma.org/?cm=var&var=hg19,6,170657255,G,C&fts=all		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF7		L/F		C	medium	2142/5155		getma.org/?cm=msa&ty=f&p=F120B_HUMAN&rb=601&re=800&var=L678F	deleterious(0)	B4DL34_HUMAN			YES	FAM120B,missense_variant,p.Leu678Phe,ENST00000476287,NM_032448.1,NM_001286380.1,NM_001286379.1;FAM120B,missense_variant,p.Leu690Phe,ENST00000540480,;FAM120B,missense_variant,p.Leu701Phe,ENST00000537664,;FAM120B,missense_variant,p.Leu10Phe,ENST00000252510,NM_001286381.1;							MODERATE	2034/2733	L678F	F120B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000417970		CCDS5314.1			1	
EPS8L1	0	LGGM	GRCh37	19	55597328	55597328	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	23	13	.	.	ENST00000201647.6:c.1505G>A	p.Arg502Gln	p.R502Q	ENST00000201647	NM_133180.2	502	cGg/cAg	0	1	1	UPI000013C630	0	getma.org/pdb.php?prot=ES8L1_HUMAN&from=486&to=529&var=R502Q	ENST00000201647		ENSG00000131037	21295		36	0		HGNC	p.R516Q		EPS8L1		SNV							ENST00000586329	protein_coding	getma.org/?cm=var&var=hg19,19,55597328,G,A&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR12287,hmmpanther:PTHR12287:SF19,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044		R/Q		A	neutral	1561/2536		getma.org/?cm=msa&ty=f&p=ES8L1_HUMAN&rb=486&re=529&var=R502Q	tolerated(0.54)	B4DKV7_HUMAN			YES	EPS8L1,missense_variant,p.Arg502Gln,ENST00000201647,NM_133180.2;EPS8L1,missense_variant,p.Arg438Gln,ENST00000540810,;EPS8L1,missense_variant,p.Arg375Gln,ENST00000245618,NM_017729.3;EPS8L1,missense_variant,p.Arg516Gln,ENST00000586329,;EPS8L1,missense_variant,p.Arg188Gln,ENST00000588359,;PPP1R12C,downstream_gene_variant,,ENST00000263433,NM_017607.3,NM_001271618.1;PPP1R12C,downstream_gene_variant,,ENST00000376393,;PPP1R12C,downstream_gene_variant,,ENST00000591938,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000585347,;EPS8L1,downstream_gene_variant,,ENST00000592824,;EPS8L1,upstream_gene_variant,,ENST00000587901,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000592102,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589362,;EPS8L1,non_coding_transcript_exon_variant,,ENST00000589694,;EPS8L1,downstream_gene_variant,,ENST00000587786,;EPS8L1,upstream_gene_variant,,ENST00000587715,;EPS8L1,downstream_gene_variant,,ENST00000592284,;EPS8L1,downstream_gene_variant,,ENST00000590232,;EPS8L1,downstream_gene_variant,,ENST00000590610,;EPS8L1,downstream_gene_variant,,ENST00000592044,;							MODERATE	1505/2172	R502Q	ES8L1_HUMAN			Transcript		benign(0.007)	.	ENSP00000201647		CCDS12914.1			1	
EEF1A1	0	LGGM	GRCh37	6	74228720	74228720	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	25	13	.	.	ENST00000316292.9:c.556G>C	p.Asp186His	p.D186H	ENST00000316292	NM_001402.5	186	Gac/Cac	0	1		UPI00000012CA	0	getma.org/pdb.php?prot=EF1A3_HUMAN&from=5&to=238&var=D186H	ENST00000309268		ENSG00000156508	3189		38	1.64		HGNC	p.D186H		EEF1A1		SNV							ENST00000316292	protein_coding	getma.org/?cm=var&var=hg19,6,74228720,C,G&fts=all		HAMAP:MF_00118_A,hmmpanther:PTHR23115:SF104,hmmpanther:PTHR23115,TIGRFAM_domain:TIGR00483,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540		D/H		G	low	1175/2303		getma.org/?cm=msa&ty=f&p=EF1A3_HUMAN&rb=5&re=238&var=D186H	deleterious_low_confidence(0.02)	Q96EB3_HUMAN,Q96C29_HUMAN,Q8IUB0_HUMAN,Q6P4C9_HUMAN,Q6IQ15_HUMAN,Q6IPS9_HUMAN,Q5JR01_HUMAN,Q504Z0_HUMAN,Q2F837_HUMAN,A6PW80_HUMAN				EEF1A1,missense_variant,p.Asp186His,ENST00000316292,NM_001402.5;EEF1A1,missense_variant,p.Asp186His,ENST00000309268,;EEF1A1,missense_variant,p.Asp186His,ENST00000331523,;EEF1A1,downstream_gene_variant,,ENST00000455918,;EEF1A1,downstream_gene_variant,,ENST00000356303,;RP11-505P4.7,upstream_gene_variant,,ENST00000429386,;RP11-505P4.7,upstream_gene_variant,,ENST00000431108,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000491404,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000490569,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000495333,;EEF1A1,non_coding_transcript_exon_variant,,ENST00000488500,;							MODERATE	556/1389	D186H	EF1A1_HUMAN			Transcript		benign(0.392)	.	ENSP00000339053		CCDS4980.1			1	
GLI3	0	LGGM	GRCh37	7	42079788	42079788	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	44	13	.	.	ENST00000395925.3:c.877A>G	p.Thr293Ala	p.T293A	ENST00000395925	NM_000168.5	293	Aca/Gca	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		57	-0.98		HGNC	p.T293A		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42079788,T,C&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		T/A		C	neutral	962/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=120&re=469&var=T293A	tolerated(1)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Thr293Ala,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							MODERATE	877/4743	T293A	GLI3_HUMAN			Transcript		benign(0.13)	.	ENSP00000379258		CCDS5465.1			1	
TCF20	0	LGGM	GRCh37	22	42609366	42609366	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	32	13	.	.	ENST00000359486.3:c.1946A>G	p.His649Arg	p.H649R	ENST00000359486	NM_005650.2	649	cAt/cGt	0	1	1	UPI00001A95D9	0	NA	ENST00000359486		ENSG00000100207	11631		45	0.55		HGNC	p.H649R		TCF20		SNV							ENST00000359486	protein_coding	getma.org/?cm=var&var=hg19,22,42609366,T,C&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7		H/R		C	neutral	2083/7410		getma.org/?cm=msa&ty=f&p=TCF20_HUMAN&rb=490&re=1239&var=H649R		I3L1M7_HUMAN			YES	TCF20,missense_variant,p.His649Arg,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.His649Arg,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							MODERATE	1946/5883	H649R	TCF20_HUMAN			Transcript		benign(0.027)	.	ENSP00000352463		CCDS14033.1			1	
ARID2	0	LGGM	GRCh37	12	46285819	46285819	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	30	14	.	.	ENST00000334344.6:c.5087T>G	p.Leu1696Arg	p.L1696R	ENST00000334344	NM_152641.2	1696	cTa/cGa	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		44	2.465		HGNC	p.L304R		ARID2		SNV							ENST00000457135	protein_coding	getma.org/?cm=var&var=hg19,12,46285819,T,G&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14		L/R		G	medium	5259/8642		getma.org/?cm=msa&ty=f&p=ARID2_HUMAN&rb=1584&re=1783&var=L1696R	deleterious(0)	Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,missense_variant,p.Leu1696Arg,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Leu1306Arg,ENST00000444670,;ARID2,missense_variant,p.Leu1547Arg,ENST00000422737,;ARID2,missense_variant,p.Leu304Arg,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000477947,;							MODERATE	5087/5508	L1696R	ARID2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000335044		CCDS31783.1			1	
VTN	0	LGGM	GRCh37	17	26696802	26696802	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	17	15	.	.	ENST00000226218.4:c.255C>T	p.Asn85=	p.N85=	ENST00000226218	NM_000638.3	85	aaC/aaT	0	1	1	UPI0000138E65	0		ENST00000226218		ENSG00000109072	12724		32			HGNC	p.N85N		VTN		SNV							ENST00000542029	protein_coding			hmmpanther:PTHR22917,hmmpanther:PTHR22917:SF3		N		A		874/2149				F5GX75_HUMAN,D9ZGG2_HUMAN			YES	VTN,synonymous_variant,p.=,ENST00000226218,NM_000638.3;VTN,synonymous_variant,p.=,ENST00000542029,;VTN,5_prime_UTR_variant,,ENST00000536498,;TMEM199,intron_variant,,ENST00000509083,;SARM1,upstream_gene_variant,,ENST00000457710,NM_015077.3;CTB-96E2.2,upstream_gene_variant,,ENST00000555059,;VTN,upstream_gene_variant,,ENST00000438614,;VTN,upstream_gene_variant,,ENST00000431468,NM_001080837.2;SARM1,intron_variant,,ENST00000379061,;CTB-96E2.3,intron_variant,,ENST00000591482,;VTN,upstream_gene_variant,,ENST00000539746,;							LOW	255/1437		VTNC_HUMAN			Transcript			.	ENSP00000226218		CCDS11229.1			1	
MYSM1	0	LGGM	GRCh37	1	59126850	59126850	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	41	16	.	.	ENST00000472487.1:c.2320T>C	p.Leu774=	p.L774=	ENST00000472487	NM_001085487.2	774	Ttg/Ctg	0	1	1	UPI0000204444	0		ENST00000472487		ENSG00000162601	29401		57			HGNC	p.L774L		MYSM1		SNV							ENST00000472487	protein_coding			hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF3		L		G		2360/7785							YES	MYSM1,synonymous_variant,p.=,ENST00000472487,NM_001085487.2;MYSM1,non_coding_transcript_exon_variant,,ENST00000493821,;MYSM1,non_coding_transcript_exon_variant,,ENST00000401044,;							LOW	2320/2487		MYSM1_HUMAN			Transcript			.	ENSP00000418734		CCDS41343.1			1	
C10orf90	0	LGGM	GRCh37	10	128202470	128202470	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	28	17	.	.	ENST00000284694.7:c.61G>A	p.Ala21Thr	p.A21T	ENST00000284694	NM_001004298.2	21	Gcc/Acc	0	1	1	UPI00001D808F	0	NA	ENST00000284694		ENSG00000154493	26563		45	1.355		HGNC	p.A21T		C10orf90		SNV							ENST00000284694	protein_coding	getma.org/?cm=var&var=hg19,10,128202470,C,T&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF10		A/T		T	low	182/3076		getma.org/?cm=msa&ty=f&p=CJ090_HUMAN&rb=1&re=697&var=A21T	tolerated(0.1)	S4R3N7_HUMAN,Q5T025_HUMAN			YES	C10orf90,missense_variant,p.Ala21Thr,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Ala21Thr,ENST00000454341,;C10orf90,missense_variant,p.Ala118Thr,ENST00000544758,;C10orf90,missense_variant,p.Ala21Thr,ENST00000432642,;C10orf90,5_prime_UTR_variant,,ENST00000356858,;C10orf90,5_prime_UTR_variant,,ENST00000392694,;C10orf90,5_prime_UTR_variant,,ENST00000488181,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,missense_variant,p.Ala21Thr,ENST00000463082,;							MODERATE	61/2100	A21T	CJ090_HUMAN			Transcript		benign(0.086)	.	ENSP00000284694		CCDS31310.1			1	
COG6	0	LGGM	GRCh37	13	40233520	40233520	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	7	17	.	.	ENST00000455146.3:c.173A>C	p.Lys58Thr	p.K58T	ENST00000455146	NM_020751.2	58	aAg/aCg	0	1	1	UPI000019271E	0	NA	ENST00000455146		ENSG00000133103	18621		24	1.455		HGNC	p.K58T		COG6		SNV			1				ENST00000416691	protein_coding	getma.org/?cm=var&var=hg19,13,40233520,A,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06419,hmmpanther:PTHR21506,SMART_domains:SM01087		K/T		C	low	223/3563		getma.org/?cm=msa&ty=f&p=COG6_HUMAN&rb=55&re=656&var=K58T	tolerated(0.06)	B4DG73_HUMAN			YES	COG6,missense_variant,p.Lys58Thr,ENST00000416691,NM_001145079.1;COG6,missense_variant,p.Lys58Thr,ENST00000455146,NM_020751.2;COG6,missense_variant,p.Lys58Thr,ENST00000422759,;MIR4305,downstream_gene_variant,,ENST00000583252,;COG6,3_prime_UTR_variant,,ENST00000356576,;COG6,3_prime_UTR_variant,,ENST00000543790,;COG6,3_prime_UTR_variant,,ENST00000542266,;COG6,intron_variant,,ENST00000543804,;COG6,upstream_gene_variant,,ENST00000536488,;							MODERATE	173/1974	K58T	COG6_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000397441		CCDS9370.1			1	
CDH18	0	LGGM	GRCh37	5	19483478	19483478	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	33	17	.	.	ENST00000507958.1:c.1814T>A	p.Phe605Tyr	p.F605Y	ENST00000507958		605	tTc/tAc	0	1		UPI0000126DBD	0	NA	ENST00000274170		ENSG00000145526	1757		50	-0.3		HGNC	p.S570T		CDH18		SNV							ENST00000506372	protein_coding	getma.org/?cm=var&var=hg19,5,19483478,A,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027		F/Y		T	neutral	2326/2885		getma.org/?cm=msa&ty=f&p=CAD18_HUMAN&rb=487&re=608&var=F605Y	tolerated(1)					CDH18,missense_variant,p.Phe605Tyr,ENST00000507958,;CDH18,missense_variant,p.Phe605Tyr,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,missense_variant,p.Phe605Tyr,ENST00000274170,;CDH18,missense_variant,p.Ser570Thr,ENST00000506372,;CDH18,missense_variant,p.Ser569Thr,ENST00000502796,;CDH18,missense_variant,p.Ser436Thr,ENST00000515257,;CDH18,upstream_gene_variant,,ENST00000510297,;							MODERATE	1814/2373	F605Y	CAD18_HUMAN			Transcript		benign(0.175)	.	ENSP00000274170		CCDS3889.1			1	
ARID2	0	LGGM	GRCh37	12	46285815	46285815	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	30	17	.	.	ENST00000334344.6:c.5083G>A	p.Ala1695Thr	p.A1695T	ENST00000334344	NM_152641.2	1695	Gcc/Acc	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		47	1.7		HGNC	p.A303T		ARID2		SNV							ENST00000457135	protein_coding	getma.org/?cm=var&var=hg19,12,46285815,G,A&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14		A/T		A	low	5255/8642		getma.org/?cm=msa&ty=f&p=ARID2_HUMAN&rb=1584&re=1783&var=A1695T	tolerated(0.18)	Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,missense_variant,p.Ala1695Thr,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Ala1305Thr,ENST00000444670,;ARID2,missense_variant,p.Ala1546Thr,ENST00000422737,;ARID2,missense_variant,p.Ala303Thr,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;ARID2,upstream_gene_variant,,ENST00000477947,;							MODERATE	5083/5508	A1695T	ARID2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000335044		CCDS31783.1			1	
EDN3	0	LGGM	GRCh37	20	57876663	57876663	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	26	17	.	.	ENST00000337938.2:c.251C>T	p.Ala84Val	p.A84V	ENST00000337938	NM_207034.1	84	gCg/gTg	0	1	1	UPI000012A221	0	NA	ENST00000337938		ENSG00000124205	3178		43	1.32		HGNC	p.A84V	rs142051051	EDN3		SNV	A:0.0005		1				ENST00000337938	protein_coding	getma.org/?cm=var&var=hg19,20,57876663,C,T&fts=all	A:0.0008	hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF6		A/V	A:0	T	low	637/2636	1.51E-05	getma.org/?cm=msa&ty=f&p=EDN3_HUMAN&rb=1&re=92&var=A84V	tolerated(0.31)	Q6LDQ8_HUMAN	A:0	A:0	YES	EDN3,missense_variant,p.Ala84Val,ENST00000311585,NM_207032.1;EDN3,missense_variant,p.Ala84Val,ENST00000337938,NM_207034.1;EDN3,missense_variant,p.Ala84Val,ENST00000371028,NM_000114.2;EDN3,missense_variant,p.Ala84Val,ENST00000395654,NM_207033.1;EDN3,missense_variant,p.Ala84Val,ENST00000371025,;	0.000348	A:0.0002					MODERATE	251/717	A84V	EDN3_HUMAN		A:0	Transcript		benign(0.001)	.	ENSP00000337128	3.29E-05	CCDS13477.1		A:0	1	
COL5A3	0	LGGM	GRCh37	19	10078703	10078703	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	25	18	.	.	ENST00000264828.3:c.4367C>T	p.Ala1456Val	p.A1456V	ENST00000264828	NM_015719.3	1456	gCg/gTg	0	1	1	UPI00002032A3	0	NA	ENST00000264828		ENSG00000080573	14864	0.000779	43	1.02		HGNC	p.A1456V	rs199586807	COL5A3	6.32E-05	SNV							ENST00000264828	protein_coding	getma.org/?cm=var&var=hg19,19,10078703,G,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400		A/V		A	low	4453/6174	1.52E-05	getma.org/?cm=msa&ty=f&p=CO5A3_HUMAN&rb=1430&re=1492&var=A1456V					YES	COL5A3,missense_variant,p.Ala1456Val,ENST00000264828,NM_015719.3;COL5A3,non_coding_transcript_exon_variant,,ENST00000461214,;							MODERATE	4367/5238	A1456V	CO5A3_HUMAN			Transcript		unknown(0)	common_variant	ENSP00000264828	9.06E-05	CCDS12222.1			1	
TMCC3	0	LGGM	GRCh37	12	94976245	94976245	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	46	18	.	.	ENST00000261226.4:c.148C>G	p.Leu50Val	p.L50V	ENST00000261226	NM_020698.2	50	Ctc/Gtc	0	1	1	UPI00001FB2DD	0	NA	ENST00000261226		ENSG00000057704	29199		64	0.805		HGNC	p.L19V		TMCC3		SNV							ENST00000548918	protein_coding	getma.org/?cm=var&var=hg19,12,94976245,G,C&fts=all		hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8		L/V		C	low	280/5877		getma.org/?cm=msa&ty=f&p=TMCC3_HUMAN&rb=1&re=62&var=L50V	tolerated(0.19)	G3V207_HUMAN,F8VQF2_HUMAN			YES	TMCC3,missense_variant,p.Leu50Val,ENST00000261226,NM_020698.2;TMCC3,missense_variant,p.Leu19Val,ENST00000551457,;TMCC3,missense_variant,p.Leu19Val,ENST00000548918,;							MODERATE	148/1434	L50V	TMCC3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000261226		CCDS31877.1			1	
GRHL3	0	LGGM	GRCh37	1	24669398	24669398	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	34	19	.	.	ENST00000350501.5:c.1302G>A	p.Leu434=	p.L434=	ENST00000350501	NM_198174.2	434	ctG/ctA	0	1	1	UPI000049DC7B	0		ENST00000350501		ENSG00000158055	25839		53			HGNC	p.L388L	rs773759684	GRHL3		SNV			1				ENST00000356046	protein_coding			hmmpanther:PTHR11037:SF6,hmmpanther:PTHR11037		L		A		1429/2119	1.50E-05			E9PLT6_HUMAN			YES	GRHL3,synonymous_variant,p.=,ENST00000361548,NM_198173.2;GRHL3,synonymous_variant,p.=,ENST00000356046,NM_001195010.1;GRHL3,synonymous_variant,p.=,ENST00000342072,;GRHL3,synonymous_variant,p.=,ENST00000350501,NM_198174.2;GRHL3,synonymous_variant,p.=,ENST00000236255,NM_021180.3;GRHL3,3_prime_UTR_variant,,ENST00000528064,;GRHL3,non_coding_transcript_exon_variant,,ENST00000461318,;GRHL3,downstream_gene_variant,,ENST00000528181,;							LOW	1302/1881		GRHL3_HUMAN			Transcript			.	ENSP00000288955	8.24E-06	CCDS252.2			1	
HTT	0	LGGM	GRCh37	4	3127321	3127321	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	41	19	.	.	ENST00000355072.5:c.1367A>C	p.Glu456Ala	p.E456A	ENST00000355072	NM_002111.6	456	gAa/gCa	0	1	1	UPI000013D567	0	NA	ENST00000355072		ENSG00000197386	4851		60	1.15		HGNC	p.E456A		HTT		SNV			1				ENST00000355072	protein_coding	getma.org/?cm=var&var=hg19,4,3127321,A,C&fts=all		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10,Low_complexity_(Seg):seg		E/A		C	low	1512/13464		getma.org/?cm=msa&ty=f&p=HD_HUMAN&rb=415&re=614&var=E456A		D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,missense_variant,p.Glu456Ala,ENST00000355072,NM_002111.6;HTT,upstream_gene_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000506137,;HTT,downstream_gene_variant,,ENST00000512909,;							MODERATE	1367/9429	E456A	HD_HUMAN			Transcript		benign(0.012)	.	ENSP00000347184		CCDS43206.1			1	
WDFY3	0	LGGM	GRCh37	4	85660239	85660239	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	35	19	.	.	ENST00000295888.4:c.6498C>A	p.Ala2166=	p.A2166=	ENST00000295888	NM_014991.4	2166	gcC/gcA	0	1	1	UPI000013E2C7	0		ENST00000295888		ENSG00000163625	20751	8.65E-05	54			HGNC	p.A2166A	rs754133328	WDFY3		SNV							ENST00000295888	protein_coding			hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		A		T		6906/14247				D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,synonymous_variant,p.=,ENST00000322366,;WDFY3,synonymous_variant,p.=,ENST00000295888,NM_014991.4;WDFY3,non_coding_transcript_exon_variant,,ENST00000504839,;							LOW	6498/10581		WDFY3_HUMAN			Transcript			.	ENSP00000295888	8.24E-06	CCDS3609.1			1	
HRH1	0	LGGM	GRCh37	3	11301528	11301528	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	19	19	.	.	ENST00000397056.1:c.805G>A	p.Gly269Ser	p.G269S	ENST00000397056	NM_000861.3	269	Ggt/Agt	0	1	1	UPI0000050401	0	getma.org/pdb.php?prot=HRH1_HUMAN&from=44&to=468&var=G269S	ENST00000397056		ENSG00000196639	5182		38	1.505		HGNC	p.G269S		HRH1		SNV							ENST00000431010	protein_coding	getma.org/?cm=var&var=hg19,3,11301528,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF244,Pfam_domain:PF00001		G/S		A	low	996/4711		getma.org/?cm=msa&ty=f&p=HRH1_HUMAN&rb=44&re=468&var=G269S	tolerated(0.9)				YES	HRH1,missense_variant,p.Gly269Ser,ENST00000397056,NM_000861.3,NM_001098211.1;HRH1,missense_variant,p.Gly269Ser,ENST00000431010,NM_001098212.1,NM_001098213.1;HRH1,missense_variant,p.Gly269Ser,ENST00000438284,;HRH1,downstream_gene_variant,,ENST00000413416,;							MODERATE	805/1464	G269S	HRH1_HUMAN			Transcript		benign(0.077)	.	ENSP00000380247		CCDS2604.1			1	
OTX2	0	LGGM	GRCh37	14	57268497	57268497	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	38	20	.	.	ENST00000339475.5:c.850G>A	p.Asp284Asn	p.D284N	ENST00000339475	NM_001270524.1	284	Gat/Aat	0	1		UPI0000130F39	0	NA	ENST00000408990		ENSG00000165588	8522		58	2.97		HGNC	p.D276N		OTX2		SNV			1				ENST00000408990	protein_coding	getma.org/?cm=var&var=hg19,14,57268497,C,T&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF131		D/N		T	medium	1033/1082		getma.org/?cm=msa&ty=f&p=OTX2_HUMAN&rb=236&re=289&var=D276N	deleterious(0)	G3V3J3_HUMAN,F1T0D0_HUMAN				OTX2,missense_variant,p.Asp284Asn,ENST00000339475,NM_001270524.1,NM_021728.3,NM_001270523.1,NM_001270525.1;OTX2,missense_variant,p.Asp276Asn,ENST00000555006,;OTX2,missense_variant,p.Asp276Asn,ENST00000408990,;OTX2,downstream_gene_variant,,ENST00000554845,;OTX2,downstream_gene_variant,,ENST00000554788,;OTX2,downstream_gene_variant,,ENST00000555804,;OTX2,downstream_gene_variant,,ENST00000554559,;RP11-1085N6.6,upstream_gene_variant,,ENST00000602485,;							MODERATE	826/870	D276N	OTX2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000386185		CCDS41960.1			1	
ANO5	0	LGGM	GRCh37	11	22249015	22249015	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	58	21	.	.	ENST00000324559.8:c.531G>T	p.Leu177=	p.L177=	ENST00000324559	NM_001142649.1	177	ctG/ctT	0	1	1	UPI000035B19B	0		ENST00000324559		ENSG00000171714	27337		79			HGNC	p.L177L		ANO5		SNV			1				ENST00000324559	protein_coding			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23		L		T		848/6651							YES	ANO5,synonymous_variant,p.=,ENST00000324559,NM_001142649.1,NM_213599.2;							LOW	531/2742		ANO5_HUMAN			Transcript			.	ENSP00000315371		CCDS31444.1			1	
ZNF250	0	LGGM	GRCh37	8	146106971	146106971	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	34	21	.	.	ENST00000292579.7:c.1612G>A	p.Gly538Arg	p.G538R	ENST00000292579	NM_021061.4	538	Ggg/Agg	0	1	1	UPI0000197F51	0	getma.org/pdb.php?prot=ZN250_HUMAN&from=521&to=546&var=G538R	ENST00000292579		ENSG00000196150	13044		55	-0.445		HGNC	p.G533R	rs374796462	ZNF250		SNV	T:0						ENST00000417550	protein_coding	getma.org/?cm=var&var=hg19,8,146106971,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF112,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/R	T:0.0001	T	neutral	1729/6364	3.08E-05	getma.org/?cm=msa&ty=f&p=ZN250_HUMAN&rb=501&re=560&var=G538R	tolerated(0.29)				YES	ZNF250,missense_variant,p.Gly538Arg,ENST00000292579,NM_021061.4,NM_001109689.3;ZNF250,missense_variant,p.Gly533Arg,ENST00000417550,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000533543,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;	0.000118						MODERATE	1612/1683	G538R	ZN250_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000292579	2.47E-05	CCDS34972.1			1	
PPEF2	0	LGGM	GRCh37	4	76793192	76793192	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	35	21	.	.	ENST00000286719.7:c.1635C>T	p.Leu545=	p.L545=	ENST00000286719	NM_006239.2	545	ctC/ctT	0	1	1	UPI0000163923	0		ENST00000286719		ENSG00000156194	9244		56			HGNC	p.L545L		PPEF2		SNV							ENST00000286719	protein_coding			Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214		L		A		1992/3414				E7EPQ9_HUMAN			YES	PPEF2,synonymous_variant,p.=,ENST00000286719,NM_006239.2;PPEF2,3_prime_UTR_variant,,ENST00000511880,;							LOW	1635/2262		PPE2_HUMAN			Transcript			.	ENSP00000286719		CCDS34013.1			1	
GPR52	0	LGGM	GRCh37	1	174417260	174417260	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	26	22	.	.	ENST00000367685.2:c.11C>A	p.Ser4Tyr	p.S4Y	ENST00000367685	NM_005684.4	4	tCc/tAc	0	1	1	UPI0000153A3C	0	NA	ENST00000367685		ENSG00000203737	4508		48	0.345		HGNC	p.S4Y		GPR52		SNV							ENST00000367685	protein_coding	getma.org/?cm=var&var=hg19,1,174417260,C,A&fts=all		hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248		S/Y		A	neutral	49/1472		getma.org/?cm=msa&ty=f&p=GPR52_HUMAN&rb=1&re=56&var=S4Y	deleterious_low_confidence(0.03)	F2YGU0_HUMAN			YES	GPR52,missense_variant,p.Ser4Tyr,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,;							MODERATE	11/1086	S4Y	GPR52_HUMAN			Transcript		benign(0.125)	.	ENSP00000356658		CCDS30941.1			1	
TGS1	0	LGGM	GRCh37	8	56711553	56711553	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	32	22	.	.	ENST00000260129.5:c.1623C>T	p.His541=	p.H541=	ENST00000260129	NM_024831.6	541	caC/caT	0	1	1	UPI0000DBEF24	0		ENST00000260129		ENSG00000137574	17843		54			HGNC	p.H541H	rs764497961	TGS1	6.06E-05	SNV							ENST00000260129	protein_coding			hmmpanther:PTHR14741,hmmpanther:PTHR14741:SF32		H		T		2100/3782							YES	TGS1,synonymous_variant,p.=,ENST00000260129,NM_024831.6;TGS1,3_prime_UTR_variant,,ENST00000523948,;TGS1,non_coding_transcript_exon_variant,,ENST00000519494,;							LOW	1623/2562		TGS1_HUMAN			Transcript			.	ENSP00000260129	8.24E-06	CCDS34894.1			1	
ME1	0	LGGM	GRCh37	6	83933499	83933499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	34	22	.	.	ENST00000369705.3:c.1429A>G	p.Ile477Val	p.I477V	ENST00000369705	NM_002395.4	477	Att/Gtt	0	1	1	UPI000000127E	0	getma.org/pdb.php?prot=MAOX_HUMAN&from=270&to=522&var=I477V	ENST00000369705		ENSG00000065833	6983		56	0.015		HGNC	p.I311V		ME1		SNV							ENST00000541327	protein_coding	getma.org/?cm=var&var=hg19,6,83933499,T,C&fts=all		hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Pfam_domain:PF03949,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000106,SMART_domains:SM00919,Superfamily_domains:SSF51735		I/V		C	neutral	1546/3371		getma.org/?cm=msa&ty=f&p=MAOX_HUMAN&rb=270&re=522&var=I477V	tolerated(0.75)	F5H4W0_HUMAN,B4DZ70_HUMAN			YES	ME1,missense_variant,p.Ile477Val,ENST00000369705,NM_002395.4;ME1,missense_variant,p.Ile402Val,ENST00000543031,;ME1,missense_variant,p.Ile311Val,ENST00000541327,;							MODERATE	1429/1719	I477V	MAOX_HUMAN			Transcript		benign(0.002)	.	ENSP00000358719		CCDS34492.1			1	
SLC26A4	0	LGGM	GRCh37	7	107350564	107350564	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	24	23	.	.	ENST00000265715.3:c.2155T>C	p.Phe719Leu	p.F719L	ENST00000265715	NM_000441.1	719	Ttt/Ctt	0	1	1	UPI00001315A4	0	getma.org/pdb.php?prot=S26A4_HUMAN&from=536&to=725&var=F719L	ENST00000265715		ENSG00000091137	8818		47	2.92		HGNC	p.F280L		SLC26A4		SNV			1				ENST00000541474	protein_coding	getma.org/?cm=var&var=hg19,7,107350564,T,C&fts=all		Gene3D:3.30.750.24,Pfam_domain:PF01740,PROSITE_profiles:PS50801,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF33,Superfamily_domains:SSF52091,TIGRFAM_domain:TIGR00815		F/L		C	medium	2379/4930		getma.org/?cm=msa&ty=f&p=S26A4_HUMAN&rb=536&re=725&var=F719L	deleterious(0)	Q75MC7_HUMAN,C9JQG1_HUMAN,B7Z266_HUMAN			YES	SLC26A4,missense_variant,p.Phe719Leu,ENST00000265715,NM_000441.1;SLC26A4,missense_variant,p.Phe288Leu,ENST00000543100,;SLC26A4,missense_variant,p.Phe280Leu,ENST00000541474,;SLC26A4,missense_variant,p.Phe306Leu,ENST00000544569,;SLC26A4,intron_variant,,ENST00000492030,;							MODERATE	2155/2343	F719L	S26A4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265715		CCDS5746.1			1	
ANKFN1	0	LGGM	GRCh37	17	54554878	54554878	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	34	23	.	.	ENST00000318698.2:c.1812T>A	p.His604Gln	p.H604Q	ENST00000318698	NM_153228.2	604	caT/caA	0	1	1	UPI000049DE57	0	NA	ENST00000318698		ENSG00000153930	26766		57	-1.04		HGNC	p.H604Q		ANKFN1		SNV							ENST00000566473	protein_coding	getma.org/?cm=var&var=hg19,17,54554878,T,A&fts=all		hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437		H/Q		A	neutral	1847/2426		getma.org/?cm=msa&ty=f&p=ANKF1_HUMAN&rb=560&re=759&var=H604Q	tolerated(0.66)				YES	ANKFN1,missense_variant,p.His604Gln,ENST00000566473,;ANKFN1,missense_variant,p.His604Gln,ENST00000318698,NM_153228.2;							MODERATE	1812/2292	H604Q	ANKF1_HUMAN			Transcript		benign(0)	.	ENSP00000321627		CCDS32686.1			1	
ZNF304	0	LGGM	GRCh37	19	57868744	57868744	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	35	23	.	.	ENST00000391705.3:c.1507T>G	p.Tyr503Asp	p.Y503D	ENST00000391705	NM_020657.2	503	Tat/Gat	0	1		UPI000013CAB8	0	getma.org/pdb.php?prot=ZN304_HUMAN&from=489&to=514&var=Y503D	ENST00000282286		ENSG00000131845	13505		58	3.685		HGNC	p.Y503D		ZNF304		SNV							ENST00000282286	protein_coding	getma.org/?cm=var&var=hg19,19,57868744,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/D		G	high	1680/4202		getma.org/?cm=msa&ty=f&p=ZN304_HUMAN&rb=469&re=534&var=Y503D	deleterious(0)	M0QZ59_HUMAN				ZNF304,missense_variant,p.Tyr503Asp,ENST00000391705,NM_020657.2;ZNF304,missense_variant,p.Tyr503Asp,ENST00000282286,;ZNF304,missense_variant,p.Tyr550Asp,ENST00000443917,;ZNF304,missense_variant,p.Tyr461Asp,ENST00000598744,;							MODERATE	1507/1980	Y503D	ZN304_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000282286		CCDS12950.1			1	
BAG4	0	LGGM	GRCh37	8	38067688	38067688	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	7	24	.	.	ENST00000287322.4:c.1051G>T	p.Ala351Ser	p.A351S	ENST00000287322	NM_004874.3	351	Gcc/Tcc	0	1	1	UPI0000126769	0	NA	ENST00000287322		ENSG00000156735	940		31	0.145		HGNC	p.A315S		BAG4		SNV							ENST00000432471	protein_coding	getma.org/?cm=var&var=hg19,8,38067688,G,T&fts=all		hmmpanther:PTHR12329:SF10,hmmpanther:PTHR12329		A/S		T	neutral	1322/4453		getma.org/?cm=msa&ty=f&p=BAG4_HUMAN&rb=201&re=381&var=A351S	tolerated(0.26)				YES	BAG4,missense_variant,p.Ala351Ser,ENST00000287322,NM_004874.3;BAG4,missense_variant,p.Ala315Ser,ENST00000432471,NM_001204878.1;BAG4,downstream_gene_variant,,ENST00000521311,;BAG4,downstream_gene_variant,,ENST00000521282,;							MODERATE	1051/1374	A351S	BAG4_HUMAN			Transcript		benign(0.009)	.	ENSP00000287322		CCDS6104.1			1	
HCRTR2	0	LGGM	GRCh37	6	55039577	55039577	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	17	24	.	.	ENST00000370862.3:c.192G>T	p.Val64=	p.V64=	ENST00000370862	NM_001526.3	64	gtG/gtT	0	1	1	UPI000013D07A	0		ENST00000370862		ENSG00000137252	4849		41			HGNC	p.V64V		HCRTR2		SNV							ENST00000370862	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		T		528/1837				S4X0W3_HUMAN,A6N9G8_HUMAN			YES	HCRTR2,synonymous_variant,p.=,ENST00000370862,NM_001526.3;							LOW	192/1335		OX2R_HUMAN			Transcript			.	ENSP00000359899		CCDS4956.1			1	
DHX34	0	LGGM	GRCh37	19	47883028	47883028	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	42	25	.	.	ENST00000328771.4:c.2768A>G	p.Asp923Gly	p.D923G	ENST00000328771	NM_014681.5	923	gAt/gGt	0	1	1	UPI0000202759	0	NA	ENST00000328771		ENSG00000134815	16719		67	1.79		HGNC	p.D923G		DHX34		SNV							ENST00000328771	protein_coding	getma.org/?cm=var&var=hg19,19,47883028,A,G&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF110		D/G		G	low	3117/4372		getma.org/?cm=msa&ty=f&p=DHX34_HUMAN&rb=912&re=1111&var=D923G	deleterious(0)				YES	DHX34,missense_variant,p.Asp923Gly,ENST00000328771,NM_014681.5;DHX34,3_prime_UTR_variant,,ENST00000460681,;DHX34,non_coding_transcript_exon_variant,,ENST00000486327,;							MODERATE	2768/3432	D923G	DHX34_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000331907		CCDS12700.1			1	
DNMBP	0	LGGM	GRCh37	10	101658040	101658040	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	30	27	.	.	ENST00000324109.4:c.2723G>A	p.Gly908Glu	p.G908E	ENST00000324109	NM_015221.2	908	gGa/gAa	0	1	1	UPI000013D6C9	0	getma.org/pdb.php?prot=DNMBP_HUMAN&from=788&to=966&var=G908E	ENST00000324109		ENSG00000107554	30373		57	2.135		HGNC	p.G908E		DNMBP		SNV							ENST00000342239	protein_coding	getma.org/?cm=var&var=hg19,10,101658040,C,T&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19,SMART_domains:SM00325,Superfamily_domains:SSF48065		G/E		T	medium	2815/6400		getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=788&re=966&var=G908E	deleterious(0)	B4E0Q3_HUMAN			YES	DNMBP,missense_variant,p.Gly908Glu,ENST00000342239,;DNMBP,missense_variant,p.Gly908Glu,ENST00000324109,NM_015221.2;DNMBP,missense_variant,p.Gly154Glu,ENST00000543621,;DNMBP,missense_variant,p.Gly196Glu,ENST00000422692,;DNMBP,upstream_gene_variant,,ENST00000540316,;							MODERATE	2723/4734	G908E	DNMBP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000315659		CCDS7485.1			1	
C5orf42	0	LGGM	GRCh37	5	37169631	37169631	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	35	27	.	.	ENST00000425232.2:c.6495A>G	p.Gln2165=	p.Q2165=	ENST00000425232	NM_023073.3	2165	caA/caG	0	1	1	UPI0001AAB3EA	0		ENST00000425232		ENSG00000197603	25801		62			HGNC	p.Q1045Q		C5orf42		SNV			1				ENST00000274258	protein_coding			hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		Q		C		6726/11199							YES	C5orf42,synonymous_variant,p.=,ENST00000274258,;C5orf42,synonymous_variant,p.=,ENST00000425232,NM_023073.3;C5orf42,synonymous_variant,p.=,ENST00000508244,;C5orf42,synonymous_variant,p.=,ENST00000514429,;C5orf42,upstream_gene_variant,,ENST00000511824,;C5orf42,synonymous_variant,p.=,ENST00000509849,;C5orf42,downstream_gene_variant,,ENST00000511781,;							LOW	6495/9594		CE042_HUMAN			Transcript			.	ENSP00000389014		CCDS34146.2			1	
TPX2	0	LGGM	GRCh37	20	30347972	30347972	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	59	28	.	.	ENST00000300403.6:c.219T>G	p.Pro73=	p.P73=	ENST00000300403	NM_012112.4	73	ccT/ccG	0	1	1	UPI00000015BB	0		ENST00000300403		ENSG00000088325	1249		87			HGNC	p.P73P		TPX2		SNV							ENST00000340513	protein_coding			hmmpanther:PTHR14326,hmmpanther:PTHR14326:SF9		P		G		747/3497				Q96FC3_HUMAN,Q643R0_HUMAN,B3KM90_HUMAN			YES	TPX2,synonymous_variant,p.=,ENST00000340513,;TPX2,synonymous_variant,p.=,ENST00000300403,NM_012112.4;							LOW	219/2244		TPX2_HUMAN			Transcript			.	ENSP00000300403		CCDS13190.1			1	
CACNA1C	0	LGGM	GRCh37	12	2614061	2614061	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	42	29	.	.	ENST00000347598.4:c.1167C>T	p.Ile389=	p.I389=	ENST00000347598	NM_199460.2	389	atC/atT	0	1	1	UPI0000E593E5	0		ENST00000347598		ENSG00000151067	1390		71			HGNC	p.I389I		CACNA1C		SNV			1				ENST00000399629	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF188,Pfam_domain:PF00520,Superfamily_domains:SSF81324		I		T		1167/6655				Q86XX0_HUMAN,O95234_HUMAN			YES	CACNA1C,synonymous_variant,p.=,ENST00000399655,NM_001129834.1,NM_001129829.1,NM_000719.6;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.=,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.=,ENST00000399644,NM_001129841.1;CACNA1C,synonymous_variant,p.=,ENST00000399601,NM_001129843.1;CACNA1C,synonymous_variant,p.=,ENST00000399597,NM_001129844.1,NM_001129842.1;CACNA1C,intron_variant,,ENST00000406454,;CACNA1C,intron_variant,,ENST00000399634,NM_001167625.1;CACNA1C,intron_variant,,ENST00000399617,NM_001167624.1;CACNA1C,intron_variant,,ENST00000399603,NM_001167623.1;CACNA1C,intron_variant,,ENST00000399641,NM_001129840.1;CACNA1C,intron_variant,,ENST00000491104,;							LOW	1167/6561		CAC1C_HUMAN			Transcript			.	ENSP00000266376		CCDS44788.1			1	
RP11-472M19.2	0	LGGM	GRCh37	6	56716403	56716404	+	intron_variant,non_coding_transcript_variant	Intron	INS	-	-	TG	novel	by Submitter	H090901	H090901N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	52	30	.	.	ENST00000426453.1:n.65+7540_65+7541insGT		*22*	ENST00000426453				0	1	1		0		ENST00000426453		ENSG00000231441			82			Clone_based_vega_gene	-		RP11-472M19.2		insertion							ENST00000370754	antisense							TG		-/551							YES	DST,splice_acceptor_variant,,ENST00000370754,;DST,splice_acceptor_variant,,ENST00000520645,;DST,splice_acceptor_variant,,ENST00000449297,;RP11-472M19.2,intron_variant,,ENST00000426453,;DST,splice_acceptor_variant,,ENST00000524302,;DST,splice_acceptor_variant,,ENST00000517937,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;							MODIFIER						Transcript	1		.						1	
MAP3K5	0	LGGM	GRCh37	6	136901463	136901463	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	36	30	.	.	ENST00000359015.4:c.3493A>C	p.Thr1165Pro	p.T1165P	ENST00000359015	NM_005923.3	1165	Aca/Cca	0	1	1	UPI000012EAD5	0	NA	ENST00000359015		ENSG00000197442	6857		66	1.95		HGNC	p.T1165P		MAP3K5		SNV							ENST00000359015	protein_coding	getma.org/?cm=var&var=hg19,6,136901463,T,G&fts=all		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332		T/P		G	medium	3854/5197		getma.org/?cm=msa&ty=f&p=M3K5_HUMAN&rb=1002&re=1372&var=T1165P	deleterious(0.02)	A6NIA0_HUMAN			YES	MAP3K5,missense_variant,p.Thr1165Pro,ENST00000359015,NM_005923.3;MAP3K5,missense_variant,p.Thr412Pro,ENST00000355845,;MAP3K5,downstream_gene_variant,,ENST00000463140,;							MODERATE	3493/4125	T1165P	M3K5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000351908		CCDS5179.1			1	
NKTR	0	LGGM	GRCh37	3	42679281	42679281	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	50	31	.	.	ENST00000232978.8:c.2085A>C	p.Arg695Ser	p.R695S	ENST00000232978	NM_005385.3	695	agA/agC	0	1	1	UPI00001301FD	0	NA	ENST00000232978		ENSG00000114857	7833		81	0.345		HGNC	p.R695S		NKTR		SNV							ENST00000232978	protein_coding	getma.org/?cm=var&var=hg19,3,42679281,A,C&fts=all		Low_complexity_(Seg):seg		R/S		C	neutral	2273/7337		getma.org/?cm=msa&ty=f&p=NKTR_HUMAN&rb=638&re=714&var=R695S	tolerated_low_confidence(0.7)				YES	NKTR,missense_variant,p.Arg695Ser,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,,ENST00000465584,;NKTR,downstream_gene_variant,,ENST00000498730,;NKTR,downstream_gene_variant,,ENST00000460807,;NKTR,downstream_gene_variant,,ENST00000508351,;NKTR,downstream_gene_variant,,ENST00000472127,;NKTR,downstream_gene_variant,,ENST00000472258,;NKTR,downstream_gene_variant,,ENST00000464315,;							MODERATE	2085/4389	R695S	NKTR_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000232978		CCDS2702.1			1	
SWT1	0	LGGM	GRCh37	1	185183645	185183645	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	48	31	.	.	ENST00000367500.4:c.1979A>C	p.Lys660Thr	p.K660T	ENST00000367500	NM_017673.6	660	aAg/aCg	0	1	1	UPI000013D4C5	0	NA	ENST00000367500		ENSG00000116668	16785		79	1.7		HGNC	p.K660T		SWT1		SNV							ENST00000367500	protein_coding	getma.org/?cm=var&var=hg19,1,185183645,A,C&fts=all		hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0		K/T		C	low	2144/3830		getma.org/?cm=msa&ty=f&p=SWT1_HUMAN&rb=529&re=728&var=K660T	deleterious(0.01)	Q5TC96_HUMAN,B3KSB6_HUMAN			YES	SWT1,missense_variant,p.Lys660Thr,ENST00000367500,NM_017673.6;SWT1,missense_variant,p.Lys660Thr,ENST00000367501,NM_001105518.1;							MODERATE	1979/2703	K660T	SWT1_HUMAN			Transcript		benign(0.046)	.	ENSP00000356470		CCDS1367.1			1	
RBCK1	0	LGGM	GRCh37	20	391164	391164	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	74	31	.	.	ENST00000356286.5:c.167+495A>G		*56*	ENST00000356286	NM_031229.2			0	1	1	UPI000006F045	0		ENST00000356286		ENSG00000125826	15864		105			HGNC	p.K50K		RBCK1		SNV			1				ENST00000400247	protein_coding							G		-/2774				Q5JWR1_HUMAN			YES	RBCK1,synonymous_variant,p.=,ENST00000475269,;RBCK1,synonymous_variant,p.=,ENST00000400247,;RBCK1,intron_variant,,ENST00000356286,NM_031229.2;RBCK1,intron_variant,,ENST00000353660,NM_006462.4;RBCK1,intron_variant,,ENST00000382181,;RBCK1,intron_variant,,ENST00000441733,;RBCK1,intron_variant,,ENST00000414880,;RBCK1,intron_variant,,ENST00000411647,;RBCK1,non_coding_transcript_exon_variant,,ENST00000400245,;RBCK1,downstream_gene_variant,,ENST00000465226,;RBCK1,intron_variant,,ENST00000382214,;RBCK1,intron_variant,,ENST00000415942,;							MODIFIER	-/1533		HOIL1_HUMAN			Transcript			.	ENSP00000348632		CCDS13000.2			1	
FAT4	0	LGGM	GRCh37	4	126370153	126370153	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	59	31	.	.	ENST00000394329.3:c.7982A>T	p.Asp2661Val	p.D2661V	ENST00000394329	NM_024582.4	2661	gAt/gTt	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=2568&to=2669&var=D2661V	ENST00000394329		ENSG00000196159	23109		90	4.405		HGNC	p.D2661V		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126370153,A,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/V		T	high	7995/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=2568&re=2669&var=D2661V		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Asp2661Val,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Asp959Val,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;							MODERATE	7982/14946	D2661V	FAT4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377862		CCDS3732.3			1	
ABCB1	0	LGGM	GRCh37	7	87173549	87173549	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	43	31	.	.	ENST00000265724.3:c.2107C>A	p.Leu703Ile	p.L703I	ENST00000265724	NM_000927.4	703	Cta/Ata	0	1	1	UPI000013D66C	0	NA	ENST00000265724		ENSG00000085563	40		74	2.435		HGNC	p.L639I		ABCB1		SNV			1				ENST00000543898	protein_coding	getma.org/?cm=var&var=hg19,7,87173549,G,T&fts=all		hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF155,Gene3D:2hydA01,Superfamily_domains:SSF90123		L/I		T	medium	2525/4645		getma.org/?cm=msa&ty=f&p=MDR1_HUMAN&rb=560&re=710&var=L703I	deleterious(0)	Q6TBL4_HUMAN,E7EWT8_HUMAN,B5U2G4_HUMAN,A4D1D2_HUMAN			YES	ABCB1,missense_variant,p.Leu703Ile,ENST00000265724,NM_000927.4;ABCB1,missense_variant,p.Leu639Ile,ENST00000543898,;ABCB1,downstream_gene_variant,,ENST00000482527,;							MODERATE	2107/3843	L703I	MDR1_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000265724		CCDS5608.1			1	
COL12A1	0	LGGM	GRCh37	6	75860881	75860881	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	45	32	.	.	ENST00000322507.8:c.4123T>C	p.Leu1375=	p.L1375=	ENST00000322507	NM_004370.5	1375	Ttg/Ctg	0	1	1	UPI000045890B	0		ENST00000322507		ENSG00000111799	2188		77			HGNC	p.L211L		COL12A1		SNV			1				ENST00000345356	protein_coding			hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		L		G		4433/11723							YES	COL12A1,synonymous_variant,p.=,ENST00000322507,NM_004370.5;COL12A1,synonymous_variant,p.=,ENST00000483888,;COL12A1,synonymous_variant,p.=,ENST00000416123,;COL12A1,synonymous_variant,p.=,ENST00000345356,NM_080645.2;COL12A1,synonymous_variant,p.=,ENST00000419671,;COL12A1,upstream_gene_variant,,ENST00000474564,;							LOW	4123/9192		COCA1_HUMAN			Transcript			.	ENSP00000325146		CCDS43482.1			1	
CRISP1	0	LGGM	GRCh37	6	49803137	49803137	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	37	32	.	.	ENST00000335847.4:c.642T>A	p.Tyr214Ter	p.Y214*	ENST00000335847	NM_001131.2	214	taT/taA	0	1	1	UPI0000128482	0	NA	ENST00000335847		ENSG00000124812	304		69	0		HGNC	p.Y214X		CRISP1		SNV							ENST00000505118	protein_coding	getma.org/?cm=var&var=hg19,6,49803137,A,T&fts=all		PROSITE_profiles:PS51670,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF68,Pfam_domain:PF08562,Superfamily_domains:SSF57546		Y/*		T	NA	744/1911		NA					YES	CRISP1,stop_gained,p.Tyr214Ter,ENST00000335847,NM_001131.2;CRISP1,stop_gained,p.Tyr214Ter,ENST00000355791,;CRISP1,stop_gained,p.Tyr214Ter,ENST00000505118,NM_001205220.1;CRISP1,3_prime_UTR_variant,,ENST00000507853,NM_170609.1;CRISP1,3_prime_UTR_variant,,ENST00000329411,;CRISP1,3_prime_UTR_variant,,ENST00000536021,;							HIGH	642/750	Y214*	CRIS1_HUMAN			Transcript			.	ENSP00000338276		CCDS4931.1			1	
ALS2CR11	0	LGGM	GRCh37	2	202352342	202352342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	5	33	.	.	ENST00000439140.1:c.5456G>T	p.Gly1819Val	p.G1819V	ENST00000439140	NM_001168221.1	1819	gGa/gTa	0	1		UPI000013DE33	0	NA	ENST00000286195		ENSG00000155754	14438		38	0.345		HGNC	p.G622V		ALS2CR11		SNV							ENST00000286195	protein_coding	getma.org/?cm=var&var=hg19,2,202352342,C,A&fts=all		hmmpanther:PTHR21665,hmmpanther:PTHR21665:SF2		G/V		A	neutral	1910/2104		getma.org/?cm=msa&ty=f&p=AL2SA_HUMAN&rb=592&re=623&var=G622V	tolerated_low_confidence(0.16)					ALS2CR11,missense_variant,p.Gly1819Val,ENST00000439140,NM_001168221.1;ALS2CR11,missense_variant,p.Gly622Val,ENST00000286195,NM_152525.5;ALS2CR11,3_prime_UTR_variant,,ENST00000439802,NM_001168216.1;ALS2CR11,downstream_gene_variant,,ENST00000482942,;							MODERATE	1865/1872	G622V	AL2SA_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000286195		CCDS2349.1			1	
ACAN	0	LGGM	GRCh37	15	89388772	89388772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	42	34	.	.	ENST00000439576.2:c.1088G>T	p.Gly363Val	p.G363V	ENST00000439576	NM_013227.3	363	gGa/gTa	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		76	2.075		HGNC	p.G363V		ACAN		SNV			1				ENST00000559004	protein_coding	getma.org/?cm=var&var=hg19,15,89388772,G,T&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		G/V		T	medium	1462/8840		getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=350&re=476&var=G363V	deleterious(0)	Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,missense_variant,p.Gly363Val,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Gly363Val,ENST00000559004,;ACAN,missense_variant,p.Gly363Val,ENST00000561243,;ACAN,missense_variant,p.Gly363Val,ENST00000352105,NM_001135.3;ACAN,missense_variant,p.Gly363Val,ENST00000558207,;							MODERATE	1088/7593	G363V				Transcript		unknown(0)	.	ENSP00000387356		CCDS53970.1			1	
MDGA2	0	LGGM	GRCh37	14	47426740	47426740	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	40	35	.	.	ENST00000426342.1:c.1032C>A	p.Thr344=	p.T344=	ENST00000426342	NM_182830.4	344	acC/acA	0	1		UPI00001C14FF	0		ENST00000399232		ENSG00000139915	19835		75			HGNC	p.T344T		MDGA2		SNV							ENST00000426342	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR23282:SF62,hmmpanther:PTHR23282,PROSITE_profiles:PS50835		T		T		2084/5075				F8WE89_HUMAN				MDGA2,synonymous_variant,p.=,ENST00000426342,NM_182830.4;MDGA2,synonymous_variant,p.=,ENST00000399232,NM_001113498.2;MDGA2,synonymous_variant,p.=,ENST00000439988,;MDGA2,synonymous_variant,p.=,ENST00000357362,;SNORA25,upstream_gene_variant,,ENST00000515926,;MDGA2,3_prime_UTR_variant,,ENST00000557238,;							LOW	1719/2871		MDGA2_HUMAN			Transcript			.	ENSP00000382178		CCDS45098.3			1	
PTPRC	0	LGGM	GRCh37	1	198665869	198665869	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	65	35	.	.	ENST00000442510.2:c.129T>C	p.Val43=	p.V43=	ENST00000442510		43	gtT/gtC	0	1	1	UPI000046FDB4	0		ENST00000442510		ENSG00000081237	9666		100			HGNC	p.V41V		PTPRC		SNV			1				ENST00000367376	protein_coding			Pfam_domain:PF12453,PIRSF_domain:PIRSF002004		V		C		270/5164				M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN			YES	PTPRC,synonymous_variant,p.=,ENST00000367376,NM_002838.4;PTPRC,synonymous_variant,p.=,ENST00000352140,;PTPRC,synonymous_variant,p.=,ENST00000442510,;PTPRC,synonymous_variant,p.=,ENST00000418674,;PTPRC,intron_variant,,ENST00000594404,NM_080921.3;PTPRC,intron_variant,,ENST00000348564,;PTPRC,intron_variant,,ENST00000367367,;PTPRC,intron_variant,,ENST00000530727,;PTPRC,intron_variant,,ENST00000367379,;PTPRC,downstream_gene_variant,,ENST00000413409,NM_001267798.1;PTPRC,downstream_gene_variant,,ENST00000598951,;PTPRC,downstream_gene_variant,,ENST00000367364,;PTPRC,intron_variant,,ENST00000391970,;PTPRC,intron_variant,,ENST00000427110,;PTPRC,synonymous_variant,p.=,ENST00000529828,;PTPRC,intron_variant,,ENST00000462363,;PTPRC,upstream_gene_variant,,ENST00000484135,;							LOW	129/3921					Transcript			.	ENSP00000411355		CCDS1397.2			1	
ROBO2	0	LGGM	GRCh37	3	77600067	77600067	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	32	35	.	.	ENST00000487694.3:c.1206G>A	p.Ala402=	p.A402=	ENST00000487694	NM_001128929.2	402	gcG/gcA	0	1		UPI00003A9322	0		ENST00000461745		ENSG00000185008	10250		67			HGNC	p.A386A	rs775905540	ROBO2		SNV			1				ENST00000332191	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR10489:SF27,hmmpanther:PTHR10489,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00406,SMART_domains:SM00408,Superfamily_domains:SSF48726		A		A		2058/8946	7.51E-05							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,synonymous_variant,p.=,ENST00000473767,;							LOW	1158/4137		ROBO2_HUMAN			Transcript			.	ENSP00000417164	4.14E-05	CCDS43109.1			1	
SWT1	0	LGGM	GRCh37	1	185183669	185183669	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	54	36	.	.	ENST00000367500.4:c.2003A>T	p.Lys668Ile	p.K668I	ENST00000367500	NM_017673.6	668	aAa/aTa	0	1	1	UPI000013D4C5	0	NA	ENST00000367500		ENSG00000116668	16785		90	2.25		HGNC	p.K668I		SWT1		SNV							ENST00000367500	protein_coding	getma.org/?cm=var&var=hg19,1,185183669,A,T&fts=all		hmmpanther:PTHR16161,hmmpanther:PTHR16161:SF0		K/I		T	medium	2168/3830		getma.org/?cm=msa&ty=f&p=SWT1_HUMAN&rb=529&re=728&var=K668I	tolerated(0.06)	Q5TC96_HUMAN,B3KSB6_HUMAN			YES	SWT1,missense_variant,p.Lys668Ile,ENST00000367500,NM_017673.6;SWT1,missense_variant,p.Lys668Ile,ENST00000367501,NM_001105518.1;							MODERATE	2003/2703	K668I	SWT1_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000356470		CCDS1367.1			1	
MMP16	0	LGGM	GRCh37	8	89068419	89068419	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	31	37	.	.	ENST00000286614.6:c.1310A>G	p.His437Arg	p.H437R	ENST00000286614	NM_005941.4	437	cAt/cGt	0	1	1	UPI000003DC73	0	getma.org/pdb.php?prot=MMP16_HUMAN&from=437&to=438&var=H437R	ENST00000286614		ENSG00000156103	7162		68	0.155		HGNC	p.H437R		MMP16		SNV							ENST00000286614	protein_coding	getma.org/?cm=var&var=hg19,8,89068419,T,C&fts=all		PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF26,Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,Superfamily_domains:SSF50923		H/R		C	neutral	1592/11558		getma.org/?cm=msa&ty=f&p=MMP16_HUMAN&rb=407&re=468&var=H437R	tolerated(0.06)				YES	MMP16,missense_variant,p.His437Arg,ENST00000286614,NM_005941.4;							MODERATE	1310/1824	H437R	MMP16_HUMAN			Transcript		benign(0.114)	.	ENSP00000286614		CCDS6246.1			1	
DNAH7	0	LGGM	GRCh37	2	196605557	196605557	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	10	38	.	.	ENST00000312428.6:c.11801C>A	p.Ser3934Tyr	p.S3934Y	ENST00000312428	NM_018897.2	3934	tCc/tAc	0	1	1	UPI0000141B95	0	getma.org/pdb.php?prot=DYH7_HUMAN&from=3312&to=4021&var=S3934Y	ENST00000312428		ENSG00000118997	18661		48	1.735		HGNC	p.S3934Y		DNAH7		SNV							ENST00000312428	protein_coding	getma.org/?cm=var&var=hg19,2,196605557,G,T&fts=all		hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF03028		S/Y		T	low	11902/12394		getma.org/?cm=msa&ty=f&p=DYH7_HUMAN&rb=3312&re=4021&var=S3934Y	deleterious(0)	C9JUY3_HUMAN			YES	DNAH7,missense_variant,p.Ser3934Tyr,ENST00000312428,NM_018897.2;DNAH7,missense_variant,p.Ser417Tyr,ENST00000409063,;DNAH7,missense_variant,p.Pro35Thr,ENST00000438565,;SLC39A10,downstream_gene_variant,,ENST00000409086,NM_001127257.1;SLC39A10,downstream_gene_variant,,ENST00000359634,NM_020342.2;DNAH7,non_coding_transcript_exon_variant,,ENST00000484183,;SLC39A10,downstream_gene_variant,,ENST00000430412,;							MODERATE	11801/12075	S3934Y	DYH7_HUMAN			Transcript		possibly_damaging(0.722)	.	ENSP00000311273		CCDS42794.1			1	
TAS2R20	0	LGGM	GRCh37	12	11150216	11150216	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	71	41	.	.	ENST00000538986.1:c.259G>A	p.Ala87Thr	p.A87T	ENST00000538986	NM_176889.2	87	Gcc/Acc	0	1	1	UPI000000D822	0	NA	ENST00000538986		ENSG00000255837	19109		112	2.11		HGNC	p.A87T		TAS2R20		SNV							ENST00000538986	protein_coding	getma.org/?cm=var&var=hg19,12,11150216,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF35,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/T		T	medium	259/1381		getma.org/?cm=msa&ty=f&p=T2R20_HUMAN&rb=1&re=298&var=A87T	tolerated(0.28)	Q50KF4_HUMAN			YES	TAS2R20,missense_variant,p.Ala87Thr,ENST00000538986,NM_176889.2;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRR4,intron_variant,,ENST00000541977,;							MODERATE	259/930	A87T	T2R20_HUMAN			Transcript		benign(0.14)	.	ENSP00000441624		CCDS8639.1			1	
FAT2	0	LGGM	GRCh37	5	150908850	150908850	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	27	41	.	.	ENST00000261800.5:c.9915C>A	p.Thr3305=	p.T3305=	ENST00000261800	NM_001447.2	3305	acC/acA	0	1	1	UPI0000055B22	0		ENST00000261800		ENSG00000086570	3596		68			HGNC	p.T3305T		FAT2		SNV							ENST00000261800	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		T		T		9928/14534							YES	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;FAT2,synonymous_variant,p.=,ENST00000520200,;							LOW	9915/13050		FAT2_HUMAN			Transcript			.	ENSP00000261800		CCDS4317.1			1	
SEC31A	0	LGGM	GRCh37	4	83802077	83802077	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	63	45	.	.	ENST00000395310.2:c.80-2A>G		p.X27_splice	ENST00000395310	NM_001077207.2			0	1		UPI000003E7E1	0		ENST00000355196		ENSG00000138674	17052		108			HGNC	-		SEC31A		SNV							ENST00000395310	protein_coding							C		-/4104				U3KQC9_HUMAN,D6REC0_HUMAN,D6REA9_HUMAN,D6RE64_HUMAN,D6RCQ9_HUMAN,D6RBT0_HUMAN				SEC31A,splice_acceptor_variant,,ENST00000432794,;SEC31A,splice_acceptor_variant,,ENST00000395310,NM_001077207.2,NM_014933.3,NM_001077208.2;SEC31A,splice_acceptor_variant,,ENST00000448323,;SEC31A,splice_acceptor_variant,,ENST00000505472,;SEC31A,splice_acceptor_variant,,ENST00000326950,NM_016211.3;SEC31A,splice_acceptor_variant,,ENST00000355196,;SEC31A,splice_acceptor_variant,,ENST00000443462,NM_001191049.1;SEC31A,splice_acceptor_variant,,ENST00000348405,;SEC31A,splice_acceptor_variant,,ENST00000311785,NM_001077206.2;SEC31A,splice_acceptor_variant,,ENST00000509142,;SEC31A,splice_acceptor_variant,,ENST00000508502,;SEC31A,splice_acceptor_variant,,ENST00000513858,;SEC31A,splice_acceptor_variant,,ENST00000500777,;SEC31A,splice_acceptor_variant,,ENST00000505984,;SEC31A,splice_acceptor_variant,,ENST00000508479,;SEC31A,splice_acceptor_variant,,ENST00000514326,;SEC31A,splice_acceptor_variant,,ENST00000513323,;SEC31A,splice_acceptor_variant,,ENST00000505434,;SEC31A,splice_acceptor_variant,,ENST00000503210,;SEC31A,splice_acceptor_variant,,ENST00000507676,;SEC31A,intron_variant,,ENST00000503058,;SEC31A,downstream_gene_variant,,ENST00000506495,;SEC31A,downstream_gene_variant,,ENST00000507051,;SEC31A,splice_acceptor_variant,,ENST00000436790,;SEC31A,splice_acceptor_variant,,ENST00000506497,;SEC31A,splice_acceptor_variant,,ENST00000507867,;SEC31A,splice_acceptor_variant,,ENST00000510310,;SEC31A,splice_acceptor_variant,,ENST00000511975,;SEC31A,splice_acceptor_variant,,ENST00000507340,;SEC31A,splice_acceptor_variant,,ENST00000507816,;							HIGH	80/3663		SC31A_HUMAN			Transcript			.	ENSP00000347329		CCDS3596.1			1	
RYR3	0	LGGM	GRCh37	15	33905515	33905515	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	8	46	.	.	ENST00000389232.4:c.2296T>C	p.Phe766Leu	p.F766L	ENST00000389232	NM_001036.3	766	Ttt/Ctt	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		54	2.72		HGNC	p.F766L		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33905515,T,C&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188		F/L		C	medium	2366/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=657&re=795&var=F766L					YES	RYR3,missense_variant,p.Phe766Leu,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Phe766Leu,ENST00000415757,NM_001243996.1;							MODERATE	2296/14613	F766L	RYR3_HUMAN			Transcript		benign(0.256)	.	ENSP00000373884		CCDS45210.1			1	
MLXIP	0	LGGM	GRCh37	12	122612491	122612491	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	61	47	.	.	ENST00000319080.7:c.582C>T	p.Asp194=	p.D194=	ENST00000319080	NM_014938.4_dupl16	194	gaC/gaT	0	1	1	UPI0000D6226F	0		ENST00000319080		ENSG00000175727	17055		108			HGNC	p.D194D	rs369544906	MLXIP		SNV	T:0.0002			0.000307			ENST00000319080	protein_coding		T:0.0008	hmmpanther:PTHR15741,hmmpanther:PTHR15741:SF23		D	T:0	T		714/8427				F5H321_HUMAN	T:0	T:0	YES	MLXIP,synonymous_variant,p.=,ENST00000319080,NM_014938.4_dupl16;MLXIP,5_prime_UTR_variant,,ENST00000535430,;MLXIP,upstream_gene_variant,,ENST00000538698,;MLXIP,non_coding_transcript_exon_variant,,ENST00000539861,;MLXIP,upstream_gene_variant,,ENST00000538061,;MLXIP,upstream_gene_variant,,ENST00000535876,;		T:0.0002					LOW	582/2760		MLXIP_HUMAN		T:0	Transcript			.	ENSP00000312834	2.48E-05			T:0	1	
DCHS2	0	LGGM	GRCh37	4	155157111	155157111	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H090901	H090901N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	61	47	.	.	ENST00000357232.4:c.7328T>A	p.Leu2443Ter	p.L2443*	ENST00000357232	NM_017639.3	2443	tTg/tAg	0	1	1	UPI000035B018	0	NA	ENST00000357232		ENSG00000197410	23111		108	0		HGNC	p.L2443X		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155157111,A,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		L/*		T	NA	7328/11040		NA		B3KT73_HUMAN			YES	DCHS2,stop_gained,p.Leu2443Ter,ENST00000357232,NM_017639.3;							HIGH	7328/8751	L2443*	PCD23_HUMAN			Transcript			.	ENSP00000349768		CCDS3785.1			1	
GALR1	0	LGGM	GRCh37	18	74980750	74980750	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	22	50	.	.	ENST00000299727.3:c.942T>A	p.Tyr314Ter	p.Y314*	ENST00000299727	NM_001480.3	314	taT/taA	0	1	1	UPI000013E5DE	0	NA	ENST00000299727		ENSG00000166573	4132		72	0		HGNC	p.Y314X		GALR1		SNV							ENST00000299727	protein_coding	getma.org/?cm=var&var=hg19,18,74980750,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF31,Superfamily_domains:SSF81321		Y/*		A	NA	942/1050		NA					YES	GALR1,stop_gained,p.Tyr314Ter,ENST00000299727,NM_001480.3;							HIGH	942/1050	Y314*	GALR1_HUMAN			Transcript			.	ENSP00000299727		CCDS12012.1			1	
LCA5	0	LGGM	GRCh37	6	80196948	80196948	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H090901	H090901N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	100	54	.	.	ENST00000392959.1:c.1867G>T	p.Asp623Tyr	p.D623Y	ENST00000392959	NM_181714.3	623	Gac/Tac	0	1		UPI000007144D	0	NA	ENST00000369846		ENSG00000135338	31923		154	1.955		HGNC	p.D623Y		LCA5		SNV			1				ENST00000369846	protein_coding	getma.org/?cm=var&var=hg19,6,80196948,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16650,hmmpanther:PTHR16650:SF8		D/Y		A	medium	2302/4542		getma.org/?cm=msa&ty=f&p=LCA5_HUMAN&rb=1&re=696&var=D623Y	deleterious(0)	A7X9N5_HUMAN				LCA5,missense_variant,p.Asp623Tyr,ENST00000392959,NM_181714.3;LCA5,missense_variant,p.Asp623Tyr,ENST00000369846,NM_001122769.2;LCA5,downstream_gene_variant,,ENST00000467898,;							MODERATE	1867/2094	D623Y	LCA5_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000358861		CCDS4990.1			1	
RNF103	0	LGGM	GRCh37	2	86831135	86831135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	56	58	.	.	ENST00000237455.4:c.1889A>G	p.Asn630Ser	p.N630S	ENST00000237455	NM_005667.3	630	aAt/aGt	0	1	1	UPI0000073F2A	0	getma.org/pdb.php?prot=RN103_HUMAN&from=619&to=665&var=N630S	ENST00000237455		ENSG00000239305	12859		114	-0.115		HGNC	p.N630S		RNF103		SNV							ENST00000237455	protein_coding	getma.org/?cm=var&var=hg19,2,86831135,T,C&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR15302,hmmpanther:PTHR15302:SF0,Pfam_domain:PF13639,Gene3D:3.30.40.10,SMART_domains:SM00184,Superfamily_domains:SSF57850		N/S		C	neutral	2858/3477		getma.org/?cm=msa&ty=f&p=RN103_HUMAN&rb=619&re=665&var=N630S	tolerated(0.93)				YES	RNF103,missense_variant,p.Asn630Ser,ENST00000237455,NM_005667.3,NM_001198951.1;RNF103-CHMP3,intron_variant,,ENST00000604011,;CHMP3,intron_variant,,ENST00000439940,NM_001198954.1;RNF103-CHMP3,intron_variant,,ENST00000440757,;AC015971.2,non_coding_transcript_exon_variant,,ENST00000426549,;AC015971.2,intron_variant,,ENST00000597638,;AC015971.2,intron_variant,,ENST00000439077,;AC015971.2,upstream_gene_variant,,ENST00000424788,;RNF103,downstream_gene_variant,,ENST00000477307,;RNF103,downstream_gene_variant,,ENST00000463333,;RNF103,non_coding_transcript_exon_variant,,ENST00000472030,;							MODERATE	1889/2058	N630S	RN103_HUMAN			Transcript		benign(0.02)	.	ENSP00000237455		CCDS33237.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37486381	37486381	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H090901	H090901N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	121	79	.	.	ENST00000361713.1:c.2521T>A	p.Leu841Met	p.L841M	ENST00000361713	NM_052997.2	841	Ttg/Atg	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		200	-0.145		HGNC	p.L841M		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37486381,T,A&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11		L/M		A	neutral	2620/4405		getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=281&re=1396&var=L897M	tolerated(0.83)	R4GNA2_HUMAN			YES	ANKRD30A,missense_variant,p.Leu960Met,ENST00000374660,;ANKRD30A,missense_variant,p.Leu841Met,ENST00000602533,;ANKRD30A,missense_variant,p.Leu841Met,ENST00000361713,NM_052997.2;ANKRD30A,downstream_gene_variant,,ENST00000475522,;							MODERATE	2521/4026	L897M	AN30A_HUMAN			Transcript		benign(0.084)	.	ENSP00000354432		CCDS7193.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110394736	110394736	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H090901	H090901N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090901N.bam, H090901T.bam	Illumina HiSeq	119	102	.	.	ENST00000378402.5:c.353G>T	p.Gly118Val	p.G118V	ENST00000378402	NM_177531.4	118	gGg/gTg	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		221	2.485		HGNC	p.G118V		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110394736,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296		G/V		T	medium	457/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=31&re=137&var=G118V	deleterious(0)				YES	PKHD1L1,missense_variant,p.Gly118Val,ENST00000378402,NM_177531.4;							MODERATE	353/12732	G118V	PKHL1_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000367655		CCDS47911.1			1	
APIP	0	LGGM	GRCh37	11	34937819	34937819	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	5	2	.	.	ENST00000395787.3:c.13G>T	p.Asp5Tyr	p.D5Y	ENST00000395787	NM_015957.2	5	Gat/Tat	0	1	1	UPI00000411D1	0	NA	ENST00000395787		ENSG00000149089	17581		7	0		HGNC	p.D5Y		APIP		SNV							ENST00000395787	protein_coding	getma.org/?cm=var&var=hg19,11,34937819,C,A&fts=all				D/Y		A	neutral	228/1366		getma.org/?cm=msa&ty=f&p=MTNB_HUMAN&rb=1&re=56&var=D5Y	tolerated_low_confidence(0.45)				YES	APIP,missense_variant,p.Asp5Tyr,ENST00000395787,NM_015957.2;PDHX,5_prime_UTR_variant,,ENST00000448838,NM_001135024.1,NM_003477.2;APIP,5_prime_UTR_variant,,ENST00000278359,;PDHX,intron_variant,,ENST00000533550,;PDHX,upstream_gene_variant,,ENST00000227868,;PDHX,upstream_gene_variant,,ENST00000430469,NM_001166158.1;PDHX,upstream_gene_variant,,ENST00000533262,;APIP,non_coding_transcript_exon_variant,,ENST00000527830,;							MODERATE	13/729	D5Y	MTNB_HUMAN			Transcript		benign(0)	.	ENSP00000379133		CCDS7895.1			1	
LRP1	0	LGGM	GRCh37	12	57567124	57567124	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	6	2	.	.	ENST00000243077.3:c.3337A>T	p.Lys1113Ter	p.K1113*	ENST00000243077	NM_002332.2	1113	Aag/Tag	0	1	1	UPI00001B044F	0	NA	ENST00000243077		ENSG00000123384	6692		8	0		HGNC	p.K1113X		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57567124,A,T&fts=all		Pfam_domain:PF00057,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00192,Superfamily_domains:SSF57424		K/*		T	NA	3803/14897		NA		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,stop_gained,p.Lys1113Ter,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000553446,;							HIGH	3337/13635	K1113*	LRP1_HUMAN			Transcript			.	ENSP00000243077		CCDS8932.1			1	
CLUH	0	LGGM	GRCh37	17	2599477	2599477	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	2	2	.	.	ENST00000570628.2:c.2250G>T	p.Leu750=	p.L750=	ENST00000570628		750	ctG/ctT	0	1		UPI00004C8042	0		ENST00000435359		ENSG00000132361	29094		4			HGNC	p.L683L		CLUH		SNV							ENST00000575014	protein_coding			HAMAP:MF_03013,hmmpanther:PTHR12601,hmmpanther:PTHR12601:SF10		L		A		2336/5224				I3L3A3_HUMAN,I3L350_HUMAN,I3L318_HUMAN				CLUH,synonymous_variant,p.=,ENST00000570628,;CLUH,synonymous_variant,p.=,ENST00000435359,NM_015229.3;CLUH,synonymous_variant,p.=,ENST00000538975,;CLUH,synonymous_variant,p.=,ENST00000575014,;CLUH,synonymous_variant,p.=,ENST00000574426,;CLUH,downstream_gene_variant,,ENST00000572129,;CLUH,non_coding_transcript_exon_variant,,ENST00000575624,;CLUH,upstream_gene_variant,,ENST00000574210,;CLUH,upstream_gene_variant,,ENST00000574166,;CLUH,upstream_gene_variant,,ENST00000573641,;CLUH,upstream_gene_variant,,ENST00000572014,;CLUH,downstream_gene_variant,,ENST00000571539,;							LOW	2250/3930		CLU_HUMAN			Transcript			.	ENSP00000388872		CCDS45572.1			1	
ATP8A2	0	LGGM	GRCh37	13	26104774	26104774	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	9	2	.	.	ENST00000381655.2:c.396C>A	p.Gly132=	p.G132=	ENST00000381655	NM_016529.4	132	ggC/ggA	0	1	1	UPI0000229592	0		ENST00000381655		ENSG00000132932	13533		11			HGNC	p.G92G		ATP8A2		SNV			1				ENST00000255283	protein_coding			hmmpanther:PTHR24092:SF45,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01494,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Gene3D:2.70.150.10,Superfamily_domains:0049473		G		A		538/9575							YES	ATP8A2,synonymous_variant,p.=,ENST00000381655,NM_016529.4;ATP8A2,synonymous_variant,p.=,ENST00000255283,;ATP8A2,non_coding_transcript_exon_variant,,ENST00000381648,;ATP8A2,5_prime_UTR_variant,,ENST00000281620,;							LOW	396/3567		AT8A2_HUMAN			Transcript			.	ENSP00000371070		CCDS41873.1			1	
PTPRF	0	LGGM	GRCh37	1	44084973	44084973	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	5	2	.	.	ENST00000359947.4:c.4661G>T	p.Arg1554Leu	p.R1554L	ENST00000359947	NM_002840.3	1554	cGc/cTc	0	1	1	UPI0000470154	0	getma.org/pdb.php?prot=PTPRF_HUMAN&from=1375&to=1606&var=R1554L	ENST00000359947		ENSG00000142949	9670		7	4.665		HGNC	p.R1554L		PTPRF		SNV			1				ENST00000359947	protein_coding	getma.org/?cm=var&var=hg19,1,44084973,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_patterns:PS00383,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF203,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		R/L		T	high	5001/7727		getma.org/?cm=msa&ty=f&p=PTPRF_HUMAN&rb=1375&re=1606&var=R1554L	deleterious(0)	G1UI20_HUMAN			YES	PTPRF,missense_variant,p.Arg1554Leu,ENST00000359947,NM_002840.3;PTPRF,missense_variant,p.Arg1554Leu,ENST00000372414,;PTPRF,missense_variant,p.Arg1545Leu,ENST00000372413,;PTPRF,missense_variant,p.Arg1545Leu,ENST00000438120,NM_130440.2;PTPRF,missense_variant,p.Arg1200Leu,ENST00000429895,;PTPRF,missense_variant,p.Arg979Leu,ENST00000414879,;PTPRF,missense_variant,p.Arg913Leu,ENST00000422171,;PTPRF,missense_variant,p.Arg626Leu,ENST00000372407,;PTPRF,missense_variant,p.Arg938Leu,ENST00000412568,;PTPRF,non_coding_transcript_exon_variant,,ENST00000496447,;PTPRF,non_coding_transcript_exon_variant,,ENST00000477970,;							MODERATE	4661/5724	R1554L	PTPRF_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353030		CCDS489.2			1	
SLC16A2	0	LGGM	GRCh37	X	73744353	73744353	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	4	2	.	.	ENST00000587091.1:c.735C>A	p.Ser245=	p.S245=	ENST00000587091	NM_006517.4	245	tcC/tcA	0	1	1	UPI000019C3D5	0		ENST00000587091		ENSG00000147100	10923		6			HGNC	p.S319S		SLC16A2		SNV			1				ENST00000276033	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF123		S		A		912/4161							YES	SLC16A2,synonymous_variant,p.=,ENST00000276033,;SLC16A2,synonymous_variant,p.=,ENST00000587091,NM_006517.4;SLC16A2,synonymous_variant,p.=,ENST00000590447,;							LOW	735/1620		MOT8_HUMAN			Transcript			.	ENSP00000465734		CCDS14426.2			1	
TP53	0	LGGM	GRCh37	17	7574035	7574035	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	7	3	.	.	ENST00000269305.4:c.994-2A>T		p.X332_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		10			HGNC	-	TP53_g.16883A>T,COSM43791,COSM1610826	TP53		SNV			1			0,1,1	ENST00000269305	protein_coding							A		-/2579				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			YES	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,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,splice_acceptor_variant,,ENST00000510385,;TP53,splice_acceptor_variant,,ENST00000504290,;TP53,splice_acceptor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;					0,1,1		HIGH	994/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
CYP2A6	0	LGGM	GRCh37	19	41354155	41354155	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	34	3	.	.	ENST00000301141.5:c.623T>G	p.Ile208Ser	p.I208S	ENST00000301141	NM_000762.5	208	aTc/aGc	0	1	1	UPI000013E6D2	0	getma.org/pdb.php?prot=CP2A6_HUMAN&from=34&to=491&var=I208S	ENST00000301141		ENSG00000255974	2610		37	-0.105		HGNC	p.I208S		CYP2A6		SNV			1				ENST00000301141	protein_coding	getma.org/?cm=var&var=hg19,19,41354155,A,C&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		I/S		C	neutral	644/1764		getma.org/?cm=msa&ty=f&p=CP2A6_HUMAN&rb=34&re=491&var=I208S					YES	CYP2A6,missense_variant,p.Ile208Ser,ENST00000301141,NM_000762.5;CYP2A6,3_prime_UTR_variant,,ENST00000600495,;CYP2A6,non_coding_transcript_exon_variant,,ENST00000596719,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A6,upstream_gene_variant,,ENST00000599960,;							MODERATE	623/1485	I208S	CP2A6_HUMAN			Transcript		benign(0.02)	.	ENSP00000301141		CCDS12568.1			1	
WDR7	0	LGGM	GRCh37	18	54354140	54354140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	28	3	.	.	ENST00000254442.3:c.652C>A	p.Gln218Lys	p.Q218K	ENST00000254442	NM_015285.2	218	Caa/Aaa	0	1	1	UPI000013CE33	0	NA	ENST00000254442		ENSG00000091157	13490		31	1.78		HGNC	p.Q218K		WDR7		SNV							ENST00000357574	protein_coding	getma.org/?cm=var&var=hg19,18,54354140,C,A&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998		Q/K		A	low	863/9074		getma.org/?cm=msa&ty=f&p=WDR7_HUMAN&rb=96&re=295&var=Q218K	tolerated(0.61)	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN			YES	WDR7,missense_variant,p.Gln218Lys,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Gln218Lys,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000589935,;WDR7,downstream_gene_variant,,ENST00000593058,;							MODERATE	652/4473	Q218K	WDR7_HUMAN			Transcript		benign(0.039)	.	ENSP00000254442		CCDS11962.1			1	
STAT4	0	LGGM	GRCh37	2	191903950	191903950	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	44	3	.	.	ENST00000392320.2:c.1409A>G	p.Tyr470Cys	p.Y470C	ENST00000392320	NM_003151.3	470	tAc/tGc	0	1		UPI00000015F2	0	getma.org/pdb.php?prot=STAT4_HUMAN&from=316&to=563&var=Y470C	ENST00000358470		ENSG00000138378	11365		47	1.495		HGNC	p.Y470C		STAT4		SNV			1				ENST00000392320	protein_coding	getma.org/?cm=var&var=hg19,2,191903950,T,C&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF02864,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Superfamily_domains:SSF49417		Y/C		C	low	1667/2769		getma.org/?cm=msa&ty=f&p=STAT4_HUMAN&rb=316&re=563&var=Y470C	deleterious(0)	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN				STAT4,missense_variant,p.Tyr470Cys,ENST00000392320,NM_003151.3;STAT4,missense_variant,p.Tyr470Cys,ENST00000358470,NM_001243835.1;STAT4,non_coding_transcript_exon_variant,,ENST00000470708,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;							MODERATE	1409/2247	Y470C	STAT4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351255		CCDS2310.1			1	
CDCP1	0	LGGM	GRCh37	3	45134969	45134969	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	32	3	.	.	ENST00000296129.1:c.1427G>T	p.Cys476Phe	p.C476F	ENST00000296129	NM_022842.4	476	tGc/tTc	0	1	1	UPI000013E304	0	NA	ENST00000296129		ENSG00000163814	24357		35	2.215		HGNC	p.C476F		CDCP1		SNV							ENST00000296129	protein_coding	getma.org/?cm=var&var=hg19,3,45134969,C,A&fts=all		hmmpanther:PTHR14477,hmmpanther:PTHR14477:SF0		C/F		A	medium	1562/6006		getma.org/?cm=msa&ty=f&p=CDCP1_HUMAN&rb=61&re=834&var=C476F	deleterious(0)				YES	CDCP1,missense_variant,p.Cys476Phe,ENST00000296129,NM_022842.4;							MODERATE	1427/2511	C476F	CDCP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296129		CCDS2727.1			1	
ZNF710	0	LGGM	GRCh37	15	90623018	90623018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	27	3	.	.	ENST00000268154.4:c.1952C>A	p.Thr651Asn	p.T651N	ENST00000268154	NM_198526.2	651	aCt/aAt	0	1	1	UPI000013D7A4	0	NA	ENST00000268154		ENSG00000140548	25352		30	0.55		HGNC	p.T651N		ZNF710		SNV							ENST00000268154	protein_coding	getma.org/?cm=var&var=hg19,15,90623018,C,A&fts=all		hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF43		T/N		A	neutral	2203/4617		getma.org/?cm=msa&ty=f&p=ZN710_HUMAN&rb=599&re=664&var=T651N	deleterious_low_confidence(0.03)	H0YKZ0_HUMAN			YES	ZNF710,missense_variant,p.Thr651Asn,ENST00000268154,NM_198526.2;IDH2,downstream_gene_variant,,ENST00000330062,NM_002168.2;IDH2,downstream_gene_variant,,ENST00000540499,;IDH2,downstream_gene_variant,,ENST00000539790,;IDH2,downstream_gene_variant,,ENST00000559482,;RP11-617F23.1,intron_variant,,ENST00000558334,;ZNF710,upstream_gene_variant,,ENST00000560908,;IDH2,downstream_gene_variant,,ENST00000560061,;							MODERATE	1952/1995	T651N	ZN710_HUMAN			Transcript		benign(0.01)	.	ENSP00000268154		CCDS10358.1			1	
PSAT1	0	LGGM	GRCh37	9	80919793	80919793	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	37	3	.	.	ENST00000376588.3:c.334G>A	p.Ala112Thr	p.A112T	ENST00000376588	NM_058179.3	112	Gca/Aca	0	1	1	UPI0000001C03	0	getma.org/pdb.php?prot=SERC_HUMAN&from=7&to=357&var=A112T	ENST00000376588		ENSG00000135069	19129		40	2.25		HGNC	p.A112T	rs753859574	PSAT1	6.06E-05	SNV			1				ENST00000347159	protein_coding	getma.org/?cm=var&var=hg19,9,80919793,G,A&fts=all		Gene3D:3.40.640.10,HAMAP:MF_00160,Pfam_domain:PF00266,PIRSF_domain:PIRSF000525,hmmpanther:PTHR21152,hmmpanther:PTHR21152:SF17,Low_complexity_(Seg):seg,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR01364		A/T		A	medium	402/2188	1.50E-05	getma.org/?cm=msa&ty=f&p=SERC_HUMAN&rb=7&re=357&var=A112T	tolerated(0.26)	B4DHQ3_HUMAN,A9LS35_HUMAN			YES	PSAT1,missense_variant,p.Ala112Thr,ENST00000376588,NM_058179.3;PSAT1,missense_variant,p.Ala112Thr,ENST00000347159,NM_021154.4;							MODERATE	334/1113	A112T	SERC_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000365773	1.65E-05	CCDS6660.1			1	
ZNG1A	0	LGGM	GRCh37	9	162460	162460	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	26	3	.	.	ENST00000356521.4:c.500C>A	p.Thr167Asn	p.T167N	ENST00000356521	NM_018491.3	167	aCt/aAt	0	1	1	UPI000006EFDF	0	getma.org/pdb.php?prot=CBWD1_HUMAN&from=43&to=231&var=T167N	ENST00000356521		ENSG00000172785	17134		29	4.35		HGNC	p.T167N		CBWD1		SNV							ENST00000356521	protein_coding	getma.org/?cm=var&var=hg19,9,162460,G,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF02492,hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF38,Superfamily_domains:SSF52540		T/N		T	high	589/1703		getma.org/?cm=msa&ty=f&p=CBWD1_HUMAN&rb=43&re=231&var=T167N	deleterious(0.02)				YES	CBWD1,missense_variant,p.Thr167Asn,ENST00000377447,;CBWD1,missense_variant,p.Thr167Asn,ENST00000356521,NM_018491.3;CBWD1,missense_variant,p.Thr167Asn,ENST00000377400,;CBWD1,missense_variant,p.Thr131Asn,ENST00000314367,NM_001145355.1;CBWD1,missense_variant,p.Thr167Asn,ENST00000382447,NM_001145356.1;CBWD1,missense_variant,p.Thr131Asn,ENST00000431099,;CBWD1,non_coding_transcript_exon_variant,,ENST00000495302,;CBWD1,non_coding_transcript_exon_variant,,ENST00000465014,;CBWD1,non_coding_transcript_exon_variant,,ENST00000487575,;CBWD1,non_coding_transcript_exon_variant,,ENST00000498044,;CBWD1,upstream_gene_variant,,ENST00000489272,;							MODERATE	500/1188	T167N	CBWD1_HUMAN			Transcript		benign(0.429)	.	ENSP00000348915		CCDS6438.1			1	
PAX3	0	LGGM	GRCh37	2	223084953	223084953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	24	3	.	.	ENST00000392069.2:c.1079G>T	p.Arg360Met	p.R360M	ENST00000392069	NM_001127366.2	360	aGg/aTg	0	1		UPI0000131369	0	NA	ENST00000350526		ENSG00000135903	8617		27	2.045		HGNC	p.R360M		PAX3		SNV			1				ENST00000350526	protein_coding	getma.org/?cm=var&var=hg19,2,223084953,C,A&fts=all		hmmpanther:PTHR24329:SF307,hmmpanther:PTHR24329,Pfam_domain:PF12360		R/M		A	medium	1216/3610		getma.org/?cm=msa&ty=f&p=PAX3_HUMAN&rb=346&re=391&var=R360M	deleterious_low_confidence(0.02)					PAX3,missense_variant,p.Arg360Met,ENST00000350526,NM_181457.3;PAX3,missense_variant,p.Arg360Met,ENST00000392069,NM_001127366.2,NM_181458.3,NM_181459.3;PAX3,missense_variant,p.Arg360Met,ENST00000344493,NM_181461.3,NM_181460.3;PAX3,missense_variant,p.Arg360Met,ENST00000392070,;PAX3,missense_variant,p.Arg360Met,ENST00000336840,;PAX3,missense_variant,p.Arg359Met,ENST00000409551,;PAX3,non_coding_transcript_exon_variant,,ENST00000464706,;PAX3,non_coding_transcript_exon_variant,,ENST00000555548,;							MODERATE	1079/1440	R360M	PAX3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343052		CCDS42826.1			1	
SPTBN1	0	LGGM	GRCh37	2	54856132	54856132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	40	3	.	.	ENST00000356805.4:c.1861C>A	p.Gln621Lys	p.Q621K	ENST00000356805	NM_003128.2	621	Caa/Aaa	0	1	1	UPI0000DBEE4B	0	getma.org/pdb.php?prot=SPTB2_HUMAN&from=528&to=636&var=Q621K	ENST00000356805		ENSG00000115306	11275		43	1.15		HGNC	p.Q608K		SPTBN1		SNV							ENST00000333896	protein_coding	getma.org/?cm=var&var=hg19,2,54856132,C,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF226,SMART_domains:SM00150,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966		Q/K		A	low	2142/8482		getma.org/?cm=msa&ty=f&p=SPTB2_HUMAN&rb=528&re=636&var=Q621K	tolerated(0.23)	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN			YES	SPTBN1,missense_variant,p.Gln608Lys,ENST00000333896,NM_178313.2;SPTBN1,missense_variant,p.Gln621Lys,ENST00000356805,NM_003128.2;SPTBN1,missense_variant,p.Gln621Lys,ENST00000389980,;							MODERATE	1861/7095	Q621K	SPTB2_HUMAN			Transcript		benign(0.038)	.	ENSP00000349259		CCDS33198.1			1	
BOC	0	LGGM	GRCh37	3	112993380	112993380	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	19	3	.	.	ENST00000495514.1:c.1393G>T	p.Glu465Ter	p.E465*	ENST00000495514		465	Gag/Tag	0	1		UPI0000072E0E	0	NA	ENST00000355385		ENSG00000144857	17173		22	0		HGNC	p.E465X		BOC		SNV							ENST00000355385	protein_coding	getma.org/?cm=var&var=hg19,3,112993380,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11		E/*		T	NA	1732/4278		NA		C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,stop_gained,p.Glu465Ter,ENST00000495514,;BOC,stop_gained,p.Glu465Ter,ENST00000355385,NM_033254.2;BOC,stop_gained,p.Glu465Ter,ENST00000273395,;BOC,non_coding_transcript_exon_variant,,ENST00000497495,;BOC,downstream_gene_variant,,ENST00000477178,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,downstream_gene_variant,,ENST00000471963,;							HIGH	1393/3345	E465*	BOC_HUMAN			Transcript			.	ENSP00000347546		CCDS2971.1			1	
GABRB2	0	LGGM	GRCh37	5	160721178	160721178	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	37	3	.	.	ENST00000274547.2:c.1449T>C	p.Asp483=	p.D483=	ENST00000274547	NM_000813.2	483	gaT/gaC	0	1	1	UPI000002AA29	0		ENST00000274547		ENSG00000145864	4082		40			HGNC	p.D445D		GABRB2		SNV							ENST00000520240	protein_coding			hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Superfamily_domains:SSF90112,Prints_domain:PR01160		D		G		1667/7385				D1M715_HUMAN			YES	GABRB2,synonymous_variant,p.=,ENST00000274547,NM_000813.2,NM_021911.2;GABRB2,synonymous_variant,p.=,ENST00000393959,;GABRB2,synonymous_variant,p.=,ENST00000520240,;GABRB2,synonymous_variant,p.=,ENST00000353437,;GABRB2,synonymous_variant,p.=,ENST00000517901,;GABRB2,synonymous_variant,p.=,ENST00000517547,;							LOW	1449/1539		GBRB2_HUMAN			Transcript			.	ENSP00000274547		CCDS4355.1			1	
TLR9	0	LGGM	GRCh37	3	52263777	52263777	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	21	3	.	.	ENST00000305533.5:c.782G>T	p.Gly261Val	p.G261V	ENST00000305533	NM_007284.3	261	gGg/gTg	0	1		UPI0000001625	0	getma.org/pdb.php?prot=TWF2_HUMAN&from=184&to=313&var=G261V	ENST00000360658		ENSG00000239732	15633		24	2.335	3598	HGNC	p.G261V		TLR9		SNV							ENST00000305533	protein_coding	getma.org/?cm=var&var=hg19,3,52263777,C,A&fts=all						A	medium	-/3870		getma.org/?cm=msa&ty=f&p=TWF2_HUMAN&rb=184&re=313&var=G261V		C3W5P5_HUMAN			YES	TLR9,missense_variant,p.Gly122Val,ENST00000494383,;TWF2,missense_variant,p.Gly261Val,ENST00000305533,NM_007284.3;TLR9,5_prime_UTR_variant,,ENST00000597542,;TWF2,intron_variant,,ENST00000499914,;TLR9,upstream_gene_variant,,ENST00000360658,NM_017442.3;TLR9,missense_variant,p.Gly5Val,ENST00000478201,;TWF2,downstream_gene_variant,,ENST00000472755,;							MODIFIER	-/3099	G261V	TLR9_HUMAN			Transcript			.	ENSP00000353874		CCDS2848.1			1	
FBN2	0	LGGM	GRCh37	5	127636587	127636587	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	44	3	.	.	ENST00000508053.1:c.6088G>T	p.Gly2030Cys	p.G2030C	ENST00000508053		2030	Ggt/Tgt	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=2016&to=2054&var=G2030C	ENST00000262464		ENSG00000138829	3604		47	3.67		HGNC	p.G2030C		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127636587,C,A&fts=all		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:SSF57196		G/C		A	high	6527/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=2016&re=2054&var=G2030C	deleterious(0)					FBN2,missense_variant,p.Gly2030Cys,ENST00000508053,;FBN2,missense_variant,p.Gly2030Cys,ENST00000262464,NM_001999.3;							MODERATE	6088/8739	G2030C	FBN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262464		CCDS34222.1			1	
NHS	0	LGGM	GRCh37	X	17744414	17744414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	45	3	.	.	ENST00000380060.3:c.2125C>A	p.His709Asn	p.H709N	ENST00000380060	NM_198270.2	709	Cat/Aat	0	1	1	UPI00001DFBF3	0	NA	ENST00000380060		ENSG00000188158	7820		48	1.13		HGNC	p.H709N		NHS		SNV			1				ENST00000380060	protein_coding	getma.org/?cm=var&var=hg19,X,17744414,C,A&fts=all		hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039,Pfam_domain:PF15273		H/N		A	low	2463/8761		getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=H709N	tolerated(0.14)				YES	NHS,missense_variant,p.His709Asn,ENST00000380060,NM_198270.2;NHS,missense_variant,p.His553Asn,ENST00000398097,NM_001136024.2;NHS,downstream_gene_variant,,ENST00000485305,;							MODERATE	2125/4893	H709N	NHS_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000369400		CCDS14181.1			1	
PLXNA2	0	LGGM	GRCh37	1	208218554	208218554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	34	3	.	.	ENST00000367033.3:c.3497G>A	p.Gly1166Asp	p.G1166D	ENST00000367033	NM_025179.3	1166	gGc/gAc	0	1	1	UPI000022B239	0	NA	ENST00000367033		ENSG00000076356	9100		37	3.55		HGNC	p.G1166D		PLXNA2		SNV							ENST00000367033	protein_coding	getma.org/?cm=var&var=hg19,1,208218554,C,T&fts=all		hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Pfam_domain:PF01833,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296		G/D		T	high	4255/11444		getma.org/?cm=msa&ty=f&p=PLXA2_HUMAN&rb=1143&re=1228&var=G1166D	deleterious(0)				YES	PLXNA2,missense_variant,p.Gly1166Asp,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000463510,;							MODERATE	3497/5685	G1166D	PLXA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356000		CCDS31013.1			1	
KRT72	0	LGGM	GRCh37	12	52986181	52986181	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	23	3	.	.	ENST00000293745.2:c.797G>T	p.Gly266Val	p.G266V	ENST00000293745	NM_080747.2	266	gGg/gTg	0	1	1	UPI0000055AC8	0	getma.org/pdb.php?prot=K2C72_HUMAN&from=124&to=437&var=G266V	ENST00000293745		ENSG00000170486	28932		26	1.355		HGNC	p.G266V		KRT72		SNV							ENST00000293745	protein_coding	getma.org/?cm=var&var=hg19,12,52986181,C,A&fts=all		hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239,Pfam_domain:PF00038		G/V		A	low	883/2015		getma.org/?cm=msa&ty=f&p=K2C72_HUMAN&rb=124&re=437&var=G266V	deleterious(0.02)	B4DXK4_HUMAN			YES	KRT72,missense_variant,p.Gly266Val,ENST00000293745,NM_080747.2;KRT72,missense_variant,p.Gly266Val,ENST00000537672,NM_001146225.1;KRT72,missense_variant,p.Gly266Val,ENST00000354310,NM_001146226.1;KRT72,missense_variant,p.Gly78Val,ENST00000398066,;KRT72,splice_region_variant,,ENST00000550829,;							MODERATE	797/1536	G266V	K2C72_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000293745		CCDS8833.1			1	
HSPA4	0	LGGM	GRCh37	5	132412499	132412499	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	46	3	.	.	ENST00000304858.2:c.817C>A	p.Leu273Ile	p.L273I	ENST00000304858	NM_002154.3	273	Ctc/Atc	0	1	1	UPI000013E9D5	0	getma.org/pdb.php?prot=HSP74_HUMAN&from=3&to=607&var=L273I	ENST00000304858		ENSG00000170606	5237		49	2.855		HGNC	p.L273I		HSPA4		SNV							ENST00000304858	protein_coding	getma.org/?cm=var&var=hg19,5,132412499,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF136,Gene3D:3.90.640.10,Pfam_domain:PF00012,Superfamily_domains:SSF53067		L/I		A	medium	1106/4825		getma.org/?cm=msa&ty=f&p=HSP74_HUMAN&rb=3&re=607&var=L273I	deleterious(0.02)	Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN			YES	HSPA4,missense_variant,p.Leu273Ile,ENST00000304858,NM_002154.3;HSPA4,non_coding_transcript_exon_variant,,ENST00000504328,;							MODERATE	817/2523	L273I	HSP74_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000302961		CCDS4166.1			1	
AGT	0	LGGM	GRCh37	1	230846201	230846201	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	42	3	.	.	ENST00000366667.4:c.396C>A	p.Thr132=	p.T132=	ENST00000366667	NM_000029.3	132	acC/acA	0	1	1	UPI0000125B13	0		ENST00000366667		ENSG00000135744	333		45			HGNC	p.T132T	COSM905378	AGT		SNV			1			1	ENST00000366667	protein_coding			hmmpanther:PTHR11461:SF13,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		T		T		611/2291				B0ZBE2_HUMAN			YES	AGT,synonymous_variant,p.=,ENST00000366667,NM_000029.3;RP11-99J16__A.2,downstream_gene_variant,,ENST00000412344,;					1		LOW	396/1458		ANGT_HUMAN			Transcript			.	ENSP00000355627		CCDS1585.1			1	
OS9	0	LGGM	GRCh37	12	58113945	58113945	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	44	3	.	.	ENST00000315970.7:c.1664A>T	p.Gln555Leu	p.Q555L	ENST00000315970	NM_006812.3	555	cAg/cTg	0	1	1	UPI0000130EAC	0	NA	ENST00000315970		ENSG00000135506	16994		47	0.345		HGNC	p.Q540L		OS9		SNV							ENST00000389146	protein_coding	getma.org/?cm=var&var=hg19,12,58113945,A,T&fts=all		hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF1		Q/L		T	neutral	1705/2691		getma.org/?cm=msa&ty=f&p=OS9_HUMAN&rb=485&re=665&var=Q555L	tolerated(0.06)	Q9BR60_HUMAN			YES	OS9,missense_variant,p.Gln555Leu,ENST00000315970,NM_006812.3,NM_001017958.2;OS9,missense_variant,p.Gln540Leu,ENST00000389146,;OS9,intron_variant,,ENST00000257966,NM_001261420.1,NM_001017956.2;OS9,intron_variant,,ENST00000389142,NM_001017957.2;OS9,intron_variant,,ENST00000435406,NM_001261422.1;OS9,intron_variant,,ENST00000551035,NM_001261421.1;OS9,intron_variant,,ENST00000552285,;OS9,intron_variant,,ENST00000439210,NM_001261423.1;OS9,intron_variant,,ENST00000413095,;OS9,downstream_gene_variant,,ENST00000547079,;OS9,downstream_gene_variant,,ENST00000550372,;RP11-571M6.7,intron_variant,,ENST00000549477,;RP11-571M6.8,downstream_gene_variant,,ENST00000548410,;RP11-571M6.8,downstream_gene_variant,,ENST00000602413,;OS9,non_coding_transcript_exon_variant,,ENST00000549307,;OS9,upstream_gene_variant,,ENST00000546916,;OS9,downstream_gene_variant,,ENST00000553208,;OS9,downstream_gene_variant,,ENST00000552787,;OS9,downstream_gene_variant,,ENST00000550202,;OS9,downstream_gene_variant,,ENST00000550438,;OS9,downstream_gene_variant,,ENST00000550699,;							MODERATE	1664/2004	Q555L	OS9_HUMAN			Transcript		benign(0.097)	.	ENSP00000318165		CCDS31843.1			1	
GEMIN5	0	LGGM	GRCh37	5	154275827	154275827	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	43	3	.	.	ENST00000285873.7:c.3422G>T	p.Ser1141Ile	p.S1141I	ENST00000285873	NM_001252156.1	1141	aGc/aTc	0	1	1	UPI000020D072	0	NA	ENST00000285873		ENSG00000082516	20043		46	2.005		HGNC	p.S1141I		GEMIN5		SNV							ENST00000285873	protein_coding	getma.org/?cm=var&var=hg19,5,154275827,C,A&fts=all				S/I		A	medium	3498/5397		getma.org/?cm=msa&ty=f&p=GEMI5_HUMAN&rb=729&re=1505&var=S1141I	deleterious(0)	Q58EZ8_HUMAN			YES	GEMIN5,missense_variant,p.Ser1141Ile,ENST00000285873,NM_001252156.1,NM_015465.4;GEMIN5,upstream_gene_variant,,ENST00000522075,;							MODERATE	3422/4527	S1141I	GEMI5_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000285873		CCDS4330.1			1	
APOB	0	LGGM	GRCh37	2	21246505	21246505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	45	3	.	.	ENST00000233242.1:c.2496G>T	p.Met832Ile	p.M832I	ENST00000233242	NM_000384.2	832	atG/atT	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		48	2.42		HGNC	p.M832I		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21246505,C,A&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,Superfamily_domains:SSF56968		M/I		A	medium	2624/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=632&re=945&var=M832I		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Met832Ile,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;							MODERATE	2496/13692	M832I	APOB_HUMAN			Transcript		benign(0.003)	.	ENSP00000233242		CCDS1703.1			1	
EPHX3	0	LGGM	GRCh37	19	15341804	15341804	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	32	3	.	.	ENST00000221730.3:c.585G>T	p.Val195=	p.V195=	ENST00000221730	NM_024794.2	195	gtG/gtT	0	1	1	UPI000007047E	0		ENST00000221730		ENSG00000105131	23760		35			HGNC	p.V195V		EPHX3		SNV							ENST00000435261	protein_coding			hmmpanther:PTHR10992:SF277,hmmpanther:PTHR10992,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR00412		V		A		806/1822				M0QX48_HUMAN			YES	EPHX3,synonymous_variant,p.=,ENST00000221730,NM_024794.2;EPHX3,synonymous_variant,p.=,ENST00000602233,;EPHX3,synonymous_variant,p.=,ENST00000435261,NM_001142886.1;EPHX3,downstream_gene_variant,,ENST00000594042,;AC004257.3,downstream_gene_variant,,ENST00000602793,;							LOW	585/1083		EPHX3_HUMAN			Transcript			.	ENSP00000221730		CCDS12327.1			1	
AURKA	0	LGGM	GRCh37	20	54956580	54956580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	47	3	.	.	ENST00000312783.6:c.614G>T	p.Arg205Ile	p.R205I	ENST00000312783	NM_198436.1	205	aGa/aTa	0	1		UPI000013C70F	0	getma.org/pdb.php?prot=AURKA_HUMAN&from=133&to=383&var=R205I	ENST00000312783		ENSG00000087586	11393		50	1.255		HGNC	p.R205I		AURKA		SNV							ENST00000395913	protein_coding	getma.org/?cm=var&var=hg19,20,54956580,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24350,hmmpanther:PTHR24350:SF5,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/I		A	low	857/2223		getma.org/?cm=msa&ty=f&p=AURKA_HUMAN&rb=133&re=383&var=R205I	deleterious(0)	Q5QPD4_HUMAN,Q5QPD2_HUMAN,Q5QPD1_HUMAN,A3KFJ2_HUMAN,A3KFJ1_HUMAN				AURKA,missense_variant,p.Arg205Ile,ENST00000395909,NM_198433.1;AURKA,missense_variant,p.Arg205Ile,ENST00000347343,NM_003600.2;AURKA,missense_variant,p.Arg205Ile,ENST00000395914,NM_198434.1;AURKA,missense_variant,p.Arg205Ile,ENST00000312783,NM_198436.1;AURKA,missense_variant,p.Arg205Ile,ENST00000395913,;AURKA,missense_variant,p.Arg205Ile,ENST00000395911,;AURKA,missense_variant,p.Arg205Ile,ENST00000395915,NM_198437.1,NM_198435.1;AURKA,missense_variant,p.Arg205Ile,ENST00000371356,;AURKA,missense_variant,p.Arg205Ile,ENST00000395907,;AURKA,missense_variant,p.Arg205Ile,ENST00000441357,;AURKA,downstream_gene_variant,,ENST00000420474,;AURKA,downstream_gene_variant,,ENST00000456249,;AURKA,downstream_gene_variant,,ENST00000422322,;AURKA,downstream_gene_variant,,ENST00000451915,;							MODERATE	614/1212	R205I	AURKA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000321591		CCDS13451.1			1	
SACM1L	0	LGGM	GRCh37	3	45761047	45761047	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	36	3	.	.	ENST00000389061.5:c.633C>A	p.Ile211=	p.I211=	ENST00000389061	NM_014016.3	211	atC/atA	0	1	1	UPI000006EAA5	0		ENST00000389061		ENSG00000211456	17059		39			HGNC	p.I108I		SACM1L		SNV							ENST00000455997	protein_coding			Pfam_domain:PF02383,hmmpanther:PTHR11200,PROSITE_profiles:PS50275		I		A		837/3723				E9PGZ4_HUMAN,C9JV50_HUMAN			YES	SACM1L,synonymous_variant,p.=,ENST00000389061,NM_014016.3;SACM1L,synonymous_variant,p.=,ENST00000418611,;SACM1L,synonymous_variant,p.=,ENST00000541314,;SACM1L,synonymous_variant,p.=,ENST00000455997,;SACM1L,3_prime_UTR_variant,,ENST00000441228,;SACM1L,non_coding_transcript_exon_variant,,ENST00000463659,;							LOW	633/1764		SAC1_HUMAN			Transcript			.	ENSP00000373713		CCDS33745.1			1	
C3orf17	0	LGGM	GRCh37	3	112724724	112724724	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	24	3	.	.	ENST00000314400.5:c.1363A>G	p.Arg455Gly	p.R455G	ENST00000314400	NM_015412.3	455	Agg/Ggg	0	1	1	UPI0000367197	0	NA	ENST00000314400		ENSG00000163608	24496		27	1.645		HGNC	p.R319G		C3orf17		SNV							ENST00000393857	protein_coding	getma.org/?cm=var&var=hg19,3,112724724,T,C&fts=all		Low_complexity_(Seg):seg		R/G		C	low	1555/4992		getma.org/?cm=msa&ty=f&p=CC017_HUMAN&rb=36&re=565&var=R455G	tolerated(0.12)	C9J9E3_HUMAN,A8MVI8_HUMAN			YES	C3orf17,missense_variant,p.Arg455Gly,ENST00000314400,NM_015412.3;C3orf17,missense_variant,p.Arg385Gly,ENST00000383675,;C3orf17,missense_variant,p.Arg319Gly,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,;							MODERATE	1363/1704	R455G	CC017_HUMAN			Transcript		benign(0.082)	.	ENSP00000320251		CCDS33824.1			1	
KCTD20	0	LGGM	GRCh37	6	36446967	36446967	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	34	3	.	.	ENST00000373731.2:c.504A>G	p.Glu168=	p.E168=	ENST00000373731	NM_173562.3	168	gaA/gaG	0	1	1	UPI00001AADF6	0		ENST00000373731		ENSG00000112078	21052		37			HGNC	p.K77R		KCTD20		SNV							ENST00000265344	protein_coding			hmmpanther:PTHR21637,hmmpanther:PTHR21637:SF1,Pfam_domain:PF02214,Gene3D:3.30.710.10,SMART_domains:SM00225,Superfamily_domains:SSF54695		E		G		895/5619				F5H3T3_HUMAN,C9JY11_HUMAN,C9J624_HUMAN,C9J5B3_HUMAN,B4DIP9_HUMAN			YES	KCTD20,synonymous_variant,p.=,ENST00000373731,NM_173562.3;KCTD20,synonymous_variant,p.=,ENST00000536244,NM_001286580.1;KCTD20,5_prime_UTR_variant,,ENST00000544295,;KCTD20,intron_variant,,ENST00000449081,NM_001286579.1;KCTD20,downstream_gene_variant,,ENST00000460983,;KCTD20,downstream_gene_variant,,ENST00000483557,;KCTD20,downstream_gene_variant,,ENST00000498267,;KCTD20,intron_variant,,ENST00000474988,;KCTD20,missense_variant,p.Lys77Arg,ENST00000481911,;KCTD20,missense_variant,p.Lys77Arg,ENST00000265344,;							LOW	504/1260		KCD20_HUMAN			Transcript			.	ENSP00000362836		CCDS4821.1			1	
TANC2	0	LGGM	GRCh37	17	61086947	61086947	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	31	3	.	.	ENST00000424789.2:c.27G>T	p.Leu9=	p.L9=	ENST00000424789	NM_025185.3	9	ctG/ctT	0	1	1	UPI00015D57DF	0		ENST00000424789		ENSG00000170921	30212		34			HGNC	p.L9L		TANC2		SNV							ENST00000424789	protein_coding					L		T		31/11721							YES	TANC2,synonymous_variant,p.=,ENST00000424789,NM_025185.3;TANC2,synonymous_variant,p.=,ENST00000389520,;RP11-180P8.5,upstream_gene_variant,,ENST00000606304,;							LOW	27/5973		TANC2_HUMAN			Transcript			.	ENSP00000387593		CCDS45754.1			1	
RASSF3	0	LGGM	GRCh37	12	65085354	65085354	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	22	3	.	.	ENST00000542104.1:c.562G>T	p.Gly188Ter	p.G188*	ENST00000542104	NM_178169.3	188	Gga/Tga	0	1		UPI00000622AE	0	NA	ENST00000336061		ENSG00000153179	14271		25	0		HGNC	p.G188X		RASSF3		SNV							ENST00000336061	protein_coding	getma.org/?cm=var&var=hg19,12,65085354,G,T&fts=all		hmmpanther:PTHR22738,hmmpanther:PTHR22738:SF8,PROSITE_profiles:PS50951		G/*		T	NA	605/1030		NA		Q496A9_HUMAN				RASSF3,stop_gained,p.Gly188Ter,ENST00000542104,NM_178169.3;RASSF3,stop_gained,p.Gly188Ter,ENST00000336061,;AC025262.1,downstream_gene_variant,,ENST00000594966,;RASSF3,3_prime_UTR_variant,,ENST00000283172,;							HIGH	562/717	G188*	RASF3_HUMAN			Transcript			.	ENSP00000336616		CCDS8969.1			1	
ADAT1	0	LGGM	GRCh37	16	75642745	75642745	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	23	3	.	.	ENST00000307921.3:c.1185G>T	p.Gly395=	p.G395=	ENST00000307921	NM_012091.3	395	ggG/ggT	0	1	1	UPI000006FD70	0		ENST00000307921		ENSG00000065457	228		26			HGNC	p.G395G		ADAT1		SNV							ENST00000307921	protein_coding			Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,SMART_domains:SM00552		G		A		1331/1869				H3BU72_HUMAN,H3BP18_HUMAN			YES	ADAT1,synonymous_variant,p.=,ENST00000307921,NM_012091.3;ADAT1,synonymous_variant,p.=,ENST00000566450,;ADAT1,downstream_gene_variant,,ENST00000567281,;RP11-77K12.8,upstream_gene_variant,,ENST00000564489,;ADAT1,3_prime_UTR_variant,,ENST00000566445,;ADAT1,downstream_gene_variant,,ENST00000568001,;							LOW	1185/1509		ADAT1_HUMAN			Transcript			.	ENSP00000310015		CCDS10922.1			1	
SPATA31A3	0	LGGM	GRCh37	9	40702836	40702836	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	40	3	.	.	ENST00000356699.5:c.493C>T	p.Leu165=	p.L165=	ENST00000356699	NM_001083124.1	165	Ctg/Ttg	0	1	1	UPI00004588FC	0		ENST00000356699		ENSG00000147926	32003		43			HGNC	p.L165L	COSM608823,COSM608824	SPATA31A3		SNV						1,1	ENST00000356699	protein_coding			hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859		L		T		522/4223							YES	SPATA31A3,synonymous_variant,p.=,ENST00000356699,NM_001083124.1;RP11-395E19.5,downstream_gene_variant,,ENST00000432614,;SPATA31A3,non_coding_transcript_exon_variant,,ENST00000463536,;					1,1		LOW	493/4044		S31A3_HUMAN			Transcript			.	ENSP00000349132		CCDS47969.1			1	
DNMBP	0	LGGM	GRCh37	10	101716942	101716942	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	15	3	.	.	ENST00000324109.4:c.289G>T	p.Gly97Cys	p.G97C	ENST00000324109	NM_015221.2	97	Ggc/Tgc	0	1	1	UPI000013D6C9	0	getma.org/pdb.php?prot=DNMBP_HUMAN&from=70&to=124&var=G97C	ENST00000324109		ENSG00000107554	30373		18	1.87		HGNC	p.G97C		DNMBP		SNV							ENST00000342239	protein_coding	getma.org/?cm=var&var=hg19,10,101716942,C,A&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF07653,PROSITE_profiles:PS50002,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19,SMART_domains:SM00326,Superfamily_domains:SSF50044		G/C		A	low	381/6400		getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=70&re=124&var=G97C	deleterious(0)	B4E0Q3_HUMAN			YES	DNMBP,missense_variant,p.Gly97Cys,ENST00000342239,;DNMBP,missense_variant,p.Gly97Cys,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;							MODERATE	289/4734	G97C	DNMBP_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000315659		CCDS7485.1			1	
MUC2	0	LGGM	GRCh37	11	1090825	1090825	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	37	3	.	.	ENST00000441003.2:c.3720G>T	p.Trp1240Cys	p.W1240C	ENST00000441003	NM_002457.2	1240	tgG/tgT	0	1	1	UPI00006C10F2	0	NA	ENST00000441003		ENSG00000198788	7512		40	1.61		HGNC	p.W1240C		MUC2		SNV							ENST00000441003	protein_coding	getma.org/?cm=var&var=hg19,11,1090825,G,T&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261		W/C		T	low	3747/8637		getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=1119&re=1303&var=W1240C		Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Trp1240Cys,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Trp1241Cys,ENST00000359061,;MUC2,upstream_gene_variant,,ENST00000361558,;MUC2,upstream_gene_variant,,ENST00000333592,;							MODERATE	3720/8454	W1240C				Transcript		possibly_damaging(0.775)	.	ENSP00000415183					1	
CALCRL	0	LGGM	GRCh37	2	188216949	188216949	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	32	4	.	.	ENST00000409998.1:c.1020C>G	p.Ile340Met	p.I340M	ENST00000409998		340	atC/atG	0	1		UPI000013D4CD	0	NA	ENST00000392370		ENSG00000064989	16709		36	2.115		HGNC	p.I340M		CALCRL		SNV							ENST00000392370	protein_coding	getma.org/?cm=var&var=hg19,2,188216949,G,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF67,Pfam_domain:PF00002,Superfamily_domains:SSF81321,Prints_domain:PR00249		I/M		C	medium	1734/5155		getma.org/?cm=msa&ty=f&p=CALRL_HUMAN&rb=138&re=380&var=I340M	deleterious(0)	E7EN01_HUMAN,B8ZZJ4_HUMAN				CALCRL,missense_variant,p.Ile340Met,ENST00000409998,;CALCRL,missense_variant,p.Ile340Met,ENST00000392370,NM_005795.5;CALCRL,missense_variant,p.Ile340Met,ENST00000410068,NM_001271751.1;AC007319.1,intron_variant,,ENST00000412276,;AC007319.1,intron_variant,,ENST00000453517,;							MODERATE	1020/1386	I340M	CALRL_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000376177		CCDS2293.1			1	
MBD3L2	0	LGGM	GRCh37	19	7051529	7051529	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	43	4	.	.	ENST00000381393.3:c.523A>T	p.Ile175Phe	p.I175F	ENST00000381393	NM_144614.3	175	Atc/Ttc	0	1	1	UPI000059D64D	0	NA	ENST00000381393		ENSG00000230522	18532		47	2.05		HGNC	p.I175F		MBD3L2		SNV							ENST00000381393	protein_coding	getma.org/?cm=var&var=hg19,19,7051529,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14048,hmmpanther:PTHR12396		I/F		T	medium	576/793		getma.org/?cm=msa&ty=f&p=MB3L2_HUMAN&rb=100&re=193&var=I175F	deleterious(0)				YES	MBD3L2,missense_variant,p.Ile175Phe,ENST00000381393,NM_144614.3;MBD3L3,downstream_gene_variant,,ENST00000333843,NM_001164425.1;							MODERATE	523/627	I175F	MB3L2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370800		CCDS42483.1			1	
PRDM4	0	LGGM	GRCh37	12	108138456	108138456	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	35	4	.	.	ENST00000228437.5:c.1277-18G>T		*426*	ENST00000228437	NM_012406.3			0	1	1	UPI000013217D	0		ENST00000228437		ENSG00000110851	9348		39			HGNC	p.G172V		PRDM4		SNV							ENST00000550659	protein_coding							A		-/4210				F8VRG2_HUMAN			YES	PRDM4,missense_variant,p.Gly172Val,ENST00000550659,;PRDM4,intron_variant,,ENST00000228437,NM_012406.3;RP11-864J10.4,intron_variant,,ENST00000546714,;PRDM4,intron_variant,,ENST00000550376,;PRDM4,upstream_gene_variant,,ENST00000549416,;							MODIFIER	-/2406		PRDM4_HUMAN			Transcript			.	ENSP00000228437		CCDS9115.1			1	
FREM2	0	LGGM	GRCh37	13	39432141	39432141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	70	4	.	.	ENST00000280481.7:c.7186A>T	p.Met2396Leu	p.M2396L	ENST00000280481	NM_207361.4	2396	Atg/Ttg	0	1	1	UPI00005520B9	0	NA	ENST00000280481		ENSG00000150893	25396		74	-0.345		HGNC	p.M2396L		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39432141,A,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		M/L		T	neutral	7402/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=2359&re=3167&var=M2396L	tolerated(0.64)				YES	FREM2,missense_variant,p.Met2396Leu,ENST00000280481,NM_207361.4;							MODERATE	7186/9510	M2396L	FREM2_HUMAN			Transcript		benign(0)	.	ENSP00000280481		CCDS31960.1			1	
OR4K14	0	LGGM	GRCh37	14	20482598	20482598	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	25	4	.	.	ENST00000305045.2:c.755T>A	p.Phe252Tyr	p.F252Y	ENST00000305045	NM_001004712.1	252	tTt/tAt	0	1	1	UPI0000041CED	0	NA	ENST00000305045		ENSG00000169484	15352		29	0.835		HGNC	p.F252Y		OR4K14		SNV							ENST00000305045	protein_coding	getma.org/?cm=var&var=hg19,14,20482598,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF31,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		F/Y		T	low	755/934		getma.org/?cm=msa&ty=f&p=OR4KE_HUMAN&rb=140&re=281&var=F252Y	deleterious(0.01)				YES	OR4K14,missense_variant,p.Phe252Tyr,ENST00000305045,NM_001004712.1;							MODERATE	755/933	F252Y	OR4KE_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000305011		CCDS32027.1			1	
LRP5	0	LGGM	GRCh37	11	68183822	68183822	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	59	4	.	.	ENST00000294304.7:c.2854C>A	p.Gln952Lys	p.Q952K	ENST00000294304	NM_002335.2	952	Cag/Aag	0	1	1	UPI0000073246	0	getma.org/pdb.php?prot=LRP5_HUMAN&from=897&to=1096&var=Q952K	ENST00000294304		ENSG00000162337	6697		63	2.93		HGNC	p.Q952K		LRP5		SNV			1				ENST00000294304	protein_coding	getma.org/?cm=var&var=hg19,11,68183822,C,A&fts=all		Superfamily_domains:SSF63825,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529		Q/K		A	medium	2960/5159		getma.org/?cm=msa&ty=f&p=LRP5_HUMAN&rb=897&re=1096&var=Q952K	deleterious(0.01)	E9PHY1_HUMAN			YES	LRP5,missense_variant,p.Gln952Lys,ENST00000294304,NM_002335.2;LRP5,downstream_gene_variant,,ENST00000528714,;LRP5,3_prime_UTR_variant,,ENST00000529993,;							MODERATE	2854/4848	Q952K	LRP5_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000294304		CCDS8181.1			1	
PTX3	0	LGGM	GRCh37	3	157160759	157160759	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	32	4	.	.	ENST00000295927.3:c.1137T>C	p.Tyr379=	p.Y379=	ENST00000295927	NM_002852.3	379	taT/taC	0	1	1	UPI000013E2D6	0		ENST00000295927		ENSG00000163661	9692		36			HGNC	p.Y379Y		PTX3		SNV							ENST00000295927	protein_coding			Gene3D:2.60.120.200,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF28,SMART_domains:SM00159		Y		C		1282/1940							YES	PTX3,synonymous_variant,p.=,ENST00000295927,NM_002852.3;VEPH1,intron_variant,,ENST00000362010,NM_001167912.1;VEPH1,intron_variant,,ENST00000543418,NM_024621.2;VEPH1,intron_variant,,ENST00000392833,NM_001167911.1;VEPH1,intron_variant,,ENST00000392832,;VEPH1,intron_variant,,ENST00000479987,;							LOW	1137/1146		PTX3_HUMAN			Transcript			.	ENSP00000295927		CCDS3180.1			1	
MAPK1	0	LGGM	GRCh37	22	22160186	22160186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	54	4	.	.	ENST00000215832.6:c.445G>T	p.Asp149Tyr	p.D149Y	ENST00000215832	NM_002745.4	149	Gac/Tac	0	1	1	UPI000000104F	0	getma.org/pdb.php?prot=MK01_HUMAN&from=25&to=313&var=D149Y	ENST00000215832		ENSG00000100030	6871		58	4.61		HGNC	p.D149Y		MAPK1		SNV			1				ENST00000398822	protein_coding	getma.org/?cm=var&var=hg19,22,22160186,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF161,PROSITE_patterns:PS01351,PROSITE_patterns:PS00108,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/Y		A	high	634/11022		getma.org/?cm=msa&ty=f&p=MK01_HUMAN&rb=25&re=313&var=D149Y	deleterious(0)	Q1HBJ4_HUMAN,B4DHN0_HUMAN			YES	MAPK1,missense_variant,p.Asp149Tyr,ENST00000215832,NM_002745.4;MAPK1,missense_variant,p.Asp149Tyr,ENST00000398822,NM_138957.2;MAPK1,missense_variant,p.Asp149Tyr,ENST00000544786,;							MODERATE	445/1083	D149Y	MK01_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000215832		CCDS13795.1			1	
FAM179A	0	LGGM	GRCh37	2	29225550	29225550	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	21	4	.	.	ENST00000379558.4:c.576G>C	p.Glu192Asp	p.E192D	ENST00000379558	NM_199280.2	192	gaG/gaC	0	1	1	UPI00014F7B81	0	NA	ENST00000379558		ENSG00000189350	33715		25	0.46		HGNC	p.E192D		FAM179A		SNV							ENST00000403861	protein_coding	getma.org/?cm=var&var=hg19,2,29225550,G,C&fts=all		hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567		E/D		C	neutral	927/12691		getma.org/?cm=msa&ty=f&p=F179A_HUMAN&rb=35&re=234&var=E192D	tolerated(0.21)	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN			YES	FAM179A,missense_variant,p.Glu192Asp,ENST00000379558,NM_199280.2;FAM179A,missense_variant,p.Glu192Asp,ENST00000403861,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,downstream_gene_variant,,ENST00000420297,;							MODERATE	576/3060	E192D	F179A_HUMAN			Transcript		benign(0.029)	.	ENSP00000368876		CCDS1769.2			1	
MYLK	0	LGGM	GRCh37	3	123426714	123426714	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	20	4	.	.	ENST00000360304.3:c.2277A>G	p.Lys759=	p.K759=	ENST00000360304	NM_053025.3	759	aaA/aaG	0	1	1	UPI000020A0AE	0		ENST00000360304		ENSG00000065534	7590		24			HGNC	p.K759K		MYLK		SNV			1				ENST00000360772	protein_coding			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		K		C		2559/7834				Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN			YES	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.=,ENST00000346322,NM_053026.3;MYLK,synonymous_variant,p.=,ENST00000475616,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,downstream_gene_variant,,ENST00000514623,;							LOW	2277/5745		MYLK_HUMAN			Transcript			.	ENSP00000353452		CCDS46896.1			1	
ZBBX	0	LGGM	GRCh37	3	166958681	166958681	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	40	5	.	.	ENST00000455345.2:c.2420A>T	p.Gln807Leu	p.Q807L	ENST00000455345		807	cAg/cTg	0	1		UPI000020A743	0	NA	ENST00000392766		ENSG00000169064	26245		45	1.39		HGNC	p.Q807L		ZBBX		SNV							ENST00000307529	protein_coding	getma.org/?cm=var&var=hg19,3,166958681,T,A&fts=all				Q/L		A	low	2644/3250		getma.org/?cm=msa&ty=f&p=ZBBX_HUMAN&rb=331&re=799&var=Q768L	deleterious(0.02)	F2Z370_HUMAN,C9JVV2_HUMAN				ZBBX,missense_variant,p.Gln768Leu,ENST00000392766,NM_001199201.1,NM_024687.3;ZBBX,missense_variant,p.Gln807Leu,ENST00000455345,;ZBBX,missense_variant,p.Gln807Leu,ENST00000307529,;ZBBX,missense_variant,p.Gln768Leu,ENST00000392767,;ZBBX,missense_variant,p.Gln739Leu,ENST00000392764,NM_001199202.1;ZBBX,3_prime_UTR_variant,,ENST00000494898,;ZBBX,3_prime_UTR_variant,,ENST00000492642,;ZBBX,3_prime_UTR_variant,,ENST00000464922,;ZBBX,non_coding_transcript_exon_variant,,ENST00000465071,;							MODERATE	2303/2403	Q768L	ZBBX_HUMAN			Transcript		possibly_damaging(0.572)	.	ENSP00000376519		CCDS3199.2			1	
TPBG	0	LGGM	GRCh37	6	83075282	83075282	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	61	5	.	.	ENST00000369750.3:c.604G>T	p.Ala202Ser	p.A202S	ENST00000369750		202	Gcc/Tcc	0	1	1	UPI000004CAD5	0	NA	ENST00000369750		ENSG00000146242	12004		66	0		HGNC	p.A202S		TPBG		SNV							ENST00000535040	protein_coding	getma.org/?cm=var&var=hg19,6,83075282,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24364,Superfamily_domains:SSF52058		A/S		T	neutral	1221/6484		getma.org/?cm=msa&ty=f&p=TPBG_HUMAN&rb=168&re=209&var=A202S	tolerated(0.29)	A8K555_HUMAN			YES	TPBG,missense_variant,p.Ala202Ser,ENST00000369750,;TPBG,missense_variant,p.Ala202Ser,ENST00000535040,NM_006670.4;TPBG,missense_variant,p.Ala202Ser,ENST00000543496,NM_001166392.1;							MODERATE	604/1263	A202S	TPBG_HUMAN			Transcript		benign(0.02)	.	ENSP00000358765		CCDS4995.1			1	
AFG3L2	0	LGGM	GRCh37	18	12329742	12329742	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	38	5	.	.	ENST00000269143.3:c.2216A>T	p.Asn739Ile	p.N739I	ENST00000269143	NM_006796.2	739	aAt/aTt	0	1	1	UPI000013D7FF	0	getma.org/pdb.php?prot=AFG32_HUMAN&from=541&to=744&var=N739I	ENST00000269143		ENSG00000141385	315		43	0.925		HGNC	p.N739I		AFG3L2		SNV			1				ENST00000269143	protein_coding	getma.org/?cm=var&var=hg19,18,12329742,T,A&fts=all		HAMAP:MF_01458,Pfam_domain:PF01434,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF45,Superfamily_domains:SSF140990,TIGRFAM_domain:TIGR01241		N/I		A	low	2448/3247		getma.org/?cm=msa&ty=f&p=AFG32_HUMAN&rb=541&re=744&var=N739I	deleterious(0.03)	D3DUJ0_HUMAN			YES	AFG3L2,missense_variant,p.Asn739Ile,ENST00000269143,NM_006796.2;TUBB6,3_prime_UTR_variant,,ENST00000591909,;TUBB6,intron_variant,,ENST00000590967,;TUBB6,intron_variant,,ENST00000586691,;TUBB6,downstream_gene_variant,,ENST00000317702,;TUBB6,downstream_gene_variant,,ENST00000591208,NM_032525.1;TUBB6,downstream_gene_variant,,ENST00000590103,;TUBB6,downstream_gene_variant,,ENST00000586653,;TUBB6,downstream_gene_variant,,ENST00000590693,;TUBB6,downstream_gene_variant,,ENST00000591463,;TUBB6,downstream_gene_variant,,ENST00000592683,;TUBB6,downstream_gene_variant,,ENST00000417736,;TUBB6,downstream_gene_variant,,ENST00000586810,;TUBB6,downstream_gene_variant,,ENST00000590388,;							MODERATE	2216/2394	N739I	AFG32_HUMAN			Transcript		benign(0.093)	.	ENSP00000269143		CCDS11859.1			1	
NRCAM	0	LGGM	GRCh37	7	107816876	107816876	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	82	5	.	.	ENST00000379028.3:c.3150A>C	p.Glu1050Asp	p.E1050D	ENST00000379028		1050	gaA/gaC	0	1	1	UPI00005E2661	0	NA	ENST00000379028		ENSG00000091129	7994		87	2.16		HGNC	p.E1050D		NRCAM		SNV							ENST00000379022	protein_coding	getma.org/?cm=var&var=hg19,7,107816876,T,G&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF554,hmmpanther:PTHR10489		E/D		G	medium	3621/6659		getma.org/?cm=msa&ty=f&p=NRCAM_HUMAN&rb=1011&re=1097&var=E1050D	deleterious(0.01)	C9JUR7_HUMAN,C9JF43_HUMAN,B3KRX0_HUMAN			YES	NRCAM,missense_variant,p.Glu1050Asp,ENST00000379028,;NRCAM,missense_variant,p.Glu1031Asp,ENST00000413765,;NRCAM,missense_variant,p.Glu1034Asp,ENST00000351718,NM_005010.4;NRCAM,missense_variant,p.Glu1031Asp,ENST00000379024,NM_001193582.1,NM_001193584.1,NM_001193583.1;NRCAM,missense_variant,p.Glu1050Asp,ENST00000379022,;NRCAM,missense_variant,p.Glu1050Asp,ENST00000425651,NM_001037132.2;NRCAM,upstream_gene_variant,,ENST00000445634,;NRCAM,splice_region_variant,,ENST00000465585,;NRCAM,splice_region_variant,,ENST00000415105,;							MODERATE	3150/3915	E1050D	NRCAM_HUMAN			Transcript		possibly_damaging(0.763)	.	ENSP00000368314		CCDS47686.1			1	
FAT2	0	LGGM	GRCh37	5	150923868	150923868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	38	5	.	.	ENST00000261800.5:c.6820C>A	p.Gln2274Lys	p.Q2274K	ENST00000261800	NM_001447.2	2274	Caa/Aaa	0	1	1	UPI0000055B22	0	getma.org/pdb.php?prot=FAT2_HUMAN&from=2273&to=2379&var=Q2274K	ENST00000261800		ENSG00000086570	3596		43	1.19		HGNC	p.Q2274K		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150923868,G,T&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,Superfamily_domains:SSF49313		Q/K		T	low	6833/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=2273&re=2379&var=Q2274K					YES	FAT2,missense_variant,p.Gln2274Lys,ENST00000261800,NM_001447.2;							MODERATE	6820/13050	Q2274K	FAT2_HUMAN			Transcript		benign(0.061)	.	ENSP00000261800		CCDS4317.1			1	
ULBP2	0	LGGM	GRCh37	6	150267621	150267621	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	82	5	.	.	ENST00000367351.3:c.463A>G	p.Lys155Glu	p.K155E	ENST00000367351	NM_025217.2	155	Aag/Gag	0	1	1	UPI0000048F60	0	getma.org/pdb.php?prot=N2DL2_HUMAN&from=29&to=205&var=K155E	ENST00000367351		ENSG00000131015	14894		87	0.695		HGNC	p.K155E		ULBP2		SNV							ENST00000367351	protein_coding	getma.org/?cm=var&var=hg19,6,150267621,A,G&fts=all		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF148,Gene3D:3.30.500.10,Pfam_domain:PF00129,Superfamily_domains:SSF54452		K/E		G	neutral	536/1349		getma.org/?cm=msa&ty=f&p=N2DL2_HUMAN&rb=29&re=205&var=K155E	deleterious(0)	Q8IZX9_HUMAN,J7HHH7_HUMAN,J7HBC7_HUMAN			YES	ULBP2,missense_variant,p.Lys155Glu,ENST00000367351,NM_025217.2;							MODERATE	463/741	K155E	N2DL2_HUMAN			Transcript		benign(0.158)	.	ENSP00000356320		CCDS5222.1			1	
PTPRJ	0	LGGM	GRCh37	11	48166637	48166637	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	68	5	.	.	ENST00000418331.2:c.2872A>G	p.Ser958Gly	p.S958G	ENST00000418331	NM_002843.3	958	Agt/Ggt	0	1	1	UPI00004564C8	0	NA	ENST00000418331		ENSG00000149177	9673		73	1.265		HGNC	p.S958G		PTPRJ		SNV							ENST00000418331	protein_coding	getma.org/?cm=var&var=hg19,11,48166637,A,G&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211		S/G		G	low	3224/5122		getma.org/?cm=msa&ty=f&p=PTPRJ_HUMAN&rb=910&re=1064&var=S958G	deleterious(0.05)	Q9NPR5_HUMAN			YES	PTPRJ,missense_variant,p.Ser958Gly,ENST00000418331,NM_002843.3;PTPRJ,non_coding_transcript_exon_variant,,ENST00000527026,;							MODERATE	2872/4014	S958G	PTPRJ_HUMAN			Transcript		benign(0.144)	.	ENSP00000400010		CCDS7945.1			1	
FBXL7	0	LGGM	GRCh37	5	15928559	15928559	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	70	6	.	.	ENST00000504595.1:c.688G>T	p.Val230Phe	p.V230F	ENST00000504595	NM_012304.4	230	Gtc/Ttc	0	1	1	UPI00000724E0	0	NA	ENST00000504595		ENSG00000183580	13604		76	2.545		HGNC	p.V183F		FBXL7		SNV							ENST00000510662	protein_coding	getma.org/?cm=var&var=hg19,5,15928559,G,T&fts=all		hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047		V/F		T	medium	1169/4562		getma.org/?cm=msa&ty=f&p=FBXL7_HUMAN&rb=160&re=236&var=V230F	deleterious(0.01)	J3KNM9_HUMAN,D6RDY7_HUMAN			YES	FBXL7,missense_variant,p.Val230Phe,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.Val183Phe,ENST00000510662,NM_001278317.1;FBXL7,missense_variant,p.Val218Phe,ENST00000329673,;							MODERATE	688/1476	V230F	FBXL7_HUMAN			Transcript		benign(0.083)	.	ENSP00000423630		CCDS54833.1			1	
RABGAP1L	0	LGGM	GRCh37	1	174200330	174200330	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	65	7	.	.	ENST00000251507.4:c.379G>A	p.Asp127Asn	p.D127N	ENST00000251507	NM_014857.4	127	Gat/Aat	0	1	1	UPI0000458A9F	0	NA	ENST00000251507		ENSG00000152061	24663		72	1.445		HGNC	p.D127N		RABGAP1L		SNV							ENST00000457696	protein_coding	getma.org/?cm=var&var=hg19,1,174200330,G,A&fts=all		Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729		D/N		A	low	553/2899		getma.org/?cm=msa&ty=f&p=RBG1L_HUMAN&rb=126&re=282&var=D127N	tolerated(0.07)	F1LJ00_HUMAN			YES	RABGAP1L,missense_variant,p.Asp127Asn,ENST00000251507,NM_014857.4;RABGAP1L,missense_variant,p.Asp90Asn,ENST00000357444,;RABGAP1L,missense_variant,p.Asp127Asn,ENST00000457696,;RABGAP1L,5_prime_UTR_variant,,ENST00000367689,;RABGAP1L,upstream_gene_variant,,ENST00000529474,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000487987,;							MODERATE	379/2448	D127N	RBG1L_HUMAN			Transcript		benign(0.037)	.	ENSP00000251507		CCDS1314.1			1	
ZNF814	0	LGGM	GRCh37	19	58384413	58384413	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	54	7	.	.	ENST00000435989.2:c.2345C>A	p.Ala782Asp	p.A782D	ENST00000435989	NM_001144989.1	782	gCt/gAt	0	1	1	UPI0001662BAD	0	getma.org/pdb.php?prot=ZN814_HUMAN&from=761&to=783&var=A782D	ENST00000435989		ENSG00000204514	33258		61	0.9		HGNC	p.A782D		ZNF814		SNV							ENST00000435989	protein_coding	getma.org/?cm=var&var=hg19,19,58384413,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF3,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/D		T	low	2580/3146		getma.org/?cm=msa&ty=f&p=ZN814_HUMAN&rb=741&re=803&var=A782D	tolerated(0.17)				YES	ZNF814,missense_variant,p.Ala782Asp,ENST00000435989,NM_001144989.1;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF814,intron_variant,,ENST00000600634,;ZNF814,intron_variant,,ENST00000595048,;ZNF814,downstream_gene_variant,,ENST00000597807,;CTD-2583A14.8,upstream_gene_variant,,ENST00000597780,;ZNF814,intron_variant,,ENST00000594629,;CTD-2583A14.11,downstream_gene_variant,,ENST00000604665,;ZNF814,intron_variant,,ENST00000597348,;ZNF814,intron_variant,,ENST00000595894,;ZNF814,upstream_gene_variant,,ENST00000594159,;CTD-2583A14.9,downstream_gene_variant,,ENST00000602124,;CTD-2583A14.11,downstream_gene_variant,,ENST00000603829,;							MODERATE	2345/2568	A782D	ZN814_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000410545		CCDS46212.1			1	
KBTBD4	0	LGGM	GRCh37	11	47594712	47594712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	30	7	.	.	ENST00000430070.2:c.1375T>C	p.Cys459Arg	p.C459R	ENST00000430070	NM_018095.4	459	Tgc/Cgc	0	1		UPI000007169E	0	NA	ENST00000395288		ENSG00000123444	23761		37	0.69		HGNC	p.C443R		KBTBD4		SNV							ENST00000395288	protein_coding	getma.org/?cm=var&var=hg19,11,47594712,A,G&fts=all		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF24,Gene3D:1zgkA00,Superfamily_domains:0052715		C/R		G	neutral	1498/2460		getma.org/?cm=msa&ty=f&p=KBTB4_HUMAN&rb=245&re=444&var=C443R	deleterious(0)	E9PJY1_HUMAN,E9PJ66_HUMAN				KBTBD4,missense_variant,p.Cys468Arg,ENST00000533290,;KBTBD4,missense_variant,p.Cys443Arg,ENST00000395288,NM_016506.5;KBTBD4,missense_variant,p.Cys443Arg,ENST00000526005,;KBTBD4,missense_variant,p.Cys459Arg,ENST00000430070,NM_018095.4;PTPMT1,downstream_gene_variant,,ENST00000534775,;PTPMT1,downstream_gene_variant,,ENST00000426530,NM_001143984.1;KBTBD4,downstream_gene_variant,,ENST00000525720,;PTPMT1,downstream_gene_variant,,ENST00000326656,;PTPMT1,downstream_gene_variant,,ENST00000326674,NM_175732.2;KBTBD4,downstream_gene_variant,,ENST00000529499,;KBTBD4,downstream_gene_variant,,ENST00000531067,;KBTBD4,upstream_gene_variant,,ENST00000450908,;KBTBD4,downstream_gene_variant,,ENST00000534239,;KBTBD4,downstream_gene_variant,,ENST00000529946,;RNU5E-10P,downstream_gene_variant,,ENST00000363506,;PTPMT1,non_coding_transcript_exon_variant,,ENST00000527079,;NDUFS3,intron_variant,,ENST00000533507,;KBTBD4,downstream_gene_variant,,ENST00000530668,;							MODERATE	1327/1557	C443R	KBTB4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000378703		CCDS7940.1			1	
CEP152	0	LGGM	GRCh37	15	49037163	49037163	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	50	7	.	.	ENST00000380950.2:c.3661T>C	p.Leu1221=	p.L1221=	ENST00000380950	NM_001194998.1	1221	Tta/Cta	0	1	1	UPI00002378C4	0		ENST00000380950		ENSG00000103995	29298		57			HGNC	p.L1128L		CEP152		SNV			1				ENST00000325747	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF6		L		G		3849/5635				H0YN91_HUMAN			YES	CEP152,synonymous_variant,p.=,ENST00000380950,NM_001194998.1,NM_014985.3;CEP152,synonymous_variant,p.=,ENST00000399334,;CEP152,synonymous_variant,p.=,ENST00000325747,;CEP152,upstream_gene_variant,,ENST00000561245,;							LOW	3661/5133		CE152_HUMAN			Transcript			.	ENSP00000370337		CCDS58361.1			1	
AKAP12	0	LGGM	GRCh37	6	151670121	151670121	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	94	8	.	.	ENST00000402676.2:c.595C>G	p.Leu199Val	p.L199V	ENST00000402676	NM_005100.3	199	Ctc/Gtc	0	1		UPI000013CDC7	0	NA	ENST00000253332		ENSG00000131016	370		102	1.895		HGNC	p.L199V		AKAP12		SNV							ENST00000253332	protein_coding	getma.org/?cm=var&var=hg19,6,151670121,C,G&fts=all		hmmpanther:PTHR23209		L/V		G	low	784/6597		getma.org/?cm=msa&ty=f&p=AKA12_HUMAN&rb=1&re=200&var=L199V	deleterious(0)					AKAP12,missense_variant,p.Leu199Val,ENST00000402676,NM_005100.3;AKAP12,missense_variant,p.Leu199Val,ENST00000253332,;AKAP12,missense_variant,p.Leu101Val,ENST00000354675,NM_144497.2;AKAP12,missense_variant,p.Leu94Val,ENST00000359755,;snoU13,upstream_gene_variant,,ENST00000458767,;AKAP12,non_coding_transcript_exon_variant,,ENST00000490177,;							MODERATE	595/5349	L199V	AKA12_HUMAN			Transcript		possibly_damaging(0.683)	.	ENSP00000253332		CCDS5229.1			1	
CHL1	0	LGGM	GRCh37	3	432404	432404	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	98	8	.	.	ENST00000256509.2:c.2491A>T	p.Ile831Phe	p.I831F	ENST00000256509	NM_001253388.1	831	Atc/Ttc	0	1		UPI0000E08093	0	getma.org/pdb.php?prot=CHL1_HUMAN&from=811&to=904&var=I815F	ENST00000397491		ENSG00000134121	1939		106	1.39		HGNC	p.I831F		CHL1		SNV			1				ENST00000256509	protein_coding	getma.org/?cm=var&var=hg19,3,432404,A,T&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,PROSITE_profiles:PS50853		I/F		T	low	2910/5235		getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=811&re=904&var=I815F	tolerated(0.57)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN				CHL1,missense_variant,p.Ile831Phe,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Ile815Phe,ENST00000397491,;CHL1,missense_variant,p.Ile18Phe,ENST00000445697,;CHL1-AS1,upstream_gene_variant,,ENST00000417612,;CHL1,downstream_gene_variant,,ENST00000470880,;CHL1,3_prime_UTR_variant,,ENST00000453040,;							MODERATE	2443/3627	I815F	CHL1_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000380628		CCDS58812.1			1	
SLC29A2	0	LGGM	GRCh37	11	66135020	66135020	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	35	9	.	.	ENST00000357440.2:c.649-1G>T		p.X217_splice	ENST00000357440	NM_001532.2			0	1	1	UPI000013F0E7	0		ENST00000357440		ENSG00000174669	11004		44			HGNC	-		SLC29A2		SNV							ENST00000311161	protein_coding							A		-/2514							YES	SLC29A2,splice_acceptor_variant,,ENST00000357440,NM_001532.2;SLC29A2,splice_acceptor_variant,,ENST00000546034,;SLC29A2,splice_acceptor_variant,,ENST00000544554,;SLC29A2,splice_acceptor_variant,,ENST00000311161,;RP11-867G23.8,downstream_gene_variant,,ENST00000531602,;RP11-867G23.8,downstream_gene_variant,,ENST00000580881,;SLC29A2,splice_acceptor_variant,,ENST00000540386,;SLC29A2,splice_acceptor_variant,,ENST00000541567,;							HIGH	649/1371		S29A2_HUMAN			Transcript			.	ENSP00000350024		CCDS8137.1			1	
PTPRB	0	LGGM	GRCh37	12	70974829	70974829	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	93	9	.	.	ENST00000334414.6:c.2565G>A	p.Val855=	p.V855=	ENST00000334414	NM_001109754.2	855	gtG/gtA	0	1		UPI00001FC788	0		ENST00000261266		ENSG00000127329	9665		102			HGNC	p.V855V		PTPRB		SNV							ENST00000334414	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,Superfamily_domains:SSF49265		V		T		1941/6110								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,synonymous_variant,p.=,ENST00000551525,;PTPRB,synonymous_variant,p.=,ENST00000548122,;PTPRB,downstream_gene_variant,,ENST00000538174,;							LOW	1911/5994		PTPRB_HUMAN			Transcript			.	ENSP00000261266		CCDS44944.1			1	
ZC3H13	0	LGGM	GRCh37	13	46539502	46539502	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	109	9	.	.	ENST00000282007.3:c.4387G>C	p.Glu1463Gln	p.E1463Q	ENST00000282007	NM_015070.3	1463	Gag/Cag	0	1		UPI000046F8EB	0	NA	ENST00000242848		ENSG00000123200	20368		118	1.78		HGNC	p.E1462Q		ZC3H13		SNV							ENST00000242848	protein_coding	getma.org/?cm=var&var=hg19,13,46539502,C,G&fts=all		hmmpanther:PTHR13585,hmmpanther:PTHR13585:SF2		E/Q		G	low	4733/8018		getma.org/?cm=msa&ty=f&p=ZC3HD_HUMAN&rb=1264&re=1463&var=E1462Q		F8W781_HUMAN				ZC3H13,missense_variant,p.Glu1462Gln,ENST00000242848,;ZC3H13,missense_variant,p.Glu1463Gln,ENST00000282007,NM_015070.3;ZC3H13,missense_variant,p.Glu418Gln,ENST00000378921,;							MODERATE	4384/5007	E1462Q	ZC3HD_HUMAN			Transcript		unknown(0)	.	ENSP00000242848					1	
C12orf40	0	LGGM	GRCh37	12	40076644	40076644	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	59	9	.	.	ENST00000324616.5:c.918T>C	p.Asn306=	p.N306=	ENST00000324616	NM_001031748.2	306	aaT/aaC	0	1	1	UPI000069A925	0		ENST00000324616		ENSG00000180116	26846		68			HGNC	p.N306N		C12orf40		SNV							ENST00000324616	protein_coding			Pfam_domain:PF15089		N		C		1072/2776							YES	C12orf40,synonymous_variant,p.=,ENST00000324616,NM_001031748.2;C12orf40,synonymous_variant,p.=,ENST00000405531,;C12orf40,synonymous_variant,p.=,ENST00000398716,;C12orf40,synonymous_variant,p.=,ENST00000468200,;							LOW	918/1959		CL040_HUMAN			Transcript			.	ENSP00000317671		CCDS41770.1			1	
DBR1	0	LGGM	GRCh37	3	137889010	137889010	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	78	9	.	.	ENST00000260803.4:c.428A>G	p.Asn143Ser	p.N143S	ENST00000260803	NM_016216.3	143	aAt/aGt	0	1	1	UPI000006DFC5	0	NA	ENST00000260803		ENSG00000138231	15594		87	0.585		HGNC	p.N143S		DBR1		SNV							ENST00000260803	protein_coding	getma.org/?cm=var&var=hg19,3,137889010,T,C&fts=all		hmmpanther:PTHR12849,Pfam_domain:PF00149,Gene3D:3.60.21.10,Superfamily_domains:SSF56300		N/S		C	neutral	582/2666		getma.org/?cm=msa&ty=f&p=DBR1_HUMAN&rb=1&re=230&var=N143S	tolerated(0.22)	F5GWV2_HUMAN			YES	DBR1,missense_variant,p.Asn143Ser,ENST00000260803,NM_016216.3;DBR1,5_prime_UTR_variant,,ENST00000505015,;DBR1,downstream_gene_variant,,ENST00000463982,;DBR1,intron_variant,,ENST00000477557,;							MODERATE	428/1635	N143S	DBR1_HUMAN			Transcript		benign(0.038)	.	ENSP00000260803		CCDS33863.1			1	
POLE2	0	LGGM	GRCh37	14	50122554	50122554	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	119	10	.	.	ENST00000216367.5:c.763T>C	p.Tyr255His	p.Y255H	ENST00000216367	NM_002692.3	255	Tat/Cat	0	1	1	UPI0000129744	0	NA	ENST00000216367		ENSG00000100479	9178		129	1.15		HGNC	p.Y255H		POLE2		SNV							ENST00000216367	protein_coding	getma.org/?cm=var&var=hg19,14,50122554,A,G&fts=all		PIRSF_domain:PIRSF000799,hmmpanther:PTHR12708,hmmpanther:PTHR12708:SF0		Y/H		G	low	863/1776		getma.org/?cm=msa&ty=f&p=DPOE2_HUMAN&rb=75&re=274&var=Y255H	deleterious(0)				YES	POLE2,missense_variant,p.Tyr229His,ENST00000539565,NM_001197330.1;POLE2,missense_variant,p.Tyr255His,ENST00000216367,NM_002692.3;POLE2,missense_variant,p.Tyr255His,ENST00000554396,NM_001197331.1;POLE2,non_coding_transcript_exon_variant,,ENST00000556584,;POLE2,upstream_gene_variant,,ENST00000556937,;POLE2,upstream_gene_variant,,ENST00000554377,;POLE2,upstream_gene_variant,,ENST00000554851,;POLE2,upstream_gene_variant,,ENST00000553850,;							MODERATE	763/1584	Y255H	DPOE2_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000216367		CCDS32073.1			1	
ADAR	0	LGGM	GRCh37	1	154561031	154561031	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	55	10	.	.	ENST00000368474.4:c.2881A>G	p.Ile961Val	p.I961V	ENST00000368474	NM_001111.4	961	Atc/Gtc	0	1	1	UPI000045626B	0	getma.org/pdb.php?prot=DSRAD_HUMAN&from=886&to=1217&var=I961V	ENST00000368474		ENSG00000160710	225		65	0.985		HGNC	p.I1004V		ADAR		SNV			1				ENST00000292205	protein_coding	getma.org/?cm=var&var=hg19,1,154561031,T,C&fts=all		Pfam_domain:PF02137,PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,SMART_domains:SM00552		I/V		C	low	3081/6620		getma.org/?cm=msa&ty=f&p=DSRAD_HUMAN&rb=886&re=1217&var=I961V	tolerated(0.21)				YES	ADAR,missense_variant,p.Ile961Val,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,missense_variant,p.Ile1004Val,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,missense_variant,p.Ile666Val,ENST00000368471,;ADAR,missense_variant,p.Ile930Val,ENST00000529168,;ADAR,non_coding_transcript_exon_variant,,ENST00000534279,;ADAR,upstream_gene_variant,,ENST00000492630,;ADAR,upstream_gene_variant,,ENST00000530954,;							MODERATE	2881/3681	I961V	DSRAD_HUMAN			Transcript		possibly_damaging(0.51)	.	ENSP00000357459		CCDS1071.1			1	
RBAK	0	LGGM	GRCh37	7	5097032	5097032	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	132	11	.	.	ENST00000396904.2:c.122A>G	p.Tyr41Cys	p.Y41C	ENST00000396904	NM_001204513.1	41	tAt/tGt	0	1		UPI000004A03E	0	getma.org/pdb.php?prot=RBAK_HUMAN&from=8&to=48&var=Y41C	ENST00000353796		ENSG00000146587	17680		143	2.935		HGNC	p.Y41C		RBAK		SNV							ENST00000407184	protein_coding	getma.org/?cm=var&var=hg19,7,5097032,A,G&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24392,hmmpanther:PTHR24392:SF18,SMART_domains:SM00349		Y/C		G	medium	446/4125		getma.org/?cm=msa&ty=f&p=RBAK_HUMAN&rb=8&re=48&var=Y41C	deleterious(0)					RBAK,missense_variant,p.Tyr41Cys,ENST00000396912,NM_021163.3;RBAK,missense_variant,p.Tyr41Cys,ENST00000353796,NM_001204456.1;RBAK-RBAKDN,missense_variant,p.Tyr41Cys,ENST00000407184,;RBAK-RBAKDN,missense_variant,p.Tyr41Cys,ENST00000396904,NM_001204513.1;RBAK,non_coding_transcript_exon_variant,,ENST00000476992,;							MODERATE	122/2145	Y41C	RBAK_HUMAN			Transcript		benign(0.427)	.	ENSP00000275423		CCDS5337.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43826584	43826584	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091225	H091225N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	137	12	.	.	ENST00000389420.3:c.2751A>T	p.Ser917=	p.S917=	ENST00000389420	NM_025003.3	917	tcA/tcT	0	1	1	UPI00004565F4	0		ENST00000389420		ENSG00000173157	17178		149			HGNC	p.S71S		ADAMTS20		SNV							ENST00000395541	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,SMART_domains:SM00209		S		A		2751/6076							YES	ADAMTS20,synonymous_variant,p.=,ENST00000389420,NM_025003.3;ADAMTS20,synonymous_variant,p.=,ENST00000553158,;ADAMTS20,synonymous_variant,p.=,ENST00000549670,;ADAMTS20,synonymous_variant,p.=,ENST00000395541,;							LOW	2751/5733		ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
HERC1	0	LGGM	GRCh37	15	64048770	64048770	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091225	H091225N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	185	16	.	.	ENST00000443617.2:c.1399G>A	p.Asp467Asn	p.D467N	ENST00000443617	NM_003922.3	467	Gat/Aat	0	1	1	UPI0000212760	0	NA	ENST00000443617		ENSG00000103657	4867		201	1.92		HGNC	p.D467N		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,64048770,C,T&fts=all		PROSITE_profiles:PS50012,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Gene3D:2.130.10.30,Superfamily_domains:SSF50985		D/N		T	medium	1487/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=419&re=475&var=D467N		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Asp467Asn,ENST00000443617,NM_003922.3;HERC1,intron_variant,,ENST00000561400,;HERC1,non_coding_transcript_exon_variant,,ENST00000559886,;							MODERATE	1399/14586	D467N	HERC1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000390158		CCDS45277.1			1	
MSANTD4	0	LGGM	GRCh37	11	105880476	105880476	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091225	H091225N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	83	17	.	.	ENST00000301919.4:c.824C>T	p.Ser275Phe	p.S275F	ENST00000301919	NM_032424.1	275	tCc/tTc	0	1	1	UPI0000073CF1	0	NA	ENST00000301919		ENSG00000170903	29383		100	0		HGNC	p.S275F		MSANTD4		SNV							ENST00000301919	protein_coding	getma.org/?cm=var&var=hg19,11,105880476,G,A&fts=all		hmmpanther:PTHR21732,Coiled-coils_(Ncoils):Coil		S/F		A	neutral	2240/4087		getma.org/?cm=msa&ty=f&p=MSD4_HUMAN&rb=201&re=345&var=S275F	deleterious(0.05)	E9PRK0_HUMAN,E9PLV2_HUMAN,E9PKC8_HUMAN			YES	MSANTD4,missense_variant,p.Ser275Phe,ENST00000301919,NM_032424.1;MSANTD4,downstream_gene_variant,,ENST00000530788,;MSANTD4,downstream_gene_variant,,ENST00000530108,;MSANTD4,downstream_gene_variant,,ENST00000534458,;MSANTD4,upstream_gene_variant,,ENST00000529805,;							MODERATE	824/1038	S275F	MSD4_HUMAN			Transcript		benign(0.009)	.	ENSP00000304713		CCDS31663.1			1	
PRPF4B	0	LGGM	GRCh37	6	4032452	4032452	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	324	21	.	.	ENST00000337659.6:c.701A>G	p.Asp234Gly	p.D234G	ENST00000337659	NM_003913.4	234	gAt/gGt	0	1	1	UPI000013DD12	0	NA	ENST00000337659		ENSG00000112739	17346		345	1.525		HGNC	p.D234G		PRPF4B		SNV							ENST00000337659	protein_coding	getma.org/?cm=var&var=hg19,6,4032452,A,G&fts=all				D/G		G	low	801/4415		getma.org/?cm=msa&ty=f&p=PRP4B_HUMAN&rb=91&re=498&var=D234G	deleterious_low_confidence(0)	H0YDJ3_HUMAN,F5H2U2_HUMAN			YES	PRPF4B,missense_variant,p.Asp234Gly,ENST00000337659,NM_003913.4;PRPF4B,missense_variant,p.Asp220Gly,ENST00000538861,;PRPF4B,missense_variant,p.Asp234Gly,ENST00000480058,;							MODERATE	701/3024	D234G	PRP4B_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000337194		CCDS4488.1			1	
GOLGB1	0	LGGM	GRCh37	3	121416604	121416604	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H091225	H091225N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091225N.bam, H091225T.bam	Illumina HiSeq	115	37	.	.	ENST00000393667.3:c.2766T>G	p.Leu922=	p.L922=	ENST00000393667	NM_001256486.1	922	ctT/ctG	0	1		UPI000013F0A1	0		ENST00000340645		ENSG00000173230	4429		152			HGNC	p.L922L		GOLGB1		SNV							ENST00000393667	protein_coding			hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887		L		C		2877/11187				C9J8Q0_HUMAN				GOLGB1,synonymous_variant,p.=,ENST00000393667,NM_001256486.1;GOLGB1,synonymous_variant,p.=,ENST00000340645,NM_001256487.1,NM_004487.4,NM_001256488.1;GOLGB1,synonymous_variant,p.=,ENST00000494517,;GOLGB1,synonymous_variant,p.=,ENST00000489400,;GOLGB1,3_prime_UTR_variant,,ENST00000482512,;							LOW	2751/9780		GOGB1_HUMAN			Transcript			.	ENSP00000341848		CCDS3004.1			1	
TM6SF2	0	LGGM	GRCh37	19	19381237	19381237	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	9	2	.	.	ENST00000389363.4:c.214G>T	p.Ala72Ser	p.A72S	ENST00000389363	NM_001001524.2	72	Gcc/Tcc	0	1	1	UPI0000366D60	0	NA	ENST00000389363		ENSG00000213996	11861		11	0.2		HGNC	p.A72S		TM6SF2		SNV							ENST00000586064	protein_coding	getma.org/?cm=var&var=hg19,19,19381237,C,A&fts=all		hmmpanther:PTHR14568,hmmpanther:PTHR14568:SF9,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A/S		A	neutral	287/1505		getma.org/?cm=msa&ty=f&p=TM6S2_HUMAN&rb=1&re=200&var=A72S	tolerated(1)				YES	TM6SF2,missense_variant,p.Ala72Ser,ENST00000389363,NM_001001524.2;TM6SF2,intron_variant,,ENST00000586107,;AC138430.4,non_coding_transcript_exon_variant,,ENST00000586064,;TM6SF2,non_coding_transcript_exon_variant,,ENST00000431465,;TM6SF2,intron_variant,,ENST00000591001,;TM6SF2,upstream_gene_variant,,ENST00000590431,;							MODERATE	214/1134	A72S	TM6S2_HUMAN			Transcript		benign(0.048)	.	ENSP00000374014		CCDS42528.1			1	
PCSK9	0	LGGM	GRCh37	1	55527135	55527135	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	6	2	.	.	ENST00000302118.5:c.1769G>T	p.Gly590Val	p.G590V	ENST00000302118	NM_174936.3	590	gGc/gTc	0	1	1	UPI00001615E1	0	getma.org/pdb.php?prot=PCSK9_HUMAN&from=444&to=643&var=G590V	ENST00000302118		ENSG00000169174	20001		8	1.955		HGNC	p.G590V		PCSK9		SNV			1				ENST00000302118	protein_coding	getma.org/?cm=var&var=hg19,1,55527135,G,T&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF333		G/V		T	medium	2059/3637		getma.org/?cm=msa&ty=f&p=PCSK9_HUMAN&rb=444&re=643&var=G590V	tolerated(0.14)				YES	PCSK9,missense_variant,p.Gly590Val,ENST00000302118,NM_174936.3;PCSK9,3_prime_UTR_variant,,ENST00000543384,;USP24,downstream_gene_variant,,ENST00000294383,NM_015306.2;USP24,downstream_gene_variant,,ENST00000407756,;PCSK9,non_coding_transcript_exon_variant,,ENST00000490692,;							MODERATE	1769/2079	G590V	PCSK9_HUMAN			Transcript		benign(0.178)	.	ENSP00000303208		CCDS603.1			1	
THOC5	0	LGGM	GRCh37	22	29924130	29924130	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	43	3	.	.	ENST00000490103.1:c.1003G>T	p.Asp335Tyr	p.D335Y	ENST00000490103	NM_003678.4	335	Gac/Tac	0	1		UPI000013FD77	0	NA	ENST00000397871		ENSG00000100296	19074		46	2.125		HGNC	p.D335Y		THOC5		SNV							ENST00000397871	protein_coding	getma.org/?cm=var&var=hg19,22,29924130,C,A&fts=all		Pfam_domain:PF09766,hmmpanther:PTHR13375,hmmpanther:PTHR13375:SF3		D/Y		A	medium	1222/2560		getma.org/?cm=msa&ty=f&p=THOC5_HUMAN&rb=96&re=453&var=D335Y	deleterious(0)	C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN				THOC5,missense_variant,p.Asp335Tyr,ENST00000490103,NM_003678.4;THOC5,missense_variant,p.Asp335Tyr,ENST00000397872,NM_001002878.1;THOC5,missense_variant,p.Asp335Tyr,ENST00000397871,NM_001002879.1;THOC5,missense_variant,p.Asp335Tyr,ENST00000397873,NM_001002877.1;THOC5,missense_variant,p.Asp206Tyr,ENST00000443089,;CTA-256D12.11,intron_variant,,ENST00000411969,;THOC5,3_prime_UTR_variant,,ENST00000442555,;THOC5,3_prime_UTR_variant,,ENST00000358079,;THOC5,non_coding_transcript_exon_variant,,ENST00000484924,;THOC5,downstream_gene_variant,,ENST00000492707,;THOC5,downstream_gene_variant,,ENST00000488052,;							MODERATE	1003/2052	D335Y	THOC5_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000380969		CCDS13859.1			1	
SHPRH	0	LGGM	GRCh37	6	146231692	146231692	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	36	3	.	.	ENST00000367505.2:c.4407C>T	p.His1469=	p.H1469=	ENST00000367505		1469	caC/caT	0	1		UPI0000458A24	0		ENST00000275233		ENSG00000146414	19336		39			HGNC	p.H1473H		SHPRH		SNV							ENST00000367503	protein_coding			PROSITE_profiles:PS50089,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Gene3D:3.30.40.10,Pfam_domain:PF13923,SMART_domains:SM00184,Superfamily_domains:SSF57850		H		A		4806/6649								SHPRH,synonymous_variant,p.=,ENST00000367503,NM_001042683.2;SHPRH,synonymous_variant,p.=,ENST00000367505,;SHPRH,synonymous_variant,p.=,ENST00000438092,NM_173082.3;SHPRH,synonymous_variant,p.=,ENST00000275233,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;							LOW	4407/5052		SHPRH_HUMAN			Transcript			.	ENSP00000275233		CCDS43513.2			1	
FERMT2	0	LGGM	GRCh37	14	53325252	53325252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	24	3	.	.	ENST00000343279.4:c.1907C>T	p.Ala636Val	p.A636V	ENST00000343279	NM_001134999.1	636	gCa/gTa	0	1		UPI0000073CC9	0	getma.org/pdb.php?prot=FERM2_HUMAN&from=189&to=661&var=A629V	ENST00000341590		ENSG00000073712	15767		27	0.345		HGNC	p.A636V		FERMT2		SNV							ENST00000553373	protein_coding	getma.org/?cm=var&var=hg19,14,53325252,G,A&fts=all		Superfamily_domains:SSF50729,Gene3D:2.30.29.30,hmmpanther:PTHR16160,hmmpanther:PTHR16160:SF11		A/V		A	neutral	2072/3338		getma.org/?cm=msa&ty=f&p=FERM2_HUMAN&rb=189&re=661&var=A629V	deleterious(0)	G3V3J0_HUMAN,G3V281_HUMAN				FERMT2,missense_variant,p.Ala629Val,ENST00000395631,;FERMT2,missense_variant,p.Ala636Val,ENST00000343279,NM_001134999.1;FERMT2,missense_variant,p.Ala629Val,ENST00000341590,NM_006832.2;FERMT2,missense_variant,p.Ala589Val,ENST00000554152,;FERMT2,missense_variant,p.Ala636Val,ENST00000553373,;FERMT2,downstream_gene_variant,,ENST00000399304,NM_001135000.1;FERMT2,downstream_gene_variant,,ENST00000553663,;FERMT2,non_coding_transcript_exon_variant,,ENST00000557255,;FERMT2,downstream_gene_variant,,ENST00000553768,;FERMT2,non_coding_transcript_exon_variant,,ENST00000555546,;							MODERATE	1886/2043	A629V	FERM2_HUMAN			Transcript		benign(0.036)	.	ENSP00000340391		CCDS9713.1			1	
HYDIN	0	LGGM	GRCh37	16	70942717	70942717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	31	3	.	.	ENST00000393567.2:c.8052G>T	p.Met2684Ile	p.M2684I	ENST00000393567	NM_001270974.1	2684	atG/atT	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		34	0.69		HGNC	p.M2684I		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70942717,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		M/I		A	neutral	8203/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2561&re=2723&var=M2684I		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Met2684Ile,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;							MODERATE	8052/15366	M2684I	HYDIN_HUMAN			Transcript		benign(0.005)	.	ENSP00000377197		CCDS59269.1			1	
PLEC	0	LGGM	GRCh37	8	144990946	144990946	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	41	3	.	.	ENST00000322810.4:c.13454G>A	p.Arg4485His	p.R4485H	ENST00000322810	NM_201380.2	4485	cGc/cAc	0	1	1	UPI0000233FCD	0	getma.org/pdb.php?prot=PLEC_HUMAN&from=4446&to=4490&var=R4485H	ENST00000322810		ENSG00000178209	9069		44	2.34		HGNC	p.R4371H		PLEC		SNV			1				ENST00000527096	protein_coding	getma.org/?cm=var&var=hg19,8,144990946,C,T&fts=all		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399		R/H		T	medium	13624/15249		getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=4446&re=4490&var=R4485H		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Arg4485His,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Arg4348His,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Arg4375His,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Arg4326His,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Arg4348His,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Arg4352His,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Arg4334His,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Arg4316His,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Arg4371His,ENST00000527096,;							MODERATE	13454/14055	R4485H	PLEC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323856		CCDS43772.1			1	
MCM7	0	LGGM	GRCh37	7	99690641	99690641	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	31	3	.	.	ENST00000303887.5:c.2074G>A	p.Ala692Thr	p.A692T	ENST00000303887	NM_001278595.1	692	Gcc/Acc	0	1	1	UPI000012ED9E	0	NA	ENST00000303887		ENSG00000166508	6950		34	1.75		HGNC	p.A516T	rs573331867	MCM7	6.06E-05	SNV				9.64E-05			ENST00000354230	protein_coding	getma.org/?cm=var&var=hg19,7,99690641,C,T&fts=all	T:0	hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26		A/T		T	low	2720/2957	1.50E-05	getma.org/?cm=msa&ty=f&p=MCM7_HUMAN&rb=643&re=719&var=A692T	tolerated(0.29)	Q9H4N9_HUMAN,C9J8M6_HUMAN	T:0	T:0.002	YES	MCM7,missense_variant,p.Ala692Thr,ENST00000303887,NM_001278595.1,NM_005916.4;MCM7,missense_variant,p.Ala516Thr,ENST00000354230,NM_182776.2;MCM7,missense_variant,p.Ala362Thr,ENST00000343023,;COPS6,downstream_gene_variant,,ENST00000303904,NM_006833.4;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000419210,;MIR25,downstream_gene_variant,,ENST00000384816,;MIR106B,downstream_gene_variant,,ENST00000385301,;MIR93,downstream_gene_variant,,ENST00000385024,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;COPS6,downstream_gene_variant,,ENST00000465027,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000472107,;COPS6,downstream_gene_variant,,ENST00000474823,;COPS6,downstream_gene_variant,,ENST00000468499,;COPS6,downstream_gene_variant,,ENST00000483891,;COPS6,downstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000491245,;COPS6,downstream_gene_variant,,ENST00000496358,;MCM7,downstream_gene_variant,,ENST00000493352,;	0.000231	T:0.0004					MODERATE	2074/2160	A692T	MCM7_HUMAN		T:0	Transcript		benign(0.062)	.	ENSP00000307288	4.12E-05	CCDS5683.1		T:0	1	
ZNF775	0	LGGM	GRCh37	7	150094554	150094554	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	9	3	.	.	ENST00000329630.5:c.985C>T	p.Arg329Cys	p.R329C	ENST00000329630	NM_173680.3	329	Cgc/Tgc	0	1	1	UPI00001BDA25	0	getma.org/pdb.php?prot=ZN775_HUMAN&from=323&to=348&var=R329C	ENST00000329630		ENSG00000196456	28501		12	2.755		HGNC	p.R329C		ZNF775		SNV							ENST00000329630	protein_coding	getma.org/?cm=var&var=hg19,7,150094554,C,T&fts=all		Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24409,PROSITE_profiles:PS50157		R/C		T	medium	1092/2257		getma.org/?cm=msa&ty=f&p=ZN775_HUMAN&rb=303&re=368&var=R329C	deleterious(0)	C9JVG2_HUMAN,C9JAM7_HUMAN			YES	ZNF775,missense_variant,p.Arg329Cys,ENST00000329630,NM_173680.3;ZNF775,downstream_gene_variant,,ENST00000490973,;ZNF775,downstream_gene_variant,,ENST00000478789,;ZNF775,intron_variant,,ENST00000486297,;ZNF775,intron_variant,,ENST00000483664,;ZNF775,upstream_gene_variant,,ENST00000476489,;							MODERATE	985/1614	R329C	ZN775_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000330838		CCDS43678.1			1	
ACO2	0	LGGM	GRCh37	22	41911809	41911809	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	34	3	.	.	ENST00000216254.4:c.723G>T	p.Trp241Cys	p.W241C	ENST00000216254	NM_001098.2	241	tgG/tgT	0	1	1	UPI000003CA3B	0	getma.org/pdb.php?prot=ACON_HUMAN&from=64&to=503&var=W241C	ENST00000216254		ENSG00000100412	118		37	4.605		HGNC	p.W241C		ACO2		SNV			1				ENST00000396512	protein_coding	getma.org/?cm=var&var=hg19,22,41911809,G,T&fts=all		hmmpanther:PTHR11670:SF30,hmmpanther:PTHR11670,TIGRFAM_domain:TIGR01340,Pfam_domain:PF00330,Gene3D:3.40.1060.10,Superfamily_domains:SSF53732		W/C		T	high	745/2741		getma.org/?cm=msa&ty=f&p=ACON_HUMAN&rb=64&re=503&var=W241C	deleterious_low_confidence(0)	B4DZ08_HUMAN,B4DEC3_HUMAN			YES	ACO2,missense_variant,p.Trp241Cys,ENST00000396512,;ACO2,missense_variant,p.Trp241Cys,ENST00000216254,NM_001098.2;ACO2,non_coding_transcript_exon_variant,,ENST00000466237,;ACO2,non_coding_transcript_exon_variant,,ENST00000481310,;ACO2,downstream_gene_variant,,ENST00000471094,;ACO2,non_coding_transcript_exon_variant,,ENST00000478010,;ACO2,downstream_gene_variant,,ENST00000482208,;							MODERATE	723/2343	W241C	ACON_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216254		CCDS14017.1			1	
FAM8A1	0	LGGM	GRCh37	6	17600767	17600778	+	inframe_deletion	In_Frame_Del	DEL	CCCCAGGCCGAA	CCCCAGGCCGAA	-	novel	by Submitter	H091227	H091227N.bam	CCCCAGGCCGAA	CCCCAGGCCGAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	4	4	.	.	ENST00000259963.3:c.136_147del	p.Glu46_Ala49del	p.E46_A49del	ENST00000259963	NM_016255.2	43	CCCCAGGCCGAA/-	0	1	1	UPI0000062300	0		ENST00000259963		ENSG00000137414	16372	0.00043	8			HGNC	p.43_46del	rs774504102	FAM8A1	0.000405	deletion				0.00313			ENST00000259963	protein_coding			hmmpanther:PTHR13659		PQAE/-		-		182-193/4677				B4DK49_HUMAN			YES	FAM8A1,inframe_deletion,p.Glu46_Ala49del,ENST00000259963,NM_016255.2;	0.0156						MODERATE	127-138/1242		FA8A1_HUMAN			Transcript	9		common_variant	ENSP00000259963	0.000631	CCDS4540.1			1	
RNASEH2C	0	LGGM	GRCh37	11	65487865	65487865	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	33	4	.	.	ENST00000308418.4:c.196C>T	p.Arg66Cys	p.R66C	ENST00000308418	NM_032193.3	66	Cgc/Tgc	0	1	1	UPI000000D799	0	getma.org/pdb.php?prot=RNH2C_HUMAN&from=28&to=157&var=R66C	ENST00000308418		ENSG00000172922	24116		37	2.99		HGNC	p.R66C		RNASEH2C		SNV			1				ENST00000527610	protein_coding	getma.org/?cm=var&var=hg19,11,65487865,G,A&fts=all		Pfam_domain:PF08615,hmmpanther:PTHR21726		R/C		A	medium	385/2794		getma.org/?cm=msa&ty=f&p=RNH2C_HUMAN&rb=28&re=157&var=R66C	deleterious(0)	E9PKP0_HUMAN			YES	RNASEH2C,missense_variant,p.Arg66Cys,ENST00000308418,NM_032193.3;RNASEH2C,missense_variant,p.Arg66Cys,ENST00000527610,;RNASEH2C,5_prime_UTR_variant,,ENST00000528220,;KAT5,downstream_gene_variant,,ENST00000341318,NM_182710.2;KAT5,downstream_gene_variant,,ENST00000377046,NM_006388.3;KAT5,downstream_gene_variant,,ENST00000352980,NM_182709.2,NM_001206833.1;KAT5,downstream_gene_variant,,ENST00000534650,;KAT5,downstream_gene_variant,,ENST00000530446,;KAT5,downstream_gene_variant,,ENST00000533596,;RNASEH2C,missense_variant,p.Arg60Cys,ENST00000531596,;RNASEH2C,missense_variant,p.Arg31Cys,ENST00000534482,;RNASEH2C,missense_variant,p.Arg26Cys,ENST00000533698,;RNASEH2C,non_coding_transcript_exon_variant,,ENST00000530192,;KAT5,downstream_gene_variant,,ENST00000533441,;KAT5,downstream_gene_variant,,ENST00000525600,;							MODERATE	196/495	R66C	RNH2C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308193		CCDS8111.1			1	
RHOJ	0	LGGM	GRCh37	14	63671612	63671612	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	7	4	.	.	ENST00000316754.3:c.25A>G	p.Ser9Gly	p.S9G	ENST00000316754	NM_020663.4	9	Agc/Ggc	0	1	1	UPI0000133894	0	NA	ENST00000316754		ENSG00000126785	688		11	1.04		HGNC	p.S9G		RHOJ		SNV							ENST00000555125	protein_coding	getma.org/?cm=var&var=hg19,14,63671612,A,G&fts=all				S/G		G	low	487/3302		getma.org/?cm=msa&ty=f&p=RHOJ_HUMAN&rb=1&re=52&var=S9G	tolerated_low_confidence(0.34)				YES	RHOJ,missense_variant,p.Ser9Gly,ENST00000316754,NM_020663.4;RHOJ,missense_variant,p.Ser9Gly,ENST00000555125,;RHOJ,non_coding_transcript_exon_variant,,ENST00000557133,;RHOJ,missense_variant,p.Ser9Gly,ENST00000557447,;							MODERATE	25/645	S9G	RHOJ_HUMAN			Transcript		benign(0.007)	.	ENSP00000316729		CCDS9757.1			1	
PARP8	0	LGGM	GRCh37	5	50090084	50090084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	90	4	.	.	ENST00000281631.5:c.781G>A	p.Glu261Lys	p.E261K	ENST00000281631	NM_024615.3	261	Gaa/Aaa	0	1	1	UPI0000073D19	0	NA	ENST00000281631		ENSG00000151883	26124		94	0.895		HGNC	p.E261K		PARP8		SNV							ENST00000503750	protein_coding	getma.org/?cm=var&var=hg19,5,50090084,G,A&fts=all		hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF3		E/K		A	low	939/7177		getma.org/?cm=msa&ty=f&p=PARP8_HUMAN&rb=51&re=497&var=E261K	deleterious(0.04)	D6RGZ9_HUMAN			YES	PARP8,missense_variant,p.Glu261Lys,ENST00000281631,NM_024615.3,NM_001178056.1;PARP8,missense_variant,p.Glu261Lys,ENST00000503750,;PARP8,missense_variant,p.Glu240Lys,ENST00000505554,;PARP8,missense_variant,p.Glu261Lys,ENST00000514067,;PARP8,missense_variant,p.Glu261Lys,ENST00000505697,NM_001178055.1;PARP8,missense_variant,p.Glu14Lys,ENST00000514342,;PARP8,non_coding_transcript_exon_variant,,ENST00000511363,;PARP8,non_coding_transcript_exon_variant,,ENST00000503561,;PARP8,synonymous_variant,p.=,ENST00000515166,;							MODERATE	781/2565	E261K	PARP8_HUMAN			Transcript		benign(0.016)	.	ENSP00000281631		CCDS3954.1			1	
MEF2C	0	LGGM	GRCh37	5	88027625	88027625	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	47	4	.	.	ENST00000340208.5:c.785T>G	p.Met262Arg	p.M262R	ENST00000340208	NM_001193347.1	262	aTg/aGg	0	1		UPI0000040635	0	NA	ENST00000437473		ENSG00000081189	6996		51	1.39		HGNC	p.M244R		MEF2C		SNV			1				ENST00000437473	protein_coding	getma.org/?cm=var&var=hg19,5,88027625,A,C&fts=all		hmmpanther:PTHR11945:SF25,hmmpanther:PTHR11945		M/R		C	low	1149/4095		getma.org/?cm=msa&ty=f&p=MEF2C_HUMAN&rb=157&re=356&var=M244R	tolerated(0.34)	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG21_HUMAN,D6RG14_HUMAN,D6RCM6_HUMAN				MEF2C,missense_variant,p.Met244Arg,ENST00000504921,;MEF2C,missense_variant,p.Met262Arg,ENST00000340208,NM_001193347.1;MEF2C,missense_variant,p.Met242Arg,ENST00000424173,NM_001131005.2;MEF2C,missense_variant,p.Met244Arg,ENST00000437473,NM_001193350.1,NM_002397.4;MEF2C,missense_variant,p.Met244Arg,ENST00000514028,;MEF2C,missense_variant,p.Met244Arg,ENST00000510942,;MEF2C,missense_variant,p.Met244Arg,ENST00000506554,;MEF2C,missense_variant,p.Met244Arg,ENST00000514015,;MEF2C,missense_variant,p.Met244Arg,ENST00000508569,;MEF2C,missense_variant,p.Met196Arg,ENST00000539796,NM_001193348.1;MEF2C,missense_variant,p.Met242Arg,ENST00000513252,;MEF2C,downstream_gene_variant,,ENST00000506716,;MEF2C,downstream_gene_variant,,ENST00000503554,;MEF2C,non_coding_transcript_exon_variant,,ENST00000515715,;MEF2C,upstream_gene_variant,,ENST00000510980,;							MODERATE	731/1422	M244R	MEF2C_HUMAN			Transcript		benign(0.119)	.	ENSP00000396219		CCDS47245.1			1	
RBM34	0	LGGM	GRCh37	1	235318216	235318216	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	101	5	.	.	ENST00000408888.3:c.577C>T	p.Pro193Ser	p.P193S	ENST00000408888		193	Cct/Tct	0	1	1	UPI00001D7E4C	0	NA	ENST00000408888		ENSG00000188739	28965		106	1.055		HGNC	p.P188S		RBM34		SNV							ENST00000366606	protein_coding	getma.org/?cm=var&var=hg19,1,235318216,G,A&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF271,SMART_domains:SM00360,Superfamily_domains:SSF54928		P/S		A	low	808/2054		getma.org/?cm=msa&ty=f&p=RBM34_HUMAN&rb=187&re=234&var=P193S	deleterious(0)				YES	RBM34,missense_variant,p.Pro193Ser,ENST00000408888,;RBM34,missense_variant,p.Pro188Ser,ENST00000366606,NM_015014.2;RBM34,missense_variant,p.Pro191Ser,ENST00000447801,;RBM34,downstream_gene_variant,,ENST00000429912,;ARID4B,3_prime_UTR_variant,,ENST00000474953,;RBM34,3_prime_UTR_variant,,ENST00000474086,;RBM34,non_coding_transcript_exon_variant,,ENST00000476261,;RBM34,non_coding_transcript_exon_variant,,ENST00000468751,;RBM34,downstream_gene_variant,,ENST00000475960,;							MODERATE	577/1293	P193S	RBM34_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000386226		CCDS41477.2			1	
NEB	0	LGGM	GRCh37	2	152499804	152499804	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	104	5	.	.	ENST00000397345.3:c.8020G>C	p.Glu2674Gln	p.E2674Q	ENST00000397345	NM_001164508.1	2674	Gag/Cag	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		109	1.7		HGNC	p.E2674Q		NEB		SNV			1				ENST00000409198	protein_coding	getma.org/?cm=var&var=hg19,2,152499804,C,G&fts=all		hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		E/Q		G	low	8168/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=2665&re=2703&var=E2674Q		J3QK84_HUMAN				NEB,missense_variant,p.Glu2674Gln,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Glu2674Gln,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Glu2674Gln,ENST00000603639,;NEB,missense_variant,p.Glu2674Gln,ENST00000604864,;NEB,missense_variant,p.Glu2674Gln,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Glu2674Gln,ENST00000172853,;							MODERATE	8020/20010	E2674Q				Transcript		possibly_damaging(0.819)	.	ENSP00000172853					1	
KLHL40	0	LGGM	GRCh37	3	42727636	42727636	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	11	5	.	.	ENST00000287777.4:c.526G>A	p.Glu176Lys	p.E176K	ENST00000287777	NM_152393.3	176	Gag/Aag	0	1	1	UPI000000D866	0	getma.org/pdb.php?prot=KBTB5_HUMAN&from=133&to=239&var=E176K	ENST00000287777		ENSG00000157119	30372		16	2.025		HGNC	p.E176K	rs760456227	KLHL40		SNV			1				ENST00000287777	protein_coding	getma.org/?cm=var&var=hg19,3,42727636,G,A&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF22,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037		E/K		A	medium	626/2517		getma.org/?cm=msa&ty=f&p=KBTB5_HUMAN&rb=133&re=239&var=E176K	deleterious(0)				YES	KLHL40,missense_variant,p.Glu176Lys,ENST00000287777,NM_152393.3;	0.000145						MODERATE	526/1866	E176K	KLH40_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000287777	8.25E-06	CCDS2703.1			1	
MYH9	0	LGGM	GRCh37	22	36691667	36691667	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	7	7	.	.	ENST00000216181.5:c.3369G>A	p.Glu1123=	p.E1123=	ENST00000216181	NM_002473.4	1123	gaG/gaA	0	1	1	UPI000012FB80	0		ENST00000216181		ENSG00000100345	7579		14			HGNC	p.E1123E		MYH9		SNV			1				ENST00000216181	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF317,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF90257		E		T		3600/7501				Q9UMJ0_HUMAN,B1AH99_HUMAN			YES	MYH9,synonymous_variant,p.=,ENST00000216181,NM_002473.4;MYH9,non_coding_transcript_exon_variant,,ENST00000459960,;							LOW	3369/5883		MYH9_HUMAN			Transcript			.	ENSP00000216181		CCDS13927.1			1	
FEM1C	0	LGGM	GRCh37	5	114860741	114860741	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091227	H091227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	60	7	.	.	ENST00000274457.3:c.1118A>G	p.Asp373Gly	p.D373G	ENST00000274457	NM_020177.2	373	gAt/gGt	0	1	1	UPI0000046A79	0	getma.org/pdb.php?prot=FEM1C_HUMAN&from=245&to=444&var=D373G	ENST00000274457		ENSG00000145780	16933		67	0.49		HGNC	p.D373G		FEM1C		SNV							ENST00000274457	protein_coding	getma.org/?cm=var&var=hg19,5,114860741,T,C&fts=all		hmmpanther:PTHR24173:SF14,hmmpanther:PTHR24173,Superfamily_domains:SSF48403		D/G		C	neutral	1680/5813		getma.org/?cm=msa&ty=f&p=FEM1C_HUMAN&rb=245&re=444&var=D373G	deleterious(0)				YES	FEM1C,missense_variant,p.Asp373Gly,ENST00000274457,NM_020177.2;							MODERATE	1118/1854	D373G	FEM1C_HUMAN			Transcript		benign(0.254)	.	ENSP00000274457		CCDS4118.1			1	
TMEM234	0	LGGM	GRCh37	1	32686778	32686778	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	1	7	.	.	ENST00000309777.6:c.189C>T	p.Leu63=	p.L63=	ENST00000309777	NM_019118.3	63	ctC/ctT	0	1		UPI0000073C70	0		ENST00000344461		ENSG00000160055	28837		8			HGNC	p.L63L		TMEM234		SNV							ENST00000489170	protein_coding			Pfam_domain:PF10639,Superfamily_domains:0043518		L		A		205/721								TMEM234,synonymous_variant,p.=,ENST00000373593,;TMEM234,synonymous_variant,p.=,ENST00000309777,NM_019118.3;TMEM234,synonymous_variant,p.=,ENST00000545122,;TMEM234,synonymous_variant,p.=,ENST00000344461,;EIF3I,upstream_gene_variant,,ENST00000373586,NM_003757.2;DCDC2B,downstream_gene_variant,,ENST00000409358,NM_001099434.1;EIF3I,upstream_gene_variant,,ENST00000355082,;EIF3I,upstream_gene_variant,,ENST00000471486,;EIF3I,upstream_gene_variant,,ENST00000483517,;EIF3I,upstream_gene_variant,,ENST00000474371,;EIF3I,upstream_gene_variant,,ENST00000489353,;TMEM234,upstream_gene_variant,,ENST00000485689,;TMEM234,synonymous_variant,p.=,ENST00000461402,;TMEM234,synonymous_variant,p.=,ENST00000491434,;TMEM234,synonymous_variant,p.=,ENST00000489170,;TMEM234,synonymous_variant,p.=,ENST00000483001,;TMEM234,non_coding_transcript_exon_variant,,ENST00000466796,;TMEM234,non_coding_transcript_exon_variant,,ENST00000487174,;TMEM234,intron_variant,,ENST00000484490,;DCDC2B,downstream_gene_variant,,ENST00000487056,;							LOW	189/495		TM234_HUMAN			Transcript			.	ENSP00000344021					1	
CELF4	0	LGGM	GRCh37	18	34854411	34854411	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	22	8	.	.	ENST00000420428.2:c.664T>C	p.Ser222Pro	p.S222P	ENST00000420428	NM_020180.3	222	Tcg/Ccg	0	1	1	UPI00000726FC	0	getma.org/pdb.php?prot=CELF4_HUMAN&from=154&to=222&var=S222P	ENST00000420428		ENSG00000101489	14015		30	0.725		HGNC	p.S222P		CELF4		SNV							ENST00000412753	protein_coding	getma.org/?cm=var&var=hg19,18,34854411,A,G&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF181,SMART_domains:SM00360,Superfamily_domains:SSF54928		S/P		G	neutral	1060/4052		getma.org/?cm=msa&ty=f&p=CELF4_HUMAN&rb=154&re=222&var=S222P	deleterious(0.02)	K7EJK3_HUMAN			YES	CELF4,missense_variant,p.Ser222Pro,ENST00000420428,NM_020180.3;CELF4,missense_variant,p.Ser222Pro,ENST00000412753,NM_001025088.1,NM_001025087.1;CELF4,missense_variant,p.Ser221Pro,ENST00000591287,;CELF4,missense_variant,p.Ser212Pro,ENST00000334919,NM_001025089.1;CELF4,missense_variant,p.Ser222Pro,ENST00000603232,;CELF4,missense_variant,p.Ser221Pro,ENST00000361795,;CELF4,missense_variant,p.Ser221Pro,ENST00000601019,;CELF4,missense_variant,p.Ser222Pro,ENST00000591282,;CELF4,missense_variant,p.Ser211Pro,ENST00000588597,;CELF4,missense_variant,p.Ser212Pro,ENST00000601392,;CELF4,missense_variant,p.Ser88Pro,ENST00000587819,;CELF4,missense_variant,p.Ser99Pro,ENST00000589229,;CELF4,upstream_gene_variant,,ENST00000588591,;CELF4,upstream_gene_variant,,ENST00000586009,;CELF4,upstream_gene_variant,,ENST00000589386,;CELF4,upstream_gene_variant,,ENST00000593271,;CELF4,upstream_gene_variant,,ENST00000587657,;CELF4,downstream_gene_variant,,ENST00000587924,;RP11-797E24.3,intron_variant,,ENST00000588766,;RP11-797E24.3,upstream_gene_variant,,ENST00000586610,;CELF4,upstream_gene_variant,,ENST00000587074,;CELF4,synonymous_variant,p.=,ENST00000590112,;CELF4,upstream_gene_variant,,ENST00000591421,;							MODERATE	664/1461	S222P	CELF4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000410584		CCDS32818.1			1	
DMRT2	0	LGGM	GRCh37	9	1056568	1056568	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	70	8	.	.	ENST00000382251.3:c.981C>T	p.Ser327=	p.S327=	ENST00000382251		327	agC/agT	0	1		UPI000013D066	0		ENST00000358146		ENSG00000173253	2935		78			HGNC	p.S327S	rs371344054,COSM3902669	DMRT2	0.000182	SNV	T:0					0,1	ENST00000382251	protein_coding		T:0	hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF59		S	T:0.0001	T		981/1965	3.00E-05				T:0	T:0		DMRT2,synonymous_variant,p.=,ENST00000382251,;DMRT2,synonymous_variant,p.=,ENST00000302441,NM_181872.4;DMRT2,synonymous_variant,p.=,ENST00000358146,;DMRT2,3_prime_UTR_variant,,ENST00000259622,;DMRT2,3_prime_UTR_variant,,ENST00000382255,NM_001130865.2,NM_006557.6;DMRT2,downstream_gene_variant,,ENST00000412350,;	0.000116	T:0.0002			0,1		LOW	981/1686		DMRT2_HUMAN		T:0	Transcript			.	ENSP00000350865	4.94E-05	CCDS6444.1		T:0.001	1	
EIF4ENIF1	0	LGGM	GRCh37	22	31836792	31836792	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	38	9	.	.	ENST00000397525.1:c.2614C>G	p.Gln872Glu	p.Q872E	ENST00000397525	NM_001164501.1	872	Cag/Gag	0	1		UPI0000124F14	0	NA	ENST00000330125		ENSG00000184708	16687		47	2.005		HGNC	p.Q872E		EIF4ENIF1		SNV							ENST00000397525	protein_coding	getma.org/?cm=var&var=hg19,22,31836792,G,C&fts=all		hmmpanther:PTHR12269		Q/E		C	medium	2689/3544		getma.org/?cm=msa&ty=f&p=4ET_HUMAN&rb=714&re=913&var=Q872E	deleterious(0)	B1AKL6_HUMAN,B1AKL5_HUMAN				EIF4ENIF1,missense_variant,p.Gln872Glu,ENST00000397525,NM_001164501.1;EIF4ENIF1,missense_variant,p.Gln872Glu,ENST00000330125,NM_019843.3;EIF4ENIF1,missense_variant,p.Gln848Glu,ENST00000397523,;EIF4ENIF1,missense_variant,p.Gln698Glu,ENST00000344710,NM_001164502.1;EIF4ENIF1,missense_variant,p.Gln527Glu,ENST00000382180,;EIF4ENIF1,downstream_gene_variant,,ENST00000418321,;EIF4ENIF1,upstream_gene_variant,,ENST00000441289,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000495101,;DRG1,intron_variant,,ENST00000548143,;EIF4ENIF1,downstream_gene_variant,,ENST00000445424,;EIF4ENIF1,downstream_gene_variant,,ENST00000487671,;EIF4ENIF1,downstream_gene_variant,,ENST00000475437,;							MODERATE	2614/2958	Q872E	4ET_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000328103		CCDS13898.1			1	
PAX8	0	LGGM	GRCh37	2	114004441	114004441	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	10	11	.	.	ENST00000429538.3:c.81G>T	p.Pro27=	p.P27=	ENST00000429538	NM_003466.3	27	ccG/ccT	0	1		UPI0000161BD3	0		ENST00000263334		ENSG00000125618	8622		21			HGNC	p.P27P		PAX8		SNV			1				ENST00000263334	protein_coding			PROSITE_profiles:PS51057,hmmpanther:PTHR24329:SF10,hmmpanther:PTHR24329,Pfam_domain:PF00292,Gene3D:1.10.10.10,SMART_domains:SM00351,Superfamily_domains:SSF46689,Prints_domain:PR00027		P		A		81/1197								PAX8,synonymous_variant,p.=,ENST00000429538,NM_003466.3;PAX8,synonymous_variant,p.=,ENST00000348715,NM_013952.3;PAX8,synonymous_variant,p.=,ENST00000263335,NM_013953.3;PAX8,synonymous_variant,p.=,ENST00000397647,NM_013992.3;PAX8,synonymous_variant,p.=,ENST00000263334,;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,upstream_gene_variant,,ENST00000510859,;PAX8,non_coding_transcript_exon_variant,,ENST00000467778,;PAX8,intron_variant,,ENST00000554830,;							LOW	81/1197		PAX8_HUMAN			Transcript			.	ENSP00000263334		CCDS46399.1			1	
ZNF536	0	LGGM	GRCh37	19	30935907	30935907	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	18	12	.	.	ENST00000355537.3:c.1438G>A	p.Val480Ile	p.V480I	ENST00000355537	NM_014717.1	480	Gtc/Atc	0	1	1	UPI000006ED3E	0	NA	ENST00000355537		ENSG00000198597	29025		30	-0.69		HGNC	p.V480I	COSM4076614	ZNF536		SNV						1	ENST00000355537	protein_coding	getma.org/?cm=var&var=hg19,19,30935907,G,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5		V/I		A	neutral	1585/4945		getma.org/?cm=msa&ty=f&p=ZN536_HUMAN&rb=470&re=630&var=V480I	tolerated(0.31)	K7EKT4_HUMAN,K7EJP8_HUMAN			YES	ZNF536,missense_variant,p.Val480Ile,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Val480Ile,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;					1		MODERATE	1438/3903	V480I	ZN536_HUMAN			Transcript		benign(0.001)	.	ENSP00000347730		CCDS32984.1			1	
AGBL1	0	LGGM	GRCh37	15	87097677	87097677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	23	12	.	.	ENST00000441037.2:c.2765C>T	p.Thr922Met	p.T922M	ENST00000441037	NM_152336.2	922	aCg/aTg	0	1	1	UPI0000EC9CE0	0	NA	ENST00000441037		ENSG00000166748	26504		35	3.45		HGNC	p.T922M	rs374182506	AGBL1		SNV	T:0		1				ENST00000441037	protein_coding	getma.org/?cm=var&var=hg19,15,87097677,C,T&fts=all		Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF53187		T/M	T:0.0001	T	medium	2860/3508	4.77E-05	getma.org/?cm=msa&ty=f&p=CBPC4_HUMAN&rb=699&re=967&var=T922M	deleterious(0)	J3KQF5_HUMAN			YES	AGBL1,missense_variant,p.Thr922Met,ENST00000441037,NM_152336.2;AGBL1,missense_variant,p.Thr922Met,ENST00000421325,;AGBL1,missense_variant,p.Thr653Met,ENST00000389298,;							MODERATE	2765/3201	T922M	CBPC4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000413001	2.49E-05	CCDS58398.1			1	
STYK1	0	LGGM	GRCh37	12	10780246	10780246	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	18	13	.	.	ENST00000075503.3:c.711G>C	p.Leu237Phe	p.L237F	ENST00000075503	NM_018423.2	237	ttG/ttC	0	1	1	UPI000013C57C	0	getma.org/pdb.php?prot=STYK1_HUMAN&from=114&to=380&var=L237F	ENST00000075503		ENSG00000060140	18889		31	1.025		HGNC	p.L237F		STYK1		SNV							ENST00000075503	protein_coding	getma.org/?cm=var&var=hg19,12,10780246,C,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF216,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112		L/F		G	low	1232/2995		getma.org/?cm=msa&ty=f&p=STYK1_HUMAN&rb=114&re=380&var=L237F	tolerated(0.18)	F5H4G3_HUMAN,F5H366_HUMAN,F5H2I9_HUMAN			YES	STYK1,missense_variant,p.Leu237Phe,ENST00000075503,NM_018423.2;STYK1,missense_variant,p.Leu81Phe,ENST00000542924,;STYK1,downstream_gene_variant,,ENST00000538867,;STYK1,downstream_gene_variant,,ENST00000542562,;							MODERATE	711/1269	L237F	STYK1_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000075503		CCDS8629.1			1	
STIL	0	LGGM	GRCh37	1	47726205	47726205	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	14	13	.	.	ENST00000371877.3:c.2836G>A	p.Val946Ile	p.V946I	ENST00000371877		946	Gta/Ata	0	1		UPI0000470133	0	NA	ENST00000360380		ENSG00000123473	10879		27	1.895		HGNC	p.V928I		STIL		SNV			1				ENST00000396221	protein_coding	getma.org/?cm=var&var=hg19,1,47726205,C,T&fts=all		hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128		V/I		T	low	3197/5225		getma.org/?cm=msa&ty=f&p=STIL_HUMAN&rb=699&re=973&var=V945I	deleterious(0.01)	Q5T0D0_HUMAN				STIL,missense_variant,p.Val945Ile,ENST00000360380,NM_001282936.1;STIL,missense_variant,p.Val945Ile,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,missense_variant,p.Val946Ile,ENST00000371877,;STIL,missense_variant,p.Val945Ile,ENST00000243182,;STIL,missense_variant,p.Val928Ile,ENST00000396221,NM_001282937.1;STIL,missense_variant,p.Val881Ile,ENST00000447475,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;							MODERATE	2833/3864	V945I	STIL_HUMAN			Transcript		benign(0.299)	.	ENSP00000353544		CCDS548.1			1	
ROBO1	0	LGGM	GRCh37	3	78706278	78706278	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	30	13	.	.	ENST00000464233.1:c.2584G>A	p.Val862Ile	p.V862I	ENST00000464233	NM_002941.3	862	Gta/Ata	0	1	1	UPI00000713D9	0	getma.org/pdb.php?prot=ROBO1_HUMAN&from=776&to=864&var=V862I	ENST00000464233		ENSG00000169855	10249		43	2.365		HGNC	p.V826I		ROBO1		SNV							ENST00000467549	protein_coding	getma.org/?cm=var&var=hg19,3,78706278,C,T&fts=all		Superfamily_domains:SSF49265,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,PROSITE_profiles:PS50853		V/I		T	medium	2698/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=776&re=864&var=V862I	deleterious(0.01)				YES	ROBO1,missense_variant,p.Val823Ile,ENST00000436010,;ROBO1,missense_variant,p.Val862Ile,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Val826Ile,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Val826Ile,ENST00000467549,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;ROBO1,downstream_gene_variant,,ENST00000484514,;							MODERATE	2584/4956	V862I	ROBO1_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000420321		CCDS54611.1			1	
TNR	0	LGGM	GRCh37	1	175299324	175299324	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	42	14	.	.	ENST00000367674.2:c.3679C>T	p.Arg1227Cys	p.R1227C	ENST00000367674		1227	Cgc/Tgc	0	1		UPI000013D41C	0	getma.org/pdb.php?prot=TENR_HUMAN&from=1134&to=1343&var=R1227C	ENST00000263525		ENSG00000116147	11953		56	4.42		HGNC	p.R1227C		TNR		SNV							ENST00000367674	protein_coding	getma.org/?cm=var&var=hg19,1,175299324,G,A&fts=all		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF39,SMART_domains:SM00186,Superfamily_domains:SSF56496		R/C		A	high	4234/5190		getma.org/?cm=msa&ty=f&p=TENR_HUMAN&rb=1134&re=1343&var=R1227C	deleterious(0)	A1L306_HUMAN				TNR,missense_variant,p.Arg1227Cys,ENST00000367674,;TNR,missense_variant,p.Arg1227Cys,ENST00000263525,NM_003285.2;RP3-518E13.2,intron_variant,,ENST00000569593,;							MODERATE	3679/4077	R1227C	TENR_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000263525		CCDS1318.1			1	
FLRT2	0	LGGM	GRCh37	14	86088015	86088015	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	47	15	.	.	ENST00000330753.4:c.157A>T	p.Ser53Cys	p.S53C	ENST00000330753	NM_013231.4	53	Agc/Tgc	0	1	1	UPI0000049E10	0	NA	ENST00000330753		ENSG00000185070	3761		62	3.065		HGNC	p.S53C	COSM1515989	FLRT2		SNV						1	ENST00000554746	protein_coding	getma.org/?cm=var&var=hg19,14,86088015,A,T&fts=all		SMART_domains:SM00013,Pfam_domain:PF01462,Gene3D:3.80.10.10,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF23		S/C		T	medium	924/7943		getma.org/?cm=msa&ty=f&p=FLRT2_HUMAN&rb=15&re=82&var=S53C	deleterious(0.01)	B4DM15_HUMAN			YES	FLRT2,missense_variant,p.Ser53Cys,ENST00000330753,NM_013231.4;FLRT2,missense_variant,p.Ser53Cys,ENST00000554746,;FLRT2,upstream_gene_variant,,ENST00000553650,;					1		MODERATE	157/1983	S53C	FLRT2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000332879		CCDS9877.1			1	
RTEL1	0	LGGM	GRCh37	20	62293277	62293277	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	47	15	.	.	ENST00000508582.2:c.376C>G	p.Leu126Val	p.L126V	ENST00000508582		126	Ctt/Gtt	0	1		UPI000006F635	0	getma.org/pdb.php?prot=RTEL1_HUMAN&from=111&to=272&var=L126V	ENST00000370018		ENSG00000258366	15888		62	2.01		HGNC	p.L126V		RTEL1		SNV			1				ENST00000356810	protein_coding	getma.org/?cm=var&var=hg19,20,62293277,C,G&fts=all		Superfamily_domains:SSF52540,Superfamily_domains:SSF52540,SMART_domains:SM00488,Pfam_domain:PF06733,Gene3D:3.40.50.300,hmmpanther:PTHR11472:SF4,hmmpanther:PTHR11472,PROSITE_profiles:PS51193		L/V		G	medium	1203/4955		getma.org/?cm=msa&ty=f&p=RTEL1_HUMAN&rb=111&re=272&var=L126V	deleterious(0)					RTEL1,missense_variant,p.Leu126Val,ENST00000318100,;RTEL1,missense_variant,p.Leu126Val,ENST00000370018,NM_032957.4,NM_016434.3;RTEL1,missense_variant,p.Leu126Val,ENST00000360203,NM_001283009.1;RTEL1,missense_variant,p.Leu126Val,ENST00000508582,;RTEL1,missense_variant,p.Leu126Val,ENST00000356810,;RTEL1,downstream_gene_variant,,ENST00000488316,;RTEL1,downstream_gene_variant,,ENST00000469728,;RTEL1,upstream_gene_variant,,ENST00000463361,;RTEL1-TNFRSF6B,missense_variant,p.Leu126Val,ENST00000482936,;RTEL1-TNFRSF6B,missense_variant,p.Leu126Val,ENST00000492259,;							MODERATE	376/3660	L126V	RTEL1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000359035		CCDS13531.1			1	
DPYSL5	0	LGGM	GRCh37	2	27167545	27167545	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	19	16	.	.	ENST00000288699.6:c.1462G>T	p.Asp488Tyr	p.D488Y	ENST00000288699	NM_001253724.1	488	Gac/Tac	0	1	1	UPI00000411CF	0	getma.org/pdb.php?prot=DPYL5_HUMAN&from=407&to=564&var=D488Y	ENST00000288699		ENSG00000157851	20637		35	1.495		HGNC	p.D488Y		DPYSL5		SNV							ENST00000288699	protein_coding	getma.org/?cm=var&var=hg19,2,27167545,G,T&fts=all		hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF58,Superfamily_domains:SSF51338		D/Y		T	low	1620/5209		getma.org/?cm=msa&ty=f&p=DPYL5_HUMAN&rb=407&re=564&var=D488Y	deleterious(0.01)	Q53T73_HUMAN,Q53SW3_HUMAN,E9PHT0_HUMAN,E7EWB4_HUMAN,E7ESV0_HUMAN			YES	DPYSL5,missense_variant,p.Asp488Tyr,ENST00000288699,NM_001253724.1,NM_020134.3;DPYSL5,missense_variant,p.Asp488Tyr,ENST00000401478,NM_001253723.1;DPYSL5,non_coding_transcript_exon_variant,,ENST00000484882,;							MODERATE	1462/1695	D488Y	DPYL5_HUMAN			Transcript		benign(0.077)	.	ENSP00000288699		CCDS1730.1			1	
DMGDH	0	LGGM	GRCh37	5	78347308	78347308	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	28	18	.	.	ENST00000255189.3:c.547G>A	p.Ala183Thr	p.A183T	ENST00000255189	NM_013391.3	183	Gct/Act	0	1	1	UPI000013CE96	0	getma.org/pdb.php?prot=M2GD_HUMAN&from=51&to=414&var=A183T	ENST00000255189		ENSG00000132837	24475		46	2.215		HGNC	p.A22T		DMGDH		SNV			1				ENST00000523732	protein_coding	getma.org/?cm=var&var=hg19,5,78347308,C,T&fts=all		hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF19,Pfam_domain:PF01266,Gene3D:3.30.9.10,Superfamily_domains:SSF51905		A/T		T	medium	576/3097		getma.org/?cm=msa&ty=f&p=M2GD_HUMAN&rb=51&re=414&var=A183T	deleterious(0.02)				YES	DMGDH,missense_variant,p.Ala183Thr,ENST00000255189,NM_013391.3;DMGDH,missense_variant,p.Ala22Thr,ENST00000523732,;DMGDH,intron_variant,,ENST00000380311,;DMGDH,intron_variant,,ENST00000540686,;DMGDH,downstream_gene_variant,,ENST00000520388,;DMGDH,3_prime_UTR_variant,,ENST00000524206,;DMGDH,intron_variant,,ENST00000518477,;DMGDH,intron_variant,,ENST00000517853,;DMGDH,intron_variant,,ENST00000521052,;							MODERATE	547/2601	A183T	M2GD_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000255189		CCDS4044.1			1	
GORASP2	0	LGGM	GRCh37	2	171822386	171822386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	31	19	.	.	ENST00000234160.4:c.1105C>T	p.Pro369Ser	p.P369S	ENST00000234160	NM_015530.4	369	Ccc/Tcc	0	1	1	UPI000007373B	0	NA	ENST00000234160		ENSG00000115806	17500		50	1.725		HGNC	p.P369S		GORASP2		SNV							ENST00000234160	protein_coding	getma.org/?cm=var&var=hg19,2,171822386,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1		P/S		T	low	1920/3173		getma.org/?cm=msa&ty=f&p=GORS2_HUMAN&rb=206&re=405&var=P369S	tolerated(0.07)	B4DQF1_HUMAN			YES	GORASP2,missense_variant,p.Pro369Ser,ENST00000234160,NM_015530.4,NM_001201428.1;GORASP2,missense_variant,p.Pro381Ser,ENST00000452526,;GORASP2,non_coding_transcript_exon_variant,,ENST00000493692,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,non_coding_transcript_exon_variant,,ENST00000486498,;							MODERATE	1105/1359	P369S	GORS2_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000234160		CCDS33325.1			1	
FAM187A	0	LGGM	GRCh37	17	42981646	42981646	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091227	H091227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	52	19	.	.	ENST00000331733.4:c.449T>A	p.Phe150Tyr	p.F150Y	ENST00000331733	NM_001258399.1	150	tTc/tAc	0	1	1	UPI000013E667	0		ENST00000331733		ENSG00000214447	35153		71			HGNC	p.F150Y		FAM187A		SNV							ENST00000412523	protein_coding			hmmpanther:PTHR32178,hmmpanther:PTHR32178:SF3		F/Y		A		2285/3397			tolerated(0.06)				YES	FAM187A,missense_variant,p.Phe150Tyr,ENST00000331733,NM_001258399.1,NM_213607.2;FAM187A,missense_variant,p.Phe150Tyr,ENST00000412523,;CCDC103,3_prime_UTR_variant,,ENST00000417826,NM_001258399.1,NM_213607.2;EFTUD2,upstream_gene_variant,,ENST00000426333,NM_001142605.1,NM_004247.3,NM_001258354.1;EFTUD2,upstream_gene_variant,,ENST00000591382,NM_001258353.1;EFTUD2,upstream_gene_variant,,ENST00000592576,;GFAP,downstream_gene_variant,,ENST00000253408,NM_002055.4;EFTUD2,upstream_gene_variant,,ENST00000402521,;CCDC103,downstream_gene_variant,,ENST00000410006,NM_001258395.1;CCDC103,downstream_gene_variant,,ENST00000357776,NM_001258398.1,NM_001258396.1;CCDC103,downstream_gene_variant,,ENST00000577339,;CCDC103,downstream_gene_variant,,ENST00000410027,NM_001258397.1;GFAP,downstream_gene_variant,,ENST00000588735,;EFTUD2,upstream_gene_variant,,ENST00000593072,;GFAP,downstream_gene_variant,,ENST00000591880,;GFAP,downstream_gene_variant,,ENST00000586125,;AC015936.3,intron_variant,,ENST00000441312,;GFAP,downstream_gene_variant,,ENST00000592706,;GFAP,downstream_gene_variant,,ENST00000588640,;GFAP,downstream_gene_variant,,ENST00000592065,;GFAP,downstream_gene_variant,,ENST00000589701,;EFTUD2,upstream_gene_variant,,ENST00000589825,;GFAP,downstream_gene_variant,,ENST00000585543,;EFTUD2,upstream_gene_variant,,ENST00000592408,;EFTUD2,upstream_gene_variant,,ENST00000590105,;							MODERATE	449/1242		F187A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000329499					1	
RP1	0	LGGM	GRCh37	8	55541263	55541263	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	79	19	.	.	ENST00000220676.1:c.4821C>T	p.Ser1607=	p.S1607=	ENST00000220676	NM_006269.1	1607	tcC/tcT	0	1	1	UPI000013455B	0		ENST00000220676		ENSG00000104237	10263		98			HGNC	p.S1607S		RP1		SNV			1				ENST00000220676	protein_coding			hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		S		T		4969/7100				A0FDN2_HUMAN			YES	RP1,synonymous_variant,p.=,ENST00000220676,NM_006269.1;							LOW	4821/6471		RP1_HUMAN			Transcript			.	ENSP00000220676		CCDS6160.1			1	
PDCD4	0	LGGM	GRCh37	10	112649358	112649358	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	85	19	.	.	ENST00000280154.7:c.845A>G	p.Tyr282Cys	p.Y282C	ENST00000280154	NM_014456.4	282	tAc/tGc	0	1	1	UPI000013FD3F	0	getma.org/pdb.php?prot=PDCD4_HUMAN&from=163&to=284&var=Y282C	ENST00000280154		ENSG00000150593	8763		104	2.39		HGNC	p.Y271C		PDCD4		SNV							ENST00000393104	protein_coding	getma.org/?cm=var&var=hg19,10,112649358,A,G&fts=all		Gene3D:1.25.40.180,PROSITE_profiles:PS51366,hmmpanther:PTHR12626,hmmpanther:PTHR12626:SF3,Superfamily_domains:SSF48371		Y/C		G	medium	1119/3602		getma.org/?cm=msa&ty=f&p=PDCD4_HUMAN&rb=163&re=284&var=Y282C	deleterious(0.04)				YES	PDCD4,missense_variant,p.Tyr271Cys,ENST00000393104,NM_145341.3;PDCD4,missense_variant,p.Tyr282Cys,ENST00000280154,NM_014456.4,NM_001199492.1;PDCD4,downstream_gene_variant,,ENST00000444997,;PDCD4,non_coding_transcript_exon_variant,,ENST00000481353,;PDCD4,non_coding_transcript_exon_variant,,ENST00000489049,;PDCD4,non_coding_transcript_exon_variant,,ENST00000483595,;PDCD4,intron_variant,,ENST00000462577,;PDCD4,upstream_gene_variant,,ENST00000498367,;PDCD4,downstream_gene_variant,,ENST00000492932,;PDCD4,downstream_gene_variant,,ENST00000483670,;PDCD4,downstream_gene_variant,,ENST00000467574,;							MODERATE	845/1410	Y282C	PDCD4_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000280154		CCDS7567.1			1	
ECD	0	LGGM	GRCh37	10	74914070	74914070	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	24	21	.	.	ENST00000430082.2:c.727C>T	p.Leu243=	p.L243=	ENST00000430082	NM_001135752.1	243	Ctg/Ttg	0	1		UPI000013592B	0		ENST00000372979		ENSG00000122882	17029		45			HGNC	p.L217L	rs760801723	ECD		SNV							ENST00000413026	protein_coding			Pfam_domain:PF07093,hmmpanther:PTHR13060		L		A		934/3069	3.00E-05			C9J316_HUMAN				ECD,synonymous_variant,p.=,ENST00000372979,NM_007265.2;ECD,synonymous_variant,p.=,ENST00000430082,NM_001135752.1;ECD,synonymous_variant,p.=,ENST00000454759,NM_001135753.1;ECD,synonymous_variant,p.=,ENST00000453402,;ECD,synonymous_variant,p.=,ENST00000413026,;ECD,downstream_gene_variant,,ENST00000610256,;ECD,intron_variant,,ENST00000484976,;							LOW	727/1935		SGT1_HUMAN			Transcript			.	ENSP00000362070	1.65E-05	CCDS7321.1			1	
MYH8	0	LGGM	GRCh37	17	10304451	10304451	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	30	22	.	.	ENST00000403437.2:c.3166C>T	p.Arg1056Trp	p.R1056W	ENST00000403437	NM_002472.2	1056	Cgg/Tgg	0	1	1	UPI000012FB7D	0	NA	ENST00000403437		ENSG00000133020	7578		52	4.11		HGNC	p.R1056W		MYH8		SNV			1				ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10304451,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Superfamily_domains:SSF90257		R/W		A	high	3261/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=970&re=1070&var=R1056W	deleterious(0)				YES	MYH8,missense_variant,p.Arg1056Trp,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	3166/5814	R1056W	MYH8_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000384330		CCDS11153.1			1	
COL3A1	0	LGGM	GRCh37	2	189875615	189875615	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	37	23	.	.	ENST00000304636.3:c.4253C>T	p.Thr1418Met	p.T1418M	ENST00000304636	NM_000090.3	1418	aCg/aTg	0	1	1	UPI0000456EBA	0	NA	ENST00000304636		ENSG00000168542	2201		60	1.825		HGNC	p.T1418M		COL3A1		SNV			1				ENST00000304636	protein_coding	getma.org/?cm=var&var=hg19,2,189875615,C,T&fts=all		SMART_domains:SM00038,Pfam_domain:PF01410,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415,PROSITE_profiles:PS51461		T/M		T	low	4423/5543		getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=1248&re=1465&var=T1418M		Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,missense_variant,p.Thr1418Met,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Thr1115Met,ENST00000317840,;COL3A1,splice_region_variant,,ENST00000487010,;							MODERATE	4253/4401	T1418M	CO3A1_HUMAN			Transcript		unknown(0)	.	ENSP00000304408		CCDS2297.1			1	
PIAS4	0	LGGM	GRCh37	19	4012948	4012948	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	36	24	.	.	ENST00000262971.2:c.55G>A	p.Asp19Asn	p.D19N	ENST00000262971	NM_015897.2	19	Gac/Aac	0	1	1	UPI0000073C15	0	getma.org/pdb.php?prot=PIAS4_HUMAN&from=12&to=46&var=D19N	ENST00000262971		ENSG00000105229	17002		60	1.04		HGNC	p.D19N		PIAS4		SNV							ENST00000262971	protein_coding	getma.org/?cm=var&var=hg19,19,4012948,G,A&fts=all		PROSITE_profiles:PS50800,hmmpanther:PTHR10782,Gene3D:1.10.720.30,SMART_domains:SM00513,Superfamily_domains:SSF68906		D/N		A	low	170/3159		getma.org/?cm=msa&ty=f&p=PIAS4_HUMAN&rb=12&re=46&var=D19N	deleterious(0)	Q05DS6_HUMAN			YES	PIAS4,missense_variant,p.Asp19Asn,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,;							MODERATE	55/1533	D19N	PIAS4_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000262971		CCDS12118.1			1	
RYR2	0	LGGM	GRCh37	1	237972325	237972325	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	252	25	.	.	ENST00000366574.2:c.14423A>G	p.Asp4808Gly	p.D4808G	ENST00000366574	NM_001035.2	4808	gAt/gGt	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		277	2.43		HGNC	p.D241G		RYR2		SNV			1				ENST00000536033	protein_coding	getma.org/?cm=var&var=hg19,1,237972325,A,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		D/G		G	medium	14740/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=4706&re=4866&var=D4808G		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Asp4808Gly,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Asp4792Gly,ENST00000542537,;RYR2,missense_variant,p.Asp4814Gly,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;							MODERATE	14423/14904	D4808G	RYR2_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000355533		CCDS55691.1			1	
SCN7A	0	LGGM	GRCh37	2	167334097	167334097	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091227	H091227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	38	25	.	.	ENST00000409855.1:c.110A>T	p.Asp37Val	p.D37V	ENST00000409855	NM_002976.3	37	gAc/gTc	0	1	1	UPI0000209019	0	NA	ENST00000409855		ENSG00000136546	10594		63	1.575		HGNC	p.D37V		SCN7A		SNV							ENST00000409855	protein_coding	getma.org/?cm=var&var=hg19,2,167334097,T,A&fts=all				D/V		A	low	237/7183		getma.org/?cm=msa&ty=f&p=SCN7A_HUMAN&rb=1&re=145&var=D37V	tolerated(0.1)	Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN			YES	SCN7A,missense_variant,p.Asp37Val,ENST00000409855,NM_002976.3;SCN7A,missense_variant,p.Asp37Val,ENST00000419992,;SCN7A,missense_variant,p.Asp37Val,ENST00000441411,;SCN7A,missense_variant,p.Asp37Val,ENST00000424326,;							MODERATE	110/5049	D37V	SCN7A_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000386796		CCDS46442.1			1	
IGKV3D-11	0	LGGM	GRCh37	2	90212096	90212096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	25	27	.	.	ENST00000390277.2:c.188C>T	p.Ala63Val	p.A63V	ENST00000390277		63	gCt/gTt	0	1	1	UPI000173A59B	0		ENST00000390277		ENSG00000211632	5823		52			HGNC	p.A63V		IGKV3D-11		SNV							ENST00000390277	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF118,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/V		T		285/442			tolerated(0.06)				YES	IGKV3D-11,missense_variant,p.Ala63Val,ENST00000390277,;							MODERATE	188/345					Transcript		benign(0.038)	.	ENSP00000374812					1	
MUC16	0	LGGM	GRCh37	19	9060818	9060818	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	98	27	.	.	ENST00000397910.4:c.26628C>T	p.Ser8876=	p.S8876=	ENST00000397910	NM_024690.2	8876	agC/agT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		125			HGNC	p.S8876S		MUC16		SNV							ENST00000397910	protein_coding			Low_complexity_(Seg):seg		S		A		26832/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	26628/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
IRF2	0	LGGM	GRCh37	4	185339685	185339685	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	8	28	.	.	ENST00000393593.3:c.364+1G>T		p.X122_splice	ENST00000393593	NM_002199.3			0	1	1	UPI000012D888	0		ENST00000393593		ENSG00000168310	6117		36			HGNC	p.G122V		IRF2		SNV							ENST00000512020	protein_coding							A		-/2303				K4DIA5_HUMAN,D6RB08_HUMAN,D6R9N5_HUMAN			YES	IRF2,splice_donor_variant,,ENST00000393593,NM_002199.3;IRF2,splice_donor_variant,,ENST00000507523,;IRF2,splice_donor_variant,,ENST00000505067,;IRF2,splice_donor_variant,,ENST00000510814,;IRF2,splice_donor_variant,,ENST00000506230,;IRF2,splice_donor_variant,,ENST00000502750,;IRF2,non_coding_transcript_exon_variant,,ENST00000512020,;IRF2,splice_donor_variant,,ENST00000509274,;							HIGH	364/1050		IRF2_HUMAN			Transcript			.	ENSP00000377218		CCDS3835.1			1	
EPHB1	0	LGGM	GRCh37	3	134851815	134851815	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	48	28	.	.	ENST00000398015.3:c.1221G>C	p.Gln407His	p.Q407H	ENST00000398015	NM_004441.4	407	caG/caC	0	1	1	UPI000012A07E	0	getma.org/pdb.php?prot=EPHB1_HUMAN&from=324&to=418&var=Q407H	ENST00000398015		ENSG00000154928	3392		76	2.11		HGNC	p.Q407H	rs763395281	EPHB1		SNV							ENST00000398015	protein_coding	getma.org/?cm=var&var=hg19,3,134851815,G,C&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF173,Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,Superfamily_domains:SSF49265		Q/H		C	medium	1591/4672		getma.org/?cm=msa&ty=f&p=EPHB1_HUMAN&rb=324&re=418&var=Q407H	tolerated(0.09)	C9K090_HUMAN,C9JB88_HUMAN,C9J6S4_HUMAN,C9J466_HUMAN,B3KTB2_HUMAN			YES	EPHB1,missense_variant,p.Gln407His,ENST00000398015,NM_004441.4;EPHB1,5_prime_UTR_variant,,ENST00000493838,;EPHB1,downstream_gene_variant,,ENST00000488154,;EPHB1,non_coding_transcript_exon_variant,,ENST00000488992,;EPHB1,downstream_gene_variant,,ENST00000482618,;	0.000116						MODERATE	1221/2955	Q407H	EPHB1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000381097	8.24E-06	CCDS46921.1			1	
RIF1	0	LGGM	GRCh37	2	152330551	152330551	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091227	H091227N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	92	29	.	.	ENST00000243326.5:c.7169A>T	p.Lys2390Ile	p.K2390I	ENST00000243326		2390	aAa/aTa	0	1	1	UPI000023729F	0	NA	ENST00000243326		ENSG00000080345	23207		121	1.04		HGNC	p.K2364I		RIF1		SNV							ENST00000430328	protein_coding	getma.org/?cm=var&var=hg19,2,152330551,A,T&fts=all		hmmpanther:PTHR22928		K/I		T	low	7652/15003		getma.org/?cm=msa&ty=f&p=RIF1_HUMAN&rb=2368&re=2472&var=K2390I	deleterious(0)	C9J1D6_HUMAN,B4DRJ4_HUMAN			YES	RIF1,missense_variant,p.Lys2390Ile,ENST00000243326,;RIF1,missense_variant,p.Lys2364Ile,ENST00000453091,NM_001177663.1;RIF1,missense_variant,p.Lys2364Ile,ENST00000430328,NM_001177665.1;RIF1,missense_variant,p.Lys2390Ile,ENST00000444746,NM_018151.4;RIF1,missense_variant,p.Lys2364Ile,ENST00000428287,NM_001177664.1;RIF1,missense_variant,p.Lys664Ile,ENST00000454583,;							MODERATE	7169/7419	K2390I	RIF1_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000243326		CCDS2194.1			1	
AUTS2	0	LGGM	GRCh37	7	70246738	70246738	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	40	29	.	.	ENST00000342771.4:c.2142C>G	p.Ala714=	p.A714=	ENST00000342771	NM_015570.2	714	gcC/gcG	0	1	1	UPI0000126665	0		ENST00000342771		ENSG00000158321	14262		69			HGNC	p.A714A		AUTS2		SNV			1				ENST00000342771	protein_coding			Pfam_domain:PF15336,Prints_domain:PR02044,hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5,Low_complexity_(Seg):seg		A		G		2463/6173				Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN			YES	AUTS2,synonymous_variant,p.=,ENST00000342771,NM_015570.2;AUTS2,synonymous_variant,p.=,ENST00000406775,NM_001127231.1;AUTS2,upstream_gene_variant,,ENST00000418686,;AUTS2,downstream_gene_variant,,ENST00000443672,;AUTS2,synonymous_variant,p.=,ENST00000449547,;AUTS2,3_prime_UTR_variant,,ENST00000439256,;AUTS2,non_coding_transcript_exon_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000464768,;AUTS2,downstream_gene_variant,,ENST00000465899,;							LOW	2142/3780		AUTS2_HUMAN			Transcript			.	ENSP00000344087		CCDS5539.1			1	
TGM7	0	LGGM	GRCh37	15	43571988	43571988	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	35	34	.	.	ENST00000452443.2:c.1513G>A	p.Asp505Asn	p.D505N	ENST00000452443	NM_052955.2	505	Gac/Aac	0	1	1	UPI0000049F68	0	getma.org/pdb.php?prot=TGM7_HUMAN&from=363&to=562&var=D505N	ENST00000452443		ENSG00000159495	30790		69	2.38		HGNC	p.D505N		TGM7		SNV							ENST00000452443	protein_coding	getma.org/?cm=var&var=hg19,15,43571988,C,T&fts=all		Gene3D:2.60.40.10,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Superfamily_domains:SSF49309		D/N		T	medium	1518/2313		getma.org/?cm=msa&ty=f&p=TGM7_HUMAN&rb=363&re=562&var=D505N	tolerated(0.05)				YES	TGM7,missense_variant,p.Asp505Asn,ENST00000452443,NM_052955.2;TGM7,upstream_gene_variant,,ENST00000562372,;							MODERATE	1513/2133	D505N	TGM7_HUMAN			Transcript		benign(0.085)	.	ENSP00000389466		CCDS32213.1			1	
CLTC	0	LGGM	GRCh37	17	57733249	57733249	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	39	35	.	.	ENST00000269122.3:c.830C>G	p.Thr277Ser	p.T277S	ENST00000269122	NM_004859.3	277	aCc/aGc	0	1	1	UPI0000127ABD	0	getma.org/pdb.php?prot=CLH1_HUMAN&from=235&to=330&var=T277S	ENST00000269122		ENSG00000141367	2092		74	2.76		HGNC	p.T277S		CLTC		SNV			1				ENST00000269122	protein_coding	getma.org/?cm=var&var=hg19,17,57733249,C,G&fts=all		hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096		T/S		G	medium	1104/7760		getma.org/?cm=msa&ty=f&p=CLH1_HUMAN&rb=235&re=330&var=T277S	tolerated(0.08)	Q49AL0_HUMAN			YES	CLTC,missense_variant,p.Thr277Ser,ENST00000269122,NM_004859.3,NM_001288653.1;CLTC,missense_variant,p.Thr277Ser,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,non_coding_transcript_exon_variant,,ENST00000472129,;CLTC,upstream_gene_variant,,ENST00000483176,;CLTC,downstream_gene_variant,,ENST00000584313,;							MODERATE	830/5028	T277S	CLH1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000269122		CCDS32696.1			1	
SPATA8	0	LGGM	GRCh37	15	97328340	97328340	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	39	36	.	.	ENST00000328504.3:c.311G>T	p.Trp104Leu	p.W104L	ENST00000328504	NM_173499.3	104	tGg/tTg	0	1	1	UPI000006FC10	0	NA	ENST00000328504		ENSG00000185594	28676		75	0		HGNC	p.W104L		SPATA8		SNV							ENST00000328504	protein_coding	getma.org/?cm=var&var=hg19,15,97328340,G,T&fts=all				W/L		T	neutral	578/1083		getma.org/?cm=msa&ty=f&p=SPAT8_HUMAN&rb=1&re=105&var=W104L	deleterious_low_confidence(0)				YES	SPATA8,missense_variant,p.Trp104Leu,ENST00000328504,NM_173499.3;SPATA8,synonymous_variant,p.=,ENST00000558553,;SPATA8-AS1,upstream_gene_variant,,ENST00000558722,;SPATA8-AS1,upstream_gene_variant,,ENST00000560888,;SPATA8,non_coding_transcript_exon_variant,,ENST00000560327,;SPATA8,downstream_gene_variant,,ENST00000561002,;							MODERATE	311/318	W104L	SPAT8_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000328149		CCDS10376.1			1	
NPR3	0	LGGM	GRCh37	5	32783084	32783084	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091227	H091227N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	49	38	.	.	ENST00000265074.8:c.1376T>C	p.Ile459Thr	p.I459T	ENST00000265074	NM_001204375.1	459	aTa/aCa	0	1	1	UPI0000125B46	0	getma.org/pdb.php?prot=ANPRC_HUMAN&from=425&to=480&var=I459T	ENST00000265074		ENSG00000113389	7945		87	1.95		HGNC	p.I459T		NPR3		SNV							ENST00000265074	protein_coding	getma.org/?cm=var&var=hg19,5,32783084,T,C&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2		I/T		C	medium	1719/7337		getma.org/?cm=msa&ty=f&p=ANPRC_HUMAN&rb=425&re=480&var=I459T	tolerated(0.71)				YES	NPR3,missense_variant,p.Ile459Thr,ENST00000265074,NM_001204375.1,NM_000908.3;NPR3,missense_variant,p.Ile243Thr,ENST00000434067,;NPR3,missense_variant,p.Ile459Thr,ENST00000415167,;NPR3,missense_variant,p.Ile243Thr,ENST00000415685,NM_001204376.1;NPR3,missense_variant,p.Ile236Thr,ENST00000509104,;AC026703.2,downstream_gene_variant,,ENST00000607869,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;							MODERATE	1376/1626	I459T	ANPRC_HUMAN			Transcript		benign(0.011)	.	ENSP00000265074		CCDS56357.1			1	
C11orf84	0	LGGM	GRCh37	11	63586328	63586328	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	20	41	.	.	ENST00000294244.4:c.788G>A	p.Arg263Gln	p.R263Q	ENST00000294244	NM_138471.1	263	cGa/cAa	0	1	1	UPI00001BDB3C	0	NA	ENST00000294244		ENSG00000168005	25115		61	1.78		HGNC	p.R38Q	rs756592176,COSM348503	C11orf84	6.06E-05	SNV						0,1	ENST00000540893	protein_coding	getma.org/?cm=var&var=hg19,11,63586328,G,A&fts=all				R/Q		A	low	1087/2024		getma.org/?cm=msa&ty=f&p=CK084_HUMAN&rb=8&re=379&var=R263Q	tolerated(0.06)				YES	C11orf84,missense_variant,p.Arg263Gln,ENST00000294244,NM_138471.1;C11orf84,missense_variant,p.Arg38Gln,ENST00000540893,;C11orf84,upstream_gene_variant,,ENST00000535820,;					0,1		MODERATE	788/1146	R263Q	CK084_HUMAN			Transcript		benign(0.104)	.	ENSP00000294244	8.24E-06	CCDS31594.1			1	
SCN10A	0	LGGM	GRCh37	3	38835233	38835233	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	73	51	.	.	ENST00000449082.2:c.269G>A	p.Arg90Gln	p.R90Q	ENST00000449082	NM_006514.2	90	cGg/cAg	0	1	1	UPI0000209BDA	0	NA	ENST00000449082		ENSG00000185313	10582		124	1.7		HGNC	p.R90Q		SCN10A		SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38835233,C,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23		R/Q		T	low	269/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1&re=154&var=R90Q	deleterious(0)				YES	SCN10A,missense_variant,p.Arg90Gln,ENST00000449082,NM_006514.2;							MODERATE	269/5871	R90Q	SCNAA_HUMAN			Transcript		benign(0.015)	.	ENSP00000390600		CCDS33736.1			1	
IQCA1	0	LGGM	GRCh37	2	237300652	237300652	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	74	64	.	.	ENST00000409907.3:c.1380G>A	p.Glu460=	p.E460=	ENST00000409907	NM_024726.4	460	gaG/gaA	0	1	1	UPI000000DA5B	0		ENST00000409907		ENSG00000132321	26195		138			HGNC	p.E460E		IQCA1		SNV							ENST00000254653	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2		E		T		1655/3281				Q53SG8_HUMAN			YES	IQCA1,synonymous_variant,p.=,ENST00000409907,NM_024726.4;IQCA1,synonymous_variant,p.=,ENST00000309507,NM_001270585.1;IQCA1,synonymous_variant,p.=,ENST00000431676,NM_001270584.1;IQCA1,synonymous_variant,p.=,ENST00000418802,;AC019068.2,intron_variant,,ENST00000413353,;IQCA1,non_coding_transcript_exon_variant,,ENST00000467572,;IQCA1,downstream_gene_variant,,ENST00000465621,;IQCA1,synonymous_variant,p.=,ENST00000254653,;							LOW	1380/2469		IQCA1_HUMAN			Transcript			.	ENSP00000387347		CCDS46549.1			1	
REST	0	LGGM	GRCh37	4	57797539	57797539	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	230	99	.	.	ENST00000309042.7:c.2515G>T	p.Glu839Ter	p.E839*	ENST00000309042	NM_005612.4	839	Gaa/Taa	0	1	1	UPI000013FBF6	0	NA	ENST00000309042		ENSG00000084093	9966		329	0		HGNC	p.E839X	COSM4125317	REST		SNV						1	ENST00000309042	protein_coding	getma.org/?cm=var&var=hg19,4,57797539,G,T&fts=all				E/*		T	NA	2829/7300		NA					YES	REST,stop_gained,p.Glu839Ter,ENST00000309042,NM_005612.4,NM_001193508.1;REST,downstream_gene_variant,,ENST00000514063,;					1		HIGH	2515/3294	E839*	REST_HUMAN			Transcript			.	ENSP00000311816		CCDS3509.1			1	
MUC16	0	LGGM	GRCh37	19	9066583	9066583	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091227	H091227N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	107	100	.	.	ENST00000397910.4:c.20863G>A	p.Glu6955Lys	p.E6955K	ENST00000397910	NM_024690.2	6955	Gag/Aag	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		207	0.895		HGNC	p.E6955K		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9066583,C,T&fts=all				E/K		T	low	21067/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=6850&re=7305&var=E6957K		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Glu6955Lys,ENST00000397910,NM_024690.2;							MODERATE	20863/43524	E6957K				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
TXNDC2	0	LGGM	GRCh37	18	9887173	9887175	+	inframe_deletion	In_Frame_Del	DEL	CAG	CAG	-	novel	by Submitter	H091227	H091227N.bam	CAG	CAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	93	102	.	.	ENST00000306084.6:c.698_700del	p.Gln233del	p.Q233del	ENST00000306084	NM_001098529.1	233	CAG/-	0	1	1	UPI000013EAE7	0		ENST00000306084		ENSG00000168454	16470		195			HGNC	p.233_233del		TXNDC2		deletion							ENST00000306084	protein_coding			Pfam_domain:PF03157		Q/-		-		896-898/1873				F5H6S7_HUMAN			YES	TXNDC2,inframe_deletion,p.Gln166del,ENST00000357775,NM_032243.5;TXNDC2,inframe_deletion,p.Gln233del,ENST00000306084,NM_001098529.1;TXNDC2,intron_variant,,ENST00000536353,;TXNDC2,downstream_gene_variant,,ENST00000584255,;TXNDC2,downstream_gene_variant,,ENST00000426718,;							MODERATE	697-699/1662		TXND2_HUMAN			Transcript	1		.	ENSP00000304908		CCDS42414.1			1	
POTEF	0	LGGM	GRCh37	2	130877942	130877942	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091227	H091227N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091227N.bam, H091227T.bam	Illumina HiSeq	192	148	.	.	ENST00000357462.5:c.147C>T	p.His49=	p.H49=	ENST00000357462		49	caC/caT	0	1	1	UPI0000418FEA	0		ENST00000357462		ENSG00000196604	33905	0.000173	340			HGNC	p.H49H	rs372593701	POTEF	6.06E-05	SNV	A:0.0054			0.0067			ENST00000361163	protein_coding		A:0.0098	hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46		H	A:0	A		241/4031					A:0	A:0	YES	POTEF,synonymous_variant,p.=,ENST00000357462,;POTEF,synonymous_variant,p.=,ENST00000409914,NM_001099771.2;POTEF,synonymous_variant,p.=,ENST00000361163,;POTEF,synonymous_variant,p.=,ENST00000360967,;		A:0.0026					LOW	147/3228		POTEF_HUMAN		A:0	Transcript			common_variant	ENSP00000350052	0.000577	CCDS46409.1	0.00111	A:0	1	
ARHGAP23	0	LGGM	GRCh37	17	36636008	36636008	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	10	2	.	.	ENST00000431231.2:c.2513C>T	p.Pro838Leu	p.P838L	ENST00000431231	NM_001199417.1	838	cCc/cTc	0	1	1	UPI0000F3BE51	0	NA	ENST00000431231		ENSG00000225485	29293		12	0.69		HGNC	p.P838L	COSM978447	ARHGAP23		SNV						1	ENST00000431231	protein_coding	getma.org/?cm=var&var=hg19,17,36636008,C,T&fts=all		hmmpanther:PTHR23175,hmmpanther:PTHR23175:SF5		P/L		T	neutral	2581/5964		getma.org/?cm=msa&ty=f&p=RHG23_HUMAN&rb=809&re=919&var=P838L	tolerated(0.13)	H0YHF3_HUMAN,F8W040_HUMAN,C9JVU9_HUMAN			YES	ARHGAP23,missense_variant,p.Pro744Leu,ENST00000443378,;ARHGAP23,missense_variant,p.Pro838Leu,ENST00000431231,NM_001199417.1;ARHGAP23,missense_variant,p.Pro838Leu,ENST00000437668,;ARHGAP23,missense_variant,p.Pro72Leu,ENST00000581782,;ARHGAP23,3_prime_UTR_variant,,ENST00000548333,;ARHGAP23,upstream_gene_variant,,ENST00000578665,;					1		MODERATE	2513/4476	P838L	RHG23_HUMAN			Transcript		benign(0.101)	.	ENSP00000393539		CCDS56027.1			1	
TTK	0	LGGM	GRCh37	6	80747708	80747708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	22	3	.	.	ENST00000369798.2:c.2074C>A	p.Pro692Thr	p.P692T	ENST00000369798	NM_003318.4	692	Cca/Aca	0	1	1	UPI0000073C7B	0	getma.org/pdb.php?prot=TTK_HUMAN&from=525&to=791&var=P692T	ENST00000369798		ENSG00000112742	12401		25	3.815		HGNC	p.P691T		TTK		SNV							ENST00000509894	protein_coding	getma.org/?cm=var&var=hg19,6,80747708,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/T		A	high	2185/3010		getma.org/?cm=msa&ty=f&p=TTK_HUMAN&rb=525&re=791&var=P692T	deleterious(0)	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN			YES	TTK,missense_variant,p.Pro691Thr,ENST00000509894,;TTK,missense_variant,p.Pro691Thr,ENST00000230510,;TTK,missense_variant,p.Pro692Thr,ENST00000369798,NM_003318.4,NM_001166691.1;TTK,non_coding_transcript_exon_variant,,ENST00000504590,;							MODERATE	2074/2574	P692T	TTK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358813		CCDS4993.1			1	
ZC3H14	0	LGGM	GRCh37	14	89061293	89061293	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H091269	H091269N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	36	3	.	.	ENST00000251038.5:c.1280-1785T>C		*427*	ENST00000251038	NM_024824.4			0	1	1	UPI00001BDB9B	0	NA	ENST00000251038		ENSG00000100722	20509		39	1.245		HGNC	p.S75P		ZC3H14		SNV			1				ENST00000406216	protein_coding	getma.org/?cm=var&var=hg19,14,89061293,T,C&fts=all						C	low	-/4194		getma.org/?cm=msa&ty=f&p=G3V4R5_HUMAN&rb=1&re=200&var=S75P		G3V572_HUMAN,G3V473_HUMAN,G3V3Y4_HUMAN,G3V2X4_HUMAN,G3V240_HUMAN			YES	ZC3H14,missense_variant,p.Ser75Pro,ENST00000555900,;ZC3H14,missense_variant,p.Ser75Pro,ENST00000318308,NM_207662.3;ZC3H14,missense_variant,p.Ser75Pro,ENST00000406216,;ZC3H14,missense_variant,p.Ser75Pro,ENST00000557737,;ZC3H14,intron_variant,,ENST00000251038,NM_024824.4,NM_001160103.1,NM_001160104.1;ZC3H14,intron_variant,,ENST00000359301,;ZC3H14,intron_variant,,ENST00000302216,NM_207660.3;ZC3H14,intron_variant,,ENST00000555755,;ZC3H14,intron_variant,,ENST00000393514,;ZC3H14,intron_variant,,ENST00000556000,;ZC3H14,intron_variant,,ENST00000556945,;ZC3H14,intron_variant,,ENST00000336693,NM_207661.2;ZC3H14,intron_variant,,ENST00000557607,;ZC3H14,intron_variant,,ENST00000556110,;							MODIFIER	-/2211	S75P	ZC3HE_HUMAN			Transcript			.	ENSP00000251038		CCDS32133.1			1	
C11orf30	0	LGGM	GRCh37	11	76224443	76224443	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	37	3	.	.	ENST00000529032.1:c.1377C>A	p.Ile459=	p.I459=	ENST00000529032		459	atC/atA	0	1		UPI0000071307	0		ENST00000334736		ENSG00000158636	18071		40			HGNC	p.I474I		C11orf30		SNV							ENST00000524767	protein_coding			hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF2		I		A		1520/5508								C11orf30,synonymous_variant,p.=,ENST00000529032,;C11orf30,synonymous_variant,p.=,ENST00000334736,NM_020193.3;C11orf30,synonymous_variant,p.=,ENST00000343878,;C11orf30,synonymous_variant,p.=,ENST00000525038,;C11orf30,synonymous_variant,p.=,ENST00000524767,;C11orf30,synonymous_variant,p.=,ENST00000525919,;C11orf30,synonymous_variant,p.=,ENST00000524490,;C11orf30,synonymous_variant,p.=,ENST00000533248,;C11orf30,synonymous_variant,p.=,ENST00000531998,;C11orf30,synonymous_variant,p.=,ENST00000533972,;							LOW	1377/3969		EMSY_HUMAN			Transcript			.	ENSP00000334130		CCDS8244.1			1	
C2orf62	0	LGGM	GRCh37	2	219222382	219222382	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	34	3	.	.	ENST00000289388.3:c.244C>A	p.Leu82Met	p.L82M	ENST00000289388	NM_198559.1	82	Ctg/Atg	0	1	1	UPI000019B2D3	0	NA	ENST00000289388		ENSG00000158428	25062		37	-0.29		HGNC	p.L82M		C2orf62		SNV							ENST00000289388	protein_coding	getma.org/?cm=var&var=hg19,2,219222382,C,A&fts=all		hmmpanther:PTHR15505,hmmpanther:PTHR15505:SF2		L/M		A	neutral	273/1323		getma.org/?cm=msa&ty=f&p=CB062_HUMAN&rb=1&re=200&var=L82M	tolerated(0.65)				YES	C2orf62,missense_variant,p.Leu82Met,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,;							MODERATE	244/1164	L82M	CB062_HUMAN			Transcript		benign(0.028)	.	ENSP00000289388		CCDS2414.1			1	
THBS2	0	LGGM	GRCh37	6	169637439	169637439	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	13	3	.	.	ENST00000366787.3:c.1303C>A	p.Arg435=	p.R435=	ENST00000366787	NM_003247.2	435	Cgg/Agg	0	1	1	UPI0000231C7F	0		ENST00000366787		ENSG00000186340	11786		16			HGNC	p.R435R		THBS2		SNV			1				ENST00000366787	protein_coding			hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199		R		T		1553/5811				Q6MZL6_HUMAN,Q5RI53_HUMAN			YES	THBS2,splice_region_variant,p.=,ENST00000366787,NM_003247.2;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,non_coding_transcript_exon_variant,,ENST00000461848,;							LOW	1303/3519		TSP2_HUMAN			Transcript			.	ENSP00000355751		CCDS34574.1			1	
BRWD3	0	LGGM	GRCh37	X	79964973	79964973	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	35	3	.	.	ENST00000373275.4:c.2429C>G	p.Ser810Ter	p.S810*	ENST00000373275	NM_153252.4	810	tCa/tGa	0	1	1	UPI000045785B	0	NA	ENST00000373275		ENSG00000165288	17342		38	0		HGNC	p.S810X		BRWD3		SNV			1				ENST00000373275	protein_coding	getma.org/?cm=var&var=hg19,X,79964973,G,C&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF25		S/*		C	NA	2646/11381		NA					YES	BRWD3,stop_gained,p.Ser810Ter,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;RP11-325E14.5,upstream_gene_variant,,ENST00000415494,;							HIGH	2429/5409	S810*	BRWD3_HUMAN			Transcript			.	ENSP00000362372		CCDS14447.1			1	
RPN2	0	LGGM	GRCh37	20	35833266	35833266	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	38	3	.	.	ENST00000237530.6:c.652C>A	p.Leu218Ile	p.L218I	ENST00000237530	NM_002951.3	218	Ctc/Atc	0	1	1	UPI0000000C52	0	NA	ENST00000237530		ENSG00000118705	10382		41	2.02		HGNC	p.L186I		RPN2		SNV							ENST00000373622	protein_coding	getma.org/?cm=var&var=hg19,20,35833266,C,A&fts=all		Pfam_domain:PF05817,hmmpanther:PTHR12640,hmmpanther:PTHR12640:SF0		L/I		A	medium	963/2511		getma.org/?cm=msa&ty=f&p=RPN2_HUMAN&rb=2&re=628&var=L218I	deleterious(0.01)				YES	RPN2,missense_variant,p.Leu218Ile,ENST00000237530,NM_002951.3;RPN2,missense_variant,p.Leu186Ile,ENST00000373622,NM_001135771.1;RPN2,missense_variant,p.Leu234Ile,ENST00000373632,;RPN2,missense_variant,p.Leu61Ile,ENST00000456102,;RPN2,missense_variant,p.Leu93Ile,ENST00000462163,;							MODERATE	652/1896	L218I	RPN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000237530		CCDS13291.1			1	
PLAT	0	LGGM	GRCh37	8	42045454	42045454	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	35	3	.	.	ENST00000220809.4:c.334G>C	p.Glu112Gln	p.E112Q	ENST00000220809	NM_000930.3	112	Gaa/Caa	0	1	1	UPI0000000DD4	0	getma.org/pdb.php?prot=TPA_HUMAN&from=86&to=117&var=E112Q	ENST00000220809		ENSG00000104368	9051		38	0.245		HGNC	p.E112Q		PLAT		SNV							ENST00000519510	protein_coding	getma.org/?cm=var&var=hg19,8,42045454,C,G&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF001145,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF0,Superfamily_domains:SSF57440		E/Q		G	neutral	591/2706		getma.org/?cm=msa&ty=f&p=TPA_HUMAN&rb=86&re=117&var=E112Q	tolerated(0.4)	Q6LBF5_HUMAN,E5RHG4_HUMAN,E5RGA1_HUMAN			YES	PLAT,missense_variant,p.Glu112Gln,ENST00000220809,NM_000930.3;PLAT,missense_variant,p.Glu112Gln,ENST00000270189,;PLAT,missense_variant,p.Glu112Gln,ENST00000429089,;PLAT,missense_variant,p.Glu66Gln,ENST00000352041,NM_033011.2;PLAT,missense_variant,p.Glu112Gln,ENST00000519510,;PLAT,missense_variant,p.Glu112Gln,ENST00000524009,;PLAT,missense_variant,p.Glu112Gln,ENST00000520523,;PLAT,missense_variant,p.Glu112Gln,ENST00000521694,;PLAT,intron_variant,,ENST00000429710,;PLAT,non_coding_transcript_exon_variant,,ENST00000521647,;PLAT,upstream_gene_variant,,ENST00000521042,;PLAT,upstream_gene_variant,,ENST00000524261,;							MODERATE	334/1689	E112Q	TPA_HUMAN			Transcript		benign(0.075)	.	ENSP00000220809		CCDS6126.1			1	
KCNS3	0	LGGM	GRCh37	2	18113430	18113430	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	33	3	.	.	ENST00000403915.1:c.1155C>A	p.Leu385=	p.L385=	ENST00000403915	NM_001282428.1	385	ctC/ctA	0	1		UPI000013E93A	0		ENST00000304101		ENSG00000170745	6302		36			HGNC	p.L385L		KCNS3		SNV							ENST00000403915	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		L		A		1535/2333				C9J187_HUMAN				KCNS3,synonymous_variant,p.=,ENST00000403915,NM_001282428.1;KCNS3,synonymous_variant,p.=,ENST00000304101,NM_002252.3;KCNS3,downstream_gene_variant,,ENST00000419802,;KCNS3,intron_variant,,ENST00000465292,;							LOW	1155/1476		KCNS3_HUMAN			Transcript			.	ENSP00000305824		CCDS1692.1			1	
KTN1	0	LGGM	GRCh37	14	56114798	56114798	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	32	3	.	.	ENST00000395314.3:c.2263C>A	p.Leu755Ile	p.L755I	ENST00000395314	NM_001079521.1	755	Ctt/Att	0	1	1	UPI0000190F88	0	NA	ENST00000395314		ENSG00000126777	6467		35	1.81		HGNC	p.L35I		KTN1		SNV							ENST00000553360	protein_coding	getma.org/?cm=var&var=hg19,14,56114798,C,A&fts=all		hmmpanther:PTHR18864		L/I		A	low	2331/4618		getma.org/?cm=msa&ty=f&p=KTN1_HUMAN&rb=29&re=1019&var=L755I	deleterious(0.02)	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,missense_variant,p.Leu755Ile,ENST00000416613,;KTN1,missense_variant,p.Leu755Ile,ENST00000395314,NM_001079521.1;KTN1,missense_variant,p.Leu755Ile,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,missense_variant,p.Leu755Ile,ENST00000395311,;KTN1,missense_variant,p.Leu755Ile,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Leu755Ile,ENST00000395309,;KTN1,missense_variant,p.Leu755Ile,ENST00000395308,;KTN1,missense_variant,p.Leu50Ile,ENST00000554507,;KTN1,missense_variant,p.Leu50Ile,ENST00000554890,;Y_RNA,upstream_gene_variant,,ENST00000363872,;KTN1,missense_variant,p.Leu755Ile,ENST00000459737,;KTN1,missense_variant,p.Leu35Ile,ENST00000553360,;KTN1,upstream_gene_variant,,ENST00000555164,;							MODERATE	2263/4074	L755I	KTN1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000378725		CCDS41957.1			1	
CSNK1G1	0	LGGM	GRCh37	15	64496660	64496660	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	45	3	.	.	ENST00000303052.7:c.979G>T	p.Asp327Tyr	p.D327Y	ENST00000303052	NM_022048.3	327	Gat/Tat	0	1	1	UPI000003F575	0	getma.org/pdb.php?prot=KC1G1_HUMAN&from=316&to=330&var=D327Y	ENST00000303052		ENSG00000169118	2454		48	3.89		HGNC	p.D327Y		CSNK1G1		SNV							ENST00000303052	protein_coding	getma.org/?cm=var&var=hg19,15,64496660,C,A&fts=all		hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF132,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/Y		A	high	1403/8107		getma.org/?cm=msa&ty=f&p=KC1G1_HUMAN&rb=286&re=360&var=D327Y	deleterious(0)	U3KQP7_HUMAN			YES	CSNK1G1,missense_variant,p.Asp327Tyr,ENST00000303052,NM_022048.3;CSNK1G1,missense_variant,p.Asp327Tyr,ENST00000607537,;CTD-2116N17.1,missense_variant,p.Asp309Tyr,ENST00000606793,;CTD-2116N17.1,missense_variant,p.Asp283Tyr,ENST00000561349,;CSNK1G1,missense_variant,p.Asp327Tyr,ENST00000303032,;CSNK1G1,missense_variant,p.Asp327Tyr,ENST00000606225,;							MODERATE	979/1269	D327Y	KC1G1_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000305777		CCDS10192.2			1	
ANKRD22	0	LGGM	GRCh37	10	90585821	90585821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	46	3	.	.	ENST00000371930.4:c.373G>T	p.Gly125Cys	p.G125C	ENST00000371930	NM_144590.2	125	Ggc/Tgc	0	1	1	UPI000013DCF6	0	getma.org/pdb.php?prot=ANR22_HUMAN&from=104&to=187&var=G125C	ENST00000371930		ENSG00000152766	28321		49	3.605		HGNC	p.G125C		ANKRD22		SNV							ENST00000371930	protein_coding	getma.org/?cm=var&var=hg19,10,90585821,C,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24139,hmmpanther:PTHR24139:SF29,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415		G/C		A	high	584/1596		getma.org/?cm=msa&ty=f&p=ANR22_HUMAN&rb=104&re=187&var=G125C	deleterious(0)				YES	ANKRD22,missense_variant,p.Gly125Cys,ENST00000371930,NM_144590.2;ANKRD22,upstream_gene_variant,,ENST00000476963,;							MODERATE	373/576	G125C	ANR22_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000360998		CCDS7390.1			1	
RESP18	0	LGGM	GRCh37	2	220195546	220195546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	24	3	.	.	ENST00000333527.5:c.284C>T	p.Ala95Val	p.A95V	ENST00000333527	NM_001007089.3	95	gCc/gTc	0	1	1	UPI0000F576C0	0	NA	ENST00000333527		ENSG00000182698	33762		27	1.52		HGNC	p.A95V		RESP18		SNV							ENST00000333527	protein_coding	getma.org/?cm=var&var=hg19,2,220195546,G,A&fts=all		hmmpanther:PTHR17314,hmmpanther:PTHR17314:SF0,Pfam_domain:PF14948		A/V		A	low	284/795		getma.org/?cm=msa&ty=f&p=RES18_HUMAN&rb=2&re=155&var=A53V	tolerated_low_confidence(0.5)				YES	RESP18,missense_variant,p.Ala95Val,ENST00000333527,NM_001007089.3;RESP18,5_prime_UTR_variant,,ENST00000392083,;RESP18,non_coding_transcript_exon_variant,,ENST00000470719,;							MODERATE	284/687	A53V	RES18_HUMAN			Transcript		benign(0.09)	.	ENSP00000330269		CCDS33382.2			1	
SATL1	0	LGGM	GRCh37	X	84363152	84363152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	42	3	.	.	ENST00000509231.1:c.823G>T	p.Asp275Tyr	p.D275Y	ENST00000509231		275	Gac/Tac	0	1		UPI0000F534AB	0	NA	ENST00000395409		ENSG00000184788	27992		45	1.525		HGNC	p.D275Y		SATL1		SNV							ENST00000509231	protein_coding	getma.org/?cm=var&var=hg19,X,84363152,C,A&fts=all				D/Y		A	low	823/2192		getma.org/?cm=msa&ty=f&p=SATL1_HUMAN&rb=1&re=329&var=D88Y	tolerated(0.2)					SATL1,missense_variant,p.Asp275Tyr,ENST00000509231,;SATL1,missense_variant,p.Asp88Tyr,ENST00000395409,;SATL1,missense_variant,p.Asp88Tyr,ENST00000332921,NM_001012980.2;							MODERATE	262/1527	D88Y	SATL1_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000378804					1	
DRD1	0	LGGM	GRCh37	5	174869614	174869614	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	37	3	.	.	ENST00000393752.2:c.489G>A	p.Trp163Ter	p.W163*	ENST00000393752	NM_000794.3	163	tgG/tgA	0	1	1	UPI00000503F5	0	NA	ENST00000393752		ENSG00000184845	3020		40	0		HGNC	p.W163X		DRD1		SNV							ENST00000393752	protein_coding	getma.org/?cm=var&var=hg19,5,174869614,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,Superfamily_domains:SSF81321		W/*		T	NA	1482/4054		NA					YES	DRD1,stop_gained,p.Trp163Ter,ENST00000393752,NM_000794.3;							HIGH	489/1341	W163*	DRD1_HUMAN			Transcript			.	ENSP00000377353		CCDS4393.1			1	
VCX	0	LGGM	GRCh37	X	7811821	7811822	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H091269	H091269N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	9	4	.	.	ENST00000381059.3:c.385_386insG	p.Gln129ArgfsTer?	p.Q129Rfs*?	ENST00000381059	NM_013452.2	129	cag/cGag	0	1	1	UPI0000138291	0		ENST00000381059		ENSG00000182583	12667		13			HGNC	p.Q129fs		VCX		insertion							ENST00000381059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231,Pfam_domain:PF15231		Q/RX		G		604-605/967							YES	VCX,frameshift_variant,p.Gln129ArgfsTer?,ENST00000381059,NM_013452.2;VCX,intron_variant,,ENST00000341408,;							HIGH	385-386/621		VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
GORASP2	0	LGGM	GRCh37	2	171818220	171818220	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091269	H091269N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	83	4	.	.	ENST00000234160.4:c.871A>T	p.Thr291Ser	p.T291S	ENST00000234160	NM_015530.4	291	Act/Tct	0	1	1	UPI000007373B	0	NA	ENST00000234160		ENSG00000115806	17500		87	0.205		HGNC	p.T291S		GORASP2		SNV							ENST00000234160	protein_coding	getma.org/?cm=var&var=hg19,2,171818220,A,T&fts=all		hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1		T/S		T	neutral	1686/3173		getma.org/?cm=msa&ty=f&p=GORS2_HUMAN&rb=206&re=405&var=T291S	tolerated(0.74)	B4DQF1_HUMAN			YES	GORASP2,missense_variant,p.Thr291Ser,ENST00000234160,NM_015530.4,NM_001201428.1;GORASP2,missense_variant,p.Thr303Ser,ENST00000452526,;GORASP2,non_coding_transcript_exon_variant,,ENST00000493692,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,non_coding_transcript_exon_variant,,ENST00000486498,;							MODERATE	871/1359	T291S	GORS2_HUMAN			Transcript		benign(0.001)	.	ENSP00000234160		CCDS33325.1			1	
C10orf12	0	LGGM	GRCh37	10	98744254	98744254	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	68	4	.	.	ENST00000286067.2:c.3107G>A	p.Arg1036His	p.R1036H	ENST00000286067	NM_015652.2	1036	cGt/cAt	0	1	1	UPI000006F242	0	NA	ENST00000286067		ENSG00000155640	23420	8.66E-05	72	1.39		HGNC	p.R1036H	rs779417135	C10orf12	6.07E-05	SNV				0.000195			ENST00000286067	protein_coding	getma.org/?cm=var&var=hg19,10,98744254,G,A&fts=all		Pfam_domain:PF15090,hmmpanther:PTHR14931,hmmpanther:PTHR14931:SF2		R/H		A	low	3214/4542	9.03E-05	getma.org/?cm=msa&ty=f&p=CJ012_HUMAN&rb=777&re=1080&var=R1036H	tolerated(0.12)				YES	C10orf12,missense_variant,p.Arg1036His,ENST00000286067,NM_015652.2;LCOR,downstream_gene_variant,,ENST00000498444,;							MODERATE	3107/3744	R1036H	CJ012_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000286067	8.24E-05	CCDS7452.1			1	
NRDE2	0	LGGM	GRCh37	14	90754602	90754602	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091269	H091269N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	54	4	.	.	ENST00000354366.3:c.3117A>G	p.Glu1039=	p.E1039=	ENST00000354366	NM_017970.3	1039	gaA/gaG	0	1	1	UPI00001FD9DB	0		ENST00000354366		ENSG00000119720	20186		58			HGNC	p.E1039E		NRDE2		SNV							ENST00000354366	protein_coding			hmmpanther:PTHR13471		E		C		3350/5828				Q658X2_HUMAN,E9PBK4_HUMAN			YES	NRDE2,synonymous_variant,p.=,ENST00000354366,NM_017970.3;NRDE2,synonymous_variant,p.=,ENST00000357904,;NRDE2,downstream_gene_variant,,ENST00000554464,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,non_coding_transcript_exon_variant,,ENST00000555903,;							LOW	3117/3495		NRDE2_HUMAN			Transcript			.	ENSP00000346335		CCDS9890.1			1	
SEMA3C	0	LGGM	GRCh37	7	80374450	80374450	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	36	4	.	.	ENST00000265361.3:c.2016C>A	p.Asp672Glu	p.D672E	ENST00000265361	NM_006379.3	672	gaC/gaA	0	1	1	UPI000011C137	0	NA	ENST00000265361		ENSG00000075223	10725		40	0.205		HGNC	p.D690E		SEMA3C		SNV			1				ENST00000544525	protein_coding	getma.org/?cm=var&var=hg19,7,80374450,G,T&fts=all		hmmpanther:PTHR11036:SF25,hmmpanther:PTHR11036		D/E		T	neutral	2578/5174		getma.org/?cm=msa&ty=f&p=SEM3C_HUMAN&rb=662&re=751&var=D672E	tolerated(1)	Q75MX0_HUMAN,Q75L25_HUMAN			YES	SEMA3C,missense_variant,p.Asp672Glu,ENST00000265361,NM_006379.3;SEMA3C,missense_variant,p.Asp690Glu,ENST00000544525,;SEMA3C,missense_variant,p.Asp672Glu,ENST00000419255,;							MODERATE	2016/2256	D672E	SEM3C_HUMAN			Transcript		benign(0.002)	.	ENSP00000265361		CCDS5596.1			1	
RUNX1T1	0	LGGM	GRCh37	8	93029550	93029550	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	32	4	.	.	ENST00000436581.2:c.163G>T	p.Asp55Tyr	p.D55Y	ENST00000436581		55	Gat/Tat	0	1		UPI000012F7B4	0	NA	ENST00000265814		ENSG00000079102	1535		36	1.24		HGNC	p.D44Y		RUNX1T1		SNV			1				ENST00000518954	protein_coding	getma.org/?cm=var&var=hg19,8,93029550,C,A&fts=all		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5		D/Y		A	low	214/3217		getma.org/?cm=msa&ty=f&p=MTG8_HUMAN&rb=1&re=119&var=D44Y	deleterious(0)	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				RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000523629,NM_175634.2,NM_001198633.1,NM_001198630.1,NM_001198626.1;RUNX1T1,missense_variant,p.Asp17Tyr,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000265814,NM_001198628.1,NM_001198631.1,NM_001198629.1;RUNX1T1,missense_variant,p.Asp17Tyr,ENST00000518844,NM_001198627.1,NM_001198625.1;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000360348,NM_175635.2,NM_001198632.1;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000520724,NM_001198679.1,NM_001198634.1;RUNX1T1,missense_variant,p.Asp55Tyr,ENST00000436581,;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000521553,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000519847,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000518992,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000517919,;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000521319,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000522467,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000521375,;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000518832,;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000521054,;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000520556,;RUNX1T1,missense_variant,p.Asp17Tyr,ENST00000518317,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000520583,;RUNX1T1,missense_variant,p.Asp17Tyr,ENST00000521733,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000520974,;RUNX1T1,missense_variant,p.Asp17Tyr,ENST00000518823,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000523168,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000518954,;RUNX1T1,missense_variant,p.Asp7Tyr,ENST00000517792,;RUNX1T1,missense_variant,p.Asp17Tyr,ENST00000519061,;RUNX1T1,missense_variant,p.Asp44Tyr,ENST00000520428,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000520172,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000518256,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000522065,;RUNX1T1,intron_variant,,ENST00000522316,;RUNX1T1,downstream_gene_variant,,ENST00000522163,;RUNX1T1,downstream_gene_variant,,ENST00000522860,;RUNX1T1,3_prime_UTR_variant,,ENST00000517493,;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,,ENST00000521902,;							MODERATE	130/1815	D44Y	MTG8_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000265814		CCDS6256.1			1	
VCX	0	LGGM	GRCh37	X	7811818	7811818	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H091269	H091269N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	9	4	.	.	ENST00000381059.3:c.382del	p.Ser128AlafsTer7	p.S128Afs*7	ENST00000381059	NM_013452.2	128	Agc/gc	0	1	1	UPI0000138291	0		ENST00000381059		ENSG00000182583	12667		13			HGNC	p.S128fs	TMP_ESP_X_7811818_7811818	VCX		deletion	-:0.1915						ENST00000381059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231,Pfam_domain:PF15231		S/X	-:0.1053	-		601/967							YES	VCX,frameshift_variant,p.Ser128AlafsTer7,ENST00000381059,NM_013452.2;VCX,intron_variant,,ENST00000341408,;							HIGH	382/621		VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
GRIK1	0	LGGM	GRCh37	21	30927599	30927599	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	76	4	.	.	ENST00000399907.1:c.2381C>G	p.Thr794Ser	p.T794S	ENST00000399907	NM_000830.3	794	aCt/aGt	0	1	1	UPI000012B612	0	getma.org/pdb.php?prot=GRIK1_HUMAN&from=575&to=846&var=T794S	ENST00000399907		ENSG00000171189	4579		80	-1.74		HGNC	p.T779S		GRIK1		SNV							ENST00000399914	protein_coding	getma.org/?cm=var&var=hg19,21,30927599,G,C&fts=all		Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36		T/S		C	neutral	2793/3472		getma.org/?cm=msa&ty=f&p=GRIK1_HUMAN&rb=575&re=846&var=T794S	tolerated(1)	Q9UNN1_HUMAN,Q71UA3_HUMAN			YES	GRIK1,missense_variant,p.Thr779Ser,ENST00000399914,;GRIK1,missense_variant,p.Thr794Ser,ENST00000399907,NM_000830.3;GRIK1,missense_variant,p.Thr779Ser,ENST00000399909,;GRIK1,missense_variant,p.Thr794Ser,ENST00000399913,;GRIK1,missense_variant,p.Thr794Ser,ENST00000327783,;GRIK1,missense_variant,p.Thr779Ser,ENST00000389125,NM_175611.2;GRIK1,missense_variant,p.Thr796Ser,ENST00000535441,;GRIK1,missense_variant,p.Thr796Ser,ENST00000309434,;GRIK1,missense_variant,p.Thr794Ser,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;							MODERATE	2381/2757	T794S	GRIK1_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000382791		CCDS42913.1			1	
TNFSF11	0	LGGM	GRCh37	13	43180884	43180884	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091269	H091269N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	94	4	.	.	ENST00000239849.6:c.784A>T	p.Lys262Ter	p.K262*	ENST00000239849		262	Aag/Tag	0	1		UPI000000103A	0	NA	ENST00000398795		ENSG00000120659	11926		98	0		HGNC	p.K189X		TNFSF11		SNV			1				ENST00000405262	protein_coding	getma.org/?cm=var&var=hg19,13,43180884,A,T&fts=all		Superfamily_domains:SSF49842,SMART_domains:SM00207,Gene3D:2.60.120.40,Pfam_domain:PF00229,hmmpanther:PTHR11471:SF3,hmmpanther:PTHR11471,PROSITE_profiles:PS50049		K/*		T	NA	933/2198		NA		Q54A98_HUMAN				TNFSF11,stop_gained,p.Lys189Ter,ENST00000398795,NM_003701.3;TNFSF11,stop_gained,p.Lys262Ter,ENST00000239849,;TNFSF11,stop_gained,p.Lys189Ter,ENST00000405262,;TNFSF11,stop_gained,p.Lys189Ter,ENST00000358545,NM_033012.3;TNFSF11,stop_gained,p.Lys189Ter,ENST00000544862,;							HIGH	565/735	K262*	TNF11_HUMAN			Transcript			.	ENSP00000381775		CCDS9385.1			1	
SYNE1	0	LGGM	GRCh37	6	152719769	152719769	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091269	H091269N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	91	5	.	.	ENST00000367255.5:c.7335G>T	p.Lys2445Asn	p.K2445N	ENST00000367255	NM_182961.3	2445	aaG/aaT	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		96	1.955		HGNC	p.K2452N		SYNE1		SNV			1				ENST00000448038	protein_coding	getma.org/?cm=var&var=hg19,6,152719769,C,A&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150		K/N		A	medium	7937/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=2284&re=2483&var=K2445N					YES	SYNE1,missense_variant,p.Lys2445Asn,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Lys2445Asn,ENST00000265368,;SYNE1,missense_variant,p.Lys2452Asn,ENST00000448038,;SYNE1,missense_variant,p.Lys2452Asn,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Lys2483Asn,ENST00000341594,;RP3-398G3.5,upstream_gene_variant,,ENST00000458194,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,downstream_gene_variant,,ENST00000535081,;							MODERATE	7335/26394	K2445N	SYNE1_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000356224		CCDS5236.2			1	
CACNA1D	0	LGGM	GRCh37	3	53810628	53810628	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H091269	H091269N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	38	6	.	.	ENST00000288139.4:c.4423-2A>G		p.X1475_splice	ENST00000288139	NM_000720.3			0	1		UPI000013DEF4	0		ENST00000350061		ENSG00000157388	1391		44			HGNC	-		CACNA1D		SNV			1				ENST00000350061	protein_coding							G		-/7636								CACNA1D,splice_acceptor_variant,,ENST00000288139,NM_000720.3;CACNA1D,splice_acceptor_variant,,ENST00000350061,NM_001128840.2;CACNA1D,splice_acceptor_variant,,ENST00000422281,NM_001128839.2;CACNA1D,splice_acceptor_variant,,ENST00000481478,;CACNA1D,splice_acceptor_variant,,ENST00000540742,;							HIGH	4363/6486		CAC1D_HUMAN			Transcript			.	ENSP00000288133		CCDS46848.1			1	
MUC16	0	LGGM	GRCh37	19	9026203	9026203	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	112	6	.	.	ENST00000397910.4:c.36783C>T	p.Val12261=	p.V12261=	ENST00000397910	NM_024690.2	12261	gtC/gtT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		118			HGNC	p.V12261V	COSM3541917	MUC16		SNV						1	ENST00000397910	protein_coding			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		V		A		36987/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;					1		LOW	36783/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
WNT11	0	LGGM	GRCh37	11	75907610	75907610	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091269	H091269N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	30	7	.	.	ENST00000322563.3:c.236C>A	p.Ala79Asp	p.A79D	ENST00000322563	NM_004626.2	79	gCc/gAc	0	1	1	UPI000003148D	0	getma.org/pdb.php?prot=WNT11_HUMAN&from=44&to=354&var=A79D	ENST00000322563		ENSG00000085741	12776		37	1.79		HGNC	p.A79D	COSM1127640	WNT11		SNV						1	ENST00000531317	protein_coding	getma.org/?cm=var&var=hg19,11,75907610,G,T&fts=all		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF7,SMART_domains:SM00097		A/D		T	low	361/1930		getma.org/?cm=msa&ty=f&p=WNT11_HUMAN&rb=44&re=354&var=A79D	deleterious(0.02)				YES	WNT11,missense_variant,p.Ala79Asp,ENST00000322563,NM_004626.2;RP11-619A14.2,downstream_gene_variant,,ENST00000527314,;					1		MODERATE	236/1065	A79D	WNT11_HUMAN			Transcript		benign(0.139)	.	ENSP00000325526		CCDS8242.1			1	
DNAH11	0	LGGM	GRCh37	7	21658725	21658725	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091269	H091269N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	80	10	.	.	ENST00000328843.6:c.4277T>C	p.Phe1426Ser	p.F1426S	ENST00000328843		1426	tTt/tCt	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		90			HGNC	p.F1426S		DNAH11		SNV			1				ENST00000328843	protein_coding			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		F/S		C		4293/14167			deleterious(0)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN				DNAH11,missense_variant,p.Phe1426Ser,ENST00000328843,;DNAH11,missense_variant,p.Phe1421Ser,ENST00000409508,NM_001277115.1;DNAH11,non_coding_transcript_exon_variant,,ENST00000465593,;							MODERATE	4262/13551					Transcript		probably_damaging(0.936)	.	ENSP00000475939		CCDS64602.1			1	
ABHD12B	0	LGGM	GRCh37	14	51368610	51368610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091269	H091269N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	15	14	.	.	ENST00000337334.2:c.844A>G	p.Ile282Val	p.I282V	ENST00000337334	NM_001206673.1	282	Atc/Gtc	0	1	1	UPI00001ADDF5	0	getma.org/pdb.php?prot=AB12B_HUMAN&from=141&to=341&var=I282V	ENST00000337334		ENSG00000131969	19837	0.531	29	0.175		HGNC	p.I175V	rs28564871,COSM33040,COSM3753998	ABHD12B	0.23	SNV	G:0.1527			0.16		0,1,1	ENST00000395752	protein_coding	getma.org/?cm=var&var=hg19,14,51368610,A,G&fts=all	G:0.1649	hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF32,Pfam_domain:PF12695,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		I/V	G:0.1905	G	neutral	859/1708	0.191	getma.org/?cm=msa&ty=f&p=AB12B_HUMAN&rb=141&re=341&var=I282V	tolerated(1)		G:0.3876	G:0.4573	YES	ABHD12B,missense_variant,p.Ile282Val,ENST00000337334,NM_001206673.1;ABHD12B,missense_variant,p.Ile175Val,ENST00000395752,;ABHD12B,missense_variant,p.Ile205Val,ENST00000353130,NM_181814.1;PYGL,intron_variant,,ENST00000532462,;PYGL,downstream_gene_variant,,ENST00000216392,NM_002863.4;PYGL,downstream_gene_variant,,ENST00000544180,NM_001163940.1;ABHD12B,non_coding_transcript_exon_variant,,ENST00000554566,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000556857,;ABHD12B,non_coding_transcript_exon_variant,,ENST00000553715,;ABHD12B,3_prime_UTR_variant,,ENST00000382029,;ABHD12B,3_prime_UTR_variant,,ENST00000557345,;	0.443	G:0.2837			0,1,1		MODERATE	844/1089	I282V	AB12B_HUMAN	0.216	G:0.2028	Transcript		benign(0)	common_variant	ENSP00000336693	0.244	CCDS55916.1	0.247	G:0.2751	1	
GSG1	0	LGGM	GRCh37	12	13243647	13243648	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H091269	H091269N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091269N.bam, H091269T.bam	Illumina HiSeq	43	19	.	.	ENST00000432710.2:c.153_154insC	p.Phe52LeufsTer22	p.F52Lfs*22	ENST00000432710	NM_001206842.1	51	-/C	0	1	1	UPI00001413B2	0		ENST00000432710		ENSG00000111305	19716		62			HGNC	p.F52fs	rs369157349	GSG1		insertion	AG:0.0077						ENST00000351606	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF33,Pfam_domain:PF07803		-/X	AG:0.015	G		286-287/1231							YES	GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000337630,NM_153823.3;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000324458,NM_001080555.2;GSG1,frameshift_variant,p.Phe36LeufsTer22,ENST00000396310,NM_001206843.1;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000396302,NM_031289.3;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000351606,NM_001080554.2;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000432710,NM_001206842.1;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000457134,NM_001206845.1;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000537302,;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000545401,;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000542415,;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000545699,;KIAA1467,intron_variant,,ENST00000537625,;							HIGH	153-154/1020		GSG1_HUMAN			Transcript			.	ENSP00000405032		CCDS55808.1			1	
NFYC	0	LGGM	GRCh37	1	41223956	41223956	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091309	H091309N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	12	2	.	.	ENST00000425457.2:c.551A>G	p.Gln184Arg	p.Q184R	ENST00000425457	NM_001142588.1	184	cAg/cGg	0	1		UPI000012717E	0	NA	ENST00000308733		ENSG00000066136	7806		14	1.905		HGNC	p.Q184R		NFYC		SNV							ENST00000372651	protein_coding	getma.org/?cm=var&var=hg19,1,41223956,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8		Q/R		G	medium	557/2158		getma.org/?cm=msa&ty=f&p=NFYC_HUMAN&rb=106&re=305&var=Q184R	deleterious_low_confidence(0)	Q8TCN9_HUMAN,Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN				NFYC,missense_variant,p.Gln184Arg,ENST00000372652,;NFYC,missense_variant,p.Gln184Arg,ENST00000308733,;NFYC,missense_variant,p.Gln184Arg,ENST00000447388,NM_014223.4,NM_001142587.1;NFYC,missense_variant,p.Gln184Arg,ENST00000456393,;NFYC,missense_variant,p.Gln184Arg,ENST00000372653,NM_001142590.1;NFYC,missense_variant,p.Gln184Arg,ENST00000440226,;NFYC,missense_variant,p.Gln184Arg,ENST00000425457,NM_001142588.1;NFYC,missense_variant,p.Gln184Arg,ENST00000372654,;NFYC,missense_variant,p.Gln146Arg,ENST00000427410,NM_001142589.1;NFYC,missense_variant,p.Gln184Arg,ENST00000372651,;NFYC,missense_variant,p.Gln184Arg,ENST00000372669,;NFYC,missense_variant,p.Gln67Arg,ENST00000414185,;NFYC,missense_variant,p.Gln152Arg,ENST00000416859,;NFYC,downstream_gene_variant,,ENST00000525290,;MIR30E,downstream_gene_variant,,ENST00000362104,;MIR30C1,downstream_gene_variant,,ENST00000385227,;NFYC,non_coding_transcript_exon_variant,,ENST00000424419,;NFYC,non_coding_transcript_exon_variant,,ENST00000467203,;NFYC,non_coding_transcript_exon_variant,,ENST00000525349,;							MODERATE	551/1377	Q184R	NFYC_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000312617					1	
RASA2	0	LGGM	GRCh37	3	141326536	141326536	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	6	2	.	.	ENST00000286364.3:c.1950C>A	p.Tyr650Ter	p.Y650*	ENST00000286364		650	taC/taA	0	1	1	UPI00001351F5	0	NA	ENST00000286364		ENSG00000155903	9872		8	0		HGNC	p.Y650X		RASA2		SNV			1				ENST00000286364	protein_coding	getma.org/?cm=var&var=hg19,3,141326536,C,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF21,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		Y/*		A	NA	1985/5614		NA					YES	RASA2,stop_gained,p.Tyr650Ter,ENST00000286364,;RASA2,stop_gained,p.Tyr651Ter,ENST00000452898,NM_006506.2;RASA2,non_coding_transcript_exon_variant,,ENST00000509118,;RASA2,non_coding_transcript_exon_variant,,ENST00000509032,;RASA2,non_coding_transcript_exon_variant,,ENST00000506365,;							HIGH	1950/2550	Y650*	RASA2_HUMAN			Transcript			.	ENSP00000286364		CCDS3117.1			1	
TLCD2	0	LGGM	GRCh37	17	1611276	1611276	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	7	2	.	.	ENST00000330676.6:c.583G>T	p.Val195Phe	p.V195F	ENST00000330676	NM_001164407.1	195	Gtt/Ttt	0	1	1	UPI00001D79C7	0	NA	ENST00000330676		ENSG00000185561	33522		9	0.695		HGNC	p.V195F		TLCD2		SNV							ENST00000330676	protein_coding	getma.org/?cm=var&var=hg19,17,1611276,C,A&fts=all		SMART_domains:SM00724,Pfam_domain:PF03798,PROSITE_profiles:PS50922,hmmpanther:PTHR13439,hmmpanther:PTHR13439:SF2		V/F		A	neutral	779/991		getma.org/?cm=msa&ty=f&p=TLCD2_HUMAN&rb=38&re=224&var=V195F	tolerated(0.05)				YES	TLCD2,missense_variant,p.Val195Phe,ENST00000330676,NM_001164407.1;MIR22HG,downstream_gene_variant,,ENST00000574306,;MIR22HG,downstream_gene_variant,,ENST00000334146,;MIR22HG,downstream_gene_variant,,ENST00000573127,;MIR22HG,downstream_gene_variant,,ENST00000571595,;MIR22HG,downstream_gene_variant,,ENST00000576749,;MIR22HG,downstream_gene_variant,,ENST00000576489,;MIR22HG,downstream_gene_variant,,ENST00000575626,;MIR22HG,downstream_gene_variant,,ENST00000609990,;MIR22HG,downstream_gene_variant,,ENST00000609398,;MIR22HG,downstream_gene_variant,,ENST00000608198,;MIR22HG,downstream_gene_variant,,ENST00000608913,;MIR22HG,downstream_gene_variant,,ENST00000574016,;MIR22HG,downstream_gene_variant,,ENST00000573075,;MIR22HG,downstream_gene_variant,,ENST00000609442,;MIR22HG,downstream_gene_variant,,ENST00000570416,;MIR22HG,downstream_gene_variant,,ENST00000571091,;MIR22HG,downstream_gene_variant,,ENST00000608245,;MIR22HG,downstream_gene_variant,,ENST00000610106,;							MODERATE	583/795	V195F	TLCD2_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000331965		CCDS45567.1			1	
RP11-1055B8.7	0	LGGM	GRCh37	17	79405472	79405472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	7	2	.	.	ENST00000307745.7:c.435C>A	p.Asn145Lys	p.N145K	ENST00000307745		145	aaC/aaA	0	1	1	UPI0001AE66BF	0	NA	ENST00000307745		ENSG00000171282			9	1.61		Clone_based_vega_gene	p.N145K		RP11-1055B8.7		SNV							ENST00000307745	protein_coding	getma.org/?cm=var&var=hg19,17,79405472,C,A&fts=all		hmmpanther:PTHR12505,hmmpanther:PTHR12505:SF22		N/K		A	low	435/10341		getma.org/?cm=msa&ty=f&p=BAHC1_HUMAN&rb=1&re=200&var=N145K		J3QLH5_HUMAN,F8WBW8_HUMAN			YES	RP11-1055B8.7,missense_variant,p.Asn145Lys,ENST00000307745,;RP11-1055B8.7,missense_variant,p.Asn26Lys,ENST00000571813,NM_001080519.2;							MODERATE	435/7827	N145K				Transcript		probably_damaging(0.994)	.	ENSP00000303486					1	
NCOR2	0	LGGM	GRCh37	12	124857079	124857079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	8	2	.	.	ENST00000405201.1:c.2296G>T	p.Gly766Trp	p.G766W	ENST00000405201		766	Ggg/Tgg	0	1	1	UPI000013D737	0	NA	ENST00000405201		ENSG00000196498	7673		10	0.695		HGNC	p.G766W		NCOR2		SNV							ENST00000458234	protein_coding	getma.org/?cm=var&var=hg19,12,124857079,C,A&fts=all		hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21		G/W		A	neutral	2297/8533		getma.org/?cm=msa&ty=f&p=NCOR2_HUMAN&rb=658&re=857&var=G766W		C9JFD3_HUMAN,C9J330_HUMAN			YES	NCOR2,missense_variant,p.Gly766Trp,ENST00000356219,NM_006312.5;NCOR2,missense_variant,p.Gly319Trp,ENST00000404121,NM_001206654.1;NCOR2,missense_variant,p.Gly766Trp,ENST00000405201,;NCOR2,missense_variant,p.Gly749Trp,ENST00000397355,;NCOR2,missense_variant,p.Gly748Trp,ENST00000404621,NM_001077261.3;NCOR2,missense_variant,p.Gly748Trp,ENST00000429285,;NCOR2,missense_variant,p.Gly766Trp,ENST00000458234,;NCOR2,missense_variant,p.Gly139Trp,ENST00000448614,;							MODERATE	2296/7545	G766W				Transcript		unknown(0)	.	ENSP00000384018		CCDS41858.2			1	
ARSI	0	LGGM	GRCh37	5	149677442	149677442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	16	3	.	.	ENST00000328668.7:c.1045G>T	p.Asp349Tyr	p.D349Y	ENST00000328668	NM_001012301.2	349	Gac/Tac	0	1	1	UPI000003FD83	0	getma.org/pdb.php?prot=ARSI_HUMAN&from=47&to=476&var=D349Y	ENST00000328668		ENSG00000183876	32521		19	4.735		HGNC	p.D349Y		ARSI		SNV			1				ENST00000328668	protein_coding	getma.org/?cm=var&var=hg19,5,149677442,C,A&fts=all		hmmpanther:PTHR10342:SF68,hmmpanther:PTHR10342,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649		D/Y		A	high	1625/3161		getma.org/?cm=msa&ty=f&p=ARSI_HUMAN&rb=47&re=476&var=D349Y	deleterious(0)	D6RDH0_HUMAN			YES	ARSI,missense_variant,p.Asp349Tyr,ENST00000328668,NM_001012301.2;ARSI,missense_variant,p.Asp206Tyr,ENST00000515301,;ARSI,downstream_gene_variant,,ENST00000509146,;							MODERATE	1045/1710	D349Y	ARSI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333395		CCDS34275.1			1	
RYR1	0	LGGM	GRCh37	19	39051992	39051992	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	34	3	.	.	ENST00000359596.3:c.12522C>A	p.Arg4174=	p.R4174=	ENST00000359596		4174	cgC/cgA	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		37			HGNC	p.R4174R		RYR1		SNV			1				ENST00000359596	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		R		A		12522/15117				O75591_HUMAN,B4DET7_HUMAN			YES	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,;							LOW	12522/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
DIS3L	0	LGGM	GRCh37	15	66618628	66618628	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	30	3	.	.	ENST00000319212.4:c.2127C>A	p.His709Gln	p.H709Q	ENST00000319212	NM_001143688.1	709	caC/caA	0	1	1	UPI000162779D	0	getma.org/pdb.php?prot=DI3L1_HUMAN&from=465&to=817&var=H709Q	ENST00000319212		ENSG00000166938	28698		33	2.75		HGNC	p.H626Q		DIS3L		SNV							ENST00000319194	protein_coding	getma.org/?cm=var&var=hg19,15,66618628,C,A&fts=all		Pfam_domain:PF00773,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30,SMART_domains:SM00955,Superfamily_domains:SSF50249		H/Q		A	medium	2177/3647		getma.org/?cm=msa&ty=f&p=DI3L1_HUMAN&rb=465&re=817&var=H709Q	deleterious(0)	E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN			YES	DIS3L,missense_variant,p.His626Gln,ENST00000319194,NM_133375.3;DIS3L,missense_variant,p.His709Gln,ENST00000319212,NM_001143688.1;DIS3L,downstream_gene_variant,,ENST00000441424,;RP11-352G18.2,intron_variant,,ENST00000565993,;DIS3L,upstream_gene_variant,,ENST00000568874,;DIS3L,3_prime_UTR_variant,,ENST00000530537,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564909,;DIS3L,non_coding_transcript_exon_variant,,ENST00000565281,;DIS3L,downstream_gene_variant,,ENST00000524795,;DIS3L,upstream_gene_variant,,ENST00000564945,;							MODERATE	2127/3165	H709Q	DI3L1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000321711		CCDS45286.1			1	
SMCR8	0	LGGM	GRCh37	17	18219801	18219801	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	43	3	.	.	ENST00000406438.3:c.698C>A	p.Ala233Asp	p.A233D	ENST00000406438	NM_144775.2	233	gCc/gAc	0	1	1	UPI0000E0322D	0	NA	ENST00000406438		ENSG00000176994	17921		46	1.7		HGNC	p.A233D		SMCR8		SNV							ENST00000406438	protein_coding	getma.org/?cm=var&var=hg19,17,18219801,C,A&fts=all		hmmpanther:PTHR31334:SF1,hmmpanther:PTHR31334		A/D		A	low	1178/3427		getma.org/?cm=msa&ty=f&p=SMCR8_HUMAN&rb=87&re=252&var=A233D	deleterious(0.01)				YES	SMCR8,missense_variant,p.Ala233Asp,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,;							MODERATE	698/2814	A233D	SMCR8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000385025		CCDS11195.2			1	
PGM2	0	LGGM	GRCh37	4	37841779	37841779	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	61	4	.	.	ENST00000381967.4:c.617C>A	p.Ala206Asp	p.A206D	ENST00000381967	NM_018290.3	206	gCt/gAt	0	1	1	UPI000004A02B	0	NA	ENST00000381967		ENSG00000169299	8906		65	2.21		HGNC	p.A46D		PGM2		SNV							ENST00000537241	protein_coding	getma.org/?cm=var&var=hg19,4,37841779,C,A&fts=all		hmmpanther:PTHR22573:SF43,hmmpanther:PTHR22573,Gene3D:3.40.120.10,Superfamily_domains:SSF53738		A/D		A	medium	717/3264		getma.org/?cm=msa&ty=f&p=PGM2_HUMAN&rb=174&re=256&var=A206D	deleterious(0)	Q4W5D6_HUMAN,F5H6V2_HUMAN			YES	PGM2,missense_variant,p.Ala206Asp,ENST00000381967,NM_018290.3;PGM2,missense_variant,p.Ala46Asp,ENST00000537241,;PGM2,missense_variant,p.Ala67Asp,ENST00000544359,;PGM2,3_prime_UTR_variant,,ENST00000512556,;PGM2,3_prime_UTR_variant,,ENST00000505986,;PGM2,3_prime_UTR_variant,,ENST00000515668,;							MODERATE	617/1839	A206D	PGM2_HUMAN			Transcript		benign(0.187)	.	ENSP00000371393		CCDS3443.1			1	
CDH9	0	LGGM	GRCh37	5	26890658	26890658	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091309	H091309N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	85	4	.	.	ENST00000231021.4:c.1269G>A	p.Arg423=	p.R423=	ENST00000231021	NM_016279.3	423	cgG/cgA	0	1	1	UPI000013C945	0		ENST00000231021		ENSG00000113100	1768		89			HGNC	p.R423R		CDH9		SNV							ENST00000231021	protein_coding			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268		R		T		1442/3079				E7EPN0_HUMAN,D6RBT9_HUMAN			YES	CDH9,synonymous_variant,p.=,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505020,;							LOW	1269/2370		CADH9_HUMAN			Transcript			.	ENSP00000231021		CCDS3893.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H091309	H091309N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091309N.bam, H091309T.bam	Illumina HiSeq	30	17	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		47			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
LECT1	0	LGGM	GRCh37	13	53313300	53313300	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	1	2	.	.	ENST00000377962.3:c.79G>T	p.Ala27Ser	p.A27S	ENST00000377962		27	Gct/Tct	0	1	1	UPI000003F666	0	NA	ENST00000377962		ENSG00000136110	17005		3	-0.695		HGNC	p.A27S		LECT1		SNV							ENST00000377962	protein_coding	getma.org/?cm=var&var=hg19,13,53313300,C,A&fts=all		hmmpanther:PTHR14064,hmmpanther:PTHR14064:SF6		A/S		A	neutral	158/1410		getma.org/?cm=msa&ty=f&p=LECT1_HUMAN&rb=1&re=103&var=A27S	tolerated(1)	E9PKI9_HUMAN			YES	LECT1,missense_variant,p.Ala27Ser,ENST00000448904,NM_001011705.1,NM_007015.2;LECT1,missense_variant,p.Ala27Ser,ENST00000377962,;LECT1,5_prime_UTR_variant,,ENST00000431550,;							MODERATE	79/1005	A27S	LECT1_HUMAN			Transcript		benign(0.04)	.	ENSP00000367198		CCDS9437.1			1	
DNAJB13	0	LGGM	GRCh37	11	73677192	73677192	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	1	2	.	.	ENST00000339764.1:c.502G>T	p.Glu168Ter	p.E168*	ENST00000339764	NM_153614.2	168	Gag/Tag	0	1	1	UPI00001BFAF7	0	NA	ENST00000339764		ENSG00000187726	30718		3	0		HGNC	p.E168X		DNAJB13		SNV							ENST00000339764	protein_coding	getma.org/?cm=var&var=hg19,11,73677192,G,T&fts=all		Gene3D:2.60.260.20,hmmpanther:PTHR24077,hmmpanther:PTHR24077:SF201,Superfamily_domains:SSF49493		E/*		T	NA	1253/1875		NA					YES	DNAJB13,stop_gained,p.Glu168Ter,ENST00000339764,NM_153614.2;DNAJB13,stop_gained,p.Glu69Ter,ENST00000542350,;DNAJB13,5_prime_UTR_variant,,ENST00000543947,;DNAJB13,5_prime_UTR_variant,,ENST00000537753,;RP11-167N4.2,non_coding_transcript_exon_variant,,ENST00000537019,;RP11-167N4.2,upstream_gene_variant,,ENST00000540886,;							HIGH	502/951	E168*	DJB13_HUMAN			Transcript			.	ENSP00000344431		CCDS8227.1			1	
MED16	0	LGGM	GRCh37	19	877036	877036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	4	2	.	.	ENST00000325464.1:c.1498G>T	p.Val500Leu	p.V500L	ENST00000325464	NM_005481.2	500	Gta/Tta	0	1	1	UPI0000141671	0	NA	ENST00000325464		ENSG00000175221	17556		6	0.745		HGNC	p.V500L		MED16		SNV							ENST00000269814	protein_coding	getma.org/?cm=var&var=hg19,19,877036,C,A&fts=all		hmmpanther:PTHR13224:SF6,hmmpanther:PTHR13224,Pfam_domain:PF11635		V/L		A	neutral	1649/2922		getma.org/?cm=msa&ty=f&p=MED16_HUMAN&rb=119&re=829&var=V500L	tolerated(0.06)	K7EKX6_HUMAN,B9TX09_HUMAN			YES	MED16,missense_variant,p.Val500Leu,ENST00000312090,;MED16,missense_variant,p.Val500Leu,ENST00000395808,;MED16,missense_variant,p.Val500Leu,ENST00000325464,NM_005481.2;MED16,missense_variant,p.Val500Leu,ENST00000269814,;MED16,missense_variant,p.Val500Leu,ENST00000589119,;MED16,missense_variant,p.Val254Leu,ENST00000607471,;MED16,missense_variant,p.Val356Leu,ENST00000586017,;MED16,intron_variant,,ENST00000592943,;MED16,intron_variant,,ENST00000606828,;MED16,missense_variant,p.Val500Leu,ENST00000606248,;							MODERATE	1498/2634	V500L	MED16_HUMAN			Transcript		benign(0.252)	.	ENSP00000325612		CCDS12047.1			1	
ULK1	0	LGGM	GRCh37	12	132405653	132405653	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	3	2	.	.	ENST00000321867.4:c.2970G>T	p.Ser990=	p.S990=	ENST00000321867	NM_003565.2	990	tcG/tcT	0	1	1	UPI00001FB0D9	0		ENST00000321867		ENSG00000177169	12558		5			HGNC	p.S990S	rs751454599	ULK1	7.33E-05	SNV							ENST00000321867	protein_coding			hmmpanther:PTHR24348:SF19,hmmpanther:PTHR24348,Pfam_domain:PF12063,PIRSF_domain:PIRSF000580		S		T		3321/5310				F5H4E9_HUMAN,F5H1S7_HUMAN,F5GZQ0_HUMAN			YES	ULK1,synonymous_variant,p.=,ENST00000321867,NM_003565.2;ULK1,synonymous_variant,p.=,ENST00000540647,;ULK1,downstream_gene_variant,,ENST00000541761,;RP11-417L19.4,downstream_gene_variant,,ENST00000539078,;ULK1,non_coding_transcript_exon_variant,,ENST00000540568,;ULK1,non_coding_transcript_exon_variant,,ENST00000544718,;							LOW	2970/3153		ULK1_HUMAN			Transcript			.	ENSP00000324560	8.26E-06	CCDS9274.1			1	
IPO4	0	LGGM	GRCh37	14	24651483	24651483	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	8	3	.	.	ENST00000354464.6:c.2598+1G>T		p.X866_splice	ENST00000354464	NM_024658.3			0	1	1	UPI000013CCB3	0		ENST00000354464		ENSG00000196497	19426		11			HGNC	-		IPO4		SNV							ENST00000354464	protein_coding							A		-/3646				Q6I9Y8_HUMAN,D3DS63_HUMAN			YES	IPO4,splice_donor_variant,,ENST00000354464,NM_024658.3;IPO4,splice_donor_variant,,ENST00000561462,;IPO4,splice_donor_variant,,ENST00000558233,;REC8,downstream_gene_variant,,ENST00000311457,;REC8,downstream_gene_variant,,ENST00000559919,NM_005132.2,NM_001048205.1;REC8,downstream_gene_variant,,ENST00000559939,;RP11-468E2.2,splice_donor_variant,,ENST00000561419,;IPO4,splice_donor_variant,,ENST00000561090,;IPO4,splice_donor_variant,,ENST00000560798,;IPO4,splice_donor_variant,,ENST00000558780,;IPO4,splice_donor_variant,,ENST00000559588,;IPO4,splice_donor_variant,,ENST00000560155,;IPO4,splice_donor_variant,,ENST00000558046,;IPO4,splice_donor_variant,,ENST00000561199,;REC8,downstream_gene_variant,,ENST00000557979,;REC8,downstream_gene_variant,,ENST00000558782,;REC8,downstream_gene_variant,,ENST00000558697,;REC8,downstream_gene_variant,,ENST00000559797,;IPO4,downstream_gene_variant,,ENST00000560935,;IPO4,downstream_gene_variant,,ENST00000561379,;IPO4,downstream_gene_variant,,ENST00000559253,;REC8,downstream_gene_variant,,ENST00000558191,;REC8,downstream_gene_variant,,ENST00000560823,;REC8,downstream_gene_variant,,ENST00000558381,;							HIGH	2598/3246		IPO4_HUMAN			Transcript			.	ENSP00000346453		CCDS9616.1			1	
LIMCH1	0	LGGM	GRCh37	4	41615585	41615585	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	3	.	.	ENST00000313860.7:c.589G>T	p.Gly197Cys	p.G197C	ENST00000313860	NM_014988.2	197	Ggc/Tgc	0	1	1	UPI0000D61554	0	NA	ENST00000313860		ENSG00000064042	29191		37	0.41		HGNC	p.G43C		LIMCH1		SNV							ENST00000381753	protein_coding	getma.org/?cm=var&var=hg19,4,41615585,G,T&fts=all		hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3,Low_complexity_(Seg):seg		G/C		T	neutral	643/6165		getma.org/?cm=msa&ty=f&p=LIMC1_HUMAN&rb=139&re=303&var=G197C	tolerated(0.08)	D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN			YES	LIMCH1,missense_variant,p.Gly197Cys,ENST00000313860,NM_014988.2;LIMCH1,missense_variant,p.Gly43Cys,ENST00000396595,NM_001112719.1;LIMCH1,missense_variant,p.Gly43Cys,ENST00000381753,NM_001112720.1;LIMCH1,missense_variant,p.Gly38Cys,ENST00000503057,;LIMCH1,missense_variant,p.Gly38Cys,ENST00000513024,;LIMCH1,missense_variant,p.Gly197Cys,ENST00000512820,;LIMCH1,missense_variant,p.Gly197Cys,ENST00000512946,NM_001112717.1;LIMCH1,missense_variant,p.Gly197Cys,ENST00000508501,NM_001112718.1;LIMCH1,missense_variant,p.Gly197Cys,ENST00000512632,;LIMCH1,missense_variant,p.Gly50Cys,ENST00000514096,;LIMCH1,missense_variant,p.Gly43Cys,ENST00000509277,;LIMCH1,missense_variant,p.Gly38Cys,ENST00000511496,;LIMCH1,missense_variant,p.Gly32Cys,ENST00000508466,;LIMCH1,missense_variant,p.Gly38Cys,ENST00000509638,;LIMCH1,missense_variant,p.Gly45Cys,ENST00000509454,;LIMCH1,missense_variant,p.Gly38Cys,ENST00000446625,;LIMCH1,downstream_gene_variant,,ENST00000511424,;LIMCH1,downstream_gene_variant,,ENST00000514190,;							MODERATE	589/3252	G197C	LIMC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000316891		CCDS33977.1			1	
NUP50	0	LGGM	GRCh37	22	45574281	45574281	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	3	.	.	ENST00000347635.4:c.503G>T	p.Arg168Leu	p.R168L	ENST00000347635	NM_007172.3	168	cGg/cTg	0	1	1	UPI000013079E	0	NA	ENST00000347635		ENSG00000093000	8065		37	1.555		HGNC	p.R168L		NUP50		SNV							ENST00000347635	protein_coding	getma.org/?cm=var&var=hg19,22,45574281,G,T&fts=all		hmmpanther:PTHR13118		R/L		T	low	969/5233		getma.org/?cm=msa&ty=f&p=NUP50_HUMAN&rb=70&re=269&var=R168L	deleterious(0.05)	B4E2D3_HUMAN			YES	NUP50,missense_variant,p.Arg168Leu,ENST00000347635,NM_007172.3;NUP50,missense_variant,p.Arg140Leu,ENST00000407019,;NUP50,missense_variant,p.Arg140Leu,ENST00000396096,NM_153645.2;NUP50,5_prime_UTR_variant,,ENST00000425733,;NUP50,intron_variant,,ENST00000422489,;NUP50,downstream_gene_variant,,ENST00000430547,;CTA-268H5.12,upstream_gene_variant,,ENST00000610217,;NUP50,non_coding_transcript_exon_variant,,ENST00000486184,;NUP50,non_coding_transcript_exon_variant,,ENST00000491860,;NUP50,intron_variant,,ENST00000493456,;NUP50,3_prime_UTR_variant,,ENST00000419387,;NUP50,non_coding_transcript_exon_variant,,ENST00000469163,;NUP50,downstream_gene_variant,,ENST00000434760,;							MODERATE	503/1407	R168L	NUP50_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000345895		CCDS14062.1			1	
PCDH12	0	LGGM	GRCh37	5	141335523	141335523	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	16	3	.	.	ENST00000231484.3:c.1894G>T	p.Gly632Ter	p.G632*	ENST00000231484	NM_016580.3	632	Gga/Tga	0	1	1	UPI00001313B4	0	NA	ENST00000231484		ENSG00000113555	8657		19	0		HGNC	p.G632X		PCDH12		SNV							ENST00000231484	protein_coding	getma.org/?cm=var&var=hg19,5,141335523,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF42,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/*		A	NA	3105/6562		NA		E5RJD4_HUMAN			YES	PCDH12,stop_gained,p.Gly632Ter,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,;							HIGH	1894/3555	G632*	PCD12_HUMAN			Transcript			.	ENSP00000231484		CCDS4269.1			1	
FYCO1	0	LGGM	GRCh37	3	46009884	46009884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	3	.	.	ENST00000296137.2:c.942G>T	p.Glu314Asp	p.E314D	ENST00000296137	NM_024513.3	314	gaG/gaT	0	1	1	UPI000013E307	0	NA	ENST00000296137		ENSG00000163820	14673		37	1.32		HGNC	p.E314D		FYCO1		SNV			1				ENST00000296137	protein_coding	getma.org/?cm=var&var=hg19,3,46009884,C,A&fts=all		hmmpanther:PTHR18851,hmmpanther:PTHR18851:SF12		E/D		A	low	1148/8504		getma.org/?cm=msa&ty=f&p=FYCO1_HUMAN&rb=169&re=368&var=E314D	tolerated(0.46)	C9J2W6_HUMAN			YES	FYCO1,missense_variant,p.Glu314Asp,ENST00000296137,NM_024513.3;FYCO1,missense_variant,p.Glu314Asp,ENST00000535325,;							MODERATE	942/4437	E314D	FYCO1_HUMAN			Transcript		benign(0.076)	.	ENSP00000296137		CCDS2734.1			1	
SSUH2	0	LGGM	GRCh37	3	8661696	8661696	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	24	3	.	.	ENST00000544814.1:c.986A>T	p.Gln329Leu	p.Q329L	ENST00000544814	NM_001256748.1	329	cAg/cTg	0	1		UPI000006F08D	0	NA	ENST00000317371		ENSG00000125046	24809		27	1.935		HGNC	p.Q307L		SSUH2		SNV							ENST00000341795	protein_coding	getma.org/?cm=var&var=hg19,3,8661696,T,A&fts=all		hmmpanther:PTHR15852,hmmpanther:PTHR15852:SF7		Q/L		A	medium	2146/2561		getma.org/?cm=msa&ty=f&p=CC032_HUMAN&rb=201&re=353&var=Q307L	deleterious(0)					SSUH2,missense_variant,p.Gln307Leu,ENST00000317371,;SSUH2,missense_variant,p.Gln307Leu,ENST00000341795,NM_015931.2,NM_001256749.1;SSUH2,missense_variant,p.Gln329Leu,ENST00000544814,NM_001256748.1;SSUH2,3_prime_UTR_variant,,ENST00000415132,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;							MODERATE	920/1062	Q307L	SSUH2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000324551		CCDS2568.1			1	
SYNE1	0	LGGM	GRCh37	6	152527475	152527475	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	3	.	.	ENST00000367255.5:c.22847G>T	p.Arg7616Leu	p.R7616L	ENST00000367255	NM_182961.3	7616	cGg/cTg	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		47	2.485		HGNC	p.R7616L		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152527475,C,A&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150		R/L		A	medium	23449/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=7454&re=7653&var=R7616L					YES	SYNE1,missense_variant,p.Arg7616Leu,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Arg7616Leu,ENST00000265368,;SYNE1,missense_variant,p.Arg7545Leu,ENST00000448038,;SYNE1,missense_variant,p.Arg7545Leu,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Arg7228Leu,ENST00000341594,;SYNE1,missense_variant,p.Arg2140Leu,ENST00000356820,;SYNE1,missense_variant,p.Arg538Leu,ENST00000367251,;SYNE1,missense_variant,p.Arg262Leu,ENST00000367257,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;							MODERATE	22847/26394	R7616L	SYNE1_HUMAN			Transcript		possibly_damaging(0.488)	.	ENSP00000356224		CCDS5236.2			1	
TMEM234	0	LGGM	GRCh37	1	32682775	32682775	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	15	3	.	.	ENST00000309777.6:c.328+85C>A		*110*	ENST00000309777	NM_019118.3			0	1		UPI0000073C70	0		ENST00000344461		ENSG00000160055	28837		18			HGNC	p.P138Q		TMEM234		SNV							ENST00000373593	protein_coding							T		-/721								TMEM234,missense_variant,p.Pro138Gln,ENST00000373593,;TMEM234,intron_variant,,ENST00000309777,NM_019118.3;TMEM234,intron_variant,,ENST00000545122,;TMEM234,intron_variant,,ENST00000344461,;DCDC2B,downstream_gene_variant,,ENST00000409358,NM_001099434.1;EIF3I,upstream_gene_variant,,ENST00000355082,;TMEM234,intron_variant,,ENST00000485689,;TMEM234,upstream_gene_variant,,ENST00000495091,;TMEM234,non_coding_transcript_exon_variant,,ENST00000466796,;TMEM234,intron_variant,,ENST00000461402,;TMEM234,intron_variant,,ENST00000491434,;TMEM234,intron_variant,,ENST00000489170,;TMEM234,intron_variant,,ENST00000487174,;TMEM234,intron_variant,,ENST00000483001,;TMEM234,intron_variant,,ENST00000484490,;DCDC2B,downstream_gene_variant,,ENST00000487056,;							MODIFIER	-/495		TM234_HUMAN			Transcript			.	ENSP00000344021					1	
PCOLCE	0	LGGM	GRCh37	7	100201702	100201702	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	12	3	.	.	ENST00000223061.5:c.325G>A	p.Gly109Arg	p.G109R	ENST00000223061	NM_002593.3	109	Gga/Aga	0	1	1	UPI0000131428	0	getma.org/pdb.php?prot=PCOC1_HUMAN&from=37&to=146&var=G109R	ENST00000223061		ENSG00000106333	8738		15	2.785		HGNC	p.G109R		PCOLCE		SNV							ENST00000223061	protein_coding	getma.org/?cm=var&var=hg19,7,100201702,G,A&fts=all		Superfamily_domains:SSF49854,SMART_domains:SM00042,Pfam_domain:PF00431,Gene3D:2.60.120.290,hmmpanther:PTHR10127:SF567,hmmpanther:PTHR10127,PROSITE_profiles:PS01180		G/R		A	medium	605/1702		getma.org/?cm=msa&ty=f&p=PCOC1_HUMAN&rb=37&re=146&var=G109R	deleterious(0)				YES	PCOLCE,missense_variant,p.Gly109Arg,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,,ENST00000446022,;PCOLCE-AS1,upstream_gene_variant,,ENST00000442166,;PCOLCE-AS1,upstream_gene_variant,,ENST00000544873,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000496269,;PCOLCE,upstream_gene_variant,,ENST00000486440,;PCOLCE,non_coding_transcript_exon_variant,,ENST00000487172,;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,,ENST00000468214,;PCOLCE,upstream_gene_variant,,ENST00000460002,;PCOLCE,upstream_gene_variant,,ENST00000490909,;							MODERATE	325/1350	G109R	PCOC1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000223061		CCDS5700.1			1	
CDK5RAP2	0	LGGM	GRCh37	9	123163054	123163054	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	41	3	.	.	ENST00000349780.4:c.5417C>A	p.Pro1806His	p.P1806H	ENST00000349780	NM_018249.5	1806	cCc/cAc	0	1	1	UPI0000367673	0	NA	ENST00000349780		ENSG00000136861	18672		44	2.52		HGNC	p.P1774H		CDK5RAP2		SNV			1				ENST00000360822	protein_coding	getma.org/?cm=var&var=hg19,9,123163054,G,T&fts=all		hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF13		P/H		T	medium	5597/6228		getma.org/?cm=msa&ty=f&p=CK5P2_HUMAN&rb=1734&re=1893&var=P1806H	deleterious(0)	F8WBJ0_HUMAN,C9K0C9_HUMAN			YES	CDK5RAP2,missense_variant,p.Pro1806His,ENST00000349780,NM_018249.5;CDK5RAP2,missense_variant,p.Pro1774His,ENST00000360822,NM_001272039.1;CDK5RAP2,missense_variant,p.Pro1765His,ENST00000359309,;CDK5RAP2,missense_variant,p.Pro1727His,ENST00000360190,NM_001011649.2;CDK5RAP2,missense_variant,p.Pro1200His,ENST00000416449,;CDK5RAP2,missense_variant,p.Pro816His,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,;							MODERATE	5417/5682	P1806H	CK5P2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000343818		CCDS6823.1			1	
EGFLAM	0	LGGM	GRCh37	5	38438444	38438444	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	35	3	.	.	ENST00000354891.3:c.2351C>A	p.Ala784Glu	p.A784E	ENST00000354891	NM_001205301.1	784	gCg/gAg	0	1	1	UPI000022C806	0	getma.org/pdb.php?prot=EGFLA_HUMAN&from=609&to=788&var=A784E	ENST00000354891		ENSG00000164318	26810		38	1.78		HGNC	p.A784E		EGFLAM		SNV							ENST00000354891	protein_coding	getma.org/?cm=var&var=hg19,5,38438444,C,A&fts=all		PROSITE_profiles:PS50025,PROSITE_profiles:PS50026,hmmpanther:PTHR10574:SF202,hmmpanther:PTHR10574,Gene3D:2.60.120.200		A/E		A	low	2697/3963		getma.org/?cm=msa&ty=f&p=EGFLA_HUMAN&rb=609&re=788&var=A784E	deleterious(0.01)	D6RJD2_HUMAN			YES	EGFLAM,missense_variant,p.Ala784Glu,ENST00000322350,NM_152403.3;EGFLAM,missense_variant,p.Ala784Glu,ENST00000354891,NM_001205301.1;EGFLAM,missense_variant,p.Ala550Glu,ENST00000336740,NM_182798.2;EGFLAM,missense_variant,p.Ala150Glu,ENST00000397202,;							MODERATE	2351/3054	A784E	EGFLA_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000346964		CCDS56363.1			1	
KCNT1	0	LGGM	GRCh37	9	138649198	138649198	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	14	3	.	.	ENST00000371757.2:c.730C>A	p.Leu244Met	p.L244M	ENST00000371757	NM_020822.2	244	Ctg/Atg	0	1		UPI0002B831D7	0	NA	ENST00000488444		ENSG00000107147	18865		17	2.445		HGNC	p.L225M		KCNT1		SNV			1				ENST00000490355	protein_coding	getma.org/?cm=var&var=hg19,9,138649198,C,A&fts=all		Gene3D:1.10.287.70,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF14,Superfamily_domains:SSF81324		L/M		A	medium	681/3719		getma.org/?cm=msa&ty=f&p=KCNT1_HUMAN&rb=195&re=229&var=L225M	deleterious(0)	C9JZ51_HUMAN				KCNT1,missense_variant,p.Leu244Met,ENST00000298480,;KCNT1,missense_variant,p.Leu244Met,ENST00000371757,NM_020822.2;KCNT1,missense_variant,p.Leu196Met,ENST00000487664,NM_001272003.1;KCNT1,missense_variant,p.Leu225Met,ENST00000263604,;KCNT1,missense_variant,p.Leu211Met,ENST00000491806,;KCNT1,missense_variant,p.Leu225Met,ENST00000488444,;KCNT1,missense_variant,p.Leu205Met,ENST00000486577,;KCNT1,missense_variant,p.Leu225Met,ENST00000490355,;KCNT1,missense_variant,p.Leu191Met,ENST00000473941,;KCNT1,3_prime_UTR_variant,,ENST00000460750,;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,;							MODERATE	673/3708	L225M				Transcript		probably_damaging(0.978)	.	ENSP00000419007					1	
GABRB1	0	LGGM	GRCh37	4	47034441	47034441	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	35	3	.	.	ENST00000295454.3:c.180C>A	p.Pro60=	p.P60=	ENST00000295454	NM_000812.3	60	ccC/ccA	0	1	1	UPI000012AFAC	0		ENST00000295454		ENSG00000163288	4081		38			HGNC	p.P60P	rs546592196	GABRB1	0.000195	SNV							ENST00000295454	protein_coding		A:0	Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF198,TIGRFAM_domain:TIGR00860		P		A		472/2143				D6REM0_HUMAN	A:0	A:0.001	YES	GABRB1,synonymous_variant,p.=,ENST00000295454,NM_000812.3;GABRB1,synonymous_variant,p.=,ENST00000513567,;GABRB1,intron_variant,,ENST00000538619,;GABRB1,non_coding_transcript_exon_variant,,ENST00000509366,;GABRB1,non_coding_transcript_exon_variant,,ENST00000381582,;GABRB1,intron_variant,,ENST00000510909,;	0.000588	A:0.0006					LOW	180/1425		GBRB1_HUMAN		A:0	Transcript			common_variant	ENSP00000295454	6.59E-05	CCDS3474.1		A:0.002	1	
KLHL32	0	LGGM	GRCh37	6	97561871	97561871	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	31	3	.	.	ENST00000369261.4:c.840C>A	p.Arg280=	p.R280=	ENST00000369261	NM_052904.3	280	cgC/cgA	0	1	1	UPI000020DFAB	0		ENST00000369261		ENSG00000186231	21221		34			HGNC	p.R280R		KLHL32		SNV							ENST00000369261	protein_coding			PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65		R		A		1203/3698							YES	KLHL32,synonymous_variant,p.=,ENST00000369261,NM_052904.3;KLHL32,synonymous_variant,p.=,ENST00000536676,NM_001286250.1;KLHL32,synonymous_variant,p.=,ENST00000539200,NM_001286251.1;KLHL32,3_prime_UTR_variant,,ENST00000447886,;KLHL32,intron_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000369254,;							LOW	840/1863		KLH32_HUMAN			Transcript			.	ENSP00000358265		CCDS5038.1			1	
COL19A1	0	LGGM	GRCh37	6	70897821	70897821	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	27	3	.	.	ENST00000322773.4:c.2899C>A	p.Arg967=	p.R967=	ENST00000322773	NM_001858.4	967	Cgg/Agg	0	1	1	UPI000004F1E3	0		ENST00000322773		ENSG00000082293	2196		30			HGNC	p.R967R		COL19A1		SNV							ENST00000322773	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF80		R		A		3001/6232							YES	COL19A1,synonymous_variant,p.=,ENST00000322773,NM_001858.4;COL19A1,synonymous_variant,p.=,ENST00000393344,;							LOW	2899/3429		COJA1_HUMAN			Transcript			.	ENSP00000316030		CCDS4970.1			1	
JADE1	0	LGGM	GRCh37	4	129776824	129776824	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	27	3	.	.	ENST00000226319.6:c.736C>A	p.Leu246Met	p.L246M	ENST00000226319	NM_199320.2	246	Ctg/Atg	0	1	1	UPI000020B45B	0	getma.org/pdb.php?prot=JADE1_HUMAN&from=217&to=251&var=L246M	ENST00000226319		ENSG00000077684	30027		30	2.14		HGNC	p.L246M		JADE1		SNV							ENST00000413543	protein_coding	getma.org/?cm=var&var=hg19,4,129776824,C,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13831,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF79,SMART_domains:SM00249,Superfamily_domains:SSF57903		L/M		A	medium	1016/5771		getma.org/?cm=msa&ty=f&p=JADE1_HUMAN&rb=217&re=251&var=L246M	deleterious(0)	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN			YES	JADE1,missense_variant,p.Leu246Met,ENST00000226319,NM_199320.2,NM_001287443.1,NM_001287440.1,NM_001287439.1,NM_001287442.1;JADE1,missense_variant,p.Leu234Met,ENST00000452328,NM_001287437.1;JADE1,missense_variant,p.Leu246Met,ENST00000413543,NM_001287441.1;JADE1,missense_variant,p.Leu246Met,ENST00000511647,NM_024900.3;JADE1,missense_variant,p.Leu246Met,ENST00000512960,;JADE1,downstream_gene_variant,,ENST00000511925,;							MODERATE	736/2529	L246M	JADE1_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000226319		CCDS34062.1			1	
SPTBN5	0	LGGM	GRCh37	15	42146988	42146988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	40	3	.	.	ENST00000320955.6:c.9610C>A	p.Arg3204Ser	p.R3204S	ENST00000320955	NM_016642.3	3204	Cgc/Agc	0	1	1	UPI0000E59BE4	0	getma.org/pdb.php?prot=SPTN5_HUMAN&from=3105&to=3210&var=R3204S	ENST00000320955		ENSG00000137877	15680		43	2.955		HGNC	p.R3204S	rs541049838	SPTBN5	0.000707	SNV							ENST00000320955	protein_coding	getma.org/?cm=var&var=hg19,15,42146988,G,T&fts=all	T:0	hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF249,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/S		T	medium	9838/11722		getma.org/?cm=msa&ty=f&p=SPTN5_HUMAN&rb=3105&re=3210&var=R3204S			T:0	T:0	YES	SPTBN5,missense_variant,p.Arg3204Ser,ENST00000320955,NM_016642.3;RNA5SP393,upstream_gene_variant,,ENST00000363423,;SPTBN5,upstream_gene_variant,,ENST00000563899,;		T:0.0002					MODERATE	9610/11025	R3204S	SPTN5_HUMAN		T:0	Transcript		probably_damaging(0.963)	common_variant	ENSP00000317790	5.79E-05	CCDS61599.1		T:0.001	1	
ENPP7	0	LGGM	GRCh37	17	77709417	77709417	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000328313.5:c.975C>A	p.Pro325=	p.P325=	ENST00000328313	NM_178543.3	325	ccC/ccA	0	1	1	UPI00001983C8	0		ENST00000328313		ENSG00000182156	23764		24			HGNC	p.P325P		ENPP7		SNV							ENST00000328313	protein_coding			Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF63,Superfamily_domains:SSF53649		P		A		1196/2043				I3L3G5_HUMAN			YES	ENPP7,synonymous_variant,p.=,ENST00000328313,NM_178543.3;ENPP7,synonymous_variant,p.=,ENST00000576512,;							LOW	975/1377		ENPP7_HUMAN			Transcript			.	ENSP00000332656		CCDS11763.1			1	
TOP3B	0	LGGM	GRCh37	22	22311702	22311702	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	12	3	.	.	ENST00000398793.2:c.2373G>T	p.Pro791=	p.P791=	ENST00000398793	NM_003935.3	791	ccG/ccT	0	1		UPI00001371A1	0		ENST00000357179		ENSG00000100038	11993		15			HGNC	p.P791P		TOP3B		SNV							ENST00000357179	protein_coding			hmmpanther:PTHR11390,hmmpanther:PTHR11390:SF20		P		A		2558/2863				C9JTQ7_HUMAN,C9JT00_HUMAN,C9JKE2_HUMAN,C9JHR0_HUMAN,C9JEQ1_HUMAN,C9JEI7_HUMAN,C9J9X4_HUMAN				TOP3B,synonymous_variant,p.=,ENST00000398793,NM_003935.3;TOP3B,synonymous_variant,p.=,ENST00000357179,NM_001282113.1,NM_001282112.1;TOP3B,3_prime_UTR_variant,,ENST00000457270,;PPM1F,upstream_gene_variant,,ENST00000263212,NM_014634.3;TOP3B,downstream_gene_variant,,ENST00000413067,;PPM1F,upstream_gene_variant,,ENST00000397495,;PPM1F,upstream_gene_variant,,ENST00000497072,;TOP3B,3_prime_UTR_variant,,ENST00000444502,;TOP3B,3_prime_UTR_variant,,ENST00000457179,;TOP3B,3_prime_UTR_variant,,ENST00000436282,;TOP3B,downstream_gene_variant,,ENST00000470338,;							LOW	2373/2589		TOP3B_HUMAN			Transcript			.	ENSP00000349705		CCDS13797.1			1	
CUX1	0	LGGM	GRCh37	7	101843364	101843364	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	22	3	.	.	ENST00000360264.3:c.2007C>T	p.Thr669=	p.T669=	ENST00000360264	NM_001202543.1	669	acC/acT	0	1		UPI0000246CDF	0		ENST00000292535		ENSG00000257923	2557		25			HGNC	p.T658T		CUX1		SNV							ENST00000292535	protein_coding			hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4		T		T		2012/13747								CUX1,synonymous_variant,p.=,ENST00000360264,NM_001202543.1;CUX1,synonymous_variant,p.=,ENST00000292535,NM_181552.3;CUX1,synonymous_variant,p.=,ENST00000549414,;CUX1,synonymous_variant,p.=,ENST00000546411,;CUX1,intron_variant,,ENST00000550008,;CUX1,intron_variant,,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,;							LOW	1974/4518		CUX1_HUMAN			Transcript			.	ENSP00000292535		CCDS5721.1			1	
MFSD9	0	LGGM	GRCh37	2	103335165	103335165	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	14	3	.	.	ENST00000258436.5:c.1139C>A	p.Ser380Tyr	p.S380Y	ENST00000258436	NM_032718.3	380	tCc/tAc	0	1	1	UPI0000070215	0	NA	ENST00000258436		ENSG00000135953	28158		17	1.355		HGNC	p.S380Y		MFSD9		SNV							ENST00000258436	protein_coding	getma.org/?cm=var&var=hg19,2,103335165,G,T&fts=all		Low_complexity_(Seg):seg,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		S/Y		T	low	1183/4049		getma.org/?cm=msa&ty=f&p=MFSD9_HUMAN&rb=49&re=427&var=S380Y	tolerated(0.06)	B4DKY6_HUMAN			YES	MFSD9,missense_variant,p.Ser380Tyr,ENST00000258436,NM_032718.3;MFSD9,upstream_gene_variant,,ENST00000496253,;MFSD9,3_prime_UTR_variant,,ENST00000438943,;MFSD9,3_prime_UTR_variant,,ENST00000437075,;MFSD9,downstream_gene_variant,,ENST00000411991,;MFSD9,downstream_gene_variant,,ENST00000428085,;							MODERATE	1139/1425	S380Y	MFSD9_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000258436		CCDS2063.1			1	
CA5A	0	LGGM	GRCh37	16	87960479	87960479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	10	3	.	.	ENST00000309893.2:c.215G>T	p.Arg72Met	p.R72M	ENST00000309893	NM_001739.1	72	aGg/aTg	0	1	1	UPI0000126DF3	0	getma.org/pdb.php?prot=CAH5A_HUMAN&from=33&to=296&var=R72M	ENST00000309893		ENSG00000174990	1377		13	2.565		HGNC	p.R72M		CA5A		SNV			1				ENST00000309893	protein_coding	getma.org/?cm=var&var=hg19,16,87960479,C,A&fts=all		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF89,SMART_domains:SM01057,Superfamily_domains:SSF51069		R/M		A	medium	281/1094		getma.org/?cm=msa&ty=f&p=CAH5A_HUMAN&rb=33&re=296&var=R72M	deleterious(0)				YES	CA5A,missense_variant,p.Arg72Met,ENST00000309893,NM_001739.1;CA5A,non_coding_transcript_exon_variant,,ENST00000568801,;							MODERATE	215/918	R72M	CAH5A_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000309649		CCDS10965.1			1	
IL2RG	0	LGGM	GRCh37	X	70329095	70329095	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	20	3	.	.	ENST00000374202.2:c.740G>T	p.Gly247Val	p.G247V	ENST00000374202	NM_000206.2	247	gGg/gTg	0	1	1	UPI0000000DEA	0	getma.org/pdb.php?prot=IL2RG_HUMAN&from=231&to=369&var=G247V	ENST00000374202		ENSG00000147168	6010		23	2.25		HGNC	p.G247V		IL2RG		SNV			1				ENST00000374202	protein_coding	getma.org/?cm=var&var=hg19,X,70329095,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF92,hmmpanther:PTHR23036,Gene3D:2.60.40.10		G/V		A	medium	832/1534		getma.org/?cm=msa&ty=f&p=IL2RG_HUMAN&rb=231&re=369&var=G247V	deleterious(0)	Q6LER1_HUMAN,D6RDW9_HUMAN			YES	IL2RG,missense_variant,p.Gly247Val,ENST00000374202,NM_000206.2;IL2RG,missense_variant,p.Gly203Val,ENST00000464642,;IL2RG,missense_variant,p.Gly57Val,ENST00000456850,;IL2RG,missense_variant,p.Gly52Val,ENST00000482750,;IL2RG,synonymous_variant,p.=,ENST00000374188,;IL2RG,downstream_gene_variant,,ENST00000487883,;CXorf65,upstream_gene_variant,,ENST00000374251,NM_001025265.2;IL2RG,downstream_gene_variant,,ENST00000473378,;IL2RG,non_coding_transcript_exon_variant,,ENST00000276110,;IL2RG,non_coding_transcript_exon_variant,,ENST00000512747,;CXorf65,upstream_gene_variant,,ENST00000438526,;CXorf65,upstream_gene_variant,,ENST00000483257,;CXorf65,upstream_gene_variant,,ENST00000466160,;							MODERATE	740/1110	G247V	IL2RG_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000363318		CCDS14406.1			1	
KHDRBS1	0	LGGM	GRCh37	1	32508168	32508168	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	19	3	.	.	ENST00000327300.7:c.1275C>A	p.Ala425=	p.A425=	ENST00000327300	NM_006559.2	425	gcC/gcA	0	1	1	UPI0000073DA7	0		ENST00000327300		ENSG00000121774	18116		22			HGNC	p.A386A		KHDRBS1		SNV							ENST00000492989	protein_coding			hmmpanther:PTHR11208:SF30,hmmpanther:PTHR11208		A		A		1442/2757				B4E043_HUMAN			YES	KHDRBS1,synonymous_variant,p.=,ENST00000327300,NM_006559.2,NM_001271878.1;KHDRBS1,synonymous_variant,p.=,ENST00000492989,;KHDRBS1,non_coding_transcript_exon_variant,,ENST00000307714,;KHDRBS1,non_coding_transcript_exon_variant,,ENST00000484270,;							LOW	1275/1332		KHDR1_HUMAN			Transcript			.	ENSP00000313829		CCDS350.1			1	
NPIPB11	0	LGGM	GRCh37	16	29392825	29392825	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	3	.	.	ENST00000524087.1:c.3428G>T	p.Arg1143Leu	p.R1143L	ENST00000524087		1143	cGg/cTg	0	1	1	UPI0001E8F094	0	NA	ENST00000524087		ENSG00000254206	37453		33	0		HGNC	p.R1143L		NPIPB11		SNV							ENST00000524087	protein_coding	getma.org/?cm=var&var=hg19,16,29392825,C,A&fts=all		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		R/L		A	neutral	3503/3653		getma.org/?cm=msa&ty=f&p=B4DTM5_HUMAN&rb=948&re=1043&var=R996L	deleterious_low_confidence(0.05)	F5H8A1_HUMAN,F5H5F2_HUMAN,F5GWQ4_HUMAN			YES	NPIPB11,missense_variant,p.Arg1143Leu,ENST00000524087,;SNX29P2,intron_variant,,ENST00000398878,;							MODERATE	3428/3486	R996L	NPB11_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000430853					1	
EP400	0	LGGM	GRCh37	12	132512074	132512074	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	8	3	.	.	ENST00000389561.2:c.5107C>A	p.Gln1703Lys	p.Q1703K	ENST00000389561	NM_015409.4	1703	Cag/Aag	0	1	1	UPI00004566BC	0	NA	ENST00000389561		ENSG00000183495	11958		11	1.355		HGNC	p.Q1703K		EP400		SNV							ENST00000389561	protein_coding	getma.org/?cm=var&var=hg19,12,132512074,C,A&fts=all		hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		Q/K		A	low	5216/12268		getma.org/?cm=msa&ty=f&p=EP400_HUMAN&rb=1730&re=1929&var=Q1739K					YES	EP400,missense_variant,p.Gln1739Lys,ENST00000333577,;EP400,missense_variant,p.Gln1703Lys,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Gln1702Lys,ENST00000389562,;EP400,missense_variant,p.Gln1666Lys,ENST00000332482,;EP400,missense_variant,p.Gln1622Lys,ENST00000330386,;SNORA49,upstream_gene_variant,,ENST00000386157,NR_002979.2;							MODERATE	5107/9372	Q1739K	EP400_HUMAN			Transcript		unknown(0)	.	ENSP00000374212		CCDS31929.2			1	
EYA3	0	LGGM	GRCh37	1	28330929	28330929	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	45	3	.	.	ENST00000373871.3:c.911G>T	p.Arg304Leu	p.R304L	ENST00000373871		304	cGg/cTg	0	1	1	UPI000015FFE5	0	getma.org/pdb.php?prot=EYA3_HUMAN&from=1&to=571&var=R304L	ENST00000373871		ENSG00000158161	3521		48	2.165		HGNC	p.R178L		EYA3		SNV							ENST00000436342	protein_coding	getma.org/?cm=var&var=hg19,1,28330929,C,A&fts=all		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF5,TIGRFAM_domain:TIGR01658		R/L		A	medium	1152/6085		getma.org/?cm=msa&ty=f&p=EYA3_HUMAN&rb=1&re=571&var=R304L	deleterious(0)	B4DNZ7_HUMAN			YES	EYA3,missense_variant,p.Arg304Leu,ENST00000373871,;EYA3,missense_variant,p.Arg178Leu,ENST00000436342,NM_001990.3;EYA3,missense_variant,p.Arg147Leu,ENST00000373864,;EYA3,missense_variant,p.Arg251Leu,ENST00000545175,NM_001282562.1;EYA3,missense_variant,p.Arg258Leu,ENST00000540618,NM_001282561.1;EYA3,missense_variant,p.Arg258Leu,ENST00000373863,NM_001282560.1;EYA3,splice_region_variant,,ENST00000471498,;EYA3,splice_region_variant,,ENST00000495923,;							MODERATE	911/1722	R304L	EYA3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362978		CCDS316.1			1	
DPP7	0	LGGM	GRCh37	9	140006171	140006171	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000371579.2:c.1243G>T	p.Gly415Trp	p.G415W	ENST00000371579	NM_013379.2	415	Ggg/Tgg	0	1	1	UPI00001AF169	0	getma.org/pdb.php?prot=DPP2_HUMAN&from=38&to=465&var=G415W	ENST00000371579		ENSG00000176978	14892		24	3.81		HGNC	p.G415W		DPP7		SNV							ENST00000371579	protein_coding	getma.org/?cm=var&var=hg19,9,140006171,C,A&fts=all		hmmpanther:PTHR11010:SF29,hmmpanther:PTHR11010,Gene3D:3.40.50.1820,Pfam_domain:PF05577,Superfamily_domains:SSF53474		G/W		A	high	1248/1590		getma.org/?cm=msa&ty=f&p=DPP2_HUMAN&rb=38&re=465&var=G415W	deleterious(0)				YES	DPP7,missense_variant,p.Gly415Trp,ENST00000371579,NM_013379.2;DPP7,missense_variant,p.Gly167Trp,ENST00000463619,;MAN1B1,downstream_gene_variant,,ENST00000371589,NM_016219.4;MAN1B1,downstream_gene_variant,,ENST00000474902,;MAN1B1,downstream_gene_variant,,ENST00000535144,;MAN1B1,downstream_gene_variant,,ENST00000475449,;DPP7,downstream_gene_variant,,ENST00000497375,;MAN1B1,downstream_gene_variant,,ENST00000550113,;DPP7,downstream_gene_variant,,ENST00000473703,;MAN1B1,downstream_gene_variant,,ENST00000540391,;DPP7,synonymous_variant,p.=,ENST00000470766,;DPP7,3_prime_UTR_variant,,ENST00000473532,;DPP7,non_coding_transcript_exon_variant,,ENST00000483783,;MAN1B1,downstream_gene_variant,,ENST00000536349,;MAN1B1,downstream_gene_variant,,ENST00000535028,;MAN1B1,downstream_gene_variant,,ENST00000480100,;MAN1B1,downstream_gene_variant,,ENST00000544448,;DPP7,downstream_gene_variant,,ENST00000485456,;DPP7,downstream_gene_variant,,ENST00000478597,;DPP7,downstream_gene_variant,,ENST00000472306,;DPP7,downstream_gene_variant,,ENST00000460830,;DPP7,downstream_gene_variant,,ENST00000491807,;MAN1B1,downstream_gene_variant,,ENST00000536268,;DPP7,downstream_gene_variant,,ENST00000482088,;							MODERATE	1243/1479	G415W	DPP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360635		CCDS7030.1			1	
RNF220	0	LGGM	GRCh37	1	45111075	45111075	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	17	3	.	.	ENST00000355387.2:c.1367-7C>A		p.X456_splice	ENST00000355387				0	1	1	UPI000035895E	0		ENST00000355387		ENSG00000187147	25552		20			HGNC	p.G172V		RNF220		SNV							ENST00000372242	protein_coding							A		-/3099				D3DPZ1_HUMAN			YES	TMEM53,missense_variant,p.Gly172Val,ENST00000372242,;TMEM53,missense_variant,p.Gly82Val,ENST00000372243,;TMEM53,missense_variant,p.Trp41Cys,ENST00000372244,;RNF220,splice_region_variant,,ENST00000355387,;RNF220,splice_region_variant,,ENST00000361799,NM_018150.2;RNF220,splice_region_variant,,ENST00000372247,;RNF220,splice_region_variant,,ENST00000443020,;RNF220,splice_region_variant,,ENST00000335497,;RNF220,splice_region_variant,,ENST00000440132,;RNF220,splice_region_variant,,ENST00000480686,;RNF220,splice_region_variant,,ENST00000474064,;RNF220,splice_region_variant,,ENST00000484745,;RNF220,splice_region_variant,,ENST00000475378,;RNF220,splice_region_variant,,ENST00000474394,;TMEM53,intron_variant,,ENST00000495630,;RNF220,upstream_gene_variant,,ENST00000474956,;RNF220,downstream_gene_variant,,ENST00000471494,;RNF220,downstream_gene_variant,,ENST00000497469,;							LOW	-/1701		RN220_HUMAN			Transcript			.	ENSP00000347548		CCDS510.1			1	
CSNK2A2	0	LGGM	GRCh37	16	58201211	58201211	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	19	3	.	.	ENST00000262506.3:c.626T>C	p.Met209Thr	p.M209T	ENST00000262506	NM_001896.2	209	aTg/aCg	0	1	1	UPI0000000C95	0	getma.org/pdb.php?prot=CSK22_HUMAN&from=40&to=325&var=M209T	ENST00000262506		ENSG00000070770	2459		22	-0.445		HGNC	p.M209T		CSNK2A2		SNV							ENST00000262506	protein_coding	getma.org/?cm=var&var=hg19,16,58201211,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24054,hmmpanther:PTHR24054:SF3,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/T		G	neutral	810/1701		getma.org/?cm=msa&ty=f&p=CSK22_HUMAN&rb=40&re=325&var=M209T	tolerated(0.38)	H3BNI9_HUMAN			YES	CSNK2A2,missense_variant,p.Met11Thr,ENST00000563307,;CSNK2A2,missense_variant,p.Met209Thr,ENST00000262506,NM_001896.2;CSNK2A2,missense_variant,p.Met89Thr,ENST00000567730,;CSNK2A2,splice_region_variant,,ENST00000566813,;							MODERATE	626/1053	M209T	CSK22_HUMAN			Transcript		benign(0.022)	.	ENSP00000262506		CCDS10794.1			1	
MYT1	0	LGGM	GRCh37	20	62859313	62859313	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	45	3	.	.	ENST00000328439.1:c.2664C>A	p.Pro888=	p.P888=	ENST00000328439	NM_004535.2	888	ccC/ccA	0	1	1	UPI000012FBFA	0		ENST00000328439		ENSG00000196132	7622		48			HGNC	p.P888P		MYT1		SNV							ENST00000328439	protein_coding			hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10		P		A		3028/5533							YES	MYT1,synonymous_variant,p.=,ENST00000536311,;MYT1,synonymous_variant,p.=,ENST00000328439,NM_004535.2;MYT1,synonymous_variant,p.=,ENST00000360149,;							LOW	2664/3366		MYT1_HUMAN			Transcript			.	ENSP00000327465		CCDS13558.1			1	
MIDN	0	LGGM	GRCh37	19	1254985	1254985	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000300952.2:c.781C>A	p.Arg261Ser	p.R261S	ENST00000300952	NM_177401.4	261	Cgc/Agc	0	1	1	UPI0000202EF1	0	NA	ENST00000300952		ENSG00000167470	16298		24	0.75		HGNC	p.R261S		MIDN		SNV							ENST00000591446	protein_coding	getma.org/?cm=var&var=hg19,19,1254985,C,A&fts=all		hmmpanther:PTHR23010,hmmpanther:PTHR23010:SF0,Low_complexity_(Seg):seg		R/S		A	neutral	1296/3790		getma.org/?cm=msa&ty=f&p=MIDN_HUMAN&rb=101&re=300&var=R261S	deleterious(0.03)	K7END3_HUMAN			YES	MIDN,missense_variant,p.Arg261Ser,ENST00000300952,NM_177401.4;MIDN,missense_variant,p.Arg261Ser,ENST00000591446,;CIRBP,upstream_gene_variant,,ENST00000588030,;MIDN,downstream_gene_variant,,ENST00000586757,;MIDN,downstream_gene_variant,,ENST00000586843,;MIDN,downstream_gene_variant,,ENST00000590136,;MIDN,downstream_gene_variant,,ENST00000591302,;							MODERATE	781/1407	R261S	MIDN_HUMAN			Transcript		benign(0.353)	.	ENSP00000300952		CCDS32864.1			1	
LIMK1	0	LGGM	GRCh37	7	73520557	73520557	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	39	3	.	.	ENST00000336180.2:c.865C>A	p.Arg289=	p.R289=	ENST00000336180	NM_002314.3	289	Cgg/Agg	0	1	1	UPI000013D678	0		ENST00000336180		ENSG00000106683	6613		42			HGNC	p.R289R	rs191821726,COSM1550231	LIMK1		SNV			1			0,1	ENST00000336180	protein_coding		T:0.0008	Gene3D:3.30.200.20,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379		R		A		916/3219				Q75MU4_HUMAN	T:0	T:0.001	YES	LIMK1,synonymous_variant,p.=,ENST00000418310,;LIMK1,synonymous_variant,p.=,ENST00000336180,NM_002314.3;LIMK1,synonymous_variant,p.=,ENST00000538333,NM_001204426.1;LIMK1,downstream_gene_variant,,ENST00000491052,;LIMK1,synonymous_variant,p.=,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000483414,;	0.000116	T:0.0004			0,1		LOW	865/1944		LIMK1_HUMAN		T:0	Transcript			.	ENSP00000336740	8.24E-06	CCDS5563.1		T:0	1	
UBL5	0	LGGM	GRCh37	19	9939284	9939284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	3	.	.	ENST00000358666.3:c.73G>T	p.Gly25Trp	p.G25W	ENST00000358666	NM_024292.3	25	Ggg/Tgg	0	1	1	UPI000002739C	0		ENST00000358666		ENSG00000198258	13736		47			HGNC	p.G25W		UBL5		SNV							ENST00000358666	protein_coding			Gene3D:3.10.20.90,Pfam_domain:PF00240,hmmpanther:PTHR13042,Superfamily_domains:SSF54236		G/W		T		257/513			deleterious(0.02)				YES	UBL5,missense_variant,p.Gly25Trp,ENST00000358666,NM_024292.3;UBL5,missense_variant,p.Gly25Trp,ENST00000586895,NM_001048241.2;UBL5,missense_variant,p.Gly25Trp,ENST00000590068,;UBL5,intron_variant,,ENST00000593087,;FBXL12,upstream_gene_variant,,ENST00000585379,;RN7SL94P,downstream_gene_variant,,ENST00000583875,;UBL5,intron_variant,,ENST00000589960,;UBL5,non_coding_transcript_exon_variant,,ENST00000589372,;UBL5,non_coding_transcript_exon_variant,,ENST00000588141,;UBL5,non_coding_transcript_exon_variant,,ENST00000588595,;							MODERATE	73/222		UBL5_HUMAN			Transcript		benign(0.04)	.	ENSP00000351492		CCDS12219.1			1	
COL5A2	0	LGGM	GRCh37	2	189898877	189898877	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	37	3	.	.	ENST00000374866.3:c.4419C>A	p.Pro1473=	p.P1473=	ENST00000374866	NM_000393.3	1473	ccC/ccA	0	1	1	UPI00006C511C	0		ENST00000374866		ENSG00000204262	2210		40			HGNC	p.P1473P		COL5A2		SNV			1				ENST00000374866	protein_coding			SMART_domains:SM00038,Pfam_domain:PF01410,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481,PROSITE_profiles:PS51461		P		T		4694/6949				D3DPH5_HUMAN			YES	COL5A2,synonymous_variant,p.=,ENST00000374866,NM_000393.3;							LOW	4419/4500		CO5A2_HUMAN			Transcript			.	ENSP00000364000		CCDS33350.1			1	
CTC1	0	LGGM	GRCh37	17	8133943	8133943	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	26	3	.	.	ENST00000315684.8:c.2696C>A	p.Ser899Tyr	p.S899Y	ENST00000315684	NM_025099.5	899	tCc/tAc	0	1	1	UPI000041A9A9	0	NA	ENST00000315684		ENSG00000178971	26169		29	2.14		HGNC	p.S864Y		CTC1		SNV			1				ENST00000449476	protein_coding	getma.org/?cm=var&var=hg19,17,8133943,G,T&fts=all		hmmpanther:PTHR14865,Pfam_domain:PF15489		S/Y		T	medium	2704/4024		getma.org/?cm=msa&ty=f&p=CTC1_HUMAN&rb=12&re=1215&var=S899Y	deleterious(0)				YES	CTC1,missense_variant,p.Ser899Tyr,ENST00000315684,NM_025099.5;CTC1,upstream_gene_variant,,ENST00000581729,;CTC1,upstream_gene_variant,,ENST00000580299,;CTC1,missense_variant,p.Ser864Tyr,ENST00000449476,;CTC1,synonymous_variant,p.=,ENST00000578537,;CTC1,non_coding_transcript_exon_variant,,ENST00000578240,;CTC1,non_coding_transcript_exon_variant,,ENST00000578441,;CTC1,non_coding_transcript_exon_variant,,ENST00000584439,;CTC1,downstream_gene_variant,,ENST00000581967,;CTC1,downstream_gene_variant,,ENST00000579066,;CTC1,downstream_gene_variant,,ENST00000583254,;							MODERATE	2696/3654	S899Y	CTC1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000313759		CCDS42259.1			1	
CELSR1	0	LGGM	GRCh37	22	46932103	46932103	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	13	3	.	.	ENST00000262738.3:c.965G>T	p.Arg322Met	p.R322M	ENST00000262738	NM_014246.1	322	aGg/aTg	0	1	1	UPI0000040648	0	getma.org/pdb.php?prot=CELR1_HUMAN&from=250&to=344&var=R322M	ENST00000262738		ENSG00000075275	1850		16	2.635		HGNC	p.R322M		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46932103,C,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268		R/M		A	medium	965/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=250&re=344&var=R322M	deleterious(0)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.Arg322Met,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Arg322Met,ENST00000395964,;CELSR1,upstream_gene_variant,,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;							MODERATE	965/9045	R322M	CELR1_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000262738		CCDS14076.1			1	
ITPRIP	0	LGGM	GRCh37	10	106075736	106075736	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	17	3	.	.	ENST00000278071.2:c.74G>T	p.Arg25Leu	p.R25L	ENST00000278071	NM_033397.3	25	cGg/cTg	0	1	1	UPI0000074521	0	NA	ENST00000278071		ENSG00000148841	29370		20	0.55		HGNC	p.R25L		ITPRIP		SNV							ENST00000358187	protein_coding	getma.org/?cm=var&var=hg19,10,106075736,C,A&fts=all				R/L		A	neutral	527/4362		getma.org/?cm=msa&ty=f&p=IPRI_HUMAN&rb=1&re=78&var=R25L	deleterious(0.03)				YES	ITPRIP,missense_variant,p.Arg25Leu,ENST00000278071,NM_033397.3;ITPRIP,missense_variant,p.Arg25Leu,ENST00000337478,NM_001272013.1;ITPRIP,missense_variant,p.Arg25Leu,ENST00000358187,NM_001272012.1;ITPRIP,missense_variant,p.Arg25Leu,ENST00000458723,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;							MODERATE	74/1644	R25L	IPRI_HUMAN			Transcript		benign(0.195)	.	ENSP00000278071		CCDS7557.1			1	
RBBP8NL	0	LGGM	GRCh37	20	60990704	60990704	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	6	3	.	.	ENST00000252998.1:c.557G>A	p.Gly186Glu	p.G186E	ENST00000252998	NM_080833.2	186	gGg/gAg	0	1	1	UPI000013CDA2	0	NA	ENST00000252998		ENSG00000130701	16144		9	1.65		HGNC	p.G186E		RBBP8NL		SNV							ENST00000252998	protein_coding	getma.org/?cm=var&var=hg19,20,60990704,C,T&fts=all		hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1		G/E		T	low	714/2793		getma.org/?cm=msa&ty=f&p=CT151_HUMAN&rb=124&re=610&var=G186E	tolerated(0.08)				YES	RBBP8NL,missense_variant,p.Gly186Glu,ENST00000252998,NM_080833.2;							MODERATE	557/1995	G186E	RB8NL_HUMAN			Transcript		benign(0.086)	.	ENSP00000252998		CCDS13498.1			1	
SLC25A22	0	LGGM	GRCh37	11	792452	792452	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	13	3	.	.	ENST00000320230.5:c.594C>T	p.Val198=	p.V198=	ENST00000320230	NM_024698.5	198	gtC/gtT	0	1	1	UPI0000073CD3	0		ENST00000320230		ENSG00000177542	19954		16			HGNC	p.V198V		SLC25A22		SNV			1				ENST00000531214	protein_coding			Prints_domain:PR00926,Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,hmmpanther:PTHR24089:SF219,hmmpanther:PTHR24089,PROSITE_profiles:PS50920		V		A		1076/2894				K4DIB8_HUMAN,K4DIB6_HUMAN,K4DIB4_HUMAN,K4DIB3_HUMAN,K4DIB2_HUMAN,K4DIB0_HUMAN,K4DIA8_HUMAN,K4DIA2_HUMAN,E9PQ36_HUMAN,E9PI74_HUMAN			YES	SLC25A22,synonymous_variant,p.=,ENST00000320230,NM_024698.5,NM_001191061.1;SLC25A22,synonymous_variant,p.=,ENST00000531214,NM_001191060.1;SLC25A22,synonymous_variant,p.=,ENST00000481290,;SLC25A22,synonymous_variant,p.=,ENST00000531437,;CEND1,upstream_gene_variant,,ENST00000330106,NM_016564.3;SLC25A22,downstream_gene_variant,,ENST00000533385,;SLC25A22,downstream_gene_variant,,ENST00000526152,;SLC25A22,downstream_gene_variant,,ENST00000531514,;SLC25A22,downstream_gene_variant,,ENST00000527723,;SLC25A22,downstream_gene_variant,,ENST00000456706,;SLC25A22,downstream_gene_variant,,ENST00000531534,;SLC25A22,downstream_gene_variant,,ENST00000532484,;SLC25A22,downstream_gene_variant,,ENST00000528606,;SLC25A22,downstream_gene_variant,,ENST00000529066,;SLC25A22,downstream_gene_variant,,ENST00000528936,;SLC25A22,downstream_gene_variant,,ENST00000530360,;CEND1,upstream_gene_variant,,ENST00000524587,;SLC25A22,downstream_gene_variant,,ENST00000532361,;SLC25A22,downstream_gene_variant,,ENST00000529351,;SLC25A22,downstream_gene_variant,,ENST00000527127,;SLC25A22,downstream_gene_variant,,ENST00000527734,;SLC25A22,downstream_gene_variant,,ENST00000532459,;SLC25A22,downstream_gene_variant,,ENST00000525010,;SLC25A22,downstream_gene_variant,,ENST00000525644,;SLC25A22,downstream_gene_variant,,ENST00000524891,;							LOW	594/972		GHC1_HUMAN			Transcript			.	ENSP00000322020		CCDS7715.1			1	
GUCY1A2	0	LGGM	GRCh37	11	106647247	106647247	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	27	3	.	.	ENST00000282249.2:c.1754A>T	p.His585Leu	p.H585L	ENST00000282249	NM_001256424.1	585	cAt/cTt	0	1		UPI0000128C17	0	getma.org/pdb.php?prot=GCYA2_HUMAN&from=512&to=699&var=H585L	ENST00000526355		ENSG00000152402	4684		30	4.28		HGNC	p.H585L		GUCY1A2		SNV							ENST00000282249	protein_coding	getma.org/?cm=var&var=hg19,11,106647247,T,A&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF276,SMART_domains:SM00044,Superfamily_domains:SSF55073		H/L		A	high	2223/16205		getma.org/?cm=msa&ty=f&p=GCYA2_HUMAN&rb=512&re=699&var=H585L	deleterious(0)					GUCY1A2,missense_variant,p.His585Leu,ENST00000526355,NM_000855.2;GUCY1A2,missense_variant,p.His585Leu,ENST00000282249,NM_001256424.1;GUCY1A2,missense_variant,p.His606Leu,ENST00000347596,;							MODERATE	1754/2199	H585L	GCYA2_HUMAN			Transcript		benign(0.406)	.	ENSP00000431245		CCDS8335.1			1	
NEDD9	0	LGGM	GRCh37	6	11213730	11213730	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	26	3	.	.	ENST00000379446.5:c.243G>T	p.Leu81=	p.L81=	ENST00000379446	NM_001271033.1	81	ctG/ctT	0	1	1	UPI000000D981	0		ENST00000379446		ENSG00000111859	7733		29			HGNC	p.L81L		NEDD9		SNV							ENST00000379433	protein_coding			Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR10654:SF6,hmmpanther:PTHR10654		L		A		410/4536				D6RGD7_HUMAN			YES	NEDD9,synonymous_variant,p.=,ENST00000379446,NM_001271033.1,NM_006403.3;NEDD9,synonymous_variant,p.=,ENST00000379433,NM_182966.3;NEDD9,synonymous_variant,p.=,ENST00000504387,NM_001142393.1;NEDD9,downstream_gene_variant,,ENST00000513989,;NEDD9,downstream_gene_variant,,ENST00000508546,;NEDD9,downstream_gene_variant,,ENST00000397378,;RP3-510L9.1,intron_variant,,ENST00000500636,;NEDD9,3_prime_UTR_variant,,ENST00000448183,;							LOW	243/2505		CASL_HUMAN			Transcript			.	ENSP00000368759		CCDS4520.1			1	
SLC5A9	0	LGGM	GRCh37	1	48701407	48701407	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	25	3	.	.	ENST00000236495.5:c.1223G>T	p.Arg408Leu	p.R408L	ENST00000236495	NM_001135181.1	408	cGg/cTg	0	1		UPI0000418E63	0	getma.org/pdb.php?prot=SC5A9_HUMAN&from=67&to=496&var=R383L	ENST00000438567		ENSG00000117834	22146		28	2.33		HGNC	p.R383L		SLC5A9		SNV							ENST00000438567	protein_coding	getma.org/?cm=var&var=hg19,1,48701407,G,T&fts=all		PROSITE_profiles:PS50283,hmmpanther:PTHR11819:SF96,hmmpanther:PTHR11819,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813		R/L		T	medium	1200/3195		getma.org/?cm=msa&ty=f&p=SC5A9_HUMAN&rb=67&re=496&var=R383L	deleterious(0)					SLC5A9,missense_variant,p.Arg408Leu,ENST00000236495,NM_001135181.1;SLC5A9,missense_variant,p.Arg383Leu,ENST00000438567,NM_001011547.2;SLC5A9,missense_variant,p.Arg404Leu,ENST00000533824,;SLC5A9,3_prime_UTR_variant,,ENST00000420136,;SLC5A9,upstream_gene_variant,,ENST00000471020,;SLC5A9,upstream_gene_variant,,ENST00000525901,;SLC5A9,3_prime_UTR_variant,,ENST00000425816,;SLC5A9,3_prime_UTR_variant,,ENST00000441260,;SLC5A9,non_coding_transcript_exon_variant,,ENST00000493837,;SLC5A9,upstream_gene_variant,,ENST00000532322,;SLC5A9,downstream_gene_variant,,ENST00000527929,;							MODERATE	1148/2046	R383L	SC5A9_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000401730		CCDS30709.2			1	
HS6ST3	0	LGGM	GRCh37	13	97484885	97484885	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	15	3	.	.	ENST00000376705.2:c.849C>A	p.Thr283=	p.T283=	ENST00000376705	NM_153456.3	283	acC/acA	0	1	1	UPI00001AF933	0		ENST00000376705		ENSG00000185352	19134		18			HGNC	p.T283T		HS6ST3		SNV							ENST00000376705	protein_coding			hmmpanther:PTHR12812,hmmpanther:PTHR12812:SF3,Pfam_domain:PF03567,Superfamily_domains:SSF52540		T		A		873/1659				B3KX95_HUMAN			YES	HS6ST3,synonymous_variant,p.=,ENST00000376705,NM_153456.3;							LOW	849/1416		H6ST3_HUMAN			Transcript			.	ENSP00000365895		CCDS9481.1			1	
DNAH17	0	LGGM	GRCh37	17	76557873	76557873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	16	3	.	.	ENST00000389840.5:c.1759G>T	p.Gly587Trp	p.G587W	ENST00000389840		587	Ggg/Tgg	0	1	1	UPI0001A5EE11	0	NA	ENST00000389840		ENSG00000187775	2946		19	3.14		HGNC	p.G587W		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76557873,C,A&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08385		G/W		A	medium	1884/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=186&re=769&var=G587W					YES	DNAH17,missense_variant,p.Gly587Trp,ENST00000389840,;DNAH17,missense_variant,p.Gly587Trp,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000589793,;							MODERATE	1759/13458	G587W	DYH17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374490					1	
WWC1	0	LGGM	GRCh37	5	167858422	167858422	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	3	.	.	ENST00000521089.1:c.2253C>A	p.Thr751=	p.T751=	ENST00000521089		751	acC/acA	0	1		UPI000007443D	0		ENST00000265293		ENSG00000113645	29435		37			HGNC	p.T751T		WWC1		SNV							ENST00000521089	protein_coding			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF22,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		T		A		2755/7130								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,;							LOW	2253/3342		KIBRA_HUMAN			Transcript			.	ENSP00000265293		CCDS4366.1			1	
FAM20A	0	LGGM	GRCh37	17	66551763	66551763	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	24	3	.	.	ENST00000592554.1:c.526C>A	p.Arg176=	p.R176=	ENST00000592554	NM_001243746.1	176	Cgg/Agg	0	1	1	UPI00001AE65B	0		ENST00000592554		ENSG00000108950	23015		27			HGNC	p.R176R		FAM20A		SNV			1				ENST00000592554	protein_coding			hmmpanther:PTHR12450:SF12,hmmpanther:PTHR12450		R		T		1249/2955				L8B8N7_HUMAN			YES	FAM20A,synonymous_variant,p.=,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,;							LOW	526/1626		FA20A_HUMAN			Transcript			.	ENSP00000468308		CCDS11679.1			1	
CCDC113	0	LGGM	GRCh37	16	58312490	58312490	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	20	3	.	.	ENST00000219299.4:c.996G>T	p.Ala332=	p.A332=	ENST00000219299	NM_014157.3	332	gcG/gcT	0	1	1	UPI000007254E	0		ENST00000219299		ENSG00000103021	25002		23			HGNC	p.A332A		CCDC113		SNV							ENST00000219299	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF13870,hmmpanther:PTHR15654,hmmpanther:PTHR15654:SF2		A		T		1075/5272				H3BQS9_HUMAN			YES	CCDC113,synonymous_variant,p.=,ENST00000219299,NM_014157.3;CCDC113,synonymous_variant,p.=,ENST00000443128,NM_001142302.1;PRSS54,downstream_gene_variant,,ENST00000219301,NM_001080492.1;PRSS54,downstream_gene_variant,,ENST00000567164,;PRSS54,downstream_gene_variant,,ENST00000543437,;PRSS54,downstream_gene_variant,,ENST00000569079,;AC009107.1,upstream_gene_variant,,ENST00000366168,;							LOW	996/1134		CC113_HUMAN			Transcript			.	ENSP00000219299		CCDS10795.1			1	
OTUD7A	0	LGGM	GRCh37	15	31794019	31794019	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	25	3	.	.	ENST00000307050.4:c.1024G>T	p.Gly342Trp	p.G342W	ENST00000307050	NM_130901.1	342	Ggg/Tgg	0	1	1	UPI0000073AA5	0	getma.org/pdb.php?prot=OTU7A_HUMAN&from=205&to=368&var=G342W	ENST00000307050		ENSG00000169918	20718		28	3.165		HGNC	p.G349W		OTUD7A		SNV							ENST00000382902	protein_coding	getma.org/?cm=var&var=hg19,15,31794019,C,A&fts=all		PROSITE_profiles:PS50802,hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367,Pfam_domain:PF02338		G/W		A	medium	1117/3042		getma.org/?cm=msa&ty=f&p=OTU7A_HUMAN&rb=205&re=368&var=G342W	deleterious(0)	H0YN66_HUMAN			YES	OTUD7A,missense_variant,p.Gly349Trp,ENST00000382902,;OTUD7A,missense_variant,p.Gly342Trp,ENST00000307050,NM_130901.1;							MODERATE	1024/2781	G342W	OTU7A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000305926		CCDS10026.1			1	
LRBA	0	LGGM	GRCh37	4	151388934	151388934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	46	3	.	.	ENST00000357115.3:c.6704G>T	p.Arg2235Leu	p.R2235L	ENST00000357115	NM_006726.4	2235	cGg/cTg	0	1	1	UPI000013E35C	0	getma.org/pdb.php?prot=LRBA_HUMAN&from=2212&to=2489&var=R2235L	ENST00000357115		ENSG00000198589	1742		49	4.265		HGNC	p.R2235L		LRBA		SNV			1				ENST00000357115	protein_coding	getma.org/?cm=var&var=hg19,4,151388934,C,A&fts=all		PROSITE_profiles:PS50197,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837		R/L		A	high	6948/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=2212&re=2489&var=R2235L	deleterious(0)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Arg2224Leu,ENST00000535741,;LRBA,missense_variant,p.Arg2224Leu,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Arg2235Leu,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Arg2224Leu,ENST00000507224,;LRBA,missense_variant,p.Arg877Leu,ENST00000509835,;LRBA,non_coding_transcript_exon_variant,,ENST00000503716,;							MODERATE	6704/8592	R2235L	LRBA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349629		CCDS3773.1			1	
CXorf36	0	LGGM	GRCh37	X	45013434	45013434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	3	3	.	.	ENST00000398000.2:c.682G>T	p.Gly228Trp	p.G228W	ENST00000398000	NM_176819.3	228	Ggg/Tgg	0	1	1	UPI000059DAFE	0	NA	ENST00000398000		ENSG00000147113	25866		6	2.125		HGNC	p.G228W		CXorf36		SNV							ENST00000398000	protein_coding	getma.org/?cm=var&var=hg19,X,45013434,C,A&fts=all		Pfam_domain:PF12260,hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF8		G/W		A	medium	757/4655		getma.org/?cm=msa&ty=f&p=CX036_HUMAN&rb=1&re=431&var=G228W	deleterious(0)	B7Z295_HUMAN			YES	CXorf36,missense_variant,p.Gly228Trp,ENST00000398000,NM_176819.3;CXorf36,intron_variant,,ENST00000477281,;							MODERATE	682/1302	G228W	DIA1R_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000381086		CCDS48096.1			1	
KLHL25	0	LGGM	GRCh37	15	86311831	86311831	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	15	3	.	.	ENST00000337975.5:c.1211C>A	p.Pro404Gln	p.P404Q	ENST00000337975	NM_022480.3	404	cCg/cAg	0	1	1	UPI0000037CB1	0	NA	ENST00000337975		ENSG00000183655	25732		18	0.695		HGNC	p.P404Q		KLHL25		SNV							ENST00000536947	protein_coding	getma.org/?cm=var&var=hg19,15,86311831,G,T&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24410,hmmpanther:PTHR24410:SF6,SMART_domains:SM00612		P/Q		T	neutral	1486/3758		getma.org/?cm=msa&ty=f&p=ENC2_HUMAN&rb=377&re=431&var=P404Q	deleterious_low_confidence(0)				YES	KLHL25,missense_variant,p.Pro404Gln,ENST00000337975,NM_022480.3;KLHL25,missense_variant,p.Pro404Gln,ENST00000536947,;MIR1276,downstream_gene_variant,,ENST00000408707,;KLHL25,intron_variant,,ENST00000559131,;RP11-158M2.6,upstream_gene_variant,,ENST00000559631,;							MODERATE	1211/1770	P404Q	KLH25_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336800		CCDS10339.1			1	
AMY2A	0	LGGM	GRCh37	1	104166575	104166575	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	11	3	.	.	ENST00000414303.2:c.1189T>A	p.Trp397Arg	p.W397R	ENST00000414303	NM_000699.2	397	Tgg/Agg	0	1	1	UPI0000000C80	0	getma.org/pdb.php?prot=AMYP_HUMAN&from=352&to=420&var=W397R	ENST00000414303		ENSG00000243480	477		14	3.85		HGNC	p.W397R		AMY2A		SNV							ENST00000414303	protein_coding	getma.org/?cm=var&var=hg19,1,104166575,T,A&fts=all		hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445		W/R		A	high	1253/1634		getma.org/?cm=msa&ty=f&p=AMYP_HUMAN&rb=352&re=420&var=W397R	deleterious(0)				YES	AMY2A,missense_variant,p.Trp397Arg,ENST00000414303,NM_000699.2;AMY2A,downstream_gene_variant,,ENST00000423678,;AMY2A,non_coding_transcript_exon_variant,,ENST00000497748,;							MODERATE	1189/1536	W397R	AMYP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000397582		CCDS783.1			1	
BACE1	0	LGGM	GRCh37	11	117165861	117165861	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	23	3	.	.	ENST00000313005.6:c.553G>T	p.Ala185Ser	p.A185S	ENST00000313005	NM_138971.3	185	Gct/Tct	0	1	1	UPI000013F419	0	getma.org/pdb.php?prot=BACE1_HUMAN&from=74&to=418&var=A185S	ENST00000313005		ENSG00000186318	933		26	0.77		HGNC	p.A185S		BACE1		SNV							ENST00000528053	protein_coding	getma.org/?cm=var&var=hg19,11,117165861,C,A&fts=all		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF245,Gene3D:2.40.70.10,Pfam_domain:PF00026,Superfamily_domains:SSF50630		A/S		A	neutral	1014/5847		getma.org/?cm=msa&ty=f&p=BACE1_HUMAN&rb=74&re=418&var=A185S	tolerated(0.21)	U3KPS1_HUMAN,H0YDX0_HUMAN			YES	BACE1,missense_variant,p.Ala185Ser,ENST00000313005,NM_138971.3,NM_138972.3,NM_012104.4,NM_138973.3;BACE1,missense_variant,p.Ala85Ser,ENST00000392937,NM_001207049.1,NM_001207048.1;BACE1,missense_variant,p.Ala185Ser,ENST00000528053,;BACE1,missense_variant,p.Ala185Ser,ENST00000513780,;BACE1,missense_variant,p.Ala85Ser,ENST00000510630,;BACE1,5_prime_UTR_variant,,ENST00000504995,;BACE1,5_prime_UTR_variant,,ENST00000510915,;BACE1,intron_variant,,ENST00000445823,;BACE1,intron_variant,,ENST00000428381,;BACE1,intron_variant,,ENST00000514464,;BACE1,upstream_gene_variant,,ENST00000530824,;BACE1,upstream_gene_variant,,ENST00000509916,;							MODERATE	553/1506	A185S	BACE1_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000318585		CCDS8383.1			1	
DEDD2	0	LGGM	GRCh37	19	42703751	42703751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	11	3	.	.	ENST00000595337.1:c.820G>T	p.Ala274Ser	p.A274S	ENST00000595337	NM_001270614.1	274	Gcc/Tcc	0	1	1	UPI0000046657	0	NA	ENST00000595337		ENSG00000160570	24450		14	0.895		HGNC	p.A269S		DEDD2		SNV							ENST00000336034	protein_coding	getma.org/?cm=var&var=hg19,19,42703751,C,A&fts=all		hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF1		A/S		A	low	908/1894		getma.org/?cm=msa&ty=f&p=DEDD2_HUMAN&rb=186&re=311&var=A274S	deleterious(0.02)	M0QYK9_HUMAN			YES	DEDD2,missense_variant,p.Ala274Ser,ENST00000595337,NM_001270614.1;DEDD2,missense_variant,p.Ala269Ser,ENST00000336034,NM_001270615.1,NM_133328.3;DEDD2,missense_variant,p.Ala274Ser,ENST00000596251,;DEDD2,downstream_gene_variant,,ENST00000598727,;DEDD2,non_coding_transcript_exon_variant,,ENST00000593804,;DEDD2,non_coding_transcript_exon_variant,,ENST00000602075,;DEDD2,non_coding_transcript_exon_variant,,ENST00000601135,;DEDD2,non_coding_transcript_exon_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,;							MODERATE	820/981	A274S	DEDD2_HUMAN			Transcript		benign(0.015)	.	ENSP00000470082		CCDS12597.1			1	
SNX21	0	LGGM	GRCh37	20	44469738	44469738	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	13	3	.	.	ENST00000491381.1:c.908G>T	p.Arg303Leu	p.R303L	ENST00000491381		303	cGg/cTg	0	1	1	UPI0000135B51	0	NA	ENST00000491381		ENSG00000124104	16154		16	0.895		HGNC	p.R303L		SNX21		SNV							ENST00000491381	protein_coding	getma.org/?cm=var&var=hg19,20,44469738,G,T&fts=all		hmmpanther:PTHR20939,hmmpanther:PTHR20939:SF10,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		R/L		T	low	976/1607		getma.org/?cm=msa&ty=f&p=SNX21_HUMAN&rb=243&re=373&var=R303L	tolerated(0.25)	Q8WY78_HUMAN,Q5JZH3_HUMAN			YES	SNX21,missense_variant,p.Arg294Leu,ENST00000372542,;SNX21,missense_variant,p.Arg303Leu,ENST00000491381,;SNX21,3_prime_UTR_variant,,ENST00000462307,NM_001042633.1;SNX21,intron_variant,,ENST00000342644,NM_152897.1,NM_033421.2,NM_001042632.1;ACOT8,downstream_gene_variant,,ENST00000217455,NM_005469.3;SNX21,downstream_gene_variant,,ENST00000372541,;ACOT8,downstream_gene_variant,,ENST00000487205,;SNX21,non_coding_transcript_exon_variant,,ENST00000344780,;SNX21,non_coding_transcript_exon_variant,,ENST00000472219,;SNX21,non_coding_transcript_exon_variant,,ENST00000478230,;SNX21,downstream_gene_variant,,ENST00000465997,;SNX21,non_coding_transcript_exon_variant,,ENST00000372547,;ACOT8,downstream_gene_variant,,ENST00000484975,;ACOT8,downstream_gene_variant,,ENST00000493118,;ACOT8,downstream_gene_variant,,ENST00000484783,;ACOT8,downstream_gene_variant,,ENST00000461272,;ACOT8,downstream_gene_variant,,ENST00000483141,;ACOT8,downstream_gene_variant,,ENST00000488679,;ACOT8,downstream_gene_variant,,ENST00000486165,;SNX21,downstream_gene_variant,,ENST00000486336,;							MODERATE	908/1122	R303L	SNX21_HUMAN			Transcript		benign(0.023)	.	ENSP00000418593		CCDS13377.1			1	
ZNF597	0	LGGM	GRCh37	16	3490870	3490870	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	23	3	.	.	ENST00000301744.4:c.97C>A	p.Pro33Thr	p.P33T	ENST00000301744	NM_152457.1	33	Cct/Act	0	1	1	UPI0000070B73	0	NA	ENST00000301744		ENSG00000167981	26573		26	2.275		HGNC	p.P33T		ZNF597		SNV							ENST00000301744	protein_coding	getma.org/?cm=var&var=hg19,16,3490870,G,T&fts=all		hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF50,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		P/T		T	medium	333/1831		getma.org/?cm=msa&ty=f&p=ZN597_HUMAN&rb=14&re=54&var=P33T	deleterious(0)				YES	ZNF597,missense_variant,p.Pro33Thr,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,;							MODERATE	97/1275	P33T	ZN597_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000301744		CCDS10505.1			1	
PPP6R3	0	LGGM	GRCh37	11	68377442	68377442	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000393801.3:c.2539G>T	p.Glu847Ter	p.E847*	ENST00000393801	NM_001164160.1	847	Gag/Tag	0	1		UPI00001FADF3	0	NA	ENST00000393800		ENSG00000110075	1173		24	0		HGNC	p.E835X		PPP6R3		SNV							ENST00000524904	protein_coding	getma.org/?cm=var&var=hg19,11,68377442,G,T&fts=all		hmmpanther:PTHR12634:SF12,hmmpanther:PTHR12634		E/*		T	NA	2775/5093		NA		Q9H880_HUMAN,E9PNN8_HUMAN,E9PKG4_HUMAN,E9PK08_HUMAN,E9PJD8_HUMAN				PPP6R3,stop_gained,p.Glu847Ter,ENST00000393799,;PPP6R3,stop_gained,p.Glu841Ter,ENST00000393800,NM_001164161.1,NM_001164163.1,NM_001164162.1;PPP6R3,stop_gained,p.Glu847Ter,ENST00000393801,NM_001164160.1;PPP6R3,stop_gained,p.Glu806Ter,ENST00000527403,;PPP6R3,stop_gained,p.Glu761Ter,ENST00000265636,NM_018312.4;PPP6R3,stop_gained,p.Glu795Ter,ENST00000265637,;PPP6R3,stop_gained,p.Glu835Ter,ENST00000524904,;PPP6R3,stop_gained,p.Glu761Ter,ENST00000529710,NM_001164164.1;PPP6R3,stop_gained,p.Glu609Ter,ENST00000534534,;PPP6R3,stop_gained,p.Glu812Ter,ENST00000524845,;PPP6R3,stop_gained,p.Glu548Ter,ENST00000534190,;PPP6R3,stop_gained,p.Glu9Ter,ENST00000530734,;CTD-2007L18.5,downstream_gene_variant,,ENST00000565199,;PPP6R3,3_prime_UTR_variant,,ENST00000526593,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000526307,;PPP6R3,non_coding_transcript_exon_variant,,ENST00000525152,;							HIGH	2521/2622	E841*	PP6R3_HUMAN			Transcript			.	ENSP00000377389		CCDS53672.1			1	
SLC4A5	0	LGGM	GRCh37	2	74466540	74466540	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	3	.	.	ENST00000377634.4:c.2241C>A	p.Ser747=	p.S747=	ENST00000377634		747	tcC/tcA	0	1		UPI000007386D	0		ENST00000346834		ENSG00000188687	18168		32			HGNC	p.S747S		SLC4A5		SNV							ENST00000425249	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955		S		T		2639/6104				Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,synonymous_variant,p.=,ENST00000394019,NM_133478.2;SLC4A5,synonymous_variant,p.=,ENST00000423644,;SLC4A5,synonymous_variant,p.=,ENST00000346834,;SLC4A5,synonymous_variant,p.=,ENST00000359484,;SLC4A5,synonymous_variant,p.=,ENST00000377634,;SLC4A5,synonymous_variant,p.=,ENST00000357822,NM_021196.3;SLC4A5,synonymous_variant,p.=,ENST00000358683,;SLC4A5,synonymous_variant,p.=,ENST00000377632,;SLC4A5,synonymous_variant,p.=,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;							LOW	2241/3123		S4A5_HUMAN			Transcript			.	ENSP00000251768					1	
FNIP2	0	LGGM	GRCh37	4	159812603	159812603	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	27	3	.	.	ENST00000264433.6:c.2955A>G	p.Pro985=	p.P985=	ENST00000264433	NM_020840.1	985	ccA/ccG	0	1	1	UPI00001C1E0A	0		ENST00000264433		ENSG00000052795	29280		30			HGNC	p.P985P		FNIP2		SNV							ENST00000264433	protein_coding			hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11,Pfam_domain:PF14638		P		G		3030/6925							YES	FNIP2,synonymous_variant,p.=,ENST00000264433,NM_020840.1;FNIP2,synonymous_variant,p.=,ENST00000379346,;C4orf45,downstream_gene_variant,,ENST00000434826,NM_152543.2;C4orf45,downstream_gene_variant,,ENST00000508011,;FNIP2,downstream_gene_variant,,ENST00000505130,;							LOW	2955/3345		FNIP2_HUMAN			Transcript			.	ENSP00000264433		CCDS47155.1			1	
CCDC9	0	LGGM	GRCh37	19	47774669	47774669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	17	3	.	.	ENST00000221922.6:c.1330G>A	p.Glu444Lys	p.E444K	ENST00000221922	NM_015603.2	444	Gag/Aag	0	1	1	UPI0000073E41	0	NA	ENST00000221922		ENSG00000105321	24560		20	1.7		HGNC	p.E444K		CCDC9		SNV							ENST00000221922	protein_coding	getma.org/?cm=var&var=hg19,19,47774669,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15635:SF11,hmmpanther:PTHR15635		E/K		A	low	1552/2093		getma.org/?cm=msa&ty=f&p=CCDC9_HUMAN&rb=1&re=530&var=E444K	tolerated(0.14)	M0R2W0_HUMAN,M0QZR0_HUMAN,M0QYB4_HUMAN			YES	CCDC9,missense_variant,p.Glu444Lys,ENST00000221922,NM_015603.2;PRR24,upstream_gene_variant,,ENST00000552360,NM_178511.5;CCDC9,downstream_gene_variant,,ENST00000600117,;							MODERATE	1330/1596	E444K	CCDC9_HUMAN			Transcript		unknown(0)	.	ENSP00000221922		CCDS12698.1			1	
PRPF6	0	LGGM	GRCh37	20	62630471	62630471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	3	.	.	ENST00000266079.4:c.845C>A	p.Pro282Gln	p.P282Q	ENST00000266079	NM_012469.3	282	cCg/cAg	0	1	1	UPI0000132356	0	NA	ENST00000266079		ENSG00000101161	15860		32	2.535		HGNC	p.P282Q		PRPF6		SNV			1				ENST00000266079	protein_coding	getma.org/?cm=var&var=hg19,20,62630471,C,A&fts=all		hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF12		P/Q		A	medium	956/3044		getma.org/?cm=msa&ty=f&p=PRP6_HUMAN&rb=170&re=369&var=P282Q	tolerated(0.31)				YES	PRPF6,missense_variant,p.Pro282Gln,ENST00000266079,NM_012469.3;PRPF6,missense_variant,p.Pro282Gln,ENST00000535781,;ZNF512B,intron_variant,,ENST00000450537,;ZNF512B,intron_variant,,ENST00000217130,;							MODERATE	845/2826	P282Q	PRP6_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000266079		CCDS13550.1			1	
FRMD4A	0	LGGM	GRCh37	10	14050126	14050126	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	11	3	.	.	ENST00000357447.2:c.46-149214C>A		*16*	ENST00000357447	NM_018027.3			0	1	1	UPI0000366665	0		ENST00000357447		ENSG00000151474	25491		14			HGNC	p.P9Q		FRMD4A		SNV							ENST00000342409	protein_coding							T		-/6815				F8WAN4_HUMAN			YES	FRMD4A,missense_variant,p.Pro9Gln,ENST00000342409,;FRMD4A,intron_variant,,ENST00000357447,NM_018027.3;FRMD4A,intron_variant,,ENST00000378503,;RP11-142M10.2,downstream_gene_variant,,ENST00000446193,;							MODIFIER	-/3120		FRM4A_HUMAN			Transcript			.	ENSP00000350032		CCDS7101.1			1	
FHOD3	0	LGGM	GRCh37	18	34340599	34340599	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	41	3	.	.	ENST00000257209.4:c.3929C>A	p.Ala1310Glu	p.A1310E	ENST00000257209	NM_025135.2	1310	gCg/gAg	0	1		UPI0000EE543D	0	NA	ENST00000359247		ENSG00000134775	26178		44	-0.455		HGNC	p.A1272E		FHOD3		SNV							ENST00000445677	protein_coding	getma.org/?cm=var&var=hg19,18,34340599,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213,SMART_domains:SM00498		A/E		A	neutral	3878/4518		getma.org/?cm=msa&ty=f&p=FHOD3_HUMAN&rb=1255&re=1422&var=A1293E	tolerated(0.23)					FHOD3,missense_variant,p.Ala1310Glu,ENST00000257209,NM_025135.2;FHOD3,missense_variant,p.Ala1493Glu,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Ala1272Glu,ENST00000445677,;FHOD3,missense_variant,p.Ala1293Glu,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Ala1071Glu,ENST00000592930,;FHOD3,missense_variant,p.Ala506Glu,ENST00000591635,;FHOD3,missense_variant,p.Ala289Glu,ENST00000592128,;FHOD3,intron_variant,,ENST00000585579,;							MODERATE	3878/4269	A1293E	FHOD3_HUMAN			Transcript		possibly_damaging(0.594)	.	ENSP00000352186		CCDS62419.1			1	
FRMD1	0	LGGM	GRCh37	6	168467481	168467481	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	20	3	.	.	ENST00000283309.6:c.415G>A	p.Ala139Thr	p.A139T	ENST00000283309	NM_024919.3	139	Gcc/Acc	0	1	1	UPI000013F36A	0	NA	ENST00000283309		ENSG00000153303	21240		23	1.06		HGNC	p.A181T		FRMD1		SNV							ENST00000511714	protein_coding	getma.org/?cm=var&var=hg19,6,168467481,C,T&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR13429,hmmpanther:PTHR13429:SF4,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236		A/T		T	low	480/3067		getma.org/?cm=msa&ty=f&p=FRMD1_HUMAN&rb=58&re=147&var=A139T	tolerated(0.49)	F5GXR0_HUMAN			YES	FRMD1,missense_variant,p.Ala139Thr,ENST00000283309,NM_024919.3;FRMD1,missense_variant,p.Ala71Thr,ENST00000440994,NM_001122841.1;FRMD1,missense_variant,p.Ala181Thr,ENST00000511714,;FRMD1,5_prime_UTR_variant,,ENST00000537786,;FRMD1,upstream_gene_variant,,ENST00000432403,;FRMD1,3_prime_UTR_variant,,ENST00000468647,;FRMD1,3_prime_UTR_variant,,ENST00000509157,;FRMD1,non_coding_transcript_exon_variant,,ENST00000358587,;FRMD1,non_coding_transcript_exon_variant,,ENST00000336070,;FRMD1,non_coding_transcript_exon_variant,,ENST00000506415,;							MODERATE	415/1650	A139T	FRMD1_HUMAN			Transcript		benign(0.148)	.	ENSP00000283309		CCDS5306.1			1	
RBM15B	0	LGGM	GRCh37	3	51430416	51430416	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000323686.4:c.1586G>T	p.Arg529Leu	p.R529L	ENST00000323686	NM_013286.4	529	cGg/cTg	0	1	1	UPI0000160BDE	0	NA	ENST00000323686		ENSG00000179837	24303		24	1.79		HGNC	p.R529L		RBM15B		SNV							ENST00000323686	protein_coding	getma.org/?cm=var&var=hg19,3,51430416,G,T&fts=all		hmmpanther:PTHR23189:SF40,hmmpanther:PTHR23189		R/L		T	low	1686/6600		getma.org/?cm=msa&ty=f&p=RB15B_HUMAN&rb=483&re=682&var=R529L	deleterious(0)				YES	RBM15B,missense_variant,p.Arg529Leu,ENST00000323686,NM_013286.4;VPRBP,downstream_gene_variant,,ENST00000423656,;VPRBP,downstream_gene_variant,,ENST00000335891,;MANF,downstream_gene_variant,,ENST00000528157,NM_006010.4;MANF,downstream_gene_variant,,ENST00000470900,;MANF,downstream_gene_variant,,ENST00000446668,;MANF,downstream_gene_variant,,ENST00000482262,;							MODERATE	1586/2673	R529L	RB15B_HUMAN			Transcript		benign(0.155)	.	ENSP00000313890		CCDS33764.1			1	
PXN	0	LGGM	GRCh37	12	120651646	120651646	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000267257.7:c.1550G>T	p.Arg517Leu	p.R517L	ENST00000267257	NM_001243756.1	517	cGg/cTg	0	1		UPI0000E00CD4	0	getma.org/pdb.php?prot=PAXI_HUMAN&from=476&to=531&var=R503L	ENST00000228307		ENSG00000089159	9718		24	1.33		HGNC	p.R517L		PXN		SNV							ENST00000267257	protein_coding	getma.org/?cm=var&var=hg19,12,120651646,C,A&fts=all		Superfamily_domains:SSF57716,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		R/L		A	low	1650/3785		getma.org/?cm=msa&ty=f&p=PAXI_HUMAN&rb=476&re=531&var=R503L	deleterious(0)	F8W1E0_HUMAN,F8W0K8_HUMAN,F8W0G0_HUMAN				PXN,missense_variant,p.Arg315Leu,ENST00000397506,;PXN,missense_variant,p.Arg501Leu,ENST00000536957,;PXN,missense_variant,p.Arg517Leu,ENST00000267257,NM_001243756.1;PXN,missense_variant,p.Arg336Leu,ENST00000458477,NM_025157.4;PXN,missense_variant,p.Arg503Leu,ENST00000228307,NM_001080855.2;PXN,missense_variant,p.Arg469Leu,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,splice_region_variant,,ENST00000538144,;PXN,splice_region_variant,,ENST00000323871,;							MODERATE	1508/1776	R503L	PAXI_HUMAN			Transcript		possibly_damaging(0.623)	.	ENSP00000228307		CCDS44997.1			1	
MARK2	0	LGGM	GRCh37	11	63672461	63672461	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	23	3	.	.	ENST00000402010.2:c.1880G>T	p.Arg627Leu	p.R627L	ENST00000402010	NM_001039469.2	627	cGg/cTg	0	1	1	UPI00004F6F00	0	NA	ENST00000402010		ENSG00000072518	3332		26	2.125		HGNC	p.R627L		MARK2		SNV							ENST00000377809	protein_coding	getma.org/?cm=var&var=hg19,11,63672461,G,T&fts=all		hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF20		R/L		T	medium	2459/4728		getma.org/?cm=msa&ty=f&p=MARK2_HUMAN&rb=505&re=704&var=R627L	deleterious(0)	Q5DNC6_HUMAN,F5H6N2_HUMAN,F5H4F6_HUMAN			YES	MARK2,missense_variant,p.Arg627Leu,ENST00000402010,NM_001039469.2;MARK2,missense_variant,p.Arg627Leu,ENST00000315032,;MARK2,missense_variant,p.Arg627Leu,ENST00000377809,;MARK2,missense_variant,p.Arg573Leu,ENST00000413835,;MARK2,missense_variant,p.Arg539Leu,ENST00000377810,NM_004954.4;MARK2,missense_variant,p.Arg573Leu,ENST00000361128,NM_001163296.1;MARK2,missense_variant,p.Arg572Leu,ENST00000508192,;MARK2,missense_variant,p.Arg572Leu,ENST00000350490,NM_001163297.1;MARK2,missense_variant,p.Arg626Leu,ENST00000502399,;MARK2,missense_variant,p.Arg593Leu,ENST00000509502,NM_017490.3;MARK2,missense_variant,p.Arg594Leu,ENST00000513765,;MARK2,missense_variant,p.Arg539Leu,ENST00000408948,;MARK2,missense_variant,p.Arg547Leu,ENST00000425897,;MARK2,downstream_gene_variant,,ENST00000535116,;							MODERATE	1880/2367	R627L	MARK2_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000385751		CCDS53649.1			1	
VIT	0	LGGM	GRCh37	2	36994391	36994391	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	18	3	.	.	ENST00000379242.3:c.642C>A	p.Pro214=	p.P214=	ENST00000379242	NM_053276.3	214	ccC/ccA	0	1		UPI00000389D9	0		ENST00000389975		ENSG00000205221	12697		21			HGNC	p.P192P		VIT		SNV							ENST00000404084	protein_coding			hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF3,Low_complexity_(Seg):seg		P		A		944/2770				C9J6F5_HUMAN				VIT,synonymous_variant,p.=,ENST00000379242,NM_053276.3;VIT,synonymous_variant,p.=,ENST00000389975,NM_001177970.1,NM_001177969.1;VIT,synonymous_variant,p.=,ENST00000379241,NM_001177971.1;VIT,synonymous_variant,p.=,ENST00000404084,;VIT,synonymous_variant,p.=,ENST00000401530,;VIT,5_prime_UTR_variant,,ENST00000497382,;							LOW	642/2037		VITRN_HUMAN			Transcript			.	ENSP00000374625		CCDS54347.1			1	
ABCG2	0	LGGM	GRCh37	4	89061097	89061097	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	28	3	.	.	ENST00000237612.3:c.51C>A	p.Thr17=	p.T17=	ENST00000237612	NM_004827.2	17	acC/acA	0	1	1	UPI0000001275	0		ENST00000237612		ENSG00000118777	74		31			HGNC	p.T35T		ABCG2		SNV			1				ENST00000503830	protein_coding			hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241		T		T		597/4479				F8S0F2_HUMAN			YES	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,;							LOW	51/1968		ABCG2_HUMAN			Transcript			.	ENSP00000237612		CCDS3628.1			1	
GCN1L1	0	LGGM	GRCh37	12	120568546	120568546	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	3	.	.	ENST00000300648.6:c.7575G>T	p.Ala2525=	p.A2525=	ENST00000300648	NM_006836.1	2525	gcG/gcT	0	1	1	UPI00001FBC69	0		ENST00000300648		ENSG00000089154	4199		36			HGNC	p.A2525A		GCN1L1		SNV							ENST00000300648	protein_coding			Superfamily_domains:SSF48371,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		A		A		7588/8675				B4DM32_HUMAN			YES	GCN1L1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;GCN1L1,downstream_gene_variant,,ENST00000549815,;							LOW	7575/8016		GCN1L_HUMAN			Transcript			.	ENSP00000300648		CCDS41847.1			1	
ITPR2	0	LGGM	GRCh37	12	26749977	26749977	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	43	3	.	.	ENST00000381340.3:c.4093C>A	p.Arg1365=	p.R1365=	ENST00000381340	NM_002223.2	1365	Cga/Aga	0	1	1	UPI00001FB7D2	0		ENST00000381340		ENSG00000123104	6181		46			HGNC	p.R1365R		ITPR2		SNV							ENST00000381340	protein_coding			hmmpanther:PTHR13715		R		T		4510/10511				I1VE21_HUMAN			YES	ITPR2,synonymous_variant,p.=,ENST00000381340,NM_002223.2;							LOW	4093/8106		ITPR2_HUMAN			Transcript			.	ENSP00000370744		CCDS41764.1			1	
DDX43	0	LGGM	GRCh37	6	74115462	74115462	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	24	3	.	.	ENST00000370336.4:c.711C>A	p.Pro237=	p.P237=	ENST00000370336	NM_018665.2	237	ccC/ccA	0	1	1	UPI000013CA60	0		ENST00000370336		ENSG00000080007	18677		27			HGNC	p.P237P		DDX43		SNV							ENST00000370336	protein_coding			Gene3D:3.40.50.300,hmmpanther:PTHR24031:SF225,hmmpanther:PTHR24031		P		A		869/2513							YES	DDX43,synonymous_variant,p.=,ENST00000370336,NM_018665.2;DDX43,3_prime_UTR_variant,,ENST00000539829,;DDX43,upstream_gene_variant,,ENST00000479773,;							LOW	711/1947		DDX43_HUMAN			Transcript			.	ENSP00000359361		CCDS4977.1			1	
ABLIM3	0	LGGM	GRCh37	5	148619424	148619424	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	3	.	.	ENST00000506113.1:c.1177C>A	p.Arg393Ser	p.R393S	ENST00000506113		393	Cgc/Agc	0	1		UPI0000071FF7	0	NA	ENST00000309868		ENSG00000173210	29132		47	1.725		HGNC	p.R331S		ABLIM3		SNV							ENST00000356541	protein_coding	getma.org/?cm=var&var=hg19,5,148619424,C,A&fts=all		hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF0		R/S		A	low	1416/4326		getma.org/?cm=msa&ty=f&p=ABLM3_HUMAN&rb=268&re=467&var=R393S	deleterious(0.02)					ABLIM3,missense_variant,p.Arg393Ser,ENST00000506113,;ABLIM3,missense_variant,p.Arg393Ser,ENST00000309868,NM_014945.2;ABLIM3,missense_variant,p.Arg331Ser,ENST00000326685,;ABLIM3,missense_variant,p.Arg331Ser,ENST00000504238,;ABLIM3,missense_variant,p.Arg393Ser,ENST00000508983,;ABLIM3,missense_variant,p.Arg331Ser,ENST00000356541,;ABLIM3,upstream_gene_variant,,ENST00000517451,;AC012613.2,intron_variant,,ENST00000523176,;RP11-331K21.1,intron_variant,,ENST00000512647,;RP11-331K21.1,intron_variant,,ENST00000522685,;ABLIM3,non_coding_transcript_exon_variant,,ENST00000519549,;ABLIM3,3_prime_UTR_variant,,ENST00000515171,;ABLIM3,non_coding_transcript_exon_variant,,ENST00000514212,;							MODERATE	1177/2052	R393S	ABLM3_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000310309		CCDS4294.1			1	
CD163	0	LGGM	GRCh37	12	7649422	7649422	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	41	3	.	.	ENST00000359156.4:c.1086C>A	p.Gly362=	p.G362=	ENST00000359156	NM_004244.5	362	ggC/ggA	0	1	1	UPI00004565CC	0		ENST00000359156		ENSG00000177575	1631		44			HGNC	p.G362G		CD163		SNV							ENST00000432237	protein_coding			PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF268,hmmpanther:PTHR19331,Pfam_domain:PF00530,Gene3D:3.10.250.10,SMART_domains:SM00202,Superfamily_domains:SSF56487		G		T		1289/4268							YES	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,non_coding_transcript_exon_variant,,ENST00000537044,;							LOW	1086/3471		C163A_HUMAN			Transcript			.	ENSP00000352071		CCDS8578.1			1	
DVL3	0	LGGM	GRCh37	3	183883233	183883233	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	19	3	.	.	ENST00000313143.3:c.717G>T	p.Thr239=	p.T239=	ENST00000313143	NM_004423.3	239	acG/acT	0	1	1	UPI00001299A9	0		ENST00000313143		ENSG00000161202	3087		22			HGNC	p.T239T		DVL3		SNV							ENST00000431765	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10878:SF6,hmmpanther:PTHR10878,Gene3D:2.30.42.10,Superfamily_domains:SSF50156		T		T		965/5254				Q8WVA8_HUMAN,C9K0P9_HUMAN			YES	DVL3,synonymous_variant,p.=,ENST00000313143,NM_004423.3;DVL3,synonymous_variant,p.=,ENST00000431765,;DVL3,synonymous_variant,p.=,ENST00000423300,;EIF2B5,intron_variant,,ENST00000444495,;DVL3,downstream_gene_variant,,ENST00000462665,;DVL3,non_coding_transcript_exon_variant,,ENST00000478247,;DVL3,non_coding_transcript_exon_variant,,ENST00000467873,;DVL3,downstream_gene_variant,,ENST00000435708,;DVL3,upstream_gene_variant,,ENST00000478639,;							LOW	717/2151		DVL3_HUMAN			Transcript			.	ENSP00000316054		CCDS3253.1			1	
TARBP1	0	LGGM	GRCh37	1	234527422	234527422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	3	.	.	ENST00000040877.1:c.4767G>T	p.Gln1589His	p.Q1589H	ENST00000040877	NM_005646.3	1589	caG/caT	0	1	1	UPI000006DB0F	0	getma.org/pdb.php?prot=TARB1_HUMAN&from=1463&to=1606&var=Q1589H	ENST00000040877		ENSG00000059588	11568		32	0.895		HGNC	p.Q1589H	COSM905759	TARBP1		SNV						1	ENST00000040877	protein_coding	getma.org/?cm=var&var=hg19,1,234527422,C,A&fts=all		Gene3D:3.40.1280.10,Pfam_domain:PF00588,PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11,Superfamily_domains:SSF75217		Q/H		A	low	4767/5130		getma.org/?cm=msa&ty=f&p=TARB1_HUMAN&rb=1463&re=1606&var=Q1589H	deleterious(0.04)				YES	TARBP1,missense_variant,p.Gln1589His,ENST00000040877,NM_005646.3;TARBP1,non_coding_transcript_exon_variant,,ENST00000483404,;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,;TARBP1,non_coding_transcript_exon_variant,,ENST00000471918,;					1		MODERATE	4767/4866	Q1589H	TARB1_HUMAN			Transcript		benign(0.009)	.	ENSP00000040877		CCDS1601.1			1	
TP53	0	LGGM	GRCh37	17	7578268	7578268	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	21	3	.	.	ENST00000269305.4:c.581T>G	p.Leu194Arg	p.L194R	ENST00000269305	NM_001126112.2	194	cTt/cGt	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		24			HGNC	p.L194R	TP53_g.12650T>G,COSM44571,COSM117650,COSM117647,COSM117648,COSM3403268,COSM1649391,COSM117649	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding			Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		L/R		C		771/2579			deleterious(0)	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			YES	TP53,missense_variant,p.Leu194Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Leu194Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Leu194Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Leu194Arg,ENST00000445888,;TP53,missense_variant,p.Leu194Arg,ENST00000359597,;TP53,missense_variant,p.Leu194Arg,ENST00000413465,;TP53,missense_variant,p.Leu62Arg,ENST00000509690,;TP53,missense_variant,p.Leu101Arg,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,;					0,1,1,1,1,1,1,1		MODERATE	581/1182		P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
VCPIP1	0	LGGM	GRCh37	8	67578873	67578873	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	39	3	.	.	ENST00000310421.4:c.321G>T	p.Thr107=	p.T107=	ENST00000310421	NM_025054.4	107	acG/acT	0	1	1	UPI00001D3EF3	0		ENST00000310421		ENSG00000175073	30897		42			HGNC	p.T107T		VCPIP1		SNV							ENST00000310421	protein_coding			hmmpanther:PTHR14843,hmmpanther:PTHR14843:SF1		T		A		580/9942							YES	VCPIP1,synonymous_variant,p.=,ENST00000310421,NM_025054.4;C8orf44-SGK3,upstream_gene_variant,,ENST00000519289,NM_001204173.1;C8orf44,upstream_gene_variant,,ENST00000519561,NM_019607.2;C8orf44,upstream_gene_variant,,ENST00000521889,;C8orf44-SGK3,upstream_gene_variant,,ENST00000520044,;C8orf44,upstream_gene_variant,,ENST00000521113,;							LOW	321/3669		VCIP1_HUMAN			Transcript			.	ENSP00000309031		CCDS6192.1			1	
GDF2	0	LGGM	GRCh37	10	48414508	48414508	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	15	3	.	.	ENST00000249598.1:c.360A>T	p.Ile120=	p.I120=	ENST00000249598	NM_016204.1	120	atA/atT	0	1	1	UPI000012B394	0		ENST00000249598		ENSG00000128802	4217		18			HGNC	p.I120I		GDF2		SNV							ENST00000249598	protein_coding			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Pfam_domain:PF00688		I		A		520/1936							YES	GDF2,synonymous_variant,p.=,ENST00000249598,NM_016204.1;							LOW	360/1290		GDF2_HUMAN			Transcript			.	ENSP00000249598		CCDS7219.1			1	
PCDHB5	0	LGGM	GRCh37	5	140516762	140516762	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	28	3	.	.	ENST00000231134.5:c.1746C>A	p.Gly582=	p.G582=	ENST00000231134	NM_015669.2	582	ggC/ggA	0	1	1	UPI00001273E1	0		ENST00000231134		ENSG00000113209	8690		31			HGNC	p.G582G		PCDHB5		SNV							ENST00000231134	protein_coding			Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		G		A		1963/2904							YES	PCDHB5,synonymous_variant,p.=,ENST00000231134,NM_015669.2;							LOW	1746/2388		PCDB5_HUMAN			Transcript			.	ENSP00000231134		CCDS4247.1			1	
GPR64	0	LGGM	GRCh37	X	19013020	19013020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	4	.	.	ENST00000379869.3:c.2863G>T	p.Gly955Trp	p.G955W	ENST00000379869	NM_001079858.2	955	Ggg/Tgg	0	1	1	UPI000021246C	0	NA	ENST00000379869		ENSG00000173698	4516		33	1.355		HGNC	p.G939W		GPR64		SNV							ENST00000354791	protein_coding	getma.org/?cm=var&var=hg19,X,19013020,C,A&fts=all		hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011		G/W		A	low	3027/4768		getma.org/?cm=msa&ty=f&p=GPR64_HUMAN&rb=876&re=1017&var=G955W	deleterious(0)				YES	GPR64,missense_variant,p.Gly939Trp,ENST00000354791,;GPR64,missense_variant,p.Gly939Trp,ENST00000379878,NM_001184833.1;GPR64,missense_variant,p.Gly931Trp,ENST00000379876,NM_001184836.1,NM_001184835.1;GPR64,missense_variant,p.Gly955Trp,ENST00000379869,NM_001079858.2,NM_005756.3;GPR64,missense_variant,p.Gly933Trp,ENST00000360279,NM_001079860.2;GPR64,missense_variant,p.Gly925Trp,ENST00000357544,NM_001184837.1;GPR64,missense_variant,p.Gly952Trp,ENST00000357991,;GPR64,missense_variant,p.Gly941Trp,ENST00000356606,NM_001079859.2;GPR64,missense_variant,p.Gly836Trp,ENST00000340581,;GPR64,intron_variant,,ENST00000379873,NM_001184834.1;							MODERATE	2863/3054	G955W	GPR64_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000369198		CCDS43923.1			1	
SF3B3	0	LGGM	GRCh37	16	70588953	70588953	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	57	4	.	.	ENST00000302516.5:c.1555-1G>T		p.X519_splice	ENST00000302516	NM_012426.4			0	1	1	UPI0000167878	0		ENST00000302516		ENSG00000189091	10770		61			HGNC	-		SF3B3		SNV							ENST00000302516	protein_coding							T		-/6969				J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN			YES	SF3B3,splice_acceptor_variant,,ENST00000302516,NM_012426.4;SF3B3,splice_acceptor_variant,,ENST00000567250,;SF3B3,splice_acceptor_variant,,ENST00000568291,;SF3B3,splice_acceptor_variant,,ENST00000567635,;							HIGH	1555/3654		SF3B3_HUMAN			Transcript			.	ENSP00000305790		CCDS10894.1			1	
CCDC74B	0	LGGM	GRCh37	2	130900197	130900197	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	5	4	.	.	ENST00000310463.6:c.296-243G>T		*99*	ENST00000310463	NM_207310.2			0	1	1	UPI000006D822	0		ENST00000310463		ENSG00000152076	25267		9			HGNC	p.G120V		CCDC74B		SNV							ENST00000392984	protein_coding							A		-/1549							YES	CCDC74B,missense_variant,p.Gly120Val,ENST00000392984,;CCDC74B,intron_variant,,ENST00000310463,NM_207310.2;CCDC74B,intron_variant,,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,intron_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000409234,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,intron_variant,,ENST00000423263,;CCDC74B,intron_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;MED15P9,downstream_gene_variant,,ENST00000424716,;							MODIFIER	-/1143		CC74B_HUMAN			Transcript			.	ENSP00000308873		CCDS2155.1			1	
ENPEP	0	LGGM	GRCh37	4	111482595	111482595	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	39	4	.	.	ENST00000265162.5:c.2755G>T	p.Gly919Ter	p.G919*	ENST00000265162	NM_001977.3	919	Gga/Tga	0	1	1	UPI000013D5C6	0	NA	ENST00000265162		ENSG00000138792	3355		43	0		HGNC	p.G919X	COSM731969	ENPEP		SNV						1	ENST00000265162	protein_coding	getma.org/?cm=var&var=hg19,4,111482595,G,T&fts=all		hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165		G/*		T	NA	3097/6943		NA					YES	ENPEP,stop_gained,p.Gly919Ter,ENST00000265162,NM_001977.3;ENPEP,non_coding_transcript_exon_variant,,ENST00000504100,;					1		HIGH	2755/2874	G919*	AMPE_HUMAN			Transcript			.	ENSP00000265162		CCDS3691.1			1	
ATP13A4	0	LGGM	GRCh37	3	193220326	193220326	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	61	4	.	.	ENST00000342695.4:c.337G>T	p.Glu113Ter	p.E113*	ENST00000342695	NM_032279.2	113	Gag/Tag	0	1	1	UPI0000520D50	0	NA	ENST00000342695		ENSG00000127249	25422		65	0		HGNC	p.E113X		ATP13A4		SNV							ENST00000342695	protein_coding	getma.org/?cm=var&var=hg19,3,193220326,C,A&fts=all		hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12409,TIGRFAM_domain:TIGR01657		E/*		A	NA	660/4208		NA					YES	ATP13A4,stop_gained,p.Glu113Ter,ENST00000342695,NM_032279.2;ATP13A4,stop_gained,p.Glu113Ter,ENST00000392443,;ATP13A4,stop_gained,p.Glu113Ter,ENST00000295548,;ATP13A4,downstream_gene_variant,,ENST00000489140,;ATP13A4,missense_variant,p.Met79Ile,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;							HIGH	337/3591	E113*	AT134_HUMAN			Transcript			.	ENSP00000339182		CCDS3304.2			1	
TMEM87A	0	LGGM	GRCh37	15	42520934	42520934	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	4	.	.	ENST00000389834.4:c.1216A>T	p.Asn406Tyr	p.N406Y	ENST00000389834	NM_015497.3	406	Aac/Tac	0	1	1	UPI0000073A7E	0	NA	ENST00000389834		ENSG00000103978	24522		37	2.535		HGNC	p.N345Y		TMEM87A		SNV							ENST00000448392	protein_coding	getma.org/?cm=var&var=hg19,15,42520934,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF10,Pfam_domain:PF06814		N/Y		A	medium	1481/3109		getma.org/?cm=msa&ty=f&p=TM87A_HUMAN&rb=178&re=467&var=N406Y	deleterious(0)	H3BPJ4_HUMAN,H3BMU0_HUMAN,H3BM87_HUMAN			YES	TMEM87A,missense_variant,p.Asn406Tyr,ENST00000389834,NM_015497.3;TMEM87A,missense_variant,p.Asn345Tyr,ENST00000448392,NM_001286487.1;TMEM87A,missense_variant,p.Asn133Tyr,ENST00000566014,;RP11-546B15.1,downstream_gene_variant,,ENST00000563846,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000562946,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000564329,;TMEM87A,downstream_gene_variant,,ENST00000569075,;							MODERATE	1216/1668	N406Y	TM87A_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000374484		CCDS32205.1			1	
CAT	0	LGGM	GRCh37	11	34482935	34482935	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	35	4	.	.	ENST00000241052.4:c.1194G>T	p.Gln398His	p.Q398H	ENST00000241052	NM_001752.3	398	caG/caT	0	1	1	UPI000002F090	0	getma.org/pdb.php?prot=CATA_HUMAN&from=28&to=413&var=Q398H	ENST00000241052		ENSG00000121691	1516		39	1.195		HGNC	p.Q398H		CAT		SNV			1				ENST00000241052	protein_coding	getma.org/?cm=var&var=hg19,11,34482935,G,T&fts=all		Superfamily_domains:SSF56634,SMART_domains:SM01060,PIRSF_domain:PIRSF038928,Pfam_domain:PF00199,hmmpanther:PTHR11465,PROSITE_profiles:PS51402		Q/H		T	low	1283/2302		getma.org/?cm=msa&ty=f&p=CATA_HUMAN&rb=28&re=413&var=Q398H	tolerated(0.22)	Q8TAK2_HUMAN			YES	CAT,missense_variant,p.Gln398His,ENST00000241052,NM_001752.3;CAT,splice_region_variant,,ENST00000530343,;CAT,splice_region_variant,,ENST00000525707,;CAT,downstream_gene_variant,,ENST00000528104,;							MODERATE	1194/1584	Q398H	CATA_HUMAN			Transcript		benign(0.049)	.	ENSP00000241052		CCDS7891.1			1	
DLG5	0	LGGM	GRCh37	10	79616501	79616501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	8	4	.	.	ENST00000372391.2:c.523G>T	p.Ala175Ser	p.A175S	ENST00000372391	NM_004747.3	175	Gcc/Tcc	0	1	1	UPI0000470041	0	NA	ENST00000372391		ENSG00000151208	2904		12	-0.345		HGNC	p.A175S	rs763746805	DLG5	6.20E-05	SNV				0.000293			ENST00000372391	protein_coding	getma.org/?cm=var&var=hg19,10,79616501,C,A&fts=all		Pfam_domain:PF04822		A/S		A	neutral	529/7415	0.000152	getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=127&re=214&var=A175S	tolerated(0.06)				YES	DLG5,missense_variant,p.Ala175Ser,ENST00000372391,NM_004747.3;DLG5,missense_variant,p.Ala175Ser,ENST00000372388,;DLG5,missense_variant,p.Ala100Ser,ENST00000468332,;DLG5,intron_variant,,ENST00000475613,;							MODERATE	523/5760	A175S	DLG5_HUMAN	0.000471		Transcript		benign(0.038)	common_variant	ENSP00000361467	0.000214	CCDS7353.2	0.00113		1	
MCC	0	LGGM	GRCh37	5	112437557	112437557	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	60	4	.	.	ENST00000408903.3:c.1277C>A	p.Ala426Asp	p.A426D	ENST00000408903	NM_001085377.1	426	gCt/gAt	0	1		UPI000013E7E1	0	NA	ENST00000302475		ENSG00000171444	6935		64	0.55		HGNC	p.A236D		MCC		SNV							ENST00000302475	protein_coding	getma.org/?cm=var&var=hg19,5,112437557,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23347:SF4,hmmpanther:PTHR23347,Pfam_domain:PF10506		A/D		T	neutral	1271/8257		getma.org/?cm=msa&ty=f&p=CRCM_HUMAN&rb=233&re=289&var=A236D	deleterious(0.04)	D6REY2_HUMAN				MCC,missense_variant,p.Ala236Asp,ENST00000302475,NM_002387.2;MCC,missense_variant,p.Ala173Asp,ENST00000515367,;MCC,missense_variant,p.Ala426Asp,ENST00000408903,NM_001085377.1;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;MCC,non_coding_transcript_exon_variant,,ENST00000506605,;MCC,non_coding_transcript_exon_variant,,ENST00000511847,;MCC,non_coding_transcript_exon_variant,,ENST00000505604,;MCC,non_coding_transcript_exon_variant,,ENST00000502648,;							MODERATE	707/2490	A236D	CRCM_HUMAN			Transcript		benign(0.343)	.	ENSP00000305617		CCDS4111.1			1	
MAP1B	0	LGGM	GRCh37	5	71494506	71494506	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	46	4	.	.	ENST00000296755.7:c.5324G>T	p.Gly1775Val	p.G1775V	ENST00000296755	NM_005909.3	1775	gGa/gTa	0	1	1	UPI000013E382	0	NA	ENST00000296755		ENSG00000131711	6836		50	0.695		HGNC	p.G1775V		MAP1B		SNV							ENST00000296755	protein_coding	getma.org/?cm=var&var=hg19,5,71494506,G,T&fts=all		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		G/V		T	neutral	5622/12034		getma.org/?cm=msa&ty=f&p=MAP1B_HUMAN&rb=952&re=1864&var=G1775V		D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,missense_variant,p.Gly1775Val,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							MODERATE	5324/7407	G1775V	MAP1B_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000296755		CCDS4012.1			1	
POLH	0	LGGM	GRCh37	6	43581690	43581690	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	54	4	.	.	ENST00000372236.4:c.1538C>A	p.Pro513Gln	p.P513Q	ENST00000372236	NM_006502.2	513	cCa/cAa	0	1	1	UPI000006F8FD	0	NA	ENST00000372236		ENSG00000170734	9181		58	1.59		HGNC	p.P513Q		POLH		SNV			1				ENST00000372236	protein_coding	getma.org/?cm=var&var=hg19,6,43581690,C,A&fts=all		hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,PIRSF_domain:PIRSF036603		P/Q		A	low	1833/3540		getma.org/?cm=msa&ty=f&p=POLH_HUMAN&rb=420&re=619&var=P513Q	tolerated(0.1)	Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN			YES	POLH,missense_variant,p.Pro513Gln,ENST00000372236,NM_006502.2;POLH,missense_variant,p.Pro451Gln,ENST00000535400,;POLH,3_prime_UTR_variant,,ENST00000372226,;GTPBP2,intron_variant,,ENST00000496137,;							MODERATE	1538/2142	P513Q	POLH_HUMAN			Transcript		benign(0.372)	.	ENSP00000361310		CCDS4902.1			1	
CDYL2	0	LGGM	GRCh37	16	80646532	80646532	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	15	4	.	.	ENST00000570137.2:c.1209C>T	p.Gly403=	p.G403=	ENST00000570137	NM_152342.2	403	ggC/ggT	0	1	1	UPI00001B2954	0		ENST00000570137		ENSG00000166446	23030	0.000173	19			HGNC	p.G404G	rs764460104	CDYL2		SNV							ENST00000563890	protein_coding			Gene3D:3.90.226.10,Pfam_domain:PF00378,hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF52,Superfamily_domains:SSF52096		G		A		1365/8159	3.05E-05						YES	CDYL2,synonymous_variant,p.=,ENST00000570137,NM_152342.2;CDYL2,synonymous_variant,p.=,ENST00000562812,;CDYL2,synonymous_variant,p.=,ENST00000563890,;CDYL2,synonymous_variant,p.=,ENST00000566173,;CDYL2,downstream_gene_variant,,ENST00000561616,;							LOW	1209/1521		CDYL2_HUMAN			Transcript			.	ENSP00000476295	3.29E-05	CCDS32493.1			1	
PCDHGB2	0	LGGM	GRCh37	5	140740981	140740981	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	75	4	.	.	ENST00000522605.1:c.1279G>T	p.Gly427Trp	p.G427W	ENST00000522605	NM_018923.2	427	Ggg/Tgg	0	1	1	UPI000006EE67	0	getma.org/pdb.php?prot=PCDGE_HUMAN&from=352&to=443&var=G427W	ENST00000522605		ENSG00000253910	8709		79	2.57		HGNC	p.G427W		PCDHGB2		SNV							ENST00000522605	protein_coding	getma.org/?cm=var&var=hg19,5,140740981,G,T&fts=all		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		G/W		T	medium	1279/4602		getma.org/?cm=msa&ty=f&p=PCDGE_HUMAN&rb=352&re=443&var=G427W	deleterious(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB2,missense_variant,p.Gly427Trp,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;							MODERATE	1279/2796	G427W	PCDGE_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000429018		CCDS54924.1			1	
FRMPD2	0	LGGM	GRCh37	10	49393610	49393610	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	40	4	.	.	ENST00000374201.3:c.2345C>A	p.Pro782Gln	p.P782Q	ENST00000374201	NM_001018071.3	782	cCa/cAa	0	1	1	UPI0000D60F5F	0	getma.org/pdb.php?prot=FRPD2_HUMAN&from=775&to=858&var=P782Q	ENST00000374201		ENSG00000170324	28572		44	1.495		HGNC	p.P757Q		FRMPD2		SNV							ENST00000305531	protein_coding	getma.org/?cm=var&var=hg19,10,49393610,G,T&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,Pfam_domain:PF00595,Gene3D:2.30.42.10,Superfamily_domains:SSF50156		P/Q		T	low	2648/4997		getma.org/?cm=msa&ty=f&p=FRPD2_HUMAN&rb=775&re=858&var=P782Q	deleterious(0.03)				YES	FRMPD2,missense_variant,p.Pro782Gln,ENST00000374201,NM_001018071.3,NM_001042512.2;FRMPD2,missense_variant,p.Pro750Gln,ENST00000407470,;FRMPD2,missense_variant,p.Pro757Gln,ENST00000305531,;FRMPD2,downstream_gene_variant,,ENST00000494505,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000486151,;							MODERATE	2345/3930	P782Q	FRPD2_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000363317		CCDS31195.1			1	
FBXW4	0	LGGM	GRCh37	10	103433419	103433419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	45	4	.	.	ENST00000331272.7:c.368G>T	p.Trp123Leu	p.W123L	ENST00000331272	NM_022039.3	123	tGg/tTg	0	1	1	UPI000012A581	0	NA	ENST00000331272		ENSG00000107829	10847		49	1.1		HGNC	p.W79L		FBXW4		SNV			1				ENST00000431477	protein_coding	getma.org/?cm=var&var=hg19,10,103433419,C,A&fts=all		hmmpanther:PTHR14381		W/L		A	low	987/2483		getma.org/?cm=msa&ty=f&p=FBXW4_HUMAN&rb=75&re=152&var=W123L	deleterious(0.03)				YES	FBXW4,missense_variant,p.Trp123Leu,ENST00000331272,NM_022039.3;FBXW4,non_coding_transcript_exon_variant,,ENST00000457105,;FBXW4,non_coding_transcript_exon_variant,,ENST00000489578,;							MODERATE	368/1239	W123L	FBXW4_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000359149		CCDS31271.1			1	
LECT1	0	LGGM	GRCh37	13	53313210	53313210	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	3	4	.	.	ENST00000377962.3:c.169G>T	p.Gly57Trp	p.G57W	ENST00000377962		57	Ggg/Tgg	0	1	1	UPI000003F666	0	NA	ENST00000377962		ENSG00000136110	17005		7	0.975		HGNC	p.G57W		LECT1		SNV							ENST00000377962	protein_coding	getma.org/?cm=var&var=hg19,13,53313210,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR14064,hmmpanther:PTHR14064:SF6		G/W		A	low	248/1410		getma.org/?cm=msa&ty=f&p=LECT1_HUMAN&rb=1&re=103&var=G57W	deleterious(0)	E9PKI9_HUMAN			YES	LECT1,missense_variant,p.Gly57Trp,ENST00000448904,NM_001011705.1,NM_007015.2;LECT1,missense_variant,p.Gly57Trp,ENST00000377962,;LECT1,5_prime_UTR_variant,,ENST00000431550,;							MODERATE	169/1005	G57W	LECT1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000367198		CCDS9437.1			1	
PRCC	0	LGGM	GRCh37	1	156756666	156756666	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	4	.	.	ENST00000271526.4:c.783G>T	p.Thr261=	p.T261=	ENST00000271526	NM_005973.4	261	acG/acT	0	1	1	UPI000002EFDB	0		ENST00000271526		ENSG00000143294	9343		34			HGNC	p.T261T		PRCC		SNV			1				ENST00000271526	protein_coding			hmmpanther:PTHR13621		T		T		1055/2103							YES	PRCC,synonymous_variant,p.=,ENST00000271526,NM_005973.4;PRCC,synonymous_variant,p.=,ENST00000353233,;PRCC,upstream_gene_variant,,ENST00000454659,;PRCC,upstream_gene_variant,,ENST00000526188,;PRCC,non_coding_transcript_exon_variant,,ENST00000491853,;PRCC,non_coding_transcript_exon_variant,,ENST00000473387,;PRCC,upstream_gene_variant,,ENST00000459707,;							LOW	783/1476		PRCC_HUMAN			Transcript			.	ENSP00000271526		CCDS1157.1			1	
VPS41	0	LGGM	GRCh37	7	38798011	38798011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	43	4	.	.	ENST00000310301.4:c.1493G>T	p.Arg498Leu	p.R498L	ENST00000310301	NM_014396.3	498	cGg/cTg	0	1	1	UPI000000DAB7	0	NA	ENST00000310301		ENSG00000006715	12713		47	-0.85		HGNC	p.R473L		VPS41		SNV							ENST00000395969	protein_coding	getma.org/?cm=var&var=hg19,7,38798011,C,A&fts=all		hmmpanther:PTHR12616,PIRSF_domain:PIRSF028921		R/L		A	neutral	1548/5903		getma.org/?cm=msa&ty=f&p=VPS41_HUMAN&rb=401&re=570&var=R498L	tolerated(0.89)	Q75MS2_HUMAN,C9J2U9_HUMAN			YES	VPS41,missense_variant,p.Arg498Leu,ENST00000310301,NM_014396.3;VPS41,missense_variant,p.Arg473Leu,ENST00000395969,NM_080631.3;VPS41,non_coding_transcript_exon_variant,,ENST00000462429,;							MODERATE	1493/2565	R498L	VPS41_HUMAN			Transcript		benign(0)	.	ENSP00000309457		CCDS5457.1			1	
STK31	0	LGGM	GRCh37	7	23776686	23776686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	37	4	.	.	ENST00000355870.3:c.1006C>A	p.Gln336Lys	p.Q336K	ENST00000355870	NM_031414.4	336	Cag/Aag	0	1	1	UPI0000167B73	0	NA	ENST00000355870		ENSG00000196335	11407		41	1.5		HGNC	p.Q336K		STK31		SNV							ENST00000433467	protein_coding	getma.org/?cm=var&var=hg19,7,23776686,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF0		Q/K		A	low	1125/3326		getma.org/?cm=msa&ty=f&p=STK31_HUMAN&rb=231&re=743&var=Q336K	tolerated(0.58)	Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN			YES	STK31,missense_variant,p.Gln313Lys,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,missense_variant,p.Gln313Lys,ENST00000428484,;STK31,missense_variant,p.Gln336Lys,ENST00000355870,NM_031414.4;STK31,missense_variant,p.Gln336Lys,ENST00000433467,NM_001260505.1;STK31,downstream_gene_variant,,ENST00000456014,;STK31,downstream_gene_variant,,ENST00000422637,;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,intron_variant,,ENST00000529549,;STK31,downstream_gene_variant,,ENST00000528479,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;							MODERATE	1006/3060	Q336K	STK31_HUMAN			Transcript		benign(0.027)	.	ENSP00000348132		CCDS5386.1			1	
WNT3	0	LGGM	GRCh37	17	44845841	44845841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	4	.	.	ENST00000225512.5:c.913C>A	p.His305Asn	p.H305N	ENST00000225512	NM_030753.4	305	Cac/Aac	0	1	1	UPI000003143C	0	getma.org/pdb.php?prot=WNT3_HUMAN&from=44&to=355&var=H305N	ENST00000225512		ENSG00000108379	12782		38	0.16		HGNC	p.H305N		WNT3		SNV			1				ENST00000225512	protein_coding	getma.org/?cm=var&var=hg19,17,44845841,G,T&fts=all		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF82,Pfam_domain:PF00110,SMART_domains:SM00097		H/N		T	neutral	1076/3355		getma.org/?cm=msa&ty=f&p=WNT3_HUMAN&rb=44&re=355&var=H305N	tolerated(0.25)				YES	WNT3,missense_variant,p.His305Asn,ENST00000225512,NM_030753.4;							MODERATE	913/1068	H305N	WNT3_HUMAN			Transcript		benign(0.014)	.	ENSP00000225512		CCDS11505.1			1	
ADH4	0	LGGM	GRCh37	4	100062778	100062778	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	37	4	.	.	ENST00000265512.7:c.176A>G	p.Glu59Gly	p.E59G	ENST00000265512	NM_000670.3	59	gAg/gGg	0	1	1	UPI00001AE8DE	0	getma.org/pdb.php?prot=ADH4_HUMAN&from=34&to=166&var=E59G	ENST00000265512		ENSG00000198099	252		41	-0.06		HGNC	p.E78G		ADH4		SNV							ENST00000423445	protein_coding	getma.org/?cm=var&var=hg19,4,100062778,T,C&fts=all		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF308,SMART_domains:SM00829,Superfamily_domains:SSF50129		E/G		C	neutral	251/1993		getma.org/?cm=msa&ty=f&p=ADH4_HUMAN&rb=34&re=166&var=E59G	tolerated(0.09)				YES	ADH4,missense_variant,p.Glu78Gly,ENST00000508393,;ADH4,missense_variant,p.Glu59Gly,ENST00000265512,NM_000670.3;ADH4,missense_variant,p.Glu78Gly,ENST00000423445,;ADH4,missense_variant,p.Glu78Gly,ENST00000505590,;ADH4,missense_variant,p.Glu78Gly,ENST00000512499,;ADH4,missense_variant,p.Glu59Gly,ENST00000504125,;RP11-696N14.1,intron_variant,,ENST00000500358,;ADH4,intron_variant,,ENST00000503944,;ADH4,downstream_gene_variant,,ENST00000504581,;ADH4,3_prime_UTR_variant,,ENST00000506705,;ADH4,3_prime_UTR_variant,,ENST00000504894,;ADH4,non_coding_transcript_exon_variant,,ENST00000503416,;							MODERATE	176/1143	E59G	ADH4_HUMAN			Transcript		benign(0.145)	.	ENSP00000265512		CCDS34032.1			1	
RPGRIP1L	0	LGGM	GRCh37	16	53690480	53690480	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	54	4	.	.	ENST00000379925.3:c.1603C>A	p.Arg535Ser	p.R535S	ENST00000379925	NM_015272.2	535	Cgt/Agt	0	1	1	UPI000047DAF2	0	NA	ENST00000379925		ENSG00000103494	29168		58	0.895		HGNC	p.R535S	rs149781516	RPGRIP1L	6.06E-05	SNV	A:0.0005		1				ENST00000563746	protein_coding	getma.org/?cm=var&var=hg19,16,53690480,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF4		R/S	A:0.0001	T	low	1654/5297		getma.org/?cm=msa&ty=f&p=FTM_HUMAN&rb=460&re=630&var=R535S	deleterious(0.02)	J3QLR9_HUMAN,I3L2P2_HUMAN,H3BPF5_HUMAN			YES	RPGRIP1L,missense_variant,p.Arg535Ser,ENST00000262135,NM_001127897.1;RPGRIP1L,missense_variant,p.Arg535Ser,ENST00000379925,NM_015272.2;RPGRIP1L,missense_variant,p.Arg535Ser,ENST00000563746,;RPGRIP1L,missense_variant,p.Arg535Ser,ENST00000564374,;RPGRIP1L,non_coding_transcript_exon_variant,,ENST00000565343,;							MODERATE	1603/3948	R535S	FTM_HUMAN			Transcript		benign(0.021)	.	ENSP00000369257	8.24E-06	CCDS32447.1			1	
ARFGEF2	0	LGGM	GRCh37	20	47570224	47570224	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	55	4	.	.	ENST00000371917.4:c.735C>A	p.Pro245=	p.P245=	ENST00000371917	NM_006420.2	245	ccC/ccA	0	1	1	UPI000013D378	0		ENST00000371917		ENSG00000124198	15853		59			HGNC	p.P245P		ARFGEF2		SNV			1				ENST00000371917	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF124		P		A		735/8852				Q59FR3_HUMAN			YES	ARFGEF2,synonymous_variant,p.=,ENST00000371917,NM_006420.2;							LOW	735/5358		BIG2_HUMAN			Transcript			.	ENSP00000360985		CCDS13411.1			1	
GNB2	0	LGGM	GRCh37	7	100275161	100275161	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	4	.	.	ENST00000303210.4:c.308G>T	p.Cys103Phe	p.C103F	ENST00000303210	NM_005273.3	103	tGt/tTt	0	1	1	UPI0000000934	0	getma.org/pdb.php?prot=GBB2_HUMAN&from=88&to=125&var=C103F	ENST00000303210		ENSG00000172354	4398		33	3.54		HGNC	p.C3F		GNB2		SNV							ENST00000419828	protein_coding	getma.org/?cm=var&var=hg19,7,100275161,G,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF002394,Prints_domain:PR00319,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF27,SMART_domains:SM00320,Superfamily_domains:SSF50978		C/F		T	high	790/1878		getma.org/?cm=msa&ty=f&p=GBB2_HUMAN&rb=88&re=125&var=C103F	deleterious(0)	Q6FHM2_HUMAN,E7EP32_HUMAN,C9JZN1_HUMAN,C9JXA5_HUMAN,C9JIS1_HUMAN,B3KPU1_HUMAN			YES	GNB2,missense_variant,p.Cys103Phe,ENST00000303210,NM_005273.3;GNB2,missense_variant,p.Cys103Phe,ENST00000393926,;GNB2,missense_variant,p.Cys103Phe,ENST00000393924,;GNB2,missense_variant,p.Cys59Phe,ENST00000436220,;GNB2,missense_variant,p.Cys59Phe,ENST00000424361,;GNB2,missense_variant,p.Cys3Phe,ENST00000419828,;GNB2,missense_variant,p.Cys3Phe,ENST00000427895,;GNB2,missense_variant,p.Cys103Phe,ENST00000431068,;GNB2,missense_variant,p.Cys103Phe,ENST00000451587,;GNB2,missense_variant,p.Cys103Phe,ENST00000412215,;GIGYF1,downstream_gene_variant,,ENST00000275732,NM_022574.4;GNB2,non_coding_transcript_exon_variant,,ENST00000469287,;GNB2,non_coding_transcript_exon_variant,,ENST00000470354,;GNB2,downstream_gene_variant,,ENST00000480159,;							MODERATE	308/1023	C103F	GBB2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000305260		CCDS5703.1			1	
TENM4	0	LGGM	GRCh37	11	78372496	78372496	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	10	4	.	.	ENST00000278550.7:c.7549A>T	p.Lys2517Ter	p.K2517*	ENST00000278550	NM_001098816.2	2517	Aag/Tag	0	1	1	UPI0000DD8112	0	NA	ENST00000278550		ENSG00000149256	29945		14	0		HGNC	p.K2517X		TENM4		SNV							ENST00000278550	protein_coding	getma.org/?cm=var&var=hg19,11,78372496,T,A&fts=all		hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		K/*		A	NA	8012/14000		NA		G3CAT1_HUMAN			YES	TENM4,stop_gained,p.Lys2517Ter,ENST00000278550,NM_001098816.2;TENM4,intron_variant,,ENST00000530738,;							HIGH	7549/8310	K2517*	TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
TIPARP	0	LGGM	GRCh37	3	156422506	156422506	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	70	4	.	.	ENST00000461166.1:c.1560C>T	p.Gly520=	p.G520=	ENST00000461166	NM_001184717.1	520	ggC/ggT	0	1		UPI000004FA31	0		ENST00000295924		ENSG00000163659	23696		74			HGNC	p.G520G		TIPARP		SNV							ENST00000461166	protein_coding			PROSITE_profiles:PS51059,hmmpanther:PTHR14453:SF13,hmmpanther:PTHR14453,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399		G		T		2056/4109				G5E9W1_HUMAN,C9JXM5_HUMAN				TIPARP,synonymous_variant,p.=,ENST00000461166,NM_001184717.1;TIPARP,synonymous_variant,p.=,ENST00000295924,NM_015508.4;TIPARP,synonymous_variant,p.=,ENST00000542783,NM_001184718.1;TIPARP,synonymous_variant,p.=,ENST00000495891,;TIPARP,synonymous_variant,p.=,ENST00000486483,;TIPARP,synonymous_variant,p.=,ENST00000481853,;TIPARP,downstream_gene_variant,,ENST00000473702,;							LOW	1560/1974		PARPT_HUMAN			Transcript			.	ENSP00000295924		CCDS3177.1			1	
HAP1	0	LGGM	GRCh37	17	39881054	39881054	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	64	4	.	.	ENST00000347901.4:c.1759T>G	p.Tyr587Asp	p.Y587D	ENST00000347901	NM_177977.2	587	Tac/Gac	0	1		UPI00001AEF7E	0	NA	ENST00000310778		ENSG00000173805	4812		68	0.695		HGNC	p.Y570D		HAP1		SNV							ENST00000341193	protein_coding	getma.org/?cm=var&var=hg19,17,39881054,A,C&fts=all		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF14		Y/D		C	neutral	1925/4087		getma.org/?cm=msa&ty=f&p=HAP1_HUMAN&rb=462&re=661&var=Y639D	deleterious(0.04)					HAP1,missense_variant,p.Tyr562Asp,ENST00000393939,;HAP1,missense_variant,p.Tyr639Asp,ENST00000310778,;HAP1,missense_variant,p.Tyr587Asp,ENST00000347901,NM_177977.2;HAP1,missense_variant,p.Tyr570Asp,ENST00000341193,NM_001079870.1,NM_001079871.1;HAP1,missense_variant,p.Tyr94Asp,ENST00000458656,;HAP1,missense_variant,p.Tyr56Asp,ENST00000442364,;JUP,intron_variant,,ENST00000540235,;HAP1,intron_variant,,ENST00000455021,;							MODERATE	1915/2016	Y639D	HAP1_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000309392					1	
IGKV2-24	0	LGGM	GRCh37	2	89475847	89475847	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	42	4	.	.	ENST00000484817.1:c.325G>T	p.Gly109Trp	p.G109W	ENST00000484817		109	Ggg/Tgg	0	1	1	UPI0000115DCF	0		ENST00000484817		ENSG00000241294	5781		46			HGNC	p.G109W		IGKV2-24		SNV							ENST00000484817	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF128,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		G/W		A		355/390			deleterious(0)				YES	IGKV2-24,missense_variant,p.Gly109Trp,ENST00000484817,;IGKV2-23,upstream_gene_variant,,ENST00000518729,;							MODERATE	325/360					Transcript		probably_damaging(0.987)	.	ENSP00000419300					1	
KIAA1199	0	LGGM	GRCh37	15	81188313	81188313	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	4	.	.	ENST00000394685.3:c.1323T>G	p.Ile441Met	p.I441M	ENST00000394685		441	atT/atG	0	1		UPI00001D7799	0	NA	ENST00000220244		ENSG00000103888	29213		38	2.735		HGNC	p.I441M		KIAA1199		SNV							ENST00000356249	protein_coding	getma.org/?cm=var&var=hg19,15,81188313,T,G&fts=all		Superfamily_domains:SSF51126,hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF15		I/M		G	medium	1611/7226		getma.org/?cm=msa&ty=f&p=K1199_HUMAN&rb=406&re=605&var=I441M	deleterious(0.04)					KIAA1199,missense_variant,p.Ile441Met,ENST00000394685,;KIAA1199,missense_variant,p.Ile441Met,ENST00000356249,;KIAA1199,missense_variant,p.Ile441Met,ENST00000220244,NM_018689.1;RP11-351M8.1,downstream_gene_variant,,ENST00000560560,;RP11-351M8.1,downstream_gene_variant,,ENST00000561295,;RP11-351M8.2,downstream_gene_variant,,ENST00000560873,;RP11-351M8.1,downstream_gene_variant,,ENST00000558261,;							MODERATE	1323/4086	I441M	K1199_HUMAN			Transcript		benign(0.221)	.	ENSP00000220244		CCDS10315.1			1	
NOL4	0	LGGM	GRCh37	18	31599387	31599387	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	58	4	.	.	ENST00000261592.5:c.951G>T	p.Ser317=	p.S317=	ENST00000261592	NM_001198546.1	317	tcG/tcT	0	1	1	UPI000059D504	0		ENST00000261592		ENSG00000101746	7870		62			HGNC	p.S162S		NOL4		SNV							ENST00000535475	protein_coding			hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8		S		A		1249/3957							YES	NOL4,synonymous_variant,p.=,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,synonymous_variant,p.=,ENST00000269185,NM_001198548.1;NOL4,synonymous_variant,p.=,ENST00000589544,;NOL4,synonymous_variant,p.=,ENST00000535475,;NOL4,synonymous_variant,p.=,ENST00000538587,NM_001198547.1;NOL4,synonymous_variant,p.=,ENST00000590712,;NOL4,synonymous_variant,p.=,ENST00000535384,NM_001198549.1;NOL4,synonymous_variant,p.=,ENST00000586553,;NOL4,3_prime_UTR_variant,,ENST00000586314,;							LOW	951/1917		NOL4_HUMAN			Transcript			.	ENSP00000261592		CCDS11907.2			1	
CUX1	0	LGGM	GRCh37	7	101840318	101840318	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	54	4	.	.	ENST00000360264.3:c.1660G>T	p.Gly554Trp	p.G554W	ENST00000360264	NM_001202543.1	554	Ggg/Tgg	0	1		UPI0000246CDF	0	NA	ENST00000292535		ENSG00000257923	2557		58	0.895		HGNC	p.G543W		CUX1		SNV							ENST00000292535	protein_coding	getma.org/?cm=var&var=hg19,7,101840318,G,T&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51042,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4,Superfamily_domains:SSF47413		G/W		T	low	1665/13747		getma.org/?cm=msa&ty=f&p=CUX1_HUMAN&rb=543&re=629&var=G543W	deleterious(0)					CUX1,missense_variant,p.Gly554Trp,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Gly543Trp,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Gly543Trp,ENST00000549414,;CUX1,missense_variant,p.Gly543Trp,ENST00000550008,;CUX1,missense_variant,p.Gly441Trp,ENST00000546411,;CUX1,missense_variant,p.Gly441Trp,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;SNORA48,upstream_gene_variant,,ENST00000517015,;CUX1,intron_variant,,ENST00000560541,;CUX1,intron_variant,,ENST00000558836,;							MODERATE	1627/4518	G543W	CUX1_HUMAN			Transcript		unknown(0)	.	ENSP00000292535		CCDS5721.1			1	
PRB4	0	LGGM	GRCh37	12	11461397	11461397	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	61	4	.	.	ENST00000279575.1:c.520C>A	p.Arg174=	p.R174=	ENST00000279575	NM_001261399.1	174	Cga/Aga	0	1	1	UPI000013DBDC	0		ENST00000279575		ENSG00000230657	9340		65			HGNC	p.R174R		PRB4		SNV							ENST00000279575	protein_coding			hmmpanther:PTHR23203:SF4,hmmpanther:PTHR23203,Pfam_domain:PF15240		R		T		554/913				E9PAL0_HUMAN			YES	PRB4,synonymous_variant,p.=,ENST00000279575,NM_001261399.1,NM_002723.4;PRB4,synonymous_variant,p.=,ENST00000535904,;PRB4,intron_variant,,ENST00000445719,;							LOW	520/744					Transcript			.	ENSP00000279575		CCDS8641.1			1	
PPCS	0	LGGM	GRCh37	1	42922471	42922471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	82	4	.	.	ENST00000372561.3:c.235G>T	p.Gly79Trp	p.G79W	ENST00000372561	NM_024664.2	79	Ggg/Tgg	0	1	1	UPI000035B21F	0	getma.org/pdb.php?prot=PPCS_HUMAN&from=32&to=97&var=G79W	ENST00000372561		ENSG00000127125	25686		86	1.345		HGNC	p.G79W		PPCS		SNV							ENST00000372561	protein_coding	getma.org/?cm=var&var=hg19,1,42922471,G,T&fts=all		hmmpanther:PTHR12290:SF2,hmmpanther:PTHR12290,Pfam_domain:PF04127,Gene3D:3.40.50.10300,Superfamily_domains:SSF102645		G/W		T	low	242/1431		getma.org/?cm=msa&ty=f&p=PPCS_HUMAN&rb=32&re=97&var=G79W	deleterious(0)				YES	PPCS,missense_variant,p.Gly79Trp,ENST00000372561,NM_024664.2;PPCS,missense_variant,p.Gly79Trp,ENST00000372560,;PPCS,intron_variant,,ENST00000455780,NM_001077447.1;PPCS,intron_variant,,ENST00000372556,;PPCS,intron_variant,,ENST00000372562,;ZMYND12,upstream_gene_variant,,ENST00000372565,NM_032257.4;ZMYND12,upstream_gene_variant,,ENST00000433602,NM_001146192.1;PPCS,non_coding_transcript_exon_variant,,ENST00000472013,;PPCS,upstream_gene_variant,,ENST00000469615,;PPCS,upstream_gene_variant,,ENST00000482168,;PPCS,upstream_gene_variant,,ENST00000471420,;ZMYND12,upstream_gene_variant,,ENST00000461083,;							MODERATE	235/936	G79W	PPCS_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000361642		CCDS41311.1			1	
PIAS2	0	LGGM	GRCh37	18	44400900	44400900	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	58	4	.	.	ENST00000585916.1:c.1644G>T	p.Leu548Phe	p.L548F	ENST00000585916	NM_004671.3	548	ttG/ttT	0	1	1	UPI0000201CB9	0	NA	ENST00000585916		ENSG00000078043	17311		62	1.59		HGNC	p.L548F		PIAS2		SNV							ENST00000324794	protein_coding	getma.org/?cm=var&var=hg19,18,44400900,C,A&fts=all		hmmpanther:PTHR10782,hmmpanther:PTHR10782:SF12		L/F		A	low	1644/5909		getma.org/?cm=msa&ty=f&p=PIAS2_HUMAN&rb=392&re=591&var=L548F	deleterious(0.01)	K7EJT4_HUMAN			YES	PIAS2,missense_variant,p.Leu548Phe,ENST00000585916,NM_004671.3;PIAS2,missense_variant,p.Leu548Phe,ENST00000324794,NM_173206.3;PIAS2,missense_variant,p.Leu258Phe,ENST00000545673,;PIAS2,3_prime_UTR_variant,,ENST00000398654,;							MODERATE	1644/1866	L548F	PIAS2_HUMAN			Transcript		benign(0.39)	.	ENSP00000465676		CCDS32824.1			1	
ATXN7L1	0	LGGM	GRCh37	7	105254170	105254170	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	18	4	.	.	ENST00000419735.3:c.2472+139C>A		*824*	ENST00000419735	NM_020725.1			0	1	1	UPI000162C85E	0		ENST00000419735		ENSG00000146776	22210		22			HGNC	p.P572T		ATXN7L1		SNV							ENST00000484475	protein_coding							T		-/5417				F8WDE7_HUMAN			YES	ATXN7L1,missense_variant,p.Pro572Thr,ENST00000484475,;ATXN7L1,missense_variant,p.Pro531Thr,ENST00000388807,;ATXN7L1,intron_variant,,ENST00000419735,NM_020725.1;ATXN7L1,intron_variant,,ENST00000477775,NM_138495.1;ATXN7L1,downstream_gene_variant,,ENST00000472195,;ATXN7L1,3_prime_UTR_variant,,ENST00000474433,;							MODIFIER	-/2586		AT7L1_HUMAN			Transcript			.	ENSP00000410759		CCDS47682.1			1	
ZNF366	0	LGGM	GRCh37	5	71757220	71757220	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	38	4	.	.	ENST00000318442.5:c.104G>T	p.Arg35Leu	p.R35L	ENST00000318442	NM_152625.1	35	cGg/cTg	0	1	1	UPI000013C368	0	NA	ENST00000318442		ENSG00000178175	18316		42	0.975		HGNC	p.R35L	rs765523103	ZNF366		SNV							ENST00000318442	protein_coding	getma.org/?cm=var&var=hg19,5,71757220,C,A&fts=all		hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF38		R/L		A	low	595/3830	1.54E-05	getma.org/?cm=msa&ty=f&p=ZN366_HUMAN&rb=1&re=200&var=R35L	tolerated_low_confidence(0.11)	F8W732_HUMAN			YES	ZNF366,missense_variant,p.Arg35Leu,ENST00000318442,NM_152625.1;ZNF366,missense_variant,p.Arg35Leu,ENST00000414109,;ZNF366,missense_variant,p.Arg35Leu,ENST00000514477,;							MODERATE	104/2235	R35L	ZN366_HUMAN			Transcript		benign(0.089)	.	ENSP00000313158	8.27E-06	CCDS4015.1			1	
LRRC61	0	LGGM	GRCh37	7	150034508	150034508	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	20	4	.	.	ENST00000359623.4:c.558C>T	p.Ser186=	p.S186=	ENST00000359623	NM_001142928.1	186	agC/agT	0	1		UPI000006F2E8	0		ENST00000323078		ENSG00000127399	21704		24			HGNC	p.S186S		LRRC61		SNV							ENST00000359623	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF201		S		T		1000/1684								LRRC61,synonymous_variant,p.=,ENST00000359623,NM_001142928.1;LRRC61,synonymous_variant,p.=,ENST00000323078,NM_023942.2;LRRC61,synonymous_variant,p.=,ENST00000493307,;ZBED6CL,downstream_gene_variant,,ENST00000343855,NM_138434.2;RARRES2,downstream_gene_variant,,ENST00000466675,;RARRES2,downstream_gene_variant,,ENST00000223271,NM_002889.3;RARRES2,downstream_gene_variant,,ENST00000467793,;RARRES2,downstream_gene_variant,,ENST00000482669,;RP4-584D14.7,upstream_gene_variant,,ENST00000563946,;RARRES2,downstream_gene_variant,,ENST00000478771,;							LOW	558/780		LRC61_HUMAN			Transcript			.	ENSP00000339047		CCDS5901.1			1	
OR1L3	0	LGGM	GRCh37	9	125437411	125437411	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	64	4	.	.	ENST00000304820.2:c.3G>T	p.Met1?	p.M1?	ENST00000304820	NM_001005234.1	1	atG/atT	0	1	1	UPI000004618D	0	NA	ENST00000304820		ENSG00000171481	8215		68	0		HGNC	p.M1I		OR1L3		SNV							ENST00000304820	protein_coding	getma.org/?cm=var&var=hg19,9,125437411,G,T&fts=all		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF198,Superfamily_domains:SSF81321		M/I		T	NA	97/1118		http://getma.org/?cm=msa&ty=f&p=OR1L3_HUMAN&rb=1&re=138&var=M1I	deleterious(0.01)				YES	OR1L3,start_lost,p.Met1?,ENST00000304820,NM_001005234.1;							HIGH	3/975	M1I	OR1L3_HUMAN			Transcript		benign(0.002)	.	ENSP00000302863		CCDS35128.1			1	
SYNE2	0	LGGM	GRCh37	14	64625430	64625430	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	41	4	.	.	ENST00000358025.3:c.15880A>G	p.Ile5294Val	p.I5294V	ENST00000358025	NM_182914.2	5294	Atc/Gtc	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		45	1.5		HGNC	p.I1679V		SYNE2		SNV			1				ENST00000357395	protein_coding	getma.org/?cm=var&var=hg19,14,64625430,A,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966		I/V		G	low	16092/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=5279&re=5478&var=I5294V		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Ile1679Val,ENST00000357395,;SYNE2,missense_variant,p.Ile5294Val,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ile5294Val,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ile5211Val,ENST00000554584,;SYNE2,missense_variant,p.Ile1928Val,ENST00000555002,;SYNE2,missense_variant,p.Ile1679Val,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;SYNE2,missense_variant,p.Ile256Val,ENST00000555612,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557024,;SYNE2,upstream_gene_variant,,ENST00000553289,;							MODERATE	15880/20658	I5294V	SYNE2_HUMAN			Transcript		benign(0.008)	.	ENSP00000341781		CCDS41963.1			1	
TNC	0	LGGM	GRCh37	9	117849252	117849252	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	4	.	.	ENST00000350763.4:c.758C>A	p.Pro253Gln	p.P253Q	ENST00000350763	NM_002160.3	253	cCa/cAa	0	1	1	UPI000013D5BD	0	getma.org/pdb.php?prot=TENA_HUMAN&from=252&to=279&var=P253Q	ENST00000350763		ENSG00000041982	5318		37	2.35		HGNC	p.P253Q		TNC		SNV			1				ENST00000537320	protein_coding	getma.org/?cm=var&var=hg19,9,117849252,G,T&fts=all		Pfam_domain:PF07974,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38,SMART_domains:SM00181		P/Q		T	medium	1170/7641		getma.org/?cm=msa&ty=f&p=TENA_HUMAN&rb=232&re=299&var=P253Q	deleterious(0.01)	F5H5D6_HUMAN			YES	TNC,missense_variant,p.Pro253Gln,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Pro253Gln,ENST00000341037,;TNC,missense_variant,p.Pro253Gln,ENST00000340094,;TNC,missense_variant,p.Pro253Gln,ENST00000423613,;TNC,missense_variant,p.Pro253Gln,ENST00000535648,;TNC,missense_variant,p.Pro253Gln,ENST00000346706,;TNC,missense_variant,p.Pro253Gln,ENST00000345230,;TNC,missense_variant,p.Pro253Gln,ENST00000542877,;TNC,missense_variant,p.Pro253Gln,ENST00000537320,;TNC,downstream_gene_variant,,ENST00000534839,;							MODERATE	758/6606	P253Q	TENA_HUMAN			Transcript		benign(0.37)	.	ENSP00000265131		CCDS6811.1			1	
DISP2	0	LGGM	GRCh37	15	40657052	40657052	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	49	4	.	.	ENST00000267889.3:c.617G>T	p.Arg206Leu	p.R206L	ENST00000267889	NM_033510.1	206	cGg/cTg	0	1	1	UPI0000160F9B	0	NA	ENST00000267889		ENSG00000140323	19712		53	2.52		HGNC	p.R206L		DISP2		SNV							ENST00000267889	protein_coding	getma.org/?cm=var&var=hg19,15,40657052,G,T&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58		R/L		T	medium	704/5031		getma.org/?cm=msa&ty=f&p=DISP2_HUMAN&rb=5&re=968&var=R206L	deleterious(0)				YES	DISP2,missense_variant,p.Arg206Leu,ENST00000267889,NM_033510.1;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,upstream_gene_variant,,ENST00000559721,;							MODERATE	617/4206	R206L	DISP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000267889		CCDS10056.1			1	
OTC	0	LGGM	GRCh37	X	38271221	38271221	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	53	4	.	.	ENST00000039007.4:c.974C>A	p.Pro325Gln	p.P325Q	ENST00000039007	NM_000531.5	325	cCa/cAa	0	1	1	UPI000013C550	0	getma.org/pdb.php?prot=OTC_HUMAN&from=187&to=341&var=P325Q	ENST00000039007		ENSG00000036473	8512		57	-0.17		HGNC	p.P325Q		OTC		SNV			1				ENST00000039007	protein_coding	getma.org/?cm=var&var=hg19,X,38271221,C,A&fts=all		Gene3D:3.40.50.1370,Pfam_domain:PF00185,Prints_domain:PR00100,Prints_domain:PR00102,hmmpanther:PTHR11405,Superfamily_domains:SSF53671,TIGRFAM_domain:TIGR00658		P/Q		A	neutral	1126/1585		getma.org/?cm=msa&ty=f&p=OTC_HUMAN&rb=187&re=341&var=P325Q	tolerated(0.51)				YES	OTC,missense_variant,p.Pro325Gln,ENST00000039007,NM_000531.5;TM4SF2,intron_variant,,ENST00000465127,;							MODERATE	974/1065	P325Q	OTC_HUMAN			Transcript		benign(0.002)	.	ENSP00000039007		CCDS14247.1			1	
TLE3	0	LGGM	GRCh37	15	70368497	70368497	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	78	4	.	.	ENST00000558939.1:c.235A>G	p.Thr79Ala	p.T79A	ENST00000558939	NM_001282979.1	79	Aca/Gca	0	1	1	UPI000013703A	0	NA	ENST00000558939		ENSG00000140332	11839		82	1.09		HGNC	p.T77A		TLE3		SNV							ENST00000557984	protein_coding	getma.org/?cm=var&var=hg19,15,70368497,T,C&fts=all		hmmpanther:PTHR10814,Pfam_domain:PF03920		T/A		C	low	1613/6004		getma.org/?cm=msa&ty=f&p=TLE3_HUMAN&rb=1&re=136&var=T79A	tolerated(0.51)	H0YNT2_HUMAN			YES	TLE3,missense_variant,p.Thr79Ala,ENST00000558939,NM_001282979.1;TLE3,missense_variant,p.Thr79Ala,ENST00000442299,;TLE3,missense_variant,p.Thr79Ala,ENST00000317509,NM_005078.2,NM_001105192.1,NM_020908.1;TLE3,missense_variant,p.Thr79Ala,ENST00000557997,;TLE3,missense_variant,p.Thr23Ala,ENST00000560589,;TLE3,missense_variant,p.Thr79Ala,ENST00000559929,;TLE3,missense_variant,p.Thr85Ala,ENST00000560939,;TLE3,missense_variant,p.Thr85Ala,ENST00000559048,;TLE3,missense_variant,p.Thr85Ala,ENST00000558201,;TLE3,missense_variant,p.Thr72Ala,ENST00000440567,NM_001282981.1;TLE3,missense_variant,p.Thr13Ala,ENST00000539550,;TLE3,missense_variant,p.Thr79Ala,ENST00000451782,;TLE3,missense_variant,p.Thr79Ala,ENST00000558379,NM_001282980.1;TLE3,missense_variant,p.Thr79Ala,ENST00000557907,;TLE3,missense_variant,p.Thr23Ala,ENST00000560996,;TLE3,missense_variant,p.Thr77Ala,ENST00000557984,;TLE3,intron_variant,,ENST00000559191,;MIR629,downstream_gene_variant,,ENST00000385230,;TLE3,missense_variant,p.Thr79Ala,ENST00000557919,;TLE3,missense_variant,p.Thr79Ala,ENST00000561453,;TLE3,missense_variant,p.Thr153Ala,ENST00000560525,;TLE3,upstream_gene_variant,,ENST00000537387,;							MODERATE	235/2319	T79A	TLE3_HUMAN			Transcript		benign(0.33)	.	ENSP00000452871		CCDS45293.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1812563	1812563	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	72	4	.	.	ENST00000349830.3:c.506G>T	p.Arg169Leu	p.R169L	ENST00000349830	NM_014629.2	169	cGc/cTc	0	1		UPI0000D89824	0	NA	ENST00000398564		ENSG00000104728	14103		76	0.69		HGNC	p.R169L		ARHGEF10		SNV			1				ENST00000349830	protein_coding	getma.org/?cm=var&var=hg19,8,1812563,G,T&fts=all		hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14		R/L		T	neutral	581/5480		getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=23&re=238&var=R194L	tolerated_low_confidence(0.7)					ARHGEF10,missense_variant,p.Arg194Leu,ENST00000518288,;ARHGEF10,missense_variant,p.Arg169Leu,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Arg194Leu,ENST00000398564,;ARHGEF10,missense_variant,p.Arg170Leu,ENST00000520359,;ARHGEF10,missense_variant,p.Arg194Leu,ENST00000262112,;ARHGEF10,missense_variant,p.Arg194Leu,ENST00000398560,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000382795,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000522969,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;							MODERATE	581/4110	R194L	ARHGA_HUMAN			Transcript		benign(0.035)	.	ENSP00000381571					1	
MPHOSPH10	0	LGGM	GRCh37	2	71360261	71360261	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	40	4	.	.	ENST00000244230.2:c.323C>A	p.Pro108Gln	p.P108Q	ENST00000244230	NM_005791.2	108	cCa/cAa	0	1	1	UPI000012F41D	0	NA	ENST00000244230		ENSG00000124383	7213		44	1.31		HGNC	p.P108Q		MPHOSPH10		SNV							ENST00000244230	protein_coding	getma.org/?cm=var&var=hg19,2,71360261,C,A&fts=all		Pfam_domain:PF04006,PIRSF_domain:PIRSF017300,hmmpanther:PTHR17039		P/Q		A	low	675/2484		getma.org/?cm=msa&ty=f&p=MPP10_HUMAN&rb=17&re=657&var=P108Q	tolerated(0.07)				YES	MPHOSPH10,missense_variant,p.Pro108Gln,ENST00000244230,NM_005791.2;MPHOSPH10,missense_variant,p.Pro108Gln,ENST00000498451,;MCEE,upstream_gene_variant,,ENST00000494660,;MCEE,upstream_gene_variant,,ENST00000244217,NM_032601.3;MCEE,upstream_gene_variant,,ENST00000486135,;MPHOSPH10,non_coding_transcript_exon_variant,,ENST00000468427,;							MODERATE	323/2046	P108Q	MPP10_HUMAN			Transcript		benign(0.11)	.	ENSP00000244230		CCDS1916.1			1	
FARSA	0	LGGM	GRCh37	19	13041162	13041162	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	16	4	.	.	ENST00000314606.4:c.385-7C>A		p.X129_splice	ENST00000314606	NM_004461.2			0	1	1	UPI0000136413	0		ENST00000314606		ENSG00000179115	3592		20			HGNC	p.S155S		FARSA		SNV							ENST00000587981	protein_coding							T		-/1814				Q6IBR2_HUMAN			YES	FARSA,splice_region_variant,,ENST00000588025,;FARSA,splice_region_variant,,ENST00000314606,NM_004461.2;FARSA,splice_region_variant,,ENST00000423140,;FARSA,splice_region_variant,,ENST00000593021,;FARSA,synonymous_variant,p.=,ENST00000587981,;FARSA,upstream_gene_variant,,ENST00000587488,;CTC-425F1.2,upstream_gene_variant,,ENST00000592636,;FARSA,splice_region_variant,,ENST00000588965,;FARSA,splice_region_variant,,ENST00000586146,;FARSA,splice_region_variant,,ENST00000592662,;FARSA,splice_region_variant,,ENST00000586280,;							LOW	-/1527		SYFA_HUMAN			Transcript			.	ENSP00000320309		CCDS12287.1			1	
GBF1	0	LGGM	GRCh37	10	104130604	104130604	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	13	4	.	.	ENST00000369983.3:c.3644A>T	p.Glu1215Val	p.E1215V	ENST00000369983	NM_004193.2	1215	gAg/gTg	0	1	1	UPI000012B228	0	NA	ENST00000369983		ENSG00000107862	4181		17	1.935		HGNC	p.E1215V		GBF1		SNV							ENST00000369983	protein_coding	getma.org/?cm=var&var=hg19,10,104130604,A,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138,Low_complexity_(Seg):seg		E/V		T	medium	3904/6403		getma.org/?cm=msa&ty=f&p=GBF1_HUMAN&rb=1085&re=1284&var=E1215V	deleterious(0)	Q149P0_HUMAN			YES	GBF1,missense_variant,p.Glu1215Val,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;							MODERATE	3644/5580	E1215V	GBF1_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000359000		CCDS7533.1			1	
HINT2	0	LGGM	GRCh37	9	35813282	35813282	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	71	4	.	.	ENST00000259667.5:c.381G>T	p.Leu127=	p.L127=	ENST00000259667	NM_032593.2	127	ctG/ctT	0	1	1	UPI000000DC49	0		ENST00000259667		ENSG00000137133	18344		75			HGNC	p.L127L		HINT2		SNV							ENST00000259667	protein_coding			Superfamily_domains:SSF54197,Gene3D:3.30.428.10,Pfam_domain:PF01230,hmmpanther:PTHR23089:SF4,hmmpanther:PTHR23089,PROSITE_profiles:PS51084		L		A		423/628							YES	HINT2,synonymous_variant,p.=,ENST00000259667,NM_032593.2;NPR2,downstream_gene_variant,,ENST00000342694,NM_003995.3;FAM221B,downstream_gene_variant,,ENST00000423537,NM_001012446.3;TMEM8B,upstream_gene_variant,,ENST00000377996,;SPAG8,upstream_gene_variant,,ENST00000340291,NM_172312.1;SPAG8,upstream_gene_variant,,ENST00000484764,;SPAG8,upstream_gene_variant,,ENST00000396638,NM_001039592.1;SPAG8,upstream_gene_variant,,ENST00000497810,;NPR2,downstream_gene_variant,,ENST00000421267,;NPR2,downstream_gene_variant,,ENST00000447210,;AL133410.1,upstream_gene_variant,,ENST00000582432,;HINT2,non_coding_transcript_exon_variant,,ENST00000474908,;HINT2,non_coding_transcript_exon_variant,,ENST00000474848,;HINT2,non_coding_transcript_exon_variant,,ENST00000461169,;HINT2,non_coding_transcript_exon_variant,,ENST00000490578,;HINT2,non_coding_transcript_exon_variant,,ENST00000472085,;HINT2,non_coding_transcript_exon_variant,,ENST00000471774,;SPAG8,upstream_gene_variant,,ENST00000479751,;SPAG8,upstream_gene_variant,,ENST00000463889,;SPAG8,upstream_gene_variant,,ENST00000489063,;FAM221B,downstream_gene_variant,,ENST00000388950,;NPR2,downstream_gene_variant,,ENST00000464810,;SPAG8,upstream_gene_variant,,ENST00000475644,;SPAG8,upstream_gene_variant,,ENST00000472605,;SPAG8,upstream_gene_variant,,ENST00000495667,;SPAG8,upstream_gene_variant,,ENST00000471631,;NPR2,downstream_gene_variant,,ENST00000448821,;SPAG8,upstream_gene_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000469249,;							LOW	381/492		HINT2_HUMAN			Transcript			.	ENSP00000259667		CCDS6594.1			1	
ZSCAN22	0	LGGM	GRCh37	19	58846408	58846408	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	20	4	.	.	ENST00000329665.4:c.240C>A	p.Pro80=	p.P80=	ENST00000329665	NM_181846.2	80	ccC/ccA	0	1	1	UPI00001A9CCE	0		ENST00000329665		ENSG00000182318	4929		24			HGNC	p.P80P		ZSCAN22		SNV							ENST00000329665	protein_coding			Superfamily_domains:SSF47353,SMART_domains:SM00431,Pfam_domain:PF02023,hmmpanther:PTHR23226:SF59,hmmpanther:PTHR23226,PROSITE_profiles:PS50804		P		A		387/4629							YES	ZSCAN22,synonymous_variant,p.=,ENST00000329665,NM_181846.2;							LOW	240/1476		ZSC22_HUMAN			Transcript			.	ENSP00000332433		CCDS12975.1			1	
TMEM201	0	LGGM	GRCh37	1	9673086	9673086	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	5	4	.	.	ENST00000340381.6:c.1946G>T	p.Ser649Ile	p.S649I	ENST00000340381	NM_001130924.2	649	aGc/aTc	0	1	1	UPI000022B297	0	NA	ENST00000340381		ENSG00000188807	33719		9	1.1		HGNC	p.S625I		TMEM201		SNV							ENST00000377376	protein_coding	getma.org/?cm=var&var=hg19,1,9673086,G,T&fts=all		Transmembrane_helices:TMhelix		S/I		T	low	1955/3776		getma.org/?cm=msa&ty=f&p=TM201_HUMAN&rb=593&re=666&var=S649I	deleterious(0)				YES	TMEM201,missense_variant,p.Ser625Ile,ENST00000377376,;TMEM201,missense_variant,p.Ser649Ile,ENST00000340381,NM_001130924.2;TMEM201,missense_variant,p.Ser535Ile,ENST00000416541,;TMEM201,3_prime_UTR_variant,,ENST00000508400,;							MODERATE	1946/2001	S649I	TM201_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000344503		CCDS44055.2			1	
DST	0	LGGM	GRCh37	6	56505174	56505174	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	61	4	.	.	ENST00000244364.6:c.646G>T	p.Gly216Trp	p.G216W	ENST00000244364	NM_015548.4	216	Ggg/Tgg	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		65	1.5		HGNC	p.G542W		DST		SNV			1				ENST00000312431	protein_coding	getma.org/?cm=var&var=hg19,6,56505174,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38		G/W		A	low	854/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=456&re=655&var=G542W		Q86T18_HUMAN			YES	DST,missense_variant,p.Gly720Trp,ENST00000370754,;DST,missense_variant,p.Gly542Trp,ENST00000370769,;DST,missense_variant,p.Gly542Trp,ENST00000312431,;DST,missense_variant,p.Gly216Trp,ENST00000446842,;DST,missense_variant,p.Gly542Trp,ENST00000361203,;DST,missense_variant,p.Gly542Trp,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Gly542Trp,ENST00000421834,;DST,missense_variant,p.Gly216Trp,ENST00000244364,NM_015548.4;DST,missense_variant,p.Gly216Trp,ENST00000439203,;DST,missense_variant,p.Gly216Trp,ENST00000370765,NM_001723.5;DST,missense_variant,p.Gly582Trp,ENST00000520645,;DST,missense_variant,p.Gly216Trp,ENST00000518935,;DST,downstream_gene_variant,,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;							MODERATE	646/15516	G542W	DYST_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000244364		CCDS47443.1			1	
MADCAM1	0	LGGM	GRCh37	19	501738	501739	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	novel	by Submitter	H091449	H091449N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	5	5	.	.	ENST00000215637.3:c.784_785insAGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC	p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer	p.S261_P262insQESPDTTSQEPPDTTS	ENST00000215637	NM_130760.2	246	ccg/ccGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAg	0	1	1	UPI000013C68F	0		ENST00000215637		ENSG00000099866	6765		10			HGNC	p.P246delinsPESPDTTSQEPPDTTSQ	rs770954228	MADCAM1		insertion	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.9059						ENST00000215637	protein_coding			hmmpanther:PTHR14162,hmmpanther:PTHR14162:SF0,Low_complexity_(Seg):seg		P/PESPDTTSQEPPDTTSQ	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.8072	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA		783-784/1577				B9EGE2_HUMAN			YES	MADCAM1,inframe_insertion,p.Ser42_Pro43insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000587541,;MADCAM1,inframe_insertion,p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000215637,NM_130760.2;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.2,intron_variant,,ENST00000592413,;							MODERATE	737-738/1149		MADCA_HUMAN			Transcript	47		.	ENSP00000215637		CCDS12028.1			1	
C4orf21	0	LGGM	GRCh37	4	113539368	113539368	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	5	.	.	ENST00000505019.1:c.1830A>T	p.Pro610=	p.P610=	ENST00000505019	NM_018392.4	610	ccA/ccT	0	1		UPI0002065843	0		ENST00000445203		ENSG00000138658	25654		38			HGNC	p.P610P		C4orf21		SNV							ENST00000473015	protein_coding					P		A		2266/3416								C4orf21,synonymous_variant,p.=,ENST00000505019,NM_018392.4;C4orf21,synonymous_variant,p.=,ENST00000445203,;C4orf21,synonymous_variant,p.=,ENST00000309071,;C4orf21,downstream_gene_variant,,ENST00000503172,;C4orf21,synonymous_variant,p.=,ENST00000473015,;C4orf21,3_prime_UTR_variant,,ENST00000514770,;C4orf21,non_coding_transcript_exon_variant,,ENST00000264370,;C4orf21,downstream_gene_variant,,ENST00000502805,;C4orf21,downstream_gene_variant,,ENST00000512075,;							LOW	1737/2748		CD021_HUMAN			Transcript			.	ENSP00000390505					1	
ADAD2	0	LGGM	GRCh37	16	84229461	84229461	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	6	5	.	.	ENST00000268624.3:c.1339C>G	p.Pro447Ala	p.P447A	ENST00000268624	NM_139174.3	447	Ccc/Gcc	0	1		UPI0000073CA5	0	getma.org/pdb.php?prot=ADAD2_HUMAN&from=261&to=578&var=P365A	ENST00000315906		ENSG00000140955	30714		11	0.02		HGNC	p.P365A		ADAD2		SNV							ENST00000315906	protein_coding	getma.org/?cm=var&var=hg19,16,84229461,C,G&fts=all		PROSITE_profiles:PS50141,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF83,Pfam_domain:PF02137,SMART_domains:SM00552		P/A		G	neutral	1145/1995		getma.org/?cm=msa&ty=f&p=ADAD2_HUMAN&rb=261&re=578&var=P365A	tolerated(0.65)	D3DUL6_HUMAN				ADAD2,missense_variant,p.Pro447Ala,ENST00000268624,NM_139174.3;ADAD2,missense_variant,p.Pro365Ala,ENST00000315906,NM_001145400.1;ADAD2,downstream_gene_variant,,ENST00000567685,;RP11-486L19.2,intron_variant,,ENST00000536986,;RP11-486L19.2,intron_variant,,ENST00000565643,;RP11-486L19.2,intron_variant,,ENST00000569834,;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,;ADAD2,downstream_gene_variant,,ENST00000567413,;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,;ADAD2,intron_variant,,ENST00000566526,;ADAD2,downstream_gene_variant,,ENST00000564169,;ADAD2,downstream_gene_variant,,ENST00000569221,;ADAD2,upstream_gene_variant,,ENST00000563849,;							MODERATE	1093/1752	P365A	ADAD2_HUMAN			Transcript		benign(0.01)	.	ENSP00000325153		CCDS45536.1			1	
ADAM7	0	LGGM	GRCh37	8	24324450	24324450	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	81	5	.	.	ENST00000175238.6:c.528C>A	p.Thr176=	p.T176=	ENST00000175238	NM_003817.3	176	acC/acA	0	1	1	UPI000013C5CC	0		ENST00000175238		ENSG00000069206	214		86			HGNC	p.T176T		ADAM7		SNV							ENST00000175238	protein_coding			hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905		T		A		611/3367							YES	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,;							LOW	528/2265		ADAM7_HUMAN			Transcript			.	ENSP00000175238		CCDS6045.1			1	
SLC5A11	0	LGGM	GRCh37	16	24887024	24887024	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	19	5	.	.	ENST00000347898.3:c.449T>A	p.Leu150Gln	p.L150Q	ENST00000347898	NM_052944.3	150	cTa/cAa	0	1	1	UPI0000036161	0	getma.org/pdb.php?prot=SC5AB_HUMAN&from=58&to=487&var=L150Q	ENST00000347898		ENSG00000158865	23091		24	4.2		HGNC	p.L86Q		SLC5A11		SNV							ENST00000565769	protein_coding	getma.org/?cm=var&var=hg19,16,24887024,T,A&fts=all		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF127,TIGRFAM_domain:TIGR00813,Transmembrane_helices:TMhelix		L/Q		A	high	1071/2745		getma.org/?cm=msa&ty=f&p=SC5AB_HUMAN&rb=58&re=487&var=L150Q	deleterious(0)	H3BN85_HUMAN			YES	SLC5A11,missense_variant,p.Leu150Gln,ENST00000347898,NM_052944.3;SLC5A11,missense_variant,p.Leu86Gln,ENST00000565769,NM_001258413.1;SLC5A11,missense_variant,p.Leu86Gln,ENST00000539472,;SLC5A11,missense_variant,p.Leu86Gln,ENST00000449109,NM_001258414.1;SLC5A11,missense_variant,p.Leu86Gln,ENST00000569071,;SLC5A11,intron_variant,,ENST00000424767,NM_001258411.1;SLC5A11,intron_variant,,ENST00000567758,;SLC5A11,intron_variant,,ENST00000545376,NM_001258412.1;SLC5A11,intron_variant,,ENST00000568579,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;SLC5A11,upstream_gene_variant,,ENST00000565586,;							MODERATE	449/2028	L150Q	SC5AB_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000289932		CCDS10625.1			1	
LRRC53	0	LGGM	GRCh37	1	74941118	74941118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	128	5	.	.	ENST00000294635.4:c.1281G>T	p.Glu427Asp	p.E427D	ENST00000294635		427	gaG/gaT	0	1	1	UPI000178DEDE	0		ENST00000294635		ENSG00000162621	25255		133			HGNC	p.E427D		LRRC53		SNV							ENST00000294635	protein_coding					E/D		A		1396/3859			deleterious(0.01)				YES	LRRC53,missense_variant,p.Glu427Asp,ENST00000294635,;LRRC53,missense_variant,p.Glu427Asp,ENST00000416014,;TNNI3K,intron_variant,,ENST00000370891,NM_001112808.2;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,;							MODERATE	1281/3744		LRC53_HUMAN			Transcript		benign(0.059)	.	ENSP00000294635					1	
C4orf21	0	LGGM	GRCh37	4	113539370	113539370	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	5	.	.	ENST00000505019.1:c.1828C>G	p.Pro610Ala	p.P610A	ENST00000505019	NM_018392.4	610	Cca/Gca	0	1		UPI0002065843	0	NA	ENST00000445203		ENSG00000138658	25654		38	1.245		HGNC	p.P610A		C4orf21		SNV							ENST00000473015	protein_coding	getma.org/?cm=var&var=hg19,4,113539370,G,C&fts=all				P/A		C	low	2264/3416		getma.org/?cm=msa&ty=f&p=CD021_HUMAN&rb=479&re=678&var=P610A	tolerated(0.29)					C4orf21,missense_variant,p.Pro610Ala,ENST00000505019,NM_018392.4;C4orf21,missense_variant,p.Pro579Ala,ENST00000445203,;C4orf21,missense_variant,p.Pro610Ala,ENST00000309071,;C4orf21,downstream_gene_variant,,ENST00000503172,;C4orf21,missense_variant,p.Pro610Ala,ENST00000473015,;C4orf21,3_prime_UTR_variant,,ENST00000514770,;C4orf21,non_coding_transcript_exon_variant,,ENST00000264370,;C4orf21,downstream_gene_variant,,ENST00000502805,;C4orf21,downstream_gene_variant,,ENST00000512075,;							MODERATE	1735/2748	P610A	CD021_HUMAN			Transcript		benign(0.114)	.	ENSP00000390505					1	
PAPPA2	0	LGGM	GRCh37	1	176659340	176659340	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	76	5	.	.	ENST00000367662.3:c.2205G>T	p.Val735=	p.V735=	ENST00000367662	NM_020318.2	735	gtG/gtT	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		81			HGNC	p.V735V		PAPPA2		SNV							ENST00000367661	protein_coding			Gene3D:3.40.390.10,Pfam_domain:PF05572,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349,Superfamily_domains:SSF55486,Superfamily_domains:SSF55486		V		T		3369/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;PAPPA2,synonymous_variant,p.=,ENST00000367661,NM_021936.2;							LOW	2205/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
OR5D16	0	LGGM	GRCh37	11	55606810	55606810	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	53	5	.	.	ENST00000378396.1:c.583T>A	p.Tyr195Asn	p.Y195N	ENST00000378396	NM_001005496.1	195	Tat/Aat	0	1	1	UPI0000046198	0	NA	ENST00000378396		ENSG00000205029	15283		58	2.315		HGNC	p.Y195N		OR5D16		SNV							ENST00000378396	protein_coding	getma.org/?cm=var&var=hg19,11,55606810,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321		Y/N		A	medium	583/987		getma.org/?cm=msa&ty=f&p=OR5DG_HUMAN&rb=141&re=285&var=Y195N	deleterious(0.04)				YES	OR5D16,missense_variant,p.Tyr195Asn,ENST00000378396,NM_001005496.1;							MODERATE	583/987	Y195N	OR5DG_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000367649		CCDS31512.1			1	
NLRP4	0	LGGM	GRCh37	19	56369192	56369192	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	72	5	.	.	ENST00000301295.6:c.433G>T	p.Gly145Trp	p.G145W	ENST00000301295	NM_134444.4	145	Ggg/Tgg	0	1	1	UPI000013E6FD	0	NA	ENST00000301295		ENSG00000160505	22943		77	0.55		HGNC	p.G145W		NLRP4		SNV							ENST00000301295	protein_coding	getma.org/?cm=var&var=hg19,19,56369192,G,T&fts=all		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		G/W		T	neutral	855/3670		getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=91&re=148&var=G145W	tolerated(0.06)	K7ES09_HUMAN			YES	NLRP4,missense_variant,p.Gly145Trp,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Gly145Trp,ENST00000346986,;NLRP4,missense_variant,p.Gly70Trp,ENST00000587891,;NLRP4,missense_variant,p.Gly145Trp,ENST00000587464,;NLRP4,upstream_gene_variant,,ENST00000589437,;							MODERATE	433/2985	G145W	NALP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000301295		CCDS12936.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125671849	125671849	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	76	5	.	.	ENST00000431078.1:c.3905G>T	p.Arg1302Leu	p.R1302L	ENST00000431078	NM_130773.3	1302	cGg/cTg	0	1	1	UPI0000071988	0	NA	ENST00000431078		ENSG00000155052	18748		81	2.2		HGNC	p.R1302L		CNTNAP5		SNV							ENST00000431078	protein_coding	getma.org/?cm=var&var=hg19,2,125671849,G,T&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605		R/L		T	medium	4269/5284		getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=1174&re=1306&var=R1302L	deleterious(0)				YES	CNTNAP5,missense_variant,p.Arg1302Leu,ENST00000431078,NM_130773.3;							MODERATE	3905/3921	R1302L	CNTP5_HUMAN			Transcript		possibly_damaging(0.749)	.	ENSP00000399013		CCDS46401.1			1	
KDM5A	0	LGGM	GRCh37	12	420095	420095	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	89	5	.	.	ENST00000399788.2:c.3172G>T	p.Gly1058Trp	p.G1058W	ENST00000399788	NM_001042603.1	1058	Ggg/Tgg	0	1	1	UPI0000DB2E73	0	NA	ENST00000399788		ENSG00000073614	9886		94	0.895		HGNC	p.G677W		KDM5A		SNV							ENST00000544760	protein_coding	getma.org/?cm=var&var=hg19,12,420095,C,A&fts=all		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Pfam_domain:PF08429		G/W		A	low	3535/10763		getma.org/?cm=msa&ty=f&p=KDM5A_HUMAN&rb=740&re=1072&var=G1058W	deleterious(0)				YES	KDM5A,missense_variant,p.Gly1058Trp,ENST00000399788,NM_001042603.1;KDM5A,missense_variant,p.Gly1058Trp,ENST00000382815,;KDM5A,missense_variant,p.Gly677Trp,ENST00000544760,;KDM5A,non_coding_transcript_exon_variant,,ENST00000535269,;KDM5A,upstream_gene_variant,,ENST00000540156,;							MODERATE	3172/5073	G1058W	KDM5A_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000382688		CCDS41736.1			1	
NAV3	0	LGGM	GRCh37	12	78591080	78591080	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	5	.	.	ENST00000536525.2:c.6279T>C	p.Asn2093=	p.N2093=	ENST00000536525	NM_014903.4	2093	aaT/aaC	0	1		UPI0000E59849	0		ENST00000397909		ENSG00000067798	15998		34			HGNC	p.N2093N		NAV3		SNV							ENST00000536525	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF13173,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		N		C		6518/9821				F8VZV4_HUMAN				NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000228327,;NAV3,synonymous_variant,p.=,ENST00000266692,;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.4;NAV3,synonymous_variant,p.=,ENST00000552895,;NAV3,synonymous_variant,p.=,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000551162,;NAV3,upstream_gene_variant,,ENST00000541270,;NAV3,upstream_gene_variant,,ENST00000547884,;							LOW	6345/7158		NAV3_HUMAN			Transcript			.	ENSP00000381007		CCDS66432.1			1	
OAS3	0	LGGM	GRCh37	12	113386700	113386700	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	32	5	.	.	ENST00000228928.7:c.1064A>T	p.His355Leu	p.H355L	ENST00000228928	NM_006187.2	355	cAc/cTc	0	1	1	UPI000034ECD3	0	NA	ENST00000228928		ENSG00000111331	8088		37	0.805		HGNC	p.H355L		OAS3		SNV							ENST00000228928	protein_coding	getma.org/?cm=var&var=hg19,12,113386700,A,T&fts=all		hmmpanther:PTHR11258:SF4,hmmpanther:PTHR11258		H/L		T	low	1243/6719		getma.org/?cm=msa&ty=f&p=OAS3_HUMAN&rb=346&re=407&var=H355L	deleterious(0.03)				YES	OAS3,missense_variant,p.His355Leu,ENST00000228928,NM_006187.2;OAS3,downstream_gene_variant,,ENST00000548514,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS3,downstream_gene_variant,,ENST00000546638,;OAS3,upstream_gene_variant,,ENST00000546800,;							MODERATE	1064/3264	H355L	OAS3_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000228928		CCDS44981.1			1	
SSH2	0	LGGM	GRCh37	17	27963741	27963741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	46	5	.	.	ENST00000269033.3:c.1426G>T	p.Gly476Trp	p.G476W	ENST00000269033	NM_033389.2	476	Ggg/Tgg	0	1	1	UPI00001D6272	0	NA	ENST00000269033		ENSG00000141298	30580		51	1.525		HGNC	p.G503W		SSH2		SNV							ENST00000540801	protein_coding	getma.org/?cm=var&var=hg19,17,27963741,C,A&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF106		G/W		A	low	1578/9327		getma.org/?cm=msa&ty=f&p=SSH2_HUMAN&rb=446&re=480&var=G476W	deleterious(0)	J3KSQ9_HUMAN			YES	SSH2,missense_variant,p.Gly476Trp,ENST00000269033,NM_033389.2,NM_001282129.1;SSH2,missense_variant,p.Gly503Trp,ENST00000540801,;RNU6-920P,downstream_gene_variant,,ENST00000410926,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.5,upstream_gene_variant,,ENST00000581240,;							MODERATE	1426/4272	G476W	SSH2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000269033		CCDS11253.1			1	
BPTF	0	LGGM	GRCh37	17	65907254	65907254	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	5	.	.	ENST00000306378.6:c.3254A>T	p.Glu1085Val	p.E1085V	ENST00000306378	NM_182641.3	1085	gAg/gTg	0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		34	0.975		HGNC	p.E1085V		BPTF		SNV							ENST00000306378	protein_coding	getma.org/?cm=var&var=hg19,17,65907254,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		E/V		T	low	3693/11292		getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=1038&re=1237&var=E1211V						BPTF,missense_variant,p.Glu1211Val,ENST00000321892,;BPTF,missense_variant,p.Glu1211Val,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Glu1085Val,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Glu1072Val,ENST00000424123,;BPTF,missense_variant,p.Glu1148Val,ENST00000544778,;							MODERATE	3632/9141	E1211V	BPTF_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000315454					1	
CAPN1	0	LGGM	GRCh37	11	64950641	64950641	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	67	5	.	.	ENST00000527323.1:c.310C>A	p.Arg104Ser	p.R104S	ENST00000527323		104	Cgc/Agc	0	1		UPI0000000E05	0	getma.org/pdb.php?prot=CAN1_HUMAN&from=55&to=354&var=R104S	ENST00000279247		ENSG00000014216	1476		72	2.6		HGNC	p.R104S		CAPN1		SNV							ENST00000531068	protein_coding	getma.org/?cm=var&var=hg19,11,64950641,C,A&fts=all		PROSITE_profiles:PS50203,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF284,Pfam_domain:PF00648,SMART_domains:SM00230,Superfamily_domains:SSF54001,Prints_domain:PR00704		R/S		A	medium	453/3007		getma.org/?cm=msa&ty=f&p=CAN1_HUMAN&rb=55&re=354&var=R104S	deleterious(0.02)	E9PSA6_HUMAN,E9PQB3_HUMAN,E9PMC6_HUMAN,E9PLX0_HUMAN,E9PLC9_HUMAN,E9PJJ3_HUMAN,E9PJA6_HUMAN,E9PIA9_HUMAN				CAPN1,missense_variant,p.Arg104Ser,ENST00000527323,;CAPN1,missense_variant,p.Arg104Ser,ENST00000533820,NM_001198868.1;CAPN1,missense_variant,p.Arg104Ser,ENST00000279247,NM_005186.3;CAPN1,missense_variant,p.Arg104Ser,ENST00000524773,NM_001198869.1;CAPN1,missense_variant,p.Arg104Ser,ENST00000533129,;CAPN1,missense_variant,p.Arg104Ser,ENST00000529133,;CAPN1,missense_variant,p.Arg104Ser,ENST00000527739,;CAPN1,missense_variant,p.Arg104Ser,ENST00000534373,;CAPN1,missense_variant,p.Arg104Ser,ENST00000533909,;CAPN1,missense_variant,p.Arg104Ser,ENST00000528396,;CAPN1,missense_variant,p.Arg104Ser,ENST00000527699,;CAPN1,missense_variant,p.Arg104Ser,ENST00000526966,;CAPN1,missense_variant,p.Arg104Ser,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.Arg104Ser,ENST00000526954,;CAPN1,non_coding_transcript_exon_variant,,ENST00000530442,;CAPN1,upstream_gene_variant,,ENST00000527897,;CAPN1,upstream_gene_variant,,ENST00000533079,;AP003068.23,upstream_gene_variant,,ENST00000528551,;							MODERATE	310/2145	R104S	CAN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000279247		CCDS44644.1			1	
LMO1	0	LGGM	GRCh37	11	8246244	8246244	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	31	5	.	.	ENST00000335790.3:c.390C>A	p.Phe130Leu	p.F130L	ENST00000335790	NM_002315.2	130	ttC/ttA	0	1	1	UPI0000133883	0	getma.org/pdb.php?prot=RBTN1_HUMAN&from=88&to=146&var=F130L	ENST00000335790		ENSG00000166407	6641		36	1.3		HGNC	p.F129L		LMO1		SNV							ENST00000428101	protein_coding	getma.org/?cm=var&var=hg19,11,8246244,G,T&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24208,Gene3D:2.10.110.10,Pfam_domain:PF00412,SMART_domains:SM00132		F/L		T	low	886/1279		getma.org/?cm=msa&ty=f&p=RBTN1_HUMAN&rb=88&re=146&var=F130L	tolerated(0.38)	E9PK83_HUMAN			YES	LMO1,missense_variant,p.Phe130Leu,ENST00000335790,NM_002315.2;LMO1,missense_variant,p.Phe129Leu,ENST00000428101,NM_001270428.1;LMO1,missense_variant,p.Phe119Leu,ENST00000534484,;LMO1,non_coding_transcript_exon_variant,,ENST00000524379,;							MODERATE	390/471	F130L	RBTN1_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000338207		CCDS44534.1			1	
KLK3	0	LGGM	GRCh37	19	51362800	51362800	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	28	5	.	.	ENST00000326003.2:c.631-428C>A		*211*	ENST00000326003	NM_001030047.1			0	1	1	UPI0000001C9E	0		ENST00000326003		ENSG00000142515	6364		33			HGNC	p.I172I		KLK3		SNV							ENST00000597483	protein_coding							A		-/1463				Q6LDS3_HUMAN,Q546G3_HUMAN			YES	KLK3,synonymous_variant,p.=,ENST00000360617,;KLK3,synonymous_variant,p.=,ENST00000597483,;KLK3,intron_variant,,ENST00000326003,NM_001030047.1,NM_001648.2,NM_001030048.1;KLK3,intron_variant,,ENST00000595952,;KLK3,intron_variant,,ENST00000598145,;KLK3,downstream_gene_variant,,ENST00000593997,;KLK3,downstream_gene_variant,,ENST00000601503,;KLK3,downstream_gene_variant,,ENST00000597286,;KLK2,upstream_gene_variant,,ENST00000593493,;KLK3,intron_variant,,ENST00000601349,;KLK3,intron_variant,,ENST00000596333,;KLK3,intron_variant,,ENST00000422986,;KLK3,intron_variant,,ENST00000601812,;KLK3,intron_variant,,ENST00000596185,;KLK3,intron_variant,,ENST00000595392,;KLK3,downstream_gene_variant,,ENST00000595151,;							MODIFIER	-/786		KLK3_HUMAN			Transcript			.	ENSP00000314151		CCDS12807.1			1	
EXTL2	0	LGGM	GRCh37	1	101339539	101339539	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	75	5	.	.	ENST00000370114.3:c.952C>A	p.Gln318Lys	p.Q318K	ENST00000370114	NM_001261440.1	318	Cag/Aag	0	1		UPI000012A35B	0	getma.org/pdb.php?prot=EXTL2_HUMAN&from=66&to=321&var=Q318K	ENST00000370113		ENSG00000162694	3516		80	2.25		HGNC	p.Q318K		EXTL2		SNV							ENST00000370114	protein_coding	getma.org/?cm=var&var=hg19,1,101339539,G,T&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF09258,hmmpanther:PTHR11062,Superfamily_domains:SSF53448		Q/K		T	medium	1239/2835		getma.org/?cm=msa&ty=f&p=EXTL2_HUMAN&rb=66&re=321&var=Q318K	deleterious_low_confidence(0)	Q8N8F1_HUMAN,O00245_HUMAN,F5GZK1_HUMAN,C9IYF5_HUMAN				EXTL2,missense_variant,p.Gln318Lys,ENST00000370114,NM_001261440.1,NM_001033025.2;EXTL2,missense_variant,p.Gln318Lys,ENST00000370113,NM_001439.3;EXTL2,missense_variant,p.Gln305Lys,ENST00000535414,;EXTL2,downstream_gene_variant,,ENST00000450240,;EXTL2,downstream_gene_variant,,ENST00000416479,;							MODERATE	952/993	Q318K	EXTL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359131		CCDS775.1			1	
ZNF562	0	LGGM	GRCh37	19	9768771	9768771	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	93	5	.	.	ENST00000448622.1:c.155C>A	p.Pro52Gln	p.P52Q	ENST00000448622	NM_001130032.1	52	cCa/cAa	0	1		UPI000067CA26	0	getma.org/pdb.php?prot=ZN562_HUMAN&from=41&to=81&var=P52Q	ENST00000453372		ENSG00000171466	25950		98	-0.285		HGNC	p.P52Q		ZNF562		SNV							ENST00000590155	protein_coding	getma.org/?cm=var&var=hg19,19,9768771,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF7,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		P/Q		T	neutral	315/2111		getma.org/?cm=msa&ty=f&p=ZN562_HUMAN&rb=41&re=81&var=P52Q	tolerated(1)	K7ELE4_HUMAN,B4E2P7_HUMAN				ZNF562,missense_variant,p.Pro52Gln,ENST00000448622,NM_001130032.1,NM_001130031.1;ZNF562,missense_variant,p.Pro52Gln,ENST00000453372,;ZNF562,missense_variant,p.Pro15Gln,ENST00000541032,;ZNF562,missense_variant,p.Pro52Gln,ENST00000590155,;ZNF562,missense_variant,p.Pro15Gln,ENST00000588653,;ZNF562,missense_variant,p.Pro52Gln,ENST00000587392,;ZNF562,missense_variant,p.Pro52Gln,ENST00000589542,;ZNF562,5_prime_UTR_variant,,ENST00000453792,;ZNF562,intron_variant,,ENST00000293648,NM_017656.3;ZNF562,intron_variant,,ENST00000537617,;ZNF562,downstream_gene_variant,,ENST00000585350,;ZNF562,intron_variant,,ENST00000585688,;							MODERATE	155/1281	P52Q	ZN562_HUMAN			Transcript		benign(0.031)	.	ENSP00000410734		CCDS45956.1			1	
OR1G1	0	LGGM	GRCh37	17	3030654	3030654	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	56	5	.	.	ENST00000328890.2:c.192C>T	p.Ala64=	p.A64=	ENST00000328890	NM_003555.1	64	gcC/gcT	0	1	1	UPI0000041B68	0		ENST00000328890		ENSG00000183024	8204		61			HGNC	p.A64A		OR1G1		SNV							ENST00000328890	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF247,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		A		222/998							YES	OR1G1,synonymous_variant,p.=,ENST00000328890,NM_003555.1;							LOW	192/942		OR1G1_HUMAN			Transcript			.	ENSP00000331545		CCDS11020.1			1	
ZNF142	0	LGGM	GRCh37	2	219515234	219515234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	83	5	.	.	ENST00000411696.2:c.296C>A	p.Pro99Gln	p.P99Q	ENST00000411696		99	cCa/cAa	0	1	1	UPI000013D5FC	0	NA	ENST00000411696		ENSG00000115568	12927		88	0.695		HGNC	p.P99Q		ZNF142		SNV							ENST00000449707	protein_coding	getma.org/?cm=var&var=hg19,2,219515234,G,T&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43		P/Q		T	neutral	1076/6034		getma.org/?cm=msa&ty=f&p=ZN142_HUMAN&rb=1&re=119&var=P99Q	tolerated(0.06)	C9J055_HUMAN			YES	ZNF142,missense_variant,p.Pro99Gln,ENST00000411696,;ZNF142,missense_variant,p.Pro99Gln,ENST00000449707,NM_001105537.2;ZNF142,missense_variant,p.Pro291Gln,ENST00000440934,;ZNF142,3_prime_UTR_variant,,ENST00000450765,;ZNF142,3_prime_UTR_variant,,ENST00000433921,;							MODERATE	296/5064	P99Q	ZN142_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000398798		CCDS42817.1			1	
RCN3	0	LGGM	GRCh37	19	50040394	50040394	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	6	.	.	ENST00000270645.3:c.550A>T	p.Thr184Ser	p.T184S	ENST00000270645	NM_020650.2	184	Act/Tct	0	1	1	UPI000000D8C5	0	NA	ENST00000270645		ENSG00000142552	21145		50	1.595		HGNC	p.T184S		RCN3		SNV							ENST00000270645	protein_coding	getma.org/?cm=var&var=hg19,19,50040394,A,T&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR10827:SF47,hmmpanther:PTHR10827,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		T/S		T	low	997/1859		getma.org/?cm=msa&ty=f&p=RCN3_HUMAN&rb=163&re=198&var=T184S	tolerated(0.13)				YES	RCN3,missense_variant,p.Thr184Ser,ENST00000270645,NM_020650.2;RCN3,missense_variant,p.Thr133Ser,ENST00000598833,;RCN3,downstream_gene_variant,,ENST00000597801,;RCN3,downstream_gene_variant,,ENST00000593644,;							MODERATE	550/987	T184S	RCN3_HUMAN			Transcript		benign(0.063)	.	ENSP00000270645		CCDS12771.1			1	
OVCH1	0	LGGM	GRCh37	12	29642644	29642644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	52	6	.	.	ENST00000318184.5:c.611G>T	p.Cys204Phe	p.C204F	ENST00000318184	NM_183378.2	204	tGt/tTt	0	1	1	UPI000040640A	0	getma.org/pdb.php?prot=OVCH1_HUMAN&from=47&to=291&var=C204F	ENST00000318184		ENSG00000187950	23080		58	3.955		HGNC	p.C204F		OVCH1		SNV							ENST00000318184	protein_coding	getma.org/?cm=var&var=hg19,12,29642644,C,A&fts=all		PROSITE_profiles:PS50240,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		C/F		A	high	611/3405		getma.org/?cm=msa&ty=f&p=OVCH1_HUMAN&rb=47&re=291&var=C204F	deleterious(0)				YES	OVCH1,missense_variant,p.Cys204Phe,ENST00000318184,NM_183378.2;OVCH1-AS1,downstream_gene_variant,,ENST00000551108,;OVCH1-AS1,downstream_gene_variant,,ENST00000549411,;							MODERATE	611/3405	C204F	OVCH1_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000326708					1	
SKAP2	0	LGGM	GRCh37	7	26765582	26765582	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	6	.	.	ENST00000345317.2:c.618T>C	p.Asp206=	p.D206=	ENST00000345317	NM_003930.3	206	gaT/gaC	0	1	1	UPI0000073C8C	0		ENST00000345317		ENSG00000005020	15687		36			HGNC	p.D206D		SKAP2		SNV							ENST00000345317	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR15129:SF2,hmmpanther:PTHR15129,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		D		G		932/3998				B7Z5R3_HUMAN			YES	SKAP2,synonymous_variant,p.=,ENST00000345317,NM_003930.3;SKAP2,synonymous_variant,p.=,ENST00000539623,;SKAP2,non_coding_transcript_exon_variant,,ENST00000489977,;SKAP2,downstream_gene_variant,,ENST00000495802,;SKAP2,downstream_gene_variant,,ENST00000468712,;							LOW	618/1080		SKAP2_HUMAN			Transcript			.	ENSP00000005587		CCDS5400.1			1	
NOL11	0	LGGM	GRCh37	17	65735645	65735645	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	6	.	.	ENST00000253247.4:c.1856A>G	p.Tyr619Cys	p.Y619C	ENST00000253247	NM_015462.3	619	tAt/tGt	0	1	1	UPI0000072B83	0	NA	ENST00000253247		ENSG00000130935	24557		39	2.36		HGNC	p.Y619C		NOL11		SNV							ENST00000253247	protein_coding	getma.org/?cm=var&var=hg19,17,65735645,A,G&fts=all		hmmpanther:PTHR15633,hmmpanther:PTHR15633:SF2,Low_complexity_(Seg):seg		Y/C		G	medium	1971/2947		getma.org/?cm=msa&ty=f&p=NOL11_HUMAN&rb=244&re=717&var=Y619C	deleterious(0)				YES	NOL11,missense_variant,p.Tyr619Cys,ENST00000253247,NM_015462.3;NOL11,missense_variant,p.Tyr437Cys,ENST00000535137,;NOL11,downstream_gene_variant,,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,upstream_gene_variant,,ENST00000584032,;NOL11,downstream_gene_variant,,ENST00000577687,;							MODERATE	1856/2160	Y619C	NOL11_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000253247		CCDS11671.1			1	
ABCA12	0	LGGM	GRCh37	2	215940330	215940330	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	58	6	.	.	ENST00000272895.7:c.164-11388T>C		*55*	ENST00000272895	NM_173076.2			0	1	1	UPI000019AB7A	0		ENST00000272895		ENSG00000144452	14637		64			HGNC	p.S58S		ABCA12		SNV			1				ENST00000412081	protein_coding							G		-/9100				A0SYP7_HUMAN			YES	ABCA12,synonymous_variant,p.=,ENST00000412081,;ABCA12,intron_variant,,ENST00000272895,NM_173076.2;							MODIFIER	-/7788		ABCAC_HUMAN			Transcript			.	ENSP00000272895		CCDS33372.1			1	
PHLPP1	0	LGGM	GRCh37	18	60646469	60646469	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	27	6	.	.	ENST00000262719.5:c.4959T>A	p.Ala1653=	p.A1653=	ENST00000262719		1653	gcT/gcA	0	1	1	UPI000051AE2E	0		ENST00000262719		ENSG00000081913	20610		33			HGNC	p.A1653A		PHLPP1		SNV							ENST00000262719	protein_coding			Low_complexity_(Seg):seg		A		A		5193/6390							YES	PHLPP1,synonymous_variant,p.=,ENST00000400316,NM_194449.3;PHLPP1,synonymous_variant,p.=,ENST00000262719,;							LOW	4959/5154		PHLP1_HUMAN			Transcript			.	ENSP00000262719		CCDS45881.2			1	
POLE	0	LGGM	GRCh37	12	133214667	133214667	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	24	6	.	.	ENST00000320574.5:c.5611A>T	p.Ile1871Phe	p.I1871F	ENST00000320574	NM_006231.2	1871	Atc/Ttc	0	1	1	UPI00001FBF97	0	NA	ENST00000320574		ENSG00000177084	9177		30	2.88		HGNC	p.I1882F		POLE		SNV			1				ENST00000455752	protein_coding	getma.org/?cm=var&var=hg19,12,133214667,T,A&fts=all		hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0,Pfam_domain:PF08490		I/F		A	medium	5655/7840		getma.org/?cm=msa&ty=f&p=DPOE1_HUMAN&rb=1525&re=1925&var=I1871F	deleterious(0)	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN			YES	POLE,missense_variant,p.Ile1871Phe,ENST00000320574,NM_006231.2;POLE,missense_variant,p.Ile1844Phe,ENST00000535270,;POLE,non_coding_transcript_exon_variant,,ENST00000434528,;POLE,upstream_gene_variant,,ENST00000544870,;POLE,upstream_gene_variant,,ENST00000441786,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000541213,;POLE,upstream_gene_variant,,ENST00000544692,;POLE,upstream_gene_variant,,ENST00000544414,;POLE,upstream_gene_variant,,ENST00000416953,;POLE,downstream_gene_variant,,ENST00000542362,;							MODERATE	5611/6861	I1871F	DPOE1_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000322570		CCDS9278.1			1	
FKBP9	0	LGGM	GRCh37	7	33044889	33044889	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	133	6	.	.	ENST00000242209.4:c.1639C>A	p.Arg547=	p.R547=	ENST00000242209	NM_007270.3	547	Cgg/Agg	0	1	1	UPI00001B6B0A	0		ENST00000242209		ENSG00000122642	3725		139			HGNC	p.R600R		FKBP9		SNV							ENST00000538336	protein_coding			Gene3D:1.10.238.10,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR10516,hmmpanther:PTHR10516:SF111,SMART_domains:SM00054,Superfamily_domains:SSF47473		R		A		1808/3462				B7ZAH5_HUMAN,B7Z230_HUMAN,A7YQ73_HUMAN			YES	FKBP9,synonymous_variant,p.=,ENST00000242209,NM_007270.3;FKBP9,synonymous_variant,p.=,ENST00000538336,NM_001284341.1;FKBP9,synonymous_variant,p.=,ENST00000538443,;FKBP9,synonymous_variant,p.=,ENST00000490776,NM_001284343.1;AVL9,intron_variant,,ENST00000404479,;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,;							LOW	1639/1713		FKBP9_HUMAN			Transcript			.	ENSP00000242209		CCDS5439.1			1	
EPX	0	LGGM	GRCh37	17	56270401	56270401	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	25	6	.	.	ENST00000225371.5:c.79T>A	p.Ser27Thr	p.S27T	ENST00000225371	NM_000502.4	27	Tcc/Acc	0	1	1	UPI0000131629	0	NA	ENST00000225371		ENSG00000121053	3423		31	1.79		HGNC	p.S27T		EPX		SNV			1				ENST00000225371	protein_coding	getma.org/?cm=var&var=hg19,17,56270401,T,A&fts=all		hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49		S/T		A	low	189/2708		getma.org/?cm=msa&ty=f&p=PERE_HUMAN&rb=1&re=144&var=S27T	tolerated(0.63)				YES	EPX,missense_variant,p.Ser27Thr,ENST00000225371,NM_000502.4;							MODERATE	79/2148	S27T	PERE_HUMAN			Transcript		benign(0.001)	.	ENSP00000225371		CCDS11602.1			1	
QRICH2	0	LGGM	GRCh37	17	74276526	74276526	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	6	.	.	ENST00000262765.5:c.3970G>A	p.Asp1324Asn	p.D1324N	ENST00000262765	NM_032134.1	1324	Gac/Aac	0	1	1	UPI000006FECD	0	NA	ENST00000262765		ENSG00000129646	25326		36	1.475		HGNC	p.D1324N	rs780060311	QRICH2		SNV				0.000483			ENST00000262765	protein_coding	getma.org/?cm=var&var=hg19,17,74276526,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23343,hmmpanther:PTHR23343:SF78		D/N		T	low	4150/5359		getma.org/?cm=msa&ty=f&p=QRIC2_HUMAN&rb=1321&re=1662&var=D1324N	deleterious(0.04)				YES	QRICH2,missense_variant,p.Asp1324Asn,ENST00000262765,NM_032134.1;QRICH2,missense_variant,p.Asp332Asn,ENST00000447564,;QRICH2,upstream_gene_variant,,ENST00000532549,;QRICH2,3_prime_UTR_variant,,ENST00000524722,;	0.000116						MODERATE	3970/4992	D1324N	QRIC2_HUMAN			Transcript		possibly_damaging(0.534)	common_variant	ENSP00000262765	4.94E-05	CCDS32741.1			1	
NRBP1	0	LGGM	GRCh37	2	27658055	27658055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	6	.	.	ENST00000233557.3:c.622A>G	p.Ile208Val	p.I208V	ENST00000233557		208	Atc/Gtc	0	1	1	UPI0000035B7E	0	getma.org/pdb.php?prot=NRBP_HUMAN&from=80&to=327&var=I208V	ENST00000233557		ENSG00000115216	7993		40	2.01		HGNC	p.I208V		NRBP1		SNV							ENST00000379852	protein_coding	getma.org/?cm=var&var=hg19,2,27658055,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF48,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		I/V		G	medium	1454/2887		getma.org/?cm=msa&ty=f&p=NRBP_HUMAN&rb=80&re=327&var=I208V	tolerated(0.11)	C9JHZ6_HUMAN,C9JDW7_HUMAN			YES	NRBP1,missense_variant,p.Ile208Val,ENST00000233557,;NRBP1,missense_variant,p.Ile208Val,ENST00000379863,;NRBP1,missense_variant,p.Ile208Val,ENST00000379852,NM_013392.2;NRBP1,downstream_gene_variant,,ENST00000419281,;NRBP1,downstream_gene_variant,,ENST00000356442,;NRBP1,non_coding_transcript_exon_variant,,ENST00000493746,;NRBP1,upstream_gene_variant,,ENST00000460499,;NRBP1,downstream_gene_variant,,ENST00000493768,;							MODERATE	622/1608	I208V	NRBP_HUMAN			Transcript		benign(0.078)	.	ENSP00000233557		CCDS1753.1			1	
CPEB1	0	LGGM	GRCh37	15	83226572	83226572	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	16	7	.	.	ENST00000568128.1:c.544A>T	p.Ser182Cys	p.S182C	ENST00000568128	NM_030594.3	182	Agc/Tgc	0	1	1	UPI000018CEBD	0	NA	ENST00000568128		ENSG00000214575	21744		23	0.895		HGNC	p.S107C		CPEB1		SNV							ENST00000568757	protein_coding	getma.org/?cm=var&var=hg19,15,83226572,T,A&fts=all		hmmpanther:PTHR12566,Low_complexity_(Seg):seg		S/C		A	low	651/2112		getma.org/?cm=msa&ty=f&p=CPEB1_HUMAN&rb=1&re=200&var=S182C	deleterious(0)	H3BPD6_HUMAN,H3BNX1_HUMAN,G8JLI7_HUMAN			YES	CPEB1,missense_variant,p.Ser209Cys,ENST00000563800,;CPEB1,missense_variant,p.Ser107Cys,ENST00000450751,NM_001288819.1;CPEB1,missense_variant,p.Ser182Cys,ENST00000562019,;CPEB1,missense_variant,p.Ser107Cys,ENST00000398591,NM_001079534.1,NM_001079533.1,NM_001079535.1;CPEB1,missense_variant,p.Ser107Cys,ENST00000568757,;CPEB1,missense_variant,p.Ser182Cys,ENST00000568128,NM_030594.3;CPEB1,missense_variant,p.Ser107Cys,ENST00000423133,;CPEB1,missense_variant,p.Ser185Cys,ENST00000261723,;CPEB1,missense_variant,p.Ser107Cys,ENST00000564522,;CPEB1,missense_variant,p.Ser107Cys,ENST00000568994,;CPEB1,intron_variant,,ENST00000398592,;RP11-379H8.1,intron_variant,,ENST00000568285,;RP11-152F13.10,upstream_gene_variant,,ENST00000562833,;CPEB1,non_coding_transcript_exon_variant,,ENST00000570205,;CPEB1,intron_variant,,ENST00000570229,;CPEB1,upstream_gene_variant,,ENST00000569015,;							MODERATE	544/1686	S182C	CPEB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000457881		CCDS45329.1			1	
PXDN	0	LGGM	GRCh37	2	1647271	1647271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	63	7	.	.	ENST00000252804.4:c.3821T>A	p.Leu1274Gln	p.L1274Q	ENST00000252804	NM_012293.1	1274	cTa/cAa	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=741&to=1289&var=L1274Q	ENST00000252804		ENSG00000130508	14966		70	3.46		HGNC	p.L1274Q		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1647271,A,T&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457		L/Q		T	medium	3872/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=741&re=1289&var=L1274Q	deleterious(0)				YES	PXDN,missense_variant,p.Leu1274Gln,ENST00000252804,NM_012293.1;PXDN,non_coding_transcript_exon_variant,,ENST00000477093,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;PXDN,upstream_gene_variant,,ENST00000453308,;							MODERATE	3821/4440	L1274Q	PXDN_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000252804		CCDS46221.1			1	
IGLV5-52	0	LGGM	GRCh37	22	22673355	22673355	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	121	7	.	.	ENST00000390289.2:c.148G>T	p.Gly50Trp	p.G50W	ENST00000390289		50	Ggg/Tgg	0	1	1	UPI0001611019	0		ENST00000390289		ENSG00000211643	5926		128			HGNC	p.G50W		IGLV5-52		SNV							ENST00000390289	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF147,hmmpanther:PTHR23267,PROSITE_profiles:PS50835		G/W		T		153/379			deleterious(0)	A2MYD1_HUMAN			YES	IGLV5-52,missense_variant,p.Gly50Trp,ENST00000390289,;IGLV1-51,upstream_gene_variant,,ENST00000390290,;BMS1P20,non_coding_transcript_exon_variant,,ENST00000426066,;							MODERATE	148/374					Transcript		probably_damaging(0.998)	.	ENSP00000374824					1	
PTCHD2	0	LGGM	GRCh37	1	11561185	11561185	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	13	7	.	.	ENST00000294484.6:c.136T>A	p.Trp46Arg	p.W46R	ENST00000294484	NM_020780.1	46	Tgg/Agg	0	1	1	UPI00001C1D7A	0	NA	ENST00000294484		ENSG00000204624	29251		20	0.55		HGNC	p.W46R		PTCHD2		SNV							ENST00000294484	protein_coding	getma.org/?cm=var&var=hg19,1,11561185,T,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF49		W/R		A	neutral	274/5215		getma.org/?cm=msa&ty=f&p=PTHD2_HUMAN&rb=1&re=55&var=W46R	tolerated_low_confidence(0.15)				YES	PTCHD2,missense_variant,p.Trp46Arg,ENST00000294484,NM_020780.1;PTCHD2,missense_variant,p.Trp46Arg,ENST00000389575,;							MODERATE	136/4179	W46R	PTHD2_HUMAN			Transcript		benign(0.025)	.	ENSP00000294484		CCDS41247.1			1	
KMT2D	0	LGGM	GRCh37	12	49418451	49418451	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	47	7	.	.	ENST00000301067.7:c.15962A>T	p.Tyr5321Phe	p.Y5321F	ENST00000301067	NM_003482.3	5321	tAt/tTt	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		54	1.65		HGNC	p.Y5321F		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49418451,T,A&fts=all		Pfam_domain:PF05965,PROSITE_profiles:PS51543,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,SMART_domains:SM00542		Y/F		A	low	15962/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=5236&re=5323&var=Y5321F		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Tyr5321Phe,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000526209,;							MODERATE	15962/16614	Y5321F	KMT2D_HUMAN			Transcript		unknown(0)	.	ENSP00000301067		CCDS44873.1			1	
KDR	0	LGGM	GRCh37	4	55981158	55981158	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	25	7	.	.	ENST00000263923.4:c.541A>T	p.Ser181Cys	p.S181C	ENST00000263923	NM_002253.2	181	Agc/Tgc	0	1	1	UPI000003AE04	0	getma.org/pdb.php?prot=VGFR2_HUMAN&from=141&to=207&var=S181C	ENST00000263923		ENSG00000128052	6307		32	2.08		HGNC	p.S181C		KDR		SNV			1				ENST00000263923	protein_coding	getma.org/?cm=var&var=hg19,4,55981158,T,A&fts=all		Gene3D:2.60.40.10,Prints_domain:PR01832,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/C		A	medium	837/5831		getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=141&re=207&var=S181C	deleterious(0.02)	B4DEK3_HUMAN			YES	KDR,missense_variant,p.Ser181Cys,ENST00000263923,NM_002253.2;KDR,non_coding_transcript_exon_variant,,ENST00000512566,;							MODERATE	541/4071	S181C	VGFR2_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000263923		CCDS3497.1			1	
CPM	0	LGGM	GRCh37	12	69264176	69264176	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	42	7	.	.	ENST00000551568.1:c.435A>G	p.Glu145=	p.E145=	ENST00000551568	NM_001005502.2	145	gaA/gaG	0	1		UPI00001271D4	0		ENST00000338356		ENSG00000135678	2311		49			HGNC	p.E145E		CPM		SNV							ENST00000548954	protein_coding			Superfamily_domains:SSF53187,SMART_domains:SM00631,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532:SF53,hmmpanther:PTHR11532		E		C		482/6636				H0YHG6_HUMAN,F8W111_HUMAN,F8VVI6_HUMAN				CPM,synonymous_variant,p.=,ENST00000551568,NM_001005502.2,NM_198320.3;CPM,synonymous_variant,p.=,ENST00000338356,;CPM,synonymous_variant,p.=,ENST00000546373,NM_001874.4;CPM,synonymous_variant,p.=,ENST00000548954,;CPM,upstream_gene_variant,,ENST00000551897,;CPM,downstream_gene_variant,,ENST00000548262,;CPM,3_prime_UTR_variant,,ENST00000551728,;CPM,3_prime_UTR_variant,,ENST00000547134,;CPM,upstream_gene_variant,,ENST00000546912,;CPM,downstream_gene_variant,,ENST00000547924,;							LOW	435/1332		CBPM_HUMAN			Transcript			.	ENSP00000339157		CCDS8987.1			1	
MDFI	0	LGGM	GRCh37	6	41621067	41621067	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	28	7	.	.	ENST00000230321.6:c.495C>A	p.Val165=	p.V165=	ENST00000230321	NM_005586.3	165	gtC/gtA	0	1	1	UPI000012EE0C	0		ENST00000230321		ENSG00000112559	6967		35			HGNC	p.V165V		MDFI		SNV							ENST00000230321	protein_coding			hmmpanther:PTHR15304:SF1,hmmpanther:PTHR15304,Pfam_domain:PF15316		V		A		712/1629				B1AKC1_HUMAN,B1AKC0_HUMAN,B1AKB8_HUMAN,B1AKB7_HUMAN			YES	MDFI,synonymous_variant,p.=,ENST00000230321,NM_005586.3;MDFI,synonymous_variant,p.=,ENST00000373051,;MDFI,synonymous_variant,p.=,ENST00000419164,;MDFI,synonymous_variant,p.=,ENST00000373050,;MDFI,synonymous_variant,p.=,ENST00000432027,;MDFI,synonymous_variant,p.=,ENST00000435476,;MDFI,downstream_gene_variant,,ENST00000446650,;MDFI,downstream_gene_variant,,ENST00000441667,;MDFI,downstream_gene_variant,,ENST00000471092,;							LOW	495/741		MDFI_HUMAN			Transcript			.	ENSP00000230321		CCDS4857.1			1	
THEM5	0	LGGM	GRCh37	1	151819888	151819888	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	76	7	.	.	ENST00000368817.5:c.703G>A	p.Val235Ile	p.V235I	ENST00000368817	NM_182578.3	235	Gtt/Att	0	1	1	UPI000013E246	0	getma.org/pdb.php?prot=THEM5_HUMAN&from=230&to=247&var=V235I	ENST00000368817		ENSG00000196407	26755		83	0.145		HGNC	p.V235I		THEM5		SNV							ENST00000368817	protein_coding	getma.org/?cm=var&var=hg19,1,151819888,C,T&fts=all		Gene3D:3.10.129.10,hmmpanther:PTHR12418,hmmpanther:PTHR12418:SF9,Superfamily_domains:SSF54637		V/I		T	neutral	835/984		getma.org/?cm=msa&ty=f&p=THEM5_HUMAN&rb=200&re=247&var=V235I	tolerated(0.13)				YES	THEM5,missense_variant,p.Val235Ile,ENST00000368817,NM_182578.3;THEM5,missense_variant,p.Cys76Tyr,ENST00000453881,;AL450992.2,intron_variant,,ENST00000434182,;							MODERATE	703/744	V235I	ACO15_HUMAN			Transcript		benign(0.015)	.	ENSP00000357807		CCDS1005.1			1	
GRM3	0	LGGM	GRCh37	7	86394801	86394801	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	67	7	.	.	ENST00000361669.2:c.340A>T	p.Arg114Trp	p.R114W	ENST00000361669	NM_000840.2	114	Agg/Tgg	0	1	1	UPI0000153EFC	0	getma.org/pdb.php?prot=GRM3_HUMAN&from=67&to=473&var=R114W	ENST00000361669		ENSG00000198822	4595		74	3.03		HGNC	p.R114W		GRM3		SNV							ENST00000361669	protein_coding	getma.org/?cm=var&var=hg19,7,86394801,A,T&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR24060,Superfamily_domains:SSF53822		R/W		T	medium	1439/4268		getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=67&re=473&var=R114W	deleterious(0)	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN			YES	GRM3,missense_variant,p.Arg114Trp,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Arg112Trp,ENST00000394720,;GRM3,missense_variant,p.Arg114Trp,ENST00000439827,;GRM3,intron_variant,,ENST00000536043,;GRM3,intron_variant,,ENST00000546348,;GRM3,intron_variant,,ENST00000454217,;GRM3,downstream_gene_variant,,ENST00000421579,;GRM3,downstream_gene_variant,,ENST00000441140,;							MODERATE	340/2640	R114W	GRM3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000355316		CCDS5600.1			1	
A2ML1	0	LGGM	GRCh37	12	8994042	8994042	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	7	.	.	ENST00000299698.7:c.1158C>A	p.Thr386=	p.T386=	ENST00000299698	NM_144670.4	386	acC/acA	0	1	1	UPI000022904E	0		ENST00000299698		ENSG00000166535	23336		51			HGNC	p.T386T		A2ML1		SNV			1				ENST00000299698	protein_coding			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF79		T		A		1338/5274				H0YGG5_HUMAN			YES	A2ML1,synonymous_variant,p.=,ENST00000299698,NM_144670.4,NM_001282424.1;A2ML1,upstream_gene_variant,,ENST00000539547,;A2ML1,upstream_gene_variant,,ENST00000541459,;A2ML1,upstream_gene_variant,,ENST00000545692,;A2ML1,upstream_gene_variant,,ENST00000536789,;A2ML1,upstream_gene_variant,,ENST00000540049,;							LOW	1158/4365		A2ML1_HUMAN			Transcript			.	ENSP00000299698		CCDS8596.2			1	
NAV2	0	LGGM	GRCh37	11	20119154	20119154	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	50	7	.	.	ENST00000396087.3:c.6221A>T	p.Gln2074Leu	p.Q2074L	ENST00000396087	NM_001244963.1	2074	cAg/cTg	0	1	1	UPI00001E0580	0	NA	ENST00000396087		ENSG00000166833	15997		57	1.245		HGNC	p.Q2018L		NAV2		SNV							ENST00000396085	protein_coding	getma.org/?cm=var&var=hg19,11,20119154,A,T&fts=all		hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		Q/L		T	low	6320/7882		getma.org/?cm=msa&ty=f&p=NAV2_HUMAN&rb=2029&re=2228&var=Q2074L	deleterious(0)				YES	NAV2,missense_variant,p.Gln2018Leu,ENST00000396085,NM_182964.5;NAV2,missense_variant,p.Gln2015Leu,ENST00000349880,NM_145117.4;NAV2,missense_variant,p.Gln1951Leu,ENST00000360655,NM_001111018.1;NAV2,missense_variant,p.Gln2005Leu,ENST00000540292,;NAV2,missense_variant,p.Gln2003Leu,ENST00000527559,;NAV2,missense_variant,p.Gln2074Leu,ENST00000396087,NM_001244963.1;NAV2,missense_variant,p.Gln1079Leu,ENST00000311043,;NAV2,missense_variant,p.Gln1079Leu,ENST00000533917,NM_001111019.2;							MODERATE	6221/7467	Q2074L	NAV2_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000379396		CCDS58126.1			1	
DAW1	0	LGGM	GRCh37	2	228783524	228783524	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	49	8	.	.	ENST00000309931.2:c.1002A>C	p.Thr334=	p.T334=	ENST00000309931	NM_178821.1	334	acA/acC	0	1	1	UPI000006EAC6	0		ENST00000309931		ENSG00000123977	26383		57			HGNC	p.T334T		DAW1		SNV							ENST00000309931	protein_coding			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		T		C		1085/1704				G5EA46_HUMAN,C9JP90_HUMAN			YES	DAW1,synonymous_variant,p.=,ENST00000309931,NM_178821.1;DAW1,synonymous_variant,p.=,ENST00000545118,;DAW1,3_prime_UTR_variant,,ENST00000373666,;							LOW	1002/1248		DAW1_HUMAN			Transcript			.	ENSP00000311899		CCDS2470.1			1	
ACOX3	0	LGGM	GRCh37	4	8418153	8418153	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	8	.	.	ENST00000356406.5:c.96G>T	p.Trp32Cys	p.W32C	ENST00000356406	NM_003501.2	32	tgG/tgT	0	1	1	UPI000013EEE2	0	NA	ENST00000356406		ENSG00000087008	121		52	2.585		HGNC	p.W32C		ACOX3		SNV							ENST00000356406	protein_coding	getma.org/?cm=var&var=hg19,4,8418153,C,A&fts=all		PIRSF_domain:PIRSF000168,hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF11,Superfamily_domains:SSF56645		W/C		A	medium	174/2860		getma.org/?cm=msa&ty=f&p=ACOX3_HUMAN&rb=1&re=154&var=W32C	deleterious(0)	D6RJ89_HUMAN			YES	ACOX3,missense_variant,p.Trp32Cys,ENST00000356406,NM_003501.2;ACOX3,missense_variant,p.Trp32Cys,ENST00000413009,NM_001101667.1;ACOX3,missense_variant,p.Trp32Cys,ENST00000503233,;ACOX3,intron_variant,,ENST00000514423,;ACOX3,upstream_gene_variant,,ENST00000510365,;							MODERATE	96/2103	W32C	ACOX3_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000348775		CCDS3401.1			1	
ABCA9	0	LGGM	GRCh37	17	67045590	67045590	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	26	8	.	.	ENST00000340001.4:c.138A>T	p.Leu46=	p.L46=	ENST00000340001	NM_080283.3	46	ctA/ctT	0	1	1	UPI00000747B1	0		ENST00000340001		ENSG00000154258	39		34			HGNC	p.L46L		ABCA9		SNV							ENST00000495634	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF12698,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229		L		A		350/6514				K7EJJ0_HUMAN			YES	ABCA9,synonymous_variant,p.=,ENST00000340001,NM_080283.3;ABCA9,synonymous_variant,p.=,ENST00000370732,;ABCA9,synonymous_variant,p.=,ENST00000453985,;ABCA9,synonymous_variant,p.=,ENST00000495634,;ABCA9,synonymous_variant,p.=,ENST00000585714,;ABCA9,upstream_gene_variant,,ENST00000461623,;							LOW	138/4875		ABCA9_HUMAN			Transcript			.	ENSP00000342216		CCDS11681.1			1	
NTPCR	0	LGGM	GRCh37	1	233105790	233105790	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	53	8	.	.	ENST00000366628.5:c.430A>G	p.Ile144Val	p.I144V	ENST00000366628	NM_032324.1	144	Atc/Gtc	0	1	1	UPI00000411DD	0	getma.org/pdb.php?prot=NTPCR_HUMAN&from=4&to=182&var=I144V	ENST00000366628		ENSG00000135778	28204		61	1.825		HGNC	p.I144V		NTPCR		SNV							ENST00000366628	protein_coding	getma.org/?cm=var&var=hg19,1,233105790,A,G&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Gene3D:3.40.50.300,Pfam_domain:PF03266,hmmpanther:PTHR20953,HAMAP:MF_00796		I/V		G	low	517/6311		getma.org/?cm=msa&ty=f&p=NTPCR_HUMAN&rb=4&re=182&var=I144V	tolerated(0.12)	Q5TDE9_HUMAN			YES	NTPCR,missense_variant,p.Ile144Val,ENST00000366628,NM_032324.1;NTPCR,missense_variant,p.Ile144Val,ENST00000366627,;NTPCR,non_coding_transcript_exon_variant,,ENST00000490098,;NTPCR,non_coding_transcript_exon_variant,,ENST00000496662,;NTPCR,non_coding_transcript_exon_variant,,ENST00000494689,;NTPCR,non_coding_transcript_exon_variant,,ENST00000479125,;NTPCR,non_coding_transcript_exon_variant,,ENST00000487953,;NTPCR,intron_variant,,ENST00000490807,;							MODERATE	430/573	I144V	NTPCR_HUMAN			Transcript		benign(0.199)	.	ENSP00000355587		CCDS1597.1			1	
QSOX1	0	LGGM	GRCh37	1	180153110	180153110	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	192	8	.	.	ENST00000367602.3:c.812G>T	p.Arg271Met	p.R271M	ENST00000367602		271	aGg/aTg	0	1	1	UPI000004C63C	0	getma.org/pdb.php?prot=QSOX1_HUMAN&from=150&to=349&var=R271M	ENST00000367602		ENSG00000116260	9756		200	2.395		HGNC	p.R271M		QSOX1		SNV							ENST00000367600	protein_coding	getma.org/?cm=var&var=hg19,1,180153110,G,T&fts=all		hmmpanther:PTHR22897,hmmpanther:PTHR22897:SF6		R/M		T	medium	886/9311		getma.org/?cm=msa&ty=f&p=QSOX1_HUMAN&rb=150&re=349&var=R271M	deleterious(0)				YES	QSOX1,missense_variant,p.Arg271Met,ENST00000367602,;QSOX1,missense_variant,p.Arg271Met,ENST00000367600,NM_002826.4,NM_001004128.2;QSOX1,3_prime_UTR_variant,,ENST00000392029,;							MODERATE	812/2244	R271M	QSOX1_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000356574		CCDS1337.1			1	
NIM1K	0	LGGM	GRCh37	5	43277395	43277395	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	8	.	.	ENST00000512796.1:c.529T>A	p.Phe177Ile	p.F177I	ENST00000512796		177	Ttc/Atc	0	1		UPI0000035B5F	0	getma.org/pdb.php?prot=NIM1_HUMAN&from=74&to=325&var=F177I	ENST00000326035		ENSG00000177453	28646		38	1.595		HGNC	p.F177I		NIM1K		SNV							ENST00000512796	protein_coding	getma.org/?cm=var&var=hg19,5,43277395,T,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF106,PROSITE_profiles:PS50011		F/I		A	low	1410/2313		getma.org/?cm=msa&ty=f&p=NIM1_HUMAN&rb=74&re=325&var=F177I	deleterious(0)					NIM1K,missense_variant,p.Phe177Ile,ENST00000512796,;NIM1K,missense_variant,p.Phe177Ile,ENST00000326035,NM_153361.3;							MODERATE	529/1311	F177I	NIM1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000313572		CCDS3943.1			1	
PALB2	0	LGGM	GRCh37	16	23637638	23637638	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	59	8	.	.	ENST00000261584.4:c.2667T>G	p.Thr889=	p.T889=	ENST00000261584	NM_024675.3	889	acT/acG	0	1	1	UPI000000DA86	0		ENST00000261584		ENSG00000083093	26144		67			HGNC	p.T889T		PALB2		SNV			1				ENST00000261584	protein_coding			hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		T		C		2820/4003							YES	PALB2,synonymous_variant,p.=,ENST00000261584,NM_024675.3;PALB2,upstream_gene_variant,,ENST00000566069,;CTD-2196E14.3,downstream_gene_variant,,ENST00000561764,;PALB2,3_prime_UTR_variant,,ENST00000568219,;PALB2,3_prime_UTR_variant,,ENST00000565038,;							LOW	2667/3561		PALB2_HUMAN			Transcript			.	ENSP00000261584		CCDS32406.1			1	
ACAN	0	LGGM	GRCh37	15	89398573	89398573	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	9	.	.	ENST00000439576.2:c.2757C>A	p.Pro919=	p.P919=	ENST00000439576	NM_013227.3	919	ccC/ccA	0	1	1	UPI0001B23381	0		ENST00000439576		ENSG00000157766	319		42			HGNC	p.P919P		ACAN		SNV			1				ENST00000561243	protein_coding			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		P		A		3131/8840				Q6LE94_HUMAN,E7EX88_HUMAN			YES	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,downstream_gene_variant,,ENST00000558207,;ACAN,upstream_gene_variant,,ENST00000560601,;							LOW	2757/7593					Transcript			.	ENSP00000387356		CCDS53970.1			1	
PCDHA9	0	LGGM	GRCh37	5	140229925	140229925	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	32	9	.	.	ENST00000532602.1:c.1845G>T	p.Thr615=	p.T615=	ENST00000532602	NM_031857.1	615	acG/acT	0	1	1	UPI00001273D1	0		ENST00000532602		ENSG00000204961	8675		41			HGNC	p.T615T		PCDHA9		SNV							ENST00000378122	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,SMART_domains:SM00112,Superfamily_domains:SSF49313		T		T		2878/6293							YES	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;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,;PCDHA6,intron_variant,,ENST00000527624,;							LOW	1845/2853		PCDA9_HUMAN			Transcript			.	ENSP00000436042		CCDS54920.1			1	
SNW1	0	LGGM	GRCh37	14	78217664	78217664	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	40	9	.	.	ENST00000261531.7:c.328A>T	p.Lys110Ter	p.K110*	ENST00000261531	NM_012245.2	110	Aag/Tag	0	1	1	UPI000000DB2D	0	NA	ENST00000261531		ENSG00000100603	16696		49	0		HGNC	p.K110X		SNW1		SNV							ENST00000554324	protein_coding	getma.org/?cm=var&var=hg19,14,78217664,T,A&fts=all		hmmpanther:PTHR12096		K/*		A	NA	391/2163		NA		G3V4X8_HUMAN			YES	SNW1,stop_gained,p.Lys110Ter,ENST00000261531,NM_012245.2;SNW1,stop_gained,p.Lys110Ter,ENST00000555761,;SNW1,stop_gained,p.Lys110Ter,ENST00000554324,;SNW1,intron_variant,,ENST00000554775,;SLIRP,intron_variant,,ENST00000557431,;SLIRP,intron_variant,,ENST00000556375,;SNW1,splice_region_variant,,ENST00000556428,;SNW1,splice_region_variant,,ENST00000557663,;SLIRP,intron_variant,,ENST00000556310,;							HIGH	328/1611	K110*	SNW1_HUMAN			Transcript			.	ENSP00000261531		CCDS9867.1			1	
CSMD3	0	LGGM	GRCh37	8	113241059	113241059	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	86	9	.	.	ENST00000297405.5:c.10890T>A	p.Ser3630=	p.S3630=	ENST00000297405	NM_198123.1	3630	tcT/tcA	0	1	1	UPI00001E0584	0		ENST00000297405		ENSG00000164796	19291		95			HGNC	p.S3590S		CSMD3		SNV							ENST00000343508	protein_coding			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Transmembrane_helices:TMhelix		S		T		11135/13212							YES	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000352409,;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;							LOW	10890/11124		CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
TRPV6	0	LGGM	GRCh37	7	142575516	142575516	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	42	9	.	.	ENST00000359396.3:c.237G>A	p.Gly79=	p.G79=	ENST00000359396	NM_018646.4	79	ggG/ggA	0	1	1	UPI000000D91B	0		ENST00000359396		ENSG00000165125	14006		51			HGNC	p.G6G		TRPV6		SNV							ENST00000431833	protein_coding			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		G		T		483/2928				Q9NXZ3_HUMAN,Q8NBV5_HUMAN,C9J9W0_HUMAN			YES	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,;							LOW	237/2178		TRPV6_HUMAN			Transcript			.	ENSP00000352358		CCDS5874.1			1	
SYCP1	0	LGGM	GRCh37	1	115398190	115398190	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	10	.	.	ENST00000369522.3:c.105C>T	p.Phe35=	p.F35=	ENST00000369522	NM_003176.2	35	ttC/ttT	0	1		UPI00001CE3B9	0		ENST00000369518		ENSG00000198765	11487		54			HGNC	p.F35F	rs749176245	SYCP1		SNV							ENST00000369518	protein_coding			Pfam_domain:PF05483,hmmpanther:PTHR18878		F		T		278/3452	3.02E-05			Q5VXJ5_HUMAN				SYCP1,synonymous_variant,p.=,ENST00000369522,NM_003176.2,NM_001282541.1;SYCP1,synonymous_variant,p.=,ENST00000369518,;SYCP1,synonymous_variant,p.=,ENST00000455987,;SYCP1,upstream_gene_variant,,ENST00000477215,;SYCP1,upstream_gene_variant,,ENST00000468191,;NR1H5P,downstream_gene_variant,,ENST00000452683,;							LOW	105/2931		SYCP1_HUMAN			Transcript			.	ENSP00000358531	1.65E-05	CCDS879.1			1	
MAP3K5	0	LGGM	GRCh37	6	136958487	136958487	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	10	.	.	ENST00000359015.4:c.1992A>T	p.Gly664=	p.G664=	ENST00000359015	NM_005923.3	664	ggA/ggT	0	1	1	UPI000012EAD5	0		ENST00000359015		ENSG00000197442	6857		40			HGNC	p.G664G		MAP3K5		SNV							ENST00000359015	protein_coding			hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332		G		A		2353/5197				A6NIA0_HUMAN			YES	MAP3K5,synonymous_variant,p.=,ENST00000359015,NM_005923.3;MAP3K5,5_prime_UTR_variant,,ENST00000355845,;RP3-325F22.3,intron_variant,,ENST00000432477,;							LOW	1992/4125		M3K5_HUMAN			Transcript			.	ENSP00000351908		CCDS5179.1			1	
DST	0	LGGM	GRCh37	6	56499685	56499685	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	80	10	.	.	ENST00000244364.6:c.1642A>G	p.Ile548Val	p.I548V	ENST00000244364	NM_015548.4	548	Ata/Gta	0	1	1	UPI00001C1577	0	getma.org/pdb.php?prot=DYST_HUMAN&from=856&to=1055&var=I874V	ENST00000244364		ENSG00000151914	1090		90	0.945		HGNC	p.I874V	COSM3662657,COSM3662656,COSM3662658,COSM3662659	DST		SNV			1			1,1,1,1	ENST00000312431	protein_coding	getma.org/?cm=var&var=hg19,6,56499685,T,C&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Superfamily_domains:SSF46966		I/V		C	low	1850/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=856&re=1055&var=I874V		Q86T18_HUMAN			YES	DST,missense_variant,p.Ile1052Val,ENST00000370754,;DST,missense_variant,p.Ile874Val,ENST00000370769,;DST,missense_variant,p.Ile874Val,ENST00000312431,;DST,missense_variant,p.Ile548Val,ENST00000446842,;DST,missense_variant,p.Ile874Val,ENST00000361203,;DST,missense_variant,p.Ile874Val,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Ile874Val,ENST00000421834,;DST,missense_variant,p.Ile548Val,ENST00000244364,NM_015548.4;DST,missense_variant,p.Ile548Val,ENST00000439203,;DST,missense_variant,p.Ile548Val,ENST00000370765,NM_001723.5;DST,missense_variant,p.Ile914Val,ENST00000520645,;DST,missense_variant,p.Ile548Val,ENST00000518935,;DST,downstream_gene_variant,,ENST00000521104,;DST,downstream_gene_variant,,ENST00000523967,;					1,1,1,1		MODERATE	1642/15516	I874V	DYST_HUMAN			Transcript		benign(0.019)	.	ENSP00000244364		CCDS47443.1			1	
OR5A1	0	LGGM	GRCh37	11	59210798	59210798	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	69	10	.	.	ENST00000302030.2:c.157A>T	p.Arg53Ter	p.R53*	ENST00000302030	NM_001004728.1	53	Aga/Tga	0	1	1	UPI0000041C97	0	NA	ENST00000302030		ENSG00000172320	8319		79	0		HGNC	p.R53X		OR5A1		SNV							ENST00000302030	protein_coding	getma.org/?cm=var&var=hg19,11,59210798,A,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF176,Superfamily_domains:SSF81321		R/*		T	NA	182/1051		NA					YES	OR5A1,stop_gained,p.Arg53Ter,ENST00000302030,NM_001004728.1;							HIGH	157/948	R53*	OR5A1_HUMAN			Transcript			.	ENSP00000303096		CCDS31561.1			1	
C14orf39	0	LGGM	GRCh37	14	60933662	60933662	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	31	10	.	.	ENST00000321731.3:c.868A>T	p.Met290Leu	p.M290L	ENST00000321731	NM_174978.2	290	Atg/Ttg	0	1	1	UPI0000140C15	0	NA	ENST00000321731		ENSG00000179008	19849		41	1.265		HGNC	p.M290L		C14orf39		SNV							ENST00000321731	protein_coding	getma.org/?cm=var&var=hg19,14,60933662,T,A&fts=all				M/L		A	low	1028/2813		getma.org/?cm=msa&ty=f&p=S6OS1_HUMAN&rb=1&re=585&var=M290L	tolerated(0.72)	G3V493_HUMAN,G3V3U9_HUMAN			YES	C14orf39,missense_variant,p.Met290Leu,ENST00000321731,NM_174978.2;C14orf39,downstream_gene_variant,,ENST00000555476,;C14orf39,3_prime_UTR_variant,,ENST00000557138,;							MODERATE	868/1764	M290L	S6OS1_HUMAN			Transcript		benign(0.001)	.	ENSP00000324920		CCDS9746.1			1	
CYC1	0	LGGM	GRCh37	8	145151328	145151328	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	35	10	.	.	ENST00000318911.4:c.542A>G	p.Asn181Ser	p.N181S	ENST00000318911	NM_001916.3	181	aAc/aGc	0	1	1	UPI000014046B	0	getma.org/pdb.php?prot=CY1_HUMAN&from=96&to=314&var=N181S	ENST00000318911		ENSG00000179091	2579		45	3.065		HGNC	p.N181S		CYC1		SNV			1				ENST00000318911	protein_coding	getma.org/?cm=var&var=hg19,8,145151328,A,G&fts=all		Superfamily_domains:SSF46626,Gene3D:1.10.760.10,Pfam_domain:PF02167,hmmpanther:PTHR10266		N/S		G	medium	615/1240		getma.org/?cm=msa&ty=f&p=CY1_HUMAN&rb=96&re=314&var=N181S	deleterious(0)				YES	CYC1,missense_variant,p.Asn181Ser,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,,ENST00000528618,;CYC1,non_coding_transcript_exon_variant,,ENST00000525122,;SHARPIN,downstream_gene_variant,,ENST00000359551,;SHARPIN,downstream_gene_variant,,ENST00000530216,;SHARPIN,downstream_gene_variant,,ENST00000525275,;							MODERATE	542/978	N181S	CY1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000317159		CCDS6415.1			1	
REXO2	0	LGGM	GRCh37	11	114311444	114311444	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	76	10	.	.	ENST00000265881.5:c.214C>G	p.Leu72Val	p.L72V	ENST00000265881	NM_015523.3	72	Ctc/Gtc	0	1	1	UPI000013D69D	0	getma.org/pdb.php?prot=ORN_HUMAN&from=44&to=207&var=L72V	ENST00000265881		ENSG00000076043	17851		86	3.635		HGNC	p.L72V		REXO2		SNV							ENST00000539275	protein_coding	getma.org/?cm=var&var=hg19,11,114311444,C,G&fts=all		Superfamily_domains:SSF53098,SMART_domains:SM00479,Pfam_domain:PF00929,Gene3D:3.30.420.10,hmmpanther:PTHR11046,HAMAP:MF_00045		L/V		G	high	357/1161		getma.org/?cm=msa&ty=f&p=ORN_HUMAN&rb=44&re=207&var=L72V	deleterious(0)	B2R532_HUMAN			YES	REXO2,missense_variant,p.Leu72Val,ENST00000265881,NM_015523.3;REXO2,missense_variant,p.Leu32Val,ENST00000544827,;REXO2,missense_variant,p.Leu72Val,ENST00000539754,;REXO2,missense_variant,p.Leu72Val,ENST00000539275,;REXO2,missense_variant,p.Leu72Val,ENST00000544196,;REXO2,intron_variant,,ENST00000539119,;REXO2,upstream_gene_variant,,ENST00000538791,;REXO2,upstream_gene_variant,,ENST00000538403,;REXO2,upstream_gene_variant,,ENST00000539788,;REXO2,missense_variant,p.Leu18Val,ENST00000546316,;REXO2,missense_variant,p.Leu72Val,ENST00000541703,;REXO2,missense_variant,p.Leu67Val,ENST00000538198,;RP11-212D19.4,3_prime_UTR_variant,,ENST00000544347,;REXO2,non_coding_transcript_exon_variant,,ENST00000544010,;REXO2,non_coding_transcript_exon_variant,,ENST00000539333,;REXO2,non_coding_transcript_exon_variant,,ENST00000543243,;REXO2,non_coding_transcript_exon_variant,,ENST00000542186,;REXO2,intron_variant,,ENST00000543131,;REXO2,upstream_gene_variant,,ENST00000540492,;							MODERATE	214/714	L72V	ORN_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000265881		CCDS8371.1			1	
MROH1	0	LGGM	GRCh37	8	145278079	145278079	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	9	10	.	.	ENST00000528919.1:c.1284T>A	p.Gly428=	p.G428=	ENST00000528919	NM_032450.2	428	ggT/ggA	0	1		UPI0001AE6FA6	0		ENST00000326134		ENSG00000179832	26958		19			HGNC	p.G428G		MROH1		SNV							ENST00000528919	protein_coding			hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF13,Gene3D:1.25.10.10		G		A		1341/5183								MROH1,synonymous_variant,p.=,ENST00000528919,NM_032450.2;MROH1,synonymous_variant,p.=,ENST00000326134,;MROH1,synonymous_variant,p.=,ENST00000534366,NM_001288814.1;MROH1,synonymous_variant,p.=,ENST00000398656,;MROH1,non_coding_transcript_exon_variant,,ENST00000527552,;MROH1,non_coding_transcript_exon_variant,,ENST00000532255,;							LOW	1284/4926		MROH1_HUMAN			Transcript			.	ENSP00000321737		CCDS47938.1			1	
DNAH7	0	LGGM	GRCh37	2	196825178	196825178	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	94	10	.	.	ENST00000312428.6:c.2697T>C	p.Tyr899=	p.Y899=	ENST00000312428	NM_018897.2	899	taT/taC	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		104			HGNC	p.Y899Y		DNAH7		SNV							ENST00000312428	protein_coding			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393		Y		G		2798/12394				C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;							LOW	2697/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273		CCDS42794.1			1	
CYP2C8	0	LGGM	GRCh37	10	96818197	96818197	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	36	10	.	.	ENST00000371270.3:c.714T>G	p.Ala238=	p.A238=	ENST00000371270	NM_000770.3	238	gcT/gcG	0	1	1	UPI0000128256	0		ENST00000371270		ENSG00000138115	2622		46			HGNC	p.A136A		CYP2C8		SNV			1				ENST00000535898	protein_coding			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF141,Superfamily_domains:SSF48264		A		C		809/1923				B7Z1F5_HUMAN			YES	CYP2C8,synonymous_variant,p.=,ENST00000371270,NM_000770.3,NM_001198855.1,NM_001198853.1;CYP2C8,synonymous_variant,p.=,ENST00000535898,NM_001198854.1;CYP2C8,synonymous_variant,p.=,ENST00000539050,;CYP2C8,synonymous_variant,p.=,ENST00000527420,;CYP2C8,3_prime_UTR_variant,,ENST00000490994,;CYP2C8,3_prime_UTR_variant,,ENST00000525991,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,;CYP2C8,non_coding_transcript_exon_variant,,ENST00000479946,;							LOW	714/1473		CP2C8_HUMAN			Transcript			.	ENSP00000360317		CCDS7438.1			1	
GON4L	0	LGGM	GRCh37	1	155734745	155734745	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	10	.	.	ENST00000437809.1:c.4473+46A>G		*1491*	ENST00000437809				0	1		UPI0000351551	0	NA	ENST00000368331		ENSG00000116580	25973		39	0		HGNC	p.M1507V		GON4L		SNV							ENST00000361040	protein_coding	getma.org/?cm=var&var=hg19,1,155734745,T,C&fts=all						C	neutral	-/7640		getma.org/?cm=msa&ty=f&p=B2RCN4_HUMAN&rb=796&re=835&var=M813V						GON4L,missense_variant,p.Met1507Val,ENST00000361040,NM_032292.4,NM_001282861.1;GON4L,intron_variant,,ENST00000437809,;GON4L,intron_variant,,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,intron_variant,,ENST00000271883,;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,downstream_gene_variant,,ENST00000497369,;GON4L,downstream_gene_variant,,ENST00000490801,;GON4L,downstream_gene_variant,,ENST00000496021,;							MODIFIER	-/6726	M813V	GON4L_HUMAN			Transcript			.	ENSP00000357315		CCDS60296.1			1	
ZNF250	0	LGGM	GRCh37	8	146105845	146105845	+	3_prime_UTR_variant	3'UTR	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	20	11	.	.	ENST00000292579.7:c.*1055A>G		*352*	ENST00000292579	NM_021061.4			0	1	1	UPI0000197F51	0		ENST00000292579		ENSG00000196150	13044		31			HGNC	-		ZNF250		SNV							ENST00000543949	protein_coding							C		2855/6364							YES	ZNF250,splice_acceptor_variant,,ENST00000342660,;ZNF250,splice_acceptor_variant,,ENST00000543949,;ZNF250,3_prime_UTR_variant,,ENST00000292579,NM_021061.4,NM_001109689.3;ZNF250,downstream_gene_variant,,ENST00000417550,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,splice_acceptor_variant,,ENST00000533543,;ZNF250,splice_acceptor_variant,,ENST00000529780,;ZNF250,splice_acceptor_variant,,ENST00000528258,;							MODIFIER	-/1683		ZN250_HUMAN			Transcript			.	ENSP00000292579		CCDS34972.1			1	
EDDM3B	0	LGGM	GRCh37	14	21238459	21238459	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	55	11	.	.	ENST00000326783.3:c.150T>A	p.Cys50Ter	p.C50*	ENST00000326783	NM_022360.4	50	tgT/tgA	0	1	1	UPI000003EDF8	0	NA	ENST00000326783		ENSG00000181552	19223		66	0		HGNC	p.C50X		EDDM3B		SNV							ENST00000326783	protein_coding	getma.org/?cm=var&var=hg19,14,21238459,T,A&fts=all		Gene3D:3.10.130.10,Pfam_domain:PF00074,hmmpanther:PTHR16788,hmmpanther:PTHR16788:SF1,SMART_domains:SM00092,Superfamily_domains:SSF54076		C/*		A	NA	248/896		NA					YES	EDDM3B,stop_gained,p.Cys50Ter,ENST00000326783,NM_022360.4;							HIGH	150/444	C50*	EP3B_HUMAN			Transcript			.	ENSP00000314810		CCDS9557.1			1	
PRPF38A	0	LGGM	GRCh37	1	52871511	52871511	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	44	11	.	.	ENST00000257181.9:c.290A>C	p.Lys97Thr	p.K97T	ENST00000257181	NM_032864.3	97	aAg/aCg	0	1	1	UPI000006D9C2	0	NA	ENST00000257181		ENSG00000134748	25930		55	3.79		HGNC	p.K97T		PRPF38A		SNV							ENST00000257181	protein_coding	getma.org/?cm=var&var=hg19,1,52871511,A,C&fts=all		hmmpanther:PTHR23142,Pfam_domain:PF03371		K/T		C	high	476/5274		getma.org/?cm=msa&ty=f&p=PR38A_HUMAN&rb=6&re=177&var=K97T	deleterious(0)				YES	PRPF38A,missense_variant,p.Lys97Thr,ENST00000257181,NM_032864.3;ORC1,upstream_gene_variant,,ENST00000371568,NM_001190818.1,NM_001190819.1,NM_004153.3;ORC1,upstream_gene_variant,,ENST00000371566,;ZCCHC11,downstream_gene_variant,,ENST00000528457,;PRPF38A,splice_region_variant,,ENST00000487160,;PRPF38A,intron_variant,,ENST00000474048,;ZCCHC11,downstream_gene_variant,,ENST00000527941,;							MODERATE	290/939	K97T	PR38A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000257181		CCDS567.1			1	
PNLDC1	0	LGGM	GRCh37	6	160240060	160240060	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	57	12	.	.	ENST00000610273.1:c.1307A>T	p.Gln436Leu	p.Q436L	ENST00000610273	NM_173516.2	436	cAg/cTg	0	1	1	UPI00000717EB	0	NA	ENST00000610273		ENSG00000146453	21185		69	0.345		HGNC	p.Q436L	rs780351107	PNLDC1		SNV							ENST00000275275	protein_coding	getma.org/?cm=var&var=hg19,6,160240060,A,T&fts=all		hmmpanther:PTHR15092:SF8,hmmpanther:PTHR15092		Q/L		T	neutral	1478/1920	1.50E-05	getma.org/?cm=msa&ty=f&p=PNDC1_HUMAN&rb=365&re=520&var=Q436L	tolerated(0.09)				YES	PNLDC1,missense_variant,p.Gln436Leu,ENST00000610273,NM_173516.2;PNLDC1,missense_variant,p.Gln447Leu,ENST00000392167,NM_001271862.1;PNLDC1,3_prime_UTR_variant,,ENST00000275275,;PNLDC1,downstream_gene_variant,,ENST00000609658,;							MODERATE	1307/1563	Q436L				Transcript		benign(0.159)	.	ENSP00000476448	8.24E-06	CCDS64561.1			1	
RTN4	0	LGGM	GRCh37	2	55254582	55254582	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	55	12	.	.	ENST00000337526.6:c.653C>T	p.Ser218Leu	p.S218L	ENST00000337526	NM_020532.4	218	tCg/tTg	0	1	1	UPI000000D81D	0	NA	ENST00000337526		ENSG00000115310	14085		67	2.175		HGNC	p.S218L	rs772482309	RTN4	0.000127	SNV							ENST00000337526	protein_coding	getma.org/?cm=var&var=hg19,2,55254582,G,A&fts=all		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25		S/L		A	medium	897/4790	6.04E-05	getma.org/?cm=msa&ty=f&p=RTN4_HUMAN&rb=201&re=400&var=S218L	deleterious(0)	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN			YES	RTN4,missense_variant,p.Ser218Leu,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Ser12Leu,ENST00000394611,;RTN4,missense_variant,p.Ser12Leu,ENST00000357376,NM_207521.1;RTN4,missense_variant,p.Ser12Leu,ENST00000404909,;RTN4,missense_variant,p.Ser12Leu,ENST00000405240,;RTN4,missense_variant,p.Ser12Leu,ENST00000427710,;RTN4,intron_variant,,ENST00000354474,;RTN4,intron_variant,,ENST00000357732,NM_207520.1;RTN4,intron_variant,,ENST00000317610,NM_153828.2;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000438462,;							MODERATE	653/3579	S218L	RTN4_HUMAN			Transcript		possibly_damaging(0.656)	.	ENSP00000337838	4.94E-05	CCDS42684.1			1	
ARGFX	0	LGGM	GRCh37	3	121305051	121305051	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	70	12	.	.	ENST00000334384.3:c.552A>T	p.Leu184Phe	p.L184F	ENST00000334384	NM_001012659.1	184	ttA/ttT	0	1	1	UPI00004ED62C	0	NA	ENST00000334384		ENSG00000186103	30146		82	0.895		HGNC	p.L184F		ARGFX		SNV							ENST00000334384	protein_coding	getma.org/?cm=var&var=hg19,3,121305051,A,T&fts=all		hmmpanther:PTHR24329:SF134,hmmpanther:PTHR24329		L/F		T	low	562/992		getma.org/?cm=msa&ty=f&p=ARGFX_HUMAN&rb=136&re=188&var=L184F	tolerated(0.08)				YES	ARGFX,missense_variant,p.Leu184Phe,ENST00000334384,NM_001012659.1;							MODERATE	552/948	L184F	ARGFX_HUMAN			Transcript		benign(0.117)	.	ENSP00000335578		CCDS33834.1			1	
MYH7	0	LGGM	GRCh37	14	23900861	23900861	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	39	12	.	.	ENST00000355349.3:c.665A>T	p.Gln222Leu	p.Q222L	ENST00000355349	NM_000257.2	222	cAg/cTg	0	1	1	UPI000014019B	0	getma.org/pdb.php?prot=MYH7_HUMAN&from=87&to=766&var=Q222L	ENST00000355349		ENSG00000092054	7577		51	3.065		HGNC	p.Q222L		MYH7		SNV			1				ENST00000355349	protein_coding	getma.org/?cm=var&var=hg19,14,23900861,T,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279,SMART_domains:SM00242,Superfamily_domains:SSF52540		Q/L		A	medium	828/6087		getma.org/?cm=msa&ty=f&p=MYH7_HUMAN&rb=87&re=766&var=Q222L	deleterious(0.01)	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,missense_variant,p.Gln222Leu,ENST00000355349,NM_000257.2;							MODERATE	665/5808	Q222L	MYH7_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000347507		CCDS9601.1			1	
CRB1	0	LGGM	GRCh37	1	197446844	197446844	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	33	12	.	.	ENST00000367400.3:c.4056T>A	p.Thr1352=	p.T1352=	ENST00000367400	NM_201253.2	1352	acT/acA	0	1	1	UPI0000073345	0		ENST00000367400		ENSG00000134376	2343		45			HGNC	p.T1240T		CRB1		SNV			1				ENST00000367399	protein_coding			hmmpanther:PTHR24049,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		T		A		4191/4932				B7Z824_HUMAN			YES	CRB1,synonymous_variant,p.=,ENST00000367400,NM_201253.2;CRB1,synonymous_variant,p.=,ENST00000535699,NM_001257965.1;CRB1,synonymous_variant,p.=,ENST00000367399,NM_001193640.1;CRB1,synonymous_variant,p.=,ENST00000544212,;CRB1,synonymous_variant,p.=,ENST00000538660,NM_001257966.1;CRB1,3_prime_UTR_variant,,ENST00000448952,;CRB1,3_prime_UTR_variant,,ENST00000484075,;							LOW	4056/4221		CRUM1_HUMAN			Transcript			.	ENSP00000356370		CCDS1390.1			1	
TRIM42	0	LGGM	GRCh37	3	140401457	140401457	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	40	12	.	.	ENST00000286349.3:c.495G>A	p.Leu165=	p.L165=	ENST00000286349	NM_152616.4	165	ctG/ctA	0	1	1	UPI00001AEAE0	0		ENST00000286349		ENSG00000155890	19014		52			HGNC	p.L165L	rs752919659	TRIM42		SNV							ENST00000286349	protein_coding			PROSITE_patterns:PS00518,PROSITE_profiles:PS50089,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,Superfamily_domains:SSF57850		L		A		686/2539	1.50E-05						YES	TRIM42,synonymous_variant,p.=,ENST00000286349,NM_152616.4;							LOW	495/2172		TRI42_HUMAN			Transcript			.	ENSP00000286349	8.24E-06	CCDS3113.1			1	
LRP2	0	LGGM	GRCh37	2	170053496	170053496	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	29	12	.	.	ENST00000263816.3:c.8623C>T	p.Arg2875Cys	p.R2875C	ENST00000263816	NM_004525.2	2875	Cgc/Tgc	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=2862&to=2899&var=R2875C	ENST00000263816		ENSG00000081479	6694		41	2.52		HGNC	p.R2875C	COSM1009206	LRP2		SNV			1			1	ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170053496,G,A&fts=all		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424		R/C		A	medium	8909/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=2862&re=2899&var=R2875C		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Arg2875Cys,ENST00000263816,NM_004525.2;					1		MODERATE	8623/13968	R2875C	LRP2_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000263816		CCDS2232.1			1	
ANTXRL	0	LGGM	GRCh37	10	47700847	47700847	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	43	12	.	.	ENST00000447511.2:c.1423A>T	p.Ser475Cys	p.S475C	ENST00000447511	NM_001278688.1	475	Agc/Tgc	0	1	1	UPI00015B6A6A	0		ENST00000447511		ENSG00000198250	27277		55			HGNC	p.S475C		ANTXRL		SNV							ENST00000537271	protein_coding			hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF10,Low_complexity_(Seg):seg		S/C		T		1688/2284			deleterious(0)	H3BVE1_HUMAN,H3BPS2_HUMAN			YES	ANTXRL,missense_variant,p.Ser475Cys,ENST00000447511,NM_001278688.1;ANTXRL,missense_variant,p.Ser475Cys,ENST00000537271,;ANTXRL,3_prime_UTR_variant,,ENST00000424375,;							MODERATE	1423/1896					Transcript		probably_damaging(0.993)	.	ENSP00000455449		CCDS60524.1			1	
LPP	0	LGGM	GRCh37	3	188242573	188242573	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	94	13	.	.	ENST00000312675.4:c.427C>A	p.Gln143Lys	p.Q143K	ENST00000312675	NM_005578.3	143	Cag/Aag	0	1	1	UPI000002E034	0	NA	ENST00000312675		ENSG00000145012	6679		107	1.845		HGNC	p.Q143K		LPP		SNV							ENST00000312675	protein_coding	getma.org/?cm=var&var=hg19,3,188242573,C,A&fts=all		hmmpanther:PTHR24207,hmmpanther:PTHR24207:SF0		Q/K		A	low	673/18278		getma.org/?cm=msa&ty=f&p=LPP_HUMAN&rb=1&re=199&var=Q143K	tolerated(0.09)	C9JT42_HUMAN,C9JIY7_HUMAN,C9JE51_HUMAN,C9J5C8_HUMAN,C9J4E3_HUMAN,C9J3U9_HUMAN,C9J2R5_HUMAN,C9J1K7_HUMAN,B7Z871_HUMAN			YES	LPP,missense_variant,p.Gln143Lys,ENST00000312675,NM_005578.3,NM_001167672.1;LPP,missense_variant,p.Gln143Lys,ENST00000543006,NM_001167671.1,NM_001167672.1;LPP,missense_variant,p.Gln143Lys,ENST00000448637,;LPP,missense_variant,p.Gln143Lys,ENST00000416784,;LPP,downstream_gene_variant,,ENST00000420410,;LPP,splice_region_variant,,ENST00000484468,;LPP,splice_region_variant,,ENST00000494233,;LPP,non_coding_transcript_exon_variant,,ENST00000474472,;							MODERATE	427/1839	Q143K	LPP_HUMAN			Transcript		benign(0.011)	.	ENSP00000318089		CCDS3291.1			1	
CCDC87	0	LGGM	GRCh37	11	66358401	66358401	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	47	13	.	.	ENST00000333861.3:c.2086A>T	p.Lys696Ter	p.K696*	ENST00000333861	NM_018219.2	696	Aag/Tag	0	1	1	UPI000013EFC2	0	NA	ENST00000333861		ENSG00000182791	25579		60	0		HGNC	p.K696X		CCDC87		SNV							ENST00000333861	protein_coding	getma.org/?cm=var&var=hg19,11,66358401,T,A&fts=all		hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1		K/*		A	NA	2154/2915		NA					YES	CCDC87,stop_gained,p.Lys696Ter,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,;							HIGH	2086/2550	K696*	CCD87_HUMAN			Transcript			.	ENSP00000328487		CCDS8145.1			1	
KRTAP9-7	0	LGGM	GRCh37	17	39432205	39432205	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	52	13	.	.	ENST00000391354.1:c.256T>A	p.Cys86Ser	p.C86S	ENST00000391354	NM_001277332.1	86	Tgt/Agt	0	1	1	UPI0000DD83F7	0	NA	ENST00000391354		ENSG00000180386	18915		65	2.535		HGNC	p.C86S		KRTAP9-7		SNV							ENST00000391354	protein_coding	getma.org/?cm=var&var=hg19,17,39432205,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF36,Pfam_domain:PF13885		C/S		A	medium	295/1039		getma.org/?cm=msa&ty=f&p=KRA97_HUMAN&rb=75&re=119&var=C86S	tolerated(0.13)				YES	KRTAP9-7,missense_variant,p.Cys86Ser,ENST00000391354,NM_001277332.1;KRTAP9-11P,downstream_gene_variant,,ENST00000431013,;KRTAP9-10P,upstream_gene_variant,,ENST00000435672,;							MODERATE	256/510	C86S	KRA97_HUMAN			Transcript		unknown(0)	.	ENSP00000375149		CCDS59287.1			1	
SATB1	0	LGGM	GRCh37	3	18462365	18462365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	65	13	.	.	ENST00000417717.2:c.95G>T	p.Arg32Leu	p.R32L	ENST00000417717	NM_001195470.1	32	cGc/cTc	0	1		UPI0000000C35	0	NA	ENST00000338745		ENSG00000182568	10541		78	1.67		HGNC	p.R32L		SATB1		SNV							ENST00000440737	protein_coding	getma.org/?cm=var&var=hg19,3,18462365,C,A&fts=all		hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14		R/L		A	low	1830/7810		getma.org/?cm=msa&ty=f&p=SATB1_HUMAN&rb=1&re=200&var=R32L	deleterious(0)	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN				SATB1,missense_variant,p.Arg32Leu,ENST00000338745,NM_002971.4;SATB1,missense_variant,p.Arg32Leu,ENST00000417717,NM_001195470.1;SATB1,missense_variant,p.Arg32Leu,ENST00000454909,NM_001131010.2;SATB1,missense_variant,p.Arg32Leu,ENST00000440737,;SATB1,missense_variant,p.Arg32Leu,ENST00000452260,;SATB1,missense_variant,p.Arg32Leu,ENST00000493952,;SATB1,missense_variant,p.Arg32Leu,ENST00000415069,;SATB1,missense_variant,p.Arg32Leu,ENST00000414509,;SATB1,missense_variant,p.Arg32Leu,ENST00000444341,;SATB1,missense_variant,p.Arg32Leu,ENST00000457005,;SATB1,downstream_gene_variant,,ENST00000450898,;TBC1D5,intron_variant,,ENST00000414318,;SATB1,upstream_gene_variant,,ENST00000475083,;SATB1,non_coding_transcript_exon_variant,,ENST00000487699,;SATB1,upstream_gene_variant,,ENST00000491519,;SATB1,upstream_gene_variant,,ENST00000482788,;							MODERATE	95/2292	R32L	SATB1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000341024		CCDS2631.1			1	
IGKV1-6	0	LGGM	GRCh37	2	89266240	89266240	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	86	14	.	.	ENST00000464162.1:c.18C>T	p.Pro6=	p.P6=	ENST00000464162		6	ccC/ccT	0	1	1	UPI0000113B4D	0		ENST00000464162		ENSG00000239855	5742		100			HGNC	p.P6P		IGKV1-6		SNV				0.000104			ENST00000464162	IG_V_gene			hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Cleavage_site_(Signalp):SignalP-noTM		P		A		47/380	3.02E-05						YES	IGKV1-6,synonymous_variant,p.=,ENST00000464162,;	0.000116						LOW	18/351					Transcript			.	ENSP00000420361	3.32E-05				1	
NUP98	0	LGGM	GRCh37	11	3746409	3746409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	34	14	.	.	ENST00000324932.7:c.1771A>G	p.Ser591Gly	p.S591G	ENST00000324932	NM_139132.3	591	Agc/Ggc	0	1		UPI00015DFF4D	0	NA	ENST00000359171		ENSG00000110713	8068		48	2.045		HGNC	p.S591G		NUP98		SNV							ENST00000397004	protein_coding	getma.org/?cm=var&var=hg19,11,3746409,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23198:SF0,hmmpanther:PTHR23198		S/G		C	medium	2192/6770		getma.org/?cm=msa&ty=f&p=NUP98_HUMAN&rb=263&re=726&var=S608G	deleterious(0.01)	Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,missense_variant,p.Ser591Gly,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,missense_variant,p.Ser591Gly,ENST00000359171,;NUP98,missense_variant,p.Ser591Gly,ENST00000355260,;NUP98,missense_variant,p.Ser591Gly,ENST00000397004,NM_139131.3;NUP98,missense_variant,p.Ser608Gly,ENST00000397007,NM_005387.5;NUP98,missense_variant,p.Ser211Gly,ENST00000527104,;NUP98,upstream_gene_variant,,ENST00000530516,;							MODERATE	1771/4917	S608G				Transcript		probably_damaging(0.916)	.	ENSP00000352091					1	
ZNF451	0	LGGM	GRCh37	6	56965934	56965934	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	78	15	.	.	ENST00000370706.4:c.186+1995A>G		*62*	ENST00000370706	NM_001031623.2			0	1	1	UPI000004A571	0		ENST00000370706		ENSG00000112200	21091		93			HGNC	p.K240K		ZNF451		SNV							ENST00000370708	protein_coding							G		-/5268				Q96JY2_HUMAN,D6RAV4_HUMAN			YES	ZNF451,synonymous_variant,p.=,ENST00000370708,NM_001257273.1;ZNF451,intron_variant,,ENST00000370706,NM_001031623.2;ZNF451,intron_variant,,ENST00000357489,NM_015555.2;ZNF451,intron_variant,,ENST00000491832,;ZNF451,intron_variant,,ENST00000510483,;ZNF451,intron_variant,,ENST00000515290,;ZNF451,intron_variant,,ENST00000370702,;ZNF451,downstream_gene_variant,,ENST00000508603,;ZNF451,downstream_gene_variant,,ENST00000370710,;ZNF451,intron_variant,,ENST00000509071,;ZNF451,downstream_gene_variant,,ENST00000510989,;ZNF451,upstream_gene_variant,,ENST00000509251,;ZNF451,intron_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000502749,;ZNF451,intron_variant,,ENST00000370711,;ZNF451,intron_variant,,ENST00000504603,;							MODIFIER	-/3186		ZN451_HUMAN			Transcript			.	ENSP00000359740		CCDS43477.1			1	
SCN4A	0	LGGM	GRCh37	17	62018894	62018894	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	70	15	.	.	ENST00000435607.1:c.4748T>A	p.Ile1583Asn	p.I1583N	ENST00000435607	NM_000334.4	1583	aTc/aAc	0	1	1	UPI0000201254	0	NA	ENST00000435607		ENSG00000007314	10591		85	4.105		HGNC	p.I1583N		SCN4A		SNV			1				ENST00000435607	protein_coding	getma.org/?cm=var&var=hg19,17,62018894,A,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00170		I/N		T	high	4825/7805		getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1387&re=1597&var=I1583N	deleterious(0)	Q9H3L9_HUMAN			YES	SCN4A,missense_variant,p.Ile1583Asn,ENST00000578147,;SCN4A,missense_variant,p.Ile1583Asn,ENST00000435607,NM_000334.4;							MODERATE	4748/5511	I1583N	SCN4A_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000396320		CCDS45761.1			1	
PCDHA2	0	LGGM	GRCh37	5	140174738	140174738	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	52	15	.	.	ENST00000526136.1:c.189G>T	p.Leu63=	p.L63=	ENST00000526136	NM_018905.2	63	ctG/ctT	0	1	1	UPI00001273C9	0		ENST00000526136		ENSG00000204969	8668		67			HGNC	p.L63L		PCDHA2		SNV							ENST00000378132	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		T		189/5254							YES	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;							LOW	189/2847		PCDA2_HUMAN			Transcript			.	ENSP00000431748		CCDS54914.1			1	
PHF14	0	LGGM	GRCh37	7	11022337	11022337	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	79	15	.	.	ENST00000403050.3:c.451A>T	p.Thr151Ser	p.T151S	ENST00000403050	NM_014660.3	151	Acc/Tcc	0	1	1	UPI000020EB41	0	NA	ENST00000403050		ENSG00000106443	22203		94	0		HGNC	p.T151S		PHF14		SNV							ENST00000403050	protein_coding	getma.org/?cm=var&var=hg19,7,11022337,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13793:SF10,hmmpanther:PTHR13793		T/S		T	neutral	903/4276		getma.org/?cm=msa&ty=f&p=PHF14_HUMAN&rb=1&re=200&var=T151S	tolerated_low_confidence(0.71)				YES	PHF14,missense_variant,p.Thr151Ser,ENST00000403050,NM_014660.3;PHF14,intron_variant,,ENST00000445996,;PHF14,intron_variant,,ENST00000476009,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;PHF14,intron_variant,,ENST00000423760,;PHF14,intron_variant,,ENST00000521747,;							MODERATE	451/2667	T151S	PHF14_HUMAN			Transcript		unknown(0)	.	ENSP00000385795		CCDS47542.1			1	
MUC16	0	LGGM	GRCh37	19	9011490	9011490	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	59	16	.	.	ENST00000397910.4:c.38743G>T	p.Glu12915Ter	p.E12915*	ENST00000397910	NM_024690.2	12915	Gag/Tag	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		75	0		HGNC	p.E12915X		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9011490,C,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		E/*		A	NA	38947/43816		NA		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,stop_gained,p.Glu12915Ter,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000601404,;							HIGH	38743/43524	E12917*				Transcript			.	ENSP00000381008		CCDS54212.1			1	
PHAX	0	LGGM	GRCh37	5	125939786	125939786	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	54	16	.	.	ENST00000297540.4:c.621A>T	p.Leu207=	p.L207=	ENST00000297540	NM_032177.3	207	ctA/ctT	0	1	1	UPI000006DD37	0		ENST00000297540		ENSG00000164902	10241		70			HGNC	p.L207L		PHAX		SNV							ENST00000297540	protein_coding			hmmpanther:PTHR13135		L		T		1316/4288							YES	PHAX,synonymous_variant,p.=,ENST00000297540,NM_032177.3;PHAX,downstream_gene_variant,,ENST00000514725,;PHAX,non_coding_transcript_exon_variant,,ENST00000505674,;PHAX,upstream_gene_variant,,ENST00000511371,;							LOW	621/1185		PHAX_HUMAN			Transcript			.	ENSP00000297540		CCDS4138.1			1	
FOXP4	0	LGGM	GRCh37	6	41533531	41533531	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	62	16	.	.	ENST00000373060.1:c.33G>T	p.Arg11Ser	p.R11S	ENST00000373060	NM_001012426.1	11	agG/agT	0	1		UPI000007462D	0	NA	ENST00000307972		ENSG00000137166	20842		78	0.255		HGNC	p.R11S		FOXP4		SNV							ENST00000409208	protein_coding	getma.org/?cm=var&var=hg19,6,41533531,G,T&fts=all		hmmpanther:PTHR25042,hmmpanther:PTHR25042:SF13		R/S		T	neutral	45/3745		getma.org/?cm=msa&ty=f&p=FOXP4_HUMAN&rb=1&re=458&var=R11S	tolerated_low_confidence(0.53)	Q8N4A5_HUMAN,Q69YN9_HUMAN				FOXP4,missense_variant,p.Arg11Ser,ENST00000373060,NM_001012426.1,NM_001012427.1;FOXP4,missense_variant,p.Arg11Ser,ENST00000373063,NM_138457.2;FOXP4,missense_variant,p.Arg11Ser,ENST00000307972,;FOXP4,missense_variant,p.Arg11Ser,ENST00000409208,;FOXP4,missense_variant,p.Arg11Ser,ENST00000373057,;FOXP4,upstream_gene_variant,,ENST00000451305,;							MODERATE	33/2043	R11S	FOXP4_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000309823		CCDS34447.1			1	
MUC12	0	LGGM	GRCh37	7	100635176	100635176	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	174	16	.	.	ENST00000536621.1:c.1332A>T	p.Pro444=	p.P444=	ENST00000536621	NM_001164462.1	444	ccA/ccT	0	1		UPI0001722DB1	0		ENST00000379442		ENSG00000205277	7510		190			HGNC	p.P444P		MUC12		SNV							ENST00000536621	protein_coding			hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		P		T		1761/16737								MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;							LOW	1761/16437		MUC12_HUMAN			Transcript			.	ENSP00000368755					1	
OR8J1	0	LGGM	GRCh37	11	56127902	56127902	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	73	17	.	.	ENST00000303039.3:c.180C>T	p.Tyr60=	p.Y60=	ENST00000303039	NM_001005205.2	60	taC/taT	0	1	1	UPI000004BE58	0		ENST00000303039		ENSG00000172487	14855		90			HGNC	p.Y60Y	COSM3449381	OR8J1		SNV						1	ENST00000303039	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Y		T		212/1074							YES	OR8J1,synonymous_variant,p.=,ENST00000303039,NM_001005205.2;RPL5P29,downstream_gene_variant,,ENST00000482972,;					1		LOW	180/951		OR8J1_HUMAN			Transcript			.	ENSP00000304060		CCDS31529.1			1	
LRRK2	0	LGGM	GRCh37	12	40728841	40728841	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	39	17	.	.	ENST00000298910.7:c.5830A>T	p.Met1944Leu	p.M1944L	ENST00000298910	NM_198578.3	1944	Atg/Ttg	0	1	1	UPI00006C128E	0	getma.org/pdb.php?prot=LRRK2_HUMAN&from=1882&to=2132&var=M1944L	ENST00000298910		ENSG00000188906	18618		56	-0.385		HGNC	p.M1944L		LRRK2		SNV			1				ENST00000298910	protein_coding	getma.org/?cm=var&var=hg19,12,40728841,A,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/L		T	neutral	5888/9158		getma.org/?cm=msa&ty=f&p=LRRK2_HUMAN&rb=1882&re=2132&var=M1944L	tolerated(0.3)				YES	LRRK2,missense_variant,p.Met1944Leu,ENST00000298910,NM_198578.3;LRRK2,3_prime_UTR_variant,,ENST00000430804,;LRRK2,non_coding_transcript_exon_variant,,ENST00000479187,;							MODERATE	5830/7584	M1944L	LRRK2_HUMAN			Transcript		benign(0.055)	.	ENSP00000298910		CCDS31774.1			1	
PRR11	0	LGGM	GRCh37	17	57275071	57275071	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	93	18	.	.	ENST00000262293.4:c.935C>G	p.Pro312Arg	p.P312R	ENST00000262293	NM_018304.3	312	cCt/cGt	0	1	1	UPI000006FA82	0	NA	ENST00000262293		ENSG00000068489	25619		111	2.255		HGNC	p.P312R		PRR11		SNV							ENST00000262293	protein_coding	getma.org/?cm=var&var=hg19,17,57275071,C,G&fts=all		hmmpanther:PTHR23330		P/R		G	medium	1247/2332		getma.org/?cm=msa&ty=f&p=PRR11_HUMAN&rb=201&re=360&var=P312R	deleterious(0)	J3QRV0_HUMAN,J3QR53_HUMAN,D2SNZ4_HUMAN			YES	PRR11,missense_variant,p.Pro312Arg,ENST00000262293,NM_018304.3;CTD-2510F5.6,missense_variant,p.Pro19Arg,ENST00000577660,;PRR11,missense_variant,p.Pro24Arg,ENST00000582004,;PRR11,downstream_gene_variant,,ENST00000578777,;CTD-2510F5.4,downstream_gene_variant,,ENST00000577678,;PRR11,missense_variant,p.Pro312Arg,ENST00000578542,;PRR11,missense_variant,p.Pro312Arg,ENST00000580177,;							MODERATE	935/1083	P312R	PRR11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262293		CCDS11614.1			1	
FBN2	0	LGGM	GRCh37	5	127641584	127641584	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	70	18	.	.	ENST00000508053.1:c.5479C>T	p.Gln1827Ter	p.Q1827*	ENST00000508053		1827	Cag/Tag	0	1		UPI0000519468	0	NA	ENST00000262464		ENSG00000138829	3604		88	0		HGNC	p.Q1827X		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127641584,G,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		Q/*		A	NA	5918/10724		NA						FBN2,stop_gained,p.Gln1827Ter,ENST00000508053,;FBN2,stop_gained,p.Gln1827Ter,ENST00000262464,NM_001999.3;							HIGH	5479/8739	Q1827*	FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
KCNU1	0	LGGM	GRCh37	8	36790466	36790466	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	85	18	.	.	ENST00000399881.3:c.2960G>A	p.Cys987Tyr	p.C987Y	ENST00000399881	NM_001031836.2	987	tGt/tAt	0	1	1	UPI0000F079EF	0	getma.org/pdb.php?prot=KCNU1_HUMAN&from=959&to=1149&var=C987Y	ENST00000399881		ENSG00000215262	18867		103	1.79		HGNC	p.C987Y		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36790466,G,A&fts=all		hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		C/Y		A	low	2997/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=959&re=1149&var=C987Y	deleterious(0)				YES	KCNU1,missense_variant,p.Cys987Tyr,ENST00000399881,NM_001031836.2;KCNU1,downstream_gene_variant,,ENST00000518904,;KCNU1,3_prime_UTR_variant,,ENST00000522372,;							MODERATE	2960/3450	C987Y	KCNU1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000382770		CCDS55220.1			1	
ZNF292	0	LGGM	GRCh37	6	87966608	87966608	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	105	18	.	.	ENST00000369577.3:c.3261A>G	p.Pro1087=	p.P1087=	ENST00000369577	NM_015021.1	1087	ccA/ccG	0	1	1	UPI000020D2CC	0		ENST00000369577		ENSG00000188994	18410		123			HGNC	p.P1087P		ZNF292		SNV							ENST00000369577	protein_coding			hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14		P		G		3304/10610				Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN			YES	ZNF292,synonymous_variant,p.=,ENST00000369577,NM_015021.1;ZNF292,synonymous_variant,p.=,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;							LOW	3261/8172		ZN292_HUMAN			Transcript			.	ENSP00000358590		CCDS47457.1			1	
USP18	0	LGGM	GRCh37	22	18642941	18642941	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	102	18	.	.	ENST00000215794.7:c.160C>T	p.Leu54=	p.L54=	ENST00000215794	NM_017414.3	54	Ctg/Ttg	0	1	1	UPI000003772C	0		ENST00000215794		ENSG00000184979	12616		120			HGNC	p.L54L		USP18		SNV							ENST00000215794	protein_coding			hmmpanther:PTHR24006:SF362,hmmpanther:PTHR24006,Superfamily_domains:SSF54001		L		T		590/2129				Q53Y90_HUMAN			YES	USP18,splice_region_variant,p.=,ENST00000215794,NM_017414.3;							LOW	160/1119		UBP18_HUMAN			Transcript			.	ENSP00000215794		CCDS13752.1			1	
RPTOR	0	LGGM	GRCh37	17	78865577	78865577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	60	19	.	.	ENST00000306801.3:c.2041G>A	p.Val681Met	p.V681M	ENST00000306801	NM_020761.2	681	Gtg/Atg	0	1	1	UPI000007000F	0	NA	ENST00000306801		ENSG00000141564	30287		79	1.585		HGNC	p.V681M		RPTOR		SNV							ENST00000306801	protein_coding	getma.org/?cm=var&var=hg19,17,78865577,G,A&fts=all		hmmpanther:PTHR12848		V/M		A	low	2403/6408		getma.org/?cm=msa&ty=f&p=RPTOR_HUMAN&rb=631&re=830&var=V681M	deleterious(0)	Q6DKI0_HUMAN			YES	RPTOR,missense_variant,p.Val681Met,ENST00000306801,NM_020761.2;RPTOR,missense_variant,p.Val523Met,ENST00000544334,NM_001163034.1;RPTOR,non_coding_transcript_exon_variant,,ENST00000575542,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;							MODERATE	2041/4008	V681M	RPTOR_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000307272		CCDS11773.1			1	
CCDC79	0	LGGM	GRCh37	16	66804143	66804143	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	97	20	.	.	ENST00000433154.1:c.1342A>T	p.Lys448Ter	p.K448*	ENST00000433154	NM_001136505.1	448	Aaa/Taa	0	1	1	UPI000166287A	0	NA	ENST00000433154		ENSG00000249961	26675		117	0		HGNC	p.K448X		CCDC79		SNV							ENST00000433574	protein_coding	getma.org/?cm=var&var=hg19,16,66804143,T,A&fts=all		hmmpanther:PTHR14014,hmmpanther:PTHR14014:SF0		K/*		A	NA	1604/2446		NA		J3KSG9_HUMAN			YES	CCDC79,stop_gained,p.Lys448Ter,ENST00000433154,NM_001136505.1;CCDC79,stop_gained,p.Lys448Ter,ENST00000433574,;CCDC79,stop_gained,p.Lys448Ter,ENST00000432602,;CCDC79,stop_gained,p.Lys448Ter,ENST00000558713,;CCDC79,stop_gained,p.Lys406Ter,ENST00000415744,;CCDC79,non_coding_transcript_exon_variant,,ENST00000561333,;CCDC79,stop_gained,p.Lys406Ter,ENST00000313294,;							HIGH	1342/2184	K448*	CCD79_HUMAN			Transcript			.	ENSP00000463762					1	
OTOGL	0	LGGM	GRCh37	12	80747146	80747146	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	84	20	.	.	ENST00000458043.2:c.5422C>T	p.Arg1808Ter	p.R1808*	ENST00000458043	NM_173591.3	1808	Cga/Tga	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901	0.000541	104	0		HGNC	p.R1796X	rs768620276,COSM3688555,COSM3688554	OTOGL		SNV			1			0,1,1	ENST00000547103	protein_coding	getma.org/?cm=var&var=hg19,12,80747146,C,T&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Superfamily_domains:SSF57567		R/*		T	NA	5392/8032	6.67E-05	NA		E2QRK2_HUMAN				OTOGL,stop_gained,p.Arg1808Ter,ENST00000458043,NM_173591.3;OTOGL,stop_gained,p.Arg1796Ter,ENST00000547103,;OTOGL,stop_gained,p.Arg251Ter,ENST00000298820,;OTOGL,upstream_gene_variant,,ENST00000546620,;OTOGL,upstream_gene_variant,,ENST00000550182,;OTOGL,upstream_gene_variant,,ENST00000551340,;					0,1,1		HIGH	5386/6999	R173*	OTOGL_HUMAN			Transcript			common_variant	ENSP00000447211	4.97E-05				1	
ZNF292	0	LGGM	GRCh37	6	87968525	87968525	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091449	H091449N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	98	20	.	.	ENST00000369577.3:c.5178T>C	p.Gly1726=	p.G1726=	ENST00000369577	NM_015021.1	1726	ggT/ggC	0	1	1	UPI000020D2CC	0		ENST00000369577		ENSG00000188994	18410		118			HGNC	p.G1726G		ZNF292		SNV							ENST00000369577	protein_coding			hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14		G		C		5221/10610				Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN			YES	ZNF292,synonymous_variant,p.=,ENST00000369577,NM_015021.1;ZNF292,synonymous_variant,p.=,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,downstream_gene_variant,,ENST00000466062,;							LOW	5178/8172		ZN292_HUMAN			Transcript			.	ENSP00000358590		CCDS47457.1			1	
ZNF76	0	LGGM	GRCh37	6	35258075	35258075	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	112	21	.	.	ENST00000373953.3:c.465A>T	p.Gly155=	p.G155=	ENST00000373953	NM_003427.3	155	ggA/ggT	0	1	1	UPI000013C41C	0		ENST00000373953		ENSG00000065029	13149		133			HGNC	p.G155G		ZNF76		SNV							ENST00000373953	protein_coding			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF448		G		T		731/2716				E7EX64_HUMAN			YES	ZNF76,synonymous_variant,p.=,ENST00000373953,NM_003427.3;ZNF76,synonymous_variant,p.=,ENST00000440666,;ZNF76,synonymous_variant,p.=,ENST00000339411,;ZNF76,synonymous_variant,p.=,ENST00000469195,;ZNF76,upstream_gene_variant,,ENST00000498555,;ZNF76,3_prime_UTR_variant,,ENST00000229405,;ZNF76,non_coding_transcript_exon_variant,,ENST00000486891,;ZNF76,downstream_gene_variant,,ENST00000491400,;ZNF76,downstream_gene_variant,,ENST00000484932,;ZNF76,upstream_gene_variant,,ENST00000479226,;ZNF76,downstream_gene_variant,,ENST00000460229,;							LOW	465/1713		ZNF76_HUMAN			Transcript			.	ENSP00000363064		CCDS4801.1			1	
CDK7	0	LGGM	GRCh37	5	68551333	68551333	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	142	23	.	.	ENST00000256443.3:c.275A>G	p.Asp92Gly	p.D92G	ENST00000256443	NM_001799.3	92	gAt/gGt	0	1	1	UPI0000127431	0	getma.org/pdb.php?prot=CDK7_HUMAN&from=12&to=295&var=D92G	ENST00000256443		ENSG00000134058	1778		165	2.435		HGNC	p.D92G		CDK7		SNV							ENST00000514676	protein_coding	getma.org/?cm=var&var=hg19,5,68551333,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF0,hmmpanther:PTHR24056,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/G		G	medium	378/1432		getma.org/?cm=msa&ty=f&p=CDK7_HUMAN&rb=12&re=295&var=D92G	deleterious(0.02)	D6REC6_HUMAN,D6R9G1_HUMAN			YES	CDK7,missense_variant,p.Asp92Gly,ENST00000256443,NM_001799.3;CDK7,missense_variant,p.Asp92Gly,ENST00000514676,;CDK7,5_prime_UTR_variant,,ENST00000502604,;CDK7,5_prime_UTR_variant,,ENST00000506563,;CDK7,non_coding_transcript_exon_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,,ENST00000515180,;CDK7,non_coding_transcript_exon_variant,,ENST00000512687,;CDK7,intron_variant,,ENST00000508726,;CDK7,intron_variant,,ENST00000506789,;							MODERATE	275/1041	D92G	CDK7_HUMAN			Transcript		benign(0.04)	.	ENSP00000256443		CCDS3999.1			1	
UNC13C	0	LGGM	GRCh37	15	54586105	54586105	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	78	30	.	.	ENST00000260323.11:c.3831C>G	p.Asn1277Lys	p.N1277K	ENST00000260323	NM_001080534.1	1277	aaC/aaG	0	1	1	UPI0000DD82AB	0	getma.org/pdb.php?prot=UN13C_HUMAN&from=1222&to=1313&var=N1277K	ENST00000260323		ENSG00000137766	23149		108	0.38		HGNC	p.N1275K		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54586105,C,G&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,SMART_domains:SM00239,Superfamily_domains:SSF49562		N/K		G	neutral	3831/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1222&re=1313&var=N1277K	deleterious_low_confidence(0)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Asn1277Lys,ENST00000545554,;UNC13C,missense_variant,p.Asn1275Lys,ENST00000537900,;UNC13C,missense_variant,p.Asn1277Lys,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;							MODERATE	3831/6645	N1277K	UN13C_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000260323		CCDS45264.1			1	
C1orf85	0	LGGM	GRCh37	1	156264572	156264572	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091449	H091449N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	116	35	.	.	ENST00000362007.1:c.356C>T	p.Ser119Phe	p.S119F	ENST00000362007	NM_001256609.1	119	tCt/tTt	0	1	1	UPI00000361F7	0	NA	ENST00000362007		ENSG00000198715	29436		151	2.175		HGNC	p.S119F		C1orf85		SNV							ENST00000362007	protein_coding	getma.org/?cm=var&var=hg19,1,156264572,G,A&fts=all		Pfam_domain:PF15065,hmmpanther:PTHR31981,hmmpanther:PTHR31981:SF1		S/F		A	medium	383/1604		getma.org/?cm=msa&ty=f&p=NCUG1_HUMAN&rb=1&re=404&var=S119F	deleterious(0)				YES	C1orf85,missense_variant,p.Ser119Phe,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,missense_variant,p.Ser119Phe,ENST00000472870,;C1orf85,non_coding_transcript_exon_variant,,ENST00000479084,;C1orf85,intron_variant,,ENST00000484214,;C1orf85,intron_variant,,ENST00000368264,;C1orf85,intron_variant,,ENST00000476177,;C1orf85,upstream_gene_variant,,ENST00000497955,;C1orf85,upstream_gene_variant,,ENST00000461597,;							MODERATE	356/1221	S119F	NCUG1_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000354553		CCDS1139.1			1	
PRUNE2	0	LGGM	GRCh37	9	79323773	79323773	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	84	35	.	.	ENST00000376718.3:c.3417T>A	p.Asp1139Glu	p.D1139E	ENST00000376718	NM_015225.2	1139	gaT/gaA	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		119	0.975		HGNC	p.D1139E		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79323773,A,T&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		D/E		T	low	3541/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=965&re=1164&var=D1139E	deleterious(0.02)				YES	PRUNE2,missense_variant,p.Asp780Glu,ENST00000428286,;PRUNE2,missense_variant,p.Asp1139Glu,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Asp461Glu,ENST00000426088,;							MODERATE	3417/9267	D1139E	PRUN2_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000365908		CCDS47982.1			1	
DST	0	LGGM	GRCh37	6	56418362	56418362	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091449	H091449N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	145	38	.	.	ENST00000244364.6:c.7359G>A	p.Lys2453=	p.K2453=	ENST00000244364	NM_015548.4	2453	aaG/aaA	0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		183			HGNC	p.K2453K		DST		SNV			1				ENST00000244364	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966		K		T		7567/16742				Q86T18_HUMAN			YES	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,downstream_gene_variant,,ENST00000520144,;							LOW	7359/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
GPR89A	0	LGGM	GRCh37	1	145765385	145765385	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	201	86	.	.	ENST00000313835.9:c.1145T>A	p.Leu382Gln	p.L382Q	ENST00000313835		382	cTa/cAa	0	1	1	UPI00000389CC	0	NA	ENST00000313835		ENSG00000117262	31984		287	2.095		HGNC	p.L357Q		GPR89A		SNV							ENST00000462900	protein_coding	getma.org/?cm=var&var=hg19,1,145765385,A,T&fts=all		Pfam_domain:PF12430,hmmpanther:PTHR15948,Transmembrane_helices:TMhelix		L/Q		T	medium	1289/2120		getma.org/?cm=msa&ty=f&p=GPHRA_HUMAN&rb=273&re=448&var=L382Q	deleterious(0.02)				YES	GPR89A,missense_variant,p.Leu382Gln,ENST00000313835,;GPR89A,missense_variant,p.Leu262Gln,ENST00000454423,NM_001097612.1;GPR89A,missense_variant,p.Leu357Gln,ENST00000534502,NM_001097613.2;GPR89A,missense_variant,p.Leu357Gln,ENST00000462900,;PDZK1,downstream_gene_variant,,ENST00000344770,NM_002614.4;PDZK1,downstream_gene_variant,,ENST00000417171,NM_001201325.1;PDZK1,downstream_gene_variant,,ENST00000451928,NM_001201326.1;PDZK1,downstream_gene_variant,,ENST00000465595,;PDZK1,downstream_gene_variant,,ENST00000429537,;PDZK1,downstream_gene_variant,,ENST00000466386,;GPR89A,3_prime_UTR_variant,,ENST00000460277,;GPR89A,non_coding_transcript_exon_variant,,ENST00000493684,;GPR89A,non_coding_transcript_exon_variant,,ENST00000465185,;							MODERATE	1145/1368	L382Q	GPHRA_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000319673		CCDS41377.1			1	
GPR89A	0	LGGM	GRCh37	1	145765382	145765382	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091449	H091449N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	199	88	.	.	ENST00000313835.9:c.1148T>A	p.Leu383Ter	p.L383*	ENST00000313835		383	tTa/tAa	0	1	1	UPI00000389CC	0	NA	ENST00000313835		ENSG00000117262	31984		287	0		HGNC	p.L358X		GPR89A		SNV							ENST00000462900	protein_coding	getma.org/?cm=var&var=hg19,1,145765382,A,T&fts=all		Pfam_domain:PF12430,hmmpanther:PTHR15948,Transmembrane_helices:TMhelix		L/*		T	NA	1292/2120		NA					YES	GPR89A,stop_gained,p.Leu383Ter,ENST00000313835,;GPR89A,stop_gained,p.Leu263Ter,ENST00000454423,NM_001097612.1;GPR89A,stop_gained,p.Leu358Ter,ENST00000534502,NM_001097613.2;GPR89A,stop_gained,p.Leu358Ter,ENST00000462900,;PDZK1,downstream_gene_variant,,ENST00000344770,NM_002614.4;PDZK1,downstream_gene_variant,,ENST00000417171,NM_001201325.1;PDZK1,downstream_gene_variant,,ENST00000451928,NM_001201326.1;PDZK1,downstream_gene_variant,,ENST00000465595,;PDZK1,downstream_gene_variant,,ENST00000429537,;PDZK1,downstream_gene_variant,,ENST00000466386,;GPR89A,3_prime_UTR_variant,,ENST00000460277,;GPR89A,non_coding_transcript_exon_variant,,ENST00000493684,;GPR89A,non_coding_transcript_exon_variant,,ENST00000465185,;							HIGH	1148/1368	L383*	GPHRA_HUMAN			Transcript			.	ENSP00000319673		CCDS41377.1			1	
ICAM1	0	LGGM	GRCh37	19	10381890	10381890	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	2	2	.	.	ENST00000264832.3:c.55G>C	p.Ala19Pro	p.A19P	ENST00000264832	NM_000201.2	19	Gct/Cct	0	1	1	UPI000000D91C	0	NA	ENST00000264832		ENSG00000090339	5344		4	1.845		HGNC	p.A19P		ICAM1		SNV			1				ENST00000588645	protein_coding	getma.org/?cm=var&var=hg19,19,10381890,G,C&fts=all		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF5		A/P		C	low	380/3252		getma.org/?cm=msa&ty=f&p=ICAM1_HUMAN&rb=1&re=53&var=A19P	tolerated(0.12)	B4DNT6_HUMAN			YES	ICAM1,missense_variant,p.Ala19Pro,ENST00000264832,NM_000201.2;ICAM1,missense_variant,p.Ala19Pro,ENST00000423829,;ICAM1,missense_variant,p.Ala19Pro,ENST00000588645,;CTD-2369P2.5,intron_variant,,ENST00000592893,;							MODERATE	55/1599	A19P	ICAM1_HUMAN			Transcript		unknown(0)	.	ENSP00000264832		CCDS12231.1			1	
OXER1	0	LGGM	GRCh37	2	42990788	42990788	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	7	2	.	.	ENST00000378661.2:c.532G>A	p.Ala178Thr	p.A178T	ENST00000378661	NM_148962.4	178	Gcc/Acc	0	1	1	UPI000003BCC9	0	getma.org/pdb.php?prot=OXER1_HUMAN&from=109&to=355&var=A178T	ENST00000378661		ENSG00000162881	24884		9	1.34		HGNC	p.A178T		OXER1		SNV							ENST00000378661	protein_coding	getma.org/?cm=var&var=hg19,2,42990788,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF1,hmmpanther:PTHR24231,PROSITE_patterns:PS00237,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		A/T		T	low	614/1760		getma.org/?cm=msa&ty=f&p=OXER1_HUMAN&rb=109&re=355&var=A178T	deleterious(0)				YES	OXER1,missense_variant,p.Ala178Thr,ENST00000378661,NM_148962.4;HAAO,downstream_gene_variant,,ENST00000294973,NM_012205.2;HAAO,downstream_gene_variant,,ENST00000402698,;HAAO,downstream_gene_variant,,ENST00000406007,;HAAO,downstream_gene_variant,,ENST00000404451,;							MODERATE	532/1272	A178T	OXER1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367930		CCDS1810.1			1	
IQCE	0	LGGM	GRCh37	7	2622226	2622226	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	10	2	.	.	ENST00000402050.2:c.643C>A	p.Leu215Met	p.L215M	ENST00000402050	NM_152558.3	215	Ctg/Atg	0	1	1	UPI000020E9EF	0	NA	ENST00000402050		ENSG00000106012	29171		12	2.33		HGNC	p.L150M		IQCE		SNV							ENST00000325979	protein_coding	getma.org/?cm=var&var=hg19,7,2622226,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22590		L/M		A	medium	827/6844		getma.org/?cm=msa&ty=f&p=IQCE_HUMAN&rb=201&re=400&var=L215M	deleterious(0)	C9JX25_HUMAN,C9JP75_HUMAN			YES	IQCE,missense_variant,p.Leu215Met,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,missense_variant,p.Leu164Met,ENST00000404984,;IQCE,missense_variant,p.Leu150Met,ENST00000325979,;IQCE,missense_variant,p.Leu199Met,ENST00000438376,NM_001287500.1;IQCE,missense_variant,p.Leu22Met,ENST00000427817,;IQCE,downstream_gene_variant,,ENST00000415271,;IQCE,downstream_gene_variant,,ENST00000423395,;IQCE,downstream_gene_variant,,ENST00000422276,;IQCE,non_coding_transcript_exon_variant,,ENST00000497572,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;							MODERATE	643/2088	L215M	IQCE_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000385597		CCDS43542.1			1	
RASSF2	0	LGGM	GRCh37	20	4771245	4771245	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	11	2	.	.	ENST00000379400.3:c.389T>C	p.Leu130Pro	p.L130P	ENST00000379400	NM_014737.2	130	cTg/cCg	0	1		UPI0000001C0A	0	NA	ENST00000379376		ENSG00000101265	9883		13	1.61		HGNC	p.L130P		RASSF2		SNV							ENST00000379400	protein_coding	getma.org/?cm=var&var=hg19,20,4771245,A,G&fts=all		hmmpanther:PTHR22738:SF14,hmmpanther:PTHR22738		L/P		G	low	443/5282		getma.org/?cm=msa&ty=f&p=RASF2_HUMAN&rb=1&re=175&var=L130P	tolerated(0.3)					RASSF2,missense_variant,p.Leu130Pro,ENST00000379400,NM_014737.2;RASSF2,missense_variant,p.Leu130Pro,ENST00000379376,NM_170774.1;RASSF2,non_coding_transcript_exon_variant,,ENST00000478553,;							MODERATE	389/981	L130P	RASF2_HUMAN			Transcript		benign(0.282)	.	ENSP00000368684		CCDS13083.1			1	
PRR12	0	LGGM	GRCh37	19	50099469	50099469	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	8	2	.	.	ENST00000418929.2:c.1877C>T	p.Ala626Val	p.A626V	ENST00000418929	NM_020719.1	626	gCg/gTg	0	1	1	UPI0001596889	0		ENST00000418929		ENSG00000126464	29217		10			HGNC	p.A626V		PRR12	6.17E-05	SNV				0.000122			ENST00000418929	protein_coding			hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF1		A/V		T		1889/6955							YES	PRR12,missense_variant,p.Ala626Val,ENST00000418929,NM_020719.1;							MODERATE	1877/6111		PRR12_HUMAN			Transcript		possibly_damaging(0.695)	.	ENSP00000394510	1.66E-05	CCDS46143.1			1	
TNFRSF13B	0	LGGM	GRCh37	17	16875331	16875331	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	17	3	.	.	ENST00000261652.2:c.59G>T	p.Arg20Leu	p.R20L	ENST00000261652	NM_012452.2	20	cGc/cTc	0	1	1	UPI00000347FC	0	NA	ENST00000261652		ENSG00000240505	18153		20	0		HGNC	p.R20L		TNFRSF13B		SNV			1				ENST00000579315	protein_coding	getma.org/?cm=var&var=hg19,17,16875331,C,A&fts=all		hmmpanther:PTHR15511,hmmpanther:PTHR15511:SF2		R/L		A	neutral	72/1357		getma.org/?cm=msa&ty=f&p=TR13B_HUMAN&rb=1&re=31&var=R20L	tolerated_low_confidence(0.81)	Q4ACX1_HUMAN			YES	TNFRSF13B,missense_variant,p.Arg20Leu,ENST00000437538,;TNFRSF13B,missense_variant,p.Arg20Leu,ENST00000261652,NM_012452.2;TNFRSF13B,missense_variant,p.Arg20Leu,ENST00000583789,;TNFRSF13B,missense_variant,p.Arg20Leu,ENST00000579315,;AC104024.1,downstream_gene_variant,,ENST00000428142,;TNFRSF13B,splice_region_variant,,ENST00000581616,;TNFRSF13B,missense_variant,p.Arg20Leu,ENST00000584950,;TNFRSF13B,splice_region_variant,,ENST00000582931,;							MODERATE	59/882	R20L	TR13B_HUMAN			Transcript		benign(0)	.	ENSP00000261652		CCDS11181.1			1	
DPP6	0	LGGM	GRCh37	7	154379545	154379545	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	45	3	.	.	ENST00000377770.3:c.628-49986G>T		*210*	ENST00000377770				0	1	1	UPI00001AE746	0		ENST00000377770		ENSG00000130226	3010		48			HGNC	p.L271F		DPP6		SNV			1				ENST00000406326	protein_coding							T		-/3710				Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,missense_variant,p.Leu271Phe,ENST00000406326,;DPP6,intron_variant,,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,intron_variant,,ENST00000332007,;DPP6,intron_variant,,ENST00000377770,;DPP6,intron_variant,,ENST00000427557,;DPP6,downstream_gene_variant,,ENST00000496611,;							MODIFIER	-/2598		DPP6_HUMAN			Transcript			.	ENSP00000367001					1	
TECTA	0	LGGM	GRCh37	11	121000852	121000852	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	39	3	.	.	ENST00000392793.1:c.2873C>A	p.Ala958Asp	p.A958D	ENST00000392793		958	gCc/gAc	0	1		UPI000045659D	0	NA	ENST00000264037		ENSG00000109927	11720		42	3.175		HGNC	p.A958D		TECTA		SNV			1				ENST00000392793	protein_coding	getma.org/?cm=var&var=hg19,11,121000852,C,A&fts=all		hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832		A/D		A	medium	2873/6468		getma.org/?cm=msa&ty=f&p=TECTA_HUMAN&rb=905&re=981&var=A958D	tolerated(0.33)					TECTA,missense_variant,p.Ala958Asp,ENST00000392793,;TECTA,missense_variant,p.Ala958Asp,ENST00000264037,NM_005422.2;							MODERATE	2873/6468	A958D	TECTA_HUMAN			Transcript		benign(0.232)	.	ENSP00000264037		CCDS8434.1			1	
DNM1	0	LGGM	GRCh37	9	130984828	130984828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	44	3	.	.	ENST00000372923.3:c.1081C>A	p.Arg361Ser	p.R361S	ENST00000372923	NM_004408.2	361	Cgc/Agc	0	1	1	UPI000013CA31	0	getma.org/pdb.php?prot=DYN1_HUMAN&from=216&to=511&var=R361S	ENST00000372923		ENSG00000106976	2972		47	3.435		HGNC	p.R361S		DNM1		SNV			1				ENST00000486160	protein_coding	getma.org/?cm=var&var=hg19,9,130984828,C,A&fts=all		Pfam_domain:PF01031,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32		R/S		A	medium	1173/3221		getma.org/?cm=msa&ty=f&p=DYN1_HUMAN&rb=216&re=511&var=R361S	deleterious(0)				YES	DNM1,missense_variant,p.Arg361Ser,ENST00000341179,NM_001005336.1;DNM1,missense_variant,p.Arg361Ser,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,missense_variant,p.Arg361Ser,ENST00000393594,NM_001288737.1;DNM1,missense_variant,p.Arg361Ser,ENST00000486160,;DNM1,missense_variant,p.Arg361Ser,ENST00000475805,NM_001288738.1;DNM1,synonymous_variant,p.=,ENST00000482638,;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;							MODERATE	1081/2595	R361S	DYN1_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000362014		CCDS6895.1			1	
GOT2	0	LGGM	GRCh37	16	58750635	58750635	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	34	3	.	.	ENST00000245206.5:c.785G>A	p.Arg262His	p.R262H	ENST00000245206	NM_002080.2	262	cGc/cAc	0	1	1	UPI000013CB99	0	getma.org/pdb.php?prot=AATM_HUMAN&from=57&to=425&var=R262H	ENST00000245206		ENSG00000125166	4433		37	3.32		HGNC	p.R262H		GOT2		SNV							ENST00000245206	protein_coding	getma.org/?cm=var&var=hg19,16,58750635,C,T&fts=all		Gene3D:3.40.640.10,Pfam_domain:PF00155,hmmpanther:PTHR11879,Superfamily_domains:SSF53383		R/H		T	medium	914/2462		getma.org/?cm=msa&ty=f&p=AATM_HUMAN&rb=57&re=425&var=R262H	deleterious(0.01)				YES	GOT2,missense_variant,p.Arg262His,ENST00000245206,NM_002080.2;GOT2,missense_variant,p.Arg219His,ENST00000434819,NM_001286220.1;GOT2,intron_variant,,ENST00000564400,;GOT2,downstream_gene_variant,,ENST00000492378,;GOT2,downstream_gene_variant,,ENST00000496461,;GOT2,upstream_gene_variant,,ENST00000494627,;GOT2,downstream_gene_variant,,ENST00000568368,;							MODERATE	785/1293	R262H	AATM_HUMAN			Transcript		possibly_damaging(0.699)	.	ENSP00000245206		CCDS10801.1			1	
MYO18A	0	LGGM	GRCh37	17	27419378	27419378	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	40	3	.	.	ENST00000527372.1:c.5170G>A	p.Ala1724Thr	p.A1724T	ENST00000527372	NM_078471.3	1724	Gcc/Acc	0	1	1	UPI0000167F32	0	NA	ENST00000527372		ENSG00000196535	31104		43	-0.895		HGNC	p.A1724T	rs772860716	MYO18A		SNV							ENST00000531253	protein_coding	getma.org/?cm=var&var=hg19,17,27419378,C,T&fts=all		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293,Coiled-coils_(Ncoils):Coil		A/T		T	neutral	5351/7597	6.26E-05	getma.org/?cm=msa&ty=f&p=MY18A_HUMAN&rb=1248&re=1841&var=A1724T	tolerated(0.55)				YES	MYO18A,missense_variant,p.Ala1724Thr,ENST00000527372,NM_078471.3;MYO18A,missense_variant,p.Ala1724Thr,ENST00000354329,;MYO18A,missense_variant,p.Ala1687Thr,ENST00000533112,;MYO18A,missense_variant,p.Ala1724Thr,ENST00000531253,NM_203318.1;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,downstream_gene_variant,,ENST00000530557,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000533652,;							MODERATE	5170/6165	A1724T	MY18A_HUMAN			Transcript		benign(0.083)	.	ENSP00000437073	4.12E-05	CCDS45642.1			1	
C15orf62	0	LGGM	GRCh37	15	41063072	41063072	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	13	3	.	.	ENST00000344320.6:c.379G>C	p.Gly127Arg	p.G127R	ENST00000344320	NM_001130448.2	127	Ggc/Cgc	0	1	1	UPI00001FE27C	0	NA	ENST00000344320		ENSG00000188277	34489		16	0.345		HGNC	p.G127R		C15orf62		SNV							ENST00000344320	protein_coding	getma.org/?cm=var&var=hg19,15,41063072,G,C&fts=all		hmmpanther:PTHR15344,hmmpanther:PTHR15344:SF8,Pfam_domain:PF14957		G/R		C	neutral	914/2485		getma.org/?cm=msa&ty=f&p=CO062_HUMAN&rb=1&re=173&var=G127R	tolerated(0.47)				YES	C15orf62,missense_variant,p.Gly127Arg,ENST00000344320,NM_001130448.2;DNAJC17,intron_variant,,ENST00000220496,NM_018163.2;GCHFR,downstream_gene_variant,,ENST00000558467,;GCHFR,downstream_gene_variant,,ENST00000260447,NM_005258.2;GCHFR,downstream_gene_variant,,ENST00000559932,;GCHFR,downstream_gene_variant,,ENST00000559445,;GCHFR,downstream_gene_variant,,ENST00000561160,;DNAJC17,upstream_gene_variant,,ENST00000558727,;GCHFR,downstream_gene_variant,,ENST00000558670,;DNAJC17,intron_variant,,ENST00000559238,;DNAJC17,intron_variant,,ENST00000561110,;DNAJC17,downstream_gene_variant,,ENST00000560301,;DNAJC17,downstream_gene_variant,,ENST00000560645,;DNAJC17,downstream_gene_variant,,ENST00000561018,;DNAJC17,downstream_gene_variant,,ENST00000559310,;DNAJC17,downstream_gene_variant,,ENST00000560065,;DNAJC17,downstream_gene_variant,,ENST00000558769,;							MODERATE	379/528	G127R	CO062_HUMAN			Transcript		benign(0.106)	.	ENSP00000341178		CCDS45229.1			1	
ADCK2	0	LGGM	GRCh37	7	140373947	140373947	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	26	3	.	.	ENST00000072869.4:c.817C>A	p.Leu273Ile	p.L273I	ENST00000072869	NM_052853.3	273	Cta/Ata	0	1	1	UPI000003C962	0	NA	ENST00000072869		ENSG00000133597	19039		29	1.61		HGNC	p.L273I		ADCK2		SNV							ENST00000476491	protein_coding	getma.org/?cm=var&var=hg19,7,140373947,C,A&fts=all		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF6		L/I		A	low	995/2377		getma.org/?cm=msa&ty=f&p=ADCK2_HUMAN&rb=200&re=618&var=L273I	tolerated(0.15)	A4D1T6_HUMAN			YES	ADCK2,missense_variant,p.Leu273Ile,ENST00000072869,NM_052853.3;ADCK2,missense_variant,p.Leu273Ile,ENST00000476491,;ADCK2,missense_variant,p.Leu111Ile,ENST00000483369,;DENND2A,upstream_gene_variant,,ENST00000489552,;ADCK2,upstream_gene_variant,,ENST00000498423,;							MODERATE	817/1881	L273I	ADCK2_HUMAN			Transcript		benign(0.022)	.	ENSP00000072869		CCDS5861.1			1	
TTF2	0	LGGM	GRCh37	1	117618337	117618337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	30	3	.	.	ENST00000369466.4:c.1131C>A	p.Asp377Glu	p.D377E	ENST00000369466	NM_003594.3	377	gaC/gaA	0	1	1	UPI000013CCE7	0	NA	ENST00000369466		ENSG00000116830	12398		33	1.04		HGNC	p.D377E		TTF2		SNV							ENST00000369466	protein_coding	getma.org/?cm=var&var=hg19,1,117618337,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF573		D/E		A	low	1175/9462		getma.org/?cm=msa&ty=f&p=TTF2_HUMAN&rb=309&re=406&var=D377E	tolerated(0.15)				YES	TTF2,missense_variant,p.Asp377Glu,ENST00000369466,NM_003594.3;TTF2,non_coding_transcript_exon_variant,,ENST00000469638,;TTF2,downstream_gene_variant,,ENST00000470935,;							MODERATE	1131/3489	D377E	TTF2_HUMAN			Transcript		benign(0.055)	.	ENSP00000358478		CCDS892.1			1	
NSD1	0	LGGM	GRCh37	5	176696724	176696724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	38	3	.	.	ENST00000439151.2:c.5425C>A	p.Gln1809Lys	p.Q1809K	ENST00000439151	NM_022455.4	1809	Cag/Aag	0	1	1	UPI000006F9C6	0	getma.org/pdb.php?prot=NSD1_HUMAN&from=1753&to=1829&var=Q1809K	ENST00000439151		ENSG00000165671	14234		41	2.075		HGNC	p.Q23K		NSD1		SNV			1				ENST00000508029	protein_coding	getma.org/?cm=var&var=hg19,5,176696724,C,A&fts=all		Gene3D:2.30.30.160,Pfam_domain:PF00855,PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312,SMART_domains:SM00293,Superfamily_domains:SSF63748		Q/K		A	medium	5470/12892		getma.org/?cm=msa&ty=f&p=NSD1_HUMAN&rb=1753&re=1829&var=Q1809K	deleterious(0.02)	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,missense_variant,p.Gln1809Lys,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Gln1706Lys,ENST00000361032,;NSD1,missense_variant,p.Gln1540Lys,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Gln1540Lys,ENST00000347982,;NSD1,missense_variant,p.Gln23Lys,ENST00000503056,;NSD1,missense_variant,p.Gln23Lys,ENST00000508029,;NSD1,missense_variant,p.Gln23Lys,ENST00000515735,;NSD1,downstream_gene_variant,,ENST00000504457,;NSD1,downstream_gene_variant,,ENST00000505395,;CTD-2301A4.5,upstream_gene_variant,,ENST00000604252,;CTD-2301A4.3,downstream_gene_variant,,ENST00000460608,;							MODERATE	5425/8091	Q1809K	NSD1_HUMAN			Transcript		possibly_damaging(0.613)	.	ENSP00000395929		CCDS4412.1			1	
FHOD3	0	LGGM	GRCh37	18	34289245	34289245	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	42	3	.	.	ENST00000257209.4:c.1899C>A	p.Asn633Lys	p.N633K	ENST00000257209	NM_025135.2	633	aaC/aaA	0	1		UPI0000EE543D	0	NA	ENST00000359247		ENSG00000134775	26178		45	2.125		HGNC	p.N595K		FHOD3		SNV							ENST00000445677	protein_coding	getma.org/?cm=var&var=hg19,18,34289245,C,A&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213		N/K		A	medium	1848/4518		getma.org/?cm=msa&ty=f&p=FHOD3_HUMAN&rb=573&re=772&var=N616K	deleterious_low_confidence(0.01)					FHOD3,missense_variant,p.Asn633Lys,ENST00000257209,NM_025135.2;FHOD3,missense_variant,p.Asn808Lys,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Asn595Lys,ENST00000445677,;FHOD3,missense_variant,p.Asn616Lys,ENST00000359247,NM_001281739.1;FHOD3,missense_variant,p.Asn394Lys,ENST00000592930,;FHOD3,intron_variant,,ENST00000591635,;FHOD3,non_coding_transcript_exon_variant,,ENST00000587493,;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;							MODERATE	1848/4269	N616K	FHOD3_HUMAN			Transcript		benign(0.336)	.	ENSP00000352186		CCDS62419.1			1	
COL4A1	0	LGGM	GRCh37	13	110833727	110833727	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	10	3	.	.	ENST00000375820.4:c.2105G>T	p.Gly702Val	p.G702V	ENST00000375820	NM_001845.4	702	gGc/gTc	0	1	1	UPI00001FCA8A	0	NA	ENST00000375820		ENSG00000187498	2202		13	4.685		HGNC	p.G702V		COL4A1		SNV			1				ENST00000375820	protein_coding	getma.org/?cm=var&var=hg19,13,110833727,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391		G/V		A	high	2227/6524		getma.org/?cm=msa&ty=f&p=CO4A1_HUMAN&rb=689&re=737&var=G702V		A9LSU1_HUMAN			YES	COL4A1,missense_variant,p.Gly702Val,ENST00000375820,NM_001845.4;							MODERATE	2105/5010	G702V	CO4A1_HUMAN			Transcript		benign(0.172)	.	ENSP00000364979		CCDS9511.1			1	
SYNCRIP	0	LGGM	GRCh37	6	86322620	86322620	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	37	3	.	.	ENST00000503906.1:c.273G>T	p.Gly92Cys	p.G92C	ENST00000503906		92	Ggt/Tgt	0	1	1	UPI000013CF84	0	NA	ENST00000369622		ENSG00000135316	16918		40	0.345	1204	HGNC	p.G557C		SYNCRIP		SNV							ENST00000355238	protein_coding	getma.org/?cm=var&var=hg19,6,86322620,C,A&fts=all						A	neutral	-/3023		getma.org/?cm=msa&ty=f&p=B7Z645_HUMAN&rb=397&re=462&var=G459C		F6UXX1_HUMAN			YES	SYNCRIP,missense_variant,p.Gly557Cys,ENST00000355238,NM_001159677.1,NM_001253771.1,NM_001159676.1,NM_001159673.1,NM_001159674.1;SYNCRIP,downstream_gene_variant,,ENST00000369622,NM_001159675.1,NM_006372.4;RP11-321N4.5,missense_variant,p.Gly92Cys,ENST00000503906,;							MODIFIER	-/1872	G459C	HNRPQ_HUMAN			Transcript			.	ENSP00000358635		CCDS5005.1			1	
HSH2D	0	LGGM	GRCh37	19	16268548	16268548	+	downstream_gene_variant	3'Flank	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	33	3	.	.				ENST00000269878	NM_054113.2			0	1		UPI00017A7AD4	0		ENST00000535834		ENSG00000196684	24920		36		2077	HGNC	p.N244N	rs753804748	HSH2D		SNV				0.00012			ENST00000397372	nonsense_mediated_decay							T		-/982	1.67E-05			B4DT26_HUMAN			YES	HSH2D,synonymous_variant,p.=,ENST00000253680,;HSH2D,synonymous_variant,p.=,ENST00000397372,;HSH2D,3_prime_UTR_variant,,ENST00000593154,NM_032855.2;HSH2D,3_prime_UTR_variant,,ENST00000588246,;CIB3,downstream_gene_variant,,ENST00000269878,NM_054113.2;HSH2D,downstream_gene_variant,,ENST00000593031,;CIB3,downstream_gene_variant,,ENST00000379859,;CIB3,downstream_gene_variant,,ENST00000541493,;HSH2D,3_prime_UTR_variant,,ENST00000589463,;HSH2D,3_prime_UTR_variant,,ENST00000587963,;HSH2D,downstream_gene_variant,,ENST00000586872,;HSH2D,downstream_gene_variant,,ENST00000535834,;CIB3,downstream_gene_variant,,ENST00000597251,;HSH2D,downstream_gene_variant,,ENST00000591154,;							MODIFIER	-/489					Transcript			.	ENSP00000442140	1.65E-05				1	
EHD4	0	LGGM	GRCh37	15	42211541	42211541	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	34	3	.	.	ENST00000220325.4:c.791C>A	p.Pro264His	p.P264H	ENST00000220325	NM_139265.3	264	cCc/cAc	0	1	1	UPI0000129E25	0	getma.org/pdb.php?prot=EHD4_HUMAN&from=225&to=424&var=P264H	ENST00000220325		ENSG00000103966	3245		37	3.705		HGNC	p.P264H		EHD4		SNV							ENST00000220325	protein_coding	getma.org/?cm=var&var=hg19,15,42211541,G,T&fts=all		Superfamily_domains:SSF52540,hmmpanther:PTHR11216:SF57,hmmpanther:PTHR11216,PROSITE_profiles:PS51718		P/H		T	high	875/3603		getma.org/?cm=msa&ty=f&p=EHD4_HUMAN&rb=225&re=424&var=P264H	deleterious(0)				YES	EHD4,missense_variant,p.Pro264His,ENST00000220325,NM_139265.3;CTD-2382E5.4,upstream_gene_variant,,ENST00000564168,;							MODERATE	791/1626	P264H	EHD4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000220325		CCDS10081.1			1	
CREB3L2	0	LGGM	GRCh37	7	137613076	137613076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	26	3	.	.	ENST00000330387.6:c.139G>T	p.Val47Phe	p.V47F	ENST00000330387	NM_194071.3	47	Gtc/Ttc	0	1	1	UPI0000457614	0	NA	ENST00000330387		ENSG00000182158	23720		29	1.525		HGNC	p.V47F		CREB3L2		SNV			1				ENST00000330387	protein_coding	getma.org/?cm=var&var=hg19,7,137613076,C,A&fts=all		hmmpanther:PTHR22952:SF96,hmmpanther:PTHR22952		V/F		A	low	491/7412		getma.org/?cm=msa&ty=f&p=CR3L2_HUMAN&rb=1&re=200&var=V47F	deleterious(0.01)				YES	CREB3L2,missense_variant,p.Val47Phe,ENST00000330387,NM_194071.3;CREB3L2,missense_variant,p.Val47Phe,ENST00000456390,;CREB3L2,missense_variant,p.Val47Phe,ENST00000452463,NM_001253775.1;CREB3L2,5_prime_UTR_variant,,ENST00000458726,;CREB3L2,upstream_gene_variant,,ENST00000420629,;							MODERATE	139/1563	V47F	CR3L2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000329140		CCDS34760.1			1	
MEAF6	0	LGGM	GRCh37	1	37980257	37980257	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	4	4	.	.	ENST00000373075.2:c.90+1G>A		p.X30_splice	ENST00000373075	NM_022756.5			0	1		UPI0000072A76	0		ENST00000296214		ENSG00000163875	25674		8			HGNC	-		MEAF6		SNV							ENST00000373075	protein_coding							T		-/1525								MEAF6,splice_donor_variant,,ENST00000373075,NM_022756.5;MEAF6,splice_donor_variant,,ENST00000296214,NM_001270875.1;MEAF6,splice_donor_variant,,ENST00000448519,;MEAF6,splice_donor_variant,,ENST00000373073,NM_001270876.1;MEAF6,upstream_gene_variant,,ENST00000373074,;MEAF6,splice_donor_variant,,ENST00000475828,;MEAF6,splice_donor_variant,,ENST00000487788,;MEAF6,non_coding_transcript_exon_variant,,ENST00000487792,;MEAF6,upstream_gene_variant,,ENST00000485039,;							HIGH	90/576		EAF6_HUMAN			Transcript			.	ENSP00000296214		CCDS59196.1			1	
POLR3H	0	LGGM	GRCh37	22	41940093	41940093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	9	4	.	.	ENST00000355209.4:c.13G>T	p.Val5Leu	p.V5L	ENST00000355209	NM_001018050.2	5	Gtg/Ttg	0	1	1	UPI0000073CE5	0	getma.org/pdb.php?prot=RPC8_HUMAN&from=1&to=7&var=V5L	ENST00000355209		ENSG00000100413	30349		13	1.325		HGNC	p.V5L		POLR3H		SNV							ENST00000431534	protein_coding	getma.org/?cm=var&var=hg19,22,41940093,C,A&fts=all		Superfamily_domains:SSF88798,TIGRFAM_domain:TIGR00448,Gene3D:3.30.1490.120,hmmpanther:PTHR12709:SF1,hmmpanther:PTHR12709		V/L		A	low	357/4416		getma.org/?cm=msa&ty=f&p=RPC8_HUMAN&rb=1&re=37&var=V5L	deleterious(0.04)				YES	POLR3H,missense_variant,p.Val5Leu,ENST00000355209,NM_001018050.2;POLR3H,missense_variant,p.Val5Leu,ENST00000396504,NM_138338.3,NM_001282885.1,NM_001282884.1;POLR3H,missense_variant,p.Val5Leu,ENST00000337566,NM_001018052.2;POLR3H,missense_variant,p.Val5Leu,ENST00000407461,;POLR3H,non_coding_transcript_exon_variant,,ENST00000420561,;POLR3H,missense_variant,p.Val5Leu,ENST00000432789,;POLR3H,missense_variant,p.Val5Leu,ENST00000431534,;POLR3H,missense_variant,p.Val5Leu,ENST00000442616,;POLR3H,non_coding_transcript_exon_variant,,ENST00000483837,;							MODERATE	13/615	V5L	RPC8_HUMAN			Transcript		benign(0.001)	.	ENSP00000347345		CCDS14018.1			1	
PROSER1	0	LGGM	GRCh37	13	39598622	39598622	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	15	5	.	.	ENST00000352251.3:c.552G>T	p.Gly184=	p.G184=	ENST00000352251	NM_025138.4	184	ggG/ggT	0	1	1	UPI00001FCC65	0		ENST00000352251		ENSG00000120685	20291		20			HGNC	p.G162G		PROSER1		SNV							ENST00000350125	protein_coding			hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2		G		A		1386/5168							YES	PROSER1,synonymous_variant,p.=,ENST00000352251,NM_025138.4;PROSER1,synonymous_variant,p.=,ENST00000350125,;PROSER1,downstream_gene_variant,,ENST00000418503,;PROSER1,upstream_gene_variant,,ENST00000484434,;PROSER1,non_coding_transcript_exon_variant,,ENST00000496138,;PROSER1,downstream_gene_variant,,ENST00000602534,;PROSER1,upstream_gene_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000436678,;							LOW	552/2835		PRSR1_HUMAN			Transcript			.	ENSP00000332034		CCDS9368.2			1	
AXIN1	0	LGGM	GRCh37	16	396962	396962	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	15	5	.	.	ENST00000262320.3:c.64C>T	p.Arg22Ter	p.R22*	ENST00000262320	NM_003502.3	22	Cga/Tga	0	1	1	UPI000012669E	0	NA	ENST00000262320		ENSG00000103126	903		20	0		HGNC	p.R22X	COSM251422	AXIN1		SNV			1			1	ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,396962,G,A&fts=all		hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11		R/*		A	NA	436/3643		NA					YES	AXIN1,stop_gained,p.Arg22Ter,ENST00000262320,NM_003502.3;AXIN1,stop_gained,p.Arg22Ter,ENST00000354866,NM_181050.2;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;					1		HIGH	64/2589	R22*	AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
CBFA2T3	0	LGGM	GRCh37	16	88958817	88958817	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	10	5	.	.	ENST00000268679.4:c.456G>A	p.Pro152=	p.P152=	ENST00000268679	NM_005187.5	152	ccG/ccA	0	1	1	UPI0000167F93	0		ENST00000268679		ENSG00000129993	1537		15			HGNC	p.P66P	rs551002562	CBFA2T3	6.10E-05	SNV			1				ENST00000569443	protein_coding			hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6		P		T		853/4477	4.61E-05			H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN			YES	CBFA2T3,synonymous_variant,p.=,ENST00000268679,NM_005187.5;CBFA2T3,synonymous_variant,p.=,ENST00000360302,;CBFA2T3,synonymous_variant,p.=,ENST00000436887,;CBFA2T3,synonymous_variant,p.=,ENST00000448839,;CBFA2T3,synonymous_variant,p.=,ENST00000327483,NM_175931.2;CBFA2T3,synonymous_variant,p.=,ENST00000569464,;CBFA2T3,synonymous_variant,p.=,ENST00000563640,;CBFA2T3,synonymous_variant,p.=,ENST00000562719,;CBFA2T3,synonymous_variant,p.=,ENST00000569443,;	0.000467						LOW	456/1962		MTG16_HUMAN			Transcript			common_variant	ENSP00000268679	6.59E-05	CCDS10972.1			1	
SLCO2A1	0	LGGM	GRCh37	3	133666286	133666286	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	17	5	.	.	ENST00000310926.4:c.1109C>T	p.Ala370Val	p.A370V	ENST00000310926	NM_005630.2	370	gCt/gTt	0	1	1	UPI000013F0AD	0	NA	ENST00000310926		ENSG00000174640	10955		22	0.82		HGNC	p.A370V		SLCO2A1		SNV			1				ENST00000310926	protein_coding	getma.org/?cm=var&var=hg19,3,133666286,G,A&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF14,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix		A/V		A	low	1383/4223		getma.org/?cm=msa&ty=f&p=SO2A1_HUMAN&rb=31&re=603&var=A370V	deleterious(0)	Q4LEJ9_HUMAN			YES	SLCO2A1,missense_variant,p.Ala370Val,ENST00000310926,NM_005630.2;SLCO2A1,missense_variant,p.Ala294Val,ENST00000493729,;SLCO2A1,non_coding_transcript_exon_variant,,ENST00000462770,;SLCO2A1,intron_variant,,ENST00000481359,;SLCO2A1,downstream_gene_variant,,ENST00000464676,;SLCO2A1,downstream_gene_variant,,ENST00000477061,;							MODERATE	1109/1932	A370V	SO2A1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000311291		CCDS3084.1			1	
LAMA1	0	LGGM	GRCh37	18	6950927	6950927	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	10	5	.	.	ENST00000389658.3:c.8251C>T	p.Leu2751=	p.L2751=	ENST00000389658	NM_005559.3	2751	Ctg/Ttg	0	1	1	UPI00001C1FF9	0		ENST00000389658		ENSG00000101680	6481		15			HGNC	p.L2751L		LAMA1		SNV			1				ENST00000389658	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		L		A		8345/9657				Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;RP11-781P6.1,upstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;LAMA1,downstream_gene_variant,,ENST00000488089,;							LOW	8251/9228		LAMA1_HUMAN			Transcript			.	ENSP00000374309		CCDS32787.1			1	
CD6	0	LGGM	GRCh37	11	60783289	60783289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	38	6	.	.	ENST00000313421.7:c.1492G>T	p.Ala498Ser	p.A498S	ENST00000313421	NM_006725.4	498	Gcc/Tcc	0	1	1	UPI000013F532	0	NA	ENST00000313421		ENSG00000013725	1691		44	1.87		HGNC	p.A466S	rs753799158	CD6		SNV							ENST00000344028	protein_coding	getma.org/?cm=var&var=hg19,11,60783289,G,T&fts=all		hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF252		A/S		T	low	1678/3252	4.50E-05	getma.org/?cm=msa&ty=f&p=CD6_HUMAN&rb=362&re=561&var=A498S	deleterious(0.01)				YES	CD6,missense_variant,p.Ala498Ser,ENST00000313421,NM_006725.4;CD6,missense_variant,p.Ala466Ser,ENST00000344028,NM_001254750.1;CD6,missense_variant,p.Ala466Ser,ENST00000352009,;CD6,missense_variant,p.Ala365Ser,ENST00000433107,;CD6,intron_variant,,ENST00000346437,;CD6,intron_variant,,ENST00000452451,NM_001254751.1;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,,ENST00000419282,;CD6,upstream_gene_variant,,ENST00000505761,;							MODERATE	1492/2007	A498S	CD6_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000323280	2.47E-05	CCDS7999.1			1	
EML1	0	LGGM	GRCh37	14	100381016	100381016	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	18	6	.	.	ENST00000334192.4:c.1791C>G	p.Val597=	p.V597=	ENST00000334192	NM_001008707.1	597	gtC/gtG	0	1		UPI000013D278	0		ENST00000262233		ENSG00000066629	3330		24			HGNC	p.V566V		EML1		SNV							ENST00000327921	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF22,SMART_domains:SM00320,Superfamily_domains:SSF50998		V		G		1873/4535				G3V500_HUMAN,G3V4U5_HUMAN,G3V497_HUMAN				EML1,synonymous_variant,p.=,ENST00000262233,NM_004434.2;EML1,synonymous_variant,p.=,ENST00000334192,NM_001008707.1;EML1,synonymous_variant,p.=,ENST00000327921,;EML1,downstream_gene_variant,,ENST00000554386,;EML1,downstream_gene_variant,,ENST00000555812,;EML1,synonymous_variant,p.=,ENST00000557313,;EML1,non_coding_transcript_exon_variant,,ENST00000554111,;EML1,downstream_gene_variant,,ENST00000554553,;							LOW	1734/2448		EMAL1_HUMAN			Transcript			.	ENSP00000262233		CCDS32155.1			1	
ZDHHC17	0	LGGM	GRCh37	12	77236750	77236750	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	30	6	.	.	ENST00000426126.2:c.1318A>G	p.Ser440Gly	p.S440G	ENST00000426126	NM_015336.2	440	Agt/Ggt	0	1	1	UPI0000051F55	0	NA	ENST00000426126		ENSG00000186908	18412		36	1.605		HGNC	p.S440G		ZDHHC17		SNV							ENST00000426126	protein_coding	getma.org/?cm=var&var=hg19,12,77236750,A,G&fts=all		Pfam_domain:PF01529,hmmpanther:PTHR24161,hmmpanther:PTHR24161:SF18,PROSITE_profiles:PS50216		S/G		G	low	1967/5259		getma.org/?cm=msa&ty=f&p=ZDH17_HUMAN&rb=399&re=570&var=S440G	deleterious(0)	A8KA01_HUMAN			YES	ZDHHC17,missense_variant,p.Ser440Gly,ENST00000426126,NM_015336.2;ZDHHC17,missense_variant,p.Ser440Gly,ENST00000334822,;ZDHHC17,non_coding_transcript_exon_variant,,ENST00000550789,;ZDHHC17,upstream_gene_variant,,ENST00000553091,;ZDHHC17,downstream_gene_variant,,ENST00000549010,;ZDHHC17,upstream_gene_variant,,ENST00000552693,;ZDHHC17,upstream_gene_variant,,ENST00000550244,;							MODERATE	1318/1899	S440G	ZDH17_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000403397		CCDS44946.1			1	
NFIX	0	LGGM	GRCh37	19	13135824	13135824	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	9	6	.	.	ENST00000397661.2:c.28-11G>T		*10*	ENST00000397661	NM_002501.2			0	1		UPI000012FFCC	0		ENST00000592199		ENSG00000008441	7788	0.0752	15			HGNC	p.C5F	rs748315181	NFIX	0.00364	SNV			1	0.0466			ENST00000358552	protein_coding							T		-/1509	0.0183			K7ESG9_HUMAN,K7EN08_HUMAN,K7EKH0_HUMAN				NFIX,missense_variant,p.Cys5Phe,ENST00000358552,;NFIX,missense_variant,p.Cys5Phe,ENST00000587260,;NFIX,intron_variant,,ENST00000360105,;NFIX,intron_variant,,ENST00000397661,NM_002501.2;NFIX,intron_variant,,ENST00000588228,NM_001271043.1;NFIX,intron_variant,,ENST00000592199,;NFIX,intron_variant,,ENST00000587760,NM_001271044.1;NFIX,intron_variant,,ENST00000585575,;NFIX,intron_variant,,ENST00000586873,;NFIX,intron_variant,,ENST00000591028,;NFIX,intron_variant,,ENST00000590027,;NFIX,intron_variant,,ENST00000586797,;NFIX,intron_variant,,ENST00000585382,;	0.0378						MODIFIER	-/1509		NFIX_HUMAN	0.147		Transcript			common_variant	ENSP00000467512	0.00739		0.0254		1	
PDLIM4	0	LGGM	GRCh37	5	131598377	131598377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	8	7	.	.	ENST00000253754.3:c.169A>T	p.Thr57Ser	p.T57S	ENST00000253754	NM_003687.3	57	Aca/Tca	0	1	1	UPI00001338F6	0	getma.org/pdb.php?prot=PDLI4_HUMAN&from=4&to=81&var=T57S	ENST00000253754		ENSG00000131435	16501		15	2.705		HGNC	p.T57S		PDLIM4		SNV							ENST00000379018	protein_coding	getma.org/?cm=var&var=hg19,5,131598377,A,T&fts=all		Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF00595,Gene3D:2.30.42.10,hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF6,PROSITE_profiles:PS50106		T/S		T	medium	233/2282		getma.org/?cm=msa&ty=f&p=PDLI4_HUMAN&rb=4&re=81&var=T57S	deleterious(0)	C9J542_HUMAN			YES	PDLIM4,missense_variant,p.Thr57Ser,ENST00000253754,NM_003687.3,NM_001131027.1;PDLIM4,missense_variant,p.Thr57Ser,ENST00000379018,;PDLIM4,5_prime_UTR_variant,,ENST00000418373,;P4HA2,intron_variant,,ENST00000439698,;P4HA2,intron_variant,,ENST00000431054,;P4HA2,intron_variant,,ENST00000416053,;P4HA2,intron_variant,,ENST00000471826,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000463615,;PDLIM4,intron_variant,,ENST00000474421,;							MODERATE	169/993	T57S	PDLI4_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000253754		CCDS4152.1			1	
KIAA2022	0	LGGM	GRCh37	X	73960612	73960612	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	29	7	.	.	ENST00000055682.6:c.3780A>T	p.Glu1260Asp	p.E1260D	ENST00000055682	NM_001008537.2	1260	gaA/gaT	0	1	1	UPI00001C207B	0	NA	ENST00000055682		ENSG00000050030	29433		36	0.895		HGNC	p.E1260D		KIAA2022		SNV			1				ENST00000055682	protein_coding	getma.org/?cm=var&var=hg19,X,73960612,T,A&fts=all		hmmpanther:PTHR10322,hmmpanther:PTHR10322:SF2		E/D		A	low	4392/11719		getma.org/?cm=msa&ty=f&p=K2022_HUMAN&rb=1051&re=1515&var=E1260D	tolerated_low_confidence(0.1)				YES	KIAA2022,missense_variant,p.Glu1260Asp,ENST00000055682,NM_001008537.2;KIAA2022,upstream_gene_variant,,ENST00000424929,;							MODERATE	3780/4551	E1260D	K2022_HUMAN			Transcript		benign(0.021)	.	ENSP00000055682		CCDS35337.1			1	
ASTN1	0	LGGM	GRCh37	1	177001910	177001910	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	27	7	.	.	ENST00000361833.2:c.547C>T	p.Arg183Cys	p.R183C	ENST00000361833		183	Cgc/Tgc	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		34	1.355		HGNC	p.R183C	rs760958680	ASTN1		SNV				9.94E-05			ENST00000424564	protein_coding	getma.org/?cm=var&var=hg19,1,177001910,G,A&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8		R/C		A	low	561/7116	1.53E-05	getma.org/?cm=msa&ty=f&p=ASTN1_HUMAN&rb=1&re=200&var=R183C	deleterious_low_confidence(0)	Q96BL7_HUMAN			YES	ASTN1,missense_variant,p.Arg183Cys,ENST00000367654,NM_004319.1;ASTN1,missense_variant,p.Arg183Cys,ENST00000361833,;ASTN1,missense_variant,p.Arg183Cys,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Arg183Cys,ENST00000424564,NM_207108.1;MIR488,upstream_gene_variant,,ENST00000365739,;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;ASTN1,upstream_gene_variant,,ENST00000473640,;							MODERATE	547/3885	R183C	ASTN1_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000354536	1.65E-05	CCDS1319.1			1	
IGSF3	0	LGGM	GRCh37	1	117146607	117146607	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	13	7	.	.	ENST00000369483.1:c.1323C>T	p.Val441=	p.V441=	ENST00000369483	NM_001542.3	441	gtC/gtT	0	1		UPI00003FEC88	0		ENST00000369486		ENSG00000143061	5950		20			HGNC	p.V441V		IGSF3		SNV			1				ENST00000369483	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,SMART_domains:SM00409,Superfamily_domains:SSF48726		V		A		2029/7254								IGSF3,synonymous_variant,p.=,ENST00000369486,NM_001007237.2;IGSF3,synonymous_variant,p.=,ENST00000369483,NM_001542.3;IGSF3,synonymous_variant,p.=,ENST00000318837,;							LOW	1263/3585		IGSF3_HUMAN			Transcript			.	ENSP00000358498		CCDS30813.1			1	
PTGER3	0	LGGM	GRCh37	1	71512676	71512676	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	26	7	.	.	ENST00000356595.4:c.585C>T	p.Gly195=	p.G195=	ENST00000356595	NM_198718.1	195	ggC/ggT	0	1		UPI0000131534	0		ENST00000306666		ENSG00000050628	9595		33			HGNC	p.G195G	COSM2241083,COSM2241085,COSM2241084,COSM2241086,COSM2241087	PTGER3		SNV						1,1,1,1,1	ENST00000414819	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11866:SF10,hmmpanther:PTHR11866,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01788		G		A		796/2333				Q9UBW3_HUMAN,B2KKV4_HUMAN				PTGER3,synonymous_variant,p.=,ENST00000370924,NM_198715.2;PTGER3,synonymous_variant,p.=,ENST00000306666,NM_198719.1;PTGER3,synonymous_variant,p.=,ENST00000414819,NM_001126044.1;PTGER3,synonymous_variant,p.=,ENST00000351052,;PTGER3,synonymous_variant,p.=,ENST00000356595,NM_198718.1;PTGER3,synonymous_variant,p.=,ENST00000370931,NM_198714.1;PTGER3,synonymous_variant,p.=,ENST00000370932,NM_198717.1;PTGER3,synonymous_variant,p.=,ENST00000354608,;PTGER3,synonymous_variant,p.=,ENST00000460330,NM_198716.1;ZRANB2-AS1,upstream_gene_variant,,ENST00000450461,;PTGER3,synonymous_variant,p.=,ENST00000497146,;PTGER3,synonymous_variant,p.=,ENST00000361210,;PTGER3,synonymous_variant,p.=,ENST00000479353,;					1,1,1,1,1		LOW	585/1173		PE2R3_HUMAN			Transcript			.	ENSP00000302313		CCDS657.1			1	
JTB	0	LGGM	GRCh37	1	153947282	153947282	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	61	8	.	.	ENST00000271843.4:c.314T>G	p.Leu105Ter	p.L105*	ENST00000271843	NM_006694.3	105	tTa/tGa	0	1	1	UPI000012DACC	0	NA	ENST00000271843		ENSG00000143543	6201		69	0		HGNC	p.L105X		JTB		SNV							ENST00000271843	protein_coding	getma.org/?cm=var&var=hg19,1,153947282,A,C&fts=all		hmmpanther:PTHR13041:SF2,hmmpanther:PTHR13041,Pfam_domain:PF05439		L/*		C	NA	750/1287		NA					YES	JTB,stop_gained,p.Leu105Ter,ENST00000271843,NM_006694.3;JTB,stop_gained,p.Leu76Ter,ENST00000368589,;JTB,stop_gained,p.Leu76Ter,ENST00000356648,;JTB,stop_gained,p.Leu76Ter,ENST00000428469,;CREB3L4,downstream_gene_variant,,ENST00000368607,NM_001255980.1,NM_130898.3,NM_001255978.1;CREB3L4,downstream_gene_variant,,ENST00000271889,;CREB3L4,downstream_gene_variant,,ENST00000368603,NM_001255979.1;CREB3L4,downstream_gene_variant,,ENST00000405694,;CREB3L4,downstream_gene_variant,,ENST00000368600,NM_001255981.1;CREB3L4,downstream_gene_variant,,ENST00000449724,;CREB3L4,downstream_gene_variant,,ENST00000368601,;RP11-422P24.11,upstream_gene_variant,,ENST00000608236,;CREB3L4,downstream_gene_variant,,ENST00000468845,;CREB3L4,downstream_gene_variant,,ENST00000461688,;CREB3L4,downstream_gene_variant,,ENST00000492729,;JTB,downstream_gene_variant,,ENST00000471173,;JTB,downstream_gene_variant,,ENST00000461365,;							HIGH	314/441	L105*	JTB_HUMAN			Transcript			.	ENSP00000271843		CCDS1057.1			1	
EZH1	0	LGGM	GRCh37	17	40856673	40856673	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	12	8	.	.	ENST00000428826.2:c.1964G>A	p.Arg655His	p.R655H	ENST00000428826		655	cGc/cAc	0	1	1	UPI000012A3BA	0	getma.org/pdb.php?prot=EZH1_HUMAN&from=624&to=728&var=R655H	ENST00000428826		ENSG00000108799	3526		20	4.39		HGNC	p.R615H	COSM979598	EZH1		SNV						1	ENST00000585893	protein_coding	getma.org/?cm=var&var=hg19,17,40856673,C,T&fts=all		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF314,SMART_domains:SM00317,Superfamily_domains:SSF82199		R/H		T	high	2086/4623		getma.org/?cm=msa&ty=f&p=EZH1_HUMAN&rb=624&re=728&var=R655H	deleterious(0)	K7EPC0_HUMAN,K7EK66_HUMAN			YES	EZH1,missense_variant,p.Arg655His,ENST00000428826,;EZH1,missense_variant,p.Arg646His,ENST00000415827,NM_001991.3;EZH1,missense_variant,p.Arg516His,ENST00000435174,;EZH1,missense_variant,p.Arg655His,ENST00000592743,;EZH1,missense_variant,p.Arg615His,ENST00000585893,;EZH1,missense_variant,p.Arg585His,ENST00000590078,;CNTNAP1,downstream_gene_variant,,ENST00000264638,NM_003632.2;EZH1,non_coding_transcript_exon_variant,,ENST00000590783,;EZH1,3_prime_UTR_variant,,ENST00000588897,;EZH1,non_coding_transcript_exon_variant,,ENST00000586103,;EZH1,non_coding_transcript_exon_variant,,ENST00000591330,;EZH1,non_coding_transcript_exon_variant,,ENST00000585912,;EZH1,non_coding_transcript_exon_variant,,ENST00000585550,;EZH1,downstream_gene_variant,,ENST00000588239,;EZH1,downstream_gene_variant,,ENST00000589846,;EZH1,upstream_gene_variant,,ENST00000586714,;EZH1,downstream_gene_variant,,ENST00000585455,;					1		MODERATE	1964/2244	R655H	EZH1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000404658		CCDS32659.1			1	
CHUK	0	LGGM	GRCh37	10	101978888	101978888	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	82	8	.	.	ENST00000370397.7:c.566C>T	p.Ala189Val	p.A189V	ENST00000370397	NM_001278.3	189	gCc/gTc	0	1	1	UPI000013D6C7	0	getma.org/pdb.php?prot=IKKA_HUMAN&from=15&to=297&var=A189V	ENST00000370397		ENSG00000213341	1974		90	4.405		HGNC	p.A189V		CHUK		SNV			1				ENST00000370397	protein_coding	getma.org/?cm=var&var=hg19,10,101978888,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22969,hmmpanther:PTHR22969:SF13,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/V		A	high	653/3625		getma.org/?cm=msa&ty=f&p=IKKA_HUMAN&rb=15&re=297&var=A189V	deleterious(0.02)				YES	CHUK,missense_variant,p.Ala189Val,ENST00000370397,NM_001278.3;							MODERATE	566/2238	A189V	IKKA_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000359424		CCDS7488.1			1	
KIAA1524	0	LGGM	GRCh37	3	108276261	108276261	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	19	8	.	.	ENST00000295746.8:c.2014G>T	p.Ala672Ser	p.A672S	ENST00000295746	NM_020890.2	672	Gca/Tca	0	1	1	UPI0000209EFF	0	NA	ENST00000295746		ENSG00000163507	29302		27	0.805		HGNC	p.A672S		KIAA1524		SNV							ENST00000295746	protein_coding	getma.org/?cm=var&var=hg19,3,108276261,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23161,hmmpanther:PTHR23161:SF2		A/S		A	low	2091/4075		getma.org/?cm=msa&ty=f&p=CIP2A_HUMAN&rb=657&re=687&var=A672S	tolerated(0.1)				YES	KIAA1524,missense_variant,p.Ala672Ser,ENST00000295746,NM_020890.2;KIAA1524,missense_variant,p.Ala513Ser,ENST00000491772,;KIAA1524,downstream_gene_variant,,ENST00000487834,;KIAA1524,splice_region_variant,,ENST00000481530,;							MODERATE	2014/2718	A672S	CIP2A_HUMAN			Transcript		benign(0.073)	.	ENSP00000295746		CCDS33812.1			1	
FOXRED1	0	LGGM	GRCh37	11	126147432	126147432	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	24	9	.	.	ENST00000263578.5:c.1309T>A	p.Phe437Ile	p.F437I	ENST00000263578	NM_017547.3	437	Ttc/Atc	0	1	1	UPI0000037C04	0	getma.org/pdb.php?prot=FXRD1_HUMAN&from=65&to=455&var=F437I	ENST00000263578		ENSG00000110074	26927		33	3.645		HGNC	p.F267I		FOXRED1		SNV			1				ENST00000442061	protein_coding	getma.org/?cm=var&var=hg19,11,126147432,T,A&fts=all		Superfamily_domains:SSF51905,Pfam_domain:PF01266,Gene3D:3.50.50.60,hmmpanther:PTHR13847:SF161,hmmpanther:PTHR13847		F/I		A	high	1383/1970		getma.org/?cm=msa&ty=f&p=FXRD1_HUMAN&rb=65&re=455&var=F437I	deleterious(0)	B4DXM1_HUMAN,B4DQI0_HUMAN			YES	FOXRED1,missense_variant,p.Phe437Ile,ENST00000263578,NM_017547.3;FOXRED1,missense_variant,p.Phe423Ile,ENST00000532125,;FOXRED1,missense_variant,p.Phe267Ile,ENST00000442061,;snoU13,upstream_gene_variant,,ENST00000459062,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534011,;FOXRED1,downstream_gene_variant,,ENST00000533839,;FOXRED1,downstream_gene_variant,,ENST00000526366,;FOXRED1,3_prime_UTR_variant,,ENST00000527004,;FOXRED1,3_prime_UTR_variant,,ENST00000525770,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000530642,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000534315,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000525083,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000532590,;FOXRED1,downstream_gene_variant,,ENST00000532101,;FOXRED1,downstream_gene_variant,,ENST00000524751,;FOXRED1,downstream_gene_variant,,ENST00000531257,;FOXRED1,downstream_gene_variant,,ENST00000533395,;FOXRED1,downstream_gene_variant,,ENST00000526525,;FOXRED1,downstream_gene_variant,,ENST00000527875,;RPL35AP26,downstream_gene_variant,,ENST00000476981,;							MODERATE	1309/1461	F437I	FXRD1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000263578		CCDS8471.1			1	
ALAD	0	LGGM	GRCh37	9	116152906	116152906	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	6	9	.	.	ENST00000409155.3:c.448C>T	p.Leu150=	p.L150=	ENST00000409155	NM_000031.5	150	Ctg/Ttg	0	1	1	UPI0000037431	0		ENST00000409155		ENSG00000148218	395		15			HGNC	p.L150L	rs559825367	ALAD	6.11E-05	SNV			1				ENST00000409155	protein_coding		A:0	hmmpanther:PTHR11458,hmmpanther:PTHR11458:SF0,Gene3D:3.20.20.70,Pfam_domain:PF00490,SMART_domains:SM01004,PIRSF_domain:PIRSF001415,Superfamily_domains:SSF51569		L		A		645/3173					A:0	A:0	YES	ALAD,synonymous_variant,p.=,ENST00000409155,NM_000031.5;ALAD,synonymous_variant,p.=,ENST00000277315,;ALAD,downstream_gene_variant,,ENST00000445750,;ALAD,downstream_gene_variant,,ENST00000452726,;ALAD,downstream_gene_variant,,ENST00000448137,;ALAD,downstream_gene_variant,,ENST00000482001,;ALAD,non_coding_transcript_exon_variant,,ENST00000482847,;ALAD,non_coding_transcript_exon_variant,,ENST00000468504,;ALAD,downstream_gene_variant,,ENST00000464749,;ALAD,downstream_gene_variant,,ENST00000494848,;		A:0.0002					LOW	448/993		HEM2_HUMAN		A:0	Transcript			.	ENSP00000386284	8.24E-06	CCDS6794.2		A:0.001	1	
CNGA4	0	LGGM	GRCh37	11	6261929	6261929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	28	9	.	.	ENST00000379936.2:c.905G>T	p.Arg302Leu	p.R302L	ENST00000379936	NM_001037329.3	302	cGa/cTa	0	1	1	UPI000004C7EC	0	getma.org/pdb.php?prot=CNGA4_HUMAN&from=266&to=365&var=R302L	ENST00000379936		ENSG00000132259	2152		37	2.78		HGNC	p.R71L		CNGA4		SNV							ENST00000533426	protein_coding	getma.org/?cm=var&var=hg19,11,6261929,G,T&fts=all		Gene3D:3bpzA01,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF51206		R/L		T	medium	1020/1863		getma.org/?cm=msa&ty=f&p=CNGA4_HUMAN&rb=266&re=365&var=R302L	deleterious(0)				YES	CNGA4,missense_variant,p.Arg302Leu,ENST00000379936,NM_001037329.3;CNGA4,missense_variant,p.Arg71Leu,ENST00000533426,;							MODERATE	905/1728	R302L	CNGA4_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000369268		CCDS31408.1			1	
HIST1H4C	0	LGGM	GRCh37	6	26104321	26104321	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	35	9	.	.	ENST00000377803.2:c.146G>C	p.Gly49Ala	p.G49A	ENST00000377803	NM_003542.3	49	gGt/gCt	0	1	1	UPI000000003C	0		ENST00000377803		ENSG00000197061	4787		44			HGNC	p.G49A		HIST1H4C		SNV							ENST00000377803	protein_coding			Gene3D:1.10.20.10,Pfam_domain:PF00125,Prints_domain:PR00623,hmmpanther:PTHR10484,SMART_domains:SM00417,SMART_domains:SM00803,Superfamily_domains:SSF47113		G/A		C		218/415			tolerated(0.1)	Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4C,missense_variant,p.Gly49Ala,ENST00000377803,NM_003542.3;HIST1H1T,downstream_gene_variant,,ENST00000338379,NM_005323.3;							MODERATE	146/312		H4_HUMAN			Transcript		benign(0.05)	.	ENSP00000367034		CCDS4583.1			1	
HECW1	0	LGGM	GRCh37	7	43485003	43485003	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	30	10	.	.	ENST00000395891.2:c.2232C>T	p.Ser744=	p.S744=	ENST00000395891	NM_015052.3	744	agC/agT	0	1	1	UPI0000D74C41	0		ENST00000395891		ENSG00000002746	22195		40			HGNC	p.S744S		HECW1		SNV							ENST00000453890	protein_coding			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254		S		T		2837/9501				A4D1V5_HUMAN			YES	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.3;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;							LOW	2232/4821		HECW1_HUMAN			Transcript			.	ENSP00000379228		CCDS5469.2			1	
PDE3A	0	LGGM	GRCh37	12	20799431	20799431	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	30	10	.	.	ENST00000359062.3:c.2259C>G	p.Asn753Lys	p.N753K	ENST00000359062	NM_001244683.1	753	aaC/aaG	0	1	1	UPI000014175F	0	getma.org/pdb.php?prot=PDE3A_HUMAN&from=661&to=800&var=N753K	ENST00000359062		ENSG00000172572	8778		40	3.33		HGNC	p.N753K		PDE3A		SNV			1				ENST00000359062	protein_coding	getma.org/?cm=var&var=hg19,12,20799431,C,G&fts=all		hmmpanther:PTHR11347:SF104,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,SMART_domains:SM00471,Superfamily_domains:SSF109604		N/K		G	medium	2299/7576		getma.org/?cm=msa&ty=f&p=PDE3A_HUMAN&rb=661&re=800&var=N753K	deleterious(0)				YES	PDE3A,missense_variant,p.Asn753Lys,ENST00000359062,NM_001244683.1,NM_000921.4;PDE3A,non_coding_transcript_exon_variant,,ENST00000544307,;							MODERATE	2259/3426	N753K	PDE3A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000351957		CCDS31754.1			1	
SGIP1	0	LGGM	GRCh37	1	67109316	67109316	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	91	10	.	.	ENST00000371037.4:c.373C>A	p.Gln125Lys	p.Q125K	ENST00000371037	NM_032291.2	125	Caa/Aaa	0	1	1	UPI000045891B	0	NA	ENST00000371037		ENSG00000118473	25412		101	1.895		HGNC	p.Q101K		SGIP1		SNV							ENST00000371039	protein_coding	getma.org/?cm=var&var=hg19,1,67109316,C,A&fts=all		hmmpanther:PTHR23065:SF5,hmmpanther:PTHR23065		Q/K		A	low	450/7768		getma.org/?cm=msa&ty=f&p=SGIP1_HUMAN&rb=1&re=424&var=Q125K	tolerated(0.13)				YES	SGIP1,missense_variant,p.Gln125Lys,ENST00000371037,NM_032291.2;SGIP1,missense_variant,p.Gln100Lys,ENST00000371036,;SGIP1,missense_variant,p.Gln101Lys,ENST00000371039,;SGIP1,missense_variant,p.Gln129Lys,ENST00000237247,;SGIP1,missense_variant,p.Gln82Lys,ENST00000371035,;SGIP1,missense_variant,p.Gln125Lys,ENST00000424320,;SGIP1,non_coding_transcript_exon_variant,,ENST00000468286,;SGIP1,non_coding_transcript_exon_variant,,ENST00000483060,;							MODERATE	373/2487	Q125K	SGIP1_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000360076		CCDS30744.1			1	
DIS3	0	LGGM	GRCh37	13	73335912	73335912	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	88	10	.	.	ENST00000377767.4:c.2383A>T	p.Ile795Phe	p.I795F	ENST00000377767	NM_014953.3	795	Att/Ttt	0	1	1	UPI0000141B79	0	getma.org/pdb.php?prot=RRP44_HUMAN&from=467&to=796&var=I795F	ENST00000377767		ENSG00000083520	20604		98	2.69		HGNC	p.I795F		DIS3		SNV							ENST00000377767	protein_coding	getma.org/?cm=var&var=hg19,13,73335912,T,A&fts=all		Superfamily_domains:SSF50249,SMART_domains:SM00955,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35		I/F		A	medium	2484/7371		getma.org/?cm=msa&ty=f&p=RRP44_HUMAN&rb=467&re=796&var=I795F	deleterious(0)	G3V1J5_HUMAN,B3KM83_HUMAN			YES	DIS3,missense_variant,p.Ile795Phe,ENST00000377767,NM_014953.3;DIS3,missense_variant,p.Ile765Phe,ENST00000377780,NM_001128226.1;DIS3,missense_variant,p.Ile633Phe,ENST00000545453,;DIS3,intron_variant,,ENST00000469339,;DIS3,3_prime_UTR_variant,,ENST00000490646,;							MODERATE	2383/2877	I795F	RRP44_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000366997		CCDS9447.1			1	
EPX	0	LGGM	GRCh37	17	56272426	56272426	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	24	11	.	.	ENST00000225371.5:c.696C>G	p.Asp232Glu	p.D232E	ENST00000225371	NM_000502.4	232	gaC/gaG	0	1	1	UPI0000131629	0	getma.org/pdb.php?prot=PERE_HUMAN&from=145&to=689&var=D232E	ENST00000225371		ENSG00000121053	3423		35	3.195		HGNC	p.D232E		EPX		SNV			1				ENST00000225371	protein_coding	getma.org/?cm=var&var=hg19,17,56272426,C,G&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF49,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457		D/E		G	medium	806/2708		getma.org/?cm=msa&ty=f&p=PERE_HUMAN&rb=145&re=689&var=D232E	deleterious(0)				YES	EPX,missense_variant,p.Asp232Glu,ENST00000225371,NM_000502.4;							MODERATE	696/2148	D232E	PERE_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000225371		CCDS11602.1			1	
DNAH5	0	LGGM	GRCh37	5	13716726	13716726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	20	11	.	.	ENST00000265104.4:c.12779A>G	p.Asp4260Gly	p.D4260G	ENST00000265104	NM_001369.2	4260	gAt/gGt	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=3927&to=4622&var=D4260G	ENST00000265104		ENSG00000039139	2950		31	4.635		HGNC	p.D4260G		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13716726,T,C&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		D/G		C	high	12884/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3927&re=4622&var=D4260G		O95496_HUMAN			YES	DNAH5,missense_variant,p.Asp4260Gly,ENST00000265104,NM_001369.2;							MODERATE	12779/13875	D4260G	DYH5_HUMAN			Transcript		possibly_damaging(0.822)	.	ENSP00000265104		CCDS3882.1			1	
HEATR4	0	LGGM	GRCh37	14	73964885	73964885	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	20	11	.	.	ENST00000553558.1:c.2520C>A	p.Leu840=	p.L840=	ENST00000553558	NM_001220484.1	840	ctC/ctA	0	1		UPI00001FD7FD	0		ENST00000334988		ENSG00000187105	16761		31			HGNC	p.L840L		HEATR4		SNV							ENST00000553558	protein_coding			hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		L		T		2789/3469				H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN				HEATR4,synonymous_variant,p.=,ENST00000553558,NM_001220484.1;HEATR4,synonymous_variant,p.=,ENST00000334988,NM_203309.2;HEATR4,synonymous_variant,p.=,ENST00000560393,;C14orf169,downstream_gene_variant,,ENST00000531973,;AC005280.1,downstream_gene_variant,,ENST00000304061,;							LOW	2520/3081		HEAT4_HUMAN			Transcript			.	ENSP00000335447		CCDS9815.2			1	
ETNPPL	0	LGGM	GRCh37	4	109677627	109677627	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	18	11	.	.	ENST00000296486.3:c.357C>G	p.Ala119=	p.A119=	ENST00000296486	NM_031279.3	119	gcC/gcG	0	1	1	UPI000004B638	0		ENST00000296486		ENSG00000164089	14404		29			HGNC	p.A61A		ETNPPL		SNV							ENST00000512646	protein_coding			Gene3D:3.40.640.10,Pfam_domain:PF00202,PIRSF_domain:PIRSF000521,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF63,Superfamily_domains:SSF53383		A		C		512/2099				E7ENR6_HUMAN,D6RGG2_HUMAN			YES	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,synonymous_variant,p.=,ENST00000512320,;ETNPPL,synonymous_variant,p.=,ENST00000510723,;ETNPPL,3_prime_UTR_variant,,ENST00000505233,;ETNPPL,3_prime_UTR_variant,,ENST00000509402,;ETNPPL,upstream_gene_variant,,ENST00000511923,;							LOW	357/1500		AT2L1_HUMAN			Transcript			.	ENSP00000296486		CCDS3682.1			1	
TMPRSS11B	0	LGGM	GRCh37	4	69100292	69100292	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	50	12	.	.	ENST00000332644.5:c.358C>T	p.Pro120Ser	p.P120S	ENST00000332644	NM_182502.3	120	Cct/Tct	0	1	1	UPI000013E249	0	getma.org/pdb.php?prot=TM11B_HUMAN&from=42&to=146&var=P120S	ENST00000332644		ENSG00000185873	25398	8.69E-05	62	1.845		HGNC	p.P120S	rs376832399,COSM1694445	TMPRSS11B		SNV	A:0.0002			9.61E-05		0,1	ENST00000332644	protein_coding	getma.org/?cm=var&var=hg19,4,69100292,G,A&fts=all		PROSITE_profiles:PS50024,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Gene3D:1ivzA00,Pfam_domain:PF01390,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452		P/S	A:0	A	low	520/2671	9.00E-05	getma.org/?cm=msa&ty=f&p=TM11B_HUMAN&rb=42&re=146&var=P120S	tolerated(0.44)				YES	TMPRSS11B,missense_variant,p.Pro120Ser,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;					0,1		MODERATE	358/1251	P120S	TM11B_HUMAN			Transcript		benign(0.017)	.	ENSP00000330475	7.41E-05	CCDS3521.1	0.0011		1	
SIGLEC9	0	LGGM	GRCh37	19	51628882	51628882	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	104	13	.	.	ENST00000440804.3:c.450C>T	p.Ile150=	p.I150=	ENST00000440804	NM_001198558.1	150	atC/atT	0	1		UPI00000389EE	0		ENST00000250360		ENSG00000129450	10878		117			HGNC	p.I150I		SIGLEC9		SNV							ENST00000440804	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,SMART_domains:SM00409,Superfamily_domains:SSF48726		I		T		517/1690								SIGLEC9,synonymous_variant,p.=,ENST00000440804,NM_001198558.1;SIGLEC9,synonymous_variant,p.=,ENST00000250360,NM_014441.2;SIGLEC9,upstream_gene_variant,,ENST00000599948,;SIGLEC18P,downstream_gene_variant,,ENST00000602271,;							LOW	450/1392		SIGL9_HUMAN			Transcript			.	ENSP00000250360		CCDS12825.1			1	
SNX18	0	LGGM	GRCh37	5	53815151	53815151	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	26	13	.	.	ENST00000326277.3:c.1369G>T	p.Val457Leu	p.V457L	ENST00000326277	NM_052870.2	457	Gtg/Ttg	0	1	1	UPI00001418B0	0	getma.org/pdb.php?prot=SNX18_HUMAN&from=386&to=548&var=V457L	ENST00000326277		ENSG00000178996	19245		39	-0.11		HGNC	p.V457L		SNX18		SNV							ENST00000343017	protein_coding	getma.org/?cm=var&var=hg19,5,53815151,G,T&fts=all		Pfam_domain:PF10456,PIRSF_domain:PIRSF027744,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF13		V/L		T	neutral	1559/3241		getma.org/?cm=msa&ty=f&p=SNX18_HUMAN&rb=386&re=548&var=V457L	tolerated(0.22)				YES	SNX18,missense_variant,p.Val457Leu,ENST00000343017,NM_001145427.1;SNX18,missense_variant,p.Val457Leu,ENST00000381410,NM_001102575.1;SNX18,missense_variant,p.Val457Leu,ENST00000326277,NM_052870.2;							MODERATE	1369/1887	V457L	SNX18_HUMAN			Transcript		benign(0.092)	.	ENSP00000317332		CCDS3962.1			1	
MGA	0	LGGM	GRCh37	15	42041824	42041824	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	177	13	.	.	ENST00000219905.7:c.6019G>T	p.Val2007Leu	p.V2007L	ENST00000219905	NM_001164273.1	2007	Gta/Tta	0	1	1	UPI0001B2337E	0	NA	ENST00000219905		ENSG00000174197	14010		190	0.345		HGNC	p.V2007L		MGA	6.07E-05	SNV							ENST00000570161	protein_coding	getma.org/?cm=var&var=hg19,15,42041824,G,T&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF32		V/L		T	neutral	6200/12042		getma.org/?cm=msa&ty=f&p=MGAP_HUMAN&rb=1940&re=2331&var=V1968L	tolerated_low_confidence(0.1)	H3BTF4_HUMAN,H3BP52_HUMAN			YES	MGA,missense_variant,p.Val2007Leu,ENST00000219905,NM_001164273.1;MGA,missense_variant,p.Val1968Leu,ENST00000389936,;MGA,missense_variant,p.Val2007Leu,ENST00000570161,;MGA,missense_variant,p.Val1798Leu,ENST00000545763,NM_001080541.2;MGA,missense_variant,p.Val1798Leu,ENST00000566586,;MGA,missense_variant,p.Val655Leu,ENST00000564190,;MGA,non_coding_transcript_exon_variant,,ENST00000566288,;							MODERATE	6019/9198	V1968L	MGAP_HUMAN			Transcript		benign(0.002)	.	ENSP00000219905	8.28E-06	CCDS55959.1			1	
NR0B2	0	LGGM	GRCh37	1	27238438	27238438	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	11	14	.	.	ENST00000254227.3:c.672C>G	p.Leu224=	p.L224=	ENST00000254227	NM_021969.2	224	ctC/ctG	0	1	1	UPI0000135956	0		ENST00000254227		ENSG00000131910	7961		25			HGNC	p.L224L		NR0B2		SNV			1				ENST00000254227	protein_coding			hmmpanther:PTHR24081,hmmpanther:PTHR24081:SF0,Pfam_domain:PF00104,Gene3D:1.10.565.10,SMART_domains:SM00430,Superfamily_domains:SSF48508,Prints_domain:PR00398		L		C		698/1156							YES	NR0B2,synonymous_variant,p.=,ENST00000254227,NM_021969.2;NUDC,intron_variant,,ENST00000435827,;							LOW	672/774		NR0B2_HUMAN			Transcript			.	ENSP00000254227		CCDS291.1			1	
SND1	0	LGGM	GRCh37	7	127342512	127342512	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	25	14	.	.	ENST00000354725.3:c.613G>T	p.Gly205Cys	p.G205C	ENST00000354725	NM_014390.2	205	Ggc/Tgc	0	1	1	UPI00000727E5	0	getma.org/pdb.php?prot=SND1_HUMAN&from=193&to=328&var=G205C	ENST00000354725		ENSG00000197157	30646		39	3.83		HGNC	p.G205C		SND1		SNV							ENST00000354725	protein_coding	getma.org/?cm=var&var=hg19,7,127342512,G,T&fts=all		PROSITE_profiles:PS50830,hmmpanther:PTHR12302:SF2,hmmpanther:PTHR12302,Gene3D:2.40.50.90,PIRSF_domain:PIRSF017179,SMART_domains:SM00318,Superfamily_domains:0047647		G/C		T	high	807/3476		getma.org/?cm=msa&ty=f&p=SND1_HUMAN&rb=193&re=328&var=G205C	deleterious(0)	B2R5U1_HUMAN			YES	SND1,missense_variant,p.Gly205Cys,ENST00000354725,NM_014390.2;SND1,non_coding_transcript_exon_variant,,ENST00000483503,;SND1,non_coding_transcript_exon_variant,,ENST00000492772,;SND1,downstream_gene_variant,,ENST00000461056,;SND1,downstream_gene_variant,,ENST00000468621,;							MODERATE	613/2733	G205C	SND1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346762		CCDS34747.1			1	
DNAH5	0	LGGM	GRCh37	5	13923545	13923545	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	32	14	.	.	ENST00000265104.4:c.282A>G	p.Gln94=	p.Q94=	ENST00000265104	NM_001369.2	94	caA/caG	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		46			HGNC	p.Q94Q	rs778984269	DNAH5		SNV			1				ENST00000265104	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		Q		C		387/15633	3.01E-05			O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000508040,;							LOW	282/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104	1.65E-05	CCDS3882.1			1	
GFRA1	0	LGGM	GRCh37	10	117884843	117884843	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	20	14	.	.	ENST00000355422.6:c.659C>T	p.Ala220Val	p.A220V	ENST00000355422	NM_005264.4	220	gCc/gTc	0	1	1	UPI000012B3A8	0	getma.org/pdb.php?prot=GFRA1_HUMAN&from=154&to=233&var=A220V	ENST00000355422		ENSG00000151892	4243		34	2.44		HGNC	p.A215V		GFRA1		SNV							ENST00000369234	protein_coding	getma.org/?cm=var&var=hg19,10,117884843,G,A&fts=all		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,Pfam_domain:PF02351,SMART_domains:SM00907,PIRSF_domain:PIRSF038071		A/V		A	medium	1210/2583		getma.org/?cm=msa&ty=f&p=GFRA1_HUMAN&rb=154&re=233&var=A220V	deleterious(0.01)				YES	GFRA1,missense_variant,p.Ala215Val,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Ala215Val,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Ala220Val,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Ala220Val,ENST00000369234,;GFRA1,missense_variant,p.Ala99Val,ENST00000544592,;							MODERATE	659/1398	A220V	GFRA1_HUMAN			Transcript		benign(0.42)	.	ENSP00000347591		CCDS44481.1			1	
LTF	0	LGGM	GRCh37	3	46480973	46480973	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	15	15	.	.	ENST00000231751.4:c.1724-2A>G		p.X575_splice	ENST00000231751	NM_002343.3			0	1	1	UPI000016ABE3	0		ENST00000231751		ENSG00000012223	6720		30			HGNC	-		LTF		SNV			1				ENST00000231751	protein_coding							C		-/2979				C9J0S5_HUMAN,A8K9U8_HUMAN			YES	LTF,splice_acceptor_variant,,ENST00000231751,NM_002343.3;LTF,splice_acceptor_variant,,ENST00000443496,;LTF,splice_acceptor_variant,,ENST00000426532,NM_001199149.1;LTF,splice_acceptor_variant,,ENST00000417439,;LTF,splice_acceptor_variant,,ENST00000493056,;LTF,splice_acceptor_variant,,ENST00000478874,;							HIGH	1724/2133		TRFL_HUMAN			Transcript			.	ENSP00000231751		CCDS33747.1			1	
SPTLC2	0	LGGM	GRCh37	14	78063599	78063599	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	30	15	.	.	ENST00000216484.2:c.257A>G	p.Tyr86Cys	p.Y86C	ENST00000216484	NM_004863.3	86	tAt/tGt	0	1	1	UPI0000000C6B	0	NA	ENST00000216484		ENSG00000100596	11278		45	2.485		HGNC	p.Y86C		SPTLC2		SNV			1				ENST00000216484	protein_coding	getma.org/?cm=var&var=hg19,14,78063599,T,C&fts=all		hmmpanther:PTHR13693:SF52,hmmpanther:PTHR13693		Y/C		C	medium	451/8170		getma.org/?cm=msa&ty=f&p=SPTC2_HUMAN&rb=1&re=167&var=Y86C	deleterious(0)				YES	SPTLC2,missense_variant,p.Tyr86Cys,ENST00000216484,NM_004863.3;SPTLC2,missense_variant,p.Tyr23Cys,ENST00000554901,;SPTLC2,non_coding_transcript_exon_variant,,ENST00000557566,;							MODERATE	257/1689	Y86C	SPTC2_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000216484		CCDS9865.1			1	
ABCA12	0	LGGM	GRCh37	2	215866421	215866421	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	31	15	.	.	ENST00000272895.7:c.2724C>A	p.Ile908=	p.I908=	ENST00000272895	NM_173076.2	908	atC/atA	0	1	1	UPI000019AB7A	0		ENST00000272895		ENSG00000144452	14637		46			HGNC	p.I908I		ABCA12		SNV			1				ENST00000272895	protein_coding			hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229		I		T		2944/9100				A0SYP7_HUMAN			YES	ABCA12,synonymous_variant,p.=,ENST00000272895,NM_173076.2;ABCA12,synonymous_variant,p.=,ENST00000389661,NM_015657.3;							LOW	2724/7788		ABCAC_HUMAN			Transcript			.	ENSP00000272895		CCDS33372.1			1	
BRINP2	0	LGGM	GRCh37	1	177226474	177226474	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	14	17	.	.	ENST00000361539.4:c.623C>T	p.Thr208Met	p.T208M	ENST00000361539	NM_021165.2	208	aCg/aTg	0	1	1	UPI000006DF55	0	NA	ENST00000361539		ENSG00000198797	13746	8.78E-05	31	2.19		HGNC	p.T208M	rs760695139,COSM1733615	BRINP2		SNV						0,1	ENST00000361539	protein_coding	getma.org/?cm=var&var=hg19,1,177226474,C,T&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5,SMART_domains:SM00457		T/M		T	medium	935/3558	7.66E-05	getma.org/?cm=msa&ty=f&p=FAM5B_HUMAN&rb=194&re=393&var=T208M	deleterious(0)				YES	BRINP2,missense_variant,p.Thr208Met,ENST00000361539,NM_021165.2;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;BRINP2,downstream_gene_variant,,ENST00000460161,;					0,1		MODERATE	623/2352	T208M	BRNP2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000354481	4.94E-05	CCDS1320.1			1	
VPS13B	0	LGGM	GRCh37	8	100205159	100205159	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	32	17	.	.	ENST00000358544.2:c.2389A>T	p.Thr797Ser	p.T797S	ENST00000358544	NM_017890.4	797	Aca/Tca	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		49	0.695		HGNC	p.T797S		VPS13B		SNV			1				ENST00000355155	protein_coding	getma.org/?cm=var&var=hg19,8,100205159,A,T&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		T/S		T	neutral	2500/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=721&re=920&var=T797S	tolerated(0.4)				YES	VPS13B,missense_variant,p.Thr797Ser,ENST00000395996,;VPS13B,missense_variant,p.Thr797Ser,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Thr797Ser,ENST00000357162,NM_152564.4;VPS13B,missense_variant,p.Thr797Ser,ENST00000355155,NM_015243.2;VPS13B,non_coding_transcript_exon_variant,,ENST00000521932,;VPS13B,missense_variant,p.Thr797Ser,ENST00000496144,;							MODERATE	2389/12069	T797S	VP13B_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000351346		CCDS6280.1			1	
DCAF12	0	LGGM	GRCh37	9	34107473	34107473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	25	17	.	.	ENST00000361264.4:c.424G>T	p.Gly142Cys	p.G142C	ENST00000361264	NM_015397.3	142	Ggt/Tgt	0	1	1	UPI00000372E8	0	NA	ENST00000361264		ENSG00000198876	19911		42	2.505		HGNC	p.G121C		DCAF12		SNV							ENST00000450964	protein_coding	getma.org/?cm=var&var=hg19,9,34107473,C,A&fts=all		hmmpanther:PTHR19860:SF10,hmmpanther:PTHR19860,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		G/C		A	medium	766/3667		getma.org/?cm=msa&ty=f&p=DCA12_HUMAN&rb=1&re=175&var=G142C	deleterious(0)				YES	DCAF12,missense_variant,p.Gly142Cys,ENST00000361264,NM_015397.3;DCAF12,missense_variant,p.Gly124Cys,ENST00000396990,;DCAF12,missense_variant,p.Gly121Cys,ENST00000450964,;DCAF12,non_coding_transcript_exon_variant,,ENST00000463286,;TUBB4BP2,downstream_gene_variant,,ENST00000454125,;							MODERATE	424/1362	G142C	DCA12_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355114		CCDS6549.1			1	
NAV3	0	LGGM	GRCh37	12	78392116	78392116	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	27	18	.	.	ENST00000536525.2:c.741-1G>T		p.X247_splice	ENST00000536525	NM_014903.4			0	1		UPI0000E59849	0		ENST00000397909		ENSG00000067798	15998		45			HGNC	-		NAV3		SNV							ENST00000549464	protein_coding							T		-/9821				F8VZV4_HUMAN				NAV3,splice_acceptor_variant,,ENST00000397909,NM_001024383.1;NAV3,splice_acceptor_variant,,ENST00000228327,;NAV3,splice_acceptor_variant,,ENST00000266692,;NAV3,splice_acceptor_variant,,ENST00000536525,NM_014903.4;NAV3,splice_acceptor_variant,,ENST00000549464,;NAV3,splice_acceptor_variant,,ENST00000550503,;NAV3,splice_acceptor_variant,,ENST00000547725,;							HIGH	741/7158		NAV3_HUMAN			Transcript			.	ENSP00000381007		CCDS66432.1			1	
TLR4	0	LGGM	GRCh37	9	120476765	120476765	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	37	18	.	.	ENST00000355622.6:c.2359C>A	p.Arg787Ser	p.R787S	ENST00000355622	NM_138557.2	787	Cgc/Agc	0	1	1	UPI0000137057	0	getma.org/pdb.php?prot=TLR4_HUMAN&from=676&to=814&var=R787S	ENST00000355622		ENSG00000136869	11850		55	0.95		HGNC	p.R787S		TLR4		SNV			1				ENST00000355622	protein_coding	getma.org/?cm=var&var=hg19,9,120476765,C,A&fts=all		Gene3D:3.40.50.10140,Pfam_domain:PF01582,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,SMART_domains:SM00255,Superfamily_domains:SSF52200		R/S		A	low	2460/4844		getma.org/?cm=msa&ty=f&p=TLR4_HUMAN&rb=676&re=814&var=R787S	deleterious(0)	K9MSZ3_HUMAN,D0EWT7_HUMAN			YES	TLR4,missense_variant,p.Arg787Ser,ENST00000355622,NM_138557.2,NM_138554.4;TLR4,missense_variant,p.Arg747Ser,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;							MODERATE	2359/2520	R787S	TLR4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000363089		CCDS6818.1			1	
SLITRK1	0	LGGM	GRCh37	13	84454287	84454287	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	28	18	.	.	ENST00000377084.2:c.1356G>T	p.Leu452=	p.L452=	ENST00000377084	NM_052910.2	452	ctG/ctT	0	1	1	UPI0000035971	0		ENST00000377084		ENSG00000178235	20297		46			HGNC	p.L452L		SLITRK1		SNV			1				ENST00000377084	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		A		2242/5185							YES	SLITRK1,synonymous_variant,p.=,ENST00000377084,NM_052910.2,NM_001281503.1;							LOW	1356/2091		SLIK1_HUMAN			Transcript			.	ENSP00000366288		CCDS9464.1			1	
PKP4	0	LGGM	GRCh37	2	159519887	159519887	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	20	18	.	.	ENST00000389759.3:c.2507A>C	p.Glu836Ala	p.E836A	ENST00000389759	NM_003628.3	836	gAa/gCa	0	1	1	UPI000044D379	0	getma.org/pdb.php?prot=PKP4_HUMAN&from=645&to=844&var=E836A	ENST00000389759		ENSG00000144283	9026		38	2.505		HGNC	p.E836A		PKP4		SNV							ENST00000389759	protein_coding	getma.org/?cm=var&var=hg19,2,159519887,A,C&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		E/A		C	medium	2619/4443		getma.org/?cm=msa&ty=f&p=PKP4_HUMAN&rb=645&re=844&var=E836A	deleterious(0)	Q53TM5_HUMAN			YES	PKP4,missense_variant,p.Glu836Ala,ENST00000389757,NM_001005476.1;PKP4,missense_variant,p.Glu836Ala,ENST00000389759,NM_003628.3;AC005042.4,intron_variant,,ENST00000342892,;PKP4,non_coding_transcript_exon_variant,,ENST00000495123,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,non_coding_transcript_exon_variant,,ENST00000480171,;PKP4,non_coding_transcript_exon_variant,,ENST00000483881,;PKP4,downstream_gene_variant,,ENST00000421462,;PKP4,downstream_gene_variant,,ENST00000452162,;PKP4,downstream_gene_variant,,ENST00000492496,;							MODERATE	2507/3579	E836A	PKP4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000374409		CCDS33305.1			1	
EIF4ENIF1	0	LGGM	GRCh37	22	31867840	31867840	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	89	19	.	.	ENST00000397525.1:c.160A>T	p.Lys54Ter	p.K54*	ENST00000397525	NM_001164501.1	54	Aaa/Taa	0	1		UPI0000124F14	0	NA	ENST00000330125		ENSG00000184708	16687		108	0		HGNC	p.K54X		EIF4ENIF1		SNV							ENST00000397525	protein_coding	getma.org/?cm=var&var=hg19,22,31867840,T,A&fts=all		hmmpanther:PTHR12269,Pfam_domain:PF10477		K/*		A	NA	235/3544		NA		B1AKL6_HUMAN,B1AKL5_HUMAN				EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000397525,NM_001164501.1;EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000330125,NM_019843.3;EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000397523,;EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000344710,NM_001164502.1;EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000423097,;EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000397520,;EIF4ENIF1,stop_gained,p.Lys54Ter,ENST00000397518,;DRG1,intron_variant,,ENST00000548143,;							HIGH	160/2958	K54*	4ET_HUMAN			Transcript			.	ENSP00000328103		CCDS13898.1			1	
STX6	0	LGGM	GRCh37	1	180974531	180974531	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	55	20	.	.	ENST00000258301.5:c.104C>T	p.Pro35Leu	p.P35L	ENST00000258301	NM_005819.4	35	cCc/cTc	0	1	1	UPI00000490D6	0	getma.org/pdb.php?prot=STX6_HUMAN&from=5&to=103&var=P35L	ENST00000258301		ENSG00000135823	11441		75	1.845		HGNC	p.P35L	rs756899431	STX6	6.06E-05	SNV							ENST00000258301	protein_coding	getma.org/?cm=var&var=hg19,1,180974531,G,A&fts=all		Gene3D:1.20.58.90,Pfam_domain:PF09177,hmmpanther:PTHR12380,hmmpanther:PTHR12380:SF35,Superfamily_domains:SSF47661		P/L		A	low	342/4851		getma.org/?cm=msa&ty=f&p=STX6_HUMAN&rb=5&re=103&var=P35L	tolerated(0.19)	B4DR17_HUMAN			YES	STX6,missense_variant,p.Pro35Leu,ENST00000258301,NM_005819.4;STX6,intron_variant,,ENST00000542060,NM_001286210.1;							MODERATE	104/768	P35L	STX6_HUMAN			Transcript		benign(0.351)	.	ENSP00000258301	8.24E-06	CCDS1341.1			1	
RAX	0	LGGM	GRCh37	18	56939661	56939661	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	32	20	.	.	ENST00000334889.3:c.475C>G	p.His159Asp	p.H159D	ENST00000334889	NM_013435.2	159	Cac/Gac	0	1	1	UPI000013CF2F	0	getma.org/pdb.php?prot=RX_HUMAN&from=137&to=193&var=H159D	ENST00000334889		ENSG00000134438	18662		52	2.505		HGNC	p.H159D		RAX		SNV			1				ENST00000334889	protein_coding	getma.org/?cm=var&var=hg19,18,56939661,G,C&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF302,SMART_domains:SM00389,Superfamily_domains:SSF46689		H/D		C	medium	662/3197		getma.org/?cm=msa&ty=f&p=RX_HUMAN&rb=137&re=193&var=H159D	deleterious(0)	G3V2C8_HUMAN			YES	RAX,missense_variant,p.His159Asp,ENST00000334889,NM_013435.2;RAX,intron_variant,,ENST00000256852,;CPLX4,downstream_gene_variant,,ENST00000587244,;RAX,downstream_gene_variant,,ENST00000555288,;RAX,non_coding_transcript_exon_variant,,ENST00000591550,;							MODERATE	475/1041	H159D	RX_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000334813		CCDS11972.1			1	
GORAB	0	LGGM	GRCh37	1	170508694	170508694	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	62	20	.	.	ENST00000367763.3:c.480A>G	p.Lys160=	p.K160=	ENST00000367763	NM_152281.2	160	aaA/aaG	0	1	1	UPI000013FDCA	0		ENST00000367763		ENSG00000120370	25676		82			HGNC	p.K160K		GORAB		SNV			1				ENST00000367762	protein_coding			hmmpanther:PTHR21470,hmmpanther:PTHR21470:SF2,Low_complexity_(Seg):seg		K		G		500/2189							YES	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,;							LOW	480/1185		GORAB_HUMAN			Transcript			.	ENSP00000356737		CCDS1289.1			1	
HMG20A	0	LGGM	GRCh37	15	77771577	77771577	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	45	20	.	.	ENST00000381714.3:c.964A>T	p.Ser322Cys	p.S322C	ENST00000381714	NM_018200.2	322	Agt/Tgt	0	1		UPI00000737EF	0	NA	ENST00000336216		ENSG00000140382	5001		65	1.79		HGNC	p.S322C		HMG20A		SNV							ENST00000336216	protein_coding	getma.org/?cm=var&var=hg19,15,77771577,A,T&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF158		S/C		T	low	1322/4046		getma.org/?cm=msa&ty=f&p=HM20A_HUMAN&rb=172&re=347&var=S322C	deleterious(0.01)	H0YNS8_HUMAN,H0YMS9_HUMAN,H0YM80_HUMAN,H0YKM5_HUMAN,H0YK55_HUMAN,B4DMG1_HUMAN				HMG20A,missense_variant,p.Ser322Cys,ENST00000381714,NM_018200.2;HMG20A,missense_variant,p.Ser322Cys,ENST00000336216,;HMG20A,missense_variant,p.Ser93Cys,ENST00000558845,;HMG20A,non_coding_transcript_exon_variant,,ENST00000559728,;HMG20A,upstream_gene_variant,,ENST00000558288,;							MODERATE	964/1044	S322C	HM20A_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000336856		CCDS10295.1			1	
MXRA5	0	LGGM	GRCh37	X	3228242	3228242	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	34	21	.	.	ENST00000217939.6:c.8002C>T	p.Arg2668Cys	p.R2668C	ENST00000217939	NM_015419.3	2668	Cgt/Tgt	0	1	1	UPI000013C73B	0	getma.org/pdb.php?prot=MXRA5_HUMAN&from=2637&to=2728&var=R2668C	ENST00000217939		ENSG00000101825	7539		55	2.645		HGNC	p.R2668C	COSM3973602,COSM3973601	MXRA5		SNV						1,1	ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3228242,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/C		A	medium	8157/9793		getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=2637&re=2728&var=R2668C	deleterious(0)				YES	MXRA5,missense_variant,p.Arg2668Cys,ENST00000217939,NM_015419.3;					1,1		MODERATE	8002/8487	R2668C	MXRA5_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000217939		CCDS14124.1			1	
FMN1	0	LGGM	GRCh37	15	33300257	33300257	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	55	21	.	.	ENST00000334528.9:c.1512A>G	p.Leu504=	p.L504=	ENST00000334528	NM_001103184.3	504	ttA/ttG	0	1		UPI0001AE68B4	0		ENST00000559047		ENSG00000248905	3768		76			HGNC	p.L629L		FMN1		SNV							ENST00000561249	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037,Prints_domain:PR00828		L		C		2181/4260								FMN1,synonymous_variant,p.=,ENST00000334528,NM_001103184.3;FMN1,synonymous_variant,p.=,ENST00000559047,NM_001277313.1;FMN1,synonymous_variant,p.=,ENST00000561249,;HNRNPA1P71,upstream_gene_variant,,ENST00000559135,;							LOW	2181/4260		FMN1_HUMAN			Transcript			.	ENSP00000454047		CCDS61581.1			1	
USP13	0	LGGM	GRCh37	3	179448045	179448045	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	34	22	.	.	ENST00000263966.3:c.1157A>G	p.Gln386Arg	p.Q386R	ENST00000263966	NM_003940.2	386	cAg/cGg	0	1	1	UPI000006DC10	0	getma.org/pdb.php?prot=UBP13_HUMAN&from=333&to=858&var=Q386R	ENST00000263966		ENSG00000058056	12611		56	3.13		HGNC	p.Q32R	rs749784549	USP13	6.06E-05	SNV							ENST00000497155	protein_coding	getma.org/?cm=var&var=hg19,3,179448045,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF426,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001		Q/R		G	medium	1628/8323		getma.org/?cm=msa&ty=f&p=UBP13_HUMAN&rb=333&re=858&var=Q386R	deleterious(0)				YES	USP13,missense_variant,p.Gln386Arg,ENST00000263966,NM_003940.2;USP13,missense_variant,p.Gln321Arg,ENST00000496897,;USP13,missense_variant,p.Gln32Arg,ENST00000497155,;USP13,non_coding_transcript_exon_variant,,ENST00000482333,;							MODERATE	1157/2592	Q386R	UBP13_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000263966	8.24E-06	CCDS3235.1			1	
C2orf44	0	LGGM	GRCh37	2	24261529	24261529	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	42	22	.	.	ENST00000295148.4:c.836A>G	p.Tyr279Cys	p.Y279C	ENST00000295148	NM_025203.2	279	tAt/tGt	0	1	1	UPI0000070788	0	NA	ENST00000295148		ENSG00000163026	26157		64	0.69		HGNC	p.Y279C		C2orf44		SNV							ENST00000406895	protein_coding	getma.org/?cm=var&var=hg19,2,24261529,T,C&fts=all		hmmpanther:PTHR14897,hmmpanther:PTHR14897:SF2,Pfam_domain:PF15390		Y/C		C	neutral	894/3817		getma.org/?cm=msa&ty=f&p=CB044_HUMAN&rb=1&re=443&var=Y279C	tolerated(0.17)	C9JYC1_HUMAN			YES	C2orf44,missense_variant,p.Tyr279Cys,ENST00000295148,NM_025203.2;C2orf44,missense_variant,p.Tyr279Cys,ENST00000406895,NM_001142319.1;C2orf44,downstream_gene_variant,,ENST00000443232,;MFSD2B,intron_variant,,ENST00000453731,;							MODERATE	836/2166	Y279C	CB044_HUMAN			Transcript		benign(0.005)	.	ENSP00000295148		CCDS1705.1			1	
ADAM29	0	LGGM	GRCh37	4	175898556	175898556	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	63	22	.	.	ENST00000359240.3:c.1880C>A	p.Pro627His	p.P627H	ENST00000359240	NM_014269.4	627	cCt/cAt	0	1	1	UPI000013E9DE	0	NA	ENST00000359240		ENSG00000168594	207		85	3.135		HGNC	p.P627H		ADAM29		SNV							ENST00000514159	protein_coding	getma.org/?cm=var&var=hg19,4,175898556,C,A&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34		P/H		A	medium	2550/3325		getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=625&re=654&var=P627H	deleterious(0.02)	D6RHU0_HUMAN,D6RBU0_HUMAN			YES	ADAM29,missense_variant,p.Pro627His,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Pro627His,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Pro627His,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Pro627His,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,;							MODERATE	1880/2463	P627H	ADA29_HUMAN			Transcript		benign(0.334)	.	ENSP00000352177		CCDS3823.1			1	
OR4D11	0	LGGM	GRCh37	11	59271520	59271520	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	53	23	.	.	ENST00000313253.1:c.472G>A	p.Val158Met	p.V158M	ENST00000313253	NM_001004706.1	158	Gtg/Atg	0	1	1	UPI0000046486	0	NA	ENST00000313253		ENSG00000176200	15174		76	1.97		HGNC	p.V158M	rs757517841	OR4D11	0.000424	SNV							ENST00000313253	protein_coding	getma.org/?cm=var&var=hg19,11,59271520,G,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF200,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		V/M		A	medium	472/936	1.50E-05	getma.org/?cm=msa&ty=f&p=OR4DB_HUMAN&rb=140&re=280&var=V158M	deleterious(0.02)				YES	OR4D11,missense_variant,p.Val158Met,ENST00000313253,NM_001004706.1;RNU6-779P,downstream_gene_variant,,ENST00000516609,;							MODERATE	472/936	V158M	OR4DB_HUMAN			Transcript		possibly_damaging(0.527)	common_variant	ENSP00000320077	6.59E-05	CCDS31563.1			1	
BSN	0	LGGM	GRCh37	3	49693054	49693054	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	53	23	.	.	ENST00000296452.4:c.6065C>T	p.Ser2022Phe	p.S2022F	ENST00000296452	NM_003458.3	2022	tCc/tTc	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		76	2.045		HGNC	p.S2022F		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49693054,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		S/F		T	medium	6179/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=1630&re=2290&var=S2022F					YES	BSN,missense_variant,p.Ser2022Phe,ENST00000296452,NM_003458.3;BSN,downstream_gene_variant,,ENST00000467456,;							MODERATE	6065/11781	S2022F	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
DNASE1L3	0	LGGM	GRCh37	3	58186726	58186726	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	70	24	.	.	ENST00000318316.3:c.544G>A	p.Glu182Lys	p.E182K	ENST00000318316		182	Gag/Aag	0	1		UPI0000129890	0	getma.org/pdb.php?prot=DNSL3_HUMAN&from=24&to=274&var=E182K	ENST00000394549		ENSG00000163687	2959		94	1.48		HGNC	p.E182K		DNASE1L3		SNV			1				ENST00000318316	protein_coding	getma.org/?cm=var&var=hg19,3,58186726,C,T&fts=all		Gene3D:3.60.10.10,Pfam_domain:PF03372,PIRSF_domain:PIRSF000988,Prints_domain:PR00130,hmmpanther:PTHR11371,hmmpanther:PTHR11371:SF21,SMART_domains:SM00476,Superfamily_domains:SSF56219		E/K		T	low	861/1294		getma.org/?cm=msa&ty=f&p=DNSL3_HUMAN&rb=24&re=274&var=E182K	tolerated(0.22)	C9J9N0_HUMAN,C9J0L2_HUMAN				DNASE1L3,missense_variant,p.Glu182Lys,ENST00000483681,;DNASE1L3,missense_variant,p.Glu182Lys,ENST00000318316,;DNASE1L3,missense_variant,p.Glu152Lys,ENST00000486455,NM_001256560.1;DNASE1L3,missense_variant,p.Glu182Lys,ENST00000394549,NM_004944.3;DNASE1L3,missense_variant,p.Glu56Lys,ENST00000477209,;DNASE1L3,downstream_gene_variant,,ENST00000460422,;DNASE1L3,downstream_gene_variant,,ENST00000461914,;							MODERATE	544/918	E182K	DNSL3_HUMAN			Transcript		benign(0.192)	.	ENSP00000378053		CCDS2886.1			1	
NAP1L4	0	LGGM	GRCh37	11	2975870	2975870	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	48	25	.	.	ENST00000380542.4:c.922G>A	p.Asp308Asn	p.D308N	ENST00000380542	NM_005969.3	308	Gat/Aat	0	1	1	UPI00001303EA	0	getma.org/pdb.php?prot=NP1L4_HUMAN&from=64&to=339&var=D308N	ENST00000380542		ENSG00000205531	7640		73	2.835		HGNC	p.D308N		NAP1L4		SNV							ENST00000380542	protein_coding	getma.org/?cm=var&var=hg19,11,2975870,C,T&fts=all		hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF34,Pfam_domain:PF00956,Superfamily_domains:SSF143113		D/N		T	medium	1063/2511		getma.org/?cm=msa&ty=f&p=NP1L4_HUMAN&rb=64&re=339&var=D308N	deleterious(0.04)	E9PS34_HUMAN,E9PNW0_HUMAN,E9PNJ7_HUMAN,E9PKI2_HUMAN,E9PJJ2_HUMAN,C9J6D1_HUMAN,A8MXH2_HUMAN			YES	NAP1L4,missense_variant,p.Asp308Asn,ENST00000380542,NM_005969.3;NAP1L4,missense_variant,p.Asp308Asn,ENST00000526115,;NAP1L4,downstream_gene_variant,,ENST00000448187,;NAP1L4,downstream_gene_variant,,ENST00000532325,;NAP1L4,upstream_gene_variant,,ENST00000469089,;NAP1L4,upstream_gene_variant,,ENST00000526023,;NAP1L4,missense_variant,p.Asp164Asn,ENST00000492685,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000483643,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000528363,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000528261,;NAP1L4,non_coding_transcript_exon_variant,,ENST00000492594,;NAP1L4,upstream_gene_variant,,ENST00000469805,;							MODERATE	922/1128	D308N	NP1L4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000369915		CCDS41599.1			1	
STOML3	0	LGGM	GRCh37	13	39544462	39544462	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	70	26	.	.	ENST00000379631.4:c.376G>A	p.Ala126Thr	p.A126T	ENST00000379631	NM_145286.2	126	Gct/Act	0	1	1	UPI000003615B	0	getma.org/pdb.php?prot=STML3_HUMAN&from=52&to=225&var=A126T	ENST00000379631		ENSG00000133115	19420		96	2.775		HGNC	p.A117T		STOML3		SNV							ENST00000423210	protein_coding	getma.org/?cm=var&var=hg19,13,39544462,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10264:SF75,hmmpanther:PTHR10264,Pfam_domain:PF01145,SMART_domains:SM00244,Superfamily_domains:0050593,Prints_domain:PR00721		A/T		T	medium	721/2121		getma.org/?cm=msa&ty=f&p=STML3_HUMAN&rb=52&re=225&var=A126T	deleterious(0.02)				YES	STOML3,missense_variant,p.Ala126Thr,ENST00000379631,NM_145286.2;STOML3,missense_variant,p.Ala117Thr,ENST00000423210,NM_001144033.1;							MODERATE	376/876	A126T	STML3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368952		CCDS9367.1			1	
LRRC46	0	LGGM	GRCh37	17	45911796	45911796	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	53	26	.	.	ENST00000269025.4:c.122A>C	p.His41Pro	p.H41P	ENST00000269025	NM_033413.3	41	cAc/cCc	0	1	1	UPI0000072C2E	0	NA	ENST00000269025		ENSG00000141294	25047		79	0.805		HGNC	p.H41P		LRRC46		SNV							ENST00000269025	protein_coding	getma.org/?cm=var&var=hg19,17,45911796,A,C&fts=all		hmmpanther:PTHR10588:SF196,hmmpanther:PTHR10588,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		H/P		C	low	485/1922		getma.org/?cm=msa&ty=f&p=LRC46_HUMAN&rb=1&re=43&var=H41P	deleterious(0.02)	A8K9Q0_HUMAN			YES	LRRC46,missense_variant,p.His41Pro,ENST00000269025,NM_033413.3;MRPL10,upstream_gene_variant,,ENST00000290208,;SCRN2,downstream_gene_variant,,ENST00000407215,;SCRN2,downstream_gene_variant,,ENST00000584123,;MRPL10,upstream_gene_variant,,ENST00000351111,NM_145255.3;MRPL10,upstream_gene_variant,,ENST00000414011,NM_148887.2;SCRN2,downstream_gene_variant,,ENST00000290216,NM_001145023.1,NM_138355.3;SCRN2,downstream_gene_variant,,ENST00000584567,;LRRC46,missense_variant,p.His41Pro,ENST00000579971,;LRRC46,3_prime_UTR_variant,,ENST00000584580,;LRRC46,3_prime_UTR_variant,,ENST00000579742,;LRRC46,non_coding_transcript_exon_variant,,ENST00000584809,;SCRN2,downstream_gene_variant,,ENST00000582459,;MRPL10,upstream_gene_variant,,ENST00000421763,;SCRN2,downstream_gene_variant,,ENST00000581645,;SCRN2,downstream_gene_variant,,ENST00000579856,;SCRN2,downstream_gene_variant,,ENST00000583090,;MRPL10,upstream_gene_variant,,ENST00000423147,;MRPL10,upstream_gene_variant,,ENST00000480901,;SCRN2,downstream_gene_variant,,ENST00000582656,;MRPL10,upstream_gene_variant,,ENST00000466016,;							MODERATE	122/966	H41P	LRC46_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000269025		CCDS11518.1			1	
ADAM22	0	LGGM	GRCh37	7	87792442	87792442	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	44	26	.	.	ENST00000265727.7:c.2023A>T	p.Asn675Tyr	p.N675Y	ENST00000265727		675	Aac/Tac	0	1	1	UPI00001254DC	0	getma.org/pdb.php?prot=ADA22_HUMAN&from=675&to=712&var=N675Y	ENST00000265727		ENSG00000008277	201		70	2.67		HGNC	p.N675Y		ADAM22		SNV							ENST00000265727	protein_coding	getma.org/?cm=var&var=hg19,7,87792442,A,T&fts=all		hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905		N/Y		T	medium	2102/2891		getma.org/?cm=msa&ty=f&p=ADA22_HUMAN&rb=675&re=712&var=N675Y	deleterious(0)	Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN			YES	ADAM22,missense_variant,p.Asn675Tyr,ENST00000398204,NM_021723.3,NM_016351.4;ADAM22,missense_variant,p.Asn675Tyr,ENST00000398209,NM_021722.4;ADAM22,missense_variant,p.Asn675Tyr,ENST00000315984,;ADAM22,missense_variant,p.Asn675Tyr,ENST00000265727,;ADAM22,missense_variant,p.Asn675Tyr,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,missense_variant,p.Asn642Tyr,ENST00000398203,;ADAM22,missense_variant,p.Asn33Tyr,ENST00000426930,;ADAM22,upstream_gene_variant,,ENST00000413139,;							MODERATE	2023/2721	N675Y	ADA22_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265727		CCDS47637.1			1	
NUSAP1	0	LGGM	GRCh37	15	41672307	41672307	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	41	29	.	.	ENST00000559596.1:c.1249A>T	p.Lys417Ter	p.K417*	ENST00000559596		417	Aaa/Taa	0	1	1	UPI0000072C6B	0	NA	ENST00000559596		ENSG00000137804	18538		70	0		HGNC	p.K402X		NUSAP1		SNV							ENST00000260359	protein_coding	getma.org/?cm=var&var=hg19,15,41672307,A,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15874,hmmpanther:PTHR15874:SF1		K/*		T	NA	1336/1629		NA					YES	NUSAP1,stop_gained,p.Lys402Ter,ENST00000260359,NM_018454.7,NM_001243142.1,NM_016359.4,NM_001243143.1;NUSAP1,stop_gained,p.Lys378Ter,ENST00000450318,NM_001243144.1;NUSAP1,stop_gained,p.Lys416Ter,ENST00000414849,;NUSAP1,stop_gained,p.Lys415Ter,ENST00000560747,;NUSAP1,stop_gained,p.Lys416Ter,ENST00000560177,;NUSAP1,stop_gained,p.Lys417Ter,ENST00000559596,;NUSAP1,stop_gained,p.Lys354Ter,ENST00000450592,;NUSAP1,non_coding_transcript_exon_variant,,ENST00000558123,;NUSAP1,downstream_gene_variant,,ENST00000560898,;NUSAP1,downstream_gene_variant,,ENST00000560318,;NUSAP1,downstream_gene_variant,,ENST00000557840,;							HIGH	1249/1326	K417*	NUSAP_HUMAN			Transcript			.	ENSP00000453403		CCDS45234.1			1	
MCM3AP	0	LGGM	GRCh37	21	47663381	47663381	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	82	32	.	.	ENST00000397708.1:c.5294C>A	p.Ser1765Ter	p.S1765*	ENST00000397708		1765	tCa/tAa	0	1		UPI000012ED4A	0	NA	ENST00000291688		ENSG00000160294	6946		114	0		HGNC	p.S1765X		MCM3AP		SNV							ENST00000291688	protein_coding	getma.org/?cm=var&var=hg19,21,47663381,G,T&fts=all		hmmpanther:PTHR12436,hmmpanther:PTHR12436:SF18		S/*		T	NA	5330/6113		NA		N0GVG8_HUMAN,B3KWZ4_HUMAN				MCM3AP,stop_gained,p.Ser1765Ter,ENST00000397708,;MCM3AP,stop_gained,p.Ser1765Ter,ENST00000291688,NM_003906.3;MCM3AP-AS1,non_coding_transcript_exon_variant,,ENST00000591223,;MCM3AP-AS1,intron_variant,,ENST00000414659,;MCM3AP-AS1,intron_variant,,ENST00000455567,;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,intron_variant,,ENST00000588753,;MCM3AP-AS1,downstream_gene_variant,,ENST00000432735,;MCM3AP-AS1,downstream_gene_variant,,ENST00000421927,;MCM3AP-AS1,downstream_gene_variant,,ENST00000444998,;AP001469.7,upstream_gene_variant,,ENST00000444966,;MCM3AP,splice_region_variant,,ENST00000467026,;MCM3AP,splice_region_variant,,ENST00000486937,;MCM3AP,splice_region_variant,,ENST00000496607,;							HIGH	5294/5943	S1765*	GANP_HUMAN			Transcript			.	ENSP00000291688		CCDS13734.1			1	
KCNH5	0	LGGM	GRCh37	14	63453901	63453901	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	97	33	.	.	ENST00000322893.7:c.438G>A	p.Trp146Ter	p.W146*	ENST00000322893	NM_139318.4	146	tgG/tgA	0	1	1	UPI0000039E2D	0	NA	ENST00000322893		ENSG00000140015	6254		130	0		HGNC	p.W146X	COSM3496848,COSM3496849	KCNH5		SNV						1,1	ENST00000322893	protein_coding	getma.org/?cm=var&var=hg19,14,63453901,C,T&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376		W/*		T	NA	707/4175		NA					YES	KCNH5,stop_gained,p.Trp146Ter,ENST00000322893,NM_139318.4;KCNH5,stop_gained,p.Trp146Ter,ENST00000420622,NM_172375.2;KCNH5,stop_gained,p.Trp88Ter,ENST00000394968,;KCNH5,stop_gained,p.Trp88Ter,ENST00000394964,;					1,1		HIGH	438/2967	W146*	KCNH5_HUMAN			Transcript			.	ENSP00000321427		CCDS9756.1			1	
TTC39C	0	LGGM	GRCh37	18	21649130	21649130	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091469	H091469N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	80	45	.	.	ENST00000317571.3:c.355C>T	p.Arg119Ter	p.R119*	ENST00000317571	NM_001135993.1	119	Cga/Tga	0	1	1	UPI0000EF8875	0	NA	ENST00000317571		ENSG00000168234	26595		125	0		HGNC	p.R58X	rs767550136	TTC39C		SNV							ENST00000304621	protein_coding	getma.org/?cm=var&var=hg19,18,21649130,C,T&fts=all		Pfam_domain:PF10300,hmmpanther:PTHR31859		R/*		T	NA	591/2442		NA		J3QKX7_HUMAN			YES	TTC39C,stop_gained,p.Arg119Ter,ENST00000317571,NM_001135993.1;TTC39C,stop_gained,p.Arg58Ter,ENST00000304621,NM_153211.3;TTC39C,intron_variant,,ENST00000578150,;							HIGH	355/1752	R119*	TT39C_HUMAN			Transcript			.	ENSP00000323645		CCDS45839.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20222206	20222206	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	74	46	.	.	ENST00000379565.3:c.259A>G	p.Lys87Glu	p.K87E	ENST00000379565	NM_004586.2	87	Aaa/Gaa	0	1	1	UPI000012DB2E	0	getma.org/pdb.php?prot=KS6A3_HUMAN&from=68&to=327&var=K87E	ENST00000379565		ENSG00000177189	10432		120	0.525		HGNC	p.K59E		RPS6KA3		SNV			1				ENST00000544447	protein_coding	getma.org/?cm=var&var=hg19,X,20222206,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		K/E		C	neutral	467/7918		getma.org/?cm=msa&ty=f&p=KS6A3_HUMAN&rb=68&re=327&var=K87E	deleterious(0)	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,missense_variant,p.Lys87Glu,ENST00000379565,NM_004586.2;RPS6KA3,missense_variant,p.Lys59Glu,ENST00000544447,;RPS6KA3,missense_variant,p.Lys59Glu,ENST00000540702,;RPS6KA3,missense_variant,p.Lys58Glu,ENST00000379548,;RPS6KA3,missense_variant,p.Lys58Glu,ENST00000457145,;RPS6KA3,missense_variant,p.Lys59Glu,ENST00000438357,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000492128,;RPS6KA3,non_coding_transcript_exon_variant,,ENST00000474266,;							MODERATE	259/2223	K87E	KS6A3_HUMAN			Transcript		possibly_damaging(0.743)	.	ENSP00000368884		CCDS14197.1			1	
CALCR	0	LGGM	GRCh37	7	93108745	93108745	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	84	46	.	.	ENST00000359558.2:c.180C>A	p.Val60=	p.V60=	ENST00000359558	NM_001164737.1	60	gtC/gtA	0	1	1	UPI0001B8380B	0		ENST00000359558		ENSG00000004948	1440		130			HGNC	p.V42V		CALCR		SNV							ENST00000415529	protein_coding			hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF84,Superfamily_domains:SSF111418,Prints_domain:PR00361		V		T		480/3696							YES	CALCR,synonymous_variant,p.=,ENST00000359558,NM_001164737.1;CALCR,synonymous_variant,p.=,ENST00000421592,;CALCR,synonymous_variant,p.=,ENST00000360249,;CALCR,synonymous_variant,p.=,ENST00000394441,NM_001164738.1;CALCR,synonymous_variant,p.=,ENST00000426151,NM_001742.3;MIR653,downstream_gene_variant,,ENST00000385279,;MIR489,downstream_gene_variant,,ENST00000384923,;CALCR,synonymous_variant,p.=,ENST00000423724,;CALCR,synonymous_variant,p.=,ENST00000415529,;							LOW	180/1527					Transcript			.	ENSP00000352561		CCDS55125.1			1	
ANO5	0	LGGM	GRCh37	11	22277021	22277021	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091469	H091469N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	136	63	.	.	ENST00000324559.8:c.1285G>T	p.Glu429Ter	p.E429*	ENST00000324559	NM_001142649.1	429	Gaa/Taa	0	1	1	UPI000035B19B	0	NA	ENST00000324559		ENSG00000171714	27337		199	0		HGNC	p.E429X		ANO5		SNV			1				ENST00000324559	protein_coding	getma.org/?cm=var&var=hg19,11,22277021,G,T&fts=all		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF23,Pfam_domain:PF04547		E/*		T	NA	1602/6651		NA					YES	ANO5,stop_gained,p.Glu429Ter,ENST00000324559,NM_001142649.1,NM_213599.2;							HIGH	1285/2742	E429*	ANO5_HUMAN			Transcript			.	ENSP00000315371		CCDS31444.1			1	
TTC14	0	LGGM	GRCh37	3	180327829	180327829	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091469	H091469N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	171	78	.	.	ENST00000296015.4:c.1812T>A	p.Tyr604Ter	p.Y604*	ENST00000296015	NM_133462.3	604	taT/taA	0	1	1	UPI00000720AE	0	NA	ENST00000296015		ENSG00000163728	24697		249	0		HGNC	p.Y604X		TTC14		SNV							ENST00000296015	protein_coding	getma.org/?cm=var&var=hg19,3,180327829,T,A&fts=all		hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184		Y/*		A	NA	1944/2881		NA		C9JBA2_HUMAN,C9J974_HUMAN			YES	TTC14,stop_gained,p.Tyr604Ter,ENST00000296015,NM_133462.3;TTC14,3_prime_UTR_variant,,ENST00000412756,NM_001042601.2;TTC14,intron_variant,,ENST00000382584,NM_001288582.1;CCDC39,intron_variant,,ENST00000489868,;CCDC39,intron_variant,,ENST00000473854,;CCDC39,downstream_gene_variant,,ENST00000273654,;CCDC39,downstream_gene_variant,,ENST00000442201,NM_181426.1;TTC14,non_coding_transcript_exon_variant,,ENST00000465625,;TTC14,intron_variant,,ENST00000487397,;TTC14,3_prime_UTR_variant,,ENST00000465065,;CCDC39,downstream_gene_variant,,ENST00000476379,;TTC14,downstream_gene_variant,,ENST00000470669,;							HIGH	1812/2313	Y604*	TTC14_HUMAN			Transcript			.	ENSP00000296015		CCDS3237.1			1	
ATP7A	0	LGGM	GRCh37	X	77264696	77264696	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	177	78	.	.	ENST00000341514.6:c.1805A>G	p.Asn602Ser	p.N602S	ENST00000341514	NM_000052.5	602	aAc/aGc	0	1	1	UPI000013E478	0	getma.org/pdb.php?prot=ATP7A_HUMAN&from=567&to=628&var=N602S	ENST00000341514		ENSG00000165240	869		255	0.28		HGNC	p.N602S		ATP7A		SNV			1				ENST00000343533	protein_coding	getma.org/?cm=var&var=hg19,X,77264696,A,G&fts=all		Prints_domain:PR00942,Superfamily_domains:SSF55008,Gene3D:3.30.70.100,Pfam_domain:PF00403,TIGRFAM_domain:TIGR00003,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF211,PROSITE_profiles:PS50846		N/S		G	neutral	1960/8483		getma.org/?cm=msa&ty=f&p=ATP7A_HUMAN&rb=567&re=628&var=N602S	tolerated(1)				YES	ATP7A,missense_variant,p.Asn602Ser,ENST00000341514,NM_000052.5;ATP7A,missense_variant,p.Asn602Ser,ENST00000343533,;ATP7A,intron_variant,,ENST00000350425,;							MODERATE	1805/4503	N602S	ATP7A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345728		CCDS35339.1			1	
TTN	0	LGGM	GRCh37	2	179438233	179438233	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091469	H091469N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091469N.bam, H091469T.bam	Illumina HiSeq	134	84	.	.	ENST00000589042.1:c.72626T>C	p.Leu24209Pro	p.L24209P	ENST00000589042	NM_001267550.1	24209	cTg/cCg	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		218	3.25		HGNC	p.L15269P		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179438233,A,G&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF49265		L/P		G	medium	67928/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=22483&re=22568&var=L22568P		C9JQJ2_HUMAN				TTN,missense_variant,p.Leu24209Pro,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Leu22568Pro,ENST00000591111,;TTN,missense_variant,p.Leu21641Pro,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Leu15336Pro,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Leu15269Pro,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Leu15144Pro,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,;							MODERATE	67703/103053	L22568P	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
RRBP1	0	LGGM	GRCh37	20	17623679	17623679	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091504	H091504N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	8	2	.	.	ENST00000377807.2:c.707G>T	p.Arg236Leu	p.R236L	ENST00000377807	NM_001042576.1	236	cGg/cTg	0	1	1	UPI000002B2C0	0	NA	ENST00000377807		ENSG00000125844	10448		10	0.69		HGNC	p.R236L		RRBP1		SNV							ENST00000360807	protein_coding	getma.org/?cm=var&var=hg19,20,17623679,C,A&fts=all		hmmpanther:PTHR18939:SF4,hmmpanther:PTHR18939		R/L		A	neutral	1061/3792		getma.org/?cm=msa&ty=f&p=RRBP1_HUMAN&rb=611&re=799&var=R669L	deleterious(0.05)	F8W7S5_HUMAN			YES	RRBP1,missense_variant,p.Arg669Leu,ENST00000377813,;RRBP1,missense_variant,p.Arg669Leu,ENST00000246043,;RRBP1,missense_variant,p.Arg236Leu,ENST00000377807,NM_001042576.1;RRBP1,missense_variant,p.Arg236Leu,ENST00000360807,NM_004587.2;RRBP1,missense_variant,p.Arg10Leu,ENST00000455029,;RRBP1,intron_variant,,ENST00000495501,;							MODERATE	707/2934	R669L	RRBP1_HUMAN			Transcript		benign(0.433)	.	ENSP00000367038		CCDS13128.1			1	
MICAL3	0	LGGM	GRCh37	22	18300635	18300635	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091504	H091504N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	13	2	.	.	ENST00000441493.2:c.4792C>A	p.Arg1598=	p.R1598=	ENST00000441493	NM_015241.2	1598	Cga/Aga	0	1	1	UPI0001823FDE	0		ENST00000441493		ENSG00000243156	24694		15			HGNC	p.R1598R		MICAL3		SNV							ENST00000441493	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218		R		T		5145/9445				C9J922_HUMAN,A8K0E1_HUMAN			YES	MICAL3,synonymous_variant,p.=,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,;							LOW	4792/6009		MICA3_HUMAN			Transcript			.	ENSP00000416015		CCDS46659.1			1	
RNF111	0	LGGM	GRCh37	15	59323599	59323599	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091504	H091504N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	45	3	.	.	ENST00000559209.1:c.578C>A	p.Ser193Ter	p.S193*	ENST00000559209		193	tCg/tAg	0	1		UPI0000D6134A	0	NA	ENST00000557998		ENSG00000157450	17384		48	0		HGNC	p.S193X		RNF111		SNV							ENST00000557998	protein_coding	getma.org/?cm=var&var=hg19,15,59323599,C,A&fts=all		hmmpanther:PTHR13644,hmmpanther:PTHR13644:SF1,Pfam_domain:PF15303		S/*		A	NA	865/4803		NA		H0YKS2_HUMAN				RNF111,stop_gained,p.Ser193Ter,ENST00000348370,NM_001270528.1,NM_001270529.1,NM_017610.7;RNF111,stop_gained,p.Ser193Ter,ENST00000434298,;RNF111,stop_gained,p.Ser193Ter,ENST00000559209,;RNF111,stop_gained,p.Ser193Ter,ENST00000557998,NM_001270530.1;RNF111,stop_gained,p.Ser193Ter,ENST00000561186,;RNF111,downstream_gene_variant,,ENST00000559160,;RNF111,upstream_gene_variant,,ENST00000559592,;RNF111,downstream_gene_variant,,ENST00000559757,;							HIGH	578/2985	S193*	RN111_HUMAN			Transcript			.	ENSP00000452732		CCDS58366.1			1	
PPRC1	0	LGGM	GRCh37	10	103899874	103899874	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091504	H091504N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	38	3	.	.	ENST00000278070.2:c.1609C>A	p.Pro537Thr	p.P537T	ENST00000278070	NM_015062.3	537	Cct/Act	0	1	1	UPI000013DB5C	0	NA	ENST00000278070		ENSG00000148840	30025		41	0		HGNC	p.P537T		PPRC1		SNV							ENST00000413464	protein_coding	getma.org/?cm=var&var=hg19,10,103899874,C,A&fts=all		hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF5		P/T		A	neutral	1648/5330		getma.org/?cm=msa&ty=f&p=PPRC1_HUMAN&rb=370&re=569&var=P537T	tolerated_low_confidence(0.06)				YES	PPRC1,missense_variant,p.Pro537Thr,ENST00000278070,NM_015062.3,NM_001288728.1;PPRC1,missense_variant,p.Pro537Thr,ENST00000413464,NM_001288727.1;PPRC1,upstream_gene_variant,,ENST00000370012,;PPRC1,upstream_gene_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000462933,;							MODERATE	1609/4995	P537T	PPRC1_HUMAN			Transcript		benign(0.067)	.	ENSP00000278070		CCDS7529.1			1	
NUP153	0	LGGM	GRCh37	6	17633077	17633078	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	G	novel	by Submitter	H091504	H091504N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	4	4	.	.	ENST00000262077.2:c.2465-3_2465-2insC		p.X822_splice	ENST00000262077	NM_001278210.1			0	1	1	UPI000013D251	0		ENST00000262077		ENSG00000124789	8062		8			HGNC	-	rs36027788	NUP153		insertion							ENST00000262077	protein_coding							G		-/5487							YES	NUP153,splice_region_variant,,ENST00000262077,NM_001278210.1,NM_005124.3;NUP153,splice_region_variant,,ENST00000537253,NM_001278209.1;							LOW	-/4428		NU153_HUMAN			Transcript			.	ENSP00000262077		CCDS4541.1			1	
BAI1	0	LGGM	GRCh37	8	143599524	143599524	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091504	H091504N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	30	4	.	.	ENST00000517894.1:c.2843C>A	p.Ser948Ter	p.S948*	ENST00000517894		948	tCg/tAg	0	1		UPI00002109E8	0	NA	ENST00000323289		ENSG00000181790	943		34	0		HGNC	p.S948X		BAI1		SNV							ENST00000323289	protein_coding	getma.org/?cm=var&var=hg19,8,143599524,C,A&fts=all		Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF39,Transmembrane_helices:TMhelix		S/*		A	NA	3026/5506		NA						BAI1,stop_gained,p.Ser948Ter,ENST00000517894,;BAI1,stop_gained,p.Ser948Ter,ENST00000323289,NM_001702.2;BAI1,stop_gained,p.Ser948Ter,ENST00000521208,;BAI1,non_coding_transcript_exon_variant,,ENST00000518820,;							HIGH	2843/4755	S948*	BAI1_HUMAN			Transcript			.	ENSP00000313046		CCDS64985.1			1	
OR1S1	0	LGGM	GRCh37	11	57982543	57982543	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091504	H091504N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091504N.bam, H091504T.bam	Illumina HiSeq	61	4	.	.	ENST00000309433.6:c.327C>T	p.Ser109=	p.S109=	ENST00000309433	NM_001004458.1	109	agC/agT	0	1	1	UPI0000041C51	0		ENST00000309433		ENSG00000172774	8227		65			HGNC	p.S109S		OR1S1		SNV							ENST00000309433	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		S		T		327/979							YES	OR1S1,synonymous_variant,p.=,ENST00000309433,NM_001004458.1;							LOW	327/978		OR1S1_HUMAN			Transcript			.	ENSP00000311688		CCDS31546.1			1	
CDX2	0	LGGM	GRCh37	13	28542602	28542602	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	4	2	.	.	ENST00000381020.7:c.541+1G>T		p.X181_splice	ENST00000381020	NM_001265.4			0	1	1	UPI000013E4C8	0		ENST00000381020		ENSG00000165556	1806		6			HGNC	-		CDX2		SNV							ENST00000381020	protein_coding							A		-/4053							YES	CDX2,splice_donor_variant,,ENST00000381020,NM_001265.4;CDX2,upstream_gene_variant,,ENST00000548877,;							HIGH	541/942		CDX2_HUMAN			Transcript			.	ENSP00000370408		CCDS9328.1			1	
EMC9	0	LGGM	GRCh37	14	24610480	24610480	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	12	2	.	.	ENST00000419198.2:c.34G>T	p.Val12Leu	p.V12L	ENST00000419198		12	Gtg/Ttg	0	1		UPI000013C709	0	NA	ENST00000216799		ENSG00000100908	20273		14	1.435		HGNC	p.V12L		EMC9		SNV							ENST00000419198	protein_coding	getma.org/?cm=var&var=hg19,14,24610480,C,A&fts=all		Pfam_domain:PF03665,hmmpanther:PTHR12941:SF12,hmmpanther:PTHR12941		V/L		A	low	197/835		getma.org/?cm=msa&ty=f&p=F158A_HUMAN&rb=1&re=193&var=V12L	deleterious(0.01)					EMC9,missense_variant,p.Val12Leu,ENST00000419198,;EMC9,missense_variant,p.Val12Leu,ENST00000216799,NM_016049.3;EMC9,intron_variant,,ENST00000560403,;PSME2,downstream_gene_variant,,ENST00000216802,NM_002818.2;PSME1,downstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,downstream_gene_variant,,ENST00000559123,;PSME1,downstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_001281528.1,NM_006263.3;PSME1,downstream_gene_variant,,ENST00000561435,;PSME2,downstream_gene_variant,,ENST00000560410,;PSME2,downstream_gene_variant,,ENST00000559056,;RP11-468E2.5,downstream_gene_variant,,ENST00000558478,;EMC9,non_coding_transcript_exon_variant,,ENST00000558200,;PSME2,downstream_gene_variant,,ENST00000471700,;PSME1,downstream_gene_variant,,ENST00000470718,;PSME2,downstream_gene_variant,,ENST00000559613,;EMC9,missense_variant,p.Val12Leu,ENST00000560600,;PSME2,downstream_gene_variant,,ENST00000558931,;PSME2,downstream_gene_variant,,ENST00000559453,;PSME2,downstream_gene_variant,,ENST00000558273,;PSME1,downstream_gene_variant,,ENST00000561059,;PSME1,downstream_gene_variant,,ENST00000560420,;PSME1,downstream_gene_variant,,ENST00000561142,;PSME2,downstream_gene_variant,,ENST00000560788,;PSME1,downstream_gene_variant,,ENST00000559741,;PSME2,downstream_gene_variant,,ENST00000560592,;PSME2,downstream_gene_variant,,ENST00000559493,;PSME1,downstream_gene_variant,,ENST00000558112,;PSME2,downstream_gene_variant,,ENST00000559042,;PSME2,downstream_gene_variant,,ENST00000560370,;EMC9,upstream_gene_variant,,ENST00000558045,;EMC9,upstream_gene_variant,,ENST00000559101,;PSME2,downstream_gene_variant,,ENST00000559005,;PSME2,downstream_gene_variant,,ENST00000559359,;							MODERATE	34/627	V12L	EMC9_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000216799		CCDS9613.1			1	
SLC6A17	0	LGGM	GRCh37	1	110740197	110740197	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	5	2	.	.	ENST00000331565.4:c.1791C>A	p.Gly597=	p.G597=	ENST00000331565	NM_001010898.2	597	ggC/ggA	0	1	1	UPI0000470B3D	0		ENST00000331565		ENSG00000197106	31399		7			HGNC	p.G597G		SLC6A17		SNV			1				ENST00000450985	protein_coding			Superfamily_domains:0053687,Pfam_domain:PF00209,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF102		G		A		2276/6427							YES	SLC6A17,synonymous_variant,p.=,ENST00000331565,NM_001010898.2;SLC6A17,downstream_gene_variant,,ENST00000465159,;							LOW	1791/2184		S6A17_HUMAN			Transcript			.	ENSP00000330199		CCDS30799.1			1	
BMP8B	0	LGGM	GRCh37	1	40230396	40230396	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	9	2	.	.	ENST00000372827.3:c.767C>A	p.Pro256Gln	p.P256Q	ENST00000372827	NM_001720.3	256	cCg/cAg	0	1	1	UPI000013C9D9	0	NA	ENST00000372827		ENSG00000116985	1075		11	0.14		HGNC	p.P281Q		BMP8B		SNV							ENST00000397360	protein_coding	getma.org/?cm=var&var=hg19,1,40230396,G,T&fts=all		Prints_domain:PR00669,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF119		P/Q		T	neutral	1143/4822		getma.org/?cm=msa&ty=f&p=BMP8B_HUMAN&rb=252&re=297&var=P256Q	tolerated(0.41)				YES	BMP8B,missense_variant,p.Pro256Gln,ENST00000372827,NM_001720.3;BMP8B,missense_variant,p.Pro281Gln,ENST00000397360,;OXCT2,downstream_gene_variant,,ENST00000327582,NM_022120.1;PPIE,downstream_gene_variant,,ENST00000372830,NM_001195007.1;PPIE,downstream_gene_variant,,ENST00000356511,NM_203456.2;PPIE,downstream_gene_variant,,ENST00000467741,;							MODERATE	767/1209	P256Q	BMP8B_HUMAN			Transcript		benign(0.007)	.	ENSP00000361915		CCDS444.1			1	
SLC22A8	0	LGGM	GRCh37	11	62762027	62762027	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	4	2	.	.	ENST00000336232.2:c.1203C>A	p.Thr401=	p.T401=	ENST00000336232	NM_001184736.1	401	acC/acA	0	1	1	UPI0000036DF2	0		ENST00000336232		ENSG00000149452	10972		6			HGNC	p.T401T		SLC22A8		SNV							ENST00000311438	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850		T		T		1339/2178							YES	SLC22A8,synonymous_variant,p.=,ENST00000336232,NM_001184736.1,NM_001184732.1,NM_004254.3;SLC22A8,synonymous_variant,p.=,ENST00000430500,;SLC22A8,synonymous_variant,p.=,ENST00000311438,;SLC22A8,synonymous_variant,p.=,ENST00000545207,NM_001184733.1;SLC22A8,synonymous_variant,p.=,ENST00000535878,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000451262,;SLC22A8,downstream_gene_variant,,ENST00000542904,;							LOW	1203/1629		S22A8_HUMAN			Transcript			.	ENSP00000337335		CCDS8042.1			1	
CKM	0	LGGM	GRCh37	19	45818815	45818815	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	4	2	.	.	ENST00000221476.3:c.389G>A	p.Arg130His	p.R130H	ENST00000221476	NM_001824.4	130	cGc/cAc	0	1	1	UPI000012DCC3	0	getma.org/pdb.php?prot=KCRM_HUMAN&from=120&to=367&var=R130H	ENST00000221476		ENSG00000104879	1994	0.000175	6	3.805		HGNC	p.R130H	rs755295582	CKM		SNV							ENST00000221476	protein_coding	getma.org/?cm=var&var=hg19,19,45818815,C,T&fts=all		PROSITE_profiles:PS51510,hmmpanther:PTHR11547,Gene3D:3.30.590.10,Pfam_domain:PF00217,Superfamily_domains:SSF55931		R/H		T	high	564/1657	1.54E-05	getma.org/?cm=msa&ty=f&p=KCRM_HUMAN&rb=120&re=367&var=R130H	deleterious(0.01)				YES	CKM,missense_variant,p.Arg130His,ENST00000221476,NM_001824.4;							MODERATE	389/1146	R130H	KCRM_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000221476	2.47E-05	CCDS12659.1			1	
SURF1	0	LGGM	GRCh37	9	136219608	136219608	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	3	2	.	.	ENST00000371974.3:c.529G>T	p.Val177Leu	p.V177L	ENST00000371974	NM_001280787.1	177	Gta/Tta	0	1	1	UPI000013622E	0	NA	ENST00000371974		ENSG00000148290	11474		5	3.02		HGNC	p.V177L		SURF1		SNV			1				ENST00000371974	protein_coding	getma.org/?cm=var&var=hg19,9,136219608,C,A&fts=all		Pfam_domain:PF02104,PROSITE_profiles:PS50895,hmmpanther:PTHR23427,hmmpanther:PTHR23427:SF2		V/L		A	medium	561/1093		getma.org/?cm=msa&ty=f&p=SURF1_HUMAN&rb=66&re=284&var=V177L	deleterious(0)	E5KRX5_HUMAN,Q9UE08_HUMAN			YES	SURF1,missense_variant,p.Val177Leu,ENST00000371974,NM_001280787.1,NM_003172.3;MED22,upstream_gene_variant,,ENST00000476080,;MED22,upstream_gene_variant,,ENST00000344469,NM_181491.2;MED22,upstream_gene_variant,,ENST00000343730,NM_133640.4;RPL7A,downstream_gene_variant,,ENST00000426651,;MED22,upstream_gene_variant,,ENST00000371999,;RPL7A,downstream_gene_variant,,ENST00000323345,NM_000972.2;SURF2,upstream_gene_variant,,ENST00000371964,NM_001278928.1,NM_017503.4;RPL7A,downstream_gene_variant,,ENST00000315731,;MED22,upstream_gene_variant,,ENST00000457204,;MED22,upstream_gene_variant,,ENST00000446777,;MED22,upstream_gene_variant,,ENST00000494177,;SNORD24,downstream_gene_variant,,ENST00000383884,NR_002447.1;SNORD36B,downstream_gene_variant,,ENST00000363961,NR_000017.1;SNORD36A,downstream_gene_variant,,ENST00000362874,NR_002448.1;SNORD36C,downstream_gene_variant,,ENST00000516733,NR_000016.1;SURF1,non_coding_transcript_exon_variant,,ENST00000495952,;RPL7A,downstream_gene_variant,,ENST00000463740,;RPL7A,downstream_gene_variant,,ENST00000489392,;RPL7A,downstream_gene_variant,,ENST00000496554,;RPL7A,downstream_gene_variant,,ENST00000468019,;MED22,upstream_gene_variant,,ENST00000471524,;RPL7A,downstream_gene_variant,,ENST00000485706,;SURF2,upstream_gene_variant,,ENST00000495524,;SURF1,downstream_gene_variant,,ENST00000463965,;RPL7A,downstream_gene_variant,,ENST00000492798,;SURF2,upstream_gene_variant,,ENST00000486887,;SURF1,intron_variant,,ENST00000437995,;MED22,upstream_gene_variant,,ENST00000482295,;							MODERATE	529/903	V177L	SURF1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000361042		CCDS6966.1			1	
NCAPG2	0	LGGM	GRCh37	7	158480074	158480074	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	16	2	.	.	ENST00000409423.1:c.733G>A	p.Gly245Arg	p.G245R	ENST00000409423	NM_001281932.1	245	Ggg/Agg	0	1		UPI000000DA46	0	NA	ENST00000356309		ENSG00000146918	21904		18	1.445		HGNC	p.G245R		NCAPG2		SNV							ENST00000409339	protein_coding	getma.org/?cm=var&var=hg19,7,158480074,C,T&fts=all		hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4,Pfam_domain:PF12422		G/R		T	low	878/3930		getma.org/?cm=msa&ty=f&p=CNDG2_HUMAN&rb=210&re=363&var=G245R	tolerated(0.08)					NCAPG2,missense_variant,p.Gly245Arg,ENST00000409339,NM_001281933.1;NCAPG2,missense_variant,p.Gly245Arg,ENST00000409423,NM_001281932.1;NCAPG2,missense_variant,p.Gly245Arg,ENST00000356309,NM_017760.5;NCAPG2,missense_variant,p.Gly245Arg,ENST00000449727,;NCAPG2,missense_variant,p.Gly47Arg,ENST00000441982,;NCAPG2,missense_variant,p.Gly37Arg,ENST00000275830,;NCAPG2,missense_variant,p.Gly245Arg,ENST00000432615,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000467785,;							MODERATE	733/3432	G245R	CNDG2_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000348657		CCDS43686.1			1	
SYK	0	LGGM	GRCh37	9	93650897	93650897	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	2	2	.	.	ENST00000375746.1:c.1823G>T	p.Cys608Phe	p.C608F	ENST00000375746	NM_001174167.1	608	tGc/tTc	0	1		UPI000012E0DD	0	getma.org/pdb.php?prot=KSYK_HUMAN&from=371&to=626&var=C608F	ENST00000375746		ENSG00000165025	11491		4	3.845		HGNC	p.C585F		SYK		SNV							ENST00000375747	protein_coding	getma.org/?cm=var&var=hg19,9,93650897,G,T&fts=all		Prints_domain:PR00109,Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000604,SMART_domains:SM00219,Pfam_domain:PF07714,Gene3D:1.10.510.10,hmmpanther:PTHR24418:SF79,hmmpanther:PTHR24418,PROSITE_profiles:PS50011		C/F		T	high	1956/4990		getma.org/?cm=msa&ty=f&p=KSYK_HUMAN&rb=371&re=626&var=C608F	deleterious(0)					SYK,missense_variant,p.Cys608Phe,ENST00000375754,NM_003177.5;SYK,missense_variant,p.Cys608Phe,ENST00000375746,NM_001174167.1;SYK,missense_variant,p.Cys585Phe,ENST00000375751,NM_001135052.2;SYK,missense_variant,p.Cys585Phe,ENST00000375747,NM_001174168.1;							MODERATE	1823/1908	C608F	KSYK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364898		CCDS6688.1			1	
SCAPER	0	LGGM	GRCh37	15	76673718	76673718	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	27	3	.	.	ENST00000563290.1:c.3705+1G>T		p.X1235_splice	ENST00000563290				0	1		UPI0000E59CC3	0		ENST00000324767		ENSG00000140386	13081		30			HGNC	-		SCAPER		SNV							ENST00000563290	protein_coding							A		-/4707				H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN				SCAPER,splice_donor_variant,,ENST00000538941,NM_001145923.1;SCAPER,splice_donor_variant,,ENST00000563290,;SCAPER,splice_donor_variant,,ENST00000324767,NM_020843.2;SCAPER,downstream_gene_variant,,ENST00000567601,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;							HIGH	3705/4203		SCAPE_HUMAN			Transcript			.	ENSP00000326924		CCDS53962.1			1	
CCNDBP1	0	LGGM	GRCh37	15	43482596	43482596	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	14	3	.	.	ENST00000300213.4:c.502G>T	p.Asp168Tyr	p.D168Y	ENST00000300213	NM_012142.4	168	Gat/Tat	0	1	1	UPI00000703E1	0	getma.org/pdb.php?prot=CCDB1_HUMAN&from=53&to=322&var=D168Y	ENST00000300213		ENSG00000166946	1587		17	2.36		HGNC	p.D168Y		CCNDBP1		SNV							ENST00000566515	protein_coding	getma.org/?cm=var&var=hg19,15,43482596,G,T&fts=all		hmmpanther:PTHR15492:SF1,hmmpanther:PTHR15492,Pfam_domain:PF13324		D/Y		T	medium	744/1682		getma.org/?cm=msa&ty=f&p=CCDB1_HUMAN&rb=53&re=322&var=D168Y	deleterious(0)	B4DHB5_HUMAN			YES	CCNDBP1,missense_variant,p.Asp168Tyr,ENST00000300213,NM_012142.4;CCNDBP1,missense_variant,p.Asp7Tyr,ENST00000356633,;EPB42,downstream_gene_variant,,ENST00000300215,;EPB42,intron_variant,,ENST00000563128,;CCNDBP1,missense_variant,p.Asp168Tyr,ENST00000565296,;CCNDBP1,missense_variant,p.Asp168Tyr,ENST00000566515,;CCNDBP1,missense_variant,p.Glu135Asp,ENST00000568507,;CCNDBP1,splice_region_variant,,ENST00000566882,;CCNDBP1,splice_region_variant,,ENST00000568936,;CCNDBP1,splice_region_variant,,ENST00000564630,;CCNDBP1,splice_region_variant,,ENST00000444658,;CCNDBP1,splice_region_variant,,ENST00000563065,;CCNDBP1,splice_region_variant,,ENST00000569745,;CCNDBP1,splice_region_variant,,ENST00000567690,;CCNDBP1,splice_region_variant,,ENST00000562553,;CCNDBP1,splice_region_variant,,ENST00000567434,;CCNDBP1,upstream_gene_variant,,ENST00000565958,;CCNDBP1,downstream_gene_variant,,ENST00000566833,;							MODERATE	502/1083	D168Y	CCDB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000300213		CCDS10092.1			1	
XKR4	0	LGGM	GRCh37	8	56015592	56015592	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	9	3	.	.	ENST00000327381.6:c.544G>A	p.Ala182Thr	p.A182T	ENST00000327381	NM_052898.1	182	Gcc/Acc	0	1	1	UPI000016098C	0	NA	ENST00000327381		ENSG00000206579	29394		12	0.345		HGNC	p.A182T		XKR4		SNV							ENST00000327381	protein_coding	getma.org/?cm=var&var=hg19,8,56015592,G,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF09815,hmmpanther:PTHR32129:SF14,hmmpanther:PTHR32129		A/T		A	neutral	644/19880		getma.org/?cm=msa&ty=f&p=XKR4_HUMAN&rb=111&re=516&var=A182T	tolerated(0.29)				YES	XKR4,missense_variant,p.Ala182Thr,ENST00000327381,NM_052898.1;							MODERATE	544/1953	A182T	XKR4_HUMAN			Transcript		benign(0.005)	.	ENSP00000328326		CCDS34893.1			1	
BIRC6	0	LGGM	GRCh37	2	32750042	32750042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	48	3	.	.	ENST00000421745.2:c.11711C>A	p.Ala3904Glu	p.A3904E	ENST00000421745	NM_016252.3	3904	gCg/gAg	0	1	1	UPI0001611442	0	NA	ENST00000421745		ENSG00000115760	13516		51	0.805		HGNC	p.A3904E		BIRC6		SNV							ENST00000421745	protein_coding	getma.org/?cm=var&var=hg19,2,32750042,C,A&fts=all		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93,Low_complexity_(Seg):seg		A/E		A	low	11845/15703		getma.org/?cm=msa&ty=f&p=BIRC6_HUMAN&rb=3819&re=4018&var=A3904E					YES	BIRC6,missense_variant,p.Ala3904Glu,ENST00000421745,NM_016252.3;BIRC6,non_coding_transcript_exon_variant,,ENST00000471232,;							MODERATE	11711/14574	A3904E	BIRC6_HUMAN			Transcript		benign(0.325)	.	ENSP00000393596		CCDS33175.2			1	
CLCNKA	0	LGGM	GRCh37	1	16357067	16357067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	23	3	.	.	ENST00000331433.4:c.1520C>A	p.Ala507Glu	p.A507E	ENST00000331433		507	gCa/gAa	0	1	1	UPI0000127993	0	getma.org/pdb.php?prot=CLCKA_HUMAN&from=102&to=514&var=A507E	ENST00000331433		ENSG00000186510	2026		26	1.965		HGNC	p.A507E		CLCNKA		SNV			1				ENST00000331433	protein_coding	getma.org/?cm=var&var=hg19,1,16357067,C,A&fts=all		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix		A/E		A	medium	1539/2475		getma.org/?cm=msa&ty=f&p=CLCKA_HUMAN&rb=102&re=514&var=A507E	deleterious(0)				YES	CLCNKA,missense_variant,p.Ala507Glu,ENST00000375692,;CLCNKA,missense_variant,p.Ala507Glu,ENST00000420078,NM_004070.3,NM_001042704.1,NM_001257139.1;CLCNKA,missense_variant,p.Ala507Glu,ENST00000331433,;CLCNKA,missense_variant,p.Ala464Glu,ENST00000439316,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,downstream_gene_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;RP11-5P18.10,downstream_gene_variant,,ENST00000447882,;							MODERATE	1520/2064	A507E	CLCKA_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000332771		CCDS167.1			1	
OPTC	0	LGGM	GRCh37	1	203465179	203465179	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	21	3	.	.	ENST00000367222.2:c.46G>T	p.Glu16Ter	p.E16*	ENST00000367222	NM_014359.3	16	Gag/Tag	0	1	1	UPI00000015D9	0	NA	ENST00000367222		ENSG00000188770	8158		24	0		HGNC	p.E16X		OPTC		SNV							ENST00000448911	protein_coding	getma.org/?cm=var&var=hg19,1,203465179,G,T&fts=all		hmmpanther:PTHR24370,Cleavage_site_(Signalp):SignalP-noTM		E/*		T	NA	162/1359		NA					YES	OPTC,stop_gained,p.Glu16Ter,ENST00000367222,NM_014359.3;OPTC,stop_gained,p.Glu16Ter,ENST00000448911,;PRELP,downstream_gene_variant,,ENST00000343110,NM_201348.1,NM_002725.3;							HIGH	46/999	E16*	OPT_HUMAN			Transcript			.	ENSP00000356191		CCDS1439.1			1	
NIT1	0	LGGM	GRCh37	1	161090410	161090410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	47	3	.	.	ENST00000368009.2:c.839C>A	p.Thr280Lys	p.T280K	ENST00000368009	NM_005600.2	280	aCa/aAa	0	1	1	UPI00000715F9	0	getma.org/pdb.php?prot=NIT1_HUMAN&from=47&to=320&var=T280K	ENST00000368009		ENSG00000158793	7828		50	0.845		HGNC	p.T244K		NIT1		SNV							ENST00000392190	protein_coding	getma.org/?cm=var&var=hg19,1,161090410,C,A&fts=all		Gene3D:3.60.110.10,PROSITE_profiles:PS50263,hmmpanther:PTHR23088,hmmpanther:PTHR23088:SF5,Superfamily_domains:SSF56317		T/K		A	low	915/1362		getma.org/?cm=msa&ty=f&p=NIT1_HUMAN&rb=47&re=320&var=T280K	tolerated(0.51)				YES	NIT1,missense_variant,p.Thr265Lys,ENST00000368007,NM_001185093.1;NIT1,missense_variant,p.Thr244Lys,ENST00000392190,NM_001185094.1;NIT1,missense_variant,p.Thr280Lys,ENST00000368009,NM_005600.2;NIT1,intron_variant,,ENST00000368008,NM_001185092.1;DEDD,downstream_gene_variant,,ENST00000392188,;DEDD,downstream_gene_variant,,ENST00000368006,NM_032998.2;DEDD,downstream_gene_variant,,ENST00000545495,NM_001039711.1;DEDD,downstream_gene_variant,,ENST00000458050,NM_001039712.1;DEDD,downstream_gene_variant,,ENST00000490843,;DEDD,downstream_gene_variant,,ENST00000368005,;DEDD,downstream_gene_variant,,ENST00000464113,;PFDN2,upstream_gene_variant,,ENST00000368010,NM_012394.3;NIT1,non_coding_transcript_exon_variant,,ENST00000485594,;NIT1,downstream_gene_variant,,ENST00000496861,;DEDD,downstream_gene_variant,,ENST00000489249,;NIT1,downstream_gene_variant,,ENST00000491497,;DEDD,downstream_gene_variant,,ENST00000486041,;DEDD,downstream_gene_variant,,ENST00000463227,;DEDD,downstream_gene_variant,,ENST00000496632,;DEDD,downstream_gene_variant,,ENST00000473679,;NIT1,downstream_gene_variant,,ENST00000492411,;NIT1,downstream_gene_variant,,ENST00000496768,;NIT1,downstream_gene_variant,,ENST00000461376,;NIT1,upstream_gene_variant,,ENST00000479728,;NIT1,downstream_gene_variant,,ENST00000479266,;NIT1,downstream_gene_variant,,ENST00000486962,;NIT1,downstream_gene_variant,,ENST00000477684,;PFDN2,upstream_gene_variant,,ENST00000468311,;NIT1,downstream_gene_variant,,ENST00000478277,;DEDD,downstream_gene_variant,,ENST00000472996,;NIT1,downstream_gene_variant,,ENST00000473918,;							MODERATE	839/984	T280K	NIT1_HUMAN			Transcript		benign(0.004)	.	ENSP00000356988		CCDS1218.1			1	
RP11-429E11.3	0	LGGM	GRCh37	20	60293825	60293825	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	22	3	.	.	ENST00000317652.1:c.402G>T	p.Gln134His	p.Q134H	ENST00000317652		134	caG/caT	0	1	1	UPI00001400F7	0		ENST00000317652		ENSG00000179253			25			Clone_based_vega_gene	p.Q134H		RP11-429E11.3		SNV							ENST00000317652	protein_coding					Q/H		A		737/2000				Q5VZ43_HUMAN			YES	RP11-429E11.3,missense_variant,p.Gln134His,ENST00000317652,;CDH4,intron_variant,,ENST00000360469,NM_001794.3;CDH4,intron_variant,,ENST00000543233,NM_001252339.1,NM_001252338.1;							MODERATE	402/423					Transcript		benign(0.398)	.	ENSP00000315214					1	
USP29	0	LGGM	GRCh37	19	57640163	57640163	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	31	3	.	.	ENST00000254181.4:c.120C>A	p.Val40=	p.V40=	ENST00000254181	NM_020903.2	40	gtC/gtA	0	1	1	UPI0000137A01	0		ENST00000254181		ENSG00000131864	18563		34			HGNC	p.V40V		USP29		SNV							ENST00000598197	protein_coding			hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006		V		A		574/3705				M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,synonymous_variant,p.=,ENST00000254181,NM_020903.2;USP29,synonymous_variant,p.=,ENST00000598197,;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;							LOW	120/2769		UBP29_HUMAN			Transcript			.	ENSP00000254181		CCDS33124.1			1	
TLE6	0	LGGM	GRCh37	19	2993490	2993490	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	24	3	.	.	ENST00000246112.4:c.1447C>G	p.Gln483Glu	p.Q483E	ENST00000246112	NM_001143986.1	483	Cag/Gag	0	1	1	UPI000059D62B	0	getma.org/pdb.php?prot=TLE6_HUMAN&from=337&to=449&var=Q360E	ENST00000246112		ENSG00000104953	30788		27	2.24		HGNC	p.Q483E		TLE6		SNV							ENST00000246112	protein_coding	getma.org/?cm=var&var=hg19,19,2993490,C,G&fts=all		hmmpanther:PTHR10814,hmmpanther:PTHR10814:SF2,Gene3D:2.130.10.10,Superfamily_domains:SSF50978,Prints_domain:PR01850		Q/E		G	medium	1648/2095		getma.org/?cm=msa&ty=f&p=TLE6_HUMAN&rb=337&re=449&var=Q360E	deleterious(0.05)	K7ENW8_HUMAN,C9J532_HUMAN			YES	TLE6,missense_variant,p.Gln483Glu,ENST00000246112,NM_001143986.1;TLE6,missense_variant,p.Gln360Glu,ENST00000452088,NM_024760.2;TLE2,downstream_gene_variant,,ENST00000262953,NM_003260.4;TLE2,downstream_gene_variant,,ENST00000447365,;TLE2,downstream_gene_variant,,ENST00000591529,NM_001144761.1;TLE2,downstream_gene_variant,,ENST00000590536,;TLE2,downstream_gene_variant,,ENST00000455444,;TLE2,downstream_gene_variant,,ENST00000443826,NM_001144762.1;TLE2,downstream_gene_variant,,ENST00000426948,;TLE2,downstream_gene_variant,,ENST00000586422,;TLE6,downstream_gene_variant,,ENST00000478073,;TLE6,non_coding_transcript_exon_variant,,ENST00000497878,;TLE6,downstream_gene_variant,,ENST00000469572,;							MODERATE	1447/1719	Q360E	TLE6_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000246112		CCDS45910.1			1	
CDH3	0	LGGM	GRCh37	16	68716324	68716324	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	7	3	.	.	ENST00000264012.4:c.1116C>T	p.Asp372=	p.D372=	ENST00000264012	NM_001793.4	372	gaC/gaT	0	1	1	UPI0000161BFF	0		ENST00000264012		ENSG00000062038	1762		10			HGNC	p.D372D	rs139565232,COSM79628	CDH3	6.06E-05	SNV	T:0.0007		1	0.000289		0,1	ENST00000429102	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF267,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		D	T:0	T		1660/3702	1.50E-05			J3KTE9_HUMAN			YES	CDH3,synonymous_variant,p.=,ENST00000264012,NM_001793.4;CDH3,synonymous_variant,p.=,ENST00000429102,;CDH3,synonymous_variant,p.=,ENST00000581171,;CDH3,3_prime_UTR_variant,,ENST00000542274,;CDH3,downstream_gene_variant,,ENST00000566808,;CDH3,downstream_gene_variant,,ENST00000569036,;HSPE1P5,upstream_gene_variant,,ENST00000561489,;					0,1		LOW	1116/2490		CADH3_HUMAN			Transcript			.	ENSP00000264012	4.12E-05	CCDS10868.1			1	
LCE3E	0	LGGM	GRCh37	1	152538609	152538609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	92	4	.	.	ENST00000368789.1:c.76C>A	p.Pro26Thr	p.P26T	ENST00000368789	NM_178435.3	26	Cca/Aca	0	1	1	UPI00001927D0	0		ENST00000368789		ENSG00000185966	29463		96			HGNC	p.P26T		LCE3E		SNV							ENST00000368789	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263:SF43,hmmpanther:PTHR23263,Pfam_domain:PF14672		P/T		T		132/611			tolerated_low_confidence(0.14)				YES	LCE3E,missense_variant,p.Pro26Thr,ENST00000368789,NM_178435.3;							MODERATE	76/279		LCE3E_HUMAN			Transcript		unknown(0)	.	ENSP00000357778		CCDS1013.1			1	
SPEN	0	LGGM	GRCh37	1	16237703	16237703	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	16	4	.	.	ENST00000375759.3:c.1150C>A	p.Arg384=	p.R384=	ENST00000375759	NM_015001.2	384	Cgg/Agg	0	1	1	UPI000006FF0C	0		ENST00000375759		ENSG00000065526	17575		20			HGNC	p.R384R		SPEN		SNV							ENST00000375759	protein_coding			PROSITE_profiles:PS50102,hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		R		A		1354/12232							YES	SPEN,synonymous_variant,p.=,ENST00000375759,NM_015001.2;SPEN,synonymous_variant,p.=,ENST00000438066,;SPEN,synonymous_variant,p.=,ENST00000442985,;snoU13,downstream_gene_variant,,ENST00000459258,;							LOW	1150/10995		MINT_HUMAN			Transcript			.	ENSP00000364912		CCDS164.1			1	
UNC13C	0	LGGM	GRCh37	15	54590102	54590102	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	26	4	.	.	ENST00000260323.11:c.4082T>G	p.Ile1361Ser	p.I1361S	ENST00000260323	NM_001080534.1	1361	aTt/aGt	0	1	1	UPI0000DD82AB	0	NA	ENST00000260323		ENSG00000137766	23149		30	0.69		HGNC	p.I1359S		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54590102,T,G&fts=all		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2,Superfamily_domains:SSF49562		I/S		G	neutral	4082/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1314&re=1513&var=I1361S	deleterious_low_confidence(0.03)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Ile1361Ser,ENST00000545554,;UNC13C,missense_variant,p.Ile1359Ser,ENST00000537900,;UNC13C,missense_variant,p.Ile1361Ser,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;							MODERATE	4082/6645	I1361S	UN13C_HUMAN			Transcript		benign(0.029)	.	ENSP00000260323		CCDS45264.1			1	
GPRIN1	0	LGGM	GRCh37	5	176023814	176023814	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	4	4	.	.	ENST00000303991.4:c.3022G>T	p.Glu1008Ter	p.E1008*	ENST00000303991	NM_052899.2	1008	Gag/Tag	0	1	1	UPI0000246D49	0	NA	ENST00000303991		ENSG00000169258	24835		8	0		HGNC	p.E1008X		GPRIN1		SNV							ENST00000303991	protein_coding	getma.org/?cm=var&var=hg19,5,176023814,C,A&fts=all		hmmpanther:PTHR12239,hmmpanther:PTHR12239:SF30,Pfam_domain:PF15235		E/*		A	NA	3200/4211		NA					YES	GPRIN1,stop_gained,p.Glu1008Ter,ENST00000303991,NM_052899.2;CDHR2,downstream_gene_variant,,ENST00000510636,NM_001171976.1;CDHR2,downstream_gene_variant,,ENST00000261944,NM_017675.4;CDHR2,downstream_gene_variant,,ENST00000506348,;							HIGH	3022/3027	E1008*	GRIN1_HUMAN			Transcript			.	ENSP00000305839		CCDS4405.1			1	
ERG	0	LGGM	GRCh37	21	39817414	39817414	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	13	5	.	.	ENST00000288319.7:c.149G>A	p.Arg50His	p.R50H	ENST00000288319	NM_182918.3	50	cGc/cAc	0	1		UPI000018681C	0	NA	ENST00000398919		ENSG00000157554	3446		18	1.04		HGNC	p.R50H	rs542019196,COSM1030639	ERG		SNV			1	9.61E-05		0,1	ENST00000288319	protein_coding	getma.org/?cm=var&var=hg19,21,39817414,C,T&fts=all	T:0.0008	hmmpanther:PTHR11849:SF161,hmmpanther:PTHR11849		R/H		T	low	465/1868	3.00E-05	getma.org/?cm=msa&ty=f&p=ERG_HUMAN&rb=1&re=121&var=R57H	tolerated(0.55)	Q16031_HUMAN,B4DVX5_HUMAN	T:0	T:0		ERG,missense_variant,p.Arg57His,ENST00000442448,NM_004449.4;ERG,missense_variant,p.Arg57His,ENST00000417133,NM_001136154.1,NM_001243432.1;ERG,missense_variant,p.Arg57His,ENST00000398910,;ERG,missense_variant,p.Arg50His,ENST00000288319,NM_182918.3;ERG,missense_variant,p.Arg57His,ENST00000398911,;ERG,missense_variant,p.Arg50His,ENST00000398907,;ERG,missense_variant,p.Arg50His,ENST00000398905,;ERG,missense_variant,p.Arg57His,ENST00000398919,NM_001243428.1;ERG,missense_variant,p.Arg50His,ENST00000429727,;ERG,intron_variant,,ENST00000398897,NM_001243429.1;ERG,intron_variant,,ENST00000453032,NM_001136155.1;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,;		T:0.0002			0,1		MODERATE	170/1461	R57H	ERG_HUMAN		T:0	Transcript		benign(0.01)	.	ENSP00000381891	2.47E-05	CCDS46648.1		T:0	1	
LRRC28	0	LGGM	GRCh37	15	99874136	99874136	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	22	5	.	.	ENST00000301981.3:c.394G>A	p.Asp132Asn	p.D132N	ENST00000301981	NM_144598.2	132	Gat/Aat	0	1	1	UPI000000DBCB	0	NA	ENST00000301981		ENSG00000168904	28355		27	-1.26		HGNC	p.D132N	rs771749227	LRRC28		SNV							ENST00000301981	protein_coding	getma.org/?cm=var&var=hg19,15,99874136,G,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF433,SMART_domains:SM00369,Superfamily_domains:SSF52058		D/N		A	neutral	634/5971	3.01E-05	getma.org/?cm=msa&ty=f&p=LRC28_HUMAN&rb=111&re=169&var=D132N	tolerated(0.3)	Q8NB41_HUMAN,H0YNW4_HUMAN,H0YKF6_HUMAN,B4DK22_HUMAN			YES	LRRC28,missense_variant,p.Asp132Asn,ENST00000301981,NM_144598.2;LRRC28,missense_variant,p.Asp132Asn,ENST00000447360,NM_001284400.1;LRRC28,missense_variant,p.Asp87Asn,ENST00000561276,;LRRC28,missense_variant,p.Asp132Asn,ENST00000558861,;LRRC28,intron_variant,,ENST00000422500,;LRRC28,intron_variant,,ENST00000442993,;LRRC28,intron_variant,,ENST00000331450,;LRRC28,intron_variant,,ENST00000558172,;LRRC28,intron_variant,,ENST00000558879,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559399,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559774,;LRRC28,intron_variant,,ENST00000558771,;LRRC28,upstream_gene_variant,,ENST00000558911,;LRRC28,synonymous_variant,p.=,ENST00000558471,;LRRC28,3_prime_UTR_variant,,ENST00000559433,;LRRC28,3_prime_UTR_variant,,ENST00000561253,;LRRC28,non_coding_transcript_exon_variant,,ENST00000559819,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558890,;LRRC28,non_coding_transcript_exon_variant,,ENST00000558248,;RP11-616M17.1,upstream_gene_variant,,ENST00000558361,;							MODERATE	394/1104	D132N	LRC28_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000304923	1.65E-05	CCDS10380.1			1	
AXIN1	0	LGGM	GRCh37	16	339485	339485	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	8	5	.	.	ENST00000262320.3:c.2417C>T	p.Thr806Ile	p.T806I	ENST00000262320	NM_003502.3	806	aCc/aTc	0	1	1	UPI000012669E	0	getma.org/pdb.php?prot=AXIN1_HUMAN&from=780&to=862&var=T806I	ENST00000262320		ENSG00000103126	903		13	3.155		HGNC	p.T806I		AXIN1		SNV			1				ENST00000262320	protein_coding	getma.org/?cm=var&var=hg19,16,339485,G,A&fts=all		PROSITE_profiles:PS50841,Pfam_domain:PF00778,SMART_domains:SM00021,Superfamily_domains:SSF54236		T/I		A	medium	2789/3643		getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=780&re=862&var=T806I	deleterious(0)				YES	AXIN1,missense_variant,p.Thr806Ile,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Thr770Ile,ENST00000354866,NM_181050.2;AXIN1,missense_variant,p.Thr58Ile,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,;							MODERATE	2417/2589	T806I	AXIN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262320		CCDS10405.1			1	
KCNH4	0	LGGM	GRCh37	17	40318401	40318401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	0	5	.	.	ENST00000264661.3:c.1754G>A	p.Arg585His	p.R585H	ENST00000264661	NM_012285.2	585	cGc/cAc	0	1	1	UPI000012DCA8	0	getma.org/pdb.php?prot=KCNH4_HUMAN&from=574&to=671&var=R585H	ENST00000264661		ENSG00000089558	6253		5	0.22		HGNC	p.R585H	rs755800187	KCNH4		SNV							ENST00000264661	protein_coding	getma.org/?cm=var&var=hg19,17,40318401,C,T&fts=all		PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378,Gene3D:2.60.120.10,SMART_domains:SM00100,Superfamily_domains:SSF51206,Prints_domain:PR01465		R/H		T	neutral	2087/3920	1.56E-05	getma.org/?cm=msa&ty=f&p=KCNH4_HUMAN&rb=574&re=671&var=R585H	tolerated(0.4)				YES	KCNH4,missense_variant,p.Arg585His,ENST00000264661,NM_012285.2;KCNH4,missense_variant,p.Arg585His,ENST00000607371,;							MODERATE	1754/3054	R585H	KCNH4_HUMAN			Transcript		benign(0.044)	.	ENSP00000264661	8.24E-06	CCDS11420.1			1	
PRH2	0	LGGM	GRCh37	12	11083466	11083466	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	24	5	.	.	ENST00000396400.3:c.306T>C	p.Pro102=	p.P102=	ENST00000396400	NM_001110213.1	102	ccT/ccC	0	1		UPI000013CF3F	0		ENST00000381847		ENSG00000134551	9367		29			HGNC	p.P102P		PRH2		SNV							ENST00000396400	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23203,Pfam_domain:PF15240		P		C		344/641								PRH2,synonymous_variant,p.=,ENST00000396400,NM_001110213.1;PRH2,synonymous_variant,p.=,ENST00000381847,NM_005042.4;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000546317,;							LOW	306/501		PRPC_HUMAN			Transcript			.	ENSP00000371271		CCDS8636.1			1	
SORCS3	0	LGGM	GRCh37	10	106849549	106849549	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	10	6	.	.	ENST00000369701.3:c.1045G>A	p.Asp349Asn	p.D349N	ENST00000369701	NM_014978.1	349	Gat/Aat	0	1	1	UPI0000135CE1	0	getma.org/pdb.php?prot=SORC3_HUMAN&from=280&to=479&var=D349N	ENST00000369701		ENSG00000156395	16699		16	1.75		HGNC	p.D349N		SORCS3		SNV							ENST00000369701	protein_coding	getma.org/?cm=var&var=hg19,10,106849549,G,A&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602		D/N		A	low	1272/5757		getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=280&re=479&var=D349N	tolerated(0.1)	B7Z891_HUMAN			YES	SORCS3,missense_variant,p.Asp349Asn,ENST00000369701,NM_014978.1;							MODERATE	1045/3669	D349N	SORC3_HUMAN			Transcript		benign(0.094)	.	ENSP00000358715		CCDS7558.1			1	
GLRB	0	LGGM	GRCh37	4	158058014	158058014	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	15	6	.	.	ENST00000264428.4:c.586C>T	p.Arg196Cys	p.R196C	ENST00000264428	NM_000824.4	196	Cgt/Tgt	0	1	1	UPI000000161E	0	getma.org/pdb.php?prot=GLRB_HUMAN&from=56&to=266&var=R196C	ENST00000264428		ENSG00000109738	4329		21	0.875		HGNC	p.R196C		GLRB		SNV			1				ENST00000541722	protein_coding	getma.org/?cm=var&var=hg19,4,158058014,C,T&fts=all		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,PROSITE_patterns:PS00236,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF29,TIGRFAM_domain:TIGR00860		R/C		T	low	856/3126		getma.org/?cm=msa&ty=f&p=GLRB_HUMAN&rb=56&re=266&var=R196C	tolerated(0.07)				YES	GLRB,missense_variant,p.Arg196Cys,ENST00000264428,NM_000824.4;GLRB,missense_variant,p.Arg196Cys,ENST00000541722,NM_001166061.1;GLRB,missense_variant,p.Arg196Cys,ENST00000509282,NM_001166060.1;GLRB,intron_variant,,ENST00000512619,;GLRB,3_prime_UTR_variant,,ENST00000506411,;GLRB,non_coding_transcript_exon_variant,,ENST00000510970,;GLRB,downstream_gene_variant,,ENST00000515642,;							MODERATE	586/1494	R196C	GLRB_HUMAN			Transcript		benign(0.003)	.	ENSP00000264428		CCDS3796.1			1	
SH3RF1	0	LGGM	GRCh37	4	170043250	170043250	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	8	7	.	.	ENST00000284637.9:c.1346+1G>T		p.X449_splice	ENST00000284637	NM_020870.3			0	1	1	UPI0000160033	0		ENST00000284637		ENSG00000154447	17650		15			HGNC	-		SH3RF1		SNV							ENST00000284637	protein_coding							A		-/5272				D6RHX5_HUMAN,D6RAL3_HUMAN			YES	SH3RF1,splice_donor_variant,,ENST00000284637,NM_020870.3;SH3RF1,splice_donor_variant,,ENST00000508685,;SH3RF1,splice_donor_variant,,ENST00000511421,;							HIGH	1346/2667		SH3R1_HUMAN			Transcript			.	ENSP00000284637		CCDS34099.1			1	
COL3A1	0	LGGM	GRCh37	2	189873681	189873681	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	29	7	.	.	ENST00000304636.3:c.3557C>G	p.Pro1186Arg	p.P1186R	ENST00000304636	NM_000090.3	1186	cCt/cGt	0	1	1	UPI0000456EBA	0	NA	ENST00000304636		ENSG00000168542	2201		36	2.555		HGNC	p.P1186R		COL3A1		SNV			1				ENST00000304636	protein_coding	getma.org/?cm=var&var=hg19,2,189873681,C,G&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415		P/R		G	medium	3727/5543		getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=1137&re=1196&var=P1186R		Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,missense_variant,p.Pro1186Arg,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Pro883Arg,ENST00000317840,;COL3A1,non_coding_transcript_exon_variant,,ENST00000487010,;							MODERATE	3557/4401	P1186R	CO3A1_HUMAN			Transcript		unknown(0)	.	ENSP00000304408		CCDS2297.1			1	
MATK	0	LGGM	GRCh37	19	3785129	3785129	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	23	7	.	.	ENST00000395045.2:c.76-247C>A		*26*	ENST00000395045	NM_002378.3			0	1		UPI0000000C50	0	NA	ENST00000310132		ENSG00000007264	6906		30	0.55		HGNC	p.A2E		MATK		SNV							ENST00000585778	protein_coding	getma.org/?cm=var&var=hg19,19,3785129,G,T&fts=all				A/E		T	neutral	404/2133		getma.org/?cm=msa&ty=f&p=MATK_HUMAN&rb=1&re=58&var=A2E	deleterious_low_confidence(0)	K7ERY4_HUMAN,K7EQV3_HUMAN,K7ENL8_HUMAN,F1T0G6_HUMAN				MATK,missense_variant,p.Ala2Glu,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Ala2Glu,ENST00000585778,;MATK,missense_variant,p.Ala2Glu,ENST00000590028,;MATK,missense_variant,p.Ala2Glu,ENST00000591059,;MATK,intron_variant,,ENST00000395045,NM_002378.3;MATK,intron_variant,,ENST00000395040,NM_139354.2;MATK,intron_variant,,ENST00000590849,;MATK,upstream_gene_variant,,ENST00000590493,;MATK,upstream_gene_variant,,ENST00000587180,;MATK,upstream_gene_variant,,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590980,;MATK,downstream_gene_variant,,ENST00000590821,;							MODERATE	5/1524	A2E	MATK_HUMAN			Transcript		benign(0.43)	.	ENSP00000308734		CCDS12114.1			1	
TNN	0	LGGM	GRCh37	1	175113533	175113533	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	66	7	.	.	ENST00000239462.4:c.3606T>C	p.Leu1202=	p.L1202=	ENST00000239462	NM_022093.1	1202	ctT/ctC	0	1	1	UPI00001D7DA9	0		ENST00000239462		ENSG00000120332	22942		73			HGNC	p.L1202L		TNN		SNV							ENST00000239462	protein_coding			Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,SMART_domains:SM00186,Superfamily_domains:SSF56496		L		C		3719/5008							YES	TNN,synonymous_variant,p.=,ENST00000239462,NM_022093.1;							LOW	3606/3900		TENN_HUMAN			Transcript			.	ENSP00000239462		CCDS30943.1			1	
TIAM2	0	LGGM	GRCh37	6	155486467	155486467	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091547	H091547N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	30	7	.	.	ENST00000461783.3:c.2285A>T	p.Lys762Met	p.K762M	ENST00000461783		762	aAg/aTg	0	1		UPI00004DF8BE	0	NA	ENST00000318981		ENSG00000146426	11806		37	1.905		HGNC	p.K74M		TIAM2		SNV							ENST00000528391	protein_coding	getma.org/?cm=var&var=hg19,6,155486467,A,T&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		K/M		T	medium	2493/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=621&re=820&var=K762M	deleterious(0)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Lys762Met,ENST00000461783,;TIAM2,missense_variant,p.Lys762Met,ENST00000456144,;TIAM2,missense_variant,p.Lys114Met,ENST00000367174,;TIAM2,missense_variant,p.Lys762Met,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Lys762Met,ENST00000360366,;TIAM2,missense_variant,p.Lys762Met,ENST00000529824,;TIAM2,missense_variant,p.Lys762Met,ENST00000528535,;TIAM2,missense_variant,p.Lys74Met,ENST00000528391,;TIAM2,missense_variant,p.Lys74Met,ENST00000456877,;							MODERATE	2285/5106	K762M	TIAM2_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000327315		CCDS34558.1			1	
ATP6V1B1	0	LGGM	GRCh37	2	71188815	71188815	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	11	7	.	.	ENST00000234396.4:c.777T>C	p.Asn259=	p.N259=	ENST00000234396	NM_001692.3	259	aaT/aaC	0	1	1	UPI000013C9A0	0		ENST00000234396		ENSG00000116039	853		18			HGNC	p.N259N		ATP6V1B1		SNV			1				ENST00000234396	protein_coding			Gene3D:3.40.50.300,HAMAP:MF_00310,Pfam_domain:PF00006,hmmpanther:PTHR15184,hmmpanther:PTHR15184:SF29,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01040		N		C		850/1891				Q71UA2_HUMAN,C9JZ02_HUMAN,C9JTN0_HUMAN,B4DWH7_HUMAN			YES	ATP6V1B1,synonymous_variant,p.=,ENST00000234396,NM_001692.3;ATP6V1B1,synonymous_variant,p.=,ENST00000412314,;AC007040.11,intron_variant,,ENST00000606025,;ATP6V1B1,downstream_gene_variant,,ENST00000454446,;ATP6V1B1,downstream_gene_variant,,ENST00000432098,;ATP6V1B1,upstream_gene_variant,,ENST00000433895,;RN7SL160P,upstream_gene_variant,,ENST00000468558,;ATP6V1B1,3_prime_UTR_variant,,ENST00000432367,;ATP6V1B1,non_coding_transcript_exon_variant,,ENST00000495118,;AC007040.11,intron_variant,,ENST00000453130,;ATP6V1B1,downstream_gene_variant,,ENST00000463380,;							LOW	777/1542		VATB1_HUMAN			Transcript			.	ENSP00000234396		CCDS1912.1			1	
SNX15	0	LGGM	GRCh37	11	64802432	64802432	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	71	7	.	.	ENST00000377244.3:c.370C>T	p.Arg124Trp	p.R124W	ENST00000377244	NM_013306.4	124	Cgg/Tgg	0	1	1	UPI0000135B4B	0	getma.org/pdb.php?prot=SNX15_HUMAN&from=7&to=125&var=R124W	ENST00000377244		ENSG00000110025	14978		78	1.32		HGNC	p.R124W	rs771422309,COSM1127689	SNX15		SNV				9.65E-05		0,1	ENST00000352068	protein_coding	getma.org/?cm=var&var=hg19,11,64802432,C,T&fts=all		PROSITE_profiles:PS50195,hmmpanther:PTHR15508,Gene3D:3.30.1520.10,SMART_domains:SM00312,Superfamily_domains:SSF64268		R/W		T	low	500/1939	1.51E-05	getma.org/?cm=msa&ty=f&p=SNX15_HUMAN&rb=7&re=125&var=R124W	deleterious(0)	E5KQS5_HUMAN			YES	SNX15,missense_variant,p.Arg124Trp,ENST00000377244,NM_013306.4,NM_147777.3;SNX15,missense_variant,p.Arg124Trp,ENST00000352068,;SNX15,missense_variant,p.Arg120Trp,ENST00000534637,;SNX15,missense_variant,p.Arg112Trp,ENST00000524831,;SNX15,intron_variant,,ENST00000525648,;SNX15,splice_region_variant,,ENST00000526702,;RP11-399J13.3,splice_region_variant,,ENST00000301886,;SNX15,splice_region_variant,,ENST00000529673,;					0,1		MODERATE	370/1029	R124W	SNX15_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000366452	1.65E-05	CCDS8089.1			1	
NPAP1	0	LGGM	GRCh37	15	24922107	24922107	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	29	8	.	.	ENST00000329468.2:c.1093G>C	p.Asp365His	p.D365H	ENST00000329468	NM_018958.2	365	Gac/Cac	0	1	1	UPI00001AFA1B	0	NA	ENST00000329468		ENSG00000185823	1190		37	0.695		HGNC	p.D365H		NPAP1		SNV							ENST00000329468	protein_coding	getma.org/?cm=var&var=hg19,15,24922107,G,C&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229		D/H		C	neutral	1567/8053		getma.org/?cm=msa&ty=f&p=CO002_HUMAN&rb=1&re=1154&var=D365H	tolerated(0.08)				YES	NPAP1,missense_variant,p.Asp365His,ENST00000329468,NM_018958.2;							MODERATE	1093/3471	D365H	NPAP1_HUMAN			Transcript		benign(0.333)	.	ENSP00000333735		CCDS10015.1			1	
CDH12	0	LGGM	GRCh37	5	22078563	22078563	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	24	8	.	.	ENST00000382254.1:c.223G>A	p.Val75Met	p.V75M	ENST00000382254	NM_004061.3	75	Gtg/Atg	0	1	1	UPI00000622EB	0	getma.org/pdb.php?prot=CAD12_HUMAN&from=59&to=151&var=V75M	ENST00000382254		ENSG00000154162	1751		32	3.825		HGNC	p.V75M		CDH12		SNV							ENST00000504376	protein_coding	getma.org/?cm=var&var=hg19,5,22078563,C,T&fts=all		Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,Superfamily_domains:SSF49313		V/M		T	high	1310/4164		getma.org/?cm=msa&ty=f&p=CAD12_HUMAN&rb=59&re=151&var=V75M	deleterious(0)	B3KRT0_HUMAN			YES	CDH12,missense_variant,p.Val75Met,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Val75Met,ENST00000504376,;CDH12,missense_variant,p.Val75Met,ENST00000522262,;CDH12,downstream_gene_variant,,ENST00000518209,;CDH12,downstream_gene_variant,,ENST00000521745,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;							MODERATE	223/2385	V75M	CAD12_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000371689		CCDS3890.1			1	
ITGAV	0	LGGM	GRCh37	2	187487152	187487152	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091547	H091547N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	62	9	.	.	ENST00000261023.3:c.403A>C	p.Ile135Leu	p.I135L	ENST00000261023	NM_002210.4	135	Att/Ctt	0	1	1	UPI000013D12E	0	getma.org/pdb.php?prot=ITAV_HUMAN&from=1&to=200&var=I135L	ENST00000261023		ENSG00000138448	6150		71	1.475		HGNC	p.I135L		ITGAV		SNV							ENST00000374907	protein_coding	getma.org/?cm=var&var=hg19,2,187487152,A,C&fts=all		Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF4,Superfamily_domains:SSF69318		I/L		C	low	677/7030		getma.org/?cm=msa&ty=f&p=ITAV_HUMAN&rb=1&re=200&var=I135L	deleterious(0.02)	L7RXH0_HUMAN			YES	ITGAV,missense_variant,p.Ile135Leu,ENST00000261023,NM_002210.4;ITGAV,missense_variant,p.Ile135Leu,ENST00000374907,NM_001145000.2;ITGAV,missense_variant,p.Ile89Leu,ENST00000433736,NM_001144999.2;							MODERATE	403/3147	I135L	ITAV_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000261023		CCDS2292.1			1	
RRAD	0	LGGM	GRCh37	16	66956068	66956068	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	7	9	.	.	ENST00000299759.6:c.838C>G	p.Arg280Gly	p.R280G	ENST00000299759		280	Cgc/Ggc	0	1	1	UPI0000072F9C	0	NA	ENST00000299759		ENSG00000166592	10446		16	2.475		HGNC	p.R280G		RRAD		SNV							ENST00000420652	protein_coding	getma.org/?cm=var&var=hg19,16,66956068,G,C&fts=all		PIRSF_domain:PIRSF038017,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF74		R/G		C	medium	1089/1569		getma.org/?cm=msa&ty=f&p=RAD_HUMAN&rb=254&re=308&var=R280G	deleterious(0)				YES	RRAD,missense_variant,p.Arg280Gly,ENST00000299759,;RRAD,missense_variant,p.Arg280Gly,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,intron_variant,,ENST00000567791,;CDH16,upstream_gene_variant,,ENST00000567269,;CDH16,upstream_gene_variant,,ENST00000568698,;							MODERATE	838/927	R280G	RAD_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000299759		CCDS10824.1			1	
CD93	0	LGGM	GRCh37	20	23065347	23065347	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	12	10	.	.	ENST00000246006.4:c.1483C>A	p.Pro495Thr	p.P495T	ENST00000246006	NM_012072.3	495	Ccc/Acc	0	1	1	UPI00001273BC	0	NA	ENST00000246006		ENSG00000125810	15855		22	1.15		HGNC	p.P495T		CD93		SNV							ENST00000246006	protein_coding	getma.org/?cm=var&var=hg19,20,23065347,G,T&fts=all		hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,PIRSF_domain:PIRSF001775		P/T		T	low	1631/6708		getma.org/?cm=msa&ty=f&p=C1QR1_HUMAN&rb=492&re=590&var=P495T	deleterious(0.04)				YES	CD93,missense_variant,p.Pro495Thr,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;							MODERATE	1483/1959	P495T	C1QR1_HUMAN			Transcript		benign(0.193)	.	ENSP00000246006		CCDS13149.1			1	
MUC5B	0	LGGM	GRCh37	11	1274084	1274084	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	7	10	.	.	ENST00000529681.1:c.15091G>A	p.Val5031Met	p.V5031M	ENST00000529681	NM_002458.2	5031	Gtg/Atg	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		17	1.1		HGNC	p.V5031M	rs369603904,COSM3397546,COSM3397545	MUC5B	0.000278	SNV	A:0		1	0.000125		0,1,1	ENST00000529681	protein_coding	getma.org/?cm=var&var=hg19,11,1274084,G,A&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		V/M	A:0.0002	A	low	15149/17911	6.80E-05	getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=4838&re=5037&var=V5031M		Q93043_HUMAN			YES	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,;					0,1,1		MODERATE	15091/17289	V5031M	MUC5B_HUMAN			Transcript		unknown(0)	.	ENSP00000436812	7.47E-05	CCDS44515.2			1	
FAAH2	0	LGGM	GRCh37	X	57475070	57475070	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	32	10	.	.	ENST00000374900.4:c.1342G>T	p.Val448Leu	p.V448L	ENST00000374900	NM_174912.3	448	Gtg/Ttg	0	1	1	UPI000004CC6F	0	getma.org/pdb.php?prot=FAAH2_HUMAN&from=69&to=513&var=V448L	ENST00000374900		ENSG00000165591	26440		42	2.16		HGNC	p.V448L		FAAH2		SNV							ENST00000374900	protein_coding	getma.org/?cm=var&var=hg19,X,57475070,G,T&fts=all		Gene3D:3.90.1300.10,Pfam_domain:PF01425,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF66,Superfamily_domains:SSF75304		V/L		T	medium	1462/1983		getma.org/?cm=msa&ty=f&p=FAAH2_HUMAN&rb=69&re=513&var=V448L	deleterious(0.03)	B2C6G4_HUMAN			YES	FAAH2,missense_variant,p.Val448Leu,ENST00000374900,NM_174912.3;FAAH2,non_coding_transcript_exon_variant,,ENST00000465623,;FAAH2,intron_variant,,ENST00000491179,;							MODERATE	1342/1599	V448L	FAAH2_HUMAN			Transcript		benign(0.424)	.	ENSP00000364035		CCDS14375.1			1	
NFXL1	0	LGGM	GRCh37	4	47905321	47905321	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	29	10	.	.	ENST00000507489.1:c.536G>A	p.Cys179Tyr	p.C179Y	ENST00000507489	NM_001278624.1	179	tGt/tAt	0	1		UPI000018DB15	0	NA	ENST00000329043		ENSG00000170448	18726		39	3.055		HGNC	p.C179Y		NFXL1		SNV							ENST00000381538	protein_coding	getma.org/?cm=var&var=hg19,4,47905321,C,T&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR12360:SF1,hmmpanther:PTHR12360,PROSITE_patterns:PS01359		C/Y		T	medium	605/2271		getma.org/?cm=msa&ty=f&p=NFXL1_HUMAN&rb=1&re=200&var=C179Y	deleterious(0.01)					NFXL1,missense_variant,p.Cys179Tyr,ENST00000507489,NM_001278624.1;NFXL1,missense_variant,p.Cys179Tyr,ENST00000381538,NM_152995.5,NM_001278623.1;NFXL1,missense_variant,p.Cys179Tyr,ENST00000329043,;NFXL1,missense_variant,p.Cys179Tyr,ENST00000464756,;NFXL1,non_coding_transcript_exon_variant,,ENST00000507131,;							MODERATE	536/2202	C179Y	NFXL1_HUMAN			Transcript		benign(0.238)	.	ENSP00000333113					1	
MADD	0	LGGM	GRCh37	11	47333342	47333342	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	35	11	.	.	ENST00000311027.5:c.4218G>C	p.Gly1406=	p.G1406=	ENST00000311027	NM_003682.3	1406	ggG/ggC	0	1	1	UPI000013E874	0		ENST00000311027		ENSG00000110514	6766		46			HGNC	p.G216G		MADD		SNV							ENST00000405573	protein_coding			hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008		G		C		4383/5990				Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN			YES	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,synonymous_variant,p.=,ENST00000405573,;							LOW	4218/4944		MADD_HUMAN			Transcript			.	ENSP00000310933		CCDS7930.1			1	
APOB	0	LGGM	GRCh37	2	21246510	21246510	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091547	H091547N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	29	11	.	.	ENST00000233242.1:c.2491T>C	p.Phe831Leu	p.F831L	ENST00000233242	NM_000384.2	831	Ttc/Ctc	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		40	2.585		HGNC	p.F831L		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21246510,A,G&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Gene3D:1lshA04,Pfam_domain:PF09172,Superfamily_domains:SSF56968		F/L		G	medium	2619/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=632&re=945&var=F831L		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Phe831Leu,ENST00000233242,NM_000384.2;APOB,downstream_gene_variant,,ENST00000399256,;							MODERATE	2491/13692	F831L	APOB_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000233242		CCDS1703.1			1	
DHX58	0	LGGM	GRCh37	17	40256854	40256854	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	19	11	.	.	ENST00000251642.3:c.1493C>T	p.Ala498Val	p.A498V	ENST00000251642	NM_024119.2	498	gCg/gTg	0	1	1	UPI000006ED88	0	getma.org/pdb.php?prot=DHX58_HUMAN&from=350&to=514&var=A498V	ENST00000251642		ENSG00000108771	29517		30	1.18		HGNC	p.A498V		DHX58		SNV							ENST00000251642	protein_coding	getma.org/?cm=var&var=hg19,17,40256854,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14074:SF7,hmmpanther:PTHR14074,PROSITE_profiles:PS51194		A/V		A	low	1716/2617		getma.org/?cm=msa&ty=f&p=DHX58_HUMAN&rb=350&re=514&var=A498V	tolerated(0.33)	K7EMZ5_HUMAN,C9JG98_HUMAN,C9JE76_HUMAN			YES	DHX58,missense_variant,p.Ala498Val,ENST00000251642,NM_024119.2;DHX58,downstream_gene_variant,,ENST00000413196,;DHX58,missense_variant,p.Ala25Val,ENST00000589979,;DHX58,non_coding_transcript_exon_variant,,ENST00000586522,;DHX58,non_coding_transcript_exon_variant,,ENST00000590637,;DHX58,upstream_gene_variant,,ENST00000592024,;							MODERATE	1493/2037	A498V	DHX58_HUMAN			Transcript		benign(0.002)	.	ENSP00000251642		CCDS11416.1			1	
CEP19	0	LGGM	GRCh37	3	196434574	196434574	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	72	12	.	.	ENST00000409690.3:c.352G>A	p.Ala118Thr	p.A118T	ENST00000409690	NM_032898.3	118	Gcc/Acc	0	1	1	UPI0000071B37	0	NA	ENST00000409690		ENSG00000174007	28209		84	2.19		HGNC	p.A118T		CEP19		SNV			1				ENST00000409690	protein_coding	getma.org/?cm=var&var=hg19,3,196434574,C,T&fts=all		Pfam_domain:PF14933,hmmpanther:PTHR31539		A/T		T	medium	775/2201		getma.org/?cm=msa&ty=f&p=CEP19_HUMAN&rb=1&re=163&var=A114T	tolerated(0.15)				YES	CEP19,missense_variant,p.Ala118Thr,ENST00000409690,NM_032898.3;CEP19,missense_variant,p.Ala79Thr,ENST00000399942,;PIGX,intron_variant,,ENST00000426755,;PIGX,upstream_gene_variant,,ENST00000392391,;PIGX,upstream_gene_variant,,ENST00000314118,NM_017861.3;PIGX,upstream_gene_variant,,ENST00000541663,;PIGX,upstream_gene_variant,,ENST00000296333,NM_001166304.1;PIGX,upstream_gene_variant,,ENST00000451319,;PIGX,upstream_gene_variant,,ENST00000421265,;RNU6-646P,downstream_gene_variant,,ENST00000364571,;PIGX,upstream_gene_variant,,ENST00000415832,;PIGX,upstream_gene_variant,,ENST00000453218,;PIGX,upstream_gene_variant,,ENST00000457284,;							MODERATE	352/504	A114T	CEP19_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000387209		CCDS43193.2			1	
SFMBT1	0	LGGM	GRCh37	3	52941323	52941323	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	57	12	.	.	ENST00000394752.3:c.2093G>A	p.Gly698Glu	p.G698E	ENST00000394752	NM_016329.3	698	gGg/gAg	0	1	1	UPI0000070BC6	0	NA	ENST00000394752		ENSG00000163935	20255		69	2.015		HGNC	p.G698E		SFMBT1		SNV							ENST00000358080	protein_coding	getma.org/?cm=var&var=hg19,3,52941323,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12247:SF77,hmmpanther:PTHR12247		G/E		T	medium	2476/4548		getma.org/?cm=msa&ty=f&p=SMBT1_HUMAN&rb=630&re=793&var=G698E	tolerated(0.78)	C9JWI3_HUMAN,C9IZZ5_HUMAN,C9IY64_HUMAN			YES	SFMBT1,missense_variant,p.Gly698Glu,ENST00000394752,NM_016329.3;SFMBT1,missense_variant,p.Gly698Glu,ENST00000394750,;SFMBT1,missense_variant,p.Gly698Glu,ENST00000358080,;SFMBT1,missense_variant,p.Gly698Glu,ENST00000296295,;							MODERATE	2093/2601	G698E	SMBT1_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000378235		CCDS2867.1			1	
ZNF2	0	LGGM	GRCh37	2	95846987	95846987	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	58	12	.	.	ENST00000340539.5:c.414G>A	p.Lys138=	p.K138=	ENST00000340539	NM_021088.2	138	aaG/aaA	0	1	1	UPI0000207C0D	0		ENST00000340539		ENSG00000163067	12991		70			HGNC	p.K100K		ZNF2		SNV							ENST00000295210	protein_coding			hmmpanther:PTHR24377:SF152,hmmpanther:PTHR24377		K		A		876/2604				B2RE18_HUMAN,B0AZN8_HUMAN			YES	ZNF2,synonymous_variant,p.=,ENST00000398107,NM_001017396.1;ZNF2,synonymous_variant,p.=,ENST00000425369,;ZNF2,synonymous_variant,p.=,ENST00000340539,NM_021088.2;ZNF2,synonymous_variant,p.=,ENST00000295210,NM_001282398.1;ZNF2,synonymous_variant,p.=,ENST00000453539,;							LOW	414/1281		ZNF2_HUMAN			Transcript			.	ENSP00000345392		CCDS42712.1			1	
APOB	0	LGGM	GRCh37	2	21232683	21232683	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	48	13	.	.	ENST00000233242.1:c.7057C>G	p.Gln2353Glu	p.Q2353E	ENST00000233242	NM_000384.2	2353	Caa/Gaa	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		61	1.1		HGNC	p.Q2353E		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21232683,G,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		Q/E		C	low	7185/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=2273&re=2472&var=Q2353E		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Gln2353Glu,ENST00000233242,NM_000384.2;							MODERATE	7057/13692	Q2353E	APOB_HUMAN			Transcript		benign(0.079)	.	ENSP00000233242		CCDS1703.1			1	
USP4	0	LGGM	GRCh37	3	49354713	49354713	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	35	13	.	.	ENST00000265560.4:c.696-5626G>A		*232*	ENST00000265560	NM_003363.3			0	1	1	UPI000013D63C	0		ENST00000265560		ENSG00000114316	12627		48			HGNC	p.L298L		USP4		SNV							ENST00000415188	protein_coding							T		-/3126							YES	USP4,synonymous_variant,p.=,ENST00000415188,;USP4,intron_variant,,ENST00000351842,NM_199443.2;USP4,intron_variant,,ENST00000265560,NM_003363.3;USP4,intron_variant,,ENST00000416417,NM_001251877.1;USP4,non_coding_transcript_exon_variant,,ENST00000462673,;USP4,intron_variant,,ENST00000488520,;USP4,intron_variant,,ENST00000486549,;USP4,upstream_gene_variant,,ENST00000461553,;USP4,upstream_gene_variant,,ENST00000485450,;							MODIFIER	-/2892		UBP4_HUMAN			Transcript			.	ENSP00000265560		CCDS2793.1			1	
PCDHB7	0	LGGM	GRCh37	5	140553057	140553057	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	30	13	.	.	ENST00000231137.3:c.641C>A	p.Ala214Asp	p.A214D	ENST00000231137	NM_018940.2	214	gCt/gAt	0	1	1	UPI00001273E3	0	getma.org/pdb.php?prot=PCDB7_HUMAN&from=138&to=233&var=A214D	ENST00000231137		ENSG00000113212	8692		43	4.53		HGNC	p.A214D		PCDHB7		SNV							ENST00000231137	protein_coding	getma.org/?cm=var&var=hg19,5,140553057,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/D		A	high	815/3715		getma.org/?cm=msa&ty=f&p=PCDB7_HUMAN&rb=138&re=233&var=A214D	deleterious_low_confidence(0)				YES	PCDHB7,missense_variant,p.Ala214Asp,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;							MODERATE	641/2382	A214D	PCDB7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000231137		CCDS4249.1			1	
NLGN1	0	LGGM	GRCh37	3	173998450	173998450	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	54	14	.	.	ENST00000457714.1:c.1829T>C	p.Val610Ala	p.V610A	ENST00000457714	NM_014932.3	610	gTa/gCa	0	1	1	UPI0000072F54	0	NA	ENST00000457714		ENSG00000169760	14291		68	2.465		HGNC	p.V610A		NLGN1		SNV							ENST00000361589	protein_coding	getma.org/?cm=var&var=hg19,3,173998450,T,C&fts=all		Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52		V/A		C	medium	2258/8242		getma.org/?cm=msa&ty=f&p=NLGN1_HUMAN&rb=624&re=823&var=V627A	deleterious(0)				YES	NLGN1,missense_variant,p.Val610Ala,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Val610Ala,ENST00000361589,;NLGN1,missense_variant,p.Val610Ala,ENST00000545397,;NLGN1,missense_variant,p.Val650Ala,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;							MODERATE	1829/2472	V627A	NLGN1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000392500		CCDS3222.1			1	
SEC24A	0	LGGM	GRCh37	5	134029555	134029555	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	34	14	.	.	ENST00000398844.2:c.1918C>G	p.Gln640Glu	p.Q640E	ENST00000398844	NM_021982.2	640	Caa/Gaa	0	1	1	UPI0000185FF9	0	getma.org/pdb.php?prot=SC24A_HUMAN&from=501&to=739&var=Q640E	ENST00000398844		ENSG00000113615	10703		48	2.35		HGNC	p.Q640E		SEC24A		SNV							ENST00000398844	protein_coding	getma.org/?cm=var&var=hg19,5,134029555,C,G&fts=all		Superfamily_domains:SSF53300,Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1		Q/E		G	medium	2206/6299		getma.org/?cm=msa&ty=f&p=SC24A_HUMAN&rb=501&re=739&var=Q640E	tolerated(0.22)				YES	SEC24A,missense_variant,p.Gln640Glu,ENST00000398844,NM_021982.2;SEC24A,downstream_gene_variant,,ENST00000322887,NM_001252231.1;SEC24A,downstream_gene_variant,,ENST00000513123,;							MODERATE	1918/3282	Q640E	SC24A_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000381823		CCDS43363.1			1	
FMO5	0	LGGM	GRCh37	1	146672930	146672930	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	96	16	.	.	ENST00000254090.4:c.987C>G	p.Ala329=	p.A329=	ENST00000254090	NM_001461.3	329	gcC/gcG	0	1	1	UPI000013CE15	0		ENST00000254090		ENSG00000131781	3773		112			HGNC	p.A329A		FMO5		SNV							ENST00000441068	protein_coding			Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF48,Superfamily_domains:SSF51905		A		C		1376/2632				E9PQ84_HUMAN,E9PP51_HUMAN			YES	FMO5,synonymous_variant,p.=,ENST00000254090,NM_001461.3;FMO5,synonymous_variant,p.=,ENST00000441068,NM_001144829.2;FMO5,intron_variant,,ENST00000369272,NM_001144830.2;RP11-337C18.8,intron_variant,,ENST00000607149,;RP11-337C18.8,intron_variant,,ENST00000606757,;RP11-337C18.10,intron_variant,,ENST00000606856,;FMO5,splice_region_variant,,ENST00000527849,;CCT8P1,downstream_gene_variant,,ENST00000413611,;							LOW	987/1602		FMO5_HUMAN			Transcript			.	ENSP00000254090		CCDS926.1			1	
GUCY2C	0	LGGM	GRCh37	12	14832632	14832632	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	37	16	.	.	ENST00000261170.3:c.789A>G	p.Ala263=	p.A263=	ENST00000261170	NM_004963.3	263	gcA/gcG	0	1	1	UPI000013D135	0		ENST00000261170		ENSG00000070019	4688		53			HGNC	p.A263A		GUCY2C		SNV			1				ENST00000261170	protein_coding			Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF41,Superfamily_domains:SSF53822		A		C		926/3834							YES	GUCY2C,synonymous_variant,p.=,ENST00000261170,NM_004963.3;RP11-174G6.1,intron_variant,,ENST00000501178,;GUCY2C,non_coding_transcript_exon_variant,,ENST00000535803,;							LOW	789/3222		GUC2C_HUMAN			Transcript			.	ENSP00000261170		CCDS8664.1			1	
CSPP1	0	LGGM	GRCh37	8	68026084	68026084	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091547	H091547N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	103	17	.	.	ENST00000262210.5:c.1259A>T	p.Asp420Val	p.D420V	ENST00000262210	NM_024790.6	420	gAc/gTc	0	1	1	UPI00005A95D7	0	NA	ENST00000262210		ENSG00000104218	26193		120	1.905		HGNC	p.D420V		CSPP1		SNV			1				ENST00000262210	protein_coding	getma.org/?cm=var&var=hg19,8,68026084,A,T&fts=all		hmmpanther:PTHR21616:SF1,hmmpanther:PTHR21616		D/V		T	medium	1290/4367		getma.org/?cm=msa&ty=f&p=CSPP1_HUMAN&rb=401&re=600&var=D455V	deleterious(0)				YES	CSPP1,missense_variant,p.Asp420Val,ENST00000262210,NM_024790.6;CSPP1,missense_variant,p.Asp126Val,ENST00000412460,;CSPP1,missense_variant,p.Asp126Val,ENST00000519668,;CSPP1,3_prime_UTR_variant,,ENST00000519163,;							MODERATE	1259/3666	D455V	CSPP1_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000262210		CCDS43744.1			1	
COL6A5	0	LGGM	GRCh37	3	130174403	130174403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	76	18	.	.	ENST00000265379.6:c.6683G>T	p.Gly2228Val	p.G2228V	ENST00000265379	NM_001278298.1	2228	gGa/gTa	0	1		UPI00015E564F	0	NA	ENST00000312481		ENSG00000172752	26674		94	1.61		HGNC	p.G2228V		COL6A5		SNV							ENST00000265379	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,3,130174403,G,T&fts=all				G/V		T	low	7177/9226		getma.org/?cm=msa&ty=f&p=CO6A5_HUMAN&rb=2142&re=2290&var=G2228V	deleterious_low_confidence(0.01)					COL6A5,missense_variant,p.Gly2228Val,ENST00000265379,NM_001278298.1;COL6A5,missense_variant,p.Gly2228Val,ENST00000432398,NM_153264.6;COL6A5,missense_variant,p.Gly480Val,ENST00000512836,;COL6A5,missense_variant,p.Gly63Val,ENST00000512482,;COL6A5,missense_variant,p.Gly171Val,ENST00000373157,;COL6A5,missense_variant,p.Gly2228Val,ENST00000312481,;							MODERATE	6683/7848	G2228V	CO6A5_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000309762					1	
ADGB	0	LGGM	GRCh37	6	147022099	147022099	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091547	H091547N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	90	18	.	.	ENST00000397944.3:c.1600A>G	p.Lys534Glu	p.K534E	ENST00000397944	NM_024694.3	534	Aag/Gag	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		108	1.79		HGNC	p.K534E		ADGB		SNV							ENST00000397944	protein_coding	getma.org/?cm=var&var=hg19,6,147022099,A,G&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,SMART_domains:SM00230		K/E		G	low	1676/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=401&re=600&var=K534E	deleterious(0.01)				YES	ADGB,missense_variant,p.Lys534Glu,ENST00000397944,NM_024694.3;ADGB,5_prime_UTR_variant,,ENST00000367493,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;							MODERATE	1600/5004	K534E	ADGB_HUMAN			Transcript		possibly_damaging(0.556)	.	ENSP00000381036					1	
GLRA4	0	LGGM	GRCh37	X	102974058	102974058	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	34	19	.	.	ENST00000372617.4:c.860G>A	p.Arg287His	p.R287H	ENST00000372617	NM_001024452.2	287	cGt/cAt	0	1	1	UPI000188140C	0	getma.org/pdb.php?prot=GLRA4_HUMAN&from=262&to=371&var=R287H	ENST00000372617		ENSG00000188828	31715	0.000215	53	3.9		HGNC	p.R287H	rs768567167	GLRA4		SNV							ENST00000372617	protein_coding	getma.org/?cm=var&var=hg19,X,102974058,C,T&fts=all		hmmpanther:PTHR18945:SF211,hmmpanther:PTHR18945,Gene3D:1.20.58.390,Pfam_domain:PF02932,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112,Prints_domain:PR00253		R/H		T	high	1281/1795	4.17E-05	getma.org/?cm=msa&ty=f&p=GLRA4_HUMAN&rb=262&re=371&var=R287H	deleterious(0)				YES	GLRA4,missense_variant,p.Arg287His,ENST00000372617,NM_001024452.2;GLRA4,downstream_gene_variant,,ENST00000469567,;GLRA4,non_coding_transcript_exon_variant,,ENST00000480725,;GLRA4,intron_variant,,ENST00000436213,;							MODERATE	860/1254	R287H	GLRA4_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000361700	3.29E-05	CCDS43980.2			1	
MUC3A	0	LGGM	GRCh37	7	100550096	100550096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	152	19	.	.	ENST00000379458.4:c.677C>A	p.Thr226Lys	p.T226K	ENST00000379458		226	aCa/aAa	0	1	1	UPI0002064F4D	0	NA	ENST00000379458		ENSG00000228273	7513		171	0		Uniprot_gn	p.T226K		MUC3A		SNV							ENST00000379458	protein_coding	getma.org/?cm=var&var=hg19,7,100550096,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF1		T/K		A	neutral	677/1005		getma.org/?cm=msa&ty=f&p=MUC3A_HUMAN&rb=151&re=1979&var=T226K	deleterious(0.03)	I0EZ73_HUMAN,A6NP22_HUMAN			YES	MUC3A,missense_variant,p.Thr226Lys,ENST00000379458,;MUC3A,upstream_gene_variant,,ENST00000319509,;MUC3A,upstream_gene_variant,,ENST00000422757,;MUC3A,non_coding_transcript_exon_variant,,ENST00000483366,;MUC3A,upstream_gene_variant,,ENST00000483133,;MUC3A,upstream_gene_variant,,ENST00000414964,;							MODERATE	677/1005	T226K				Transcript		unknown(0)	.	ENSP00000368771					1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H091547	H091547N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	80	37	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			117		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
OR5AC2	0	LGGM	GRCh37	3	97806079	97806079	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	82	25	.	.	ENST00000358642.2:c.63T>A	p.Asp21Glu	p.D21E	ENST00000358642	NM_054106.1	21	gaT/gaA	0	1	1	UPI0000441EFD	0	NA	ENST00000358642		ENSG00000196578	15431		107	0.81		HGNC	p.D21E		OR5AC2		SNV							ENST00000358642	protein_coding	getma.org/?cm=var&var=hg19,3,97806079,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF96,Superfamily_domains:SSF81321		D/E		A	low	63/930		getma.org/?cm=msa&ty=f&p=O5AC2_HUMAN&rb=1&re=140&var=D21E	tolerated(0.11)				YES	OR5AC2,missense_variant,p.Asp21Glu,ENST00000358642,NM_054106.1;							MODERATE	63/930	D21E	O5AC2_HUMAN			Transcript		benign(0.023)	.	ENSP00000351466		CCDS33796.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1851527	1851527	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091547	H091547N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	87	26	.	.	ENST00000349830.3:c.1731A>G	p.Ala577=	p.A577=	ENST00000349830	NM_014629.2	577	gcA/gcG	0	1		UPI0000D89824	0		ENST00000398564		ENSG00000104728	14103		113			HGNC	p.A250A	rs373020483	ARHGEF10		SNV	G:0		1				ENST00000522435	protein_coding			Gene3D:1.20.900.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,Low_complexity_(Seg):seg,SMART_domains:SM00325,Superfamily_domains:SSF48065		A	G:0.0001	G		1806/5480	1.50E-05							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,synonymous_variant,p.=,ENST00000398560,;ARHGEF10,upstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;							LOW	1806/4110		ARHGA_HUMAN			Transcript			.	ENSP00000381571	8.24E-06				1	
DYRK3	0	LGGM	GRCh37	1	206821889	206821889	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091547	H091547N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	172	27	.	.	ENST00000367109.2:c.1346C>A	p.Pro449His	p.P449H	ENST00000367109	NM_003582.2	449	cCc/cAc	0	1	1	UPI0000071267	0	getma.org/pdb.php?prot=DYRK3_HUMAN&from=209&to=522&var=P449H	ENST00000367109		ENSG00000143479	3094		199	2.72		HGNC	p.P449H		DYRK3		SNV							ENST00000367109	protein_coding	getma.org/?cm=var&var=hg19,1,206821889,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24058:SF35,hmmpanther:PTHR24058,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/H		A	medium	1514/2163		getma.org/?cm=msa&ty=f&p=DYRK3_HUMAN&rb=209&re=522&var=P449H	deleterious(0)				YES	DYRK3,missense_variant,p.Pro429His,ENST00000367106,;DYRK3,missense_variant,p.Pro429His,ENST00000367108,NM_001004023.1;DYRK3,missense_variant,p.Pro449His,ENST00000367109,NM_003582.2;DYRK3,downstream_gene_variant,,ENST00000441486,;DYRK3,intron_variant,,ENST00000489878,;							MODERATE	1346/1767	P449H	DYRK3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356076		CCDS30999.1			1	
SPATA16	0	LGGM	GRCh37	3	172835344	172835344	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	101	31	.	.	ENST00000351008.3:c.178C>G	p.Leu60Val	p.L60V	ENST00000351008	NM_031955.5	60	Ctt/Gtt	0	1	1	UPI000013D9BF	0	NA	ENST00000351008		ENSG00000144962	29935		132	-0.345		HGNC	p.L60V		SPATA16		SNV			1				ENST00000351008	protein_coding	getma.org/?cm=var&var=hg19,3,172835344,G,C&fts=all		Pfam_domain:PF15015		L/V		C	neutral	362/2106		getma.org/?cm=msa&ty=f&p=SPT16_HUMAN&rb=1&re=566&var=L60V	tolerated_low_confidence(1)				YES	SPATA16,missense_variant,p.Leu60Val,ENST00000351008,NM_031955.5;							MODERATE	178/1710	L60V	SPT16_HUMAN			Transcript		benign(0.01)	.	ENSP00000341765		CCDS3221.1			1	
DEPDC1	0	LGGM	GRCh37	1	68943625	68943625	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	43	31	.	.	ENST00000456315.2:c.2143C>T	p.Pro715Ser	p.P715S	ENST00000456315	NM_001114120.1	715	Cct/Tct	0	1	1	UPI0000204557	0	NA	ENST00000456315		ENSG00000024526	22949		74	1.355		HGNC	p.P431S		DEPDC1		SNV							ENST00000370966	protein_coding	getma.org/?cm=var&var=hg19,1,68943625,G,A&fts=all		hmmpanther:PTHR16206,hmmpanther:PTHR16206:SF12		P/S		A	low	2258/5331		getma.org/?cm=msa&ty=f&p=DEP1A_HUMAN&rb=591&re=809&var=P715S	tolerated(0.65)	E9PL61_HUMAN			YES	DEPDC1,missense_variant,p.Pro715Ser,ENST00000456315,NM_001114120.1;DEPDC1,missense_variant,p.Pro431Ser,ENST00000370966,NM_017779.4;RP4-694A7.2,upstream_gene_variant,,ENST00000425820,;DEPDC1,3_prime_UTR_variant,,ENST00000489862,;DEPDC1,non_coding_transcript_exon_variant,,ENST00000488146,;							MODERATE	2143/2436	P715S	DEP1A_HUMAN			Transcript		benign(0.206)	.	ENSP00000412292		CCDS44159.1			1	
SP140L	0	LGGM	GRCh37	2	231222648	231222648	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091547	H091547N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	155	37	.	.	ENST00000415673.2:c.236G>A	p.Arg79His	p.R79H	ENST00000415673	NM_138402.4	79	cGc/cAc	0	1	1	UPI000020974D	0	NA	ENST00000415673		ENSG00000185404	25105		192	1.815		HGNC	p.R79H	rs757776617	SP140L	6.06E-05	SNV							ENST00000444636	protein_coding	getma.org/?cm=var&var=hg19,2,231222648,G,A&fts=all		PROSITE_profiles:PS51414,hmmpanther:PTHR13711:SF156,hmmpanther:PTHR13711,Pfam_domain:PF03172		R/H		A	low	322/2665		getma.org/?cm=msa&ty=f&p=LY10L_HUMAN&rb=47&re=150&var=R79H	deleterious(0.05)				YES	SP140L,missense_variant,p.Arg79His,ENST00000243810,;SP140L,missense_variant,p.Arg79His,ENST00000396563,;SP140L,missense_variant,p.Arg79His,ENST00000415673,NM_138402.4;SP140L,missense_variant,p.Arg79His,ENST00000444636,;SP140,3_prime_UTR_variant,,ENST00000486687,;SP140L,5_prime_UTR_variant,,ENST00000458341,;							MODERATE	236/1743	R79H	SP14L_HUMAN			Transcript		benign(0.005)	.	ENSP00000397911	8.24E-06	CCDS46538.1			1	
IL24	0	LGGM	GRCh37	1	207074921	207074921	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	28	60	.	.	ENST00000391929.3:c.389T>C	p.Val130Ala	p.V130A	ENST00000391929		130	gTt/gCt	0	1		UPI0000037343	0	getma.org/pdb.php?prot=IL24_HUMAN&from=1&to=204&var=V129A	ENST00000294984		ENSG00000162892	11346		88	-0.455		HGNC	p.V129A		IL24		SNV							ENST00000294984	protein_coding	getma.org/?cm=var&var=hg19,1,207074921,T,C&fts=all		Gene3D:1.20.1250.10,hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF9,Superfamily_domains:SSF47266		V/A		C	neutral	660/1701		getma.org/?cm=msa&ty=f&p=IL24_HUMAN&rb=1&re=204&var=V129A	tolerated(0.8)					IL24,missense_variant,p.Val129Ala,ENST00000294984,NM_006850.3,NM_001185156.1;IL24,missense_variant,p.Val130Ala,ENST00000391929,;IL24,intron_variant,,ENST00000367093,NM_001185157.1,NM_001185158.1;IL24,intron_variant,,ENST00000480741,;FAIM3,downstream_gene_variant,,ENST00000367091,NM_005449.4;FAIM3,downstream_gene_variant,,ENST00000442471,NM_001142473.1;FAIM3,downstream_gene_variant,,ENST00000420007,NM_001193338.1;IL24,non_coding_transcript_exon_variant,,ENST00000491169,;FAIM3,downstream_gene_variant,,ENST00000528654,;IL24,3_prime_UTR_variant,,ENST00000367095,;FAIM3,downstream_gene_variant,,ENST00000463473,;FAIM3,downstream_gene_variant,,ENST00000474041,;RP11-564A8.8,upstream_gene_variant,,ENST00000604222,;							MODERATE	386/621	V129A	IL24_HUMAN			Transcript		benign(0.004)	.	ENSP00000294984		CCDS1471.1			1	
ZNF106	0	LGGM	GRCh37	15	42742032	42742032	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091547	H091547N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091547N.bam, H091547T.bam	Illumina HiSeq	88	80	.	.	ENST00000263805.4:c.2369A>G	p.Asn790Ser	p.N790S	ENST00000263805	NM_022473.1	790	aAc/aGc	0	1	1	UPI000006D6CC	0	NA	ENST00000263805		ENSG00000103994	12886		168	2.005		HGNC	p.N790S		ZNF106		SNV							ENST00000263805	protein_coding	getma.org/?cm=var&var=hg19,15,42742032,T,C&fts=all		hmmpanther:PTHR14435		N/S		C	medium	2696/10460		getma.org/?cm=msa&ty=f&p=ZF106_HUMAN&rb=1&re=1511&var=N790S	deleterious(0.02)	H3BNX5_HUMAN			YES	ZNF106,missense_variant,p.Asn790Ser,ENST00000263805,NM_022473.1;ZNF106,missense_variant,p.Asn573Ser,ENST00000565948,;ZNF106,intron_variant,,ENST00000565380,NM_001284307.1;ZNF106,intron_variant,,ENST00000565611,NM_001284306.1;ZNF106,upstream_gene_variant,,ENST00000565500,;ZNF106,downstream_gene_variant,,ENST00000564754,;ZNF106,upstream_gene_variant,,ENST00000567772,;ZNF106,downstream_gene_variant,,ENST00000567041,;							MODERATE	2369/5652	N790S	ZN106_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000263805		CCDS32208.1			1	
FLT4	0	LGGM	GRCh37	5	180045831	180045831	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	1	2	.	.	ENST00000261937.6:c.2940C>A	p.Val980=	p.V980=	ENST00000261937	NM_182925.4	980	gtC/gtA	0	1	1	UPI00001488E7	0		ENST00000261937		ENSG00000037280	3767		3			HGNC	p.V18V		FLT4		SNV			1				ENST00000512795	protein_coding			Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF49,SMART_domains:SM00219		V		T		3019/5857				D6RFF2_HUMAN			YES	FLT4,synonymous_variant,p.=,ENST00000261937,NM_182925.4;FLT4,synonymous_variant,p.=,ENST00000393347,NM_002020.4;FLT4,synonymous_variant,p.=,ENST00000502649,;FLT4,synonymous_variant,p.=,ENST00000512795,;FLT4,downstream_gene_variant,,ENST00000424276,;FLT4,non_coding_transcript_exon_variant,,ENST00000507059,;FLT4,non_coding_transcript_exon_variant,,ENST00000514810,;							LOW	2940/4092		VGFR3_HUMAN			Transcript			.	ENSP00000261937		CCDS4457.1			1	
DMTF1	0	LGGM	GRCh37	7	86823287	86823287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	14	2	.	.	ENST00000394703.5:c.1897T>C	p.Ser633Pro	p.S633P	ENST00000394703	NM_021145.3	633	Tcc/Ccc	0	1		UPI000006FB78	0	NA	ENST00000331242		ENSG00000135164	14603		16	0.805		HGNC	p.S83P		DMTF1		SNV							ENST00000582204	protein_coding	getma.org/?cm=var&var=hg19,7,86823287,T,C&fts=all		hmmpanther:PTHR10641:SF463,hmmpanther:PTHR10641		S/P		C	low	2223/3801		getma.org/?cm=msa&ty=f&p=DMTF1_HUMAN&rb=624&re=693&var=S633P	deleterious_low_confidence(0.02)	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				DMTF1,missense_variant,p.Ser367Pro,ENST00000414194,;DMTF1,missense_variant,p.Ser633Pro,ENST00000394703,NM_021145.3;DMTF1,missense_variant,p.Ser633Pro,ENST00000331242,NM_001142326.1,NM_001142327.1;DMTF1,missense_variant,p.Ser563Pro,ENST00000413276,;DMTF1,missense_variant,p.Ser545Pro,ENST00000432937,;DMTF1,missense_variant,p.Ser101Pro,ENST00000454008,;DMTF1,missense_variant,p.Ser83Pro,ENST00000582204,;TMEM243,downstream_gene_variant,,ENST00000433078,;TMEM243,downstream_gene_variant,,ENST00000257637,NM_024315.2;TMEM243,downstream_gene_variant,,ENST00000423734,;TMEM243,downstream_gene_variant,,ENST00000481425,;TMEM243,downstream_gene_variant,,ENST00000465976,;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,,ENST00000547146,;DMTF1,3_prime_UTR_variant,,ENST00000579850,;DMTF1,non_coding_transcript_exon_variant,,ENST00000488352,;DMTF1,non_coding_transcript_exon_variant,,ENST00000580010,;DMTF1,downstream_gene_variant,,ENST00000480982,;DMTF1,downstream_gene_variant,,ENST00000584619,;TMEM243,downstream_gene_variant,,ENST00000474074,;TMEM243,downstream_gene_variant,,ENST00000492231,;DMTF1,downstream_gene_variant,,ENST00000580803,;							MODERATE	1897/2283	S633P	DMTF1_HUMAN			Transcript		benign(0.262)	.	ENSP00000332171		CCDS5601.1			1	
CTDP1	0	LGGM	GRCh37	18	77475225	77475225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	1	2	.	.	ENST00000299543.7:c.1765C>A	p.His589Asn	p.H589N	ENST00000299543	NM_001202504.1	589	Cac/Aac	0	1	1	UPI000013C57B	0	NA	ENST00000299543		ENSG00000060069	2498		3	2.4		HGNC	p.H521N		CTDP1		SNV			1				ENST00000591598	protein_coding	getma.org/?cm=var&var=hg19,18,77475225,C,A&fts=all		hmmpanther:PTHR23081:SF0,hmmpanther:PTHR23081,Gene3D:3.40.50.1000		H/N		A	medium	1912/3753		getma.org/?cm=msa&ty=f&p=CTDP1_HUMAN&rb=538&re=636&var=H589N	deleterious(0)	K7EPW4_HUMAN			YES	CTDP1,missense_variant,p.His589Asn,ENST00000299543,NM_001202504.1,NM_004715.4;CTDP1,missense_variant,p.His589Asn,ENST00000075430,NM_048368.3;CTDP1,missense_variant,p.His521Asn,ENST00000591598,;							MODERATE	1765/2886	H589N	CTDP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000299543		CCDS12017.1			1	
GLIPR1L1	0	LGGM	GRCh37	12	75756881	75756881	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	14	3	.	.	ENST00000312442.2:c.522-1G>T		p.X174_splice	ENST00000312442	NM_152779.2			0	1		UPI0000D6221C	0		ENST00000378695		ENSG00000173401	28392		17			HGNC	-		GLIPR1L1		SNV							ENST00000378695	protein_coding							T		-/885								GLIPR1L1,splice_acceptor_variant,,ENST00000312442,NM_152779.2;GLIPR1L1,splice_acceptor_variant,,ENST00000378695,;CAPS2,intron_variant,,ENST00000442339,NM_001286549.1;CAPS2,intron_variant,,ENST00000436898,;CAPS2,intron_variant,,ENST00000552497,;CAPS2,intron_variant,,ENST00000551829,;GLIPR1L1,upstream_gene_variant,,ENST00000547144,;CAPS2,intron_variant,,ENST00000548958,;CAPS2,intron_variant,,ENST00000486196,;CAPS2,downstream_gene_variant,,ENST00000547320,;GLIPR1L1,upstream_gene_variant,,ENST00000548623,;CAPS2,intron_variant,,ENST00000328705,NM_001286548.1;CAPS2,intron_variant,,ENST00000336815,NM_001286549.1;							HIGH	522/729		GPRL1_HUMAN			Transcript			.	ENSP00000367967					1	
PRH1	0	LGGM	GRCh37	12	11035141	11035141	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	22	3	.	.	ENST00000428168.2:c.257C>A	p.Pro86His	p.P86H	ENST00000428168	NM_006250.3	86	cCt/cAt	0	1	1	UPI0000141771	0		ENST00000428168		ENSG00000231887	9366		25			HGNC	p.P86H		PRH1		SNV							ENST00000428168	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23203,Pfam_domain:PF15240		P/H		T		295/603			deleterious_low_confidence(0.05)				YES	PRH1,missense_variant,p.Pro86His,ENST00000428168,NM_006250.3;PRR4,non_coding_transcript_exon_variant,,ENST00000543626,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000538332,;PRR4,intron_variant,,ENST00000543480,;PRR4,downstream_gene_variant,,ENST00000541977,;							MODERATE	257/501					Transcript		unknown(0)	.	ENSP00000412436					1	
WARS2	0	LGGM	GRCh37	1	119575810	119575810	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	3	.	.	ENST00000235521.4:c.807C>A	p.Arg269=	p.R269=	ENST00000235521	NM_201263.2	269	cgC/cgA	0	1	1	UPI000004A002	0		ENST00000235521		ENSG00000116874	12730		28			HGNC	p.R269R		WARS2		SNV							ENST00000235521	protein_coding			Gene3D:1.10.240.10,HAMAP:MF_00140_B,Pfam_domain:PF00579,hmmpanther:PTHR10055,Superfamily_domains:SSF52374,TIGRFAM_domain:TIGR00233		R		T		834/2800				B7Z5X7_HUMAN			YES	WARS2,synonymous_variant,p.=,ENST00000235521,NM_201263.2,NM_015836.3;WARS2,synonymous_variant,p.=,ENST00000537870,;WARS2,3_prime_UTR_variant,,ENST00000369426,;WARS2,downstream_gene_variant,,ENST00000497402,;WARS2,downstream_gene_variant,,ENST00000495746,;							LOW	807/1083		SYWM_HUMAN			Transcript			.	ENSP00000235521		CCDS900.1			1	
PIGR	0	LGGM	GRCh37	1	207110498	207110498	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	18	3	.	.	ENST00000356495.4:c.987G>T	p.Ser329=	p.S329=	ENST00000356495	NM_002644.3	329	tcG/tcT	0	1	1	UPI000007407E	0		ENST00000356495		ENSG00000162896	8968		21			HGNC	p.S329S		PIGR		SNV							ENST00000356495	protein_coding			hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		A		1171/4279							YES	PIGR,synonymous_variant,p.=,ENST00000356495,NM_002644.3;PIGR,downstream_gene_variant,,ENST00000491503,;							LOW	987/2295		PIGR_HUMAN			Transcript			.	ENSP00000348888		CCDS1474.1			1	
TSPAN2	0	LGGM	GRCh37	1	115615588	115615588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	11	3	.	.	ENST00000369516.2:c.110G>T	p.Arg37Leu	p.R37L	ENST00000369516	NM_005725.4	37	cGg/cTg	0	1	1	UPI0000137765	0	NA	ENST00000369516		ENSG00000134198	20659		14	1.155		HGNC	p.R37L	rs760403770	TSPAN2	6.06E-05	SNV							ENST00000369514	protein_coding	getma.org/?cm=var&var=hg19,1,115615588,C,A&fts=all		Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF155		R/L		A	low	142/3177		getma.org/?cm=msa&ty=f&p=TSN2_HUMAN&rb=10&re=214&var=R37L	deleterious(0.02)				YES	TSPAN2,missense_variant,p.Arg37Leu,ENST00000369516,NM_005725.4;TSPAN2,missense_variant,p.Arg37Leu,ENST00000369515,;TSPAN2,missense_variant,p.Arg31Leu,ENST00000433172,;TSPAN2,missense_variant,p.Arg37Leu,ENST00000369514,;							MODERATE	110/666	R37L	TSN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000358529	8.24E-06	CCDS881.1			1	
SRCAP	0	LGGM	GRCh37	16	30750119	30750119	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	3	.	.	ENST00000262518.4:c.8758G>T	p.Gly2920Ter	p.G2920*	ENST00000262518	NM_006662.2	2920	Gga/Tga	0	1	1	UPI000059D368	0	NA	ENST00000262518		ENSG00000080603	16974		19	0		HGNC	p.G2920X		SRCAP		SNV			1				ENST00000262518	protein_coding	getma.org/?cm=var&var=hg19,16,30750119,G,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Low_complexity_(Seg):seg		G/*		T	NA	9143/10474		NA		G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,stop_gained,p.Gly2920Ter,ENST00000262518,NM_006662.2;SRCAP,stop_gained,p.Gly2858Ter,ENST00000395059,;SRCAP,stop_gained,p.Gly2762Ter,ENST00000344771,;RP11-2C24.4,upstream_gene_variant,,ENST00000483578,;SRCAP,stop_gained,p.Gly2743Ter,ENST00000380361,;SRCAP,downstream_gene_variant,,ENST00000474008,;							HIGH	8758/9693	G2920*	SRCAP_HUMAN			Transcript			.	ENSP00000262518		CCDS10689.2			1	
ZNF3	0	LGGM	GRCh37	7	99672763	99672763	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	29	3	.	.	ENST00000303915.6:c.266C>A	p.Ser89Ter	p.S89*	ENST00000303915		89	tCa/tAa	0	1		UPI000000D9B2	0	NA	ENST00000299667		ENSG00000166526	13089		32	0		HGNC	p.S53X		ZNF3		SNV							ENST00000441298	protein_coding	getma.org/?cm=var&var=hg19,7,99672763,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		S/*		T	NA	569/2799		NA		Q86U76_HUMAN,C9JK31_HUMAN,C9JIW8_HUMAN,C9JE35_HUMAN,C9J5S8_HUMAN				ZNF3,stop_gained,p.Ser89Ter,ENST00000303915,;ZNF3,stop_gained,p.Ser89Ter,ENST00000424697,NM_032924.4,NM_001278292.1,NM_001278291.1,NM_001278290.1,NM_001278287.1;ZNF3,stop_gained,p.Ser89Ter,ENST00000299667,;ZNF3,stop_gained,p.Ser89Ter,ENST00000413658,NM_017715.3;ZNF3,stop_gained,p.Ser89Ter,ENST00000428683,NM_001278284.1;ZNF3,stop_gained,p.Ser89Ter,ENST00000449785,;ZNF3,stop_gained,p.Ser53Ter,ENST00000412947,;ZNF3,stop_gained,p.Ser53Ter,ENST00000441298,;ZNF3,stop_gained,p.Ser89Ter,ENST00000415068,;ZNF3,downstream_gene_variant,,ENST00000292393,;ZNF3,non_coding_transcript_exon_variant,,ENST00000487620,;ZNF3,downstream_gene_variant,,ENST00000485892,;ZNF3,downstream_gene_variant,,ENST00000479192,;ZNF3,downstream_gene_variant,,ENST00000460331,;ZNF3,downstream_gene_variant,,ENST00000466121,;							HIGH	266/1341	S89*	ZNF3_HUMAN			Transcript			.	ENSP00000299667		CCDS43619.1			1	
MYH14	0	LGGM	GRCh37	19	50804965	50804965	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	6	3	.	.	ENST00000601313.1:c.5517C>T	p.Ala1839=	p.A1839=	ENST00000601313	NM_001145809.1	1839	gcC/gcT	0	1		UPI0000551C8C	0		ENST00000376970		ENSG00000105357	23212		9			HGNC	p.A1831A		MYH14		SNV			1				ENST00000376970	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318		A		T		5540/6886				F2Z2U8_HUMAN,A1L2Z2_HUMAN				MYH14,synonymous_variant,p.=,ENST00000440075,;MYH14,synonymous_variant,p.=,ENST00000601313,NM_001145809.1;MYH14,synonymous_variant,p.=,ENST00000376970,NM_024729.3;MYH14,synonymous_variant,p.=,ENST00000262269,;MYH14,synonymous_variant,p.=,ENST00000425460,NM_001077186.1;MYH14,synonymous_variant,p.=,ENST00000598205,;MYH14,synonymous_variant,p.=,ENST00000596571,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;							LOW	5493/6087					Transcript			.	ENSP00000366169					1	
ADAMTS16	0	LGGM	GRCh37	5	5232569	5232569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	15	3	.	.	ENST00000274181.7:c.1790C>A	p.Pro597Gln	p.P597Q	ENST00000274181	NM_139056.2	597	cCa/cAa	0	1	1	UPI00004572CA	0	getma.org/pdb.php?prot=ATS16_HUMAN&from=590&to=640&var=P597Q	ENST00000274181		ENSG00000145536	17108		18	1.305		HGNC	p.P597Q		ADAMTS16		SNV							ENST00000274181	protein_coding	getma.org/?cm=var&var=hg19,5,5232569,C,A&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,Prints_domain:PR01857,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF140,SMART_domains:SM00209,Superfamily_domains:SSF82895		P/Q		A	low	1928/4979		getma.org/?cm=msa&ty=f&p=ATS16_HUMAN&rb=590&re=640&var=P597Q	tolerated(0.39)	B2G3Q1_HUMAN			YES	ADAMTS16,missense_variant,p.Pro597Gln,ENST00000274181,NM_139056.2;ADAMTS16,upstream_gene_variant,,ENST00000513709,;ADAMTS16,non_coding_transcript_exon_variant,,ENST00000433402,;							MODERATE	1790/3675	P597Q	ATS16_HUMAN			Transcript		benign(0.068)	.	ENSP00000274181		CCDS43299.1			1	
KIF26B	0	LGGM	GRCh37	1	245850498	245850498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	3	.	.	ENST00000407071.2:c.4213C>A	p.Gln1405Lys	p.Q1405K	ENST00000407071	NM_018012.3	1405	Caa/Aaa	0	1	1	UPI0000695D71	0	NA	ENST00000407071		ENSG00000162849	25484		24	1.355		HGNC	p.Q1405K		KIF26B		SNV							ENST00000407071	protein_coding	getma.org/?cm=var&var=hg19,1,245850498,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363		Q/K		A	low	4653/7287		getma.org/?cm=msa&ty=f&p=KI26B_HUMAN&rb=809&re=1789&var=Q1405K	tolerated(0.32)	B4DF75_HUMAN			YES	KIF26B,missense_variant,p.Gln1024Lys,ENST00000366518,;KIF26B,missense_variant,p.Gln1405Lys,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;							MODERATE	4213/6327	Q1405K	KI26B_HUMAN			Transcript		unknown(0)	.	ENSP00000385545		CCDS44342.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110460428	110460428	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	3	.	.	ENST00000378402.5:c.5833G>T	p.Glu1945Ter	p.E1945*	ENST00000378402	NM_177531.4	1945	Gaa/Taa	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		28	0		HGNC	p.E1945X		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110460428,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,SMART_domains:SM00429,Superfamily_domains:SSF81296		E/*		T	NA	5937/13076		NA					YES	PKHD1L1,stop_gained,p.Glu1945Ter,ENST00000378402,NM_177531.4;							HIGH	5833/12732	E1945*	PKHL1_HUMAN			Transcript			.	ENSP00000367655		CCDS47911.1			1	
MSTO1	0	LGGM	GRCh37	1	155583518	155583518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	19	3	.	.	ENST00000245564.2:c.1459C>A	p.Pro487Thr	p.P487T	ENST00000245564	NM_018116.3	487	Cca/Aca	0	1	1	UPI000006F52F	0	NA	ENST00000245564		ENSG00000125459	29678		22	0		HGNC	p.P452T		MSTO1		SNV							ENST00000368341	protein_coding	getma.org/?cm=var&var=hg19,1,155583518,C,A&fts=all		hmmpanther:PTHR13391		P/T		A	neutral	1483/2431		getma.org/?cm=msa&ty=f&p=MSTO1_HUMAN&rb=303&re=502&var=P487T	tolerated(0.47)	D3DV95_HUMAN			YES	MSTO1,missense_variant,p.Pro487Thr,ENST00000245564,NM_018116.3,NM_001256532.1,NM_001256533.1;MSTO1,missense_variant,p.Pro452Thr,ENST00000368341,;MSTO1,missense_variant,p.Pro64Thr,ENST00000462250,;MSTO1,intron_variant,,ENST00000452804,;MSTO1,intron_variant,,ENST00000538143,;RP11-29H23.4,upstream_gene_variant,,ENST00000456382,;MSTO1,non_coding_transcript_exon_variant,,ENST00000483734,;MSTO1,non_coding_transcript_exon_variant,,ENST00000466815,;MSTO1,non_coding_transcript_exon_variant,,ENST00000475253,;MSTO1,downstream_gene_variant,,ENST00000488901,;MSTO1,downstream_gene_variant,,ENST00000491308,;MSTO1,downstream_gene_variant,,ENST00000465137,;MSTO1,downstream_gene_variant,,ENST00000473327,;MSTO1,downstream_gene_variant,,ENST00000483832,;MSTO1,downstream_gene_variant,,ENST00000490642,;MSTO1,3_prime_UTR_variant,,ENST00000490743,;MSTO1,non_coding_transcript_exon_variant,,ENST00000494995,;MSTO1,downstream_gene_variant,,ENST00000478756,;MSTO1,downstream_gene_variant,,ENST00000460199,;MSTO1,downstream_gene_variant,,ENST00000482284,;MSTO1,downstream_gene_variant,,ENST00000471209,;MSTO2P,intron_variant,,ENST00000538914,;RP11-29H23.5,downstream_gene_variant,,ENST00000500626,;							MODERATE	1459/1713	P487T	MSTO1_HUMAN			Transcript		benign(0.002)	.	ENSP00000245564		CCDS1114.1			1	
SLC6A16	0	LGGM	GRCh37	19	49793524	49793524	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	3	.	.	ENST00000335875.4:c.2067G>T	p.Arg689Ser	p.R689S	ENST00000335875	NM_014037.2	689	agG/agT	0	1	1	UPI00001305CE	0	NA	ENST00000335875		ENSG00000063127	13622		28	0.345		HGNC	p.R689S		SLC6A16		SNV							ENST00000335875	protein_coding	getma.org/?cm=var&var=hg19,19,49793524,C,A&fts=all		hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF48		R/S		A	neutral	2309/2938		getma.org/?cm=msa&ty=f&p=S6A16_HUMAN&rb=686&re=736&var=R689S	tolerated(0.26)	M0QYK3_HUMAN			YES	SLC6A16,missense_variant,p.Arg689Ser,ENST00000335875,NM_014037.2;SLC6A16,3_prime_UTR_variant,,ENST00000454748,;SLC6A16,downstream_gene_variant,,ENST00000598828,;SLC6A16,downstream_gene_variant,,ENST00000598221,;							MODERATE	2067/2211	R689S	S6A16_HUMAN			Transcript		benign(0.023)	.	ENSP00000338627		CCDS42590.1			1	
PRRC2B	0	LGGM	GRCh37	9	134357813	134357813	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	45	3	.	.	ENST00000357304.4:c.5039G>T	p.Arg1680Leu	p.R1680L	ENST00000357304	NM_013318.3	1680	cGg/cTg	0	1	1	UPI00002374A3	0	NA	ENST00000357304		ENSG00000130723	28121		48	1.61		HGNC	p.R1680L		PRRC2B		SNV							ENST00000357304	protein_coding	getma.org/?cm=var&var=hg19,9,134357813,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		R/L		T	low	5094/11042		getma.org/?cm=msa&ty=f&p=PRC2B_HUMAN&rb=1595&re=1794&var=R1680L	tolerated(0.15)	Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,missense_variant,p.Arg1680Leu,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Arg986Leu,ENST00000405995,;PRRC2B,missense_variant,p.Arg986Leu,ENST00000458550,;PRRC2B,missense_variant,p.Arg413Leu,ENST00000451855,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,upstream_gene_variant,,ENST00000320547,;SNORD62A,upstream_gene_variant,,ENST00000428514,NR_002914.1;							MODERATE	5039/6690	R1680L	PRC2B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349856		CCDS48044.1			1	
CDON	0	LGGM	GRCh37	11	125867291	125867291	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	8	3	.	.	ENST00000392693.3:c.2173G>T	p.Asp725Tyr	p.D725Y	ENST00000392693	NM_001243597.1	725	Gat/Tat	0	1	1	UPI0000E0013A	0	getma.org/pdb.php?prot=CDON_HUMAN&from=722&to=807&var=D725Y	ENST00000392693		ENSG00000064309	17104		11	2.43		HGNC	p.D725Y		CDON		SNV			1				ENST00000392693	protein_coding	getma.org/?cm=var&var=hg19,11,125867291,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR10489:SF12,hmmpanther:PTHR10489,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		D/Y		A	medium	2301/9138		getma.org/?cm=msa&ty=f&p=CDON_HUMAN&rb=722&re=807&var=D725Y	deleterious(0)	E9PRD8_HUMAN,E9PPQ7_HUMAN,E9PNF2_HUMAN			YES	CDON,missense_variant,p.Asp725Tyr,ENST00000392693,NM_001243597.1,NM_016952.4;CDON,missense_variant,p.Asp102Tyr,ENST00000531738,;CDON,missense_variant,p.Asp725Tyr,ENST00000263577,;							MODERATE	2173/3864	D725Y	CDON_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000376458		CCDS58192.1			1	
COPA	0	LGGM	GRCh37	1	160293223	160293223	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	15	3	.	.	ENST00000368069.3:c.704A>G	p.Asn235Ser	p.N235S	ENST00000368069		235	aAt/aGt	0	1		UPI000013CAD9	0	getma.org/pdb.php?prot=COPA_HUMAN&from=234&to=240&var=N235S	ENST00000241704		ENSG00000122218	2230		18	0.41		HGNC	p.N235S		COPA		SNV							ENST00000368069	protein_coding	getma.org/?cm=var&var=hg19,1,160293223,T,C&fts=all		Gene3D:2.130.10.10,PIRSF_domain:PIRSF003354,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,Superfamily_domains:SSF50978		N/S		C	neutral	934/4789		getma.org/?cm=msa&ty=f&p=COPA_HUMAN&rb=204&re=270&var=N235S	tolerated(0.6)					COPA,missense_variant,p.Asn235Ser,ENST00000241704,NM_004371.3,NM_001098398.1;COPA,missense_variant,p.Asn235Ser,ENST00000368069,;Y_RNA,downstream_gene_variant,,ENST00000365208,;							MODERATE	704/3675	N235S	COPA_HUMAN			Transcript		benign(0.027)	.	ENSP00000241704		CCDS1202.1			1	
TMCC2	0	LGGM	GRCh37	1	205241024	205241024	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	39	3	.	.	ENST00000358024.3:c.1902G>T	p.Val634=	p.V634=	ENST00000358024	NM_014858.3	634	gtG/gtT	0	1	1	UPI00002056FC	0		ENST00000358024		ENSG00000133069	24239		42			HGNC	p.V556V		TMCC2		SNV							ENST00000545499	protein_coding			Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9,Low_complexity_(Seg):seg		V		T		2291/3738							YES	TMCC2,synonymous_variant,p.=,ENST00000358024,NM_014858.3;TMCC2,synonymous_variant,p.=,ENST00000329800,;TMCC2,synonymous_variant,p.=,ENST00000330675,;TMCC2,synonymous_variant,p.=,ENST00000545499,NM_001242925.1;TMCC2,downstream_gene_variant,,ENST00000367159,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,non_coding_transcript_exon_variant,,ENST00000468846,;							LOW	1902/2130		TMCC2_HUMAN			Transcript			.	ENSP00000350718		CCDS30984.1			1	
YJU2B	0	LGGM	GRCh37	19	13873469	13873469	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	7	3	.	.	ENST00000586600.1:c.778C>A	p.Pro260Thr	p.P260T	ENST00000586600		260	Ccc/Acc	0	1		UPI0000071AFB	0	NA	ENST00000221554		ENSG00000104957	28118		10	0.95		HGNC	p.P211T		CCDC130		SNV							ENST00000586666	protein_coding	getma.org/?cm=var&var=hg19,19,13873469,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12111:SF2,hmmpanther:PTHR12111,Pfam_domain:PF04502		P/T		A	low	1155/1792		getma.org/?cm=msa&ty=f&p=CC130_HUMAN&rb=1&re=396&var=P260T	tolerated(0.1)	K7EPA5_HUMAN,K7ELI4_HUMAN				CCDC130,missense_variant,p.Pro260Thr,ENST00000586600,;CCDC130,missense_variant,p.Pro260Thr,ENST00000221554,NM_030818.2;CCDC130,missense_variant,p.Pro211Thr,ENST00000586666,;CCDC130,3_prime_UTR_variant,,ENST00000585844,;CCDC130,5_prime_UTR_variant,,ENST00000589669,;MRI1,upstream_gene_variant,,ENST00000319545,NM_032285.2;MRI1,upstream_gene_variant,,ENST00000040663,NM_001031727.2;MRI1,upstream_gene_variant,,ENST00000593245,;CCDC130,downstream_gene_variant,,ENST00000589096,;CCDC130,downstream_gene_variant,,ENST00000588809,;CCDC130,non_coding_transcript_exon_variant,,ENST00000587019,;CCDC130,non_coding_transcript_exon_variant,,ENST00000593174,;CCDC130,downstream_gene_variant,,ENST00000588071,;CCDC130,downstream_gene_variant,,ENST00000540216,;MRI1,upstream_gene_variant,,ENST00000591688,;MRI1,upstream_gene_variant,,ENST00000588526,;MRI1,upstream_gene_variant,,ENST00000589290,;							MODERATE	778/1191	P260T	CC130_HUMAN			Transcript		benign(0.243)	.	ENSP00000221554		CCDS12296.1			1	
GPR98	0	LGGM	GRCh37	5	89949443	89949443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	30	3	.	.	ENST00000405460.2:c.4052C>A	p.Thr1351Lys	p.T1351K	ENST00000405460	NM_032119.3	1351	aCa/aAa	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		33	1.5		HGNC	p.T1351K		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89949443,C,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF49899		T/K		A	low	4148/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1326&re=1496&var=T1351K					YES	GPR98,missense_variant,p.Thr1351Lys,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Thr940Lys,ENST00000504142,;							MODERATE	4052/18921	T1351K	GPR98_HUMAN			Transcript		benign(0.043)	.	ENSP00000384582		CCDS47246.1			1	
FBXW10B	0	LGGM	GRCh37	17	15469495	15469495	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	28	3	.	.	ENST00000312127.2:c.84C>A	p.Pro28=	p.P28=	ENST00000312127		28	ccC/ccA	0	1	1	UPI000006E357	0		ENST00000312127		ENSG00000181464	14379		31			Uniprot_gn	p.P28P		CDRT1		SNV							ENST00000312127	protein_coding			hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7		P		T		96/794				Q9BXD7_HUMAN			YES	CDRT1,synonymous_variant,p.=,ENST00000312127,;CDRT1,3_prime_UTR_variant,,ENST00000472534,;TVP23C,upstream_gene_variant,,ENST00000584811,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000522212,NM_001204478.1;TVP23C,upstream_gene_variant,,ENST00000428082,NM_001135036.1;TVP23C,upstream_gene_variant,,ENST00000438826,;TVP23C,upstream_gene_variant,,ENST00000225576,NM_145301.2;TVP23C,upstream_gene_variant,,ENST00000518321,;TVP23C,upstream_gene_variant,,ENST00000519970,;TVP23C,upstream_gene_variant,,ENST00000419890,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000557349,;TVP23C,upstream_gene_variant,,ENST00000523573,;TVP23C,upstream_gene_variant,,ENST00000521179,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000481756,;TVP23C-CDRT4,upstream_gene_variant,,ENST00000518506,;							LOW	84/732					Transcript			.	ENSP00000385268					1	
PIKFYVE	0	LGGM	GRCh37	2	209190244	209190244	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	3	.	.	ENST00000264380.4:c.2709A>C	p.Gln903His	p.Q903H	ENST00000264380	NM_015040.3	903	caA/caC	0	1	1	UPI0000366FD6	0	NA	ENST00000264380		ENSG00000115020	23785		16	1.61		HGNC	p.Q847H		PIKFYVE		SNV			1				ENST00000452564	protein_coding	getma.org/?cm=var&var=hg19,2,209190244,A,C&fts=all		hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353		Q/H		C	low	2867/9901		getma.org/?cm=msa&ty=f&p=FYV1_HUMAN&rb=868&re=1067&var=Q903H	deleterious_low_confidence(0.03)				YES	PIKFYVE,missense_variant,p.Gln903His,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Gln847His,ENST00000452564,;PIKFYVE,3_prime_UTR_variant,,ENST00000443896,;							MODERATE	2709/6297	Q903H	FYV1_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000264380		CCDS2382.1			1	
XIRP2	0	LGGM	GRCh37	2	167760306	167760306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	15	3	.	.	ENST00000409195.1:c.314G>A	p.Arg105His	p.R105H	ENST00000409195	NM_152381.5	105	cGc/cAc	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		18			HGNC	p.R105H	rs553364503,COSM441411,COSM441412	XIRP2	0.000787	SNV						0,1,1	ENST00000409756	protein_coding		A:0			R/H		A		403/12675				J3KNB1_HUMAN	A:0	A:0	YES	XIRP2,missense_variant,p.Arg105His,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg105His,ENST00000295237,;XIRP2,missense_variant,p.Arg105His,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Arg105His,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Arg105His,ENST00000409756,;XIRP2,missense_variant,p.Arg105His,ENST00000420519,;		A:0.0002			0,1,1		MODERATE	314/10650				A:0	Transcript		benign(0.135)	common_variant	ENSP00000386840	0.000116	CCDS42769.1	0.00111	A:0.001	1	
CXXC5	0	LGGM	GRCh37	5	139060474	139060474	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	35	3	.	.	ENST00000302517.3:c.366G>T	p.Ala122=	p.A122=	ENST00000302517	NM_016463.7	122	gcG/gcT	0	1	1	UPI000003779E	0		ENST00000302517		ENSG00000171604	26943		38			HGNC	p.A122A		CXXC5		SNV							ENST00000520967	protein_coding			hmmpanther:PTHR13419:SF2,hmmpanther:PTHR13419		A		T		1080/2658				E7EVI8_HUMAN,E7EV55_HUMAN,D6RIR8_HUMAN,D6RHG9_HUMAN,D6RHC6_HUMAN,D6RDY2_HUMAN,D6RCN9_HUMAN,D6RBE0_HUMAN,D6R9V1_HUMAN,D6R966_HUMAN			YES	CXXC5,synonymous_variant,p.=,ENST00000302517,NM_016463.7;CXXC5,synonymous_variant,p.=,ENST00000511048,;CXXC5,synonymous_variant,p.=,ENST00000502716,;CXXC5,synonymous_variant,p.=,ENST00000520967,;CXXC5,synonymous_variant,p.=,ENST00000511457,;CXXC5,synonymous_variant,p.=,ENST00000504844,;CXXC5,downstream_gene_variant,,ENST00000502336,;CXXC5,downstream_gene_variant,,ENST00000504944,;CXXC5,downstream_gene_variant,,ENST00000512816,;CXXC5,downstream_gene_variant,,ENST00000509238,;CXXC5,downstream_gene_variant,,ENST00000503511,;CXXC5,downstream_gene_variant,,ENST00000502295,;CXXC5,downstream_gene_variant,,ENST00000507139,;CXXC5,downstream_gene_variant,,ENST00000511591,;CTB-35F21.1,upstream_gene_variant,,ENST00000515296,;CXXC5,upstream_gene_variant,,ENST00000515038,;CXXC5,upstream_gene_variant,,ENST00000505812,;							LOW	366/969		CXXC5_HUMAN			Transcript			.	ENSP00000302543		CCDS43370.1			1	
EIF4G3	0	LGGM	GRCh37	1	21268282	21268282	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	29	3	.	.	ENST00000602326.1:c.1215G>T	p.Leu405=	p.L405=	ENST00000602326	NM_001198802.1	405	ctG/ctT	0	1		UPI0000070825	0		ENST00000264211		ENSG00000075151	3298		32			HGNC	p.L525L		EIF4G3		SNV							ENST00000356916	protein_coding			hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		L		A		1392/5802				F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,synonymous_variant,p.=,ENST00000602326,NM_001198802.1;EIF4G3,synonymous_variant,p.=,ENST00000400422,NM_001198801.1;EIF4G3,synonymous_variant,p.=,ENST00000264211,NM_003760.4;EIF4G3,synonymous_variant,p.=,ENST00000374937,;EIF4G3,synonymous_variant,p.=,ENST00000536266,;EIF4G3,synonymous_variant,p.=,ENST00000356916,NM_001198803.1;EIF4G3,synonymous_variant,p.=,ENST00000374927,;EIF4G3,intron_variant,,ENST00000374935,;EIF4G3,upstream_gene_variant,,ENST00000544689,;EIF4G3,upstream_gene_variant,,ENST00000374933,;EIF4G3,upstream_gene_variant,,ENST00000485722,;							LOW	1197/4758		IF4G3_HUMAN			Transcript			.	ENSP00000264211		CCDS214.1			1	
FAM153A	0	LGGM	GRCh37	5	177164076	177164076	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	40	3	.	.	ENST00000440605.3:c.369G>T	p.Gln123His	p.Q123H	ENST00000440605	NM_173663.3	123	caG/caT	0	1		UPI0000D616C5	0	NA	ENST00000360669		ENSG00000170074	29940		43	0.695		HGNC	p.Q123H		FAM153A		SNV							ENST00000360669	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,5,177164076,C,A&fts=all				Q/H		A	neutral	442/4499		getma.org/?cm=msa&ty=f&p=F153A_HUMAN&rb=1&re=308&var=Q123H	deleterious_low_confidence(0)	D6RA46_HUMAN				FAM153A,missense_variant,p.Gln123His,ENST00000440605,NM_173663.3;FAM153A,missense_variant,p.Gln123His,ENST00000510276,;FAM153A,intron_variant,,ENST00000513554,;FAM153A,intron_variant,,ENST00000393518,;FAM153A,intron_variant,,ENST00000505531,;FAM153A,downstream_gene_variant,,ENST00000504518,;FAM153A,non_coding_transcript_exon_variant,,ENST00000512612,;FAM153A,downstream_gene_variant,,ENST00000505683,;FAM153A,downstream_gene_variant,,ENST00000503909,;FAM153A,missense_variant,p.Gln123His,ENST00000360669,;FAM153A,3_prime_UTR_variant,,ENST00000515787,;FAM153A,downstream_gene_variant,,ENST00000503845,;							MODERATE	369/933	Q123H	F153A_HUMAN			Transcript		benign(0.387)	.	ENSP00000353887		CCDS34305.1			1	
DIS3	0	LGGM	GRCh37	13	73333940	73333940	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	10	3	.	.	ENST00000377767.4:c.2870G>A	p.Gly957Glu	p.G957E	ENST00000377767	NM_014953.3	957	gGa/gAa	0	1	1	UPI0000141B79	0	NA	ENST00000377767		ENSG00000083520	20604		13	-0.69		HGNC	p.G957E		DIS3		SNV							ENST00000377767	protein_coding	getma.org/?cm=var&var=hg19,13,73333940,C,T&fts=all		Low_complexity_(Seg):seg		G/E		T	neutral	2971/7371		getma.org/?cm=msa&ty=f&p=RRP44_HUMAN&rb=797&re=958&var=G957E	tolerated_low_confidence(1)	G3V1J5_HUMAN,B3KM83_HUMAN			YES	DIS3,missense_variant,p.Gly957Glu,ENST00000377767,NM_014953.3;DIS3,missense_variant,p.Gly927Glu,ENST00000377780,NM_001128226.1;DIS3,missense_variant,p.Gly795Glu,ENST00000545453,;BORA,downstream_gene_variant,,ENST00000390667,NM_024808.2,NM_001286746.1;BORA,downstream_gene_variant,,ENST00000377815,NM_001286747.1;DIS3,intron_variant,,ENST00000469339,;DIS3,3_prime_UTR_variant,,ENST00000490646,;							MODERATE	2870/2877	G957E	RRP44_HUMAN			Transcript		unknown(0)	.	ENSP00000366997		CCDS9447.1			1	
MMS19	0	LGGM	GRCh37	10	99240693	99240693	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	37	3	.	.	ENST00000438925.2:c.262+6G>T		p.X88_splice	ENST00000438925	NM_022362.4			0	1		UPI000013DDF7	0		ENST00000370782		ENSG00000155229	13824		40			HGNC	p.G88C		MMS19		SNV							ENST00000448660	protein_coding							A		-/3532								MMS19,splice_region_variant,,ENST00000438925,NM_022362.4;MMS19,splice_region_variant,,ENST00000370782,;MMS19,splice_region_variant,,ENST00000327277,;MMS19,splice_region_variant,,ENST00000355839,;MMS19,splice_region_variant,,ENST00000327238,;MMS19,splice_region_variant,,ENST00000437002,;MMS19,splice_region_variant,,ENST00000422685,;AL355490.2,upstream_gene_variant,,ENST00000577864,;MMS19,splice_region_variant,,ENST00000483626,;MMS19,missense_variant,p.Gly88Cys,ENST00000448660,;MMS19,splice_region_variant,,ENST00000415383,;MMS19,splice_region_variant,,ENST00000477575,;MMS19,splice_region_variant,,ENST00000441194,;MMS19,splice_region_variant,,ENST00000439048,;							LOW	-/3093		MMS19_HUMAN			Transcript			.	ENSP00000359818		CCDS7464.1			1	
FCGR3A	0	LGGM	GRCh37	1	161514539	161514539	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	37	3	.	.	ENST00000367969.3:c.637G>T	p.Gly213Trp	p.G213W	ENST00000367969	NM_000569.6	213	Ggg/Tgg	0	1		UPI000004A8C6	0	getma.org/pdb.php?prot=FCG3A_HUMAN&from=108&to=190&var=G177W	ENST00000367967		ENSG00000203747	3619		40	2.125		HGNC	p.G212W		FCGR3A		SNV							ENST00000443193	protein_coding	getma.org/?cm=var&var=hg19,1,161514539,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF14,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/W		A	medium	634/2086		getma.org/?cm=msa&ty=f&p=FCG3A_HUMAN&rb=108&re=190&var=G177W	deleterious(0)	Q9UN20_HUMAN				FCGR3A,missense_variant,p.Gly213Trp,ENST00000367969,NM_000569.6;FCGR3A,missense_variant,p.Gly212Trp,ENST00000443193,NM_001127592.1;FCGR3A,missense_variant,p.Gly177Trp,ENST00000436743,NM_001127596.1,NM_001127595.1,NM_001127593.1;FCGR3A,missense_variant,p.Gly177Trp,ENST00000367967,;FCGR3A,missense_variant,p.Gly194Trp,ENST00000426740,;FCGR3A,missense_variant,p.Gly177Trp,ENST00000540048,;FCGR3A,downstream_gene_variant,,ENST00000442336,;RP11-25K21.6,intron_variant,,ENST00000537821,;FCGR3A,downstream_gene_variant,,ENST00000476031,;							MODERATE	529/765	G177W	FCG3A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356944		CCDS44266.1			1	
HHAT	0	LGGM	GRCh37	1	210578008	210578008	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	26	3	.	.	ENST00000545154.1:c.672G>T	p.Ser224=	p.S224=	ENST00000545154	NM_001170587.1	224	tcG/tcT	0	1		UPI000004A086	0		ENST00000261458		ENSG00000054392	18270		29			HGNC	p.S223S		HHAT		SNV			1				ENST00000367010	protein_coding			Pfam_domain:PF03062,hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF20		S		T		864/3594				F5H2Y1_HUMAN,B1AK61_HUMAN				HHAT,synonymous_variant,p.=,ENST00000367010,NM_001170580.1;HHAT,synonymous_variant,p.=,ENST00000261458,NM_018194.4;HHAT,synonymous_variant,p.=,ENST00000413764,NM_001122834.2;HHAT,synonymous_variant,p.=,ENST00000545154,NM_001170587.1;HHAT,synonymous_variant,p.=,ENST00000537898,NM_001170588.1;HHAT,synonymous_variant,p.=,ENST00000391905,;HHAT,synonymous_variant,p.=,ENST00000308852,;HHAT,synonymous_variant,p.=,ENST00000545781,;HHAT,synonymous_variant,p.=,ENST00000426968,;HHAT,intron_variant,,ENST00000541565,NM_001170564.1;							LOW	669/1482		HHAT_HUMAN			Transcript			.	ENSP00000261458		CCDS1495.1			1	
ADAMTS17	0	LGGM	GRCh37	15	100649258	100649258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	3	.	.	ENST00000268070.4:c.1952G>T	p.Arg651Met	p.R651M	ENST00000268070	NM_139057.2	651	aGg/aTg	0	1	1	UPI00001AE929	0	getma.org/pdb.php?prot=ATS17_HUMAN&from=598&to=706&var=R651M	ENST00000268070		ENSG00000140470	17109		16	1.32		HGNC	p.R651M		ADAMTS17		SNV			1				ENST00000268070	protein_coding	getma.org/?cm=var&var=hg19,15,100649258,C,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF31		R/M		A	low	2058/6207		getma.org/?cm=msa&ty=f&p=ATS17_HUMAN&rb=598&re=706&var=R651M	deleterious(0.01)				YES	ADAMTS17,missense_variant,p.Arg651Met,ENST00000268070,NM_139057.2;ADAMTS17,missense_variant,p.Arg19Met,ENST00000568565,;ADAMTS17,non_coding_transcript_exon_variant,,ENST00000378898,;							MODERATE	1952/3288	R651M	ATS17_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000268070		CCDS10383.1			1	
IFT140	0	LGGM	GRCh37	16	1621407	1621407	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	4	.	.	ENST00000426508.2:c.1652+1G>T		p.X551_splice	ENST00000426508	NM_014714.3			0	1	1	UPI0000073C64	0		ENST00000426508		ENSG00000187535	29077		17			HGNC	-		IFT140		SNV			1				ENST00000426508	protein_coding							A		-/5270				Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN			YES	IFT140,splice_donor_variant,,ENST00000426508,NM_014714.3;IFT140,splice_donor_variant,,ENST00000439987,;IFT140,splice_donor_variant,,ENST00000565298,;IFT140,splice_donor_variant,,ENST00000397417,;							HIGH	1652/4389		IF140_HUMAN			Transcript			.	ENSP00000406012		CCDS10439.1			1	
KHSRP	0	LGGM	GRCh37	19	6418757	6418757	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	14	4	.	.	ENST00000398148.3:c.736G>T	p.Gly246Cys	p.G246C	ENST00000398148	NM_003685.2	246	Ggc/Tgc	0	1	1	UPI000049DE96	0	getma.org/pdb.php?prot=FUBP2_HUMAN&from=235&to=299&var=G246C	ENST00000398148		ENSG00000088247	6316		18	3.98		HGNC	p.G102C		KHSRP		SNV							ENST00000595548	protein_coding	getma.org/?cm=var&var=hg19,19,6418757,C,A&fts=all		Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF101,SMART_domains:SM00322,Superfamily_domains:SSF54791		G/C		A	high	829/2993		getma.org/?cm=msa&ty=f&p=FUBP2_HUMAN&rb=235&re=299&var=G246C	deleterious(0.01)	M0QYH3_HUMAN,M0QXW7_HUMAN			YES	KHSRP,missense_variant,p.Gly246Cys,ENST00000398148,NM_003685.2;KHSRP,missense_variant,p.Gly165Cys,ENST00000599395,;KHSRP,missense_variant,p.Gly102Cys,ENST00000595548,;KHSRP,missense_variant,p.Gly102Cys,ENST00000595258,;KHSRP,upstream_gene_variant,,ENST00000594496,;KHSRP,upstream_gene_variant,,ENST00000595223,;KHSRP,upstream_gene_variant,,ENST00000600480,;KHSRP,upstream_gene_variant,,ENST00000594745,;KHSRP,upstream_gene_variant,,ENST00000597656,;MIR3940,upstream_gene_variant,,ENST00000579148,;KHSRP,non_coding_transcript_exon_variant,,ENST00000595112,;KHSRP,downstream_gene_variant,,ENST00000597704,;KHSRP,upstream_gene_variant,,ENST00000599642,;							MODERATE	736/2136	G246C	FUBP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000381216		CCDS45936.1			1	
CR1	0	LGGM	GRCh37	1	207700233	207700233	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	86	4	.	.	ENST00000367049.4:c.1022C>A	p.Thr341Lys	p.T341K	ENST00000367049	NM_000651.4	341	aCa/aAa	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=297&to=353&var=T341K	ENST00000367051		ENSG00000203710	2334		90	2.38		HGNC	p.T341K		CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207700233,C,A&fts=all						A	medium	-/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=297&re=353&var=T341K		Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Thr341Lys,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Thr341Lys,ENST00000367053,;CR1,missense_variant,p.Thr341Lys,ENST00000367052,;CR1,missense_variant,p.Thr341Lys,ENST00000400960,NM_000573.3;CR1,intron_variant,,ENST00000367051,;CR1,intron_variant,,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;CR1,intron_variant,,ENST00000367050,;CR1,non_coding_transcript_exon_variant,,ENST00000434033,;CR1,intron_variant,,ENST00000450439,;CR1,intron_variant,,ENST00000436595,;							MODIFIER	-/6120	T341K	CR1_HUMAN			Transcript			.	ENSP00000356018					1	
KNG1	0	LGGM	GRCh37	3	186459659	186459659	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	11	4	.	.	ENST00000265023.4:c.1474G>A	p.Asp492Asn	p.D492N	ENST00000265023	NM_001102416.2	492	Gac/Aac	0	1	1	UPI000013D5AC	0	NA	ENST00000265023		ENSG00000113889	6383		15	0.69		HGNC	p.D492N		KNG1		SNV			1				ENST00000265023	protein_coding	getma.org/?cm=var&var=hg19,3,186459659,G,A&fts=all		hmmpanther:PTHR13814,hmmpanther:PTHR13814:SF9		D/N		A	neutral	1686/3435		getma.org/?cm=msa&ty=f&p=KNG1_HUMAN&rb=361&re=560&var=D492N	tolerated(0.3)				YES	KNG1,missense_variant,p.Asp492Asn,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,;							MODERATE	1474/1935	D492N	KNG1_HUMAN			Transcript		benign(0.002)	.	ENSP00000265023		CCDS43183.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121651048	121651048	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	4	.	.	ENST00000393386.2:c.1948G>T	p.Gly650Ter	p.G650*	ENST00000393386	NM_001206838.1	650	Gga/Tga	0	1	1	UPI000020F9BB	0	NA	ENST00000393386		ENSG00000106278	9685		17	0		HGNC	p.G650X		PTPRZ1		SNV							ENST00000393386	protein_coding	getma.org/?cm=var&var=hg19,7,121651048,G,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214		G/*		T	NA	2359/8175		NA					YES	PTPRZ1,stop_gained,p.Gly650Ter,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,stop_gained,p.Gly650Ter,ENST00000449182,NM_001206839.1;PTPRZ1,upstream_gene_variant,,ENST00000483028,;							HIGH	1948/6948	G650*	PTPRZ_HUMAN			Transcript			.	ENSP00000377047		CCDS34740.1			1	
SRGAP3	0	LGGM	GRCh37	3	9100144	9100144	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	15	4	.	.	ENST00000383836.3:c.814G>T	p.Gly272Cys	p.G272C	ENST00000383836	NM_014850.3	272	Ggc/Tgc	0	1	1	UPI0000074099	0	NA	ENST00000383836		ENSG00000196220	19744		19	3.005		HGNC	p.G272C		SRGAP3		SNV			1				ENST00000383836	protein_coding	getma.org/?cm=var&var=hg19,3,9100144,C,A&fts=all		hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Superfamily_domains:SSF103657		G/C		A	medium	1242/8656		getma.org/?cm=msa&ty=f&p=SRGP3_HUMAN&rb=201&re=400&var=G272C	deleterious(0)				YES	SRGAP3,missense_variant,p.Gly272Cys,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Gly272Cys,ENST00000360413,NM_001033117.2;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,downstream_gene_variant,,ENST00000480750,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000485983,;SRGAP3,downstream_gene_variant,,ENST00000470951,;							MODERATE	814/3300	G272C	SRGP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000373347		CCDS2572.1			1	
CDK15	0	LGGM	GRCh37	2	202700461	202700461	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	4	.	.	ENST00000450471.2:c.826G>A	p.Glu276Lys	p.E276K	ENST00000450471	NM_001261435.1	276	Gaa/Aaa	0	1	1	UPI0001D3BDAF	0	getma.org/pdb.php?prot=CDK15_HUMAN&from=103&to=387&var=E276K	ENST00000450471		ENSG00000138395	14434		17	-0.215		HGNC	p.E276K		CDK15		SNV							ENST00000434439	protein_coding	getma.org/?cm=var&var=hg19,2,202700461,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF159,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/K		A	neutral	912/3659		getma.org/?cm=msa&ty=f&p=CDK15_HUMAN&rb=103&re=387&var=E276K	deleterious(0.04)				YES	CDK15,missense_variant,p.Glu276Lys,ENST00000450471,NM_001261435.1;CDK15,missense_variant,p.Glu276Lys,ENST00000434439,NM_001261436.1;CDK15,missense_variant,p.Glu225Lys,ENST00000410091,;CDK15,missense_variant,p.Glu225Lys,ENST00000260967,NM_139158.2;CDK15,missense_variant,p.Glu276Lys,ENST00000374598,;CDK15,non_coding_transcript_exon_variant,,ENST00000488419,;CDK15,3_prime_UTR_variant,,ENST00000451080,;							MODERATE	826/1290	E276K	CDK15_HUMAN			Transcript		benign(0.015)	.	ENSP00000406472		CCDS58747.1			1	
PAK1IP1	0	LGGM	GRCh37	6	10704812	10704812	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	9	4	.	.	ENST00000379568.3:c.569A>G	p.Tyr190Cys	p.Y190C	ENST00000379568	NM_017906.2	190	tAt/tGt	0	1	1	UPI000013CB73	0	NA	ENST00000379568		ENSG00000111845	20882		13	3.015		HGNC	p.Y190C	rs762291816	PAK1IP1		SNV				0.000122			ENST00000379568	protein_coding	getma.org/?cm=var&var=hg19,6,10704812,A,G&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF345,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		Y/C		G	medium	860/1800	2.21E-05	getma.org/?cm=msa&ty=f&p=PK1IP_HUMAN&rb=152&re=234&var=Y190C	deleterious(0)				YES	PAK1IP1,missense_variant,p.Tyr190Cys,ENST00000379568,NM_017906.2;							MODERATE	569/1179	Y190C	PK1IP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368887	1.65E-05	CCDS34339.1			1	
PTGES3L	0	LGGM	GRCh37	17	41121185	41121185	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	7	4	.	.	ENST00000409446.3:c.466G>A	p.Asp156Asn	p.D156N	ENST00000409446	NM_001142654.1	156	Gat/Aat	0	1		UPI0002840F5A	0	NA	ENST00000451885		ENSG00000267060	43943		11	0		HGNC	p.D161N		PTGES3L		SNV							ENST00000453594	protein_coding	getma.org/?cm=var&var=hg19,17,41121185,C,T&fts=all		Low_complexity_(Seg):seg		D/N		T	neutral	379/557		getma.org/?cm=msa&ty=f&p=B9A003_HUMAN&rb=112&re=161&var=D156N	tolerated(0.16)	C9JG77_HUMAN				PTGES3L,missense_variant,p.Asp161Asn,ENST00000453594,NM_001261430.1,NM_001142653.1;PTGES3L,missense_variant,p.Asp156Asn,ENST00000409446,NM_001142654.1;PTGES3L,missense_variant,p.Asp123Asn,ENST00000424284,;PTGES3L,missense_variant,p.Asp159Asn,ENST00000591916,;PTGES3L,missense_variant,p.Asp127Asn,ENST00000451885,;PTGES3L-AARSD1,intron_variant,,ENST00000421990,NM_001136042.2;PTGES3L-AARSD1,intron_variant,,ENST00000409399,;PTGES3L-AARSD1,intron_variant,,ENST00000360221,NM_025267.3;PTGES3L-AARSD1,intron_variant,,ENST00000409103,;PTGES3L-AARSD1,intron_variant,,ENST00000454303,;PTGES3L-AARSD1,intron_variant,,ENST00000452752,;AARSD1,upstream_gene_variant,,ENST00000427569,NM_001261434.1;AARSD1,upstream_gene_variant,,ENST00000430739,;AARSD1,upstream_gene_variant,,ENST00000416949,;PTGES3L,non_coding_transcript_exon_variant,,ENST00000462157,;PTGES3L,non_coding_transcript_exon_variant,,ENST00000464183,;PTGES3L-AARSD1,intron_variant,,ENST00000423601,;AARSD1,upstream_gene_variant,,ENST00000441280,;AARSD1,upstream_gene_variant,,ENST00000450475,;AARSD1,upstream_gene_variant,,ENST00000591910,;AARSD1,upstream_gene_variant,,ENST00000436545,;AARSD1,upstream_gene_variant,,ENST00000492036,;							MODERATE	379/399	D156N				Transcript		possibly_damaging(0.539)	.	ENSP00000404440					1	
DHX38	0	LGGM	GRCh37	16	72137857	72137857	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	9	4	.	.	ENST00000268482.3:c.1837A>G	p.Ile613Val	p.I613V	ENST00000268482	NM_014003.3	613	Atc/Gtc	0	1	1	UPI000002FBFE	0	getma.org/pdb.php?prot=PRP16_HUMAN&from=535&to=694&var=I613V	ENST00000268482		ENSG00000140829	17211		13	1.215		HGNC	p.I613V		DHX38		SNV							ENST00000268482	protein_coding	getma.org/?cm=var&var=hg19,16,72137857,A,G&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR18934:SF91,hmmpanther:PTHR18934,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540		I/V		G	low	2346/4608		getma.org/?cm=msa&ty=f&p=PRP16_HUMAN&rb=535&re=694&var=I613V	deleterious(0)	H3BV01_HUMAN,H3BQT9_HUMAN,B4DN69_HUMAN,B4DM30_HUMAN			YES	DHX38,missense_variant,p.Ile613Val,ENST00000268482,NM_014003.3;DHX38,intron_variant,,ENST00000536867,;DHX38,upstream_gene_variant,,ENST00000567142,;DHX38,upstream_gene_variant,,ENST00000563819,;DHX38,upstream_gene_variant,,ENST00000562774,;DHX38,non_coding_transcript_exon_variant,,ENST00000569935,;DHX38,intron_variant,,ENST00000579387,;DHX38,upstream_gene_variant,,ENST00000567552,;DHX38,downstream_gene_variant,,ENST00000563650,;DHX38,downstream_gene_variant,,ENST00000564307,;DHX38,downstream_gene_variant,,ENST00000566329,;DHX38,upstream_gene_variant,,ENST00000569952,;DHX38,upstream_gene_variant,,ENST00000564622,;							MODERATE	1837/3684	I613V	PRP16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000268482		CCDS10907.1			1	
IFT140	0	LGGM	GRCh37	16	1621408	1621408	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	4	.	.	ENST00000426508.2:c.1652G>T	p.Arg551Ile	p.R551I	ENST00000426508	NM_014714.3	551	aGa/aTa	0	1	1	UPI0000073C64	0	NA	ENST00000426508		ENSG00000187535	29077		17	2.695		HGNC	p.R551I		IFT140		SNV			1				ENST00000426508	protein_coding	getma.org/?cm=var&var=hg19,16,1621408,C,A&fts=all		hmmpanther:PTHR15722,Superfamily_domains:SSF50978		R/I		A	medium	2016/5270		getma.org/?cm=msa&ty=f&p=IF140_HUMAN&rb=532&re=731&var=R551I	deleterious(0)	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN			YES	IFT140,missense_variant,p.Arg551Ile,ENST00000426508,NM_014714.3;IFT140,splice_region_variant,,ENST00000439987,;IFT140,splice_region_variant,,ENST00000565298,;IFT140,splice_region_variant,,ENST00000397417,;							MODERATE	1652/4389	R551I	IF140_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000406012		CCDS10439.1			1	
FOXK1	0	LGGM	GRCh37	7	4794193	4794193	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	3	4	.	.	ENST00000328914.4:c.850G>T	p.Ala284Ser	p.A284S	ENST00000328914	NM_001037165.1	284	Gca/Tca	0	1	1	UPI00004158EB	0	NA	ENST00000328914		ENSG00000164916	23480		7	1.65		HGNC	p.A284S		FOXK1		SNV							ENST00000328914	protein_coding	getma.org/?cm=var&var=hg19,7,4794193,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829		A/S		T	low	850/11181		getma.org/?cm=msa&ty=f&p=FOXK1_HUMAN&rb=194&re=304&var=A284S	tolerated(0.17)	B3KV39_HUMAN			YES	FOXK1,missense_variant,p.Ala284Ser,ENST00000328914,NM_001037165.1;FOXK1,missense_variant,p.Ala121Ser,ENST00000446823,;FOXK1,missense_variant,p.Ala91Ser,ENST00000460979,;FOXK1,upstream_gene_variant,,ENST00000496023,;							MODERATE	850/2202	A284S	FOXK1_HUMAN			Transcript		possibly_damaging(0.638)	.	ENSP00000328720		CCDS34591.1			1	
AGBL1	0	LGGM	GRCh37	15	87097626	87097626	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	17	4	.	.	ENST00000441037.2:c.2714C>G	p.Ala905Gly	p.A905G	ENST00000441037	NM_152336.2	905	gCa/gGa	0	1	1	UPI0000EC9CE0	0	NA	ENST00000441037		ENSG00000166748	26504		21	1.59		HGNC	p.A905G		AGBL1		SNV			1				ENST00000441037	protein_coding	getma.org/?cm=var&var=hg19,15,87097626,C,G&fts=all		Pfam_domain:PF00246,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF53187		A/G		G	low	2809/3508		getma.org/?cm=msa&ty=f&p=CBPC4_HUMAN&rb=699&re=967&var=A905G	deleterious(0)	J3KQF5_HUMAN			YES	AGBL1,missense_variant,p.Ala905Gly,ENST00000441037,NM_152336.2;AGBL1,missense_variant,p.Ala905Gly,ENST00000421325,;AGBL1,missense_variant,p.Ala636Gly,ENST00000389298,;							MODERATE	2714/3201	A905G	CBPC4_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000413001		CCDS58398.1			1	
HYOU1	0	LGGM	GRCh37	11	118919520	118919520	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	8	4	.	.	ENST00000404233.3:c.2071A>G	p.Arg691Gly	p.R691G	ENST00000404233	NM_001130991.1	691	Agg/Ggg	0	1	1	UPI0000130F72	0	NA	ENST00000404233		ENSG00000149428	16931		12	1.385		HGNC	p.R629G		HYOU1		SNV							ENST00000525859	protein_coding	getma.org/?cm=var&var=hg19,11,118919520,T,C&fts=all		hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375,Pfam_domain:PF00012		R/G		C	low	2196/4530		getma.org/?cm=msa&ty=f&p=HYOU1_HUMAN&rb=35&re=814&var=R691G	deleterious(0.01)	J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN			YES	HYOU1,missense_variant,p.Arg691Gly,ENST00000404233,NM_001130991.1,NM_006389.3;HYOU1,missense_variant,p.Arg629Gly,ENST00000529972,;HYOU1,missense_variant,p.Arg629Gly,ENST00000525859,;HYOU1,3_prime_UTR_variant,,ENST00000543287,;HYOU1,downstream_gene_variant,,ENST00000530473,;RP11-110I1.6,downstream_gene_variant,,ENST00000531886,;HYOU1,3_prime_UTR_variant,,ENST00000532519,;HYOU1,non_coding_transcript_exon_variant,,ENST00000531682,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,upstream_gene_variant,,ENST00000527738,;							MODERATE	2071/3000	R691G	HYOU1_HUMAN			Transcript		benign(0.348)	.	ENSP00000384144		CCDS8408.1			1	
GTDC1	0	LGGM	GRCh37	2	144765094	144765094	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	4	.	.	ENST00000392869.2:c.530C>A	p.Pro177His	p.P177H	ENST00000392869	NM_001284234.1	177	cCc/cAc	0	1		UPI000022BC3B	0	NA	ENST00000344850		ENSG00000121964	20887		17	2.135		HGNC	p.P177H		GTDC1		SNV							ENST00000542155	protein_coding	getma.org/?cm=var&var=hg19,2,144765094,G,T&fts=all		hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF1		P/H		T	medium	724/2607		getma.org/?cm=msa&ty=f&p=GTDC1_HUMAN&rb=168&re=280&var=P177H	deleterious(0)	G5EA49_HUMAN,G1UFN1_HUMAN,C9JIH3_HUMAN,C9J2C5_HUMAN				GTDC1,missense_variant,p.Pro177His,ENST00000392869,NM_001284234.1;GTDC1,missense_variant,p.Pro177His,ENST00000409214,NM_001006636.3,NM_001284234.1;GTDC1,missense_variant,p.Pro177His,ENST00000542155,NM_001164629.2;GTDC1,missense_variant,p.Pro177His,ENST00000344850,;GTDC1,missense_variant,p.Pro177His,ENST00000392867,NM_024659.4;GTDC1,missense_variant,p.Pro177His,ENST00000241391,;GTDC1,missense_variant,p.Pro48His,ENST00000463875,;GTDC1,intron_variant,,ENST00000409298,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,missense_variant,p.Pro177His,ENST00000392871,NM_001284233.1;GTDC1,3_prime_UTR_variant,,ENST00000415569,NM_001284238.1;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;							MODERATE	530/1377	P177H	GTDC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339750		CCDS33300.1			1	
QSOX2	0	LGGM	GRCh37	9	139100666	139100666	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	29	5	.	.	ENST00000358701.5:c.2005G>C	p.Val669Leu	p.V669L	ENST00000358701	NM_181701.3	669	Gtg/Ctg	0	1	1	UPI00004A7AC1	0	NA	ENST00000358701		ENSG00000165661	30249		34	1.5		HGNC	p.V669L		QSOX2		SNV							ENST00000358701	protein_coding	getma.org/?cm=var&var=hg19,9,139100666,C,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR22897:SF7,hmmpanther:PTHR22897		V/L		G	low	2043/4530		getma.org/?cm=msa&ty=f&p=QSOX2_HUMAN&rb=533&re=698&var=V669L	tolerated(0.06)				YES	QSOX2,missense_variant,p.Val669Leu,ENST00000358701,NM_181701.3;LHX3,upstream_gene_variant,,ENST00000371748,NM_178138.4;QSOX2,downstream_gene_variant,,ENST00000455222,;							MODERATE	2005/2097	V669L	QSOX2_HUMAN			Transcript		benign(0.411)	.	ENSP00000351536		CCDS35178.1			1	
NCAM2	0	LGGM	GRCh37	21	22707912	22707912	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	12	5	.	.	ENST00000400546.1:c.825T>C	p.Asp275=	p.D275=	ENST00000400546	NM_004540.3	275	gaT/gaC	0	1	1	UPI00001A3703	0		ENST00000400546		ENSG00000154654	7657		17			HGNC	p.D275D		NCAM2		SNV							ENST00000400546	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		D		C		1074/8135				D3DSC5_HUMAN			YES	NCAM2,synonymous_variant,p.=,ENST00000400546,NM_004540.3;NCAM2,synonymous_variant,p.=,ENST00000284894,;NCAM2,synonymous_variant,p.=,ENST00000535285,;NCAM2,non_coding_transcript_exon_variant,,ENST00000461281,;							LOW	825/2514		NCAM2_HUMAN			Transcript			.	ENSP00000383392		CCDS42910.1			1	
C19orf80	0	LGGM	GRCh37	19	11350314	11350314	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	9	5	.	.	ENST00000252453.8:c.1A>G	p.Met1?	p.M1?	ENST00000252453	NM_018687.6	1	Atg/Gtg	0	1	1	UPI000003F538	0	NA	ENST00000252453		ENSG00000130173	24933		14	0		HGNC	p.M1V		C19orf80		SNV							ENST00000252453	protein_coding	getma.org/?cm=var&var=hg19,19,11350314,A,G&fts=all		Cleavage_site_(Signalp):SignalP-noTM		M/V		G	NA	20/872		http://getma.org/?cm=msa&ty=f&p=TD26_HUMAN&rb=1&re=196&var=M1V	deleterious_low_confidence(0)	K7EIY2_HUMAN			YES	C19orf80,start_lost,p.Met1?,ENST00000252453,NM_018687.6;DOCK6,intron_variant,,ENST00000294618,NM_020812.3;C19orf80,intron_variant,,ENST00000591200,;DOCK6,upstream_gene_variant,,ENST00000319867,;DOCK6,upstream_gene_variant,,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000590680,;DOCK6,upstream_gene_variant,,ENST00000585904,;C19orf80,upstream_gene_variant,,ENST00000587543,;DOCK6,upstream_gene_variant,,ENST00000591750,;							HIGH	1/597	M1V	BETAT_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000252453		CCDS54220.1			1	
SLC5A10	0	LGGM	GRCh37	17	18872382	18872382	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	5	5	.	.	ENST00000395647.2:c.471G>A	p.Gly157=	p.G157=	ENST00000395647	NM_152351.4	157	ggG/ggA	0	1		UPI000003ED41	0		ENST00000395645		ENSG00000154025	23155		10			HGNC	p.G157G		SLC5A10		SNV							ENST00000395643	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF57,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474		G		A		489/2069								SLC5A10,synonymous_variant,p.=,ENST00000317977,NM_001282417.1;SLC5A10,synonymous_variant,p.=,ENST00000395642,;SLC5A10,synonymous_variant,p.=,ENST00000395647,NM_152351.4;SLC5A10,synonymous_variant,p.=,ENST00000395645,NM_001042450.2;SLC5A10,synonymous_variant,p.=,ENST00000395643,NM_001270648.1;SLC5A10,synonymous_variant,p.=,ENST00000417251,NM_001270649.1;FAM83G,3_prime_UTR_variant,,ENST00000388995,;FAM83G,downstream_gene_variant,,ENST00000345041,;FAM83G,downstream_gene_variant,,ENST00000585154,NM_001039999.2;							LOW	471/1791		SC5AA_HUMAN			Transcript			.	ENSP00000379007		CCDS42275.1			1	
IQSEC1	0	LGGM	GRCh37	3	12942865	12942865	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	1	5	.	.	ENST00000273221.4:c.2847+1408C>T		*949*	ENST00000273221	NM_014869.5			0	1	1	UPI00003E1F36	0		ENST00000273221		ENSG00000144711	29112		6			HGNC	p.S988L		IQSEC1		SNV							ENST00000429247	protein_coding							A		-/5279							YES	IQSEC1,missense_variant,p.Ser988Leu,ENST00000429247,NM_001134382.2;IQSEC1,3_prime_UTR_variant,,ENST00000450726,;IQSEC1,intron_variant,,ENST00000273221,NM_014869.5;							MODIFIER	-/2892		IQEC1_HUMAN			Transcript			.	ENSP00000273221		CCDS33703.1			1	
ZNF257	0	LGGM	GRCh37	19	22272113	22272113	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	5	.	.	ENST00000594947.1:c.1561G>T	p.Gly521Cys	p.G521C	ENST00000594947	NM_033468.2	521	Ggc/Tgc	0	1	1	UPI0000E045CA	0	getma.org/pdb.php?prot=ZN257_HUMAN&from=501&to=526&var=G521C	ENST00000594947		ENSG00000197134	13498		21	3.715		HGNC	p.G521C	rs763630868	ZNF257	6.08E-05	SNV							ENST00000594947	protein_coding	getma.org/?cm=var&var=hg19,19,22272113,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/C		T	high	1705/3874	1.52E-05	getma.org/?cm=msa&ty=f&p=ZN257_HUMAN&rb=481&re=546&var=G521C	deleterious(0)	M0R0N1_HUMAN			YES	ZNF257,missense_variant,p.Gly521Cys,ENST00000594947,NM_033468.2;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;							MODERATE	1561/1692	G521C	ZN257_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000470209	1.65E-05	CCDS46030.1			1	
AOX1	0	LGGM	GRCh37	2	201507522	201507522	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	11	5	.	.	ENST00000374700.2:c.2845A>C	p.Lys949Gln	p.K949Q	ENST00000374700	NM_001159.3	949	Aag/Cag	0	1	1	UPI0000071863	0	getma.org/pdb.php?prot=ADO_HUMAN&from=707&to=1245&var=K949Q	ENST00000374700		ENSG00000138356	553		16	0.525		HGNC	p.K949Q		AOX1		SNV							ENST00000374700	protein_coding	getma.org/?cm=var&var=hg19,2,201507522,A,C&fts=all		hmmpanther:PTHR11908,Pfam_domain:PF02738,Gene3D:3.30.365.10,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF56003		K/Q		C	neutral	3086/5070		getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=707&re=1245&var=K949Q	tolerated(0.3)	C9J244_HUMAN,B4DNI5_HUMAN			YES	AOX1,missense_variant,p.Lys949Gln,ENST00000374700,NM_001159.3;AOX1,splice_region_variant,,ENST00000485106,;AOX1,splice_region_variant,,ENST00000465297,;AOX1,non_coding_transcript_exon_variant,,ENST00000472553,;							MODERATE	2845/4017	K949Q	ADO_HUMAN			Transcript		benign(0.192)	.	ENSP00000363832		CCDS33360.1			1	
AIPL1	0	LGGM	GRCh37	17	6329038	6329038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	8	5	.	.	ENST00000381129.3:c.897G>T	p.Lys299Asn	p.K299N	ENST00000381129	NM_014336.3	299	aaG/aaT	0	1	1	UPI0000125741	0	NA	ENST00000381129		ENSG00000129221	359		13	0.895		HGNC	p.K287N		AIPL1		SNV			1				ENST00000574506	protein_coding	getma.org/?cm=var&var=hg19,17,6329038,C,A&fts=all		Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR11242,hmmpanther:PTHR11242:SF2,Coiled-coils_(Ncoils):Coil		K/N		A	low	978/2959		getma.org/?cm=msa&ty=f&p=AIPL1_HUMAN&rb=297&re=384&var=K299N	tolerated(0.36)	F1T0C0_HUMAN,F1T0B6_HUMAN			YES	AIPL1,missense_variant,p.Lys299Asn,ENST00000381129,NM_014336.3,NM_001033055.1;AIPL1,missense_variant,p.Lys236Asn,ENST00000250087,NM_001033054.1;AIPL1,missense_variant,p.Lys287Asn,ENST00000574506,NM_001285399.2;AIPL1,missense_variant,p.Lys277Asn,ENST00000570466,NM_001285400.2;AIPL1,missense_variant,p.Lys275Asn,ENST00000576776,NM_001285401.2;AIPL1,missense_variant,p.Lys239Asn,ENST00000576307,;AIPL1,3_prime_UTR_variant,,ENST00000575265,;AIPL1,intron_variant,,ENST00000570584,;AIPL1,downstream_gene_variant,,ENST00000571740,NM_001285403.2;AIPL1,downstream_gene_variant,,ENST00000574913,;AIPL1,3_prime_UTR_variant,,ENST00000381128,NM_001285402.1;							MODERATE	897/1155	K299N	AIPL1_HUMAN			Transcript		benign(0.09)	.	ENSP00000370521		CCDS11075.1			1	
PPFIA1	0	LGGM	GRCh37	11	70171657	70171657	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	11	6	.	.	ENST00000253925.7:c.583G>A	p.Glu195Lys	p.E195K	ENST00000253925	NM_003626.3	195	Gaa/Aaa	0	1	1	UPI0000072426	0	NA	ENST00000253925		ENSG00000131626	9245		17	1.625		HGNC	p.E195K		PPFIA1		SNV							ENST00000532504	protein_coding	getma.org/?cm=var&var=hg19,11,70171657,G,A&fts=all		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15		E/K		A	low	798/5234		getma.org/?cm=msa&ty=f&p=LIPA1_HUMAN&rb=181&re=253&var=E195K	deleterious(0)	E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN			YES	PPFIA1,missense_variant,p.Glu195Lys,ENST00000253925,NM_003626.3;PPFIA1,missense_variant,p.Glu195Lys,ENST00000389547,NM_177423.2;PPFIA1,downstream_gene_variant,,ENST00000530746,;PPFIA1,downstream_gene_variant,,ENST00000532024,;AP000487.6,intron_variant,,ENST00000528607,;CTA-797E19.2,intron_variant,,ENST00000526017,;CTA-797E19.1,downstream_gene_variant,,ENST00000531426,;PPFIA1,upstream_gene_variant,,ENST00000530932,;PPFIA1,missense_variant,p.Glu195Lys,ENST00000532504,;PPFIA1,upstream_gene_variant,,ENST00000526262,;PPFIA1,upstream_gene_variant,,ENST00000525530,;							MODERATE	583/3609	E195K	LIPA1_HUMAN			Transcript		benign(0.201)	.	ENSP00000253925		CCDS31627.1			1	
PNMT	0	LGGM	GRCh37	17	37826326	37826326	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	4	6	.	.	ENST00000269582.2:c.533T>C	p.Leu178Pro	p.L178P	ENST00000269582	NM_002686.4	178	cTg/cCg	0	1	1	UPI0000111BE4	0	getma.org/pdb.php?prot=PNMT_HUMAN&from=14&to=279&var=L178P	ENST00000269582		ENSG00000141744	9160		10	2.69		HGNC	p.L178P		PNMT		SNV							ENST00000269582	protein_coding	getma.org/?cm=var&var=hg19,17,37826326,T,C&fts=all		PROSITE_profiles:PS51681,hmmpanther:PTHR10867,hmmpanther:PTHR10867:SF18,Gene3D:3.40.50.150,Pfam_domain:PF01234,PIRSF_domain:PIRSF000384,Superfamily_domains:SSF53335		L/P		C	medium	851/1253		getma.org/?cm=msa&ty=f&p=PNMT_HUMAN&rb=14&re=279&var=L178P	deleterious(0)	J3QRI3_HUMAN,A8MT87_HUMAN			YES	PNMT,missense_variant,p.Leu178Pro,ENST00000269582,NM_002686.4;PNMT,missense_variant,p.Leu80Pro,ENST00000394246,;PNMT,3_prime_UTR_variant,,ENST00000581428,;PGAP3,downstream_gene_variant,,ENST00000300658,NM_033419.3;PGAP3,downstream_gene_variant,,ENST00000378011,;PGAP3,downstream_gene_variant,,ENST00000579146,;TCAP,downstream_gene_variant,,ENST00000309889,;PGAP3,downstream_gene_variant,,ENST00000429199,;TCAP,downstream_gene_variant,,ENST00000578283,NM_003673.3;PGAP3,downstream_gene_variant,,ENST00000309862,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000577337,;PGAP3,downstream_gene_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000582276,;							MODERATE	533/849	L178P	PNMT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269582		CCDS11343.1			1	
SH3TC1	0	LGGM	GRCh37	4	8242612	8242612	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	11	6	.	.	ENST00000245105.3:c.3941G>T	p.Arg1314Leu	p.R1314L	ENST00000245105	NM_018986.3	1314	cGc/cTc	0	1	1	UPI000013CB93	0	NA	ENST00000245105		ENSG00000125089	26009		17	1.85		HGNC	p.R1238L		SH3TC1		SNV							ENST00000539824	protein_coding	getma.org/?cm=var&var=hg19,4,8242612,G,T&fts=all		hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF3		R/L		T	low	4008/4226		getma.org/?cm=msa&ty=f&p=S3TC1_HUMAN&rb=1184&re=1336&var=R1314L	deleterious(0)	F5GXD3_HUMAN,E7EQR1_HUMAN,D6RC98_HUMAN			YES	SH3TC1,missense_variant,p.Arg1238Leu,ENST00000539824,;SH3TC1,missense_variant,p.Arg1314Leu,ENST00000245105,NM_018986.3;SH3TC1,missense_variant,p.Arg15Leu,ENST00000512966,;SH3TC1,3_prime_UTR_variant,,ENST00000515682,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000502559,;SH3TC1,non_coding_transcript_exon_variant,,ENST00000502350,;SH3TC1,downstream_gene_variant,,ENST00000506360,;SH3TC1,downstream_gene_variant,,ENST00000502669,;SH3TC1,downstream_gene_variant,,ENST00000508183,;SH3TC1,downstream_gene_variant,,ENST00000511002,;							MODERATE	3941/4011	R1314L	S3TC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000245105		CCDS3399.1			1	
ANXA4	0	LGGM	GRCh37	2	70052590	70052590	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	6	.	.	ENST00000394295.4:c.909T>C	p.Gly303=	p.G303=	ENST00000394295	NM_001153.3	303	ggT/ggC	0	1	1	UPI000013D51A	0		ENST00000394295		ENSG00000196975	542		22			HGNC	p.G281G		ANXA4		SNV							ENST00000409920	protein_coding			Superfamily_domains:SSF47874,SMART_domains:SM00335,Gene3D:1.10.220.10,Pfam_domain:PF00191,PROSITE_patterns:PS00223,hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF28		G		C		1157/2163				Q6MZI0_HUMAN,Q6LES2_HUMAN,B4DDF9_HUMAN			YES	ANXA4,splice_region_variant,p.=,ENST00000394295,NM_001153.3;ANXA4,splice_region_variant,p.=,ENST00000536030,;ANXA4,splice_region_variant,p.=,ENST00000409920,;GMCL1,upstream_gene_variant,,ENST00000282570,NM_178439.3;GMCL1,upstream_gene_variant,,ENST00000468386,;ANXA4,splice_region_variant,,ENST00000471395,;ANXA4,splice_region_variant,,ENST00000477632,;							LOW	909/966		ANXA4_HUMAN			Transcript			.	ENSP00000377833		CCDS1894.1			1	
ITGB7	0	LGGM	GRCh37	12	53586590	53586590	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	17	6	.	.	ENST00000267082.5:c.1831G>A	p.Gly611Arg	p.G611R	ENST00000267082	NM_000889.1	611	Ggg/Agg	0	1	1	UPI0000000DF7	0	NA	ENST00000267082		ENSG00000139626	6162		23	0.99		HGNC	p.G611R		ITGB7		SNV							ENST00000422257	protein_coding	getma.org/?cm=var&var=hg19,12,53586590,C,T&fts=all		hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF36,Gene3D:2.10.25.10,PIRSF_domain:PIRSF002512,Superfamily_domains:SSF57196		G/R		T	low	2063/2867		getma.org/?cm=msa&ty=f&p=ITB7_HUMAN&rb=604&re=635&var=G611R	tolerated(0.53)	H3BRM2_HUMAN,F8W186_HUMAN,F8VNX4_HUMAN,B7Z506_HUMAN			YES	ITGB7,missense_variant,p.Gly611Arg,ENST00000267082,NM_000889.1;ITGB7,missense_variant,p.Gly611Arg,ENST00000422257,;ITGB7,intron_variant,,ENST00000338737,;ITGB7,intron_variant,,ENST00000550743,;ZNF740,downstream_gene_variant,,ENST00000416904,NM_001004304.3;ITGB7,upstream_gene_variant,,ENST00000551319,;ITGB7,downstream_gene_variant,,ENST00000552972,;ZNF740,downstream_gene_variant,,ENST00000551514,;ITGB7,intron_variant,,ENST00000542497,;ITGB7,downstream_gene_variant,,ENST00000589179,;ITGB7,downstream_gene_variant,,ENST00000549462,;ITGB7,downstream_gene_variant,,ENST00000551887,;ITGB7,downstream_gene_variant,,ENST00000548706,;ITGB7,downstream_gene_variant,,ENST00000549196,;ITGB7,downstream_gene_variant,,ENST00000548269,;							MODERATE	1831/2397	G611R	ITB7_HUMAN			Transcript		benign(0.015)	.	ENSP00000267082		CCDS8849.1			1	
ART5	0	LGGM	GRCh37	11	3661163	3661163	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	7	.	.	ENST00000397068.3:c.496C>T	p.Arg166Cys	p.R166C	ENST00000397068	NM_053017.3	166	Cgc/Tgc	0	1		UPI000013E694	0	getma.org/pdb.php?prot=NAR5_HUMAN&from=28&to=254&var=R166C	ENST00000359918		ENSG00000167311	24049		23	2.98		HGNC	p.R166C	rs767744521,COSM3447076,COSM3447077	ART5		SNV						0,1,1	ENST00000397067	protein_coding	getma.org/?cm=var&var=hg19,11,3661163,G,A&fts=all		hmmpanther:PTHR10339,hmmpanther:PTHR10339:SF2,Pfam_domain:PF01129,Gene3D:3.90.176.10,Superfamily_domains:SSF56399		R/C		A	medium	637/1241	3.01E-05	getma.org/?cm=msa&ty=f&p=NAR5_HUMAN&rb=28&re=254&var=R166C	tolerated(0.05)					ART5,missense_variant,p.Arg166Cys,ENST00000397068,NM_053017.3;ART5,missense_variant,p.Arg166Cys,ENST00000359918,NM_001079536.1;ART5,missense_variant,p.Arg166Cys,ENST00000397067,;ART5,missense_variant,p.Arg123Cys,ENST00000453353,;ART5,intron_variant,,ENST00000425767,;TRPC2,downstream_gene_variant,,ENST00000526541,;TRPC2,downstream_gene_variant,,ENST00000451043,;					0,1,1		MODERATE	496/876	R166C	NAR5_HUMAN			Transcript		benign(0.336)	.	ENSP00000352992	1.65E-05	CCDS7743.1			1	
LAMC2	0	LGGM	GRCh37	1	183192281	183192281	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	7	.	.	ENST00000264144.4:c.775G>A	p.Gly259Arg	p.G259R	ENST00000264144	NM_005562.2	259	Ggg/Agg	0	1	1	UPI000013D4CA	0	NA	ENST00000264144		ENSG00000058085	6493		28	2.875		HGNC	p.G259R		LAMC2		SNV			1				ENST00000264144	protein_coding	getma.org/?cm=var&var=hg19,1,183192281,G,A&fts=all		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF79,SMART_domains:SM00281		G/R		A	medium	840/5147		getma.org/?cm=msa&ty=f&p=LAMC2_HUMAN&rb=250&re=380&var=G259R	deleterious(0.01)				YES	LAMC2,missense_variant,p.Gly259Arg,ENST00000264144,NM_005562.2;LAMC2,missense_variant,p.Gly259Arg,ENST00000493293,NM_018891.2;							MODERATE	775/3582	G259R	LAMC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264144		CCDS1352.1			1	
ERRFI1	0	LGGM	GRCh37	1	8073853	8073853	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	14	7	.	.	ENST00000377482.5:c.806T>C	p.Ile269Thr	p.I269T	ENST00000377482	NM_018948.3	269	aTa/aCa	0	1	1	UPI000012F0FC	0	NA	ENST00000377482		ENSG00000116285	18185		21	0.345		HGNC	p.I269T		ERRFI1		SNV							ENST00000377482	protein_coding	getma.org/?cm=var&var=hg19,1,8073853,A,G&fts=all		hmmpanther:PTHR14254		I/T		G	neutral	1030/3104		getma.org/?cm=msa&ty=f&p=ERRFI_HUMAN&rb=269&re=314&var=I269T	tolerated(0.43)	I6S2Y9_HUMAN			YES	ERRFI1,missense_variant,p.Ile269Thr,ENST00000377482,NM_018948.3;ERRFI1,3_prime_UTR_variant,,ENST00000467067,;ERRFI1,3_prime_UTR_variant,,ENST00000469499,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,downstream_gene_variant,,ENST00000487559,;							MODERATE	806/1389	I269T	ERRFI_HUMAN			Transcript		benign(0)	.	ENSP00000366702		CCDS94.1			1	
PMCH	0	LGGM	GRCh37	12	102590774	102590774	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	23	7	.	.	ENST00000329406.4:c.425C>G	p.Pro142Arg	p.P142R	ENST00000329406	NM_002674.2	142	cCt/cGt	0	1	1	UPI000006D1DF	0	NA	ENST00000329406		ENSG00000183395	9109		30	2.135		HGNC	p.P142R		PMCH		SNV							ENST00000329406	protein_coding	getma.org/?cm=var&var=hg19,12,102590774,G,C&fts=all		hmmpanther:PTHR12091,hmmpanther:PTHR12091:SF0,Pfam_domain:PF05824		P/R		C	medium	500/766		getma.org/?cm=msa&ty=f&p=MCH_HUMAN&rb=80&re=165&var=P142R	deleterious(0)				YES	PMCH,missense_variant,p.Pro142Arg,ENST00000329406,NM_002674.2;PARPBP,3_prime_UTR_variant,,ENST00000327680,NM_017915.3;PARPBP,3_prime_UTR_variant,,ENST00000378128,;PARPBP,3_prime_UTR_variant,,ENST00000417507,;PARPBP,3_prime_UTR_variant,,ENST00000412715,;PARPBP,downstream_gene_variant,,ENST00000541394,;PARPBP,downstream_gene_variant,,ENST00000358383,;PARPBP,downstream_gene_variant,,ENST00000392911,;PARPBP,downstream_gene_variant,,ENST00000543784,;PARPBP,non_coding_transcript_exon_variant,,ENST00000535811,;PARPBP,3_prime_UTR_variant,,ENST00000457614,;							MODERATE	425/498	P142R	MCH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332225		CCDS31885.1			1	
ATP2B1	0	LGGM	GRCh37	12	90028903	90028903	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	19	7	.	.	ENST00000428670.3:c.532G>T	p.Glu178Ter	p.E178*	ENST00000428670		178	Gaa/Taa	0	1	1	UPI000002A436	0	NA	ENST00000428670		ENSG00000070961	814		26	0		HGNC	p.E178X		ATP2B1		SNV							ENST00000428670	protein_coding	getma.org/?cm=var&var=hg19,12,90028903,C,A&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,TIGRFAM_domain:TIGR01494		E/*		A	NA	989/7032		NA		Q3L582_HUMAN			YES	ATP2B1,stop_gained,p.Glu178Ter,ENST00000428670,;ATP2B1,stop_gained,p.Glu178Ter,ENST00000359142,NM_001001323.1;ATP2B1,stop_gained,p.Glu178Ter,ENST00000261173,NM_001682.2;ATP2B1,stop_gained,p.Glu178Ter,ENST00000348959,;ATP2B1,upstream_gene_variant,,ENST00000393164,;							HIGH	532/3663	E178*	AT2B1_HUMAN			Transcript			.	ENSP00000392043		CCDS9035.1			1	
FOLR3	0	LGGM	GRCh37	11	71850521	71850521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	12	7	.	.	ENST00000456237.1:c.614C>A	p.Thr205Asn	p.T205N	ENST00000456237		205	aCc/aAc	0	1	1	UPI0001AE6C07	0		ENST00000456237		ENSG00000110203	3795		19			HGNC	p.T162N		FOLR3		SNV							ENST00000442948	protein_coding			Pfam_domain:PF03024,hmmpanther:PTHR10517,hmmpanther:PTHR10517:SF17		T/N		A		664/973			deleterious(0.02)	J3KQ90_HUMAN,E9PGT2_HUMAN			YES	FOLR3,missense_variant,p.Thr203Asn,ENST00000445078,;FOLR3,missense_variant,p.Thr205Asn,ENST00000456237,;FOLR3,missense_variant,p.Thr162Asn,ENST00000442948,NM_000804.2;FOLR3,downstream_gene_variant,,ENST00000546166,;FOLR3,3_prime_UTR_variant,,ENST00000325101,;FOLR3,3_prime_UTR_variant,,ENST00000542161,;FOLR3,non_coding_transcript_exon_variant,,ENST00000545379,;							MODERATE	614/864					Transcript		probably_damaging(0.926)	.	ENSP00000399235					1	
SERTAD3	0	LGGM	GRCh37	19	40947419	40947419	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	7	.	.	ENST00000322354.3:c.569T>G	p.Met190Arg	p.M190R	ENST00000322354	NM_203344.2	190	aTg/aGg	0	1	1	UPI0000072807	0	NA	ENST00000322354		ENSG00000167565	17931		28	0		HGNC	p.M190R		SERTAD3		SNV							ENST00000322354	protein_coding	getma.org/?cm=var&var=hg19,19,40947419,A,C&fts=all		hmmpanther:PTHR15530,hmmpanther:PTHR15530:SF0		M/R		C	neutral	1066/1734		getma.org/?cm=msa&ty=f&p=SRTD3_HUMAN&rb=71&re=196&var=M190R	deleterious(0)	M0R352_HUMAN,M0QXL4_HUMAN			YES	SERTAD3,missense_variant,p.Met190Arg,ENST00000322354,NM_203344.2;SERTAD3,missense_variant,p.Met190Arg,ENST00000392028,NM_013368.3;SERTAD3,downstream_gene_variant,,ENST00000599706,;SERTAD3,downstream_gene_variant,,ENST00000596456,;CTC-492K19.4,upstream_gene_variant,,ENST00000599050,;SERTAD3,upstream_gene_variant,,ENST00000601217,;							MODERATE	569/591	M190R	SRTD3_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000325414		CCDS12558.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	8	7	.	.	ENST00000349496.5:c.98C>T	p.Ser33Phe	p.S33F	ENST00000349496	NM_001904.3	33	tCt/tTt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33F	ENST00000349496	pathogenic	ENSG00000168036	2514		15	2.46		HGNC	p.S33F	rs121913400,COSM5669	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266101,C,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/F		T	medium	378/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33F	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Phe,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Phe,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Phe,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Phe,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Phe,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	98/2346	S33F	CTNB1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000344456		CCDS2694.1			1	
CACNA2D4	0	LGGM	GRCh37	12	1904489	1904489	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	8	.	.	ENST00000382722.5:c.3285C>A	p.Asp1095Glu	p.D1095E	ENST00000382722	NM_172364.4	1095	gaC/gaA	0	1	1	UPI0000E593D9	0	NA	ENST00000382722		ENSG00000151062	20202		21	1.02		HGNC	p.D1070E		CACNA2D4		SNV			1				ENST00000587995	protein_coding	getma.org/?cm=var&var=hg19,12,1904489,G,T&fts=all		hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26		D/E		T	low	3648/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=981&re=1137&var=D1095E	tolerated(0.8)				YES	CACNA2D4,missense_variant,p.Asp1095Glu,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Asp1070Glu,ENST00000587995,;CACNA2D4,missense_variant,p.Asp1095Glu,ENST00000586184,;CACNA2D4,missense_variant,p.Asp1031Glu,ENST00000588077,;CACNA2D4,missense_variant,p.Asp1031Glu,ENST00000585708,;CACNA2D4,missense_variant,p.Asp225Glu,ENST00000538450,;CACNA2D4,missense_variant,p.Asp240Glu,ENST00000538027,;CACNA2D4,missense_variant,p.Asp242Glu,ENST00000536846,;CACNA2D4,3_prime_UTR_variant,,ENST00000444595,;CACNA2D4,3_prime_UTR_variant,,ENST00000537784,;CACNA2D4,3_prime_UTR_variant,,ENST00000545595,;CACNA2D4,3_prime_UTR_variant,,ENST00000585385,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000541444,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000543405,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000588896,;CACNA2D4,downstream_gene_variant,,ENST00000589502,;CACNA2D4,downstream_gene_variant,,ENST00000540728,;CACNA2D4,downstream_gene_variant,,ENST00000541616,;CACNA2D4,downstream_gene_variant,,ENST00000542340,;CACNA2D4,downstream_gene_variant,,ENST00000537923,;CACNA2D4,downstream_gene_variant,,ENST00000536818,;CACNA2D4,downstream_gene_variant,,ENST00000541331,;							MODERATE	3285/3414	D1095E	CA2D4_HUMAN			Transcript		benign(0.005)	.	ENSP00000372169		CCDS44785.1			1	
TMEM26	0	LGGM	GRCh37	10	63188822	63188822	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	22	8	.	.	ENST00000399298.3:c.467T>G	p.Leu156Arg	p.L156R	ENST00000399298	NM_178505.6	156	cTa/cGa	0	1	1	UPI00001C0B3F	0	NA	ENST00000399298		ENSG00000196932	28550		30	2.585		HGNC	p.L156R		TMEM26		SNV							ENST00000399293	protein_coding	getma.org/?cm=var&var=hg19,10,63188822,A,C&fts=all		Pfam_domain:PF09772,hmmpanther:PTHR22168,hmmpanther:PTHR22168:SF2		L/R		C	medium	836/5151		getma.org/?cm=msa&ty=f&p=TMM26_HUMAN&rb=3&re=303&var=L156R	deleterious(0)				YES	TMEM26,missense_variant,p.Leu156Arg,ENST00000399298,NM_178505.6;TMEM26,missense_variant,p.Leu156Arg,ENST00000399293,;TMEM26,missense_variant,p.Leu66Arg,ENST00000277749,;TMEM26,missense_variant,p.Leu156Arg,ENST00000503886,;TMEM26,missense_variant,p.Leu156Arg,ENST00000488505,;							MODERATE	467/1107	L156R	TMM26_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000382237		CCDS41530.1			1	
IGSF21	0	LGGM	GRCh37	1	18554457	18554457	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	8	.	.	ENST00000251296.1:c.136T>A	p.Cys46Ser	p.C46S	ENST00000251296	NM_032880.4	46	Tgt/Agt	0	1	1	UPI000006FCF2	0	getma.org/pdb.php?prot=IGS21_HUMAN&from=27&to=133&var=C46S	ENST00000251296		ENSG00000117154	28246		29	2.315		HGNC	p.C46S		IGSF21		SNV							ENST00000251296	protein_coding	getma.org/?cm=var&var=hg19,1,18554457,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF442,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/S		A	medium	519/1943		getma.org/?cm=msa&ty=f&p=IGS21_HUMAN&rb=27&re=133&var=C46S	deleterious(0)				YES	IGSF21,missense_variant,p.Cys46Ser,ENST00000251296,NM_032880.4;							MODERATE	136/1404	C46S	IGS21_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000251296		CCDS184.1			1	
PBK	0	LGGM	GRCh37	8	27667955	27667955	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	8	.	.	ENST00000301905.4:c.836C>T	p.Pro279Leu	p.P279L	ENST00000301905	NM_001278945.1	279	cCa/cTa	0	1	1	UPI0000035B8B	0	getma.org/pdb.php?prot=TOPK_HUMAN&from=33&to=318&var=P279L	ENST00000301905		ENSG00000168078	18282		24	1.775		HGNC	p.P290L		PBK		SNV							ENST00000522944	protein_coding	getma.org/?cm=var&var=hg19,8,27667955,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF76,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/L		A	low	1300/2118		getma.org/?cm=msa&ty=f&p=TOPK_HUMAN&rb=33&re=318&var=P279L	deleterious(0)				YES	PBK,missense_variant,p.Pro279Leu,ENST00000301905,NM_001278945.1,NM_018492.3;PBK,missense_variant,p.Pro290Leu,ENST00000522944,;ESCO2,intron_variant,,ENST00000397418,;PBK,3_prime_UTR_variant,,ENST00000524266,;ESCO2,intron_variant,,ENST00000522378,;							MODERATE	836/969	P279L	TOPK_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000301905		CCDS6063.1			1	
CNTN6	0	LGGM	GRCh37	3	1445036	1445036	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	9	8	.	.	ENST00000446702.2:c.3021T>C	p.Pro1007=	p.P1007=	ENST00000446702		1007	ccT/ccC	0	1		UPI0000072430	0		ENST00000350110		ENSG00000134115	2176		17			HGNC	p.P1007P		CNTN6		SNV							ENST00000350110	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52		P		C		3572/3814				F5H752_HUMAN				CNTN6,synonymous_variant,p.=,ENST00000446702,;CNTN6,synonymous_variant,p.=,ENST00000350110,NM_014461.2;CNTN6,synonymous_variant,p.=,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,downstream_gene_variant,,ENST00000485257,;							LOW	3021/3087		CNTN6_HUMAN			Transcript			.	ENSP00000341882		CCDS2557.1			1	
PDGFC	0	LGGM	GRCh37	4	157684336	157684336	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	15	9	.	.	ENST00000502773.1:c.944C>A	p.Thr315Asn	p.T315N	ENST00000502773	NM_016205.2	315	aCc/aAc	0	1	1	UPI0000034814	0	getma.org/pdb.php?prot=PDGFC_HUMAN&from=250&to=337&var=T315N	ENST00000502773		ENSG00000145431	8801		24	0.345		HGNC	p.T160N		PDGFC		SNV							ENST00000542208	protein_coding	getma.org/?cm=var&var=hg19,4,157684336,G,T&fts=all		PROSITE_profiles:PS50278,Gene3D:2.10.90.10,Pfam_domain:PF00341,SMART_domains:SM00141,Superfamily_domains:SSF57501		T/N		T	neutral	1435/4165		getma.org/?cm=msa&ty=f&p=PDGFC_HUMAN&rb=250&re=337&var=T315N	tolerated(0.53)				YES	PDGFC,missense_variant,p.Thr315Asn,ENST00000502773,NM_016205.2;PDGFC,missense_variant,p.Thr152Asn,ENST00000541126,;PDGFC,missense_variant,p.Thr160Asn,ENST00000542208,;PDGFC,missense_variant,p.Thr252Asn,ENST00000422544,;PDGFC,non_coding_transcript_exon_variant,,ENST00000504672,;PDGFC,downstream_gene_variant,,ENST00000510982,;PDGFC,3_prime_UTR_variant,,ENST00000274071,;PDGFC,3_prime_UTR_variant,,ENST00000506880,;							MODERATE	944/1038	T315N	PDGFC_HUMAN			Transcript		benign(0.006)	.	ENSP00000422464		CCDS3795.1			1	
RPL22	0	LGGM	GRCh37	1	6252989	6252989	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	8	9	.	.	ENST00000234875.4:c.242+1G>A		p.X81_splice	ENST00000234875	NM_000983.3			0	1	1	UPI000015A487	0		ENST00000234875		ENSG00000116251	10315		17			HGNC	p.R48R		RPL22		SNV							ENST00000462296	protein_coding							T		-/2078				Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN			YES	RPL22,splice_donor_variant,,ENST00000234875,NM_000983.3;RPL22,splice_donor_variant,,ENST00000497965,;RPL22,splice_donor_variant,,ENST00000471204,;RPL22,splice_donor_variant,,ENST00000465387,;RPL22,splice_donor_variant,,ENST00000484532,;RPL22,synonymous_variant,p.=,ENST00000462296,;RPL22,downstream_gene_variant,,ENST00000465335,;RPL22,splice_donor_variant,,ENST00000480661,;							HIGH	242/387		RL22_HUMAN			Transcript			.	ENSP00000346088		CCDS58.1			1	
DBF4B	0	LGGM	GRCh37	17	42828229	42828229	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	18	10	.	.	ENST00000315005.3:c.1456G>T	p.Ala486Ser	p.A486S	ENST00000315005	NM_145663.2	486	Gcg/Tcg	0	1	1	UPI00000473C7	0	NA	ENST00000315005		ENSG00000161692	17883		28	0		HGNC	p.A486S		DBF4B		SNV							ENST00000315005	protein_coding	getma.org/?cm=var&var=hg19,17,42828229,G,T&fts=all		hmmpanther:PTHR15375,hmmpanther:PTHR15375:SF23		A/S		T	neutral	1594/2997		getma.org/?cm=msa&ty=f&p=DBF4B_HUMAN&rb=371&re=614&var=A486S	tolerated_low_confidence(0.18)	B3KWT3_HUMAN			YES	DBF4B,missense_variant,p.Ala486Ser,ENST00000315005,NM_145663.2;DBF4B,intron_variant,,ENST00000393547,NM_025104.3;DBF4B,downstream_gene_variant,,ENST00000526924,;DBF4B,downstream_gene_variant,,ENST00000527862,;							MODERATE	1456/1848	A486S	DBF4B_HUMAN			Transcript		benign(0.002)	.	ENSP00000323663		CCDS11485.1			1	
ADAM7	0	LGGM	GRCh37	8	24324428	24324428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	27	10	.	.	ENST00000175238.6:c.506C>T	p.Ser169Phe	p.S169F	ENST00000175238	NM_003817.3	169	tCc/tTc	0	1	1	UPI000013C5CC	0	NA	ENST00000175238		ENSG00000069206	214		37	0.805		HGNC	p.S169F	COSM3647528	ADAM7		SNV						1	ENST00000175238	protein_coding	getma.org/?cm=var&var=hg19,8,24324428,C,T&fts=all		hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905		S/F		T	low	589/3367		getma.org/?cm=msa&ty=f&p=ADAM7_HUMAN&rb=157&re=198&var=S169F	deleterious(0)				YES	ADAM7,missense_variant,p.Ser169Phe,ENST00000175238,NM_003817.3;ADAM7,missense_variant,p.Ser169Phe,ENST00000380789,;ADAM7,missense_variant,p.Ser169Phe,ENST00000441335,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;					1		MODERATE	506/2265	S169F	ADAM7_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000175238		CCDS6045.1			1	
C11orf65	0	LGGM	GRCh37	11	108277644	108277644	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	14	10	.	.	ENST00000393084.1:c.275C>T	p.Pro92Leu	p.P92L	ENST00000393084	NM_152587.3	92	cCt/cTt	0	1	1	UPI000006DEE6	0	NA	ENST00000393084		ENSG00000166323	28519		24	1.32		HGNC	p.P92L		C11orf65		SNV							ENST00000527531	protein_coding	getma.org/?cm=var&var=hg19,11,108277644,G,A&fts=all				P/L		A	low	345/1033		getma.org/?cm=msa&ty=f&p=CK065_HUMAN&rb=34&re=310&var=P92L	tolerated(0.08)				YES	C11orf65,missense_variant,p.Pro43Leu,ENST00000525729,;C11orf65,missense_variant,p.Pro92Leu,ENST00000393084,NM_152587.3;C11orf65,missense_variant,p.Pro92Leu,ENST00000529391,;C11orf65,missense_variant,p.Pro74Leu,ENST00000533583,;C11orf65,upstream_gene_variant,,ENST00000524755,;C11orf65,upstream_gene_variant,,ENST00000526725,;C11orf65,missense_variant,p.Pro92Leu,ENST00000527531,;							MODERATE	275/942	P92L	CK065_HUMAN			Transcript		benign(0.268)	.	ENSP00000376799		CCDS8340.1			1	
TTN	0	LGGM	GRCh37	2	179614186	179614186	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	15	10	.	.	ENST00000589042.1:c.11311+3665C>A		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		25	0.695		HGNC	p.T4314N		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179614186,G,T&fts=all						T	neutral	-/104301		getma.org/?cm=msa&ty=f&p=E7EQE1_HUMAN&rb=4313&re=4507&var=T4316N		C9JQJ2_HUMAN				TTN,missense_variant,p.Thr4314Asn,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,;							MODIFIER	-/103053	T4316N	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
LRRC4	0	LGGM	GRCh37	7	127670325	127670325	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	9	10	.	.	ENST00000249363.3:c.369C>A	p.Ala123=	p.A123=	ENST00000249363	NM_022143.4	123	gcC/gcA	0	1	1	UPI0000049DF3	0		ENST00000249363		ENSG00000128594	15586		19			HGNC	p.A41A		LRRC4		SNV							ENST00000494115	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13306,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF9,SMART_domains:SM00369,Superfamily_domains:SSF52058		A		T		627/3828				C9JA92_HUMAN,C9J7V8_HUMAN,C9J7K7_HUMAN			YES	LRRC4,synonymous_variant,p.=,ENST00000249363,NM_022143.4;LRRC4,synonymous_variant,p.=,ENST00000494115,;SND1,intron_variant,,ENST00000354725,NM_014390.2;SND1,intron_variant,,ENST00000486037,;LRRC4,downstream_gene_variant,,ENST00000476782,;LRRC4,downstream_gene_variant,,ENST00000478726,;SND1,intron_variant,,ENST00000470723,;SND1,intron_variant,,ENST00000484767,;							LOW	369/1962		LRRC4_HUMAN			Transcript			.	ENSP00000249363		CCDS5799.1			1	
KCNB2	0	LGGM	GRCh37	8	73849511	73849511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	13	11	.	.	ENST00000523207.1:c.1921G>A	p.Glu641Lys	p.E641K	ENST00000523207	NM_004770.2	641	Gaa/Aaa	0	1	1	UPI000012DC85	0	NA	ENST00000523207		ENSG00000182674	6232		24	1.245		HGNC	p.E641K		KCNB2		SNV							ENST00000523207	protein_coding	getma.org/?cm=var&var=hg19,8,73849511,G,A&fts=all		Pfam_domain:PF03521		E/K		A	low	2509/3582		getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=471&re=760&var=E641K	tolerated_low_confidence(0.49)				YES	KCNB2,missense_variant,p.Glu641Lys,ENST00000523207,NM_004770.2;							MODERATE	1921/2736	E641K	KCNB2_HUMAN			Transcript		benign(0.111)	.	ENSP00000430846		CCDS6209.1			1	
IQGAP3	0	LGGM	GRCh37	1	156509702	156509702	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	17	11	.	.	ENST00000361170.2:c.2820G>A	p.Lys940=	p.K940=	ENST00000361170	NM_178229.4	940	aaG/aaA	0	1	1	UPI000046FFDD	0		ENST00000361170		ENSG00000183856	20669		28			HGNC	p.K940K		IQGAP3		SNV							ENST00000361170	protein_coding			hmmpanther:PTHR14149,hmmpanther:PTHR14149:SF10		K		T		2831/5988				F2Z2E2_HUMAN			YES	IQGAP3,synonymous_variant,p.=,ENST00000361170,NM_178229.4;IQGAP3,upstream_gene_variant,,ENST00000498755,;IQGAP3,upstream_gene_variant,,ENST00000476565,;IQGAP3,synonymous_variant,p.=,ENST00000491900,;							LOW	2820/4896		IQGA3_HUMAN			Transcript			.	ENSP00000354451		CCDS1144.1			1	
PDIA3	0	LGGM	GRCh37	15	44061825	44061825	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	20	11	.	.	ENST00000300289.5:c.1247A>G	p.Tyr416Cys	p.Y416C	ENST00000300289	NM_005313.4	416	tAt/tGt	0	1	1	UPI0000052A4F	0	getma.org/pdb.php?prot=PDIA3_HUMAN&from=377&to=483&var=Y416C	ENST00000300289		ENSG00000167004	4606		31	4.085		HGNC	p.Y396C		PDIA3		SNV							ENST00000538521	protein_coding	getma.org/?cm=var&var=hg19,15,44061825,A,G&fts=all		PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF60,PROSITE_patterns:PS00194,TIGRFAM_domain:TIGR01130,Gene3D:3.40.30.10,Pfam_domain:PF00085,TIGRFAM_domain:TIGR01126,Superfamily_domains:SSF52833		Y/C		G	high	1395/3727		getma.org/?cm=msa&ty=f&p=PDIA3_HUMAN&rb=377&re=483&var=Y416C	deleterious(0)				YES	PDIA3,missense_variant,p.Tyr416Cys,ENST00000300289,NM_005313.4;PDIA3,missense_variant,p.Tyr396Cys,ENST00000538521,;ELL3,downstream_gene_variant,,ENST00000319359,NM_025165.2;ELL3,downstream_gene_variant,,ENST00000497465,;PDIA3,3_prime_UTR_variant,,ENST00000434494,;RP11-296A16.1,downstream_gene_variant,,ENST00000417761,;ELL3,downstream_gene_variant,,ENST00000467869,;PDIA3,upstream_gene_variant,,ENST00000497349,;PDIA3,downstream_gene_variant,,ENST00000455250,;							MODERATE	1247/1518	Y416C	PDIA3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000300289		CCDS10101.1			1	
CADPS	0	LGGM	GRCh37	3	62459928	62459928	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	11	.	.	ENST00000383710.4:c.3397T>C	p.Ser1133Pro	p.S1133P	ENST00000383710	NM_003716.3	1133	Tca/Cca	0	1	1	UPI00001C036A	0	NA	ENST00000383710		ENSG00000163618	1426	8.64E-05	36	2.125		HGNC	p.S1094P	rs766019189	CADPS		SNV							ENST00000283269	protein_coding	getma.org/?cm=var&var=hg19,3,62459928,A,G&fts=all		hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166		S/P		G	medium	3747/5471		getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=941&re=1140&var=S1133P	deleterious(0.02)				YES	CADPS,missense_variant,p.Ser1133Pro,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Ser1054Pro,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Ser1094Pro,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Ser120Pro,ENST00000473635,;CADPS,missense_variant,p.Ser45Pro,ENST00000466621,;CADPS,upstream_gene_variant,,ENST00000462768,;CADPS,non_coding_transcript_exon_variant,,ENST00000478570,;CADPS,non_coding_transcript_exon_variant,,ENST00000478408,;CADPS,downstream_gene_variant,,ENST00000463002,;							MODERATE	3397/4062	S1133P	CAPS1_HUMAN			Transcript		benign(0.307)	.	ENSP00000373215	8.24E-06	CCDS46858.1			1	
CCDC25	0	LGGM	GRCh37	8	27605649	27605649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	11	.	.	ENST00000356537.4:c.496A>G	p.Met166Val	p.M166V	ENST00000356537	NM_018246.2	166	Atg/Gtg	0	1	1	UPI0000039E53	0	NA	ENST00000356537		ENSG00000147419	25591		32	0.375		HGNC	p.M166V		CCDC25		SNV							ENST00000356537	protein_coding	getma.org/?cm=var&var=hg19,8,27605649,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13049,Low_complexity_(Seg):seg		M/V		C	neutral	590/3619		getma.org/?cm=msa&ty=f&p=CCD25_HUMAN&rb=101&re=208&var=M166V	tolerated(0.11)	Q0P663_HUMAN			YES	CCDC25,missense_variant,p.Met166Val,ENST00000356537,NM_018246.2;CCDC25,missense_variant,p.Met98Val,ENST00000539095,;CCDC25,missense_variant,p.Met98Val,ENST00000522915,;RP11-16P20.3,intron_variant,,ENST00000521510,;CCDC25,3_prime_UTR_variant,,ENST00000520486,;CCDC25,3_prime_UTR_variant,,ENST00000520202,;CCDC25,3_prime_UTR_variant,,ENST00000519509,;CCDC25,3_prime_UTR_variant,,ENST00000523841,;CCDC25,3_prime_UTR_variant,,ENST00000517979,;CCDC25,non_coding_transcript_exon_variant,,ENST00000521220,;CCDC25,non_coding_transcript_exon_variant,,ENST00000519299,;CCDC25,non_coding_transcript_exon_variant,,ENST00000519843,;CCDC25,intron_variant,,ENST00000524084,;							MODERATE	496/627	M166V	CCD25_HUMAN			Transcript		benign(0.001)	.	ENSP00000348933		CCDS6062.2			1	
RLF	0	LGGM	GRCh37	1	40701552	40701552	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	26	11	.	.	ENST00000372771.4:c.1178C>T	p.Ser393Leu	p.S393L	ENST00000372771	NM_012421.3	393	tCa/tTa	0	1	1	UPI000013C9DA	0	NA	ENST00000372771		ENSG00000117000	10025		37	1.15		HGNC	p.S393L		RLF		SNV							ENST00000372771	protein_coding	getma.org/?cm=var&var=hg19,1,40701552,C,T&fts=all		hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507		S/L		T	low	1205/6246		getma.org/?cm=msa&ty=f&p=RLF_HUMAN&rb=61&re=486&var=S393L	deleterious(0)				YES	RLF,missense_variant,p.Ser393Leu,ENST00000372771,NM_012421.3;							MODERATE	1178/5745	S393L	RLF_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000361857		CCDS448.1			1	
IQCC	0	LGGM	GRCh37	1	32672247	32672247	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	19	11	.	.	ENST00000537469.1:c.564G>T	p.Glu188Asp	p.E188D	ENST00000537469	NM_001160042.1	188	gaG/gaT	0	1		UPI000013E040	0	NA	ENST00000291358		ENSG00000160051	25545		30	1.79		HGNC	p.E188D		IQCC		SNV							ENST00000537469	protein_coding	getma.org/?cm=var&var=hg19,1,32672247,G,T&fts=all		hmmpanther:PTHR16049		E/D		T	low	345/2027		getma.org/?cm=msa&ty=f&p=IQCC_HUMAN&rb=28&re=195&var=E108D	tolerated(0.13)					IQCC,missense_variant,p.Glu188Asp,ENST00000537469,NM_001160042.1;IQCC,missense_variant,p.Glu108Asp,ENST00000291358,NM_018134.2;CCDC28B,downstream_gene_variant,,ENST00000421922,;DCDC2B,upstream_gene_variant,,ENST00000409358,NM_001099434.1;CCDC28B,downstream_gene_variant,,ENST00000373602,NM_024296.3;RP4-622L5.7,non_coding_transcript_exon_variant,,ENST00000421616,;RP4-622L5.7,upstream_gene_variant,,ENST00000373604,;CCDC28B,downstream_gene_variant,,ENST00000483009,;DCDC2B,upstream_gene_variant,,ENST00000487056,;CCDC28B,downstream_gene_variant,,ENST00000469003,;CCDC28B,downstream_gene_variant,,ENST00000461819,;							MODERATE	324/1401	E108D	IQCC_HUMAN			Transcript		benign(0.081)	.	ENSP00000291358		CCDS355.1			1	
NPL	0	LGGM	GRCh37	1	182797902	182797902	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	28	11	.	.	ENST00000367553.1:c.822T>C	p.Ser274=	p.S274=	ENST00000367553	NM_030769.2	274	tcT/tcC	0	1		UPI00000728AB	0		ENST00000258317		ENSG00000135838	16781		39			HGNC	p.S274S		NPL		SNV							ENST00000258317	protein_coding			Gene3D:3.20.20.70,Pfam_domain:PF00701,PIRSF_domain:PIRSF001365,hmmpanther:PTHR12128,hmmpanther:PTHR12128:SF21,Superfamily_domains:SSF51569		S		C		844/1530								NPL,synonymous_variant,p.=,ENST00000367554,NM_001200050.1;NPL,synonymous_variant,p.=,ENST00000367553,NM_030769.2,NM_001200056.1;NPL,synonymous_variant,p.=,ENST00000258317,;NPL,intron_variant,,ENST00000367555,NM_001200051.1;NPL,intron_variant,,ENST00000367552,;NPL,intron_variant,,ENST00000488424,;NPL,intron_variant,,ENST00000460179,;NPL,downstream_gene_variant,,ENST00000463899,;							LOW	822/963		NPL_HUMAN			Transcript			.	ENSP00000258317		CCDS1350.1			1	
NAV3	0	LGGM	GRCh37	12	78400645	78400645	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	18	11	.	.	ENST00000536525.2:c.1327T>C	p.Ser443Pro	p.S443P	ENST00000536525	NM_014903.4	443	Tca/Cca	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		29	1.78		HGNC	p.S443P	rs755256058	NAV3		SNV							ENST00000549464	protein_coding	getma.org/?cm=var&var=hg19,12,78400645,T,C&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		S/P		C	low	1500/9821	3.00E-05	getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=385&re=584&var=S443P	deleterious(0.05)	F8VZV4_HUMAN				NAV3,missense_variant,p.Ser443Pro,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ser443Pro,ENST00000228327,;NAV3,missense_variant,p.Ser443Pro,ENST00000266692,;NAV3,missense_variant,p.Ser443Pro,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Ser443Pro,ENST00000549464,;NAV3,downstream_gene_variant,,ENST00000550503,;NAV3,downstream_gene_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;							MODERATE	1327/7158	S443P	NAV3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000381007	1.66E-05	CCDS66432.1			1	
ZNF17	0	LGGM	GRCh37	19	57931958	57931958	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	29	12	.	.	ENST00000601808.1:c.1098C>T	p.Phe366=	p.F366=	ENST00000601808	NM_006959.2	366	ttC/ttT	0	1	1	UPI00001D8198	0		ENST00000601808		ENSG00000186272	12958		41			HGNC	p.F368F		ZNF17		SNV							ENST00000307658	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,SMART_domains:SM00355,Superfamily_domains:SSF57667		F		T		1311/2524							YES	ZNF17,synonymous_variant,p.=,ENST00000307658,;ZNF17,synonymous_variant,p.=,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,;							LOW	1098/1989		ZNF17_HUMAN			Transcript			.	ENSP00000471905		CCDS42636.1			1	
NRXN3	0	LGGM	GRCh37	14	79175790	79175790	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	13	.	.	ENST00000554719.1:c.333C>A	p.Ile111=	p.I111=	ENST00000554719	NM_004796.5	111	atC/atA	0	1	1	UPI0000167BBA	0		ENST00000554719		ENSG00000021645	8010		38			HGNC	p.I111I		NRXN3		SNV							ENST00000335750	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		I		A		824/4156				G3V4R9_HUMAN,G3V247_HUMAN			YES	NRXN3,synonymous_variant,p.=,ENST00000554719,NM_004796.5;NRXN3,synonymous_variant,p.=,ENST00000335750,;NRXN3,synonymous_variant,p.=,ENST00000557081,;NRXN3,synonymous_variant,p.=,ENST00000553631,;RP11-232C2.2,intron_variant,,ENST00000555680,;NRXN3,synonymous_variant,p.=,ENST00000554738,;NRXN3,non_coding_transcript_exon_variant,,ENST00000556496,;							LOW	333/3186		NRX3A_HUMAN			Transcript			.	ENSP00000451648		CCDS9870.1			1	
C3	0	LGGM	GRCh37	19	6718117	6718117	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	20	13	.	.	ENST00000245907.6:c.492G>C	p.Met164Ile	p.M164I	ENST00000245907	NM_000064.2	164	atG/atC	0	1	1	UPI000013EC9B	0	getma.org/pdb.php?prot=CO3_HUMAN&from=129&to=224&var=M164I	ENST00000245907		ENSG00000125730	1318		33	-0.985		HGNC	p.M164I		C3		SNV			1				ENST00000245907	protein_coding	getma.org/?cm=var&var=hg19,19,6718117,C,G&fts=all		Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81		M/I		G	neutral	585/5263		getma.org/?cm=msa&ty=f&p=CO3_HUMAN&rb=129&re=224&var=M164I	tolerated(1)	Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	C3,missense_variant,p.Met164Ile,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,,ENST00000594936,;C3,upstream_gene_variant,,ENST00000595577,;							MODERATE	492/4992	M164I	CO3_HUMAN			Transcript		benign(0)	.	ENSP00000245907		CCDS32883.1			1	
SMG5	0	LGGM	GRCh37	1	156236418	156236418	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	13	.	.	ENST00000361813.5:c.1169A>G	p.His390Arg	p.H390R	ENST00000361813	NM_015327.2	390	cAc/cGc	0	1	1	UPI0000050C24	0	NA	ENST00000361813		ENSG00000198952	24644		34	1.78		HGNC	p.H390R		SMG5		SNV							ENST00000361813	protein_coding	getma.org/?cm=var&var=hg19,1,156236418,T,C&fts=all		Pfam_domain:PF10373,hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1,Superfamily_domains:SSF48452		H/R		C	low	1314/4559		getma.org/?cm=msa&ty=f&p=SMG5_HUMAN&rb=197&re=433&var=H390R	deleterious(0)				YES	SMG5,missense_variant,p.His390Arg,ENST00000361813,NM_015327.2;SMG5,intron_variant,,ENST00000368267,;SMG5,non_coding_transcript_exon_variant,,ENST00000489907,;							MODERATE	1169/3051	H390R	SMG5_HUMAN			Transcript		benign(0.126)	.	ENSP00000355261		CCDS1137.1			1	
ABCB6	0	LGGM	GRCh37	2	220078383	220078383	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	17	14	.	.	ENST00000265316.3:c.1584G>T	p.Gly528=	p.G528=	ENST00000265316	NM_005689.2	528	ggG/ggT	0	1	1	UPI000004C4BA	0		ENST00000265316		ENSG00000115657	47		31			HGNC	p.G528G		ABCB6		SNV			1				ENST00000265316	protein_coding			PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123		G		A		1901/3016				U3THN0_HUMAN,H7C1R6_HUMAN			YES	ABCB6,synonymous_variant,p.=,ENST00000265316,NM_005689.2;ABCB6,synonymous_variant,p.=,ENST00000439002,;ABCB6,synonymous_variant,p.=,ENST00000295750,;ZFAND2B,downstream_gene_variant,,ENST00000409594,;ZFAND2B,downstream_gene_variant,,ENST00000409097,;ZFAND2B,downstream_gene_variant,,ENST00000444522,;ZFAND2B,downstream_gene_variant,,ENST00000289528,NM_001270999.1,NM_138802.2,NM_001270998.1;ZFAND2B,downstream_gene_variant,,ENST00000409206,;ZFAND2B,downstream_gene_variant,,ENST00000409336,;ZFAND2B,downstream_gene_variant,,ENST00000409217,;ZFAND2B,downstream_gene_variant,,ENST00000425849,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,3_prime_UTR_variant,,ENST00000448398,;ABCB6,non_coding_transcript_exon_variant,,ENST00000497882,;ABCB6,non_coding_transcript_exon_variant,,ENST00000494639,;ZFAND2B,downstream_gene_variant,,ENST00000464902,;ZFAND2B,downstream_gene_variant,,ENST00000448496,;ZFAND2B,downstream_gene_variant,,ENST00000475533,;ABCB6,upstream_gene_variant,,ENST00000485773,;ZFAND2B,downstream_gene_variant,,ENST00000486734,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,downstream_gene_variant,,ENST00000417678,;ABCB6,upstream_gene_variant,,ENST00000487380,;ABCB6,downstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000443805,;ABCB6,downstream_gene_variant,,ENST00000492953,;ABCB6,downstream_gene_variant,,ENST00000452545,;							LOW	1584/2529		ABCB6_HUMAN			Transcript			.	ENSP00000265316		CCDS2436.1			1	
OXR1	0	LGGM	GRCh37	8	107696576	107696576	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	44	15	.	.	ENST00000442977.2:c.517G>T	p.Asp173Tyr	p.D173Y	ENST00000442977	NM_001198532.1	173	Gat/Tat	0	1	1	UPI0001914BEA	0	NA	ENST00000442977		ENSG00000164830	15822		59	1.04		HGNC	p.D172Y		OXR1		SNV							ENST00000445937	protein_coding	getma.org/?cm=var&var=hg19,8,107696576,G,T&fts=all		hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF69		D/Y		T	low	616/2956		getma.org/?cm=msa&ty=f&p=OXR1_HUMAN&rb=144&re=198&var=D173Y	deleterious(0)	E9PLW2_HUMAN			YES	OXR1,missense_variant,p.Asp172Tyr,ENST00000445937,NM_018002.3;OXR1,missense_variant,p.Asp172Tyr,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Asp165Tyr,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Asp172Tyr,ENST00000531443,;OXR1,missense_variant,p.Asp173Tyr,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Asp105Tyr,ENST00000497705,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,downstream_gene_variant,,ENST00000517686,;OXR1,non_coding_transcript_exon_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;							MODERATE	517/2625	D173Y	OXR1_HUMAN			Transcript		possibly_damaging(0.806)	.	ENSP00000405424		CCDS56548.1			1	
TTN	0	LGGM	GRCh37	2	179621084	179621084	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	39	15	.	.	ENST00000589042.1:c.11119A>C	p.Lys3707Gln	p.K3707Q	ENST00000589042	NM_001267550.1	3707	Aaa/Caa	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		54			HGNC	p.K3707Q		TTN		SNV			1				ENST00000589042	protein_coding							G		-/104301				C9JQJ2_HUMAN				TTN,missense_variant,p.Lys3707Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Lys3536Gln,ENST00000342175,NM_133437.3;TTN,intron_variant,,ENST00000591111,;TTN,intron_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,intron_variant,,ENST00000359218,NM_133432.3;TTN,intron_variant,,ENST00000460472,NM_003319.4;TTN,intron_variant,,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000578746,;TTN-AS1,intron_variant,,ENST00000590773,;TTN-AS1,upstream_gene_variant,,ENST00000610005,;							MODIFIER	-/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CHN1	0	LGGM	GRCh37	2	175742792	175742792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	29	15	.	.	ENST00000409900.3:c.325C>T	p.Arg109Cys	p.R109C	ENST00000409900	NM_001822.5	109	Cgc/Tgc	0	1	1	UPI000012781D	0	getma.org/pdb.php?prot=CHIN_HUMAN&from=49&to=119&var=R109C	ENST00000409900		ENSG00000128656	1943		44	1.815		HGNC	p.R109C	rs777005219	CHN1		SNV			1				ENST00000409156	protein_coding	getma.org/?cm=var&var=hg19,2,175742792,G,A&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF6,Pfam_domain:PF00017,Gene3D:3.30.505.10,PIRSF_domain:PIRSF038015,SMART_domains:SM00252,Superfamily_domains:SSF55550		R/C		A	low	639/2447	1.50E-05	getma.org/?cm=msa&ty=f&p=CHIN_HUMAN&rb=49&re=119&var=R109C	deleterious(0.04)	C9J3G1_HUMAN			YES	CHN1,missense_variant,p.Arg109Cys,ENST00000409900,NM_001822.5;CHN1,missense_variant,p.Arg109Cys,ENST00000409156,NM_001025201.3;CHN1,non_coding_transcript_exon_variant,,ENST00000469597,;CHN1,intron_variant,,ENST00000488080,;CHN1,upstream_gene_variant,,ENST00000481174,;CHN1,non_coding_transcript_exon_variant,,ENST00000490654,;CHN1,intron_variant,,ENST00000425395,;							MODERATE	325/1380	R109C	CHIN_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000386741	8.27E-06	CCDS46455.1			1	
WDR87	0	LGGM	GRCh37	19	38386072	38386072	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	20	15	.	.	ENST00000303868.5:c.154A>G	p.Thr52Ala	p.T52A	ENST00000303868	NM_031951.3	52	Act/Gct	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		35	1.1		HGNC	p.T52A		WDR87		SNV							ENST00000303868	protein_coding	getma.org/?cm=var&var=hg19,19,38386072,T,C&fts=all		hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		T/A		C	low	379/8847		getma.org/?cm=msa&ty=f&p=WDR87_HUMAN&rb=1&re=200&var=T52A		B4DXE9_HUMAN			YES	WDR87,missense_variant,p.Thr91Ala,ENST00000447313,;WDR87,missense_variant,p.Thr52Ala,ENST00000303868,NM_031951.3;WDR87,downstream_gene_variant,,ENST00000473328,;							MODERATE	154/8622	T52A	WDR87_HUMAN			Transcript		benign(0.041)	.	ENSP00000368025		CCDS46063.1			1	
OR52M1	0	LGGM	GRCh37	11	4566766	4566766	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	15	.	.	ENST00000360213.1:c.346A>G	p.Ile116Val	p.I116V	ENST00000360213	NM_001004137.1	116	Atc/Gtc	0	1	1	UPI0000041C62	0	getma.org/pdb.php?prot=O52M1_HUMAN&from=1&to=140&var=I116V	ENST00000360213		ENSG00000197790	15225		31	-0.27		HGNC	p.I116V		OR52M1		SNV							ENST00000360213	protein_coding	getma.org/?cm=var&var=hg19,11,4566766,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF10320,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF129,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/V		G	neutral	346/954		getma.org/?cm=msa&ty=f&p=O52M1_HUMAN&rb=1&re=140&var=I116V	tolerated(0.24)				YES	OR52M1,missense_variant,p.Ile116Val,ENST00000360213,NM_001004137.1;							MODERATE	346/954	I116V	O52M1_HUMAN			Transcript		benign(0.032)	.	ENSP00000353343		CCDS31353.1			1	
PPP2R5D	0	LGGM	GRCh37	6	42974387	42974387	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	18	15	.	.	ENST00000485511.1:c.292C>G	p.Arg98Gly	p.R98G	ENST00000485511	NM_001270476.1	98	Cgg/Ggg	0	1	1	UPI0000124E92	0	NA	ENST00000485511		ENSG00000112640	9312		33	2.415		HGNC	p.R98G		PPP2R5D		SNV			1				ENST00000485511	protein_coding	getma.org/?cm=var&var=hg19,6,42974387,C,G&fts=all		hmmpanther:PTHR10257:SF14,hmmpanther:PTHR10257,PIRSF_domain:PIRSF028043		R/G		G	medium	471/3044		getma.org/?cm=msa&ty=f&p=2A5D_HUMAN&rb=1&re=101&var=R98G	tolerated(0.07)				YES	PPP2R5D,missense_variant,p.Arg98Gly,ENST00000485511,NM_001270476.1,NM_006245.3;PPP2R5D,missense_variant,p.Arg90Gly,ENST00000472118,;PPP2R5D,missense_variant,p.Arg18Gly,ENST00000470467,;PPP2R5D,intron_variant,,ENST00000394110,NM_180976.2;PPP2R5D,intron_variant,,ENST00000461010,NM_180977.2;PPP2R5D,upstream_gene_variant,,ENST00000486843,;PPP2R5D,missense_variant,p.Ile103Met,ENST00000230402,;PPP2R5D,upstream_gene_variant,,ENST00000467447,;PPP2R5D,upstream_gene_variant,,ENST00000482315,;							MODERATE	292/1809	R98G	2A5D_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000417963		CCDS4878.1			1	
CHMP7	0	LGGM	GRCh37	8	23114096	23114096	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091616	H091616N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	33	16	.	.	ENST00000397677.1:c.781G>C	p.Glu261Gln	p.E261Q	ENST00000397677	NM_152272.3	261	Gaa/Caa	0	1		UPI0000049FB7	0	NA	ENST00000313219		ENSG00000147457	28439		49	2.19		HGNC	p.E261Q		CHMP7		SNV							ENST00000313219	protein_coding	getma.org/?cm=var&var=hg19,8,23114096,G,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03357,hmmpanther:PTHR22761,hmmpanther:PTHR22761:SF6,Low_complexity_(Seg):seg		E/Q		C	medium	833/2814		getma.org/?cm=msa&ty=f&p=CHMP7_HUMAN&rb=241&re=406&var=E261Q	deleterious(0.03)	E5RJI3_HUMAN,B3KRZ9_HUMAN,B3KMN6_HUMAN				CHMP7,missense_variant,p.Glu261Gln,ENST00000397677,NM_152272.3;CHMP7,missense_variant,p.Glu261Gln,ENST00000313219,;CHMP7,downstream_gene_variant,,ENST00000519984,;CHMP7,upstream_gene_variant,,ENST00000520102,;CHMP7,3_prime_UTR_variant,,ENST00000517325,;CHMP7,3_prime_UTR_variant,,ENST00000519503,;CHMP7,non_coding_transcript_exon_variant,,ENST00000523091,;CHMP7,intron_variant,,ENST00000519529,;CHMP7,downstream_gene_variant,,ENST00000519414,;CHMP7,upstream_gene_variant,,ENST00000521656,;							MODERATE	781/1362	E261Q	CHMP7_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000324491		CCDS6040.1			1	
PABPC3	0	LGGM	GRCh37	13	25671644	25671644	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	31	16	.	.	ENST00000281589.3:c.1308C>A	p.Ala436=	p.A436=	ENST00000281589	NM_030979.2	436	gcC/gcA	0	1	1	UPI00001311AB	0		ENST00000281589		ENSG00000151846	8556		47			HGNC	p.A436A		PABPC3		SNV							ENST00000281589	protein_coding			TIGRFAM_domain:TIGR01628,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF239		A		A		1345/3090				Q5VX58_HUMAN,Q2VIP3_HUMAN			YES	PABPC3,synonymous_variant,p.=,ENST00000281589,NM_030979.2;							LOW	1308/1896		PABP3_HUMAN			Transcript			.	ENSP00000281589		CCDS9311.1			1	
CCDC88A	0	LGGM	GRCh37	2	55563875	55563875	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	21	17	.	.	ENST00000336838.6:c.1598A>G	p.Lys533Arg	p.K533R	ENST00000336838		533	aAg/aGg	0	1		UPI000150AEEC	0	NA	ENST00000436346		ENSG00000115355	25523		38	2.045		HGNC	p.K533R		CCDC88A		SNV							ENST00000436346	protein_coding	getma.org/?cm=var&var=hg19,2,55563875,T,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05622,hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30		K/R		C	medium	2440/9811		getma.org/?cm=msa&ty=f&p=GRDN_HUMAN&rb=10&re=590&var=K533R	tolerated(0.27)	C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,missense_variant,p.Lys533Arg,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,missense_variant,p.Lys533Arg,ENST00000263630,NM_018084.4;CCDC88A,missense_variant,p.Lys533Arg,ENST00000336838,;CCDC88A,missense_variant,p.Lys533Arg,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,;							MODERATE	1598/5616	K533R	GRDN_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000410608					1	
C22orf31	0	LGGM	GRCh37	22	29454820	29454820	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	18	.	.	ENST00000216071.4:c.783T>A	p.Ala261=	p.A261=	ENST00000216071	NM_015370.1	261	gcT/gcA	0	1	1	UPI0000073FE0	0		ENST00000216071		ENSG00000100249	26931		43			HGNC	p.A261A		C22orf31		SNV							ENST00000216071	protein_coding			Pfam_domain:PF15578,hmmpanther:PTHR15578		A		T		835/995							YES	C22orf31,synonymous_variant,p.=,ENST00000216071,NM_015370.1;ZNRF3,downstream_gene_variant,,ENST00000544604,NM_001206998.1;ZNRF3,downstream_gene_variant,,ENST00000332811,;ZNRF3,downstream_gene_variant,,ENST00000406323,;							LOW	783/873		CV031_HUMAN			Transcript			.	ENSP00000216071		CCDS13848.1			1	
C22orf31	0	LGGM	GRCh37	22	29454829	29454829	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	25	19	.	.	ENST00000216071.4:c.774T>C	p.Ser258=	p.S258=	ENST00000216071	NM_015370.1	258	tcT/tcC	0	1	1	UPI0000073FE0	0		ENST00000216071		ENSG00000100249	26931		44			HGNC	p.S258S		C22orf31		SNV							ENST00000216071	protein_coding			Pfam_domain:PF15578,hmmpanther:PTHR15578		S		G		826/995							YES	C22orf31,synonymous_variant,p.=,ENST00000216071,NM_015370.1;ZNRF3,downstream_gene_variant,,ENST00000544604,NM_001206998.1;ZNRF3,downstream_gene_variant,,ENST00000332811,;ZNRF3,downstream_gene_variant,,ENST00000406323,;							LOW	774/873		CV031_HUMAN			Transcript			.	ENSP00000216071		CCDS13848.1			1	
TATDN1	0	LGGM	GRCh37	8	125528184	125528184	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	16	19	.	.	ENST00000276692.6:c.290T>A	p.Leu97Gln	p.L97Q	ENST00000276692	NM_032026.3	97	cTa/cAa	0	1	1	UPI000006F5CF	0	getma.org/pdb.php?prot=TATD1_HUMAN&from=7&to=294&var=L97Q	ENST00000276692		ENSG00000147687	24220		35	0.23		HGNC	p.L50Q		TATDN1		SNV							ENST00000523888	protein_coding	getma.org/?cm=var&var=hg19,8,125528184,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF15,Pfam_domain:PF01026,Gene3D:3.20.20.140,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556		L/Q		T	neutral	328/1018		getma.org/?cm=msa&ty=f&p=TATD1_HUMAN&rb=7&re=294&var=L97Q	tolerated(0.38)	E5RK70_HUMAN			YES	TATDN1,missense_variant,p.Leu97Gln,ENST00000276692,NM_032026.3;TATDN1,missense_variant,p.Leu97Gln,ENST00000522810,;TATDN1,missense_variant,p.Leu50Gln,ENST00000519548,NM_001146160.1;TATDN1,missense_variant,p.Leu43Gln,ENST00000517678,;TATDN1,missense_variant,p.Leu97Gln,ENST00000605953,;TATDN1,missense_variant,p.Leu37Gln,ENST00000523152,;TATDN1,missense_variant,p.Leu127Gln,ENST00000519232,;TATDN1,missense_variant,p.Leu50Gln,ENST00000523888,;TATDN1,non_coding_transcript_exon_variant,,ENST00000521546,;TATDN1,non_coding_transcript_exon_variant,,ENST00000521973,;TATDN1,non_coding_transcript_exon_variant,,ENST00000518133,;TATDN1,missense_variant,p.Leu97Gln,ENST00000523214,;TATDN1,3_prime_UTR_variant,,ENST00000520938,;TATDN1,3_prime_UTR_variant,,ENST00000519776,;TATDN1,3_prime_UTR_variant,,ENST00000522310,;TATDN1,3_prime_UTR_variant,,ENST00000520321,;TATDN1,intron_variant,,ENST00000522927,;							MODERATE	290/894	L97Q	TATD1_HUMAN			Transcript		benign(0.032)	.	ENSP00000276692		CCDS6351.1			1	
ZNF600	0	LGGM	GRCh37	19	53269030	53269030	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	39	20	.	.	ENST00000338230.3:c.1979A>G	p.His660Arg	p.H660R	ENST00000338230	NM_198457.2	660	cAt/cGt	0	1	1	UPI0000366E5E	0	getma.org/pdb.php?prot=ZN600_HUMAN&from=652&to=677&var=H660R	ENST00000338230		ENSG00000189190	30951		59	2.85		HGNC	p.H660R		ZNF600		SNV							ENST00000338230	protein_coding	getma.org/?cm=var&var=hg19,19,53269030,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF233,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/R		C	medium	2247/3829		getma.org/?cm=msa&ty=f&p=ZN600_HUMAN&rb=632&re=697&var=H660R	deleterious(0.01)				YES	ZNF600,missense_variant,p.His660Arg,ENST00000338230,NM_198457.2;							MODERATE	1979/2169	H660R	ZN600_HUMAN			Transcript		benign(0.011)	.	ENSP00000344791		CCDS12856.1			1	
TEX35	0	LGGM	GRCh37	1	178490700	178490700	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	45	23	.	.	ENST00000319416.2:c.586+301T>C		*196*	ENST00000319416	NM_032126.4			0	1	1	UPI00001405CF	0		ENST00000319416		ENSG00000240021	25366		68			HGNC	p.Y33H		TEX35		SNV							ENST00000442872	protein_coding							C		-/1023							YES	TEX35,missense_variant,p.Tyr33His,ENST00000442872,;TEX35,3_prime_UTR_variant,,ENST00000367642,;TEX35,3_prime_UTR_variant,,ENST00000367641,;TEX35,intron_variant,,ENST00000319416,NM_032126.4;TEX35,intron_variant,,ENST00000258298,;TEX35,intron_variant,,ENST00000367643,NM_001170723.1;TEX35,intron_variant,,ENST00000367639,NM_001170724.1,NM_001170722.1;TEX35,intron_variant,,ENST00000419909,;							MODIFIER	-/702		TEX35_HUMAN			Transcript			.	ENSP00000323795		CCDS1323.1			1	
GPR98	0	LGGM	GRCh37	5	90106415	90106415	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091616	H091616N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	54	25	.	.	ENST00000405460.2:c.15338T>A	p.Leu5113Gln	p.L5113Q	ENST00000405460	NM_032119.3	5113	cTg/cAg	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		79	1.955		HGNC	p.L5113Q		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90106415,T,A&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		L/Q		A	medium	15434/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=5096&re=5279&var=L5113Q					YES	GPR98,missense_variant,p.Leu5113Gln,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Leu774Gln,ENST00000425867,;GPR98,downstream_gene_variant,,ENST00000513828,;							MODERATE	15338/18921	L5113Q	GPR98_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000384582		CCDS47246.1			1	
PCDHB10	0	LGGM	GRCh37	5	140573399	140573399	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091616	H091616N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	47	28	.	.	ENST00000239446.4:c.1274A>G	p.Asp425Gly	p.D425G	ENST00000239446	NM_018930.3	425	gAc/gGc	0	1	1	UPI0000048F2E	0	getma.org/pdb.php?prot=PCDBA_HUMAN&from=352&to=442&var=D425G	ENST00000239446		ENSG00000120324	8681		75	5.085		HGNC	p.D425G		PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140573399,A,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/G		G	high	1458/3274		getma.org/?cm=msa&ty=f&p=PCDBA_HUMAN&rb=352&re=442&var=D425G	deleterious_low_confidence(0)	O95883_HUMAN			YES	PCDHB10,missense_variant,p.Asp425Gly,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							MODERATE	1274/2403	D425G	PCDBA_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000239446		CCDS4252.1			1	
HAS2	0	LGGM	GRCh37	8	122626738	122626738	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091616	H091616N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091616N.bam, H091616T.bam	Illumina HiSeq	53	38	.	.	ENST00000303924.4:c.1270G>A	p.Ala424Thr	p.A424T	ENST00000303924	NM_005328.2	424	Gcc/Acc	0	1	1	UPI000012C0A9	0	NA	ENST00000303924		ENSG00000170961	4819		91	2.89		HGNC	p.A424T		HAS2		SNV							ENST00000303924	protein_coding	getma.org/?cm=var&var=hg19,8,122626738,C,T&fts=all		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7		A/T		T	medium	1808/4190		getma.org/?cm=msa&ty=f&p=HAS2_HUMAN&rb=199&re=465&var=A424T	deleterious(0)				YES	HAS2,missense_variant,p.Ala424Thr,ENST00000303924,NM_005328.2;							MODERATE	1270/1659	A424T	HYAS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000306991		CCDS6335.1			1	
AKNA	0	LGGM	GRCh37	9	117099577	117099577	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	9	2	.	.	ENST00000307564.4:c.4077G>T	p.Ala1359=	p.A1359=	ENST00000307564	NM_030767.4	1359	gcG/gcT	0	1	1	UPI000021168C	0		ENST00000307564		ENSG00000106948	24108		11			HGNC	p.A819A		AKNA		SNV							ENST00000223791	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510		A		A		4239/7380							YES	AKNA,synonymous_variant,p.=,ENST00000307564,NM_030767.4;AKNA,synonymous_variant,p.=,ENST00000374088,;AKNA,synonymous_variant,p.=,ENST00000374075,;AKNA,synonymous_variant,p.=,ENST00000223791,;AKNA,synonymous_variant,p.=,ENST00000374079,;ORM2,downstream_gene_variant,,ENST00000431067,NM_000608.2;AKNA,non_coding_transcript_exon_variant,,ENST00000492875,;							LOW	4077/4320		AKNA_HUMAN			Transcript			.	ENSP00000303769		CCDS6805.1			1	
CDHR5	0	LGGM	GRCh37	11	619357	619357	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	19	3	.	.	ENST00000358353.3:c.1327G>A	p.Ala443Thr	p.A443T	ENST00000358353		443	Gca/Aca	0	1	1	UPI0000456444	0	NA	ENST00000358353		ENSG00000099834	7521		22	1.04		HGNC	p.A443T	rs538514960,COSM929575	CDHR5		SNV				0.000195		0,1	ENST00000397542	protein_coding	getma.org/?cm=var&var=hg19,11,619357,C,T&fts=all	T:0.0008	Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF121,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		A/T		T	low	1650/3635	4.57E-05	getma.org/?cm=msa&ty=f&p=CDHR5_HUMAN&rb=355&re=459&var=A443T	deleterious(0.04)		T:0	T:0	YES	CDHR5,missense_variant,p.Ala443Thr,ENST00000358353,;CDHR5,missense_variant,p.Ala443Thr,ENST00000397542,NM_021924.4,NM_001171968.1;CDHR5,missense_variant,p.Ala443Thr,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,,ENST00000529337,;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,,ENST00000525750,;IRF7,upstream_gene_variant,,ENST00000527160,;		T:0.0002			0,1		MODERATE	1327/2538	A443T	CDHR5_HUMAN		T:0	Transcript		benign(0.013)	.	ENSP00000351118	4.12E-05	CCDS7707.1		T:0	1	
RBM6	0	LGGM	GRCh37	3	50006098	50006098	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	35	3	.	.	ENST00000266022.4:c.1240C>A	p.Pro414Thr	p.P414T	ENST00000266022	NM_005777.2	414	Cca/Aca	0	1	1	UPI000013D6C0	0	NA	ENST00000266022		ENSG00000004534	9903		38	0.805		HGNC	p.P282T		RBM6		SNV							ENST00000443081	protein_coding	getma.org/?cm=var&var=hg19,3,50006098,C,A&fts=all		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF22,Superfamily_domains:SSF54928		P/T		A	low	1499/3748		getma.org/?cm=msa&ty=f&p=RBM6_HUMAN&rb=390&re=457&var=P414T	deleterious(0.03)	E9PGM9_HUMAN,C9JSL1_HUMAN,C9JMC8_HUMAN,C9JII0_HUMAN,B4DNY1_HUMAN			YES	RBM6,missense_variant,p.Pro282Thr,ENST00000443081,;RBM6,missense_variant,p.Pro414Thr,ENST00000266022,NM_005777.2;RBM6,intron_variant,,ENST00000422955,;RBM6,intron_variant,,ENST00000442092,NM_001167582.1;RBM6,intron_variant,,ENST00000539992,;RBM6,downstream_gene_variant,,ENST00000433811,;RBM6,intron_variant,,ENST00000441115,;RBM6,downstream_gene_variant,,ENST00000488807,;RBM6,downstream_gene_variant,,ENST00000491874,;RBM6,missense_variant,p.Pro282Thr,ENST00000454079,;RBM6,missense_variant,p.Pro414Thr,ENST00000425608,;RBM6,intron_variant,,ENST00000434592,;RBM6,intron_variant,,ENST00000419610,;							MODERATE	1240/3372	P414T	RBM6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000266022		CCDS2809.1			1	
TNFRSF11B	0	LGGM	GRCh37	8	119945316	119945316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	45	3	.	.	ENST00000297350.4:c.254C>A	p.Pro85His	p.P85H	ENST00000297350	NM_002546.3	85	cCc/cAc	0	1	1	UPI0000157F05	0	getma.org/pdb.php?prot=TR11B_HUMAN&from=65&to=105&var=P85H	ENST00000297350		ENSG00000164761	11909		48	0.345		HGNC	p.P85H		TNFRSF11B		SNV			1				ENST00000517352	protein_coding	getma.org/?cm=var&var=hg19,8,119945316,G,T&fts=all		Pfam_domain:PF00020,PIRSF_domain:PIRSF038065,Prints_domain:PR01975,PROSITE_profiles:PS50050,hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF90,SMART_domains:SM00208		P/H		T	neutral	633/2402		getma.org/?cm=msa&ty=f&p=TR11B_HUMAN&rb=65&re=105&var=P85H	tolerated(0.1)				YES	TNFRSF11B,missense_variant,p.Pro85His,ENST00000297350,NM_002546.3;TNFRSF11B,missense_variant,p.Pro85His,ENST00000517352,;TNFRSF11B,upstream_gene_variant,,ENST00000521597,;							MODERATE	254/1206	P85H	TR11B_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000297350		CCDS6326.1			1	
NOTCH2	0	LGGM	GRCh37	1	120459260	120459260	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	29	3	.	.	ENST00000256646.2:c.6085C>T	p.Leu2029=	p.L2029=	ENST00000256646	NM_024408.3	2029	Ctg/Ttg	0	1	1	UPI000013CF1D	0		ENST00000256646		ENSG00000134250	7882		32			HGNC	p.L2029L		NOTCH2		SNV			1				ENST00000256646	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF00023,PIRSF_domain:PIRSF002279,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		A		6305/11389				Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,synonymous_variant,p.=,ENST00000256646,NM_024408.3;							LOW	6085/7416		NOTC2_HUMAN			Transcript			.	ENSP00000256646		CCDS908.1			1	
NXF2B	0	LGGM	GRCh37	X	101615564	101615564	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	47	3	.	.	ENST00000457521.2:c.1839C>A	p.Thr613=	p.T613=	ENST00000457521		613	acC/acA	0	1	1	UPI0000130AB1	0		ENST00000457521		ENSG00000185945	23984		50			HGNC	p.T613T		NXF2B		SNV							ENST00000457521	protein_coding			PROSITE_profiles:PS51281,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF15,Gene3D:1.10.8.10,Pfam_domain:PF03943,SMART_domains:SM00804,Superfamily_domains:SSF46934		T		T		3711/3959				D3DX98_HUMAN			YES	NXF2B,splice_region_variant,p.=,ENST00000457521,;NXF2B,splice_region_variant,p.=,ENST00000412230,;NXF2B,splice_region_variant,,ENST00000372752,;NXF2B,splice_region_variant,p.=,ENST00000372750,;NXF2B,splice_region_variant,p.=,ENST00000372749,NM_001099686.2;NXF2B,downstream_gene_variant,,ENST00000489531,;							LOW	1839/1881		NXF2_HUMAN			Transcript			.	ENSP00000396447		CCDS43979.1			1	
ZSCAN5B	0	LGGM	GRCh37	19	56701242	56701242	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	40	3	.	.	ENST00000586855.2:c.1442C>T	p.Thr481Ile	p.T481I	ENST00000586855		481	aCa/aTa	0	1		UPI000059D7BA	0	getma.org/pdb.php?prot=ZSA5B_HUMAN&from=479&to=495&var=T481I	ENST00000358992		ENSG00000197213	34246		43	1.5		HGNC	p.T481I		ZSCAN5B		SNV							ENST00000586855	protein_coding	getma.org/?cm=var&var=hg19,19,56701242,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF163,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/I		A	low	1442/1626		getma.org/?cm=msa&ty=f&p=ZSA5B_HUMAN&rb=449&re=495&var=T481I	deleterious(0.01)	K7ESD3_HUMAN,K7EJD1_HUMAN				ZSCAN5B,missense_variant,p.Thr481Ile,ENST00000586855,;ZSCAN5B,missense_variant,p.Thr481Ile,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,;							MODERATE	1442/1488	T481I	ZSA5B_HUMAN			Transcript		benign(0.169)	.	ENSP00000351883		CCDS46203.1			1	
PLXNA4	0	LGGM	GRCh37	7	131878849	131878849	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	36	3	.	.	ENST00000359827.3:c.2828C>T	p.Ala943Val	p.A943V	ENST00000359827		943	gCc/gTc	0	1		UPI000004E55B	0	NA	ENST00000321063		ENSG00000221866	9102		39	2.8		HGNC	p.A943V		PLXNA4		SNV							ENST00000321063	protein_coding	getma.org/?cm=var&var=hg19,7,131878849,G,A&fts=all		hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Gene3D:2.60.40.10,SMART_domains:SM00429,Superfamily_domains:SSF81296		A/V		A	medium	3057/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=858&re=951&var=A943V	deleterious(0)					PLXNA4,missense_variant,p.Ala943Val,ENST00000359827,;PLXNA4,missense_variant,p.Ala943Val,ENST00000321063,NM_020911.1;							MODERATE	2828/5685	A943V	PLXA4_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000323194		CCDS43646.1			1	
TYRO3	0	LGGM	GRCh37	15	41865634	41865634	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	41	3	.	.	ENST00000263798.3:c.2114C>T	p.Ala705Val	p.A705V	ENST00000263798	NM_006293.3	705	gCc/gTc	0	1	1	UPI000013788A	0	getma.org/pdb.php?prot=TYRO3_HUMAN&from=518&to=786&var=A705V	ENST00000263798		ENSG00000092445	12446		44	0.615		HGNC	p.A660V	COSM3969099,COSM3969098	TYRO3		SNV						1,1	ENST00000559066	protein_coding	getma.org/?cm=var&var=hg19,15,41865634,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF279,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112		A/V		T	neutral	2338/3949		getma.org/?cm=msa&ty=f&p=TYRO3_HUMAN&rb=518&re=786&var=A705V	deleterious(0)	Q8N6J3_HUMAN,H0YNK6_HUMAN,B4DIA4_HUMAN			YES	TYRO3,missense_variant,p.Ala705Val,ENST00000263798,NM_006293.3;TYRO3,missense_variant,p.Ala660Val,ENST00000559066,;TYRO3,missense_variant,p.Ala182Val,ENST00000568343,;TYRO3,3_prime_UTR_variant,,ENST00000559851,;TYRO3,upstream_gene_variant,,ENST00000568490,;TYRO3,downstream_gene_variant,,ENST00000560162,;TYRO3,downstream_gene_variant,,ENST00000559815,;					1,1		MODERATE	2114/2673	A705V	TYRO3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263798		CCDS10080.1			1	
LIMD1	0	LGGM	GRCh37	3	45636975	45636975	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	32	3	.	.	ENST00000273317.4:c.604C>A	p.Leu202Met	p.L202M	ENST00000273317	NM_014240.2	202	Ctg/Atg	0	1	1	UPI0000043C33	0	NA	ENST00000273317		ENSG00000144791	6612		35	0.695		HGNC	p.L202M		LIMD1		SNV							ENST00000440097	protein_coding	getma.org/?cm=var&var=hg19,3,45636975,C,A&fts=all		hmmpanther:PTHR24219,hmmpanther:PTHR24219:SF3,Low_complexity_(Seg):seg		L/M		A	neutral	625/11331		getma.org/?cm=msa&ty=f&p=LIMD1_HUMAN&rb=66&re=265&var=L202M	tolerated(0.2)				YES	LIMD1,missense_variant,p.Leu202Met,ENST00000273317,NM_014240.2;LIMD1,missense_variant,p.Leu202Met,ENST00000440097,;AC099539.1,downstream_gene_variant,,ENST00000516118,;LIMD1,intron_variant,,ENST00000465039,;							MODERATE	604/2031	L202M	LIMD1_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000273317		CCDS2729.1			1	
ZXDB	0	LGGM	GRCh37	X	57620657	57620657	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	15	3	.	.	ENST00000374888.1:c.2176C>A	p.Pro726Thr	p.P726T	ENST00000374888	NM_007157.3	726	Ccc/Acc	0	1	1	UPI000013C495	0	NA	ENST00000374888		ENSG00000198455	13199		18	1.59		HGNC	p.P726T		ZXDB		SNV							ENST00000374888	protein_coding	getma.org/?cm=var&var=hg19,X,57620657,C,A&fts=all		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF72		P/T		A	low	2389/5638		getma.org/?cm=msa&ty=f&p=ZXDB_HUMAN&rb=573&re=772&var=P726T	deleterious(0.01)				YES	ZXDB,missense_variant,p.Pro726Thr,ENST00000374888,NM_007157.3;							MODERATE	2176/2412	P726T	ZXDB_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000364023		CCDS35313.1			1	
OR4C16	0	LGGM	GRCh37	11	55340448	55340448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	30	3	.	.	ENST00000314634.3:c.845C>A	p.Pro282His	p.P282H	ENST00000314634	NM_001004701.2	282	cCt/cAt	0	1	1	UPI000013F8A8	0	NA	ENST00000314634		ENSG00000181935	15172		33	2.575		HGNC	p.P282H		OR4C16		SNV							ENST00000314634	protein_coding	getma.org/?cm=var&var=hg19,11,55340448,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF223,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/H		A	medium	845/933		getma.org/?cm=msa&ty=f&p=OR4CG_HUMAN&rb=279&re=310&var=P282H	deleterious(0)				YES	OR4C16,missense_variant,p.Pro282His,ENST00000314634,NM_001004701.2;							MODERATE	845/933	P282H	OR4CG_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000324913		CCDS31502.1			1	
SCN11A	0	LGGM	GRCh37	3	38889148	38889148	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	33	3	.	.	ENST00000302328.3:c.4413C>T	p.Gly1471=	p.G1471=	ENST00000302328	NM_014139.2	1471	ggC/ggT	0	1	1	UPI000006CCD7	0		ENST00000302328		ENSG00000168356	10583		36			HGNC	p.G1471G		SCN11A		SNV			1				ENST00000450244	protein_coding			Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22,Superfamily_domains:SSF81324		G		A		4612/6500							YES	SCN11A,synonymous_variant,p.=,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000450244,NM_001287223.1;SCN11A,synonymous_variant,p.=,ENST00000456224,;SCN11A,downstream_gene_variant,,ENST00000444237,;							LOW	4413/5376		SCNBA_HUMAN			Transcript			.	ENSP00000307599		CCDS33737.1			1	
ESCO1	0	LGGM	GRCh37	18	19119891	19119891	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	46	3	.	.	ENST00000269214.5:c.2033C>T	p.Ala678Val	p.A678V	ENST00000269214	NM_052911.2	678	gCc/gTc	0	1	1	UPI00001C1FF4	0	NA	ENST00000269214		ENSG00000141446	24645		49	2.11		HGNC	p.A678V		ESCO1		SNV							ENST00000269214	protein_coding	getma.org/?cm=var&var=hg19,18,19119891,G,A&fts=all		hmmpanther:PTHR11076:SF26,hmmpanther:PTHR11076		A/V		A	medium	2971/4523		getma.org/?cm=msa&ty=f&p=ESCO1_HUMAN&rb=645&re=761&var=A678V	deleterious(0.01)				YES	ESCO1,missense_variant,p.Ala678Val,ENST00000269214,NM_052911.2;ESCO1,3_prime_UTR_variant,,ENST00000383276,;							MODERATE	2033/2523	A678V	ESCO1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000269214		CCDS32800.1			1	
CUX2	0	LGGM	GRCh37	12	111729289	111729289	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	35	3	.	.	ENST00000261726.6:c.369C>A	p.Pro123=	p.P123=	ENST00000261726	NM_015267.3	123	ccC/ccA	0	1	1	UPI00001FBB07	0		ENST00000261726		ENSG00000111249	19347		38			HGNC	p.P123P		CUX2		SNV							ENST00000261726	protein_coding			hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF5		P		A		523/6844				Q9BZX3_HUMAN,Q9BZV4_HUMAN			YES	CUX2,synonymous_variant,p.=,ENST00000261726,NM_015267.3;CUX2,synonymous_variant,p.=,ENST00000397643,;							LOW	369/4461		CUX2_HUMAN			Transcript			.	ENSP00000261726		CCDS41837.1			1	
ROBO4	0	LGGM	GRCh37	11	124766560	124766560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	18	3	.	.	ENST00000306534.3:c.407G>A	p.Arg136Gln	p.R136Q	ENST00000306534	NM_019055.5	136	cGg/cAg	0	1	1	UPI000004A023	0	getma.org/pdb.php?prot=ROBO4_HUMAN&from=133&to=136&var=R136Q	ENST00000306534		ENSG00000154133	17985		21	0.87		HGNC	p.R136Q	rs776913148	ROBO4		SNV							ENST00000306534	protein_coding	getma.org/?cm=var&var=hg19,11,124766560,C,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF1		R/Q		T	low	893/4710	3.09E-05	getma.org/?cm=msa&ty=f&p=ROBO4_HUMAN&rb=103&re=166&var=R136Q	tolerated(0.46)	B4DYV8_HUMAN			YES	ROBO4,missense_variant,p.Arg136Gln,ENST00000306534,NM_019055.5;ROBO4,5_prime_UTR_variant,,ENST00000533054,;RP11-664I21.6,downstream_gene_variant,,ENST00000524433,;ROBO4,non_coding_transcript_exon_variant,,ENST00000526899,;ROBO4,non_coding_transcript_exon_variant,,ENST00000527279,;ROBO4,non_coding_transcript_exon_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,;	0.000119						MODERATE	407/3024	R136Q	ROBO4_HUMAN			Transcript		benign(0.01)	.	ENSP00000304945	3.29E-05	CCDS8455.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	72	7	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	79			HGNC	p.P55P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000399808	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
KIAA1033	0	LGGM	GRCh37	12	105534093	105534093	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091652	H091652N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	80	4	.	.	ENST00000332180.5:c.1474A>G	p.Arg492Gly	p.R492G	ENST00000332180	NM_015275.1	492	Agg/Ggg	0	1	1	UPI00001C1F3B	0	NA	ENST00000332180		ENSG00000136051	29174		84	1.59		HGNC	p.R492G		KIAA1033		SNV			1				ENST00000332180	protein_coding	getma.org/?cm=var&var=hg19,12,105534093,A,G&fts=all		hmmpanther:PTHR31409,hmmpanther:PTHR31409:SF0,Pfam_domain:PF14745		R/G		G	low	1561/5812		getma.org/?cm=msa&ty=f&p=WASH7_HUMAN&rb=401&re=600&var=R492G	deleterious(0.04)	F8W1W1_HUMAN,F8VQX3_HUMAN,F8VNZ5_HUMAN			YES	KIAA1033,missense_variant,p.Arg492Gly,ENST00000332180,NM_015275.1;KIAA1033,3_prime_UTR_variant,,ENST00000550053,;KIAA1033,non_coding_transcript_exon_variant,,ENST00000311317,;KIAA1033,upstream_gene_variant,,ENST00000548534,;KIAA1033,upstream_gene_variant,,ENST00000550613,;							MODERATE	1474/3522	R492G	WASH7_HUMAN			Transcript		benign(0.188)	.	ENSP00000328062		CCDS41826.1			1	
RASEF	0	LGGM	GRCh37	9	85640745	85640745	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	75	5	.	.	ENST00000376447.3:c.523C>T	p.Arg175Cys	p.R175C	ENST00000376447	NM_152573.3	175	Cgt/Tgt	0	1	1	UPI0000074189	0	NA	ENST00000376447		ENSG00000165105	26464		80	1.59		HGNC	p.R175C	rs373085493	RASEF		SNV	A:0						ENST00000376447	protein_coding	getma.org/?cm=var&var=hg19,9,85640745,G,A&fts=all		hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2		R/C	A:0.0001	A	low	784/5576	6.00E-05	getma.org/?cm=msa&ty=f&p=RASEF_HUMAN&rb=72&re=181&var=R175C	deleterious(0)				YES	RASEF,missense_variant,p.Arg175Cys,ENST00000376447,NM_152573.3;							MODERATE	523/2223	R175C	RASEF_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000365630	3.29E-05	CCDS6662.1			1	
HHLA1	0	LGGM	GRCh37	8	133092114	133092114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091652	H091652N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	58	5	.	.	ENST00000434736.2:c.884C>A	p.Pro295His	p.P295H	ENST00000434736		295	cCc/cAc	0	1		UPI000192B909	0	NA	ENST00000414222		ENSG00000132297	4904		63	0.345		HGNC	p.P295H		HHLA1		SNV							ENST00000434736	protein_coding	getma.org/?cm=var&var=hg19,8,133092114,G,T&fts=all		hmmpanther:PTHR15299		P/H		T	neutral	776/4105		getma.org/?cm=msa&ty=f&p=HHLA1_HUMAN&rb=1&re=528&var=P259H	tolerated(0.58)					HHLA1,missense_variant,p.Pro259His,ENST00000414222,NM_001145095.1;HHLA1,missense_variant,p.Pro295His,ENST00000434736,;OC90,intron_variant,,ENST00000262283,;HHLA1,non_coding_transcript_exon_variant,,ENST00000473291,;							MODERATE	776/1596	P259H	HHLA1_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000388322					1	
C17orf97	0	LGGM	GRCh37	17	263321	263321	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	26	6	.	.	ENST00000360127.6:c.687C>T	p.Pro229=	p.P229=	ENST00000360127	NM_001013672.4	229	ccC/ccT	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800	0.000198	32			HGNC	p.P229P	rs782627723	C17orf97		SNV							ENST00000360127	protein_coding					P		T		703/1839	1.85E-05						YES	C17orf97,synonymous_variant,p.=,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							LOW	687/1272		CQ097_HUMAN			Transcript			.	ENSP00000353245	2.56E-05	CCDS32519.2			1	
LILRB5	0	LGGM	GRCh37	19	54760526	54760526	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091652	H091652N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	87	8	.	.	ENST00000449561.2:c.181G>A	p.Asp61Asn	p.D61N	ENST00000449561		61	Gat/Aat	0	1	1	UPI0000202BB5	0	getma.org/pdb.php?prot=LIRB5_HUMAN&from=28&to=117&var=D61N	ENST00000449561		ENSG00000105609	6609		95	1.33		HGNC	p.D61N		LILRB5		SNV							ENST00000316219	protein_coding	getma.org/?cm=var&var=hg19,19,54760526,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		D/N		T	low	252/2137		getma.org/?cm=msa&ty=f&p=LIRB5_HUMAN&rb=28&re=117&var=D61N	tolerated(0.3)				YES	LILRB5,missense_variant,p.Asp61Asn,ENST00000450632,;LILRB5,missense_variant,p.Asp61Asn,ENST00000316219,NM_001081442.1,NM_006840.3;LILRB5,missense_variant,p.Asp61Asn,ENST00000449561,;LILRB5,missense_variant,p.Asp61Asn,ENST00000345866,NM_001081443.1;LILRB5,splice_region_variant,,ENST00000466581,;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;							MODERATE	181/1776	D61N	LIRB5_HUMAN			Transcript		benign(0.16)	.	ENSP00000406478		CCDS46176.1			1	
CDC25A	0	LGGM	GRCh37	3	48219413	48219413	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091652	H091652N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091652N.bam, H091652T.bam	Illumina HiSeq	132	11	.	.	ENST00000302506.3:c.615A>G	p.Ser205=	p.S205=	ENST00000302506	NM_001789.2	205	tcA/tcG	0	1	1	UPI000006ED4E	0		ENST00000302506		ENSG00000164045	1725		143			HGNC	p.S205S	rs777256066	CDC25A		SNV							ENST00000302506	protein_coding			Pfam_domain:PF06617,hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF19		S		C		1024/3783	1.50E-05			K7N7S0_HUMAN,C9JH94_HUMAN			YES	CDC25A,synonymous_variant,p.=,ENST00000302506,NM_001789.2;CDC25A,synonymous_variant,p.=,ENST00000351231,NM_201567.1;CDC25A,synonymous_variant,p.=,ENST00000443342,;RNU7-128P,upstream_gene_variant,,ENST00000517247,;CDC25A,upstream_gene_variant,,ENST00000459900,;NDUFB1P1,upstream_gene_variant,,ENST00000435191,;							LOW	615/1575		MPIP1_HUMAN			Transcript			.	ENSP00000303706	8.24E-06	CCDS2760.1			1	
MBD3L2	0	LGGM	GRCh37	19	7051550	7051550	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	6	2	.	.	ENST00000381393.3:c.544G>T	p.Val182Leu	p.V182L	ENST00000381393	NM_144614.3	182	Gtg/Ttg	0	1	1	UPI000059D64D	0	NA	ENST00000381393		ENSG00000230522	18532		8	2.05		HGNC	p.V182L		MBD3L2		SNV							ENST00000381393	protein_coding	getma.org/?cm=var&var=hg19,19,7051550,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14048,hmmpanther:PTHR12396		V/L		T	medium	597/793		getma.org/?cm=msa&ty=f&p=MB3L2_HUMAN&rb=100&re=193&var=V182L	tolerated(0.07)				YES	MBD3L2,missense_variant,p.Val182Leu,ENST00000381393,NM_144614.3;MBD3L3,downstream_gene_variant,,ENST00000333843,NM_001164425.1;							MODERATE	544/627	V182L	MB3L2_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000370800		CCDS42483.1			1	
LMF1	0	LGGM	GRCh37	16	918965	918965	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	2	.	.	ENST00000262301.11:c.1508T>C	p.Phe503Ser	p.F503S	ENST00000262301	NM_022773.2	503	tTc/tCc	0	1	1	UPI000006E366	0	NA	ENST00000262301		ENSG00000103227	14154		16	3.245		HGNC	p.F503S		LMF1		SNV			1				ENST00000399843	protein_coding	getma.org/?cm=var&var=hg19,16,918965,A,G&fts=all		hmmpanther:PTHR14463,Pfam_domain:PF06762		F/S		G	medium	1527/2621		getma.org/?cm=msa&ty=f&p=LMF1_HUMAN&rb=169&re=551&var=F503S	deleterious(0)	H3BVI4_HUMAN,H3BN37_HUMAN,B3KS80_HUMAN			YES	LMF1,missense_variant,p.Phe503Ser,ENST00000262301,NM_022773.2;LMF1,missense_variant,p.Phe503Ser,ENST00000399843,;LMF1,missense_variant,p.Phe266Ser,ENST00000543238,;LMF1,missense_variant,p.Phe286Ser,ENST00000568897,;LMF1,downstream_gene_variant,,ENST00000570014,;LMF1,downstream_gene_variant,,ENST00000566627,;LMF1,downstream_gene_variant,,ENST00000568268,;LMF1,downstream_gene_variant,,ENST00000570168,;LMF1,missense_variant,p.Ser2Pro,ENST00000565276,;LMF1,3_prime_UTR_variant,,ENST00000545827,;LMF1,non_coding_transcript_exon_variant,,ENST00000569516,;LMF1,downstream_gene_variant,,ENST00000565198,;							MODERATE	1508/1704	F503S	LMF1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262301		CCDS45373.1			1	
LAPTM5	0	LGGM	GRCh37	1	31214549	31214549	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	1	2	.	.	ENST00000294507.3:c.196A>G	p.Ser66Gly	p.S66G	ENST00000294507	NM_006762.2	66	Agc/Ggc	0	1	1	UPI000012E20A	0	NA	ENST00000294507		ENSG00000162511	29612		3	2.24		HGNC	p.S66G		LAPTM5		SNV							ENST00000294507	protein_coding	getma.org/?cm=var&var=hg19,1,31214549,T,C&fts=all		Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00799,Pfam_domain:PF03821,hmmpanther:PTHR12479:SF2,hmmpanther:PTHR12479		S/G		C	medium	271/2223		getma.org/?cm=msa&ty=f&p=LAPM5_HUMAN&rb=28&re=261&var=S66G	tolerated(0.11)	Q5TBB8_HUMAN			YES	LAPTM5,missense_variant,p.Ser66Gly,ENST00000294507,NM_006762.2;MIR4420,upstream_gene_variant,,ENST00000583944,;LAPTM5,non_coding_transcript_exon_variant,,ENST00000476492,;LAPTM5,non_coding_transcript_exon_variant,,ENST00000464569,;							MODERATE	196/789	S66G	LAPM5_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000294507		CCDS337.1			1	
NME3	0	LGGM	GRCh37	16	1821088	1821088	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	4	2	.	.	ENST00000219302.3:c.262G>T	p.Gly88Trp	p.G88W	ENST00000219302	NM_002513.2	88	Ggg/Tgg	0	1	1	UPI000012FE88	0	getma.org/pdb.php?prot=NDK3_HUMAN&from=22&to=156&var=G88W	ENST00000219302		ENSG00000103024	7851		6	4.455		HGNC	p.G88W		NME3		SNV							ENST00000219302	protein_coding	getma.org/?cm=var&var=hg19,16,1821088,C,A&fts=all		Gene3D:3.30.70.141,HAMAP:MF_00451,Pfam_domain:PF00334,Prints_domain:PR01243,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF54,SMART_domains:SM00562,Superfamily_domains:SSF54919		G/W		A	high	458/1069		getma.org/?cm=msa&ty=f&p=NDK3_HUMAN&rb=22&re=156&var=G88W	deleterious(0)	Q9NUF9_HUMAN,H3BPR2_HUMAN			YES	NME3,missense_variant,p.Gly88Trp,ENST00000219302,NM_002513.2;NME3,missense_variant,p.Gly4Trp,ENST00000563498,;NME3,synonymous_variant,p.=,ENST00000564628,;MAPK8IP3,downstream_gene_variant,,ENST00000250894,NM_015133.3;MAPK8IP3,downstream_gene_variant,,ENST00000356010,NM_001040439.1;EME2,upstream_gene_variant,,ENST00000307394,;EME2,upstream_gene_variant,,ENST00000568449,NM_001257370.1;MRPS34,downstream_gene_variant,,ENST00000177742,;MRPS34,downstream_gene_variant,,ENST00000397375,NM_023936.1;NME3,3_prime_UTR_variant,,ENST00000568561,;NME3,3_prime_UTR_variant,,ENST00000563854,;NME3,non_coding_transcript_exon_variant,,ENST00000561637,;NME3,non_coding_transcript_exon_variant,,ENST00000566600,;NME3,non_coding_transcript_exon_variant,,ENST00000565379,;NME3,non_coding_transcript_exon_variant,,ENST00000563367,;NME3,non_coding_transcript_exon_variant,,ENST00000567271,;NME3,non_coding_transcript_exon_variant,,ENST00000564252,;EME2,upstream_gene_variant,,ENST00000570069,;EME2,upstream_gene_variant,,ENST00000561903,;MAPK8IP3,downstream_gene_variant,,ENST00000563868,;MAPK8IP3,downstream_gene_variant,,ENST00000564868,;MRPS34,downstream_gene_variant,,ENST00000569585,;EME2,upstream_gene_variant,,ENST00000564182,;MAPK8IP3,downstream_gene_variant,,ENST00000566064,;MAPK8IP3,downstream_gene_variant,,ENST00000567352,;EME2,upstream_gene_variant,,ENST00000561564,;EME2,upstream_gene_variant,,ENST00000565326,;MAPK8IP3,downstream_gene_variant,,ENST00000562042,;							MODERATE	262/510	G88W	NDK3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219302		CCDS10443.1			1	
SNRPA	0	LGGM	GRCh37	19	41265517	41265517	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	9	3	.	.	ENST00000243563.3:c.426+2T>C		p.X142_splice	ENST00000243563	NM_004596.4			0	1	1	UPI000002C8F2	0		ENST00000243563		ENSG00000077312	11151		12			HGNC	-		SNRPA		SNV							ENST00000601545	protein_coding							C		-/1621				M0R2B8_HUMAN,M0R221_HUMAN,M0QZG7_HUMAN			YES	SNRPA,splice_donor_variant,,ENST00000243563,NM_004596.4;SNRPA,splice_donor_variant,,ENST00000601393,;SNRPA,splice_donor_variant,,ENST00000601545,;SNRPA,splice_donor_variant,,ENST00000597353,;SNRPA,downstream_gene_variant,,ENST00000599362,;SNRPA,downstream_gene_variant,,ENST00000601253,;SNRPA,downstream_gene_variant,,ENST00000599570,;SNRPA,splice_donor_variant,,ENST00000598923,;SNRPA,non_coding_transcript_exon_variant,,ENST00000598452,;SNRPA,downstream_gene_variant,,ENST00000600456,;SNRPA,upstream_gene_variant,,ENST00000596860,;							HIGH	426/849		SNRPA_HUMAN			Transcript			.	ENSP00000243563		CCDS12565.1			1	
WDR90	0	LGGM	GRCh37	16	702481	702481	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	3	.	.	ENST00000293879.4:c.1068C>G	p.Asp356Glu	p.D356E	ENST00000293879		356	gaC/gaG	0	1	1	UPI0000D67C48	0	NA	ENST00000293879		ENSG00000161996	26960		17	2.485		HGNC	p.D356E		WDR90		SNV							ENST00000293879	protein_coding	getma.org/?cm=var&var=hg19,16,702481,C,G&fts=all				D/E		G	medium	1068/5488		getma.org/?cm=msa&ty=f&p=WDR90_HUMAN&rb=193&re=392&var=D356E	deleterious(0.02)				YES	WDR90,missense_variant,p.Asp356Glu,ENST00000549091,NM_145294.4;WDR90,missense_variant,p.Asp356Glu,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,;FAM195A,downstream_gene_variant,,ENST00000575894,;FAM195A,downstream_gene_variant,,ENST00000491999,;FAM195A,downstream_gene_variant,,ENST00000474840,;WDR90,upstream_gene_variant,,ENST00000548859,;							MODERATE	1068/5247	D356E	WDR90_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000293879		CCDS42092.1			1	
SCFD2	0	LGGM	GRCh37	4	54179830	54179830	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	13	3	.	.	ENST00000401642.3:c.1108G>T	p.Glu370Ter	p.E370*	ENST00000401642	NM_152540.3	370	Gaa/Taa	0	1	1	UPI000006FB05	0	NA	ENST00000401642		ENSG00000184178	30676		16	0		HGNC	p.E370X		SCFD2		SNV							ENST00000401642	protein_coding	getma.org/?cm=var&var=hg19,4,54179830,C,A&fts=all		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF29,Superfamily_domains:SSF56815		E/*		A	NA	1242/3176		NA		D6RCK6_HUMAN			YES	SCFD2,stop_gained,p.Glu370Ter,ENST00000401642,NM_152540.3;SCFD2,stop_gained,p.Glu370Ter,ENST00000388940,;							HIGH	1108/2055	E370*	SCFD2_HUMAN			Transcript			.	ENSP00000384182		CCDS33984.1			1	
CES3	0	LGGM	GRCh37	16	67000179	67000179	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	3	.	.	ENST00000303334.4:c.852C>A	p.Ser284Arg	p.S284R	ENST00000303334	NM_024922.5	284	agC/agA	0	1	1	UPI0000047824	0	getma.org/pdb.php?prot=EST3_HUMAN&from=9&to=547&var=S284R	ENST00000303334		ENSG00000172828	1865		17	1.26		HGNC	p.S284R		CES3		SNV							ENST00000570236	protein_coding	getma.org/?cm=var&var=hg19,16,67000179,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF163,Superfamily_domains:SSF53474		S/R		A	low	923/3834		getma.org/?cm=msa&ty=f&p=EST3_HUMAN&rb=9&re=547&var=S284R	tolerated(0.36)				YES	CES3,missense_variant,p.Ser284Arg,ENST00000303334,NM_024922.5;CES3,missense_variant,p.Ser284Arg,ENST00000394037,NM_001185177.1;CES3,upstream_gene_variant,,ENST00000543856,NM_001185176.1;RP11-361L15.4,downstream_gene_variant,,ENST00000566869,;CES3,missense_variant,p.Ser284Arg,ENST00000570236,;CES3,non_coding_transcript_exon_variant,,ENST00000564715,;CES3,downstream_gene_variant,,ENST00000566453,;CES3,downstream_gene_variant,,ENST00000566746,;CES3,downstream_gene_variant,,ENST00000568118,;							MODERATE	852/1716	S284R	EST3_HUMAN			Transcript		benign(0.387)	.	ENSP00000304782		CCDS10826.1			1	
ETF1	0	LGGM	GRCh37	5	137847239	137847239	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	26	3	.	.	ENST00000360541.5:c.787G>T	p.Gly263Ter	p.G263*	ENST00000360541	NM_004730.3	263	Gga/Tga	0	1	1	UPI00001110CB	0	NA	ENST00000360541		ENSG00000120705	3477		29	0		HGNC	p.G230X		ETF1		SNV							ENST00000499810	protein_coding	getma.org/?cm=var&var=hg19,5,137847239,C,A&fts=all		hmmpanther:PTHR10113,hmmpanther:PTHR10113:SF7,Gene3D:1dt9A02,TIGRFAM_domain:TIGR03676,Pfam_domain:PF03464,Superfamily_domains:SSF53137		G/*		A	NA	1009/3742		NA		Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN			YES	ETF1,stop_gained,p.Gly230Ter,ENST00000499810,NM_001282185.1,NM_001256302.1;ETF1,stop_gained,p.Gly263Ter,ENST00000360541,NM_004730.3;ETF1,stop_gained,p.Gly249Ter,ENST00000503014,;ETF1,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000507939,;ETF1,3_prime_UTR_variant,,ENST00000512198,;ETF1,non_coding_transcript_exon_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000503183,;							HIGH	787/1314	G263*	ERF1_HUMAN			Transcript			.	ENSP00000353741		CCDS4207.1			1	
SSH2	0	LGGM	GRCh37	17	27958647	27958647	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	38	3	.	.	ENST00000269033.3:c.3484G>T	p.Glu1162Ter	p.E1162*	ENST00000269033	NM_033389.2	1162	Gaa/Taa	0	1	1	UPI00001D6272	0	NA	ENST00000269033		ENSG00000141298	30580		41	0		HGNC	p.E1189X		SSH2		SNV							ENST00000540801	protein_coding	getma.org/?cm=var&var=hg19,17,27958647,C,A&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF106		E/*		A	NA	3636/9327		NA		J3KSQ9_HUMAN			YES	SSH2,stop_gained,p.Glu1162Ter,ENST00000269033,NM_033389.2,NM_001282129.1;SSH2,stop_gained,p.Glu1189Ter,ENST00000540801,;SSH2,upstream_gene_variant,,ENST00000577991,;RP11-68I3.2,intron_variant,,ENST00000581474,;							HIGH	3484/4272	E1162*	SSH2_HUMAN			Transcript			.	ENSP00000269033		CCDS11253.1			1	
A2M	0	LGGM	GRCh37	12	9232771	9232771	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	19	3	.	.	ENST00000318602.7:c.2773G>T	p.Gly925Cys	p.G925C	ENST00000318602	NM_000014.4	925	Ggt/Tgt	0	1	1	UPI000014038F	0	getma.org/pdb.php?prot=A2MG_HUMAN&from=829&to=960&var=G925C	ENST00000318602		ENSG00000175899	7		22	1.1		HGNC	p.G925C		A2M		SNV							ENST00000318602	protein_coding	getma.org/?cm=var&var=hg19,12,9232771,C,A&fts=all		hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412		G/C		A	low	3081/4844		getma.org/?cm=msa&ty=f&p=A2MG_HUMAN&rb=829&re=960&var=G925C	deleterious(0.02)	Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN			YES	A2M,missense_variant,p.Gly925Cys,ENST00000318602,NM_000014.4;A2M,intron_variant,,ENST00000543436,;A2M,splice_region_variant,,ENST00000542567,;A2M,intron_variant,,ENST00000545828,;A2M,splice_region_variant,,ENST00000462568,;							MODERATE	2773/4425	G925C	A2MG_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000323929		CCDS44827.1			1	
TMCC2	0	LGGM	GRCh37	1	205241193	205241193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	32	3	.	.	ENST00000358024.3:c.2071C>A	p.Leu691Ile	p.L691I	ENST00000358024	NM_014858.3	691	Ctc/Atc	0	1	1	UPI00002056FC	0	NA	ENST00000358024		ENSG00000133069	24239		35	1.66		HGNC	p.L613I		TMCC2		SNV							ENST00000545499	protein_coding	getma.org/?cm=var&var=hg19,1,205241193,C,A&fts=all		Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/I		A	low	2460/3738		getma.org/?cm=msa&ty=f&p=TMCC2_HUMAN&rb=284&re=698&var=L691I	tolerated(0.09)				YES	TMCC2,missense_variant,p.Leu691Ile,ENST00000358024,NM_014858.3;TMCC2,missense_variant,p.Leu451Ile,ENST00000329800,;TMCC2,missense_variant,p.Leu466Ile,ENST00000330675,;TMCC2,missense_variant,p.Leu613Ile,ENST00000545499,NM_001242925.1;TMCC2,downstream_gene_variant,,ENST00000367159,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,non_coding_transcript_exon_variant,,ENST00000468846,;							MODERATE	2071/2130	L691I	TMCC2_HUMAN			Transcript		possibly_damaging(0.673)	.	ENSP00000350718		CCDS30984.1			1	
KCNQ5	0	LGGM	GRCh37	6	73905007	73905007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	44	3	.	.	ENST00000342056.2:c.2726C>A	p.Pro909Gln	p.P909Q	ENST00000342056	NM_001160132.1	909	cCg/cAg	0	1		UPI0000167EE4	0	NA	ENST00000370398		ENSG00000185760	6299		47	0.55		HGNC	p.P900Q		KCNQ5		SNV							ENST00000402622	protein_coding	getma.org/?cm=var&var=hg19,6,73905007,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	neutral	2778/6345		getma.org/?cm=msa&ty=f&p=KCNQ5_HUMAN&rb=848&re=932&var=P890Q	tolerated_low_confidence(0.11)					KCNQ5,missense_variant,p.Pro909Gln,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,missense_variant,p.Pro890Gln,ENST00000355194,;KCNQ5,missense_variant,p.Pro890Gln,ENST00000370398,NM_019842.3;KCNQ5,missense_variant,p.Pro900Gln,ENST00000402622,;KCNQ5,missense_variant,p.Pro891Gln,ENST00000355635,;KCNQ5,missense_variant,p.Pro881Gln,ENST00000403813,NM_001160130.1;KCNQ5,missense_variant,p.Pro780Gln,ENST00000414165,NM_001160134.1;							MODERATE	2669/2799	P890Q	KCNQ5_HUMAN			Transcript		benign(0.162)	.	ENSP00000359425		CCDS4976.1			1	
NPSR1	0	LGGM	GRCh37	7	34698029	34698029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	29	3	.	.	ENST00000359791.1:c.5C>A	p.Pro2Gln	p.P2Q	ENST00000359791	NM_207173.1	2	cCa/cAa	0	1		UPI0000159341	0	NA	ENST00000360581		ENSG00000187258	23631		32	0.695		HGNC	p.P2Q		NPSR1		SNV			1				ENST00000381544	protein_coding	getma.org/?cm=var&var=hg19,7,34698029,C,A&fts=all				P/Q		A	neutral	133/1567		getma.org/?cm=msa&ty=f&p=NPSR1_HUMAN&rb=1&re=65&var=P2Q	tolerated_low_confidence(0.21)					NPSR1,missense_variant,p.Pro2Gln,ENST00000360581,NM_207172.1;NPSR1,missense_variant,p.Pro2Gln,ENST00000359791,NM_207173.1;NPSR1,missense_variant,p.Pro2Gln,ENST00000531252,;NPSR1,missense_variant,p.Pro2Gln,ENST00000381542,;NPSR1,missense_variant,p.Pro2Gln,ENST00000381539,;NPSR1,missense_variant,p.Pro2Gln,ENST00000381553,;NPSR1,missense_variant,p.Pro2Gln,ENST00000465305,;AC005493.1,intron_variant,,ENST00000399077,;NPSR1-AS1,intron_variant,,ENST00000419766,;NPSR1-AS1,intron_variant,,ENST00000537560,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1-AS1,intron_variant,,ENST00000439852,;NPSR1-AS1,intron_variant,,ENST00000358772,;NPSR1-AS1,intron_variant,,ENST00000544556,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1,missense_variant,p.Pro2Gln,ENST00000396095,;NPSR1,missense_variant,p.Pro2Gln,ENST00000381544,;							MODERATE	5/1116	P2Q	NPSR1_HUMAN			Transcript		benign(0.002)	.	ENSP00000353788		CCDS5444.1			1	
SLC2A14	0	LGGM	GRCh37	12	7972087	7972087	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	39	3	.	.	ENST00000543909.1:c.1131G>T	p.Leu377Phe	p.L377F	ENST00000543909	NM_001286233.1	377	ttG/ttT	0	1		UPI000006D325	0	NA	ENST00000396589		ENSG00000173262	18301		42	1.62		HGNC	p.L18F		SLC2A14		SNV							ENST00000542505	protein_coding	getma.org/?cm=var&var=hg19,12,7972087,C,A&fts=all		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		L/F		A	low	1388/2335		getma.org/?cm=msa&ty=f&p=GTR14_HUMAN&rb=37&re=489&var=L377F	tolerated(0.1)	F5H6F6_HUMAN,F5GXP7_HUMAN				SLC2A14,missense_variant,p.Leu377Phe,ENST00000543909,NM_001286233.1;SLC2A14,missense_variant,p.Leu354Phe,ENST00000340749,NM_001286235.1;SLC2A14,missense_variant,p.Leu354Phe,ENST00000431042,NM_001286234.1;SLC2A14,missense_variant,p.Leu377Phe,ENST00000396589,NM_153449.2;SLC2A14,missense_variant,p.Leu392Phe,ENST00000539924,NM_001286237.1;SLC2A14,missense_variant,p.Leu268Phe,ENST00000535295,;SLC2A14,missense_variant,p.Leu18Phe,ENST00000542505,;SLC2A14,missense_variant,p.Leu268Phe,ENST00000542546,;							MODERATE	1131/1563	L377F	GTR14_HUMAN			Transcript		possibly_damaging(0.492)	.	ENSP00000379834		CCDS8585.1			1	
HPSE2	0	LGGM	GRCh37	10	100249850	100249850	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	35	3	.	.	ENST00000370552.3:c.1424G>T	p.Arg475Leu	p.R475L	ENST00000370552	NM_021828.4	475	cGg/cTg	0	1	1	UPI00001AEEC0	0	NA	ENST00000370552		ENSG00000172987	18374		38	1.5		HGNC	p.R363L		HPSE2		SNV			1				ENST00000404542	protein_coding	getma.org/?cm=var&var=hg19,10,100249850,C,A&fts=all		hmmpanther:PTHR14363,hmmpanther:PTHR14363:SF2		R/L		A	low	1484/2295		getma.org/?cm=msa&ty=f&p=HPSE2_HUMAN&rb=409&re=592&var=R475L	deleterious(0)				YES	HPSE2,missense_variant,p.Arg475Leu,ENST00000370552,NM_021828.4;HPSE2,missense_variant,p.Arg417Leu,ENST00000370549,NM_001166244.1;HPSE2,missense_variant,p.Arg475Leu,ENST00000370546,NM_001166246.1;HPSE2,missense_variant,p.Arg363Leu,ENST00000404542,NM_001166245.1;							MODERATE	1424/1779	R475L	HPSE2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000359583		CCDS7477.1			1	
FLNB	0	LGGM	GRCh37	3	58110168	58110168	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	38	3	.	.	ENST00000490882.1:c.3834C>A	p.Thr1278=	p.T1278=	ENST00000490882	NM_001164317.1	1278	acC/acA	0	1		UPI00001AEC01	0		ENST00000295956		ENSG00000136068	3755		41			HGNC	p.T1278T		FLNB		SNV			1				ENST00000490882	protein_coding			PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Pfam_domain:PF00630,Gene3D:2.60.40.10,SMART_domains:SM00557,Superfamily_domains:SSF81296		T		A		3999/9463								FLNB,synonymous_variant,p.=,ENST00000357272,;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,;							LOW	3834/7809		FLNB_HUMAN			Transcript			.	ENSP00000295956		CCDS2885.1			1	
MOV10L1	0	LGGM	GRCh37	22	50537899	50537899	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	11	3	.	.	ENST00000262794.5:c.310G>A	p.Asp104Asn	p.D104N	ENST00000262794	NM_018995.2	104	Gac/Aac	0	1	1	UPI00000421FB	0	NA	ENST00000262794		ENSG00000073146	7201		14	2.015		HGNC	p.D104N		MOV10L1		SNV							ENST00000262794	protein_coding	getma.org/?cm=var&var=hg19,22,50537899,G,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF321		D/N		A	medium	393/3960		getma.org/?cm=msa&ty=f&p=M10L1_HUMAN&rb=1&re=687&var=D104N	tolerated(0.14)				YES	MOV10L1,missense_variant,p.Asp104Asn,ENST00000262794,NM_018995.2;MOV10L1,missense_variant,p.Asp84Asn,ENST00000540615,NM_001164105.1;MOV10L1,missense_variant,p.Asp104Asn,ENST00000545383,;MOV10L1,missense_variant,p.Asp104Asn,ENST00000395858,NM_001164104.1;MOV10L1,5_prime_UTR_variant,,ENST00000395843,;MOV10L1,non_coding_transcript_exon_variant,,ENST00000475190,;MOV10L1,3_prime_UTR_variant,,ENST00000419054,;MOV10L1,3_prime_UTR_variant,,ENST00000395854,;							MODERATE	310/3636	D104N	M10L1_HUMAN			Transcript		benign(0.048)	.	ENSP00000262794		CCDS14084.1			1	
ATAD3C	0	LGGM	GRCh37	1	1387814	1387814	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	30	3	.	.	ENST00000378785.2:c.222G>T	p.Thr74=	p.T74=	ENST00000378785	NM_001039211.2	74	acG/acT	0	1	1	UPI00001619C0	0		ENST00000378785		ENSG00000215915	32151		33			HGNC	p.T74T	COSM528042	ATAD3C		SNV						1	ENST00000475091	protein_coding			hmmpanther:PTHR23075,hmmpanther:PTHR23075:SF5,Pfam_domain:PF12037		T		T		1217/3859							YES	ATAD3C,splice_region_variant,p.=,ENST00000378785,NM_001039211.2;ATAD3C,splice_region_variant,p.=,ENST00000475091,;					1		LOW	222/1236		ATD3C_HUMAN			Transcript			.	ENSP00000368062		CCDS44039.1			1	
SIMC1	0	LGGM	GRCh37	5	175717824	175717824	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	43	3	.	.	ENST00000341199.6:c.130-4209G>T		*44*	ENST00000341199	NM_198567.4			0	1		UPI000013E866	0		ENST00000443967		ENSG00000170085	24779		46			HGNC	p.A433S		SIMC1		SNV							ENST00000429602	protein_coding			hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3		A/S		T		1647/3572			tolerated_low_confidence(0.16)					SIMC1,missense_variant,p.Ala414Ser,ENST00000443967,;SIMC1,missense_variant,p.Ala433Ser,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,;							MODERATE	1240/2619		SIMC1_HUMAN			Transcript		benign(0.004)	.	ENSP00000406571					1	
CTTNBP2	0	LGGM	GRCh37	7	117417594	117417594	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	34	3	.	.	ENST00000160373.3:c.2749G>T	p.Ala917Ser	p.A917S	ENST00000160373	NM_033427.2	917	Gcc/Tcc	0	1	1	UPI000006E94A	0	getma.org/pdb.php?prot=CTTB2_HUMAN&from=878&to=987&var=A917S	ENST00000160373		ENSG00000077063	15679		37	1.87		HGNC	p.A917S		CTTNBP2		SNV							ENST00000160373	protein_coding	getma.org/?cm=var&var=hg19,7,117417594,C,A&fts=all		hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		A/S		A	low	2841/5970		getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=878&re=987&var=A917S	tolerated(0.06)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,missense_variant,p.Ala917Ser,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.Ala405Ser,ENST00000446636,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;							MODERATE	2749/4992	A917S	CTTB2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000160373		CCDS5774.1			1	
HSF5	0	LGGM	GRCh37	17	56540352	56540352	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	38	3	.	.	ENST00000323777.3:c.1333G>T	p.Gly445Ter	p.G445*	ENST00000323777	NM_001080439.1	445	Gga/Tga	0	1	1	UPI0000161929	0	NA	ENST00000323777		ENSG00000176160	26862		41	0		HGNC	p.G445X		HSF5		SNV							ENST00000323777	protein_coding	getma.org/?cm=var&var=hg19,17,56540352,C,A&fts=all		hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF138		G/*		A	NA	1443/4094		NA					YES	HSF5,stop_gained,p.Gly445Ter,ENST00000323777,NM_001080439.1;							HIGH	1333/1791	G445*	HSF5_HUMAN			Transcript			.	ENSP00000313243		CCDS32690.1			1	
FAM154B	0	LGGM	GRCh37	15	82575396	82575396	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	26	3	.	.	ENST00000339465.5:c.1190C>T	p.Ala397Val	p.A397V	ENST00000339465	NM_001008226.1	397	gCc/gTc	0	1	1	UPI00001D779A	0	NA	ENST00000339465		ENSG00000188659	33727		29	1.845		HGNC	p.A397V		FAM154B		SNV							ENST00000339465	protein_coding	getma.org/?cm=var&var=hg19,15,82575396,C,T&fts=all		hmmpanther:PTHR31516:SF4,hmmpanther:PTHR31516		A/V		T	low	1259/3134		getma.org/?cm=msa&ty=f&p=F154B_HUMAN&rb=346&re=398&var=A397V	tolerated(0.09)				YES	FAM154B,missense_variant,p.Ala397Val,ENST00000339465,NM_001008226.1;FAM154B,missense_variant,p.Ala382Val,ENST00000427381,;FAM154B,non_coding_transcript_exon_variant,,ENST00000565501,;							MODERATE	1190/1197	A397V	F154B_HUMAN			Transcript		benign(0.023)	.	ENSP00000340445		CCDS32310.1			1	
POU2AF2	0	LGGM	GRCh37	11	111156604	111156604	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	36	3	.	.	ENST00000280325.4:c.536C>A	p.Pro179Gln	p.P179Q	ENST00000280325	NM_198498.1	179	cCg/cAg	0	1	1	UPI0000074367	0	NA	ENST00000280325		ENSG00000150750	30527		39	1.935		HGNC	p.P179Q		C11orf53		SNV							ENST00000280325	protein_coding	getma.org/?cm=var&var=hg19,11,111156604,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	medium	683/1205		getma.org/?cm=msa&ty=f&p=CK053_HUMAN&rb=1&re=234&var=P179Q	deleterious(0.01)				YES	C11orf53,missense_variant,p.Pro179Gln,ENST00000280325,NM_198498.1;							MODERATE	536/711	P179Q	CK053_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000280325		CCDS31674.1			1	
IGF2R	0	LGGM	GRCh37	6	160450597	160450597	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	5	4	.	.	ENST00000356956.1:c.792C>A	p.Tyr264Ter	p.Y264*	ENST00000356956	NM_000876.2	264	taC/taA	0	1	1	UPI0000072478	0	NA	ENST00000356956		ENSG00000197081	5467		9	0		HGNC	p.Y264X		IGF2R		SNV							ENST00000356956	protein_coding	getma.org/?cm=var&var=hg19,6,160450597,C,A&fts=all		hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Pfam_domain:PF00878,Gene3D:2.70.130.10,Superfamily_domains:SSF50911		Y/*		A	NA	940/9091		NA		A0N9R7_HUMAN,A0N9R6_HUMAN			YES	IGF2R,stop_gained,p.Tyr264Ter,ENST00000356956,NM_000876.2;IGF2R,downstream_gene_variant,,ENST00000464636,;							HIGH	792/7476	Y264*	MPRI_HUMAN			Transcript			.	ENSP00000349437		CCDS5273.1			1	
RORC	0	LGGM	GRCh37	1	151787138	151787138	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	10	4	.	.	ENST00000318247.6:c.845G>A	p.Arg282Lys	p.R282K	ENST00000318247	NM_005060.3	282	aGg/aAg	0	1	1	UPI000006FBD8	0	getma.org/pdb.php?prot=RORG_HUMAN&from=99&to=298&var=R282K	ENST00000318247	not_provided	ENSG00000143365	10260		14	1.67		HGNC	p.R336K	rs267598019	RORC		SNV						1	ENST00000392697	protein_coding	getma.org/?cm=var&var=hg19,1,151787138,C,T&fts=all		Prints_domain:PR01293,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF196,Superfamily_domains:SSF48508		R/K		T	low	953/2180		getma.org/?cm=msa&ty=f&p=RORG_HUMAN&rb=99&re=298&var=R282K	deleterious(0.03)	Q6I9R9_HUMAN,D3DV25_HUMAN,B6ZGS6_HUMAN			YES	RORC,missense_variant,p.Arg261Lys,ENST00000356728,NM_001001523.1;RORC,missense_variant,p.Arg336Lys,ENST00000392697,;RORC,missense_variant,p.Arg282Lys,ENST00000318247,NM_005060.3;RORC,non_coding_transcript_exon_variant,,ENST00000480719,;							MODERATE	845/1557	R282K	RORG_HUMAN			Transcript		benign(0.025)	.	ENSP00000327025		CCDS1004.1			1	
B3GNT3	0	LGGM	GRCh37	19	17918900	17918900	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	4	4	.	.	ENST00000318683.6:c.284T>A	p.Leu95Gln	p.L95Q	ENST00000318683	NM_014256.3	95	cTg/cAg	0	1	1	UPI000007021E	0	NA	ENST00000318683		ENSG00000179913	13528		8	3.08		HGNC	p.L95Q		B3GNT3		SNV							ENST00000595387	protein_coding	getma.org/?cm=var&var=hg19,19,17918900,T,A&fts=all		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF23		L/Q		A	medium	431/2226		getma.org/?cm=msa&ty=f&p=B3GN3_HUMAN&rb=39&re=120&var=L95Q	deleterious(0)	M0R199_HUMAN,M0QX58_HUMAN			YES	B3GNT3,missense_variant,p.Leu95Gln,ENST00000318683,NM_014256.3;B3GNT3,missense_variant,p.Leu95Gln,ENST00000595387,;B3GNT3,missense_variant,p.Leu95Gln,ENST00000599265,;B3GNT3,missense_variant,p.Leu95Gln,ENST00000600777,;							MODERATE	284/1119	L95Q	B3GN3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000321874		CCDS12364.1			1	
ALDH18A1	0	LGGM	GRCh37	10	97371110	97371110	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	94	4	.	.	ENST00000371224.2:c.2013G>T	p.Leu671=	p.L671=	ENST00000371224	NM_002860.3	671	ctG/ctT	0	1	1	UPI0000131056	0		ENST00000371224		ENSG00000059573	9722		98			HGNC	p.L671L		ALDH18A1		SNV			1				ENST00000371224	protein_coding			Gene3D:3.40.309.10,PIRSF_domain:PIRSF036429,hmmpanther:PTHR11063,hmmpanther:PTHR11063:SF8,Superfamily_domains:SSF53720,TIGRFAM_domain:TIGR00407,TIGRFAM_domain:TIGR01092		L		A		2151/3349							YES	ALDH18A1,synonymous_variant,p.=,ENST00000371224,NM_002860.3;ALDH18A1,synonymous_variant,p.=,ENST00000371221,NM_001017423.1;ALDH18A1,non_coding_transcript_exon_variant,,ENST00000485428,;							LOW	2013/2388		P5CS_HUMAN			Transcript			.	ENSP00000360268		CCDS7443.1			1	
PTPRT	0	LGGM	GRCh37	20	40790161	40790161	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	17	4	.	.	ENST00000373198.4:c.2570T>A	p.Leu857His	p.L857H	ENST00000373198	NM_133170.3	857	cTt/cAt	0	1	1	UPI0000246C03	0	NA	ENST00000373187		ENSG00000196090	9682		21	0.69		HGNC	p.L828H		PTPRT		SNV							ENST00000373184	protein_coding	getma.org/?cm=var&var=hg19,20,40790161,A,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF208		L/H		T	neutral	2513/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=779&re=911&var=L838H	tolerated(0.09)				YES	PTPRT,missense_variant,p.Leu857His,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Leu828His,ENST00000373201,;PTPRT,missense_variant,p.Leu841His,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Leu837His,ENST00000373190,;PTPRT,missense_variant,p.Leu828His,ENST00000373184,;PTPRT,missense_variant,p.Leu847His,ENST00000356100,;PTPRT,missense_variant,p.Leu838His,ENST00000373187,;							MODERATE	2513/4326	L838H	PTPRT_HUMAN			Transcript		benign(0.41)	.	ENSP00000362283		CCDS42874.1			1	
INPP5D	0	LGGM	GRCh37	2	234073010	234073010	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	16	4	.	.	ENST00000359570.5:c.1459G>A	p.Glu487Lys	p.E487K	ENST00000359570		487	Gag/Aag	0	1		UPI000013E977	0		ENST00000445964		ENSG00000168918	6079		20			HGNC	p.E251K		INPP5D		SNV							ENST00000450745	protein_coding			hmmpanther:PTHR11200:SF69,hmmpanther:PTHR11200,Gene3D:3.60.10.10,Pfam_domain:PF03372,SMART_domains:SM00128,Superfamily_domains:SSF56219		E/K		A		358/3628			deleterious(0.01)	H0Y5Q9_HUMAN				INPP5D,missense_variant,p.Glu487Lys,ENST00000359570,;INPP5D,missense_variant,p.Glu251Lys,ENST00000455936,NM_005541.3_dupl7,NM_001017915.1_dupl7;INPP5D,missense_variant,p.Glu251Lys,ENST00000450745,;INPP5D,missense_variant,p.Glu120Lys,ENST00000415617,;INPP5D,missense_variant,p.Glu120Lys,ENST00000445964,;INPP5D,missense_variant,p.Glu120Lys,ENST00000435188,;INPP5D,missense_variant,p.Glu486Lys,ENST00000538935,;INPP5D,non_coding_transcript_exon_variant,,ENST00000472517,;INPP5D,non_coding_transcript_exon_variant,,ENST00000493078,;							MODERATE	358/2433					Transcript		benign(0.214)	.	ENSP00000405338					1	
KIRREL3	0	LGGM	GRCh37	11	126319041	126319041	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	44	4	.	.	ENST00000525144.2:c.860G>T	p.Arg287Leu	p.R287L	ENST00000525144	NM_032531.3	287	cGg/cTg	0	1	1	UPI00000740A0	0	NA	ENST00000525144		ENSG00000149571	23204		48	0.69		HGNC	p.R287L		KIRREL3		SNV			1				ENST00000529097	protein_coding	getma.org/?cm=var&var=hg19,11,126319041,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,Superfamily_domains:SSF48726		R/L		A	neutral	1110/3808		getma.org/?cm=msa&ty=f&p=KIRR3_HUMAN&rb=249&re=331&var=R287L	deleterious(0.01)	B4DT91_HUMAN			YES	KIRREL3,missense_variant,p.Arg287Leu,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Arg287Leu,ENST00000529097,;KIRREL3,missense_variant,p.Arg287Leu,ENST00000525704,NM_001161707.1;							MODERATE	860/2337	R287L	KIRR3_HUMAN			Transcript		benign(0.134)	.	ENSP00000435466		CCDS53723.1			1	
KRTAP13-3	0	LGGM	GRCh37	21	31797958	31797958	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	11	4	.	.	ENST00000390690.2:c.273T>C	p.Ser91=	p.S91=	ENST00000390690	NM_181622.1	91	tcT/tcC	0	1	1	UPI000003B46C	0		ENST00000390690		ENSG00000240432	18925		15			HGNC	p.S91S	COSM4101111	KRTAP13-3		SNV						1	ENST00000390690	protein_coding			Pfam_domain:PF05287,hmmpanther:PTHR19051,hmmpanther:PTHR19051:SF12		S		G		329/704							YES	KRTAP13-3,synonymous_variant,p.=,ENST00000390690,NM_181622.1;KRTAP13-4,upstream_gene_variant,,ENST00000334068,NM_181600.1;					1		LOW	273/519		KR133_HUMAN			Transcript			.	ENSP00000375109		CCDS13591.1			1	
WNK4	0	LGGM	GRCh37	17	40932795	40932795	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	6	4	.	.	ENST00000246914.5:c.79C>T	p.Pro27Ser	p.P27S	ENST00000246914	NM_032387.4	27	Cct/Tct	0	1	1	UPI000006FC0F	0	NA	ENST00000246914		ENSG00000126562	14544		10	0.805		HGNC	p.P27S		WNK4		SNV			1				ENST00000591448	protein_coding	getma.org/?cm=var&var=hg19,17,40932795,C,T&fts=all		hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902		P/S		T	low	100/4001		getma.org/?cm=msa&ty=f&p=WNK4_HUMAN&rb=1&re=99&var=P27S	tolerated_low_confidence(0.14)	B0LPI0_HUMAN			YES	WNK4,missense_variant,p.Pro27Ser,ENST00000246914,NM_032387.4;VPS25,downstream_gene_variant,,ENST00000253794,NM_032353.3;VPS25,downstream_gene_variant,,ENST00000590339,;VPS25,downstream_gene_variant,,ENST00000589520,;WNK4,upstream_gene_variant,,ENST00000587705,;WNK4,missense_variant,p.Pro27Ser,ENST00000591448,;WNK4,upstream_gene_variant,,ENST00000592072,;VPS25,downstream_gene_variant,,ENST00000589577,;WNK4,upstream_gene_variant,,ENST00000592669,;							MODERATE	79/3732	P27S	WNK4_HUMAN			Transcript		unknown(0)	.	ENSP00000246914		CCDS11439.1			1	
LAMA1	0	LGGM	GRCh37	18	7032114	7032114	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	8	4	.	.	ENST00000389658.3:c.2225G>A	p.Cys742Tyr	p.C742Y	ENST00000389658	NM_005559.3	742	tGt/tAt	0	1	1	UPI00001C1FF9	0	getma.org/pdb.php?prot=LAMA1_HUMAN&from=742&to=788&var=C742Y	ENST00000389658		ENSG00000101680	6481		12	4.265		HGNC	p.C742Y		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,7032114,C,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00180,Superfamily_domains:SSF57196,Superfamily_domains:SSF57196		C/Y		T	high	2319/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=742&re=788&var=C742Y	deleterious(0)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Cys742Tyr,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;							MODERATE	2225/9228	C742Y	LAMA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374309		CCDS32787.1			1	
PTPN3	0	LGGM	GRCh37	9	112172304	112172304	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	7	5	.	.	ENST00000374541.2:c.1553A>T	p.Asp518Val	p.D518V	ENST00000374541	NM_001145368.1	518	gAt/gTt	0	1	1	UPI000013D2D2	0	getma.org/pdb.php?prot=PTN3_HUMAN&from=510&to=595&var=D518V	ENST00000374541		ENSG00000070159	9655		12	1.12		HGNC	p.D387V		PTPN3		SNV			1				ENST00000412145	protein_coding	getma.org/?cm=var&var=hg19,9,112172304,T,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF50156		D/V		A	low	1658/6703		getma.org/?cm=msa&ty=f&p=PTN3_HUMAN&rb=510&re=595&var=D518V	deleterious(0.01)	B7Z8K9_HUMAN			YES	PTPN3,missense_variant,p.Asp387Val,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,missense_variant,p.Asp342Val,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,missense_variant,p.Asp518Val,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,missense_variant,p.Asp364Val,ENST00000262539,;PTPN3,5_prime_UTR_variant,,ENST00000394827,;							MODERATE	1553/2742	D518V	PTN3_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000363667		CCDS6776.1			1	
KIF3C	0	LGGM	GRCh37	2	26174666	26174666	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	7	5	.	.	ENST00000264712.3:c.1998A>T	p.Pro666=	p.P666=	ENST00000264712	NM_002254.6	666	ccA/ccT	0	1	1	UPI000013D55A	0		ENST00000264712		ENSG00000084731	6321		12			HGNC	p.P666P		KIF3C		SNV							ENST00000417737	protein_coding			hmmpanther:PTHR24115:SF349,hmmpanther:PTHR24115		P		A		2578/5338							YES	KIF3C,synonymous_variant,p.=,ENST00000264712,NM_002254.6;KIF3C,synonymous_variant,p.=,ENST00000405914,;KIF3C,non_coding_transcript_exon_variant,,ENST00000496378,;KIF3C,synonymous_variant,p.=,ENST00000455394,;KIF3C,synonymous_variant,p.=,ENST00000417737,;KIF3C,non_coding_transcript_exon_variant,,ENST00000488341,;KIF3C,downstream_gene_variant,,ENST00000475453,;							LOW	1998/2382		KIF3C_HUMAN			Transcript			.	ENSP00000264712		CCDS1719.1			1	
FMN1	0	LGGM	GRCh37	15	33446726	33446726	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	11	5	.	.	ENST00000320930.7:c.390T>A	p.Asp130Glu	p.D130E	ENST00000320930	NM_001277314.1	130	gaT/gaA	0	1	1	UPI0001AE68B4	0	NA	ENST00000559047		ENSG00000248905	3768		16	0.55		HGNC	p.D130E		FMN1		SNV							ENST00000561249	protein_coding	getma.org/?cm=var&var=hg19,15,33446726,A,T&fts=all		hmmpanther:PTHR13037:SF9,hmmpanther:PTHR13037		D/E		T	neutral	390/4260		getma.org/?cm=msa&ty=f&p=H0YM30_HUMAN&rb=1&re=200&var=D130E						FMN1,missense_variant,p.Asp130Glu,ENST00000559047,NM_001277313.1;FMN1,missense_variant,p.Asp130Glu,ENST00000561249,;FMN1,missense_variant,p.Asp130Glu,ENST00000320930,NM_001277314.1;							MODERATE	390/4260	D130E	FMN1_HUMAN			Transcript		unknown(0)	.	ENSP00000454047		CCDS61581.1			1	
CCDC74B	0	LGGM	GRCh37	2	130900463	130900463	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	13	5	.	.	ENST00000310463.6:c.295+379T>G		*99*	ENST00000310463	NM_207310.2			0	1	1	UPI000006D822	0		ENST00000310463		ENSG00000152076	25267		18			HGNC	p.L225R		CCDC74B		SNV							ENST00000409234	protein_coding							C		-/1549							YES	CCDC74B,missense_variant,p.Leu225Arg,ENST00000409234,;CCDC74B,synonymous_variant,p.=,ENST00000392984,;CCDC74B,intron_variant,,ENST00000310463,NM_207310.2;CCDC74B,intron_variant,,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,intron_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,intron_variant,,ENST00000423263,;CCDC74B,intron_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;							MODIFIER	-/1143		CC74B_HUMAN			Transcript			.	ENSP00000308873		CCDS2155.1			1	
TP53	0	LGGM	GRCh37	17	7577539	7577539	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	1	5	.	.	ENST00000269305.4:c.742C>T	p.Arg248Trp	p.R248W	ENST00000269305	NM_001126112.2	248	Cgg/Tgg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R248W	ENST00000269305	pathogenic	ENSG00000141510	11998		6	3.315		HGNC	p.R248W	rs121912651,TP53_g.13379C>T,COSM10656,COSM120007,COSM120005,COSM3388183,COSM1640831,COSM120006	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577539,G,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/W		A	medium	932/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R248W	deleterious(0)	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			YES	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,;					0,0,1,1,1,1,1,1		MODERATE	742/1182	R248W	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
LEPRE1	0	LGGM	GRCh37	1	43213926	43213926	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	15	6	.	.	ENST00000236040.4:c.1783G>A	p.Ala595Thr	p.A595T	ENST00000236040	NM_001243246.1	595	Gcc/Acc	0	1		UPI000003B0B3	0	NA	ENST00000296388		ENSG00000117385	19316		21	1.1		HGNC	p.A595T		LEPRE1		SNV			1				ENST00000236040	protein_coding	getma.org/?cm=var&var=hg19,1,43213926,C,T&fts=all		PROSITE_profiles:PS51471,hmmpanther:PTHR14049:SF5,hmmpanther:PTHR14049,Pfam_domain:PF13640,SMART_domains:SM00702		A/T		T	low	1835/2585		getma.org/?cm=msa&ty=f&p=P3H1_HUMAN&rb=574&re=677&var=A595T	deleterious(0)	B4DTG8_HUMAN,B4DNM8_HUMAN				LEPRE1,missense_variant,p.Ala595Thr,ENST00000236040,NM_001243246.1;LEPRE1,missense_variant,p.Ala595Thr,ENST00000397054,NM_022356.3,NM_001146289.1;LEPRE1,missense_variant,p.Ala595Thr,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,;							MODERATE	1783/2211	A595T	P3H1_HUMAN			Transcript		benign(0.215)	.	ENSP00000296388		CCDS472.2			1	
OR11H12	0	LGGM	GRCh37	14	19378063	19378063	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	80	6	.	.	ENST00000550708.1:c.470C>A	p.Ala157Asp	p.A157D	ENST00000550708	NM_001013354.1	157	gCc/gAc	0	1	1	UPI00004EAFF2	0	NA	ENST00000550708		ENSG00000257115	30738		86	1.895		HGNC	p.A157D	COSM552238	OR11H12		SNV						1	ENST00000550708	protein_coding	getma.org/?cm=var&var=hg19,14,19378063,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF201,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		A/D		A	low	542/1085		getma.org/?cm=msa&ty=f&p=O11HC_HUMAN&rb=154&re=298&var=A157D	tolerated(0.18)				YES	OR11H12,missense_variant,p.Ala157Asp,ENST00000550708,NM_001013354.1,NM_001197287.1;					1		MODERATE	470/981	A157D	O11HC_HUMAN			Transcript		benign(0.158)	.	ENSP00000449002		CCDS32017.1			1	
GREB1	0	LGGM	GRCh37	2	11725308	11725308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	5	6	.	.	ENST00000381486.2:c.923C>A	p.Pro308His	p.P308H	ENST00000381486	NM_014668.3	308	cCc/cAc	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		11	2.25		HGNC	p.P308H		GREB1		SNV							ENST00000234142	protein_coding	getma.org/?cm=var&var=hg19,2,11725308,C,A&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		P/H		A	medium	1185/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=P308H	deleterious(0)					GREB1,missense_variant,p.Pro308His,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Pro308His,ENST00000234142,;GREB1,missense_variant,p.Pro308His,ENST00000263834,NM_148903.2;GREB1,missense_variant,p.Pro308His,ENST00000381483,NM_033090.2;GREB1,upstream_gene_variant,,ENST00000432985,;GREB1,downstream_gene_variant,,ENST00000389825,;RN7SL674P,downstream_gene_variant,,ENST00000463397,;							MODERATE	923/5850	P308H	GREB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000234142		CCDS42655.1			1	
SBK2	0	LGGM	GRCh37	19	56047630	56047630	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	12	6	.	.	ENST00000413299.1:c.32C>T	p.Ala11Val	p.A11V	ENST00000413299	NM_001101401.2	11	gCg/gTg	0	1		UPI00015DFA43	0	NA	ENST00000344158		ENSG00000187550	34416		18	0		HGNC	p.A11V	rs757259487	SBK2	6.89E-05	SNV							ENST00000413299	protein_coding	getma.org/?cm=var&var=hg19,19,56047630,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF293		A/V		A	neutral	32/1047		getma.org/?cm=msa&ty=f&p=SBK2_HUMAN&rb=1&re=61&var=A11V	tolerated_low_confidence(1)					SBK2,missense_variant,p.Ala11Val,ENST00000413299,NM_001101401.2;SBK2,missense_variant,p.Ala11Val,ENST00000344158,;SBK3,downstream_gene_variant,,ENST00000420723,NM_001199824.2;							MODERATE	32/1047	A11V	SBK2_HUMAN			Transcript		unknown(0)	.	ENSP00000345044	8.27E-06	CCDS42631.1			1	
SEMA3A	0	LGGM	GRCh37	7	83636781	83636781	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	16	6	.	.	ENST00000265362.4:c.1028A>G	p.Tyr343Cys	p.Y343C	ENST00000265362	NM_006080.2	343	tAt/tGt	0	1	1	UPI0000135A60	0	getma.org/pdb.php?prot=SEM3A_HUMAN&from=57&to=498&var=Y343C	ENST00000265362		ENSG00000075213	10723		22	3.29		HGNC	p.Y343C		SEMA3A		SNV			1				ENST00000265362	protein_coding	getma.org/?cm=var&var=hg19,7,83636781,T,C&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		Y/C		C	medium	1343/8225		getma.org/?cm=msa&ty=f&p=SEM3A_HUMAN&rb=57&re=498&var=Y343C	deleterious(0)	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN			YES	SEMA3A,missense_variant,p.Tyr343Cys,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Tyr343Cys,ENST00000436949,;							MODERATE	1028/2316	Y343C	SEM3A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265362		CCDS5599.1			1	
MYO3A	0	LGGM	GRCh37	10	26305785	26305785	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	39	6	.	.	ENST00000265944.5:c.545G>A	p.Arg182Gln	p.R182Q	ENST00000265944	NM_017433.4	182	cGg/cAg	0	1	1	UPI000014140A	0	getma.org/pdb.php?prot=MYO3A_HUMAN&from=21&to=287&var=R182Q	ENST00000265944		ENSG00000095777	7601		45	0.975		HGNC	p.R182Q	COSM1317470	MYO3A		SNV			1			1	ENST00000376302	protein_coding	getma.org/?cm=var&var=hg19,10,26305785,G,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011		R/Q		A	low	711/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=21&re=287&var=R182Q	deleterious(0)				YES	MYO3A,missense_variant,p.Arg182Gln,ENST00000265944,NM_017433.4;MYO3A,missense_variant,p.Arg182Gln,ENST00000376302,;MYO3A,missense_variant,p.Arg182Gln,ENST00000543632,;MYO3A,missense_variant,p.Arg182Gln,ENST00000376301,;					1		MODERATE	545/4851	R182Q	MYO3A_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000265944		CCDS7148.1			1	
THBS2	0	LGGM	GRCh37	6	169632897	169632897	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	20	6	.	.	ENST00000366787.3:c.1794C>T	p.Pro598=	p.P598=	ENST00000366787	NM_003247.2	598	ccC/ccT	0	1	1	UPI0000231C7F	0		ENST00000366787		ENSG00000186340	11786		26			HGNC	p.P598P		THBS2		SNV			1				ENST00000366787	protein_coding			hmmpanther:PTHR10199:SF10,hmmpanther:PTHR10199,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196		P		A		2044/5811				Q6MZL6_HUMAN,Q5RI53_HUMAN			YES	THBS2,synonymous_variant,p.=,ENST00000366787,NM_003247.2;XXyac-YX65C7_A.2,intron_variant,,ENST00000444188,;THBS2,downstream_gene_variant,,ENST00000461848,;							LOW	1794/3519		TSP2_HUMAN			Transcript			.	ENSP00000355751		CCDS34574.1			1	
OMA1	0	LGGM	GRCh37	1	58971746	58971746	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	26	6	.	.	ENST00000371226.3:c.1351A>T	p.Arg451Ter	p.R451*	ENST00000371226	NM_145243.3	451	Aga/Tga	0	1	1	UPI000006D0C6	0	NA	ENST00000371226		ENSG00000162600	29661		32	0		HGNC	p.R451X		OMA1		SNV							ENST00000371226	protein_coding	getma.org/?cm=var&var=hg19,1,58971746,T,A&fts=all		hmmpanther:PTHR22726,hmmpanther:PTHR22726:SF1		R/*		A	NA	1465/1935		NA		S4R3A3_HUMAN			YES	OMA1,stop_gained,p.Arg293Ter,ENST00000421528,;OMA1,stop_gained,p.Arg451Ter,ENST00000371226,NM_145243.3;OMA1,stop_gained,p.Arg451Ter,ENST00000358603,;DAB1,non_coding_transcript_exon_variant,,ENST00000485760,;OMA1,non_coding_transcript_exon_variant,,ENST00000467509,;OMA1,non_coding_transcript_exon_variant,,ENST00000460671,;OMA1,intron_variant,,ENST00000476933,;							HIGH	1351/1575	R451*	OMA1_HUMAN			Transcript			.	ENSP00000360270		CCDS608.1			1	
AKAP6	0	LGGM	GRCh37	14	33292708	33292708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	23	6	.	.	ENST00000280979.4:c.5689G>A	p.Gly1897Ser	p.G1897S	ENST00000280979	NM_004274.4	1897	Ggc/Agc	0	1	1	UPI000013DC48	0	NA	ENST00000280979		ENSG00000151320	376		29	2.215		HGNC	p.G1897S		AKAP6		SNV							ENST00000280979	protein_coding	getma.org/?cm=var&var=hg19,14,33292708,G,A&fts=all		hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		G/S		A	medium	5859/8686		getma.org/?cm=msa&ty=f&p=AKAP6_HUMAN&rb=1200&re=2317&var=G1897S	deleterious(0)	G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,missense_variant,p.Gly1897Ser,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							MODERATE	5689/6960	G1897S	AKAP6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000280979		CCDS9644.1			1	
PAPPA	0	LGGM	GRCh37	9	119144677	119144677	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	26	6	.	.	ENST00000328252.3:c.4681T>A	p.Phe1561Ile	p.F1561I	ENST00000328252	NM_002581.3	1561	Ttc/Atc	0	1	1	UPI00001E0589	0	NA	ENST00000328252		ENSG00000182752	8602		32	2.175		HGNC	p.F1561I		PAPPA		SNV							ENST00000328252	protein_coding	getma.org/?cm=var&var=hg19,9,119144677,T,A&fts=all		hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF347,Pfam_domain:PF00066,SMART_domains:SM00004		F/I		A	medium	5050/10959		getma.org/?cm=msa&ty=f&p=PAPP1_HUMAN&rb=1549&re=1584&var=F1561I	deleterious(0)	Q5QFB7_HUMAN,F5GZ19_HUMAN			YES	PAPPA,missense_variant,p.Phe1561Ile,ENST00000328252,NM_002581.3;PAPPA,missense_variant,p.Phe599Ile,ENST00000534838,;PAPPA,non_coding_transcript_exon_variant,,ENST00000483254,;							MODERATE	4681/4884	F1561I	PAPP1_HUMAN			Transcript		possibly_damaging(0.637)	.	ENSP00000330658		CCDS6813.1			1	
SLC22A25	0	LGGM	GRCh37	11	62932098	62932098	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	6	.	.	ENST00000306494.6:c.1294A>C	p.Thr432Pro	p.T432P	ENST00000306494	NM_199352.3	432	Acc/Ccc	0	1	1	UPI00001A72A5	0	NA	ENST00000306494		ENSG00000196600	32935		27	2.6		HGNC	p.T432P		SLC22A25		SNV							ENST00000306494	protein_coding	getma.org/?cm=var&var=hg19,11,62932098,T,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF185,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		T/P		G	medium	1294/1692		getma.org/?cm=msa&ty=f&p=S22AP_HUMAN&rb=141&re=484&var=T432P	deleterious(0.03)				YES	SLC22A25,missense_variant,p.Thr432Pro,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,;							MODERATE	1294/1644	T432P	S22AP_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000307443		CCDS31592.1			1	
PCDHA13	0	LGGM	GRCh37	5	140263894	140263894	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	34	6	.	.	ENST00000289272.2:c.2041A>T	p.Arg681Trp	p.R681W	ENST00000289272	NM_018904.2	681	Agg/Tgg	0	1	1	UPI00001273D6	0	NA	ENST00000289272		ENSG00000239389	8667		40	3.04		HGNC	p.R681W		PCDHA13		SNV							ENST00000409494	protein_coding	getma.org/?cm=var&var=hg19,5,140263894,A,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF101		R/W		T	medium	2041/5260		getma.org/?cm=msa&ty=f&p=PCDAD_HUMAN&rb=671&re=798&var=R681W	deleterious_low_confidence(0.04)				YES	PCDHA13,missense_variant,p.Arg681Trp,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA13,missense_variant,p.Arg681Trp,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,;							MODERATE	2041/2853	R681W	PCDAD_HUMAN			Transcript		benign(0.013)	.	ENSP00000289272		CCDS4240.1			1	
GLI3	0	LGGM	GRCh37	7	42006135	42006135	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	7	.	.	ENST00000395925.3:c.2536A>G	p.Arg846Gly	p.R846G	ENST00000395925	NM_000168.5	846	Aga/Gga	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		21	2.85		HGNC	p.R846G		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42006135,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		R/G		C	medium	2621/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=681&re=1089&var=R846G	deleterious(0)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Arg846Gly,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							MODERATE	2536/4743	R846G	GLI3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000379258		CCDS5465.1			1	
ENPEP	0	LGGM	GRCh37	4	111470968	111470968	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	9	7	.	.	ENST00000265162.5:c.2427A>T	p.Lys809Asn	p.K809N	ENST00000265162	NM_001977.3	809	aaA/aaT	0	1	1	UPI000013D5C6	0	getma.org/pdb.php?prot=AMPE_HUMAN&from=616&to=933&var=K809N	ENST00000265162		ENSG00000138792	3355		16	0.115		HGNC	p.K809N		ENPEP		SNV							ENST00000265162	protein_coding	getma.org/?cm=var&var=hg19,4,111470968,A,T&fts=all		Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF165		K/N		T	neutral	2769/6943		getma.org/?cm=msa&ty=f&p=AMPE_HUMAN&rb=616&re=933&var=K809N	tolerated(0.7)				YES	ENPEP,missense_variant,p.Lys809Asn,ENST00000265162,NM_001977.3;ENPEP,non_coding_transcript_exon_variant,,ENST00000502711,;							MODERATE	2427/2874	K809N	AMPE_HUMAN			Transcript		benign(0.008)	.	ENSP00000265162		CCDS3691.1			1	
SLC36A2	0	LGGM	GRCh37	5	150704966	150704966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	9	7	.	.	ENST00000335244.4:c.891C>T	p.Ala297=	p.A297=	ENST00000335244	NM_181776.2	297	gcC/gcT	0	1	1	UPI000020D008	0		ENST00000335244		ENSG00000186335	18762		16			HGNC	p.A21A		SLC36A2		SNV			1				ENST00000450886	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF185,hmmpanther:PTHR22950,Pfam_domain:PF01490		A		A		1021/3421				E5RGH8_HUMAN			YES	SLC36A2,synonymous_variant,p.=,ENST00000335244,NM_181776.2;SLC36A2,synonymous_variant,p.=,ENST00000450886,;SLC36A2,synonymous_variant,p.=,ENST00000521967,;SLC36A2,synonymous_variant,p.=,ENST00000523044,;SLC36A2,3_prime_UTR_variant,,ENST00000518617,;SLC36A2,3_prime_UTR_variant,,ENST00000518280,;							LOW	891/1452		S36A2_HUMAN			Transcript			.	ENSP00000334223		CCDS4315.1			1	
ISLR	0	LGGM	GRCh37	15	74468396	74468396	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	13	7	.	.	ENST00000249842.3:c.1197A>T	p.Ala399=	p.A399=	ENST00000249842	NM_005545.3	399	gcA/gcT	0	1	1	UPI0000049E09	0		ENST00000249842		ENSG00000129009	6133		20			HGNC	p.A399A		ISLR		SNV							ENST00000249842	protein_coding			hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF10		A		T		1554/2371				H0YN67_HUMAN,H0YL90_HUMAN			YES	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,;							LOW	1197/1287		ISLR_HUMAN			Transcript			.	ENSP00000249842		CCDS10260.1			1	
PLEC	0	LGGM	GRCh37	8	145008978	145008978	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	8	.	.	ENST00000322810.4:c.1356G>A	p.Glu452=	p.E452=	ENST00000322810	NM_201380.2	452	gaG/gaA	0	1	1	UPI0000233FCD	0		ENST00000322810		ENSG00000178209	9069		29			HGNC	p.E338E		PLEC		SNV			1				ENST00000527096	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966		E		T		1526/15249				Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,splice_region_variant,p.=,ENST00000322810,NM_201380.2;PLEC,splice_region_variant,p.=,ENST00000345136,NM_201384.1;PLEC,splice_region_variant,p.=,ENST00000436759,NM_000445.3;PLEC,splice_region_variant,p.=,ENST00000354958,NM_201379.1;PLEC,splice_region_variant,p.=,ENST00000354589,NM_201382.2;PLEC,splice_region_variant,p.=,ENST00000357649,NM_201383.1;PLEC,splice_region_variant,p.=,ENST00000356346,NM_201378.2;PLEC,splice_region_variant,p.=,ENST00000398774,NM_201381.1;PLEC,splice_region_variant,p.=,ENST00000527096,;PLEC,splice_region_variant,p.=,ENST00000528025,;PLEC,downstream_gene_variant,,ENST00000526416,;PLEC,downstream_gene_variant,,ENST00000527816,;PLEC,downstream_gene_variant,,ENST00000528131,;PLEC,downstream_gene_variant,,ENST00000532346,;							LOW	1356/14055		PLEC_HUMAN			Transcript			.	ENSP00000323856		CCDS43772.1			1	
NELL1	0	LGGM	GRCh37	11	20948871	20948871	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	28	8	.	.	ENST00000357134.5:c.777A>T	p.Thr259=	p.T259=	ENST00000357134	NM_201551.1	259	acA/acT	0	1	1	UPI000013E53D	0		ENST00000357134		ENSG00000165973	7750		36			HGNC	p.T287T		NELL1		SNV							ENST00000298925	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF2		T		T		929/3022				K9UUD5_HUMAN			YES	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,,ENST00000528495,;							LOW	777/2433		NELL1_HUMAN			Transcript			.	ENSP00000349654		CCDS7855.1			1	
LAMB3	0	LGGM	GRCh37	1	209823334	209823334	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	16	8	.	.	ENST00000391911.1:c.158A>T	p.Glu53Val	p.E53V	ENST00000391911	NM_001017402.1	53	gAg/gTg	0	1		UPI000012E76F	0	getma.org/pdb.php?prot=LAMB3_HUMAN&from=26&to=248&var=E53V	ENST00000356082		ENSG00000196878	6490		24	3.08		HGNC	p.E53V	COSM1636865	LAMB3		SNV			1			1	ENST00000415782	protein_coding	getma.org/?cm=var&var=hg19,1,209823334,T,A&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245,SMART_domains:SM00136		E/V		A	medium	293/4055		getma.org/?cm=msa&ty=f&p=LAMB3_HUMAN&rb=26&re=248&var=E53V	deleterious(0)	Q5THA1_HUMAN				LAMB3,missense_variant,p.Glu53Val,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.Glu53Val,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.Glu53Val,ENST00000367030,NM_001127641.1;LAMB3,missense_variant,p.Glu53Val,ENST00000415782,;					1		MODERATE	158/3519	E53V	LAMB3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000348384		CCDS1487.1			1	
BZRAP1	0	LGGM	GRCh37	17	56395672	56395672	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	11	8	.	.	ENST00000343736.4:c.1841A>T	p.His614Leu	p.H614L	ENST00000343736		614	cAc/cTc	0	1	1	UPI000013D7E3	0	NA	ENST00000343736		ENSG00000005379	16831		19	0		HGNC	p.H554L		BZRAP1		SNV							ENST00000268893	protein_coding	getma.org/?cm=var&var=hg19,17,56395672,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14234:SF20,hmmpanther:PTHR14234		H/L		A	neutral	2005/5947		getma.org/?cm=msa&ty=f&p=RIMB1_HUMAN&rb=601&re=662&var=H614L	deleterious(0.03)				YES	BZRAP1,missense_variant,p.His614Leu,ENST00000355701,NM_004758.3,NM_001261835.1;BZRAP1,missense_variant,p.His554Leu,ENST00000268893,NM_024418.2;BZRAP1,missense_variant,p.His614Leu,ENST00000343736,;BZRAP1,downstream_gene_variant,,ENST00000583624,;							MODERATE	1841/5574	H614L	RIMB1_HUMAN			Transcript		benign(0.106)	.	ENSP00000345824		CCDS11605.1			1	
OR3A2	0	LGGM	GRCh37	17	3182147	3182147	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	5	8	.	.	ENST00000408891.2:c.83A>T	p.Gln28Leu	p.Q28L	ENST00000408891	NM_002551.3	28	cAa/cTa	0	1	1	UPI0000050B3C	0	NA	ENST00000408891		ENSG00000221882	8283		13	0.865		HGNC	p.Q28L		OR3A2		SNV							ENST00000408891	protein_coding	getma.org/?cm=var&var=hg19,17,3182147,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF7,Superfamily_domains:SSF81321		Q/L		A	low	122/1076		getma.org/?cm=msa&ty=f&p=OR3A2_HUMAN&rb=1&re=147&var=Q28L	deleterious(0)				YES	OR3A2,missense_variant,p.Gln28Leu,ENST00000408891,NM_002551.3;RP11-64J4.2,non_coding_transcript_exon_variant,,ENST00000573491,;RP11-64J4.2,downstream_gene_variant,,ENST00000576166,;							MODERATE	83/966	Q28L	OR3A2_HUMAN			Transcript		benign(0.001)	.	ENSP00000386180		CCDS42233.1			1	
SIX5	0	LGGM	GRCh37	19	46268918	46268918	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	35	8	.	.	ENST00000317578.6:c.2061A>T	p.Thr687=	p.T687=	ENST00000317578	NM_175875.4	687	acA/acT	0	1	1	UPI0000366E2B	0		ENST00000317578		ENSG00000177045	10891		43			HGNC	p.T687T		SIX5		SNV			1				ENST00000317578	protein_coding			hmmpanther:PTHR10390:SF32,hmmpanther:PTHR10390		T		A		2443/3318							YES	SIX5,synonymous_variant,p.=,ENST00000317578,NM_175875.4;SIX5,3_prime_UTR_variant,,ENST00000560168,;SIX5,3_prime_UTR_variant,,ENST00000560160,;DMPK,downstream_gene_variant,,ENST00000600757,;DMPK,downstream_gene_variant,,ENST00000343373,NM_001081563.1;DMPK,downstream_gene_variant,,ENST00000291270,NM_004409.3;DMPK,downstream_gene_variant,,ENST00000447742,NM_001081562.1,NM_001081560.1;AC074212.3,downstream_gene_variant,,ENST00000457052,;DMPK,downstream_gene_variant,,ENST00000458663,;DMPK,downstream_gene_variant,,ENST00000354227,NM_001288766.1;DMPK,downstream_gene_variant,,ENST00000593574,;AC074212.5,non_coding_transcript_exon_variant,,ENST00000559756,;AC074212.5,upstream_gene_variant,,ENST00000592217,;AC074212.6,upstream_gene_variant,,ENST00000590076,;DMPK,downstream_gene_variant,,ENST00000588522,NM_001288765.1,NM_001288764.1;DMPK,downstream_gene_variant,,ENST00000596686,;DMPK,downstream_gene_variant,,ENST00000598272,;							LOW	2061/2220		SIX5_HUMAN			Transcript			.	ENSP00000316842		CCDS12673.1			1	
TDRD15	0	LGGM	GRCh37	2	21363312	21363312	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	44	8	.	.	ENST00000405799.1:c.2973A>T	p.Leu991=	p.L991=	ENST00000405799		991	ctA/ctT	0	1	1	UPI000173A3F5	0		ENST00000405799		ENSG00000218819	45037		52			HGNC	p.L991L		TDRD15		SNV							ENST00000405799	protein_coding			hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF2,Pfam_domain:PF00567,Gene3D:2.30.30.140,Superfamily_domains:SSF63748		L		T		3303/6135							YES	TDRD15,synonymous_variant,p.=,ENST00000405799,;							LOW	2973/5805		TDR15_HUMAN			Transcript			.	ENSP00000384376					1	
RTKN2	0	LGGM	GRCh37	10	63957726	63957726	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	23	8	.	.	ENST00000373789.3:c.1771A>T	p.Arg591Trp	p.R591W	ENST00000373789	NM_145307.2	591	Agg/Tgg	0	1	1	UPI000007413A	0	NA	ENST00000373789		ENSG00000182010	19364		31	1.895		HGNC	p.R591W		RTKN2		SNV							ENST00000373789	protein_coding	getma.org/?cm=var&var=hg19,10,63957726,T,A&fts=all				R/W		A	low	1868/6641		getma.org/?cm=msa&ty=f&p=RTKN2_HUMAN&rb=393&re=592&var=R591W	deleterious(0)				YES	RTKN2,missense_variant,p.Arg591Trp,ENST00000373789,NM_145307.2;RTKN2,intron_variant,,ENST00000315289,;RTKN2,intron_variant,,ENST00000395265,;							MODERATE	1771/1830	R591W	RTKN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362894		CCDS7263.1			1	
SHC2	0	LGGM	GRCh37	19	422271	422271	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	2	8	.	.	ENST00000264554.6:c.1495A>T	p.Arg499Trp	p.R499W	ENST00000264554	NM_012435.2	499	Agg/Tgg	0	1	1	UPI0000DD84C2	0	getma.org/pdb.php?prot=SHC2_HUMAN&from=487&to=558&var=R499W	ENST00000264554		ENSG00000129946	29869		10	2.75		HGNC	p.R499W		SHC2		SNV							ENST00000264554	protein_coding	getma.org/?cm=var&var=hg19,19,422271,T,A&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF5,Pfam_domain:PF00017,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401		R/W		A	medium	1495/2494		getma.org/?cm=msa&ty=f&p=SHC2_HUMAN&rb=487&re=558&var=R499W	deleterious(0)				YES	SHC2,missense_variant,p.Arg499Trp,ENST00000264554,NM_012435.2;SHC2,3_prime_UTR_variant,,ENST00000590170,;SHC2,non_coding_transcript_exon_variant,,ENST00000589922,;SHC2,non_coding_transcript_exon_variant,,ENST00000588376,;SHC2,upstream_gene_variant,,ENST00000587423,;							MODERATE	1495/1749	R499W	SHC2_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000264554		CCDS45891.1			1	
ATP13A5	0	LGGM	GRCh37	3	193023395	193023395	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	47	8	.	.	ENST00000342358.4:c.2631T>C	p.Pro877=	p.P877=	ENST00000342358	NM_198505.2	877	ccT/ccC	0	1	1	UPI000050EC1D	0		ENST00000342358		ENSG00000187527	31789		55			HGNC	p.P877P	COSM1042611	ATP13A5		SNV						1	ENST00000342358	protein_coding			Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01494,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093		P		G		2749/4027							YES	ATP13A5,synonymous_variant,p.=,ENST00000342358,NM_198505.2;ATP13A5-AS1,upstream_gene_variant,,ENST00000414634,;ATP13A5,non_coding_transcript_exon_variant,,ENST00000495496,;					1		LOW	2631/3657		AT135_HUMAN			Transcript			.	ENSP00000341942		CCDS33914.1			1	
SERTAD4	0	LGGM	GRCh37	1	210415350	210415350	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	69	9	.	.	ENST00000367012.3:c.739G>C	p.Asp247His	p.D247H	ENST00000367012	NM_019605.3	247	Gat/Cat	0	1	1	UPI0000070BBE	0	NA	ENST00000367012		ENSG00000082497	25236		78	0.55		HGNC	p.D247H		SERTAD4		SNV							ENST00000367012	protein_coding	getma.org/?cm=var&var=hg19,1,210415350,G,C&fts=all		hmmpanther:PTHR14272,hmmpanther:PTHR14272:SF3		D/H		C	neutral	969/5219		getma.org/?cm=msa&ty=f&p=SRTD4_HUMAN&rb=145&re=344&var=D247H	tolerated(0.06)				YES	SERTAD4,missense_variant,p.Asp247His,ENST00000367012,NM_019605.3;SERTAD4,non_coding_transcript_exon_variant,,ENST00000490620,;SERTAD4,intron_variant,,ENST00000482421,;SERTAD4,intron_variant,,ENST00000483884,;							MODERATE	739/1071	D247H	SRTD4_HUMAN			Transcript		benign(0.201)	.	ENSP00000355979		CCDS1494.1			1	
PREX2	0	LGGM	GRCh37	8	69020555	69020555	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	56	9	.	.	ENST00000288368.4:c.2927C>T	p.Ser976Phe	p.S976F	ENST00000288368	NM_024870.2	976	tCt/tTt	0	1	1	UPI0000375435	0	NA	ENST00000288368		ENSG00000046889	22950		65	0.345		HGNC	p.S976F		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,69020555,C,T&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1		S/F		T	neutral	3204/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=946&re=1145&var=S976F	tolerated_low_confidence(0.18)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Ser976Phe,ENST00000288368,NM_024870.2,NM_025170.4;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,;PREX2,downstream_gene_variant,,ENST00000529398,;							MODERATE	2927/4821	S976F	PREX2_HUMAN			Transcript		benign(0.005)	.	ENSP00000288368		CCDS6201.1			1	
MAD1L1	0	LGGM	GRCh37	7	2260621	2260621	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	18	9	.	.	ENST00000406869.1:c.472-1530T>G		*158*	ENST00000406869				0	1		UPI0000072C4D	0		ENST00000265854		ENSG00000002822	6762		27			HGNC	p.S31S		MAD1L1		SNV							ENST00000402746	protein_coding							C		-/2500				C9K086_HUMAN,C9JX80_HUMAN,C9JTA2_HUMAN,C9JKI7_HUMAN,C9JJ38_HUMAN,C9J9H5_HUMAN				MAD1L1,synonymous_variant,p.=,ENST00000402746,;MAD1L1,intron_variant,,ENST00000406869,;MAD1L1,intron_variant,,ENST00000399654,NM_001013837.1,NM_003550.2,NM_001013836.1;MAD1L1,intron_variant,,ENST00000265854,;MAD1L1,intron_variant,,ENST00000445959,;MAD1L1,intron_variant,,ENST00000429625,;MAD1L1,intron_variant,,ENST00000455998,;MAD1L1,downstream_gene_variant,,ENST00000429779,;MAD1L1,upstream_gene_variant,,ENST00000469871,;							MODIFIER	-/2157		MD1L1_HUMAN			Transcript			.	ENSP00000265854		CCDS43539.1			1	
KCNQ3	0	LGGM	GRCh37	8	133146606	133146606	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	40	9	.	.	ENST00000388996.4:c.1730C>G	p.Pro577Arg	p.P577R	ENST00000388996	NM_004519.3	577	cCc/cGc	0	1	1	UPI00001279F0	0	NA	ENST00000388996		ENSG00000184156	6297		49	0.895		HGNC	p.P577R		KCNQ3		SNV			1				ENST00000388996	protein_coding	getma.org/?cm=var&var=hg19,8,133146606,G,C&fts=all		Pfam_domain:PF03520,Prints_domain:PR01462		P/R		C	low	2151/11441		getma.org/?cm=msa&ty=f&p=KCNQ3_HUMAN&rb=444&re=666&var=P577R	tolerated(0.08)				YES	KCNQ3,missense_variant,p.Pro577Arg,ENST00000388996,NM_004519.3;KCNQ3,missense_variant,p.Pro577Arg,ENST00000519445,;KCNQ3,missense_variant,p.Pro457Arg,ENST00000521134,NM_001204824.1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;							MODERATE	1730/2619	P577R	KCNQ3_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000373648		CCDS34943.1			1	
DNTTIP2	0	LGGM	GRCh37	1	94343243	94343243	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	105	9	.	.	ENST00000436063.2:c.248C>T	p.Thr83Met	p.T83M	ENST00000436063	NM_014597.4	83	aCg/aTg	0	1	1	UPI000006F063	0	NA	ENST00000436063		ENSG00000067334	24013	0.000605	114	2.015		HGNC	p.T83M	rs779262659	DNTTIP2		SNV							ENST00000436063	protein_coding	getma.org/?cm=var&var=hg19,1,94343243,G,A&fts=all		hmmpanther:PTHR21686,hmmpanther:PTHR21686:SF12		T/M		A	medium	306/4363		getma.org/?cm=msa&ty=f&p=TDIF2_HUMAN&rb=55&re=163&var=T83M	deleterious(0)				YES	DNTTIP2,missense_variant,p.Thr83Met,ENST00000436063,NM_014597.4;DNTTIP2,missense_variant,p.Thr90Met,ENST00000528680,;DNTTIP2,non_coding_transcript_exon_variant,,ENST00000460191,;DNTTIP2,intron_variant,,ENST00000496672,;DNTTIP2,upstream_gene_variant,,ENST00000496535,;DNTTIP2,missense_variant,p.Thr83Met,ENST00000359208,;							MODERATE	248/2271	T83M	TDIF2_HUMAN			Transcript		possibly_damaging(0.742)	common_variant	ENSP00000411010	5.79E-05	CCDS44174.1			1	
VPS13B	0	LGGM	GRCh37	8	100831769	100831769	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	103	9	.	.	ENST00000358544.2:c.8826G>A	p.Ser2942=	p.S2942=	ENST00000358544	NM_017890.4	2942	tcG/tcA	0	1	1	UPI00001D2D35	0		ENST00000358544		ENSG00000132549	2183		112			HGNC	p.S2942S	rs775883776	VPS13B	0.000485	SNV			1				ENST00000358544	protein_coding			hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		S		A		8937/14094							YES	VPS13B,synonymous_variant,p.=,ENST00000358544,NM_017890.4;VPS13B,synonymous_variant,p.=,ENST00000357162,NM_152564.4;VPS13B,3_prime_UTR_variant,,ENST00000395996,;	0.000819						LOW	8826/12069		VP13B_HUMAN			Transcript			common_variant	ENSP00000351346	0.000124	CCDS6280.1			1	
ACACB	0	LGGM	GRCh37	12	109654421	109654421	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	10	.	.	ENST00000338432.7:c.3351-2A>T		p.X1117_splice	ENST00000338432				0	1	1	UPI0000DBEEFB	0		ENST00000338432		ENSG00000076555	85		24			HGNC	-		ACACB		SNV							ENST00000338432	protein_coding							T		-/9360				F5H5C3_HUMAN,E9PEW7_HUMAN			YES	ACACB,splice_acceptor_variant,,ENST00000338432,;ACACB,splice_acceptor_variant,,ENST00000377848,NM_001093.3;ACACB,intron_variant,,ENST00000377854,;							HIGH	3351/7377		ACACB_HUMAN			Transcript			.	ENSP00000341044		CCDS31898.1			1	
SPTBN4	0	LGGM	GRCh37	19	41063116	41063116	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	9	10	.	.	ENST00000352632.3:c.5477G>A	p.Arg1826Gln	p.R1826Q	ENST00000352632		1826	cGg/cAg	0	1	1	UPI0000135DBB	0	getma.org/pdb.php?prot=SPTN4_HUMAN&from=1727&to=1832&var=R1826Q	ENST00000352632		ENSG00000160460	14896		19	3.235		HGNC	p.R1826Q		SPTBN4		SNV							ENST00000338932	protein_coding	getma.org/?cm=var&var=hg19,19,41063116,G,A&fts=all		hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/Q		A	medium	5563/8676		getma.org/?cm=msa&ty=f&p=SPTN4_HUMAN&rb=1727&re=1832&var=R1826Q	deleterious(0)				YES	SPTBN4,missense_variant,p.Arg1826Gln,ENST00000352632,;SPTBN4,missense_variant,p.Arg1826Gln,ENST00000598249,NM_020971.2;SPTBN4,missense_variant,p.Arg1826Gln,ENST00000338932,;SPTBN4,missense_variant,p.Arg1826Gln,ENST00000595535,;SPTBN4,missense_variant,p.Arg569Gln,ENST00000392025,;SPTBN4,missense_variant,p.Arg502Gln,ENST00000392023,NM_025213.2;SPTBN4,3_prime_UTR_variant,,ENST00000597389,;SPTBN4,downstream_gene_variant,,ENST00000596900,;							MODERATE	5477/7695	R1826Q	SPTN4_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000263373		CCDS12559.1			1	
MUC19	0	LGGM	GRCh37	12	40939138	40939138	+	splice_region_variant,3_prime_UTR_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	23	10	.	.	ENST00000454784.4:c.*6134T>C		p.X2045_splice	ENST00000454784				0	1	1	UPI0003B927DE	0		ENST00000454784		ENSG00000205592	14362		33			HGNC	p.V15A		MUC19		SNV							ENST00000538912	protein_coding							C		17760/19628				C9JCE7_HUMAN			YES	MUC19,splice_region_variant,,ENST00000454784,;MUC19,downstream_gene_variant,,ENST00000424466,;MUC19,splice_region_variant,,ENST00000460785,;MUC19,splice_region_variant,,ENST00000492952,;MUC19,missense_variant,p.Val119Ala,ENST00000380816,;MUC19,splice_region_variant,,ENST00000541039,;							LOW	-/10893					Transcript			.	ENSP00000476404					1	
LPHN3	0	LGGM	GRCh37	4	62936357	62936357	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	15	10	.	.	ENST00000514591.1:c.4141A>T	p.Ser1381Cys	p.S1381C	ENST00000514591		1381	Agc/Tgc	0	1	1	UPI00016278EF	0	NA	ENST00000514591		ENSG00000150471	20974		25	2.31		HGNC	p.S1440C		LPHN3		SNV							ENST00000507625	protein_coding	getma.org/?cm=var&var=hg19,4,62936357,A,T&fts=all		Pfam_domain:PF02354		S/C		T	medium	4470/6297		getma.org/?cm=msa&ty=f&p=LPHN3_HUMAN&rb=1181&re=1447&var=S1359C	deleterious_low_confidence(0)	Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,missense_variant,p.Ser1381Cys,ENST00000514591,;LPHN3,missense_variant,p.Ser1381Cys,ENST00000545650,NM_015236.4;LPHN3,missense_variant,p.Ser1492Cys,ENST00000506720,;LPHN3,missense_variant,p.Ser1483Cys,ENST00000506746,;LPHN3,missense_variant,p.Ser1440Cys,ENST00000507625,;LPHN3,missense_variant,p.Ser1424Cys,ENST00000508946,;LPHN3,missense_variant,p.Ser1415Cys,ENST00000514996,;LPHN3,missense_variant,p.Ser830Cys,ENST00000502815,;LPHN3,3_prime_UTR_variant,,ENST00000512091,;LPHN3,3_prime_UTR_variant,,ENST00000509896,;LPHN3,3_prime_UTR_variant,,ENST00000511324,;LPHN3,3_prime_UTR_variant,,ENST00000508693,;LPHN3,3_prime_UTR_variant,,ENST00000507164,;LPHN3,3_prime_UTR_variant,,ENST00000506700,;LPHN3,3_prime_UTR_variant,,ENST00000504896,;LPHN3,3_prime_UTR_variant,,ENST00000514157,;RP11-84A1.3,downstream_gene_variant,,ENST00000506704,;RP11-84A1.3,downstream_gene_variant,,ENST00000504135,;RP11-84A1.3,downstream_gene_variant,,ENST00000509461,;							MODERATE	4141/4410	S1359C				Transcript		probably_damaging(1)	.	ENSP00000422533		CCDS54768.1			1	
PNLIP	0	LGGM	GRCh37	10	118310668	118310668	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	4	10	.	.	ENST00000369221.2:c.383G>A	p.Arg128Gln	p.R128Q	ENST00000369221	NM_000936.2	128	cGa/cAa	0	1	1	UPI000004F1A0	0	getma.org/pdb.php?prot=LIPP_HUMAN&from=17&to=352&var=R128Q	ENST00000369221		ENSG00000175535	9155	9.62E-05	14	0.5		HGNC	p.R128Q	rs781625860	PNLIP		SNV			1				ENST00000369221	protein_coding	getma.org/?cm=var&var=hg19,10,118310668,G,A&fts=all		hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF82,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474,Prints_domain:PR00821,Prints_domain:PR00823		R/Q		A	neutral	411/1483	8.60E-05	getma.org/?cm=msa&ty=f&p=LIPP_HUMAN&rb=17&re=352&var=R128Q	tolerated(0.37)				YES	PNLIP,missense_variant,p.Arg128Gln,ENST00000369221,NM_000936.2;PNLIP,non_coding_transcript_exon_variant,,ENST00000470562,;							MODERATE	383/1398	R128Q	LIPP_HUMAN			Transcript		benign(0.009)	.	ENSP00000358223	4.94E-05	CCDS7594.1			1	
ARPC1B	0	LGGM	GRCh37	7	98991673	98991673	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	10	.	.	ENST00000451682.1:c.1011C>T	p.Gly337=	p.G337=	ENST00000451682		337	ggC/ggT	0	1		UPI0000125D33	0		ENST00000252725		ENSG00000130429	704		31			HGNC	p.G337G	COSM1453258	ARPC1B		SNV						1	ENST00000252725	protein_coding			Gene3D:2.130.10.10,PIRSF_domain:PIRSF038093,hmmpanther:PTHR10709,hmmpanther:PTHR10709:SF10,SMART_domains:SM00320,Superfamily_domains:SSF50978		G		T		1131/1551				F8VXW2_HUMAN,C9K057_HUMAN,C9JTT6_HUMAN,C9JQM8_HUMAN,C9JM51_HUMAN,C9JFG9_HUMAN,C9JEY1_HUMAN,C9JBJ7_HUMAN,C9J6C8_HUMAN,C9J4Z7_HUMAN,A4D275_HUMAN				ARPC1B,synonymous_variant,p.=,ENST00000451682,;ARPC1B,synonymous_variant,p.=,ENST00000252725,NM_005720.3;PDAP1,downstream_gene_variant,,ENST00000350498,NM_014891.6;ARPC1B,non_coding_transcript_exon_variant,,ENST00000463078,;PDAP1,intron_variant,,ENST00000496335,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000491294,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000481997,;ARPC1B,downstream_gene_variant,,ENST00000468337,;ARPC1B,downstream_gene_variant,,ENST00000432343,;ARPC1B,downstream_gene_variant,,ENST00000484375,;PDAP1,downstream_gene_variant,,ENST00000426447,;ARPC1B,downstream_gene_variant,,ENST00000445924,;ARPC1B,downstream_gene_variant,,ENST00000484600,;					1		LOW	1011/1119		ARC1B_HUMAN			Transcript			.	ENSP00000252725		CCDS5661.1			1	
PCDHB14	0	LGGM	GRCh37	5	140603479	140603479	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	37	10	.	.	ENST00000239449.4:c.402A>T	p.Leu134=	p.L134=	ENST00000239449	NM_018934.2	134	ctA/ctT	0	1	1	UPI00001273E7	0		ENST00000239449		ENSG00000120327	8685		47			HGNC	p.L134L		PCDHB14		SNV							ENST00000239449	protein_coding			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81,Superfamily_domains:SSF49313		L		T		402/2781				B4DPE2_HUMAN			YES	PCDHB14,splice_acceptor_variant,,ENST00000515856,;PCDHB14,synonymous_variant,p.=,ENST00000239449,NM_018934.2;							LOW	402/2397		PCDBE_HUMAN			Transcript			.	ENSP00000239449		CCDS4256.1			1	
ADAMTS15	0	LGGM	GRCh37	11	130343452	130343452	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	3	10	.	.	ENST00000299164.2:c.2589G>C	p.Ala863=	p.A863=	ENST00000299164	NM_139055.2	863	gcG/gcC	0	1	1	UPI000004F277	0		ENST00000299164		ENSG00000166106	16305		13			HGNC	p.A863A		ADAMTS15		SNV							ENST00000299164	protein_coding			Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF39,SMART_domains:SM00209,Superfamily_domains:SSF82895		A		C		2589/5669							YES	ADAMTS15,synonymous_variant,p.=,ENST00000299164,NM_139055.2;							LOW	2589/2853		ATS15_HUMAN			Transcript			.	ENSP00000299164		CCDS8488.1			1	
KPNA5	0	LGGM	GRCh37	6	117053341	117053341	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	13	10	.	.	ENST00000368564.1:c.1475A>G	p.Glu492Gly	p.E492G	ENST00000368564		492	gAa/gGa	0	1		UPI000000DBE6	0	getma.org/pdb.php?prot=IMA5_HUMAN&from=451&to=536&var=E489G	ENST00000356348		ENSG00000196911	6398		23	3.435		HGNC	p.E492G		KPNA5		SNV							ENST00000368564	protein_coding	getma.org/?cm=var&var=hg19,6,117053341,A,G&fts=all		hmmpanther:PTHR23316:SF10,hmmpanther:PTHR23316,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371		E/G		G	medium	1606/2157		getma.org/?cm=msa&ty=f&p=IMA5_HUMAN&rb=451&re=536&var=E489G	deleterious(0)	Q5TD90_HUMAN				KPNA5,missense_variant,p.Glu492Gly,ENST00000368564,;KPNA5,missense_variant,p.Glu492Gly,ENST00000356348,NM_002269.2;KPNA5,missense_variant,p.Glu75Gly,ENST00000392517,;							MODERATE	1475/1620	E489G	IMA6_HUMAN			Transcript		possibly_damaging(0.655)	.	ENSP00000348704		CCDS5111.1			1	
NAV3	0	LGGM	GRCh37	12	78444692	78444692	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	20	11	.	.	ENST00000536525.2:c.2281G>T	p.Ala761Ser	p.A761S	ENST00000536525	NM_014903.4	761	Gct/Tct	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		31	-0.895		HGNC	p.A761S		NAV3		SNV							ENST00000266692	protein_coding	getma.org/?cm=var&var=hg19,12,78444692,G,T&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		A/S		T	neutral	2454/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=670&re=1929&var=A761S	tolerated(0.69)	F8VZV4_HUMAN				NAV3,missense_variant,p.Ala761Ser,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ala761Ser,ENST00000228327,;NAV3,missense_variant,p.Ala761Ser,ENST00000266692,;NAV3,missense_variant,p.Ala761Ser,ENST00000536525,NM_014903.4;NAV3,downstream_gene_variant,,ENST00000549464,;RP11-136F16.1,downstream_gene_variant,,ENST00000549103,;							MODERATE	2281/7158	A761S	NAV3_HUMAN			Transcript		benign(0.002)	.	ENSP00000381007		CCDS66432.1			1	
RTTN	0	LGGM	GRCh37	18	67776794	67776794	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	7	11	.	.	ENST00000255674.6:c.3843A>T	p.Ser1281=	p.S1281=	ENST00000255674	NM_173630.3	1281	tcA/tcT	0	1	1	UPI0000201E92	0		ENST00000255674		ENSG00000176225	18654		18			HGNC	p.S1281S		RTTN		SNV			1				ENST00000255674	protein_coding			hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691		S		A		4130/7326							YES	RTTN,synonymous_variant,p.=,ENST00000255674,NM_173630.3;RTTN,synonymous_variant,p.=,ENST00000437017,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,non_coding_transcript_exon_variant,,ENST00000581709,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;							LOW	3843/6681		RTTN_HUMAN			Transcript			.	ENSP00000255674		CCDS42443.1			1	
SUPT16H	0	LGGM	GRCh37	14	21831416	21831416	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	12	11	.	.	ENST00000216297.2:c.1371A>T	p.Ala457=	p.A457=	ENST00000216297	NM_007192.3	457	gcA/gcT	0	1	1	UPI0000035D5C	0		ENST00000216297		ENSG00000092201	11465		23			HGNC	p.A457A		SUPT16H		SNV							ENST00000216297	protein_coding			hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980		A		A		1710/4684							YES	SUPT16H,synonymous_variant,p.=,ENST00000216297,NM_007192.3;SUPT16H,upstream_gene_variant,,ENST00000557394,;							LOW	1371/3144		SP16H_HUMAN			Transcript			.	ENSP00000216297		CCDS9569.1			1	
SEL1L	0	LGGM	GRCh37	14	81954266	81954266	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	16	11	.	.	ENST00000336735.4:c.1416G>C	p.Lys472Asn	p.K472N	ENST00000336735	NM_005065.5	472	aaG/aaC	0	1	1	UPI0000135746	0	NA	ENST00000336735		ENSG00000071537	10717		27	1.065		HGNC	p.K472N		SEL1L		SNV							ENST00000336735	protein_coding	getma.org/?cm=var&var=hg19,14,81954266,C,G&fts=all		hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,Pfam_domain:PF08238,Gene3D:1.25.40.10,SMART_domains:SM00671,Superfamily_domains:SSF81901		K/N		G	low	1533/7925		getma.org/?cm=msa&ty=f&p=SE1L1_HUMAN&rb=447&re=482&var=K472N	deleterious(0.04)				YES	SEL1L,missense_variant,p.Lys472Asn,ENST00000336735,NM_005065.5;SEL1L,upstream_gene_variant,,ENST00000554293,;SEL1L,downstream_gene_variant,,ENST00000555923,;							MODERATE	1416/2385	K472N	SE1L1_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000337053		CCDS9876.1			1	
TECRL	0	LGGM	GRCh37	4	65274924	65274924	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	6	11	.	.	ENST00000381210.3:c.146C>A	p.Thr49Asn	p.T49N	ENST00000381210	NM_001010874.4	49	aCt/aAt	0	1	1	UPI0000141A54	0	NA	ENST00000381210		ENSG00000205678	27365		17	1.61		HGNC	p.T49N		TECRL		SNV							ENST00000509536	protein_coding	getma.org/?cm=var&var=hg19,4,65274924,G,T&fts=all		hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27		T/N		T	low	257/3573		getma.org/?cm=msa&ty=f&p=TECRL_HUMAN&rb=1&re=200&var=T49N	tolerated(0.25)	D6RBZ3_HUMAN			YES	TECRL,missense_variant,p.Thr49Asn,ENST00000381210,NM_001010874.4;TECRL,missense_variant,p.Thr49Asn,ENST00000507440,;TECRL,missense_variant,p.Thr49Asn,ENST00000509536,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;							MODERATE	146/1092	T49N	TECRL_HUMAN			Transcript		benign(0.07)	.	ENSP00000370607		CCDS33990.1			1	
PDE10A	0	LGGM	GRCh37	6	165806238	165806238	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	15	11	.	.	ENST00000539869.2:c.1553A>G	p.Asn518Ser	p.N518S	ENST00000539869	NM_001130690.2	518	aAc/aGc	0	1		UPI0000039E34	0	getma.org/pdb.php?prot=PDE10_HUMAN&from=413&to=513&var=N508S	ENST00000366882		ENSG00000112541	8772		26	2.455		HGNC	p.N508S		PDE10A		SNV							ENST00000354448	protein_coding	getma.org/?cm=var&var=hg19,6,165806238,T,C&fts=all		Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79		N/S		C	medium	1678/8233		getma.org/?cm=msa&ty=f&p=PDE10_HUMAN&rb=413&re=513&var=N508S	deleterious(0)	Q9HCQ1_HUMAN				PDE10A,missense_variant,p.Asn508Ser,ENST00000366882,;PDE10A,missense_variant,p.Asn508Ser,ENST00000354448,;PDE10A,missense_variant,p.Asn518Ser,ENST00000539869,NM_001130690.2;							MODERATE	1523/2340	N508S	PDE10_HUMAN			Transcript		benign(0.149)	.	ENSP00000355847					1	
TTN	0	LGGM	GRCh37	2	179629425	179629425	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	37	12	.	.	ENST00000589042.1:c.9817T>C	p.Tyr3273His	p.Y3273H	ENST00000589042	NM_001267550.1	3273	Tac/Cac	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=3239&to=3328&var=Y3273H	ENST00000591111		ENSG00000155657	12403		49	2.03		HGNC	p.Y3227H		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179629425,A,G&fts=all		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		Y/H		G	medium	10042/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=3239&re=3328&var=Y3273H		C9JQJ2_HUMAN				TTN,missense_variant,p.Tyr3273His,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Tyr3273His,ENST00000591111,;TTN,missense_variant,p.Tyr3273His,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Tyr3227His,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Tyr3227His,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Tyr3227His,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Tyr3273His,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000590773,;							MODERATE	9817/103053	Y3273H	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GPR139	0	LGGM	GRCh37	16	20043773	20043773	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	3	12	.	.	ENST00000570682.1:c.346A>T	p.Ile116Leu	p.I116L	ENST00000570682	NM_001002911.2	116	Ata/Tta	0	1	1	UPI000004C566	0	getma.org/pdb.php?prot=GP139_HUMAN&from=43&to=285&var=I116L	ENST00000570682		ENSG00000180269	19995		15	1.115		HGNC	p.I116L		GPR139		SNV							ENST00000570682	protein_coding	getma.org/?cm=var&var=hg19,16,20043773,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22751:SF49,hmmpanther:PTHR22751,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/L		A	low	647/1613		getma.org/?cm=msa&ty=f&p=GP139_HUMAN&rb=43&re=285&var=I116L	deleterious(0.02)				YES	GPR139,missense_variant,p.Ile116Leu,ENST00000570682,NM_001002911.2;GPR139,3_prime_UTR_variant,,ENST00000326571,;							MODERATE	346/1062	I116L	GP139_HUMAN			Transcript		benign(0.235)	.	ENSP00000458791		CCDS32398.1			1	
PARP9	0	LGGM	GRCh37	3	122277282	122277282	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	12	.	.	ENST00000360356.2:c.48A>T	p.Ser16=	p.S16=	ENST00000360356	NM_001146102.1	16	tcA/tcT	0	1	1	UPI000013D133	0		ENST00000360356		ENSG00000138496	24118		33			HGNC	p.S16S		PARP9		SNV							ENST00000360356	protein_coding			hmmpanther:PTHR14453:SF11,hmmpanther:PTHR14453		S		A		276/3198				Q658Y0_HUMAN			YES	PARP9,splice_region_variant,p.=,ENST00000462315,NM_001146106.1;PARP9,splice_region_variant,p.=,ENST00000477522,NM_001146103.1,NM_001146105.1;PARP9,splice_region_variant,p.=,ENST00000471785,NM_001146104.1;PARP9,splice_region_variant,p.=,ENST00000492382,;PARP9,synonymous_variant,p.=,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,intron_variant,,ENST00000466126,;							LOW	48/2565		PARP9_HUMAN			Transcript			.	ENSP00000353512		CCDS3014.1			1	
CNP	0	LGGM	GRCh37	17	40125667	40125667	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	24	12	.	.	ENST00000393892.3:c.991A>G	p.Ile331Val	p.I331V	ENST00000393892	NM_033133.4	331	Atc/Gtc	0	1	1	UPI0000127BEE	0	getma.org/pdb.php?prot=CN37_HUMAN&from=186&to=421&var=I331V	ENST00000393892		ENSG00000173786	2158		36	0.27		HGNC	p.I311V		CNP		SNV							ENST00000393888	protein_coding	getma.org/?cm=var&var=hg19,17,40125667,A,G&fts=all		Pfam_domain:PF05881,PIRSF_domain:PIRSF000970,hmmpanther:PTHR10156,hmmpanther:PTHR10156:SF0,Superfamily_domains:SSF55144		I/V		G	neutral	1135/5217		getma.org/?cm=msa&ty=f&p=CN37_HUMAN&rb=186&re=421&var=I331V	tolerated(0.45)	K7ERZ0_HUMAN,K7EN66_HUMAN,C9K0L8_HUMAN,B4DFN6_HUMAN			YES	CNP,missense_variant,p.Ile331Val,ENST00000393892,NM_033133.4;CNP,missense_variant,p.Ile311Val,ENST00000393888,;CNP,missense_variant,p.Ile96Val,ENST00000591072,;CNP,3_prime_UTR_variant,,ENST00000472031,;DNAJC7,downstream_gene_variant,,ENST00000457167,NM_003315.3;DNAJC7,downstream_gene_variant,,ENST00000426588,NM_001144766.2;DNAJC7,downstream_gene_variant,,ENST00000316603,;CNP,downstream_gene_variant,,ENST00000587679,;DNAJC7,downstream_gene_variant,,ENST00000587727,;CNP,non_coding_transcript_exon_variant,,ENST00000592105,;CNP,non_coding_transcript_exon_variant,,ENST00000486438,;DNAJC7,downstream_gene_variant,,ENST00000588814,;CNP,downstream_gene_variant,,ENST00000592861,;							MODERATE	991/1266	I331V	CN37_HUMAN			Transcript		benign(0.004)	.	ENSP00000377470		CCDS11414.2			1	
COL27A1	0	LGGM	GRCh37	9	116958276	116958276	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	15	12	.	.	ENST00000356083.3:c.2108G>A	p.Gly703Glu	p.G703E	ENST00000356083	NM_032888.2	703	gGa/gAa	0	1	1	UPI0000062271	0	NA	ENST00000356083		ENSG00000196739	22986		27	3.005		HGNC	p.G632E		COL27A1		SNV							ENST00000451716	protein_coding	getma.org/?cm=var&var=hg19,9,116958276,G,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362,Low_complexity_(Seg):seg		G/E		A	medium	2499/7790		getma.org/?cm=msa&ty=f&p=CORA1_HUMAN&rb=681&re=746&var=G703E					YES	COL27A1,missense_variant,p.Gly703Glu,ENST00000356083,NM_032888.2;COL27A1,missense_variant,p.Gly632Glu,ENST00000451716,;COL27A1,missense_variant,p.Gly335Glu,ENST00000494090,;							MODERATE	2108/5583	G703E	CORA1_HUMAN			Transcript		unknown(0)	.	ENSP00000348385		CCDS6802.1			1	
SLC16A9	0	LGGM	GRCh37	10	61424023	61424023	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	13	.	.	ENST00000395348.3:c.398A>T	p.Asp133Val	p.D133V	ENST00000395348	NM_194298.2	133	gAc/gTc	0	1		UPI000004D33D	0	NA	ENST00000395347		ENSG00000165449	23520		34	1.535		HGNC	p.D133V		SLC16A9		SNV							ENST00000395348	protein_coding	getma.org/?cm=var&var=hg19,10,61424023,T,A&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850		D/V		A	low	507/3646		getma.org/?cm=msa&ty=f&p=MOT9_HUMAN&rb=13&re=410&var=D133V	deleterious(0)					SLC16A9,missense_variant,p.Asp133Val,ENST00000395348,NM_194298.2;SLC16A9,missense_variant,p.Asp133Val,ENST00000395347,;							MODERATE	398/1530	D133V	MOT9_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000378756		CCDS7256.1			1	
TSKS	0	LGGM	GRCh37	19	50266458	50266458	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	38	13	.	.	ENST00000246801.3:c.47A>T	p.His16Leu	p.H16L	ENST00000246801	NM_021733.1	16	cAt/cTt	0	1	1	UPI000007272E	0	NA	ENST00000246801		ENSG00000126467	30719		51	0.805		HGNC	p.H16L		TSKS		SNV							ENST00000246801	protein_coding	getma.org/?cm=var&var=hg19,19,50266458,T,A&fts=all		hmmpanther:PTHR14351:SF1,hmmpanther:PTHR14351		H/L		A	low	130/1883		getma.org/?cm=msa&ty=f&p=TSKS_HUMAN&rb=1&re=591&var=H16L	deleterious(0)				YES	TSKS,missense_variant,p.His16Leu,ENST00000246801,NM_021733.1;AP2A1,upstream_gene_variant,,ENST00000354293,NM_130787.2;AP2A1,upstream_gene_variant,,ENST00000359032,NM_014203.2;RNU6-841P,downstream_gene_variant,,ENST00000383872,;AP2A1,upstream_gene_variant,,ENST00000600199,;AP2A1,upstream_gene_variant,,ENST00000597774,;							MODERATE	47/1779	H16L	TSKS_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000246801		CCDS12780.1			1	
LCE1B	0	LGGM	GRCh37	1	152785219	152785219	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	13	.	.	ENST00000360090.3:c.297C>T	p.Pro99=	p.P99=	ENST00000360090	NM_178349.1	99	ccC/ccT	0	1	1	UPI000014099C	0		ENST00000360090		ENSG00000196734	16611		34			HGNC	p.P99P		LCE1B		SNV							ENST00000360090	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Pfam_domain:PF14672		P		T		773/1139							YES	LCE1B,synonymous_variant,p.=,ENST00000360090,NM_178349.1;							LOW	297/357		LCE1B_HUMAN			Transcript			.	ENSP00000353203		CCDS1027.1			1	
AMPH	0	LGGM	GRCh37	7	38502614	38502614	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	18	13	.	.	ENST00000356264.2:c.849T>A	p.Pro283=	p.P283=	ENST00000356264	NM_001635.3	283	ccT/ccA	0	1	1	UPI00001259EA	0		ENST00000356264		ENSG00000078053	471		31			HGNC	p.P283P		AMPH		SNV							ENST00000428293	protein_coding			hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,Low_complexity_(Seg):seg		P		T		1065/3418				Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN			YES	AMPH,synonymous_variant,p.=,ENST00000356264,NM_001635.3;AMPH,synonymous_variant,p.=,ENST00000325590,NM_139316.2;AMPH,synonymous_variant,p.=,ENST00000428293,;AMPH,synonymous_variant,p.=,ENST00000441628,;							LOW	849/2088		AMPH_HUMAN			Transcript			.	ENSP00000348602		CCDS5456.1			1	
DMRT2	0	LGGM	GRCh37	9	1056780	1056780	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	14	.	.	ENST00000382251.3:c.1193T>A	p.Leu398Ter	p.L398*	ENST00000382251		398	tTg/tAg	0	1		UPI000013D066	0	NA	ENST00000358146		ENSG00000173253	2935		28	0		HGNC	p.L398X		DMRT2		SNV							ENST00000382251	protein_coding	getma.org/?cm=var&var=hg19,9,1056780,T,A&fts=all		hmmpanther:PTHR12322,hmmpanther:PTHR12322:SF59		L/*		A	NA	1193/1965		NA						DMRT2,stop_gained,p.Leu398Ter,ENST00000382251,;DMRT2,stop_gained,p.Leu398Ter,ENST00000302441,NM_181872.4;DMRT2,stop_gained,p.Leu398Ter,ENST00000358146,;DMRT2,3_prime_UTR_variant,,ENST00000259622,;DMRT2,3_prime_UTR_variant,,ENST00000382255,NM_001130865.2,NM_006557.6;DMRT2,downstream_gene_variant,,ENST00000412350,;							HIGH	1193/1686	L398*	DMRT2_HUMAN			Transcript			.	ENSP00000350865		CCDS6444.1			1	
KLK5	0	LGGM	GRCh37	19	51446912	51446912	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	32	15	.	.	ENST00000336334.3:c.857A>C	p.Gln286Pro	p.Q286P	ENST00000336334	NM_012427.4	286	cAg/cCg	0	1	1	UPI000013E718	0	getma.org/pdb.php?prot=KLK5_HUMAN&from=67&to=290&var=Q286P	ENST00000336334		ENSG00000167754	6366		47	2.935		HGNC	p.Q286P		KLK5		SNV							ENST00000391809	protein_coding	getma.org/?cm=var&var=hg19,19,51446912,T,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF51,hmmpanther:PTHR24275,Gene3D:2.40.10.10,Superfamily_domains:SSF50494		Q/P		G	medium	1210/1563		getma.org/?cm=msa&ty=f&p=KLK5_HUMAN&rb=67&re=290&var=Q286P	deleterious(0)	M0QXX2_HUMAN			YES	KLK5,missense_variant,p.Gln286Pro,ENST00000336334,NM_012427.4;KLK5,missense_variant,p.Gln286Pro,ENST00000391809,NM_001077491.1;KLK5,missense_variant,p.Gln286Pro,ENST00000593428,NM_001077492.1;KLK5,non_coding_transcript_exon_variant,,ENST00000595585,;							MODERATE	857/882	Q286P	KLK5_HUMAN			Transcript		benign(0.446)	.	ENSP00000337733		CCDS12810.1			1	
TMEM72	0	LGGM	GRCh37	10	45430528	45430528	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	35	15	.	.	ENST00000389583.4:c.774C>T	p.Pro258=	p.P258=	ENST00000389583	NM_001123376.1	258	ccC/ccT	0	1	1	UPI000036669E	0		ENST00000389583		ENSG00000187783	31658		50			HGNC	p.P140P		TMEM72		SNV							ENST00000544540	protein_coding			Low_complexity_(Seg):seg		P		T		1087/3009							YES	TMEM72,synonymous_variant,p.=,ENST00000389583,NM_001123376.1;TMEM72,synonymous_variant,p.=,ENST00000544540,;RP11-285G1.9,upstream_gene_variant,,ENST00000425541,;TMEM72-AS1,intron_variant,,ENST00000450287,;TMEM72,downstream_gene_variant,,ENST00000460364,;							LOW	774/828		TMM72_HUMAN			Transcript			.	ENSP00000374234		CCDS41504.1			1	
WHSC1L1	0	LGGM	GRCh37	8	38187103	38187103	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	11	15	.	.	ENST00000317025.8:c.1374G>A	p.Ala458=	p.A458=	ENST00000317025	NM_023034.1	458	gcG/gcA	0	1	1	UPI000006F297	0		ENST00000317025		ENSG00000147548	12767		26			HGNC	p.A458A	rs750958511	WHSC1L1		SNV							ENST00000317025	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF301		A		T		1892/10776	3.00E-05			E9PQ95_HUMAN,E9PKA2_HUMAN			YES	WHSC1L1,synonymous_variant,p.=,ENST00000317025,NM_023034.1;WHSC1L1,synonymous_variant,p.=,ENST00000433384,;WHSC1L1,synonymous_variant,p.=,ENST00000527502,;WHSC1L1,synonymous_variant,p.=,ENST00000316985,NM_017778.2;WHSC1L1,upstream_gene_variant,,ENST00000528627,;							LOW	1374/4314		NSD3_HUMAN			Transcript			.	ENSP00000313983	1.65E-05	CCDS43729.1			1	
MSH4	0	LGGM	GRCh37	1	76349472	76349472	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	25	15	.	.	ENST00000263187.3:c.2073A>G	p.Lys691=	p.K691=	ENST00000263187	NM_002440.3	691	aaA/aaG	0	1	1	UPI000006D934	0		ENST00000263187		ENSG00000057468	7327		40			HGNC	p.K691K		MSH4		SNV							ENST00000263187	protein_coding			hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF21,Gene3D:3.40.50.300,Pfam_domain:PF00488,SMART_domains:SM00534,Superfamily_domains:SSF52540		K		G		2177/3266				Q5ZEZ0_HUMAN			YES	MSH4,synonymous_variant,p.=,ENST00000263187,NM_002440.3;							LOW	2073/2811		MSH4_HUMAN			Transcript			.	ENSP00000263187		CCDS670.1			1	
PCDHA11	0	LGGM	GRCh37	5	140249765	140249765	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	40	15	.	.	ENST00000398640.2:c.1077A>G	p.Arg359=	p.R359=	ENST00000398640	NM_018902.3	359	cgA/cgG	0	1	1	UPI00001273D4	0		ENST00000398640		ENSG00000249158	8665		55			HGNC	p.R359R		PCDHA11		SNV							ENST00000398640	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Superfamily_domains:SSF49313		R		G		1077/5257							YES	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;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,;							LOW	1077/2850		PCDAB_HUMAN			Transcript			.	ENSP00000381636		CCDS47284.1			1	
SYCP2	0	LGGM	GRCh37	20	58476764	58476764	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	16	16	.	.	ENST00000357552.3:c.1135G>T	p.Glu379Ter	p.E379*	ENST00000357552		379	Gaa/Taa	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		32	0		HGNC	p.E379X		SYCP2		SNV							ENST00000446834	protein_coding	getma.org/?cm=var&var=hg19,20,58476764,C,A&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		E/*		A	NA	1361/5567		NA		A2A341_HUMAN			YES	SYCP2,stop_gained,p.Glu379Ter,ENST00000357552,;SYCP2,stop_gained,p.Glu379Ter,ENST00000371001,NM_014258.2;SYCP2,stop_gained,p.Glu379Ter,ENST00000446834,;SYCP2,non_coding_transcript_exon_variant,,ENST00000461538,;							HIGH	1135/4593	E379*	SYCP2_HUMAN			Transcript			.	ENSP00000350162		CCDS13482.1			1	
SCAF8	0	LGGM	GRCh37	6	155113988	155113988	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	24	16	.	.	ENST00000367178.3:c.353A>T	p.Gln118Leu	p.Q118L	ENST00000367178	NM_014892.3	118	cAg/cTg	0	1	1	UPI0000070A1C	0	getma.org/pdb.php?prot=SCAF8_HUMAN&from=59&to=124&var=Q118L	ENST00000367178		ENSG00000213079	20959		40	2.185		HGNC	p.Q118L		SCAF8		SNV							ENST00000367178	protein_coding	getma.org/?cm=var&var=hg19,6,155113988,A,T&fts=all		PROSITE_profiles:PS51391,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124,Gene3D:1.25.40.90,Pfam_domain:PF04818,SMART_domains:SM00582,Superfamily_domains:SSF48464		Q/L		T	medium	929/5055		getma.org/?cm=msa&ty=f&p=SCAF8_HUMAN&rb=59&re=124&var=Q118L	deleterious(0.01)	Q9H8B2_HUMAN,Q8NDE9_HUMAN			YES	SCAF8,missense_variant,p.Gln118Leu,ENST00000367178,NM_014892.3,NM_001286194.1;SCAF8,missense_variant,p.Gln118Leu,ENST00000417268,NM_001286188.1,NM_001286199.1;SCAF8,missense_variant,p.Gln184Leu,ENST00000367186,NM_001286189.1;SCAF8,non_coding_transcript_exon_variant,,ENST00000461219,;SCAF8,non_coding_transcript_exon_variant,,ENST00000464628,;							MODERATE	353/3816	Q118L	SCAF8_HUMAN			Transcript		unknown(0)	.	ENSP00000356146		CCDS5247.1			1	
CEP41	0	LGGM	GRCh37	7	130039927	130039927	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	44	17	.	.	ENST00000223208.5:c.926A>T	p.Lys309Met	p.K309M	ENST00000223208	NM_018718.2	309	aAg/aTg	0	1	1	UPI000006D546	0	NA	ENST00000223208		ENSG00000106477	12370		61	1.78		HGNC	p.K309M		CEP41		SNV			1				ENST00000223208	protein_coding	getma.org/?cm=var&var=hg19,7,130039927,T,A&fts=all		hmmpanther:PTHR13253,hmmpanther:PTHR13253:SF53		K/M		A	low	1197/6513		getma.org/?cm=msa&ty=f&p=CEP41_HUMAN&rb=261&re=373&var=K309M	deleterious(0.02)	C9JXA0_HUMAN,C9J9X8_HUMAN,C9J6R3_HUMAN,C9IZ34_HUMAN			YES	CEP41,missense_variant,p.Lys309Met,ENST00000223208,NM_018718.2,NM_001257158.1;CEP41,intron_variant,,ENST00000541543,NM_001257159.1;CEP41,intron_variant,,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,;CEP41,downstream_gene_variant,,ENST00000471201,;							MODERATE	926/1122	K309M	CEP41_HUMAN			Transcript		benign(0.118)	.	ENSP00000223208		CCDS5821.1			1	
COL11A1	0	LGGM	GRCh37	1	103491862	103491862	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	17	.	.	ENST00000370096.3:c.807T>C	p.Tyr269=	p.Y269=	ENST00000370096	NM_001854.3	269	taT/taC	0	1	1	UPI00002053EF	0		ENST00000370096		ENSG00000060718	2186		38			HGNC	p.Y269Y		COL11A1		SNV			1				ENST00000370096	protein_coding			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg		Y		G		1120/7286				Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,synonymous_variant,p.=,ENST00000370096,NM_001854.3;COL11A1,synonymous_variant,p.=,ENST00000512756,NM_080630.3;COL11A1,intron_variant,,ENST00000358392,NM_080629.2;COL11A1,intron_variant,,ENST00000353414,NM_001190709.1;COL11A1,intron_variant,,ENST00000427239,;COL11A1,downstream_gene_variant,,ENST00000447608,;							LOW	807/5421		COBA1_HUMAN			Transcript			.	ENSP00000359114		CCDS778.1			1	
BLZF1	0	LGGM	GRCh37	1	169347572	169347572	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	36	18	.	.	ENST00000367808.3:c.473A>C	p.Asn158Thr	p.N158T	ENST00000367808		158	aAt/aCt	0	1		UPI000003B44E	0	NA	ENST00000329281		ENSG00000117475	1065		54	1.79		HGNC	p.N158T		BLZF1		SNV							ENST00000329281	protein_coding	getma.org/?cm=var&var=hg19,1,169347572,A,C&fts=all		hmmpanther:PTHR13066		N/T		C	low	896/2300		getma.org/?cm=msa&ty=f&p=GO45_HUMAN&rb=1&re=180&var=N158T	deleterious(0)	Q5T534_HUMAN,Q5T532_HUMAN				BLZF1,missense_variant,p.Asn158Thr,ENST00000367808,;BLZF1,missense_variant,p.Asn158Thr,ENST00000329281,NM_003666.2;BLZF1,missense_variant,p.Asn158Thr,ENST00000426663,;BLZF1,downstream_gene_variant,,ENST00000367807,;BLZF1,downstream_gene_variant,,ENST00000420531,;							MODERATE	473/1203	N158T	GO45_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000327541		CCDS1278.1			1	
MYO5C	0	LGGM	GRCh37	15	52548838	52548838	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	28	18	.	.	ENST00000261839.7:c.1393A>G	p.Met465Val	p.M465V	ENST00000261839	NM_018728.3	465	Atg/Gtg	0	1	1	UPI000013D20E	0	getma.org/pdb.php?prot=MYO5C_HUMAN&from=69&to=741&var=M465V	ENST00000261839		ENSG00000128833	7604		46	1.15		HGNC	p.M465V	rs748415168	MYO5C		SNV							ENST00000261839	protein_coding	getma.org/?cm=var&var=hg19,15,52548838,T,C&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		M/V		C	low	1555/6971	1.50E-05	getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=69&re=741&var=M465V	tolerated(0.06)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Met465Val,ENST00000261839,NM_018728.3;MYO5C,splice_region_variant,,ENST00000443683,;MYO5C,downstream_gene_variant,,ENST00000541028,;MYO5C,splice_region_variant,,ENST00000560809,;MYO5C,splice_region_variant,,ENST00000558902,;MYO5C,splice_region_variant,,ENST00000559459,;MYO5C,splice_region_variant,,ENST00000558242,;							MODERATE	1393/5229	M465V	MYO5C_HUMAN			Transcript		benign(0)	.	ENSP00000261839	8.28E-06	CCDS42036.1			1	
BDP1	0	LGGM	GRCh37	5	70762029	70762029	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	15	18	.	.	ENST00000358731.4:c.766A>G	p.Ile256Val	p.I256V	ENST00000358731	NM_018429.2	256	Att/Gtt	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		33	2.81		HGNC	p.I256V		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70762029,A,G&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		I/V		G	medium	1029/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=201&re=375&var=I256V	deleterious(0.01)				YES	BDP1,missense_variant,p.Ile256Val,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;							MODERATE	766/7875	I256V	BDP1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000351575		CCDS43328.1			1	
MSH6	0	LGGM	GRCh37	2	48027743	48027743	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	31	18	.	.	ENST00000234420.5:c.2621T>A	p.Ile874Asn	p.I874N	ENST00000234420	NM_000179.2	874	aTc/aAc	0	1	1	UPI00000405F8	0	getma.org/pdb.php?prot=MSH6_HUMAN&from=737&to=1065&var=I874N	ENST00000234420		ENSG00000116062	7329		49	1.455		HGNC	p.I874N		MSH6		SNV			1				ENST00000234420	protein_coding	getma.org/?cm=var&var=hg19,2,48027743,T,A&fts=all		hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,Pfam_domain:PF05192,Gene3D:1.10.1420.10,SMART_domains:SM00533,PIRSF_domain:PIRSF037677,Superfamily_domains:SSF48334		I/N		A	low	2773/7476		getma.org/?cm=msa&ty=f&p=MSH6_HUMAN&rb=737&re=1065&var=I874N	tolerated(0.23)	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN			YES	MSH6,missense_variant,p.Ile874Asn,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Ile572Asn,ENST00000538136,NM_001281494.1;MSH6,missense_variant,p.Ile744Asn,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,;							MODERATE	2621/4083	I874N	MSH6_HUMAN			Transcript		benign(0.305)	.	ENSP00000234420		CCDS1836.1			1	
DNAH3	0	LGGM	GRCh37	16	21062992	21062992	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	9	19	.	.	ENST00000261383.3:c.4237A>C	p.Arg1413=	p.R1413=	ENST00000261383	NM_017539.1	1413	Agg/Cgg	0	1	1	UPI00001100F2	0		ENST00000261383		ENSG00000158486	2949		28			HGNC	p.R1413R		DNAH3		SNV							ENST00000415178	protein_coding			Pfam_domain:PF12774,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242,Superfamily_domains:SSF52540		R		G		4237/12394							YES	DNAH3,splice_region_variant,p.=,ENST00000261383,NM_017539.1;DNAH3,splice_region_variant,p.=,ENST00000415178,;DNAH3,splice_region_variant,,ENST00000572640,;							LOW	4237/12351		DYH3_HUMAN			Transcript			.	ENSP00000261383		CCDS10594.1			1	
MS4A6E	0	LGGM	GRCh37	11	60105234	60105234	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	50	19	.	.	ENST00000300182.4:c.168A>T	p.Gly56=	p.G56=	ENST00000300182	NM_139249.2	56	ggA/ggT	0	1	1	UPI0000073D4C	0		ENST00000300182		ENSG00000166926	14285		69			HGNC	p.G31G		MS4A6E		SNV							ENST00000532756	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320,Pfam_domain:PF04103		G		T		233/711				H0YD45_HUMAN			YES	MS4A6E,synonymous_variant,p.=,ENST00000300182,NM_139249.2;MS4A6E,synonymous_variant,p.=,ENST00000532756,;MS4A6E,3_prime_UTR_variant,,ENST00000530509,;							LOW	168/444		M4A6E_HUMAN			Transcript			.	ENSP00000300182		CCDS7984.1			1	
DNAJB6	0	LGGM	GRCh37	7	157178313	157178313	+	splice_region_variant,intron_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	161	20	.	.	ENST00000262177.4:c.691+8G>A		p.X231_splice	ENST00000262177	NM_058246.3			0	1	1	UPI0000129436	0		ENST00000262177		ENSG00000105993	14888		181			HGNC	p.E233E		DNAJB6		SNV			1				ENST00000429029	protein_coding							A		-/2527				Q75MP3_HUMAN,C9JN01_HUMAN,C9JDX6_HUMAN,C9JDR7_HUMAN,C9JB42_HUMAN,C9J2P2_HUMAN,C9J2C4_HUMAN			YES	DNAJB6,splice_region_variant,,ENST00000262177,NM_058246.3;DNAJB6,splice_region_variant,,ENST00000452797,;DNAJB6,synonymous_variant,p.=,ENST00000429029,NM_005494.2;DNAJB6,intron_variant,,ENST00000443280,;DNAJB6,downstream_gene_variant,,ENST00000441561,;DNAJB6,downstream_gene_variant,,ENST00000417758,;DNAJB6,downstream_gene_variant,,ENST00000412557,;DNAJB6,splice_region_variant,,ENST00000465908,;DNAJB6,splice_region_variant,,ENST00000459889,;DNAJB6,non_coding_transcript_exon_variant,,ENST00000487480,;DNAJB6,downstream_gene_variant,,ENST00000468928,;DNAJB6,downstream_gene_variant,,ENST00000486247,;DNAJB6,downstream_gene_variant,,ENST00000441291,;							LOW	-/981		DNJB6_HUMAN			Transcript			.	ENSP00000262177		CCDS5946.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20183108	20183108	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	12	21	.	.	ENST00000379565.3:c.1673G>C	p.Arg558Pro	p.R558P	ENST00000379565	NM_004586.2	558	cGa/cCa	0	1	1	UPI000012DB2E	0	getma.org/pdb.php?prot=KS6A3_HUMAN&from=422&to=679&var=R558P	ENST00000379565		ENSG00000177189	10432		33	2.055		HGNC	p.R530P		RPS6KA3		SNV			1				ENST00000544447	protein_coding	getma.org/?cm=var&var=hg19,X,20183108,C,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		R/P		G	medium	1881/7918		getma.org/?cm=msa&ty=f&p=KS6A3_HUMAN&rb=422&re=679&var=R558P	deleterious(0)	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,missense_variant,p.Arg558Pro,ENST00000379565,NM_004586.2;RPS6KA3,missense_variant,p.Arg530Pro,ENST00000544447,;RPS6KA3,missense_variant,p.Arg529Pro,ENST00000540702,;RPS6KA3,missense_variant,p.Arg528Pro,ENST00000379548,;RPS6KA3,intron_variant,,ENST00000479809,;							MODERATE	1673/2223	R558P	KS6A3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000368884		CCDS14197.1			1	
MTRF1	0	LGGM	GRCh37	13	41800606	41800606	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	17	23	.	.	ENST00000379480.4:c.1087A>G	p.Lys363Glu	p.K363E	ENST00000379480	NM_004294.2	363	Aaa/Gaa	0	1		UPI0000035FC6	0	getma.org/pdb.php?prot=RF1M_HUMAN&from=286&to=399&var=K363E	ENST00000379477		ENSG00000120662	7469		40	0.135		HGNC	p.K363E		MTRF1		SNV							ENST00000379477	protein_coding	getma.org/?cm=var&var=hg19,13,41800606,T,C&fts=all		Gene3D:3.30.160.20,Pfam_domain:PF00472,hmmpanther:PTHR11075,hmmpanther:PTHR11075:SF44,Superfamily_domains:SSF75620		K/E		C	neutral	1557/1948		getma.org/?cm=msa&ty=f&p=RF1M_HUMAN&rb=286&re=399&var=K363E	tolerated(0.85)					MTRF1,missense_variant,p.Lys363Glu,ENST00000379480,NM_004294.2;MTRF1,missense_variant,p.Lys363Glu,ENST00000379477,;MTRF1,missense_variant,p.Lys376Glu,ENST00000430347,;MTRF1,non_coding_transcript_exon_variant,,ENST00000473492,;							MODERATE	1087/1338	K363E	RF1M_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000368790		CCDS9378.1			1	
CDH12	0	LGGM	GRCh37	5	21854860	21854860	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	22	23	.	.	ENST00000382254.1:c.566A>T	p.Asp189Val	p.D189V	ENST00000382254	NM_004061.3	189	gAc/gTc	0	1	1	UPI00000622EB	0	getma.org/pdb.php?prot=CAD12_HUMAN&from=165&to=260&var=D189V	ENST00000382254		ENSG00000154162	1751		45	1.5		HGNC	p.D189V		CDH12		SNV							ENST00000382254	protein_coding	getma.org/?cm=var&var=hg19,5,21854860,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/V		A	low	1653/4164		getma.org/?cm=msa&ty=f&p=CAD12_HUMAN&rb=165&re=260&var=D189V	deleterious(0)	B3KRT0_HUMAN			YES	CDH12,missense_variant,p.Asp189Val,ENST00000382254,NM_004061.3;CDH12,missense_variant,p.Asp189Val,ENST00000504376,;CDH12,intron_variant,,ENST00000522262,;CDH12,non_coding_transcript_exon_variant,,ENST00000521384,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;							MODERATE	566/2385	D189V	CAD12_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000371689		CCDS3890.1			1	
GAPDHS	0	LGGM	GRCh37	19	36034302	36034302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	41	23	.	.	ENST00000222286.4:c.802T>A	p.Trp268Arg	p.W268R	ENST00000222286	NM_014364.4	268	Tgg/Agg	0	1	1	UPI000012AE83	0	getma.org/pdb.php?prot=G3PT_HUMAN&from=229&to=386&var=W268R	ENST00000222286		ENSG00000105679	24864		64	3.335		HGNC	p.W268R	rs765074372	GAPDHS		SNV							ENST00000222286	protein_coding	getma.org/?cm=var&var=hg19,19,36034302,T,A&fts=all		Gene3D:3.30.360.10,Pfam_domain:PF02800,PIRSF_domain:PIRSF000149,hmmpanther:PTHR10836,hmmpanther:PTHR10836:SF26,Superfamily_domains:SSF55347,TIGRFAM_domain:TIGR01534		W/R		A	medium	918/1489	1.50E-05	getma.org/?cm=msa&ty=f&p=G3PT_HUMAN&rb=229&re=386&var=W268R	deleterious_low_confidence(0)	K7EP73_HUMAN			YES	GAPDHS,missense_variant,p.Trp268Arg,ENST00000222286,NM_014364.4;TMEM147,upstream_gene_variant,,ENST00000392204,NM_001242597.1;TMEM147,upstream_gene_variant,,ENST00000222284,NM_032635.3;TMEM147,upstream_gene_variant,,ENST00000392205,;GAPDHS,downstream_gene_variant,,ENST00000585510,;AD000090.2,non_coding_transcript_exon_variant,,ENST00000588286,;AD000090.2,non_coding_transcript_exon_variant,,ENST00000590717,;AD000090.2,intron_variant,,ENST00000589137,;AD000090.2,intron_variant,,ENST00000444728,;AD000090.2,upstream_gene_variant,,ENST00000590125,;TMEM147,upstream_gene_variant,,ENST00000595467,;TMEM147,upstream_gene_variant,,ENST00000599895,;TMEM147,upstream_gene_variant,,ENST00000477168,;TMEM147,upstream_gene_variant,,ENST00000593027,NM_001242598.1;GAPDHS,downstream_gene_variant,,ENST00000586334,;TMEM147,upstream_gene_variant,,ENST00000596232,;TMEM147,upstream_gene_variant,,ENST00000595180,;							MODERATE	802/1227	W268R	G3PT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000222286	8.24E-06	CCDS12465.1			1	
PRUNE2	0	LGGM	GRCh37	9	79239366	79239366	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	56	24	.	.	ENST00000376718.3:c.9188+2T>A		p.X3063_splice	ENST00000376718	NM_015225.2			0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		80			HGNC	-		PRUNE2		SNV							ENST00000376717	protein_coding							T		-/12584							YES	PRUNE2,splice_donor_variant,,ENST00000428286,;PRUNE2,splice_donor_variant,,ENST00000376718,NM_015225.2;PRUNE2,splice_donor_variant,,ENST00000376717,;PRUNE2,splice_donor_variant,,ENST00000443509,;PRUNE2,intron_variant,,ENST00000426088,;PRUNE2,intron_variant,,ENST00000223609,;PRUNE2,intron_variant,,ENST00000424866,;PRUNE2,intron_variant,,ENST00000466266,;							HIGH	9188/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
DEFB4A	0	LGGM	GRCh37	8	7752244	7752244	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	14	24	.	.	ENST00000302247.2:c.10T>C	p.Leu4=	p.L4=	ENST00000302247	NM_004942.2	4	Ttg/Ctg	0	1	1	UPI0000126863	0		ENST00000302247		ENSG00000171711	2767		38			HGNC	p.L4L		DEFB4A		SNV							ENST00000302247	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR20515,hmmpanther:PTHR20515:SF2		L		C		94/380							YES	DEFB4A,synonymous_variant,p.=,ENST00000302247,NM_004942.2;HSPD1P2,upstream_gene_variant,,ENST00000530524,;							LOW	10/195		DFB4A_HUMAN			Transcript			.	ENSP00000303532		CCDS5971.1			1	
CADPS	0	LGGM	GRCh37	3	62522121	62522121	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	34	24	.	.	ENST00000383710.4:c.2102T>A	p.Leu701Gln	p.L701Q	ENST00000383710	NM_003716.3	701	cTg/cAg	0	1	1	UPI00001C036A	0	NA	ENST00000383710		ENSG00000163618	1426		58	2.495		HGNC	p.L701Q		CADPS		SNV							ENST00000283269	protein_coding	getma.org/?cm=var&var=hg19,3,62522121,A,T&fts=all		hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166		L/Q		T	medium	2452/5471		getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=601&re=800&var=L701Q	deleterious(0)				YES	CADPS,missense_variant,p.Leu701Gln,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Leu701Gln,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Leu8Gln,ENST00000491424,;CADPS,missense_variant,p.Leu46Gln,ENST00000468271,;CADPS,missense_variant,p.Leu200Gln,ENST00000542833,;CADPS,missense_variant,p.Leu132Gln,ENST00000478434,;CADPS,intron_variant,,ENST00000357948,NM_183393.2;CADPS,non_coding_transcript_exon_variant,,ENST00000490424,;							MODERATE	2102/4062	L701Q	CAPS1_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000373215		CCDS46858.1			1	
ANO2	0	LGGM	GRCh37	12	5674793	5674793	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	47	24	.	.	ENST00000327087.8:c.2658C>A	p.Asn886Lys	p.N886K	ENST00000327087	NM_001278596.1	886	aaC/aaA	0	1		UPI00000715DF	0	NA	ENST00000356134		ENSG00000047617	1183		71	1.07		HGNC	p.N886K	COSM431515,COSM1476752	ANO2		SNV						1,1	ENST00000327087	protein_coding	getma.org/?cm=var&var=hg19,12,5674793,G,T&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20		N/K		T	low	2733/3717		getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=352&re=944&var=N891K	tolerated(0.3)	Q69YW4_HUMAN				ANO2,missense_variant,p.Asn886Lys,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,missense_variant,p.Asn887Lys,ENST00000546188,;ANO2,missense_variant,p.Asn887Lys,ENST00000356134,;ANO2,upstream_gene_variant,,ENST00000536751,;					1,1		MODERATE	2661/3000	N891K	ANO2_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000348453					1	
PTPRB	0	LGGM	GRCh37	12	70934660	70934660	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	49	24	.	.	ENST00000334414.6:c.5572T>A	p.Leu1858Met	p.L1858M	ENST00000334414	NM_001109754.2	1858	Ttg/Atg	0	1		UPI00001FC788	0	NA	ENST00000261266		ENSG00000127329	9665		73	1.355		HGNC	p.L1858M		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,70934660,A,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219		L/M		T	low	4948/6110		getma.org/?cm=msa&ty=f&p=PTPRB_HUMAN&rb=1636&re=1726&var=L1640M	deleterious(0.04)					PTPRB,missense_variant,p.Leu1858Met,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Leu1550Met,ENST00000451516,NM_001206971.1;PTPRB,missense_variant,p.Leu1770Met,ENST00000550358,;PTPRB,missense_variant,p.Leu1640Met,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Leu1550Met,ENST00000550857,;PTPRB,missense_variant,p.Leu1550Met,ENST00000538708,NM_001206972.1;RP11-588H23.3,downstream_gene_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;PTPRB,upstream_gene_variant,,ENST00000549400,;							MODERATE	4918/5994	L1640M	PTPRB_HUMAN			Transcript		possibly_damaging(0.498)	.	ENSP00000261266		CCDS44944.1			1	
NES	0	LGGM	GRCh37	1	156641001	156641001	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	153	25	.	.	ENST00000368223.3:c.2979G>C	p.Glu993Asp	p.E993D	ENST00000368223	NM_006617.1	993	gaG/gaC	0	1	1	UPI0000213DC0	0	NA	ENST00000368223		ENSG00000132688	7756		178	1.955		HGNC	p.E993D		NES		SNV							ENST00000368223	protein_coding	getma.org/?cm=var&var=hg19,1,156641001,C,G&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF131		E/D		G	medium	3112/5558		getma.org/?cm=msa&ty=f&p=NEST_HUMAN&rb=871&re=1620&var=E993D	deleterious(0.03)	Q2YDX4_HUMAN			YES	NES,missense_variant,p.Glu993Asp,ENST00000368223,NM_006617.1;							MODERATE	2979/4866	E993D	NEST_HUMAN			Transcript		possibly_damaging(0.585)	.	ENSP00000357206		CCDS1151.1			1	
VWDE	0	LGGM	GRCh37	7	12409824	12409824	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	27	26	.	.	ENST00000275358.3:c.2108A>G	p.Asn703Ser	p.N703S	ENST00000275358	NM_001135924.1	703	aAc/aGc	0	1	1	UPI00006C0B98	0	NA	ENST00000275358		ENSG00000146530	21897		53	1.245		HGNC	p.N703S		VWDE		SNV							ENST00000275358	protein_coding	getma.org/?cm=var&var=hg19,7,12409824,T,C&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67		N/S		C	low	2297/5260		getma.org/?cm=msa&ty=f&p=VWDE_HUMAN&rb=653&re=771&var=N703S	tolerated(0.22)				YES	VWDE,missense_variant,p.Asn703Ser,ENST00000275358,NM_001135924.1;VWDE,missense_variant,p.Asn703Ser,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;							MODERATE	2108/4773	N703S	VWDE_HUMAN			Transcript		benign(0.012)	.	ENSP00000275358		CCDS47544.1			1	
NHS	0	LGGM	GRCh37	X	17746792	17746792	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	12	26	.	.	ENST00000380060.3:c.4183A>G	p.Ile1395Val	p.I1395V	ENST00000380060	NM_198270.2	1395	Atc/Gtc	0	1	1	UPI00001DFBF3	0	NA	ENST00000380060		ENSG00000188158	7820		38	0.84		HGNC	p.I1395V		NHS		SNV			1				ENST00000380060	protein_coding	getma.org/?cm=var&var=hg19,X,17746792,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23039:SF5,hmmpanther:PTHR23039		I/V		G	low	4521/8761		getma.org/?cm=msa&ty=f&p=NHS_HUMAN&rb=119&re=1628&var=I1395V	tolerated(0.49)				YES	NHS,missense_variant,p.Ile1395Val,ENST00000380060,NM_198270.2;NHS,missense_variant,p.Ile1239Val,ENST00000398097,NM_001136024.2;NHS,downstream_gene_variant,,ENST00000485305,;							MODERATE	4183/4893	I1395V	NHS_HUMAN			Transcript		benign(0.002)	.	ENSP00000369400		CCDS14181.1			1	
TTK	0	LGGM	GRCh37	6	80736141	80736141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	38	27	.	.	ENST00000369798.2:c.1304A>T	p.Gln435Leu	p.Q435L	ENST00000369798	NM_003318.4	435	cAg/cTg	0	1	1	UPI0000073C7B	0	NA	ENST00000369798		ENSG00000112742	12401		65	1.245		HGNC	p.Q434L		TTK		SNV							ENST00000509894	protein_coding	getma.org/?cm=var&var=hg19,6,80736141,A,T&fts=all		hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974		Q/L		T	low	1415/3010		getma.org/?cm=msa&ty=f&p=TTK_HUMAN&rb=181&re=508&var=Q435L	tolerated(0.31)	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN			YES	TTK,missense_variant,p.Gln434Leu,ENST00000509894,;TTK,missense_variant,p.Gln434Leu,ENST00000230510,;TTK,missense_variant,p.Gln435Leu,ENST00000369798,NM_003318.4,NM_001166691.1;TTK,non_coding_transcript_exon_variant,,ENST00000515751,;							MODERATE	1304/2574	Q435L	TTK_HUMAN			Transcript		benign(0.094)	.	ENSP00000358813		CCDS4993.1			1	
PCDHGA10	0	LGGM	GRCh37	5	140794199	140794199	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	54	27	.	.	ENST00000398610.2:c.1457A>T	p.Lys486Ile	p.K486I	ENST00000398610	NM_018913.2	486	aAa/aTa	0	1	1	UPI00000726C3	0	getma.org/pdb.php?prot=PCDGA_HUMAN&from=461&to=557&var=K486I	ENST00000398610		ENSG00000253846	8697		81	0.645		HGNC	p.K486I		PCDHGA10		SNV							ENST00000398610	protein_coding	getma.org/?cm=var&var=hg19,5,140794199,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF110,SMART_domains:SM00112,Superfamily_domains:SSF49313		K/I		T	neutral	1457/4617		getma.org/?cm=msa&ty=f&p=PCDGA_HUMAN&rb=461&re=557&var=K486I	tolerated_low_confidence(0.19)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA10,missense_variant,p.Lys486Ile,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;							MODERATE	1457/2811	K486I	PCDGA_HUMAN			Transcript		benign(0.029)	.	ENSP00000381611		CCDS47292.1			1	
LRRC40	0	LGGM	GRCh37	1	70614219	70614219	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	43	27	.	.	ENST00000370952.3:c.1654A>T	p.Asn552Tyr	p.N552Y	ENST00000370952	NM_017768.4	552	Aat/Tat	0	1	1	UPI000004A0A0	0	NA	ENST00000370952		ENSG00000066557	26004		70	3.69		HGNC	p.N552Y		LRRC40		SNV							ENST00000370952	protein_coding	getma.org/?cm=var&var=hg19,1,70614219,T,A&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF13855,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF424,hmmpanther:PTHR23155,PROSITE_profiles:PS51450,Low_complexity_(Seg):seg		N/Y		A	high	1734/2884		getma.org/?cm=msa&ty=f&p=LRC40_HUMAN&rb=542&re=578&var=N552Y	deleterious(0)				YES	LRRC40,missense_variant,p.Asn552Tyr,ENST00000370952,NM_017768.4;LRRC7,intron_variant,,ENST00000441830,;LRRC7,downstream_gene_variant,,ENST00000565615,;LRRC7,downstream_gene_variant,,ENST00000609072,;LRRC7,downstream_gene_variant,,ENST00000607936,;LRRC7,downstream_gene_variant,,ENST00000608744,;LRRC7,downstream_gene_variant,,ENST00000588515,;							MODERATE	1654/1809	N552Y	LRC40_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359990		CCDS646.1			1	
PRPF18	0	LGGM	GRCh37	10	13658411	13658411	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	25	27	.	.	ENST00000378572.3:c.806A>G	p.Tyr269Cys	p.Y269C	ENST00000378572	NM_003675.3	269	tAt/tGt	0	1	1	UPI0000070C82	0	getma.org/pdb.php?prot=PRP18_HUMAN&from=188&to=332&var=Y269C	ENST00000378572		ENSG00000165630	17351		52	3.68		HGNC	p.Y31C		PRPF18		SNV							ENST00000430832	protein_coding	getma.org/?cm=var&var=hg19,10,13658411,A,G&fts=all		Superfamily_domains:0036629,Pfam_domain:PF02840,Gene3D:1dvkA00,hmmpanther:PTHR13007:SF19,hmmpanther:PTHR13007		Y/C		G	high	966/1717		getma.org/?cm=msa&ty=f&p=PRP18_HUMAN&rb=188&re=332&var=Y269C	deleterious(0)	M0QXX3_HUMAN			YES	PRPF18,missense_variant,p.Tyr269Cys,ENST00000378572,NM_003675.3;RP11-295P9.3,missense_variant,p.Tyr146Cys,ENST00000601460,;PRPF18,downstream_gene_variant,,ENST00000417658,;PRPF18,downstream_gene_variant,,ENST00000320054,;RP11-295P9.3,upstream_gene_variant,,ENST00000595538,;							MODERATE	806/1029	Y269C	PRP18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367835		CCDS7100.1			1	
EYS	0	LGGM	GRCh37	6	66115188	66115188	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	57	30	.	.	ENST00000503581.1:c.935G>T	p.Ser312Ile	p.S312I	ENST00000503581	NM_001142800.1	312	aGc/aTc	0	1		UPI0001AE72B3	0	getma.org/pdb.php?prot=EYS_HUMAN&from=253&to=452&var=S312I	ENST00000370616		ENSG00000188107	21555		87	0.515		HGNC	p.S312I		EYS		SNV			1				ENST00000342421	protein_coding	getma.org/?cm=var&var=hg19,6,66115188,C,A&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		S/I		A	neutral	935/9498		getma.org/?cm=msa&ty=f&p=EYS_HUMAN&rb=253&re=452&var=S312I	tolerated(0.17)					EYS,missense_variant,p.Ser312Ile,ENST00000503581,NM_001142800.1;EYS,missense_variant,p.Ser312Ile,ENST00000370621,;EYS,missense_variant,p.Ser312Ile,ENST00000370616,;EYS,missense_variant,p.Ser312Ile,ENST00000393380,NM_001142801.1;EYS,missense_variant,p.Ser312Ile,ENST00000370618,;EYS,missense_variant,p.Ser312Ile,ENST00000342421,NM_198283.1;							MODERATE	935/9498	S312I	EYS_HUMAN			Transcript		benign(0)	.	ENSP00000359650					1	
PCDHGA6	0	LGGM	GRCh37	5	140755506	140755506	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	35	30	.	.	ENST00000517434.1:c.1856T>A	p.Val619Glu	p.V619E	ENST00000517434	NM_018919.2	619	gTg/gAg	0	1	1	UPI00000715C8	0	getma.org/pdb.php?prot=PCDG6_HUMAN&from=578&to=665&var=V619E	ENST00000517434		ENSG00000253731	8704		65	3.565		HGNC	p.V619E		PCDHGA6		SNV							ENST00000517434	protein_coding	getma.org/?cm=var&var=hg19,5,140755506,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF107,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/E		A	high	1856/4605		getma.org/?cm=msa&ty=f&p=PCDG6_HUMAN&rb=578&re=665&var=V619E	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA6,missense_variant,p.Val619Glu,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;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;							MODERATE	1856/2799	V619E	PCDG6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000429601		CCDS54926.1			1	
SENP6	0	LGGM	GRCh37	6	76376562	76376562	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	52	31	.	.	ENST00000447266.2:c.1129A>C	p.Asn377His	p.N377H	ENST00000447266	NM_015571.2	377	Aat/Cat	0	1	1	UPI0000141B65	0	NA	ENST00000447266		ENSG00000112701	20944		83	1.935		HGNC	p.N370H		SENP6		SNV							ENST00000327284	protein_coding	getma.org/?cm=var&var=hg19,6,76376562,A,C&fts=all		hmmpanther:PTHR12438,hmmpanther:PTHR12438:SF14		N/H		C	medium	1607/6501		getma.org/?cm=msa&ty=f&p=SENP6_HUMAN&rb=263&re=599&var=N377H	deleterious(0)	H0Y4F4_HUMAN			YES	SENP6,missense_variant,p.Asn377His,ENST00000370014,NM_001100409.1;SENP6,missense_variant,p.Asn377His,ENST00000447266,NM_015571.2;SENP6,missense_variant,p.Asn370His,ENST00000370010,;SENP6,missense_variant,p.Asn370His,ENST00000327284,;SENP6,missense_variant,p.Asn267His,ENST00000424947,;SENP6,upstream_gene_variant,,ENST00000541192,;SENP6,downstream_gene_variant,,ENST00000483859,;SENP6,downstream_gene_variant,,ENST00000436928,;SENP6,upstream_gene_variant,,ENST00000503501,;SENP6,downstream_gene_variant,,ENST00000485497,;							MODERATE	1129/3339	N377H	SENP6_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000402527		CCDS47454.1			1	
SLC40A1	0	LGGM	GRCh37	2	190440043	190440043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	32	.	.	ENST00000261024.2:c.115G>T	p.Asp39Tyr	p.D39Y	ENST00000261024	NM_014585.5	39	Gat/Tat	0	1	1	UPI0000034CC2	0	NA	ENST00000261024		ENSG00000138449	10909		53	2.455		HGNC	p.D39Y		SLC40A1		SNV			1				ENST00000261024	protein_coding	getma.org/?cm=var&var=hg19,2,190440043,C,A&fts=all		Pfam_domain:PF06963,hmmpanther:PTHR11660,hmmpanther:PTHR11660:SF47,Superfamily_domains:SSF103473		D/Y		A	medium	542/3442		getma.org/?cm=msa&ty=f&p=S40A1_HUMAN&rb=22&re=531&var=D39Y	deleterious(0.05)	Q4PNE6_HUMAN,E7ES28_HUMAN,E7EQF8_HUMAN			YES	SLC40A1,missense_variant,p.Asp39Tyr,ENST00000261024,NM_014585.5;SLC40A1,missense_variant,p.Asp39Tyr,ENST00000427241,;SLC40A1,missense_variant,p.Asp39Tyr,ENST00000455320,;SLC40A1,downstream_gene_variant,,ENST00000427419,;SLC40A1,downstream_gene_variant,,ENST00000440626,;SLC40A1,non_coding_transcript_exon_variant,,ENST00000418714,;SLC40A1,non_coding_transcript_exon_variant,,ENST00000479598,;							MODERATE	115/1716	D39Y	S40A1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000261024		CCDS2299.1			1	
LCE1F	0	LGGM	GRCh37	1	152748965	152748965	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	39	33	.	.	ENST00000334371.2:c.118G>A	p.Val40Ile	p.V40I	ENST00000334371	NM_178354.2	40	Gtc/Atc	0	1	1	UPI0000192764	0	NA	ENST00000334371		ENSG00000240386	29467		72	0		HGNC	p.V40I		LCE1F		SNV							ENST00000334371	protein_coding	getma.org/?cm=var&var=hg19,1,152748965,G,A&fts=all		Pfam_domain:PF14672,Prints_domain:PR00021,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Low_complexity_(Seg):seg		V/I		A	neutral	118/598		getma.org/?cm=msa&ty=f&p=LCE1F_HUMAN&rb=1&re=116&var=V40I	tolerated_low_confidence(0.31)				YES	LCE1F,missense_variant,p.Val40Ile,ENST00000334371,NM_178354.2;							MODERATE	118/357	V40I	LCE1F_HUMAN			Transcript		unknown(0)	.	ENSP00000334187		CCDS1023.1			1	
FAM91A1	0	LGGM	GRCh37	8	124824941	124824941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	18	33	.	.	ENST00000334705.7:c.2514A>T	p.Gln838His	p.Q838H	ENST00000334705	NM_144963.2	838	caA/caT	0	1	1	UPI0000E5AF4E	0	NA	ENST00000334705		ENSG00000176853	26306		51	0		HGNC	p.Q838H		FAM91A1		SNV							ENST00000334705	protein_coding	getma.org/?cm=var&var=hg19,8,124824941,A,T&fts=all				Q/H		T	neutral	2760/5511		getma.org/?cm=msa&ty=f&p=F91A1_HUMAN&rb=807&re=838&var=Q838H	deleterious_low_confidence(0)	H0YC80_HUMAN			YES	FAM91A1,missense_variant,p.Gln838His,ENST00000334705,NM_144963.2;FAM91A1,downstream_gene_variant,,ENST00000521166,;FAM91A1,3_prime_UTR_variant,,ENST00000519721,;FAM91A1,3_prime_UTR_variant,,ENST00000518976,;FAM91A1,non_coding_transcript_exon_variant,,ENST00000518333,;FAM91A1,downstream_gene_variant,,ENST00000520246,;							MODERATE	2514/2517	Q838H	F91A1_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000335082		CCDS6346.2			1	
MORC4	0	LGGM	GRCh37	X	106185783	106185783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	21	33	.	.	ENST00000355610.4:c.2338G>A	p.Glu780Lys	p.E780K	ENST00000355610	NM_001085354.2	780	Gaa/Aaa	0	1	1	UPI00003E75D3	0	NA	ENST00000355610		ENSG00000133131	23485		54	1.43		HGNC	p.E780K		MORC4		SNV							ENST00000255495	protein_coding	getma.org/?cm=var&var=hg19,X,106185783,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1,Low_complexity_(Seg):seg		E/K		T	low	2613/3834		getma.org/?cm=msa&ty=f&p=MORC4_HUMAN&rb=553&re=935&var=E780K	tolerated(0.4)				YES	MORC4,missense_variant,p.Glu780Lys,ENST00000355610,NM_001085354.2,NM_024657.4;MORC4,missense_variant,p.Glu528Lys,ENST00000535534,;MORC4,missense_variant,p.Glu780Lys,ENST00000255495,;MORC4,intron_variant,,ENST00000604604,;MORC4,non_coding_transcript_exon_variant,,ENST00000478924,;							MODERATE	2338/2814	E780K	MORC4_HUMAN			Transcript		benign(0.103)	.	ENSP00000347821		CCDS14525.2			1	
ADAM22	0	LGGM	GRCh37	7	87810886	87810886	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	79	33	.	.	ENST00000265727.7:c.2475T>A	p.Cys825Ter	p.C825*	ENST00000265727		825	tgT/tgA	0	1	1	UPI00001254DC	0	NA	ENST00000265727		ENSG00000008277	201		112	0		HGNC	p.C825X		ADAM22		SNV							ENST00000265727	protein_coding	getma.org/?cm=var&var=hg19,7,87810886,T,A&fts=all		hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905		C/*		A	NA	2554/2891		NA		Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN			YES	ADAM22,stop_gained,p.Cys789Ter,ENST00000398204,NM_021723.3,NM_016351.4;ADAM22,stop_gained,p.Cys789Ter,ENST00000398209,NM_021722.4;ADAM22,stop_gained,p.Cys789Ter,ENST00000315984,;ADAM22,stop_gained,p.Cys825Ter,ENST00000265727,;ADAM22,stop_gained,p.Cys825Ter,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,stop_gained,p.Cys792Ter,ENST00000398203,;ADAM22,stop_gained,p.Cys183Ter,ENST00000426930,;ADAM22,stop_gained,p.Cys154Ter,ENST00000413139,;ADAM22,upstream_gene_variant,,ENST00000476330,;							HIGH	2475/2721	C825*	ADA22_HUMAN			Transcript			.	ENSP00000265727		CCDS47637.1			1	
NINL	0	LGGM	GRCh37	20	25436352	25436352	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	85	36	.	.	ENST00000278886.6:c.3914T>C	p.Met1305Thr	p.M1305T	ENST00000278886	NM_025176.4	1305	aTg/aCg	0	1	1	UPI0000206B64	0	NA	ENST00000278886		ENSG00000101004	29163		121	1.39		HGNC	p.M956T	rs749569068	NINL	6.06E-05	SNV							ENST00000422516	protein_coding	getma.org/?cm=var&var=hg19,20,25436352,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12		M/T		G	low	3988/4969		getma.org/?cm=msa&ty=f&p=NINL_HUMAN&rb=1265&re=1382&var=M1305T	tolerated(0.13)				YES	NINL,missense_variant,p.Met1305Thr,ENST00000278886,NM_025176.4;NINL,missense_variant,p.Met956Thr,ENST00000422516,;NINL,non_coding_transcript_exon_variant,,ENST00000464285,;NINL,non_coding_transcript_exon_variant,,ENST00000496509,;GINS1,downstream_gene_variant,,ENST00000481735,;							MODERATE	3914/4149	M1305T	NINL_HUMAN			Transcript		benign(0.036)	.	ENSP00000278886	8.24E-06	CCDS33452.1			1	
MUC12	0	LGGM	GRCh37	7	100636414	100636414	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091665	H091665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	164	42	.	.	ENST00000536621.1:c.2570G>A	p.Arg857Gln	p.R857Q	ENST00000536621	NM_001164462.1	857	cGa/cAa	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		206	0		HGNC	p.R857Q		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100636414,G,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9,Low_complexity_(Seg):seg		R/Q		A	neutral	2999/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=R1000Q						MUC12,missense_variant,p.Arg1000Gln,ENST00000379442,;MUC12,missense_variant,p.Arg857Gln,ENST00000536621,NM_001164462.1;							MODERATE	2999/16437	R1000Q	MUC12_HUMAN			Transcript		benign(0.234)	.	ENSP00000368755					1	
GPR52	0	LGGM	GRCh37	1	174417847	174417847	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	83	43	.	.	ENST00000367685.2:c.598A>G	p.Ser200Gly	p.S200G	ENST00000367685	NM_005684.4	200	Agt/Ggt	0	1	1	UPI0000153A3C	0	getma.org/pdb.php?prot=GPR52_HUMAN&from=57&to=317&var=S200G	ENST00000367685		ENSG00000203737	4508		126	0.805		HGNC	p.S200G		GPR52		SNV							ENST00000367685	protein_coding	getma.org/?cm=var&var=hg19,1,174417847,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF248,Superfamily_domains:SSF81321		S/G		G	low	636/1472		getma.org/?cm=msa&ty=f&p=GPR52_HUMAN&rb=57&re=317&var=S200G	tolerated(0.07)	F2YGU0_HUMAN			YES	GPR52,missense_variant,p.Ser200Gly,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,;							MODERATE	598/1086	S200G	GPR52_HUMAN			Transcript		benign(0.142)	.	ENSP00000356658		CCDS30941.1			1	
LILRB1	0	LGGM	GRCh37	19	55143062	55143062	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	42	47	.	.	ENST00000324602.7:c.182A>T	p.Tyr61Phe	p.Y61F	ENST00000324602	NM_001278399.1	61	tAt/tTt	0	1	1	UPI0000034BFC	0	getma.org/pdb.php?prot=LIRB1_HUMAN&from=28&to=118&var=Y61F	ENST00000324602		ENSG00000104972	6605		89	2.19		HGNC	p.Y61F		LILRB1		SNV							ENST00000448689	protein_coding	getma.org/?cm=var&var=hg19,19,55143062,A,T&fts=all		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		Y/F		T	medium	407/2834		getma.org/?cm=msa&ty=f&p=LIRB1_HUMAN&rb=28&re=118&var=Y61F	tolerated(0.62)				YES	LILRB1,missense_variant,p.Tyr61Phe,ENST00000396331,NM_006669.5;LILRB1,missense_variant,p.Tyr61Phe,ENST00000396327,NM_001081638.2,NM_001081639.2,NM_001278399.1;LILRB1,missense_variant,p.Tyr61Phe,ENST00000324602,NM_001278399.1;LILRB1,missense_variant,p.Tyr61Phe,ENST00000434867,;LILRB1,missense_variant,p.Tyr61Phe,ENST00000396332,NM_001081637.1,NM_001278398.1;LILRB1,missense_variant,p.Tyr97Phe,ENST00000427581,;LILRB1,missense_variant,p.Tyr61Phe,ENST00000396315,;LILRB1,missense_variant,p.Tyr61Phe,ENST00000396317,;LILRB1,missense_variant,p.Tyr61Phe,ENST00000396321,;LILRB1,missense_variant,p.Tyr61Phe,ENST00000418536,;LILRB1,missense_variant,p.Tyr61Phe,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,missense_variant,p.Tyr61Phe,ENST00000421584,;LILRB1,upstream_gene_variant,,ENST00000480375,;LILRB1,upstream_gene_variant,,ENST00000487425,;							MODERATE	182/1959	Y61F	LIRB1_HUMAN			Transcript		benign(0.058)	.	ENSP00000315997		CCDS42614.1			1	
TTN	0	LGGM	GRCh37	2	179486669	179486669	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	64	55	.	.	ENST00000589042.1:c.44980G>A	p.Ala14994Thr	p.A14994T	ENST00000589042	NM_001267550.1	14994	Gca/Aca	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=13301&to=13382&var=A13353T	ENST00000591111		ENSG00000155657	12403		119	-0.345		HGNC	p.A6054T		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179486669,C,T&fts=all		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		A/T		T	neutral	40282/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=13301&re=13382&var=A13353T		C9JQJ2_HUMAN				TTN,missense_variant,p.Ala14994Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala13353Thr,ENST00000591111,;TTN,missense_variant,p.Ala12426Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala6121Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala6054Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala5929Thr,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,;							MODERATE	40057/103053	A13353T	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
TTN	0	LGGM	GRCh37	2	179588152	179588152	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	45	59	.	.	ENST00000589042.1:c.21675T>A	p.Phe7225Leu	p.F7225L	ENST00000589042	NM_001267550.1	7225	ttT/ttA	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=6820&to=6909&var=F6908L	ENST00000591111		ENSG00000155657	12403		104	0.28		HGNC	p.F7225L		TTN		SNV			1				ENST00000589042	protein_coding	getma.org/?cm=var&var=hg19,2,179588152,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		F/L		T	neutral	20949/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=6820&re=6909&var=F6908L		C9JQJ2_HUMAN				TTN,missense_variant,p.Phe7225Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Phe6908Leu,ENST00000591111,;TTN,missense_variant,p.Phe5981Leu,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,;							MODERATE	20724/103053	F6908L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
MUC12	0	LGGM	GRCh37	7	100634527	100634527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091665	H091665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	237	67	.	.	ENST00000536621.1:c.683C>A	p.Pro228Gln	p.P228Q	ENST00000536621	NM_001164462.1	228	cCa/cAa	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		304	0		HGNC	p.P228Q		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100634527,C,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		P/Q		A	neutral	1112/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=P371Q						MUC12,missense_variant,p.Pro371Gln,ENST00000379442,;MUC12,missense_variant,p.Pro228Gln,ENST00000536621,NM_001164462.1;							MODERATE	1112/16437	P371Q	MUC12_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000368755					1	
OR2AE1	0	LGGM	GRCh37	7	99473825	99473825	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091665	H091665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	45	85	.	.	ENST00000316368.2:c.832A>T	p.Ser278Cys	p.S278C	ENST00000316368	NM_001005276.1	278	Agc/Tgc	0	1	1	UPI000004B1E7	0	NA	ENST00000316368		ENSG00000244623	15087		130	1.35		HGNC	p.S278C		OR2AE1		SNV							ENST00000316368	protein_coding	getma.org/?cm=var&var=hg19,7,99473825,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF196,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/C		A	low	856/1071		getma.org/?cm=msa&ty=f&p=O2AE1_HUMAN&rb=139&re=282&var=S278C	deleterious(0)				YES	OR2AE1,missense_variant,p.Ser278Cys,ENST00000316368,NM_001005276.1;TRIM4,downstream_gene_variant,,ENST00000447480,;CYP3A52P,downstream_gene_variant,,ENST00000563326,;							MODERATE	832/972	S278C	O2AE1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000313936		CCDS34696.1			1	
SULF1	0	LGGM	GRCh37	8	70512859	70512859	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091665	H091665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091665N.bam, H091665T.bam	Illumina HiSeq	22	96	.	.	ENST00000260128.4:c.756A>T	p.Ala252=	p.A252=	ENST00000260128	NM_015170.2	252	gcA/gcT	0	1	1	UPI000003FD82	0		ENST00000260128		ENSG00000137573	20391		118			HGNC	p.A252A		SULF1		SNV							ENST00000458141	protein_coding			hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,Pfam_domain:PF00884,PIRSF_domain:PIRSF036665		A		T		1473/5710				Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN			YES	SULF1,synonymous_variant,p.=,ENST00000260128,NM_015170.2;SULF1,synonymous_variant,p.=,ENST00000458141,NM_001128204.1;SULF1,synonymous_variant,p.=,ENST00000402687,NM_001128205.1;SULF1,synonymous_variant,p.=,ENST00000419716,NM_001128206.1;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,downstream_gene_variant,,ENST00000534088,;SULF1,downstream_gene_variant,,ENST00000528146,;							LOW	756/2616		SULF1_HUMAN			Transcript			.	ENSP00000260128		CCDS6204.1			1	
FLCN	0	LGGM	GRCh37	17	17124809	17124809	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	39	3	.	.	ENST00000285071.4:c.871+42C>T		*291*	ENST00000285071	NM_144997.5			0	1	1	UPI0000071D7A	0		ENST00000285071		ENSG00000154803	27310		42			HGNC	p.P305S	rs750613934	FLCN		SNV			1				ENST00000389169	protein_coding							A		-/3638	1.51E-05			J3QQZ7_HUMAN,C9J4C4_HUMAN			YES	FLCN,missense_variant,p.Pro305Ser,ENST00000389169,NM_144606.5;FLCN,intron_variant,,ENST00000285071,NM_144997.5;FLCN,downstream_gene_variant,,ENST00000417064,;MPRIP,downstream_gene_variant,,ENST00000578209,;FLCN,non_coding_transcript_exon_variant,,ENST00000466317,;RP11-45M22.4,intron_variant,,ENST00000427497,;FLCN,downstream_gene_variant,,ENST00000389168,;FLCN,downstream_gene_variant,,ENST00000389171,;FLCN,downstream_gene_variant,,ENST00000480316,;FLCN,upstream_gene_variant,,ENST00000577591,;							MODIFIER	-/1740		FLCN_HUMAN			Transcript			.	ENSP00000285071	8.24E-06	CCDS32579.1			1	
EXOC5	0	LGGM	GRCh37	14	57676766	57676766	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091689	H091689N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	47	3	.	.	ENST00000413566.2:c.1627A>G	p.Met543Val	p.M543V	ENST00000413566	NM_006544.3	543	Atg/Gtg	0	1	1	UPI0000047E53	0	NA	ENST00000413566		ENSG00000070367	10696		50	-0.285		HGNC	p.M543V		EXOC5		SNV							ENST00000413566	protein_coding	getma.org/?cm=var&var=hg19,14,57676766,T,C&fts=all		Pfam_domain:PF07393,hmmpanther:PTHR12100		M/V		C	neutral	1987/7296		getma.org/?cm=msa&ty=f&p=EXOC5_HUMAN&rb=89&re=707&var=M543V	tolerated(0.37)	Q658M3_HUMAN,G3V4Z7_HUMAN			YES	EXOC5,missense_variant,p.Met543Val,ENST00000413566,NM_006544.3;EXOC5,missense_variant,p.Met478Val,ENST00000340918,;AL391152.1,downstream_gene_variant,,ENST00000391612,;EXOC5,3_prime_UTR_variant,,ENST00000555148,;EXOC5,non_coding_transcript_exon_variant,,ENST00000554011,;							MODERATE	1627/2127	M543V	EXOC5_HUMAN			Transcript		benign(0.017)	.	ENSP00000389934		CCDS45111.1			1	
C1QTNF9	0	LGGM	GRCh37	13	24890186	24890186	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	33	3	.	.	ENST00000382071.2:c.45G>T	p.Gly15=	p.G15=	ENST00000382071		15	ggG/ggT	0	1		UPI000004F06F	0		ENST00000332018		ENSG00000240654	28732		36			HGNC	p.G15G		C1QTNF9		SNV							ENST00000382066	protein_coding			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF73		G		T		106/1830								C1QTNF9,synonymous_variant,p.=,ENST00000382071,;C1QTNF9,synonymous_variant,p.=,ENST00000332018,NM_178540.3;C1QTNF9-AS1,non_coding_transcript_exon_variant,,ENST00000449656,;RP11-307N16.6,3_prime_UTR_variant,,ENST00000382141,;							LOW	45/1002		C1T9A_HUMAN			Transcript			.	ENSP00000333737		CCDS9306.1			1	
KLHL4	0	LGGM	GRCh37	X	86772930	86772930	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091689	H091689N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	22	3	.	.	ENST00000373114.4:c.34A>T	p.Lys12Ter	p.K12*	ENST00000373114	NM_057162.2	12	Aaa/Taa	0	1		UPI000012DE06	0	NA	ENST00000373119		ENSG00000102271	6355		25	0		HGNC	p.K12X		KLHL4		SNV							ENST00000373114	protein_coding	getma.org/?cm=var&var=hg19,X,86772930,A,T&fts=all				K/*		T	NA	179/5818		NA		Q9H955_HUMAN,Q8N3U5_HUMAN,A5PKX1_HUMAN				KLHL4,stop_gained,p.Lys12Ter,ENST00000373119,NM_019117.4;KLHL4,stop_gained,p.Lys12Ter,ENST00000373114,NM_057162.2;							HIGH	34/2157	K12*	KLHL4_HUMAN			Transcript			.	ENSP00000362211		CCDS14457.1			1	
MAP4	0	LGGM	GRCh37	3	47917279	47917279	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	23	4	.	.	ENST00000360240.6:c.2218C>T	p.Pro740Ser	p.P740S	ENST00000360240	NM_002375.4	740	Ccc/Tcc	0	1	1	UPI000020A6A4	0	NA	ENST00000360240		ENSG00000047849	6862		27	1.87		HGNC	p.P1885S		MAP4		SNV							ENST00000426837	protein_coding	getma.org/?cm=var&var=hg19,3,47917279,G,A&fts=all		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF16		P/S		A	low	2737/5142		getma.org/?cm=msa&ty=f&p=MAP4_HUMAN&rb=671&re=870&var=P740S	tolerated(0.07)				YES	MAP4,missense_variant,p.Pro1885Ser,ENST00000426837,;MAP4,missense_variant,p.Pro740Ser,ENST00000395734,NM_001134364.1;MAP4,missense_variant,p.Pro468Ser,ENST00000383737,;MAP4,missense_variant,p.Pro740Ser,ENST00000360240,NM_002375.4;MAP4,missense_variant,p.Pro475Ser,ENST00000264724,;MAP4,missense_variant,p.Pro151Ser,ENST00000429422,;MAP4,missense_variant,p.Pro475Ser,ENST00000383736,;MAP4,intron_variant,,ENST00000420772,;MAP4,intron_variant,,ENST00000335271,;MAP4,intron_variant,,ENST00000441748,;MAP4,intron_variant,,ENST00000462206,;MAP4,downstream_gene_variant,,ENST00000482752,;MAP4,downstream_gene_variant,,ENST00000497735,;							MODERATE	2218/3459	P740S	MAP4_HUMAN			Transcript		possibly_damaging(0.53)	.	ENSP00000353375		CCDS33750.1			1	
FBN2	0	LGGM	GRCh37	5	127645023	127645023	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	19	6	.	.	ENST00000508053.1:c.5269G>A	p.Val1757Met	p.V1757M	ENST00000508053		1757	Gtg/Atg	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=1747&to=1790&var=V1757M	ENST00000262464		ENSG00000138829	3604		25	-0.42		HGNC	p.V1757M		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127645023,C,T&fts=all		Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581		V/M		T	neutral	5708/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=1747&re=1790&var=V1757M	tolerated(0.77)					FBN2,missense_variant,p.Val1757Met,ENST00000508053,;FBN2,missense_variant,p.Val1757Met,ENST00000262464,NM_001999.3;							MODERATE	5269/8739	V1757M	FBN2_HUMAN			Transcript		benign(0.129)	.	ENSP00000262464		CCDS34222.1			1	
MYO7A	0	LGGM	GRCh37	11	76892534	76892534	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	6	7	.	.	ENST00000409709.3:c.2803G>T	p.Glu935Ter	p.E935*	ENST00000409709	NM_000260.3	935	Gag/Tag	0	1	1	UPI00001FAFE6	0	NA	ENST00000409709		ENSG00000137474	7606		13	0		HGNC	p.E116X		MYO7A		SNV			1				ENST00000458169	protein_coding	getma.org/?cm=var&var=hg19,11,76892534,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258		E/*		T	NA	3075/7462		NA					YES	MYO7A,stop_gained,p.Glu935Ter,ENST00000409709,NM_000260.3;MYO7A,stop_gained,p.Glu935Ter,ENST00000458637,NM_001127180.1;MYO7A,stop_gained,p.Glu924Ter,ENST00000409619,;MYO7A,stop_gained,p.Glu116Ter,ENST00000458169,;MYO7A,stop_gained,p.Glu935Ter,ENST00000409893,NM_001127179.2;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,;MYO7A,upstream_gene_variant,,ENST00000467137,;							HIGH	2803/6648	E935*	MYO7A_HUMAN			Transcript			.	ENSP00000386331		CCDS53683.1			1	
COL22A1	0	LGGM	GRCh37	8	139890131	139890131	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	7	7	.	.	ENST00000303045.6:c.520G>C	p.Ala174Pro	p.A174P	ENST00000303045	NM_152888.1	174	Gcc/Ccc	0	1	1	UPI00001C1EA1	0	getma.org/pdb.php?prot=COMA1_HUMAN&from=38&to=213&var=A174P	ENST00000303045		ENSG00000169436	22989		14	2.105		HGNC	p.A174P		COL22A1		SNV							ENST00000303045	protein_coding	getma.org/?cm=var&var=hg19,8,139890131,C,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50234,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300		A/P		G	medium	967/6346		getma.org/?cm=msa&ty=f&p=COMA1_HUMAN&rb=38&re=213&var=A174P					YES	COL22A1,missense_variant,p.Ala174Pro,ENST00000303045,NM_152888.1;COL22A1,missense_variant,p.Ala174Pro,ENST00000435777,;COL22A1,downstream_gene_variant,,ENST00000484387,;							MODERATE	520/4881	A174P	COMA1_HUMAN			Transcript		unknown(0)	.	ENSP00000303153		CCDS6376.1			1	
MED13	0	LGGM	GRCh37	17	60088493	60088493	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091689	H091689N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	10	7	.	.	ENST00000397786.2:c.1385A>T	p.Gln462Leu	p.Q462L	ENST00000397786	NM_005121.2	462	cAa/cTa	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474		17	1.32		HGNC	p.Q462L		MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60088493,T,A&fts=all		hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		Q/L		A	low	1462/10465		getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=385&re=584&var=Q462L	tolerated(0.22)				YES	MED13,missense_variant,p.Gln462Leu,ENST00000397786,NM_005121.2;MED13,missense_variant,p.Gln122Leu,ENST00000583958,;AC018628.1,downstream_gene_variant,,ENST00000408375,;							MODERATE	1385/6525	Q462L	MED13_HUMAN			Transcript		benign(0.003)	.	ENSP00000380888		CCDS42366.1			1	
LTBP1	0	LGGM	GRCh37	2	33567977	33567977	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	11	8	.	.	ENST00000404816.2:c.3803G>T	p.Arg1268Leu	p.R1268L	ENST00000404816		1268	cGc/cTc	0	1	1	UPI000173A4A4	0	NA	ENST00000404816		ENSG00000049323	6714		19	1.71		HGNC	p.R943L	COSM359424	LTBP1		SNV						1	ENST00000390003	protein_coding	getma.org/?cm=var&var=hg19,2,33567977,G,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196		R/L		T	low	4156/6333		getma.org/?cm=msa&ty=f&p=LTBP1_HUMAN&rb=1244&re=1281&var=R1268L	tolerated(0.47)	H7C2H7_HUMAN			YES	LTBP1,missense_variant,p.Arg1268Leu,ENST00000404816,;LTBP1,missense_variant,p.Arg1269Leu,ENST00000354476,NM_206943.2;LTBP1,missense_variant,p.Arg943Leu,ENST00000390003,NM_000627.3;LTBP1,missense_variant,p.Arg889Leu,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Arg942Leu,ENST00000407925,;LTBP1,missense_variant,p.Arg889Leu,ENST00000402934,;LTBP1,missense_variant,p.Arg235Leu,ENST00000415140,;LTBP1,intron_variant,,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,intron_variant,,ENST00000272273,;LTBP1,intron_variant,,ENST00000422669,;					1		MODERATE	3803/5166	R1268L	LTBP1_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000386043		CCDS33177.2			1	
C4orf50	0	LGGM	GRCh37	4	5977630	5977630	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091689	H091689N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	22	8	.	.	ENST00000531445.1:c.1643T>G	p.Leu548Arg	p.L548R	ENST00000531445		548	cTg/cGg	0	1		UPI00001C0FBD	0	NA	ENST00000324058		ENSG00000181215	33766		30	2.125		HGNC	p.L74R		C4orf50		SNV							ENST00000324058	protein_coding	getma.org/?cm=var&var=hg19,4,5977630,A,C&fts=all		Pfam_domain:PF15030		L/R		C	medium	311/3178		getma.org/?cm=msa&ty=f&p=CD050_HUMAN&rb=4&re=272&var=L74R	deleterious(0)					C4orf50,missense_variant,p.Leu548Arg,ENST00000531445,;C4orf50,missense_variant,p.Leu74Arg,ENST00000324058,;							MODERATE	221/831	L74R	CD050_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000317287					1	
TMEM43	0	LGGM	GRCh37	3	14175305	14175305	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	29	8	.	.	ENST00000306077.4:c.579G>A	p.Ser193=	p.S193=	ENST00000306077	NM_024334.2	193	tcG/tcA	0	1	1	UPI0000048F42	0		ENST00000306077		ENSG00000170876	28472		37			HGNC	p.S193S	rs369319499,COSM1039282	TMEM43	0.000182	SNV			1	9.61E-05		0,1	ENST00000306077	protein_coding		A:0	Pfam_domain:PF07787,hmmpanther:PTHR13416:SF0,hmmpanther:PTHR13416		S		A		833/3341	5.99E-05				A:0	A:0.002	YES	TMEM43,synonymous_variant,p.=,ENST00000306077,NM_024334.2;RP11-434D12.1,upstream_gene_variant,,ENST00000601399,;TMEM43,downstream_gene_variant,,ENST00000432444,;RP11-434D12.1,upstream_gene_variant,,ENST00000608606,;	0.00104	A:0.0004			0,1		LOW	579/1203		TMM43_HUMAN		A:0	Transcript			common_variant	ENSP00000303992	0.00014	CCDS2618.1		A:0	1	
LGR5	0	LGGM	GRCh37	12	71977624	71977624	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	25	12	.	.	ENST00000266674.5:c.1834G>A	p.Val612Met	p.V612M	ENST00000266674	NM_001277226.1	612	Gtg/Atg	0	1	1	UPI000004B65C	0	NA	ENST00000266674		ENSG00000139292	4504		37	1.81		HGNC	p.V612M	rs765873009,COSM3399076	LGR5		SNV						0,1	ENST00000266674	protein_coding	getma.org/?cm=var&var=hg19,12,71977624,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/M		A	low	2145/4611	4.50E-05	getma.org/?cm=msa&ty=f&p=LGR5_HUMAN&rb=574&re=820&var=V612M	tolerated(0.26)				YES	LGR5,missense_variant,p.Val612Met,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,missense_variant,p.Val588Met,ENST00000540815,;LGR5,missense_variant,p.Val540Met,ENST00000536515,;RP11-186F10.2,non_coding_transcript_exon_variant,,ENST00000546601,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;LGR5,downstream_gene_variant,,ENST00000547310,;	0.000116				0,1		MODERATE	1834/2724	V612M	LGR5_HUMAN			Transcript		benign(0.149)	.	ENSP00000266674	3.29E-05	CCDS9000.1			1	
MZT2A	0	LGGM	GRCh37	2	132241715	132241715	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	29	14	.	.	ENST00000309451.6:c.396G>C	p.Gln132His	p.Q132H	ENST00000309451	NM_001085365.1	132	caG/caC	0	1	1	UPI0000421BEF	0	NA	ENST00000309451		ENSG00000173272	33187		43	1.955		HGNC	p.Q132H		MZT2A		SNV							ENST00000309451	protein_coding	getma.org/?cm=var&var=hg19,2,132241715,C,G&fts=all				Q/H		G	medium	442/624		getma.org/?cm=msa&ty=f&p=MZT2A_HUMAN&rb=98&re=158&var=Q132H	deleterious(0)				YES	MZT2A,missense_variant,p.Gln132His,ENST00000309451,NM_001085365.1;TUBA3D,downstream_gene_variant,,ENST00000321253,NM_080386.3;MZT2A,non_coding_transcript_exon_variant,,ENST00000410036,;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000488586,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;							MODERATE	396/477	Q132H	MZT2A_HUMAN			Transcript		benign(0.039)	.	ENSP00000311500		CCDS42758.1			1	
PLCB3	0	LGGM	GRCh37	11	64029122	64029122	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	21	14	.	.	ENST00000540288.1:c.1898C>G	p.Pro633Arg	p.P633R	ENST00000540288	NM_000932.2	633	cCc/cGc	0	1		UPI0000131AFF	0	getma.org/pdb.php?prot=PLCB3_HUMAN&from=589&to=706&var=P633R	ENST00000279230		ENSG00000149782	9056		35	2.08		HGNC	p.P566R		PLCB3		SNV							ENST00000325234	protein_coding	getma.org/?cm=var&var=hg19,11,64029122,C,G&fts=all		PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF11,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695		P/R		G	medium	2025/4197		getma.org/?cm=msa&ty=f&p=PLCB3_HUMAN&rb=589&re=706&var=P633R	deleterious(0)					PLCB3,missense_variant,p.Pro633Arg,ENST00000540288,NM_000932.2;PLCB3,missense_variant,p.Pro633Arg,ENST00000279230,;PLCB3,missense_variant,p.Pro566Arg,ENST00000325234,NM_001184883.1;PLCB3,upstream_gene_variant,,ENST00000536243,;							MODERATE	1898/3705	P633R	PLCB3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000279230		CCDS8064.1			1	
PRELP	0	LGGM	GRCh37	1	203453101	203453101	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	108	14	.	.	ENST00000343110.2:c.789G>A	p.Lys263=	p.K263=	ENST00000343110	NM_201348.1	263	aaG/aaA	0	1	1	UPI000013222E	0		ENST00000343110		ENSG00000188783	9357		122			HGNC	p.K263K		PRELP		SNV							ENST00000343110	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF15,SMART_domains:SM00369,Superfamily_domains:SSF52058		K		A		916/5747				Q7Z4B2_HUMAN			YES	PRELP,synonymous_variant,p.=,ENST00000343110,NM_201348.1,NM_002725.3;							LOW	789/1149		PRELP_HUMAN			Transcript			.	ENSP00000343924		CCDS1438.1			1	
SLC25A11	0	LGGM	GRCh37	17	4841669	4841669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	6	15	.	.	ENST00000225665.7:c.602C>T	p.Ser201Phe	p.S201F	ENST00000225665	NM_001165417.1	201	tCc/tTc	0	1	1	UPI00000738E8	0	getma.org/pdb.php?prot=M2OM_HUMAN&from=115&to=213&var=S201F	ENST00000225665		ENSG00000108528	10981		21	1.455		HGNC	p.S201F		SLC25A11		SNV							ENST00000225665	protein_coding	getma.org/?cm=var&var=hg19,17,4841669,G,A&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF86,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588		S/F		A	low	943/1897		getma.org/?cm=msa&ty=f&p=M2OM_HUMAN&rb=115&re=213&var=S201F	deleterious(0.03)	Q6IBH0_HUMAN			YES	SLC25A11,missense_variant,p.Ser201Phe,ENST00000225665,NM_001165417.1,NM_003562.4;SLC25A11,missense_variant,p.Ser150Phe,ENST00000544061,NM_001165418.1;SLC25A11,missense_variant,p.Ser190Phe,ENST00000576951,;GP1BA,downstream_gene_variant,,ENST00000329125,NM_000173.5;RNF167,upstream_gene_variant,,ENST00000262482,NM_015528.1;RNF167,upstream_gene_variant,,ENST00000575111,;RNF167,upstream_gene_variant,,ENST00000571816,;RNF167,upstream_gene_variant,,ENST00000572430,;RNF167,upstream_gene_variant,,ENST00000576229,;RNF167,upstream_gene_variant,,ENST00000572382,;RNF167,upstream_gene_variant,,ENST00000576965,;RNF167,upstream_gene_variant,,ENST00000576452,;RNF167,upstream_gene_variant,,ENST00000573404,;RNF167,upstream_gene_variant,,ENST00000570328,;RNF167,upstream_gene_variant,,ENST00000570492,;RNF167,upstream_gene_variant,,ENST00000571365,;SLC25A11,non_coding_transcript_exon_variant,,ENST00000574710,;SLC25A11,non_coding_transcript_exon_variant,,ENST00000570543,;RNF167,upstream_gene_variant,,ENST00000575400,;RNF167,upstream_gene_variant,,ENST00000575524,;RNF167,upstream_gene_variant,,ENST00000572554,;							MODERATE	602/945	S201F	M2OM_HUMAN			Transcript		benign(0.248)	.	ENSP00000225665		CCDS11059.1			1	
CRIM1	0	LGGM	GRCh37	2	36775798	36775798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091689	H091689N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	34	16	.	.	ENST00000280527.2:c.3065A>T	p.Gln1022Leu	p.Q1022L	ENST00000280527	NM_016441.2	1022	cAa/cTa	0	1	1	UPI000004C628	0	NA	ENST00000280527		ENSG00000150938	2359		50	0.895		HGNC	p.Q1022L		CRIM1		SNV							ENST00000280527	protein_coding	getma.org/?cm=var&var=hg19,2,36775798,A,T&fts=all		hmmpanther:PTHR11339		Q/L		T	low	3432/5912		getma.org/?cm=msa&ty=f&p=CRIM1_HUMAN&rb=874&re=1036&var=Q1022L	deleterious_low_confidence(0.01)	Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN			YES	CRIM1,missense_variant,p.Gln1022Leu,ENST00000280527,NM_016441.2;AC007401.2,intron_variant,,ENST00000406220,;FEZ2,downstream_gene_variant,,ENST00000379245,NM_001042548.1;FEZ2,downstream_gene_variant,,ENST00000405912,NM_005102.2;FEZ2,downstream_gene_variant,,ENST00000305852,;FEZ2,downstream_gene_variant,,ENST00000441005,;FEZ2,downstream_gene_variant,,ENST00000487919,;FEZ2,downstream_gene_variant,,ENST00000487282,;FEZ2,downstream_gene_variant,,ENST00000475815,;FEZ2,downstream_gene_variant,,ENST00000413938,;FEZ2,downstream_gene_variant,,ENST00000451623,;FEZ2,downstream_gene_variant,,ENST00000432869,;FEZ2,downstream_gene_variant,,ENST00000414288,;							MODERATE	3065/3111	Q1022L	CRIM1_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000280527		CCDS1783.1			1	
KCNH1	0	LGGM	GRCh37	1	211276897	211276897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	61	17	.	.	ENST00000271751.4:c.251G>A	p.Arg84Gln	p.R84Q	ENST00000271751		84	cGg/cAg	0	1	1	UPI000003230D	0	getma.org/pdb.php?prot=KCNH1_HUMAN&from=30&to=135&var=R84Q	ENST00000271751		ENSG00000143473	6250	8.67E-05	78	0.875		HGNC	p.R84Q	rs370185149	KCNH1		SNV	T:0		1				ENST00000271751	protein_coding	getma.org/?cm=var&var=hg19,1,211276897,C,T&fts=all	T:0	Gene3D:3.30.450.20,Pfam_domain:PF13426,PROSITE_profiles:PS50112,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF377,Superfamily_domains:SSF55785,TIGRFAM_domain:TIGR00229		R/Q	T:0.0001	T	low	279/3066	6.01E-05	getma.org/?cm=msa&ty=f&p=KCNH1_HUMAN&rb=30&re=135&var=R84Q	tolerated(0.21)		T:0	T:0	YES	KCNH1,missense_variant,p.Arg84Gln,ENST00000367007,NM_172362.2,NM_002238.3;KCNH1,missense_variant,p.Arg84Gln,ENST00000271751,;	0.000116	T:0.0002					MODERATE	251/2970	R84Q	KCNH1_HUMAN		T:0.001	Transcript		benign(0.036)	.	ENSP00000271751	4.94E-05	CCDS1496.1		T:0	1	
MEX3A	0	LGGM	GRCh37	1	156051738	156051738	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	68	18	.	.	ENST00000532414.2:c.52G>T	p.Glu18Ter	p.E18*	ENST00000532414	NM_001093725.1	18	Gaa/Taa	0	1	1	UPI0000ECD9C5	0	NA	ENST00000532414		ENSG00000254726	33482		86	0		HGNC	p.E18X		MEX3A		SNV							ENST00000532414	protein_coding	getma.org/?cm=var&var=hg19,1,156051738,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23285:SF2,hmmpanther:PTHR23285		E/*		A	NA	52/6124		NA					YES	MEX3A,stop_gained,p.Glu18Ter,ENST00000532414,NM_001093725.1;LMNA,upstream_gene_variant,,ENST00000368301,NM_001282625.1;AL355388.1,downstream_gene_variant,,ENST00000410679,;MEX3A,upstream_gene_variant,,ENST00000442784,;LMNA,upstream_gene_variant,,ENST00000502751,;LMNA,upstream_gene_variant,,ENST00000470835,;LMNA,upstream_gene_variant,,ENST00000495341,;							HIGH	52/1563	E18*	MEX3A_HUMAN			Transcript			.	ENSP00000432845		CCDS53377.1			1	
OR6C4	0	LGGM	GRCh37	12	55945613	55945613	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	22	20	.	.	ENST00000394256.2:c.603C>A	p.Ala201=	p.A201=	ENST00000394256	NM_001005494.1	201	gcC/gcA	0	1	1	UPI000004A282	0		ENST00000394256		ENSG00000179626	19632		42			HGNC	p.A201A		OR6C4		SNV							ENST00000394256	protein_coding			Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26454:SF9,hmmpanther:PTHR26454,PROSITE_profiles:PS50262,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A		A		631/1046							YES	OR6C4,synonymous_variant,p.=,ENST00000394256,NM_001005494.1;AC009779.1,downstream_gene_variant,,ENST00000584743,;RP11-110A12.2,intron_variant,,ENST00000556750,;RP11-110A12.2,intron_variant,,ENST00000555138,;							LOW	603/930		OR6C4_HUMAN			Transcript			.	ENSP00000377799		CCDS31827.1			1	
SCP2	0	LGGM	GRCh37	1	53513577	53513577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	18	21	.	.	ENST00000371514.3:c.1516G>A	p.Ala506Thr	p.A506T	ENST00000371514	NM_002979.4	506	Gct/Act	0	1	1	UPI0000130258	0		ENST00000371514		ENSG00000116171	10606		39			HGNC	p.W58X		SCP2		SNV			1				ENST00000408941	protein_coding			hmmpanther:PTHR24314:SF8,hmmpanther:PTHR24314,Pfam_domain:PF02036,Gene3D:3.30.1050.10,Superfamily_domains:SSF55718		A/T		A		1684/2811			tolerated(0.19)				YES	SCP2,stop_gained,p.Trp58Ter,ENST00000488965,;SCP2,stop_gained,p.Trp58Ter,ENST00000408941,NM_001007250.2;SCP2,stop_gained,p.Trp77Ter,ENST00000484100,;SCP2,missense_variant,p.Ala506Thr,ENST00000371514,NM_002979.4;SCP2,missense_variant,p.Ala482Thr,ENST00000407246,NM_001193599.1;SCP2,missense_variant,p.Ala425Thr,ENST00000528311,NM_001193617.1;SCP2,missense_variant,p.Ala462Thr,ENST00000371509,NM_001193600.1;SCP2,missense_variant,p.Ala121Thr,ENST00000478274,;SCP2,missense_variant,p.Ala99Thr,ENST00000430330,NM_001007099.2,NM_001007100.2;SCP2,missense_variant,p.Ala102Thr,ENST00000435345,;SCP2,3_prime_UTR_variant,,ENST00000478631,;SCP2,3_prime_UTR_variant,,ENST00000533119,;							MODERATE	1516/1644		NLTP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360569		CCDS572.1			1	
NEDD1	0	LGGM	GRCh37	12	97328927	97328927	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	56	24	.	.	ENST00000557644.1:c.684C>G	p.Leu228=	p.L228=	ENST00000557644	NM_001135175.1	228	ctC/ctG	0	1		UPI000004F17B	0		ENST00000266742		ENSG00000139350	7723		80			HGNC	p.L132L	COSM469112	NEDD1		SNV						1	ENST00000457368	protein_coding			PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF333,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		L		G		1002/3620				G3V4L2_HUMAN,G3V4I9_HUMAN,G3V2M9_HUMAN				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;NEDD1,synonymous_variant,p.=,ENST00000553609,;NEDD1,downstream_gene_variant,,ENST00000557478,;NEDD1,non_coding_transcript_exon_variant,,ENST00000555114,;NEDD1,non_coding_transcript_exon_variant,,ENST00000557454,;NEDD1,intron_variant,,ENST00000555806,;					1		LOW	663/1983		NEDD1_HUMAN			Transcript			.	ENSP00000266742		CCDS9063.1			1	
UMODL1	0	LGGM	GRCh37	21	43505430	43505430	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091689	H091689N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	46	25	.	.	ENST00000408989.2:c.511T>C	p.Tyr171His	p.Y171H	ENST00000408989	NM_173568.3	171	Tac/Cac	0	1		UPI00006C2192	0	NA	ENST00000408910		ENSG00000177398	12560		71	1.995		HGNC	p.Y99H		UMODL1		SNV							ENST00000400424	protein_coding	getma.org/?cm=var&var=hg19,21,43505430,T,C&fts=all		hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135		Y/H		C	medium	511/4878		getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=158&re=263&var=Y171H	deleterious(0)	Q6L9N9_HUMAN				UMODL1,missense_variant,p.Tyr99His,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Tyr99His,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Tyr171His,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Tyr171His,ENST00000408910,NM_001004416.2;UMODL1,missense_variant,p.Tyr7His,ENST00000491559,;UMODL1,missense_variant,p.Tyr7His,ENST00000466434,;UMODL1,missense_variant,p.Tyr7His,ENST00000400421,;UMODL1,missense_variant,p.Tyr7His,ENST00000468982,;UMODL1,missense_variant,p.Tyr7His,ENST00000485357,;UMODL1,missense_variant,p.Tyr7His,ENST00000497243,;							MODERATE	511/3957	Y171H	UROL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386147		CCDS42936.1			1	
TRAV8-6	0	LGGM	GRCh37	14	22447069	22447069	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091689	H091689N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	44	31	.	.	ENST00000390443.3:c.50G>A	p.Gly17Glu	p.G17E	ENST00000390443		17	gGa/gAa	0	1	1	UPI000011C712	0		ENST00000390443		ENSG00000211795	12151		75			HGNC	p.G17E		TRAV8-6		SNV							ENST00000390443	TR_V_gene			Cleavage_site_(Signalp):SignalP-noTM,PROSITE_profiles:PS50835,hmmpanther:PTHR19367,hmmpanther:PTHR19367:SF5		G/E		A		270/561			tolerated(0.19)				YES	TRAV8-6,missense_variant,p.Gly17Glu,ENST00000390443,;							MODERATE	50/341					Transcript		benign(0.132)	.	ENSP00000450505					1	
IGHV3-21	0	LGGM	GRCh37	14	106691890	106691890	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	92	49	.	.	ENST00000390607.2:c.134G>C	p.Gly45Ala	p.G45A	ENST00000390607		45	gGa/gCa	0	1	1	UPI000011AAD7	0		ENST00000390607		ENSG00000211947	5586	8.65E-05	141			HGNC	p.G45A	rs558342786	IGHV3-21		SNV			1				ENST00000390607	IG_V_gene		T:0	PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		G/A		G		213/430	3.01E-05		deleterious_low_confidence(0)		T:0	T:0.002	YES	IGHV3-21,missense_variant,p.Gly45Ala,ENST00000390607,;		T:0.0004					MODERATE	134/351				T:0	Transcript		probably_damaging(0.981)	.	ENSP00000375016	2.48E-05			T:0	1	
UGT2B7	0	LGGM	GRCh37	4	69978239	69978239	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091689	H091689N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	35	71	.	.	ENST00000305231.7:c.1375C>T	p.Arg459Ter	p.R459*	ENST00000305231	NM_001074.2	459	Cga/Tga	0	1	1	UPI00000015EC	0	NA	ENST00000305231		ENSG00000171234	12554		106	0		HGNC	p.R459X	rs770419807,COSM1056925	UGT2B7	6.06E-05	SNV						0,1	ENST00000305231	protein_coding	getma.org/?cm=var&var=hg19,4,69978239,C,T&fts=all		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756		R/*		T	NA	1421/1887	1.50E-05	NA		Q9HCT7_HUMAN,Q5QKR3_HUMAN,D6RH08_HUMAN			YES	UGT2B7,stop_gained,p.Arg459Ter,ENST00000305231,NM_001074.2;UGT2B7,3_prime_UTR_variant,,ENST00000508661,;UGT2B7,downstream_gene_variant,,ENST00000502942,;UGT2B7,non_coding_transcript_exon_variant,,ENST00000509763,;					0,1		HIGH	1375/1590	R459*	UD2B7_HUMAN			Transcript			.	ENSP00000304811	1.65E-05	CCDS3526.1			1	
ANK3	0	LGGM	GRCh37	10	61829026	61829026	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H091689	H091689N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	111	75	.	.	ENST00000280772.2:c.11613A>C	p.Ser3871=	p.S3871=	ENST00000280772	NM_020987.3	3871	tcA/tcC	0	1	1	UPI0000141BA9	0		ENST00000280772		ENSG00000151150	494		186			HGNC	p.S3871S		ANK3		SNV			1				ENST00000280772	protein_coding			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		S		G		11805/16874				D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	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,;ANK3,upstream_gene_variant,,ENST00000514197,;ANK3,upstream_gene_variant,,ENST00000459732,;							LOW	11613/13134		ANK3_HUMAN			Transcript			.	ENSP00000280772		CCDS7258.1			1	
SSX1	0	LGGM	GRCh37	X	48123245	48123245	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091689	H091689N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091689N.bam, H091689T.bam	Illumina HiSeq	16	88	.	.	ENST00000376919.3:c.359A>C	p.Glu120Ala	p.E120A	ENST00000376919	NM_005635.3	120	gAa/gCa	0	1	1	UPI0000136052	0	NA	ENST00000376919		ENSG00000126752	11335		104	0.895		HGNC	p.E120A		SSX1		SNV			1				ENST00000376919	protein_coding	getma.org/?cm=var&var=hg19,X,48123245,A,C&fts=all		hmmpanther:PTHR14112,hmmpanther:PTHR14112:SF8		E/A		C	low	495/1298		getma.org/?cm=msa&ty=f&p=SSX1_HUMAN&rb=1&re=154&var=E120A	tolerated(0.15)				YES	SSX1,missense_variant,p.Glu120Ala,ENST00000376919,NM_005635.3,NM_001278691.1;							MODERATE	359/567	E120A	SSX1_HUMAN			Transcript		benign(0.031)	.	ENSP00000366118		CCDS14290.1			1	
MLNR	0	LGGM	GRCh37	13	49796503	49796503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	7	2	.	.	ENST00000218721.1:c.1229C>A	p.Thr410Lys	p.T410K	ENST00000218721	NM_001507.1	410	aCg/aAg	0	1	1	UPI000003C2FB	0	NA	ENST00000218721		ENSG00000102539	4495		9	0.345		HGNC	p.T410K		MLNR		SNV							ENST00000218721	protein_coding	getma.org/?cm=var&var=hg19,13,49796503,C,A&fts=all		hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF3		T/K		A	neutral	1229/1239		getma.org/?cm=msa&ty=f&p=MTLR_HUMAN&rb=356&re=412&var=T410K	deleterious_low_confidence(0.01)				YES	MLNR,missense_variant,p.Thr410Lys,ENST00000218721,NM_001507.1;MLNR,3_prime_UTR_variant,,ENST00000398307,;							MODERATE	1229/1239	T410K	MTLR_HUMAN			Transcript		benign(0.028)	.	ENSP00000218721		CCDS9414.1			1	
POM121L2	0	LGGM	GRCh37	6	27279225	27279225	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	47	3	.	.	ENST00000444565.1:c.725G>A	p.Ser242Asn	p.S242N	ENST00000444565	NM_033482.3	242	aGc/aAc	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		50	1.65		HGNC	p.S242N		POM121L2		SNV							ENST00000377451	protein_coding	getma.org/?cm=var&var=hg19,6,27279225,C,T&fts=all		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		S/N		T	low	725/3108		getma.org/?cm=msa&ty=f&p=P12L2_HUMAN&rb=1&re=969&var=S242N	tolerated(0.08)	C9J1I7_HUMAN			YES	POM121L2,missense_variant,p.Ser242Asn,ENST00000444565,NM_033482.3;POM121L2,missense_variant,p.Ser242Asn,ENST00000377451,;POM121L2,upstream_gene_variant,,ENST00000429945,;							MODERATE	725/3108	S242N				Transcript		benign(0.318)	.	ENSP00000392726		CCDS59497.1			1	
MRVI1	0	LGGM	GRCh37	11	10615140	10615140	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	46	3	.	.	ENST00000423302.2:c.2074C>T	p.Pro692Ser	p.P692S	ENST00000423302	NM_130385.3	692	Cct/Tct	0	1	1	UPI0001F78343	0	NA	ENST00000423302		ENSG00000072952	7237	0.000349	49	1.13		HGNC	p.P692S	rs768371864	MRVI1		SNV							ENST00000423302	protein_coding	getma.org/?cm=var&var=hg19,11,10615140,G,A&fts=all		Pfam_domain:PF05781,hmmpanther:PTHR15352,hmmpanther:PTHR15352:SF2		P/S		A	low	2224/6126	0.000166	getma.org/?cm=msa&ty=f&p=MRVI1_HUMAN&rb=293&re=885&var=P665S	tolerated(0.11)	H0YI08_HUMAN,E9PRG4_HUMAN			YES	MRVI1,missense_variant,p.Pro601Ser,ENST00000547195,NM_001100163.2,NM_001206881.1;MRVI1,missense_variant,p.Pro692Ser,ENST00000423302,NM_130385.3,NM_001206880.1;MRVI1,missense_variant,p.Pro601Ser,ENST00000552103,;MRVI1,missense_variant,p.Pro377Ser,ENST00000545852,;MRVI1,missense_variant,p.Pro683Ser,ENST00000421747,NM_001098579.2;MRVI1,missense_variant,p.Pro665Ser,ENST00000436272,;MRVI1,missense_variant,p.Pro377Ser,ENST00000424001,;MRVI1,missense_variant,p.Pro377Ser,ENST00000558540,NM_001100167.2;MRVI1,missense_variant,p.Pro684Ser,ENST00000531107,;MRVI1,missense_variant,p.Pro377Ser,ENST00000534266,;MRVI1,missense_variant,p.Pro601Ser,ENST00000527509,;MRVI1,missense_variant,p.Pro486Ser,ENST00000541483,;MRVI1-AS1,intron_variant,,ENST00000525578,;MRVI1-AS1,intron_variant,,ENST00000529979,;MRVI1-AS1,intron_variant,,ENST00000529829,;LYVE1,intron_variant,,ENST00000531706,;MRVI1,missense_variant,p.Ala418Val,ENST00000526414,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;MRVI1,non_coding_transcript_exon_variant,,ENST00000529471,;							MODERATE	2074/2739	P665S	MRVI1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412130	0.000132	CCDS55746.1	0.00112		1	
MYO18B	0	LGGM	GRCh37	22	26165160	26165160	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	8	3	.	.	ENST00000335473.7:c.1277T>C	p.Val426Ala	p.V426A	ENST00000335473	NM_032608.5	426	gTg/gCg	0	1		UPI0000207402	0	NA	ENST00000536101		ENSG00000133454	18150		11	0.69		HGNC	p.V426A	rs773576632	MYO18B		SNV							ENST00000407587	protein_coding	getma.org/?cm=var&var=hg19,22,26165160,T,C&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254		V/A		C	neutral	1536/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=401&re=572&var=V426A	tolerated_low_confidence(0.88)	Q8N903_HUMAN				MYO18B,missense_variant,p.Val426Ala,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Val426Ala,ENST00000407587,;MYO18B,missense_variant,p.Val426Ala,ENST00000536101,;MYO18B,missense_variant,p.Val426Ala,ENST00000539302,;MYO18B,upstream_gene_variant,,ENST00000418374,;	0.000182						MODERATE	1277/7704	V426A				Transcript		benign(0.002)	.	ENSP00000441229	8.26E-06	CCDS54507.1			1	
HJURP	0	LGGM	GRCh37	2	234750760	234750760	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	43	3	.	.	ENST00000411486.2:c.666C>A	p.Ser222=	p.S222=	ENST00000411486	NM_018410.3	222	tcC/tcA	0	1	1	UPI000013CB29	0		ENST00000411486		ENSG00000123485	25444		46			HGNC	p.S137S		HJURP		SNV							ENST00000441687	protein_coding			hmmpanther:PTHR15992		S		T		732/3187							YES	HJURP,synonymous_variant,p.=,ENST00000411486,NM_018410.3;HJURP,synonymous_variant,p.=,ENST00000432087,NM_001282962.1;HJURP,synonymous_variant,p.=,ENST00000441687,NM_001282963.1;HJURP,synonymous_variant,p.=,ENST00000414924,;HJURP,synonymous_variant,p.=,ENST00000454020,;HJURP,non_coding_transcript_exon_variant,,ENST00000434039,;HJURP,upstream_gene_variant,,ENST00000433484,;HJURP,downstream_gene_variant,,ENST00000453122,;HJURP,downstream_gene_variant,,ENST00000373395,;							LOW	666/2247		HJURP_HUMAN			Transcript			.	ENSP00000414109		CCDS33406.1			1	
ACTL6B	0	LGGM	GRCh37	7	100252674	100252674	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	11	3	.	.	ENST00000160382.5:c.337A>C	p.Asn113His	p.N113H	ENST00000160382	NM_016188.4	113	Aac/Cac	0	1	1	UPI0000126725	0	getma.org/pdb.php?prot=ACL6B_HUMAN&from=8&to=426&var=N113H	ENST00000160382		ENSG00000077080	160		14	1.02		HGNC	p.N32H		ACTL6B		SNV							ENST00000461605	protein_coding	getma.org/?cm=var&var=hg19,7,100252674,T,G&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF196,SMART_domains:SM00268,Superfamily_domains:SSF53067		N/H		G	low	444/1537		getma.org/?cm=msa&ty=f&p=ACL6B_HUMAN&rb=8&re=426&var=N113H	tolerated(0.12)	C9JQT4_HUMAN			YES	ACTL6B,missense_variant,p.Asn113His,ENST00000160382,NM_016188.4;ACTL6B,missense_variant,p.Asn32His,ENST00000461605,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000485601,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000487225,;ACTL6B,non_coding_transcript_exon_variant,,ENST00000489904,;							MODERATE	337/1281	N113H	ACL6B_HUMAN			Transcript		benign(0.005)	.	ENSP00000160382		CCDS5702.1			1	
TMED7	0	LGGM	GRCh37	5	114961370	114961370	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	6	4	.	.	ENST00000282382.4:c.120G>A	p.Glu40=	p.E40=	ENST00000282382		40	gaG/gaA	0	1	1	UPI000007008A	0		ENST00000456936		ENSG00000134970	24253		10			HGNC	p.E40E		TMED7		SNV							ENST00000456936	protein_coding			hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF49,Pfam_domain:PF01105		E		T		501/3757				G3V2Y2_HUMAN,B4E2C1_HUMAN			YES	TMED7,synonymous_variant,p.=,ENST00000456936,NM_181836.5;TICAM2,synonymous_variant,p.=,ENST00000408996,NM_001164469.2,NM_001164468.2;TMED7-TICAM2,synonymous_variant,p.=,ENST00000282382,;TMED7-TICAM2,synonymous_variant,p.=,ENST00000333314,;TMED7,synonymous_variant,p.=,ENST00000508420,;TMED7,intron_variant,,ENST00000503010,;							LOW	120/675		TMED7_HUMAN			Transcript			.	ENSP00000405926		CCDS4120.1			1	
MME	0	LGGM	GRCh37	3	154834316	154834316	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	21	4	.	.	ENST00000460393.1:c.407C>A	p.Ala136Glu	p.A136E	ENST00000460393	NM_007287.2	136	gCa/gAa	0	1		UPI0000033C41	0	getma.org/pdb.php?prot=NEP_HUMAN&from=80&to=483&var=A136E	ENST00000360490		ENSG00000196549	7154		25	3		HGNC	p.A136E		MME		SNV							ENST00000360490	protein_coding	getma.org/?cm=var&var=hg19,3,154834316,C,A&fts=all		Superfamily_domains:SSF55486,Pfam_domain:PF05649,hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF114		A/E		A	medium	485/2360		getma.org/?cm=msa&ty=f&p=NEP_HUMAN&rb=80&re=483&var=A136E	deleterious(0)	C9JR96_HUMAN,C9JDZ3_HUMAN,C9J9X7_HUMAN,C9IYX7_HUMAN				MME,missense_variant,p.Ala136Glu,ENST00000460393,NM_007287.2,NM_000902.3;MME,missense_variant,p.Ala136Glu,ENST00000462745,NM_007288.2;MME,missense_variant,p.Ala136Glu,ENST00000492661,;MME,missense_variant,p.Ala136Glu,ENST00000493237,;MME,missense_variant,p.Ala136Glu,ENST00000360490,NM_007289.2;MME,missense_variant,p.Ala136Glu,ENST00000481828,;MME,missense_variant,p.Ala136Glu,ENST00000462837,;MME,downstream_gene_variant,,ENST00000473730,;MME,downstream_gene_variant,,ENST00000491026,;MME,downstream_gene_variant,,ENST00000477669,;							MODERATE	407/2253	A136E	NEP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353679		CCDS3172.1			1	
AACS	0	LGGM	GRCh37	12	125603298	125603298	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	5	4	.	.	ENST00000316519.6:c.1108G>T	p.Val370Phe	p.V370F	ENST00000316519	NM_023928.3	370	Gtt/Ttt	0	1	1	UPI0000049787	0	getma.org/pdb.php?prot=AACS_HUMAN&from=130&to=571&var=V370F	ENST00000316519		ENSG00000081760	21298		9	1.95		HGNC	p.V35F		AACS		SNV							ENST00000538851	protein_coding	getma.org/?cm=var&var=hg19,12,125603298,G,T&fts=all		hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Pfam_domain:PF00501,TIGRFAM_domain:TIGR01217,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		V/F		T	medium	1314/3316		getma.org/?cm=msa&ty=f&p=AACS_HUMAN&rb=130&re=571&var=V370F	deleterious(0.03)	Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN			YES	AACS,missense_variant,p.Val370Phe,ENST00000316519,NM_023928.3;AACS,missense_variant,p.Val370Phe,ENST00000261686,;AACS,missense_variant,p.Val189Phe,ENST00000441247,;AACS,missense_variant,p.Val35Phe,ENST00000538851,;AACS,5_prime_UTR_variant,,ENST00000316543,;AACS,intron_variant,,ENST00000539251,;AACS,upstream_gene_variant,,ENST00000545511,;							MODERATE	1108/2019	V370F	AACS_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000324842		CCDS9263.1			1	
AACS	0	LGGM	GRCh37	12	125603297	125603297	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	5	4	.	.	ENST00000316519.6:c.1107G>A	p.Leu369=	p.L369=	ENST00000316519	NM_023928.3	369	ctG/ctA	0	1	1	UPI0000049787	0		ENST00000316519		ENSG00000081760	21298		9			HGNC	p.L34L		AACS		SNV							ENST00000538851	protein_coding			hmmpanther:PTHR24095,hmmpanther:PTHR24095:SF46,Pfam_domain:PF00501,TIGRFAM_domain:TIGR01217,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		L		A		1313/3316				Q9H7A6_HUMAN,F5H6X9_HUMAN,F5H4V2_HUMAN,F5H3E3_HUMAN,F5GYN1_HUMAN			YES	AACS,synonymous_variant,p.=,ENST00000316519,NM_023928.3;AACS,synonymous_variant,p.=,ENST00000261686,;AACS,synonymous_variant,p.=,ENST00000441247,;AACS,synonymous_variant,p.=,ENST00000538851,;AACS,5_prime_UTR_variant,,ENST00000316543,;AACS,intron_variant,,ENST00000539251,;AACS,upstream_gene_variant,,ENST00000545511,;							LOW	1107/2019		AACS_HUMAN			Transcript			.	ENSP00000324842		CCDS9263.1			1	
IMP3	0	LGGM	GRCh37	15	75932352	75932352	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	2	4	.	.	ENST00000314852.2:c.158G>C	p.Arg53Pro	p.R53P	ENST00000314852		53	cGt/cCt	0	1	1	UPI0000037BF5	0	NA	ENST00000314852		ENSG00000177971	14497		6	1.865		HGNC	p.R53P		IMP3		SNV							ENST00000403490	protein_coding	getma.org/?cm=var&var=hg19,15,75932352,C,G&fts=all		hmmpanther:PTHR11831,hmmpanther:PTHR11831:SF1,Superfamily_domains:SSF55174		R/P		G	low	1102/2028		getma.org/?cm=msa&ty=f&p=IMP3_HUMAN&rb=1&re=108&var=R53P	deleterious(0.03)	Q96Q46_HUMAN			YES	IMP3,missense_variant,p.Arg53Pro,ENST00000314852,;IMP3,missense_variant,p.Arg53Pro,ENST00000403490,NM_018285.3;CTD-2026K11.2,downstream_gene_variant,,ENST00000564683,;IMP3,downstream_gene_variant,,ENST00000565349,;							MODERATE	158/555	R53P	IMP3_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000326981		CCDS10282.1			1	
RP1	0	LGGM	GRCh37	8	55542060	55542060	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	37	4	.	.	ENST00000220676.1:c.5618C>T	p.Ser1873Phe	p.S1873F	ENST00000220676	NM_006269.1	1873	tCt/tTt	0	1	1	UPI000013455B	0	NA	ENST00000220676		ENSG00000104237	10263		41	1.79		HGNC	p.S1873F		RP1		SNV			1				ENST00000220676	protein_coding	getma.org/?cm=var&var=hg19,8,55542060,C,T&fts=all		hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		S/F		T	low	5766/7100		getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=1736&re=1965&var=S1873F	tolerated(0.19)	A0FDN2_HUMAN			YES	RP1,missense_variant,p.Ser1873Phe,ENST00000220676,NM_006269.1;							MODERATE	5618/6471	S1873F	RP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000220676		CCDS6160.1			1	
RAP1B	0	LGGM	GRCh37	12	69047891	69047891	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	67	5	.	.	ENST00000250559.9:c.184-1G>A		p.X62_splice	ENST00000250559	NM_001251922.1			0	1	1	UPI0000001221	0		ENST00000250559		ENSG00000127314	9857		72			HGNC	-		RAP1B		SNV							ENST00000250559	protein_coding							A		-/2129				F8WBC0_HUMAN,F5H823_HUMAN,F5H6R7_HUMAN,F5H500_HUMAN,F5H4H0_HUMAN,F5H491_HUMAN,F5H0B7_HUMAN,F5H077_HUMAN,F5H004_HUMAN,F5GZG1_HUMAN,F5GYH7_HUMAN,F5GX62_HUMAN,F5GWU8_HUMAN,B7ZB78_HUMAN			YES	RAP1B,splice_acceptor_variant,,ENST00000250559,NM_001251922.1,NM_001251921.1,NM_015646.5,NM_001010942.2;RAP1B,splice_acceptor_variant,,ENST00000393436,;RAP1B,splice_acceptor_variant,,ENST00000450214,NM_001251917.1,NM_001251918.1;RAP1B,splice_acceptor_variant,,ENST00000540209,;RAP1B,splice_acceptor_variant,,ENST00000537460,;RAP1B,splice_acceptor_variant,,ENST00000378985,;RAP1B,splice_acceptor_variant,,ENST00000539091,;RAP1B,splice_acceptor_variant,,ENST00000543393,;RAP1B,splice_acceptor_variant,,ENST00000425247,;RAP1B,splice_acceptor_variant,,ENST00000543697,;RAP1B,splice_acceptor_variant,,ENST00000341355,;RAP1B,splice_acceptor_variant,,ENST00000541216,;RAP1B,splice_acceptor_variant,,ENST00000545270,;RAP1B,splice_acceptor_variant,,ENST00000542018,;RAP1B,splice_acceptor_variant,,ENST00000534899,;RAP1B,splice_acceptor_variant,,ENST00000538283,;RAP1B,splice_acceptor_variant,,ENST00000538980,;RAP1B,splice_acceptor_variant,,ENST00000540781,;RAP1B,splice_acceptor_variant,,ENST00000541167,;RAP1B,splice_acceptor_variant,,ENST00000545720,;RAP1B,splice_acceptor_variant,,ENST00000453560,;RAP1B,intron_variant,,ENST00000542145,;RAP1B,intron_variant,,ENST00000535492,;RAP1B,downstream_gene_variant,,ENST00000538877,;RAP1B,downstream_gene_variant,,ENST00000422358,;RAP1B,downstream_gene_variant,,ENST00000485252,;RAP1B,splice_acceptor_variant,,ENST00000463493,;RAP1B,downstream_gene_variant,,ENST00000460800,;RAP1B,splice_acceptor_variant,,ENST00000544639,;RAP1B,splice_acceptor_variant,,ENST00000541968,;RAP1B,downstream_gene_variant,,ENST00000501412,;							HIGH	184/555		RAP1B_HUMAN			Transcript			.	ENSP00000250559		CCDS8984.1			1	
KLK6	0	LGGM	GRCh37	19	51464999	51464999	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	25	5	.	.	ENST00000376851.3:c.582+1G>A		p.X194_splice	ENST00000376851	NM_001012964.1			0	1		UPI000004CA06	0		ENST00000310157		ENSG00000167755	6367		30			HGNC	-		KLK6		SNV							ENST00000310157	protein_coding							T		-/1511								KLK6,splice_donor_variant,,ENST00000376851,NM_001012964.1;KLK6,splice_donor_variant,,ENST00000310157,NM_002774.3;KLK6,splice_donor_variant,,ENST00000391808,NM_001012965.1;KLK6,splice_donor_variant,,ENST00000594641,;KLK6,splice_donor_variant,,ENST00000456750,;KLK6,intron_variant,,ENST00000376853,;KLK6,downstream_gene_variant,,ENST00000424910,;CTB-147C22.8,intron_variant,,ENST00000601506,;CTB-147C22.8,downstream_gene_variant,,ENST00000594939,;KLK6,splice_donor_variant,,ENST00000597379,;KLK6,splice_donor_variant,,ENST00000599690,;KLK6,splice_donor_variant,,ENST00000599881,;							HIGH	582/735		KLK6_HUMAN			Transcript			.	ENSP00000309148		CCDS12811.1			1	
GABRA2	0	LGGM	GRCh37	4	46252425	46252425	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	45	6	.	.	ENST00000510861.1:c.1256G>T	p.Arg419Ile	p.R419I	ENST00000510861		419	aGa/aTa	0	1		UPI000013DC88	0	getma.org/pdb.php?prot=GBRA2_HUMAN&from=343&to=437&var=R419I	ENST00000356504		ENSG00000151834	4076		51	1.275		HGNC	p.R424I	COSM1252945	GABRA2		SNV			1			1	ENST00000540012	protein_coding	getma.org/?cm=var&var=hg19,4,46252425,C,A&fts=all		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR01079,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860		R/I		A	low	1929/2770		getma.org/?cm=msa&ty=f&p=GBRA2_HUMAN&rb=343&re=437&var=R419I	deleterious(0.01)	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN				GABRA2,missense_variant,p.Arg419Ile,ENST00000510861,;GABRA2,missense_variant,p.Arg419Ile,ENST00000514090,;GABRA2,missense_variant,p.Arg419Ile,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Arg419Ile,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Arg424Ile,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Arg479Ile,ENST00000507069,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,3_prime_UTR_variant,,ENST00000513005,;					1		MODERATE	1256/1356	R419I	GBRA2_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000348897		CCDS3471.1			1	
ZSCAN10	0	LGGM	GRCh37	16	3141561	3141561	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	6	6	.	.	ENST00000252463.2:c.602C>T	p.Ala201Val	p.A201V	ENST00000252463	NM_032805.1	201	gCg/gTg	0	1	1	UPI000006F1B0	0	NA	ENST00000252463		ENSG00000130182	12997		12	0		HGNC	p.A201V	rs758487406	ZSCAN10		SNV							ENST00000576985	protein_coding	getma.org/?cm=var&var=hg19,16,3141561,G,A&fts=all		hmmpanther:PTHR24377:SF139,hmmpanther:PTHR24377		A/V		A	neutral	690/2467	1.50E-05	getma.org/?cm=msa&ty=f&p=ZSC10_HUMAN&rb=189&re=246&var=A201V	tolerated(0.2)	I3L1J3_HUMAN,I3L0Q3_HUMAN			YES	ZSCAN10,missense_variant,p.Ala201Val,ENST00000252463,NM_032805.1;ZSCAN10,missense_variant,p.Ala119Val,ENST00000538082,NM_001282416.1;ZSCAN10,missense_variant,p.Ala201Val,ENST00000576985,;ZSCAN10,5_prime_UTR_variant,,ENST00000575108,NM_001282415.1;ZSCAN10,3_prime_UTR_variant,,ENST00000572548,;ZSCAN10,5_prime_UTR_variant,,ENST00000572431,;ZSCAN10,downstream_gene_variant,,ENST00000576483,;RP11-473M20.9,upstream_gene_variant,,ENST00000571404,;RP11-473M20.9,upstream_gene_variant,,ENST00000574387,;ZSCAN10,downstream_gene_variant,,ENST00000573931,;ZSCAN10,non_coding_transcript_exon_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;							MODERATE	602/2178	A201V	ZSC10_HUMAN			Transcript		benign(0.002)	.	ENSP00000252463	8.24E-06	CCDS10493.1			1	
GNRHR	0	LGGM	GRCh37	4	68606382	68606382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	70	7	.	.	ENST00000226413.4:c.803T>A	p.Met268Lys	p.M268K	ENST00000226413	NM_000406.2	268	aTg/aAg	0	1	1	UPI000004EEC8	0		ENST00000226413		ENSG00000109163	4421		77			HGNC	p.N225K		GNRHR		SNV			1				ENST00000420975	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF22,Superfamily_domains:SSF81321		M/K		T		828/2164			deleterious(0)				YES	GNRHR,missense_variant,p.Met268Lys,ENST00000226413,NM_000406.2;GNRHR,missense_variant,p.Asn225Lys,ENST00000420975,NM_001012763.1;UBA6-AS1,intron_variant,,ENST00000500538,;UBA6-AS1,intron_variant,,ENST00000502758,;							MODERATE	803/987		GNRHR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000226413		CCDS3517.1			1	
AIRE	0	LGGM	GRCh37	21	45710745	45710745	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	7	7	.	.	ENST00000291582.5:c.880-233G>A		*294*	ENST00000291582	NM_000383.3			0	1	1	UPI0000030FA6	0	NA	ENST00000291582		ENSG00000160224	360		14	0		HGNC	p.R19Q	rs776581217	AIRE		SNV			1	9.80E-05			ENST00000355347	protein_coding	getma.org/?cm=var&var=hg19,21,45710745,G,A&fts=all						A	neutral	-/2257	3.05E-05	getma.org/?cm=msa&ty=f&p=C9JL37_HUMAN&rb=1&re=90&var=R19Q					YES	AIRE,missense_variant,p.Arg19Gln,ENST00000355347,;AIRE,missense_variant,p.Arg19Gln,ENST00000329347,;AIRE,intron_variant,,ENST00000291582,NM_000383.3;AIRE,non_coding_transcript_exon_variant,,ENST00000337909,;AIRE,non_coding_transcript_exon_variant,,ENST00000397994,;AIRE,intron_variant,,ENST00000530812,;AIRE,intron_variant,,ENST00000527919,;	0.000116						MODIFIER	-/1638	R19Q	AIRE_HUMAN			Transcript			.	ENSP00000291582	3.30E-05	CCDS13706.1			1	
CABIN1	0	LGGM	GRCh37	22	24483658	24483658	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	16	8	.	.	ENST00000398319.2:c.3517G>C	p.Val1173Leu	p.V1173L	ENST00000398319	NM_001199281.1	1173	Gtg/Ctg	0	1		UPI0000126D6C	0	NA	ENST00000263119		ENSG00000099991	24187		24	1.43		HGNC	p.V1123L		CABIN1		SNV							ENST00000405822	protein_coding	getma.org/?cm=var&var=hg19,22,24483658,G,C&fts=all		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7,Gene3D:1.25.40.10		V/L		C	low	3644/7222		getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=291&re=1359&var=V1173L	tolerated(0.14)					CABIN1,missense_variant,p.Val1173Leu,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Val1173Leu,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Val1123Leu,ENST00000405822,;CABIN1,non_coding_transcript_exon_variant,,ENST00000496016,;							MODERATE	3517/6663	V1173L	CABIN_HUMAN			Transcript		benign(0.01)	.	ENSP00000263119		CCDS13823.1			1	
CDH9	0	LGGM	GRCh37	5	26889947	26889947	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	10	8	.	.	ENST00000231021.4:c.1510C>A	p.Gln504Lys	p.Q504K	ENST00000231021	NM_016279.3	504	Cag/Aag	0	1	1	UPI000013C945	0	NA	ENST00000231021		ENSG00000113100	1768		18	2.365		HGNC	p.Q504K		CDH9		SNV							ENST00000231021	protein_coding	getma.org/?cm=var&var=hg19,5,26889947,G,T&fts=all		Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268		Q/K		T	medium	1683/3079		getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=492&re=589&var=Q504K	tolerated(0.05)	E7EPN0_HUMAN,D6RBT9_HUMAN			YES	CDH9,missense_variant,p.Gln504Lys,ENST00000231021,NM_016279.3;CDH9,splice_region_variant,,ENST00000505020,;							MODERATE	1510/2370	Q504K	CADH9_HUMAN			Transcript		benign(0.171)	.	ENSP00000231021		CCDS3893.1			1	
TCF7L1	0	LGGM	GRCh37	2	85534829	85534829	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	15	8	.	.	ENST00000282111.3:c.1322A>G	p.Gln441Arg	p.Q441R	ENST00000282111	NM_031283.2	441	cAg/cGg	0	1	1	UPI0000136846	0	NA	ENST00000282111		ENSG00000152284	11640		23	0.345		HGNC	p.Q441R		TCF7L1		SNV							ENST00000282111	protein_coding	getma.org/?cm=var&var=hg19,2,85534829,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10373,hmmpanther:PTHR10373:SF25		Q/R		G	neutral	1597/2968		getma.org/?cm=msa&ty=f&p=TF7L1_HUMAN&rb=415&re=588&var=Q441R	tolerated(0.14)	Q53T87_HUMAN,C9JPE3_HUMAN			YES	TCF7L1,missense_variant,p.Gln441Arg,ENST00000282111,NM_031283.2;TCF7L1,downstream_gene_variant,,ENST00000490744,;							MODERATE	1322/1767	Q441R	TF7L1_HUMAN			Transcript		benign(0.01)	.	ENSP00000282111		CCDS1971.1			1	
KLF3	0	LGGM	GRCh37	4	38698809	38698809	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	35	10	.	.	ENST00000261438.5:c.963G>A	p.Gln321=	p.Q321=	ENST00000261438	NM_016531.5	321	caG/caA	0	1	1	UPI000012DED5	0		ENST00000261438		ENSG00000109787	16516		45			HGNC	p.Q321Q	rs770574210	KLF3	6.06E-05	SNV							ENST00000261438	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR23223:SF3,hmmpanther:PTHR23223,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q		A		1268/5122							YES	KLF3,synonymous_variant,p.=,ENST00000261438,NM_016531.5;							LOW	963/1038		KLF3_HUMAN			Transcript			.	ENSP00000261438	8.24E-06	CCDS3444.1			1	
DENND6A	0	LGGM	GRCh37	3	57616224	57616224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	13	10	.	.	ENST00000311128.5:c.1544A>G	p.Asp515Gly	p.D515G	ENST00000311128	NM_152678.2	515	gAt/gGt	0	1	1	UPI00000744F6	0	NA	ENST00000311128		ENSG00000174839	26635		23	1.95		HGNC	p.D515G	rs770188496	DENND6A	6.26E-05	SNV							ENST00000311128	protein_coding	getma.org/?cm=var&var=hg19,3,57616224,T,C&fts=all		hmmpanther:PTHR13677,hmmpanther:PTHR13677:SF1		D/G		C	medium	1615/4655		getma.org/?cm=msa&ty=f&p=F116A_HUMAN&rb=379&re=578&var=D515G	deleterious(0.02)				YES	DENND6A,missense_variant,p.Asp515Gly,ENST00000311128,NM_152678.2;DENND6A,missense_variant,p.Asp87Gly,ENST00000471531,;DENND6A,downstream_gene_variant,,ENST00000477344,;RP11-755B10.2,intron_variant,,ENST00000470427,;DENND6A,downstream_gene_variant,,ENST00000480710,;							MODERATE	1544/1827	D515G	DEN6A_HUMAN			Transcript		benign(0.272)	.	ENSP00000311401	8.24E-06	CCDS33773.1			1	
NUP205	0	LGGM	GRCh37	7	135262738	135262738	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	17	10	.	.	ENST00000285968.6:c.843C>T	p.Ile281=	p.I281=	ENST00000285968	NM_015135.2	281	atC/atT	0	1	1	UPI00001D74D8	0		ENST00000285968		ENSG00000155561	18658		27			HGNC	p.I75I	COSM1312705	NUP205		SNV						1	ENST00000440390	protein_coding			hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344,Pfam_domain:PF11894		I		T		869/6266				Q6P486_HUMAN,Q6DKH1_HUMAN			YES	NUP205,synonymous_variant,p.=,ENST00000285968,NM_015135.2;NUP205,synonymous_variant,p.=,ENST00000440390,;NUP205,downstream_gene_variant,,ENST00000489493,;					1		LOW	843/6039		NU205_HUMAN			Transcript			.	ENSP00000285968		CCDS34759.1			1	
IL17RD	0	LGGM	GRCh37	3	57136570	57136570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	20	10	.	.	ENST00000296318.7:c.916C>T	p.Pro306Ser	p.P306S	ENST00000296318	NM_017563.3	306	Cca/Tca	0	1	1	UPI0000047CC3	0	NA	ENST00000296318		ENSG00000144730	17616		30	1.04		HGNC	p.P162S		IL17RD		SNV			1				ENST00000320057	protein_coding	getma.org/?cm=var&var=hg19,3,57136570,G,A&fts=all		hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8		P/S		A	low	1005/8720		getma.org/?cm=msa&ty=f&p=I17RD_HUMAN&rb=201&re=355&var=P306S	tolerated(0.08)	C9J6R0_HUMAN			YES	IL17RD,missense_variant,p.Pro306Ser,ENST00000296318,NM_017563.3;IL17RD,missense_variant,p.Pro162Ser,ENST00000320057,;IL17RD,missense_variant,p.Pro282Ser,ENST00000427856,;IL17RD,missense_variant,p.Pro162Ser,ENST00000463523,;IL17RD,downstream_gene_variant,,ENST00000467210,;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,;							MODERATE	916/2220	P306S	I17RD_HUMAN			Transcript		probably_damaging(0.941)	.	ENSP00000296318		CCDS2880.2			1	
KEAP1	0	LGGM	GRCh37	19	10610265	10610265	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	6	12	.	.	ENST00000171111.5:c.445G>A	p.Glu149Lys	p.E149K	ENST00000171111	NM_203500.1	149	Gag/Aag	0	1	1	UPI000007139C	0	getma.org/pdb.php?prot=KEAP1_HUMAN&from=67&to=179&var=E149K	ENST00000171111		ENSG00000079999	23177		18	1.61		HGNC	p.E149K		KEAP1		SNV							ENST00000591419	protein_coding	getma.org/?cm=var&var=hg19,19,10610265,C,T&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695		E/K		T	low	993/2955		getma.org/?cm=msa&ty=f&p=KEAP1_HUMAN&rb=67&re=179&var=E149K	deleterious(0)	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,missense_variant,p.Glu149Lys,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Glu149Lys,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Glu149Lys,ENST00000591419,;KEAP1,missense_variant,p.Glu149Lys,ENST00000592055,;KEAP1,missense_variant,p.Glu149Lys,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,splice_region_variant,,ENST00000585845,;							MODERATE	445/1875	E149K	KEAP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000171111		CCDS12239.1			1	
DNAJC10	0	LGGM	GRCh37	2	183623572	183623572	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	17	12	.	.	ENST00000264065.7:c.1952A>T	p.Asn651Ile	p.N651I	ENST00000264065	NM_018981.2	651	aAt/aTt	0	1	1	UPI000007376C	0	getma.org/pdb.php?prot=DJC10_HUMAN&from=557&to=660&var=N651I	ENST00000264065		ENSG00000077232	24637		29	3.03		HGNC	p.N651I		DNAJC10		SNV							ENST00000264065	protein_coding	getma.org/?cm=var&var=hg19,2,183623572,A,T&fts=all		PROSITE_profiles:PS51352,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF3,Gene3D:3.40.30.10,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833		N/I		T	medium	2367/20129		getma.org/?cm=msa&ty=f&p=DJC10_HUMAN&rb=557&re=660&var=N651I	deleterious(0)	Q8N4C5_HUMAN			YES	DNAJC10,missense_variant,p.Asn651Ile,ENST00000264065,NM_018981.2,NM_001271581.1;DNAJC10,3_prime_UTR_variant,,ENST00000418559,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;							MODERATE	1952/2382	N651I	DJC10_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000264065		CCDS33345.1			1	
SH3PXD2A	0	LGGM	GRCh37	10	105365640	105365640	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	12	12	.	.	ENST00000355946.2:c.1259C>T	p.Ser420Phe	p.S420F	ENST00000355946	NM_014631.2	420	tCt/tTt	0	1		UPI000046FCE8	0	getma.org/pdb.php?prot=SPD2A_HUMAN&from=448&to=507&var=S448F	ENST00000369774		ENSG00000107957	23664		24	0.345		HGNC	p.S315F		SH3PXD2A		SNV							ENST00000540321	protein_coding	getma.org/?cm=var&var=hg19,10,105365640,G,A&fts=all		Gene3D:2.30.30.40,PROSITE_profiles:PS50002,hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7,Low_complexity_(Seg):seg,Superfamily_domains:SSF50044		S/F		A	neutral	1620/11468		getma.org/?cm=msa&ty=f&p=SPD2A_HUMAN&rb=448&re=507&var=S448F	tolerated(0.06)	F5GZ35_HUMAN				SH3PXD2A,missense_variant,p.Ser448Phe,ENST00000369774,;SH3PXD2A,missense_variant,p.Ser420Phe,ENST00000355946,NM_014631.2;SH3PXD2A,missense_variant,p.Ser375Phe,ENST00000420222,;SH3PXD2A,missense_variant,p.Ser315Phe,ENST00000540321,;SH3PXD2A,missense_variant,p.Ser283Phe,ENST00000538130,;SH3PXD2A,intron_variant,,ENST00000427662,;RP11-416N2.4,upstream_gene_variant,,ENST00000609691,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;							MODERATE	1343/3402	S448F	SPD2A_HUMAN			Transcript		possibly_damaging(0.61)	.	ENSP00000358789					1	
SH3TC2	0	LGGM	GRCh37	5	148392209	148392209	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	7	13	.	.	ENST00000515425.1:c.3142C>T	p.Leu1048Phe	p.L1048F	ENST00000515425	NM_024577.3	1048	Ctt/Ttt	0	1	1	UPI00001DFBEE	0	getma.org/pdb.php?prot=S3TC2_HUMAN&from=909&to=1108&var=L1048F	ENST00000515425		ENSG00000169247	29427		20	2.275		HGNC	p.L1041F		SH3TC2		SNV			1				ENST00000512049	protein_coding	getma.org/?cm=var&var=hg19,5,148392209,G,A&fts=all		Superfamily_domains:SSF48452,SMART_domains:SM00028,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2		L/F		A	medium	3244/4059		getma.org/?cm=msa&ty=f&p=S3TC2_HUMAN&rb=909&re=1108&var=L1048F	deleterious(0)	B3KXB9_HUMAN			YES	SH3TC2,missense_variant,p.Leu595Phe,ENST00000538184,;SH3TC2,missense_variant,p.Leu1048Phe,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Leu1041Phe,ENST00000512049,;SH3TC2,upstream_gene_variant,,ENST00000502274,;SH3TC2,upstream_gene_variant,,ENST00000515229,;SH3TC2,missense_variant,p.Leu1048Phe,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;							MODERATE	3142/3867	L1048F	S3TC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000423660		CCDS4293.1			1	
ZNF474	0	LGGM	GRCh37	5	121488544	121488544	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	13	13	.	.	ENST00000296600.4:c.859T>G	p.Cys287Gly	p.C287G	ENST00000296600	NM_207317.1	287	Tgc/Ggc	0	1	1	UPI0000160642	0	NA	ENST00000296600		ENSG00000164185	23245		26	3.14		HGNC	p.C287G		ZNF474		SNV							ENST00000296600	protein_coding	getma.org/?cm=var&var=hg19,5,121488544,T,G&fts=all		Pfam_domain:PF13913,hmmpanther:PTHR13555,hmmpanther:PTHR13555:SF23		C/G		G	medium	1242/1964		getma.org/?cm=msa&ty=f&p=ZN474_HUMAN&rb=263&re=327&var=C287G	deleterious(0)	D6RFM9_HUMAN,D6RCA7_HUMAN			YES	ZNF474,missense_variant,p.Cys287Gly,ENST00000296600,NM_207317.1;ZNF474,downstream_gene_variant,,ENST00000505843,;ZNF474,downstream_gene_variant,,ENST00000504912,;CTC-441N14.2,intron_variant,,ENST00000504829,;CTC-441N14.1,downstream_gene_variant,,ENST00000505209,;ZNF474,intron_variant,,ENST00000514925,;CTC-441N14.4,upstream_gene_variant,,ENST00000515596,;							MODERATE	859/1095	C287G	ZN474_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296600		CCDS4130.1			1	
EPHA3	0	LGGM	GRCh37	3	89156931	89156931	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	30	14	.	.	ENST00000336596.2:c.33C>A	p.Leu11=	p.L11=	ENST00000336596	NM_005233.5	11	ctC/ctA	0	1	1	UPI0000163BE4	0		ENST00000336596		ENSG00000044524	3387		44			HGNC	p.L11L		EPHA3		SNV			1				ENST00000494014	protein_coding			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666		L		A		258/5809							YES	EPHA3,synonymous_variant,p.=,ENST00000336596,NM_005233.5;EPHA3,synonymous_variant,p.=,ENST00000494014,;EPHA3,synonymous_variant,p.=,ENST00000452448,NM_182644.2;							LOW	33/2952		EPHA3_HUMAN			Transcript			.	ENSP00000337451		CCDS2922.1			1	
EPHA3	0	LGGM	GRCh37	3	89156930	89156930	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	30	14	.	.	ENST00000336596.2:c.32T>A	p.Leu11His	p.L11H	ENST00000336596	NM_005233.5	11	cTc/cAc	0	1	1	UPI0000163BE4	0	NA	ENST00000336596		ENSG00000044524	3387		44	0.69		HGNC	p.L11H		EPHA3		SNV			1				ENST00000494014	protein_coding	getma.org/?cm=var&var=hg19,3,89156930,T,A&fts=all		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666		L/H		A	neutral	257/5809		getma.org/?cm=msa&ty=f&p=EPHA3_HUMAN&rb=1&re=58&var=L11H	tolerated(0.19)				YES	EPHA3,missense_variant,p.Leu11His,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Leu11His,ENST00000494014,;EPHA3,missense_variant,p.Leu11His,ENST00000452448,NM_182644.2;							MODERATE	32/2952	L11H	EPHA3_HUMAN			Transcript		benign(0.061)	.	ENSP00000337451		CCDS2922.1			1	
CAPN5	0	LGGM	GRCh37	11	76834826	76834826	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	18	15	.	.	ENST00000278559.3:c.1833C>T	p.His611=	p.H611=	ENST00000278559	NM_004055.4	611	caC/caT	0	1	1	UPI0000126E9F	0		ENST00000278559		ENSG00000149260	1482		33			HGNC	p.H651H		CAPN5		SNV			1				ENST00000456580	protein_coding			Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150		H		T		2022/4397				E9PS73_HUMAN			YES	CAPN5,synonymous_variant,p.=,ENST00000278559,NM_004055.4;CAPN5,synonymous_variant,p.=,ENST00000456580,;CAPN5,synonymous_variant,p.=,ENST00000529629,;CAPN5,3_prime_UTR_variant,,ENST00000531028,;MYO7A,upstream_gene_variant,,ENST00000409709,NM_000260.3;MYO7A,upstream_gene_variant,,ENST00000458637,NM_001127180.1;MYO7A,upstream_gene_variant,,ENST00000409619,;MYO7A,upstream_gene_variant,,ENST00000409893,NM_001127179.2;CAPN5,non_coding_transcript_exon_variant,,ENST00000527129,;							LOW	1833/1923		CAN5_HUMAN			Transcript			.	ENSP00000278559		CCDS8248.1			1	
UNC13C	0	LGGM	GRCh37	15	54306209	54306209	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	26	15	.	.	ENST00000260323.11:c.1109C>A	p.Pro370Gln	p.P370Q	ENST00000260323	NM_001080534.1	370	cCa/cAa	0	1	1	UPI0000DD82AB	0	NA	ENST00000260323		ENSG00000137766	23149		41	0.695		HGNC	p.P370Q		UNC13C		SNV							ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54306209,C,A&fts=all		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		P/Q		A	neutral	1109/8131		getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=201&re=400&var=P370Q	deleterious_low_confidence(0)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Pro370Gln,ENST00000545554,;UNC13C,missense_variant,p.Pro370Gln,ENST00000537900,;UNC13C,missense_variant,p.Pro370Gln,ENST00000260323,NM_001080534.1;							MODERATE	1109/6645	P370Q	UN13C_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000260323		CCDS45264.1			1	
ATP10A	0	LGGM	GRCh37	15	25947065	25947065	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	22	15	.	.	ENST00000356865.6:c.2758C>G	p.Gln920Glu	p.Q920E	ENST00000356865	NM_024490.3	920	Cag/Gag	0	1	1	UPI0000124FAB	0	getma.org/pdb.php?prot=AT10A_HUMAN&from=424&to=1040&var=Q920E	ENST00000356865		ENSG00000206190	13542		37	0.43		HGNC	p.Q920E		ATP10A		SNV			1				ENST00000356865	protein_coding	getma.org/?cm=var&var=hg19,15,25947065,G,C&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Gene3D:3.40.50.1000,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784		Q/E		C	neutral	2870/6680		getma.org/?cm=msa&ty=f&p=AT10A_HUMAN&rb=424&re=1040&var=Q920E	tolerated(0.06)				YES	ATP10A,missense_variant,p.Gln920Glu,ENST00000356865,NM_024490.3;ATP10A,splice_region_variant,,ENST00000555815,;							MODERATE	2758/4500	Q920E	AT10A_HUMAN			Transcript		benign(0.023)	.	ENSP00000349325		CCDS32178.1			1	
TNFRSF13B	0	LGGM	GRCh37	17	16852266	16852266	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	4	15	.	.	ENST00000261652.2:c.231G>T	p.Lys77Asn	p.K77N	ENST00000261652	NM_012452.2	77	aaG/aaT	0	1	1	UPI00000347FC	0	getma.org/pdb.php?prot=TR13B_HUMAN&from=69&to=109&var=K77N	ENST00000261652		ENSG00000240505	18153		19	0		HGNC	p.K77N		TNFRSF13B		SNV			1				ENST00000579315	protein_coding	getma.org/?cm=var&var=hg19,17,16852266,C,A&fts=all		hmmpanther:PTHR15511,hmmpanther:PTHR15511:SF2,Pfam_domain:PF09305,Superfamily_domains:SSF57586,Prints_domain:PR01963		K/N		A	neutral	244/1357		getma.org/?cm=msa&ty=f&p=TR13B_HUMAN&rb=69&re=109&var=K77N	deleterious(0.05)	Q4ACX1_HUMAN			YES	TNFRSF13B,missense_variant,p.Lys31Asn,ENST00000437538,;TNFRSF13B,missense_variant,p.Lys77Asn,ENST00000261652,NM_012452.2;TNFRSF13B,missense_variant,p.Lys31Asn,ENST00000583789,;TNFRSF13B,missense_variant,p.Lys77Asn,ENST00000579315,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000581616,;TNFRSF13B,missense_variant,p.Lys31Asn,ENST00000584950,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000582931,;							MODERATE	231/882	K77N	TR13B_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000261652		CCDS11181.1			1	
IREB2	0	LGGM	GRCh37	15	78778100	78778100	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	30	16	.	.	ENST00000258886.8:c.1627A>T	p.Arg543Ter	p.R543*	ENST00000258886	NM_004136.2	543	Aga/Tga	0	1	1	UPI00001C1F8E	0	NA	ENST00000258886		ENSG00000136381	6115		46	0		HGNC	p.R543X		IREB2		SNV							ENST00000258886	protein_coding	getma.org/?cm=var&var=hg19,15,78778100,A,T&fts=all		hmmpanther:PTHR11670:SF31,hmmpanther:PTHR11670,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Gene3D:3.30.499.10,Superfamily_domains:SSF53732		R/*		T	NA	1776/6354		NA		H0YLE0_HUMAN			YES	IREB2,stop_gained,p.Arg543Ter,ENST00000258886,NM_004136.2;RP11-650L12.1,upstream_gene_variant,,ENST00000560094,;IREB2,3_prime_UTR_variant,,ENST00000558570,;IREB2,non_coding_transcript_exon_variant,,ENST00000559676,;							HIGH	1627/2892	R543*	IREB2_HUMAN			Transcript			.	ENSP00000258886		CCDS10302.1			1	
CES1	0	LGGM	GRCh37	16	55846838	55846838	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	40	16	.	.	ENST00000360526.3:c.1063G>T	p.Glu355Ter	p.E355*	ENST00000360526	NM_001266.4	355	Gag/Tag	0	1		UPI000004A443	0	NA	ENST00000361503		ENSG00000198848	1863		56	0		HGNC	p.E354X		CES1		SNV			1				ENST00000422046	protein_coding	getma.org/?cm=var&var=hg19,16,55846838,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF179,Superfamily_domains:SSF53474		E/*		A	NA	1191/1835		NA		B7Z795_HUMAN				CES1,stop_gained,p.Glu354Ter,ENST00000422046,;CES1,stop_gained,p.Glu355Ter,ENST00000360526,NM_001266.4,NM_001025195.1,NM_001025194.1;CES1,stop_gained,p.Glu354Ter,ENST00000361503,;CES1,upstream_gene_variant,,ENST00000563241,;CES1,stop_gained,p.Glu17Ter,ENST00000565568,;CES1,stop_gained,p.Glu69Ter,ENST00000569260,;							HIGH	1060/1704	E354*	EST1_HUMAN			Transcript			.	ENSP00000355193		CCDS45488.1			1	
MS4A4E	0	LGGM	GRCh37	11	59997520	59997520	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	36	17	.	.	ENST00000425663.1:c.9C>T	p.Thr3=	p.T3=	ENST00000425663		3	acC/acT	0	1		UPI000173AA12	0		ENST00000398984		ENSG00000214787	14284		53			HGNC	p.T3T		MS4A4E		SNV							ENST00000425663	protein_coding			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF35		T		A		9/479								MS4A4E,synonymous_variant,p.=,ENST00000528394,;MS4A4E,synonymous_variant,p.=,ENST00000398984,;MS4A4E,synonymous_variant,p.=,ENST00000526086,;MS4A4E,synonymous_variant,p.=,ENST00000398986,;MS4A4E,synonymous_variant,p.=,ENST00000425663,;MS4A4E,5_prime_UTR_variant,,ENST00000427611,;MS4A4E,synonymous_variant,p.=,ENST00000532442,;MS4A4E,upstream_gene_variant,,ENST00000526153,;							LOW	9/399		M4A4E_HUMAN			Transcript			.	ENSP00000381954					1	
RARS	0	LGGM	GRCh37	5	167929033	167929033	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	24	18	.	.	ENST00000231572.3:c.980A>G	p.Asp327Gly	p.D327G	ENST00000231572	NM_002887.3	327	gAc/gGc	0	1	1	UPI0000136648	0	getma.org/pdb.php?prot=SYRC_HUMAN&from=174&to=520&var=D327G	ENST00000231572		ENSG00000113643	9870		42	0.45		HGNC	p.D327G		RARS		SNV							ENST00000231572	protein_coding	getma.org/?cm=var&var=hg19,5,167929033,A,G&fts=all		Superfamily_domains:SSF52374,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00456,Pfam_domain:PF00750,hmmpanther:PTHR11956:SF1,hmmpanther:PTHR11956,HAMAP:MF_00123		D/G		G	neutral	1034/2146		getma.org/?cm=msa&ty=f&p=SYRC_HUMAN&rb=174&re=520&var=D327G	tolerated(0.35)	F5H3T8_HUMAN			YES	RARS,missense_variant,p.Asp327Gly,ENST00000231572,NM_002887.3;RARS,missense_variant,p.Asp121Gly,ENST00000538719,;RARS,non_coding_transcript_exon_variant,,ENST00000520421,;RARS,3_prime_UTR_variant,,ENST00000520013,;RARS,non_coding_transcript_exon_variant,,ENST00000518757,;							MODERATE	980/1983	D327G	SYRC_HUMAN			Transcript		benign(0.015)	.	ENSP00000231572		CCDS4367.1			1	
MTRR	0	LGGM	GRCh37	5	7897064	7897064	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	20	18	.	.	ENST00000264668.2:c.1845A>C	p.Leu615=	p.L615=	ENST00000264668	NM_024010.2	615	ctA/ctC	0	1	1	UPI000013D550	0		ENST00000264668		ENSG00000124275	7473		38			HGNC	p.L615L		MTRR		SNV			1				ENST00000264668	protein_coding			Gene3D:3.40.50.80,Pfam_domain:PF00175,Prints_domain:PR00371,hmmpanther:PTHR19384,hmmpanther:PTHR19384:SF65,Superfamily_domains:SSF52343		L		C		1875/3274				D6RIS8_HUMAN,D6RGC7_HUMAN,D6RAZ2_HUMAN			YES	MTRR,synonymous_variant,p.=,ENST00000264668,NM_024010.2,NM_002454.2;MTRR,synonymous_variant,p.=,ENST00000440940,;MTRR,upstream_gene_variant,,ENST00000506115,;MTRR,upstream_gene_variant,,ENST00000509379,;MTRR,downstream_gene_variant,,ENST00000507414,;MTRR,3_prime_UTR_variant,,ENST00000510525,;MTRR,3_prime_UTR_variant,,ENST00000511461,;MTRR,3_prime_UTR_variant,,ENST00000513439,;MTRR,non_coding_transcript_exon_variant,,ENST00000508354,;MTRR,downstream_gene_variant,,ENST00000507202,;MTRR,downstream_gene_variant,,ENST00000512311,;							LOW	1845/2178		MTRR_HUMAN			Transcript			.	ENSP00000264668		CCDS3874.1			1	
RBM12B	0	LGGM	GRCh37	8	94746798	94746798	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	38	18	.	.	ENST00000399300.2:c.1841C>T	p.Pro614Leu	p.P614L	ENST00000399300	NM_203390.2	614	cCt/cTt	0	1	1	UPI0000E9B14C	0	NA	ENST00000399300		ENSG00000183808	32310		56	0.695		HGNC	p.P614L		RBM12B		SNV							ENST00000399300	protein_coding	getma.org/?cm=var&var=hg19,8,94746798,G,A&fts=all		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28		P/L		A	neutral	2055/7269		getma.org/?cm=msa&ty=f&p=RB12B_HUMAN&rb=469&re=668&var=P614L	deleterious_low_confidence(0.04)	E5RJW8_HUMAN,E5RJV8_HUMAN,E5RJ83_HUMAN,E5RHG1_HUMAN			YES	RBM12B,missense_variant,p.Pro614Leu,ENST00000399300,NM_203390.2;RBM12B,missense_variant,p.Pro614Leu,ENST00000517700,;FAM92A1,downstream_gene_variant,,ENST00000518322,NM_145269.3;RBM12B,downstream_gene_variant,,ENST00000519109,;RBM12B,downstream_gene_variant,,ENST00000520560,;RBM12B,downstream_gene_variant,,ENST00000518597,;RBM12B,downstream_gene_variant,,ENST00000521947,;RP11-10N23.4,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,;							MODERATE	1841/3006	P614L	RB12B_HUMAN			Transcript		benign(0.007)	.	ENSP00000382239		CCDS43755.1			1	
FREM2	0	LGGM	GRCh37	13	39425908	39425908	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	5	18	.	.	ENST00000280481.7:c.6828G>T	p.Val2276=	p.V2276=	ENST00000280481	NM_207361.4	2276	gtG/gtT	0	1	1	UPI00005520B9	0		ENST00000280481		ENSG00000150893	25396		23			HGNC	p.V2276V		FREM2		SNV			1				ENST00000280481	protein_coding			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		V		T		7044/14876							YES	FREM2,synonymous_variant,p.=,ENST00000280481,NM_207361.4;FREM2,downstream_gene_variant,,ENST00000482551,;							LOW	6828/9510		FREM2_HUMAN			Transcript			.	ENSP00000280481		CCDS31960.1			1	
MAP1A	0	LGGM	GRCh37	15	43818320	43818320	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	32	19	.	.	ENST00000300231.5:c.4649C>A	p.Ala1550Asp	p.A1550D	ENST00000300231		1550	gCc/gAc	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		51	1.935		HGNC	p.A1788D		MAP1A		SNV							ENST00000382031	protein_coding	getma.org/?cm=var&var=hg19,15,43818320,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		A/D		A	medium	5099/10258		getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=1393&re=1577&var=A1550D					YES	MAP1A,missense_variant,p.Ala1788Asp,ENST00000382031,;MAP1A,missense_variant,p.Ala1550Asp,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Ala1550Asp,ENST00000300231,;							MODERATE	4649/8412	A1550D	MAP1A_HUMAN			Transcript		benign(0.009)	.	ENSP00000300231		CCDS42031.1			1	
ZMAT1	0	LGGM	GRCh37	X	101138986	101138986	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	5	20	.	.	ENST00000372782.3:c.1413A>T	p.Pro471=	p.P471=	ENST00000372782	NM_001011657.3	471	ccA/ccT	0	1	1	UPI0000198414	0		ENST00000372782		ENSG00000166432	29377		25			HGNC	p.P471P		ZMAT1		SNV							ENST00000540921	protein_coding			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF14		P		A		1461/3185							YES	ZMAT1,synonymous_variant,p.=,ENST00000372782,NM_001011657.3;ZMAT1,synonymous_variant,p.=,ENST00000458570,NM_001282401.1;ZMAT1,synonymous_variant,p.=,ENST00000540921,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000494068,;ZMAT1,non_coding_transcript_exon_variant,,ENST00000488347,;ZMAT1,downstream_gene_variant,,ENST00000490757,;							LOW	1413/1917		ZMAT1_HUMAN			Transcript			.	ENSP00000361868		CCDS35348.1			1	
TGFB3	0	LGGM	GRCh37	14	76447228	76447228	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	23	20	.	.	ENST00000238682.3:c.9G>A	p.Met3Ile	p.M3I	ENST00000238682	NM_003239.2	3	atG/atA	0	1	1	UPI000000D8EC	0	NA	ENST00000238682		ENSG00000119699	11769		43	2.08		HGNC	p.M3I		TGFB3		SNV			1				ENST00000556285	protein_coding	getma.org/?cm=var&var=hg19,14,76447228,C,T&fts=all		PIRSF_domain:PIRSF001787,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF34,Cleavage_site_(Signalp):SignalP-noTM		M/I		T	medium	307/2522		getma.org/?cm=msa&ty=f&p=TGFB3_HUMAN&rb=1&re=40&var=M3I	deleterious_low_confidence(0)	Q8WV88_HUMAN,Q6TV16_HUMAN,Q6TV15_HUMAN,Q6TV14_HUMAN,Q6LDJ6_HUMAN,A5YM40_HUMAN			YES	TGFB3,missense_variant,p.Met3Ile,ENST00000238682,NM_003239.2;TGFB3,missense_variant,p.Met3Ile,ENST00000556285,;IFT43,upstream_gene_variant,,ENST00000556742,NM_001255995.1;IFT43,upstream_gene_variant,,ENST00000314067,NM_001102564.1;IFT43,upstream_gene_variant,,ENST00000238628,NM_052873.2;TGFB3,non_coding_transcript_exon_variant,,ENST00000555193,;TGFB3,downstream_gene_variant,,ENST00000556674,;IFT43,upstream_gene_variant,,ENST00000553338,;IFT43,intron_variant,,ENST00000555677,;IFT43,upstream_gene_variant,,ENST00000555305,;IFT43,upstream_gene_variant,,ENST00000554026,;IFT43,upstream_gene_variant,,ENST00000542766,;IFT43,upstream_gene_variant,,ENST00000555370,;							MODERATE	9/1239	M3I	TGFB3_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000238682		CCDS9846.1			1	
ARHGAP28	0	LGGM	GRCh37	18	6824762	6824762	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	32	20	.	.	ENST00000383472.4:c.124A>T	p.Lys42Ter	p.K42*	ENST00000383472		42	Aaa/Taa	0	1		UPI0001E5E846	0		ENST00000383472		ENSG00000088756	25509		52			HGNC	p.K42X		ARHGAP28		SNV							ENST00000383472	protein_coding			hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5		K/*		T		228/2295				J3KTC0_HUMAN,E9PL26_HUMAN				ARHGAP28,stop_gained,p.Lys42Ter,ENST00000400091,;ARHGAP28,stop_gained,p.Lys42Ter,ENST00000383472,;ARHGAP28,stop_gained,p.Lys7Ter,ENST00000583410,;ARHGAP28,stop_gained,p.Lys15Ter,ENST00000584387,;ARHGAP28,splice_region_variant,,ENST00000262227,;ARHGAP28,splice_region_variant,,ENST00000532723,;							HIGH	124/2190		RHG28_HUMAN			Transcript			.	ENSP00000372964					1	
CCNT1	0	LGGM	GRCh37	12	49088103	49088103	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	17	22	.	.	ENST00000261900.3:c.894T>C	p.Gly298=	p.G298=	ENST00000261900	NM_001240.3	298	ggT/ggC	0	1	1	UPI0000044259	0		ENST00000261900		ENSG00000129315	1599		39			HGNC	p.G298G		CCNT1		SNV							ENST00000261900	protein_coding			hmmpanther:PTHR10026,hmmpanther:PTHR10026:SF42		G		G		1117/6973							YES	CCNT1,synonymous_variant,p.=,ENST00000261900,NM_001240.3,NM_001277842.1;CCNT1,3_prime_UTR_variant,,ENST00000417344,;CCNT1,non_coding_transcript_exon_variant,,ENST00000551989,;							LOW	894/2181		CCNT1_HUMAN			Transcript			.	ENSP00000261900		CCDS8766.1			1	
RPRD1A	0	LGGM	GRCh37	18	33605570	33605570	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	56	22	.	.	ENST00000399022.4:c.789+1293C>T		*263*	ENST00000399022	NM_018170.3			0	1		UPI0000036029	0		ENST00000357384		ENSG00000141425	25560		78			HGNC	p.I287I	rs755392610	RPRD1A		SNV							ENST00000589050	protein_coding							A		-/1850				K7ER50_HUMAN				RPRD1A,synonymous_variant,p.=,ENST00000319040,;RPRD1A,3_prime_UTR_variant,,ENST00000585953,;RPRD1A,intron_variant,,ENST00000399022,NM_018170.3;RPRD1A,intron_variant,,ENST00000590898,;RPRD1A,intron_variant,,ENST00000357384,;RPRD1A,intron_variant,,ENST00000337059,;RPRD1A,intron_variant,,ENST00000588737,;RPRD1A,synonymous_variant,p.=,ENST00000589050,;RPRD1A,non_coding_transcript_exon_variant,,ENST00000591994,;							MODIFIER	-/939		RPR1A_HUMAN			Transcript			.	ENSP00000349955		CCDS11917.1			1	
PWWP2B	0	LGGM	GRCh37	10	134219645	134219645	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	22	22	.	.	ENST00000305233.5:c.1641C>T	p.Phe547=	p.F547=	ENST00000305233	NM_138499.3	547	ttC/ttT	0	1	1	UPI00001D7FE3	0		ENST00000305233		ENSG00000171813	25150		44			HGNC	p.F547F		PWWP2B		SNV							ENST00000305233	protein_coding			Gene3D:2.30.30.160,Pfam_domain:PF00855,PROSITE_profiles:PS50812,hmmpanther:PTHR23068,hmmpanther:PTHR23068:SF6,SMART_domains:SM00293,Superfamily_domains:SSF63748		F		T		1700/2651							YES	PWWP2B,synonymous_variant,p.=,ENST00000305233,NM_138499.3;PWWP2B,intron_variant,,ENST00000368609,NM_001098637.1;							LOW	1641/1773		PWP2B_HUMAN			Transcript			.	ENSP00000306324		CCDS7667.2			1	
TP53	0	LGGM	GRCh37	17	7579374	7579374	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	5	23	.	.	ENST00000269305.4:c.313G>T	p.Gly105Cys	p.G105C	ENST00000269305	NM_001126112.2	105	Ggc/Tgc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G105C	ENST00000269305		ENSG00000141510	11998		28	3.155		HGNC	p.G105C	TP53_g.11544G>T,COSM44481,COSM338570,COSM338571	TP53		SNV			1			0,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7579374,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		G/C		A	medium	503/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G105C	deleterious(0)	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			YES	TP53,missense_variant,p.Gly105Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly105Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly105Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly105Cys,ENST00000445888,;TP53,missense_variant,p.Gly105Cys,ENST00000359597,;TP53,missense_variant,p.Gly105Cys,ENST00000413465,;TP53,missense_variant,p.Gly105Cys,ENST00000508793,;TP53,missense_variant,p.Gly105Cys,ENST00000604348,;TP53,missense_variant,p.Gly105Cys,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;					0,1,1,1		MODERATE	313/1182	G105C	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
ADAM7	0	LGGM	GRCh37	8	24342850	24342850	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	21	23	.	.	ENST00000175238.6:c.936C>A	p.Pro312=	p.P312=	ENST00000175238	NM_003817.3	312	ccC/ccA	0	1	1	UPI000013C5CC	0		ENST00000175238		ENSG00000069206	214		44			HGNC	p.P312P		ADAM7		SNV							ENST00000380789	protein_coding			PROSITE_profiles:PS50215,hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		P		A		1019/3367							YES	ADAM7,synonymous_variant,p.=,ENST00000175238,NM_003817.3;ADAM7,synonymous_variant,p.=,ENST00000380789,;ADAM7,synonymous_variant,p.=,ENST00000520720,;RP11-624C23.1,intron_variant,,ENST00000519689,;RP11-624C23.1,intron_variant,,ENST00000523578,;RP11-561E1.1,downstream_gene_variant,,ENST00000519364,;							LOW	936/2265		ADAM7_HUMAN			Transcript			.	ENSP00000175238		CCDS6045.1			1	
DCAF6	0	LGGM	GRCh37	1	167971754	167971754	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	34	23	.	.	ENST00000367840.3:c.938G>A	p.Arg313His	p.R313H	ENST00000367840	NM_001198956.1	313	cGt/cAt	0	1		UPI000004E54B	0	NA	ENST00000312263		ENSG00000143164	30002		57	2.275		HGNC	p.R313H	rs780181955	DCAF6		SNV							ENST00000367840	protein_coding	getma.org/?cm=var&var=hg19,1,167971754,G,A&fts=all		hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF11		R/H		A	medium	1142/3186		getma.org/?cm=msa&ty=f&p=DCAF6_HUMAN&rb=221&re=420&var=R313H	deleterious(0)					DCAF6,missense_variant,p.Arg313His,ENST00000367840,NM_001198956.1;DCAF6,missense_variant,p.Arg313His,ENST00000367843,NM_018442.3;DCAF6,missense_variant,p.Arg313His,ENST00000312263,NM_001017977.2;DCAF6,missense_variant,p.Arg282His,ENST00000432587,NM_001198957.1;MIR1255B2,downstream_gene_variant,,ENST00000408618,;DCAF6,missense_variant,p.Arg313His,ENST00000470721,;							MODERATE	938/2583	R313H	DCAF6_HUMAN	0.000151		Transcript		probably_damaging(0.998)	.	ENSP00000311949	8.24E-06	CCDS30933.1			1	
LRRC31	0	LGGM	GRCh37	3	169572615	169572615	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	25	23	.	.	ENST00000316428.5:c.977A>G	p.Asp326Gly	p.D326G	ENST00000316428	NM_024727.3	326	gAc/gGc	0	1	1	UPI00001D690F	0	NA	ENST00000316428		ENSG00000114248	26261		48	2.175		HGNC	p.D326G		LRRC31		SNV							ENST00000523069	protein_coding	getma.org/?cm=var&var=hg19,3,169572615,T,C&fts=all		hmmpanther:PTHR24109,Gene3D:3.80.10.10,Pfam_domain:PF13516,SMART_domains:SM00368,Superfamily_domains:SSF52047		D/G		C	medium	1035/2520		getma.org/?cm=msa&ty=f&p=LRC31_HUMAN&rb=265&re=336&var=D326G	deleterious(0)				YES	LRRC31,missense_variant,p.Asp326Gly,ENST00000316428,NM_024727.3,NM_001277127.1;LRRC31,missense_variant,p.Asp270Gly,ENST00000264676,NM_001277128.1;LRRC31,missense_variant,p.Asp326Gly,ENST00000523069,;LRRC31,non_coding_transcript_exon_variant,,ENST00000397805,;							MODERATE	977/1659	D326G	LRC31_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000325978		CCDS43167.1			1	
SEC23A	0	LGGM	GRCh37	14	39554972	39554972	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	31	23	.	.	ENST00000307712.6:c.822G>C	p.Leu274=	p.L274=	ENST00000307712	NM_006364.2	274	ctG/ctC	0	1	1	UPI000013EC46	0		ENST00000307712		ENSG00000100934	10701		54			HGNC	p.L162L		SEC23A		SNV			1				ENST00000554645	protein_coding			hmmpanther:PTHR11141,hmmpanther:PTHR11141:SF5,Gene3D:3.40.50.410,Pfam_domain:PF04811,Superfamily_domains:SSF53300		L		G		1340/4135				G3V5K1_HUMAN,G3V3G5_HUMAN,G3V2R6_HUMAN,B3KXI2_HUMAN			YES	SEC23A,synonymous_variant,p.=,ENST00000537403,;SEC23A,synonymous_variant,p.=,ENST00000307712,NM_006364.2;SEC23A,synonymous_variant,p.=,ENST00000545328,;SEC23A,synonymous_variant,p.=,ENST00000536508,;							LOW	822/2298		SC23A_HUMAN			Transcript			.	ENSP00000306881		CCDS9668.1			1	
HEATR6	0	LGGM	GRCh37	17	58143589	58143589	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	24	23	.	.	ENST00000184956.6:c.1397T>G	p.Leu466Trp	p.L466W	ENST00000184956	NM_022070.4	466	tTg/tGg	0	1	1	UPI0000366C37	0	NA	ENST00000184956		ENSG00000068097	24076		47	2.395		HGNC	p.L466W		HEATR6		SNV							ENST00000585976	protein_coding	getma.org/?cm=var&var=hg19,17,58143589,A,C&fts=all		hmmpanther:PTHR13366,Gene3D:1.25.10.10,Pfam_domain:PF13251,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		L/W		C	medium	1414/3932		getma.org/?cm=msa&ty=f&p=HEAT6_HUMAN&rb=418&re=599&var=L466W	deleterious(0)	K7ELR8_HUMAN			YES	HEATR6,missense_variant,p.Leu466Trp,ENST00000184956,NM_022070.4;HEATR6,missense_variant,p.Leu466Trp,ENST00000585976,;HEATR6,3_prime_UTR_variant,,ENST00000587003,;HEATR6,downstream_gene_variant,,ENST00000590587,;RP11-178C3.6,upstream_gene_variant,,ENST00000585345,;							MODERATE	1397/3546	L466W	HEAT6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000184956		CCDS11623.1			1	
LARS2	0	LGGM	GRCh37	3	45436067	45436067	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	43	24	.	.	ENST00000415258.1:c.122A>G	p.Tyr41Cys	p.Y41C	ENST00000415258		41	tAc/tGc	0	1		UPI0000001297	0	NA	ENST00000265537		ENSG00000011376	17095		67	1.04		HGNC	p.Y41C		LARS2		SNV			1				ENST00000265537	protein_coding	getma.org/?cm=var&var=hg19,3,45436067,A,G&fts=all		hmmpanther:PTHR11946:SF7,hmmpanther:PTHR11946		Y/C		G	low	384/4281		getma.org/?cm=msa&ty=f&p=SYLM_HUMAN&rb=1&re=57&var=Y41C	deleterious_low_confidence(0)	Q9BQR0_HUMAN,C9JYR8_HUMAN				LARS2,missense_variant,p.Tyr41Cys,ENST00000415258,;LARS2,missense_variant,p.Tyr41Cys,ENST00000265537,NM_015340.3;LARS2,missense_variant,p.Tyr41Cys,ENST00000414984,;LARS2,missense_variant,p.Tyr41Cys,ENST00000431023,;LARS2,missense_variant,p.Tyr41Cys,ENST00000430399,;							MODERATE	122/2712	Y41C	SYLM_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000265537		CCDS2728.1			1	
MUC4	0	LGGM	GRCh37	3	195509382	195509382	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	6	25	.	.	ENST00000463781.3:c.9069C>A	p.Thr3023=	p.T3023=	ENST00000463781	NM_018406.6	3023	acC/acA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		31			HGNC	p.T3023T		MUC4		SNV							ENST00000463781	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T		T		9529/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	9069/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
ZNF14	0	LGGM	GRCh37	19	19822658	19822658	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	5	27	.	.	ENST00000344099.3:c.1432A>G	p.Lys478Glu	p.K478E	ENST00000344099	NM_021030.2	478	Aaa/Gaa	0	1	1	UPI00001E058E	0	getma.org/pdb.php?prot=ZNF14_HUMAN&from=461&to=486&var=K478E	ENST00000344099		ENSG00000105708	12924		32	-0.215		HGNC	p.K478E		ZNF14		SNV							ENST00000344099	protein_coding	getma.org/?cm=var&var=hg19,19,19822658,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF21,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/E		C	neutral	1571/2949		getma.org/?cm=msa&ty=f&p=ZNF14_HUMAN&rb=441&re=506&var=K478E	deleterious(0.04)				YES	ZNF14,missense_variant,p.Lys478Glu,ENST00000344099,NM_021030.2;CTC-412M14.5,downstream_gene_variant,,ENST00000604034,;							MODERATE	1432/1929	K478E	ZNF14_HUMAN			Transcript		possibly_damaging(0.519)	.	ENSP00000340514		CCDS12409.1			1	
RWDD4	0	LGGM	GRCh37	4	184570674	184570674	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091730	H091730N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	12	28	.	.	ENST00000326397.5:c.411A>G	p.Pro137=	p.P137=	ENST00000326397	NM_152682.2	137	ccA/ccG	0	1	1	UPI00003507F9	0		ENST00000326397		ENSG00000182552	23750		40			HGNC	p.P137P		RWDD4		SNV							ENST00000327570	protein_coding			hmmpanther:PTHR21275		P		C		684/2641				E7EV43_HUMAN,D6R9C7_HUMAN,B4DDP2_HUMAN			YES	RWDD4,synonymous_variant,p.=,ENST00000326397,NM_152682.2;RWDD4,synonymous_variant,p.=,ENST00000327570,;RWDD4,synonymous_variant,p.=,ENST00000510968,;RWDD4,synonymous_variant,p.=,ENST00000512740,;RWDD4,downstream_gene_variant,,ENST00000506467,;RNU6-479P,downstream_gene_variant,,ENST00000516348,;RWDD4,3_prime_UTR_variant,,ENST00000510702,;RWDD4,3_prime_UTR_variant,,ENST00000514322,;							LOW	411/567		RWDD4_HUMAN			Transcript			.	ENSP00000388920		CCDS34111.1			1	
CEP164	0	LGGM	GRCh37	11	117242003	117242003	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	56	28	.	.	ENST00000278935.3:c.973A>T	p.Arg325Trp	p.R325W	ENST00000278935	NM_014956.4	325	Agg/Tgg	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		84	1.87		HGNC	p.R299W		CEP164		SNV			1				ENST00000529538	protein_coding	getma.org/?cm=var&var=hg19,11,117242003,A,T&fts=all		hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		R/W		T	low	1120/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=111&re=609&var=R325W	deleterious(0.01)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN			YES	CEP164,missense_variant,p.Arg325Trp,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;							MODERATE	973/4383	R325W	CE164_HUMAN			Transcript		possibly_damaging(0.455)	.	ENSP00000278935		CCDS31683.1			1	
ZNF283	0	LGGM	GRCh37	19	44352392	44352392	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	47	32	.	.	ENST00000324461.7:c.1639G>T	p.Glu547Ter	p.E547*	ENST00000324461	NM_181845.1	547	Gaa/Taa	0	1	1	UPI000155B91C	0	NA	ENST00000324461		ENSG00000167637	13077		79	0		HGNC	p.E547X		ZNF283		SNV							ENST00000324461	protein_coding	getma.org/?cm=var&var=hg19,19,44352392,G,T&fts=all		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		E/*		T	NA	1936/2851		NA		K7ESH0_HUMAN,K7EL69_HUMAN			YES	ZNF283,stop_gained,p.Glu547Ter,ENST00000324461,NM_181845.1;ZNF283,stop_gained,p.Glu408Ter,ENST00000588797,;							HIGH	1639/2040	E547*	ZN283_HUMAN			Transcript			.	ENSP00000327314		CCDS46097.1			1	
C10orf71	0	LGGM	GRCh37	10	50530964	50530964	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091730	H091730N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	48	32	.	.	ENST00000374144.3:c.374G>T	p.Arg125Ile	p.R125I	ENST00000374144		125	aGa/aTa	0	1	1	UPI0000161572	0	NA	ENST00000374144		ENSG00000177354	26973		80	1.87		HGNC	p.R125I		C10orf71		SNV							ENST00000374144	protein_coding	getma.org/?cm=var&var=hg19,10,50530964,G,T&fts=all				R/I		T	low	662/5230		getma.org/?cm=msa&ty=f&p=CJ071_HUMAN&rb=2&re=699&var=R125I	deleterious(0)				YES	C10orf71,missense_variant,p.Arg125Ile,ENST00000374144,;C10orf71,missense_variant,p.Arg125Ile,ENST00000323868,NM_001135196.1;							MODERATE	374/4308	R125I	CJ071_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000363259		CCDS44387.1			1	
TMEM55B	0	LGGM	GRCh37	14	20927415	20927415	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	39	33	.	.	ENST00000398020.4:c.661T>A	p.Cys221Ser	p.C221S	ENST00000398020	NM_144568.2	221	Tgc/Agc	0	1		UPI000000CC01	0	NA	ENST00000250489		ENSG00000165782	19299		72	0.895		HGNC	p.C47S		TMEM55B		SNV							ENST00000554028	protein_coding	getma.org/?cm=var&var=hg19,14,20927415,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR21014:SF3,hmmpanther:PTHR21014,Pfam_domain:PF09788		C/S		T	low	927/1961		getma.org/?cm=msa&ty=f&p=TM55B_HUMAN&rb=1&re=270&var=C214S	tolerated(0.27)	G3V5T5_HUMAN,G3V3P3_HUMAN				TMEM55B,missense_variant,p.Cys214Ser,ENST00000250489,;TMEM55B,missense_variant,p.Cys221Ser,ENST00000398020,NM_144568.2,NM_001100814.1;TMEM55B,missense_variant,p.Cys47Ser,ENST00000554028,;TMEM55B,missense_variant,p.Cys54Ser,ENST00000553460,;OSGEP,upstream_gene_variant,,ENST00000206542,NM_017807.3;APEX1,downstream_gene_variant,,ENST00000216714,NM_001244249.1,NM_001641.3;APEX1,downstream_gene_variant,,ENST00000555414,NM_080649.2,NM_080648.2;APEX1,downstream_gene_variant,,ENST00000398030,;APEX1,downstream_gene_variant,,ENST00000555839,;APEX1,downstream_gene_variant,,ENST00000553681,;APEX1,downstream_gene_variant,,ENST00000557054,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;OSGEP,upstream_gene_variant,,ENST00000488532,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;APEX1,downstream_gene_variant,,ENST00000557181,;APEX1,downstream_gene_variant,,ENST00000438886,;APEX1,downstream_gene_variant,,ENST00000553368,;TMEM55B,downstream_gene_variant,,ENST00000556093,;APEX1,downstream_gene_variant,,ENST00000557365,;OSGEP,upstream_gene_variant,,ENST00000556252,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000554813,;APEX1,downstream_gene_variant,,ENST00000556296,;TMEM55B,non_coding_transcript_exon_variant,,ENST00000557041,;TMEM55B,non_coding_transcript_exon_variant,,ENST00000553602,;APEX1,downstream_gene_variant,,ENST00000557159,;APEX1,downstream_gene_variant,,ENST00000553555,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;APEX1,downstream_gene_variant,,ENST00000554325,;							MODERATE	640/834	C214S	TM55B_HUMAN			Transcript		benign(0.15)	.	ENSP00000250489		CCDS9551.1			1	
TMEM150C	0	LGGM	GRCh37	4	83417304	83417304	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	10	34	.	.	ENST00000515780.2:c.280G>T	p.Val94Phe	p.V94F	ENST00000515780		94	Gtt/Ttt	0	1		UPI000020B0D7	0	NA	ENST00000449862		ENSG00000249242	37263		44	1.245		HGNC	p.V94F		TMEM150C		SNV							ENST00000508701	protein_coding	getma.org/?cm=var&var=hg19,4,83417304,C,A&fts=all		Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF7		V/F		A	low	599/1990		getma.org/?cm=msa&ty=f&p=T150C_HUMAN&rb=8&re=218&var=V94F	tolerated(0.18)	D6RDW6_HUMAN				TMEM150C,missense_variant,p.Val94Phe,ENST00000515780,;TMEM150C,missense_variant,p.Val94Phe,ENST00000449862,NM_001080506.1;TMEM150C,missense_variant,p.Val94Phe,ENST00000508701,;RP11-791G16.2,non_coding_transcript_exon_variant,,ENST00000488045,;RP11-791G16.2,upstream_gene_variant,,ENST00000471756,;RPL7AP26,upstream_gene_variant,,ENST00000488538,;							MODERATE	280/750	V94F	T150C_HUMAN			Transcript		possibly_damaging(0.624)	.	ENSP00000403438		CCDS47087.1			1	
PTGER4	0	LGGM	GRCh37	5	40681550	40681550	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	34	36	.	.	ENST00000302472.3:c.455C>T	p.Ala152Val	p.A152V	ENST00000302472	NM_000958.2	152	gCg/gTg	0	1	1	UPI000005042F	0	getma.org/pdb.php?prot=PE2R4_HUMAN&from=34&to=329&var=A152V	ENST00000302472		ENSG00000171522	9596		70	1.955		HGNC	p.A152V		PTGER4		SNV							ENST00000302472	protein_coding	getma.org/?cm=var&var=hg19,5,40681550,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/V		T	medium	1479/3848		getma.org/?cm=msa&ty=f&p=PE2R4_HUMAN&rb=34&re=329&var=A152V	tolerated(0.09)	A0PJF5_HUMAN			YES	PTGER4,missense_variant,p.Ala152Val,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,;							MODERATE	455/1467	A152V	PE2R4_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000302846		CCDS3930.1			1	
CFHR1	0	LGGM	GRCh37	1	196801079	196801079	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091730	H091730N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	44	39	.	.	ENST00000320493.5:c.943A>G	p.Thr315Ala	p.T315A	ENST00000320493	NM_002113.2	315	Aca/Gca	0	1	1	UPI000013CCFE	0	getma.org/pdb.php?prot=FHR1_HUMAN&from=266&to=327&var=T315A	ENST00000320493		ENSG00000244414	4888		83	-0.96		HGNC	p.T315A		CFHR1		SNV			1				ENST00000320493	protein_coding	getma.org/?cm=var&var=hg19,1,196801079,A,G&fts=all		Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF325,SMART_domains:SM00032,Superfamily_domains:SSF57535		T/A		G	neutral	1031/1271		getma.org/?cm=msa&ty=f&p=FHR1_HUMAN&rb=266&re=327&var=T315A	tolerated(0.52)	Q6LBM9_HUMAN			YES	CFHR1,missense_variant,p.Thr315Ala,ENST00000320493,NM_002113.2;CFHR1,missense_variant,p.Thr256Ala,ENST00000367424,;CFHR2,intron_variant,,ENST00000367421,;CFHR1,downstream_gene_variant,,ENST00000480960,;							MODERATE	943/993	T315A	FHR1_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000314299		CCDS1386.1			1	
CNKSR2	0	LGGM	GRCh37	X	21627299	21627299	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091730	H091730N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091730N.bam, H091730T.bam	Illumina HiSeq	6	40	.	.	ENST00000379510.3:c.2256C>T	p.Ser752=	p.S752=	ENST00000379510	NM_014927.3	752	agC/agT	0	1	1	UPI0000070D72	0		ENST00000379510		ENSG00000149970	19701		46			HGNC	p.S752S		CNKSR2		SNV			1				ENST00000279451	protein_coding			hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21		S		T		2292/5315							YES	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;							LOW	2256/3105		CNKR2_HUMAN			Transcript			.	ENSP00000368824		CCDS14198.1			1	
PLXNB1	0	LGGM	GRCh37	3	48465656	48465656	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	2	2	.	.	ENST00000358536.4:c.365G>T	p.Arg122Leu	p.R122L	ENST00000358536	NM_002673.4	122	cGg/cTg	0	1		UPI0000038131	0	getma.org/pdb.php?prot=PLXB1_HUMAN&from=35&to=460&var=R122L	ENST00000296440		ENSG00000164050	9103		4	1.905		HGNC	p.R122L		PLXNB1		SNV							ENST00000296440	protein_coding	getma.org/?cm=var&var=hg19,3,48465656,C,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF36,hmmpanther:PTHR22625,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		R/L		A	medium	468/7143		getma.org/?cm=msa&ty=f&p=PLXB1_HUMAN&rb=35&re=460&var=R122L	deleterious(0.05)	G8JLJ7_HUMAN,B3KRL1_HUMAN				PLXNB1,missense_variant,p.Arg122Leu,ENST00000358536,NM_002673.4;PLXNB1,missense_variant,p.Arg122Leu,ENST00000296440,NM_001130082.1;PLXNB1,missense_variant,p.Arg122Leu,ENST00000358459,;PLXNB1,missense_variant,p.Arg122Leu,ENST00000456774,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,upstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Arg122Leu,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000462738,;							MODERATE	365/6408	R122L	PLXB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000296440		CCDS2765.1			1	
CHD1	0	LGGM	GRCh37	5	98238603	98238603	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000284049.3:c.437+1G>T		p.X146_splice	ENST00000284049	NM_001270.2			0	1	1	UPI000013DD75	0		ENST00000284049		ENSG00000153922	1915		36			HGNC	-		CHD1		SNV							ENST00000284049	protein_coding							A		-/5918							YES	CHD1,splice_donor_variant,,ENST00000284049,NM_001270.2;							HIGH	437/5133		CHD1_HUMAN			Transcript			.	ENSP00000284049		CCDS34204.1			1	
INO80	0	LGGM	GRCh37	15	41346126	41346126	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	35	3	.	.	ENST00000361937.3:c.2274+1G>T		p.X758_splice	ENST00000361937				0	1	1	UPI00001B6AFC	0		ENST00000361937		ENSG00000128908	26956		38			HGNC	-		INO80		SNV							ENST00000361937	protein_coding							A		-/6439				Q9NUK2_HUMAN			YES	INO80,splice_donor_variant,,ENST00000361937,;INO80,splice_donor_variant,,ENST00000401393,NM_017553.1;INO80,splice_donor_variant,,ENST00000558357,;INO80,splice_donor_variant,,ENST00000559995,;							HIGH	2274/4671		INO80_HUMAN			Transcript			.	ENSP00000355205		CCDS10071.1			1	
RNF216	0	LGGM	GRCh37	7	5663757	5663757	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	17	3	.	.	ENST00000389902.3:c.2383-1G>T		p.X795_splice	ENST00000389902				0	1		UPI000013D69A	0		ENST00000425013		ENSG00000011275	21698		20			HGNC	-		RNF216		SNV			1				ENST00000425013	protein_coding							A		-/5639				C9JIV3_HUMAN				RNF216,splice_acceptor_variant,,ENST00000425013,NM_207111.3,NM_207116.2;RNF216,splice_acceptor_variant,,ENST00000389902,;RNF216,splice_acceptor_variant,,ENST00000469375,;RNF216,splice_acceptor_variant,,ENST00000389900,;							HIGH	2212/2601		RN216_HUMAN			Transcript			.	ENSP00000404602		CCDS34595.1			1	
PKHD1	0	LGGM	GRCh37	6	51875152	51875152	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	3	.	.	ENST00000371117.3:c.5706C>A	p.Thr1902=	p.T1902=	ENST00000371117	NM_138694.3	1902	acC/acA	0	1	1	UPI000013C4C0	0		ENST00000371117		ENSG00000170927	9016		41			HGNC	p.T1902T		PKHD1		SNV			1				ENST00000340994	protein_coding			hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915,Gene3D:2.60.40.10		T		T		5982/16282							YES	PKHD1,synonymous_variant,p.=,ENST00000371117,NM_138694.3;PKHD1,synonymous_variant,p.=,ENST00000340994,NM_170724.2;							LOW	5706/12225		PKHD1_HUMAN			Transcript			.	ENSP00000360158		CCDS4935.1			1	
PLA1A	0	LGGM	GRCh37	3	119334878	119334878	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	3	.	.	ENST00000273371.4:c.684C>A	p.Pro228=	p.P228=	ENST00000273371	NM_015900.3	228	ccC/ccA	0	1	1	UPI0000073F97	0		ENST00000273371		ENSG00000144837	17661		24			HGNC	p.P55P		PLA1A		SNV							ENST00000488919	protein_coding			Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF86		P		A		756/1786							YES	PLA1A,synonymous_variant,p.=,ENST00000273371,NM_015900.3;PLA1A,synonymous_variant,p.=,ENST00000494440,;PLA1A,synonymous_variant,p.=,ENST00000495992,NM_001206960.1;PLA1A,synonymous_variant,p.=,ENST00000488919,NM_001206961.1;PLA1A,synonymous_variant,p.=,ENST00000475963,;							LOW	684/1371		PLA1A_HUMAN			Transcript			.	ENSP00000273371		CCDS2991.1			1	
C2CD5	0	LGGM	GRCh37	12	22637733	22637733	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	29	3	.	.	ENST00000333957.4:c.1448G>T	p.Cys483Phe	p.C483F	ENST00000333957	NM_014802.1	483	tGc/tTc	0	1	1	UPI000000D850	0	NA	ENST00000333957		ENSG00000111731	29062		32	2.36		HGNC	p.C474F		C2CD5		SNV							ENST00000396028	protein_coding	getma.org/?cm=var&var=hg19,12,22637733,C,A&fts=all				C/F		A	medium	1704/4436		getma.org/?cm=msa&ty=f&p=K0528_HUMAN&rb=291&re=490&var=C483F	deleterious(0)				YES	C2CD5,missense_variant,p.Cys483Phe,ENST00000333957,NM_014802.1;C2CD5,missense_variant,p.Cys485Phe,ENST00000536386,NM_001286173.1;C2CD5,missense_variant,p.Cys483Phe,ENST00000446597,NM_001286176.1;C2CD5,missense_variant,p.Cys298Phe,ENST00000544930,;C2CD5,missense_variant,p.Cys496Phe,ENST00000545552,NM_001286175.1;C2CD5,missense_variant,p.Cys474Phe,ENST00000396028,NM_001286177.1;C2CD5,missense_variant,p.Cys483Phe,ENST00000542676,NM_001286174.1;C2CD5,missense_variant,p.Cys181Phe,ENST00000535555,;C2CD5,non_coding_transcript_exon_variant,,ENST00000543855,;C2CD5,3_prime_UTR_variant,,ENST00000542683,;C2CD5,non_coding_transcript_exon_variant,,ENST00000541310,;C2CD5,non_coding_transcript_exon_variant,,ENST00000543797,;C2CD5,non_coding_transcript_exon_variant,,ENST00000542768,;							MODERATE	1448/3003	C483F	C2CD5_HUMAN			Transcript		possibly_damaging(0.658)	.	ENSP00000334229		CCDS31758.1			1	
DPP4	0	LGGM	GRCh37	2	162929992	162929992	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000360534.3:c.11C>A	p.Pro4Gln	p.P4Q	ENST00000360534	NM_001935.3	4	cCg/cAg	0	1	1	UPI000004F7BF	0	NA	ENST00000360534		ENSG00000197635	3009		36	2.015		HGNC	p.P4Q		DPP4		SNV							ENST00000413651	protein_coding	getma.org/?cm=var&var=hg19,2,162929992,G,T&fts=all		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF93		P/Q		T	medium	572/3904		getma.org/?cm=msa&ty=f&p=DPP4_HUMAN&rb=1&re=107&var=P4Q	tolerated(0.3)				YES	DPP4,missense_variant,p.Pro4Gln,ENST00000360534,NM_001935.3;AC008063.2,non_coding_transcript_exon_variant,,ENST00000418335,;DPP4,non_coding_transcript_exon_variant,,ENST00000497461,;DPP4,missense_variant,p.Pro4Gln,ENST00000434918,;DPP4,missense_variant,p.Pro4Gln,ENST00000413651,;DPP4,non_coding_transcript_exon_variant,,ENST00000490286,;DPP4,upstream_gene_variant,,ENST00000461836,;TIMM8AP1,downstream_gene_variant,,ENST00000419283,;							MODERATE	Nov-01	P4Q	DPP4_HUMAN			Transcript		benign(0.008)	.	ENSP00000353731		CCDS2216.1			1	
GSX1	0	LGGM	GRCh37	13	28368011	28368011	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	13	3	.	.	ENST00000302945.2:c.721G>T	p.Glu241Ter	p.E241*	ENST00000302945	NM_145657.1	241	Gag/Tag	0	1	1	UPI000012BBF5	0	NA	ENST00000302945		ENSG00000169840	20374		16	0		HGNC	p.E241X		GSX1		SNV							ENST00000302945	protein_coding	getma.org/?cm=var&var=hg19,13,28368011,G,T&fts=all		hmmpanther:PTHR24337,hmmpanther:PTHR24337:SF4		E/*		T	NA	769/1663		NA					YES	GSX1,stop_gained,p.Glu241Ter,ENST00000302945,NM_145657.1;							HIGH	721/795	E241*	GSX1_HUMAN			Transcript			.	ENSP00000304331		CCDS9326.1			1	
TBC1D13	0	LGGM	GRCh37	9	131566319	131566319	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	43	3	.	.	ENST00000372648.5:c.839C>A	p.Ser280Ter	p.S280*	ENST00000372648	NM_018201.3	280	tCg/tAg	0	1	1	UPI000013E816	0	NA	ENST00000372648		ENSG00000107021	25571		46	0		HGNC	p.S280X		TBC1D13		SNV							ENST00000372648	protein_coding	getma.org/?cm=var&var=hg19,9,131566319,C,A&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF252,hmmpanther:PTHR22957,Pfam_domain:PF00566,SMART_domains:SM00164,Superfamily_domains:SSF47923		S/*		A	NA	989/3906		NA		Q59F95_HUMAN,B4DHM6_HUMAN,B3KW04_HUMAN			YES	TBC1D13,stop_gained,p.Ser280Ter,ENST00000372648,NM_018201.3;TBC1D13,stop_gained,p.Ser99Ter,ENST00000539497,;TBC1D13,intron_variant,,ENST00000223865,NM_001286772.1;TBC1D13,downstream_gene_variant,,ENST00000466056,;							HIGH	839/1203	S280*	TBC13_HUMAN			Transcript			.	ENSP00000361731		CCDS6911.1			1	
PRX	0	LGGM	GRCh37	19	40904615	40904615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	29	3	.	.	ENST00000324001.7:c.293G>T	p.Arg98Leu	p.R98L	ENST00000324001	NM_181882.2	98	cGc/cTc	0	1	1	UPI000044CC1A	0	getma.org/pdb.php?prot=PRAX_HUMAN&from=16&to=99&var=R98L	ENST00000324001		ENSG00000105227	13797		32	2.78		HGNC	p.R98L		PRX		SNV			1				ENST00000324001	protein_coding	getma.org/?cm=var&var=hg19,19,40904615,C,A&fts=all		hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/L		A	medium	564/4855		getma.org/?cm=msa&ty=f&p=PRAX_HUMAN&rb=16&re=99&var=R98L	deleterious(0)				YES	PRX,missense_variant,p.Arg98Leu,ENST00000291825,NM_020956.2;PRX,missense_variant,p.Arg98Leu,ENST00000324001,NM_181882.2;							MODERATE	293/4386	R98L	PRAX_HUMAN			Transcript		benign(0.433)	.	ENSP00000326018		CCDS33028.1			1	
SUPT16H	0	LGGM	GRCh37	14	21831421	21831421	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	27	3	.	.	ENST00000216297.2:c.1366C>A	p.Arg456=	p.R456=	ENST00000216297	NM_007192.3	456	Cgg/Agg	0	1	1	UPI0000035D5C	0		ENST00000216297		ENSG00000092201	11465		30			HGNC	p.R456R		SUPT16H		SNV							ENST00000216297	protein_coding			hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980		R		T		1705/4684							YES	SUPT16H,synonymous_variant,p.=,ENST00000216297,NM_007192.3;SUPT16H,upstream_gene_variant,,ENST00000557394,;							LOW	1366/3144		SP16H_HUMAN			Transcript			.	ENSP00000216297		CCDS9569.1			1	
SNRNP200	0	LGGM	GRCh37	2	96944547	96944547	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	24	3	.	.	ENST00000323853.5:c.5323G>T	p.Gly1775Cys	p.G1775C	ENST00000323853	NM_014014.4	1775	Ggc/Tgc	0	1	1	UPI0000207C53	0	NA	ENST00000323853		ENSG00000144028	30859		27	3.66		HGNC	p.G1775C		SNRNP200		SNV			1				ENST00000323853	protein_coding	getma.org/?cm=var&var=hg19,2,96944547,C,A&fts=all		hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF55,Superfamily_domains:SSF46785		G/C		A	high	5401/7165		getma.org/?cm=msa&ty=f&p=U520_HUMAN&rb=1694&re=1811&var=G1775C	deleterious(0)	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN			YES	SNRNP200,missense_variant,p.Gly1775Cys,ENST00000323853,NM_014014.4;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,missense_variant,p.Gly302Cys,ENST00000429650,;SNRNP200,splice_region_variant,,ENST00000497539,;SNRNP200,splice_region_variant,,ENST00000484372,;SNRNP200,downstream_gene_variant,,ENST00000480242,;SNRNP200,downstream_gene_variant,,ENST00000493271,;SNRNP200,upstream_gene_variant,,ENST00000480835,;							MODERATE	5323/6411	G1775C	U520_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000317123		CCDS2020.1			1	
CDKL5	0	LGGM	GRCh37	X	18582620	18582620	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	30	3	.	.	ENST00000379989.3:c.123C>A	p.Ile41=	p.I41=	ENST00000379989	NM_001037343.1	41	atC/atA	0	1	1	UPI0000136103	0		ENST00000379989		ENSG00000008086	11411		33			HGNC	p.I41I		CDKL5		SNV			1				ENST00000379996	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF111,SMART_domains:SM00220,Superfamily_domains:SSF56112		I		A		408/3459							YES	CDKL5,synonymous_variant,p.=,ENST00000379989,NM_001037343.1;CDKL5,synonymous_variant,p.=,ENST00000379996,NM_003159.2;							LOW	123/3093		CDKL5_HUMAN			Transcript			.	ENSP00000369325		CCDS14186.1			1	
ZNF567	0	LGGM	GRCh37	19	37210706	37210706	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	3	.	.	ENST00000585696.1:c.987G>T	p.Thr329=	p.T329=	ENST00000585696		329	acG/acT	0	1		UPI000022A7F5	0		ENST00000536254		ENSG00000189042	28696		41			HGNC	p.T360T		ZNF567		SNV							ENST00000536254	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,Superfamily_domains:SSF57667		T		T		1302/2825								ZNF567,synonymous_variant,p.=,ENST00000585696,;ZNF567,synonymous_variant,p.=,ENST00000536254,;ZNF567,synonymous_variant,p.=,ENST00000360729,NM_152603.2;ZNF567,synonymous_variant,p.=,ENST00000588311,;ZNF567,synonymous_variant,p.=,ENST00000392163,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000589264,;ZNF567,intron_variant,,ENST00000591308,;							LOW	1080/1944		ZN567_HUMAN			Transcript			.	ENSP00000441838					1	
TCF23	0	LGGM	GRCh37	2	27373093	27373093	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000296096.5:c.325G>T	p.Asp109Tyr	p.D109Y	ENST00000296096	NM_175769.2	109	Gac/Tac	0	1	1	UPI00001AEC06	0	NA	ENST00000296096		ENSG00000163792	18602		36	3.06		HGNC	p.D109Y		TCF23		SNV							ENST00000296096	protein_coding	getma.org/?cm=var&var=hg19,2,27373093,G,T&fts=all		PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF43,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459		D/Y		T	medium	455/1418		getma.org/?cm=msa&ty=f&p=TCF23_HUMAN&rb=79&re=129&var=D109Y	deleterious(0)				YES	TCF23,missense_variant,p.Asp109Tyr,ENST00000296096,NM_175769.2;TCF23,downstream_gene_variant,,ENST00000407815,;							MODERATE	325/645	D109Y	TCF23_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000296096		CCDS33163.1			1	
CDHR1	0	LGGM	GRCh37	10	85972912	85972912	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	3	.	.	ENST00000372117.3:c.1848C>A	p.Pro616=	p.P616=	ENST00000372117	NM_033100.3	616	ccC/ccA	0	1	1	UPI0000161C2F	0		ENST00000372117		ENSG00000148600	14550		31			HGNC	p.P616P		CDHR1		SNV			1				ENST00000332904	protein_coding			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		P		A		1951/5428				F1T0L2_HUMAN			YES	CDHR1,synonymous_variant,p.=,ENST00000372117,NM_033100.3;CDHR1,synonymous_variant,p.=,ENST00000440770,;CDHR1,synonymous_variant,p.=,ENST00000332904,NM_001171971.2;CDHR1,non_coding_transcript_exon_variant,,ENST00000459673,;							LOW	1848/2580		CDHR1_HUMAN			Transcript			.	ENSP00000361189		CCDS7372.1			1	
GPR179	0	LGGM	GRCh37	17	36490928	36490928	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	9	3	.	.	ENST00000342292.4:c.1633A>T	p.Ile545Phe	p.I545F	ENST00000342292	NM_001004334.2	545	Atc/Ttc	0	1	1	UPI000041A9C2	0	NA	ENST00000342292		ENSG00000188888	31371		12	1.5		HGNC	p.I545F		GPR179		SNV			1				ENST00000342292	protein_coding	getma.org/?cm=var&var=hg19,17,36490928,T,A&fts=all		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7,Transmembrane_helices:TMhelix		I/F		A	low	1654/7980		getma.org/?cm=msa&ty=f&p=GP179_HUMAN&rb=390&re=634&var=I545F	deleterious(0.01)				YES	GPR179,missense_variant,p.Ile545Phe,ENST00000342292,NM_001004334.2;GPR179,downstream_gene_variant,,ENST00000494542,;							MODERATE	1633/7104	I545F	GP179_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000345060		CCDS42308.1			1	
CHST14	0	LGGM	GRCh37	15	40763903	40763903	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	17	3	.	.	ENST00000306243.5:c.491G>T	p.Arg164Leu	p.R164L	ENST00000306243	NM_130468.3	164	cGg/cTg	0	1	1	UPI000004616D	0	NA	ENST00000306243		ENSG00000169105	24464		20	2.555		HGNC	p.R164L		CHST14		SNV			1				ENST00000306243	protein_coding	getma.org/?cm=var&var=hg19,15,40763903,G,T&fts=all		hmmpanther:PTHR12137:SF34,hmmpanther:PTHR12137,Pfam_domain:PF03567		R/L		T	medium	744/2194		getma.org/?cm=msa&ty=f&p=CHSTE_HUMAN&rb=139&re=365&var=R164L	deleterious(0)				YES	CHST14,missense_variant,p.Arg164Leu,ENST00000306243,NM_130468.3;CHST14,intron_variant,,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000561234,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.3;BAHD1,downstream_gene_variant,,ENST00000560846,;RP11-64K12.8,upstream_gene_variant,,ENST00000559730,;							MODERATE	491/1131	R164L	CHSTE_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000307297		CCDS10059.1			1	
ARMC5	0	LGGM	GRCh37	16	31477508	31477508	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	3	.	.	ENST00000268314.4:c.2106G>T	p.Ala702=	p.A702=	ENST00000268314	NM_001105247.1	702	gcG/gcT	0	1	1	UPI0000F6E6C0	0		ENST00000268314		ENSG00000140691	25781		31			HGNC	p.A797A		ARMC5		SNV			1				ENST00000408912	protein_coding			Superfamily_domains:SSF48371,hmmpanther:PTHR23312		A		T		2635/3612							YES	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.=,ENST00000412665,;ARMC5,synonymous_variant,p.=,ENST00000564900,;ARMC5,3_prime_UTR_variant,,ENST00000457010,NM_024742.2;ARMC5,downstream_gene_variant,,ENST00000570119,;ARMC5,downstream_gene_variant,,ENST00000564514,;							LOW	2106/2808		ARMC5_HUMAN			Transcript			.	ENSP00000268314		CCDS45472.1			1	
HTT	0	LGGM	GRCh37	4	3174802	3174802	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	44	3	.	.	ENST00000355072.5:c.4110C>A	p.Leu1370=	p.L1370=	ENST00000355072	NM_002111.6	1370	ctC/ctA	0	1	1	UPI000013D567	0		ENST00000355072		ENSG00000197386	4851		47			HGNC	p.L1370L		HTT		SNV			1				ENST00000355072	protein_coding			hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10		L		A		4255/13464				D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,synonymous_variant,p.=,ENST00000355072,NM_002111.6;HTT,synonymous_variant,p.=,ENST00000509618,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;							LOW	4110/9429		HD_HUMAN			Transcript			.	ENSP00000347184		CCDS43206.1			1	
OR51Q1	0	LGGM	GRCh37	11	5444377	5444377	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	3	.	.	ENST00000300778.4:c.947C>A	p.Ser316Ter	p.S316*	ENST00000300778	NM_001004757.2	316	tCa/tAa	0	1	1	UPI0000041BDB	0	NA	ENST00000300778		ENSG00000167360	14851		23	0		HGNC	p.S316X		OR51Q1		SNV							ENST00000300778	protein_coding	getma.org/?cm=var&var=hg19,11,5444377,C,A&fts=all		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF84		S/*		A	NA	1037/1096		NA					YES	OR51Q1,stop_gained,p.Ser316Ter,ENST00000300778,NM_001004757.2;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,;							HIGH	947/954	S316*	O51Q1_HUMAN			Transcript			.	ENSP00000300778		CCDS31381.1			1	
TMPRSS12	0	LGGM	GRCh37	12	51237640	51237640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	37	3	.	.	ENST00000398458.3:c.203C>A	p.Pro68Gln	p.P68Q	ENST00000398458	NM_182559.2	68	cCg/cAg	0	1	1	UPI000019741B	0	NA	ENST00000398458		ENSG00000186452	28779		40	0		HGNC	p.P68Q		TMPRSS12		SNV							ENST00000551456	protein_coding	getma.org/?cm=var&var=hg19,12,51237640,C,A&fts=all		hmmpanther:PTHR24259:SF5,hmmpanther:PTHR24259		P/Q		A	neutral	235/1450		getma.org/?cm=msa&ty=f&p=TMPSC_HUMAN&rb=1&re=77&var=P68Q	deleterious(0)				YES	TMPRSS12,missense_variant,p.Pro68Gln,ENST00000551456,;TMPRSS12,missense_variant,p.Pro68Gln,ENST00000398458,NM_182559.2;RN7SL519P,upstream_gene_variant,,ENST00000497925,;RP11-60E8.3,downstream_gene_variant,,ENST00000605614,;							MODERATE	203/1047	P68Q	TMPSC_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000381476		CCDS44881.1			1	
STK39	0	LGGM	GRCh37	2	168873561	168873561	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	40	3	.	.	ENST00000355999.4:c.1421C>A	p.Pro474Gln	p.P474Q	ENST00000355999	NM_013233.2	474	cCa/cAa	0	1	1	UPI000013D46D	0	getma.org/pdb.php?prot=STK39_HUMAN&from=452&to=483&var=P474Q	ENST00000355999		ENSG00000198648	17717		43	1.78		HGNC	p.P474Q		STK39		SNV							ENST00000355999	protein_coding	getma.org/?cm=var&var=hg19,2,168873561,G,T&fts=all		hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361,Gene3D:3.10.20.90,Pfam_domain:PF12202		P/Q		T	low	2127/3820		getma.org/?cm=msa&ty=f&p=STK39_HUMAN&rb=452&re=483&var=P474Q	tolerated(0.09)				YES	STK39,missense_variant,p.Pro474Gln,ENST00000355999,NM_013233.2;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;STK39,upstream_gene_variant,,ENST00000461000,;							MODERATE	1421/1638	P474Q	STK39_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000348278		CCDS42770.1			1	
OR2T2	0	LGGM	GRCh37	1	248616503	248616503	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	3	.	.	ENST00000342927.3:c.405C>G	p.Leu135=	p.L135=	ENST00000342927	NM_001004136.1	135	ctC/ctG	0	1	1	UPI0000048DB0	0		ENST00000342927		ENSG00000196240	14725		44			HGNC	p.L135L		OR2T2		SNV							ENST00000342927	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		L		G		427/1054							YES	OR2T2,synonymous_variant,p.=,ENST00000342927,NM_001004136.1;							LOW	405/975		OR2T2_HUMAN			Transcript			.	ENSP00000343062		CCDS31116.1			1	
SYT10	0	LGGM	GRCh37	12	33538180	33538180	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	47	3	.	.	ENST00000228567.3:c.1124C>A	p.Pro375Gln	p.P375Q	ENST00000228567	NM_198992.3	375	cCg/cAg	0	1	1	UPI0000052B30	0	getma.org/pdb.php?prot=SYT10_HUMAN&from=365&to=468&var=P375Q	ENST00000228567		ENSG00000110975	19266		50	2.665		HGNC	p.P375Q		SYT10		SNV							ENST00000228567	protein_coding	getma.org/?cm=var&var=hg19,12,33538180,G,T&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF46,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		P/Q		T	medium	1421/4461		getma.org/?cm=msa&ty=f&p=SYT10_HUMAN&rb=365&re=468&var=P375Q	deleterious(0.01)	F5H2A8_HUMAN			YES	SYT10,missense_variant,p.Pro375Gln,ENST00000228567,NM_198992.3;SYT10,missense_variant,p.Pro194Gln,ENST00000535526,;SYT10,3_prime_UTR_variant,,ENST00000539102,;							MODERATE	1124/1572	P375Q	SYT10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000228567		CCDS8732.1			1	
BTBD9	0	LGGM	GRCh37	6	38160318	38160318	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	29	3	.	.	ENST00000481247.1:c.1618G>T	p.Gly540Trp	p.G540W	ENST00000481247	NM_052893.1	540	Ggg/Tgg	0	1	1	UPI00001C040E	0	NA	ENST00000481247		ENSG00000183826	21228		32	3.38		HGNC	p.G540W		BTBD9		SNV			1				ENST00000403056	protein_coding	getma.org/?cm=var&var=hg19,6,38160318,C,A&fts=all		Gene3D:2.60.120.260,Pfam_domain:PF00754,Superfamily_domains:SSF49785		G/W		A	medium	1770/8525		getma.org/?cm=msa&ty=f&p=BTBD9_HUMAN&rb=433&re=554&var=G540W	deleterious(0)	Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN			YES	BTBD9,missense_variant,p.Gly540Trp,ENST00000481247,NM_052893.1,NM_001099272.1;BTBD9,missense_variant,p.Gly472Trp,ENST00000314100,NM_001172418.1,NM_152733.2;BTBD9,missense_variant,p.Gly510Trp,ENST00000419706,;BTBD9,missense_variant,p.Gly540Trp,ENST00000403056,;BTBD9,missense_variant,p.Gly472Trp,ENST00000408958,;BTBD9,3_prime_UTR_variant,,ENST00000328403,;							MODERATE	1618/1839	G540W	BTBD9_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000418751		CCDS47418.1			1	
LRP4	0	LGGM	GRCh37	11	46916200	46916200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	12	3	.	.	ENST00000378623.1:c.1480C>A	p.Arg494Ser	p.R494S	ENST00000378623	NM_002334.3	494	Cgt/Agt	0	1	1	UPI0000D625E9	0	getma.org/pdb.php?prot=LRP4_HUMAN&from=480&to=520&var=R494S	ENST00000378623		ENSG00000134569	6696		15	1.18		HGNC	p.R494S		LRP4		SNV			1				ENST00000378623	protein_coding	getma.org/?cm=var&var=hg19,11,46916200,G,T&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825		R/S		T	low	1723/8076		getma.org/?cm=msa&ty=f&p=LRP4_HUMAN&rb=480&re=520&var=R494S	tolerated(0.13)				YES	LRP4,missense_variant,p.Arg494Ser,ENST00000378623,NM_002334.3;LRP4,downstream_gene_variant,,ENST00000534404,;LRP4,upstream_gene_variant,,ENST00000529921,;							MODERATE	1480/5718	R494S	LRP4_HUMAN			Transcript		benign(0.401)	.	ENSP00000367888		CCDS31478.1			1	
RRP9	0	LGGM	GRCh37	3	51967609	51967609	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	40	3	.	.	ENST00000232888.6:c.1341C>T	p.Gly447=	p.G447=	ENST00000232888	NM_004704.4	447	ggC/ggT	0	1	1	UPI000006F889	0		ENST00000232888		ENSG00000114767	16829		43			HGNC	p.G447G		RRP9		SNV							ENST00000232888	protein_coding			hmmpanther:PTHR19865,Gene3D:2.130.10.10		G		A		1415/1578							YES	RRP9,synonymous_variant,p.=,ENST00000232888,NM_004704.4;							LOW	1341/1428		U3IP2_HUMAN			Transcript			.	ENSP00000232888		CCDS2837.1			1	
SYNE2	0	LGGM	GRCh37	14	64688409	64688409	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	30	3	.	.	ENST00000358025.3:c.20177G>T	p.Arg6726Leu	p.R6726L	ENST00000358025	NM_182914.2	6726	cGg/cTg	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		33	0.2		HGNC	p.R3088L		SYNE2		SNV			1				ENST00000357395	protein_coding	getma.org/?cm=var&var=hg19,14,64688409,G,T&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/L		T	neutral	20320/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=6659&re=6825&var=R6703L		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Arg3088Leu,ENST00000357395,;SYNE2,missense_variant,p.Arg6726Leu,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Arg6703Leu,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Arg6619Leu,ENST00000554584,;SYNE2,missense_variant,p.Arg3360Leu,ENST00000555002,;SYNE2,missense_variant,p.Arg3088Leu,ENST00000394768,;SYNE2,missense_variant,p.Arg581Leu,ENST00000555022,;SYNE2,missense_variant,p.Arg486Leu,ENST00000554805,;SYNE2,missense_variant,p.Arg248Leu,ENST00000441438,NM_182910.2;SYNE2,missense_variant,p.Arg374Leu,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,;							MODERATE	20108/20658	R6703L	SYNE2_HUMAN			Transcript		benign(0.079)	.	ENSP00000341781		CCDS41963.1			1	
CMA1	0	LGGM	GRCh37	14	24975258	24975258	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	3	.	.	ENST00000250378.3:c.576C>A	p.Pro192=	p.P192=	ENST00000250378	NM_001836.3	192	ccC/ccA	0	1	1	UPI000012EDED	0		ENST00000250378		ENSG00000092009	2097		28			HGNC	p.P81P		CMA1		SNV							ENST00000206446	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF17,SMART_domains:SM00020,Superfamily_domains:SSF50494		P		T		606/937				Q4FEB5_HUMAN,Q3SY37_HUMAN			YES	CMA1,synonymous_variant,p.=,ENST00000250378,NM_001836.3;CMA1,synonymous_variant,p.=,ENST00000206446,;RP11-80A15.1,intron_variant,,ENST00000555109,;							LOW	576/744		CMA1_HUMAN			Transcript			.	ENSP00000250378		CCDS9630.1			1	
GRIN1	0	LGGM	GRCh37	9	140042634	140042634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	3	.	.	ENST00000371553.3:c.601C>A	p.Gln201Lys	p.Q201K	ENST00000371553	NM_001185090.1	201	Caa/Aaa	0	1		UPI0000130282	0	getma.org/pdb.php?prot=Q5VSF5_HUMAN&from=38&to=378&var=Q201K	ENST00000371561		ENSG00000176884	4584		31	1.1		HGNC	p.Q201K		GRIN1		SNV			1				ENST00000371560	protein_coding	getma.org/?cm=var&var=hg19,9,140042634,C,A&fts=all						A	low	-/5142		getma.org/?cm=msa&ty=f&p=Q5VSF5_HUMAN&rb=38&re=378&var=Q201K						GRIN1,missense_variant,p.Gln201Lys,ENST00000371546,;GRIN1,missense_variant,p.Gln201Lys,ENST00000371555,;GRIN1,missense_variant,p.Gln201Lys,ENST00000371553,NM_001185090.1;GRIN1,missense_variant,p.Gln201Lys,ENST00000371560,NM_001185091.1;GRIN1,intron_variant,,ENST00000371561,NM_007327.3;GRIN1,intron_variant,,ENST00000315048,;GRIN1,intron_variant,,ENST00000350902,;GRIN1,intron_variant,,ENST00000371550,NM_021569.3;GRIN1,intron_variant,,ENST00000371559,NM_000832.6;GRIN1,non_coding_transcript_exon_variant,,ENST00000471122,;							MODIFIER	-/2817	Q201K	NMDZ1_HUMAN			Transcript			.	ENSP00000360616		CCDS7031.1			1	
BASP1	0	LGGM	GRCh37	5	17275983	17275983	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	17	3	.	.	ENST00000322611.3:c.658G>T	p.Asp220Tyr	p.D220Y	ENST00000322611	NM_006317.4	220	Gac/Tac	0	1	1	UPI0000140E98	0	NA	ENST00000322611		ENSG00000176788	957		20	1.24		HGNC	p.D220Y		BASP1		SNV							ENST00000322611	protein_coding	getma.org/?cm=var&var=hg19,5,17275983,G,T&fts=all		hmmpanther:PTHR23212:SF0,hmmpanther:PTHR23212,Pfam_domain:PF05466		D/Y		T	low	918/1878		getma.org/?cm=msa&ty=f&p=BASP1_HUMAN&rb=2&re=227&var=D220Y	deleterious(0)	U3KQP0_HUMAN			YES	BASP1,missense_variant,p.Asp220Tyr,ENST00000322611,NM_006317.4,NM_001271606.1;BASP1,downstream_gene_variant,,ENST00000606445,;							MODERATE	658/684	D220Y	BASP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000319281		CCDS3888.1			1	
PTCHD2	0	LGGM	GRCh37	1	11561723	11561723	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	19	3	.	.	ENST00000294484.6:c.674G>T	p.Arg225Leu	p.R225L	ENST00000294484	NM_020780.1	225	cGg/cTg	0	1	1	UPI00001C1D7A	0	NA	ENST00000294484		ENSG00000204624	29251		22	0		HGNC	p.R225L		PTCHD2		SNV							ENST00000294484	protein_coding	getma.org/?cm=var&var=hg19,1,11561723,G,T&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF49		R/L		T	neutral	812/5215		getma.org/?cm=msa&ty=f&p=PTHD2_HUMAN&rb=86&re=285&var=R225L	tolerated(0.32)				YES	PTCHD2,missense_variant,p.Arg225Leu,ENST00000294484,NM_020780.1;PTCHD2,missense_variant,p.Arg225Leu,ENST00000389575,;							MODERATE	674/4179	R225L	PTHD2_HUMAN			Transcript		benign(0.022)	.	ENSP00000294484		CCDS41247.1			1	
KIF1C	0	LGGM	GRCh37	17	4927140	4927140	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	3	.	.	ENST00000320785.5:c.3006G>T	p.Pro1002=	p.P1002=	ENST00000320785	NM_006612.5	1002	ccG/ccT	0	1	1	UPI0000001C26	0		ENST00000320785		ENSG00000129250	6317		24			HGNC	p.P1002P		KIF1C		SNV			1				ENST00000320785	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322		P		T		3363/7919				I3L1B1_HUMAN			YES	KIF1C,synonymous_variant,p.=,ENST00000320785,NM_006612.5;AC109333.10,upstream_gene_variant,,ENST00000438266,;KIF1C,downstream_gene_variant,,ENST00000573815,;							LOW	3006/3312		KIF1C_HUMAN			Transcript			.	ENSP00000320821		CCDS11065.1			1	
CELA2B	0	LGGM	GRCh37	1	15813789	15813789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	37	3	.	.	ENST00000375910.3:c.649G>T	p.Gly217Cys	p.G217C	ENST00000375910	NM_015849.2	217	Ggt/Tgt	0	1	1	UPI00000724AA	0	getma.org/pdb.php?prot=CEL2B_HUMAN&from=29&to=262&var=G217C	ENST00000375910		ENSG00000215704	29995		40	4.58		HGNC	p.G217C		CELA2B		SNV							ENST00000375910	protein_coding	getma.org/?cm=var&var=hg19,1,15813789,G,T&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_patterns:PS00135,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494		G/C		T	high	674/923		getma.org/?cm=msa&ty=f&p=CEL2B_HUMAN&rb=29&re=262&var=G217C	deleterious(0.02)				YES	CELA2B,missense_variant,p.Gly217Cys,ENST00000375910,NM_015849.2;CASP9,downstream_gene_variant,,ENST00000546424,NM_001229.4;CASP9,downstream_gene_variant,,ENST00000333868,;CASP9,downstream_gene_variant,,ENST00000348549,NM_001278054.1;CELA2B,downstream_gene_variant,,ENST00000422901,;CELA2B,non_coding_transcript_exon_variant,,ENST00000488764,;CELA2B,downstream_gene_variant,,ENST00000494280,;							MODERATE	649/810	G217C	CEL2B_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000365075		CCDS30605.1			1	
KDM4B	0	LGGM	GRCh37	19	5134023	5134023	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000159111.4:c.2036G>T	p.Arg679Leu	p.R679L	ENST00000159111	NM_015015.2	679	cGc/cTc	0	1	1	UPI00001C202B	0	NA	ENST00000159111		ENSG00000127663	29136		36	-0.895		HGNC	p.R713L		KDM4B		SNV							ENST00000536461	protein_coding	getma.org/?cm=var&var=hg19,19,5134023,G,T&fts=all		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30		R/L		T	neutral	2254/5593		getma.org/?cm=msa&ty=f&p=KDM4B_HUMAN&rb=493&re=692&var=R679L		K7ES23_HUMAN			YES	KDM4B,missense_variant,p.Arg679Leu,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Arg713Leu,ENST00000536461,;KDM4B,missense_variant,p.Arg425Leu,ENST00000588361,;KDM4B,upstream_gene_variant,,ENST00000588166,;KDM4B,non_coding_transcript_exon_variant,,ENST00000589104,;							MODERATE	2036/3291	R679L	KDM4B_HUMAN			Transcript		benign(0)	.	ENSP00000159111		CCDS12138.1			1	
ABCC12	0	LGGM	GRCh37	16	48177962	48177962	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	27	3	.	.	ENST00000311303.3:c.134C>A	p.Pro45Gln	p.P45Q	ENST00000311303	NM_033226.2	45	cCg/cAg	0	1	1	UPI0000456987	0	NA	ENST00000311303		ENSG00000140798	14640		30	3.06		HGNC	p.P45Q		ABCC12		SNV							ENST00000532494	protein_coding	getma.org/?cm=var&var=hg19,16,48177962,G,T&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10		P/Q		T	medium	480/5168		getma.org/?cm=msa&ty=f&p=MRP9_HUMAN&rb=1&re=122&var=P45Q	deleterious(0)	E9PHY2_HUMAN			YES	ABCC12,missense_variant,p.Pro45Gln,ENST00000311303,NM_033226.2;ABCC12,missense_variant,p.Pro45Gln,ENST00000416054,;ABCC12,missense_variant,p.Pro45Gln,ENST00000448542,;ABCC12,missense_variant,p.Pro45Gln,ENST00000527640,;ABCC12,missense_variant,p.Pro45Gln,ENST00000529084,;ABCC12,missense_variant,p.Pro45Gln,ENST00000534418,;ABCC12,missense_variant,p.Pro45Gln,ENST00000497206,;ABCC12,missense_variant,p.Pro45Gln,ENST00000532494,;ABCC12,missense_variant,p.Pro45Gln,ENST00000529504,;ABCC12,missense_variant,p.Pro45Gln,ENST00000533639,;ABCC12,non_coding_transcript_exon_variant,,ENST00000528693,;							MODERATE	134/4080	P45Q	MRP9_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000311030		CCDS10730.1			1	
PPAN-P2RY11	0	LGGM	GRCh37	19	10221730	10221730	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	17	3	.	.	ENST00000393796.4:c.1279+32C>A		*427*	ENST00000393796				0	1		UPI000016A418	0		ENST00000393796		ENSG00000243207	33526		20			HGNC	p.P437P		PPAN-P2RY11		SNV							ENST00000253107	protein_coding							A		-/2385							YES	PPAN-P2RY11,synonymous_variant,p.=,ENST00000428358,NM_001198690.1,NM_001040664.2;PPAN,synonymous_variant,p.=,ENST00000253107,NM_020230.5;PPAN,synonymous_variant,p.=,ENST00000393793,;PPAN,synonymous_variant,p.=,ENST00000444703,;PPAN,intron_variant,,ENST00000556468,;PPAN-P2RY11,intron_variant,,ENST00000393796,;P2RY11,upstream_gene_variant,,ENST00000321826,NM_002566.4;EIF3G,downstream_gene_variant,,ENST00000253108,NM_003755.3;EIF3G,downstream_gene_variant,,ENST00000589454,;PPAN,downstream_gene_variant,,ENST00000446223,;EIF3G,downstream_gene_variant,,ENST00000588709,;EIF3G,downstream_gene_variant,,ENST00000587146,;PPAN,downstream_gene_variant,,ENST00000430370,;EIF3G,downstream_gene_variant,,ENST00000593054,;SNORD105,downstream_gene_variant,,ENST00000386910,NR_004381.1;SNORD105B,downstream_gene_variant,,ENST00000458770,NR_003688.1;P2RY11,upstream_gene_variant,,ENST00000471843,;PPAN,non_coding_transcript_exon_variant,,ENST00000486482,;EIF3G,downstream_gene_variant,,ENST00000589009,;EIF3G,downstream_gene_variant,,ENST00000590158,;PPAN,downstream_gene_variant,,ENST00000468881,;PPAN,downstream_gene_variant,,ENST00000466025,;							MODIFIER	-/2385					Transcript			.	ENSP00000377385		CCDS42498.1			1	
TEP1	0	LGGM	GRCh37	14	20859199	20859199	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	35	3	.	.	ENST00000262715.5:c.2154G>T	p.Gln718His	p.Q718H	ENST00000262715	NM_007110.4	718	caG/caT	0	1	1	UPI000013D30B	0	NA	ENST00000262715		ENSG00000129566	11726		38	1.175		HGNC	p.Q68H		TEP1		SNV							ENST00000555008	protein_coding	getma.org/?cm=var&var=hg19,14,20859199,C,A&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402		Q/H		A	low	2195/10695		getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=677&re=876&var=Q718H	tolerated(0.19)	G3V591_HUMAN			YES	TEP1,missense_variant,p.Gln718His,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Gln610His,ENST00000556935,;TEP1,missense_variant,p.Gln718His,ENST00000555727,;TEP1,missense_variant,p.Gln68His,ENST00000555008,;							MODERATE	2154/7884	Q718H	TEP1_HUMAN			Transcript		benign(0.008)	.	ENSP00000262715		CCDS9548.1			1	
SMPDL3B	0	LGGM	GRCh37	1	28285067	28285067	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	31	3	.	.	ENST00000373894.3:c.1086C>A	p.Thr362=	p.T362=	ENST00000373894	NM_014474.2	362	acC/acA	0	1	1	UPI00004700F5	0		ENST00000373894		ENSG00000130768	21416		34			HGNC	p.T314T		SMPDL3B		SNV							ENST00000549094	protein_coding			PIRSF_domain:PIRSF036767,hmmpanther:PTHR10340,hmmpanther:PTHR10340:SF25		T		A		1277/1878				B4DEC6_HUMAN			YES	SMPDL3B,synonymous_variant,p.=,ENST00000373894,NM_014474.2;SMPDL3B,synonymous_variant,p.=,ENST00000549094,;XKR8,upstream_gene_variant,,ENST00000373884,NM_018053.2;SMPDL3B,downstream_gene_variant,,ENST00000373888,NM_001009568.1;SMPDL3B,downstream_gene_variant,,ENST00000411604,;RP11-460I13.2,intron_variant,,ENST00000448015,;SMPDL3B,3_prime_UTR_variant,,ENST00000548116,;							LOW	1086/1368		ASM3B_HUMAN			Transcript			.	ENSP00000363001		CCDS30655.1			1	
LATS2	0	LGGM	GRCh37	13	21555724	21555724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	43	3	.	.	ENST00000382592.4:c.2546G>T	p.Arg849Leu	p.R849L	ENST00000382592	NM_014572.2	849	cGg/cTg	0	1	1	UPI000013DBF5	0	getma.org/pdb.php?prot=LATS2_HUMAN&from=668&to=973&var=R849L	ENST00000382592		ENSG00000150457	6515		46	0.345		HGNC	p.R849L	rs753361598	LATS2		SNV							ENST00000382592	protein_coding	getma.org/?cm=var&var=hg19,13,21555724,C,A&fts=all		SMART_domains:SM00220,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149,PROSITE_profiles:PS50011		R/L		A	neutral	2952/5511	1.51E-05	getma.org/?cm=msa&ty=f&p=LATS2_HUMAN&rb=668&re=973&var=R849L	deleterious(0)				YES	LATS2,missense_variant,p.Arg849Leu,ENST00000382592,NM_014572.2;LATS2,missense_variant,p.Arg849Leu,ENST00000542899,;							MODERATE	2546/3267	R849L	LATS2_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000372035	8.24E-06	CCDS9294.1			1	
OXA1L	0	LGGM	GRCh37	14	23237287	23237287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000285848.5:c.526C>A	p.Leu176Met	p.L176M	ENST00000285848	NM_005015.3	176	Ctg/Atg	0	1	1	UPI000013DE11	0	NA	ENST00000285848		ENSG00000155463	8526		36	2.755		HGNC	p.L176M		OXA1L		SNV							ENST00000285848	protein_coding	getma.org/?cm=var&var=hg19,14,23237287,C,A&fts=all		hmmpanther:PTHR12428:SF16,hmmpanther:PTHR12428		L/M		A	medium	526/1728		getma.org/?cm=msa&ty=f&p=OXA1L_HUMAN&rb=40&re=138&var=L116M	deleterious(0)	S4R3Q9_HUMAN,J3KNA0_HUMAN,C9JC63_HUMAN			YES	OXA1L,missense_variant,p.Leu100Met,ENST00000358043,;OXA1L,missense_variant,p.Leu176Met,ENST00000285848,NM_005015.3;OXA1L,missense_variant,p.Leu116Met,ENST00000604262,;OXA1L,missense_variant,p.Leu116Met,ENST00000412791,;OXA1L,5_prime_UTR_variant,,ENST00000431881,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554857,;CTD-2555K7.2,upstream_gene_variant,,ENST00000553792,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554730,;OXA1L,3_prime_UTR_variant,,ENST00000442110,;OXA1L,non_coding_transcript_exon_variant,,ENST00000495424,;OXA1L,non_coding_transcript_exon_variant,,ENST00000481218,;OXA1L,non_coding_transcript_exon_variant,,ENST00000483939,;OXA1L,non_coding_transcript_exon_variant,,ENST00000473744,;OXA1L,non_coding_transcript_exon_variant,,ENST00000556473,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554194,;OXA1L,downstream_gene_variant,,ENST00000557299,;							MODERATE	526/1488	L116M				Transcript		probably_damaging(0.996)	.	ENSP00000285848		CCDS9573.1			1	
FBXO2	0	LGGM	GRCh37	1	11708785	11708785	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	3	.	.	ENST00000354287.4:c.857G>T	p.Arg286Leu	p.R286L	ENST00000354287	NM_012168.5	286	cGg/cTg	0	1	1	UPI00000711D1	0	getma.org/pdb.php?prot=FBX2_HUMAN&from=110&to=296&var=R286L	ENST00000354287		ENSG00000116661	13581		23	2.24		HGNC	p.R286L		FBXO2		SNV							ENST00000354287	protein_coding	getma.org/?cm=var&var=hg19,1,11708785,C,A&fts=all		PROSITE_profiles:PS51114,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF8,Gene3D:2.60.120.260,Pfam_domain:PF04300,Superfamily_domains:SSF49785		R/L		A	medium	1199/1560		getma.org/?cm=msa&ty=f&p=FBX2_HUMAN&rb=110&re=296&var=R286L	deleterious(0)				YES	FBXO2,missense_variant,p.Arg286Leu,ENST00000354287,NM_012168.5;FBXO2,downstream_gene_variant,,ENST00000465901,;FBXO2,downstream_gene_variant,,ENST00000475961,;FBXO2,downstream_gene_variant,,ENST00000466919,;FBXO2,downstream_gene_variant,,ENST00000471501,;							MODERATE	857/891	R286L	FBX2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346240		CCDS130.1			1	
WDR31	0	LGGM	GRCh37	9	116085164	116085164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000374193.4:c.497G>T	p.Arg166Leu	p.R166L	ENST00000374193	NM_145241.3	166	cGg/cTg	0	1	1	UPI000006D080	0	getma.org/pdb.php?prot=WDR31_HUMAN&from=136&to=174&var=R166L	ENST00000374193		ENSG00000148225	21421		36	0.245		HGNC	p.R98L		WDR31		SNV							ENST00000465979	protein_coding	getma.org/?cm=var&var=hg19,9,116085164,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19869,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/L		A	neutral	744/4878		getma.org/?cm=msa&ty=f&p=WDR31_HUMAN&rb=136&re=174&var=R166L	deleterious(0)	G5E996_HUMAN			YES	WDR31,missense_variant,p.Arg166Leu,ENST00000374193,NM_145241.3,NM_001012361.2;WDR31,missense_variant,p.Arg165Leu,ENST00000341761,;WDR31,missense_variant,p.Arg41Leu,ENST00000374195,;WDR31,missense_variant,p.Arg98Leu,ENST00000465979,;WDR31,non_coding_transcript_exon_variant,,ENST00000461942,;WDR31,3_prime_UTR_variant,,ENST00000465205,;							MODERATE	497/1104	R166L	WDR31_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363308		CCDS35110.1			1	
YBX1	0	LGGM	GRCh37	1	43162909	43162909	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	45	3	.	.	ENST00000321358.7:c.716G>T	p.Arg239Leu	p.R239L	ENST00000321358	NM_004559.3	239	cGg/cTg	0	1	1	UPI0000001C6B	0	NA	ENST00000321358		ENSG00000065978	8014		48	2.33		HGNC	p.R209L		YBX1		SNV							ENST00000332220	protein_coding	getma.org/?cm=var&var=hg19,1,43162909,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11544		R/L		T	medium	855/1514		getma.org/?cm=msa&ty=f&p=YBOX1_HUMAN&rb=129&re=324&var=R239L	tolerated(0.22)	A0JLU4_HUMAN			YES	YBX1,missense_variant,p.Arg289Leu,ENST00000436427,;YBX1,missense_variant,p.Arg239Leu,ENST00000321358,NM_004559.3;YBX1,missense_variant,p.Arg209Leu,ENST00000332220,;YBX1,downstream_gene_variant,,ENST00000467957,;							MODERATE	716/975	R239L	YBOX1_HUMAN			Transcript		benign(0.033)	.	ENSP00000361626		CCDS470.1			1	
HDHD3	0	LGGM	GRCh37	9	116135970	116135970	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	3	.	.	ENST00000238379.5:c.665G>T	p.Arg222Met	p.R222M	ENST00000238379	NM_031219.2	222	aGg/aTg	0	1	1	UPI0000073CC1	0	getma.org/pdb.php?prot=HDHD3_HUMAN&from=212&to=251&var=R222M	ENST00000238379		ENSG00000119431	28171		23	0.345		HGNC	p.R222M		HDHD3		SNV							ENST00000374180	protein_coding	getma.org/?cm=var&var=hg19,9,116135970,C,A&fts=all		hmmpanther:PTHR12725,hmmpanther:PTHR12725:SF57,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784		R/M		A	neutral	1563/1834		getma.org/?cm=msa&ty=f&p=HDHD3_HUMAN&rb=212&re=251&var=R222M	tolerated(0.06)				YES	HDHD3,missense_variant,p.Arg222Met,ENST00000238379,NM_031219.2;HDHD3,missense_variant,p.Arg222Met,ENST00000374180,;BSPRY,downstream_gene_variant,,ENST00000374183,NM_017688.2;BSPRY,downstream_gene_variant,,ENST00000462085,;HDHD3,downstream_gene_variant,,ENST00000485934,;							MODERATE	665/756	R222M	HDHD3_HUMAN			Transcript		benign(0.005)	.	ENSP00000238379		CCDS6793.1			1	
NAV1	0	LGGM	GRCh37	1	201786360	201786360	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	29	3	.	.	ENST00000367296.4:c.5485G>T	p.Glu1829Ter	p.E1829*	ENST00000367296	NM_020443.4	1829	Gag/Tag	0	1	1	UPI00004562D4	0	NA	ENST00000367296		ENSG00000134369	15989		32	0		HGNC	p.E1821X		NAV1		SNV							ENST00000367297	protein_coding	getma.org/?cm=var&var=hg19,1,201786360,G,T&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3		E/*		T	NA	5905/13091		NA					YES	NAV1,stop_gained,p.Glu1829Ter,ENST00000367296,NM_020443.4;NAV1,stop_gained,p.Glu1826Ter,ENST00000295624,;NAV1,stop_gained,p.Glu1821Ter,ENST00000367297,;NAV1,stop_gained,p.Glu1769Ter,ENST00000367300,;NAV1,stop_gained,p.Glu1435Ter,ENST00000367295,NM_001167738.1;NAV1,stop_gained,p.Glu1782Ter,ENST00000367302,;IPO9-AS1,non_coding_transcript_exon_variant,,ENST00000413035,;IPO9-AS1,non_coding_transcript_exon_variant,,ENST00000421449,;IPO9-AS1,downstream_gene_variant,,ENST00000421159,;							HIGH	5485/5634	E1829*	NAV1_HUMAN			Transcript			.	ENSP00000356265		CCDS1414.2			1	
NCOA3	0	LGGM	GRCh37	20	46281255	46281255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	42	3	.	.	ENST00000371998.3:c.4052C>A	p.Pro1351Gln	p.P1351Q	ENST00000371998		1351	cCg/cAg	0	1	1	UPI000012FE45	0	NA	ENST00000371998		ENSG00000124151	7670		45	2.075		HGNC	p.P1277Q		NCOA3		SNV							ENST00000341724	protein_coding	getma.org/?cm=var&var=hg19,20,46281255,C,A&fts=all		PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF3		P/Q		A	medium	4243/4668		getma.org/?cm=msa&ty=f&p=NCOA3_HUMAN&rb=1349&re=1424&var=P1351Q	deleterious(0)	Q569F6_HUMAN,B4DYT5_HUMAN			YES	NCOA3,missense_variant,p.Pro1347Gln,ENST00000372004,NM_006534.3,NM_181659.2,NM_001174088.1,NM_001174087.1;NCOA3,missense_variant,p.Pro1277Gln,ENST00000341724,;NCOA3,missense_variant,p.Pro1342Gln,ENST00000371997,;NCOA3,missense_variant,p.Pro1351Gln,ENST00000371998,;SULF2,downstream_gene_variant,,ENST00000359930,NM_018837.3;SULF2,downstream_gene_variant,,ENST00000484875,NM_198596.2,NM_001161841.1;SULF2,downstream_gene_variant,,ENST00000361612,;SULF2,downstream_gene_variant,,ENST00000495544,;SULF2,downstream_gene_variant,,ENST00000479472,;SULF2,downstream_gene_variant,,ENST00000479970,;							MODERATE	4052/4275	P1351Q	NCOA3_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000361066		CCDS13407.1			1	
ZBTB7C	0	LGGM	GRCh37	18	45555762	45555762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	7	3	.	.	ENST00000588982.1:c.1729G>T	p.Ala577Ser	p.A577S	ENST00000588982		577	Gcg/Tcg	0	1		UPI0000073FE3	0	NA	ENST00000535628		ENSG00000184828	31700		10	0		HGNC	p.A577S		ZBTB7C		SNV							ENST00000332053	protein_coding	getma.org/?cm=var&var=hg19,18,45555762,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389		A/S		A	neutral	2100/4818		getma.org/?cm=msa&ty=f&p=ZBT7C_HUMAN&rb=577&re=619&var=A577S	deleterious_low_confidence(0.01)	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN				ZBTB7C,missense_variant,p.Ala577Ser,ENST00000588982,;ZBTB7C,missense_variant,p.Ala577Ser,ENST00000590800,;ZBTB7C,missense_variant,p.Ala577Ser,ENST00000586438,;ZBTB7C,missense_variant,p.Ala577Ser,ENST00000535628,NM_001039360.2;ZBTB7C,missense_variant,p.Ala577Ser,ENST00000332053,;							MODERATE	1729/1860	A577S	ZBT7C_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000439781		CCDS32830.1			1	
ABCC6	0	LGGM	GRCh37	16	16272791	16272791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	22	3	.	.	ENST00000205557.7:c.2279G>T	p.Arg760Leu	p.R760L	ENST00000205557	NM_001171.5	760	cGg/cTg	0	1	1	UPI00001AE5CA	0	getma.org/pdb.php?prot=MRP6_HUMAN&from=670&to=781&var=R760L	ENST00000205557		ENSG00000091262	57		25	2.575		HGNC	p.R760L		ABCC6		SNV			1				ENST00000456970	protein_coding	getma.org/?cm=var&var=hg19,16,16272791,C,A&fts=all		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		R/L		A	medium	2309/5747		getma.org/?cm=msa&ty=f&p=MRP6_HUMAN&rb=670&re=781&var=R760L	deleterious(0)				YES	ABCC6,missense_variant,p.Arg760Leu,ENST00000205557,NM_001171.5;ABCC6,downstream_gene_variant,,ENST00000574094,;ABCC6,missense_variant,p.Arg760Leu,ENST00000456970,;ABCC6,upstream_gene_variant,,ENST00000576683,;							MODERATE	2279/4512	R760L	MRP6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000205557		CCDS10568.1			1	
COG4	0	LGGM	GRCh37	16	70517858	70517858	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	31	3	.	.	ENST00000323786.5:c.1725G>T	p.Lys575Asn	p.K575N	ENST00000323786	NM_015386.2	575	aaG/aaT	0	1	1	UPI000059D3B0	0	getma.org/pdb.php?prot=COG4_HUMAN&from=499&to=698&var=K571N	ENST00000323786		ENSG00000103051	18620		34	1.655		HGNC	p.K575N		COG4		SNV			1				ENST00000323786	protein_coding	getma.org/?cm=var&var=hg19,16,70517858,C,A&fts=all		hmmpanther:PTHR24016:SF0,hmmpanther:PTHR24016		K/N		A	low	1747/2833		getma.org/?cm=msa&ty=f&p=COG4_HUMAN&rb=499&re=698&var=K571N	tolerated(0.24)	J3KRB5_HUMAN,J3KNI1_HUMAN,B4DDL2_HUMAN			YES	COG4,missense_variant,p.Lys575Asn,ENST00000323786,NM_015386.2,NM_001195139.1;FUK,downstream_gene_variant,,ENST00000288078,NM_145059.2;FUK,downstream_gene_variant,,ENST00000378912,;FUK,downstream_gene_variant,,ENST00000571514,;COG4,upstream_gene_variant,,ENST00000565715,;COG4,3_prime_UTR_variant,,ENST00000564415,;COG4,3_prime_UTR_variant,,ENST00000482252,;COG4,non_coding_transcript_exon_variant,,ENST00000530314,;COG4,non_coding_transcript_exon_variant,,ENST00000526700,;COG4,non_coding_transcript_exon_variant,,ENST00000564315,;FUK,downstream_gene_variant,,ENST00000464499,;FUK,downstream_gene_variant,,ENST00000485034,;FUK,downstream_gene_variant,,ENST00000498702,;							MODERATE	1725/2370	K571N				Transcript		benign(0.365)	.	ENSP00000315775		CCDS10892.2			1	
UBXN11	0	LGGM	GRCh37	1	26624542	26624542	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	26	3	.	.	ENST00000374222.1:c.211C>A	p.His71Asn	p.H71N	ENST00000374222		71	Cat/Aat	0	1		UPI00004700E1	0	NA	ENST00000374221		ENSG00000158062	30600		29	1.05		HGNC	p.H38N		UBXN11		SNV							ENST00000374217	protein_coding	getma.org/?cm=var&var=hg19,1,26624542,G,T&fts=all		hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF4		H/N		T	low	425/1792		getma.org/?cm=msa&ty=f&p=UBX11_HUMAN&rb=1&re=139&var=H71N	tolerated(0.36)					UBXN11,missense_variant,p.His71Asn,ENST00000374222,;UBXN11,missense_variant,p.His38Asn,ENST00000374217,NM_145345.2;UBXN11,missense_variant,p.His71Asn,ENST00000374221,NM_183008.2;UBXN11,missense_variant,p.His38Asn,ENST00000357089,;UBXN11,missense_variant,p.His33Asn,ENST00000374215,;UBXN11,missense_variant,p.His33Asn,ENST00000423664,;UBXN11,missense_variant,p.His38Asn,ENST00000452980,;UBXN11,missense_variant,p.His71Asn,ENST00000421827,;UBXN11,missense_variant,p.His38Asn,ENST00000442942,;UBXN11,5_prime_UTR_variant,,ENST00000374223,;UBXN11,5_prime_UTR_variant,,ENST00000436301,;UBXN11,5_prime_UTR_variant,,ENST00000450041,;UBXN11,intron_variant,,ENST00000314675,NM_001077262.1;UBXN11,intron_variant,,ENST00000535108,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;UBXN11,upstream_gene_variant,,ENST00000496466,;							MODERATE	211/1563	H71N	UBX11_HUMAN			Transcript		benign(0.006)	.	ENSP00000363338		CCDS41288.1			1	
TSSC1	0	LGGM	GRCh37	2	3261190	3261190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	3	.	.	ENST00000382125.4:c.296G>T	p.Trp99Leu	p.W99L	ENST00000382125	NM_003310.2	99	tGg/tTg	0	1	1	UPI000006DFE1	0	NA	ENST00000382125		ENSG00000032389	12383		28	1.48		HGNC	p.W126L		TSSC1		SNV							ENST00000398659	protein_coding	getma.org/?cm=var&var=hg19,2,3261190,C,A&fts=all		Superfamily_domains:0049172,Gene3D:2.130.10.10,hmmpanther:PTHR14205:SF15,hmmpanther:PTHR14205		W/L		A	low	489/1766		getma.org/?cm=msa&ty=f&p=TSSC1_HUMAN&rb=1&re=200&var=W99L	tolerated(0.06)				YES	TSSC1,missense_variant,p.Trp126Leu,ENST00000398659,;TSSC1,missense_variant,p.Trp99Leu,ENST00000443925,;TSSC1,missense_variant,p.Trp99Leu,ENST00000382125,NM_003310.2;TSSC1,missense_variant,p.Trp133Leu,ENST00000444776,;TSSC1,intron_variant,,ENST00000441271,;TSSC1,non_coding_transcript_exon_variant,,ENST00000478754,;TSSC1,non_coding_transcript_exon_variant,,ENST00000462515,;TSSC1,intron_variant,,ENST00000463662,;TSSC1,3_prime_UTR_variant,,ENST00000406835,;TSSC1,non_coding_transcript_exon_variant,,ENST00000482570,;TSSC1,intron_variant,,ENST00000455162,;TSSC1,intron_variant,,ENST00000435721,;							MODERATE	296/1164	W99L	TSSC1_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000371559		CCDS1651.1			1	
CCDC74B	0	LGGM	GRCh37	2	130900421	130900421	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	15	3	.	.	ENST00000310463.6:c.295+421C>A		*99*	ENST00000310463	NM_207310.2			0	1	1	UPI000006D822	0		ENST00000310463		ENSG00000152076	25267		18			HGNC	p.H45Q		CCDC74B		SNV							ENST00000392984	protein_coding							T		-/1549							YES	CCDC74B,missense_variant,p.His45Gln,ENST00000392984,;CCDC74B,3_prime_UTR_variant,,ENST00000409234,;CCDC74B,intron_variant,,ENST00000310463,NM_207310.2;CCDC74B,intron_variant,,ENST00000409943,NM_001258307.1;CCDC74B,intron_variant,,ENST00000409128,;CCDC74B,intron_variant,,ENST00000457413,;CCDC74B,downstream_gene_variant,,ENST00000441670,;MED15P9,downstream_gene_variant,,ENST00000427638,;CCDC74B,non_coding_transcript_exon_variant,,ENST00000496704,;CCDC74B,intron_variant,,ENST00000423263,;CCDC74B,intron_variant,,ENST00000434929,;CCDC74B,upstream_gene_variant,,ENST00000498526,;							MODIFIER	-/1143		CC74B_HUMAN			Transcript			.	ENSP00000308873		CCDS2155.1			1	
ZCCHC5	0	LGGM	GRCh37	X	77913182	77913182	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	9	3	.	.	ENST00000321110.1:c.736G>T	p.Gly246Ter	p.G246*	ENST00000321110	NM_152694.2	246	Gga/Tga	0	1	1	UPI00000710DD	0	NA	ENST00000321110		ENSG00000179300	22997		12	0		HGNC	p.G246X		ZCCHC5		SNV							ENST00000321110	protein_coding	getma.org/?cm=var&var=hg19,X,77913182,C,A&fts=all		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF7		G/*		A	NA	1032/2648		NA					YES	ZCCHC5,stop_gained,p.Gly246Ter,ENST00000321110,NM_152694.2;							HIGH	736/1428	G246*	ZCHC5_HUMAN			Transcript			.	ENSP00000316794		CCDS14440.1			1	
TMEM173	0	LGGM	GRCh37	5	138860819	138860819	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	3	.	.	ENST00000330794.4:c.336G>T	p.Ala112=	p.A112=	ENST00000330794	NM_198282.2	112	gcG/gcT	0	1	1	UPI000000DC5E	0		ENST00000330794		ENSG00000184584	27962		28			HGNC	p.A112A		TMEM173		SNV							ENST00000510817	protein_coding			Pfam_domain:PF15009		A		A		670/1771				J3QTB1_HUMAN			YES	TMEM173,synonymous_variant,p.=,ENST00000330794,NM_198282.2;TMEM173,synonymous_variant,p.=,ENST00000510817,;TMEM173,non_coding_transcript_exon_variant,,ENST00000511850,;TMEM173,non_coding_transcript_exon_variant,,ENST00000512606,;TMEM173,non_coding_transcript_exon_variant,,ENST00000511886,;TMEM173,non_coding_transcript_exon_variant,,ENST00000515507,;TMEM173,downstream_gene_variant,,ENST00000514542,;TMEM173,non_coding_transcript_exon_variant,,ENST00000507297,;TMEM173,non_coding_transcript_exon_variant,,ENST00000514119,;TMEM173,non_coding_transcript_exon_variant,,ENST00000509573,;TMEM173,non_coding_transcript_exon_variant,,ENST00000503287,;TMEM173,non_coding_transcript_exon_variant,,ENST00000503838,;TMEM173,downstream_gene_variant,,ENST00000514348,;TMEM173,upstream_gene_variant,,ENST00000502825,;TMEM173,downstream_gene_variant,,ENST00000502362,;							LOW	336/1140		STING_HUMAN			Transcript			.	ENSP00000331288		CCDS4215.1			1	
MAPK8IP1	0	LGGM	GRCh37	11	45926056	45926056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	22	3	.	.	ENST00000241014.2:c.1717G>T	p.Gly573Cys	p.G573C	ENST00000241014	NM_005456.3	573	Ggc/Tgc	0	1	1	UPI000003046D	0	getma.org/pdb.php?prot=JIP1_HUMAN&from=567&to=701&var=G573C	ENST00000241014		ENSG00000121653	6882		25	3.065		HGNC	p.G563C		MAPK8IP1		SNV			1				ENST00000395629	protein_coding	getma.org/?cm=var&var=hg19,11,45926056,G,T&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF44,SMART_domains:SM00462,Superfamily_domains:SSF50729		G/C		T	medium	1887/3050		getma.org/?cm=msa&ty=f&p=JIP1_HUMAN&rb=567&re=701&var=G573C	deleterious(0)	Q59EU1_HUMAN,B4DJ64_HUMAN			YES	MAPK8IP1,missense_variant,p.Gly563Cys,ENST00000395629,;MAPK8IP1,missense_variant,p.Gly573Cys,ENST00000241014,NM_005456.3;C11orf94,downstream_gene_variant,,ENST00000449465,NM_001080446.2;RP11-618K13.2,downstream_gene_variant,,ENST00000533218,;MAPK8IP1,downstream_gene_variant,,ENST00000497090,;							MODERATE	1717/2136	G573C	JIP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000241014		CCDS7916.1			1	
C10orf90	0	LGGM	GRCh37	10	128193434	128193434	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	3	.	.	ENST00000284694.7:c.335C>A	p.Pro112Gln	p.P112Q	ENST00000284694	NM_001004298.2	112	cCg/cAg	0	1	1	UPI00001D808F	0	NA	ENST00000284694		ENSG00000154493	26563		36	1.67		HGNC	p.P112Q		C10orf90		SNV							ENST00000284694	protein_coding	getma.org/?cm=var&var=hg19,10,128193434,G,T&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF10		P/Q		T	low	456/3076		getma.org/?cm=msa&ty=f&p=CJ090_HUMAN&rb=1&re=697&var=P112Q	deleterious(0.03)	S4R3N7_HUMAN,Q5T025_HUMAN			YES	C10orf90,missense_variant,p.Pro112Gln,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Pro65Gln,ENST00000356858,;C10orf90,missense_variant,p.Pro112Gln,ENST00000454341,;C10orf90,missense_variant,p.Pro209Gln,ENST00000544758,;C10orf90,missense_variant,p.Pro112Gln,ENST00000432642,;C10orf90,missense_variant,p.Pro65Gln,ENST00000392694,;C10orf90,missense_variant,p.Pro65Gln,ENST00000488181,;C10orf90,upstream_gene_variant,,ENST00000424927,;C10orf90,non_coding_transcript_exon_variant,,ENST00000368674,;C10orf90,downstream_gene_variant,,ENST00000463082,;							MODERATE	335/2100	P112Q	CJ090_HUMAN			Transcript		benign(0.032)	.	ENSP00000284694		CCDS31310.1			1	
CASS4	0	LGGM	GRCh37	20	55027809	55027809	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	30	3	.	.	ENST00000371336.3:c.1577C>A	p.Ser526Tyr	p.S526Y	ENST00000371336	NM_001164114.1	526	tCc/tAc	0	1		UPI00001285DB	0	getma.org/pdb.php?prot=CASS4_HUMAN&from=435&to=593&var=S526Y	ENST00000360314		ENSG00000087589	15878		33	2.545		HGNC	p.S526Y		CASS4		SNV							ENST00000371336	protein_coding	getma.org/?cm=var&var=hg19,20,55027809,C,A&fts=all		hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654,Pfam_domain:PF08824		S/Y		A	medium	1802/2619		getma.org/?cm=msa&ty=f&p=CASS4_HUMAN&rb=435&re=593&var=S526Y	deleterious(0)					CASS4,missense_variant,p.Ser526Tyr,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,missense_variant,p.Ser526Tyr,ENST00000360314,NM_001164116.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;							MODERATE	1577/2361	S526Y	CASS4_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000353462		CCDS33492.1			1	
ITPRIPL2	0	LGGM	GRCh37	16	19126295	19126295	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	9	3	.	.	ENST00000381440.3:c.512C>T	p.Pro171Leu	p.P171L	ENST00000381440	NM_001034841.3	171	cCc/cTc	0	1	1	UPI000023760C	0	NA	ENST00000381440		ENSG00000205730	27257		12	0.895		HGNC	p.P171L		ITPRIPL2		SNV							ENST00000381440	protein_coding	getma.org/?cm=var&var=hg19,16,19126295,C,T&fts=all		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF9		P/L		T	low	1042/7693		getma.org/?cm=msa&ty=f&p=IPIL2_HUMAN&rb=1&re=200&var=P171L	deleterious(0)				YES	ITPRIPL2,missense_variant,p.Pro171Leu,ENST00000381440,NM_001034841.3;ITPRIPL2,3_prime_UTR_variant,,ENST00000566735,;CTD-2349B8.1,intron_variant,,ENST00000564808,;CTD-2349B8.1,intron_variant,,ENST00000568526,;							MODERATE	512/1608	P171L	IPIL2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000370849		CCDS32395.1			1	
DDX19B	0	LGGM	GRCh37	16	70363205	70363205	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	44	3	.	.	ENST00000288071.6:c.618C>A	p.Gly206=	p.G206=	ENST00000288071	NM_007242.5	206	ggC/ggA	0	1	1	UPI000012907F	0		ENST00000288071		ENSG00000157349	2742		47			HGNC	p.G180G		DDX19B		SNV							ENST00000451014	protein_coding			PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF194,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540		G		A		863/3386				Q2NL95_HUMAN,H3BN59_HUMAN,B4DL69_HUMAN			YES	DDX19B,synonymous_variant,p.=,ENST00000288071,NM_007242.5;DDX19B,synonymous_variant,p.=,ENST00000563206,;DDX19B,synonymous_variant,p.=,ENST00000563392,NM_001257174.1;DDX19B,synonymous_variant,p.=,ENST00000393657,NM_001014449.2,NM_001257175.1;DDX19B,synonymous_variant,p.=,ENST00000355992,NM_001014451.2;DDX19B,synonymous_variant,p.=,ENST00000568625,NM_001257173.1;DDX19B,synonymous_variant,p.=,ENST00000451014,NM_001257172.1;DDX19B,synonymous_variant,p.=,ENST00000566216,;RP11-529K1.3,intron_variant,,ENST00000567706,;RP11-529K1.2,intron_variant,,ENST00000562077,;DDX19B,3_prime_UTR_variant,,ENST00000562519,;DDX19B,3_prime_UTR_variant,,ENST00000568408,;DDX19B,3_prime_UTR_variant,,ENST00000568008,;RP11-529K1.3,intron_variant,,ENST00000565116,;RP11-529K1.2,downstream_gene_variant,,ENST00000570278,;DDX19B,downstream_gene_variant,,ENST00000568460,;							LOW	618/1440		DD19B_HUMAN			Transcript			.	ENSP00000288071		CCDS10888.1			1	
AMBP	0	LGGM	GRCh37	9	116823695	116823695	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	18	3	.	.	ENST00000265132.3:c.853+9G>T		*285*	ENST00000265132	NM_001633.3			0	1	1	UPI000000D9AF	0		ENST00000265132		ENSG00000106927	453		21			HGNC	p.G229W		AMBP		SNV							ENST00000540645	protein_coding							A		-/1434				P78492_HUMAN			YES	AMBP,intron_variant,,ENST00000265132,NM_001633.3;AMBP,intron_variant,,ENST00000466610,;ZNF618,downstream_gene_variant,,ENST00000288466,NM_133374.2;AMBP,non_coding_transcript_exon_variant,,ENST00000540645,;AMBP,downstream_gene_variant,,ENST00000603230,;							MODIFIER	-/1059		AMBP_HUMAN			Transcript			.	ENSP00000265132		CCDS6800.1			1	
CHRNA1	0	LGGM	GRCh37	2	175613539	175613539	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	3	.	.	ENST00000261007.5:c.1086C>A	p.Ile362=	p.I362=	ENST00000261007	NM_001039523.2	362	atC/atA	0	1	1	UPI000012524E	0		ENST00000261007		ENSG00000138435	1955		44			HGNC	p.I362I		CHRNA1		SNV			1				ENST00000261007	protein_coding			hmmpanther:PTHR18945:SF74,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112		I		T		1153/1980				A9X444_HUMAN			YES	CHRNA1,synonymous_variant,p.=,ENST00000348749,NM_000079.3;CHRNA1,synonymous_variant,p.=,ENST00000261007,NM_001039523.2;CHRNA1,synonymous_variant,p.=,ENST00000409542,;CHRNA1,intron_variant,,ENST00000409219,;CHRNA1,downstream_gene_variant,,ENST00000409323,;AC018890.6,intron_variant,,ENST00000442996,;CHRNA1,3_prime_UTR_variant,,ENST00000435083,;							LOW	1086/1449		ACHA_HUMAN			Transcript			.	ENSP00000261007		CCDS33331.1			1	
NCAN	0	LGGM	GRCh37	19	19337802	19337802	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	18	3	.	.	ENST00000252575.6:c.1580C>T	p.Ala527Val	p.A527V	ENST00000252575	NM_004386.2	527	gCa/gTa	0	1	1	UPI000013CD70	0	NA	ENST00000252575		ENSG00000130287	2465		21	0.695		HGNC	p.A527V		NCAN		SNV							ENST00000252575	protein_coding	getma.org/?cm=var&var=hg19,19,19337802,C,T&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF24		A/V		T	neutral	1679/6387		getma.org/?cm=msa&ty=f&p=NCAN_HUMAN&rb=357&re=556&var=A527V	tolerated(0.15)	Q4LE67_HUMAN,F5H7X3_HUMAN			YES	NCAN,missense_variant,p.Ala527Val,ENST00000252575,NM_004386.2;NCAN,upstream_gene_variant,,ENST00000538881,;NCAN,non_coding_transcript_exon_variant,,ENST00000590187,;							MODERATE	1580/3966	A527V	NCAN_HUMAN			Transcript		benign(0.049)	.	ENSP00000252575		CCDS12397.1			1	
TACC2	0	LGGM	GRCh37	10	123844977	123844977	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	39	3	.	.	ENST00000369005.1:c.2962C>A	p.Gln988Lys	p.Q988K	ENST00000369005	NM_206862.2	988	Cag/Aag	0	1		UPI0000246F6B	0	NA	ENST00000334433		ENSG00000138162	11523		42	1.04		HGNC	p.Q988K		TACC2		SNV							ENST00000369005	protein_coding	getma.org/?cm=var&var=hg19,10,123844977,C,A&fts=all		hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		Q/K		A	low	3008/9377		getma.org/?cm=msa&ty=f&p=TACC2_HUMAN&rb=1&re=1559&var=Q988K						TACC2,missense_variant,p.Gln988Lys,ENST00000369005,NM_206862.2;TACC2,missense_variant,p.Gln988Lys,ENST00000334433,;TACC2,missense_variant,p.Gln988Lys,ENST00000515273,;TACC2,missense_variant,p.Gln988Lys,ENST00000515603,;TACC2,missense_variant,p.Gln988Lys,ENST00000453444,;TACC2,intron_variant,,ENST00000513429,NM_206861.1;TACC2,intron_variant,,ENST00000358010,;TACC2,downstream_gene_variant,,ENST00000491540,;							MODERATE	2962/8847	Q988K	TACC2_HUMAN			Transcript		possibly_damaging(0.577)	.	ENSP00000334280		CCDS7626.1			1	
CYFIP2	0	LGGM	GRCh37	5	156751025	156751025	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	3	.	.	ENST00000521420.1:c.1690G>T	p.Ala564Ser	p.A564S	ENST00000521420		564	Gcc/Tcc	0	1	1	UPI0001D55E6B	0	getma.org/pdb.php?prot=CYFP2_HUMAN&from=384&to=1248&var=A615S	ENST00000521420		ENSG00000055163	13760		31	0.805		HGNC	p.A564S		CYFIP2		SNV							ENST00000521420	protein_coding	getma.org/?cm=var&var=hg19,5,156751025,G,T&fts=all		hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994		A/S		T	low	1781/6370		getma.org/?cm=msa&ty=f&p=CYFP2_HUMAN&rb=384&re=1248&var=A615S	tolerated(0.74)	E7EVJ5_HUMAN			YES	CYFIP2,missense_variant,p.Ala590Ser,ENST00000347377,NM_001037332.2;CYFIP2,missense_variant,p.Ala590Ser,ENST00000377576,NM_014376.2;CYFIP2,missense_variant,p.Ala615Ser,ENST00000318218,;CYFIP2,missense_variant,p.Ala564Ser,ENST00000521420,;CYFIP2,missense_variant,p.Ala515Ser,ENST00000541131,;CYFIP2,missense_variant,p.Ala289Ser,ENST00000435847,;CYFIP2,missense_variant,p.Ala394Ser,ENST00000522463,;CYFIP2,5_prime_UTR_variant,,ENST00000442283,NM_001037333.1;CYFIP2,non_coding_transcript_exon_variant,,ENST00000520960,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,upstream_gene_variant,,ENST00000518555,;CYFIP2,upstream_gene_variant,,ENST00000520424,;							MODERATE	1690/3684	A615S				Transcript		benign(0.043)	.	ENSP00000430904					1	
PLCB1	0	LGGM	GRCh37	20	8722163	8722163	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	3	.	.	ENST00000338037.6:c.2466G>C	p.Gln822His	p.Q822H	ENST00000338037	NM_015192.3	822	caG/caC	0	1	1	UPI0000131A8F	0	getma.org/pdb.php?prot=PLCB1_HUMAN&from=761&to=902&var=Q822H	ENST00000338037		ENSG00000182621	15917		35	1.78		HGNC	p.Q822H		PLCB1		SNV			1				ENST00000378641	protein_coding	getma.org/?cm=var&var=hg19,20,8722163,G,C&fts=all		hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF12,PIRSF_domain:PIRSF000956		Q/H		C	low	2493/6729		getma.org/?cm=msa&ty=f&p=PLCB1_HUMAN&rb=761&re=902&var=Q822H	deleterious(0.01)				YES	PLCB1,missense_variant,p.Gln822His,ENST00000378641,NM_182734.2;PLCB1,missense_variant,p.Gln822His,ENST00000338037,NM_015192.3;PLCB1,missense_variant,p.Gln822His,ENST00000378637,;PLCB1,missense_variant,p.Gln141His,ENST00000439627,;PLCB1,non_coding_transcript_exon_variant,,ENST00000494924,;PLCB1,missense_variant,p.Gln563His,ENST00000487210,;							MODERATE	2466/3651	Q822H	PLCB1_HUMAN			Transcript		possibly_damaging(0.49)	.	ENSP00000338185		CCDS13102.1			1	
CDHR2	0	LGGM	GRCh37	5	176016553	176016553	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	3	.	.	ENST00000510636.1:c.3142C>A	p.Arg1048Ser	p.R1048S	ENST00000510636	NM_001171976.1	1048	Cgc/Agc	0	1		UPI0000DBEE8C	0	NA	ENST00000261944		ENSG00000074276	18231		24	1.7		HGNC	p.R1048S		CDHR2		SNV							ENST00000261944	protein_coding	getma.org/?cm=var&var=hg19,5,176016553,C,A&fts=all		SMART_domains:SM00112,hmmpanther:PTHR24027:SF286,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		R/S		A	low	3181/4068		getma.org/?cm=msa&ty=f&p=CDHR2_HUMAN&rb=930&re=1058&var=R1048S	deleterious(0)					CDHR2,missense_variant,p.Arg1048Ser,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Arg1048Ser,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Arg1048Ser,ENST00000506348,;CDHR2,non_coding_transcript_exon_variant,,ENST00000513031,;CDHR2,non_coding_transcript_exon_variant,,ENST00000508085,;CDHR2,upstream_gene_variant,,ENST00000416365,;							MODERATE	3142/3933	R1048S	CDHR2_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000261944		CCDS34297.1			1	
DIAPH1	0	LGGM	GRCh37	5	140953208	140953208	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	22	3	.	.	ENST00000398557.4:c.2209G>T	p.Gly737Cys	p.G737C	ENST00000398557	NM_005219.4	737	Ggc/Tgc	0	1		UPI0001E8F44E	0	NA	ENST00000389054		ENSG00000131504	2876		25	2.385		HGNC	p.G716C		DIAPH1		SNV			1				ENST00000398562	protein_coding	getma.org/?cm=var&var=hg19,5,140953208,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF06346		G/C		A	medium	2350/5786		getma.org/?cm=msa&ty=f&p=DIAP1_HUMAN&rb=613&re=764&var=G737C	tolerated(0.18)	Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E9PEZ3_HUMAN,E7ERW8_HUMAN,E5RJ79_HUMAN				DIAPH1,missense_variant,p.Gly737Cys,ENST00000253811,;DIAPH1,missense_variant,p.Gly737Cys,ENST00000398557,NM_005219.4;DIAPH1,missense_variant,p.Gly737Cys,ENST00000389054,;DIAPH1,missense_variant,p.Gly728Cys,ENST00000398566,;DIAPH1,missense_variant,p.Gly728Cys,ENST00000389057,NM_001079812.2;DIAPH1,missense_variant,p.Gly716Cys,ENST00000398562,;DIAPH1,missense_variant,p.Gly683Cys,ENST00000520569,;DIAPH1,missense_variant,p.Gly728Cys,ENST00000518047,;DIAPH1,missense_variant,p.Gly728Cys,ENST00000521457,;DIAPH1,downstream_gene_variant,,ENST00000523100,;DIAPH1,downstream_gene_variant,,ENST00000472516,;							MODERATE	2209/3810	G737C				Transcript		unknown(0)	.	ENSP00000373706					1	
WARS	0	LGGM	GRCh37	14	100835495	100835495	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	3	.	.	ENST00000355338.2:c.28C>A	p.Leu10Met	p.L10M	ENST00000355338	NM_173701.1	10	Ctg/Atg	0	1	1	UPI0000000E0E	0	getma.org/pdb.php?prot=SYWC_HUMAN&from=8&to=64&var=L10M	ENST00000355338		ENSG00000140105	12729		28	1.16		HGNC	p.L10M		WARS		SNV							ENST00000556209	protein_coding	getma.org/?cm=var&var=hg19,14,100835495,G,T&fts=all		PROSITE_profiles:PS51185,Gene3D:1.10.287.10,Superfamily_domains:SSF47060		L/M		T	low	647/3092		getma.org/?cm=msa&ty=f&p=SYWC_HUMAN&rb=8&re=64&var=L10M	tolerated_low_confidence(0.33)	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			YES	WARS,missense_variant,p.Leu10Met,ENST00000355338,NM_173701.1;WARS,missense_variant,p.Leu10Met,ENST00000392882,NM_004184.3;WARS,missense_variant,p.Leu10Met,ENST00000557135,;WARS,missense_variant,p.Leu10Met,ENST00000557722,;WARS,missense_variant,p.Leu10Met,ENST00000553524,;WARS,missense_variant,p.Leu10Met,ENST00000555410,;WARS,missense_variant,p.Leu10Met,ENST00000555031,;WARS,missense_variant,p.Leu10Met,ENST00000556698,;WARS,missense_variant,p.Leu10Met,ENST00000553545,;WARS,missense_variant,p.Leu10Met,ENST00000556660,;WARS,missense_variant,p.Leu10Met,ENST00000553581,;WARS,missense_variant,p.Leu10Met,ENST00000553413,;WARS,missense_variant,p.Leu10Met,ENST00000556209,;WARS,missense_variant,p.Leu10Met,ENST00000554509,;WARS,missense_variant,p.Leu10Met,ENST00000554772,;WARS,missense_variant,p.Leu10Met,ENST00000554605,;WARS,missense_variant,p.Leu10Met,ENST00000553769,;WARS,missense_variant,p.Leu10Met,ENST00000556695,;WARS,missense_variant,p.Leu10Met,ENST00000554820,;WARS,missense_variant,p.Leu10Met,ENST00000553934,;WARS,missense_variant,p.Leu10Met,ENST00000556295,;WARS,missense_variant,p.Leu10Met,ENST00000555813,;WARS,5_prime_UTR_variant,,ENST00000557297,;WARS,intron_variant,,ENST00000344102,NM_213646.1;WARS,intron_variant,,ENST00000556645,;WARS,intron_variant,,ENST00000358655,NM_213645.1;WARS,intron_variant,,ENST00000556504,;WARS,intron_variant,,ENST00000553395,;WARS,intron_variant,,ENST00000556338,;WARS,intron_variant,,ENST00000556435,;WARS,non_coding_transcript_exon_variant,,ENST00000557239,;WARS,downstream_gene_variant,,ENST00000555464,;WARS,missense_variant,p.Leu10Met,ENST00000557347,;WARS,missense_variant,p.Leu10Met,ENST00000556783,;WARS,non_coding_transcript_exon_variant,,ENST00000553808,;WARS,non_coding_transcript_exon_variant,,ENST00000554331,;WARS,non_coding_transcript_exon_variant,,ENST00000557094,;WARS,non_coding_transcript_exon_variant,,ENST00000556579,;WARS,intron_variant,,ENST00000555063,;RP11-638I2.10,downstream_gene_variant,,ENST00000557231,;							MODERATE	28/1416	L10M	SYWC_HUMAN			Transcript		benign(0.008)	.	ENSP00000347495		CCDS9960.1			1	
LCN12	0	LGGM	GRCh37	9	139847424	139847424	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	31	3	.	.	ENST00000371633.3:c.195C>A	p.Thr65=	p.T65=	ENST00000371633	NM_178536.3	65	acC/acA	0	1	1	UPI0000160E38	0		ENST00000371633		ENSG00000184925	28733		34			HGNC	p.T65T		LCN12		SNV							ENST00000371633	protein_coding			hmmpanther:PTHR11430:SF12,hmmpanther:PTHR11430,Pfam_domain:PF00061,Gene3D:2.40.128.20,Superfamily_domains:SSF50814		T		A		195/579							YES	LCN12,synonymous_variant,p.=,ENST00000371633,NM_178536.3;LCN12,upstream_gene_variant,,ENST00000371632,;LCN12,non_coding_transcript_exon_variant,,ENST00000463714,;LCN12,non_coding_transcript_exon_variant,,ENST00000491316,;LCN12,non_coding_transcript_exon_variant,,ENST00000491603,;LCN12,non_coding_transcript_exon_variant,,ENST00000484304,;LCN12,non_coding_transcript_exon_variant,,ENST00000492820,;LCN12,non_coding_transcript_exon_variant,,ENST00000496895,;LCN12,non_coding_transcript_exon_variant,,ENST00000495410,;LCN12,upstream_gene_variant,,ENST00000466277,;LCN12,upstream_gene_variant,,ENST00000476751,;LCN12,upstream_gene_variant,,ENST00000494713,;LCN12,upstream_gene_variant,,ENST00000480204,;LCN12,synonymous_variant,p.=,ENST00000471615,;LCN12,non_coding_transcript_exon_variant,,ENST00000470501,;							LOW	195/579		LCN12_HUMAN			Transcript			.	ENSP00000360696		CCDS7018.2			1	
MUC13	0	LGGM	GRCh37	3	124630961	124630961	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	29	3	.	.	ENST00000311075.3:c.1239C>A	p.Asp413Glu	p.D413E	ENST00000311075	NM_033049.3	413	gaC/gaA	0	1	1	UPI00001AEF8F	0	NA	ENST00000311075		ENSG00000173702	7511		32	1.355		HGNC	p.D413E		MUC13		SNV							ENST00000311075	protein_coding	getma.org/?cm=var&var=hg19,3,124630961,G,T&fts=all		hmmpanther:PTHR24041,hmmpanther:PTHR24041:SF21		D/E		T	low	1278/2876		getma.org/?cm=msa&ty=f&p=MUC13_HUMAN&rb=325&re=511&var=D413E	deleterious(0.02)				YES	MUC13,missense_variant,p.Asp413Glu,ENST00000311075,NM_033049.3;MUC13,downstream_gene_variant,,ENST00000478191,;MUC13,non_coding_transcript_exon_variant,,ENST00000462728,;							MODERATE	1239/1536	D413E	MUC13_HUMAN			Transcript		possibly_damaging(0.585)	.	ENSP00000312235					1	
ST14	0	LGGM	GRCh37	11	130060015	130060015	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	47	3	.	.	ENST00000278742.5:c.606C>A	p.Asp202Glu	p.D202E	ENST00000278742	NM_021978.3	202	gaC/gaA	0	1	1	UPI00000012E9	0	NA	ENST00000278742		ENSG00000149418	11344		50	2.34		HGNC	p.D104E		ST14		SNV			1				ENST00000525779	protein_coding	getma.org/?cm=var&var=hg19,11,130060015,C,A&fts=all		PIRSF_domain:PIRSF036370,hmmpanther:PTHR24256:SF20,hmmpanther:PTHR24256,PROSITE_profiles:PS50024		D/E		A	medium	1024/3539		getma.org/?cm=msa&ty=f&p=ST14_HUMAN&rb=164&re=252&var=D202E	deleterious(0)	Q8WVC1_HUMAN			YES	ST14,missense_variant,p.Asp202Glu,ENST00000278742,NM_021978.3;ST14,non_coding_transcript_exon_variant,,ENST00000530532,;ST14,non_coding_transcript_exon_variant,,ENST00000524718,;ST14,upstream_gene_variant,,ENST00000530376,;							MODERATE	606/2568	D202E	ST14_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000278742		CCDS8487.1			1	
FAM64A	0	LGGM	GRCh37	17	6350849	6350849	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	39	3	.	.	ENST00000250056.8:c.361C>A	p.Arg121=	p.R121=	ENST00000250056	NM_001195228.1	121	Cgg/Agg	0	1	1	UPI000006F065	0		ENST00000250056		ENSG00000129195	25483		42			HGNC	p.A100E		FAM64A		SNV							ENST00000573557	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF07326		R		A		444/1473							YES	FAM64A,synonymous_variant,p.=,ENST00000572447,NM_019013.2;FAM64A,synonymous_variant,p.=,ENST00000572595,;FAM64A,synonymous_variant,p.=,ENST00000250056,NM_001195228.1;FAM64A,synonymous_variant,p.=,ENST00000571373,;FAM64A,synonymous_variant,p.=,ENST00000571572,;FAM64A,synonymous_variant,p.=,ENST00000570337,;FAM64A,synonymous_variant,p.=,ENST00000576056,;PITPNM3,downstream_gene_variant,,ENST00000262483,NM_031220.3;PITPNM3,downstream_gene_variant,,ENST00000421306,NM_001165966.1;FAM64A,missense_variant,p.Ala100Glu,ENST00000573557,;FAM64A,non_coding_transcript_exon_variant,,ENST00000573385,;							LOW	361/747		FA64A_HUMAN			Transcript			.	ENSP00000250056		CCDS56016.1			1	
LBX1	0	LGGM	GRCh37	10	102987158	102987158	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	8	3	.	.	ENST00000370193.2:c.715C>A	p.Pro239Thr	p.P239T	ENST00000370193	NM_006562.4	239	Cca/Aca	0	1	1	UPI00001F95A1	0	NA	ENST00000370193		ENSG00000138136	16960		11	1.15		HGNC	p.P239T		LBX1		SNV							ENST00000370193	protein_coding	getma.org/?cm=var&var=hg19,10,102987158,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24336:SF7,hmmpanther:PTHR24336		P/T		T	low	1694/2119		getma.org/?cm=msa&ty=f&p=LBX1_HUMAN&rb=191&re=279&var=P239T	tolerated_low_confidence(0.37)	Q6LBH2_HUMAN			YES	LBX1,missense_variant,p.Pro239Thr,ENST00000370193,NM_006562.4;LBX1-AS1,upstream_gene_variant,,ENST00000454527,;LBX1-AS1,upstream_gene_variant,,ENST00000547077,;LBX1-AS1,upstream_gene_variant,,ENST00000546988,;							MODERATE	715/846	P239T	LBX1_HUMAN			Transcript		benign(0.025)	.	ENSP00000359212		CCDS31270.1			1	
ELMO2	0	LGGM	GRCh37	20	45016051	45016051	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	3	.	.	ENST00000290246.6:c.451C>A	p.Leu151Met	p.L151M	ENST00000290246	NM_133171.3	151	Ctg/Atg	0	1	1	UPI000013F6C4	0	NA	ENST00000290246		ENSG00000062598	17233		24	2.705		HGNC	p.L63M		ELMO2		SNV							ENST00000372176	protein_coding	getma.org/?cm=var&var=hg19,20,45016051,G,T&fts=all		hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF8,Gene3D:1.25.10.10,Pfam_domain:PF11841,Superfamily_domains:SSF48371		L/M		T	medium	646/3669		getma.org/?cm=msa&ty=f&p=ELMO2_HUMAN&rb=114&re=273&var=L151M	deleterious(0)	Q7Z5G9_HUMAN,Q5JVZ4_HUMAN,Q5BLP5_HUMAN,F5GZP8_HUMAN			YES	ELMO2,missense_variant,p.Leu63Met,ENST00000372176,;ELMO2,missense_variant,p.Leu151Met,ENST00000290246,NM_133171.3;ELMO2,missense_variant,p.Leu151Met,ENST00000396391,NM_182764.1;ELMO2,missense_variant,p.Leu151Met,ENST00000439931,;ELMO2,missense_variant,p.Leu149Met,ENST00000352077,;ELMO2,missense_variant,p.Leu151Met,ENST00000450812,;ELMO2,intron_variant,,ENST00000445496,;ELMO2,upstream_gene_variant,,ENST00000425546,;ELMO2,non_coding_transcript_exon_variant,,ENST00000469801,;ELMO2,non_coding_transcript_exon_variant,,ENST00000497412,;ELMO2,non_coding_transcript_exon_variant,,ENST00000460474,;ELMO2,intron_variant,,ENST00000488853,;ELMO2,upstream_gene_variant,,ENST00000462491,;ELMO2,downstream_gene_variant,,ENST00000487583,;ELMO2,upstream_gene_variant,,ENST00000480042,;ELMO2,downstream_gene_variant,,ENST00000462593,;							MODERATE	451/2163	L151M	ELMO2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000290246		CCDS13398.1			1	
WBP1	0	LGGM	GRCh37	2	74686107	74686107	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	34	3	.	.	ENST00000233615.2:c.69+309G>T		*23*	ENST00000233615	NM_012477.3			0	1	1	UPI0000138EBA	0		ENST00000233615		ENSG00000239779	12737		37			HGNC	p.A37S		WBP1		SNV							ENST00000428943	protein_coding							T		-/1294							YES	WBP1,missense_variant,p.Ala37Ser,ENST00000428943,;WBP1,intron_variant,,ENST00000393972,;WBP1,intron_variant,,ENST00000233615,NM_012477.3;WBP1,intron_variant,,ENST00000409737,;MOGS,downstream_gene_variant,,ENST00000233616,NM_006302.2;MOGS,downstream_gene_variant,,ENST00000409065,;MOGS,downstream_gene_variant,,ENST00000452063,NM_001146158.1;MOGS,downstream_gene_variant,,ENST00000448666,;INO80B,downstream_gene_variant,,ENST00000233331,NM_031288.3;MOGS,downstream_gene_variant,,ENST00000535045,;INO80B,downstream_gene_variant,,ENST00000409917,;INO80B,downstream_gene_variant,,ENST00000409493,;INO80B,downstream_gene_variant,,ENST00000431187,;MOGS,downstream_gene_variant,,ENST00000414701,;WBP1,intron_variant,,ENST00000494741,;WBP1,intron_variant,,ENST00000470536,;WBP1,intron_variant,,ENST00000466835,;WBP1,intron_variant,,ENST00000464774,;WBP1,intron_variant,,ENST00000474185,;INO80B,downstream_gene_variant,,ENST00000469849,;INO80B,downstream_gene_variant,,ENST00000494986,;MOGS,downstream_gene_variant,,ENST00000462443,;MOGS,downstream_gene_variant,,ENST00000489655,;WBP1,non_coding_transcript_exon_variant,,ENST00000484744,;WBP1,non_coding_transcript_exon_variant,,ENST00000466303,;WBP1,non_coding_transcript_exon_variant,,ENST00000492047,;INO80B,intron_variant,,ENST00000452361,;INO80B,intron_variant,,ENST00000441673,;WBP1,intron_variant,,ENST00000473467,;MOGS,downstream_gene_variant,,ENST00000462189,;WBP1,upstream_gene_variant,,ENST00000490120,;INO80B,downstream_gene_variant,,ENST00000471577,;INO80B,downstream_gene_variant,,ENST00000473618,;INO80B,downstream_gene_variant,,ENST00000455562,;							MODIFIER	-/810		WBP1_HUMAN			Transcript			.	ENSP00000233615		CCDS1943.1			1	
TBC1D28	0	LGGM	GRCh37	17	18544627	18544627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	16	3	.	.	ENST00000345096.4:c.39G>T	p.Gln13His	p.Q13H	ENST00000345096		13	caG/caT	0	1	1	UPI0000251DA5	0	NA	ENST00000345096		ENSG00000189375	26858		19	2.165		HGNC	p.Q13H		TBC1D28		SNV							ENST00000345096	protein_coding	getma.org/?cm=var&var=hg19,17,18544627,C,A&fts=all				Q/H		A	medium	739/2789		getma.org/?cm=msa&ty=f&p=TBC28_HUMAN&rb=1&re=103&var=Q13H	deleterious(0)	I3L4T3_HUMAN,I3L197_HUMAN			YES	TBC1D28,missense_variant,p.Gln13His,ENST00000345096,;TBC1D28,missense_variant,p.Gln13His,ENST00000405044,NM_001039397.2;TBC1D28,missense_variant,p.Gln13His,ENST00000575220,;TBC1D28,missense_variant,p.Gln13His,ENST00000572213,;TBC1D28,missense_variant,p.Gln13His,ENST00000573652,;TBC1D28,missense_variant,p.Gln13His,ENST00000575211,;TBC1D28,downstream_gene_variant,,ENST00000575570,;TBC1D28,downstream_gene_variant,,ENST00000579178,;TBC1D28,downstream_gene_variant,,ENST00000575970,;TBC1D28,intron_variant,,ENST00000570881,;RP11-815I9.3,upstream_gene_variant,,ENST00000571884,;							MODERATE	39/633	Q13H	TBC28_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000339973		CCDS42273.1			1	
PLXDC1	0	LGGM	GRCh37	17	37263683	37263683	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	47	3	.	.	ENST00000315392.4:c.688C>A	p.Arg230Ser	p.R230S	ENST00000315392	NM_020405.4	230	Cgc/Agc	0	1	1	UPI0000049814	0	NA	ENST00000315392		ENSG00000161381	20945		50	2.14		HGNC	p.R190S		PLXDC1		SNV							ENST00000444911	protein_coding	getma.org/?cm=var&var=hg19,17,37263683,G,T&fts=all		hmmpanther:PTHR13055:SF10,hmmpanther:PTHR13055		R/S		T	medium	900/6252		getma.org/?cm=msa&ty=f&p=PLDX1_HUMAN&rb=201&re=400&var=R230S	deleterious(0.03)	J3QR40_HUMAN,C9JWQ3_HUMAN,C9JCL2_HUMAN			YES	PLXDC1,missense_variant,p.Arg230Ser,ENST00000315392,NM_020405.4;PLXDC1,missense_variant,p.Arg157Ser,ENST00000539608,;PLXDC1,missense_variant,p.Arg190Ser,ENST00000444911,;PLXDC1,missense_variant,p.Arg230Ser,ENST00000394316,;PLXDC1,missense_variant,p.Arg157Ser,ENST00000441877,;PLXDC1,missense_variant,p.Arg20Ser,ENST00000579279,;PLXDC1,downstream_gene_variant,,ENST00000415163,;PLXDC1,downstream_gene_variant,,ENST00000579190,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000493200,;CTD-2206N4.4,non_coding_transcript_exon_variant,,ENST00000578423,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000577838,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000444435,;PLXDC1,downstream_gene_variant,,ENST00000580667,;PLXDC1,downstream_gene_variant,,ENST00000577941,;CTD-2206N4.4,upstream_gene_variant,,ENST00000577328,;PLXDC1,missense_variant,p.Arg230Ser,ENST00000578390,;PLXDC1,3_prime_UTR_variant,,ENST00000578808,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000461225,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000394318,;PLXDC1,non_coding_transcript_exon_variant,,ENST00000578517,;							MODERATE	688/1503	R230S	PLDX1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323927		CCDS11333.1			1	
FOXB2	0	LGGM	GRCh37	9	79635491	79635491	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	9	3	.	.	ENST00000376708.1:c.921C>A	p.Gly307=	p.G307=	ENST00000376708	NM_001013735.1	307	ggC/ggA	0	1	1	UPI00004588EE	0		ENST00000376708		ENSG00000204612	23315		12			HGNC	p.G307G		FOXB2		SNV							ENST00000376708	protein_coding			hmmpanther:PTHR11829:SF76,hmmpanther:PTHR11829		G		A		921/1299							YES	FOXB2,synonymous_variant,p.=,ENST00000376708,NM_001013735.1;							LOW	921/1299		FOXB2_HUMAN			Transcript			.	ENSP00000365898		CCDS35045.1			1	
C19orf57	0	LGGM	GRCh37	19	14000122	14000122	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	30	3	.	.	ENST00000346736.2:c.1547T>A	p.Leu516Gln	p.L516Q	ENST00000346736	NM_024323.3	516	cTg/cAg	0	1		UPI00015887A6	0	NA	ENST00000586783		ENSG00000132016	28153		33	0.55		HGNC	p.L516Q		C19orf57		SNV							ENST00000586783	protein_coding	getma.org/?cm=var&var=hg19,19,14000122,A,T&fts=all		hmmpanther:PTHR14583		L/Q		T	neutral	1547/2454		getma.org/?cm=msa&ty=f&p=CS057_HUMAN&rb=6&re=666&var=L516Q	tolerated(0.07)					C19orf57,missense_variant,p.Leu516Gln,ENST00000454313,;C19orf57,missense_variant,p.Leu516Gln,ENST00000346736,NM_024323.3;C19orf57,missense_variant,p.Leu516Gln,ENST00000586783,;C19orf57,missense_variant,p.Leu212Gln,ENST00000589393,;C19orf57,missense_variant,p.Leu43Gln,ENST00000591439,;C19orf57,intron_variant,,ENST00000591586,;C19orf57,upstream_gene_variant,,ENST00000588115,;C19orf57,downstream_gene_variant,,ENST00000585755,;							MODERATE	1547/2007	L516Q	CS057_HUMAN			Transcript		benign(0.093)	.	ENSP00000465822					1	
UNC13A	0	LGGM	GRCh37	19	17756849	17756849	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	36	3	.	.	ENST00000519716.2:c.2116G>T	p.Gly706Trp	p.G706W	ENST00000519716	NM_001080421.2	706	Ggg/Tgg	0	1	1	UPI00006C19A7	0	getma.org/pdb.php?prot=UN13A_HUMAN&from=678&to=769&var=G706W	ENST00000519716		ENSG00000130477	23150		39	3.14		HGNC	p.G706W		UNC13A		SNV			1				ENST00000552293	protein_coding	getma.org/?cm=var&var=hg19,19,17756849,C,A&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10480,SMART_domains:SM00239,Superfamily_domains:SSF49562		G/W		A	medium	2116/9838		getma.org/?cm=msa&ty=f&p=UN13A_HUMAN&rb=678&re=769&var=G706W	deleterious(0)				YES	UNC13A,missense_variant,p.Gly794Trp,ENST00000428389,;UNC13A,missense_variant,p.Gly706Trp,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Gly706Trp,ENST00000252773,;UNC13A,missense_variant,p.Gly706Trp,ENST00000551649,;UNC13A,missense_variant,p.Gly706Trp,ENST00000552293,;UNC13A,missense_variant,p.Gly704Trp,ENST00000550896,;							MODERATE	2116/5112	G706W	UN13A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000429562		CCDS46013.2			1	
PHC1	0	LGGM	GRCh37	12	9090623	9090623	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	31	3	.	.	ENST00000543824.1:c.2827G>C	p.Glu943Gln	p.E943Q	ENST00000543824		943	Gag/Cag	0	1	1	UPI000013CD12	0	getma.org/pdb.php?prot=PHC1_HUMAN&from=938&to=1002&var=E943Q	ENST00000543824		ENSG00000111752	3182		34	1.76		HGNC	p.E898Q		PHC1		SNV			1				ENST00000433083	protein_coding	getma.org/?cm=var&var=hg19,12,9090623,G,C&fts=all		Gene3D:1.10.150.50,Pfam_domain:PF00536,PROSITE_profiles:PS50105,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF21,SMART_domains:SM00454,Superfamily_domains:SSF47769		E/Q		C	low	3159/4292		getma.org/?cm=msa&ty=f&p=PHC1_HUMAN&rb=938&re=1002&var=E943Q	deleterious(0.03)	F5H6F5_HUMAN			YES	PHC1,missense_variant,p.Glu898Gln,ENST00000433083,;PHC1,missense_variant,p.Glu943Gln,ENST00000543824,;PHC1,missense_variant,p.Glu549Gln,ENST00000536844,;PHC1,missense_variant,p.Glu943Gln,ENST00000544916,NM_004426.2;PHC1,intron_variant,,ENST00000542346,;M6PR,downstream_gene_variant,,ENST00000000412,NM_002355.3;M6PR,downstream_gene_variant,,ENST00000539143,;M6PR,downstream_gene_variant,,ENST00000543704,;M6PR,downstream_gene_variant,,ENST00000537621,;PHC1,downstream_gene_variant,,ENST00000537610,;M6PR,downstream_gene_variant,,ENST00000544193,;PHC1,downstream_gene_variant,,ENST00000433847,;PHC1,downstream_gene_variant,,ENST00000539928,;PHC1,3_prime_UTR_variant,,ENST00000540574,;M6PR,downstream_gene_variant,,ENST00000541507,;PHC1,downstream_gene_variant,,ENST00000540809,;PHC1,downstream_gene_variant,,ENST00000535510,;M6PR,downstream_gene_variant,,ENST00000543258,;							MODERATE	2827/3015	E943Q	PHC1_HUMAN			Transcript		unknown(0)	.	ENSP00000440674		CCDS8597.1			1	
PYGM	0	LGGM	GRCh37	11	64521762	64521762	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	26	3	.	.	ENST00000164139.3:c.1055G>T	p.Arg352Met	p.R352M	ENST00000164139	NM_005609.2	352	aGg/aTg	0	1	1	UPI000013C5AC	0	getma.org/pdb.php?prot=PYGM_HUMAN&from=112&to=830&var=R352M	ENST00000164139		ENSG00000068976	9726		29	4.355		HGNC	p.R264M		PYGM		SNV			1				ENST00000377432	protein_coding	getma.org/?cm=var&var=hg19,11,64521762,C,A&fts=all		Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Superfamily_domains:SSF53756,TIGRFAM_domain:TIGR02093		R/M		A	high	1454/3198		getma.org/?cm=msa&ty=f&p=PYGM_HUMAN&rb=112&re=830&var=R352M	deleterious(0)				YES	PYGM,missense_variant,p.Arg352Met,ENST00000164139,NM_005609.2;PYGM,missense_variant,p.Arg264Met,ENST00000377432,NM_001164716.1;PYGM,non_coding_transcript_exon_variant,,ENST00000460413,;PYGM,upstream_gene_variant,,ENST00000462303,;							MODERATE	1055/2529	R352M	PYGM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000164139		CCDS8079.1			1	
IRAK2	0	LGGM	GRCh37	3	10255004	10255004	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	35	3	.	.	ENST00000256458.4:c.642C>A	p.Arg214=	p.R214=	ENST00000256458	NM_001570.3	214	cgC/cgA	0	1	1	UPI000020AB17	0		ENST00000256458		ENSG00000134070	6113		38			HGNC	p.R214R		IRAK2		SNV							ENST00000256458	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24419,hmmpanther:PTHR24419:SF2,Superfamily_domains:SSF56112		R		A		732/3483							YES	IRAK2,synonymous_variant,p.=,ENST00000256458,NM_001570.3;RNU6-814P,upstream_gene_variant,,ENST00000410416,;							LOW	642/1878		IRAK2_HUMAN			Transcript			.	ENSP00000256458		CCDS33697.1			1	
CAP1	0	LGGM	GRCh37	1	40525787	40525787	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	3	.	.	ENST00000372797.3:c.161C>A	p.Pro54His	p.P54H	ENST00000372797	NM_006367.3	54	cCt/cAt	0	1		UPI000013CDDF	0	getma.org/pdb.php?prot=CAP1_HUMAN&from=4&to=305&var=P54H	ENST00000372792		ENSG00000131236	20040		31	1.34		HGNC	p.P53H		CAP1		SNV							ENST00000372802	protein_coding	getma.org/?cm=var&var=hg19,1,40525787,C,A&fts=all		Superfamily_domains:0043456,Pfam_domain:PF01213,hmmpanther:PTHR10652:SF1,hmmpanther:PTHR10652		P/H		A	low	227/1496		getma.org/?cm=msa&ty=f&p=CAP1_HUMAN&rb=4&re=305&var=P54H	deleterious(0.02)	Q5T0R8_HUMAN,Q5T0R7_HUMAN,Q5T0R6_HUMAN,Q5T0R5_HUMAN,Q5T0R4_HUMAN,Q5T0R3_HUMAN,Q5T0R2_HUMAN,Q5T0R1_HUMAN				CAP1,missense_variant,p.Pro54His,ENST00000372797,NM_006367.3,NM_001105530.1;CAP1,missense_variant,p.Pro53His,ENST00000372802,;CAP1,missense_variant,p.Pro53His,ENST00000340450,;CAP1,missense_variant,p.Pro54His,ENST00000372805,;CAP1,missense_variant,p.Pro53His,ENST00000372798,;CAP1,missense_variant,p.Pro54His,ENST00000372792,;CAP1,missense_variant,p.Pro54His,ENST00000421589,;CAP1,missense_variant,p.Pro53His,ENST00000435719,;CAP1,missense_variant,p.Pro54His,ENST00000414281,;CAP1,missense_variant,p.Pro54His,ENST00000427843,;CAP1,missense_variant,p.Pro54His,ENST00000424977,;CAP1,missense_variant,p.Pro54His,ENST00000449311,;CAP1,missense_variant,p.Pro54His,ENST00000420216,;CAP1,missense_variant,p.Pro54His,ENST00000417287,;CAP1,missense_variant,p.Pro54His,ENST00000446031,;CAP1,intron_variant,,ENST00000414893,;							MODERATE	161/1428	P54H	CAP1_HUMAN			Transcript		benign(0.331)	.	ENSP00000361878		CCDS41309.1			1	
FKBP4	0	LGGM	GRCh37	12	2909669	2909669	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	26	3	.	.	ENST00000001008.4:c.958G>T	p.Ala320Ser	p.A320S	ENST00000001008	NM_002014.3	320	Gcc/Tcc	0	1	1	UPI000013C4D0	0	getma.org/pdb.php?prot=FKBP4_HUMAN&from=320&to=352&var=A320S	ENST00000001008		ENSG00000004478	3720		29	1.295		HGNC	p.A320S		FKBP4		SNV							ENST00000001008	protein_coding	getma.org/?cm=var&var=hg19,12,2909669,G,T&fts=all		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR10516:SF25,hmmpanther:PTHR10516,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		A/S		T	low	1145/2267		getma.org/?cm=msa&ty=f&p=FKBP4_HUMAN&rb=320&re=352&var=A320S	tolerated(0.08)	F5H1U3_HUMAN			YES	FKBP4,missense_variant,p.Ala320Ser,ENST00000001008,NM_002014.3;FKBP4,downstream_gene_variant,,ENST00000538622,;FKBP4,upstream_gene_variant,,ENST00000539181,;FKBP4,upstream_gene_variant,,ENST00000544366,;RP4-816N1.6,intron_variant,,ENST00000547834,;RP4-816N1.7,intron_variant,,ENST00000547042,;RP4-816N1.6,downstream_gene_variant,,ENST00000547794,;RP4-816N1.6,downstream_gene_variant,,ENST00000552469,;FKBP4,downstream_gene_variant,,ENST00000540260,;FKBP4,downstream_gene_variant,,ENST00000543037,;FKBP4,downstream_gene_variant,,ENST00000543769,;							MODERATE	958/1380	A320S	FKBP4_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000001008		CCDS8512.1			1	
TNKS1BP1	0	LGGM	GRCh37	11	57080070	57080070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	37	3	.	.	ENST00000532437.1:c.2092G>T	p.Gly698Cys	p.G698C	ENST00000532437		698	Ggt/Tgt	0	1		UPI000013DB72	0	NA	ENST00000358252		ENSG00000149115	19081		40	0.55		HGNC	p.G698C		TNKS1BP1		SNV							ENST00000532437	protein_coding	getma.org/?cm=var&var=hg19,11,57080070,C,A&fts=all		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2,Low_complexity_(Seg):seg		G/C		A	neutral	2245/5795		getma.org/?cm=msa&ty=f&p=TB182_HUMAN&rb=601&re=747&var=G698C	deleterious(0.02)	E9PKK0_HUMAN,E9PKE7_HUMAN				TNKS1BP1,missense_variant,p.Gly698Cys,ENST00000532437,;TNKS1BP1,missense_variant,p.Gly698Cys,ENST00000358252,NM_033396.2;TNKS1BP1,upstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;							MODERATE	2092/5190	G698C	TB182_HUMAN			Transcript		possibly_damaging(0.716)	.	ENSP00000350990		CCDS7951.1			1	
ZNF133	0	LGGM	GRCh37	20	18296985	18296985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	22	3	.	.	ENST00000377671.3:c.1487G>T	p.Gly496Val	p.G496V	ENST00000377671	NM_003434.4	496	gGg/gTg	0	1		UPI000013CBD0	0	getma.org/pdb.php?prot=ZN133_HUMAN&from=489&to=507&var=G497V	ENST00000316358		ENSG00000125846	12917		25	0.295		HGNC	p.G497V		ZNF133		SNV							ENST00000316358	protein_coding	getma.org/?cm=var&var=hg19,20,18296985,G,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF119,PROSITE_profiles:PS50157		G/V		T	neutral	1587/2242		getma.org/?cm=msa&ty=f&p=ZN133_HUMAN&rb=459&re=537&var=G497V	tolerated(0.26)	Q5JXW0_HUMAN,Q5JXV9_HUMAN,F5H289_HUMAN				ZNF133,missense_variant,p.Gly496Val,ENST00000377671,NM_003434.4,NM_001282995.1,NM_001083330.2;ZNF133,missense_variant,p.Gly497Val,ENST00000401790,NM_001282997.1;ZNF133,missense_variant,p.Gly500Val,ENST00000396026,NM_001283002.1;ZNF133,missense_variant,p.Gly434Val,ENST00000402618,NM_001283004.1,NM_001283003.1;ZNF133,missense_variant,p.Gly497Val,ENST00000316358,NM_001283008.1,NM_001282999.1,NM_001282998.1,NM_001283001.1,NM_001283000.1;ZNF133,missense_variant,p.Gly402Val,ENST00000535822,NM_001283007.1,NM_001283006.1;ZNF133,missense_variant,p.Gly402Val,ENST00000538547,NM_001283005.1;ZNF133,downstream_gene_variant,,ENST00000425686,;ZNF133,downstream_gene_variant,,ENST00000434018,;ZNF133,downstream_gene_variant,,ENST00000360010,;RP4-568F9.3,upstream_gene_variant,,ENST00000436848,;ZNF133,non_coding_transcript_exon_variant,,ENST00000462170,;							MODERATE	1490/1965	G497V	ZN133_HUMAN			Transcript		benign(0.003)	.	ENSP00000346090		CCDS63234.1			1	
ANKRD53	0	LGGM	GRCh37	2	71206871	71206871	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	23	3	.	.	ENST00000360589.3:c.498C>A	p.Pro166=	p.P166=	ENST00000360589	NM_001115116.1	166	ccC/ccA	0	1	1	UPI000013D952	0		ENST00000360589		ENSG00000144031	25691		26			HGNC	p.P132P		ANKRD53		SNV							ENST00000457410	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR24160,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		P		A		532/1666							YES	ANKRD53,synonymous_variant,p.=,ENST00000272421,NM_024933.3;ANKRD53,synonymous_variant,p.=,ENST00000441349,;ANKRD53,synonymous_variant,p.=,ENST00000457410,;ANKRD53,synonymous_variant,p.=,ENST00000360589,NM_001115116.1;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,non_coding_transcript_exon_variant,,ENST00000496088,;ANKRD53,intron_variant,,ENST00000483334,;AC007040.11,intron_variant,,ENST00000453130,;ANKRD53,upstream_gene_variant,,ENST00000460927,;							LOW	498/1593		ANR53_HUMAN			Transcript			.	ENSP00000353796		CCDS46321.1			1	
EMR2	0	LGGM	GRCh37	19	14875245	14875245	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	13	3	.	.	ENST00000315576.3:c.1084G>T	p.Glu362Ter	p.E362*	ENST00000315576	NM_013447.3	362	Gaa/Taa	0	1	1	UPI000016393A	0	NA	ENST00000315576		ENSG00000127507	3337		16	0		HGNC	p.E101X		EMR2		SNV							ENST00000392964	protein_coding	getma.org/?cm=var&var=hg19,19,14875245,C,A&fts=all		Prints_domain:PR01278,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF179		E/*		A	NA	1536/6767		NA					YES	EMR2,stop_gained,p.Glu362Ter,ENST00000315576,NM_013447.3;EMR2,stop_gained,p.Glu362Ter,ENST00000392967,;EMR2,stop_gained,p.Glu313Ter,ENST00000346057,;EMR2,stop_gained,p.Glu269Ter,ENST00000353876,;EMR2,stop_gained,p.Glu220Ter,ENST00000353005,;EMR2,stop_gained,p.Glu362Ter,ENST00000601345,;EMR2,stop_gained,p.Glu362Ter,ENST00000596991,;EMR2,stop_gained,p.Glu362Ter,ENST00000392965,NM_001271052.1;EMR2,stop_gained,p.Glu313Ter,ENST00000594294,;EMR2,stop_gained,p.Glu269Ter,ENST00000594076,;EMR2,stop_gained,p.Glu220Ter,ENST00000595839,;EMR2,stop_gained,p.Glu101Ter,ENST00000392964,;EMR2,downstream_gene_variant,,ENST00000599423,;EMR2,downstream_gene_variant,,ENST00000601619,;EMR2,stop_gained,p.Glu206Ter,ENST00000595208,;EMR2,stop_gained,p.Glu313Ter,ENST00000392962,;EMR2,splice_region_variant,,ENST00000360222,;							HIGH	1084/2472	E362*	EMR2_HUMAN			Transcript			.	ENSP00000319883		CCDS32935.1			1	
MARVELD2	0	LGGM	GRCh37	5	68715901	68715901	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	46	3	.	.	ENST00000325631.5:c.689C>A	p.Pro230Gln	p.P230Q	ENST00000325631	NM_001038603.2	230	cCg/cAg	0	1	1	UPI00001416EB	0	NA	ENST00000325631		ENSG00000152939	26401		49	2.24		HGNC	p.P230Q		MARVELD2		SNV			1				ENST00000512803	protein_coding	getma.org/?cm=var&var=hg19,5,68715901,C,A&fts=all		Pfam_domain:PF01284,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF3,PROSITE_profiles:PS51225,Transmembrane_helices:TMhelix		P/Q		A	medium	763/2153		getma.org/?cm=msa&ty=f&p=MALD2_HUMAN&rb=185&re=361&var=P230Q	deleterious(0.04)	D6RAH8_HUMAN,D6RA09_HUMAN			YES	MARVELD2,missense_variant,p.Pro230Gln,ENST00000454295,;MARVELD2,missense_variant,p.Pro230Gln,ENST00000325631,NM_001038603.2,NM_001244734.1;MARVELD2,missense_variant,p.Pro230Gln,ENST00000512803,;MARVELD2,missense_variant,p.Pro230Gln,ENST00000413223,;MARVELD2,missense_variant,p.Pro230Gln,ENST00000436532,;MARVELD2,downstream_gene_variant,,ENST00000515844,;							MODERATE	689/1677	P230Q	MALD2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000323264		CCDS34175.1			1	
SLC32A1	0	LGGM	GRCh37	20	37356280	37356280	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	23	3	.	.	ENST00000217420.1:c.576C>A	p.Ala192=	p.A192=	ENST00000217420	NM_080552.2	192	gcC/gcA	0	1	1	UPI0000043423	0		ENST00000217420		ENSG00000101438	11018		26			HGNC	p.A192A		SLC32A1		SNV							ENST00000217420	protein_coding			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221		A		A		839/2574							YES	SLC32A1,synonymous_variant,p.=,ENST00000217420,NM_080552.2;							LOW	576/1578		VIAAT_HUMAN			Transcript			.	ENSP00000217420		CCDS13307.1			1	
PEAK1	0	LGGM	GRCh37	15	77451029	77451029	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	19	3	.	.	ENST00000560626.2:c.3147C>A	p.Thr1049=	p.T1049=	ENST00000560626		1049	acC/acA	0	1		UPI00002378D0	0		ENST00000312493		ENSG00000173517	29431		22			HGNC	p.T1049T		PEAK1		SNV							ENST00000312493	protein_coding			hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5		T		T		3426/11547				H3BUZ5_HUMAN,H3BUE6_HUMAN				PEAK1,synonymous_variant,p.=,ENST00000560626,;PEAK1,synonymous_variant,p.=,ENST00000312493,NM_024776.3;PEAK1,non_coding_transcript_exon_variant,,ENST00000560854,;							LOW	3147/5241		PEAK1_HUMAN			Transcript			.	ENSP00000309230		CCDS42062.1			1	
GNMT	0	LGGM	GRCh37	6	42931408	42931408	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	34	3	.	.	ENST00000372808.3:c.852C>A	p.Pro284=	p.P284=	ENST00000372808	NM_018960.4	284	ccC/ccA	0	1	1	UPI000000161D	0		ENST00000372808		ENSG00000124713	4415		37			HGNC	p.P284P		GNMT		SNV			1				ENST00000372808	protein_coding			Superfamily_domains:SSF53335,PIRSF_domain:PIRSF000385,hmmpanther:PTHR16458,PROSITE_profiles:PS51600		P		A		862/1072							YES	GNMT,synonymous_variant,p.=,ENST00000372808,NM_018960.4;PEX6,downstream_gene_variant,,ENST00000304611,NM_000287.3;PEX6,downstream_gene_variant,,ENST00000244546,;							LOW	852/888		GNMT_HUMAN			Transcript			.	ENSP00000361894		CCDS4876.1			1	
ACLY	0	LGGM	GRCh37	17	40025821	40025821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	31	3	.	.	ENST00000352035.2:c.2957G>T	p.Arg986Leu	p.R986L	ENST00000352035	NM_001096.2	986	cGa/cTa	0	1	1	UPI000013CDF3	0	getma.org/pdb.php?prot=ACLY_HUMAN&from=880&to=1086&var=R986L	ENST00000352035		ENSG00000131473	115		34	3.67		HGNC	p.R715L		ACLY		SNV							ENST00000537919	protein_coding	getma.org/?cm=var&var=hg19,17,40025821,C,A&fts=all		Superfamily_domains:SSF48256,PIRSF_domain:PIRSF036511,Pfam_domain:PF00285,Gene3D:1.10.230.10,hmmpanther:PTHR23118		R/L		A	high	3088/4339		getma.org/?cm=msa&ty=f&p=ACLY_HUMAN&rb=880&re=1086&var=R986L	deleterious(0)	Q4LE36_HUMAN,K7ESG8_HUMAN,K7EIE7_HUMAN			YES	ACLY,missense_variant,p.Arg986Leu,ENST00000352035,NM_001096.2;ACLY,missense_variant,p.Arg976Leu,ENST00000353196,NM_198830.1;ACLY,missense_variant,p.Arg986Leu,ENST00000590151,;ACLY,missense_variant,p.Arg976Leu,ENST00000393896,;ACLY,missense_variant,p.Arg715Leu,ENST00000537919,;KLHL11,upstream_gene_variant,,ENST00000319121,NM_018143.1;ACLY,non_coding_transcript_exon_variant,,ENST00000588779,;							MODERATE	2957/3306	R986L	ACLY_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000253792		CCDS11412.1			1	
ZNF8	0	LGGM	GRCh37	19	58806434	58806434	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	45	3	.	.	ENST00000196548.5:c.1260G>T	p.Ala420=	p.A420=	ENST00000196548		420	gcG/gcT	0	1	1	UPI0000185FEA	0		ENST00000196548		ENSG00000083842	13154		48			Uniprot_gn	p.A420A		ZNF8		SNV							ENST00000196548	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF186,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		A		T		1391/2211				B4DSF4_HUMAN			YES	ZNF8,synonymous_variant,p.=,ENST00000196548,;ZNF8,synonymous_variant,p.=,ENST00000608843,NM_021089.2;AC010642.1,3_prime_UTR_variant,,ENST00000591325,;							LOW	1260/1728		ZNF8_HUMAN			Transcript			.	ENSP00000196548		CCDS12974.1			1	
CDKN1A	0	LGGM	GRCh37	6	36652189	36652189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	12	3	.	.	ENST00000244741.5:c.311G>T	p.Gly104Val	p.G104V	ENST00000244741	NM_000389.4	104	gGg/gTg	0	1		UPI0000048F7B	0	NA	ENST00000244741		ENSG00000124762	1784		15	1.495		HGNC	p.G104V		CDKN1A		SNV			1				ENST00000405375	protein_coding	getma.org/?cm=var&var=hg19,6,36652189,G,T&fts=all		hmmpanther:PTHR10265:SF16,hmmpanther:PTHR10265		G/V		T	low	457/2180		getma.org/?cm=msa&ty=f&p=CDN1A_HUMAN&rb=70&re=164&var=G104V	deleterious(0.03)					CDKN1A,missense_variant,p.Gly104Val,ENST00000405375,NM_001220778.1;CDKN1A,missense_variant,p.Gly104Val,ENST00000244741,NM_000389.4,NM_001220777.1,NM_078467.2;CDKN1A,missense_variant,p.Gly138Val,ENST00000448526,;CDKN1A,missense_variant,p.Gly104Val,ENST00000373711,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000462537,;							MODERATE	311/495	G104V	CDN1A_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000244741		CCDS4824.1			1	
CLN3	0	LGGM	GRCh37	16	28493652	28493652	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	3	.	.	ENST00000568224.1:c.724C>A	p.Arg242Ser	p.R242S	ENST00000568224	NM_001286109.1	242	Cgc/Agc	0	1		UPI00000000ED	0	NA	ENST00000360019		ENSG00000188603	2074		35	2.075		HGNC	p.R210S		CLN3		SNV			1				ENST00000357076	protein_coding	getma.org/?cm=var&var=hg19,16,28493652,G,T&fts=all		Pfam_domain:PF02487,PIRSF_domain:PIRSF015974,hmmpanther:PTHR10981,hmmpanther:PTHR10981:SF0,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		R/S		T	medium	1317/1913		getma.org/?cm=msa&ty=f&p=CLN3_HUMAN&rb=37&re=438&var=R320S	deleterious(0)	H3BPL0_HUMAN,B4DXV0_HUMAN,B4DFF3_HUMAN				CLN3,missense_variant,p.Arg320Ser,ENST00000569430,;CLN3,missense_variant,p.Arg320Ser,ENST00000360019,NM_001042432.1;CLN3,missense_variant,p.Arg320Ser,ENST00000359984,NM_000086.2;CLN3,missense_variant,p.Arg242Ser,ENST00000535392,;CLN3,missense_variant,p.Arg303Ser,ENST00000354630,;CLN3,missense_variant,p.Arg296Ser,ENST00000333496,NM_001286104.1;CLN3,missense_variant,p.Arg220Ser,ENST00000395653,NM_001286105.1;CLN3,missense_variant,p.Arg272Ser,ENST00000355477,;CLN3,missense_variant,p.Arg266Ser,ENST00000357857,NM_001286110.1;CLN3,missense_variant,p.Arg221Ser,ENST00000357806,;CLN3,missense_variant,p.Arg303Ser,ENST00000565316,;CLN3,missense_variant,p.Arg210Ser,ENST00000357076,;CLN3,missense_variant,p.Arg167Ser,ENST00000568558,;CLN3,intron_variant,,ENST00000567963,;CLN3,downstream_gene_variant,,ENST00000565688,;CLN3,downstream_gene_variant,,ENST00000561505,;CLN3,downstream_gene_variant,,ENST00000565778,;CLN3,non_coding_transcript_exon_variant,,ENST00000568472,;CLN3,downstream_gene_variant,,ENST00000565047,;CLN3,missense_variant,p.Arg242Ser,ENST00000568224,NM_001286109.1;CLN3,missense_variant,p.Arg210Ser,ENST00000569030,;CLN3,missense_variant,p.Arg17Ser,ENST00000564091,;CLN3,3_prime_UTR_variant,,ENST00000565140,;CLN3,3_prime_UTR_variant,,ENST00000568422,;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,,ENST00000564574,;CLN3,non_coding_transcript_exon_variant,,ENST00000565354,;CLN3,downstream_gene_variant,,ENST00000566083,;CLN3,downstream_gene_variant,,ENST00000566824,;CLN3,downstream_gene_variant,,ENST00000567495,;CLN3,downstream_gene_variant,,ENST00000568497,;							MODERATE	958/1317	R320S	CLN3_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000353116		CCDS10632.1			1	
DUSP18	0	LGGM	GRCh37	22	31059937	31059937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	3	.	.	ENST00000334679.3:c.54C>A	p.Ser18Arg	p.S18R	ENST00000334679	NM_152511.3	18	agC/agA	0	1	1	UPI0000037B0A	0	getma.org/pdb.php?prot=DUS18_HUMAN&from=1&to=26&var=S18R	ENST00000334679		ENSG00000167065	18484		31	0.97		HGNC	p.S18R		DUSP18		SNV							ENST00000377087	protein_coding	getma.org/?cm=var&var=hg19,22,31059937,G,T&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF327,Superfamily_domains:SSF52799		S/R		T	low	560/2479		getma.org/?cm=msa&ty=f&p=DUS18_HUMAN&rb=1&re=56&var=S18R	tolerated(0.36)	F8VX42_HUMAN			YES	DUSP18,missense_variant,p.Ser18Arg,ENST00000403268,;DUSP18,missense_variant,p.Ser18Arg,ENST00000334679,NM_152511.3;DUSP18,missense_variant,p.Ser18Arg,ENST00000407308,;DUSP18,missense_variant,p.Ser18Arg,ENST00000404885,;DUSP18,missense_variant,p.Ser18Arg,ENST00000342474,;SLC35E4,intron_variant,,ENST00000451479,;SLC35E4,downstream_gene_variant,,ENST00000406566,;DUSP18,downstream_gene_variant,,ENST00000442752,;DUSP18,intron_variant,,ENST00000461301,;DUSP18,missense_variant,p.Ser18Arg,ENST00000377087,;DUSP18,upstream_gene_variant,,ENST00000412865,;DUSP18,upstream_gene_variant,,ENST00000430175,;							MODERATE	54/567	S18R	DUS18_HUMAN			Transcript		benign(0.006)	.	ENSP00000333917		CCDS13883.1			1	
SLC43A2	0	LGGM	GRCh37	17	1520011	1520011	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	3	.	.	ENST00000301335.5:c.213G>T	p.Glu71Asp	p.E71D	ENST00000301335		71	gaG/gaT	0	1	1	UPI00000707A9	0	NA	ENST00000301335		ENSG00000167703	23087		23	0.55		HGNC	p.E71D		SLC43A2		SNV							ENST00000571650	protein_coding	getma.org/?cm=var&var=hg19,17,1520011,C,A&fts=all		hmmpanther:PTHR20766:SF2,hmmpanther:PTHR20766		E/D		A	neutral	302/8136		getma.org/?cm=msa&ty=f&p=LAT4_HUMAN&rb=56&re=392&var=E71D	tolerated(0.16)	Q8NBW0_HUMAN			YES	SLC43A2,missense_variant,p.Glu71Asp,ENST00000301335,;SLC43A2,missense_variant,p.Glu71Asp,ENST00000571650,NM_001284498.1;SLC43A2,missense_variant,p.Glu71Asp,ENST00000382147,NM_152346.1;snoU13,upstream_gene_variant,,ENST00000459614,;SLC43A2,missense_variant,p.Glu71Asp,ENST00000571376,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000572135,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000574743,;SLC43A2,non_coding_transcript_exon_variant,,ENST00000575944,;SLC43A2,intron_variant,,ENST00000572801,;							MODERATE	213/1710	E71D	LAT4_HUMAN			Transcript		benign(0.003)	.	ENSP00000301335		CCDS11006.1			1	
PNPLA7	0	LGGM	GRCh37	9	140361906	140361906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	22	3	.	.	ENST00000406427.1:c.2902G>T	p.Val968Phe	p.V968F	ENST00000406427	NM_001098537.1	968	Gtt/Ttt	0	1		UPI000022D7A4	0	NA	ENST00000277531		ENSG00000130653	24768	8.67E-05	25	3.215		HGNC	p.V943F	rs747546969	PNPLA7		SNV							ENST00000277531	protein_coding	getma.org/?cm=var&var=hg19,9,140361906,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF23,Gene3D:3.40.1090.10,Pfam_domain:PF01734,Superfamily_domains:SSF52151		V/F		A	medium	3014/4581		getma.org/?cm=msa&ty=f&p=PLPL7_HUMAN&rb=928&re=1094&var=V943F	deleterious(0)					PNPLA7,missense_variant,p.Val968Phe,ENST00000406427,NM_001098537.1;PNPLA7,missense_variant,p.Val943Phe,ENST00000277531,NM_152286.3;PNPLA7,missense_variant,p.Val934Phe,ENST00000434090,;PNPLA7,missense_variant,p.Val549Phe,ENST00000371457,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000492278,;PNPLA7,non_coding_transcript_exon_variant,,ENST00000469998,;PNPLA7,upstream_gene_variant,,ENST00000487228,;							MODERATE	2827/3954	V943F	PLPL7_HUMAN			Transcript		possibly_damaging(0.519)	.	ENSP00000277531	8.24E-06	CCDS7045.1			1	
MSH6	0	LGGM	GRCh37	2	48010486	48010486	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	15	3	.	.	ENST00000234420.5:c.114C>A	p.Pro38=	p.P38=	ENST00000234420	NM_000179.2	38	ccC/ccA	0	1	1	UPI00000405F8	0		ENST00000234420		ENSG00000116062	7329		18			HGNC	p.P38P		MSH6		SNV			1				ENST00000445503	protein_coding			Low_complexity_(Seg):seg,PIRSF_domain:PIRSF037677		P		A		266/7476				U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN			YES	MSH6,synonymous_variant,p.=,ENST00000234420,NM_000179.2;MSH6,synonymous_variant,p.=,ENST00000540021,NM_001281492.1,NM_001281493.1;MSH6,intron_variant,,ENST00000606499,;MSH6,upstream_gene_variant,,ENST00000538136,NM_001281494.1;MSH6,upstream_gene_variant,,ENST00000455383,;MSH6,upstream_gene_variant,,ENST00000411819,;MSH6,upstream_gene_variant,,ENST00000420813,;RNU6-688P,downstream_gene_variant,,ENST00000516063,;MSH6,non_coding_transcript_exon_variant,,ENST00000493177,;MSH6,synonymous_variant,p.=,ENST00000445503,;MSH6,synonymous_variant,p.=,ENST00000456246,;							LOW	114/4083		MSH6_HUMAN			Transcript			.	ENSP00000234420		CCDS1836.1			1	
TNNI1	0	LGGM	GRCh37	1	201384358	201384358	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	46	3	.	.	ENST00000361379.4:c.40C>A	p.Arg14Ser	p.R14S	ENST00000361379	NM_003281.3	14	Cgc/Agc	0	1		UPI0000000CCA	0	NA	ENST00000336092		ENSG00000159173	11945		49	3.185		HGNC	p.R14S		TNNI1		SNV							ENST00000555948	protein_coding	getma.org/?cm=var&var=hg19,1,201384358,G,T&fts=all		Gene3D:1.20.5.350,hmmpanther:PTHR13738,hmmpanther:PTHR13738:SF9,Superfamily_domains:SSF90250		R/S		T	medium	837/1750		getma.org/?cm=msa&ty=f&p=TNNI1_HUMAN&rb=1&re=44&var=R14S	deleterious(0)	G3V4F8_HUMAN,G3V489_HUMAN				TNNI1,missense_variant,p.Arg14Ser,ENST00000361379,NM_003281.3;TNNI1,missense_variant,p.Arg14Ser,ENST00000336092,;TNNI1,missense_variant,p.Arg14Ser,ENST00000367312,;TNNI1,missense_variant,p.Arg14Ser,ENST00000556362,;TNNI1,missense_variant,p.Arg14Ser,ENST00000555948,;TNNI1,5_prime_UTR_variant,,ENST00000555340,;							MODERATE	40/564	R14S	TNNI1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000337022		CCDS1411.1			1	
FUT1	0	LGGM	GRCh37	19	49253466	49253466	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	14	3	.	.	ENST00000310160.3:c.1073C>A	p.Pro358Gln	p.P358Q	ENST00000310160	NM_000148.3	358	cCa/cAa	0	1	1	UPI00000338F8	0	NA	ENST00000310160		ENSG00000174951	4012		17	0.9		HGNC	p.P358Q		FUT1		SNV			1				ENST00000310160	protein_coding	getma.org/?cm=var&var=hg19,19,49253466,G,T&fts=all		hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4		P/Q		T	low	2048/4246		getma.org/?cm=msa&ty=f&p=FUT1_HUMAN&rb=324&re=365&var=P358Q	deleterious(0.01)	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN			YES	FUT1,missense_variant,p.Pro358Gln,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,;							MODERATE	1073/1098	P358Q	FUT1_HUMAN			Transcript		benign(0.406)	.	ENSP00000312021		CCDS12733.1			1	
TSSK2	0	LGGM	GRCh37	22	19119041	19119041	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	44	3	.	.	ENST00000399635.2:c.129C>A	p.Ile43=	p.I43=	ENST00000399635	NM_053006.4	43	atC/atA	0	1	1	UPI000004FD58	0		ENST00000399635		ENSG00000206203	11401		47			HGNC	p.I43I		TSSK2		SNV							ENST00000399635	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF120,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		I		A		721/1814				A0ZT99_HUMAN			YES	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,;							LOW	129/1077		TSSK2_HUMAN			Transcript			.	ENSP00000382544		CCDS13755.1			1	
IGSF8	0	LGGM	GRCh37	1	160062722	160062722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	36	3	.	.	ENST00000368086.1:c.1304G>T	p.Arg435Leu	p.R435L	ENST00000368086		435	cGg/cTg	0	1		UPI0000073CBA	0	NA	ENST00000314485		ENSG00000162729	17813		39	1.245		HGNC	p.R435L		IGSF8		SNV							ENST00000368086	protein_coding	getma.org/?cm=var&var=hg19,1,160062722,C,A&fts=all		hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF22,SMART_domains:SM00409		R/L		A	low	1521/2343		getma.org/?cm=msa&ty=f&p=IGSF8_HUMAN&rb=431&re=560&var=R435L	deleterious(0.01)	C9J8Z4_HUMAN				IGSF8,missense_variant,p.Arg435Leu,ENST00000368086,;IGSF8,missense_variant,p.Arg435Leu,ENST00000314485,NM_052868.4,NM_001206665.2;KCNJ9,downstream_gene_variant,,ENST00000368088,NM_004983.2;IGSF8,downstream_gene_variant,,ENST00000448417,;IGSF8,downstream_gene_variant,,ENST00000460351,;							MODERATE	1304/1842	R435L	IGSF8_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000316664		CCDS1195.1			1	
MED14	0	LGGM	GRCh37	X	40513734	40513734	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	3	.	.	ENST00000324817.1:c.4173G>T	p.Met1391Ile	p.M1391I	ENST00000324817	NM_004229.3	1391	atG/atT	0	1	1	UPI00001414B1	0	NA	ENST00000324817		ENSG00000180182	2370		28	0.6		HGNC	p.M290I	COSM1729823	MED14		SNV						1	ENST00000433003	protein_coding	getma.org/?cm=var&var=hg19,X,40513734,C,A&fts=all		hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2		M/I		A	neutral	4292/7984		getma.org/?cm=msa&ty=f&p=MED14_HUMAN&rb=1241&re=1440&var=M1391I	tolerated(0.5)				YES	MED14,missense_variant,p.Met1391Ile,ENST00000324817,NM_004229.3;MED14,missense_variant,p.Met290Ile,ENST00000433003,;MED14,missense_variant,p.Met103Ile,ENST00000416199,;MED14,downstream_gene_variant,,ENST00000472736,;					1		MODERATE	4173/4365	M1391I	MED14_HUMAN			Transcript		benign(0.039)	.	ENSP00000323720		CCDS14254.1			1	
C14orf93	0	LGGM	GRCh37	14	23468203	23468203	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	3	.	.	ENST00000299088.6:c.30C>A	p.Ser10=	p.S10=	ENST00000299088	NM_001130708.1	10	tcC/tcA	0	1	1	UPI000000CC08	0		ENST00000299088		ENSG00000100802	20162		24			HGNC	p.S10S		C14orf93		SNV							ENST00000555098	protein_coding			hmmpanther:PTHR14375,Pfam_domain:PF15394		S		T		460/2361				J3KPV9_HUMAN,G5E9D9_HUMAN,G3V4W6_HUMAN,G3V4L9_HUMAN,G3V3W0_HUMAN,G3V396_HUMAN,G3V2U2_HUMAN,G3V2P0_HUMAN			YES	C14orf93,synonymous_variant,p.=,ENST00000299088,NM_001130708.1,NM_021944.2;C14orf93,synonymous_variant,p.=,ENST00000341470,NM_001282970.1;C14orf93,synonymous_variant,p.=,ENST00000397382,;C14orf93,synonymous_variant,p.=,ENST00000397379,NM_001130706.1;C14orf93,synonymous_variant,p.=,ENST00000406429,;C14orf93,synonymous_variant,p.=,ENST00000397380,;C14orf93,synonymous_variant,p.=,ENST00000553675,;C14orf93,synonymous_variant,p.=,ENST00000555098,;C14orf93,synonymous_variant,p.=,ENST00000553958,;C14orf93,synonymous_variant,p.=,ENST00000553931,;C14orf93,synonymous_variant,p.=,ENST00000555998,;C14orf93,synonymous_variant,p.=,ENST00000555575,;C14orf93,synonymous_variant,p.=,ENST00000556419,;C14orf93,intron_variant,,ENST00000397377,NM_001282969.1,NM_001282968.1;C14orf93,intron_variant,,ENST00000397376,;C14orf93,downstream_gene_variant,,ENST00000553606,;C14orf93,downstream_gene_variant,,ENST00000554179,;RP11-298I3.4,non_coding_transcript_exon_variant,,ENST00000556503,;RP11-298I3.4,downstream_gene_variant,,ENST00000557615,;RP11-298I3.4,downstream_gene_variant,,ENST00000555294,;C14orf93,intron_variant,,ENST00000554536,;C14orf93,intron_variant,,ENST00000556812,;C14orf93,downstream_gene_variant,,ENST00000557513,;C14orf93,downstream_gene_variant,,ENST00000553316,;C14orf93,downstream_gene_variant,,ENST00000556896,;							LOW	30/1617		CN093_HUMAN			Transcript			.	ENSP00000299088		CCDS9583.1			1	
XRN1	0	LGGM	GRCh37	3	142066185	142066185	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	4	.	.	ENST00000264951.4:c.3769-1G>T		p.X1257_splice	ENST00000264951	NM_019001.3			0	1	1	UPI0000074113	0		ENST00000264951		ENSG00000114127	30654		45			HGNC	-		XRN1		SNV							ENST00000264951	protein_coding							A		-/10143				C9JCZ8_HUMAN			YES	XRN1,splice_acceptor_variant,,ENST00000264951,NM_019001.3;XRN1,splice_acceptor_variant,,ENST00000498077,;XRN1,splice_acceptor_variant,,ENST00000392981,NM_001042604.1,NM_001282857.1;							HIGH	3769/5121		XRN1_HUMAN			Transcript			.	ENSP00000264951		CCDS3123.1			1	
BRD8	0	LGGM	GRCh37	5	137500011	137500011	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	67	4	.	.	ENST00000254900.5:c.1823C>A	p.Ser608Ter	p.S608*	ENST00000254900	NM_139199.1	608	tCa/tAa	0	1	1	UPI0000246C01	0	NA	ENST00000254900		ENSG00000112983	19874		71	0		HGNC	p.S606X		BRD8		SNV							ENST00000418329	protein_coding	getma.org/?cm=var&var=hg19,5,137500011,G,T&fts=all		hmmpanther:PTHR15398,hmmpanther:PTHR15398:SF1		S/*		T	NA	2195/4388		NA		F8WDX5_HUMAN,F8WBH2_HUMAN			YES	BRD8,stop_gained,p.Ser608Ter,ENST00000254900,NM_139199.1;BRD8,stop_gained,p.Ser681Ter,ENST00000230901,NM_006696.3;BRD8,stop_gained,p.Ser637Ter,ENST00000454473,;BRD8,stop_gained,p.Ser608Ter,ENST00000402931,;BRD8,stop_gained,p.Ser611Ter,ENST00000411594,NM_001164326.1;BRD8,stop_gained,p.Ser606Ter,ENST00000418329,;BRD8,stop_gained,p.Ser602Ter,ENST00000441656,;BRD8,stop_gained,p.Ser567Ter,ENST00000455658,;BRD8,stop_gained,p.Ser76Ter,ENST00000511898,;BRD8,downstream_gene_variant,,ENST00000453824,;BRD8,splice_region_variant,,ENST00000515014,;BRD8,stop_gained,p.Ser260Ter,ENST00000506167,;BRD8,splice_region_variant,,ENST00000512140,;BRD8,downstream_gene_variant,,ENST00000432618,;BRD8,downstream_gene_variant,,ENST00000463620,;BRD8,downstream_gene_variant,,ENST00000428808,;BRD8,upstream_gene_variant,,ENST00000472478,;BRD8,downstream_gene_variant,,ENST00000471892,;BRD8,upstream_gene_variant,,ENST00000489351,;BRD8,downstream_gene_variant,,ENST00000483805,;BRD8,upstream_gene_variant,,ENST00000460746,;							HIGH	1823/3708	S608*	BRD8_HUMAN			Transcript			.	ENSP00000254900		CCDS4198.1			1	
FAT4	0	LGGM	GRCh37	4	126412333	126412333	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	4	.	.	ENST00000394329.3:c.14356G>T	p.Gly4786Ter	p.G4786*	ENST00000394329	NM_024582.4	4786	Gga/Tga	0	1	1	UPI000155D6E3	0	NA	ENST00000394329		ENSG00000196159	23109		42	0		HGNC	p.G4786X		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126412333,G,T&fts=all		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41		G/*		T	NA	14369/16123		NA		B3KRB4_HUMAN			YES	FAT4,stop_gained,p.Gly4786Ter,ENST00000394329,NM_024582.4;FAT4,stop_gained,p.Gly3027Ter,ENST00000335110,;							HIGH	14356/14946	G4786*	FAT4_HUMAN			Transcript			.	ENSP00000377862		CCDS3732.3			1	
CPS1	0	LGGM	GRCh37	2	211469924	211469924	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	59	4	.	.	ENST00000430249.2:c.1953C>A	p.Val651=	p.V651=	ENST00000430249	NM_001122633.2	651	gtC/gtA	0	1		UPI000000D7EC	0		ENST00000233072		ENSG00000021826	2323		63			HGNC	p.V651V		CPS1		SNV			1				ENST00000430249	protein_coding			Gene3D:3.30.470.20,Pfam_domain:PF02786,PROSITE_profiles:PS50975,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369		V		A		2131/5821				Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN				CPS1,synonymous_variant,p.=,ENST00000233072,NM_001875.4;CPS1,synonymous_variant,p.=,ENST00000430249,NM_001122633.2;CPS1,synonymous_variant,p.=,ENST00000451903,NM_001122634.2;CPS1,non_coding_transcript_exon_variant,,ENST00000467353,;							LOW	1935/4503		CPSM_HUMAN			Transcript			.	ENSP00000233072		CCDS2393.1			1	
KIAA1429	0	LGGM	GRCh37	8	95531361	95531361	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	60	4	.	.	ENST00000297591.5:c.2365C>A	p.His789Asn	p.H789N	ENST00000297591	NM_015496.4	789	Cat/Aat	0	1	1	UPI00001BBB23	0	NA	ENST00000297591		ENSG00000164944	24500		64	0.345		HGNC	p.H789N		KIAA1429		SNV							ENST00000297591	protein_coding	getma.org/?cm=var&var=hg19,8,95531361,G,T&fts=all		hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185		H/N		T	neutral	2441/6528		getma.org/?cm=msa&ty=f&p=VIR_HUMAN&rb=690&re=889&var=H789N	tolerated(1)				YES	KIAA1429,missense_variant,p.His789Asn,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.His789Asn,ENST00000437199,;KIAA1429,missense_variant,p.His789Asn,ENST00000421249,NM_183009.2;KIAA1429,missense_variant,p.His142Asn,ENST00000522263,;							MODERATE	2365/5439	H789N	VIR_HUMAN			Transcript		benign(0.023)	.	ENSP00000297591		CCDS34923.1			1	
CD300LF	0	LGGM	GRCh37	17	72692351	72692351	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	67	4	.	.	ENST00000326165.6:c.565G>T	p.Gly189Trp	p.G189W	ENST00000326165	NM_139018.3	189	Ggg/Tgg	0	1	1	UPI000013E729	0	NA	ENST00000326165		ENSG00000186074	29883		71	1.975		HGNC	p.G192W		CD300LF		SNV							ENST00000464910	protein_coding	getma.org/?cm=var&var=hg19,17,72692351,C,A&fts=all		Pfam_domain:PF15330,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF43		G/W		A	medium	677/1764		getma.org/?cm=msa&ty=f&p=CLM1_HUMAN&rb=128&re=288&var=G189W	deleterious(0)				YES	CD300LF,missense_variant,p.Arg154Leu,ENST00000469092,;CD300LF,missense_variant,p.Arg204Leu,ENST00000301573,;CD300LF,missense_variant,p.Gly189Trp,ENST00000326165,NM_139018.3;CD300LF,missense_variant,p.Arg154Leu,ENST00000343125,;CD300LF,missense_variant,p.Gly204Trp,ENST00000583937,;CD300LF,missense_variant,p.Gly192Trp,ENST00000464910,;RAB37,intron_variant,,ENST00000340415,NM_175738.4;CD300LF,intron_variant,,ENST00000361254,;RAB37,intron_variant,,ENST00000402449,;CD300LF,intron_variant,,ENST00000581500,;RAB37,intron_variant,,ENST00000392617,;CD300LF,intron_variant,,ENST00000462044,;							MODERATE	565/873	G189W	CLM1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000327075		CCDS11704.1			1	
KIAA1522	0	LGGM	GRCh37	1	33235595	33235595	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	14	4	.	.	ENST00000401073.2:c.815G>T	p.Arg272Leu	p.R272L	ENST00000401073	NM_020888.2	272	cGg/cTg	0	1		UPI00001C1D6F	0	NA	ENST00000373480		ENSG00000162522	29301		18	1.5		HGNC	p.R272L		KIAA1522		SNV							ENST00000401073	protein_coding	getma.org/?cm=var&var=hg19,1,33235595,G,T&fts=all		hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF6		R/L		T	low	741/5294		getma.org/?cm=msa&ty=f&p=K1522_HUMAN&rb=201&re=341&var=R213L	deleterious(0)					KIAA1522,missense_variant,p.Arg272Leu,ENST00000401073,NM_020888.2;KIAA1522,missense_variant,p.Arg213Leu,ENST00000373480,NM_001198972.1;KIAA1522,missense_variant,p.Arg224Leu,ENST00000373481,;KIAA1522,intron_variant,,ENST00000294521,NM_001198973.1;KIAA1522,downstream_gene_variant,,ENST00000468130,;							MODERATE	638/3108	R213L	K1522_HUMAN			Transcript		unknown(0)	.	ENSP00000362579		CCDS55588.1			1	
CEP170	0	LGGM	GRCh37	1	243305760	243305760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	63	4	.	.	ENST00000366542.1:c.3917G>T	p.Ser1306Ile	p.S1306I	ENST00000366542	NM_014812.2	1306	aGc/aTc	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		67	1.795		HGNC	p.S1172I		CEP170		SNV							ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243305760,C,A&fts=all		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		S/I		A	low	3969/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=1248&re=1447&var=S1306I	deleterious(0)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Ser1306Ile,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Ser1208Ile,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Ser1172Ile,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Ser1270Ile,ENST00000336415,;CEP170,missense_variant,p.Ser32Ile,ENST00000481987,;CEP170,missense_variant,p.Ser32Ile,ENST00000490813,;CEP170,missense_variant,p.Ser115Ile,ENST00000413359,;CEP170,missense_variant,p.Ser32Ile,ENST00000464936,;CEP170,missense_variant,p.Ser32Ile,ENST00000492145,;RP11-261C10.5,downstream_gene_variant,,ENST00000439562,;CEP170,upstream_gene_variant,,ENST00000468254,;CEP170,upstream_gene_variant,,ENST00000468697,;							MODERATE	3917/4755	S1306I	CE170_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355500		CCDS44339.1			1	
DSTYK	0	LGGM	GRCh37	1	205131168	205131168	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	4	.	.	ENST00000367162.3:c.1814G>T	p.Arg605Leu	p.R605L	ENST00000367162	NM_015375.2	605	cGg/cTg	0	1	1	UPI00001D7D39	0	NA	ENST00000367162		ENSG00000133059	29043		37	1.7		HGNC	p.R605L		DSTYK		SNV			1				ENST00000367162	protein_coding	getma.org/?cm=var&var=hg19,1,205131168,C,A&fts=all		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF54		R/L		A	low	1845/7874		getma.org/?cm=msa&ty=f&p=DUSTY_HUMAN&rb=601&re=652&var=R605L	deleterious(0)				YES	DSTYK,missense_variant,p.Arg605Leu,ENST00000367162,NM_015375.2;DSTYK,missense_variant,p.Arg605Leu,ENST00000367161,NM_199462.2;DSTYK,intron_variant,,ENST00000367160,;							MODERATE	1814/2790	R605L	DUSTY_HUMAN			Transcript		benign(0.326)	.	ENSP00000356130		CCDS1451.1			1	
PDLIM4	0	LGGM	GRCh37	5	131607057	131607057	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	9	4	.	.	ENST00000253754.3:c.568G>A	p.Val190Met	p.V190M	ENST00000253754	NM_003687.3	190	Gtg/Atg	0	1	1	UPI00001338F6	0	NA	ENST00000253754		ENSG00000131435	16501		13	2.44		HGNC	p.V190M		PDLIM4		SNV							ENST00000379018	protein_coding	getma.org/?cm=var&var=hg19,5,131607057,G,A&fts=all		hmmpanther:PTHR24214,hmmpanther:PTHR24214:SF6		V/M		A	medium	632/2282		getma.org/?cm=msa&ty=f&p=PDLI4_HUMAN&rb=82&re=254&var=V190M	deleterious(0)	C9J542_HUMAN			YES	PDLIM4,missense_variant,p.Val190Met,ENST00000253754,NM_003687.3,NM_001131027.1;PDLIM4,missense_variant,p.Val190Met,ENST00000379018,;P4HA2,intron_variant,,ENST00000439698,;P4HA2,intron_variant,,ENST00000431054,;P4HA2,intron_variant,,ENST00000416053,;PDLIM4,downstream_gene_variant,,ENST00000418373,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000484620,;P4HA2,intron_variant,,ENST00000471826,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000474421,;PDLIM4,non_coding_transcript_exon_variant,,ENST00000462597,;PDLIM4,downstream_gene_variant,,ENST00000463615,;							MODERATE	568/993	V190M	PDLI4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000253754		CCDS4152.1			1	
SPATA13	0	LGGM	GRCh37	13	24798320	24798320	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	31	4	.	.	ENST00000382141.4:c.1253G>T	p.Trp418Leu	p.W418L	ENST00000382141		418	tGg/tTg	0	1		UPI000007013B	0		ENST00000382095		ENSG00000182957	23222		35			HGNC	p.W418L		SPATA13		SNV							ENST00000382108	protein_coding							T		-/6665								SPATA13,missense_variant,p.Trp418Leu,ENST00000424834,NM_001286792.1;SPATA13,missense_variant,p.Trp418Leu,ENST00000382108,NM_001166271.1,NM_001286793.1;SPATA13,intron_variant,,ENST00000382095,NM_153023.2;SPATA13,upstream_gene_variant,,ENST00000474317,;RP11-307N16.6,missense_variant,p.Trp418Leu,ENST00000382141,;SPATA13,non_coding_transcript_exon_variant,,ENST00000466831,;							MODIFIER	-/1959		SPT13_HUMAN			Transcript			.	ENSP00000371527		CCDS9305.1			1	
ATF7IP	0	LGGM	GRCh37	12	14577393	14577393	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	36	4	.	.	ENST00000261168.4:c.544G>T	p.Gly182Cys	p.G182C	ENST00000261168	NM_018179.3	182	Ggt/Tgt	0	1	1	UPI00001FB6B1	0	NA	ENST00000261168		ENSG00000171681	20092		40	1.1		HGNC	p.G182C		ATF7IP		SNV							ENST00000543189	protein_coding	getma.org/?cm=var&var=hg19,12,14577393,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23210:SF20,hmmpanther:PTHR23210		G/C		T	low	697/4656		getma.org/?cm=msa&ty=f&p=MCAF1_HUMAN&rb=1&re=1160&var=G182C	deleterious_low_confidence(0)	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			YES	ATF7IP,missense_variant,p.Gly190Cys,ENST00000544627,NM_181352.1;ATF7IP,missense_variant,p.Gly182Cys,ENST00000261168,NM_018179.3;ATF7IP,missense_variant,p.Gly182Cys,ENST00000536444,NM_001286514.1;ATF7IP,missense_variant,p.Gly182Cys,ENST00000543189,NM_001286515.1;ATF7IP,missense_variant,p.Gly182Cys,ENST00000540793,;ATF7IP,missense_variant,p.Gly182Cys,ENST00000396279,;ATF7IP,intron_variant,,ENST00000545723,;ATF7IP,intron_variant,,ENST00000538511,;ATF7IP,downstream_gene_variant,,ENST00000542508,;ATF7IP,downstream_gene_variant,,ENST00000542514,;ATF7IP,downstream_gene_variant,,ENST00000542991,;ATF7IP,downstream_gene_variant,,ENST00000539057,;ATF7IP,downstream_gene_variant,,ENST00000535132,;ATF7IP,downstream_gene_variant,,ENST00000536279,;ATF7IP,downstream_gene_variant,,ENST00000541056,;ATF7IP,downstream_gene_variant,,ENST00000545769,;ATF7IP,downstream_gene_variant,,ENST00000542967,;ATF7IP,downstream_gene_variant,,ENST00000428217,;ATF7IP,downstream_gene_variant,,ENST00000534828,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000541654,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000539659,;ATF7IP,non_coding_transcript_exon_variant,,ENST00000537653,;							MODERATE	544/3813	G182C	MCAF1_HUMAN			Transcript		benign(0.33)	.	ENSP00000261168		CCDS8663.1			1	
STK38L	0	LGGM	GRCh37	12	27462050	27462050	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	4	.	.	ENST00000389032.3:c.313C>A	p.Arg105=	p.R105=	ENST00000389032	NM_015000.3	105	Cgg/Agg	0	1	1	UPI0000035B4A	0		ENST00000389032		ENSG00000211455	17848		36			HGNC	p.R12R	rs774856321	STK38L		SNV							ENST00000539577	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24358,hmmpanther:PTHR24358:SF6,SMART_domains:SM00220,Superfamily_domains:SSF56112		R		A		482/5068	1.50E-05			F5H7Z3_HUMAN,F5GY51_HUMAN			YES	STK38L,synonymous_variant,p.=,ENST00000389032,NM_015000.3;STK38L,synonymous_variant,p.=,ENST00000539577,;STK38L,synonymous_variant,p.=,ENST00000545470,;STK38L,synonymous_variant,p.=,ENST00000543246,;STK38L,synonymous_variant,p.=,ENST00000541191,;STK38L,synonymous_variant,p.=,ENST00000544969,;STK38L,downstream_gene_variant,,ENST00000540996,;STK38L,synonymous_variant,p.=,ENST00000407753,;STK38L,3_prime_UTR_variant,,ENST00000544367,;STK38L,3_prime_UTR_variant,,ENST00000546286,;							LOW	313/1395		ST38L_HUMAN			Transcript			.	ENSP00000373684	8.24E-06	CCDS31761.1			1	
GPR21	0	LGGM	GRCh37	9	125797430	125797430	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	74	4	.	.	ENST00000373642.1:c.585C>A	p.Ile195=	p.I195=	ENST00000373642	NM_005294.2	195	atC/atA	0	1	1	UPI00000315CA	0		ENST00000373642		ENSG00000188394	4476		78			HGNC	p.I195I	COSM1104976	GPR21		SNV						1	ENST00000373642	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF252,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I		A		625/1170				H9NIL4_HUMAN			YES	GPR21,synonymous_variant,p.=,ENST00000373642,NM_005294.2;RABGAP1,intron_variant,,ENST00000373647,NM_012197.3;RABGAP1,intron_variant,,ENST00000373643,;RABGAP1,intron_variant,,ENST00000493854,;RABGAP1,intron_variant,,ENST00000475607,;RABGAP1,downstream_gene_variant,,ENST00000468760,;RABGAP1,intron_variant,,ENST00000456584,;					1		LOW	585/1050		GPR21_HUMAN			Transcript			.	ENSP00000362746		CCDS6849.1			1	
NUDT3	0	LGGM	GRCh37	6	34263459	34263459	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	40	4	.	.	ENST00000605528.1:c.571G>T	p.Gly191Ter	p.G191*	ENST00000605528	NM_001202470.2	191	Gga/Tga	0	1	1	UPI00000465B8	0	NA	ENST00000607016		ENSG00000272325	8050		44	0		HGNC	p.G72X		NUDT3		SNV							ENST00000358797	protein_coding	getma.org/?cm=var&var=hg19,6,34263459,C,A&fts=all		Superfamily_domains:SSF55811,Pfam_domain:PF00293,Gene3D:3.90.79.10,PROSITE_patterns:PS00893,hmmpanther:PTHR12629:SF5,hmmpanther:PTHR12629,PROSITE_profiles:PS51462		G/*		A	NA	526/9905		NA					YES	NUDT3,stop_gained,p.Gly72Ter,ENST00000607016,NM_006703.3;RPS10-NUDT3,stop_gained,p.Gly191Ter,ENST00000605528,NM_001202470.2;							HIGH	214/519	G72*	NUDT3_HUMAN			Transcript			.	ENSP00000476119		CCDS4791.1			1	
HSPG2	0	LGGM	GRCh37	1	22205536	22205536	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	42	4	.	.	ENST00000374695.3:c.2422G>A	p.Ala808Thr	p.A808T	ENST00000374695	NM_005529.5	808	Gcc/Acc	0	1	1	UPI0000212778	0	NA	ENST00000374695		ENSG00000142798	5273		46	1.865		HGNC	p.A808T		HSPG2		SNV			1				ENST00000374695	protein_coding	getma.org/?cm=var&var=hg19,1,22205536,C,T&fts=all		PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,PROSITE_patterns:PS01248,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00180,Superfamily_domains:SSF57196		A/T		T	low	2502/14327		getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=764&re=811&var=A808T		B6EU51_HUMAN			YES	HSPG2,missense_variant,p.Ala808Thr,ENST00000374695,NM_005529.5;HSPG2,upstream_gene_variant,,ENST00000427897,;HSPG2,upstream_gene_variant,,ENST00000498495,;HSPG2,non_coding_transcript_exon_variant,,ENST00000480900,;							MODERATE	2422/13176	A808T	PGBM_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000363827		CCDS30625.1			1	
LRIG1	0	LGGM	GRCh37	3	66432749	66432749	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	75	4	.	.	ENST00000273261.3:c.2565C>A	p.Thr855=	p.T855=	ENST00000273261	NM_015541.2	855	acC/acA	0	1	1	UPI000004C5BE	0		ENST00000273261		ENSG00000144749	17360		79			HGNC	p.T832T		LRIG1		SNV							ENST00000383703	protein_coding			hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367		T		T		3090/5273							YES	LRIG1,synonymous_variant,p.=,ENST00000383703,;LRIG1,synonymous_variant,p.=,ENST00000273261,NM_015541.2;SLC25A26,intron_variant,,ENST00000536651,;SLC25A26,downstream_gene_variant,,ENST00000354883,NM_173471.3_dupl9;SLC25A26,downstream_gene_variant,,ENST00000413054,;SLC25A26,downstream_gene_variant,,ENST00000336733,NM_001164796.1_dupl9;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,intron_variant,,ENST00000464350,;SLC25A26,downstream_gene_variant,,ENST00000483224,;							LOW	2565/3282		LRIG1_HUMAN			Transcript			.	ENSP00000273261		CCDS33783.1			1	
PRDM11	0	LGGM	GRCh37	11	45204487	45204487	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	4	.	.	ENST00000424263.2:c.299C>A	p.Pro100Gln	p.P100Q	ENST00000424263	NM_001256695.1	100	cCg/cAg	0	1		UPI000013D45B	0	getma.org/pdb.php?prot=PRD11_HUMAN&from=35&to=289&var=P134Q	ENST00000530656		ENSG00000019485	13996		36	1.87		HGNC	p.P134Q		PRDM11		SNV							ENST00000530656	protein_coding	getma.org/?cm=var&var=hg19,11,45204487,C,A&fts=all		hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF3		P/Q		A	low	401/1536		getma.org/?cm=msa&ty=f&p=PRD11_HUMAN&rb=35&re=289&var=P134Q	deleterious(0.03)	E9PJ09_HUMAN				PRDM11,missense_variant,p.Pro64Gln,ENST00000534751,;PRDM11,missense_variant,p.Pro134Gln,ENST00000263765,;PRDM11,missense_variant,p.Pro100Gln,ENST00000424263,NM_001256695.1,NM_001256696.1;PRDM11,missense_variant,p.Pro134Gln,ENST00000530656,;PRDM11,missense_variant,p.Pro100Gln,ENST00000526442,;PRDM11,non_coding_transcript_exon_variant,,ENST00000528980,;							MODERATE	401/1536	P134Q	PRD11_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000435976					1	
CLCN6	0	LGGM	GRCh37	1	11894552	11894552	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	42	4	.	.	ENST00000346436.6:c.1698G>T	p.Trp566Cys	p.W566C	ENST00000346436	NM_001286.3	566	tgG/tgT	0	1	1	UPI000013F2D3	0	getma.org/pdb.php?prot=CLCN6_HUMAN&from=138&to=570&var=W566C	ENST00000346436		ENSG00000011021	2024		46	3.44		HGNC	p.W566C		CLCN6		SNV							ENST00000376496	protein_coding	getma.org/?cm=var&var=hg19,1,11894552,G,T&fts=all		Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69		W/C		T	medium	1750/5583		getma.org/?cm=msa&ty=f&p=CLCN6_HUMAN&rb=138&re=570&var=W566C	deleterious(0.01)				YES	CLCN6,missense_variant,p.Trp566Cys,ENST00000346436,NM_001286.3;CLCN6,missense_variant,p.Trp544Cys,ENST00000376487,NM_001256959.1;CLCN6,missense_variant,p.Trp566Cys,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;CLCN6,downstream_gene_variant,,ENST00000494028,;							MODERATE	1698/2610	W566C	CLCN6_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000234488		CCDS138.1			1	
TSC2	0	LGGM	GRCh37	16	2131629	2131629	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	49	4	.	.	ENST00000219476.3:c.3644C>A	p.Pro1215Gln	p.P1215Q	ENST00000219476	NM_000548.3	1215	cCg/cAg	0	1	1	UPI000013C781	0	NA	ENST00000219476		ENSG00000103197	12363		53	1.935		HGNC	p.P1215Q		TSC2		SNV			1				ENST00000350773	protein_coding	getma.org/?cm=var&var=hg19,16,2131629,C,A&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1		P/Q		A	medium	4274/6156		getma.org/?cm=msa&ty=f&p=TSC2_HUMAN&rb=1105&re=1241&var=P1215Q	tolerated(0.08)				YES	TSC2,missense_variant,p.Pro1215Gln,ENST00000219476,NM_000548.3;TSC2,missense_variant,p.Pro1215Gln,ENST00000350773,NM_001114382.1;TSC2,missense_variant,p.Pro1172Gln,ENST00000353929,;TSC2,missense_variant,p.Pro1182Gln,ENST00000568454,;TSC2,missense_variant,p.Pro1171Gln,ENST00000401874,NM_001077183.1;TSC2,missense_variant,p.Pro1135Gln,ENST00000439673,;TSC2,missense_variant,p.Pro1123Gln,ENST00000382538,;TSC2,upstream_gene_variant,,ENST00000569110,;TSC2,downstream_gene_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,upstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000471143,;TSC2,downstream_gene_variant,,ENST00000483020,;TSC2,downstream_gene_variant,,ENST00000561695,;							MODERATE	3644/5424	P1215Q	TSC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219476		CCDS10458.1			1	
PLEKHG3	0	LGGM	GRCh37	14	65208331	65208331	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	59	4	.	.	ENST00000247226.7:c.1928G>T	p.Arg643Leu	p.R643L	ENST00000247226	NM_015549.1	643	cGg/cTg	0	1		UPI0000ECF248	0	NA	ENST00000394691		ENSG00000126822	20364		63	1.745		HGNC	p.R232L		PLEKHG3		SNV							ENST00000471182	protein_coding	getma.org/?cm=var&var=hg19,14,65208331,G,T&fts=all		hmmpanther:PTHR22143,hmmpanther:PTHR22143:SF4		R/L		T	low	2243/4396		getma.org/?cm=msa&ty=f&p=PKHG3_HUMAN&rb=561&re=1218&var=R699L	deleterious(0.03)	G3V3I3_HUMAN,G3V311_HUMAN,G3V278_HUMAN				PLEKHG3,missense_variant,p.Arg643Leu,ENST00000247226,NM_015549.1;PLEKHG3,missense_variant,p.Arg699Leu,ENST00000394691,;PLEKHG3,missense_variant,p.Arg232Leu,ENST00000471182,;PLEKHG3,missense_variant,p.Arg204Leu,ENST00000484731,;SPTB,downstream_gene_variant,,ENST00000389722,NM_001024858.2;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;							MODERATE	2096/3660	R699L	PKHG3_HUMAN			Transcript		benign(0.142)	.	ENSP00000378183					1	
LRP2	0	LGGM	GRCh37	2	170048520	170048520	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	61	4	.	.	ENST00000263816.3:c.8854G>T	p.Glu2952Ter	p.E2952*	ENST00000263816	NM_004525.2	2952	Gag/Tag	0	1	1	UPI0000141BA5	0	NA	ENST00000263816		ENSG00000081479	6694		65	0		HGNC	p.E2952X		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170048520,C,A&fts=all		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424		E/*		A	NA	9140/15808		NA		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,stop_gained,p.Glu2952Ter,ENST00000263816,NM_004525.2;							HIGH	8854/13968	E2952*	LRP2_HUMAN			Transcript			.	ENSP00000263816		CCDS2232.1			1	
TAX1BP1	0	LGGM	GRCh37	7	27839642	27839642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	4	.	.	ENST00000396319.2:c.1697G>T	p.Trp566Leu	p.W566L	ENST00000396319	NM_006024.6	566	tGg/tTg	0	1	1	UPI00000723AD	0	NA	ENST00000396319		ENSG00000106052	11575		42	1.405		HGNC	p.W566L		TAX1BP1		SNV							ENST00000543117	protein_coding	getma.org/?cm=var&var=hg19,7,27839642,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF4		W/L		T	low	1785/2890		getma.org/?cm=msa&ty=f&p=TAXB1_HUMAN&rb=481&re=680&var=W566L	tolerated(0.17)	C9JBZ7_HUMAN,C9J7J4_HUMAN,A4D196_HUMAN			YES	TAX1BP1,missense_variant,p.Trp566Leu,ENST00000396319,NM_006024.6;TAX1BP1,missense_variant,p.Trp566Leu,ENST00000543117,NM_001206901.1;TAX1BP1,missense_variant,p.Trp566Leu,ENST00000409980,;TAX1BP1,missense_variant,p.Trp566Leu,ENST00000265393,NM_001079864.2;TAX1BP1,missense_variant,p.Trp409Leu,ENST00000433216,NM_001206902.1;TAX1BP1,missense_variant,p.Trp121Leu,ENST00000457186,;TAX1BP1,3_prime_UTR_variant,,ENST00000416801,;							MODERATE	1697/2370	W566L	TAXB1_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000379612		CCDS5415.1			1	
RELN	0	LGGM	GRCh37	7	103301972	103301972	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	44	4	.	.	ENST00000428762.1:c.1292G>T	p.Trp431Leu	p.W431L	ENST00000428762	NM_005045.3	431	tGg/tTg	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=372&to=571&var=W431L	ENST00000428762		ENSG00000189056	9957		48	0.975		HGNC	p.W431L		RELN		SNV			1				ENST00000424685	protein_coding	getma.org/?cm=var&var=hg19,7,103301972,C,A&fts=all		hmmpanther:PTHR11841		W/L		A	low	1452/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=372&re=571&var=W431L	deleterious(0.02)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Trp431Leu,ENST00000424685,;RELN,missense_variant,p.Trp431Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Trp431Leu,ENST00000343529,NM_173054.2;							MODERATE	1292/10383	W431L	RELN_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000392423		CCDS47680.1			1	
ST6GALNAC1	0	LGGM	GRCh37	17	74625748	74625748	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	47	4	.	.	ENST00000156626.7:c.177G>T	p.Leu59=	p.L59=	ENST00000156626	NM_018414.3	59	ctG/ctT	0	1	1	UPI0000001C00	0		ENST00000156626		ENSG00000070526	23614		51			HGNC	p.L59L		ST6GALNAC1		SNV							ENST00000359088	protein_coding			hmmpanther:PTHR13713:SF1,hmmpanther:PTHR13713		L		A		377/2570							YES	ST6GALNAC1,synonymous_variant,p.=,ENST00000156626,NM_018414.3;ST6GALNAC1,upstream_gene_variant,,ENST00000590784,;ST6GALNAC1,non_coding_transcript_exon_variant,,ENST00000590878,;ST6GALNAC1,upstream_gene_variant,,ENST00000589004,;ST6GALNAC1,downstream_gene_variant,,ENST00000590915,;ST6GALNAC1,synonymous_variant,p.=,ENST00000359088,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000592042,;ST6GALNAC1,3_prime_UTR_variant,,ENST00000589813,;ST6GALNAC1,upstream_gene_variant,,ENST00000585633,;ST6GALNAC1,upstream_gene_variant,,ENST00000588375,;							LOW	177/1803		SIA7A_HUMAN			Transcript			.	ENSP00000156626		CCDS11748.1			1	
MCM7	0	LGGM	GRCh37	7	99690639	99690639	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	42	4	.	.	ENST00000303887.5:c.2076C>A	p.Ala692=	p.A692=	ENST00000303887	NM_001278595.1	692	gcC/gcA	0	1	1	UPI000012ED9E	0		ENST00000303887		ENSG00000166508	6950		46			HGNC	p.A516A		MCM7		SNV							ENST00000354230	protein_coding			hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF26		A		T		2722/2957				Q9H4N9_HUMAN,C9J8M6_HUMAN			YES	MCM7,synonymous_variant,p.=,ENST00000303887,NM_001278595.1,NM_005916.4;MCM7,synonymous_variant,p.=,ENST00000354230,NM_182776.2;MCM7,synonymous_variant,p.=,ENST00000343023,;COPS6,downstream_gene_variant,,ENST00000303904,NM_006833.4;COPS6,downstream_gene_variant,,ENST00000418625,;COPS6,downstream_gene_variant,,ENST00000419210,;MIR25,downstream_gene_variant,,ENST00000384816,;MIR106B,downstream_gene_variant,,ENST00000385301,;MIR93,downstream_gene_variant,,ENST00000385024,;MCM7,non_coding_transcript_exon_variant,,ENST00000485286,;MCM7,non_coding_transcript_exon_variant,,ENST00000489841,;COPS6,downstream_gene_variant,,ENST00000465027,;MCM7,downstream_gene_variant,,ENST00000477372,;COPS6,downstream_gene_variant,,ENST00000472107,;COPS6,downstream_gene_variant,,ENST00000474823,;COPS6,downstream_gene_variant,,ENST00000468499,;COPS6,downstream_gene_variant,,ENST00000483891,;COPS6,downstream_gene_variant,,ENST00000426712,;MCM7,downstream_gene_variant,,ENST00000491245,;COPS6,downstream_gene_variant,,ENST00000496358,;MCM7,downstream_gene_variant,,ENST00000493352,;							LOW	2076/2160		MCM7_HUMAN			Transcript			.	ENSP00000307288		CCDS5683.1			1	
PAX5	0	LGGM	GRCh37	9	37006526	37006526	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	4	.	.	ENST00000358127.4:c.419G>T	p.Arg140Leu	p.R140L	ENST00000358127	NM_001280556.1	140	cGg/cTg	0	1	1	UPI000013136C	0	getma.org/pdb.php?prot=PAX5_HUMAN&from=16&to=140&var=R140L	ENST00000358127		ENSG00000196092	8619		45	3.515		HGNC	p.R140L		PAX5		SNV			1				ENST00000520281	protein_coding	getma.org/?cm=var&var=hg19,9,37006526,C,A&fts=all		PROSITE_profiles:PS51057,hmmpanther:PTHR24329:SF259,hmmpanther:PTHR24329,Pfam_domain:PF00292,Gene3D:1.10.10.10,SMART_domains:SM00351,Superfamily_domains:SSF46689		R/L		A	high	494/8536		getma.org/?cm=msa&ty=f&p=PAX5_HUMAN&rb=16&re=140&var=R140L	deleterious(0)	E7ERK2_HUMAN,C0KTE1_HUMAN			YES	PAX5,missense_variant,p.Arg140Leu,ENST00000358127,NM_001280556.1,NM_001280547.1,NM_001280548.1,NM_001280554.1,NM_016734.2;PAX5,missense_variant,p.Arg140Leu,ENST00000377853,;PAX5,missense_variant,p.Arg140Leu,ENST00000377852,;PAX5,missense_variant,p.Arg140Leu,ENST00000523241,NM_001280549.1;PAX5,missense_variant,p.Arg140Leu,ENST00000520154,NM_001280550.1;PAX5,missense_variant,p.Arg140Leu,ENST00000414447,;PAX5,missense_variant,p.Arg32Leu,ENST00000522003,;PAX5,missense_variant,p.Arg140Leu,ENST00000377847,NM_001280552.1;PAX5,missense_variant,p.Arg140Leu,ENST00000520281,NM_001280553.1;PAX5,missense_variant,p.Arg74Leu,ENST00000446742,NM_001280555.1;PAX5,missense_variant,p.Arg32Leu,ENST00000523145,NM_001280551.1;PAX5,upstream_gene_variant,,ENST00000524340,;PAX5,upstream_gene_variant,,ENST00000522932,;RP11-297B17.3,intron_variant,,ENST00000509911,;PAX5,missense_variant,p.Arg140Leu,ENST00000377840,;PAX5,missense_variant,p.Arg140Leu,ENST00000523493,;							MODERATE	419/1176	R140L	PAX5_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000350844		CCDS6607.1			1	
NAV2	0	LGGM	GRCh37	11	20067049	20067049	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	44	4	.	.	ENST00000396087.3:c.3804G>T	p.Leu1268=	p.L1268=	ENST00000396087	NM_001244963.1	1268	ctG/ctT	0	1	1	UPI00001E0580	0		ENST00000396087		ENSG00000166833	15997		48			HGNC	p.L331L		NAV2		SNV							ENST00000525322	protein_coding			hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		L		T		3903/7882							YES	NAV2,synonymous_variant,p.=,ENST00000396085,NM_182964.5;NAV2,synonymous_variant,p.=,ENST00000349880,NM_145117.4;NAV2,synonymous_variant,p.=,ENST00000360655,NM_001111018.1;NAV2,synonymous_variant,p.=,ENST00000540292,;NAV2,synonymous_variant,p.=,ENST00000527559,;NAV2,synonymous_variant,p.=,ENST00000396087,NM_001244963.1;NAV2,synonymous_variant,p.=,ENST00000311043,;NAV2,synonymous_variant,p.=,ENST00000533917,NM_001111019.2;NAV2,synonymous_variant,p.=,ENST00000525322,;NAV2,downstream_gene_variant,,ENST00000530408,;NAV2-AS2,intron_variant,,ENST00000533767,;NAV2,downstream_gene_variant,,ENST00000534299,;NAV2,downstream_gene_variant,,ENST00000526675,;							LOW	3804/7467		NAV2_HUMAN			Transcript			.	ENSP00000379396		CCDS58126.1			1	
LDLR	0	LGGM	GRCh37	19	11227664	11227664	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	72	4	.	.	ENST00000558518.1:c.1835C>T	p.Ala612Val	p.A612V	ENST00000558518	NM_001195798.1	612	gCc/gTc	0	1	1	UPI00000015DF	0	getma.org/pdb.php?prot=LDLR_HUMAN&from=573&to=615&var=A612V	ENST00000558518		ENSG00000130164	6547		76	2.445		HGNC	p.A612V	rs377449975	LDLR		SNV	T:0		1				ENST00000557933	protein_coding	getma.org/?cm=var&var=hg19,19,11227664,C,T&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195,Pfam_domain:PF00058,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825		A/V	T:0.0001	T	medium	2022/3617		getma.org/?cm=msa&ty=f&p=LDLR_HUMAN&rb=573&re=615&var=A612V	deleterious(0.05)	Q6LCH2_HUMAN,E1B4S5_HUMAN			YES	LDLR,missense_variant,p.Ala697Val,ENST00000252444,;LDLR,missense_variant,p.Ala612Val,ENST00000558518,NM_001195798.1,NM_000527.4;LDLR,missense_variant,p.Ala612Val,ENST00000558013,;LDLR,missense_variant,p.Ala612Val,ENST00000557933,;LDLR,missense_variant,p.Ala571Val,ENST00000535915,NM_001195799.1;LDLR,missense_variant,p.Ala485Val,ENST00000545707,NM_001195803.1;LDLR,missense_variant,p.Ala444Val,ENST00000455727,NM_001195800.1;LDLR,downstream_gene_variant,,ENST00000560467,;LDLR,intron_variant,,ENST00000559340,;LDLR,downstream_gene_variant,,ENST00000560173,;							MODERATE	1835/2583	A612V	LDLR_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000454071		CCDS12254.1			1	
SUPT16H	0	LGGM	GRCh37	14	21830975	21830975	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	90	4	.	.	ENST00000216297.2:c.1643C>A	p.Pro548Gln	p.P548Q	ENST00000216297	NM_007192.3	548	cCg/cAg	0	1	1	UPI0000035D5C	0	NA	ENST00000216297		ENSG00000092201	11465		94	3.58		HGNC	p.P548Q		SUPT16H		SNV							ENST00000216297	protein_coding	getma.org/?cm=var&var=hg19,14,21830975,G,T&fts=all		hmmpanther:PTHR13980:SF15,hmmpanther:PTHR13980,Pfam_domain:PF08644		P/Q		T	high	1982/4684		getma.org/?cm=msa&ty=f&p=SP16H_HUMAN&rb=529&re=689&var=P548Q	deleterious(0)				YES	SUPT16H,missense_variant,p.Pro548Gln,ENST00000216297,NM_007192.3;SUPT16H,upstream_gene_variant,,ENST00000557394,;							MODERATE	1643/3144	P548Q	SP16H_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216297		CCDS9569.1			1	
ME1	0	LGGM	GRCh37	6	83937182	83937182	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	84	4	.	.	ENST00000369705.3:c.1147G>T	p.Gly383Cys	p.G383C	ENST00000369705	NM_002395.4	383	Ggt/Tgt	0	1	1	UPI000000127E	0	getma.org/pdb.php?prot=MAOX_HUMAN&from=270&to=522&var=G383C	ENST00000369705		ENSG00000065833	6983		88	3.64		HGNC	p.G383C		ME1		SNV							ENST00000369705	protein_coding	getma.org/?cm=var&var=hg19,6,83937182,C,A&fts=all		hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Pfam_domain:PF03949,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000106,SMART_domains:SM00919,Superfamily_domains:SSF51735		G/C		A	high	1264/3371		getma.org/?cm=msa&ty=f&p=MAOX_HUMAN&rb=270&re=522&var=G383C	deleterious(0)	F5H4W0_HUMAN,B4DZ70_HUMAN			YES	ME1,missense_variant,p.Gly383Cys,ENST00000369705,NM_002395.4;ME1,missense_variant,p.Gly308Cys,ENST00000543031,;ME1,missense_variant,p.Gly217Cys,ENST00000541327,;							MODERATE	1147/1719	G383C	MAOX_HUMAN			Transcript		benign(0.411)	.	ENSP00000358719		CCDS34492.1			1	
CUZD1	0	LGGM	GRCh37	10	124600817	124600817	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	34	4	.	.	ENST00000368904.1:c.110G>T	p.Gly37Val	p.G37V	ENST00000368904		37	gGg/gTg	0	1	1	UPI000004C655	0	NA	ENST00000368904		ENSG00000138161	17937		38	1.39		HGNC	p.G37V		CUZD1		SNV							ENST00000392790	protein_coding	getma.org/?cm=var&var=hg19,10,124600817,C,A&fts=all		SMART_domains:SM00042,PROSITE_profiles:PS01180		G/V		A	low	1060/2903		getma.org/?cm=msa&ty=f&p=CUZD1_HUMAN&rb=25&re=146&var=G37V	tolerated(0.06)				YES	CUZD1,missense_variant,p.Gly37Val,ENST00000368904,;CUZD1,missense_variant,p.Gly37Val,ENST00000545804,;CUZD1,missense_variant,p.Gly37Val,ENST00000392790,NM_022034.5;CUZD1,intron_variant,,ENST00000368901,;CUZD1,intron_variant,,ENST00000368900,;CUZD1,intron_variant,,ENST00000338948,;CUZD1,upstream_gene_variant,,ENST00000368899,;							MODERATE	110/1824	G37V	CUZD1_HUMAN			Transcript		possibly_damaging(0.454)	.	ENSP00000357900		CCDS7631.1			1	
LRP1	0	LGGM	GRCh37	12	57560728	57560728	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	4	.	.	ENST00000243077.3:c.2813C>A	p.Pro938His	p.P938H	ENST00000243077	NM_002332.2	938	cCc/cAc	0	1	1	UPI00001B044F	0	getma.org/pdb.php?prot=LRP1_HUMAN&from=934&to=971&var=P938H	ENST00000243077		ENSG00000123384	6692	0.000173	24	2.805		HGNC	p.P938H	rs574238888	LRP1	6.19E-05	SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57560728,C,A&fts=all	T:0	Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00192,Superfamily_domains:SSF57424		P/H		A	medium	3279/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=934&re=971&var=P938H		Q6LBN5_HUMAN,Q6LAF4_HUMAN	T:0	T:0	YES	LRP1,missense_variant,p.Pro938His,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000553446,;LRP1,downstream_gene_variant,,ENST00000556830,;		T:0.0002					MODERATE	2813/13635	P938H	LRP1_HUMAN		T:0	Transcript		probably_damaging(0.93)	.	ENSP00000243077	2.47E-05	CCDS8932.1		T:0.001	1	
GRIN2A	0	LGGM	GRCh37	16	10032280	10032280	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	57	4	.	.	ENST00000330684.3:c.543G>T	p.Arg181Ser	p.R181S	ENST00000330684	NM_001134407.1	181	agG/agT	0	1		UPI000000D7AB	0	getma.org/pdb.php?prot=NMDE1_HUMAN&from=64&to=311&var=R181S	ENST00000330684		ENSG00000183454	4585		61	1.905		HGNC	p.R181S		GRIN2A		SNV			1				ENST00000562109	protein_coding	getma.org/?cm=var&var=hg19,16,10032280,C,A&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,Superfamily_domains:SSF53822		R/S		A	medium	1091/5031		getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=64&re=311&var=R181S	deleterious(0.04)	Q547U9_HUMAN				GRIN2A,missense_variant,p.Arg181Ser,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Arg181Ser,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Arg181Ser,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Arg181Ser,ENST00000562109,;GRIN2A,missense_variant,p.Arg181Ser,ENST00000396575,;GRIN2A,missense_variant,p.Arg24Ser,ENST00000535259,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566670,;GRIN2A,non_coding_transcript_exon_variant,,ENST00000568247,;GRIN2A,intron_variant,,ENST00000566683,;							MODERATE	543/4395	R181S	NMDE1_HUMAN			Transcript		benign(0.438)	.	ENSP00000332549		CCDS10539.1			1	
C1orf173	0	LGGM	GRCh37	1	75086436	75086436	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	75	4	.	.	ENST00000326665.5:c.982G>T	p.Gly328Cys	p.G328C	ENST00000326665	NM_001002912.4	328	Ggc/Tgc	0	1	1	UPI0000237200	0	NA	ENST00000326665		ENSG00000178965	25346		79	2.32		HGNC	p.G328C		C1orf173		SNV							ENST00000326665	protein_coding	getma.org/?cm=var&var=hg19,1,75086436,C,A&fts=all		Pfam_domain:PF15257,hmmpanther:PTHR23034		G/C		A	medium	1201/7159		getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=201&re=400&var=G328C	deleterious(0)				YES	C1orf173,missense_variant,p.Gly328Cys,ENST00000326665,NM_001002912.4;C1orf173,missense_variant,p.Gly131Cys,ENST00000420661,;RP4-612J11.1,intron_variant,,ENST00000416017,;C1orf173,3_prime_UTR_variant,,ENST00000479666,;							MODERATE	982/4593	G328C	CA173_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322609		CCDS30755.1			1	
CDCA2	0	LGGM	GRCh37	8	25325799	25325799	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	36	4	.	.	ENST00000330560.3:c.605G>T	p.Arg202Leu	p.R202L	ENST00000330560	NM_152562.2	202	cGg/cTg	0	1	1	UPI000013DF9A	0	NA	ENST00000330560		ENSG00000184661	14623		40	2.125		HGNC	p.R187L	rs751483583	CDCA2		SNV							ENST00000380665	protein_coding	getma.org/?cm=var&var=hg19,8,25325799,G,T&fts=all		hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603		R/L		T	medium	1082/3731		getma.org/?cm=msa&ty=f&p=CDCA2_HUMAN&rb=1&re=385&var=R202L	deleterious(0.01)				YES	CDCA2,missense_variant,p.Arg202Leu,ENST00000330560,NM_152562.2;CDCA2,missense_variant,p.Arg187Leu,ENST00000380665,;CDCA2,non_coding_transcript_exon_variant,,ENST00000523454,;							MODERATE	605/3072	R202L	CDCA2_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000328228		CCDS6049.1			1	
C9orf84	0	LGGM	GRCh37	9	114476798	114476798	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	76	4	.	.	ENST00000374287.3:c.2150C>A	p.Pro717His	p.P717H	ENST00000374287		717	cCt/cAt	0	1		UPI0000458916	0	NA	ENST00000318737		ENSG00000165181	26535		80	0.975		HGNC	p.P678H		C9orf84		SNV							ENST00000394779	protein_coding	getma.org/?cm=var&var=hg19,9,114476798,G,T&fts=all				P/H		T	low	2279/4661		getma.org/?cm=msa&ty=f&p=CI084_HUMAN&rb=85&re=968&var=P717H	tolerated(0.61)					C9orf84,missense_variant,p.Pro678His,ENST00000394779,NM_001080551.1;C9orf84,missense_variant,p.Pro643His,ENST00000394777,;C9orf84,missense_variant,p.Pro717His,ENST00000374287,;C9orf84,missense_variant,p.Pro717His,ENST00000318737,NM_173521.3;							MODERATE	2150/4335	P717H	CI084_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000322108		CCDS6781.3			1	
PPA1	0	LGGM	GRCh37	10	71974297	71974297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	42	4	.	.	ENST00000373232.3:c.343G>T	p.Gly115Cys	p.G115C	ENST00000373232	NM_021129.3	115	Ggt/Tgt	0	1	1	UPI000012D838	0	getma.org/pdb.php?prot=IPYR_HUMAN&from=45&to=229&var=G115C	ENST00000373232		ENSG00000180817	9226		46	4.36		HGNC	p.G115C		PPA1		SNV							ENST00000373232	protein_coding	getma.org/?cm=var&var=hg19,10,71974297,C,A&fts=all		Gene3D:3.90.80.10,Pfam_domain:PF00719,hmmpanther:PTHR10286,hmmpanther:PTHR10286:SF7,Superfamily_domains:SSF50324		G/C		A	high	443/1295		getma.org/?cm=msa&ty=f&p=IPYR_HUMAN&rb=45&re=229&var=G115C	deleterious(0)				YES	PPA1,missense_variant,p.Gly115Cys,ENST00000373232,NM_021129.3;PPA1,missense_variant,p.Gly115Cys,ENST00000608321,;PPA1,downstream_gene_variant,,ENST00000495346,;PPA1,missense_variant,p.Gly115Cys,ENST00000373230,;PPA1,upstream_gene_variant,,ENST00000610026,;PPA1,downstream_gene_variant,,ENST00000460755,;							MODERATE	343/870	G115C	IPYR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362329		CCDS7299.1			1	
DNAH6	0	LGGM	GRCh37	2	84972302	84972302	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	49	4	.	.	ENST00000389394.3:c.10441C>A	p.Gln3481Lys	p.Q3481K	ENST00000389394	NM_001370.1	3481	Caa/Aaa	0	1		UPI000163AC9D	0	getma.org/pdb.php?prot=DYH6_HUMAN&from=3402&to=4155&var=Q3481K	ENST00000237449		ENSG00000115423	2951		53	-0.83		HGNC	p.Q3481K		DNAH6		SNV							ENST00000389394	protein_coding	getma.org/?cm=var&var=hg19,2,84972302,C,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF03028		Q/K		A	neutral	10449/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=3402&re=4155&var=Q3481K	tolerated(0.95)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Gln3481Lys,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Gln3481Lys,ENST00000237449,;							MODERATE	10441/12477	Q3481K	DYH6_HUMAN			Transcript		benign(0.003)	.	ENSP00000237449		CCDS46348.1			1	
ZNF48	0	LGGM	GRCh37	16	30409607	30409607	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	15	4	.	.	ENST00000320159.2:c.1036C>A	p.Arg346=	p.R346=	ENST00000320159	NM_152652.2	346	Cga/Aga	0	1	1	UPI000013E982	0		ENST00000320159		ENSG00000180035	13114		19			HGNC	p.R346R		ZNF48		SNV							ENST00000320159	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF18,PROSITE_profiles:PS50157		R		A		1412/3234				E9PQ92_HUMAN,E9PJ50_HUMAN			YES	ZNF48,synonymous_variant,p.=,ENST00000320159,NM_152652.2,NM_001214907.1,NM_001214909.1,NM_001214906.1;ZNF48,downstream_gene_variant,,ENST00000524644,;ZNF48,downstream_gene_variant,,ENST00000528032,;ZNF48,downstream_gene_variant,,ENST00000495929,;SEPT1,upstream_gene_variant,,ENST00000570039,;SEPT1,upstream_gene_variant,,ENST00000567783,;							LOW	1036/1857		ZNF48_HUMAN			Transcript			.	ENSP00000324056		CCDS10679.1			1	
PIK3R3	0	LGGM	GRCh37	1	46521483	46521483	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	77	4	.	.	ENST00000262741.5:c.925C>A	p.Arg309=	p.R309=	ENST00000262741	NM_003629.3	309	Cga/Aga	0	1	1	UPI000013D318	0		ENST00000262741		ENSG00000117461	8981		81			HGNC	p.R309R		PIK3R3		SNV							ENST00000262741	protein_coding			Prints_domain:PR00678,hmmpanther:PTHR10155		R		T		1615/5609				Q9UMI3_HUMAN,Q5T4P3_HUMAN			YES	PIK3R3,synonymous_variant,p.=,ENST00000262741,NM_003629.3;PIK3R3,synonymous_variant,p.=,ENST00000420542,NM_001114172.1;PIK3R3,synonymous_variant,p.=,ENST00000372006,;PIK3R3,synonymous_variant,p.=,ENST00000540385,;PIK3R3,intron_variant,,ENST00000354242,;PIK3R3,intron_variant,,ENST00000340332,;PIK3R3,intron_variant,,ENST00000423209,;PIK3R3,non_coding_transcript_exon_variant,,ENST00000488808,;							LOW	925/1386		P55G_HUMAN			Transcript			.	ENSP00000262741		CCDS529.1			1	
RAE1	0	LGGM	GRCh37	20	55942108	55942108	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	4	.	.	ENST00000395841.2:c.507C>A	p.Leu169=	p.L169=	ENST00000395841	NM_003610.3	169	ctC/ctA	0	1		UPI0000133017	0		ENST00000371242		ENSG00000101146	9828		45			HGNC	p.L169L		RAE1		SNV							ENST00000395841	protein_coding			hmmpanther:PTHR10971,hmmpanther:PTHR10971:SF11,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		L		A		650/2362				B0QZ37_HUMAN,B0QZ36_HUMAN				RAE1,synonymous_variant,p.=,ENST00000395841,NM_003610.3;RAE1,synonymous_variant,p.=,ENST00000395840,NM_001015885.1;RAE1,synonymous_variant,p.=,ENST00000371242,;RAE1,synonymous_variant,p.=,ENST00000527947,;RAE1,downstream_gene_variant,,ENST00000411894,;RAE1,downstream_gene_variant,,ENST00000429339,;RAE1,synonymous_variant,p.=,ENST00000492498,;RAE1,upstream_gene_variant,,ENST00000462438,;							LOW	507/1107		RAE1L_HUMAN			Transcript			.	ENSP00000360286		CCDS13458.1			1	
CNTN1	0	LGGM	GRCh37	12	41333261	41333261	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	44	4	.	.	ENST00000551295.2:c.1353G>T	p.Gly451=	p.G451=	ENST00000551295	NM_001843.3	451	ggG/ggT	0	1		UPI0000127EBA	0		ENST00000347616		ENSG00000018236	2171		48			HGNC	p.G451G		CNTN1		SNV			1				ENST00000347616	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		G		T		1432/3393				F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN				CNTN1,synonymous_variant,p.=,ENST00000551295,NM_001843.3;CNTN1,synonymous_variant,p.=,ENST00000347616,;CNTN1,synonymous_variant,p.=,ENST00000348761,NM_175038.2;CNTN1,synonymous_variant,p.=,ENST00000547849,NM_001256064.1;CNTN1,synonymous_variant,p.=,ENST00000547702,NM_001256063.1;CNTN1,synonymous_variant,p.=,ENST00000360099,;							LOW	1353/3057		CNTN1_HUMAN			Transcript			.	ENSP00000325660		CCDS8737.1			1	
PRDM2	0	LGGM	GRCh37	1	14057534	14057534	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	60	4	.	.	ENST00000235372.7:c.49G>T	p.Glu17Ter	p.E17*	ENST00000235372	NM_012231.4	17	Gag/Tag	0	1	1	UPI000013C9CD	0	NA	ENST00000235372		ENSG00000116731	9347		64	0		HGNC	p.E17X		PRDM2		SNV							ENST00000235372	protein_coding	getma.org/?cm=var&var=hg19,1,14057534,G,T&fts=all		PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4		E/*		T	NA	905/7957		NA		S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,stop_gained,p.Glu17Ter,ENST00000235372,NM_012231.4;PRDM2,stop_gained,p.Glu17Ter,ENST00000311066,NM_015866.4;PRDM2,stop_gained,p.Glu17Ter,ENST00000376048,NM_001135610.1;PRDM2,stop_gained,p.Glu17Ter,ENST00000484063,;PRDM2,stop_gained,p.Glu8Ter,ENST00000491134,;							HIGH	49/5157	E17*	PRDM2_HUMAN			Transcript			.	ENSP00000235372		CCDS150.1			1	
NIPBL	0	LGGM	GRCh37	5	36958269	36958269	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	80	4	.	.	ENST00000282516.8:c.294C>A	p.Ala98=	p.A98=	ENST00000282516	NM_133433.3	98	gcC/gcA	0	1	1	UPI00003761B5	0		ENST00000282516		ENSG00000164190	28862		84			HGNC	p.A98A		NIPBL		SNV			1				ENST00000282516	protein_coding			hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18		A		A		793/10435				A2RRA7_HUMAN			YES	NIPBL,synonymous_variant,p.=,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,synonymous_variant,p.=,ENST00000448238,;NIPBL,non_coding_transcript_exon_variant,,ENST00000505998,;NIPBL,upstream_gene_variant,,ENST00000504430,;							LOW	294/8415		NIPBL_HUMAN			Transcript			.	ENSP00000282516		CCDS3920.1			1	
ZBED4	0	LGGM	GRCh37	22	50279073	50279073	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	60	4	.	.	ENST00000216268.5:c.1763G>T	p.Arg588Leu	p.R588L	ENST00000216268	NM_014838.2	588	cGg/cTg	0	1	1	UPI000013C6DB	0	NA	ENST00000216268		ENSG00000100426	20721		64	1.65		HGNC	p.R588L		ZBED4		SNV							ENST00000216268	protein_coding	getma.org/?cm=var&var=hg19,22,50279073,G,T&fts=all		PROSITE_profiles:PS50808,hmmpanther:PTHR23272,hmmpanther:PTHR23272:SF6,Pfam_domain:PF02892,SMART_domains:SM00614,Superfamily_domains:SSF57667		R/L		T	low	2240/6893		getma.org/?cm=msa&ty=f&p=ZBED4_HUMAN&rb=561&re=609&var=R588L	deleterious(0)				YES	ZBED4,missense_variant,p.Arg588Leu,ENST00000216268,NM_014838.2;							MODERATE	1763/3516	R588L	ZBED4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216268		CCDS33677.1			1	
GRID2	0	LGGM	GRCh37	4	94006385	94006385	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	39	4	.	.	ENST00000282020.4:c.484G>T	p.Glu162Ter	p.E162*	ENST00000282020	NM_001510.2	162	Gag/Tag	0	1	1	UPI00001AEA78	0	NA	ENST00000282020		ENSG00000152208	4576		43	0		HGNC	p.E77X		GRID2		SNV			1				ENST00000502699	protein_coding	getma.org/?cm=var&var=hg19,4,94006385,G,T&fts=all		hmmpanther:PTHR18966:SF109,hmmpanther:PTHR18966,Pfam_domain:PF01094,Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		E/*		T	NA	742/5340		NA		Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN			YES	GRID2,stop_gained,p.Glu162Ter,ENST00000282020,NM_001510.2;GRID2,intron_variant,,ENST00000510992,NM_001286838.1;GRID2,non_coding_transcript_exon_variant,,ENST00000505687,;GRID2,non_coding_transcript_exon_variant,,ENST00000515744,;GRID2,stop_gained,p.Glu77Ter,ENST00000502699,;							HIGH	484/3024	E162*	GRID2_HUMAN			Transcript			.	ENSP00000282020		CCDS3637.1			1	
PAPOLB	0	LGGM	GRCh37	7	4901279	4901279	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	4	.	.	ENST00000404991.1:c.160G>T	p.Glu54Ter	p.E54*	ENST00000404991	NM_020144.4	54	Gag/Tag	0	1	1	UPI0000131304	0	NA	ENST00000404991		ENSG00000218823	15970		32	0		HGNC	p.E54X	COSM1651466,COSM1651465	PAPOLB		SNV						1,1	ENST00000404991	protein_coding	getma.org/?cm=var&var=hg19,7,4901279,C,A&fts=all		Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF81301		E/*		A	NA	347/4262		NA		A4D1Z6_HUMAN			YES	PAPOLB,stop_gained,p.Glu54Ter,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,;					1,1		HIGH	160/1911	E54*	PAPOB_HUMAN			Transcript			.	ENSP00000384700					1	
SERINC3	0	LGGM	GRCh37	20	43139946	43139946	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	35	4	.	.	ENST00000342374.4:c.459G>T	p.Gly153=	p.G153=	ENST00000342374	NM_006811.2	153	ggG/ggT	0	1		UPI0000136B4D	0		ENST00000255175		ENSG00000132824	11699		39			HGNC	p.G153G		SERINC3		SNV							ENST00000342374	protein_coding			Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF13,Transmembrane_helices:TMhelix		G		A		593/1726				Q5H936_HUMAN,B4DUE9_HUMAN				SERINC3,synonymous_variant,p.=,ENST00000342374,NM_006811.2;SERINC3,synonymous_variant,p.=,ENST00000255175,NM_198941.1;SERINC3,synonymous_variant,p.=,ENST00000541235,;SERINC3,downstream_gene_variant,,ENST00000468234,;							LOW	459/1422		SERC3_HUMAN			Transcript			.	ENSP00000255175		CCDS13333.1			1	
CYP4F12	0	LGGM	GRCh37	19	15791240	15791240	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	34	4	.	.	ENST00000550308.1:c.436C>A	p.Arg146Ser	p.R146S	ENST00000550308	NM_023944.3	146	Cgc/Agc	0	1	1	UPI000013D3F9	0	getma.org/pdb.php?prot=CP4FC_HUMAN&from=52&to=515&var=R146S	ENST00000550308		ENSG00000186204	18857		38	0.935		HGNC	p.R146S		CYP4F12		SNV							ENST00000550308	protein_coding	getma.org/?cm=var&var=hg19,19,15791240,C,A&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF72,Superfamily_domains:SSF48264		R/S		A	low	816/2044		getma.org/?cm=msa&ty=f&p=CP4FC_HUMAN&rb=52&re=515&var=R146S	tolerated(0.06)				YES	CYP4F12,missense_variant,p.Arg146Ser,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Arg146Ser,ENST00000324632,;CYP4F12,downstream_gene_variant,,ENST00000551607,;CYP4F12,3_prime_UTR_variant,,ENST00000517734,;CYP4F12,3_prime_UTR_variant,,ENST00000548237,;CYP4F12,3_prime_UTR_variant,,ENST00000547332,;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,;							MODERATE	436/1575	R146S	CP4FC_HUMAN			Transcript		benign(0.387)	.	ENSP00000448998		CCDS42517.1			1	
CASKIN1	0	LGGM	GRCh37	16	2240144	2240144	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	16	4	.	.	ENST00000343516.6:c.174G>C	p.Leu58=	p.L58=	ENST00000343516	NM_020764.3	58	ctG/ctC	0	1	1	UPI0000073A3B	0		ENST00000343516		ENSG00000167971	20879		20			HGNC	p.L58L		CASKIN1		SNV							ENST00000343516	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24177:SF12,hmmpanther:PTHR24177,Gene3D:1.25.40.20,Pfam_domain:PF13857,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		G		267/5756				D3DU87_HUMAN			YES	CASKIN1,synonymous_variant,p.=,ENST00000343516,NM_020764.3;CASKIN1,upstream_gene_variant,,ENST00000562055,;							LOW	174/4296		CSKI1_HUMAN			Transcript			.	ENSP00000345436		CCDS42103.1			1	
IPO13	0	LGGM	GRCh37	1	44426654	44426654	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	51	4	.	.	ENST00000372343.3:c.2216C>A	p.Pro739His	p.P739H	ENST00000372343	NM_014652.3	739	cCc/cAc	0	1	1	UPI0000073F11	0	getma.org/pdb.php?prot=IPO13_HUMAN&from=664&to=863&var=P739H	ENST00000372343		ENSG00000117408	16853		55	2.045		HGNC	p.P739H		IPO13		SNV							ENST00000372343	protein_coding	getma.org/?cm=var&var=hg19,1,44426654,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF29,Superfamily_domains:SSF48371		P/H		A	medium	2878/3894		getma.org/?cm=msa&ty=f&p=IPO13_HUMAN&rb=664&re=863&var=P739H	deleterious(0)				YES	IPO13,missense_variant,p.Pro739His,ENST00000372343,NM_014652.3;IPO13,upstream_gene_variant,,ENST00000372339,;IPO13,downstream_gene_variant,,ENST00000492152,;IPO13,downstream_gene_variant,,ENST00000489773,;IPO13,downstream_gene_variant,,ENST00000480902,;							MODERATE	2216/2892	P739H	IPO13_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000361418		CCDS503.1			1	
NABP1	0	LGGM	GRCh37	2	192547313	192547313	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	35	4	.	.	ENST00000425611.2:c.302+570G>T		*101*	ENST00000425611	NM_001031716.2			0	1	1	UPI000006F339	0		ENST00000425611		ENSG00000173559	26232		39			HGNC	p.G53V		NABP1		SNV			1				ENST00000307834	protein_coding							T		-/1878							YES	NABP1,intron_variant,,ENST00000410026,NM_001254736.1;NABP1,intron_variant,,ENST00000425611,NM_001031716.2;NABP1,intron_variant,,ENST00000435931,;NABP1,intron_variant,,ENST00000409510,;NABP1,missense_variant,p.Gly133Val,ENST00000307849,;NABP1,missense_variant,p.Gly133Val,ENST00000451500,;NABP1,missense_variant,p.Gly53Val,ENST00000307834,;NABP1,non_coding_transcript_exon_variant,,ENST00000462712,;NABP1,downstream_gene_variant,,ENST00000491331,;NABP1,upstream_gene_variant,,ENST00000462824,;							MODIFIER	-/615		SOSB2_HUMAN			Transcript			.	ENSP00000403683		CCDS33352.1			1	
USP10	0	LGGM	GRCh37	16	84779155	84779155	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	4	.	.	ENST00000219473.7:c.1068G>T	p.Pro356=	p.P356=	ENST00000219473	NM_005153.2	356	ccG/ccT	0	1	1	UPI00001379EB	0		ENST00000219473		ENSG00000103194	12608		37			HGNC	p.P360P		USP10		SNV							ENST00000570191	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF69		P		T		1181/3009				Q6P2I0_HUMAN			YES	USP10,synonymous_variant,p.=,ENST00000219473,NM_005153.2;USP10,synonymous_variant,p.=,ENST00000570191,NM_001272075.1;USP10,intron_variant,,ENST00000569038,;USP10,intron_variant,,ENST00000563892,;USP10,intron_variant,,ENST00000570053,;USP10,downstream_gene_variant,,ENST00000562283,;USP10,downstream_gene_variant,,ENST00000562743,;USP10,3_prime_UTR_variant,,ENST00000540269,;USP10,intron_variant,,ENST00000563048,;USP10,downstream_gene_variant,,ENST00000563386,;USP10,downstream_gene_variant,,ENST00000566512,;USP10,downstream_gene_variant,,ENST00000563023,;							LOW	1068/2397		UBP10_HUMAN			Transcript			.	ENSP00000219473		CCDS45537.1			1	
NOC2L	0	LGGM	GRCh37	1	892609	892609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	4	.	.	ENST00000327044.6:c.224G>T	p.Arg75Leu	p.R75L	ENST00000327044	NM_015658.3	75	cGg/cTg	0	1	1	UPI000041820C	0	NA	ENST00000327044		ENSG00000188976	24517		42	2.32		HGNC	p.R75L		NOC2L		SNV							ENST00000327044	protein_coding	getma.org/?cm=var&var=hg19,1,892609,C,A&fts=all		hmmpanther:PTHR12687:SF4,hmmpanther:PTHR12687		R/L		A	medium	274/2790		getma.org/?cm=msa&ty=f&p=NOC2L_HUMAN&rb=1&re=200&var=R75L	deleterious(0.01)				YES	NOC2L,missense_variant,p.Arg75Leu,ENST00000327044,NM_015658.3;KLHL17,upstream_gene_variant,,ENST00000338591,NM_198317.2;NOC2L,non_coding_transcript_exon_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;KLHL17,upstream_gene_variant,,ENST00000463212,;NOC2L,downstream_gene_variant,,ENST00000469563,;							MODERATE	224/2250	R75L	NOC2L_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000317992		CCDS3.1			1	
TTLL1	0	LGGM	GRCh37	22	43447891	43447891	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	39	4	.	.	ENST00000266254.7:c.894G>T	p.Pro298=	p.P298=	ENST00000266254	NM_012263.4	298	ccG/ccT	0	1	1	UPI00001377A7	0		ENST00000266254		ENSG00000100271	1312		43			HGNC	p.P298P		TTLL1		SNV							ENST00000266254	protein_coding			PROSITE_profiles:PS51221,hmmpanther:PTHR12241:SF31,hmmpanther:PTHR12241,Pfam_domain:PF03133,Superfamily_domains:SSF56059		P		A		1135/1645							YES	TTLL1,splice_region_variant,p.=,ENST00000266254,NM_012263.4;TTLL1,intron_variant,,ENST00000331018,;AL022476.2,intron_variant,,ENST00000443063,;TTLL1,splice_region_variant,,ENST00000440761,;TTLL1,splice_region_variant,,ENST00000439248,;							LOW	894/1272		TTLL1_HUMAN			Transcript			.	ENSP00000266254		CCDS14043.1			1	
UNC80	0	LGGM	GRCh37	2	210843292	210843292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	39	4	.	.	ENST00000439458.1:c.8780C>A	p.Ser2927Tyr	p.S2927Y	ENST00000439458	NM_032504.1	2927	tCc/tAc	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		43	0.345		HGNC	p.S2927Y		UNC80		SNV							ENST00000439458	protein_coding	getma.org/?cm=var&var=hg19,2,210843292,C,A&fts=all		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		S/Y		A	neutral	8860/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=2911&re=3257&var=S2927Y					YES	UNC80,missense_variant,p.Ser2927Tyr,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Ser2922Tyr,ENST00000272845,NM_182587.3;UNC80,missense_variant,p.Ser453Tyr,ENST00000333907,;UNC80,missense_variant,p.Ser373Tyr,ENST00000539183,;UNC80,non_coding_transcript_exon_variant,,ENST00000477924,;							MODERATE	8780/9777	S2927Y	UNC80_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000391088		CCDS46504.1			1	
AFAP1	0	LGGM	GRCh37	4	7811434	7811434	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	26	4	.	.	ENST00000420658.1:c.961G>T	p.Gly321Trp	p.G321W	ENST00000420658	NM_001134647.1	321	Ggg/Tgg	0	1		UPI0000233618	0	NA	ENST00000358461		ENSG00000196526	24017		30	2.015		HGNC	p.G321W		AFAP1		SNV							ENST00000358461	protein_coding	getma.org/?cm=var&var=hg19,4,7811434,C,A&fts=all		hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF8		G/W		A	medium	1234/7516		getma.org/?cm=msa&ty=f&p=AFAP1_HUMAN&rb=250&re=347&var=G321W	deleterious(0)					AFAP1,missense_variant,p.Gly321Trp,ENST00000420658,NM_001134647.1;AFAP1,missense_variant,p.Gly321Trp,ENST00000358461,NM_198595.2;AFAP1,missense_variant,p.Gly321Trp,ENST00000360265,;AFAP1,missense_variant,p.Gly321Trp,ENST00000382543,;							MODERATE	961/2193	G321W	AFAP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351245		CCDS3397.1			1	
XRN2	0	LGGM	GRCh37	20	21346264	21346264	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	53	4	.	.	ENST00000377191.3:c.2378G>T	p.Arg793Leu	p.R793L	ENST00000377191	NM_012255.3	793	cGg/cTg	0	1	1	UPI0000037D02	0	NA	ENST00000377191		ENSG00000088930	12836		57	2.085		HGNC	p.R739L		XRN2		SNV							ENST00000539513	protein_coding	getma.org/?cm=var&var=hg19,20,21346264,G,T&fts=all		hmmpanther:PTHR12341,PIRSF_domain:PIRSF037239		R/L		T	medium	2473/3435		getma.org/?cm=msa&ty=f&p=XRN2_HUMAN&rb=656&re=855&var=R793L	deleterious(0.03)	B4DZC3_HUMAN			YES	XRN2,missense_variant,p.Arg793Leu,ENST00000377191,NM_012255.3;XRN2,missense_variant,p.Arg739Leu,ENST00000539513,;XRN2,missense_variant,p.Arg717Leu,ENST00000430571,;							MODERATE	2378/2853	R793L	XRN2_HUMAN			Transcript		benign(0.235)	.	ENSP00000366396		CCDS13144.1			1	
ITIH5	0	LGGM	GRCh37	10	7608282	7608282	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	4	.	.	ENST00000256861.6:c.2238C>G	p.Ile746Met	p.I746M	ENST00000256861	NM_030569.6	746	atC/atG	0	1	1	UPI00001F8AF3	0		ENST00000256861		ENSG00000123243	21449		25			HGNC	p.I528M		ITIH5		SNV							ENST00000446830	protein_coding			hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Pfam_domain:PF06668		I/M		C		2317/6722			deleterious(0)				YES	ITIH5,missense_variant,p.Ile746Met,ENST00000256861,NM_030569.6;ITIH5,missense_variant,p.Ile528Met,ENST00000446830,;ITIH5,missense_variant,p.Ile532Met,ENST00000298441,NM_032817.5;ITIH5,intron_variant,,ENST00000397146,;ITIH5,non_coding_transcript_exon_variant,,ENST00000473591,;ITIH5,downstream_gene_variant,,ENST00000492668,;							MODERATE	2238/2871		ITIH5_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000256861					1	
PLXNA1	0	LGGM	GRCh37	3	126736360	126736360	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	4	.	.	ENST00000393409.2:c.3369G>T	p.Pro1123=	p.P1123=	ENST00000393409	NM_032242.3	1123	ccG/ccT	0	1	1	UPI00001A7983	0		ENST00000393409		ENSG00000114554	9099		42			HGNC	p.P1123P		PLXNA1		SNV							ENST00000393409	protein_coding			hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,SMART_domains:SM00429,Superfamily_domains:SSF81296		P		T		3369/9066				Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,synonymous_variant,p.=,ENST00000251772,;PLXNA1,synonymous_variant,p.=,ENST00000393409,NM_032242.3;							LOW	3369/5691		PLXA1_HUMAN			Transcript			.	ENSP00000377061		CCDS33847.2			1	
EXOSC1	0	LGGM	GRCh37	10	99196243	99196243	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	73	5	.	.	ENST00000370902.3:c.547C>A	p.Arg183=	p.R183=	ENST00000370902	NM_016046.3	183	Cgg/Agg	0	1	1	UPI0000128542	0		ENST00000370902		ENSG00000171311	17286		78			HGNC	p.R183R		EXOSC1		SNV							ENST00000370902	protein_coding			hmmpanther:PTHR12686,hmmpanther:PTHR12686:SF8,Superfamily_domains:SSF50249		R		T		579/923							YES	EXOSC1,synonymous_variant,p.=,ENST00000370902,NM_016046.3;EXOSC1,synonymous_variant,p.=,ENST00000370886,;EXOSC1,synonymous_variant,p.=,ENST00000370885,;EXOSC1,synonymous_variant,p.=,ENST00000485122,;EXOSC1,synonymous_variant,p.=,ENST00000370884,;EXOSC1,synonymous_variant,p.=,ENST00000477692,;PGAM1,downstream_gene_variant,,ENST00000334828,NM_002629.2;PGAM1,downstream_gene_variant,,ENST00000467867,;EXOSC1,downstream_gene_variant,,ENST00000471049,;EXOSC1,downstream_gene_variant,,ENST00000472345,;EXOSC1,downstream_gene_variant,,ENST00000476234,;							LOW	547/588		EXOS1_HUMAN			Transcript			.	ENSP00000359939		CCDS7459.1			1	
B3GNT1	0	LGGM	GRCh37	11	66114865	66114865	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	0	5	.	.	ENST00000311181.4:c.152C>T	p.Pro51Leu	p.P51L	ENST00000311181	NM_006876.2	51	cCg/cTg	0	1	1	UPI00000358A1	0	NA	ENST00000311181		ENSG00000174684	15685		5	0		HGNC	p.P51L	rs531686913	B3GNT1	0.000536	SNV			1				ENST00000311181	protein_coding	getma.org/?cm=var&var=hg19,11,66114865,G,A&fts=all	A:0	hmmpanther:PTHR12270:SF20,hmmpanther:PTHR12270		P/L		A	neutral	299/2072	0.000214	getma.org/?cm=msa&ty=f&p=B3GN1_HUMAN&rb=33&re=93&var=P51L	tolerated(0.12)	B4DGI0_HUMAN	A:0	A:0.001	YES	B3GNT1,missense_variant,p.Pro51Leu,ENST00000311181,NM_006876.2;BRMS1,upstream_gene_variant,,ENST00000359957,NM_015399.3;BRMS1,upstream_gene_variant,,ENST00000425825,NM_001024957.1;BRMS1,upstream_gene_variant,,ENST00000530756,;RP11-867G23.8,upstream_gene_variant,,ENST00000531602,;RP11-867G23.8,upstream_gene_variant,,ENST00000580881,;RP11-867G23.8,upstream_gene_variant,,ENST00000581155,;BRMS1,upstream_gene_variant,,ENST00000530238,;BRMS1,upstream_gene_variant,,ENST00000527375,;BRMS1,upstream_gene_variant,,ENST00000534617,;BRMS1,upstream_gene_variant,,ENST00000525127,;BRMS1,upstream_gene_variant,,ENST00000529544,;	0.00604	A:0.0002					MODERATE	152/1248	P51L	B3GN1_HUMAN		A:0	Transcript		benign(0.007)	common_variant	ENSP00000309096	0.000315	CCDS8136.1	0.00676	A:0	1	
DNAH5	0	LGGM	GRCh37	5	13809250	13809250	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	78	5	.	.	ENST00000265104.4:c.7655C>A	p.Pro2552Gln	p.P2552Q	ENST00000265104	NM_001369.2	2552	cCg/cAg	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		83	3.025		HGNC	p.P2552Q		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13809250,G,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		P/Q		T	medium	7760/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=2394&re=2553&var=P2552Q		O95496_HUMAN			YES	DNAH5,missense_variant,p.Pro2552Gln,ENST00000265104,NM_001369.2;DNAH5,non_coding_transcript_exon_variant,,ENST00000512443,;							MODERATE	7655/13875	P2552Q	DYH5_HUMAN			Transcript		possibly_damaging(0.884)	.	ENSP00000265104		CCDS3882.1			1	
TOX	0	LGGM	GRCh37	8	59852040	59852040	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	62	5	.	.	ENST00000361421.1:c.232C>A	p.Leu78Ile	p.L78I	ENST00000361421	NM_014729.2	78	Ctc/Atc	0	1	1	UPI0000070A73	0	NA	ENST00000361421		ENSG00000198846	18988		67	1.735		HGNC	p.L78I		TOX		SNV							ENST00000361421	protein_coding	getma.org/?cm=var&var=hg19,8,59852040,G,T&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF155		L/I		T	low	453/4131		getma.org/?cm=msa&ty=f&p=TOX_HUMAN&rb=1&re=200&var=L78I	tolerated(0.27)	B4DYA1_HUMAN			YES	TOX,missense_variant,p.Leu78Ile,ENST00000361421,NM_014729.2;							MODERATE	232/1581	L78I	TOX_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000354842		CCDS34897.1			1	
MYO1A	0	LGGM	GRCh37	12	57441411	57441411	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	5	.	.	ENST00000442789.2:c.325G>T	p.Glu109Ter	p.E109*	ENST00000442789	NM_001256041.1	109	Gag/Tag	0	1		UPI000012FAC2	0	NA	ENST00000300119		ENSG00000166866	7595		33	0		HGNC	p.E109X		MYO1A		SNV			1				ENST00000442789	protein_coding	getma.org/?cm=var&var=hg19,12,57441411,C,A&fts=all		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291,SMART_domains:SM00242,Superfamily_domains:SSF52540		E/*		A	NA	576/3621		NA		Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN				MYO1A,stop_gained,p.Glu109Ter,ENST00000442789,NM_001256041.1;MYO1A,stop_gained,p.Glu109Ter,ENST00000300119,NM_005379.3;MYO1A,splice_region_variant,,ENST00000544473,;MYO1A,intron_variant,,ENST00000492945,;MYO1A,downstream_gene_variant,,ENST00000433964,;MYO1A,downstream_gene_variant,,ENST00000471791,;MYO1A,splice_region_variant,,ENST00000554234,;							HIGH	325/3132	E109*	MYO1A_HUMAN			Transcript			.	ENSP00000300119		CCDS8929.1			1	
GEMIN5	0	LGGM	GRCh37	5	154305528	154305528	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	74	5	.	.	ENST00000285873.7:c.1187C>A	p.Ala396Asp	p.A396D	ENST00000285873	NM_001252156.1	396	gCc/gAc	0	1	1	UPI000020D072	0	getma.org/pdb.php?prot=GEMI5_HUMAN&from=256&to=455&var=A396D	ENST00000285873		ENSG00000082516	20043		79	3.42		HGNC	p.A396D		GEMIN5		SNV							ENST00000285873	protein_coding	getma.org/?cm=var&var=hg19,5,154305528,G,T&fts=all		Gene3D:2.130.10.10,PROSITE_patterns:PS00678,PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89,SMART_domains:SM00320,Superfamily_domains:SSF50998		A/D		T	medium	1263/5397		getma.org/?cm=msa&ty=f&p=GEMI5_HUMAN&rb=256&re=455&var=A396D	deleterious(0)	Q58EZ8_HUMAN			YES	GEMIN5,missense_variant,p.Ala396Asp,ENST00000285873,NM_001252156.1,NM_015465.4;GEMIN5,downstream_gene_variant,,ENST00000523355,;							MODERATE	1187/4527	A396D	GEMI5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000285873		CCDS4330.1			1	
ZC3HAV1	0	LGGM	GRCh37	7	138764582	138764582	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	77	5	.	.	ENST00000242351.5:c.1105C>A	p.Gln369Lys	p.Q369K	ENST00000242351	NM_020119.3	369	Caa/Aaa	0	1	1	UPI00001612AE	0	NA	ENST00000242351		ENSG00000105939	23721		82	-1.1		HGNC	p.Q369K		ZC3HAV1		SNV							ENST00000242351	protein_coding	getma.org/?cm=var&var=hg19,7,138764582,G,T&fts=all		hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49		Q/K		T	neutral	1422/7100		getma.org/?cm=msa&ty=f&p=ZCCHV_HUMAN&rb=201&re=400&var=Q369K	tolerated(0.48)				YES	ZC3HAV1,missense_variant,p.Gln369Lys,ENST00000242351,NM_020119.3;ZC3HAV1,missense_variant,p.Gln369Lys,ENST00000464606,;ZC3HAV1,missense_variant,p.Gln369Lys,ENST00000471652,NM_024625.3;ZC3HAV1,upstream_gene_variant,,ENST00000460845,;							MODERATE	1105/2709	Q369K	ZCCHV_HUMAN			Transcript		benign(0)	.	ENSP00000242351		CCDS5851.1			1	
SPATS1	0	LGGM	GRCh37	6	44329698	44329698	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	85	5	.	.	ENST00000288390.2:c.543G>T	p.Thr181=	p.T181=	ENST00000288390		181	acG/acT	0	1	1	UPI0000072310	0		ENST00000288390		ENSG00000249481	22957		90			HGNC	p.T181T		SPATS1		SNV							ENST00000323108	protein_coding			Pfam_domain:PF15160		T		T		890/1354				H0Y9A9_HUMAN			YES	SPATS1,synonymous_variant,p.=,ENST00000288390,;SPATS1,synonymous_variant,p.=,ENST00000323108,NM_145026.3;SPATS1,downstream_gene_variant,,ENST00000515220,;RP11-444E17.6,3_prime_UTR_variant,,ENST00000505802,;SPATS1,3_prime_UTR_variant,,ENST00000506468,;							LOW	543/903		SPAS1_HUMAN			Transcript			.	ENSP00000424400		CCDS4911.1			1	
AP3B1	0	LGGM	GRCh37	5	77334917	77334917	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	55	5	.	.	ENST00000255194.6:c.2759G>T	p.Gly920Val	p.G920V	ENST00000255194		920	gGg/gTg	0	1	1	UPI00001AE77D	0	NA	ENST00000255194		ENSG00000132842	566		60	1.59		HGNC	p.G871V		AP3B1		SNV			1				ENST00000519295	protein_coding	getma.org/?cm=var&var=hg19,5,77334917,C,A&fts=all		hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Pfam_domain:PF14796,PIRSF_domain:PIRSF037096		G/V		A	low	2935/5838		getma.org/?cm=msa&ty=f&p=AP3B1_HUMAN&rb=727&re=926&var=G920V	deleterious(0.01)	E5RJ68_HUMAN			YES	AP3B1,missense_variant,p.Gly920Val,ENST00000255194,;AP3B1,missense_variant,p.Gly871Val,ENST00000519295,NM_001271769.1,NM_003664.4;AP3B1,missense_variant,p.Gly20Val,ENST00000522901,;AP3B1,non_coding_transcript_exon_variant,,ENST00000523204,;CTD-2179L22.1,downstream_gene_variant,,ENST00000517330,;							MODERATE	2759/3285	G920V	AP3B1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000255194		CCDS4041.1			1	
LILRB5	0	LGGM	GRCh37	19	54759385	54759385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	15	5	.	.	ENST00000449561.2:c.716G>A	p.Ser239Asn	p.S239N	ENST00000449561		239	aGc/aAc	0	1	1	UPI0000202BB5	0	getma.org/pdb.php?prot=LIRB5_HUMAN&from=223&to=300&var=S239N	ENST00000449561		ENSG00000105609	6609		20	-0.335		HGNC	p.S230N	COSM3893382,COSM3893383	LILRB5		SNV						1,1	ENST00000450632	protein_coding	getma.org/?cm=var&var=hg19,19,54759385,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/N		T	neutral	787/2137		getma.org/?cm=msa&ty=f&p=LIRB5_HUMAN&rb=223&re=300&var=S239N	tolerated(0.78)				YES	LILRB5,missense_variant,p.Ser230Asn,ENST00000450632,;LILRB5,missense_variant,p.Ser239Asn,ENST00000316219,NM_001081442.1,NM_006840.3;LILRB5,missense_variant,p.Ser239Asn,ENST00000449561,;LILRB5,missense_variant,p.Ser139Asn,ENST00000345866,NM_001081443.1;LILRB5,non_coding_transcript_exon_variant,,ENST00000463460,;LILRB5,non_coding_transcript_exon_variant,,ENST00000466581,;					1,1		MODERATE	716/1776	S239N	LIRB5_HUMAN			Transcript		benign(0.096)	.	ENSP00000406478		CCDS46176.1			1	
IFIT2	0	LGGM	GRCh37	10	91066569	91066569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	75	5	.	.	ENST00000371826.3:c.856C>A	p.Gln286Lys	p.Q286K	ENST00000371826	NM_001547.4	286	Caa/Aaa	0	1	1	UPI000012D3E4	0	NA	ENST00000371826		ENSG00000119922	5409		80	2.78		HGNC	p.Q286K		IFIT2		SNV							ENST00000371826	protein_coding	getma.org/?cm=var&var=hg19,10,91066569,C,A&fts=all		hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10,Pfam_domain:PF13414		Q/K		A	medium	1025/3489		getma.org/?cm=msa&ty=f&p=IFIT2_HUMAN&rb=246&re=297&var=Q286K	tolerated(0.08)				YES	IFIT2,missense_variant,p.Gln286Lys,ENST00000371826,NM_001547.4;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;							MODERATE	856/1419	Q286K	IFIT2_HUMAN			Transcript		benign(0.113)	.	ENSP00000360891		CCDS41548.1			1	
RPS4XP21	0	LGGM	GRCh37	19	34583934	34583934	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	97	5	.	.	ENST00000469064.2:n.282G>T		*94*	ENST00000469064				0	1	1		0		ENST00000469064		ENSG00000186008	36228		102			HGNC	p.T105T		RPS4XP21		SNV							ENST00000469064	processed_pseudogene							A		282/771							YES	RPS4XP21,non_coding_transcript_exon_variant,,ENST00000469064,;RPS4XP21,non_coding_transcript_exon_variant,,ENST00000603814,;							MODIFIER						Transcript			.						1	
TRAPPC9	0	LGGM	GRCh37	8	141294066	141294066	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	82	5	.	.	ENST00000389328.4:c.2330C>A	p.Pro777Gln	p.P777Q	ENST00000389328	NM_031466.5	777	cCg/cAg	0	1		UPI00001A46C7	0	NA	ENST00000438773		ENSG00000167632	30832		87	0		HGNC	p.P670Q		TRAPPC9		SNV			1				ENST00000389327	protein_coding	getma.org/?cm=var&var=hg19,8,141294066,G,T&fts=all		Pfam_domain:PF08626,hmmpanther:PTHR21512,hmmpanther:PTHR21512:SF11		P/Q		T	neutral	2170/4297		getma.org/?cm=msa&ty=f&p=TPPC9_HUMAN&rb=1&re=1108&var=P679Q	tolerated(0.52)					TRAPPC9,missense_variant,p.Pro777Gln,ENST00000389328,NM_031466.5;TRAPPC9,missense_variant,p.Pro679Gln,ENST00000438773,NM_001160372.1;TRAPPC9,missense_variant,p.Pro670Gln,ENST00000389327,;TRAPPC9,missense_variant,p.Pro523Gln,ENST00000520857,;TRAPPC9,non_coding_transcript_exon_variant,,ENST00000521667,;TRAPPC9,downstream_gene_variant,,ENST00000521167,;							MODERATE	2036/3447	P679Q	TPPC9_HUMAN			Transcript		benign(0.01)	.	ENSP00000405060		CCDS55278.1			1	
SLC25A40	0	LGGM	GRCh37	7	87473142	87473142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	67	5	.	.	ENST00000341119.5:c.668G>T	p.Trp223Leu	p.W223L	ENST00000341119	NM_018843.3	223	tGg/tTg	0	1	1	UPI0000071FF6	0	NA	ENST00000341119		ENSG00000075303	29680		72	-0.105		HGNC	p.W223L		SLC25A40		SNV							ENST00000341119	protein_coding	getma.org/?cm=var&var=hg19,7,87473142,C,A&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF225,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588		W/L		A	neutral	1015/4045		getma.org/?cm=msa&ty=f&p=S2540_HUMAN&rb=137&re=228&var=W223L	tolerated(0.72)				YES	SLC25A40,missense_variant,p.Trp223Leu,ENST00000341119,NM_018843.3;SLC25A40,missense_variant,p.Trp12Leu,ENST00000446236,;SLC25A40,intron_variant,,ENST00000429674,;SLC25A40,upstream_gene_variant,,ENST00000470328,;SLC25A40,upstream_gene_variant,,ENST00000496348,;							MODERATE	668/1017	W223L	S2540_HUMAN			Transcript		benign(0.003)	.	ENSP00000344831		CCDS5610.1			1	
IGLV6-57	0	LGGM	GRCh37	22	22550489	22550489	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	6	.	.	ENST00000390285.3:c.166T>C	p.Tyr56His	p.Y56H	ENST00000390285		56	Tac/Cac	0	1	1	UPI000049DF7D	0		ENST00000390285		ENSG00000211640	5927		38			HGNC	p.Y56H		IGLV6-57		SNV							ENST00000390285	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00406,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267:SF108,hmmpanther:PTHR23267,PROSITE_profiles:PS50835		Y/H		C		252/623			deleterious_low_confidence(0.01)	Q5NV88_HUMAN			YES	IGLV6-57,missense_variant,p.Tyr56His,ENST00000390285,;IGLVI-56,upstream_gene_variant,,ENST00000521342,;							MODERATE	166/447					Transcript		probably_damaging(0.996)	.	ENSP00000374820					1	
LCP2	0	LGGM	GRCh37	5	169689739	169689739	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	91	6	.	.	ENST00000046794.5:c.826G>T	p.Gly276Trp	p.G276W	ENST00000046794	NM_005565.3	276	Ggg/Tgg	0	1	1	UPI000012E2AE	0	NA	ENST00000046794		ENSG00000043462	6529		97	1.78		HGNC	p.G276W		LCP2		SNV							ENST00000046794	protein_coding	getma.org/?cm=var&var=hg19,5,169689739,C,A&fts=all		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1		G/W		A	low	1442/4678		getma.org/?cm=msa&ty=f&p=LCP2_HUMAN&rb=77&re=276&var=G276W	deleterious(0)				YES	LCP2,missense_variant,p.Gly276Trp,ENST00000046794,NM_005565.3;LCP2,missense_variant,p.Gly71Trp,ENST00000521416,;LCP2,missense_variant,p.Gly43Trp,ENST00000520344,;LCP2,upstream_gene_variant,,ENST00000523369,;							MODERATE	826/1602	G276W	LCP2_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000046794		CCDS47339.1			1	
BMP8B	0	LGGM	GRCh37	1	40229424	40229424	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	63	6	.	.	ENST00000372827.3:c.908G>A	p.Arg303Gln	p.R303Q	ENST00000372827	NM_001720.3	303	cGg/cAg	0	1	1	UPI000013C9D9	0	getma.org/pdb.php?prot=BMP8B_HUMAN&from=298&to=402&var=R303Q	ENST00000372827		ENSG00000116985	1075		69	3.91		HGNC	p.R303Q	rs775172302	BMP8B		SNV							ENST00000372827	protein_coding	getma.org/?cm=var&var=hg19,1,40229424,C,T&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF00019,Prints_domain:PR00669,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF119,SMART_domains:SM00204,Superfamily_domains:SSF57501		R/Q		T	high	1284/4822	1.51E-05	getma.org/?cm=msa&ty=f&p=BMP8B_HUMAN&rb=298&re=402&var=R303Q	deleterious(0.03)				YES	BMP8B,missense_variant,p.Arg303Gln,ENST00000372827,NM_001720.3;BMP8B,missense_variant,p.Arg328Gln,ENST00000397360,;PPIE,3_prime_UTR_variant,,ENST00000372830,NM_001195007.1;PPIE,3_prime_UTR_variant,,ENST00000356511,NM_203456.2;PPIE,non_coding_transcript_exon_variant,,ENST00000467741,;							MODERATE	908/1209	R303Q	BMP8B_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000361915	8.24E-06	CCDS444.1			1	
OR52W1	0	LGGM	GRCh37	11	6220621	6220621	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	6	.	.	ENST00000311352.2:c.168A>G	p.Ile56Met	p.I56M	ENST00000311352	NM_001005178.1	56	atA/atG	0	1	1	UPI000004B213	0	getma.org/pdb.php?prot=O52W1_HUMAN&from=1&to=138&var=I56M	ENST00000311352		ENSG00000175485	15239		31	0.68		HGNC	p.I56M		OR52W1		SNV							ENST00000311352	protein_coding	getma.org/?cm=var&var=hg19,11,6220621,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF58,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		I/M		G	neutral	246/1114		getma.org/?cm=msa&ty=f&p=O52W1_HUMAN&rb=1&re=138&var=I56M	tolerated(0.36)				YES	OR52W1,missense_variant,p.Ile56Met,ENST00000311352,NM_001005178.1;RP11-290F24.6,downstream_gene_variant,,ENST00000600308,;							MODERATE	168/963	I56M	O52W1_HUMAN			Transcript		benign(0.006)	.	ENSP00000309673		CCDS31407.1			1	
PCDH15	0	LGGM	GRCh37	10	56138563	56138563	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	77	6	.	.	ENST00000361849.3:c.297C>A	p.Thr99=	p.T99=	ENST00000361849	NM_001142768.1	99	acC/acA	0	1		UPI000014083E	0		ENST00000320301		ENSG00000150275	14674		83			HGNC	p.T99T	rs762026724	PCDH15		SNV			1				ENST00000437009	protein_coding			SMART_domains:SM00112		T		T		692/6845	1.50E-05			A2A3D9_HUMAN				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.=,ENST00000373955,;PCDH15,synonymous_variant,p.=,ENST00000373957,;PCDH15,synonymous_variant,p.=,ENST00000395446,;PCDH15,synonymous_variant,p.=,ENST00000395440,;PCDH15,synonymous_variant,p.=,ENST00000395442,;PCDH15,intron_variant,,ENST00000409834,;PCDH15,downstream_gene_variant,,ENST00000458638,;PCDH15,intron_variant,,ENST00000495484,;PCDH15,synonymous_variant,p.=,ENST00000448885,;PCDH15,synonymous_variant,p.=,ENST00000414367,;PCDH15,intron_variant,,ENST00000373956,;							LOW	297/5868		PCD15_HUMAN			Transcript			.	ENSP00000322604	8.24E-06	CCDS7248.1			1	
VCAN	0	LGGM	GRCh37	5	82841451	82841451	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	138	6	.	.	ENST00000265077.3:c.9361G>T	p.Gly3121Ter	p.G3121*	ENST00000265077	NM_004385.4	3121	Gga/Tga	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		144	0		HGNC	p.G380X	COSM336851	VCAN		SNV			1			1	ENST00000502527	protein_coding	getma.org/?cm=var&var=hg19,5,82841451,G,T&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF00008,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50026		G/*		T	NA	9926/12625		NA					YES	VCAN,stop_gained,p.Gly3121Ter,ENST00000265077,NM_004385.4;VCAN,stop_gained,p.Gly2134Ter,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,stop_gained,p.Gly1367Ter,ENST00000342785,NM_001164098.1;VCAN,stop_gained,p.Gly1319Ter,ENST00000512590,;VCAN,stop_gained,p.Gly380Ter,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,;					1		HIGH	9361/10191	G3121*	CSPG2_HUMAN			Transcript			.	ENSP00000265077		CCDS4060.1			1	
MEOX2	0	LGGM	GRCh37	7	15725637	15725637	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	21	6	.	.	ENST00000262041.5:c.391T>C	p.Ser131Pro	p.S131P	ENST00000262041	NM_005924.4	131	Tct/Cct	0	1	1	UPI000013D247	0	NA	ENST00000262041		ENSG00000106511	7014		27	0		HGNC	p.S131P		MEOX2		SNV							ENST00000262041	protein_coding	getma.org/?cm=var&var=hg19,7,15725637,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24328:SF1,hmmpanther:PTHR24328		S/P		G	neutral	801/2500		getma.org/?cm=msa&ty=f&p=MEOX2_HUMAN&rb=1&re=187&var=S131P	tolerated(0.31)	Q6FHY5_HUMAN,A4D127_HUMAN			YES	MEOX2,missense_variant,p.Ser131Pro,ENST00000262041,NM_005924.4;AC005550.4,upstream_gene_variant,,ENST00000442176,;AC005550.5,downstream_gene_variant,,ENST00000438923,;AC005550.3,downstream_gene_variant,,ENST00000451240,;							MODERATE	391/915	S131P	MEOX2_HUMAN			Transcript		benign(0.021)	.	ENSP00000262041		CCDS34605.1			1	
ST6GALNAC2	0	LGGM	GRCh37	17	74557421	74557421	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	89	6	.	.	ENST00000448136.1:n.1318G>T		*440*	ENST00000448136				0	1	1	UPI000000D98B	0		ENST00000225276		ENSG00000070731	10867		95		4040	HGNC	p.G20C		ST6GALNAC2		SNV							ENST00000591956	protein_coding							T		-/2170							YES	ST6GALNAC2,downstream_gene_variant,,ENST00000225276,NM_006456.2;ST6GALNAC2,downstream_gene_variant,,ENST00000588920,;SNHG16,non_coding_transcript_exon_variant,,ENST00000448136,;SNHG16,non_coding_transcript_exon_variant,,ENST00000493536,;SNHG16,non_coding_transcript_exon_variant,,ENST00000590435,;SNHG16,non_coding_transcript_exon_variant,,ENST00000587838,;SNHG16,non_coding_transcript_exon_variant,,ENST00000586942,;SNHG16,non_coding_transcript_exon_variant,,ENST00000591956,;SNHG16,downstream_gene_variant,,ENST00000586846,;SNORD1B,downstream_gene_variant,,ENST00000363091,NR_004396.1;SNHG16,downstream_gene_variant,,ENST00000363315,NR_004397.1;SNHG16,upstream_gene_variant,,ENST00000364968,NR_004395.1;RP11-666A8.8,upstream_gene_variant,,ENST00000589963,;RP11-666A8.8,upstream_gene_variant,,ENST00000592622,;RP11-666A8.8,upstream_gene_variant,,ENST00000591967,;ST6GALNAC2,downstream_gene_variant,,ENST00000589997,;SNHG16,downstream_gene_variant,,ENST00000587743,;ST6GALNAC2,downstream_gene_variant,,ENST00000585390,;							MODIFIER	-/1125		SIA7B_HUMAN			Transcript			.	ENSP00000225276		CCDS11747.1			1	
PCDHB16	0	LGGM	GRCh37	5	140563807	140563807	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	25	7	.	.	ENST00000361016.2:c.1673C>A	p.Ser558Ter	p.S558*	ENST00000361016	NM_020957.1	558	tCg/tAg	0	1	1	UPI000006D372	0	NA	ENST00000361016		ENSG00000196963	14546		32	0		HGNC	p.S558X	COSM3994032	PCDHB16		SNV						1	ENST00000361016	protein_coding	getma.org/?cm=var&var=hg19,5,140563807,C,A&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF71,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		S/*		A	NA	2828/4814		NA					YES	PCDHB16,stop_gained,p.Ser558Ter,ENST00000361016,NM_020957.1;PCDHB8,downstream_gene_variant,,ENST00000239444,NM_019120.3;PCDHB9,upstream_gene_variant,,ENST00000316105,;					1		HIGH	1673/2331	S558*	PCDBG_HUMAN			Transcript			.	ENSP00000354293		CCDS4251.1			1	
BMP8A	0	LGGM	GRCh37	1	39988114	39988114	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	14	7	.	.	ENST00000331593.5:c.908G>A	p.Arg303Gln	p.R303Q	ENST00000331593	NM_181809.3	303	cGg/cAg	0	1	1	UPI00002057D6	0	getma.org/pdb.php?prot=BMP8A_HUMAN&from=298&to=402&var=R303Q	ENST00000331593		ENSG00000183682	21650		21	3.905		HGNC	p.R303Q	rs779262942	BMP8A		SNV							ENST00000331593	protein_coding	getma.org/?cm=var&var=hg19,1,39988114,G,A&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF00019,Prints_domain:PR00669,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF119,SMART_domains:SM00204,Superfamily_domains:SSF57501		R/Q		A	high	1254/1692	1.50E-05	getma.org/?cm=msa&ty=f&p=BMP8A_HUMAN&rb=298&re=402&var=R303Q	deleterious(0.04)				YES	BMP8A,missense_variant,p.Arg303Gln,ENST00000331593,NM_181809.3;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000331856,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000458207,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000440190,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000450157,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000431553,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000441741,;RP11-69E11.4,non_coding_transcript_exon_variant,,ENST00000417869,;							MODERATE	908/1209	R303Q	BMP8A_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000327440	8.24E-06	CCDS437.1			1	
EPHA7	0	LGGM	GRCh37	6	94124422	94124422	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	45	8	.	.	ENST00000369303.4:c.161G>T	p.Gly54Val	p.G54V	ENST00000369303	NM_004440.3	54	gGg/gTg	0	1	1	UPI0000044771	0	getma.org/pdb.php?prot=EPHA7_HUMAN&from=32&to=205&var=G54V	ENST00000369303		ENSG00000135333	3390		53	3.17		HGNC	p.G54V		EPHA7		SNV							ENST00000369297	protein_coding	getma.org/?cm=var&var=hg19,6,94124422,C,A&fts=all		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		G/V		A	medium	346/6588		getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=32&re=205&var=G54V	deleterious(0)				YES	EPHA7,missense_variant,p.Gly54Val,ENST00000369303,NM_004440.3,NM_001288629.1;EPHA7,missense_variant,p.Gly54Val,ENST00000369297,NM_001288630.1;							MODERATE	161/2997	G54V	EPHA7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358309		CCDS5031.1			1	
NPR1	0	LGGM	GRCh37	1	153657544	153657544	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	36	8	.	.	ENST00000368680.3:c.1589G>A	p.Arg530Gln	p.R530Q	ENST00000368680	NM_000906.3	530	cGg/cAg	0	1	1	UPI0000125B3D	0	NA	ENST00000368680		ENSG00000169418	7943	8.66E-05	44	1.525		HGNC	p.R530Q	rs775817278	NPR1	0.000546	SNV							ENST00000368680	protein_coding	getma.org/?cm=var&var=hg19,1,153657544,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF232		R/Q		A	low	2061/4236	3.02E-05	getma.org/?cm=msa&ty=f&p=ANPRA_HUMAN&rb=528&re=805&var=R530Q	tolerated(0.18)				YES	NPR1,missense_variant,p.Arg530Gln,ENST00000368680,NM_000906.3;NPR1,downstream_gene_variant,,ENST00000413826,;NPR1,upstream_gene_variant,,ENST00000368677,;							MODERATE	1589/3186	R530Q	ANPRA_HUMAN			Transcript		possibly_damaging(0.656)	common_variant	ENSP00000357669	9.88E-05	CCDS1051.1			1	
PARD3	0	LGGM	GRCh37	10	34663812	34663812	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	230	10	.	.	ENST00000374789.3:c.1658C>A	p.Pro553Gln	p.P553Q	ENST00000374789	NM_019619.3	553	cCa/cAa	0	1	1	UPI0000073A9F	0	NA	ENST00000374789		ENSG00000148498	16051		240	2.05		HGNC	p.P509Q		PARD3		SNV							ENST00000374790	protein_coding	getma.org/?cm=var&var=hg19,10,34663812,G,T&fts=all		Gene3D:2.30.42.10,hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10		P/Q		T	medium	1984/6005		getma.org/?cm=msa&ty=f&p=PARD3_HUMAN&rb=546&re=589&var=P553Q	deleterious(0)				YES	PARD3,missense_variant,p.Pro553Gln,ENST00000374789,NM_019619.3;PARD3,missense_variant,p.Pro553Gln,ENST00000374788,NM_001184785.1;PARD3,missense_variant,p.Pro553Gln,ENST00000545693,NM_001184786.1;PARD3,missense_variant,p.Pro553Gln,ENST00000346874,NM_001184787.1;PARD3,missense_variant,p.Pro553Gln,ENST00000350537,NM_001184788.1,NM_001184789.1;PARD3,missense_variant,p.Pro509Gln,ENST00000374790,;PARD3,missense_variant,p.Pro509Gln,ENST00000545260,NM_001184790.1;PARD3,missense_variant,p.Pro509Gln,ENST00000374794,NM_001184791.1;PARD3,missense_variant,p.Pro553Gln,ENST00000340077,NM_001184792.1;PARD3,missense_variant,p.Pro553Gln,ENST00000374773,NM_001184793.1;PARD3,missense_variant,p.Pro553Gln,ENST00000374776,NM_001184794.1;PARD3,missense_variant,p.Pro283Gln,ENST00000544292,;PARD3,upstream_gene_variant,,ENST00000374768,;							MODERATE	1658/4071	P553Q	PARD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363921		CCDS7178.1			1	
GPR149	0	LGGM	GRCh37	3	154146811	154146811	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	24	9	.	.	ENST00000389740.2:c.594C>T	p.Tyr198=	p.Y198=	ENST00000389740	NM_001038705.1	198	taC/taT	0	1	1	UPI00001AEEA9	0		ENST00000389740		ENSG00000174948	23627		33			HGNC	p.Y198Y		GPR149		SNV							ENST00000389740	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF32,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y		A		694/2323				Q2MKA6_HUMAN			YES	GPR149,synonymous_variant,p.=,ENST00000389740,NM_001038705.1;							LOW	594/2196		GP149_HUMAN			Transcript			.	ENSP00000374390		CCDS43162.1			1	
PSD	0	LGGM	GRCh37	10	104176415	104176415	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	12	9	.	.	ENST00000020673.5:c.381G>A	p.Trp127Ter	p.W127*	ENST00000020673	NM_001270966.1	127	tgG/tgA	0	1	1	UPI0000404928	0	NA	ENST00000020673		ENSG00000059915	9507		21	0		HGNC	p.W127X		PSD		SNV							ENST00000020673	protein_coding	getma.org/?cm=var&var=hg19,10,104176415,C,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF115		W/*		T	NA	908/4183		NA					YES	PSD,stop_gained,p.Trp127Ter,ENST00000020673,NM_001270966.1,NM_002779.4;PSD,stop_gained,p.Trp127Ter,ENST00000406432,NM_001270965.1;FBXL15,upstream_gene_variant,,ENST00000224862,NM_024326.3;FBXL15,upstream_gene_variant,,ENST00000369956,;FBXL15,upstream_gene_variant,,ENST00000432590,;FBXL15,upstream_gene_variant,,ENST00000440407,;FBXL15,upstream_gene_variant,,ENST00000425536,;FBXL15,upstream_gene_variant,,ENST00000457067,;PSD,non_coding_transcript_exon_variant,,ENST00000472685,;PSD,downstream_gene_variant,,ENST00000492902,;FBXL15,upstream_gene_variant,,ENST00000481808,;PSD,upstream_gene_variant,,ENST00000488194,;							HIGH	381/3075	W127*	PSD1_HUMAN			Transcript			.	ENSP00000020673		CCDS31272.1			1	
PCDH17	0	LGGM	GRCh37	13	58298813	58298813	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	15	9	.	.	ENST00000377918.3:c.2865G>T	p.Met955Ile	p.M955I	ENST00000377918	NM_001040429.2	955	atG/atT	0	1	1	UPI00001FCE5B	0	NA	ENST00000377918		ENSG00000118946	14267		24	1.995		HGNC	p.M955I		PCDH17		SNV							ENST00000377918	protein_coding	getma.org/?cm=var&var=hg19,13,58298813,G,T&fts=all				M/I		T	medium	2891/7523		getma.org/?cm=msa&ty=f&p=PCD17_HUMAN&rb=751&re=1157&var=M955I	deleterious(0)				YES	PCDH17,missense_variant,p.Met955Ile,ENST00000377918,NM_001040429.2;PCDH17,3_prime_UTR_variant,,ENST00000484979,;							MODERATE	2865/3480	M955I	PCD17_HUMAN			Transcript		possibly_damaging(0.54)	.	ENSP00000367151		CCDS31986.1			1	
FAM188A	0	LGGM	GRCh37	10	15821061	15821061	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	18	9	.	.	ENST00000277632.3:c.1268G>A	p.Arg423His	p.R423H	ENST00000277632	NM_024948.2	423	cGc/cAc	0	1	1	UPI000006E7F1	0	NA	ENST00000277632		ENSG00000148481	23578	8.84E-05	27	0.69		HGNC	p.R128H	rs747031404	FAM188A	6.10E-05	SNV							ENST00000378036	protein_coding	getma.org/?cm=var&var=hg19,10,15821061,C,T&fts=all		hmmpanther:PTHR12473		R/H		T	neutral	1489/2381	1.51E-05	getma.org/?cm=msa&ty=f&p=F188A_HUMAN&rb=317&re=445&var=R423H	deleterious(0.03)				YES	FAM188A,missense_variant,p.Arg128His,ENST00000378036,;FAM188A,missense_variant,p.Arg423His,ENST00000277632,NM_024948.2;FAM188A,non_coding_transcript_exon_variant,,ENST00000477891,;FAM188A,non_coding_transcript_exon_variant,,ENST00000476912,;							MODERATE	1268/1338	R423H	F188A_HUMAN			Transcript		benign(0.186)	.	ENSP00000277632	2.47E-05	CCDS7110.1			1	
MEPE	0	LGGM	GRCh37	4	88766136	88766136	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	9	.	.	ENST00000424957.3:c.116A>T	p.Glu39Val	p.E39V	ENST00000424957	NM_001184694.1	39	gAa/gTa	0	1		UPI000003B034	0	NA	ENST00000361056		ENSG00000152595	13361		29	2.76		HGNC	p.K82X		MEPE		SNV							ENST00000511670	protein_coding	getma.org/?cm=var&var=hg19,4,88766136,A,T&fts=all		hmmpanther:PTHR16510		E/V		T	medium	156/1986		getma.org/?cm=msa&ty=f&p=MEPE_HUMAN&rb=1&re=75&var=E39V	deleterious(0)					MEPE,stop_gained,p.Lys82Ter,ENST00000511670,;MEPE,missense_variant,p.Glu15Val,ENST00000497649,;MEPE,missense_variant,p.Glu70Val,ENST00000395102,;MEPE,missense_variant,p.Glu39Val,ENST00000424957,NM_001184694.1;MEPE,missense_variant,p.Glu39Val,ENST00000361056,NM_020203.3;MEPE,5_prime_UTR_variant,,ENST00000560249,NM_001184697.1;MEPE,5_prime_UTR_variant,,ENST00000540395,NM_001184696.1,NM_001184695.1;MEPE,non_coding_transcript_exon_variant,,ENST00000508016,;MEPE,non_coding_transcript_exon_variant,,ENST00000515821,;							MODERATE	116/1578	E39V	MEPE_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000354341		CCDS3625.1			1	
MEPE	0	LGGM	GRCh37	4	88766135	88766135	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	20	9	.	.	ENST00000424957.3:c.115G>T	p.Glu39Ter	p.E39*	ENST00000424957	NM_001184694.1	39	Gaa/Taa	0	1		UPI000003B034	0	NA	ENST00000361056		ENSG00000152595	13361		29	0		HGNC	p.E39X		MEPE		SNV							ENST00000361056	protein_coding	getma.org/?cm=var&var=hg19,4,88766135,G,T&fts=all		hmmpanther:PTHR16510		E/*		T	NA	155/1986		NA						MEPE,stop_gained,p.Glu15Ter,ENST00000497649,;MEPE,stop_gained,p.Glu70Ter,ENST00000395102,;MEPE,stop_gained,p.Glu39Ter,ENST00000424957,NM_001184694.1;MEPE,stop_gained,p.Glu39Ter,ENST00000361056,NM_020203.3;MEPE,missense_variant,p.Lys81Asn,ENST00000511670,;MEPE,5_prime_UTR_variant,,ENST00000560249,NM_001184697.1;MEPE,5_prime_UTR_variant,,ENST00000540395,NM_001184696.1,NM_001184695.1;MEPE,non_coding_transcript_exon_variant,,ENST00000508016,;MEPE,non_coding_transcript_exon_variant,,ENST00000515821,;							HIGH	115/1578	E39*	MEPE_HUMAN			Transcript			.	ENSP00000354341		CCDS3625.1			1	
ISYNA1	0	LGGM	GRCh37	19	18546182	18546182	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	14	9	.	.	ENST00000338128.8:c.1366G>A	p.Val456Met	p.V456M	ENST00000338128	NM_001170938.1	456	Gtg/Atg	0	1	1	UPI00000424BB	0	getma.org/pdb.php?prot=INO1_HUMAN&from=59&to=491&var=V456M	ENST00000338128		ENSG00000105655	29821		23	2.71		HGNC	p.V254M	rs758356975	ISYNA1	0.000668	SNV							ENST00000317018	protein_coding	getma.org/?cm=var&var=hg19,19,18546182,C,T&fts=all		Superfamily_domains:SSF51735,PIRSF_domain:PIRSF015578,Gene3D:3.40.50.720,Pfam_domain:PF07994,hmmpanther:PTHR11510:SF5,hmmpanther:PTHR11510		V/M		T	medium	1584/2420		getma.org/?cm=msa&ty=f&p=INO1_HUMAN&rb=59&re=491&var=V456M	deleterious(0.03)	U3KPZ1_HUMAN,J3QRY0_HUMAN,G3V1R9_HUMAN			YES	ISYNA1,missense_variant,p.Val456Met,ENST00000338128,NM_001170938.1,NM_016368.4;ISYNA1,missense_variant,p.Val306Met,ENST00000545187,;ISYNA1,missense_variant,p.Val402Met,ENST00000457269,;ISYNA1,missense_variant,p.Val328Met,ENST00000578963,NM_001253389.1;ISYNA1,missense_variant,p.Val254Met,ENST00000317018,;ISYNA1,missense_variant,p.Val125Met,ENST00000581672,;SSBP4,downstream_gene_variant,,ENST00000270061,NM_032627.4;SSBP4,downstream_gene_variant,,ENST00000348495,NM_001009998.3;SSBP4,downstream_gene_variant,,ENST00000593641,;SSBP4,downstream_gene_variant,,ENST00000597724,;SSBP4,downstream_gene_variant,,ENST00000599699,;ISYNA1,downstream_gene_variant,,ENST00000583534,;ISYNA1,downstream_gene_variant,,ENST00000581800,;SSBP4,downstream_gene_variant,,ENST00000602088,;SSBP4,downstream_gene_variant,,ENST00000601357,;ISYNA1,downstream_gene_variant,,ENST00000578352,;SSBP4,downstream_gene_variant,,ENST00000598159,;SSBP4,downstream_gene_variant,,ENST00000600628,;ISYNA1,3_prime_UTR_variant,,ENST00000582811,;ISYNA1,3_prime_UTR_variant,,ENST00000582770,;ISYNA1,3_prime_UTR_variant,,ENST00000577820,;ISYNA1,non_coding_transcript_exon_variant,,ENST00000577916,;ISYNA1,non_coding_transcript_exon_variant,,ENST00000582287,;ISYNA1,downstream_gene_variant,,ENST00000583816,;SSBP4,downstream_gene_variant,,ENST00000601614,;SSBP4,downstream_gene_variant,,ENST00000600244,;SSBP4,downstream_gene_variant,,ENST00000607020,;SSBP4,downstream_gene_variant,,ENST00000601919,;SSBP4,downstream_gene_variant,,ENST00000601444,;ISYNA1,downstream_gene_variant,,ENST00000583309,;							MODERATE	1366/1677	V456M	INO1_HUMAN			Transcript		possibly_damaging(0.485)	common_variant	ENSP00000337746	9.06E-05	CCDS12379.1			1	
RPS6KA5	0	LGGM	GRCh37	14	91389485	91389485	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	18	10	.	.	ENST00000261991.3:c.674T>A	p.Val225Asp	p.V225D	ENST00000261991	NM_004755.2	225	gTc/gAc	0	1	1	UPI0000031C30	0	getma.org/pdb.php?prot=KS6A5_HUMAN&from=49&to=318&var=V225D	ENST00000261991		ENSG00000100784	10434		28	2.505		HGNC	p.V146D		RPS6KA5		SNV							ENST00000536315	protein_coding	getma.org/?cm=var&var=hg19,14,91389485,A,T&fts=all		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		V/D		T	medium	848/4202		getma.org/?cm=msa&ty=f&p=KS6A5_HUMAN&rb=49&re=318&var=V225D	deleterious(0)	Q9UG98_HUMAN,B7Z2Y5_HUMAN			YES	RPS6KA5,missense_variant,p.Val225Asp,ENST00000261991,NM_004755.2;RPS6KA5,missense_variant,p.Val146Asp,ENST00000536315,;RPS6KA5,missense_variant,p.Val225Asp,ENST00000418736,NM_182398.1;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;RPS6KA5,3_prime_UTR_variant,,ENST00000554206,;							MODERATE	674/2409	V225D	KS6A5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261991		CCDS9893.1			1	
C6orf57	0	LGGM	GRCh37	6	71298381	71298381	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	36	10	.	.	ENST00000370474.3:c.281C>G	p.Thr94Ser	p.T94S	ENST00000370474	NM_145267.2	94	aCc/aGc	0	1	1	UPI000013DD88	0	getma.org/pdb.php?prot=CF057_HUMAN&from=40&to=108&var=T94S	ENST00000370474		ENSG00000154079	20957		46	2.795		HGNC	p.T94S		C6orf57		SNV							ENST00000370474	protein_coding	getma.org/?cm=var&var=hg19,6,71298381,C,G&fts=all		Pfam_domain:PF07896		T/S		G	medium	305/1196		getma.org/?cm=msa&ty=f&p=CF057_HUMAN&rb=40&re=108&var=T94S	deleterious(0)				YES	C6orf57,missense_variant,p.Thr94Ser,ENST00000370474,NM_145267.2;							MODERATE	281/327	T94S	CF057_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359505		CCDS4972.1			1	
ZNF559	0	LGGM	GRCh37	19	9453319	9453319	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	10	.	.	ENST00000393883.2:c.1192A>C	p.Ser398Arg	p.S398R	ENST00000393883	NM_001202412.1	398	Agt/Cgt	0	1	1	UPI00000733B2	0	getma.org/pdb.php?prot=ZN559_HUMAN&from=395&to=420&var=S398R	ENST00000393883		ENSG00000188321	28197		42	-0.995		HGNC	p.S398R		ZNF559		SNV							ENST00000587557	protein_coding	getma.org/?cm=var&var=hg19,19,9453319,A,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF77,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/R		C	neutral	1840/3042		getma.org/?cm=msa&ty=f&p=ZN559_HUMAN&rb=375&re=440&var=S398R	tolerated(0.33)	S4R3F2_HUMAN,K7ERK9_HUMAN,B4DP29_HUMAN			YES	ZNF559,missense_variant,p.Ser398Arg,ENST00000393883,NM_001202412.1;ZNF559,missense_variant,p.Ser462Arg,ENST00000587557,NM_001202411.1,NM_001202409.1,NM_001202408.1,NM_001202406.1;ZNF559,missense_variant,p.Ser398Arg,ENST00000603380,;ZNF559,missense_variant,p.Ser384Arg,ENST00000605750,;ZNF559,missense_variant,p.Ser318Arg,ENST00000538743,;ZNF559,3_prime_UTR_variant,,ENST00000317221,NM_001202410.1,NM_032497.2;ZNF559-ZNF177,intron_variant,,ENST00000446085,;ZNF559-ZNF177,intron_variant,,ENST00000541595,NM_001172650.2;ZNF177,intron_variant,,ENST00000602738,;ZNF177,intron_variant,,ENST00000602856,NM_001202425.1;ZNF559,intron_variant,,ENST00000586255,;ZNF559-ZNF177,intron_variant,,ENST00000603656,;ZNF559,intron_variant,,ENST00000591652,;ZNF559,downstream_gene_variant,,ENST00000592896,;ZNF559,downstream_gene_variant,,ENST00000592504,;ZNF559,downstream_gene_variant,,ENST00000585352,;ZNF559,downstream_gene_variant,,ENST00000588124,;ZNF559,downstream_gene_variant,,ENST00000592298,;ZNF559,downstream_gene_variant,,ENST00000585377,;ZNF559,downstream_gene_variant,,ENST00000589208,;CTC-325H20.2,upstream_gene_variant,,ENST00000592371,;ZNF559-ZNF177,intron_variant,,ENST00000605471,;ZNF559-ZNF177,intron_variant,,ENST00000603099,;ZNF559-ZNF177,intron_variant,,ENST00000605301,;ZNF559-ZNF177,intron_variant,,ENST00000605522,;ZNF559-ZNF177,intron_variant,,ENST00000603974,;ZNF559-ZNF177,intron_variant,,ENST00000605071,;ZNF559-ZNF177,intron_variant,,ENST00000603024,;ZNF559-ZNF177,intron_variant,,ENST00000605775,;ZNF559-ZNF177,intron_variant,,ENST00000605006,;ZNF559-ZNF177,intron_variant,,ENST00000605093,;ZNF559-ZNF177,intron_variant,,ENST00000604886,;ZNF559-ZNF177,intron_variant,,ENST00000593242,;ZNF559-ZNF177,intron_variant,,ENST00000604543,;							MODERATE	1192/1617	S398R	ZN559_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000377461		CCDS12211.1			1	
TP53	0	LGGM	GRCh37	17	7577114	7577114	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	13	11	.	.	ENST00000269305.4:c.824G>T	p.Cys275Phe	p.C275F	ENST00000269305	NM_001126112.2	275	tGt/tTt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=C275F	ENST00000269305		ENSG00000141510	11998		24	3.34		HGNC	p.C275F	TP53_g.13804G>T,COSM10701,COSM99932,COSM3723938,COSM1637959	TP53		SNV			1			0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577114,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		C/F		A	medium	1014/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=C275F	deleterious(0)	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			YES	TP53,missense_variant,p.Cys275Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Cys275Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Cys275Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Cys275Phe,ENST00000445888,;TP53,missense_variant,p.Cys275Phe,ENST00000359597,;TP53,missense_variant,p.Cys143Phe,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,;					0,1,1,1,1		MODERATE	824/1182	C275F	P53_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000269305		CCDS11118.1			1	
CELF4	0	LGGM	GRCh37	18	34855089	34855089	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	24	12	.	.	ENST00000420428.2:c.566G>C	p.Gly189Ala	p.G189A	ENST00000420428	NM_020180.3	189	gGc/gCc	0	1	1	UPI00000726FC	0	getma.org/pdb.php?prot=CELF4_HUMAN&from=154&to=222&var=G189A	ENST00000420428		ENSG00000101489	14015		36	2.755		HGNC	p.G179A		CELF4		SNV							ENST00000334919	protein_coding	getma.org/?cm=var&var=hg19,18,34855089,C,G&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF181,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		G/A		G	medium	962/4052		getma.org/?cm=msa&ty=f&p=CELF4_HUMAN&rb=154&re=222&var=G189A	deleterious(0)	K7EJK3_HUMAN			YES	CELF4,missense_variant,p.Gly189Ala,ENST00000420428,NM_020180.3;CELF4,missense_variant,p.Gly189Ala,ENST00000412753,NM_001025088.1,NM_001025087.1;CELF4,missense_variant,p.Gly188Ala,ENST00000591287,;CELF4,missense_variant,p.Gly179Ala,ENST00000334919,NM_001025089.1;CELF4,missense_variant,p.Gly189Ala,ENST00000603232,;CELF4,missense_variant,p.Gly188Ala,ENST00000361795,;CELF4,missense_variant,p.Gly188Ala,ENST00000601019,;CELF4,missense_variant,p.Gly189Ala,ENST00000591282,;CELF4,missense_variant,p.Gly178Ala,ENST00000588597,;CELF4,missense_variant,p.Gly179Ala,ENST00000601392,;CELF4,missense_variant,p.Gly55Ala,ENST00000587819,;CELF4,missense_variant,p.Gly66Ala,ENST00000589229,;CELF4,missense_variant,p.Gly57Ala,ENST00000587924,;CELF4,upstream_gene_variant,,ENST00000588591,;CELF4,upstream_gene_variant,,ENST00000586009,;CELF4,upstream_gene_variant,,ENST00000589386,;CELF4,upstream_gene_variant,,ENST00000593271,;CELF4,upstream_gene_variant,,ENST00000587657,;RP11-797E24.3,intron_variant,,ENST00000586610,;RP11-797E24.3,intron_variant,,ENST00000588766,;CELF4,upstream_gene_variant,,ENST00000587074,;CELF4,missense_variant,p.Gly55Ala,ENST00000590112,;CELF4,upstream_gene_variant,,ENST00000591421,;							MODERATE	566/1461	G189A	CELF4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000410584		CCDS32818.1			1	
REV3L	0	LGGM	GRCh37	6	111636522	111636522	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	67	13	.	.	ENST00000358835.3:c.8414C>A	p.Ala2805Asp	p.A2805D	ENST00000358835		2805	gCc/gAc	0	1	1	UPI0000140023	0	getma.org/pdb.php?prot=DPOLZ_HUMAN&from=2558&to=3016&var=A2805D	ENST00000358835		ENSG00000009413	9968		80	3.77		HGNC	p.A2805D		REV3L		SNV							ENST00000358835	protein_coding	getma.org/?cm=var&var=hg19,6,111636522,G,T&fts=all		Superfamily_domains:SSF56672,Gene3D:2py5A02,Pfam_domain:PF00136,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		A/D		T	high	8869/10789		getma.org/?cm=msa&ty=f&p=DPOLZ_HUMAN&rb=2558&re=3016&var=A2805D	deleterious(0)	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,missense_variant,p.Ala2727Asp,ENST00000435970,NM_001286432.1;REV3L,missense_variant,p.Ala2805Asp,ENST00000358835,;REV3L,missense_variant,p.Ala2805Asp,ENST00000368802,NM_002912.3;REV3L,missense_variant,p.Ala2805Asp,ENST00000368805,;RP5-1112D6.8,downstream_gene_variant,,ENST00000607434,;REV3L,non_coding_transcript_exon_variant,,ENST00000462119,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							MODERATE	8414/9393	A2805D	DPOLZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351697		CCDS5091.2			1	
REV3L	0	LGGM	GRCh37	6	111636523	111636523	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	70	13	.	.	ENST00000358835.3:c.8413G>A	p.Ala2805Thr	p.A2805T	ENST00000358835		2805	Gcc/Acc	0	1	1	UPI0000140023	0	getma.org/pdb.php?prot=DPOLZ_HUMAN&from=2558&to=3016&var=A2805T	ENST00000358835		ENSG00000009413	9968		83	2.965		HGNC	p.A2805T		REV3L		SNV							ENST00000358835	protein_coding	getma.org/?cm=var&var=hg19,6,111636523,C,T&fts=all		Superfamily_domains:SSF56672,Gene3D:2py5A02,Pfam_domain:PF00136,hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		A/T		T	medium	8868/10789		getma.org/?cm=msa&ty=f&p=DPOLZ_HUMAN&rb=2558&re=3016&var=A2805T	deleterious(0)	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,missense_variant,p.Ala2727Thr,ENST00000435970,NM_001286432.1;REV3L,missense_variant,p.Ala2805Thr,ENST00000358835,;REV3L,missense_variant,p.Ala2805Thr,ENST00000368802,NM_002912.3;REV3L,missense_variant,p.Ala2805Thr,ENST00000368805,;RP5-1112D6.8,downstream_gene_variant,,ENST00000607434,;REV3L,non_coding_transcript_exon_variant,,ENST00000462119,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							MODERATE	8413/9393	A2805T	DPOLZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351697		CCDS5091.2			1	
LENG9	0	LGGM	GRCh37	19	54973316	54973316	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	39	13	.	.	ENST00000333834.4:c.1460G>A	p.Arg487Lys	p.R487K	ENST00000333834	NM_198988.1	487	aGg/aAg	0	1	1	UPI000059D7A2	0	NA	ENST00000333834		ENSG00000182909	16306		52	1.935		HGNC	p.R487K		LENG9		SNV							ENST00000333834	protein_coding	getma.org/?cm=var&var=hg19,19,54973316,C,T&fts=all		Gene3D:3.90.1140.10,Superfamily_domains:SSF55144		R/K		T	medium	1579/1914		getma.org/?cm=msa&ty=f&p=LENG9_HUMAN&rb=320&re=500&var=R487K	tolerated(0.07)				YES	LENG9,missense_variant,p.Arg487Lys,ENST00000333834,NM_198988.1;LENG8,downstream_gene_variant,,ENST00000431846,;LENG8,downstream_gene_variant,,ENST00000376526,;LENG8,downstream_gene_variant,,ENST00000326764,NM_052925.2;CDC42EP5,downstream_gene_variant,,ENST00000301200,NM_145057.2;LENG8,downstream_gene_variant,,ENST00000421200,;LENG8,downstream_gene_variant,,ENST00000376514,;							MODERATE	1460/1506	R487K	LENG9_HUMAN			Transcript		benign(0.135)	.	ENSP00000331647		CCDS12895.2			1	
XDH	0	LGGM	GRCh37	2	31602811	31602811	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	27	13	.	.	ENST00000379416.3:c.1164C>T	p.Thr388=	p.T388=	ENST00000379416	NM_000379.3	388	acC/acT	0	1	1	UPI0000036BC9	0		ENST00000379416		ENSG00000158125	12805		40			HGNC	p.T388T	rs780701871	XDH		SNV			1				ENST00000379416	protein_coding			Superfamily_domains:SSF56176,PIRSF_domain:PIRSF000127,TIGRFAM_domain:TIGR02963,Gene3D:3.30.465.10,Pfam_domain:PF00941,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908,PROSITE_profiles:PS51387		T		A		1213/5688				Q585T6_HUMAN			YES	XDH,synonymous_variant,p.=,ENST00000379416,NM_000379.3;XDH,downstream_gene_variant,,ENST00000491727,;XDH,downstream_gene_variant,,ENST00000476043,;							LOW	1164/4002		XDH_HUMAN			Transcript			.	ENSP00000368727		CCDS1775.1			1	
FASTKD5	0	LGGM	GRCh37	20	3128996	3128996	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	14	.	.	ENST00000380266.3:c.721A>G	p.Met241Val	p.M241V	ENST00000380266	NM_021826.4	241	Atg/Gtg	0	1	1	UPI000015F514	0	NA	ENST00000380266		ENSG00000215251	25790		42	-0.55		HGNC	p.M241V		FASTKD5		SNV							ENST00000380266	protein_coding	getma.org/?cm=var&var=hg19,20,3128996,T,C&fts=all		hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF30		M/V		C	neutral	1043/2874		getma.org/?cm=msa&ty=f&p=FAKD5_HUMAN&rb=201&re=400&var=M241V	deleterious(0.02)				YES	FASTKD5,missense_variant,p.Met241Val,ENST00000380266,NM_021826.4;UBOX5,intron_variant,,ENST00000217173,NM_001267584.1,NM_014948.3;UBOX5,intron_variant,,ENST00000348031,NM_199415.2;UBOX5,intron_variant,,ENST00000449731,;UBOX5-AS1,intron_variant,,ENST00000446537,;							MODERATE	721/2295	M241V	FAKD5_HUMAN			Transcript		benign(0)	.	ENSP00000369618		CCDS13048.1			1	
CNOT4	0	LGGM	GRCh37	7	135080564	135080564	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	34	14	.	.	ENST00000541284.1:c.951A>G	p.Ser317=	p.S317=	ENST00000541284	NM_001190849.1	317	tcA/tcG	0	1		UPI000020FB5C	0		ENST00000315544		ENSG00000080802	7880		48			HGNC	p.S314S		CNOT4		SNV							ENST00000428680	protein_coding			hmmpanther:PTHR12603:SF2,hmmpanther:PTHR12603		S		C		1231/4631								CNOT4,synonymous_variant,p.=,ENST00000428680,NM_001008225.2;CNOT4,synonymous_variant,p.=,ENST00000315544,NM_001190848.1;CNOT4,synonymous_variant,p.=,ENST00000541284,NM_001190849.1,NM_001190850.1;CNOT4,synonymous_variant,p.=,ENST00000451834,;CNOT4,synonymous_variant,p.=,ENST00000423368,NM_001190847.1,NM_013316.3;CNOT4,synonymous_variant,p.=,ENST00000361528,;CNOT4,synonymous_variant,p.=,ENST00000414802,;CNOT4,synonymous_variant,p.=,ENST00000356162,;							LOW	951/1728		CNOT4_HUMAN			Transcript			.	ENSP00000326731		CCDS55166.1			1	
ZNF135	0	LGGM	GRCh37	19	58578801	58578801	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	60	14	.	.	ENST00000401053.4:c.1021G>T	p.Glu341Ter	p.E341*	ENST00000401053	NM_001164529.1	341	Gag/Tag	0	1		UPI00001984EC	0	NA	ENST00000313434		ENSG00000176293	12919		74	0		HGNC	p.E329X		ZNF135		SNV							ENST00000359978	protein_coding	getma.org/?cm=var&var=hg19,19,58578801,G,T&fts=all		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		E/*		T	NA	1050/3025		NA		Q8N9M3_HUMAN				ZNF135,stop_gained,p.Glu275Ter,ENST00000506786,;ZNF135,stop_gained,p.Glu341Ter,ENST00000401053,NM_001164529.1,NM_007134.1;ZNF135,stop_gained,p.Glu317Ter,ENST00000313434,NM_003436.3;ZNF135,stop_gained,p.Glu329Ter,ENST00000511556,;ZNF135,stop_gained,p.Glu329Ter,ENST00000359978,NM_001164530.1;ZNF135,stop_gained,p.Glu317Ter,ENST00000439855,;RN7SL526P,upstream_gene_variant,,ENST00000469492,;ZNF135,intron_variant,,ENST00000515535,;							HIGH	949/1977	E317*	ZN135_HUMAN			Transcript			.	ENSP00000321406					1	
SLC30A7	0	LGGM	GRCh37	1	101372457	101372457	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	65	15	.	.	ENST00000370112.4:c.232A>G	p.Ile78Val	p.I78V	ENST00000370112	NM_133496.4	78	Att/Gtt	0	1		UPI0000050F45	0	NA	ENST00000357650		ENSG00000162695	19306		80	0.865		HGNC	p.I78V		SLC30A7		SNV							ENST00000370112	protein_coding	getma.org/?cm=var&var=hg19,1,101372457,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11562:SF13,hmmpanther:PTHR11562,TIGRFAM_domain:TIGR01297,Gene3D:3h90A01,Pfam_domain:PF01545,Superfamily_domains:0054606		I/V		G	low	241/1281		getma.org/?cm=msa&ty=f&p=ZNT7_HUMAN&rb=38&re=376&var=I78V	deleterious(0)					SLC30A7,missense_variant,p.Ile78Val,ENST00000370112,NM_133496.4,NM_001144884.1;SLC30A7,missense_variant,p.Ile78Val,ENST00000357650,;							MODERATE	232/1131	I78V	ZNT7_HUMAN			Transcript		benign(0.11)	.	ENSP00000350278		CCDS776.1			1	
FAM135A	0	LGGM	GRCh37	6	71235655	71235655	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	33	15	.	.	ENST00000418814.2:c.2868A>G	p.Lys956=	p.K956=	ENST00000418814	NM_001162529.1	956	aaA/aaG	0	1		UPI0000D61481	0		ENST00000370479		ENSG00000082269	21084		48			HGNC	p.K743K		FAM135A		SNV							ENST00000457062	protein_coding			hmmpanther:PTHR12482:SF12,hmmpanther:PTHR12482		K		G		2747/5676								FAM135A,synonymous_variant,p.=,ENST00000418814,NM_001162529.1,NM_001105531.2;FAM135A,synonymous_variant,p.=,ENST00000370479,;FAM135A,synonymous_variant,p.=,ENST00000457062,NM_020819.4;FAM135A,synonymous_variant,p.=,ENST00000505868,;FAM135A,synonymous_variant,p.=,ENST00000361499,;FAM135A,synonymous_variant,p.=,ENST00000505769,;FAM135A,downstream_gene_variant,,ENST00000515323,;FAM135A,3_prime_UTR_variant,,ENST00000194672,;FAM135A,downstream_gene_variant,,ENST00000393299,;							LOW	2229/3909		F135A_HUMAN			Transcript			.	ENSP00000359510		CCDS34481.1			1	
CAPZA2	0	LGGM	GRCh37	7	116550308	116550308	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	30	15	.	.	ENST00000361183.3:c.528A>G	p.Glu176=	p.E176=	ENST00000361183	NM_006136.2	176	gaA/gaG	0	1	1	UPI00001270FC	0		ENST00000361183		ENSG00000198898	1490		45			HGNC	p.M150V		CAPZA2		SNV							ENST00000458284	protein_coding			hmmpanther:PTHR10653:SF2,hmmpanther:PTHR10653,Pfam_domain:PF01267,Superfamily_domains:SSF90096,Prints_domain:PR00191		E		G		667/5182				A4D0V4_HUMAN			YES	CAPZA2,missense_variant,p.Met150Val,ENST00000458284,;CAPZA2,synonymous_variant,p.=,ENST00000361183,NM_006136.2;Y_RNA,upstream_gene_variant,,ENST00000516306,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000417431,;CAPZA2,3_prime_UTR_variant,,ENST00000426421,;CAPZA2,3_prime_UTR_variant,,ENST00000449080,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000465607,;CAPZA2,downstream_gene_variant,,ENST00000464669,;							LOW	528/861		CAZA2_HUMAN			Transcript			.	ENSP00000354947		CCDS5768.1			1	
PSMC1	0	LGGM	GRCh37	14	90734702	90734702	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	47	15	.	.	ENST00000261303.8:c.826G>C	p.Glu276Gln	p.E276Q	ENST00000261303	NM_002802.2	276	Gaa/Caa	0	1	1	UPI00000041A5	0	getma.org/pdb.php?prot=PRS4_HUMAN&from=222&to=355&var=E276Q	ENST00000261303		ENSG00000100764	9547		62	0.82		HGNC	p.E276Q		PSMC1		SNV							ENST00000261303	protein_coding	getma.org/?cm=var&var=hg19,14,90734702,G,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23073:SF9,hmmpanther:PTHR23073		E/Q		C	low	929/1641		getma.org/?cm=msa&ty=f&p=PRS4_HUMAN&rb=222&re=355&var=E276Q	tolerated(0.06)	Q53XL8_HUMAN,G3V4X1_HUMAN,B4DR63_HUMAN			YES	PSMC1,missense_variant,p.Glu276Gln,ENST00000261303,NM_002802.2;PSMC1,missense_variant,p.Glu203Gln,ENST00000543772,;PSMC1,downstream_gene_variant,,ENST00000553835,;PSMC1,non_coding_transcript_exon_variant,,ENST00000555787,;PSMC1,downstream_gene_variant,,ENST00000555679,;PSMC1,downstream_gene_variant,,ENST00000557357,;PSMC1,downstream_gene_variant,,ENST00000554624,;							MODERATE	826/1323	E276Q	PRS4_HUMAN			Transcript		benign(0.193)	.	ENSP00000261303		CCDS32139.1			1	
CYP4F12	0	LGGM	GRCh37	19	15795985	15795985	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	15	.	.	ENST00000550308.1:c.1093C>G	p.Arg365Gly	p.R365G	ENST00000550308	NM_023944.3	365	Cgc/Ggc	0	1	1	UPI000013D3F9	0	getma.org/pdb.php?prot=CP4FC_HUMAN&from=52&to=515&var=R365G	ENST00000550308		ENSG00000186204	18857	0.000346	56	1.365		HGNC	p.R365G	rs772148676	CYP4F12		SNV							ENST00000550308	protein_coding	getma.org/?cm=var&var=hg19,19,15795985,C,G&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF72,Superfamily_domains:SSF48264		R/G		G	low	1473/2044	1.50E-05	getma.org/?cm=msa&ty=f&p=CP4FC_HUMAN&rb=52&re=515&var=R365G	deleterious(0)				YES	CYP4F12,missense_variant,p.Arg365Gly,ENST00000550308,NM_023944.3;CYP4F12,missense_variant,p.Arg365Gly,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,;							MODERATE	1093/1575	R365G	CP4FC_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000448998	4.12E-05	CCDS42517.1			1	
ERBB4	0	LGGM	GRCh37	2	212495287	212495287	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	67	16	.	.	ENST00000342788.4:c.1979G>T	p.Gly660Val	p.G660V	ENST00000342788	NM_005235.2	660	gGg/gTg	0	1	1	UPI00000499DF	0	getma.org/pdb.php?prot=ERBB4_HUMAN&from=479&to=678&var=G660V	ENST00000342788		ENSG00000178568	3432		83	1.775		HGNC	p.G660V		ERBB4		SNV			1				ENST00000342788	protein_coding	getma.org/?cm=var&var=hg19,2,212495287,C,A&fts=all		PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,Transmembrane_helices:TMhelix		G/V		A	low	2290/12132		getma.org/?cm=msa&ty=f&p=ERBB4_HUMAN&rb=479&re=678&var=G660V	tolerated(0.21)	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,missense_variant,p.Gly660Val,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Gly660Val,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Gly650Val,ENST00000402597,;ERBB4,missense_variant,p.Gly650Val,ENST00000260943,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;							MODERATE	1979/3927	G660V	ERBB4_HUMAN			Transcript		benign(0.259)	.	ENSP00000342235		CCDS2394.1			1	
MAD2L1BP	0	LGGM	GRCh37	6	43604280	43604280	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	54	16	.	.	ENST00000451025.2:c.305G>C	p.Cys102Ser	p.C102S	ENST00000451025	NM_001003690.1	102	tGt/tCt	0	1		UPI0000000C4A	0	getma.org/pdb.php?prot=MD2BP_HUMAN&from=10&to=274&var=C70S	ENST00000372171		ENSG00000124688	21059		70	1.1		HGNC	p.C70S		MAD2L1BP		SNV							ENST00000372171	protein_coding	getma.org/?cm=var&var=hg19,6,43604280,G,C&fts=all		Pfam_domain:PF06581,hmmpanther:PTHR15681,hmmpanther:PTHR15681:SF1		C/S		C	low	266/1301		getma.org/?cm=msa&ty=f&p=MD2BP_HUMAN&rb=10&re=274&var=C70S	tolerated(0.08)					MAD2L1BP,missense_variant,p.Cys102Ser,ENST00000451025,NM_001003690.1;MAD2L1BP,missense_variant,p.Cys70Ser,ENST00000372171,NM_014628.2;MAD2L1BP,non_coding_transcript_exon_variant,,ENST00000508232,;							MODERATE	209/825	C70S	MD2BP_HUMAN			Transcript		benign(0.053)	.	ENSP00000361244		CCDS4904.1			1	
KLHL32	0	LGGM	GRCh37	6	97533150	97533150	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	38	16	.	.	ENST00000369261.4:c.560A>G	p.Tyr187Cys	p.Y187C	ENST00000369261	NM_052904.3	187	tAt/tGt	0	1	1	UPI000020DFAB	0	getma.org/pdb.php?prot=KLH32_HUMAN&from=144&to=245&var=Y187C	ENST00000369261		ENSG00000186231	21221		54	1.295		HGNC	p.Y187C	rs777791290	KLHL32		SNV				9.63E-05			ENST00000369261	protein_coding	getma.org/?cm=var&var=hg19,6,97533150,A,G&fts=all		Pfam_domain:PF07707,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF65,SMART_domains:SM00875		Y/C		G	low	923/3698		getma.org/?cm=msa&ty=f&p=KLH32_HUMAN&rb=144&re=245&var=Y187C	tolerated(0.11)				YES	KLHL32,missense_variant,p.Tyr187Cys,ENST00000369261,NM_052904.3;KLHL32,missense_variant,p.Tyr151Cys,ENST00000536676,NM_001286250.1;KLHL32,missense_variant,p.Tyr118Cys,ENST00000539200,NM_001286251.1;KLHL32,missense_variant,p.Tyr83Cys,ENST00000447886,;KLHL32,intron_variant,,ENST00000544166,;KLHL32,intron_variant,,ENST00000369254,;							MODERATE	560/1863	Y187C	KLH32_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000358265	8.24E-06	CCDS5038.1			1	
ERAP2	0	LGGM	GRCh37	5	96225003	96225003	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	58	16	.	.	ENST00000437043.3:c.964A>C	p.Lys322Gln	p.K322Q	ENST00000437043	NM_001130140.1	322	Aaa/Caa	0	1	1	UPI0000036336	0	getma.org/pdb.php?prot=ERAP2_HUMAN&from=68&to=458&var=K322Q	ENST00000437043		ENSG00000164308	29499		74	2.85		HGNC	p.K277Q		ERAP2		SNV							ENST00000379904	protein_coding	getma.org/?cm=var&var=hg19,5,96225003,A,C&fts=all		hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Pfam_domain:PF01433,Superfamily_domains:SSF55486		K/Q		C	medium	1675/5705		getma.org/?cm=msa&ty=f&p=ERAP2_HUMAN&rb=68&re=458&var=K322Q	deleterious(0)	D6RGW0_HUMAN			YES	ERAP2,missense_variant,p.Lys322Gln,ENST00000437043,NM_001130140.1,NM_022350.3;ERAP2,missense_variant,p.Lys277Gln,ENST00000379904,;ERAP2,missense_variant,p.Lys322Gln,ENST00000510373,;ERAP2,missense_variant,p.Lys322Gln,ENST00000510309,;ERAP2,missense_variant,p.Lys29Gln,ENST00000508077,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,upstream_gene_variant,,ENST00000515095,;ERAP2,missense_variant,p.Lys322Gln,ENST00000513084,;							MODERATE	964/2883	K322Q	ERAP2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000400376		CCDS4086.1			1	
RXRA	0	LGGM	GRCh37	9	137328360	137328360	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	28	16	.	.	ENST00000481739.1:c.1289T>A	p.Leu430His	p.L430H	ENST00000481739	NM_002957.4	430	cTc/cAc	0	1	1	UPI0000042A9A	0	getma.org/pdb.php?prot=RXRA_HUMAN&from=251&to=442&var=L430H	ENST00000481739		ENSG00000186350	10477		44	3.355		HGNC	p.L333H		RXRA		SNV							ENST00000540193	protein_coding	getma.org/?cm=var&var=hg19,9,137328360,T,A&fts=all		Prints_domain:PR00398,Superfamily_domains:SSF48508,Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF39		L/H		A	medium	1341/1846		getma.org/?cm=msa&ty=f&p=RXRA_HUMAN&rb=251&re=442&var=L430H	deleterious(0)	Q6P3U7_HUMAN,F1D8Q5_HUMAN,B3KY83_HUMAN			YES	RXRA,missense_variant,p.Leu333His,ENST00000540193,;RXRA,missense_variant,p.Leu430His,ENST00000481739,NM_002957.4;RXRA,non_coding_transcript_exon_variant,,ENST00000356384,;							MODERATE	1289/1389	L430H	RXRA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000419692		CCDS35172.1			1	
PCDH15	0	LGGM	GRCh37	10	55583042	55583042	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	32	17	.	.	ENST00000361849.3:c.4450G>T	p.Val1484Leu	p.V1484L	ENST00000361849	NM_001142768.1	1484	Gtg/Ttg	0	1		UPI000014083E	0	NA	ENST00000320301		ENSG00000150275	14674		49	1.39		HGNC	p.V1413L		PCDH15		SNV			1				ENST00000437009	protein_coding	getma.org/?cm=var&var=hg19,10,55583042,C,A&fts=all				V/L		A	low	4839/6845		getma.org/?cm=msa&ty=f&p=PCD15_HUMAN&rb=1444&re=1643&var=V1482L	tolerated_low_confidence(0.86)	A2A3D9_HUMAN				PCDH15,missense_variant,p.Val1484Leu,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,missense_variant,p.Val1442Leu,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Val1459Leu,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Val1482Leu,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Val1479Leu,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Val1413Leu,ENST00000437009,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000395438,NM_001142770.1;PCDH15,intron_variant,,ENST00000395445,NM_001142769.1;PCDH15,intron_variant,,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,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;							MODERATE	4444/5868	V1482L	PCD15_HUMAN			Transcript		benign(0.001)	.	ENSP00000322604		CCDS7248.1			1	
NTN4	0	LGGM	GRCh37	12	96181136	96181136	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	30	17	.	.	ENST00000343702.4:c.166A>C	p.Asn56His	p.N56H	ENST00000343702	NM_021229.3	56	Aat/Cat	0	1	1	UPI0000049824	0	getma.org/pdb.php?prot=NET4_HUMAN&from=34&to=260&var=N56H	ENST00000343702		ENSG00000074527	13658		47	1.085		HGNC	p.N56H		NTN4		SNV							ENST00000343702	protein_coding	getma.org/?cm=var&var=hg19,12,96181136,T,G&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260,SMART_domains:SM00136		N/H		G	low	615/3615		getma.org/?cm=msa&ty=f&p=NET4_HUMAN&rb=34&re=260&var=N56H	tolerated(0.13)	F8W0I7_HUMAN			YES	NTN4,missense_variant,p.Asn56His,ENST00000343702,NM_021229.3;NTN4,missense_variant,p.Asn19His,ENST00000344911,;NTN4,missense_variant,p.Asn19His,ENST00000538383,;NTN4,missense_variant,p.Asn56His,ENST00000553059,;NTN4,missense_variant,p.Asn19His,ENST00000547980,;							MODERATE	166/1887	N56H	NET4_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000340998		CCDS9054.1			1	
OR2T6	0	LGGM	GRCh37	1	248551680	248551680	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	53	17	.	.	ENST00000355728.2:c.771T>C	p.Tyr257=	p.Y257=	ENST00000355728	NM_001005471.1	257	taT/taC	0	1	1	UPI0000199147	0		ENST00000355728		ENSG00000198104	15018		70			HGNC	p.Y257Y		OR2T6		SNV							ENST00000355728	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		Y		C		771/927							YES	OR2T6,synonymous_variant,p.=,ENST00000355728,NM_001005471.1;							LOW	771/927		OR2T6_HUMAN			Transcript			.	ENSP00000347965		CCDS31114.1			1	
LRRC37A	0	LGGM	GRCh37	17	44408259	44408259	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	14	18	.	.	ENST00000320254.5:c.3616C>A	p.Leu1206Ile	p.L1206I	ENST00000320254	NM_014834.4	1206	Ctc/Atc	0	1	1	UPI0001AE66EC	0	NA	ENST00000320254		ENSG00000176681	29069		32	1.975		HGNC	p.L1206I		LRRC37A		SNV							ENST00000320254	protein_coding	getma.org/?cm=var&var=hg19,17,44408259,C,A&fts=all		hmmpanther:PTHR23045		L/I		A	medium	3619/5177		getma.org/?cm=msa&ty=f&p=L37A1_HUMAN&rb=977&re=1698&var=L1206I	deleterious(0.02)	E9PP10_HUMAN			YES	LRRC37A,missense_variant,p.Leu1206Ile,ENST00000320254,NM_014834.4;LRRC37A,missense_variant,p.Leu1206Ile,ENST00000393465,;LRRC37A,missense_variant,p.Leu244Ile,ENST00000496930,;ARL17B,intron_variant,,ENST00000570618,;ARL17B,intron_variant,,ENST00000434041,;ARL17B,intron_variant,,ENST00000575960,;ARL17B,intron_variant,,ENST00000575698,;ARL17B,downstream_gene_variant,,ENST00000571246,;ARL17B,intron_variant,,ENST00000572991,;							MODERATE	3616/5103	L1206I	L37A1_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000326324		CCDS11504.2			1	
C8orf76	0	LGGM	GRCh37	8	124243630	124243630	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091794	H091794N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	65	18	.	.	ENST00000276704.4:c.725T>A	p.Leu242Gln	p.L242Q	ENST00000276704	NM_032847.2	242	cTg/cAg	0	1	1	UPI000006E851	0	NA	ENST00000276704		ENSG00000189376	25924		83	1.5		HGNC	p.L242Q	rs760420077	C8orf76		SNV							ENST00000276704	protein_coding	getma.org/?cm=var&var=hg19,8,124243630,A,T&fts=all		hmmpanther:PTHR31919,hmmpanther:PTHR31919:SF1		L/Q		T	low	777/1342		getma.org/?cm=msa&ty=f&p=ZHX1R_HUMAN&rb=201&re=292&var=L210Q	tolerated(0.34)				YES	C8orf76,missense_variant,p.Leu242Gln,ENST00000276704,NM_032847.2;ZHX1-C8ORF76,missense_variant,p.Leu210Gln,ENST00000357082,NM_001204180.1;C8orf76,non_coding_transcript_exon_variant,,ENST00000521310,;C8orf76,non_coding_transcript_exon_variant,,ENST00000517760,;C8orf76,intron_variant,,ENST00000519791,;C8orf76,downstream_gene_variant,,ENST00000518996,;							MODERATE	725/1143	L210Q	CH076_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000276704		CCDS6341.1			1	
EPHA6	0	LGGM	GRCh37	3	97124029	97124029	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	57	19	.	.	ENST00000389672.5:c.1642G>T	p.Ala548Ser	p.A548S	ENST00000389672	NM_001080448.2	548	Gca/Tca	0	1	1	UPI000004BB12	0	getma.org/pdb.php?prot=EPHA6_HUMAN&from=441&to=526&var=A453S	ENST00000389672		ENSG00000080224	19296		76	1.22		HGNC	p.A548S	COSM320155,COSM320154	EPHA6		SNV						1,1	ENST00000389672	protein_coding	getma.org/?cm=var&var=hg19,3,97124029,G,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/S		T	low	1680/3971		getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=441&re=526&var=A453S	tolerated(0.54)	H0Y8K5_HUMAN			YES	EPHA6,missense_variant,p.Ala548Ser,ENST00000389672,NM_001080448.2;					1,1		MODERATE	1642/3393	A453S				Transcript		probably_damaging(0.952)	.	ENSP00000374323		CCDS46876.1			1	
GOLGB1	0	LGGM	GRCh37	3	121411286	121411286	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	47	20	.	.	ENST00000393667.3:c.6925C>T	p.Gln2309Ter	p.Q2309*	ENST00000393667	NM_001256486.1	2309	Cag/Tag	0	1		UPI000013F0A1	0	NA	ENST00000340645		ENSG00000173230	4429		67	0		HGNC	p.Q2309X		GOLGB1		SNV							ENST00000393667	protein_coding	getma.org/?cm=var&var=hg19,3,121411286,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18887:SF2,hmmpanther:PTHR18887,SMART_domains:SM00340		Q/*		A	NA	7036/11187		NA		C9J8Q0_HUMAN				GOLGB1,stop_gained,p.Gln2309Ter,ENST00000393667,NM_001256486.1;GOLGB1,stop_gained,p.Gln2304Ter,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,;							HIGH	6910/9780	Q2304*	GOGB1_HUMAN			Transcript			.	ENSP00000341848		CCDS3004.1			1	
LUZP1	0	LGGM	GRCh37	1	23417986	23417986	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	66	20	.	.	ENST00000302291.4:c.2769C>G	p.Ala923=	p.A923=	ENST00000302291		923	gcC/gcG	0	1	1	UPI000020466A	0		ENST00000302291		ENSG00000169641	14985		86			HGNC	p.A923A		LUZP1		SNV							ENST00000314174	protein_coding			hmmpanther:PTHR23166:SF7,hmmpanther:PTHR23166		A		C		3571/8898				E5RHU7_HUMAN,E5RFK8_HUMAN			YES	LUZP1,synonymous_variant,p.=,ENST00000302291,;LUZP1,synonymous_variant,p.=,ENST00000418342,NM_001142546.1,NM_033631.3;LUZP1,synonymous_variant,p.=,ENST00000374623,NM_033631.3;LUZP1,synonymous_variant,p.=,ENST00000314174,;LUZP1,downstream_gene_variant,,ENST00000471849,;LUZP1,downstream_gene_variant,,ENST00000475164,;RP1-184J9.2,upstream_gene_variant,,ENST00000427154,;							LOW	2769/3231		LUZP1_HUMAN			Transcript			.	ENSP00000303758		CCDS30628.1			1	
KRTAP4-4	0	LGGM	GRCh37	17	39316846	39316846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	57	21	.	.	ENST00000390661.3:c.98C>T	p.Thr33Ile	p.T33I	ENST00000390661	NM_032524.1	33	aCc/aTc	0	1	1	UPI000006DEC1	0	NA	ENST00000390661		ENSG00000171396	16928		78	3.305		HGNC	p.T33I		KRTAP4-4		SNV							ENST00000390661	protein_coding	getma.org/?cm=var&var=hg19,17,39316846,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262,Pfam_domain:PF13885		T/I		A	medium	138/1074		getma.org/?cm=msa&ty=f&p=KRA44_HUMAN&rb=30&re=74&var=T33I					YES	KRTAP4-4,missense_variant,p.Thr33Ile,ENST00000390661,NM_032524.1;							MODERATE	98/501	T33I	KRA44_HUMAN			Transcript		unknown(0)	.	ENSP00000375076		CCDS11383.1			1	
PVRL4	0	LGGM	GRCh37	1	161044160	161044160	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	76	23	.	.	ENST00000368012.3:c.1004C>A	p.Pro335His	p.P335H	ENST00000368012	NM_030916.2	335	cCc/cAc	0	1	1	UPI000006F072	0	NA	ENST00000368012		ENSG00000143217	19688		99	0		HGNC	p.P69H		PVRL4		SNV			1				ENST00000453926	protein_coding	getma.org/?cm=var&var=hg19,1,161044160,G,T&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF11		P/H		T	neutral	1307/3502		getma.org/?cm=msa&ty=f&p=PVRL4_HUMAN&rb=318&re=510&var=P335H	tolerated(0.21)	K4PZ75_HUMAN			YES	PVRL4,missense_variant,p.Pro335His,ENST00000368012,NM_030916.2;PVRL4,missense_variant,p.Pro69His,ENST00000453926,;ARHGAP30,upstream_gene_variant,,ENST00000368013,NM_181720.2,NM_001025598.1;ARHGAP30,upstream_gene_variant,,ENST00000368015,NM_001287602.1;ARHGAP30,upstream_gene_variant,,ENST00000368016,;PVRL4,upstream_gene_variant,,ENST00000486694,;ARHGAP30,upstream_gene_variant,,ENST00000461003,;ARHGAP30,upstream_gene_variant,,ENST00000490279,;ARHGAP30,upstream_gene_variant,,ENST00000368018,;ARHGAP30,upstream_gene_variant,,ENST00000471492,;							MODERATE	1004/1533	P335H	PVRL4_HUMAN			Transcript		benign(0.345)	.	ENSP00000356991		CCDS1216.1			1	
IFI44	0	LGGM	GRCh37	1	79120767	79120767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	58	23	.	.	ENST00000370747.4:c.563G>A	p.Arg188Gln	p.R188Q	ENST00000370747	NM_006417.4	188	cGa/cAa	0	1	1	UPI000013D0E5	0	NA	ENST00000370747		ENSG00000137965	16938		81	1.775		HGNC	p.R64Q	COSM196813	IFI44		SNV						1	ENST00000438486	protein_coding	getma.org/?cm=var&var=hg19,1,79120767,G,A&fts=all		hmmpanther:PTHR14241:SF3,hmmpanther:PTHR14241,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		R/Q		A	low	648/1687		getma.org/?cm=msa&ty=f&p=IFI44_HUMAN&rb=153&re=352&var=R188Q	deleterious(0.02)	C9JUM8_HUMAN			YES	IFI44,missense_variant,p.Arg188Gln,ENST00000370747,NM_006417.4;IFI44,missense_variant,p.Arg64Gln,ENST00000438486,;IFI44,5_prime_UTR_variant,,ENST00000545124,;IFI44,non_coding_transcript_exon_variant,,ENST00000495254,;IFI44,non_coding_transcript_exon_variant,,ENST00000467790,;IFI44,non_coding_transcript_exon_variant,,ENST00000472152,;IFI44,non_coding_transcript_exon_variant,,ENST00000470323,;IFI44,upstream_gene_variant,,ENST00000485662,;					1		MODERATE	563/1335	R188Q	IFI44_HUMAN			Transcript		possibly_damaging(0.554)	.	ENSP00000359783		CCDS688.1			1	
STIL	0	LGGM	GRCh37	1	47726126	47726126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	61	23	.	.	ENST00000371877.3:c.2915C>T	p.Thr972Ile	p.T972I	ENST00000371877		972	aCc/aTc	0	1		UPI0000470133	0	NA	ENST00000360380		ENSG00000123473	10879		84	1.87		HGNC	p.T907I		STIL		SNV			1				ENST00000447475	protein_coding	getma.org/?cm=var&var=hg19,1,47726126,G,A&fts=all		hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128		T/I		A	low	3276/5225		getma.org/?cm=msa&ty=f&p=STIL_HUMAN&rb=699&re=973&var=T971I	tolerated(0.08)	Q5T0D0_HUMAN				STIL,missense_variant,p.Thr971Ile,ENST00000360380,NM_001282936.1;STIL,missense_variant,p.Thr971Ile,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,missense_variant,p.Thr972Ile,ENST00000371877,;STIL,missense_variant,p.Thr971Ile,ENST00000243182,;STIL,missense_variant,p.Thr954Ile,ENST00000396221,NM_001282937.1;STIL,missense_variant,p.Thr907Ile,ENST00000447475,;STIL,non_coding_transcript_exon_variant,,ENST00000418131,;							MODERATE	2912/3864	T971I	STIL_HUMAN			Transcript		benign(0.16)	.	ENSP00000353544		CCDS548.1			1	
PCNT	0	LGGM	GRCh37	21	47836467	47836467	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	41	25	.	.	ENST00000359568.5:c.6635G>T	p.Arg2212Leu	p.R2212L	ENST00000359568	NM_006031.5	2212	cGg/cTg	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		66	0		HGNC	p.R2212L	rs201503338	PCNT		SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47836467,G,T&fts=all	A:0	hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		R/L		T	neutral	6742/10560	1.54E-05	getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=2091&re=2579&var=R2212L			A:0	A:0.001	YES	PCNT,missense_variant,p.Arg2212Leu,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;RPL18AP2,downstream_gene_variant,,ENST00000450007,;		A:0.0002					MODERATE	6635/10011	R2212L	PCNT_HUMAN		A:0	Transcript		benign(0.019)	.	ENSP00000352572	8.24E-06	CCDS33592.1		A:0	1	
WDR37	0	LGGM	GRCh37	10	1142109	1142109	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	59	26	.	.	ENST00000358220.1:c.650-1G>T		p.X217_splice	ENST00000358220				0	1		UPI000013D3B7	0		ENST00000263150		ENSG00000047056	31406		85			HGNC	-		WDR37		SNV							ENST00000358220	protein_coding							T		-/4462				A8K976_HUMAN				WDR37,splice_acceptor_variant,,ENST00000358220,;WDR37,splice_acceptor_variant,,ENST00000263150,NM_014023.3;WDR37,splice_acceptor_variant,,ENST00000381329,;WDR37,splice_acceptor_variant,,ENST00000436154,;							HIGH	650/1485		WDR37_HUMAN			Transcript			.	ENSP00000263150		CCDS7057.1			1	
SIGLEC8	0	LGGM	GRCh37	19	51961595	51961595	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	55	27	.	.	ENST00000321424.3:c.47G>T	p.Gly16Val	p.G16V	ENST00000321424	NM_014442.2	16	gGg/gTg	0	1	1	UPI000013598B	0	NA	ENST00000321424		ENSG00000105366	10877		82	0.345		HGNC	p.G16V		SIGLEC8		SNV							ENST00000340550	protein_coding	getma.org/?cm=var&var=hg19,19,51961595,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36		G/V		A	neutral	114/2949		getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=1&re=56&var=G16V	deleterious(0.02)				YES	SIGLEC8,missense_variant,p.Gly16Val,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Gly16Val,ENST00000430817,;SIGLEC8,missense_variant,p.Gly16Val,ENST00000340550,;SIGLEC8,upstream_gene_variant,,ENST00000597352,;							MODERATE	47/1500	G16V	SIGL8_HUMAN			Transcript		benign(0.143)	.	ENSP00000321077		CCDS33086.1			1	
IGLV1-36	0	LGGM	GRCh37	22	22786628	22786628	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	79	30	.	.	ENST00000390301.2:c.178C>A	p.Pro60Thr	p.P60T	ENST00000390301		60	Cca/Aca	0	1	1	UPI000011717F	0		ENST00000390301		ENSG00000211655	5876		109			HGNC	p.P60T		IGLV1-36		SNV							ENST00000390301	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF116,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		P/T		A		218/392			tolerated_low_confidence(0.05)	Q5NV70_HUMAN			YES	IGLV1-36,missense_variant,p.Pro60Thr,ENST00000390301,;IGLV5-37,downstream_gene_variant,,ENST00000390300,;							MODERATE	178/352					Transcript		benign(0.436)	.	ENSP00000374836					1	
CBLL1	0	LGGM	GRCh37	7	107398804	107398804	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091794	H091794N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	150	34	.	.	ENST00000440859.3:c.657T>C	p.Arg219=	p.R219=	ENST00000440859	NM_024814.2	219	cgT/cgC	0	1	1	UPI000006E5AC	0		ENST00000440859		ENSG00000105879	21225		184			HGNC	p.R218R		CBLL1		SNV							ENST00000222597	protein_coding			hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF2		R		C		1124/4432				C9J2P9_HUMAN,B4DDV7_HUMAN			YES	CBLL1,synonymous_variant,p.=,ENST00000440859,NM_024814.2;CBLL1,synonymous_variant,p.=,ENST00000222597,NM_001284291.1;CBLL1,synonymous_variant,p.=,ENST00000420796,;CBLL1,3_prime_UTR_variant,,ENST00000415884,;CBLL1,downstream_gene_variant,,ENST00000493361,;CBLL1,downstream_gene_variant,,ENST00000432748,;CBLL1,downstream_gene_variant,,ENST00000487517,;							LOW	657/1476		HAKAI_HUMAN			Transcript			.	ENSP00000401277		CCDS5747.1			1	
KIAA1211	0	LGGM	GRCh37	4	57179475	57179475	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	53	37	.	.	ENST00000504228.1:c.467C>T	p.Ala156Val	p.A156V	ENST00000504228		156	gCc/gTc	0	1		UPI0000237309	0	NA	ENST00000264229		ENSG00000109265	29219		90	2.585		HGNC	p.A156V		KIAA1211		SNV							ENST00000264229	protein_coding	getma.org/?cm=var&var=hg19,4,57179475,C,T&fts=all		Pfam_domain:PF15262,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		A/V		T	medium	858/4109		getma.org/?cm=msa&ty=f&p=K1211_HUMAN&rb=1&re=303&var=A156V	deleterious(0)					KIAA1211,missense_variant,p.Ala156Val,ENST00000504228,;KIAA1211,missense_variant,p.Ala149Val,ENST00000541073,;KIAA1211,missense_variant,p.Ala156Val,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;							MODERATE	467/3702	A156V	K1211_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264229		CCDS43230.1			1	
BCL9	0	LGGM	GRCh37	1	147092486	147092486	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	45	41	.	.	ENST00000234739.3:c.2525G>T	p.Gly842Val	p.G842V	ENST00000234739	NM_004326.3	842	gGg/gTg	0	1	1	UPI000013C9B9	0	NA	ENST00000234739		ENSG00000116128	1008		86	0.345		HGNC	p.G842V		BCL9		SNV							ENST00000234739	protein_coding	getma.org/?cm=var&var=hg19,1,147092486,G,T&fts=all		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5		G/V		T	neutral	3265/6278		getma.org/?cm=msa&ty=f&p=BCL9_HUMAN&rb=790&re=989&var=G842V	deleterious(0)				YES	BCL9,missense_variant,p.Gly842Val,ENST00000234739,NM_004326.3;BCL9,downstream_gene_variant,,ENST00000473292,;							MODERATE	2525/4281	G842V	BCL9_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000234739		CCDS30833.1			1	
OR1L1	0	LGGM	GRCh37	9	125424492	125424492	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091794	H091794N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	97	47	.	.	ENST00000309623.1:c.498C>A	p.Leu166=	p.L166=	ENST00000309623	NM_001005236.3	166	ctC/ctA	0	1		UPI0000D61902	0		ENST00000373686		ENSG00000173679	8213		144			HGNC	p.L216L		OR1L1		SNV							ENST00000373686	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF39,Superfamily_domains:SSF81321		L		A		648/1083								OR1L1,synonymous_variant,p.=,ENST00000373686,;OR1L1,synonymous_variant,p.=,ENST00000309623,NM_001005236.3;							LOW	648/1083		OR1L1_HUMAN			Transcript			.	ENSP00000362790					1	
SPATA31A3	0	LGGM	GRCh37	9	40705621	40705621	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091794	H091794N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091794N.bam, H091794T.bam	Illumina HiSeq	103	66	.	.	ENST00000356699.5:c.3278G>T	p.Cys1093Phe	p.C1093F	ENST00000356699	NM_001083124.1	1093	tGt/tTt	0	1	1	UPI00004588FC	0	NA	ENST00000356699		ENSG00000147926	32003		169	1.5		HGNC	p.C1093F		SPATA31A3		SNV							ENST00000356699	protein_coding	getma.org/?cm=var&var=hg19,9,40705621,G,T&fts=all		hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859		C/F		T	low	3307/4223		getma.org/?cm=msa&ty=f&p=F75A3_HUMAN&rb=1&re=1345&var=C1093F	tolerated(0.17)				YES	SPATA31A3,missense_variant,p.Cys1093Phe,ENST00000356699,NM_001083124.1;RP11-395E19.5,non_coding_transcript_exon_variant,,ENST00000432614,;SPATA31A3,downstream_gene_variant,,ENST00000463536,;							MODERATE	3278/4044	C1093F	S31A3_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000349132		CCDS47969.1			1	
EIF2AK3	0	LGGM	GRCh37	2	88876221	88876221	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	44	3	.	.	ENST00000303236.3:c.1887G>T	p.Arg629Ser	p.R629S	ENST00000303236	NM_004836.5	629	agG/agT	0	1	1	UPI000013E87D	0	getma.org/pdb.php?prot=E2AK3_HUMAN&from=593&to=676&var=R629S	ENST00000303236		ENSG00000172071	3255		47	0.23		HGNC	p.R508S		EIF2AK3		SNV			1				ENST00000415570	protein_coding	getma.org/?cm=var&var=hg19,2,88876221,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF38,PROSITE_profiles:PS50011		R/S		A	neutral	2189/4646		getma.org/?cm=msa&ty=f&p=E2AK3_HUMAN&rb=593&re=676&var=R629S	deleterious(0)	E7ER02_HUMAN			YES	EIF2AK3,missense_variant,p.Arg629Ser,ENST00000303236,NM_004836.5;EIF2AK3,missense_variant,p.Arg478Ser,ENST00000419748,;EIF2AK3,missense_variant,p.Arg508Ser,ENST00000415570,;AC104134.2,downstream_gene_variant,,ENST00000413234,;EIF2AK3,upstream_gene_variant,,ENST00000470706,;EIF2AK3,splice_region_variant,,ENST00000478003,;							MODERATE	1887/3351	R629S	E2AK3_HUMAN			Transcript		benign(0.444)	.	ENSP00000307235		CCDS33241.1			1	
GPR156	0	LGGM	GRCh37	3	119886215	119886215	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	41	3	.	.	ENST00000464295.1:c.2109C>T	p.Gly703=	p.G703=	ENST00000464295		703	ggC/ggT	0	1		UPI000004731C	0		ENST00000315843		ENSG00000175697	20844		44			HGNC	p.G703G	COSM581155	GPR156		SNV						1	ENST00000315843	protein_coding					G		A		2306/4193								GPR156,synonymous_variant,p.=,ENST00000464295,;GPR156,synonymous_variant,p.=,ENST00000315843,NM_153002.2,NM_001168271.1;GPR156,synonymous_variant,p.=,ENST00000461057,;GPR156,3_prime_UTR_variant,,ENST00000495912,;					1		LOW	2109/2445		GP156_HUMAN			Transcript			.	ENSP00000324553		CCDS2997.1			1	
PCCB	0	LGGM	GRCh37	3	136046505	136046505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	39	4	.	.	ENST00000469217.1:c.1389C>A	p.Ser463Arg	p.S463R	ENST00000469217	NM_001178014.1	463	agC/agA	0	1		UPI000006FE6C	0	getma.org/pdb.php?prot=PCCB_HUMAN&from=57&to=537&var=S443R	ENST00000251654		ENSG00000114054	8654		43	3.165		HGNC	p.S443R		PCCB		SNV			1				ENST00000251654	protein_coding	getma.org/?cm=var&var=hg19,3,136046505,C,A&fts=all		Superfamily_domains:SSF52096,Gene3D:3.90.226.10,Pfam_domain:PF01039,hmmpanther:PTHR22855:SF14,hmmpanther:PTHR22855,PROSITE_profiles:PS50989		S/R		A	medium	1399/1833		getma.org/?cm=msa&ty=f&p=PCCB_HUMAN&rb=57&re=537&var=S443R	deleterious_low_confidence(0)	Q8WVH4_HUMAN,C9JVW9_HUMAN,C9JAW3_HUMAN				PCCB,missense_variant,p.Ser443Arg,ENST00000471595,;PCCB,missense_variant,p.Ser474Arg,ENST00000468777,;PCCB,missense_variant,p.Ser463Arg,ENST00000466072,;PCCB,missense_variant,p.Ser463Arg,ENST00000469217,NM_001178014.1;PCCB,missense_variant,p.Ser443Arg,ENST00000251654,NM_000532.4;PCCB,missense_variant,p.Ser424Arg,ENST00000483687,;PCCB,missense_variant,p.Ser420Arg,ENST00000462637,;PCCB,missense_variant,p.Ser386Arg,ENST00000490504,;PCCB,missense_variant,p.Ser327Arg,ENST00000482086,;PCCB,intron_variant,,ENST00000478469,;PCCB,non_coding_transcript_exon_variant,,ENST00000474833,;PCCB,3_prime_UTR_variant,,ENST00000484181,;PCCB,non_coding_transcript_exon_variant,,ENST00000473073,;PCCB,downstream_gene_variant,,ENST00000475214,;							MODERATE	1329/1620	S443R	PCCB_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000251654		CCDS3089.1			1	
CCDC66	0	LGGM	GRCh37	3	56650054	56650055	+	inframe_insertion	In_Frame_Ins	INS	-	-	CTC	novel	by Submitter	H091831	H091831N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	4	11	.	.	ENST00000394672.3:c.1818_1819insCCT	p.Ser606_Lys607insPro	p.S606_K607insP	ENST00000394672	NM_001141947.1	606	tct/tCTCct	0	1	1	UPI000020ADBC	0		ENST00000394672		ENSG00000180376	27709	0.235	15			HGNC	p.S562delinsSP	rs112267342,COSM1485402,COSM1485401	CCDC66	0.407	insertion				0.38		0,1,1	ENST00000422222	protein_coding			hmmpanther:PTHR22736,hmmpanther:PTHR22736:SF1		S/SP		CTC		1886-1887/3096	0.116			F8WCY0_HUMAN			YES	CCDC66,inframe_insertion,p.Ser606_Lys607insPro,ENST00000394672,NM_001141947.1,NM_001012506.4;CCDC66,inframe_insertion,p.Ser606_Lys607insPro,ENST00000436465,;CCDC66,inframe_insertion,p.Ser572_Lys573insPro,ENST00000326595,;CCDC66,inframe_insertion,p.Ser562_Lys563insPro,ENST00000422222,;FAM208A,downstream_gene_variant,,ENST00000431842,NM_015224.3;CCDC66,downstream_gene_variant,,ENST00000484623,;CCDC66,3_prime_UTR_variant,,ENST00000471681,;CCDC66,3_prime_UTR_variant,,ENST00000341455,;CCDC66,non_coding_transcript_exon_variant,,ENST00000480884,;FAM208A,downstream_gene_variant,,ENST00000459993,;CCDC66,upstream_gene_variant,,ENST00000476142,;CCDC66,downstream_gene_variant,,ENST00000468108,;	0.342				0,1,1		MODERATE	1816-1817/2847		CCD66_HUMAN	0.126		Transcript	2		common_variant	ENSP00000378167	0.207	CCDS46852.1	0.204		1	
PXN	0	LGGM	GRCh37	12	120650338	120650338	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	34	5	.	.	ENST00000267257.7:c.1597G>T	p.Gly533Trp	p.G533W	ENST00000267257	NM_001243756.1	533	Ggg/Tgg	0	1		UPI0000E00CD4	0	getma.org/pdb.php?prot=PAXI_HUMAN&from=476&to=531&var=G519W	ENST00000228307		ENSG00000089159	9718		39	4.505		HGNC	p.G533W		PXN		SNV							ENST00000267257	protein_coding	getma.org/?cm=var&var=hg19,12,120650338,C,A&fts=all		Superfamily_domains:SSF57716,SMART_domains:SM00132,Gene3D:2.10.110.10,Pfam_domain:PF00412,hmmpanther:PTHR24216:SF11,hmmpanther:PTHR24216,PROSITE_profiles:PS50023		G/W		A	high	1697/3785		getma.org/?cm=msa&ty=f&p=PAXI_HUMAN&rb=476&re=531&var=G519W	deleterious(0)	F8W1E0_HUMAN,F8W0K8_HUMAN,F8W0G0_HUMAN				PXN,missense_variant,p.Gly331Trp,ENST00000397506,;PXN,missense_variant,p.Gly517Trp,ENST00000536957,;PXN,missense_variant,p.Gly533Trp,ENST00000267257,NM_001243756.1;PXN,missense_variant,p.Gly352Trp,ENST00000458477,NM_025157.4;PXN,missense_variant,p.Gly519Trp,ENST00000228307,NM_001080855.2;PXN,missense_variant,p.Gly485Trp,ENST00000424649,NM_002859.3;PXN,downstream_gene_variant,,ENST00000550795,;PXN-AS1,non_coding_transcript_exon_variant,,ENST00000535200,;PXN-AS1,non_coding_transcript_exon_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,;							MODERATE	1555/1776	G519W	PAXI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000228307		CCDS44997.1			1	
TP53	0	LGGM	GRCh37	17	7577539	7577539	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	1	5	.	.	ENST00000269305.4:c.742C>G	p.Arg248Gly	p.R248G	ENST00000269305	NM_001126112.2	248	Cgg/Ggg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R248G	ENST00000269305		ENSG00000141510	11998		6	3.315		HGNC	p.R248G	TP53_g.13379C>G,COSM11564,COSM1189381,COSM1189382,COSM1189383	TP53		SNV			1			0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577539,G,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/G		C	medium	932/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R248G	deleterious(0.03)	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			YES	TP53,missense_variant,p.Arg248Gly,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg248Gly,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg248Gly,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg248Gly,ENST00000445888,;TP53,missense_variant,p.Arg248Gly,ENST00000359597,;TP53,missense_variant,p.Arg248Gly,ENST00000413465,;TP53,missense_variant,p.Arg116Gly,ENST00000509690,;TP53,missense_variant,p.Arg155Gly,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,;					0,1,1,1,1		MODERATE	742/1182	R248G	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
FZD9	0	LGGM	GRCh37	7	72849039	72849039	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	38	5	.	.	ENST00000344575.3:c.702G>T	p.Trp234Cys	p.W234C	ENST00000344575	NM_003508.2	234	tgG/tgT	0	1	1	UPI000004EC98	0	NA	ENST00000344575		ENSG00000188763	4047		43	3.685		HGNC	p.W234C		FZD9		SNV							ENST00000344575	protein_coding	getma.org/?cm=var&var=hg19,7,72849039,G,T&fts=all		Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,Transmembrane_helices:TMhelix		W/C		T	high	931/2342		getma.org/?cm=msa&ty=f&p=FZD9_HUMAN&rb=221&re=547&var=W234C	deleterious(0)				YES	FZD9,missense_variant,p.Trp234Cys,ENST00000344575,NM_003508.2;							MODERATE	702/1776	W234C	FZD9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000345785		CCDS5548.1			1	
RBFOX1	0	LGGM	GRCh37	16	7568188	7568188	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	108	6	.	.	ENST00000311745.5:c.127C>A	p.Gln43Lys	p.Q43K	ENST00000311745	NM_145891.2	43	Cag/Aag	0	1		UPI0000163C0C	0	NA	ENST00000547338		ENSG00000078328	18222		114	2.095		HGNC	p.Q28K	COSM435780,COSM435779,COSM1479107	RBFOX1		SNV						1,1,1	ENST00000340209	protein_coding	getma.org/?cm=var&var=hg19,16,7568188,C,A&fts=all		hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8,PIRSF_domain:PIRSF037932		Q/K		A	medium	287/1513		getma.org/?cm=msa&ty=f&p=RFOX1_HUMAN&rb=1&re=118&var=Q23K	deleterious_low_confidence(0)	Q8TCM0_HUMAN,F8VZY7_HUMAN				RBFOX1,missense_variant,p.Gln28Lys,ENST00000340209,;RBFOX1,missense_variant,p.Gln66Lys,ENST00000547372,;RBFOX1,missense_variant,p.Gln43Lys,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Gln43Lys,ENST00000311745,NM_145891.2,NM_145892.2;RBFOX1,missense_variant,p.Gln23Lys,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Gln23Lys,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Gln23Lys,ENST00000547605,;RBFOX1,missense_variant,p.Gln66Lys,ENST00000422070,;RBFOX1,missense_variant,p.Gln59Lys,ENST00000535565,;RBFOX1,missense_variant,p.Gln43Lys,ENST00000436368,;RBFOX1,missense_variant,p.Gln23Lys,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Gln59Lys,ENST00000552089,;RBFOX1,missense_variant,p.Gln23Lys,ENST00000551752,;RBFOX1,missense_variant,p.Gln25Lys,ENST00000570626,;RBFOX1,non_coding_transcript_exon_variant,,ENST00000569889,;					1,1,1		MODERATE	67/1194	Q23K	RFOX1_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000447717		CCDS55983.1			1	
FAM188B	0	LGGM	GRCh37	7	30831138	30831138	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	10	6	.	.	ENST00000265299.6:c.1021G>T	p.Glu341Ter	p.E341*	ENST00000265299	NM_032222.2	341	Gag/Tag	0	1	1	UPI0000D60E7B	0	NA	ENST00000265299		ENSG00000106125	21916		16	0		HGNC	p.E341X		FAM188B		SNV							ENST00000265299	protein_coding	getma.org/?cm=var&var=hg19,7,30831138,G,T&fts=all		hmmpanther:PTHR12473,hmmpanther:PTHR12473:SF4		E/*		T	NA	1098/2733		NA					YES	FAM188B,stop_gained,p.Glu341Ter,ENST00000265299,NM_032222.2;INMT-FAM188B,3_prime_UTR_variant,,ENST00000458257,;FAM188B,downstream_gene_variant,,ENST00000494187,;INMT-FAM188B,downstream_gene_variant,,ENST00000451002,;							HIGH	1021/2274	E341*	F188B_HUMAN			Transcript			.	ENSP00000265299		CCDS43565.1			1	
KLHL34	0	LGGM	GRCh37	X	21675049	21675049	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	2	6	.	.	ENST00000379499.2:c.858G>T	p.Gly286=	p.G286=	ENST00000379499	NM_153270.1	286	ggG/ggT	0	1	1	UPI0000072CC4	0		ENST00000379499		ENSG00000185915	26634		8			HGNC	p.G286G		KLHL34		SNV							ENST00000379499	protein_coding			PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF66		G		A		1400/2840							YES	KLHL34,synonymous_variant,p.=,ENST00000379499,NM_153270.1;CNKSR2,downstream_gene_variant,,ENST00000425654,NM_001168647.1;CNKSR2,downstream_gene_variant,,ENST00000379510,NM_014927.3;							LOW	858/1935		KLH34_HUMAN			Transcript			.	ENSP00000368813		CCDS14199.1			1	
KIAA0020	0	LGGM	GRCh37	9	2824717	2824717	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	1	6	.	.	ENST00000397885.2:c.1134G>C	p.Lys378Asn	p.K378N	ENST00000397885	NM_014878.4	378	aaG/aaC	0	1	1	UPI000013D67E	0	getma.org/pdb.php?prot=K0020_HUMAN&from=143&to=510&var=K378N	ENST00000397885		ENSG00000080608	29676		7	3.36		HGNC	p.K378N		KIAA0020		SNV							ENST00000397885	protein_coding	getma.org/?cm=var&var=hg19,9,2824717,C,G&fts=all		Superfamily_domains:SSF48371,SMART_domains:SM00025,Gene3D:1.25.10.10,hmmpanther:PTHR13389,PROSITE_profiles:PS50302,PROSITE_profiles:PS50303		K/N		G	medium	1341/2321		getma.org/?cm=msa&ty=f&p=K0020_HUMAN&rb=143&re=510&var=K378N	deleterious(0)	S4R3K8_HUMAN			YES	KIAA0020,missense_variant,p.Lys378Asn,ENST00000397885,NM_014878.4;KIAA0020,downstream_gene_variant,,ENST00000469168,;							MODERATE	1134/1947	K378N	K0020_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000380982		CCDS6448.2			1	
ROR1	0	LGGM	GRCh37	1	64605800	64605800	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	18	8	.	.	ENST00000371079.1:c.619A>T	p.Thr207Ser	p.T207S	ENST00000371079	NM_005012.3	207	Act/Tct	0	1	1	UPI00001AF82C	0	NA	ENST00000371079		ENSG00000185483	10256		26	2.005		HGNC	p.T207S	rs762201037	ROR1		SNV				9.72E-05			ENST00000371080	protein_coding	getma.org/?cm=var&var=hg19,1,64605800,A,T&fts=all		Pfam_domain:PF01392,PIRSF_domain:PIRSF000624,PROSITE_profiles:PS50038,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132		T/S		T	medium	994/5832		getma.org/?cm=msa&ty=f&p=ROR1_HUMAN&rb=170&re=297&var=T207S	deleterious(0.03)				YES	ROR1,missense_variant,p.Thr207Ser,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Thr207Ser,ENST00000371080,NM_001083592.1;ROR1,5_prime_UTR_variant,,ENST00000545203,;RP11-24J23.2,intron_variant,,ENST00000424995,;ROR1,non_coding_transcript_exon_variant,,ENST00000482426,;							MODERATE	619/2814	T207S	ROR1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000360120	8.24E-06	CCDS626.1			1	
ZNF107	0	LGGM	GRCh37	7	64168944	64168944	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	17	8	.	.	ENST00000395391.1:c.2262C>T	p.Gly754=	p.G754=	ENST00000395391		754	ggC/ggT	0	1		UPI000000DBC2	0		ENST00000344930		ENSG00000196247	12887		25			HGNC	p.G754G		ZNF107		SNV							ENST00000344930	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF121,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		T		2714/5174				Q9H3U2_HUMAN,C9JSF9_HUMAN				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;							LOW	2262/2352		ZN107_HUMAN			Transcript			.	ENSP00000343443		CCDS5527.1			1	
FOSB	0	LGGM	GRCh37	19	45974151	45974151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	8	9	.	.	ENST00000353609.3:c.391G>A	p.Gly131Arg	p.G131R	ENST00000353609	NM_006732.2	131	Ggg/Agg	0	1	1	UPI000004F5D2	0	NA	ENST00000353609		ENSG00000125740	3797		17	1.1		HGNC	p.G82R		FOSB		SNV							ENST00000586615	protein_coding	getma.org/?cm=var&var=hg19,19,45974151,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23351:SF3,hmmpanther:PTHR23351		G/R		A	low	983/3775		getma.org/?cm=msa&ty=f&p=FOSB_HUMAN&rb=1&re=152&var=G131R	deleterious(0)	Q49AD7_HUMAN,K7ERZ8_HUMAN,K7EKC1_HUMAN,K7EKA0_HUMAN			YES	FOSB,missense_variant,p.Gly131Arg,ENST00000353609,NM_006732.2;FOSB,missense_variant,p.Gly82Arg,ENST00000586615,;FOSB,missense_variant,p.Gly131Arg,ENST00000417353,NM_001114171.1;FOSB,missense_variant,p.Gly92Arg,ENST00000591858,;FOSB,missense_variant,p.Gly92Arg,ENST00000585836,;FOSB,missense_variant,p.Gly82Arg,ENST00000592811,;FOSB,missense_variant,p.Gly131Arg,ENST00000590335,;FOSB,missense_variant,p.Gly131Arg,ENST00000592436,;FOSB,missense_variant,p.Gly82Arg,ENST00000589593,;FOSB,intron_variant,,ENST00000443841,;ERCC1,intron_variant,,ENST00000423698,;FOSB,non_coding_transcript_exon_variant,,ENST00000586113,;FOSB,upstream_gene_variant,,ENST00000587358,;							MODERATE	391/1017	G131R	FOSB_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000245919		CCDS12664.1			1	
FN1	0	LGGM	GRCh37	2	216284014	216284014	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	26	9	.	.	ENST00000354785.4:c.1770T>C	p.Tyr590=	p.Y590=	ENST00000354785		590	taT/taC	0	1		UPI00001AEBF3	0		ENST00000359671		ENSG00000115414	3778		35			HGNC	p.Y590Y		FN1		SNV			1				ENST00000446046	protein_coding			Gene3D:2.10.70.10,Pfam_domain:PF00039,PROSITE_patterns:PS01253,PROSITE_profiles:PS51091,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187,SMART_domains:SM00058,Superfamily_domains:SSF57603		Y		G		2036/8524				Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,synonymous_variant,p.=,ENST00000354785,;FN1,synonymous_variant,p.=,ENST00000323926,NM_212482.1;FN1,synonymous_variant,p.=,ENST00000359671,;FN1,synonymous_variant,p.=,ENST00000336916,NM_212478.1,NM_002026.2;FN1,synonymous_variant,p.=,ENST00000421182,;FN1,synonymous_variant,p.=,ENST00000357009,;FN1,synonymous_variant,p.=,ENST00000346544,;FN1,synonymous_variant,p.=,ENST00000446046,;FN1,synonymous_variant,p.=,ENST00000345488,;FN1,synonymous_variant,p.=,ENST00000357867,NM_212474.1;FN1,synonymous_variant,p.=,ENST00000356005,NM_212476.1;FN1,synonymous_variant,p.=,ENST00000443816,;FN1,synonymous_variant,p.=,ENST00000432072,;FN1,synonymous_variant,p.=,ENST00000426059,NM_054034.2;FN1,non_coding_transcript_exon_variant,,ENST00000496542,;							LOW	1770/7161		FINC_HUMAN			Transcript			.	ENSP00000352696					1	
PNPT1	0	LGGM	GRCh37	2	55895066	55895066	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	15	9	.	.	ENST00000447944.2:c.1004A>C	p.Glu335Ala	p.E335A	ENST00000447944	NM_033109.4	335	gAa/gCa	0	1		UPI000020848E	0	getma.org/pdb.php?prot=PNPT1_HUMAN&from=282&to=363&var=E335A	ENST00000415374		ENSG00000138035	23166		24	1.465		HGNC	p.E335A		PNPT1		SNV			1				ENST00000447944	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,55895066,T,G&fts=all		Gene3D:1.10.10.400,Pfam_domain:PF03726,PIRSF_domain:PIRSF005499,hmmpanther:PTHR11252,hmmpanther:PTHR11252:SF0,Superfamily_domains:SSF46915,TIGRFAM_domain:TIGR03591		E/A		G	low	1004/3308		getma.org/?cm=msa&ty=f&p=PNPT1_HUMAN&rb=282&re=363&var=E335A	tolerated(0.95)					PNPT1,missense_variant,p.Glu335Ala,ENST00000447944,NM_033109.4;PNPT1,missense_variant,p.Glu335Ala,ENST00000415374,;PNPT1,missense_variant,p.Glu27Ala,ENST00000415489,;PNPT1,3_prime_UTR_variant,,ENST00000260604,;							MODERATE	1004/2352	E335A	PNPT1_HUMAN			Transcript		benign(0.004)	.	ENSP00000393953		CCDS1856.1			1	
FAM211B	0	LGGM	GRCh37	22	24982018	24982018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	26	10	.	.	ENST00000318753.8:c.784G>T	p.Gly262Cys	p.G262C	ENST00000318753	NM_207644.2	262	Ggc/Tgc	0	1	1	UPI00002073C9	0	NA	ENST00000318753		ENSG00000178026	33155		36	1.87		HGNC	p.G262C		FAM211B		SNV							ENST00000318753	protein_coding	getma.org/?cm=var&var=hg19,22,24982018,C,A&fts=all				G/C		A	low	808/1238		getma.org/?cm=msa&ty=f&p=F211B_HUMAN&rb=201&re=315&var=G262C	deleterious(0.01)				YES	FAM211B,missense_variant,p.Gly262Cys,ENST00000318753,NM_207644.2;GGT1,intron_variant,,ENST00000248923,NM_013430.2;SNRPD3,downstream_gene_variant,,ENST00000402849,;FAM211B,downstream_gene_variant,,ENST00000495297,;FAM211B,downstream_gene_variant,,ENST00000464490,;FAM211B,3_prime_UTR_variant,,ENST00000446942,;FAM211B,3_prime_UTR_variant,,ENST00000404045,;FAM211B,non_coding_transcript_exon_variant,,ENST00000491910,;FAM211B,non_coding_transcript_exon_variant,,ENST00000460524,;SNRPD3,intron_variant,,ENST00000404603,;SNRPD3,intron_variant,,ENST00000439775,;FAM211B,downstream_gene_variant,,ENST00000465334,;							MODERATE	784/948	G262C	F211B_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000320520		CCDS42991.1			1	
PARP3	0	LGGM	GRCh37	3	51979070	51979078	+	inframe_deletion	In_Frame_Del	DEL	GAGGCCTTG	GAGGCCTTG	-	novel	by Submitter	H091831	H091831N.bam	GAGGCCTTG	GAGGCCTTG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	30	10	.	.	ENST00000398755.3:c.717_725del	p.Ala242_Glu244del	p.A242_E244del	ENST00000398755		238	GAGGCCTTG/-	0	1		UPI0000457116	0		ENST00000417220		ENSG00000041880	273		40			HGNC	p.231_233del	rs750079296	PARP3		deletion							ENST00000431474	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS51060,hmmpanther:PTHR15447,hmmpanther:PTHR15447:SF9,Gene3D:1.20.142.10,Pfam_domain:PF02877,Superfamily_domains:SSF47587		EAL/-		-		1179-1187/2472	9.03E-05			C9J9C7_HUMAN				PARP3,inframe_deletion,p.Ala235_Glu237del,ENST00000417220,;PARP3,inframe_deletion,p.Ala235_Glu237del,ENST00000431474,NM_005485.4,NM_001003931.2;PARP3,inframe_deletion,p.Ala242_Glu244del,ENST00000398755,;PARP3,inframe_deletion,p.Ala235_Glu237del,ENST00000498510,;RRP9,upstream_gene_variant,,ENST00000232888,NM_004704.4;PARP3,upstream_gene_variant,,ENST00000486510,;PARP3,3_prime_UTR_variant,,ENST00000471971,;PARP3,non_coding_transcript_exon_variant,,ENST00000475782,;PARP3,downstream_gene_variant,,ENST00000470601,;PARP3,downstream_gene_variant,,ENST00000470749,;	0.00627						MODERATE	691-699/1602		PARP3_HUMAN	0.000302		Transcript	5		common_variant	ENSP00000395951	0.000513	CCDS43097.1			1	
SHROOM4	0	LGGM	GRCh37	X	50377750	50377750	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	22	10	.	.	ENST00000376020.2:c.1323T>G	p.Asp441Glu	p.D441E	ENST00000376020	NM_020717.3	441	gaT/gaG	0	1		UPI00001C2068	0	NA	ENST00000289292		ENSG00000158352	29215		32	1.6		HGNC	p.D325E		SHROOM4		SNV			1				ENST00000460112	protein_coding	getma.org/?cm=var&var=hg19,X,50377750,A,C&fts=all		hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012		D/E		C	low	1607/6261		getma.org/?cm=msa&ty=f&p=SHRM4_HUMAN&rb=290&re=713&var=D441E	tolerated(0.2)					SHROOM4,missense_variant,p.Asp441Glu,ENST00000376020,NM_020717.3;SHROOM4,missense_variant,p.Asp325Glu,ENST00000460112,;SHROOM4,missense_variant,p.Asp441Glu,ENST00000289292,;							MODERATE	1323/4482	D441E	SHRM4_HUMAN			Transcript		benign(0.019)	.	ENSP00000289292		CCDS35277.1			1	
ATG9A	0	LGGM	GRCh37	2	220088362	220088362	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	12	10	.	.	ENST00000409618.1:c.1544T>C	p.Val515Ala	p.V515A	ENST00000409618		515	gTg/gCg	0	1		UPI0000209615	0	NA	ENST00000361242		ENSG00000198925	22408		22	3.03		HGNC	p.V454A		ATG9A		SNV							ENST00000409422	protein_coding	getma.org/?cm=var&var=hg19,2,220088362,A,G&fts=all		hmmpanther:PTHR13038:SF13,hmmpanther:PTHR13038,Pfam_domain:PF04109		V/A		G	medium	1761/3130		getma.org/?cm=msa&ty=f&p=ATG9A_HUMAN&rb=172&re=533&var=V515A	deleterious(0)	C9JXG2_HUMAN,C9JX27_HUMAN,C9JS65_HUMAN,C9JKV7_HUMAN,C9JFV2_HUMAN,C9JDK4_HUMAN,C9JD65_HUMAN,C9IYZ9_HUMAN				ATG9A,missense_variant,p.Val515Ala,ENST00000409618,;ATG9A,missense_variant,p.Val515Ala,ENST00000396761,NM_024085.3;ATG9A,missense_variant,p.Val515Ala,ENST00000361242,NM_001077198.1;ATG9A,missense_variant,p.Val454Ala,ENST00000409422,;ATG9A,missense_variant,p.Val74Ala,ENST00000429920,;ABCB6,upstream_gene_variant,,ENST00000265316,NM_005689.2;ABCB6,upstream_gene_variant,,ENST00000439002,;ATG9A,downstream_gene_variant,,ENST00000436856,;ATG9A,downstream_gene_variant,,ENST00000432520,;ATG9A,downstream_gene_variant,,ENST00000428226,;ATG9A,downstream_gene_variant,,ENST00000457841,;ATG9A,downstream_gene_variant,,ENST00000443140,;ATG9A,downstream_gene_variant,,ENST00000439812,;ATG9A,downstream_gene_variant,,ENST00000431715,;ATG9A,downstream_gene_variant,,ENST00000434939,;AC068946.1,downstream_gene_variant,,ENST00000408417,;ATG9A,downstream_gene_variant,,ENST00000488833,;ATG9A,synonymous_variant,p.=,ENST00000409033,;ATG9A,upstream_gene_variant,,ENST00000446716,;ATG9A,upstream_gene_variant,,ENST00000475339,;ATG9A,downstream_gene_variant,,ENST00000466217,;ATG9A,downstream_gene_variant,,ENST00000486766,;ATG9A,downstream_gene_variant,,ENST00000456708,;ATG9A,downstream_gene_variant,,ENST00000412355,;ATG9A,downstream_gene_variant,,ENST00000455079,;							MODERATE	1544/2520	V515A	ATG9A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355173		CCDS42820.1			1	
ZCCHC4	0	LGGM	GRCh37	4	25314444	25314444	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	36	11	.	.	ENST00000302874.4:c.13A>G	p.Arg5Gly	p.R5G	ENST00000302874	NM_024936.2	5	Agg/Ggg	0	1	1	UPI0000251F28	0	NA	ENST00000302874		ENSG00000168228	22917		47	0.345		HGNC	p.R5G	rs755437967	ZCCHC4	0.000121	SNV							ENST00000507760	protein_coding	getma.org/?cm=var&var=hg19,4,25314444,A,G&fts=all		hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2		R/G		G	neutral	37/2785		getma.org/?cm=msa&ty=f&p=ZCHC4_HUMAN&rb=1&re=37&var=R5G	tolerated_low_confidence(0.07)				YES	ZCCHC4,missense_variant,p.Arg5Gly,ENST00000302874,NM_024936.2;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,;ZCCHC4,missense_variant,p.Arg5Gly,ENST00000507760,;							MODERATE	13/1542	R5G	ZCHC4_HUMAN			Transcript		benign(0.002)	.	ENSP00000303468	1.65E-05	CCDS43218.1			1	
USP14	0	LGGM	GRCh37	18	196645	196645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	26	11	.	.	ENST00000261601.7:c.472G>T	p.Asp158Tyr	p.D158Y	ENST00000261601	NM_005151.3	158	Gat/Tat	0	1	1	UPI0000163941	0	getma.org/pdb.php?prot=UBP14_HUMAN&from=102&to=480&var=D158Y	ENST00000261601		ENSG00000101557	12612		37	2.85		HGNC	p.D158Y		USP14		SNV							ENST00000261601	protein_coding	getma.org/?cm=var&var=hg19,18,196645,G,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF351,Pfam_domain:PF00443,Superfamily_domains:SSF54001		D/Y		T	medium	563/4921		getma.org/?cm=msa&ty=f&p=UBP14_HUMAN&rb=102&re=480&var=D158Y	deleterious(0)	J3KS55_HUMAN,D3DUG9_HUMAN			YES	USP14,missense_variant,p.Asp158Tyr,ENST00000261601,NM_005151.3;USP14,missense_variant,p.Asp112Tyr,ENST00000383589,;USP14,missense_variant,p.Asp123Tyr,ENST00000582707,NM_001037334.1;USP14,missense_variant,p.Asp147Tyr,ENST00000400266,;USP14,3_prime_UTR_variant,,ENST00000583119,;USP14,non_coding_transcript_exon_variant,,ENST00000578942,;USP14,non_coding_transcript_exon_variant,,ENST00000578786,;							MODERATE	472/1485	D158Y	UBP14_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000261601		CCDS32780.1			1	
LRRK2	0	LGGM	GRCh37	12	40681280	40681280	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	23	12	.	.	ENST00000298910.7:c.2628C>G	p.Thr876=	p.T876=	ENST00000298910	NM_198578.3	876	acC/acG	0	1	1	UPI00006C128E	0		ENST00000298910		ENSG00000188906	18618		35			HGNC	p.T876T		LRRK2		SNV			1				ENST00000298910	protein_coding			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417		T		G		2686/9158							YES	LRRK2,synonymous_variant,p.=,ENST00000298910,NM_198578.3;LRRK2,synonymous_variant,p.=,ENST00000343742,;LRRK2,downstream_gene_variant,,ENST00000416796,;AC084290.2,downstream_gene_variant,,ENST00000434995,;							LOW	2628/7584		LRRK2_HUMAN			Transcript			.	ENSP00000298910		CCDS31774.1			1	
CCNB1IP1	0	LGGM	GRCh37	14	20781912	20781912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	24	12	.	.	ENST00000398169.3:c.346G>T	p.Gly116Cys	p.G116C	ENST00000398169		116	Ggc/Tgc	0	1		UPI000000CBC0	0	NA	ENST00000353689		ENSG00000100814	19437		36	1.04		HGNC	p.G116C		CCNB1IP1		SNV							ENST00000358932	protein_coding	getma.org/?cm=var&var=hg19,14,20781912,C,A&fts=all		hmmpanther:PTHR14305		G/C		A	low	621/1288		getma.org/?cm=msa&ty=f&p=CIP1_HUMAN&rb=1&re=200&var=G116C	tolerated(0.08)	G3V5S3_HUMAN				CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000398169,;CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000437553,NM_182852.3;CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000398160,;CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000398163,;CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000358932,NM_021178.4;CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000557665,;CCNB1IP1,missense_variant,p.Gly116Cys,ENST00000353689,NM_182849.2;CCNB1IP1,downstream_gene_variant,,ENST00000556563,;CCNB1IP1,downstream_gene_variant,,ENST00000553291,;CCNB1IP1,downstream_gene_variant,,ENST00000553516,;CCNB1IP1,3_prime_UTR_variant,,ENST00000556854,;CCNB1IP1,3_prime_UTR_variant,,ENST00000554184,;CCNB1IP1,downstream_gene_variant,,ENST00000554047,;							MODERATE	346/834	G116C	CIP1_HUMAN			Transcript		benign(0.009)	.	ENSP00000337396		CCDS9547.1			1	
IFT74	0	LGGM	GRCh37	9	27009026	27009026	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	7	13	.	.	ENST00000443698.1:c.596A>C	p.Lys199Thr	p.K199T	ENST00000443698	NM_001099222.1	199	aAa/aCa	0	1		UPI000004B286	0	NA	ENST00000380062		ENSG00000096872	21424		20	0.345		HGNC	p.K199T		IFT74		SNV							ENST00000380062	protein_coding	getma.org/?cm=var&var=hg19,9,27009026,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31432,hmmpanther:PTHR31432:SF0		K/T		C	neutral	759/2160		getma.org/?cm=msa&ty=f&p=IFT74_HUMAN&rb=110&re=270&var=K199T	tolerated(0.11)	E5RH29_HUMAN,E5RGX6_HUMAN,A0PJM7_HUMAN				IFT74,missense_variant,p.Lys199Thr,ENST00000443698,NM_001099222.1;IFT74,missense_variant,p.Lys199Thr,ENST00000380062,NM_025103.2;IFT74,missense_variant,p.Lys199Thr,ENST00000433700,NM_001099223.1;IFT74,missense_variant,p.Lys199Thr,ENST00000429045,NM_001099224.1;LRRC19,upstream_gene_variant,,ENST00000380055,NM_022901.2;							MODERATE	596/1803	K199T	IFT74_HUMAN			Transcript		benign(0.146)	.	ENSP00000369402		CCDS43793.1			1	
SBNO1	0	LGGM	GRCh37	12	123815044	123815044	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	22	13	.	.	ENST00000420886.2:c.1056A>T	p.Ser352=	p.S352=	ENST00000420886	NM_001167856.1	352	tcA/tcT	0	1	1	UPI00001FB922	0		ENST00000420886		ENSG00000139697	22973		35			HGNC	p.S352S		SBNO1		SNV							ENST00000420886	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF13872,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8,Superfamily_domains:SSF52540		S		A		1056/10981				Q9NVJ3_HUMAN			YES	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,;							LOW	1056/4182		SBNO1_HUMAN			Transcript			.	ENSP00000387361		CCDS53844.1			1	
LYPD1	0	LGGM	GRCh37	2	133403688	133403688	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	5	13	.	.	ENST00000397463.2:c.356C>T	p.Ser119Leu	p.S119L	ENST00000397463	NM_144586.5	119	tCg/tTg	0	1	1	UPI00000477F5	0	NA	ENST00000397463		ENSG00000150551	28431		18	0		HGNC	p.S67L	rs770332492	LYPD1	0.000544	SNV							ENST00000345008	protein_coding	getma.org/?cm=var&var=hg19,2,133403688,G,A&fts=all		hmmpanther:PTHR10036,hmmpanther:PTHR10036:SF5		S/L		A	neutral	629/1891		getma.org/?cm=msa&ty=f&p=LYPD1_HUMAN&rb=1&re=141&var=S119L	tolerated_low_confidence(0.09)	Q53T92_HUMAN,Q53RU6_HUMAN			YES	LYPD1,missense_variant,p.Ser119Leu,ENST00000397463,NM_144586.5;LYPD1,missense_variant,p.Ser67Leu,ENST00000345008,NM_001077427.2;GPR39,3_prime_UTR_variant,,ENST00000329321,NM_001508.2;GPR39,non_coding_transcript_exon_variant,,ENST00000470071,;							MODERATE	356/426	S119L	LYPD1_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000380605	6.62E-05	CCDS42759.1			1	
PARP6	0	LGGM	GRCh37	15	72545786	72545786	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	11	14	.	.	ENST00000569795.1:c.1251C>T	p.Leu417=	p.L417=	ENST00000569795		417	ctC/ctT	0	1		UPI000067DA73	0		ENST00000287196		ENSG00000137817	26921		25			HGNC	p.L417L		PARP6		SNV							ENST00000419739	protein_coding			Superfamily_domains:SSF56399,hmmpanther:PTHR21328,hmmpanther:PTHR21328:SF23,PROSITE_profiles:PS51059		L		A		1710/2625				H3BUY2_HUMAN,H3BTI3_HUMAN				PARP6,synonymous_variant,p.=,ENST00000569795,;PARP6,synonymous_variant,p.=,ENST00000287196,NM_020214.2;PARP6,synonymous_variant,p.=,ENST00000260376,;PARP6,synonymous_variant,p.=,ENST00000567974,;PARP6,synonymous_variant,p.=,ENST00000419739,;PARP6,intron_variant,,ENST00000569173,;PARP6,non_coding_transcript_exon_variant,,ENST00000413097,;PARP6,non_coding_transcript_exon_variant,,ENST00000544520,;PARP6,synonymous_variant,p.=,ENST00000565443,;PARP6,synonymous_variant,p.=,ENST00000564610,;PARP6,synonymous_variant,p.=,ENST00000567263,;PARP6,synonymous_variant,p.=,ENST00000569890,;PARP6,3_prime_UTR_variant,,ENST00000567440,;PARP6,3_prime_UTR_variant,,ENST00000567042,;PARP6,upstream_gene_variant,,ENST00000569972,;PARP6,upstream_gene_variant,,ENST00000566831,;PARP6,upstream_gene_variant,,ENST00000568213,;							LOW	1251/1893		PARP6_HUMAN			Transcript			.	ENSP00000287196		CCDS10241.2			1	
ZNF366	0	LGGM	GRCh37	5	71756398	71756398	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	24	15	.	.	ENST00000318442.5:c.926A>T	p.His309Leu	p.H309L	ENST00000318442	NM_152625.1	309	cAc/cTc	0	1	1	UPI000013C368	0	getma.org/pdb.php?prot=ZN366_HUMAN&from=305&to=322&var=H309L	ENST00000318442		ENSG00000178175	18316		39	1.385		HGNC	p.H309L		ZNF366		SNV							ENST00000318442	protein_coding	getma.org/?cm=var&var=hg19,5,71756398,T,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_profiles:PS50157,hmmpanther:PTHR24390,hmmpanther:PTHR24390:SF38,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/L		A	low	1417/3830		getma.org/?cm=msa&ty=f&p=ZN366_HUMAN&rb=275&re=352&var=H309L	deleterious(0)	F8W732_HUMAN			YES	ZNF366,missense_variant,p.His309Leu,ENST00000318442,NM_152625.1;ZNF366,downstream_gene_variant,,ENST00000414109,;ZNF366,downstream_gene_variant,,ENST00000514477,;							MODERATE	926/2235	H309L	ZN366_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000313158		CCDS4015.1			1	
SAMM50	0	LGGM	GRCh37	22	44368192	44368192	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	33	15	.	.	ENST00000350028.4:c.399C>G	p.Asn133Lys	p.N133K	ENST00000350028	NM_015380.4	133	aaC/aaG	0	1	1	UPI000016A33D	0	NA	ENST00000350028		ENSG00000100347	24276		48	1.78		HGNC	p.N133K		SAMM50		SNV							ENST00000350028	protein_coding	getma.org/?cm=var&var=hg19,22,44368192,C,G&fts=all		hmmpanther:PTHR12815		N/K		G	low	556/1717		getma.org/?cm=msa&ty=f&p=SAM50_HUMAN&rb=1&re=150&var=N133K	tolerated(0.15)	A8MZI2_HUMAN			YES	SAMM50,missense_variant,p.Asn133Lys,ENST00000350028,NM_015380.4;SAMM50,intron_variant,,ENST00000396202,;SAMM50,non_coding_transcript_exon_variant,,ENST00000493161,;SAMM50,upstream_gene_variant,,ENST00000474323,;							MODERATE	399/1410	N133K	SAM50_HUMAN			Transcript		benign(0.091)	.	ENSP00000345445		CCDS14055.1			1	
TMEM151A	0	LGGM	GRCh37	11	66061831	66061831	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	27	15	.	.	ENST00000327259.4:c.114C>T	p.Cys38=	p.C38=	ENST00000327259	NM_153266.3	38	tgC/tgT	0	1	1	UPI0000070F9B	0		ENST00000327259		ENSG00000179292	28497		42			HGNC	p.C38C		TMEM151A		SNV							ENST00000327259	protein_coding			Pfam_domain:PF14857,hmmpanther:PTHR31893,hmmpanther:PTHR31893:SF3		C		T		258/2562							YES	TMEM151A,synonymous_variant,p.=,ENST00000327259,NM_153266.3;							LOW	114/1407		T151A_HUMAN			Transcript			.	ENSP00000326244		CCDS8133.1			1	
ZNF19	0	LGGM	GRCh37	16	71509244	71509244	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	10	15	.	.	ENST00000288177.5:c.1206G>T	p.Gln402His	p.Q402H	ENST00000288177	NM_006961.3	402	caG/caT	0	1	1	UPI00001E0590	0	getma.org/pdb.php?prot=ZNF19_HUMAN&from=399&to=424&var=Q402H	ENST00000288177		ENSG00000157429	12981		25	1.5		HGNC	p.Q360H		ZNF19		SNV							ENST00000565637	protein_coding	getma.org/?cm=var&var=hg19,16,71509244,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF59,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/H		A	low	1462/3213		getma.org/?cm=msa&ty=f&p=ZNF19_HUMAN&rb=379&re=444&var=Q402H	tolerated(0.06)	J3KT56_HUMAN,H3BQI6_HUMAN,H3BQ26_HUMAN,H3BNI0_HUMAN,H3BNH9_HUMAN			YES	ZNF19,missense_variant,p.Gln402His,ENST00000288177,NM_006961.3;ZNF19,missense_variant,p.Gln360His,ENST00000565637,;ZNF19,missense_variant,p.Gln402His,ENST00000564230,;ZNF19,missense_variant,p.Gln332His,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,;							MODERATE	1206/1377	Q402H	ZNF19_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000288177		CCDS10901.1			1	
USP14	0	LGGM	GRCh37	18	196665	196665	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	29	15	.	.	ENST00000261601.7:c.492T>A	p.Asp164Glu	p.D164E	ENST00000261601	NM_005151.3	164	gaT/gaA	0	1	1	UPI0000163941	0	getma.org/pdb.php?prot=UBP14_HUMAN&from=102&to=480&var=D164E	ENST00000261601		ENSG00000101557	12612		44	0.19		HGNC	p.D164E		USP14		SNV							ENST00000261601	protein_coding	getma.org/?cm=var&var=hg19,18,196665,T,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF351,Pfam_domain:PF00443,Superfamily_domains:SSF54001		D/E		A	neutral	583/4921		getma.org/?cm=msa&ty=f&p=UBP14_HUMAN&rb=102&re=480&var=D164E	tolerated(0.35)	J3KS55_HUMAN,D3DUG9_HUMAN			YES	USP14,missense_variant,p.Asp164Glu,ENST00000261601,NM_005151.3;USP14,missense_variant,p.Asp118Glu,ENST00000383589,;USP14,missense_variant,p.Asp129Glu,ENST00000582707,NM_001037334.1;USP14,missense_variant,p.Asp153Glu,ENST00000400266,;USP14,3_prime_UTR_variant,,ENST00000583119,;USP14,non_coding_transcript_exon_variant,,ENST00000578942,;USP14,non_coding_transcript_exon_variant,,ENST00000578786,;							MODERATE	492/1485	D164E	UBP14_HUMAN			Transcript		benign(0.075)	.	ENSP00000261601		CCDS32780.1			1	
SOGA3	0	LGGM	GRCh37	6	127796921	127796921	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	8	15	.	.	ENST00000481848.2:c.2250C>T	p.Asp750=	p.D750=	ENST00000481848		750	gaC/gaT	0	1		UPI0000419273	0		ENST00000481848		ENSG00000255330	21494		23			Uniprot_gn	p.D750D		SOGA3		SNV							ENST00000556132	nonsense_mediated_decay			hmmpanther:PTHR15742,hmmpanther:PTHR15742:SF2		D		A		2761/11464				A5PLQ8_HUMAN			YES	SOGA3,synonymous_variant,p.=,ENST00000556132,NM_001012279.2;SOGA3,synonymous_variant,p.=,ENST00000525778,;SOGA3,synonymous_variant,p.=,ENST00000465909,;SOGA3,synonymous_variant,p.=,ENST00000368268,;SOGA3,upstream_gene_variant,,ENST00000474293,;SOGA3,synonymous_variant,p.=,ENST00000481848,;SOGA3,synonymous_variant,p.=,ENST00000473298,;SOGA3,upstream_gene_variant,,ENST00000464495,;							LOW	2250/2844					Transcript			.	ENSP00000455908		CCDS43505.1			1	
OCEL1	0	LGGM	GRCh37	19	17338703	17338703	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	6	16	.	.	ENST00000215061.4:c.507C>A	p.Phe169Leu	p.F169L	ENST00000215061	NM_024578.1	169	ttC/ttA	0	1	1	UPI000006D43F	0	NA	ENST00000215061		ENSG00000099330	26221		22	2.58		HGNC	p.F169L		OCEL1		SNV							ENST00000215061	protein_coding	getma.org/?cm=var&var=hg19,19,17338703,C,A&fts=all		Superfamily_domains:0053542,Pfam_domain:PF07303,hmmpanther:PTHR23288,hmmpanther:PTHR23288:SF15		F/L		A	medium	551/1133		getma.org/?cm=msa&ty=f&p=OCEL1_HUMAN&rb=153&re=254&var=F169L	deleterious(0.01)	M0QZ36_HUMAN			YES	OCEL1,missense_variant,p.Phe131Leu,ENST00000598068,;OCEL1,missense_variant,p.Phe169Leu,ENST00000215061,NM_024578.1;OCEL1,missense_variant,p.Phe113Leu,ENST00000597836,;OCEL1,missense_variant,p.Phe168Leu,ENST00000600232,;OCEL1,intron_variant,,ENST00000601529,;NR2F6,downstream_gene_variant,,ENST00000291442,NM_005234.3;OCEL1,upstream_gene_variant,,ENST00000595573,;OCEL1,upstream_gene_variant,,ENST00000600826,;OCEL1,non_coding_transcript_exon_variant,,ENST00000601576,;OCEL1,downstream_gene_variant,,ENST00000602236,;OCEL1,3_prime_UTR_variant,,ENST00000598172,;OCEL1,non_coding_transcript_exon_variant,,ENST00000594283,;OCEL1,non_coding_transcript_exon_variant,,ENST00000596279,;OCEL1,intron_variant,,ENST00000599588,;OCEL1,intron_variant,,ENST00000595769,;OCEL1,intron_variant,,ENST00000599286,;							MODERATE	507/795	F169L	OCEL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000215061		CCDS12351.1			1	
CYTH2	0	LGGM	GRCh37	19	48977218	48977218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	17	16	.	.	ENST00000452733.2:c.491T>C	p.Met164Thr	p.M164T	ENST00000452733		164	aTg/aCg	0	1		UPI0000E5A220	0	getma.org/pdb.php?prot=CYH2_HUMAN&from=58&to=243&var=M164T	ENST00000427476		ENSG00000105443	9502		33	3.305		HGNC	p.M164T		CYTH2		SNV							ENST00000391881	protein_coding	getma.org/?cm=var&var=hg19,19,48977218,T,C&fts=all		PROSITE_profiles:PS50190,hmmpanther:PTHR10663:SF123,hmmpanther:PTHR10663,Pfam_domain:PF01369,Gene3D:1.10.1000.11,SMART_domains:SM00222,Superfamily_domains:SSF48425		M/T		C	medium	791/4607		getma.org/?cm=msa&ty=f&p=CYH2_HUMAN&rb=58&re=243&var=M164T	deleterious(0)	M0QZ92_HUMAN,J3KQA6_HUMAN				CYTH2,missense_variant,p.Met164Thr,ENST00000427476,NM_017457.5,NM_004228.6;CYTH2,missense_variant,p.Met164Thr,ENST00000452733,;CYTH2,missense_variant,p.Met186Thr,ENST00000325139,;CYTH2,missense_variant,p.Met77Thr,ENST00000595765,;CTC-273B12.7,downstream_gene_variant,,ENST00000595676,;CTC-273B12.5,upstream_gene_variant,,ENST00000600650,;CTC-273B12.5,upstream_gene_variant,,ENST00000593476,;CTC-273B12.5,upstream_gene_variant,,ENST00000596497,;CYTH2,missense_variant,p.Met164Thr,ENST00000391881,;CYTH2,non_coding_transcript_exon_variant,,ENST00000493260,;CYTH2,non_coding_transcript_exon_variant,,ENST00000467412,;CYTH2,non_coding_transcript_exon_variant,,ENST00000460595,;CYTH2,non_coding_transcript_exon_variant,,ENST00000474209,;CYTH2,downstream_gene_variant,,ENST00000474049,;CYTH2,downstream_gene_variant,,ENST00000462117,;							MODERATE	491/1203	M164T				Transcript		probably_damaging(1)	.	ENSP00000391648					1	
CASP5	0	LGGM	GRCh37	11	104871137	104871137	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	53	17	.	.	ENST00000393141.2:c.842G>T	p.Gly281Val	p.G281V	ENST00000393141	NM_004347.3	281	gGc/gTc	0	1		UPI0001824643	0	getma.org/pdb.php?prot=CASP5_HUMAN&from=193&to=430&var=G268V	ENST00000260315		ENSG00000137757	1506		70	4.1		HGNC	p.G281V		CASP5		SNV							ENST00000393141	protein_coding	getma.org/?cm=var&var=hg19,11,104871137,C,A&fts=all		PROSITE_profiles:PS50208,hmmpanther:PTHR10454:SF137,hmmpanther:PTHR10454,PROSITE_patterns:PS01121,Pfam_domain:PF00656,Gene3D:3.40.50.1460,SMART_domains:SM00115,PIRSF_domain:PIRSF038001,Superfamily_domains:SSF52129,Prints_domain:PR00376		G/V		A	high	803/1414		getma.org/?cm=msa&ty=f&p=CASP5_HUMAN&rb=193&re=430&var=G268V	deleterious(0)	C9JF14_HUMAN				CASP5,missense_variant,p.Gly281Val,ENST00000393141,NM_004347.3,NM_001136112.1;CASP5,missense_variant,p.Gly268Val,ENST00000260315,;CASP5,missense_variant,p.Gly281Val,ENST00000526056,;CASP5,missense_variant,p.Gly210Val,ENST00000444749,NM_001136109.1;CASP5,missense_variant,p.Gly126Val,ENST00000418434,NM_001136110.1;CASP5,missense_variant,p.Gly126Val,ENST00000531367,;CASP5,3_prime_UTR_variant,,ENST00000393139,;CASP5,downstream_gene_variant,,ENST00000456094,;CASP5,3_prime_UTR_variant,,ENST00000456200,;CASP5,upstream_gene_variant,,ENST00000438448,;							MODERATE	803/1305	G268V	CASP5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260315		CCDS8328.2			1	
LONRF2	0	LGGM	GRCh37	2	100906806	100906806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	56	17	.	.	ENST00000393437.3:c.1834A>G	p.Ile612Val	p.I612V	ENST00000393437	NM_198461.3	612	Att/Gtt	0	1	1	UPI000152B4EF	0	NA	ENST00000393437		ENSG00000170500	24788		73	0.25		HGNC	p.I612V	rs778337457	LONRF2		SNV				9.63E-05			ENST00000393437	protein_coding	getma.org/?cm=var&var=hg19,2,100906806,T,C&fts=all		hmmpanther:PTHR23327,hmmpanther:PTHR23327:SF5,Pfam_domain:PF02190,SMART_domains:SM00464,Superfamily_domains:SSF88697		I/V		C	neutral	2474/13912		getma.org/?cm=msa&ty=f&p=LONF2_HUMAN&rb=537&re=734&var=I612V	tolerated(0.31)				YES	LONRF2,missense_variant,p.Ile612Val,ENST00000393437,NM_198461.3;LONRF2,missense_variant,p.Ile369Val,ENST00000409647,;							MODERATE	1834/2265	I612V	LONF2_HUMAN			Transcript		benign(0.015)	.	ENSP00000377086	8.24E-06	CCDS2046.2			1	
ZNF233	0	LGGM	GRCh37	19	44778799	44778799	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	28	17	.	.	ENST00000391958.2:c.1986delG	p.Leu662PhefsTer44	p.L662Ffs*44	ENST00000391958	NM_181756.2	662	ttG/tt	0	1	1	UPI000049DEBE	0		ENST00000391958		ENSG00000159915	30946		45			HGNC	p.L662fs	rs767620287,COSM1394421	ZNF233		deletion	-:0.4399					0,1	ENST00000391958	protein_coding			Low_complexity_(Seg):seg		L/X	-:0.1184	-		2113/2784				K7EN46_HUMAN			YES	ZNF233,frameshift_variant,p.Leu662PhefsTer44,ENST00000391958,NM_181756.2;ZNF233,frameshift_variant,p.Leu644PhefsTer?,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,;					0,1		HIGH	1986/2013		ZN233_HUMAN			Transcript			.	ENSP00000375820		CCDS33047.1			1	
DST	0	LGGM	GRCh37	6	56340947	56340947	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	47	18	.	.	ENST00000244364.6:c.13995G>C	p.Gln4665His	p.Q4665H	ENST00000244364	NM_015548.4	4665	caG/caC	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		65	2.725		HGNC	p.Q4665H		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56340947,C,G&fts=all		Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		Q/H		G	medium	14203/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=7029&re=7189&var=Q7077H		Q86T18_HUMAN			YES	DST,missense_variant,p.Gln7257His,ENST00000370754,;DST,missense_variant,p.Gln7079His,ENST00000370769,;DST,missense_variant,p.Gln6753His,ENST00000446842,;DST,missense_variant,p.Gln6968His,ENST00000361203,;DST,missense_variant,p.Gln4882His,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Gln4991His,ENST00000421834,;DST,missense_variant,p.Gln4665His,ENST00000244364,NM_015548.4;DST,splice_region_variant,,ENST00000312431,;DST,upstream_gene_variant,,ENST00000523943,;DST,downstream_gene_variant,,ENST00000517840,;DST,upstream_gene_variant,,ENST00000492944,;							MODERATE	13995/15516	Q7077H	DYST_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000244364		CCDS47443.1			1	
ADSL	0	LGGM	GRCh37	22	40754973	40754973	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	31	18	.	.	ENST00000216194.7:c.588G>A	p.Arg196=	p.R196=	ENST00000216194	NM_000026.2	196	cgG/cgA	0	1	1	UPI0000132AC7	0		ENST00000216194		ENSG00000239900	291		49			HGNC	p.R196R		ADSL		SNV			1				ENST00000342312	protein_coding			hmmpanther:PTHR11444,hmmpanther:PTHR11444:SF2,TIGRFAM_domain:TIGR00928,Gene3D:1.20.200.10,Pfam_domain:PF00206,Superfamily_domains:SSF48557		R		A		644/1993				B4DUM2_HUMAN			YES	ADSL,synonymous_variant,p.=,ENST00000216194,NM_000026.2;ADSL,synonymous_variant,p.=,ENST00000342312,NM_001123378.1;ADSL,synonymous_variant,p.=,ENST00000454266,;ADSL,non_coding_transcript_exon_variant,,ENST00000480775,;ADSL,non_coding_transcript_exon_variant,,ENST00000477111,;							LOW	588/1455		PUR8_HUMAN			Transcript			.	ENSP00000216194		CCDS14001.1			1	
APBA2	0	LGGM	GRCh37	15	29409324	29409324	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	17	18	.	.	ENST00000558402.1:c.2238G>A	p.Pro746=	p.P746=	ENST00000558402		746	ccG/ccA	0	1		UPI0000046798	0		ENST00000558259		ENSG00000034053	579		35			HGNC	p.P746P	rs751461137,COSM370434	APBA2		SNV						0,1	ENST00000558259	protein_coding			hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12		P		A		2445/3635	3.07E-05			H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN				APBA2,synonymous_variant,p.=,ENST00000558402,;APBA2,synonymous_variant,p.=,ENST00000558259,NM_005503.3;APBA2,synonymous_variant,p.=,ENST00000411764,NM_001130414.1;APBA2,synonymous_variant,p.=,ENST00000558330,;APBA2,synonymous_variant,p.=,ENST00000561069,;FAM189A1,downstream_gene_variant,,ENST00000261275,NM_015307.1;	0.000117				0,1		LOW	2238/2250		APBA2_HUMAN			Transcript			.	ENSP00000454171	2.47E-05	CCDS10022.1			1	
CLCN6	0	LGGM	GRCh37	1	11894014	11894014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	24	18	.	.	ENST00000346436.6:c.1453C>A	p.Pro485Thr	p.P485T	ENST00000346436	NM_001286.3	485	Cca/Aca	0	1	1	UPI000013F2D3	0	getma.org/pdb.php?prot=CLCN6_HUMAN&from=138&to=570&var=P485T	ENST00000346436		ENSG00000011021	2024		42	3.645		HGNC	p.P463T		CLCN6		SNV							ENST00000376487	protein_coding	getma.org/?cm=var&var=hg19,1,11894014,C,A&fts=all		Prints_domain:PR00762,Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69,Transmembrane_helices:TMhelix		P/T		A	high	1505/5583		getma.org/?cm=msa&ty=f&p=CLCN6_HUMAN&rb=138&re=570&var=P485T	deleterious(0.01)				YES	CLCN6,missense_variant,p.Pro485Thr,ENST00000346436,NM_001286.3;CLCN6,missense_variant,p.Pro463Thr,ENST00000376487,NM_001256959.1;CLCN6,missense_variant,p.Pro485Thr,ENST00000376496,;CLCN6,3_prime_UTR_variant,,ENST00000312413,;CLCN6,non_coding_transcript_exon_variant,,ENST00000494028,;CLCN6,downstream_gene_variant,,ENST00000376492,;							MODERATE	1453/2610	P485T	CLCN6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000234488		CCDS138.1			1	
OR10AG1	0	LGGM	GRCh37	11	55735160	55735160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	23	19	.	.	ENST00000312345.2:c.780G>T	p.Arg260Ser	p.R260S	ENST00000312345	NM_001005491.1	260	agG/agT	0	1	1	UPI000004B22B	0	NA	ENST00000312345		ENSG00000174970	19607		42	-0.75		HGNC	p.R260S		OR10AG1		SNV							ENST00000312345	protein_coding	getma.org/?cm=var&var=hg19,11,55735160,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF159,Superfamily_domains:SSF81321		R/S		A	neutral	831/1016		getma.org/?cm=msa&ty=f&p=O10AG_HUMAN&rb=130&re=274&var=R260S	deleterious(0.05)				YES	OR10AG1,missense_variant,p.Arg260Ser,ENST00000312345,NM_001005491.1;							MODERATE	780/906	R260S	O10AG_HUMAN			Transcript		benign(0.013)	.	ENSP00000311477		CCDS31514.1			1	
MTUS2	0	LGGM	GRCh37	13	29599420	29599420	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	40	19	.	.	ENST00000431530.3:c.615A>G	p.Pro205=	p.P205=	ENST00000431530	NM_001033602.2	205	ccA/ccG	0	1	1	UPI0000F734AC	0		ENST00000431530		ENSG00000132938	20595		59			HGNC	p.P205P		MTUS2		SNV							ENST00000431530	protein_coding			hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		P		G		673/4747				J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,synonymous_variant,p.=,ENST00000431530,NM_001033602.2;							LOW	615/4140					Transcript			.	ENSP00000392057		CCDS45022.1			1	
LLGL1	0	LGGM	GRCh37	17	18137114	18137114	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	38	20	.	.	ENST00000316843.4:c.415G>C	p.Val139Leu	p.V139L	ENST00000316843	NM_004140.3	139	Gtc/Ctc	0	1	1	UPI000049DE38	0	NA	ENST00000316843		ENSG00000131899	6628		58	1.345		HGNC	p.V139L		LLGL1		SNV							ENST00000316843	protein_coding	getma.org/?cm=var&var=hg19,17,18137114,G,C&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF21,Low_complexity_(Seg):seg		V/L		C	low	511/4260		getma.org/?cm=msa&ty=f&p=L2GL1_HUMAN&rb=1&re=200&var=V139L	tolerated(0.05)	A0PJG1_HUMAN			YES	LLGL1,missense_variant,p.Val139Leu,ENST00000316843,NM_004140.3;LLGL1,upstream_gene_variant,,ENST00000479155,;							MODERATE	415/3195	V139L	L2GL1_HUMAN			Transcript		benign(0.003)	.	ENSP00000321537		CCDS32586.1			1	
COBLL1	0	LGGM	GRCh37	2	165551464	165551464	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	41	20	.	.	ENST00000342193.4:c.2552G>A	p.Ser851Asn	p.S851N	ENST00000342193	NM_014900.4	851	aGc/aAc	0	1		UPI0000E82591	0	NA	ENST00000392717		ENSG00000082438	23571		61	1.935		HGNC	p.S889N	rs370445667	COBLL1		SNV	T:0						ENST00000392717	protein_coding	getma.org/?cm=var&var=hg19,2,165551464,C,T&fts=all		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2		S/N	T:0.0001	T	medium	2671/4749	1.50E-05	getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=807&re=1006&var=S889N	tolerated(0.14)	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN				COBLL1,missense_variant,p.Ser813Asn,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Ser851Asn,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Ser889Asn,ENST00000392717,;COBLL1,missense_variant,p.Ser851Asn,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Ser918Asn,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,;							MODERATE	2666/3615	S889N	COBL1_HUMAN			Transcript		benign(0.009)	.	ENSP00000376478	8.24E-06				1	
LAMB3	0	LGGM	GRCh37	1	209806446	209806446	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	62	21	.	.	ENST00000391911.1:c.597G>C	p.Gly199=	p.G199=	ENST00000391911	NM_001017402.1	199	ggG/ggC	0	1		UPI000012E76F	0		ENST00000356082		ENSG00000196878	6490		83			HGNC	p.G199G		LAMB3		SNV			1				ENST00000367030	protein_coding			Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF245,SMART_domains:SM00136		G		G		732/4055				Q5THA1_HUMAN				LAMB3,synonymous_variant,p.=,ENST00000391911,NM_001017402.1;LAMB3,synonymous_variant,p.=,ENST00000356082,NM_000228.2;LAMB3,synonymous_variant,p.=,ENST00000367030,NM_001127641.1;LAMB3,downstream_gene_variant,,ENST00000415782,;							LOW	597/3519		LAMB3_HUMAN			Transcript			.	ENSP00000348384		CCDS1487.1			1	
RSPH6A	0	LGGM	GRCh37	19	46318262	46318262	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	19	21	.	.	ENST00000221538.3:c.173C>T	p.Ser58Leu	p.S58L	ENST00000221538	NM_030785.3	58	tCa/tTa	0	1	1	UPI0000037C58	0	NA	ENST00000221538		ENSG00000104941	14241		40	0.805		HGNC	p.S58L		RSPH6A		SNV							ENST00000597055	protein_coding	getma.org/?cm=var&var=hg19,19,46318262,G,A&fts=all				S/L		A	low	316/2456		getma.org/?cm=msa&ty=f&p=RSH6A_HUMAN&rb=1&re=194&var=S58L	deleterious_low_confidence(0.03)	M0R103_HUMAN			YES	RSPH6A,missense_variant,p.Ser58Leu,ENST00000221538,NM_030785.3;RSPH6A,missense_variant,p.Ser58Leu,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,;							MODERATE	173/2154	S58L	RSH6A_HUMAN			Transcript		benign(0.215)	.	ENSP00000221538		CCDS12675.1			1	
REG1B	0	LGGM	GRCh37	2	79312681	79312681	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	41	21	.	.	ENST00000305089.3:c.370T>G	p.Trp124Gly	p.W124G	ENST00000305089	NM_006507.3	124	Tgg/Ggg	0	1	1	UPI00000012AB	0	getma.org/pdb.php?prot=REG1B_HUMAN&from=53&to=164&var=W124G	ENST00000305089		ENSG00000172023	9952		62	4.48		HGNC	p.W75G		REG1B		SNV							ENST00000454188	protein_coding	getma.org/?cm=var&var=hg19,2,79312681,A,C&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF31,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504		W/G		C	high	451/767		getma.org/?cm=msa&ty=f&p=REG1B_HUMAN&rb=53&re=164&var=W124G	deleterious(0)	Q6ICS1_HUMAN			YES	REG1B,missense_variant,p.Trp124Gly,ENST00000305089,NM_006507.3;REG1B,missense_variant,p.Trp75Gly,ENST00000454188,;REG1B,non_coding_transcript_exon_variant,,ENST00000479258,;REG1B,downstream_gene_variant,,ENST00000476554,;REG1B,downstream_gene_variant,,ENST00000469052,;							MODERATE	370/501	W124G	REG1B_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000303206		CCDS1963.1			1	
NCSTN	0	LGGM	GRCh37	1	160321971	160321971	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	41	21	.	.	ENST00000294785.5:c.971A>G	p.Asn324Ser	p.N324S	ENST00000294785	NM_015331.2	324	aAt/aGt	0	1	1	UPI0000042050	0	NA	ENST00000294785		ENSG00000162736	17091		62	2.63		HGNC	p.N324S		NCSTN		SNV			1				ENST00000294785	protein_coding	getma.org/?cm=var&var=hg19,1,160321971,A,G&fts=all		Gene3D:3.40.630.10,Pfam_domain:PF05450,hmmpanther:PTHR21092,hmmpanther:PTHR21092:SF0,Superfamily_domains:SSF53187		N/S		G	medium	1096/2936		getma.org/?cm=msa&ty=f&p=NICA_HUMAN&rb=274&re=499&var=N324S	deleterious(0.02)	E7ENA9_HUMAN			YES	NCSTN,missense_variant,p.Asn304Ser,ENST00000368063,;NCSTN,missense_variant,p.Asn324Ser,ENST00000294785,NM_015331.2;NCSTN,missense_variant,p.Asn304Ser,ENST00000392212,;NCSTN,missense_variant,p.Asn66Ser,ENST00000368065,;NCSTN,missense_variant,p.Asn160Ser,ENST00000424645,;NCSTN,missense_variant,p.Asn36Ser,ENST00000435149,;NCSTN,missense_variant,p.Asn68Ser,ENST00000424754,;NCSTN,intron_variant,,ENST00000535857,;NCSTN,intron_variant,,ENST00000421914,;NCSTN,downstream_gene_variant,,ENST00000438008,;NCSTN,downstream_gene_variant,,ENST00000437169,;NCSTN,non_coding_transcript_exon_variant,,ENST00000459963,;NCSTN,upstream_gene_variant,,ENST00000469159,;NCSTN,downstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000491390,;NCSTN,downstream_gene_variant,,ENST00000491332,;							MODERATE	971/2130	N324S	NICA_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000294785		CCDS1203.1			1	
SLC17A8	0	LGGM	GRCh37	12	100784839	100784839	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	42	23	.	.	ENST00000323346.5:c.415G>C	p.Gly139Arg	p.G139R	ENST00000323346	NM_001145288.1	139	Ggc/Cgc	0	1	1	UPI0000073B9B	0	NA	ENST00000323346		ENSG00000179520	20151		65	4.305		HGNC	p.G139R		SLC17A8		SNV			1				ENST00000392989	protein_coding	getma.org/?cm=var&var=hg19,12,100784839,G,C&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		G/R		C	high	728/3983		getma.org/?cm=msa&ty=f&p=VGLU3_HUMAN&rb=81&re=465&var=G139R	deleterious(0)				YES	SLC17A8,missense_variant,p.Gly139Arg,ENST00000323346,NM_001145288.1,NM_139319.2;SLC17A8,missense_variant,p.Gly139Arg,ENST00000392989,;							MODERATE	415/1770	G139R	VGLU3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000316909		CCDS9077.1			1	
ARMC4	0	LGGM	GRCh37	10	28149682	28149682	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	23	23	.	.	ENST00000305242.5:c.2893G>A	p.Val965Met	p.V965M	ENST00000305242	NM_018076.2	965	Gtg/Atg	0	1	1	UPI00001A95E1	0	getma.org/pdb.php?prot=ARMC4_HUMAN&from=923&to=1029&var=V965M	ENST00000305242		ENSG00000169126	25583		46	3.035		HGNC	p.V490M		ARMC4		SNV			1				ENST00000545014	protein_coding	getma.org/?cm=var&var=hg19,10,28149682,C,T&fts=all		PROSITE_profiles:PS50176,hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		V/M		T	medium	2986/3572		getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=923&re=1029&var=V965M	deleterious(0)	R4GN11_HUMAN,A8K906_HUMAN			YES	ARMC4,missense_variant,p.Val965Met,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Val657Met,ENST00000537576,;ARMC4,missense_variant,p.Val490Met,ENST00000545014,;							MODERATE	2893/3135	V965M	ARMC4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306410		CCDS7157.1			1	
ISY1-RAB43	0	LGGM	GRCh37	3	128878008	128878008	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	34	25	.	.	ENST00000273541.8:c.15A>G	p.Ala5=	p.A5=	ENST00000273541		5	gcA/gcG	0	1	1	UPI00005A60DB	0		ENST00000418265		ENSG00000261796	42969		59			HGNC	p.A5A		ISY1-RAB43		SNV							ENST00000393292	protein_coding			hmmpanther:PTHR13021,Pfam_domain:PF06246		A		C		76/4868				H9XFA1_HUMAN			YES	ISY1-RAB43,synonymous_variant,p.=,ENST00000418265,NM_001204890.1;ISY1,synonymous_variant,p.=,ENST00000393295,NM_001199469.1,NM_020701.3;ISY1,synonymous_variant,p.=,ENST00000273541,;ISY1,synonymous_variant,p.=,ENST00000393292,;RP11-434H6.7,downstream_gene_variant,,ENST00000609183,;ISY1,upstream_gene_variant,,ENST00000471497,;ISY1,synonymous_variant,p.=,ENST00000485703,;							LOW	15/996					Transcript			.	ENSP00000411822		CCDS56276.1			1	
ZNF546	0	LGGM	GRCh37	19	40519746	40519746	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	45	25	.	.	ENST00000347077.4:c.569T>C	p.Met190Thr	p.M190T	ENST00000347077	NM_178544.3	190	aTg/aCg	0	1	1	UPI00001984E3	0	NA	ENST00000347077		ENSG00000187187	28671		70	-0.695		HGNC	p.M190T		ZNF546		SNV							ENST00000347077	protein_coding	getma.org/?cm=var&var=hg19,19,40519746,T,C&fts=all		hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377		M/T		C	neutral	785/4553		getma.org/?cm=msa&ty=f&p=ZN546_HUMAN&rb=101&re=230&var=M190T	tolerated(0.43)	M0R292_HUMAN,M0QXR6_HUMAN			YES	ZNF546,missense_variant,p.Met190Thr,ENST00000347077,NM_178544.3;ZNF546,missense_variant,p.Met164Thr,ENST00000600094,;ZNF546,intron_variant,,ENST00000596894,;ZNF546,downstream_gene_variant,,ENST00000599504,;ZNF546,downstream_gene_variant,,ENST00000601138,;							MODERATE	569/2511	M190T	ZN546_HUMAN			Transcript		benign(0.042)	.	ENSP00000339823		CCDS12548.1			1	
ZNF541	0	LGGM	GRCh37	19	48052515	48052515	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	23	25	.	.	ENST00000314121.4:c.535C>G	p.Arg179Gly	p.R179G	ENST00000314121		179	Cgc/Ggc	0	1		UPI0000E5A21D	0	getma.org/pdb.php?prot=ZN541_HUMAN&from=154&to=179&var=R179G	ENST00000391901		ENSG00000118156	25294		48	1.395		HGNC	p.R179G		ZNF541		SNV							ENST00000314121	protein_coding	getma.org/?cm=var&var=hg19,19,48052515,G,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF23,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		R/G		C	low	535/4580		getma.org/?cm=msa&ty=f&p=ZN541_HUMAN&rb=134&re=199&var=R179G	deleterious(0)					ZNF541,missense_variant,p.Arg179Gly,ENST00000314121,;ZNF541,missense_variant,p.Arg179Gly,ENST00000391901,NM_001277075.1;ZNF541,missense_variant,p.Arg179Gly,ENST00000448976,;ZNF541,upstream_gene_variant,,ENST00000595558,;ZNF541,upstream_gene_variant,,ENST00000263351,;							MODERATE	535/4041	R179G	ZN541_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000375770		CCDS46133.2			1	
SPATS2L	0	LGGM	GRCh37	2	201281136	201281136	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	45	25	.	.	ENST00000358677.5:c.183G>T	p.Met61Ile	p.M61I	ENST00000358677	NM_015535.2	61	atG/atT	0	1	1	UPI0000D48A8E	0	NA	ENST00000358677		ENSG00000196141	24574		70	0.895		HGNC	p.M56I		SPATS2L		SNV							ENST00000438761	protein_coding	getma.org/?cm=var&var=hg19,2,201281136,G,T&fts=all		hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623,Pfam_domain:PF07139,Superfamily_domains:SSF46934		M/I		T	low	430/6156		getma.org/?cm=msa&ty=f&p=SPS2L_HUMAN&rb=59&re=368&var=M61I	tolerated(0.14)	F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN			YES	SPATS2L,start_lost,p.Met1?,ENST00000409385,;SPATS2L,missense_variant,p.Met61Ile,ENST00000358677,NM_015535.2,NM_001282744.1,NM_001282735.1,NM_001282743.1;SPATS2L,missense_variant,p.Met61Ile,ENST00000409988,NM_001100422.1;SPATS2L,missense_variant,p.Met61Ile,ENST00000409718,;SPATS2L,missense_variant,p.Met61Ile,ENST00000409140,NM_001100423.1;SPATS2L,missense_variant,p.Met61Ile,ENST00000451764,;SPATS2L,missense_variant,p.Met61Ile,ENST00000360760,NM_001100424.1;SPATS2L,missense_variant,p.Met69Ile,ENST00000409151,;SPATS2L,missense_variant,p.Met91Ile,ENST00000409755,;SPATS2L,missense_variant,p.Met61Ile,ENST00000409397,;SPATS2L,missense_variant,p.Met56Ile,ENST00000438761,;SPATS2L,missense_variant,p.Met61Ile,ENST00000457757,;SPATS2L,missense_variant,p.Met61Ile,ENST00000423749,;SPATS2L,missense_variant,p.Met61Ile,ENST00000449647,;SPATS2L,missense_variant,p.Met61Ile,ENST00000453663,;SPATS2L,missense_variant,p.Met61Ile,ENST00000421573,;SPATS2L,missense_variant,p.Met61Ile,ENST00000439084,;SPATS2L,missense_variant,p.Met61Ile,ENST00000439395,;SPATS2L,downstream_gene_variant,,ENST00000444012,;							MODERATE	183/1677	M61I	SPS2L_HUMAN			Transcript		benign(0.17)	.	ENSP00000351503		CCDS46483.1			1	
SMARCA4	0	LGGM	GRCh37	19	11144124	11144124	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	10	26	.	.	ENST00000344626.4:c.3705C>G	p.Asp1235Glu	p.D1235E	ENST00000344626	NM_003072.3	1235	gaC/gaG	0	1		UPI000006F973	0	NA	ENST00000344626		ENSG00000127616	11100		36	1.74		HGNC	p.D1235E		SMARCA4		SNV			1				ENST00000450717	protein_coding	getma.org/?cm=var&var=hg19,19,11144124,C,G&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF76,Superfamily_domains:SSF52540		D/E		G	low	3910/5392		getma.org/?cm=msa&ty=f&p=SMCA4_HUMAN&rb=1084&re=1246&var=D1235E		B4DSI8_HUMAN,A7E2E1_HUMAN				SMARCA4,missense_variant,p.Asp1235Glu,ENST00000358026,NM_001128849.1;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000429416,NM_001128844.1;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000344626,NM_003072.3;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000413806,NM_001128845.1,NM_001128847.1;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000450717,NM_001128846.1,NM_001128848.1;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000590574,;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000589677,;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000541122,;SMARCA4,missense_variant,p.Asp1235Glu,ENST00000444061,;SMARCA4,intron_variant,,ENST00000592158,;SMARCA4,non_coding_transcript_exon_variant,,ENST00000538456,;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,,ENST00000586892,;SMARCA4,downstream_gene_variant,,ENST00000591545,;							MODERATE	3705/4944	D1235E	SMCA4_HUMAN			Transcript		benign(0.405)	.	ENSP00000343896		CCDS12253.1			1	
RRP9	0	LGGM	GRCh37	3	51971209	51971209	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	28	26	.	.	ENST00000232888.6:c.516G>A	p.Lys172=	p.K172=	ENST00000232888	NM_004704.4	172	aaG/aaA	0	1	1	UPI000006F889	0		ENST00000232888		ENSG00000114767	16829		54			HGNC	p.K172K		RRP9		SNV							ENST00000232888	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19865,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		K		T		590/1578							YES	RRP9,splice_region_variant,p.=,ENST00000232888,NM_004704.4;							LOW	516/1428		U3IP2_HUMAN			Transcript			.	ENSP00000232888		CCDS2837.1			1	
GRIPAP1	0	LGGM	GRCh37	X	48839710	48839710	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	37	27	.	.	ENST00000376441.1:c.1415A>T	p.Glu472Val	p.E472V	ENST00000376441	NM_020137.3	472	gAg/gTg	0	1		UPI000035AC77	0	NA	ENST00000376423		ENSG00000068400	18706		64	0.805		HGNC	p.E472V		GRIPAP1		SNV							ENST00000376441	protein_coding	getma.org/?cm=var&var=hg19,X,48839710,T,A&fts=all		hmmpanther:PTHR18978,hmmpanther:PTHR18978:SF1,Coiled-coils_(Ncoils):Coil		E/V		A	low	1289/3255		getma.org/?cm=msa&ty=f&p=GRAP1_HUMAN&rb=331&re=589&var=E472V	deleterious(0)					GRIPAP1,missense_variant,p.Glu419Val,ENST00000376423,NM_207672.1;GRIPAP1,missense_variant,p.Glu472Val,ENST00000376441,NM_020137.3;GRIPAP1,missense_variant,p.Glu441Val,ENST00000376425,;GRIPAP1,missense_variant,p.Glu427Val,ENST00000376444,;GRIPAP1,non_coding_transcript_exon_variant,,ENST00000473581,;GRIPAP1,downstream_gene_variant,,ENST00000474512,;GRIPAP1,upstream_gene_variant,,ENST00000488361,;							MODERATE	1256/1878	E472V	GRAP1_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000365606					1	
TRAF3IP3	0	LGGM	GRCh37	1	209955486	209955486	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	26	27	.	.	ENST00000367024.1:c.1649T>C	p.Met550Thr	p.M550T	ENST00000367024		550	aTg/aCg	0	1	1	UPI00005190E1	0	NA	ENST00000367024		ENSG00000009790	30766		53	1.61		HGNC	p.M550T		TRAF3IP3		SNV							ENST00000367025	protein_coding	getma.org/?cm=var&var=hg19,1,209955486,T,C&fts=all		hmmpanther:PTHR18889,hmmpanther:PTHR18889:SF10		M/T		C	low	2165/2331		getma.org/?cm=msa&ty=f&p=T3JAM_HUMAN&rb=381&re=550&var=M550T	deleterious(0.01)	C9JXB3_HUMAN,C9J0C0_HUMAN			YES	TRAF3IP3,missense_variant,p.Met550Thr,ENST00000367024,;TRAF3IP3,missense_variant,p.Met550Thr,ENST00000367025,NM_025228.2;TRAF3IP3,missense_variant,p.Met530Thr,ENST00000367026,;TRAF3IP3,missense_variant,p.Met530Thr,ENST00000010338,;TRAF3IP3,3_prime_UTR_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,;RP3-434O14.8,downstream_gene_variant,,ENST00000430751,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000467830,;TRAF3IP3,non_coding_transcript_exon_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,;							MODERATE	1649/1656	M550T	T3JAM_HUMAN			Transcript		benign(0.05)	.	ENSP00000355991		CCDS1490.2			1	
WDR75	0	LGGM	GRCh37	2	190332300	190332300	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	61	28	.	.	ENST00000314761.4:c.1554G>A	p.Glu518=	p.E518=	ENST00000314761	NM_032168.1	518	gaG/gaA	0	1	1	UPI000007452C	0		ENST00000314761		ENSG00000115368	25725		89			HGNC	p.E518E		WDR75		SNV							ENST00000314761	protein_coding			Superfamily_domains:SSF50998,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF359		E		A		1614/2701				Q05D27_HUMAN,A8K330_HUMAN			YES	WDR75,synonymous_variant,p.=,ENST00000314761,NM_032168.1;WDR75,3_prime_UTR_variant,,ENST00000427960,;WDR75,3_prime_UTR_variant,,ENST00000436347,;WDR75,downstream_gene_variant,,ENST00000498365,;							LOW	1554/2493		WDR75_HUMAN			Transcript			.	ENSP00000314193		CCDS2298.1			1	
CCDC125	0	LGGM	GRCh37	5	68609837	68609837	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	62	28	.	.	ENST00000396496.2:c.341G>C	p.Arg114Thr	p.R114T	ENST00000396496		114	aGg/aCg	0	1	1	UPI00004572F8	0	NA	ENST00000396496		ENSG00000183323	28924		90	0.805		HGNC	p.R113T		CCDC125		SNV							ENST00000383374	protein_coding	getma.org/?cm=var&var=hg19,5,68609837,C,G&fts=all		Coiled-coils_(Ncoils):Coil		R/T		G	low	449/4198		getma.org/?cm=msa&ty=f&p=CC125_HUMAN&rb=103&re=178&var=R114T	deleterious(0)				YES	CCDC125,missense_variant,p.Arg114Thr,ENST00000396496,;CCDC125,missense_variant,p.Arg114Thr,ENST00000396499,NM_176816.3;CCDC125,missense_variant,p.Arg113Thr,ENST00000383374,;CCDC125,5_prime_UTR_variant,,ENST00000511257,;CCDC125,non_coding_transcript_exon_variant,,ENST00000513172,;CCDC125,intron_variant,,ENST00000460090,;CCDC125,intron_variant,,ENST00000512045,;CFL1P5,upstream_gene_variant,,ENST00000508046,;							MODERATE	341/1536	R114T	CC125_HUMAN			Transcript		possibly_damaging(0.556)	.	ENSP00000379754		CCDS4000.1			1	
GABRR1	0	LGGM	GRCh37	6	89891775	89891775	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	21	29	.	.	ENST00000454853.2:c.798C>T	p.Gly266=	p.G266=	ENST00000454853	NM_001256704.1	266	ggC/ggT	0	1	1	UPI0000D4AF7D	0		ENST00000454853		ENSG00000146276	4090		50			HGNC	p.G249G		GABRR1		SNV							ENST00000435811	protein_coding			Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF30,TIGRFAM_domain:TIGR00860		G		A		909/2820							YES	GABRR1,splice_region_variant,p.=,ENST00000435811,NM_001256703.1;GABRR1,splice_region_variant,p.=,ENST00000454853,NM_001256704.1,NM_002042.4;GABRR1,splice_region_variant,p.=,ENST00000369451,NM_001267582.1;GABRR1,splice_region_variant,,ENST00000457434,;							LOW	798/1440		GBRR1_HUMAN			Transcript			.	ENSP00000412673		CCDS5019.2			1	
NPAS3	0	LGGM	GRCh37	14	33684528	33684528	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	39	30	.	.	ENST00000356141.4:c.281T>C	p.Ile94Thr	p.I94T	ENST00000356141		94	aTt/aCt	0	1	1	UPI00000743C2	0	NA	ENST00000356141		ENSG00000151322	19311		69	2.615		HGNC	p.I64T		NPAS3		SNV							ENST00000357798	protein_coding	getma.org/?cm=var&var=hg19,14,33684528,T,C&fts=all		PROSITE_profiles:PS50888,hmmpanther:PTHR23043:SF21,hmmpanther:PTHR23043,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459		I/T		C	medium	281/2802		getma.org/?cm=msa&ty=f&p=NPAS3_HUMAN&rb=69&re=105&var=I94T	deleterious(0)				YES	NPAS3,missense_variant,p.Ile64Thr,ENST00000346562,NM_022123.2,NM_173159.2,NM_001164749.1,NM_001165893.1;NPAS3,missense_variant,p.Ile64Thr,ENST00000548645,;NPAS3,missense_variant,p.Ile101Thr,ENST00000551492,;NPAS3,missense_variant,p.Ile94Thr,ENST00000356141,;NPAS3,missense_variant,p.Ile64Thr,ENST00000357798,;NPAS3,missense_variant,p.Ile71Thr,ENST00000551634,;NPAS3,missense_variant,p.Ile94Thr,ENST00000341321,;NPAS3,missense_variant,p.Ile4Thr,ENST00000546849,;NPAS3,5_prime_UTR_variant,,ENST00000547068,;NPAS3,5_prime_UTR_variant,,ENST00000551008,;NPAS3,non_coding_transcript_exon_variant,,ENST00000549770,;							MODERATE	281/2802	I94T	NPAS3_HUMAN			Transcript		benign(0.152)	.	ENSP00000348460		CCDS53891.1			1	
DNAH8	0	LGGM	GRCh37	6	38810443	38810443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	36	31	.	.	ENST00000359357.3:c.3958C>A	p.Arg1320Ser	p.R1320S	ENST00000359357		1320	Cgt/Agt	0	1	1	UPI00003677EB	0	NA	ENST00000359357		ENSG00000124721	2952		67	2.66		HGNC	p.R1320S		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38810443,C,A&fts=all		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		R/S		A	medium	4212/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1266&re=1678&var=R1320S					YES	DNAH8,missense_variant,p.Arg1525Ser,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Arg1320Ser,ENST00000359357,;DNAH8,missense_variant,p.Arg1320Ser,ENST00000441566,;DNAH8,missense_variant,p.Arg1537Ser,ENST00000449981,;							MODERATE	3958/13473	R1320S	DYH8_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000352312					1	
PCDHA10	0	LGGM	GRCh37	5	140236765	140236765	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	42	32	.	.	ENST00000307360.5:c.1132T>A	p.Ser378Thr	p.S378T	ENST00000307360	NM_018901.2	378	Tca/Aca	0	1	1	UPI00001273D3	0	getma.org/pdb.php?prot=PCDAA_HUMAN&from=354&to=445&var=S378T	ENST00000307360		ENSG00000250120	8664		74	1.965		HGNC	p.S378T		PCDHA10		SNV							ENST00000506939	protein_coding	getma.org/?cm=var&var=hg19,5,140236765,T,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		S/T		A	medium	1132/5254		getma.org/?cm=msa&ty=f&p=PCDAA_HUMAN&rb=354&re=445&var=S378T	deleterious_low_confidence(0.02)				YES	PCDHA10,missense_variant,p.Ser378Thr,ENST00000307360,NM_018901.2;PCDHA10,missense_variant,p.Ser378Thr,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;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,downstream_gene_variant,,ENST00000378122,NM_014005.3;AC005609.1,downstream_gene_variant,,ENST00000502505,;PCDHA14,upstream_gene_variant,,ENST00000506751,;							MODERATE	1132/2847	S378T	PCDAA_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000304234		CCDS54921.1			1	
RTTN	0	LGGM	GRCh37	18	67843988	67843988	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	65	36	.	.	ENST00000255674.6:c.1399G>A	p.Val467Met	p.V467M	ENST00000255674	NM_173630.3	467	Gtg/Atg	0	1	1	UPI0000201E92	0	NA	ENST00000255674		ENSG00000176225	18654		101	1.995		HGNC	p.V467M		RTTN		SNV			1				ENST00000255674	protein_coding	getma.org/?cm=var&var=hg19,18,67843988,C,T&fts=all		hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691		V/M		T	medium	1686/7326		getma.org/?cm=msa&ty=f&p=RTTN_HUMAN&rb=2&re=2221&var=V467M	deleterious(0.05)				YES	RTTN,missense_variant,p.Val467Met,ENST00000255674,NM_173630.3;RTTN,missense_variant,p.Val467Met,ENST00000454359,;RTTN,missense_variant,p.Val467Met,ENST00000437017,;RTTN,upstream_gene_variant,,ENST00000584659,;RTTN,missense_variant,p.Val467Met,ENST00000581161,;RTTN,missense_variant,p.Val257Met,ENST00000583043,;RTTN,non_coding_transcript_exon_variant,,ENST00000581583,;							MODERATE	1399/6681	V467M	RTTN_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000255674		CCDS42443.1			1	
CDK18	0	LGGM	GRCh37	1	205493397	205493397	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	36	37	.	.	ENST00000506784.1:c.401G>T	p.Arg134Leu	p.R134L	ENST00000506784		134	cGc/cTc	0	1	1	UPI000035030C	0	NA	ENST00000506784		ENSG00000117266	8751		73	2.54		HGNC	p.R134L		CDK18		SNV							ENST00000506784	protein_coding	getma.org/?cm=var&var=hg19,1,205493397,G,T&fts=all		hmmpanther:PTHR24056:SF52,hmmpanther:PTHR24056		R/L		T	medium	621/2143		getma.org/?cm=msa&ty=f&p=CDK18_HUMAN&rb=1&re=141&var=R102L	deleterious(0)	Q9BWF9_HUMAN,E9PMF2_HUMAN,D6RGH0_HUMAN,B4DHU6_HUMAN,B3KX76_HUMAN			YES	CDK18,missense_variant,p.Arg104Leu,ENST00000360066,NM_212503.2,NM_002596.3,NM_212502.2;CDK18,missense_variant,p.Arg134Leu,ENST00000506784,;CDK18,missense_variant,p.Arg104Leu,ENST00000429964,;CDK18,missense_variant,p.Arg134Leu,ENST00000419301,;CDK18,missense_variant,p.Arg15Leu,ENST00000478560,;CDK18,missense_variant,p.Arg113Leu,ENST00000443813,;CDK18,missense_variant,p.Arg45Leu,ENST00000506215,;CDK18,non_coding_transcript_exon_variant,,ENST00000505932,;CDK18,intron_variant,,ENST00000509056,;CDK18,upstream_gene_variant,,ENST00000484080,;CDK18,upstream_gene_variant,,ENST00000512008,;CDK18,upstream_gene_variant,,ENST00000506489,;CDK18,upstream_gene_variant,,ENST00000515514,;CDK18,upstream_gene_variant,,ENST00000468954,;CDK18,downstream_gene_variant,,ENST00000507240,;CDK18,downstream_gene_variant,,ENST00000507067,;CDK18,3_prime_UTR_variant,,ENST00000515494,;CDK18,3_prime_UTR_variant,,ENST00000504648,;CDK18,3_prime_UTR_variant,,ENST00000512922,;CDK18,3_prime_UTR_variant,,ENST00000462976,;CDK18,non_coding_transcript_exon_variant,,ENST00000476153,;CDK18,upstream_gene_variant,,ENST00000489617,;CDK18,upstream_gene_variant,,ENST00000504162,;							MODERATE	401/1515	R102L	CDK18_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000423665		CCDS1454.1			1	
PCDHGB6	0	LGGM	GRCh37	5	140787990	140787990	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091831	H091831N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	47	38	.	.	ENST00000520790.1:c.221A>T	p.His74Leu	p.H74L	ENST00000520790	NM_018926.2	74	cAc/cTc	0	1	1	UPI000006EB47	0	getma.org/pdb.php?prot=PCDGI_HUMAN&from=31&to=112&var=H74L	ENST00000520790		ENSG00000253305	8713		85	-0.7		HGNC	p.H74L		PCDHGB6		SNV							ENST00000520790	protein_coding	getma.org/?cm=var&var=hg19,5,140787990,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF66,SMART_domains:SM00112,Superfamily_domains:SSF49313		H/L		T	neutral	221/4599		getma.org/?cm=msa&ty=f&p=PCDGI_HUMAN&rb=31&re=112&var=H74L	tolerated(0.33)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB6,missense_variant,p.His74Leu,ENST00000520790,NM_018926.2,NM_032100.1;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;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;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;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;PCDHGA10,upstream_gene_variant,,ENST00000398610,NM_018913.2,NM_032090.1;							MODERATE	221/2793	H74L	PCDGI_HUMAN			Transcript		benign(0.006)	.	ENSP00000428603		CCDS54929.1			1	
ZNF334	0	LGGM	GRCh37	20	45130618	45130618	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	58	42	.	.	ENST00000347606.4:c.1360A>G	p.Thr454Ala	p.T454A	ENST00000347606	NM_018102.4	454	Act/Gct	0	1	1	UPI000004A0FE	0	getma.org/pdb.php?prot=ZN334_HUMAN&from=442&to=460&var=T454A	ENST00000347606		ENSG00000198185	15806		100	0.79		HGNC	p.T454A		ZNF334		SNV							ENST00000347606	protein_coding	getma.org/?cm=var&var=hg19,20,45130618,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF116,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/A		C	neutral	1543/2430		getma.org/?cm=msa&ty=f&p=ZN334_HUMAN&rb=412&re=490&var=T454A	tolerated(0.07)	M0R3E1_HUMAN			YES	ZNF334,missense_variant,p.Thr416Ala,ENST00000457685,;ZNF334,missense_variant,p.Thr477Ala,ENST00000593880,;ZNF334,missense_variant,p.Thr454Ala,ENST00000347606,NM_018102.4;ZNF334,downstream_gene_variant,,ENST00000596323,;							MODERATE	1360/2043	T454A	ZN334_HUMAN			Transcript		benign(0.008)	.	ENSP00000255129		CCDS33480.1			1	
SIMC1	0	LGGM	GRCh37	5	175772209	175772209	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	79	44	.	.	ENST00000341199.6:c.1135G>A	p.Asp379Asn	p.D379N	ENST00000341199	NM_198567.4	379	Gac/Aac	0	1		UPI000013E866	0	NA	ENST00000443967		ENSG00000170085	24779		123	1.445		HGNC	p.D379N	rs756267817	SIMC1		SNV							ENST00000430704	protein_coding	getma.org/?cm=var&var=hg19,5,175772209,G,A&fts=all		hmmpanther:PTHR23187,hmmpanther:PTHR23187:SF3,Low_complexity_(Seg):seg		D/N		A	low	2787/3572	9.01E-05	getma.org/?cm=msa&ty=f&p=CE025_HUMAN&rb=24&re=870&var=D794N	deleterious(0.03)					SIMC1,missense_variant,p.Asp794Asn,ENST00000443967,;SIMC1,missense_variant,p.Asp379Asn,ENST00000341199,NM_198567.4;SIMC1,missense_variant,p.Asp379Asn,ENST00000430704,;SIMC1,missense_variant,p.Asp255Asn,ENST00000332772,;KIAA1191,downstream_gene_variant,,ENST00000298569,NM_020444.3,NM_001287336.1,NM_001287335.1;KIAA1191,downstream_gene_variant,,ENST00000393725,NM_001079684.1;KIAA1191,downstream_gene_variant,,ENST00000510164,NM_001079685.1;KIAA1191,downstream_gene_variant,,ENST00000533553,;RP11-843P14.2,upstream_gene_variant,,ENST00000508187,;KIAA1191,downstream_gene_variant,,ENST00000393728,;							MODERATE	2380/2619	D794N	SIMC1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000406571	4.94E-05				1	
AKR1C2	0	LGGM	GRCh37	10	5045991	5045991	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091831	H091831N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	65	44	.	.	ENST00000380753.4:c.37G>A	p.Gly13Ser	p.G13S	ENST00000380753	NM_205845.2	13	Ggt/Agt	0	1	1	UPI0000111D9F	0	getma.org/pdb.php?prot=AK1C2_HUMAN&from=1&to=17&var=G13S	ENST00000380753		ENSG00000151632	385		109	3.325		HGNC	p.G13S		AKR1C2		SNV			1				ENST00000380753	protein_coding	getma.org/?cm=var&var=hg19,10,5045991,C,T&fts=all		Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732		G/S		T	medium	225/3381		getma.org/?cm=msa&ty=f&p=AK1C2_HUMAN&rb=1&re=47&var=G13S	deleterious(0.03)	S4R3P0_HUMAN			YES	AKR1C2,missense_variant,p.Gly13Ser,ENST00000380753,NM_205845.2;AKR1C2,missense_variant,p.Gly13Ser,ENST00000407674,NM_001354.5;AKR1C2,missense_variant,p.Gly13Ser,ENST00000421196,;AKR1C2,missense_variant,p.Gly13Ser,ENST00000455190,NM_001135241.2;AKR1C2,missense_variant,p.Gly13Ser,ENST00000604507,;U8,upstream_gene_variant,,ENST00000459141,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000604184,;AKR1C2,downstream_gene_variant,,ENST00000604428,;AKR1C2,downstream_gene_variant,,ENST00000604711,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000460124,;							MODERATE	37/972	G13S	AK1C2_HUMAN			Transcript		possibly_damaging(0.615)	.	ENSP00000370129		CCDS7062.1			1	
RYR2	0	LGGM	GRCh37	1	237540665	237540665	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	79	46	.	.	ENST00000366574.2:c.506G>T	p.Arg169Leu	p.R169L	ENST00000366574	NM_001035.2	169	cGa/cTa	0	1	1	UPI0000DD0308	0	getma.org/pdb.php?prot=RYR2_HUMAN&from=9&to=223&var=R169L	ENST00000366574		ENSG00000198626	10484		125	2.885		HGNC	p.R153L		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237540665,G,T&fts=all		Gene3D:2.80.10.50,Pfam_domain:PF08709,Prints_domain:PR00795,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF82109		R/L		T	medium	823/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=9&re=223&var=R169L		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Arg169Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Arg153Leu,ENST00000542537,;RYR2,missense_variant,p.Arg167Leu,ENST00000360064,;							MODERATE	506/14904	R169L	RYR2_HUMAN			Transcript		benign(0.007)	.	ENSP00000355533		CCDS55691.1			1	
SCN10A	0	LGGM	GRCh37	3	38835243	38835243	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091831	H091831N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	66	54	.	.	ENST00000449082.2:c.259A>T	p.Ser87Cys	p.S87C	ENST00000449082	NM_006514.2	87	Agc/Tgc	0	1	1	UPI0000209BDA	0	NA	ENST00000449082		ENSG00000185313	10582		120	1.845		HGNC	p.S87C		SCN10A		SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38835243,T,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23		S/C		A	low	259/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1&re=154&var=S87C	tolerated(0.05)				YES	SCN10A,missense_variant,p.Ser87Cys,ENST00000449082,NM_006514.2;							MODERATE	259/5871	S87C	SCNAA_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000390600		CCDS33736.1			1	
USP46	0	LGGM	GRCh37	4	53492259	53492259	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	92	59	.	.	ENST00000441222.3:c.487C>T	p.Pro163Ser	p.P163S	ENST00000441222	NM_022832.3	163	Cca/Tca	0	1	1	UPI0000006C18	0	getma.org/pdb.php?prot=UBP46_HUMAN&from=32&to=362&var=P163S	ENST00000441222		ENSG00000109189	20075		151	1.05		HGNC	p.P156S		USP46		SNV							ENST00000508499	protein_coding	getma.org/?cm=var&var=hg19,4,53492259,G,A&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24619,hmmpanther:PTHR24619:SF120,Superfamily_domains:SSF54001		P/S		A	low	672/7954		getma.org/?cm=msa&ty=f&p=UBP46_HUMAN&rb=32&re=362&var=P163S	tolerated(0.15)				YES	USP46,missense_variant,p.Pro163Ser,ENST00000441222,NM_022832.3,NM_001286767.1;USP46,missense_variant,p.Pro136Ser,ENST00000451218,;USP46,missense_variant,p.Pro156Ser,ENST00000508499,NM_001134223.1;USP46,downstream_gene_variant,,ENST00000506707,;USP46,3_prime_UTR_variant,,ENST00000503060,;USP46,3_prime_UTR_variant,,ENST00000514536,;USP46,downstream_gene_variant,,ENST00000502443,;USP46,downstream_gene_variant,,ENST00000512656,;							MODERATE	487/1101	P163S	UBP46_HUMAN			Transcript		benign(0.001)	.	ENSP00000407818		CCDS47053.1			1	
IGHV3-66	0	LGGM	GRCh37	14	107131115	107131115	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	144	71	.	.	ENST00000390632.2:c.266C>G	p.Ser89Cys	p.S89C	ENST00000390632		89	tCc/tGc	0	1	1	UPI000011AAC3	0		ENST00000390632		ENSG00000211972	5619		215			HGNC	p.S89C		IGHV3-66		SNV							ENST00000390632	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		S/C		C		345/427			deleterious_low_confidence(0)				YES	IGHV3-66,missense_variant,p.Ser89Cys,ENST00000390632,;IGHVII-65-1,upstream_gene_variant,,ENST00000519992,;							MODERATE	266/348					Transcript		probably_damaging(1)	.	ENSP00000375041					1	
PSG4	0	LGGM	GRCh37	19	43699270	43699270	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	145	94	.	.	ENST00000405312.3:c.865C>T	p.Pro289Ser	p.P289S	ENST00000405312	NM_002780.4	289	Ccc/Tcc	0	1	1	UPI000034ECBA	0	getma.org/pdb.php?prot=PSG4_HUMAN&from=237&to=328&var=P289S	ENST00000405312		ENSG00000243137	9521		239	-2.355		HGNC	p.P167S		PSG4		SNV							ENST00000596907	protein_coding	getma.org/?cm=var&var=hg19,19,43699270,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF105,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/S		A	neutral	1103/2168		getma.org/?cm=msa&ty=f&p=PSG4_HUMAN&rb=237&re=328&var=P289S	tolerated(0.35)	M0QYU2_HUMAN			YES	PSG4,missense_variant,p.Pro289Ser,ENST00000405312,NM_002780.4;PSG4,missense_variant,p.Pro196Ser,ENST00000433626,NM_001276495.1;PSG4,missense_variant,p.Pro167Ser,ENST00000596907,;PSG4,missense_variant,p.Pro81Ser,ENST00000597374,;PSG4,missense_variant,p.Pro175Ser,ENST00000599746,;PSG4,intron_variant,,ENST00000244295,NM_213633.2;PSG4,intron_variant,,ENST00000599391,;PSG4,downstream_gene_variant,,ENST00000451895,;PSG4,downstream_gene_variant,,ENST00000599371,;PSG4,downstream_gene_variant,,ENST00000600572,;PSG4,3_prime_UTR_variant,,ENST00000595949,;PSG4,3_prime_UTR_variant,,ENST00000601041,;PSG4,non_coding_transcript_exon_variant,,ENST00000597349,;PSG4,upstream_gene_variant,,ENST00000490769,;PSG4,downstream_gene_variant,,ENST00000495316,;PSG4,downstream_gene_variant,,ENST00000596199,;							MODERATE	865/1260	P289S	PSG4_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000384770		CCDS46093.1			1	
HSPBP1	0	LGGM	GRCh37	19	55790896	55790897	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CCGCCGCC	novel	by Submitter	H091867	H091867N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	8	5	.	.	ENST00000255631.5:c.80_81insGGCGGCGG	p.Gly28AlafsTer43	p.G28Afs*43	ENST00000255631	NM_012267.4	27	ggc/ggGGCGGCGGc	0	1	1	UPI0000074015	0		ENST00000255631		ENSG00000133265	24989		13			HGNC	p.G27fs		HSPBP1		insertion							ENST00000588971	protein_coding			hmmpanther:PTHR19316:SF18,hmmpanther:PTHR19316,Low_complexity_(Seg):seg		G/GAAX		CCGCCGCC		391-392/1768				K7ERT9_HUMAN,K7EQQ0_HUMAN,K7EN20_HUMAN,K7EL16_HUMAN,K7EKM6_HUMAN			YES	HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000255631,NM_012267.4,NM_001130106.1;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000433386,;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000587922,;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000376343,;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000593263,;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000588971,;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000585927,;HSPBP1,frameshift_variant,p.Gly28AlafsTer43,ENST00000585698,;HSPBP1,frameshift_variant,p.Gly28AlafsTer?,ENST00000587551,;HSPBP1,intron_variant,,ENST00000587959,;BRSK1,upstream_gene_variant,,ENST00000309383,NM_032430.1;BRSK1,upstream_gene_variant,,ENST00000590333,;BRSK1,upstream_gene_variant,,ENST00000585418,;BRSK1,upstream_gene_variant,,ENST00000592539,;							HIGH	80-81/1080		HPBP1_HUMAN			Transcript			.	ENSP00000255631		CCDS33111.1			1	
ERCC2	0	LGGM	GRCh37	19	45871891	45871891	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	7	2	.	.	ENST00000391945.4:c.357T>A	p.Pro119=	p.P119=	ENST00000391945	NM_000400.3	119	ccT/ccA	0	1	1	UPI0000139012	0		ENST00000391945		ENSG00000104884	3434		9			HGNC	p.P119P		ERCC2		SNV			1				ENST00000591309	protein_coding			PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Pfam_domain:PF06733,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488		P		T		435/4153				K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,synonymous_variant,p.=,ENST00000391945,NM_000400.3;ERCC2,synonymous_variant,p.=,ENST00000391941,;ERCC2,synonymous_variant,p.=,ENST00000391944,;ERCC2,synonymous_variant,p.=,ENST00000485403,NM_001130867.1;ERCC2,synonymous_variant,p.=,ENST00000391940,;ERCC2,synonymous_variant,p.=,ENST00000586131,;ERCC2,synonymous_variant,p.=,ENST00000221481,;ERCC2,synonymous_variant,p.=,ENST00000586856,;ERCC2,synonymous_variant,p.=,ENST00000591309,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586441,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586737,;ERCC2,upstream_gene_variant,,ENST00000587376,;							LOW	357/2283		ERCC2_HUMAN			Transcript			.	ENSP00000375809		CCDS33049.1			1	
ZNF471	0	LGGM	GRCh37	19	57029918	57029918	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	10	2	.	.	ENST00000308031.5:c.228G>T	p.Thr76=	p.T76=	ENST00000308031	NM_020813.2	76	acG/acT	0	1	1	UPI0000073465	0		ENST00000308031		ENSG00000196263	23226		12			HGNC	p.T76T		ZNF471		SNV							ENST00000591537	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF212		T		T		361/6287				K7EPX1_HUMAN			YES	ZNF471,synonymous_variant,p.=,ENST00000308031,NM_020813.2;ZNF471,synonymous_variant,p.=,ENST00000591537,;ZNF471,synonymous_variant,p.=,ENST00000591759,;ZNF471,intron_variant,,ENST00000593197,;							LOW	228/1881		ZN471_HUMAN			Transcript			.	ENSP00000309161		CCDS12945.1			1	
GPR124	0	LGGM	GRCh37	8	37692770	37692770	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	12	2	.	.	ENST00000412232.2:c.1687A>G	p.Arg563Gly	p.R563G	ENST00000412232	NM_032777.9	563	Agg/Ggg	0	1	1	UPI00004AE50D	0	NA	ENST00000412232		ENSG00000020181	17849		14	1.245		HGNC	p.R563G		GPR124		SNV							ENST00000412232	protein_coding	getma.org/?cm=var&var=hg19,8,37692770,A,G&fts=all		hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011		R/G		G	low	1700/5651		getma.org/?cm=msa&ty=f&p=GP124_HUMAN&rb=421&re=620&var=R563G	deleterious(0)				YES	GPR124,missense_variant,p.Arg563Gly,ENST00000412232,NM_032777.9;GPR124,intron_variant,,ENST00000315215,;							MODERATE	1687/4017	R563G	GP124_HUMAN			Transcript		benign(0.018)	.	ENSP00000406367		CCDS6097.2			1	
ATP4A	0	LGGM	GRCh37	19	36042391	36042391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	7	2	.	.	ENST00000262623.3:c.2843G>A	p.Arg948His	p.R948H	ENST00000262623	NM_000704.2	948	cGc/cAc	0	1	1	UPI000016A49B	0	getma.org/pdb.php?prot=ATP4A_HUMAN&from=810&to=1020&var=R948H	ENST00000262623		ENSG00000105675	819		9	2.35		HGNC	p.R948H		ATP4A		SNV							ENST00000262623	protein_coding	getma.org/?cm=var&var=hg19,19,36042391,C,T&fts=all		Superfamily_domains:0049473,TIGRFAM_domain:TIGR01106,Pfam_domain:PF00689,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251		R/H		T	medium	2872/3709		getma.org/?cm=msa&ty=f&p=ATP4A_HUMAN&rb=810&re=1020&var=R948H	deleterious(0.01)				YES	ATP4A,missense_variant,p.Arg948His,ENST00000262623,NM_000704.2;TMEM147,downstream_gene_variant,,ENST00000392204,NM_001242597.1;TMEM147,downstream_gene_variant,,ENST00000222284,NM_032635.3;TMEM147,downstream_gene_variant,,ENST00000392205,;ATP4A,non_coding_transcript_exon_variant,,ENST00000592131,;TMEM147,downstream_gene_variant,,ENST00000595467,;TMEM147,downstream_gene_variant,,ENST00000599895,;TMEM147,downstream_gene_variant,,ENST00000477168,;TMEM147,downstream_gene_variant,,ENST00000593027,NM_001242598.1;ATP4A,downstream_gene_variant,,ENST00000592767,;TMEM147,downstream_gene_variant,,ENST00000595180,;							MODERATE	2843/3108	R948H	ATP4A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262623		CCDS12467.1			1	
TM9SF4	0	LGGM	GRCh37	20	30749077	30749077	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	11	3	.	.	ENST00000398022.2:c.1690-2A>T		p.X564_splice	ENST00000398022	NM_014742.3			0	1	1	UPI0000206163	0		ENST00000398022		ENSG00000101337	30797		14			HGNC	-		TM9SF4		SNV							ENST00000398022	protein_coding							T		-/3978				B4DH88_HUMAN			YES	TM9SF4,splice_acceptor_variant,,ENST00000217315,;TM9SF4,splice_acceptor_variant,,ENST00000398022,NM_014742.3;TM9SF4,splice_acceptor_variant,,ENST00000495749,;TM9SF4,non_coding_transcript_exon_variant,,ENST00000479591,;							HIGH	1690/1929		TM9S4_HUMAN			Transcript			.	ENSP00000381104		CCDS13196.2			1	
STARD3	0	LGGM	GRCh37	17	37815763	37815763	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	6	3	.	.	ENST00000336308.5:c.752A>C	p.Gln251Pro	p.Q251P	ENST00000336308	NM_006804.3	251	cAg/cCg	0	1	1	UPI000013CE10	0	getma.org/pdb.php?prot=STAR3_HUMAN&from=239&to=444&var=Q251P	ENST00000336308		ENSG00000131748	17579		9	1.995		HGNC	p.Q251P		STARD3		SNV							ENST00000544210	protein_coding	getma.org/?cm=var&var=hg19,17,37815763,A,C&fts=all		Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF51,SMART_domains:SM00234,Superfamily_domains:SSF55961		Q/P		C	medium	970/2132		getma.org/?cm=msa&ty=f&p=STAR3_HUMAN&rb=239&re=444&var=Q251P	deleterious(0.02)	J3QRG8_HUMAN,J3QLS1_HUMAN,J3KT87_HUMAN,J3KSL3_HUMAN,J3KSH0_HUMAN,C9J555_HUMAN,B3KVT4_HUMAN			YES	STARD3,missense_variant,p.Gln251Pro,ENST00000336308,NM_006804.3,NM_001165937.1;STARD3,missense_variant,p.Gln225Pro,ENST00000580611,;STARD3,missense_variant,p.Gln233Pro,ENST00000394250,NM_001165938.1;STARD3,missense_variant,p.Gln251Pro,ENST00000544210,;TCAP,upstream_gene_variant,,ENST00000309889,;STARD3,downstream_gene_variant,,ENST00000443521,;STARD3,downstream_gene_variant,,ENST00000581894,;STARD3,downstream_gene_variant,,ENST00000583419,;STARD3,downstream_gene_variant,,ENST00000577248,;STARD3,downstream_gene_variant,,ENST00000579479,;STARD3,downstream_gene_variant,,ENST00000580331,;STARD3,downstream_gene_variant,,ENST00000583718,;STARD3,non_coding_transcript_exon_variant,,ENST00000578232,;STARD3,downstream_gene_variant,,ENST00000582874,;STARD3,downstream_gene_variant,,ENST00000460894,;STARD3,downstream_gene_variant,,ENST00000585214,;STARD3,downstream_gene_variant,,ENST00000578254,;STARD3,upstream_gene_variant,,ENST00000583639,;STARD3,missense_variant,p.Gln32Pro,ENST00000583884,;STARD3,synonymous_variant,p.=,ENST00000578577,;STARD3,non_coding_transcript_exon_variant,,ENST00000481171,;STARD3,non_coding_transcript_exon_variant,,ENST00000584850,;STARD3,non_coding_transcript_exon_variant,,ENST00000488876,;STARD3,non_coding_transcript_exon_variant,,ENST00000471896,;STARD3,non_coding_transcript_exon_variant,,ENST00000585269,;STARD3,downstream_gene_variant,,ENST00000583582,;STARD3,downstream_gene_variant,,ENST00000484773,;STARD3,upstream_gene_variant,,ENST00000578384,;STARD3,upstream_gene_variant,,ENST00000578686,;STARD3,downstream_gene_variant,,ENST00000580551,;							MODERATE	752/1338	Q251P	STAR3_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000337446		CCDS11341.1			1	
RASGRF2	0	LGGM	GRCh37	5	80508193	80508193	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	17	3	.	.	ENST00000265080.4:c.3165C>A	p.Asn1055Lys	p.N1055K	ENST00000265080	NM_006909.2	1055	aaC/aaA	0	1	1	UPI0000047ABF	0	getma.org/pdb.php?prot=RGRF2_HUMAN&from=999&to=1184&var=N1055K	ENST00000265080		ENSG00000113319	9876		20	1.445		HGNC	p.N1055K		RASGRF2		SNV							ENST00000265080	protein_coding	getma.org/?cm=var&var=hg19,5,80508193,C,A&fts=all		Superfamily_domains:0041591,SMART_domains:SM00147,Gene3D:2ii0A02,Pfam_domain:PF00617,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF187,PROSITE_profiles:PS50009		N/K		A	low	3232/8167		getma.org/?cm=msa&ty=f&p=RGRF2_HUMAN&rb=999&re=1184&var=N1055K	tolerated(0.13)	Q68DX5_HUMAN			YES	RASGRF2,missense_variant,p.Asn1055Lys,ENST00000265080,NM_006909.2;CKMT2-AS1,intron_variant,,ENST00000511495,;CKMT2-AS1,intron_variant,,ENST00000503483,;RASGRF2,missense_variant,p.Asn1055Lys,ENST00000503795,;							MODERATE	3165/3714	N1055K	RGRF2_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000265080		CCDS4052.1			1	
KIF5C	0	LGGM	GRCh37	2	149847637	149847637	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	40	3	.	.	ENST00000435030.1:c.1830C>T	p.Ser610=	p.S610=	ENST00000435030		610	agC/agT	0	1	1	UPI000012DDB7	0		ENST00000435030		ENSG00000168280	6325		43			HGNC	p.S378S	rs367575634,COSM1399872,COSM1399871	KIF5C	0.000618	SNV	T:0		1			0,1,1	ENST00000397413	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF365		S	T:0.0001	T		2198/6931	1.51E-05			Q9UFW7_HUMAN,Q57Z91_HUMAN,Q57YV6_HUMAN,Q57YV5_HUMAN,Q53QT4_HUMAN,C9JWB9_HUMAN			YES	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,,ENST00000460377,;	0.00035				0,1,1		LOW	1830/2874		KIF5C_HUMAN			Transcript			common_variant	ENSP00000393379	0.000116				1	
PITPNB	0	LGGM	GRCh37	22	28315100	28315100	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	41	3	.	.	ENST00000335272.5:c.20+60A>T		*7*	ENST00000335272	NM_012399.3			0	1	1	UPI0000043C3A	0		ENST00000335272		ENSG00000180957	9002		44			HGNC	p.M6L		PITPNB		SNV							ENST00000436663	protein_coding							A		-/2926				B3KYB6_HUMAN			YES	PITPNB,missense_variant,p.Met6Leu,ENST00000455418,NM_001284278.1;PITPNB,missense_variant,p.Met6Leu,ENST00000436663,;PITPNB,intron_variant,,ENST00000335272,NM_012399.3;PITPNB,intron_variant,,ENST00000320996,NM_001284277.1;PITPNB,intron_variant,,ENST00000415296,;MIR3199-2,downstream_gene_variant,,ENST00000582434,;TTC28-AS1,upstream_gene_variant,,ENST00000454741,;TTC28-AS1,upstream_gene_variant,,ENST00000434221,;TTC28-AS1,upstream_gene_variant,,ENST00000437713,;TTC28-AS1,upstream_gene_variant,,ENST00000419253,;TTC28-AS1,upstream_gene_variant,,ENST00000454996,;TTC28-AS1,upstream_gene_variant,,ENST00000425112,;TTC28-AS1,upstream_gene_variant,,ENST00000452612,;TTC28-AS1,upstream_gene_variant,,ENST00000428818,;TTC28-AS1,upstream_gene_variant,,ENST00000435348,;TTC28-AS1,upstream_gene_variant,,ENST00000430853,;TTC28-AS1,upstream_gene_variant,,ENST00000453632,;TTC28-AS1,upstream_gene_variant,,ENST00000424161,;TTC28-AS1,upstream_gene_variant,,ENST00000417381,;TTC28-AS1,upstream_gene_variant,,ENST00000430525,;PITPNB,intron_variant,,ENST00000471825,;PITPNB,intron_variant,,ENST00000460566,;TTC28-AS1,upstream_gene_variant,,ENST00000436996,;TTC28-AS1,upstream_gene_variant,,ENST00000428858,;							MODIFIER	-/816		PIPNB_HUMAN			Transcript			.	ENSP00000334738		CCDS13842.1			1	
IQCE	0	LGGM	GRCh37	7	2625867	2625867	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	11	3	.	.	ENST00000402050.2:c.850G>A	p.Ala284Thr	p.A284T	ENST00000402050	NM_152558.3	284	Gcc/Acc	0	1	1	UPI000020E9EF	0	NA	ENST00000402050		ENSG00000106012	29171		14	0		HGNC	p.A219T	rs750439401,COSM3880363	IQCE		SNV						0,1	ENST00000325979	protein_coding	getma.org/?cm=var&var=hg19,7,2625867,G,A&fts=all		hmmpanther:PTHR22590		A/T		A	neutral	1034/6844		getma.org/?cm=msa&ty=f&p=IQCE_HUMAN&rb=201&re=400&var=A284T	tolerated(0.31)	C9JX25_HUMAN,C9JP75_HUMAN			YES	IQCE,missense_variant,p.Ala284Thr,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,missense_variant,p.Ala233Thr,ENST00000404984,;IQCE,missense_variant,p.Ala219Thr,ENST00000325979,;IQCE,missense_variant,p.Ala268Thr,ENST00000438376,NM_001287500.1;IQCE,missense_variant,p.Ala91Thr,ENST00000427817,;IQCE,downstream_gene_variant,,ENST00000497572,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;IQCE,upstream_gene_variant,,ENST00000490913,;					0,1		MODERATE	850/2088	A284T	IQCE_HUMAN			Transcript		benign(0.001)	.	ENSP00000385597	8.27E-06	CCDS43542.1			1	
COL2A1	0	LGGM	GRCh37	12	48389676	48389676	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	30	3	.	.	ENST00000380518.3:c.636A>T	p.Pro212=	p.P212=	ENST00000380518	NM_033150.2	212	ccA/ccT	0	1	1	UPI0000D79713	0		ENST00000380518		ENSG00000139219	2200		33			HGNC	p.P143P		COL2A1		SNV			1				ENST00000337299	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,Low_complexity_(Seg):seg		P		A		801/5071							YES	COL2A1,synonymous_variant,p.=,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,synonymous_variant,p.=,ENST00000337299,;COL2A1,downstream_gene_variant,,ENST00000474996,;COL2A1,downstream_gene_variant,,ENST00000466884,;COL2A1,downstream_gene_variant,,ENST00000490609,;							LOW	636/4464		CO2A1_HUMAN			Transcript			.	ENSP00000369889		CCDS41778.1			1	
CLEC4G	0	LGGM	GRCh37	19	7794815	7794815	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	25	3	.	.	ENST00000328853.5:c.635T>C	p.Leu212Pro	p.L212P	ENST00000328853	NM_001244856.1	212	cTc/cCc	0	1	1	UPI000004C65D	0	getma.org/pdb.php?prot=CLC4G_HUMAN&from=182&to=289&var=L212P	ENST00000328853		ENSG00000182566	24591		28	3.84		HGNC	p.L212P		CLEC4G		SNV							ENST00000328853	protein_coding	getma.org/?cm=var&var=hg19,19,7794815,A,G&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF206,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		L/P		G	high	704/1360		getma.org/?cm=msa&ty=f&p=CLC4G_HUMAN&rb=182&re=289&var=L212P	deleterious(0)	Q08G24_HUMAN			YES	CLEC4G,missense_variant,p.Leu212Pro,ENST00000328853,NM_001244856.1,NM_198492.3;CLEC4G,downstream_gene_variant,,ENST00000599020,;CLEC4G,downstream_gene_variant,,ENST00000598081,;							MODERATE	635/882	L212P	CLC4G_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000327599		CCDS12185.1			1	
CLVS1	0	LGGM	GRCh37	8	62371062	62371062	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	22	3	.	.	ENST00000519846.1:c.938C>A	p.Ser313Ter	p.S313*	ENST00000519846		313	tCg/tAg	0	1		UPI000007472D	0	NA	ENST00000325897		ENSG00000177182	23139		25	0		HGNC	p.S313X		CLVS1		SNV							ENST00000519846	protein_coding	getma.org/?cm=var&var=hg19,8,62371062,C,A&fts=all		hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72		S/*		A	NA	1256/3486		NA		G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN				CLVS1,stop_gained,p.Ser313Ter,ENST00000519846,;CLVS1,stop_gained,p.Ser313Ter,ENST00000325897,NM_173519.2;CLVS1,stop_gained,p.Ser34Ter,ENST00000518592,;CLVS1,stop_gained,p.Ser34Ter,ENST00000520712,;CLVS1,downstream_gene_variant,,ENST00000524095,;CLVS1,non_coding_transcript_exon_variant,,ENST00000522928,;CLVS1,downstream_gene_variant,,ENST00000518426,;							HIGH	938/1065	S313*	CLVS1_HUMAN			Transcript			.	ENSP00000325506		CCDS6176.1			1	
NPC1	0	LGGM	GRCh37	18	21134742	21134742	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	18	3	.	.	ENST00000269228.5:c.1533G>A	p.Thr511=	p.T511=	ENST00000269228	NM_000271.4	511	acG/acA	0	1	1	UPI000013D80F	0		ENST00000269228		ENSG00000141458	7897		21			HGNC	p.T261T	rs778890495,COSM987091	NPC1		SNV			1			0,1	ENST00000412552	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,TIGRFAM_domain:TIGR00917		T		T		2088/5157							YES	NPC1,synonymous_variant,p.=,ENST00000269228,NM_000271.4;NPC1,synonymous_variant,p.=,ENST00000591051,;NPC1,synonymous_variant,p.=,ENST00000412552,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,non_coding_transcript_exon_variant,,ENST00000590301,;					0,1		LOW	1533/3837		NPC1_HUMAN			Transcript			.	ENSP00000269228		CCDS11878.1			1	
PDZD2	0	LGGM	GRCh37	5	32058173	32058173	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	19	3	.	.	ENST00000438447.1:c.2164A>G	p.Lys722Glu	p.K722E	ENST00000438447		722	Aag/Gag	0	1	1	UPI000069648B	0	NA	ENST00000438447		ENSG00000133401	18486		22	0.975		HGNC	p.K722E		PDZD2		SNV							ENST00000438447	protein_coding	getma.org/?cm=var&var=hg19,5,32058173,A,G&fts=all		hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324,Gene3D:2.30.42.10,Superfamily_domains:SSF50156		K/E		G	low	2552/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=671&re=727&var=K722E	deleterious(0)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Lys722Glu,ENST00000438447,;PDZD2,missense_variant,p.Lys722Glu,ENST00000282493,NM_178140.2;PDZD2,upstream_gene_variant,,ENST00000513184,;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;PDZD2,downstream_gene_variant,,ENST00000509256,;							MODERATE	2164/8520	K722E	PDZD2_HUMAN			Transcript		possibly_damaging(0.619)	.	ENSP00000402033		CCDS34137.1			1	
FRAS1	0	LGGM	GRCh37	4	79447766	79447766	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	28	3	.	.	ENST00000264895.6:c.10880A>G	p.Asp3627Gly	p.D3627G	ENST00000264895	NM_025074.6	3627	gAc/gGc	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		31	1.845		HGNC	p.D3627G		FRAS1		SNV			1				ENST00000264895	protein_coding	getma.org/?cm=var&var=hg19,4,79447766,A,G&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878		D/G		G	low	11320/12479		getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=3155&re=4005&var=D3622G		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Asp3627Gly,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Asp1856Gly,ENST00000512123,;							MODERATE	10880/12039	D3622G	FRAS1_HUMAN			Transcript		benign(0.027)	.	ENSP00000264895		CCDS54771.1			1	
SLC7A2	0	LGGM	GRCh37	8	17401136	17401136	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	24	3	.	.	ENST00000004531.10:c.408G>A	p.Thr136=	p.T136=	ENST00000004531	NM_001164771.1	136	acG/acA	0	1		UPI000035CC54	0		ENST00000494857		ENSG00000003989	11060	8.69E-05	27			HGNC	p.T96T	rs759651417	SLC7A2	9.13E-05	SNV							ENST00000494857	protein_coding			hmmpanther:PTHR11785:SF242,hmmpanther:PTHR11785,Pfam_domain:PF13520,TIGRFAM_domain:TIGR00906,PIRSF_domain:PIRSF006060		T		A		506/7622	1.55E-05							SLC7A2,synonymous_variant,p.=,ENST00000470360,;SLC7A2,synonymous_variant,p.=,ENST00000494857,NM_001008539.3;SLC7A2,synonymous_variant,p.=,ENST00000004531,NM_001164771.1;SLC7A2,synonymous_variant,p.=,ENST00000398090,NM_003046.5;SLC7A2,synonymous_variant,p.=,ENST00000522656,;							LOW	288/1977		CTR2_HUMAN			Transcript			.	ENSP00000419140	2.47E-05	CCDS34852.1			1	
STAB2	0	LGGM	GRCh37	12	104100747	104100747	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	10	4	.	.	ENST00000388887.2:c.4174G>A	p.Gly1392Ser	p.G1392S	ENST00000388887	NM_017564.9	1392	Ggc/Agc	0	1	1	UPI00001ADDF4	0	NA	ENST00000388887		ENSG00000136011	18629	8.70E-05	14	2.855		HGNC	p.G1392S	rs560538109	STAB2	0.00135	SNV							ENST00000388887	protein_coding	getma.org/?cm=var&var=hg19,12,104100747,G,A&fts=all	A:0	PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,PROSITE_patterns:PS01248,Gene3D:2gy5A03,SMART_domains:SM00180		G/S		A	medium	4378/8251	4.53E-05	getma.org/?cm=msa&ty=f&p=STAB2_HUMAN&rb=1343&re=1408&var=G1392S	deleterious(0.01)	H0YIF3_HUMAN	A:0	A:0	YES	STAB2,missense_variant,p.Gly1392Ser,ENST00000388887,NM_017564.9;STAB2,downstream_gene_variant,,ENST00000549474,;STAB2,upstream_gene_variant,,ENST00000549798,;		A:0.0002					MODERATE	4174/7656	G1392S	STAB2_HUMAN		A:0	Transcript		benign(0.135)	common_variant	ENSP00000373539	0.000231	CCDS31888.1	0.00226	A:0.001	1	
UMODL1	0	LGGM	GRCh37	21	43531814	43531814	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	11	4	.	.	ENST00000408989.2:c.2482G>T	p.Ala828Ser	p.A828S	ENST00000408989	NM_173568.3	828	Gcc/Tcc	0	1		UPI00006C2192	0	NA	ENST00000408910		ENSG00000177398	12560		15	0.695		HGNC	p.A828S		UMODL1		SNV							ENST00000408989	protein_coding	getma.org/?cm=var&var=hg19,21,43531814,G,T&fts=all		hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135,Superfamily_domains:SSF49265		A/S		T	neutral	2098/4878		getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=552&re=751&var=A700S	tolerated(0.32)	Q6L9N9_HUMAN				UMODL1,missense_variant,p.Ala628Ser,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Ala756Ser,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Ala828Ser,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Ala700Ser,ENST00000408910,NM_001004416.2;C21orf128,upstream_gene_variant,,ENST00000329015,;UMODL1,non_coding_transcript_exon_variant,,ENST00000475047,;							MODERATE	2098/3957	A700S	UROL1_HUMAN			Transcript		benign(0.03)	.	ENSP00000386147		CCDS42936.1			1	
CLXN	0	LGGM	GRCh37	8	49644048	49644048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	22	4	.	.	ENST00000262103.3:c.73G>T	p.Val25Leu	p.V25L	ENST00000262103	NM_024593.3	25	Gtg/Ttg	0	1	1	UPI000006E520	0	NA	ENST00000262103		ENSG00000034239	25678		26	1.465		HGNC	p.V25L		EFCAB1		SNV							ENST00000450553	protein_coding	getma.org/?cm=var&var=hg19,8,49644048,C,A&fts=all		hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF75,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		V/L		A	low	154/2051		getma.org/?cm=msa&ty=f&p=EFCB1_HUMAN&rb=1&re=64&var=V25L	tolerated(0.34)				YES	EFCAB1,missense_variant,p.Val25Leu,ENST00000262103,NM_024593.3;EFCAB1,intron_variant,,ENST00000433756,NM_001142857.1;EFCAB1,intron_variant,,ENST00000523092,;EFCAB1,upstream_gene_variant,,ENST00000522254,;EFCAB1,upstream_gene_variant,,ENST00000523008,;EFCAB1,intron_variant,,ENST00000521002,;EFCAB1,intron_variant,,ENST00000521721,;EFCAB1,intron_variant,,ENST00000521701,;EFCAB1,upstream_gene_variant,,ENST00000519425,;							MODERATE	73/636	V25L	EFCB1_HUMAN			Transcript		benign(0.016)	.	ENSP00000262103		CCDS6145.1			1	
POLE	0	LGGM	GRCh37	12	133220553	133220553	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	35	4	.	.	ENST00000320574.5:c.4160T>C	p.Val1387Ala	p.V1387A	ENST00000320574	NM_006231.2	1387	gTc/gCc	0	1	1	UPI00001FBF97	0	NA	ENST00000320574		ENSG00000177084	9177		39	1.7		HGNC	p.V1387A		POLE		SNV			1				ENST00000320574	protein_coding	getma.org/?cm=var&var=hg19,12,133220553,A,G&fts=all		hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0		V/A		G	low	4204/7840		getma.org/?cm=msa&ty=f&p=DPOE1_HUMAN&rb=1357&re=1524&var=V1387A	tolerated(0.3)	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN			YES	POLE,missense_variant,p.Val1387Ala,ENST00000320574,NM_006231.2;POLE,missense_variant,p.Val1360Ala,ENST00000535270,;POLE,downstream_gene_variant,,ENST00000539006,;POLE,upstream_gene_variant,,ENST00000434528,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000541213,;POLE,downstream_gene_variant,,ENST00000540987,;POLE,upstream_gene_variant,,ENST00000542362,;							MODERATE	4160/6861	V1387A	DPOE1_HUMAN			Transcript		benign(0.001)	.	ENSP00000322570		CCDS9278.1			1	
NID2	0	LGGM	GRCh37	14	52521018	52521018	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	15	4	.	.	ENST00000216286.5:c.789T>A	p.Pro263=	p.P263=	ENST00000216286	NM_007361.3	263	ccT/ccA	0	1	1	UPI000013C6E1	0		ENST00000216286		ENSG00000087303	13389		19			HGNC	p.P210P		NID2		SNV							ENST00000541773	protein_coding			PROSITE_profiles:PS51220,Pfam_domain:PF06119,SMART_domains:SM00539		P		T		789/4811							YES	NID2,synonymous_variant,p.=,ENST00000216286,NM_007361.3;NID2,synonymous_variant,p.=,ENST00000541773,;							LOW	789/4128		NID2_HUMAN			Transcript			.	ENSP00000216286		CCDS9706.1			1	
LAMC1	0	LGGM	GRCh37	1	183090999	183090999	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	17	4	.	.	ENST00000258341.4:c.2132A>T	p.Glu711Val	p.E711V	ENST00000258341	NM_002293.3	711	gAa/gTa	0	1	1	UPI000013CFC7	0	NA	ENST00000258341		ENSG00000135862	6492		21	1.825		HGNC	p.E711V		LAMC1		SNV							ENST00000258341	protein_coding	getma.org/?cm=var&var=hg19,1,183090999,A,T&fts=all		PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF228		E/V		T	low	2389/7889		getma.org/?cm=msa&ty=f&p=LAMC1_HUMAN&rb=690&re=723&var=E711V	deleterious(0)	R4GNC7_HUMAN			YES	LAMC1,missense_variant,p.Glu711Val,ENST00000258341,NM_002293.3;LAMC1,upstream_gene_variant,,ENST00000466964,;LAMC1,downstream_gene_variant,,ENST00000479499,;							MODERATE	2132/4830	E711V	LAMC1_HUMAN			Transcript		benign(0.04)	.	ENSP00000258341		CCDS1351.1			1	
HMMR	0	LGGM	GRCh37	5	162902483	162902483	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	59	4	.	.	ENST00000393915.4:c.1073A>G	p.His358Arg	p.H358R	ENST00000393915	NM_001142556.1	358	cAt/cGt	0	1		UPI000020C09D	0	NA	ENST00000358715		ENSG00000072571	5012		63	-0.205		HGNC	p.H342R		HMMR		SNV							ENST00000353866	protein_coding	getma.org/?cm=var&var=hg19,5,162902483,A,G&fts=all		hmmpanther:PTHR18956		H/R		G	neutral	1106/2988		getma.org/?cm=msa&ty=f&p=HMMR_HUMAN&rb=71&re=722&var=H357R	tolerated(0.22)	E5RIH2_HUMAN,E5RI30_HUMAN,E3W978_HUMAN,B9UCQ3_HUMAN				HMMR,missense_variant,p.His358Arg,ENST00000393915,NM_001142556.1,NM_012484.2;HMMR,missense_variant,p.His357Arg,ENST00000358715,;HMMR,missense_variant,p.His342Arg,ENST00000353866,NM_012485.2;HMMR,missense_variant,p.His271Arg,ENST00000432118,NM_001142557.1;HMMR,downstream_gene_variant,,ENST00000520345,;HMMR,downstream_gene_variant,,ENST00000522094,;							MODERATE	1070/2175	H357R	HMMR_HUMAN			Transcript		benign(0.02)	.	ENSP00000351554		CCDS4362.1			1	
CDC42BPA	0	LGGM	GRCh37	1	227216916	227216916	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	24	4	.	.	ENST00000366769.3:c.3769C>G	p.Gln1257Glu	p.Q1257E	ENST00000366769	NM_003607.3	1257	Cag/Gag	0	1		UPI00017BE78A	0	NA	ENST00000334218		ENSG00000143776	1737		28	2.49		HGNC	p.Q1257E		CDC42BPA		SNV							ENST00000366769	protein_coding	getma.org/?cm=var&var=hg19,1,227216916,G,C&fts=all		Superfamily_domains:0047732,SMART_domains:SM00036,Pfam_domain:PF00780,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31,PROSITE_profiles:PS50219		Q/E		C	medium	4712/10691		getma.org/?cm=msa&ty=f&p=MRCKA_HUMAN&rb=1232&re=1496&var=Q1270E	deleterious(0.01)	Q9NYF6_HUMAN				CDC42BPA,missense_variant,p.Gln1257Glu,ENST00000366769,NM_003607.3;CDC42BPA,missense_variant,p.Gln1257Glu,ENST00000334218,;CDC42BPA,missense_variant,p.Gln1292Glu,ENST00000366766,;CDC42BPA,missense_variant,p.Gln1229Glu,ENST00000366764,;CDC42BPA,missense_variant,p.Gln1176Glu,ENST00000366767,NM_014826.4;CDC42BPA,missense_variant,p.Gln460Glu,ENST00000448940,;CDC42BPA,missense_variant,p.Gln1270Glu,ENST00000366765,;CDC42BPA,missense_variant,p.Gln1237Glu,ENST00000535525,;CDC42BPA,missense_variant,p.Gln586Glu,ENST00000442054,;CDC42BPA,missense_variant,p.Gln155Glu,ENST00000429440,;CDC42BPA,missense_variant,p.Gln482Glu,ENST00000441725,;							MODERATE	3769/5346	Q1270E	MRCKA_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000335341					1	
DSE	0	LGGM	GRCh37	6	116757258	116757258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	22	4	.	.	ENST00000331677.3:c.1627G>A	p.Gly543Arg	p.G543R	ENST00000331677		543	Gga/Aga	0	1	1	UPI0000073CB8	0	getma.org/pdb.php?prot=DSE_HUMAN&from=401&to=600&var=G543R	ENST00000331677		ENSG00000111817	21144		26	1.39		HGNC	p.G562R		DSE		SNV			1				ENST00000537543	protein_coding	getma.org/?cm=var&var=hg19,6,116757258,G,A&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3		G/R		A	low	2071/7237		getma.org/?cm=msa&ty=f&p=DSE_HUMAN&rb=401&re=600&var=G543R	tolerated(0.27)	B3KY37_HUMAN			YES	DSE,missense_variant,p.Gly543Arg,ENST00000331677,;DSE,missense_variant,p.Gly543Arg,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Gly543Arg,ENST00000359564,NM_013352.2;DSE,missense_variant,p.Gly562Arg,ENST00000537543,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;							MODERATE	1627/2877	G543R	DSE_HUMAN			Transcript		benign(0.01)	.	ENSP00000332151		CCDS5107.1			1	
RYR3	0	LGGM	GRCh37	15	33954414	33954414	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	7	5	.	.	ENST00000389232.4:c.4683G>T	p.Thr1561=	p.T1561=	ENST00000389232	NM_001036.3	1561	acG/acT	0	1	1	UPI0000E5B01A	0		ENST00000389232		ENSG00000198838	10485		12			HGNC	p.T1561T		RYR3		SNV							ENST00000415757	protein_coding			hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		T		T		4753/15559							YES	RYR3,synonymous_variant,p.=,ENST00000389232,NM_001036.3;RYR3,synonymous_variant,p.=,ENST00000415757,NM_001243996.1;							LOW	4683/14613		RYR3_HUMAN			Transcript			.	ENSP00000373884		CCDS45210.1			1	
TRIO	0	LGGM	GRCh37	5	14293143	14293143	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	41	5	.	.	ENST00000344204.4:c.1076A>T	p.Asn359Ile	p.N359I	ENST00000344204	NM_007118.2	359	aAc/aTc	0	1	1	UPI000034ECE6	0	NA	ENST00000344204		ENSG00000038382	12303		46	2.295		HGNC	p.N300I		TRIO		SNV			1				ENST00000512070	protein_coding	getma.org/?cm=var&var=hg19,5,14293143,A,T&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,SMART_domains:SM00150,Superfamily_domains:SSF46966		N/I		T	medium	1100/11100		getma.org/?cm=msa&ty=f&p=TRIO_HUMAN&rb=340&re=446&var=N359I					YES	TRIO,missense_variant,p.Asn359Ile,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Asn359Ile,ENST00000537187,;TRIO,missense_variant,p.Asn92Ile,ENST00000513206,;TRIO,missense_variant,p.Asn310Ile,ENST00000509967,;TRIO,missense_variant,p.Asn300Ile,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000504606,;TRIO,upstream_gene_variant,,ENST00000515144,;TRIO,downstream_gene_variant,,ENST00000502816,;							MODERATE	1076/9294	N359I	TRIO_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000339299		CCDS3883.1			1	
TRERF1	0	LGGM	GRCh37	6	42237281	42237281	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	15	5	.	.	ENST00000372922.4:c.48T>G	p.Ser16Arg	p.S16R	ENST00000372922	NM_033502.2	16	agT/agG	0	1	1	UPI0000052952	0	NA	ENST00000372922		ENSG00000124496	18273		20	0		HGNC	p.S16R		TRERF1		SNV							ENST00000340840	protein_coding	getma.org/?cm=var&var=hg19,6,42237281,A,C&fts=all		hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089		S/R		C	neutral	611/7286		getma.org/?cm=msa&ty=f&p=TREF1_HUMAN&rb=1&re=503&var=S16R	deleterious_low_confidence(0.03)				YES	TRERF1,missense_variant,p.Ser16Arg,ENST00000541110,;TRERF1,missense_variant,p.Ser16Arg,ENST00000372917,;TRERF1,missense_variant,p.Ser16Arg,ENST00000372922,NM_033502.2;TRERF1,missense_variant,p.Ser16Arg,ENST00000340840,;TRERF1,missense_variant,p.Ser16Arg,ENST00000354325,;							MODERATE	48/3603	S16R	TREF1_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000362013		CCDS4867.1			1	
COL11A1	0	LGGM	GRCh37	1	103540283	103540283	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	31	5	.	.	ENST00000370096.3:c.542A>G	p.Asp181Gly	p.D181G	ENST00000370096	NM_001854.3	181	gAt/gGt	0	1	1	UPI00002053EF	0	getma.org/pdb.php?prot=COBA1_HUMAN&from=101&to=228&var=D181G	ENST00000370096		ENSG00000060718	2186		36	3.63		HGNC	p.D181G		COL11A1		SNV			1				ENST00000370096	protein_coding	getma.org/?cm=var&var=hg19,1,103540283,T,C&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,SMART_domains:SM00210,SMART_domains:SM00282,Superfamily_domains:SSF49899		D/G		C	high	855/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=101&re=228&var=D181G		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Asp181Gly,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Asp181Gly,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Asp181Gly,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Asp181Gly,ENST00000512756,NM_080630.3;COL11A1,missense_variant,p.Asp181Gly,ENST00000427239,;COL11A1,missense_variant,p.Asp108Gly,ENST00000447608,;							MODERATE	542/5421	D181G	COBA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359114		CCDS778.1			1	
BBS9	0	LGGM	GRCh37	7	33192431	33192431	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	26	5	.	.	ENST00000242067.6:c.231A>T	p.Pro77=	p.P77=	ENST00000242067	NM_198428.2	77	ccA/ccT	0	1	1	UPI000020ED57	0		ENST00000242067		ENSG00000122507	30000		31			HGNC	p.P77P		BBS9		SNV			1				ENST00000396127	protein_coding			Pfam_domain:PF14727,hmmpanther:PTHR20991,hmmpanther:PTHR20991:SF0		P		T		752/4027				C9JRR5_HUMAN,C9JJ08_HUMAN			YES	BBS9,synonymous_variant,p.=,ENST00000242067,NM_198428.2;BBS9,synonymous_variant,p.=,ENST00000355070,NM_001033605.1;BBS9,synonymous_variant,p.=,ENST00000354265,;BBS9,synonymous_variant,p.=,ENST00000396127,NM_001033604.1;BBS9,synonymous_variant,p.=,ENST00000350941,NM_014451.3;BBS9,synonymous_variant,p.=,ENST00000425508,;BBS9,synonymous_variant,p.=,ENST00000432983,;BBS9,upstream_gene_variant,,ENST00000442858,;BBS9,non_coding_transcript_exon_variant,,ENST00000482941,;BBS9,non_coding_transcript_exon_variant,,ENST00000465037,;BBS9,synonymous_variant,p.=,ENST00000433714,;							LOW	231/2664		PTHB1_HUMAN			Transcript			.	ENSP00000242067		CCDS43566.1			1	
PCDH20	0	LGGM	GRCh37	13	61986275	61986275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	34	5	.	.	ENST00000409186.1:c.1957C>T	p.Pro653Ser	p.P653S	ENST00000409186		653	Cca/Tca	0	1	1	UPI000007371F	0	getma.org/pdb.php?prot=PCD20_HUMAN&from=617&to=706&var=P626S	ENST00000409186		ENSG00000197991	14257		39	1.31		HGNC	p.P653S		PCDH20		SNV							ENST00000409204	protein_coding	getma.org/?cm=var&var=hg19,13,61986275,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,Superfamily_domains:SSF49313		P/S		A	low	4063/6347		getma.org/?cm=msa&ty=f&p=PCD20_HUMAN&rb=617&re=706&var=P626S	deleterious(0.02)	B3KSZ7_HUMAN			YES	PCDH20,missense_variant,p.Pro653Ser,ENST00000409186,;PCDH20,missense_variant,p.Pro653Ser,ENST00000409204,NM_022843.3;							MODERATE	1957/2856	P626S	PCD20_HUMAN			Transcript		possibly_damaging(0.47)	.	ENSP00000386653		CCDS9442.2			1	
MON2	0	LGGM	GRCh37	12	62943488	62943488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	34	5	.	.	ENST00000393632.2:c.2794G>T	p.Val932Phe	p.V932F	ENST00000393632	NM_001278472.1	932	Gtt/Ttt	0	1		UPI0000D45F87	0	NA	ENST00000393630		ENSG00000061987	29177		39	2.125		HGNC	p.V933F		MON2		SNV							ENST00000280379	protein_coding	getma.org/?cm=var&var=hg19,12,62943488,G,T&fts=all		Pfam_domain:PF09324,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371		V/F		T	medium	3188/10382		getma.org/?cm=msa&ty=f&p=MON2_HUMAN&rb=848&re=933&var=V933F	deleterious(0)					MON2,missense_variant,p.Val933Phe,ENST00000393630,;MON2,missense_variant,p.Val932Phe,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,missense_variant,p.Val932Phe,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Val932Phe,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Val909Phe,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Val933Phe,ENST00000280379,;MON2,missense_variant,p.Val932Phe,ENST00000552115,;RNU6-399P,upstream_gene_variant,,ENST00000365164,;MON2,3_prime_UTR_variant,,ENST00000547095,;							MODERATE	2797/5157	V933F	MON2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000377250					1	
STK25	0	LGGM	GRCh37	2	242440825	242440825	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	15	5	.	.	ENST00000316586.4:c.261+68T>G		*87*	ENST00000316586	NM_001282308.1			0	1	1	UPI0000000C8C	0		ENST00000316586		ENSG00000115694	11404		20			HGNC	p.L110R		STK25		SNV							ENST00000426941	protein_coding							C		-/4619				E7EM58_HUMAN,C9JJV0_HUMAN,C9JDH9_HUMAN,C9JCC0_HUMAN,C9J232_HUMAN,B7Z9K1_HUMAN			YES	STK25,missense_variant,p.Leu110Arg,ENST00000426941,;STK25,intron_variant,,ENST00000316586,NM_001282308.1;STK25,intron_variant,,ENST00000401869,NM_001271978.1;STK25,intron_variant,,ENST00000403346,NM_006374.4,NM_001271977.1;STK25,intron_variant,,ENST00000543554,;STK25,intron_variant,,ENST00000405883,NM_001271979.1;STK25,intron_variant,,ENST00000405585,NM_001271980.1;STK25,intron_variant,,ENST00000535007,;STK25,intron_variant,,ENST00000440109,;STK25,intron_variant,,ENST00000442307,;STK25,intron_variant,,ENST00000450497,;STK25,intron_variant,,ENST00000413760,;STK25,intron_variant,,ENST00000424537,;STK25,intron_variant,,ENST00000439101,;STK25,intron_variant,,ENST00000436402,;STK25,intron_variant,,ENST00000429279,;STK25,intron_variant,,ENST00000435225,;STK25,upstream_gene_variant,,ENST00000423004,;STK25,downstream_gene_variant,,ENST00000420551,;STK25,intron_variant,,ENST00000461760,;STK25,intron_variant,,ENST00000452891,;STK25,intron_variant,,ENST00000483603,;STK25,intron_variant,,ENST00000436917,;STK25,upstream_gene_variant,,ENST00000478403,;STK25,upstream_gene_variant,,ENST00000470438,;STK25,non_coding_transcript_exon_variant,,ENST00000495372,;STK25,intron_variant,,ENST00000492127,;STK25,intron_variant,,ENST00000496159,;STK25,upstream_gene_variant,,ENST00000487962,;STK25,upstream_gene_variant,,ENST00000465009,;STK25,upstream_gene_variant,,ENST00000494699,;STK25,upstream_gene_variant,,ENST00000495143,;STK25,upstream_gene_variant,,ENST00000479442,;STK25,upstream_gene_variant,,ENST00000462953,;							MODIFIER	-/1281		STK25_HUMAN			Transcript			.	ENSP00000325748		CCDS2549.1			1	
POSTN	0	LGGM	GRCh37	13	38158197	38158197	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	23	5	.	.	ENST00000379747.4:c.1152C>A	p.Phe384Leu	p.F384L	ENST00000379747	NM_006475.2	384	ttC/ttA	0	1	1	UPI000013CEB8	0	getma.org/pdb.php?prot=POSTN_HUMAN&from=379&to=494&var=F384L	ENST00000379747		ENSG00000133110	16953		28	1.015		HGNC	p.F384L		POSTN		SNV							ENST00000379742	protein_coding	getma.org/?cm=var&var=hg19,13,38158197,G,T&fts=all		Gene3D:2.30.180.10,Pfam_domain:PF02469,PIRSF_domain:PIRSF016553,PROSITE_profiles:PS50213,hmmpanther:PTHR10900,hmmpanther:PTHR10900:SF12,Superfamily_domains:SSF82153		F/L		T	low	1270/3373		getma.org/?cm=msa&ty=f&p=POSTN_HUMAN&rb=379&re=494&var=F384L	deleterious(0.03)				YES	POSTN,missense_variant,p.Phe384Leu,ENST00000379747,NM_006475.2;POSTN,missense_variant,p.Phe384Leu,ENST00000541179,NM_001135935.1,NM_001135936.1;POSTN,missense_variant,p.Phe384Leu,ENST00000379749,;POSTN,missense_variant,p.Phe384Leu,ENST00000379743,NM_001286665.1;POSTN,missense_variant,p.Phe384Leu,ENST00000379742,NM_001135934.1;POSTN,missense_variant,p.Phe384Leu,ENST00000541481,NM_001286666.1;							MODERATE	1152/2511	F384L	POSTN_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000369071		CCDS9364.1			1	
TMEM44	0	LGGM	GRCh37	3	194343966	194343966	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	18	5	.	.	ENST00000392432.2:c.599C>G	p.Pro200Arg	p.P200R	ENST00000392432	NM_001166305.1	200	cCt/cGt	0	1	1	UPI00015E0940	0	NA	ENST00000392432		ENSG00000145014	25120		23	1.61		HGNC	p.P200R		TMEM44		SNV							ENST00000392432	protein_coding	getma.org/?cm=var&var=hg19,3,194343966,G,C&fts=all		hmmpanther:PTHR16201,hmmpanther:PTHR16201:SF33		P/R		C	low	805/2490		getma.org/?cm=msa&ty=f&p=TMM44_HUMAN&rb=1&re=464&var=P200R	tolerated(0.09)	Q96I73_HUMAN			YES	TMEM44,missense_variant,p.Pro200Arg,ENST00000392432,NM_001166305.1;TMEM44,missense_variant,p.Pro200Arg,ENST00000273580,NM_138399.4;TMEM44,missense_variant,p.Pro200Arg,ENST00000347147,NM_001011655.2,NM_001166306.1;TMEM44,missense_variant,p.Pro200Arg,ENST00000381975,;TMEM44,missense_variant,p.Pro200Arg,ENST00000473092,;TMEM44,missense_variant,p.Pro97Arg,ENST00000330115,;TMEM44,missense_variant,p.Pro99Arg,ENST00000452358,;TMEM44,non_coding_transcript_exon_variant,,ENST00000494894,;TMEM44,missense_variant,p.Pro97Arg,ENST00000419280,;TMEM44,3_prime_UTR_variant,,ENST00000430601,;							MODERATE	599/1428	P200R	TMM44_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000376227		CCDS54699.1			1	
PDE1A	0	LGGM	GRCh37	2	183387092	183387092	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	29	5	.	.	ENST00000435564.1:c.12T>C	p.Ser4=	p.S4=	ENST00000435564	NM_001258312.1	4	agT/agC	0	1		UPI000003B33F	0		ENST00000410103		ENSG00000115252	8774		34			HGNC	p.S4S		PDE1A		SNV							ENST00000331935	protein_coding			hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF34		S		G		96/2000				Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN				PDE1A,synonymous_variant,p.=,ENST00000435564,NM_001258312.1,NM_005019.4;PDE1A,synonymous_variant,p.=,ENST00000410103,NM_001003683.2;PDE1A,synonymous_variant,p.=,ENST00000456212,;PDE1A,synonymous_variant,p.=,ENST00000331935,;PDE1A,synonymous_variant,p.=,ENST00000358139,;PDE1A,upstream_gene_variant,,ENST00000536095,;PDE1A,non_coding_transcript_exon_variant,,ENST00000495511,;PDE1A,non_coding_transcript_exon_variant,,ENST00000482782,;PDE1A,upstream_gene_variant,,ENST00000462938,;							LOW	12/1608		PDE1A_HUMAN			Transcript			.	ENSP00000387037		CCDS33344.1			1	
SLA	0	LGGM	GRCh37	8	134062153	134062153	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	26	6	.	.	ENST00000427060.2:c.362A>G	p.Tyr121Cys	p.Y121C	ENST00000427060	NM_006748.3	121	tAc/tGc	0	1		UPI000004B144	0	NA	ENST00000338087		ENSG00000155926	10902		32	2.035		HGNC	p.Y81C		SLA		SNV							ENST00000338087	protein_coding	getma.org/?cm=var&var=hg19,8,134062153,T,C&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF4,SMART_domains:SM00326		Y/C		C	medium	1062/3447		getma.org/?cm=msa&ty=f&p=SLAP1_HUMAN&rb=22&re=82&var=Y81C	tolerated(0.06)	Q6FI01_HUMAN,E5RK95_HUMAN,E5RK29_HUMAN,E5RJ69_HUMAN,E5RHT2_HUMAN,E5RGG0_HUMAN,B7Z4L6_HUMAN				SLA,missense_variant,p.Tyr81Cys,ENST00000338087,NM_001045556.2;SLA,missense_variant,p.Tyr98Cys,ENST00000395352,NM_001045557.2;SLA,missense_variant,p.Tyr121Cys,ENST00000427060,NM_006748.3;SLA,missense_variant,p.Tyr98Cys,ENST00000517648,NM_001282964.1;SLA,missense_variant,p.Tyr81Cys,ENST00000519341,;SLA,missense_variant,p.Tyr81Cys,ENST00000522119,;SLA,5_prime_UTR_variant,,ENST00000524345,NM_001282965.1;TG,intron_variant,,ENST00000220616,NM_003235.4;TG,intron_variant,,ENST00000377869,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000519178,;TG,intron_variant,,ENST00000519543,;SLA,downstream_gene_variant,,ENST00000521302,;SLA,downstream_gene_variant,,ENST00000523610,;SLA,downstream_gene_variant,,ENST00000519747,;SLA,non_coding_transcript_exon_variant,,ENST00000518565,;SLA,non_coding_transcript_exon_variant,,ENST00000522002,;SLA,non_coding_transcript_exon_variant,,ENST00000521823,;SLA,non_coding_transcript_exon_variant,,ENST00000523224,;SLA,non_coding_transcript_exon_variant,,ENST00000520106,;TG,intron_variant,,ENST00000523756,;SLA,downstream_gene_variant,,ENST00000518594,;SLA,downstream_gene_variant,,ENST00000519504,;SLA,downstream_gene_variant,,ENST00000522432,;							MODERATE	242/831	Y81C	SLAP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337548		CCDS6370.1			1	
GARIN3	0	LGGM	GRCh37	5	156590337	156590337	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	74	6	.	.	ENST00000302938.4:c.939G>C	p.Leu313=	p.L313=	ENST00000302938	NM_130899.2	313	ctG/ctC	0	1	1	UPI000006F9DC	0		ENST00000302938		ENSG00000170613	28397		80			HGNC	p.L313L		FAM71B		SNV							ENST00000302938	protein_coding			hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2		L		G		1035/2515							YES	FAM71B,synonymous_variant,p.=,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;							LOW	939/1818		FA71B_HUMAN			Transcript			.	ENSP00000305596		CCDS4335.1			1	
SARM1	0	LGGM	GRCh37	17	26715219	26715219	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	13	6	.	.	ENST00000457710.3:c.1555A>T	p.Thr519Ser	p.T519S	ENST00000457710	NM_015077.3	519	Act/Tct	0	1	1	UPI0000042801	0		ENST00000457710		ENSG00000004139	17074		19			HGNC	p.T519S		SARM1		SNV							ENST00000457710	protein_coding			hmmpanther:PTHR22998		T/S		T		2026/7304			tolerated(0.98)				YES	SARM1,missense_variant,p.Thr519Ser,ENST00000457710,NM_015077.3;SARM1,missense_variant,p.Thr86Ser,ENST00000578128,;SARM1,upstream_gene_variant,,ENST00000579593,;SARM1,non_coding_transcript_exon_variant,,ENST00000379061,;SARM1,3_prime_UTR_variant,,ENST00000582323,;SARM1,non_coding_transcript_exon_variant,,ENST00000003834,;SARM1,non_coding_transcript_exon_variant,,ENST00000577870,;SARM1,non_coding_transcript_exon_variant,,ENST00000580711,;							MODERATE	1555/2073					Transcript		benign(0.003)	.	ENSP00000406738					1	
DGKE	0	LGGM	GRCh37	17	54923076	54923076	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	38	6	.	.	ENST00000284061.3:c.650G>T	p.Trp217Leu	p.W217L	ENST00000284061	NM_003647.2	217	tGg/tTg	0	1	1	UPI000012DD1F	0	NA	ENST00000284061		ENSG00000153933	2852		44	1.995		HGNC	p.W217L		DGKE		SNV			1				ENST00000284061	protein_coding	getma.org/?cm=var&var=hg19,17,54923076,G,T&fts=all		hmmpanther:PTHR11255:SF39,hmmpanther:PTHR11255,PROSITE_profiles:PS50146		W/L		T	medium	830/7768		getma.org/?cm=msa&ty=f&p=DGKE_HUMAN&rb=215&re=356&var=W217L	deleterious(0)	A1L4Q0_HUMAN			YES	DGKE,missense_variant,p.Trp217Leu,ENST00000284061,NM_003647.2;DGKE,missense_variant,p.Trp161Leu,ENST00000572944,;DGKE,non_coding_transcript_exon_variant,,ENST00000576869,;DGKE,non_coding_transcript_exon_variant,,ENST00000571084,;							MODERATE	650/1704	W217L	DGKE_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000284061		CCDS11590.1			1	
ZNF512	0	LGGM	GRCh37	2	27840427	27840427	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	24	6	.	.	ENST00000355467.4:c.1384G>A	p.Val462Ile	p.V462I	ENST00000355467	NM_001271289.1	462	Gtc/Atc	0	1	1	UPI0000141030	0	NA	ENST00000355467		ENSG00000243943	29380		30	-0.55		HGNC	p.V433I	rs756192553	ZNF512	6.06E-05	SNV							ENST00000416005	protein_coding	getma.org/?cm=var&var=hg19,2,27840427,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR22979:SF2,hmmpanther:PTHR22979,PROSITE_patterns:PS00028,Pfam_domain:PF13894,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/I		A	neutral	1467/3541	1.50E-05	getma.org/?cm=msa&ty=f&p=ZN512_HUMAN&rb=420&re=483&var=V462I	tolerated(0.09)	Q658M0_HUMAN			YES	ZNF512,missense_variant,p.Val462Ile,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,missense_variant,p.Val461Ile,ENST00000379717,;ZNF512,missense_variant,p.Val433Ile,ENST00000416005,NM_001271286.1;ZNF512,missense_variant,p.Val385Ile,ENST00000413371,;ZNF512,missense_variant,p.Val331Ile,ENST00000556601,;RP11-158I13.2,non_coding_transcript_exon_variant,,ENST00000505973,;ZNF512,non_coding_transcript_exon_variant,,ENST00000488055,;							MODERATE	1384/1704	V462I	ZN512_HUMAN			Transcript		benign(0.03)	.	ENSP00000347648	1.65E-05	CCDS1758.1			1	
FBXW8	0	LGGM	GRCh37	12	117423019	117423019	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	23	6	.	.	ENST00000309909.5:c.844A>T	p.Asn282Tyr	p.N282Y	ENST00000309909		282	Aat/Tat	0	1	1	UPI000019AB72	0	getma.org/pdb.php?prot=FBXW8_HUMAN&from=162&to=361&var=N282Y	ENST00000309909		ENSG00000174989	13597		29	0.525		HGNC	p.N282Y		FBXW8		SNV							ENST00000309909	protein_coding	getma.org/?cm=var&var=hg19,12,117423019,A,T&fts=all		Gene3D:2.130.10.10,PROSITE_patterns:PS00678,PROSITE_profiles:PS50294,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF157,SMART_domains:SM00320,Superfamily_domains:SSF50998		N/Y		T	neutral	926/2343		getma.org/?cm=msa&ty=f&p=FBXW8_HUMAN&rb=162&re=361&var=N282Y	deleterious(0.02)				YES	FBXW8,missense_variant,p.Asn216Tyr,ENST00000455858,NM_153348.2,NM_012174.1;FBXW8,missense_variant,p.Asn282Tyr,ENST00000309909,;RP11-231I16.1,non_coding_transcript_exon_variant,,ENST00000548738,;FBXW8,non_coding_transcript_exon_variant,,ENST00000551773,;							MODERATE	844/1797	N282Y	FBXW8_HUMAN			Transcript		benign(0.287)	.	ENSP00000310686		CCDS9182.1			1	
SNRNP200	0	LGGM	GRCh37	2	96957622	96957622	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	18	6	.	.	ENST00000323853.5:c.2177A>C	p.His726Pro	p.H726P	ENST00000323853	NM_014014.4	726	cAc/cCc	0	1	1	UPI0000207C53	0	getma.org/pdb.php?prot=U520_HUMAN&from=684&to=921&var=H726P	ENST00000323853		ENSG00000144028	30859		24	2.15		HGNC	p.H726P		SNRNP200		SNV			1				ENST00000323853	protein_coding	getma.org/?cm=var&var=hg19,2,96957622,T,G&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF55,Superfamily_domains:SSF52540		H/P		G	medium	2255/7165		getma.org/?cm=msa&ty=f&p=U520_HUMAN&rb=684&re=921&var=H726P	deleterious(0.01)	Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN			YES	SNRNP200,missense_variant,p.His726Pro,ENST00000323853,NM_014014.4;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,upstream_gene_variant,,ENST00000480615,;							MODERATE	2177/6411	H726P	U520_HUMAN			Transcript		benign(0.26)	.	ENSP00000317123		CCDS2020.1			1	
FAT3	0	LGGM	GRCh37	11	92577605	92577605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	48	6	.	.	ENST00000298047.6:c.11072A>T	p.Gln3691Leu	p.Q3691L	ENST00000298047		3691	cAg/cTg	0	1	1	UPI000050B6C6	0	NA	ENST00000298047		ENSG00000165323	23112		54	2.775		HGNC	p.Q3691L		FAT3		SNV							ENST00000298047	protein_coding	getma.org/?cm=var&var=hg19,11,92577605,A,T&fts=all		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33		Q/L		T	medium	11089/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=3543&re=3742&var=Q3691L		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Gln3691Leu,ENST00000298047,;FAT3,missense_variant,p.Gln3691Leu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Gln3541Leu,ENST00000525166,;FAT3,missense_variant,p.Gln26Leu,ENST00000533797,;							MODERATE	11072/13770	Q3691L	FAT3_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000298047					1	
CRTAM	0	LGGM	GRCh37	11	122726401	122726401	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	32	7	.	.	ENST00000227348.4:c.491-2A>T		p.X164_splice	ENST00000227348	NM_019604.2			0	1	1	UPI000013C8B4	0		ENST00000227348		ENSG00000109943	24313		39			HGNC	-		CRTAM		SNV							ENST00000227348	protein_coding							T		-/2469							YES	CRTAM,splice_acceptor_variant,,ENST00000227348,NM_019604.2;							HIGH	491/1182		CRTAM_HUMAN			Transcript			.	ENSP00000227348		CCDS8437.1			1	
COL24A1	0	LGGM	GRCh37	1	86210432	86210432	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	34	7	.	.	ENST00000370571.2:c.4589G>C	p.Ser1530Thr	p.S1530T	ENST00000370571	NM_152890.5	1530	aGc/aCc	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		41	1.25		HGNC	p.S1530T		COL24A1		SNV							ENST00000370571	protein_coding	getma.org/?cm=var&var=hg19,1,86210432,C,G&fts=all		PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360,SMART_domains:SM00038		S/T		G	low	4956/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=1515&re=1714&var=S1530T	deleterious(0.05)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Ser1530Thr,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Ser1509Thr,ENST00000436319,;COL24A1,coding_sequence_variant,p.=,ENST00000473734,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;							MODERATE	4589/5145	S1530T	COOA1_HUMAN			Transcript		benign(0.025)	.	ENSP00000359603		CCDS41353.1			1	
ADAM29	0	LGGM	GRCh37	4	175897112	175897112	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	57	7	.	.	ENST00000359240.3:c.436G>T	p.Glu146Ter	p.E146*	ENST00000359240	NM_014269.4	146	Gaa/Taa	0	1	1	UPI000013E9DE	0	NA	ENST00000359240		ENSG00000168594	207		64	0		HGNC	p.E146X	COSM1181806	ADAM29		SNV						1	ENST00000514159	protein_coding	getma.org/?cm=var&var=hg19,4,175897112,G,T&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Pfam_domain:PF01562		E/*		T	NA	1106/3325		NA		D6RHU0_HUMAN,D6RBU0_HUMAN			YES	ADAM29,stop_gained,p.Glu146Ter,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,stop_gained,p.Glu146Ter,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,stop_gained,p.Glu146Ter,ENST00000404450,NM_001130704.1;ADAM29,stop_gained,p.Glu146Ter,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,;					1		HIGH	436/2463	E146*	ADA29_HUMAN			Transcript			.	ENSP00000352177		CCDS3823.1			1	
COL12A1	0	LGGM	GRCh37	6	75865558	75865558	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	34	7	.	.	ENST00000322507.8:c.3263A>T	p.Lys1088Met	p.K1088M	ENST00000322507	NM_004370.5	1088	aAg/aTg	0	1	1	UPI000045890B	0	NA	ENST00000322507		ENSG00000111799	2188		41	1.5		HGNC	p.K1088M		COL12A1		SNV			1				ENST00000483888	protein_coding	getma.org/?cm=var&var=hg19,6,75865558,T,A&fts=all		hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		K/M		A	low	3573/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=1088&re=1168&var=K1088M					YES	COL12A1,missense_variant,p.Lys1088Met,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Lys1088Met,ENST00000483888,;COL12A1,missense_variant,p.Lys1088Met,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,upstream_gene_variant,,ENST00000419671,;							MODERATE	3263/9192	K1088M	COCA1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000325146		CCDS43482.1			1	
NMRK2	0	LGGM	GRCh37	19	3941104	3941104	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	25	7	.	.	ENST00000168977.2:c.431T>C	p.Leu144Pro	p.L144P	ENST00000168977	NM_170678.2	144	cTc/cCc	0	1	1	UPI000006CD83	0	getma.org/pdb.php?prot=NRK2_HUMAN&from=5&to=162&var=L144P	ENST00000168977		ENSG00000077009	17871		32	1.975		HGNC	p.L144P		NMRK2		SNV							ENST00000168977	protein_coding	getma.org/?cm=var&var=hg19,19,3941104,T,C&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23404,hmmpanther:PTHR23404:SF7,Superfamily_domains:SSF52540		L/P		C	medium	721/1126		getma.org/?cm=msa&ty=f&p=NRK2_HUMAN&rb=5&re=162&var=L144P	deleterious(0)				YES	NMRK2,missense_variant,p.Leu144Pro,ENST00000168977,NM_170678.2;NMRK2,missense_variant,p.Leu149Pro,ENST00000593949,;NMRK2,intron_variant,,ENST00000599576,;NMRK2,3_prime_UTR_variant,,ENST00000597889,;							MODERATE	431/693	L144P	NRK2_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000168977		CCDS12115.1			1	
VILL	0	LGGM	GRCh37	3	38037338	38037338	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	14	7	.	.	ENST00000283713.6:c.450G>A	p.Glu150=	p.E150=	ENST00000283713		150	gaG/gaA	0	1	1	UPI000022BFB0	0		ENST00000283713		ENSG00000136059	30906		21			HGNC	p.E150E		VILL		SNV							ENST00000383759	protein_coding			Gene3D:3.40.20.10,Pfam_domain:PF00626,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF30,SMART_domains:SM00262,Superfamily_domains:SSF82754		E		A		716/2970				E9PFV5_HUMAN,C9JUR8_HUMAN			YES	VILL,splice_region_variant,p.=,ENST00000283713,;VILL,splice_region_variant,p.=,ENST00000383759,NM_015873.3;VILL,splice_region_variant,p.=,ENST00000492491,;VILL,intron_variant,,ENST00000465644,;VILL,downstream_gene_variant,,ENST00000416303,;VILL,splice_region_variant,,ENST00000484717,;VILL,upstream_gene_variant,,ENST00000463080,;VILL,upstream_gene_variant,,ENST00000412008,;VILL,downstream_gene_variant,,ENST00000460040,;							LOW	450/2571		VILL_HUMAN			Transcript			.	ENSP00000283713		CCDS2670.2			1	
TFEC	0	LGGM	GRCh37	7	115582028	115582028	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	91	7	.	.	ENST00000265440.7:c.582A>T	p.Lys194Asn	p.K194N	ENST00000265440	NM_012252.3	194	aaA/aaT	0	1	1	UPI000006CC81	0	NA	ENST00000265440		ENSG00000105967	11754		98	1.765		HGNC	p.K165N		TFEC		SNV							ENST00000393485	protein_coding	getma.org/?cm=var&var=hg19,7,115582028,T,A&fts=all		Gene3D:4.10.280.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF13,SMART_domains:SM00353,Superfamily_domains:SSF47459		K/N		A	low	763/6628		getma.org/?cm=msa&ty=f&p=TFEC_HUMAN&rb=194&re=224&var=K194N	deleterious(0)	Q75MG2_HUMAN,Q75KY0_HUMAN			YES	TFEC,missense_variant,p.Lys194Asn,ENST00000265440,NM_012252.3;TFEC,missense_variant,p.Lys165Asn,ENST00000320239,NM_001018058.2;TFEC,missense_variant,p.Lys127Asn,ENST00000457268,NM_001244583.1;TFEC,missense_variant,p.Lys165Asn,ENST00000393485,;TFEC,missense_variant,p.Lys284Asn,ENST00000484212,;TFEC,non_coding_transcript_exon_variant,,ENST00000462828,;							MODERATE	582/1044	K194N	TFEC_HUMAN			Transcript		benign(0.342)	.	ENSP00000265440		CCDS5762.1			1	
SENP2	0	LGGM	GRCh37	3	185347616	185347616	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	20	7	.	.	ENST00000296257.5:c.1754A>T	p.His585Leu	p.H585L	ENST00000296257	NM_021627.2	585	cAt/cTt	0	1	1	UPI000007452F	0	getma.org/pdb.php?prot=SENP2_HUMAN&from=409&to=588&var=H585L	ENST00000296257		ENSG00000163904	23116		27	2.28		HGNC	p.H585L	COSM1537213,COSM1537212	SENP2		SNV						1,1	ENST00000296257	protein_coding	getma.org/?cm=var&var=hg19,3,185347616,A,T&fts=all		hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF11,Superfamily_domains:SSF54001		H/L		T	medium	1994/5717		getma.org/?cm=msa&ty=f&p=SENP2_HUMAN&rb=409&re=588&var=H585L	deleterious(0)	J3KQD2_HUMAN,B4E2S4_HUMAN			YES	SENP2,missense_variant,p.His585Leu,ENST00000296257,NM_021627.2;SENP2,missense_variant,p.His409Leu,ENST00000427465,;SENP2,missense_variant,p.His575Leu,ENST00000545472,;SENP2,downstream_gene_variant,,ENST00000444509,;SENP2,3_prime_UTR_variant,,ENST00000413407,;					1,1		MODERATE	1754/1770	H585L	SENP2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000296257		CCDS33902.1			1	
PALLD	0	LGGM	GRCh37	4	169604195	169604195	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	26	7	.	.	ENST00000505667.1:c.1201T>A	p.Ser401Thr	p.S401T	ENST00000505667		401	Tct/Act	0	1	1	UPI000189A85C	0	NA	ENST00000505667		ENSG00000129116	17068		33	1.845		HGNC	p.S401T		PALLD		SNV			1				ENST00000505667	protein_coding	getma.org/?cm=var&var=hg19,4,169604195,T,A&fts=all		hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF152		S/T		A	low	1374/3637		getma.org/?cm=msa&ty=f&p=PALLD_HUMAN&rb=362&re=440&var=S401T	tolerated(0.12)	Q4W5A6_HUMAN,D6RBH5_HUMAN,D6RBB1_HUMAN,D6R9Z5_HUMAN,D6R948_HUMAN			YES	PALLD,missense_variant,p.Ser19Thr,ENST00000335742,;PALLD,missense_variant,p.Ser401Thr,ENST00000261509,NM_001166108.1,NM_016081.3;PALLD,missense_variant,p.Ser401Thr,ENST00000505667,;PALLD,missense_variant,p.Ser19Thr,ENST00000512127,NM_001166109.1;PALLD,missense_variant,p.Ser278Thr,ENST00000333488,;PALLD,missense_variant,p.Ser380Thr,ENST00000508898,;PALLD,missense_variant,p.Ser19Thr,ENST00000503457,;PALLD,missense_variant,p.Ser19Thr,ENST00000504519,;PALLD,missense_variant,p.Ser19Thr,ENST00000513245,;RNU6-1336P,downstream_gene_variant,,ENST00000383886,;							MODERATE	1201/3372	S401T	PALLD_HUMAN			Transcript		benign(0.196)	.	ENSP00000425556		CCDS54818.1			1	
RIMS1	0	LGGM	GRCh37	6	73000511	73000511	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	55	8	.	.	ENST00000521978.1:c.3684T>G	p.Ser1228=	p.S1228=	ENST00000521978	NM_014989.5	1228	tcT/tcG	0	1	1	UPI00001908FB	0		ENST00000521978		ENSG00000079841	17282		63			HGNC	p.S1228S		RIMS1		SNV			1				ENST00000521978	protein_coding			hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19		S		G		3684/5079							YES	RIMS1,synonymous_variant,p.=,ENST00000521978,NM_014989.5;RIMS1,intron_variant,,ENST00000264839,;RIMS1,intron_variant,,ENST00000348717,;RIMS1,intron_variant,,ENST00000491071,;RIMS1,intron_variant,,ENST00000520567,;RIMS1,intron_variant,,ENST00000517960,;RIMS1,intron_variant,,ENST00000518273,;RIMS1,intron_variant,,ENST00000522291,;RIMS1,intron_variant,,ENST00000401910,NM_001168407.1;RIMS1,intron_variant,,ENST00000517433,;RIMS1,intron_variant,,ENST00000523963,NM_001168408.1;RIMS1,intron_variant,,ENST00000517827,NM_001168410.1;RIMS1,intron_variant,,ENST00000425662,NM_001168409.1;RIMS1,intron_variant,,ENST00000453976,;RIMS1,intron_variant,,ENST00000538414,;RIMS1,intron_variant,,ENST00000522211,;RIMS1,intron_variant,,ENST00000370420,;RIMS1,intron_variant,,ENST00000463023,;							LOW	3684/5079		RIMS1_HUMAN			Transcript			.	ENSP00000428417		CCDS47449.1			1	
SMG9	0	LGGM	GRCh37	19	44237577	44237577	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	29	8	.	.	ENST00000270066.6:c.1238T>C	p.Val413Ala	p.V413A	ENST00000270066	NM_019108.2	413	gTc/gCc	0	1	1	UPI0000037B1C	0	NA	ENST00000270066		ENSG00000105771	25763		37	0.55		HGNC	p.V413A		SMG9		SNV							ENST00000601170	protein_coding	getma.org/?cm=var&var=hg19,19,44237577,A,G&fts=all		hmmpanther:PTHR14270,hmmpanther:PTHR14270:SF0		V/A		G	neutral	1581/2353		getma.org/?cm=msa&ty=f&p=SMG9_HUMAN&rb=390&re=520&var=V413A	tolerated(0.36)	M0R2N0_HUMAN,M0QZH1_HUMAN,M0QZC7_HUMAN,M0QYR7_HUMAN,M0QX70_HUMAN			YES	SMG9,missense_variant,p.Val413Ala,ENST00000601170,;SMG9,missense_variant,p.Val413Ala,ENST00000270066,NM_019108.2;SMG9,non_coding_transcript_exon_variant,,ENST00000598860,;SMG9,non_coding_transcript_exon_variant,,ENST00000594081,;SMG9,downstream_gene_variant,,ENST00000595700,;SMG9,downstream_gene_variant,,ENST00000597598,;SMG9,upstream_gene_variant,,ENST00000600097,;							MODERATE	1238/1563	V413A	SMG9_HUMAN			Transcript		benign(0.002)	.	ENSP00000270066		CCDS33043.2			1	
ACSS2	0	LGGM	GRCh37	20	33503058	33503058	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	53	10	.	.	ENST00000253382.5:c.872A>T	p.Gln291Leu	p.Q291L	ENST00000253382	NM_001076552.2	291	cAg/cTg	0	1		UPI00001253B3	0	getma.org/pdb.php?prot=Q5QPH3_HUMAN&from=137&to=612&var=Q291L	ENST00000360596		ENSG00000131069	15814		63	1.23		HGNC	p.Q291L	rs774997444	ACSS2		SNV							ENST00000253382	protein_coding	getma.org/?cm=var&var=hg19,20,33503058,A,T&fts=all						T	low	-/3065	1.51E-05	getma.org/?cm=msa&ty=f&p=Q5QPH3_HUMAN&rb=137&re=612&var=Q291L		Q96FY7_HUMAN,Q6DKJ3_HUMAN,Q4G0E8_HUMAN,F8WCJ4_HUMAN,B3KUV2_HUMAN				ACSS2,missense_variant,p.Gln291Leu,ENST00000253382,NM_001076552.2;ACSS2,intron_variant,,ENST00000360596,NM_018677.3;ACSS2,intron_variant,,ENST00000336325,NM_001242393.1;ACSS2,downstream_gene_variant,,ENST00000473172,;ACSS2,downstream_gene_variant,,ENST00000488172,;ACSS2,downstream_gene_variant,,ENST00000493805,;ACSS2,downstream_gene_variant,,ENST00000484354,;ACSS2,intron_variant,,ENST00000476922,;ACSS2,intron_variant,,ENST00000493250,;ACSS2,intron_variant,,ENST00000468550,;ACSS2,downstream_gene_variant,,ENST00000481971,;ACSS2,downstream_gene_variant,,ENST00000467019,;ACSS2,downstream_gene_variant,,ENST00000464399,;ACSS2,intron_variant,,ENST00000481284,;ACSS2,intron_variant,,ENST00000477932,;ACSS2,intron_variant,,ENST00000480978,;ACSS2,intron_variant,,ENST00000475459,;ACSS2,downstream_gene_variant,,ENST00000480274,;							MODIFIER	-/2106	Q291L	ACSA_HUMAN			Transcript			.	ENSP00000353804	8.30E-06	CCDS13243.1			1	
HS3ST6	0	LGGM	GRCh37	16	1961879	1961879	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	29	10	.	.	ENST00000443547.1:c.648C>T	p.Val216=	p.V216=	ENST00000443547	NM_001009606.2	216	gtC/gtT	0	1		UPI00004E18B8	0		ENST00000293937		ENSG00000162040	14178		39			HGNC	p.V216V		HS3ST6		SNV							ENST00000443547	protein_coding			hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF7,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		V		A		741/1156				C9JH64_HUMAN				HS3ST6,synonymous_variant,p.=,ENST00000454677,;HS3ST6,synonymous_variant,p.=,ENST00000293937,;HS3ST6,synonymous_variant,p.=,ENST00000443547,NM_001009606.2;							LOW	741/1029		HS3S6_HUMAN			Transcript			.	ENSP00000293937					1	
CRELD1	0	LGGM	GRCh37	3	9982885	9982885	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	19	10	.	.	ENST00000326434.5:c.728G>A	p.Cys243Tyr	p.C243Y	ENST00000326434	NM_001031717.3	243	tGt/tAt	0	1		UPI000013E2E5	0	NA	ENST00000383811		ENSG00000163703	14630	8.69E-05	29	2.73		HGNC	p.C243Y	rs778286331	CRELD1		SNV			1				ENST00000383811	protein_coding	getma.org/?cm=var&var=hg19,3,9982885,G,A&fts=all		hmmpanther:PTHR24838:SF251,hmmpanther:PTHR24838,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184		C/Y		A	medium	1327/2696		getma.org/?cm=msa&ty=f&p=CREL1_HUMAN&rb=144&re=244&var=C243Y	deleterious(0)					CRELD1,missense_variant,p.Cys243Tyr,ENST00000383811,NM_015513.4;CRELD1,missense_variant,p.Cys243Tyr,ENST00000326434,NM_001031717.3;CRELD1,missense_variant,p.Cys243Tyr,ENST00000452070,NM_001077415.2;CRELD1,missense_variant,p.Cys243Tyr,ENST00000397170,;PRRT3,downstream_gene_variant,,ENST00000412055,NM_207351.3;CRELD1,upstream_gene_variant,,ENST00000435417,;RP11-1020A11.1,downstream_gene_variant,,ENST00000602411,;CRELD1,non_coding_transcript_exon_variant,,ENST00000489674,;CRELD1,3_prime_UTR_variant,,ENST00000414117,;CRELD1,non_coding_transcript_exon_variant,,ENST00000467713,;PRRT3,downstream_gene_variant,,ENST00000295984,;CRELD1,downstream_gene_variant,,ENST00000465716,;CRELD1,upstream_gene_variant,,ENST00000482691,;							MODERATE	728/1263	C243Y	CREL1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000373322	8.24E-06	CCDS2593.1			1	
ZFYVE9	0	LGGM	GRCh37	1	52769598	52769598	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	37	11	.	.	ENST00000287727.3:c.3438+1G>T		p.X1146_splice	ENST00000287727	NM_004799.3			0	1	1	UPI0000001620	0		ENST00000287727		ENSG00000157077	6775		48			HGNC	-		ZFYVE9		SNV							ENST00000287727	protein_coding							T		-/4914							YES	ZFYVE9,splice_donor_variant,,ENST00000287727,NM_004799.3;ZFYVE9,splice_donor_variant,,ENST00000371591,;ZFYVE9,splice_donor_variant,,ENST00000357206,NM_007324.3;ZFYVE9,splice_donor_variant,,ENST00000469134,;							HIGH	3438/4278		ZFYV9_HUMAN			Transcript			.	ENSP00000287727		CCDS563.1			1	
TNRC6C	0	LGGM	GRCh37	17	76046114	76046114	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	28	11	.	.	ENST00000335749.4:c.971A>T	p.His324Leu	p.H324L	ENST00000335749	NM_001142640.1	324	cAt/cTt	0	1		UPI00001B5D28	0	NA	ENST00000301624		ENSG00000078687	29318		39	1.61		HGNC	p.H324L		TNRC6C		SNV							ENST00000301624	protein_coding	getma.org/?cm=var&var=hg19,17,76046114,A,T&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF9		H/L		T	low	1540/9632		getma.org/?cm=msa&ty=f&p=TNR6C_HUMAN&rb=201&re=400&var=H324L	tolerated(0.2)	K7ELY5_HUMAN,K7EKN9_HUMAN				TNRC6C,missense_variant,p.His324Leu,ENST00000335749,NM_001142640.1;TNRC6C,missense_variant,p.His324Leu,ENST00000301624,NM_018996.3;TNRC6C,missense_variant,p.His324Leu,ENST00000588847,;TNRC6C,missense_variant,p.His324Leu,ENST00000588061,;TNRC6C,missense_variant,p.His324Leu,ENST00000541771,;TNRC6C,missense_variant,p.His324Leu,ENST00000544502,;TNRC6C,intron_variant,,ENST00000585438,;TNRC6C,downstream_gene_variant,,ENST00000588549,;TNRC6C,upstream_gene_variant,,ENST00000591851,;							MODERATE	971/5073	H324L	TNR6C_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000301624		CCDS45798.1			1	
PRKCH	0	LGGM	GRCh37	14	61920008	61920008	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	18	11	.	.	ENST00000332981.5:c.897G>A	p.Ala299=	p.A299=	ENST00000332981	NM_006255.3	299	gcG/gcA	0	1	1	UPI0000073BBF	0		ENST00000332981		ENSG00000027075	9403		29			HGNC	p.A299A	rs759245010	PRKCH		SNV			1				ENST00000332981	protein_coding			Gene3D:3.30.60.20,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501107,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF51		A		A		1282/3582	1.50E-05			G3V5U5_HUMAN,G3V5F8_HUMAN,G3V520_HUMAN,G3V4X4_HUMAN,G3V4Q9_HUMAN,G3V4Q6_HUMAN,G3V4L3_HUMAN,G3V4H0_HUMAN,G3V3E7_HUMAN,G3V304_HUMAN,B4DV01_HUMAN,B4DJN5_HUMAN			YES	PRKCH,synonymous_variant,p.=,ENST00000332981,NM_006255.3;PRKCH,synonymous_variant,p.=,ENST00000555082,;PRKCH,synonymous_variant,p.=,ENST00000557585,;PRKCH,synonymous_variant,p.=,ENST00000553726,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,downstream_gene_variant,,ENST00000557473,;PRKCH,downstream_gene_variant,,ENST00000553265,;PRKCH,downstream_gene_variant,,ENST00000553831,;PRKCH,downstream_gene_variant,,ENST00000556778,;PRKCH,downstream_gene_variant,,ENST00000555906,;PRKCH,downstream_gene_variant,,ENST00000556164,;PRKCH,non_coding_transcript_exon_variant,,ENST00000553889,;PRKCH,upstream_gene_variant,,ENST00000557559,;PRKCH,upstream_gene_variant,,ENST00000555604,;							LOW	897/2052		KPCL_HUMAN			Transcript			.	ENSP00000329127	8.24E-06	CCDS9752.1			1	
ZFYVE9	0	LGGM	GRCh37	1	52769597	52769597	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	37	11	.	.	ENST00000287727.3:c.3438G>T	p.Glu1146Asp	p.E1146D	ENST00000287727	NM_004799.3	1146	gaG/gaT	0	1	1	UPI0000001620	0	NA	ENST00000287727		ENSG00000157077	6775		48	0.82		HGNC	p.E1087D		ZFYVE9		SNV							ENST00000357206	protein_coding	getma.org/?cm=var&var=hg19,1,52769597,G,T&fts=all		Pfam_domain:PF11979,PIRSF_domain:PIRSF037289		E/D		T	low	3610/4914		getma.org/?cm=msa&ty=f&p=ZFYV9_HUMAN&rb=1047&re=1400&var=E1146D	tolerated(0.33)				YES	ZFYVE9,missense_variant,p.Glu1146Asp,ENST00000287727,NM_004799.3;ZFYVE9,missense_variant,p.Glu1146Asp,ENST00000371591,;ZFYVE9,missense_variant,p.Glu1087Asp,ENST00000357206,NM_007324.3;ZFYVE9,splice_region_variant,,ENST00000469134,;							MODERATE	3438/4278	E1146D	ZFYV9_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000287727		CCDS563.1			1	
GABRA6	0	LGGM	GRCh37	5	161113291	161113291	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	84	11	.	.	ENST00000274545.5:c.94G>C	p.Val32Leu	p.V32L	ENST00000274545		32	Gtc/Ctc	0	1	1	UPI000013DA14	0	NA	ENST00000274545		ENSG00000145863	4080		95	0.715		HGNC	p.V32L		GABRA6		SNV							ENST00000274545	protein_coding	getma.org/?cm=var&var=hg19,5,161113291,G,C&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932,Prints_domain:PR01079		V/L		C	neutral	527/2128		getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=V32L	deleterious(0.03)	Q71UU0_HUMAN			YES	GABRA6,missense_variant,p.Val32Leu,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Val32Leu,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,;							MODERATE	94/1362	V32L	GBRA6_HUMAN			Transcript		benign(0.03)	.	ENSP00000274545		CCDS4356.1			1	
KNDC1	0	LGGM	GRCh37	10	135032406	135032406	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	47	11	.	.	ENST00000304613.3:c.4749A>T	p.Thr1583=	p.T1583=	ENST00000304613		1583	acA/acT	0	1	1	UPI00003529F7	0		ENST00000304613		ENSG00000171798	29374		58			HGNC	p.T1583T		KNDC1		SNV							ENST00000304613	protein_coding			Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR21560:SF0,hmmpanther:PTHR21560,PROSITE_profiles:PS50009		T		T		4770/6793				B4DFN0_HUMAN			YES	KNDC1,synonymous_variant,p.=,ENST00000304613,;KNDC1,synonymous_variant,p.=,ENST00000368572,NM_152643.6;							LOW	4749/5250		VKIND_HUMAN			Transcript			.	ENSP00000304437		CCDS7674.1			1	
NTRK3	0	LGGM	GRCh37	15	88483854	88483854	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	37	12	.	.	ENST00000360948.2:c.1716G>C	p.Lys572Asn	p.K572N	ENST00000360948	NM_001012338.2	572	aaG/aaC	0	1	1	UPI000006DC82	0	getma.org/pdb.php?prot=NTRK3_HUMAN&from=538&to=824&var=K572N	ENST00000360948		ENSG00000140538	8033		49	3.845		HGNC	p.K572N		NTRK3		SNV			1				ENST00000360948	protein_coding	getma.org/?cm=var&var=hg19,15,88483854,C,G&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112		K/N		G	high	1878/2826		getma.org/?cm=msa&ty=f&p=NTRK3_HUMAN&rb=538&re=824&var=K572N	deleterious(0)	R4GNH5_HUMAN			YES	NTRK3,missense_variant,p.Lys572Asn,ENST00000394480,NM_002530.3,NM_001243101.1;NTRK3,missense_variant,p.Lys572Asn,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Lys564Asn,ENST00000357724,;NTRK3,missense_variant,p.Lys572Asn,ENST00000355254,;NTRK3,missense_variant,p.Lys564Asn,ENST00000557856,;NTRK3,missense_variant,p.Lys564Asn,ENST00000558676,;NTRK3,missense_variant,p.Lys474Asn,ENST00000542733,;NTRK3,splice_region_variant,,ENST00000559680,;							MODERATE	1716/2520	K572N	NTRK3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354207		CCDS32322.1			1	
POLR2M	0	LGGM	GRCh37	15	58001098	58001098	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	31	12	.	.	ENST00000299638.3:c.300G>A	p.Gln100=	p.Q100=	ENST00000299638	NM_015532.3	100	caG/caA	0	1	1	UPI000000D78C	0		ENST00000299638		ENSG00000255529	14862		43			HGNC	p.Q497Q		POLR2M		SNV							ENST00000587652	protein_coding			hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF5,Pfam_domain:PF15328		Q		A		514/4199				E9PP13_HUMAN			YES	POLR2M,synonymous_variant,p.=,ENST00000299638,NM_015532.3,NM_001285900.1;POLR2M,synonymous_variant,p.=,ENST00000380563,;GCOM1,synonymous_variant,p.=,ENST00000587652,;POLR2M,intron_variant,,ENST00000380557,NM_001018102.1;GCOM1,intron_variant,,ENST00000380569,NM_001018090.4;GCOM1,intron_variant,,ENST00000380568,NM_001018091.4;GCOM1,downstream_gene_variant,,ENST00000380561,;POLR2M,non_coding_transcript_exon_variant,,ENST00000464308,;POLR2M,non_coding_transcript_exon_variant,,ENST00000567643,;GCOM1,intron_variant,,ENST00000484300,;POLR2M,synonymous_variant,p.=,ENST00000482852,;GCOM1,3_prime_UTR_variant,,ENST00000460962,;POLR2M,3_prime_UTR_variant,,ENST00000494490,;POLR2M,3_prime_UTR_variant,,ENST00000464277,;GCOM1,intron_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000463717,;GCOM1,intron_variant,,ENST00000482814,;GCOM1,intron_variant,,ENST00000477282,;GCOM1,downstream_gene_variant,,ENST00000488175,;GCOM1,downstream_gene_variant,,ENST00000468886,;GCOM1,downstream_gene_variant,,ENST00000471563,;GCOM1,downstream_gene_variant,,ENST00000496101,;							LOW	300/1107		GRL1A_HUMAN			Transcript			.	ENSP00000299638		CCDS32252.1			1	
OR10A4	0	LGGM	GRCh37	11	6898345	6898345	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	28	12	.	.	ENST00000379829.2:c.467T>G	p.Val156Gly	p.V156G	ENST00000379829	NM_207186.2	156	gTg/gGg	0	1	1	UPI000013EBED	0	NA	ENST00000379829		ENSG00000170782	15130		40	1.235		HGNC	p.V156G		OR10A4		SNV							ENST00000379829	protein_coding	getma.org/?cm=var&var=hg19,11,6898345,T,G&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453:SF9,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		V/G		G	low	490/995		getma.org/?cm=msa&ty=f&p=O10A4_HUMAN&rb=140&re=284&var=V156G	deleterious(0.02)				YES	OR10A4,missense_variant,p.Val156Gly,ENST00000379829,NM_207186.2;							MODERATE	467/948	V156G	O10A4_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000369157		CCDS7774.1			1	
MYPN	0	LGGM	GRCh37	10	69905230	69905230	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	25	13	.	.	ENST00000358913.5:c.1079-2A>T		p.X360_splice	ENST00000358913	NM_032578.3			0	1	1	UPI00002288CF	0		ENST00000358913		ENSG00000138347	23246		38			HGNC	-		MYPN		SNV			1				ENST00000354393	protein_coding							T		-/6013				A5PKT7_HUMAN			YES	MYPN,splice_acceptor_variant,,ENST00000358913,NM_032578.3,NM_001256267.1;MYPN,splice_acceptor_variant,,ENST00000540630,;MYPN,splice_acceptor_variant,,ENST00000354393,;MYPN,splice_acceptor_variant,,ENST00000373675,;							HIGH	1079/3963		MYPN_HUMAN			Transcript			.	ENSP00000351790		CCDS7275.1			1	
AP3M2	0	LGGM	GRCh37	8	42019865	42019865	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	123	13	.	.	ENST00000518421.1:c.512G>A	p.Gly171Glu	p.G171E	ENST00000518421	NM_001134296.1	171	gGg/gAg	0	1		UPI0000125033	0	getma.org/pdb.php?prot=AP3M2_HUMAN&from=165&to=418&var=G171E	ENST00000174653		ENSG00000070718	570		136	2.77		HGNC	p.G56E		AP3M2		SNV							ENST00000521280	protein_coding	getma.org/?cm=var&var=hg19,8,42019865,G,A&fts=all		hmmpanther:PTHR11998:SF20,hmmpanther:PTHR11998,PROSITE_patterns:PS00990,Pfam_domain:PF00928,Gene3D:2.60.40.1170,PIRSF_domain:PIRSF005992,Superfamily_domains:0038852		G/E		A	medium	794/3661		getma.org/?cm=msa&ty=f&p=AP3M2_HUMAN&rb=165&re=418&var=G171E	deleterious(0)	H0YBM0_HUMAN,E5RJ52_HUMAN,E5RI83_HUMAN				AP3M2,missense_variant,p.Gly171Glu,ENST00000518421,NM_001134296.1;AP3M2,missense_variant,p.Gly171Glu,ENST00000174653,NM_006803.3;AP3M2,missense_variant,p.Gly171Glu,ENST00000396926,;AP3M2,missense_variant,p.Gly171Glu,ENST00000517922,;AP3M2,missense_variant,p.Gly56Glu,ENST00000521280,;AP3M2,intron_variant,,ENST00000517499,;AP3M2,downstream_gene_variant,,ENST00000522288,;AP3M2,upstream_gene_variant,,ENST00000522606,;AP3M2,intron_variant,,ENST00000520685,;AP3M2,missense_variant,p.Gly171Glu,ENST00000530375,;AP3M2,3_prime_UTR_variant,,ENST00000517865,;AP3M2,non_coding_transcript_exon_variant,,ENST00000523249,;AP3M2,non_coding_transcript_exon_variant,,ENST00000521899,;AP3M2,upstream_gene_variant,,ENST00000522320,;							MODERATE	512/1257	G171E	AP3M2_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000174653		CCDS6125.1			1	
OSR2	0	LGGM	GRCh37	8	99961182	99961182	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	39	13	.	.	ENST00000297565.4:c.2T>C	p.Met1?	p.M1?	ENST00000297565	NM_001142462.1	1	aTg/aCg	0	1	1	UPI00001AEC4D	0	NA	ENST00000297565		ENSG00000164920	15830		52	0		HGNC	p.M54T		OSR2		SNV							ENST00000520951	protein_coding	getma.org/?cm=var&var=hg19,8,99961182,T,C&fts=all		hmmpanther:PTHR14196:SF4,hmmpanther:PTHR14196		M/T		C	NA	498/1838		http://getma.org/?cm=msa&ty=f&p=OSR2_HUMAN&rb=1&re=30&var=M1T	deleterious_low_confidence(0)	E5RH47_HUMAN			YES	OSR2,start_lost,p.Met1?,ENST00000297565,NM_001142462.1;OSR2,start_lost,p.Met1?,ENST00000435298,NM_053001.2;OSR2,start_lost,p.Met1?,ENST00000522510,;OSR2,start_lost,p.Met1?,ENST00000523368,;OSR2,start_lost,p.Met1?,ENST00000518199,;OSR2,missense_variant,p.Met122Thr,ENST00000457907,NM_001286841.1;OSR2,missense_variant,p.Met54Thr,ENST00000520951,;RP11-44N12.5,downstream_gene_variant,,ENST00000606778,;OSR2,intron_variant,,ENST00000521044,;OSR2,intron_variant,,ENST00000520722,;OSR2,downstream_gene_variant,,ENST00000520791,;							HIGH	2/939	M1T	OSR2_HUMAN			Transcript		benign(0)	.	ENSP00000297565		CCDS47901.1			1	
ALG10B	0	LGGM	GRCh37	12	38712261	38712261	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	54	14	.	.	ENST00000308742.4:c.369+1G>A		p.X123_splice	ENST00000308742	NM_001013620.3			0	1	1	UPI000013EDA4	0		ENST00000308742		ENSG00000175548	31088		68			HGNC	-		ALG10B		SNV							ENST00000308742	protein_coding							A		-/3111							YES	ALG10B,splice_donor_variant,,ENST00000308742,NM_001013620.3;ALG10B,splice_donor_variant,,ENST00000551464,;AC117372.1,downstream_gene_variant,,ENST00000401168,;ALG10B,splice_donor_variant,,ENST00000553138,;ALG10B,splice_donor_variant,,ENST00000548240,;							HIGH	369/1422		AG10B_HUMAN			Transcript			.	ENSP00000310120		CCDS31772.1			1	
NARF	0	LGGM	GRCh37	17	80443395	80443395	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	40	14	.	.	ENST00000309794.11:c.994A>G	p.Thr332Ala	p.T332A	ENST00000309794	NM_031968.2	332	Acc/Gcc	0	1	1	UPI0000073D0C	0	getma.org/pdb.php?prot=NARF_HUMAN&from=92&to=385&var=T332A	ENST00000309794		ENSG00000141562	29916		54	1.2		HGNC	p.T284A	COSM986140	NARF		SNV						1	ENST00000345415	protein_coding	getma.org/?cm=var&var=hg19,17,80443395,A,G&fts=all		Superfamily_domains:SSF53920,Pfam_domain:PF02906,hmmpanther:PTHR11615:SF124,hmmpanther:PTHR11615		T/A		G	low	1192/3949		getma.org/?cm=msa&ty=f&p=NARF_HUMAN&rb=92&re=385&var=T332A	deleterious(0.03)	J3QSD9_HUMAN,J3QRB0_HUMAN,J3QL28_HUMAN,J3KS03_HUMAN,B5KGZ1_HUMAN			YES	NARF,missense_variant,p.Thr332Ala,ENST00000309794,NM_031968.2,NM_012336.3;NARF,missense_variant,p.Thr273Ala,ENST00000390006,NM_001038618.2;NARF,missense_variant,p.Thr378Ala,ENST00000457415,;NARF,missense_variant,p.Thr284Ala,ENST00000345415,NM_001083608.1;NARF,missense_variant,p.Thr74Ala,ENST00000584513,;NARF,downstream_gene_variant,,ENST00000412079,;NARF,downstream_gene_variant,,ENST00000577410,;NARF,downstream_gene_variant,,ENST00000577432,;NARF-IT1,downstream_gene_variant,,ENST00000584012,;NARF,3_prime_UTR_variant,,ENST00000374611,;NARF,3_prime_UTR_variant,,ENST00000582907,;NARF,non_coding_transcript_exon_variant,,ENST00000577812,;NARF,non_coding_transcript_exon_variant,,ENST00000584445,;NARF,non_coding_transcript_exon_variant,,ENST00000578820,;NARF,intron_variant,,ENST00000583908,;NARF,intron_variant,,ENST00000584965,;NARF,downstream_gene_variant,,ENST00000581795,;NARF,downstream_gene_variant,,ENST00000581202,;					1		MODERATE	994/1371	T332A	NARF_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000309899		CCDS32777.1			1	
DCHS1	0	LGGM	GRCh37	11	6646864	6646864	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	74	14	.	.	ENST00000299441.3:c.6826A>T	p.Thr2276Ser	p.T2276S	ENST00000299441	NM_003737.2	2276	Acc/Tcc	0	1	1	UPI00001313B6	0	getma.org/pdb.php?prot=PCD16_HUMAN&from=2172&to=2277&var=T2276S	ENST00000299441		ENSG00000166341	13681		88	0.86		HGNC	p.T2276S		DCHS1		SNV			1				ENST00000299441	protein_coding	getma.org/?cm=var&var=hg19,11,6646864,T,A&fts=all		Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		T/S		A	low	7238/10763		getma.org/?cm=msa&ty=f&p=PCD16_HUMAN&rb=2172&re=2277&var=T2276S	tolerated(0.07)				YES	DCHS1,missense_variant,p.Thr2276Ser,ENST00000299441,NM_003737.2;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;							MODERATE	6826/9897	T2276S	PCD16_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000299441		CCDS7771.1			1	
FAM179B	0	LGGM	GRCh37	14	45433342	45433342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	31	15	.	.	ENST00000361577.3:c.1718T>C	p.Leu573Ser	p.L573S	ENST00000361577	NM_015091.2	573	tTg/tCg	0	1	1	UPI00001C1F79	0	NA	ENST00000361577		ENSG00000198718	19959		46	2.265		HGNC	p.L573S		FAM179B		SNV							ENST00000382233	protein_coding	getma.org/?cm=var&var=hg19,14,45433342,T,C&fts=all		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6		L/S		C	medium	1932/6247		getma.org/?cm=msa&ty=f&p=F179B_HUMAN&rb=401&re=600&var=L573S	deleterious(0)				YES	FAM179B,missense_variant,p.Leu573Ser,ENST00000361462,;FAM179B,missense_variant,p.Leu573Ser,ENST00000361577,NM_015091.2;FAM179B,missense_variant,p.Leu573Ser,ENST00000382233,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000396128,NM_017658.3;KLHL28,upstream_gene_variant,,ENST00000355081,;KLHL28,upstream_gene_variant,,ENST00000556500,;KLHL28,upstream_gene_variant,,ENST00000579157,;KLHL28,upstream_gene_variant,,ENST00000557468,;KLHL28,intron_variant,,ENST00000553817,;FAM179B,missense_variant,p.Leu573Ser,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;							MODERATE	1718/5163	L573S	F179B_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000355045		CCDS9681.1			1	
TMCC3	0	LGGM	GRCh37	12	94976201	94976201	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	44	15	.	.	ENST00000261226.4:c.192C>A	p.Val64=	p.V64=	ENST00000261226	NM_020698.2	64	gtC/gtA	0	1	1	UPI00001FB2DD	0		ENST00000261226		ENSG00000057704	29199		59			HGNC	p.V33V		TMCC3		SNV							ENST00000548918	protein_coding			Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF8		V		T		324/5877				G3V207_HUMAN,F8VQF2_HUMAN			YES	TMCC3,synonymous_variant,p.=,ENST00000261226,NM_020698.2;TMCC3,synonymous_variant,p.=,ENST00000551457,;TMCC3,synonymous_variant,p.=,ENST00000548918,;							LOW	192/1434		TMCC3_HUMAN			Transcript			.	ENSP00000261226		CCDS31877.1			1	
SOS2	0	LGGM	GRCh37	14	50666476	50666476	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091867	H091867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	28	16	.	.	ENST00000216373.5:c.443A>T	p.Tyr148Phe	p.Y148F	ENST00000216373	NM_006939.2	148	tAt/tTt	0	1	1	UPI000013C6E8	0	getma.org/pdb.php?prot=SOS2_HUMAN&from=97&to=169&var=Y148F	ENST00000216373		ENSG00000100485	11188		44	2.1		HGNC	p.Y148F		SOS2		SNV							ENST00000216373	protein_coding	getma.org/?cm=var&var=hg19,14,50666476,T,A&fts=all		Gene3D:1.10.20.10,Pfam_domain:PF00125,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF150,Superfamily_domains:SSF47113		Y/F		A	medium	718/5489		getma.org/?cm=msa&ty=f&p=SOS2_HUMAN&rb=97&re=169&var=Y148F	tolerated(0.12)	B4DJ05_HUMAN			YES	SOS2,missense_variant,p.Tyr148Phe,ENST00000216373,NM_006939.2;SOS2,missense_variant,p.Tyr148Phe,ENST00000543680,;SOS2,non_coding_transcript_exon_variant,,ENST00000555666,;SOS2,non_coding_transcript_exon_variant,,ENST00000556469,;SOS2,downstream_gene_variant,,ENST00000556452,;							MODERATE	443/3999	Y148F	SOS2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000216373		CCDS9697.1			1	
MUC16	0	LGGM	GRCh37	19	9005585	9005585	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	73	16	.	.	ENST00000397910.4:c.39821T>A	p.Leu13274Gln	p.L13274Q	ENST00000397910	NM_024690.2	13274	cTg/cAg	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13166&to=13278&var=L13276Q	ENST00000397910		ENSG00000181143	15582		89	3.035		HGNC	p.L13274Q		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9005585,A,T&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		L/Q		T	medium	40025/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13166&re=13278&var=L13276Q		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Leu13274Gln,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Leu114Gln,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000380951,;MUC16,missense_variant,p.Leu114Gln,ENST00000601404,;MUC16,upstream_gene_variant,,ENST00000596768,;							MODERATE	39821/43524	L13276Q				Transcript		probably_damaging(1)	.	ENSP00000381008		CCDS54212.1			1	
CFHR1	0	LGGM	GRCh37	1	196800926	196800926	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	28	17	.	.	ENST00000320493.5:c.791-1G>A		p.X264_splice	ENST00000320493	NM_002113.2			0	1	1	UPI000013CCFE	0		ENST00000320493		ENSG00000244414	4888		45			HGNC	-		CFHR1		SNV			1				ENST00000367424	protein_coding							A		-/1271				Q6LBM9_HUMAN			YES	CFHR1,splice_acceptor_variant,,ENST00000320493,NM_002113.2;CFHR1,splice_acceptor_variant,,ENST00000367424,;CFHR2,intron_variant,,ENST00000367421,;CFHR1,downstream_gene_variant,,ENST00000480960,;							HIGH	791/993		FHR1_HUMAN			Transcript			.	ENSP00000314299		CCDS1386.1			1	
ANKRD18A	0	LGGM	GRCh37	9	38595885	38595885	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	105	17	.	.	ENST00000399703.5:c.1452T>A	p.Asn484Lys	p.N484K	ENST00000399703	NM_147195.2	484	aaT/aaA	0	1	1	UPI00001AF4AF	0	NA	ENST00000399703		ENSG00000180071	23643		122	1.24		HGNC	p.N484K		ANKRD18A		SNV							ENST00000399703	protein_coding	getma.org/?cm=var&var=hg19,9,38595885,A,T&fts=all		hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF3,Pfam_domain:PF14915		N/K		T	low	1827/4041		getma.org/?cm=msa&ty=f&p=AN18B_HUMAN&rb=283&re=871&var=N493K	deleterious(0.04)				YES	ANKRD18A,missense_variant,p.Asn484Lys,ENST00000399703,NM_147195.2;ANKRD18A,upstream_gene_variant,,ENST00000602295,;							MODERATE	1452/2979	N493K	AN18A_HUMAN			Transcript		benign(0.007)	.	ENSP00000382610		CCDS55311.1			1	
HNRNPA1	0	LGGM	GRCh37	12	54676265	54676265	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	75	17	.	.	ENST00000340913.6:c.578A>G	p.Gln193Arg	p.Q193R	ENST00000340913	NM_002136.2	193	cAa/cGa	0	1	1	UPI0000161BF2	0	NA	ENST00000340913		ENSG00000135486	5031		92	1.025		HGNC	p.Q193R		HNRNPA1		SNV			1				ENST00000552494	protein_coding	getma.org/?cm=var&var=hg19,12,54676265,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF309,hmmpanther:PTHR24012,Gene3D:3.30.70.330,Superfamily_domains:SSF54928		Q/R		G	low	631/1842		getma.org/?cm=msa&ty=f&p=ROA1_HUMAN&rb=177&re=372&var=Q193R	tolerated(0.25)	F8VYN5_HUMAN			YES	HNRNPA1,missense_variant,p.Gln193Arg,ENST00000546500,;HNRNPA1,missense_variant,p.Gln193Arg,ENST00000340913,NM_002136.2,NM_031157.2;HNRNPA1,missense_variant,p.Gln193Arg,ENST00000547276,;HNRNPA1,missense_variant,p.Gln193Arg,ENST00000330752,;HNRNPA1,missense_variant,p.Gln64Arg,ENST00000550482,;HNRNPA1,missense_variant,p.Gln212Arg,ENST00000548688,;HNRNPA1,missense_variant,p.Gln144Arg,ENST00000551702,;HNRNPA1,intron_variant,,ENST00000547708,;CBX5,upstream_gene_variant,,ENST00000209875,NM_012117.2;HNRNPA1,downstream_gene_variant,,ENST00000550994,;RP11-968A15.8,intron_variant,,ENST00000553061,;RP11-968A15.2,downstream_gene_variant,,ENST00000547177,;HNRNPA1,upstream_gene_variant,,ENST00000551803,;HNRNPA1,missense_variant,p.Gln193Arg,ENST00000547566,;HNRNPA1,upstream_gene_variant,,ENST00000551665,;HNRNPA1,downstream_gene_variant,,ENST00000547870,;HNRNPA1,upstream_gene_variant,,ENST00000551679,;							MODERATE	578/1119	Q193R	ROA1_HUMAN			Transcript		unknown(0)	.	ENSP00000341826		CCDS44909.1			1	
PLCXD3	0	LGGM	GRCh37	5	41313804	41313804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	37	17	.	.	ENST00000377801.3:c.881C>T	p.Thr294Ile	p.T294I	ENST00000377801		294	aCt/aTt	0	1		UPI0000049DBB	0	NA	ENST00000328457		ENSG00000182836	31822		54	0.1		HGNC	p.T294I		PLCXD3		SNV							ENST00000328457	protein_coding	getma.org/?cm=var&var=hg19,5,41313804,G,A&fts=all		Superfamily_domains:SSF51695,Gene3D:3.20.20.190,hmmpanther:PTHR13593,hmmpanther:PTHR13593:SF33		T/I		A	neutral	983/7538		getma.org/?cm=msa&ty=f&p=PLCX3_HUMAN&rb=196&re=321&var=T294I	tolerated(0.67)	B3KXD1_HUMAN				PLCXD3,missense_variant,p.Thr294Ile,ENST00000377801,;PLCXD3,missense_variant,p.Thr294Ile,ENST00000328457,NM_001005473.2;							MODERATE	881/966	T294I	PLCX3_HUMAN			Transcript		benign(0.109)	.	ENSP00000333751		CCDS34150.1			1	
ABTB1	0	LGGM	GRCh37	3	127398863	127398863	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	28	17	.	.	ENST00000232744.8:c.1065C>T	p.Val355=	p.V355=	ENST00000232744		355	gtC/gtT	0	1	1	UPI0000035DA3	0		ENST00000232744		ENSG00000114626	18275		45			HGNC	p.V213V	rs373271133	ABTB1	6.06E-05	SNV	T:0						ENST00000393363	protein_coding			Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF83,SMART_domains:SM00225,Superfamily_domains:SSF54695		V	T:0.0001	T		1151/1965	3.04E-05						YES	ABTB1,synonymous_variant,p.=,ENST00000468137,;ABTB1,synonymous_variant,p.=,ENST00000393363,NM_172027.2;ABTB1,synonymous_variant,p.=,ENST00000232744,;ABTB1,synonymous_variant,p.=,ENST00000453791,NM_032548.3;ABTB1,non_coding_transcript_exon_variant,,ENST00000491633,;ABTB1,downstream_gene_variant,,ENST00000467179,;ABTB1,3_prime_UTR_variant,,ENST00000475042,;ABTB1,3_prime_UTR_variant,,ENST00000497162,;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,;							LOW	1065/1437		ABTB1_HUMAN			Transcript			.	ENSP00000232744	2.47E-05	CCDS3045.1			1	
FAM208B	0	LGGM	GRCh37	10	5789320	5789320	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	117	18	.	.	ENST00000328090.5:c.3936A>G	p.Ser1312=	p.S1312=	ENST00000328090	NM_017782.4	1312	tcA/tcG	0	1	1	UPI00004589BB	0		ENST00000328090		ENSG00000108021	23484		135			HGNC	p.S1312S		FAM208B		SNV							ENST00000328090	protein_coding			hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		S		G		4561/8626							YES	FAM208B,synonymous_variant,p.=,ENST00000328090,NM_017782.4;RP11-336A10.2,upstream_gene_variant,,ENST00000411512,;							LOW	3936/7293		F208B_HUMAN			Transcript			.	ENSP00000328426		CCDS41485.1			1	
SHROOM2	0	LGGM	GRCh37	X	9900230	9900230	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	10	18	.	.	ENST00000380913.3:c.2907G>A	p.Gln969=	p.Q969=	ENST00000380913	NM_001649.2	969	caG/caA	0	1	1	UPI0000125D05	0		ENST00000380913		ENSG00000146950	630		28			HGNC	p.Q969Q	rs773732618	SHROOM2		SNV							ENST00000380913	protein_coding			hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8		Q		A		2997/7447	2.18E-05			F5H3B6_HUMAN,C9IZC6_HUMAN			YES	SHROOM2,synonymous_variant,p.=,ENST00000380913,NM_001649.2;SHROOM2,5_prime_UTR_variant,,ENST00000418909,;SHROOM2,5_prime_UTR_variant,,ENST00000452575,;SHROOM2,non_coding_transcript_exon_variant,,ENST00000493668,;							LOW	2907/4851		SHRM2_HUMAN			Transcript			.	ENSP00000370299	8.36E-06	CCDS14135.1			1	
EIF2AK4	0	LGGM	GRCh37	15	40247899	40247899	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	35	18	.	.	ENST00000263791.5:c.673A>G	p.Ile225Val	p.I225V	ENST00000263791	NM_001013703.2	225	Att/Gtt	0	1	1	UPI0000160791	0	NA	ENST00000263791		ENSG00000128829	19687		53	1.39		HGNC	p.I225V		EIF2AK4		SNV			1				ENST00000382727	protein_coding	getma.org/?cm=var&var=hg19,15,40247899,A,G&fts=all		PIRSF_domain:PIRSF000660,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF70		I/V		G	low	716/5499		getma.org/?cm=msa&ty=f&p=E2AK4_HUMAN&rb=135&re=323&var=I225V	tolerated(0.29)				YES	EIF2AK4,missense_variant,p.Ile225Val,ENST00000263791,NM_001013703.2;EIF2AK4,missense_variant,p.Ile225Val,ENST00000382727,;EIF2AK4,missense_variant,p.Ile31Val,ENST00000560855,;EIF2AK4,missense_variant,p.Ile225Val,ENST00000559624,;snoU13,downstream_gene_variant,,ENST00000459610,;H3F3AP1,upstream_gene_variant,,ENST00000559984,;							MODERATE	673/4950	I225V	E2AK4_HUMAN			Transcript		benign(0)	.	ENSP00000263791		CCDS42016.1			1	
CPT2	0	LGGM	GRCh37	1	53679070	53679070	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	44	19	.	.	ENST00000371486.3:c.1780A>C	p.Ser594Arg	p.S594R	ENST00000371486	NM_000098.2	594	Agc/Cgc	0	1	1	UPI0000128303	0	getma.org/pdb.php?prot=CPT2_HUMAN&from=48&to=649&var=S594R	ENST00000371486		ENSG00000157184	2330		63	3.425		HGNC	p.S594R		CPT2		SNV			1				ENST00000371486	protein_coding	getma.org/?cm=var&var=hg19,1,53679070,A,C&fts=all		hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF51,Pfam_domain:PF00755,Superfamily_domains:SSF52777		S/R		C	medium	2295/3094		getma.org/?cm=msa&ty=f&p=CPT2_HUMAN&rb=48&re=649&var=S594R	deleterious(0)				YES	CPT2,missense_variant,p.Ser594Arg,ENST00000371486,NM_000098.2;C1orf123,downstream_gene_variant,,ENST00000294360,NM_017887.1;RP5-1024G6.2,non_coding_transcript_exon_variant,,ENST00000452466,;C1orf123,downstream_gene_variant,,ENST00000470385,;C1orf123,downstream_gene_variant,,ENST00000483739,;C1orf123,downstream_gene_variant,,ENST00000478839,;C1orf123,downstream_gene_variant,,ENST00000489755,;							MODERATE	1780/1977	S594R	CPT2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000360541		CCDS575.1			1	
ATP6V0A4	0	LGGM	GRCh37	7	138429957	138429957	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	62	20	.	.	ENST00000310018.2:c.1389T>A	p.Gly463=	p.G463=	ENST00000310018	NM_020632.2	463	ggT/ggA	0	1	1	UPI000013CDFD	0		ENST00000310018		ENSG00000105929	866		82			HGNC	p.G463G		ATP6V0A4		SNV			1				ENST00000310018	protein_coding			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26,Transmembrane_helices:TMhelix		G		T		1672/3135							YES	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,intron_variant,,ENST00000471085,;ATP6V0A4,non_coding_transcript_exon_variant,,ENST00000478480,;							LOW	1389/2523		VPP4_HUMAN			Transcript			.	ENSP00000308122		CCDS5849.1			1	
SNTN	0	LGGM	GRCh37	3	63645487	63645487	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	46	20	.	.	ENST00000343837.3:c.232G>T	p.Glu78Ter	p.E78*	ENST00000343837	NM_001080537.1	78	Gaa/Taa	0	1	1	UPI000015D697	0	NA	ENST00000343837		ENSG00000188817	33706		66	0		HGNC	p.E78X		SNTN		SNV							ENST00000469440	protein_coding	getma.org/?cm=var&var=hg19,3,63645487,G,T&fts=all		hmmpanther:PTHR11639:SF24,hmmpanther:PTHR11639,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		E/*		T	NA	252/1090		NA					YES	SNTN,stop_gained,p.Glu74Ter,ENST00000496807,;SNTN,stop_gained,p.Glu78Ter,ENST00000343837,NM_001080537.1;SNTN,stop_gained,p.Glu78Ter,ENST00000469440,;							HIGH	232/444	E78*	SNTAN_HUMAN			Transcript			.	ENSP00000341442		CCDS33779.1			1	
ACAN	0	LGGM	GRCh37	15	89398600	89398600	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	42	21	.	.	ENST00000439576.2:c.2784G>A	p.Trp928Ter	p.W928*	ENST00000439576	NM_013227.3	928	tgG/tgA	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		63	0		HGNC	p.W928X		ACAN		SNV			1				ENST00000559004	protein_coding	getma.org/?cm=var&var=hg19,15,89398600,G,A&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		W/*		A	NA	3158/8840		NA		Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,stop_gained,p.Trp928Ter,ENST00000439576,NM_013227.3;ACAN,stop_gained,p.Trp928Ter,ENST00000559004,;ACAN,stop_gained,p.Trp928Ter,ENST00000561243,;ACAN,stop_gained,p.Trp928Ter,ENST00000352105,NM_001135.3;ACAN,downstream_gene_variant,,ENST00000558207,;ACAN,upstream_gene_variant,,ENST00000560601,;							HIGH	2784/7593	W927*				Transcript			.	ENSP00000387356		CCDS53970.1			1	
LCE4A	0	LGGM	GRCh37	1	152681608	152681608	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	132	22	.	.	ENST00000368777.1:c.57C>A	p.Pro19=	p.P19=	ENST00000368777		19	ccC/ccA	0	1		UPI0000192763	0		ENST00000335535		ENSG00000187170	16613		154			HGNC	p.P19P		LCE4A		SNV							ENST00000368777	protein_coding			Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF25,Low_complexity_(Seg):seg		P		A		86/388								LCE4A,synonymous_variant,p.=,ENST00000368777,;LCE4A,synonymous_variant,p.=,ENST00000335535,NM_178356.2;							LOW	57/300		LCE4A_HUMAN			Transcript			.	ENSP00000335223		CCDS1022.1			1	
ZNF83	0	LGGM	GRCh37	19	53116654	53116654	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	37	22	.	.	ENST00000597597.1:c.1164T>A	p.Leu388=	p.L388=	ENST00000597597		388	ctT/ctA	0	1		UPI000013E6CF	0		ENST00000301096		ENSG00000167766	13158		59			HGNC	p.L388L		ZNF83		SNV							ENST00000597597	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108,SMART_domains:SM00355,Superfamily_domains:SSF57667		L		T		1565/2599				H9XFB5_HUMAN				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,;							LOW	1164/1551		ZNF83_HUMAN			Transcript			.	ENSP00000301096		CCDS12854.1			1	
C10orf71	0	LGGM	GRCh37	10	50531176	50531176	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	55	22	.	.	ENST00000374144.3:c.586A>C	p.Arg196=	p.R196=	ENST00000374144		196	Agg/Cgg	0	1	1	UPI0000161572	0		ENST00000374144		ENSG00000177354	26973		77			HGNC	p.R196R		C10orf71		SNV							ENST00000374144	protein_coding					R		C		874/5230							YES	C10orf71,synonymous_variant,p.=,ENST00000374144,;C10orf71,synonymous_variant,p.=,ENST00000323868,NM_001135196.1;							LOW	586/4308		CJ071_HUMAN			Transcript			.	ENSP00000363259		CCDS44387.1			1	
ANKDD1B	0	LGGM	GRCh37	5	74951908	74951908	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	57	26	.	.	ENST00000601380.2:c.952A>G	p.Asn318Asp	p.N318D	ENST00000601380	NM_001276713.1	318	Aac/Gac	0	1	1	UPI0002A4709F	0	getma.org/pdb.php?prot=AKD1B_HUMAN&from=202&to=270&var=N257D	ENST00000601380		ENSG00000189045	32525		83	0.085		HGNC	p.N318D		ANKDD1B		SNV							ENST00000601380	protein_coding	getma.org/?cm=var&var=hg19,5,74951908,A,G&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24125:SF1,hmmpanther:PTHR24125,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		N/D		G	neutral	1128/2569		getma.org/?cm=msa&ty=f&p=AKD1B_HUMAN&rb=202&re=270&var=N257D	tolerated(0.11)				YES	ANKDD1B,missense_variant,p.Asn318Asp,ENST00000601380,NM_001276713.1;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000506596,;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000594319,;ANKDD1B,non_coding_transcript_exon_variant,,ENST00000504514,;							MODERATE	952/1587	N257D	AKD1B_HUMAN			Transcript		benign(0.02)	.	ENSP00000471417		CCDS64180.1			1	
ZNF679	0	LGGM	GRCh37	7	63726305	63726305	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	42	26	.	.	ENST00000421025.1:c.294G>A	p.Pro98=	p.P98=	ENST00000421025	NM_153363.2	98	ccG/ccA	0	1		UPI000045756A	0		ENST00000255746		ENSG00000197123	28650		68			HGNC	p.P98P	rs762176872	ZNF679		SNV							ENST00000255746	protein_coding			hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91		P		A		294/1289	0.000399							ZNF679,synonymous_variant,p.=,ENST00000421025,NM_153363.2,NM_001159524.1;ZNF679,synonymous_variant,p.=,ENST00000255746,NM_001159524.1;							LOW	294/1236		ZN679_HUMAN	0.000153		Transcript			.	ENSP00000255746	0.00024	CCDS47592.1			1	
SEMA3E	0	LGGM	GRCh37	7	83035373	83035373	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	97	26	.	.	ENST00000307792.3:c.816T>C	p.Asn272=	p.N272=	ENST00000307792	NM_012431.2	272	aaT/aaC	0	1	1	UPI0000135A68	0		ENST00000307792		ENSG00000170381	10727		123			HGNC	p.N272N		SEMA3E		SNV			1				ENST00000307792	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF22,SMART_domains:SM00630,Superfamily_domains:SSF101912		N		G		1284/6476				F8WCZ5_HUMAN,C9JVH5_HUMAN			YES	SEMA3E,splice_region_variant,p.=,ENST00000307792,NM_012431.2;SEMA3E,splice_region_variant,p.=,ENST00000427262,NM_001178129.1;SEMA3E,downstream_gene_variant,,ENST00000442159,;							LOW	816/2328		SEM3E_HUMAN			Transcript			.	ENSP00000303212		CCDS34674.1			1	
DMBT1	0	LGGM	GRCh37	10	124345885	124345885	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	103	27	.	.	ENST00000368909.3:c.1769G>A	p.Gly590Asp	p.G590D	ENST00000368909	NM_007329.2	590	gGt/gAt	0	1		UPI000047021C	0	getma.org/pdb.php?prot=DMBT1_HUMAN&from=497&to=594&var=G590D	ENST00000338354		ENSG00000187908	2926		130	4.595		HGNC	p.G590D	COSM915616,COSM915614,COSM915615	DMBT1		SNV			1			1,1,1	ENST00000341278	protein_coding	getma.org/?cm=var&var=hg19,10,124345885,G,A&fts=all		Prints_domain:PR00258,Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF250,PROSITE_profiles:PS50287		G/D		A	high	1875/7686		getma.org/?cm=msa&ty=f&p=DMBT1_HUMAN&rb=497&re=594&var=G590D	deleterious(0)	B6V682_HUMAN				DMBT1,missense_variant,p.Gly590Asp,ENST00000338354,;DMBT1,missense_variant,p.Gly590Asp,ENST00000368909,NM_007329.2;DMBT1,missense_variant,p.Gly580Asp,ENST00000368955,NM_017579.2;DMBT1,missense_variant,p.Gly580Asp,ENST00000344338,;DMBT1,intron_variant,,ENST00000330163,;DMBT1,intron_variant,,ENST00000368956,NM_004406.2;DMBT1,intron_variant,,ENST00000359586,;					1,1,1		MODERATE	1769/7242	G590D	DMBT1_HUMAN			Transcript		unknown(0)	.	ENSP00000342210					1	
PTCHD4	0	LGGM	GRCh37	6	47847266	47847266	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091867	H091867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	60	28	.	.	ENST00000339488.4:c.1314G>A	p.Thr438=	p.T438=	ENST00000339488	NM_001013732.3	438	acG/acA	0	1	1	UPI000179A8D3	0		ENST00000339488		ENSG00000244694	21345		88			HGNC	p.T438T	COSM1444978	PTCHD4		SNV						1	ENST00000339488	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460		T		T		1348/2850	1.50E-05			B2RPC0_HUMAN			YES	PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;					1		LOW	1314/2541		PTHD4_HUMAN			Transcript			.	ENSP00000341914	8.24E-06	CCDS34473.2			1	
PCDHB12	0	LGGM	GRCh37	5	140589885	140589885	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	210	30	.	.	ENST00000239450.2:c.1406A>T	p.His469Leu	p.H469L	ENST00000239450	NM_018932.3	469	cAc/cTc	0	1	1	UPI000000DAFD	0	getma.org/pdb.php?prot=PCDBC_HUMAN&from=456&to=552&var=H469L	ENST00000239450		ENSG00000120328	8683		240	-0.71		HGNC	p.H469L		PCDHB12		SNV							ENST00000239450	protein_coding	getma.org/?cm=var&var=hg19,5,140589885,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,Superfamily_domains:SSF49313		H/L		T	neutral	1595/3406		getma.org/?cm=msa&ty=f&p=PCDBC_HUMAN&rb=456&re=552&var=H469L	deleterious_low_confidence(0.03)	B4DDU1_HUMAN			YES	PCDHB12,missense_variant,p.His469Leu,ENST00000239450,NM_018932.3;PCDHB12,missense_variant,p.His132Leu,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;							MODERATE	1406/2388	H469L	PCDBC_HUMAN			Transcript		benign(0.072)	.	ENSP00000239450		CCDS4254.1			1	
GLCCI1	0	LGGM	GRCh37	7	8126074	8126074	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	101	31	.	.	ENST00000223145.5:c.1550A>T	p.Glu517Val	p.E517V	ENST00000223145	NM_138426.3	517	gAg/gTg	0	1	1	UPI00001907F7	0	NA	ENST00000223145		ENSG00000106415	18713		132	0.895		HGNC	p.E517V		GLCCI1		SNV			1				ENST00000223145	protein_coding	getma.org/?cm=var&var=hg19,7,8126074,A,T&fts=all		hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3		E/V		T	low	2107/4743		getma.org/?cm=msa&ty=f&p=GLCI1_HUMAN&rb=401&re=547&var=E517V	deleterious_low_confidence(0)				YES	GLCCI1,missense_variant,p.Glu517Val,ENST00000223145,NM_138426.3;GLCCI1,non_coding_transcript_exon_variant,,ENST00000482540,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000489405,;GLCCI1,intron_variant,,ENST00000438949,;GLCCI1,downstream_gene_variant,,ENST00000491947,;							MODERATE	1550/1644	E517V	GLCI1_HUMAN			Transcript		benign(0.124)	.	ENSP00000223145		CCDS34601.1			1	
PRPF4	0	LGGM	GRCh37	9	116049051	116049051	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091867	H091867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	173	34	.	.	ENST00000374198.4:c.878A>G	p.Asp293Gly	p.D293G	ENST00000374198	NM_001244926.1	293	gAt/gGt	0	1	1	UPI0000132340	0	NA	ENST00000374198		ENSG00000136875	17349		207	0		HGNC	p.D293G		PRPF4		SNV			1				ENST00000374198	protein_coding	getma.org/?cm=var&var=hg19,9,116049051,A,G&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19846,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/G		G	neutral	980/2787		getma.org/?cm=msa&ty=f&p=PRP4_HUMAN&rb=263&re=309&var=D293G	tolerated(0.38)				YES	PRPF4,missense_variant,p.Asp292Gly,ENST00000374199,;PRPF4,missense_variant,p.Asp293Gly,ENST00000374198,NM_001244926.1,NM_004697.4;PRPF4,downstream_gene_variant,,ENST00000488937,;							MODERATE	878/1569	D293G	PRP4_HUMAN			Transcript		benign(0.009)	.	ENSP00000363313		CCDS6791.1			1	
NSD1	0	LGGM	GRCh37	5	176665417	176665417	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091867	H091867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091867N.bam, H091867T.bam	Illumina HiSeq	64	35	.	.	ENST00000439151.2:c.4101G>T	p.Glu1367Asp	p.E1367D	ENST00000439151	NM_022455.4	1367	gaG/gaT	0	1	1	UPI000006F9C6	0	NA	ENST00000439151		ENSG00000165671	14234		99	0.205		HGNC	p.E1098D		NSD1		SNV			1				ENST00000354179	protein_coding	getma.org/?cm=var&var=hg19,5,176665417,G,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312		E/D		T	neutral	4146/12892		getma.org/?cm=msa&ty=f&p=NSD1_HUMAN&rb=1259&re=1458&var=E1367D	tolerated_low_confidence(0.25)	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,missense_variant,p.Glu1367Asp,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Glu1264Asp,ENST00000361032,;NSD1,missense_variant,p.Glu1098Asp,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Glu1098Asp,ENST00000347982,;NSD1,intron_variant,,ENST00000375350,;							MODERATE	4101/8091	E1367D	NSD1_HUMAN			Transcript		benign(0.062)	.	ENSP00000395929		CCDS4412.1			1	
CDRT15L2	0	LGGM	GRCh37	17	20483760	20483760	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	7	2	.	.	ENST00000399044.1:c.564C>G	p.Asp188Glu	p.D188E	ENST00000399044	NM_001190790.1	188	gaC/gaG	0	1	1	UPI00001D7A81	0	NA	ENST00000399044		ENSG00000214819	34075		9	0.345		HGNC	p.D188E	rs771593919	CDRT15L2	0.000577	SNV				0.0012			ENST00000399044	protein_coding	getma.org/?cm=var&var=hg19,17,20483760,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16471,hmmpanther:PTHR16471:SF0		D/E		G	neutral	584/1048	0.000838	getma.org/?cm=msa&ty=f&p=CD15L_HUMAN&rb=1&re=280&var=D188E	tolerated_low_confidence(0.5)				YES	CDRT15L2,missense_variant,p.Asp188Glu,ENST00000399044,NM_001190790.1;RP11-434D2.12,upstream_gene_variant,,ENST00000580931,;ZSWIM5P2,downstream_gene_variant,,ENST00000420212,;							MODERATE	564/846	D188E	CD15L_HUMAN			Transcript		benign(0.002)	common_variant	ENSP00000382000	0.000332	CCDS54096.1			1	
SHANK1	0	LGGM	GRCh37	19	51175336	51175336	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	7	2	.	.	ENST00000293441.1:c.2613T>C	p.Ser871=	p.S871=	ENST00000293441	NM_016148.2	871	agT/agC	0	1	1	UPI000013E109	0		ENST00000293441		ENSG00000161681	15474		9			HGNC	p.S862S		SHANK1		SNV			1				ENST00000359082	protein_coding			hmmpanther:PTHR24135:SF3,hmmpanther:PTHR24135		S		G		2632/6643							YES	SHANK1,synonymous_variant,p.=,ENST00000293441,NM_016148.2;SHANK1,synonymous_variant,p.=,ENST00000391814,;SHANK1,synonymous_variant,p.=,ENST00000359082,;SHANK1,synonymous_variant,p.=,ENST00000391813,;SYT3,upstream_gene_variant,,ENST00000544769,;							LOW	2613/6486		SHAN1_HUMAN			Transcript			.	ENSP00000293441		CCDS12799.1			1	
AFMID	0	LGGM	GRCh37	17	76201208	76201208	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	5	2	.	.	ENST00000327898.5:c.502C>A	p.His168Asn	p.H168N	ENST00000327898		168	Cac/Aac	0	1		UPI00001D7967	0	getma.org/pdb.php?prot=AFMID_HUMAN&from=91&to=283&var=H168N	ENST00000409257		ENSG00000183077	20910		7	2.23		HGNC	p.H168N		AFMID		SNV							ENST00000409257	protein_coding	getma.org/?cm=var&var=hg19,17,76201208,C,A&fts=all		Low_complexity_(Seg):seg,HAMAP:MF_03014,hmmpanther:PTHR23024:SF118,hmmpanther:PTHR23024,Gene3D:3.40.50.1820,Pfam_domain:PF07859,Superfamily_domains:SSF53474		H/N		A	medium	556/1730		getma.org/?cm=msa&ty=f&p=AFMID_HUMAN&rb=91&re=283&var=H168N	deleterious(0.01)					AFMID,missense_variant,p.His168Asn,ENST00000409257,NM_001010982.4,NM_001145526.2;AFMID,missense_variant,p.His168Asn,ENST00000327898,;AFMID,intron_variant,,ENST00000588800,;AFMID,intron_variant,,ENST00000591952,;AFMID,downstream_gene_variant,,ENST00000591256,;AFMID,downstream_gene_variant,,ENST00000586542,;AFMID,intron_variant,,ENST00000589664,;AFMID,intron_variant,,ENST00000587750,;AFMID,intron_variant,,ENST00000585419,;AFMID,downstream_gene_variant,,ENST00000591538,;AFMID,intron_variant,,ENST00000588199,;AFMID,downstream_gene_variant,,ENST00000592988,;AFMID,downstream_gene_variant,,ENST00000589107,;							MODERATE	502/912	H168N	KFA_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000386890		CCDS32750.2			1	
POTEJ	0	LGGM	GRCh37	2	131415200	131415200	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	8	2	.	.	ENST00000409602.1:c.2867T>A	p.Leu956Gln	p.L956Q	ENST00000409602	NM_001277083.1	956	cTg/cAg	0	1	1	UPI0000DD7A4B	0	getma.org/pdb.php?prot=POTEJ_HUMAN&from=665&to=1038&var=L956Q	ENST00000409602		ENSG00000222038	37094		10	5.355		HGNC	p.L956Q		POTEJ		SNV							ENST00000409602	protein_coding	getma.org/?cm=var&var=hg19,2,131415200,T,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,SMART_domains:SM00268,Superfamily_domains:SSF53067		L/Q		A	high	2919/3383		getma.org/?cm=msa&ty=f&p=POTEJ_HUMAN&rb=665&re=1038&var=L956Q	deleterious_low_confidence(0)				YES	POTEJ,missense_variant,p.Leu956Gln,ENST00000409602,NM_001277083.1;AC140481.1,downstream_gene_variant,,ENST00000535037,;							MODERATE	2867/3117	L956Q	POTEJ_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000387176		CCDS59432.1			1	
PRKD2	0	LGGM	GRCh37	19	47177872	47177872	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	5	2	.	.	ENST00000433867.1:c.2545T>C	p.Ser849Pro	p.S849P	ENST00000433867	NM_001079881.1	849	Tct/Cct	0	1		UPI000013E03A	0	NA	ENST00000291281		ENSG00000105287	17293		7	-0.69		HGNC	p.S849P		PRKD2		SNV							ENST00000433867	protein_coding	getma.org/?cm=var&var=hg19,19,47177872,A,G&fts=all		hmmpanther:PTHR22968,PIRSF_domain:PIRSF000552		S/P		G	neutral	2771/3070		getma.org/?cm=msa&ty=f&p=KPCD2_HUMAN&rb=808&re=878&var=S849P	tolerated(0.96)	M0R346_HUMAN,M0R2R2_HUMAN,M0R012_HUMAN				PRKD2,missense_variant,p.Ser849Pro,ENST00000433867,NM_001079881.1,NM_016457.4,NM_001079880.1;PRKD2,missense_variant,p.Ser849Pro,ENST00000291281,;PRKD2,missense_variant,p.Ser859Pro,ENST00000595515,;PRKD2,missense_variant,p.Ser692Pro,ENST00000600194,NM_001079882.1;PRKD2,missense_variant,p.Ser692Pro,ENST00000601806,;DACT3-AS1,intron_variant,,ENST00000525008,;DACT3-AS1,downstream_gene_variant,,ENST00000500689,;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,;							MODERATE	2545/2637	S849P	KPCD2_HUMAN			Transcript		benign(0)	.	ENSP00000291281		CCDS12689.1			1	
RAB3GAP1	0	LGGM	GRCh37	2	135892840	135892840	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	40	3	.	.	ENST00000442034.1:c.1505C>G	p.Ala502Gly	p.A502G	ENST00000442034	NM_001172435.1	502	gCa/gGa	0	1		UPI0000072FAA	0	NA	ENST00000264158		ENSG00000115839	17063		43	1.43		HGNC	p.A458G		RAB3GAP1		SNV			1				ENST00000539493	protein_coding	getma.org/?cm=var&var=hg19,2,135892840,C,G&fts=all		hmmpanther:PTHR21422		A/G		G	low	1548/4914		getma.org/?cm=msa&ty=f&p=RB3GP_HUMAN&rb=401&re=600&var=A502G	tolerated(0.52)	D3DP75_HUMAN,B9A6J2_HUMAN				RAB3GAP1,missense_variant,p.Ala502Gly,ENST00000264158,NM_012233.2;RAB3GAP1,missense_variant,p.Ala502Gly,ENST00000442034,NM_001172435.1;RAB3GAP1,missense_variant,p.Ala458Gly,ENST00000539493,;SNORA40,upstream_gene_variant,,ENST00000385573,;RAB3GAP1,non_coding_transcript_exon_variant,,ENST00000487003,;ZRANB3,downstream_gene_variant,,ENST00000412849,;RAB3GAP1,downstream_gene_variant,,ENST00000489858,;							MODERATE	1505/2946	A502G	RB3GP_HUMAN			Transcript		benign(0.001)	.	ENSP00000264158		CCDS33294.1			1	
TRIM16L	0	LGGM	GRCh37	17	18638214	18638214	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	28	3	.	.	ENST00000449552.2:c.488C>A	p.Pro163Gln	p.P163Q	ENST00000449552		163	cCg/cAg	0	1		UPI0000199A7B	0	NA	ENST00000395671		ENSG00000108448	32670		31	3.055		HGNC	p.P163Q		TRIM16L		SNV							ENST00000395671	protein_coding	getma.org/?cm=var&var=hg19,17,18638214,C,A&fts=all		Prints_domain:PR01407,Superfamily_domains:SSF49899,SMART_domains:SM00589,Pfam_domain:PF13765,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF86,PROSITE_profiles:PS50188		P/Q		A	medium	831/2048		getma.org/?cm=msa&ty=f&p=TR16L_HUMAN&rb=159&re=208&var=P163Q	deleterious(0.01)	I3L3K9_HUMAN,I3L2F3_HUMAN,I3L1X9_HUMAN				TRIM16L,missense_variant,p.Pro163Gln,ENST00000449552,;TRIM16L,missense_variant,p.Pro163Gln,ENST00000395671,NM_001037330.1;TRIM16L,missense_variant,p.Pro163Gln,ENST00000572555,;TRIM16L,missense_variant,p.Pro217Gln,ENST00000395902,;TRIM16L,missense_variant,p.Pro163Gln,ENST00000571708,;TRIM16L,missense_variant,p.Pro163Gln,ENST00000395672,;TRIM16L,missense_variant,p.Pro163Gln,ENST00000571542,;TRIM16L,missense_variant,p.Pro132Gln,ENST00000574042,;TRIM16L,synonymous_variant,p.=,ENST00000414850,;TRIM16L,synonymous_variant,p.=,ENST00000424146,;TRIM16L,downstream_gene_variant,,ENST00000573443,;TRIM16L,downstream_gene_variant,,ENST00000571733,;TRIM16L,downstream_gene_variant,,ENST00000577969,;							MODERATE	488/1047	P163Q	TR16L_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000379030		CCDS32588.1			1	
EHD3	0	LGGM	GRCh37	2	31457645	31457645	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	47	3	.	.	ENST00000322054.5:c.158C>T	p.Ala53Val	p.A53V	ENST00000322054	NM_014600.2	53	gCc/gTc	0	1	1	UPI0000140D07	0	getma.org/pdb.php?prot=EHD3_HUMAN&from=1&to=60&var=A53V	ENST00000322054		ENSG00000013016	3244		50	2.645		HGNC	p.A53V		EHD3		SNV							ENST00000541626	protein_coding	getma.org/?cm=var&var=hg19,2,31457645,C,T&fts=all		hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Superfamily_domains:SSF52540		A/V		T	medium	443/4636		getma.org/?cm=msa&ty=f&p=EHD3_HUMAN&rb=1&re=60&var=A53V	tolerated(0.08)				YES	EHD3,missense_variant,p.Ala53Val,ENST00000322054,NM_014600.2;EHD3,missense_variant,p.Ala53Val,ENST00000541626,;CAPN14,upstream_gene_variant,,ENST00000398824,;							MODERATE	158/1608	A53V	EHD3_HUMAN			Transcript		benign(0.411)	.	ENSP00000327116		CCDS1774.1			1	
GTF2E2	0	LGGM	GRCh37	8	30464658	30464658	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	20	3	.	.	ENST00000355904.4:c.559G>A	p.Asp187Asn	p.D187N	ENST00000355904	NM_002095.4	187	Gac/Aac	0	1	1	UPI00001367F4	0	NA	ENST00000355904		ENSG00000197265	4651		23	1.545		HGNC	p.D187N		GTF2E2		SNV							ENST00000518599	protein_coding	getma.org/?cm=var&var=hg19,8,30464658,C,T&fts=all		PIRSF_domain:PIRSF016398,hmmpanther:PTHR12716,hmmpanther:PTHR12716:SF8		D/N		T	low	842/1762		getma.org/?cm=msa&ty=f&p=T2EB_HUMAN&rb=146&re=291&var=D187N	tolerated(0.35)	E5RIW4_HUMAN,E5RH41_HUMAN			YES	GTF2E2,missense_variant,p.Asp187Asn,ENST00000355904,NM_002095.4;GTF2E2,missense_variant,p.Asp187Asn,ENST00000518599,;GTF2E2,non_coding_transcript_exon_variant,,ENST00000522833,;GTF2E2,3_prime_UTR_variant,,ENST00000523499,;							MODERATE	559/876	D187N	T2EB_HUMAN			Transcript		benign(0.077)	.	ENSP00000348168		CCDS6078.1			1	
PLA2G16	0	LGGM	GRCh37	11	63342449	63342449	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	44	3	.	.	ENST00000323646.5:c.457A>G	p.Met153Val	p.M153V	ENST00000323646	NM_007069.3	153	Atg/Gtg	0	1	1	UPI000012CBE4	0	NA	ENST00000323646		ENSG00000176485	17825		47	1.95		HGNC	p.M153V		PLA2G16		SNV							ENST00000415826	protein_coding	getma.org/?cm=var&var=hg19,11,63342449,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13943:SF33,hmmpanther:PTHR13943		M/V		C	medium	812/2594		getma.org/?cm=msa&ty=f&p=PAG16_HUMAN&rb=127&re=162&var=M153V	tolerated(0.32)	F5H7E5_HUMAN			YES	PLA2G16,missense_variant,p.Met153Val,ENST00000323646,NM_007069.3;PLA2G16,missense_variant,p.Met153Val,ENST00000415826,NM_001128203.1;PLA2G16,non_coding_transcript_exon_variant,,ENST00000394613,;							MODERATE	457/489	M153V	HRSL3_HUMAN			Transcript		benign(0)	.	ENSP00000320337		CCDS8047.1			1	
KPNA3	0	LGGM	GRCh37	13	50280503	50280503	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	8	3	.	.	ENST00000261667.3:c.1038A>T	p.Ala346=	p.A346=	ENST00000261667	NM_002267.3	346	gcA/gcT	0	1	1	UPI000012D5F9	0		ENST00000261667		ENSG00000102753	6396		11			HGNC	p.A346A		KPNA3		SNV							ENST00000261667	protein_coding			hmmpanther:PTHR23316:SF6,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371		A		A		1453/4470							YES	KPNA3,synonymous_variant,p.=,ENST00000261667,NM_002267.3;KPNA3,upstream_gene_variant,,ENST00000436760,;							LOW	1038/1566		IMA4_HUMAN			Transcript			.	ENSP00000261667		CCDS9421.1			1	
SLC12A9	0	LGGM	GRCh37	7	100454735	100454735	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	44	3	.	.	ENST00000354161.3:c.694C>A	p.Leu232Met	p.L232M	ENST00000354161	NM_020246.3	232	Ctg/Atg	0	1	1	UPI000006CD28	0	NA	ENST00000354161		ENSG00000146828	17435		47	1.2		HGNC	p.L232M		SLC12A9		SNV							ENST00000428758	protein_coding	getma.org/?cm=var&var=hg19,7,100454735,C,A&fts=all		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF52		L/M		A	low	819/3273		getma.org/?cm=msa&ty=f&p=S12A9_HUMAN&rb=42&re=536&var=L232M	tolerated(0.23)	D6W5X5_HUMAN,D6W5X3_HUMAN,C9JMQ7_HUMAN,C9J0I5_HUMAN			YES	SLC12A9,missense_variant,p.Leu232Met,ENST00000354161,NM_020246.3;SLC12A9,missense_variant,p.Leu232Met,ENST00000540482,NM_001267812.1;SLC12A9,missense_variant,p.Leu232Met,ENST00000428758,;SLC12A9,missense_variant,p.Leu143Met,ENST00000415287,NM_001267814.1;SLC12A9,missense_variant,p.Leu143Met,ENST00000275729,;SLC12A9,5_prime_UTR_variant,,ENST00000418037,;SLC12A9,intron_variant,,ENST00000416675,;SLC12A9,downstream_gene_variant,,ENST00000434158,;RP11-126L15.4,upstream_gene_variant,,ENST00000412754,;SLC12A9,intron_variant,,ENST00000461016,;SLC12A9,upstream_gene_variant,,ENST00000475623,;SLC12A9,upstream_gene_variant,,ENST00000482184,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,;SLC12A9,non_coding_transcript_exon_variant,,ENST00000497958,;SLC12A9,intron_variant,,ENST00000448342,;SLC12A9,upstream_gene_variant,,ENST00000487651,;SLC12A9,downstream_gene_variant,,ENST00000462106,;							MODERATE	694/2745	L232M	S12A9_HUMAN			Transcript		benign(0.315)	.	ENSP00000275730		CCDS5707.1			1	
ZNF324B	0	LGGM	GRCh37	19	58967134	58967134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	22	3	.	.	ENST00000336614.4:c.823C>A	p.His275Asn	p.H275N	ENST00000336614	NM_207395.2	275	Cac/Aac	0	1	1	UPI000022AA2D	0	getma.org/pdb.php?prot=Z324B_HUMAN&from=271&to=296&var=H275N	ENST00000336614		ENSG00000249471	33107		25	3.93		HGNC	p.H265N		ZNF324B		SNV							ENST00000391696	protein_coding	getma.org/?cm=var&var=hg19,19,58967134,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/N		A	high	930/2996		getma.org/?cm=msa&ty=f&p=Z324B_HUMAN&rb=251&re=316&var=H275N	deleterious(0)	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN			YES	ZNF324B,missense_variant,p.His265Asn,ENST00000391696,;ZNF324B,missense_variant,p.His275Asn,ENST00000336614,NM_207395.2;ZNF324B,missense_variant,p.His275Asn,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000598244,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000599194,;							MODERATE	823/1635	H275N	Z324B_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000337473		CCDS33138.1			1	
ARHGEF5	0	LGGM	GRCh37	7	144061276	144061276	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	47	3	.	.	ENST00000056217.5:c.1514C>T	p.Ala505Val	p.A505V	ENST00000056217	NM_005435.3	505	gCc/gTc	0	1	1	UPI00004028DC	0	NA	ENST00000056217		ENSG00000050327	13209		50	1.59		HGNC	p.A505V		ARHGEF5		SNV							ENST00000056217	protein_coding	getma.org/?cm=var&var=hg19,7,144061276,C,T&fts=all		hmmpanther:PTHR12845:SF2,hmmpanther:PTHR12845		A/V		T	low	1688/5544		getma.org/?cm=msa&ty=f&p=ARHG5_HUMAN&rb=1&re=596&var=A505V	deleterious(0.04)	H9XFB6_HUMAN			YES	ARHGEF5,missense_variant,p.Ala505Val,ENST00000056217,NM_005435.3;ARHGEF5,intron_variant,,ENST00000498580,;ARHGEF5,upstream_gene_variant,,ENST00000474817,;ARHGEF5,upstream_gene_variant,,ENST00000471847,;							MODERATE	1514/4794	A505V	ARHG5_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000056217		CCDS34771.1			1	
ZNF479	0	LGGM	GRCh37	7	57187991	57187991	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	31	3	.	.	ENST00000331162.4:c.1131A>G	p.Gly377=	p.G377=	ENST00000331162	NM_033273.1	377	ggA/ggG	0	1	1	UPI000006E615	0		ENST00000331162		ENSG00000185177	23258		34			HGNC	p.G377G		ZNF479		SNV							ENST00000331162	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF103,Superfamily_domains:SSF57667		G		C		1402/2072				I0EZ75_HUMAN			YES	ZNF479,synonymous_variant,p.=,ENST00000331162,NM_033273.1;							LOW	1131/1575		ZN479_HUMAN			Transcript			.	ENSP00000333776		CCDS43590.1			1	
TMEM132C	0	LGGM	GRCh37	12	129178385	129178385	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	69	4	.	.	ENST00000435159.2:c.1461C>A	p.Arg487=	p.R487=	ENST00000435159	NM_001136103.2	487	cgC/cgA	0	1	1	UPI0001C0B37C	0		ENST00000435159		ENSG00000181234	25436		73			HGNC	p.R487R		TMEM132C		SNV							ENST00000435159	protein_coding			hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF4		R		A		1461/4947				F5H439_HUMAN,E9PC33_HUMAN			YES	TMEM132C,synonymous_variant,p.=,ENST00000435159,NM_001136103.2;TMEM132C,synonymous_variant,p.=,ENST00000315208,;TMEM132C,upstream_gene_variant,,ENST00000537538,;							LOW	1461/3327		T132C_HUMAN			Transcript			.	ENSP00000410852					1	
TRNT1	0	LGGM	GRCh37	3	3189256	3189256	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	75	4	.	.	ENST00000251607.6:c.925T>C	p.Leu309=	p.L309=	ENST00000251607	NM_182916.2	309	Ttg/Ctg	0	1	1	UPI000013CD08	0		ENST00000251607		ENSG00000072756	17341		79			HGNC	p.L309L		TRNT1		SNV			1				ENST00000251607	protein_coding			Superfamily_domains:SSF81891,hmmpanther:PTHR13734,Gene3D:1.10.3090.10,hmmpanther:PTHR13734:SF5		L		C		1027/2276				C9JRS7_HUMAN			YES	TRNT1,synonymous_variant,p.=,ENST00000251607,NM_182916.2;TRNT1,synonymous_variant,p.=,ENST00000280591,;CRBN,downstream_gene_variant,,ENST00000231948,NM_016302.3;CRBN,downstream_gene_variant,,ENST00000432408,NM_001173482.1;CRBN,downstream_gene_variant,,ENST00000424814,;TRNT1,synonymous_variant,p.=,ENST00000434583,;CRBN,downstream_gene_variant,,ENST00000491834,;CRBN,downstream_gene_variant,,ENST00000488263,;CRBN,downstream_gene_variant,,ENST00000459840,;CRBN,downstream_gene_variant,,ENST00000498442,;							LOW	925/1305		TRNT1_HUMAN			Transcript			.	ENSP00000251607		CCDS2561.2			1	
FIBP	0	LGGM	GRCh37	11	65652609	65652609	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	30	4	.	.	ENST00000338369.2:c.716A>T	p.Gln239Leu	p.Q239L	ENST00000338369	NM_198897.1	239	cAg/cTg	0	1	1	UPI000012A79E	0	NA	ENST00000338369		ENSG00000172500	3705		34	1.28		HGNC	p.Q239L		FIBP		SNV							ENST00000338369	protein_coding	getma.org/?cm=var&var=hg19,11,65652609,T,A&fts=all		Pfam_domain:PF05427,hmmpanther:PTHR13223,hmmpanther:PTHR13223:SF2		Q/L		A	low	829/1261		getma.org/?cm=msa&ty=f&p=FIBP_HUMAN&rb=2&re=364&var=Q239L	tolerated(1)	B4DKH9_HUMAN			YES	FIBP,missense_variant,p.Gln239Leu,ENST00000338369,NM_198897.1;FIBP,missense_variant,p.Gln232Leu,ENST00000357519,NM_004214.4;FIBP,missense_variant,p.Gln229Leu,ENST00000533045,;CTSW,downstream_gene_variant,,ENST00000528419,;CTSW,downstream_gene_variant,,ENST00000307886,NM_001335.3;CTSW,downstream_gene_variant,,ENST00000526034,;FIBP,downstream_gene_variant,,ENST00000426652,;FIBP,splice_acceptor_variant,,ENST00000525765,;FIBP,missense_variant,p.Gln34Leu,ENST00000531115,;FIBP,3_prime_UTR_variant,,ENST00000533037,;FIBP,3_prime_UTR_variant,,ENST00000532229,;FIBP,non_coding_transcript_exon_variant,,ENST00000534032,;FIBP,non_coding_transcript_exon_variant,,ENST00000532934,;FIBP,downstream_gene_variant,,ENST00000528937,;FIBP,downstream_gene_variant,,ENST00000532679,;FIBP,downstream_gene_variant,,ENST00000442885,;CTSW,downstream_gene_variant,,ENST00000524681,;							MODERATE	716/1095	Q239L	FIBP_HUMAN			Transcript		benign(0.027)	.	ENSP00000344572		CCDS8119.1			1	
UNC79	0	LGGM	GRCh37	14	94156582	94156582	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	37	4	.	.	ENST00000256339.4:c.6791T>A	p.Leu2264Gln	p.L2264Q	ENST00000256339	NM_020818.3	2264	cTg/cAg	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		41	0.55		HGNC	p.L2264Q		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94156582,T,A&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		L/Q		A	neutral	7322/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=L2441Q	tolerated(0.34)					UNC79,missense_variant,p.Leu2463Gln,ENST00000553484,;UNC79,missense_variant,p.Leu2402Gln,ENST00000555664,;UNC79,missense_variant,p.Leu2264Gln,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Leu2441Gln,ENST00000393151,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;							MODERATE	7322/7908	L2441Q	UNC79_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376858					1	
EPSTI1	0	LGGM	GRCh37	13	43462440	43462441	+	frameshift_variant	Frame_Shift_Del	DEL	AA	AA	-	novel	by Submitter	H091869	H091869N.bam	AA	AA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	7	4	.	.	ENST00000313640.7:c.1178_1179del	p.Ile393ThrfsTer2	p.I393Tfs*2	ENST00000313640	NM_001002264.2	393	aTT/a	0	1		UPI00016277A6	0		ENST00000398762		ENSG00000133106	16465		11		189	HGNC	p.393_393del		EPSTI1		deletion							ENST00000313640	protein_coding							-		-/957				F5H799_HUMAN				EPSTI1,frameshift_variant,p.Ile393ThrfsTer2,ENST00000313640,NM_001002264.2;EPSTI1,3_prime_UTR_variant,,ENST00000313624,NM_033255.3;EPSTI1,downstream_gene_variant,,ENST00000398762,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;							MODIFIER	-/957		ESIP1_HUMAN			Transcript			.	ENSP00000381746					1	
CERS2	0	LGGM	GRCh37	1	150939277	150939277	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	52	5	.	.	ENST00000271688.6:c.803T>C	p.Phe268Ser	p.F268S	ENST00000271688	NM_181746.3	268	tTc/tCc	0	1	1	UPI0000001237	0	NA	ENST00000271688		ENSG00000143418	14076		57	3.305		HGNC	p.F268S		CERS2		SNV							ENST00000271688	protein_coding	getma.org/?cm=var&var=hg19,1,150939277,A,G&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50922,hmmpanther:PTHR12560:SF7,hmmpanther:PTHR12560,Pfam_domain:PF03798,SMART_domains:SM00724,PIRSF_domain:PIRSF005225		F/S		G	medium	1190/2505		getma.org/?cm=msa&ty=f&p=CERS2_HUMAN&rb=131&re=332&var=F268S	deleterious(0)	Q5SZE6_HUMAN,Q5SZE3_HUMAN,Q5SZE2_HUMAN,Q5SZE1_HUMAN,H0YKH6_HUMAN			YES	CERS2,missense_variant,p.Phe268Ser,ENST00000271688,NM_181746.3;CERS2,missense_variant,p.Phe268Ser,ENST00000368954,NM_022075.4;CERS2,missense_variant,p.Phe259Ser,ENST00000561294,;CERS2,missense_variant,p.Phe116Ser,ENST00000560793,;CERS2,missense_variant,p.Phe268Ser,ENST00000368949,;SETDB1,downstream_gene_variant,,ENST00000271640,NM_001145415.1,NM_012432.3;SETDB1,downstream_gene_variant,,ENST00000368969,;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,downstream_gene_variant,,ENST00000361419,;CERS2,downstream_gene_variant,,ENST00000558062,;CERS2,downstream_gene_variant,,ENST00000421609,;CERS2,downstream_gene_variant,,ENST00000457392,;RP11-316M1.12,downstream_gene_variant,,ENST00000561111,;RP11-316M1.12,downstream_gene_variant,,ENST00000560481,;CERS2,non_coding_transcript_exon_variant,,ENST00000345896,;CERS2,non_coding_transcript_exon_variant,,ENST00000482825,;CERS2,non_coding_transcript_exon_variant,,ENST00000460664,;SETDB1,downstream_gene_variant,,ENST00000497314,;CERS2,downstream_gene_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000528749,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,downstream_gene_variant,,ENST00000559660,;							MODERATE	803/1143	F268S	CERS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000271688		CCDS973.1			1	
VPS13B	0	LGGM	GRCh37	8	100396514	100396514	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	106	5	.	.	ENST00000358544.2:c.2903C>T	p.Pro968Leu	p.P968L	ENST00000358544	NM_017890.4	968	cCt/cTt	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183	0.000174	111	1.04		HGNC	p.P968L	rs200724624	VPS13B		SNV			1				ENST00000357162	protein_coding	getma.org/?cm=var&var=hg19,8,100396514,C,T&fts=all	G:0.0008	hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		P/L		T	low	3014/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=921&re=1120&var=P968L	deleterious(0.01)		G:0	G:0	YES	VPS13B,missense_variant,p.Pro968Leu,ENST00000395996,;VPS13B,missense_variant,p.Pro968Leu,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Pro968Leu,ENST00000357162,NM_152564.4;VPS13B,non_coding_transcript_exon_variant,,ENST00000522802,;VPS13B,missense_variant,p.Pro968Leu,ENST00000496144,;		G:0.0002					MODERATE	2903/12069	P968L	VP13B_HUMAN		G:0	Transcript		probably_damaging(0.981)	.	ENSP00000351346	1.65E-05	CCDS6280.1		G:0	1	
ROBO1	0	LGGM	GRCh37	3	78649395	78649395	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	138	5	.	.	ENST00000464233.1:c.4809C>T	p.Ser1603=	p.S1603=	ENST00000464233	NM_002941.3	1603	tcC/tcT	0	1	1	UPI00000713D9	0		ENST00000464233		ENSG00000169855	10249		143			HGNC	p.S1503S		ROBO1		SNV							ENST00000467549	protein_coding			hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489,Low_complexity_(Seg):seg		S		A		4923/6742							YES	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,,ENST00000466906,;							LOW	4809/4956		ROBO1_HUMAN			Transcript			.	ENSP00000420321		CCDS54611.1			1	
ATM	0	LGGM	GRCh37	11	108129772	108129772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	23	5	.	.	ENST00000278616.4:c.2436G>T	p.Met812Ile	p.M812I	ENST00000278616	NM_000051.3	812	atG/atT	0	1	1	UPI0000DBEF44	0	NA	ENST00000278616		ENSG00000149311	795		28	1.6		HGNC	p.M812I		ATM		SNV			1				ENST00000527805	protein_coding	getma.org/?cm=var&var=hg19,11,108129772,G,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66		M/I		T	low	2821/13147		getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=767&re=966&var=M812I	tolerated(0.34)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,missense_variant,p.Met812Ile,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Met812Ile,ENST00000452508,;ATM,missense_variant,p.Met812Ile,ENST00000527805,;AP001925.1,downstream_gene_variant,,ENST00000596081,;							MODERATE	2436/9171	M812I	ATM_HUMAN			Transcript		benign(0.004)	.	ENSP00000278616		CCDS31669.1			1	
MC5R	0	LGGM	GRCh37	18	13826716	13826716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	45	5	.	.	ENST00000324750.3:c.952G>A	p.Ala318Thr	p.A318T	ENST00000324750	NM_005913.2	318	Gcc/Acc	0	1	1	UPI0000050405	0	NA	ENST00000324750		ENSG00000176136	6933		50	1.15		HGNC	p.A318T	COSM986773	MC5R		SNV						1	ENST00000324750	protein_coding	getma.org/?cm=var&var=hg19,18,13826716,G,A&fts=all		hmmpanther:PTHR22750:SF5,hmmpanther:PTHR22750,Prints_domain:PR01063		A/T		A	low	1174/1319		getma.org/?cm=msa&ty=f&p=MC5R_HUMAN&rb=296&re=325&var=A318T	tolerated_low_confidence(0.48)	K7ER30_HUMAN			YES	MC5R,missense_variant,p.Ala318Thr,ENST00000324750,NM_005913.2;MC5R,downstream_gene_variant,,ENST00000589410,;AP001525.1,upstream_gene_variant,,ENST00000390194,;					1		MODERATE	952/978	A318T	MC5R_HUMAN			Transcript		benign(0.001)	.	ENSP00000318077		CCDS11868.1			1	
TMEM237	0	LGGM	GRCh37	2	202492859	202492859	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	57	5	.	.	ENST00000409883.2:c.883A>G	p.Lys295Glu	p.K295E	ENST00000409883	NM_001044385.2	295	Aaa/Gaa	0	1	1	UPI0000DD5A47	0	NA	ENST00000409883		ENSG00000155755	14432		62	1.78		HGNC	p.K295E		TMEM237		SNV			1				ENST00000409883	protein_coding	getma.org/?cm=var&var=hg19,2,202492859,T,C&fts=all		Pfam_domain:PF15383		K/E		C	low	1000/5415		getma.org/?cm=msa&ty=f&p=TM237_HUMAN&rb=201&re=400&var=K295E	deleterious(0)				YES	TMEM237,missense_variant,p.Lys287Glu,ENST00000409444,NM_152388.3;TMEM237,missense_variant,p.Lys295Glu,ENST00000409883,NM_001044385.2;TMEM237,non_coding_transcript_exon_variant,,ENST00000466839,;TMEM237,non_coding_transcript_exon_variant,,ENST00000471318,;TMEM237,non_coding_transcript_exon_variant,,ENST00000466641,;TMEM237,downstream_gene_variant,,ENST00000489550,;TMEM237,3_prime_UTR_variant,,ENST00000286196,;TMEM237,upstream_gene_variant,,ENST00000495329,;TMEM237,downstream_gene_variant,,ENST00000432684,;TMEM237,downstream_gene_variant,,ENST00000444047,;ENO1P4,upstream_gene_variant,,ENST00000416471,;							MODERATE	883/1227	K295E	TM237_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000386264		CCDS46489.1			1	
TBRG4	0	LGGM	GRCh37	7	45141670	45141670	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	28	6	.	.	ENST00000258770.3:c.1322-1G>T		p.X441_splice	ENST00000258770	NM_004749.3			0	1	1	UPI0000071F89	0		ENST00000258770		ENSG00000136270	17443		34			HGNC	-		TBRG4		SNV							ENST00000395655	protein_coding							A		-/2243				D3DVL7_HUMAN,C9J7P5_HUMAN,C9J618_HUMAN,C9J5A2_HUMAN,C9J347_HUMAN,B4DU42_HUMAN,B3KRS4_HUMAN			YES	TBRG4,splice_acceptor_variant,,ENST00000258770,NM_004749.3;TBRG4,splice_acceptor_variant,,ENST00000395655,;TBRG4,splice_acceptor_variant,,ENST00000494076,NM_001261834.1;TBRG4,splice_acceptor_variant,,ENST00000361278,NM_030900.3,NM_199122.2;TBRG4,splice_acceptor_variant,,ENST00000483615,;TBRG4,downstream_gene_variant,,ENST00000478532,;TBRG4,downstream_gene_variant,,ENST00000461363,;SNORA5C,downstream_gene_variant,,ENST00000364902,NR_002991.1;SNORA5A,downstream_gene_variant,,ENST00000384111,NR_002919.1;SNORA5B,downstream_gene_variant,,ENST00000363786,NR_002990.1;TBRG4,splice_acceptor_variant,,ENST00000495973,;TBRG4,splice_acceptor_variant,,ENST00000478116,;TBRG4,splice_acceptor_variant,,ENST00000482482,;TBRG4,downstream_gene_variant,,ENST00000488222,;TBRG4,downstream_gene_variant,,ENST00000484326,;TBRG4,downstream_gene_variant,,ENST00000477328,;							HIGH	1322/1896		TBRG4_HUMAN			Transcript			.	ENSP00000258770		CCDS5501.1			1	
LILRB3	0	LGGM	GRCh37	19	54724527	54724527	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	28	6	.	.	ENST00000245620.9:c.1129T>C	p.Tyr377His	p.Y377H	ENST00000245620		377	Tac/Cac	0	1	1	UPI0000E04BFA	0	getma.org/pdb.php?prot=LIRB3_HUMAN&from=324&to=401&var=Y377H	ENST00000245620		ENSG00000204577	6607		34	0.835		HGNC	p.Y377H	rs769836804	LILRB3	0.000674	SNV							ENST00000391750	protein_coding	getma.org/?cm=var&var=hg19,19,54724527,A,G&fts=all		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF32,Gene3D:2.60.40.10,Pfam_domain:PF13927,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		Y/H		G	low	1131/2066		getma.org/?cm=msa&ty=f&p=LIRB3_HUMAN&rb=324&re=401&var=Y377H	tolerated(0.13)	C9JWL8_HUMAN			YES	LILRB3,missense_variant,p.Tyr377His,ENST00000391750,;LILRB3,missense_variant,p.Tyr377His,ENST00000424807,NM_006864.2,NM_001081450.1;LILRB3,missense_variant,p.Tyr377His,ENST00000346401,;LILRA6,missense_variant,p.Tyr377His,ENST00000440558,;LILRB3,missense_variant,p.Tyr377His,ENST00000407860,;LILRA6,missense_variant,p.Tyr377His,ENST00000270464,;LILRB3,missense_variant,p.Tyr377His,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,;							MODERATE	1129/1899	Y377H	LIRB3_HUMAN			Transcript		benign(0.036)	common_variant	ENSP00000245620	7.66E-05	CCDS46175.1			1	
MUC4	0	LGGM	GRCh37	3	195509757	195509757	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	132	6	.	.	ENST00000463781.3:c.8694T>A	p.Pro2898=	p.P2898=	ENST00000463781	NM_018406.6	2898	ccT/ccA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		138			HGNC	p.P2898P		MUC4		SNV							ENST00000463781	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,Low_complexity_(Seg):seg		P		T		9154/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	8694/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
FOXN2	0	LGGM	GRCh37	2	48602122	48602122	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	25	7	.	.	ENST00000340553.3:c.836A>G	p.His279Arg	p.H279R	ENST00000340553	NM_002158.3	279	cAt/cGt	0	1	1	UPI0000226321	0	NA	ENST00000340553		ENSG00000170802	5281		32	0		HGNC	p.H279R		FOXN2		SNV							ENST00000340553	protein_coding	getma.org/?cm=var&var=hg19,2,48602122,A,G&fts=all		hmmpanther:PTHR13962,hmmpanther:PTHR13962:SF10		H/R		G	neutral	1097/5408		getma.org/?cm=msa&ty=f&p=FOXN2_HUMAN&rb=215&re=414&var=H279R	tolerated(0.43)	Q6IS90_HUMAN,C9JTA7_HUMAN			YES	FOXN2,missense_variant,p.His279Arg,ENST00000340553,NM_002158.3;FOXN2,downstream_gene_variant,,ENST00000413569,;							MODERATE	836/1296	H279R	FOXN2_HUMAN			Transcript		benign(0.003)	.	ENSP00000343633		CCDS1838.1			1	
COL1A1	0	LGGM	GRCh37	17	48268834	48268834	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	23	7	.	.	ENST00000225964.5:c.2145T>A	p.Pro715=	p.P715=	ENST00000225964	NM_000088.3	715	ccT/ccA	0	1	1	UPI000013C88B	0		ENST00000225964		ENSG00000108821	2197		30			HGNC	p.P715P		COL1A1		SNV			1				ENST00000225964	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54		P		T		2264/6727				Q9UMA6_HUMAN,Q6LAN8_HUMAN			YES	COL1A1,synonymous_variant,p.=,ENST00000225964,NM_000088.3;COL1A1,non_coding_transcript_exon_variant,,ENST00000476387,;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,,ENST00000504289,;COL1A1,downstream_gene_variant,,ENST00000485870,;COL1A1,upstream_gene_variant,,ENST00000494334,;							LOW	2145/4395		CO1A1_HUMAN			Transcript			.	ENSP00000225964		CCDS11561.1			1	
SPRY2	0	LGGM	GRCh37	13	80911636	80911636	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	27	9	.	.	ENST00000377102.1:c.205C>G	p.Pro69Ala	p.P69A	ENST00000377102		69	Cct/Gct	0	1	1	UPI0000001301	0	NA	ENST00000377102		ENSG00000136158	11270		36	0.895		HGNC	p.P69A		SPRY2		SNV							ENST00000377104	protein_coding	getma.org/?cm=var&var=hg19,13,80911636,G,C&fts=all		hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF8		P/A		C	low	1183/2708		getma.org/?cm=msa&ty=f&p=SPY2_HUMAN&rb=1&re=182&var=P69A	tolerated(0.29)				YES	SPRY2,missense_variant,p.Pro69Ala,ENST00000377102,;SPRY2,missense_variant,p.Pro69Ala,ENST00000377104,NM_005842.2;SPRY2,missense_variant,p.Pro69Ala,ENST00000540649,;							MODERATE	205/948	P69A	SPY2_HUMAN			Transcript		benign(0.001)	.	ENSP00000366306		CCDS9463.1			1	
FANCG	0	LGGM	GRCh37	9	35074123	35074123	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	35	10	.	.	ENST00000378643.3:c.1851A>G	p.Pro617=	p.P617=	ENST00000378643	NM_004629.1	617	ccA/ccG	0	1	1	UPI0000000CB4	0		ENST00000378643		ENSG00000221829	3588		45			HGNC	p.P617P		FANCG		SNV			1				ENST00000378643	protein_coding			hmmpanther:PTHR15254		P		C		2343/2631				Q53XM5_HUMAN,C9JSE3_HUMAN			YES	FANCG,synonymous_variant,p.=,ENST00000378643,NM_004629.1;VCP,upstream_gene_variant,,ENST00000358901,NM_007126.3;VCP,upstream_gene_variant,,ENST00000448530,;FANCG,downstream_gene_variant,,ENST00000448890,;VCP,upstream_gene_variant,,ENST00000417448,;FANCG,non_coding_transcript_exon_variant,,ENST00000476212,;FANCG,3_prime_UTR_variant,,ENST00000425676,;VCP,upstream_gene_variant,,ENST00000493886,;FANCG,downstream_gene_variant,,ENST00000462124,;FANCG,downstream_gene_variant,,ENST00000481254,;FANCG,downstream_gene_variant,,ENST00000474894,;FANCG,downstream_gene_variant,,ENST00000461149,;							LOW	1851/1869		FANCG_HUMAN			Transcript			.	ENSP00000367910		CCDS6574.1			1	
CRTC3	0	LGGM	GRCh37	15	91185303	91185303	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	27	10	.	.	ENST00000268184.6:c.1791del	p.Met597IlefsTer2	p.M597Ifs*2	ENST00000268184		597	atG/at	0	1	1	UPI00001FEB98	0		ENST00000268184		ENSG00000140577	26148		37			HGNC	p.M596fs		CRTC3		deletion							ENST00000420329	protein_coding			Pfam_domain:PF12886,hmmpanther:PTHR13589,hmmpanther:PTHR13589:SF4		M/X		-		1795/2537							YES	CRTC3,frameshift_variant,p.Met596IlefsTer2,ENST00000420329,NM_022769.4,NM_001042574.2;CRTC3,frameshift_variant,p.Met597IlefsTer2,ENST00000268184,;RP11-387D10.2,intron_variant,,ENST00000559531,;CRTC3,downstream_gene_variant,,ENST00000558167,;							HIGH	1791/1860		CRTC3_HUMAN			Transcript			.	ENSP00000268184		CCDS32331.1			1	
DISP2	0	LGGM	GRCh37	15	40659278	40659278	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	22	11	.	.	ENST00000267889.3:c.965T>A	p.Phe322Tyr	p.F322Y	ENST00000267889	NM_033510.1	322	tTc/tAc	0	1	1	UPI0000160F9B	0	NA	ENST00000267889		ENSG00000140323	19712		33	1.16		HGNC	p.F322Y		DISP2		SNV							ENST00000267889	protein_coding	getma.org/?cm=var&var=hg19,15,40659278,T,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58		F/Y		A	low	1052/5031		getma.org/?cm=msa&ty=f&p=DISP2_HUMAN&rb=5&re=968&var=F322Y	tolerated(0.1)				YES	DISP2,missense_variant,p.Phe322Tyr,ENST00000267889,NM_033510.1;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;							MODERATE	965/4206	F322Y	DISP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000267889		CCDS10056.1			1	
SYCP1	0	LGGM	GRCh37	1	115487069	115487069	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	15	11	.	.	ENST00000369522.3:c.2036T>C	p.Leu679Ser	p.L679S	ENST00000369522	NM_003176.2	679	tTg/tCg	0	1		UPI00001CE3B9	0	NA	ENST00000369518		ENSG00000198765	11487		26	2.075		HGNC	p.L679S		SYCP1		SNV							ENST00000369522	protein_coding	getma.org/?cm=var&var=hg19,1,115487069,T,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05483,hmmpanther:PTHR18878		L/S		C	medium	2209/3452		getma.org/?cm=msa&ty=f&p=SYCP1_HUMAN&rb=28&re=792&var=L679S	tolerated(0.22)	Q5VXJ5_HUMAN				SYCP1,missense_variant,p.Leu679Ser,ENST00000369522,NM_003176.2,NM_001282541.1;SYCP1,missense_variant,p.Leu679Ser,ENST00000369518,;SYCP1,missense_variant,p.Leu679Ser,ENST00000455987,;SYCP1,non_coding_transcript_exon_variant,,ENST00000482717,;							MODERATE	2036/2931	L679S	SYCP1_HUMAN			Transcript		possibly_damaging(0.624)	.	ENSP00000358531		CCDS879.1			1	
SLTM	0	LGGM	GRCh37	15	59181721	59181721	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	43	11	.	.	ENST00000380516.2:c.2112A>T	p.Arg704=	p.R704=	ENST00000380516	NM_001013843.1	704	cgA/cgT	0	1	1	UPI0000039EA4	0		ENST00000380516		ENSG00000137776	20709		54			HGNC	p.R704R		SLTM		SNV							ENST00000380516	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15683,hmmpanther:PTHR15683:SF5,Low_complexity_(Seg):seg		R		A		2200/4147				H0YKH2_HUMAN,A8K5V8_HUMAN			YES	SLTM,synonymous_variant,p.=,ENST00000380516,NM_001013843.1,NM_024755.2;SLTM,synonymous_variant,p.=,ENST00000536328,;SLTM,synonymous_variant,p.=,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,;							LOW	2112/3105		SLTM_HUMAN			Transcript			.	ENSP00000369887		CCDS10168.2			1	
UNC79	0	LGGM	GRCh37	14	93962780	93962780	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	34	11	.	.	ENST00000256339.4:c.205T>A	p.Cys69Ser	p.C69S	ENST00000256339	NM_020818.3	69	Tgc/Agc	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		45	0.785		HGNC	p.C69S		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,93962780,T,A&fts=all		Pfam_domain:PF14776,hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		C/S		A	neutral	736/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=1&re=939&var=C246S	tolerated(0.16)					UNC79,missense_variant,p.Cys246Ser,ENST00000553484,;UNC79,missense_variant,p.Cys246Ser,ENST00000555664,;UNC79,missense_variant,p.Cys69Ser,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Cys246Ser,ENST00000393151,;							MODERATE	736/7908	C246S	UNC79_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000376858					1	
ZNF597	0	LGGM	GRCh37	16	3487490	3487490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	48	11	.	.	ENST00000301744.4:c.209T>C	p.Met70Thr	p.M70T	ENST00000301744	NM_152457.1	70	aTg/aCg	0	1	1	UPI0000070B73	0	NA	ENST00000301744		ENSG00000167981	26573		59	-0.57		HGNC	p.M70T		ZNF597		SNV							ENST00000301744	protein_coding	getma.org/?cm=var&var=hg19,16,3487490,A,G&fts=all		hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF50,SMART_domains:SM00349		M/T		G	neutral	445/1831		getma.org/?cm=msa&ty=f&p=ZN597_HUMAN&rb=14&re=88&var=M70T	tolerated(0.18)				YES	ZNF597,missense_variant,p.Met70Thr,ENST00000301744,NM_152457.1;NAA60,intron_variant,,ENST00000575785,;							MODERATE	209/1275	M70T	ZN597_HUMAN			Transcript		benign(0.007)	.	ENSP00000301744		CCDS10505.1			1	
NOL4	0	LGGM	GRCh37	18	31523027	31523027	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	49	12	.	.	ENST00000261592.5:c.1542+2T>A		p.X514_splice	ENST00000261592	NM_001198546.1			0	1	1	UPI000059D504	0		ENST00000261592		ENSG00000101746	7870		61			HGNC	-		NOL4		SNV							ENST00000261592	protein_coding							T		-/3957							YES	NOL4,splice_donor_variant,,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,splice_donor_variant,,ENST00000535475,;NOL4,splice_donor_variant,,ENST00000538587,NM_001198547.1;NOL4,splice_donor_variant,,ENST00000590712,;NOL4,splice_donor_variant,,ENST00000535384,NM_001198549.1;NOL4,splice_donor_variant,,ENST00000586553,;NOL4,intron_variant,,ENST00000269185,NM_001198548.1;NOL4,intron_variant,,ENST00000589544,;NOL4,splice_donor_variant,,ENST00000586314,;							HIGH	1542/1917		NOL4_HUMAN			Transcript			.	ENSP00000261592		CCDS11907.2			1	
ADAM12	0	LGGM	GRCh37	10	127734650	127734650	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	26	12	.	.	ENST00000368679.4:c.1978T>G	p.Cys660Gly	p.C660G	ENST00000368679	NM_003474.4	660	Tgt/Ggt	0	1	1	UPI000036672C	0	NA	ENST00000368679		ENSG00000148848	190		38	3.195		HGNC	p.C660G		ADAM12		SNV							ENST00000368679	protein_coding	getma.org/?cm=var&var=hg19,10,127734650,A,C&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905		C/G		C	medium	2288/7938		getma.org/?cm=msa&ty=f&p=ADA12_HUMAN&rb=656&re=688&var=C660G	deleterious(0)				YES	ADAM12,missense_variant,p.Cys660Gly,ENST00000368679,NM_003474.4;ADAM12,missense_variant,p.Cys660Gly,ENST00000368676,NM_021641.3;ADAM12,downstream_gene_variant,,ENST00000467145,;							MODERATE	1978/2730	C660G	ADA12_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357668		CCDS7653.1			1	
FBXL12	0	LGGM	GRCh37	19	9921952	9921952	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	22	12	.	.	ENST00000247977.4:c.601C>G	p.Leu201Val	p.L201V	ENST00000247977	NM_017703.1	201	Ctc/Gtc	0	1	1	UPI000006EBD0	0	NA	ENST00000247977		ENSG00000127452	13611		34	0.55		HGNC	p.L148V		FBXL12		SNV							ENST00000585379	protein_coding	getma.org/?cm=var&var=hg19,19,9921952,G,C&fts=all		hmmpanther:PTHR23125:SF265,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		L/V		C	neutral	843/1852		getma.org/?cm=msa&ty=f&p=FXL12_HUMAN&rb=51&re=250&var=L201V	deleterious(0.01)	K7EPN7_HUMAN,K7ELM5_HUMAN			YES	FBXL12,missense_variant,p.Leu201Val,ENST00000247977,NM_017703.1;FBXL12,missense_variant,p.Leu148Val,ENST00000591009,;FBXL12,missense_variant,p.Leu148Val,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,;							MODERATE	601/981	L201V	FXL12_HUMAN			Transcript		possibly_damaging(0.624)	.	ENSP00000247977		CCDS12218.1			1	
CD93	0	LGGM	GRCh37	20	23065896	23065896	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	25	12	.	.	ENST00000246006.4:c.934C>T	p.Arg312Cys	p.R312C	ENST00000246006	NM_012072.3	312	Cgt/Tgt	0	1	1	UPI00001273BC	0	NA	ENST00000246006		ENSG00000125810	15855	8.65E-05	37	1.825		HGNC	p.R312C	rs762071141	CD93		SNV							ENST00000246006	protein_coding	getma.org/?cm=var&var=hg19,20,23065896,G,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF261,Gene3D:3.10.100.10,PIRSF_domain:PIRSF001775,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		R/C		A	low	1082/6708		getma.org/?cm=msa&ty=f&p=C1QR1_HUMAN&rb=302&re=344&var=R312C	deleterious(0.03)				YES	CD93,missense_variant,p.Arg312Cys,ENST00000246006,NM_012072.3;AL118508.1,upstream_gene_variant,,ENST00000539654,;							MODERATE	934/1959	R312C	C1QR1_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000246006	8.24E-06	CCDS13149.1			1	
PKDREJ	0	LGGM	GRCh37	22	46655420	46655420	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	33	12	.	.	ENST00000253255.5:c.3800G>T	p.Ser1267Ile	p.S1267I	ENST00000253255	NM_006071.1	1267	aGc/aTc	0	1	1	UPI0000031D01	0	getma.org/pdb.php?prot=PKDRE_HUMAN&from=1232&to=1344&var=S1267I	ENST00000253255		ENSG00000130943	9015		45	2.27		HGNC	p.S1267I		PKDREJ		SNV							ENST00000253255	protein_coding	getma.org/?cm=var&var=hg19,22,46655420,C,A&fts=all		PROSITE_profiles:PS50095,hmmpanther:PTHR10877:SF113,hmmpanther:PTHR10877,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723		S/I		A	medium	3800/7660		getma.org/?cm=msa&ty=f&p=PKDRE_HUMAN&rb=1232&re=1344&var=S1267I	deleterious(0.01)	A6MW40_HUMAN			YES	PKDREJ,missense_variant,p.Ser1267Ile,ENST00000253255,NM_006071.1;							MODERATE	3800/6762	S1267I	PKDRE_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000253255		CCDS14073.1			1	
POLE2	0	LGGM	GRCh37	14	50133081	50133081	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	31	13	.	.	ENST00000216367.5:c.543G>T	p.Ala181=	p.A181=	ENST00000216367	NM_002692.3	181	gcG/gcT	0	1	1	UPI0000129744	0		ENST00000216367		ENSG00000100479	9178		44			HGNC	p.A181A		POLE2		SNV							ENST00000216367	protein_coding			PIRSF_domain:PIRSF000799,hmmpanther:PTHR12708,hmmpanther:PTHR12708:SF0		A		A		643/1776							YES	POLE2,synonymous_variant,p.=,ENST00000539565,NM_001197330.1;POLE2,synonymous_variant,p.=,ENST00000216367,NM_002692.3;POLE2,synonymous_variant,p.=,ENST00000554396,NM_001197331.1;POLE2,non_coding_transcript_exon_variant,,ENST00000556584,;							LOW	543/1584		DPOE2_HUMAN			Transcript			.	ENSP00000216367		CCDS32073.1			1	
TIAM1	0	LGGM	GRCh37	21	32624318	32624318	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	26	15	.	.	ENST00000286827.3:c.1151A>G	p.Tyr384Cys	p.Y384C	ENST00000286827	NM_003253.2	384	tAc/tGc	0	1	1	UPI000013DE6F	0	NA	ENST00000286827		ENSG00000156299	11805		41	1.975		HGNC	p.Y384C		TIAM1		SNV							ENST00000541036	protein_coding	getma.org/?cm=var&var=hg19,21,32624318,T,C&fts=all		hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826,Coiled-coils_(Ncoils):Coil		Y/C		C	medium	1623/7200		getma.org/?cm=msa&ty=f&p=TIAM1_HUMAN&rb=1&re=429&var=Y384C	deleterious(0)	C9JMB5_HUMAN			YES	TIAM1,missense_variant,p.Tyr384Cys,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Tyr384Cys,ENST00000541036,;TIAM1,non_coding_transcript_exon_variant,,ENST00000469412,;							MODERATE	1151/4776	Y384C	TIAM1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286827		CCDS13609.1			1	
RPL23	0	LGGM	GRCh37	17	37009292	37009292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	40	15	.	.	ENST00000479035.2:c.80A>G	p.Asn27Ser	p.N27S	ENST00000479035	NM_000978.3	27	aAt/aGt	0	1		UPI0000006BF5	0	getma.org/pdb.php?prot=RL23_HUMAN&from=19&to=140&var=N27S	ENST00000394332		ENSG00000125691	10316		55	3.405		HGNC	p.N27S	rs751328610	RPL23		SNV				9.62E-05			ENST00000394333	protein_coding	getma.org/?cm=var&var=hg19,17,37009292,T,C&fts=all		hmmpanther:PTHR11761,Pfam_domain:PF00238,Gene3D:2.40.150.20,Superfamily_domains:SSF50193		N/S		C	medium	92/625	1.50E-05	getma.org/?cm=msa&ty=f&p=RL23_HUMAN&rb=19&re=140&var=N27S	deleterious(0.02)	Q9BTQ7_HUMAN,J3QQT9_HUMAN,J3KTJ3_HUMAN				RPL23,missense_variant,p.Asn27Ser,ENST00000479035,NM_000978.3;RPL23,missense_variant,p.Asn27Ser,ENST00000394332,;RPL23,missense_variant,p.Asn27Ser,ENST00000577407,;RPL23,missense_variant,p.Asn27Ser,ENST00000394333,;RPL23,missense_variant,p.Asn31Ser,ENST00000378096,;RPL23,5_prime_UTR_variant,,ENST00000245857,;RPL23,5_prime_UTR_variant,,ENST00000470646,;SNORA21,upstream_gene_variant,,ENST00000516890,;SNORA21,upstream_gene_variant,,ENST00000362423,NR_002576.1;RPL23,non_coding_transcript_exon_variant,,ENST00000577760,;RPL23,non_coding_transcript_exon_variant,,ENST00000584912,;RPL23,non_coding_transcript_exon_variant,,ENST00000584056,;RPL23,upstream_gene_variant,,ENST00000584583,;RPS20P35,upstream_gene_variant,,ENST00000462007,;							MODERATE	80/423	N27S	RL23_HUMAN			Transcript		benign(0.035)	.	ENSP00000377865	1.65E-05	CCDS11330.1			1	
PCLO	0	LGGM	GRCh37	7	82545039	82545039	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	48	16	.	.	ENST00000333891.9:c.12263C>A	p.Ser4088Tyr	p.S4088Y	ENST00000333891	NM_033026.5	4088	tCt/tAt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		64	1.1		HGNC	p.S4088Y		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82545039,G,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		S/Y		T	low	12601/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=S4019Y					YES	PCLO,missense_variant,p.Ser4088Tyr,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ser4088Tyr,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Ser808Tyr,ENST00000437081,;							MODERATE	12263/15429	S4019Y	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
MYH6	0	LGGM	GRCh37	14	23871763	23871763	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	54	16	.	.	ENST00000405093.3:c.1051T>A	p.Tyr351Asn	p.Y351N	ENST00000405093	NM_002471.3	351	Tac/Aac	0	1		UPI0000160969	0	getma.org/pdb.php?prot=MYH6_HUMAN&from=87&to=768&var=Y351N	ENST00000356287		ENSG00000197616	7576		70	3.835		HGNC	p.Y351N		MYH6		SNV			1				ENST00000356287	protein_coding	getma.org/?cm=var&var=hg19,14,23871763,A,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,SMART_domains:SM00242,Superfamily_domains:SSF52540		Y/N		T	high	1081/5871		getma.org/?cm=msa&ty=f&p=MYH6_HUMAN&rb=87&re=768&var=Y351N	deleterious(0)	Q9UQV1_HUMAN,A8CLL2_HUMAN				MYH6,missense_variant,p.Tyr351Asn,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Tyr351Asn,ENST00000356287,;MYH6,non_coding_transcript_exon_variant,,ENST00000557461,;							MODERATE	1051/5820	Y351N	MYH6_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000348634		CCDS9600.1			1	
CASC5	0	LGGM	GRCh37	15	40912873	40912873	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	29	16	.	.	ENST00000346991.5:c.489T>C	p.His163=	p.H163=	ENST00000346991		163	caT/caC	0	1	1	UPI0000E59BD3	0		ENST00000346991		ENSG00000137812	24054		45			HGNC	p.H163H		CASC5		SNV			1				ENST00000346991	protein_coding			hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2		H		C		879/9573							YES	CASC5,synonymous_variant,p.=,ENST00000346991,;CASC5,synonymous_variant,p.=,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,3_prime_UTR_variant,,ENST00000527044,;RN7SL376P,upstream_gene_variant,,ENST00000578594,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;							LOW	489/7029		CASC5_HUMAN			Transcript			.	ENSP00000335463		CCDS42023.1			1	
GRM7	0	LGGM	GRCh37	3	7188286	7188286	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	37	16	.	.	ENST00000357716.4:c.667A>T	p.Thr223Ser	p.T223S	ENST00000357716	NM_000844.3	223	Acc/Tcc	0	1	1	UPI000004A7E3	0	getma.org/pdb.php?prot=GRM7_HUMAN&from=77&to=484&var=T223S	ENST00000357716		ENSG00000196277	4599		53	3.35		HGNC	p.T223S		GRM7		SNV							ENST00000402647	protein_coding	getma.org/?cm=var&var=hg19,3,7188286,A,T&fts=all		hmmpanther:PTHR24060:SF104,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00248		T/S		T	medium	941/4127		getma.org/?cm=msa&ty=f&p=GRM7_HUMAN&rb=77&re=484&var=T223S	deleterious(0)	C9JU97_HUMAN			YES	GRM7,missense_variant,p.Thr223Ser,ENST00000486284,NM_181874.2;GRM7,missense_variant,p.Thr223Ser,ENST00000357716,NM_000844.3;GRM7,missense_variant,p.Thr223Ser,ENST00000389336,;GRM7,missense_variant,p.Thr223Ser,ENST00000402647,;GRM7,missense_variant,p.Thr223Ser,ENST00000403881,;GRM7,missense_variant,p.Thr15Ser,ENST00000448328,;GRM7,missense_variant,p.Thr223Ser,ENST00000467425,;GRM7,missense_variant,p.Thr223Ser,ENST00000440923,;GRM7,missense_variant,p.Thr223Ser,ENST00000389335,;GRM7,3_prime_UTR_variant,,ENST00000435689,;GRM7,3_prime_UTR_variant,,ENST00000443259,;							MODERATE	667/2748	T223S	GRM7_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000350348		CCDS43042.1			1	
MTO1	0	LGGM	GRCh37	6	74190450	74190450	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	30	17	.	.	ENST00000415954.2:c.1182G>A	p.Leu394=	p.L394=	ENST00000415954	NM_001123226.1	394	ttG/ttA	0	1		UPI000012F816	0		ENST00000370300		ENSG00000135297	19261	8.64E-05	47			HGNC	p.L345L	rs759603080	MTO1		SNV			1				ENST00000370305	protein_coding			Pfam_domain:PF01134,hmmpanther:PTHR11806,hmmpanther:PTHR11806:SF3		L		A		1347/2961								MTO1,synonymous_variant,p.=,ENST00000498286,;MTO1,synonymous_variant,p.=,ENST00000370300,NM_012123.3,NM_133645.2;MTO1,synonymous_variant,p.=,ENST00000415954,NM_001123226.1;MTO1,synonymous_variant,p.=,ENST00000370305,;MTO1,upstream_gene_variant,,ENST00000521156,;AL603910.1,downstream_gene_variant,,ENST00000580608,;MTO1,non_coding_transcript_exon_variant,,ENST00000520366,;MTO1,synonymous_variant,p.=,ENST00000445187,;MTO1,synonymous_variant,p.=,ENST00000524046,;MTO1,3_prime_UTR_variant,,ENST00000415228,;MTO1,non_coding_transcript_exon_variant,,ENST00000370308,;MTO1,non_coding_transcript_exon_variant,,ENST00000462039,;MTO1,non_coding_transcript_exon_variant,,ENST00000487960,;MTO1,upstream_gene_variant,,ENST00000523763,;MTO1,downstream_gene_variant,,ENST00000442897,;MTO1,downstream_gene_variant,,ENST00000466977,;							LOW	1257/2154		MTO1_HUMAN			Transcript			.	ENSP00000359323	8.24E-06	CCDS4979.1			1	
IGSF9	0	LGGM	GRCh37	1	159897253	159897253	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	19	17	.	.	ENST00000368094.1:c.3422G>A	p.Arg1141His	p.R1141H	ENST00000368094	NM_001135050.1	1141	cGc/cAc	0	1	1	UPI000004A10B	0	NA	ENST00000368094		ENSG00000085552	18132	0.000173	36	0.895		HGNC	p.R1125H	rs765308809	IGSF9		SNV							ENST00000361509	protein_coding	getma.org/?cm=var&var=hg19,1,159897253,C,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF534		R/H		T	low	3620/4044	3.07E-05	getma.org/?cm=msa&ty=f&p=TUTLA_HUMAN&rb=1109&re=1179&var=R1141H	deleterious_low_confidence(0)	Q6XYD8_HUMAN			YES	IGSF9,missense_variant,p.Arg1141His,ENST00000368094,NM_001135050.1;IGSF9,missense_variant,p.Arg1125His,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,;							MODERATE	3422/3540	R1141H	TUTLA_HUMAN	0.000454		Transcript		probably_damaging(0.998)	common_variant	ENSP00000357073	5.77E-05	CCDS44254.1			1	
KDR	0	LGGM	GRCh37	4	55964344	55964344	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	42	20	.	.	ENST00000263923.4:c.2469T>A	p.Asp823Glu	p.D823E	ENST00000263923	NM_002253.2	823	gaT/gaA	0	1	1	UPI000003AE04	0	getma.org/pdb.php?prot=VGFR2_HUMAN&from=755&to=833&var=D823E	ENST00000263923		ENSG00000128052	6307		62	2.415		HGNC	p.D823E		KDR		SNV			1				ENST00000263923	protein_coding	getma.org/?cm=var&var=hg19,4,55964344,A,T&fts=all		Gene3D:3.30.200.20,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF45,Superfamily_domains:SSF56112		D/E		T	medium	2765/5831		getma.org/?cm=msa&ty=f&p=VGFR2_HUMAN&rb=755&re=833&var=D823E	deleterious(0)	B4DEK3_HUMAN			YES	KDR,missense_variant,p.Asp823Glu,ENST00000263923,NM_002253.2;KDR,upstream_gene_variant,,ENST00000509309,;							MODERATE	2469/4071	D823E	VGFR2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263923		CCDS3497.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232650381	232650381	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	135	20	.	.	ENST00000366630.1:c.705C>T	p.Arg235=	p.R235=	ENST00000366630		235	cgC/cgT	0	1		UPI00001D7D6A	0		ENST00000262861		ENSG00000116991	23800		155			HGNC	p.R235R		SIPA1L2		SNV							ENST00000366630	protein_coding			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		R		A		932/6555								SIPA1L2,synonymous_variant,p.=,ENST00000366630,;SIPA1L2,synonymous_variant,p.=,ENST00000262861,NM_020808.3;							LOW	705/5169		SI1L2_HUMAN			Transcript			.	ENSP00000262861		CCDS41474.1			1	
S100A7A	0	LGGM	GRCh37	1	153390561	153390561	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	154	21	.	.	ENST00000368729.4:c.3G>T	p.Met1?	p.M1?	ENST00000368729	NM_176823.3	1	atG/atT	0	1		UPI000000D89D	0	NA	ENST00000329256		ENSG00000184330	21657		175	0		HGNC	p.M1I		S100A7A		SNV							ENST00000368728	protein_coding	getma.org/?cm=var&var=hg19,1,153390561,G,T&fts=all		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF64		M/I		T	NA	142/491		http://getma.org/?cm=msa&ty=f&p=S1A7A_HUMAN&rb=1&re=35&var=M1I	tolerated(0.09)					S100A7A,start_lost,p.Met1?,ENST00000368729,NM_176823.3;S100A7A,start_lost,p.Met1?,ENST00000329256,;S100A7A,start_lost,p.Met1?,ENST00000368728,;							HIGH	3/306	M1I	S1A7A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000329008		CCDS30872.1			1	
KITLG	0	LGGM	GRCh37	12	88910176	88910176	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	82	22	.	.	ENST00000228280.5:c.455A>G	p.Lys152Arg	p.K152R	ENST00000228280	NM_000899.4	152	aAg/aGg	0	1	1	UPI000002D482	0	getma.org/pdb.php?prot=SCF_HUMAN&from=1&to=273&var=K152R	ENST00000228280		ENSG00000049130	6343		104	1.655		HGNC	p.K117R		KITLG		SNV			1				ENST00000378535	protein_coding	getma.org/?cm=var&var=hg19,12,88910176,T,C&fts=all		Superfamily_domains:SSF47266,PIRSF_domain:PIRSF015599,Gene3D:1.20.1250.10,Pfam_domain:PF02404,hmmpanther:PTHR11574		K/R		C	low	638/1642		getma.org/?cm=msa&ty=f&p=SCF_HUMAN&rb=1&re=273&var=K152R	deleterious(0.03)	S4R442_HUMAN,S4R384_HUMAN			YES	KITLG,missense_variant,p.Lys152Arg,ENST00000347404,NM_003994.5;KITLG,missense_variant,p.Lys152Arg,ENST00000228280,NM_000899.4;KITLG,intron_variant,,ENST00000357116,;KITLG,downstream_gene_variant,,ENST00000552044,;KITLG,non_coding_transcript_exon_variant,,ENST00000378535,;							MODERATE	455/822	K152R	SCF_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000228280		CCDS31868.1			1	
KLK10	0	LGGM	GRCh37	19	51518760	51518760	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	92	23	.	.	ENST00000309958.3:c.591C>T	p.Ser197=	p.S197=	ENST00000309958	NM_002776.4	197	agC/agT	0	1	1	UPI000013CCB0	0		ENST00000309958		ENSG00000129451	6358		115			HGNC	p.S197S		KLK10		SNV							ENST00000391805	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF36,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		S		A		810/3111				M0R132_HUMAN			YES	KLK10,synonymous_variant,p.=,ENST00000309958,NM_002776.4;KLK10,synonymous_variant,p.=,ENST00000391805,NM_001077500.1;KLK10,synonymous_variant,p.=,ENST00000358789,NM_145888.2;KLK10,downstream_gene_variant,,ENST00000599077,;CTB-147C22.9,downstream_gene_variant,,ENST00000594512,;CTC-518B2.12,downstream_gene_variant,,ENST00000596286,;KLK10,3_prime_UTR_variant,,ENST00000601467,;KLK10,downstream_gene_variant,,ENST00000599987,;							LOW	591/831		KLK10_HUMAN			Transcript			.	ENSP00000311746		CCDS12817.1			1	
MKI67	0	LGGM	GRCh37	10	129914079	129914079	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	46	26	.	.	ENST00000368654.3:c.593C>A	p.Pro198His	p.P198H	ENST00000368654	NM_002417.4	198	cCc/cAc	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		72	0.895		HGNC	p.P198H		MKI67		SNV							ENST00000368654	protein_coding	getma.org/?cm=var&var=hg19,10,129914079,G,T&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3		P/H		T	low	969/12678		getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=101&re=492&var=P198H	deleterious(0)				YES	MKI67,missense_variant,p.Pro198His,ENST00000368654,NM_002417.4;MKI67,intron_variant,,ENST00000368653,NM_001145966.1;MKI67,non_coding_transcript_exon_variant,,ENST00000478293,;MKI67,upstream_gene_variant,,ENST00000484853,;							MODERATE	593/9771	P198H	KI67_HUMAN			Transcript		possibly_damaging(0.831)	.	ENSP00000357643		CCDS7659.1			1	
VEZT	0	LGGM	GRCh37	12	95694252	95694252	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	65	32	.	.	ENST00000436874.1:c.2143A>T	p.Arg715Trp	p.R715W	ENST00000436874	NM_017599.3	715	Agg/Tgg	0	1	1	UPI00001FB2EC	0	NA	ENST00000436874		ENSG00000028203	18258		97	1.59		HGNC	p.R715W		VEZT		SNV							ENST00000436874	protein_coding	getma.org/?cm=var&var=hg19,12,95694252,A,T&fts=all		hmmpanther:PTHR15989,hmmpanther:PTHR15989:SF5		R/W		T	low	2248/4562		getma.org/?cm=msa&ty=f&p=VEZA_HUMAN&rb=641&re=779&var=R715W	deleterious(0)				YES	VEZT,missense_variant,p.Arg715Trp,ENST00000436874,NM_017599.3;VEZT,missense_variant,p.Arg667Trp,ENST00000261219,;VEZT,missense_variant,p.Arg671Trp,ENST00000397792,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000552306,;VEZT,downstream_gene_variant,,ENST00000551695,;VEZT,downstream_gene_variant,,ENST00000546951,;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,downstream_gene_variant,,ENST00000549192,;							MODERATE	2143/2340	R715W	VEZA_HUMAN			Transcript		possibly_damaging(0.664)	.	ENSP00000410083		CCDS44954.1			1	
TRMT12	0	LGGM	GRCh37	8	125463841	125463841	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	66	34	.	.	ENST00000328599.3:c.673A>C	p.Lys225Gln	p.K225Q	ENST00000328599	NM_017956.3	225	Aag/Cag	0	1	1	UPI0000140A61	0	getma.org/pdb.php?prot=TYW2_HUMAN&from=134&to=336&var=K225Q	ENST00000328599		ENSG00000183665	26091		100	3.18		HGNC	p.K225Q		TRMT12		SNV							ENST00000328599	protein_coding	getma.org/?cm=var&var=hg19,8,125463841,A,C&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF02475,PROSITE_profiles:PS51684,hmmpanther:PTHR23245,hmmpanther:PTHR23245:SF33,Superfamily_domains:SSF53335		K/Q		C	medium	794/2215		getma.org/?cm=msa&ty=f&p=TYW2_HUMAN&rb=134&re=336&var=K225Q	deleterious(0)				YES	TRMT12,missense_variant,p.Lys225Gln,ENST00000328599,NM_017956.3;TRMT12,intron_variant,,ENST00000521443,;TRMT12,intron_variant,,ENST00000522518,;							MODERATE	673/1347	K225Q	TYW2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329858		CCDS6349.1			1	
FLG	0	LGGM	GRCh37	1	152277397	152277397	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	369	38	.	.	ENST00000368799.1:c.9965A>C	p.Gln3322Pro	p.Q3322P	ENST00000368799	NM_002016.1	3322	cAa/cCa	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		407	1.995		HGNC	p.Q3322P		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152277397,T,G&fts=all		Pfam_domain:PF03516		Q/P		G	medium	10001/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3292&re=3346&var=Q3322P		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Gln3322Pro,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							MODERATE	9965/12186	Q3322P	FILA_HUMAN			Transcript		unknown(0)	.	ENSP00000357789		CCDS30860.1			1	
SLC12A1	0	LGGM	GRCh37	15	48539146	48539146	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	139	54	.	.	ENST00000396577.3:c.1493C>T	p.Ala498Val	p.A498V	ENST00000396577	NM_001184832.1	498	gCg/gTg	0	1		UPI0000229BFB	0	NA	ENST00000380993		ENSG00000074803	10910		193	1.95		HGNC	p.A498V	COSM1734636,COSM1734635	SLC12A1		SNV			1			1,1	ENST00000396577	protein_coding	getma.org/?cm=var&var=hg19,15,48539146,C,T&fts=all		hmmpanther:PTHR11827:SF45,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930		A/V		T	medium	1709/4707		getma.org/?cm=msa&ty=f&p=S12A1_HUMAN&rb=182&re=686&var=A498V	deleterious(0.02)	O76029_HUMAN,H0YLJ2_HUMAN				SLC12A1,missense_variant,p.Ala498Val,ENST00000396577,NM_001184832.1;SLC12A1,missense_variant,p.Ala498Val,ENST00000380993,NM_000338.2;SLC12A1,missense_variant,p.Ala498Val,ENST00000558405,;SLC12A1,missense_variant,p.Ala311Val,ENST00000559641,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000560692,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000558252,;					1,1		MODERATE	1493/3300	A498V	S12A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370381		CCDS10129.2			1	
AHNAK	0	LGGM	GRCh37	11	62290045	62290045	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091869	H091869N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	180	73	.	.	ENST00000378024.4:c.11844A>G	p.Glu3948=	p.E3948=	ENST00000378024	NM_001620.2	3948	gaA/gaG	0	1	1	UPI00004EC29C	0		ENST00000378024		ENSG00000124942	347		253			HGNC	p.E3948E		AHNAK		SNV							ENST00000378024	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		E		C		12119/18787				E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,synonymous_variant,p.=,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;							LOW	11844/17673		AHNK_HUMAN			Transcript			.	ENSP00000367263		CCDS31584.1			1	
SETDB1	0	LGGM	GRCh37	1	150936839	150936839	+	stop_lost	Nonstop_Mutation	SNP	A	A	C	novel	by Submitter	H091869	H091869N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	59	73	.	.	ENST00000271640.5:c.3875A>C	p.Ter1292SerextTer23	p.*1292Sext*23	ENST00000271640	NM_001145415.1	1292	tAg/tCg	0	1	1	UPI0000135897	0		ENST00000271640		ENSG00000143379	10761		132			HGNC	p.X1291S		SETDB1		SNV							ENST00000368969	protein_coding					*/S		C		4065/4437				E9PS59_HUMAN,B0QZE6_HUMAN			YES	SETDB1,stop_lost,p.Ter1292SerextTer23,ENST00000271640,NM_001145415.1,NM_012432.3;SETDB1,stop_lost,p.Ter1291SerextTer23,ENST00000368969,;CERS2,missense_variant,p.Leu363Arg,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,non_coding_transcript_exon_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,;							HIGH	3875/3876		SETB1_HUMAN			Transcript			.	ENSP00000271640		CCDS44217.1			1	
ASH1L	0	LGGM	GRCh37	1	155448950	155448950	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091869	H091869N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	180	77	.	.	ENST00000392403.3:c.3711C>T	p.Thr1237=	p.T1237=	ENST00000392403	NM_018489.2	1237	acC/acT	0	1		UPI000013D5D2	0		ENST00000368346		ENSG00000116539	19088		257			HGNC	p.T1237T		ASH1L		SNV							ENST00000392403	protein_coding			hmmpanther:PTHR22884:SF311,hmmpanther:PTHR22884		T		A		4351/11942								ASH1L,synonymous_variant,p.=,ENST00000368346,;ASH1L,synonymous_variant,p.=,ENST00000392403,NM_018489.2;ASH1L,downstream_gene_variant,,ENST00000548830,;							LOW	3711/8910		ASH1L_HUMAN			Transcript			.	ENSP00000357330					1	
ATRX	0	LGGM	GRCh37	X	76854976	76854976	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091869	H091869N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091869N.bam, H091869T.bam	Illumina HiSeq	118	94	.	.	ENST00000373344.5:c.5860G>A	p.Val1954Met	p.V1954M	ENST00000373344	NM_000489.3	1954	Gtg/Atg	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		212	1.385		HGNC	p.V1916M		ATRX		SNV			1				ENST00000395603	protein_coding	getma.org/?cm=var&var=hg19,X,76854976,C,T&fts=all		hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		V/M		T	low	6075/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=1890&re=2075&var=V1954M		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Val1954Met,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Val1916Met,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,downstream_gene_variant,,ENST00000479487,;							MODERATE	5860/7479	V1954M	ATRX_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000362441		CCDS14434.1			1	
DPY19L1	0	LGGM	GRCh37	7	35057558	35057558	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	22	3	.	.	ENST00000310974.4:c.128A>T	p.Glu43Val	p.E43V	ENST00000310974	NM_015283.1	43	gAa/gTa	0	1	1	UPI000067CB92	0	NA	ENST00000310974		ENSG00000173852	22205		25	2.775		HGNC	p.E43V		DPY19L1		SNV							ENST00000310974	protein_coding	getma.org/?cm=var&var=hg19,7,35057558,T,A&fts=all		Pfam_domain:PF10034,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF5		E/V		A	medium	273/4870		getma.org/?cm=msa&ty=f&p=D19L1_HUMAN&rb=27&re=672&var=E43V	deleterious(0)				YES	DPY19L1,missense_variant,p.Glu43Val,ENST00000310974,NM_015283.1;DPY19L1,non_coding_transcript_exon_variant,,ENST00000481923,;							MODERATE	128/2028	E43V	D19L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308695		CCDS43567.1			1	
OLFM1	0	LGGM	GRCh37	9	138011536	138011536	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	31	3	.	.	ENST00000252854.4:c.916G>C	p.Asp306His	p.D306H	ENST00000252854	NM_014279.4	306	Gac/Cac	0	1		UPI000013DB05	0	NA	ENST00000371793		ENSG00000130558	17187		34	0.85		HGNC	p.D297H		OLFM1		SNV							ENST00000371796	protein_coding	getma.org/?cm=var&var=hg19,9,138011536,G,C&fts=all		Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF34,SMART_domains:SM00284,Superfamily_domains:SSF50969		D/H		C	low	1221/2444		getma.org/?cm=msa&ty=f&p=NOE1_HUMAN&rb=229&re=478&var=D324H	tolerated(0.86)	Q96BL8_HUMAN,F5H810_HUMAN,F5GZQ2_HUMAN,B3KR22_HUMAN				OLFM1,missense_variant,p.Asp306His,ENST00000252854,NM_014279.4;OLFM1,missense_variant,p.Asp297His,ENST00000371796,NM_001282612.1;OLFM1,missense_variant,p.Asp324His,ENST00000371793,NM_001282611.1;OLFM1,3_prime_UTR_variant,,ENST00000545657,;OLFM1,downstream_gene_variant,,ENST00000539877,;OLFM1,non_coding_transcript_exon_variant,,ENST00000483042,;							MODERATE	970/1458	D324H	NOE1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000360858		CCDS65184.1			1	
AFAP1L1	0	LGGM	GRCh37	5	148689639	148689639	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	24	3	.	.	ENST00000296721.4:c.868G>T	p.Ala290Ser	p.A290S	ENST00000296721	NM_152406.2	290	Gct/Tct	0	1	1	UPI00001C1E2F	0	NA	ENST00000296721		ENSG00000157510	26714		27	0.345		HGNC	p.A290S		AFAP1L1		SNV							ENST00000296721	protein_coding	getma.org/?cm=var&var=hg19,5,148689639,G,T&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,PROSITE_profiles:PS50003		A/S		T	neutral	966/4177		getma.org/?cm=msa&ty=f&p=AF1L1_HUMAN&rb=221&re=316&var=A290S	deleterious(0.01)				YES	AFAP1L1,missense_variant,p.Ala290Ser,ENST00000296721,NM_152406.2,NM_001146337.1;AFAP1L1,missense_variant,p.Ala290Ser,ENST00000515000,;AFAP1L1,downstream_gene_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;							MODERATE	868/2307	A290S	AF1L1_HUMAN			Transcript		benign(0.297)	.	ENSP00000296721		CCDS34274.1			1	
KCND3	0	LGGM	GRCh37	1	112318779	112318779	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	20	3	.	.	ENST00000315987.2:c.1888C>T	p.Arg630Trp	p.R630W	ENST00000315987	NM_004980.4	630	Cgg/Tgg	0	1	1	UPI000003050A	0	NA	ENST00000315987		ENSG00000171385	6239		23	1.04		HGNC	p.R630W		KCND3		SNV			1				ENST00000315987	protein_coding	getma.org/?cm=var&var=hg19,1,112318779,G,A&fts=all				R/W		A	low	2368/2716		getma.org/?cm=msa&ty=f&p=KCND3_HUMAN&rb=565&re=655&var=R630W	deleterious_low_confidence(0.04)				YES	KCND3,missense_variant,p.Arg611Trp,ENST00000369697,;KCND3,missense_variant,p.Arg630Trp,ENST00000315987,NM_004980.4;KCND3,missense_variant,p.Arg611Trp,ENST00000302127,NM_172198.2;							MODERATE	1888/1968	R630W	KCND3_HUMAN			Transcript		possibly_damaging(0.689)	.	ENSP00000319591		CCDS843.1			1	
RP1	0	LGGM	GRCh37	8	55542331	55542331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	38	3	.	.	ENST00000220676.1:c.5889C>A	p.Asp1963Glu	p.D1963E	ENST00000220676	NM_006269.1	1963	gaC/gaA	0	1	1	UPI000013455B	0	NA	ENST00000220676		ENSG00000104237	10263		41	0.345		HGNC	p.D1963E		RP1		SNV			1				ENST00000220676	protein_coding	getma.org/?cm=var&var=hg19,8,55542331,C,A&fts=all		hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		D/E		A	neutral	6037/7100		getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=1736&re=1965&var=D1963E	tolerated(0.16)	A0FDN2_HUMAN			YES	RP1,missense_variant,p.Asp1963Glu,ENST00000220676,NM_006269.1;							MODERATE	5889/6471	D1963E	RP1_HUMAN			Transcript		benign(0.079)	.	ENSP00000220676		CCDS6160.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	67	4	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	71			HGNC	p.P34P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000526811	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
VCX	0	LGGM	GRCh37	X	7811821	7811822	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H091908	H091908N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	10	5	.	.	ENST00000381059.3:c.385_386insG	p.Gln129ArgfsTer?	p.Q129Rfs*?	ENST00000381059	NM_013452.2	129	cag/cGag	0	1	1	UPI0000138291	0		ENST00000381059		ENSG00000182583	12667		15			HGNC	p.Q129fs		VCX		insertion							ENST00000381059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231,Pfam_domain:PF15231		Q/RX		G		604-605/967							YES	VCX,frameshift_variant,p.Gln129ArgfsTer?,ENST00000381059,NM_013452.2;VCX,intron_variant,,ENST00000341408,;							HIGH	385-386/621		VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
VCX	0	LGGM	GRCh37	X	7811818	7811818	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	9	5	.	.	ENST00000381059.3:c.382del	p.Ser128AlafsTer7	p.S128Afs*7	ENST00000381059	NM_013452.2	128	Agc/gc	0	1	1	UPI0000138291	0		ENST00000381059		ENSG00000182583	12667		14			HGNC	p.S128fs	TMP_ESP_X_7811818_7811818	VCX		deletion	-:0.1915						ENST00000381059	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231,Pfam_domain:PF15231		S/X	-:0.1053	-		601/967							YES	VCX,frameshift_variant,p.Ser128AlafsTer7,ENST00000381059,NM_013452.2;VCX,intron_variant,,ENST00000341408,;							HIGH	382/621		VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
DPP8	0	LGGM	GRCh37	15	65790202	65790202	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	46	4	.	.	ENST00000341861.5:c.763G>T	p.Glu255Ter	p.E255*	ENST00000341861	NM_197960.2	255	Gag/Tag	0	1	1	UPI00001BFAFE	0	NA	ENST00000341861		ENSG00000074603	16490		50	0		HGNC	p.E255X		DPP8		SNV							ENST00000339244	protein_coding	getma.org/?cm=var&var=hg19,15,65790202,C,A&fts=all		Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF98,Superfamily_domains:SSF82171		E/*		A	NA	2344/8699		NA		H0YN53_HUMAN,H0YMV1_HUMAN			YES	DPP8,stop_gained,p.Glu255Ter,ENST00000341861,NM_197960.2;DPP8,stop_gained,p.Glu239Ter,ENST00000300141,NM_130434.3;DPP8,stop_gained,p.Glu255Ter,ENST00000321147,NM_197961.2;DPP8,stop_gained,p.Glu255Ter,ENST00000321118,;DPP8,stop_gained,p.Glu255Ter,ENST00000559233,;DPP8,stop_gained,p.Glu239Ter,ENST00000358939,NM_017743.4;DPP8,stop_gained,p.Glu255Ter,ENST00000339244,;DPP8,downstream_gene_variant,,ENST00000558529,;DPP8,downstream_gene_variant,,ENST00000559526,;Y_RNA,upstream_gene_variant,,ENST00000516408,;DPP8,stop_gained,p.Glu255Ter,ENST00000395652,;							HIGH	763/2697	E255*	DPP8_HUMAN			Transcript			.	ENSP00000339208		CCDS10207.1			1	
ZNF43	0	LGGM	GRCh37	19	21991932	21991932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	59	4	.	.	ENST00000354959.4:c.907G>A	p.Glu303Lys	p.E303K	ENST00000354959	NM_003423.3	303	Gaa/Aaa	0	1	1	UPI00001BD957	0	getma.org/pdb.php?prot=ZNF43_HUMAN&from=300&to=325&var=E303K	ENST00000354959		ENSG00000198521	13109		63	-0.705		HGNC	p.E297K		ZNF43		SNV							ENST00000598381	protein_coding	getma.org/?cm=var&var=hg19,19,21991932,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		E/K		T	neutral	1077/2881		getma.org/?cm=msa&ty=f&p=ZNF43_HUMAN&rb=280&re=345&var=E303K	tolerated(1)	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN			YES	ZNF43,missense_variant,p.Glu297Lys,ENST00000594012,NM_001256649.1,NM_001256654.1,NM_001256653.1,NM_001256651.1;ZNF43,missense_variant,p.Glu297Lys,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Glu297Lys,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Glu303Lys,ENST00000354959,NM_003423.3;ZNF43,downstream_gene_variant,,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;							MODERATE	907/2430	E303K	ZNF43_HUMAN			Transcript		benign(0.033)	.	ENSP00000347045		CCDS12413.2			1	
SLC45A4	0	LGGM	GRCh37	8	142228571	142228571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	22	4	.	.	ENST00000024061.3:c.1015C>T	p.Pro339Ser	p.P339S	ENST00000024061	NM_001080431.1	339	Ccc/Tcc	0	1	1	UPI0000237468	0	NA	ENST00000024061		ENSG00000022567	29196		26	1.67		HGNC	p.P332S		SLC45A4		SNV							ENST00000433583	protein_coding	getma.org/?cm=var&var=hg19,8,142228571,G,A&fts=all		hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432		P/S		A	low	1323/3546		getma.org/?cm=msa&ty=f&p=S45A4_HUMAN&rb=270&re=469&var=P390S	tolerated(0.1)	E5RJM7_HUMAN			YES	SLC45A4,missense_variant,p.Pro339Ser,ENST00000519067,NM_001286648.1;SLC45A4,missense_variant,p.Pro339Ser,ENST00000024061,NM_001080431.1;SLC45A4,missense_variant,p.Pro390Ser,ENST00000517878,;SLC45A4,missense_variant,p.Pro332Ser,ENST00000433583,;SLC45A4,downstream_gene_variant,,ENST00000520137,;SLC45A4,downstream_gene_variant,,ENST00000519986,;							MODERATE	1015/2397	P390S	S45A4_HUMAN			Transcript		benign(0.02)	.	ENSP00000024061		CCDS34948.1			1	
USP46	0	LGGM	GRCh37	4	53494145	53494145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	95	4	.	.	ENST00000441222.3:c.303G>T	p.Lys101Asn	p.K101N	ENST00000441222	NM_022832.3	101	aaG/aaT	0	1	1	UPI0000006C18	0	getma.org/pdb.php?prot=UBP46_HUMAN&from=32&to=362&var=K101N	ENST00000441222		ENSG00000109189	20075		99	1.77		HGNC	p.K94N		USP46		SNV							ENST00000508499	protein_coding	getma.org/?cm=var&var=hg19,4,53494145,C,A&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24619,hmmpanther:PTHR24619:SF120,Superfamily_domains:SSF54001		K/N		A	low	488/7954		getma.org/?cm=msa&ty=f&p=UBP46_HUMAN&rb=32&re=362&var=K101N	tolerated(0.06)				YES	USP46,missense_variant,p.Lys101Asn,ENST00000441222,NM_022832.3,NM_001286767.1;USP46,missense_variant,p.Lys74Asn,ENST00000451218,;USP46,missense_variant,p.Lys94Asn,ENST00000508499,NM_001134223.1;USP46,non_coding_transcript_exon_variant,,ENST00000506707,;USP46,downstream_gene_variant,,ENST00000504078,;USP46,3_prime_UTR_variant,,ENST00000503060,;USP46,3_prime_UTR_variant,,ENST00000514536,;USP46,non_coding_transcript_exon_variant,,ENST00000502443,;USP46,downstream_gene_variant,,ENST00000512656,;							MODERATE	303/1101	K101N	UBP46_HUMAN			Transcript		benign(0.141)	.	ENSP00000407818		CCDS47053.1			1	
ABCB5	0	LGGM	GRCh37	7	20784884	20784884	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	38	4	.	.	ENST00000404938.2:c.3252G>C	p.Leu1084Phe	p.L1084F	ENST00000404938	NM_001163941.1	1084	ttG/ttC	0	1	1	UPI000173A253	0	getma.org/pdb.php?prot=ABCB5_HUMAN&from=612&to=739&var=L639F	ENST00000404938		ENSG00000004846	46		42	0.995		HGNC	p.L251F		ABCB5		SNV							ENST00000441315	protein_coding	getma.org/?cm=var&var=hg19,7,20784884,G,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,SMART_domains:SM00382,Superfamily_domains:SSF52540		L/F		C	low	3904/5811		getma.org/?cm=msa&ty=f&p=ABCB5_HUMAN&rb=612&re=739&var=L639F	deleterious(0.04)				YES	ABCB5,missense_variant,p.Leu1084Phe,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Leu639Phe,ENST00000258738,NM_178559.5;ABCB5,missense_variant,p.Leu251Phe,ENST00000441315,;							MODERATE	3252/3774	L639F	ABCB5_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000384881		CCDS55090.1			1	
LRP5	0	LGGM	GRCh37	11	68154058	68154058	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	12	5	.	.	ENST00000294304.7:c.1290C>G	p.Leu430=	p.L430=	ENST00000294304	NM_002335.2	430	ctC/ctG	0	1	1	UPI0000073246	0		ENST00000294304		ENSG00000162337	6697		17			HGNC	p.L430L		LRP5		SNV			1				ENST00000294304	protein_coding			Superfamily_domains:SSF63825,PIRSF_domain:PIRSF036314,SMART_domains:SM00135,Pfam_domain:PF00058,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		L		G		1396/5159				E9PHY1_HUMAN			YES	LRP5,synonymous_variant,p.=,ENST00000294304,NM_002335.2;LRP5,synonymous_variant,p.=,ENST00000529993,;							LOW	1290/4848		LRP5_HUMAN			Transcript			.	ENSP00000294304		CCDS8181.1			1	
NFE2L3	0	LGGM	GRCh37	7	26225208	26225208	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	48	5	.	.	ENST00000056233.3:c.1890T>C	p.Ala630=	p.A630=	ENST00000056233	NM_004289.6	630	gcT/gcC	0	1	1	UPI000007206C	0		ENST00000056233		ENSG00000050344	7783		53			HGNC	p.A630A		NFE2L3		SNV							ENST00000056233	protein_coding			Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03131,PROSITE_profiles:PS50217,hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF8,SMART_domains:SM00338,Superfamily_domains:SSF57959		A		C		2149/3686							YES	NFE2L3,synonymous_variant,p.=,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,;							LOW	1890/2085		NF2L3_HUMAN			Transcript			.	ENSP00000056233		CCDS5396.1			1	
ARSK	0	LGGM	GRCh37	5	94918889	94918889	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	40	5	.	.	ENST00000380009.4:c.686A>G	p.Tyr229Cys	p.Y229C	ENST00000380009	NM_198150.2	229	tAt/tGt	0	1	1	UPI000004C65F	0	getma.org/pdb.php?prot=ARSK_HUMAN&from=32&to=451&var=Y229C	ENST00000380009		ENSG00000164291	25239		45	2.94		HGNC	p.Y229C		ARSK		SNV							ENST00000504873	protein_coding	getma.org/?cm=var&var=hg19,5,94918889,A,G&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF192,Pfam_domain:PF00884,Gene3D:3.40.720.10,Superfamily_domains:SSF53649		Y/C		G	medium	891/3354		getma.org/?cm=msa&ty=f&p=ARSK_HUMAN&rb=32&re=451&var=Y229C	deleterious(0)				YES	ARSK,missense_variant,p.Tyr229Cys,ENST00000380009,NM_198150.2;ARSK,missense_variant,p.Tyr229Cys,ENST00000504873,;ARSK,3_prime_UTR_variant,,ENST00000513814,;ARSK,3_prime_UTR_variant,,ENST00000512106,;							MODERATE	686/1611	Y229C	ARSK_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000369346		CCDS4073.1			1	
STRIP2	0	LGGM	GRCh37	7	129099394	129099394	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	43	5	.	.	ENST00000249344.2:c.1377C>T	p.Ile459=	p.I459=	ENST00000249344	NM_020704.2	459	atC/atT	0	1	1	UPI00001C1E68	0		ENST00000249344		ENSG00000128578	22209		48			HGNC	p.I459I		STRIP2		SNV							ENST00000435494	protein_coding			Pfam_domain:PF11882,hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		I		T		1417/5115				A4D1K4_HUMAN			YES	STRIP2,synonymous_variant,p.=,ENST00000249344,NM_020704.2;STRIP2,synonymous_variant,p.=,ENST00000435494,NM_001134336.1;STRIP2,non_coding_transcript_exon_variant,,ENST00000465033,;							LOW	1377/2505		STRP2_HUMAN			Transcript			.	ENSP00000249344		CCDS34752.1			1	
SLITRK5	0	LGGM	GRCh37	13	88330341	88330341	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	49	5	.	.	ENST00000325089.6:c.2698C>A	p.Gln900Lys	p.Q900K	ENST00000325089	NM_015567.1	900	Cag/Aag	0	1	1	UPI000015F6F7	0	NA	ENST00000325089		ENSG00000165300	20295		54	1.09		HGNC	p.Q659K		SLITRK5		SNV							ENST00000400028	protein_coding	getma.org/?cm=var&var=hg19,13,88330341,C,A&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10		Q/K		A	low	2917/4447		getma.org/?cm=msa&ty=f&p=SLIK5_HUMAN&rb=765&re=958&var=Q900K	tolerated(0.09)				YES	SLITRK5,missense_variant,p.Gln900Lys,ENST00000325089,NM_015567.1;SLITRK5,missense_variant,p.Gln659Lys,ENST00000400028,;							MODERATE	2698/2877	Q900K	SLIK5_HUMAN			Transcript		benign(0.103)	.	ENSP00000366283		CCDS9465.1			1	
ANAPC1	0	LGGM	GRCh37	2	112545844	112545844	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	132	6	.	.	ENST00000341068.3:c.4766A>G	p.Tyr1589Cys	p.Y1589C	ENST00000341068	NM_022662.3	1589	tAt/tGt	0	1	1	UPI000006EC6E	0	NA	ENST00000341068		ENSG00000153107	19988		138	2.805		HGNC	p.Y1589C	rs370250588	ANAPC1		SNV	A:0						ENST00000341068	protein_coding	getma.org/?cm=var&var=hg19,2,112545844,T,C&fts=all		hmmpanther:PTHR12827		Y/C	A:0.0001	C	medium	5539/8259	1.55E-05	getma.org/?cm=msa&ty=f&p=APC1_HUMAN&rb=1428&re=1627&var=Y1589C	deleterious(0)				YES	ANAPC1,missense_variant,p.Tyr1589Cys,ENST00000341068,NM_022662.3;ANAPC1,missense_variant,p.Tyr1124Cys,ENST00000427997,;ANAPC1,downstream_gene_variant,,ENST00000464695,;							MODERATE	4766/5835	Y1589C	APC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339109	8.24E-06	CCDS2093.1			1	
ARHGAP10	0	LGGM	GRCh37	4	148744051	148744051	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	39	6	.	.	ENST00000336498.3:c.255T>A	p.Ala85=	p.A85=	ENST00000336498	NM_024605.3	85	gcT/gcA	0	1	1	UPI000013EA63	0		ENST00000336498		ENSG00000071205	26099		45			HGNC	p.A85A		ARHGAP10		SNV							ENST00000336498	protein_coding			hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1y2oA00,Superfamily_domains:SSF103657		A		A		494/3299				Q8ND72_HUMAN,Q3KQX3_HUMAN			YES	ARHGAP10,synonymous_variant,p.=,ENST00000336498,NM_024605.3;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000510379,;							LOW	255/2361		RHG10_HUMAN			Transcript			.	ENSP00000336923		CCDS34075.1			1	
AZI2	0	LGGM	GRCh37	3	28382054	28382054	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	44	6	.	.	ENST00000479665.1:c.55A>G	p.Lys19Glu	p.K19E	ENST00000479665	NM_022461.4	19	Aag/Gag	0	1	1	UPI000006CE34	0	NA	ENST00000479665		ENSG00000163512	24002		50	1.39		HGNC	p.K19E		AZI2		SNV							ENST00000415852	protein_coding	getma.org/?cm=var&var=hg19,3,28382054,T,C&fts=all		hmmpanther:PTHR14432		K/E		C	low	587/4706		getma.org/?cm=msa&ty=f&p=AZI2_HUMAN&rb=1&re=200&var=K19E	tolerated(0.17)	C9JVK8_HUMAN,C9JGA2_HUMAN			YES	AZI2,missense_variant,p.Lys19Glu,ENST00000479665,NM_022461.4,NM_001271650.1;AZI2,missense_variant,p.Lys19Glu,ENST00000420543,NM_001134432.1,NM_001134433.1;AZI2,missense_variant,p.Lys19Glu,ENST00000457172,;AZI2,missense_variant,p.Lys19Glu,ENST00000414162,;AZI2,missense_variant,p.Lys19Glu,ENST00000334100,;AZI2,missense_variant,p.Lys19Glu,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,;							MODERATE	55/1179	K19E	AZI2_HUMAN			Transcript		benign(0.001)	.	ENSP00000419371		CCDS2647.1			1	
FBN2	0	LGGM	GRCh37	5	127609533	127609533	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	41	6	.	.	ENST00000508053.1:c.7839A>T	p.Glu2613Asp	p.E2613D	ENST00000508053		2613	gaA/gaT	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=2571&to=2613&var=E2613D	ENST00000262464		ENSG00000138829	3604		47	0.86		HGNC	p.E2613D		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127609533,T,A&fts=all		Gene3D:2.10.25.10,PIRSF_domain:PIRSF036312,Prints_domain:PR00010,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		E/D		A	low	8278/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=2571&re=2613&var=E2613D	tolerated(0.09)					FBN2,missense_variant,p.Glu2613Asp,ENST00000508053,;FBN2,missense_variant,p.Glu2613Asp,ENST00000262464,NM_001999.3;							MODERATE	7839/8739	E2613D	FBN2_HUMAN			Transcript		benign(0.006)	.	ENSP00000262464		CCDS34222.1			1	
COL3A1	0	LGGM	GRCh37	2	189871078	189871078	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	30	6	.	.	ENST00000304636.3:c.3101G>A	p.Arg1034His	p.R1034H	ENST00000304636	NM_000090.3	1034	cGt/cAt	0	1	1	UPI0000456EBA	0	NA	ENST00000304636		ENSG00000168542	2201	8.64E-05	36	3.715		HGNC	p.R1034H	rs780788248,COSM1669593	COL3A1	6.06E-05	SNV			1			0,1	ENST00000304636	protein_coding	getma.org/?cm=var&var=hg19,2,189871078,G,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415		R/H		A	high	3271/5543	1.50E-05	getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=1027&re=1076&var=R1034H		Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,missense_variant,p.Arg1034His,ENST00000304636,NM_000090.3;COL3A1,intron_variant,,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000487010,;COL3A1,downstream_gene_variant,,ENST00000467886,;					0,1		MODERATE	3101/4401	R1034H	CO3A1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000304408	2.47E-05	CCDS2297.1			1	
CHRNA9	0	LGGM	GRCh37	4	40356177	40356177	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	63	7	.	.	ENST00000310169.2:c.1080C>T	p.Ser360=	p.S360=	ENST00000310169	NM_017581.3	360	agC/agT	0	1	1	UPI000013EFB8	0		ENST00000310169		ENSG00000174343	14079		70			HGNC	p.S360S		CHRNA9		SNV							ENST00000310169	protein_coding			Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF214,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860		S		T		1219/2276							YES	CHRNA9,synonymous_variant,p.=,ENST00000310169,NM_017581.3;CHRNA9,downstream_gene_variant,,ENST00000509518,;							LOW	1080/1440		ACHA9_HUMAN			Transcript			.	ENSP00000312663		CCDS3459.1			1	
ROS1	0	LGGM	GRCh37	6	117650545	117650545	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	65	7	.	.	ENST00000368508.3:c.5313G>T	p.Trp1771Cys	p.W1771C	ENST00000368508	NM_002944.2	1771	tgG/tgT	0	1	1	UPI000013D467	0	getma.org/pdb.php?prot=ROS1_HUMAN&from=1749&to=1851&var=W1771C	ENST00000368508		ENSG00000047936	10261		72	3.165		HGNC	p.W78C		ROS1		SNV							ENST00000403284	protein_coding	getma.org/?cm=var&var=hg19,6,117650545,C,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304,SMART_domains:SM00060,Superfamily_domains:SSF49265		W/C		A	medium	5512/7435		getma.org/?cm=msa&ty=f&p=ROS1_HUMAN&rb=1749&re=1851&var=W1771C	deleterious(0)				YES	ROS1,missense_variant,p.Trp1771Cys,ENST00000368508,NM_002944.2;ROS1,missense_variant,p.Trp1765Cys,ENST00000368507,;ROS1,missense_variant,p.Trp78Cys,ENST00000403284,;GOPC,intron_variant,,ENST00000467125,;							MODERATE	5313/7044	W1771C	ROS1_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000357494		CCDS5116.1			1	
MVP	0	LGGM	GRCh37	16	29856081	29856081	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	18	7	.	.	ENST00000357402.5:c.1902G>A	p.Val634=	p.V634=	ENST00000357402	NM_017458.3	634	gtG/gtA	0	1	1	UPI000012FA9C	0		ENST00000357402		ENSG00000013364	7531		25			HGNC	p.V634V		MVP		SNV							ENST00000395353	protein_coding			hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165,Pfam_domain:PF11978		V		A		2040/2865				H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN			YES	MVP,synonymous_variant,p.=,ENST00000357402,NM_017458.3,NM_005115.4;MVP,synonymous_variant,p.=,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,;							LOW	1902/2682		MVP_HUMAN			Transcript			.	ENSP00000349977		CCDS10656.1			1	
IFIT2	0	LGGM	GRCh37	10	91066381	91066381	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	54	7	.	.	ENST00000371826.3:c.668G>A	p.Arg223His	p.R223H	ENST00000371826	NM_001547.4	223	cGt/cAt	0	1	1	UPI000012D3E4	0	NA	ENST00000371826		ENSG00000119922	5409	8.67E-05	61	0		HGNC	p.R223H	rs757639216	IFIT2		SNV							ENST00000371826	protein_coding	getma.org/?cm=var&var=hg19,10,91066381,G,A&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR10271:SF4,hmmpanther:PTHR10271,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		R/H		A	neutral	837/3489	4.50E-05	getma.org/?cm=msa&ty=f&p=IFIT2_HUMAN&rb=84&re=245&var=R223H	tolerated(0.4)				YES	IFIT2,missense_variant,p.Arg223His,ENST00000371826,NM_001547.4;LIPA,intron_variant,,ENST00000371837,;LIPA,intron_variant,,ENST00000282673,;LIPA,intron_variant,,ENST00000487618,;LIPA,intron_variant,,ENST00000463623,;	0.000232						MODERATE	668/1419	R223H	IFIT2_HUMAN			Transcript		benign(0)	.	ENSP00000360891	4.96E-05	CCDS41548.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26237008	26237008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	99	7	.	.	ENST00000354667.4:c.227A>T	p.Asp76Val	p.D76V	ENST00000354667	NM_031243.2	76	gAt/gTt	0	1	1	UPI000002F091	0	getma.org/pdb.php?prot=ROA2_HUMAN&from=23&to=92&var=D76V	ENST00000354667		ENSG00000122566	5033		106	1.66		HGNC	p.D64V		HNRNPA2B1		SNV			1				ENST00000356674	protein_coding	getma.org/?cm=var&var=hg19,7,26237008,T,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		D/V		A	low	396/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=23&re=92&var=D76V	deleterious(0)				YES	HNRNPA2B1,missense_variant,p.Asp76Val,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Asp64Val,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;HNRNPA2B1,missense_variant,p.Asp76Val,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;							MODERATE	227/1062	D76V	ROA2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000346694		CCDS43557.1			1	
RUNX1	0	LGGM	GRCh37	21	36171703	36171703	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	28	7	.	.	ENST00000300305.3:c.862C>G	p.Leu288Val	p.L288V	ENST00000300305		288	Ctg/Gtg	0	1		UPI0000141569	0	NA	ENST00000344691		ENSG00000159216	10471		35	2.365		HGNC	p.L276V		RUNX1		SNV			1				ENST00000325074	protein_coding	getma.org/?cm=var&var=hg19,21,36171703,G,C&fts=all		hmmpanther:PTHR11950,PIRSF_domain:PIRSF009374		L/V		C	medium	2359/7274		getma.org/?cm=msa&ty=f&p=RUNX1_HUMAN&rb=183&re=358&var=L261V	deleterious(0.01)					RUNX1,missense_variant,p.Leu261Val,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Leu288Val,ENST00000300305,;RUNX1,missense_variant,p.Leu288Val,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Leu276Val,ENST00000325074,;RUNX1,missense_variant,p.Leu197Val,ENST00000399240,;RUNX1,3_prime_UTR_variant,,ENST00000482318,;							MODERATE	781/1362	L261V	RUNX1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000340690		CCDS42922.1			1	
PRUNE2	0	LGGM	GRCh37	9	79326078	79326078	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	50	8	.	.	ENST00000376718.3:c.1112C>T	p.Ala371Val	p.A371V	ENST00000376718	NM_015225.2	371	gCc/gTc	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		58	1.04		HGNC	p.A12V		PRUNE2		SNV							ENST00000428286	protein_coding	getma.org/?cm=var&var=hg19,9,79326078,G,A&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		A/V		A	low	1236/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=365&re=564&var=A371V	deleterious(0)				YES	PRUNE2,missense_variant,p.Ala12Val,ENST00000428286,;PRUNE2,missense_variant,p.Ala371Val,ENST00000376718,NM_015225.2;PRUNE2,upstream_gene_variant,,ENST00000426088,;							MODERATE	1112/9267	A371V	PRUN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000365908		CCDS47982.1			1	
CSMD2	0	LGGM	GRCh37	1	34037135	34037135	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	37	8	.	.	ENST00000241312.4:c.7960C>T	p.Arg2654Ter	p.R2654*	ENST00000241312		2654	Cga/Tga	0	1	1	UPI00004561AB	0	NA	ENST00000241312		ENSG00000121904	19290		45	0		HGNC	p.R2654X		CSMD2		SNV							ENST00000241312	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,34037135,G,A&fts=all		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF334,Superfamily_domains:SSF57535		R/*		A	NA	7989/13108		NA					YES	CSMD2,stop_gained,p.Arg2652Ter,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,non_coding_transcript_exon_variant,,ENST00000465819,;CSMD2,stop_gained,p.Arg2654Ter,ENST00000241312,;							HIGH	7960/10464	R2654*	CSMD2_HUMAN			Transcript			.	ENSP00000241312		CCDS380.1			1	
OR6N2	0	LGGM	GRCh37	1	158746554	158746554	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	73	8	.	.	ENST00000339258.1:c.872G>T	p.Ser291Ile	p.S291I	ENST00000339258	NM_001005278.1	291	aGt/aTt	0	1	1	UPI0000041C8E	0	NA	ENST00000339258		ENSG00000188340	15035		81	2.445		HGNC	p.S291I		OR6N2		SNV							ENST00000339258	protein_coding	getma.org/?cm=var&var=hg19,1,158746554,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00245,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF68,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/I		A	medium	872/954		getma.org/?cm=msa&ty=f&p=OR6N2_HUMAN&rb=284&re=317&var=S291I	deleterious(0)				YES	OR6N2,missense_variant,p.Ser291Ile,ENST00000339258,NM_001005278.1;							MODERATE	872/954	S291I	OR6N2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000344101		CCDS30906.1			1	
COL1A2	0	LGGM	GRCh37	7	94037675	94037675	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	33	8	.	.	ENST00000297268.6:c.721G>T	p.Gly241Cys	p.G241C	ENST00000297268	NM_000089.3	241	Ggt/Tgt	0	1	1	UPI00003B0CFC	0	getma.org/pdb.php?prot=CO1A2_HUMAN&from=208&to=407&var=G241C	ENST00000297268		ENSG00000164692	2198		41	4.06		HGNC	p.G241C		COL1A2		SNV			1				ENST00000297268	protein_coding	getma.org/?cm=var&var=hg19,7,94037675,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441		G/C		T	high	1192/5411		getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=208&re=407&var=G241C		Q75N18_HUMAN,A2TIK1_HUMAN			YES	COL1A2,missense_variant,p.Gly241Cys,ENST00000297268,NM_000089.3;							MODERATE	721/4101	G241C	CO1A2_HUMAN			Transcript		unknown(0)	.	ENSP00000297268		CCDS34682.1			1	
ARHGAP29	0	LGGM	GRCh37	1	94645349	94645349	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	96	8	.	.	ENST00000260526.6:c.2412A>G	p.Lys804=	p.K804=	ENST00000260526	NM_004815.3	804	aaA/aaG	0	1	1	UPI000013D0E4	0		ENST00000260526		ENSG00000137962	30207		104			HGNC	p.K804K		ARHGAP29		SNV							ENST00000260526	protein_coding			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF7,SMART_domains:SM00324,Superfamily_domains:SSF48350		K		C		2595/6087							YES	ARHGAP29,synonymous_variant,p.=,ENST00000260526,NM_004815.3;ARHGAP29,non_coding_transcript_exon_variant,,ENST00000482481,;ARHGAP29,synonymous_variant,p.=,ENST00000552844,;							LOW	2412/3786		RHG29_HUMAN			Transcript			.	ENSP00000260526		CCDS748.1			1	
ZNF727	0	LGGM	GRCh37	7	63538488	63538488	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	56	8	.	.	ENST00000550760.3:c.1061C>A	p.Thr354Asn	p.T354N	ENST00000550760	NM_001159522.1	354	aCc/aAc	0	1	1	UPI0001A23134	0	getma.org/pdb.php?prot=ZN727_HUMAN&from=352&to=381&var=T354N	ENST00000550760		ENSG00000257482	22785		64	-0.465		HGNC	p.T354N		ZNF727		SNV							ENST00000550760	protein_coding	getma.org/?cm=var&var=hg19,7,63538488,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF79,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/N		A	neutral	1240/1679		getma.org/?cm=msa&ty=f&p=ZN727_HUMAN&rb=352&re=381&var=T354N	tolerated(0.49)				YES	ZNF727,missense_variant,p.Thr354Asn,ENST00000550760,NM_001159522.1;RP11-3N2.13,downstream_gene_variant,,ENST00000445978,;RP11-3N2.13,non_coding_transcript_exon_variant,,ENST00000456806,;RP11-3N2.13,upstream_gene_variant,,ENST00000430271,;							MODERATE	1061/1500	T354N	ZN727_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000447987		CCDS55113.1			1	
CLEC4E	0	LGGM	GRCh37	12	8691865	8691865	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	64	9	.	.	ENST00000299663.3:c.168G>A	p.Lys56=	p.K56=	ENST00000299663	NM_014358.2	56	aaG/aaA	0	1	1	UPI0000037798	0		ENST00000299663		ENSG00000166523	14555		73			HGNC	p.K56K		CLEC4E		SNV							ENST00000446457	protein_coding			hmmpanther:PTHR22802:SF217,hmmpanther:PTHR22802		K		T		334/2159							YES	CLEC4E,synonymous_variant,p.=,ENST00000299663,NM_014358.2;CLEC4E,synonymous_variant,p.=,ENST00000545274,;CLEC4E,synonymous_variant,p.=,ENST00000446457,;CLEC4E,upstream_gene_variant,,ENST00000537698,;CLEC4E,synonymous_variant,p.=,ENST00000450725,;CLEC4E,non_coding_transcript_exon_variant,,ENST00000446809,;							LOW	168/660		CLC4E_HUMAN			Transcript			.	ENSP00000299663		CCDS8594.1			1	
SRRT	0	LGGM	GRCh37	7	100484695	100484695	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	71	9	.	.	ENST00000347433.4:c.1849C>T	p.Arg617Cys	p.R617C	ENST00000347433		617	Cgc/Tgc	0	1	1	UPI0000126098	0	NA	ENST00000347433		ENSG00000087087	24101		80	2.505		HGNC	p.R617C		SRRT		SNV							ENST00000457580	protein_coding	getma.org/?cm=var&var=hg19,7,100484695,C,T&fts=all		hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0		R/C		T	medium	2007/2904		getma.org/?cm=msa&ty=f&p=SRRT_HUMAN&rb=465&re=635&var=R617C	deleterious(0)				YES	SRRT,missense_variant,p.Arg616Cys,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,missense_variant,p.Arg617Cys,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,missense_variant,p.Arg617Cys,ENST00000347433,;SRRT,missense_variant,p.Arg616Cys,ENST00000432932,;SRRT,missense_variant,p.Arg247Cys,ENST00000448764,;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.3;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000426415,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,non_coding_transcript_exon_variant,,ENST00000487311,;SRRT,non_coding_transcript_exon_variant,,ENST00000469602,;ACHE,downstream_gene_variant,,ENST00000454485,;ACHE,downstream_gene_variant,,ENST00000442452,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,downstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,downstream_gene_variant,,ENST00000466432,;							MODERATE	1849/2631	R617C	SRRT_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000314491		CCDS34709.1			1	
GPR12	0	LGGM	GRCh37	13	27333653	27333653	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	55	10	.	.	ENST00000405846.3:c.312C>G	p.Ala104=	p.A104=	ENST00000405846	NM_005288.3	104	gcC/gcG	0	1		UPI000003EC24	0		ENST00000381436		ENSG00000132975	4466		65			HGNC	p.A104A		GPR12		SNV							ENST00000405846	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750:SF8,hmmpanther:PTHR22750,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00650,Prints_domain:PR00644		A		C		775/1981				B4DG25_HUMAN,A8K2F5_HUMAN				GPR12,synonymous_variant,p.=,ENST00000405846,NM_005288.3;GPR12,synonymous_variant,p.=,ENST00000381436,;							LOW	312/1005		GPR12_HUMAN			Transcript			.	ENSP00000370844		CCDS9319.1			1	
ZC3HAV1	0	LGGM	GRCh37	7	138774460	138774460	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	31	10	.	.	ENST00000242351.5:c.354C>A	p.Phe118Leu	p.F118L	ENST00000242351	NM_020119.3	118	ttC/ttA	0	1	1	UPI00001612AE	0	getma.org/pdb.php?prot=ZCCHV_HUMAN&from=1&to=200&var=F118L	ENST00000242351		ENSG00000105939	23721		41	0.895		HGNC	p.F118L		ZC3HAV1		SNV							ENST00000242351	protein_coding	getma.org/?cm=var&var=hg19,7,138774460,G,T&fts=all		hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF49		F/L		T	low	671/7100		getma.org/?cm=msa&ty=f&p=ZCCHV_HUMAN&rb=1&re=200&var=F118L	tolerated(0.23)				YES	ZC3HAV1,missense_variant,p.Phe118Leu,ENST00000242351,NM_020119.3;ZC3HAV1,missense_variant,p.Phe118Leu,ENST00000464606,;ZC3HAV1,missense_variant,p.Phe118Leu,ENST00000471652,NM_024625.3;							MODERATE	354/2709	F118L	ZCCHV_HUMAN			Transcript		benign(0.037)	.	ENSP00000242351		CCDS5851.1			1	
CLEC4F	0	LGGM	GRCh37	2	71043392	71043392	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	46	10	.	.	ENST00000272367.2:c.1121C>A	p.Ala374Asp	p.A374D	ENST00000272367	NM_001258027.1	374	gCc/gAc	0	1	1	UPI0000376BCC	0	NA	ENST00000272367		ENSG00000152672	25357		56	1.32		HGNC	p.A374D		CLEC4F		SNV							ENST00000426626	protein_coding	getma.org/?cm=var&var=hg19,2,71043392,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195		A/D		T	low	1198/2475		getma.org/?cm=msa&ty=f&p=CLC4F_HUMAN&rb=251&re=449&var=A374D	deleterious(0.01)				YES	CLEC4F,missense_variant,p.Ala374Asp,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,missense_variant,p.Ala374Asp,ENST00000426626,;AC007395.4,upstream_gene_variant,,ENST00000451333,;							MODERATE	1121/1770	A374D	CLC4F_HUMAN			Transcript		benign(0.108)	.	ENSP00000272367		CCDS1910.1			1	
AHNAK	0	LGGM	GRCh37	11	62294197	62294197	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	155	10	.	.	ENST00000378024.4:c.7692G>C	p.Gly2564=	p.G2564=	ENST00000378024	NM_001620.2	2564	ggG/ggC	0	1	1	UPI00004EC29C	0		ENST00000378024		ENSG00000124942	347		165			HGNC	p.G2564G		AHNAK		SNV							ENST00000378024	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40,Low_complexity_(Seg):seg		G		G		7967/18787				E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,synonymous_variant,p.=,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;							LOW	7692/17673		AHNK_HUMAN			Transcript			.	ENSP00000367263		CCDS31584.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81667446	81667446	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	51	10	.	.	ENST00000356860.3:c.985G>A	p.Gly329Arg	p.G329R	ENST00000356860	NM_000722.2	329	Gga/Aga	0	1		UPI0001B9E74B	0	NA	ENST00000356253		ENSG00000153956	1399		61	2.445		HGNC	p.G329R		CACNA2D1		SNV			1				ENST00000356860	protein_coding	getma.org/?cm=var&var=hg19,7,81667446,C,T&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300		G/R		T	medium	1241/3858		getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=253&re=425&var=G329R	deleterious(0)	Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,missense_variant,p.Gly329Arg,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Gly329Arg,ENST00000356253,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;							MODERATE	985/3312	G329R	CA2D1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000348589					1	
KRTAP19-5	0	LGGM	GRCh37	21	31874370	31874370	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	144	11	.	.	ENST00000334151.2:c.39C>T	p.Tyr13=	p.Y13=	ENST00000334151	NM_181611.1	13	taC/taT	0	1	1	UPI00001A9E50	0		ENST00000334151		ENSG00000186977	18940	0.000259	155			HGNC	p.Y13Y	rs367860556,COSM3748158	KRTAP19-5	0.000303	SNV	A:0.0002			9.61E-05		0,1	ENST00000334151	protein_coding			Pfam_domain:PF11759,Low_complexity_(Seg):seg		Y	A:0.0009	A		66/461	0.00045						YES	KRTAP19-5,synonymous_variant,p.=,ENST00000334151,NM_181611.1;KRTAP19-4,upstream_gene_variant,,ENST00000334058,NM_181610.1;					0,1		LOW	39/219		KR195_HUMAN	0.000151		Transcript			common_variant	ENSP00000334985	0.000338	CCDS13597.1	0.0011		1	
INTS6	0	LGGM	GRCh37	13	51943090	51943090	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	52	11	.	.	ENST00000311234.4:c.2461C>T	p.Arg821Ter	p.R821*	ENST00000311234	NM_012141.2	821	Cga/Tga	0	1	1	UPI0000030C84	0	NA	ENST00000311234		ENSG00000102786	14879		63	0		HGNC	p.R821X		INTS6		SNV							ENST00000311234	protein_coding	getma.org/?cm=var&var=hg19,13,51943090,G,A&fts=all		hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957,Pfam_domain:PF15300		R/*		A	NA	2934/3662		NA		G5E9X1_HUMAN,C9K0V7_HUMAN,C9JVX2_HUMAN,C9J885_HUMAN,C9J0C6_HUMAN,B3KQH5_HUMAN			YES	INTS6,stop_gained,p.Arg821Ter,ENST00000311234,NM_012141.2;INTS6,stop_gained,p.Arg808Ter,ENST00000398119,NM_001039937.1;INTS6,stop_gained,p.Arg389Ter,ENST00000425000,;INTS6,stop_gained,p.Arg643Ter,ENST00000497989,;INTS6,stop_gained,p.Arg505Ter,ENST00000490542,;INTS6,3_prime_UTR_variant,,ENST00000463928,;SERPINE3,downstream_gene_variant,,ENST00000524365,;SERPINE3,downstream_gene_variant,,ENST00000400389,;INTS6,non_coding_transcript_exon_variant,,ENST00000476666,;INTS6,3_prime_UTR_variant,,ENST00000469430,;INTS6,non_coding_transcript_exon_variant,,ENST00000483441,;							HIGH	2461/2664	R821*	INT6_HUMAN			Transcript			.	ENSP00000310260		CCDS9428.1			1	
NFX1	0	LGGM	GRCh37	9	33294722	33294722	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	96	11	.	.	ENST00000379540.3:c.330G>T	p.Arg110Ser	p.R110S	ENST00000379540	NM_002504.4	110	agG/agT	0	1	1	UPI0000072140	0	NA	ENST00000379540		ENSG00000086102	7803		107	0.805		HGNC	p.R110S		NFX1		SNV							ENST00000379521	protein_coding	getma.org/?cm=var&var=hg19,9,33294722,G,T&fts=all		hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0		R/S		T	low	392/4604		getma.org/?cm=msa&ty=f&p=NFX1_HUMAN&rb=1&re=200&var=R110S	deleterious(0)				YES	NFX1,missense_variant,p.Arg110Ser,ENST00000379540,NM_002504.4;NFX1,missense_variant,p.Arg110Ser,ENST00000379521,NM_147133.2;NFX1,missense_variant,p.Arg110Ser,ENST00000318524,NM_147134.2;							MODERATE	330/3363	R110S	NFX1_HUMAN			Transcript		benign(0.19)	.	ENSP00000368856		CCDS6538.1			1	
SLC36A2	0	LGGM	GRCh37	5	150718655	150718655	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	64	12	.	.	ENST00000335244.4:c.491T>C	p.Val164Ala	p.V164A	ENST00000335244	NM_181776.2	164	gTg/gCg	0	1	1	UPI000020D008	0	NA	ENST00000335244		ENSG00000186335	18762		76	1.675		HGNC	p.V164A		SLC36A2		SNV			1				ENST00000335244	protein_coding	getma.org/?cm=var&var=hg19,5,150718655,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF185,hmmpanther:PTHR22950,Pfam_domain:PF01490		V/A		G	low	621/3421		getma.org/?cm=msa&ty=f&p=S36A2_HUMAN&rb=52&re=463&var=V164A	tolerated(0.07)	E5RGH8_HUMAN			YES	SLC36A2,missense_variant,p.Val164Ala,ENST00000335244,NM_181776.2;SLC36A2,missense_variant,p.Val164Ala,ENST00000521967,;SLC36A2,non_coding_transcript_exon_variant,,ENST00000522829,;SLC36A2,intron_variant,,ENST00000518617,;SLC36A2,intron_variant,,ENST00000518280,;							MODERATE	491/1452	V164A	S36A2_HUMAN			Transcript		benign(0.215)	.	ENSP00000334223		CCDS4315.1			1	
VEGFB	0	LGGM	GRCh37	11	64004664	64004664	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	64	13	.	.	ENST00000309422.2:c.380A>C	p.Lys127Thr	p.K127T	ENST00000309422	NM_003377.4	127	aAa/aCa	0	1	1	UPI0000001047	0	getma.org/pdb.php?prot=VEGFB_HUMAN&from=125&to=150&var=K127T	ENST00000309422		ENSG00000173511	12681		77	2.18		HGNC	p.K127T	COSM1604951	VEGFB		SNV						1	ENST00000426086	protein_coding	getma.org/?cm=var&var=hg19,11,64004664,A,C&fts=all		PROSITE_profiles:PS50278,hmmpanther:PTHR12025:SF4,hmmpanther:PTHR12025,Gene3D:2.10.90.10,Superfamily_domains:SSF57501		K/T		C	medium	676/1374		getma.org/?cm=msa&ty=f&p=VEGFB_HUMAN&rb=95&re=180&var=K127T	deleterious(0)	Q7LAP4_HUMAN			YES	VEGFB,missense_variant,p.Lys127Thr,ENST00000309422,NM_003377.4,NM_001243733.1;VEGFB,missense_variant,p.Lys127Thr,ENST00000426086,;DNAJC4,downstream_gene_variant,,ENST00000321685,NM_005528.3;DNAJC4,downstream_gene_variant,,ENST00000321460,;FKBP2,upstream_gene_variant,,ENST00000394540,NM_057092.2;DNAJC4,downstream_gene_variant,,ENST00000355040,;FKBP2,upstream_gene_variant,,ENST00000309366,NM_004470.3;FKBP2,upstream_gene_variant,,ENST00000535135,;FKBP2,upstream_gene_variant,,ENST00000449942,NM_001135208.1;DNAJC4,downstream_gene_variant,,ENST00000535246,;VEGFB,upstream_gene_variant,,ENST00000541681,;RP11-783K16.14,upstream_gene_variant,,ENST00000534988,;RP11-783K16.14,upstream_gene_variant,,ENST00000539963,;VEGFB,non_coding_transcript_exon_variant,,ENST00000543462,;DNAJC4,downstream_gene_variant,,ENST00000537109,;FKBP2,upstream_gene_variant,,ENST00000541388,;DNAJC4,downstream_gene_variant,,ENST00000540945,;DNAJC4,downstream_gene_variant,,ENST00000536006,;FKBP2,upstream_gene_variant,,ENST00000536642,;DNAJC4,downstream_gene_variant,,ENST00000542376,;DNAJC4,downstream_gene_variant,,ENST00000538961,;DNAJC4,downstream_gene_variant,,ENST00000543791,;DNAJC4,downstream_gene_variant,,ENST00000543685,;					1		MODERATE	380/624	K127T	VEGFB_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000311127		CCDS8062.1			1	
KIAA0753	0	LGGM	GRCh37	17	6493836	6493836	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	41	13	.	.	ENST00000361413.3:c.2555A>T	p.Asn852Ile	p.N852I	ENST00000361413	NM_014804.2	852	aAt/aTt	0	1	1	UPI000013D2BF	0	NA	ENST00000361413		ENSG00000198920	29110		54	1.61		HGNC	p.N308I		KIAA0753		SNV							ENST00000589033	protein_coding	getma.org/?cm=var&var=hg19,17,6493836,T,A&fts=all		hmmpanther:PTHR15732:SF3,hmmpanther:PTHR15732		N/I		A	low	2914/4859		getma.org/?cm=msa&ty=f&p=K0753_HUMAN&rb=764&re=965&var=N852I	deleterious(0)	I3L1P2_HUMAN,I3L0P7_HUMAN,B7Z6L6_HUMAN			YES	KIAA0753,missense_variant,p.Asn852Ile,ENST00000361413,NM_014804.2;KIAA0753,missense_variant,p.Asn553Ile,ENST00000542606,;KIAA0753,missense_variant,p.Asn553Ile,ENST00000572370,;KIAA0753,missense_variant,p.Asn308Ile,ENST00000589033,;KIAA0753,missense_variant,p.Asn48Ile,ENST00000576281,;KIAA0753,non_coding_transcript_exon_variant,,ENST00000575027,;KIAA0753,3_prime_UTR_variant,,ENST00000570790,;KIAA0753,3_prime_UTR_variant,,ENST00000542826,;							MODERATE	2555/2904	N852I	K0753_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000355250		CCDS42247.1			1	
SNX33	0	LGGM	GRCh37	15	75942405	75942405	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	54	14	.	.	ENST00000308527.5:c.962C>G	p.Pro321Arg	p.P321R	ENST00000308527	NM_153271.1	321	cCt/cGt	0	1	1	UPI0000073AC2	0	getma.org/pdb.php?prot=SNX33_HUMAN&from=227&to=336&var=P321R	ENST00000308527		ENSG00000173548	28468		68	3.1		HGNC	p.P321R		SNX33		SNV							ENST00000308527	protein_coding	getma.org/?cm=var&var=hg19,15,75942405,C,G&fts=all		Superfamily_domains:SSF64268,PIRSF_domain:PIRSF027744,SMART_domains:SM00312,Gene3D:3.30.1520.10,Pfam_domain:PF00787,hmmpanther:PTHR10555:SF121,hmmpanther:PTHR10555,PROSITE_profiles:PS50195		P/R		G	medium	2159/8008		getma.org/?cm=msa&ty=f&p=SNX33_HUMAN&rb=227&re=336&var=P321R	deleterious(0)				YES	SNX33,missense_variant,p.Pro321Arg,ENST00000308527,NM_153271.1;SNX33,missense_variant,p.Pro104Arg,ENST00000569152,;IMP3,upstream_gene_variant,,ENST00000314852,;IMP3,upstream_gene_variant,,ENST00000565349,;							MODERATE	962/1725	P321R	SNX33_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000311427		CCDS10283.1			1	
DRD5	0	LGGM	GRCh37	4	9784909	9784909	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	72	14	.	.	ENST00000304374.2:c.1256C>A	p.Thr419Asn	p.T419N	ENST00000304374	NM_000798.4	419	aCc/aAc	0	1	1	UPI000004E905	0	NA	ENST00000304374		ENSG00000169676	3026		86	1.39		HGNC	p.T419N		DRD5		SNV			1				ENST00000304374	protein_coding	getma.org/?cm=var&var=hg19,4,9784909,C,A&fts=all				T/N		A	low	1652/2375		getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=360&re=477&var=T419N	tolerated(0.53)				YES	DRD5,missense_variant,p.Thr419Asn,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;							MODERATE	1256/1434	T419N	DRD5_HUMAN			Transcript		benign(0.003)	.	ENSP00000306129		CCDS3405.1			1	
UQCC1	0	LGGM	GRCh37	20	33934900	33934900	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	112	15	.	.	ENST00000374385.5:c.573+67T>G		*191*	ENST00000374385	NM_018244.4			0	1	1	UPI0000206264	0		ENST00000374385		ENSG00000101019	15891		127			HGNC	p.S214A		UQCC1		SNV							ENST00000397554	protein_coding							C		-/2447				Q3KRB6_HUMAN,B7Z314_HUMAN,B7Z1C6_HUMAN			YES	UQCC1,missense_variant,p.Ser214Ala,ENST00000397554,;UQCC1,intron_variant,,ENST00000374385,NM_018244.4;UQCC1,intron_variant,,ENST00000374384,NM_199487.2;UQCC1,intron_variant,,ENST00000349714,;UQCC1,intron_variant,,ENST00000374380,NM_001184977.1;UQCC1,intron_variant,,ENST00000359226,;UQCC1,intron_variant,,ENST00000374377,;UQCC1,intron_variant,,ENST00000397556,;UQCC1,intron_variant,,ENST00000407996,;UQCC1,intron_variant,,ENST00000540457,;UQCC1,intron_variant,,ENST00000542501,;UQCC1,intron_variant,,ENST00000424405,;UQCC1,intron_variant,,ENST00000438533,;UQCC1,intron_variant,,ENST00000491125,;UQCC1,intron_variant,,ENST00000498651,;UQCC1,3_prime_UTR_variant,,ENST00000491040,;UQCC1,intron_variant,,ENST00000374394,;UQCC1,intron_variant,,ENST00000457259,;UQCC1,intron_variant,,ENST00000453855,;UQCC1,intron_variant,,ENST00000443429,;UQCC1,intron_variant,,ENST00000497717,;UQCC1,downstream_gene_variant,,ENST00000397553,;							MODIFIER	-/900		UQCC1_HUMAN			Transcript			.	ENSP00000363506		CCDS13252.1			1	
FKBP15	0	LGGM	GRCh37	9	115935774	115935774	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	101	16	.	.	ENST00000238256.3:c.2491A>T	p.Arg831Ter	p.R831*	ENST00000238256	NM_015258.1	831	Aga/Tga	0	1	1	UPI000022D996	0	NA	ENST00000238256		ENSG00000119321	23397		117	0		HGNC	p.R831X		FKBP15		SNV							ENST00000238256	protein_coding	getma.org/?cm=var&var=hg19,9,115935774,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF178		R/*		A	NA	2609/4336		NA		B4DZS8_HUMAN			YES	FKBP15,stop_gained,p.Arg856Ter,ENST00000446284,;FKBP15,stop_gained,p.Arg831Ter,ENST00000238256,NM_015258.1;							HIGH	2491/3660	R831*	FKB15_HUMAN			Transcript			.	ENSP00000238256		CCDS48007.1			1	
MYO1D	0	LGGM	GRCh37	17	31048099	31048099	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091908	H091908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	101	17	.	.	ENST00000318217.5:c.1855G>T	p.Val619Leu	p.V619L	ENST00000318217	NM_015194.1	619	Gtg/Ttg	0	1	1	UPI0000186004	0	getma.org/pdb.php?prot=MYO1D_HUMAN&from=11&to=682&var=V619L	ENST00000318217		ENSG00000176658	7598		118	1.19		HGNC	p.V619L		MYO1D		SNV							ENST00000579584	protein_coding	getma.org/?cm=var&var=hg19,17,31048099,C,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540		V/L		A	low	2160/5563		getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=11&re=682&var=V619L	tolerated(0.1)	Q8N618_HUMAN,K7EIG7_HUMAN			YES	MYO1D,missense_variant,p.Val619Leu,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Val531Leu,ENST00000394649,;MYO1D,missense_variant,p.Val619Leu,ENST00000579584,;MYO1D,non_coding_transcript_exon_variant,,ENST00000585094,;MYO1D,downstream_gene_variant,,ENST00000577252,;MYO1D,downstream_gene_variant,,ENST00000580538,;							MODERATE	1855/3021	V619L	MYO1D_HUMAN			Transcript		possibly_damaging(0.788)	.	ENSP00000324527		CCDS32615.1			1	
MYO1D	0	LGGM	GRCh37	17	31048098	31048098	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	100	17	.	.	ENST00000318217.5:c.1856T>G	p.Val619Gly	p.V619G	ENST00000318217	NM_015194.1	619	gTg/gGg	0	1	1	UPI0000186004	0	getma.org/pdb.php?prot=MYO1D_HUMAN&from=11&to=682&var=V619G	ENST00000318217		ENSG00000176658	7598		117	4.165		HGNC	p.V619G		MYO1D		SNV							ENST00000579584	protein_coding	getma.org/?cm=var&var=hg19,17,31048098,A,C&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540		V/G		C	high	2161/5563		getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=11&re=682&var=V619G	deleterious(0)	Q8N618_HUMAN,K7EIG7_HUMAN			YES	MYO1D,missense_variant,p.Val619Gly,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Val531Gly,ENST00000394649,;MYO1D,missense_variant,p.Val619Gly,ENST00000579584,;MYO1D,non_coding_transcript_exon_variant,,ENST00000585094,;MYO1D,downstream_gene_variant,,ENST00000577252,;MYO1D,downstream_gene_variant,,ENST00000580538,;							MODERATE	1856/3021	V619G	MYO1D_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000324527		CCDS32615.1			1	
AGA	0	LGGM	GRCh37	4	178360834	178360834	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H091908	H091908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	61	18	.	.	ENST00000264595.2:c.290T>A	p.Met97Lys	p.M97K	ENST00000264595	NM_001171988.1	97	aTg/aAg	0	1	1	UPI000013D53C	0	getma.org/pdb.php?prot=ASPG_HUMAN&from=8&to=339&var=M97K	ENST00000264595		ENSG00000038002	318		79	2.235		HGNC	p.M97K		AGA		SNV			1				ENST00000264595	protein_coding	getma.org/?cm=var&var=hg19,4,178360834,A,T&fts=all		hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF6,Pfam_domain:PF01112,Superfamily_domains:SSF56235		M/K		T	medium	418/2107		getma.org/?cm=msa&ty=f&p=ASPG_HUMAN&rb=8&re=339&var=M97K	deleterious(0.01)	Q6LD43_HUMAN			YES	AGA,missense_variant,p.Met97Lys,ENST00000264595,NM_001171988.1,NM_000027.3;AGA,upstream_gene_variant,,ENST00000502310,;AGA,upstream_gene_variant,,ENST00000510635,;AGA,non_coding_transcript_exon_variant,,ENST00000506853,;AGA,intron_variant,,ENST00000510955,;AGA,downstream_gene_variant,,ENST00000511231,;							MODERATE	290/1041	M97K	ASPG_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000264595		CCDS3829.1			1	
MTUS2	0	LGGM	GRCh37	13	29600435	29600435	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	124	26	.	.	ENST00000431530.3:c.1630G>A	p.Ala544Thr	p.A544T	ENST00000431530	NM_001033602.2	544	Gca/Aca	0	1	1	UPI0000F734AC	0	NA	ENST00000431530		ENSG00000132938	20595		150	1.265		HGNC	p.A544T		MTUS2		SNV							ENST00000431530	protein_coding	getma.org/?cm=var&var=hg19,13,29600435,G,A&fts=all		hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		A/T		A	low	1688/4747		getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=A534T	tolerated(0.81)	J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,missense_variant,p.Ala544Thr,ENST00000431530,NM_001033602.2;							MODERATE	1630/4140	A534T				Transcript		possibly_damaging(0.801)	.	ENSP00000392057		CCDS45022.1			1	
HACE1	0	LGGM	GRCh37	6	105298824	105298824	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091908	H091908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	135	27	.	.	ENST00000262903.4:c.179C>A	p.Ala60Glu	p.A60E	ENST00000262903	NM_020771.3	60	gCa/gAa	0	1	1	UPI00001602DC	0	getma.org/pdb.php?prot=HACE1_HUMAN&from=34&to=128&var=A60E	ENST00000262903		ENSG00000085382	21033		162	0.68		HGNC	p.A60E		HACE1		SNV			1				ENST00000262903	protein_coding	getma.org/?cm=var&var=hg19,6,105298824,G,T&fts=all		hmmpanther:PTHR11254:SF278,hmmpanther:PTHR11254,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		A/E		T	neutral	456/4576		getma.org/?cm=msa&ty=f&p=HACE1_HUMAN&rb=34&re=128&var=A60E	deleterious(0.01)	E5RFX0_HUMAN,E3W983_HUMAN			YES	HACE1,missense_variant,p.Ala60Glu,ENST00000262903,NM_020771.3;HACE1,missense_variant,p.Ala60Glu,ENST00000369125,;HACE1,missense_variant,p.Ala60Glu,ENST00000519645,;HACE1,missense_variant,p.Ala26Glu,ENST00000524020,;HACE1,missense_variant,p.Ala60Glu,ENST00000416605,;HACE1,3_prime_UTR_variant,,ENST00000521962,;							MODERATE	179/2730	A60E	HACE1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000262903		CCDS5050.1			1	
PRUNE2	0	LGGM	GRCh37	9	79320235	79320235	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	177	43	.	.	ENST00000376718.3:c.6955A>G	p.Met2319Val	p.M2319V	ENST00000376718	NM_015225.2	2319	Atg/Gtg	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		220	1.995		HGNC	p.M1960V		PRUNE2		SNV							ENST00000428286	protein_coding	getma.org/?cm=var&var=hg19,9,79320235,T,C&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		M/V		C	medium	7079/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1192&re=2780&var=M2319V	tolerated(0.24)				YES	PRUNE2,missense_variant,p.Met1960Val,ENST00000428286,;PRUNE2,missense_variant,p.Met2319Val,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Met1641Val,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							MODERATE	6955/9267	M2319V	PRUN2_HUMAN			Transcript		benign(0.022)	.	ENSP00000365908		CCDS47982.1			1	
RARRES2	0	LGGM	GRCh37	7	150037193	150037193	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091908	H091908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091908N.bam, H091908T.bam	Illumina HiSeq	337	47	.	.	ENST00000466675.1:c.275A>G	p.Asn92Ser	p.N92S	ENST00000466675		92	aAt/aGt	0	1		UPI0000136F55	0	NA	ENST00000223271		ENSG00000106538	9868		384	2.095		HGNC	p.N92S	rs759449436	RARRES2	0.000182	SNV							ENST00000467793	protein_coding	getma.org/?cm=var&var=hg19,7,150037193,T,C&fts=all		Gene3D:3.10.450.10,hmmpanther:PTHR15106,hmmpanther:PTHR15106:SF2,Superfamily_domains:SSF54403		N/S		C	medium	392/740		getma.org/?cm=msa&ty=f&p=RARR2_HUMAN&rb=12&re=159&var=N92S	tolerated(0.14)					RARRES2,missense_variant,p.Asn92Ser,ENST00000466675,;RARRES2,missense_variant,p.Asn92Ser,ENST00000223271,NM_002889.3;RARRES2,missense_variant,p.Asn92Ser,ENST00000467793,;RARRES2,missense_variant,p.Asn92Ser,ENST00000482669,;LRRC61,downstream_gene_variant,,ENST00000359623,NM_001142928.1;LRRC61,downstream_gene_variant,,ENST00000323078,NM_023942.2;LRRC61,downstream_gene_variant,,ENST00000493307,;RP4-584D14.7,upstream_gene_variant,,ENST00000563946,;RARRES2,non_coding_transcript_exon_variant,,ENST00000478771,;							MODERATE	275/492	N92S	RARR2_HUMAN			Transcript		benign(0.077)	.	ENSP00000223271	2.47E-05	CCDS5902.1			1	
UBA1	0	LGGM	GRCh37	X	47058210	47058210	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	16	2	.	.	ENST00000335972.6:c.9C>G	p.Ser3Arg	p.S3R	ENST00000335972	NM_003334.3	3	agC/agG	0	1	1	UPI0000137946	0	NA	ENST00000335972		ENSG00000130985	12469		18	1.175		HGNC	p.S54R		UBA1		SNV			1				ENST00000451702	protein_coding	getma.org/?cm=var&var=hg19,X,47058210,C,G&fts=all				S/R		G	low	192/3559		getma.org/?cm=msa&ty=f&p=UBA1_HUMAN&rb=1&re=70&var=S3R	tolerated_low_confidence(0.14)	Q712V1_HUMAN,Q5JRR9_HUMAN,B4DDE4_HUMAN			YES	UBA1,missense_variant,p.Ser3Arg,ENST00000335972,NM_003334.3;UBA1,missense_variant,p.Ser3Arg,ENST00000377351,NM_153280.2;UBA1,missense_variant,p.Ser54Arg,ENST00000451702,;UBA1,missense_variant,p.Ser3Arg,ENST00000412206,;UBA1,missense_variant,p.Ser17Arg,ENST00000442035,;UBA1,missense_variant,p.Ser54Arg,ENST00000457753,;UBA1,missense_variant,p.Ser17Arg,ENST00000427561,;UBA1,upstream_gene_variant,,ENST00000490869,;							MODERATE	Sep-77	S3R	UBA1_HUMAN			Transcript		benign(0.005)	.	ENSP00000338413		CCDS14275.1			1	
CREBBP	0	LGGM	GRCh37	16	3788617	3788617	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	14	7	.	.	ENST00000262367.5:c.4337G>T	p.Arg1446Leu	p.R1446L	ENST00000262367	NM_004380.2	1446	cGc/cTc	0	1	1	UPI0000000620	0	getma.org/pdb.php?prot=CBP_HUMAN&from=1342&to=1648&var=R1446L	ENST00000262367		ENSG00000005339	2348		21	3.765		HGNC	p.R1408L	COSM88738	CREBBP		SNV			1			1	ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3788617,C,A&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Pfam_domain:PF08214		R/L		A	high	5147/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1342&re=1648&var=R1446L		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			YES	CREBBP,missense_variant,p.Arg1446Leu,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Arg1408Leu,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000570939,;CREBBP,downstream_gene_variant,,ENST00000573517,;CREBBP,intron_variant,,ENST00000576720,;CREBBP,intron_variant,,ENST00000574740,;CREBBP,downstream_gene_variant,,ENST00000572569,;CREBBP,upstream_gene_variant,,ENST00000571763,;					1		MODERATE	4337/7329	R1446L	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
DENND4B	0	LGGM	GRCh37	1	153904842	153904842	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	28	3	.	.	ENST00000361217.4:c.3834G>T	p.Ser1278=	p.S1278=	ENST00000361217	NM_014856.2	1278	tcG/tcT	0	1	1	UPI000047EA3E	0		ENST00000361217		ENSG00000198837	29044		31			HGNC	p.S1278S		DENND4B		SNV							ENST00000361217	protein_coding			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF18		S		A		4253/5706							YES	DENND4B,synonymous_variant,p.=,ENST00000361217,NM_014856.2;DENND4B,downstream_gene_variant,,ENST00000368646,;DENND4B,intron_variant,,ENST00000474386,;DENND4B,non_coding_transcript_exon_variant,,ENST00000480340,;DENND4B,non_coding_transcript_exon_variant,,ENST00000492898,;DENND4B,non_coding_transcript_exon_variant,,ENST00000462423,;DENND4B,downstream_gene_variant,,ENST00000531748,;DENND4B,downstream_gene_variant,,ENST00000477746,;							LOW	3834/4491		DEN4B_HUMAN			Transcript			.	ENSP00000354597		CCDS44228.1			1	
CGNL1	0	LGGM	GRCh37	15	57835966	57835966	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	16	3	.	.	ENST00000281282.5:c.3364C>A	p.Leu1122Met	p.L1122M	ENST00000281282	NM_032866.4	1122	Ctg/Atg	0	1	1	UPI000019B4EF	0	NA	ENST00000281282		ENSG00000128849	25931		19	1.52		HGNC	p.L1122M		CGNL1		SNV			1				ENST00000281282	protein_coding	getma.org/?cm=var&var=hg19,15,57835966,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140:SF357,hmmpanther:PTHR13140,Pfam_domain:PF01576		L/M		A	low	3442/7224		getma.org/?cm=msa&ty=f&p=CGNL1_HUMAN&rb=1060&re=1259&var=L1122M	deleterious(0.03)				YES	CGNL1,missense_variant,p.Leu1122Met,ENST00000281282,NM_032866.4,NM_001252335.1;							MODERATE	3364/3909	L1122M	CGNL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000281282		CCDS10161.1			1	
PKLR	0	LGGM	GRCh37	1	155261696	155261696	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	32	3	.	.	ENST00000342741.4:c.1469G>T	p.Arg490Leu	p.R490L	ENST00000342741	NM_000298.5	490	cGg/cTg	0	1	1	UPI0000001292	0	getma.org/pdb.php?prot=KPYR_HUMAN&from=452&to=572&var=R490L	ENST00000342741		ENSG00000143627	9020		35	2.48		HGNC	p.R490L	rs746257586	PKLR		SNV			1				ENST00000342741	protein_coding	getma.org/?cm=var&var=hg19,1,155261696,C,A&fts=all		hmmpanther:PTHR11817,hmmpanther:PTHR11817:SF9,Pfam_domain:PF02887,TIGRFAM_domain:TIGR01064,Gene3D:3.40.1380.20,Superfamily_domains:SSF52935		R/L		A	medium	1508/2083		getma.org/?cm=msa&ty=f&p=KPYR_HUMAN&rb=452&re=572&var=R490L	tolerated(0.07)	Q16715_HUMAN,B4DPM0_HUMAN			YES	PKLR,missense_variant,p.Arg459Leu,ENST00000392414,NM_181871.3;PKLR,missense_variant,p.Arg490Leu,ENST00000342741,NM_000298.5;HCN3,downstream_gene_variant,,ENST00000368358,NM_020897.2;HCN3,downstream_gene_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000467204,;HCN3,downstream_gene_variant,,ENST00000492035,;PKLR,downstream_gene_variant,,ENST00000434082,;	0.000116						MODERATE	1469/1725	R490L	KPYR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339933	8.24E-06	CCDS1109.1			1	
DIAPH3	0	LGGM	GRCh37	13	60667826	60667826	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	46	3	.	.	ENST00000400324.4:c.431G>T	p.Arg144Leu	p.R144L	ENST00000400324	NM_001042517.1	144	cGg/cTg	0	1	1	UPI0000DAC774	0	getma.org/pdb.php?prot=DIAP3_HUMAN&from=113&to=297&var=R144L	ENST00000400324		ENSG00000139734	15480		49	1.91		HGNC	p.R133L		DIAPH3		SNV			1				ENST00000377908	protein_coding	getma.org/?cm=var&var=hg19,13,60667826,C,A&fts=all		Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Superfamily_domains:SSF48371		R/L		A	medium	652/4804		getma.org/?cm=msa&ty=f&p=DIAP3_HUMAN&rb=113&re=297&var=R144L	deleterious(0.04)				YES	DIAPH3,missense_variant,p.Arg144Leu,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Arg144Leu,ENST00000400330,;DIAPH3,missense_variant,p.Arg133Leu,ENST00000377908,;DIAPH3,missense_variant,p.Arg144Leu,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Arg74Leu,ENST00000400319,NM_001258368.1;DIAPH3,intron_variant,,ENST00000400320,NM_001258367.1;							MODERATE	431/3582	R144L	DIAP3_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000383178		CCDS41898.1			1	
ZNF324	0	LGGM	GRCh37	19	58982784	58982784	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	16	3	.	.	ENST00000536459.2:c.925G>T	p.Gly309Cys	p.G309C	ENST00000536459		309	Ggc/Tgc	0	1		UPI000013C359	0	getma.org/pdb.php?prot=Z324A_HUMAN&from=299&to=324&var=G309C	ENST00000196482		ENSG00000083812	14096		19	2.705		HGNC	p.G309C		ZNF324		SNV							ENST00000536459	protein_coding	getma.org/?cm=var&var=hg19,19,58982784,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		G/C		T	medium	1019/3000		getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=279&re=344&var=G309C	deleterious(0)	F5H1K2_HUMAN				ZNF324,missense_variant,p.Gly309Cys,ENST00000536459,;ZNF324,missense_variant,p.Gly309Cys,ENST00000196482,NM_014347.2;ZNF324,missense_variant,p.Gly86Cys,ENST00000535298,;ZNF324,missense_variant,p.Gly168Cys,ENST00000593925,;ZNF446,upstream_gene_variant,,ENST00000596341,;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.2;ZNF446,upstream_gene_variant,,ENST00000600013,;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,;ZNF446,upstream_gene_variant,,ENST00000599913,;ZNF446,upstream_gene_variant,,ENST00000594468,;							MODERATE	925/1662	G309C	Z324A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000196482		CCDS12981.1			1	
HIP1R	0	LGGM	GRCh37	12	123344364	123344364	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	21	3	.	.	ENST00000253083.4:c.2452G>T	p.Glu818Ter	p.E818*	ENST00000253083	NM_003959.1	818	Gag/Tag	0	1	1	UPI000012C72C	0	NA	ENST00000253083		ENSG00000130787	18415		24	0		HGNC	p.E818X		HIP1R		SNV							ENST00000253083	protein_coding	getma.org/?cm=var&var=hg19,12,123344364,G,T&fts=all		PROSITE_profiles:PS50945,hmmpanther:PTHR10407,hmmpanther:PTHR10407:SF10,Gene3D:1r0dB00,SMART_domains:SM00307,Superfamily_domains:SSF109885		E/*		T	NA	2577/4539		NA		B3KN98_HUMAN			YES	HIP1R,stop_gained,p.Glu818Ter,ENST00000253083,NM_003959.1;HIP1R,upstream_gene_variant,,ENST00000535012,;HIP1R,upstream_gene_variant,,ENST00000537322,;HIP1R,non_coding_transcript_exon_variant,,ENST00000536617,;HIP1R,non_coding_transcript_exon_variant,,ENST00000541712,;HIP1R,downstream_gene_variant,,ENST00000535831,;HIP1R,downstream_gene_variant,,ENST00000452196,;HIP1R,downstream_gene_variant,,ENST00000536847,;HIP1R,upstream_gene_variant,,ENST00000538236,;HIP1R,downstream_gene_variant,,ENST00000536772,;							HIGH	2452/3207	E818*	HIP1R_HUMAN			Transcript			.	ENSP00000253083		CCDS31922.1			1	
SHANK2	0	LGGM	GRCh37	11	70333561	70333561	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	33	3	.	.	ENST00000338508.4:c.2840G>T	p.Arg947Met	p.R947M	ENST00000338508		947	aGg/aTg	0	1		UPI000198F7E4	0	NA	ENST00000423696		ENSG00000162105	14295		36	2.165		HGNC	p.R225M		SHANK2		SNV			1				ENST00000424924	protein_coding	getma.org/?cm=var&var=hg19,11,70333561,C,A&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		R/M		A	medium	1737/7884		getma.org/?cm=msa&ty=f&p=SHAN2_HUMAN&rb=448&re=1283&var=R567M	deleterious(0)					SHANK2,missense_variant,p.Arg947Met,ENST00000338508,;SHANK2,missense_variant,p.Arg351Met,ENST00000449833,NM_133266.3;SHANK2,missense_variant,p.Arg567Met,ENST00000423696,;SHANK2,missense_variant,p.Arg350Met,ENST00000409161,;SHANK2,missense_variant,p.Arg225Met,ENST00000424924,;SHANK2,missense_variant,p.Arg570Met,ENST00000294018,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000449116,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000426687,;							MODERATE	1700/4413	R567M	SHAN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000394536					1	
ATG4B	0	LGGM	GRCh37	2	242598811	242598811	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	22	3	.	.	ENST00000404914.3:c.538+209C>A		*180*	ENST00000404914	NM_013325.4			0	1	1	UPI00001AF16F	0		ENST00000404914		ENSG00000168397	20790		25			HGNC	p.G249G		ATG4B		SNV							ENST00000425239	protein_coding							A		-/2878				F8WD71_HUMAN,C9JVD5_HUMAN,C9J3C0_HUMAN,C9J1C1_HUMAN			YES	ATG4B,synonymous_variant,p.=,ENST00000425239,;ATG4B,intron_variant,,ENST00000405546,;ATG4B,intron_variant,,ENST00000404914,NM_013325.4,NM_178326.2;ATG4B,intron_variant,,ENST00000402096,;ATG4B,intron_variant,,ENST00000474739,;ATG4B,intron_variant,,ENST00000396411,;ATG4B,intron_variant,,ENST00000400771,;ATG4B,intron_variant,,ENST00000429899,;ATG4B,downstream_gene_variant,,ENST00000430617,;ATG4B,downstream_gene_variant,,ENST00000419606,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,intron_variant,,ENST00000482507,;ATG4B,intron_variant,,ENST00000494465,;ATG4B,intron_variant,,ENST00000344376,;ATG4B,downstream_gene_variant,,ENST00000475195,;ATG4B,downstream_gene_variant,,ENST00000468018,;ATG4B,downstream_gene_variant,,ENST00000400772,;ATG4B,downstream_gene_variant,,ENST00000465399,;ATG4B,downstream_gene_variant,,ENST00000479554,;							MODIFIER	-/1182		ATG4B_HUMAN			Transcript			.	ENSP00000384259		CCDS46564.1			1	
TSHZ3	0	LGGM	GRCh37	19	31768998	31768998	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	47	3	.	.	ENST00000240587.4:c.1701G>T	p.Ser567=	p.S567=	ENST00000240587	NM_020856.2	567	tcG/tcT	0	1	1	UPI0000202000	0		ENST00000240587		ENSG00000121297	30700		50			HGNC	p.S567S		TSHZ3		SNV							ENST00000240587	protein_coding			hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5		S		A		2029/5176				A1L0U7_HUMAN			YES	TSHZ3,synonymous_variant,p.=,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;							LOW	1701/3246		TSH3_HUMAN			Transcript			.	ENSP00000240587		CCDS12421.2			1	
MAP1B	0	LGGM	GRCh37	5	71492809	71492809	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	45	3	.	.	ENST00000296755.7:c.3627A>G	p.Pro1209=	p.P1209=	ENST00000296755	NM_005909.3	1209	ccA/ccG	0	1	1	UPI000013E382	0		ENST00000296755		ENSG00000131711	6836		48			HGNC	p.P1209P	rs765598900	MAP1B		SNV							ENST00000296755	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		P		G		3925/12034				D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;	0.000463						LOW	3627/7407		MAP1B_HUMAN			Transcript			common_variant	ENSP00000296755	3.29E-05	CCDS4012.1			1	
NLRP7	0	LGGM	GRCh37	19	55451105	55451105	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	22	3	.	.	ENST00000588756.1:c.1082C>A	p.Ser361Ter	p.S361*	ENST00000588756		361	tCg/tAg	0	1		UPI0000046432	0	NA	ENST00000340844		ENSG00000167634	22947		25	0		HGNC	p.S389X		NLRP7		SNV			1				ENST00000446217	protein_coding	getma.org/?cm=var&var=hg19,19,55451105,G,T&fts=all		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87		S/*		T	NA	1158/3250		NA		K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN				NLRP7,stop_gained,p.Ser389Ter,ENST00000446217,;NLRP7,stop_gained,p.Ser361Ter,ENST00000588756,;NLRP7,stop_gained,p.Ser361Ter,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,stop_gained,p.Ser361Ter,ENST00000328092,;NLRP7,stop_gained,p.Ser361Ter,ENST00000592784,;NLRP7,stop_gained,p.Ser361Ter,ENST00000340844,NM_206828.3;NLRP7,stop_gained,p.Ser361Ter,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,stop_gained,p.Ser361Ter,ENST00000586379,;							HIGH	1082/2943	S361*	NALP7_HUMAN			Transcript			.	ENSP00000339491		CCDS33109.1			1	
NR4A2	0	LGGM	GRCh37	2	157186618	157186618	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	24	3	.	.	ENST00000339562.4:c.81G>T	p.Ser27=	p.S27=	ENST00000339562	NM_006186.3	27	tcG/tcT	0	1	1	UPI0000036A18	0		ENST00000339562		ENSG00000153234	7981		27			HGNC	p.S27S		NR4A2		SNV							ENST00000424077	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24085,hmmpanther:PTHR24085:SF0,Prints_domain:PR01287		S		A		444/3472				Q6NXU0_HUMAN,F1D8N6_HUMAN,C9JWQ1_HUMAN,C9IYM5_HUMAN			YES	NR4A2,synonymous_variant,p.=,ENST00000339562,NM_006186.3;NR4A2,synonymous_variant,p.=,ENST00000409572,;NR4A2,synonymous_variant,p.=,ENST00000539077,;NR4A2,synonymous_variant,p.=,ENST00000409108,;NR4A2,synonymous_variant,p.=,ENST00000424077,;NR4A2,synonymous_variant,p.=,ENST00000406048,;NR4A2,intron_variant,,ENST00000426264,;NR4A2,intron_variant,,ENST00000429376,;NR4A2,intron_variant,,ENST00000421709,;NR4A2,intron_variant,,ENST00000417972,;NR4A2,intron_variant,,ENST00000417764,;							LOW	81/1797		NR4A2_HUMAN			Transcript			.	ENSP00000344479		CCDS2201.1			1	
C10orf55	0	LGGM	GRCh37	10	75671691	75671691	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	39	3	.	.	ENST00000409178.1:c.208C>A	p.Arg70Ser	p.R70S	ENST00000409178	NM_001001791.2	70	Cgc/Agc	0	1		UPI0000470217	0	NA	ENST00000412307		ENSG00000222047	31008		42	0		HGNC	p.R70S		C10orf55		SNV							ENST00000409178	protein_coding	getma.org/?cm=var&var=hg19,10,75671691,G,T&fts=all				R/S		T	neutral	405/2360		getma.org/?cm=msa&ty=f&p=CJ055_HUMAN&rb=1&re=151&var=R70S	tolerated_low_confidence(0.27)					C10orf55,missense_variant,p.Arg70Ser,ENST00000409178,NM_001001791.2;C10orf55,missense_variant,p.Arg70Ser,ENST00000412307,;PLAU,splice_region_variant,,ENST00000446342,NM_001145031.1;PLAU,intron_variant,,ENST00000372764,NM_002658.3;PLAU,intron_variant,,ENST00000372762,;PLAU,intron_variant,,ENST00000481390,;PLAU,intron_variant,,ENST00000494287,;PLAU,downstream_gene_variant,,ENST00000496926,;							MODERATE	208/456	R70S	CJ055_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000409225		CCDS53541.1			1	
ABCB4	0	LGGM	GRCh37	7	87056210	87056210	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	34	3	.	.	ENST00000265723.4:c.1920A>C	p.Glu640Asp	p.E640D	ENST00000265723	NM_000443.3	640	gaA/gaC	0	1	1	UPI000013D66B	0	NA	ENST00000265723		ENSG00000005471	45		37	0.755		HGNC	p.E640D		ABCB4		SNV			1				ENST00000265723	protein_coding	getma.org/?cm=var&var=hg19,7,87056210,T,G&fts=all		hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221		E/D		G	neutral	2032/4020		getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=562&re=710&var=E640D	tolerated(0.19)	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN			YES	ABCB4,missense_variant,p.Glu640Asp,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Glu640Asp,ENST00000359206,;ABCB4,missense_variant,p.Glu640Asp,ENST00000545634,;ABCB4,missense_variant,p.Glu640Asp,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Glu640Asp,ENST00000453593,;ABCB4,non_coding_transcript_exon_variant,,ENST00000469770,;							MODERATE	1920/3861	E640D	MDR3_HUMAN			Transcript		benign(0.002)	.	ENSP00000265723		CCDS5606.1			1	
PRR21	0	LGGM	GRCh37	2	240982223	240982225	+	inframe_deletion	In_Frame_Del	DEL	AGG	AGG	-	novel	by Submitter	H091920	H091920N.bam	AGG	AGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	3	3	.	.	ENST00000408934.1:c.175_177del	p.Pro59del	p.P59del	ENST00000408934	NM_001080835.1	59	CCT/-	0	1	1	UPI0000071C18	0		ENST00000408934		ENSG00000221961	33866		6			HGNC	p.59_59del		PRR21		deletion							ENST00000408934	protein_coding					P/-		-		175-177/1170							YES	PRR21,inframe_deletion,p.Pro59del,ENST00000408934,NM_001080835.1;PRR21,inframe_deletion,p.Pro59del,ENST00000486799,;OR6B3,downstream_gene_variant,,ENST00000319423,NM_173351.1;							MODERATE	175-177/1170		PRR21_HUMAN			Transcript			.	ENSP00000386166		CCDS33417.1			1	
GBA2	0	LGGM	GRCh37	9	35737916	35737916	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	35	3	.	.	ENST00000378103.3:c.2334G>T	p.Val778=	p.V778=	ENST00000378103	NM_020944.2	778	gtG/gtT	0	1	1	UPI0000073FD5	0		ENST00000378103		ENSG00000070610	18986		38			HGNC	p.V79V		GBA2		SNV			1				ENST00000378088	protein_coding			Superfamily_domains:SSF48208,PIRSF_domain:PIRSF028944,Pfam_domain:PF04685,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654		V		A		2858/3611							YES	GBA2,synonymous_variant,p.=,ENST00000378094,;GBA2,synonymous_variant,p.=,ENST00000378103,NM_020944.2;GBA2,synonymous_variant,p.=,ENST00000545786,;GBA2,synonymous_variant,p.=,ENST00000378088,;CREB3,downstream_gene_variant,,ENST00000353704,NM_006368.4;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000486797,;GBA2,downstream_gene_variant,,ENST00000485259,;GBA2,downstream_gene_variant,,ENST00000488292,;							LOW	2334/2784		GBA2_HUMAN			Transcript			.	ENSP00000367343		CCDS6589.1			1	
WDFY4	0	LGGM	GRCh37	10	49933953	49933953	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	29	3	.	.	ENST00000325239.5:c.619C>A	p.Gln207Lys	p.Q207K	ENST00000325239	NM_020945.1	207	Cag/Aag	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		32	2.075		HGNC	p.Q207K		WDFY4		SNV							ENST00000360890	protein_coding	getma.org/?cm=var&var=hg19,10,49933953,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		Q/K		A	medium	646/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=201&re=400&var=Q207K	tolerated(0.5)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Gln207Lys,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Gln207Lys,ENST00000413659,;WDFY4,missense_variant,p.Gln207Lys,ENST00000360890,;							MODERATE	619/9555	Q207K	WDFY4_HUMAN			Transcript		benign(0.094)	.	ENSP00000320563		CCDS44385.1			1	
EPN3	0	LGGM	GRCh37	17	48613889	48613889	+	5_prime_UTR_variant	5'UTR	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	29	3	.	.	ENST00000268933.3:c.-29G>T		*10*	ENST00000268933	NM_017957.2			0	1	1	UPI0000073234	0		ENST00000268933		ENSG00000049283	18235		32			HGNC	p.A73A		EPN3		SNV							ENST00000537145	protein_coding							T		551/4071				D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN			YES	EPN3,synonymous_variant,p.=,ENST00000537145,;EPN3,5_prime_UTR_variant,,ENST00000268933,NM_017957.2;EPN3,5_prime_UTR_variant,,ENST00000541226,;EPN3,5_prime_UTR_variant,,ENST00000507467,;EPN3,5_prime_UTR_variant,,ENST00000503246,;EPN3,5_prime_UTR_variant,,ENST00000503690,;EPN3,5_prime_UTR_variant,,ENST00000514874,;EPN3,5_prime_UTR_variant,,ENST00000515126,;EPN3,intron_variant,,ENST00000507709,;RP11-94C24.8,downstream_gene_variant,,ENST00000513017,;EPN3,non_coding_transcript_exon_variant,,ENST00000511414,;EPN3,non_coding_transcript_exon_variant,,ENST00000507998,;EPN3,non_coding_transcript_exon_variant,,ENST00000571402,;EPN3,downstream_gene_variant,,ENST00000515028,;EPN3,downstream_gene_variant,,ENST00000510462,;EPN3,downstream_gene_variant,,ENST00000504857,;EPN3,5_prime_UTR_variant,,ENST00000512379,;EPN3,5_prime_UTR_variant,,ENST00000510045,;EPN3,5_prime_UTR_variant,,ENST00000574464,;EPN3,5_prime_UTR_variant,,ENST00000512291,;RP11-94C24.8,downstream_gene_variant,,ENST00000509260,;							MODIFIER	-/1899		EPN3_HUMAN			Transcript			.	ENSP00000268933		CCDS11570.1			1	
WHSC1	0	LGGM	GRCh37	4	1962817	1962817	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	40	3	.	.	ENST00000382891.5:c.3311C>A	p.Ala1104Glu	p.A1104E	ENST00000382891	NM_133335.3	1104	gCg/gAg	0	1		UPI0000073F57	0	getma.org/pdb.php?prot=NSD2_HUMAN&from=1074&to=1180&var=A1104E	ENST00000382891		ENSG00000109685	12766		43	-0.025		HGNC	p.A452E		WHSC1		SNV			1				ENST00000382888	protein_coding	getma.org/?cm=var&var=hg19,4,1962817,C,A&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199		A/E		A	neutral	3450/7534		getma.org/?cm=msa&ty=f&p=NSD2_HUMAN&rb=1074&re=1180&var=A1104E	tolerated(0.1)	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN				WHSC1,missense_variant,p.Ala1104Glu,ENST00000382895,NM_133330.2;WHSC1,missense_variant,p.Ala1104Glu,ENST00000382892,NM_133331.2;WHSC1,missense_variant,p.Ala1104Glu,ENST00000382891,NM_133335.3;WHSC1,missense_variant,p.Ala1104Glu,ENST00000508803,NM_001042424.2;WHSC1,missense_variant,p.Ala452Glu,ENST00000382888,;WHSC1,downstream_gene_variant,,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,downstream_gene_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000503207,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,downstream_gene_variant,,ENST00000507094,;AL132868.1,upstream_gene_variant,,ENST00000327785,;							MODERATE	3311/4098	A1104E	NSD2_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000372347		CCDS33940.1			1	
FGF3	0	LGGM	GRCh37	11	69625366	69625366	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	20	3	.	.	ENST00000334134.2:c.427G>A	p.Ala143Thr	p.A143T	ENST00000334134	NM_005247.2	143	Gcc/Acc	0	1	1	UPI0000040661	0	getma.org/pdb.php?prot=FGF3_HUMAN&from=44&to=179&var=A143T	ENST00000334134		ENSG00000186895	3681		23	0.075		HGNC	p.A143T		FGF3		SNV			1				ENST00000334134	protein_coding	getma.org/?cm=var&var=hg19,11,69625366,C,T&fts=all		hmmpanther:PTHR11486:SF26,hmmpanther:PTHR11486,Pfam_domain:PF00167,Gene3D:2.80.10.50,SMART_domains:SM00442,Superfamily_domains:SSF50353		A/T		T	neutral	518/892		getma.org/?cm=msa&ty=f&p=FGF3_HUMAN&rb=44&re=179&var=A143T	tolerated(0.33)				YES	FGF3,missense_variant,p.Ala143Thr,ENST00000334134,NM_005247.2;							MODERATE	427/720	A143T	FGF3_HUMAN			Transcript		benign(0.05)	.	ENSP00000334122		CCDS8195.1			1	
NRXN1	0	LGGM	GRCh37	2	50573946	50573946	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	12	3	.	.	ENST00000404971.1:c.3485-109838G>T		*1162*	ENST00000404971	NM_001135659.1			0	1		UPI0000130A9D	0	NA	ENST00000406316		ENSG00000179915	8008		15	0.55		HGNC	p.A48S		NRXN1		SNV			1				ENST00000342183	protein_coding	getma.org/?cm=var&var=hg19,2,50573946,C,A&fts=all						A	neutral	-/7505		getma.org/?cm=msa&ty=f&p=NRX1B_HUMAN&rb=1&re=120&var=A48S		Q08AH0_HUMAN				NRXN1,missense_variant,p.Ala48Ser,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,;							MODIFIER	-/4434	A48S	NRX1A_HUMAN			Transcript			.	ENSP00000384311		CCDS54360.1			1	
PIK3R2	0	LGGM	GRCh37	19	18279904	18279904	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	18	3	.	.	ENST00000222254.8:c.1987G>T	p.Gly663Cys	p.G663C	ENST00000222254	NM_005027.3	663	Ggc/Tgc	0	1	1	UPI000006EF95	0	getma.org/pdb.php?prot=P85B_HUMAN&from=622&to=696&var=G663C	ENST00000222254		ENSG00000105647	8980		21	3.73		HGNC	p.G663C		PIK3R2		SNV			1				ENST00000222254	protein_coding	getma.org/?cm=var&var=hg19,19,18279904,G,T&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,Prints_domain:PR00678,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF1,SMART_domains:SM00252,Superfamily_domains:SSF55550		G/C		T	high	2587/4033		getma.org/?cm=msa&ty=f&p=P85B_HUMAN&rb=622&re=696&var=G663C	deleterious(0)	Q96CK7_HUMAN,M0QYU3_HUMAN			YES	PIK3R2,missense_variant,p.Gly663Cys,ENST00000222254,NM_005027.3;IFI30,upstream_gene_variant,,ENST00000407280,NM_006332.4;IFI30,upstream_gene_variant,,ENST00000597802,;PIK3R2,missense_variant,p.Gly663Cys,ENST00000593731,;PIK3R2,3_prime_UTR_variant,,ENST00000426902,;PIK3R2,3_prime_UTR_variant,,ENST00000464016,;PIK3R2,non_coding_transcript_exon_variant,,ENST00000459743,;							MODERATE	1987/2187	G663C	P85B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000222254		CCDS12371.1			1	
LAMA1	0	LGGM	GRCh37	18	6955442	6955442	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	19	3	.	.	ENST00000389658.3:c.8117C>A	p.Ala2706Asp	p.A2706D	ENST00000389658	NM_005559.3	2706	gCt/gAt	0	1	1	UPI00001C1FF9	0	getma.org/pdb.php?prot=LAMA1_HUMAN&from=2659&to=2742&var=A2706D	ENST00000389658		ENSG00000101680	6481		22	1.67		HGNC	p.A2706D		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,6955442,G,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38		A/D		T	low	8211/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=2659&re=2742&var=A2706D	tolerated(0.45)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Ala2706Asp,ENST00000389658,NM_005559.3;RP11-781P6.1,non_coding_transcript_exon_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488089,;LAMA1,non_coding_transcript_exon_variant,,ENST00000488064,;LAMA1,non_coding_transcript_exon_variant,,ENST00000492048,;							MODERATE	8117/9228	A2706D	LAMA1_HUMAN			Transcript		benign(0.004)	.	ENSP00000374309		CCDS32787.1			1	
TNFAIP2	0	LGGM	GRCh37	14	103596368	103596368	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	9	3	.	.	ENST00000560869.1:c.1005T>C	p.Ala335=	p.A335=	ENST00000560869		335	gcT/gcC	0	1		UPI0000164A41	0		ENST00000333007		ENSG00000185215	11895		12			HGNC	p.S89P		TNFAIP2		SNV							ENST00000560562	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF4,Pfam_domain:PF06046		A		C		1136/4175				H0YL88_HUMAN,E7EWH2_HUMAN,B7ZB31_HUMAN				TNFAIP2,synonymous_variant,p.=,ENST00000560869,;TNFAIP2,synonymous_variant,p.=,ENST00000333007,NM_006291.2;TNFAIP2,synonymous_variant,p.=,ENST00000560670,;TNFAIP2,synonymous_variant,p.=,ENST00000451723,;TNFAIP2,upstream_gene_variant,,ENST00000559255,;TNFAIP2,upstream_gene_variant,,ENST00000538222,;TNFAIP2,downstream_gene_variant,,ENST00000558056,;TNFAIP2,non_coding_transcript_exon_variant,,ENST00000559195,;TNFAIP2,missense_variant,p.Ser89Pro,ENST00000560562,;TNFAIP2,3_prime_UTR_variant,,ENST00000559406,;TNFAIP2,non_coding_transcript_exon_variant,,ENST00000560428,;TNFAIP2,upstream_gene_variant,,ENST00000561156,;							LOW	1005/1965		TNAP2_HUMAN			Transcript			.	ENSP00000332326		CCDS9979.1			1	
KAT6A	0	LGGM	GRCh37	8	41790910	41790910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	18	3	.	.	ENST00000396930.3:c.4828G>T	p.Ala1610Ser	p.A1610S	ENST00000396930	NM_001099412.1	1610	Gcc/Tcc	0	1		UPI000013D666	0	NA	ENST00000265713		ENSG00000083168	13013		21	0.55		HGNC	p.A1610S		KAT6A		SNV			1				ENST00000406337	protein_coding	getma.org/?cm=var&var=hg19,8,41790910,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615		A/S		A	neutral	5240/9153		getma.org/?cm=msa&ty=f&p=KAT6A_HUMAN&rb=1601&re=1800&var=A1610S		A5PKX7_HUMAN				KAT6A,missense_variant,p.Ala1610Ser,ENST00000396930,NM_001099412.1;KAT6A,missense_variant,p.Ala1610Ser,ENST00000406337,NM_001099413.1;KAT6A,missense_variant,p.Ala1610Ser,ENST00000265713,NM_006766.3;KAT6A,downstream_gene_variant,,ENST00000418721,;							MODERATE	4828/6015	A1610S	KAT6A_HUMAN			Transcript		unknown(0)	.	ENSP00000265713		CCDS6124.1			1	
PTGFRN	0	LGGM	GRCh37	1	117491894	117491894	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	36	3	.	.	ENST00000393203.2:c.913C>A	p.Arg305=	p.R305=	ENST00000393203	NM_020440.2	305	Cga/Aga	0	1	1	UPI000012ABC4	0		ENST00000393203		ENSG00000134247	9601		39			HGNC	p.R305R	rs758581583	PTGFRN		SNV							ENST00000393203	protein_coding			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		R		A		1060/6178	3.11E-05			Q9H3U3_HUMAN			YES	PTGFRN,synonymous_variant,p.=,ENST00000393203,NM_020440.2;							LOW	913/2640		FPRP_HUMAN			Transcript			.	ENSP00000376899	1.65E-05	CCDS890.1			1	
SERINC4	0	LGGM	GRCh37	15	44087285	44087285	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	22	3	.	.	ENST00000319327.6:c.1470G>T	p.Trp490Cys	p.W490C	ENST00000319327	NM_001258031.1	490	tgG/tgT	0	1	1	UPI000066D938	0	NA	ENST00000319327		ENSG00000184716	32237		25	-0.1		HGNC	p.W246C		SERINC4		SNV							ENST00000249714	protein_coding	getma.org/?cm=var&var=hg19,15,44087285,C,A&fts=all		Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF5		W/C		A	neutral	1705/2630		getma.org/?cm=msa&ty=f&p=SERC4_HUMAN&rb=35&re=494&var=W490C	tolerated(0.62)				YES	SERINC4,missense_variant,p.Trp490Cys,ENST00000319327,NM_001258031.1;SERINC4,missense_variant,p.Gly416Val,ENST00000299969,;SERINC4,missense_variant,p.Trp246Cys,ENST00000249714,NM_001258032.1;SERF2,intron_variant,,ENST00000409291,;SERF2,intron_variant,,ENST00000594896,;SERF2,intron_variant,,ENST00000409646,;SERF2,intron_variant,,ENST00000430901,;HYPK,upstream_gene_variant,,ENST00000406925,;SERF2,downstream_gene_variant,,ENST00000381359,NM_001199877.1;SERF2,downstream_gene_variant,,ENST00000249786,;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,;SERINC4,3_prime_UTR_variant,,ENST00000457418,;SERINC4,3_prime_UTR_variant,,ENST00000448553,;SERF2,3_prime_UTR_variant,,ENST00000445816,;SERINC4,3_prime_UTR_variant,,ENST00000412697,;SERF2,intron_variant,,ENST00000448830,;RP11-296A16.1,intron_variant,,ENST00000417761,;SERF2,intron_variant,,ENST00000409617,;SERF2,downstream_gene_variant,,ENST00000486144,;SERINC4,downstream_gene_variant,,ENST00000476490,;SERF2,downstream_gene_variant,,ENST00000475927,;							MODERATE	1470/1557	W490C	SERC4_HUMAN			Transcript		benign(0.007)	.	ENSP00000319796		CCDS58360.1			1	
PRDM7	0	LGGM	GRCh37	16	90128424	90128424	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	43	3	.	.	ENST00000449207.2:c.787G>T	p.Glu263Ter	p.E263*	ENST00000449207	NM_001098173.1	263	Gag/Tag	0	1	1	UPI00015294E9	0	NA	ENST00000449207		ENSG00000126856	9351		46	0		HGNC	p.E263X		PRDM7		SNV							ENST00000449207	protein_coding	getma.org/?cm=var&var=hg19,16,90128424,C,A&fts=all		Gene3D:2.170.270.10,PROSITE_profiles:PS50280,hmmpanther:PTHR16515,hmmpanther:PTHR16515:SF9		E/*		A	NA	807/2008		NA					YES	PRDM7,stop_gained,p.Glu57Ter,ENST00000407825,;PRDM7,stop_gained,p.Glu57Ter,ENST00000325921,NM_052996.2;PRDM7,stop_gained,p.Glu263Ter,ENST00000449207,NM_001098173.1;PRDM7,3_prime_UTR_variant,,ENST00000564210,;PRDM7,3_prime_UTR_variant,,ENST00000568473,;							HIGH	787/1479	E263*	PRDM7_HUMAN			Transcript			.	ENSP00000396732		CCDS45557.1			1	
RASL11A	0	LGGM	GRCh37	13	27847365	27847365	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	26	3	.	.	ENST00000241463.4:c.463C>A	p.Arg155=	p.R155=	ENST00000241463	NM_206827.1	155	Cgg/Agg	0	1	1	UPI000013CAD1	0		ENST00000241463		ENSG00000122035	23802		29			HGNC	p.R155R	rs767537468	RASL11A		SNV							ENST00000241463	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R		A		1081/1543	3.00E-05						YES	RASL11A,synonymous_variant,p.=,ENST00000241463,NM_206827.1;RASL11A,non_coding_transcript_exon_variant,,ENST00000480803,;RASL11A,non_coding_transcript_exon_variant,,ENST00000475647,;							LOW	463/729		RSLBA_HUMAN			Transcript			.	ENSP00000241463	1.65E-05	CCDS9321.1			1	
HAND2	0	LGGM	GRCh37	4	174448462	174448462	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	33	3	.	.	ENST00000359562.4:c.620C>A	p.Pro207Gln	p.P207Q	ENST00000359562	NM_021973.2	207	cCg/cAg	0	1	1	UPI0000003FE8	0	NA	ENST00000359562		ENSG00000164107	4808		36	2.375		HGNC	p.P207Q		HAND2		SNV							ENST00000359562	protein_coding	getma.org/?cm=var&var=hg19,4,174448462,G,T&fts=all		hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF41		P/Q		T	medium	1560/2780		getma.org/?cm=msa&ty=f&p=HAND2_HUMAN&rb=153&re=217&var=P207Q	deleterious(0)	Q3T1D5_HUMAN,B3KV85_HUMAN			YES	HAND2,missense_variant,p.Pro207Gln,ENST00000359562,NM_021973.2;HAND2-AS1,non_coding_transcript_exon_variant,,ENST00000512099,;HAND2-AS1,upstream_gene_variant,,ENST00000502896,;HAND2-AS1,upstream_gene_variant,,ENST00000507062,;HAND2-AS1,upstream_gene_variant,,ENST00000510339,;HAND2-AS1,upstream_gene_variant,,ENST00000515350,;HAND2-AS1,upstream_gene_variant,,ENST00000507571,;HAND2-AS1,upstream_gene_variant,,ENST00000508534,;HAND2-AS1,upstream_gene_variant,,ENST00000503198,;HAND2-AS1,upstream_gene_variant,,ENST00000503474,;HAND2-AS1,upstream_gene_variant,,ENST00000502334,;HAND2-AS1,upstream_gene_variant,,ENST00000514673,;HAND2-AS1,upstream_gene_variant,,ENST00000508887,;HAND2-AS1,upstream_gene_variant,,ENST00000515376,;HAND2-AS1,upstream_gene_variant,,ENST00000514431,;HAND2-AS1,upstream_gene_variant,,ENST00000512246,;HAND2-AS1,upstream_gene_variant,,ENST00000505621,;HAND2-AS1,upstream_gene_variant,,ENST00000507322,;HAND2-AS1,upstream_gene_variant,,ENST00000504740,;HAND2-AS1,upstream_gene_variant,,ENST00000515741,;HAND2-AS1,upstream_gene_variant,,ENST00000515345,;HAND2-AS1,upstream_gene_variant,,ENST00000504429,;HAND2-AS1,upstream_gene_variant,,ENST00000509640,;HAND2-AS1,upstream_gene_variant,,ENST00000509866,;HAND2-AS1,upstream_gene_variant,,ENST00000510268,;HAND2-AS1,upstream_gene_variant,,ENST00000515310,;HAND2-AS1,upstream_gene_variant,,ENST00000511728,;HAND2-AS1,upstream_gene_variant,,ENST00000512929,;HAND2-AS1,upstream_gene_variant,,ENST00000507636,;HAND2-AS1,upstream_gene_variant,,ENST00000510221,;HAND2-AS1,upstream_gene_variant,,ENST00000511196,;HAND2-AS1,upstream_gene_variant,,ENST00000512209,;HAND2-AS1,upstream_gene_variant,,ENST00000512943,;HAND2-AS1,upstream_gene_variant,,ENST00000505032,;HAND2-AS1,upstream_gene_variant,,ENST00000503309,;HAND2-AS1,upstream_gene_variant,,ENST00000505817,;HAND2-AS1,upstream_gene_variant,,ENST00000502941,;HAND2,downstream_gene_variant,,ENST00000505300,;HAND2,missense_variant,p.Pro82Gln,ENST00000503024,;							MODERATE	620/654	P207Q	HAND2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000352565		CCDS3819.1			1	
INADL	0	LGGM	GRCh37	1	62593709	62593709	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	31	3	.	.	ENST00000371158.2:c.5109C>A	p.Pro1703=	p.P1703=	ENST00000371158	NM_176877.2	1703	ccC/ccA	0	1	1	UPI0000204487	0		ENST00000371158		ENSG00000132849	28881		34			HGNC	p.P1703P		INADL		SNV							ENST00000371158	protein_coding			Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,SMART_domains:SM00228,Superfamily_domains:SSF50156		P		A		5223/8505							YES	INADL,synonymous_variant,p.=,ENST00000371158,NM_176877.2;INADL,non_coding_transcript_exon_variant,,ENST00000472512,;INADL,3_prime_UTR_variant,,ENST00000484937,;							LOW	5109/5406		INADL_HUMAN			Transcript			.	ENSP00000360200		CCDS617.2			1	
TCF20	0	LGGM	GRCh37	22	42608109	42608109	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	39	3	.	.	ENST00000359486.3:c.3203G>T	p.Arg1068Leu	p.R1068L	ENST00000359486	NM_005650.2	1068	cGg/cTg	0	1	1	UPI00001A95D9	0	NA	ENST00000359486		ENSG00000100207	11631		42	0.695		HGNC	p.R1068L		TCF20		SNV							ENST00000359486	protein_coding	getma.org/?cm=var&var=hg19,22,42608109,C,A&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7		R/L		A	neutral	3340/7410		getma.org/?cm=msa&ty=f&p=TCF20_HUMAN&rb=490&re=1239&var=R1068L		I3L1M7_HUMAN			YES	TCF20,missense_variant,p.Arg1068Leu,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Arg1068Leu,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							MODERATE	3203/5883	R1068L	TCF20_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000352463		CCDS14033.1			1	
CEP135	0	LGGM	GRCh37	4	56846308	56846308	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	45	4	.	.	ENST00000257287.4:c.1474-1G>A		p.X492_splice	ENST00000257287	NM_025009.4			0	1	1	UPI00003CE420	0		ENST00000257287		ENSG00000174799	29086		49			HGNC	-		CEP135		SNV			1				ENST00000257287	protein_coding							A		-/5562							YES	CEP135,splice_acceptor_variant,,ENST00000257287,NM_025009.4;CEP135,splice_acceptor_variant,,ENST00000506202,;							HIGH	1474/3423		CP135_HUMAN			Transcript			.	ENSP00000257287		CCDS33986.1			1	
CYB561D1	0	LGGM	GRCh37	1	110038809	110038809	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	51	4	.	.	ENST00000369868.3:c.684C>A	p.Pro228=	p.P228=	ENST00000369868	NM_001134400.1	228	ccC/ccA	0	1		UPI000006D4C5	0		ENST00000420578		ENSG00000174151	26804		55			HGNC	p.P206P		CYB561D1		SNV							ENST00000528785	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50939,hmmpanther:PTHR15422:SF9,hmmpanther:PTHR15422		P		A		658/3326				B4E0W0_HUMAN,B4DR38_HUMAN				CYB561D1,synonymous_variant,p.=,ENST00000420578,;CYB561D1,synonymous_variant,p.=,ENST00000528785,;CYB561D1,synonymous_variant,p.=,ENST00000369868,NM_001134400.1;CYB561D1,synonymous_variant,p.=,ENST00000393709,NM_001134402.1;CYB561D1,3_prime_UTR_variant,,ENST00000430195,;CYB561D1,3_prime_UTR_variant,,ENST00000310611,NM_001134403.1,NM_001134404.1;CYB561D1,3_prime_UTR_variant,,ENST00000496961,NM_182580.2;CYB561D1,3_prime_UTR_variant,,ENST00000533024,;CYB561D1,3_prime_UTR_variant,,ENST00000527072,;ATXN7L2,downstream_gene_variant,,ENST00000369870,NM_153340.4;ATXN7L2,downstream_gene_variant,,ENST00000459635,;ATXN7L2,downstream_gene_variant,,ENST00000497545,;ATXN7L2,downstream_gene_variant,,ENST00000463678,;ATXN7L2,downstream_gene_variant,,ENST00000369869,;							LOW	618/690		C56D1_HUMAN			Transcript			.	ENSP00000413530		CCDS800.1			1	
INTS4	0	LGGM	GRCh37	11	77602868	77602868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	55	4	.	.	ENST00000534064.1:c.2307G>T	p.Leu769Phe	p.L769F	ENST00000534064	NM_033547.3	769	ttG/ttT	0	1	1	UPI00001FB00A	0	NA	ENST00000534064		ENSG00000149262	25048		59	0.69		HGNC	p.L769F		INTS4		SNV							ENST00000534064	protein_coding	getma.org/?cm=var&var=hg19,11,77602868,C,A&fts=all		hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0		L/F		A	neutral	2342/3156		getma.org/?cm=msa&ty=f&p=INT4_HUMAN&rb=727&re=926&var=L769F	tolerated(0.42)				YES	INTS4,missense_variant,p.Leu769Phe,ENST00000534064,NM_033547.3;INTS4,missense_variant,p.Leu144Phe,ENST00000535943,;AAMDC,intron_variant,,ENST00000527134,;AAMDC,intron_variant,,ENST00000532481,;AAMDC,intron_variant,,ENST00000304716,;INTS4,3_prime_UTR_variant,,ENST00000433818,;AAMDC,intron_variant,,ENST00000526164,;AAMDC,intron_variant,,ENST00000529666,;							MODERATE	2307/2892	L769F	INT4_HUMAN			Transcript		benign(0.298)	.	ENSP00000434466		CCDS31644.1			1	
HDAC1	0	LGGM	GRCh37	1	32796245	32796245	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	43	4	.	.	ENST00000373548.3:c.796C>A	p.Leu266Ile	p.L266I	ENST00000373548	NM_004964.2	266	Cta/Ata	0	1	1	UPI0000035528	0	getma.org/pdb.php?prot=HDAC1_HUMAN&from=17&to=320&var=L266I	ENST00000373548		ENSG00000116478	4852		47	3.535		HGNC	p.L73I		HDAC1		SNV							ENST00000373541	protein_coding	getma.org/?cm=var&var=hg19,1,32796245,C,A&fts=all		hmmpanther:PTHR10625:SF113,hmmpanther:PTHR10625,Pfam_domain:PF00850,Gene3D:3.40.800.20,PIRSF_domain:PIRSF037913,Superfamily_domains:SSF52768		L/I		A	high	880/2124		getma.org/?cm=msa&ty=f&p=HDAC1_HUMAN&rb=17&re=320&var=L266I	deleterious(0)	Q6IT96_HUMAN,F5GXM1_HUMAN			YES	HDAC1,missense_variant,p.Leu266Ile,ENST00000373548,NM_004964.2;HDAC1,missense_variant,p.Leu73Ile,ENST00000373541,;MARCKSL1,downstream_gene_variant,,ENST00000329421,NM_023009.6;HDAC1,downstream_gene_variant,,ENST00000428704,;HDAC1,non_coding_transcript_exon_variant,,ENST00000490081,;HDAC1,non_coding_transcript_exon_variant,,ENST00000482310,;HDAC1,downstream_gene_variant,,ENST00000463172,;HDAC1,downstream_gene_variant,,ENST00000481281,;HDAC1,downstream_gene_variant,,ENST00000472928,;HDAC1,non_coding_transcript_exon_variant,,ENST00000476391,;HDAC1,intron_variant,,ENST00000484305,;HDAC1,upstream_gene_variant,,ENST00000471488,;							MODERATE	796/1449	L266I	HDAC1_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000362649		CCDS360.1			1	
ZNF462	0	LGGM	GRCh37	9	109691431	109691431	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	29	4	.	.	ENST00000277225.5:c.5238A>T	p.Pro1746=	p.P1746=	ENST00000277225		1746	ccA/ccT	0	1	1	UPI0000470106	0		ENST00000277225		ENSG00000148143	21684		33			HGNC	p.P1746P		ZNF462		SNV							ENST00000277225	protein_coding			hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385		P		T		5527/10414				U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,synonymous_variant,p.=,ENST00000277225,;ZNF462,synonymous_variant,p.=,ENST00000457913,NM_021224.4;ZNF462,synonymous_variant,p.=,ENST00000374686,;ZNF462,synonymous_variant,p.=,ENST00000441147,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000542028,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;							LOW	5238/7521		ZN462_HUMAN			Transcript			.	ENSP00000277225		CCDS35096.1			1	
SERGEF	0	LGGM	GRCh37	11	17809742	17809742	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	85	4	.	.	ENST00000265965.5:c.1267G>T	p.Glu423Ter	p.E423*	ENST00000265965	NM_012139.2	423	Gag/Tag	0	1	1	UPI000007326C	0	NA	ENST00000265965		ENSG00000129158	17499		89	0		HGNC	p.E423X		SERGEF		SNV							ENST00000265965	protein_coding	getma.org/?cm=var&var=hg19,11,17809742,C,A&fts=all		hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF7		E/*		A	NA	1419/1566		NA		E9PS70_HUMAN,E9PR50_HUMAN			YES	SERGEF,stop_gained,p.Glu423Ter,ENST00000265965,NM_012139.2;SERGEF,stop_gained,p.Glu287Ter,ENST00000529151,;SERGEF,3_prime_UTR_variant,,ENST00000528200,;SERGEF,downstream_gene_variant,,ENST00000525920,;SERGEF,non_coding_transcript_exon_variant,,ENST00000528369,;SERGEF,non_coding_transcript_exon_variant,,ENST00000524589,;SERGEF,non_coding_transcript_exon_variant,,ENST00000531299,;SERGEF,non_coding_transcript_exon_variant,,ENST00000529440,;SERGEF,non_coding_transcript_exon_variant,,ENST00000531926,;SERGEF,3_prime_UTR_variant,,ENST00000525422,;SERGEF,3_prime_UTR_variant,,ENST00000527494,;SERGEF,downstream_gene_variant,,ENST00000532546,;							HIGH	1267/1377	E423*	SRGEF_HUMAN			Transcript			.	ENSP00000265965		CCDS7828.1			1	
GABPB2	0	LGGM	GRCh37	1	151079544	151079544	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	49	4	.	.	ENST00000368918.3:c.768C>A	p.Ser256=	p.S256=	ENST00000368918	NM_144618.2	256	tcC/tcA	0	1	1	UPI000004C094	0		ENST00000368918		ENSG00000143458	28441		53			HGNC	p.S256S		GABPB2		SNV							ENST00000368918	protein_coding			hmmpanther:PTHR24193,hmmpanther:PTHR24193:SF72		S		A		1099/8964							YES	GABPB2,synonymous_variant,p.=,ENST00000368918,NM_144618.2;GABPB2,synonymous_variant,p.=,ENST00000368917,;GABPB2,synonymous_variant,p.=,ENST00000368916,;GABPB2,non_coding_transcript_exon_variant,,ENST00000467551,;GABPB2,non_coding_transcript_exon_variant,,ENST00000489549,;RP11-68I18.2,downstream_gene_variant,,ENST00000456396,;							LOW	768/1347		GABP2_HUMAN			Transcript			.	ENSP00000357914		CCDS983.1			1	
C5orf42	0	LGGM	GRCh37	5	37195960	37195960	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	62	4	.	.	ENST00000425232.2:c.3811G>T	p.Gly1271Cys	p.G1271C	ENST00000425232	NM_023073.3	1271	Ggt/Tgt	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		66	0.695		HGNC	p.G152C		C5orf42		SNV			1				ENST00000274258	protein_coding	getma.org/?cm=var&var=hg19,5,37195960,C,A&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		G/C		A	neutral	4042/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=1&re=689&var=G152C	deleterious(0)				YES	C5orf42,missense_variant,p.Gly152Cys,ENST00000274258,;C5orf42,missense_variant,p.Gly1271Cys,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Gly1271Cys,ENST00000508244,;C5orf42,missense_variant,p.Gly319Cys,ENST00000514429,;C5orf42,missense_variant,p.Gly276Cys,ENST00000509849,;							MODERATE	3811/9594	G152C	CE042_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000389014		CCDS34146.2			1	
TBX10	0	LGGM	GRCh37	11	67402518	67402518	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	21	4	.	.	ENST00000335385.3:c.224G>T	p.Trp75Leu	p.W75L	ENST00000335385	NM_005995.4	75	tGg/tTg	0	1	1	UPI000017DA69	0	getma.org/pdb.php?prot=TBX10_HUMAN&from=66&to=253&var=W75L	ENST00000335385		ENSG00000167800	11593		25	4.295		HGNC	p.W75L		TBX10		SNV							ENST00000335385	protein_coding	getma.org/?cm=var&var=hg19,11,67402518,C,A&fts=all		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,PROSITE_patterns:PS01283,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417		W/L		A	high	312/1548		getma.org/?cm=msa&ty=f&p=TBX10_HUMAN&rb=66&re=253&var=W75L	deleterious(0.01)				YES	TBX10,missense_variant,p.Trp75Leu,ENST00000335385,NM_005995.4;							MODERATE	224/1158	W75L	TBX10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335191		CCDS31621.1			1	
NPR3	0	LGGM	GRCh37	5	32724820	32724820	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	65	4	.	.	ENST00000265074.8:c.786G>T	p.Ala262=	p.A262=	ENST00000265074	NM_001204375.1	262	gcG/gcT	0	1	1	UPI0000125B46	0		ENST00000265074		ENSG00000113389	7945		69			HGNC	p.A262A		NPR3		SNV							ENST00000265074	protein_coding			Prints_domain:PR00255,Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF2		A		T		1129/7337							YES	NPR3,synonymous_variant,p.=,ENST00000265074,NM_001204375.1,NM_000908.3;NPR3,synonymous_variant,p.=,ENST00000434067,;NPR3,synonymous_variant,p.=,ENST00000415167,;NPR3,synonymous_variant,p.=,ENST00000415685,NM_001204376.1;NPR3,synonymous_variant,p.=,ENST00000509104,;NPR3,non_coding_transcript_exon_variant,,ENST00000506712,;							LOW	786/1626		ANPRC_HUMAN			Transcript			.	ENSP00000265074		CCDS56357.1			1	
LEPR	0	LGGM	GRCh37	1	66102514	66102514	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	44	4	.	.	ENST00000349533.6:c.3314C>A	p.Pro1105Gln	p.P1105Q	ENST00000349533	NM_002303.5	1105	cCa/cAa	0	1	1	UPI000014C37B	0	NA	ENST00000349533		ENSG00000116678	6554		48	1.52		HGNC	p.P172Q		LEPR		SNV			1				ENST00000406510	protein_coding	getma.org/?cm=var&var=hg19,1,66102514,C,A&fts=all		hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF11		P/Q		A	low	3499/8227		getma.org/?cm=msa&ty=f&p=LEPR_HUMAN&rb=1023&re=1165&var=P1105Q	tolerated(0.53)	L0I9J6_HUMAN,A2RRQ4_HUMAN			YES	LEPR,missense_variant,p.Pro1105Gln,ENST00000349533,NM_002303.5;LEPR,missense_variant,p.Pro172Gln,ENST00000406510,;LEPR,downstream_gene_variant,,ENST00000371060,NM_001198689.1,NM_001003679.3;							MODERATE	3314/3498	P1105Q	LEPR_HUMAN			Transcript		benign(0.057)	.	ENSP00000330393		CCDS631.1			1	
PTH1R	0	LGGM	GRCh37	3	46939681	46939681	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	44	4	.	.	ENST00000313049.5:c.542G>T	p.Arg181Leu	p.R181L	ENST00000313049		181	cGg/cTg	0	1	1	UPI000005041F	0	getma.org/pdb.php?prot=PTH1R_HUMAN&from=174&to=183&var=R181L	ENST00000313049		ENSG00000160801	9608		48	1.335		HGNC	p.R181L		PTH1R		SNV			1				ENST00000418619	protein_coding	getma.org/?cm=var&var=hg19,3,46939681,G,T&fts=all		hmmpanther:PTHR12011:SF24,hmmpanther:PTHR12011,Superfamily_domains:SSF81321,Superfamily_domains:SSF111418,Prints_domain:PR00393		R/L		T	low	745/2123		getma.org/?cm=msa&ty=f&p=PTH1R_HUMAN&rb=144&re=213&var=R181L	deleterious(0.01)	Q71UK6_HUMAN,E7EWE7_HUMAN			YES	PTH1R,missense_variant,p.Arg181Leu,ENST00000449590,NM_000316.2;PTH1R,missense_variant,p.Arg181Leu,ENST00000313049,;PTH1R,missense_variant,p.Arg181Leu,ENST00000418619,;PTH1R,missense_variant,p.Arg181Leu,ENST00000430002,NM_001184744.1;PTH1R,missense_variant,p.Arg181Leu,ENST00000427125,;PTH1R,upstream_gene_variant,,ENST00000422115,;PTH1R,splice_region_variant,,ENST00000490109,;PTH1R,missense_variant,p.Arg181Leu,ENST00000428220,;							MODERATE	542/1782	R181L	PTH1R_HUMAN			Transcript		benign(0.11)	.	ENSP00000321999		CCDS2747.1			1	
PLIN4	0	LGGM	GRCh37	19	4517621	4517621	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	12	5	.	.	ENST00000301286.3:c.96G>A	p.Pro32=	p.P32=	ENST00000301286	NM_001080400.1	32	ccG/ccA	0	1	1	UPI00001D822A	0		ENST00000301286		ENSG00000167676	29393		17			HGNC	p.P32P	rs759116371,COSM3742998	PLIN4		SNV						0,1	ENST00000301286	protein_coding			hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF24,Low_complexity_(Seg):seg		P		T		96/6341	1.96E-05			B4DHR7_HUMAN			YES	PLIN4,synonymous_variant,p.=,ENST00000301286,NM_001080400.1;PLIN5,downstream_gene_variant,,ENST00000381848,NM_001013706.2;	0.00028				0,1		LOW	96/4074		PLIN4_HUMAN			Transcript			.	ENSP00000301286	2.49E-05	CCDS45927.1			1	
PRUNE2	0	LGGM	GRCh37	9	79234295	79234295	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	58	5	.	.	ENST00000376718.3:c.9197G>A	p.Cys3066Tyr	p.C3066Y	ENST00000376718	NM_015225.2	3066	tGc/tAc	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		63	0.805		HGNC	p.C3066Y		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79234295,C,T&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		C/Y		T	low	9321/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=3055&re=3088&var=C3066Y	deleterious(0)				YES	PRUNE2,missense_variant,p.Cys2708Tyr,ENST00000428286,;PRUNE2,missense_variant,p.Cys3066Tyr,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Cys331Tyr,ENST00000376717,;PRUNE2,missense_variant,p.Cys315Tyr,ENST00000443509,;PRUNE2,missense_variant,p.Cys238Tyr,ENST00000424866,;PRUNE2,intron_variant,,ENST00000426088,;PRUNE2,intron_variant,,ENST00000223609,;PRUNE2,intron_variant,,ENST00000466266,;PRUNE2,upstream_gene_variant,,ENST00000464414,;							MODERATE	9197/9267	C3066Y	PRUN2_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000365908		CCDS47982.1			1	
GAK	0	LGGM	GRCh37	4	877239	877239	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	62	5	.	.	ENST00000314167.4:c.1268C>A	p.Pro423Gln	p.P423Q	ENST00000314167	NM_005255.2	423	cCa/cAa	0	1	1	UPI000012B04A	0	getma.org/pdb.php?prot=GAK_HUMAN&from=399&to=566&var=P423Q	ENST00000314167		ENSG00000178950	4113		67	3.62		HGNC	p.P423Q		GAK		SNV							ENST00000314167	protein_coding	getma.org/?cm=var&var=hg19,4,877239,G,T&fts=all		Gene3D:3.90.190.10,PROSITE_profiles:PS51181,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF34,Superfamily_domains:SSF52799		P/Q		T	high	1379/4442		getma.org/?cm=msa&ty=f&p=GAK_HUMAN&rb=399&re=566&var=P423Q	deleterious(0)	Q59HA5_HUMAN,D6RF16_HUMAN,D6RC24_HUMAN			YES	GAK,missense_variant,p.Pro423Gln,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Pro344Gln,ENST00000511163,;GAK,non_coding_transcript_exon_variant,,ENST00000504947,;GAK,downstream_gene_variant,,ENST00000504435,;							MODERATE	1268/3936	P423Q	GAK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000314499		CCDS3340.1			1	
ITGA11	0	LGGM	GRCh37	15	68631893	68631893	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	42	5	.	.	ENST00000315757.7:c.1221C>T	p.Arg407=	p.R407=	ENST00000315757	NM_001004439.1	407	cgC/cgT	0	1	1	UPI00001FE74D	0		ENST00000315757		ENSG00000137809	6136		47			HGNC	p.R407R	rs778151706	ITGA11	6.13E-05	SNV							ENST00000315757	protein_coding			Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,Superfamily_domains:SSF69318		R		A		1308/5001	1.51E-05						YES	ITGA11,synonymous_variant,p.=,ENST00000423218,;ITGA11,synonymous_variant,p.=,ENST00000315757,NM_001004439.1;ITGA11,non_coding_transcript_exon_variant,,ENST00000566429,;ITGA11,upstream_gene_variant,,ENST00000569346,;							LOW	1221/3567		ITA11_HUMAN			Transcript			.	ENSP00000327290	1.65E-05	CCDS45291.1			1	
PTPRH	0	LGGM	GRCh37	19	55718122	55718122	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	60	5	.	.	ENST00000376350.3:c.287C>A	p.Thr96Lys	p.T96K	ENST00000376350	NM_002842.3	96	aCg/aAg	0	1	1	UPI000006EDE6	0	NA	ENST00000376350		ENSG00000080031	9672		65	0.6		HGNC	p.T96K		PTPRH		SNV							ENST00000263434	protein_coding	getma.org/?cm=var&var=hg19,19,55718122,G,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF254,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/K		T	neutral	310/3877		getma.org/?cm=msa&ty=f&p=PTPRH_HUMAN&rb=30&re=108&var=T96K					YES	PTPRH,missense_variant,p.Thr96Lys,ENST00000376350,NM_002842.3;PTPRH,missense_variant,p.Thr96Lys,ENST00000263434,NM_001161440.1;PTPRH,non_coding_transcript_exon_variant,,ENST00000588559,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586852,;PTPRH,non_coding_transcript_exon_variant,,ENST00000586310,;PTPRH,non_coding_transcript_exon_variant,,ENST00000588370,;PTPRH,non_coding_transcript_exon_variant,,ENST00000587662,;							MODERATE	287/3348	T96K	PTPRH_HUMAN			Transcript		benign(0.069)	.	ENSP00000365528		CCDS33110.1			1	
RPS2	0	LGGM	GRCh37	16	2012258	2012258	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	33	5	.	.	ENST00000343262.4:c.723T>G	p.Phe241Leu	p.F241L	ENST00000343262	NM_002952.3	241	ttT/ttG	0	1	1	UPI000000128D	0	getma.org/pdb.php?prot=RS2_HUMAN&from=184&to=257&var=F241L	ENST00000343262		ENSG00000140988	10404		38	2.02		HGNC	p.X210G		RPS2		SNV							ENST00000529806	protein_coding	getma.org/?cm=var&var=hg19,16,2012258,A,C&fts=all		Superfamily_domains:SSF54211,Gene3D:3.30.230.10,Pfam_domain:PF03719,TIGRFAM_domain:TIGR01020,hmmpanther:PTHR13718		F/L		C	medium	780/985		getma.org/?cm=msa&ty=f&p=RS2_HUMAN&rb=184&re=257&var=F241L	tolerated(0.07)	Q9BSW5_HUMAN,Q8NI62_HUMAN,O60249_HUMAN,H3BNG3_HUMAN,E9PMM9_HUMAN			YES	RPS2,stop_lost,p.Ter210GlyextTer4,ENST00000529806,;RPS2,missense_variant,p.Phe241Leu,ENST00000343262,NM_002952.3;RPS2,missense_variant,p.Phe183Leu,ENST00000526522,;RPS2,missense_variant,p.Leu188Trp,ENST00000530225,;RPS2,missense_variant,p.Phe143Leu,ENST00000533186,;RPS2,3_prime_UTR_variant,,ENST00000526586,;RNF151,upstream_gene_variant,,ENST00000569210,;NDUFB10,downstream_gene_variant,,ENST00000543683,;RNF151,upstream_gene_variant,,ENST00000569714,NM_174903.4;RPS2,downstream_gene_variant,,ENST00000527302,;NDUFB10,downstream_gene_variant,,ENST00000268668,NM_004548.2;NDUFB10,downstream_gene_variant,,ENST00000569148,;RPL3L,upstream_gene_variant,,ENST00000565426,;NDUFB10,downstream_gene_variant,,ENST00000570172,;RPS2,downstream_gene_variant,,ENST00000563194,;SNHG9,upstream_gene_variant,,ENST00000564014,;SNHG9,upstream_gene_variant,,ENST00000531523,;SNORA64,downstream_gene_variant,,ENST00000384674,NR_002326.1;SNORA10,downstream_gene_variant,,ENST00000384084,NR_002327.1;SNHG9,upstream_gene_variant,,ENST00000459373,NR_003020.1;RPL3L,upstream_gene_variant,,ENST00000566484,;RPS2,3_prime_UTR_variant,,ENST00000532746,;RPS2,non_coding_transcript_exon_variant,,ENST00000531065,;RPS2,non_coding_transcript_exon_variant,,ENST00000527871,;RPS2,non_coding_transcript_exon_variant,,ENST00000533161,;RPS2,non_coding_transcript_exon_variant,,ENST00000533872,;RPS2,non_coding_transcript_exon_variant,,ENST00000527109,;NDUFB10,downstream_gene_variant,,ENST00000565031,;RPS2,downstream_gene_variant,,ENST00000527826,;RPS2,downstream_gene_variant,,ENST00000534461,;RPS2,downstream_gene_variant,,ENST00000526908,;AC005363.9,downstream_gene_variant,,ENST00000530779,;							MODERATE	723/882	F241L	RS2_HUMAN			Transcript		benign(0.363)	.	ENSP00000341885		CCDS10452.1			1	
POM121C	0	LGGM	GRCh37	7	75052297	75052297	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	49	5	.	.	ENST00000453279.2:c.1238C>A	p.Ala413Glu	p.A413E	ENST00000453279	NM_001099415.2	413	gCa/gAa	0	1	1	UPI00001C1E87	0	NA	ENST00000453279		ENSG00000135213	34005		54	0.895		HGNC	p.A413E		POM121C		SNV							ENST00000453279	protein_coding	getma.org/?cm=var&var=hg19,7,75052297,G,T&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5		A/E		T	low	2103/5839		getma.org/?cm=msa&ty=f&p=P121B_HUMAN&rb=8&re=832&var=A262E	tolerated(0.44)	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN			YES	POM121C,missense_variant,p.Ala413Glu,ENST00000453279,NM_001099415.2;POM121C,missense_variant,p.Ala655Glu,ENST00000257665,;POM121C,downstream_gene_variant,,ENST00000439629,;POM121C,downstream_gene_variant,,ENST00000473168,;POM121C,upstream_gene_variant,,ENST00000476072,;POM121C,downstream_gene_variant,,ENST00000473609,;POM121C,downstream_gene_variant,,ENST00000479864,;							MODERATE	1238/2964	A262E	P121C_HUMAN			Transcript		benign(0.022)	.	ENSP00000414208		CCDS47617.1			1	
CLDN10	0	LGGM	GRCh37	13	96086117	96086117	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	41	5	.	.	ENST00000376873.3:c.30G>A	p.Val10=	p.V10=	ENST00000376873	NM_182848.3	10	gtG/gtA	0	1	1	UPI0000037786	0		ENST00000376873		ENSG00000134873	2033		46			HGNC	p.V10V		CLDN10		SNV							ENST00000376873	protein_coding			Pfam_domain:PF00822,hmmpanther:PTHR12002:SF13,hmmpanther:PTHR12002,Transmembrane_helices:TMhelix		V		A		260/2656				Q5W075_HUMAN				CLDN10,synonymous_variant,p.=,ENST00000376873,NM_182848.3,NM_001160100.1;							LOW	30/681		CLD10_HUMAN			Transcript			.	ENSP00000366069		CCDS9475.1			1	
MDN1	0	LGGM	GRCh37	6	90408634	90408634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	93	6	.	.	ENST00000369393.3:c.9118G>T	p.Gly3040Cys	p.G3040C	ENST00000369393		3040	Ggt/Tgt	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		99	0.55		HGNC	p.G3040C		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90408634,C,A&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		G/C		A	neutral	9234/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=2873&re=3072&var=G3040C		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Gly3040Cys,ENST00000369393,;MDN1,missense_variant,p.Gly3040Cys,ENST00000428876,NM_014611.1;							MODERATE	9118/16791	G3040C	MDN1_HUMAN			Transcript		benign(0.009)	.	ENSP00000358400		CCDS5024.1			1	
ACADS	0	LGGM	GRCh37	12	121176126	121176126	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	32	6	.	.	ENST00000242592.4:c.668C>G	p.Thr223Arg	p.T223R	ENST00000242592	NM_000017.2	223	aCg/aGg	0	1	1	UPI000004A863	0	getma.org/pdb.php?prot=ACADS_HUMAN&from=203&to=257&var=T223R	ENST00000242592		ENSG00000122971	90		38	1.005		HGNC	p.T223R		ACADS		SNV			1				ENST00000242592	protein_coding	getma.org/?cm=var&var=hg19,12,121176126,C,G&fts=all		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF10,Gene3D:2.40.110.10,PIRSF_domain:PIRSF016578,Superfamily_domains:SSF56645		T/R		G	low	819/1950		getma.org/?cm=msa&ty=f&p=ACADS_HUMAN&rb=203&re=257&var=T223R	deleterious(0.03)	E5KSD5_HUMAN			YES	ACADS,missense_variant,p.Thr223Arg,ENST00000242592,NM_000017.2;ACADS,missense_variant,p.Thr219Arg,ENST00000411593,;RP11-173P15.7,downstream_gene_variant,,ENST00000542620,;ACADS,downstream_gene_variant,,ENST00000539690,;							MODERATE	668/1239	T223R	ACADS_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000242592		CCDS9207.1			1	
ST8SIA2	0	LGGM	GRCh37	15	92988157	92988157	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	32	6	.	.	ENST00000268164.3:c.840C>T	p.Arg280=	p.R280=	ENST00000268164	NM_006011.3	280	cgC/cgT	0	1	1	UPI0000135970	0		ENST00000268164		ENSG00000140557	10870		38			HGNC	p.R259R	rs541352424	ST8SIA2	6.08E-05	SNV							ENST00000539113	protein_coding		T:0	PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR11987:SF30,hmmpanther:PTHR11987		R		T		1077/5708	1.56E-05			B2R9U8_HUMAN	T:0	T:0	YES	ST8SIA2,splice_region_variant,p.=,ENST00000268164,NM_006011.3;ST8SIA2,splice_region_variant,p.=,ENST00000539113,;ST8SIA2,splice_region_variant,p.=,ENST00000555434,;ST8SIA2,non_coding_transcript_exon_variant,,ENST00000556382,;	0.000118	T:0.0002					LOW	840/1128		SIA8B_HUMAN		T:0	Transcript			.	ENSP00000268164	2.47E-05	CCDS10372.1		T:0.001	1	
NRIP2	0	LGGM	GRCh37	12	2939968	2939968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	32	6	.	.	ENST00000337508.4:c.401G>A	p.Gly134Glu	p.G134E	ENST00000337508	NM_031474.2	134	gGg/gAg	0	1	1	UPI000006E2A1	0	NA	ENST00000337508		ENSG00000053702	23078		38	1.65		HGNC	p.G134E		NRIP2		SNV							ENST00000337508	protein_coding	getma.org/?cm=var&var=hg19,12,2939968,C,T&fts=all		hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF3		G/E		T	low	442/2746		getma.org/?cm=msa&ty=f&p=NRIP2_HUMAN&rb=1&re=139&var=G134E	deleterious(0.04)	F5H2G5_HUMAN,F5H065_HUMAN,A2RRE3_HUMAN			YES	NRIP2,missense_variant,p.Gly134Glu,ENST00000337508,NM_031474.2;NRIP2,missense_variant,p.Gly84Glu,ENST00000542990,;NRIP2,missense_variant,p.Gly84Glu,ENST00000542386,;ITFG2,downstream_gene_variant,,ENST00000542548,;ITFG2,non_coding_transcript_exon_variant,,ENST00000552005,;ITFG2,intron_variant,,ENST00000538822,;ITFG2,downstream_gene_variant,,ENST00000540929,;							MODERATE	401/846	G134E	NRIP2_HUMAN			Transcript		benign(0.209)	.	ENSP00000337501		CCDS8514.1			1	
CACNA1A	0	LGGM	GRCh37	19	13394129	13394129	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	36	6	.	.	ENST00000360228.5:c.3774C>G	p.Ile1258Met	p.I1258M	ENST00000360228	NM_001127222.1	1258	atC/atG	0	1	1	UPI0000141565	0	NA	ENST00000360228		ENSG00000141837	1388		42	1.74		HGNC	p.I1259M		CACNA1A		SNV			1				ENST00000325084	protein_coding	getma.org/?cm=var&var=hg19,19,13394129,G,C&fts=all		Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		I/M		C	low	3774/8392		getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=1114&re=1278&var=I1259M		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,missense_variant,p.Ile1258Met,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Ile1259Met,ENST00000573710,NM_001127221.1;							MODERATE	3774/7521	I1259M	CAC1A_HUMAN			Transcript		benign(0.266)	.	ENSP00000353362		CCDS45998.1			1	
KMT2D	0	LGGM	GRCh37	12	49431509	49431509	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	19	6	.	.	ENST00000301067.7:c.9630G>A	p.Leu3210=	p.L3210=	ENST00000301067	NM_003482.3	3210	ctG/ctA	0	1	1	UPI0000EE84D6	0		ENST00000301067		ENSG00000167548	7133		25			HGNC	p.L3210L		KMT2D		SNV			1				ENST00000301067	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,Low_complexity_(Seg):seg		L		T		9630/19419				Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,synonymous_variant,p.=,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000549743,;KMT2D,downstream_gene_variant,,ENST00000549799,;							LOW	9630/16614		KMT2D_HUMAN			Transcript			.	ENSP00000301067		CCDS44873.1			1	
LARGE	0	LGGM	GRCh37	22	34157358	34157358	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	173	7	.	.	ENST00000354992.2:c.106G>A	p.Asp36Asn	p.D36N	ENST00000354992	NM_004737.4	36	Gat/Aat	0	1	1	UPI000012E200	0	NA	ENST00000354992		ENSG00000133424	6511		180	-0.345		HGNC	p.D36N		LARGE		SNV			1				ENST00000397394	protein_coding	getma.org/?cm=var&var=hg19,22,34157358,C,T&fts=all				D/N		T	neutral	678/4409		getma.org/?cm=msa&ty=f&p=LARGE_HUMAN&rb=1&re=88&var=D36N	tolerated_low_confidence(1)	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN			YES	LARGE,missense_variant,p.Asp36Asn,ENST00000354992,NM_004737.4;LARGE,missense_variant,p.Asp36Asn,ENST00000337431,;LARGE,missense_variant,p.Asp36Asn,ENST00000397394,NM_133642.3;LARGE,missense_variant,p.Asp36Asn,ENST00000402320,;LARGE,missense_variant,p.Asp36Asn,ENST00000437602,;LARGE,missense_variant,p.Asp36Asn,ENST00000413114,;LARGE,missense_variant,p.Asp36Asn,ENST00000423375,;LARGE,missense_variant,p.Asp36Asn,ENST00000434071,;LARGE,missense_variant,p.Asp36Asn,ENST00000432776,;LARGE,missense_variant,p.Asp36Asn,ENST00000430220,;LARGE,splice_region_variant,,ENST00000494763,;							MODERATE	106/2271	D36N	LARGE_HUMAN			Transcript		benign(0)	.	ENSP00000347088		CCDS13912.1			1	
SORL1	0	LGGM	GRCh37	11	121437722	121437722	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	31	7	.	.	ENST00000260197.7:c.3123G>A	p.Arg1041=	p.R1041=	ENST00000260197	NM_003105.5	1041	agG/agA	0	1	1	UPI000013D0B1	0		ENST00000260197		ENSG00000137642	11185		38			HGNC	p.R1041R		SORL1		SNV			1				ENST00000260197	protein_coding			hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF20		R		A		3252/10904				E9PS32_HUMAN,E9PPB3_HUMAN			YES	SORL1,synonymous_variant,p.=,ENST00000260197,NM_003105.5;SORL1,5_prime_UTR_variant,,ENST00000525532,;							LOW	3123/6645		SORL_HUMAN			Transcript			.	ENSP00000260197		CCDS8436.1			1	
NEMF	0	LGGM	GRCh37	14	50295820	50295820	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	144	7	.	.	ENST00000298310.5:c.1184C>G	p.Ala395Gly	p.A395G	ENST00000298310		395	gCa/gGa	0	1	1	UPI0000246D16	0	NA	ENST00000298310		ENSG00000165525	10663		151	2.535		HGNC	p.A353G		NEMF		SNV							ENST00000545773	protein_coding	getma.org/?cm=var&var=hg19,14,50295820,G,C&fts=all		Pfam_domain:PF05833,hmmpanther:PTHR15239,hmmpanther:PTHR15239:SF1		A/G		C	medium	1634/5038		getma.org/?cm=msa&ty=f&p=NEMF_HUMAN&rb=6&re=525&var=A395G	deleterious(0)				YES	NEMF,missense_variant,p.Ala395Gly,ENST00000298310,;NEMF,missense_variant,p.Ala353Gly,ENST00000545773,NM_004713.3;NEMF,missense_variant,p.Ala395Gly,ENST00000546046,;NEMF,missense_variant,p.Ala353Gly,ENST00000555970,;AL627171.2,downstream_gene_variant,,ENST00000595378,;AL627171.1,downstream_gene_variant,,ENST00000358799,;NEMF,non_coding_transcript_exon_variant,,ENST00000556925,;NEMF,non_coding_transcript_exon_variant,,ENST00000557380,;NEMF,upstream_gene_variant,,ENST00000555411,;NEMF,non_coding_transcript_exon_variant,,ENST00000553696,;NEMF,non_coding_transcript_exon_variant,,ENST00000556882,;							MODERATE	1184/3231	A395G	NEMF_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000298310		CCDS9694.1			1	
CABS1	0	LGGM	GRCh37	4	71200761	71200761	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	42	7	.	.	ENST00000273936.5:c.5C>A	p.Ala2Asp	p.A2D	ENST00000273936	NM_033122.3	2	gCt/gAt	0	1	1	UPI0000071735	0	NA	ENST00000273936		ENSG00000145309	30710		49	1.04		HGNC	p.A2D		CABS1		SNV							ENST00000273936	protein_coding	getma.org/?cm=var&var=hg19,4,71200761,C,A&fts=all		hmmpanther:PTHR22810,Pfam_domain:PF15367		A/D		A	low	79/1532		getma.org/?cm=msa&ty=f&p=CABS1_HUMAN&rb=1&re=393&var=A2D	deleterious(0)				YES	CABS1,missense_variant,p.Ala2Asp,ENST00000273936,NM_033122.3;							MODERATE	5/1188	A2D	CABS1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000273936		CCDS3539.1			1	
RB1	0	LGGM	GRCh37	13	48955538	48955538	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	40	7	.	.	ENST00000267163.4:c.1654C>T	p.Arg552Ter	p.R552*	ENST00000267163	NM_000321.2	552	Cga/Tga	0	1	1	UPI0000001C79	0	NA	ENST00000267163	pathogenic	ENSG00000139687	9884		47	0		HGNC	p.R552*	rs121913303,COSM887,COSM1300225	RB1		SNV			1			1,1,1	ENST00000267163	protein_coding	getma.org/?cm=var&var=hg19,13,48955538,C,T&fts=all		hmmpanther:PTHR13742,Pfam_domain:PF01858,Gene3D:1.10.472.10,Superfamily_domains:SSF47954		R/*		T	NA	1792/4840		NA		Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,stop_gained,p.Arg552Ter,ENST00000267163,NM_000321.2;					0,1,1		HIGH	1654/2787	R552*	RB_HUMAN			Transcript			.	ENSP00000267163		CCDS31973.1			1	
KLHDC2	0	LGGM	GRCh37	14	50244969	50244969	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	40	8	.	.	ENST00000298307.5:c.541T>C	p.Ser181Pro	p.S181P	ENST00000298307	NM_014315.2	181	Tct/Cct	0	1	1	UPI00000372DF	0	NA	ENST00000298307		ENSG00000165516	20231		48	1.865		HGNC	p.S181P		KLHDC2		SNV							ENST00000298307	protein_coding	getma.org/?cm=var&var=hg19,14,50244969,T,C&fts=all		hmmpanther:PTHR23244:SF261,hmmpanther:PTHR23244		S/P		C	low	1402/2320		getma.org/?cm=msa&ty=f&p=KLDC2_HUMAN&rb=92&re=216&var=S181P	deleterious(0)				YES	KLHDC2,missense_variant,p.Ser181Pro,ENST00000298307,NM_014315.2;KLHDC2,missense_variant,p.Ser181Pro,ENST00000554589,;KLHDC2,missense_variant,p.Ser181Pro,ENST00000557247,;KLHDC2,non_coding_transcript_exon_variant,,ENST00000553538,;KLHDC2,missense_variant,p.Ser181Pro,ENST00000555443,;KLHDC2,missense_variant,p.Ser181Pro,ENST00000555739,;KLHDC2,non_coding_transcript_exon_variant,,ENST00000557063,;KLHDC2,non_coding_transcript_exon_variant,,ENST00000556559,;KLHDC2,upstream_gene_variant,,ENST00000553579,;KLHDC2,upstream_gene_variant,,ENST00000554115,;KLHDC2,downstream_gene_variant,,ENST00000553703,;							MODERATE	541/1221	S181P	KLDC2_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000298307		CCDS9693.1			1	
KIT	0	LGGM	GRCh37	4	55602905	55602905	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	71	8	.	.	ENST00000288135.5:c.2615G>C	p.Gly872Ala	p.G872A	ENST00000288135	NM_000222.2	872	gGa/gCa	0	1	1	UPI000003F17D	0	getma.org/pdb.php?prot=KIT_HUMAN&from=589&to=924&var=G872A	ENST00000288135		ENSG00000157404	6342		79	1.285		HGNC	p.G872A		KIT		SNV			1				ENST00000288135	protein_coding	getma.org/?cm=var&var=hg19,4,55602905,G,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF46,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000615,SMART_domains:SM00219,PIRSF_domain:PIRSF500951,Superfamily_domains:SSF56112		G/A		C	low	2712/5186		getma.org/?cm=msa&ty=f&p=KIT_HUMAN&rb=589&re=924&var=G872A	deleterious(0.01)	Q8TCG9_HUMAN			YES	KIT,missense_variant,p.Gly872Ala,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,missense_variant,p.Gly868Ala,ENST00000412167,;KIT,downstream_gene_variant,,ENST00000512959,;							MODERATE	2615/2931	G872A	KIT_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000288135		CCDS3496.1			1	
EIF5	0	LGGM	GRCh37	14	103805095	103805095	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	82	10	.	.	ENST00000216554.3:c.609G>T	p.Trp203Cys	p.W203C	ENST00000216554	NM_001969.4	203	tgG/tgT	0	1	1	UPI000012D3A5	0	NA	ENST00000216554		ENSG00000100664	3299		92	2.81		HGNC	p.W203C		EIF5		SNV							ENST00000216554	protein_coding	getma.org/?cm=var&var=hg19,14,103805095,G,T&fts=all		hmmpanther:PTHR23001,Low_complexity_(Seg):seg		W/C		T	medium	1285/5945		getma.org/?cm=msa&ty=f&p=IF5_HUMAN&rb=131&re=307&var=W203C	deleterious(0.02)	H0YN40_HUMAN,H0YMJ8_HUMAN,H0YM54_HUMAN,H0YLZ1_HUMAN,H0YK29_HUMAN,H0YK11_HUMAN			YES	EIF5,missense_variant,p.Trp203Cys,ENST00000216554,NM_001969.4;EIF5,missense_variant,p.Trp203Cys,ENST00000558506,;EIF5,missense_variant,p.Trp203Cys,ENST00000392715,NM_183004.4;EIF5,downstream_gene_variant,,ENST00000558265,;EIF5,downstream_gene_variant,,ENST00000560763,;EIF5,downstream_gene_variant,,ENST00000558316,;EIF5,downstream_gene_variant,,ENST00000559532,;EIF5,downstream_gene_variant,,ENST00000559130,;EIF5,downstream_gene_variant,,ENST00000560338,;EIF5,downstream_gene_variant,,ENST00000561325,;SNORA28,downstream_gene_variant,,ENST00000606769,NR_002964.1;EIF5,downstream_gene_variant,,ENST00000560200,;EIF5,downstream_gene_variant,,ENST00000560877,;EIF5,upstream_gene_variant,,ENST00000561406,;EIF5,non_coding_transcript_exon_variant,,ENST00000561380,;EIF5,non_coding_transcript_exon_variant,,ENST00000561439,;EIF5,non_coding_transcript_exon_variant,,ENST00000559011,;EIF5,downstream_gene_variant,,ENST00000558551,;EIF5,downstream_gene_variant,,ENST00000559923,;EIF5,downstream_gene_variant,,ENST00000559249,;EIF5,downstream_gene_variant,,ENST00000561023,;EIF5,upstream_gene_variant,,ENST00000558800,;							MODERATE	609/1296	W203C	IF5_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000216554		CCDS9980.1			1	
FBXL16	0	LGGM	GRCh37	16	746946	746946	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	23	10	.	.	ENST00000397621.1:c.460G>A	p.Glu154Lys	p.E154K	ENST00000397621	NM_153350.3	154	Gag/Aag	0	1		UPI0000141371	0	getma.org/pdb.php?prot=FXL16_HUMAN&from=86&to=285&var=E154K	ENST00000324361		ENSG00000127585	14150		33	1.1		HGNC	p.E154K		FBXL16		SNV							ENST00000324361	protein_coding	getma.org/?cm=var&var=hg19,16,746946,C,T&fts=all		Superfamily_domains:SSF81383,hmmpanther:PTHR23125:SF233,hmmpanther:PTHR23125		E/K		T	low	663/3400		getma.org/?cm=msa&ty=f&p=FXL16_HUMAN&rb=86&re=285&var=E154K	tolerated(0.1)	Q8N4J3_HUMAN,B3KR59_HUMAN				FBXL16,missense_variant,p.Glu154Lys,ENST00000397621,NM_153350.3;FBXL16,missense_variant,p.Glu154Lys,ENST00000324361,;FBXL16,upstream_gene_variant,,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,;							MODERATE	460/1440	E154K	FXL16_HUMAN			Transcript		benign(0.012)	.	ENSP00000318674		CCDS10421.1			1	
EMR1	0	LGGM	GRCh37	19	6926611	6926611	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	26	10	.	.	ENST00000312053.4:c.2221C>A	p.Arg741Ser	p.R741S	ENST00000312053	NM_001974.4	741	Cgc/Agc	0	1	1	UPI0000203241	0	NA	ENST00000312053		ENSG00000174837	3336		36	1.385		HGNC	p.R676S		EMR1		SNV							ENST00000250572	protein_coding	getma.org/?cm=var&var=hg19,19,6926611,C,A&fts=all		Pfam_domain:PF00002,Prints_domain:PR01128,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207,Superfamily_domains:SSF81321		R/S		A	low	2258/3128		getma.org/?cm=msa&ty=f&p=EMR1_HUMAN&rb=599&re=840&var=R741S	tolerated(0.05)				YES	EMR1,missense_variant,p.Arg741Ser,ENST00000312053,NM_001974.4;EMR1,missense_variant,p.Arg689Ser,ENST00000381404,NM_001256252.1;EMR1,missense_variant,p.Arg676Ser,ENST00000250572,NM_001256253.1;EMR1,missense_variant,p.Arg600Ser,ENST00000381407,NM_001256254.1;EMR1,missense_variant,p.Arg564Ser,ENST00000450315,NM_001256255.1;							MODERATE	2221/2661	R741S	EMR1_HUMAN			Transcript		possibly_damaging(0.662)	.	ENSP00000311545		CCDS12175.1			1	
ZFYVE26	0	LGGM	GRCh37	14	68256316	68256316	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	53	11	.	.	ENST00000347230.4:c.2756-1G>A		p.X919_splice	ENST00000347230	NM_015346.3			0	1	1	UPI00001FD735	0		ENST00000347230		ENSG00000072121	20761		64			HGNC	-		ZFYVE26		SNV			1				ENST00000347230	protein_coding							T		-/9675							YES	ZFYVE26,splice_acceptor_variant,,ENST00000347230,NM_015346.3;ZFYVE26,splice_acceptor_variant,,ENST00000555452,;ZFYVE26,splice_acceptor_variant,,ENST00000554523,;ZFYVE26,splice_acceptor_variant,,ENST00000554557,;							HIGH	2756/7620		ZFY26_HUMAN			Transcript			.	ENSP00000251119		CCDS9788.1			1	
POTEG	0	LGGM	GRCh37	14	19563498	19563498	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	130	12	.	.	ENST00000409832.3:c.1012G>C	p.Gly338Arg	p.G338R	ENST00000409832	NM_001005356.2	338	Gga/Cga	0	1		UPI00015DFD28	0	getma.org/pdb.php?prot=POTEG_HUMAN&from=281&to=368&var=G338R	ENST00000547889		ENSG00000222036	33896		142	3.07		HGNC	p.G338R		POTEG		SNV							ENST00000409832	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,14,19563498,G,C&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		G/R		C	medium	1064/1975		getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=281&re=368&var=G338R	deleterious(0.03)					POTEG,missense_variant,p.Gly338Arg,ENST00000409832,NM_001005356.2;CTD-2311B13.5,non_coding_transcript_exon_variant,,ENST00000548748,;RNU6-1239P,upstream_gene_variant,,ENST00000391310,;POTEG,missense_variant,p.Gly338Arg,ENST00000547889,;POTEG,3_prime_UTR_variant,,ENST00000552966,;							MODERATE	1012/1461	G338R	POTEG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000448062					1	
UQCR10	0	LGGM	GRCh37	22	30163438	30163438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	67	12	.	.	ENST00000330029.6:c.51G>T	p.Arg17Ser	p.R17S	ENST00000330029	NM_001003684.1	17	agG/agT	0	1	1	UPI0000169236	0		ENST00000330029		ENSG00000184076	30863		79			HGNC	p.R17S		UQCR10		SNV							ENST00000330029	protein_coding			Gene3D:1.20.5.260,Pfam_domain:PF05365,hmmpanther:PTHR12980,hmmpanther:PTHR12980:SF0,Superfamily_domains:SSF81514,Transmembrane_helices:TMhelix		R/S		T		81/916			deleterious(0)				YES	UQCR10,missense_variant,p.Arg17Ser,ENST00000330029,NM_001003684.1,NM_013387.3;UQCR10,missense_variant,p.Arg17Ser,ENST00000401406,;ZMAT5,upstream_gene_variant,,ENST00000397781,NM_019103.2;ZMAT5,upstream_gene_variant,,ENST00000344318,NM_001003692.1;ZMAT5,upstream_gene_variant,,ENST00000489010,;							MODERATE	51/192		QCR9_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000332887		CCDS46680.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147869470	147869470	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	63	12	.	.	ENST00000361727.3:c.2910T>G	p.Tyr970Ter	p.Y970*	ENST00000361727	NM_014141.5	970	taT/taG	0	1	1	UPI00001285FA	0	NA	ENST00000361727		ENSG00000174469	13830		75	0		HGNC	p.Y970X		CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,147869470,T,G&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,SMART_domains:SM00181		Y/*		G	NA	3426/9894		NA		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			YES	CNTNAP2,stop_gained,p.Tyr970Ter,ENST00000361727,NM_014141.5;CNTNAP2,stop_gained,p.Tyr29Ter,ENST00000538075,;							HIGH	2910/3996	Y970*	CNTP2_HUMAN			Transcript			.	ENSP00000354778		CCDS5889.1			1	
MUC16	0	LGGM	GRCh37	19	9049571	9049571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	174	12	.	.	ENST00000397910.4:c.32060C>T	p.Pro10687Leu	p.P10687L	ENST00000397910	NM_024690.2	10687	cCt/cTt	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		186	0.695		HGNC	p.P10687L	rs757754860,COSM218618,COSM218619	MUC16		SNV						0,1,1	ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9049571,G,A&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		P/L		A	neutral	32264/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=10664&re=10863&var=P10689L		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Pro10687Leu,ENST00000397910,NM_024690.2;					0,1,1		MODERATE	32060/43524	P10689L		0.000151		Transcript		benign(0.007)	.	ENSP00000381008	8.26E-06	CCDS54212.1			1	
TRPS1	0	LGGM	GRCh37	8	116426332	116426332	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	209	12	.	.	ENST00000395715.3:c.3804A>T	p.Lys1268Asn	p.K1268N	ENST00000395715	NM_014112.2	1268	aaA/aaT	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		221	2.095		HGNC	p.K1268N		TRPS1		SNV			1				ENST00000395715	protein_coding	getma.org/?cm=var&var=hg19,8,116426332,T,A&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,PROSITE_patterns:PS00028,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/N		A	medium	3925/5480		getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=1131&re=1281&var=K1255N	deleterious(0)					TRPS1,missense_variant,p.Lys1268Asn,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Lys1255Asn,ENST00000220888,;TRPS1,missense_variant,p.Lys1259Asn,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Lys1009Asn,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000518018,;							MODERATE	3765/3846	K1255N	TRPS1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000220888					1	
PPP2R1B	0	LGGM	GRCh37	11	111597770	111597770	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	35	12	.	.	ENST00000311129.5:c.1923T>A	p.Tyr641Ter	p.Y641*	ENST00000311129	NM_181699.2	641	taT/taA	0	1	1	UPI000006CEE0	0	NA	ENST00000311129		ENSG00000137713	9303		47	0		HGNC	p.Y577X		PPP2R1B		SNV							ENST00000426998	protein_coding	getma.org/?cm=var&var=hg19,11,111597770,A,T&fts=all		hmmpanther:PTHR10648:SF9,hmmpanther:PTHR10648		Y/*		T	NA	1944/2082		NA					YES	PPP2R1B,stop_gained,p.Tyr641Ter,ENST00000311129,NM_181699.2;PPP2R1B,stop_gained,p.Tyr577Ter,ENST00000426998,NM_181700.1;SIK2,3_prime_UTR_variant,,ENST00000304987,NM_015191.1;PPP2R1B,non_coding_transcript_exon_variant,,ENST00000530787,;							HIGH	1923/2004	Y641*	2AAB_HUMAN			Transcript			.	ENSP00000311344		CCDS8348.1			1	
RAPGEF3	0	LGGM	GRCh37	12	48143179	48143179	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	32	12	.	.	ENST00000449771.2:c.1035C>T	p.Ile345=	p.I345=	ENST00000449771		345	atC/atT	0	1		UPI0000406B36	0		ENST00000389212		ENSG00000079337	16629		44			HGNC	p.I345I		RAPGEF3		SNV							ENST00000395358	protein_coding			Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF24,SMART_domains:SM00100,Superfamily_domains:SSF51206		I		A		1247/3294				F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN				RAPGEF3,synonymous_variant,p.=,ENST00000405493,NM_001098532.2,NM_006105.5;RAPGEF3,synonymous_variant,p.=,ENST00000395358,;RAPGEF3,synonymous_variant,p.=,ENST00000171000,NM_001098531.2;RAPGEF3,synonymous_variant,p.=,ENST00000449771,;RAPGEF3,synonymous_variant,p.=,ENST00000389212,;RAPGEF3,synonymous_variant,p.=,ENST00000549151,;RAPGEF3,synonymous_variant,p.=,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,;							LOW	1035/2772		RPGF3_HUMAN			Transcript			.	ENSP00000373864		CCDS41775.1			1	
PPP2R1B	0	LGGM	GRCh37	11	111597769	111597769	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	35	13	.	.	ENST00000311129.5:c.1924C>G	p.Gln642Glu	p.Q642E	ENST00000311129	NM_181699.2	642	Cag/Gag	0	1	1	UPI000006CEE0	0	NA	ENST00000311129		ENSG00000137713	9303		48	0		HGNC	p.Q578E		PPP2R1B		SNV							ENST00000426998	protein_coding	getma.org/?cm=var&var=hg19,11,111597769,G,C&fts=all		hmmpanther:PTHR10648:SF9,hmmpanther:PTHR10648		Q/E		C	neutral	1945/2082		getma.org/?cm=msa&ty=f&p=A8K8B0_HUMAN&rb=597&re=667&var=Q642E	deleterious_low_confidence(0.04)				YES	PPP2R1B,missense_variant,p.Gln642Glu,ENST00000311129,NM_181699.2;PPP2R1B,missense_variant,p.Gln578Glu,ENST00000426998,NM_181700.1;SIK2,3_prime_UTR_variant,,ENST00000304987,NM_015191.1;PPP2R1B,non_coding_transcript_exon_variant,,ENST00000530787,;							MODERATE	1924/2004	Q642E	2AAB_HUMAN			Transcript		benign(0.004)	.	ENSP00000311344		CCDS8348.1			1	
SLC7A11	0	LGGM	GRCh37	4	139135766	139135766	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	22	14	.	.	ENST00000280612.5:c.764T>C	p.Val255Ala	p.V255A	ENST00000280612	NM_014331.3	255	gTt/gCt	0	1	1	UPI0000138FD5	0	getma.org/pdb.php?prot=XCT_HUMAN&from=44&to=469&var=V255A	ENST00000280612		ENSG00000151012	11059		36	2.765		HGNC	p.V55A		SLC7A11		SNV							ENST00000509248	protein_coding	getma.org/?cm=var&var=hg19,4,139135766,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF248,Pfam_domain:PF13520,TIGRFAM_domain:TIGR00911,PIRSF_domain:PIRSF006060		V/A		G	medium	1044/9645		getma.org/?cm=msa&ty=f&p=XCT_HUMAN&rb=44&re=469&var=V255A	deleterious(0.05)	Q9P1X0_HUMAN,Q4W5A5_HUMAN			YES	SLC7A11,missense_variant,p.Val255Ala,ENST00000280612,NM_014331.3;SLC7A11,missense_variant,p.Val55Ala,ENST00000509248,;							MODERATE	764/1506	V255A	XCT_HUMAN			Transcript		benign(0.126)	.	ENSP00000280612		CCDS3742.1			1	
ANKRD18B	0	LGGM	GRCh37	9	33548061	33548061	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	61	15	.	.	ENST00000290943.6:c.1089A>G	p.Lys363=	p.K363=	ENST00000290943	NM_001244752.1	363	aaA/aaG	0	1	1	UPI0000EE047B	0		ENST00000290943		ENSG00000230453	23644		76			HGNC	p.K363K		ANKRD18B		SNV							ENST00000290943	protein_coding			hmmpanther:PTHR24147:SF22,hmmpanther:PTHR24147,Pfam_domain:PF14915		K		G		1185/3773							YES	ANKRD18B,synonymous_variant,p.=,ENST00000290943,NM_001244752.1;ANKRD18B,upstream_gene_variant,,ENST00000357927,;ANKRD18B,downstream_gene_variant,,ENST00000605687,;							LOW	1089/3036		AN18B_HUMAN			Transcript			.	ENSP00000290943					1	
COL1A2	0	LGGM	GRCh37	7	94037678	94037678	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	32	15	.	.	ENST00000297268.6:c.724C>T	p.Pro242Ser	p.P242S	ENST00000297268	NM_000089.3	242	Ccc/Tcc	0	1	1	UPI00003B0CFC	0	getma.org/pdb.php?prot=CO1A2_HUMAN&from=208&to=407&var=P242S	ENST00000297268		ENSG00000164692	2198		47	0.915		HGNC	p.P242S		COL1A2		SNV			1				ENST00000297268	protein_coding	getma.org/?cm=var&var=hg19,7,94037678,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441		P/S		T	low	1195/5411		getma.org/?cm=msa&ty=f&p=CO1A2_HUMAN&rb=208&re=407&var=P242S		Q75N18_HUMAN,A2TIK1_HUMAN			YES	COL1A2,missense_variant,p.Pro242Ser,ENST00000297268,NM_000089.3;							MODERATE	724/4101	P242S	CO1A2_HUMAN			Transcript		unknown(0)	.	ENSP00000297268		CCDS34682.1			1	
ZNF35	0	LGGM	GRCh37	3	44700919	44700919	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	49	16	.	.	ENST00000396056.2:c.1064T>C	p.Ile355Thr	p.I355T	ENST00000396056	NM_003420.3	355	aTc/aCc	0	1	1	UPI000020A5BF	0	getma.org/pdb.php?prot=ZNF35_HUMAN&from=348&to=373&var=I355T	ENST00000396056		ENSG00000169981	13099		65	-0.045		HGNC	p.I195T		ZNF35		SNV							ENST00000542250	protein_coding	getma.org/?cm=var&var=hg19,3,44700919,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF60,SMART_domains:SM00355,Superfamily_domains:SSF57667		I/T		C	neutral	1299/2661		getma.org/?cm=msa&ty=f&p=ZNF35_HUMAN&rb=328&re=393&var=I355T	tolerated(0.14)	C9JGS9_HUMAN,C9JGR2_HUMAN,B4DUB8_HUMAN			YES	ZNF35,missense_variant,p.Ile355Thr,ENST00000396056,NM_003420.3;ZNF35,missense_variant,p.Ile195Thr,ENST00000542250,;ZNF35,3_prime_UTR_variant,,ENST00000296092,;ZNF35,downstream_gene_variant,,ENST00000415571,;ZNF35,downstream_gene_variant,,ENST00000453164,;ZNF35,downstream_gene_variant,,ENST00000399560,;RP11-944L7.4,intron_variant,,ENST00000457331,;							MODERATE	1064/1584	I355T	ZNF35_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379368		CCDS2718.2			1	
C9orf89	0	LGGM	GRCh37	9	95875297	95875297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	30	16	.	.	ENST00000375464.2:c.460C>T	p.Arg154Trp	p.R154W	ENST00000375464	NM_032310.3	154	Cgg/Tgg	0	1		UPI0000073C99	0		ENST00000466409		ENSG00000165233	28148		46			HGNC	p.R154W	rs573875092	C9orf89	0.000162	SNV							ENST00000375464	nonsense_mediated_decay		T:0					T		2024/2291					T:0	T:0		C9orf89,missense_variant,p.Arg154Trp,ENST00000375464,NM_032310.3;C9orf89,non_coding_transcript_exon_variant,,ENST00000488630,;C9orf89,non_coding_transcript_exon_variant,,ENST00000490488,;C9orf89,non_coding_transcript_exon_variant,,ENST00000468781,;C9orf89,downstream_gene_variant,,ENST00000495641,;C9orf89,downstream_gene_variant,,ENST00000498243,;C9orf89,downstream_gene_variant,,ENST00000466929,;C9orf89,downstream_gene_variant,,ENST00000475574,;C9orf89,3_prime_UTR_variant,,ENST00000466409,;		T:0.0002					MODIFIER	-/687		BINCA_HUMAN		T:0	Transcript			.	ENSP00000437237	1.65E-05			T:0.001	1	
COL4A1	0	LGGM	GRCh37	13	110814740	110814740	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	81	17	.	.	ENST00000375820.4:c.4299C>A	p.Ser1433=	p.S1433=	ENST00000375820	NM_001845.4	1433	tcC/tcA	0	1	1	UPI00001FCA8A	0		ENST00000375820		ENSG00000187498	2202		98			HGNC	p.S1082S		COL4A1		SNV			1				ENST00000397198	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391		S		T		4421/6524				A9LSU1_HUMAN			YES	COL4A1,synonymous_variant,p.=,ENST00000375820,NM_001845.4;COL4A1,non_coding_transcript_exon_variant,,ENST00000467182,;COL4A1,non_coding_transcript_exon_variant,,ENST00000474391,;							LOW	4299/5010		CO4A1_HUMAN			Transcript			.	ENSP00000364979		CCDS9511.1			1	
TRPA1	0	LGGM	GRCh37	8	72964973	72964973	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	120	17	.	.	ENST00000262209.4:c.1672G>T	p.Glu558Ter	p.E558*	ENST00000262209	NM_007332.2	558	Gaa/Taa	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		137	0		HGNC	p.E558X		TRPA1		SNV			1				ENST00000262209	protein_coding	getma.org/?cm=var&var=hg19,8,72964973,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		E/*		A	NA	1880/5223		NA					YES	TRPA1,stop_gained,p.Glu558Ter,ENST00000262209,NM_007332.2;TRPA1,stop_gained,p.Glu410Ter,ENST00000523582,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000537896,;RP11-383H13.1,downstream_gene_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000520788,;							HIGH	1672/3360	E558*	TRPA1_HUMAN			Transcript			.	ENSP00000262209		CCDS34908.1			1	
FAM65C	0	LGGM	GRCh37	20	49211978	49211978	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	55	18	.	.	ENST00000327979.2:c.1966C>A	p.Gln656Lys	p.Q656K	ENST00000327979		656	Caa/Aaa	0	1		UPI0000DA5AF4	0	NA	ENST00000045083		ENSG00000042062	16168		73	2.215		HGNC	p.Q656K		FAM65C		SNV							ENST00000327979	protein_coding	getma.org/?cm=var&var=hg19,20,49211978,G,T&fts=all		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF12		Q/K		T	medium	2284/4279		getma.org/?cm=msa&ty=f&p=FA65C_HUMAN&rb=601&re=800&var=Q656K	deleterious(0)					FAM65C,missense_variant,p.Gln656Lys,ENST00000327979,;FAM65C,missense_variant,p.Gln656Lys,ENST00000045083,NM_080829.2;FAM65C,missense_variant,p.Gln660Lys,ENST00000535356,;FAM65C,non_coding_transcript_exon_variant,,ENST00000488529,;FAM65C,upstream_gene_variant,,ENST00000482129,;FAM65C,downstream_gene_variant,,ENST00000462493,;							MODERATE	1966/2841	Q656K	FA65C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000045083		CCDS13431.2			1	
ARHGAP30	0	LGGM	GRCh37	1	161021293	161021293	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	31	18	.	.	ENST00000368013.3:c.1231C>A	p.His411Asn	p.H411N	ENST00000368013	NM_181720.2	411	Cac/Aac	0	1	1	UPI0000160677	0	NA	ENST00000368013		ENSG00000186517	27414		49	1.1		HGNC	p.H411N		ARHGAP30		SNV							ENST00000368013	protein_coding	getma.org/?cm=var&var=hg19,1,161021293,G,T&fts=all		hmmpanther:PTHR15729		H/N		T	low	1552/4394		getma.org/?cm=msa&ty=f&p=RHG30_HUMAN&rb=354&re=473&var=H411N	deleterious(0.02)				YES	ARHGAP30,missense_variant,p.His411Asn,ENST00000368013,NM_181720.2,NM_001025598.1;ARHGAP30,missense_variant,p.His234Asn,ENST00000368015,NM_001287602.1;ARHGAP30,missense_variant,p.His411Asn,ENST00000368016,;ARHGAP30,3_prime_UTR_variant,,ENST00000490279,;ARHGAP30,non_coding_transcript_exon_variant,,ENST00000461003,;ARHGAP30,downstream_gene_variant,,ENST00000368018,;ARHGAP30,downstream_gene_variant,,ENST00000471492,;							MODERATE	1231/3306	H411N	RHG30_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000356992		CCDS30918.1			1	
KCNH8	0	LGGM	GRCh37	3	19479666	19479666	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	147	18	.	.	ENST00000328405.2:c.1188T>A	p.His396Gln	p.H396Q	ENST00000328405	NM_144633.2	396	caT/caA	0	1	1	UPI0000167D12	0	getma.org/pdb.php?prot=KCNH8_HUMAN&from=259&to=469&var=H396Q	ENST00000328405		ENSG00000183960	18864		165	0.875		HGNC	p.H37Q		KCNH8		SNV							ENST00000537696	protein_coding	getma.org/?cm=var&var=hg19,3,19479666,T,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380		H/Q		A	low	1454/5137		getma.org/?cm=msa&ty=f&p=KCNH8_HUMAN&rb=259&re=469&var=H396Q	tolerated(0.33)				YES	KCNH8,missense_variant,p.His396Gln,ENST00000328405,NM_144633.2;KCNH8,missense_variant,p.His37Gln,ENST00000537696,;KCNH8,3_prime_UTR_variant,,ENST00000452398,;							MODERATE	1188/3324	H396Q	KCNH8_HUMAN			Transcript		benign(0.309)	.	ENSP00000328813		CCDS2632.1			1	
LAMB2	0	LGGM	GRCh37	3	49162713	49162713	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	94	21	.	.	ENST00000418109.1:c.2693A>G	p.Asp898Gly	p.D898G	ENST00000418109	NM_002292.3	898	gAt/gGt	0	1		UPI000013EA62	0	getma.org/pdb.php?prot=LAMB2_HUMAN&from=877&to=924&var=D898G	ENST00000305544		ENSG00000172037	6487		115	1.735		HGNC	p.D898G		LAMB2		SNV			1				ENST00000418109	protein_coding	getma.org/?cm=var&var=hg19,3,49162713,T,C&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196		D/G		C	low	2846/5643		getma.org/?cm=msa&ty=f&p=LAMB2_HUMAN&rb=877&re=924&var=D898G	tolerated(0.05)	F5H520_HUMAN				LAMB2,missense_variant,p.Asp898Gly,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Asp898Gly,ENST00000305544,;USP19,upstream_gene_variant,,ENST00000453664,NM_001199161.1,NM_001199162.1;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000434032,NM_001199160.1;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000398888,NM_006677.2;USP19,upstream_gene_variant,,ENST00000306026,;LAMB2,non_coding_transcript_exon_variant,,ENST00000464891,;LAMB2,intron_variant,,ENST00000486298,;USP19,upstream_gene_variant,,ENST00000488993,;USP19,upstream_gene_variant,,ENST00000491859,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,non_coding_transcript_exon_variant,,ENST00000483057,;LAMB2,non_coding_transcript_exon_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,downstream_gene_variant,,ENST00000493571,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,downstream_gene_variant,,ENST00000477701,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,downstream_gene_variant,,ENST00000488638,;							MODERATE	2693/5397	D898G	LAMB2_HUMAN			Transcript		benign(0.261)	.	ENSP00000307156		CCDS2789.1			1	
GCKR	0	LGGM	GRCh37	2	27745433	27745433	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H091920	H091920N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	71	23	.	.	ENST00000264717.2:c.1679A>G	p.His560Arg	p.H560R	ENST00000264717	NM_001486.3	560	cAt/cGt	0	1	1	UPI000013D55B	0	NA	ENST00000264717		ENSG00000084734	4196		94	1.935		HGNC	p.H370R		GCKR		SNV			1				ENST00000424318	protein_coding	getma.org/?cm=var&var=hg19,2,27745433,A,G&fts=all		hmmpanther:PTHR10088		H/R		G	medium	1742/2186		getma.org/?cm=msa&ty=f&p=GCKR_HUMAN&rb=401&re=600&var=H560R	deleterious(0.02)	F5H1P6_HUMAN			YES	GCKR,missense_variant,p.His560Arg,ENST00000264717,NM_001486.3;GCKR,missense_variant,p.His370Arg,ENST00000424318,;							MODERATE	1679/1878	H560R	GCKR_HUMAN			Transcript		benign(0.323)	.	ENSP00000264717		CCDS1757.1			1	
MFSD4	0	LGGM	GRCh37	1	205549807	205549807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	45	25	.	.	ENST00000367147.4:c.448G>A	p.Gly150Ser	p.G150S	ENST00000367147	NM_181644.4	150	Ggc/Agc	0	1	1	UPI000019855C	0	NA	ENST00000367147		ENSG00000174514	25433		70	2.6		HGNC	p.G150S		MFSD4		SNV							ENST00000539267	protein_coding	getma.org/?cm=var&var=hg19,1,205549807,G,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,hmmpanther:PTHR23121,hmmpanther:PTHR23121:SF10,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		G/S		A	medium	541/4095		getma.org/?cm=msa&ty=f&p=MFSD4_HUMAN&rb=21&re=446&var=G150S	deleterious(0)				YES	MFSD4,missense_variant,p.Gly150Ser,ENST00000367147,NM_181644.4;MFSD4,missense_variant,p.Gly150Ser,ENST00000539267,;MFSD4,intron_variant,,ENST00000536357,;MFSD4,non_coding_transcript_exon_variant,,ENST00000489709,;MFSD4,non_coding_transcript_exon_variant,,ENST00000475956,;							MODERATE	448/1545	G150S	MFSD4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356115		CCDS1455.1			1	
CTD-3074O7.11	0	LGGM	GRCh37	11	66278502	66278502	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	90	29	.	.	ENST00000318312.7:c.66G>A	p.Lys22=	p.K22=	ENST00000318312	NM_024649.4	22	aaG/aaA	0	1		UPI000006E494	0		ENST00000419755		ENSG00000256349			119			Clone_based_vega_gene	p.K22K		CTD-3074O7.11		SNV							ENST00000318312	protein_coding			Pfam_domain:PF14779,hmmpanther:PTHR20870,hmmpanther:PTHR20870:SF0		K		A		255/3547				E9PQD9_HUMAN,E9PPR3_HUMAN			YES	CTD-3074O7.11,synonymous_variant,p.=,ENST00000419755,;BBS1,synonymous_variant,p.=,ENST00000318312,NM_024649.4;BBS1,synonymous_variant,p.=,ENST00000393994,;BBS1,synonymous_variant,p.=,ENST00000455748,;BBS1,synonymous_variant,p.=,ENST00000525809,;BBS1,5_prime_UTR_variant,,ENST00000537537,;BBS1,5_prime_UTR_variant,,ENST00000526815,;BBS1,5_prime_UTR_variant,,ENST00000524705,;DPP3,downstream_gene_variant,,ENST00000532677,NM_130443.3,NM_005700.4,NM_001256670.1;DPP3,downstream_gene_variant,,ENST00000531863,;DPP3,downstream_gene_variant,,ENST00000360510,;DPP3,downstream_gene_variant,,ENST00000453114,;DPP3,downstream_gene_variant,,ENST00000541961,;DPP3,downstream_gene_variant,,ENST00000530165,;BBS1,non_coding_transcript_exon_variant,,ENST00000529766,;BBS1,upstream_gene_variant,,ENST00000529953,;DPP3,downstream_gene_variant,,ENST00000539085,;BBS1,synonymous_variant,p.=,ENST00000526760,;BBS1,synonymous_variant,p.=,ENST00000533557,;BBS1,synonymous_variant,p.=,ENST00000532908,;BBS1,synonymous_variant,p.=,ENST00000533644,;BBS1,synonymous_variant,p.=,ENST00000526035,;BBS1,5_prime_UTR_variant,,ENST00000527251,;BBS1,5_prime_UTR_variant,,ENST00000524458,;BBS1,non_coding_transcript_exon_variant,,ENST00000529955,;BBS1,non_coding_transcript_exon_variant,,ENST00000524907,;BBS1,non_coding_transcript_exon_variant,,ENST00000534730,;BBS1,upstream_gene_variant,,ENST00000533430,;BBS1,upstream_gene_variant,,ENST00000528543,;							LOW	177/1893					Transcript			.	ENSP00000398526					1	
PRKD1	0	LGGM	GRCh37	14	30103682	30103682	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	91	32	.	.	ENST00000331968.5:c.1256A>G	p.Lys419Arg	p.K419R	ENST00000331968	NM_002742.2	419	aAa/aGa	0	1	1	UPI0000456761	0	NA	ENST00000331968		ENSG00000184304	9407		123	-0.045		HGNC	p.K419R		PRKD1		SNV			1				ENST00000331968	protein_coding	getma.org/?cm=var&var=hg19,14,30103682,T,C&fts=all		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968		K/R		C	neutral	1486/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=381&re=442&var=K419R	tolerated(1)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Lys419Arg,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Lys427Arg,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000546371,;PRKD1,downstream_gene_variant,,ENST00000551644,;PRKD1,downstream_gene_variant,,ENST00000547441,;PRKD1,downstream_gene_variant,,ENST00000468370,;							MODERATE	1256/2739	K419R	KPCD1_HUMAN			Transcript		benign(0.005)	.	ENSP00000333568		CCDS9637.1			1	
TANC2	0	LGGM	GRCh37	17	61483618	61483618	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H091920	H091920N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	152	40	.	.	ENST00000424789.2:c.3347T>G	p.Val1116Gly	p.V1116G	ENST00000424789	NM_025185.3	1116	gTg/gGg	0	1	1	UPI00015D57DF	0	getma.org/pdb.php?prot=TANC2_HUMAN&from=1071&to=1163&var=V1116G	ENST00000424789		ENSG00000170921	30212		192	3.75		HGNC	p.V1116G		TANC2		SNV							ENST00000424789	protein_coding	getma.org/?cm=var&var=hg19,17,61483618,T,G&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24166:SF21,hmmpanther:PTHR24166,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		V/G		G	high	3351/11721		getma.org/?cm=msa&ty=f&p=TANC2_HUMAN&rb=1071&re=1163&var=V1116G	deleterious(0)				YES	TANC2,missense_variant,p.Val1116Gly,ENST00000424789,NM_025185.3;TANC2,missense_variant,p.Val1045Gly,ENST00000583356,;TANC2,missense_variant,p.Val1116Gly,ENST00000389520,;RP11-269G24.3,intron_variant,,ENST00000583552,;AC015923.1,intron_variant,,ENST00000431604,;							MODERATE	3347/5973	V1116G	TANC2_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000387593		CCDS45754.1			1	
PRUNE2	0	LGGM	GRCh37	9	79267468	79267468	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091920	H091920N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	292	55	.	.	ENST00000376718.3:c.8488G>A	p.Glu2830Lys	p.E2830K	ENST00000376718	NM_015225.2	2830	Gaa/Aaa	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		347	1.59		HGNC	p.E2830K		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79267468,C,T&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Pfam_domain:PF12496		E/K		T	low	8612/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=2797&re=2915&var=E2830K	deleterious(0)				YES	PRUNE2,missense_variant,p.Glu2471Lys,ENST00000428286,;PRUNE2,missense_variant,p.Glu2830Lys,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Glu2152Lys,ENST00000426088,;PRUNE2,missense_variant,p.Glu94Lys,ENST00000376717,;PRUNE2,missense_variant,p.Glu79Lys,ENST00000443509,;PRUNE2,missense_variant,p.Glu94Lys,ENST00000223609,;PRUNE2,upstream_gene_variant,,ENST00000424866,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000466266,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000480674,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000488346,;							MODERATE	8488/9267	E2830K	PRUN2_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000365908		CCDS47982.1			1	
OR2M3	0	LGGM	GRCh37	1	248366977	248366977	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H091920	H091920N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091920N.bam, H091920T.bam	Illumina HiSeq	185	107	.	.	ENST00000456743.1:c.608G>C	p.Cys203Ser	p.C203S	ENST00000456743	NM_001004689.1	203	tGt/tCt	0	1	1	UPI000004B234	0	NA	ENST00000456743		ENSG00000228198	8269		292	0.25		HGNC	p.C203S		OR2M3		SNV							ENST00000456743	protein_coding	getma.org/?cm=var&var=hg19,1,248366977,G,C&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		C/S		C	neutral	646/1061		getma.org/?cm=msa&ty=f&p=OR2M3_HUMAN&rb=139&re=283&var=C203S	deleterious(0.03)				YES	OR2M3,missense_variant,p.Cys203Ser,ENST00000456743,NM_001004689.1;							MODERATE	608/939	C203S	OR2M3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000389625		CCDS31107.1			1	
PPM1N	0	LGGM	GRCh37	19	46003299	46003299	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	10	2	.	.	ENST00000451287.2:c.1032C>A	p.Asp344Glu	p.D344E	ENST00000451287	NM_001080401.1	344	gaC/gaA	0	1	1	UPI0000DD84FC	0	getma.org/pdb.php?prot=PPM1N_HUMAN&from=320&to=398&var=D344E	ENST00000451287		ENSG00000213889	26845		12	0.6		HGNC	p.D26E		PPM1N		SNV							ENST00000396735	protein_coding	getma.org/?cm=var&var=hg19,19,46003299,C,A&fts=all		hmmpanther:PTHR13832:SF243,hmmpanther:PTHR13832,Gene3D:1a6qA02,Pfam_domain:PF07830,Superfamily_domains:0034913		D/E		A	neutral	1032/1293		getma.org/?cm=msa&ty=f&p=PPM1N_HUMAN&rb=320&re=398&var=D344E	tolerated(0.38)				YES	PPM1N,missense_variant,p.Asp344Glu,ENST00000451287,NM_001080401.1;PPM1N,missense_variant,p.Asp26Glu,ENST00000396735,;PPM1N,missense_variant,p.Asp26Glu,ENST00000396737,;PPM1N,missense_variant,p.Asp26Glu,ENST00000401705,;PPM1N,missense_variant,p.Asp26Glu,ENST00000456399,;PPM1N,missense_variant,p.Asp26Glu,ENST00000401593,;PPM1N,missense_variant,p.Asp26Glu,ENST00000396736,;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;RTN2,upstream_gene_variant,,ENST00000589384,;PPM1N,3_prime_UTR_variant,,ENST00000415077,;RTN2,upstream_gene_variant,,ENST00000587597,;RTN2,upstream_gene_variant,,ENST00000591286,;							MODERATE	1032/1293	D344E	PPM1N_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000397050		CCDS46115.1			1	
SYN1	0	LGGM	GRCh37	X	47435972	47435972	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091972	H091972N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	38	3	.	.	ENST00000295987.7:c.905C>T	p.Ala302Val	p.A302V	ENST00000295987	NM_006950.3	302	gCc/gTc	0	1	1	UPI0000167B47	0	getma.org/pdb.php?prot=SYN1_HUMAN&from=214&to=416&var=A302V	ENST00000295987		ENSG00000008056	11494		41	1.27		HGNC	p.A302V		SYN1		SNV			1				ENST00000295987	protein_coding	getma.org/?cm=var&var=hg19,X,47435972,G,A&fts=all		Gene3D:3.30.470.20,Pfam_domain:PF02750,hmmpanther:PTHR10841,hmmpanther:PTHR10841:SF8,Superfamily_domains:SSF56059		A/V		A	low	1030/3203		getma.org/?cm=msa&ty=f&p=SYN1_HUMAN&rb=214&re=416&var=A302V	tolerated(0.1)				YES	SYN1,missense_variant,p.Ala302Val,ENST00000295987,NM_006950.3;SYN1,missense_variant,p.Ala302Val,ENST00000340666,NM_133499.2;ARAF,downstream_gene_variant,,ENST00000377045,NM_001654.4,NM_001256196.1;ARAF,downstream_gene_variant,,ENST00000470206,;							MODERATE	905/2118	A302V	SYN1_HUMAN			Transcript		benign(0.025)	.	ENSP00000295987		CCDS14280.1			1	
PRPF8	0	LGGM	GRCh37	17	1586955	1586955	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H091972	H091972N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	39	3	.	.	ENST00000572621.1:c.141A>G	p.Glu47=	p.E47=	ENST00000572621		47	gaA/gaG	0	1		UPI000006F2DD	0		ENST00000304992		ENSG00000174231	17340		42			HGNC	p.E47E		PRPF8		SNV			1				ENST00000304992	protein_coding			hmmpanther:PTHR11140,hmmpanther:PTHR11140:SF0		E		C		255/7295								PRPF8,synonymous_variant,p.=,ENST00000572621,;PRPF8,synonymous_variant,p.=,ENST00000304992,NM_006445.3;PRPF8,synonymous_variant,p.=,ENST00000577001,;PRPF8,non_coding_transcript_exon_variant,,ENST00000571346,;PRPF8,upstream_gene_variant,,ENST00000573716,;PRPF8,upstream_gene_variant,,ENST00000574728,;							LOW	141/7008		PRP8_HUMAN			Transcript			.	ENSP00000304350		CCDS11010.1			1	
ZFYVE26	0	LGGM	GRCh37	14	68233079	68233079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	39	3	.	.	ENST00000347230.4:c.5876G>T	p.Cys1959Phe	p.C1959F	ENST00000347230	NM_015346.3	1959	tGc/tTc	0	1	1	UPI00001FD735	0	NA	ENST00000347230		ENSG00000072121	20761		42	1.245		HGNC	p.C1959F		ZFYVE26		SNV			1				ENST00000555452	protein_coding	getma.org/?cm=var&var=hg19,14,68233079,C,A&fts=all		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF115		C/F		A	low	6015/9675		getma.org/?cm=msa&ty=f&p=ZFY26_HUMAN&rb=1901&re=2519&var=C1959F	tolerated(0.05)				YES	ZFYVE26,missense_variant,p.Cys1959Phe,ENST00000347230,NM_015346.3;ZFYVE26,missense_variant,p.Cys1959Phe,ENST00000555452,;ZFYVE26,upstream_gene_variant,,ENST00000557306,;ZFYVE26,3_prime_UTR_variant,,ENST00000554557,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000554523,;ZFYVE26,non_coding_transcript_exon_variant,,ENST00000394455,;							MODERATE	5876/7620	C1959F	ZFY26_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000251119		CCDS9788.1			1	
RPN1	0	LGGM	GRCh37	3	128348877	128348877	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091972	H091972N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	41	3	.	.	ENST00000296255.3:c.953C>A	p.Pro318His	p.P318H	ENST00000296255	NM_002950.3	318	cCt/cAt	0	1	1	UPI00001338BA	0	NA	ENST00000296255		ENSG00000163902	10381		44	3.42		HGNC	p.P318H		RPN1		SNV			1				ENST00000296255	protein_coding	getma.org/?cm=var&var=hg19,3,128348877,G,T&fts=all		Pfam_domain:PF04597,hmmpanther:PTHR21049,hmmpanther:PTHR21049:SF0		P/H		T	medium	1002/2310		getma.org/?cm=msa&ty=f&p=RPN1_HUMAN&rb=30&re=458&var=P318H	deleterious(0)	Q96HX3_HUMAN,B7Z4L4_HUMAN,B4DNJ5_HUMAN			YES	RPN1,missense_variant,p.Pro318His,ENST00000296255,NM_002950.3;RPN1,missense_variant,p.Pro146His,ENST00000497289,;RPN1,upstream_gene_variant,,ENST00000490166,;RPN1,downstream_gene_variant,,ENST00000495462,;							MODERATE	953/1824	P318H	RPN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296255		CCDS3051.1			1	
SELPLG	0	LGGM	GRCh37	12	109017818	109017818	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	26	3	.	.	ENST00000228463.6:c.314G>T	p.Arg105Leu	p.R105L	ENST00000228463	NM_001206609.1	105	cGt/cTt	0	1		UPI0000135861	0	NA	ENST00000550948		ENSG00000110876	10722		29	0		HGNC	p.R89L		SELPLG		SNV							ENST00000550948	protein_coding	getma.org/?cm=var&var=hg19,12,109017818,C,A&fts=all		hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0		R/L		A	neutral	491/2256		getma.org/?cm=msa&ty=f&p=SELPL_HUMAN&rb=1&re=100&var=R89L	tolerated(0.07)	B4DT54_HUMAN				SELPLG,missense_variant,p.Arg89Leu,ENST00000388962,NM_003006.4;SELPLG,missense_variant,p.Arg89Leu,ENST00000550948,;SELPLG,missense_variant,p.Arg105Leu,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;							MODERATE	266/1239	R89L	SELPL_HUMAN			Transcript		unknown(0)	.	ENSP00000447752		CCDS31895.2			1	
FAM230A	0	LGGM	GRCh37	22	20710823	20710823	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	15	4	.	.	ENST00000434783.3:c.2555C>T	p.Ser852Leu	p.S852L	ENST00000434783		852	tCg/tTg	0	1	1	UPI000268B488	0		ENST00000434783		ENSG00000188280	45045		19			HGNC	p.S852L	rs368526546	FAM230A		SNV							ENST00000434783	protein_coding			hmmpanther:PTHR22534		S/L		T		2739/8854				J3QLJ4_HUMAN			YES	FAM230A,missense_variant,p.Ser852Leu,ENST00000434783,;USP41,intron_variant,,ENST00000454608,;FAM230A,downstream_gene_variant,,ENST00000583722,;USP41,intron_variant,,ENST00000486536,;							MODERATE	2555/2718					Transcript		unknown(0)	.	ENSP00000463576					1	
KPNA6	0	LGGM	GRCh37	1	32632885	32632885	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	85	4	.	.	ENST00000373625.3:c.1232C>A	p.Pro411His	p.P411H	ENST00000373625	NM_012316.4	411	cCt/cAt	0	1	1	UPI000006D3B6	0	getma.org/pdb.php?prot=IMA7_HUMAN&from=410&to=450&var=P411H	ENST00000373625		ENSG00000025800	6399		89	1.285		HGNC	p.P408H		KPNA6		SNV							ENST00000537234	protein_coding	getma.org/?cm=var&var=hg19,1,32632885,C,A&fts=all		hmmpanther:PTHR23316:SF8,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,PIRSF_domain:PIRSF005673,SMART_domains:SM00185,Superfamily_domains:SSF48371		P/H		A	low	1325/7378		getma.org/?cm=msa&ty=f&p=IMA7_HUMAN&rb=410&re=450&var=P411H	tolerated(0.41)	G1UI19_HUMAN,F5H4G7_HUMAN			YES	KPNA6,missense_variant,p.Pro411His,ENST00000373625,NM_012316.4;KPNA6,missense_variant,p.Pro408His,ENST00000537234,;KPNA6,missense_variant,p.Pro416His,ENST00000545542,;KPNA6,missense_variant,p.Pro318His,ENST00000446515,;RP4-622L5.2,upstream_gene_variant,,ENST00000515055,;KPNA6,downstream_gene_variant,,ENST00000469790,;KPNA6,3_prime_UTR_variant,,ENST00000471599,;							MODERATE	1232/1611	P411H	IMA7_HUMAN			Transcript		benign(0.022)	.	ENSP00000362728		CCDS352.1			1	
MADCAM1	0	LGGM	GRCh37	19	501738	501739	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	novel	by Submitter	H091972	H091972N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	6	4	.	.	ENST00000215637.3:c.784_785insAGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC	p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer	p.S261_P262insQESPDTTSQEPPDTTS	ENST00000215637	NM_130760.2	246	ccg/ccGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAg	0	1	1	UPI000013C68F	0		ENST00000215637		ENSG00000099866	6765		10			HGNC	p.P246delinsPESPDTTSQEPPDTTSQ	rs770954228	MADCAM1		insertion	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.9059						ENST00000215637	protein_coding			hmmpanther:PTHR14162,hmmpanther:PTHR14162:SF0,Low_complexity_(Seg):seg		P/PESPDTTSQEPPDTTSQ	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.8072	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA		783-784/1577				B9EGE2_HUMAN			YES	MADCAM1,inframe_insertion,p.Ser42_Pro43insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000587541,;MADCAM1,inframe_insertion,p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000215637,NM_130760.2;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.2,intron_variant,,ENST00000592413,;							MODERATE	737-738/1149		MADCA_HUMAN			Transcript	47		.	ENSP00000215637		CCDS12028.1			1	
KIAA1755	0	LGGM	GRCh37	20	36870239	36870239	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H091972	H091972N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	54	4	.	.	ENST00000279024.4:c.294C>G	p.Leu98=	p.L98=	ENST00000279024	NM_001029864.1	98	ctC/ctG	0	1	1	UPI000041AADF	0		ENST00000279024		ENSG00000149633	29372		58			HGNC	p.L98L		KIAA1755		SNV							ENST00000279024	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF114		L		C		566/6429							YES	KIAA1755,synonymous_variant,p.=,ENST00000279024,NM_001029864.1;KIAA1755,non_coding_transcript_exon_variant,,ENST00000496900,;							LOW	294/3603		K1755_HUMAN			Transcript			.	ENSP00000279024		CCDS33467.1			1	
VSIG4	0	LGGM	GRCh37	X	65242296	65242296	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	35	4	.	.	ENST00000374737.4:c.1009G>A	p.Ala337Thr	p.A337T	ENST00000374737	NM_001257403.1	337	Gcc/Acc	0	1	1	UPI000006F146	0	NA	ENST00000374737		ENSG00000155659	17032		39	0.57		HGNC	p.A337T		VSIG4		SNV							ENST00000374737	protein_coding	getma.org/?cm=var&var=hg19,X,65242296,C,T&fts=all		hmmpanther:PTHR15466,hmmpanther:PTHR15466:SF1		A/T		T	neutral	1118/1834		getma.org/?cm=msa&ty=f&p=VSIG4_HUMAN&rb=215&re=399&var=A337T	tolerated(0.31)				YES	VSIG4,missense_variant,p.Ala337Thr,ENST00000374737,NM_001257403.1,NM_007268.2;VSIG4,missense_variant,p.Ala243Thr,ENST00000412866,NM_001100431.1,NM_001184831.1;VSIG4,3_prime_UTR_variant,,ENST00000455586,NM_001184830.1;VSIG4,intron_variant,,ENST00000427538,;MIR223,downstream_gene_variant,,ENST00000385204,;							MODERATE	1009/1200	A337T	VSIG4_HUMAN			Transcript		benign(0.005)	.	ENSP00000363869		CCDS14383.1			1	
FAM230A	0	LGGM	GRCh37	22	20710820	20710820	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H091972	H091972N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	16	4	.	.	ENST00000434783.3:c.2552C>T	p.Ala851Val	p.A851V	ENST00000434783		851	gCg/gTg	0	1	1	UPI000268B488	0		ENST00000434783		ENSG00000188280	45045		20			HGNC	p.A851V	rs374455033	FAM230A	0.00136	SNV				0.00217			ENST00000434783	protein_coding			hmmpanther:PTHR22534		A/V		T		2736/8854	0.00222			J3QLJ4_HUMAN			YES	FAM230A,missense_variant,p.Ala851Val,ENST00000434783,;USP41,intron_variant,,ENST00000454608,;FAM230A,downstream_gene_variant,,ENST00000583722,;USP41,intron_variant,,ENST00000486536,;							MODERATE	2552/2718					Transcript		unknown(0)	common_variant	ENSP00000463576	0.00086				1	
MGAM	0	LGGM	GRCh37	7	141719116	141719116	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H091972	H091972N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091972N.bam, H091972T.bam	Illumina HiSeq	98	5	.	.	ENST00000549489.2:c.445G>T	p.Ala149Ser	p.A149S	ENST00000549489	NM_004668.2	149	Gca/Tca	0	1	1	UPI000183CB7B	0	getma.org/pdb.php?prot=MGA_HUMAN&from=134&to=333&var=A149S	ENST00000549489		ENSG00000257335	7043		103	-0.095		HGNC	p.A149S		MGAM		SNV							ENST00000465654	protein_coding	getma.org/?cm=var&var=hg19,7,141719116,G,T&fts=all		Superfamily_domains:SSF74650,hmmpanther:PTHR22762:SF63,hmmpanther:PTHR22762		A/S		T	neutral	540/6525		getma.org/?cm=msa&ty=f&p=MGA_HUMAN&rb=134&re=333&var=A149S	tolerated(0.41)	Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Ala149Ser,ENST00000475668,;MGAM,missense_variant,p.Ala149Ser,ENST00000549489,NM_004668.2;MGAM,missense_variant,p.Ala149Ser,ENST00000465654,;MGAM,downstream_gene_variant,,ENST00000497673,;							MODERATE	445/5574	A149S	MGA_HUMAN			Transcript		benign(0.324)	.	ENSP00000447378		CCDS47727.1			1	
SBNO2	0	LGGM	GRCh37	19	1111994	1111994	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	1	2	.	.	ENST00000361757.3:c.2700+1G>T		p.X900_splice	ENST00000361757	NM_014963.2			0	1	1	UPI0000140680	0		ENST00000361757		ENSG00000064932	29158		3			HGNC	-		SBNO2		SNV							ENST00000361757	protein_coding							A		-/4922				K7ERL2_HUMAN,K7ENA9_HUMAN			YES	SBNO2,splice_donor_variant,,ENST00000361757,NM_014963.2;SBNO2,splice_donor_variant,,ENST00000587024,;SBNO2,splice_donor_variant,,ENST00000438103,NM_001100122.1;SBNO2,downstream_gene_variant,,ENST00000592222,;SBNO2,upstream_gene_variant,,ENST00000587673,;SBNO2,upstream_gene_variant,,ENST00000586109,;							HIGH	2700/4101		SBNO2_HUMAN			Transcript			.	ENSP00000354733		CCDS45894.1			1	
PCDHB10	0	LGGM	GRCh37	5	140573985	140573985	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	6	2	.	.	ENST00000239446.4:c.1860C>A	p.His620Gln	p.H620Q	ENST00000239446	NM_018930.3	620	caC/caA	0	1	1	UPI0000048F2E	0	getma.org/pdb.php?prot=PCDBA_HUMAN&from=575&to=663&var=H620Q	ENST00000239446		ENSG00000120324	8681		8	0.165		HGNC	p.H620Q		PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140573985,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		H/Q		A	neutral	2044/3274		getma.org/?cm=msa&ty=f&p=PCDBA_HUMAN&rb=575&re=663&var=H620Q	deleterious_low_confidence(0.01)	O95883_HUMAN			YES	PCDHB10,missense_variant,p.His620Gln,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							MODERATE	1860/2403	H620Q	PCDBA_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000239446		CCDS4252.1			1	
LCAT	0	LGGM	GRCh37	16	67974344	67974344	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	5	2	.	.	ENST00000264005.5:c.786G>T	p.Lys262Asn	p.K262N	ENST00000264005	NM_000229.1	262	aaG/aaT	0	1	1	UPI0000000DE7	0	NA	ENST00000264005		ENSG00000213398	6522		7	2.205		HGNC	p.K190N		LCAT		SNV			1				ENST00000570980	protein_coding	getma.org/?cm=var&var=hg19,16,67974344,C,A&fts=all		hmmpanther:PTHR11440,hmmpanther:PTHR11440:SF18,Pfam_domain:PF02450,Superfamily_domains:SSF53474		K/N		A	medium	816/1507		getma.org/?cm=msa&ty=f&p=LCAT_HUMAN&rb=81&re=408&var=K262N	deleterious(0.04)	J3QSE5_HUMAN			YES	LCAT,missense_variant,p.Lys262Asn,ENST00000264005,NM_000229.1;LCAT,missense_variant,p.Lys190Asn,ENST00000570980,;LCAT,intron_variant,,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;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,;							MODERATE	786/1323	K262N	LCAT_HUMAN			Transcript		benign(0.024)	.	ENSP00000264005		CCDS10854.1			1	
KIF26A	0	LGGM	GRCh37	14	104642487	104642487	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	3	2	.	.	ENST00000423312.2:c.3362C>A	p.Thr1121Asn	p.T1121N	ENST00000423312	NM_015656.1	1121	aCt/aAt	0	1	1	UPI00006C145D	0	NA	ENST00000423312		ENSG00000066735	20226		5	1.245		HGNC	p.T982N		KIF26A		SNV							ENST00000315264	protein_coding	getma.org/?cm=var&var=hg19,14,104642487,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407		T/N		A	low	3362/5649		getma.org/?cm=msa&ty=f&p=KI26A_HUMAN&rb=971&re=1539&var=T1121N	tolerated(0.05)	C9JFF0_HUMAN			YES	KIF26A,missense_variant,p.Thr982Asn,ENST00000315264,;KIF26A,missense_variant,p.Thr1121Asn,ENST00000423312,NM_015656.1;							MODERATE	3362/5649	T1121N	KI26A_HUMAN			Transcript		benign(0.039)	.	ENSP00000388241		CCDS45171.1			1	
PIK3CD	0	LGGM	GRCh37	1	9778972	9778972	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	11	2	.	.	ENST00000377346.4:c.1241C>A	p.Ala414Glu	p.A414E	ENST00000377346	NM_005026.3	414	gCg/gAg	0	1	1	UPI000013E807	0	getma.org/pdb.php?prot=PK3CD_HUMAN&from=337&to=472&var=A414E	ENST00000377346		ENSG00000171608	8977		13	0.175		HGNC	p.A414E		PIK3CD		SNV			1				ENST00000377346	protein_coding	getma.org/?cm=var&var=hg19,1,9778972,C,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Pfam_domain:PF00792,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		A/E		A	neutral	1436/5203		getma.org/?cm=msa&ty=f&p=PK3CD_HUMAN&rb=337&re=472&var=A414E	tolerated(0.42)	B7ZM44_HUMAN			YES	PIK3CD,missense_variant,p.Ala379Glu,ENST00000536656,;PIK3CD,missense_variant,p.Ala414Glu,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Ala379Glu,ENST00000361110,;PIK3CD,missense_variant,p.Ala81Glu,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;PIK3CD,downstream_gene_variant,,ENST00000481137,;							MODERATE	1241/3135	A414E	PK3CD_HUMAN			Transcript		benign(0.306)	.	ENSP00000366563		CCDS104.1			1	
OCA2	0	LGGM	GRCh37	15	28259938	28259938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	6	2	.	.	ENST00000354638.3:c.1028C>A	p.Ala343Glu	p.A343E	ENST00000354638	NM_000275.2	343	gCg/gAg	0	1	1	UPI000013D158	0	NA	ENST00000354638		ENSG00000104044	8101		8	2.195		HGNC	p.A343E		OCA2		SNV			1				ENST00000354638	protein_coding	getma.org/?cm=var&var=hg19,15,28259938,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF67,Pfam_domain:PF03600		A/E		T	medium	1184/3186		getma.org/?cm=msa&ty=f&p=P_HUMAN&rb=338&re=757&var=A343E	deleterious(0)	C9JDV3_HUMAN			YES	OCA2,missense_variant,p.Ala343Glu,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Ala343Glu,ENST00000353809,;OCA2,missense_variant,p.Ala343Glu,ENST00000382996,;OCA2,downstream_gene_variant,,ENST00000431101,;OCA2,downstream_gene_variant,,ENST00000445578,;							MODERATE	1028/2517	A343E	P_HUMAN			Transcript		benign(0.313)	.	ENSP00000346659		CCDS10020.1			1	
ALS2CL	0	LGGM	GRCh37	3	46727129	46727129	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	5	2	.	.	ENST00000318962.4:c.672G>T	p.Val224=	p.V224=	ENST00000318962	NM_147129.3	224	gtG/gtT	0	1	1	UPI00001B5641	0		ENST00000318962		ENSG00000178038	20605		7			HGNC	p.V224V		ALS2CL		SNV							ENST00000431015	protein_coding			hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114		V		A		756/4741				G3V0I7_HUMAN			YES	ALS2CL,synonymous_variant,p.=,ENST00000318962,NM_147129.3;ALS2CL,synonymous_variant,p.=,ENST00000415953,NM_001190707.1;ALS2CL,synonymous_variant,p.=,ENST00000450172,;ALS2CL,synonymous_variant,p.=,ENST00000431015,;ALS2CL,synonymous_variant,p.=,ENST00000423707,;ALS2CL,synonymous_variant,p.=,ENST00000434140,;							LOW	672/2862		AL2CL_HUMAN			Transcript			.	ENSP00000313670		CCDS2743.1			1	
DHX33	0	LGGM	GRCh37	17	5365657	5365657	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	11	2	.	.	ENST00000225296.3:c.660C>A	p.Leu220=	p.L220=	ENST00000225296	NM_001199699.1	220	ctC/ctA	0	1	1	UPI000013C861	0		ENST00000225296		ENSG00000005100	16718		13			HGNC	p.L220L		DHX33		SNV							ENST00000225296	protein_coding			PROSITE_profiles:PS51192,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF96,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540		L		T		861/5618							YES	DHX33,synonymous_variant,p.=,ENST00000225296,NM_001199699.1,NM_020162.3;DHX33,synonymous_variant,p.=,ENST00000572490,;DHX33,intron_variant,,ENST00000433302,;DHX33,3_prime_UTR_variant,,ENST00000574023,;DHX33,upstream_gene_variant,,ENST00000575153,;							LOW	660/2124		DHX33_HUMAN			Transcript			.	ENSP00000225296		CCDS11072.1			1	
DNAH1	0	LGGM	GRCh37	3	52420744	52420744	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	9	2	.	.	ENST00000420323.2:c.8878G>A	p.Gly2960Ser	p.G2960S	ENST00000420323	NM_015512.4	2960	Ggc/Agc	0	1	1	UPI0001AE79D6	0	getma.org/pdb.php?prot=DYH1_HUMAN&from=2830&to=3136&var=G2960S	ENST00000420323		ENSG00000114841	2940		11	1.955		HGNC	p.G2960S		DNAH1		SNV			1				ENST00000420323	protein_coding	getma.org/?cm=var&var=hg19,3,52420744,G,A&fts=all		Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137		G/S		A	medium	9139/13104		getma.org/?cm=msa&ty=f&p=DYH1_HUMAN&rb=2830&re=3136&var=G2960S					YES	DNAH1,missense_variant,p.Gly2960Ser,ENST00000420323,NM_015512.4;DNAH1,upstream_gene_variant,,ENST00000480649,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000488988,;DNAH1,upstream_gene_variant,,ENST00000490713,;							MODERATE	8878/12798	G2960S	DYH1_HUMAN			Transcript		benign(0.165)	.	ENSP00000401514		CCDS46842.1			1	
STT3B	0	LGGM	GRCh37	3	31574542	31574542	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	6	2	.	.	ENST00000295770.2:c.52T>C	p.Ser18Pro	p.S18P	ENST00000295770	NM_178862.1	18	Tcc/Ccc	0	1	1	UPI000006D7FB	0	NA	ENST00000295770		ENSG00000163527	30611		8	0		HGNC	p.S18P		STT3B		SNV			1				ENST00000295770	protein_coding	getma.org/?cm=var&var=hg19,3,31574542,T,C&fts=all				S/P		C	neutral	261/4246		getma.org/?cm=msa&ty=f&p=STT3B_HUMAN&rb=1&re=70&var=S18P	tolerated_low_confidence(0.25)				YES	STT3B,missense_variant,p.Ser18Pro,ENST00000295770,NM_178862.1;STT3B,non_coding_transcript_exon_variant,,ENST00000453168,;STT3B,non_coding_transcript_exon_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000462235,;							MODERATE	52/2481	S18P	STT3B_HUMAN			Transcript		benign(0)	.	ENSP00000295770		CCDS2650.1			1	
KIAA1755	0	LGGM	GRCh37	20	36846675	36846675	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	14	2	.	.	ENST00000279024.4:c.2650G>C	p.Glu884Gln	p.E884Q	ENST00000279024	NM_001029864.1	884	Gaa/Caa	0	1	1	UPI000041AADF	0	NA	ENST00000279024		ENSG00000149633	29372		16	0.345		HGNC	p.E884Q		KIAA1755		SNV							ENST00000279024	protein_coding	getma.org/?cm=var&var=hg19,20,36846675,C,G&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF114		E/Q		G	neutral	2922/6429		getma.org/?cm=msa&ty=f&p=K1755_HUMAN&rb=717&re=916&var=E884Q	tolerated(0.25)				YES	KIAA1755,missense_variant,p.Glu884Gln,ENST00000279024,NM_001029864.1;KIAA1755,missense_variant,p.Glu183Gln,ENST00000435901,;KIAA1755,non_coding_transcript_exon_variant,,ENST00000484362,;KIAA1755,upstream_gene_variant,,ENST00000460881,;KIAA1755,upstream_gene_variant,,ENST00000487506,;							MODERATE	2650/3603	E884Q	K1755_HUMAN			Transcript		benign(0.372)	.	ENSP00000279024		CCDS33467.1			1	
PAOX	0	LGGM	GRCh37	10	135193558	135193558	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	2	2	.	.	ENST00000278060.5:c.237C>A	p.Pro79=	p.P79=	ENST00000278060	NM_152911.2	79	ccC/ccA	0	1	1	UPI000000D787	0		ENST00000278060		ENSG00000148832	20837		4			HGNC	p.P79P		PAOX		SNV							ENST00000278060	protein_coding			hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF43,Pfam_domain:PF01593,Gene3D:3.40.50.720,Superfamily_domains:SSF51905		P		A		320/1858				D3DXI4_HUMAN,B0QZA9_HUMAN			YES	PAOX,synonymous_variant,p.=,ENST00000278060,NM_152911.2;PAOX,synonymous_variant,p.=,ENST00000357296,NM_207128.1;PAOX,synonymous_variant,p.=,ENST00000480071,NM_207127.1;PAOX,intron_variant,,ENST00000368539,;AL360181.1,upstream_gene_variant,,ENST00000597657,;PAOX,non_coding_transcript_exon_variant,,ENST00000368535,;PAOX,non_coding_transcript_exon_variant,,ENST00000528127,;PAOX,synonymous_variant,p.=,ENST00000356306,;PAOX,intron_variant,,ENST00000476834,;PAOX,intron_variant,,ENST00000483211,;PAOX,intron_variant,,ENST00000529585,;							LOW	237/1536		PAOX_HUMAN			Transcript			.	ENSP00000278060		CCDS7683.1			1	
CPNE7	0	LGGM	GRCh37	16	89661885	89661885	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	10	2	.	.	ENST00000268720.5:c.1638C>G	p.Gly546=	p.G546=	ENST00000268720	NM_014427.4	546	ggC/ggG	0	1	1	UPI0000127C17	0		ENST00000268720		ENSG00000178773	2320		12			HGNC	p.R75G		CPNE7		SNV							ENST00000568977	protein_coding			PROSITE_profiles:PS50234,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF6,Pfam_domain:PF07002,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		G		G		1768/2657							YES	CPNE7,synonymous_variant,p.=,ENST00000268720,NM_014427.4;CPNE7,synonymous_variant,p.=,ENST00000319518,NM_153636.2;CPNE7,downstream_gene_variant,,ENST00000529800,;CPNE7,upstream_gene_variant,,ENST00000526232,;CPNE7,non_coding_transcript_exon_variant,,ENST00000566398,;CPNE7,upstream_gene_variant,,ENST00000564421,;CPNE7,missense_variant,p.Arg75Gly,ENST00000568977,;							LOW	1638/1902		CPNE7_HUMAN			Transcript			.	ENSP00000268720		CCDS10980.1			1	
LAMC3	0	LGGM	GRCh37	9	133901902	133901902	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	4	2	.	.	ENST00000361069.4:c.604G>T	p.Gly202Cys	p.G202C	ENST00000361069	NM_006059.3	202	Ggc/Tgc	0	1	1	UPI000013D6D3	0	getma.org/pdb.php?prot=LAMC3_HUMAN&from=35&to=269&var=G202C	ENST00000361069		ENSG00000050555	6494		6	3.37		HGNC	p.G202C		LAMC3		SNV			1				ENST00000361069	protein_coding	getma.org/?cm=var&var=hg19,9,133901902,G,T&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00136		G/C		T	medium	737/6133		getma.org/?cm=msa&ty=f&p=LAMC3_HUMAN&rb=35&re=269&var=G202C	deleterious(0)	Q5JTC4_HUMAN			YES	LAMC3,missense_variant,p.Gly202Cys,ENST00000361069,NM_006059.3;LAMC3,non_coding_transcript_exon_variant,,ENST00000480883,;							MODERATE	604/4728	G202C	LAMC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354360		CCDS6938.1			1	
BRAT1	0	LGGM	GRCh37	7	2581756	2581756	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	5	2	.	.	ENST00000340611.4:c.1013C>A	p.Pro338Gln	p.P338Q	ENST00000340611	NM_152743.3	338	cCa/cAa	0	1	1	UPI00001AEB20	0	NA	ENST00000340611		ENSG00000106009	21701		7	1.935		HGNC	p.P338Q		BRAT1		SNV			1				ENST00000340611	protein_coding	getma.org/?cm=var&var=hg19,7,2581756,G,T&fts=all		hmmpanther:PTHR21331,hmmpanther:PTHR21331:SF1,Superfamily_domains:SSF48371		P/Q		T	medium	1270/2915		getma.org/?cm=msa&ty=f&p=BRAT1_HUMAN&rb=201&re=400&var=P338Q	deleterious(0.01)	F8WDN5_HUMAN			YES	BRAT1,missense_variant,p.Pro338Gln,ENST00000340611,NM_152743.3;BRAT1,upstream_gene_variant,,ENST00000473879,;BRAT1,splice_region_variant,,ENST00000469750,;BRAT1,splice_region_variant,,ENST00000467558,;BRAT1,non_coding_transcript_exon_variant,,ENST00000493232,;BRAT1,downstream_gene_variant,,ENST00000421712,;							MODERATE	1013/2466	P338Q	BRAT1_HUMAN			Transcript		possibly_damaging(0.643)	.	ENSP00000339637		CCDS5334.1			1	
BLOC1S3	0	LGGM	GRCh37	19	45682591	45682591	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	5	2	.	.	ENST00000433642.2:c.37A>G	p.Arg13Gly	p.R13G	ENST00000433642	NM_212550.3	13	Agg/Ggg	0	1	1	UPI0000202628	0	NA	ENST00000433642		ENSG00000189114	20914		7	0.55		HGNC	p.R13G		BLOC1S3		SNV			1				ENST00000587722	protein_coding	getma.org/?cm=var&var=hg19,19,45682591,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31974,PIRSF_domain:PIRSF037630		R/G		G	neutral	133/2601		getma.org/?cm=msa&ty=f&p=BL1S3_HUMAN&rb=1&re=201&var=R13G	deleterious(0.01)	K7EN58_HUMAN,K7ELZ0_HUMAN			YES	BLOC1S3,missense_variant,p.Arg13Gly,ENST00000433642,NM_212550.3;BLOC1S3,missense_variant,p.Arg13Gly,ENST00000587722,;MARK4,intron_variant,,ENST00000587566,;TRAPPC6A,upstream_gene_variant,,ENST00000006275,NM_024108.2;TRAPPC6A,upstream_gene_variant,,ENST00000585934,NM_001270891.1;TRAPPC6A,upstream_gene_variant,,ENST00000588062,NM_001270892.1,NM_001270893.1;TRAPPC6A,upstream_gene_variant,,ENST00000592647,;BLOC1S3,upstream_gene_variant,,ENST00000592910,;BLOC1S3,upstream_gene_variant,,ENST00000588362,;AC005779.2,upstream_gene_variant,,ENST00000593083,;TRAPPC6A,upstream_gene_variant,,ENST00000587818,;AC005779.1,downstream_gene_variant,,ENST00000441087,;							MODERATE	37/609	R13G	BL1S3_HUMAN			Transcript		benign(0.003)	.	ENSP00000393840		CCDS12656.1			1	
E2F6	0	LGGM	GRCh37	2	11591931	11591931	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	11	2	.	.	ENST00000381525.3:c.382G>C	p.Gly128Arg	p.G128R	ENST00000381525	NM_001278278.1	128	Gga/Cga	0	1	1	UPI0000000C90	0	NA	ENST00000381525		ENSG00000169016	3120		13	2.81		HGNC	p.G96R		E2F6		SNV							ENST00000307236	protein_coding	getma.org/?cm=var&var=hg19,2,11591931,C,G&fts=all		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF19,Gene3D:1.10.10.10,Pfam_domain:PF02319		G/R		G	medium	652/3218		getma.org/?cm=msa&ty=f&p=E2F6_HUMAN&rb=63&re=128&var=G128R	deleterious(0)	Q6Q9Z5_HUMAN,Q53YM3_HUMAN			YES	E2F6,missense_variant,p.Gly128Arg,ENST00000381525,NM_001278278.1,NM_198256.3,NM_212540.2,NM_001278275.1,NM_001278276.1;E2F6,missense_variant,p.Gly53Arg,ENST00000542100,NM_001278277.1;E2F6,missense_variant,p.Gly96Arg,ENST00000307236,;E2F6,missense_variant,p.Gly53Arg,ENST00000546212,;E2F6,intron_variant,,ENST00000362009,;E2F6,splice_region_variant,,ENST00000444832,;E2F6,splice_region_variant,,ENST00000428221,;E2F6,splice_region_variant,,ENST00000455198,;E2F6,splice_region_variant,,ENST00000437573,;E2F6,splice_region_variant,,ENST00000468775,;E2F6,splice_region_variant,,ENST00000421117,;E2F6,upstream_gene_variant,,ENST00000471343,;							MODERATE	382/846	G128R	E2F6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370936		CCDS1680.2			1	
INTS9	0	LGGM	GRCh37	8	28695212	28695212	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	11	2	.	.	ENST00000521022.1:c.343G>T	p.Glu115Ter	p.E115*	ENST00000521022	NM_018250.3	115	Gag/Tag	0	1	1	UPI0000071C2E	0	NA	ENST00000521022		ENSG00000104299	25592		13	0		HGNC	p.E115X		INTS9		SNV							ENST00000523303	protein_coding	getma.org/?cm=var&var=hg19,8,28695212,C,A&fts=all		Gene3D:3.60.15.10,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF2,Superfamily_domains:SSF56281		E/*		A	NA	425/2544		NA		H7BYQ6_HUMAN,E5RJ88_HUMAN			YES	INTS9,stop_gained,p.Glu94Ter,ENST00000416984,NM_001145159.2;INTS9,stop_gained,p.Glu115Ter,ENST00000521022,NM_018250.3;INTS9,stop_gained,p.Glu91Ter,ENST00000521777,NM_001172562.1;INTS9,stop_gained,p.Glu9Ter,ENST00000397363,;INTS9,stop_gained,p.Glu115Ter,ENST00000523436,;INTS9,stop_gained,p.Glu107Ter,ENST00000524081,;INTS9,downstream_gene_variant,,ENST00000520184,;INTS9,stop_gained,p.Glu115Ter,ENST00000523303,;INTS9,stop_gained,p.Glu115Ter,ENST00000518510,;INTS9,3_prime_UTR_variant,,ENST00000522363,;INTS9,3_prime_UTR_variant,,ENST00000520437,;INTS9,non_coding_transcript_exon_variant,,ENST00000520983,;							HIGH	343/1977	E115*	INT9_HUMAN			Transcript			.	ENSP00000429065		CCDS34873.1			1	
PLCB4	0	LGGM	GRCh37	20	9391733	9391733	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	9	2	.	.	ENST00000378501.2:c.2013C>A	p.Cys671Ter	p.C671*	ENST00000378501	NM_000933.3	671	tgC/tgA	0	1		UPI0000131A94	0	NA	ENST00000278655		ENSG00000101333	9059		11	0		HGNC	p.C671X		PLCB4		SNV			1				ENST00000378493	protein_coding	getma.org/?cm=var&var=hg19,20,9391733,C,A&fts=all		Gene3D:3.20.20.190,Pfam_domain:PF00387,PIRSF_domain:PIRSF000956,PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78,SMART_domains:SM00149,Superfamily_domains:SSF51695		C/*		A	NA	2091/5430		NA		B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN				PLCB4,stop_gained,p.Cys671Ter,ENST00000378501,NM_000933.3;PLCB4,stop_gained,p.Cys671Ter,ENST00000378493,;PLCB4,stop_gained,p.Cys671Ter,ENST00000334005,;PLCB4,stop_gained,p.Cys683Ter,ENST00000378473,NM_001172646.1;PLCB4,stop_gained,p.Cys671Ter,ENST00000278655,NM_182797.2;PLCB4,stop_gained,p.Cys683Ter,ENST00000414679,;PLCB4,splice_region_variant,,ENST00000492632,;PLCB4,splice_region_variant,,ENST00000464199,;PLCB4,splice_region_variant,,ENST00000482123,;PLCB4,splice_region_variant,,ENST00000473151,;							HIGH	2013/3528	C671*	PLCB4_HUMAN			Transcript			.	ENSP00000278655		CCDS13105.1			1	
LEMD3	0	LGGM	GRCh37	12	65564023	65564023	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	0	2	.	.	ENST00000308330.2:c.647C>A	p.Ala216Glu	p.A216E	ENST00000308330	NM_014319.4	216	gCa/gAa	0	1	1	UPI000012EB75	0	NA	ENST00000308330		ENSG00000174106	28887		2	0.205		HGNC	p.A216E		LEMD3		SNV			1				ENST00000308330	protein_coding	getma.org/?cm=var&var=hg19,12,65564023,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428		A/E		A	neutral	673/4764		getma.org/?cm=msa&ty=f&p=MAN1_HUMAN&rb=50&re=249&var=A216E	tolerated_low_confidence(0.89)	B4DI45_HUMAN			YES	LEMD3,missense_variant,p.Ala216Glu,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,non_coding_transcript_exon_variant,,ENST00000541171,;							MODERATE	647/2736	A216E	MAN1_HUMAN			Transcript		benign(0.123)	.	ENSP00000308369		CCDS8972.1			1	
ARVCF	0	LGGM	GRCh37	22	19960779	19960779	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	5	2	.	.	ENST00000263207.3:c.2301G>T	p.Pro767=	p.P767=	ENST00000263207	NM_001670.2	767	ccG/ccT	0	1	1	UPI00001260C8	0		ENST00000263207		ENSG00000099889	728		7			HGNC	p.P698P	rs374908033	ARVCF		SNV	A:0.0002		1	0.000432			ENST00000406522	protein_coding		A:0	hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF5,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		P	A:0	A		2593/4041	2.03E-05				A:0	A:0	YES	ARVCF,synonymous_variant,p.=,ENST00000263207,NM_001670.2;ARVCF,synonymous_variant,p.=,ENST00000344269,;ARVCF,synonymous_variant,p.=,ENST00000406259,;ARVCF,synonymous_variant,p.=,ENST00000401994,;ARVCF,synonymous_variant,p.=,ENST00000406522,;COMT,downstream_gene_variant,,ENST00000361682,NM_000754.3;COMT,downstream_gene_variant,,ENST00000449653,NM_007310.2;COMT,downstream_gene_variant,,ENST00000403710,;COMT,downstream_gene_variant,,ENST00000407537,;COMT,downstream_gene_variant,,ENST00000406520,NM_001135162.1;COMT,downstream_gene_variant,,ENST00000412786,NM_001135161.1;ARVCF,non_coding_transcript_exon_variant,,ENST00000480792,;ARVCF,non_coding_transcript_exon_variant,,ENST00000495096,;COMT,downstream_gene_variant,,ENST00000207636,;		A:0.0002					LOW	2301/2889		ARVC_HUMAN		A:0.001	Transcript			common_variant	ENSP00000263207	3.31E-05	CCDS13771.1		A:0	1	
PLEKHM2	0	LGGM	GRCh37	1	16052035	16052035	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	1	2	.	.	ENST00000375799.3:c.936C>A	p.Val312=	p.V312=	ENST00000375799	NM_015164.2	312	gtC/gtA	0	1	1	UPI00001C1D9C	0		ENST00000375799		ENSG00000116786	29131		3			HGNC	p.V292V		PLEKHM2		SNV							ENST00000375793	protein_coding					V		A		1163/4122							YES	PLEKHM2,synonymous_variant,p.=,ENST00000375799,NM_015164.2;PLEKHM2,synonymous_variant,p.=,ENST00000375793,;RP11-288I21.1,intron_variant,,ENST00000453804,;PLEKHM2,upstream_gene_variant,,ENST00000477849,;							LOW	936/3060		PKHM2_HUMAN			Transcript			.	ENSP00000364956		CCDS44063.1			1	
LPCAT4	0	LGGM	GRCh37	15	34657358	34657358	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	10	2	.	.	ENST00000314891.6:c.329G>C	p.Arg110Pro	p.R110P	ENST00000314891	NM_153613.2	110	cGc/cCc	0	1	1	UPI00003D0606	0	NA	ENST00000314891		ENSG00000176454	30059		12	2.575		HGNC	p.R110P		LPCAT4		SNV							ENST00000314891	protein_coding	getma.org/?cm=var&var=hg19,15,34657358,C,G&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:0039877,Pfam_domain:PF01553,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF7		R/P		G	medium	507/1975		getma.org/?cm=msa&ty=f&p=LPCT4_HUMAN&rb=108&re=232&var=R110P	deleterious(0.01)	B7ZM32_HUMAN			YES	LPCAT4,missense_variant,p.Arg110Pro,ENST00000314891,NM_153613.2;LPCAT4,non_coding_transcript_exon_variant,,ENST00000562431,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000566581,;LPCAT4,non_coding_transcript_exon_variant,,ENST00000569804,;LPCAT4,upstream_gene_variant,,ENST00000563748,;LPCAT4,upstream_gene_variant,,ENST00000563240,;LPCAT4,upstream_gene_variant,,ENST00000567507,;LPCAT4,upstream_gene_variant,,ENST00000562404,;							MODERATE	329/1575	R110P	LPCT4_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000317300		CCDS32191.1			1	
CALR	0	LGGM	GRCh37	19	13050892	13050892	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	12	2	.	.	ENST00000316448.5:c.423C>G	p.Thr141=	p.T141=	ENST00000316448	NM_004343.3	141	acC/acG	0	1	1	UPI000004CEC9	0		ENST00000316448		ENSG00000179218	1455		14			HGNC	p.T73T		CALR		SNV			1				ENST00000588454	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF00262,PIRSF_domain:PIRSF002356,Prints_domain:PR00626,hmmpanther:PTHR11073,hmmpanther:PTHR11073:SF8,Superfamily_domains:SSF49899		T		G		496/1903				B4E2Y9_HUMAN			YES	CALR,synonymous_variant,p.=,ENST00000316448,NM_004343.3;CALR,synonymous_variant,p.=,ENST00000588454,;CALR,upstream_gene_variant,,ENST00000586760,;CTC-425F1.4,downstream_gene_variant,,ENST00000589120,;CALR,non_coding_transcript_exon_variant,,ENST00000587486,;CALR,non_coding_transcript_exon_variant,,ENST00000590325,;CALR,upstream_gene_variant,,ENST00000586803,;CALR,upstream_gene_variant,,ENST00000586967,;							LOW	423/1254		CALR_HUMAN			Transcript			.	ENSP00000320866		CCDS12288.1			1	
AVPR1B	0	LGGM	GRCh37	1	206225334	206225334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	37	3	.	.	ENST00000367126.4:c.894C>A	p.Phe298Leu	p.F298L	ENST00000367126	NM_000707.3	298	ttC/ttA	0	1	1	UPI000005043A	0	getma.org/pdb.php?prot=V1BR_HUMAN&from=51&to=338&var=F298L	ENST00000367126		ENSG00000198049	896		40	3.53		HGNC	p.F298L		AVPR1B		SNV							ENST00000367126	protein_coding	getma.org/?cm=var&var=hg19,1,206225334,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		F/L		A	high	1359/2237		getma.org/?cm=msa&ty=f&p=V1BR_HUMAN&rb=51&re=338&var=F298L	deleterious(0.01)				YES	AVPR1B,missense_variant,p.Phe298Leu,ENST00000367126,NM_000707.3;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;							MODERATE	894/1275	F298L	V1BR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356094		CCDS30994.1			1	
GPR158	0	LGGM	GRCh37	10	25877950	25877950	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	35	3	.	.	ENST00000376351.3:c.1768C>G	p.Leu590Val	p.L590V	ENST00000376351	NM_020752.2	590	Ctc/Gtc	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		38	3.03		HGNC	p.L590V		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25877950,C,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003		L/V		G	medium	2127/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=426&re=669&var=L590V	deleterious(0.02)				YES	GPR158,missense_variant,p.Leu590Val,ENST00000376351,NM_020752.2;							MODERATE	1768/3648	L590V	GP158_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000365529		CCDS31166.1			1	
NAV3	0	LGGM	GRCh37	12	78400262	78400262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	30	3	.	.	ENST00000536525.2:c.944C>A	p.Ala315Asp	p.A315D	ENST00000536525	NM_014903.4	315	gCt/gAt	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		33	0.345		HGNC	p.A315D	rs769963958	NAV3		SNV							ENST00000549464	protein_coding	getma.org/?cm=var&var=hg19,12,78400262,C,A&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		A/D		A	neutral	1117/9821	3.05E-05	getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=185&re=384&var=A315D	deleterious(0.02)	F8VZV4_HUMAN				NAV3,missense_variant,p.Ala315Asp,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ala315Asp,ENST00000228327,;NAV3,missense_variant,p.Ala315Asp,ENST00000266692,;NAV3,missense_variant,p.Ala315Asp,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Ala315Asp,ENST00000549464,;NAV3,missense_variant,p.Ala139Asp,ENST00000550503,;NAV3,non_coding_transcript_exon_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;							MODERATE	944/7158	A315D	NAV3_HUMAN			Transcript		benign(0.032)	.	ENSP00000381007	1.65E-05	CCDS66432.1			1	
GALNT6	0	LGGM	GRCh37	12	51757925	51757925	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	27	3	.	.	ENST00000543196.2:c.1029G>T	p.Lys343Asn	p.K343N	ENST00000543196		343	aaG/aaT	0	1		UPI000013D726	0	getma.org/pdb.php?prot=GALT6_HUMAN&from=180&to=370&var=K343N	ENST00000356317		ENSG00000139629	4128		30	0.69		HGNC	p.K343N		GALNT6		SNV							ENST00000356317	protein_coding	getma.org/?cm=var&var=hg19,12,51757925,C,A&fts=all		hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		K/N		A	neutral	1343/2809		getma.org/?cm=msa&ty=f&p=GALT6_HUMAN&rb=180&re=370&var=K343N	tolerated(0.09)	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN				GALNT6,missense_variant,p.Lys343Asn,ENST00000543196,;GALNT6,missense_variant,p.Lys343Asn,ENST00000356317,NM_007210.3;GALNT6,missense_variant,p.Lys343Asn,ENST00000603641,;GALNT6,upstream_gene_variant,,ENST00000603680,;							MODERATE	1029/1869	K343N	GALT6_HUMAN			Transcript		possibly_damaging(0.805)	.	ENSP00000348668		CCDS8813.1			1	
GGT5	0	LGGM	GRCh37	22	24622662	24622662	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	32	3	.	.	ENST00000398292.3:c.975G>T	p.Thr325=	p.T325=	ENST00000398292		325	acG/acT	0	1		UPI000013D3A9	0		ENST00000327365		ENSG00000099998	4260		35			HGNC	p.T293T		GGT5		SNV							ENST00000263112	protein_coding			Superfamily_domains:SSF56235,Pfam_domain:PF01019,hmmpanther:PTHR11686,hmmpanther:PTHR11686:SF5		T		A		1392/2494				B4DND4_HUMAN				GGT5,synonymous_variant,p.=,ENST00000327365,NM_001099781.1,NM_004121.2;GGT5,synonymous_variant,p.=,ENST00000398292,;GGT5,synonymous_variant,p.=,ENST00000263112,NM_001099782.1;GGT5,synonymous_variant,p.=,ENST00000418439,;GGT5,upstream_gene_variant,,ENST00000425408,;							LOW	975/1761		GGT5_HUMAN			Transcript			.	ENSP00000330080		CCDS13825.1			1	
ZNF483	0	LGGM	GRCh37	9	114289906	114289906	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	45	3	.	.	ENST00000309235.5:c.231C>A	p.Cys77Ter	p.C77*	ENST00000309235	NM_133464.2	77	tgC/tgA	0	1	1	UPI00001C1EBF	0	NA	ENST00000309235		ENSG00000173258	23384		48	0		HGNC	p.C77X		ZNF483		SNV							ENST00000374374	protein_coding	getma.org/?cm=var&var=hg19,9,114289906,C,A&fts=all		Pfam_domain:PF02023,PROSITE_profiles:PS50804,SMART_domains:SM00431,Superfamily_domains:SSF47353		C/*		A	NA	389/3655		NA					YES	ZNF483,stop_gained,p.Cys77Ter,ENST00000309235,NM_133464.2;ZNF483,stop_gained,p.Cys77Ter,ENST00000358151,NM_001007169.2;ZNF483,stop_gained,p.Cys77Ter,ENST00000355824,;ZNF483,stop_gained,p.Cys77Ter,ENST00000374374,;							HIGH	231/2235	C77*	ZN483_HUMAN			Transcript			.	ENSP00000311679		CCDS35106.1			1	
FLNC	0	LGGM	GRCh37	7	128486145	128486145	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	13	3	.	.	ENST00000325888.8:c.3892G>T	p.Ala1298Ser	p.A1298S	ENST00000325888	NM_001458.4	1298	Gcc/Tcc	0	1	1	UPI000006DE6D	0	getma.org/pdb.php?prot=FLNC_HUMAN&from=1247&to=1341&var=A1298S	ENST00000325888		ENSG00000128591	3756		16	1.225		HGNC	p.A1298S		FLNC		SNV			1				ENST00000325888	protein_coding	getma.org/?cm=var&var=hg19,7,128486145,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296		A/S		T	low	4153/9188		getma.org/?cm=msa&ty=f&p=FLNC_HUMAN&rb=1247&re=1341&var=A1298S	tolerated(0.21)	Q59H94_HUMAN,B3KM41_HUMAN			YES	FLNC,missense_variant,p.Ala1298Ser,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Ala1298Ser,ENST00000346177,NM_001127487.1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,;FLNC,downstream_gene_variant,,ENST00000388853,;							MODERATE	3892/8178	A1298S	FLNC_HUMAN			Transcript		benign(0.034)	.	ENSP00000327145		CCDS43644.1			1	
PAQR3	0	LGGM	GRCh37	4	79841713	79841713	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	46	3	.	.	ENST00000512733.1:c.916G>T	p.Asp306Tyr	p.D306Y	ENST00000512733	NM_001040202.1	306	Gac/Tac	0	1		UPI000015FC28	0	NA	ENST00000511594		ENSG00000163291	30130		49	1.24		HGNC	p.D306Y		PAQR3		SNV							ENST00000512733	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,4,79841713,C,A&fts=all		hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF25		D/Y		A	low	917/2288		getma.org/?cm=msa&ty=f&p=PAQR3_HUMAN&rb=261&re=311&var=D306Y	deleterious(0.01)					PAQR3,missense_variant,p.Asp306Tyr,ENST00000512733,NM_001040202.1;PAQR3,3_prime_UTR_variant,,ENST00000295462,;BMP2K,downstream_gene_variant,,ENST00000502613,;PAQR3,downstream_gene_variant,,ENST00000380645,;PAQR3,intron_variant,,ENST00000515541,;PAQR3,intron_variant,,ENST00000503343,;PAQR3,downstream_gene_variant,,ENST00000512299,;PAQR3,missense_variant,p.Asp306Tyr,ENST00000511594,;PAQR3,3_prime_UTR_variant,,ENST00000395594,;PAQR3,3_prime_UTR_variant,,ENST00000515853,;PAQR3,3_prime_UTR_variant,,ENST00000342820,;PAQR3,3_prime_UTR_variant,,ENST00000512760,;PAQR3,downstream_gene_variant,,ENST00000505715,;							MODERATE	916/936	D306Y	PAQR3_HUMAN			Transcript		benign(0.17)	.	ENSP00000425080		CCDS34020.1			1	
EPB41	0	LGGM	GRCh37	1	29391649	29391649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	43	3	.	.	ENST00000343067.4:c.2163G>A	p.Gly721=	p.G721=	ENST00000343067	NM_001166005.1	721	ggG/ggA	0	1	1	UPI000014177D	0		ENST00000343067		ENSG00000159023	3377		46			HGNC	p.G721G		EPB41		SNV			1				ENST00000373798	protein_coding			PIRSF_domain:PIRSF002304,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF12		G		A		2290/5930							YES	EPB41,synonymous_variant,p.=,ENST00000343067,NM_001166005.1;EPB41,synonymous_variant,p.=,ENST00000373798,;EPB41,synonymous_variant,p.=,ENST00000356093,NM_001166007.1;EPB41,synonymous_variant,p.=,ENST00000398863,;EPB41,synonymous_variant,p.=,ENST00000349460,NM_203342.2;EPB41,synonymous_variant,p.=,ENST00000373800,NM_004437.3;EPB41,synonymous_variant,p.=,ENST00000347529,NM_203343.2;EPB41,synonymous_variant,p.=,ENST00000373797,NM_001166006.1;EPB41,non_coding_transcript_exon_variant,,ENST00000490308,;EPB41,non_coding_transcript_exon_variant,,ENST00000488277,;							LOW	2163/2595		41_HUMAN			Transcript			.	ENSP00000345259		CCDS53288.1			1	
MUC16	0	LGGM	GRCh37	19	9056910	9056910	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	32	3	.	.	ENST00000397910.4:c.30536G>T	p.Ser10179Ile	p.S10179I	ENST00000397910	NM_024690.2	10179	aGc/aTc	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		35	0.975		HGNC	p.S10179I		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9056910,C,A&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,Low_complexity_(Seg):seg		S/I		A	low	30740/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=10064&re=10263&var=S10181I		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser10179Ile,ENST00000397910,NM_024690.2;							MODERATE	30536/43524	S10181I				Transcript		possibly_damaging(0.607)	.	ENSP00000381008		CCDS54212.1			1	
CUL7	0	LGGM	GRCh37	6	43011329	43011329	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	2	3	.	.	ENST00000535468.1:c.3464A>G	p.Gln1155Arg	p.Q1155R	ENST00000535468	NM_014780.4	1155	cAg/cGg	0	1		UPI000013D603	0	NA	ENST00000265348		ENSG00000044090	21024		5	1.905		HGNC	p.Q1155R		CUL7		SNV			1				ENST00000535468	protein_coding	getma.org/?cm=var&var=hg19,6,43011329,T,C&fts=all		hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3		Q/R		C	medium	3298/5254		getma.org/?cm=msa&ty=f&p=CUL7_HUMAN&rb=976&re=1544&var=Q1071R	deleterious(0)					CUL7,missense_variant,p.Gln1155Arg,ENST00000535468,NM_014780.4,NM_001168370.1;CUL7,missense_variant,p.Gln1071Arg,ENST00000265348,;CUL7,downstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;							MODERATE	3212/5097	Q1071R	CUL7_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000265348		CCDS4881.1			1	
KCNN4	0	LGGM	GRCh37	19	44273904	44273904	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	21	3	.	.	ENST00000262888.3:c.897C>A	p.His299Gln	p.H299Q	ENST00000262888	NM_002250.2	299	caC/caA	0	1	1	UPI0000000DF3	0	NA	ENST00000262888		ENSG00000104783	6293		24	1.83		HGNC	p.H62Q	COSM566998	KCNN4		SNV						1	ENST00000600408	protein_coding	getma.org/?cm=var&var=hg19,19,44273904,G,T&fts=all		hmmpanther:PTHR10153:SF4,hmmpanther:PTHR10153,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Superfamily_domains:SSF81327		H/Q		T	low	1293/2240		getma.org/?cm=msa&ty=f&p=KCNN4_HUMAN&rb=262&re=333&var=H299Q	deleterious(0)	M0R2E8_HUMAN,M0QZ70_HUMAN			YES	KCNN4,missense_variant,p.His299Gln,ENST00000262888,NM_002250.2;KCNN4,missense_variant,p.His26Gln,ENST00000598836,;KCNN4,upstream_gene_variant,,ENST00000600909,;KCNN4,missense_variant,p.His62Gln,ENST00000600408,;KCNN4,3_prime_UTR_variant,,ENST00000599720,;KCNN4,non_coding_transcript_exon_variant,,ENST00000601549,;KCNN4,downstream_gene_variant,,ENST00000599107,;KCNN4,upstream_gene_variant,,ENST00000597184,;					1		MODERATE	897/1284	H299Q	KCNN4_HUMAN			Transcript		benign(0.063)	.	ENSP00000262888		CCDS12630.1			1	
NSMF	0	LGGM	GRCh37	9	140347546	140347546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	9	3	.	.	ENST00000371475.3:c.1009G>T	p.Ala337Ser	p.A337S	ENST00000371475	NM_001130969.1	337	Gcc/Tcc	0	1	1	UPI000035198D	0	NA	ENST00000371475		ENSG00000165802	29843		12	0.97		HGNC	p.A335S		NSMF		SNV			1				ENST00000371472	protein_coding	getma.org/?cm=var&var=hg19,9,140347546,C,A&fts=all		hmmpanther:PTHR32061		A/S		A	low	1241/3646		getma.org/?cm=msa&ty=f&p=NELF_HUMAN&rb=248&re=528&var=A337S	tolerated(0.11)	Q9BT66_HUMAN,Q96AQ0_HUMAN,A8K7L5_HUMAN			YES	NSMF,missense_variant,p.Ala337Ser,ENST00000371475,NM_001130969.1;NSMF,missense_variant,p.Ala335Ser,ENST00000265663,NM_015537.4;NSMF,missense_variant,p.Ala314Ser,ENST00000392812,;NSMF,missense_variant,p.Ala314Ser,ENST00000437259,NM_001130970.1;NSMF,missense_variant,p.Ala312Ser,ENST00000371474,NM_001130971.1;NSMF,missense_variant,p.Ala307Ser,ENST00000371473,NM_001178064.1;NSMF,missense_variant,p.Ala134Ser,ENST00000339554,;NSMF,missense_variant,p.Ala335Ser,ENST00000371472,;NSMF,missense_variant,p.Ala134Ser,ENST00000541195,;NSMF,missense_variant,p.Ala70Ser,ENST00000371468,;NSMF,5_prime_UTR_variant,,ENST00000371482,;NSMF,non_coding_transcript_exon_variant,,ENST00000484316,;NSMF,non_coding_transcript_exon_variant,,ENST00000482448,;							MODERATE	1009/1593	A337S	NSMF_HUMAN			Transcript		benign(0.084)	.	ENSP00000360530		CCDS48069.1			1	
MAGOHB	0	LGGM	GRCh37	12	10760517	10760517	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	37	3	.	.	ENST00000320756.2:c.283G>T	p.Gly95Ter	p.G95*	ENST00000320756	NM_018048.3	95	Gga/Tga	0	1	1	UPI00000719E5	0	NA	ENST00000320756		ENSG00000111196	25504		40	0		HGNC	p.G58X		MAGOHB		SNV							ENST00000381881	protein_coding	getma.org/?cm=var&var=hg19,12,10760517,C,A&fts=all		Gene3D:1oo0A00,Pfam_domain:PF02792,hmmpanther:PTHR12638,Superfamily_domains:SSF89817		G/*		A	NA	374/800		NA		F5H6P7_HUMAN			YES	MAGOHB,stop_gained,p.Gly95Ter,ENST00000320756,NM_018048.3;MAGOHB,stop_gained,p.Gly49Ter,ENST00000539554,;MAGOHB,stop_gained,p.Gly58Ter,ENST00000381881,;MAGOHB,3_prime_UTR_variant,,ENST00000544850,;MAGOHB,3_prime_UTR_variant,,ENST00000545236,;MAGOHB,3_prime_UTR_variant,,ENST00000540074,;MAGOHB,non_coding_transcript_exon_variant,,ENST00000537852,;MAGOHB,non_coding_transcript_exon_variant,,ENST00000398874,;MAGOHB,downstream_gene_variant,,ENST00000543929,;MAGOHB,downstream_gene_variant,,ENST00000546173,;MAGOHB,downstream_gene_variant,,ENST00000544176,;							HIGH	283/447	G95*	MGN2_HUMAN			Transcript			.	ENSP00000319240		CCDS8628.1			1	
LRP6	0	LGGM	GRCh37	12	12284794	12284794	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	41	3	.	.	ENST00000261349.4:c.3931G>A	p.Ala1311Thr	p.A1311T	ENST00000261349	NM_002336.2	1311	Gca/Aca	0	1	1	UPI00001FB66C	0	getma.org/pdb.php?prot=LRP6_HUMAN&from=1286&to=1322&var=A1311T	ENST00000261349		ENSG00000070018	6698		44	0.845		HGNC	p.A1311T		LRP6		SNV			1				ENST00000261349	protein_coding	getma.org/?cm=var&var=hg19,12,12284794,C,T&fts=all		Prints_domain:PR00261,Superfamily_domains:SSF57424,SMART_domains:SM00192,PIRSF_domain:PIRSF036314,Pfam_domain:PF00057,Gene3D:4.10.400.10,PROSITE_patterns:PS01209,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS50068		A/T		T	low	4008/10020		getma.org/?cm=msa&ty=f&p=LRP6_HUMAN&rb=1286&re=1322&var=A1311T	tolerated(0.61)	F5H0Z3_HUMAN,B3KQA9_HUMAN			YES	LRP6,missense_variant,p.Ala1311Thr,ENST00000261349,NM_002336.2;LRP6,missense_variant,p.Ala1266Thr,ENST00000543091,;BCL2L14,intron_variant,,ENST00000396369,;LRP6,upstream_gene_variant,,ENST00000540527,;LRP6,non_coding_transcript_exon_variant,,ENST00000540415,;LRP6,missense_variant,p.Ala1176Thr,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;							MODERATE	3931/4842	A1311T	LRP6_HUMAN			Transcript		benign(0.016)	.	ENSP00000261349		CCDS8647.1			1	
ZNF880	0	LGGM	GRCh37	19	52887957	52887957	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	47	3	.	.	ENST00000422689.2:c.1124C>A	p.Thr375Asn	p.T375N	ENST00000422689	NM_001145434.1	375	aCt/aAt	0	1	1	UPI00001D818D	0	getma.org/pdb.php?prot=ZN880_HUMAN&from=366&to=391&var=T375N	ENST00000422689		ENSG00000221923	37249		50	2.15		HGNC	p.T375N		ZNF880		SNV							ENST00000422689	protein_coding	getma.org/?cm=var&var=hg19,19,52887957,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108,Superfamily_domains:SSF57667		T/N		A	medium	1139/2230		getma.org/?cm=msa&ty=f&p=ZN880_HUMAN&rb=346&re=411&var=T375N	deleterious(0.02)				YES	ZNF880,missense_variant,p.Thr375Asn,ENST00000422689,NM_001145434.1;ZNF880,downstream_gene_variant,,ENST00000600321,;ZNF880,downstream_gene_variant,,ENST00000424032,;CTD-3018O17.3,downstream_gene_variant,,ENST00000601562,;CTD-3018O17.3,downstream_gene_variant,,ENST00000594119,;							MODERATE	1124/1734	T375N	ZN880_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000406318		CCDS46164.1			1	
A1BG	0	LGGM	GRCh37	19	58863003	58863003	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	5	3	.	.	ENST00000263100.3:c.664C>T	p.Leu222=	p.L222=	ENST00000263100	NM_130786.3	222	Ctg/Ttg	0	1	1	UPI0000167B10	0		ENST00000263100		ENSG00000121410	5		8			HGNC	p.L222L		A1BG		SNV							ENST00000263100	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PIRSF_domain:PIRSF001979,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF3,SMART_domains:SM00409,Superfamily_domains:SSF48726		L		A		726/1722				Q7Z3U3_HUMAN			YES	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,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,;A1BG-AS1,upstream_gene_variant,,ENST00000595302,;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,;							LOW	664/1488		A1BG_HUMAN			Transcript			.	ENSP00000263100		CCDS12976.1			1	
PHTF1	0	LGGM	GRCh37	1	114256017	114256017	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	43	3	.	.	ENST00000369604.1:c.667G>T	p.Asp223Tyr	p.D223Y	ENST00000369604		223	Gac/Tac	0	1	1	UPI000013C9D0	0	NA	ENST00000369604		ENSG00000116793	8939		46	0.55		HGNC	p.D170Y		PHTF1		SNV							ENST00000369600	protein_coding	getma.org/?cm=var&var=hg19,1,114256017,C,A&fts=all		hmmpanther:PTHR12680,hmmpanther:PTHR12680:SF8		D/Y		A	neutral	1151/3273		getma.org/?cm=msa&ty=f&p=PHTF1_HUMAN&rb=159&re=358&var=D223Y	deleterious(0)	F6T5D1_HUMAN			YES	PHTF1,missense_variant,p.Asp223Tyr,ENST00000369604,;PHTF1,missense_variant,p.Asp223Tyr,ENST00000393357,NM_006608.2;PHTF1,missense_variant,p.Asp170Tyr,ENST00000369596,;PHTF1,missense_variant,p.Asp170Tyr,ENST00000369600,;PHTF1,missense_variant,p.Asp178Tyr,ENST00000369598,;PHTF1,missense_variant,p.Asp223Tyr,ENST00000357783,;PHTF1,intron_variant,,ENST00000447664,;PHTF1,upstream_gene_variant,,ENST00000412670,;PHTF1,non_coding_transcript_exon_variant,,ENST00000474926,;							MODERATE	667/2289	D223Y	PHTF1_HUMAN			Transcript		benign(0.238)	.	ENSP00000358617		CCDS861.1			1	
RPA1	0	LGGM	GRCh37	17	1787205	1787205	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	36	3	.	.	ENST00000254719.5:c.1341G>T	p.Glu447Asp	p.E447D	ENST00000254719	NM_002945.3	447	gaG/gaT	0	1	1	UPI000013379A	0	getma.org/pdb.php?prot=RFA1_HUMAN&from=287&to=460&var=E447D	ENST00000254719		ENSG00000132383	10289		39	0.985		HGNC	p.E203D		RPA1		SNV							ENST00000574049	protein_coding	getma.org/?cm=var&var=hg19,17,1787205,G,T&fts=all		hmmpanther:PTHR23273,hmmpanther:PTHR23273:SF0,Superfamily_domains:SSF50249,TIGRFAM_domain:TIGR00617		E/D		T	low	1451/4340		getma.org/?cm=msa&ty=f&p=RFA1_HUMAN&rb=287&re=460&var=E447D	tolerated(0.58)	I3L524_HUMAN,I3L2M5_HUMAN			YES	RPA1,missense_variant,p.Glu447Asp,ENST00000254719,NM_002945.3;RPA1,missense_variant,p.Glu203Asp,ENST00000574049,;RPA1,downstream_gene_variant,,ENST00000573924,;							MODERATE	1341/1851	E447D	RFA1_HUMAN			Transcript		benign(0.001)	.	ENSP00000254719		CCDS11014.1			1	
ABCA7	0	LGGM	GRCh37	19	1047576	1047576	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	4	3	.	.	ENST00000263094.6:c.2192C>A	p.Ala731Asp	p.A731D	ENST00000263094	NM_019112.3	731	gCc/gAc	0	1	1	UPI000013D3A4	0	NA	ENST00000263094		ENSG00000064687	37		7	2.46		HGNC	p.A731D		ABCA7		SNV							ENST00000433129	protein_coding	getma.org/?cm=var&var=hg19,19,1047576,C,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF49,Pfam_domain:PF12698		A/D		A	medium	2423/6816		getma.org/?cm=msa&ty=f&p=ABCA7_HUMAN&rb=532&re=750&var=A731D	tolerated(0.18)	E9PL63_HUMAN			YES	ABCA7,missense_variant,p.Ala731Asp,ENST00000263094,NM_019112.3;ABCA7,missense_variant,p.Ala731Asp,ENST00000433129,;ABCA7,missense_variant,p.Ala593Asp,ENST00000435683,;ABCA7,downstream_gene_variant,,ENST00000533574,;ABCA7,downstream_gene_variant,,ENST00000526885,;							MODERATE	2192/6441	A731D	ABCA7_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000263094		CCDS12055.1			1	
LRIG2	0	LGGM	GRCh37	1	113616248	113616248	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	23	3	.	.	ENST00000361127.5:c.220C>A	p.Pro74Thr	p.P74T	ENST00000361127	NM_014813.1	74	Ccc/Acc	0	1	1	UPI000006F613	0	NA	ENST00000361127		ENSG00000198799	20889		26	1.545		HGNC	p.P74T		LRIG2		SNV			1				ENST00000361127	protein_coding	getma.org/?cm=var&var=hg19,1,113616248,C,A&fts=all		Gene3D:3.80.10.10		P/T		A	low	418/11555		getma.org/?cm=msa&ty=f&p=LRIG2_HUMAN&rb=41&re=75&var=P74T	deleterious(0)				YES	LRIG2,missense_variant,p.Pro74Thr,ENST00000361127,NM_014813.1;RP11-31F15.2,upstream_gene_variant,,ENST00000421157,;							MODERATE	220/3198	P74T	LRIG2_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000355396		CCDS30808.1			1	
IRF3	0	LGGM	GRCh37	19	50166630	50166630	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	3	.	.	ENST00000601291.1:c.307C>A	p.Pro103Thr	p.P103T	ENST00000601291		103	Cca/Aca	0	1		UPI000012D88A	0	getma.org/pdb.php?prot=IRF3_HUMAN&from=5&to=112&var=P103T	ENST00000309877		ENSG00000126456	6118		28	3.1		HGNC	p.P103T		IRF3		SNV							ENST00000596756	protein_coding	getma.org/?cm=var&var=hg19,19,50166630,G,T&fts=all		PROSITE_profiles:PS51507,hmmpanther:PTHR11949,hmmpanther:PTHR11949:SF1,Gene3D:1.10.10.10,Pfam_domain:PF00605,SMART_domains:SM00348,Superfamily_domains:SSF46785		P/T		T	medium	638/1691		getma.org/?cm=msa&ty=f&p=IRF3_HUMAN&rb=5&re=112&var=P103T	deleterious(0)	Q71U93_HUMAN,M0R205_HUMAN,M0R0X9_HUMAN,M0R0R8_HUMAN,M0R007_HUMAN,M0QYX3_HUMAN,M0QYT9_HUMAN,M0QXC8_HUMAN				IRF3,missense_variant,p.Pro103Thr,ENST00000597198,;IRF3,missense_variant,p.Pro103Thr,ENST00000309877,;IRF3,missense_variant,p.Pro103Thr,ENST00000600911,;IRF3,missense_variant,p.Pro103Thr,ENST00000377139,NM_001571.5,NM_001197125.1,NM_001197122.1;IRF3,missense_variant,p.Pro103Thr,ENST00000601291,;IRF3,missense_variant,p.Pro103Thr,ENST00000598108,;IRF3,missense_variant,p.Pro103Thr,ENST00000599223,NM_001197124.1;IRF3,missense_variant,p.Pro103Thr,ENST00000596756,;IRF3,missense_variant,p.Pro103Thr,ENST00000377135,;IRF3,missense_variant,p.Pro103Thr,ENST00000601809,;IRF3,missense_variant,p.Pro103Thr,ENST00000593337,;IRF3,incomplete_terminal_codon_variant,p.=,ENST00000600453,;IRF3,5_prime_UTR_variant,,ENST00000593922,NM_001197123.1;IRF3,5_prime_UTR_variant,,ENST00000598808,;IRF3,5_prime_UTR_variant,,ENST00000593818,;IRF3,5_prime_UTR_variant,,ENST00000600022,NM_001197127.1;IRF3,5_prime_UTR_variant,,ENST00000596822,;IRF3,5_prime_UTR_variant,,ENST00000601373,;IRF3,intron_variant,,ENST00000599144,NM_001197126.1;IRF3,intron_variant,,ENST00000595034,;IRF3,intron_variant,,ENST00000596765,NM_001197128.1;IRF3,intron_variant,,ENST00000442265,;SCAF1,downstream_gene_variant,,ENST00000360565,NM_021228.2;BCL2L12,upstream_gene_variant,,ENST00000246785,NM_138639.1,NM_001040668.1;BCL2L12,upstream_gene_variant,,ENST00000441864,;BCL2L12,upstream_gene_variant,,ENST00000246784,;BCL2L12,upstream_gene_variant,,ENST00000600947,;BCL2L12,upstream_gene_variant,,ENST00000594157,;BCL2L12,upstream_gene_variant,,ENST00000598306,;IRF3,upstream_gene_variant,,ENST00000599680,;IRF3,upstream_gene_variant,,ENST00000602190,;IRF3,downstream_gene_variant,,ENST00000597180,;IRF3,missense_variant,p.Pro103Thr,ENST00000597636,;IRF3,3_prime_UTR_variant,,ENST00000596788,;IRF3,non_coding_transcript_exon_variant,,ENST00000594387,;IRF3,non_coding_transcript_exon_variant,,ENST00000595240,;IRF3,non_coding_transcript_exon_variant,,ENST00000597369,;BCL2L12,upstream_gene_variant,,ENST00000598979,;IRF3,upstream_gene_variant,,ENST00000596644,;BCL2L12,upstream_gene_variant,,ENST00000601168,;							MODERATE	307/1284	P103T	IRF3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310127		CCDS12775.1			1	
PPFIA3	0	LGGM	GRCh37	19	49641675	49641675	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	21	3	.	.	ENST00000334186.4:c.2067C>A	p.Thr689=	p.T689=	ENST00000334186	NM_003660.3	689	acC/acA	0	1	1	UPI00001AE464	0		ENST00000334186		ENSG00000177380	9247		24			HGNC	p.T689T		PPFIA3		SNV							ENST00000334186	protein_coding			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4		T		A		2416/4733				R4GNF1_HUMAN			YES	PPFIA3,synonymous_variant,p.=,ENST00000334186,NM_003660.3;PPFIA3,synonymous_variant,p.=,ENST00000602351,;PPFIA3,upstream_gene_variant,,ENST00000602848,;PPFIA3,intron_variant,,ENST00000602655,;PPFIA3,intron_variant,,ENST00000421230,;PPFIA3,downstream_gene_variant,,ENST00000602716,;							LOW	2067/3585		LIPA3_HUMAN			Transcript			.	ENSP00000335614		CCDS12758.1			1	
MAPK15	0	LGGM	GRCh37	8	144803753	144803753	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	35	3	.	.	ENST00000338033.4:c.1239G>T	p.Gln413His	p.Q413H	ENST00000338033	NM_139021.2	413	caG/caT	0	1	1	UPI00000496E7	0	NA	ENST00000338033		ENSG00000181085	24667		38	0.805		HGNC	p.Q413H		MAPK15		SNV							ENST00000338033	protein_coding	getma.org/?cm=var&var=hg19,8,144803753,G,T&fts=all		hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF79		Q/H		T	low	1358/1961		getma.org/?cm=msa&ty=f&p=MK15_HUMAN&rb=410&re=539&var=Q413H	deleterious(0.03)				YES	MAPK15,missense_variant,p.Gln413His,ENST00000338033,NM_139021.2;FAM83H,downstream_gene_variant,,ENST00000388913,NM_198488.3;MAPK15,downstream_gene_variant,,ENST00000395107,;MAPK15,downstream_gene_variant,,ENST00000395108,;RP11-429J17.5,upstream_gene_variant,,ENST00000527908,;MAPK15,non_coding_transcript_exon_variant,,ENST00000484654,;MAPK15,non_coding_transcript_exon_variant,,ENST00000461928,;MAPK15,non_coding_transcript_exon_variant,,ENST00000528175,;FAM83H,downstream_gene_variant,,ENST00000395103,;MAPK15,downstream_gene_variant,,ENST00000533830,;MAPK15,downstream_gene_variant,,ENST00000475376,;							MODERATE	1239/1635	Q413H	MK15_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000337691		CCDS6409.2			1	
DOCK2	0	LGGM	GRCh37	5	169484655	169484655	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	8	3	.	.	ENST00000256935.8:c.4452G>A	p.Val1484=	p.V1484=	ENST00000256935	NM_004946.2	1484	gtG/gtA	0	1	1	UPI00001A38CC	0		ENST00000256935		ENSG00000134516	2988		11			HGNC	p.V1484V		DOCK2		SNV							ENST00000256935	protein_coding			PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920		V		A		4532/6097				Q5XG91_HUMAN,B3KXW9_HUMAN			YES	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,,ENST00000520450,;							LOW	4452/5493		DOCK2_HUMAN			Transcript			.	ENSP00000256935		CCDS4371.1			1	
LZTS1	0	LGGM	GRCh37	8	20107520	20107520	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	16	3	.	.	ENST00000381569.1:c.1504C>A	p.Arg502=	p.R502=	ENST00000381569		502	Cgg/Agg	0	1		UPI000006DEE8	0		ENST00000265801		ENSG00000061337	13861		19			HGNC	p.R502R		LZTS1		SNV			1				ENST00000381569	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19354:SF5,hmmpanther:PTHR19354,Pfam_domain:PF06818		R		T		1615/5459								LZTS1,synonymous_variant,p.=,ENST00000381569,;LZTS1,synonymous_variant,p.=,ENST00000265801,NM_021020.2;LZTS1,intron_variant,,ENST00000522290,;							LOW	1504/1791		LZTS1_HUMAN			Transcript			.	ENSP00000265801		CCDS6015.1			1	
AGXT	0	LGGM	GRCh37	2	241808675	241808675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	3	.	.	ENST00000307503.3:c.254C>A	p.Ala85Asp	p.A85D	ENST00000307503	NM_000030.2	85	gCc/gAc	0	1	1	UPI0000135E9B	0	getma.org/pdb.php?prot=SPYA_HUMAN&from=24&to=376&var=A85D	ENST00000307503		ENSG00000172482	341		28	3.54		HGNC	p.A85D		AGXT		SNV			1				ENST00000307503	protein_coding	getma.org/?cm=var&var=hg19,2,241808675,C,A&fts=all		hmmpanther:PTHR21152:SF16,hmmpanther:PTHR21152,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF000524,Superfamily_domains:SSF53383		A/D		A	high	641/1865		getma.org/?cm=msa&ty=f&p=SPYA_HUMAN&rb=24&re=376&var=A85D	deleterious(0)				YES	AGXT,missense_variant,p.Ala85Asp,ENST00000307503,NM_000030.2;AGXT,non_coding_transcript_exon_variant,,ENST00000472436,;AGXT,upstream_gene_variant,,ENST00000476698,;							MODERATE	254/1179	A85D	SPYA_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000302620		CCDS2543.1			1	
VEGFB	0	LGGM	GRCh37	11	64002942	64002942	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	18	3	.	.	ENST00000309422.2:c.73C>A	p.Gln25Lys	p.Q25K	ENST00000309422	NM_003377.4	25	Cag/Aag	0	1	1	UPI0000001047	0	NA	ENST00000309422		ENSG00000173511	12681		21	0.695		HGNC	p.Q25K		VEGFB		SNV							ENST00000426086	protein_coding	getma.org/?cm=var&var=hg19,11,64002942,C,A&fts=all		hmmpanther:PTHR12025:SF4,hmmpanther:PTHR12025		Q/K		A	neutral	369/1374		getma.org/?cm=msa&ty=f&p=VEGFB_HUMAN&rb=1&re=46&var=Q25K	tolerated(0.15)	Q7LAP4_HUMAN			YES	VEGFB,missense_variant,p.Gln25Lys,ENST00000309422,NM_003377.4,NM_001243733.1;VEGFB,missense_variant,p.Gln25Lys,ENST00000426086,;DNAJC4,downstream_gene_variant,,ENST00000321685,NM_005528.3;DNAJC4,downstream_gene_variant,,ENST00000321460,;DNAJC4,downstream_gene_variant,,ENST00000355040,;DNAJC4,downstream_gene_variant,,ENST00000535246,;VEGFB,upstream_gene_variant,,ENST00000541681,;RP11-783K16.14,upstream_gene_variant,,ENST00000534988,;RP11-783K16.14,upstream_gene_variant,,ENST00000539963,;DNAJC4,downstream_gene_variant,,ENST00000537109,;DNAJC4,downstream_gene_variant,,ENST00000540945,;DNAJC4,downstream_gene_variant,,ENST00000536006,;VEGFB,upstream_gene_variant,,ENST00000543462,;NUDT22,downstream_gene_variant,,ENST00000534929,;DNAJC4,downstream_gene_variant,,ENST00000542376,;DNAJC4,downstream_gene_variant,,ENST00000538961,;DNAJC4,downstream_gene_variant,,ENST00000543791,;DNAJC4,downstream_gene_variant,,ENST00000543685,;							MODERATE	73/624	Q25K	VEGFB_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000311127		CCDS8062.1			1	
ZPBP2	0	LGGM	GRCh37	17	38024654	38024654	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	20	3	.	.	ENST00000348931.4:c.47C>A	p.Thr16Lys	p.T16K	ENST00000348931	NM_199321.2	16	aCa/aAa	0	1	1	UPI00001D79E4	0	NA	ENST00000348931		ENSG00000186075	20678		23	1.39		HGNC	p.T16K		ZPBP2		SNV							ENST00000377940	protein_coding	getma.org/?cm=var&var=hg19,17,38024654,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15443:SF4,hmmpanther:PTHR15443		T/K		A	low	238/1543		getma.org/?cm=msa&ty=f&p=ZPBP2_HUMAN&rb=1&re=55&var=T16K	deleterious(0.02)				YES	ZPBP2,missense_variant,p.Thr16Lys,ENST00000377940,NM_198844.2;ZPBP2,missense_variant,p.Thr16Lys,ENST00000348931,NM_199321.2;ZPBP2,missense_variant,p.Thr16Lys,ENST00000584588,;ZPBP2,missense_variant,p.Thr16Lys,ENST00000583811,;IKZF3,upstream_gene_variant,,ENST00000346872,NM_012481.4;IKZF3,upstream_gene_variant,,ENST00000535189,NM_001257408.1;IKZF3,upstream_gene_variant,,ENST00000439167,NM_001257409.1;IKZF3,upstream_gene_variant,,ENST00000377958,NM_001257410.1;IKZF3,upstream_gene_variant,,ENST00000377945,NM_001257414.1;IKZF3,upstream_gene_variant,,ENST00000377944,NM_001257411.1;IKZF3,upstream_gene_variant,,ENST00000394189,NM_001257412.1;IKZF3,upstream_gene_variant,,ENST00000377952,NM_001257413.1;IKZF3,upstream_gene_variant,,ENST00000350532,NM_183230.2;IKZF3,upstream_gene_variant,,ENST00000351680,NM_183229.2;IKZF3,upstream_gene_variant,,ENST00000467757,NM_183228.2;IKZF3,upstream_gene_variant,,ENST00000346243,NM_183232.2;IKZF3,upstream_gene_variant,,ENST00000439016,NM_183231.2;IKZF3,upstream_gene_variant,,ENST00000293068,NM_001284514.1;IKZF3,upstream_gene_variant,,ENST00000348427,NM_001284515.1;							MODERATE	47/1017	T16K	ZPBP2_HUMAN			Transcript		benign(0.075)	.	ENSP00000335384		CCDS11352.1			1	
MROH7	0	LGGM	GRCh37	1	55172196	55172196	+	stop_gained,NMD_transcript_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	42	3	.	.	ENST00000414150.2:c.3653C>A	p.Ser1218Ter	p.S1218*	ENST00000414150		1218	tCa/tAa	0	1	1	UPI000198C4E2	0	NA	ENST00000421030		ENSG00000184313	24802		45	0		HGNC	p.S736X		MROH7		SNV							ENST00000454855	protein_coding	getma.org/?cm=var&var=hg19,1,55172196,C,A&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF9,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		S/*		A	NA	3938/4329		NA		C9K0L2_HUMAN,B7ZBM2_HUMAN			YES	MROH7,stop_gained,p.Ser1218Ter,ENST00000421030,NM_001039464.2;MROH7,stop_gained,p.Ser786Ter,ENST00000409996,;MROH7,stop_gained,p.Ser736Ter,ENST00000454855,;MROH7-TTC4,stop_gained,p.Ser1218Ter,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,,ENST00000440217,;MROH7,non_coding_transcript_exon_variant,,ENST00000371287,;MROH7-TTC4,non_coding_transcript_exon_variant,,ENST00000460155,;							HIGH	3653/3972	S1218*	MROH7_HUMAN			Transcript			.	ENSP00000396622		CCDS41342.2			1	
ZNF791	0	LGGM	GRCh37	19	12739373	12739373	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	3	.	.	ENST00000343325.4:c.1030C>A	p.Arg344=	p.R344=	ENST00000343325	NM_153358.2	344	Cga/Aga	0	1	1	UPI0000203455	0		ENST00000343325		ENSG00000173875	26895		28			HGNC	p.R235R		ZNF791		SNV							ENST00000540038	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		A		1192/4554				M0R0E8_HUMAN,F5GXD7_HUMAN,B7Z586_HUMAN			YES	ZNF791,synonymous_variant,p.=,ENST00000343325,NM_153358.2;ZNF791,synonymous_variant,p.=,ENST00000458122,;ZNF791,synonymous_variant,p.=,ENST00000540038,;ZNF791,3_prime_UTR_variant,,ENST00000446165,;ZNF791,downstream_gene_variant,,ENST00000600752,;AC010422.1,upstream_gene_variant,,ENST00000408416,;ZNF490,intron_variant,,ENST00000465656,;ZNF791,downstream_gene_variant,,ENST00000598225,;ZNF791,downstream_gene_variant,,ENST00000597691,;							LOW	1030/1731		ZN791_HUMAN			Transcript			.	ENSP00000342974		CCDS12273.1			1	
SDR42E2	0	LGGM	GRCh37	16	22183642	22183642	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	29	3	.	.	ENST00000602312.1:c.477G>T	p.Met159Ile	p.M159I	ENST00000602312		159	atG/atT	0	1	1	UPI0002B831CA	0		ENST00000602312		ENSG00000183921	35414		32			HGNC	p.M94I		SDR42E2		SNV							ENST00000330898	protein_coding			Gene3D:3.40.50.720,Pfam_domain:PF01073,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF241,Superfamily_domains:SSF51735		M/I		T		477/2528			tolerated(0.09)	R4GN39_HUMAN			YES	SDR42E2,missense_variant,p.Met159Ile,ENST00000602312,;SDR42E2,missense_variant,p.Met94Ile,ENST00000330898,;							MODERATE	477/1167					Transcript		benign(0)	.	ENSP00000473474					1	
MYH7	0	LGGM	GRCh37	14	23889152	23889152	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	3	.	.	ENST00000355349.3:c.3628C>A	p.Leu1210Met	p.L1210M	ENST00000355349	NM_000257.2	1210	Ctg/Atg	0	1	1	UPI000014019B	0	NA	ENST00000355349		ENSG00000092054	7577		28	3.02		HGNC	p.L1210M		MYH7		SNV			1				ENST00000355349	protein_coding	getma.org/?cm=var&var=hg19,14,23889152,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279		L/M		T	medium	3791/6087		getma.org/?cm=msa&ty=f&p=MYH7_HUMAN&rb=1068&re=1926&var=L1210M	deleterious(0.01)	Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,missense_variant,p.Leu1210Met,ENST00000355349,NM_000257.2;MIR208B,upstream_gene_variant,,ENST00000401172,;CTD-2201G16.1,downstream_gene_variant,,ENST00000557368,;							MODERATE	3628/5808	L1210M	MYH7_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000347507		CCDS9601.1			1	
HAO2	0	LGGM	GRCh37	1	119934810	119934810	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	22	3	.	.	ENST00000325945.3:c.849C>A	p.Gly283=	p.G283=	ENST00000325945	NM_016527.2	283	ggC/ggA	0	1	1	UPI000000106A	0		ENST00000325945		ENSG00000116882	4810		25			HGNC	p.G283G		HAO2		SNV							ENST00000325945	protein_coding			Gene3D:3.20.20.70,Pfam_domain:PF01070,PIRSF_domain:PIRSF000138,PROSITE_profiles:PS51349,hmmpanther:PTHR10578,hmmpanther:PTHR10578:SF56,Superfamily_domains:SSF51395		G		A		922/1417							YES	HAO2,synonymous_variant,p.=,ENST00000361035,NM_001005783.1;HAO2,synonymous_variant,p.=,ENST00000325945,NM_016527.2;HAO2,upstream_gene_variant,,ENST00000482991,;							LOW	849/1056		HAOX2_HUMAN			Transcript			.	ENSP00000316339		CCDS901.1			1	
WDR62	0	LGGM	GRCh37	19	36558827	36558827	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	13	3	.	.	ENST00000401500.2:c.797C>T	p.Ala266Val	p.A266V	ENST00000401500	NM_001083961.1	266	gCg/gTg	0	1		UPI0000DBEE90	0	NA	ENST00000270301		ENSG00000075702	24502		16	1.225		HGNC	p.A273V	rs558331862	WDR62		SNV			1				ENST00000427823	protein_coding	getma.org/?cm=var&var=hg19,19,36558827,C,T&fts=all		hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF362		A/V		T	low	797/4632		getma.org/?cm=msa&ty=f&p=WDR62_HUMAN&rb=186&re=385&var=A266V	deleterious(0)					WDR62,missense_variant,p.Ala266Val,ENST00000401500,NM_001083961.1,NM_173636.4;WDR62,missense_variant,p.Ala266Val,ENST00000270301,;WDR62,missense_variant,p.Ala266Val,ENST00000388999,;WDR62,missense_variant,p.Ala288Val,ENST00000427823,;WDR62,non_coding_transcript_exon_variant,,ENST00000378860,;WDR62,upstream_gene_variant,,ENST00000589953,;WDR62,missense_variant,p.Ala266Val,ENST00000587391,;							MODERATE	797/4557	A266V	WDR62_HUMAN			Transcript		benign(0.109)	.	ENSP00000270301		CCDS33001.1			1	
THOC3	0	LGGM	GRCh37	5	175387055	175387055	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	46	3	.	.	ENST00000265097.4:c.973G>T	p.Ala325Ser	p.A325S	ENST00000265097	NM_032361.3	325	Gcc/Tcc	0	1	1	UPI000006DDB3	0	NA	ENST00000265097		ENSG00000051596	19072		49	1.885		HGNC	p.A140S		THOC3		SNV							ENST00000514861	protein_coding	getma.org/?cm=var&var=hg19,5,175387055,C,A&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22839		A/S		A	low	1064/1589		getma.org/?cm=msa&ty=f&p=THOC3_HUMAN&rb=293&re=351&var=A325S	tolerated(0.08)				YES	THOC3,missense_variant,p.Ala325Ser,ENST00000265097,NM_032361.3;THOC3,missense_variant,p.Ala140Ser,ENST00000514861,;THOC3,3_prime_UTR_variant,,ENST00000505969,;THOC3,intron_variant,,ENST00000432305,;THOC3,intron_variant,,ENST00000515016,;THOC3,downstream_gene_variant,,ENST00000513482,;RP11-91H12.4,upstream_gene_variant,,ENST00000502813,;THOC3,downstream_gene_variant,,ENST00000510300,;THOC3,downstream_gene_variant,,ENST00000514250,;THOC3,downstream_gene_variant,,ENST00000511062,;THOC3,downstream_gene_variant,,ENST00000513006,;THOC3,downstream_gene_variant,,ENST00000513118,;							MODERATE	973/1056	A325S	THOC3_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000265097		CCDS4397.1			1	
TMCO6	0	LGGM	GRCh37	5	140023689	140023689	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	46	3	.	.	ENST00000394671.3:c.1110C>A	p.Asn370Lys	p.N370K	ENST00000394671	NM_018502.3	370	aaC/aaA	0	1	1	UPI00003E5FF0	0	NA	ENST00000394671		ENSG00000113119	28814		49	-0.205		HGNC	p.N370K		TMCO6		SNV							ENST00000394671	protein_coding	getma.org/?cm=var&var=hg19,5,140023689,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR16356,Superfamily_domains:SSF48371		N/K		A	neutral	1211/1887		getma.org/?cm=msa&ty=f&p=TMCO6_HUMAN&rb=201&re=400&var=N370K	tolerated(0.25)				YES	TMCO6,missense_variant,p.Asn370Lys,ENST00000394671,NM_018502.3;TMCO6,missense_variant,p.Asn376Lys,ENST00000252100,;TMCO6,missense_variant,p.Asn130Lys,ENST00000537378,;IK,upstream_gene_variant,,ENST00000417647,NM_006083.3;TMCO6,downstream_gene_variant,,ENST00000511410,;IK,upstream_gene_variant,,ENST00000508301,;NDUFA2,downstream_gene_variant,,ENST00000252102,NM_001185012.1,NM_002488.4;IK,upstream_gene_variant,,ENST00000502899,;NDUFA2,downstream_gene_variant,,ENST00000512088,;IK,upstream_gene_variant,,ENST00000513256,;IK,upstream_gene_variant,,ENST00000507593,;MIR3655,upstream_gene_variant,,ENST00000581765,;NDUFA2,intron_variant,,ENST00000510680,;IK,upstream_gene_variant,,ENST00000523672,;TMCO6,non_coding_transcript_exon_variant,,ENST00000510336,;TMCO6,non_coding_transcript_exon_variant,,ENST00000515265,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509605,;TMCO6,downstream_gene_variant,,ENST00000505086,;TMCO6,downstream_gene_variant,,ENST00000514449,;NDUFA2,downstream_gene_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000515653,;TMCO6,downstream_gene_variant,,ENST00000513002,;TMCO6,downstream_gene_variant,,ENST00000504069,;TMCO6,downstream_gene_variant,,ENST00000509217,;IK,upstream_gene_variant,,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000509269,;TMCO6,downstream_gene_variant,,ENST00000394669,;IK,upstream_gene_variant,,ENST00000512827,;							MODERATE	1110/1482	N370K	TMCO6_HUMAN			Transcript		benign(0.009)	.	ENSP00000378166		CCDS4233.2			1	
IBTK	0	LGGM	GRCh37	6	82904265	82904265	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	32	3	.	.	ENST00000306270.7:c.3269C>A	p.Ala1090Asp	p.A1090D	ENST00000306270	NM_015525.2	1090	gCt/gAt	0	1	1	UPI000041929F	0	NA	ENST00000306270		ENSG00000005700	17853		35	1.59		HGNC	p.A889D		IBTK		SNV							ENST00000503631	protein_coding	getma.org/?cm=var&var=hg19,6,82904265,G,T&fts=all		hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2		A/D		T	low	3819/6054		getma.org/?cm=msa&ty=f&p=IBTK_HUMAN&rb=977&re=1259&var=A1090D	tolerated(0.1)				YES	IBTK,missense_variant,p.Ala1090Asp,ENST00000306270,NM_015525.2;IBTK,missense_variant,p.Ala1075Asp,ENST00000510291,;IBTK,missense_variant,p.Ala889Asp,ENST00000503631,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;IBTK,non_coding_transcript_exon_variant,,ENST00000445419,;IBTK,upstream_gene_variant,,ENST00000471036,;							MODERATE	3269/4062	A1090D	IBTK_HUMAN			Transcript		benign(0.112)	.	ENSP00000305721		CCDS34490.1			1	
FAM171A1	0	LGGM	GRCh37	10	15262988	15262988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	34	3	.	.	ENST00000378116.4:c.826C>A	p.Pro276Thr	p.P276T	ENST00000378116	NM_001010924.1	276	Ccc/Acc	0	1	1	UPI00001414CA	0	NA	ENST00000378116		ENSG00000148468	23522		37	2.445		HGNC	p.P276T		FAM171A1		SNV							ENST00000378116	protein_coding	getma.org/?cm=var&var=hg19,10,15262988,G,T&fts=all		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF1		P/T		T	medium	833/3952		getma.org/?cm=msa&ty=f&p=F1711_HUMAN&rb=34&re=888&var=P276T	deleterious(0)				YES	FAM171A1,missense_variant,p.Pro276Thr,ENST00000378116,NM_001010924.1;FAM171A1,non_coding_transcript_exon_variant,,ENST00000477161,;							MODERATE	826/2673	P276T	F1711_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000367356		CCDS31154.1			1	
PPM1K	0	LGGM	GRCh37	4	89192187	89192187	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	3	.	.	ENST00000608933.1:c.542-2129C>A		*181*	ENST00000608933	NM_152542.4			0	1	1	UPI00000473F1	0		ENST00000608933		ENSG00000163644	25415		28			HGNC	p.S232S		PPM1K		SNV			1				ENST00000506423	protein_coding							T		-/6484							YES	PPM1K,synonymous_variant,p.=,ENST00000315194,;PPM1K,intron_variant,,ENST00000608933,NM_152542.4;PPM1K,intron_variant,,ENST00000295908,;PPM1K,intron_variant,,ENST00000508256,;PPM1K,intron_variant,,ENST00000510548,;PPM1K,downstream_gene_variant,,ENST00000514204,;RNU6-112P,downstream_gene_variant,,ENST00000363599,;PPM1K,non_coding_transcript_exon_variant,,ENST00000506423,;PPM1K,intron_variant,,ENST00000511506,;PPM1K,downstream_gene_variant,,ENST00000513546,;							MODIFIER	-/1119					Transcript			.	ENSP00000477341		CCDS3629.1			1	
KIAA0196	0	LGGM	GRCh37	8	126085394	126085394	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	52	4	.	.	ENST00000318410.7:c.1150+1G>T		p.X384_splice	ENST00000318410	NM_014846.3			0	1	1	UPI000013943B	0		ENST00000318410		ENSG00000164961	28984		56			HGNC	-		KIAA0196		SNV			1				ENST00000318410	protein_coding							A		-/4187				Q53EL1_HUMAN,E7EQI7_HUMAN,E5RFU6_HUMAN			YES	KIAA0196,splice_donor_variant,,ENST00000318410,NM_014846.3;KIAA0196,splice_donor_variant,,ENST00000517845,;KIAA0196,downstream_gene_variant,,ENST00000523297,;							HIGH	1150/3480		STRUM_HUMAN			Transcript			.	ENSP00000318016		CCDS6355.1			1	
FMN2	0	LGGM	GRCh37	1	240256804	240256804	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	26	4	.	.	ENST00000319653.9:c.1395G>A	p.Pro465=	p.P465=	ENST00000319653	NM_020066.4	465	ccG/ccA	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		30			HGNC	p.P465P	rs761311789	FMN2	6.61E-05	SNV			1				ENST00000319653	protein_coding			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185		P		A		1625/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,synonymous_variant,p.=,ENST00000319653,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;							LOW	1395/5169		FMN2_HUMAN			Transcript			.	ENSP00000318884	8.26E-06	CCDS31069.2			1	
HS3ST1	0	LGGM	GRCh37	4	11401459	11401459	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	7	4	.	.	ENST00000002596.5:c.171C>A	p.Thr57=	p.T57=	ENST00000002596	NM_005114.2	57	acC/acA	0	1	1	UPI0000072A23	0		ENST00000002596		ENSG00000002587	5194		11			HGNC	p.T57T		HS3ST1		SNV							ENST00000002596	protein_coding			hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		T		T		1346/8031				Q05CH3_HUMAN,E9PDE3_HUMAN			YES	HS3ST1,synonymous_variant,p.=,ENST00000002596,NM_005114.2;HS3ST1,synonymous_variant,p.=,ENST00000510712,;HS3ST1,synonymous_variant,p.=,ENST00000514690,;							LOW	171/924		HS3S1_HUMAN			Transcript			.	ENSP00000002596		CCDS3408.1			1	
ETV3	0	LGGM	GRCh37	1	157094752	157094752	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	41	4	.	.	ENST00000368192.4:c.1420C>T	p.Leu474Phe	p.L474F	ENST00000368192	NM_001145312.1	474	Ctt/Ttt	0	1	1	UPI0000071047	0	NA	ENST00000368192		ENSG00000117036	3492		45	1.385		HGNC	p.L474F		ETV3		SNV							ENST00000368192	protein_coding	getma.org/?cm=var&var=hg19,1,157094752,G,A&fts=all				L/F		A	low	1485/5254		getma.org/?cm=msa&ty=f&p=ETV3_HUMAN&rb=319&re=512&var=L474F	deleterious_low_confidence(0)				YES	ETV3,missense_variant,p.Leu474Phe,ENST00000368192,NM_001145312.1;CYCSP52,upstream_gene_variant,,ENST00000422857,;							MODERATE	1420/1539	L474F	ETV3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000357175		CCDS44250.1			1	
YWHAQ	0	LGGM	GRCh37	2	9728305	9728305	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	43	4	.	.	ENST00000381844.4:c.571C>A	p.Leu191Met	p.L191M	ENST00000381844		191	Ctg/Atg	0	1		UPI0000124E01	0	getma.org/pdb.php?prot=1433T_HUMAN&from=3&to=236&var=L191M	ENST00000238081		ENSG00000134308	12854		47	2.295		HGNC	p.L191M		YWHAQ		SNV							ENST00000381844	protein_coding	getma.org/?cm=var&var=hg19,2,9728305,G,T&fts=all		Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,Prints_domain:PR00305,hmmpanther:PTHR18860,SMART_domains:SM00101,Superfamily_domains:SSF48445		L/M		T	medium	727/2208		getma.org/?cm=msa&ty=f&p=1433T_HUMAN&rb=3&re=236&var=L191M	deleterious_low_confidence(0.05)	Q53S41_HUMAN,Q53RR5_HUMAN,E9PG15_HUMAN,B4DY04_HUMAN				YWHAQ,missense_variant,p.Leu191Met,ENST00000381844,;YWHAQ,missense_variant,p.Leu191Met,ENST00000238081,NM_006826.3;YWHAQ,downstream_gene_variant,,ENST00000446619,;YWHAQ,non_coding_transcript_exon_variant,,ENST00000474715,;							MODERATE	571/738	L191M	1433T_HUMAN			Transcript		possibly_damaging(0.508)	.	ENSP00000238081		CCDS1666.1			1	
CD5	0	LGGM	GRCh37	11	60889151	60889151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	10	4	.	.	ENST00000347785.3:c.874C>A	p.Arg292Ser	p.R292S	ENST00000347785	NM_014207.3	292	Cgc/Agc	0	1	1	UPI000013D472	0	getma.org/pdb.php?prot=CD5_HUMAN&from=279&to=368&var=R292S	ENST00000347785		ENSG00000110448	1685		14	2.39		HGNC	p.R292S	COSM340352	CD5		SNV						1	ENST00000347785	protein_coding	getma.org/?cm=var&var=hg19,11,60889151,C,A&fts=all		Gene3D:3.10.250.10,Pfam_domain:PF00530,Prints_domain:PR01409,PROSITE_profiles:PS50287,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF265,SMART_domains:SM00202,Superfamily_domains:SSF56487		R/S		A	medium	1040/3221		getma.org/?cm=msa&ty=f&p=CD5_HUMAN&rb=279&re=368&var=R292S	tolerated(0.15)	H6D9U9_HUMAN			YES	CD5,missense_variant,p.Arg292Ser,ENST00000347785,NM_014207.3;CD5,downstream_gene_variant,,ENST00000544014,;					1		MODERATE	874/1488	R292S	CD5_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000342681		CCDS8000.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1851504	1851504	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	65	4	.	.	ENST00000349830.3:c.1708C>A	p.Leu570Met	p.L570M	ENST00000349830	NM_014629.2	570	Ctg/Atg	0	1		UPI0000D89824	0	getma.org/pdb.php?prot=ARHGA_HUMAN&from=425&to=607&var=L595M	ENST00000398564		ENSG00000104728	14103		69	3.155		HGNC	p.L243M		ARHGEF10		SNV			1				ENST00000522435	protein_coding	getma.org/?cm=var&var=hg19,8,1851504,C,A&fts=all		Gene3D:1.20.900.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,Low_complexity_(Seg):seg,SMART_domains:SM00325,Superfamily_domains:SSF48065		L/M		A	medium	1783/5480		getma.org/?cm=msa&ty=f&p=ARHGA_HUMAN&rb=425&re=607&var=L595M	deleterious(0)					ARHGEF10,missense_variant,p.Leu594Met,ENST00000518288,;ARHGEF10,missense_variant,p.Leu570Met,ENST00000349830,NM_014629.2;ARHGEF10,missense_variant,p.Leu595Met,ENST00000398564,;ARHGEF10,missense_variant,p.Leu532Met,ENST00000520359,;ARHGEF10,missense_variant,p.Leu595Met,ENST00000262112,;ARHGEF10,missense_variant,p.Leu243Met,ENST00000522435,;ARHGEF10,missense_variant,p.Leu556Met,ENST00000398560,;ARHGEF10,upstream_gene_variant,,ENST00000524212,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000523711,;ARHGEF10,non_coding_transcript_exon_variant,,ENST00000520972,;							MODERATE	1783/4110	L595M	ARHGA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381571					1	
SLC34A2	0	LGGM	GRCh37	4	25674785	25674785	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	61	4	.	.	ENST00000382051.3:c.1125C>A	p.Val375=	p.V375=	ENST00000382051	NM_006424.2	375	gtC/gtA	0	1	1	UPI000013DF24	0		ENST00000382051		ENSG00000157765	11020		65			HGNC	p.V374V		SLC34A2		SNV			1				ENST00000504570	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR01013,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23		V		A		1175/4122				D6RBC0_HUMAN			YES	SLC34A2,synonymous_variant,p.=,ENST00000382051,NM_006424.2,NM_001177998.1;SLC34A2,synonymous_variant,p.=,ENST00000503434,NM_001177999.1;SLC34A2,synonymous_variant,p.=,ENST00000504570,;SLC34A2,downstream_gene_variant,,ENST00000510033,;							LOW	1125/2073		NPT2B_HUMAN			Transcript			.	ENSP00000371483		CCDS3435.1			1	
GPR148	0	LGGM	GRCh37	2	131487091	131487091	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	16	4	.	.	ENST00000309926.4:c.367A>C	p.Ile123Leu	p.I123L	ENST00000309926	NM_207364.2	123	Att/Ctt	0	1	1	UPI0000048E0D	0	getma.org/pdb.php?prot=GP148_HUMAN&from=68&to=307&var=I123L	ENST00000309926		ENSG00000173302	23623		20	-0.345		HGNC	p.I123L		GPR148		SNV							ENST00000309926	protein_coding	getma.org/?cm=var&var=hg19,2,131487091,A,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF114,Superfamily_domains:SSF81321		I/L		C	neutral	449/1267		getma.org/?cm=msa&ty=f&p=GP148_HUMAN&rb=68&re=307&var=I123L	tolerated(0.56)				YES	GPR148,missense_variant,p.Ile123Leu,ENST00000309926,NM_207364.2;							MODERATE	367/1044	I123L	GP148_HUMAN			Transcript		benign(0.007)	.	ENSP00000308908		CCDS2163.1			1	
HS3ST1	0	LGGM	GRCh37	4	11401460	11401460	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	7	4	.	.	ENST00000002596.5:c.170C>A	p.Thr57Asn	p.T57N	ENST00000002596	NM_005114.2	57	aCc/aAc	0	1	1	UPI0000072A23	0	getma.org/pdb.php?prot=HS3S1_HUMAN&from=54&to=298&var=T57N	ENST00000002596		ENSG00000002587	5194		11	1.355		HGNC	p.T57N		HS3ST1		SNV							ENST00000002596	protein_coding	getma.org/?cm=var&var=hg19,4,11401460,G,T&fts=all		hmmpanther:PTHR10605:SF16,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		T/N		T	low	1345/8031		getma.org/?cm=msa&ty=f&p=HS3S1_HUMAN&rb=54&re=298&var=T57N	tolerated(0.05)	Q05CH3_HUMAN,E9PDE3_HUMAN			YES	HS3ST1,missense_variant,p.Thr57Asn,ENST00000002596,NM_005114.2;HS3ST1,missense_variant,p.Thr57Asn,ENST00000510712,;HS3ST1,missense_variant,p.Thr57Asn,ENST00000514690,;							MODERATE	170/924	T57N	HS3S1_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000002596		CCDS3408.1			1	
MCU	0	LGGM	GRCh37	10	74631307	74631307	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	31	4	.	.	ENST00000373053.3:c.830C>A	p.Ala277Glu	p.A277E	ENST00000373053	NM_138357.2	277	gCa/gAa	0	1	1	UPI000006F233	0	NA	ENST00000373053		ENSG00000156026	23526		35	2.54		HGNC	p.A228E		MCU		SNV							ENST00000536019	protein_coding	getma.org/?cm=var&var=hg19,10,74631307,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13462,hmmpanther:PTHR13462:SF13,Pfam_domain:PF04678		A/E		A	medium	851/2949		getma.org/?cm=msa&ty=f&p=MCU_HUMAN&rb=201&re=351&var=A277E	deleterious(0)				YES	MCU,missense_variant,p.Ala228Glu,ENST00000536019,NM_001270680.1;MCU,missense_variant,p.Ala277Glu,ENST00000373053,NM_138357.2;MCU,missense_variant,p.Ala256Glu,ENST00000357157,NM_001270679.1;MCU,downstream_gene_variant,,ENST00000604152,;MCU,non_coding_transcript_exon_variant,,ENST00000605416,;MCU,non_coding_transcript_exon_variant,,ENST00000603118,;MCU,3_prime_UTR_variant,,ENST00000605597,;MCU,downstream_gene_variant,,ENST00000604679,;MCU,downstream_gene_variant,,ENST00000604372,;MCU,downstream_gene_variant,,ENST00000483185,;							MODERATE	830/1056	A277E	MCU_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000362144		CCDS7317.1			1	
DGKI	0	LGGM	GRCh37	7	137374723	137374723	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	16	4	.	.	ENST00000288490.5:c.427C>A	p.Gln143Lys	p.Q143K	ENST00000288490	NM_004717.2	143	Cag/Aag	0	1	1	UPI000012DD23	0	NA	ENST00000288490		ENSG00000157680	2855		20	1.76		HGNC	p.Q143K		DGKI		SNV							ENST00000446122	protein_coding	getma.org/?cm=var&var=hg19,7,137374723,G,T&fts=all		hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF41		Q/K		T	low	428/3895		getma.org/?cm=msa&ty=f&p=DGKI_HUMAN&rb=1&re=200&var=Q143K	deleterious(0.02)	B3KR69_HUMAN			YES	DGKI,missense_variant,p.Gln143Lys,ENST00000424189,;DGKI,missense_variant,p.Gln143Lys,ENST00000446122,;DGKI,missense_variant,p.Gln143Lys,ENST00000288490,NM_004717.2;DGKI,intron_variant,,ENST00000453654,;DGKI,non_coding_transcript_exon_variant,,ENST00000470895,;DGKI,non_coding_transcript_exon_variant,,ENST00000483619,;							MODERATE	427/3198	Q143K	DGKI_HUMAN			Transcript		benign(0.301)	.	ENSP00000288490		CCDS5845.1			1	
ENTPD7	0	LGGM	GRCh37	10	101445607	101445607	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	15	4	.	.	ENST00000370489.4:c.607C>A	p.Leu203Ile	p.L203I	ENST00000370489	NM_020354.3	203	Ctc/Atc	0	1	1	UPI0000047E1C	0	getma.org/pdb.php?prot=ENTP7_HUMAN&from=75&to=536&var=L203I	ENST00000370489		ENSG00000198018	19745		19	2.65		HGNC	p.L203I	COSM4010936	ENTPD7		SNV						1	ENST00000370489	protein_coding	getma.org/?cm=var&var=hg19,10,101445607,C,A&fts=all		Pfam_domain:PF01150,hmmpanther:PTHR11782,hmmpanther:PTHR11782:SF37		L/I		A	medium	785/3550		getma.org/?cm=msa&ty=f&p=ENTP7_HUMAN&rb=75&re=536&var=L203I	tolerated(0.08)				YES	ENTPD7,missense_variant,p.Leu203Ile,ENST00000370489,NM_020354.3;					1		MODERATE	607/1815	L203I	ENTP7_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000359520		CCDS7480.1			1	
ALKBH1	0	LGGM	GRCh37	14	78140414	78140414	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	19	4	.	.	ENST00000216489.3:c.911G>T	p.Cys304Phe	p.C304F	ENST00000216489	NM_006020.2	304	tGc/tTc	0	1	1	UPI000012585D	0	NA	ENST00000216489		ENSG00000100601	17911		23	1.24		HGNC	p.C304F	rs775236107	ALKBH1		SNV							ENST00000216489	protein_coding	getma.org/?cm=var&var=hg19,14,78140414,C,A&fts=all		Pfam_domain:PF13532,hmmpanther:PTHR16557,PROSITE_profiles:PS51471		C/F		A	low	927/2594	1.50E-05	getma.org/?cm=msa&ty=f&p=ALKB1_HUMAN&rb=98&re=344&var=C304F	deleterious(0.01)				YES	ALKBH1,missense_variant,p.Cys304Phe,ENST00000216489,NM_006020.2;ALKBH1,3_prime_UTR_variant,,ENST00000557057,;ALKBH1,downstream_gene_variant,,ENST00000555100,;							MODERATE	911/1170	C304F	ALKB1_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000216489	8.24E-06	CCDS32127.1			1	
KEAP1	0	LGGM	GRCh37	19	10610300	10610300	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	9	4	.	.	ENST00000171111.5:c.410T>C	p.Ile137Thr	p.I137T	ENST00000171111	NM_203500.1	137	aTt/aCt	0	1	1	UPI000007139C	0	getma.org/pdb.php?prot=KEAP1_HUMAN&from=67&to=179&var=I137T	ENST00000171111		ENSG00000079999	23177		13	3.04		HGNC	p.I137T		KEAP1		SNV							ENST00000591419	protein_coding	getma.org/?cm=var&var=hg19,19,10610300,A,G&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695		I/T		G	medium	958/2955		getma.org/?cm=msa&ty=f&p=KEAP1_HUMAN&rb=67&re=179&var=I137T	deleterious(0)	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,missense_variant,p.Ile137Thr,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Ile137Thr,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Ile137Thr,ENST00000591419,;KEAP1,missense_variant,p.Ile137Thr,ENST00000592055,;KEAP1,missense_variant,p.Ile137Thr,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;							MODERATE	410/1875	I137T	KEAP1_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000171111		CCDS12239.1			1	
SRPX2	0	LGGM	GRCh37	X	99922309	99922309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	7	4	.	.	ENST00000373004.3:c.1000C>A	p.Leu334Ile	p.L334I	ENST00000373004	NM_014467.2	334	Ctc/Atc	0	1	1	UPI000006CCC6	0	NA	ENST00000373004		ENSG00000102359	30668		11	1.5		HGNC	p.L334I		SRPX2		SNV			1				ENST00000373004	protein_coding	getma.org/?cm=var&var=hg19,X,99922309,C,A&fts=all		hmmpanther:PTHR19325:SF93,hmmpanther:PTHR19325		L/I		A	low	1428/2138		getma.org/?cm=msa&ty=f&p=SRPX2_HUMAN&rb=333&re=454&var=L334I	deleterious(0.04)				YES	SRPX2,missense_variant,p.Leu334Ile,ENST00000373004,NM_014467.2;							MODERATE	1000/1398	L334I	SRPX2_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000362095		CCDS14471.1			1	
UBXN1	0	LGGM	GRCh37	11	62444368	62444368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	64	4	.	.	ENST00000294119.2:c.761G>T	p.Gly254Val	p.G254V	ENST00000294119	NM_015853.3	254	gGc/gTc	0	1		UPI0000073CEA	0	getma.org/pdb.php?prot=UBXN1_HUMAN&from=208&to=293&var=G254V	ENST00000301935		ENSG00000162191	18402		68	2.035		HGNC	p.G254V		UBXN1		SNV							ENST00000534176	protein_coding	getma.org/?cm=var&var=hg19,11,62444368,C,A&fts=all		Superfamily_domains:SSF54236,SMART_domains:SM00166,Gene3D:3.10.20.90,Pfam_domain:PF00789,hmmpanther:PTHR13020,PROSITE_profiles:PS50033		G/V		A	medium	928/1153		getma.org/?cm=msa&ty=f&p=UBXN1_HUMAN&rb=208&re=293&var=G254V	tolerated(0.08)	E9PJ81_HUMAN,B4E0P8_HUMAN				UBXN1,missense_variant,p.Gly254Val,ENST00000294119,NM_015853.3;UBXN1,missense_variant,p.Gly254Val,ENST00000301935,NM_001286077.1;UBXN1,missense_variant,p.Gly250Val,ENST00000529640,;UBXN1,missense_variant,p.Gly254Val,ENST00000534176,;UBXN1,intron_variant,,ENST00000533000,;C11orf83,downstream_gene_variant,,ENST00000531323,;C11orf83,downstream_gene_variant,,ENST00000377953,NM_001085372.2;C11orf48,upstream_gene_variant,,ENST00000528862,;UBXN1,downstream_gene_variant,,ENST00000524762,;UBXN1,downstream_gene_variant,,ENST00000525004,;UBXN1,non_coding_transcript_exon_variant,,ENST00000532904,;UBXN1,non_coding_transcript_exon_variant,,ENST00000533476,;UBXN1,non_coding_transcript_exon_variant,,ENST00000525717,;UBXN1,downstream_gene_variant,,ENST00000527421,;UBXN1,downstream_gene_variant,,ENST00000528907,;UBXN1,downstream_gene_variant,,ENST00000526919,;UBXN1,downstream_gene_variant,,ENST00000533908,;UBXN1,downstream_gene_variant,,ENST00000436354,;UBXN1,downstream_gene_variant,,ENST00000531056,;UBXN1,downstream_gene_variant,,ENST00000531625,;							MODERATE	761/894	G254V	UBXN1_HUMAN			Transcript		benign(0.045)	.	ENSP00000303991		CCDS66105.1			1	
RPL10A	0	LGGM	GRCh37	6	35436628	35436628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	10	4	.	.	ENST00000322203.6:c.58G>T	p.Gly20Trp	p.G20W	ENST00000322203	NM_007104.4	20	Ggg/Tgg	0	1	1	UPI0000025FC8	0	getma.org/pdb.php?prot=RL10A_HUMAN&from=7&to=213&var=G20W	ENST00000322203		ENSG00000198755	10299		14	2.44		HGNC	p.G20W		RPL10A		SNV							ENST00000322203	protein_coding	getma.org/?cm=var&var=hg19,6,35436628,G,T&fts=all		Gene3D:3.30.190.20,PIRSF_domain:PIRSF002155,hmmpanther:PTHR23105,hmmpanther:PTHR23105:SF36,Superfamily_domains:SSF56808		G/W		T	medium	85/716		getma.org/?cm=msa&ty=f&p=RL10A_HUMAN&rb=7&re=213&var=G20W	deleterious(0)				YES	RPL10A,missense_variant,p.Gly20Trp,ENST00000322203,NM_007104.4;TEAD3,downstream_gene_variant,,ENST00000338863,NM_003214.3;TEAD3,downstream_gene_variant,,ENST00000402886,;FANCE,downstream_gene_variant,,ENST00000229769,NM_021922.2;RPL10A,non_coding_transcript_exon_variant,,ENST00000467020,;RPL10A,non_coding_transcript_exon_variant,,ENST00000464112,;RPL10A,non_coding_transcript_exon_variant,,ENST00000478340,;RPL10A,non_coding_transcript_exon_variant,,ENST00000490335,;							MODERATE	58/654	G20W	RL10A_HUMAN			Transcript		possibly_damaging(0.667)	.	ENSP00000363018		CCDS4806.1			1	
DCHS2	0	LGGM	GRCh37	4	155237003	155237003	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	21	5	.	.	ENST00000357232.4:c.3792T>C	p.Asp1264=	p.D1264=	ENST00000357232	NM_017639.3	1264	gaT/gaC	0	1	1	UPI000035B018	0		ENST00000357232		ENSG00000197410	23111		26			HGNC	p.D1264D		DCHS2		SNV							ENST00000357232	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		D		G		3792/11040				B3KT73_HUMAN			YES	DCHS2,synonymous_variant,p.=,ENST00000357232,NM_017639.3;							LOW	3792/8751		PCD23_HUMAN			Transcript			.	ENSP00000349768		CCDS3785.1			1	
NOL4	0	LGGM	GRCh37	18	31463252	31463252	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	95	5	.	.	ENST00000261592.5:c.1679G>A	p.Gly560Glu	p.G560E	ENST00000261592	NM_001198546.1	560	gGg/gAg	0	1	1	UPI000059D504	0	NA	ENST00000261592		ENSG00000101746	7870		100	1.735		HGNC	p.G341E		NOL4		SNV							ENST00000535475	protein_coding	getma.org/?cm=var&var=hg19,18,31463252,C,T&fts=all		hmmpanther:PTHR12449,hmmpanther:PTHR12449:SF8,Low_complexity_(Seg):seg		G/E		T	low	1977/3957		getma.org/?cm=msa&ty=f&p=NOL4_HUMAN&rb=1&re=636&var=G560E	tolerated(0.1)				YES	NOL4,missense_variant,p.Gly560Glu,ENST00000261592,NM_001198546.1,NM_003787.4;NOL4,missense_variant,p.Gly344Glu,ENST00000269185,NM_001198548.1;NOL4,missense_variant,p.Gly458Glu,ENST00000589544,;NOL4,missense_variant,p.Gly341Glu,ENST00000535475,;NOL4,missense_variant,p.Gly486Glu,ENST00000538587,NM_001198547.1;NOL4,missense_variant,p.Gly480Glu,ENST00000590712,;NOL4,missense_variant,p.Gly275Glu,ENST00000535384,NM_001198549.1;NOL4,downstream_gene_variant,,ENST00000586553,;NOL4,3_prime_UTR_variant,,ENST00000586314,;							MODERATE	1679/1917	G560E	NOL4_HUMAN			Transcript		benign(0.197)	.	ENSP00000261592		CCDS11907.2			1	
DIAPH3	0	LGGM	GRCh37	13	60590079	60590079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	13	7	.	.	ENST00000400324.4:c.739A>G	p.Ile247Val	p.I247V	ENST00000400324	NM_001042517.1	247	Ata/Gta	0	1	1	UPI0000DAC774	0	getma.org/pdb.php?prot=DIAP3_HUMAN&from=113&to=297&var=I247V	ENST00000400324		ENSG00000139734	15480		20	1.795		HGNC	p.I236V		DIAPH3		SNV			1				ENST00000377908	protein_coding	getma.org/?cm=var&var=hg19,13,60590079,T,C&fts=all		Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Superfamily_domains:SSF48371		I/V		C	low	960/4804		getma.org/?cm=msa&ty=f&p=DIAP3_HUMAN&rb=113&re=297&var=I247V	tolerated(0.16)				YES	DIAPH3,missense_variant,p.Ile247Val,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Ile247Val,ENST00000400330,;DIAPH3,missense_variant,p.Ile236Val,ENST00000377908,;DIAPH3,missense_variant,p.Ile247Val,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Ile201Val,ENST00000400320,NM_001258367.1;DIAPH3,missense_variant,p.Ile177Val,ENST00000400319,NM_001258368.1;DIAPH3-AS1,intron_variant,,ENST00000435636,;DIAPH3-AS1,intron_variant,,ENST00000422052,;DIAPH3-AS1,intron_variant,,ENST00000432995,;DIAPH3,upstream_gene_variant,,ENST00000465066,;DIAPH3,upstream_gene_variant,,ENST00000498416,;							MODERATE	739/3582	I247V	DIAP3_HUMAN			Transcript		benign(0.03)	.	ENSP00000383178		CCDS41898.1			1	
CDC123	0	LGGM	GRCh37	10	12272953	12272953	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	12	7	.	.	ENST00000281141.4:c.447T>G	p.Ile149Met	p.I149M	ENST00000281141	NM_006023.2	149	atT/atG	0	1	1	UPI000006FE36	0	NA	ENST00000281141		ENSG00000151465	16827		19	1.845		HGNC	p.I117M		CDC123		SNV							ENST00000429258	protein_coding	getma.org/?cm=var&var=hg19,10,12272953,T,G&fts=all		Pfam_domain:PF07065,PIRSF_domain:PIRSF007807,hmmpanther:PTHR15323,hmmpanther:PTHR15323:SF6		I/M		G	low	727/1542		getma.org/?cm=msa&ty=f&p=CD123_HUMAN&rb=14&re=316&var=I149M	tolerated(0.06)				YES	CDC123,missense_variant,p.Ile149Met,ENST00000281141,NM_006023.2;CDC123,missense_variant,p.Ile149Met,ENST00000378900,;CDC123,missense_variant,p.Ile3Met,ENST00000440613,;CDC123,missense_variant,p.Ile149Met,ENST00000429258,;CDC123,missense_variant,p.Ile117Met,ENST00000442050,;CDC123,non_coding_transcript_exon_variant,,ENST00000455773,;CDC123,non_coding_transcript_exon_variant,,ENST00000498747,;							MODERATE	447/1011	I149M	CD123_HUMAN			Transcript		benign(0.013)	.	ENSP00000281141		CCDS7090.1			1	
CCDC61	0	LGGM	GRCh37	19	46506398	46506398	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	7	7	.	.	ENST00000595358.1:c.122A>G	p.Gln41Arg	p.Q41R	ENST00000595358	NM_001267723.1	41	cAg/cGg	0	1	1	UPI000040C0FF	0	NA	ENST00000595358		ENSG00000104983	33629		14	0.315		HGNC	p.Q41R		CCDC61		SNV							ENST00000596687	protein_coding	getma.org/?cm=var&var=hg19,19,46506398,A,G&fts=all		hmmpanther:PTHR22691:SF1,hmmpanther:PTHR22691		Q/R		G	neutral	171/1817		getma.org/?cm=msa&ty=f&p=CCD61_HUMAN&rb=1&re=163&var=Q41R	deleterious(0)	M0R0U9_HUMAN,M0QYL5_HUMAN,M0QY15_HUMAN			YES	CCDC61,missense_variant,p.Gln98Arg,ENST00000263284,;CCDC61,missense_variant,p.Gln41Arg,ENST00000595358,NM_001267723.1;CCDC61,missense_variant,p.Gln41Arg,ENST00000536603,;CCDC61,missense_variant,p.Gln41Arg,ENST00000594087,;CCDC61,missense_variant,p.Gln41Arg,ENST00000594672,;CCDC61,missense_variant,p.Gln41Arg,ENST00000596687,;CCDC61,non_coding_transcript_exon_variant,,ENST00000599044,;CCDC61,non_coding_transcript_exon_variant,,ENST00000596161,;							MODERATE	122/1539	Q41R				Transcript		benign(0.413)	.	ENSP00000471454		CCDS46120.2			1	
GALNT18	0	LGGM	GRCh37	11	11362552	11362552	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	8	.	.	ENST00000227756.4:c.1093-1G>A		p.X365_splice	ENST00000227756	NM_198516.2			0	1	1	UPI000004B63C	0		ENST00000227756		ENSG00000110328	30488		33			HGNC	-		GALNT18		SNV							ENST00000227756	protein_coding							T		-/2504				Q58A54_HUMAN			YES	GALNT18,splice_acceptor_variant,,ENST00000227756,NM_198516.2;							HIGH	1093/1824		GLT18_HUMAN			Transcript			.	ENSP00000227756		CCDS7807.1			1	
DIAPH3	0	LGGM	GRCh37	13	60667830	60667830	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	6	8	.	.	ENST00000400324.4:c.427T>C	p.Leu143=	p.L143=	ENST00000400324	NM_001042517.1	143	Ttg/Ctg	0	1	1	UPI0000DAC774	0		ENST00000400324		ENSG00000139734	15480	8.70E-05	14			HGNC	p.L132L	rs779138755	DIAPH3		SNV			1				ENST00000377908	protein_coding			Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Superfamily_domains:SSF48371		L		G		648/4804	1.51E-05						YES	DIAPH3,synonymous_variant,p.=,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,synonymous_variant,p.=,ENST00000400330,;DIAPH3,synonymous_variant,p.=,ENST00000377908,;DIAPH3,synonymous_variant,p.=,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,synonymous_variant,p.=,ENST00000400319,NM_001258368.1;DIAPH3,intron_variant,,ENST00000400320,NM_001258367.1;							LOW	427/3582		DIAP3_HUMAN			Transcript			.	ENSP00000383178	1.66E-05	CCDS41898.1			1	
DDIT3	0	LGGM	GRCh37	12	57911222	57911222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	20	8	.	.	ENST00000551116.1:c.37G>T	p.Asp13Tyr	p.D13Y	ENST00000551116	NM_001195054.1	13	Gat/Tat	0	1		UPI0000000C56	0	NA	ENST00000346473		ENSG00000175197	2726		28	0		HGNC	p.D13Y		DDIT3		SNV			1				ENST00000551116	protein_coding	getma.org/?cm=var&var=hg19,12,57911222,C,A&fts=all						A	neutral	-/906		getma.org/?cm=msa&ty=f&p=F8VS99_HUMAN&rb=1&re=192&var=D13Y		Q53YD1_HUMAN				DDIT3,splice_acceptor_variant,,ENST00000346473,NM_004083.5,NM_001195057.1;DDIT3,missense_variant,p.Asp13Tyr,ENST00000551116,NM_001195054.1,NM_001195056.1,NM_001195055.1,NM_001195053.1;DDIT3,missense_variant,p.Asp13Tyr,ENST00000552740,;DDIT3,missense_variant,p.Asp13Tyr,ENST00000547526,;DDIT3,intron_variant,,ENST00000547303,;MARS,downstream_gene_variant,,ENST00000262027,NM_004990.3;MARS,downstream_gene_variant,,ENST00000315473,;MARS,downstream_gene_variant,,ENST00000552914,;MARS,downstream_gene_variant,,ENST00000547665,;MBD6,upstream_gene_variant,,ENST00000546805,;MBD6,upstream_gene_variant,,ENST00000548887,;MBD6,upstream_gene_variant,,ENST00000551351,;MARS,downstream_gene_variant,,ENST00000548944,;MIR616,downstream_gene_variant,,ENST00000385293,;RN7SL312P,downstream_gene_variant,,ENST00000582079,;MBD6,upstream_gene_variant,,ENST00000549231,;MARS,3_prime_UTR_variant,,ENST00000537638,;MARS,downstream_gene_variant,,ENST00000545888,;MARS,downstream_gene_variant,,ENST00000548202,;MARS,downstream_gene_variant,,ENST00000549048,;MARS,downstream_gene_variant,,ENST00000546971,;MARS,downstream_gene_variant,,ENST00000551172,;MARS,downstream_gene_variant,,ENST00000548630,;MARS,downstream_gene_variant,,ENST00000552499,;MARS,downstream_gene_variant,,ENST00000551805,;							HIGH	-/510	D13Y	DDIT3_HUMAN			Transcript			.	ENSP00000340671		CCDS8943.1			1	
DIAPH3	0	LGGM	GRCh37	13	60667787	60667787	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	3	8	.	.	ENST00000400324.4:c.470A>G	p.Gln157Arg	p.Q157R	ENST00000400324	NM_001042517.1	157	cAg/cGg	0	1	1	UPI0000DAC774	0	getma.org/pdb.php?prot=DIAP3_HUMAN&from=113&to=297&var=Q157R	ENST00000400324		ENSG00000139734	15480		11	2.67		HGNC	p.Q146R		DIAPH3		SNV			1				ENST00000377908	protein_coding	getma.org/?cm=var&var=hg19,13,60667787,T,C&fts=all		Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF198,Superfamily_domains:SSF48371		Q/R		C	medium	691/4804		getma.org/?cm=msa&ty=f&p=DIAP3_HUMAN&rb=113&re=297&var=Q157R	deleterious(0.02)				YES	DIAPH3,missense_variant,p.Gln157Arg,ENST00000400324,NM_001042517.1,NM_001258366.1;DIAPH3,missense_variant,p.Gln157Arg,ENST00000400330,;DIAPH3,missense_variant,p.Gln146Arg,ENST00000377908,;DIAPH3,missense_variant,p.Gln157Arg,ENST00000267215,NM_001258369.1,NM_030932.3;DIAPH3,missense_variant,p.Gln87Arg,ENST00000400319,NM_001258368.1;DIAPH3,intron_variant,,ENST00000400320,NM_001258367.1;							MODERATE	470/3582	Q157R	DIAP3_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000383178		CCDS41898.1			1	
TBC1D1	0	LGGM	GRCh37	4	38091738	38091738	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	26	8	.	.	ENST00000261439.4:c.2236G>C	p.Ala746Pro	p.A746P	ENST00000261439	NM_015173.3	746	Gcc/Ccc	0	1	1	UPI0000367235	0	NA	ENST00000261439		ENSG00000065882	11578		34	2.16		HGNC	p.A840P		TBC1D1		SNV							ENST00000508802	protein_coding	getma.org/?cm=var&var=hg19,4,38091738,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF204		A/P		C	medium	2591/5700		getma.org/?cm=msa&ty=f&p=TBCD1_HUMAN&rb=746&re=802&var=A746P	deleterious(0)	H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN			YES	TBC1D1,missense_variant,p.Ala746Pro,ENST00000261439,NM_015173.3,NM_001253914.1,NM_001253915.1;TBC1D1,missense_variant,p.Ala840Pro,ENST00000508802,NM_001253912.1;TBC1D1,incomplete_terminal_codon_variant,p.=,ENST00000421339,;TBC1D1,downstream_gene_variant,,ENST00000446803,;TBC1D1,downstream_gene_variant,,ENST00000443855,;TBC1D1,splice_region_variant,,ENST00000510573,;							MODERATE	2236/3507	A746P	TBCD1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000261439		CCDS33972.1			1	
CDC123	0	LGGM	GRCh37	10	12272981	12272981	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	14	8	.	.	ENST00000281141.4:c.475T>G	p.Cys159Gly	p.C159G	ENST00000281141	NM_006023.2	159	Tgt/Ggt	0	1	1	UPI000006FE36	0	NA	ENST00000281141		ENSG00000151465	16827		22	0.255		HGNC	p.C159G		CDC123		SNV							ENST00000281141	protein_coding	getma.org/?cm=var&var=hg19,10,12272981,T,G&fts=all		Pfam_domain:PF07065,PIRSF_domain:PIRSF007807,hmmpanther:PTHR15323,hmmpanther:PTHR15323:SF6		C/G		G	neutral	755/1542		getma.org/?cm=msa&ty=f&p=CD123_HUMAN&rb=14&re=316&var=C159G	tolerated(0.47)				YES	CDC123,missense_variant,p.Cys159Gly,ENST00000281141,NM_006023.2;CDC123,missense_variant,p.Cys159Gly,ENST00000378900,;CDC123,missense_variant,p.Cys13Gly,ENST00000440613,;CDC123,missense_variant,p.Cys127Gly,ENST00000442050,;CDC123,downstream_gene_variant,,ENST00000429258,;CDC123,non_coding_transcript_exon_variant,,ENST00000455773,;CDC123,non_coding_transcript_exon_variant,,ENST00000498747,;							MODERATE	475/1011	C159G	CD123_HUMAN			Transcript		benign(0)	.	ENSP00000281141		CCDS7090.1			1	
NOVA2	0	LGGM	GRCh37	19	46443136	46443136	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	6	8	.	.	ENST00000263257.5:c.1464C>A	p.Pro488=	p.P488=	ENST00000263257	NM_002516.2	488	ccC/ccA	0	1	1	UPI000006EBE8	0		ENST00000263257		ENSG00000104967	7887		14			HGNC	p.P488P		NOVA2		SNV							ENST00000263257	protein_coding			hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF141		P		T		1659/7803				Q9HDB7_HUMAN,M0R1A0_HUMAN			YES	NOVA2,synonymous_variant,p.=,ENST00000263257,NM_002516.2;NOVA2,downstream_gene_variant,,ENST00000596784,;							LOW	1464/1479		NOVA2_HUMAN			Transcript			.	ENSP00000263257		CCDS12679.1			1	
PDP1	0	LGGM	GRCh37	8	94934711	94934711	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	78	9	.	.	ENST00000396200.3:c.499G>T	p.Val167Phe	p.V167F	ENST00000396200	NM_001161779.1	167	Gtt/Ttt	0	1		UPI000004224D	0	getma.org/pdb.php?prot=PDP1_HUMAN&from=1&to=190&var=V142F	ENST00000297598		ENSG00000164951	9279		87	2.96		HGNC	p.V142F		PDP1		SNV			1				ENST00000517764	protein_coding	getma.org/?cm=var&var=hg19,8,94934711,G,T&fts=all		hmmpanther:PTHR13832:SF213,hmmpanther:PTHR13832,PROSITE_patterns:PS01032,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606		V/F		T	medium	693/4272		getma.org/?cm=msa&ty=f&p=PDP1_HUMAN&rb=1&re=190&var=V142F	deleterious(0)	E5RIV4_HUMAN,E5RIE5_HUMAN,E5RI96_HUMAN,E5RHB9_HUMAN,E5RFL8_HUMAN,B3KPZ7_HUMAN				PDP1,missense_variant,p.Val167Phe,ENST00000396200,NM_001161779.1;PDP1,missense_variant,p.Val142Phe,ENST00000297598,NM_018444.3,NM_001161781.1;PDP1,missense_variant,p.Val142Phe,ENST00000520728,NM_001161780.1;PDP1,missense_variant,p.Val142Phe,ENST00000517764,;PDP1,missense_variant,p.Val142Phe,ENST00000518827,;PDP1,missense_variant,p.Val142Phe,ENST00000521144,;PDP1,downstream_gene_variant,,ENST00000518573,;PDP1,downstream_gene_variant,,ENST00000518107,;PDP1,downstream_gene_variant,,ENST00000520614,;PDP1,downstream_gene_variant,,ENST00000523021,;							MODERATE	424/1614	V142F	PDP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297598		CCDS6259.1			1	
ASPHD2	0	LGGM	GRCh37	22	26830031	26830031	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	15	9	.	.	ENST00000215906.5:c.450C>A	p.Arg150=	p.R150=	ENST00000215906	NM_020437.4	150	cgC/cgA	0	1	1	UPI000037659F	0		ENST00000215906		ENSG00000128203	30437		24			HGNC	p.R150R	rs781740754	ASPHD2		SNV							ENST00000215906	protein_coding			hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF18		R		A		888/3357	1.53E-05			B3KUG5_HUMAN			YES	ASPHD2,synonymous_variant,p.=,ENST00000215906,NM_020437.4;							LOW	450/1110		ASPH2_HUMAN			Transcript			.	ENSP00000215906	8.24E-06	CCDS13834.2			1	
HCN3	0	LGGM	GRCh37	1	155254342	155254342	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	21	9	.	.	ENST00000368358.3:c.883G>T	p.Gly295Cys	p.G295C	ENST00000368358	NM_020897.2	295	Ggc/Tgc	0	1	1	UPI00000559A6	0	NA	ENST00000368358		ENSG00000143630	19183		30	1.62		HGNC	p.G295C		HCN3		SNV							ENST00000368358	protein_coding	getma.org/?cm=var&var=hg19,1,155254342,G,T&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF374,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324		G/C		T	low	891/3718		getma.org/?cm=msa&ty=f&p=HCN3_HUMAN&rb=128&re=346&var=G295C	deleterious(0.03)				YES	HCN3,missense_variant,p.Gly295Cys,ENST00000368358,NM_020897.2;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;HCN3,non_coding_transcript_exon_variant,,ENST00000467204,;HCN3,upstream_gene_variant,,ENST00000492035,;							MODERATE	883/2325	G295C	HCN3_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000357342		CCDS1108.1			1	
DGKG	0	LGGM	GRCh37	3	186015996	186015996	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	18	9	.	.	ENST00000265022.3:c.167A>T	p.Lys56Met	p.K56M	ENST00000265022	NM_001080744.1	56	aAg/aTg	0	1	1	UPI000013D5AB	0	getma.org/pdb.php?prot=DGKG_HUMAN&from=1&to=200&var=K56M	ENST00000265022		ENSG00000058866	2853		27	2.165		HGNC	p.K56M	COSM582949	DGKG		SNV						1	ENST00000544847	protein_coding	getma.org/?cm=var&var=hg19,3,186015996,T,A&fts=all		hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,Gene3D:1tuzA00,Pfam_domain:PF14513,Superfamily_domains:SSF47473		K/M		A	medium	707/5805		getma.org/?cm=msa&ty=f&p=DGKG_HUMAN&rb=1&re=200&var=K56M	deleterious(0.01)				YES	DGKG,missense_variant,p.Lys56Met,ENST00000265022,NM_001080744.1,NM_001346.2,NM_001080745.1;DGKG,missense_variant,p.Lys56Met,ENST00000344484,;DGKG,missense_variant,p.Lys56Met,ENST00000544847,;DGKG,missense_variant,p.Lys56Met,ENST00000382164,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;					1		MODERATE	167/2376	K56M	DGKG_HUMAN			Transcript		possibly_damaging(0.62)	.	ENSP00000265022		CCDS3274.1			1	
CDKN1B	0	LGGM	GRCh37	12	12871757	12871757	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	45	10	.	.	ENST00000228872.4:c.476-2A>C		p.X159_splice	ENST00000228872	NM_004064.3			0	1	1	UPI0000035C92	0		ENST00000228872		ENSG00000111276	1785		55			HGNC	-	COSM1665892	CDKN1B		SNV			1			1	ENST00000228872	protein_coding							C		-/2657				Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN			YES	CDKN1B,splice_acceptor_variant,,ENST00000228872,NM_004064.3;CDKN1B,splice_acceptor_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000396340,;RP11-180M15.4,downstream_gene_variant,,ENST00000542291,;CDKN1B,splice_acceptor_variant,,ENST00000477087,;					1		HIGH	476/597		CDN1B_HUMAN			Transcript			.	ENSP00000228872		CCDS8653.1			1	
ADGB	0	LGGM	GRCh37	6	147047314	147047314	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	43	10	.	.	ENST00000397944.3:c.2333T>G	p.Val778Gly	p.V778G	ENST00000397944	NM_024694.3	778	gTa/gGa	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		53	2.005		HGNC	p.V778G		ADGB		SNV							ENST00000397944	protein_coding	getma.org/?cm=var&var=hg19,6,147047314,T,G&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		V/G		G	medium	2409/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=601&re=800&var=V778G	deleterious(0)				YES	ADGB,missense_variant,p.Val778Gly,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Val197Gly,ENST00000367493,;ADGB,missense_variant,p.Val198Gly,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,downstream_gene_variant,,ENST00000326929,;							MODERATE	2333/5004	V778G	ADGB_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000381036					1	
CDKN1B	0	LGGM	GRCh37	12	12871761	12871761	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	44	10	.	.	ENST00000228872.4:c.478T>G	p.Ser160Ala	p.S160A	ENST00000228872	NM_004064.3	160	Tct/Gct	0	1	1	UPI0000035C92	0	NA	ENST00000228872		ENSG00000111276	1785		54	1.795		HGNC	p.S66A		CDKN1B		SNV			1				ENST00000442489	protein_coding	getma.org/?cm=var&var=hg19,12,12871761,T,G&fts=all		hmmpanther:PTHR10265:SF9,hmmpanther:PTHR10265		S/A		G	low	1194/2657		getma.org/?cm=msa&ty=f&p=CDN1B_HUMAN&rb=81&re=198&var=S160A	tolerated(0.42)	Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN			YES	CDKN1B,missense_variant,p.Ser160Ala,ENST00000228872,NM_004064.3;CDKN1B,missense_variant,p.Ser66Ala,ENST00000442489,;CDKN1B,intron_variant,,ENST00000396340,;RP11-180M15.4,downstream_gene_variant,,ENST00000542291,;CDKN1B,splice_region_variant,,ENST00000477087,;							MODERATE	478/597	S160A	CDN1B_HUMAN			Transcript		benign(0.002)	.	ENSP00000228872		CCDS8653.1			1	
CCDC152	0	LGGM	GRCh37	5	42799783	42799783	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	7	10	.	.	ENST00000361970.5:c.665A>T	p.Glu222Val	p.E222V	ENST00000361970	NM_001134848.1	222	gAa/gTa	0	1	1	UPI0000160C50	0	NA	ENST00000361970		ENSG00000198865	34438		17	1.955		HGNC	p.E166V		CCDC152		SNV							ENST00000388827	protein_coding	getma.org/?cm=var&var=hg19,5,42799783,A,T&fts=all		Coiled-coils_(Ncoils):Coil		E/V		T	medium	752/3431		getma.org/?cm=msa&ty=f&p=CC152_HUMAN&rb=1&re=252&var=E222V	deleterious(0)				YES	CCDC152,missense_variant,p.Glu222Val,ENST00000361970,NM_001134848.1;CCDC152,missense_variant,p.Glu166Val,ENST00000388827,;SEPP1,downstream_gene_variant,,ENST00000514985,NM_005410.2;SEPP1,downstream_gene_variant,,ENST00000506577,;SEPP1,downstream_gene_variant,,ENST00000511224,NM_001085486.1;SEPP1,downstream_gene_variant,,ENST00000514218,;SEPP1,downstream_gene_variant,,ENST00000510965,;SEPP1,downstream_gene_variant,,ENST00000507920,;SEPP1,downstream_gene_variant,,ENST00000509276,;SEPP1,downstream_gene_variant,,ENST00000513303,;SEPP1,downstream_gene_variant,,ENST00000512980,;SEPP1,downstream_gene_variant,,ENST00000514403,;SEPP1,downstream_gene_variant,,ENST00000505309,;							MODERATE	665/765	E222V	CC152_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354888		CCDS47203.1			1	
STK24	0	LGGM	GRCh37	13	99127091	99127091	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	12	10	.	.	ENST00000376547.3:c.617C>T	p.Ser206Leu	p.S206L	ENST00000376547	NM_003576.3	206	tCg/tTg	0	1	1	UPI000013606E	0	getma.org/pdb.php?prot=STK24_HUMAN&from=36&to=286&var=S206L	ENST00000376547		ENSG00000102572	11403		22	0.27		HGNC	p.S175L		STK24		SNV							ENST00000539966	protein_coding	getma.org/?cm=var&var=hg19,13,99127091,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF208,SMART_domains:SM00220,Superfamily_domains:SSF56112		S/L		A	neutral	763/2492		getma.org/?cm=msa&ty=f&p=STK24_HUMAN&rb=36&re=286&var=S206L	deleterious(0.01)	Q5JV99_HUMAN			YES	STK24,missense_variant,p.Ser194Leu,ENST00000397517,NM_001032296.2;STK24,missense_variant,p.Ser206Leu,ENST00000376547,NM_003576.3;STK24,missense_variant,p.Ser112Leu,ENST00000444574,;STK24,missense_variant,p.Ser175Leu,ENST00000539966,NM_001286649.1;STK24,downstream_gene_variant,,ENST00000491878,;							MODERATE	617/1332	S206L	STK24_HUMAN			Transcript		possibly_damaging(0.807)	.	ENSP00000365730		CCDS9488.1			1	
TLK2	0	LGGM	GRCh37	17	60678145	60678145	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	30	10	.	.	ENST00000346027.5:c.1684A>G	p.Ile562Val	p.I562V	ENST00000346027	NM_006852.3	562	Ata/Gta	0	1		UPI00001B6B0E	0	getma.org/pdb.php?prot=TLK2_HUMAN&from=462&to=741&var=I584V	ENST00000326270		ENSG00000146872	11842		40	0.13		HGNC	p.I530V		TLK2		SNV							ENST00000542523	protein_coding	getma.org/?cm=var&var=hg19,17,60678145,A,G&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/V		G	neutral	2018/3512		getma.org/?cm=msa&ty=f&p=TLK2_HUMAN&rb=462&re=741&var=I584V	tolerated(0.16)	J3QS73_HUMAN,J3QQN4_HUMAN,J3KST4_HUMAN				TLK2,missense_variant,p.Ile413Val,ENST00000582809,;TLK2,missense_variant,p.Ile584Val,ENST00000326270,NM_001284333.1;TLK2,missense_variant,p.Ile562Val,ENST00000346027,NM_006852.3;TLK2,missense_variant,p.Ile530Val,ENST00000343388,NM_001112707.1,NM_001284363.1;TLK2,missense_variant,p.Ile530Val,ENST00000542523,;TLK2,missense_variant,p.Ile498Val,ENST00000581041,;TLK2,intron_variant,,ENST00000578931,;TLK2,downstream_gene_variant,,ENST00000582660,;							MODERATE	1750/2319	I584V	TLK2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000316512		CCDS62283.1			1	
ZNF729	0	LGGM	GRCh37	19	22498511	22498511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	44	11	.	.	ENST00000601693.1:c.2292G>T	p.Arg764Ser	p.R764S	ENST00000601693		764	agG/agT	0	1	1	UPI000042600C	0	getma.org/pdb.php?prot=ZN729_HUMAN&from=754&to=779&var=R764S	ENST00000601693		ENSG00000196350	32464		55	-0.105		HGNC	p.R764S		ZNF729		SNV							ENST00000357491	protein_coding	getma.org/?cm=var&var=hg19,19,22498511,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,Gene3D:3.30.160.60,Pfam_domain:PF13465		R/S		T	neutral	2410/3877		getma.org/?cm=msa&ty=f&p=ZN729_HUMAN&rb=734&re=799&var=R764S	deleterious(0.02)	M0QY45_HUMAN			YES	ZNF729,missense_variant,p.Arg764Ser,ENST00000601693,;ZNF729,missense_variant,p.Arg764Ser,ENST00000357491,NM_001242680.1;							MODERATE	2292/3759	R764S				Transcript		benign(0.09)	.	ENSP00000469582		CCDS59368.1			1	
ZNF74	0	LGGM	GRCh37	22	20760254	20760254	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	31	11	.	.	ENST00000400451.2:c.931A>T	p.Lys311Ter	p.K311*	ENST00000400451	NM_003426.3	311	Aag/Tag	0	1	1	UPI000020710C	0	NA	ENST00000400451		ENSG00000185252	13144		42	0		HGNC	p.K311X		ZNF74		SNV							ENST00000356671	protein_coding	getma.org/?cm=var&var=hg19,22,20760254,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF179,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/*		T	NA	1445/3159		NA					YES	ZNF74,stop_gained,p.Lys311Ter,ENST00000400451,NM_003426.3;ZNF74,stop_gained,p.Lys311Ter,ENST00000356671,NM_001256524.1;ZNF74,stop_gained,p.Lys279Ter,ENST00000405993,;ZNF74,3_prime_UTR_variant,,ENST00000403682,NM_001256523.1;ZNF74,3_prime_UTR_variant,,ENST00000357502,NM_001256525.1;ZNF74,downstream_gene_variant,,ENST00000420626,;ZNF74,3_prime_UTR_variant,,ENST00000437275,;ZNF74,non_coding_transcript_exon_variant,,ENST00000476678,;ZNF74,non_coding_transcript_exon_variant,,ENST00000493734,;							HIGH	931/1935	K311*	ZNF74_HUMAN			Transcript			.	ENSP00000383301		CCDS42982.1			1	
PABPC5	0	LGGM	GRCh37	X	90691289	90691289	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	7	11	.	.	ENST00000312600.3:c.713C>G	p.Ser238Cys	p.S238C	ENST00000312600	NM_080832.2	238	tCt/tGt	0	1	1	UPI0000087790	0	getma.org/pdb.php?prot=PABP5_HUMAN&from=201&to=270&var=S238C	ENST00000312600		ENSG00000174740	13629		18	2.61		HGNC	p.S238C		PABPC5		SNV							ENST00000312600	protein_coding	getma.org/?cm=var&var=hg19,X,90691289,C,G&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		S/C		G	medium	927/3221		getma.org/?cm=msa&ty=f&p=PABP5_HUMAN&rb=201&re=270&var=S238C	deleterious(0.01)	Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,missense_variant,p.Ser238Cys,ENST00000312600,NM_080832.2;PABPC5,missense_variant,p.Ser74Cys,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;							MODERATE	713/1149	S238C	PABP5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308012		CCDS14460.1			1	
FAT2	0	LGGM	GRCh37	5	150924307	150924307	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	52	11	.	.	ENST00000261800.5:c.6381C>A	p.Leu2127=	p.L2127=	ENST00000261800	NM_001447.2	2127	ctC/ctA	0	1	1	UPI0000055B22	0		ENST00000261800		ENSG00000086570	3596		63			HGNC	p.L2127L		FAT2		SNV							ENST00000261800	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		T		6394/14534							YES	FAT2,synonymous_variant,p.=,ENST00000261800,NM_001447.2;							LOW	6381/13050		FAT2_HUMAN			Transcript			.	ENSP00000261800		CCDS4317.1			1	
UTP20	0	LGGM	GRCh37	12	101693561	101693561	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	38	12	.	.	ENST00000261637.4:c.1532A>G	p.Asp511Gly	p.D511G	ENST00000261637	NM_014503.2	511	gAt/gGt	0	1	1	UPI00001FB38B	0	NA	ENST00000261637		ENSG00000120800	17897		50	0.895		HGNC	p.D511G		UTP20		SNV							ENST00000261637	protein_coding	getma.org/?cm=var&var=hg19,12,101693561,A,G&fts=all		hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371		D/G		G	low	1706/9025		getma.org/?cm=msa&ty=f&p=UTP20_HUMAN&rb=401&re=600&var=D511G	tolerated(0.24)				YES	UTP20,missense_variant,p.Asp511Gly,ENST00000261637,NM_014503.2;							MODERATE	1532/8358	D511G	UTP20_HUMAN			Transcript		benign(0.005)	.	ENSP00000261637		CCDS9081.1			1	
NCSTN	0	LGGM	GRCh37	1	160321162	160321162	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	12	.	.	ENST00000294785.5:c.733G>C	p.Glu245Gln	p.E245Q	ENST00000294785	NM_015331.2	245	Gaa/Caa	0	1	1	UPI0000042050	0	NA	ENST00000294785		ENSG00000162736	17091		37	2.08		HGNC	p.E245Q		NCSTN		SNV			1				ENST00000294785	protein_coding	getma.org/?cm=var&var=hg19,1,160321162,G,C&fts=all		hmmpanther:PTHR21092,hmmpanther:PTHR21092:SF0,Superfamily_domains:SSF53187		E/Q		C	medium	858/2936		getma.org/?cm=msa&ty=f&p=NICA_HUMAN&rb=201&re=273&var=E245Q	tolerated(0.15)	E7ENA9_HUMAN			YES	NCSTN,missense_variant,p.Glu225Gln,ENST00000368063,;NCSTN,missense_variant,p.Glu245Gln,ENST00000294785,NM_015331.2;NCSTN,missense_variant,p.Glu225Gln,ENST00000392212,;NCSTN,missense_variant,p.Glu81Gln,ENST00000424645,;NCSTN,missense_variant,p.Glu13Gln,ENST00000424754,;NCSTN,intron_variant,,ENST00000535857,;NCSTN,intron_variant,,ENST00000368065,;NCSTN,intron_variant,,ENST00000421914,;NCSTN,upstream_gene_variant,,ENST00000435149,;NCSTN,downstream_gene_variant,,ENST00000438008,;NCSTN,downstream_gene_variant,,ENST00000437169,;NCSTN,intron_variant,,ENST00000459963,;NCSTN,downstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000491390,;NCSTN,downstream_gene_variant,,ENST00000491332,;							MODERATE	733/2130	E245Q	NICA_HUMAN			Transcript		benign(0.108)	.	ENSP00000294785		CCDS1203.1			1	
ZNF782	0	LGGM	GRCh37	9	99581914	99581914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	37	12	.	.	ENST00000481138.1:c.391G>T	p.Ala131Ser	p.A131S	ENST00000481138	NM_001001662.1	131	Gca/Tca	0	1	1	UPI00001D76E3	0	NA	ENST00000481138		ENSG00000196597	33110		49	-0.245		HGNC	p.A131S		ZNF782		SNV							ENST00000481138	protein_coding	getma.org/?cm=var&var=hg19,9,99581914,C,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF111		A/S		A	neutral	1053/4213		getma.org/?cm=msa&ty=f&p=ZN782_HUMAN&rb=49&re=248&var=A131S	tolerated(1)	G3V1K9_HUMAN,C9J9Y8_HUMAN			YES	ZNF782,missense_variant,p.Ala131Ser,ENST00000481138,NM_001001662.1;ZNF782,missense_variant,p.Ala120Ser,ENST00000289032,;ZNF782,missense_variant,p.Ala131Ser,ENST00000478850,;ZNF782,5_prime_UTR_variant,,ENST00000535338,;ZNF782,non_coding_transcript_exon_variant,,ENST00000466833,;							MODERATE	391/2100	A131S	ZN782_HUMAN			Transcript		benign(0.007)	.	ENSP00000419397		CCDS35075.1			1	
CDC123	0	LGGM	GRCh37	10	12291703	12291703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	12	.	.	ENST00000281141.4:c.970G>A	p.Asp324Asn	p.D324N	ENST00000281141	NM_006023.2	324	Gac/Aac	0	1	1	UPI000006FE36	0	NA	ENST00000281141		ENSG00000151465	16827		37	1.825		HGNC	p.D324N		CDC123		SNV							ENST00000281141	protein_coding	getma.org/?cm=var&var=hg19,10,12291703,G,A&fts=all		PIRSF_domain:PIRSF007807,hmmpanther:PTHR15323,hmmpanther:PTHR15323:SF6		D/N		A	low	1250/1542		getma.org/?cm=msa&ty=f&p=CD123_HUMAN&rb=287&re=336&var=D324N	deleterious(0)				YES	CDC123,missense_variant,p.Asp324Asn,ENST00000281141,NM_006023.2;CDC123,missense_variant,p.Asp283Asn,ENST00000378900,;CDC123,intron_variant,,ENST00000440613,;RP11-186N15.3,upstream_gene_variant,,ENST00000421657,;RP11-186N15.3,upstream_gene_variant,,ENST00000598961,;CDC123,non_coding_transcript_exon_variant,,ENST00000455773,;CDC123,non_coding_transcript_exon_variant,,ENST00000498747,;CDC123,non_coding_transcript_exon_variant,,ENST00000497963,;							MODERATE	970/1011	D324N	CD123_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000281141		CCDS7090.1			1	
TAX1BP1	0	LGGM	GRCh37	7	27827075	27827075	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	38	12	.	.	ENST00000396319.2:c.891T>C	p.Leu297=	p.L297=	ENST00000396319	NM_006024.6	297	ctT/ctC	0	1	1	UPI00000723AD	0		ENST00000396319		ENSG00000106052	11575		50			HGNC	p.L297L		TAX1BP1		SNV							ENST00000396319	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07888,hmmpanther:PTHR31915,hmmpanther:PTHR31915:SF4		L		C		979/2890				C9JBZ7_HUMAN,C9J7J4_HUMAN,A4D196_HUMAN			YES	TAX1BP1,synonymous_variant,p.=,ENST00000396319,NM_006024.6;TAX1BP1,synonymous_variant,p.=,ENST00000543117,NM_001206901.1;TAX1BP1,synonymous_variant,p.=,ENST00000409980,;TAX1BP1,synonymous_variant,p.=,ENST00000265393,NM_001079864.2;TAX1BP1,synonymous_variant,p.=,ENST00000433216,NM_001206902.1;TAX1BP1,3_prime_UTR_variant,,ENST00000416801,;							LOW	891/2370		TAXB1_HUMAN			Transcript			.	ENSP00000379612		CCDS5415.1			1	
KIF5B	0	LGGM	GRCh37	10	32308815	32308815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	48	12	.	.	ENST00000302418.4:c.2277G>T	p.Gln759His	p.Q759H	ENST00000302418	NM_004521.2	759	caG/caT	0	1	1	UPI000012DE68	0	NA	ENST00000302418		ENSG00000170759	6324		60	0.405		HGNC	p.Q759H		KIF5B		SNV							ENST00000302418	protein_coding	getma.org/?cm=var&var=hg19,10,32308815,C,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF380		Q/H		A	neutral	2735/5877		getma.org/?cm=msa&ty=f&p=KINH_HUMAN&rb=700&re=960&var=Q759H	tolerated(0.41)	A8K048_HUMAN			YES	KIF5B,missense_variant,p.Gln759His,ENST00000302418,NM_004521.2;KIF5B,non_coding_transcript_exon_variant,,ENST00000493889,;							MODERATE	2277/2892	Q759H	KINH_HUMAN			Transcript		benign(0.259)	.	ENSP00000307078		CCDS7171.1			1	
MUC20	0	LGGM	GRCh37	3	195451862	195451862	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	54	12	.	.	ENST00000447234.2:c.388A>G	p.Ile130Val	p.I130V	ENST00000447234	NM_001282506.1	130	Atc/Gtc	0	1	1	UPI000198CC5A	0	NA	ENST00000447234		ENSG00000176945	23282		66	-1.1		HGNC	p.I130V		MUC20		SNV							ENST00000320736	protein_coding	getma.org/?cm=var&var=hg19,3,195451862,A,G&fts=all				I/V		G	neutral	514/2589		getma.org/?cm=msa&ty=f&p=MUC20_HUMAN&rb=1&re=707&var=I130V	tolerated(1)	I0EZ60_HUMAN,I0EZ59_HUMAN,I0CMK3_HUMAN,I0CMJ9_HUMAN			YES	MUC20,missense_variant,p.Ile130Val,ENST00000320736,NM_152673.2;MUC20,missense_variant,p.Ile95Val,ENST00000445522,;MUC20,missense_variant,p.Ile130Val,ENST00000447234,NM_001282506.1;MUC20,missense_variant,p.Ile130Val,ENST00000436408,;MUC20,upstream_gene_variant,,ENST00000423938,;LINC00969,non_coding_transcript_exon_variant,,ENST00000455807,;LINC00969,non_coding_transcript_exon_variant,,ENST00000600288,;LINC00969,non_coding_transcript_exon_variant,,ENST00000599566,;LINC00969,intron_variant,,ENST00000600197,;LINC00969,intron_variant,,ENST00000594446,;LINC00969,intron_variant,,ENST00000595086,;LINC00969,intron_variant,,ENST00000597662,;LINC00969,downstream_gene_variant,,ENST00000594976,;LINC00969,downstream_gene_variant,,ENST00000432194,;MUC20,non_coding_transcript_exon_variant,,ENST00000480350,;MUC20,downstream_gene_variant,,ENST00000485430,;MUC20,upstream_gene_variant,,ENST00000498018,;							MODERATE	388/2130	I130V	MUC20_HUMAN			Transcript		benign(0.025)	.	ENSP00000414350		CCDS63877.1			1	
RBM15	0	LGGM	GRCh37	1	110883258	110883258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	28	12	.	.	ENST00000369784.3:c.1231G>T	p.Gly411Cys	p.G411C	ENST00000369784	NM_022768.4	411	Ggc/Tgc	0	1	1	UPI000013E1C5	0	getma.org/pdb.php?prot=RBM15_HUMAN&from=376&to=445&var=G411C	ENST00000369784		ENSG00000162775	14959		40	3.49		HGNC	p.G411C		RBM15		SNV			1				ENST00000369784	protein_coding	getma.org/?cm=var&var=hg19,1,110883258,G,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF43,SMART_domains:SM00360,Superfamily_domains:SSF54928		G/C		T	medium	2131/4244		getma.org/?cm=msa&ty=f&p=RBM15_HUMAN&rb=376&re=445&var=G411C	deleterious(0)				YES	RBM15,missense_variant,p.Gly411Cys,ENST00000369784,NM_022768.4;RBM15,missense_variant,p.Gly411Cys,ENST00000602849,;RBM15,missense_variant,p.Gly411Cys,ENST00000487146,NM_001201545.1;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;							MODERATE	1231/2934	G411C	RBM15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358799		CCDS822.1			1	
PDZD2	0	LGGM	GRCh37	5	32010507	32010507	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	29	13	.	.	ENST00000438447.1:c.1326T>C	p.Asp442=	p.D442=	ENST00000438447		442	gaT/gaC	0	1	1	UPI000069648B	0		ENST00000438447		ENSG00000133401	18486		42			HGNC	p.D442D		PDZD2		SNV							ENST00000438447	protein_coding			hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		D		C		1714/11704				B4DGS3_HUMAN			YES	PDZD2,synonymous_variant,p.=,ENST00000438447,;PDZD2,synonymous_variant,p.=,ENST00000282493,NM_178140.2;PDZD2,non_coding_transcript_exon_variant,,ENST00000502489,;							LOW	1326/8520		PDZD2_HUMAN			Transcript			.	ENSP00000402033		CCDS34137.1			1	
RIF1	0	LGGM	GRCh37	2	152301934	152301934	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	26	13	.	.	ENST00000243326.5:c.2069T>A	p.Ile690Asn	p.I690N	ENST00000243326		690	aTt/aAt	0	1	1	UPI000023729F	0	NA	ENST00000243326		ENSG00000080345	23207		39	1.95		HGNC	p.I690N		RIF1		SNV							ENST00000453091	protein_coding	getma.org/?cm=var&var=hg19,2,152301934,T,A&fts=all		hmmpanther:PTHR22928		I/N		A	medium	2552/15003		getma.org/?cm=msa&ty=f&p=RIF1_HUMAN&rb=502&re=701&var=I690N	deleterious(0)	C9J1D6_HUMAN,B4DRJ4_HUMAN			YES	RIF1,missense_variant,p.Ile690Asn,ENST00000243326,;RIF1,missense_variant,p.Ile690Asn,ENST00000453091,NM_001177663.1;RIF1,missense_variant,p.Ile690Asn,ENST00000430328,NM_001177665.1;RIF1,missense_variant,p.Ile690Asn,ENST00000444746,NM_018151.4;RIF1,missense_variant,p.Ile690Asn,ENST00000428287,NM_001177664.1;RIF1,missense_variant,p.Ile682Asn,ENST00000414861,;RIF1,downstream_gene_variant,,ENST00000433166,;							MODERATE	2069/7419	I690N	RIF1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000243326		CCDS2194.1			1	
BOC	0	LGGM	GRCh37	3	112998201	112998201	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	25	13	.	.	ENST00000495514.1:c.1919G>A	p.Arg640His	p.R640H	ENST00000495514		640	cGt/cAt	0	1		UPI0000072E0E	0	getma.org/pdb.php?prot=BOC_HUMAN&from=607&to=693&var=R640H	ENST00000355385		ENSG00000144857	17173		38	1.475		HGNC	p.R640H	rs750791560	BOC		SNV							ENST00000355385	protein_coding	getma.org/?cm=var&var=hg19,3,112998201,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/H		A	low	2258/4278	3.00E-05	getma.org/?cm=msa&ty=f&p=BOC_HUMAN&rb=607&re=693&var=R640H	deleterious(0)	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,missense_variant,p.Arg640His,ENST00000495514,;BOC,missense_variant,p.Arg640His,ENST00000355385,NM_033254.2;BOC,missense_variant,p.Arg641His,ENST00000273395,;BOC,downstream_gene_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;BOC,upstream_gene_variant,,ENST00000463971,;	0.000116						MODERATE	1919/3345	R640H	BOC_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000347546	2.47E-05	CCDS2971.1			1	
SGOL1	0	LGGM	GRCh37	3	20225142	20225142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	45	14	.	.	ENST00000263753.4:c.297G>T	p.Leu99Phe	p.L99F	ENST00000263753	NM_001012410.3	99	ttG/ttT	0	1	1	UPI00004CE17A	0	NA	ENST00000263753		ENSG00000129810	25088		59	2.39		HGNC	p.L99F		SGOL1		SNV							ENST00000429446	protein_coding	getma.org/?cm=var&var=hg19,3,20225142,C,A&fts=all		hmmpanther:PTHR21577		L/F		A	medium	437/2338		getma.org/?cm=msa&ty=f&p=SGOL1_HUMAN&rb=68&re=179&var=L99F	deleterious(0)				YES	SGOL1,missense_variant,p.Leu99Phe,ENST00000412997,NM_001199251.1;SGOL1,missense_variant,p.Leu99Phe,ENST00000263753,NM_001012410.3,NM_001199252.1;SGOL1,missense_variant,p.Leu99Phe,ENST00000442720,NM_001012413.2,NM_001199255.1;SGOL1,missense_variant,p.Leu99Phe,ENST00000421451,;SGOL1,missense_variant,p.Leu99Phe,ENST00000412868,NM_001012409.2;SGOL1,missense_variant,p.Leu99Phe,ENST00000419233,NM_001199254.1,NM_001012412.3;SGOL1,missense_variant,p.Leu99Phe,ENST00000306698,NM_138484.3,NM_001199256.1;SGOL1,missense_variant,p.Leu99Phe,ENST00000383774,NM_001199257.1;SGOL1,missense_variant,p.Leu99Phe,ENST00000425061,;SGOL1,missense_variant,p.Leu99Phe,ENST00000437051,NM_001012411.2;SGOL1,missense_variant,p.Leu99Phe,ENST00000452020,;SGOL1,missense_variant,p.Leu99Phe,ENST00000429446,;SGOL1,missense_variant,p.Leu99Phe,ENST00000417364,NM_001199253.1;SGOL1,missense_variant,p.Leu99Phe,ENST00000443724,;SGOL1-AS1,intron_variant,,ENST00000448208,;SGOL1-AS1,intron_variant,,ENST00000441442,;SGOL1,intron_variant,,ENST00000456624,;							MODERATE	297/1686	L99F	SGOL1_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000263753		CCDS33716.1			1	
APOB	0	LGGM	GRCh37	2	21237997	21237997	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	36	15	.	.	ENST00000233242.1:c.3644G>C	p.Arg1215Thr	p.R1215T	ENST00000233242	NM_000384.2	1215	aGa/aCa	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		51	1.79		HGNC	p.R1215T		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21237997,C,G&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		R/T		G	low	3772/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=1073&re=1272&var=R1215T		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Arg1215Thr,ENST00000233242,NM_000384.2;							MODERATE	3644/13692	R1215T	APOB_HUMAN			Transcript		benign(0.018)	.	ENSP00000233242		CCDS1703.1			1	
LRRC39	0	LGGM	GRCh37	1	100626044	100626044	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	34	16	.	.	ENST00000370138.1:c.197A>G	p.Lys66Arg	p.K66R	ENST00000370138	NM_001256385.1	66	aAg/aGg	0	1		UPI0000070C71	0	NA	ENST00000342895		ENSG00000122477	28228		50	-0.345		HGNC	p.K66R		LRRC39		SNV							ENST00000370137	protein_coding	getma.org/?cm=var&var=hg19,1,100626044,T,C&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF422,Superfamily_domains:SSF52047		K/R		C	neutral	396/1396		getma.org/?cm=msa&ty=f&p=LRC39_HUMAN&rb=40&re=82&var=K66R	tolerated(0.88)					LRRC39,missense_variant,p.Lys66Arg,ENST00000370138,NM_001256385.1;LRRC39,missense_variant,p.Lys66Arg,ENST00000342895,NM_001256387.1;LRRC39,missense_variant,p.Lys66Arg,ENST00000370137,NM_001256386.1,NM_144620.3;							MODERATE	197/1008	K66R	LRC39_HUMAN			Transcript		benign(0.006)	.	ENSP00000344470		CCDS766.1			1	
TRIM37	0	LGGM	GRCh37	17	57093134	57093134	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	33	16	.	.	ENST00000262294.7:c.2413A>T	p.Ser805Cys	p.S805C	ENST00000262294	NM_015294.3	805	Agc/Tgc	0	1	1	UPI0000167B57	0	NA	ENST00000262294		ENSG00000108395	7523		49	0.975		HGNC	p.S771C		TRIM37		SNV			1				ENST00000393065	protein_coding	getma.org/?cm=var&var=hg19,17,57093134,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24103:SF229,hmmpanther:PTHR24103		S/C		A	low	2673/4330		getma.org/?cm=msa&ty=f&p=TRI37_HUMAN&rb=423&re=962&var=S805C	deleterious_low_confidence(0)	B3KMU3_HUMAN,A8K0V9_HUMAN			YES	TRIM37,missense_variant,p.Ser683Cys,ENST00000376149,;TRIM37,missense_variant,p.Ser805Cys,ENST00000262294,NM_015294.3;TRIM37,missense_variant,p.Ser805Cys,ENST00000393066,NM_001005207.2;TRIM37,missense_variant,p.Ser771Cys,ENST00000393065,;TRIM37,upstream_gene_variant,,ENST00000585287,;TRIM37,upstream_gene_variant,,ENST00000583945,;TRIM37,3_prime_UTR_variant,,ENST00000577554,;							MODERATE	2413/2895	S805C	TRI37_HUMAN			Transcript		possibly_damaging(0.56)	.	ENSP00000262294		CCDS32694.1			1	
ATN1	0	LGGM	GRCh37	12	7047831	7047831	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	45	18	.	.	ENST00000356654.4:c.2705A>G	p.His902Arg	p.H902R	ENST00000356654	NM_001007026.1	902	cAt/cGt	0	1	1	UPI000006F554	0	NA	ENST00000356654		ENSG00000111676	3033		63	1.385		HGNC	p.H902R		ATN1		SNV			1				ENST00000356654	protein_coding	getma.org/?cm=var&var=hg19,12,7047831,A,G&fts=all		Pfam_domain:PF03154,Prints_domain:PR01222,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9		H/R		G	low	2942/4351		getma.org/?cm=msa&ty=f&p=ATN1_HUMAN&rb=349&re=1190&var=H902R		Q86V38_HUMAN			YES	ATN1,missense_variant,p.His902Arg,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.His902Arg,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,;							MODERATE	2705/3573	H902R	ATN1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000349076		CCDS31734.1			1	
AMER1	0	LGGM	GRCh37	X	63412830	63412830	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	11	19	.	.	ENST00000330258.3:c.337G>A	p.Gly113Arg	p.G113R	ENST00000330258	NM_152424.3	113	Gga/Aga	0	1	1	UPI0000EDA0FC	0	NA	ENST00000330258		ENSG00000184675	26837	0.000107	30	0.665		HGNC	p.G113R	rs758505952	AMER1		SNV			1				ENST00000403336	protein_coding	getma.org/?cm=var&var=hg19,X,63412830,C,T&fts=all		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF0,Pfam_domain:PF09422		G/R		T	neutral	610/8443		getma.org/?cm=msa&ty=f&p=AMER1_HUMAN&rb=55&re=129&var=G113R	tolerated(0.07)				YES	AMER1,missense_variant,p.Gly113Arg,ENST00000330258,NM_152424.3;AMER1,missense_variant,p.Gly113Arg,ENST00000374869,;AMER1,missense_variant,p.Gly113Arg,ENST00000403336,;							MODERATE	337/3408	G113R	AMER1_HUMAN			Transcript		benign(0.038)	.	ENSP00000329117	8.24E-06	CCDS14377.2			1	
RYR3	0	LGGM	GRCh37	15	33842505	33842505	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	23	21	.	.	ENST00000389232.4:c.960C>A	p.Phe320Leu	p.F320L	ENST00000389232	NM_001036.3	320	ttC/ttA	0	1	1	UPI0000E5B01A	0	getma.org/pdb.php?prot=RYR3_HUMAN&from=216&to=398&var=F320L	ENST00000389232		ENSG00000198838	10485		44	1.07		HGNC	p.F320L		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33842505,C,A&fts=all		Superfamily_domains:SSF82109,SMART_domains:SM00472,Gene3D:2.80.10.50,Pfam_domain:PF02815,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50919		F/L		A	low	1030/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=216&re=398&var=F320L					YES	RYR3,missense_variant,p.Phe320Leu,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Phe320Leu,ENST00000415757,NM_001243996.1;							MODERATE	960/14613	F320L	RYR3_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000373884		CCDS45210.1			1	
BBX	0	LGGM	GRCh37	3	107492057	107492057	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	57	21	.	.	ENST00000325805.8:c.1489G>A	p.Asp497Asn	p.D497N	ENST00000325805		497	Gac/Aac	0	1	1	UPI000007315E	0	NA	ENST00000325805		ENSG00000114439	14422		78	0.975		HGNC	p.D497N		BBX		SNV							ENST00000402543	protein_coding	getma.org/?cm=var&var=hg19,3,107492057,G,A&fts=all		hmmpanther:PTHR13059		D/N		A	low	1776/3517		getma.org/?cm=msa&ty=f&p=BBX_HUMAN&rb=324&re=523&var=D497N	tolerated(0.06)	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			YES	BBX,missense_variant,p.Asp497Asn,ENST00000415149,NM_020235.6,NM_001142568.2;BBX,missense_variant,p.Asp497Asn,ENST00000402543,;BBX,missense_variant,p.Asp497Asn,ENST00000406780,;BBX,missense_variant,p.Asp497Asn,ENST00000325805,;BBX,intron_variant,,ENST00000416476,NM_001276286.1;BBX,downstream_gene_variant,,ENST00000402163,;BBX,upstream_gene_variant,,ENST00000473542,;BBX,downstream_gene_variant,,ENST00000485939,;BBX,downstream_gene_variant,,ENST00000472032,;							MODERATE	1489/2826	D497N	BBX_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000319974		CCDS46881.1			1	
CNTN1	0	LGGM	GRCh37	12	41410606	41410606	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	47	21	.	.	ENST00000551295.2:c.2307T>C	p.His769=	p.H769=	ENST00000551295	NM_001843.3	769	caT/caC	0	1		UPI0000127EBA	0		ENST00000347616		ENSG00000018236	2171		68			HGNC	p.H758H		CNTN1		SNV			1				ENST00000348761	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		H		C		2386/3393				F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN				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,;							LOW	2307/3057		CNTN1_HUMAN			Transcript			.	ENSP00000325660		CCDS8737.1			1	
TNFRSF13B	0	LGGM	GRCh37	17	16852095	16852095	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	22	21	.	.	ENST00000261652.2:c.402A>G	p.Gly134=	p.G134=	ENST00000261652	NM_012452.2	134	ggA/ggG	0	1	1	UPI00000347FC	0		ENST00000261652		ENSG00000240505	18153		43			HGNC	p.G134G		TNFRSF13B		SNV			1				ENST00000579315	protein_coding			hmmpanther:PTHR15511,hmmpanther:PTHR15511:SF2		G		C		415/1357				Q4ACX1_HUMAN			YES	TNFRSF13B,synonymous_variant,p.=,ENST00000437538,;TNFRSF13B,synonymous_variant,p.=,ENST00000261652,NM_012452.2;TNFRSF13B,synonymous_variant,p.=,ENST00000583789,;TNFRSF13B,synonymous_variant,p.=,ENST00000579315,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000581616,;TNFRSF13B,synonymous_variant,p.=,ENST00000584950,;TNFRSF13B,non_coding_transcript_exon_variant,,ENST00000582931,;							LOW	402/882		TR13B_HUMAN			Transcript			.	ENSP00000261652		CCDS11181.1			1	
ZNF292	0	LGGM	GRCh37	6	87943144	87943144	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	70	23	.	.	ENST00000369577.3:c.640C>T	p.Leu214=	p.L214=	ENST00000369577	NM_015021.1	214	Ctg/Ttg	0	1	1	UPI000020D2CC	0		ENST00000369577		ENSG00000188994	18410		93			HGNC	p.L214L		ZNF292		SNV							ENST00000369577	protein_coding			hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14		L		T		683/10610				Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN			YES	ZNF292,synonymous_variant,p.=,ENST00000369577,NM_015021.1;ZNF292,synonymous_variant,p.=,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,intron_variant,,ENST00000518845,;ZNF292,upstream_gene_variant,,ENST00000466062,;							LOW	640/8172		ZN292_HUMAN			Transcript			.	ENSP00000358590		CCDS47457.1			1	
TRAF3IP3	0	LGGM	GRCh37	1	209952736	209952736	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	38	23	.	.	ENST00000367024.1:c.1312+17C>G		*438*	ENST00000367024				0	1	1	UPI00005190E1	0		ENST00000367024		ENSG00000009790	30766		61			HGNC	p.Y179X		TRAF3IP3		SNV							ENST00000367023	protein_coding							G		-/2331				C9JXB3_HUMAN,C9J0C0_HUMAN			YES	TRAF3IP3,stop_gained,p.Tyr179Ter,ENST00000367023,NM_001287754.1;TRAF3IP3,intron_variant,,ENST00000367024,;TRAF3IP3,intron_variant,,ENST00000367025,NM_025228.2;TRAF3IP3,intron_variant,,ENST00000367026,;TRAF3IP3,intron_variant,,ENST00000400959,;TRAF3IP3,intron_variant,,ENST00000010338,;TRAF3IP3,intron_variant,,ENST00000477431,;C1orf74,downstream_gene_variant,,ENST00000294811,NM_152485.2;TRAF3IP3,downstream_gene_variant,,ENST00000487271,;TRAF3IP3,intron_variant,,ENST00000480569,;TRAF3IP3,upstream_gene_variant,,ENST00000467830,;TRAF3IP3,downstream_gene_variant,,ENST00000488702,;TRAF3IP3,3_prime_UTR_variant,,ENST00000478359,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000476050,;TRAF3IP3,non_coding_transcript_exon_variant,,ENST00000460314,;TRAF3IP3,intron_variant,,ENST00000471368,;TRAF3IP3,downstream_gene_variant,,ENST00000474496,;							MODIFIER	-/1656		T3JAM_HUMAN			Transcript			.	ENSP00000355991		CCDS1490.2			1	
ZNF292	0	LGGM	GRCh37	6	87943143	87943143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	72	23	.	.	ENST00000369577.3:c.639G>T	p.Lys213Asn	p.K213N	ENST00000369577	NM_015021.1	213	aaG/aaT	0	1	1	UPI000020D2CC	0	NA	ENST00000369577		ENSG00000188994	18410		95	2.28		HGNC	p.K213N		ZNF292		SNV							ENST00000369577	protein_coding	getma.org/?cm=var&var=hg19,6,87943143,G,T&fts=all		hmmpanther:PTHR15507,hmmpanther:PTHR15507:SF14		K/N		T	medium	682/10610		getma.org/?cm=msa&ty=f&p=ZN292_HUMAN&rb=1&re=499&var=K213N	deleterious(0.02)	Q6ZS01_HUMAN,Q6P495_HUMAN,Q3MN16_HUMAN			YES	ZNF292,missense_variant,p.Lys213Asn,ENST00000369577,NM_015021.1;ZNF292,missense_variant,p.Lys208Asn,ENST00000339907,;ZNF292,intron_variant,,ENST00000496806,;ZNF292,intron_variant,,ENST00000518845,;ZNF292,upstream_gene_variant,,ENST00000466062,;							MODERATE	639/8172	K213N	ZN292_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000358590		CCDS47457.1			1	
GRPEL1	0	LGGM	GRCh37	4	7062647	7062647	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092093	H092093N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	62	24	.	.	ENST00000264954.4:c.596A>G	p.Tyr199Cys	p.Y199C	ENST00000264954	NM_025196.2	199	tAc/tGc	0	1	1	UPI000012BA91	0	getma.org/pdb.php?prot=GRPE1_HUMAN&from=33&to=215&var=Y199C	ENST00000264954		ENSG00000109519	19696		86	4.165		HGNC	p.Y199C		GRPEL1		SNV							ENST00000264954	protein_coding	getma.org/?cm=var&var=hg19,4,7062647,T,C&fts=all		HAMAP:MF_01151,hmmpanther:PTHR21237,hmmpanther:PTHR21237:SF25,PROSITE_patterns:PS01071,Gene3D:1dkgA02,Pfam_domain:PF01025,Superfamily_domains:0036470,Prints_domain:PR00773		Y/C		C	high	761/2775		getma.org/?cm=msa&ty=f&p=GRPE1_HUMAN&rb=33&re=215&var=Y199C	deleterious(0)	B4DWV5_HUMAN			YES	GRPEL1,missense_variant,p.Tyr199Cys,ENST00000264954,NM_025196.2;TADA2B,downstream_gene_variant,,ENST00000310074,NM_152293.2;TADA2B,downstream_gene_variant,,ENST00000515646,;GRPEL1,downstream_gene_variant,,ENST00000514056,;GRPEL1,non_coding_transcript_exon_variant,,ENST00000504920,;GRPEL1,non_coding_transcript_exon_variant,,ENST00000509696,;							MODERATE	596/654	Y199C	GRPE1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264954		CCDS3396.1			1	
KIAA0556	0	LGGM	GRCh37	16	27781226	27781226	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	87	25	.	.	ENST00000261588.4:c.4020G>A	p.Pro1340=	p.P1340=	ENST00000261588	NM_015202.2	1340	ccG/ccA	0	1	1	UPI000045693C	0		ENST00000261588		ENSG00000047578	29068		112			HGNC	p.P1340P	rs372165349	KIAA0556	6.06E-05	SNV	A:0						ENST00000261588	protein_coding			Pfam_domain:PF14652,hmmpanther:PTHR21534,hmmpanther:PTHR21534:SF0		P	A:0.0001	A		4039/6616	1.50E-05			B4DHT8_HUMAN			YES	KIAA0556,synonymous_variant,p.=,ENST00000261588,NM_015202.2;	0.000116						LOW	4020/4857		K0556_HUMAN			Transcript			.	ENSP00000261588	2.47E-05	CCDS32415.1			1	
LAMA2	0	LGGM	GRCh37	6	129609161	129609161	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	67	25	.	.	ENST00000421865.2:c.2707G>A	p.Asp903Asn	p.D903N	ENST00000421865	NM_001079823.1	903	Gat/Aat	0	1	1	UPI00003673E0	0	getma.org/pdb.php?prot=LAMA2_HUMAN&from=865&to=915&var=D903N	ENST00000421865		ENSG00000196569	6482		92	1.805		HGNC	p.D903N	rs756711072	LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129609161,G,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_patterns:PS01248,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00180,SMART_domains:SM00181,Superfamily_domains:SSF57196		D/N		A	low	2756/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=865&re=915&var=D903N	deleterious(0.03)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Asp903Asn,ENST00000421865,NM_001079823.1,NM_000426.3;	0.000116						MODERATE	2707/9369	D903N	LAMA2_HUMAN			Transcript		possibly_damaging(0.744)	.	ENSP00000400365	8.24E-06	CCDS5138.1			1	
DNAH5	0	LGGM	GRCh37	5	13776649	13776649	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092093	H092093N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	26	26	.	.	ENST00000265104.4:c.9272T>C	p.Val3091Ala	p.V3091A	ENST00000265104	NM_001369.2	3091	gTg/gCg	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=2917&to=3189&var=V3091A	ENST00000265104		ENSG00000039139	2950		52	2.45		HGNC	p.V3091A		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13776649,A,G&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF12780,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		V/A		G	medium	9377/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=2917&re=3189&var=V3091A		O95496_HUMAN			YES	DNAH5,missense_variant,p.Val3091Ala,ENST00000265104,NM_001369.2;							MODERATE	9272/13875	V3091A	DYH5_HUMAN			Transcript		benign(0.418)	.	ENSP00000265104		CCDS3882.1			1	
RIMS4	0	LGGM	GRCh37	20	43385602	43385602	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092093	H092093N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	77	28	.	.	ENST00000541604.2:c.531G>A	p.Ser177=	p.S177=	ENST00000541604		177	tcG/tcA	0	1		UPI00001602B6	0		ENST00000372851		ENSG00000101098	16183	0.000173	105			HGNC	p.S176S	rs375368067,COSM1240069	RIMS4		SNV	T:0.0002			0.000192		0,1	ENST00000372851	protein_coding			PROSITE_profiles:PS50004,hmmpanther:PTHR12157,Gene3D:2.60.40.150,Pfam_domain:PF00168,SMART_domains:SM00239,Superfamily_domains:SSF49562		S	T:0	T		595/5203	0.000105			Q3MI43_HUMAN				RIMS4,synonymous_variant,p.=,ENST00000372851,NM_001205317.1,NM_182970.3;RIMS4,synonymous_variant,p.=,ENST00000541604,;					0,1		LOW	528/810		RIMS4_HUMAN	0.000151		Transcript			.	ENSP00000361942	9.88E-05	CCDS13338.1			1	
NOD2	0	LGGM	GRCh37	16	50756564	50756564	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092093	H092093N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092093N.bam, H092093T.bam	Illumina HiSeq	40	36	.	.	ENST00000300589.2:c.2746G>T	p.Ala916Ser	p.A916S	ENST00000300589	NM_022162.1	916	Gcc/Tcc	0	1	1	UPI000005027A	0	getma.org/pdb.php?prot=NOD2_HUMAN&from=898&to=921&var=A916S	ENST00000300589		ENSG00000167207	5331		76	2.79		HGNC	p.A916S		NOD2		SNV			1				ENST00000300589	protein_coding	getma.org/?cm=var&var=hg19,16,50756564,G,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF64,SMART_domains:SM00368,Superfamily_domains:SSF52047		A/S		T	medium	2851/4486		getma.org/?cm=msa&ty=f&p=NOD2_HUMAN&rb=878&re=941&var=A916S	deleterious(0)	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			YES	NOD2,missense_variant,p.Ala916Ser,ENST00000300589,NM_022162.1;NOD2,missense_variant,p.Ala128Ser,ENST00000534057,;NOD2,3_prime_UTR_variant,,ENST00000534067,;NOD2,3_prime_UTR_variant,,ENST00000529633,;NOD2,3_prime_UTR_variant,,ENST00000524712,;NOD2,3_prime_UTR_variant,,ENST00000527052,;							MODERATE	2746/3123	A916S	NOD2_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000300589		CCDS10746.1			1	
ELMO3	0	LGGM	GRCh37	16	67237621	67237621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	18	2	.	.	ENST00000393997.2:c.2163C>A	p.Ser721Arg	p.S721R	ENST00000393997	NM_024712.3	721	agC/agA	0	1	1	UPI00006976B6	0	NA	ENST00000393997		ENSG00000102890	17289		20	2.56		HGNC	p.S721R	rs756798007	ELMO3		SNV							ENST00000393997	protein_coding	getma.org/?cm=var&var=hg19,16,67237621,C,A&fts=all		hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF16		S/R		A	medium	2220/2531		getma.org/?cm=msa&ty=f&p=ELMO3_HUMAN&rb=470&re=669&var=S668R	deleterious(0)				YES	ELMO3,missense_variant,p.Ser721Arg,ENST00000393997,NM_024712.3;ELMO3,missense_variant,p.Ser704Arg,ENST00000360833,;ELMO3,missense_variant,p.Ser555Arg,ENST00000477898,;E2F4,downstream_gene_variant,,ENST00000379378,NM_001950.3;LRRC29,downstream_gene_variant,,ENST00000409037,;LRRC29,downstream_gene_variant,,ENST00000393992,NM_012163.2;LRRC29,downstream_gene_variant,,ENST00000409509,;LRRC29,downstream_gene_variant,,ENST00000341546,NM_001004055.1;LRRC29,downstream_gene_variant,,ENST00000447579,;LRRC29,downstream_gene_variant,,ENST00000433915,;LRRC29,downstream_gene_variant,,ENST00000424285,;MIR328,upstream_gene_variant,,ENST00000385213,;ELMO3,downstream_gene_variant,,ENST00000571638,;E2F4,downstream_gene_variant,,ENST00000567007,;ELMO3,downstream_gene_variant,,ENST00000571587,;							MODERATE	2163/2322	S668R	ELMO3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377566		CCDS10833.2			1	
KRTAP1-5	0	LGGM	GRCh37	17	39183083	39183083	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	22	2	.	.	ENST00000361883.5:c.325A>G	p.Ser109Gly	p.S109G	ENST00000361883	NM_031957.1	109	Agt/Ggt	0	1	1	UPI00000707CB	0	NA	ENST00000361883		ENSG00000221852	16777	0.000534	24	0.945		HGNC	p.S109G	rs747775550	KRTAP1-5		SNV				0.000854			ENST00000361883	protein_coding	getma.org/?cm=var&var=hg19,17,39183083,T,C&fts=all		Pfam_domain:PF01500,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF9,Low_complexity_(Seg):seg		S/G		C	low	372/1177	0.000122	getma.org/?cm=msa&ty=f&p=KRA15_HUMAN&rb=73&re=174&var=S109G	tolerated(0.24)				YES	KRTAP1-5,missense_variant,p.Ser109Gly,ENST00000361883,NM_031957.1;KRTAP1-4,downstream_gene_variant,,ENST00000377747,NM_001257305.1;	0.000118						MODERATE	325/525	S109G	KRA15_HUMAN	0.000154		Transcript		unknown(0)	common_variant	ENSP00000355302	0.00033	CCDS42321.1			1	
REPS1	0	LGGM	GRCh37	6	139308718	139308718	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	9	2	.	.	ENST00000258062.5:c.102G>T	p.Arg34=	p.R34=	ENST00000258062	NM_031922.3	34	cgG/cgT	0	1		UPI000020E300	0		ENST00000450536		ENSG00000135597	15578		11			HGNC	p.R20R		REPS1		SNV							ENST00000529597	protein_coding			Gene3D:1.10.238.10,PROSITE_profiles:PS50031,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF63,SMART_domains:SM00027,Superfamily_domains:SSF47473		R		A		677/4537								REPS1,synonymous_variant,p.=,ENST00000450536,NM_001286611.1;REPS1,synonymous_variant,p.=,ENST00000258062,NM_031922.3;REPS1,synonymous_variant,p.=,ENST00000367663,NM_001128617.1;REPS1,synonymous_variant,p.=,ENST00000409812,NM_001286612.1;REPS1,synonymous_variant,p.=,ENST00000529597,;REPS1,synonymous_variant,p.=,ENST00000415951,;REPS1,non_coding_transcript_exon_variant,,ENST00000531675,;REPS1,synonymous_variant,p.=,ENST00000483468,;REPS1,synonymous_variant,p.=,ENST00000445570,;							LOW	102/2391		REPS1_HUMAN			Transcript			.	ENSP00000392065		CCDS69213.1			1	
PLEKHG4B	0	LGGM	GRCh37	5	151681	151681	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	29	3	.	.	ENST00000283426.6:c.891T>A	p.Ser297=	p.S297=	ENST00000283426	NM_052909.3	297	tcT/tcA	0	1	1	UPI0000D615EE	0		ENST00000283426		ENSG00000153404	29399		32			HGNC	p.S297S		PLEKHG4B		SNV							ENST00000283426	protein_coding			hmmpanther:PTHR22826:SF119,hmmpanther:PTHR22826		S		A		941/11513							YES	PLEKHG4B,synonymous_variant,p.=,ENST00000283426,NM_052909.3;PLEKHG4B,synonymous_variant,p.=,ENST00000502646,;							LOW	891/3816		PKH4B_HUMAN			Transcript			.	ENSP00000283426		CCDS34124.1			1	
OR5H15	0	LGGM	GRCh37	3	97888180	97888180	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	34	3	.	.	ENST00000356526.2:c.637A>T	p.Thr213Ser	p.T213S	ENST00000356526	NM_001005515.1	213	Act/Tct	0	1	1	UPI00001606CE	0	NA	ENST00000356526		ENSG00000233412	31287		37	1.63		HGNC	p.T213S		OR5H15		SNV							ENST00000356526	protein_coding	getma.org/?cm=var&var=hg19,3,97888180,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/S		T	low	637/942		getma.org/?cm=msa&ty=f&p=O5H15_HUMAN&rb=139&re=283&var=T213S	tolerated(0.24)				YES	OR5H15,missense_variant,p.Thr213Ser,ENST00000356526,NM_001005515.1;							MODERATE	637/942	T213S	O5H15_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000373195		CCDS33799.1			1	
RABL2A	0	LGGM	GRCh37	2	114399673	114399673	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	31	3	.	.	ENST00000393167.3:c.654C>T	p.Thr218=	p.T218=	ENST00000393167	NM_013412.2	218	acC/acT	0	1		UPI00001331E4	0		ENST00000393166		ENSG00000144134	9799		34			HGNC	p.T155T		RABL2A		SNV							ENST00000409842	protein_coding			PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF263		T		T		801/1052				C9JFZ0_HUMAN,B7ZBD4_HUMAN				RABL2A,synonymous_variant,p.=,ENST00000409875,;RABL2A,synonymous_variant,p.=,ENST00000393167,NM_013412.2;RABL2A,synonymous_variant,p.=,ENST00000409842,;RABL2A,synonymous_variant,p.=,ENST00000393165,NM_007082.3;RABL2A,synonymous_variant,p.=,ENST00000393166,;RABL2A,synonymous_variant,p.=,ENST00000376439,;RABL2A,downstream_gene_variant,,ENST00000413545,;RABL2A,non_coding_transcript_exon_variant,,ENST00000478880,;RABL2A,downstream_gene_variant,,ENST00000465711,;RABL2A,downstream_gene_variant,,ENST00000477218,;RABL2A,3_prime_UTR_variant,,ENST00000450954,;RABL2A,3_prime_UTR_variant,,ENST00000452831,;RABL2A,non_coding_transcript_exon_variant,,ENST00000494909,;RABL2A,non_coding_transcript_exon_variant,,ENST00000486403,;RABL2A,non_coding_transcript_exon_variant,,ENST00000409121,;							LOW	654/687		RBL2A_HUMAN			Transcript			.	ENSP00000376871		CCDS2118.1			1	
FAM193A	0	LGGM	GRCh37	4	2701807	2701807	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	43	3	.	.	ENST00000324666.5:c.3035G>A	p.Arg1012Lys	p.R1012K	ENST00000324666	NM_001256666.1	1012	aGa/aAa	0	1	1	UPI0000551BCA	0	NA	ENST00000324666		ENSG00000125386	16822		46	1.935		HGNC	p.R866K		FAM193A		SNV							ENST00000513350	protein_coding	getma.org/?cm=var&var=hg19,4,2701807,G,A&fts=all		hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109		R/K		A	medium	3386/4846		getma.org/?cm=msa&ty=f&p=F193A_HUMAN&rb=938&re=1164&var=R1012K	tolerated_low_confidence(0.06)	E7EUR8_HUMAN,D6R990_HUMAN			YES	FAM193A,missense_variant,p.Arg1012Lys,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.Arg1012Lys,ENST00000382839,NM_003704.3,NM_001256667.1,NM_001256668.1;FAM193A,missense_variant,p.Arg1012Lys,ENST00000505311,;FAM193A,missense_variant,p.Arg1034Lys,ENST00000502458,;FAM193A,missense_variant,p.Arg1012Lys,ENST00000545951,;FAM193A,missense_variant,p.Arg866Lys,ENST00000513350,;FAM193A,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,downstream_gene_variant,,ENST00000506120,;							MODERATE	3035/3798	R1012K	F193A_HUMAN			Transcript		benign(0.033)	.	ENSP00000324587		CCDS58875.1			1	
KLK7	0	LGGM	GRCh37	19	51483696	51483696	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	34	3	.	.	ENST00000391807.1:c.269C>G	p.Ala90Gly	p.A90G	ENST00000391807	NM_139277.2	90	gCt/gGt	0	1	1	UPI0000001BC4	0	getma.org/pdb.php?prot=KLK7_HUMAN&from=30&to=245&var=A90G	ENST00000391807		ENSG00000169035	6368		37	-0.52		HGNC	p.A18G		KLK7		SNV							ENST00000593904	protein_coding	getma.org/?cm=var&var=hg19,19,51483696,G,C&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF41,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		A/G		C	neutral	371/1927		getma.org/?cm=msa&ty=f&p=KLK7_HUMAN&rb=30&re=245&var=A90G	tolerated(0.21)	M0QYU8_HUMAN,B4DHX9_HUMAN			YES	KLK7,missense_variant,p.Ala90Gly,ENST00000391807,NM_139277.2;KLK7,missense_variant,p.Ala90Gly,ENST00000595820,NM_005046.3;KLK7,missense_variant,p.Ala18Gly,ENST00000597707,NM_001207053.1;KLK7,missense_variant,p.Ala18Gly,ENST00000593904,;KLK7,5_prime_UTR_variant,,ENST00000336317,NM_001243126.1;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,downstream_gene_variant,,ENST00000595638,;KLK7,missense_variant,p.Leu41Val,ENST00000304045,;							MODERATE	269/762	A90G	KLK7_HUMAN			Transcript		benign(0.013)	.	ENSP00000375683		CCDS12812.1			1	
OSBPL6	0	LGGM	GRCh37	2	179247175	179247175	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	41	3	.	.	ENST00000392505.2:c.1637A>C	p.Asp546Ala	p.D546A	ENST00000392505	NM_001201480.1	546	gAt/gCt	0	1		UPI0000130E97	0	NA	ENST00000190611		ENSG00000079156	16388		44	1.735		HGNC	p.D485A		OSBPL6		SNV							ENST00000409631	protein_coding	getma.org/?cm=var&var=hg19,2,179247175,A,C&fts=all		hmmpanther:PTHR10972:SF76,hmmpanther:PTHR10972		D/A		C	low	1938/7055		getma.org/?cm=msa&ty=f&p=OSBL6_HUMAN&rb=521&re=569&var=D521A	deleterious(0)					OSBPL6,missense_variant,p.Asp521Ala,ENST00000190611,NM_032523.3;OSBPL6,missense_variant,p.Asp546Ala,ENST00000392505,NM_001201480.1;OSBPL6,missense_variant,p.Asp485Ala,ENST00000359685,NM_001201482.1;OSBPL6,missense_variant,p.Asp490Ala,ENST00000409045,NM_001201481.1;OSBPL6,missense_variant,p.Asp485Ala,ENST00000409631,;OSBPL6,missense_variant,p.Asp525Ala,ENST00000315022,NM_145739.2;OSBPL6,missense_variant,p.Asp454Ala,ENST00000357080,;							MODERATE	1562/2805	D521A	OSBL6_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000190611		CCDS2277.1			1	
EVC2	0	LGGM	GRCh37	4	5624657	5624657	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	30	3	.	.	ENST00000344408.5:c.2108C>T	p.Ala703Val	p.A703V	ENST00000344408	NM_147127.4	703	gCc/gTc	0	1	1	UPI00001910B5	0	NA	ENST00000344408		ENSG00000173040	19747	8.65E-05	33	0.585		HGNC	p.A703V	rs754954578	EVC2	6.06E-05	SNV			1				ENST00000344938	protein_coding	getma.org/?cm=var&var=hg19,4,5624657,G,A&fts=all		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		A/V		A	neutral	2162/4390		getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=662&re=861&var=A703V	tolerated(1)	Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,missense_variant,p.Ala623Val,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Ala703Val,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Ala703Val,ENST00000344938,;EVC2,missense_variant,p.Ala623Val,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;							MODERATE	2108/3927	A703V	LBN_HUMAN			Transcript		benign(0.015)	.	ENSP00000342144	1.65E-05	CCDS3382.2			1	
TLK2	0	LGGM	GRCh37	17	60679470	60679470	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	27	4	.	.	ENST00000346027.5:c.1788G>A	p.Lys596=	p.K596=	ENST00000346027	NM_006852.3	596	aaG/aaA	0	1		UPI00001B6B0E	0		ENST00000326270		ENSG00000146872	11842		31			HGNC	p.K532K		TLK2		SNV							ENST00000581041	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20,SMART_domains:SM00220,Superfamily_domains:SSF56112		K		A		2122/3512				J3QS73_HUMAN,J3QQN4_HUMAN,J3KST4_HUMAN				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,;							LOW	1854/2319		TLK2_HUMAN			Transcript			.	ENSP00000316512		CCDS62283.1			1	
MEI1	0	LGGM	GRCh37	22	42174706	42174706	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	62	5	.	.	ENST00000401548.3:c.2711-6T>C		p.X904_splice	ENST00000401548	NM_152513.3			0	1	1	UPI00006E232C	0		ENST00000401548		ENSG00000167077	28613		67			HGNC	p.L226L		MEI1		SNV							ENST00000540880	protein_coding							C		-/4020							YES	MEI1,splice_region_variant,,ENST00000401548,NM_152513.3;MEI1,splice_region_variant,,ENST00000300398,;MEI1,synonymous_variant,p.=,ENST00000540880,;MEI1,intron_variant,,ENST00000400107,;MEI1,upstream_gene_variant,,ENST00000403492,;MEI1,splice_region_variant,,ENST00000462246,;MEI1,splice_region_variant,,ENST00000498456,;MEI1,upstream_gene_variant,,ENST00000476893,;MEI1,upstream_gene_variant,,ENST00000487535,;MEI1,upstream_gene_variant,,ENST00000484966,;MEI1,splice_region_variant,,ENST00000462450,;MEI1,splice_region_variant,,ENST00000473736,;							LOW	-/3825		MEI1_HUMAN			Transcript			.	ENSP00000384115		CCDS46718.1			1	
DUSP15	0	LGGM	GRCh37	20	30452801	30452801	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	39	5	.	.	ENST00000339738.5:c.143T>A	p.Ile48Asn	p.I48N	ENST00000339738	NM_080611.3	48	aTc/aAc	0	1		UPI000006CCB6	0	getma.org/pdb.php?prot=DUS15_HUMAN&from=9&to=137&var=I45N	ENST00000278979		ENSG00000149599	16236		44	2.56		HGNC	p.I45N		DUSP15		SNV							ENST00000278979	protein_coding	getma.org/?cm=var&var=hg19,20,30452801,A,T&fts=all		PROSITE_profiles:PS50054,hmmpanther:PTHR10159:SF30,hmmpanther:PTHR10159,Pfam_domain:PF00782,Gene3D:3.90.190.10,SMART_domains:SM00195,Superfamily_domains:SSF52799		I/N		T	medium	211/1732		getma.org/?cm=msa&ty=f&p=DUS15_HUMAN&rb=9&re=137&var=I45N	deleterious(0.01)					DUSP15,missense_variant,p.Ile45Asn,ENST00000278979,;DUSP15,missense_variant,p.Ile48Asn,ENST00000339738,NM_080611.3;DUSP15,missense_variant,p.Ile45Asn,ENST00000375966,;DUSP15,missense_variant,p.Ser37Thr,ENST00000428829,;DUSP15,5_prime_UTR_variant,,ENST00000486996,;DUSP15,5_prime_UTR_variant,,ENST00000398084,NM_177991.1;DUSP15,5_prime_UTR_variant,,ENST00000398083,NM_001012644.1;DUSP15,non_coding_transcript_exon_variant,,ENST00000493115,;DUSP15,non_coding_transcript_exon_variant,,ENST00000459848,;							MODERATE	134/888	I45N	DUS15_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000278979					1	
ACCSL	0	LGGM	GRCh37	11	44079986	44079986	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	75	5	.	.	ENST00000378832.1:c.1447T>A	p.Tyr483Asn	p.Y483N	ENST00000378832	NM_001031854.2	483	Tat/Aat	0	1	1	UPI000023785D	0	getma.org/pdb.php?prot=1A1L2_HUMAN&from=169&to=545&var=Y483N	ENST00000378832		ENSG00000205126	34391		80	2.645		HGNC	p.Y483N		ACCSL		SNV							ENST00000378832	protein_coding	getma.org/?cm=var&var=hg19,11,44079986,T,A&fts=all		hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		Y/N		A	medium	1503/1820		getma.org/?cm=msa&ty=f&p=1A1L2_HUMAN&rb=169&re=545&var=Y483N	deleterious(0)				YES	ACCSL,missense_variant,p.Tyr483Asn,ENST00000378832,NM_001031854.2;ACCSL,3_prime_UTR_variant,,ENST00000527145,;							MODERATE	1447/1707	Y483N	1A1L2_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000368109		CCDS41636.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110396310	110396310	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	99	5	.	.	ENST00000378402.5:c.429T>G	p.Phe143Leu	p.F143L	ENST00000378402	NM_177531.4	143	ttT/ttG	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313	0.000174	104	1.87		HGNC	p.F143L	rs779060929	PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110396310,T,G&fts=all		Gene3D:2.60.40.10,Superfamily_domains:SSF81296		F/L		G	low	533/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=108&re=175&var=F143L	tolerated(0.32)				YES	PKHD1L1,missense_variant,p.Phe143Leu,ENST00000378402,NM_177531.4;							MODERATE	429/12732	F143L	PKHL1_HUMAN			Transcript		benign(0.297)	.	ENSP00000367655	1.66E-05	CCDS47911.1			1	
STON1	0	LGGM	GRCh37	2	48809280	48809280	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	70	5	.	.	ENST00000309835.3:c.1508A>T	p.Lys503Met	p.K503M	ENST00000309835		503	aAg/aTg	0	1		UPI000006E627	0	getma.org/pdb.php?prot=STON1_HUMAN&from=401&to=715&var=K503M	ENST00000404752		ENSG00000243244	17003		75	2.33		HGNC	p.K503M		STON1		SNV							ENST00000309827	protein_coding	getma.org/?cm=var&var=hg19,2,48809280,A,T&fts=all		Superfamily_domains:0038852,PIRSF_domain:PIRSF037099,Pfam_domain:PF00928,Gene3D:2.60.40.1170,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,PROSITE_profiles:PS51072		K/M		T	medium	1601/5511		getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=401&re=715&var=K503M	deleterious(0.02)					STON1,missense_variant,p.Lys503Met,ENST00000309835,;STON1,missense_variant,p.Lys503Met,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Lys503Met,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Lys503Met,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Lys503Met,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Lys503Met,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Lys503Met,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Lys503Met,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;							MODERATE	1508/2208	K503M	STON1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000385273		CCDS1841.1			1	
C1QTNF6	0	LGGM	GRCh37	22	37578566	37578566	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	36	5	.	.	ENST00000337843.2:c.499A>G	p.Arg167Gly	p.R167G	ENST00000337843	NM_031910.3	167	Agg/Ggg	0	1	1	UPI0000035BB4	0	getma.org/pdb.php?prot=C1QT6_HUMAN&from=126&to=254&var=R148G	ENST00000337843		ENSG00000133466	14343		41	1.625		HGNC	p.R167G		C1QTNF6		SNV							ENST00000397110	protein_coding	getma.org/?cm=var&var=hg19,22,37578566,T,C&fts=all		PROSITE_profiles:PS50871,hmmpanther:PTHR24022:SF72,hmmpanther:PTHR24022,Gene3D:2.60.120.40,Pfam_domain:PF00386,SMART_domains:SM00110,Superfamily_domains:SSF49842,Prints_domain:PR00007		R/G		C	low	575/2934		getma.org/?cm=msa&ty=f&p=C1QT6_HUMAN&rb=126&re=254&var=R148G	deleterious(0.01)				YES	C1QTNF6,missense_variant,p.Arg167Gly,ENST00000337843,NM_031910.3;C1QTNF6,missense_variant,p.Arg167Gly,ENST00000397110,NM_182486.1;C1QTNF6,missense_variant,p.Arg43Gly,ENST00000255836,;RP1-151B14.6,non_coding_transcript_exon_variant,,ENST00000419128,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000470655,;C1QTNF6,3_prime_UTR_variant,,ENST00000434784,;C1QTNF6,non_coding_transcript_exon_variant,,ENST00000493023,;							MODERATE	499/837	R148G	C1QT6_HUMAN			Transcript		benign(0.158)	.	ENSP00000338812		CCDS13943.1			1	
MUC19	0	LGGM	GRCh37	12	40821240	40821240	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	89	6	.	.	ENST00000454784.4:c.462T>C	p.Cys154=	p.C154=	ENST00000454784		154	tgT/tgC	0	1	1	UPI0003B927DE	0		ENST00000454784		ENSG00000205592	14362		95			HGNC	p.C383C		MUC19		SNV							ENST00000425730	protein_coding			Superfamily_domains:SSF57567,Pfam_domain:PF01826,Gene3D:2.10.25.10,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF266		C		C		1195/19628				C9JCE7_HUMAN			YES	MUC19,synonymous_variant,p.=,ENST00000454784,;MUC19,3_prime_UTR_variant,,ENST00000425730,;RP11-115F18.1,intron_variant,,ENST00000552757,;MUC19,downstream_gene_variant,,ENST00000471230,;MUC19,non_coding_transcript_exon_variant,,ENST00000543564,;							LOW	462/10893					Transcript			.	ENSP00000476404					1	
DCAF4L1	0	LGGM	GRCh37	4	41984685	41984685	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	66	7	.	.	ENST00000333141.5:c.876A>C	p.Gly292=	p.G292=	ENST00000333141	NM_001029955.3	292	ggA/ggC	0	1	1	UPI0000160C25	0		ENST00000333141		ENSG00000182308	27723		73			HGNC	p.G292G		DCAF4L1		SNV							ENST00000333141	protein_coding			Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR22847:SF327,hmmpanther:PTHR22847,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082		G		C		973/4764							YES	DCAF4L1,synonymous_variant,p.=,ENST00000333141,NM_001029955.3;							LOW	876/1191		DC4L1_HUMAN			Transcript			.	ENSP00000327796		CCDS33978.1			1	
OR8H3	0	LGGM	GRCh37	11	55890238	55890238	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	137	7	.	.	ENST00000313472.3:c.390A>G	p.Leu130=	p.L130=	ENST00000313472	NM_001005201.1	130	ctA/ctG	0	1	1	UPI0000041D25	0		ENST00000313472		ENSG00000181761	15309		144			HGNC	p.L130L	rs775429892	OR8H3	6.06E-05	SNV				9.61E-05			ENST00000313472	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF280,Superfamily_domains:SSF81321		L		G		390/939							YES	OR8H3,synonymous_variant,p.=,ENST00000313472,NM_001005201.1;							LOW	390/939		OR8H3_HUMAN			Transcript			.	ENSP00000323928	1.65E-05	CCDS31519.1			1	
ROR1	0	LGGM	GRCh37	1	64643386	64643386	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	178	7	.	.	ENST00000371079.1:c.1662T>C	p.Tyr554=	p.Y554=	ENST00000371079	NM_005012.3	554	taT/taC	0	1	1	UPI00001AF82C	0		ENST00000371079		ENSG00000185483	10256		185			HGNC	p.Y5Y		ROR1		SNV							ENST00000545203	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000624,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,Superfamily_domains:SSF56112		Y		C		2037/5832							YES	ROR1,synonymous_variant,p.=,ENST00000371079,NM_005012.3;ROR1,synonymous_variant,p.=,ENST00000545203,;							LOW	1662/2814		ROR1_HUMAN			Transcript			.	ENSP00000360120		CCDS626.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43822058	43822058	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	88	8	.	.	ENST00000389420.3:c.3931G>T	p.Gly1311Ter	p.G1311*	ENST00000389420	NM_025003.3	1311	Gga/Tga	0	1	1	UPI00004565F4	0	NA	ENST00000389420		ENSG00000173157	17178		96	0		HGNC	p.G441X		ADAMTS20		SNV							ENST00000549670	protein_coding	getma.org/?cm=var&var=hg19,12,43822058,C,A&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		G/*		A	NA	3931/6076		NA					YES	ADAMTS20,stop_gained,p.Gly1311Ter,ENST00000389420,NM_025003.3;ADAMTS20,stop_gained,p.Gly1311Ter,ENST00000553158,;ADAMTS20,stop_gained,p.Gly429Ter,ENST00000395541,;ADAMTS20,stop_gained,p.Gly441Ter,ENST00000549670,;							HIGH	3931/5733	G1311*	ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
H1FOO	0	LGGM	GRCh37	3	129270013	129270013	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	26	8	.	.	ENST00000324382.2:c.871G>C	p.Ala291Pro	p.A291P	ENST00000324382	NM_153833.1	291	Gct/Cct	0	1	1	UPI000007414E	0	NA	ENST00000324382		ENSG00000178804	18463		34	1.355		HGNC	p.A291P		H1FOO		SNV							ENST00000324382	protein_coding	getma.org/?cm=var&var=hg19,3,129270013,G,C&fts=all		hmmpanther:PTHR11467,hmmpanther:PTHR11467:SF22,Low_complexity_(Seg):seg		A/P		C	low	876/1067		getma.org/?cm=msa&ty=f&p=H1FOO_HUMAN&rb=134&re=344&var=A291P	deleterious(0.01)				YES	H1FOO,missense_variant,p.Ala291Pro,ENST00000324382,NM_153833.1;H1FOO,missense_variant,p.Ala152Pro,ENST00000503977,;PLXND1,downstream_gene_variant,,ENST00000393239,;PLXND1,downstream_gene_variant,,ENST00000324093,NM_015103.2;PLXND1,downstream_gene_variant,,ENST00000504689,;PLXND1,downstream_gene_variant,,ENST00000512744,;PLXND1,downstream_gene_variant,,ENST00000504524,;PLXND1,downstream_gene_variant,,ENST00000501038,;							MODERATE	871/1041	A291P	H1FOO_HUMAN			Transcript		benign(0.046)	.	ENSP00000319799		CCDS3064.1			1	
SNX30	0	LGGM	GRCh37	9	115580025	115580025	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	31	8	.	.	ENST00000374232.3:c.389G>A	p.Arg130His	p.R130H	ENST00000374232	NM_001012994.1	130	cGt/cAt	0	1	1	UPI0000457796	0	getma.org/pdb.php?prot=SNX30_HUMAN&from=90&to=206&var=R130H	ENST00000374232		ENSG00000148158	23685		39	1.955		HGNC	p.R130H		SNX30		SNV							ENST00000374232	protein_coding	getma.org/?cm=var&var=hg19,9,115580025,G,A&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF123,SMART_domains:SM00312,Superfamily_domains:SSF64268		R/H		A	medium	553/7622		getma.org/?cm=msa&ty=f&p=SNX30_HUMAN&rb=90&re=206&var=R130H	tolerated(0.05)				YES	SNX30,missense_variant,p.Arg130His,ENST00000374232,NM_001012994.1;							MODERATE	389/1314	R130H	SNX30_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363349		CCDS43865.1			1	
CASP5	0	LGGM	GRCh37	11	104893855	104893855	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	38	9	.	.	ENST00000393141.2:c.7+2T>G		p.X3_splice	ENST00000393141	NM_004347.3			0	1		UPI0001824643	0		ENST00000260315		ENSG00000137757	1506		47			HGNC	-	rs749856077	CASP5		SNV				0.0164			ENST00000418434	protein_coding							C		-/1414	0.00702			C9JF14_HUMAN				CASP5,splice_donor_variant,,ENST00000393141,NM_004347.3,NM_001136112.1;CASP5,splice_donor_variant,,ENST00000260315,;CASP5,splice_donor_variant,,ENST00000393139,;CASP5,splice_donor_variant,,ENST00000526056,;CASP5,splice_donor_variant,,ENST00000444749,NM_001136109.1;CASP5,splice_donor_variant,,ENST00000418434,NM_001136110.1;CASP5,splice_donor_variant,,ENST00000531367,;CASP5,splice_donor_variant,,ENST00000456094,;CASP1,downstream_gene_variant,,ENST00000533400,NM_001257118.1;CASP1,downstream_gene_variant,,ENST00000527979,;CASP1,downstream_gene_variant,,ENST00000436863,NM_033292.3;CASP1,downstream_gene_variant,,ENST00000528974,;CASP1,downstream_gene_variant,,ENST00000598974,;CASP1,downstream_gene_variant,,ENST00000593315,;CASP1,downstream_gene_variant,,ENST00000393136,NM_001223.4;CASP1,downstream_gene_variant,,ENST00000525825,NM_001257119.1;CASP1,downstream_gene_variant,,ENST00000526568,NM_033293.3;CASP1,downstream_gene_variant,,ENST00000446369,NM_033294.3;CASP1,downstream_gene_variant,,ENST00000594519,;CASP1,downstream_gene_variant,,ENST00000534497,;CASP1,downstream_gene_variant,,ENST00000532439,;CASP1,downstream_gene_variant,,ENST00000353247,NM_033295.3;CASP1,downstream_gene_variant,,ENST00000415981,;CASP1,downstream_gene_variant,,ENST00000531166,;CASP5,splice_donor_variant,,ENST00000456200,;CASP1,downstream_gene_variant,,ENST00000529871,;CASP1,downstream_gene_variant,,ENST00000527625,;							HIGH	7/1305		CASP5_HUMAN	0.0014		Transcript			common_variant	ENSP00000260315	0.00258	CCDS8328.2			1	
CLASP1	0	LGGM	GRCh37	2	122227537	122227537	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	33	10	.	.	ENST00000263710.4:c.713-1G>T		p.X238_splice	ENST00000263710	NM_015282.2			0	1	1	UPI00001A8BFF	0		ENST00000263710		ENSG00000074054	17088		43			HGNC	p.D7Y		CLASP1		SNV							ENST00000541859	protein_coding							A		-/8090				C9JP76_HUMAN,C9J151_HUMAN			YES	CLASP1,splice_acceptor_variant,,ENST00000263710,NM_015282.2;CLASP1,splice_acceptor_variant,,ENST00000409078,;CLASP1,splice_acceptor_variant,,ENST00000455322,;CLASP1,splice_acceptor_variant,,ENST00000397587,NM_001142274.1,NM_001142273.1;CLASP1,splice_acceptor_variant,,ENST00000541377,NM_001207051.1;CLASP1,splice_acceptor_variant,,ENST00000545861,;CLASP1,splice_acceptor_variant,,ENST00000418989,;CLASP1,splice_acceptor_variant,,ENST00000449975,;CLASP1,missense_variant,p.Asp7Tyr,ENST00000541859,;CLASP1,splice_acceptor_variant,,ENST00000430234,;CLASP1,splice_acceptor_variant,,ENST00000480007,;CLASP1,splice_acceptor_variant,,ENST00000452274,;CLASP1,splice_acceptor_variant,,ENST00000474065,;							HIGH	713/4617		CLAP1_HUMAN			Transcript			.	ENSP00000263710					1	
FAM212A	0	LGGM	GRCh37	3	49842171	49842171	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	24	10	.	.	ENST00000333323.4:c.615G>C	p.Glu205Asp	p.E205D	ENST00000333323	NM_203370.1	205	gaG/gaC	0	1	1	UPI00001D7F30	0	NA	ENST00000333323		ENSG00000185614	32480		34	1.39		HGNC	p.E205D		FAM212A		SNV							ENST00000333323	protein_coding	getma.org/?cm=var&var=hg19,3,49842171,G,C&fts=all		Pfam_domain:PF15342		E/D		C	low	748/1040		getma.org/?cm=msa&ty=f&p=F212A_HUMAN&rb=201&re=285&var=E203D	tolerated(0.09)				YES	FAM212A,missense_variant,p.Glu205Asp,ENST00000333323,NM_203370.1;UBA7,downstream_gene_variant,,ENST00000333486,NM_003335.2;CDHR4,upstream_gene_variant,,ENST00000412678,NM_001007540.2;CDHR4,upstream_gene_variant,,ENST00000343366,;CDHR4,upstream_gene_variant,,ENST00000487256,;MIR5193,downstream_gene_variant,,ENST00000584510,;UBA7,downstream_gene_variant,,ENST00000483751,;UBA7,downstream_gene_variant,,ENST00000488536,;UBA7,downstream_gene_variant,,ENST00000478875,;UBA7,downstream_gene_variant,,ENST00000497908,;UBA7,downstream_gene_variant,,ENST00000473992,;							MODERATE	615/864	E203D	F212A_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000329735		CCDS2804.1			1	
KMT2D	0	LGGM	GRCh37	12	49420132	49420132	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092293	H092293N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	71	11	.	.	ENST00000301067.7:c.15617A>G	p.Tyr5206Cys	p.Y5206C	ENST00000301067	NM_003482.3	5206	tAt/tGt	0	1	1	UPI0000EE84D6	0	getma.org/pdb.php?prot=MLL2_HUMAN&from=5180&to=5234&var=Y5206C	ENST00000301067		ENSG00000167548	7133		82	2.355		HGNC	p.Y5206C		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49420132,T,C&fts=all		Pfam_domain:PF05964,PROSITE_profiles:PS51542,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324,SMART_domains:SM00541		Y/C		C	medium	15617/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=5180&re=5234&var=Y5206C		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Tyr5206Cys,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000526209,;KMT2D,downstream_gene_variant,,ENST00000552391,;							MODERATE	15617/16614	Y5206C	KMT2D_HUMAN			Transcript		unknown(0)	.	ENSP00000301067		CCDS44873.1			1	
SLC10A1	0	LGGM	GRCh37	14	70245100	70245100	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	108	11	.	.	ENST00000216540.4:c.893T>G	p.Leu298Arg	p.L298R	ENST00000216540	NM_003049.3	298	cTt/cGt	0	1	1	UPI0000130576	0	NA	ENST00000216540		ENSG00000100652	10905		119	2.215		HGNC	p.L298R		SLC10A1		SNV							ENST00000216540	protein_coding	getma.org/?cm=var&var=hg19,14,70245100,A,C&fts=all		Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR00841,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF18		L/R		C	medium	1027/2049		getma.org/?cm=msa&ty=f&p=NTCP_HUMAN&rb=281&re=322&var=L298R	deleterious(0)	Q9UK36_HUMAN			YES	SLC10A1,missense_variant,p.Leu298Arg,ENST00000216540,NM_003049.3;							MODERATE	893/1050	L298R	NTCP_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000216540		CCDS9797.1			1	
SUMF1	0	LGGM	GRCh37	3	4110341	4110341	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	95	12	.	.	ENST00000448413.1:c.1103C>G	p.Ser368Cys	p.S368C	ENST00000448413		368	tCt/tGt	0	1	1	UPI0000D61AB6	0		ENST00000534863		ENSG00000144455	20376		107			HGNC	p.S368C		SUMF1		SNV			1				ENST00000448413	protein_coding					S/C		C		1103/1281				F5GXA0_HUMAN				SUMF1,missense_variant,p.Ser368Cys,ENST00000534863,;SUMF1,missense_variant,p.Ser368Cys,ENST00000448413,;							MODERATE	1103/1281					Transcript		unknown(0)	.	ENSP00000440421					1	
AMOTL1	0	LGGM	GRCh37	11	94564626	94564626	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	108	17	.	.	ENST00000433060.2:c.1567G>T	p.Glu523Ter	p.E523*	ENST00000433060	NM_130847.2	523	Gag/Tag	0	1	1	UPI00000742C2	0	NA	ENST00000433060		ENSG00000166025	17811		125	0		HGNC	p.E473X		AMOTL1		SNV							ENST00000317829	protein_coding	getma.org/?cm=var&var=hg19,11,94564626,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Prints_domain:PR01807,hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12		E/*		T	NA	1708/8970		NA					YES	AMOTL1,stop_gained,p.Glu523Ter,ENST00000433060,NM_130847.2;AMOTL1,stop_gained,p.Glu473Ter,ENST00000317829,;AMOTL1,intron_variant,,ENST00000317837,;AMOTL1,downstream_gene_variant,,ENST00000539727,;							HIGH	1567/2871	E523*	AMOL1_HUMAN			Transcript			.	ENSP00000387739		CCDS44712.1			1	
SIDT1	0	LGGM	GRCh37	3	113342539	113342539	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	60	17	.	.	ENST00000264852.4:c.2266G>A	p.Ala756Thr	p.A756T	ENST00000264852	NM_017699.2	756	Gcc/Acc	0	1	1	UPI000013D581	0	NA	ENST00000264852		ENSG00000072858	25967		77	1.21		HGNC	p.A756T	rs757469391	SIDT1		SNV							ENST00000264852	protein_coding	getma.org/?cm=var&var=hg19,3,113342539,G,A&fts=all		Pfam_domain:PF13965,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15,Transmembrane_helices:TMhelix		A/T		A	low	2992/5080	1.51E-05	getma.org/?cm=msa&ty=f&p=SIDT1_HUMAN&rb=184&re=827&var=A756T	tolerated(0.19)	B4E0H9_HUMAN			YES	SIDT1,missense_variant,p.Ala756Thr,ENST00000264852,NM_017699.2;SIDT1,missense_variant,p.Ala761Thr,ENST00000393830,;SIDT1,non_coding_transcript_exon_variant,,ENST00000463226,;SIDT1,upstream_gene_variant,,ENST00000498152,;SIDT1,downstream_gene_variant,,ENST00000481891,;							MODERATE	2266/2484	A756T	SIDT1_HUMAN			Transcript		benign(0.042)	.	ENSP00000264852	8.24E-06	CCDS2974.1			1	
LPHN2	0	LGGM	GRCh37	1	82435028	82435028	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	76	17	.	.	ENST00000319517.6:c.2639C>T	p.Ala880Val	p.A880V	ENST00000319517	NM_012302.2	880	gCt/gTt	0	1		UPI0000458983	0	NA	ENST00000370717		ENSG00000117114	18582		93	2.665		HGNC	p.A893V		LPHN2		SNV							ENST00000370730	protein_coding	getma.org/?cm=var&var=hg19,1,82435028,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321		A/V		T	medium	2894/5918		getma.org/?cm=msa&ty=f&p=LPHN2_HUMAN&rb=844&re=1080&var=A893V	deleterious(0)	Q9UJ49_HUMAN				LPHN2,missense_variant,p.Ala893Val,ENST00000370728,;LPHN2,missense_variant,p.Ala893Val,ENST00000370730,;LPHN2,missense_variant,p.Ala893Val,ENST00000370717,;LPHN2,missense_variant,p.Ala880Val,ENST00000394879,;LPHN2,missense_variant,p.Ala893Val,ENST00000271029,;LPHN2,missense_variant,p.Ala893Val,ENST00000335786,;LPHN2,missense_variant,p.Ala880Val,ENST00000370715,;LPHN2,missense_variant,p.Ala880Val,ENST00000319517,NM_012302.2;LPHN2,missense_variant,p.Ala880Val,ENST00000370713,;LPHN2,missense_variant,p.Ala893Val,ENST00000370725,;LPHN2,missense_variant,p.Ala880Val,ENST00000370723,;LPHN2,missense_variant,p.Ala893Val,ENST00000370727,;LPHN2,missense_variant,p.Ala818Val,ENST00000370721,;LPHN2,missense_variant,p.Ala880Val,ENST00000359929,;LPHN2,missense_variant,p.Ala761Val,ENST00000449420,;LPHN2,intron_variant,,ENST00000469377,;LPHN2,downstream_gene_variant,,ENST00000468283,;							MODERATE	2678/4425	A893V	LPHN2_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000359752					1	
SYT5	0	LGGM	GRCh37	19	55687430	55687430	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092293	H092293N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	102	17	.	.	ENST00000354308.3:c.315C>A	p.Asp105Glu	p.D105E	ENST00000354308	NM_003180.2	105	gaC/gaA	0	1	1	UPI000013C56F	0	NA	ENST00000354308		ENSG00000129990	11513		119	-0.305		HGNC	p.D105E		SYT5		SNV							ENST00000589172	protein_coding	getma.org/?cm=var&var=hg19,19,55687430,G,T&fts=all		Gene3D:2.60.40.150,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF37,Superfamily_domains:SSF49562		D/E		T	neutral	685/3792		getma.org/?cm=msa&ty=f&p=SYT5_HUMAN&rb=1&re=124&var=D105E	tolerated(1)	Q4FD32_HUMAN,Q05BS5_HUMAN,K7EQ59_HUMAN,K7EJS7_HUMAN,K7EJC4_HUMAN			YES	SYT5,missense_variant,p.Asp105Glu,ENST00000354308,NM_003180.2;SYT5,missense_variant,p.Asp102Glu,ENST00000590851,;SYT5,missense_variant,p.Asp105Glu,ENST00000537500,;SYT5,missense_variant,p.Asp105Glu,ENST00000592470,;SYT5,missense_variant,p.Asp105Glu,ENST00000589172,;SYT5,upstream_gene_variant,,ENST00000590859,;SYT5,upstream_gene_variant,,ENST00000587067,;CTD-2587H24.5,intron_variant,,ENST00000591665,;SYT5,upstream_gene_variant,,ENST00000592935,;SYT5,missense_variant,p.Gln48Lys,ENST00000585461,;SYT5,non_coding_transcript_exon_variant,,ENST00000588305,;SYT5,upstream_gene_variant,,ENST00000592956,;							MODERATE	315/1161	D105E	SYT5_HUMAN			Transcript		benign(0.001)	.	ENSP00000346265		CCDS12919.1			1	
CECR2	0	LGGM	GRCh37	22	18016885	18016885	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092293	H092293N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	105	20	.	.	ENST00000262608.8:c.1139A>G	p.Asn380Ser	p.N380S	ENST00000262608	NM_031413.3	380	aAt/aGt	0	1		UPI0001AE62C7	0	NA	ENST00000342247		ENSG00000099954	1840		125	0		HGNC	p.N238S	rs754672917	CECR2	6.06E-05	SNV				0.000102			ENST00000400585	protein_coding	getma.org/?cm=var&var=hg19,22,18016885,A,G&fts=all		hmmpanther:PTHR22880:SF123,hmmpanther:PTHR22880,Superfamily_domains:SSF47370		N/S		G	neutral	1129/1448	3.00E-05	getma.org/?cm=msa&ty=f&p=CECR2_HUMAN&rb=384&re=472&var=N421S	tolerated(1)	H7BXW8_HUMAN				CECR2,missense_variant,p.Asn379Ser,ENST00000400573,;CECR2,missense_variant,p.Asn380Ser,ENST00000262608,NM_031413.3;CECR2,missense_variant,p.Asn238Ser,ENST00000400585,;CECR2,missense_variant,p.Asn351Ser,ENST00000342247,;							MODERATE	1052/1371	N421S				Transcript		benign(0.001)	.	ENSP00000341219	3.31E-05				1	
PCDHB3	0	LGGM	GRCh37	5	140481493	140481493	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092293	H092293N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	92	20	.	.	ENST00000231130.2:c.1260C>T	p.Thr420=	p.T420=	ENST00000231130	NM_018937.2	420	acC/acT	0	1	1	UPI00001273DD	0		ENST00000231130		ENSG00000113205	8688		112			HGNC	p.T420T		PCDHB3		SNV							ENST00000231130	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF19,SMART_domains:SM00112,Superfamily_domains:SSF49313		T		T		1260/3173							YES	PCDHB3,synonymous_variant,p.=,ENST00000231130,NM_018937.2;PCDHB2,downstream_gene_variant,,ENST00000194155,NM_018936.2;AC005754.7,intron_variant,,ENST00000607216,;							LOW	1260/2391		PCDB3_HUMAN			Transcript			.	ENSP00000231130		CCDS4245.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H092293	H092293N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092293N.bam, H092293T.bam	Illumina HiSeq	130	67	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			197		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
MAGED2	0	LGGM	GRCh37	X	54836153	54836153	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	8	2	.	.	ENST00000375068.1:c.46-2A>T		p.X16_splice	ENST00000375068				0	1		UPI000000123B	0		ENST00000218439		ENSG00000102316	16353		10			HGNC	-		MAGED2		SNV							ENST00000375068	protein_coding							T		-/1932								MAGED2,splice_acceptor_variant,,ENST00000375068,;MAGED2,splice_acceptor_variant,,ENST00000347546,NM_177433.1;MAGED2,splice_acceptor_variant,,ENST00000375058,NM_014599.4;MAGED2,splice_acceptor_variant,,ENST00000396224,NM_201222.1;MAGED2,splice_acceptor_variant,,ENST00000218439,;MAGED2,splice_acceptor_variant,,ENST00000375053,;MAGED2,splice_acceptor_variant,,ENST00000375060,;MAGED2,splice_acceptor_variant,,ENST00000375062,;SNORA11,upstream_gene_variant,,ENST00000408789,NR_002953.1;MAGED2,splice_acceptor_variant,,ENST00000497484,;MAGED2,splice_acceptor_variant,,ENST00000485483,;MAGED2,intron_variant,,ENST00000463787,;MAGED2,upstream_gene_variant,,ENST00000487463,;MAGED2,upstream_gene_variant,,ENST00000487482,;							HIGH	46/1821		MAGD2_HUMAN			Transcript			.	ENSP00000218439		CCDS14362.1			1	
AMER2	0	LGGM	GRCh37	13	25744348	25744348	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	11	2	.	.	ENST00000515384.1:c.1410C>T	p.Pro470=	p.P470=	ENST00000515384		470	ccC/ccT	0	1	1	UPI0000231C76	0		ENST00000515384		ENSG00000165566	26360		13			HGNC	p.P470P	rs751920528	AMER2	6.33E-05	SNV							ENST00000515384	protein_coding			Pfam_domain:PF09422,hmmpanther:PTHR22237:SF1,hmmpanther:PTHR22237		P		A		2078/3197				Q8N785_HUMAN			YES	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,;							LOW	1410/2016		AMER2_HUMAN			Transcript			.	ENSP00000426528	8.24E-06	CCDS53859.1			1	
DGCR14	0	LGGM	GRCh37	22	19132086	19132086	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	4	2	.	.	ENST00000252137.6:c.68G>T	p.Arg23Leu	p.R23L	ENST00000252137	NM_022719.2	23	cGc/cTc	0	1	1	UPI0000129227	0	NA	ENST00000252137		ENSG00000100056	16817		6	0		HGNC	p.R23L		DGCR14		SNV							ENST00000434568	protein_coding	getma.org/?cm=var&var=hg19,22,19132086,C,A&fts=all		hmmpanther:PTHR12940		R/L		A	neutral	112/5392		getma.org/?cm=msa&ty=f&p=DGC14_HUMAN&rb=1&re=32&var=R23L	deleterious_low_confidence(0.04)				YES	DGCR14,missense_variant,p.Arg23Leu,ENST00000252137,NM_022719.2;GSC2,downstream_gene_variant,,ENST00000086933,NM_005315.1;DGCR14,missense_variant,p.Arg23Leu,ENST00000434568,;DGCR14,non_coding_transcript_exon_variant,,ENST00000472073,;DGCR14,non_coding_transcript_exon_variant,,ENST00000469466,;							MODERATE	68/1431	R23L	DGC14_HUMAN			Transcript		benign(0.088)	.	ENSP00000252137		CCDS13756.1			1	
CEP164	0	LGGM	GRCh37	11	117261853	117261853	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	17	2	.	.	ENST00000278935.3:c.2205C>A	p.Ser735Arg	p.S735R	ENST00000278935	NM_014956.4	735	agC/agA	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		19	-0.83		HGNC	p.S709R	rs494553	CEP164		SNV	T:0.0104		1				ENST00000529538	protein_coding	getma.org/?cm=var&var=hg19,11,117261853,C,A&fts=all	T:0.0015	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		S/R	T:0.059	A	neutral	2352/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=610&re=770&var=S735R	tolerated(1)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN	T:0.0216	T:0	YES	CEP164,missense_variant,p.Ser735Arg,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,downstream_gene_variant,,ENST00000529153,;		T:0.0158					MODERATE	2205/4383	S735R	CE164_HUMAN		T:0.0537	Transcript		benign(0.007)	.	ENSP00000278935		CCDS31683.1		T:0.0082	1	
TGM6	0	LGGM	GRCh37	20	2397988	2397988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	8	2	.	.	ENST00000202625.2:c.1447C>A	p.Arg483Ser	p.R483S	ENST00000202625	NM_198994.2	483	Cgt/Agt	0	1	1	UPI0000367011	0	NA	ENST00000202625		ENSG00000166948	16255		10	0.695		HGNC	p.R483S		TGM6		SNV			1				ENST00000202625	protein_coding	getma.org/?cm=var&var=hg19,20,2397988,C,A&fts=all		hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,PIRSF_domain:PIRSF000459		R/S		A	neutral	1508/2292		getma.org/?cm=msa&ty=f&p=TGM3L_HUMAN&rb=358&re=494&var=R483S	tolerated(0.23)				YES	TGM6,missense_variant,p.Arg483Ser,ENST00000202625,NM_198994.2;TGM6,missense_variant,p.Arg483Ser,ENST00000381423,NM_001254734.1;							MODERATE	1447/2121	R483S	TGM3L_HUMAN			Transcript		benign(0.008)	.	ENSP00000202625		CCDS13025.1			1	
RGS3	0	LGGM	GRCh37	9	116259614	116259614	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	7	3	.	.	ENST00000374140.2:c.771C>A	p.Tyr257Ter	p.Y257*	ENST00000374140	NM_144488.5	257	taC/taA	0	1		UPI00001C0F58	0	NA	ENST00000350696		ENSG00000138835	9999		10	0		HGNC	p.Y257X		RGS3		SNV							ENST00000350696	protein_coding	getma.org/?cm=var&var=hg19,9,116259614,C,A&fts=all		Gene3D:2.60.40.150,Superfamily_domains:SSF49562		Y/*		A	NA	788/4398		NA		H7BXY1_HUMAN,C9J6G2_HUMAN				RGS3,stop_gained,p.Tyr257Ter,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,stop_gained,p.Tyr257Ter,ENST00000350696,;RGS3,stop_gained,p.Tyr145Ter,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,;							HIGH	771/3597	Y257*	RGS3_HUMAN			Transcript			.	ENSP00000259406		CCDS43869.1			1	
SRCIN1	0	LGGM	GRCh37	17	36734843	36734843	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	7	3	.	.	ENST00000264659.7:c.224A>T	p.Asp75Val	p.D75V	ENST00000264659	NM_025248.2	75	gAc/gTc	0	1	1	UPI0000E27F82	0		ENST00000264659		ENSG00000017373	29506		10			HGNC	p.D75V		SRCIN1		SNV							ENST00000578925	protein_coding			hmmpanther:PTHR22741:SF5,hmmpanther:PTHR22741		D/V		A		449/7058			deleterious(0)				YES	SRCIN1,missense_variant,p.Asp75Val,ENST00000264659,NM_025248.2;SRCIN1,missense_variant,p.Asp75Val,ENST00000578925,;SRCIN1,missense_variant,p.Asp109Val,ENST00000584266,;							MODERATE	224/3552		SRCN1_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000264659		CCDS45660.1			1	
PIEZO2	0	LGGM	GRCh37	18	10773492	10773492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	45	3	.	.	ENST00000503781.3:c.2628G>T	p.Lys876Asn	p.K876N	ENST00000503781	NM_022068.2	876	aaG/aaT	0	1	1	UPI0001B3CB29	0	NA	ENST00000503781		ENSG00000154864	26270		48	0.345		HGNC	p.K890N		PIEZO2		SNV			1				ENST00000582913	protein_coding	getma.org/?cm=var&var=hg19,18,10773492,C,A&fts=all		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24		K/N		A	neutral	2628/8259		getma.org/?cm=msa&ty=f&p=PIEZ2_HUMAN&rb=587&re=1972&var=K876N	tolerated(0.25)	J3KSM7_HUMAN			YES	PIEZO2,missense_variant,p.Lys876Asn,ENST00000302079,;PIEZO2,missense_variant,p.Lys901Asn,ENST00000580640,;PIEZO2,missense_variant,p.Lys876Asn,ENST00000503781,NM_022068.2;PIEZO2,missense_variant,p.Lys164Asn,ENST00000383408,;PIEZO2,downstream_gene_variant,,ENST00000583325,;PIEZO2,missense_variant,p.Lys890Asn,ENST00000582913,;PIEZO2,non_coding_transcript_exon_variant,,ENST00000578145,;							MODERATE	2628/8259	K876N	PIEZ2_HUMAN			Transcript		benign(0.051)	.	ENSP00000421377					1	
TBC1D8	0	LGGM	GRCh37	2	101706795	101706795	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	20	3	.	.	ENST00000376840.4:c.159G>T	p.Leu53Phe	p.L53F	ENST00000376840		53	ttG/ttT	0	1	1	UPI00015ADD19	0	NA	ENST00000376840		ENSG00000204634	17791		23	1.74		HGNC	p.L53F	rs764116950	TBC1D8		SNV							ENST00000409318	protein_coding	getma.org/?cm=var&var=hg19,2,101706795,C,A&fts=all				L/F		A	low	159/3627		getma.org/?cm=msa&ty=f&p=TBCD8_HUMAN&rb=1&re=144&var=L53F	tolerated(0.17)				YES	TBC1D8,missense_variant,p.Leu53Phe,ENST00000409318,NM_001102426.1;TBC1D8,missense_variant,p.Leu53Phe,ENST00000376840,;RN7SL548P,upstream_gene_variant,,ENST00000579970,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000463469,;TBC1D8,non_coding_transcript_exon_variant,,ENST00000487392,;							MODERATE	159/3423	L53F	TBCD8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366036	8.27E-06	CCDS46375.1	0.00112		1	
TRPC1	0	LGGM	GRCh37	3	142509985	142509985	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	45	3	.	.	ENST00000476941.1:c.1422G>T	p.Val474=	p.V474=	ENST00000476941	NM_001251845.1	474	gtG/gtT	0	1	1	UPI00001374A4	0		ENST00000476941		ENSG00000144935	12333		48			HGNC	p.V474V		TRPC1		SNV							ENST00000476941	protein_coding			hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF3,Pfam_domain:PF00520,TIGRFAM_domain:TIGR00870		V		T		1908/3061							YES	TRPC1,synonymous_variant,p.=,ENST00000273482,NM_003304.4;TRPC1,synonymous_variant,p.=,ENST00000476941,NM_001251845.1;							LOW	1422/2382		TRPC1_HUMAN			Transcript			.	ENSP00000419313		CCDS58856.1			1	
NEB	0	LGGM	GRCh37	2	152580778	152580778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	21	3	.	.	ENST00000397345.3:c.608G>T	p.Ser203Ile	p.S203I	ENST00000397345	NM_001164508.1	203	aGc/aTc	0	1		UPI0000212787	0	NA	ENST00000172853		ENSG00000183091	7720		24	2.015		HGNC	p.S203I		NEB		SNV			1				ENST00000409198	protein_coding	getma.org/?cm=var&var=hg19,2,152580778,C,A&fts=all		Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		S/I		A	medium	756/20577		getma.org/?cm=msa&ty=f&p=NEBU_HUMAN&rb=168&re=236&var=S203I		J3QK84_HUMAN				NEB,missense_variant,p.Ser203Ile,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,missense_variant,p.Ser203Ile,ENST00000397345,NM_001164508.1;NEB,missense_variant,p.Ser203Ile,ENST00000604864,;NEB,missense_variant,p.Ser203Ile,ENST00000603639,;NEB,missense_variant,p.Ser203Ile,ENST00000409198,NM_004543.4;NEB,missense_variant,p.Ser203Ile,ENST00000172853,;							MODERATE	608/20010	S203I				Transcript		probably_damaging(0.996)	.	ENSP00000172853					1	
UNC45B	0	LGGM	GRCh37	17	33501370	33501370	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	39	3	.	.	ENST00000268876.5:c.1946C>A	p.Thr649Asn	p.T649N	ENST00000268876	NM_173167.2	649	aCc/aAc	0	1	1	UPI0000074455	0	getma.org/pdb.php?prot=UN45B_HUMAN&from=490&to=689&var=T649N	ENST00000268876		ENSG00000141161	14304		42	1.5		HGNC	p.T568N		UNC45B		SNV			1				ENST00000378449	protein_coding	getma.org/?cm=var&var=hg19,17,33501370,C,A&fts=all		hmmpanther:PTHR22904:SF299,hmmpanther:PTHR22904,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		T/N		A	low	2043/5679		getma.org/?cm=msa&ty=f&p=UN45B_HUMAN&rb=490&re=689&var=T649N	tolerated(0.14)				YES	UNC45B,missense_variant,p.Thr649Asn,ENST00000268876,NM_173167.2;UNC45B,missense_variant,p.Thr647Asn,ENST00000433649,NM_001033576.1,NM_001267052.1;UNC45B,missense_variant,p.Thr647Asn,ENST00000394570,;UNC45B,missense_variant,p.Thr568Asn,ENST00000378449,;UNC45B,missense_variant,p.Thr568Asn,ENST00000591048,;							MODERATE	1946/2796	T649N	UN45B_HUMAN			Transcript		benign(0.004)	.	ENSP00000268876		CCDS11292.1			1	
PDK1	0	LGGM	GRCh37	2	173451079	173451079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	25	3	.	.	ENST00000282077.3:c.1019C>A	p.Pro340Gln	p.P340Q	ENST00000282077		340	cCa/cAa	0	1	1	UPI0000001C7A	0	getma.org/pdb.php?prot=PDK1_HUMAN&from=268&to=392&var=P340Q	ENST00000282077		ENSG00000152256	8809		28	2.89		HGNC	p.P340Q		PDK1		SNV							ENST00000410055	protein_coding	getma.org/?cm=var&var=hg19,2,173451079,C,A&fts=all		PROSITE_profiles:PS50109,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF14,Gene3D:3.30.565.10,Pfam_domain:PF02518,SMART_domains:SM00387,Superfamily_domains:SSF55874		P/Q		A	medium	1201/14193		getma.org/?cm=msa&ty=f&p=PDK1_HUMAN&rb=268&re=392&var=P340Q	deleterious(0)	C9JKT3_HUMAN,Q53R49_HUMAN,B7Z7N6_HUMAN,B7Z207_HUMAN			YES	PDK1,missense_variant,p.Pro340Gln,ENST00000282077,;PDK1,missense_variant,p.Pro340Gln,ENST00000410055,NM_002610.4;PDK1,missense_variant,p.Pro264Gln,ENST00000543905,;PDK1,missense_variant,p.Pro360Gln,ENST00000392571,NM_001278549.1;PDK1,missense_variant,p.Pro185Gln,ENST00000544863,;PDK1,non_coding_transcript_exon_variant,,ENST00000466437,;							MODERATE	1019/1311	P340Q	PDK1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000282077		CCDS2250.1			1	
EMR1	0	LGGM	GRCh37	19	6921810	6921810	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	45	3	.	.	ENST00000312053.4:c.1707C>A	p.Ile569=	p.I569=	ENST00000312053	NM_001974.4	569	atC/atA	0	1	1	UPI0000203241	0		ENST00000312053		ENSG00000174837	3336		48			HGNC	p.I569I		EMR1		SNV							ENST00000250572	protein_coding			Pfam_domain:PF01825,Prints_domain:PR01128,PROSITE_profiles:PS50221,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207,SMART_domains:SM00303		I		A		1744/3128							YES	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;							LOW	1707/2661		EMR1_HUMAN			Transcript			.	ENSP00000311545		CCDS12175.1			1	
ERAP2	0	LGGM	GRCh37	5	96232140	96232140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	28	3	.	.	ENST00000437043.3:c.1303C>A	p.Pro435Thr	p.P435T	ENST00000437043	NM_001130140.1	435	Cct/Act	0	1	1	UPI0000036336	0	getma.org/pdb.php?prot=ERAP2_HUMAN&from=68&to=458&var=P435T	ENST00000437043		ENSG00000164308	29499		31	3.305		HGNC	p.P390T		ERAP2		SNV							ENST00000379904	protein_coding	getma.org/?cm=var&var=hg19,5,96232140,C,A&fts=all		hmmpanther:PTHR11533:SF166,hmmpanther:PTHR11533,Gene3D:1.10.390.10,Pfam_domain:PF01433,Superfamily_domains:SSF55486		P/T		A	medium	2014/5705		getma.org/?cm=msa&ty=f&p=ERAP2_HUMAN&rb=68&re=458&var=P435T	deleterious(0)	D6RGW0_HUMAN			YES	ERAP2,missense_variant,p.Pro435Thr,ENST00000437043,NM_001130140.1,NM_022350.3;ERAP2,missense_variant,p.Pro390Thr,ENST00000379904,;ERAP2,missense_variant,p.Pro435Thr,ENST00000510373,;ERAP2,intron_variant,,ENST00000508077,;ERAP2,non_coding_transcript_exon_variant,,ENST00000515095,;CTD-2260A17.2,intron_variant,,ENST00000501338,;ERAP2,missense_variant,p.Pro435Thr,ENST00000513084,;ERAP2,non_coding_transcript_exon_variant,,ENST00000515387,;ERAP2,upstream_gene_variant,,ENST00000513368,;							MODERATE	1303/2883	P435T	ERAP2_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000400376		CCDS4086.1			1	
TMEM74	0	LGGM	GRCh37	8	109796656	109796656	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	27	3	.	.	ENST00000297459.3:c.672G>T	p.Leu224=	p.L224=	ENST00000297459	NM_153015.1	224	ctG/ctT	0	1	1	UPI000006E80B	0		ENST00000297459		ENSG00000164841	26409		30			HGNC	p.L224L		TMEM74		SNV							ENST00000297459	protein_coding			hmmpanther:PTHR16125:SF3,hmmpanther:PTHR16125,Pfam_domain:PF14927		L		A		851/1741							YES	TMEM74,synonymous_variant,p.=,ENST00000297459,NM_153015.1;TMEM74,intron_variant,,ENST00000518838,;							LOW	672/918		TMM74_HUMAN			Transcript			.	ENSP00000297459		CCDS6310.1			1	
CIT	0	LGGM	GRCh37	12	120151356	120151356	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	25	3	.	.	ENST00000392521.2:c.4404C>T	p.Cys1468=	p.C1468=	ENST00000392521	NM_001206999.1	1468	tgC/tgT	0	1		UPI00001908FD	0		ENST00000261833		ENSG00000122966	1985		28			HGNC	p.C1426C	rs554282569	CIT		SNV							ENST00000261833	protein_coding			hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		C		A		4331/8578								CIT,synonymous_variant,p.=,ENST00000392521,NM_001206999.1;CIT,synonymous_variant,p.=,ENST00000261833,NM_007174.2;CIT,synonymous_variant,p.=,ENST00000392520,;MIR1178,downstream_gene_variant,,ENST00000408396,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,upstream_gene_variant,,ENST00000543324,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000543239,;CIT,non_coding_transcript_exon_variant,,ENST00000536008,;CIT,downstream_gene_variant,,ENST00000544588,;CIT,upstream_gene_variant,,ENST00000544800,;CIT,upstream_gene_variant,,ENST00000538073,;							LOW	4278/6084		CTRO_HUMAN			Transcript			.	ENSP00000261833		CCDS9192.1			1	
ZSWIM5	0	LGGM	GRCh37	1	45553878	45553878	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	44	3	.	.	ENST00000359600.5:c.627G>T	p.Leu209=	p.L209=	ENST00000359600	NM_020883.1	209	ctG/ctT	0	1	1	UPI00001C1D76	0		ENST00000359600		ENSG00000162415	29299		47			HGNC	p.L209L		ZSWIM5		SNV							ENST00000359600	protein_coding			hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2		L		A		833/5819							YES	ZSWIM5,synonymous_variant,p.=,ENST00000359600,NM_020883.1;ZSWIM5,non_coding_transcript_exon_variant,,ENST00000464588,;							LOW	627/3558		ZSWM5_HUMAN			Transcript			.	ENSP00000352614		CCDS41319.1			1	
LCP2	0	LGGM	GRCh37	5	169701337	169701337	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	34	3	.	.	ENST00000046794.5:c.292C>A	p.His98Asn	p.H98N	ENST00000046794	NM_005565.3	98	Cac/Aac	0	1	1	UPI000012E2AE	0	NA	ENST00000046794		ENSG00000043462	6529		37	1.155		HGNC	p.H98N		LCP2		SNV							ENST00000046794	protein_coding	getma.org/?cm=var&var=hg19,5,169701337,G,T&fts=all		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1		H/N		T	low	908/4678		getma.org/?cm=msa&ty=f&p=LCP2_HUMAN&rb=77&re=276&var=H98N	tolerated(0.29)				YES	LCP2,missense_variant,p.His98Asn,ENST00000046794,NM_005565.3;LCP2,non_coding_transcript_exon_variant,,ENST00000522760,;LCP2,non_coding_transcript_exon_variant,,ENST00000519594,;LCP2,downstream_gene_variant,,ENST00000522823,;							MODERATE	292/1602	H98N	LCP2_HUMAN			Transcript		benign(0.159)	.	ENSP00000046794		CCDS47339.1			1	
BAG3	0	LGGM	GRCh37	10	121432160	121432160	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	6	3	.	.	ENST00000369085.3:c.901A>T	p.Arg301Trp	p.R301W	ENST00000369085	NM_004281.3	301	Agg/Tgg	0	1	1	UPI0000000C7A	0	NA	ENST00000369085		ENSG00000151929	939		9	0.895		HGNC	p.R301W		BAG3		SNV			1				ENST00000369085	protein_coding	getma.org/?cm=var&var=hg19,10,121432160,A,T&fts=all		hmmpanther:PTHR12329,hmmpanther:PTHR12329:SF12		R/W		T	low	1207/2571		getma.org/?cm=msa&ty=f&p=BAG3_HUMAN&rb=253&re=423&var=R301W	deleterious(0)				YES	BAG3,missense_variant,p.Arg301Trp,ENST00000369085,NM_004281.3;BAG3,missense_variant,p.Arg243Trp,ENST00000450186,;							MODERATE	901/1728	R301W	BAG3_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000358081		CCDS7615.1			1	
ATP11B	0	LGGM	GRCh37	3	182547537	182547537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	23	3	.	.	ENST00000323116.5:c.312G>T	p.Lys104Asn	p.K104N	ENST00000323116	NM_014616.2	104	aaG/aaT	0	1	1	UPI000004124E	0	NA	ENST00000323116		ENSG00000058063	13553		26	3.78		HGNC	p.K104N		ATP11B		SNV							ENST00000493826	protein_coding	getma.org/?cm=var&var=hg19,3,182547537,G,T&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,Pfam_domain:PF00122,Superfamily_domains:0049473		K/N		T	high	572/7325		getma.org/?cm=msa&ty=f&p=AT11B_HUMAN&rb=93&re=371&var=K104N	deleterious(0)	B4E3T1_HUMAN			YES	ATP11B,missense_variant,p.Lys104Asn,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Lys104Asn,ENST00000493826,;ATP11B,upstream_gene_variant,,ENST00000482794,;							MODERATE	312/3534	K104N	AT11B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321195		CCDS33896.1			1	
LRGUK	0	LGGM	GRCh37	7	133821786	133821786	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	3	3	.	.	ENST00000285928.2:c.308A>T	p.Asp103Val	p.D103V	ENST00000285928	NM_144648.1	103	gAt/gTt	0	1	1	UPI0000072C76	0	NA	ENST00000285928		ENSG00000155530	21964		6	2.175		HGNC	p.D103V	COSM3374501	LRGUK		SNV						1	ENST00000285928	protein_coding	getma.org/?cm=var&var=hg19,7,133821786,A,T&fts=all		hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35		D/V		T	medium	377/3163		getma.org/?cm=msa&ty=f&p=LRGUK_HUMAN&rb=1&re=200&var=D103V	deleterious(0)				YES	LRGUK,missense_variant,p.Asp103Val,ENST00000285928,NM_144648.1;LRGUK,non_coding_transcript_exon_variant,,ENST00000473068,;					1		MODERATE	308/2478	D103V	LRGUK_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000285928		CCDS5830.1			1	
FDPS	0	LGGM	GRCh37	1	155287979	155287979	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	47	3	.	.	ENST00000356657.6:c.581C>G	p.Ala194Gly	p.A194G	ENST00000356657	NM_001135821.1	194	gCc/gGc	0	1	1	UPI000006E4F7	0	getma.org/pdb.php?prot=FPPS_HUMAN&from=110&to=382&var=A194G	ENST00000356657		ENSG00000160752	3631		50	2.39		HGNC	p.A128G		FDPS		SNV							ENST00000447866	protein_coding	getma.org/?cm=var&var=hg19,1,155287979,C,G&fts=all		Gene3D:1.10.600.10,Pfam_domain:PF00348,hmmpanther:PTHR11525,hmmpanther:PTHR11525:SF0,Superfamily_domains:SSF48576		A/G		G	medium	743/1478		getma.org/?cm=msa&ty=f&p=FPPS_HUMAN&rb=110&re=382&var=A194G	deleterious(0)				YES	FDPS,missense_variant,p.Ala194Gly,ENST00000356657,NM_001135821.1;FDPS,missense_variant,p.Ala194Gly,ENST00000368356,NM_002004.3;FDPS,missense_variant,p.Ala128Gly,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,;							MODERATE	581/1260	A194G	FPPS_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000349078		CCDS1110.1			1	
C12orf10	0	LGGM	GRCh37	12	53693585	53693585	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	33	3	.	.	ENST00000267103.5:c.64C>A	p.Arg22=	p.R22=	ENST00000267103	NM_021640.3	22	Cgg/Agg	0	1	1	UPI000013D729	0		ENST00000267103		ENSG00000139637	17590		36			HGNC	p.R22R		C12orf10		SNV							ENST00000267103	protein_coding			hmmpanther:PTHR11215,hmmpanther:PTHR11215:SF0		R		A		116/1192				F8VR84_HUMAN			YES	C12orf10,synonymous_variant,p.=,ENST00000267103,NM_021640.3;C12orf10,5_prime_UTR_variant,,ENST00000548632,;PFDN5,downstream_gene_variant,,ENST00000551018,NM_002624.3;C12orf10,upstream_gene_variant,,ENST00000549488,;PFDN5,downstream_gene_variant,,ENST00000334478,;PFDN5,downstream_gene_variant,,ENST00000549759,;PFDN5,downstream_gene_variant,,ENST00000351500,NM_145897.2;C12orf10,upstream_gene_variant,,ENST00000547864,;PFDN5,downstream_gene_variant,,ENST00000550846,;RP11-680A11.5,intron_variant,,ENST00000550263,;C12orf10,non_coding_transcript_exon_variant,,ENST00000548845,;C12orf10,non_coding_transcript_exon_variant,,ENST00000551670,;PFDN5,downstream_gene_variant,,ENST00000552341,;PFDN5,downstream_gene_variant,,ENST00000550513,;PFDN5,downstream_gene_variant,,ENST00000547228,;PFDN5,downstream_gene_variant,,ENST00000550069,;PFDN5,downstream_gene_variant,,ENST00000549995,;PFDN5,downstream_gene_variant,,ENST00000550964,;PFDN5,downstream_gene_variant,,ENST00000550880,;C12orf10,upstream_gene_variant,,ENST00000551131,;PFDN5,downstream_gene_variant,,ENST00000552742,;PFDN5,downstream_gene_variant,,ENST00000243040,;PFDN5,downstream_gene_variant,,ENST00000547130,;PFDN5,downstream_gene_variant,,ENST00000548984,;PFDN5,downstream_gene_variant,,ENST00000552548,;PFDN5,downstream_gene_variant,,ENST00000553171,;PFDN5,downstream_gene_variant,,ENST00000551223,;							LOW	64/1131		MYG1_HUMAN			Transcript			.	ENSP00000267103		CCDS31810.1			1	
CST5	0	LGGM	GRCh37	20	23860274	23860274	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	28	3	.	.	ENST00000304710.4:c.40G>T	p.Ala14Ser	p.A14S	ENST00000304710	NM_001900.4	14	Gcc/Tcc	0	1	1	UPI0000128D6F	0	NA	ENST00000304710		ENSG00000170367	2477		31	0		HGNC	p.A14S	rs752192707	CST5		SNV							ENST00000304710	protein_coding	getma.org/?cm=var&var=hg19,20,23860274,C,A&fts=all		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF43,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		A/S		A	neutral	114/756	1.51E-05	getma.org/?cm=msa&ty=f&p=CYTD_HUMAN&rb=1&re=31&var=A14S	deleterious(0.03)				YES	CST5,missense_variant,p.Ala14Ser,ENST00000304710,NM_001900.4;							MODERATE	40/429	A14S	CYTD_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000307132	8.24E-06	CCDS13162.1			1	
HSD17B10	0	LGGM	GRCh37	X	53459278	53459278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	26	3	.	.	ENST00000168216.6:c.274G>T	p.Ala92Ser	p.A92S	ENST00000168216	NM_001037811.2	92	Gca/Tca	0	1	1	UPI0000036BD7	0	getma.org/pdb.php?prot=HCD2_HUMAN&from=11&to=187&var=A92S	ENST00000168216		ENSG00000072506	4800		29	2.98		HGNC	p.A92S		HSD17B10		SNV			1				ENST00000168216	protein_coding	getma.org/?cm=var&var=hg19,X,53459278,C,A&fts=all		Prints_domain:PR00081,Prints_domain:PR00080,Superfamily_domains:SSF51735,Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24316,hmmpanther:PTHR24316:SF251		A/S		A	medium	302/960		getma.org/?cm=msa&ty=f&p=HCD2_HUMAN&rb=11&re=187&var=A92S	deleterious(0)				YES	HSD17B10,missense_variant,p.Ala92Ser,ENST00000168216,NM_001037811.2,NM_004493.2;HSD17B10,missense_variant,p.Ala92Ser,ENST00000375304,;HSD17B10,missense_variant,p.Ala92Ser,ENST00000375298,;RIBC1,downstream_gene_variant,,ENST00000457095,NM_144968.3;RIBC1,downstream_gene_variant,,ENST00000375327,NM_001031745.3;RIBC1,downstream_gene_variant,,ENST00000414955,NM_001267053.2;RIBC1,downstream_gene_variant,,ENST00000329209,;RP3-339A18.6,downstream_gene_variant,,ENST00000418049,;HSD17B10,non_coding_transcript_exon_variant,,ENST00000495986,;HSD17B10,upstream_gene_variant,,ENST00000477706,;RIBC1,downstream_gene_variant,,ENST00000490702,;							MODERATE	274/786	A92S	HCD2_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000168216		CCDS14354.1			1	
CBFA2T3	0	LGGM	GRCh37	16	88958848	88958848	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	25	3	.	.	ENST00000268679.4:c.425C>G	p.Pro142Arg	p.P142R	ENST00000268679	NM_005187.5	142	cCg/cGg	0	1	1	UPI0000167F93	0	NA	ENST00000268679		ENSG00000129993	1537		28	1.665		HGNC	p.P56R	rs774714666	CBFA2T3		SNV			1	0.0001			ENST00000569443	protein_coding	getma.org/?cm=var&var=hg19,16,88958848,G,C&fts=all		hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF6		P/R		C	low	822/4477	1.53E-05	getma.org/?cm=msa&ty=f&p=MTG16_HUMAN&rb=1&re=170&var=P142R	deleterious(0)	H3BSI4_HUMAN,H3BR72_HUMAN,H3BMZ0_HUMAN,B3KR45_HUMAN			YES	CBFA2T3,missense_variant,p.Pro142Arg,ENST00000268679,NM_005187.5;CBFA2T3,missense_variant,p.Pro56Arg,ENST00000360302,;CBFA2T3,missense_variant,p.Pro117Arg,ENST00000436887,;CBFA2T3,missense_variant,p.Pro66Arg,ENST00000448839,;CBFA2T3,missense_variant,p.Pro56Arg,ENST00000327483,NM_175931.2;CBFA2T3,missense_variant,p.Pro81Arg,ENST00000569464,;CBFA2T3,missense_variant,p.Pro117Arg,ENST00000563640,;CBFA2T3,missense_variant,p.Pro81Arg,ENST00000562719,;CBFA2T3,missense_variant,p.Pro56Arg,ENST00000569443,;							MODERATE	425/1962	P142R	MTG16_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000268679	1.65E-05	CCDS10972.1			1	
YIPF7	0	LGGM	GRCh37	4	44626785	44626785	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	10	4	.	.	ENST00000332990.5:c.513G>T	p.Gln171His	p.Q171H	ENST00000332990	NM_182592.2	171	caG/caT	0	1	1	UPI00015347BF	0	NA	ENST00000332990		ENSG00000177752	26825		14	-0.345		HGNC	p.Q171H	rs368914025	YIPF7		SNV							ENST00000332990	protein_coding	getma.org/?cm=var&var=hg19,4,44626785,C,A&fts=all		Pfam_domain:PF04893,hmmpanther:PTHR21236,hmmpanther:PTHR21236:SF5,Transmembrane_helices:TMhelix		Q/H		A	neutral	530/937		getma.org/?cm=msa&ty=f&p=YIPF7_HUMAN&rb=119&re=279&var=Q171H	tolerated(0.84)				YES	YIPF7,missense_variant,p.Gln147His,ENST00000415895,;YIPF7,missense_variant,p.Gln171His,ENST00000332990,NM_182592.2;YIPF7,downstream_gene_variant,,ENST00000510035,;YIPF7,downstream_gene_variant,,ENST00000502794,;							MODERATE	513/843	Q171H	YIPF7_HUMAN			Transcript		benign(0.01)	.	ENSP00000332772		CCDS54766.1			1	
CRISPLD2	0	LGGM	GRCh37	16	84883093	84883093	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	14	4	.	.	ENST00000262424.5:c.462C>T	p.Cys154=	p.C154=	ENST00000262424	NM_031476.3	154	tgC/tgT	0	1	1	UPI00000411B0	0		ENST00000262424		ENSG00000103196	25248		18			HGNC	p.C154C	rs768682092	CRISPLD2	0.000121	SNV							ENST00000262424	protein_coding			Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF64,SMART_domains:SM00198,Superfamily_domains:SSF55797		C		T		686/4584				H3BTP0_HUMAN,H3BSZ9_HUMAN,H3BS62_HUMAN			YES	CRISPLD2,synonymous_variant,p.=,ENST00000262424,NM_031476.3;CRISPLD2,synonymous_variant,p.=,ENST00000567845,;CRISPLD2,synonymous_variant,p.=,ENST00000564567,;CRISPLD2,5_prime_UTR_variant,,ENST00000563066,;CRISPLD2,5_prime_UTR_variant,,ENST00000566789,;CRISPLD2,downstream_gene_variant,,ENST00000569090,;AC025280.1,upstream_gene_variant,,ENST00000584136,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000566431,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000569262,;							LOW	462/1494		CRLD2_HUMAN			Transcript			.	ENSP00000262424	1.65E-05	CCDS10949.1			1	
TNS1	0	LGGM	GRCh37	2	218713033	218713033	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	11	4	.	.	ENST00000171887.4:c.1832A>T	p.His611Leu	p.H611L	ENST00000171887	NM_022648.4	611	cAt/cTt	0	1	1	UPI0000456EEB	0	NA	ENST00000171887		ENSG00000079308	11973		15	0		HGNC	p.H611L		TNS1		SNV							ENST00000171887	protein_coding	getma.org/?cm=var&var=hg19,2,218713033,T,A&fts=all		hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF40		H/L		A	neutral	2285/10331		getma.org/?cm=msa&ty=f&p=TENS1_HUMAN&rb=507&re=706&var=H611L	tolerated(0.61)	Q9UFN8_HUMAN,Q9H757_HUMAN,C9JZT0_HUMAN,C9JI43_HUMAN,C9JFT7_HUMAN			YES	TNS1,missense_variant,p.His611Leu,ENST00000171887,NM_022648.4;TNS1,missense_variant,p.His611Leu,ENST00000419504,;TNS1,missense_variant,p.His611Leu,ENST00000430930,;TNS1,missense_variant,p.His736Leu,ENST00000446903,;TNS1,downstream_gene_variant,,ENST00000413554,;TNS1,downstream_gene_variant,,ENST00000480665,;TNS1,downstream_gene_variant,,ENST00000479185,;							MODERATE	1832/5208	H611L	TENS1_HUMAN			Transcript		benign(0)	.	ENSP00000171887		CCDS2407.1			1	
ATG16L1	0	LGGM	GRCh37	2	234202961	234202961	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	6	4	.	.	ENST00000392017.4:c.1789A>T	p.Lys597Ter	p.K597*	ENST00000392017	NM_001190266.1	597	Aaa/Taa	0	1	1	UPI0000208D0D	0	NA	ENST00000392017		ENSG00000085978	21498		10	0		HGNC	p.K418X		ATG16L1		SNV			1				ENST00000373525	protein_coding	getma.org/?cm=var&var=hg19,2,234202961,A,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19878,hmmpanther:PTHR19878:SF3,SMART_domains:SM00320,Superfamily_domains:SSF50978		K/*		T	NA	2046/3405		NA		Q53SV2_HUMAN,Q17RG0_HUMAN,F8WAF9_HUMAN,D9N2U2_HUMAN,C9J8C6_HUMAN			YES	ATG16L1,stop_gained,p.Lys597Ter,ENST00000392017,NM_001190266.1,NM_030803.6,NM_001190267.1;ATG16L1,stop_gained,p.Lys614Ter,ENST00000392018,;ATG16L1,stop_gained,p.Lys578Ter,ENST00000392020,NM_017974.3;ATG16L1,stop_gained,p.Lys434Ter,ENST00000347464,NM_198890.2;ATG16L1,stop_gained,p.Lys418Ter,ENST00000373525,;ATG16L1,downstream_gene_variant,,ENST00000498620,;ATG16L1,downstream_gene_variant,,ENST00000464645,;ATG16L1,3_prime_UTR_variant,,ENST00000392021,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000474148,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000479942,;ATG16L1,non_coding_transcript_exon_variant,,ENST00000473865,;							HIGH	1789/1824	K597*	A16L1_HUMAN			Transcript			.	ENSP00000375872		CCDS2503.2			1	
C3orf18	0	LGGM	GRCh37	3	50602966	50602966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	5	4	.	.	ENST00000357203.3:c.165C>T	p.Gly55=	p.G55=	ENST00000357203	NM_016210.4	55	ggC/ggT	0	1	1	UPI0000209DCB	0		ENST00000357203		ENSG00000088543	24837		9			HGNC	p.G55G		C3orf18		SNV							ENST00000426034	protein_coding			hmmpanther:PTHR15868,hmmpanther:PTHR15868:SF0		G		A		705/2655							YES	C3orf18,synonymous_variant,p.=,ENST00000357203,NM_016210.4;C3orf18,synonymous_variant,p.=,ENST00000426034,NM_001171740.2;C3orf18,synonymous_variant,p.=,ENST00000449241,NM_001171741.2;C3orf18,synonymous_variant,p.=,ENST00000441239,NM_001171743.2;HEMK1,upstream_gene_variant,,ENST00000232854,NM_016173.3;HEMK1,upstream_gene_variant,,ENST00000434410,;HEMK1,upstream_gene_variant,,ENST00000455834,;C3orf18,upstream_gene_variant,,ENST00000422619,;C3orf18,non_coding_transcript_exon_variant,,ENST00000491269,;C3orf18,intron_variant,,ENST00000486175,;C3orf18,intron_variant,,ENST00000485902,;C3orf18,intron_variant,,ENST00000464080,;C3orf18,intron_variant,,ENST00000484982,;C3orf18,synonymous_variant,p.=,ENST00000430746,;HEMK1,upstream_gene_variant,,ENST00000448997,;HEMK1,upstream_gene_variant,,ENST00000482974,;HEMK1,upstream_gene_variant,,ENST00000424388,;							LOW	165/489		CC018_HUMAN			Transcript			.	ENSP00000349732		CCDS2829.1			1	
PCDH15	0	LGGM	GRCh37	10	55582883	55582883	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	9	4	.	.	ENST00000361849.3:c.4609del	p.Gln1537LysfsTer15	p.Q1537Kfs*15	ENST00000361849	NM_001142768.1	1537	Caa/aa	0	1		UPI000014083E	0		ENST00000320301		ENSG00000150275	14674		13			HGNC	p.Q1466fs		PCDH15		deletion			1				ENST00000437009	protein_coding					Q/X		-		4998/6845				A2A3D9_HUMAN				PCDH15,frameshift_variant,p.Gln1537LysfsTer15,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,frameshift_variant,p.Gln1495LysfsTer15,ENST00000395432,NM_001142767.1;PCDH15,frameshift_variant,p.Gln1512LysfsTer15,ENST00000395433,NM_001142773.1;PCDH15,frameshift_variant,p.Gln1535LysfsTer15,ENST00000320301,NM_033056.3;PCDH15,frameshift_variant,p.Gln1532LysfsTer15,ENST00000395430,NM_001142766.1;PCDH15,frameshift_variant,p.Gln1466LysfsTer15,ENST00000437009,;PCDH15,intron_variant,,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,intron_variant,,ENST00000414778,;PCDH15,intron_variant,,ENST00000395438,NM_001142770.1;PCDH15,intron_variant,,ENST00000395445,NM_001142769.1;PCDH15,intron_variant,,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,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;PCDH15,upstream_gene_variant,,ENST00000476074,;							HIGH	4603/5868		PCD15_HUMAN			Transcript			.	ENSP00000322604		CCDS7248.1			1	
CRISPLD2	0	LGGM	GRCh37	16	84883092	84883092	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	14	4	.	.	ENST00000262424.5:c.461G>T	p.Cys154Phe	p.C154F	ENST00000262424	NM_031476.3	154	tGc/tTc	0	1	1	UPI00000411B0	0	getma.org/pdb.php?prot=CRLD2_HUMAN&from=60&to=200&var=C154F	ENST00000262424		ENSG00000103196	25248		18	2.77		HGNC	p.C154F		CRISPLD2		SNV							ENST00000262424	protein_coding	getma.org/?cm=var&var=hg19,16,84883092,G,T&fts=all		Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF64,SMART_domains:SM00198,Superfamily_domains:SSF55797		C/F		T	medium	685/4584		getma.org/?cm=msa&ty=f&p=CRLD2_HUMAN&rb=60&re=200&var=C154F	deleterious(0)	H3BTP0_HUMAN,H3BSZ9_HUMAN,H3BS62_HUMAN			YES	CRISPLD2,missense_variant,p.Cys154Phe,ENST00000262424,NM_031476.3;CRISPLD2,missense_variant,p.Cys154Phe,ENST00000567845,;CRISPLD2,missense_variant,p.Cys154Phe,ENST00000564567,;CRISPLD2,5_prime_UTR_variant,,ENST00000563066,;CRISPLD2,5_prime_UTR_variant,,ENST00000566789,;CRISPLD2,downstream_gene_variant,,ENST00000569090,;AC025280.1,upstream_gene_variant,,ENST00000584136,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000566431,;CRISPLD2,non_coding_transcript_exon_variant,,ENST00000569262,;							MODERATE	461/1494	C154F	CRLD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262424		CCDS10949.1			1	
SH2B2	0	LGGM	GRCh37	7	101926002	101926002	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	5	5	.	.				ENST00000536178				0	1	1	UPI0002064F59	0		ENST00000536178		ENSG00000160999	17381		10		2403	HGNC	-		SH2B2		SNV							ENST00000437600	protein_coding							T		-/2061				F5GY53_HUMAN,C9JK89_HUMAN			YES	CUX1,splice_acceptor_variant,,ENST00000437600,NM_181500.2;CUX1,splice_acceptor_variant,,ENST00000292538,NM_001913.3;CUX1,splice_acceptor_variant,,ENST00000547394,NM_001202544.1;CUX1,splice_acceptor_variant,,ENST00000425244,NM_001202545.1;CUX1,splice_acceptor_variant,,ENST00000393824,NM_001202546.1;CUX1,splice_acceptor_variant,,ENST00000487284,;SH2B2,upstream_gene_variant,,ENST00000536178,;SH2B2,upstream_gene_variant,,ENST00000444095,;CUX1,splice_acceptor_variant,,ENST00000560541,;CUX1,splice_acceptor_variant,,ENST00000558836,;							MODIFIER	-/2016					Transcript			.	ENSP00000440273					1	
NGF	0	LGGM	GRCh37	1	115829119	115829119	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	9	5	.	.	ENST00000369512.2:c.298A>T	p.Thr100Ser	p.T100S	ENST00000369512	NM_002506.2	100	Act/Tct	0	1	1	UPI0000039B11	0	NA	ENST00000369512		ENSG00000134259	7808		14	1.1		HGNC	p.T100S		NGF		SNV			1				ENST00000369512	protein_coding	getma.org/?cm=var&var=hg19,1,115829119,T,A&fts=all		PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF10		T/S		A	low	467/1047		getma.org/?cm=msa&ty=f&p=NGF_HUMAN&rb=1&re=124&var=T100S	tolerated(0.55)				YES	NGF,missense_variant,p.Thr100Ser,ENST00000369512,NM_002506.2;RP4-663N10.1,intron_variant,,ENST00000425449,;							MODERATE	298/726	T100S	NGF_HUMAN			Transcript		benign(0)	.	ENSP00000358525		CCDS882.1			1	
HCN4	0	LGGM	GRCh37	15	73616123	73616123	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	3	5	.	.	ENST00000261917.3:c.2311C>T	p.Pro771Ser	p.P771S	ENST00000261917	NM_005477.2	771	Ccc/Tcc	0	1	1	UPI000003FFB5	0	NA	ENST00000261917		ENSG00000138622	16882		8	1.995		HGNC	p.P771S	rs775597851	HCN4	6.24E-05	SNV			1				ENST00000261917	protein_coding	getma.org/?cm=var&var=hg19,15,73616123,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF375		P/S		A	medium	3305/7228		getma.org/?cm=msa&ty=f&p=HCN4_HUMAN&rb=699&re=830&var=P771S	deleterious(0.03)				YES	HCN4,missense_variant,p.Pro771Ser,ENST00000261917,NM_005477.2;							MODERATE	2311/3612	P771S	HCN4_HUMAN			Transcript		unknown(0)	.	ENSP00000261917	8.24E-06	CCDS10248.1			1	
ANKRD24	0	LGGM	GRCh37	19	4216822	4216822	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	8	5	.	.	ENST00000600132.1:c.1665A>G	p.Lys555=	p.K555=	ENST00000600132	NM_133475.1	555	aaA/aaG	0	1		UPI000041F5A9	0		ENST00000318934		ENSG00000089847	29424		13			HGNC	p.K645K		ANKRD24		SNV							ENST00000262970	protein_coding			hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF8		K		G		1821/3906								ANKRD24,synonymous_variant,p.=,ENST00000600132,NM_133475.1;ANKRD24,synonymous_variant,p.=,ENST00000318934,;ANKRD24,synonymous_variant,p.=,ENST00000262970,;ANKRD24,synonymous_variant,p.=,ENST00000597689,;ANKRD24,downstream_gene_variant,,ENST00000595096,;							LOW	1665/3441		ANR24_HUMAN			Transcript			.	ENSP00000321731		CCDS45925.1			1	
TP53	0	LGGM	GRCh37	17	7578191	7578191	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	4	5	.	.	ENST00000269305.4:c.658T>G	p.Tyr220Asp	p.Y220D	ENST00000269305	NM_001126112.2	220	Tat/Gat	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y220D	ENST00000269305		ENSG00000141510	11998		9	3.02		HGNC	p.Y220D	TP53_g.12727T>G,COSM11847,COSM2744705,COSM2744707,COSM2744709,COSM3773305,COSM2744706,COSM2744708	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578191,A,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/D		C	medium	848/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y220D	deleterious(0)	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			YES	TP53,missense_variant,p.Tyr220Asp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr220Asp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr220Asp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr220Asp,ENST00000445888,;TP53,missense_variant,p.Tyr220Asp,ENST00000359597,;TP53,missense_variant,p.Tyr220Asp,ENST00000413465,;TP53,missense_variant,p.Tyr88Asp,ENST00000509690,;TP53,missense_variant,p.Tyr127Asp,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,;					0,1,1,1,1,1,1,1		MODERATE	658/1182	Y220D	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
SLC1A7	0	LGGM	GRCh37	1	53553709	53553709	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	8	6	.	.	ENST00000371494.4:c.1655A>T	p.Gln552Leu	p.Q552L	ENST00000371494	NM_006671.4	552	cAg/cTg	0	1	1	UPI000013DED8	0	NA	ENST00000371494		ENSG00000162383	10945		14	0		HGNC	p.Q552L		SLC1A7		SNV							ENST00000371494	protein_coding	getma.org/?cm=var&var=hg19,1,53553709,T,A&fts=all				Q/L		A	neutral	1783/2637		getma.org/?cm=msa&ty=f&p=EAA5_HUMAN&rb=477&re=560&var=Q552L	deleterious_low_confidence(0)	F1T0D2_HUMAN			YES	SLC1A7,missense_variant,p.Gln552Leu,ENST00000371494,NM_006671.4;PODN,downstream_gene_variant,,ENST00000371500,NM_001199080.1;PODN,downstream_gene_variant,,ENST00000312553,NM_001199081.1,NM_153703.4;PODN,downstream_gene_variant,,ENST00000395871,NM_001199082.1;RP11-334A14.5,upstream_gene_variant,,ENST00000447867,;SLC1A7,non_coding_transcript_exon_variant,,ENST00000488036,;							MODERATE	1655/1683	Q552L	EAA5_HUMAN			Transcript		benign(0.012)	.	ENSP00000360549		CCDS574.1			1	
MFSD6	0	LGGM	GRCh37	2	191301876	191301876	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	15	6	.	.	ENST00000392328.1:c.1121T>G	p.Val374Gly	p.V374G	ENST00000392328	NM_017694.3	374	gTc/gGc	0	1		UPI000022BD91	0	NA	ENST00000281416		ENSG00000151690	24711		21	0.895		HGNC	p.V374G		MFSD6		SNV							ENST00000281416	protein_coding	getma.org/?cm=var&var=hg19,2,191301876,T,G&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Gene3D:1.20.1250.20,hmmpanther:PTHR16172,hmmpanther:PTHR16172:SF2		V/G		G	low	1256/4608		getma.org/?cm=msa&ty=f&p=MFSD6_HUMAN&rb=344&re=449&var=V374G	deleterious(0)	C9JJH2_HUMAN,C9JAZ7_HUMAN,C9J134_HUMAN,C9IYL1_HUMAN,B7Z810_HUMAN,B7Z7Y2_HUMAN				MFSD6,missense_variant,p.Val374Gly,ENST00000392328,NM_017694.3;MFSD6,missense_variant,p.Val374Gly,ENST00000281416,;MFSD6,upstream_gene_variant,,ENST00000434582,;MFSD6,downstream_gene_variant,,ENST00000445546,;MFSD6,downstream_gene_variant,,ENST00000432036,;MFSD6,downstream_gene_variant,,ENST00000417958,;							MODERATE	1121/2376	V374G	MFSD6_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000281416		CCDS2306.1			1	
AHDC1	0	LGGM	GRCh37	1	27877013	27877013	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	12	7	.	.	ENST00000374011.2:c.1614G>A	p.Glu538=	p.E538=	ENST00000374011	NM_001029882.2	538	gaG/gaA	0	1		UPI0000418EA1	0		ENST00000247087		ENSG00000126705	25230		19			HGNC	p.E538E		AHDC1		SNV			1				ENST00000247087	protein_coding			hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1		E		T		2211/6334								AHDC1,synonymous_variant,p.=,ENST00000374011,NM_001029882.2;AHDC1,synonymous_variant,p.=,ENST00000247087,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;							LOW	1614/4812		AHDC1_HUMAN			Transcript			.	ENSP00000247087		CCDS30652.1			1	
UNC80	0	LGGM	GRCh37	2	210699706	210699706	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	21	7	.	.	ENST00000439458.1:c.3013T>A	p.Ser1005Thr	p.S1005T	ENST00000439458	NM_032504.1	1005	Tct/Act	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		28	0.69		HGNC	p.S1005T		UNC80		SNV							ENST00000439458	protein_coding	getma.org/?cm=var&var=hg19,2,210699706,T,A&fts=all		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		S/T		A	neutral	3093/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=781&re=1169&var=S1005T					YES	UNC80,missense_variant,p.Ser1005Thr,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Ser1000Thr,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;							MODERATE	3013/9777	S1005T	UNC80_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000391088		CCDS46504.1			1	
GAD1	0	LGGM	GRCh37	2	171699108	171699108	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	15	7	.	.	ENST00000358196.3:c.639-1447T>A		*213*	ENST00000358196	NM_000817.2			0	1	1	UPI000002D729	0		ENST00000358196		ENSG00000128683	4092		22			HGNC	p.L223Q		GAD1		SNV			1				ENST00000375272	protein_coding							A		-/3604				Q09LL7_HUMAN,C9JT43_HUMAN,C9JN45_HUMAN,C9JLZ7_HUMAN,C9J6C9_HUMAN			YES	GAD1,missense_variant,p.Leu223Gln,ENST00000375272,NM_013445.3;GAD1,missense_variant,p.Leu223Gln,ENST00000344257,;GAD1,intron_variant,,ENST00000358196,NM_000817.2;GAD1,non_coding_transcript_exon_variant,,ENST00000429023,;GAD1,intron_variant,,ENST00000493875,;GAD1,intron_variant,,ENST00000414527,;GAD1,upstream_gene_variant,,ENST00000462739,;							MODIFIER	-/1785		DCE1_HUMAN			Transcript			.	ENSP00000350928		CCDS2239.1			1	
SUN2	0	LGGM	GRCh37	22	39138480	39138480	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	10	7	.	.	ENST00000405018.1:c.957G>A	p.Trp319Ter	p.W319*	ENST00000405018	NM_001199579.1	319	tgG/tgA	0	1		UPI0000137937	0	NA	ENST00000405510		ENSG00000100242	14210		17	0		HGNC	p.W298X		SUN2		SNV							ENST00000216064	protein_coding	getma.org/?cm=var&var=hg19,22,39138480,C,T&fts=all		hmmpanther:PTHR12911:SF17,hmmpanther:PTHR12911		W/*		T	NA	1253/4055		NA		Q6NT72_HUMAN,B0QY68_HUMAN,B0QY66_HUMAN,B0QY64_HUMAN				SUN2,stop_gained,p.Trp298Ter,ENST00000405510,NM_001199580.1;SUN2,stop_gained,p.Trp319Ter,ENST00000405018,NM_001199579.1;SUN2,stop_gained,p.Trp298Ter,ENST00000216064,NM_015374.2;SUN2,stop_gained,p.Trp298Ter,ENST00000406622,;SUN2,stop_gained,p.Trp287Ter,ENST00000411587,;GTPBP1,downstream_gene_variant,,ENST00000458073,;SUN2,downstream_gene_variant,,ENST00000438058,;SUN2,upstream_gene_variant,,ENST00000455125,;SUN2,downstream_gene_variant,,ENST00000430185,;GTPBP1,downstream_gene_variant,,ENST00000489527,;RP3-508I15.14,intron_variant,,ENST00000416406,;RP3-508I15.19,downstream_gene_variant,,ENST00000418803,;RP3-508I15.21,upstream_gene_variant,,ENST00000609212,;RP3-508I15.18,downstream_gene_variant,,ENST00000420118,;RP3-508I15.22,upstream_gene_variant,,ENST00000607991,;SUN2,non_coding_transcript_exon_variant,,ENST00000469086,;SUN2,non_coding_transcript_exon_variant,,ENST00000464202,;SUN2,upstream_gene_variant,,ENST00000477262,;SUN2,upstream_gene_variant,,ENST00000470642,;							HIGH	894/2154	W298*	SUN2_HUMAN			Transcript			.	ENSP00000385740		CCDS13978.1			1	
FZD1	0	LGGM	GRCh37	7	90895961	90895961	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	5	7	.	.	ENST00000287934.2:c.1766G>A	p.Gly589Asp	p.G589D	ENST00000287934	NM_003505.1	589	gGc/gAc	0	1	1	UPI000005104D	0	NA	ENST00000287934		ENSG00000157240	4038		12	-0.345		HGNC	p.G589D		FZD1		SNV							ENST00000287934	protein_coding	getma.org/?cm=var&var=hg19,7,90895961,G,A&fts=all		Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81		G/D		A	neutral	2179/4341		getma.org/?cm=msa&ty=f&p=FZD1_HUMAN&rb=309&re=640&var=G589D	tolerated(0.61)				YES	FZD1,missense_variant,p.Gly589Asp,ENST00000287934,NM_003505.1;							MODERATE	1766/1944	G589D	FZD1_HUMAN			Transcript		benign(0.276)	.	ENSP00000287934		CCDS5620.1			1	
PLXNA1	0	LGGM	GRCh37	3	126710293	126710293	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	12	7	.	.	ENST00000393409.2:c.1261A>T	p.Ile421Phe	p.I421F	ENST00000393409	NM_032242.3	421	Att/Ttt	0	1	1	UPI00001A7983	0	getma.org/pdb.php?prot=PLXA1_HUMAN&from=51&to=495&var=I421F	ENST00000393409		ENSG00000114554	9099		19	2.76		HGNC	p.I421F		PLXNA1		SNV							ENST00000393409	protein_coding	getma.org/?cm=var&var=hg19,3,126710293,A,T&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		I/F		T	medium	1261/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=51&re=495&var=I421F	deleterious(0)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Ile398Phe,ENST00000251772,;PLXNA1,missense_variant,p.Ile421Phe,ENST00000393409,NM_032242.3;							MODERATE	1261/5691	I421F	PLXA1_HUMAN			Transcript		benign(0.401)	.	ENSP00000377061		CCDS33847.2			1	
TDRD1	0	LGGM	GRCh37	10	115962862	115962862	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	8	7	.	.	ENST00000251864.2:c.728T>C	p.Ile243Thr	p.I243T	ENST00000251864	NM_198795.1	243	aTa/aCa	0	1	1	UPI00001F9753	0	NA	ENST00000251864		ENSG00000095627	11712		15	1.355		HGNC	p.I243T		TDRD1		SNV							ENST00000369281	protein_coding	getma.org/?cm=var&var=hg19,10,115962862,T,C&fts=all		hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4		I/T		C	low	881/4510		getma.org/?cm=msa&ty=f&p=TDRD1_HUMAN&rb=207&re=259&var=I243T	tolerated(0.31)				YES	TDRD1,missense_variant,p.Ile243Thr,ENST00000251864,NM_198795.1;TDRD1,missense_variant,p.Ile243Thr,ENST00000369281,;TDRD1,missense_variant,p.Ile243Thr,ENST00000369280,;TDRD1,missense_variant,p.Ile243Thr,ENST00000369282,;TDRD1,5_prime_UTR_variant,,ENST00000422662,;							MODERATE	728/3570	I243T	TDRD1_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000251864		CCDS7588.1			1	
MGAM	0	LGGM	GRCh37	7	141786093	141786093	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	14	8	.	.	ENST00000549489.2:c.4619-8327A>T		*1540*	ENST00000549489	NM_004668.2			0	1	1	UPI000183CB7B	0		ENST00000549489		ENSG00000257335	7043	0.000203	22			HGNC	p.K2239X	rs761186074	MGAM		SNV							ENST00000475668	protein_coding							T		-/6525				Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,stop_gained,p.Lys2238Ter,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;							MODIFIER	-/5574		MGA_HUMAN			Transcript			.	ENSP00000447378	8.54E-06	CCDS47727.1			1	
IGSF3	0	LGGM	GRCh37	1	117142629	117142629	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	17	8	.	.	ENST00000369483.1:c.2023A>C	p.Asn675His	p.N675H	ENST00000369483	NM_001542.3	675	Aac/Cac	0	1		UPI00003FEC88	0	NA	ENST00000369486		ENSG00000143061	5950		25	1.04		HGNC	p.N675H		IGSF3		SNV			1				ENST00000369483	protein_coding	getma.org/?cm=var&var=hg19,1,117142629,T,G&fts=all		Pfam_domain:PF13895,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,SMART_domains:SM00409		N/H		G	low	2729/7254		getma.org/?cm=msa&ty=f&p=IGSF3_HUMAN&rb=547&re=673&var=N655H	deleterious(0.02)					IGSF3,missense_variant,p.Asn655His,ENST00000369486,NM_001007237.2;IGSF3,missense_variant,p.Asn675His,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Asn675His,ENST00000318837,;							MODERATE	1963/3585	N655H	IGSF3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000358498		CCDS30813.1			1	
LRRC18	0	LGGM	GRCh37	10	50122030	50122030	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	3	8	.	.	ENST00000374160.3:c.171T>A	p.Leu57=	p.L57=	ENST00000374160	NM_001006939.3	57	ctT/ctA	0	1		UPI000013E49A	0		ENST00000298124		ENSG00000165383	23199		11			HGNC	p.L57L		LRRC18		SNV							ENST00000298124	protein_coding			Superfamily_domains:SSF52058,SMART_domains:SM00369,Pfam_domain:PF00560,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF22,hmmpanther:PTHR23155,PROSITE_profiles:PS51450		L		T		272/1008								LRRC18,synonymous_variant,p.=,ENST00000374160,NM_001006939.3;LRRC18,synonymous_variant,p.=,ENST00000298124,;WDFY4,intron_variant,,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000413659,;WDFY4,intron_variant,,ENST00000265453,;RP11-523O18.7,intron_variant,,ENST00000430438,;							LOW	171/768		LRC18_HUMAN			Transcript			.	ENSP00000298124					1	
OLAH	0	LGGM	GRCh37	10	15115168	15115168	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	37	8	.	.	ENST00000378217.3:c.897G>C	p.Glu299Asp	p.E299D	ENST00000378217	NM_018324.2	299	gaG/gaC	0	1		UPI0000047465	0	getma.org/pdb.php?prot=SAST_HUMAN&from=27&to=257&var=E246D	ENST00000378228		ENSG00000152463	25625		45	3.005		HGNC	p.E246D		OLAH		SNV							ENST00000378228	protein_coding	getma.org/?cm=var&var=hg19,10,15115168,G,C&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00975,hmmpanther:PTHR11487,Superfamily_domains:SSF53474		E/D		C	medium	992/1675		getma.org/?cm=msa&ty=f&p=SAST_HUMAN&rb=27&re=257&var=E246D	deleterious(0.03)	Q5VUB9_HUMAN,Q5VUB8_HUMAN				OLAH,missense_variant,p.Glu299Asp,ENST00000378217,NM_018324.2;OLAH,missense_variant,p.Glu246Asp,ENST00000378228,NM_001039702.2;ACBD7,downstream_gene_variant,,ENST00000356189,NM_001039844.2;OLAH,non_coding_transcript_exon_variant,,ENST00000485251,;DCLRE1CP1,intron_variant,,ENST00000378211,;							MODERATE	738/798	E246D	SAST_HUMAN			Transcript		benign(0.29)	.	ENSP00000367473		CCDS31152.1			1	
OBSCN	0	LGGM	GRCh37	1	228462349	228462349	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	6	8	.	.	ENST00000570156.2:c.6885C>T	p.Cys2295=	p.C2295=	ENST00000570156	NM_001271223.2	2295	tgC/tgT	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		14			HGNC	p.C767C	rs369791051,COSM1339591,COSM1339592,COSM1339593,COSM1339590	OBSCN		SNV	T:0					0,1,1,1,1	ENST00000359599	protein_coding		T:0	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		C	T:0.0001	T		5804/24030					T:0	T:0.005		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,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;OBSCN,upstream_gene_variant,,ENST00000366706,;RP5-1139B12.3,non_coding_transcript_exon_variant,,ENST00000602529,;RP5-1139B12.2,upstream_gene_variant,,ENST00000602517,;RP5-1139B12.3,downstream_gene_variant,,ENST00000602947,;	0.0078	T:0.0010			0,1,1,1,1		LOW	5760/23907		OBSCN_HUMAN		T:0	Transcript			common_variant	ENSP00000409493	0.000496	CCDS58065.1		T:0	1	
FBXW9	0	LGGM	GRCh37	19	12805680	12805680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	12	9	.	.	ENST00000393261.3:c.482G>T	p.Arg161Leu	p.R161L	ENST00000393261	NM_032301.2	161	cGc/cTc	0	1	1	UPI0000203473	0	NA	ENST00000393261		ENSG00000132004	28136		21	0.695		HGNC	p.R161L		FBXW9		SNV							ENST00000380339	protein_coding	getma.org/?cm=var&var=hg19,19,12805680,C,A&fts=all		hmmpanther:PTHR22844:SF3,hmmpanther:PTHR22844,SMART_domains:SM00320		R/L		A	neutral	544/1738		getma.org/?cm=msa&ty=f&p=FBXW9_HUMAN&rb=127&re=167&var=R161L	tolerated(0.16)				YES	FBXW9,missense_variant,p.Arg161Leu,ENST00000380339,;FBXW9,missense_variant,p.Arg161Leu,ENST00000393261,NM_032301.2;FBXW9,missense_variant,p.Arg151Leu,ENST00000587955,;FBXW9,intron_variant,,ENST00000544494,;TNPO2,downstream_gene_variant,,ENST00000425528,;TNPO2,downstream_gene_variant,,ENST00000441499,NM_001136195.1;TNPO2,downstream_gene_variant,,ENST00000450764,;TNPO2,downstream_gene_variant,,ENST00000356861,NM_013433.4;FBXW9,intron_variant,,ENST00000587296,;							MODERATE	482/1377	R161L	FBXW9_HUMAN			Transcript		benign(0.259)	.	ENSP00000376945		CCDS12278.2			1	
ERBB4	0	LGGM	GRCh37	2	212812268	212812268	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	12	9	.	.	ENST00000342788.4:c.308G>T	p.Arg103Leu	p.R103L	ENST00000342788	NM_005235.2	103	cGc/cTc	0	1	1	UPI00000499DF	0	getma.org/pdb.php?prot=ERBB4_HUMAN&from=55&to=167&var=R103L	ENST00000342788		ENSG00000178568	3432		21	3.325		HGNC	p.R44L	COSM573349,COSM1649742	ERBB4		SNV			1			1,1	ENST00000435846	protein_coding	getma.org/?cm=var&var=hg19,2,212812268,C,A&fts=all		Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,Superfamily_domains:SSF52058		R/L		A	medium	619/12132		getma.org/?cm=msa&ty=f&p=ERBB4_HUMAN&rb=55&re=167&var=R103L	deleterious(0.02)	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,missense_variant,p.Arg103Leu,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Arg103Leu,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Arg103Leu,ENST00000402597,;ERBB4,missense_variant,p.Arg103Leu,ENST00000260943,;ERBB4,missense_variant,p.Arg44Leu,ENST00000435846,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484474,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;					1,1		MODERATE	308/3927	R103L	ERBB4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000342235		CCDS2394.1			1	
TPSG1	0	LGGM	GRCh37	16	1272227	1272227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	9	9	.	.	ENST00000234798.4:c.626T>A	p.Leu209Gln	p.L209Q	ENST00000234798	NM_012467.3	209	cTg/cAg	0	1	1	UPI000013C9BB	0	getma.org/pdb.php?prot=TRYG1_HUMAN&from=38&to=265&var=L209Q	ENST00000234798		ENSG00000116176	14134		18	2.87		HGNC	p.L209Q		TPSG1		SNV							ENST00000234798	protein_coding	getma.org/?cm=var&var=hg19,16,1272227,A,T&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24268,hmmpanther:PTHR24268:SF90,SMART_domains:SM00020,Superfamily_domains:SSF50494		L/Q		T	medium	631/1108		getma.org/?cm=msa&ty=f&p=TRYG1_HUMAN&rb=38&re=265&var=L209Q	deleterious(0)				YES	TPSG1,missense_variant,p.Leu209Gln,ENST00000234798,NM_012467.3;CACNA1H,downstream_gene_variant,,ENST00000348261,NM_021098.2;CACNA1H,downstream_gene_variant,,ENST00000358590,NM_001005407.1;CACNA1H,downstream_gene_variant,,ENST00000565831,;CACNA1H,downstream_gene_variant,,ENST00000564927,;CACNA1H,downstream_gene_variant,,ENST00000569107,;CACNA1H,downstream_gene_variant,,ENST00000564231,;CACNA1H,downstream_gene_variant,,ENST00000562079,;TPSG1,downstream_gene_variant,,ENST00000564684,;							MODERATE	626/966	L209Q	TRYG1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000234798		CCDS10430.1			1	
NUP153	0	LGGM	GRCh37	6	17633077	17633078	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	GA	novel	by Submitter	H092431	H092431N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	6	10	.	.	ENST00000262077.2:c.2465-3_2465-2insTC		p.X822_splice	ENST00000262077	NM_001278210.1			0	1	1	UPI000013D251	0		ENST00000262077		ENSG00000124789	8062		16			HGNC	-		NUP153		insertion							ENST00000262077	protein_coding							GA		-/5487							YES	NUP153,splice_region_variant,,ENST00000262077,NM_001278210.1,NM_005124.3;NUP153,splice_region_variant,,ENST00000537253,NM_001278209.1;							LOW	-/4428		NU153_HUMAN			Transcript			.	ENSP00000262077		CCDS4541.1			1	
SMEK1	0	LGGM	GRCh37	14	91939663	91939663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	28	10	.	.	ENST00000554684.1:c.1279C>A	p.Pro427Thr	p.P427T	ENST00000554684	NM_001284280.1	427	Cct/Act	0	1		UPI000037834C	0	NA	ENST00000554943		ENSG00000100796	20219		38	2.57		HGNC	p.P427T		SMEK1		SNV							ENST00000337238	protein_coding	getma.org/?cm=var&var=hg19,14,91939663,G,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR23318,hmmpanther:PTHR23318:SF3		P/T		T	medium	1434/3369		getma.org/?cm=msa&ty=f&p=P4R3A_HUMAN&rb=358&re=557&var=P440T	deleterious(0.01)	G3V4R3_HUMAN,G3V231_HUMAN				SMEK1,missense_variant,p.Pro427Thr,ENST00000554684,NM_001284280.1;SMEK1,missense_variant,p.Pro427Thr,ENST00000337238,NM_032560.4;SMEK1,missense_variant,p.Pro440Thr,ENST00000554943,;SMEK1,missense_variant,p.Pro201Thr,ENST00000555462,NM_001284281.1;SMEK1,missense_variant,p.Pro201Thr,ENST00000428424,;SMEK1,downstream_gene_variant,,ENST00000555470,;SMEK1,downstream_gene_variant,,ENST00000555029,;SMEK1,missense_variant,p.Pro427Thr,ENST00000554390,;SMEK1,missense_variant,p.Pro430Thr,ENST00000554308,;SMEK1,downstream_gene_variant,,ENST00000554574,;							MODERATE	1318/2502	P440T	P4R3A_HUMAN			Transcript		benign(0.055)	.	ENSP00000450883					1	
PTPRJ	0	LGGM	GRCh37	11	48185020	48185020	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	19	11	.	.	ENST00000418331.2:c.3569G>T	p.Ser1190Ile	p.S1190I	ENST00000418331	NM_002843.3	1190	aGt/aTt	0	1	1	UPI00004564C8	0	getma.org/pdb.php?prot=PTPRJ_HUMAN&from=1065&to=1297&var=S1190I	ENST00000418331		ENSG00000149177	9673		30	2.08		HGNC	p.S1190I		PTPRJ		SNV							ENST00000418331	protein_coding	getma.org/?cm=var&var=hg19,11,48185020,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF211,SMART_domains:SM00194,Superfamily_domains:SSF52799		S/I		T	medium	3921/5122		getma.org/?cm=msa&ty=f&p=PTPRJ_HUMAN&rb=1065&re=1297&var=S1190I	deleterious(0.03)	Q9NPR5_HUMAN			YES	PTPRJ,missense_variant,p.Ser1190Ile,ENST00000418331,NM_002843.3;							MODERATE	3569/4014	S1190I	PTPRJ_HUMAN			Transcript		possibly_damaging(0.604)	.	ENSP00000400010		CCDS7945.1			1	
NMT2	0	LGGM	GRCh37	10	15174916	15174916	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	27	11	.	.	ENST00000378165.4:c.619G>C	p.Gly207Arg	p.G207R	ENST00000378165	NM_004808.2	207	Ggc/Cgc	0	1	1	UPI0000130278	0	getma.org/pdb.php?prot=NMT2_HUMAN&from=137&to=296&var=G207R	ENST00000378165		ENSG00000152465	7858		38	3.645		HGNC	p.G19R		NMT2		SNV							ENST00000540259	protein_coding	getma.org/?cm=var&var=hg19,10,15174916,C,G&fts=all		Gene3D:3.40.630.30,Pfam_domain:PF01233,PIRSF_domain:PIRSF015892,hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF6,Superfamily_domains:SSF55729		G/R		G	high	700/2907		getma.org/?cm=msa&ty=f&p=NMT2_HUMAN&rb=137&re=296&var=G207R	deleterious(0)	B4DXS1_HUMAN			YES	NMT2,missense_variant,p.Gly207Arg,ENST00000378165,NM_004808.2;NMT2,missense_variant,p.Gly194Arg,ENST00000378150,;NMT2,missense_variant,p.Gly19Arg,ENST00000540259,;NMT2,missense_variant,p.Gly194Arg,ENST00000535341,;NMT2,non_coding_transcript_exon_variant,,ENST00000478580,;RPP38,intron_variant,,ENST00000451677,;							MODERATE	619/1497	G207R	NMT2_HUMAN			Transcript		benign(0.443)	.	ENSP00000367407		CCDS7109.1			1	
SEMA3G	0	LGGM	GRCh37	3	52469944	52469944	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	3	11	.	.	ENST00000231721.2:c.2024T>G	p.Val675Gly	p.V675G	ENST00000231721	NM_020163.1	675	gTg/gGg	0	1	1	UPI000004250D	0	NA	ENST00000231721		ENSG00000010319	30400		14	-0.9		HGNC	p.V675G		SEMA3G		SNV							ENST00000231721	protein_coding	getma.org/?cm=var&var=hg19,3,52469944,A,C&fts=all		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20		V/G		C	neutral	2024/4899		getma.org/?cm=msa&ty=f&p=SEM3G_HUMAN&rb=582&re=781&var=V675G	tolerated(0.35)				YES	SEMA3G,missense_variant,p.Val675Gly,ENST00000231721,NM_020163.1;SEMA3G,downstream_gene_variant,,ENST00000465657,;							MODERATE	2024/2349	V675G	SEM3G_HUMAN			Transcript		benign(0.001)	.	ENSP00000231721		CCDS2856.1			1	
CXorf38	0	LGGM	GRCh37	X	40506756	40506756	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	15	11	.	.	ENST00000327877.5:c.17T>A	p.Leu6Gln	p.L6Q	ENST00000327877	NM_144970.2	6	cTa/cAa	0	1	1	UPI000007293E	0	NA	ENST00000327877		ENSG00000185753	28589		26	1.845		HGNC	p.L6Q		CXorf38		SNV							ENST00000440784	protein_coding	getma.org/?cm=var&var=hg19,X,40506756,A,T&fts=all				L/Q		T	low	44/2118		getma.org/?cm=msa&ty=f&p=CX038_HUMAN&rb=1&re=317&var=L6Q	deleterious(0)				YES	CXorf38,missense_variant,p.Leu6Gln,ENST00000327877,NM_144970.2;CXorf38,missense_variant,p.Leu6Gln,ENST00000440784,;CXorf38,missense_variant,p.Leu6Gln,ENST00000378418,;CXorf38,5_prime_UTR_variant,,ENST00000378426,;CXorf38,5_prime_UTR_variant,,ENST00000378421,;MED14,downstream_gene_variant,,ENST00000324817,NM_004229.3;MED14,downstream_gene_variant,,ENST00000416199,;							MODERATE	17/960	L6Q	CX038_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330488		CCDS14253.1			1	
SEMA3G	0	LGGM	GRCh37	3	52469947	52469947	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	5	11	.	.	ENST00000231721.2:c.2021T>A	p.Ile674Asn	p.I674N	ENST00000231721	NM_020163.1	674	aTt/aAt	0	1	1	UPI000004250D	0	NA	ENST00000231721		ENSG00000010319	30400		16	2.35		HGNC	p.I674N		SEMA3G		SNV							ENST00000231721	protein_coding	getma.org/?cm=var&var=hg19,3,52469947,A,T&fts=all		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20		I/N		T	medium	2021/4899		getma.org/?cm=msa&ty=f&p=SEM3G_HUMAN&rb=582&re=781&var=I674N	deleterious(0)				YES	SEMA3G,missense_variant,p.Ile674Asn,ENST00000231721,NM_020163.1;SEMA3G,downstream_gene_variant,,ENST00000465657,;							MODERATE	2021/2349	I674N	SEM3G_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000231721		CCDS2856.1			1	
DMD	0	LGGM	GRCh37	X	32503081	32503081	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	23	12	.	.	ENST00000357033.4:c.2758C>T	p.Gln920Ter	p.Q920*	ENST00000357033	NM_004007.2	920	Caa/Taa	0	1	1	UPI000049E111	0	NA	ENST00000357033	pathogenic	ENSG00000198947	2928		35	0		HGNC	p.Q920X	rs398123905,DMD:c.2758C>T	DMD		SNV			1			1,0	ENST00000357033	protein_coding	getma.org/?cm=var&var=hg19,X,32503081,G,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		Q/*		A	NA	2965/13956		NA		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			YES	DMD,stop_gained,p.Gln920Ter,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,stop_gained,p.Gln916Ter,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,;							HIGH	2758/11058	Q920*				Transcript			.	ENSP00000354923		CCDS14233.1			1	
WSCD2	0	LGGM	GRCh37	12	108641899	108641899	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	16	12	.	.	ENST00000332082.4:c.1477C>T	p.Arg493Trp	p.R493W	ENST00000332082		493	Cgg/Tgg	0	1	1	UPI00001C1F3A	0	getma.org/pdb.php?prot=WSCD2_HUMAN&from=315&to=514&var=R493W	ENST00000332082		ENSG00000075035	29117	8.64E-05	28	2.56		HGNC	p.R493W	rs531947353	WSCD2		SNV							ENST00000332082	protein_coding	getma.org/?cm=var&var=hg19,12,108641899,C,T&fts=all	T:0	Gene3D:3.40.50.300,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF5,Superfamily_domains:SSF52540		R/W		T	medium	2295/4710	1.50E-05	getma.org/?cm=msa&ty=f&p=WSCD2_HUMAN&rb=315&re=514&var=R493W	deleterious(0)	F8W030_HUMAN	T:0	T:0.001	YES	WSCD2,missense_variant,p.Arg493Trp,ENST00000332082,;WSCD2,missense_variant,p.Arg513Trp,ENST00000261400,;WSCD2,missense_variant,p.Arg493Trp,ENST00000547525,NM_014653.2;WSCD2,missense_variant,p.Arg513Trp,ENST00000549903,;		T:0.0002					MODERATE	1477/1698	R493W	WSCD2_HUMAN		T:0	Transcript		probably_damaging(0.947)	.	ENSP00000331933	1.65E-05	CCDS41828.1		T:0	1	
TREM1	0	LGGM	GRCh37	6	41248721	41248721	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	18	12	.	.	ENST00000244709.4:c.577A>T	p.Thr193Ser	p.T193S	ENST00000244709	NM_018643.3	193	Aca/Tca	0	1	1	UPI0000047FA9	0	NA	ENST00000244709		ENSG00000124731	17760		30	1.845		HGNC	p.T193S		TREM1		SNV							ENST00000244709	protein_coding	getma.org/?cm=var&var=hg19,6,41248721,T,A&fts=all		hmmpanther:PTHR19357:SF1,hmmpanther:PTHR19357		T/S		A	low	641/1690		getma.org/?cm=msa&ty=f&p=TREM1_HUMAN&rb=134&re=234&var=T193S	tolerated(0.06)	Q38L15_HUMAN			YES	TREM1,missense_variant,p.Thr193Ser,ENST00000591620,NM_001242589.1;TREM1,missense_variant,p.Thr193Ser,ENST00000244709,NM_018643.3;TREM1,missense_variant,p.Thr193Ser,ENST00000589614,;TREM1,intron_variant,,ENST00000334475,NM_001242590.1;TREM1,non_coding_transcript_exon_variant,,ENST00000589882,;TREM1,non_coding_transcript_exon_variant,,ENST00000589695,;TREM1,downstream_gene_variant,,ENST00000586287,;							MODERATE	577/705	T193S	TREM1_HUMAN			Transcript		benign(0.211)	.	ENSP00000244709		CCDS4854.1			1	
ACP6	0	LGGM	GRCh37	1	147124294	147124294	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	26	12	.	.	ENST00000369238.6:c.839G>T	p.Arg280Ile	p.R280I	ENST00000369238	NM_016361.4	280	aGa/aTa	0	1	1	UPI000013E1D8	0	getma.org/pdb.php?prot=PPA6_HUMAN&from=49&to=379&var=R280I	ENST00000369238		ENSG00000162836	29609		38	1.995		HGNC	p.R280I		ACP6		SNV							ENST00000369238	protein_coding	getma.org/?cm=var&var=hg19,1,147124294,C,A&fts=all		Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF116,Superfamily_domains:SSF53254		R/I		A	medium	1287/6926		getma.org/?cm=msa&ty=f&p=PPA6_HUMAN&rb=49&re=379&var=R280I	deleterious(0)				YES	ACP6,missense_variant,p.Arg280Ile,ENST00000369238,NM_016361.4;ACP6,missense_variant,p.Arg108Ile,ENST00000609196,;ACP6,downstream_gene_variant,,ENST00000392988,;ACP6,intron_variant,,ENST00000487562,;ACP6,upstream_gene_variant,,ENST00000460583,;							MODERATE	839/1287	R280I	PPA6_HUMAN			Transcript		benign(0.246)	.	ENSP00000358241		CCDS928.1			1	
FAM86B1	0	LGGM	GRCh37	8	12044055	12044055	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	66	12	.	.	ENST00000448228.2:c.446C>T	p.Ala149Val	p.A149V	ENST00000448228	NM_001083537.1	149	gCa/gTa	0	1	1	UPI0000F58EC4	0	NA	ENST00000448228		ENSG00000186523	28268		78	1.985		HGNC	p.A149V		FAM86B1		SNV							ENST00000448228	protein_coding	getma.org/?cm=var&var=hg19,8,12044055,G,A&fts=all		hmmpanther:PTHR23109:SF2,hmmpanther:PTHR23109,Gene3D:3.40.50.150,Pfam_domain:PF10294,Superfamily_domains:SSF53335		A/V		A	medium	496/2096		getma.org/?cm=msa&ty=f&p=F86B1_HUMAN&rb=90&re=263&var=A149V	deleterious(0.05)	H9XFB3_HUMAN			YES	FAM86B1,missense_variant,p.Ala149Val,ENST00000448228,NM_001083537.1;FAM86B1,missense_variant,p.Ala183Val,ENST00000533852,;FAM86B1,3_prime_UTR_variant,,ENST00000524571,;FAM86B1,3_prime_UTR_variant,,ENST00000533513,;FAM86B1,intron_variant,,ENST00000321602,;FAM86B1,intron_variant,,ENST00000534520,;FAM86B1,3_prime_UTR_variant,,ENST00000431227,;FAM86B1,3_prime_UTR_variant,,ENST00000526708,;FAM86B1,non_coding_transcript_exon_variant,,ENST00000529617,;FAM86B1,intron_variant,,ENST00000529146,;FAM86B1,intron_variant,,ENST00000534187,;FAM86B1,intron_variant,,ENST00000340537,;FAM86B1,intron_variant,,ENST00000530385,;FAM86B1,intron_variant,,ENST00000524893,;FAM86B1,intron_variant,,ENST00000529060,;FAM86B1,intron_variant,,ENST00000527300,;FAM86B1,intron_variant,,ENST00000534732,;FAM86B1,intron_variant,,ENST00000531833,;FAM86B1,intron_variant,,ENST00000525822,;FAM86B1,upstream_gene_variant,,ENST00000530508,;ALG1L11P,downstream_gene_variant,,ENST00000511660,;							MODERATE	446/891	A149V	F86B1_HUMAN			Transcript		benign(0.021)	.	ENSP00000407067		CCDS59512.1			1	
MCM3	0	LGGM	GRCh37	6	52137127	52137127	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	22	13	.	.	ENST00000596288.1:c.1934A>T	p.Gln645Leu	p.Q645L	ENST00000596288	NM_002388.4	645	cAg/cTg	0	1		UPI000012ED97	0	getma.org/pdb.php?prot=MCM3_HUMAN&from=280&to=654&var=Q600L	ENST00000229854		ENSG00000112118	6945		35	1.68		HGNC	p.Q95L		MCM3		SNV							ENST00000421471	protein_coding	getma.org/?cm=var&var=hg19,6,52137127,T,A&fts=all		Pfam_domain:PF00493,hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72,SMART_domains:SM00350,Superfamily_domains:SSF52540		Q/L		A	low	1876/3083		getma.org/?cm=msa&ty=f&p=MCM3_HUMAN&rb=280&re=654&var=Q600L	tolerated(0.45)	Q8NHX6_HUMAN				MCM3,missense_variant,p.Gln645Leu,ENST00000596288,NM_002388.4;MCM3,missense_variant,p.Gln600Leu,ENST00000229854,;MCM3,missense_variant,p.Gln554Leu,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Gln95Leu,ENST00000421471,;MCM3,downstream_gene_variant,,ENST00000476448,;							MODERATE	1799/2427	Q600L	MCM3_HUMAN			Transcript		benign(0.209)	.	ENSP00000229854					1	
LRP2	0	LGGM	GRCh37	2	170096068	170096068	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	17	13	.	.	ENST00000263816.3:c.4263A>T	p.Leu1421Phe	p.L1421F	ENST00000263816	NM_004525.2	1421	ttA/ttT	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=1390&to=1428&var=L1421F	ENST00000263816		ENSG00000081479	6694		30	3.23		HGNC	p.L1421F		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170096068,T,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,PROSITE_patterns:PS01186,Pfam_domain:PF07645,Gene3D:2.10.25.10,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		L/F		A	medium	4549/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=1390&re=1428&var=L1421F		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Leu1421Phe,ENST00000263816,NM_004525.2;LRP2,downstream_gene_variant,,ENST00000443831,;							MODERATE	4263/13968	L1421F	LRP2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000263816		CCDS2232.1			1	
SORBS3	0	LGGM	GRCh37	8	22428488	22428488	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	18	13	.	.	ENST00000240123.7:c.1497G>T	p.Thr499=	p.T499=	ENST00000240123	NM_005775.4	499	acG/acT	0	1	1	UPI00001AE6B5	0		ENST00000240123		ENSG00000120896	30907		31			HGNC	p.T157T		SORBS3		SNV							ENST00000523900	protein_coding			Gene3D:2.30.30.40,Pfam_domain:PF00018,PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF68,SMART_domains:SM00326,Superfamily_domains:SSF50044		T		T		1880/3459				E5RJP2_HUMAN,E5RIA0_HUMAN,E5RHI2_HUMAN,E5RH58_HUMAN			YES	SORBS3,synonymous_variant,p.=,ENST00000240123,NM_005775.4;SORBS3,synonymous_variant,p.=,ENST00000428103,NM_001018003.2;SORBS3,synonymous_variant,p.=,ENST00000523965,;SORBS3,synonymous_variant,p.=,ENST00000517962,;SORBS3,synonymous_variant,p.=,ENST00000521554,;SORBS3,synonymous_variant,p.=,ENST00000523348,;SORBS3,synonymous_variant,p.=,ENST00000523900,;SORBS3,downstream_gene_variant,,ENST00000518912,;SORBS3,downstream_gene_variant,,ENST00000522721,;SORBS3,upstream_gene_variant,,ENST00000520207,;SORBS3,upstream_gene_variant,,ENST00000519127,;RP11-582J16.3,upstream_gene_variant,,ENST00000517384,;SORBS3,non_coding_transcript_exon_variant,,ENST00000523740,;SORBS3,downstream_gene_variant,,ENST00000521787,;SORBS3,non_coding_transcript_exon_variant,,ENST00000517535,;SORBS3,downstream_gene_variant,,ENST00000517500,;SORBS3,downstream_gene_variant,,ENST00000522315,;SORBS3,downstream_gene_variant,,ENST00000519453,;							LOW	1497/2016		VINEX_HUMAN			Transcript			.	ENSP00000240123		CCDS6031.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H092431	H092431N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	10	25	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		35			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
NDN	0	LGGM	GRCh37	15	23931559	23931559	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	24	14	.	.	ENST00000331837.4:c.806A>T	p.Glu269Val	p.E269V	ENST00000331837	NM_002487.2	269	gAa/gTa	0	1	1	UPI000012FEF1	0	getma.org/pdb.php?prot=NECD_HUMAN&from=105&to=275&var=E269V	ENST00000331837		ENSG00000182636	7675		38	2.885		HGNC	p.E269V		NDN		SNV			1				ENST00000331837	protein_coding	getma.org/?cm=var&var=hg19,15,23931559,T,A&fts=all		Pfam_domain:PF01454,hmmpanther:PTHR11736,PROSITE_profiles:PS50838,hmmpanther:PTHR11736:SF10		E/V		A	medium	892/1886		getma.org/?cm=msa&ty=f&p=NECD_HUMAN&rb=105&re=275&var=E269V	deleterious(0)				YES	NDN,missense_variant,p.Glu269Val,ENST00000331837,NM_002487.2;							MODERATE	806/966	E269V	NECD_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000332643		CCDS10014.1			1	
POU4F3	0	LGGM	GRCh37	5	145719453	145719453	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	4	14	.	.	ENST00000230732.4:c.463C>T	p.Leu155=	p.L155=	ENST00000230732	NM_002700.2	155	Ctg/Ttg	0	1	1	UPI0000131D91	0		ENST00000230732		ENSG00000091010	9220		18			HGNC	p.L155L		POU4F3		SNV			1				ENST00000230732	protein_coding			hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF43		L		T		552/1182							YES	POU4F3,synonymous_variant,p.=,ENST00000230732,NM_002700.2;RBM27,downstream_gene_variant,,ENST00000506502,;CTC-359M8.1,intron_variant,,ENST00000515598,;							LOW	463/1017		PO4F3_HUMAN			Transcript			.	ENSP00000230732		CCDS4281.1			1	
SETD1A	0	LGGM	GRCh37	16	30975526	30975526	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	19	15	.	.	ENST00000262519.8:c.751A>T	p.Ser251Cys	p.S251C	ENST00000262519	NM_014712.1	251	Agc/Tgc	0	1	1	UPI00001C1FA9	0	NA	ENST00000262519		ENSG00000099381	29010		34	1.75		HGNC	p.S251C		SETD1A		SNV							ENST00000262519	protein_coding	getma.org/?cm=var&var=hg19,16,30975526,A,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295		S/C		T	low	1437/6903		getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=167&re=366&var=S251C		C9J2Z9_HUMAN			YES	SETD1A,missense_variant,p.Ser251Cys,ENST00000262519,NM_014712.1;SETD1A,downstream_gene_variant,,ENST00000452917,;							MODERATE	751/5124	S251C	SET1A_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000262519		CCDS32435.1			1	
UBL7	0	LGGM	GRCh37	15	74738487	74738487	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	20	15	.	.	ENST00000567435.1:c.1087A>G	p.Thr363Ala	p.T363A	ENST00000567435	NM_001286741.1	363	Acc/Gcc	0	1		UPI000006D10A	0	getma.org/pdb.php?prot=UBL7_HUMAN&from=337&to=374&var=T363A	ENST00000361351		ENSG00000138629	28221		35	1.32		HGNC	p.T363A		UBL7		SNV							ENST00000395081	protein_coding	getma.org/?cm=var&var=hg19,15,74738487,T,C&fts=all		Gene3D:1.10.8.10,Pfam_domain:PF00627,PROSITE_profiles:PS50030,hmmpanther:PTHR10677,SMART_domains:SM00165,Superfamily_domains:SSF46934		T/A		C	low	1191/1360		getma.org/?cm=msa&ty=f&p=UBL7_HUMAN&rb=337&re=374&var=T363A	deleterious(0.02)	D3DW56_HUMAN				UBL7,missense_variant,p.Thr363Ala,ENST00000567435,NM_001286741.1,NM_001286740.1;UBL7,missense_variant,p.Thr363Ala,ENST00000564488,NM_001286742.1;UBL7,missense_variant,p.Thr363Ala,ENST00000395081,NM_032907.3;UBL7,missense_variant,p.Thr363Ala,ENST00000565335,NM_001286739.1;UBL7,missense_variant,p.Thr363Ala,ENST00000361351,NM_201265.1;UBL7,missense_variant,p.Thr165Ala,ENST00000566365,;UBL7,missense_variant,p.Thr97Ala,ENST00000565494,;UBL7,downstream_gene_variant,,ENST00000565130,;UBL7,downstream_gene_variant,,ENST00000563081,;							MODERATE	1087/1143	T363A	UBL7_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000354883		CCDS10263.1			1	
GOLGA3	0	LGGM	GRCh37	12	133353221	133353221	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	24	15	.	.	ENST00000204726.3:c.3977A>T	p.Gln1326Leu	p.Q1326L	ENST00000204726	NM_005895.3	1326	cAg/cTg	0	1	1	UPI0000190979	0	NA	ENST00000204726		ENSG00000090615	4426		39	2.095		HGNC	p.Q1326L		GOLGA3		SNV							ENST00000204726	protein_coding	getma.org/?cm=var&var=hg19,12,133353221,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902:SF20,hmmpanther:PTHR18902		Q/L		A	medium	4536/9252		getma.org/?cm=msa&ty=f&p=GOGA3_HUMAN&rb=1163&re=1371&var=Q1326L	deleterious(0)				YES	GOLGA3,missense_variant,p.Gln1326Leu,ENST00000204726,NM_005895.3;GOLGA3,missense_variant,p.Gln1326Leu,ENST00000450791,;GOLGA3,missense_variant,p.Gln1326Leu,ENST00000456883,;GOLGA3,splice_region_variant,,ENST00000541013,;							MODERATE	3977/4497	Q1326L	GOGA3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000204726		CCDS9281.1			1	
NACA	0	LGGM	GRCh37	12	57114854	57114854	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	16	15	.	.	ENST00000550952.1:c.460C>T	p.Pro154Ser	p.P154S	ENST00000550952		154	Cca/Tca	0	1		UPI0000073EC7	0	NA	ENST00000356769		ENSG00000196531	7629		31	0		HGNC	p.P154S		NACA		SNV							ENST00000550952	protein_coding	getma.org/?cm=var&var=hg19,12,57114854,G,A&fts=all						A	neutral	-/2690		getma.org/?cm=msa&ty=f&p=E9PAV3_HUMAN&rb=1&re=669&var=P154S		F8W1N5_HUMAN,F8W0W4_HUMAN,F8VZJ2_HUMAN,F8VZ58_HUMAN,B2R4P8_HUMAN				NACA,missense_variant,p.Pro154Ser,ENST00000454682,NM_001113203.2;NACA,missense_variant,p.Pro154Ser,ENST00000550952,;NACA,intron_variant,,ENST00000356769,NM_001113202.1;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000546862,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551793,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551520,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000548084,;							MODIFIER	-/648	P154S	NACA_HUMAN			Transcript			.	ENSP00000349212		CCDS31837.1			1	
RAB27B	0	LGGM	GRCh37	18	52544846	52544846	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	2	15	.	.	ENST00000262094.5:c.30C>G	p.Ile10Met	p.I10M	ENST00000262094	NM_004163.4	10	atC/atG	0	1	1	UPI0000001268	0	getma.org/pdb.php?prot=RB27B_HUMAN&from=1&to=10&var=I10M	ENST00000262094		ENSG00000041353	9767		17	1.46		HGNC	p.I10M		RAB27B		SNV							ENST00000262094	protein_coding	getma.org/?cm=var&var=hg19,18,52544846,C,G&fts=all		Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF424,PROSITE_profiles:PS51419		I/M		G	low	551/7281		getma.org/?cm=msa&ty=f&p=RB27B_HUMAN&rb=1&re=40&var=I10M	deleterious(0.01)	K7ES41_HUMAN			YES	RAB27B,missense_variant,p.Ile10Met,ENST00000262094,NM_004163.4;RAB27B,missense_variant,p.Ile10Met,ENST00000586570,;RP11-99A1.2,upstream_gene_variant,,ENST00000590604,;RAB27B,non_coding_transcript_exon_variant,,ENST00000586594,;							MODERATE	30/657	I10M	RB27B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262094		CCDS11958.1			1	
RCBTB2	0	LGGM	GRCh37	13	49075897	49075897	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	5	15	.	.	ENST00000344532.3:c.1225A>G	p.Lys409Glu	p.K409E	ENST00000344532	NM_001268.2	409	Aaa/Gaa	0	1	1	UPI00000372FA	0	getma.org/pdb.php?prot=RCBT2_HUMAN&from=384&to=487&var=K409E	ENST00000344532		ENSG00000136161	1914		20	3.805		HGNC	p.K414E		RCBTB2		SNV							ENST00000430805	protein_coding	getma.org/?cm=var&var=hg19,13,49075897,T,C&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF122,SMART_domains:SM00225,Superfamily_domains:SSF54695		K/E		C	high	1649/3232		getma.org/?cm=msa&ty=f&p=RCBT2_HUMAN&rb=384&re=487&var=K409E	deleterious(0)				YES	RCBTB2,missense_variant,p.Lys409Glu,ENST00000344532,NM_001268.2,NM_001286831.1;RCBTB2,missense_variant,p.Lys414Glu,ENST00000430805,;RCBTB2,missense_variant,p.Lys135Glu,ENST00000544492,;RCBTB2,downstream_gene_variant,,ENST00000544904,;							MODERATE	1225/1656	K409E	RCBT2_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000345144		CCDS9411.1			1	
ADAMTS19	0	LGGM	GRCh37	5	128990089	128990089	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	7	16	.	.	ENST00000274487.4:c.2249A>T	p.Tyr750Phe	p.Y750F	ENST00000274487	NM_133638.3	750	tAt/tTt	0	1	1	UPI000013DA0D	0	getma.org/pdb.php?prot=ATS19_HUMAN&from=686&to=789&var=Y750F	ENST00000274487		ENSG00000145808	17111		23	0.55		HGNC	p.Y750F		ADAMTS19		SNV							ENST00000274487	protein_coding	getma.org/?cm=var&var=hg19,5,128990089,A,T&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Prints_domain:PR01857		Y/F		T	neutral	2394/5234		getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=686&re=789&var=Y750F	tolerated(0.28)				YES	ADAMTS19,missense_variant,p.Tyr750Phe,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;							MODERATE	2249/3624	Y750F	ATS19_HUMAN			Transcript		benign(0.048)	.	ENSP00000274487		CCDS4146.1			1	
RTN4	0	LGGM	GRCh37	2	55254342	55254342	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	34	16	.	.	ENST00000337526.6:c.893C>T	p.Ser298Leu	p.S298L	ENST00000337526	NM_020532.4	298	tCa/tTa	0	1	1	UPI000000D81D	0	NA	ENST00000337526		ENSG00000115310	14085		50	2.095		HGNC	p.S92L		RTN4		SNV							ENST00000394611	protein_coding	getma.org/?cm=var&var=hg19,2,55254342,G,A&fts=all		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25		S/L		A	medium	1137/4790		getma.org/?cm=msa&ty=f&p=RTN4_HUMAN&rb=201&re=400&var=S298L	deleterious(0)	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN			YES	RTN4,missense_variant,p.Ser298Leu,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Ser92Leu,ENST00000394611,;RTN4,missense_variant,p.Ser92Leu,ENST00000357376,NM_207521.1;RTN4,missense_variant,p.Ser92Leu,ENST00000404909,;RTN4,missense_variant,p.Ser92Leu,ENST00000405240,;RTN4,missense_variant,p.Ser66Leu,ENST00000354474,;RTN4,intron_variant,,ENST00000357732,NM_207520.1;RTN4,intron_variant,,ENST00000317610,NM_153828.2;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000438462,;RTN4,downstream_gene_variant,,ENST00000427710,;							MODERATE	893/3579	S298L	RTN4_HUMAN			Transcript		possibly_damaging(0.816)	.	ENSP00000337838		CCDS42684.1			1	
ARF6	0	LGGM	GRCh37	14	50360497	50360497	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	19	16	.	.	ENST00000298316.5:c.43C>A	p.Arg15=	p.R15=	ENST00000298316	NM_001663.3	15	Cgg/Agg	0	1	1	UPI0000021AA1	0		ENST00000298316		ENSG00000165527	659		35			HGNC	p.R15R		ARF6		SNV							ENST00000298316	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00025,Prints_domain:PR00328,PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF106,SMART_domains:SM00175,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		R		A		590/1583							YES	ARF6,synonymous_variant,p.=,ENST00000298316,NM_001663.3;							LOW	43/528		ARF6_HUMAN			Transcript			.	ENSP00000298316		CCDS9695.1			1	
WDR17	0	LGGM	GRCh37	4	177083300	177083300	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	10	16	.	.	ENST00000280190.4:c.2897G>T	p.Cys966Phe	p.C966F	ENST00000280190		966	tGc/tTc	0	1	1	UPI000019C575	0	NA	ENST00000280190		ENSG00000150627	16661		26	2.28		HGNC	p.C949F		WDR17		SNV							ENST00000507824	protein_coding	getma.org/?cm=var&var=hg19,4,177083300,G,T&fts=all				C/F		T	medium	3053/4705		getma.org/?cm=msa&ty=f&p=WDR17_HUMAN&rb=775&re=1320&var=C966F	deleterious(0)	Q0QD35_HUMAN,E7EP77_HUMAN			YES	WDR17,missense_variant,p.Cys942Phe,ENST00000393643,NM_170710.4;WDR17,missense_variant,p.Cys209Phe,ENST00000443118,;WDR17,missense_variant,p.Cys966Phe,ENST00000280190,;WDR17,missense_variant,p.Cys942Phe,ENST00000508596,NM_181265.3;WDR17,missense_variant,p.Cys949Phe,ENST00000507824,;							MODERATE	2897/3969	C966F	WDR17_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000280190		CCDS3825.1			1	
HDAC9	0	LGGM	GRCh37	7	18767232	18767232	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	24	16	.	.	ENST00000441542.2:c.1761G>A	p.Ala587=	p.A587=	ENST00000441542	NM_178425.2	587	gcG/gcA	0	1		UPI000012C3B3	0		ENST00000432645		ENSG00000048052	14065		40			HGNC	p.A587A	COSM1449837,COSM1449836	HDAC9		SNV			1			1,1	ENST00000441542	protein_coding			PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF116		A		A		1752/3099				Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,Q75N08_HUMAN,C9JLX1_HUMAN,C9JD56_HUMAN				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,;					1,1		LOW	1752/3036		HDAC9_HUMAN			Transcript			.	ENSP00000410337		CCDS47555.1			1	
CNTN2	0	LGGM	GRCh37	1	205022334	205022334	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	30	16	.	.	ENST00000331830.4:c.21G>A	p.Arg7=	p.R7=	ENST00000331830	NM_005076.3	7	agG/agA	0	1	1	UPI00001266A5	0		ENST00000331830		ENSG00000184144	2172		46			HGNC	p.R7R	rs774429323	CNTN2		SNV			1				ENST00000331830	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF50,Cleavage_site_(Signalp):SignalP-noTM		R		A		305/8141	1.50E-05						YES	CNTN2,synonymous_variant,p.=,ENST00000331830,NM_005076.3;CNTN2,upstream_gene_variant,,ENST00000532366,;							LOW	21/3123		CNTN2_HUMAN			Transcript			.	ENSP00000330633	8.24E-06	CCDS1449.1			1	
RP1	0	LGGM	GRCh37	8	55534739	55534739	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	27	17	.	.	ENST00000220676.1:c.678A>C	p.Pro226=	p.P226=	ENST00000220676	NM_006269.1	226	ccA/ccC	0	1	1	UPI000013455B	0		ENST00000220676		ENSG00000104237	10263		44			HGNC	p.P226P		RP1		SNV			1				ENST00000220676	protein_coding			Superfamily_domains:SSF89837,SMART_domains:SM00537,Pfam_domain:PF03607,Gene3D:1mfwA00,hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005,PROSITE_profiles:PS50309		P		C		826/7100				A0FDN2_HUMAN			YES	RP1,synonymous_variant,p.=,ENST00000220676,NM_006269.1;							LOW	678/6471		RP1_HUMAN			Transcript			.	ENSP00000220676		CCDS6160.1			1	
QKI	0	LGGM	GRCh37	6	163983018	163983018	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	21	17	.	.	ENST00000361752.3:c.551A>T	p.Glu184Val	p.E184V	ENST00000361752	NM_006775.2	184	gAa/gTa	0	1	1	UPI0000029EBD	0	getma.org/pdb.php?prot=QKI_HUMAN&from=180&to=341&var=E184V	ENST00000361752		ENSG00000112531	21100		38	2.305		HGNC	p.E184V		QKI		SNV							ENST00000361195	protein_coding	getma.org/?cm=var&var=hg19,6,163983018,A,T&fts=all		Gene3D:3.30.1370.10,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF36,Superfamily_domains:SSF54791		E/V		T	medium	1102/9463		getma.org/?cm=msa&ty=f&p=QKI_HUMAN&rb=180&re=341&var=E184V	deleterious(0)	F5H8C8_HUMAN,F5H5U6_HUMAN,F5GYM3_HUMAN			YES	QKI,missense_variant,p.Glu184Val,ENST00000361752,NM_006775.2,NM_206855.2,NM_206854.2,NM_206853.2;QKI,missense_variant,p.Glu184Val,ENST00000392127,;QKI,missense_variant,p.Glu184Val,ENST00000275262,;QKI,missense_variant,p.Glu184Val,ENST00000453779,;QKI,missense_variant,p.Glu81Val,ENST00000537883,;QKI,missense_variant,p.Glu184Val,ENST00000361195,;QKI,missense_variant,p.Glu184Val,ENST00000424802,;QKI,missense_variant,p.Glu18Val,ENST00000544361,;QKI,missense_variant,p.Glu129Val,ENST00000544823,;QKI,missense_variant,p.Glu129Val,ENST00000537041,;QKI,missense_variant,p.Glu184Val,ENST00000361758,;QKI,3_prime_UTR_variant,,ENST00000545607,;QKI,non_coding_transcript_exon_variant,,ENST00000540719,;QKI,upstream_gene_variant,,ENST00000541696,;							MODERATE	551/1026	E184V	QKI_HUMAN			Transcript		benign(0.226)	.	ENSP00000355094		CCDS5285.1			1	
MYL10	0	LGGM	GRCh37	7	101256792	101256792	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	19	17	.	.	ENST00000223167.4:c.644T>A	p.Leu215Gln	p.L215Q	ENST00000223167	NM_138403.4	215	cTg/cAg	0	1	1	UPI00001BBFAD	0	getma.org/pdb.php?prot=MYL10_HUMAN&from=190&to=225&var=L215Q	ENST00000223167		ENSG00000106436	29825		36	3.005		HGNC	p.L215Q		MYL10		SNV							ENST00000223167	protein_coding	getma.org/?cm=var&var=hg19,7,101256792,A,T&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23049,hmmpanther:PTHR23049:SF36,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		L/Q		T	medium	822/1009		getma.org/?cm=msa&ty=f&p=MYL10_HUMAN&rb=190&re=225&var=L215Q	deleterious(0)				YES	MYL10,missense_variant,p.Leu215Gln,ENST00000223167,NM_138403.4;							MODERATE	644/681	L215Q	MYL10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000223167		CCDS34713.1			1	
CCDC38	0	LGGM	GRCh37	12	96272024	96272024	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	17	18	.	.	ENST00000344280.3:c.1243C>G	p.Leu415Val	p.L415V	ENST00000344280	NM_182496.2	415	Ctc/Gtc	0	1	1	UPI00001AEC9B	0	NA	ENST00000344280		ENSG00000165972	26843		35	1.255		HGNC	p.L415V		CCDC38		SNV							ENST00000344280	protein_coding	getma.org/?cm=var&var=hg19,12,96272024,G,C&fts=all		hmmpanther:PTHR21683:SF7,hmmpanther:PTHR21683		L/V		C	low	1801/2277		getma.org/?cm=msa&ty=f&p=CCD38_HUMAN&rb=243&re=442&var=L415V	tolerated(0.07)	F8VY05_HUMAN			YES	CCDC38,missense_variant,p.Leu415Val,ENST00000344280,NM_182496.2;SNRPF,intron_variant,,ENST00000552085,;SNRPF,intron_variant,,ENST00000553192,;CCDC38,missense_variant,p.Leu44Val,ENST00000549876,;							MODERATE	1243/1692	L415V	CCD38_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000345470		CCDS9056.1			1	
COL14A1	0	LGGM	GRCh37	8	121275148	121275148	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	35	18	.	.	ENST00000297848.3:c.2911A>T	p.Arg971Trp	p.R971W	ENST00000297848	NM_021110.2	971	Agg/Tgg	0	1	1	UPI000046D377	0	getma.org/pdb.php?prot=COEA1_HUMAN&from=921&to=998&var=R971W	ENST00000297848		ENSG00000187955	2191		53	1.59		HGNC	p.R784W		COL14A1		SNV			1				ENST00000434620	protein_coding	getma.org/?cm=var&var=hg19,8,121275148,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/W		T	low	3181/6466		getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=921&re=998&var=R971W	deleterious(0.03)				YES	COL14A1,missense_variant,p.Arg971Trp,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg876Trp,ENST00000247781,;COL14A1,missense_variant,p.Arg971Trp,ENST00000309791,;COL14A1,missense_variant,p.Arg784Trp,ENST00000434620,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;							MODERATE	2911/5391	R971W	COEA1_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000297848		CCDS34938.1			1	
STXBP5	0	LGGM	GRCh37	6	147694914	147694914	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	36	18	.	.	ENST00000321680.6:c.3129A>T	p.Pro1043=	p.P1043=	ENST00000321680	NM_001127715.2	1043	ccA/ccT	0	1	1	UPI0000199FE0	0		ENST00000321680		ENSG00000164506	19665		54			HGNC	p.P1043P		STXBP5		SNV							ENST00000321680	protein_coding			hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF22		P		T		3129/3456							YES	STXBP5,synonymous_variant,p.=,ENST00000367481,NM_139244.4;STXBP5,synonymous_variant,p.=,ENST00000179882,;STXBP5,synonymous_variant,p.=,ENST00000321680,NM_001127715.2;STXBP5,synonymous_variant,p.=,ENST00000367480,;							LOW	3129/3456		STXB5_HUMAN			Transcript			.	ENSP00000321826		CCDS47499.1			1	
TCF4	0	LGGM	GRCh37	18	52895477	52895477	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	11	18	.	.	ENST00000398339.1:c.2301G>A	p.Ser767=	p.S767=	ENST00000398339	NM_001243226.1	767	tcG/tcA	0	1		UPI000012DA19	0		ENST00000356073	benign	ENSG00000196628	11634		29			HGNC	p.S531S	rs587781188,COSM3526526,COSM3526527,COSM3526528	TCF4	0.000182	SNV			1			1,1,1,1	ENST00000561992	protein_coding			hmmpanther:PTHR11793,hmmpanther:PTHR11793:SF10		S		T		2595/8317	3.00E-05			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				TCF4,synonymous_variant,p.=,ENST00000354452,NM_001083962.1;TCF4,synonymous_variant,p.=,ENST00000356073,NM_003199.2;TCF4,synonymous_variant,p.=,ENST00000537578,NM_001243227.1;TCF4,synonymous_variant,p.=,ENST00000564403,NM_001243228.1;TCF4,synonymous_variant,p.=,ENST00000568740,;TCF4,synonymous_variant,p.=,ENST00000540999,;TCF4,synonymous_variant,p.=,ENST00000398339,NM_001243226.1;TCF4,synonymous_variant,p.=,ENST00000457482,;TCF4,synonymous_variant,p.=,ENST00000565018,;TCF4,synonymous_variant,p.=,ENST00000568673,;TCF4,synonymous_variant,p.=,ENST00000564999,;TCF4,synonymous_variant,p.=,ENST00000543082,NM_001243231.1;TCF4,synonymous_variant,p.=,ENST00000544241,NM_001243232.1;TCF4,synonymous_variant,p.=,ENST00000561992,NM_001243233.1;TCF4,synonymous_variant,p.=,ENST00000566279,;TCF4,synonymous_variant,p.=,ENST00000566286,NM_001243230.1;TCF4,synonymous_variant,p.=,ENST00000567880,;TCF4,synonymous_variant,p.=,ENST00000537856,;TCF4,synonymous_variant,p.=,ENST00000564228,;TCF4,synonymous_variant,p.=,ENST00000570287,NM_001243235.1,NM_001243234.1;TCF4,synonymous_variant,p.=,ENST00000570177,;TCF4,synonymous_variant,p.=,ENST00000561831,NM_001243236.1;TCF4,non_coding_transcript_exon_variant,,ENST00000562680,;					0,1,1,1		LOW	1983/2004		ITF2_HUMAN			Transcript			.	ENSP00000348374	4.12E-05	CCDS11960.1			1	
MEIOB	0	LGGM	GRCh37	16	1904130	1904130	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	21	18	.	.	ENST00000412554.2:c.600T>C	p.Asp200=	p.D200=	ENST00000412554	NM_001163560.2	200	gaT/gaC	0	1		UPI000059D2EB	0		ENST00000397344		ENSG00000162039	28569		39			HGNC	p.D200D		MEIOB		SNV							ENST00000412554	protein_coding			Gene3D:2.40.50.140,hmmpanther:PTHR21166,hmmpanther:PTHR21166:SF2,Superfamily_domains:SSF50249		D		G		795/1792				H3BSU6_HUMAN				MEIOB,synonymous_variant,p.=,ENST00000412554,NM_001163560.2;MEIOB,synonymous_variant,p.=,ENST00000452149,;MEIOB,synonymous_variant,p.=,ENST00000397344,NM_152764.2;MEIOB,synonymous_variant,p.=,ENST00000325962,;MEIOB,5_prime_UTR_variant,,ENST00000470044,;MEIOB,5_prime_UTR_variant,,ENST00000496541,;MEIOB,downstream_gene_variant,,ENST00000460494,;							LOW	600/1329		MEIOB_HUMAN			Transcript			.	ENSP00000380504		CCDS10449.2			1	
ALG1	0	LGGM	GRCh37	16	5127931	5127931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	31	19	.	.	ENST00000262374.5:c.653C>A	p.Pro218His	p.P218H	ENST00000262374	NM_019109.4	218	cCc/cAc	0	1	1	UPI000003B09B	0	NA	ENST00000262374		ENSG00000033011	18294		50	2.98		HGNC	p.P107H		ALG1		SNV			1				ENST00000591783	protein_coding	getma.org/?cm=var&var=hg19,16,5127931,C,A&fts=all		hmmpanther:PTHR13036,hmmpanther:PTHR13036:SF0,Superfamily_domains:SSF53756		P/H		A	medium	684/1939		getma.org/?cm=msa&ty=f&p=ALG1_HUMAN&rb=201&re=275&var=P218H	deleterious(0)	K7EID2_HUMAN,B4DP08_HUMAN			YES	ALG1,missense_variant,p.Pro107His,ENST00000588623,;ALG1,missense_variant,p.Pro218His,ENST00000262374,NM_019109.4;ALG1,missense_variant,p.Pro107His,ENST00000544428,;ALG1,missense_variant,p.Pro107His,ENST00000591783,;ALG1,downstream_gene_variant,,ENST00000586840,;ALG1,3_prime_UTR_variant,,ENST00000591822,;ALG1,downstream_gene_variant,,ENST00000592793,;RP11-10K17.3,downstream_gene_variant,,ENST00000564330,;							MODERATE	653/1395	P218H	ALG1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000262374		CCDS10528.1			1	
AC079354.1	0	LGGM	GRCh37	2	202970670	202970670	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	12	19	.	.	ENST00000541917.1:c.1511T>A	p.Leu504His	p.L504H	ENST00000541917		504	cTc/cAc	0	1	1	UPI00020659C3	0	NA	ENST00000541917		ENSG00000182329			31	0.695		Clone_based_vega_gene	p.L504H		AC079354.1		SNV							ENST00000541917	protein_coding	getma.org/?cm=var&var=hg19,2,202970670,T,A&fts=all		hmmpanther:PTHR21937		L/H		A	neutral	1884/2889		getma.org/?cm=msa&ty=f&p=E7EP55_HUMAN&rb=546&re=600&var=L560H	deleterious(0.02)	F5H626_HUMAN			YES	AC079354.1,missense_variant,p.Leu560His,ENST00000295844,;AC079354.1,missense_variant,p.Leu504His,ENST00000541917,;AC079354.1,intron_variant,,ENST00000498697,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000459709,;AC079354.1,intron_variant,,ENST00000409515,;							MODERATE	1511/2010	L560H				Transcript		benign(0.341)	.	ENSP00000437957					1	
DCUN1D4	0	LGGM	GRCh37	4	52729851	52729851	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	11	20	.	.	ENST00000334635.5:c.112A>G	p.Ile38Val	p.I38V	ENST00000334635	NM_001040402.1	38	Att/Gtt	0	1	1	UPI00001C1E10	0	NA	ENST00000334635		ENSG00000109184	28998		31	-1.1		HGNC	p.I38V	rs778637100	DCUN1D4		SNV				9.62E-05			ENST00000477560	protein_coding	getma.org/?cm=var&var=hg19,4,52729851,A,G&fts=all				I/V		G	neutral	292/4312		getma.org/?cm=msa&ty=f&p=DCNL4_HUMAN&rb=1&re=172&var=I38V	tolerated_low_confidence(1)	B4DH26_HUMAN			YES	DCUN1D4,missense_variant,p.Ile38Val,ENST00000334635,NM_001040402.1,NM_001287757.1,NM_001287755.1;DCUN1D4,missense_variant,p.Ile38Val,ENST00000381441,NM_015115.2;DCUN1D4,missense_variant,p.Ile82Val,ENST00000451288,;DCUN1D4,missense_variant,p.Ile82Val,ENST00000505403,;DCUN1D4,5_prime_UTR_variant,,ENST00000381437,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000513800,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504113,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000504661,;DCUN1D4,missense_variant,p.Ile38Val,ENST00000477560,;DCUN1D4,missense_variant,p.Ile82Val,ENST00000509068,;DCUN1D4,3_prime_UTR_variant,,ENST00000507741,;DCUN1D4,3_prime_UTR_variant,,ENST00000506673,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000511675,;DCUN1D4,intron_variant,,ENST00000509376,;DCUN1D4,intron_variant,,ENST00000502930,;DUTP7,downstream_gene_variant,,ENST00000507982,;							MODERATE	112/879	I38V	DCNL4_HUMAN			Transcript		benign(0)	.	ENSP00000334625	8.24E-06	CCDS33982.1			1	
RIC8B	0	LGGM	GRCh37	12	107237671	107237671	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	36	20	.	.	ENST00000392839.2:c.1107A>T	p.Leu369Phe	p.L369F	ENST00000392839	NM_018157.2	369	ttA/ttT	0	1	1	UPI00001FB46B	0	NA	ENST00000392839		ENSG00000111785	25555		56	2.31		HGNC	p.L369F		RIC8B		SNV							ENST00000462949	protein_coding	getma.org/?cm=var&var=hg19,12,107237671,A,T&fts=all		Pfam_domain:PF10165,Prints_domain:PR01802,hmmpanther:PTHR12425,hmmpanther:PTHR12425:SF2,Superfamily_domains:SSF48371		L/F		T	medium	1213/2440		getma.org/?cm=msa&ty=f&p=RIC8B_HUMAN&rb=66&re=486&var=L369F	deleterious(0.02)	F8VR30_HUMAN			YES	RIC8B,missense_variant,p.Leu369Phe,ENST00000392837,;RIC8B,missense_variant,p.Leu329Phe,ENST00000355478,;RIC8B,missense_variant,p.Leu369Phe,ENST00000392839,NM_018157.2;RIC8B,missense_variant,p.Leu194Phe,ENST00000548914,;RIC8B,intron_variant,,ENST00000549643,;RIC8B,missense_variant,p.Leu129Phe,ENST00000470960,;RIC8B,missense_variant,p.Leu369Phe,ENST00000462949,;RIC8B,non_coding_transcript_exon_variant,,ENST00000470628,;							MODERATE	1107/1563	L369F	RIC8B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376583		CCDS9109.2			1	
MAP3K19	0	LGGM	GRCh37	2	135781070	135781070	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	35	20	.	.	ENST00000375845.3:c.22+1126A>T		*8*	ENST00000375845	NM_025052.3			0	1	1	UPI00004F77F2	0		ENST00000375845		ENSG00000176601	26249		55			HGNC	p.A10A		MAP3K19		SNV							ENST00000392915	protein_coding							A		-/4377				H7C041_HUMAN,C9JGQ2_HUMAN,C9JEJ9_HUMAN			YES	MAP3K19,synonymous_variant,p.=,ENST00000392915,;MAP3K19,5_prime_UTR_variant,,ENST00000315513,;MAP3K19,intron_variant,,ENST00000375845,NM_025052.3;MAP3K19,intron_variant,,ENST00000358371,NM_001018044.2;MAP3K19,intron_variant,,ENST00000375844,NM_001018046.1;MAP3K19,intron_variant,,ENST00000392918,NM_001018047.2;MAP3K19,intron_variant,,ENST00000392917,NM_001282883.1;MAP3K19,intron_variant,,ENST00000414343,;MAP3K19,upstream_gene_variant,,ENST00000425952,;MAP3K19,intron_variant,,ENST00000468155,;							MODIFIER	-/3987		M3K19_HUMAN			Transcript			.	ENSP00000365005		CCDS2176.2			1	
OR9I1	0	LGGM	GRCh37	11	57886522	57886522	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	23	20	.	.	ENST00000302610.1:c.395A>T	p.Tyr132Phe	p.Y132F	ENST00000302610	NM_001005211.1	132	tAt/tTt	0	1	1	UPI0000041B43	0	NA	ENST00000302610		ENSG00000172377	14718		43	4.295		HGNC	p.Y132F		OR9I1		SNV							ENST00000302610	protein_coding	getma.org/?cm=var&var=hg19,11,57886522,T,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF232,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		Y/F		A	high	395/945		getma.org/?cm=msa&ty=f&p=OR9I1_HUMAN&rb=1&re=138&var=Y132F	deleterious(0)				YES	OR9I1,missense_variant,p.Tyr132Phe,ENST00000302610,NM_001005211.1;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;							MODERATE	395/945	Y132F	OR9I1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000302606		CCDS31542.1			1	
HTT	0	LGGM	GRCh37	4	3231747	3231747	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	5	21	.	.	ENST00000355072.5:c.8243A>T	p.Lys2748Met	p.K2748M	ENST00000355072	NM_002111.6	2748	aAg/aTg	0	1	1	UPI000013D567	0	NA	ENST00000355072		ENSG00000197386	4851		26	2.31		HGNC	p.K2748M		HTT		SNV			1				ENST00000355072	protein_coding	getma.org/?cm=var&var=hg19,4,3231747,A,T&fts=all		hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10,Superfamily_domains:SSF48371		K/M		T	medium	8388/13464		getma.org/?cm=msa&ty=f&p=HD_HUMAN&rb=2634&re=2833&var=K2748M		D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,missense_variant,p.Lys2748Met,ENST00000355072,NM_002111.6;HTT,non_coding_transcript_exon_variant,,ENST00000513806,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;HTT,downstream_gene_variant,,ENST00000512068,;							MODERATE	8243/9429	K2748M	HD_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000347184		CCDS43206.1			1	
OR5AN1	0	LGGM	GRCh37	11	59132451	59132451	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	47	21	.	.	ENST00000313940.2:c.520G>T	p.Val174Phe	p.V174F	ENST00000313940	NM_001004729.1	174	Gtc/Ttc	0	1	1	UPI000004B1FD	0	NA	ENST00000313940		ENSG00000176495	15255		68	2.34		HGNC	p.V174F		OR5AN1		SNV							ENST00000313940	protein_coding	getma.org/?cm=var&var=hg19,11,59132451,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF262,Superfamily_domains:SSF81321		V/F		T	medium	567/1037		getma.org/?cm=msa&ty=f&p=O5AN1_HUMAN&rb=140&re=284&var=V174F	deleterious(0.01)				YES	OR5AN1,missense_variant,p.Val174Phe,ENST00000313940,NM_001004729.1;							MODERATE	520/936	V174F	O5AN1_HUMAN			Transcript		possibly_damaging(0.865)	.	ENSP00000320302		CCDS31559.1			1	
CUBN	0	LGGM	GRCh37	10	16882386	16882386	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	19	23	.	.	ENST00000377833.4:c.9975A>T	p.Leu3325Phe	p.L3325F	ENST00000377833	NM_001081.3	3325	ttA/ttT	0	1	1	UPI00001AE8F4	0	NA	ENST00000377833		ENSG00000107611	2548		42	0.08		HGNC	p.L3325F		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,16882386,T,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		L/F		A	neutral	10041/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=3278&re=3391&var=L3325F	tolerated(1)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Leu3325Phe,ENST00000377833,NM_001081.3;							MODERATE	9975/10872	L3325F	CUBN_HUMAN			Transcript		benign(0.052)	.	ENSP00000367064		CCDS7113.1			1	
RNMT	0	LGGM	GRCh37	18	13752349	13752349	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	17	23	.	.	ENST00000383314.2:c.1282A>T	p.Lys428Ter	p.K428*	ENST00000383314		428	Aaa/Taa	0	1		UPI000006F958	0	NA	ENST00000262173		ENSG00000101654	10075		40	0		HGNC	p.K428X		RNMT		SNV							ENST00000589866	protein_coding	getma.org/?cm=var&var=hg19,18,13752349,A,T&fts=all		PROSITE_profiles:PS51562,hmmpanther:PTHR12189,Pfam_domain:PF03291,PIRSF_domain:PIRSF028762		K/*		T	NA	1326/6051		NA		Q9UEB8_HUMAN,K7EPP5_HUMAN,K7EP06_HUMAN,F5H2D9_HUMAN				RNMT,stop_gained,p.Lys428Ter,ENST00000383314,;RNMT,stop_gained,p.Lys428Ter,ENST00000262173,;RNMT,stop_gained,p.Lys428Ter,ENST00000592764,NM_003799.1;RNMT,stop_gained,p.Lys428Ter,ENST00000589866,;RNMT,stop_gained,p.Lys428Ter,ENST00000543302,;RNMT,stop_gained,p.Lys186Ter,ENST00000535051,;RNMT,stop_gained,p.Lys38Ter,ENST00000593007,;RNMT,stop_gained,p.Lys250Ter,ENST00000588457,;							HIGH	1282/1431	K428*	MCES_HUMAN			Transcript			.	ENSP00000262173		CCDS11867.1			1	
CCDC127	0	LGGM	GRCh37	5	205706	205706	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	40	23	.	.	ENST00000296824.3:c.489A>T	p.Glu163Asp	p.E163D	ENST00000296824	NM_145265.2	163	gaA/gaT	0	1	1	UPI0000071C29	0	NA	ENST00000296824		ENSG00000164366	30520		63	2.42		HGNC	p.E163D		CCDC127		SNV							ENST00000296824	protein_coding	getma.org/?cm=var&var=hg19,5,205706,T,A&fts=all		hmmpanther:PTHR31958		E/D		A	medium	622/9342		getma.org/?cm=msa&ty=f&p=CC127_HUMAN&rb=151&re=258&var=E163D	deleterious(0.01)	D6R9R2_HUMAN			YES	CCDC127,missense_variant,p.Glu163Asp,ENST00000296824,NM_145265.2;CCDC127,downstream_gene_variant,,ENST00000441693,;							MODERATE	489/783	E163D	CC127_HUMAN			Transcript		possibly_damaging(0.498)	.	ENSP00000296824		CCDS3852.1			1	
SSUH2	0	LGGM	GRCh37	3	8668008	8668008	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	16	24	.	.	ENST00000544814.1:c.675-1G>T		p.X225_splice	ENST00000544814	NM_001256748.1			0	1		UPI000006F08D	0		ENST00000317371		ENSG00000125046	24809		40			HGNC	-		SSUH2		SNV							ENST00000341795	protein_coding							A		-/2561								SSUH2,splice_acceptor_variant,,ENST00000317371,;SSUH2,splice_acceptor_variant,,ENST00000341795,NM_015931.2,NM_001256749.1;SSUH2,splice_acceptor_variant,,ENST00000415132,;SSUH2,splice_acceptor_variant,,ENST00000544814,NM_001256748.1;SSUH2,downstream_gene_variant,,ENST00000427408,;SSUH2,downstream_gene_variant,,ENST00000492435,;SSUH2,splice_acceptor_variant,,ENST00000455157,;SSUH2,splice_acceptor_variant,,ENST00000435138,;SSUH2,splice_acceptor_variant,,ENST00000495366,;SSUH2,splice_acceptor_variant,,ENST00000413305,;SSUH2,splice_acceptor_variant,,ENST00000420394,;							HIGH	609/1062		SSUH2_HUMAN			Transcript			.	ENSP00000324551		CCDS2568.1			1	
COQ7	0	LGGM	GRCh37	16	19087159	19087159	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	30	25	.	.	ENST00000321998.5:c.484G>T	p.Glu162Ter	p.E162*	ENST00000321998	NM_016138.4	162	Gaa/Taa	0	1	1	UPI000006D56A	0	NA	ENST00000321998		ENSG00000167186	2244		55	0		HGNC	p.E124X		COQ7		SNV							ENST00000544894	protein_coding	getma.org/?cm=var&var=hg19,16,19087159,G,T&fts=all		hmmpanther:PTHR11237,Gene3D:1.20.1260.10,Pfam_domain:PF03232,Superfamily_domains:SSF47240		E/*		T	NA	550/2657		NA		H3BTN8_HUMAN,H3BSZ3_HUMAN			YES	COQ7,stop_gained,p.Glu162Ter,ENST00000321998,NM_016138.4;COQ7,stop_gained,p.Glu139Ter,ENST00000569127,;COQ7,stop_gained,p.Glu124Ter,ENST00000544894,NM_001190983.1;COQ7,stop_gained,p.Glu124Ter,ENST00000561858,;COQ7,stop_gained,p.Glu162Ter,ENST00000568985,;COQ7,downstream_gene_variant,,ENST00000566110,;COQ7,upstream_gene_variant,,ENST00000567314,;COQ7,upstream_gene_variant,,ENST00000569259,;COQ7,3_prime_UTR_variant,,ENST00000569312,;COQ7,3_prime_UTR_variant,,ENST00000566049,;COQ7,downstream_gene_variant,,ENST00000564746,;							HIGH	484/654	E162*	COQ7_HUMAN			Transcript			.	ENSP00000322316		CCDS10574.1			1	
SYNE1	0	LGGM	GRCh37	6	152702342	152702342	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	29	25	.	.	ENST00000367255.5:c.8808T>A	p.Ser2936Arg	p.S2936R	ENST00000367255	NM_182961.3	2936	agT/agA	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		54	1.24		HGNC	p.S2943R		SYNE1		SNV			1				ENST00000423061	protein_coding	getma.org/?cm=var&var=hg19,6,152702342,A,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966		S/R		T	low	9410/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=2884&re=3083&var=S2936R					YES	SYNE1,missense_variant,p.Ser2936Arg,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ser2936Arg,ENST00000265368,;SYNE1,missense_variant,p.Ser2943Arg,ENST00000448038,;SYNE1,missense_variant,p.Ser2943Arg,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ser2975Arg,ENST00000341594,;SYNE1,missense_variant,p.Ser53Arg,ENST00000454018,;SYNE1-AS1,non_coding_transcript_exon_variant,,ENST00000412161,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;							MODERATE	8808/26394	S2936R	SYNE1_HUMAN			Transcript		benign(0.282)	.	ENSP00000356224		CCDS5236.2			1	
DMXL2	0	LGGM	GRCh37	15	51780780	51780780	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	37	26	.	.	ENST00000543779.2:c.5016A>T	p.Ser1672=	p.S1672=	ENST00000543779		1672	tcA/tcT	0	1		UPI000013CCDD	0		ENST00000251076		ENSG00000104093	2938		63			HGNC	p.S1036S		DMXL2		SNV							ENST00000449909	protein_coding			hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11,Pfam_domain:PF12234		S		A		5304/10672								DMXL2,synonymous_variant,p.=,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,synonymous_variant,p.=,ENST00000543779,;DMXL2,synonymous_variant,p.=,ENST00000449909,NM_001174117.1;RP11-707P17.1,intron_variant,,ENST00000561007,;							LOW	5016/9111		DMXL2_HUMAN			Transcript			.	ENSP00000251076		CCDS10141.1			1	
ADAM17	0	LGGM	GRCh37	2	9634876	9634876	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	28	27	.	.	ENST00000310823.3:c.1804G>T	p.Val602Leu	p.V602L	ENST00000310823	NM_003183.4	602	Gtg/Ttg	0	1	1	UPI00001254D4	0	NA	ENST00000310823		ENSG00000151694	195		55	1.575		HGNC	p.V602L		ADAM17		SNV			1				ENST00000310823	protein_coding	getma.org/?cm=var&var=hg19,2,9634876,C,A&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121		V/L		A	low	1987/4349		getma.org/?cm=msa&ty=f&p=ADA17_HUMAN&rb=562&re=761&var=V602L	tolerated(0.18)	Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN			YES	ADAM17,missense_variant,p.Val602Leu,ENST00000310823,NM_003183.4;IAH1,3_prime_UTR_variant,,ENST00000545602,;IAH1,3_prime_UTR_variant,,ENST00000481367,;							MODERATE	1804/2475	V602L	ADA17_HUMAN			Transcript		benign(0.196)	.	ENSP00000309968		CCDS1665.1			1	
PRMT2	0	LGGM	GRCh37	21	48064390	48064390	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	24	27	.	.	ENST00000397637.1:c.317A>T	p.Tyr106Phe	p.Y106F	ENST00000397637		106	tAt/tTt	0	1		UPI0000125B21	0	NA	ENST00000355680		ENSG00000160310	5186		51	1.845		HGNC	p.Y106F		PRMT2		SNV							ENST00000397638	protein_coding	getma.org/?cm=var&var=hg19,21,48064390,A,T&fts=all		Gene3D:3.40.50.150,PROSITE_profiles:PS51678,hmmpanther:PTHR11006,hmmpanther:PTHR11006:SF52,Superfamily_domains:SSF53335		Y/F		T	low	1079/2688		getma.org/?cm=msa&ty=f&p=ANM2_HUMAN&rb=82&re=113&var=Y106F	deleterious(0)	Q5U7D4_HUMAN				PRMT2,missense_variant,p.Tyr106Phe,ENST00000397637,;PRMT2,missense_variant,p.Tyr106Phe,ENST00000355680,NM_206962.2;PRMT2,missense_variant,p.Tyr106Phe,ENST00000397638,NM_001535.3;PRMT2,missense_variant,p.Tyr106Phe,ENST00000440086,NM_001242864.1;PRMT2,missense_variant,p.Tyr106Phe,ENST00000451211,NM_001286677.1;PRMT2,missense_variant,p.Tyr106Phe,ENST00000458387,NM_001286676.1;PRMT2,missense_variant,p.Tyr106Phe,ENST00000291705,NM_001286678.1;PRMT2,missense_variant,p.Tyr106Phe,ENST00000334494,NM_001242865.1;PRMT2,missense_variant,p.Tyr106Phe,ENST00000397628,;PRMT2,missense_variant,p.Tyr46Phe,ENST00000455177,;PRMT2,upstream_gene_variant,,ENST00000491389,;PRMT2,upstream_gene_variant,,ENST00000498151,;PRMT2,non_coding_transcript_exon_variant,,ENST00000482508,;PRMT2,non_coding_transcript_exon_variant,,ENST00000481861,;							MODERATE	317/1302	Y106F	ANM2_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000347906		CCDS13737.1			1	
HNRNPR	0	LGGM	GRCh37	1	23637369	23637369	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	51	27	.	.	ENST00000374616.3:c.1489G>T	p.Asp497Tyr	p.D497Y	ENST00000374616		497	Gat/Tat	0	1		UPI000013454C	0	NA	ENST00000302271		ENSG00000125944	5047		78	1.48		HGNC	p.D494Y		HNRNPR		SNV							ENST00000302271	protein_coding	getma.org/?cm=var&var=hg19,1,23637369,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24011:SF131,hmmpanther:PTHR24011,TIGRFAM_domain:TIGR01648		D/Y		A	low	1541/2629		getma.org/?cm=msa&ty=f&p=HNRPR_HUMAN&rb=406&re=605&var=D494Y	deleterious(0)	Q7Z334_HUMAN				HNRNPR,missense_variant,p.Asp396Tyr,ENST00000478691,NM_001102399.1,NM_001102397.1;HNRNPR,missense_variant,p.Asp494Tyr,ENST00000374612,NM_005826.3,NM_001102398.1;HNRNPR,missense_variant,p.Asp497Tyr,ENST00000374616,;HNRNPR,missense_variant,p.Asp494Tyr,ENST00000302271,;HNRNPR,missense_variant,p.Asp456Tyr,ENST00000427764,;HNRNPR,missense_variant,p.Asp355Tyr,ENST00000606561,;HNRNPR,missense_variant,p.Asp334Tyr,ENST00000426846,;HNRNPR,non_coding_transcript_exon_variant,,ENST00000476660,;HNRNPR,downstream_gene_variant,,ENST00000463552,;HNRNPR,downstream_gene_variant,,ENST00000470941,;HNRNPR,upstream_gene_variant,,ENST00000464516,;							MODERATE	1480/1902	D494Y	HNRPR_HUMAN			Transcript		unknown(0)	.	ENSP00000304405		CCDS232.1			1	
PCDHB6	0	LGGM	GRCh37	5	140531933	140531933	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	8	29	.	.	ENST00000231136.1:c.2095T>A	p.Phe699Ile	p.F699I	ENST00000231136	NM_018939.2	699	Ttc/Atc	0	1	1	UPI00001273E2	0	NA	ENST00000231136		ENSG00000113211	8691		37	3.655		HGNC	p.F563I		PCDHB6		SNV							ENST00000543635	protein_coding	getma.org/?cm=var&var=hg19,5,140531933,T,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		F/I		A	high	2095/3030		getma.org/?cm=msa&ty=f&p=PCDB6_HUMAN&rb=662&re=794&var=F699I	deleterious(0)	F5H446_HUMAN			YES	PCDHB6,missense_variant,p.Phe699Ile,ENST00000231136,NM_018939.2;PCDHB6,missense_variant,p.Phe563Ile,ENST00000543635,;PCDHB17,upstream_gene_variant,,ENST00000539533,;							MODERATE	2095/2385	F699I	PCDB6_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000231136		CCDS4248.1			1	
CLHC1	0	LGGM	GRCh37	2	55435821	55435821	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	52	30	.	.	ENST00000401408.1:c.840A>T	p.Leu280=	p.L280=	ENST00000401408	NM_152385.2	280	ctA/ctT	0	1	1	UPI00004DEC65	0		ENST00000401408		ENSG00000162994	26453		82			HGNC	p.L158L		CLHC1		SNV							ENST00000406076	protein_coding			Gene3D:1bpoA02,PIRSF_domain:PIRSF037469,hmmpanther:PTHR10292		L		A		1186/2248				E7EVC5_HUMAN,D6W5C8_HUMAN,B5MC48_HUMAN			YES	CLHC1,synonymous_variant,p.=,ENST00000401408,NM_152385.2;CLHC1,synonymous_variant,p.=,ENST00000407122,;CLHC1,synonymous_variant,p.=,ENST00000406076,NM_001135598.1;CLHC1,intron_variant,,ENST00000406437,;CLHC1,intron_variant,,ENST00000494539,;CLHC1,intron_variant,,ENST00000487320,;CLHC1,intron_variant,,ENST00000466020,;CLHC1,intron_variant,,ENST00000428621,;CLHC1,intron_variant,,ENST00000411884,;							LOW	840/1761		CLHC1_HUMAN			Transcript			.	ENSP00000384869		CCDS33201.1			1	
DOCK2	0	LGGM	GRCh37	5	169494518	169494518	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	14	30	.	.	ENST00000256935.8:c.4472C>T	p.Thr1491Ile	p.T1491I	ENST00000256935	NM_004946.2	1491	aCa/aTa	0	1	1	UPI00001A38CC	0	getma.org/pdb.php?prot=DOCK2_HUMAN&from=1431&to=1615&var=T1491I	ENST00000256935		ENSG00000134516	2988		44	1.5		HGNC	p.T1491I		DOCK2		SNV							ENST00000256935	protein_coding	getma.org/?cm=var&var=hg19,5,169494518,C,T&fts=all		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF06920		T/I		T	low	4552/6097		getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=1431&re=1615&var=T1491I	tolerated(0.12)	Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,missense_variant,p.Thr1491Ile,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Thr983Ile,ENST00000520908,;DOCK2,missense_variant,p.Thr552Ile,ENST00000540750,;DOCK2,non_coding_transcript_exon_variant,,ENST00000523351,;DOCK2,3_prime_UTR_variant,,ENST00000524185,;DOCK2,non_coding_transcript_exon_variant,,ENST00000520450,;							MODERATE	4472/5493	T1491I	DOCK2_HUMAN			Transcript		benign(0.039)	.	ENSP00000256935		CCDS4371.1			1	
GLP1R	0	LGGM	GRCh37	6	39053725	39053725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	50	30	.	.	ENST00000373256.4:c.1268A>G	p.Glu423Gly	p.E423G	ENST00000373256	NM_002062.3	423	gAg/gGg	0	1	1	UPI0000061F20	0	NA	ENST00000373256		ENSG00000112164	4324		80	0.845		HGNC	p.E423G		GLP1R		SNV							ENST00000373256	protein_coding	getma.org/?cm=var&var=hg19,6,39053725,A,G&fts=all		Prints_domain:PR01355,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,Superfamily_domains:SSF81321		E/G		G	low	1311/3105		getma.org/?cm=msa&ty=f&p=GLP1R_HUMAN&rb=399&re=463&var=E423G	tolerated(0.22)				YES	GLP1R,missense_variant,p.Glu423Gly,ENST00000373256,NM_002062.3;							MODERATE	1268/1392	E423G	GLP1R_HUMAN			Transcript		possibly_damaging(0.543)	.	ENSP00000362353		CCDS4839.1			1	
AGR3	0	LGGM	GRCh37	7	16918132	16918132	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	45	32	.	.	ENST00000310398.2:c.109+2T>A		p.X37_splice	ENST00000310398	NM_176813.3			0	1	1	UPI0000040D21	0		ENST00000310398		ENSG00000173467	24167		77			HGNC	-		AGR3		SNV							ENST00000310398	protein_coding							T		-/749							YES	AGR3,splice_donor_variant,,ENST00000310398,NM_176813.3;AGR3,splice_donor_variant,,ENST00000402239,;AGR3,intron_variant,,ENST00000414935,;AGR3,splice_donor_variant,,ENST00000486448,;							HIGH	109/501		AGR3_HUMAN			Transcript			.	ENSP00000308606		CCDS5365.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73171702	73171702	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	12	32	.	.	ENST00000286657.4:c.2260+2T>A		p.X754_splice	ENST00000286657	NM_014243.2			0	1	1	UPI00001AEAEA	0		ENST00000286657		ENSG00000156140	219		44			HGNC	-		ADAMTS3		SNV							ENST00000286657	protein_coding							T		-/5822				Q96AY5_HUMAN			YES	ADAMTS3,splice_donor_variant,,ENST00000286657,NM_014243.2;ADAMTS3,splice_donor_variant,,ENST00000511274,;							HIGH	2260/3618		ATS3_HUMAN			Transcript			.	ENSP00000286657		CCDS3553.1			1	
MMP19	0	LGGM	GRCh37	12	56230825	56230825	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	44	34	.	.	ENST00000322569.4:c.1522T>C	p.Tyr508His	p.Y508H	ENST00000322569	NM_002429.5	508	Tac/Cac	0	1	1	UPI0000030AE6	0	NA	ENST00000322569		ENSG00000123342	7165		78	0		HGNC	p.Y485H		MMP19		SNV							ENST00000548629	protein_coding	getma.org/?cm=var&var=hg19,12,56230825,A,G&fts=all				Y/H		G	neutral	1614/2229		getma.org/?cm=msa&ty=f&p=MMP19_HUMAN&rb=473&re=508&var=Y508H	deleterious_low_confidence(0)				YES	MMP19,missense_variant,p.Tyr222His,ENST00000394182,;MMP19,missense_variant,p.Tyr508His,ENST00000322569,NM_002429.5;MMP19,missense_variant,p.Tyr485His,ENST00000548629,;MMP19,3_prime_UTR_variant,,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,;							MODERATE	1522/1527	Y508H	MMP19_HUMAN			Transcript		unknown(0)	.	ENSP00000313437		CCDS8895.1			1	
PRMT5	0	LGGM	GRCh37	14	23395351	23395351	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	53	34	.	.	ENST00000324366.8:c.768G>A	p.Arg256=	p.R256=	ENST00000324366	NM_006109.3	256	cgG/cgA	0	1	1	UPI000006F09F	0		ENST00000324366		ENSG00000100462	10894		87			HGNC	p.R151R		PRMT5		SNV							ENST00000555530	protein_coding			PIRSF_domain:PIRSF015894,Pfam_domain:PF05185,hmmpanther:PTHR10738		R		T		992/2531				G3V5T6_HUMAN,G3V5L5_HUMAN,B4DV00_HUMAN			YES	PRMT5,synonymous_variant,p.=,ENST00000324366,NM_006109.3;PRMT5,synonymous_variant,p.=,ENST00000397441,NM_001039619.1;PRMT5,synonymous_variant,p.=,ENST00000216350,NM_001282953.1;PRMT5,synonymous_variant,p.=,ENST00000538452,;PRMT5,synonymous_variant,p.=,ENST00000553897,NM_001282955.1;PRMT5,synonymous_variant,p.=,ENST00000555530,;PRMT5,synonymous_variant,p.=,ENST00000556043,;PRMT5,intron_variant,,ENST00000397440,NM_001282956.1;PRMT5,intron_variant,,ENST00000553550,;PRMT5,upstream_gene_variant,,ENST00000555454,;PRMT5,upstream_gene_variant,,ENST00000454731,;PRMT5,downstream_gene_variant,,ENST00000554910,;PRMT5,downstream_gene_variant,,ENST00000556616,;PRMT5,downstream_gene_variant,,ENST00000421938,;PRMT5,downstream_gene_variant,,ENST00000554867,;PRMT5,upstream_gene_variant,,ENST00000553502,;PRMT5,upstream_gene_variant,,ENST00000557443,;PRMT5-AS1,intron_variant,,ENST00000599580,;PRMT5-AS1,intron_variant,,ENST00000587245,;PRMT5-AS1,intron_variant,,ENST00000590290,;PRMT5-AS1,intron_variant,,ENST00000595662,;PRMT5-AS1,downstream_gene_variant,,ENST00000424245,;PRMT5-AS1,downstream_gene_variant,,ENST00000609885,;PRMT5-AS1,downstream_gene_variant,,ENST00000457443,;RP11-298I3.1,upstream_gene_variant,,ENST00000548322,;RP11-298I3.1,upstream_gene_variant,,ENST00000548819,;PRMT5,non_coding_transcript_exon_variant,,ENST00000553641,;PRMT5,intron_variant,,ENST00000554716,;PRMT5,upstream_gene_variant,,ENST00000476175,;PRMT5,downstream_gene_variant,,ENST00000556426,;PRMT5,3_prime_UTR_variant,,ENST00000553915,;PRMT5,3_prime_UTR_variant,,ENST00000553787,;PRMT5,downstream_gene_variant,,ENST00000556032,;PRMT5,downstream_gene_variant,,ENST00000557015,;PRMT5,upstream_gene_variant,,ENST00000557758,;PRMT5,downstream_gene_variant,,ENST00000557415,;PRMT5,downstream_gene_variant,,ENST00000553417,;							LOW	768/1914		ANM5_HUMAN			Transcript			.	ENSP00000319169		CCDS9579.1			1	
SMARCA5	0	LGGM	GRCh37	4	144447592	144447592	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	46	35	.	.	ENST00000283131.3:c.780G>A	p.Leu260=	p.L260=	ENST00000283131	NM_003601.3	260	ttG/ttA	0	1	1	UPI000006E693	0		ENST00000283131		ENSG00000153147	11101		81			HGNC	p.L260L		SMARCA5		SNV			1				ENST00000283131	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF575,SMART_domains:SM00487,Superfamily_domains:SSF52540		L		A		1242/7923				Q4W5H1_HUMAN,Q4W5G3_HUMAN			YES	SMARCA5,synonymous_variant,p.=,ENST00000283131,NM_003601.3;							LOW	780/3159		SMCA5_HUMAN			Transcript			.	ENSP00000283131		CCDS3761.1			1	
ITSN2	0	LGGM	GRCh37	2	24526718	24526718	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	48	35	.	.	ENST00000355123.4:c.807A>T	p.Arg269Ser	p.R269S	ENST00000355123	NM_006277.2	269	agA/agT	0	1	1	UPI000013D415	0	getma.org/pdb.php?prot=ITSN2_HUMAN&from=241&to=333&var=R269S	ENST00000355123		ENSG00000198399	6184		83	2.34		HGNC	p.R269S		ITSN2		SNV							ENST00000355123	protein_coding	getma.org/?cm=var&var=hg19,2,24526718,T,A&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF12763,PROSITE_profiles:PS50031,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29,SMART_domains:SM00027,Superfamily_domains:SSF47473		R/S		A	medium	1251/6300		getma.org/?cm=msa&ty=f&p=ITSN2_HUMAN&rb=241&re=333&var=R269S	deleterious(0.01)	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN			YES	ITSN2,missense_variant,p.Arg269Ser,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Arg269Ser,ENST00000361999,NM_019595.3;ITSN2,missense_variant,p.Arg269Ser,ENST00000406921,NM_147152.2;ITSN2,missense_variant,p.Arg294Ser,ENST00000412011,;							MODERATE	807/5094	R269S	ITSN2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000347244		CCDS1710.2			1	
SULF1	0	LGGM	GRCh37	8	70541797	70541797	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	47	37	.	.	ENST00000260128.4:c.2167A>T	p.Arg723Trp	p.R723W	ENST00000260128	NM_015170.2	723	Agg/Tgg	0	1	1	UPI000003FD82	0	NA	ENST00000260128		ENSG00000137573	20391		84	2.14		HGNC	p.R723W		SULF1		SNV							ENST00000458141	protein_coding	getma.org/?cm=var&var=hg19,8,70541797,A,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,PIRSF_domain:PIRSF036665		R/W		T	medium	2884/5710		getma.org/?cm=msa&ty=f&p=SULF1_HUMAN&rb=681&re=871&var=R723W	deleterious(0)	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN			YES	SULF1,missense_variant,p.Arg723Trp,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Arg723Trp,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Arg723Trp,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Arg723Trp,ENST00000419716,NM_001128206.1;SULF1,non_coding_transcript_exon_variant,,ENST00000521946,;SULF1,non_coding_transcript_exon_variant,,ENST00000524731,;SULF1,missense_variant,p.Arg64Trp,ENST00000531512,;							MODERATE	2167/2616	R723W	SULF1_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000260128		CCDS6204.1			1	
FAM171B	0	LGGM	GRCh37	2	187626379	187626379	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	52	37	.	.	ENST00000304698.5:c.1310C>T	p.Pro437Leu	p.P437L	ENST00000304698	NM_177454.3	437	cCt/cTt	0	1	1	UPI0000161631	0	NA	ENST00000304698		ENSG00000144369	29412		89	1.245		HGNC	p.P437L	COSM3575202	FAM171B		SNV						1	ENST00000304698	protein_coding	getma.org/?cm=var&var=hg19,2,187626379,C,T&fts=all		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF2		P/L		T	low	1513/5819		getma.org/?cm=msa&ty=f&p=F171B_HUMAN&rb=415&re=826&var=P437L	tolerated(0.14)	A8K122_HUMAN			YES	FAM171B,missense_variant,p.Pro437Leu,ENST00000304698,NM_177454.3;					1		MODERATE	1310/2481	P437L	F171B_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000304108		CCDS33347.1			1	
DOPEY2	0	LGGM	GRCh37	21	37618287	37618287	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	57	37	.	.	ENST00000399151.3:c.4009G>A	p.Asp1337Asn	p.D1337N	ENST00000399151	NM_005128.2	1337	Gac/Aac	0	1	1	UPI000013D876	0	NA	ENST00000399151		ENSG00000142197	1291		94	2.62		HGNC	p.D1337N		DOPEY2		SNV							ENST00000399151	protein_coding	getma.org/?cm=var&var=hg19,21,37618287,G,A&fts=all		hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042		D/N		A	medium	4094/7685		getma.org/?cm=msa&ty=f&p=DOP2_HUMAN&rb=1218&re=2296&var=D1337N	deleterious(0)	F8W8U9_HUMAN			YES	DOPEY2,missense_variant,p.Asp1337Asn,ENST00000399151,NM_005128.2;DOPEY2,upstream_gene_variant,,ENST00000463668,;							MODERATE	4009/6897	D1337N	DOP2_HUMAN			Transcript		probably_damaging(0.91)	.	ENSP00000382104		CCDS13643.1			1	
DHCR24	0	LGGM	GRCh37	1	55349292	55349292	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	55	38	.	.	ENST00000371269.3:c.386A>T	p.Gln129Leu	p.Q129L	ENST00000371269	NM_014762.3	129	cAg/cTg	0	1	1	UPI00000335D4	0	getma.org/pdb.php?prot=DHC24_HUMAN&from=72&to=203&var=Q129L	ENST00000371269		ENSG00000116133	2859		93	1.095		HGNC	p.Q88L		DHCR24		SNV			1				ENST00000535035	protein_coding	getma.org/?cm=var&var=hg19,1,55349292,T,A&fts=all		Gene3D:3.30.465.10,Pfam_domain:PF01565,PROSITE_profiles:PS51387,hmmpanther:PTHR10801,hmmpanther:PTHR10801:SF0,Superfamily_domains:SSF56176		Q/L		A	low	485/4250		getma.org/?cm=msa&ty=f&p=DHC24_HUMAN&rb=72&re=203&var=Q129L	tolerated(0.07)	Q3LIE7_HUMAN,B7Z546_HUMAN			YES	DHCR24,missense_variant,p.Gln129Leu,ENST00000371269,NM_014762.3;DHCR24,missense_variant,p.Gln88Leu,ENST00000535035,;RP11-67L3.5,upstream_gene_variant,,ENST00000415336,;RP11-67L3.4,upstream_gene_variant,,ENST00000455380,;RP11-67L3.4,upstream_gene_variant,,ENST00000443284,;RP11-67L3.4,upstream_gene_variant,,ENST00000436033,;RP11-67L3.4,upstream_gene_variant,,ENST00000433690,;							MODERATE	386/1551	Q129L	DHC24_HUMAN			Transcript		benign(0.213)	.	ENSP00000360316		CCDS600.1			1	
NF1	0	LGGM	GRCh37	17	29556899	29556899	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	57	38	.	.	ENST00000358273.4:c.2897C>G	p.Ala966Gly	p.A966G	ENST00000358273	NM_001042492.2	966	gCt/gGt	0	1	1	UPI000012FFAE	0	NA	ENST00000358273		ENSG00000196712	7765		95	0.84		HGNC	p.A1000G		NF1		SNV			1				ENST00000579081	protein_coding	getma.org/?cm=var&var=hg19,17,29556899,C,G&fts=all		hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		A/G		G	low	3280/12425		getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=801&re=1000&var=A966G	tolerated(0.34)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	NF1,missense_variant,p.Ala966Gly,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Ala966Gly,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Ala632Gly,ENST00000456735,;NF1,missense_variant,p.Ala1000Gly,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;NF1,upstream_gene_variant,,ENST00000466819,;NF1,upstream_gene_variant,,ENST00000479614,;							MODERATE	2897/8520	A966G	NF1_HUMAN			Transcript		benign(0.061)	.	ENSP00000351015		CCDS42292.1			1	
MAP4K3	0	LGGM	GRCh37	2	39499514	39499514	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	42	38	.	.	ENST00000263881.3:c.1883A>G	p.Asn628Ser	p.N628S	ENST00000263881	NM_003618.3	628	aAt/aGt	0	1	1	UPI00000747E6	0	NA	ENST00000263881		ENSG00000011566	6865		80	0.88		HGNC	p.N544S		MAP4K3		SNV							ENST00000437545	protein_coding	getma.org/?cm=var&var=hg19,2,39499514,T,C&fts=all		PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,Pfam_domain:PF00780,SMART_domains:SM00036,PIRSF_domain:PIRSF038172		N/S		C	low	2208/4362		getma.org/?cm=msa&ty=f&p=M4K3_HUMAN&rb=566&re=864&var=N628S	tolerated(0.49)	Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN			YES	MAP4K3,missense_variant,p.Asn628Ser,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Asn607Ser,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Asn544Ser,ENST00000437545,;MAP4K3,missense_variant,p.Asn181Ser,ENST00000536018,;MAP4K3,non_coding_transcript_exon_variant,,ENST00000495648,;MAP4K3,upstream_gene_variant,,ENST00000475457,;							MODERATE	1883/2685	N628S	M4K3_HUMAN			Transcript		benign(0.054)	.	ENSP00000263881		CCDS1803.1			1	
POLQ	0	LGGM	GRCh37	3	121255979	121255979	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	36	38	.	.	ENST00000264233.5:c.708G>C	p.Lys236Asn	p.K236N	ENST00000264233	NM_199420.3	236	aaG/aaC	0	1	1	UPI0000D61B5F	0	getma.org/pdb.php?prot=DPOLQ_HUMAN&from=93&to=274&var=K236N	ENST00000264233		ENSG00000051341	9186		74	3.72		HGNC	p.K236N		POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121255979,C,G&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF48,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487,Superfamily_domains:SSF52540		K/N		G	high	837/8775		getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=93&re=274&var=K236N	deleterious(0)				YES	POLQ,missense_variant,p.Lys236Asn,ENST00000264233,NM_199420.3;POLQ,upstream_gene_variant,,ENST00000488282,;							MODERATE	708/7773	K236N	DPOLQ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264233		CCDS33833.1			1	
SGTB	0	LGGM	GRCh37	5	64976531	64976531	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	15	39	.	.	ENST00000381007.4:c.570G>A	p.Lys190=	p.K190=	ENST00000381007	NM_019072.2	190	aaG/aaA	0	1	1	UPI000004D24F	0		ENST00000381007		ENSG00000197860	23567		54			HGNC	p.K190K		SGTB		SNV							ENST00000506816	protein_coding			Gene3D:1.25.40.10,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF290,Superfamily_domains:SSF48452		K		T		806/5469				O75589_HUMAN,D6RFW1_HUMAN			YES	SGTB,synonymous_variant,p.=,ENST00000381007,NM_019072.2;SGTB,synonymous_variant,p.=,ENST00000506816,;							LOW	570/915		SGTB_HUMAN			Transcript			.	ENSP00000370395		CCDS3988.1			1	
SERGEF	0	LGGM	GRCh37	11	18028204	18028204	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	52	39	.	.	ENST00000265965.5:c.286A>T	p.Lys96Ter	p.K96*	ENST00000265965	NM_012139.2	96	Aaa/Taa	0	1	1	UPI000007326C	0	NA	ENST00000265965		ENSG00000129158	17499		91	0		HGNC	p.K96X		SERGEF		SNV							ENST00000528200	protein_coding	getma.org/?cm=var&var=hg19,11,18028204,T,A&fts=all		Gene3D:2.130.10.30,PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF7,Superfamily_domains:SSF50985		K/*		A	NA	438/1566		NA		E9PS70_HUMAN,E9PR50_HUMAN			YES	SERGEF,stop_gained,p.Lys96Ter,ENST00000265965,NM_012139.2;SERGEF,stop_gained,p.Lys96Ter,ENST00000528200,;SERGEF,5_prime_UTR_variant,,ENST00000529728,;SERGEF,5_prime_UTR_variant,,ENST00000532265,;SERGEF,5_prime_UTR_variant,,ENST00000530613,;SERGEF,5_prime_UTR_variant,,ENST00000532389,;SERGEF,upstream_gene_variant,,ENST00000525920,;RP1-59M18.2,non_coding_transcript_exon_variant,,ENST00000525523,;SERGEF,non_coding_transcript_exon_variant,,ENST00000532212,;SERGEF,downstream_gene_variant,,ENST00000530951,;SERGEF,stop_gained,p.Lys96Ter,ENST00000525422,;SERGEF,5_prime_UTR_variant,,ENST00000527494,;SERGEF,5_prime_UTR_variant,,ENST00000530925,;SERGEF,3_prime_UTR_variant,,ENST00000524716,;SERGEF,3_prime_UTR_variant,,ENST00000533328,;							HIGH	286/1377	K96*	SRGEF_HUMAN			Transcript			.	ENSP00000265965		CCDS7828.1			1	
MDM4	0	LGGM	GRCh37	1	204518698	204518698	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	38	40	.	.	ENST00000367182.3:c.1361C>T	p.Thr454Met	p.T454M	ENST00000367182	NM_001278516.1	454	aCg/aTg	0	1	1	UPI000007467F	0	getma.org/pdb.php?prot=MDM4_HUMAN&from=433&to=484&var=T454M	ENST00000367182		ENSG00000198625	6974		78	2.34		HGNC	p.T454M		MDM4		SNV							ENST00000367182	protein_coding	getma.org/?cm=var&var=hg19,1,204518698,C,T&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13920,PIRSF_domain:PIRSF006748,PIRSF_domain:PIRSF500699,PROSITE_profiles:PS50089,hmmpanther:PTHR10360,hmmpanther:PTHR10360:SF10		T/M		T	medium	1523/10073		getma.org/?cm=msa&ty=f&p=MDM4_HUMAN&rb=433&re=484&var=T454M	tolerated(0.05)				YES	MDM4,missense_variant,p.Thr454Met,ENST00000367182,NM_001278516.1,NM_001204171.1,NM_002393.4,NM_001278519.1,NM_001278518.1,NM_001278517.1;MDM4,missense_variant,p.Thr404Met,ENST00000454264,;MDM4,missense_variant,p.Thr128Met,ENST00000367183,NM_001204172.1;MDM4,3_prime_UTR_variant,,ENST00000391947,;MDM4,intron_variant,,ENST00000507825,;MDM4,downstream_gene_variant,,ENST00000367179,;MDM4,downstream_gene_variant,,ENST00000444261,;MDM4,non_coding_transcript_exon_variant,,ENST00000463049,;MDM4,downstream_gene_variant,,ENST00000470908,;MDM4,downstream_gene_variant,,ENST00000471783,;							MODERATE	1361/1473	T454M	MDM4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000356150		CCDS1447.1			1	
ZNF337	0	LGGM	GRCh37	20	25655869	25655869	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	55	40	.	.	ENST00000376436.1:c.2055T>C	p.Phe685=	p.F685=	ENST00000376436		685	ttT/ttC	0	1		UPI000013C35E	0		ENST00000252979		ENSG00000130684	15809		95			HGNC	p.F685F		ZNF337		SNV							ENST00000376436	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		F		G		2187/3205				B3KPK8_HUMAN				ZNF337,synonymous_variant,p.=,ENST00000376436,;ZNF337,synonymous_variant,p.=,ENST00000252979,NM_015655.2;ZNF337,synonymous_variant,p.=,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,;							LOW	2055/2256		ZN337_HUMAN			Transcript			.	ENSP00000252979		CCDS13174.1			1	
HGF	0	LGGM	GRCh37	7	81386551	81386551	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	56	43	.	.	ENST00000222390.5:c.436G>C	p.Gly146Arg	p.G146R	ENST00000222390	NM_000601.4	146	Ggc/Cgc	0	1	1	UPI000000D92B	0	getma.org/pdb.php?prot=HGF_HUMAN&from=128&to=206&var=G146R	ENST00000222390		ENSG00000019991	4893		99	3.465		HGNC	p.G43R		HGF		SNV			1				ENST00000453018	protein_coding	getma.org/?cm=var&var=hg19,7,81386551,C,G&fts=all		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,Prints_domain:PR00018		G/R		G	medium	663/5989		getma.org/?cm=msa&ty=f&p=HGF_HUMAN&rb=128&re=206&var=G146R	deleterious(0)	C9JS80_HUMAN,C9JDP4_HUMAN			YES	HGF,missense_variant,p.Gly146Arg,ENST00000222390,NM_000601.4;HGF,missense_variant,p.Gly146Arg,ENST00000457544,NM_001010932.1;HGF,missense_variant,p.Gly146Arg,ENST00000423064,NM_001010934.1;HGF,missense_variant,p.Gly146Arg,ENST00000354224,;HGF,missense_variant,p.Gly146Arg,ENST00000444829,NM_001010931.1,NM_001010933.1;HGF,missense_variant,p.Gly146Arg,ENST00000453411,;HGF,missense_variant,p.Gly43Arg,ENST00000453018,;HGF,downstream_gene_variant,,ENST00000412881,;HGF,downstream_gene_variant,,ENST00000421558,;HGF,non_coding_transcript_exon_variant,,ENST00000465234,;							MODERATE	436/2187	G146R	HGF_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000222390		CCDS5597.1			1	
OR7D4	0	LGGM	GRCh37	19	9324994	9324994	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	55	45	.	.	ENST00000308682.2:c.520A>G	p.Ile174Val	p.I174V	ENST00000308682	NM_001005191.2	174	Att/Gtt	0	1	1	UPI00000472B5	0	NA	ENST00000308682		ENSG00000174667	8380		100	2.11		HGNC	p.I174V		OR7D4		SNV							ENST00000308682	protein_coding	getma.org/?cm=var&var=hg19,19,9324994,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF131,Superfamily_domains:SSF81321		I/V		C	medium	549/1017		getma.org/?cm=msa&ty=f&p=OR7D4_HUMAN&rb=139&re=283&var=I174V	deleterious(0.04)				YES	OR7D4,missense_variant,p.Ile174Val,ENST00000308682,NM_001005191.2;							MODERATE	520/939	I174V	OR7D4_HUMAN			Transcript		benign(0.246)	.	ENSP00000310488		CCDS32901.1			1	
KCNK2	0	LGGM	GRCh37	1	215368337	215368337	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	70	49	.	.	ENST00000444842.2:c.865G>A	p.Val289Met	p.V289M	ENST00000444842	NM_014217.3	289	Gtg/Atg	0	1	1	UPI000013D4B8	0	getma.org/pdb.php?prot=KCNK2_HUMAN&from=233&to=313&var=V289M	ENST00000444842		ENSG00000082482	6277		119	2.215		HGNC	p.V274M	COSM1211574,COSM1211573	KCNK2		SNV						1,1	ENST00000391894	protein_coding	getma.org/?cm=var&var=hg19,1,215368337,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324,Prints_domain:PR01499		V/M		A	medium	1015/3379		getma.org/?cm=msa&ty=f&p=KCNK2_HUMAN&rb=233&re=313&var=V289M	deleterious(0.01)	C9JXY2_HUMAN,C9JDK1_HUMAN			YES	KCNK2,missense_variant,p.Val289Met,ENST00000444842,NM_014217.3,NM_001017425.2;KCNK2,missense_variant,p.Val274Met,ENST00000391894,;KCNK2,missense_variant,p.Val285Met,ENST00000391895,NM_001017424.2;KCNK2,synonymous_variant,p.=,ENST00000467031,;KCNK2,synonymous_variant,p.=,ENST00000474771,;KCNK2,3_prime_UTR_variant,,ENST00000486921,;KCNK2,3_prime_UTR_variant,,ENST00000470177,;					1,1		MODERATE	865/1281	V289M	KCNK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000394033		CCDS41467.1			1	
ZNF813	0	LGGM	GRCh37	19	53995036	53995036	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	74	50	.	.	ENST00000396403.4:c.1550A>T	p.His517Leu	p.H517L	ENST00000396403	NM_001004301.3	517	cAt/cTt	0	1	1	UPI000040C511	0	getma.org/pdb.php?prot=ZN813_HUMAN&from=509&to=534&var=H517L	ENST00000396403		ENSG00000198346	33257		124	3.62		HGNC	p.H517L		ZNF813		SNV							ENST00000396403	protein_coding	getma.org/?cm=var&var=hg19,19,53995036,A,T&fts=all		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		H/L		T	high	1678/6151		getma.org/?cm=msa&ty=f&p=ZN813_HUMAN&rb=489&re=554&var=H517L	deleterious(0)	C9JZ01_HUMAN			YES	ZNF813,missense_variant,p.His517Leu,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,;							MODERATE	1550/1854	H517L	ZN813_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379684		CCDS46172.1			1	
RNF150	0	LGGM	GRCh37	4	141888936	141888936	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	56	50	.	.	ENST00000515673.2:c.576C>A	p.Tyr192Ter	p.Y192*	ENST00000515673		192	taC/taA	0	1	1	UPI00004C9B0C	0	NA	ENST00000515673		ENSG00000170153	23138		106	0		HGNC	p.Y51X		RNF150		SNV							ENST00000420921	protein_coding	getma.org/?cm=var&var=hg19,4,141888936,G,T&fts=all		hmmpanther:PTHR22765:SF42,hmmpanther:PTHR22765		Y/*		T	NA	610/9805		NA		D6RIE5_HUMAN			YES	RNF150,stop_gained,p.Tyr192Ter,ENST00000515673,;RNF150,stop_gained,p.Tyr192Ter,ENST00000306799,NM_020724.1;RNF150,stop_gained,p.Tyr51Ter,ENST00000420921,;RNF150,stop_gained,p.Tyr51Ter,ENST00000379512,;RNF150,stop_gained,p.Tyr192Ter,ENST00000507500,;RNF150,stop_gained,p.Tyr23Ter,ENST00000506101,;RNF150,non_coding_transcript_exon_variant,,ENST00000515057,;							HIGH	576/1317	Y192*	RN150_HUMAN			Transcript			.	ENSP00000425840		CCDS34065.1			1	
ACACB	0	LGGM	GRCh37	12	109577730	109577730	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H092431	H092431N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	84	52	.	.	ENST00000338432.7:c.520del	p.Ser174ProfsTer32	p.S174Pfs*32	ENST00000338432		174	Tcc/cc	0	1	1	UPI0000DBEEFB	0		ENST00000338432		ENSG00000076555	85		136			HGNC	p.S174fs		ACACB		deletion							ENST00000377848	protein_coding					S/X		-		639/9360				F5H5C3_HUMAN,E9PEW7_HUMAN			YES	ACACB,frameshift_variant,p.Ser174ProfsTer32,ENST00000338432,;ACACB,frameshift_variant,p.Ser174ProfsTer32,ENST00000377848,NM_001093.3;ACACB,frameshift_variant,p.Ser174ProfsTer32,ENST00000377854,;ACACB,downstream_gene_variant,,ENST00000539864,;ACACB,upstream_gene_variant,,ENST00000546328,;							HIGH	520/7377		ACACB_HUMAN			Transcript			.	ENSP00000341044		CCDS31898.1			1	
TNKS1BP1	0	LGGM	GRCh37	11	57076275	57076275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	66	62	.	.	ENST00000532437.1:c.3910C>T	p.Leu1304Phe	p.L1304F	ENST00000532437		1304	Ctt/Ttt	0	1		UPI000013DB72	0	NA	ENST00000358252		ENSG00000149115	19081		128	1.39		HGNC	p.L1304F		TNKS1BP1		SNV							ENST00000532437	protein_coding	getma.org/?cm=var&var=hg19,11,57076275,G,A&fts=all		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2		L/F		A	low	4063/5795		getma.org/?cm=msa&ty=f&p=TB182_HUMAN&rb=748&re=1727&var=L1304F	tolerated(0.41)	E9PKK0_HUMAN,E9PKE7_HUMAN				TNKS1BP1,missense_variant,p.Leu1304Phe,ENST00000532437,;TNKS1BP1,missense_variant,p.Leu1304Phe,ENST00000358252,NM_033396.2;TNKS1BP1,downstream_gene_variant,,ENST00000530920,;TNKS1BP1,intron_variant,,ENST00000528882,;							MODERATE	3910/5190	L1304F	TB182_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000350990		CCDS7951.1			1	
MYH2	0	LGGM	GRCh37	17	10433029	10433029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	33	68	.	.	ENST00000245503.5:c.2969G>T	p.Gly990Val	p.G990V	ENST00000245503	NM_017534.5	990	gGt/gTt	0	1	1	UPI000012FB6C	0	NA	ENST00000245503		ENSG00000125414	7572		101	-0.93		HGNC	p.G990V		MYH2		SNV			1				ENST00000245503	protein_coding	getma.org/?cm=var&var=hg19,17,10433029,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF314,Superfamily_domains:SSF90257		G/V		A	neutral	3354/6339		getma.org/?cm=msa&ty=f&p=MYH2_HUMAN&rb=973&re=1073&var=G990V	tolerated(0.34)	J3QLR0_HUMAN,E7EX84_HUMAN,C9JIX4_HUMAN			YES	MYH2,missense_variant,p.Gly990Val,ENST00000245503,NM_017534.5;MYH2,missense_variant,p.Gly990Val,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,;							MODERATE	2969/5826	G990V	MYH2_HUMAN			Transcript		benign(0.007)	.	ENSP00000245503		CCDS11156.1			1	
PAPOLB	0	LGGM	GRCh37	7	4900670	4900670	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092431	H092431N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	113	71	.	.	ENST00000404991.1:c.769T>A	p.Cys257Ser	p.C257S	ENST00000404991	NM_020144.4	257	Tgt/Agt	0	1	1	UPI0000131304	0	getma.org/pdb.php?prot=PAPOB_HUMAN&from=17&to=365&var=C257S	ENST00000404991		ENSG00000218823	15970		184	3.795		HGNC	p.C257S		PAPOLB		SNV							ENST00000404991	protein_coding	getma.org/?cm=var&var=hg19,7,4900670,A,T&fts=all		Gene3D:2q66A01,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF81631		C/S		T	high	956/4262		getma.org/?cm=msa&ty=f&p=PAPOB_HUMAN&rb=17&re=365&var=C257S	deleterious(0)	A4D1Z6_HUMAN			YES	PAPOLB,missense_variant,p.Cys257Ser,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,;							MODERATE	769/1911	C257S	PAPOB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384700					1	
SMG1	0	LGGM	GRCh37	16	18875151	18875151	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092431	H092431N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	142	80	.	.	ENST00000446231.2:c.3516G>A	p.Leu1172=	p.L1172=	ENST00000446231		1172	ctG/ctA	0	1	1	UPI00004F8E22	0		ENST00000446231		ENSG00000157106	30045		222			HGNC	p.L1172L		SMG1		SNV							ENST00000446231	protein_coding			PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		L		T		3929/16115				H3BPS6_HUMAN			YES	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,;							LOW	3516/10986		SMG1_HUMAN			Transcript			.	ENSP00000402515		CCDS45430.1			1	
PARD3	0	LGGM	GRCh37	10	34601294	34601294	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	150	85	.	.	ENST00000374789.3:c.3074+4741C>T		*1025*	ENST00000374789	NM_019619.3			0	1	1	UPI0000073A9F	0	NA	ENST00000374789		ENSG00000148498	16051		235	0		HGNC	p.P998S		PARD3		SNV							ENST00000374773	protein_coding	getma.org/?cm=var&var=hg19,10,34601294,G,A&fts=all						A	neutral	-/6005		getma.org/?cm=msa&ty=f&p=Q5VWU8_HUMAN&rb=881&re=1001&var=P998S					YES	PARD3,missense_variant,p.Pro1028Ser,ENST00000340077,NM_001184792.1;PARD3,missense_variant,p.Pro998Ser,ENST00000374773,NM_001184793.1;PARD3,missense_variant,p.Pro985Ser,ENST00000374776,NM_001184794.1;PARD3,missense_variant,p.Pro744Ser,ENST00000544292,;PARD3,intron_variant,,ENST00000374789,NM_019619.3;PARD3,intron_variant,,ENST00000374788,NM_001184785.1;PARD3,intron_variant,,ENST00000545693,NM_001184786.1;PARD3,intron_variant,,ENST00000346874,NM_001184787.1;PARD3,intron_variant,,ENST00000350537,NM_001184788.1,NM_001184789.1;PARD3,intron_variant,,ENST00000374790,;PARD3,intron_variant,,ENST00000545260,NM_001184790.1;PARD3,intron_variant,,ENST00000374794,NM_001184791.1;PARD3,intron_variant,,ENST00000466092,;							MODIFIER	-/4071	P998S	PARD3_HUMAN			Transcript			.	ENSP00000363921		CCDS7178.1			1	
KIF13A	0	LGGM	GRCh37	6	17837162	17837162	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	158	86	.	.	ENST00000259711.6:c.1102C>T	p.Arg368Ter	p.R368*	ENST00000259711	NM_022113.5	368	Cga/Tga	0	1	1	UPI0000E20DA3	0	NA	ENST00000259711		ENSG00000137177	14566		244	0		HGNC	p.R368X		KIF13A		SNV							ENST00000378816	protein_coding	getma.org/?cm=var&var=hg19,6,17837162,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF289,hmmpanther:PTHR24115		R/*		A	NA	1208/5941		NA					YES	KIF13A,stop_gained,p.Arg368Ter,ENST00000378814,NM_001105568.2;KIF13A,stop_gained,p.Arg368Ter,ENST00000259711,NM_022113.5;KIF13A,stop_gained,p.Arg368Ter,ENST00000378816,;KIF13A,stop_gained,p.Arg368Ter,ENST00000378826,NM_001105566.2;KIF13A,stop_gained,p.Arg368Ter,ENST00000378843,NM_001105567.2;							HIGH	1102/5418	R368*	KI13A_HUMAN			Transcript			.	ENSP00000259711		CCDS47381.1			1	
GJA9	0	LGGM	GRCh37	1	39341626	39341626	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092431	H092431N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092431N.bam, H092431T.bam	Illumina HiSeq	159	113	.	.	ENST00000357771.3:c.145C>A	p.Gln49Lys	p.Q49K	ENST00000357771	NM_030772.4	49	Cag/Aag	0	1	1	UPI000006E09A	0	getma.org/pdb.php?prot=CXA9_HUMAN&from=3&to=111&var=Q49K	ENST00000357771		ENSG00000131233	19155		272	2.99		HGNC	p.Q49K		GJA9		SNV							ENST00000360786	protein_coding	getma.org/?cm=var&var=hg19,1,39341626,G,T&fts=all		hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF48,Pfam_domain:PF00029,Gene3D:2zw3A00,SMART_domains:SM00037		Q/K		T	medium	426/2313		getma.org/?cm=msa&ty=f&p=CXA9_HUMAN&rb=3&re=111&var=Q49K	deleterious(0)				YES	GJA9,missense_variant,p.Gln49Lys,ENST00000454994,;GJA9,missense_variant,p.Gln49Lys,ENST00000357771,NM_030772.4;GJA9,missense_variant,p.Gln49Lys,ENST00000360786,;MYCBP,upstream_gene_variant,,ENST00000397572,NM_012333.4;RP5-864K19.4,non_coding_transcript_exon_variant,,ENST00000433671,;RP5-864K19.4,non_coding_transcript_exon_variant,,ENST00000456813,;RP5-864K19.4,non_coding_transcript_exon_variant,,ENST00000443161,;MYCBP,non_coding_transcript_exon_variant,,ENST00000489803,;MYCBP,non_coding_transcript_exon_variant,,ENST00000489575,;MYCBP,upstream_gene_variant,,ENST00000462027,;MYCBP,upstream_gene_variant,,ENST00000495043,;MYCBP,upstream_gene_variant,,ENST00000494695,;MYCBP,upstream_gene_variant,,ENST00000465771,;							MODERATE	145/1548	Q49K	CXA9_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000350415		CCDS432.1			1	
FAP	0	LGGM	GRCh37	2	163059656	163059656	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	11	2	.	.	ENST00000188790.4:c.1048-1G>T		p.X350_splice	ENST00000188790	NM_004460.2			0	1	1	UPI00000012A2	0		ENST00000188790		ENSG00000078098	3590		13			HGNC	-		FAP		SNV							ENST00000188790	protein_coding							A		-/2780				C9J131_HUMAN			YES	FAP,splice_acceptor_variant,,ENST00000188790,NM_004460.2;FAP,splice_acceptor_variant,,ENST00000443424,;FAP,upstream_gene_variant,,ENST00000422436,;FAP,upstream_gene_variant,,ENST00000465424,;FAP,upstream_gene_variant,,ENST00000465088,;							HIGH	1048/2283		SEPR_HUMAN			Transcript			.	ENSP00000188790		CCDS33311.1			1	
PLEKHD1	0	LGGM	GRCh37	14	69993497	69993497	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	12	2	.	.	ENST00000322564.7:c.1007C>A	p.Ser336Ter	p.S336*	ENST00000322564	NM_001161498.1	336	tCg/tAg	0	1	1	UPI0000EE334F	0	NA	ENST00000322564		ENSG00000175985	20148		14	0		HGNC	p.S336X		PLEKHD1		SNV							ENST00000322564	protein_coding	getma.org/?cm=var&var=hg19,14,69993497,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14383		S/*		A	NA	1219/1812		NA					YES	PLEKHD1,stop_gained,p.Ser336Ter,ENST00000322564,NM_001161498.1;							HIGH	1007/1521	S336*	PLHD1_HUMAN			Transcript			.	ENSP00000317175		CCDS53903.1			1	
MVP	0	LGGM	GRCh37	16	29841963	29841963	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	35	3	.	.	ENST00000357402.5:c.93G>A	p.Gly31=	p.G31=	ENST00000357402	NM_017458.3	31	ggG/ggA	0	1	1	UPI000012FA9C	0		ENST00000357402		ENSG00000013364	7531		38			HGNC	p.G15D		MVP		SNV							ENST00000452209	protein_coding			PROSITE_profiles:PS51224,hmmpanther:PTHR14165:SF3,hmmpanther:PTHR14165,Pfam_domain:PF01505		G		A		231/2865				H3BUK7_HUMAN,H3BRL2_HUMAN,H3BQK6_HUMAN,H3BP76_HUMAN,H3BNF2_HUMAN			YES	MVP,missense_variant,p.Gly15Asp,ENST00000452209,;MVP,synonymous_variant,p.=,ENST00000357402,NM_017458.3,NM_005115.4;MVP,synonymous_variant,p.=,ENST00000395353,;MVP,synonymous_variant,p.=,ENST00000563915,;MVP,synonymous_variant,p.=,ENST00000570234,;MVP,synonymous_variant,p.=,ENST00000566066,;MVP,synonymous_variant,p.=,ENST00000563558,;MVP,synonymous_variant,p.=,ENST00000566252,;MVP,synonymous_variant,p.=,ENST00000565164,;MVP,non_coding_transcript_exon_variant,,ENST00000566554,;MVP,non_coding_transcript_exon_variant,,ENST00000565830,;MVP,upstream_gene_variant,,ENST00000570061,;MVP,splice_region_variant,,ENST00000569887,;MVP,synonymous_variant,p.=,ENST00000566859,;MVP,synonymous_variant,p.=,ENST00000562463,;MVP,non_coding_transcript_exon_variant,,ENST00000563096,;MVP,upstream_gene_variant,,ENST00000569612,;MVP,upstream_gene_variant,,ENST00000563123,;PAGR1,downstream_gene_variant,,ENST00000562285,;							LOW	93/2682		MVP_HUMAN			Transcript			.	ENSP00000349977		CCDS10656.1			1	
F10	0	LGGM	GRCh37	13	113801760	113801760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	21	3	.	.	ENST00000375559.3:c.815T>C	p.Leu272Pro	p.L272P	ENST00000375559	NM_000504.3	272	cTa/cCa	0	1	1	UPI000000DB39	0	getma.org/pdb.php?prot=FA10_HUMAN&from=235&to=462&var=L272P	ENST00000375559		ENSG00000126218	3528		24	4.335		HGNC	p.L272P		F10		SNV			1				ENST00000375559	protein_coding	getma.org/?cm=var&var=hg19,13,113801760,T,C&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001143,Prints_domain:PR00722,PROSITE_patterns:PS00134,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF40,SMART_domains:SM00020,Superfamily_domains:SSF50494		L/P		C	high	853/1517		getma.org/?cm=msa&ty=f&p=FA10_HUMAN&rb=235&re=462&var=L272P	deleterious(0.02)	Q5JVE7_HUMAN			YES	F10,missense_variant,p.Leu272Pro,ENST00000375559,NM_000504.3;F10,missense_variant,p.Leu272Pro,ENST00000375551,;F10,missense_variant,p.Leu272Pro,ENST00000409306,;F10,3_prime_UTR_variant,,ENST00000410083,;F10,non_coding_transcript_exon_variant,,ENST00000498455,;F10,downstream_gene_variant,,ENST00000477269,;							MODERATE	815/1467	L272P	FA10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364709		CCDS9530.1			1	
MUC5B	0	LGGM	GRCh37	11	1266677	1266677	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	28	3	.	.	ENST00000529681.1:c.8567G>A	p.Ser2856Asn	p.S2856N	ENST00000529681	NM_002458.2	2856	aGc/aAc	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		31	0.55		HGNC	p.S2856N		MUC5B		SNV			1				ENST00000529681	protein_coding	getma.org/?cm=var&var=hg19,11,1266677,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		S/N		A	neutral	8625/17911		getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=2810&re=2875&var=S2856N		Q93043_HUMAN			YES	MUC5B,missense_variant,p.Ser2859Asn,ENST00000447027,;MUC5B,missense_variant,p.Ser2856Asn,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;							MODERATE	8567/17289	S2856N	MUC5B_HUMAN			Transcript		unknown(0)	.	ENSP00000436812		CCDS44515.2			1	
HYDIN	0	LGGM	GRCh37	16	70993591	70993591	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	17	3	.	.	ENST00000393567.2:c.6101G>T	p.Arg2034Leu	p.R2034L	ENST00000393567	NM_001270974.1	2034	cGg/cTg	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		20	2.175		HGNC	p.R2034L		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70993591,C,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		R/L		A	medium	6252/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2004&re=2203&var=R2034L		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Arg2034Leu,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,non_coding_transcript_exon_variant,,ENST00000546297,;							MODERATE	6101/15366	R2034L	HYDIN_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000377197		CCDS59269.1			1	
UBE4B	0	LGGM	GRCh37	1	10197261	10197261	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	46	3	.	.	ENST00000343090.6:c.2361T>C	p.Asn787=	p.N787=	ENST00000343090	NM_001105562.2	787	aaT/aaC	0	1	1	UPI0000137944	0		ENST00000343090		ENSG00000130939	12500		49			HGNC	p.N658N		UBE4B		SNV							ENST00000253251	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10408,hmmpanther:PTHR13931,hmmpanther:PTHR13931:SF13		N		C		2436/5267							YES	UBE4B,splice_region_variant,p.=,ENST00000377157,NM_006048.4;UBE4B,splice_region_variant,p.=,ENST00000343090,NM_001105562.2;UBE4B,splice_region_variant,p.=,ENST00000253251,;UBE4B,splice_region_variant,p.=,ENST00000470736,;UBE4B,downstream_gene_variant,,ENST00000475795,;UBE4B,intron_variant,,ENST00000466379,;							LOW	2361/3909		UBE4B_HUMAN			Transcript			.	ENSP00000343001		CCDS41245.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	75	4	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	79			HGNC	p.P34P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000526811	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
PREX2	0	LGGM	GRCh37	8	68993006	68993006	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	76	4	.	.	ENST00000288368.4:c.1811G>C	p.Gly604Ala	p.G604A	ENST00000288368	NM_024870.2	604	gGc/gCc	0	1	1	UPI0000375435	0	getma.org/pdb.php?prot=PREX2_HUMAN&from=592&to=671&var=G604A	ENST00000288368		ENSG00000046889	22950		80	1.845		HGNC	p.G604A		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,68993006,G,C&fts=all		Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1,SMART_domains:SM00228,Superfamily_domains:SSF46785,Superfamily_domains:SSF50156		G/A		C	low	2088/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=592&re=671&var=G604A	deleterious(0)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Gly604Ala,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,;							MODERATE	1811/4821	G604A	PREX2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000288368		CCDS6201.1			1	
TMTC3	0	LGGM	GRCh37	12	88547180	88547180	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	32	4	.	.	ENST00000266712.6:c.302C>A	p.Ala101Asp	p.A101D	ENST00000266712	NM_181783.3	101	gCt/gAt	0	1	1	UPI000004D255	0	NA	ENST00000266712		ENSG00000139324	26899		36	2.97		HGNC	p.A101D		TMTC3		SNV							ENST00000266712	protein_coding	getma.org/?cm=var&var=hg19,12,88547180,C,A&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF384,Transmembrane_helices:TMhelix		A/D		A	medium	522/7203		getma.org/?cm=msa&ty=f&p=TMTC3_HUMAN&rb=1&re=144&var=A101D	tolerated(0.1)	F8W044_HUMAN			YES	TMTC3,missense_variant,p.Ala101Asp,ENST00000266712,NM_181783.3;TMTC3,missense_variant,p.Ala101Asp,ENST00000549011,;TMTC3,intron_variant,,ENST00000551088,;TMTC3,missense_variant,p.Ala101Asp,ENST00000547034,;							MODERATE	302/2745	A101D	TMTC3_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000266712		CCDS9032.1			1	
SEC23IP	0	LGGM	GRCh37	10	121657951	121657951	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	80	4	.	.	ENST00000369075.3:c.176A>T	p.Asp59Val	p.D59V	ENST00000369075	NM_007190.3	59	gAt/gTt	0	1	1	UPI000006FCCE	0	NA	ENST00000369075		ENSG00000107651	17018		84	1.845		HGNC	p.D59V		SEC23IP		SNV							ENST00000369075	protein_coding	getma.org/?cm=var&var=hg19,10,121657951,A,T&fts=all		hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25		D/V		T	low	248/4656		getma.org/?cm=msa&ty=f&p=S23IP_HUMAN&rb=1&re=200&var=D59V	deleterious_low_confidence(0)				YES	SEC23IP,missense_variant,p.Asp59Val,ENST00000369075,NM_007190.3;SEC23IP,intron_variant,,ENST00000543134,;SEC23IP,upstream_gene_variant,,ENST00000442952,;SEC23IP,upstream_gene_variant,,ENST00000446561,;SEC23IP,downstream_gene_variant,,ENST00000470478,;							MODERATE	176/3003	D59V	S23IP_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000358071		CCDS7618.1			1	
MAPK10	0	LGGM	GRCh37	4	87080459	87080459	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	52	4	.	.	ENST00000359221.3:c.228C>T	p.Gly76=	p.G76=	ENST00000359221		76	ggC/ggT	0	1	1	UPI0000049042	0		ENST00000359221		ENSG00000109339	6872		56			HGNC	p.G76G		MAPK10		SNV			1				ENST00000361569	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF162,SMART_domains:SM00220,Superfamily_domains:SSF56112		G		A		755/2672				D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN			YES	MAPK10,synonymous_variant,p.=,ENST00000395169,NM_138980.2,NM_138982.2;MAPK10,synonymous_variant,p.=,ENST00000395166,;MAPK10,synonymous_variant,p.=,ENST00000359221,;MAPK10,synonymous_variant,p.=,ENST00000361569,NM_002753.3;MAPK10,synonymous_variant,p.=,ENST00000395161,;MAPK10,synonymous_variant,p.=,ENST00000511167,;MAPK10,synonymous_variant,p.=,ENST00000512689,;MAPK10,synonymous_variant,p.=,ENST00000512017,;MAPK10,synonymous_variant,p.=,ENST00000511328,;MAPK10,synonymous_variant,p.=,ENST00000512564,;MAPK10,synonymous_variant,p.=,ENST00000506773,;MAPK10,synonymous_variant,p.=,ENST00000509464,;MAPK10,5_prime_UTR_variant,,ENST00000449047,;MAPK10,downstream_gene_variant,,ENST00000503911,;MAPK10,downstream_gene_variant,,ENST00000502302,;MAPK10,downstream_gene_variant,,ENST00000513186,;RP11-778J15.1,intron_variant,,ENST00000511917,;MAPK10,non_coding_transcript_exon_variant,,ENST00000513839,;MAPK10,synonymous_variant,p.=,ENST00000310816,;							LOW	228/1395		MK10_HUMAN			Transcript			.	ENSP00000352157		CCDS34026.1			1	
ZNF772	0	LGGM	GRCh37	19	57984992	57984992	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	79	4	.	.	ENST00000343280.4:c.1120G>T	p.Gly374Ter	p.G374*	ENST00000343280	NM_001024596.2	374	Gga/Tga	0	1	1	UPI000022AA0A	0	NA	ENST00000343280		ENSG00000197128	33106		83	0		HGNC	p.G262X		ZNF772		SNV							ENST00000427512	protein_coding	getma.org/?cm=var&var=hg19,19,57984992,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF75,Superfamily_domains:SSF57667		G/*		A	NA	1381/5419		NA					YES	ZNF772,stop_gained,p.Gly374Ter,ENST00000343280,NM_001024596.2;ZNF772,stop_gained,p.Gly262Ter,ENST00000427512,;ZNF772,stop_gained,p.Gly333Ter,ENST00000356584,NM_001144068.1;ZNF772,3_prime_UTR_variant,,ENST00000425074,;ZNF772,intron_variant,,ENST00000600175,;AC004076.9,intron_variant,,ENST00000596831,;ZNF772,intron_variant,,ENST00000601768,;AC003005.2,upstream_gene_variant,,ENST00000595422,;AC003005.2,upstream_gene_variant,,ENST00000594562,;AC004076.9,intron_variant,,ENST00000415705,;ZNF772,downstream_gene_variant,,ENST00000450712,;							HIGH	1120/1470	G374*	ZN772_HUMAN			Transcript			.	ENSP00000341165		CCDS33133.1			1	
PPAPDC1A	0	LGGM	GRCh37	10	122273512	122273512	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	49	4	.	.	ENST00000398250.1:c.255A>T	p.Leu85Phe	p.L85F	ENST00000398250	NM_001030059.1	85	ttA/ttT	0	1	1	UPI00001619F5	0	NA	ENST00000398250		ENSG00000203805	23531		53	3.805		HGNC	p.L85F		PPAPDC1A		SNV							ENST00000541332	protein_coding	getma.org/?cm=var&var=hg19,10,122273512,A,T&fts=all		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF90,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix		L/F		T	high	607/1521		getma.org/?cm=msa&ty=f&p=PPC1A_HUMAN&rb=83&re=229&var=L85F	deleterious(0)				YES	PPAPDC1A,missense_variant,p.Leu85Phe,ENST00000398250,NM_001030059.1;PPAPDC1A,missense_variant,p.Leu85Phe,ENST00000541332,;PPAPDC1A,missense_variant,p.Leu85Phe,ENST00000439221,;PPAPDC1A,missense_variant,p.Leu75Phe,ENST00000369073,;PPAPDC1A,missense_variant,p.Leu85Phe,ENST00000427079,;PPAPDC1A,intron_variant,,ENST00000398248,;							MODERATE	255/816	L85F	PPC1A_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000381302		CCDS41573.1			1	
DPP10	0	LGGM	GRCh37	2	116535370	116535370	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	78	4	.	.	ENST00000393147.2:c.1333C>T	p.Leu445=	p.L445=	ENST00000393147	NM_001178034.1	445	Ctg/Ttg	0	1		UPI00001AEF55	0		ENST00000410059		ENSG00000175497	20823		82			HGNC	p.L445L		DPP10		SNV			1				ENST00000393147	protein_coding			hmmpanther:PTHR11731:SF21,hmmpanther:PTHR11731,Pfam_domain:PF00930,Gene3D:2.140.10.30,Superfamily_domains:SSF82171		L		T		1801/6278				Q53TB1_HUMAN,J3KQK8_HUMAN,C9J4M8_HUMAN				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;							LOW	1321/2391		DPP10_HUMAN			Transcript			.	ENSP00000386565		CCDS46400.1			1	
BCL9	0	LGGM	GRCh37	1	147091676	147091676	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	75	4	.	.	ENST00000234739.3:c.1715A>T	p.Glu572Val	p.E572V	ENST00000234739	NM_004326.3	572	gAa/gTa	0	1	1	UPI000013C9B9	0	NA	ENST00000234739		ENSG00000116128	1008		79	0.69		HGNC	p.E572V		BCL9		SNV							ENST00000234739	protein_coding	getma.org/?cm=var&var=hg19,1,147091676,A,T&fts=all		hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5		E/V		T	neutral	2455/6278		getma.org/?cm=msa&ty=f&p=BCL9_HUMAN&rb=390&re=589&var=E572V	deleterious(0.04)				YES	BCL9,missense_variant,p.Glu572Val,ENST00000234739,NM_004326.3;BCL9,downstream_gene_variant,,ENST00000473292,;							MODERATE	1715/4281	E572V	BCL9_HUMAN			Transcript		benign(0.057)	.	ENSP00000234739		CCDS30833.1			1	
CTNNB1	0	LGGM	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	43	21	.	.	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=265&to=349&var=K335I	ENST00000349496		ENSG00000168036	2514		64	3.02		HGNC	p.K328I	COSM17797	CTNNB1		SNV			1			1	ENST00000453024	protein_coding	getma.org/?cm=var&var=hg19,3,41268766,A,T&fts=all		PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869		K/I		T	medium	1284/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=265&re=349&var=K335I	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000488914,;					1		MODERATE	1004/2346	K335I	CTNB1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000344456		CCDS2694.1			1	
FSCB	0	LGGM	GRCh37	14	44974154	44974155	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	novel	by Submitter	H092452	H092452N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	10	10	.	.	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro	p.P679_A680insSEVQPPPAEEAP	ENST00000340446	NM_032135.3	679	cct/ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	0	1	1	UPI00001FD466	0		ENST00000340446		ENSG00000189139	20494		20			HGNC	p.P679delinsPSEVQPPPAEEAP	rs375198387	FSCB		insertion	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.3937						ENST00000340446	protein_coding			Low_complexity_(Seg):seg		P/PSEVQPPPAEEAP	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.4663	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG		2328-2329/2938							YES	FSCB,inframe_insertion,p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro,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,;							MODERATE	2036-2037/2478		FSCB_HUMAN			Transcript			.	ENSP00000344579		CCDS9679.1			1	
NLRP4	0	LGGM	GRCh37	19	56370486	56370486	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	48	5	.	.	ENST00000301295.6:c.1727C>A	p.Ala576Asp	p.A576D	ENST00000301295	NM_134444.4	576	gCt/gAt	0	1	1	UPI000013E6FD	0	NA	ENST00000301295		ENSG00000160505	22943		53	0.345		HGNC	p.A576D		NLRP4		SNV							ENST00000346986	protein_coding	getma.org/?cm=var&var=hg19,19,56370486,C,A&fts=all		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		A/D		A	neutral	2149/3670		getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=519&re=718&var=A576D	deleterious(0)	K7ES09_HUMAN			YES	NLRP4,missense_variant,p.Ala576Asp,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Ala576Asp,ENST00000346986,;NLRP4,missense_variant,p.Ala501Asp,ENST00000587891,;NLRP4,missense_variant,p.Ala142Asp,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;							MODERATE	1727/2985	A576D	NALP4_HUMAN			Transcript		benign(0.342)	.	ENSP00000301295		CCDS12936.1			1	
PREX2	0	LGGM	GRCh37	8	69046327	69046327	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	78	5	.	.	ENST00000288368.4:c.3800T>A	p.Phe1267Tyr	p.F1267Y	ENST00000288368	NM_024870.2	1267	tTc/tAc	0	1	1	UPI0000375435	0	NA	ENST00000288368		ENSG00000046889	22950		83	2.515		HGNC	p.F1267Y		PREX2		SNV							ENST00000288368	protein_coding	getma.org/?cm=var&var=hg19,8,69046327,T,A&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1		F/Y		A	medium	4077/10750		getma.org/?cm=msa&ty=f&p=PREX2_HUMAN&rb=1146&re=1345&var=F1267Y	deleterious(0)	Q56UR8_HUMAN			YES	PREX2,missense_variant,p.Phe1267Tyr,ENST00000288368,NM_024870.2,NM_025170.4;							MODERATE	3800/4821	F1267Y	PREX2_HUMAN			Transcript		benign(0.34)	.	ENSP00000288368		CCDS6201.1			1	
NPIPB5	0	LGGM	GRCh37	16	22545957	22545957	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	132	5	.	.	ENST00000424340.1:c.1653A>G	p.Thr551=	p.T551=	ENST00000424340	NM_001135865.1	551	acA/acG	0	1	1	UPI000181EF82	0		ENST00000424340		ENSG00000243716	37233		137			HGNC	p.T551T		NPIPB5		SNV							ENST00000424340	protein_coding			hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		T		G		1932/3801				U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,synonymous_variant,p.=,ENST00000424340,NM_001135865.1;NPIPB5,synonymous_variant,p.=,ENST00000517539,;NPIPB5,synonymous_variant,p.=,ENST00000415833,;NPIPB5,synonymous_variant,p.=,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;							LOW	1653/3402		NPIB5_HUMAN			Transcript			.	ENSP00000440703		CCDS45443.1			1	
MOCOS	0	LGGM	GRCh37	18	33779808	33779808	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	15	6	.	.	ENST00000261326.5:c.462C>T	p.Ser154=	p.S154=	ENST00000261326	NM_017947.2	154	tcC/tcT	0	1	1	UPI000013D165	0		ENST00000261326		ENSG00000075643	18234	8.64E-05	21			HGNC	p.S154S	rs373748036	MOCOS	6.06E-05	SNV	A:0		1	0.000289			ENST00000261326	protein_coding			Superfamily_domains:SSF53383,Gene3D:3.40.640.10,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,HAMAP:MF_03050		S	A:0.0001	T		483/6160	3.00E-05						YES	MOCOS,synonymous_variant,p.=,ENST00000261326,NM_017947.2;							LOW	462/2667		MOCOS_HUMAN			Transcript			.	ENSP00000261326	5.77E-05	CCDS11919.1			1	
RASAL3	0	LGGM	GRCh37	19	15562706	15562706	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	10	7	.	.	ENST00000343625.7:c.2936G>A	p.Arg979Lys	p.R979K	ENST00000343625	NM_022904.1	979	aGg/aAg	0	1	1	UPI0000197831	0	NA	ENST00000343625		ENSG00000105122	26129		17	0.46		HGNC	p.R979K		RASAL3		SNV							ENST00000343625	protein_coding	getma.org/?cm=var&var=hg19,19,15562706,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10194:SF82,hmmpanther:PTHR10194		R/K		T	neutral	3022/3293		getma.org/?cm=msa&ty=f&p=RASL3_HUMAN&rb=912&re=1006&var=R979K	tolerated(0.56)				YES	RASAL3,missense_variant,p.Arg979Lys,ENST00000343625,NM_022904.1;RASAL3,missense_variant,p.Arg413Lys,ENST00000599694,;RASAL3,3_prime_UTR_variant,,ENST00000609274,;WIZ,upstream_gene_variant,,ENST00000389282,;WIZ,upstream_gene_variant,,ENST00000263381,NM_021241.2;WIZ,upstream_gene_variant,,ENST00000596159,;MIR1470,downstream_gene_variant,,ENST00000600745,;RASAL3,downstream_gene_variant,,ENST00000595098,;RASAL3,non_coding_transcript_exon_variant,,ENST00000602101,;RASAL3,downstream_gene_variant,,ENST00000597025,;							MODERATE	2936/3036	R979K	RASL3_HUMAN			Transcript		benign(0.001)	.	ENSP00000341905		CCDS46006.1			1	
TMEM150C	0	LGGM	GRCh37	4	83423890	83423890	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	4	7	.	.	ENST00000515780.2:c.225A>C	p.Ala75=	p.A75=	ENST00000515780		75	gcA/gcC	0	1		UPI000020B0D7	0		ENST00000449862		ENSG00000249242	37263		11			HGNC	p.A75A		TMEM150C		SNV							ENST00000508701	protein_coding			Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF7,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A		G		544/1990				D6RDW6_HUMAN				TMEM150C,synonymous_variant,p.=,ENST00000515780,;TMEM150C,synonymous_variant,p.=,ENST00000449862,NM_001080506.1;TMEM150C,synonymous_variant,p.=,ENST00000508701,;TMEM150C,downstream_gene_variant,,ENST00000454948,;							LOW	225/750		T150C_HUMAN			Transcript			.	ENSP00000403438		CCDS47087.1			1	
LRRC4C	0	LGGM	GRCh37	11	40136447	40136447	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	24	7	.	.	ENST00000278198.2:c.1396C>A	p.Gln466Lys	p.Q466K	ENST00000278198		466	Cag/Aag	0	1	1	UPI000000D9A7	0	NA	ENST00000278198		ENSG00000148948	29317		31	0.895		HGNC	p.Q466K		LRRC4C		SNV							ENST00000528697	protein_coding	getma.org/?cm=var&var=hg19,11,40136447,G,T&fts=all		hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369		Q/K		T	low	3360/4054		getma.org/?cm=msa&ty=f&p=LRC4C_HUMAN&rb=444&re=500&var=Q466K	tolerated_low_confidence(0.9)	E9PLP4_HUMAN			YES	LRRC4C,missense_variant,p.Gln466Lys,ENST00000278198,;LRRC4C,missense_variant,p.Gln466Lys,ENST00000527150,;LRRC4C,missense_variant,p.Gln466Lys,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Gln466Lys,ENST00000528697,NM_001258419.1;LRRC4C,downstream_gene_variant,,ENST00000533474,;							MODERATE	1396/1923	Q466K	LRC4C_HUMAN			Transcript		benign(0.001)	.	ENSP00000278198		CCDS31464.1			1	
TMEM150C	0	LGGM	GRCh37	4	83423900	83423900	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	4	7	.	.	ENST00000515780.2:c.215T>A	p.Met72Lys	p.M72K	ENST00000515780		72	aTg/aAg	0	1		UPI000020B0D7	0	NA	ENST00000449862		ENSG00000249242	37263		11	1.7		HGNC	p.M72K		TMEM150C		SNV							ENST00000508701	protein_coding	getma.org/?cm=var&var=hg19,4,83423900,A,T&fts=all		Pfam_domain:PF10277,hmmpanther:PTHR21324,hmmpanther:PTHR21324:SF7,Transmembrane_helices:TMhelix		M/K		T	low	534/1990		getma.org/?cm=msa&ty=f&p=T150C_HUMAN&rb=8&re=218&var=M72K	deleterious(0.01)	D6RDW6_HUMAN				TMEM150C,missense_variant,p.Met72Lys,ENST00000515780,;TMEM150C,missense_variant,p.Met72Lys,ENST00000449862,NM_001080506.1;TMEM150C,missense_variant,p.Met72Lys,ENST00000508701,;TMEM150C,downstream_gene_variant,,ENST00000454948,;							MODERATE	215/750	M72K	T150C_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000403438		CCDS47087.1			1	
LILRB1	0	LGGM	GRCh37	19	55148076	55148076	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	31	8	.	.	ENST00000324602.7:c.1785G>T	p.Ala595=	p.A595=	ENST00000324602	NM_001278399.1	595	gcG/gcT	0	1	1	UPI0000034BFC	0		ENST00000324602		ENSG00000104972	6605		39			HGNC	p.A577A		LILRB1		SNV							ENST00000396317	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF89		A		T		2010/2834							YES	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,;LILRB1,3_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,;							LOW	1785/1959		LIRB1_HUMAN			Transcript			.	ENSP00000315997		CCDS42614.1			1	
FSTL4	0	LGGM	GRCh37	5	132652217	132652217	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	29	8	.	.	ENST00000265342.7:c.537G>C	p.Val179=	p.V179=	ENST00000265342	NM_015082.1	179	gtG/gtC	0	1	1	UPI000003AFB0	0		ENST00000265342		ENSG00000053108	21389		37			HGNC	p.V179V		FSTL4		SNV							ENST00000265342	protein_coding			PROSITE_profiles:PS50222,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF9,Superfamily_domains:SSF47473		V		G		787/5419							YES	FSTL4,synonymous_variant,p.=,ENST00000265342,NM_015082.1;FSTL4,downstream_gene_variant,,ENST00000510685,;FSTL4,non_coding_transcript_exon_variant,,ENST00000514998,;							LOW	537/2529		FSTL4_HUMAN			Transcript			.	ENSP00000265342		CCDS34238.1			1	
CPSF3	0	LGGM	GRCh37	2	9563933	9563933	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	10	8	.	.	ENST00000238112.3:c.31C>T	p.Gln11Ter	p.Q11*	ENST00000238112	NM_016207.3	11	Cag/Tag	0	1	1	UPI00001282F5	0	NA	ENST00000238112		ENSG00000119203	2326		18	0		HGNC	p.Q11X		CPSF3		SNV							ENST00000238112	protein_coding	getma.org/?cm=var&var=hg19,2,9563933,C,T&fts=all		Gene3D:3.60.15.10,hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF32,Superfamily_domains:SSF56281		Q/*		T	NA	237/2345		NA		G5E9W3_HUMAN,C9JZH6_HUMAN			YES	CPSF3,stop_gained,p.Gln11Ter,ENST00000238112,NM_016207.3;CPSF3,5_prime_UTR_variant,,ENST00000475482,;ITGB1BP1,upstream_gene_variant,,ENST00000360635,;CPSF3,upstream_gene_variant,,ENST00000460593,;ITGB1BP1,upstream_gene_variant,,ENST00000359712,;ITGB1BP1,upstream_gene_variant,,ENST00000355346,NM_004763.3;ITGB1BP1,upstream_gene_variant,,ENST00000238091,NM_022334.3;ITGB1BP1,upstream_gene_variant,,ENST00000456913,;ITGB1BP1,upstream_gene_variant,,ENST00000488451,;ITGB1BP1,upstream_gene_variant,,ENST00000492079,;ITGB1BP1,upstream_gene_variant,,ENST00000494563,;ITGB1BP1,upstream_gene_variant,,ENST00000460001,;ITGB1BP1,upstream_gene_variant,,ENST00000497105,;ITGB1BP1,upstream_gene_variant,,ENST00000484735,;ITGB1BP1,upstream_gene_variant,,ENST00000467606,;ITGB1BP1,upstream_gene_variant,,ENST00000490426,;ITGB1BP1,upstream_gene_variant,,ENST00000482798,;ITGB1BP1,upstream_gene_variant,,ENST00000497031,;ITGB1BP1,upstream_gene_variant,,ENST00000483795,;ITGB1BP1,upstream_gene_variant,,ENST00000464228,;ITGB1BP1,upstream_gene_variant,,ENST00000463190,;							HIGH	31/2055	Q11*	CPSF3_HUMAN			Transcript			.	ENSP00000238112		CCDS1664.1			1	
PYGM	0	LGGM	GRCh37	11	64514146	64514146	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	11	9	.	.	ENST00000164139.3:c.2514G>A	p.Pro838=	p.P838=	ENST00000164139	NM_005609.2	838	ccG/ccA	0	1	1	UPI000013C5AC	0		ENST00000164139		ENSG00000068976	9726		20			HGNC	p.P750P	rs759671853,COSM930178	PYGM		SNV			1	9.62E-05		0,1	ENST00000377432	protein_coding			PIRSF_domain:PIRSF000460,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1		P		T		2913/3198							YES	PYGM,synonymous_variant,p.=,ENST00000164139,NM_005609.2;PYGM,synonymous_variant,p.=,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,;					0,1		LOW	2514/2529		PYGM_HUMAN			Transcript			.	ENSP00000164139	8.24E-06	CCDS8079.1			1	
TUBB8	0	LGGM	GRCh37	10	93393	93393	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	89	9	.	.	ENST00000309812.4:c.939G>A	p.Ala313=	p.A313=	ENST00000309812	NM_177987.2	313	gcG/gcA	0	1	1	UPI000007238E	0		ENST00000309812		ENSG00000173876	20773		98			HGNC	p.A241A	rs782168299	TUBB8		SNV							ENST00000447903	protein_coding			Prints_domain:PR01163,Superfamily_domains:SSF55307,SMART_domains:SM00865,Pfam_domain:PF03953,Gene3D:3.30.1330.20,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588		A		T		1002/1563	4.71E-05			F5H0I4_HUMAN			YES	TUBB8,synonymous_variant,p.=,ENST00000447903,;TUBB8,synonymous_variant,p.=,ENST00000309812,NM_177987.2;TUBB8,downstream_gene_variant,,ENST00000332708,;TUBB8,downstream_gene_variant,,ENST00000413237,;TUBB8,downstream_gene_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;							LOW	939/1335		TBB8_HUMAN			Transcript			.	ENSP00000311042	2.52E-05	CCDS7051.1			1	
CENPF	0	LGGM	GRCh37	1	214816084	214816084	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	25	10	.	.	ENST00000366955.3:c.4403T>C	p.Leu1468Ser	p.L1468S	ENST00000366955	NM_016343.3	1468	tTg/tCg	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		35	0		HGNC	p.L1468S		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214816084,T,C&fts=all		hmmpanther:PTHR18874		L/S		C	neutral	4571/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=1489&re=1688&var=L1564S					YES	CENPF,missense_variant,p.Leu1468Ser,ENST00000366955,NM_016343.3;							MODERATE	4403/9345	L1564S	CENPF_HUMAN			Transcript		benign(0.001)	.	ENSP00000355922		CCDS31023.1			1	
HECW2	0	LGGM	GRCh37	2	197135987	197135987	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	22	10	.	.	ENST00000260983.3:c.3265C>T	p.Leu1089=	p.L1089=	ENST00000260983	NM_020760.1	1089	Cta/Tta	0	1	1	UPI00001A75E8	0		ENST00000260983		ENSG00000138411	29853		32			HGNC	p.L1089L		HECW2		SNV							ENST00000260983	protein_coding			hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254		L		A		3448/11809				C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.1;HECW2,synonymous_variant,p.=,ENST00000409111,;HECW2,non_coding_transcript_exon_variant,,ENST00000462290,;							LOW	3265/4719		HECW2_HUMAN			Transcript			.	ENSP00000260983		CCDS33354.1			1	
TF	0	LGGM	GRCh37	3	133467449	133467449	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	7	10	.	.	ENST00000402696.3:c.216+21A>C		*72*	ENST00000402696	NM_001063.3			0	1	1	UPI000013D5A6	0		ENST00000402696		ENSG00000091513	11740		17			HGNC	p.K79N		TF		SNV			1				ENST00000414694	protein_coding							C		-/2968				J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,intron_variant,,ENST00000402696,NM_001063.3;TF,intron_variant,,ENST00000264998,;TF,intron_variant,,ENST00000482271,;TF,intron_variant,,ENST00000466911,;TF,intron_variant,,ENST00000475382,;TFP1,intron_variant,,ENST00000460564,;TF,missense_variant,p.Lys79Asn,ENST00000414694,;TF,intron_variant,,ENST00000493011,;TF,intron_variant,,ENST00000498622,;TF,intron_variant,,ENST00000474287,;TF,intron_variant,,ENST00000494430,;TF,intron_variant,,ENST00000485977,;TF,intron_variant,,ENST00000460531,;							MODIFIER	-/2097		TRFE_HUMAN			Transcript			.	ENSP00000385834		CCDS3080.1			1	
MYO18B	0	LGGM	GRCh37	22	26272280	26272280	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	10	10	.	.	ENST00000335473.7:c.4205A>T	p.Glu1402Val	p.E1402V	ENST00000335473	NM_032608.5	1402	gAg/gTg	0	1		UPI0000207402	0	getma.org/pdb.php?prot=MY18B_HUMAN&from=1322&to=1461&var=E1402V	ENST00000536101		ENSG00000133454	18150		20	2.675		HGNC	p.E1403V		MYO18B		SNV							ENST00000407587	protein_coding	getma.org/?cm=var&var=hg19,22,26272280,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254,Gene3D:1.20.5.340		E/V		T	medium	4464/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=1322&re=1461&var=E1402V	deleterious(0)	Q8N903_HUMAN				MYO18B,missense_variant,p.Glu1402Val,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Glu1403Val,ENST00000407587,;MYO18B,missense_variant,p.Glu1402Val,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	4205/7704	E1402V				Transcript		probably_damaging(0.965)	.	ENSP00000441229		CCDS54507.1			1	
NBR1	0	LGGM	GRCh37	17	41345635	41345635	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	12	10	.	.	ENST00000422280.1:c.1504G>T	p.Asp502Tyr	p.D502Y	ENST00000422280	NM_031858.2	502	Gat/Tat	0	1		UPI0000161BF3	0	NA	ENST00000341165		ENSG00000188554	6746		22	1.5		HGNC	p.D481Y	rs755310607	NBR1	8.24E-05	SNV							ENST00000542611	protein_coding	getma.org/?cm=var&var=hg19,17,41345635,G,T&fts=all		hmmpanther:PTHR20930,hmmpanther:PTHR20930:SF1		D/Y		T	low	1644/4656	2.13E-05	getma.org/?cm=msa&ty=f&p=NBR1_HUMAN&rb=408&re=964&var=D502Y	deleterious(0.03)	Q3LRK1_HUMAN,Q3LRJ8_HUMAN,Q3LRJ5_HUMAN,Q3LRI9_HUMAN,Q3LRI6_HUMAN,Q3LRI0_HUMAN,B7Z4J4_HUMAN				NBR1,missense_variant,p.Asp502Tyr,ENST00000422280,NM_031858.2;NBR1,missense_variant,p.Asp502Tyr,ENST00000341165,NM_031862.2;NBR1,missense_variant,p.Asp502Tyr,ENST00000389312,;NBR1,missense_variant,p.Asp502Tyr,ENST00000590996,NM_005899.3;NBR1,missense_variant,p.Asp502Tyr,ENST00000589872,;NBR1,missense_variant,p.Asp481Tyr,ENST00000542611,;NBR1,non_coding_transcript_exon_variant,,ENST00000585505,;							MODERATE	1504/2901	D502Y	NBR1_HUMAN			Transcript		benign(0.092)	.	ENSP00000343479	1.66E-05	CCDS45694.1			1	
RANBP3	0	LGGM	GRCh37	19	5923272	5923272	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	30	11	.	.	ENST00000340578.6:c.1142C>A	p.Ala381Glu	p.A381E	ENST00000340578	NM_007322.2	381	gCg/gAg	0	1	1	UPI000006F919	0	getma.org/pdb.php?prot=RANB3_HUMAN&from=378&to=518&var=A381E	ENST00000340578		ENSG00000031823	9850		41	1.845		HGNC	p.A376E		RANBP3		SNV							ENST00000439268	protein_coding	getma.org/?cm=var&var=hg19,19,5923272,G,T&fts=all		hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF91,Low_complexity_(Seg):seg		A/E		T	low	1200/3233		getma.org/?cm=msa&ty=f&p=RANB3_HUMAN&rb=378&re=518&var=A381E	tolerated(0.06)	K7ESQ0_HUMAN,K7EMH9_HUMAN,K7EIJ4_HUMAN			YES	RANBP3,missense_variant,p.Ala381Glu,ENST00000340578,NM_007322.2,NM_003624.2,NM_007320.2;RANBP3,missense_variant,p.Ala376Glu,ENST00000439268,;RANBP3,missense_variant,p.Ala308Glu,ENST00000591092,;RANBP3,missense_variant,p.Ala313Glu,ENST00000034275,;RANBP3,missense_variant,p.Ala253Glu,ENST00000541471,;RANBP3,missense_variant,p.Ala100Glu,ENST00000592621,;RANBP3,intron_variant,,ENST00000587479,;RANBP3,downstream_gene_variant,,ENST00000590623,;RANBP3,downstream_gene_variant,,ENST00000591736,;RANBP3,downstream_gene_variant,,ENST00000590953,;RANBP3,downstream_gene_variant,,ENST00000588879,;RANBP3,3_prime_UTR_variant,,ENST00000592771,;RANBP3,non_coding_transcript_exon_variant,,ENST00000587411,;RANBP3,non_coding_transcript_exon_variant,,ENST00000586344,;RANBP3,non_coding_transcript_exon_variant,,ENST00000592197,;RANBP3,non_coding_transcript_exon_variant,,ENST00000587799,;RANBP3,downstream_gene_variant,,ENST00000593025,;							MODERATE	1142/1704	A381E	RANB3_HUMAN			Transcript		benign(0.293)	.	ENSP00000341483		CCDS42478.1			1	
LDLR	0	LGGM	GRCh37	19	11240239	11240239	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	34	11	.	.	ENST00000558518.1:c.2440C>T	p.Arg814Trp	p.R814W	ENST00000558518	NM_001195798.1	814	Cgg/Tgg	0	1	1	UPI00000015DF	0	NA	ENST00000558518		ENSG00000130164	6547		45	2.345		HGNC	p.R646W	rs746616623	LDLR		SNV			1				ENST00000455727	protein_coding	getma.org/?cm=var&var=hg19,19,11240239,C,T&fts=all		hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195		R/W		T	medium	2627/3617	3.00E-05	getma.org/?cm=msa&ty=f&p=LDLR_HUMAN&rb=657&re=856&var=R814W	deleterious(0)	Q6LCH2_HUMAN,E1B4S5_HUMAN			YES	LDLR,missense_variant,p.Arg899Trp,ENST00000252444,;LDLR,missense_variant,p.Arg814Trp,ENST00000558518,NM_001195798.1,NM_000527.4;LDLR,missense_variant,p.Arg814Trp,ENST00000558013,;LDLR,missense_variant,p.Arg773Trp,ENST00000535915,NM_001195799.1;LDLR,missense_variant,p.Arg636Trp,ENST00000545707,NM_001195803.1;LDLR,missense_variant,p.Arg646Trp,ENST00000455727,NM_001195800.1;LDLR,synonymous_variant,p.=,ENST00000557933,;SPC24,downstream_gene_variant,,ENST00000585567,;LDLR,intron_variant,,ENST00000560628,;							MODERATE	2440/2583	R814W	LDLR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000454071	1.65E-05	CCDS12254.1			1	
KCND2	0	LGGM	GRCh37	7	119915573	119915573	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	15	11	.	.	ENST00000331113.4:c.887G>A	p.Arg296Gln	p.R296Q	ENST00000331113	NM_012281.2	296	cGg/cAg	0	1	1	UPI0000073D37	0	getma.org/pdb.php?prot=KCND2_HUMAN&from=231&to=405&var=R296Q	ENST00000331113		ENSG00000184408	6238		26	3.36		HGNC	p.R296Q		KCND2		SNV							ENST00000331113	protein_coding	getma.org/?cm=var&var=hg19,7,119915573,G,A&fts=all		hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF86,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324,Prints_domain:PR00169		R/Q		A	medium	1852/5331		getma.org/?cm=msa&ty=f&p=KCND2_HUMAN&rb=231&re=405&var=R296Q	deleterious(0)	A4D0V9_HUMAN,Q75LS7_HUMAN			YES	KCND2,missense_variant,p.Arg296Gln,ENST00000331113,NM_012281.2;							MODERATE	887/1893	R296Q	KCND2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333496		CCDS5776.1			1	
CLPB	0	LGGM	GRCh37	11	72040835	72040835	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	20	12	.	.	ENST00000294053.3:c.879G>T	p.Leu293=	p.L293=	ENST00000294053	NM_001258394.1	293	ctG/ctT	0	1	1	UPI00001359D5	0		ENST00000294053		ENSG00000162129	30664		32			HGNC	p.L263L		CLPB		SNV			1				ENST00000535477	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR11638,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		A		1053/3240				F5H392_HUMAN			YES	CLPB,synonymous_variant,p.=,ENST00000294053,NM_001258394.1,NM_030813.4;CLPB,synonymous_variant,p.=,ENST00000538039,NM_001258392.1;CLPB,synonymous_variant,p.=,ENST00000535990,;CLPB,synonymous_variant,p.=,ENST00000437826,;CLPB,synonymous_variant,p.=,ENST00000543042,;CLPB,synonymous_variant,p.=,ENST00000340729,NM_001258393.1;CLPB,synonymous_variant,p.=,ENST00000544382,;CLPB,synonymous_variant,p.=,ENST00000544683,;CLPB,synonymous_variant,p.=,ENST00000539148,;CLPB,synonymous_variant,p.=,ENST00000535477,;							LOW	879/2124		CLPB_HUMAN			Transcript			.	ENSP00000294053		CCDS8215.1			1	
SHCBP1	0	LGGM	GRCh37	16	46652167	46652167	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	2	12	.	.	ENST00000303383.3:c.221A>G	p.Asn74Ser	p.N74S	ENST00000303383	NM_024745.4	74	aAt/aGt	0	1	1	UPI000013E898	0	NA	ENST00000303383		ENSG00000171241	29547		14	0.805		HGNC	p.N74S		SHCBP1		SNV							ENST00000303383	protein_coding	getma.org/?cm=var&var=hg19,16,46652167,T,C&fts=all		hmmpanther:PTHR14695,hmmpanther:PTHR14695:SF6		N/S		C	low	488/3461		getma.org/?cm=msa&ty=f&p=SHCBP_HUMAN&rb=1&re=200&var=N74S	tolerated(0.51)				YES	SHCBP1,missense_variant,p.Asn74Ser,ENST00000303383,NM_024745.4;SHCBP1,upstream_gene_variant,,ENST00000569702,;RP11-46D6.1,downstream_gene_variant,,ENST00000574180,;RP11-46D6.1,downstream_gene_variant,,ENST00000562549,;SHCBP1,downstream_gene_variant,,ENST00000564272,;SHCBP1,non_coding_transcript_exon_variant,,ENST00000566016,;SHCBP1,upstream_gene_variant,,ENST00000565887,;							MODERATE	221/2019	N74S	SHCBP_HUMAN			Transcript		benign(0.001)	.	ENSP00000306473		CCDS10720.1			1	
SEMA4F	0	LGGM	GRCh37	2	74907159	74907171	+	frameshift_variant	Frame_Shift_Del	DEL	CAGCCAAGACCCT	CAGCCAAGACCCT	-	novel	by Submitter	H092452	H092452N.bam	CAGCCAAGACCCT	CAGCCAAGACCCT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	29	12	.	.	ENST00000357877.2:c.2137_2149del	p.Ser713ProfsTer41	p.S713Pfs*41	ENST00000357877	NM_004263.4	712	taCAGCCAAGACCCT/ta	0	1	1	UPI0000001BF5	0		ENST00000357877		ENSG00000135622	10734		41			HGNC	p.712_716del		SEMA4F		deletion							ENST00000357877	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF72		YSQDP/X		-		2285-2297/4312							YES	SEMA4F,frameshift_variant,p.Ser713ProfsTer41,ENST00000357877,NM_004263.4,NM_001271662.1;SEMA4F,frameshift_variant,p.Ser558ProfsTer41,ENST00000339773,NM_001271661.1;SEMA4F,downstream_gene_variant,,ENST00000473350,;SEMA4F,3_prime_UTR_variant,,ENST00000446927,;SEMA4F,3_prime_UTR_variant,,ENST00000420077,;							HIGH	2136-2148/2313		SEM4F_HUMAN			Transcript	1		.	ENSP00000350547		CCDS1955.1			1	
DYSF	0	LGGM	GRCh37	2	71827939	71827939	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	19	13	.	.	ENST00000410020.3:c.3864G>A	p.Leu1288=	p.L1288=	ENST00000410020	NM_001130987.1	1288	ctG/ctA	0	1		UPI0000129A56	0		ENST00000258104		ENSG00000135636	3097		32			HGNC	p.L1288L		DYSF		SNV			1				ENST00000410020	protein_coding			Superfamily_domains:SSF49562,Gene3D:2.60.40.150,hmmpanther:PTHR12546:SF35,hmmpanther:PTHR12546		L		A		4087/6796				Q7Z6P1_HUMAN,B7Z2R1_HUMAN				DYSF,synonymous_variant,p.=,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,synonymous_variant,p.=,ENST00000409582,NM_001130981.1;DYSF,synonymous_variant,p.=,ENST00000413539,NM_001130979.1;DYSF,synonymous_variant,p.=,ENST00000429174,NM_001130978.1,NM_001130977.1;DYSF,synonymous_variant,p.=,ENST00000409762,NM_001130980.1;DYSF,synonymous_variant,p.=,ENST00000410020,NM_001130987.1;DYSF,synonymous_variant,p.=,ENST00000409651,NM_001130982.1;DYSF,synonymous_variant,p.=,ENST00000409366,NM_001130983.1;DYSF,synonymous_variant,p.=,ENST00000410041,NM_001130985.1;DYSF,synonymous_variant,p.=,ENST00000409744,NM_001130984.1;DYSF,synonymous_variant,p.=,ENST00000394120,NM_001130986.1,NM_001130455.1;DYSF,non_coding_transcript_exon_variant,,ENST00000479049,;DYSF,non_coding_transcript_exon_variant,,ENST00000475076,;DYSF,non_coding_transcript_exon_variant,,ENST00000493767,;DYSF,upstream_gene_variant,,ENST00000472873,;DYSF,upstream_gene_variant,,ENST00000487180,;DYSF,upstream_gene_variant,,ENST00000494501,;							LOW	3810/6243		DYSF_HUMAN			Transcript			.	ENSP00000258104		CCDS1918.1			1	
MBOAT2	0	LGGM	GRCh37	2	9083382	9083382	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	37	14	.	.	ENST00000305997.3:c.233A>T	p.His78Leu	p.H78L	ENST00000305997	NM_138799.2	78	cAc/cTc	0	1	1	UPI0000231CFB	0	NA	ENST00000305997		ENSG00000143797	25193		51	2.845		HGNC	p.H55L		MBOAT2		SNV							ENST00000462696	protein_coding	getma.org/?cm=var&var=hg19,2,9083382,T,A&fts=all		hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF7,Transmembrane_helices:TMhelix		H/L		A	medium	432/7751		getma.org/?cm=msa&ty=f&p=MBOA2_HUMAN&rb=1&re=114&var=H78L	deleterious(0)	B0AZU0_HUMAN			YES	MBOAT2,missense_variant,p.His78Leu,ENST00000305997,NM_138799.2;MBOAT2,missense_variant,p.His55Leu,ENST00000462696,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000486484,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000474341,;MBOAT2,non_coding_transcript_exon_variant,,ENST00000460786,;MBOAT2,intron_variant,,ENST00000477073,;							MODERATE	233/1563	H78L	MBOA2_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000302177		CCDS1660.1			1	
SUDS3	0	LGGM	GRCh37	12	118841242	118841242	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	112	14	.	.	ENST00000543473.1:c.723G>T	p.Leu241Phe	p.L241F	ENST00000543473	NM_022491.2	241	ttG/ttT	0	1	1	UPI00001C1F43	0	NA	ENST00000543473		ENSG00000111707	29545		126	1.59		HGNC	p.L242F		SUDS3		SNV							ENST00000397564	protein_coding	getma.org/?cm=var&var=hg19,12,118841242,G,T&fts=all		hmmpanther:PTHR21964,hmmpanther:PTHR21964:SF11		L/F		T	low	1035/4897		getma.org/?cm=msa&ty=f&p=SDS3_HUMAN&rb=224&re=328&var=L241F	tolerated(0.05)	Q52LB7_HUMAN,Q2M2F3_HUMAN			YES	SUDS3,missense_variant,p.Leu241Phe,ENST00000543473,NM_022491.2;SUDS3,missense_variant,p.Leu242Phe,ENST00000397564,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541280,;SUDS3,non_coding_transcript_exon_variant,,ENST00000541591,;SUDS3,upstream_gene_variant,,ENST00000360286,;							MODERATE	723/987	L241F	SDS3_HUMAN			Transcript		benign(0.125)	.	ENSP00000443988		CCDS44993.1			1	
CLCA1	0	LGGM	GRCh37	1	86959906	86959906	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	30	14	.	.	ENST00000234701.3:c.1717C>T	p.Gln573Ter	p.Q573*	ENST00000234701		573	Caa/Taa	0	1	1	UPI00001AE689	0	NA	ENST00000234701		ENSG00000016490	2015		44	0		HGNC	p.Q573X		CLCA1		SNV							ENST00000234701	protein_coding	getma.org/?cm=var&var=hg19,1,86959906,C,T&fts=all		hmmpanther:PTHR10579:SF44,hmmpanther:PTHR10579,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868		Q/*		T	NA	2068/3310		NA					YES	CLCA1,stop_gained,p.Gln573Ter,ENST00000234701,;CLCA1,stop_gained,p.Gln573Ter,ENST00000394711,NM_001285.3;							HIGH	1717/2745	Q573*	CLCA1_HUMAN			Transcript			.	ENSP00000234701		CCDS709.1			1	
GLUD1	0	LGGM	GRCh37	10	88822468	88822468	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	16	15	.	.	ENST00000277865.4:c.866A>C	p.Tyr289Ser	p.Y289S	ENST00000277865	NM_005271.3	289	tAc/tCc	0	1	1	UPI0000001C96	0	getma.org/pdb.php?prot=DHE3_HUMAN&from=263&to=477&var=Y289S	ENST00000277865		ENSG00000148672	4335		31	2.66		HGNC	p.Y289S		GLUD1		SNV			1				ENST00000277865	protein_coding	getma.org/?cm=var&var=hg19,10,88822468,T,G&fts=all		hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.50.720,Pfam_domain:PF00208,SMART_domains:SM00839,Superfamily_domains:SSF51735		Y/S		G	medium	963/3039		getma.org/?cm=msa&ty=f&p=DHE3_HUMAN&rb=263&re=477&var=Y289S	deleterious(0.01)	Q9UQV0_HUMAN,E9KL48_HUMAN,B3KV55_HUMAN			YES	GLUD1,missense_variant,p.Tyr289Ser,ENST00000277865,NM_005271.3;GLUD1,missense_variant,p.Tyr122Ser,ENST00000537649,;GLUD1,missense_variant,p.Tyr156Ser,ENST00000544149,;GLUD1,non_coding_transcript_exon_variant,,ENST00000474574,;GLUD1,upstream_gene_variant,,ENST00000465164,;GLUD1,upstream_gene_variant,,ENST00000487058,;							MODERATE	866/1677	Y289S	DHE3_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000277865		CCDS7382.1			1	
CIT	0	LGGM	GRCh37	12	120195259	120195259	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	97	15	.	.	ENST00000392521.2:c.2622A>G	p.Lys874=	p.K874=	ENST00000392521	NM_001206999.1	874	aaA/aaG	0	1		UPI00001908FD	0		ENST00000261833		ENSG00000122966	1985		112			HGNC	p.K832K		CIT		SNV							ENST00000261833	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		K		C		2549/8578								CIT,synonymous_variant,p.=,ENST00000392521,NM_001206999.1;CIT,synonymous_variant,p.=,ENST00000261833,NM_007174.2;CIT,synonymous_variant,p.=,ENST00000392520,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;							LOW	2496/6084		CTRO_HUMAN			Transcript			.	ENSP00000261833		CCDS9192.1			1	
GANAB	0	LGGM	GRCh37	11	62394824	62394824	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	24	17	.	.	ENST00000346178.4:c.2248C>G	p.Pro750Ala	p.P750A	ENST00000346178	NM_198335.3	750	Ccc/Gcc	0	1		UPI000013D62E	0	getma.org/pdb.php?prot=GANAB_HUMAN&from=364&to=810&var=P728A	ENST00000356638		ENSG00000089597	4138		41	2.545		HGNC	p.P728A		GANAB		SNV							ENST00000356638	protein_coding	getma.org/?cm=var&var=hg19,11,62394824,G,C&fts=all		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF51,Superfamily_domains:SSF51011		P/A		C	medium	2199/3608		getma.org/?cm=msa&ty=f&p=GANAB_HUMAN&rb=364&re=810&var=P728A	deleterious(0.05)	F5H6X6_HUMAN				GANAB,missense_variant,p.Pro750Ala,ENST00000346178,NM_198335.3;GANAB,missense_variant,p.Pro728Ala,ENST00000356638,NM_198334.2;GANAB,missense_variant,p.Pro631Ala,ENST00000540933,NM_001278194.1;GANAB,missense_variant,p.Pro636Ala,ENST00000534779,NM_001278193.1,NM_001278192.1;GANAB,splice_region_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000528503,;GANAB,upstream_gene_variant,,ENST00000531563,;							MODERATE	2182/2835	P728A	GANAB_HUMAN			Transcript		benign(0.434)	.	ENSP00000349053		CCDS8026.1			1	
THAP6	0	LGGM	GRCh37	4	76452305	76452305	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	14	18	.	.	ENST00000311638.3:c.550A>T	p.Arg184Trp	p.R184W	ENST00000311638	NM_144721.4	184	Agg/Tgg	0	1	1	UPI000006D12F	0	NA	ENST00000311638		ENSG00000174796	23189		32	0.55		HGNC	p.R184W		THAP6		SNV							ENST00000311638	protein_coding	getma.org/?cm=var&var=hg19,4,76452305,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23080		R/W		T	neutral	618/3549		getma.org/?cm=msa&ty=f&p=THAP6_HUMAN&rb=154&re=218&var=R184W	deleterious(0.01)	D6RJG2_HUMAN,D6RC19_HUMAN			YES	THAP6,missense_variant,p.Arg184Trp,ENST00000311638,NM_144721.4;THAP6,missense_variant,p.Arg142Trp,ENST00000380837,;THAP6,missense_variant,p.Arg184Trp,ENST00000514480,;THAP6,intron_variant,,ENST00000507556,;THAP6,intron_variant,,ENST00000504190,;THAP6,intron_variant,,ENST00000507885,;THAP6,intron_variant,,ENST00000502620,;THAP6,intron_variant,,ENST00000507557,;THAP6,downstream_gene_variant,,ENST00000508105,;							MODERATE	550/669	R184W	THAP6_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000309007		CCDS3568.1			1	
PKHD1	0	LGGM	GRCh37	6	51619726	51619726	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	51	19	.	.	ENST00000371117.3:c.8653G>T	p.Glu2885Ter	p.E2885*	ENST00000371117	NM_138694.3	2885	Gaa/Taa	0	1	1	UPI000013C4C0	0	NA	ENST00000371117		ENSG00000170927	9016		70	0		HGNC	p.E2885X		PKHD1		SNV			1				ENST00000340994	protein_coding	getma.org/?cm=var&var=hg19,6,51619726,C,A&fts=all		hmmpanther:PTHR11915:SF230,hmmpanther:PTHR11915		E/*		A	NA	8929/16282		NA					YES	PKHD1,stop_gained,p.Glu2885Ter,ENST00000371117,NM_138694.3;PKHD1,stop_gained,p.Glu2885Ter,ENST00000340994,NM_170724.2;							HIGH	8653/12225	E2885*	PKHD1_HUMAN			Transcript			.	ENSP00000360158		CCDS4935.1			1	
ZBTB38	0	LGGM	GRCh37	3	141162702	141162702	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	32	20	.	.	ENST00000514251.1:c.1472A>G	p.His491Arg	p.H491R	ENST00000514251		491	cAt/cGt	0	1		UPI0002064F68	0	getma.org/pdb.php?prot=ZBT38_HUMAN&from=483&to=502&var=H491R	ENST00000321464		ENSG00000177311	26636		52	0.345		HGNC	p.H491R		ZBTB38		SNV			1				ENST00000441582	protein_coding	getma.org/?cm=var&var=hg19,3,141162702,A,G&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF23,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/R		G	neutral	1522/3650		getma.org/?cm=msa&ty=f&p=ZBT38_HUMAN&rb=453&re=532&var=H491R	deleterious(0.01)	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				ZBTB38,missense_variant,p.His491Arg,ENST00000514251,;ZBTB38,missense_variant,p.His491Arg,ENST00000441582,;ZBTB38,missense_variant,p.His492Arg,ENST00000321464,;ZBTB38,missense_variant,p.His491Arg,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,;							MODERATE	1475/3591	H491R				Transcript		probably_damaging(0.999)	.	ENSP00000372635					1	
BBS7	0	LGGM	GRCh37	4	122756337	122756337	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092452	H092452N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	12	20	.	.	ENST00000264499.4:c.1473T>A	p.Leu491=	p.L491=	ENST00000264499	NM_176824.2	491	ctT/ctA	0	1	1	UPI00001684D7	0		ENST00000264499		ENSG00000138686	18758		32			HGNC	p.L491L	rs757900989	BBS7		SNV			1				ENST00000264499	protein_coding			hmmpanther:PTHR16074,hmmpanther:PTHR16074:SF4,PIRSF_domain:PIRSF011091		L		T		1657/3752				H0Y973_HUMAN			YES	BBS7,synonymous_variant,p.=,ENST00000264499,NM_176824.2;BBS7,synonymous_variant,p.=,ENST00000506636,NM_018190.3;	0.000116						LOW	1473/2148		BBS7_HUMAN			Transcript			.	ENSP00000264499	8.24E-06	CCDS3724.1			1	
STK16	0	LGGM	GRCh37	2	220113271	220113271	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	40	22	.	.	ENST00000409638.3:c.908C>T	p.Thr303Ile	p.T303I	ENST00000409638	NM_001008910.2	303	aCc/aTc	0	1		UPI0000035BA8	0	getma.org/pdb.php?prot=STK16_HUMAN&from=291&to=305&var=T303I	ENST00000396738		ENSG00000115661	11394		62	0		HGNC	p.T185I		STK16		SNV							ENST00000409516	protein_coding	getma.org/?cm=var&var=hg19,2,220113271,C,T&fts=all		hmmpanther:PTHR22967:SF55,hmmpanther:PTHR22967		T/I		T	neutral	1330/1673		getma.org/?cm=msa&ty=f&p=STK16_HUMAN&rb=261&re=305&var=T303I	deleterious_low_confidence(0)					STK16,missense_variant,p.Thr303Ile,ENST00000409638,NM_001008910.2;STK16,missense_variant,p.Thr303Ile,ENST00000396738,;STK16,missense_variant,p.Thr348Ile,ENST00000409260,;STK16,missense_variant,p.Thr271Ile,ENST00000409743,;STK16,missense_variant,p.Thr185Ile,ENST00000409516,;GLB1L,upstream_gene_variant,,ENST00000295759,NM_001286423.1;GLB1L,upstream_gene_variant,,ENST00000392089,NM_024506.3;TUBA4A,downstream_gene_variant,,ENST00000392088,NM_001278552.1;GLB1L,upstream_gene_variant,,ENST00000356283,NM_001286427.1;TUBA4A,downstream_gene_variant,,ENST00000248437,NM_006000.2;GLB1L,upstream_gene_variant,,ENST00000409640,NM_001286427.1;TUBA4A,downstream_gene_variant,,ENST00000427737,;GLB1L,upstream_gene_variant,,ENST00000428427,;TUBA4A,downstream_gene_variant,,ENST00000456818,;TUBA4A,downstream_gene_variant,,ENST00000447205,;TUBA4A,downstream_gene_variant,,ENST00000398989,;GLB1L,upstream_gene_variant,,ENST00000432839,;TUBA4A,downstream_gene_variant,,ENST00000425551,;GLB1L,upstream_gene_variant,,ENST00000424620,;TUBA4B,upstream_gene_variant,,ENST00000490341,;TUBA4B,upstream_gene_variant,,ENST00000485041,;TUBA4B,upstream_gene_variant,,ENST00000473885,;TUBA4A,downstream_gene_variant,,ENST00000498660,;STK16,downstream_gene_variant,,ENST00000486813,;STK16,non_coding_transcript_exon_variant,,ENST00000496443,;STK16,non_coding_transcript_exon_variant,,ENST00000478018,;STK16,downstream_gene_variant,,ENST00000475696,;STK16,downstream_gene_variant,,ENST00000496800,;STK16,downstream_gene_variant,,ENST00000475342,;TUBA4A,downstream_gene_variant,,ENST00000462806,;TUBA4A,downstream_gene_variant,,ENST00000475683,;GLB1L,upstream_gene_variant,,ENST00000447002,;STK16,downstream_gene_variant,,ENST00000491697,;GLB1L,upstream_gene_variant,,ENST00000467548,;STK16,downstream_gene_variant,,ENST00000461417,;							MODERATE	908/918	T303I	STK16_HUMAN			Transcript		benign(0.287)	.	ENSP00000379964		CCDS42822.1			1	
WDR52	0	LGGM	GRCh37	3	113027052	113027052	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	28	24	.	.	ENST00000393845.2:c.4580A>G	p.Glu1527Gly	p.E1527G	ENST00000393845	NM_001164496.1	1527	gAg/gGg	0	1	1	UPI0000367198	0	NA	ENST00000393845		ENSG00000206530	25631		52	1.845		HGNC	p.E130G		WDR52		SNV							ENST00000308346	protein_coding	getma.org/?cm=var&var=hg19,3,113027052,T,C&fts=all		Low_complexity_(Seg):seg		E/G		C	low	4647/10259		getma.org/?cm=msa&ty=f&p=F8W806_HUMAN&rb=1&re=200&var=E130G	tolerated(0.09)	C9K0A4_HUMAN			YES	WDR52,missense_variant,p.Glu1527Gly,ENST00000393845,NM_001164496.1;WDR52,missense_variant,p.Glu664Gly,ENST00000465636,;WDR52,missense_variant,p.Glu130Gly,ENST00000308346,;WDR52,missense_variant,p.Glu148Gly,ENST00000461734,;WDR52,upstream_gene_variant,,ENST00000489244,;WDR52,upstream_gene_variant,,ENST00000465510,;							MODERATE	4580/5565	E130G	WDR52_HUMAN			Transcript		benign(0.009)	.	ENSP00000377428		CCDS54624.1			1	
HIVEP3	0	LGGM	GRCh37	1	42041333	42041333	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	9	25	.	.	ENST00000372583.1:c.5089G>T	p.Glu1697Ter	p.E1697*	ENST00000372583	NM_024503.4	1697	Gaa/Taa	0	1		UPI000013CC24	0	NA	ENST00000247584		ENSG00000127124	13561		34	0		HGNC	p.E1697X		HIVEP3		SNV							ENST00000372583	protein_coding	getma.org/?cm=var&var=hg19,1,42041333,C,A&fts=all		hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233		E/*		A	NA	5895/8465		NA						HIVEP3,stop_gained,p.Glu1697Ter,ENST00000372584,NM_001127714.2;HIVEP3,stop_gained,p.Glu1697Ter,ENST00000372583,NM_024503.4;HIVEP3,stop_gained,p.Glu1697Ter,ENST00000247584,;HIVEP3,stop_gained,p.Glu1697Ter,ENST00000429157,;HIVEP3,non_coding_transcript_exon_variant,,ENST00000460604,;							HIGH	5089/7221	E1697*	ZEP3_HUMAN			Transcript			.	ENSP00000247584		CCDS463.1			1	
TRIOBP	0	LGGM	GRCh37	22	38120753	38120753	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	89	26	.	.	ENST00000406386.3:c.2190C>A	p.Pro730=	p.P730=	ENST00000406386	NM_001039141.2	730	ccC/ccA	0	1	1	UPI000067CB88	0		ENST00000406386		ENSG00000100106	17009		115			HGNC	p.P730P		TRIOBP		SNV			1				ENST00000406386	protein_coding					P		A		2445/10129				F6WYE2_HUMAN,F6WMF4_HUMAN			YES	TRIOBP,synonymous_variant,p.=,ENST00000406386,NM_001039141.2;NOL12,3_prime_UTR_variant,,ENST00000455236,;TRIOBP,3_prime_UTR_variant,,ENST00000344404,;TRIOBP,non_coding_transcript_exon_variant,,ENST00000492485,;							LOW	2190/7098		TARA_HUMAN			Transcript			.	ENSP00000384312		CCDS43015.1			1	
HSF1	0	LGGM	GRCh37	8	145533200	145533200	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	29	28	.	.	ENST00000528838.1:c.286G>T	p.Asp96Tyr	p.D96Y	ENST00000528838	NM_005526.2	96	Gac/Tac	0	1	1	UPI0000000DE5	0	getma.org/pdb.php?prot=HSF1_HUMAN&from=17&to=122&var=D96Y	ENST00000528838		ENSG00000185122	5224		57	0.84		HGNC	p.D96Y		HSF1		SNV							ENST00000528838	protein_coding	getma.org/?cm=var&var=hg19,8,145533200,G,T&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00447,hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF142,SMART_domains:SM00415,Superfamily_domains:SSF46785		D/Y		T	low	446/2142		getma.org/?cm=msa&ty=f&p=HSF1_HUMAN&rb=17&re=122&var=D96Y	deleterious(0)	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN			YES	HSF1,missense_variant,p.Asp96Tyr,ENST00000528838,NM_005526.2;HSF1,missense_variant,p.Asp31Tyr,ENST00000400780,;HSF1,missense_variant,p.Asp31Tyr,ENST00000533240,;HSF1,non_coding_transcript_exon_variant,,ENST00000528988,;HSF1,non_coding_transcript_exon_variant,,ENST00000534314,;HSF1,non_coding_transcript_exon_variant,,ENST00000528199,;HSF1,non_coding_transcript_exon_variant,,ENST00000529630,;HSF1,upstream_gene_variant,,ENST00000528842,;HSF1,upstream_gene_variant,,ENST00000530661,;HSF1,upstream_gene_variant,,ENST00000533130,;HSF1,upstream_gene_variant,,ENST00000531447,;HSF1,non_coding_transcript_exon_variant,,ENST00000532338,;HSF1,upstream_gene_variant,,ENST00000527328,;							MODERATE	286/1590	D96Y	HSF1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000431512		CCDS6419.1			1	
CCDC39	0	LGGM	GRCh37	3	180366148	180366148	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	72	29	.	.	ENST00000442201.2:c.1168-1G>A		p.X390_splice	ENST00000442201	NM_181426.1			0	1	1	UPI00015D7298	0		ENST00000442201		ENSG00000145075	25244		101			HGNC	-	rs771629166	CCDC39		SNV			1				ENST00000476379	protein_coding							T		-/3279	1.55E-05						YES	CCDC39,splice_acceptor_variant,,ENST00000273654,;CCDC39,splice_acceptor_variant,,ENST00000442201,NM_181426.1;CCDC39,splice_acceptor_variant,,ENST00000476379,;							HIGH	1168/2826		CCD39_HUMAN			Transcript			.	ENSP00000405708	8.29E-06	CCDS46964.1			1	
SERPINB4	0	LGGM	GRCh37	18	61310695	61310695	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	32	31	.	.	ENST00000341074.5:c.117G>C	p.Gly39=	p.G39=	ENST00000341074	NM_002974.2	39	ggG/ggC	0	1	1	UPI0000038A1A	0		ENST00000341074		ENSG00000206073	10570		63			HGNC	p.G39G		SERPINB4		SNV							ENST00000341074	protein_coding			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		G		G		233/1749							YES	SERPINB4,synonymous_variant,p.=,ENST00000341074,NM_002974.2;SERPINB4,synonymous_variant,p.=,ENST00000356424,;SERPINB4,synonymous_variant,p.=,ENST00000413673,;SERPINB4,synonymous_variant,p.=,ENST00000436264,;SERPINB11,upstream_gene_variant,,ENST00000489748,;SERPINB4,non_coding_transcript_exon_variant,,ENST00000498496,;							LOW	117/1173		SPB4_HUMAN			Transcript			.	ENSP00000343445		CCDS11986.1			1	
STX6	0	LGGM	GRCh37	1	180945762	180945762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	39	34	.	.	ENST00000258301.5:c.712A>G	p.Ile238Val	p.I238V	ENST00000258301	NM_005819.4	238	Ata/Gta	0	1	1	UPI00000490D6	0	getma.org/pdb.php?prot=STX6_HUMAN&from=231&to=255&var=I238V	ENST00000258301		ENSG00000135823	11441		73	3.045		HGNC	p.I238V		STX6		SNV							ENST00000258301	protein_coding	getma.org/?cm=var&var=hg19,1,180945762,T,C&fts=all		hmmpanther:PTHR12380,hmmpanther:PTHR12380:SF35,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I/V		C	medium	950/4851		getma.org/?cm=msa&ty=f&p=STX6_HUMAN&rb=201&re=255&var=I238V	deleterious(0.02)	B4DR17_HUMAN			YES	STX6,missense_variant,p.Ile238Val,ENST00000258301,NM_005819.4;STX6,missense_variant,p.Ile137Val,ENST00000542060,NM_001286210.1;AL162431.1,intron_variant,,ENST00000457152,;RP11-46A10.5,upstream_gene_variant,,ENST00000358073,;STX6,non_coding_transcript_exon_variant,,ENST00000469135,;							MODERATE	712/768	I238V	STX6_HUMAN			Transcript		benign(0.035)	.	ENSP00000258301		CCDS1341.1			1	
ANKRD30B	0	LGGM	GRCh37	18	14757814	14757814	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	128	36	.	.	ENST00000358984.4:c.618C>T	p.Cys206=	p.C206=	ENST00000358984	NM_001145029.1	206	tgC/tgT	0	1	1	UPI0000425FF7	0		ENST00000358984		ENSG00000180777	24165		164			HGNC	p.C206C		ANKRD30B		SNV							ENST00000447268	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403		C		T		798/4359							YES	ANKRD30B,splice_region_variant,p.=,ENST00000358984,NM_001145029.1;ANKRD30B,splice_region_variant,p.=,ENST00000447268,;RNU6-1210P,upstream_gene_variant,,ENST00000363775,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,splice_region_variant,p.=,ENST00000580206,;							LOW	618/4179		AN30B_HUMAN			Transcript			.	ENSP00000351875		CCDS54182.1			1	
CASP5	0	LGGM	GRCh37	11	104877885	104877885	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	63	36	.	.	ENST00000393141.2:c.397C>T	p.Arg133Ter	p.R133*	ENST00000393141	NM_004347.3	133	Cga/Tga	0	1		UPI0001824643	0	NA	ENST00000260315		ENSG00000137757	1506		99	0		HGNC	p.R120X		CASP5		SNV							ENST00000260315	protein_coding	getma.org/?cm=var&var=hg19,11,104877885,G,A&fts=all		PROSITE_profiles:PS50209,hmmpanther:PTHR10454:SF137,hmmpanther:PTHR10454,Gene3D:1.10.533.10,Pfam_domain:PF00619,SMART_domains:SM00114,PIRSF_domain:PIRSF038001,Superfamily_domains:SSF47986		R/*		A	NA	358/1414		NA		C9JF14_HUMAN				CASP5,stop_gained,p.Arg133Ter,ENST00000393141,NM_004347.3,NM_001136112.1;CASP5,stop_gained,p.Arg120Ter,ENST00000260315,;CASP5,stop_gained,p.Arg87Ter,ENST00000393139,;CASP5,stop_gained,p.Arg133Ter,ENST00000526056,;CASP5,stop_gained,p.Arg62Ter,ENST00000444749,NM_001136109.1;CASP5,stop_gained,p.Arg104Ter,ENST00000456094,;CASP5,intron_variant,,ENST00000418434,NM_001136110.1;CASP5,intron_variant,,ENST00000531367,;CASP5,stop_gained,p.Arg62Ter,ENST00000456200,;							HIGH	358/1305	R120*	CASP5_HUMAN			Transcript			.	ENSP00000260315		CCDS8328.2			1	
WDR54	0	LGGM	GRCh37	2	74652760	74652760	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092452	H092452N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	40	37	.	.	ENST00000348227.4:c.937T>A	p.Ser313Thr	p.S313T	ENST00000348227	NM_032118.2	313	Tcc/Acc	0	1	1	UPI0000070D06	0	NA	ENST00000348227		ENSG00000005448	25770		77	-0.345		HGNC	p.S313T		WDR54		SNV							ENST00000348227	protein_coding	getma.org/?cm=var&var=hg19,2,74652760,T,A&fts=all		Superfamily_domains:SSF50978,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF150		S/T		A	neutral	1025/1147		getma.org/?cm=msa&ty=f&p=WDR54_HUMAN&rb=281&re=334&var=S313T	tolerated(0.17)				YES	WDR54,missense_variant,p.Ser313Thr,ENST00000348227,NM_032118.2;WDR54,splice_region_variant,,ENST00000409791,;RTKN,downstream_gene_variant,,ENST00000305557,NM_033046.2;RTKN,downstream_gene_variant,,ENST00000233330,NM_001015056.1;RTKN,downstream_gene_variant,,ENST00000272430,NM_001015055.1;C2orf81,upstream_gene_variant,,ENST00000518863,;WDR54,downstream_gene_variant,,ENST00000426787,;WDR54,non_coding_transcript_exon_variant,,ENST00000469321,;WDR54,downstream_gene_variant,,ENST00000461531,;RTKN,downstream_gene_variant,,ENST00000479256,;WDR54,non_coding_transcript_exon_variant,,ENST00000468778,;WDR54,non_coding_transcript_exon_variant,,ENST00000465134,;WDR54,non_coding_transcript_exon_variant,,ENST00000480089,;WDR54,non_coding_transcript_exon_variant,,ENST00000482605,;WDR54,downstream_gene_variant,,ENST00000482880,;RTKN,downstream_gene_variant,,ENST00000492013,;WDR54,downstream_gene_variant,,ENST00000493982,;WDR54,downstream_gene_variant,,ENST00000469932,;WDR54,downstream_gene_variant,,ENST00000475328,;RTKN,downstream_gene_variant,,ENST00000469859,;							MODERATE	937/1005	S313T	WDR54_HUMAN			Transcript		benign(0.001)	.	ENSP00000006526		CCDS1940.1			1	
THBS1	0	LGGM	GRCh37	15	39885850	39885850	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092452	H092452N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	61	42	.	.	ENST00000260356.5:c.3248C>A	p.Thr1083Lys	p.T1083K	ENST00000260356	NM_003246.2	1083	aCa/aAa	0	1	1	UPI00001FE219	0	getma.org/pdb.php?prot=TSP1_HUMAN&from=972&to=1170&var=T1083K	ENST00000260356		ENSG00000137801	11785		103	2.095		HGNC	p.T1083K		THBS1		SNV							ENST00000260356	protein_coding	getma.org/?cm=var&var=hg19,15,39885850,C,A&fts=all		PROSITE_profiles:PS51236,hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,Gene3D:2.60.120.200,Pfam_domain:PF05735,Superfamily_domains:SSF49899		T/K		A	medium	3413/7775		getma.org/?cm=msa&ty=f&p=TSP1_HUMAN&rb=972&re=1170&var=T1083K	deleterious(0.01)	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,missense_variant,p.Thr1083Lys,ENST00000260356,NM_003246.2;CTD-2033D15.1,non_coding_transcript_exon_variant,,ENST00000560769,;THBS1,non_coding_transcript_exon_variant,,ENST00000484734,;THBS1,upstream_gene_variant,,ENST00000559746,;THBS1,downstream_gene_variant,,ENST00000560894,;THBS1,downstream_gene_variant,,ENST00000497720,;THBS1,downstream_gene_variant,,ENST00000490247,;							MODERATE	3248/3513	T1083K	TSP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000260356		CCDS32194.1			1	
PCDHB2	0	LGGM	GRCh37	5	140476730	140476730	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	86	44	.	.	ENST00000194155.4:c.2356G>A	p.Glu786Lys	p.E786K	ENST00000194155	NM_018936.2	786	Gag/Aag	0	1	1	UPI00001273DC	0	NA	ENST00000194155		ENSG00000112852	8687		130	1.395		HGNC	p.E786K		PCDHB2		SNV							ENST00000194155	protein_coding	getma.org/?cm=var&var=hg19,5,140476730,G,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF77		E/K		A	low	2504/2736		getma.org/?cm=msa&ty=f&p=PCDB2_HUMAN&rb=666&re=798&var=E786K	tolerated_low_confidence(0.17)				YES	PCDHB2,missense_variant,p.Glu786Lys,ENST00000194155,NM_018936.2;PCDHB3,upstream_gene_variant,,ENST00000231130,NM_018937.2;AC005754.7,downstream_gene_variant,,ENST00000607216,;							MODERATE	2356/2397	E786K	PCDB2_HUMAN			Transcript		benign(0.021)	.	ENSP00000194155		CCDS4244.1			1	
WIPF3	0	LGGM	GRCh37	7	29928944	29928944	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	66	46	.	.	ENST00000409290.1:c.1272G>A	p.Thr424=	p.T424=	ENST00000409290	NM_001080529.2	424	acG/acA	0	1		UPI00006C0B78	0		ENST00000242140		ENSG00000122574	22004		112			HGNC	p.T424T	rs571269176,COSM746255	WIPF3	0.000314	SNV						0,1	ENST00000409290	protein_coding		A:0	hmmpanther:PTHR23202,hmmpanther:PTHR23202:SF31		T		A		1272/3241	1.51E-05				A:0	A:0		WIPF3,synonymous_variant,p.=,ENST00000409290,NM_001080529.2;WIPF3,synonymous_variant,p.=,ENST00000409123,;WIPF3,synonymous_variant,p.=,ENST00000242140,;		A:0.0002			0,1		LOW	1272/1452				A:0	Transcript			.	ENSP00000242140	4.96E-05			A:0.001	1	
IGHV3-16	0	LGGM	GRCh37	14	106621954	106621954	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	73	50	.	.	ENST00000390604.2:c.291C>A	p.Ser97=	p.S97=	ENST00000390604		97	tcC/tcA	0	1	1	UPI000011AADA	0		ENST00000390604		ENSG00000211944	5583		123			HGNC	p.S97S		IGHV3-16		SNV							ENST00000390604	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF80,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		S		T		365/425							YES	IGHV3-16,synonymous_variant,p.=,ENST00000390604,;IGHVII-15-1,upstream_gene_variant,,ENST00000517931,;							LOW	291/351					Transcript			.	ENSP00000375013					1	
IGHV3-16	0	LGGM	GRCh37	14	106621953	106621953	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	73	50	.	.	ENST00000390604.2:c.292C>T	p.Leu98=	p.L98=	ENST00000390604		98	Ctg/Ttg	0	1	1	UPI000011AADA	0		ENST00000390604		ENSG00000211944	5583		123			HGNC	p.L98L		IGHV3-16		SNV							ENST00000390604	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF80,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		L		A		366/425							YES	IGHV3-16,synonymous_variant,p.=,ENST00000390604,;IGHVII-15-1,upstream_gene_variant,,ENST00000517931,;							LOW	292/351					Transcript			.	ENSP00000375013					1	
AHNAK2	0	LGGM	GRCh37	14	105419323	105419323	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092452	H092452N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092452N.bam, H092452T.bam	Illumina HiSeq	144	104	.	.	ENST00000333244.5:c.2465C>A	p.Ala822Asp	p.A822D	ENST00000333244	NM_138420.2	822	gCc/gAc	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		248	2.3		HGNC	p.A822D		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105419323,G,T&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		A/D		T	medium	2585/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=801&re=1000&var=A822D					YES	AHNAK2,missense_variant,p.Ala822Asp,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	2465/17388	A822D	AHNK2_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000353114		CCDS45177.1			1	
SCNN1A	0	LGGM	GRCh37	12	6472662	6472662	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	5	2	.	.	ENST00000360168.3:c.808C>T	p.Arg270Trp	p.R270W	ENST00000360168	NM_001159576.1	270	Cgg/Tgg	0	1		UPI0000000DC4	0	NA	ENST00000228916		ENSG00000111319	10599		7	2.125		HGNC	p.R234W		SCNN1A		SNV			1				ENST00000543768	protein_coding	getma.org/?cm=var&var=hg19,12,6472662,G,A&fts=all		hmmpanther:PTHR11690:SF124,hmmpanther:PTHR11690,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859		R/W		A	medium	730/3135		getma.org/?cm=msa&ty=f&p=SCNNA_HUMAN&rb=62&re=573&var=R211W	deleterious(0.02)	F5GXE6_HUMAN				SCNN1A,missense_variant,p.Arg211Trp,ENST00000358945,;SCNN1A,missense_variant,p.Arg270Trp,ENST00000360168,NM_001159576.1;SCNN1A,missense_variant,p.Arg211Trp,ENST00000228916,NM_001038.5;SCNN1A,missense_variant,p.Arg234Trp,ENST00000543768,NM_001159575.1;SCNN1A,missense_variant,p.Arg211Trp,ENST00000396966,;SCNN1A,5_prime_UTR_variant,,ENST00000540037,;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542966,;SCNN1A,intron_variant,,ENST00000538979,;SCNN1A,downstream_gene_variant,,ENST00000544882,;SCNN1A,downstream_gene_variant,,ENST00000536176,;SCNN1A,upstream_gene_variant,,ENST00000541249,;SCNN1A,missense_variant,p.Arg211Trp,ENST00000338748,;							MODERATE	631/2010	R211W	SCNNA_HUMAN			Transcript		benign(0.022)	.	ENSP00000228916		CCDS8543.1			1	
ASPG	0	LGGM	GRCh37	14	104573576	104573576	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	13	2	.	.	ENST00000551177.1:c.1327C>A	p.Arg443=	p.R443=	ENST00000551177	NM_001080464.2	443	Cgg/Agg	0	1	1	UPI00001D7B76	0		ENST00000551177		ENSG00000166183	20123		15			HGNC	p.R4R		ASPG		SNV							ENST00000550583	protein_coding			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR11707:SF3,hmmpanther:PTHR11707,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415		R		A		1419/2031							YES	ASPG,synonymous_variant,p.=,ENST00000551177,NM_001080464.2;ASPG,synonymous_variant,p.=,ENST00000455920,;ASPG,synonymous_variant,p.=,ENST00000546892,;ASPG,synonymous_variant,p.=,ENST00000550583,;ASPG,downstream_gene_variant,,ENST00000551170,;ASPG,downstream_gene_variant,,ENST00000549809,;ASPG,downstream_gene_variant,,ENST00000552126,;ASPG,downstream_gene_variant,,ENST00000556267,;ASPG,downstream_gene_variant,,ENST00000548372,;ASPG,upstream_gene_variant,,ENST00000551871,;							LOW	1327/1722		LPP60_HUMAN			Transcript			.	ENSP00000450040		CCDS45170.2			1	
COL3A1	0	LGGM	GRCh37	2	189872813	189872813	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	20	2	.	.	ENST00000304636.3:c.3470C>G	p.Pro1157Arg	p.P1157R	ENST00000304636	NM_000090.3	1157	cCa/cGa	0	1	1	UPI0000456EBA	0	getma.org/pdb.php?prot=CO3A1_HUMAN&from=1137&to=1196&var=P1157R	ENST00000304636		ENSG00000168542	2201		22	2.15		HGNC	p.P1157R		COL3A1		SNV			1				ENST00000304636	protein_coding	getma.org/?cm=var&var=hg19,2,189872813,C,G&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF415		P/R		G	medium	3640/5543		getma.org/?cm=msa&ty=f&p=CO3A1_HUMAN&rb=1137&re=1196&var=P1157R		Q6LBY7_HUMAN,D2JYH5_HUMAN			YES	COL3A1,missense_variant,p.Pro1157Arg,ENST00000304636,NM_000090.3;COL3A1,missense_variant,p.Pro854Arg,ENST00000317840,;COL3A1,upstream_gene_variant,,ENST00000487010,;COL3A1,downstream_gene_variant,,ENST00000467886,;							MODERATE	3470/4401	P1157R	CO3A1_HUMAN			Transcript		unknown(0)	.	ENSP00000304408		CCDS2297.1			1	
CCDC22	0	LGGM	GRCh37	X	49105359	49105359	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	6	2	.	.	ENST00000376227.3:c.1513C>A	p.Arg505=	p.R505=	ENST00000376227	NM_014008.3	505	Cgg/Agg	0	1	1	UPI000006FFC7	0		ENST00000376227		ENSG00000101997	28909		8			HGNC	p.R505R		CCDC22		SNV			1				ENST00000376227	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15668,Pfam_domain:PF05667		R		A		1683/2319							YES	CCDC22,synonymous_variant,p.=,ENST00000376227,NM_014008.3;FOXP3,downstream_gene_variant,,ENST00000376207,NM_014009.3;FOXP3,downstream_gene_variant,,ENST00000376199,NM_001114377.1;FOXP3,downstream_gene_variant,,ENST00000557224,;FOXP3,downstream_gene_variant,,ENST00000376197,;FOXP3,downstream_gene_variant,,ENST00000455775,;FOXP3,downstream_gene_variant,,ENST00000518685,;							LOW	1513/1884		CCD22_HUMAN			Transcript			.	ENSP00000365401		CCDS14322.1			1	
DCHS2	0	LGGM	GRCh37	4	155250690	155250690	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	6	2	.	.	ENST00000357232.4:c.2538G>T	p.Lys846Asn	p.K846N	ENST00000357232	NM_017639.3	846	aaG/aaT	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=844&to=960&var=K846N	ENST00000357232		ENSG00000197410	23111		8	0.92		HGNC	p.K846N		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155250690,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		K/N		A	low	2538/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=844&re=960&var=K846N	deleterious(0.05)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Lys846Asn,ENST00000357232,NM_017639.3;DCHS2,missense_variant,p.Lys1301Asn,ENST00000339452,NM_001142552.1;DCHS2,downstream_gene_variant,,ENST00000507542,;DCHS2,downstream_gene_variant,,ENST00000504580,;							MODERATE	2538/8751	K846N	PCD23_HUMAN			Transcript		benign(0.08)	.	ENSP00000349768		CCDS3785.1			1	
SBF1	0	LGGM	GRCh37	22	50906280	50906280	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	8	2	.	.	ENST00000380817.3:c.214G>T	p.Asp72Tyr	p.D72Y	ENST00000380817	NM_002972.2	72	Gac/Tac	0	1	1	UPI00001D69ED	0	NA	ENST00000380817		ENSG00000100241	10542		10	2.52		HGNC	p.D72Y		SBF1		SNV			1				ENST00000380817	protein_coding	getma.org/?cm=var&var=hg19,22,50906280,C,A&fts=all		PROSITE_profiles:PS50946,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF43,Pfam_domain:PF03456,SMART_domains:SM00800		D/Y		A	medium	398/8008		getma.org/?cm=msa&ty=f&p=MTMR5_HUMAN&rb=24&re=86&var=D72Y	deleterious(0.03)	Q86TK5_HUMAN			YES	SBF1,missense_variant,p.Asp72Tyr,ENST00000380817,NM_002972.2;SBF1,missense_variant,p.Asp72Tyr,ENST00000348911,;SBF1,missense_variant,p.Asp72Tyr,ENST00000390679,;SBF1,non_coding_transcript_exon_variant,,ENST00000399627,;SBF1,upstream_gene_variant,,ENST00000477234,;							MODERATE	214/5682	D72Y	MTMR5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370196		CCDS14091.2			1	
KRI1	0	LGGM	GRCh37	19	10676521	10676521	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	2	2	.	.	ENST00000312962.6:c.113-55G>T		*38*	ENST00000312962	NM_023008.3			0	1	1	UPI0000246DCC	0		ENST00000312962		ENSG00000129347	25769		4			HGNC	p.V16F		KRI1		SNV							ENST00000361821	protein_coding							A		-/3016							YES	KRI1,missense_variant,p.Val16Phe,ENST00000361821,;KRI1,intron_variant,,ENST00000312962,NM_023008.3;KRI1,intron_variant,,ENST00000539027,;KRI1,intron_variant,,ENST00000543682,;CDKN2D,downstream_gene_variant,,ENST00000393599,NM_001800.3,NM_079421.2;CDKN2D,downstream_gene_variant,,ENST00000335766,;KRI1,intron_variant,,ENST00000537964,;KRI1,intron_variant,,ENST00000536689,;KRI1,intron_variant,,ENST00000478863,;KRI1,intron_variant,,ENST00000432197,;KRI1,intron_variant,,ENST00000546063,;KRI1,intron_variant,,ENST00000544397,;							MODIFIER	-/2130		KRI1_HUMAN			Transcript			.	ENSP00000320917		CCDS12242.1			1	
GNB1	0	LGGM	GRCh37	1	1722030	1722030	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	11	2	.	.	ENST00000378609.4:c.503T>C	p.Leu168Pro	p.L168P	ENST00000378609	NM_002074.3	168	cTg/cCg	0	1	1	UPI00000230B3	0	getma.org/pdb.php?prot=GBB1_HUMAN&from=134&to=170&var=L168P	ENST00000378609		ENSG00000078369	4396		13	3.44		HGNC	p.L68P		GNB1		SNV							ENST00000455156	protein_coding	getma.org/?cm=var&var=hg19,1,1722030,A,G&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF002394,SMART_domains:SM00320,Superfamily_domains:SSF50978,Prints_domain:PR00320		L/P		G	medium	835/3128		getma.org/?cm=msa&ty=f&p=GBB1_HUMAN&rb=134&re=170&var=L168P	deleterious(0)	Q71UM7_HUMAN,Q71UM6_HUMAN,F6UT28_HUMAN,B3KVK2_HUMAN,B1AKQ8_HUMAN			YES	GNB1,missense_variant,p.Leu168Pro,ENST00000378609,NM_002074.3,NM_001282539.1;GNB1,missense_variant,p.Leu155Pro,ENST00000439272,;GNB1,downstream_gene_variant,,ENST00000434686,;GNB1,non_coding_transcript_exon_variant,,ENST00000461893,;GNB1,non_coding_transcript_exon_variant,,ENST00000471354,;							MODERATE	503/1023	L168P	GBB1_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000367872		CCDS34.1			1	
NACAD	0	LGGM	GRCh37	7	45122790	45122790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	8	2	.	.	ENST00000490531.2:c.2989C>A	p.Gln997Lys	p.Q997K	ENST00000490531	NM_001146334.1	997	Cag/Aag	0	1	1	UPI00001D747D	0	NA	ENST00000490531		ENSG00000136274	22196		10	1.1		HGNC	p.Q997K		NACAD		SNV							ENST00000490531	protein_coding	getma.org/?cm=var&var=hg19,7,45122790,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21713:SF1,hmmpanther:PTHR21713		Q/K		T	low	3009/4780		getma.org/?cm=msa&ty=f&p=NACAD_HUMAN&rb=418&re=1042&var=Q997K	tolerated(0.07)				YES	NACAD,missense_variant,p.Gln997Lys,ENST00000490531,NM_001146334.1;NACAD,upstream_gene_variant,,ENST00000460409,;							MODERATE	2989/4689	Q997K	NACAD_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000420477		CCDS47582.1			1	
ARHGEF19	0	LGGM	GRCh37	1	16535234	16535234	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	5	2	.	.	ENST00000270747.3:c.316C>A	p.Pro106Thr	p.P106T	ENST00000270747	NM_153213.3	106	Cct/Act	0	1	1	UPI0000074533	0	NA	ENST00000270747		ENSG00000142632	26604		7	0.345		HGNC	p.P106T		ARHGEF19		SNV							ENST00000421561	protein_coding	getma.org/?cm=var&var=hg19,1,16535234,G,T&fts=all		hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF6		P/T		T	neutral	453/3029		getma.org/?cm=msa&ty=f&p=ARHGJ_HUMAN&rb=1&re=200&var=P106T	tolerated_low_confidence(0.05)				YES	ARHGEF19,missense_variant,p.Pro106Thr,ENST00000270747,NM_153213.3;ARHGEF19,upstream_gene_variant,,ENST00000449495,;ARHGEF19,upstream_gene_variant,,ENST00000441785,;ARHGEF19,upstream_gene_variant,,ENST00000478117,;ARHGEF19,upstream_gene_variant,,ENST00000478210,;ARHGEF19,upstream_gene_variant,,ENST00000471928,;							MODERATE	316/2409	P106T	ARHGJ_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000270747		CCDS170.1			1	
SMPD3	0	LGGM	GRCh37	16	68395173	68395173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	3	2	.	.	ENST00000219334.5:c.1904G>A	p.Gly635Asp	p.G635D	ENST00000219334	NM_018667.3	635	gGc/gAc	0	1	1	UPI0000037769	0	NA	ENST00000219334		ENSG00000103056	14240		5	2.34		HGNC	p.G618D	COSM1679211	SMPD3		SNV						1	ENST00000568373	protein_coding	getma.org/?cm=var&var=hg19,16,68395173,C,T&fts=all		hmmpanther:PTHR16320:SF5,hmmpanther:PTHR16320,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219		G/D		T	medium	2508/5450		getma.org/?cm=msa&ty=f&p=NSMA2_HUMAN&rb=325&re=639&var=G635D	deleterious(0)	H3BTM0_HUMAN,D6Q0F1_HUMAN,C8CHW6_HUMAN			YES	SMPD3,missense_variant,p.Gly635Asp,ENST00000219334,NM_018667.3;SMPD3,missense_variant,p.Gly627Asp,ENST00000563226,;SMPD3,missense_variant,p.Gly618Asp,ENST00000568373,;SMPD3,3_prime_UTR_variant,,ENST00000574662,;PRMT7,downstream_gene_variant,,ENST00000339507,;PRMT7,downstream_gene_variant,,ENST00000441236,;PRMT7,downstream_gene_variant,,ENST00000348497,;PRMT7,downstream_gene_variant,,ENST00000449359,NM_019023.2,NM_001184824.1;SMPD3,downstream_gene_variant,,ENST00000566009,;PRMT7,downstream_gene_variant,,ENST00000567542,;PRMT7,downstream_gene_variant,,ENST00000568975,;PRMT7,downstream_gene_variant,,ENST00000568463,;PRMT7,downstream_gene_variant,,ENST00000563608,;SMPD3,downstream_gene_variant,,ENST00000563396,;SMPD3,downstream_gene_variant,,ENST00000567811,;SMPD3,downstream_gene_variant,,ENST00000567223,;					1		MODERATE	1904/1968	G635D	NSMA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219334		CCDS10867.1			1	
JUNB	0	LGGM	GRCh37	19	12903441	12903441	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	5	2	.	.	ENST00000302754.4:c.856C>A	p.Arg286=	p.R286=	ENST00000302754	NM_002229.2	286	Cgg/Agg	0	1	1	UPI000012DACF	0		ENST00000302754		ENSG00000171223	6205		7			HGNC	p.R286R		JUNB		SNV							ENST00000302754	protein_coding			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR11462,hmmpanther:PTHR11462:SF37,PROSITE_patterns:PS00036,Pfam_domain:PF00170,Gene3D:1.10.880.10,SMART_domains:SM00338,Superfamily_domains:SSF47454,Prints_domain:PR00043		R		A		1132/1815				Q5U079_HUMAN			YES	JUNB,synonymous_variant,p.=,ENST00000302754,NM_002229.2;PRDX2,downstream_gene_variant,,ENST00000301522,NM_005809.5;PRDX2,downstream_gene_variant,,ENST00000334482,;CTD-2659N19.10,upstream_gene_variant,,ENST00000585496,;HOOK2,intron_variant,,ENST00000589765,;PRDX2,downstream_gene_variant,,ENST00000466174,;HOOK2,upstream_gene_variant,,ENST00000593143,;							LOW	856/1044		JUNB_HUMAN			Transcript			.	ENSP00000303315		CCDS12280.1			1	
DCBLD1	0	LGGM	GRCh37	6	117860543	117860543	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	38	3	.	.	ENST00000296955.8:c.1101+1G>A		p.X367_splice	ENST00000296955	NM_173674.1			0	1		UPI000021D1F9	0		ENST00000338728		ENSG00000164465	21479		41			HGNC	-		DCBLD1		SNV							ENST00000296955	protein_coding							A		-/3626				Q68DD5_HUMAN				DCBLD1,splice_donor_variant,,ENST00000338728,;DCBLD1,splice_donor_variant,,ENST00000296955,NM_173674.1;DCBLD1,intron_variant,,ENST00000368503,;DCBLD1,splice_donor_variant,,ENST00000534777,;GOPC,intron_variant,,ENST00000467125,;DCBLD1,upstream_gene_variant,,ENST00000487076,;DCBLD1,upstream_gene_variant,,ENST00000478345,;DCBLD1,splice_donor_variant,,ENST00000424717,;DCBLD1,non_coding_transcript_exon_variant,,ENST00000533453,;							HIGH	1101/2148		DCBD1_HUMAN			Transcript			.	ENSP00000342422					1	
MEGF10	0	LGGM	GRCh37	5	126734412	126734412	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	36	3	.	.	ENST00000274473.6:c.704A>T	p.Glu235Val	p.E235V	ENST00000274473	NM_032446.2	235	gAg/gTg	0	1	1	UPI000006F868	0	getma.org/pdb.php?prot=MEG10_HUMAN&from=230&to=265&var=E235V	ENST00000274473		ENSG00000145794	29634		39	2.36		HGNC	p.E235V		MEGF10		SNV			1				ENST00000418761	protein_coding	getma.org/?cm=var&var=hg19,5,126734412,A,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75,Gene3D:2gy5A03,SMART_domains:SM00181		E/V		T	medium	971/7594		getma.org/?cm=msa&ty=f&p=MEG10_HUMAN&rb=230&re=265&var=E235V	tolerated(0.05)				YES	MEGF10,missense_variant,p.Glu235Val,ENST00000274473,NM_032446.2;MEGF10,missense_variant,p.Glu235Val,ENST00000503335,NM_001256545.1;MEGF10,missense_variant,p.Glu235Val,ENST00000508365,;MEGF10,missense_variant,p.Glu235Val,ENST00000418761,;							MODERATE	704/3423	E235V	MEG10_HUMAN			Transcript		benign(0.01)	.	ENSP00000274473		CCDS4142.1			1	
LPIN2	0	LGGM	GRCh37	18	2922131	2922131	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	11	3	.	.	ENST00000261596.4:c.2241C>T	p.Tyr747=	p.Y747=	ENST00000261596	NM_014646.2	747	taC/taT	0	1	1	UPI000012E865	0		ENST00000261596		ENSG00000101577	14450		14			HGNC	p.Y747Y		LPIN2		SNV			1				ENST00000261596	protein_coding			hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11,Gene3D:3.40.50.1000,Pfam_domain:PF08235,SMART_domains:SM00775,Superfamily_domains:SSF56784		Y		A		2480/6229				J3KTK1_HUMAN			YES	LPIN2,synonymous_variant,p.=,ENST00000261596,NM_014646.2;RP11-737O24.5,downstream_gene_variant,,ENST00000608032,;							LOW	2241/2691		LPIN2_HUMAN			Transcript			.	ENSP00000261596		CCDS11829.1			1	
SETD1A	0	LGGM	GRCh37	16	30977464	30977464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	13	3	.	.	ENST00000262519.8:c.2262G>T	p.Met754Ile	p.M754I	ENST00000262519	NM_014712.1	754	atG/atT	0	1	1	UPI00001C1FA9	0	NA	ENST00000262519		ENSG00000099381	29010		16	0.69		HGNC	p.M754I		SETD1A		SNV							ENST00000262519	protein_coding	getma.org/?cm=var&var=hg19,16,30977464,G,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295		M/I		T	neutral	2948/6903		getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=567&re=766&var=M754I		C9J2Z9_HUMAN			YES	SETD1A,missense_variant,p.Met754Ile,ENST00000262519,NM_014712.1;SETD1A,downstream_gene_variant,,ENST00000452917,;							MODERATE	2262/5124	M754I	SET1A_HUMAN			Transcript		benign(0)	.	ENSP00000262519		CCDS32435.1			1	
TBC1D3C	0	LGGM	GRCh37	17	34590437	34590437	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	29	3	.	.	ENST00000457979.3:c.18C>A	p.Val6=	p.V6=	ENST00000457979	NM_001001418.4	6	gtC/gtA	0	1	1	UPI0000D62308	0		ENST00000457979		ENSG00000234972	24889		32			HGNC	p.V6V	COSM392878	TBC1D3C		SNV						1	ENST00000336331	protein_coding			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF233		V		T		168/2115				K7EPE3_HUMAN,K7EIT9_HUMAN			YES	TBC1D3C,synonymous_variant,p.=,ENST00000336331,;TBC1D3C,synonymous_variant,p.=,ENST00000457979,NM_001001418.4;TBC1D3H,intron_variant,,ENST00000535446,;TBC1D3C,intron_variant,,ENST00000451448,;TBC1D3C,intron_variant,,ENST00000308078,;TBC1D3H,intron_variant,,ENST00000400684,;TBC1D3C,upstream_gene_variant,,ENST00000591555,;TBC1D3C,downstream_gene_variant,,ENST00000588590,;TBC1D3C,non_coding_transcript_exon_variant,,ENST00000398688,;TBC1D3C,non_coding_transcript_exon_variant,,ENST00000585570,;					1		LOW	18/1650		TBC3C_HUMAN			Transcript			.	ENSP00000390761		CCDS11309.2			1	
ALDH9A1	0	LGGM	GRCh37	1	165652278	165652278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	45	3	.	.	ENST00000354775.4:c.397G>T	p.Asp133Tyr	p.D133Y	ENST00000354775	NM_000696.3	133	Gac/Tac	0	1	1	UPI00003E07DD	0	getma.org/pdb.php?prot=AL9A1_HUMAN&from=21&to=483&var=D109Y	ENST00000354775		ENSG00000143149	412		48	3.545		HGNC	p.D133Y		ALDH9A1		SNV							ENST00000354775	protein_coding	getma.org/?cm=var&var=hg19,1,165652278,C,A&fts=all		Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF126,Superfamily_domains:SSF53720		D/Y		A	high	702/2696		getma.org/?cm=msa&ty=f&p=AL9A1_HUMAN&rb=21&re=483&var=D109Y	deleterious(0)	B9EKV4_HUMAN,B4DXY7_HUMAN,B4DX14_HUMAN,B4DE91_HUMAN			YES	ALDH9A1,missense_variant,p.Asp133Tyr,ENST00000354775,NM_000696.3;ALDH9A1,missense_variant,p.Asp39Tyr,ENST00000538148,;ALDH9A1,non_coding_transcript_exon_variant,,ENST00000461664,;ALDH9A1,upstream_gene_variant,,ENST00000491436,;ALDH9A1,non_coding_transcript_exon_variant,,ENST00000471457,;							MODERATE	397/1557	D109Y	AL9A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346827		CCDS1250.2			1	
RAD51AP2	0	LGGM	GRCh37	2	17697804	17697804	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	23	3	.	.	ENST00000399080.2:c.1879G>T	p.Ala627Ser	p.A627S	ENST00000399080	NM_001099218.2	627	Gca/Tca	0	1	1	UPI0000418FD4	0	NA	ENST00000399080		ENSG00000214842	34417		26	0		HGNC	p.A627S	rs777061609	RAD51AP2	0.000229	SNV							ENST00000399080	protein_coding	getma.org/?cm=var&var=hg19,2,17697804,C,A&fts=all				A/S		A	neutral	1903/3724	2.71E-05	getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=A627S	tolerated(0.13)				YES	RAD51AP2,missense_variant,p.Ala627Ser,ENST00000399080,NM_001099218.2;							MODERATE	1879/3480	A627S	R51A2_HUMAN			Transcript		benign(0.019)	.	ENSP00000382030	4.98E-05	CCDS42656.1			1	
MICAL3	0	LGGM	GRCh37	22	18300153	18300153	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	13	3	.	.	ENST00000441493.2:c.5274G>T	p.Lys1758Asn	p.K1758N	ENST00000441493	NM_015241.2	1758	aaG/aaT	0	1	1	UPI0001823FDE	0	NA	ENST00000441493		ENSG00000243156	24694		16	0.975		HGNC	p.K13N		MICAL3		SNV							ENST00000579997	protein_coding	getma.org/?cm=var&var=hg19,22,18300153,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218,Low_complexity_(Seg):seg		K/N		A	low	5627/9445		getma.org/?cm=msa&ty=f&p=MICA3_HUMAN&rb=1650&re=1847&var=K1758N		C9J922_HUMAN,A8K0E1_HUMAN			YES	MICAL3,missense_variant,p.Lys1758Asn,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Lys35Asn,ENST00000577821,;MICAL3,missense_variant,p.Lys13Asn,ENST00000579997,;MICAL3,downstream_gene_variant,,ENST00000498573,;MICAL3,downstream_gene_variant,,ENST00000578984,;MICAL3,upstream_gene_variant,,ENST00000580469,;							MODERATE	5274/6009	K1758N	MICA3_HUMAN			Transcript		benign(0.193)	.	ENSP00000416015		CCDS46659.1			1	
GRN	0	LGGM	GRCh37	17	42430146	42430146	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	10	3	.	.	ENST00000053867.3:c.1762G>T	p.Ala588Ser	p.A588S	ENST00000053867	NM_002087.2	588	Gcc/Tcc	0	1	1	UPI00000015E0	0	getma.org/pdb.php?prot=GRN_HUMAN&from=575&to=593&var=A588S	ENST00000053867		ENSG00000030582	4601	8.78E-05	13	2.33		HGNC	p.A431S	rs747731138	GRN	6.10E-05	SNV			1	0.00123			ENST00000589265	protein_coding	getma.org/?cm=var&var=hg19,17,42430146,G,T&fts=all		hmmpanther:PTHR12274		A/S		T	medium	1824/2148	0.000466	getma.org/?cm=msa&ty=f&p=GRN_HUMAN&rb=545&re=593&var=A588S	deleterious(0.05)	K7EQK6_HUMAN,K7EQA7_HUMAN,K7ENN1_HUMAN,K7ENI2_HUMAN,K7EM89_HUMAN,K7ELY1_HUMAN,K7EK92_HUMAN,K7EJY4_HUMAN			YES	GRN,missense_variant,p.Ala588Ser,ENST00000053867,NM_002087.2;GRN,missense_variant,p.Ala431Ser,ENST00000589265,;GRN,3_prime_UTR_variant,,ENST00000586443,;GRN,3_prime_UTR_variant,,ENST00000586242,;FAM171A2,downstream_gene_variant,,ENST00000293443,NM_198475.2;GRN,downstream_gene_variant,,ENST00000593167,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000585512,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000589923,;FAM171A2,downstream_gene_variant,,ENST00000589407,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000586782,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000588170,;GRN,downstream_gene_variant,,ENST00000590984,;GRN,downstream_gene_variant,,ENST00000587958,;GRN,downstream_gene_variant,,ENST00000592323,;	0.000357						MODERATE	1762/1782	A588S	GRN_HUMAN	0.000825		Transcript		benign(0.057)	common_variant	ENSP00000053867	0.000642	CCDS11483.1	0.00233		1	
EPHA1	0	LGGM	GRCh37	7	143095525	143095525	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	31	3	.	.	ENST00000275815.3:c.1353G>T	p.Leu451=	p.L451=	ENST00000275815	NM_005232.4	451	ctG/ctT	0	1	1	UPI000013DA82	0		ENST00000275815		ENSG00000146904	3385		34			HGNC	p.L451L		EPHA1		SNV							ENST00000275815	protein_coding			Superfamily_domains:SSF49265,PIRSF_domain:PIRSF000666,SMART_domains:SM00060,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF28,PROSITE_profiles:PS50853		L		A		1440/3363							YES	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,;							LOW	1353/2931		EPHA1_HUMAN			Transcript			.	ENSP00000275815		CCDS5884.1			1	
MTL5	0	LGGM	GRCh37	11	68517737	68517737	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	2	4	.	.	ENST00000255087.5:c.392C>T	p.Ala131Val	p.A131V	ENST00000255087	NM_004923.3	131	gCg/gTg	0	1	1	UPI00001FAE07	0	NA	ENST00000255087		ENSG00000132749	7446		6	0		HGNC	p.A131V		MTL5		SNV							ENST00000255087	protein_coding	getma.org/?cm=var&var=hg19,11,68517737,G,A&fts=all		hmmpanther:PTHR12446:SF20,hmmpanther:PTHR12446		A/V		A	neutral	576/2579		getma.org/?cm=msa&ty=f&p=MTL5_HUMAN&rb=1&re=300&var=A131V	deleterious(0.02)				YES	MTL5,missense_variant,p.Ala131Val,ENST00000443940,;MTL5,missense_variant,p.Ala131Val,ENST00000255087,NM_004923.3;MTL5,missense_variant,p.Ala131Val,ENST00000544963,NM_001039656.1;CPT1A,downstream_gene_variant,,ENST00000265641,NM_001876.3;CPT1A,downstream_gene_variant,,ENST00000376618,NM_001031847.2;CPT1A,downstream_gene_variant,,ENST00000540367,;MTL5,non_coding_transcript_exon_variant,,ENST00000432435,;MTL5,upstream_gene_variant,,ENST00000540869,;MTL5,upstream_gene_variant,,ENST00000538944,;							MODERATE	392/1527	A131V	MTL5_HUMAN			Transcript		benign(0.068)	.	ENSP00000255087		CCDS8184.1			1	
PCDH7	0	LGGM	GRCh37	4	31144121	31144121	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	89	4	.	.	ENST00000543491.1:c.3418C>G	p.Leu1140Val	p.L1140V	ENST00000543491		1140	Ctg/Gtg	0	1	1	UPI0001CB27C3	0	NA	ENST00000543491		ENSG00000169851	8659		93	0.55		HGNC	p.L1140V		PCDH7		SNV							ENST00000543491	protein_coding	getma.org/?cm=var&var=hg19,4,31144121,C,G&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14		L/V		G	neutral	3418/3768		getma.org/?cm=msa&ty=f&p=F5GWJ1_HUMAN&rb=1001&re=1200&var=L1140V	tolerated(0.07)	F5GWJ1_HUMAN			YES	PCDH7,missense_variant,p.Leu822Val,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,missense_variant,p.Leu1140Val,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509759,;							MODERATE	3418/3768	L1140V				Transcript		benign(0.335)	.	ENSP00000441802		CCDS54753.1			1	
SEMA4C	0	LGGM	GRCh37	2	97526895	97526895	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	7	4	.	.	ENST00000305476.5:c.1970C>T	p.Ala657Val	p.A657V	ENST00000305476	NM_017789.4	657	gCc/gTc	0	1	1	UPI00001A7981	0	NA	ENST00000305476		ENSG00000168758	10731		11	0.695		HGNC	p.A657V	rs561361401	SEMA4C	6.11E-05	SNV							ENST00000305476	protein_coding	getma.org/?cm=var&var=hg19,2,97526895,G,A&fts=all	T:0	hmmpanther:PTHR11036:SF16,hmmpanther:PTHR11036		A/V		A	neutral	2103/3545		getma.org/?cm=msa&ty=f&p=SEM4C_HUMAN&rb=590&re=789&var=A657V	deleterious(0.02)	Q8NBN9_HUMAN,Q6P5A5_HUMAN,Q53RE7_HUMAN,C9JV89_HUMAN,C9J4M7_HUMAN	T:0	T:0.001	YES	SEMA4C,missense_variant,p.Ala657Val,ENST00000305476,NM_017789.4;ANKRD39,upstream_gene_variant,,ENST00000393537,NM_016466.5;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;ANKRD23,upstream_gene_variant,,ENST00000462692,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000482925,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000467747,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000474420,;ANKRD39,upstream_gene_variant,,ENST00000443120,;		T:0.0002					MODERATE	1970/2502	A657V	SEM4C_HUMAN		T:0	Transcript		probably_damaging(0.914)	.	ENSP00000306844	8.28E-06	CCDS2029.1		T:0	1	
ZNF251	0	LGGM	GRCh37	8	145979652	145979652	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	5	4	.	.	ENST00000292562.7:c.88C>T	p.Arg30Trp	p.R30W	ENST00000292562	NM_138367.1	30	Cgg/Tgg	0	1	1	UPI0000160D9A	0	getma.org/pdb.php?prot=ZN251_HUMAN&from=15&to=55&var=R30W	ENST00000292562		ENSG00000198169	13045		9	1.865		HGNC	p.R30W		ZNF251		SNV							ENST00000292562	protein_coding	getma.org/?cm=var&var=hg19,8,145979652,G,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF202,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		R/W		A	low	364/2807		getma.org/?cm=msa&ty=f&p=ZN251_HUMAN&rb=15&re=55&var=R30W	deleterious(0.02)				YES	ZNF251,missense_variant,p.Arg30Trp,ENST00000292562,NM_138367.1;ZNF251,missense_variant,p.Arg68Trp,ENST00000525191,;ZNF251,non_coding_transcript_exon_variant,,ENST00000524394,;ZNF251,non_coding_transcript_exon_variant,,ENST00000530353,;							MODERATE	88/2016	R30W	ZN251_HUMAN			Transcript		benign(0.03)	.	ENSP00000292562		CCDS47944.1			1	
MCC	0	LGGM	GRCh37	5	112384799	112384799	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	53	4	.	.	ENST00000408903.3:c.2646A>C	p.Lys882Asn	p.K882N	ENST00000408903	NM_001085377.1	882	aaA/aaC	0	1		UPI000013E7E1	0	NA	ENST00000302475		ENSG00000171444	6935		57	0		HGNC	p.K629N		MCC		SNV							ENST00000515367	protein_coding	getma.org/?cm=var&var=hg19,5,112384799,T,G&fts=all		hmmpanther:PTHR23347:SF4,hmmpanther:PTHR23347		K/N		G	neutral	2640/8257		getma.org/?cm=msa&ty=f&p=CRCM_HUMAN&rb=668&re=730&var=K692N	tolerated(0.41)	D6REY2_HUMAN				MCC,missense_variant,p.Lys692Asn,ENST00000302475,NM_002387.2;MCC,missense_variant,p.Lys629Asn,ENST00000515367,;MCC,missense_variant,p.Lys882Asn,ENST00000408903,NM_001085377.1;MCC,non_coding_transcript_exon_variant,,ENST00000514701,;							MODERATE	2076/2490	K692N	CRCM_HUMAN			Transcript		benign(0.011)	.	ENSP00000305617		CCDS4111.1			1	
SRRT	0	LGGM	GRCh37	7	100479035	100479035	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	7	5	.	.	ENST00000347433.4:c.251+1G>C		p.X84_splice	ENST00000347433				0	1	1	UPI0000126098	0		ENST00000347433		ENSG00000087087	24101		12			HGNC	-		SRRT		SNV							ENST00000388793	protein_coding							C		-/2904							YES	SRRT,splice_donor_variant,,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,splice_donor_variant,,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,splice_donor_variant,,ENST00000347433,;SRRT,splice_donor_variant,,ENST00000432932,;SRRT,splice_donor_variant,,ENST00000431645,;SRRT,upstream_gene_variant,,ENST00000448764,;SRRT,splice_donor_variant,,ENST00000448716,;SRRT,upstream_gene_variant,,ENST00000423692,;SRRT,upstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000449389,;SRRT,upstream_gene_variant,,ENST00000466432,;							HIGH	251/2631		SRRT_HUMAN			Transcript			.	ENSP00000314491		CCDS34709.1			1	
LRRC53	0	LGGM	GRCh37	1	74946499	74946499	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	11	5	.	.	ENST00000294635.4:c.242C>G	p.Thr81Arg	p.T81R	ENST00000294635		81	aCg/aGg	0	1	1	UPI000178DEDE	0		ENST00000294635		ENSG00000162621	25255		16			HGNC	p.T81R		LRRC53		SNV							ENST00000416014	protein_coding			Gene3D:3.80.10.10,hmmpanther:PTHR24365,Low_complexity_(Seg):seg,SMART_domains:SM00369,Superfamily_domains:SSF52058		T/R		C		357/3859			tolerated(0.41)				YES	LRRC53,missense_variant,p.Thr81Arg,ENST00000294635,;LRRC53,missense_variant,p.Thr81Arg,ENST00000416014,;TNNI3K,intron_variant,,ENST00000370891,NM_001112808.2;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,;							MODERATE	242/3744		LRC53_HUMAN			Transcript		benign(0.009)	.	ENSP00000294635					1	
CDK2	0	LGGM	GRCh37	12	56360829	56360829	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	11	5	.	.	ENST00000266970.4:c.37G>C	p.Gly13Arg	p.G13R	ENST00000266970	NM_001798.3	13	Ggc/Cgc	0	1	1	UPI00001105FA	0	getma.org/pdb.php?prot=CDK2_HUMAN&from=4&to=286&var=G13R	ENST00000266970		ENSG00000123374	1771		16	3.895		HGNC	p.G13R		CDK2		SNV							ENST00000555357	protein_coding	getma.org/?cm=var&var=hg19,12,56360829,G,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF168,PROSITE_patterns:PS00107,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/R		C	high	277/2296		getma.org/?cm=msa&ty=f&p=CDK2_HUMAN&rb=4&re=286&var=G13R	deleterious(0)	G3V317_HUMAN			YES	CDK2,missense_variant,p.Gly13Arg,ENST00000266970,NM_001798.3;CDK2,missense_variant,p.Gly13Arg,ENST00000553376,;CDK2,missense_variant,p.Gly13Arg,ENST00000354056,NM_052827.2;CDK2,missense_variant,p.Gly13Arg,ENST00000440311,;PMEL,intron_variant,,ENST00000549233,;PMEL,upstream_gene_variant,,ENST00000548747,;PMEL,upstream_gene_variant,,ENST00000552882,;PMEL,upstream_gene_variant,,ENST00000548493,;PMEL,upstream_gene_variant,,ENST00000360714,NM_006928.4;PMEL,upstream_gene_variant,,ENST00000449260,NM_001200054.1;PMEL,upstream_gene_variant,,ENST00000536427,;PMEL,upstream_gene_variant,,ENST00000539511,;PMEL,upstream_gene_variant,,ENST00000550464,NM_001200053.1;PMEL,upstream_gene_variant,,ENST00000547137,;PMEL,upstream_gene_variant,,ENST00000546543,;PMEL,upstream_gene_variant,,ENST00000550447,;PMEL,upstream_gene_variant,,ENST00000548803,;PMEL,upstream_gene_variant,,ENST00000549418,;RP11-973D8.4,non_coding_transcript_exon_variant,,ENST00000554022,;CDK2,non_coding_transcript_exon_variant,,ENST00000556464,;CDK2,upstream_gene_variant,,ENST00000556656,;CDK2,upstream_gene_variant,,ENST00000556146,;CDK2,upstream_gene_variant,,ENST00000556276,;PMEL,upstream_gene_variant,,ENST00000548689,;CDK2,upstream_gene_variant,,ENST00000554545,;CDK2,missense_variant,p.Gly13Arg,ENST00000555408,;CDK2,missense_variant,p.Gly13Arg,ENST00000555357,;CDK2,non_coding_transcript_exon_variant,,ENST00000554619,;PMEL,upstream_gene_variant,,ENST00000550590,;PMEL,upstream_gene_variant,,ENST00000549430,;PMEL,upstream_gene_variant,,ENST00000549413,;							MODERATE	37/897	G13R	CDK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266970		CCDS8898.1			1	
WDR45	0	LGGM	GRCh37	X	48933633	48933633	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	7	5	.	.	ENST00000356463.3:c.440-29C>T		*147*	ENST00000356463	NM_007075.3			0	1		UPI0000071006	0		ENST00000376372		ENSG00000196998	28912		12			HGNC	p.A147A		WDR45		SNV			1				ENST00000322995	protein_coding							A		-/1626				C9J7Q8_HUMAN				WDR45,synonymous_variant,p.=,ENST00000322995,;WDR45,synonymous_variant,p.=,ENST00000465382,;WDR45,synonymous_variant,p.=,ENST00000476728,;WDR45,intron_variant,,ENST00000356463,NM_007075.3;WDR45,intron_variant,,ENST00000376372,NM_001029896.1;WDR45,intron_variant,,ENST00000376368,;WDR45,intron_variant,,ENST00000485908,;WDR45,intron_variant,,ENST00000396681,;WDR45,intron_variant,,ENST00000553851,;AF196779.12,intron_variant,,ENST00000376358,;WDR45,intron_variant,,ENST00000473974,;WDR45,intron_variant,,ENST00000367375,;WDR45,intron_variant,,ENST00000474053,;WDR45,intron_variant,,ENST00000475880,;WDR45,intron_variant,,ENST00000419567,;WDR45,intron_variant,,ENST00000471338,;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,;WDR45,downstream_gene_variant,,ENST00000465431,;WDR45,downstream_gene_variant,,ENST00000460501,;PRAF2,upstream_gene_variant,,ENST00000491199,;WDR45,intron_variant,,ENST00000465806,;WDR45,intron_variant,,ENST00000472654,;WDR45,upstream_gene_variant,,ENST00000433252,;WDR45,downstream_gene_variant,,ENST00000496803,;WDR45,downstream_gene_variant,,ENST00000376357,;WDR45,upstream_gene_variant,,ENST00000480412,;							MODIFIER	-/1083		WIPI4_HUMAN			Transcript			.	ENSP00000365551		CCDS35250.1			1	
PRMT3	0	LGGM	GRCh37	11	20429533	20429533	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	54	5	.	.	ENST00000331079.6:c.848G>A	p.Gly283Glu	p.G283E	ENST00000331079	NM_005788.3	283	gGa/gAa	0	1	1	UPI0000198DED	0	getma.org/pdb.php?prot=ANM3_HUMAN&from=248&to=347&var=G283E	ENST00000331079		ENSG00000185238	30163		59	3.015		HGNC	p.G283E		PRMT3		SNV							ENST00000331079	protein_coding	getma.org/?cm=var&var=hg19,11,20429533,G,A&fts=all		PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF45,hmmpanther:PTHR11006,Gene3D:3.40.50.150,Pfam_domain:PF06325,Superfamily_domains:SSF53335		G/E		A	medium	1065/2653		getma.org/?cm=msa&ty=f&p=ANM3_HUMAN&rb=248&re=347&var=G283E					YES	PRMT3,missense_variant,p.Gly283Glu,ENST00000331079,NM_005788.3,NM_001145167.1;PRMT3,missense_variant,p.Gly221Glu,ENST00000437750,NM_001145166.1;PRMT3,3_prime_UTR_variant,,ENST00000330796,;PRMT3,non_coding_transcript_exon_variant,,ENST00000529592,;							MODERATE	848/1596	G283E	ANM3_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000331879		CCDS7853.1			1	
AGBL5	0	LGGM	GRCh37	2	27279601	27279601	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	105	5	.	.	ENST00000360131.4:c.1476C>T	p.Gly492=	p.G492=	ENST00000360131	NM_021831.5	492	ggC/ggT	0	1	1	UPI000006FE54	0		ENST00000360131		ENSG00000084693	26147		110			HGNC	p.G492G		AGBL5		SNV							ENST00000487078	protein_coding			hmmpanther:PTHR12756,Gene3D:3.40.630.10,Superfamily_domains:SSF53187		G		T		1635/3177				C9JTY1_HUMAN,C9JQG9_HUMAN,C9JHM6_HUMAN,C9JCE1_HUMAN			YES	AGBL5,synonymous_variant,p.=,ENST00000360131,NM_021831.5;AGBL5,synonymous_variant,p.=,ENST00000323064,NM_001035507.2;AGBL5,downstream_gene_variant,,ENST00000453161,;AGBL5,downstream_gene_variant,,ENST00000451003,;AGBL5,downstream_gene_variant,,ENST00000421915,;AGBL5,downstream_gene_variant,,ENST00000437006,;AGBL5,upstream_gene_variant,,ENST00000441931,;RP11-503P10.1,upstream_gene_variant,,ENST00000607407,;AGBL5-IT1,upstream_gene_variant,,ENST00000411862,;AGBL5,synonymous_variant,p.=,ENST00000487078,;AGBL5,non_coding_transcript_exon_variant,,ENST00000477136,;AGBL5,downstream_gene_variant,,ENST00000489683,;							LOW	1476/2661		CBPC5_HUMAN			Transcript			.	ENSP00000353249		CCDS1732.3			1	
MYO16	0	LGGM	GRCh37	13	109507854	109507854	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	12	6	.	.	ENST00000356711.2:c.1246A>G	p.Ser416Gly	p.S416G	ENST00000356711	NM_015011.1	416	Agc/Ggc	0	1	1	UPI0000160FF2	0	getma.org/pdb.php?prot=MYO16_HUMAN&from=403&to=1133&var=S416G	ENST00000356711		ENSG00000041515	29822		18	1.545		HGNC	p.S416G		MYO16		SNV							ENST00000251041	protein_coding	getma.org/?cm=var&var=hg19,13,109507854,A,G&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF345,SMART_domains:SM00242,Superfamily_domains:SSF52540		S/G		G	low	1372/6874		getma.org/?cm=msa&ty=f&p=MYO16_HUMAN&rb=403&re=1133&var=S416G	tolerated(0.07)				YES	MYO16,missense_variant,p.Ser416Gly,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Ser416Gly,ENST00000357550,NM_001198950.1;MYO16,missense_variant,p.Ser416Gly,ENST00000251041,;MYO16,non_coding_transcript_exon_variant,,ENST00000482793,;MYO16,non_coding_transcript_exon_variant,,ENST00000375857,;							MODERATE	1246/5577	S416G	MYO16_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000349145		CCDS32008.1			1	
CD200R1L	0	LGGM	GRCh37	3	112546403	112546403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	62	6	.	.	ENST00000398214.1:c.241T>C	p.Tyr81His	p.Y81H	ENST00000398214	NM_001008784.2	81	Tac/Cac	0	1	1	UPI000042263C	0	NA	ENST00000398214		ENSG00000206531	24665		68	2.02		HGNC	p.Y60H		CD200R1L		SNV							ENST00000448932	protein_coding	getma.org/?cm=var&var=hg19,3,112546403,A,G&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR21462,hmmpanther:PTHR21462:SF3		Y/H		G	medium	467/1296		getma.org/?cm=msa&ty=f&p=MO2R2_HUMAN&rb=46&re=132&var=Y81H	tolerated(0.13)				YES	CD200R1L,missense_variant,p.Tyr60His,ENST00000488794,;CD200R1L,missense_variant,p.Tyr60His,ENST00000448932,NM_001199215.1;CD200R1L,missense_variant,p.Tyr81His,ENST00000398214,NM_001008784.2;CD200R1L,3_prime_UTR_variant,,ENST00000486723,;							MODERATE	241/816	Y81H	MO2R2_HUMAN			Transcript		possibly_damaging(0.677)	.	ENSP00000381272		CCDS43131.1			1	
RUFY2	0	LGGM	GRCh37	10	70123389	70123389	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	10	7	.	.	ENST00000388768.2:c.1613A>C	p.Glu538Ala	p.E538A	ENST00000388768	NM_017987.4	538	gAa/gCa	0	1	1	UPI000046FD20	0	NA	ENST00000388768		ENSG00000204130	19761		17	1.915		HGNC	p.E538A		RUFY2		SNV							ENST00000388768	protein_coding	getma.org/?cm=var&var=hg19,10,70123389,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF104		E/A		G	medium	1940/4512		getma.org/?cm=msa&ty=f&p=RUFY2_HUMAN&rb=421&re=579&var=E552A	deleterious(0.01)				YES	RUFY2,missense_variant,p.Glu538Ala,ENST00000388768,NM_017987.4;RUFY2,missense_variant,p.Glu503Ala,ENST00000602465,;RUFY2,missense_variant,p.Glu93Ala,ENST00000265865,;RUFY2,missense_variant,p.Glu34Ala,ENST00000463210,;RUFY2,non_coding_transcript_exon_variant,,ENST00000484083,;RUFY2,missense_variant,p.Glu517Ala,ENST00000466493,;							MODERATE	1613/1926	E552A	RUFY2_HUMAN			Transcript		benign(0.197)	.	ENSP00000373420		CCDS41534.1			1	
TMPRSS15	0	LGGM	GRCh37	21	19775923	19775923	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	29	7	.	.	ENST00000284885.3:c.17G>T	p.Gly6Val	p.G6V	ENST00000284885	NM_002772.2	6	gGc/gTc	0	1	1	UPI000013DDBE	0	NA	ENST00000284885		ENSG00000154646	9490		36	0		HGNC	p.G6V		TMPRSS15		SNV			1				ENST00000284885	protein_coding	getma.org/?cm=var&var=hg19,21,19775923,C,A&fts=all				G/V		A	neutral	51/3947		getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=1&re=53&var=G6V	deleterious(0.02)	Q9NR95_HUMAN			YES	TMPRSS15,missense_variant,p.Gly6Val,ENST00000284885,NM_002772.2;TMPRSS15,intron_variant,,ENST00000422787,;TMPRSS15,intron_variant,,ENST00000474775,;							MODERATE	17/3060	G6V	ENTK_HUMAN			Transcript		benign(0.003)	.	ENSP00000284885		CCDS13571.1			1	
PHF2	0	LGGM	GRCh37	9	96415484	96415484	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	10	8	.	.	ENST00000359246.4:c.626C>T	p.Pro209Leu	p.P209L	ENST00000359246	NM_005392.3	209	cCt/cTt	0	1	1	UPI0000211A97	0	getma.org/pdb.php?prot=PHF2_HUMAN&from=197&to=353&var=P209L	ENST00000359246		ENSG00000197724	8920		18	3.79		HGNC	p.P209L		PHF2		SNV							ENST00000359246	protein_coding	getma.org/?cm=var&var=hg19,9,96415484,C,T&fts=all		PROSITE_profiles:PS51184,hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF14,Gene3D:1vrbA01,SMART_domains:SM00558,Superfamily_domains:SSF51197		P/L		T	high	993/5565		getma.org/?cm=msa&ty=f&p=PHF2_HUMAN&rb=197&re=353&var=P209L	deleterious(0)				YES	PHF2,missense_variant,p.Pro209Leu,ENST00000359246,NM_005392.3;PHF2,intron_variant,,ENST00000375376,;							MODERATE	626/3291	P209L	PHF2_HUMAN			Transcript		unknown(0)	.	ENSP00000352185		CCDS35069.1			1	
CATSPER3	0	LGGM	GRCh37	5	134343652	134343652	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	27	8	.	.	ENST00000282611.6:c.498G>A	p.Leu166=	p.L166=	ENST00000282611	NM_178019.2	166	ctG/ctA	0	1	1	UPI0000034D60	0		ENST00000282611		ENSG00000152705	20819		35			HGNC	p.L166L		CATSPER3		SNV							ENST00000282611	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF197,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324		L		A		584/1362							YES	CATSPER3,synonymous_variant,p.=,ENST00000282611,NM_178019.2;PCBD2,downstream_gene_variant,,ENST00000504352,;							LOW	498/1197		CTSR3_HUMAN			Transcript			.	ENSP00000282611		CCDS4181.1			1	
UBR2	0	LGGM	GRCh37	6	42627485	42627485	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	141	9	.	.	ENST00000372899.1:c.3334C>G	p.Gln1112Glu	p.Q1112E	ENST00000372899	NM_015255.2	1112	Caa/Gaa	0	1	1	UPI0000074466	0	NA	ENST00000372899		ENSG00000024048	21289		150	2.9		HGNC	p.Q1112E		UBR2		SNV							ENST00000372901	protein_coding	getma.org/?cm=var&var=hg19,6,42627485,C,G&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF28,Gene3D:3.30.40.10		Q/E		G	medium	3592/7857		getma.org/?cm=msa&ty=f&p=UBR2_HUMAN&rb=1103&re=1302&var=Q1112E	deleterious(0)	B3KXG6_HUMAN			YES	UBR2,missense_variant,p.Gln1112Glu,ENST00000372901,;UBR2,missense_variant,p.Gln1112Glu,ENST00000372899,NM_015255.2;UBR2,3_prime_UTR_variant,,ENST00000372883,;RNU6-890P,upstream_gene_variant,,ENST00000384121,;							MODERATE	3334/5268	Q1112E	UBR2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000361990		CCDS4870.1			1	
OR2L8	0	LGGM	GRCh37	1	248112986	248112986	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	59	9	.	.	ENST00000357191.3:c.827T>A	p.Phe276Tyr	p.F276Y	ENST00000357191	NM_001001963.1	276	tTc/tAc	0	1	1	UPI0000061E5D	0	NA	ENST00000357191		ENSG00000196936	15014		68	3.84		HGNC	p.F276Y		OR2L8		SNV							ENST00000357191	protein_coding	getma.org/?cm=var&var=hg19,1,248112986,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		F/Y		A	high	827/939		getma.org/?cm=msa&ty=f&p=OR2L8_HUMAN&rb=138&re=282&var=F276Y	deleterious(0)				YES	OR2L8,missense_variant,p.Phe276Tyr,ENST00000357191,NM_001001963.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	827/939	F276Y	OR2L8_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000349719		CCDS31101.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102481508	102481508	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	24	9	.	.	ENST00000360184.4:c.7081A>G	p.Met2361Val	p.M2361V	ENST00000360184	NM_001376.4	2361	Atg/Gtg	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=2360&to=2557&var=M2361V	ENST00000360184		ENSG00000197102	2961		33	2.02		HGNC	p.M2361V		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102481508,A,G&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		M/V		G	medium	7245/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=2360&re=2557&var=M2361V		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Met2361Val,ENST00000360184,NM_001376.4;DYNC1H1,upstream_gene_variant,,ENST00000555204,;							MODERATE	7081/13941	M2361V	DYHC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000348965		CCDS9966.1			1	
ETFB	0	LGGM	GRCh37	19	51850224	51850224	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	4	10	.	.	ENST00000354232.4:c.800A>T	p.Lys267Met	p.K267M	ENST00000354232	NM_001014763.1	267	aAg/aTg	0	1		UPI0000001BC9	0	getma.org/pdb.php?prot=ETFB_HUMAN&from=26&to=190&var=K176M	ENST00000309244		ENSG00000105379	3482		14	2.845		HGNC	p.K176M		ETFB		SNV			1				ENST00000309244	protein_coding	getma.org/?cm=var&var=hg19,19,51850224,T,A&fts=all		Gene3D:3.40.50.620,Pfam_domain:PF01012,PIRSF_domain:PIRSF000090,PROSITE_patterns:PS01065,hmmpanther:PTHR21294,SMART_domains:SM00893,Superfamily_domains:SSF52402		K/M		A	medium	619/900		getma.org/?cm=msa&ty=f&p=ETFB_HUMAN&rb=26&re=190&var=K176M	deleterious(0)					ETFB,missense_variant,p.Lys267Met,ENST00000354232,NM_001014763.1;ETFB,missense_variant,p.Lys176Met,ENST00000309244,NM_001985.2;ETFB,missense_variant,p.Lys123Met,ENST00000596253,;VSIG10L,upstream_gene_variant,,ENST00000335624,NM_001163922.1;CTD-2616J11.9,intron_variant,,ENST00000600974,;CTD-2616J11.16,downstream_gene_variant,,ENST00000601148,;CTD-2616J11.16,downstream_gene_variant,,ENST00000594311,;ETFB,non_coding_transcript_exon_variant,,ENST00000594361,;ETFB,downstream_gene_variant,,ENST00000593992,;CTD-2616J11.11,downstream_gene_variant,,ENST00000600067,;							MODERATE	527/768	K176M	ETFB_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000311930		CCDS12828.1			1	
LRIT1	0	LGGM	GRCh37	10	85991801	85991801	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	7	10	.	.	ENST00000372105.3:c.1754A>G	p.Glu585Gly	p.E585G	ENST00000372105	NM_015613.2	585	gAg/gGg	0	1	1	UPI000006F66C	0	NA	ENST00000372105		ENSG00000148602	23404		17	2.31		HGNC	p.E585G		LRIT1		SNV							ENST00000372105	protein_coding	getma.org/?cm=var&var=hg19,10,85991801,T,C&fts=all		hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367		E/G		C	medium	1776/2228		getma.org/?cm=msa&ty=f&p=LRIT1_HUMAN&rb=503&re=623&var=E585G	deleterious(0.03)				YES	LRIT1,missense_variant,p.Glu585Gly,ENST00000372105,NM_015613.2;							MODERATE	1754/1872	E585G	LRIT1_HUMAN			Transcript		benign(0.183)	.	ENSP00000361177		CCDS7373.1			1	
CCBL1	0	LGGM	GRCh37	9	131600541	131600541	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	24	11	.	.	ENST00000302586.3:c.307G>A	p.Ala103Thr	p.A103T	ENST00000302586	NM_004059.4	103	Gcc/Acc	0	1	1	UPI0000073E31	0	getma.org/pdb.php?prot=KAT1_HUMAN&from=28&to=415&var=A103T	ENST00000302586		ENSG00000171097	1564		35	3.78		HGNC	p.A103T		CCBL1		SNV							ENST00000416084	protein_coding	getma.org/?cm=var&var=hg19,9,131600541,C,T&fts=all		Gene3D:3.40.640.10,Pfam_domain:PF00155,hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF349,Superfamily_domains:SSF53383		A/T		T	high	470/1903		getma.org/?cm=msa&ty=f&p=KAT1_HUMAN&rb=28&re=415&var=A103T	deleterious(0)	Q9UQN7_HUMAN,Q9UQN6_HUMAN,Q5T278_HUMAN,Q5T276_HUMAN,A8K563_HUMAN			YES	CCBL1,missense_variant,p.Ala197Thr,ENST00000436267,NM_001287390.1;CCBL1,missense_variant,p.Ala103Thr,ENST00000302586,NM_004059.4,NM_001122671.1;CCBL1,missense_variant,p.Ala103Thr,ENST00000451800,;CCBL1,missense_variant,p.Ala103Thr,ENST00000416084,;CCBL1,intron_variant,,ENST00000320665,NM_001122672.1;CCBL1,downstream_gene_variant,,ENST00000427720,;CCBL1,non_coding_transcript_exon_variant,,ENST00000462722,;CCBL1,non_coding_transcript_exon_variant,,ENST00000474824,;CCBL1,intron_variant,,ENST00000483599,;CCBL1,upstream_gene_variant,,ENST00000466418,;							MODERATE	307/1269	A103T	KAT1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000302227		CCDS43884.1			1	
MICU3	0	LGGM	GRCh37	8	16935353	16935353	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	20	11	.	.	ENST00000318063.5:c.629G>A	p.Arg210Gln	p.R210Q	ENST00000318063	NM_181723.2	210	cGa/cAa	0	1	1	UPI000000DAE7	0	NA	ENST00000318063		ENSG00000155970	27820	0.000715	31	2.355		HGNC	p.R210Q	rs565232734,COSM1173397	MICU3	6.25E-05	SNV						0,1	ENST00000318063	protein_coding	getma.org/?cm=var&var=hg19,8,16935353,G,A&fts=all		hmmpanther:PTHR12294,hmmpanther:PTHR12294:SF10,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		R/Q		A	medium	671/3992	1.56E-05	getma.org/?cm=msa&ty=f&p=EFHA2_HUMAN&rb=113&re=225&var=R210Q	deleterious(0)				YES	MICU3,missense_variant,p.Arg210Gln,ENST00000318063,NM_181723.2;MICU3,missense_variant,p.Arg68Gln,ENST00000519044,;MICU3,missense_variant,p.Arg50Gln,ENST00000517398,;MICU3,non_coding_transcript_exon_variant,,ENST00000522235,;MICU3,non_coding_transcript_exon_variant,,ENST00000517447,;					0,1		MODERATE	629/1593	R210Q	MICU3_HUMAN			Transcript		probably_damaging(0.95)	common_variant	ENSP00000321455	8.24E-05	CCDS5999.1			1	
ZNF680	0	LGGM	GRCh37	7	63982490	63982490	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	31	11	.	.	ENST00000309683.6:c.642A>T	p.Glu214Asp	p.E214D	ENST00000309683	NM_178558.4	214	gaA/gaT	0	1	1	UPI000019980A	0	getma.org/pdb.php?prot=ZN680_HUMAN&from=196&to=219&var=E214D	ENST00000309683		ENSG00000173041	26897		42	1.67		HGNC	p.E214D		ZNF680		SNV							ENST00000309683	protein_coding	getma.org/?cm=var&var=hg19,7,63982490,T,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117,PROSITE_profiles:PS50157		E/D		A	low	794/3022		getma.org/?cm=msa&ty=f&p=ZN680_HUMAN&rb=176&re=239&var=E214D	deleterious(0.05)				YES	ZNF680,missense_variant,p.Glu214Asp,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,non_coding_transcript_exon_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,;							MODERATE	642/1593	E214D	ZN680_HUMAN			Transcript		benign(0.205)	.	ENSP00000309330		CCDS34644.1			1	
WWC3	0	LGGM	GRCh37	X	10092351	10092351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	2	12	.	.	ENST00000380861.4:c.1798G>A	p.Gly600Arg	p.G600R	ENST00000380861	NM_015691.3	600	Gga/Aga	0	1	1	UPI0000225CDE	0	getma.org/pdb.php?prot=WWC3_HUMAN&from=550&to=749&var=G600R	ENST00000380861		ENSG00000047644	29237		14	0.695		HGNC	p.G600R	COSM1490263	WWC3		SNV						1	ENST00000380861	protein_coding	getma.org/?cm=var&var=hg19,X,10092351,G,A&fts=all		hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25		G/R		A	neutral	2189/6647		getma.org/?cm=msa&ty=f&p=WWC3_HUMAN&rb=550&re=749&var=G600R	tolerated(0.2)	T2C6S4_HUMAN			YES	WWC3,missense_variant,p.Gly600Arg,ENST00000380861,NM_015691.3;WWC3,missense_variant,p.Gly600Arg,ENST00000454666,;					1		MODERATE	1798/3279	G600R	WWC3_HUMAN			Transcript		benign(0.096)	.	ENSP00000370242		CCDS14136.1			1	
SIN3B	0	LGGM	GRCh37	19	16942399	16942399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	25	12	.	.	ENST00000379803.1:c.322T>C	p.Tyr108His	p.Y108H	ENST00000379803	NM_015260.2	108	Tat/Cat	0	1	1	UPI0000425EFA	0	NA	ENST00000379803		ENSG00000127511	19354		37	2.525		HGNC	p.Y108H		SIN3B		SNV							ENST00000248054	protein_coding	getma.org/?cm=var&var=hg19,19,16942399,T,C&fts=all		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1		Y/H		C	medium	336/5129		getma.org/?cm=msa&ty=f&p=SIN3B_HUMAN&rb=106&re=179&var=Y108H	deleterious(0)				YES	SIN3B,missense_variant,p.Tyr108His,ENST00000379803,NM_015260.2;SIN3B,missense_variant,p.Tyr108His,ENST00000248054,;SIN3B,missense_variant,p.Tyr108His,ENST00000596802,;							MODERATE	322/3489	Y108H	SIN3B_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000369131		CCDS32946.1			1	
MUC4	0	LGGM	GRCh37	3	195515333	195515333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	53	13	.	.	ENST00000463781.3:c.3118C>A	p.Pro1040Thr	p.P1040T	ENST00000463781	NM_018406.6	1040	Cct/Act	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		66	0.55		HGNC	p.P1040T		MUC4		SNV							ENST00000477086	protein_coding	getma.org/?cm=var&var=hg19,3,195515333,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		P/T		T	neutral	3578/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=P1040T		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Pro1040Thr,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Pro1040Thr,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Pro1040Thr,ENST00000478156,;MUC4,missense_variant,p.Pro1040Thr,ENST00000466475,;MUC4,missense_variant,p.Pro1040Thr,ENST00000477756,;MUC4,missense_variant,p.Pro1040Thr,ENST00000477086,;MUC4,missense_variant,p.Pro1040Thr,ENST00000480843,;MUC4,missense_variant,p.Pro1040Thr,ENST00000462323,;MUC4,missense_variant,p.Pro1040Thr,ENST00000470451,;MUC4,missense_variant,p.Pro1040Thr,ENST00000479406,;							MODERATE	3118/16239	P1040T				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
POLR1B	0	LGGM	GRCh37	2	113309448	113309448	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	38	13	.	.	ENST00000263331.5:c.859A>C	p.Arg287=	p.R287=	ENST00000263331	NM_019014.4	287	Agg/Cgg	0	1	1	UPI00001B6B03	0		ENST00000263331		ENSG00000125630	20454		51			HGNC	p.R231R		POLR1B		SNV							ENST00000417433	protein_coding			hmmpanther:PTHR20856:SF5,hmmpanther:PTHR20856,Pfam_domain:PF04561,Gene3D:3.90.1110.10,Pfam_domain:PF04563,Superfamily_domains:SSF64484		R		C		1439/4558				Q9BSR4_HUMAN,Q6DKI9_HUMAN,F5H643_HUMAN,C9JS83_HUMAN,C9JJG2_HUMAN,B7Z1W6_HUMAN			YES	POLR1B,synonymous_variant,p.=,ENST00000263331,NM_019014.4;POLR1B,synonymous_variant,p.=,ENST00000409894,NM_001282774.1;POLR1B,synonymous_variant,p.=,ENST00000541869,NM_001282772.1;POLR1B,synonymous_variant,p.=,ENST00000417433,NM_001137604.1;POLR1B,synonymous_variant,p.=,ENST00000537335,NM_001282776.1;POLR1B,downstream_gene_variant,,ENST00000430769,;POLR1B,downstream_gene_variant,,ENST00000438748,;POLR1B,upstream_gene_variant,,ENST00000498054,;POLR1B,downstream_gene_variant,,ENST00000496238,;POLR1B,3_prime_UTR_variant,,ENST00000333990,NM_001282777.1;POLR1B,3_prime_UTR_variant,,ENST00000430293,;POLR1B,non_coding_transcript_exon_variant,,ENST00000475318,;POLR1B,intron_variant,,ENST00000448770,;POLR1B,downstream_gene_variant,,ENST00000468475,;POLR1B,downstream_gene_variant,,ENST00000424062,;							LOW	859/3408		RPA2_HUMAN			Transcript			.	ENSP00000263331		CCDS2097.1			1	
ETV2	0	LGGM	GRCh37	19	36135563	36135563	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	6	13	.	.	ENST00000402764.2:c.838C>T	p.Leu280=	p.L280=	ENST00000402764	NM_014209.2	280	Ctg/Ttg	0	1	1	UPI000013C7F7	0		ENST00000402764		ENSG00000105672	3491		19			HGNC	p.L308L		ETV2		SNV							ENST00000379026	protein_coding			Prints_domain:PR00454,Superfamily_domains:SSF46785,SMART_domains:SM00413,Gene3D:1.10.10.10,Pfam_domain:PF00178,hmmpanther:PTHR11849:SF36,hmmpanther:PTHR11849,PROSITE_profiles:PS50061		L		T		1277/1487				K7ERX2_HUMAN,B7ZMD4_HUMAN			YES	ETV2,synonymous_variant,p.=,ENST00000379026,;ETV2,synonymous_variant,p.=,ENST00000402764,NM_014209.2;ETV2,synonymous_variant,p.=,ENST00000479824,;ETV2,synonymous_variant,p.=,ENST00000403402,;ETV2,synonymous_variant,p.=,ENST00000379023,;ETV2,3_prime_UTR_variant,,ENST00000591135,;COX6B1,upstream_gene_variant,,ENST00000246554,NM_001863.4;COX6B1,upstream_gene_variant,,ENST00000592141,;COX6B1,upstream_gene_variant,,ENST00000392201,;							LOW	838/1029		ETV2_HUMAN			Transcript			.	ENSP00000384524		CCDS32995.2			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H092489	H092489N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	14	17	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		31			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
MYEF2	0	LGGM	GRCh37	15	48451845	48451845	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	46	14	.	.	ENST00000324324.7:c.682G>A	p.Ala228Thr	p.A228T	ENST00000324324	NM_016132.3	228	Gcc/Acc	0	1	1	UPI0000366A40	0	NA	ENST00000324324		ENSG00000104177	17940		60	2.125		HGNC	p.A228T		MYEF2		SNV							ENST00000267836	protein_coding	getma.org/?cm=var&var=hg19,15,48451845,C,T&fts=all		Superfamily_domains:SSF54928,hmmpanther:PTHR23003:SF15,hmmpanther:PTHR23003		A/T		T	medium	962/5563		getma.org/?cm=msa&ty=f&p=MYEF2_HUMAN&rb=173&re=234&var=A228T	tolerated(0.08)				YES	MYEF2,missense_variant,p.Ala228Thr,ENST00000324324,NM_016132.3;MYEF2,missense_variant,p.Ala228Thr,ENST00000267836,;MYEF2,missense_variant,p.Ala9Thr,ENST00000558395,;AC066612.1,upstream_gene_variant,,ENST00000583682,;MYEF2,non_coding_transcript_exon_variant,,ENST00000559862,;MYEF2,upstream_gene_variant,,ENST00000557868,;MYEF2,downstream_gene_variant,,ENST00000560157,;MYEF2,3_prime_UTR_variant,,ENST00000561351,;MYEF2,downstream_gene_variant,,ENST00000561151,;MYEF2,upstream_gene_variant,,ENST00000561301,;							MODERATE	682/1803	A228T	MYEF2_HUMAN			Transcript		benign(0.376)	.	ENSP00000316950		CCDS32230.1			1	
MRPS18A	0	LGGM	GRCh37	6	43639519	43639519	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	89	14	.	.	ENST00000372133.3:c.571C>G	p.Pro191Ala	p.P191A	ENST00000372133	NM_018135.3	191	Cct/Gct	0	1	1	UPI0000132F33	0	NA	ENST00000372133		ENSG00000096080	14515		103	2.215		HGNC	p.P191A		MRPS18A		SNV							ENST00000372133	protein_coding	getma.org/?cm=var&var=hg19,6,43639519,G,C&fts=all		hmmpanther:PTHR16050		P/A		C	medium	583/1062		getma.org/?cm=msa&ty=f&p=RT18A_HUMAN&rb=129&re=196&var=P191A	deleterious(0.01)				YES	MRPS18A,missense_variant,p.Pro191Ala,ENST00000372133,NM_018135.3;RSPH9,3_prime_UTR_variant,,ENST00000372165,NM_001193341.1;RSPH9,3_prime_UTR_variant,,ENST00000372163,NM_152732.4;MRPS18A,3_prime_UTR_variant,,ENST00000372116,NM_001193343.1;MRPS18A,downstream_gene_variant,,ENST00000427312,;							MODERATE	571/591	P191A	RT18A_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000361206		CCDS4906.1			1	
AEN	0	LGGM	GRCh37	15	89174402	89174402	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	21	14	.	.	ENST00000332810.3:c.*877G>A		*293*	ENST00000332810	NM_022767.3			0	1	1	UPI000013DF23	0		ENST00000332810		ENSG00000181026	25722		35			HGNC	p.V327M		AEN		SNV							ENST00000379231	protein_coding							A		2006/3117				Q8WYW8_HUMAN,H0YMJ6_HUMAN			YES	AEN,missense_variant,p.Val327Met,ENST00000379231,;AEN,3_prime_UTR_variant,,ENST00000332810,NM_022767.3;AEN,downstream_gene_variant,,ENST00000559528,;ISG20,upstream_gene_variant,,ENST00000560741,;ISG20,upstream_gene_variant,,ENST00000558992,;AEN,non_coding_transcript_exon_variant,,ENST00000557927,;AEN,downstream_gene_variant,,ENST00000557787,;AEN,downstream_gene_variant,,ENST00000558327,;AEN,downstream_gene_variant,,ENST00000560174,;							MODIFIER	-/978		AEN_HUMAN			Transcript			.	ENSP00000331944		CCDS10344.1			1	
KIAA1549	0	LGGM	GRCh37	7	138564315	138564315	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	18	14	.	.	ENST00000422774.1:c.4314C>T	p.Asn1438=	p.N1438=	ENST00000422774		1438	aaC/aaT	0	1	1	UPI0001837EBD	0		ENST00000422774		ENSG00000122778	22219		32			HGNC	p.N1388N	rs370231729	KIAA1549		SNV	A:0.0003		1	0.000421			ENST00000242365	protein_coding		A:0	hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877		N	A:0	A		4363/6283					A:0	A:0.003	YES	KIAA1549,synonymous_variant,p.=,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,synonymous_variant,p.=,ENST00000242365,;KIAA1549,synonymous_variant,p.=,ENST00000422774,;RNU6-1272P,upstream_gene_variant,,ENST00000362776,;	0.00243	A:0.0006					LOW	4314/5853		K1549_HUMAN		A:0	Transcript			common_variant	ENSP00000416040	2.53E-05	CCDS56513.1		A:0	1	
PPP1CC	0	LGGM	GRCh37	12	111160314	111160314	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	37	15	.	.	ENST00000340766.5:c.710A>G	p.His237Arg	p.H237R	ENST00000340766	NM_001244974.1	237	cAt/cGt	0	1		UPI0000111E6E	0	getma.org/pdb.php?prot=PP1G_HUMAN&from=57&to=252&var=H237R	ENST00000335007		ENSG00000186298	9283		52	0.23		HGNC	p.H246R		PPP1CC		SNV							ENST00000546933	protein_coding	getma.org/?cm=var&var=hg19,12,111160314,T,C&fts=all		Gene3D:3.60.21.10,Pfam_domain:PF00149,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207,SMART_domains:SM00156,Superfamily_domains:SSF56300		H/R		C	neutral	901/2559		getma.org/?cm=msa&ty=f&p=PP1G_HUMAN&rb=57&re=252&var=H237R	tolerated_low_confidence(0.53)	Q9UPN1_HUMAN,C4TNW6_HUMAN,C4TNW5_HUMAN,B4DNE3_HUMAN				PPP1CC,missense_variant,p.His237Arg,ENST00000335007,NM_002710.3;PPP1CC,missense_variant,p.His246Arg,ENST00000546933,;PPP1CC,missense_variant,p.His237Arg,ENST00000550991,;PPP1CC,missense_variant,p.His237Arg,ENST00000551676,;PPP1CC,missense_variant,p.His237Arg,ENST00000340766,NM_001244974.1;PPP1CC,intron_variant,,ENST00000551582,;PPP1CC,3_prime_UTR_variant,,ENST00000550261,;PPP1CC,non_coding_transcript_exon_variant,,ENST00000553024,;PPP1CC,upstream_gene_variant,,ENST00000546904,;							MODERATE	710/972	H237R	PP1G_HUMAN			Transcript		benign(0.003)	.	ENSP00000335084		CCDS9150.1			1	
HMBOX1	0	LGGM	GRCh37	8	28904953	28904953	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	29	16	.	.	ENST00000397358.3:c.1013A>G	p.Lys338Arg	p.K338R	ENST00000397358	NM_024567.3	338	aAg/aGg	0	1		UPI000035B023	0	getma.org/pdb.php?prot=HMBX1_HUMAN&from=268&to=339&var=K338R	ENST00000287701		ENSG00000147421	26137		45	0.885		HGNC	p.K338R		HMBOX1		SNV							ENST00000397358	protein_coding	getma.org/?cm=var&var=hg19,8,28904953,A,G&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR14618:SF2,hmmpanther:PTHR14618,Pfam_domain:PF00046,Gene3D:1.10.10.60,SMART_domains:SM00389,Superfamily_domains:SSF46689		K/R		G	low	1355/3184		getma.org/?cm=msa&ty=f&p=HMBX1_HUMAN&rb=268&re=339&var=K338R	deleterious(0.02)	H0YBM8_HUMAN,E5RHH9_HUMAN				HMBOX1,missense_variant,p.Lys338Arg,ENST00000397358,NM_024567.3;HMBOX1,missense_variant,p.Lys338Arg,ENST00000444075,;HMBOX1,missense_variant,p.Lys338Arg,ENST00000287701,NM_001135726.1;HMBOX1,missense_variant,p.Lys338Arg,ENST00000558662,;HMBOX1,missense_variant,p.Lys338Arg,ENST00000524238,;HMBOX1,missense_variant,p.Lys338Arg,ENST00000523613,;HMBOX1,missense_variant,p.Lys338Arg,ENST00000355231,;HMBOX1,missense_variant,p.Lys338Arg,ENST00000519047,;HMBOX1,intron_variant,,ENST00000560599,;HMBOX1,downstream_gene_variant,,ENST00000403668,;RNA5SP260,downstream_gene_variant,,ENST00000363849,;HMBOX1,non_coding_transcript_exon_variant,,ENST00000517386,;HMBOX1,3_prime_UTR_variant,,ENST00000521516,;HMBOX1,upstream_gene_variant,,ENST00000522468,;							MODERATE	1013/1263	K338R	HMBX1_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000287701		CCDS6071.1			1	
TBC1D13	0	LGGM	GRCh37	9	131559484	131559484	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	36	16	.	.	ENST00000372648.5:c.534G>A	p.Gly178=	p.G178=	ENST00000372648	NM_018201.3	178	ggG/ggA	0	1	1	UPI000013E816	0		ENST00000372648		ENSG00000107021	25571		52			HGNC	p.G178G		TBC1D13		SNV							ENST00000223865	protein_coding			PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF252,hmmpanther:PTHR22957,SMART_domains:SM00164		G		A		684/3906				Q59F95_HUMAN,B4DHM6_HUMAN,B3KW04_HUMAN			YES	TBC1D13,synonymous_variant,p.=,ENST00000372648,NM_018201.3;TBC1D13,synonymous_variant,p.=,ENST00000223865,NM_001286772.1;TBC1D13,5_prime_UTR_variant,,ENST00000539497,;TBC1D13,non_coding_transcript_exon_variant,,ENST00000466056,;TBC1D13,downstream_gene_variant,,ENST00000475097,;							LOW	534/1203		TBC13_HUMAN			Transcript			.	ENSP00000361731		CCDS6911.1			1	
PHRF1	0	LGGM	GRCh37	11	607249	607249	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	32	16	.	.	ENST00000416188.2:c.1790C>T	p.Ala597Val	p.A597V	ENST00000416188		597	gCg/gTg	0	1		UPI000041A715	0	NA	ENST00000264555		ENSG00000070047	24351		48	1.24		HGNC	p.A594V		PHRF1		SNV							ENST00000533464	protein_coding	getma.org/?cm=var&var=hg19,11,607249,C,T&fts=all		hmmpanther:PTHR15242:SF1,hmmpanther:PTHR15242		A/V		T	low	1921/5523		getma.org/?cm=msa&ty=f&p=PHRF1_HUMAN&rb=535&re=898&var=A598V	tolerated(0.13)					PHRF1,missense_variant,p.Ala598Val,ENST00000264555,NM_020901.2,NM_001286581.1;PHRF1,missense_variant,p.Ala597Val,ENST00000416188,;PHRF1,missense_variant,p.Ala596Val,ENST00000413872,NM_001286582.1;PHRF1,missense_variant,p.Ala594Val,ENST00000533464,NM_001286583.1;PHRF1,missense_variant,p.Ala598Val,ENST00000534320,;PHRF1,downstream_gene_variant,,ENST00000532550,;							MODERATE	1793/4950	A598V	PHRF1_HUMAN			Transcript		benign(0.31)	.	ENSP00000264555		CCDS65988.1			1	
OR2B6	0	LGGM	GRCh37	6	27925526	27925526	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	23	16	.	.	ENST00000244623.1:c.508G>C	p.Asp170His	p.D170H	ENST00000244623	NM_012367.1	170	Gac/Cac	0	1	1	UPI000003F061	0	NA	ENST00000244623		ENSG00000124657	8241		39	0.145		HGNC	p.D170H		OR2B6		SNV							ENST00000244623	protein_coding	getma.org/?cm=var&var=hg19,6,27925526,G,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF202,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		D/H		C	neutral	508/942		getma.org/?cm=msa&ty=f&p=OR2B6_HUMAN&rb=139&re=283&var=D170H	deleterious(0)				YES	OR2B6,missense_variant,p.Asp170His,ENST00000244623,NM_012367.1;							MODERATE	508/942	D170H	OR2B6_HUMAN			Transcript		possibly_damaging(0.704)	.	ENSP00000244623		CCDS4642.1			1	
PTGFRN	0	LGGM	GRCh37	1	117484363	117484363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	34	17	.	.	ENST00000393203.2:c.76G>A	p.Val26Ile	p.V26I	ENST00000393203	NM_020440.2	26	Gtc/Atc	0	1	1	UPI000012ABC4	0	NA	ENST00000393203		ENSG00000134247	9601		51	0.14		HGNC	p.V26I		PTGFRN		SNV							ENST00000393203	protein_coding	getma.org/?cm=var&var=hg19,1,117484363,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF3,Superfamily_domains:SSF48726		V/I		A	neutral	223/6178		getma.org/?cm=msa&ty=f&p=FPRP_HUMAN&rb=22&re=140&var=V26I	deleterious(0.03)	Q9H3U3_HUMAN			YES	PTGFRN,missense_variant,p.Val26Ile,ENST00000393203,NM_020440.2;							MODERATE	76/2640	V26I	FPRP_HUMAN			Transcript		benign(0.136)	.	ENSP00000376899		CCDS890.1			1	
NAV3	0	LGGM	GRCh37	12	78569106	78569106	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	28	18	.	.	ENST00000536525.2:c.5002C>T	p.His1668Tyr	p.H1668Y	ENST00000536525	NM_014903.4	1668	Cat/Tat	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		46	1.975		HGNC	p.H1491Y		NAV3		SNV							ENST00000266692	protein_coding	getma.org/?cm=var&var=hg19,12,78569106,C,T&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		H/Y		T	medium	5175/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=670&re=1929&var=H1668Y	deleterious(0.01)	F8VZV4_HUMAN				NAV3,missense_variant,p.His1668Tyr,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.His1668Tyr,ENST00000228327,;NAV3,missense_variant,p.His1491Tyr,ENST00000266692,;NAV3,missense_variant,p.His1668Tyr,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.His563Tyr,ENST00000552895,;NAV3,missense_variant,p.His297Tyr,ENST00000550788,;NAV3,upstream_gene_variant,,ENST00000548948,;							MODERATE	5002/7158	H1668Y	NAV3_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000381007		CCDS66432.1			1	
NUP205	0	LGGM	GRCh37	7	135327990	135327990	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	30	18	.	.	ENST00000285968.6:c.5443A>G	p.Ile1815Val	p.I1815V	ENST00000285968	NM_015135.2	1815	Atc/Gtc	0	1	1	UPI00001D74D8	0	NA	ENST00000285968		ENSG00000155561	18658		48	-0.345		HGNC	p.I1815V		NUP205		SNV							ENST00000285968	protein_coding	getma.org/?cm=var&var=hg19,7,135327990,A,G&fts=all		hmmpanther:PTHR31344:SF0,hmmpanther:PTHR31344		I/V		G	neutral	5469/6266		getma.org/?cm=msa&ty=f&p=NU205_HUMAN&rb=1731&re=1930&var=I1815V	tolerated(0.82)	Q6P486_HUMAN,Q6DKH1_HUMAN			YES	NUP205,missense_variant,p.Ile1815Val,ENST00000285968,NM_015135.2;NUP205,3_prime_UTR_variant,,ENST00000477620,;NUP205,non_coding_transcript_exon_variant,,ENST00000607647,;NUP205,non_coding_transcript_exon_variant,,ENST00000461255,;NUP205,upstream_gene_variant,,ENST00000490439,;NUP205,upstream_gene_variant,,ENST00000491089,;							MODERATE	5443/6039	I1815V	NU205_HUMAN			Transcript		benign(0.002)	.	ENSP00000285968		CCDS34759.1			1	
SETD4	0	LGGM	GRCh37	21	37417888	37417888	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	30	19	.	.	ENST00000399215.1:c.718C>A	p.His240Asn	p.H240N	ENST00000399215		240	Cat/Aat	0	1		UPI000012868E	0	getma.org/pdb.php?prot=SETD4_HUMAN&from=59&to=273&var=H240N	ENST00000332131		ENSG00000185917	1258		49	-0.83		HGNC	p.H216N		SETD4		SNV							ENST00000399212	protein_coding	getma.org/?cm=var&var=hg19,21,37417888,G,T&fts=all		Superfamily_domains:SSF82199,PIRSF_domain:PIRSF027158,Pfam_domain:PF00856,Gene3D:2h21C01,hmmpanther:PTHR13271,hmmpanther:PTHR13271:SF18,PROSITE_profiles:PS50280		H/N		T	neutral	958/3015		getma.org/?cm=msa&ty=f&p=SETD4_HUMAN&rb=59&re=273&var=H240N	tolerated(0.73)	C9JWV5_HUMAN,C9JIU9_HUMAN,C9J256_HUMAN				SETD4,missense_variant,p.His240Asn,ENST00000399215,;SETD4,missense_variant,p.His216Asn,ENST00000399212,NM_001286752.1;SETD4,missense_variant,p.His240Asn,ENST00000332131,NM_017438.3;SETD4,missense_variant,p.His216Asn,ENST00000399201,;SETD4,missense_variant,p.His216Asn,ENST00000399205,NM_001007261.2;SETD4,missense_variant,p.His240Asn,ENST00000399208,NM_001007259.1;SETD4,missense_variant,p.His240Asn,ENST00000399207,;SETD4,downstream_gene_variant,,ENST00000424303,;SETD4,downstream_gene_variant,,ENST00000446166,;SETD4,downstream_gene_variant,,ENST00000429161,;SETD4,downstream_gene_variant,,ENST00000442559,;AP000688.1,downstream_gene_variant,,ENST00000600312,;SETD4,non_coding_transcript_exon_variant,,ENST00000481477,;SETD4,upstream_gene_variant,,ENST00000469482,;SETD4,upstream_gene_variant,,ENST00000487297,;SETD4,downstream_gene_variant,,ENST00000485865,;RIMKLBP1,upstream_gene_variant,,ENST00000408914,;RIMKLBP1,upstream_gene_variant,,ENST00000341022,;							MODERATE	718/1323	H240N	SETD4_HUMAN			Transcript		benign(0)	.	ENSP00000329189		CCDS13640.1			1	
HOMER2	0	LGGM	GRCh37	15	83520997	83520997	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	50	20	.	.	ENST00000304231.8:c.692A>T	p.Glu231Val	p.E231V	ENST00000304231	NM_199330.2	231	gAg/gTg	0	1	1	UPI000006D53F	0	NA	ENST00000304231		ENSG00000103942	17513		70	2.61		HGNC	p.E139V		HOMER2		SNV							ENST00000558817	protein_coding	getma.org/?cm=var&var=hg19,15,83520997,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10918:SF2,hmmpanther:PTHR10918		E/V		A	medium	885/1990		getma.org/?cm=msa&ty=f&p=HOME2_HUMAN&rb=108&re=307&var=E231V	deleterious(0.01)				YES	HOMER2,missense_variant,p.Glu231Val,ENST00000304231,NM_199330.2;HOMER2,missense_variant,p.Glu220Val,ENST00000450735,NM_004839.3;HOMER2,missense_variant,p.Glu139Val,ENST00000558817,;HOMER2,intron_variant,,ENST00000426485,;HOMER2,intron_variant,,ENST00000399166,;HOMER2,upstream_gene_variant,,ENST00000558090,;HOMER2,downstream_gene_variant,,ENST00000561345,;HOMER2,non_coding_transcript_exon_variant,,ENST00000558552,;							MODERATE	692/1065	E231V	HOME2_HUMAN			Transcript		benign(0.19)	.	ENSP00000305632		CCDS45334.1			1	
EHBP1	0	LGGM	GRCh37	2	63053264	63053264	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	40	20	.	.	ENST00000263991.5:c.355A>G	p.Ile119Val	p.I119V	ENST00000263991	NM_015252.3	119	Atc/Gtc	0	1	1	UPI000013D49A	0	NA	ENST00000263991		ENSG00000115504	29144		60	-0.035		HGNC	p.I119V		EHBP1		SNV			1				ENST00000405482	protein_coding	getma.org/?cm=var&var=hg19,2,63053264,A,G&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF124,Pfam_domain:PF10358		I/V		G	neutral	837/5165		getma.org/?cm=msa&ty=f&p=EHBP1_HUMAN&rb=12&re=165&var=I119V	tolerated(0.09)	C9K0H9_HUMAN,C9JEP1_HUMAN,C9J268_HUMAN,B3KM32_HUMAN			YES	EHBP1,missense_variant,p.Ile119Val,ENST00000263991,NM_015252.3;EHBP1,missense_variant,p.Ile119Val,ENST00000431489,NM_001142616.1;EHBP1,missense_variant,p.Ile119Val,ENST00000354487,NM_001142614.1;EHBP1,missense_variant,p.Ile119Val,ENST00000405015,NM_001142615.2;EHBP1,missense_variant,p.Ile119Val,ENST00000405289,;EHBP1,missense_variant,p.Ile119Val,ENST00000405482,;EHBP1,missense_variant,p.Ile87Val,ENST00000413434,;EHBP1,5_prime_UTR_variant,,ENST00000426940,;EHBP1,5_prime_UTR_variant,,ENST00000449820,;AC007098.1,non_coding_transcript_exon_variant,,ENST00000452397,;EHBP1,non_coding_transcript_exon_variant,,ENST00000494958,;							MODERATE	355/3696	I119V	EHBP1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000263991		CCDS1872.1			1	
TRAV10	0	LGGM	GRCh37	14	22294020	22294020	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	30	20	.	.	ENST00000390432.2:c.124C>A	p.Leu42Ile	p.L42I	ENST00000390432		42	Ctt/Att	0	1	1	UPI000011C707	0		ENST00000390432		ENSG00000211784	12103		50			HGNC	p.L42I		TRAV10		SNV							ENST00000390432	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19433,hmmpanther:PTHR19433:SF62,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		L/I		A		160/379			tolerated(0.12)				YES	TRAV10,missense_variant,p.Leu42Ile,ENST00000390432,;TRAV11,upstream_gene_variant,,ENST00000539512,;							MODERATE	124/343					Transcript		benign(0.075)	.	ENSP00000440313					1	
CACNA1E	0	LGGM	GRCh37	1	181687275	181687275	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	38	20	.	.	ENST00000367573.2:c.1610A>G	p.His537Arg	p.H537R	ENST00000367573	NM_001205293.1	537	cAc/cGc	0	1	1	UPI00004588C2	0	getma.org/pdb.php?prot=CAC1E_HUMAN&from=510&to=702&var=H537R	ENST00000367573		ENSG00000198216	1392		58	-1.115		HGNC	p.H537R		CACNA1E		SNV							ENST00000367570	protein_coding	getma.org/?cm=var&var=hg19,1,181687275,A,G&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324		H/R		G	neutral	1610/7067		getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=510&re=702&var=H537R	tolerated(0.36)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.His537Arg,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.His488Arg,ENST00000357570,;CACNA1E,missense_variant,p.His537Arg,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.His144Arg,ENST00000367567,;CACNA1E,missense_variant,p.His488Arg,ENST00000358338,;CACNA1E,missense_variant,p.His537Arg,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.His537Arg,ENST00000360108,;CACNA1E,downstream_gene_variant,,ENST00000524607,;							MODERATE	1610/6942	H537R	CAC1E_HUMAN			Transcript		possibly_damaging(0.537)	.	ENSP00000356545		CCDS55664.1			1	
CSMD2	0	LGGM	GRCh37	1	34123639	34123639	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	25	21	.	.	ENST00000241312.4:c.4234G>A	p.Asp1412Asn	p.D1412N	ENST00000241312		1412	Gac/Aac	0	1	1	UPI00004561AB	0	getma.org/pdb.php?prot=CSMD2_HUMAN&from=1385&to=1441&var=D1412N	ENST00000241312		ENSG00000121904	19290		46	1.095		HGNC	p.D1452N	COSM3488566,COSM3488567	CSMD2		SNV						1,1	ENST00000373381	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,34123639,C,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535		D/N		T	low	4263/13108		getma.org/?cm=msa&ty=f&p=CSMD2_HUMAN&rb=1385&re=1441&var=D1412N	tolerated(0.18)				YES	CSMD2,missense_variant,p.Asp1452Asn,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,missense_variant,p.Asp325Asn,ENST00000373380,;CSMD2,5_prime_UTR_variant,,ENST00000373388,;CSMD2,missense_variant,p.Asp1412Asn,ENST00000241312,;					1,1		MODERATE	4234/10464	D1412N	CSMD2_HUMAN			Transcript		benign(0.151)	.	ENSP00000241312		CCDS380.1			1	
STAB2	0	LGGM	GRCh37	12	104119918	104119918	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	40	22	.	.	ENST00000388887.2:c.4828T>G	p.Ser1610Ala	p.S1610A	ENST00000388887	NM_017564.9	1610	Tcc/Gcc	0	1	1	UPI00001ADDF4	0	NA	ENST00000388887		ENSG00000136011	18629		62	2.3		HGNC	p.S1610A		STAB2		SNV							ENST00000388887	protein_coding	getma.org/?cm=var&var=hg19,12,104119918,T,G&fts=all		PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Superfamily_domains:SSF82153		S/A		G	medium	5032/8251		getma.org/?cm=msa&ty=f&p=STAB2_HUMAN&rb=1608&re=1726&var=S1610A	deleterious(0.03)	H0YIF3_HUMAN			YES	STAB2,missense_variant,p.Ser1610Ala,ENST00000388887,NM_017564.9;							MODERATE	4828/7656	S1610A	STAB2_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000373539		CCDS31888.1			1	
SPHKAP	0	LGGM	GRCh37	2	228973595	228973595	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	45	22	.	.	ENST00000392056.3:c.199C>T	p.Pro67Ser	p.P67S	ENST00000392056	NM_001142644.1	67	Ccc/Tcc	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		67	0.55		HGNC	p.P67S		SPHKAP		SNV							ENST00000344657	protein_coding	getma.org/?cm=var&var=hg19,2,228973595,G,A&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		P/S		A	neutral	246/6917		getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=1&re=200&var=P67S	tolerated(0.08)				YES	SPHKAP,missense_variant,p.Pro67Ser,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Pro67Ser,ENST00000344657,NM_030623.3;							MODERATE	199/5103	P67S	SPKAP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000375909		CCDS46537.1			1	
FAM98A	0	LGGM	GRCh37	2	33810741	33810741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	45	23	.	.	ENST00000238823.8:c.744G>T	p.Lys248Asn	p.K248N	ENST00000238823		248	aaG/aaT	0	1	1	UPI000013F15A	0	NA	ENST00000238823		ENSG00000119812	24520		68	1.12		HGNC	p.K53N		FAM98A		SNV							ENST00000441530	protein_coding	getma.org/?cm=var&var=hg19,2,33810741,C,A&fts=all		hmmpanther:PTHR31353,hmmpanther:PTHR31353:SF6,Pfam_domain:PF10239		K/N		A	low	885/2816		getma.org/?cm=msa&ty=f&p=FA98A_HUMAN&rb=10&re=330&var=K249N	deleterious(0.01)	C9J3G8_HUMAN,B4DT23_HUMAN			YES	FAM98A,missense_variant,p.Lys248Asn,ENST00000403368,NM_015475.3;FAM98A,missense_variant,p.Lys248Asn,ENST00000238823,;FAM98A,missense_variant,p.Lys53Asn,ENST00000441530,;FAM98A,downstream_gene_variant,,ENST00000498340,;FAM98A,non_coding_transcript_exon_variant,,ENST00000474985,;FAM98A,non_coding_transcript_exon_variant,,ENST00000475122,;FAM98A,non_coding_transcript_exon_variant,,ENST00000492649,;							MODERATE	744/1557	K249N	FA98A_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000238823		CCDS33179.1			1	
DONSON	0	LGGM	GRCh37	21	34958359	34958359	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	27	23	.	.	ENST00000303071.5:c.531G>A	p.Leu177=	p.L177=	ENST00000303071	NM_017613.3	177	ttG/ttA	0	1	1	UPI00001296AD	0		ENST00000303071		ENSG00000159147	2993		50			HGNC	p.L177L	COSM350254	DONSON		SNV						1	ENST00000457359	protein_coding			hmmpanther:PTHR12972		L		T		598/2170							YES	DONSON,synonymous_variant,p.=,ENST00000453626,;DONSON,synonymous_variant,p.=,ENST00000303071,NM_017613.3;DONSON,synonymous_variant,p.=,ENST00000303113,;DONSON,synonymous_variant,p.=,ENST00000437395,;DONSON,synonymous_variant,p.=,ENST00000432378,;DONSON,synonymous_variant,p.=,ENST00000440810,;AP000304.12,synonymous_variant,p.=,ENST00000429238,;CRYZL1,downstream_gene_variant,,ENST00000290244,;CRYZL1,downstream_gene_variant,,ENST00000381554,NM_145858.2;CRYZL1,downstream_gene_variant,,ENST00000381540,;CRYZL1,downstream_gene_variant,,ENST00000445393,;CRYZL1,downstream_gene_variant,,ENST00000441940,;CRYZL1,downstream_gene_variant,,ENST00000480893,;DONSON,synonymous_variant,p.=,ENST00000457359,;DONSON,stop_retained_variant,p.=,ENST00000417871,;DONSON,synonymous_variant,p.=,ENST00000442660,;DONSON,synonymous_variant,p.=,ENST00000444517,;CRYZL1,downstream_gene_variant,,ENST00000452420,;CRYZL1,downstream_gene_variant,,ENST00000468349,;CRYZL1,downstream_gene_variant,,ENST00000437996,;DONSON,upstream_gene_variant,,ENST00000462566,;					1		LOW	531/1701		DONS_HUMAN			Transcript			.	ENSP00000307143		CCDS13632.1			1	
CYB561D2	0	LGGM	GRCh37	3	50391077	50391077	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	36	23	.	.	ENST00000418577.1:c.571G>T	p.Ala191Ser	p.A191S	ENST00000418577		191	Gcc/Tcc	0	1		UPI000000DC32	0	NA	ENST00000232508		ENSG00000114395	30253		59	0.075		HGNC	p.A191S		CYB561D2		SNV							ENST00000425346	protein_coding	getma.org/?cm=var&var=hg19,3,50391077,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50939,hmmpanther:PTHR15422,hmmpanther:PTHR15422:SF21		A/S		T	neutral	802/1225		getma.org/?cm=msa&ty=f&p=C56D2_HUMAN&rb=14&re=217&var=A191S	tolerated(0.45)					CYB561D2,missense_variant,p.Ala191Ser,ENST00000418577,;CYB561D2,missense_variant,p.Ala191Ser,ENST00000425346,;CYB561D2,missense_variant,p.Ala191Ser,ENST00000232508,NM_007022.3;CYB561D2,missense_variant,p.Ala191Ser,ENST00000424512,;XXcos-LUCA11.5,intron_variant,,ENST00000606589,;TMEM115,downstream_gene_variant,,ENST00000266025,NM_007024.4;NPRL2,upstream_gene_variant,,ENST00000232501,NM_006545.4;CYB561D2,intron_variant,,ENST00000490926,;CYB561D2,downstream_gene_variant,,ENST00000419046,;NPRL2,upstream_gene_variant,,ENST00000493465,;NPRL2,upstream_gene_variant,,ENST00000467294,;NPRL2,upstream_gene_variant,,ENST00000480296,;NPRL2,upstream_gene_variant,,ENST00000461020,;NPRL2,upstream_gene_variant,,ENST00000487632,;NPRL2,upstream_gene_variant,,ENST00000479512,;NPRL2,upstream_gene_variant,,ENST00000451194,;NPRL2,upstream_gene_variant,,ENST00000476064,;NPRL2,upstream_gene_variant,,ENST00000433381,;NPRL2,upstream_gene_variant,,ENST00000429366,;NPRL2,upstream_gene_variant,,ENST00000418825,;NPRL2,upstream_gene_variant,,ENST00000433999,;NPRL2,upstream_gene_variant,,ENST00000469839,;NPRL2,upstream_gene_variant,,ENST00000448302,;NPRL2,upstream_gene_variant,,ENST00000493907,;NPRL2,upstream_gene_variant,,ENST00000492805,;							MODERATE	571/669	A191S	C56D2_HUMAN			Transcript		benign(0.001)	.	ENSP00000232508		CCDS2827.1			1	
UNC13B	0	LGGM	GRCh37	9	35397228	35397228	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	26	24	.	.	ENST00000378495.3:c.3350A>G	p.Asn1117Ser	p.N1117S	ENST00000378495	NM_006377.3	1117	aAt/aGt	0	1	1	UPI0000211336	0	getma.org/pdb.php?prot=UN13B_HUMAN&from=1013&to=1156&var=N1117S	ENST00000378495		ENSG00000198722	12566		50	2.35		HGNC	p.N1117S	rs370999495	UNC13B		SNV	G:0						ENST00000378495	protein_coding	getma.org/?cm=var&var=hg19,9,35397228,A,G&fts=all		PROSITE_profiles:PS51258,hmmpanther:PTHR10480		N/S	G:0.0001	G	medium	3572/6303	0.000165	getma.org/?cm=msa&ty=f&p=UN13B_HUMAN&rb=1013&re=1156&var=N1117S	deleterious(0.02)				YES	UNC13B,missense_variant,p.Asn1117Ser,ENST00000378495,NM_006377.3;UNC13B,missense_variant,p.Asn1129Ser,ENST00000396787,;UNC13B,missense_variant,p.Asn1117Ser,ENST00000378496,;UNC13B,intron_variant,,ENST00000481299,;							MODERATE	3350/4776	N1117S	UN13B_HUMAN	0.000151		Transcript		probably_damaging(0.995)	.	ENSP00000367756	9.88E-05	CCDS6579.1			1	
USP8	0	LGGM	GRCh37	15	50790888	50790888	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	34	24	.	.	ENST00000433963.1:c.3134A>T	p.Lys1045Met	p.K1045M	ENST00000433963	NM_001128611.1	1045	aAg/aTg	0	1		UPI0000030306	0	getma.org/pdb.php?prot=UBP8_HUMAN&from=774&to=1106&var=K1045M	ENST00000307179		ENSG00000138592	12631		58	2.245		HGNC	p.K1045M		USP8		SNV			1				ENST00000307179	protein_coding	getma.org/?cm=var&var=hg19,15,50790888,A,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350,Pfam_domain:PF00443,Superfamily_domains:SSF54001		K/M		T	medium	3332/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=774&re=1106&var=K1045M	deleterious(0)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Lys1045Met,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Lys1045Met,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Lys1045Met,ENST00000307179,;USP8,missense_variant,p.Lys939Met,ENST00000425032,NM_001283049.1;USP50,downstream_gene_variant,,ENST00000532404,NM_203494.4;RP11-562A8.5,upstream_gene_variant,,ENST00000560159,;RP11-562A8.4,non_coding_transcript_exon_variant,,ENST00000560380,;USP50,downstream_gene_variant,,ENST00000530218,;USP8,non_coding_transcript_exon_variant,,ENST00000419830,;USP8,non_coding_transcript_exon_variant,,ENST00000560379,;USP50,downstream_gene_variant,,ENST00000559105,;							MODERATE	3134/3357	K1045M	UBP8_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000302239		CCDS10137.1			1	
OR8K3	0	LGGM	GRCh37	11	56086532	56086532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	25	25	.	.	ENST00000312711.1:c.750C>A	p.Phe250Leu	p.F250L	ENST00000312711	NM_001005202.1	250	ttC/ttA	0	1	1	UPI0000041BE7	0	NA	ENST00000312711		ENSG00000181689	15313		50	2.315		HGNC	p.F250L		OR8K3		SNV							ENST00000312711	protein_coding	getma.org/?cm=var&var=hg19,11,56086532,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		F/L		A	medium	750/939		getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=139&re=282&var=F250L	tolerated_low_confidence(0.13)				YES	OR8K3,missense_variant,p.Phe250Leu,ENST00000312711,NM_001005202.1;							MODERATE	750/939	F250L	OR8K3_HUMAN			Transcript		possibly_damaging(0.47)	.	ENSP00000323555		CCDS31527.1			1	
FMN2	0	LGGM	GRCh37	1	240370914	240370946	+	inframe_deletion	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	novel	by Submitter	H092489	H092489N.bam	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	45	25	.	.	ENST00000319653.9:c.2822_2854delGAATACCTCCTCCGCCCCCTCTACCCGGAGCGG	p.Gly941_Ala951del	p.G941_A951del	ENST00000319653	NM_020066.4	934	ctGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCg/ctg	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		70			HGNC	p.934_945del	rs562038978,COSM1340565	FMN2		deletion	-:0.3357		1			0,1	ENST00000319653	protein_coding			Pfam_domain:PF06346,Prints_domain:PR01217,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,Low_complexity_(Seg):seg,SMART_domains:SM00498		LPPLPGAGIPPP/L	-:0.2564	-		3032-3064/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,inframe_deletion,p.Gly941_Ala951del,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;					0,1		MODERATE	2802-2834/5169		FMN2_HUMAN			Transcript	20		.	ENSP00000318884		CCDS31069.2			1	
POLQ	0	LGGM	GRCh37	3	121206630	121206630	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	40	26	.	.	ENST00000264233.5:c.5148A>T	p.Glu1716Asp	p.E1716D	ENST00000264233	NM_199420.3	1716	gaA/gaT	0	1	1	UPI0000D61B5F	0	NA	ENST00000264233		ENSG00000051341	9186		66	1.7		HGNC	p.E1716D		POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121206630,T,A&fts=all				E/D		A	low	5277/8775		getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=1686&re=1885&var=E1716D	tolerated(0.37)				YES	POLQ,missense_variant,p.Glu1716Asp,ENST00000264233,NM_199420.3;							MODERATE	5148/7773	E1716D	DPOLQ_HUMAN			Transcript		benign(0.007)	.	ENSP00000264233		CCDS33833.1			1	
GRAMD1B	0	LGGM	GRCh37	11	123479502	123479502	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	37	26	.	.	ENST00000529750.1:c.1220G>T	p.Arg407Leu	p.R407L	ENST00000529750	NM_020716.1	407	cGc/cTc	0	1	1	UPI00005C3025	0	NA	ENST00000529750		ENSG00000023171	29214		63	1.78		HGNC	p.R407L		GRAMD1B		SNV							ENST00000529750	protein_coding	getma.org/?cm=var&var=hg19,11,123479502,G,T&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF3		R/L		T	low	1547/7723		getma.org/?cm=msa&ty=f&p=GRM1B_HUMAN&rb=364&re=563&var=R407L	deleterious(0.01)				YES	GRAMD1B,missense_variant,p.Arg407Leu,ENST00000529750,NM_020716.1;GRAMD1B,missense_variant,p.Arg367Leu,ENST00000529432,NM_001286564.1;GRAMD1B,missense_variant,p.Arg414Leu,ENST00000456860,NM_001286563.1;GRAMD1B,missense_variant,p.Arg407Leu,ENST00000322282,;GRAMD1B,missense_variant,p.Arg98Leu,ENST00000450171,;GRAMD1B,missense_variant,p.Arg403Leu,ENST00000534764,;GRAMD1B,non_coding_transcript_exon_variant,,ENST00000532581,;GRAMD1B,upstream_gene_variant,,ENST00000525945,;							MODERATE	1220/2217	R407L	GRM1B_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000436500		CCDS53720.1			1	
ST8SIA4	0	LGGM	GRCh37	5	100147725	100147725	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	3	26	.	.	ENST00000231461.5:c.906C>T	p.Pro302=	p.P302=	ENST00000231461	NM_005668.5	302	ccC/ccT	0	1	1	UPI0000135973	0		ENST00000231461		ENSG00000113532	10871		29			HGNC	p.P302P		ST8SIA4		SNV							ENST00000231461	protein_coding			Pfam_domain:PF00777,PIRSF_domain:PIRSF005557,hmmpanther:PTHR11987,hmmpanther:PTHR11987:SF31		P		A		1217/6303							YES	ST8SIA4,synonymous_variant,p.=,ENST00000231461,NM_005668.5;MIR548P,downstream_gene_variant,,ENST00000408336,;							LOW	906/1080		SIA8D_HUMAN			Transcript			.	ENSP00000231461		CCDS4091.1			1	
PCDHGB7	0	LGGM	GRCh37	5	140798242	140798242	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	52	26	.	.	ENST00000398594.2:c.816C>A	p.Gly272=	p.G272=	ENST00000398594	NM_018927.3	272	ggC/ggA	0	1	1	UPI000007141F	0		ENST00000398594		ENSG00000254122	8714		78			HGNC	p.G272G		PCDHGB7		SNV							ENST00000398594	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,SMART_domains:SM00112,Superfamily_domains:SSF49313		G		A		816/4596				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB7,synonymous_variant,p.=,ENST00000398594,NM_018927.3;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;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;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;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;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,upstream_gene_variant,,ENST00000518882,;							LOW	816/2790		PCDGJ_HUMAN			Transcript			.	ENSP00000381594		CCDS47293.1			1	
ASXL3	0	LGGM	GRCh37	18	31326156	31326156	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	80	26	.	.	ENST00000269197.5:c.6344T>C	p.Phe2115Ser	p.F2115S	ENST00000269197	NM_030632.1	2115	tTc/tCc	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		106	0.695		HGNC	p.F2115S		ASXL3		SNV			1				ENST00000269197	protein_coding	getma.org/?cm=var&var=hg19,18,31326156,T,C&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		F/S		C	neutral	6344/11344		getma.org/?cm=msa&ty=f&p=ASXL3_HUMAN&rb=1968&re=2167&var=F2115S		K7EQY1_HUMAN			YES	ASXL3,missense_variant,p.Phe2115Ser,ENST00000269197,NM_030632.1;ASXL3,downstream_gene_variant,,ENST00000592288,;							MODERATE	6344/6747	F2115S	ASXL3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000269197		CCDS45847.1			1	
PTGS2	0	LGGM	GRCh37	1	186643629	186643629	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	54	27	.	.	ENST00000367468.5:c.1671C>G	p.Asn557Lys	p.N557K	ENST00000367468	NM_000963.2	557	aaC/aaG	0	1	1	UPI000000D926	0	getma.org/pdb.php?prot=PGH2_HUMAN&from=126&to=569&var=N557K	ENST00000367468		ENSG00000073756	9605		81	3.41		HGNC	p.N557K		PTGS2		SNV							ENST00000367468	protein_coding	getma.org/?cm=var&var=hg19,1,186643629,G,C&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,Prints_domain:PR00457,PROSITE_profiles:PS50292,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF8,Superfamily_domains:SSF48113		N/K		C	medium	1808/4514		getma.org/?cm=msa&ty=f&p=PGH2_HUMAN&rb=126&re=569&var=N557K	deleterious(0)	D9MWI3_HUMAN			YES	PTGS2,missense_variant,p.Asn557Lys,ENST00000367468,NM_000963.2;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,non_coding_transcript_exon_variant,,ENST00000466691,;PTGS2,downstream_gene_variant,,ENST00000559800,;PTGS2,3_prime_UTR_variant,,ENST00000559627,;							MODERATE	1671/1815	N557K	PGH2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356438		CCDS1371.1			1	
DIDO1	0	LGGM	GRCh37	20	61512886	61512886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	44	28	.	.	ENST00000266070.4:c.4422G>T	p.Glu1474Asp	p.E1474D	ENST00000266070	NM_033081.2	1474	gaG/gaT	0	1	1	UPI0000206380	0	NA	ENST00000266070		ENSG00000101191	2680		72	1.885		HGNC	p.E1474D		DIDO1		SNV							ENST00000266070	protein_coding	getma.org/?cm=var&var=hg19,20,61512886,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914		E/D		A	low	4748/8544		getma.org/?cm=msa&ty=f&p=DIDO1_HUMAN&rb=1364&re=1563&var=E1474D					YES	DIDO1,missense_variant,p.Glu1474Asp,ENST00000266070,NM_033081.2;DIDO1,missense_variant,p.Glu1474Asp,ENST00000395343,NM_001193369.1;							MODERATE	4422/6723	E1474D	DIDO1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000266070		CCDS33506.1			1	
LMLN	0	LGGM	GRCh37	3	197748404	197748404	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	46	28	.	.	ENST00000420910.2:c.1564C>G	p.Gln522Glu	p.Q522E	ENST00000420910	NM_001136049.2	522	Cag/Gag	0	1		UPI00001B0155	0	NA	ENST00000330198		ENSG00000185621	15991		74	1.54		HGNC	p.Q433E		LMLN		SNV							ENST00000332636	protein_coding	getma.org/?cm=var&var=hg19,3,197748404,C,G&fts=all		Gene3D:1lmlA03,Pfam_domain:PF01457,hmmpanther:PTHR10942,Superfamily_domains:SSF55486		Q/E		G	low	1475/7043		getma.org/?cm=msa&ty=f&p=LMLN_HUMAN&rb=412&re=605&var=Q485E	deleterious(0)					LMLN,missense_variant,p.Gln485Glu,ENST00000330198,NM_033029.3;LMLN,missense_variant,p.Gln522Glu,ENST00000420910,NM_001136049.2;LMLN,missense_variant,p.Gln470Glu,ENST00000482695,;LMLN,missense_variant,p.Gln433Glu,ENST00000332636,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;LMLN,downstream_gene_variant,,ENST00000476356,;							MODERATE	1453/1968	Q485E	LMLN_HUMAN			Transcript		benign(0.07)	.	ENSP00000328829		CCDS3332.1			1	
FANCA	0	LGGM	GRCh37	16	89825029	89825029	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	47	29	.	.	ENST00000389301.3:c.2937T>C	p.Ala979=	p.A979=	ENST00000389301	NM_000135.2	979	gcT/gcC	0	1	1	UPI0000520A1A	0		ENST00000389301		ENSG00000187741	3582		76			HGNC	p.A979A	rs762638564	FANCA		SNV			1	0.000288			ENST00000568369	protein_coding			hmmpanther:PTHR12047		A		G		2968/5451				H3BT53_HUMAN			YES	FANCA,synonymous_variant,p.=,ENST00000389301,NM_000135.2;FANCA,synonymous_variant,p.=,ENST00000568369,NM_001286167.1;FANCA,synonymous_variant,p.=,ENST00000567988,;FANCA,synonymous_variant,p.=,ENST00000561660,;FANCA,3_prime_UTR_variant,,ENST00000563318,;FANCA,intron_variant,,ENST00000305699,;FANCA,intron_variant,,ENST00000563510,;							LOW	2937/4368		FANCA_HUMAN			Transcript			.	ENSP00000373952	2.47E-05	CCDS32515.1			1	
ADCY2	0	LGGM	GRCh37	5	7414797	7414797	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	47	29	.	.	ENST00000338316.4:c.322C>T	p.Leu108Phe	p.L108F	ENST00000338316	NM_020546.2	108	Ctc/Ttc	0	1	1	UPI000066D9F2	0	NA	ENST00000338316		ENSG00000078295	233		76	1.01		HGNC	p.L108F		ADCY2		SNV							ENST00000338316	protein_coding	getma.org/?cm=var&var=hg19,5,7414797,C,T&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix		L/F		T	low	411/6575		getma.org/?cm=msa&ty=f&p=ADCY2_HUMAN&rb=72&re=135&var=L108F	tolerated(0.09)	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN			YES	ADCY2,missense_variant,p.Leu108Phe,ENST00000338316,NM_020546.2;ADCY2,non_coding_transcript_exon_variant,,ENST00000498598,;ADCY2,non_coding_transcript_exon_variant,,ENST00000484965,;							MODERATE	322/3276	L108F	ADCY2_HUMAN			Transcript		benign(0.003)	.	ENSP00000342952		CCDS3872.2			1	
ADCY2	0	LGGM	GRCh37	5	7414796	7414796	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	47	29	.	.	ENST00000338316.4:c.321C>G	p.Arg107=	p.R107=	ENST00000338316	NM_020546.2	107	cgC/cgG	0	1	1	UPI000066D9F2	0		ENST00000338316		ENSG00000078295	233		76			HGNC	p.R107R		ADCY2		SNV							ENST00000338316	protein_coding			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix		R		G		410/6575				Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN			YES	ADCY2,synonymous_variant,p.=,ENST00000338316,NM_020546.2;ADCY2,non_coding_transcript_exon_variant,,ENST00000498598,;ADCY2,non_coding_transcript_exon_variant,,ENST00000484965,;							LOW	321/3276		ADCY2_HUMAN			Transcript			.	ENSP00000342952		CCDS3872.2			1	
KIAA1432	0	LGGM	GRCh37	9	5770142	5770142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	41	29	.	.	ENST00000414202.2:c.3480G>T	p.Met1160Ile	p.M1160I	ENST00000414202	NM_001206557.1	1160	atG/atT	0	1	1	UPI00002110DE	0	NA	ENST00000414202		ENSG00000107036	17686		70	1.06		HGNC	p.M1081I		KIAA1432		SNV							ENST00000418622	protein_coding	getma.org/?cm=var&var=hg19,9,5770142,G,T&fts=all		hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10		M/I		T	low	3671/6774		getma.org/?cm=msa&ty=f&p=RIC1_HUMAN&rb=995&re=1194&var=M1160I	tolerated(0.3)				YES	KIAA1432,missense_variant,p.Met1160Ile,ENST00000414202,NM_001206557.1,NM_020829.3;KIAA1432,missense_variant,p.Met1081Ile,ENST00000418622,;KIAA1432,missense_variant,p.Met1052Ile,ENST00000545641,;KIAA1432,missense_variant,p.Met1044Ile,ENST00000449720,;KIAA1432,downstream_gene_variant,,ENST00000251879,NM_001135920.2;KIAA1432,downstream_gene_variant,,ENST00000381532,;KIAA1432,upstream_gene_variant,,ENST00000490816,;KIAA1432,3_prime_UTR_variant,,ENST00000545243,;ERMP1,intron_variant,,ENST00000462592,;KIAA1432,downstream_gene_variant,,ENST00000276898,;							MODERATE	3480/4272	M1160I	RIC1_HUMAN			Transcript		benign(0)	.	ENSP00000416696		CCDS34982.2			1	
RP11-480I12.4	0	LGGM	GRCh37	1	202794748	202794748	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	54	30	.	.	ENST00000330493.5:c.114C>A	p.Asn38Lys	p.N38K	ENST00000330493		38	aaC/aaA	0	1	1	UPI0000161151	0		ENST00000330493		ENSG00000184774			84			Clone_based_vega_gene	p.N38K		RP11-480I12.4		SNV							ENST00000330493	protein_coding			Pfam_domain:PF04666,hmmpanther:PTHR12062,hmmpanther:PTHR12062:SF3		N/K		A		1205/2810							YES	RP11-480I12.4,missense_variant,p.Asn38Lys,ENST00000330493,;RP11-480I12.4,missense_variant,p.Asn38Lys,ENST00000549576,;							MODERATE	114/618		MGT4L_HUMAN			Transcript		benign(0.017)	.	ENSP00000446921					1	
PTCHD3	0	LGGM	GRCh37	10	27688012	27688012	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	30	31	.	.	ENST00000438700.3:c.1515T>A	p.Ile505=	p.I505=	ENST00000438700	NM_001034842.3	505	atT/atA	0	1	1	UPI000004E892	0		ENST00000438700		ENSG00000182077	24776		61			HGNC	p.I505I		PTCHD3		SNV							ENST00000438700	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460,Gene3D:2j8sB01,Superfamily_domains:SSF82866		I		T		1633/2529				I0CMK0_HUMAN			YES	PTCHD3,synonymous_variant,p.=,ENST00000438700,NM_001034842.3;							LOW	1515/2304		PTHD3_HUMAN			Transcript			.	ENSP00000417658		CCDS31173.1			1	
DENND5A	0	LGGM	GRCh37	11	9200422	9200422	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	45	31	.	.	ENST00000328194.3:c.1654A>T	p.Met552Leu	p.M552L	ENST00000328194	NM_015213.3	552	Atg/Ttg	0	1	1	UPI00001C1F29	0	NA	ENST00000328194		ENSG00000184014	19344		76	1.2		HGNC	p.M552L		DENND5A		SNV							ENST00000530044	protein_coding	getma.org/?cm=var&var=hg19,11,9200422,T,A&fts=all		Pfam_domain:PF03455,PROSITE_profiles:PS50947,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,SMART_domains:SM00801		M/L		A	low	1975/5031		getma.org/?cm=msa&ty=f&p=DEN5A_HUMAN&rb=512&re=588&var=M552L	tolerated(0.11)	B3KWN5_HUMAN			YES	DENND5A,missense_variant,p.Met552Leu,ENST00000328194,NM_015213.3,NM_001243254.1;DENND5A,missense_variant,p.Met552Leu,ENST00000530044,;DENND5A,upstream_gene_variant,,ENST00000526523,;DENND5A,missense_variant,p.Met528Leu,ENST00000526707,;DENND5A,missense_variant,p.Met15Leu,ENST00000527896,;DENND5A,non_coding_transcript_exon_variant,,ENST00000530867,;							MODERATE	1654/3864	M552L	DEN5A_HUMAN			Transcript		benign(0.377)	.	ENSP00000328524		CCDS31423.1			1	
PCDHGA1	0	LGGM	GRCh37	5	140710386	140710386	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	64	31	.	.	ENST00000517417.1:c.135A>G	p.Val45=	p.V45=	ENST00000517417	NM_018912.2	45	gtA/gtG	0	1	1	UPI0000070596	0		ENST00000517417		ENSG00000204956	8696		95			HGNC	p.V45V	rs781123376	PCDHGA1		SNV							ENST00000517417	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		G		135/4602				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA1,synonymous_variant,p.=,ENST00000517417,NM_018912.2;PCDHGA1,synonymous_variant,p.=,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;	0.000116						LOW	135/2796		PCDG1_HUMAN			Transcript			.	ENSP00000431083	8.24E-06	CCDS54922.1			1	
PRAMEF12	0	LGGM	GRCh37	1	12837394	12837394	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	76	33	.	.	ENST00000357726.4:c.1104C>G	p.Ile368Met	p.I368M	ENST00000357726	NM_001080830.1	368	atC/atG	0	1	1	UPI000013A190	0	NA	ENST00000357726		ENSG00000116726	22125		109	3.135		HGNC	p.I368M		PRAMEF12		SNV							ENST00000357726	protein_coding	getma.org/?cm=var&var=hg19,1,12837394,C,G&fts=all		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047		I/M		G	medium	1131/1786		getma.org/?cm=msa&ty=f&p=PRA12_HUMAN&rb=201&re=400&var=I368M	deleterious(0)				YES	PRAMEF12,missense_variant,p.Ile368Met,ENST00000357726,NM_001080830.1;							MODERATE	1104/1452	I368M	PRA12_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000350358		CCDS41254.1			1	
NUCB2	0	LGGM	GRCh37	11	17333425	17333425	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092489	H092489N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	76	34	.	.	ENST00000529010.1:c.767A>G	p.Asn256Ser	p.N256S	ENST00000529010	NM_005013.2	256	aAt/aGt	0	1	1	UPI000013D6B1	0	getma.org/pdb.php?prot=NUCB2_HUMAN&from=133&to=322&var=N256S	ENST00000529010		ENSG00000070081	8044		110	3.115		HGNC	p.N256S	rs748896954	NUCB2		SNV							ENST00000533773	protein_coding	getma.org/?cm=var&var=hg19,11,17333425,A,G&fts=all		Superfamily_domains:SSF47473,SMART_domains:SM00054,Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,hmmpanther:PTHR19237:SF22,hmmpanther:PTHR19237,PROSITE_profiles:PS50222		N/S		G	medium	986/2274		getma.org/?cm=msa&ty=f&p=NUCB2_HUMAN&rb=133&re=322&var=N256S	deleterious(0.02)	E9PRQ3_HUMAN,E9PM22_HUMAN,E9PLR5_HUMAN,E9PLR0_HUMAN,E9PLE9_HUMAN,E9PJP3_HUMAN			YES	NUCB2,missense_variant,p.Asn256Ser,ENST00000529010,NM_005013.2;NUCB2,missense_variant,p.Asn256Ser,ENST00000323688,;NUCB2,missense_variant,p.Asn256Ser,ENST00000458064,;NUCB2,missense_variant,p.Asn64Ser,ENST00000527580,;NUCB2,downstream_gene_variant,,ENST00000530527,;NUCB2,downstream_gene_variant,,ENST00000529313,;NUCB2,upstream_gene_variant,,ENST00000527735,;NUCB2,missense_variant,p.Asn256Ser,ENST00000533773,;NUCB2,non_coding_transcript_exon_variant,,ENST00000531242,;							MODERATE	767/1263	N256S	NUCB2_HUMAN	0.000454		Transcript		possibly_damaging(0.732)	common_variant	ENSP00000436455	2.48E-05	CCDS41623.1			1	
IMPG2	0	LGGM	GRCh37	3	100964737	100964737	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	74	36	.	.	ENST00000193391.7:c.1452G>A	p.Leu484=	p.L484=	ENST00000193391	NM_016247.3	484	ttG/ttA	0	1	1	UPI000013C605	0		ENST00000193391		ENSG00000081148	18362		110			HGNC	p.L484L		IMPG2		SNV			1				ENST00000193391	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199		L		T		1640/8337				F1T0J3_HUMAN			YES	IMPG2,synonymous_variant,p.=,ENST00000193391,NM_016247.3;							LOW	1452/3726		IMPG2_HUMAN			Transcript			.	ENSP00000193391		CCDS2940.1			1	
CEACAM18	0	LGGM	GRCh37	19	51986481	51986481	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	114	37	.	.	ENST00000451626.1:c.1067G>T	p.Arg356Leu	p.R356L	ENST00000451626		356	cGa/cTa	0	1		UPI0002C5E52C	0	NA	ENST00000396477		ENSG00000213822	31949		151	2.32		HGNC	p.R295L		CEACAM18		SNV							ENST00000396477	protein_coding	getma.org/?cm=var&var=hg19,19,51986481,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/L		T	medium	905/1476		getma.org/?cm=msa&ty=f&p=CEA18_HUMAN&rb=292&re=374&var=R356L	deleterious(0.01)					CEACAM18,missense_variant,p.Arg295Leu,ENST00000396477,NM_001278392.1;CEACAM18,missense_variant,p.Arg356Leu,ENST00000451626,;							MODERATE	884/1155	R356L	CEA18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379738					1	
ZNF257	0	LGGM	GRCh37	19	22271550	22271550	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	72	37	.	.	ENST00000594947.1:c.998G>A	p.Arg333Gln	p.R333Q	ENST00000594947	NM_033468.2	333	cGa/cAa	0	1	1	UPI0000E045CA	0	getma.org/pdb.php?prot=ZN257_HUMAN&from=330&to=355&var=R333Q	ENST00000594947		ENSG00000197134	13498		109	0.025		HGNC	p.R333Q	COSM286776	ZNF257		SNV						1	ENST00000594947	protein_coding	getma.org/?cm=var&var=hg19,19,22271550,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF109,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/Q		A	neutral	1142/3874		getma.org/?cm=msa&ty=f&p=ZN257_HUMAN&rb=310&re=375&var=R333Q	tolerated(0.21)	M0R0N1_HUMAN			YES	ZNF257,missense_variant,p.Arg333Gln,ENST00000594947,NM_033468.2;ZNF257,downstream_gene_variant,,ENST00000600162,;ZNF257,downstream_gene_variant,,ENST00000597927,;ZNF257,3_prime_UTR_variant,,ENST00000435820,;					1		MODERATE	998/1692	R333Q	ZN257_HUMAN			Transcript		benign(0.013)	.	ENSP00000470209		CCDS46030.1			1	
UBE3A	0	LGGM	GRCh37	15	25616694	25616694	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	65	40	.	.	ENST00000397954.2:c.636A>G	p.Ser212=	p.S212=	ENST00000397954		212	tcA/tcG	0	1	1	UPI0000161F3B	0		ENST00000397954		ENSG00000114062	12496		105			HGNC	p.S189S	rs542217785	UBE3A	6.06E-05	SNV			1				ENST00000566215	protein_coding		C:0	Low_complexity_(Seg):seg,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,PIRSF_domain:PIRSF037201		S		C		636/2628				Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN	C:0	C:0	YES	UBE3A,synonymous_variant,p.=,ENST00000232165,NM_130839.2,NM_000462.3;UBE3A,synonymous_variant,p.=,ENST00000438097,NM_130838.1;UBE3A,synonymous_variant,p.=,ENST00000566215,;UBE3A,synonymous_variant,p.=,ENST00000428984,;UBE3A,synonymous_variant,p.=,ENST00000397954,;SNHG14,intron_variant,,ENST00000554726,;		C:0.0002					LOW	636/2628		UBE3A_HUMAN		C:0	Transcript			.	ENSP00000381045	8.24E-06	CCDS45192.1		C:0.001	1	
UBE3A	0	LGGM	GRCh37	15	25616683	25616683	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	68	40	.	.	ENST00000397954.2:c.647A>G	p.Asp216Gly	p.D216G	ENST00000397954		216	gAt/gGt	0	1	1	UPI0000161F3B	0	NA	ENST00000397954		ENSG00000114062	12496		108	-0.895		HGNC	p.D193G		UBE3A		SNV			1				ENST00000566215	protein_coding	getma.org/?cm=var&var=hg19,15,25616683,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,PIRSF_domain:PIRSF037201		D/G		C	neutral	647/2628		getma.org/?cm=msa&ty=f&p=UBE3A_HUMAN&rb=11&re=495&var=D216G	tolerated(0.23)	Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN			YES	UBE3A,missense_variant,p.Asp213Gly,ENST00000232165,NM_130839.2,NM_000462.3;UBE3A,missense_variant,p.Asp193Gly,ENST00000438097,NM_130838.1;UBE3A,missense_variant,p.Asp193Gly,ENST00000566215,;UBE3A,missense_variant,p.Asp193Gly,ENST00000428984,;UBE3A,missense_variant,p.Asp216Gly,ENST00000397954,;SNHG14,intron_variant,,ENST00000554726,;							MODERATE	647/2628	D216G	UBE3A_HUMAN			Transcript		benign(0)	.	ENSP00000381045		CCDS45192.1			1	
COL24A1	0	LGGM	GRCh37	1	86289411	86289411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	95	43	.	.	ENST00000370571.2:c.3692G>T	p.Gly1231Val	p.G1231V	ENST00000370571	NM_152890.5	1231	gGt/gTt	0	1	1	UPI000013E81F	0	getma.org/pdb.php?prot=COOA1_HUMAN&from=1197&to=1260&var=G1231V	ENST00000370571		ENSG00000171502	20821		138	4.105		HGNC	p.G1231V	COSM3934838	COL24A1		SNV						1	ENST00000370571	protein_coding	getma.org/?cm=var&var=hg19,1,86289411,C,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		G/V		A	high	4059/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=1197&re=1260&var=G1231V	deleterious(0)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Gly1231Val,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Gly1231Val,ENST00000436319,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;					1		MODERATE	3692/5145	G1231V	COOA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359603		CCDS41353.1			1	
PALMD	0	LGGM	GRCh37	1	100133275	100133275	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	58	44	.	.	ENST00000263174.4:c.204T>C	p.Asn68=	p.N68=	ENST00000263174	NM_017734.4	68	aaT/aaC	0	1	1	UPI000006DDD8	0		ENST00000263174		ENSG00000099260	15846		102			HGNC	p.N68N		PALMD		SNV							ENST00000263174	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03285,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF5,Low_complexity_(Seg):seg		N		C		579/2510							YES	PALMD,synonymous_variant,p.=,ENST00000263174,NM_017734.4;PALMD,synonymous_variant,p.=,ENST00000605497,;PALMD,non_coding_transcript_exon_variant,,ENST00000605613,;							LOW	204/1656		PALMD_HUMAN			Transcript			.	ENSP00000263174		CCDS758.1			1	
CCNYL2	0	LGGM	GRCh37	10	42928800	42928800	+	splice_region_variant,non_coding_transcript_exon_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H092489	H092489N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	80	46	.	.	ENST00000483242.3:n.701A>G		p.X234_splice	ENST00000483242				0	1	1		0		ENST00000483242		ENSG00000182632	23495		126			HGNC	p.V111V	rs754698071	CCNYL2		SNV							ENST00000426433	processed_transcript							C		701/3311	1.55E-05						YES	CCNYL2,splice_region_variant,,ENST00000483242,;CCNYL2,splice_region_variant,,ENST00000472090,;CCNYL2,splice_region_variant,,ENST00000426433,;							LOW						Transcript			.		8.27E-06				1	
HAS2	0	LGGM	GRCh37	8	122641376	122641376	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	88	50	.	.	ENST00000303924.4:c.205C>T	p.Arg69Ter	p.R69*	ENST00000303924	NM_005328.2	69	Cga/Tga	0	1	1	UPI000012C0A9	0	NA	ENST00000303924		ENSG00000170961	4819		138	0		HGNC	p.R69X		HAS2		SNV							ENST00000303924	protein_coding	getma.org/?cm=var&var=hg19,8,122641376,G,A&fts=all		hmmpanther:PTHR22913,hmmpanther:PTHR22913:SF7		R/*		A	NA	743/4190		NA					YES	HAS2,stop_gained,p.Arg69Ter,ENST00000303924,NM_005328.2;							HIGH	205/1659	R69*	HYAS2_HUMAN			Transcript			.	ENSP00000306991		CCDS6335.1			1	
RYR2	0	LGGM	GRCh37	1	237755096	237755096	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092489	H092489N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	121	55	.	.	ENST00000366574.2:c.4218C>T	p.Thr1406=	p.T1406=	ENST00000366574	NM_001035.2	1406	acC/acT	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		176			HGNC	p.T1390T	rs368817788	RYR2		SNV	A:0.0003		1				ENST00000542537	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		T	A:0	T		4535/16562	4.69E-05			H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;							LOW	4218/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533	2.48E-05	CCDS55691.1			1	
FNBP4	0	LGGM	GRCh37	11	47767705	47767705	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	67	57	.	.	ENST00000263773.5:c.1148C>G	p.Ser383Cys	p.S383C	ENST00000263773	NM_015308.2	383	tCt/tGt	0	1	1	UPI0000DBEF37	0	NA	ENST00000263773		ENSG00000109920	19752		124	0.805		HGNC	p.S383C		FNBP4		SNV							ENST00000263773	protein_coding	getma.org/?cm=var&var=hg19,11,47767705,G,C&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF186		S/C		C	low	1161/3969		getma.org/?cm=msa&ty=f&p=FNBP4_HUMAN&rb=351&re=515&var=S383C	tolerated(0.05)				YES	FNBP4,missense_variant,p.Ser383Cys,ENST00000263773,NM_015308.2;FNBP4,non_coding_transcript_exon_variant,,ENST00000534003,;FNBP4,upstream_gene_variant,,ENST00000528388,;FNBP4,upstream_gene_variant,,ENST00000527894,;FNBP4,non_coding_transcript_exon_variant,,ENST00000544590,;							MODERATE	1148/3054	S383C	FNBP4_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000263773		CCDS41644.1			1	
SPATA31D1	0	LGGM	GRCh37	9	84606274	84606274	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092489	H092489N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092489N.bam, H092489T.bam	Illumina HiSeq	193	127	.	.	ENST00000344803.2:c.889G>A	p.Gly297Arg	p.G297R	ENST00000344803	NM_001001670.2	297	Gga/Aga	0	1	1	UPI00001C10A6	0	NA	ENST00000344803		ENSG00000214929	37283		320	0		HGNC	p.G297R	rs373603059	SPATA31D1		SNV	A:0.0003						ENST00000344803	protein_coding	getma.org/?cm=var&var=hg19,9,84606274,G,A&fts=all	A:0	hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859		G/R	A:0	A	neutral	936/4833		getma.org/?cm=msa&ty=f&p=F75D1_HUMAN&rb=1&re=339&var=G297R	tolerated(0.25)		A:0	A:0	YES	SPATA31D1,missense_variant,p.Gly297Arg,ENST00000344803,NM_001001670.2;SPATA31D1,downstream_gene_variant,,ENST00000603921,;		A:0.0002					MODERATE	889/4731	G297R	S31D1_HUMAN		A:0.001	Transcript		benign(0.05)	.	ENSP00000341988		CCDS47986.1		A:0	1	
CXorf28	0	LGGM	GRCh37	X	3202201	3202201	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	12	2	.	.	ENST00000457435.1:c.168C>G	p.Leu56=	p.L56=	ENST00000457435		56	ctC/ctG	0	1	1	UPI000059DAB4	0		ENST00000457435		ENSG00000228459	27336		14			HGNC	p.L56L		CXorf28		SNV							ENST00000457435	protein_coding					L		G		181/674							YES	CXorf28,synonymous_variant,p.=,ENST00000457435,;							LOW	168/189		CX028_HUMAN			Transcript			.	ENSP00000387744					1	
MC1R	0	LGGM	GRCh37	16	89985766	89985766	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	7	2	.	.	ENST00000555147.1:c.100C>T	p.Arg34Trp	p.R34W	ENST00000555147	NM_002386.3	34	Cgg/Tgg	0	1	1	UPI00000622C3	0	NA	ENST00000555147		ENSG00000258839	6929		9	-0.895		HGNC	p.R34W	rs376679503,COSM1520265	MC1R		SNV	T:0		1			0,1	ENST00000555147	protein_coding	getma.org/?cm=var&var=hg19,16,89985766,C,T&fts=all		hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF2		R/W	T:0.0002	T	neutral	1480/3099	1.63E-05	getma.org/?cm=msa&ty=f&p=MSHR_HUMAN&rb=1&re=54&var=R34W	tolerated(0.15)	Q1JUL4_HUMAN			YES	MC1R,missense_variant,p.Arg34Trp,ENST00000555427,;MC1R,missense_variant,p.Arg34Trp,ENST00000555147,NM_002386.3;TUBB3,missense_variant,p.Arg34Trp,ENST00000556922,;TUBB3,upstream_gene_variant,,ENST00000554444,NM_001197181.1;TUBB3,upstream_gene_variant,,ENST00000315491,NM_006086.3;TUBB3,upstream_gene_variant,,ENST00000554336,;TUBB3,upstream_gene_variant,,ENST00000555810,;TUBB3,upstream_gene_variant,,ENST00000553967,;TUBB3,upstream_gene_variant,,ENST00000555576,;TUBB3,upstream_gene_variant,,ENST00000556565,;RP11-566K11.4,downstream_gene_variant,,ENST00000554623,;TUBB3,upstream_gene_variant,,ENST00000554116,;MC1R,downstream_gene_variant,,ENST00000539976,;TUBB3,upstream_gene_variant,,ENST00000555609,;TUBB3,upstream_gene_variant,,ENST00000556536,;TUBB3,upstream_gene_variant,,ENST00000557262,;TUBB3,upstream_gene_variant,,ENST00000557490,;TUBB3,upstream_gene_variant,,ENST00000554927,;RP11-566K11.7,downstream_gene_variant,,ENST00000570217,;TUBB3,upstream_gene_variant,,ENST00000553656,;AC092143.1,non_coding_transcript_exon_variant,,ENST00000540694,;					0,1		MODERATE	100/954	R34W	MSHR_HUMAN			Transcript		benign(0)	.	ENSP00000451605	8.28E-06	CCDS56011.1			1	
GAPVD1	0	LGGM	GRCh37	9	128064805	128064805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	45	3	.	.	ENST00000394105.2:c.729C>A	p.Phe243Leu	p.F243L	ENST00000394105	NM_015635.2	243	ttC/ttA	0	1		UPI000165C132	0	getma.org/pdb.php?prot=GAPD1_HUMAN&from=152&to=353&var=F243L	ENST00000394104		ENSG00000165219	23375		48	1.385		HGNC	p.F243L		GAPVD1		SNV							ENST00000297933	protein_coding	getma.org/?cm=var&var=hg19,9,128064805,C,A&fts=all		PROSITE_profiles:PS50018,hmmpanther:PTHR23101:SF55,hmmpanther:PTHR23101,Gene3D:1.10.506.10,Pfam_domain:PF00616,Superfamily_domains:SSF48350		F/L		A	low	889/6861		getma.org/?cm=msa&ty=f&p=GAPD1_HUMAN&rb=152&re=353&var=F243L	deleterious(0.01)	C9IZX9_HUMAN,C9IZ08_HUMAN				GAPVD1,missense_variant,p.Phe243Leu,ENST00000470056,;GAPVD1,missense_variant,p.Phe243Leu,ENST00000394104,NM_001282679.1;GAPVD1,missense_variant,p.Phe243Leu,ENST00000265956,;GAPVD1,missense_variant,p.Phe243Leu,ENST00000297933,NM_001282680.1;GAPVD1,missense_variant,p.Phe243Leu,ENST00000495955,;GAPVD1,missense_variant,p.Phe243Leu,ENST00000394105,NM_015635.2;GAPVD1,missense_variant,p.Phe243Leu,ENST00000394083,;GAPVD1,missense_variant,p.Phe243Leu,ENST00000312123,NM_001282681.1;GAPVD1,missense_variant,p.Phe243Leu,ENST00000394084,;GAPVD1,missense_variant,p.Phe243Leu,ENST00000467750,;GAPVD1,missense_variant,p.Phe106Leu,ENST00000431329,;GAPVD1,missense_variant,p.Phe74Leu,ENST00000436712,;GAPVD1,downstream_gene_variant,,ENST00000461379,;RNU6-1020P,downstream_gene_variant,,ENST00000363684,;GAPVD1,missense_variant,p.Phe243Leu,ENST00000497580,;							MODERATE	729/4437	F243L	GAPD1_HUMAN			Transcript		benign(0.345)	.	ENSP00000377664		CCDS65132.1			1	
HYDIN	0	LGGM	GRCh37	16	71007751	71007751	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	32	3	.	.	ENST00000393567.2:c.5210G>T	p.Ser1737Ile	p.S1737I	ENST00000393567	NM_001270974.1	1737	aGc/aTc	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		35	1.355		HGNC	p.S1737I		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,71007751,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		S/I		A	low	5361/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=1&re=1902&var=S1737I		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Ser1737Ile,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;							MODERATE	5210/15366	S1737I	HYDIN_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000377197		CCDS59269.1			1	
FAM131C	0	LGGM	GRCh37	1	16386442	16386442	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	19	3	.	.	ENST00000375662.4:c.373G>T	p.Gly125Cys	p.G125C	ENST00000375662	NM_182623.2	125	Ggc/Tgc	0	1	1	UPI000022B016	0	NA	ENST00000375662		ENSG00000185519	26717		22	2.215		HGNC	p.G125C		FAM131C		SNV							ENST00000375662	protein_coding	getma.org/?cm=var&var=hg19,1,16386442,C,A&fts=all		Pfam_domain:PF15010,hmmpanther:PTHR15736,hmmpanther:PTHR15736:SF2		G/C		A	medium	557/1695		getma.org/?cm=msa&ty=f&p=F131C_HUMAN&rb=9&re=278&var=G125C	deleterious(0)				YES	FAM131C,missense_variant,p.Gly125Cys,ENST00000375662,NM_182623.2;CLCNKB,downstream_gene_variant,,ENST00000375679,NM_000085.4;CLCNKB,downstream_gene_variant,,ENST00000375667,NM_001165945.2;CLCNKB,downstream_gene_variant,,ENST00000431772,;FAM131C,non_coding_transcript_exon_variant,,ENST00000494078,;							MODERATE	373/843	G125C	F131C_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000364814		CCDS41270.1			1	
TNRC6B	0	LGGM	GRCh37	22	40669465	40669465	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	15	3	.	.	ENST00000454349.2:c.3002A>T	p.Asp1001Val	p.D1001V	ENST00000454349	NM_001162501.1	1001	gAc/gTc	0	1	1	UPI00017A6F19	0	NA	ENST00000454349		ENSG00000100354	29190		18	2.14		HGNC	p.D1001V		TNRC6B		SNV							ENST00000454349	protein_coding	getma.org/?cm=var&var=hg19,22,40669465,A,T&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32,Pfam_domain:PF10427		D/V		T	medium	3213/18279		getma.org/?cm=msa&ty=f&p=TNR6B_HUMAN&rb=921&re=1061&var=D1001V	deleterious(0.03)				YES	TNRC6B,missense_variant,p.Asp1001Val,ENST00000454349,NM_001162501.1;TNRC6B,missense_variant,p.Asp948Val,ENST00000335727,NM_015088.2;TNRC6B,missense_variant,p.Asp254Val,ENST00000301923,NM_001024843.1;TNRC6B,missense_variant,p.Asp744Val,ENST00000446273,;TNRC6B,missense_variant,p.Asp254Val,ENST00000402203,;TNRC6B,upstream_gene_variant,,ENST00000497559,;							MODERATE	3002/5502	D1001V	TNR6B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401946		CCDS54533.1			1	
KIAA1586	0	LGGM	GRCh37	6	56918088	56918088	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	38	3	.	.	ENST00000370733.4:c.791C>A	p.Ser264Tyr	p.S264Y	ENST00000370733	NM_020931.2	264	tCt/tAt	0	1	1	UPI0000074573	0	NA	ENST00000370733		ENSG00000168116	21360		41	0		HGNC	p.S237Y		KIAA1586		SNV							ENST00000545356	protein_coding	getma.org/?cm=var&var=hg19,6,56918088,C,A&fts=all				S/Y		A	neutral	998/2933		getma.org/?cm=msa&ty=f&p=K1586_HUMAN&rb=201&re=400&var=S264Y	deleterious(0)				YES	KIAA1586,missense_variant,p.Ser264Tyr,ENST00000370733,NM_020931.2,NM_001286275.1,NM_001286276.1;KIAA1586,missense_variant,p.Ser237Tyr,ENST00000545356,NM_001286274.1;KIAA1586,downstream_gene_variant,,ENST00000488682,;							MODERATE	791/2364	S264Y	K1586_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000359768		CCDS34480.1			1	
HOXD3	0	LGGM	GRCh37	2	177036508	177036508	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	36	3	.	.	ENST00000468418.3:c.805C>G	p.Arg269Gly	p.R269G	ENST00000468418		269	Cgc/Ggc	0	1		UPI000013CC84	0	NA	ENST00000249440		ENSG00000128652	5137		39	1.255		HGNC	p.R269G		HOXD3		SNV							ENST00000410016	protein_coding	getma.org/?cm=var&var=hg19,2,177036508,C,G&fts=all		hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF4		R/G		G	low	981/2303		getma.org/?cm=msa&ty=f&p=HXD3_HUMAN&rb=252&re=367&var=R269G	tolerated(0.93)	C9J1M3_HUMAN				HOXD3,missense_variant,p.Arg269Gly,ENST00000468418,;HOXD3,missense_variant,p.Arg269Gly,ENST00000410016,;HOXD3,missense_variant,p.Arg269Gly,ENST00000249440,NM_006898.4;HOXD3,downstream_gene_variant,,ENST00000432796,;HOXD-AS1,downstream_gene_variant,,ENST00000416928,;HOXD-AS1,downstream_gene_variant,,ENST00000417086,;HOXD-AS1,downstream_gene_variant,,ENST00000436126,;HOXD-AS1,downstream_gene_variant,,ENST00000547207,;HOXD-AS1,downstream_gene_variant,,ENST00000452365,;HOXD-AS1,downstream_gene_variant,,ENST00000456876,;HOXD-AS1,downstream_gene_variant,,ENST00000425005,;HOXD-AS1,downstream_gene_variant,,ENST00000549329,;HOXD-AS1,downstream_gene_variant,,ENST00000546798,;HOXD-AS1,downstream_gene_variant,,ENST00000552156,;HOXD-AS1,downstream_gene_variant,,ENST00000447538,;HOXD-AS1,downstream_gene_variant,,ENST00000413969,;							MODERATE	805/1299	R269G	HXD3_HUMAN			Transcript		benign(0.012)	.	ENSP00000249440		CCDS2270.1			1	
TUBG2	0	LGGM	GRCh37	17	40818391	40818391	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	37	3	.	.	ENST00000251412.7:c.1047C>A	p.Ile349=	p.I349=	ENST00000251412	NM_016437.2	349	atC/atA	0	1	1	UPI0000136A5C	0		ENST00000251412		ENSG00000037042	12419		40			HGNC	p.I349I		TUBG2		SNV							ENST00000251412	protein_coding			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF79,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307,Prints_domain:PR01164		I		A		1246/1761							YES	TUBG2,synonymous_variant,p.=,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,;							LOW	1047/1356		TBG2_HUMAN			Transcript			.	ENSP00000251412		CCDS32658.1			1	
CH25H	0	LGGM	GRCh37	10	90966983	90966983	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	2	3	.	.	ENST00000371852.2:c.67C>T	p.Leu23Phe	p.L23F	ENST00000371852	NM_003956.3	23	Ctc/Ttc	0	1	1	UPI0000073DCF	0	NA	ENST00000371852		ENSG00000138135	1907		5	2.295		HGNC	p.L23F	COSM3868025	CH25H		SNV						1	ENST00000371852	protein_coding	getma.org/?cm=var&var=hg19,10,90966983,G,A&fts=all		hmmpanther:PTHR11863,hmmpanther:PTHR11863:SF5		L/F		A	medium	89/1378		getma.org/?cm=msa&ty=f&p=CH25H_HUMAN&rb=1&re=127&var=L23F	tolerated(0.21)				YES	CH25H,missense_variant,p.Leu23Phe,ENST00000371852,NM_003956.3;					1		MODERATE	67/819	L23F	CH25H_HUMAN			Transcript		benign(0.055)	.	ENSP00000360918		CCDS7400.1			1	
KRTAP4-9	0	LGGM	GRCh37	17	39261809	39261809	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	41	3	.	.	ENST00000391415.1:c.169T>C	p.Ser57Pro	p.S57P	ENST00000391415	NM_001146041.1	57	Tct/Cct	0	1	1	UPI000021D2D3	0	NA	ENST00000391415		ENSG00000212722	18910		44	1.085		HGNC	p.S57P	rs781169255,COSM979049	KRTAP4-9		SNV				0.000883		0,1	ENST00000391415	protein_coding	getma.org/?cm=var&var=hg19,17,39261809,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF1,hmmpanther:PTHR23262,Pfam_domain:PF01500		S/P		C	low	226/1157	1.52E-05	getma.org/?cm=msa&ty=f&p=KRA49_HUMAN&rb=1&re=140&var=S57P	tolerated(0.22)				YES	KRTAP4-9,missense_variant,p.Ser57Pro,ENST00000391415,NM_001146041.1;KRTAP4-16P,upstream_gene_variant,,ENST00000440582,;					0,1		MODERATE	169/633	S57P	KRA49_HUMAN			Transcript		unknown(0)	common_variant	ENSP00000375234	7.53E-05	CCDS54124.1			1	
RBM38	0	LGGM	GRCh37	20	55982675	55982675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	35	3	.	.	ENST00000356208.5:c.493C>A	p.Leu165Met	p.L165M	ENST00000356208	NM_017495.5	165	Ctg/Atg	0	1	1	UPI00001C1571	0	NA	ENST00000356208		ENSG00000132819	15818		38	0.345		HGNC	p.L165M		RBM38		SNV							ENST00000356208	protein_coding	getma.org/?cm=var&var=hg19,20,55982675,C,A&fts=all		hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF251,Low_complexity_(Seg):seg		L/M		A	neutral	668/2382		getma.org/?cm=msa&ty=f&p=RBM38_HUMAN&rb=105&re=239&var=L165M	tolerated(0.14)	H0UI71_HUMAN,A6NG75_HUMAN			YES	RBM38,missense_variant,p.Leu165Met,ENST00000356208,NM_017495.5;RBM38,missense_variant,p.Leu84Met,ENST00000371219,;RBM38,3_prime_UTR_variant,,ENST00000440234,NM_183425.2;RBM38,3_prime_UTR_variant,,ENST00000344785,;RBM38,3_prime_UTR_variant,,ENST00000342690,;							MODERATE	493/720	L165M	RBM38_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000348538		CCDS46617.1			1	
BCL9	0	LGGM	GRCh37	1	147091495	147091495	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	43	3	.	.	ENST00000234739.3:c.1534C>A	p.Arg512=	p.R512=	ENST00000234739	NM_004326.3	512	Cga/Aga	0	1	1	UPI000013C9B9	0		ENST00000234739		ENSG00000116128	1008		46			HGNC	p.R512R		BCL9		SNV							ENST00000234739	protein_coding			hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5,Low_complexity_(Seg):seg		R		A		2274/6278							YES	BCL9,synonymous_variant,p.=,ENST00000234739,NM_004326.3;BCL9,downstream_gene_variant,,ENST00000473292,;							LOW	1534/4281		BCL9_HUMAN			Transcript			.	ENSP00000234739		CCDS30833.1			1	
ALPK3	0	LGGM	GRCh37	15	85400709	85400709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	29	3	.	.	ENST00000258888.5:c.3346C>A	p.Leu1116Met	p.L1116M	ENST00000258888	NM_020778.4	1116	Ctg/Atg	0	1	1	UPI000013D013	0	NA	ENST00000258888		ENSG00000136383	17574		32	1.1		HGNC	p.L1116M		ALPK3		SNV							ENST00000258888	protein_coding	getma.org/?cm=var&var=hg19,15,85400709,C,A&fts=all		hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF21		L/M		A	low	3513/10917		getma.org/?cm=msa&ty=f&p=ALPK3_HUMAN&rb=761&re=1129&var=L1116M	deleterious_low_confidence(0.03)				YES	ALPK3,missense_variant,p.Leu1116Met,ENST00000258888,NM_020778.4;SNORA25,upstream_gene_variant,,ENST00000364121,;							MODERATE	3346/5724	L1116M	ALPK3_HUMAN			Transcript		benign(0.104)	.	ENSP00000258888		CCDS10333.1			1	
USP17L22	0	LGGM	GRCh37	4	9270254	9270254	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	42	4	.	.	ENST00000511280.1:c.910C>T	p.Gln304Ter	p.Q304*	ENST00000511280	NM_001256863.1	304	Cag/Tag	0	1	1	UPI0000185F06	0	NA	ENST00000511280		ENSG00000248933	44450		46	0		HGNC	p.Q304X		USP17L22		SNV							ENST00000511280	protein_coding	getma.org/?cm=var&var=hg19,4,9270254,C,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF382,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		Q/*		T	NA	910/1593		NA					YES	USP17L22,stop_gained,p.Gln304Ter,ENST00000511280,NM_001256863.1;USP17L21,downstream_gene_variant,,ENST00000506414,NM_001256862.1;USP17L23,upstream_gene_variant,,ENST00000506619,;							HIGH	910/1593	Q304*	U17LM_HUMAN			Transcript			.	ENSP00000423115		CCDS59463.1			1	
TRPT1	0	LGGM	GRCh37	11	63992330	63992330	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	11	4	.	.	ENST00000394546.2:c.270G>T	p.Gln90His	p.Q90H	ENST00000394546	NM_001160393.1	90	caG/caT	0	1		UPI0000246DFD	0	getma.org/pdb.php?prot=TRPT1_HUMAN&from=24&to=209&var=Q90H	ENST00000317459		ENSG00000149743	20316		15	1.7		HGNC	p.Q90H		TRPT1		SNV							ENST00000541278	protein_coding	getma.org/?cm=var&var=hg19,11,63992330,C,A&fts=all		Pfam_domain:PF01885,hmmpanther:PTHR12684,hmmpanther:PTHR12684:SF2,Superfamily_domains:SSF56399		Q/H		A	low	439/962		getma.org/?cm=msa&ty=f&p=TRPT1_HUMAN&rb=24&re=209&var=Q90H	tolerated(0.07)					TRPT1,missense_variant,p.Gln90His,ENST00000394546,NM_001160393.1,NM_001160389.1,NM_001160390.1,NM_001033678.3;TRPT1,missense_variant,p.Gln90His,ENST00000317459,;TRPT1,missense_variant,p.Gln90His,ENST00000541278,NM_001160392.1;TRPT1,missense_variant,p.Gln41His,ENST00000394547,NM_031472.3;TRPT1,missense_variant,p.Gln41His,ENST00000546089,;TRPT1,missense_variant,p.Gln90His,ENST00000545812,;FERMT3,downstream_gene_variant,,ENST00000279227,NM_178443.2;FERMT3,downstream_gene_variant,,ENST00000345728,NM_031471.5;NUDT22,upstream_gene_variant,,ENST00000279206,NM_032344.3,NM_001128612.2;NUDT22,upstream_gene_variant,,ENST00000441250,NM_001128613.2,NM_001271831.1;FERMT3,downstream_gene_variant,,ENST00000545896,;NUDT22,upstream_gene_variant,,ENST00000428347,;NUDT22,upstream_gene_variant,,ENST00000539325,;TRPT1,upstream_gene_variant,,ENST00000544286,;TRPT1,upstream_gene_variant,,ENST00000546133,;RP11-783K16.14,downstream_gene_variant,,ENST00000534988,;TRPT1,non_coding_transcript_exon_variant,,ENST00000540472,;TRPT1,non_coding_transcript_exon_variant,,ENST00000539595,;TRPT1,non_coding_transcript_exon_variant,,ENST00000536234,;TRPT1,non_coding_transcript_exon_variant,,ENST00000539436,;TRPT1,non_coding_transcript_exon_variant,,ENST00000542040,;TRPT1,intron_variant,,ENST00000537907,;NUDT22,upstream_gene_variant,,ENST00000422364,;NUDT22,upstream_gene_variant,,ENST00000535000,;NUDT22,upstream_gene_variant,,ENST00000537707,;FERMT3,downstream_gene_variant,,ENST00000541326,;NUDT22,upstream_gene_variant,,ENST00000543358,;NUDT22,upstream_gene_variant,,ENST00000534929,;FERMT3,downstream_gene_variant,,ENST00000540957,;NUDT22,upstream_gene_variant,,ENST00000545184,;FERMT3,downstream_gene_variant,,ENST00000546255,;TRPT1,upstream_gene_variant,,ENST00000536158,;TRPT1,upstream_gene_variant,,ENST00000541928,;NUDT22,upstream_gene_variant,,ENST00000543501,;NUDT22,upstream_gene_variant,,ENST00000537094,;FERMT3,downstream_gene_variant,,ENST00000540554,;							MODERATE	270/762	Q90H	TRPT1_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000314073		CCDS31595.1			1	
AANAT	0	LGGM	GRCh37	17	74465852	74465852	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	2	4	.	.	ENST00000250615.3:c.559C>T	p.Arg187Cys	p.R187C	ENST00000250615	NM_001166579.1	187	Cgc/Tgc	0	1		UPI0000135B1C	0	getma.org/pdb.php?prot=SNAT_HUMAN&from=84&to=174&var=R142C	ENST00000392492		ENSG00000129673	19		6	2.255		HGNC	p.R187C	rs770306765	AANAT		SNV			1				ENST00000250615	protein_coding	getma.org/?cm=var&var=hg19,17,74465852,C,T&fts=all		Superfamily_domains:SSF55729,Gene3D:3.40.630.30,Pfam_domain:PF00583,hmmpanther:PTHR10908:SF0,hmmpanther:PTHR10908,PROSITE_profiles:PS51186		R/C		T	medium	658/1005		getma.org/?cm=msa&ty=f&p=SNAT_HUMAN&rb=84&re=174&var=R142C	deleterious(0.02)	Q9H3T0_HUMAN,Q9GZS4_HUMAN,F1T0I5_HUMAN				AANAT,missense_variant,p.Arg187Cys,ENST00000250615,NM_001166579.1;AANAT,missense_variant,p.Arg142Cys,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,;	0.000341						MODERATE	424/624	R142C	SNAT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376282	8.38E-06	CCDS11745.1			1	
CACNA1I	0	LGGM	GRCh37	22	40045872	40045872	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	20	4	.	.	ENST00000402142.3:c.1934G>A	p.Gly645Asp	p.G645D	ENST00000402142	NM_021096.3	645	gGc/gAc	0	1	1	UPI000012727D	0	NA	ENST00000402142		ENSG00000100346	1396		24	2.205		HGNC	p.G610D		CACNA1I		SNV							ENST00000407673	protein_coding	getma.org/?cm=var&var=hg19,22,40045872,G,A&fts=all		hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		G/D		A	medium	1934/10004		getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=598&re=673&var=G645D	deleterious(0)				YES	CACNA1I,missense_variant,p.Gly651Asp,ENST00000336649,;CACNA1I,missense_variant,p.Gly645Asp,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Gly610Asp,ENST00000400164,;CACNA1I,missense_variant,p.Gly610Asp,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Gly645Asp,ENST00000401624,;CACNA1I,missense_variant,p.Gly610Asp,ENST00000407673,;							MODERATE	1934/6672	G645D	CAC1I_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000385019		CCDS46710.1			1	
MYO15B	0	LGGM	GRCh37	17	73598624	73598624	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	9	4	.	.	ENST00000583560.1:c.27G>T	p.Arg9=	p.R9=	ENST00000583560		9	cgG/cgT	0	1	1	UPI000268B34F	0		ENST00000583560		ENSG00000266714	14083		13			HGNC	p.R9R		MYO15B		SNV							ENST00000583560	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF6,Superfamily_domains:SSF52540		R		T		27/769				J3QLP5_HUMAN			YES	MYO15B,synonymous_variant,p.=,ENST00000583560,;MYO15B,downstream_gene_variant,,ENST00000584762,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578382,;MYO15B,non_coding_transcript_exon_variant,,ENST00000584516,;MYO15B,non_coding_transcript_exon_variant,,ENST00000584323,;MYO15B,upstream_gene_variant,,ENST00000582012,;MYO15B,upstream_gene_variant,,ENST00000580724,;							LOW	27/769		MY15B_HUMAN			Transcript			.	ENSP00000463645					1	
DEGS2	0	LGGM	GRCh37	14	100615855	100615855	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	1	5	.	.	ENST00000305631.5:c.275C>T	p.Ser92Leu	p.S92L	ENST00000305631	NM_206918.2	92	tCg/tTg	0	1	1	UPI000013EA78	0	NA	ENST00000305631		ENSG00000168350	20113		6	3.7		HGNC	p.S92L		DEGS2		SNV							ENST00000305631	protein_coding	getma.org/?cm=var&var=hg19,14,100615855,G,A&fts=all		hmmpanther:PTHR12879:SF1,hmmpanther:PTHR12879,Pfam_domain:PF00487,PIRSF_domain:PIRSF017228		S/L		A	high	851/1890		getma.org/?cm=msa&ty=f&p=DEGS2_HUMAN&rb=64&re=295&var=S92L	deleterious(0)				YES	DEGS2,missense_variant,p.Ser92Leu,ENST00000305631,NM_206918.2;DEGS2,intron_variant,,ENST00000553834,;DEGS2,non_coding_transcript_exon_variant,,ENST00000557117,;							MODERATE	275/972	S92L	DEGS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307126		CCDS9956.1			1	
ARHGAP35	0	LGGM	GRCh37	19	47502588	47502588	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	57	5	.	.	ENST00000404338.3:c.4064A>G	p.His1355Arg	p.H1355R	ENST00000404338	NM_004491.4	1355	cAt/cGt	0	1	1	UPI0000163F71	0	getma.org/pdb.php?prot=RHG35_HUMAN&from=1249&to=1436&var=H1355R	ENST00000404338		ENSG00000160007	4591		62	0.15		HGNC	p.H1355R		ARHGAP35		SNV							ENST00000404338	protein_coding	getma.org/?cm=var&var=hg19,19,47502588,A,G&fts=all		PROSITE_profiles:PS50238,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350		H/R		G	neutral	4064/8889		getma.org/?cm=msa&ty=f&p=RHG35_HUMAN&rb=1249&re=1436&var=H1355R	tolerated(0.35)				YES	ARHGAP35,missense_variant,p.His1355Arg,ENST00000404338,NM_004491.4;ARHGAP35,non_coding_transcript_exon_variant,,ENST00000598548,;ARHGAP35,downstream_gene_variant,,ENST00000596593,;ARHGAP35,non_coding_transcript_exon_variant,,ENST00000595822,;ARHGAP35,non_coding_transcript_exon_variant,,ENST00000599284,;							MODERATE	4064/4500	H1355R	RHG35_HUMAN			Transcript		benign(0.046)	.	ENSP00000385720		CCDS46127.1			1	
PCMTD1	0	LGGM	GRCh37	8	52733204	52733204	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	103	5	.	.	ENST00000360540.5:c.781G>T	p.Asp261Tyr	p.D261Y	ENST00000360540	NM_052937.3	261	Gat/Tat	0	1	1	UPI0000047CC0	0	NA	ENST00000360540		ENSG00000168300	30483		108	0.69		HGNC	p.D185Y		PCMTD1		SNV							ENST00000544451	protein_coding	getma.org/?cm=var&var=hg19,8,52733204,C,A&fts=all		hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4,Superfamily_domains:SSF53335		D/Y		A	neutral	1188/4252		getma.org/?cm=msa&ty=f&p=PCMD1_HUMAN&rb=225&re=357&var=D261Y	deleterious(0.05)				YES	PCMTD1,missense_variant,p.Asp261Tyr,ENST00000360540,NM_052937.3;PCMTD1,missense_variant,p.Asp185Tyr,ENST00000544451,NM_001286783.1,NM_001286782.1;PCMTD1,missense_variant,p.Asp261Tyr,ENST00000522514,;AC090186.1,downstream_gene_variant,,ENST00000415643,;PCMTD1,non_coding_transcript_exon_variant,,ENST00000519559,;							MODERATE	781/1074	D261Y	PCMD1_HUMAN			Transcript		benign(0.036)	.	ENSP00000353739		CCDS6148.1			1	
UROC1	0	LGGM	GRCh37	3	126224675	126224675	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	13	5	.	.	ENST00000383579.3:c.682A>T	p.Asn228Tyr	p.N228Y	ENST00000383579	NM_001165974.1	228	Aat/Tat	0	1		UPI000012CEC2	0	getma.org/pdb.php?prot=HUTU_HUMAN&from=84&to=662&var=N228Y	ENST00000290868		ENSG00000159650	26444		18	3.7		HGNC	p.N228Y		UROC1		SNV			1				ENST00000383579	protein_coding	getma.org/?cm=var&var=hg19,3,126224675,T,A&fts=all		HAMAP:MF_00577,hmmpanther:PTHR12216:SF3,hmmpanther:PTHR12216,Pfam_domain:PF01175,PIRSF_domain:PIRSF001423,Superfamily_domains:SSF111326		N/Y		A	high	736/3149		getma.org/?cm=msa&ty=f&p=HUTU_HUMAN&rb=84&re=662&var=N228Y	deleterious(0)					UROC1,missense_variant,p.Asn228Tyr,ENST00000290868,NM_144639.2;UROC1,missense_variant,p.Asn228Tyr,ENST00000383579,NM_001165974.1;							MODERATE	682/2031	N228Y	HUTU_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000290868		CCDS3038.1			1	
OR5H2	0	LGGM	GRCh37	3	98002566	98002566	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	38	5	.	.	ENST00000355273.2:c.835G>A	p.Asp279Asn	p.D279N	ENST00000355273	NM_001005482.1	279	Gac/Aac	0	1	1	UPI0000041B67	0	NA	ENST00000355273		ENSG00000197938	14752		43	0.69		HGNC	p.D279N		OR5H2		SNV							ENST00000355273	protein_coding	getma.org/?cm=var&var=hg19,3,98002566,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF277,Superfamily_domains:SSF81321		D/N		A	neutral	835/945		getma.org/?cm=msa&ty=f&p=OR5H2_HUMAN&rb=144&re=288&var=D279N	tolerated(0.3)				YES	OR5H2,missense_variant,p.Asp279Asn,ENST00000355273,NM_001005482.1;RP11-325B23.2,intron_variant,,ENST00000508616,;							MODERATE	835/945	D279N	OR5H2_HUMAN			Transcript		benign(0.014)	.	ENSP00000347418		CCDS33801.1			1	
CEP250	0	LGGM	GRCh37	20	34099190	34099190	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	38	7	.	.	ENST00000397527.1:c.7066-2A>G		p.X2356_splice	ENST00000397527	NM_007186.3			0	1	1	UPI000006FE8F	0		ENST00000397527		ENSG00000126001	1859		45			HGNC	-		CEP250		SNV							ENST00000397527	protein_coding							G		-/8398				Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN			YES	CEP250,splice_acceptor_variant,,ENST00000397527,NM_007186.3;CEP250,splice_acceptor_variant,,ENST00000342580,;CEP250,splice_acceptor_variant,,ENST00000422671,;							HIGH	7066/7329		CP250_HUMAN			Transcript			.	ENSP00000380661		CCDS13255.1			1	
LRRC52	0	LGGM	GRCh37	1	165513633	165513633	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	83	7	.	.	ENST00000294818.1:c.100G>A	p.Ala34Thr	p.A34T	ENST00000294818	NM_001005214.3	34	Gcc/Acc	0	1	1	UPI000013E1BE	0	NA	ENST00000294818		ENSG00000162763	32156		90	1.205		HGNC	p.A34T		LRRC52		SNV							ENST00000294818	protein_coding	getma.org/?cm=var&var=hg19,1,165513633,G,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF01462,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF37,SMART_domains:SM00013,Superfamily_domains:SSF52058		A/T		A	low	390/1369		getma.org/?cm=msa&ty=f&p=LRC52_HUMAN&rb=5&re=72&var=A34T	tolerated(0.55)				YES	LRRC52,missense_variant,p.Ala34Thr,ENST00000294818,NM_001005214.3;RP11-280O1.2,intron_variant,,ENST00000438275,;RP11-280O1.2,intron_variant,,ENST00000421273,;RP11-280O1.2,intron_variant,,ENST00000416424,;RP11-280O1.2,upstream_gene_variant,,ENST00000452283,;							MODERATE	100/942	A34T	LRC52_HUMAN			Transcript		benign(0.008)	.	ENSP00000294818		CCDS30930.1			1	
VWA2	0	LGGM	GRCh37	10	116032604	116032604	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	16	7	.	.	ENST00000603594.1:c.477T>G	p.Asp159Glu	p.D159E	ENST00000603594		159	gaT/gaG	0	1		UPI00004C7AA3	0	getma.org/pdb.php?prot=VWA2_HUMAN&from=51&to=222&var=D159E	ENST00000392982		ENSG00000165816	24709		23	3.705		HGNC	p.D159E		VWA2		SNV							ENST00000298715	protein_coding	getma.org/?cm=var&var=hg19,10,116032604,T,G&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF9,hmmpanther:PTHR22992,Gene3D:3.40.50.410,Pfam_domain:PF00092,SMART_domains:SM00327,Superfamily_domains:SSF53300,Prints_domain:PR00453		D/E		G	high	727/2794		getma.org/?cm=msa&ty=f&p=VWA2_HUMAN&rb=51&re=222&var=D159E	deleterious(0)					VWA2,missense_variant,p.Asp159Glu,ENST00000603594,;VWA2,missense_variant,p.Asp159Glu,ENST00000392982,NM_001272046.1;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,;							MODERATE	477/2268	D159E	VWA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376708		CCDS7589.2			1	
RBP4	0	LGGM	GRCh37	10	95353730	95353730	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	17	8	.	.	ENST00000371467.1:c.418C>G	p.Leu140Val	p.L140V	ENST00000371467		140	Ctc/Gtc	0	1		UPI0000044958	0	getma.org/pdb.php?prot=RET4_HUMAN&from=39&to=188&var=L140V	ENST00000371464		ENSG00000138207	9922		25	0.895		HGNC	p.L138V		RBP4		SNV			1				ENST00000371469	protein_coding	getma.org/?cm=var&var=hg19,10,95353730,G,C&fts=all		hmmpanther:PTHR11873,hmmpanther:PTHR11873:SF2,Gene3D:2.40.128.20,Pfam_domain:PF00061,PIRSF_domain:PIRSF036893,PIRSF_domain:PIRSF500204,Superfamily_domains:SSF50814		L/V		C	low	492/1068		getma.org/?cm=msa&ty=f&p=RET4_HUMAN&rb=39&re=188&var=L140V	tolerated(0.28)					RBP4,missense_variant,p.Leu140Val,ENST00000371467,;RBP4,missense_variant,p.Leu140Val,ENST00000371464,NM_006744.3;RBP4,missense_variant,p.Leu138Val,ENST00000371469,;FFAR4,intron_variant,,ENST00000604414,;FFAR4,downstream_gene_variant,,ENST00000371483,NM_181745.3;FFAR4,downstream_gene_variant,,ENST00000371481,NM_001195755.1;							MODERATE	418/606	L140V	RET4_HUMAN			Transcript		benign(0.02)	.	ENSP00000360519		CCDS31249.1			1	
AMPD1	0	LGGM	GRCh37	1	115231293	115231293	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	94	9	.	.	ENST00000520113.2:c.203G>A	p.Arg68His	p.R68H	ENST00000520113		68	cGt/cAt	0	1	1	UPI0000470A27	0	NA	ENST00000520113		ENSG00000116748	468	8.64E-05	103	1.15		HGNC	p.R35H	rs147972392	AMPD1		SNV	A:0		1	9.61E-05			ENST00000353928	protein_coding	getma.org/?cm=var&var=hg19,1,115231293,C,T&fts=all		PIRSF_domain:PIRSF001251,hmmpanther:PTHR11359,hmmpanther:PTHR11359:SF1		R/H	A:0.0001	T	low	219/2375	4.50E-05	getma.org/?cm=msa&ty=f&p=AMPD1_HUMAN&rb=2&re=101&var=R68H	tolerated(0.08)	Q6F4B9_HUMAN,Q6F4B8_HUMAN,Q6F4B7_HUMAN,Q6F4B6_HUMAN,Q6F4B5_HUMAN			YES	AMPD1,missense_variant,p.Arg64His,ENST00000369538,NM_001172626.1;AMPD1,missense_variant,p.Arg35His,ENST00000353928,NM_000036.2;AMPD1,missense_variant,p.Arg68His,ENST00000520113,;AMPD1,upstream_gene_variant,,ENST00000485564,;							MODERATE	203/2343	R68H	AMPD1_HUMAN			Transcript		benign(0.035)	.	ENSP00000430075	4.12E-05	CCDS876.2			1	
KIF25	0	LGGM	GRCh37	6	168439299	168439299	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	34	9	.	.	ENST00000443060.2:c.384T>C	p.Asn128=	p.N128=	ENST00000443060		128	aaT/aaC	0	1		UPI000012DDAB	0		ENST00000354419		ENSG00000125337	6390		43			HGNC	p.N128N		KIF25		SNV							ENST00000351261	protein_coding			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF327,SMART_domains:SM00129,Superfamily_domains:SSF52540		N		C		646/1510								KIF25,synonymous_variant,p.=,ENST00000443060,;KIF25,synonymous_variant,p.=,ENST00000354419,NM_030615.2;KIF25,synonymous_variant,p.=,ENST00000351261,NM_005355.3;KIF25,downstream_gene_variant,,ENST00000496008,;KIF25,downstream_gene_variant,,ENST00000504593,;							LOW	384/1155		KIF25_HUMAN			Transcript			.	ENSP00000346401		CCDS5305.1			1	
DAGLA	0	LGGM	GRCh37	11	61498802	61498802	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	34	10	.	.	ENST00000257215.5:c.863G>A	p.Arg288His	p.R288H	ENST00000257215	NM_006133.2	288	cGc/cAc	0	1	1	UPI00001678B3	0	NA	ENST00000257215		ENSG00000134780	1165		44	0.345		HGNC	p.R288H	rs764803603	DAGLA		SNV			1				ENST00000257215	protein_coding	getma.org/?cm=var&var=hg19,11,61498802,G,A&fts=all		Gene3D:3.40.50.1820,hmmpanther:PTHR21493,hmmpanther:PTHR21493:SF87		R/H		A	neutral	979/5757	1.50E-05	getma.org/?cm=msa&ty=f&p=DGLA_HUMAN&rb=280&re=393&var=R288H	tolerated(0.32)				YES	DAGLA,missense_variant,p.Arg288His,ENST00000257215,NM_006133.2;DAGLA,3_prime_UTR_variant,,ENST00000540717,;	0.000347						MODERATE	863/3129	R288H	DGLA_HUMAN			Transcript		possibly_damaging(0.65)	.	ENSP00000257215	3.29E-05	CCDS31578.1			1	
HCAR1	0	LGGM	GRCh37	12	123214537	123214537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	17	10	.	.	ENST00000432564.1:c.350T>A	p.Val117Glu	p.V117E	ENST00000432564	NM_032554.3	117	gTg/gAg	0	1	1	UPI000003BC7A	0	getma.org/pdb.php?prot=HCAR1_HUMAN&from=1&to=200&var=V117E	ENST00000432564		ENSG00000196917	4532		27	3.595		HGNC	p.V117E		HCAR1		SNV							ENST00000432564	protein_coding	getma.org/?cm=var&var=hg19,12,123214537,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF29,hmmpanther:PTHR24231,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		V/E		T	high	593/3612		getma.org/?cm=msa&ty=f&p=HCAR1_HUMAN&rb=1&re=200&var=V117E	deleterious(0)				YES	HCAR1,missense_variant,p.Val117Glu,ENST00000432564,NM_032554.3;HCAR1,missense_variant,p.Val117Glu,ENST00000356987,;HCAR1,missense_variant,p.Val117Glu,ENST00000436083,;RP11-324E6.9,upstream_gene_variant,,ENST00000602891,;							MODERATE	350/1041	V117E	HCAR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000389255		CCDS9236.1			1	
CXXC11	0	LGGM	GRCh37	2	242815270	242815270	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	15	10	.	.	ENST00000343216.3:c.1563C>A	p.Cys521Ter	p.C521*	ENST00000343216	NM_173821.2	521	tgC/tgA	0	1	1	UPI000014050F	0	NA	ENST00000343216		ENSG00000188011	26585		25	0		HGNC	p.C521X		CXXC11		SNV							ENST00000343216	protein_coding	getma.org/?cm=var&var=hg19,2,242815270,C,A&fts=all				C/*		A	NA	1591/2296		NA					YES	CXXC11,stop_gained,p.Cys521Ter,ENST00000343216,NM_173821.2;CXXC11,3_prime_UTR_variant,,ENST00000419912,;							HIGH	1563/1719	C521*	CB085_HUMAN			Transcript			.	ENSP00000345374		CCDS42843.1			1	
LENG8	0	LGGM	GRCh37	19	54967251	54967251	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	38	10	.	.	ENST00000326764.5:c.1131T>G	p.Gly377=	p.G377=	ENST00000326764	NM_052925.2	377	ggT/ggG	0	1	1	UPI0000074196	0		ENST00000326764		ENSG00000167615	15500		48			HGNC	p.G377G	rs760944983,COSM302544	LENG8		SNV						0,1	ENST00000431846	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12436:SF4,hmmpanther:PTHR12436		G		G		1610/3991				E7EWC7_HUMAN,C9J1N5_HUMAN,B0VJY8_HUMAN			YES	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,;					0,1		LOW	1131/2403		LENG8_HUMAN			Transcript			.	ENSP00000318374		CCDS12894.1			1	
LRP1B	0	LGGM	GRCh37	2	141625762	141625762	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	55	10	.	.	ENST00000389484.3:c.4240A>G	p.Arg1414Gly	p.R1414G	ENST00000389484	NM_018557.2	1414	Aga/Gga	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=1390&to=1434&var=R1414G	ENST00000389484		ENSG00000168702	6693		65	3.345		HGNC	p.R1414G		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141625762,T,C&fts=all		Gene3D:2.120.10.30,Pfam_domain:PF00058,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		R/G		C	medium	5212/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=1390&re=1434&var=R1414G		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			YES	LRP1B,missense_variant,p.Arg1414Gly,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Arg559Gly,ENST00000434794,;							MODERATE	4240/13800	R1414G	LRP1B_HUMAN			Transcript		benign(0.415)	.	ENSP00000374135		CCDS2182.1			1	
SLIT2	0	LGGM	GRCh37	4	20521055	20521055	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	17	11	.	.	ENST00000504154.1:c.1109G>T	p.Gly370Val	p.G370V	ENST00000504154	NM_004787.1	370	gGa/gTa	0	1	1	UPI00000747E4	0	getma.org/pdb.php?prot=SLIT2_HUMAN&from=324&to=384&var=G370V	ENST00000504154		ENSG00000145147	11086		28	1.685		HGNC	p.G370V		SLIT2		SNV							ENST00000504154	protein_coding	getma.org/?cm=var&var=hg19,4,20521055,G,T&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		G/V		T	low	1361/6390		getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=324&re=384&var=G370V	deleterious(0)	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,missense_variant,p.Gly370Val,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.Gly370Val,ENST00000503823,;SLIT2,missense_variant,p.Gly374Val,ENST00000273739,;SLIT2,missense_variant,p.Gly374Val,ENST00000503837,;							MODERATE	1109/4590	G370V	SLIT2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000422591		CCDS3426.1			1	
ZNF606	0	LGGM	GRCh37	19	58490552	58490552	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	81	11	.	.	ENST00000341164.4:c.1496T>A	p.Leu499His	p.L499H	ENST00000341164	NM_025027.3	499	cTt/cAt	0	1	1	UPI000013C35B	0	getma.org/pdb.php?prot=ZN606_HUMAN&from=498&to=523&var=L499H	ENST00000341164		ENSG00000166704	25879		92	2.795		HGNC	p.L499H		ZNF606		SNV							ENST00000551380	protein_coding	getma.org/?cm=var&var=hg19,19,58490552,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF278,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/H		T	medium	2117/4248		getma.org/?cm=msa&ty=f&p=ZN606_HUMAN&rb=478&re=543&var=L499H	deleterious(0)	Q9H7U2_HUMAN,F8W1C8_HUMAN,F5H208_HUMAN			YES	ZNF606,missense_variant,p.Leu499His,ENST00000341164,NM_025027.3;ZNF606,missense_variant,p.Leu409His,ENST00000536132,;ZNF606,missense_variant,p.Leu499His,ENST00000551380,;C19orf18,upstream_gene_variant,,ENST00000314391,NM_152474.4;ZNF606,3_prime_UTR_variant,,ENST00000550599,;							MODERATE	1496/2379	L499H	ZN606_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343617		CCDS12968.1			1	
ZSCAN10	0	LGGM	GRCh37	16	3142310	3142310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	5	12	.	.	ENST00000252463.2:c.239G>T	p.Ser80Ile	p.S80I	ENST00000252463	NM_032805.1	80	aGt/aTt	0	1	1	UPI000006F1B0	0	NA	ENST00000252463		ENSG00000130182	12997		17	0.345		HGNC	p.S80I		ZSCAN10		SNV							ENST00000576985	protein_coding	getma.org/?cm=var&var=hg19,16,3142310,C,A&fts=all		SMART_domains:SM00431		S/I		A	neutral	327/2467		getma.org/?cm=msa&ty=f&p=ZSC10_HUMAN&rb=78&re=188&var=S80I	deleterious(0.01)	I3L1J3_HUMAN,I3L0Q3_HUMAN			YES	ZSCAN10,missense_variant,p.Ser80Ile,ENST00000252463,NM_032805.1;ZSCAN10,missense_variant,p.Ser80Ile,ENST00000576985,;ZSCAN10,missense_variant,p.Ser80Ile,ENST00000576483,;ZSCAN10,5_prime_UTR_variant,,ENST00000575108,NM_001282415.1;ZSCAN10,intron_variant,,ENST00000538082,NM_001282416.1;ZSCAN10,intron_variant,,ENST00000572548,;ZSCAN10,intron_variant,,ENST00000572431,;ZSCAN10,downstream_gene_variant,,ENST00000573931,;ZSCAN10,non_coding_transcript_exon_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;							MODERATE	239/2178	S80I	ZSC10_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000252463		CCDS10493.1			1	
ZNF768	0	LGGM	GRCh37	16	30536535	30536535	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	4	12	.	.	ENST00000380412.5:c.926G>T	p.Arg309Leu	p.R309L	ENST00000380412	NM_024671.3	309	cGc/cTc	0	1	1	UPI00001FFEED	0	getma.org/pdb.php?prot=ZN768_HUMAN&from=303&to=328&var=R309L	ENST00000380412		ENSG00000169957	26273		16	0.615		HGNC	p.R278L		ZNF768		SNV							ENST00000562803	protein_coding	getma.org/?cm=var&var=hg19,16,30536535,C,A&fts=all		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,Superfamily_domains:SSF57667		R/L		A	neutral	1102/2312		getma.org/?cm=msa&ty=f&p=ZN768_HUMAN&rb=283&re=348&var=R309L	deleterious_low_confidence(0)	H3BS42_HUMAN			YES	ZNF768,missense_variant,p.Arg309Leu,ENST00000380412,NM_024671.3;ZNF768,missense_variant,p.Arg278Leu,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,;							MODERATE	926/1623	R309L	ZN768_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000369777		CCDS10681.2			1	
NUP88	0	LGGM	GRCh37	17	5312054	5312054	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	9	12	.	.	ENST00000573584.1:c.856A>T	p.Ser286Cys	p.S286C	ENST00000573584	NM_002532.4	286	Agc/Tgc	0	1	1	UPI0000130894	0	NA	ENST00000573584		ENSG00000108559	8067		21	1.25		HGNC	p.S286C		NUP88		SNV							ENST00000573584	protein_coding	getma.org/?cm=var&var=hg19,17,5312054,T,A&fts=all		Pfam_domain:PF10168,hmmpanther:PTHR13257,hmmpanther:PTHR13257:SF0		S/C		A	low	1366/2916		getma.org/?cm=msa&ty=f&p=NUP88_HUMAN&rb=11&re=741&var=S286C	deleterious(0.01)	I3L245_HUMAN			YES	NUP88,missense_variant,p.Ser286Cys,ENST00000573584,NM_002532.4;NUP88,missense_variant,p.Ser225Cys,ENST00000225696,;NUP88,downstream_gene_variant,,ENST00000572809,;NUP88,splice_region_variant,,ENST00000574867,;							MODERATE	856/2226	S286C	NUP88_HUMAN			Transcript		benign(0.061)	.	ENSP00000458954		CCDS11070.1			1	
MYO3A	0	LGGM	GRCh37	10	26457712	26457712	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	29	12	.	.	ENST00000265944.5:c.3183G>T	p.Leu1061Phe	p.L1061F	ENST00000265944	NM_017433.4	1061	ttG/ttT	0	1	1	UPI000014140A	0	NA	ENST00000265944		ENSG00000095777	7601		41	1.935		HGNC	p.L1061F		MYO3A		SNV			1				ENST00000265944	protein_coding	getma.org/?cm=var&var=hg19,10,26457712,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00015,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS50096		L/F		T	medium	3349/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=1055&re=1084&var=L1061F	deleterious(0.04)				YES	MYO3A,missense_variant,p.Leu1061Phe,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;MYO3A,non_coding_transcript_exon_variant,,ENST00000477691,;							MODERATE	3183/4851	L1061F	MYO3A_HUMAN			Transcript		benign(0.014)	.	ENSP00000265944		CCDS7148.1			1	
TP53	0	LGGM	GRCh37	17	7577534	7577534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	3	12	.	.	ENST00000269305.4:c.747G>T	p.Arg249Ser	p.R249S	ENST00000269305	NM_001126112.2	249	agG/agT	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R249S	ENST00000269305	pathogenic	ENSG00000141510	11998		15	3.3		HGNC	p.R249S	rs28934571,TP53_g.13384G>T,COSM10817,COSM131478,COSM131479,COSM3717634,COSM1646861	TP53		SNV			1			1,0,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7577534,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/S		A	medium	937/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R249S	deleterious(0)	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			YES	TP53,missense_variant,p.Arg249Ser,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg249Ser,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg249Ser,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg249Ser,ENST00000445888,;TP53,missense_variant,p.Arg249Ser,ENST00000359597,;TP53,missense_variant,p.Arg249Ser,ENST00000413465,;TP53,missense_variant,p.Arg117Ser,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,;					0,0,1,1,1,1,1		MODERATE	747/1182	R249S	P53_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000269305		CCDS11118.1			1	251,056,602,126,420,000,000,000
DMWD	0	LGGM	GRCh37	19	46289034	46289034	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	50	13	.	.	ENST00000270223.6:c.1720G>T	p.Asp574Tyr	p.D574Y	ENST00000270223	NM_004943.1	574	Gac/Tac	0	1	1	UPI000040C0B4	0	NA	ENST00000270223		ENSG00000185800	2936		63	2.08		HGNC	p.D574Y		DMWD		SNV							ENST00000270223	protein_coding	getma.org/?cm=var&var=hg19,19,46289034,C,A&fts=all		hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF15		D/Y		A	medium	1766/3305		getma.org/?cm=msa&ty=f&p=DMWD_HUMAN&rb=445&re=644&var=D574Y	deleterious(0)				YES	DMWD,missense_variant,p.Asp574Tyr,ENST00000270223,NM_004943.1;DMWD,missense_variant,p.Asp574Tyr,ENST00000377735,;DMWD,missense_variant,p.Asp46Tyr,ENST00000602829,;DMPK,upstream_gene_variant,,ENST00000291270,NM_004409.3;DMPK,upstream_gene_variant,,ENST00000447742,NM_001081562.1,NM_001081560.1;DMPK,upstream_gene_variant,,ENST00000458663,;DMPK,upstream_gene_variant,,ENST00000354227,NM_001288766.1;DMWD,upstream_gene_variant,,ENST00000537879,;DMWD,downstream_gene_variant,,ENST00000598237,;AC011530.4,upstream_gene_variant,,ENST00000596586,;DMWD,downstream_gene_variant,,ENST00000597053,;AC011530.4,upstream_gene_variant,,ENST00000595946,;DMWD,downstream_gene_variant,,ENST00000601370,;AC011530.4,missense_variant,p.Asp67Tyr,ENST00000593999,;DMPK,upstream_gene_variant,,ENST00000588522,NM_001288765.1,NM_001288764.1;DMWD,downstream_gene_variant,,ENST00000602469,;AC011530.4,upstream_gene_variant,,ENST00000597712,;							MODERATE	1720/2025	D574Y	DMWD_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000270223		CCDS33054.1			1	
THOC5	0	LGGM	GRCh37	22	29908009	29908009	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	43	14	.	.	ENST00000490103.1:c.1797+1G>A		p.X599_splice	ENST00000490103	NM_003678.4			0	1		UPI000013FD77	0		ENST00000397871		ENSG00000100296	19074		57			HGNC	-		THOC5		SNV							ENST00000490103	protein_coding							T		-/2560				C9JXU6_HUMAN,C9JXG5_HUMAN,C9JCL9_HUMAN				THOC5,splice_donor_variant,,ENST00000490103,NM_003678.4;THOC5,splice_donor_variant,,ENST00000397872,NM_001002878.1;THOC5,splice_donor_variant,,ENST00000397871,NM_001002879.1;THOC5,splice_donor_variant,,ENST00000397873,NM_001002877.1;CTA-256D12.11,downstream_gene_variant,,ENST00000411969,;THOC5,splice_donor_variant,,ENST00000442555,;THOC5,splice_donor_variant,,ENST00000358079,;THOC5,upstream_gene_variant,,ENST00000472164,;							HIGH	1797/2052		THOC5_HUMAN			Transcript			.	ENSP00000380969		CCDS13859.1			1	
DLX4	0	LGGM	GRCh37	17	48050414	48050414	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	13	15	.	.	ENST00000240306.3:c.284-23C>A		*95*	ENST00000240306	NM_138281.2			0	1	1	UPI0000070F94	0		ENST00000240306		ENSG00000108813	2917		28			HGNC	p.Y15X		DLX4		SNV							ENST00000411890	protein_coding							A		-/2032							YES	DLX4,stop_gained,p.Tyr15Ter,ENST00000411890,NM_001934.3;DLX4,intron_variant,,ENST00000240306,NM_138281.2;DLX4,downstream_gene_variant,,ENST00000505318,;DLX4,intron_variant,,ENST00000503410,;DLX4,intron_variant,,ENST00000503276,;							MODIFIER	-/723		DLX4_HUMAN			Transcript			.	ENSP00000240306		CCDS11555.1			1	
DNMBP	0	LGGM	GRCh37	10	101657980	101657980	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	18	16	.	.	ENST00000324109.4:c.2783G>A	p.Arg928His	p.R928H	ENST00000324109	NM_015221.2	928	cGt/cAt	0	1	1	UPI000013D6C9	0	getma.org/pdb.php?prot=DNMBP_HUMAN&from=788&to=966&var=R928H	ENST00000324109		ENSG00000107554	30373	8.64E-05	34	2.725		HGNC	p.R928H	rs749146123	DNMBP	0.000121	SNV							ENST00000342239	protein_coding	getma.org/?cm=var&var=hg19,10,101657980,C,T&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_patterns:PS00741,PROSITE_profiles:PS50010,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19,SMART_domains:SM00325,Superfamily_domains:SSF48065		R/H		T	medium	2875/6400		getma.org/?cm=msa&ty=f&p=DNMBP_HUMAN&rb=788&re=966&var=R928H	deleterious(0)	B4E0Q3_HUMAN			YES	DNMBP,missense_variant,p.Arg928His,ENST00000342239,;DNMBP,missense_variant,p.Arg928His,ENST00000324109,NM_015221.2;DNMBP,missense_variant,p.Arg174His,ENST00000543621,;DNMBP,missense_variant,p.Arg216His,ENST00000422692,;DNMBP,5_prime_UTR_variant,,ENST00000540316,;							MODERATE	2783/4734	R928H	DNMBP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315659	2.47E-05	CCDS7485.1			1	
EP300	0	LGGM	GRCh37	22	41548226	41548226	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	32	16	.	.	ENST00000263253.7:c.3014G>A	p.Cys1005Tyr	p.C1005Y	ENST00000263253	NM_001429.3	1005	tGt/tAt	0	1	1	UPI00001AE876	0	NA	ENST00000263253		ENSG00000100393	3373		48	0		HGNC	p.C1005Y		EP300		SNV			1				ENST00000263253	protein_coding	getma.org/?cm=var&var=hg19,22,41548226,G,A&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF4		C/Y		A	neutral	4233/9585		getma.org/?cm=msa&ty=f&p=EP300_HUMAN&rb=990&re=1026&var=C1005Y		B5A250_HUMAN			YES	EP300,missense_variant,p.Cys1005Tyr,ENST00000263253,NM_001429.3;							MODERATE	3014/7245	C1005Y	EP300_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000263253		CCDS14010.1			1	
ASIC2	0	LGGM	GRCh37	17	31355328	31355328	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	16	17	.	.	ENST00000225823.2:c.1070C>G	p.Ala357Gly	p.A357G	ENST00000225823	NM_183377.1	357	gCc/gGc	0	1		UPI00000441F0	0	getma.org/pdb.php?prot=ASIC2_HUMAN&from=201&to=400&var=A306G	ENST00000359872		ENSG00000108684	99		33	1.655		HGNC	p.A306G		ASIC2		SNV							ENST00000359872	protein_coding	getma.org/?cm=var&var=hg19,17,31355328,G,C&fts=all		hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF128,PROSITE_patterns:PS01206,Gene3D:2qtsA02,Pfam_domain:PF00858,TIGRFAM_domain:TIGR00859		A/G		C	low	1679/3179		getma.org/?cm=msa&ty=f&p=ASIC2_HUMAN&rb=201&re=400&var=A306G	tolerated(0.23)					ASIC2,missense_variant,p.Ala357Gly,ENST00000225823,NM_183377.1;ASIC2,missense_variant,p.Ala306Gly,ENST00000359872,NM_001094.4;ASIC2,non_coding_transcript_exon_variant,,ENST00000448983,;							MODERATE	917/1539	A306G	ASIC2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000352934		CCDS42296.1			1	
CDAN1	0	LGGM	GRCh37	15	43023984	43023984	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	4	17	.	.	ENST00000356231.3:c.1573G>C	p.Gly525Arg	p.G525R	ENST00000356231	NM_138477.2	525	Ggc/Cgc	0	1	1	UPI0000229BCB	0	NA	ENST00000356231		ENSG00000140326	1713		21	1.67		HGNC	p.G525R		CDAN1		SNV			1				ENST00000356231	protein_coding	getma.org/?cm=var&var=hg19,15,43023984,C,G&fts=all				G/R		G	low	1597/4637		getma.org/?cm=msa&ty=f&p=CDAN1_HUMAN&rb=259&re=1225&var=G525R	deleterious(0)	H3BM60_HUMAN			YES	CDAN1,missense_variant,p.Gly525Arg,ENST00000356231,NM_138477.2;CDAN1,downstream_gene_variant,,ENST00000563260,;CDAN1,upstream_gene_variant,,ENST00000562465,;							MODERATE	1573/3684	G525R	CDAN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000348564		CCDS32209.1			1	
ZNF548	0	LGGM	GRCh37	19	57905567	57905567	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	119	20	.	.	ENST00000336128.7:c.27G>A	p.Ala9=	p.A9=	ENST00000336128	NM_001172773.1	9	gcG/gcA	0	1		UPI0000202D1F	0		ENST00000366197		ENSG00000188785	26561		139			HGNC	p.D51N	rs763643625	ZNF548	7.52E-05	SNV							ENST00000597047	protein_coding							A		-/3381								ZNF548,synonymous_variant,p.=,ENST00000336128,NM_001172773.1;AC003002.6,synonymous_variant,p.=,ENST00000596400,;ZNF548,synonymous_variant,p.=,ENST00000597400,;ZNF548,synonymous_variant,p.=,ENST00000598895,;ZNF548,synonymous_variant,p.=,ENST00000594668,;AC003002.6,synonymous_variant,p.=,ENST00000596617,;AC004076.7,synonymous_variant,p.=,ENST00000597410,;ZNF548,5_prime_UTR_variant,,ENST00000600927,;ZNF548,5_prime_UTR_variant,,ENST00000596282,;ZNF548,5_prime_UTR_variant,,ENST00000594693,;ZNF548,intron_variant,,ENST00000366197,NM_152909.3;AC003002.4,intron_variant,,ENST00000597658,;AC003002.6,non_coding_transcript_exon_variant,,ENST00000600421,;ZNF548,missense_variant,p.Asp51Asn,ENST00000597047,;ZNF548,3_prime_UTR_variant,,ENST00000602086,;ZNF548,3_prime_UTR_variant,,ENST00000600442,;ZNF548,upstream_gene_variant,,ENST00000597576,;							MODIFIER	-/1602		ZN548_HUMAN			Transcript			.	ENSP00000379482	8.25E-06	CCDS46209.1			1	
MMP8	0	LGGM	GRCh37	11	102592392	102592392	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	11	21	.	.	ENST00000236826.3:c.449G>A	p.Arg150Lys	p.R150K	ENST00000236826	NM_002424.2	150	aGg/aAg	0	1	1	UPI00000422BB	0	getma.org/pdb.php?prot=MMP8_HUMAN&from=107&to=262&var=R150K	ENST00000236826		ENSG00000118113	7175		32	0.15		HGNC	p.R150K		MMP8		SNV							ENST00000236826	protein_coding	getma.org/?cm=var&var=hg19,11,102592392,C,T&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF137,SMART_domains:SM00235,Superfamily_domains:SSF55486		R/K		T	neutral	548/3056		getma.org/?cm=msa&ty=f&p=MMP8_HUMAN&rb=107&re=262&var=R150K	tolerated(0.66)				YES	MMP8,missense_variant,p.Arg150Lys,ENST00000236826,NM_002424.2;MMP8,missense_variant,p.Arg126Lys,ENST00000438475,;MMP8,3_prime_UTR_variant,,ENST00000528662,;MMP8,3_prime_UTR_variant,,ENST00000533258,;MMP8,downstream_gene_variant,,ENST00000532799,;MMP8,downstream_gene_variant,,ENST00000531168,;							MODERATE	449/1404	R150K	MMP8_HUMAN			Transcript		benign(0.004)	.	ENSP00000236826		CCDS8320.1			1	
CNTNAP1	0	LGGM	GRCh37	17	40839820	40839820	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	29	23	.	.	ENST00000264638.4:c.1127G>C	p.Gly376Ala	p.G376A	ENST00000264638	NM_003632.2	376	gGt/gCt	0	1	1	UPI00001285F6	0	NA	ENST00000264638		ENSG00000108797	8011		52	1.645		HGNC	p.G376A		CNTNAP1		SNV			1				ENST00000264638	protein_coding	getma.org/?cm=var&var=hg19,17,40839820,G,C&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF584,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Superfamily_domains:SSF49899		G/A		C	low	1344/5276		getma.org/?cm=msa&ty=f&p=CNTP1_HUMAN&rb=333&re=388&var=G376A	deleterious(0.03)				YES	CNTNAP1,missense_variant,p.Gly376Ala,ENST00000264638,NM_003632.2;CCR10,upstream_gene_variant,,ENST00000591765,;CCR10,upstream_gene_variant,,ENST00000591568,;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,missense_variant,p.Gly376Ala,ENST00000591662,;CNTNAP1,non_coding_transcript_exon_variant,,ENST00000586801,;CNTNAP1,upstream_gene_variant,,ENST00000585534,;							MODERATE	1127/4155	G376A	CNTP1_HUMAN			Transcript		benign(0.346)	.	ENSP00000264638		CCDS11436.1			1	
ATP8B4	0	LGGM	GRCh37	15	50279724	50279724	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	5	24	.	.	ENST00000284509.6:c.612T>C	p.Pro204=	p.P204=	ENST00000284509	NM_024837.3	204	ccT/ccC	0	1	1	UPI0000055904	0		ENST00000284509		ENSG00000104043	13536		29			HGNC	p.P204P		ATP8B4		SNV							ENST00000557955	protein_coding			hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01652		P		G		754/5677				H0YMB5_HUMAN			YES	ATP8B4,synonymous_variant,p.=,ENST00000284509,NM_024837.3;ATP8B4,synonymous_variant,p.=,ENST00000559829,;RNA5SP394,downstream_gene_variant,,ENST00000364216,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558959,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000560437,;ATP8B4,synonymous_variant,p.=,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;							LOW	612/3579		AT8B4_HUMAN			Transcript			.	ENSP00000284509		CCDS32238.1			1	
FBXW8	0	LGGM	GRCh37	12	117383217	117383217	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	27	24	.	.	ENST00000309909.5:c.472A>G	p.Arg158Gly	p.R158G	ENST00000309909		158	Agg/Ggg	0	1	1	UPI000019AB72	0	getma.org/pdb.php?prot=FBXW8_HUMAN&from=117&to=161&var=R158G	ENST00000309909		ENSG00000174989	13597		51	1.44		HGNC	p.R92G		FBXW8		SNV							ENST00000505227	protein_coding	getma.org/?cm=var&var=hg19,12,117383217,A,G&fts=all		Gene3D:1.20.1280.50,Pfam_domain:PF12937,PROSITE_profiles:PS50181,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF157,SMART_domains:SM00256,Superfamily_domains:SSF81383		R/G		G	low	554/2343		getma.org/?cm=msa&ty=f&p=FBXW8_HUMAN&rb=117&re=161&var=R158G	deleterious(0)				YES	FBXW8,missense_variant,p.Arg92Gly,ENST00000455858,NM_153348.2,NM_012174.1;FBXW8,missense_variant,p.Arg158Gly,ENST00000309909,;							MODERATE	472/1797	R158G	FBXW8_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000310686		CCDS9182.1			1	
BOD1L1	0	LGGM	GRCh37	4	13603248	13603248	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	266	25	.	.	ENST00000040738.5:c.5276G>C	p.Gly1759Ala	p.G1759A	ENST00000040738	NM_148894.2	1759	gGt/gCt	0	1	1	UPI000066D9E3	0	NA	ENST00000040738		ENSG00000038219	31792		291	-0.205		HGNC	p.G1759A		BOD1L1		SNV							ENST00000040738	protein_coding	getma.org/?cm=var&var=hg19,4,13603248,C,G&fts=all		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3		G/A		G	neutral	5412/10565		getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=1610&re=1809&var=G1759A					YES	BOD1L1,missense_variant,p.Gly1759Ala,ENST00000040738,NM_148894.2;							MODERATE	5276/9156	G1759A	BD1L1_HUMAN			Transcript		benign(0.001)	.	ENSP00000040738		CCDS3411.2			1	
NID1	0	LGGM	GRCh37	1	236208763	236208763	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	36	27	.	.	ENST00000264187.6:c.746T>C	p.Leu249Ser	p.L249S	ENST00000264187	NM_002508.2	249	tTg/tCg	0	1	1	UPI000013D4D9	0	NA	ENST00000264187		ENSG00000116962	7821		63	2.92		HGNC	p.L249S	COSM1340332	NID1		SNV						1	ENST00000264187	protein_coding	getma.org/?cm=var&var=hg19,1,236208763,A,G&fts=all		PROSITE_profiles:PS51220,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,Pfam_domain:PF06119,SMART_domains:SM00539		L/S		G	medium	829/5864		getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=176&re=268&var=L249S	deleterious(0.01)				YES	NID1,missense_variant,p.Leu249Ser,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Leu249Ser,ENST00000366595,;					1		MODERATE	746/3744	L249S	NID1_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000264187		CCDS1608.1			1	
LRP1B	0	LGGM	GRCh37	2	141771278	141771278	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	35	27	.	.	ENST00000389484.3:c.2227G>T	p.Gly743Ter	p.G743*	ENST00000389484	NM_018557.2	743	Gga/Tga	0	1	1	UPI00001B045B	0	NA	ENST00000389484		ENSG00000168702	6693		62	0		HGNC	p.G743X		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141771278,C,A&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		G/*		A	NA	3199/16535		NA		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			YES	LRP1B,stop_gained,p.Gly743Ter,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;							HIGH	2227/13800	G743*	LRP1B_HUMAN			Transcript			.	ENSP00000374135		CCDS2182.1			1	
DNAJC22	0	LGGM	GRCh37	12	49742882	49742882	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	74	27	.	.	ENST00000549441.2:c.227T>C	p.Leu76Pro	p.L76P	ENST00000549441		76	cTg/cCg	0	1		UPI000006D2CC	0	NA	ENST00000395069		ENSG00000178401	25802		101	1.79		HGNC	p.L76P		DNAJC22		SNV							ENST00000549441	protein_coding	getma.org/?cm=var&var=hg19,12,49742882,T,C&fts=all				L/P		C	low	848/2059		getma.org/?cm=msa&ty=f&p=DJC22_HUMAN&rb=51&re=250&var=L76P	tolerated(0.08)					DNAJC22,missense_variant,p.Leu76Pro,ENST00000549441,;DNAJC22,missense_variant,p.Leu76Pro,ENST00000395069,NM_024902.2;DNAJC22,upstream_gene_variant,,ENST00000552651,;DNAJC22,upstream_gene_variant,,ENST00000551153,;							MODERATE	227/1026	L76P	DJC22_HUMAN			Transcript		benign(0.004)	.	ENSP00000378508		CCDS8785.1			1	
ZNF284	0	LGGM	GRCh37	19	44591163	44591163	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	256	27	.	.	ENST00000421176.3:c.1532A>C	p.Tyr511Ser	p.Y511S	ENST00000421176	NM_001037813.2	511	tAc/tCc	0	1	1	UPI00005788EA	0	getma.org/pdb.php?prot=ZN284_HUMAN&from=497&to=522&var=Y511S	ENST00000421176		ENSG00000186026	13078		283	3.015		HGNC	p.Y511S		ZNF284		SNV							ENST00000421176	protein_coding	getma.org/?cm=var&var=hg19,19,44591163,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/S		C	medium	1748/4351		getma.org/?cm=msa&ty=f&p=ZN284_HUMAN&rb=477&re=542&var=Y511S	deleterious(0.03)				YES	ZNF284,missense_variant,p.Tyr511Ser,ENST00000421176,NM_001037813.2;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;							MODERATE	1532/1782	Y511S	ZN284_HUMAN			Transcript		benign(0.078)	.	ENSP00000411032		CCDS46099.1			1	
TRPM3	0	LGGM	GRCh37	9	73240432	73240432	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	21	27	.	.	ENST00000377110.3:c.1633-185G>A		*545*	ENST00000377110				0	1	1	UPI0001596895	0	NA	ENST00000377110		ENSG00000083067	17992		48	0		HGNC	p.R392Q		TRPM3		SNV							ENST00000377105	protein_coding	getma.org/?cm=var&var=hg19,9,73240432,C,T&fts=all						T	neutral	-/12258		getma.org/?cm=msa&ty=f&p=H7BYP1_HUMAN&rb=201&re=400&var=R392Q					YES	TRPM3,missense_variant,p.Arg392Gln,ENST00000377105,NM_206945.3,NM_024971.5;TRPM3,missense_variant,p.Arg547Gln,ENST00000357533,;TRPM3,missense_variant,p.Arg392Gln,ENST00000408909,;TRPM3,missense_variant,p.Arg392Gln,ENST00000396280,;TRPM3,intron_variant,,ENST00000377110,;TRPM3,intron_variant,,ENST00000377106,NM_020952.4,NM_206946.3;TRPM3,intron_variant,,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,intron_variant,,ENST00000423814,;TRPM3,intron_variant,,ENST00000396292,;TRPM3,intron_variant,,ENST00000358082,;TRPM3,intron_variant,,ENST00000396285,;TRPM3,intron_variant,,ENST00000377111,NM_001007471.2;							MODIFIER	-/5124	R392Q	TRPM3_HUMAN			Transcript			.	ENSP00000366314		CCDS43835.1			1	
RAI14	0	LGGM	GRCh37	5	34823998	34823998	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	39	28	.	.	ENST00000515799.1:c.2060T>G	p.Leu687Arg	p.L687R	ENST00000515799	NM_001145525.1	687	cTg/cGg	0	1		UPI000013F319	0	NA	ENST00000265109		ENSG00000039560	14873		67	0.975		HGNC	p.L676R		RAI14		SNV							ENST00000506376	protein_coding	getma.org/?cm=var&var=hg19,5,34823998,T,G&fts=all		hmmpanther:PTHR24129		L/R		G	low	2338/5092		getma.org/?cm=msa&ty=f&p=RAI14_HUMAN&rb=281&re=800&var=L684R	tolerated(0.06)	D6RF74_HUMAN,D6REL2_HUMAN,D6RE17_HUMAN,D6RBY4_HUMAN,D6RB27_HUMAN,D6RB25_HUMAN,D6R9G6_HUMAN,D6R9G4_HUMAN,B3KMZ9_HUMAN				RAI14,missense_variant,p.Leu684Arg,ENST00000265109,NM_015577.2,NM_001145522.1;RAI14,missense_variant,p.Leu684Arg,ENST00000428746,NM_001145520.1;RAI14,missense_variant,p.Leu677Arg,ENST00000397449,;RAI14,missense_variant,p.Leu687Arg,ENST00000515799,NM_001145525.1;RAI14,missense_variant,p.Leu684Arg,ENST00000503673,NM_001145521.1;RAI14,missense_variant,p.Leu676Arg,ENST00000506376,NM_001145523.1;RAI14,missense_variant,p.Leu655Arg,ENST00000512629,;RAI14,downstream_gene_variant,,ENST00000508777,;RAI14,upstream_gene_variant,,ENST00000507883,;RAI14,upstream_gene_variant,,ENST00000513772,;							MODERATE	2051/2943	L684R	RAI14_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000265109		CCDS34142.1			1	
DST	0	LGGM	GRCh37	6	56470059	56470059	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	75	28	.	.	ENST00000244364.6:c.3673-5040C>G		*1225*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		103			HGNC	p.L2586V		DST		SNV			1				ENST00000439203	protein_coding							C		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Leu3090Val,ENST00000370754,;DST,missense_variant,p.Leu2912Val,ENST00000370769,;DST,missense_variant,p.Leu2912Val,ENST00000312431,;DST,missense_variant,p.Leu2586Val,ENST00000446842,;DST,missense_variant,p.Leu2912Val,ENST00000361203,;DST,missense_variant,p.Leu2586Val,ENST00000439203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
IGKV2D-30	0	LGGM	GRCh37	2	89976429	89976429	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	54	29	.	.	ENST00000474213.1:c.300C>G	p.Ile100Met	p.I100M	ENST00000474213		100	atC/atG	0	1	1	UPI0000176997	0		ENST00000474213		ENSG00000239571	5801		83			HGNC	p.I100M		IGKV2D-30		SNV							ENST00000474213	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF134,SMART_domains:SM00406,Superfamily_domains:SSF48726		I/M		G		335/395			deleterious(0)				YES	IGKV2D-30,missense_variant,p.Ile100Met,ENST00000474213,;							MODERATE	300/360					Transcript		probably_damaging(1)	.	ENSP00000418948					1	
MAP1LC3C	0	LGGM	GRCh37	1	242159575	242159575	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	27	29	.	.	ENST00000357246.3:c.334G>C	p.Asp112His	p.D112H	ENST00000357246	NM_001004343.2	112	Gat/Cat	0	1	1	UPI0000070E14	0	getma.org/pdb.php?prot=MLP3C_HUMAN&from=21&to=126&var=D112H	ENST00000357246		ENSG00000197769	13353		56	3.935		HGNC	p.D112H		MAP1LC3C		SNV							ENST00000357246	protein_coding	getma.org/?cm=var&var=hg19,1,242159575,C,G&fts=all		Gene3D:3.10.20.90,Pfam_domain:PF02991,hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF24,Superfamily_domains:SSF54236		D/H		G	high	399/1182		getma.org/?cm=msa&ty=f&p=MLP3C_HUMAN&rb=21&re=126&var=D112H	deleterious(0)				YES	MAP1LC3C,missense_variant,p.Asp112His,ENST00000357246,NM_001004343.2;CFL1P4,downstream_gene_variant,,ENST00000451536,;							MODERATE	334/444	D112H	MLP3C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349785		CCDS31074.1			1	
MIER3	0	LGGM	GRCh37	5	56234718	56234718	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	42	30	.	.	ENST00000381213.3:c.307C>A	p.Leu103Ile	p.L103I	ENST00000381213	NM_152622.3	103	Cta/Ata	0	1		UPI000020C79E	0	NA	ENST00000381199		ENSG00000155545	26678		72	2.28		HGNC	p.L108I		MIER3		SNV							ENST00000381226	protein_coding	getma.org/?cm=var&var=hg19,5,56234718,G,T&fts=all		hmmpanther:PTHR10865,hmmpanther:PTHR10865:SF22		L/I		T	medium	318/5188		getma.org/?cm=msa&ty=f&p=MIER3_HUMAN&rb=1&re=175&var=L103I	deleterious(0)	A8MQD4_HUMAN				MIER3,missense_variant,p.Leu108Ile,ENST00000381226,;MIER3,missense_variant,p.Leu103Ile,ENST00000381213,NM_152622.3;MIER3,missense_variant,p.Leu103Ile,ENST00000381199,;MIER3,missense_variant,p.Leu40Ile,ENST00000409421,;MIER3,missense_variant,p.Leu76Ile,ENST00000336942,;AC016644.1,upstream_gene_variant,,ENST00000438553,;MIER3,missense_variant,p.Leu103Ile,ENST00000452157,;MIER3,missense_variant,p.Leu28Ile,ENST00000451637,;MIER3,non_coding_transcript_exon_variant,,ENST00000480115,;							MODERATE	307/1653	L103I	MIER3_HUMAN			Transcript		benign(0.128)	.	ENSP00000370596					1	
STK33	0	LGGM	GRCh37	11	8474401	8474401	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	34	34	.	.	ENST00000447869.1:c.839T>C	p.Leu280Pro	p.L280P	ENST00000447869		280	cTg/cCg	0	1		UPI000004496E	0	getma.org/pdb.php?prot=STK33_HUMAN&from=116&to=381&var=L280P	ENST00000315204		ENSG00000130413	14568		68	2.06		HGNC	p.L280P		STK33		SNV							ENST00000315204	protein_coding	getma.org/?cm=var&var=hg19,11,8474401,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF133,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/P		G	medium	1362/2707		getma.org/?cm=msa&ty=f&p=STK33_HUMAN&rb=116&re=381&var=L280P	deleterious(0)	F8WAK5_HUMAN,E9PNP9_HUMAN,C9JCS6_HUMAN,C9J8B1_HUMAN,C9J6X7_HUMAN,C9J5G1_HUMAN,C9J319_HUMAN,B4DDH2_HUMAN				STK33,missense_variant,p.Leu280Pro,ENST00000447869,;STK33,missense_variant,p.Leu280Pro,ENST00000315204,NM_030906.2;STK33,missense_variant,p.Leu280Pro,ENST00000396672,;STK33,missense_variant,p.Leu280Pro,ENST00000396673,;STK33,missense_variant,p.Leu93Pro,ENST00000358872,;STK33,missense_variant,p.Leu239Pro,ENST00000534493,;STK33,missense_variant,p.Leu35Pro,ENST00000444064,;STK33,missense_variant,p.Leu192Pro,ENST00000524760,;STK33,downstream_gene_variant,,ENST00000418597,;STK33,downstream_gene_variant,,ENST00000422559,;STK33,non_coding_transcript_exon_variant,,ENST00000473980,;STK33,non_coding_transcript_exon_variant,,ENST00000526517,;STK33,non_coding_transcript_exon_variant,,ENST00000486305,;							MODERATE	839/1545	L280P	STK33_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000320754		CCDS7789.1			1	
WRN	0	LGGM	GRCh37	8	30938597	30938597	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	55	37	.	.	ENST00000298139.5:c.1054G>A	p.Asp352Asn	p.D352N	ENST00000298139	NM_000553.4	352	Gat/Aat	0	1	1	UPI000013E49D	0	NA	ENST00000298139		ENSG00000165392	12791		92	2.045		HGNC	p.D352N		WRN		SNV			1				ENST00000298139	protein_coding	getma.org/?cm=var&var=hg19,8,30938597,G,A&fts=all		hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF80		D/N		A	medium	1303/5215		getma.org/?cm=msa&ty=f&p=WRN_HUMAN&rb=241&re=515&var=D352N	tolerated(0.29)				YES	WRN,missense_variant,p.Asp352Asn,ENST00000298139,NM_000553.4;							MODERATE	1054/4299	D352N	WRN_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000298139		CCDS6082.1			1	
WDR52	0	LGGM	GRCh37	3	113084996	113084996	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	19	41	.	.	ENST00000393845.2:c.2605G>A	p.Asp869Asn	p.D869N	ENST00000393845	NM_001164496.1	869	Gat/Aat	0	1		UPI000006D67B	0	getma.org/pdb.php?prot=WDR52_HUMAN&from=804&to=982&var=D869N	ENST00000295868		ENSG00000206530	25631		60	2.075		HGNC	p.D869N		WDR52		SNV							ENST00000295868	protein_coding	getma.org/?cm=var&var=hg19,3,113084996,C,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/N		T	medium	2768/3377		getma.org/?cm=msa&ty=f&p=WDR52_HUMAN&rb=804&re=982&var=D869N	deleterious(0.02)	C9K0A4_HUMAN				WDR52,missense_variant,p.Asp869Asn,ENST00000393845,NM_001164496.1;WDR52,missense_variant,p.Asp6Asn,ENST00000465636,;WDR52,missense_variant,p.Asp869Asn,ENST00000295868,NM_018338.3;WDR52,intron_variant,,ENST00000488854,;WDR52,upstream_gene_variant,,ENST00000490481,;RP11-553D4.2,downstream_gene_variant,,ENST00000462549,;							MODERATE	2605/2949	D869N	WDR52_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000295868		CCDS2972.1			1	
PCLO	0	LGGM	GRCh37	7	82579096	82579096	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	43	43	.	.	ENST00000333891.9:c.10808A>T	p.His3603Leu	p.H3603L	ENST00000333891	NM_033026.5	3603	cAc/cTc	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		86	1.78		HGNC	p.H3603L		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82579096,T,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		H/L		A	low	11146/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=H3534L					YES	PCLO,missense_variant,p.His3603Leu,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.His3603Leu,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.His323Leu,ENST00000437081,;							MODERATE	10808/15429	H3534L	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
MTMR4	0	LGGM	GRCh37	17	56572488	56572488	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	34	43	.	.	ENST00000323456.5:c.3015T>G	p.Pro1005=	p.P1005=	ENST00000323456	NM_004687.4	1005	ccT/ccG	0	1	1	UPI00002010DE	0		ENST00000323456		ENSG00000108389	7452		77			HGNC	p.P948P		MTMR4		SNV							ENST00000579925	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10807:SF64,hmmpanther:PTHR10807		P		C		3140/5839				J3QRJ2_HUMAN			YES	MTMR4,synonymous_variant,p.=,ENST00000323456,NM_004687.4;MTMR4,synonymous_variant,p.=,ENST00000579925,;MTMR4,upstream_gene_variant,,ENST00000578259,;							LOW	3015/3588		MTMR4_HUMAN			Transcript			.	ENSP00000325285		CCDS11608.1			1	
PLXNA2	0	LGGM	GRCh37	1	208390680	208390680	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	101	44	.	.	ENST00000367033.3:c.588G>C	p.Pro196=	p.P196=	ENST00000367033	NM_025179.3	196	ccG/ccC	0	1	1	UPI000022B239	0		ENST00000367033		ENSG00000076356	9100		145			HGNC	p.P196P		PLXNA2		SNV							ENST00000367033	protein_coding			PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF37,hmmpanther:PTHR22625,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		P		G		1346/11444							YES	PLXNA2,synonymous_variant,p.=,ENST00000367033,NM_025179.3;PLXNA2,upstream_gene_variant,,ENST00000460870,;							LOW	588/5685		PLXA2_HUMAN			Transcript			.	ENSP00000356000		CCDS31013.1			1	
ZNF561	0	LGGM	GRCh37	19	9721151	9721151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092610	H092610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	8	50	.	.	ENST00000302851.3:c.1186G>T	p.Val396Phe	p.V396F	ENST00000302851	NM_152289.2	396	Gtt/Ttt	0	1	1	UPI000037525C	0	getma.org/pdb.php?prot=ZN561_HUMAN&from=379&to=404&var=V396F	ENST00000302851		ENSG00000171469	28684		58	1.345		HGNC	p.V327F		ZNF561		SNV							ENST00000424629	protein_coding	getma.org/?cm=var&var=hg19,19,9721151,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF11,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/F		A	low	1550/4693		getma.org/?cm=msa&ty=f&p=ZN561_HUMAN&rb=359&re=424&var=V396F	tolerated(0.08)	F8WAU2_HUMAN,C9JQP3_HUMAN,C9J7U2_HUMAN,B4E2Q8_HUMAN,A8KAD9_HUMAN			YES	ZNF561,missense_variant,p.Val396Phe,ENST00000302851,NM_152289.2;ZNF561,missense_variant,p.Val327Phe,ENST00000424629,;ZNF561,missense_variant,p.Val260Phe,ENST00000354661,;ZNF561,3_prime_UTR_variant,,ENST00000326044,;ZNF561,downstream_gene_variant,,ENST00000444611,;ZNF561,downstream_gene_variant,,ENST00000495503,;ZNF561,downstream_gene_variant,,ENST00000465974,;ZNF561,intron_variant,,ENST00000444802,;ZNF561,downstream_gene_variant,,ENST00000443819,;ZNF561,downstream_gene_variant,,ENST00000457965,;ZNF561,downstream_gene_variant,,ENST00000483768,;ZNF561,downstream_gene_variant,,ENST00000494276,;							MODERATE	1186/1461	V396F	ZN561_HUMAN			Transcript		possibly_damaging(0.845)	.	ENSP00000303915		CCDS12216.2			1	
RP11-793H13.10	0	LGGM	GRCh37	12	53900665	53900665	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	52	55	.	.	ENST00000591834.1:c.1369T>C	p.Tyr457His	p.Y457H	ENST00000591834		457	Tac/Cac	0	1	1	UPI000284122B	0		ENST00000591834		ENSG00000267281			107			Clone_based_vega_gene	p.Y457H		RP11-793H13.10		SNV							ENST00000591834	protein_coding			PIRSF_domain:PIRSF003153		Y/H		G		1419/1609				K7ELQ4_HUMAN,K7EKZ7_HUMAN,F8VWG7_HUMAN			YES	RP11-793H13.10,missense_variant,p.Tyr457His,ENST00000591834,;NPFF,synonymous_variant,p.=,ENST00000609999,;NPFF,synonymous_variant,p.=,ENST00000267017,NM_003717.2;ATF7,downstream_gene_variant,,ENST00000548446,;TARBP2,downstream_gene_variant,,ENST00000266987,NM_134323.1;TARBP2,downstream_gene_variant,,ENST00000394357,NM_134324.2;TARBP2,downstream_gene_variant,,ENST00000456234,NM_004178.4;TARBP2,downstream_gene_variant,,ENST00000550407,;TARBP2,downstream_gene_variant,,ENST00000552857,;TARBP2,downstream_gene_variant,,ENST00000552817,;TARBP2,downstream_gene_variant,,ENST00000549028,;RP11-793H13.10,non_coding_transcript_exon_variant,,ENST00000448979,;TARBP2,downstream_gene_variant,,ENST00000550147,;TARBP2,downstream_gene_variant,,ENST00000549572,;TARBP2,downstream_gene_variant,,ENST00000548971,;TARBP2,downstream_gene_variant,,ENST00000549679,;TARBP2,downstream_gene_variant,,ENST00000549610,;TARBP2,downstream_gene_variant,,ENST00000546889,;TARBP2,downstream_gene_variant,,ENST00000551157,;TARBP2,downstream_gene_variant,,ENST00000551741,;TARBP2,downstream_gene_variant,,ENST00000552650,;TARBP2,downstream_gene_variant,,ENST00000546763,;TARBP2,downstream_gene_variant,,ENST00000547064,;TARBP2,downstream_gene_variant,,ENST00000547388,;TARBP2,downstream_gene_variant,,ENST00000547541,;							MODERATE	1369/1392					Transcript		benign(0.055)	.	ENSP00000466174					1	
PCM1	0	LGGM	GRCh37	8	17814201	17814201	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	57	56	.	.	ENST00000325083.8:c.1561G>T	p.Val521Leu	p.V521L	ENST00000325083	NM_006197.3	521	Gtg/Ttg	0	1	1	UPI0000210A25	0	NA	ENST00000325083		ENSG00000078674	8727		113	1.845		HGNC	p.V560L		PCM1		SNV			1				ENST00000517730	protein_coding	getma.org/?cm=var&var=hg19,8,17814201,G,T&fts=all		hmmpanther:PTHR14164,hmmpanther:PTHR14164:SF12		V/L		T	low	2000/6820		getma.org/?cm=msa&ty=f&p=PCM1_HUMAN&rb=355&re=974&var=V521L	deleterious(0.01)	E5RGQ4_HUMAN			YES	PCM1,missense_variant,p.Val521Leu,ENST00000325083,NM_006197.3;PCM1,missense_variant,p.Val521Leu,ENST00000519253,;PCM1,missense_variant,p.Val521Leu,ENST00000524226,;PCM1,missense_variant,p.Val560Leu,ENST00000517730,;PCM1,downstream_gene_variant,,ENST00000518537,;PCM1,downstream_gene_variant,,ENST00000523055,;PCM1,downstream_gene_variant,,ENST00000518930,;PCM1,upstream_gene_variant,,ENST00000518762,;PCM1,upstream_gene_variant,,ENST00000517836,;							MODERATE	1561/6075	V521L	PCM1_HUMAN			Transcript		benign(0.221)	.	ENSP00000327077		CCDS47812.1			1	
KIAA1407	0	LGGM	GRCh37	3	113753844	113753844	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	33	61	.	.	ENST00000295878.3:c.746T>G	p.Ile249Ser	p.I249S	ENST00000295878	NM_020817.1	249	aTt/aGt	0	1	1	UPI00000732E9	0	NA	ENST00000295878		ENSG00000163617	29272		94	2.215		HGNC	p.I236S		KIAA1407		SNV							ENST00000491000	protein_coding	getma.org/?cm=var&var=hg19,3,113753844,A,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22028:SF3,hmmpanther:PTHR22028		I/S		C	medium	893/3976		getma.org/?cm=msa&ty=f&p=K1407_HUMAN&rb=201&re=400&var=I249S	deleterious(0)				YES	KIAA1407,missense_variant,p.Ile249Ser,ENST00000295878,NM_020817.1;KIAA1407,missense_variant,p.Ile80Ser,ENST00000545063,;KIAA1407,missense_variant,p.Ile236Ser,ENST00000491000,;QTRTD1,intron_variant,,ENST00000472599,;KIAA1407,downstream_gene_variant,,ENST00000483766,;KIAA1407,3_prime_UTR_variant,,ENST00000460813,;KIAA1407,non_coding_transcript_exon_variant,,ENST00000481358,;KIAA1407,downstream_gene_variant,,ENST00000463695,;							MODERATE	746/2811	I249S	K1407_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000295878		CCDS2977.1			1	
SYCP2	0	LGGM	GRCh37	20	58470577	58470577	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	51	70	.	.	ENST00000357552.3:c.1580A>G	p.Gln527Arg	p.Q527R	ENST00000357552		527	cAa/cGa	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		121	0		HGNC	p.Q527R		SYCP2		SNV							ENST00000446834	protein_coding	getma.org/?cm=var&var=hg19,20,58470577,T,C&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		Q/R		C	neutral	1806/5567		getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=401&re=1529&var=Q527R	tolerated(0.18)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Gln527Arg,ENST00000357552,;SYCP2,missense_variant,p.Gln527Arg,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Gln527Arg,ENST00000446834,;							MODERATE	1580/4593	Q527R	SYCP2_HUMAN			Transcript		benign(0.002)	.	ENSP00000350162		CCDS13482.1			1	
NPAT	0	LGGM	GRCh37	11	108044379	108044379	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092610	H092610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	68	72	.	.	ENST00000278612.8:c.1332T>C	p.Phe444=	p.F444=	ENST00000278612	NM_002519.2	444	ttT/ttC	0	1	1	UPI00001FA306	0		ENST00000278612		ENSG00000149308	7896		140			HGNC	p.F444F		NPAT		SNV							ENST00000278612	protein_coding			hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087		F		G		1438/6117							YES	NPAT,synonymous_variant,p.=,ENST00000278612,NM_002519.2;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;NPAT,upstream_gene_variant,,ENST00000530859,;							LOW	1332/4284		NPAT_HUMAN			Transcript			.	ENSP00000278612		CCDS41710.1			1	
HEATR5A	0	LGGM	GRCh37	14	31872136	31872136	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092610	H092610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	77	76	.	.	ENST00000382464.2:c.46C>A	p.Gln16Lys	p.Q16K	ENST00000382464		16	Caa/Aaa	0	1	1	UPI0000160FFB	0	NA	ENST00000382464		ENSG00000129493	20276		153	1.84		HGNC	p.Q16K		HEATR5A		SNV							ENST00000389961	protein_coding	getma.org/?cm=var&var=hg19,14,31872136,G,T&fts=all		hmmpanther:PTHR21663:SF1,hmmpanther:PTHR21663		Q/K		T	low	180/507		getma.org/?cm=msa&ty=f&p=HTR5A_HUMAN&rb=1&re=200&var=Q16K	tolerated(0.11)	F8VQQ6_HUMAN			YES	HEATR5A,missense_variant,p.Gln16Lys,ENST00000543095,NM_015473.3;HEATR5A,missense_variant,p.Gln16Lys,ENST00000389961,;HEATR5A,missense_variant,p.Gln16Lys,ENST00000439348,;HEATR5A,missense_variant,p.Gln16Lys,ENST00000404677,;HEATR5A,missense_variant,p.Gln16Lys,ENST00000382464,;HEATR5A,missense_variant,p.Gln16Lys,ENST00000549184,;RP11-176H8.1,intron_variant,,ENST00000547378,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;							MODERATE	46/342	Q16K	HTR5A_HUMAN			Transcript		benign(0.393)	.	ENSP00000371903					1	
ZNF790	0	LGGM	GRCh37	19	37310556	37310556	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092610	H092610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092610N.bam, H092610T.bam	Illumina HiSeq	10	92	.	.	ENST00000356725.4:c.690A>T	p.Glu230Asp	p.E230D	ENST00000356725	NM_206894.3	230	gaA/gaT	0	1	1	UPI0000160EF0	0	getma.org/pdb.php?prot=ZN790_HUMAN&from=216&to=236&var=E230D	ENST00000356725		ENSG00000197863	33114		102	1.235		HGNC	p.E230D		ZNF790		SNV							ENST00000356725	protein_coding	getma.org/?cm=var&var=hg19,19,37310556,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF224,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355		E/D		A	low	811/3037		getma.org/?cm=msa&ty=f&p=ZN790_HUMAN&rb=196&re=256&var=E230D	tolerated(0.05)	K7EQ58_HUMAN,E9PRR6_HUMAN,E9PQ03_HUMAN,E9PL27_HUMAN			YES	ZNF790,missense_variant,p.Glu230Asp,ENST00000356725,NM_206894.3,NM_001242802.1;ZNF790,downstream_gene_variant,,ENST00000528994,NM_001242801.1;ZNF790,downstream_gene_variant,,ENST00000586323,NM_001242800.1;ZNF790,downstream_gene_variant,,ENST00000527645,;ZNF790,downstream_gene_variant,,ENST00000525288,;CTD-2162K18.5,intron_variant,,ENST00000588906,;CTD-2162K18.5,intron_variant,,ENST00000587278,;							MODERATE	690/1911	E230D	ZN790_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000349161		CCDS12496.1			1	
PITX1	0	LGGM	GRCh37	5	134364520	134364520	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	4	2	.	.	ENST00000265340.7:c.894C>A	p.Gly298=	p.G298=	ENST00000265340	NM_002653.4	298	ggC/ggA	0	1	1	UPI0000169650	0		ENST00000265340		ENSG00000069011	9004		6			HGNC	p.G298G		PITX1		SNV			1				ENST00000265340	protein_coding			hmmpanther:PTHR24329:SF254,hmmpanther:PTHR24329,PIRSF_domain:PIRSF000563		G		T		1311/2406				D6R9U1_HUMAN,D6R955_HUMAN			YES	PITX1,synonymous_variant,p.=,ENST00000265340,NM_002653.4;PITX1,synonymous_variant,p.=,ENST00000506438,;C5orf66,upstream_gene_variant,,ENST00000432382,NM_001277348.1;PITX1,downstream_gene_variant,,ENST00000502676,;PITX1,downstream_gene_variant,,ENST00000503586,;PITX1,downstream_gene_variant,,ENST00000507253,;C5orf66,upstream_gene_variant,,ENST00000505828,;C5orf66,upstream_gene_variant,,ENST00000507641,;PITX1,downstream_gene_variant,,ENST00000504936,;							LOW	894/945		PITX1_HUMAN			Transcript			.	ENSP00000265340		CCDS4182.1			1	
FAM182B	0	LGGM	GRCh37	20	25755562	25755562	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	11	2	.	.	ENST00000376403.1:c.394T>G	p.Trp132Gly	p.W132G	ENST00000376403		132	Tgg/Ggg	0	1	1	UPI000047001E	0		ENST00000376403		ENSG00000175170	34503	0.00758	13			HGNC	p.W132G	rs765679104,COSM3746560	FAM182B		SNV				0.00907		0,1	ENST00000376403	protein_coding					W/G		C		773/1681	0.00476		tolerated_low_confidence(1)				YES	FAM182B,missense_variant,p.Trp132Gly,ENST00000376403,;FAM182B,intron_variant,,ENST00000376404,;FAM182B,downstream_gene_variant,,ENST00000584071,;FAM182B,intron_variant,,ENST00000478164,;FAM182B,intron_variant,,ENST00000485279,;FAM182B,intron_variant,,ENST00000453481,;FAM182B,downstream_gene_variant,,ENST00000582267,;FAM182B,downstream_gene_variant,,ENST00000584356,;	0.00476				0,1		MODERATE	394/459		F182B_HUMAN	0.0133		Transcript		possibly_damaging(0.514)	common_variant	ENSP00000365585	0.00303		0.0176		1	
PDE5A	0	LGGM	GRCh37	4	120528413	120528413	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	24	3	.	.	ENST00000354960.3:c.192C>A	p.Thr64=	p.T64=	ENST00000354960	NM_001083.3	64	acC/acA	0	1	1	UPI000013D571	0		ENST00000354960		ENSG00000138735	8784		27			HGNC	p.T22T		PDE5A		SNV							ENST00000264805	protein_coding			hmmpanther:PTHR11347:SF21,hmmpanther:PTHR11347		T		T		512/7154				Q9P0K6_HUMAN,Q9P0K4_HUMAN,Q4W5L4_HUMAN,G5E9C5_HUMAN,C9JGT3_HUMAN			YES	PDE5A,synonymous_variant,p.=,ENST00000354960,NM_001083.3;PDE5A,synonymous_variant,p.=,ENST00000394439,NM_033437.3;PDE5A,synonymous_variant,p.=,ENST00000264805,NM_033430.2;PDE5A,synonymous_variant,p.=,ENST00000420633,;							LOW	192/2628		PDE5A_HUMAN			Transcript			.	ENSP00000347046		CCDS3713.1			1	
LRIG2	0	LGGM	GRCh37	1	113655267	113655267	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	43	3	.	.	ENST00000361127.5:c.1965C>A	p.Pro655=	p.P655=	ENST00000361127	NM_014813.1	655	ccC/ccA	0	1	1	UPI000006F613	0		ENST00000361127		ENSG00000198799	20889		46			HGNC	p.P655P		LRIG2		SNV			1				ENST00000361127	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF230,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P		A		2163/11555							YES	LRIG2,synonymous_variant,p.=,ENST00000361127,NM_014813.1;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;LRIG2,downstream_gene_variant,,ENST00000466069,;							LOW	1965/3198		LRIG2_HUMAN			Transcript			.	ENSP00000355396		CCDS30808.1			1	
ACTN2	0	LGGM	GRCh37	1	236882229	236882229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	44	3	.	.	ENST00000366578.4:c.277C>T	p.Arg93Trp	p.R93W	ENST00000366578	NM_001278344.1	93	Cgg/Tgg	0	1	1	UPI0000125088	0	getma.org/pdb.php?prot=ACTN2_HUMAN&from=41&to=142&var=R93W	ENST00000366578		ENSG00000077522	164		47	4.13		HGNC	p.R93W	rs760787515	ACTN2		SNV			1	9.61E-05			ENST00000542672	protein_coding	getma.org/?cm=var&var=hg19,1,236882229,C,T&fts=all		Superfamily_domains:SSF47576,SMART_domains:SM00033,Pfam_domain:PF00307,Gene3D:1.10.418.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,PROSITE_profiles:PS50021		R/W		T	high	443/4863		getma.org/?cm=msa&ty=f&p=ACTN2_HUMAN&rb=41&re=142&var=R93W	deleterious(0)	B7Z4P8_HUMAN			YES	ACTN2,missense_variant,p.Arg93Trp,ENST00000366578,NM_001278344.1,NM_001103.3;ACTN2,missense_variant,p.Arg93Trp,ENST00000542672,NM_001278343.1;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;							MODERATE	277/2685	R93W	ACTN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355537	8.24E-06	CCDS1613.1			1	
ZNF546	0	LGGM	GRCh37	19	40513220	40513220	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	41	3	.	.	ENST00000347077.4:c.211C>A	p.Gln71Lys	p.Q71K	ENST00000347077	NM_178544.3	71	Caa/Aaa	0	1	1	UPI00001984E3	0	getma.org/pdb.php?prot=ZN546_HUMAN&from=60&to=100&var=Q71K	ENST00000347077		ENSG00000187187	28671		44	2.25		HGNC	p.Q33K		ZNF546		SNV							ENST00000599504	protein_coding	getma.org/?cm=var&var=hg19,19,40513220,C,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377:SF142,hmmpanther:PTHR24377,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Q/K		A	medium	427/4553		getma.org/?cm=msa&ty=f&p=ZN546_HUMAN&rb=60&re=100&var=Q71K	tolerated(0.09)	M0R292_HUMAN,M0QXR6_HUMAN			YES	ZNF546,missense_variant,p.Gln71Lys,ENST00000347077,NM_178544.3;ZNF546,missense_variant,p.Gln45Lys,ENST00000600094,;ZNF546,missense_variant,p.Gln33Lys,ENST00000599504,;ZNF546,missense_variant,p.Gln33Lys,ENST00000601138,;ZNF546,missense_variant,p.Gln71Lys,ENST00000595225,;ZNF546,intron_variant,,ENST00000596894,;							MODERATE	211/2511	Q71K	ZN546_HUMAN			Transcript		benign(0.149)	.	ENSP00000339823		CCDS12548.1			1	
PIP4K2B	0	LGGM	GRCh37	17	36940529	36940529	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	38	3	.	.	ENST00000269554.3:c.321G>T	p.Arg107=	p.R107=	ENST00000269554	NM_003559.4	107	cgG/cgT	0	1	1	UPI0000032D92	0		ENST00000269554		ENSG00000141720	8998		41			HGNC	p.R107R		PIP4K2B		SNV							ENST00000269554	protein_coding			Gene3D:2gk9B01,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF22,SMART_domains:SM00330,Superfamily_domains:SSF56104		R		A		802/5734				J3QQP6_HUMAN			YES	PIP4K2B,synonymous_variant,p.=,ENST00000269554,NM_003559.4;PIP4K2B,synonymous_variant,p.=,ENST00000581097,;PIP4K2B,non_coding_transcript_exon_variant,,ENST00000311500,;PIP4K2B,upstream_gene_variant,,ENST00000583278,;							LOW	321/1251		PI42B_HUMAN			Transcript			.	ENSP00000269554		CCDS11329.1			1	
SYNE1	0	LGGM	GRCh37	6	152665303	152665303	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	32	3	.	.	ENST00000367255.5:c.12138G>T	p.Gln4046His	p.Q4046H	ENST00000367255	NM_182961.3	4046	caG/caT	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		35	1.845		HGNC	p.Q3975H		SYNE1		SNV			1				ENST00000423061	protein_coding	getma.org/?cm=var&var=hg19,6,152665303,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966		Q/H		A	low	12740/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=3920&re=4119&var=Q4046H					YES	SYNE1,missense_variant,p.Gln4046His,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Gln4046His,ENST00000265368,;SYNE1,missense_variant,p.Gln3975His,ENST00000448038,;SYNE1,missense_variant,p.Gln3975His,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Gln3911His,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;							MODERATE	12138/26394	Q4046H	SYNE1_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000356224		CCDS5236.2			1	
MGP	0	LGGM	GRCh37	12	15038694	15038694	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	27	3	.	.	ENST00000228938.5:c.32C>T	p.Ala11Val	p.A11V	ENST00000228938	NM_001190839.1	11	gCc/gTc	0	1		UPI000013C8E6	0	NA	ENST00000539261		ENSG00000111341	7060		30	2.19		HGNC	p.A11V	rs766423890	MGP		SNV			1				ENST00000228938	protein_coding	getma.org/?cm=var&var=hg19,12,15038694,G,A&fts=all		hmmpanther:PTHR10109,hmmpanther:PTHR10109:SF0,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		A/V		A	medium	167/1405		getma.org/?cm=msa&ty=f&p=MGP_HUMAN&rb=1&re=55&var=A11V	deleterious(0.01)					MGP,missense_variant,p.Ala11Val,ENST00000539261,NM_000900.3;MGP,missense_variant,p.Ala11Val,ENST00000228938,NM_001190839.1;MGP,upstream_gene_variant,,ENST00000545199,;C12orf60,non_coding_transcript_exon_variant,,ENST00000543822,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;MGP,non_coding_transcript_exon_variant,,ENST00000507170,;	0.000117						MODERATE	32/312	A11V	MGP_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000445907	8.24E-06	CCDS8669.1			1	
CCT7	0	LGGM	GRCh37	2	73476143	73476143	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	38	3	.	.	ENST00000258091.5:c.808G>T	p.Glu270Ter	p.E270*	ENST00000258091	NM_006429.3	270	Gag/Tag	0	1	1	UPI0000136B06	0	NA	ENST00000258091		ENSG00000135624	1622		41	0		HGNC	p.E142X		CCT7		SNV							ENST00000538797	protein_coding	getma.org/?cm=var&var=hg19,2,73476143,G,T&fts=all		Superfamily_domains:SSF52029,Gene3D:3.50.7.10,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02345,hmmpanther:PTHR11353:SF22,hmmpanther:PTHR11353		E/*		T	NA	949/1916		NA		F8WAM2_HUMAN			YES	CCT7,stop_gained,p.Glu226Ter,ENST00000539919,NM_001166285.1;CCT7,stop_gained,p.Glu270Ter,ENST00000258091,NM_006429.3;CCT7,stop_gained,p.Glu142Ter,ENST00000538797,;CCT7,stop_gained,p.Glu170Ter,ENST00000537131,;CCT7,stop_gained,p.Glu183Ter,ENST00000540468,NM_001166284.1;CCT7,stop_gained,p.Glu66Ter,ENST00000398422,NM_001009570.2;CCT7,downstream_gene_variant,,ENST00000399032,;CCT7,non_coding_transcript_exon_variant,,ENST00000473786,;CCT7,downstream_gene_variant,,ENST00000469844,;CCT7,non_coding_transcript_exon_variant,,ENST00000488856,;CCT7,downstream_gene_variant,,ENST00000461290,;CCT7,downstream_gene_variant,,ENST00000409924,;							HIGH	808/1632	E270*	TCPH_HUMAN			Transcript			.	ENSP00000258091		CCDS46336.1			1	
EFEMP1	0	LGGM	GRCh37	2	56102100	56102100	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	47	3	.	.	ENST00000394555.2:c.981G>T	p.Val327=	p.V327=	ENST00000394555	NM_001039348.2	327	gtG/gtT	0	1		UPI0000000C12	0		ENST00000355426		ENSG00000115380	3218		50			HGNC	p.V189V		EFEMP1		SNV			1				ENST00000424836	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF12662,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF68,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		V		A		1106/1820				Q580Q6_HUMAN,Q53TA7_HUMAN,C9JUM4_HUMAN,C9JQX7_HUMAN,C9JPZ9_HUMAN,C9J8S9_HUMAN,C9J4J8_HUMAN,C9J4H7_HUMAN				EFEMP1,synonymous_variant,p.=,ENST00000394555,NM_001039348.2,NM_001039349.2;EFEMP1,synonymous_variant,p.=,ENST00000394554,;EFEMP1,synonymous_variant,p.=,ENST00000355426,;EFEMP1,synonymous_variant,p.=,ENST00000424836,;							LOW	981/1482		FBLN3_HUMAN			Transcript			.	ENSP00000347596		CCDS1857.1			1	
HGSNAT	0	LGGM	GRCh37	8	43025815	43025815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	25	3	.	.	ENST00000379644.4:c.721C>A	p.Arg241Ser	p.R241S	ENST00000379644	NM_152419.2	241	Cgc/Agc	0	1	1	UPI000057A06E	0	NA	ENST00000379644		ENSG00000165102	26527		28	1.725		HGNC	p.R269S		HGSNAT		SNV			1				ENST00000458501	protein_coding	getma.org/?cm=var&var=hg19,8,43025815,C,A&fts=all		Pfam_domain:PF07786,hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2		R/S		A	low	763/5236		getma.org/?cm=msa&ty=f&p=HGNAT_HUMAN&rb=267&re=428&var=R269S	deleterious(0.01)				YES	HGSNAT,missense_variant,p.Arg269Ser,ENST00000458501,;HGSNAT,missense_variant,p.Arg241Ser,ENST00000379644,NM_152419.2;HGSNAT,upstream_gene_variant,,ENST00000522082,;HGSNAT,3_prime_UTR_variant,,ENST00000520704,;HGSNAT,downstream_gene_variant,,ENST00000517319,;							MODERATE	721/1908	R269S	HGNAT_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000368965		CCDS47852.1			1	
NOD1	0	LGGM	GRCh37	7	30491125	30491125	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	4	3	.	.	ENST00000222823.4:c.1908C>T	p.Pro636=	p.P636=	ENST00000222823	NM_006092.2	636	ccC/ccT	0	1	1	UPI00000375EE	0		ENST00000222823		ENSG00000106100	16390		7			HGNC	p.P636P	COSM3637885	NOD1		SNV						1	ENST00000434755	protein_coding			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF18		P		A		2434/4499				Q7Z2K1_HUMAN,C9J8X8_HUMAN			YES	NOD1,synonymous_variant,p.=,ENST00000222823,NM_006092.2;NOD1,downstream_gene_variant,,ENST00000423334,;NOD1,synonymous_variant,p.=,ENST00000434755,;NOD1,upstream_gene_variant,,ENST00000489614,;					1		LOW	1908/2862		NOD1_HUMAN			Transcript			.	ENSP00000222823		CCDS5427.1			1	
RASGRP4	0	LGGM	GRCh37	19	38901591	38901591	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	6	3	.	.	ENST00000587738.1:c.1900G>T	p.Gly634Trp	p.G634W	ENST00000587738		634	Ggg/Tgg	0	1	1	UPI0000050F40	0	NA	ENST00000587738		ENSG00000171777	18958		9	0.895		HGNC	p.G542W		RASGRP4		SNV							ENST00000433821	protein_coding	getma.org/?cm=var&var=hg19,19,38901591,C,A&fts=all				G/W		A	low	1971/2293		getma.org/?cm=msa&ty=f&p=GRP4_HUMAN&rb=601&re=671&var=G634W	tolerated(0.09)				YES	RASGRP4,missense_variant,p.Gly600Trp,ENST00000454404,NM_170604.2,NM_001146205.1;RASGRP4,missense_variant,p.Gly620Trp,ENST00000586305,NM_001146202.1;RASGRP4,missense_variant,p.Gly565Trp,ENST00000587753,NM_001146204.1;RASGRP4,missense_variant,p.Gly542Trp,ENST00000433821,NM_001146203.1;RASGRP4,missense_variant,p.Gly537Trp,ENST00000293062,NM_001146207.1;RASGRP4,missense_variant,p.Gly445Trp,ENST00000426920,NM_001146206.1;RASGRP4,missense_variant,p.Gly634Trp,ENST00000587738,;FAM98C,downstream_gene_variant,,ENST00000252530,NM_174905.3;FAM98C,downstream_gene_variant,,ENST00000343358,;FAM98C,downstream_gene_variant,,ENST00000588262,;RASGRP4,missense_variant,p.Gly634Trp,ENST00000589358,;RASGRP4,missense_variant,p.Gly620Trp,ENST00000589474,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000592322,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588404,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000588708,;RASGRP4,non_coding_transcript_exon_variant,,ENST00000587287,;FAM98C,downstream_gene_variant,,ENST00000586372,;FAM98C,downstream_gene_variant,,ENST00000588348,;RASGRP4,downstream_gene_variant,,ENST00000589100,;FAM98C,downstream_gene_variant,,ENST00000589027,;							MODERATE	1900/2022	G634W	GRP4_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000465772		CCDS46068.1			1	
AASS	0	LGGM	GRCh37	7	121773674	121773674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	31	3	.	.	ENST00000393376.1:c.107G>T	p.Trp36Leu	p.W36L	ENST00000393376		36	tGg/tTg	0	1	1	UPI000004A105	0	getma.org/pdb.php?prot=AASS_HUMAN&from=27&to=157&var=W36L	ENST00000393376		ENSG00000008311	17366		34	1.925		HGNC	p.W36L		AASS		SNV			1				ENST00000358954	protein_coding	getma.org/?cm=var&var=hg19,7,121773674,C,A&fts=all		Gene3D:3.40.50.1770,Pfam_domain:PF05222,hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11,SMART_domains:SM01003,Superfamily_domains:SSF52283		W/L		A	medium	203/3233		getma.org/?cm=msa&ty=f&p=AASS_HUMAN&rb=27&re=157&var=W36L	deleterious(0)	A4D0W4_HUMAN			YES	AASS,missense_variant,p.Trp36Leu,ENST00000393376,;AASS,missense_variant,p.Trp36Leu,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,missense_variant,p.Trp36Leu,ENST00000358954,;AASS,missense_variant,p.Trp36Leu,ENST00000431170,;							MODERATE	107/2781	W36L	AASS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377040		CCDS5783.1			1	
BTD	0	LGGM	GRCh37	3	15686937	15686937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	46	3	.	.	ENST00000303498.5:c.1574G>T	p.Arg525Met	p.R525M	ENST00000303498	NM_000060.2	525	aGg/aTg	0	1	1	UPI000013E8A8	0	NA	ENST00000303498		ENSG00000169814	1122		49	1.04		HGNC	p.R525M		BTD		SNV			1				ENST00000303498	protein_coding	getma.org/?cm=var&var=hg19,3,15686937,G,T&fts=all		hmmpanther:PTHR10609:SF13,hmmpanther:PTHR10609,PIRSF_domain:PIRSF011861		R/M		T	low	1683/2075		getma.org/?cm=msa&ty=f&p=BTD_HUMAN&rb=472&re=543&var=R525M	deleterious(0.02)	F8W1Q3_HUMAN,C9JSN9_HUMAN,C9J387_HUMAN			YES	BTD,missense_variant,p.Arg505Met,ENST00000383778,NM_001281725.1;BTD,missense_variant,p.Arg527Met,ENST00000437172,NM_001281724.1;BTD,missense_variant,p.Arg525Met,ENST00000303498,NM_000060.2;BTD,missense_variant,p.Arg527Met,ENST00000449107,NM_001281723.1;BTD,downstream_gene_variant,,ENST00000436193,;BTD,downstream_gene_variant,,ENST00000482824,;							MODERATE	1574/1632	R525M	BTD_HUMAN			Transcript		benign(0.264)	.	ENSP00000306477		CCDS2628.1			1	
AP3B1	0	LGGM	GRCh37	5	77409732	77409732	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	35	3	.	.	ENST00000255194.6:c.2093G>T	p.Ser698Ile	p.S698I	ENST00000255194		698	aGt/aTt	0	1	1	UPI00001AE77D	0	NA	ENST00000255194		ENSG00000132842	566		38	1.83		HGNC	p.S649I		AP3B1		SNV			1				ENST00000519295	protein_coding	getma.org/?cm=var&var=hg19,5,77409732,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF10,Pfam_domain:PF14797,PIRSF_domain:PIRSF037096		S/I		A	low	2269/5838		getma.org/?cm=msa&ty=f&p=AP3B1_HUMAN&rb=672&re=726&var=S698I	deleterious(0)	E5RJ68_HUMAN			YES	AP3B1,missense_variant,p.Ser698Ile,ENST00000255194,;AP3B1,missense_variant,p.Ser649Ile,ENST00000519295,NM_001271769.1,NM_003664.4;AP3B1,upstream_gene_variant,,ENST00000519888,;AP3B1,non_coding_transcript_exon_variant,,ENST00000517940,;							MODERATE	2093/3285	S698I	AP3B1_HUMAN			Transcript		benign(0.403)	.	ENSP00000255194		CCDS4041.1			1	
TCF3	0	LGGM	GRCh37	19	1612376	1612376	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	28	3	.	.	ENST00000344749.5:c.1643G>A	p.Arg548His	p.R548H	ENST00000344749	NM_001136139.2	548	cGc/cAc	0	1	1	UPI0000136C80	0		ENST00000262965		ENSG00000071564	11633		31			HGNC	p.R38H	rs763884772	TCF3		SNV			1				ENST00000585731	protein_coding							T		-/4723	3.03E-05			Q6PJU3_HUMAN,K7EPS2_HUMAN,K7ENI0_HUMAN,K7EKB9_HUMAN,B1NYC3_HUMAN			YES	TCF3,missense_variant,p.Arg548His,ENST00000344749,NM_001136139.2;TCF3,missense_variant,p.Arg463His,ENST00000453954,;TCF3,missense_variant,p.Arg548His,ENST00000588136,;TCF3,missense_variant,p.Arg38His,ENST00000585731,;TCF3,missense_variant,p.Arg56His,ENST00000590684,;TCF3,intron_variant,,ENST00000262965,NM_003200.3;TCF3,intron_variant,,ENST00000395423,;TCF3,intron_variant,,ENST00000593064,;TCF3,intron_variant,,ENST00000592628,;TCF3,intron_variant,,ENST00000587425,;TCF3,downstream_gene_variant,,ENST00000590436,;RNU6-1223P,downstream_gene_variant,,ENST00000517124,;TCF3,3_prime_UTR_variant,,ENST00000592395,;TCF3,3_prime_UTR_variant,,ENST00000585855,;TCF3,intron_variant,,ENST00000586164,;TCF3,downstream_gene_variant,,ENST00000590605,;							MODIFIER	-/1965		TFE2_HUMAN			Transcript			.	ENSP00000262965	1.66E-05	CCDS12074.1			1	
ABTB3	0	LGGM	GRCh37	12	108051443	108051443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	21	3	.	.	ENST00000280758.5:c.3263C>A	p.Ala1088Asp	p.A1088D	ENST00000280758	NM_001018072.1	1088	gCc/gAc	0	1	1	UPI000051901E	0	NA	ENST00000280758		ENSG00000151136	23844		24	2.095		HGNC	p.A625D		BTBD11		SNV							ENST00000357167	protein_coding	getma.org/?cm=var&var=hg19,12,108051443,C,A&fts=all		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF76		A/D		A	medium	3791/5767		getma.org/?cm=msa&ty=f&p=BTBDB_HUMAN&rb=1023&re=1104&var=A1088D	deleterious(0.03)	B3KY13_HUMAN,B3KXB0_HUMAN			YES	BTBD11,missense_variant,p.Ala1088Asp,ENST00000280758,NM_001018072.1;BTBD11,missense_variant,p.Ala625Asp,ENST00000357167,NM_001017523.1;BTBD11,missense_variant,p.Ala969Asp,ENST00000420571,;BTBD11,missense_variant,p.Ala167Asp,ENST00000494235,;							MODERATE	3263/3315	A1088D	BTBDB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000280758		CCDS31893.1			1	
BEST1	0	LGGM	GRCh37	11	61724920	61724920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	40	3	.	.	ENST00000449131.2:c.518C>A	p.Pro173Gln	p.P173Q	ENST00000449131	NM_001139443.1	173	cCa/cAa	0	1		UPI0000138985	0	NA	ENST00000378043		ENSG00000167995	12703		43	4.11		HGNC	p.P127Q		BEST1		SNV			1				ENST00000526988	protein_coding	getma.org/?cm=var&var=hg19,11,61724920,C,A&fts=all		Pfam_domain:PF01062,hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF4		P/Q		A	high	1341/2740		getma.org/?cm=msa&ty=f&p=BEST1_HUMAN&rb=1&re=317&var=P233Q	deleterious(0)					BEST1,missense_variant,p.Pro173Gln,ENST00000449131,NM_001139443.1;BEST1,missense_variant,p.Pro233Gln,ENST00000378043,NM_004183.3;BEST1,missense_variant,p.Pro173Gln,ENST00000378042,;BEST1,missense_variant,p.Pro127Gln,ENST00000526988,;BEST1,missense_variant,p.Pro233Gln,ENST00000435278,;BEST1,intron_variant,,ENST00000301774,;BEST1,intron_variant,,ENST00000534553,;FTH1,downstream_gene_variant,,ENST00000530019,;FTH1,downstream_gene_variant,,ENST00000529191,;FTH1,downstream_gene_variant,,ENST00000529631,;BEST1,missense_variant,p.Pro233Gln,ENST00000524926,;BEST1,non_coding_transcript_exon_variant,,ENST00000524877,;BEST1,non_coding_transcript_exon_variant,,ENST00000529265,;BEST1,downstream_gene_variant,,ENST00000533521,;							MODERATE	698/1758	P233Q	BEST1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000367282		CCDS31580.1			1	
LRP1B	0	LGGM	GRCh37	2	141625812	141625812	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	41	3	.	.	ENST00000389484.3:c.4190G>T	p.Trp1397Leu	p.W1397L	ENST00000389484	NM_018557.2	1397	tGg/tTg	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=1390&to=1434&var=W1397L	ENST00000389484		ENSG00000168702	6693		44	3.64		HGNC	p.W542L		LRP1B		SNV							ENST00000434794	protein_coding	getma.org/?cm=var&var=hg19,2,141625812,C,A&fts=all		Gene3D:2.120.10.30,Pfam_domain:PF00058,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		W/L		A	high	5162/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=1390&re=1434&var=W1397L		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			YES	LRP1B,missense_variant,p.Trp1397Leu,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Trp542Leu,ENST00000434794,;							MODERATE	4190/13800	W1397L	LRP1B_HUMAN			Transcript		benign(0.006)	.	ENSP00000374135		CCDS2182.1			1	
HDAC5	0	LGGM	GRCh37	17	42170575	42170575	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	7	4	.	.	ENST00000225983.6:c.530-1G>T		p.X177_splice	ENST00000225983				0	1		UPI0000201355	0		ENST00000586802		ENSG00000108840	14068		11			HGNC	-		HDAC5		SNV							ENST00000225983	protein_coding							A		-/3662				K7EJZ7_HUMAN,K7EJL6_HUMAN				HDAC5,splice_acceptor_variant,,ENST00000225983,;HDAC5,splice_acceptor_variant,,ENST00000393622,NM_001015053.1,NM_005474.4;HDAC5,splice_acceptor_variant,,ENST00000336057,;HDAC5,splice_acceptor_variant,,ENST00000586802,;HDAC5,upstream_gene_variant,,ENST00000588261,;HDAC5,downstream_gene_variant,,ENST00000591714,;HDAC5,downstream_gene_variant,,ENST00000587135,;HDAC5,downstream_gene_variant,,ENST00000588703,;HDAC5,splice_acceptor_variant,,ENST00000587776,;HDAC5,upstream_gene_variant,,ENST00000592385,;							HIGH	527/3369		HDAC5_HUMAN			Transcript			.	ENSP00000468004		CCDS45696.1			1	
RGS6	0	LGGM	GRCh37	14	73029158	73029158	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	10	4	.	.	ENST00000553525.1:c.1456C>T	p.Leu486=	p.L486=	ENST00000553525	NM_001204424.1	486	Ctg/Ttg	0	1		UPI00001698D1	0		ENST00000553530		ENSG00000182732	10002		14			HGNC	p.L449L		RGS6		SNV							ENST00000343854	protein_coding					L		T		1609/3105				Q2M3K2_HUMAN,B7Z2N1_HUMAN				RGS6,synonymous_variant,p.=,ENST00000553530,NM_004296.5,NM_001204422.1,NM_001204421.1,NM_001204418.1,NM_001204417.1,NM_001204420.1;RGS6,synonymous_variant,p.=,ENST00000553525,NM_001204424.1;RGS6,synonymous_variant,p.=,ENST00000555571,;RGS6,synonymous_variant,p.=,ENST00000556437,NM_001204416.1;RGS6,synonymous_variant,p.=,ENST00000402788,NM_001204423.1;RGS6,synonymous_variant,p.=,ENST00000343854,NM_001204419.1;RGS6,intron_variant,,ENST00000554782,;RP3-514A23.2,intron_variant,,ENST00000555303,;RGS6,non_coding_transcript_exon_variant,,ENST00000554300,;RGS6,3_prime_UTR_variant,,ENST00000554474,;							LOW	1402/1419		RGS6_HUMAN			Transcript			.	ENSP00000452331		CCDS9808.1			1	
SERPING1	0	LGGM	GRCh37	11	57367646	57367646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	63	4	.	.	ENST00000278407.4:c.346C>A	p.Gln116Lys	p.Q116K	ENST00000278407	NM_000062.2	116	Cag/Aag	0	1	1	UPI000000123F	0	NA	ENST00000278407		ENSG00000149131	1228		67	1.75		HGNC	p.Q116K		SERPING1		SNV			1				ENST00000278407	protein_coding	getma.org/?cm=var&var=hg19,11,57367646,C,A&fts=all		hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF156,Low_complexity_(Seg):seg		Q/K		A	low	573/2002		getma.org/?cm=msa&ty=f&p=IC1_HUMAN&rb=1&re=143&var=Q116K	tolerated(0.45)	E9KL26_HUMAN,B5MCB9_HUMAN,B4E1H2_HUMAN			YES	SERPING1,missense_variant,p.Gln150Lys,ENST00000403558,NM_001032295.1;SERPING1,missense_variant,p.Gln116Lys,ENST00000278407,NM_000062.2;SERPING1,missense_variant,p.Gln64Lys,ENST00000378324,;SERPING1,missense_variant,p.Gln121Lys,ENST00000378323,;SERPING1,missense_variant,p.Gln116Lys,ENST00000340687,;SERPING1,missense_variant,p.Gln116Lys,ENST00000405496,;SERPING1,downstream_gene_variant,,ENST00000457869,;SERPING1,upstream_gene_variant,,ENST00000531605,;SERPING1,intron_variant,,ENST00000531133,;SERPING1,intron_variant,,ENST00000531797,;							MODERATE	346/1503	Q116K	IC1_HUMAN			Transcript		benign(0.042)	.	ENSP00000278407		CCDS7962.1			1	
GABRA4	0	LGGM	GRCh37	4	46979573	46979573	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	39	4	.	.	ENST00000264318.3:c.348T>G	p.Ile116Met	p.I116M	ENST00000264318	NM_000809.3	116	atT/atG	0	1	1	UPI0000074200	0	getma.org/pdb.php?prot=GBRA4_HUMAN&from=48&to=256&var=I116M	ENST00000264318		ENSG00000109158	4078		43	1.125		HGNC	p.I116M		GABRA4		SNV							ENST00000264318	protein_coding	getma.org/?cm=var&var=hg19,4,46979573,A,C&fts=all		Prints_domain:PR01079,Superfamily_domains:0038932,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF393		I/M		C	low	1331/11973		getma.org/?cm=msa&ty=f&p=GBRA4_HUMAN&rb=48&re=256&var=I116M	tolerated(0.12)				YES	GABRA4,missense_variant,p.Ile116Met,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,;							MODERATE	348/1665	I116M	GBRA4_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000264318		CCDS3473.1			1	
YAP1	0	LGGM	GRCh37	11	102056857	102056857	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	70	4	.	.	ENST00000282441.5:c.797G>A	p.Arg266His	p.R266H	ENST00000282441	NM_001130145.2	266	cGt/cAt	0	1	1	UPI00000746D8	0	NA	ENST00000282441		ENSG00000137693	16262		74	1.5		HGNC	p.R266H		YAP1		SNV			1				ENST00000531439	protein_coding	getma.org/?cm=var&var=hg19,11,102056857,G,A&fts=all		hmmpanther:PTHR17616,hmmpanther:PTHR17616:SF10		R/H		A	low	1185/5386		getma.org/?cm=msa&ty=f&p=YAP1_HUMAN&rb=262&re=461&var=R266H	tolerated(0.26)				YES	YAP1,missense_variant,p.Arg266His,ENST00000282441,NM_001130145.2,NM_001282101.1;YAP1,missense_variant,p.Arg266His,ENST00000537274,NM_001195044.1,NM_001282100.1;YAP1,missense_variant,p.Arg88His,ENST00000524575,NM_001195045.1;YAP1,missense_variant,p.Arg266His,ENST00000531439,;YAP1,missense_variant,p.Arg16His,ENST00000529029,;YAP1,intron_variant,,ENST00000345877,NM_006106.4,NM_001282098.1;YAP1,intron_variant,,ENST00000526343,;YAP1,non_coding_transcript_exon_variant,,ENST00000526594,;							MODERATE	797/1515	R266H	YAP1_HUMAN			Transcript		benign(0.069)	.	ENSP00000282441		CCDS44716.1			1	
GLIS2	0	LGGM	GRCh37	16	4386810	4386810	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	9	4	.	.	ENST00000262366.3:c.860A>T	p.His287Leu	p.H287L	ENST00000262366		287	cAc/cTc	0	1	1	UPI000013D29C	0	getma.org/pdb.php?prot=GLIS2_HUMAN&from=277&to=292&var=H287L	ENST00000262366		ENSG00000126603	29450		13	3.06		HGNC	p.H287L		GLIS2		SNV			1				ENST00000262366	protein_coding	getma.org/?cm=var&var=hg19,16,4386810,A,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF11,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/L		T	medium	1681/4469		getma.org/?cm=msa&ty=f&p=GLIS2_HUMAN&rb=247&re=322&var=H287L	deleterious(0)	B3KTH4_HUMAN			YES	GLIS2,missense_variant,p.His287Leu,ENST00000262366,;GLIS2,missense_variant,p.His287Leu,ENST00000433375,NM_032575.2;PAM16,intron_variant,,ENST00000577031,;CORO7-PAM16,downstream_gene_variant,,ENST00000572467,NM_001201479.1;PAM16,downstream_gene_variant,,ENST00000573553,;PAM16,downstream_gene_variant,,ENST00000571941,;PAM16,downstream_gene_variant,,ENST00000318059,NM_016069.9;PAM16,downstream_gene_variant,,ENST00000575848,;PAM16,downstream_gene_variant,,ENST00000576217,;RP11-295D4.1,non_coding_transcript_exon_variant,,ENST00000574705,;CORO7-PAM16,downstream_gene_variant,,ENST00000572274,;PAM16,downstream_gene_variant,,ENST00000573614,;PAM16,downstream_gene_variant,,ENST00000573450,;PAM16,downstream_gene_variant,,ENST00000571819,;CORO7-PAM16,downstream_gene_variant,,ENST00000575334,;PAM16,downstream_gene_variant,,ENST00000575636,;PAM16,downstream_gene_variant,,ENST00000573236,;PAM16,downstream_gene_variant,,ENST00000571986,;PAM16,downstream_gene_variant,,ENST00000571178,;							MODERATE	860/1575	H287L	GLIS2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000262366		CCDS10511.1			1	
WNT5B	0	LGGM	GRCh37	12	1749100	1749100	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	10	4	.	.	ENST00000397196.2:c.579C>T	p.Gly193=	p.G193=	ENST00000397196	NM_032642.2	193	ggC/ggT	0	1		UPI0000138F3C	0		ENST00000310594		ENSG00000111186	16265		14			HGNC	p.G193G		WNT5B		SNV							ENST00000537031	protein_coding			Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF87,SMART_domains:SM00097		G		T		724/2184				F5H7Q6_HUMAN,F5H364_HUMAN,F5H034_HUMAN				WNT5B,synonymous_variant,p.=,ENST00000397196,NM_032642.2;WNT5B,synonymous_variant,p.=,ENST00000310594,NM_030775.2;WNT5B,synonymous_variant,p.=,ENST00000537031,;WNT5B,synonymous_variant,p.=,ENST00000543071,;WNT5B,intron_variant,,ENST00000542408,;WNT5B,downstream_gene_variant,,ENST00000545811,;WNT5B,downstream_gene_variant,,ENST00000539198,;WNT5B,upstream_gene_variant,,ENST00000545747,;							LOW	579/1080		WNT5B_HUMAN			Transcript			.	ENSP00000308887		CCDS8510.1			1	
GGA3	0	LGGM	GRCh37	17	73235960	73235960	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	14	5	.	.	ENST00000245541.6:c.1493C>T	p.Pro498Leu	p.P498L	ENST00000245541	NM_138619.2	498	cCc/cTc	0	1		UPI000153CB78	0	NA	ENST00000537686		ENSG00000125447	17079		19	1.59	1072	HGNC	p.P498L		GGA3		SNV							ENST00000245541	protein_coding	getma.org/?cm=var&var=hg19,17,73235960,G,A&fts=all						A	low	-/976		getma.org/?cm=msa&ty=f&p=GGA3_HUMAN&rb=308&re=507&var=P498L		B7Z1E9_HUMAN				GGA3,missense_variant,p.Pro498Leu,ENST00000245541,NM_138619.2;GGA3,missense_variant,p.Pro465Leu,ENST00000351904,NM_014001.3;GGA3,missense_variant,p.Pro426Leu,ENST00000582486,NM_001172703.1;GGA3,missense_variant,p.Pro426Leu,ENST00000582717,;GGA3,missense_variant,p.Pro376Leu,ENST00000578348,NM_001172704.1;GGA3,missense_variant,p.Pro376Leu,ENST00000538886,;NUP85,downstream_gene_variant,,ENST00000447371,;NUP85,downstream_gene_variant,,ENST00000245544,NM_024844.3;NUP85,downstream_gene_variant,,ENST00000579324,;NUP85,downstream_gene_variant,,ENST00000541827,;NUP85,downstream_gene_variant,,ENST00000540768,;NUP85,downstream_gene_variant,,ENST00000579298,;GGA3,downstream_gene_variant,,ENST00000537686,;NUP85,downstream_gene_variant,,ENST00000583070,;GGA3,upstream_gene_variant,,ENST00000583282,;NUP85,downstream_gene_variant,,ENST00000579900,;GGA3,downstream_gene_variant,,ENST00000580799,;GGA3,upstream_gene_variant,,ENST00000578208,;NUP85,downstream_gene_variant,,ENST00000579838,;GGA3,downstream_gene_variant,,ENST00000579743,;GGA3,3_prime_UTR_variant,,ENST00000584978,;GGA3,3_prime_UTR_variant,,ENST00000537584,;GGA3,non_coding_transcript_exon_variant,,ENST00000582200,;GGA3,non_coding_transcript_exon_variant,,ENST00000578275,;GGA3,non_coding_transcript_exon_variant,,ENST00000583667,;NUP85,downstream_gene_variant,,ENST00000581104,;GGA3,downstream_gene_variant,,ENST00000582821,;GGA3,upstream_gene_variant,,ENST00000580646,;GGA3,downstream_gene_variant,,ENST00000584243,;GGA3,upstream_gene_variant,,ENST00000584550,;GGA3,downstream_gene_variant,,ENST00000582232,;GGA3,downstream_gene_variant,,ENST00000582376,;GGA3,downstream_gene_variant,,ENST00000577435,;GGA3,downstream_gene_variant,,ENST00000578896,;GGA3,upstream_gene_variant,,ENST00000578773,;NUP85,downstream_gene_variant,,ENST00000578987,;NUP85,downstream_gene_variant,,ENST00000584155,;							MODIFIER	-/462	P498L				Transcript			.	ENSP00000438085					1	
CDK12	0	LGGM	GRCh37	17	37618799	37618799	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	69	5	.	.	ENST00000447079.4:c.475G>C	p.Asp159His	p.D159H	ENST00000447079	NM_015083.1	159	Gat/Cat	0	1	1	UPI000013E688	0	NA	ENST00000447079		ENSG00000167258	24224		74	0.345		HGNC	p.D159H		CDK12		SNV							ENST00000430627	protein_coding	getma.org/?cm=var&var=hg19,17,37618799,G,C&fts=all				D/H		C	neutral	508/8336		getma.org/?cm=msa&ty=f&p=CDK12_HUMAN&rb=66&re=341&var=D159H					YES	CDK12,missense_variant,p.Asp159His,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,missense_variant,p.Asp159His,ENST00000430627,;CDK12,missense_variant,p.Asp159His,ENST00000584632,;							MODERATE	475/4473	D159H	CDK12_HUMAN			Transcript		unknown(0)	.	ENSP00000398880		CCDS11337.1			1	
MUC1	0	LGGM	GRCh37	1	155160233	155160233	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	14	5	.	.	ENST00000368395.1:c.1046C>T	p.Ala349Val	p.A349V	ENST00000368395	NM_001204285.1	349	gCc/gTc	0	1	1	UPI0000038A9F	0	getma.org/pdb.php?prot=MUC1_HUMAN&from=1038&to=1138&var=A1129V	ENST00000368395		ENSG00000185499	7508		19	2.075		HGNC	p.A138V		MUC1		SNV			1				ENST00000457295	protein_coding	getma.org/?cm=var&var=hg19,1,155160233,G,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR10006,hmmpanther:PTHR10006:SF7,SMART_domains:SM00200		A/V		A	medium	1118/1811		getma.org/?cm=msa&ty=f&p=MUC1_HUMAN&rb=1038&re=1138&var=A1129V	deleterious(0)	Q9UMI8_HUMAN,Q7Z545_HUMAN,Q14877_HUMAN,B1AVQ5_HUMAN			YES	MUC1,missense_variant,p.Ala349Val,ENST00000368395,NM_001204285.1,NM_001204286.1;MUC1,missense_variant,p.Ala138Val,ENST00000457295,;MUC1,missense_variant,p.Ala98Val,ENST00000338684,;MUC1,missense_variant,p.Ala138Val,ENST00000368392,NM_001018017.2,NM_001018016.2,NM_001204288.1,NM_001204287.1;MUC1,missense_variant,p.Ala147Val,ENST00000368393,NM_001204293.1;MUC1,missense_variant,p.Ala103Val,ENST00000438413,NM_001204289.1,NM_001204291.1,NM_001204290.1;MUC1,missense_variant,p.Ala147Val,ENST00000337604,NM_002456.5;MUC1,missense_variant,p.Ala129Val,ENST00000368390,;MUC1,missense_variant,p.Ala104Val,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,;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;TRIM46,downstream_gene_variant,,ENST00000368383,;TRIM46,downstream_gene_variant,,ENST00000545012,;RP11-201K10.3,upstream_gene_variant,,ENST00000473363,;MIR92B,upstream_gene_variant,,ENST00000607575,;MUC1,non_coding_transcript_exon_variant,,ENST00000462215,;MUC1,non_coding_transcript_exon_variant,,ENST00000462317,;MUC1,non_coding_transcript_exon_variant,,ENST00000468978,;MUC1,non_coding_transcript_exon_variant,,ENST00000485118,;MUC1,intron_variant,,ENST00000498431,;MUC1,intron_variant,,ENST00000471283,;MUC1,intron_variant,,ENST00000467134,;TRIM46,downstream_gene_variant,,ENST00000468878,;TRIM46,downstream_gene_variant,,ENST00000474430,;MUC1,downstream_gene_variant,,ENST00000494844,;MUC1,downstream_gene_variant,,ENST00000466913,;							MODERATE	1046/1428	A1129V				Transcript		probably_damaging(0.992)	.	ENSP00000357380		CCDS55640.1			1	
PRKAR2A	0	LGGM	GRCh37	3	48820441	48820441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	31	5	.	.	ENST00000265563.8:c.520G>A	p.Asp174Asn	p.D174N	ENST00000265563	NM_004157.2	174	Gac/Aac	0	1	1	UPI0000161B64	0	getma.org/pdb.php?prot=KAP2_HUMAN&from=157&to=246&var=D174N	ENST00000265563		ENSG00000114302	9391		36	2.62		HGNC	p.D174N		PRKAR2A		SNV							ENST00000454963	protein_coding	getma.org/?cm=var&var=hg19,3,48820441,C,T&fts=all		Gene3D:2.60.120.10,Pfam_domain:PF00027,PIRSF_domain:PIRSF000548,Prints_domain:PR00103,PROSITE_patterns:PS00888,PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF122,SMART_domains:SM00100,Superfamily_domains:SSF51206		D/N		T	medium	770/6471		getma.org/?cm=msa&ty=f&p=KAP2_HUMAN&rb=157&re=246&var=D174N	deleterious(0.01)				YES	PRKAR2A,missense_variant,p.Asp174Asn,ENST00000265563,NM_004157.2;PRKAR2A,missense_variant,p.Asp174Asn,ENST00000296446,;PRKAR2A,missense_variant,p.Asp174Asn,ENST00000454963,;PRKAR2A,missense_variant,p.Asp63Asn,ENST00000437821,;							MODERATE	520/1215	D174N	KAP2_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000265563		CCDS2778.1			1	
DSP	0	LGGM	GRCh37	6	7568119	7568119	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	50	6	.	.	ENST00000379802.3:c.1246G>T	p.Glu416Ter	p.E416*	ENST00000379802	NM_004415.2	416	Gaa/Taa	0	1	1	UPI000013C67F	0	NA	ENST00000379802		ENSG00000096696	3052		56	0		HGNC	p.E416X		DSP		SNV			1				ENST00000379802	protein_coding	getma.org/?cm=var&var=hg19,6,7568119,G,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		E/*		T	NA	1587/9796		NA		G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,stop_gained,p.Glu416Ter,ENST00000379802,NM_004415.2;DSP,stop_gained,p.Glu416Ter,ENST00000418664,NM_001008844.1;DSP,downstream_gene_variant,,ENST00000506617,;							HIGH	1246/8616	E416*	DESP_HUMAN			Transcript			.	ENSP00000369129		CCDS4501.1			1	
TBC1D21	0	LGGM	GRCh37	15	74177148	74177148	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	21	6	.	.	ENST00000300504.2:c.394A>G	p.Lys132Glu	p.K132E	ENST00000300504	NM_153356.1	132	Aaa/Gaa	0	1	1	UPI00000741CB	0	NA	ENST00000300504		ENSG00000167139	28536		27	-0.345		HGNC	p.K96E		TBC1D21		SNV							ENST00000535547	protein_coding	getma.org/?cm=var&var=hg19,15,74177148,A,G&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF258,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		K/E		G	neutral	477/1207		getma.org/?cm=msa&ty=f&p=TBC21_HUMAN&rb=60&re=287&var=K132E	tolerated(0.31)				YES	TBC1D21,missense_variant,p.Lys132Glu,ENST00000300504,NM_153356.1;TBC1D21,missense_variant,p.Lys96Glu,ENST00000535547,NM_001286434.1;TBC1D21,intron_variant,,ENST00000562056,;							MODERATE	394/1011	K132E	TBC21_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000300504		CCDS10252.1			1	
CDK12	0	LGGM	GRCh37	17	37619235	37619235	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	22	6	.	.	ENST00000447079.4:c.911C>A	p.Pro304His	p.P304H	ENST00000447079	NM_015083.1	304	cCc/cAc	0	1	1	UPI000013E688	0	NA	ENST00000447079		ENSG00000167258	24224		28	1.59		HGNC	p.P304H		CDK12		SNV							ENST00000430627	protein_coding	getma.org/?cm=var&var=hg19,17,37619235,C,A&fts=all		Low_complexity_(Seg):seg		P/H		A	low	944/8336		getma.org/?cm=msa&ty=f&p=CDK12_HUMAN&rb=66&re=341&var=P304H					YES	CDK12,missense_variant,p.Pro304His,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,missense_variant,p.Pro304His,ENST00000430627,;CDK12,missense_variant,p.Pro304His,ENST00000584632,;							MODERATE	911/4473	P304H	CDK12_HUMAN			Transcript		unknown(0)	.	ENSP00000398880		CCDS11337.1			1	
CCKBR	0	LGGM	GRCh37	11	6291978	6291978	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	13	6	.	.	ENST00000334619.2:c.756C>T	p.Asp252=	p.D252=	ENST00000334619	NM_176875.3	252	gaC/gaT	0	1	1	UPI0000000C18	0		ENST00000334619		ENSG00000110148	1571		19			HGNC	p.D168D	COSM292902,COSM292903	CCKBR		SNV						1,1	ENST00000532715	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00527,Prints_domain:PR01822,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45		D		T		949/2121							YES	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,;					1,1		LOW	756/1344		GASR_HUMAN			Transcript			.	ENSP00000335544		CCDS7761.1			1	
PPP1R3C	0	LGGM	GRCh37	10	93389770	93389770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	28	6	.	.	ENST00000238994.5:c.868A>G	p.Ile290Val	p.I290V	ENST00000238994	NM_005398.5	290	Atc/Gtc	0	1	1	UPI000006EFF1	0	NA	ENST00000238994		ENSG00000119938	9293		34	0		HGNC	p.I290V		PPP1R3C		SNV							ENST00000238994	protein_coding	getma.org/?cm=var&var=hg19,10,93389770,T,C&fts=all		hmmpanther:PTHR12307:SF4,hmmpanther:PTHR12307,PIRSF_domain:PIRSF500813,PIRSF_domain:PIRSF038207		I/V		C	neutral	953/2524		getma.org/?cm=msa&ty=f&p=PPR3C_HUMAN&rb=258&re=317&var=I290V	tolerated(0.62)	B4DRR5_HUMAN			YES	PPP1R3C,missense_variant,p.Ile290Val,ENST00000238994,NM_005398.5;							MODERATE	868/954	I290V	PPR3C_HUMAN			Transcript		benign(0)	.	ENSP00000238994		CCDS7416.1			1	
ZFHX3	0	LGGM	GRCh37	16	72923682	72923682	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	11	6	.	.	ENST00000268489.5:c.3396C>T	p.Asp1132=	p.D1132=	ENST00000268489	NM_006885.3	1132	gaC/gaT	0	1	1	UPI00001AE937	0		ENST00000268489		ENSG00000140836	777		17			HGNC	p.D1132D	rs376290084	ZFHX3	0.000122	SNV	A:0.0002			9.64E-05			ENST00000268489	protein_coding			hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208		D	A:0	A		4069/16064	4.51E-05			Q6TCJ2_HUMAN			YES	ZFHX3,synonymous_variant,p.=,ENST00000268489,NM_006885.3;ZFHX3,synonymous_variant,p.=,ENST00000397992,NM_001164766.1;ZFHX3,non_coding_transcript_exon_variant,,ENST00000563625,;	0.000116						LOW	3396/11112		ZFHX3_HUMAN			Transcript			.	ENSP00000268489	5.77E-05	CCDS10908.1			1	
GIPR	0	LGGM	GRCh37	19	46184879	46184879	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	17	6	.	.	ENST00000590918.1:c.1170C>A	p.Val390=	p.V390=	ENST00000590918	NM_000164.2	390	gtC/gtA	0	1	1	UPI00000503FD	0		ENST00000590918		ENSG00000010310	4271		23			HGNC	p.V390V		GIPR		SNV							ENST00000590918	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF256,hmmpanther:PTHR12011,PROSITE_patterns:PS00650,Superfamily_domains:SSF81321,Prints_domain:PR00249		V		A		1269/3289				Q4VBP1_HUMAN			YES	GIPR,synonymous_variant,p.=,ENST00000590918,NM_000164.2;GIPR,synonymous_variant,p.=,ENST00000263281,;GIPR,synonymous_variant,p.=,ENST00000304207,;GIPR,downstream_gene_variant,,ENST00000593127,;GIPR,3_prime_UTR_variant,,ENST00000585889,;GIPR,downstream_gene_variant,,ENST00000591224,;							LOW	1170/1401		GIPR_HUMAN			Transcript			.	ENSP00000467494		CCDS12671.1			1	
GIPR	0	LGGM	GRCh37	19	46184878	46184878	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	17	6	.	.	ENST00000590918.1:c.1169T>A	p.Val390Asp	p.V390D	ENST00000590918	NM_000164.2	390	gTc/gAc	0	1	1	UPI00000503FD	0	NA	ENST00000590918		ENSG00000010310	4271		23	2.28		HGNC	p.V390D		GIPR		SNV							ENST00000590918	protein_coding	getma.org/?cm=var&var=hg19,19,46184878,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF256,hmmpanther:PTHR12011,PROSITE_patterns:PS00650,Superfamily_domains:SSF81321,Prints_domain:PR00249		V/D		A	medium	1268/3289		getma.org/?cm=msa&ty=f&p=GIPR_HUMAN&rb=389&re=466&var=V390D	deleterious(0)	Q4VBP1_HUMAN			YES	GIPR,missense_variant,p.Val390Asp,ENST00000590918,NM_000164.2;GIPR,missense_variant,p.Val390Asp,ENST00000263281,;GIPR,missense_variant,p.Val354Asp,ENST00000304207,;GIPR,downstream_gene_variant,,ENST00000593127,;GIPR,3_prime_UTR_variant,,ENST00000585889,;GIPR,downstream_gene_variant,,ENST00000591224,;							MODERATE	1169/1401	V390D	GIPR_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000467494		CCDS12671.1			1	
CYP2A7	0	LGGM	GRCh37	19	41386143	41386143	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	32	6	.	.	ENST00000301146.4:c.500A>C	p.Asn167Thr	p.N167T	ENST00000301146	NM_000764.2	167	aAt/aCt	0	1	1	UPI000013E6D5	0	getma.org/pdb.php?prot=CP2A7_HUMAN&from=34&to=491&var=N167T	ENST00000301146		ENSG00000198077	2611		38	-0.17		HGNC	p.N167T		CYP2A7		SNV							ENST00000301146	protein_coding	getma.org/?cm=var&var=hg19,19,41386143,T,G&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		N/T		G	neutral	1042/2281		getma.org/?cm=msa&ty=f&p=CP2A7_HUMAN&rb=34&re=491&var=N167T	tolerated(0.06)				YES	CYP2A7,missense_variant,p.Asn167Thr,ENST00000301146,NM_000764.2;CYP2A7,missense_variant,p.Asn116Thr,ENST00000291764,NM_030589.2;CYP2A7,3_prime_UTR_variant,,ENST00000594332,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,upstream_gene_variant,,ENST00000598264,;CYP2A7,upstream_gene_variant,,ENST00000602008,;							MODERATE	500/1485	N167T	CP2A7_HUMAN			Transcript		benign(0.004)	.	ENSP00000301146		CCDS12569.1			1	
DSP	0	LGGM	GRCh37	6	7568118	7568118	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	50	6	.	.	ENST00000379802.3:c.1245G>T	p.Leu415=	p.L415=	ENST00000379802	NM_004415.2	415	ctG/ctT	0	1	1	UPI000013C67F	0		ENST00000379802		ENSG00000096696	3052		56			HGNC	p.L415L		DSP		SNV			1				ENST00000379802	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,hmmpanther:PTHR11915:SF234,hmmpanther:PTHR11915		L		T		1586/9796				G1UI31_HUMAN,B4DKX6_HUMAN			YES	DSP,synonymous_variant,p.=,ENST00000379802,NM_004415.2;DSP,synonymous_variant,p.=,ENST00000418664,NM_001008844.1;DSP,downstream_gene_variant,,ENST00000506617,;							LOW	1245/8616		DESP_HUMAN			Transcript			.	ENSP00000369129		CCDS4501.1			1	
TP53	0	LGGM	GRCh37	17	7577121	7577121	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	0	6	.	.	ENST00000269305.4:c.817C>T	p.Arg273Cys	p.R273C	ENST00000269305	NM_001126112.2	273	Cgt/Tgt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R273C	ENST00000269305	uncertain_significance,pathogenic	ENSG00000141510	11998		6	3.145		HGNC	p.R273C	rs121913343,TP53_g.13797C>T,COSM10659,COSM99933,COSM3355991,COSM1645518	TP53		SNV			1			1,0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577121,G,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/C		A	medium	1007/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R273C	deleterious(0)	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			YES	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,;					0,0,1,1,1,1		MODERATE	817/1182	R273C	P53_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000269305		CCDS11118.1			1	
AGO2	0	LGGM	GRCh37	8	141595222	141595222	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	51	7	.	.	ENST00000220592.5:c.211A>C	p.Asn71His	p.N71H	ENST00000220592	NM_012154.3	71	Aac/Cac	0	1	1	UPI0000168652	0	getma.org/pdb.php?prot=AGO2_HUMAN&from=1&to=174&var=N71H	ENST00000220592		ENSG00000123908	3263		58	3.11		HGNC	p.N71H		AGO2		SNV							ENST00000519980	protein_coding	getma.org/?cm=var&var=hg19,8,141595222,T,G&fts=all		Superfamily_domains:SSF101690,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF18,HAMAP:MF_03031		N/H		G	medium	324/3572		getma.org/?cm=msa&ty=f&p=AGO2_HUMAN&rb=1&re=174&var=N71H	deleterious(0)	E5RJY2_HUMAN			YES	AGO2,missense_variant,p.Asn71His,ENST00000220592,NM_012154.3;AGO2,missense_variant,p.Asn71His,ENST00000519980,NM_001164623.1;AGO2,missense_variant,p.Asn25His,ENST00000524328,;AGO2,non_coding_transcript_exon_variant,,ENST00000517293,;AGO2,intron_variant,,ENST00000523609,;							MODERATE	211/2580	N71H	AGO2_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000220592		CCDS6380.1			1	
PAPOLB	0	LGGM	GRCh37	7	4901209	4901209	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	23	7	.	.	ENST00000404991.1:c.230G>A	p.Arg77His	p.R77H	ENST00000404991	NM_020144.4	77	cGc/cAc	0	1	1	UPI0000131304	0	getma.org/pdb.php?prot=PAPOB_HUMAN&from=72&to=175&var=R77H	ENST00000404991		ENSG00000218823	15970		30	2.125		HGNC	p.R77H		PAPOLB		SNV							ENST00000404991	protein_coding	getma.org/?cm=var&var=hg19,7,4901209,C,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04928,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF81301		R/H		T	medium	417/4262		getma.org/?cm=msa&ty=f&p=PAPOB_HUMAN&rb=72&re=175&var=R77H	tolerated(0.14)	A4D1Z6_HUMAN			YES	PAPOLB,missense_variant,p.Arg77His,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,;							MODERATE	230/1911	R77H	PAPOB_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000384700					1	
YWHAB	0	LGGM	GRCh37	20	43530320	43530320	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	83	7	.	.	ENST00000372839.3:c.146C>T	p.Ala49Val	p.A49V	ENST00000372839	NM_003404.4	49	gCc/gTc	0	1		UPI000013C714	0	getma.org/pdb.php?prot=1433B_HUMAN&from=5&to=238&var=A49V	ENST00000353703		ENSG00000166913	12849		90	3.155		HGNC	p.A49V	COSM3546922	YWHAB		SNV						1	ENST00000445830	protein_coding	getma.org/?cm=var&var=hg19,20,43530320,C,T&fts=all		Gene3D:3iquA00,Pfam_domain:PF00244,PIRSF_domain:PIRSF000868,Prints_domain:PR00305,PROSITE_patterns:PS00796,hmmpanther:PTHR18860,SMART_domains:SM00101,Superfamily_domains:SSF48445		A/V		T	medium	360/3049		getma.org/?cm=msa&ty=f&p=1433B_HUMAN&rb=5&re=238&var=A49V	deleterious_low_confidence(0.01)	Q4VY20_HUMAN,Q4VY19_HUMAN				YWHAB,missense_variant,p.Ala49Val,ENST00000372839,NM_003404.4;YWHAB,missense_variant,p.Ala49Val,ENST00000353703,NM_139323.3;YWHAB,missense_variant,p.Ala49Val,ENST00000428262,;YWHAB,missense_variant,p.Ala49Val,ENST00000445830,;YWHAB,non_coding_transcript_exon_variant,,ENST00000479421,;YWHAB,upstream_gene_variant,,ENST00000479758,;YWHAB,upstream_gene_variant,,ENST00000477896,;					1		MODERATE	146/741	A49V	1433B_HUMAN			Transcript		possibly_damaging(0.712)	.	ENSP00000300161		CCDS13339.1			1	
TSHZ3	0	LGGM	GRCh37	19	31767994	31767994	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	7	7	.	.	ENST00000240587.4:c.2705A>G	p.His902Arg	p.H902R	ENST00000240587	NM_020856.2	902	cAc/cGc	0	1	1	UPI0000202000	0	NA	ENST00000240587		ENSG00000121297	30700		14	1.87		HGNC	p.H902R		TSHZ3		SNV							ENST00000240587	protein_coding	getma.org/?cm=var&var=hg19,19,31767994,T,C&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5,Gene3D:1.10.10.60,SMART_domains:SM00389		H/R		C	low	3033/5176		getma.org/?cm=msa&ty=f&p=TSH3_HUMAN&rb=825&re=1024&var=H902R	deleterious(0)	A1L0U7_HUMAN			YES	TSHZ3,missense_variant,p.His902Arg,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;							MODERATE	2705/3246	H902R	TSH3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000240587		CCDS12421.2			1	
TBX22	0	LGGM	GRCh37	X	79277772	79277772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	4	7	.	.	ENST00000373294.5:c.4G>T	p.Ala2Ser	p.A2S	ENST00000373294	NM_016954.2	2	Gct/Tct	0	1	1	UPI00001377ED	0	NA	ENST00000373294		ENSG00000122145	11600		11	1.735		HGNC	p.A2S		TBX22		SNV			1				ENST00000373294	protein_coding	getma.org/?cm=var&var=hg19,X,79277772,G,T&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97		A/S		T	low	32/2249		getma.org/?cm=msa&ty=f&p=TBX22_HUMAN&rb=1&re=92&var=A2S	deleterious(0.01)	C3TX51_HUMAN			YES	TBX22,missense_variant,p.Ala2Ser,ENST00000373294,NM_016954.2;TBX22,missense_variant,p.Ala2Ser,ENST00000373296,;TBX22,5_prime_UTR_variant,,ENST00000442340,NM_001109878.1,NM_001109879.1;TBX22,upstream_gene_variant,,ENST00000373291,;TBX22,non_coding_transcript_exon_variant,,ENST00000476373,;							MODERATE	4/1563	A2S	TBX22_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000362390		CCDS14445.1			1	
FAT2	0	LGGM	GRCh37	5	150947703	150947703	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	22	8	.	.	ENST00000261800.5:c.790C>A	p.Pro264Thr	p.P264T	ENST00000261800	NM_001447.2	264	Cca/Aca	0	1	1	UPI0000055B22	0	NA	ENST00000261800		ENSG00000086570	3596		30	1.59		HGNC	p.P264T		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150947703,G,T&fts=all		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37		P/T		T	low	803/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=248&re=447&var=P264T					YES	FAT2,missense_variant,p.Pro264Thr,ENST00000261800,NM_001447.2;							MODERATE	790/13050	P264T	FAT2_HUMAN			Transcript		benign(0.005)	.	ENSP00000261800		CCDS4317.1			1	
ITGB4	0	LGGM	GRCh37	17	73738784	73738784	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	9	8	.	.	ENST00000200181.3:c.2904C>A	p.Pro968=	p.P968=	ENST00000200181	NM_000213.3	968	ccC/ccA	0	1	1	UPI00001AE5C0	0		ENST00000200181		ENSG00000132470	6158		17			HGNC	p.P968P		ITGB4		SNV			1				ENST00000450894	protein_coding			hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002513		P		A		3091/5919							YES	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,downstream_gene_variant,,ENST00000584558,;ITGB4,downstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584025,;ITGB4,downstream_gene_variant,,ENST00000580542,;							LOW	2904/5469		ITB4_HUMAN			Transcript			.	ENSP00000200181		CCDS11727.1			1	
IGHV3-15	0	LGGM	GRCh37	14	106610314	106610314	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	32	8	.	.	ENST00000390603.2:c.356C>T	p.Thr119Ile	p.T119I	ENST00000390603		119	aCa/aTa	0	1	1	UPI0000116480	0		ENST00000390603		ENSG00000211943	5582		40			HGNC	p.T119I		IGHV3-15		SNV							ENST00000390603	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF91,hmmpanther:PTHR23266,SMART_domains:SM00406		T/I		A		436/437			deleterious_low_confidence(0)				YES	IGHV3-15,missense_variant,p.Thr119Ile,ENST00000390603,;							MODERATE	356/357					Transcript		benign(0.017)	.	ENSP00000375012					1	
GRM8	0	LGGM	GRCh37	7	126086145	126086145	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	24	8	.	.	ENST00000339582.2:c.2677+35C>T		*893*	ENST00000339582				0	1	1	UPI000012F085	0		ENST00000339582		ENSG00000179603	4600		32			HGNC	p.S904S	rs377725509	GRM8		SNV	A:0						ENST00000358373	protein_coding						A:0.0001	A		-/4057	7.52E-05			E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,synonymous_variant,p.=,ENST00000358373,NM_001127323.1;GRM8,intron_variant,,ENST00000339582,;GRM8,intron_variant,,ENST00000444921,NM_000845.2;GRM8,non_coding_transcript_exon_variant,,ENST00000495315,;GRM8,intron_variant,,ENST00000489939,;GRM8,synonymous_variant,p.=,ENST00000472701,;GRM8,intron_variant,,ENST00000341617,;							MODIFIER	-/2727		GRM8_HUMAN			Transcript			.	ENSP00000344173	4.12E-05	CCDS5794.1			1	
PCDHB6	0	LGGM	GRCh37	5	140530574	140530574	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	21	8	.	.	ENST00000231136.1:c.736T>C	p.Tyr246His	p.Y246H	ENST00000231136	NM_018939.2	246	Tat/Cat	0	1	1	UPI00001273E2	0	getma.org/pdb.php?prot=PCDB6_HUMAN&from=246&to=336&var=Y246H	ENST00000231136		ENSG00000113211	8691		29	4.075		HGNC	p.Y110H		PCDHB6		SNV							ENST00000543635	protein_coding	getma.org/?cm=var&var=hg19,5,140530574,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF104,Superfamily_domains:SSF49313		Y/H		C	high	736/3030		getma.org/?cm=msa&ty=f&p=PCDB6_HUMAN&rb=246&re=336&var=Y246H	deleterious(0)	F5H446_HUMAN			YES	PCDHB6,missense_variant,p.Tyr246His,ENST00000231136,NM_018939.2;PCDHB6,missense_variant,p.Tyr110His,ENST00000543635,;							MODERATE	736/2385	Y246H	PCDB6_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000231136		CCDS4248.1			1	
SIRT7	0	LGGM	GRCh37	17	79872029	79872029	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	24	8	.	.	ENST00000328666.6:c.831C>A	p.Tyr277Ter	p.Y277*	ENST00000328666	NM_016538.2	277	taC/taA	0	1	1	UPI0000072CE1	0	NA	ENST00000328666		ENSG00000187531	14935		32	0		HGNC	p.Y277X		SIRT7		SNV							ENST00000328666	protein_coding	getma.org/?cm=var&var=hg19,17,79872029,G,T&fts=all		Gene3D:3.40.50.1220,PROSITE_profiles:PS50305,hmmpanther:PTHR11085,hmmpanther:PTHR11085:SF1,Superfamily_domains:SSF52467		Y/*		T	NA	894/1743		NA		I3L480_HUMAN			YES	SIRT7,stop_gained,p.Tyr277Ter,ENST00000328666,NM_016538.2;SIRT7,stop_gained,p.Tyr128Ter,ENST00000572902,;PCYT2,upstream_gene_variant,,ENST00000538936,NM_001256435.1,NM_002861.3;MAFG,downstream_gene_variant,,ENST00000357736,NM_002359.3,NM_032711.3;PCYT2,upstream_gene_variant,,ENST00000331285,;PCYT2,upstream_gene_variant,,ENST00000570391,NM_001282204.1;PCYT2,upstream_gene_variant,,ENST00000538721,NM_001184917.1,NM_001256434.1;PCYT2,upstream_gene_variant,,ENST00000571105,;PCYT2,upstream_gene_variant,,ENST00000570388,;PCYT2,upstream_gene_variant,,ENST00000576343,NM_001256433.1;PCYT2,upstream_gene_variant,,ENST00000573636,;PCYT2,upstream_gene_variant,,ENST00000573927,;PCYT2,upstream_gene_variant,,ENST00000572473,;PCYT2,upstream_gene_variant,,ENST00000572157,;SIRT7,non_coding_transcript_exon_variant,,ENST00000574992,;SIRT7,non_coding_transcript_exon_variant,,ENST00000572976,;SIRT7,non_coding_transcript_exon_variant,,ENST00000571832,;SIRT7,non_coding_transcript_exon_variant,,ENST00000536038,;SIRT7,non_coding_transcript_exon_variant,,ENST00000576156,;SIRT7,non_coding_transcript_exon_variant,,ENST00000572350,;SIRT7,non_coding_transcript_exon_variant,,ENST00000571233,;SIRT7,non_coding_transcript_exon_variant,,ENST00000574153,;PCYT2,upstream_gene_variant,,ENST00000573401,;PCYT2,upstream_gene_variant,,ENST00000571581,;SIRT7,downstream_gene_variant,,ENST00000574495,;SIRT7,downstream_gene_variant,,ENST00000577065,;SIRT7,downstream_gene_variant,,ENST00000575244,;SIRT7,downstream_gene_variant,,ENST00000575360,;SIRT7,downstream_gene_variant,,ENST00000573367,;SIRT7,downstream_gene_variant,,ENST00000570367,;SIRT7,downstream_gene_variant,,ENST00000571213,;SIRT7,downstream_gene_variant,,ENST00000571915,;SIRT7,downstream_gene_variant,,ENST00000572671,;SIRT7,downstream_gene_variant,,ENST00000573576,;SIRT7,downstream_gene_variant,,ENST00000574915,;							HIGH	831/1203	Y277*	SIR7_HUMAN			Transcript			.	ENSP00000329466		CCDS11792.1			1	
MYO1F	0	LGGM	GRCh37	19	8620513	8620513	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	5	8	.	.	ENST00000338257.8:c.141+30G>A		*47*	ENST00000338257	NM_012335.3			0	1	1	UPI00001678F0	0		ENST00000338257		ENSG00000142347	7600		13			HGNC	p.Q57Q		MYO1F		SNV							ENST00000596675	protein_coding							T		-/4303				Q14779_HUMAN,M0QXU2_HUMAN			YES	MYO1F,splice_region_variant,p.=,ENST00000596675,;MYO1F,intron_variant,,ENST00000338257,NM_012335.3;MYO1F,splice_region_variant,,ENST00000598321,;MYO1F,non_coding_transcript_exon_variant,,ENST00000596645,;MYO1F,intron_variant,,ENST00000594977,;MYO1F,intron_variant,,ENST00000595325,;MYO1F,intron_variant,,ENST00000594774,;MYO1F,intron_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000595191,;MYO1F,upstream_gene_variant,,ENST00000598529,;							MODIFIER	-/3297		MYO1F_HUMAN			Transcript			.	ENSP00000344871		CCDS42494.1			1	
WDR73	0	LGGM	GRCh37	15	85188895	85188895	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	14	8	.	.	ENST00000434634.2:c.690T>C	p.Val230=	p.V230=	ENST00000434634	NM_032856.2	230	gtT/gtC	0	1	1	UPI000004A084	0		ENST00000434634		ENSG00000177082	25928		22			HGNC	p.V230V		WDR73		SNV			1				ENST00000434634	protein_coding			hmmpanther:PTHR22850:SF99,hmmpanther:PTHR22850,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		V		G		751/1900							YES	WDR73,synonymous_variant,p.=,ENST00000434634,NM_032856.2;WDR73,non_coding_transcript_exon_variant,,ENST00000398528,;SCAND2P,downstream_gene_variant,,ENST00000348993,;WDR73,downstream_gene_variant,,ENST00000560835,;WDR73,downstream_gene_variant,,ENST00000561447,;WDR73,3_prime_UTR_variant,,ENST00000558521,;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,downstream_gene_variant,,ENST00000560252,;WDR73,downstream_gene_variant,,ENST00000561329,;WDR73,downstream_gene_variant,,ENST00000559178,;WDR73,downstream_gene_variant,,ENST00000558487,;WDR73,downstream_gene_variant,,ENST00000559877,;WDR73,downstream_gene_variant,,ENST00000560182,;WDR73,downstream_gene_variant,,ENST00000558019,;WDR73,downstream_gene_variant,,ENST00000560088,;SCAND2P,downstream_gene_variant,,ENST00000541103,;							LOW	690/1137		WDR73_HUMAN			Transcript			.	ENSP00000387982		CCDS45339.1			1	
CYP2A7	0	LGGM	GRCh37	19	41386099	41386099	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	32	9	.	.	ENST00000301146.4:c.544A>C	p.Ile182Leu	p.I182L	ENST00000301146	NM_000764.2	182	Atc/Ctc	0	1	1	UPI000013E6D5	0	getma.org/pdb.php?prot=CP2A7_HUMAN&from=34&to=491&var=I182L	ENST00000301146		ENSG00000198077	2611		41	2.26		HGNC	p.I182L		CYP2A7		SNV							ENST00000301146	protein_coding	getma.org/?cm=var&var=hg19,19,41386099,T,G&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463		I/L		G	medium	1086/2281		getma.org/?cm=msa&ty=f&p=CP2A7_HUMAN&rb=34&re=491&var=I182L	deleterious(0.01)				YES	CYP2A7,missense_variant,p.Ile182Leu,ENST00000301146,NM_000764.2;CYP2A7,missense_variant,p.Ile131Leu,ENST00000291764,NM_030589.2;CYP2A7,3_prime_UTR_variant,,ENST00000594332,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,upstream_gene_variant,,ENST00000598264,;CYP2A7,upstream_gene_variant,,ENST00000602008,;							MODERATE	544/1485	I182L	CP2A7_HUMAN			Transcript		benign(0.137)	.	ENSP00000301146		CCDS12569.1			1	
COBL	0	LGGM	GRCh37	7	51095561	51095561	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	30	9	.	.	ENST00000265136.7:c.3232A>G	p.Asn1078Asp	p.N1078D	ENST00000265136	NM_015198.3	1078	Aat/Gat	0	1	1	UPI00001A9480	0	NA	ENST00000265136		ENSG00000106078	22199		39	0.345		HGNC	p.N963D		COBL		SNV							ENST00000431948	protein_coding	getma.org/?cm=var&var=hg19,7,51095561,T,C&fts=all		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1		N/D		C	neutral	3398/5291		getma.org/?cm=msa&ty=f&p=COBL_HUMAN&rb=941&re=1105&var=N1078D	tolerated(0.27)	C9J9X1_HUMAN			YES	COBL,missense_variant,p.Asn1160Asp,ENST00000395542,;COBL,missense_variant,p.Asn1078Asp,ENST00000265136,NM_015198.3;COBL,missense_variant,p.Asn963Asp,ENST00000431948,;COBL,missense_variant,p.Asn970Asp,ENST00000445054,;COBL,downstream_gene_variant,,ENST00000452534,;RP4-724E13.2,downstream_gene_variant,,ENST00000582616,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;							MODERATE	3232/3786	N1078D	COBL_HUMAN			Transcript		benign(0.021)	.	ENSP00000265136		CCDS34637.1			1	
SEC16A	0	LGGM	GRCh37	9	139368714	139368714	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	6	9	.	.	ENST00000313050.7:c.3354G>T	p.Gln1118His	p.Q1118H	ENST00000313050	NM_014866.1	1118	caG/caT	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006		15	1.245		HGNC	p.Q1118H		SEC16A		SNV							ENST00000313050	protein_coding	getma.org/?cm=var&var=hg19,9,139368714,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7		Q/H		A	low	3428/8806		getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=892&re=1091&var=Q940H	tolerated(0.07)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Gln1118His,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Gln940His,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Gln940His,ENST00000290037,;SEC16A,missense_variant,p.Gln940His,ENST00000431893,;							MODERATE	3354/7074	Q940H				Transcript		possibly_damaging(0.805)	.	ENSP00000325827		CCDS55351.1			1	
VPS13B	0	LGGM	GRCh37	8	100403858	100403858	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	50	10	.	.	ENST00000358544.2:c.3008C>T	p.Ala1003Val	p.A1003V	ENST00000358544	NM_017890.4	1003	gCc/gTc	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		60	0.895		HGNC	p.A1003V	rs371660958	VPS13B		SNV			1				ENST00000496144	protein_coding	getma.org/?cm=var&var=hg19,8,100403858,C,T&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		A/V		T	low	3119/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=921&re=1120&var=A1003V	deleterious(0.03)				YES	VPS13B,missense_variant,p.Ala1003Val,ENST00000395996,;VPS13B,missense_variant,p.Ala1003Val,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Ala1003Val,ENST00000357162,NM_152564.4;VPS13B,non_coding_transcript_exon_variant,,ENST00000522802,;VPS13B,non_coding_transcript_exon_variant,,ENST00000521037,;VPS13B,missense_variant,p.Ala1003Val,ENST00000496144,;							MODERATE	3008/12069	A1003V	VP13B_HUMAN			Transcript		possibly_damaging(0.611)	.	ENSP00000351346		CCDS6280.1			1	
TSPAN5	0	LGGM	GRCh37	4	99397433	99397433	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	24	10	.	.	ENST00000305798.3:c.648C>G	p.Ile216Met	p.I216M	ENST00000305798	NM_005723.3	216	atC/atG	0	1	1	UPI0000022DE0	0	NA	ENST00000305798		ENSG00000168785	17753		34	3.68		HGNC	p.I216M		TSPAN5		SNV							ENST00000305798	protein_coding	getma.org/?cm=var&var=hg19,4,99397433,G,C&fts=all		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF63		I/M		C	high	1051/3365		getma.org/?cm=msa&ty=f&p=TSN5_HUMAN&rb=14&re=261&var=I216M	deleterious(0)	D6RGZ7_HUMAN,D6R9N6_HUMAN,B7Z317_HUMAN			YES	TSPAN5,missense_variant,p.Ile216Met,ENST00000305798,NM_005723.3;TSPAN5,missense_variant,p.Ile145Met,ENST00000505184,;TSPAN5,downstream_gene_variant,,ENST00000515287,;TSPAN5,downstream_gene_variant,,ENST00000509168,;TSPAN5,3_prime_UTR_variant,,ENST00000508798,;TSPAN5,non_coding_transcript_exon_variant,,ENST00000511753,;TSPAN5,downstream_gene_variant,,ENST00000515440,;							MODERATE	648/807	I216M	TSN5_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000307701		CCDS3646.1			1	
BRD9	0	LGGM	GRCh37	5	891929	891929	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	17	10	.	.	ENST00000467963.1:c.93C>G	p.Val31=	p.V31=	ENST00000467963	NM_023924.4	31	gtC/gtG	0	1	1	UPI000020BEBE	0		ENST00000467963		ENSG00000028310	25818		27			HGNC	p.V31V		BRD9		SNV							ENST00000467963	protein_coding			hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF4,Low_complexity_(Seg):seg		V		C		260/2156							YES	BRD9,synonymous_variant,p.=,ENST00000467963,NM_023924.4;BRD9,5_prime_UTR_variant,,ENST00000483173,NM_001009877.2;BRD9,5_prime_UTR_variant,,ENST00000435709,;TRIP13,upstream_gene_variant,,ENST00000166345,NM_004237.3;BRD9,upstream_gene_variant,,ENST00000323510,;BRD9,upstream_gene_variant,,ENST00000388890,;BRD9,upstream_gene_variant,,ENST00000489093,;TRIP13,upstream_gene_variant,,ENST00000513435,;BRD9,upstream_gene_variant,,ENST00000494422,;TRIP13,upstream_gene_variant,,ENST00000508456,;BRD9,5_prime_UTR_variant,,ENST00000489816,;BRD9,5_prime_UTR_variant,,ENST00000495265,;BRD9,5_prime_UTR_variant,,ENST00000466684,;BRD9,5_prime_UTR_variant,,ENST00000487688,;BRD9,upstream_gene_variant,,ENST00000495794,;BRD9,upstream_gene_variant,,ENST00000490814,;TRIP13,upstream_gene_variant,,ENST00000512024,;							LOW	93/1794		BRD9_HUMAN			Transcript			.	ENSP00000419765		CCDS34127.2			1	
SIL1	0	LGGM	GRCh37	5	138287538	138287538	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	20	10	.	.	ENST00000394817.2:c.803G>A	p.Gly268Glu	p.G268E	ENST00000394817	NM_022464.4	268	gGa/gAa	0	1		UPI000003ED21	0	getma.org/pdb.php?prot=SIL1_HUMAN&from=44&to=459&var=G268E	ENST00000265195		ENSG00000120725	24624		30	2.65		HGNC	p.G268E		SIL1		SNV			1				ENST00000265195	protein_coding	getma.org/?cm=var&var=hg19,5,138287538,C,T&fts=all		hmmpanther:PTHR19316,hmmpanther:PTHR19316:SF6,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		G/E		T	medium	949/1895		getma.org/?cm=msa&ty=f&p=SIL1_HUMAN&rb=44&re=459&var=G268E	deleterious(0)	D6RIU8_HUMAN,D6RBP7_HUMAN,D6R940_HUMAN				SIL1,missense_variant,p.Gly268Glu,ENST00000394817,NM_022464.4;SIL1,missense_variant,p.Gly268Glu,ENST00000265195,NM_001037633.1;SIL1,missense_variant,p.Gly275Glu,ENST00000509534,;SIL1,missense_variant,p.Gly74Glu,ENST00000505945,;SIL1,non_coding_transcript_exon_variant,,ENST00000515008,;SIL1,non_coding_transcript_exon_variant,,ENST00000503732,;							MODERATE	803/1386	G268E	SIL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265195		CCDS4209.1			1	
ZMYND8	0	LGGM	GRCh37	20	45858485	45858485	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	27	11	.	.	ENST00000461685.1:c.2786G>T	p.Ser929Ile	p.S929I	ENST00000461685		929	aGc/aTc	0	1		UPI0000131B67	0	NA	ENST00000311275		ENSG00000101040	9397		38	1.78		HGNC	p.S909I		ZMYND8		SNV							ENST00000262975	protein_coding	getma.org/?cm=var&var=hg19,20,45858485,C,A&fts=all		hmmpanther:PTHR24102,hmmpanther:PTHR24102:SF13		S/I		A	low	3118/5362		getma.org/?cm=msa&ty=f&p=PKCB1_HUMAN&rb=634&re=1025&var=S955I	deleterious(0.05)	Q5TH08_HUMAN,Q5TH07_HUMAN				ZMYND8,missense_variant,p.Ser955Ile,ENST00000311275,NM_001281783.1,NM_001281778.1,NM_001281772.1;ZMYND8,missense_variant,p.Ser904Ile,ENST00000360911,NM_183048.1,NM_012408.3;ZMYND8,missense_variant,p.Ser909Ile,ENST00000262975,NM_001281774.1;ZMYND8,missense_variant,p.Ser955Ile,ENST00000396281,;ZMYND8,missense_variant,p.Ser975Ile,ENST00000471951,NM_183047.1,NM_001281775.1;ZMYND8,missense_variant,p.Ser982Ile,ENST00000536340,;ZMYND8,missense_variant,p.Ser955Ile,ENST00000355972,NM_001281773.1;ZMYND8,missense_variant,p.Ser929Ile,ENST00000352431,;ZMYND8,missense_variant,p.Ser823Ile,ENST00000458360,NM_001281771.1;ZMYND8,missense_variant,p.Ser836Ile,ENST00000467200,NM_001281777.1;ZMYND8,missense_variant,p.Ser929Ile,ENST00000461685,;ZMYND8,missense_variant,p.Ser846Ile,ENST00000446994,;ZMYND8,missense_variant,p.Ser903Ile,ENST00000540497,NM_001281784.1;ZMYND8,intron_variant,,ENST00000372023,NM_001281782.1;							MODERATE	2864/3561	S955I	PKCB1_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000312237					1	
IGHM	0	LGGM	GRCh37	14	106321712	106321712	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	5	11	.	.	ENST00000390559.2:c.522G>A	p.Thr174=	p.T174=	ENST00000390559		174	acG/acA	0	1	1	UPI000173A6A1	0		ENST00000390559		ENSG00000211899	5541		16			HGNC	p.T174T	rs370384855	IGHM		SNV	T:0.0002		1	0.000106			ENST00000390559	IG_C_gene		T:0	Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,PROSITE_profiles:PS50835		T	T:0	T		522/1461				Q86TT1_HUMAN	T:0.0014	T:0	YES	IGHM,synonymous_variant,p.=,ENST00000390559,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.1,downstream_gene_variant,,ENST00000581354,;AL122127.4,downstream_gene_variant,,ENST00000581720,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;AL122127.3,downstream_gene_variant,,ENST00000580379,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.2,downstream_gene_variant,,ENST00000581918,;AL122127.5,downstream_gene_variant,,ENST00000582202,;		T:0.0002					LOW	522/1362				T:0	Transcript			.	ENSP00000375001	8.26E-06			T:0	1	
AMBRA1	0	LGGM	GRCh37	11	46529847	46529847	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	13	12	.	.	ENST00000314845.3:c.1963T>G	p.Ser655Ala	p.S655A	ENST00000314845	NM_017749.3	655	Tcc/Gcc	0	1		UPI0001627788	0	NA	ENST00000458649		ENSG00000110497	25990		25	0.975		HGNC	p.S655A		AMBRA1		SNV							ENST00000314845	protein_coding	getma.org/?cm=var&var=hg19,11,46529847,A,C&fts=all		hmmpanther:PTHR22874:SF1,hmmpanther:PTHR22874		S/A		C	low	2652/5351		getma.org/?cm=msa&ty=f&p=AMRA1_HUMAN&rb=212&re=833&var=S745A	deleterious_low_confidence(0)	E9PL55_HUMAN				AMBRA1,missense_variant,p.Ser745Ala,ENST00000458649,;AMBRA1,missense_variant,p.Ser716Ala,ENST00000426438,;AMBRA1,missense_variant,p.Ser655Ala,ENST00000314845,NM_017749.3;AMBRA1,missense_variant,p.Ser626Ala,ENST00000533727,NM_001267783.1;AMBRA1,missense_variant,p.Ser716Ala,ENST00000528950,;AMBRA1,intron_variant,,ENST00000298834,;AMBRA1,intron_variant,,ENST00000534300,NM_001267782.1;AMBRA1,non_coding_transcript_exon_variant,,ENST00000529558,;							MODERATE	2233/3897	S745A	AMRA1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000415327					1	
RALGAPA1	0	LGGM	GRCh37	14	36104802	36104802	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	26	12	.	.	ENST00000307138.6:c.4161G>C	p.Leu1387Phe	p.L1387F	ENST00000307138	NM_194301.2	1387	ttG/ttC	0	1		UPI00003B5C50	0	NA	ENST00000389698		ENSG00000174373	17770		38	1.075		HGNC	p.L1400F		RALGAPA1		SNV							ENST00000382366	protein_coding	getma.org/?cm=var&var=hg19,14,36104802,C,G&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		L/F		G	low	4552/7864		getma.org/?cm=msa&ty=f&p=RGPA1_HUMAN&rb=1201&re=1400&var=L1387F	tolerated(0.37)	Q9H984_HUMAN				RALGAPA1,missense_variant,p.Leu1434Phe,ENST00000258840,NM_001283044.1;RALGAPA1,missense_variant,p.Leu1387Phe,ENST00000307138,NM_194301.2;RALGAPA1,missense_variant,p.Leu1387Phe,ENST00000389698,NM_014990.1;RALGAPA1,missense_variant,p.Leu1400Phe,ENST00000382366,NM_001283043.1;RALGAPA1,missense_variant,p.Leu1434Phe,ENST00000553892,;RALGAPA1,missense_variant,p.Leu25Phe,ENST00000554259,;							MODERATE	4161/6111	L1387F	RGPA1_HUMAN			Transcript		benign(0.201)	.	ENSP00000374348		CCDS32065.1			1	
UGGT1	0	LGGM	GRCh37	2	128903506	128903506	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	54	12	.	.	ENST00000259253.6:c.1981G>T	p.Glu661Ter	p.E661*	ENST00000259253	NM_020120.3	661	Gag/Tag	0	1	1	UPI00000707D8	0	NA	ENST00000259253		ENSG00000136731	15663		66	0		HGNC	p.E637X		UGGT1		SNV							ENST00000375990	protein_coding	getma.org/?cm=var&var=hg19,2,128903506,G,T&fts=all		hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF3		E/*		T	NA	2028/10650		NA					YES	UGGT1,stop_gained,p.Glu637Ter,ENST00000375990,;UGGT1,stop_gained,p.Glu661Ter,ENST00000259253,NM_020120.3;UGGT1,3_prime_UTR_variant,,ENST00000376723,;UGGT1,3_prime_UTR_variant,,ENST00000438277,;UGGT1,non_coding_transcript_exon_variant,,ENST00000488439,;							HIGH	1981/4668	E661*	UGGG1_HUMAN			Transcript			.	ENSP00000259253		CCDS2154.1			1	
STAP2	0	LGGM	GRCh37	19	4333976	4333976	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	10	12	.	.	ENST00000600324.1:c.168C>A	p.Asp56Glu	p.D56E	ENST00000600324	NM_017720.2	56	gaC/gaA	0	1		UPI00002030E3	0	getma.org/pdb.php?prot=STAP2_HUMAN&from=18&to=130&var=D56E	ENST00000594605		ENSG00000178078	30430		22	2.28		HGNC	p.D56E		STAP2		SNV							ENST00000594605	protein_coding	getma.org/?cm=var&var=hg19,19,4333976,G,T&fts=all		Gene3D:2.30.29.30,hmmpanther:PTHR16186,hmmpanther:PTHR16186:SF2,Superfamily_domains:SSF50729		D/E		T	medium	292/1426		getma.org/?cm=msa&ty=f&p=STAP2_HUMAN&rb=18&re=130&var=D56E	deleterious(0.04)					STAP2,missense_variant,p.Asp56Glu,ENST00000600324,NM_017720.2;STAP2,missense_variant,p.Asp56Glu,ENST00000594605,NM_001013841.1;STAP2,missense_variant,p.Asp56Glu,ENST00000601482,;STAP2,missense_variant,p.Thr73Asn,ENST00000599736,;STAP2,upstream_gene_variant,,ENST00000601179,;							MODERATE	168/1212	D56E	STAP2_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000471052		CCDS45926.1			1	
BCL11A	0	LGGM	GRCh37	2	60688110	60688110	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	6	13	.	.	ENST00000335712.6:c.1937C>T	p.Pro646Leu	p.P646L	ENST00000335712	NM_022893.3	646	cCg/cTg	0	1	1	UPI000013DC00	0	NA	ENST00000335712		ENSG00000119866	13221	0.000175	19	0.895		HGNC	p.P612L	rs770749600,COSM1283644,COSM1283645	BCL11A		SNV			1			0,1,1	ENST00000538214	protein_coding	getma.org/?cm=var&var=hg19,2,60688110,G,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43		P/L		A	low	2165/5942		getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=617&re=755&var=P646L	deleterious(0.01)	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN			YES	BCL11A,missense_variant,p.Pro646Leu,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Pro646Leu,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Pro612Leu,ENST00000358510,;BCL11A,missense_variant,p.Pro612Leu,ENST00000538214,;BCL11A,missense_variant,p.Pro315Leu,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,;					0,1,1		MODERATE	1937/2508	P646L	BC11A_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000338774	1.65E-05	CCDS1862.1			1	
ARL16	0	LGGM	GRCh37	17	79649144	79649144	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	14	13	.	.	ENST00000397498.4:c.342T>A	p.Ser114=	p.S114=	ENST00000397498	NM_001040025.1	114	tcT/tcA	0	1	1	UPI000041AA0B	0		ENST00000397498		ENSG00000214087	27902		27			HGNC	p.S28S		ARL16		SNV							ENST00000570561	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00178,SMART_domains:SM00177,Gene3D:3.40.50.300,Pfam_domain:PF00025,hmmpanther:PTHR11711:SF140,hmmpanther:PTHR11711,PROSITE_profiles:PS51417		S		T		441/1227				I3L4Z7_HUMAN,I3L196_HUMAN,B4E3H0_HUMAN			YES	ARL16,synonymous_variant,p.=,ENST00000397498,NM_001040025.1;ARL16,synonymous_variant,p.=,ENST00000573392,;ARL16,synonymous_variant,p.=,ENST00000570561,;ARL16,synonymous_variant,p.=,ENST00000574938,;ARL16,synonymous_variant,p.=,ENST00000576135,;HGS,upstream_gene_variant,,ENST00000329138,NM_004712.4;HGS,upstream_gene_variant,,ENST00000572392,;HGS,upstream_gene_variant,,ENST00000577012,;HGS,upstream_gene_variant,,ENST00000571518,;ARL16,3_prime_UTR_variant,,ENST00000573715,;ARL16,3_prime_UTR_variant,,ENST00000576914,;ARL16,non_coding_transcript_exon_variant,,ENST00000577142,;ARL16,non_coding_transcript_exon_variant,,ENST00000570910,;ARL16,non_coding_transcript_exon_variant,,ENST00000571082,;ARL16,non_coding_transcript_exon_variant,,ENST00000573569,;HGS,upstream_gene_variant,,ENST00000576498,;HGS,upstream_gene_variant,,ENST00000576393,;ARL16,downstream_gene_variant,,ENST00000572704,;HGS,upstream_gene_variant,,ENST00000576087,;ARL16,downstream_gene_variant,,ENST00000572937,;							LOW	342/594		ARL16_HUMAN			Transcript			.	ENSP00000380635		CCDS45813.1			1	
ADGB	0	LGGM	GRCh37	6	147038688	147038688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	0	13	.	.	ENST00000397944.3:c.1945C>A	p.His649Asn	p.H649N	ENST00000397944	NM_024694.3	649	Cac/Aac	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		13	2.25		HGNC	p.H649N		ADGB		SNV							ENST00000397944	protein_coding	getma.org/?cm=var&var=hg19,6,147038688,C,A&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,SMART_domains:SM00230		H/N		A	medium	2021/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=601&re=800&var=H649N	deleterious(0)				YES	ADGB,missense_variant,p.His649Asn,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.His68Asn,ENST00000367493,;ADGB,missense_variant,p.His69Asn,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;							MODERATE	1945/5004	H649N	ADGB_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000381036					1	
GLB1	0	LGGM	GRCh37	3	33038672	33038672	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	51	13	.	.	ENST00000307363.5:c.1899A>G	p.Leu633=	p.L633=	ENST00000307363	NM_000404.2	633	ctA/ctG	0	1	1	UPI0000E5A543	0		ENST00000307363		ENSG00000170266	4298		64			HGNC	p.L502L	rs766181021	GLB1		SNV			1				ENST00000307377	protein_coding			Gene3D:2.60.120.260,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF61,Superfamily_domains:SSF49785		L		C		2044/2616				C9JF15_HUMAN,C9J539_HUMAN			YES	GLB1,synonymous_variant,p.=,ENST00000307363,NM_000404.2;GLB1,synonymous_variant,p.=,ENST00000445488,;GLB1,synonymous_variant,p.=,ENST00000399402,NM_001079811.1;GLB1,synonymous_variant,p.=,ENST00000307377,NM_001135602.1;	0.000116						LOW	1899/2034		BGAL_HUMAN			Transcript			.	ENSP00000306920	8.26E-06	CCDS43061.1			1	
POM121L2	0	LGGM	GRCh37	6	27277455	27277455	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	16	14	.	.	ENST00000444565.1:c.2495C>A	p.Thr832Lys	p.T832K	ENST00000444565	NM_033482.3	832	aCa/aAa	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		30	0		HGNC	p.T768K		POM121L2		SNV							ENST00000377451	protein_coding	getma.org/?cm=var&var=hg19,6,27277455,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		T/K		T	neutral	2495/3108		getma.org/?cm=msa&ty=f&p=P12L2_HUMAN&rb=1&re=969&var=T768K	tolerated(0.88)	C9J1I7_HUMAN			YES	POM121L2,missense_variant,p.Thr832Lys,ENST00000444565,NM_033482.3;POM121L2,missense_variant,p.Thr768Lys,ENST00000377451,;POM121L2,intron_variant,,ENST00000429945,;							MODERATE	2495/3108	T768K				Transcript		benign(0.402)	.	ENSP00000392726		CCDS59497.1			1	
KRT19	0	LGGM	GRCh37	17	39680141	39680141	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	22	14	.	.	ENST00000361566.3:c.1057C>T	p.Arg353Ter	p.R353*	ENST00000361566	NM_002276.4	353	Cga/Tga	0	1	1	UPI000006D379	0	NA	ENST00000361566		ENSG00000171345	6436		36	0		HGNC	p.R353X		KRT19		SNV							ENST00000361566	protein_coding	getma.org/?cm=var&var=hg19,17,39680141,G,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF107,Gene3D:1.20.5.170,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01248		R/*		A	NA	1118/1390		NA		K7EMS3_HUMAN			YES	KRT19,stop_gained,p.Arg353Ter,ENST00000361566,NM_002276.4;KRT19,stop_gained,p.Arg177Ter,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,;KRT15,upstream_gene_variant,,ENST00000474031,;KRT15,upstream_gene_variant,,ENST00000497016,;KRT15,upstream_gene_variant,,ENST00000463447,;KRT15,upstream_gene_variant,,ENST00000470004,;KRT19,downstream_gene_variant,,ENST00000471565,;KRT19,downstream_gene_variant,,ENST00000462611,;KRT19,downstream_gene_variant,,ENST00000479031,;							HIGH	1057/1203	R353*	K1C19_HUMAN			Transcript			.	ENSP00000355124		CCDS11399.1			1	
TAMM41	0	LGGM	GRCh37	3	11885677	11885677	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	23	14	.	.	ENST00000273037.5:c.144G>A	p.Met48Ile	p.M48I	ENST00000273037	NM_138807.2	48	atG/atA	0	1		UPI00017A731F	0	NA	ENST00000444133		ENSG00000144559	25187		37	3.11		HGNC	p.M48I		TAMM41		SNV							ENST00000444133	protein_coding	getma.org/?cm=var&var=hg19,3,11885677,C,T&fts=all		Pfam_domain:PF09139,hmmpanther:PTHR13619:SF0,hmmpanther:PTHR13619		M/I		T	medium	287/1619		getma.org/?cm=msa&ty=f&p=TAM41_HUMAN&rb=1&re=200&var=M48I	deleterious(0.03)	B4DIY7_HUMAN				TAMM41,missense_variant,p.Met48Ile,ENST00000444133,;TAMM41,missense_variant,p.Met48Ile,ENST00000273037,NM_138807.2;TAMM41,missense_variant,p.Met48Ile,ENST00000455809,NM_001284401.1;TAMM41,missense_variant,p.Met48Ile,ENST00000457498,;TAMM41,missense_variant,p.Met48Ile,ENST00000411947,;TAMM41,3_prime_UTR_variant,,ENST00000417723,;TAMM41,non_coding_transcript_exon_variant,,ENST00000494388,;							MODERATE	144/1359	M48I				Transcript		probably_damaging(0.954)	.	ENSP00000388598					1	
CLLU1	0	LGGM	GRCh37	12	92818469	92818469	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	1	15	.	.	ENST00000378485.1:c.13T>C	p.Cys5Arg	p.C5R	ENST00000378485	NM_001025233.1	5	Tgc/Cgc	0	1	1	UPI00004A1179	0	NA	ENST00000378485		ENSG00000257127	29841		16	0		HGNC	p.C5R		CLLU1		SNV							ENST00000378485	protein_coding	getma.org/?cm=var&var=hg19,12,92818469,T,C&fts=all				C/R		C	neutral	735/3897		getma.org/?cm=msa&ty=f&p=CLLU1_HUMAN&rb=1&re=121&var=C5R					YES	CLLU1,missense_variant,p.Cys5Arg,ENST00000378485,NM_001025233.1;CLLU1OS,intron_variant,,ENST00000378487,NM_001025232.1;CLLU1OS,intron_variant,,ENST00000538965,;RP11-693J15.4,intron_variant,,ENST00000508671,;CLLU1,intron_variant,,ENST00000472839,;CLLU1,intron_variant,,ENST00000512817,;CLLU1,non_coding_transcript_exon_variant,,ENST00000586526,;CLLU1,downstream_gene_variant,,ENST00000589406,;							MODERATE	13/366	C5R	CLLU1_HUMAN			Transcript		possibly_damaging(0.598)	.	ENSP00000367746					1	
PEX26	0	LGGM	GRCh37	22	18566309	18566309	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	49	15	.	.	ENST00000329627.7:c.478G>T	p.Ala160Ser	p.A160S	ENST00000329627	NM_017929.5	160	Gca/Tca	0	1	1	UPI000000DBD1	0	NA	ENST00000329627		ENSG00000215193	22965		64	2.295		HGNC	p.A160S		PEX26		SNV			1				ENST00000428061	protein_coding	getma.org/?cm=var&var=hg19,22,18566309,G,T&fts=all		Pfam_domain:PF07163,hmmpanther:PTHR16262,hmmpanther:PTHR16262:SF1		A/S		T	medium	684/18445		getma.org/?cm=msa&ty=f&p=PEX26_HUMAN&rb=1&re=305&var=A160S	deleterious(0.01)				YES	PEX26,missense_variant,p.Ala160Ser,ENST00000329627,NM_017929.5;PEX26,missense_variant,p.Ala160Ser,ENST00000399744,NM_001127649.2;PEX26,missense_variant,p.Ala160Ser,ENST00000428061,NM_001199319.1;XXbac-B476C20.9,upstream_gene_variant,,ENST00000607927,;PEX26,intron_variant,,ENST00000474897,;XXbac-B476C20.11,upstream_gene_variant,,ENST00000427227,;							MODERATE	478/918	A160S	PEX26_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000331106		CCDS13750.1			1	
GRIA2	0	LGGM	GRCh37	4	158281216	158281216	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	12	15	.	.	ENST00000296526.7:c.2212C>A	p.Pro738Thr	p.P738T	ENST00000296526	NM_000826.3	738	Cct/Act	0	1		UPI000012B7C2	0	getma.org/pdb.php?prot=GRIA2_HUMAN&from=543&to=824&var=P738T	ENST00000264426		ENSG00000120251	4572		27	3.245		HGNC	p.P691T		GRIA2		SNV							ENST00000323661	protein_coding	getma.org/?cm=var&var=hg19,4,158281216,C,A&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850		P/T		A	medium	2491/3445		getma.org/?cm=msa&ty=f&p=GRIA2_HUMAN&rb=543&re=824&var=P738T	deleterious(0)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				GRIA2,missense_variant,p.Pro738Thr,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Pro691Thr,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Pro691Thr,ENST00000449365,;GRIA2,missense_variant,p.Pro738Thr,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Pro691Thr,ENST00000507898,;GRIA2,missense_variant,p.Pro69Thr,ENST00000510854,;AC079233.1,upstream_gene_variant,,ENST00000578227,;GRIA2,missense_variant,p.Pro691Thr,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;GRIA2,upstream_gene_variant,,ENST00000503980,;							MODERATE	2212/2652	P738T	GRIA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264426		CCDS43274.1			1	
PDCL2	0	LGGM	GRCh37	4	56435986	56435986	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	26	15	.	.	ENST00000295645.4:c.261A>T	p.Gln87His	p.Q87H	ENST00000295645	NM_152401.2	87	caA/caT	0	1	1	UPI000020B8D5	0	getma.org/pdb.php?prot=PDCL2_HUMAN&from=8&to=235&var=Q87H	ENST00000295645		ENSG00000163440	29524		41	1.67		HGNC	p.Q87H		PDCL2		SNV							ENST00000295645	protein_coding	getma.org/?cm=var&var=hg19,4,56435986,T,A&fts=all		hmmpanther:PTHR21148:SF18,hmmpanther:PTHR21148,Gene3D:3.40.30.10,Pfam_domain:PF02114,Superfamily_domains:SSF52833		Q/H		A	low	364/861		getma.org/?cm=msa&ty=f&p=PDCL2_HUMAN&rb=8&re=235&var=Q87H	tolerated(0.07)				YES	PDCL2,missense_variant,p.Gln87His,ENST00000295645,NM_152401.2;							MODERATE	261/726	Q87H	PDCL2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000295645		CCDS47059.1			1	
FAT3	0	LGGM	GRCh37	11	92568180	92568180	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	23	15	.	.	ENST00000298047.6:c.10016C>T	p.Pro3339Leu	p.P3339L	ENST00000298047		3339	cCc/cTc	0	1	1	UPI000050B6C6	0	getma.org/pdb.php?prot=FAT3_HUMAN&from=3237&to=3341&var=P3339L	ENST00000298047		ENSG00000165323	23112		38	4.055		HGNC	p.P3339L		FAT3		SNV							ENST00000298047	protein_coding	getma.org/?cm=var&var=hg19,11,92568180,C,T&fts=all		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/L		T	high	10033/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=3237&re=3341&var=P3339L		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Pro3339Leu,ENST00000298047,;FAT3,missense_variant,p.Pro3339Leu,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Pro3189Leu,ENST00000525166,;							MODERATE	10016/13770	P3339L	FAT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000298047					1	
DNMT3B	0	LGGM	GRCh37	20	31380474	31380474	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	20	16	.	.	ENST00000328111.2:c.964G>A	p.Gly322Arg	p.G322R	ENST00000328111	NM_006892.3	322	Gga/Aga	0	1	1	UPI0000001046	0	getma.org/pdb.php?prot=DNM3B_HUMAN&from=296&to=495&var=G322R	ENST00000328111		ENSG00000088305	2979		36	2.045		HGNC	p.G334R		DNMT3B		SNV			1				ENST00000201963	protein_coding	getma.org/?cm=var&var=hg19,20,31380474,G,A&fts=all		hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068,Gene3D:1khcA02,Superfamily_domains:SSF63748		G/R		A	medium	1285/4336		getma.org/?cm=msa&ty=f&p=DNM3B_HUMAN&rb=296&re=495&var=G322R	tolerated(0.18)				YES	DNMT3B,missense_variant,p.Gly322Arg,ENST00000328111,NM_006892.3;DNMT3B,missense_variant,p.Gly334Arg,ENST00000201963,NM_175850.2;DNMT3B,missense_variant,p.Gly322Arg,ENST00000353855,NM_175848.1;DNMT3B,missense_variant,p.Gly322Arg,ENST00000348286,NM_175849.1,NM_001207055.1;DNMT3B,missense_variant,p.Gly322Arg,ENST00000344505,;DNMT3B,missense_variant,p.Gly280Arg,ENST00000443239,;DNMT3B,missense_variant,p.Gly246Arg,ENST00000456297,NM_001207056.1;DNMT3B,intron_variant,,ENST00000375623,;							MODERATE	964/2562	G322R	DNM3B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000328547		CCDS13205.1			1	
RIOK3	0	LGGM	GRCh37	18	21061187	21061187	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	20	16	.	.	ENST00000339486.3:c.1504A>T	p.Lys502Ter	p.K502*	ENST00000339486	NM_003831.3	502	Aaa/Taa	0	1	1	UPI000013C732	0	NA	ENST00000339486		ENSG00000101782	11451		36	0		HGNC	p.K499X		RIOK3		SNV							ENST00000577501	protein_coding	getma.org/?cm=var&var=hg19,18,21061187,A,T&fts=all		hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF22,PIRSF_domain:PIRSF038146		K/*		T	NA	2121/4038		NA		B0YJ89_HUMAN			YES	RIOK3,stop_gained,p.Lys502Ter,ENST00000339486,NM_003831.3;RIOK3,stop_gained,p.Lys486Ter,ENST00000581585,;RIOK3,stop_gained,p.Lys499Ter,ENST00000577501,;RIOK3,intron_variant,,ENST00000577250,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581220,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581339,;RIOK3,downstream_gene_variant,,ENST00000584130,;							HIGH	1504/1560	K502*	RIOK3_HUMAN			Transcript			.	ENSP00000341874		CCDS11877.1			1	
CYP2A7	0	LGGM	GRCh37	19	41386065	41386065	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	32	16	.	.	ENST00000301146.4:c.578A>G	p.Tyr193Cys	p.Y193C	ENST00000301146	NM_000764.2	193	tAt/tGt	0	1	1	UPI000013E6D5	0	getma.org/pdb.php?prot=CP2A7_HUMAN&from=34&to=491&var=Y193C	ENST00000301146		ENSG00000198077	2611		48	2.955		HGNC	p.Y193C		CYP2A7		SNV							ENST00000301146	protein_coding	getma.org/?cm=var&var=hg19,19,41386065,T,C&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463		Y/C		C	medium	1120/2281		getma.org/?cm=msa&ty=f&p=CP2A7_HUMAN&rb=34&re=491&var=Y193C	deleterious(0.01)				YES	CYP2A7,missense_variant,p.Tyr193Cys,ENST00000301146,NM_000764.2;CYP2A7,missense_variant,p.Tyr142Cys,ENST00000291764,NM_030589.2;CYP2A7,3_prime_UTR_variant,,ENST00000594332,;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,upstream_gene_variant,,ENST00000598264,;CYP2A7,upstream_gene_variant,,ENST00000602008,;							MODERATE	578/1485	Y193C	CP2A7_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000301146		CCDS12569.1			1	
RHOBTB2	0	LGGM	GRCh37	8	22865540	22865540	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	2	17	.	.	ENST00000519685.1:c.1602C>T	p.Ser534=	p.S534=	ENST00000519685	NM_001160036.1	534	agC/agT	0	1		UPI000013342C	0		ENST00000251822		ENSG00000008853	18756		19			HGNC	p.S519S	rs371059598,COSM3432277	RHOBTB2		SNV	T:0					0,1	ENST00000522948	protein_coding			Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,PROSITE_profiles:PS50097		S	T:0.0001	T		2073/5451	0.000105							RHOBTB2,synonymous_variant,p.=,ENST00000251822,NM_015178.2;RHOBTB2,synonymous_variant,p.=,ENST00000522948,NM_001160037.1;RHOBTB2,synonymous_variant,p.=,ENST00000519685,NM_001160036.1;RHOBTB2,downstream_gene_variant,,ENST00000524077,;RP11-875O11.1,non_coding_transcript_exon_variant,,ENST00000502083,;RP11-875O11.1,upstream_gene_variant,,ENST00000523884,;RHOBTB2,downstream_gene_variant,,ENST00000523918,;RHOBTB2,non_coding_transcript_exon_variant,,ENST00000519210,;RHOBTB2,downstream_gene_variant,,ENST00000517528,;					0,1		LOW	1536/2184		RHBT2_HUMAN			Transcript			.	ENSP00000251822	5.77E-05	CCDS6034.1			1	
CDK12	0	LGGM	GRCh37	17	37618809	37618809	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	60	18	.	.	ENST00000447079.4:c.485G>C	p.Gly162Ala	p.G162A	ENST00000447079	NM_015083.1	162	gGg/gCg	0	1	1	UPI000013E688	0	NA	ENST00000447079		ENSG00000167258	24224		78	0.69		HGNC	p.G162A		CDK12		SNV							ENST00000430627	protein_coding	getma.org/?cm=var&var=hg19,17,37618809,G,C&fts=all				G/A		C	neutral	518/8336		getma.org/?cm=msa&ty=f&p=CDK12_HUMAN&rb=66&re=341&var=G162A					YES	CDK12,missense_variant,p.Gly162Ala,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,missense_variant,p.Gly162Ala,ENST00000430627,;CDK12,missense_variant,p.Gly162Ala,ENST00000584632,;							MODERATE	485/4473	G162A	CDK12_HUMAN			Transcript		unknown(0)	.	ENSP00000398880		CCDS11337.1			1	
CLK1	0	LGGM	GRCh37	2	201718121	201718121	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	38	18	.	.	ENST00000434813.2:c.1489C>T	p.Gln497Ter	p.Q497*	ENST00000434813	NM_001162407.1	497	Cag/Tag	0	1		UPI000006FE56	0	NA	ENST00000321356		ENSG00000013441	2068		56	0		HGNC	p.Q497X		CLK1		SNV							ENST00000434813	protein_coding	getma.org/?cm=var&var=hg19,2,201718121,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF2,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/*		A	NA	1499/1888		NA						CLK1,stop_gained,p.Gln497Ter,ENST00000434813,NM_001162407.1;CLK1,stop_gained,p.Gln455Ter,ENST00000321356,NM_004071.3;CLK1,stop_gained,p.Gln278Ter,ENST00000409769,;RNA5SP115,upstream_gene_variant,,ENST00000411160,;CLK1,3_prime_UTR_variant,,ENST00000432425,;CLK1,3_prime_UTR_variant,,ENST00000409403,;CLK1,non_coding_transcript_exon_variant,,ENST00000473565,;CLK1,non_coding_transcript_exon_variant,,ENST00000461981,;CLK1,non_coding_transcript_exon_variant,,ENST00000464454,;CLK1,non_coding_transcript_exon_variant,,ENST00000496205,;CLK1,non_coding_transcript_exon_variant,,ENST00000472679,;CLK1,non_coding_transcript_exon_variant,,ENST00000461326,;							HIGH	1363/1455	Q455*	CLK1_HUMAN			Transcript			.	ENSP00000326830		CCDS2331.1			1	
NPTN	0	LGGM	GRCh37	15	73866036	73866036	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	19	18	.	.	ENST00000345330.4:c.807G>T	p.Trp269Cys	p.W269C	ENST00000345330	NM_012428.3	269	tgG/tgT	0	1	1	UPI0000072D5C	0	getma.org/pdb.php?prot=NPTN_HUMAN&from=238&to=333&var=W269C	ENST00000345330		ENSG00000156642	17867		37	1.955		HGNC	p.W269C		NPTN		SNV							ENST00000345330	protein_coding	getma.org/?cm=var&var=hg19,15,73866036,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF5,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		W/C		A	medium	1005/2444		getma.org/?cm=msa&ty=f&p=NPTN_HUMAN&rb=238&re=333&var=W269C	deleterious(0)	Q9UFM8_HUMAN,H3BQ94_HUMAN			YES	NPTN,missense_variant,p.Trp153Cys,ENST00000351217,NM_001161364.1,NM_017455.3;NPTN,missense_variant,p.Trp269Cys,ENST00000345330,NM_012428.3,NM_001161363.1;NPTN,missense_variant,p.Trp269Cys,ENST00000545878,;NPTN,missense_variant,p.Trp232Cys,ENST00000565282,;NPTN,missense_variant,p.Trp269Cys,ENST00000563691,;NPTN,missense_variant,p.Trp269Cys,ENST00000287226,;NPTN,missense_variant,p.Trp153Cys,ENST00000562924,;NPTN,missense_variant,p.Trp64Cys,ENST00000542234,;NPTN,missense_variant,p.Trp64Cys,ENST00000565325,;NPTN,non_coding_transcript_exon_variant,,ENST00000564551,;							MODERATE	807/1197	W269C	NPTN_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000290401		CCDS10249.1			1	
HFM1	0	LGGM	GRCh37	1	91788752	91788752	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	33	18	.	.	ENST00000370425.3:c.2432C>A	p.Thr811Lys	p.T811K	ENST00000370425	NM_001017975.3	811	aCa/aAa	0	1	1	UPI0000F51F79	0	NA	ENST00000370425		ENSG00000162669	20193		51	1.23		HGNC	p.T490K		HFM1		SNV							ENST00000370424	protein_coding	getma.org/?cm=var&var=hg19,1,91788752,G,T&fts=all		Gene3D:2q0zX01,Pfam_domain:PF02889,hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF47,SMART_domains:SM00973,Superfamily_domains:SSF158702		T/K		T	low	2531/4931		getma.org/?cm=msa&ty=f&p=HFM1_HUMAN&rb=777&re=1092&var=T811K	tolerated(0.15)	D2KTB2_HUMAN,C9JQP7_HUMAN,B7ZM00_HUMAN,A6NGI5_HUMAN			YES	HFM1,missense_variant,p.Thr811Lys,ENST00000370425,NM_001017975.3;HFM1,missense_variant,p.Thr43Lys,ENST00000294696,;HFM1,missense_variant,p.Thr490Lys,ENST00000370424,;HFM1,missense_variant,p.Thr67Lys,ENST00000430465,;HFM1,non_coding_transcript_exon_variant,,ENST00000462405,;HFM1,intron_variant,,ENST00000497520,;							MODERATE	2432/4308	T811K	HFM1_HUMAN			Transcript		benign(0.033)	.	ENSP00000359454		CCDS30769.2			1	
RIOK2	0	LGGM	GRCh37	5	96504508	96504508	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	49	19	.	.	ENST00000283109.3:c.828T>C	p.Arg276=	p.R276=	ENST00000283109	NM_018343.2	276	cgT/cgC	0	1	1	UPI000013DD20	0		ENST00000283109		ENSG00000058729	18999		68			HGNC	p.R276R		RIOK2		SNV							ENST00000508447	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF01163,hmmpanther:PTHR10593,hmmpanther:PTHR10593:SF1,SMART_domains:SM00090		R		G		897/3922							YES	RIOK2,synonymous_variant,p.=,ENST00000283109,NM_018343.2;RIOK2,synonymous_variant,p.=,ENST00000508447,NM_001159749.1;CTD-2215E18.1,intron_variant,,ENST00000509481,;RIOK2,upstream_gene_variant,,ENST00000511293,;RIOK2,upstream_gene_variant,,ENST00000511012,;							LOW	828/1659		RIOK2_HUMAN			Transcript			.	ENSP00000283109		CCDS4089.1			1	
SYT9	0	LGGM	GRCh37	11	7439331	7439331	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	22	19	.	.	ENST00000318881.6:c.1309T>G	p.Leu437Val	p.L437V	ENST00000318881	NM_175733.3	437	Ttg/Gtg	0	1	1	UPI000000DB7B	0	getma.org/pdb.php?prot=SYT9_HUMAN&from=369&to=457&var=L437V	ENST00000318881		ENSG00000170743	19265		41	1.975		HGNC	p.L437V		SYT9		SNV							ENST00000318881	protein_coding	getma.org/?cm=var&var=hg19,11,7439331,T,G&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF174,PROSITE_profiles:PS50004		L/V		G	medium	1546/3955		getma.org/?cm=msa&ty=f&p=SYT9_HUMAN&rb=369&re=457&var=L437V	deleterious(0.02)				YES	SYT9,missense_variant,p.Leu437Val,ENST00000318881,NM_175733.3;SYT9,3_prime_UTR_variant,,ENST00000532592,;SYT9,3_prime_UTR_variant,,ENST00000524820,;							MODERATE	1309/1476	L437V	SYT9_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000324419		CCDS7778.1			1	
ZNF417	0	LGGM	GRCh37	19	58420673	58420673	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	87	20	.	.	ENST00000312026.5:c.973G>A	p.Glu325Lys	p.E325K	ENST00000312026	NM_152475.2	325	Gag/Aag	0	1	1	UPI000013F249	0	getma.org/pdb.php?prot=ZN417_HUMAN&from=310&to=335&var=E325K	ENST00000312026		ENSG00000173480	20646		107	-1		HGNC	p.E126K		ZNF417		SNV							ENST00000536263	protein_coding	getma.org/?cm=var&var=hg19,19,58420673,C,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_profiles:PS50157		E/K		T	neutral	1138/3597		getma.org/?cm=msa&ty=f&p=ZN417_HUMAN&rb=290&re=355&var=E325K	tolerated(0.1)	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN,B4DEU1_HUMAN			YES	ZNF417,missense_variant,p.Glu325Lys,ENST00000312026,NM_152475.2;ZNF417,missense_variant,p.Glu126Lys,ENST00000536263,;ZNF417,missense_variant,p.Glu324Lys,ENST00000595559,;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000598526,;ZNF417,downstream_gene_variant,,ENST00000597515,;ZNF417,downstream_gene_variant,,ENST00000599251,;ZNF417,downstream_gene_variant,,ENST00000598629,;CTD-2583A14.9,intron_variant,,ENST00000602124,;							MODERATE	973/1728	E325K	ZN417_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000311319		CCDS12965.1			1	
FN1	0	LGGM	GRCh37	2	216251419	216251419	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	16	20	.	.	ENST00000354785.4:c.4605A>G	p.Gln1535=	p.Q1535=	ENST00000354785		1535	caA/caG	0	1		UPI00001AEBF3	0		ENST00000359671		ENSG00000115414	3778		36			HGNC	p.Q1444Q		FN1		SNV			1				ENST00000446046	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF187		Q		C		4598/8524				Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,synonymous_variant,p.=,ENST00000354785,;FN1,synonymous_variant,p.=,ENST00000323926,NM_212482.1;FN1,synonymous_variant,p.=,ENST00000359671,;FN1,synonymous_variant,p.=,ENST00000336916,NM_212478.1,NM_002026.2;FN1,synonymous_variant,p.=,ENST00000421182,;FN1,synonymous_variant,p.=,ENST00000357009,;FN1,synonymous_variant,p.=,ENST00000346544,;FN1,synonymous_variant,p.=,ENST00000446046,;FN1,synonymous_variant,p.=,ENST00000345488,;FN1,synonymous_variant,p.=,ENST00000357867,NM_212474.1;FN1,synonymous_variant,p.=,ENST00000356005,NM_212476.1;FN1,synonymous_variant,p.=,ENST00000443816,;FN1,synonymous_variant,p.=,ENST00000432072,;FN1,synonymous_variant,p.=,ENST00000456923,;FN1,upstream_gene_variant,,ENST00000490833,;FN1,non_coding_transcript_exon_variant,,ENST00000492816,;FN1,upstream_gene_variant,,ENST00000480737,;							LOW	4332/7161		FINC_HUMAN			Transcript			.	ENSP00000352696					1	
TRAF7	0	LGGM	GRCh37	16	2225623	2225623	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	13	21	.	.	ENST00000326181.6:c.1626G>T	p.Lys542Asn	p.K542N	ENST00000326181	NM_032271.2	542	aaG/aaT	0	1	1	UPI000014186F	0	NA	ENST00000326181		ENSG00000131653	20456		34	1.935		HGNC	p.K542N		TRAF7		SNV							ENST00000326181	protein_coding	getma.org/?cm=var&var=hg19,16,2225623,G,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22844:SF164,hmmpanther:PTHR22844,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		K/N		T	medium	1758/3700		getma.org/?cm=msa&ty=f&p=TRAF7_HUMAN&rb=510&re=545&var=K542N	deleterious(0.01)	H3BR17_HUMAN,D3DU86_HUMAN			YES	TRAF7,missense_variant,p.Lys542Asn,ENST00000326181,NM_032271.2;CASKIN1,downstream_gene_variant,,ENST00000343516,NM_020764.3;TRAF7,downstream_gene_variant,,ENST00000567645,;TRAF7,downstream_gene_variant,,ENST00000564067,;TRAF7,downstream_gene_variant,,ENST00000569686,;TRAF7,downstream_gene_variant,,ENST00000570169,;							MODERATE	1626/2013	K542N	TRAF7_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000318944		CCDS10461.1			1	
ZFP64	0	LGGM	GRCh37	20	50715004	50715004	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	29	22	.	.	ENST00000361387.2:c.886G>C	p.Glu296Gln	p.E296Q	ENST00000361387	NM_199427.2	296	Gag/Cag	0	1	1	UPI000013C56C	0	NA	ENST00000361387		ENSG00000020256	15940		51	0.83		HGNC	p.E77Q		ZFP64		SNV							ENST00000371523	protein_coding	getma.org/?cm=var&var=hg19,20,50715004,C,G&fts=all		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27		E/Q		G	low	947/2545		getma.org/?cm=msa&ty=f&p=ZF64B_HUMAN&rb=243&re=315&var=E296Q	tolerated(0.26)					ZFP64,missense_variant,p.Glu296Gln,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Glu77Gln,ENST00000371523,;ZFP64,missense_variant,p.Glu296Gln,ENST00000371518,;ZFP64,missense_variant,p.Glu99Gln,ENST00000395989,;ZFP64,missense_variant,p.Glu99Gln,ENST00000395979,;ZFP64,missense_variant,p.Glu2Gln,ENST00000456175,;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;ZFP64,non_coding_transcript_exon_variant,,ENST00000467811,;							MODERATE	886/1938	E296Q	ZF64B_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000355179		CCDS13439.1			1	
EPHA6	0	LGGM	GRCh37	3	97123997	97123997	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	28	22	.	.	ENST00000389672.5:c.1610C>T	p.Pro537Leu	p.P537L	ENST00000389672	NM_001080448.2	537	cCt/cTt	0	1	1	UPI000004BB12	0	getma.org/pdb.php?prot=EPHA6_HUMAN&from=441&to=526&var=P442L	ENST00000389672		ENSG00000080224	19296		50	2.72		HGNC	p.P537L	rs772449969	EPHA6	0.000106	SNV							ENST00000389672	protein_coding	getma.org/?cm=var&var=hg19,3,97123997,C,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/L		T	medium	1648/3971		getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=441&re=526&var=P442L	deleterious(0.01)	H0Y8K5_HUMAN			YES	EPHA6,missense_variant,p.Pro537Leu,ENST00000389672,NM_001080448.2;							MODERATE	1610/3393	P442L				Transcript		possibly_damaging(0.878)	.	ENSP00000374323	8.29E-06	CCDS46876.1			1	
TESPA1	0	LGGM	GRCh37	12	55356857	55356857	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	4	23	.	.	ENST00000449076.1:c.825A>G	p.Glu275=	p.E275=	ENST00000449076	NM_001136030.2	275	gaA/gaG	0	1		UPI00001FC438	0		ENST00000316577		ENSG00000135426	29109		27			HGNC	p.N202S		TESPA1		SNV							ENST00000528486	protein_coding			hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF1,Pfam_domain:PF14722		E		C		935/1898				E9PN46_HUMAN,E9PM24_HUMAN,E9PIT9_HUMAN,E9PIN8_HUMAN,E9PHY9_HUMAN,B4DHC1_HUMAN				TESPA1,synonymous_variant,p.=,ENST00000524622,NM_014796.2,NM_001261844.1;TESPA1,synonymous_variant,p.=,ENST00000449076,NM_001136030.2;TESPA1,synonymous_variant,p.=,ENST00000532804,;TESPA1,synonymous_variant,p.=,ENST00000316577,NM_001098815.2;TESPA1,synonymous_variant,p.=,ENST00000531122,;TESPA1,intron_variant,,ENST00000532757,;TESPA1,downstream_gene_variant,,ENST00000524668,;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,;							LOW	825/1566		TESP1_HUMAN			Transcript			.	ENSP00000312679		CCDS44913.1			1	
GREB1L	0	LGGM	GRCh37	18	19075745	19075745	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	36	25	.	.	ENST00000580732.2:c.3145A>C	p.Arg1049=	p.R1049=	ENST00000580732		1049	Agg/Cgg	0	1		UPI0001642876	0		ENST00000424526		ENSG00000141449	31042		61			HGNC	p.R940R		GREB1L		SNV							ENST00000269218	protein_coding			hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12		R		C		3416/6052								GREB1L,splice_region_variant,p.=,ENST00000580732,;GREB1L,splice_region_variant,p.=,ENST00000424526,NM_001142966.1;GREB1L,splice_region_variant,,ENST00000400483,;GREB1L,splice_region_variant,p.=,ENST00000269218,;GREB1L,splice_region_variant,,ENST00000578955,;							LOW	3145/5772		GRB1L_HUMAN			Transcript			.	ENSP00000412060		CCDS45836.1			1	
CLEC4M	0	LGGM	GRCh37	19	7833788	7833788	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	13	25	.	.	ENST00000327325.5:c.1114A>G	p.Ser372Gly	p.S372G	ENST00000327325	NM_001144909.1	372	Agt/Ggt	0	1	1	UPI0000073C48	0	getma.org/pdb.php?prot=CLC4M_HUMAN&from=285&to=391&var=S372G	ENST00000327325		ENSG00000104938	13523		38	1.105		HGNC	p.S360G		CLEC4M		SNV							ENST00000394122	protein_coding	getma.org/?cm=var&var=hg19,19,7833788,A,G&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_patterns:PS00615,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF200,SMART_domains:SM00034,Superfamily_domains:SSF56436		S/G		G	low	1232/1935		getma.org/?cm=msa&ty=f&p=CLC4M_HUMAN&rb=285&re=391&var=S372G	tolerated(0.2)				YES	CLEC4M,missense_variant,p.Ser372Gly,ENST00000327325,NM_001144909.1,NM_014257.4;CLEC4M,missense_variant,p.Ser360Gly,ENST00000394122,;CLEC4M,missense_variant,p.Ser350Gly,ENST00000248228,NM_001144910.1,NM_001144905.1;CLEC4M,missense_variant,p.Ser321Gly,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Ser305Gly,ENST00000359059,NM_001144906.1,NM_001144907.1;CLEC4M,missense_variant,p.Ser305Gly,ENST00000596707,;CLEC4M,missense_variant,p.Ser236Gly,ENST00000595496,;CLEC4M,3_prime_UTR_variant,,ENST00000357361,NM_001144908.1;CLEC4M,3_prime_UTR_variant,,ENST00000596363,NM_001144911.1;CLEC4M,3_prime_UTR_variant,,ENST00000597522,;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,;							MODERATE	1114/1200	S372G	CLC4M_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000316228		CCDS12187.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266134	41266136	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	by Submitter	H092773	H092773N.bam	CTT	CTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	36	25	.	.	ENST00000349496.5:c.133_135delTCT	p.Ser45del	p.S45del	ENST00000349496	NM_001904.3	44	cCTTct/cct	0	1	1	UPI000012862F	0		ENST00000349496		ENSG00000168036	2514		61			HGNC	p.44_45del	COSM33668	CTNNB1		deletion			1			1	ENST00000450969	protein_coding			hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		PS/P		-		411-413/3729				G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,inframe_deletion,p.Ser45del,ENST00000349496,NM_001904.3;CTNNB1,inframe_deletion,p.Ser45del,ENST00000396185,NM_001098209.1;CTNNB1,inframe_deletion,p.Ser45del,ENST00000396183,NM_001098210.1;CTNNB1,inframe_deletion,p.Ser38del,ENST00000453024,;CTNNB1,inframe_deletion,p.Ser45del,ENST00000405570,;CTNNB1,inframe_deletion,p.Ser45del,ENST00000450969,;CTNNB1,inframe_deletion,p.Ser45del,ENST00000431914,;CTNNB1,inframe_deletion,p.Ser45del,ENST00000441708,;CTNNB1,inframe_deletion,p.Ser38del,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	131-133/2346		CTNB1_HUMAN			Transcript	2		.	ENSP00000344456		CCDS2694.1			1	
FBXL7	0	LGGM	GRCh37	5	15936994	15936994	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	35	25	.	.	ENST00000504595.1:c.1175A>G	p.His392Arg	p.H392R	ENST00000504595	NM_012304.4	392	cAc/cGc	0	1	1	UPI00000724E0	0	NA	ENST00000504595		ENSG00000183580	13604		60	-0.085		HGNC	p.H345R		FBXL7		SNV							ENST00000510662	protein_coding	getma.org/?cm=var&var=hg19,5,15936994,A,G&fts=all		hmmpanther:PTHR23125:SF70,hmmpanther:PTHR23125,Pfam_domain:PF13516,Gene3D:3.80.10.10,SMART_domains:SM00367,Superfamily_domains:SSF52047		H/R		G	neutral	1656/4562		getma.org/?cm=msa&ty=f&p=FBXL7_HUMAN&rb=355&re=419&var=H392R	tolerated(0.5)	J3KNM9_HUMAN,D6RDY7_HUMAN			YES	FBXL7,missense_variant,p.His392Arg,ENST00000504595,NM_012304.4;FBXL7,missense_variant,p.His345Arg,ENST00000510662,NM_001278317.1;FBXL7,missense_variant,p.His380Arg,ENST00000329673,;MIR887,downstream_gene_variant,,ENST00000401258,;							MODERATE	1175/1476	H392R	FBXL7_HUMAN			Transcript		benign(0.008)	.	ENSP00000423630		CCDS54833.1			1	
DYRK1A	0	LGGM	GRCh37	21	38862521	38862521	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	20	26	.	.	ENST00000398960.2:c.709G>T	p.Val237Phe	p.V237F	ENST00000398960	NM_001396.3	237	Gtt/Ttt	0	1	1	UPI0000129A31	0	getma.org/pdb.php?prot=DYR1A_HUMAN&from=159&to=479&var=V237F	ENST00000398960		ENSG00000157540	3091		46	3.62		HGNC	p.V237F		DYRK1A		SNV			1				ENST00000338785	protein_coding	getma.org/?cm=var&var=hg19,21,38862521,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/F		T	high	784/2422		getma.org/?cm=msa&ty=f&p=DYR1A_HUMAN&rb=159&re=479&var=V237F	deleterious(0)	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN			YES	DYRK1A,missense_variant,p.Val228Phe,ENST00000339659,NM_130436.2;DYRK1A,missense_variant,p.Val237Phe,ENST00000338785,NM_101395.2;DYRK1A,missense_variant,p.Val237Phe,ENST00000451934,;DYRK1A,missense_variant,p.Val237Phe,ENST00000321219,;DYRK1A,missense_variant,p.Val237Phe,ENST00000398960,NM_001396.3,NM_130438.2;DYRK1A,missense_variant,p.Val9Phe,ENST00000455387,;DYRK1A,missense_variant,p.Val237Phe,ENST00000398956,;DYRK1A,downstream_gene_variant,,ENST00000462274,;							MODERATE	709/2292	V237F	DYR1A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381932		CCDS42925.1			1	
ZNF239	0	LGGM	GRCh37	10	44052826	44052826	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	51	26	.	.	ENST00000306006.6:c.702C>T	p.Pro234=	p.P234=	ENST00000306006	NM_005674.2	234	ccC/ccT	0	1	1	UPI000006DD0E	0		ENST00000306006		ENSG00000196793	13031		77			HGNC	p.P234P		ZNF239		SNV							ENST00000535642	protein_coding			Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377:SF114,hmmpanther:PTHR24377,PROSITE_profiles:PS50157		P		A		1355/2389							YES	ZNF239,synonymous_variant,p.=,ENST00000306006,NM_005674.2;ZNF239,synonymous_variant,p.=,ENST00000374446,NM_001099282.1;ZNF239,synonymous_variant,p.=,ENST00000426961,NM_001099284.1;ZNF239,synonymous_variant,p.=,ENST00000535642,NM_001099283.1;ZNF239,downstream_gene_variant,,ENST00000491188,;							LOW	702/1377		ZN239_HUMAN			Transcript			.	ENSP00000307774		CCDS41502.1			1	
TDP1	0	LGGM	GRCh37	14	90446894	90446894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	9	26	.	.	ENST00000335725.4:c.802C>A	p.Leu268Met	p.L268M	ENST00000335725	NM_018319.3	268	Ctg/Atg	0	1	1	UPI00000737ED	0	getma.org/pdb.php?prot=TYDP1_HUMAN&from=163&to=582&var=L268M	ENST00000335725		ENSG00000042088	18884		35	2.495		HGNC	p.A256D		TDP1		SNV			1				ENST00000555178	protein_coding	getma.org/?cm=var&var=hg19,14,90446894,C,A&fts=all		hmmpanther:PTHR12415:SF0,hmmpanther:PTHR12415,Pfam_domain:PF06087,Gene3D:3.30.870.10,Superfamily_domains:SSF56024		L/M		A	medium	1052/3696		getma.org/?cm=msa&ty=f&p=TYDP1_HUMAN&rb=163&re=582&var=L268M	deleterious(0.04)	G3V5F9_HUMAN,G3V5B8_HUMAN,G3V554_HUMAN,G3V3Q0_HUMAN,G3V2U6_HUMAN,G3V2J6_HUMAN,B3KN41_HUMAN			YES	TDP1,missense_variant,p.Leu268Met,ENST00000335725,NM_018319.3;TDP1,missense_variant,p.Leu268Met,ENST00000393452,;TDP1,missense_variant,p.Leu29Met,ENST00000357382,;TDP1,missense_variant,p.Leu268Met,ENST00000393454,NM_001008744.1;TDP1,missense_variant,p.Leu268Met,ENST00000555880,;TDP1,missense_variant,p.Leu268Met,ENST00000554180,;TDP1,missense_variant,p.Leu169Met,ENST00000553617,;TDP1,upstream_gene_variant,,ENST00000556063,;TDP1,non_coding_transcript_exon_variant,,ENST00000555565,;TDP1,missense_variant,p.Leu268Met,ENST00000545686,;TDP1,missense_variant,p.Ala256Asp,ENST00000555178,;TDP1,missense_variant,p.Leu16Met,ENST00000557782,;TDP1,3_prime_UTR_variant,,ENST00000554976,;							MODERATE	802/1827	L268M	TYDP1_HUMAN			Transcript		possibly_damaging(0.845)	.	ENSP00000337353		CCDS9888.1			1	
CAPNS1	0	LGGM	GRCh37	19	36633964	36633964	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	33	27	.	.	ENST00000246533.3:c.392-2A>T		p.X131_splice	ENST00000246533	NM_001749.2			0	1	1	UPI0000000E07	0		ENST00000246533		ENSG00000126247	1481		60			HGNC	-		CAPNS1		SNV							ENST00000246533	protein_coding							T		-/1918				U3KPR7_HUMAN,K7ES78_HUMAN,K7EM73_HUMAN			YES	CAPNS1,splice_acceptor_variant,,ENST00000246533,NM_001749.2,NM_001003962.1;CAPNS1,splice_acceptor_variant,,ENST00000587718,;CAPNS1,splice_acceptor_variant,,ENST00000588815,;CAPNS1,splice_acceptor_variant,,ENST00000588780,;CAPNS1,splice_acceptor_variant,,ENST00000590874,;CAPNS1,splice_acceptor_variant,,ENST00000591041,;CAPNS1,splice_acceptor_variant,,ENST00000592354,;CAPNS1,splice_acceptor_variant,,ENST00000586851,;CAPNS1,splice_acceptor_variant,,ENST00000586963,;CAPNS1,intron_variant,,ENST00000589146,;CAPNS1,intron_variant,,ENST00000590211,;CAPNS1,downstream_gene_variant,,ENST00000592483,;AD001527.7,downstream_gene_variant,,ENST00000604228,;CAPNS1,splice_acceptor_variant,,ENST00000590049,;CAPNS1,upstream_gene_variant,,ENST00000589162,;							HIGH	392/807		CPNS1_HUMAN			Transcript			.	ENSP00000246533		CCDS12489.1			1	
HTRA2	0	LGGM	GRCh37	2	74758136	74758136	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	84	27	.	.	ENST00000258080.3:c.810C>T	p.Ile270=	p.I270=	ENST00000258080	NM_013247.4	270	atC/atT	0	1	1	UPI000012CB84	0		ENST00000258080		ENSG00000115317	14348		111			HGNC	p.I257I		HTRA2		SNV			1				ENST00000437202	protein_coding			Prints_domain:PR00834,Superfamily_domains:SSF50494,Gene3D:2.40.10.10,Pfam_domain:PF13365,hmmpanther:PTHR22939:SF69,hmmpanther:PTHR22939		I		T		1440/2367							YES	HTRA2,synonymous_variant,p.=,ENST00000258080,NM_013247.4;HTRA2,synonymous_variant,p.=,ENST00000437202,;HTRA2,intron_variant,,ENST00000352222,NM_145074.2;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,;AUP1,upstream_gene_variant,,ENST00000377526,NM_181575.3;DQX1,upstream_gene_variant,,ENST00000451518,;LOXL3,downstream_gene_variant,,ENST00000420535,;HTRA2,non_coding_transcript_exon_variant,,ENST00000467961,;HTRA2,non_coding_transcript_exon_variant,,ENST00000462909,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484881,;LOXL3,downstream_gene_variant,,ENST00000481835,;DQX1,upstream_gene_variant,,ENST00000498552,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482331,;HTRA2,non_coding_transcript_exon_variant,,ENST00000465521,;HTRA2,non_coding_transcript_exon_variant,,ENST00000482205,;LOXL3,downstream_gene_variant,,ENST00000470907,;DQX1,upstream_gene_variant,,ENST00000473508,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000486234,;AUP1,upstream_gene_variant,,ENST00000464887,;AUP1,upstream_gene_variant,,ENST00000472800,;AUP1,upstream_gene_variant,,ENST00000462297,;							LOW	810/1377		HTRA2_HUMAN			Transcript			.	ENSP00000258080		CCDS1951.1			1	
OR2T8	0	LGGM	GRCh37	1	248084422	248084422	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	41	27	.	.	ENST00000319968.4:c.103A>T	p.Thr35Ser	p.T35S	ENST00000319968	NM_001005522.1	35	Acc/Tcc	0	1	1	UPI00001999E3	0	getma.org/pdb.php?prot=OR2T8_HUMAN&from=1&to=136&var=T35S	ENST00000319968		ENSG00000177462	15020		68	0.925		HGNC	p.T35S		OR2T8		SNV							ENST00000319968	protein_coding	getma.org/?cm=var&var=hg19,1,248084422,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF147,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		T/S		T	low	103/939		getma.org/?cm=msa&ty=f&p=OR2T8_HUMAN&rb=1&re=136&var=T35S	tolerated(0.07)				YES	OR2T8,missense_variant,p.Thr35Ser,ENST00000319968,NM_001005522.1;							MODERATE	103/939	T35S	OR2T8_HUMAN			Transcript		benign(0.009)	.	ENSP00000326225		CCDS31100.1			1	
UGGT2	0	LGGM	GRCh37	13	96592242	96592242	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	35	28	.	.	ENST00000376747.3:c.1781G>C	p.Gly594Ala	p.G594A	ENST00000376747	NM_020121.3	594	gGa/gCa	0	1	1	UPI00001FC9AA	0	NA	ENST00000376747		ENSG00000102595	15664		63	2.615		HGNC	p.G594A		UGGT2		SNV							ENST00000376747	protein_coding	getma.org/?cm=var&var=hg19,13,96592242,C,G&fts=all		hmmpanther:PTHR11226,hmmpanther:PTHR11226:SF1		G/A		G	medium	1852/4832		getma.org/?cm=msa&ty=f&p=UGGG2_HUMAN&rb=401&re=600&var=G594A	deleterious(0.01)				YES	UGGT2,missense_variant,p.Gly594Ala,ENST00000376747,NM_020121.3;							MODERATE	1781/4551	G594A	UGGG2_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000365938		CCDS9480.1			1	
PTPRC	0	LGGM	GRCh37	1	198687263	198687263	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	22	29	.	.	ENST00000442510.2:c.1491del	p.Asp498IlefsTer44	p.D498Ifs*44	ENST00000442510		497	tcA/tc	0	1	1	UPI000046FDB4	0		ENST00000442510		ENSG00000081237	9666		51			HGNC	p.S495fs		PTPRC		deletion			1				ENST00000367376	protein_coding			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		S/X		-		1632/5164				M9MML3_HUMAN,Q9H3X6_HUMAN,Q6QIR3_HUMAN,Q6QIQ5_HUMAN,Q6QIN9_HUMAN,Q6QIN1_HUMAN,Q6QIM3_HUMAN,Q6LDN6_HUMAN			YES	PTPRC,frameshift_variant,p.Asp496IlefsTer44,ENST00000367376,NM_002838.4;PTPRC,frameshift_variant,p.Asp448IlefsTer44,ENST00000352140,;PTPRC,frameshift_variant,p.Asp498IlefsTer44,ENST00000442510,;PTPRC,frameshift_variant,p.Asp335IlefsTer44,ENST00000594404,NM_080921.3;PTPRC,frameshift_variant,p.Asp337IlefsTer44,ENST00000348564,;PTPRC,frameshift_variant,p.Asp432IlefsTer44,ENST00000367367,;PTPRC,frameshift_variant,p.Asp384IlefsTer44,ENST00000530727,;PTPRC,frameshift_variant,p.Asp450IlefsTer44,ENST00000529828,;PTPRC,non_coding_transcript_exon_variant,,ENST00000491302,;							HIGH	1491/3921					Transcript			.	ENSP00000411355		CCDS1397.2			1	
ATP2C2	0	LGGM	GRCh37	16	84449095	84449095	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	46	30	.	.	ENST00000262429.4:c.522A>C	p.Arg174Ser	p.R174S	ENST00000262429	NM_014861.2	174	agA/agC	0	1	1	UPI0000252110	0	getma.org/pdb.php?prot=AT2C2_HUMAN&from=136&to=369&var=R174S	ENST00000262429		ENSG00000064270	29103		76	4.48		HGNC	p.R174S		ATP2C2		SNV							ENST00000262429	protein_coding	getma.org/?cm=var&var=hg19,16,84449095,A,C&fts=all		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF220,TIGRFAM_domain:TIGR01522,Pfam_domain:PF00122,Superfamily_domains:0049471		R/S		C	high	611/3376		getma.org/?cm=msa&ty=f&p=AT2C2_HUMAN&rb=136&re=369&var=R174S	deleterious(0)				YES	ATP2C2,missense_variant,p.Arg174Ser,ENST00000416219,NM_001286527.1;ATP2C2,missense_variant,p.Arg174Ser,ENST00000262429,NM_014861.2;ATP2C2,non_coding_transcript_exon_variant,,ENST00000420010,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565927,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565546,;ATP2C2,3_prime_UTR_variant,,ENST00000569207,;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565631,;ATP2C2,downstream_gene_variant,,ENST00000568160,;							MODERATE	522/2841	R174S	AT2C2_HUMAN			Transcript		possibly_damaging(0.59)	.	ENSP00000262429		CCDS42207.1			1	
NRXN3	0	LGGM	GRCh37	14	79432747	79432747	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	11	31	.	.	ENST00000554719.1:c.1656G>A	p.Lys552=	p.K552=	ENST00000554719	NM_004796.5	552	aaG/aaA	0	1	1	UPI0000167BBA	0		ENST00000554719		ENSG00000021645	8010		42			HGNC	p.K552K		NRXN3		SNV							ENST00000335750	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF405,hmmpanther:PTHR10127,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		K		A		2147/4156				G3V4R9_HUMAN,G3V247_HUMAN			YES	NRXN3,splice_region_variant,p.=,ENST00000554719,NM_004796.5;NRXN3,splice_region_variant,p.=,ENST00000335750,;NRXN3,splice_region_variant,p.=,ENST00000554738,;NRXN3,splice_region_variant,,ENST00000556496,;							LOW	1656/3186		NRX3A_HUMAN			Transcript			.	ENSP00000451648		CCDS9870.1			1	
MYO1G	0	LGGM	GRCh37	7	45006298	45006298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	111	31	.	.	ENST00000258787.7:c.1922G>T	p.Arg641Leu	p.R641L	ENST00000258787	NM_033054.2	641	cGc/cTc	0	1	1	UPI00001D747C	0	getma.org/pdb.php?prot=MYO1G_HUMAN&from=11&to=694&var=R641L	ENST00000258787		ENSG00000136286	13880		142	3.35		HGNC	p.R641L		MYO1G		SNV							ENST00000258787	protein_coding	getma.org/?cm=var&var=hg19,7,45006298,C,A&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		R/L		A	medium	2059/3267		getma.org/?cm=msa&ty=f&p=MYO1G_HUMAN&rb=11&re=694&var=R641L	deleterious(0)				YES	MYO1G,missense_variant,p.Arg641Leu,ENST00000258787,NM_033054.2;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,downstream_gene_variant,,ENST00000480503,;MYO1G,downstream_gene_variant,,ENST00000464434,;							MODERATE	1922/3057	R641L	MYO1G_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258787		CCDS34629.1			1	
MAP4	0	LGGM	GRCh37	3	47933896	47933896	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	109	31	.	.	ENST00000360240.6:c.2000-14883A>T		*667*	ENST00000360240	NM_002375.4			0	1	1	UPI000020A6A4	0		ENST00000360240		ENSG00000047849	6862		140			HGNC	p.D29V		MAP4		SNV							ENST00000420772	protein_coding							A		-/5142							YES	MAP4,missense_variant,p.Asp29Val,ENST00000420772,;MAP4,intron_variant,,ENST00000426837,;MAP4,intron_variant,,ENST00000395734,NM_001134364.1;MAP4,intron_variant,,ENST00000383737,;MAP4,intron_variant,,ENST00000360240,NM_002375.4;MAP4,intron_variant,,ENST00000264724,;MAP4,intron_variant,,ENST00000429422,;MAP4,intron_variant,,ENST00000383736,;MAP4,upstream_gene_variant,,ENST00000335271,;MAP4,upstream_gene_variant,,ENST00000441748,;MAP4,intron_variant,,ENST00000482752,;MAP4,non_coding_transcript_exon_variant,,ENST00000497735,;							MODIFIER	-/3459		MAP4_HUMAN			Transcript			.	ENSP00000353375		CCDS33750.1			1	
POM121C	0	LGGM	GRCh37	7	75053858	75053858	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	124	35	.	.	ENST00000453279.2:c.822G>T	p.Glu274Asp	p.E274D	ENST00000453279	NM_001099415.2	274	gaG/gaT	0	1	1	UPI00001C1E87	0	NA	ENST00000453279		ENSG00000135213	34005		159	2.56		HGNC	p.E274D		POM121C		SNV							ENST00000453279	protein_coding	getma.org/?cm=var&var=hg19,7,75053858,C,A&fts=all		Pfam_domain:PF15229,hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5		E/D		A	medium	1687/5839		getma.org/?cm=msa&ty=f&p=P121B_HUMAN&rb=8&re=832&var=E123D	deleterious(0.05)	C9JFL1_HUMAN,B4DDR5_HUMAN,A8MY32_HUMAN			YES	POM121C,missense_variant,p.Glu274Asp,ENST00000453279,NM_001099415.2;POM121C,missense_variant,p.Glu516Asp,ENST00000257665,;POM121C,downstream_gene_variant,,ENST00000439629,;POM121C,non_coding_transcript_exon_variant,,ENST00000473168,;POM121C,non_coding_transcript_exon_variant,,ENST00000473609,;POM121C,upstream_gene_variant,,ENST00000476072,;POM121C,downstream_gene_variant,,ENST00000479864,;							MODERATE	822/2964	E123D	P121C_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000414208		CCDS47617.1			1	
HMGCLL1	0	LGGM	GRCh37	6	55360267	55360267	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092773	H092773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	48	42	.	.	ENST00000398661.2:c.835T>C	p.Cys279Arg	p.C279R	ENST00000398661	NM_019036.2	279	Tgt/Cgt	0	1	1	UPI000023780E	0	getma.org/pdb.php?prot=HMGC2_HUMAN&from=86&to=334&var=C279R	ENST00000398661		ENSG00000146151	21359		90	3.21		HGNC	p.C249R		HMGCLL1		SNV							ENST00000274901	protein_coding	getma.org/?cm=var&var=hg19,6,55360267,A,G&fts=all		PROSITE_profiles:PS50991,hmmpanther:PTHR10277:SF33,hmmpanther:PTHR10277,Pfam_domain:PF00682,Gene3D:3.20.20.70,Superfamily_domains:SSF51569		C/R		G	medium	967/2532		getma.org/?cm=msa&ty=f&p=HMGC2_HUMAN&rb=86&re=334&var=C279R	deleterious(0)				YES	HMGCLL1,missense_variant,p.Cys279Arg,ENST00000398661,NM_019036.2;HMGCLL1,missense_variant,p.Cys249Arg,ENST00000274901,NM_001042406.1;HMGCLL1,missense_variant,p.Cys217Arg,ENST00000308161,;HMGCLL1,missense_variant,p.Cys146Arg,ENST00000370850,;HMGCLL1,intron_variant,,ENST00000508459,;HMGCLL1,3_prime_UTR_variant,,ENST00000370852,NM_001287746.1;							MODERATE	835/1113	C279R	HMGC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381654		CCDS43475.1			1	
NLRP3	0	LGGM	GRCh37	1	247587935	247587935	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	29	43	.	.	ENST00000336119.3:c.1190G>T	p.Ser397Ile	p.S397I	ENST00000336119	NM_001127462.2	397	aGt/aTt	0	1	1	UPI00001CE3AD	0	NA	ENST00000336119		ENSG00000162711	16400		72	2.325		HGNC	p.S397I	COSM533869	NLRP3		SNV			1			1	ENST00000348069	protein_coding	getma.org/?cm=var&var=hg19,1,247587935,G,T&fts=all		PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4		S/I		T	medium	1936/4170		getma.org/?cm=msa&ty=f&p=NALP3_HUMAN&rb=220&re=536&var=S397I	tolerated(0.05)	Q65Z67_HUMAN,B7ZKS9_HUMAN			YES	NLRP3,missense_variant,p.Ser397Ile,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Ser397Ile,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Ser397Ile,ENST00000366496,;NLRP3,missense_variant,p.Ser397Ile,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Ser397Ile,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Ser397Ile,ENST00000391827,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;					1		MODERATE	1190/3111	S397I	NALP3_HUMAN			Transcript		benign(0.066)	.	ENSP00000337383		CCDS1632.1			1	
UBE2D3	0	LGGM	GRCh37	4	103730994	103730994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	16	46	.	.	ENST00000357194.6:c.49C>T	p.Arg17Cys	p.R17C	ENST00000357194	NM_181893.2	17	Cgt/Tgt	0	1		UPI000000004D	0	getma.org/pdb.php?prot=UB2D3_HUMAN&from=5&to=142&var=R15C	ENST00000321805		ENSG00000109332	12476		62	3.255		HGNC	p.R15C		UBE2D3		SNV							ENST00000503418	protein_coding	getma.org/?cm=var&var=hg19,4,103730994,G,A&fts=all		Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF48,SMART_domains:SM00212,Superfamily_domains:SSF54495		R/C		A	medium	506/1087		getma.org/?cm=msa&ty=f&p=UB2D3_HUMAN&rb=5&re=142&var=R15C	tolerated_low_confidence(0.07)	D6RIZ3_HUMAN,D6RGD0_HUMAN,D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN,D6RA11_HUMAN				UBE2D3,missense_variant,p.Arg15Cys,ENST00000453744,NM_181891.2;UBE2D3,missense_variant,p.Arg15Cys,ENST00000394804,NM_181886.3;UBE2D3,missense_variant,p.Arg15Cys,ENST00000343106,NM_181892.3;UBE2D3,missense_variant,p.Arg15Cys,ENST00000394801,NM_003340.6,NM_181888.3;UBE2D3,missense_variant,p.Arg15Cys,ENST00000394803,NM_181889.2;UBE2D3,missense_variant,p.Arg15Cys,ENST00000321805,NM_181887.2;UBE2D3,missense_variant,p.Arg15Cys,ENST00000338145,NM_181890.2;UBE2D3,missense_variant,p.Arg15Cys,ENST00000349311,;UBE2D3,missense_variant,p.Arg9Cys,ENST00000350435,;UBE2D3,missense_variant,p.Arg17Cys,ENST00000357194,NM_181893.2;UBE2D3,missense_variant,p.Arg15Cys,ENST00000508249,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000502690,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000508238,;UBE2D3,5_prime_UTR_variant,,ENST00000508476,;UBE2D3,5_prime_UTR_variant,,ENST00000504211,;UBE2D3,5_prime_UTR_variant,,ENST00000507845,;UBE2D3,5_prime_UTR_variant,,ENST00000502404,;UBE2D3,5_prime_UTR_variant,,ENST00000505207,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000513098,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000505307,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000502563,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000503418,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000514755,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000510129,;UBE2D3,missense_variant,p.Arg15Cys,ENST00000508974,;UBE2D3,5_prime_UTR_variant,,ENST00000508635,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508474,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503742,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508818,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503282,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000510599,;							MODERATE	43/444	R15C	UB2D3_HUMAN			Transcript		benign(0.01)	.	ENSP00000318494		CCDS3660.1			1	
HMGXB4	0	LGGM	GRCh37	22	35660875	35660875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	57	51	.	.	ENST00000216106.5:c.494G>A	p.Gly165Asp	p.G165D	ENST00000216106	NM_001003681.2	165	gGc/gAc	0	1	1	UPI00003765B4	0	NA	ENST00000216106		ENSG00000100281	5003		108	0.55		HGNC	p.G165D		HMGXB4		SNV							ENST00000216106	protein_coding	getma.org/?cm=var&var=hg19,22,35660875,G,A&fts=all		Pfam_domain:PF13775,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF169		G/D		A	neutral	622/4047		getma.org/?cm=msa&ty=f&p=HMGX4_HUMAN&rb=107&re=233&var=G165D	tolerated_low_confidence(0.1)	Q7Z641_HUMAN,B0QXZ9_HUMAN,B0QXZ8_HUMAN			YES	HMGXB4,missense_variant,p.Gly165Asp,ENST00000216106,NM_001003681.2;HMGXB4,missense_variant,p.Gly56Asp,ENST00000444518,;HMGXB4,missense_variant,p.Gly56Asp,ENST00000455359,;HMGXB4,missense_variant,p.Gly56Asp,ENST00000420166,;HMGXB4,3_prime_UTR_variant,,ENST00000418170,;HMGXB4,downstream_gene_variant,,ENST00000498325,;HMGXB4,downstream_gene_variant,,ENST00000464480,;							MODERATE	494/1806	G165D	HMGX4_HUMAN			Transcript		benign(0.16)	.	ENSP00000216106		CCDS33641.1			1	
FLG	0	LGGM	GRCh37	1	152281933	152281933	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	291	52	.	.	ENST00000368799.1:c.5429A>T	p.Gln1810Leu	p.Q1810L	ENST00000368799	NM_002016.1	1810	cAg/cTg	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		343	2.555		HGNC	p.Q1810L		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152281933,T,A&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21		Q/L		A	medium	5465/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1726&re=1875&var=Q1810L		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Gln1810Leu,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							MODERATE	5429/12186	Q1810L	FILA_HUMAN			Transcript		benign(0.069)	.	ENSP00000357789		CCDS30860.1			1	
ZNF320	0	LGGM	GRCh37	19	53385238	53385238	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	72	58	.	.	ENST00000595635.1:c.143-2A>G		p.X48_splice	ENST00000595635	NM_207333.2			0	1		UPI00004EC06C	0		ENST00000391781		ENSG00000182986	13842		130			HGNC	-		ZNF320		SNV							ENST00000391781	protein_coding							C		-/6038				Q6ZP55_HUMAN,M0R2L4_HUMAN,M0R1K6_HUMAN,M0R0Z8_HUMAN,M0QZA2_HUMAN				ZNF320,splice_acceptor_variant,,ENST00000595635,NM_207333.2;ZNF320,splice_acceptor_variant,,ENST00000391781,;ZNF320,splice_acceptor_variant,,ENST00000593618,;ZNF320,splice_acceptor_variant,,ENST00000594741,;ZNF320,splice_acceptor_variant,,ENST00000597265,;ZNF320,intron_variant,,ENST00000597909,;ZNF320,intron_variant,,ENST00000597091,;ZNF320,intron_variant,,ENST00000600930,;ZNF320,upstream_gene_variant,,ENST00000598199,;							HIGH	143/1530		ZN320_HUMAN			Transcript			.	ENSP00000375660		CCDS33095.1			1	
SYNE1	0	LGGM	GRCh37	6	152599355	152599355	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	11	63	.	.	ENST00000367255.5:c.18442G>A	p.Glu6148Lys	p.E6148K	ENST00000367255	NM_182961.3	6148	Gag/Aag	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		74	2.175		HGNC	p.E672K		SYNE1		SNV			1				ENST00000356820	protein_coding	getma.org/?cm=var&var=hg19,6,152599355,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966		E/K		T	medium	19044/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=6036&re=6235&var=E6148K					YES	SYNE1,missense_variant,p.Glu6148Lys,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Glu6148Lys,ENST00000265368,;SYNE1,missense_variant,p.Glu6077Lys,ENST00000448038,;SYNE1,missense_variant,p.Glu6077Lys,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Glu5760Lys,ENST00000341594,;SYNE1,missense_variant,p.Glu672Lys,ENST00000356820,;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,;SYNE1,non_coding_transcript_exon_variant,,ENST00000489156,;SYNE1,non_coding_transcript_exon_variant,,ENST00000488376,;							MODERATE	18442/26394	E6148K	SYNE1_HUMAN			Transcript		benign(0.16)	.	ENSP00000356224		CCDS5236.2			1	
SERPINB13	0	LGGM	GRCh37	18	61254686	61254686	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	66	64	.	.	ENST00000344731.5:c.-18+2T>A		p.X6_splice	ENST00000344731	NM_012397.3			0	1	1	UPI000004EE29	0		ENST00000344731		ENSG00000197641	8944		130			HGNC	-		SERPINB13		SNV							ENST00000431153	protein_coding							A		-/3114							YES	SERPINB13,splice_donor_variant,,ENST00000344731,NM_012397.3;SERPINB13,splice_donor_variant,,ENST00000269489,;SERPINB13,splice_donor_variant,,ENST00000431153,;SERPINB13,upstream_gene_variant,,ENST00000415733,;SERPINB13,splice_donor_variant,,ENST00000438844,;SERPINB13,splice_donor_variant,,ENST00000479842,;							HIGH	-/1176		SPB13_HUMAN			Transcript			.	ENSP00000341584		CCDS11985.1			1	
NOP56	0	LGGM	GRCh37	20	2635460	2635460	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092773	H092773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	50	68	.	.	ENST00000329276.5:c.436C>G	p.Leu146Val	p.L146V	ENST00000329276	NM_006392.3	146	Ctg/Gtg	0	1	1	UPI000016A81D	0	NA	ENST00000329276		ENSG00000101361	15911		118	2.955		HGNC	p.L146V		NOP56		SNV			1				ENST00000329276	protein_coding	getma.org/?cm=var&var=hg19,20,2635460,C,G&fts=all		hmmpanther:PTHR10894:SF0,hmmpanther:PTHR10894		L/V		G	medium	952/2400		getma.org/?cm=msa&ty=f&p=NOP56_HUMAN&rb=71&re=166&var=L146V	deleterious(0.03)	Q9BSN3_HUMAN			YES	NOP56,missense_variant,p.Leu146Val,ENST00000329276,NM_006392.3;NOP56,missense_variant,p.Leu146Val,ENST00000445139,;IDH3B,downstream_gene_variant,,ENST00000380843,NM_006899.3;IDH3B,downstream_gene_variant,,ENST00000380851,NM_001258384.1,NM_174855.2;NOP56,upstream_gene_variant,,ENST00000415272,;SNORA51,upstream_gene_variant,,ENST00000606420,NR_002981.1;SNORD86,upstream_gene_variant,,ENST00000391196,NR_004399.1;SNORD110,downstream_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,,ENST00000480992,;NOP56,non_coding_transcript_exon_variant,,ENST00000494697,;NOP56,non_coding_transcript_exon_variant,,ENST00000460258,;NOP56,non_coding_transcript_exon_variant,,ENST00000496775,;IDH3B,downstream_gene_variant,,ENST00000488299,;IDH3B,downstream_gene_variant,,ENST00000474315,;NOP56,upstream_gene_variant,,ENST00000492135,;NOP56,upstream_gene_variant,,ENST00000466447,;NOP56,upstream_gene_variant,,ENST00000484998,;IDH3B,downstream_gene_variant,,ENST00000492240,;NOP56,upstream_gene_variant,,ENST00000462630,;NOP56,upstream_gene_variant,,ENST00000467857,;IDH3B,downstream_gene_variant,,ENST00000466494,;NOP56,downstream_gene_variant,,ENST00000470143,;NOP56,upstream_gene_variant,,ENST00000480447,;NOP56,upstream_gene_variant,,ENST00000490753,;IDH3B,downstream_gene_variant,,ENST00000477689,;NOP56,upstream_gene_variant,,ENST00000471023,;IDH3B,downstream_gene_variant,,ENST00000466999,;NOP56,upstream_gene_variant,,ENST00000467196,;							MODERATE	436/1785	L146V	NOP56_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000370589		CCDS13030.1			1	
RRBP1	0	LGGM	GRCh37	20	17639421	17639421	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H092773	H092773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	84	72	.	.	ENST00000377807.2:c.529-87A>G		*177*	ENST00000377807	NM_001042576.1			0	1	1	UPI000002B2C0	0		ENST00000377807		ENSG00000125844	10448		156			HGNC	p.K578E		RRBP1		SNV							ENST00000377813	protein_coding							C		-/3792				F8W7S5_HUMAN			YES	RRBP1,missense_variant,p.Lys578Glu,ENST00000377813,;RRBP1,missense_variant,p.Lys578Glu,ENST00000246043,;RRBP1,intron_variant,,ENST00000377807,NM_001042576.1;RRBP1,intron_variant,,ENST00000360807,NM_004587.2;RRBP1,intron_variant,,ENST00000455029,;RRBP1,downstream_gene_variant,,ENST00000398782,;RRBP1,missense_variant,p.Lys53Glu,ENST00000495501,;							MODIFIER	-/2934		RRBP1_HUMAN			Transcript			.	ENSP00000367038		CCDS13128.1			1	
COL6A6	0	LGGM	GRCh37	3	130290100	130290100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092773	H092773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092773N.bam, H092773T.bam	Illumina HiSeq	78	75	.	.	ENST00000358511.6:c.2840G>A	p.Gly947Glu	p.G947E	ENST00000358511	NM_001102608.1	947	gGg/gAg	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=809&to=982&var=G947E	ENST00000358511		ENSG00000206384	27023		153	3.455		HGNC	p.G947E		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130290100,G,A&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		G/E		A	medium	2871/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=809&re=982&var=G947E	deleterious(0)				YES	COL6A6,missense_variant,p.Gly947Glu,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Gly947Glu,ENST00000453409,;							MODERATE	2840/6792	G947E	CO6A6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351310		CCDS46911.1			1	
SEC24B	0	LGGM	GRCh37	4	110384140	110384140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	45	3	.	.	ENST00000265175.5:c.217C>A	p.Gln73Lys	p.Q73K	ENST00000265175	NM_006323.2	73	Caa/Aaa	0	1	1	UPI00004F6ED7	0	NA	ENST00000265175		ENSG00000138802	10704		48	0.695		HGNC	p.Q104K		SEC24B		SNV							ENST00000504968	protein_coding	getma.org/?cm=var&var=hg19,4,110384140,C,A&fts=all				Q/K		A	neutral	272/5083		getma.org/?cm=msa&ty=f&p=SC24B_HUMAN&rb=1&re=200&var=Q73K	deleterious_low_confidence(0.01)	B4E2E1_HUMAN			YES	SEC24B,missense_variant,p.Gln73Lys,ENST00000265175,NM_006323.2;SEC24B,missense_variant,p.Gln104Lys,ENST00000504968,;SEC24B,missense_variant,p.Gln73Lys,ENST00000399100,NM_001042734.1;							MODERATE	217/3807	Q73K	SC24B_HUMAN			Transcript		benign(0.002)	.	ENSP00000265175		CCDS47124.1			1	
SCFD2	0	LGGM	GRCh37	4	54140037	54140037	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	30	3	.	.	ENST00000401642.3:c.1267G>T	p.Ala423Ser	p.A423S	ENST00000401642	NM_152540.3	423	Gcc/Tcc	0	1	1	UPI000006FB05	0	NA	ENST00000401642		ENSG00000184178	30676		33	1.04		HGNC	p.A423S		SCFD2		SNV							ENST00000401642	protein_coding	getma.org/?cm=var&var=hg19,4,54140037,C,A&fts=all		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF29,Superfamily_domains:SSF56815		A/S		A	low	1401/3176		getma.org/?cm=msa&ty=f&p=SCFD2_HUMAN&rb=385&re=670&var=A423S	tolerated(0.85)	D6RCK6_HUMAN			YES	SCFD2,missense_variant,p.Ala423Ser,ENST00000401642,NM_152540.3;SCFD2,missense_variant,p.Ala423Ser,ENST00000388940,;							MODERATE	1267/2055	A423S	SCFD2_HUMAN			Transcript		benign(0.119)	.	ENSP00000384182		CCDS33984.1			1	
NPC1	0	LGGM	GRCh37	18	21123514	21123514	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	37	3	.	.	ENST00000269228.5:c.2150G>T	p.Gly717Val	p.G717V	ENST00000269228	NM_000271.4	717	gGg/gTg	0	1	1	UPI000013D80F	0	NA	ENST00000269228		ENSG00000141458	7897		40	1.505		HGNC	p.G717V		NPC1		SNV			1				ENST00000269228	protein_coding	getma.org/?cm=var&var=hg19,18,21123514,C,A&fts=all		Gene3D:2j8sB01,Pfam_domain:PF12349,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF35,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00917		G/V		A	low	2705/5157		getma.org/?cm=msa&ty=f&p=NPC1_HUMAN&rb=649&re=803&var=G717V	tolerated(0.09)				YES	NPC1,missense_variant,p.Gly717Val,ENST00000269228,NM_000271.4;NPC1,missense_variant,p.Gly410Val,ENST00000591051,;NPC1,missense_variant,p.Gly399Val,ENST00000412552,;NPC1,non_coding_transcript_exon_variant,,ENST00000540608,;NPC1,upstream_gene_variant,,ENST00000591075,;NPC1,upstream_gene_variant,,ENST00000586718,;NPC1,upstream_gene_variant,,ENST00000591955,;							MODERATE	2150/3837	G717V	NPC1_HUMAN			Transcript		benign(0.371)	.	ENSP00000269228		CCDS11878.1			1	
TBC1D9B	0	LGGM	GRCh37	5	179297261	179297261	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	38	3	.	.	ENST00000356834.3:c.2719G>T	p.Gly907Trp	p.G907W	ENST00000356834	NM_198868.2	907	Ggg/Tgg	0	1	1	UPI000034ECFF	0	NA	ENST00000356834		ENSG00000197226	29097		41	2.665		HGNC	p.G907W		TBC1D9B		SNV							ENST00000355235	protein_coding	getma.org/?cm=var&var=hg19,5,179297261,C,A&fts=all		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,Superfamily_domains:SSF47473		G/W		A	medium	2757/5173		getma.org/?cm=msa&ty=f&p=TBC9B_HUMAN&rb=879&re=914&var=G907W	tolerated(0.22)				YES	TBC1D9B,missense_variant,p.Gly907Trp,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Gly907Trp,ENST00000355235,NM_015043.3;TBC1D9B,missense_variant,p.Gly83Trp,ENST00000519746,;TBC1D9B,missense_variant,p.Gly65Trp,ENST00000444477,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522180,;TBC1D9B,upstream_gene_variant,,ENST00000518085,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000521469,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000520912,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000519757,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000522921,;TBC1D9B,upstream_gene_variant,,ENST00000520794,;TBC1D9B,downstream_gene_variant,,ENST00000518459,;TBC1D9B,downstream_gene_variant,,ENST00000521669,;							MODERATE	2719/3753	G907W	TBC9B_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000349291		CCDS43408.1			1	
ITPR3	0	LGGM	GRCh37	6	33638529	33638529	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	35	3	.	.	ENST00000374316.5:c.2523C>A	p.Leu841=	p.L841=	ENST00000374316		841	ctC/ctA	0	1	1	UPI000013CB74	0		ENST00000374316		ENSG00000096433	6182		38			HGNC	p.L841L		ITPR3		SNV							ENST00000374316	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51		L		A		3583/9870				A6H8K3_HUMAN			YES	ITPR3,synonymous_variant,p.=,ENST00000374316,;ITPR3,synonymous_variant,p.=,ENST00000605930,NM_002224.3;							LOW	2523/8016		ITPR3_HUMAN			Transcript			.	ENSP00000363435		CCDS4783.1			1	
CSRP2BP	0	LGGM	GRCh37	20	18143303	18143303	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	46	3	.	.	ENST00000435364.3:c.1385C>A	p.Pro462His	p.P462H	ENST00000435364	NM_020536.4	462	cCc/cAc	0	1	1	UPI000013DB91	0	NA	ENST00000435364		ENSG00000149474	15904		49	0.205		HGNC	p.P461H		CSRP2BP		SNV							ENST00000377681	protein_coding	getma.org/?cm=var&var=hg19,20,18143303,C,A&fts=all		hmmpanther:PTHR20916,hmmpanther:PTHR20916:SF0		P/H		A	neutral	1726/3618		getma.org/?cm=msa&ty=f&p=CSR2B_HUMAN&rb=459&re=658&var=P462H	deleterious(0.02)	D6RAU4_HUMAN			YES	CSRP2BP,missense_variant,p.Pro462His,ENST00000435364,NM_020536.4;CSRP2BP,missense_variant,p.Pro461His,ENST00000377681,;CSRP2BP,missense_variant,p.Pro334His,ENST00000489634,;							MODERATE	1385/2349	P462H	CSR2B_HUMAN			Transcript		benign(0.401)	.	ENSP00000392318		CCDS13133.1			1	
GRN	0	LGGM	GRCh37	17	42429515	42429515	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	39	3	.	.	ENST00000053867.3:c.1312C>A	p.His438Asn	p.H438N	ENST00000053867	NM_002087.2	438	Cac/Aac	0	1	1	UPI00000015E0	0	NA	ENST00000053867		ENSG00000030582	4601		42	1.1		HGNC	p.H281N		GRN		SNV			1				ENST00000589265	protein_coding	getma.org/?cm=var&var=hg19,17,42429515,C,A&fts=all		hmmpanther:PTHR12274		H/N		A	low	1374/2148		getma.org/?cm=msa&ty=f&p=GRN_HUMAN&rb=419&re=454&var=H438N	tolerated(0.44)	K7EQK6_HUMAN,K7EQA7_HUMAN,K7ENN1_HUMAN,K7ENI2_HUMAN,K7EM89_HUMAN,K7ELY1_HUMAN,K7EK92_HUMAN,K7EJY4_HUMAN			YES	GRN,missense_variant,p.His438Asn,ENST00000053867,NM_002087.2;GRN,missense_variant,p.His281Asn,ENST00000589265,;GRN,missense_variant,p.His252Asn,ENST00000586443,;FAM171A2,downstream_gene_variant,,ENST00000293443,NM_198475.2;GRN,downstream_gene_variant,,ENST00000593167,;GRN,upstream_gene_variant,,ENST00000586242,;GRN,downstream_gene_variant,,ENST00000587387,;GRN,downstream_gene_variant,,ENST00000591740,;GRN,downstream_gene_variant,,ENST00000585512,;GRN,downstream_gene_variant,,ENST00000588237,;GRN,downstream_gene_variant,,ENST00000589536,;GRN,downstream_gene_variant,,ENST00000588143,;GRN,downstream_gene_variant,,ENST00000592783,;GRN,downstream_gene_variant,,ENST00000587109,;GRN,downstream_gene_variant,,ENST00000587518,;GRN,downstream_gene_variant,,ENST00000589923,;FAM171A2,downstream_gene_variant,,ENST00000589407,;FAM171A2,downstream_gene_variant,,ENST00000588067,;GRN,downstream_gene_variant,,ENST00000586782,;GRN,downstream_gene_variant,,ENST00000585348,;GRN,downstream_gene_variant,,ENST00000588170,;GRN,downstream_gene_variant,,ENST00000590984,;GRN,downstream_gene_variant,,ENST00000587958,;GRN,downstream_gene_variant,,ENST00000592323,;							MODERATE	1312/1782	H438N	GRN_HUMAN			Transcript		benign(0.045)	.	ENSP00000053867		CCDS11483.1			1	
SLC6A15	0	LGGM	GRCh37	12	85277669	85277669	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	47	3	.	.	ENST00000266682.5:c.725C>A	p.Ala242Asp	p.A242D	ENST00000266682	NM_182767.5	242	gCt/gAt	0	1	1	UPI0000038BF2	0	getma.org/pdb.php?prot=S6A15_HUMAN&from=61&to=644&var=A242D	ENST00000266682		ENSG00000072041	13621		50	3.12		HGNC	p.A135D		SLC6A15		SNV							ENST00000552192	protein_coding	getma.org/?cm=var&var=hg19,12,85277669,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687		A/D		T	medium	1267/4044		getma.org/?cm=msa&ty=f&p=S6A15_HUMAN&rb=61&re=644&var=A242D	deleterious(0.01)	Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN			YES	SLC6A15,missense_variant,p.Ala242Asp,ENST00000450363,NM_018057.6;SLC6A15,missense_variant,p.Ala242Asp,ENST00000266682,NM_182767.5;SLC6A15,missense_variant,p.Ala135Asp,ENST00000552192,NM_001146335.2;SLC6A15,intron_variant,,ENST00000551612,;SLC6A15,intron_variant,,ENST00000551388,;SLC6A15,downstream_gene_variant,,ENST00000547240,;							MODERATE	725/2193	A242D	S6A15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266682		CCDS9026.1			1	
FHDC1	0	LGGM	GRCh37	4	153897421	153897421	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	11	3	.	.	ENST00000511601.1:c.2978C>A	p.Pro993His	p.P993H	ENST00000511601		993	cCc/cAc	0	1		UPI00001D7673	0	NA	ENST00000260008		ENSG00000137460	29363		14	0.805		HGNC	p.P993H		FHDC1		SNV							ENST00000260008	protein_coding	getma.org/?cm=var&var=hg19,4,153897421,C,A&fts=all		hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213		P/H		A	low	3053/6480		getma.org/?cm=msa&ty=f&p=FHDC1_HUMAN&rb=839&re=1141&var=P993H	deleterious(0)					FHDC1,missense_variant,p.Pro993His,ENST00000511601,;FHDC1,missense_variant,p.Pro993His,ENST00000260008,NM_033393.2;							MODERATE	2978/3432	P993H	FHDC1_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000260008		CCDS34081.1			1	
FNDC3A	0	LGGM	GRCh37	13	49781484	49781484	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	0	3	.	.	ENST00000492622.2:c.3550T>G	p.Phe1184Val	p.F1184V	ENST00000492622	NM_001079673.1	1184	Ttt/Gtt	0	1	1	UPI0000229601	0	NA	ENST00000492622		ENSG00000102531	20296		3	1.13		HGNC	p.F1184V		FNDC3A		SNV							ENST00000492622	protein_coding	getma.org/?cm=var&var=hg19,13,49781484,T,G&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF38,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		F/V		G	low	3855/6286		getma.org/?cm=msa&ty=f&p=FND3A_HUMAN&rb=1036&re=1198&var=F1184V	tolerated(1)				YES	FNDC3A,missense_variant,p.Phe1184Val,ENST00000492622,NM_001079673.1;FNDC3A,missense_variant,p.Phe1128Val,ENST00000398316,NM_014923.4;FNDC3A,missense_variant,p.Phe1184Val,ENST00000541916,NM_001278438.1;FNDC3A,3_prime_UTR_variant,,ENST00000484074,;FNDC3A,downstream_gene_variant,,ENST00000497644,;OGFOD1P1,downstream_gene_variant,,ENST00000447552,;							MODERATE	3550/3597	F1184V	FND3A_HUMAN			Transcript		benign(0.002)	.	ENSP00000417257		CCDS41886.1			1	
PLXNB1	0	LGGM	GRCh37	3	48462681	48462681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	37	3	.	.	ENST00000358536.4:c.1766C>A	p.Pro589His	p.P589H	ENST00000358536	NM_002673.4	589	cCc/cAc	0	1		UPI0000038131	0	getma.org/pdb.php?prot=PLXB1_HUMAN&from=530&to=682&var=P589H	ENST00000296440		ENSG00000164050	9103		40	1.245		HGNC	p.P589H		PLXNB1		SNV							ENST00000358459	protein_coding	getma.org/?cm=var&var=hg19,3,48462681,G,T&fts=all		hmmpanther:PTHR22625:SF36,hmmpanther:PTHR22625		P/H		T	low	1869/7143		getma.org/?cm=msa&ty=f&p=PLXB1_HUMAN&rb=530&re=682&var=P589H	tolerated(0.18)	G8JLJ7_HUMAN,B3KRL1_HUMAN				PLXNB1,missense_variant,p.Pro589His,ENST00000358536,NM_002673.4;PLXNB1,missense_variant,p.Pro589His,ENST00000296440,NM_001130082.1;PLXNB1,missense_variant,p.Pro589His,ENST00000358459,;PLXNB1,missense_variant,p.Pro589His,ENST00000456774,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Pro589His,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000462738,;							MODERATE	1766/6408	P589H	PLXB1_HUMAN			Transcript		benign(0.004)	.	ENSP00000296440		CCDS2765.1			1	
RNF207	0	LGGM	GRCh37	1	6270000	6270000	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	7	3	.	.	ENST00000377939.4:c.770G>C	p.Arg257Thr	p.R257T	ENST00000377939	NM_207396.2	257	aGg/aCg	0	1	1	UPI0000F0A526	0	NA	ENST00000377939		ENSG00000158286	32947		10	1.21		HGNC	p.R257T		RNF207		SNV							ENST00000377939	protein_coding	getma.org/?cm=var&var=hg19,1,6270000,G,C&fts=all		hmmpanther:PTHR22635		R/T		C	low	897/3924		getma.org/?cm=msa&ty=f&p=RN207_HUMAN&rb=146&re=345&var=R257T	tolerated(0.36)				YES	RNF207,missense_variant,p.Arg257Thr,ENST00000377939,NM_207396.2;RNF207,missense_variant,p.Arg30Thr,ENST00000377948,;RPL22,upstream_gene_variant,,ENST00000465335,;RPL22,upstream_gene_variant,,ENST00000471204,;RP1-120G22.11,upstream_gene_variant,,ENST00000455744,;RNF207,upstream_gene_variant,,ENST00000483336,;RNF207,upstream_gene_variant,,ENST00000463453,;RNF207,non_coding_transcript_exon_variant,,ENST00000496676,;RNF207,non_coding_transcript_exon_variant,,ENST00000485539,;RNF207,downstream_gene_variant,,ENST00000466994,;RNF207,upstream_gene_variant,,ENST00000492476,;RNF207,downstream_gene_variant,,ENST00000484435,;RNF207,upstream_gene_variant,,ENST00000496329,;							MODERATE	770/1905	R257T	RN207_HUMAN			Transcript		benign(0.012)	.	ENSP00000367173		CCDS59.2			1	
CCDC74A	0	LGGM	GRCh37	2	132288294	132288294	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	39	4	.	.	ENST00000295171.6:c.438A>C	p.Gly146=	p.G146=	ENST00000295171	NM_138770.2	146	ggA/ggC	0	1	1	UPI000006E43A	0		ENST00000295171		ENSG00000163040	25197		43			HGNC	p.G248G		CCDC74A		SNV							ENST00000467992	protein_coding					G		C		576/1543							YES	CCDC74A,synonymous_variant,p.=,ENST00000467992,;CCDC74A,synonymous_variant,p.=,ENST00000295171,NM_138770.2,NM_001258305.1,NM_001258304.1;CCDC74A,intron_variant,,ENST00000409856,NM_001258306.1;CCDC74A,intron_variant,,ENST00000434330,;CCDC74A,downstream_gene_variant,,ENST00000478665,;CCDC74A,3_prime_UTR_variant,,ENST00000454549,;CCDC74A,downstream_gene_variant,,ENST00000465939,;CCDC74A,downstream_gene_variant,,ENST00000468650,;MED15P4,downstream_gene_variant,,ENST00000417579,;							LOW	438/1137		CC74A_HUMAN			Transcript			.	ENSP00000295171		CCDS2167.1			1	
MYLK	0	LGGM	GRCh37	3	123339178	123339178	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	93	4	.	.	ENST00000360304.3:c.5244G>T	p.Thr1748=	p.T1748=	ENST00000360304	NM_053025.3	1748	acG/acT	0	1	1	UPI000020A0AE	0		ENST00000360304		ENSG00000065534	7590		97			HGNC	p.T1697T		MYLK		SNV			1				ENST00000360772	protein_coding			hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44		T		A		5526/7834				Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN			YES	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.=,ENST00000346322,NM_053026.3;MYLK,synonymous_variant,p.=,ENST00000475616,;MYLK,synonymous_variant,p.=,ENST00000354792,;MYLK,5_prime_UTR_variant,,ENST00000418370,NM_053032.2;MYLK,5_prime_UTR_variant,,ENST00000578202,NM_053031.2;MYLK,5_prime_UTR_variant,,ENST00000583087,;MYLK-AS1,intron_variant,,ENST00000470449,;MYLK-AS1,intron_variant,,ENST00000485162,;MYLK-AS1,intron_variant,,ENST00000463408,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000515434,;							LOW	5244/5745		MYLK_HUMAN			Transcript			.	ENSP00000353452		CCDS46896.1			1	
EPB42	0	LGGM	GRCh37	15	43500499	43500499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	20	4	.	.	ENST00000300215.3:c.1094C>T	p.Thr365Met	p.T365M	ENST00000300215		365	aCg/aTg	0	1		UPI000050ED3D	0	getma.org/pdb.php?prot=EPB42_HUMAN&from=224&to=351&var=T335M	ENST00000441366		ENSG00000166947	3381		24	2.175		HGNC	p.T257M		EPB42		SNV			1				ENST00000540029	protein_coding	getma.org/?cm=var&var=hg19,15,43500499,G,A&fts=all		hmmpanther:PTHR11590:SF37,hmmpanther:PTHR11590,Gene3D:1ex0A02,Pfam_domain:PF01841,SMART_domains:SM00460,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001		T/M		A	medium	1230/2374		getma.org/?cm=msa&ty=f&p=EPB42_HUMAN&rb=224&re=351&var=T335M	deleterious(0.01)	Q4VB96_HUMAN				EPB42,missense_variant,p.Thr365Met,ENST00000300215,;EPB42,missense_variant,p.Thr335Met,ENST00000441366,NM_001114134.1,NM_000119.2;EPB42,missense_variant,p.Thr257Met,ENST00000540029,;EPB42,missense_variant,p.Thr288Met,ENST00000568508,;EPB42,missense_variant,p.Thr188Met,ENST00000569204,;EPB42,upstream_gene_variant,,ENST00000565459,;EPB42,upstream_gene_variant,,ENST00000563128,;EPB42,non_coding_transcript_exon_variant,,ENST00000567019,;							MODERATE	1004/2076	T335M	EPB42_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000396616		CCDS45249.1			1	
HES1	0	LGGM	GRCh37	3	193855525	193855525	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	14	4	.	.	ENST00000232424.3:c.346G>T	p.Glu116Ter	p.E116*	ENST00000232424	NM_005524.3	116	Gag/Tag	0	1	1	UPI0000037B01	0	NA	ENST00000232424		ENSG00000114315	5192		18	0		HGNC	p.E116X		HES1		SNV							ENST00000232424	protein_coding	getma.org/?cm=var&var=hg19,3,193855525,G,T&fts=all		Superfamily_domains:0053813,Pfam_domain:PF07527,PROSITE_profiles:PS51054,hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF19,SMART_domains:SM00511		E/*		T	NA	582/1578		NA		Q8IXV0_HUMAN			YES	HES1,stop_gained,p.Glu116Ter,ENST00000232424,NM_005524.3;HES1,downstream_gene_variant,,ENST00000476918,;							HIGH	346/843	E116*	HES1_HUMAN			Transcript			.	ENSP00000232424		CCDS3305.1			1	
GPC6	0	LGGM	GRCh37	13	95055399	95055399	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	1	5	.	.	ENST00000377047.4:c.1596C>T	p.Ala532=	p.A532=	ENST00000377047	NM_005708.3	532	gcC/gcT	0	1	1	UPI0000032F5B	0		ENST00000377047		ENSG00000183098	4454		6			HGNC	p.A532A		GPC6		SNV			1				ENST00000377047	protein_coding			hmmpanther:PTHR10822:SF26,hmmpanther:PTHR10822,Pfam_domain:PF01153		A		T		2211/6467							YES	GPC6,synonymous_variant,p.=,ENST00000377047,NM_005708.3;							LOW	1596/1668		GPC6_HUMAN			Transcript			.	ENSP00000366246		CCDS9469.1			1	
TMEM128	0	LGGM	GRCh37	4	4239593	4239593	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	43	5	.	.	ENST00000254742.2:c.396G>T	p.Gly132=	p.G132=	ENST00000254742	NM_032927.2	132	ggG/ggT	0	1		UPI0000037794	0		ENST00000382753		ENSG00000132406	28201		48			HGNC	p.G132G		TMEM128		SNV							ENST00000254742	protein_coding			hmmpanther:PTHR31134,hmmpanther:PTHR31134:SF1,Transmembrane_helices:TMhelix		G		A		478/1221				D3DVS1_HUMAN,B7Z3K1_HUMAN				TMEM128,synonymous_variant,p.=,ENST00000254742,NM_032927.2;TMEM128,synonymous_variant,p.=,ENST00000382753,;TMEM128,synonymous_variant,p.=,ENST00000540397,;TMEM128,intron_variant,,ENST00000538516,;							LOW	468/498					Transcript			.	ENSP00000372201					1	
NPEPL1	0	LGGM	GRCh37	20	57289721	57289721	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	13	5	.	.	ENST00000356091.6:c.1408C>A	p.His470Asn	p.H470N	ENST00000356091	NM_024663.3	470	Cat/Aat	0	1	1	UPI000036789E	0	getma.org/pdb.php?prot=PEPL1_HUMAN&from=178&to=485&var=H470N	ENST00000356091		ENSG00000215440	16244		18	1.6		HGNC	p.H422N		NPEPL1		SNV							ENST00000525817	protein_coding	getma.org/?cm=var&var=hg19,20,57289721,C,A&fts=all		hmmpanther:PTHR11963:SF4,hmmpanther:PTHR11963,Pfam_domain:PF00883,Gene3D:3.40.630.10,Superfamily_domains:SSF53187		H/N		A	low	1696/2378		getma.org/?cm=msa&ty=f&p=PEPL1_HUMAN&rb=178&re=485&var=H470N	tolerated(0.06)	H0UI76_HUMAN			YES	NPEPL1,missense_variant,p.His470Asn,ENST00000356091,NM_024663.3;NPEPL1,missense_variant,p.His442Asn,ENST00000525967,NM_001204872.1;NPEPL1,missense_variant,p.His422Asn,ENST00000525817,NM_001204873.1;RP11-261P9.4,downstream_gene_variant,,ENST00000530479,;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527081,;NPEPL1,non_coding_transcript_exon_variant,,ENST00000525068,;NPEPL1,upstream_gene_variant,,ENST00000532531,;NPEPL1,downstream_gene_variant,,ENST00000533788,;							MODERATE	1408/1572	H470N	PEPL1_HUMAN			Transcript		benign(0.024)	.	ENSP00000348395		CCDS46621.1			1	
MAGEB16	0	LGGM	GRCh37	X	35820620	35820620	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	10	6	.	.	ENST00000399989.1:c.307T>A	p.Ser103Thr	p.S103T	ENST00000399989	NM_001099921.1	103	Tca/Aca	0	1		UPI00006C1BC1	0	NA	ENST00000399985		ENSG00000189023	21188		16	1.15		HGNC	p.S103T		MAGEB16		SNV							ENST00000399988	protein_coding	getma.org/?cm=var&var=hg19,X,35820620,T,A&fts=all		hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF24,Low_complexity_(Seg):seg		S/T		A	low	435/1667		getma.org/?cm=msa&ty=f&p=MAGBG_HUMAN&rb=70&re=149&var=S103T	tolerated(0.12)					MAGEB16,missense_variant,p.Ser103Thr,ENST00000399989,NM_001099921.1;MAGEB16,missense_variant,p.Ser103Thr,ENST00000399987,;MAGEB16,missense_variant,p.Ser135Thr,ENST00000399992,;MAGEB16,missense_variant,p.Ser103Thr,ENST00000399988,;MAGEB16,missense_variant,p.Ser103Thr,ENST00000399985,;							MODERATE	307/975	S103T	MAGBG_HUMAN			Transcript		benign(0.105)	.	ENSP00000382867		CCDS43927.1			1	
SNX1	0	LGGM	GRCh37	15	64426941	64426958	+	inframe_deletion	In_Frame_Del	DEL	GAGGCTCGGCTGCTGTGG	GAGGCTCGGCTGCTGTGG	-	novel	by Submitter	H092789	H092789N.bam	GAGGCTCGGCTGCTGTGG	GAGGCTCGGCTGCTGTGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	18	6	.	.	ENST00000261889.5:c.1301_1318del	p.Glu434_Trp439del	p.E434_W439del	ENST00000261889	NM_001242933.1	434	GAGGCTCGGCTGCTGTGG/-	0	1		UPI0000135B3E	0		ENST00000559844		ENSG00000028528	11172		24			HGNC	p.434_439del		SNX1		deletion							ENST00000261889	protein_coding			hmmpanther:PTHR10555:SF129,hmmpanther:PTHR10555,Pfam_domain:PF09325,Superfamily_domains:SSF103657		EARLLW/-		-		1314-1331/1971				H0YK42_HUMAN				SNX1,inframe_deletion,p.Glu434_Trp439del,ENST00000261889,NM_001242933.1,NM_003099.4;SNX1,inframe_deletion,p.Glu434_Trp439del,ENST00000559844,;SNX1,inframe_deletion,p.Glu216_Trp221del,ENST00000560829,;SNX1,inframe_deletion,p.Glu369_Trp374del,ENST00000561026,NM_148955.3;SNX1,intron_variant,,ENST00000353874,;SNX1,intron_variant,,ENST00000558040,;SNX1,upstream_gene_variant,,ENST00000560861,;SNX1,downstream_gene_variant,,ENST00000559339,;SNX1,3_prime_UTR_variant,,ENST00000380285,;SNX1,3_prime_UTR_variant,,ENST00000560260,;SNX1,non_coding_transcript_exon_variant,,ENST00000559961,;SNX1,non_coding_transcript_exon_variant,,ENST00000559401,;							MODERATE	1300-1317/1569		SNX1_HUMAN			Transcript	1		.	ENSP00000453785		CCDS32266.1			1	
CHAF1A	0	LGGM	GRCh37	19	4428754	4428754	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	18	6	.	.	ENST00000301280.5:c.1471C>G	p.Leu491Val	p.L491V	ENST00000301280	NM_005483.2	491	Ctc/Gtc	0	1	1	UPI00002030F8	0	NA	ENST00000301280		ENSG00000167670	1910		24	1.06		HGNC	p.L491V		CHAF1A		SNV							ENST00000301280	protein_coding	getma.org/?cm=var&var=hg19,19,4428754,C,G&fts=all		hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0,Low_complexity_(Seg):seg		L/V		G	low	1572/3339		getma.org/?cm=msa&ty=f&p=CAF1A_HUMAN&rb=435&re=556&var=L491V	tolerated(0.26)				YES	CHAF1A,missense_variant,p.Leu491Val,ENST00000301280,NM_005483.2;CHAF1A,missense_variant,p.Leu257Val,ENST00000587739,;CTB-50L17.5,downstream_gene_variant,,ENST00000590159,;CHAF1A,upstream_gene_variant,,ENST00000587368,;CHAF1A,3_prime_UTR_variant,,ENST00000585371,;							MODERATE	1471/2871	L491V	CAF1A_HUMAN			Transcript		benign(0.119)	.	ENSP00000301280		CCDS32875.1			1	
PPP2R1B	0	LGGM	GRCh37	11	111613292	111613292	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	15	6	.	.	ENST00000311129.5:c.1652A>G	p.Asn551Ser	p.N551S	ENST00000311129	NM_181699.2	551	aAt/aGt	0	1		UPI0000169868	0	getma.org/pdb.php?prot=2AAB_HUMAN&from=480&to=601&var=N551S	ENST00000527614		ENSG00000137713	9303	8.67E-05	21	3.375		HGNC	p.N487S	rs367938997,COSM2155218,COSM3397410	PPP2R1B	6.07E-05	SNV	C:0.0005			0.000193		0,1,1	ENST00000426998	protein_coding	getma.org/?cm=var&var=hg19,11,111613292,T,C&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF13646,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371		N/S	C:0	C	medium	1718/5587	6.00E-05	getma.org/?cm=msa&ty=f&p=2AAB_HUMAN&rb=480&re=601&var=N551S	deleterious(0.01)					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,;					0,1,1		MODERATE	1652/1806	N551S	2AAB_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000437193	6.59E-05	CCDS8349.1			1	
NCOR1	0	LGGM	GRCh37	17	16040701	16040701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	9	7	.	.	ENST00000268712.3:c.1433A>G	p.Tyr478Cys	p.Y478C	ENST00000268712	NM_006311.3	478	tAc/tGc	0	1	1	UPI000013D7D5	0	getma.org/pdb.php?prot=NCOR1_HUMAN&from=435&to=486&var=Y478C	ENST00000268712		ENSG00000141027	7672		16	3.63		HGNC	p.Y487C		NCOR1		SNV							ENST00000582357	protein_coding	getma.org/?cm=var&var=hg19,17,16040701,T,C&fts=all		PROSITE_profiles:PS51293,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF5,SMART_domains:SM00717,Superfamily_domains:SSF46689		Y/C		C	high	1691/10720		getma.org/?cm=msa&ty=f&p=NCOR1_HUMAN&rb=435&re=486&var=Y478C		Q9NSZ0_HUMAN,C9JAP0_HUMAN,B4DJ25_HUMAN			YES	NCOR1,missense_variant,p.Tyr478Cys,ENST00000268712,NM_006311.3;NCOR1,missense_variant,p.Tyr478Cys,ENST00000395851,NM_001190440.1;NCOR1,missense_variant,p.Tyr369Cys,ENST00000395848,NM_001190438.1;NCOR1,missense_variant,p.Tyr487Cys,ENST00000436828,;NCOR1,missense_variant,p.Tyr478Cys,ENST00000411510,;NCOR1,missense_variant,p.Tyr487Cys,ENST00000582357,;RNU6-862P,downstream_gene_variant,,ENST00000362804,;NCOR1,3_prime_UTR_variant,,ENST00000460276,;							MODERATE	1433/7323	Y478C	NCOR1_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000268712		CCDS11175.1			1	
KRTAP9-8	0	LGGM	GRCh37	17	39394711	39394725	+	inframe_deletion	In_Frame_Del	DEL	GACCACCTGCTGCAG	GACCACCTGCTGCAG	-	novel	by Submitter	H092789	H092789N.bam	GACCACCTGCTGCAG	GACCACCTGCTGCAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	10	7	.	.	ENST00000254072.6:c.414_428del	p.Cys140_Cys144del	p.C140_C144del	ENST00000254072	NM_031963.2	136	gaGACCACCTGCTGCAGg/gag	0	1	1	UPI000013CE12	0		ENST00000254072		ENSG00000187272	17231	0.123	17			HGNC	p.136_141del	rs373648251,COSM1383118	KRTAP9-8	0.0879	deletion				0.0241		0,1	ENST00000254072	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF36,Pfam_domain:PF13885		ETTCCR/E		-		415-429/960	0.104						YES	KRTAP9-8,inframe_deletion,p.Cys140_Cys144del,ENST00000254072,NM_031963.2;	0.187				0,1		MODERATE	408-422/480		KRA98_HUMAN	0.197		Transcript	6		common_variant	ENSP00000254072	0.106	CCDS42334.1	0.134		1	
MYO5C	0	LGGM	GRCh37	15	52556443	52556443	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	6	8	.	.	ENST00000261839.7:c.991C>G	p.Leu331Val	p.L331V	ENST00000261839	NM_018728.3	331	Cta/Gta	0	1	1	UPI000013D20E	0	getma.org/pdb.php?prot=MYO5C_HUMAN&from=69&to=741&var=L331V	ENST00000261839		ENSG00000128833	7604		14	3.845		HGNC	p.L331V	rs756439044	MYO5C		SNV							ENST00000559459	protein_coding	getma.org/?cm=var&var=hg19,15,52556443,G,C&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		L/V		C	high	1153/6971	1.50E-05	getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=69&re=741&var=L331V	deleterious(0)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Leu331Val,ENST00000261839,NM_018728.3;MYO5C,missense_variant,p.Leu274Val,ENST00000443683,;MYO5C,non_coding_transcript_exon_variant,,ENST00000541028,;MYO5C,missense_variant,p.Leu331Val,ENST00000559459,;MYO5C,3_prime_UTR_variant,,ENST00000560809,;MYO5C,3_prime_UTR_variant,,ENST00000558902,;							MODERATE	991/5229	L331V	MYO5C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261839	8.27E-06	CCDS42036.1			1	
PLIN4	0	LGGM	GRCh37	19	4511258	4511258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	78	8	.	.	ENST00000301286.3:c.2672C>T	p.Ala891Val	p.A891V	ENST00000301286	NM_001080400.1	891	gCt/gTt	0	1	1	UPI00001D822A	0	NA	ENST00000301286		ENSG00000167676	29393		86	2.855		HGNC	p.A891V		PLIN4		SNV							ENST00000301286	protein_coding	getma.org/?cm=var&var=hg19,19,4511258,G,A&fts=all		hmmpanther:PTHR14024,hmmpanther:PTHR14024:SF24		A/V		A	medium	2672/6341		getma.org/?cm=msa&ty=f&p=PLIN4_HUMAN&rb=752&re=951&var=A891V	tolerated(0.06)	B4DHR7_HUMAN			YES	PLIN4,missense_variant,p.Ala891Val,ENST00000301286,NM_001080400.1;							MODERATE	2672/4074	A891V	PLIN4_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000301286		CCDS45927.1			1	
GAS2	0	LGGM	GRCh37	11	22696429	22696429	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	39	8	.	.	ENST00000454584.2:c.14T>G	p.Leu5Arg	p.L5R	ENST00000454584	NM_001143830.1	5	cTg/cGg	0	1		UPI000000D98C	0	NA	ENST00000278187		ENSG00000148935	4167		47	1.245		HGNC	p.L5R		GAS2		SNV							ENST00000524701	protein_coding	getma.org/?cm=var&var=hg19,11,22696429,T,G&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF114		L/R		G	low	262/2170		getma.org/?cm=msa&ty=f&p=GAS2_HUMAN&rb=1&re=36&var=L5R	deleterious(0)	E9PRR5_HUMAN,E9PQ74_HUMAN,E9PQ37_HUMAN,E9PM28_HUMAN				GAS2,missense_variant,p.Leu5Arg,ENST00000454584,NM_001143830.1;GAS2,missense_variant,p.Leu5Arg,ENST00000278187,NM_177553.2;GAS2,missense_variant,p.Leu5Arg,ENST00000433790,NM_005256.3;GAS2,missense_variant,p.Leu5Arg,ENST00000528582,;GAS2,missense_variant,p.Leu5Arg,ENST00000532398,;GAS2,missense_variant,p.Leu5Arg,ENST00000534801,;GAS2,missense_variant,p.Leu5Arg,ENST00000533363,;GAS2,non_coding_transcript_exon_variant,,ENST00000533092,;GAS2,missense_variant,p.Leu5Arg,ENST00000524701,;							MODERATE	14/942	L5R	GAS2_HUMAN			Transcript		benign(0.003)	.	ENSP00000278187		CCDS7858.1			1	
TCERG1	0	LGGM	GRCh37	5	145859451	145859451	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	28	8	.	.	ENST00000296702.5:c.1796A>G	p.Lys599Arg	p.K599R	ENST00000296702	NM_006706.3	599	aAg/aGg	0	1	1	UPI000013E374	0	NA	ENST00000296702		ENSG00000113649	15630		36	0.69		HGNC	p.K599R		TCERG1		SNV							ENST00000296702	protein_coding	getma.org/?cm=var&var=hg19,5,145859451,A,G&fts=all		hmmpanther:PTHR15377,hmmpanther:PTHR15377:SF7		K/R		G	neutral	1834/4654		getma.org/?cm=msa&ty=f&p=TCRG1_HUMAN&rb=461&re=660&var=K599R	tolerated(0.13)				YES	TCERG1,missense_variant,p.Lys599Arg,ENST00000296702,NM_006706.3;TCERG1,missense_variant,p.Lys578Arg,ENST00000394421,NM_001040006.1;TCERG1,non_coding_transcript_exon_variant,,ENST00000515203,;TCERG1,missense_variant,p.Lys599Arg,ENST00000549332,;TCERG1,non_coding_transcript_exon_variant,,ENST00000507175,;TCERG1,non_coding_transcript_exon_variant,,ENST00000509810,;TCERG1,upstream_gene_variant,,ENST00000506524,;							MODERATE	1796/3297	K599R	TCRG1_HUMAN			Transcript		unknown(0)	.	ENSP00000296702		CCDS4282.1			1	
MYH8	0	LGGM	GRCh37	17	10304508	10304508	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	19	8	.	.	ENST00000403437.2:c.3109C>A	p.Leu1037Ile	p.L1037I	ENST00000403437	NM_002472.2	1037	Ctt/Att	0	1	1	UPI000012FB7D	0	NA	ENST00000403437		ENSG00000133020	7578		27	2.5		HGNC	p.L1037I	COSM342857	MYH8		SNV			1			1	ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10304508,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,Superfamily_domains:SSF90257		L/I		T	medium	3204/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=970&re=1070&var=L1037I	deleterious(0.02)				YES	MYH8,missense_variant,p.Leu1037Ile,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;					1		MODERATE	3109/5814	L1037I	MYH8_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000384330		CCDS11153.1			1	
GPR160	0	LGGM	GRCh37	3	169802282	169802282	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	16	8	.	.	ENST00000355897.5:c.522T>C	p.Cys174=	p.C174=	ENST00000355897	NM_014373.2	174	tgT/tgC	0	1	1	UPI0000033731	0		ENST00000355897		ENSG00000173890	23693		24			HGNC	p.C174C		GPR160		SNV							ENST00000355897	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR15573,Gene3D:1.20.1070.10		C		C		1130/2039				C9JUZ9_HUMAN,C9JTZ7_HUMAN,C9JBW1_HUMAN,C9J0J1_HUMAN			YES	GPR160,synonymous_variant,p.=,ENST00000355897,NM_014373.2;PHC3,downstream_gene_variant,,ENST00000495893,NM_024947.3;GPR160,downstream_gene_variant,,ENST00000492492,;PHC3,downstream_gene_variant,,ENST00000484068,;GPR160,downstream_gene_variant,,ENST00000473675,;GPR160,downstream_gene_variant,,ENST00000482710,;GPR160,downstream_gene_variant,,ENST00000485735,;RP11-379K17.12,upstream_gene_variant,,ENST00000599781,;							LOW	522/1017		GP160_HUMAN			Transcript			.	ENSP00000348161		CCDS3211.1			1	
PDE6H	0	LGGM	GRCh37	12	15131024	15131024	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	35	10	.	.	ENST00000266395.2:c.78C>G	p.Phe26Leu	p.F26L	ENST00000266395	NM_006205.2	26	ttC/ttG	0	1	1	UPI0000127C0C	0		ENST00000266395		ENSG00000139053	8790		45			HGNC	p.F26L		PDE6H		SNV			1				ENST00000266395	protein_coding			Gene3D:2ju4A00,Pfam_domain:PF04868,PIRSF_domain:PIRSF000969,hmmpanther:PTHR12122		F/L		G		184/747			tolerated_low_confidence(0.09)				YES	PDE6H,missense_variant,p.Phe26Leu,ENST00000266395,NM_006205.2;							MODERATE	78/252		CNCG_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000266395		CCDS8672.1			1	
UVRAG	0	LGGM	GRCh37	11	75852435	75852435	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	29	10	.	.	ENST00000356136.3:c.2078C>G	p.Pro693Arg	p.P693R	ENST00000356136	NM_003369.3	693	cCg/cGg	0	1	1	UPI0000137F03	0	NA	ENST00000356136		ENSG00000198382	12640		39	1.1		HGNC	p.P321R		UVRAG		SNV							ENST00000531818	protein_coding	getma.org/?cm=var&var=hg19,11,75852435,C,G&fts=all		hmmpanther:PTHR15157,hmmpanther:PTHR15157:SF5		P/R		G	low	2319/4123		getma.org/?cm=msa&ty=f&p=UVRAG_HUMAN&rb=471&re=697&var=P693R	deleterious_low_confidence(0)	E9PR71_HUMAN,E9PK00_HUMAN,B3KTC1_HUMAN			YES	UVRAG,missense_variant,p.Pro693Arg,ENST00000356136,NM_003369.3;UVRAG,missense_variant,p.Pro321Arg,ENST00000531818,;UVRAG,missense_variant,p.Pro592Arg,ENST00000528420,;UVRAG,missense_variant,p.Pro321Arg,ENST00000532130,;UVRAG,missense_variant,p.Pro321Arg,ENST00000533454,;UVRAG,missense_variant,p.Pro321Arg,ENST00000539288,;UVRAG,missense_variant,p.Pro249Arg,ENST00000538870,;CTD-2011F17.2,upstream_gene_variant,,ENST00000529298,;UVRAG,3_prime_UTR_variant,,ENST00000525183,;							MODERATE	2078/2100	P693R	UVRAG_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000348455		CCDS8241.1			1	
GNPTAB	0	LGGM	GRCh37	12	102151045	102151045	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	11	10	.	.	ENST00000299314.7:c.3379C>G	p.Arg1127Gly	p.R1127G	ENST00000299314	NM_024312.4	1127	Cgt/Ggt	0	1	1	UPI000004CC0C	0	NA	ENST00000299314		ENSG00000111670	29670		21	2.135		HGNC	p.R1127G		GNPTAB		SNV			1				ENST00000299314	protein_coding	getma.org/?cm=var&var=hg19,12,102151045,G,C&fts=all		hmmpanther:PTHR24045:SF0,hmmpanther:PTHR24045		R/G		C	medium	3642/5701		getma.org/?cm=msa&ty=f&p=GNPTA_HUMAN&rb=1015&re=1214&var=R1127G	deleterious(0)	Q9NV34_HUMAN,Q68CM9_HUMAN,F8VQW2_HUMAN			YES	GNPTAB,missense_variant,p.Arg1127Gly,ENST00000299314,NM_024312.4;GNPTAB,missense_variant,p.Arg65Gly,ENST00000550718,;GNPTAB,missense_variant,p.Arg44Gly,ENST00000549738,;GNPTAB,non_coding_transcript_exon_variant,,ENST00000549194,;							MODERATE	3379/3771	R1127G	GNPTA_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000299314		CCDS9088.1			1	
SH3PXD2A	0	LGGM	GRCh37	10	105362223	105362223	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	41	10	.	.	ENST00000355946.2:c.2668C>T	p.Gln890Ter	p.Q890*	ENST00000355946	NM_014631.2	890	Cag/Tag	0	1		UPI000046FCE8	0	NA	ENST00000369774		ENSG00000107957	23664		51	0		HGNC	p.Q785X		SH3PXD2A		SNV							ENST00000540321	protein_coding	getma.org/?cm=var&var=hg19,10,105362223,G,A&fts=all		hmmpanther:PTHR15706,hmmpanther:PTHR15706:SF7,Superfamily_domains:SSF50044		Q/*		A	NA	3029/11468		NA		F5GZ35_HUMAN				SH3PXD2A,stop_gained,p.Gln918Ter,ENST00000369774,;SH3PXD2A,stop_gained,p.Gln890Ter,ENST00000355946,NM_014631.2;SH3PXD2A,stop_gained,p.Gln845Ter,ENST00000420222,;SH3PXD2A,stop_gained,p.Gln785Ter,ENST00000540321,;SH3PXD2A,stop_gained,p.Gln753Ter,ENST00000538130,;SH3PXD2A,intron_variant,,ENST00000427662,;SH3PXD2A,non_coding_transcript_exon_variant,,ENST00000315994,;							HIGH	2752/3402	Q918*	SPD2A_HUMAN			Transcript			.	ENSP00000358789					1	
IARS2	0	LGGM	GRCh37	1	220310149	220310149	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	22	12	.	.	ENST00000302637.5:c.1947-2A>T		p.X649_splice	ENST00000302637	NM_018060.3			0	1		UPI00001D69E8	0		ENST00000366922		ENSG00000067704	29685		34			HGNC	-		IARS2		SNV							ENST00000366922	protein_coding							T		-/3557				F6SBX2_HUMAN				IARS2,splice_acceptor_variant,,ENST00000366922,;IARS2,splice_acceptor_variant,,ENST00000302637,NM_018060.3;snoU13,upstream_gene_variant,,ENST00000459443,;IARS2,upstream_gene_variant,,ENST00000467924,;IARS2,upstream_gene_variant,,ENST00000488777,;IARS2,downstream_gene_variant,,ENST00000490891,;							HIGH	1731/2823					Transcript			.	ENSP00000355889					1	
C17orf104	0	LGGM	GRCh37	17	42743821	42743821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	62	13	.	.	ENST00000409122.2:c.542A>T	p.Glu181Val	p.E181V	ENST00000409122	NM_001145080.2	181	gAa/gTa	0	1	1	UPI0001881A86	0	NA	ENST00000409122		ENSG00000180336	26670		75	1.04		HGNC	p.E15V		C17orf104		SNV							ENST00000456912	protein_coding	getma.org/?cm=var&var=hg19,17,42743821,A,T&fts=all				E/V		T	low	684/4604		getma.org/?cm=msa&ty=f&p=CQ104_HUMAN&rb=73&re=950&var=E181V	deleterious(0)	C9JYK8_HUMAN,C9J4A2_HUMAN			YES	C17orf104,missense_variant,p.Glu181Val,ENST00000409122,NM_001145080.2;C17orf104,missense_variant,p.Glu15Val,ENST00000409464,;C17orf104,missense_variant,p.Glu181Val,ENST00000359945,;C17orf104,missense_variant,p.Glu15Val,ENST00000432494,;C17orf104,missense_variant,p.Glu15Val,ENST00000456912,;C17orf104,downstream_gene_variant,,ENST00000425535,;C17orf104,upstream_gene_variant,,ENST00000472403,;							MODERATE	542/2859	E181V	CQ104_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386452		CCDS45703.2			1	
RFX2	0	LGGM	GRCh37	19	6026191	6026191	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	47	14	.	.	ENST00000303657.5:c.580G>A	p.Gly194Ser	p.G194S	ENST00000303657	NM_000635.3	194	Ggt/Agt	0	1	1	UPI000013D4B1	0	NA	ENST00000303657		ENSG00000087903	9983		61	-1.04		HGNC	p.G194S	rs772838904	RFX2		SNV				9.61E-05			ENST00000303657	protein_coding	getma.org/?cm=var&var=hg19,19,6026191,C,T&fts=all		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF20		G/S		T	neutral	730/3993	1.50E-05	getma.org/?cm=msa&ty=f&p=RFX2_HUMAN&rb=192&re=264&var=G194S	tolerated(0.91)	Q75MR3_HUMAN,K7ES56_HUMAN,K7EQY9_HUMAN,K7EQA0_HUMAN,K7ENC9_HUMAN,K7EJE4_HUMAN,K7EJD4_HUMAN,K7EIN5_HUMAN			YES	RFX2,missense_variant,p.Gly194Ser,ENST00000303657,NM_000635.3;RFX2,missense_variant,p.Gly194Ser,ENST00000359161,;RFX2,missense_variant,p.Gly164Ser,ENST00000586302,;RFX2,missense_variant,p.Gly18Ser,ENST00000586806,;RFX2,intron_variant,,ENST00000592546,NM_134433.2;RFX2,intron_variant,,ENST00000589742,;RFX2,intron_variant,,ENST00000587321,;RFX2,downstream_gene_variant,,ENST00000586940,;RFX2,downstream_gene_variant,,ENST00000592172,;RFX2,upstream_gene_variant,,ENST00000592337,;RFX2,non_coding_transcript_exon_variant,,ENST00000588021,;							MODERATE	580/2172	G194S	RFX2_HUMAN			Transcript		benign(0.01)	.	ENSP00000306335	1.65E-05	CCDS12157.1			1	
MYO10	0	LGGM	GRCh37	5	16675201	16675201	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	34	14	.	.	ENST00000513610.1:c.4725C>A	p.Ser1575=	p.S1575=	ENST00000513610	NM_012334.2	1575	tcC/tcA	0	1	1	UPI0001597062	0		ENST00000513610		ENSG00000145555	7593		48			HGNC	p.S1575S		MYO10		SNV							ENST00000513610	protein_coding			SMART_domains:SM00139,PROSITE_profiles:PS51016		S		T		5180/8038				E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	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,;							LOW	4725/6177		MYO10_HUMAN			Transcript			.	ENSP00000421280		CCDS54834.1			1	
TRGV8	0	LGGM	GRCh37	7	38370250	38370250	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	59	14	.	.	ENST00000390343.2:c.48T>C	p.Ser16=	p.S16=	ENST00000390343		16	agT/agC	0	1	1	UPI0000114499	0		ENST00000390343		ENSG00000211696	12294		73			HGNC	p.S16S		TRGV8		SNV							ENST00000390343	TR_V_gene			Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR19256,hmmpanther:PTHR19256:SF22,Cleavage_site_(Signalp):SignalP-noTM		S		G		162/468							YES	TRGV8,synonymous_variant,p.=,ENST00000390343,;RP11-121A8.1,upstream_gene_variant,,ENST00000609522,;TRGV7,downstream_gene_variant,,ENST00000427089,;							LOW	48/354					Transcript			.	ENSP00000374866					1	
ARID4B	0	LGGM	GRCh37	1	235345850	235345850	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	75	14	.	.	ENST00000264183.3:c.2384A>G	p.Tyr795Cys	p.Y795C	ENST00000264183	NM_016374.5	795	tAt/tGt	0	1	1	UPI00000437FE	0	NA	ENST00000264183		ENSG00000054267	15550		89	0		HGNC	p.Y795C		ARID4B		SNV							ENST00000366603	protein_coding	getma.org/?cm=var&var=hg19,1,235345850,T,C&fts=all		hmmpanther:PTHR13964:SF21,hmmpanther:PTHR13964		Y/C		C	neutral	2882/6067		getma.org/?cm=msa&ty=f&p=ARI4B_HUMAN&rb=627&re=826&var=Y795C	tolerated_low_confidence(0.11)				YES	ARID4B,missense_variant,p.Tyr795Cys,ENST00000264183,NM_016374.5;ARID4B,missense_variant,p.Tyr795Cys,ENST00000366603,NM_001206794.1;ARID4B,missense_variant,p.Tyr709Cys,ENST00000349213,NM_031371.3;ARID4B,missense_variant,p.Tyr195Cys,ENST00000444620,;ARID4B,upstream_gene_variant,,ENST00000494543,;ARID4B,missense_variant,p.Tyr795Cys,ENST00000421364,;ARID4B,missense_variant,p.Tyr109Cys,ENST00000474953,;ARID4B,non_coding_transcript_exon_variant,,ENST00000471257,;ARID4B,non_coding_transcript_exon_variant,,ENST00000491632,;							MODERATE	2384/3939	Y795C	ARI4B_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000264183		CCDS31061.1			1	
DQX1	0	LGGM	GRCh37	2	74752780	74752780	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	13	16	.	.	ENST00000404568.3:c.77T>C	p.Phe26Ser	p.F26S	ENST00000404568	NM_133637.2	26	tTt/tCt	0	1		UPI0000208758	0	getma.org/pdb.php?prot=DQX1_HUMAN&from=1&to=200&var=F26S	ENST00000393951		ENSG00000144045	20410		29	0.875		HGNC	p.F26S		DQX1		SNV							ENST00000404568	protein_coding	getma.org/?cm=var&var=hg19,2,74752780,A,G&fts=all		Superfamily_domains:SSF52540,hmmpanther:PTHR18934:SF108,hmmpanther:PTHR18934		F/S		G	low	148/2540		getma.org/?cm=msa&ty=f&p=DQX1_HUMAN&rb=1&re=200&var=F26S	deleterious(0)	C9J0W1_HUMAN				DQX1,missense_variant,p.Phe26Ser,ENST00000404568,NM_133637.2;DQX1,missense_variant,p.Phe26Ser,ENST00000393951,;DQX1,intron_variant,,ENST00000451518,;HTRA2,upstream_gene_variant,,ENST00000258080,NM_013247.4;AUP1,downstream_gene_variant,,ENST00000377526,NM_181575.3;HTRA2,upstream_gene_variant,,ENST00000437202,;HTRA2,upstream_gene_variant,,ENST00000352222,NM_145074.2;DQX1,intron_variant,,ENST00000498552,;HTRA2,upstream_gene_variant,,ENST00000467961,;HTRA2,upstream_gene_variant,,ENST00000462909,;HTRA2,upstream_gene_variant,,ENST00000484881,;DQX1,upstream_gene_variant,,ENST00000495597,;DQX1,non_coding_transcript_exon_variant,,ENST00000473508,;HTRA2,upstream_gene_variant,,ENST00000484352,;DQX1,upstream_gene_variant,,ENST00000418139,;AUP1,downstream_gene_variant,,ENST00000466894,;AUP1,downstream_gene_variant,,ENST00000463900,;AUP1,downstream_gene_variant,,ENST00000425118,;AUP1,downstream_gene_variant,,ENST00000486234,;HTRA2,upstream_gene_variant,,ENST00000482331,;AUP1,downstream_gene_variant,,ENST00000464887,;DQX1,upstream_gene_variant,,ENST00000483555,;HTRA2,upstream_gene_variant,,ENST00000465521,;AUP1,downstream_gene_variant,,ENST00000472800,;HTRA2,upstream_gene_variant,,ENST00000482205,;AUP1,downstream_gene_variant,,ENST00000462297,;							MODERATE	77/2154	F26S	DQX1_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000377523		CCDS1949.2			1	
ITSN1	0	LGGM	GRCh37	21	35107350	35107350	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	65	16	.	.	ENST00000381318.3:c.187G>A	p.Ala63Thr	p.A63T	ENST00000381318	NM_003024.2	63	Gca/Aca	0	1	1	UPI00001403C6	0	getma.org/pdb.php?prot=ITSN1_HUMAN&from=16&to=108&var=A63T	ENST00000381318		ENSG00000205726	6183		81	1.335		HGNC	p.A63T		ITSN1		SNV							ENST00000399353	protein_coding	getma.org/?cm=var&var=hg19,21,35107350,G,A&fts=all		PROSITE_profiles:PS50222,PROSITE_profiles:PS50031,hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216,Pfam_domain:PF12763,Gene3D:1.10.238.10,SMART_domains:SM00054,SMART_domains:SM00027,Superfamily_domains:SSF47473		A/T		A	low	475/17015		getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=16&re=108&var=A63T	tolerated(0.26)	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,missense_variant,p.Ala63Thr,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Ala63Thr,ENST00000381285,;ITSN1,missense_variant,p.Ala63Thr,ENST00000399367,;ITSN1,missense_variant,p.Ala63Thr,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Ala63Thr,ENST00000399352,;ITSN1,missense_variant,p.Ala63Thr,ENST00000399349,;ITSN1,missense_variant,p.Ala63Thr,ENST00000399326,;ITSN1,missense_variant,p.Ala63Thr,ENST00000437442,;ITSN1,missense_variant,p.Ala63Thr,ENST00000399355,;ITSN1,missense_variant,p.Ala63Thr,ENST00000399353,;ITSN1,missense_variant,p.Ala63Thr,ENST00000379960,;ITSN1,missense_variant,p.Ala63Thr,ENST00000399338,;ITSN1,missense_variant,p.Ala63Thr,ENST00000381283,;ITSN1,missense_variant,p.Ala63Thr,ENST00000444491,;ITSN1,missense_variant,p.Ala63Thr,ENST00000451686,;ITSN1,missense_variant,p.Ala3Thr,ENST00000456489,;AP000304.12,intron_variant,,ENST00000429238,;							MODERATE	187/5166	A63T	ITSN1_HUMAN			Transcript		unknown(0)	.	ENSP00000370719		CCDS33545.1			1	
FAM149B1	0	LGGM	GRCh37	10	74968489	74968489	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	47	16	.	.	ENST00000242505.6:c.655A>G	p.Ile219Val	p.I219V	ENST00000242505	NM_173348.1	219	Ata/Gta	0	1	1	UPI00001617A8	0	NA	ENST00000242505		ENSG00000138286	29162		63	-0.56		HGNC	p.I14V		FAM149B1		SNV							ENST00000445951	protein_coding	getma.org/?cm=var&var=hg19,10,74968489,A,G&fts=all		hmmpanther:PTHR31997,hmmpanther:PTHR31997:SF0		I/V		G	neutral	829/5408		getma.org/?cm=msa&ty=f&p=F149B_HUMAN&rb=182&re=381&var=I219V	tolerated(1)				YES	FAM149B1,missense_variant,p.Ile219Val,ENST00000242505,NM_173348.1;FAM149B1,missense_variant,p.Ile14Val,ENST00000445951,;FAM149B1,missense_variant,p.Ile160Val,ENST00000372955,;DNAJC9,intron_variant,,ENST00000469143,;FAM149B1,upstream_gene_variant,,ENST00000475829,;							MODERATE	655/1749	I219V	F149B_HUMAN			Transcript		benign(0.001)	.	ENSP00000242505		CCDS44435.1			1	
CCDC121	0	LGGM	GRCh37	2	27850236	27850236	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	67	17	.	.	ENST00000394775.3:c.917C>A	p.Ala306Asp	p.A306D	ENST00000394775	NM_001142683.2	306	gCc/gAc	0	1		UPI00001C0AF5	0	NA	ENST00000324364		ENSG00000176714	25833		84	0.69		HGNC	p.A306D		CCDC121		SNV							ENST00000394775	protein_coding	getma.org/?cm=var&var=hg19,2,27850236,G,T&fts=all		Pfam_domain:PF14988,hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF1,Low_complexity_(Seg):seg		A/D		T	neutral	612/2342		getma.org/?cm=msa&ty=f&p=CC121_HUMAN&rb=1&re=276&var=A144D	tolerated(0.06)					CCDC121,missense_variant,p.Ala144Asp,ENST00000324364,NM_024584.4;CCDC121,missense_variant,p.Ala306Asp,ENST00000394775,NM_001142683.2;ZNF512,intron_variant,,ENST00000556601,;ZNF512,downstream_gene_variant,,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,downstream_gene_variant,,ENST00000379717,;GPN1,upstream_gene_variant,,ENST00000264718,;GPN1,upstream_gene_variant,,ENST00000610189,NM_007266.3;GPN1,upstream_gene_variant,,ENST00000424214,NM_001145048.1;GPN1,upstream_gene_variant,,ENST00000515877,;GPN1,upstream_gene_variant,,ENST00000458167,NM_001145049.1;GPN1,upstream_gene_variant,,ENST00000407583,NM_001145047.1;GPN1,upstream_gene_variant,,ENST00000503738,;CCDC121,downstream_gene_variant,,ENST00000522876,;RP11-158I13.2,intron_variant,,ENST00000505973,;GPN1,upstream_gene_variant,,ENST00000461249,;GPN1,upstream_gene_variant,,ENST00000481754,;ZNF512,downstream_gene_variant,,ENST00000488055,;GPN1,upstream_gene_variant,,ENST00000478484,;GPN1,upstream_gene_variant,,ENST00000436280,;							MODERATE	431/837	A144D	CC121_HUMAN			Transcript		possibly_damaging(0.563)	.	ENSP00000339087		CCDS1759.1			1	
WDR59	0	LGGM	GRCh37	16	74927656	74927656	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	20	17	.	.	ENST00000262144.6:c.1921A>T	p.Ile641Phe	p.I641F	ENST00000262144	NM_030581.3	641	Atc/Ttc	0	1	1	UPI000019839C	0	NA	ENST00000262144		ENSG00000103091	25706		37	1.23		HGNC	p.I641F		WDR59		SNV							ENST00000262144	protein_coding	getma.org/?cm=var&var=hg19,16,74927656,T,A&fts=all		hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF96		I/F		A	low	2052/3695		getma.org/?cm=msa&ty=f&p=WDR59_HUMAN&rb=365&re=855&var=I641F	tolerated(0.54)	H3BUE9_HUMAN,H3BR95_HUMAN			YES	WDR59,missense_variant,p.Ile641Phe,ENST00000262144,NM_030581.3;WDR59,missense_variant,p.Ile210Phe,ENST00000569229,;WDR59,missense_variant,p.Ile44Phe,ENST00000563797,;WDR59,3_prime_UTR_variant,,ENST00000566924,;WDR59,non_coding_transcript_exon_variant,,ENST00000569788,;WDR59,non_coding_transcript_exon_variant,,ENST00000563381,;WDR59,non_coding_transcript_exon_variant,,ENST00000567018,;WDR59,non_coding_transcript_exon_variant,,ENST00000570070,;							MODERATE	1921/2925	I641F	WDR59_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000262144		CCDS32488.1			1	
ZNF197	0	LGGM	GRCh37	3	44685549	44685549	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	22	18	.	.	ENST00000396058.1:c.2927A>C	p.His976Pro	p.H976P	ENST00000396058		976	cAt/cCt	0	1		UPI000013C317	0	getma.org/pdb.php?prot=ZN197_HUMAN&from=972&to=997&var=H976P	ENST00000344387		ENSG00000186448	12988		40	3.835		HGNC	p.H976P		ZNF197		SNV							ENST00000396058	protein_coding	getma.org/?cm=var&var=hg19,3,44685549,A,C&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/P		C	high	3112/3275		getma.org/?cm=msa&ty=f&p=ZN197_HUMAN&rb=952&re=1017&var=H976P	deleterious(0)	C9JQH5_HUMAN				ZNF197,missense_variant,p.His976Pro,ENST00000396058,;ZNF197,missense_variant,p.His976Pro,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,;							MODERATE	2927/3090	H976P	ZN197_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000345809		CCDS2717.1			1	
HPS6	0	LGGM	GRCh37	10	103826568	103826568	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	19	19	.	.	ENST00000299238.5:c.1337T>G	p.Leu446Arg	p.L446R	ENST00000299238	NM_024747.5	446	cTg/cGg	0	1	1	UPI000000D7EB	0	NA	ENST00000299238		ENSG00000166189	18817		38	0.55		HGNC	p.L446R		HPS6		SNV			1				ENST00000299238	protein_coding	getma.org/?cm=var&var=hg19,10,103826568,T,G&fts=all		hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476		L/R		G	neutral	1422/2646		getma.org/?cm=msa&ty=f&p=HPS6_HUMAN&rb=1&re=771&var=L446R	tolerated(0.15)				YES	HPS6,missense_variant,p.Leu446Arg,ENST00000299238,NM_024747.5;							MODERATE	1337/2328	L446R	HPS6_HUMAN			Transcript		benign(0.006)	.	ENSP00000299238		CCDS7527.1			1	
HPS6	0	LGGM	GRCh37	10	103826567	103826567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	18	19	.	.	ENST00000299238.5:c.1336C>A	p.Leu446Met	p.L446M	ENST00000299238	NM_024747.5	446	Ctg/Atg	0	1	1	UPI000000D7EB	0	NA	ENST00000299238		ENSG00000166189	18817		37	1.24		HGNC	p.L446M		HPS6		SNV			1				ENST00000299238	protein_coding	getma.org/?cm=var&var=hg19,10,103826567,C,A&fts=all		hmmpanther:PTHR14696:SF1,hmmpanther:PTHR14696,PIRSF_domain:PIRSF037476		L/M		A	low	1421/2646		getma.org/?cm=msa&ty=f&p=HPS6_HUMAN&rb=1&re=771&var=L446M	deleterious(0.03)				YES	HPS6,missense_variant,p.Leu446Met,ENST00000299238,NM_024747.5;							MODERATE	1336/2328	L446M	HPS6_HUMAN			Transcript		benign(0.028)	.	ENSP00000299238		CCDS7527.1			1	
FAT2	0	LGGM	GRCh37	5	150901136	150901136	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	8	20	.	.	ENST00000261800.5:c.11018C>T	p.Pro3673Leu	p.P3673L	ENST00000261800	NM_001447.2	3673	cCt/cTt	0	1	1	UPI0000055B22	0	NA	ENST00000261800		ENSG00000086570	3596		28	2.16		HGNC	p.P3673L		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150901136,G,A&fts=all		hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37		P/L		A	medium	11031/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=3638&re=3775&var=P3673L					YES	FAT2,missense_variant,p.Pro3673Leu,ENST00000261800,NM_001447.2;FAT2,missense_variant,p.Pro532Leu,ENST00000520200,;							MODERATE	11018/13050	P3673L	FAT2_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000261800		CCDS4317.1			1	
GPR158	0	LGGM	GRCh37	10	25839912	25839912	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	24	20	.	.	ENST00000376351.3:c.1412T>A	p.Ile471Asn	p.I471N	ENST00000376351	NM_020752.2	471	aTt/aAt	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		44	2.56		HGNC	p.I471N		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25839912,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546,Pfam_domain:PF00003		I/N		A	medium	1771/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=426&re=669&var=I471N	deleterious(0)				YES	GPR158,missense_variant,p.Ile471Asn,ENST00000376351,NM_020752.2;							MODERATE	1412/3648	I471N	GP158_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000365529		CCDS31166.1			1	
MTERFD2	0	LGGM	GRCh37	2	242039267	242039267	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	2	20	.	.	ENST00000391980.2:c.64A>G	p.Met22Val	p.M22V	ENST00000391980	NM_182501.3	22	Atg/Gtg	0	1		UPI0000209875	0	NA	ENST00000241527		ENSG00000122085	28785		22	-0.805		HGNC	p.M15V		MTERFD2		SNV							ENST00000424798	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,242039267,T,C&fts=all				M/V		C	neutral	86/4529		getma.org/?cm=msa&ty=f&p=MTER2_HUMAN&rb=1&re=68&var=M22V	tolerated(0.86)	C9JX74_HUMAN,B4DFP7_HUMAN				MTERFD2,start_lost,p.Met1?,ENST00000434791,;MTERFD2,missense_variant,p.Met22Val,ENST00000391980,NM_182501.3;MTERFD2,missense_variant,p.Met22Val,ENST00000495694,;MTERFD2,missense_variant,p.Met22Val,ENST00000407095,;MTERFD2,missense_variant,p.Met15Val,ENST00000424798,;MTERFD2,missense_variant,p.Met22Val,ENST00000401626,;MTERFD2,intron_variant,,ENST00000406593,;MTERFD2,intron_variant,,ENST00000439144,;SNED1,downstream_gene_variant,,ENST00000310397,NM_001080437.1;SNED1,downstream_gene_variant,,ENST00000405547,;MTERFD2,upstream_gene_variant,,ENST00000414146,;MTERFD2,intron_variant,,ENST00000464344,;MTERFD2,intron_variant,,ENST00000455202,;MTERFD2,intron_variant,,ENST00000480298,;MTERFD2,intron_variant,,ENST00000493169,;MTERFD2,upstream_gene_variant,,ENST00000488567,;MTERFD2,missense_variant,p.Met22Val,ENST00000241527,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000475860,;MTERFD2,intron_variant,,ENST00000476564,;MTERFD2,intron_variant,,ENST00000460915,;MTERFD2,upstream_gene_variant,,ENST00000496878,;							MODERATE	64/1146	M22V	MTER2_HUMAN			Transcript		benign(0)	.	ENSP00000241527		CCDS2544.1			1	
LHX4	0	LGGM	GRCh37	1	180243491	180243491	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	127	21	.	.	ENST00000263726.2:c.950T>C	p.Ile317Thr	p.I317T	ENST00000263726	NM_033343.3	317	aTa/aCa	0	1	1	UPI000007340D	0	NA	ENST00000263726		ENSG00000121454	21734		148	1.61		HGNC	p.I317T		LHX4		SNV			1				ENST00000263726	protein_coding	getma.org/?cm=var&var=hg19,1,180243491,T,C&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF15,Low_complexity_(Seg):seg		I/T		C	low	1194/7083		getma.org/?cm=msa&ty=f&p=LHX4_HUMAN&rb=244&re=388&var=I317T	tolerated(0.13)	Q96JP7_HUMAN,Q5RLJ3_HUMAN,Q5RLJ2_HUMAN,Q5RLJ1_HUMAN			YES	LHX4,missense_variant,p.Ile317Thr,ENST00000263726,NM_033343.3;RP5-1180C10.2,intron_variant,,ENST00000415414,;RP5-1180C10.2,intron_variant,,ENST00000440959,;ACBD6,downstream_gene_variant,,ENST00000496993,;LHX4,downstream_gene_variant,,ENST00000561113,;							MODERATE	950/1173	I317T	LHX4_HUMAN			Transcript		benign(0.227)	.	ENSP00000263726		CCDS1338.1			1	
KCNU1	0	LGGM	GRCh37	8	36692335	36692335	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	45	22	.	.	ENST00000399881.3:c.1244C>G	p.Ala415Gly	p.A415G	ENST00000399881	NM_001031836.2	415	gCc/gGc	0	1	1	UPI0000F079EF	0	getma.org/pdb.php?prot=KCNU1_HUMAN&from=339&to=482&var=A415G	ENST00000399881		ENSG00000215262	18867		67	2.415		HGNC	p.A415G		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36692335,C,G&fts=all		Prints_domain:PR01449,Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		A/G		G	medium	1281/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=339&re=482&var=A415G	deleterious(0)				YES	KCNU1,missense_variant,p.Ala415Gly,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Ala415Gly,ENST00000522372,;							MODERATE	1244/3450	A415G	KCNU1_HUMAN			Transcript		possibly_damaging(0.834)	.	ENSP00000382770		CCDS55220.1			1	
AP5Z1	0	LGGM	GRCh37	7	4825931	4825931	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	45	22	.	.	ENST00000348624.4:c.1183A>G	p.Arg395Gly	p.R395G	ENST00000348624	NM_014855.2	395	Agg/Ggg	0	1	1	UPI00003E5903	0	NA	ENST00000348624		ENSG00000242802	22197		67	1.04		HGNC	p.R395G		AP5Z1		SNV			1				ENST00000348624	protein_coding	getma.org/?cm=var&var=hg19,7,4825931,A,G&fts=all		hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Pfam_domain:PF14764		R/G		G	low	1277/2901		getma.org/?cm=msa&ty=f&p=AP5Z1_HUMAN&rb=201&re=400&var=R395G	tolerated(0.1)	A4D1Z4_HUMAN			YES	AP5Z1,missense_variant,p.Arg395Gly,ENST00000348624,NM_014855.2;AP5Z1,missense_variant,p.Arg395Gly,ENST00000401897,;MIR4656,downstream_gene_variant,,ENST00000579503,;AP5Z1,upstream_gene_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,upstream_gene_variant,,ENST00000469614,;AP5Z1,downstream_gene_variant,,ENST00000491375,;AP5Z1,upstream_gene_variant,,ENST00000477454,;							MODERATE	1183/2424	R395G	AP5Z1_HUMAN			Transcript		benign(0.008)	.	ENSP00000297562		CCDS47528.1			1	
KIAA0586	0	LGGM	GRCh37	14	58895152	58895152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	80	23	.	.	ENST00000354386.6:c.206C>A	p.Thr69Lys	p.T69K	ENST00000354386	NM_001244189.1	69	aCg/aAg	0	1	1	UPI0001AE6998	0		ENST00000354386		ENSG00000100578	19960		103			HGNC	p.T42K	COSM344307,COSM344306	KIAA0586		SNV						1,1	ENST00000556134	protein_coding			hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2		T/K		A		450/5226			deleterious(0.01)				YES	KIAA0586,missense_variant,p.Thr69Lys,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Thr42Lys,ENST00000556134,NM_001244190.1,NM_001244193.1;KIAA0586,missense_variant,p.Thr57Lys,ENST00000261244,NM_014749.3;KIAA0586,intron_variant,,ENST00000423743,NM_001244192.1,NM_001244191.1;KIAA0586,intron_variant,,ENST00000555833,;KIAA0586,intron_variant,,ENST00000554463,;TIMM9,upstream_gene_variant,,ENST00000395159,NM_012460.2;TIMM9,upstream_gene_variant,,ENST00000555593,;TIMM9,upstream_gene_variant,,ENST00000556007,;TIMM9,upstream_gene_variant,,ENST00000555404,;TIMM9,upstream_gene_variant,,ENST00000555097,;RP11-517O13.1,downstream_gene_variant,,ENST00000556734,;KIAA0586,intron_variant,,ENST00000557192,;TIMM9,upstream_gene_variant,,ENST00000216463,;TIMM9,upstream_gene_variant,,ENST00000556367,;TIMM9,upstream_gene_variant,,ENST00000557397,;TIMM9,upstream_gene_variant,,ENST00000555930,;KIAA0586,intron_variant,,ENST00000555203,;					1,1		MODERATE	206/4935		TALD3_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000346359		CCDS58320.1			1	
GPR32	0	LGGM	GRCh37	19	51274271	51274271	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	65	24	.	.	ENST00000270590.4:c.414C>A	p.Asp138Glu	p.D138E	ENST00000270590	NM_001506.2	138	gaC/gaA	0	1	1	UPI000005045C	0	getma.org/pdb.php?prot=GPR32_HUMAN&from=60&to=316&var=D138E	ENST00000270590		ENSG00000142511	4487		89	2.545		HGNC	p.D138E		GPR32		SNV							ENST00000270590	protein_coding	getma.org/?cm=var&var=hg19,19,51274271,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24225,hmmpanther:PTHR24225:SF27,Superfamily_domains:SSF81321		D/E		A	medium	551/1269		getma.org/?cm=msa&ty=f&p=GPR32_HUMAN&rb=60&re=316&var=D138E	deleterious(0)	H9NIL6_HUMAN			YES	GPR32,missense_variant,p.Asp138Glu,ENST00000270590,NM_001506.2;							MODERATE	414/1071	D138E	GPR32_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000270590		CCDS12801.1			1	
LRRC58	0	LGGM	GRCh37	3	120054673	120054673	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	70	25	.	.	ENST00000295628.3:c.628C>T	p.Gln210Ter	p.Q210*	ENST00000295628	NM_001099678.1	210	Cag/Tag	0	1	1	UPI00001C1DEE	0	NA	ENST00000295628		ENSG00000163428	26968		95	0		HGNC	p.Q210X		LRRC58		SNV							ENST00000295628	protein_coding	getma.org/?cm=var&var=hg19,3,120054673,G,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF408,hmmpanther:PTHR23155,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058		Q/*		A	NA	724/7903		NA					YES	LRRC58,stop_gained,p.Gln210Ter,ENST00000295628,NM_001099678.1;							HIGH	628/1116	Q210*	LRC58_HUMAN			Transcript			.	ENSP00000295628		CCDS46892.1			1	
CACNA1B	0	LGGM	GRCh37	9	141016451	141016451	+	stop_lost	Nonstop_Mutation	SNP	G	G	T	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	1	25	.	.	ENST00000371372.1:c.7020G>T	p.Ter2340TyrextTer38	p.*2340Yext*38	ENST00000371372	NM_001243812.1	2340	taG/taT	0	1	1	UPI0000127267	0		ENST00000371372		ENSG00000148408	1389		26			HGNC	p.X2338Y		CACNA1B		SNV							ENST00000371363	protein_coding					*/Y		T		7165/9790				Q9HBI3_HUMAN,Q9HBH4_HUMAN,Q9HBG3_HUMAN,Q9HBG2_HUMAN,Q9HAT5_HUMAN,Q9HAT4_HUMAN			YES	CACNA1B,stop_lost,p.Ter1534TyrextTer38,ENST00000277549,;CACNA1B,stop_lost,p.Ter2340TyrextTer38,ENST00000371372,NM_001243812.1,NM_000718.3;CACNA1B,stop_lost,p.Ter2338TyrextTer38,ENST00000371363,;CACNA1B,stop_lost,p.Ter2341TyrextTer38,ENST00000371355,;CACNA1B,stop_lost,p.Ter2339TyrextTer38,ENST00000371357,;CACNA1B,3_prime_UTR_variant,,ENST00000277551,;							HIGH	7020/7020		CAC1B_HUMAN			Transcript			.	ENSP00000360423		CCDS59522.1			1	
AP5Z1	0	LGGM	GRCh37	7	4830141	4830141	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	1	26	.	.	ENST00000348624.4:c.1857G>A	p.Val619=	p.V619=	ENST00000348624	NM_014855.2	619	gtG/gtA	0	1	1	UPI00003E5903	0		ENST00000348624		ENSG00000242802	22197		27			HGNC	p.V619V		AP5Z1		SNV			1				ENST00000348624	protein_coding			hmmpanther:PTHR12181:SF29,hmmpanther:PTHR12181,Pfam_domain:PF14764,Gene3D:1.25.10.10		V		A		1951/2901				A4D1Z4_HUMAN			YES	AP5Z1,synonymous_variant,p.=,ENST00000348624,NM_014855.2;AP5Z1,downstream_gene_variant,,ENST00000401897,;MIR4656,upstream_gene_variant,,ENST00000579503,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000490487,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000496303,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000477680,;AP5Z1,non_coding_transcript_exon_variant,,ENST00000469614,;AP5Z1,downstream_gene_variant,,ENST00000477454,;							LOW	1857/2424		AP5Z1_HUMAN			Transcript			.	ENSP00000297562		CCDS47528.1			1	
RIMBP2	0	LGGM	GRCh37	12	130919315	130919315	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	23	26	.	.	ENST00000261655.4:c.2166G>C	p.Val722=	p.V722=	ENST00000261655	NM_015347.4	722	gtG/gtC	0	1	1	UPI00001C1F42	0		ENST00000261655		ENSG00000060709	30339		49			HGNC	p.V630V		RIMBP2		SNV							ENST00000535703	protein_coding			hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18		V		G		2330/6321				F5H3X3_HUMAN			YES	RIMBP2,synonymous_variant,p.=,ENST00000261655,NM_015347.4;RIMBP2,synonymous_variant,p.=,ENST00000536002,;RIMBP2,synonymous_variant,p.=,ENST00000535703,;							LOW	2166/3159		RIMB2_HUMAN			Transcript			.	ENSP00000261655		CCDS31925.1			1	
SVEP1	0	LGGM	GRCh37	9	113265488	113265488	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	53	27	.	.	ENST00000401783.2:c.1313G>T	p.Cys438Phe	p.C438F	ENST00000401783	NM_153366.3	438	tGt/tTt	0	1		UPI0000458920	0	getma.org/pdb.php?prot=SVEP1_HUMAN&from=438&to=493&var=C438F	ENST00000374469		ENSG00000165124	15985		80	4.385		HGNC	p.C438F		SVEP1		SNV							ENST00000401783	protein_coding	getma.org/?cm=var&var=hg19,9,113265488,C,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535,Superfamily_domains:SSF57535		C/F		A	high	1508/12194		getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=438&re=493&var=C438F	deleterious(0)					SVEP1,missense_variant,p.Cys438Phe,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Cys415Phe,ENST00000374469,;SVEP1,missense_variant,p.Cys438Phe,ENST00000302728,;SVEP1,missense_variant,p.Cys415Phe,ENST00000374461,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;							MODERATE	1244/10647	C438F				Transcript		probably_damaging(1)	.	ENSP00000363593					1	
LYST	0	LGGM	GRCh37	1	235827829	235827829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	42	28	.	.	ENST00000389794.3:c.11131T>A	p.Ser3711Thr	p.S3711T	ENST00000389794		3711	Tcc/Acc	0	1		UPI000020509E	0	getma.org/pdb.php?prot=LYST_HUMAN&from=3645&to=3801&var=S3711T	ENST00000389793		ENSG00000143669	1968		70	2.675		HGNC	p.S3711T		LYST		SNV			1				ENST00000389794	protein_coding	getma.org/?cm=var&var=hg19,1,235827829,A,T&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60,Superfamily_domains:SSF50978		S/T		T	medium	11306/13471		getma.org/?cm=msa&ty=f&p=LYST_HUMAN&rb=3645&re=3801&var=S3711T	deleterious(0)					LYST,missense_variant,p.Ser3711Thr,ENST00000389794,;LYST,missense_variant,p.Ser3711Thr,ENST00000389793,NM_000081.3;LYST,non_coding_transcript_exon_variant,,ENST00000473037,;							MODERATE	11131/11406	S3711T	LYST_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000374443		CCDS31062.1			1	
PALM2-AKAP2	0	LGGM	GRCh37	9	112900708	112900708	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	1	29	.	.	ENST00000374530.3:c.2884G>A	p.Glu962Lys	p.E962K	ENST00000374530	NM_007203.4	962	Gaa/Aaa	0	1	1	UPI0000125755	0	NA	ENST00000374530		ENSG00000157654	33529		30	1.955		HGNC	p.E962K	rs775787860	PALM2-AKAP2		SNV							ENST00000302798	protein_coding	getma.org/?cm=var&var=hg19,9,112900708,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10,Pfam_domain:PF15304		E/K		A	medium	3064/7507	0.00012	getma.org/?cm=msa&ty=f&p=AKAP2_HUMAN&rb=583&re=782&var=E731K	tolerated(0.14)				YES	PALM2-AKAP2,missense_variant,p.Glu962Lys,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,missense_variant,p.Glu820Lys,ENST00000374525,NM_001004065.4;PALM2-AKAP2,missense_variant,p.Glu962Lys,ENST00000302798,;AKAP2,missense_variant,p.Glu820Lys,ENST00000434623,NM_001198656.1;AKAP2,missense_variant,p.Glu962Lys,ENST00000555236,;AKAP2,missense_variant,p.Glu962Lys,ENST00000510514,;AKAP2,missense_variant,p.Glu731Lys,ENST00000259318,NM_001136562.2;AKAP2,downstream_gene_variant,,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,non_coding_transcript_exon_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;							MODERATE	2884/3312	E731K				Transcript		probably_damaging(0.998)	.	ENSP00000363654	6.59E-05	CCDS35100.1			1	
GCNT2	0	LGGM	GRCh37	6	10586303	10586303	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H092789	H092789N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	105	33	.	.	ENST00000379597.3:c.926-35281G>C		*309*	ENST00000379597				0	1	1	UPI000006E705	0	NA	ENST00000379597		ENSG00000111846	4204		138	1.445		HGNC	p.L27F		GCNT2		SNV			1				ENST00000265012	protein_coding	getma.org/?cm=var&var=hg19,6,10586303,G,C&fts=all						C	low	-/4525		getma.org/?cm=msa&ty=f&p=GNT2C_HUMAN&rb=1&re=96&var=L27F		Q8N7N7_HUMAN,Q08M29_HUMAN			YES	GCNT2,missense_variant,p.Leu27Phe,ENST00000265012,NM_145655.3;GCNT2,intron_variant,,ENST00000379597,;GCNT2,intron_variant,,ENST00000316170,NM_001491.2;GCNT2,intron_variant,,ENST00000495262,NM_145649.4;GCNT2,intron_variant,,ENST00000410107,;GCNT2,intron_variant,,ENST00000397423,;GCNT2,intron_variant,,ENST00000489225,;GCNT2,intron_variant,,ENST00000459872,;GCNT2,intron_variant,,ENST00000485764,;GCNT2,intron_variant,,ENST00000474518,;GCNT2,intron_variant,,ENST00000475577,;GCNT2,intron_variant,,ENST00000489819,;GCNT2,intron_variant,,ENST00000461400,;							MODIFIER	-/1209	L27F	GNT2A_HUMAN			Transcript			.	ENSP00000368917		CCDS34338.1			1	
POLR1B	0	LGGM	GRCh37	2	113330171	113330171	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	34	34	.	.	ENST00000263331.5:c.2107T>C	p.Tyr703His	p.Y703H	ENST00000263331	NM_019014.4	703	Tat/Cat	0	1	1	UPI00001B6B03	0	getma.org/pdb.php?prot=RPA2_HUMAN&from=668&to=1031&var=Y703H	ENST00000263331		ENSG00000125630	20454		68	1.775		HGNC	p.Y647H		POLR1B		SNV							ENST00000417433	protein_coding	getma.org/?cm=var&var=hg19,2,113330171,T,C&fts=all		hmmpanther:PTHR20856:SF5,hmmpanther:PTHR20856,Gene3D:2a6hC02,Pfam_domain:PF00562,Superfamily_domains:SSF64484		Y/H		C	low	2687/4558		getma.org/?cm=msa&ty=f&p=RPA2_HUMAN&rb=668&re=1031&var=Y703H	deleterious(0.03)	Q9BSR4_HUMAN,Q6DKI9_HUMAN,F5H643_HUMAN,C9JS83_HUMAN,C9JJG2_HUMAN,B7Z1W6_HUMAN			YES	POLR1B,missense_variant,p.Tyr703His,ENST00000263331,NM_019014.4;POLR1B,missense_variant,p.Tyr520His,ENST00000409894,NM_001282774.1;POLR1B,missense_variant,p.Tyr741His,ENST00000541869,NM_001282772.1;POLR1B,missense_variant,p.Tyr647His,ENST00000417433,NM_001137604.1;POLR1B,missense_variant,p.Tyr492His,ENST00000537335,NM_001282776.1;POLR1B,intron_variant,,ENST00000458012,;POLR1B,3_prime_UTR_variant,,ENST00000333990,NM_001282777.1;POLR1B,3_prime_UTR_variant,,ENST00000448770,;POLR1B,non_coding_transcript_exon_variant,,ENST00000484574,;							MODERATE	2107/3408	Y703H	RPA2_HUMAN			Transcript		possibly_damaging(0.656)	.	ENSP00000263331		CCDS2097.1			1	
ADH5	0	LGGM	GRCh37	4	99996115	99996115	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	55	36	.	.	ENST00000296412.8:c.911G>A	p.Arg304His	p.R304H	ENST00000296412	NM_000671.3	304	cGt/cAt	0	1	1	UPI0000000DE6	0	getma.org/pdb.php?prot=ADHX_HUMAN&from=202&to=336&var=R304H	ENST00000296412		ENSG00000197894	253		91	1.31		HGNC	p.R304H		ADH5		SNV							ENST00000296412	protein_coding	getma.org/?cm=var&var=hg19,4,99996115,C,T&fts=all		Gene3D:3.40.50.720,Pfam_domain:PF00107,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF396,Superfamily_domains:SSF51735,TIGRFAM_domain:TIGR02818		R/H		T	low	962/2612		getma.org/?cm=msa&ty=f&p=ADHX_HUMAN&rb=202&re=336&var=R304H	deleterious(0.03)	Q6IRT1_HUMAN,D6RFE4_HUMAN			YES	ADH5,missense_variant,p.Arg304His,ENST00000296412,NM_000671.3;ADH5,downstream_gene_variant,,ENST00000503130,;ADH5,downstream_gene_variant,,ENST00000512991,;ADH5,downstream_gene_variant,,ENST00000512604,;ADH5,3_prime_UTR_variant,,ENST00000512659,;ADH5,non_coding_transcript_exon_variant,,ENST00000512621,;ADH5,downstream_gene_variant,,ENST00000508511,;ADH5,downstream_gene_variant,,ENST00000502590,;ADH5,downstream_gene_variant,,ENST00000505652,;							MODERATE	911/1125	R304H	ADHX_HUMAN			Transcript		benign(0.006)	.	ENSP00000296412		CCDS47111.1			1	
PPP1R3A	0	LGGM	GRCh37	7	113558865	113558865	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	21	36	.	.	ENST00000284601.3:c.187A>C	p.Arg63=	p.R63=	ENST00000284601	NM_002711.3	63	Aga/Cga	0	1	1	UPI000013DDAA	0		ENST00000284601		ENSG00000154415	9291		57			HGNC	p.R63R		PPP1R3A		SNV			1				ENST00000284601	protein_coding			hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2		R		G		256/4384				C9JZB3_HUMAN			YES	PPP1R3A,synonymous_variant,p.=,ENST00000284601,NM_002711.3;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,intron_variant,,ENST00000284602,;							LOW	187/3369		PPR3A_HUMAN			Transcript			.	ENSP00000284601		CCDS5759.1			1	
LAMB4	0	LGGM	GRCh37	7	107677945	107677945	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	78	37	.	.	ENST00000388781.3:c.4567G>C	p.Val1523Leu	p.V1523L	ENST00000388781	NM_007356.2	1523	Gtc/Ctc	0	1		UPI0000198CD5	0	NA	ENST00000205386		ENSG00000091128	6491		115	-0.345		HGNC	p.V1523L		LAMB4		SNV							ENST00000388780	protein_coding	getma.org/?cm=var&var=hg19,7,107677945,C,G&fts=all				V/L		G	neutral	4647/5857		getma.org/?cm=msa&ty=f&p=LAMB4_HUMAN&rb=1234&re=1759&var=V1523L	deleterious(0.02)	C9JM08_HUMAN				LAMB4,missense_variant,p.Val1523Leu,ENST00000388781,NM_007356.2;LAMB4,missense_variant,p.Val1523Leu,ENST00000205386,;LAMB4,missense_variant,p.Val1523Leu,ENST00000388780,;LAMB4,missense_variant,p.Val549Leu,ENST00000422975,;AC005048.1,upstream_gene_variant,,ENST00000401266,;LAMB4,non_coding_transcript_exon_variant,,ENST00000475572,;LAMB4,upstream_gene_variant,,ENST00000483484,;							MODERATE	4567/5286	V1523L	LAMB4_HUMAN			Transcript		benign(0)	.	ENSP00000205386		CCDS34732.1			1	
OR51H1P	0	LGGM	GRCh37	11	4880989	4880989	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	57	38	.	.	ENST00000322059.1:c.806A>C	p.Glu269Ala	p.E269A	ENST00000322059		269	gAg/gCg	0	1	1	UPI0000061F03	0		ENST00000322059		ENSG00000176904	14833		95			HGNC	p.E269A		OR51H1P		SNV							ENST00000322059	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF53,Superfamily_domains:SSF81321		E/A		G		806/909			deleterious(0.01)				YES	OR51H1P,missense_variant,p.Glu269Ala,ENST00000322059,;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	806/909		O51H1_HUMAN			Transcript		benign(0.074)	.	ENSP00000322724					1	
KLHL6	0	LGGM	GRCh37	3	183217433	183217433	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	21	39	.	.	ENST00000341319.3:c.1092T>A	p.Asn364Lys	p.N364K	ENST00000341319	NM_130446.2	364	aaT/aaA	0	1	1	UPI0000169CB9	0	NA	ENST00000341319		ENSG00000172578	18653		60	1.61		HGNC	p.N353K		KLHL6		SNV							ENST00000468734	protein_coding	getma.org/?cm=var&var=hg19,3,183217433,A,T&fts=all		hmmpanther:PTHR24411:SF4,hmmpanther:PTHR24411,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		N/K		T	low	1128/6298		getma.org/?cm=msa&ty=f&p=KLHL6_HUMAN&rb=277&re=409&var=N364K	tolerated(0.19)				YES	KLHL6,missense_variant,p.Asn364Lys,ENST00000341319,NM_130446.2;KLHL6,missense_variant,p.Asn353Lys,ENST00000468734,;KLHL6,intron_variant,,ENST00000489245,;							MODERATE	1092/1866	N364K	KLHL6_HUMAN			Transcript		benign(0.028)	.	ENSP00000341342		CCDS3245.2			1	
PRKAB2	0	LGGM	GRCh37	1	146639373	146639373	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	274	42	.	.	ENST00000254101.3:c.296G>A	p.Trp99Ter	p.W99*	ENST00000254101	NM_005399.4	99	tGg/tAg	0	1	1	UPI00001250AF	0	NA	ENST00000254101		ENSG00000131791	9379		316	0		HGNC	p.W99X		PRKAB2		SNV							ENST00000254101	protein_coding	getma.org/?cm=var&var=hg19,1,146639373,C,T&fts=all		hmmpanther:PTHR10343,hmmpanther:PTHR10343:SF43,Superfamily_domains:SSF81296		W/*		T	NA	435/5417		NA					YES	PRKAB2,stop_gained,p.Trp99Ter,ENST00000254101,NM_005399.4;PRKAB2,intron_variant,,ENST00000425272,;RP11-337C18.8,upstream_gene_variant,,ENST00000440377,;PRKAB2,intron_variant,,ENST00000474939,;							HIGH	296/819	W99*	AAKB2_HUMAN			Transcript			.	ENSP00000254101		CCDS925.1			1	
PCDHA1	0	LGGM	GRCh37	5	140166122	140166122	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092789	H092789N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	48	46	.	.	ENST00000504120.2:c.247A>G	p.Ile83Val	p.I83V	ENST00000504120	NM_018900.2	83	Att/Gtt	0	1	1	UPI00001273C7	0	getma.org/pdb.php?prot=PCDA1_HUMAN&from=29&to=112&var=I83V	ENST00000504120		ENSG00000204970	8663		94	1.225		HGNC	p.I83V		PCDHA1		SNV							ENST00000504120	protein_coding	getma.org/?cm=var&var=hg19,5,140166122,A,G&fts=all		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		I/V		G	low	247/5260		getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=29&re=112&var=I83V	tolerated_low_confidence(0.06)				YES	PCDHA1,missense_variant,p.Ile83Val,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Ile83Val,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Ile83Val,ENST00000378133,NM_031410.1;							MODERATE	247/2853	I83V	PCDA1_HUMAN			Transcript		benign(0.201)	.	ENSP00000420840		CCDS54913.1			1	
CD28	0	LGGM	GRCh37	2	204594437	204594437	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092789	H092789N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	47	48	.	.	ENST00000324106.8:c.476T>C	p.Val159Ala	p.V159A	ENST00000324106	NM_006139.3	159	gTt/gCt	0	1	1	UPI0000043F4D	0	NA	ENST00000324106		ENSG00000178562	1653		95	1.35		HGNC	p.V173A		CD28		SNV							ENST00000458610	protein_coding	getma.org/?cm=var&var=hg19,2,204594437,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11494:SF7,hmmpanther:PTHR11494		V/A		C	low	625/4812		getma.org/?cm=msa&ty=f&p=CD28_HUMAN&rb=137&re=220&var=V159A	tolerated(0.34)				YES	CD28,missense_variant,p.Val159Ala,ENST00000324106,NM_006139.3,NM_001243077.1;CD28,missense_variant,p.Val75Ala,ENST00000374481,;CD28,missense_variant,p.Val173Ala,ENST00000458610,;CD28,missense_variant,p.Val40Ala,ENST00000374478,NM_001243078.1;							MODERATE	476/663	V159A	CD28_HUMAN			Transcript		benign(0.002)	.	ENSP00000324890		CCDS2361.1			1	
OR2A7	0	LGGM	GRCh37	7	143955918	143955918	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	183	50	.	.	ENST00000493325.1:c.804G>A	p.Glu268=	p.E268=	ENST00000493325	NM_001005328.1	268	gaG/gaA	0	1	1	UPI00000373F5	0		ENST00000493325		ENSG00000243896	8234		233			HGNC	p.E268E		OR2A7		SNV							ENST00000493325	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF135,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		E		T		898/1116							YES	OR2A7,synonymous_variant,p.=,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,;							LOW	804/933		OR2A7_HUMAN			Transcript			.	ENSP00000420502		CCDS55177.1			1	
KIAA0586	0	LGGM	GRCh37	14	58949321	58949321	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092789	H092789N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092789N.bam, H092789T.bam	Illumina HiSeq	29	69	.	.	ENST00000354386.6:c.3194C>G	p.Ala1065Gly	p.A1065G	ENST00000354386	NM_001244189.1	1065	gCt/gGt	0	1	1	UPI0001AE6998	0	NA	ENST00000354386		ENSG00000100578	19960		98	2.34		HGNC	p.A997G		KIAA0586		SNV							ENST00000556134	protein_coding	getma.org/?cm=var&var=hg19,14,58949321,C,G&fts=all		Pfam_domain:PF15324,hmmpanther:PTHR15721,hmmpanther:PTHR15721:SF2		A/G		G	medium	3438/5226		getma.org/?cm=msa&ty=f&p=F5GWA3_HUMAN&rb=801&re=1000&var=A872G	deleterious(0)				YES	KIAA0586,missense_variant,p.Ala968Gly,ENST00000423743,NM_001244192.1,NM_001244191.1;KIAA0586,missense_variant,p.Ala1065Gly,ENST00000354386,NM_001244189.1;KIAA0586,missense_variant,p.Ala997Gly,ENST00000556134,NM_001244190.1,NM_001244193.1;KIAA0586,missense_variant,p.Ala936Gly,ENST00000261244,NM_014749.3;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,;							MODERATE	3194/4935	A872G	TALD3_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000346359		CCDS58320.1			1	
C7orf60	0	LGGM	GRCh37	7	112462297	112462297	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	36	3	.	.	ENST00000297145.4:c.720G>T	p.Val240=	p.V240=	ENST00000297145	NM_152556.2	240	gtG/gtT	0	1	1	UPI000020F946	0		ENST00000297145		ENSG00000164603	26475		39			HGNC	p.V240V		C7orf60		SNV							ENST00000297145	protein_coding			Low_complexity_(Seg):seg,HAMAP:MF_03044,hmmpanther:PTHR21008,Pfam_domain:PF11968,Superfamily_domains:SSF53335		V		A		886/3981							YES	C7orf60,synonymous_variant,p.=,ENST00000297145,NM_152556.2;C7orf60,synonymous_variant,p.=,ENST00000432572,;C7orf60,downstream_gene_variant,,ENST00000485446,;							LOW	720/1218		BMT2_HUMAN			Transcript			.	ENSP00000297145		CCDS43634.1			1	
ERAP1	0	LGGM	GRCh37	5	96118761	96118761	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	41	3	.	.	ENST00000296754.3:c.2279A>C	p.Asn760Thr	p.N760T	ENST00000296754	NM_016442.3	760	aAc/aCc	0	1		UPI0000041388	0	getma.org/pdb.php?prot=ERAP1_HUMAN&from=597&to=916&var=N760T	ENST00000443439		ENSG00000164307	18173		44	-0.33		HGNC	p.N760T		ERAP1		SNV							ENST00000414384	protein_coding	getma.org/?cm=var&var=hg19,5,96118761,T,G&fts=all		hmmpanther:PTHR11533:SF156,hmmpanther:PTHR11533,Pfam_domain:PF11838		N/T		G	neutral	2346/4805		getma.org/?cm=msa&ty=f&p=ERAP1_HUMAN&rb=597&re=916&var=N760T	tolerated(1)	D6RAL9_HUMAN				ERAP1,missense_variant,p.Asn760Thr,ENST00000296754,NM_016442.3;ERAP1,missense_variant,p.Asn760Thr,ENST00000443439,NM_001040458.1,NM_001198541.1;ERAP1,upstream_gene_variant,,ENST00000512852,;CTD-2260A17.1,upstream_gene_variant,,ENST00000512856,;CTD-2260A17.1,upstream_gene_variant,,ENST00000602972,;ERAP1,non_coding_transcript_exon_variant,,ENST00000514604,;CAST,downstream_gene_variant,,ENST00000510098,;ERAP1,downstream_gene_variant,,ENST00000507859,;							MODERATE	2279/2826	N760T	ERAP1_HUMAN			Transcript		benign(0.002)	.	ENSP00000406304		CCDS47250.1			1	
DLGAP4	0	LGGM	GRCh37	20	35060765	35060765	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	27	3	.	.	ENST00000373913.3:c.645C>T	p.Ala215=	p.A215=	ENST00000373913		215	gcC/gcT	0	1		UPI0000206454	0		ENST00000339266		ENSG00000080845	24476		30			HGNC	p.A215A	rs764464828,COSM1026366	DLGAP4	6.07E-05	SNV						0,1	ENST00000401952	protein_coding			hmmpanther:PTHR12353:SF19,hmmpanther:PTHR12353		A		T		645/4583	3.08E-05							DLGAP4,synonymous_variant,p.=,ENST00000373913,;DLGAP4,synonymous_variant,p.=,ENST00000401952,NM_014902.4;DLGAP4,synonymous_variant,p.=,ENST00000339266,;DLGAP4,synonymous_variant,p.=,ENST00000373907,;					0,1		LOW	645/2979		DLGP4_HUMAN			Transcript			.	ENSP00000341633	2.47E-05				1	
HYDIN	0	LGGM	GRCh37	16	71015339	71015339	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	18	3	.	.	ENST00000393567.2:c.4465G>T	p.Gly1489Ter	p.G1489*	ENST00000393567	NM_001270974.1	1489	Gga/Tga	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		21	0		HGNC	p.G1488X		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,71015339,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		G/*		A	NA	4616/15719		NA		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,stop_gained,p.Gly1489Ter,ENST00000393567,NM_001270974.1;HYDIN,downstream_gene_variant,,ENST00000393552,;							HIGH	4465/15366	G1489*	HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
EVC2	0	LGGM	GRCh37	4	5586544	5586544	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	32	3	.	.	ENST00000344408.5:c.2863C>A	p.Arg955=	p.R955=	ENST00000344408	NM_147127.4	955	Cgg/Agg	0	1	1	UPI00001910B5	0		ENST00000344408		ENSG00000173040	19747		35			HGNC	p.R955R		EVC2		SNV			1				ENST00000344408	protein_coding			hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		R		T		2917/4390				Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,synonymous_variant,p.=,ENST00000310917,NM_001166136.1;EVC2,synonymous_variant,p.=,ENST00000344408,NM_147127.4;EVC2,synonymous_variant,p.=,ENST00000344938,;EVC2,synonymous_variant,p.=,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;							LOW	2863/3927		LBN_HUMAN			Transcript			.	ENSP00000342144		CCDS3382.2			1	
DNAH5	0	LGGM	GRCh37	5	13885218	13885218	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	46	3	.	.	ENST00000265104.4:c.2863G>T	p.Ala955Ser	p.A955S	ENST00000265104	NM_001369.2	955	Gcc/Tcc	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		49	1.565		HGNC	p.A955S		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13885218,C,A&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		A/S		A	low	2968/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=805&re=1004&var=A955S		O95496_HUMAN			YES	DNAH5,missense_variant,p.Ala955Ser,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							MODERATE	2863/13875	A955S	DYH5_HUMAN			Transcript		benign(0.364)	.	ENSP00000265104		CCDS3882.1			1	
ARID3A	0	LGGM	GRCh37	19	964934	964934	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	23	3	.	.	ENST00000263620.3:c.1052G>T	p.Arg351Leu	p.R351L	ENST00000263620	NM_005224.2	351	cGc/cTc	0	1	1	UPI0000129881	0	NA	ENST00000263620		ENSG00000116017	3031		26	2.585		HGNC	p.R351L		ARID3A		SNV							ENST00000263620	protein_coding	getma.org/?cm=var&var=hg19,19,964934,G,T&fts=all		hmmpanther:PTHR15348,hmmpanther:PTHR15348:SF1		R/L		T	medium	1379/5983		getma.org/?cm=msa&ty=f&p=ARI3A_HUMAN&rb=351&re=592&var=R351L	deleterious(0)				YES	ARID3A,missense_variant,p.Arg351Leu,ENST00000263620,NM_005224.2;ARID3A,missense_variant,p.Arg198Leu,ENST00000587532,;ARID3A,non_coding_transcript_exon_variant,,ENST00000585733,;ARID3A,upstream_gene_variant,,ENST00000590251,;ARID3A,upstream_gene_variant,,ENST00000590749,;							MODERATE	1052/1782	R351L	ARI3A_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000263620		CCDS12050.1			1	
WNT7B	0	LGGM	GRCh37	22	46319145	46319145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	24	3	.	.	ENST00000339464.4:c.641G>T	p.Cys214Phe	p.C214F	ENST00000339464	NM_058238.2	214	tGc/tTc	0	1	1	UPI0000001BC6	0	getma.org/pdb.php?prot=WNT7B_HUMAN&from=37&to=349&var=C214F	ENST00000339464		ENSG00000188064	12787		27	4.05		HGNC	p.C218F		WNT7B		SNV							ENST00000409496	protein_coding	getma.org/?cm=var&var=hg19,22,46319145,C,A&fts=all		Pfam_domain:PF00110,Prints_domain:PR01349,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF73,SMART_domains:SM00097		C/F		A	high	1016/3919		getma.org/?cm=msa&ty=f&p=WNT7B_HUMAN&rb=37&re=349&var=C214F	deleterious(0)	B8A598_HUMAN			YES	WNT7B,missense_variant,p.Cys214Phe,ENST00000339464,NM_058238.2;WNT7B,missense_variant,p.Cys218Phe,ENST00000409496,;WNT7B,missense_variant,p.Cys198Phe,ENST00000410089,;WNT7B,downstream_gene_variant,,ENST00000410058,;							MODERATE	641/1050	C214F	WNT7B_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000341032		CCDS33667.1			1	
MURC	0	LGGM	GRCh37	9	103340538	103340538	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	32	3	.	.	ENST00000307584.5:c.113A>G	p.Asp38Gly	p.D38G	ENST00000307584	NM_001018116.2	38	gAc/gGc	0	1	1	UPI000004CC0D	0	NA	ENST00000307584		ENSG00000170681	33742		35	2.195		HGNC	p.D38G		MURC		SNV							ENST00000307584	protein_coding	getma.org/?cm=var&var=hg19,9,103340538,A,G&fts=all		Pfam_domain:PF15237,hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF4		D/G		G	medium	178/2615		getma.org/?cm=msa&ty=f&p=MURC_HUMAN&rb=1&re=285&var=D38G	deleterious(0)				YES	MURC,missense_variant,p.Asp38Gly,ENST00000307584,NM_001018116.2;TMEFF1,downstream_gene_variant,,ENST00000374879,NM_003692.4;MSANTD3-TMEFF1,downstream_gene_variant,,ENST00000502978,NM_001198812.1;TMEFF1,downstream_gene_variant,,ENST00000334943,;RN7SKP87,downstream_gene_variant,,ENST00000364096,;							MODERATE	113/1095	D38G	MURC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000418668		CCDS35083.1			1	
CASZ1	0	LGGM	GRCh37	1	10703294	10703294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	20	3	.	.	ENST00000377022.3:c.3943C>A	p.His1315Asn	p.H1315N	ENST00000377022	NM_001079843.2	1315	Cac/Aac	0	1	1	UPI0000EBB7D6	0	NA	ENST00000377022		ENSG00000130940	26002		23	1.355		HGNC	p.H79N		CASZ1		SNV							ENST00000447850	protein_coding	getma.org/?cm=var&var=hg19,1,10703294,G,T&fts=all		hmmpanther:PTHR12451,PROSITE_patterns:PS00028,SMART_domains:SM00355		H/N		T	low	4261/7936		getma.org/?cm=msa&ty=f&p=CASZ1_HUMAN&rb=1201&re=1400&var=H1315N	tolerated(0.1)				YES	CASZ1,missense_variant,p.His1315Asn,ENST00000377022,NM_001079843.2;CASZ1,missense_variant,p.His79Asn,ENST00000447850,;CASZ1,downstream_gene_variant,,ENST00000344008,NM_017766.4;RP4-734G22.3,intron_variant,,ENST00000606802,;CASZ1,upstream_gene_variant,,ENST00000478524,;							MODERATE	3943/5280	H1315N	CASZ1_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000366221		CCDS41246.1			1	
PCDHGB4	0	LGGM	GRCh37	5	140769410	140769410	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	22	3	.	.	ENST00000519479.1:c.1959G>T	p.Ser653=	p.S653=	ENST00000519479	NM_003736.2	653	tcG/tcT	0	1	1	UPI000006F773	0		ENST00000519479		ENSG00000253953	8711		25			HGNC	p.S653S		PCDHGB4		SNV							ENST00000519479	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,SMART_domains:SM00112,Superfamily_domains:SSF49313		S		T		1959/4578				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	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;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;							LOW	1959/2772		PCDGG_HUMAN			Transcript			.	ENSP00000428288		CCDS54928.1			1	
ZNF493	0	LGGM	GRCh37	19	21606256	21606256	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	22	3	.	.	ENST00000392288.2:c.795C>T	p.Tyr265=	p.Y265=	ENST00000392288	NM_001076678.2	265	taC/taT	0	1		UPI000022ABBE	0		ENST00000355504		ENSG00000196268	23708		25			HGNC	p.Y137Y		ZNF493		SNV							ENST00000355504	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF247,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y		T		677/4386								ZNF493,synonymous_variant,p.=,ENST00000392288,NM_001076678.2;ZNF493,synonymous_variant,p.=,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;							LOW	411/1941		ZN493_HUMAN			Transcript			.	ENSP00000347691		CCDS12412.1			1	
RNF216	0	LGGM	GRCh37	7	5770420	5770420	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	18	3	.	.	ENST00000389902.3:c.1150G>T	p.Asp384Tyr	p.D384Y	ENST00000389902		384	Gat/Tat	0	1		UPI000013D69A	0	NA	ENST00000425013		ENSG00000011275	21698		21	0.975		HGNC	p.D327Y		RNF216		SNV			1				ENST00000425013	protein_coding	getma.org/?cm=var&var=hg19,7,5770420,C,A&fts=all		hmmpanther:PTHR22770,hmmpanther:PTHR22770:SF13		D/Y		A	low	1204/5639		getma.org/?cm=msa&ty=f&p=RN216_HUMAN&rb=312&re=511&var=D327Y	deleterious(0)	C9JIV3_HUMAN				RNF216,missense_variant,p.Asp327Tyr,ENST00000425013,NM_207111.3,NM_207116.2;RNF216,missense_variant,p.Asp384Tyr,ENST00000389902,;RNF216,3_prime_UTR_variant,,ENST00000389900,;RNF216,non_coding_transcript_exon_variant,,ENST00000479541,;							MODERATE	979/2601	D327Y	RN216_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000404602		CCDS34595.1			1	
KIR2DL1	0	LGGM	GRCh37	19	55295221	55295221	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	8	3	.	.	ENST00000336077.6:c.1003C>T	p.Leu335Phe	p.L335F	ENST00000336077	NM_014218.2	335	Ctt/Ttt	0	1	1	UPI00001195F7	0	NA	ENST00000336077		ENSG00000125498	6329		11	2.005		HGNC	p.L335F		KIR2DL1		SNV							ENST00000434419	protein_coding	getma.org/?cm=var&var=hg19,19,55295221,C,T&fts=all		hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF19		L/F		T	medium	1043/1596		getma.org/?cm=msa&ty=f&p=KI2L1_HUMAN&rb=201&re=348&var=L335F	tolerated(0.3)	Q6H2H4_HUMAN,Q6H2H3_HUMAN,K7R1R8_HUMAN			YES	KIR2DL1,missense_variant,p.Leu335Phe,ENST00000336077,NM_014218.2;KIR2DL3,missense_variant,p.Leu335Phe,ENST00000434419,;KIR2DL1,missense_variant,p.Leu361Phe,ENST00000291633,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000396284,;CTB-61M7.1,intron_variant,,ENST00000400864,;KIR3DP1,upstream_gene_variant,,ENST00000580853,;							MODERATE	1003/1047	L335F	KI2L1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000336769		CCDS12904.1			1	
RABGGTA	0	LGGM	GRCh37	14	24739638	24739638	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	37	3	.	.	ENST00000399409.3:c.141C>A	p.Ser47=	p.S47=	ENST00000399409	NM_004581.5	47	tcC/tcA	0	1		UPI000013188E	0		ENST00000216840		ENSG00000100949	9795		40			HGNC	p.S47S		RABGGTA		SNV							ENST00000558376	protein_coding			Gene3D:1.25.40.120,PROSITE_profiles:PS51147,hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF2,Superfamily_domains:SSF48439		S		T		448/2088				H0YLG7_HUMAN,D3DS70_HUMAN				RABGGTA,synonymous_variant,p.=,ENST00000399409,NM_004581.5;RABGGTA,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000559974,;RABGGTA,synonymous_variant,p.=,ENST00000558376,;RABGGTA,synonymous_variant,p.=,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,,ENST00000560207,;RABGGTA,non_coding_transcript_exon_variant,,ENST00000558936,;RABGGTA,upstream_gene_variant,,ENST00000558649,;RABGGTA,upstream_gene_variant,,ENST00000561055,;RABGGTA,upstream_gene_variant,,ENST00000560243,;RABGGTA,upstream_gene_variant,,ENST00000559850,;							LOW	141/1704		PGTA_HUMAN			Transcript			.	ENSP00000216840		CCDS45088.1			1	
LRP5	0	LGGM	GRCh37	11	68181258	68181258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	23	3	.	.	ENST00000294304.7:c.2605G>A	p.Glu869Lys	p.E869K	ENST00000294304	NM_002335.2	869	Gag/Aag	0	1	1	UPI0000073246	0	getma.org/pdb.php?prot=LRP5_HUMAN&from=856&to=896&var=E869K	ENST00000294304		ENSG00000162337	6697		26	2.755		HGNC	p.E869K	COSM1475836	LRP5		SNV			1			1	ENST00000294304	protein_coding	getma.org/?cm=var&var=hg19,11,68181258,G,A&fts=all		Superfamily_domains:SSF63825,PIRSF_domain:PIRSF036314,SMART_domains:SM00135,Pfam_domain:PF00058,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF202,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		E/K		A	medium	2711/5159		getma.org/?cm=msa&ty=f&p=LRP5_HUMAN&rb=856&re=896&var=E869K	deleterious(0.01)	E9PHY1_HUMAN			YES	LRP5,missense_variant,p.Glu869Lys,ENST00000294304,NM_002335.2;LRP5,downstream_gene_variant,,ENST00000528714,;LRP5,3_prime_UTR_variant,,ENST00000529993,;					1		MODERATE	2605/4848	E869K	LRP5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000294304		CCDS8181.1			1	
CCDC62	0	LGGM	GRCh37	12	123286012	123286012	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	9	3	.	.	ENST00000253079.6:c.1319C>T	p.Thr440Ile	p.T440I	ENST00000253079	NM_201435.4	440	aCt/aTt	0	1	1	UPI0000366924	0	NA	ENST00000253079		ENSG00000130783	30723		12	-0.755		HGNC	p.T201I		CCDC62		SNV							ENST00000392440	protein_coding	getma.org/?cm=var&var=hg19,12,123286012,C,T&fts=all				T/I		T	neutral	1663/3546		getma.org/?cm=msa&ty=f&p=CCD62_HUMAN&rb=9&re=672&var=T440I	tolerated(0.36)				YES	CCDC62,missense_variant,p.Thr440Ile,ENST00000253079,NM_201435.4;CCDC62,missense_variant,p.Thr201Ile,ENST00000537566,;CCDC62,missense_variant,p.Thr440Ile,ENST00000392441,;CCDC62,missense_variant,p.Thr201Ile,ENST00000392440,;CCDC62,missense_variant,p.Thr440Ile,ENST00000341952,;							MODERATE	1319/2055	T440I	CCD62_HUMAN			Transcript		benign(0.003)	.	ENSP00000253079		CCDS9238.1			1	
HOXB13	0	LGGM	GRCh37	17	46805851	46805851	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	14	3	.	.	ENST00000290295.7:c.105C>A	p.Ser35Arg	p.S35R	ENST00000290295	NM_006361.5	35	agC/agA	0	1	1	UPI000006F288	0	NA	ENST00000290295		ENSG00000159184	5112		17	-0.46		HGNC	p.S35R		HOXB13		SNV			1				ENST00000290295	protein_coding	getma.org/?cm=var&var=hg19,17,46805851,G,T&fts=all		hmmpanther:PTHR24326:SF47,hmmpanther:PTHR24326,Pfam_domain:PF12284		S/R		T	neutral	690/3467		getma.org/?cm=msa&ty=f&p=HXB13_HUMAN&rb=9&re=123&var=S35R	tolerated(0.42)				YES	HOXB13,missense_variant,p.Ser35Arg,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,;							MODERATE	105/855	S35R	HXB13_HUMAN			Transcript		possibly_damaging(0.583)	.	ENSP00000290295		CCDS11536.1			1	
C6orf163	0	LGGM	GRCh37	6	88066217	88066217	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	21	3	.	.	ENST00000388923.4:c.550A>G	p.Lys184Glu	p.K184E	ENST00000388923	NM_001010868.2	184	Aaa/Gaa	0	1	1	UPI0000DBEE6F	0	NA	ENST00000388923		ENSG00000203872	21403		24	1.355		HGNC	p.K58E		C6orf163		SNV							ENST00000369574	protein_coding	getma.org/?cm=var&var=hg19,6,88066217,A,G&fts=all				K/E		G	low	801/1308		getma.org/?cm=msa&ty=f&p=CF163_HUMAN&rb=1&re=327&var=K184E	tolerated(0.29)	E1P506_HUMAN			YES	C6orf163,missense_variant,p.Lys54Glu,ENST00000608326,;C6orf163,missense_variant,p.Lys184Glu,ENST00000388923,NM_001010868.2;C6orf163,upstream_gene_variant,,ENST00000608891,;C6orf163,non_coding_transcript_exon_variant,,ENST00000369574,;RP1-102H19.8,intron_variant,,ENST00000448282,;							MODERATE	550/990	K184E	CF163_HUMAN			Transcript		benign(0.323)	.	ENSP00000373575		CCDS55042.1			1	
CES5A	0	LGGM	GRCh37	16	55909073	55909073	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	47	3	.	.	ENST00000521992.1:c.161-1124G>T		*54*	ENST00000521992	NM_001190158.1			0	1		UPI000035CC44	0	NA	ENST00000290567		ENSG00000159398	26459		50	1.61		HGNC	p.A21S		CES5A		SNV							ENST00000290567	protein_coding	getma.org/?cm=var&var=hg19,16,55909073,C,A&fts=all		hmmpanther:PTHR11559:SF43,hmmpanther:PTHR11559,Pfam_domain:PF00135		A/S		A	low	183/2084		getma.org/?cm=msa&ty=f&p=EST5A_HUMAN&rb=9&re=539&var=A21S	tolerated(0.18)	I3NI11_HUMAN,F5H0J7_HUMAN				CES5A,missense_variant,p.Ala21Ser,ENST00000290567,NM_001143685.1;CES5A,missense_variant,p.Ala21Ser,ENST00000319165,NM_145024.2;CES5A,missense_variant,p.Ala21Ser,ENST00000520435,;CES5A,intron_variant,,ENST00000521992,NM_001190158.1;CES5A,intron_variant,,ENST00000518005,;CES5A,intron_variant,,ENST00000536025,;CES5A,intron_variant,,ENST00000541580,;CES5A,intron_variant,,ENST00000521228,;CES5A,upstream_gene_variant,,ENST00000544479,;							MODERATE	61/1728	A21S	EST5A_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000290567		CCDS45490.1			1	
ODF2	0	LGGM	GRCh37	9	131243890	131243890	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	22	3	.	.	ENST00000434106.3:c.875C>A	p.Ala292Glu	p.A292E	ENST00000434106	NM_153433.1	292	gCa/gAa	0	1	1	UPI0000211922	0	NA	ENST00000434106		ENSG00000136811	8114		25	-0.345		HGNC	p.A292E		ODF2		SNV							ENST00000393533	protein_coding	getma.org/?cm=var&var=hg19,9,131243890,C,A&fts=all		hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8		A/E		A	neutral	1238/3890		getma.org/?cm=msa&ty=f&p=ODFP2_HUMAN&rb=62&re=527&var=A292E	tolerated(0.68)	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN			YES	ODF2,missense_variant,p.Ala292Glu,ENST00000434106,NM_153433.1;ODF2,missense_variant,p.Ala268Glu,ENST00000393527,NM_002540.4;ODF2,missense_variant,p.Ala287Glu,ENST00000351030,NM_153435.1,NM_001242352.1;ODF2,missense_variant,p.Ala292Glu,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Ala287Glu,ENST00000372807,;ODF2,missense_variant,p.Ala268Glu,ENST00000444119,;ODF2,missense_variant,p.Ala273Glu,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Ala336Glu,ENST00000372814,NM_153439.1,NM_153432.1;ODF2,missense_variant,p.Ala273Glu,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Ala292Glu,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Ala211Glu,ENST00000448249,NM_001242354.1;ODF2,missense_variant,p.Ala235Glu,ENST00000421776,;ODF2,3_prime_UTR_variant,,ENST00000535026,;AL359091.1,downstream_gene_variant,,ENST00000580080,;							MODERATE	875/2490	A292E	ODFP2_HUMAN			Transcript		benign(0.008)	.	ENSP00000403453		CCDS56588.1			1	
CEP104	0	LGGM	GRCh37	1	3753213	3753213	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	26	3	.	.	ENST00000378230.3:c.1163G>A	p.Arg388His	p.R388H	ENST00000378230	NM_014704.3	388	cGt/cAt	0	1	1	UPI0000139AA8	0	NA	ENST00000378230		ENSG00000116198	24866		29	2.39		HGNC	p.R82H	rs780478231	CEP104		SNV							ENST00000443466	protein_coding	getma.org/?cm=var&var=hg19,1,3753213,C,T&fts=all		hmmpanther:PTHR13371:SF0,hmmpanther:PTHR13371		R/H		T	medium	1488/6424	1.50E-05	getma.org/?cm=msa&ty=f&p=CE104_HUMAN&rb=201&re=400&var=R388H	tolerated(0.22)				YES	CEP104,missense_variant,p.Arg388His,ENST00000378230,NM_014704.3;CEP104,missense_variant,p.Arg82His,ENST00000443466,;CEP104,downstream_gene_variant,,ENST00000428079,;CEP104,intron_variant,,ENST00000460038,;CEP104,non_coding_transcript_exon_variant,,ENST00000494653,;CEP104,downstream_gene_variant,,ENST00000494951,;							MODERATE	1163/2778	R388H	CE104_HUMAN			Transcript		benign(0.021)	.	ENSP00000367476	8.24E-06	CCDS30571.1			1	
SLC35E2	0	LGGM	GRCh37	1	1670387	1670387	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	27	3	.	.	ENST00000246421.4:c.432G>T	p.Met144Ile	p.M144I	ENST00000246421	NM_182838.2	144	atG/atT	0	1	1	UPI000006FA83	0	NA	ENST00000246421		ENSG00000215790	20863		30	1.265		HGNC	p.M144I		SLC35E2		SNV							ENST00000400924	protein_coding	getma.org/?cm=var&var=hg19,1,1670387,C,A&fts=all		Pfam_domain:PF00892,hmmpanther:PTHR11132,hmmpanther:PTHR11132:SF43,Transmembrane_helices:TMhelix		M/I		A	low	848/1430		getma.org/?cm=msa&ty=f&p=S35E2_HUMAN&rb=83&re=198&var=M144I	tolerated(0.13)				YES	SLC35E2,missense_variant,p.Met144Ile,ENST00000355439,NM_001199787.1;SLC35E2,missense_variant,p.Met144Ile,ENST00000246421,NM_182838.2;SLC35E2,missense_variant,p.Met144Ile,ENST00000400924,;RP1-283E3.8,upstream_gene_variant,,ENST00000598846,;SLC35E2,upstream_gene_variant,,ENST00000475229,;RP1-283E3.4,downstream_gene_variant,,ENST00000424604,;RP1-283E3.4,downstream_gene_variant,,ENST00000577672,;RP1-283E3.4,downstream_gene_variant,,ENST00000418950,;							MODERATE	432/801	M144I	S35E2_HUMAN			Transcript		benign(0.209)	.	ENSP00000246421		CCDS33.1			1	
TRMT61B	0	LGGM	GRCh37	2	29093036	29093036	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	24	3	.	.	ENST00000306108.5:c.108G>C	p.Arg36=	p.R36=	ENST00000306108	NM_017910.3	36	cgG/cgC	0	1	1	UPI000006D28C	0		ENST00000306108		ENSG00000171103	26070		27			HGNC	p.R36R		TRMT61B		SNV							ENST00000306108	protein_coding					R		G		132/1836							YES	TRMT61B,synonymous_variant,p.=,ENST00000306108,NM_017910.3;TRMT61B,synonymous_variant,p.=,ENST00000439947,;							LOW	108/1434		TR61B_HUMAN			Transcript			.	ENSP00000302801		CCDS1768.1			1	
BCL11A	0	LGGM	GRCh37	2	60688252	60688252	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	14	3	.	.	ENST00000335712.6:c.1795G>A	p.Asp599Asn	p.D599N	ENST00000335712	NM_022893.3	599	Gat/Aat	0	1	1	UPI000013DC00	0	NA	ENST00000335712		ENSG00000119866	13221	8.88E-05	17	0		HGNC	p.D565N	rs768112365	BCL11A		SNV			1				ENST00000538214	protein_coding	getma.org/?cm=var&var=hg19,2,60688252,C,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43		D/N		T	neutral	2023/5942	0.000165	getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=417&re=616&var=D599N	tolerated(0.13)	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN			YES	BCL11A,missense_variant,p.Asp599Asn,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Asp599Asn,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Asp565Asn,ENST00000358510,;BCL11A,missense_variant,p.Asp565Asn,ENST00000538214,;BCL11A,missense_variant,p.Asp268Asn,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,;							MODERATE	1795/2508	D599N	BC11A_HUMAN	0.00046		Transcript		possibly_damaging(0.555)	common_variant	ENSP00000338774	0.000116	CCDS1862.1			1	
FAM63B	0	LGGM	GRCh37	15	59113980	59113980	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	24	3	.	.	ENST00000559228.1:c.1187C>A	p.Ser396Tyr	p.S396Y	ENST00000559228		396	tCt/tAt	0	1	1	UPI0000D74C47	0	NA	ENST00000559228		ENSG00000128923	26954		27	1.905		HGNC	p.S396Y		FAM63B		SNV							ENST00000559228	protein_coding	getma.org/?cm=var&var=hg19,15,59113980,C,A&fts=all		Pfam_domain:PF04424,hmmpanther:PTHR18063:SF8,hmmpanther:PTHR18063		S/Y		A	medium	1269/9238		getma.org/?cm=msa&ty=f&p=FA63B_HUMAN&rb=272&re=397&var=S396Y	deleterious(0)				YES	FAM63B,missense_variant,p.Ser396Tyr,ENST00000559228,;FAM63B,missense_variant,p.Ser396Tyr,ENST00000450403,NM_001040453.1,NM_001040450.1;FAM63B,missense_variant,p.Ser127Tyr,ENST00000559745,;RP11-30K9.4,downstream_gene_variant,,ENST00000560378,;FAM63B,missense_variant,p.Ser396Tyr,ENST00000316848,;FAM63B,missense_variant,p.Ser362Tyr,ENST00000560289,;							MODERATE	1187/1866	S396Y	FA63B_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000452885		CCDS42046.1			1	
ZNF835	0	LGGM	GRCh37	19	57175895	57175895	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	14	3	.	.	ENST00000537055.2:c.672C>T	p.Cys224=	p.C224=	ENST00000537055	NM_001005850.2	224	tgC/tgT	0	1	1	UPI0000EE7244	0		ENST00000537055		ENSG00000127903	34332		17			HGNC	p.C224C		ZNF835		SNV							ENST00000537055	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667		C		A		904/2779				M0QYX0_HUMAN			YES	ZNF835,synonymous_variant,p.=,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,;							LOW	672/1614		ZN835_HUMAN			Transcript			.	ENSP00000444747		CCDS56105.1			1	
KDM5C	0	LGGM	GRCh37	X	53239702	53239702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	15	4	.	.	ENST00000375401.3:c.1640A>G	p.Glu547Gly	p.E547G	ENST00000375401	NM_004187.3	547	gAa/gGa	0	1	1	UPI000013CBE3	0	getma.org/pdb.php?prot=KDM5C_HUMAN&from=501&to=617&var=E547G	ENST00000375401		ENSG00000126012	11114		19	2.035		HGNC	p.E547G		KDM5C		SNV			1				ENST00000375379	protein_coding	getma.org/?cm=var&var=hg19,X,53239702,T,C&fts=all		PROSITE_profiles:PS51184,hmmpanther:PTHR10694:SF31,hmmpanther:PTHR10694,Pfam_domain:PF02373,SMART_domains:SM00558,Superfamily_domains:SSF51197		E/G		C	medium	2173/6031		getma.org/?cm=msa&ty=f&p=KDM5C_HUMAN&rb=501&re=617&var=E547G	deleterious(0.04)				YES	KDM5C,missense_variant,p.Glu480Gly,ENST00000452825,NM_001146702.1;KDM5C,missense_variant,p.Glu547Gly,ENST00000375401,NM_004187.3;KDM5C,missense_variant,p.Glu546Gly,ENST00000404049,NM_001282622.1;KDM5C,missense_variant,p.Glu547Gly,ENST00000375379,;KDM5C,missense_variant,p.Glu506Gly,ENST00000375383,;KDM5C-IT1,downstream_gene_variant,,ENST00000412242,;KDM5C,non_coding_transcript_exon_variant,,ENST00000465402,;KDM5C,non_coding_transcript_exon_variant,,ENST00000497100,;							MODERATE	1640/4683	E547G	KDM5C_HUMAN			Transcript		possibly_damaging(0.489)	.	ENSP00000364550		CCDS14351.1			1	
OR5K4	0	LGGM	GRCh37	3	98073564	98073564	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	57	4	.	.	ENST00000354924.2:c.867G>T	p.Leu289=	p.L289=	ENST00000354924	NM_001005517.1	289	ctG/ctT	0	1	1	UPI000044D411	0		ENST00000354924		ENSG00000196098	31291		61			HGNC	p.L289L		OR5K4		SNV							ENST00000354924	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF198,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245,Prints_domain:PR00237		L		T		867/966							YES	OR5K4,synonymous_variant,p.=,ENST00000354924,NM_001005517.1;RP11-325B23.2,intron_variant,,ENST00000508616,;							LOW	867/966		OR5K4_HUMAN			Transcript			.	ENSP00000347003		CCDS33802.1			1	
E2F3	0	LGGM	GRCh37	6	20483005	20483005	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	25	4	.	.	ENST00000346618.3:c.738G>T	p.Leu246=	p.L246=	ENST00000346618	NM_001949.4	246	ctG/ctT	0	1	1	UPI0000129AC2	0		ENST00000346618		ENSG00000112242	3115		29			HGNC	p.L115L		E2F3		SNV							ENST00000535432	protein_coding			hmmpanther:PTHR12081:SF36,hmmpanther:PTHR12081		L		T		804/4744				Q24JQ3_HUMAN			YES	E2F3,synonymous_variant,p.=,ENST00000346618,NM_001949.4;E2F3,synonymous_variant,p.=,ENST00000535432,NM_001243076.2;							LOW	738/1398		E2F3_HUMAN			Transcript			.	ENSP00000262904		CCDS4545.1			1	
NAALAD2	0	LGGM	GRCh37	11	89911254	89911254	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	28	4	.	.	ENST00000534061.1:c.1827T>C	p.Asp609=	p.D609=	ENST00000534061	NM_005467.3	609	gaT/gaC	0	1	1	UPI0000031A85	0		ENST00000534061		ENSG00000077616	14526		32			HGNC	p.D609D		NAALAD2		SNV							ENST00000534061	protein_coding			Gene3D:3kasA03,hmmpanther:PTHR10404,hmmpanther:PTHR10404:SF38,Superfamily_domains:SSF47672		D		C		2057/3600				E9PJ53_HUMAN,E9PII2_HUMAN			YES	NAALAD2,synonymous_variant,p.=,ENST00000534061,NM_005467.3;NAALAD2,synonymous_variant,p.=,ENST00000321955,;NAALAD2,intron_variant,,ENST00000375944,;							LOW	1827/2223		NALD2_HUMAN			Transcript			.	ENSP00000432481		CCDS8288.1			1	
ATP6V0A4	0	LGGM	GRCh37	7	138444497	138444497	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	20	4	.	.	ENST00000310018.2:c.639G>A	p.Thr213=	p.T213=	ENST00000310018	NM_020632.2	213	acG/acA	0	1	1	UPI000013CDFD	0		ENST00000310018		ENSG00000105929	866		24			HGNC	p.T213T		ATP6V0A4		SNV			1				ENST00000310018	protein_coding			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26		T		T		922/3135							YES	ATP6V0A4,splice_region_variant,p.=,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,splice_region_variant,p.=,ENST00000393054,NM_130841.2;ATP6V0A4,splice_region_variant,p.=,ENST00000353492,;ATP6V0A4,downstream_gene_variant,,ENST00000483139,;ATP6V0A4,upstream_gene_variant,,ENST00000478480,;							LOW	639/2523		VPP4_HUMAN			Transcript			.	ENSP00000308122		CCDS5849.1			1	
CWF19L2	0	LGGM	GRCh37	11	107224279	107224279	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	51	4	.	.	ENST00000282251.5:c.2056A>T	p.Lys686Ter	p.K686*	ENST00000282251	NM_152434.2	686	Aag/Tag	0	1	1	UPI00005A81B4	0	NA	ENST00000282251		ENSG00000152404	26508		55	0		HGNC	p.K686X		CWF19L2		SNV							ENST00000282251	protein_coding	getma.org/?cm=var&var=hg19,11,107224279,T,A&fts=all		hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072,Gene3D:3.30.428.10,Pfam_domain:PF04677,Superfamily_domains:SSF54197		K/*		A	NA	2084/3278		NA		Q6PIV4_HUMAN			YES	CWF19L2,stop_gained,p.Lys686Ter,ENST00000282251,NM_152434.2;CWF19L2,stop_gained,p.Lys686Ter,ENST00000433523,;CWF19L2,stop_gained,p.Lys567Ter,ENST00000431778,;CWF19L2,synonymous_variant,p.=,ENST00000532251,;CWF19L2,non_coding_transcript_exon_variant,,ENST00000462890,;							HIGH	2056/2685	K686*	C19L2_HUMAN			Transcript			.	ENSP00000282251		CCDS8336.2			1	
PLXNA1	0	LGGM	GRCh37	3	126747855	126747855	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	21	4	.	.	ENST00000393409.2:c.4689G>A	p.Met1563Ile	p.M1563I	ENST00000393409	NM_032242.3	1563	atG/atA	0	1	1	UPI00001A7983	0	getma.org/pdb.php?prot=PLXA1_HUMAN&from=1317&to=1866&var=M1563I	ENST00000393409		ENSG00000114554	9099		25	0.145		HGNC	p.M1563I		PLXNA1		SNV							ENST00000393409	protein_coding	getma.org/?cm=var&var=hg19,3,126747855,G,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Pfam_domain:PF08337,Gene3D:3.10.20.90		M/I		A	neutral	4689/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=1317&re=1866&var=M1563I	tolerated(0.63)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Met1540Ile,ENST00000251772,;PLXNA1,missense_variant,p.Met1563Ile,ENST00000393409,NM_032242.3;PLXNA1,upstream_gene_variant,,ENST00000505278,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503234,;PLXNA1,non_coding_transcript_exon_variant,,ENST00000503363,;							MODERATE	4689/5691	M1563I	PLXA1_HUMAN			Transcript		benign(0.015)	.	ENSP00000377061		CCDS33847.2			1	
FER	0	LGGM	GRCh37	5	108171457	108171457	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	15	4	.	.	ENST00000281092.4:c.430A>G	p.Ile144Val	p.I144V	ENST00000281092	NM_005246.2	144	Ata/Gta	0	1	1	UPI000013DC55	0	getma.org/pdb.php?prot=FER_HUMAN&from=93&to=159&var=I144V	ENST00000281092		ENSG00000151422	3655		19	-0.46		HGNC	p.I144V		FER		SNV							ENST00000281092	protein_coding	getma.org/?cm=var&var=hg19,5,108171457,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF227,PIRSF_domain:PIRSF000632,Superfamily_domains:SSF103657		I/V		G	neutral	814/12119		getma.org/?cm=msa&ty=f&p=FER_HUMAN&rb=93&re=159&var=I144V	tolerated(1)				YES	FER,missense_variant,p.Ile144Val,ENST00000281092,NM_005246.2;FER,missense_variant,p.Ile144Val,ENST00000536402,;FER,intron_variant,,ENST00000438717,;CTD-2197I11.1,upstream_gene_variant,,ENST00000510935,;FER,non_coding_transcript_exon_variant,,ENST00000502752,;FER,downstream_gene_variant,,ENST00000509035,;FER,downstream_gene_variant,,ENST00000513676,;FER,intron_variant,,ENST00000504143,;							MODERATE	430/2469	I144V	FER_HUMAN			Transcript		benign(0.001)	.	ENSP00000281092		CCDS4098.1			1	
IFT172	0	LGGM	GRCh37	2	27695187	27695187	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	60	4	.	.	ENST00000260570.3:c.1454A>G	p.Glu485Gly	p.E485G	ENST00000260570	NM_015662.1	485	gAg/gGg	0	1	1	UPI0000353ABB	0	NA	ENST00000260570		ENSG00000138002	30391		64	1.1		HGNC	p.E485G		IFT172		SNV			1				ENST00000260570	protein_coding	getma.org/?cm=var&var=hg19,2,27695187,T,C&fts=all		hmmpanther:PTHR15722,hmmpanther:PTHR15722:SF2,Gene3D:2.130.10.10,Superfamily_domains:0047732		E/G		C	low	1558/5415		getma.org/?cm=msa&ty=f&p=IF172_HUMAN&rb=401&re=600&var=E485G	deleterious(0)	H7C161_HUMAN			YES	IFT172,missense_variant,p.Glu485Gly,ENST00000260570,NM_015662.1;IFT172,missense_variant,p.Glu485Gly,ENST00000359466,;IFT172,missense_variant,p.Glu464Gly,ENST00000416524,;RNU6-986P,downstream_gene_variant,,ENST00000363133,;IFT172,non_coding_transcript_exon_variant,,ENST00000507184,;IFT172,non_coding_transcript_exon_variant,,ENST00000511842,;IFT172,downstream_gene_variant,,ENST00000476264,;IFT172,upstream_gene_variant,,ENST00000463613,;							MODERATE	1454/5250	E485G	IF172_HUMAN			Transcript		benign(0.008)	.	ENSP00000260570		CCDS1755.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73188743	73188743	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	81	4	.	.	ENST00000286657.4:c.933G>T	p.Leu311=	p.L311=	ENST00000286657	NM_014243.2	311	ctG/ctT	0	1	1	UPI00001AEAEA	0		ENST00000286657		ENSG00000156140	219		85			HGNC	p.L311L		ADAMTS3		SNV							ENST00000286657	protein_coding			PROSITE_profiles:PS50215,hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486		L		A		970/5822				Q96AY5_HUMAN			YES	ADAMTS3,synonymous_variant,p.=,ENST00000286657,NM_014243.2;RP11-373J21.1,upstream_gene_variant,,ENST00000503918,;							LOW	933/3618		ATS3_HUMAN			Transcript			.	ENSP00000286657		CCDS3553.1			1	
TUBA4A	0	LGGM	GRCh37	2	220116349	220116349	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	38	4	.	.	ENST00000248437.4:c.313C>A	p.Arg105Ser	p.R105S	ENST00000248437	NM_006000.2	105	Cgt/Agt	0	1	1	UPI0000004129	0	getma.org/pdb.php?prot=TBA4A_HUMAN&from=3&to=226&var=R105S	ENST00000248437		ENSG00000127824	12407		42	3.015		HGNC	p.R107S		TUBA4A		SNV							ENST00000425551	protein_coding	getma.org/?cm=var&var=hg19,2,220116349,G,T&fts=all		Gene3D:3.40.50.1440,Pfam_domain:PF00091,Prints_domain:PR01161,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF75,SMART_domains:SM00864,Superfamily_domains:SSF52490		R/S		T	medium	487/2162		getma.org/?cm=msa&ty=f&p=TBA4A_HUMAN&rb=3&re=226&var=R105S	deleterious_low_confidence(0)	C9JQ00_HUMAN,C9JEV8_HUMAN,C9JDS9_HUMAN,A8MUB1_HUMAN			YES	TUBA4A,missense_variant,p.Arg90Ser,ENST00000392088,NM_001278552.1;TUBA4A,missense_variant,p.Arg105Ser,ENST00000248437,NM_006000.2;TUBA4A,missense_variant,p.Arg90Ser,ENST00000427737,;TUBA4A,missense_variant,p.Arg128Ser,ENST00000456818,;TUBA4A,missense_variant,p.Arg90Ser,ENST00000447205,;TUBA4A,missense_variant,p.Arg107Ser,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,;							MODERATE	313/1347	R105S	TBA4A_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000248437		CCDS2438.1			1	
SPICE1	0	LGGM	GRCh37	3	113169361	113169361	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	36	4	.	.	ENST00000295872.4:c.2145T>G	p.Thr715=	p.T715=	ENST00000295872	NM_144718.3	715	acT/acG	0	1	1	UPI000007328D	0		ENST00000295872		ENSG00000163611	25083		40			HGNC	p.T715T		SPICE1		SNV							ENST00000295872	protein_coding			hmmpanther:PTHR31167,hmmpanther:PTHR31167:SF2		T		C		2405/5417				C9J5T2_HUMAN,C9J4W3_HUMAN,C9IZF0_HUMAN			YES	SPICE1,splice_region_variant,p.=,ENST00000295872,NM_144718.3;SPICE1,intron_variant,,ENST00000467618,;SPICE1,splice_region_variant,,ENST00000496105,;							LOW	2145/2568		SPICE_HUMAN			Transcript			.	ENSP00000295872		CCDS2973.1			1	
OBSCN	0	LGGM	GRCh37	1	228400451	228400451	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	6	5	.	.	ENST00000570156.2:c.967T>A	p.Ser323Thr	p.S323T	ENST00000570156	NM_001271223.2	323	Tct/Act	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=241&to=328&var=S323T	ENST00000422127		ENSG00000154358	15719		11	0.315		HGNC	p.S323T		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228400451,T,A&fts=all		hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/T		A	neutral	1011/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=241&re=328&var=S323T						OBSCN,missense_variant,p.Ser323Thr,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Ser323Thr,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Ser323Thr,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,missense_variant,p.Ser133Cys,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;							MODERATE	967/23907	S323T	OBSCN_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000409493		CCDS58065.1			1	
NPSR1	0	LGGM	GRCh37	7	34867184	34867184	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	35	5	.	.	ENST00000359791.1:c.650T>A	p.Leu217Gln	p.L217Q	ENST00000359791	NM_207173.1	217	cTg/cAg	0	1		UPI0000159341	0	getma.org/pdb.php?prot=NPSR1_HUMAN&from=66&to=330&var=L217Q	ENST00000360581		ENSG00000187258	23631		40	2.325		HGNC	p.L217Q		NPSR1		SNV			1				ENST00000381539	protein_coding	getma.org/?cm=var&var=hg19,7,34867184,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/Q		A	medium	778/1567		getma.org/?cm=msa&ty=f&p=NPSR1_HUMAN&rb=66&re=330&var=L217Q	deleterious(0.03)					NPSR1,missense_variant,p.Leu217Gln,ENST00000360581,NM_207172.1;NPSR1,missense_variant,p.Leu217Gln,ENST00000359791,NM_207173.1;NPSR1,missense_variant,p.Leu206Gln,ENST00000531252,;NPSR1,missense_variant,p.Leu151Gln,ENST00000381542,;NPSR1,missense_variant,p.Leu217Gln,ENST00000381539,;NPSR1-AS1,intron_variant,,ENST00000442669,;NPSR1-AS1,intron_variant,,ENST00000436945,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;NPSR1,3_prime_UTR_variant,,ENST00000381544,;							MODERATE	650/1116	L217Q	NPSR1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000353788		CCDS5444.1			1	
MIOS	0	LGGM	GRCh37	7	7625375	7625375	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	35	5	.	.	ENST00000340080.4:c.1757C>A	p.Pro586Gln	p.P586Q	ENST00000340080	NM_019005.3	586	cCg/cAg	0	1	1	UPI000020EB0B	0	NA	ENST00000340080		ENSG00000164654	21905		40	2.855		HGNC	p.P586Q		MIOS		SNV							ENST00000340080	protein_coding	getma.org/?cm=var&var=hg19,7,7625375,C,A&fts=all		hmmpanther:PTHR16453		P/Q		A	medium	2178/3453		getma.org/?cm=msa&ty=f&p=MIO_HUMAN&rb=550&re=860&var=P586Q	deleterious(0)	C9JUE6_HUMAN,C9JTV2_HUMAN,C9JAQ1_HUMAN			YES	MIOS,missense_variant,p.Pro586Gln,ENST00000340080,NM_019005.3;MIOS,missense_variant,p.Pro586Gln,ENST00000405785,;MIOS,downstream_gene_variant,,ENST00000461907,;MIOS,non_coding_transcript_exon_variant,,ENST00000493227,;							MODERATE	1757/2628	P586Q	MIO_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339881		CCDS43554.1			1	
SP100	0	LGGM	GRCh37	2	231328819	231328819	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	17	5	.	.	ENST00000340126.4:c.1095A>C	p.Glu365Asp	p.E365D	ENST00000340126	NM_001080391.1	365	gaA/gaC	0	1		UPI000004F0A8	0	NA	ENST00000264052		ENSG00000067066	11206		22	0.69		HGNC	p.E340D		SP100		SNV							ENST00000409824	protein_coding	getma.org/?cm=var&var=hg19,2,231328819,A,C&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF45		E/D		C	neutral	1450/3882		getma.org/?cm=msa&ty=f&p=SP100_HUMAN&rb=351&re=550&var=E365D	tolerated(0.39)	Q53TD0_HUMAN,Q4ZG64_HUMAN				SP100,missense_variant,p.Glu365Asp,ENST00000264052,NM_003113.3;SP100,missense_variant,p.Glu365Asp,ENST00000340126,NM_001080391.1;SP100,missense_variant,p.Glu365Asp,ENST00000409112,NM_001206701.1;SP100,missense_variant,p.Glu330Asp,ENST00000409897,NM_001206704.1;SP100,missense_variant,p.Glu365Asp,ENST00000409341,NM_001206702.1;SP100,missense_variant,p.Glu340Asp,ENST00000427101,NM_001206703.1;SP100,missense_variant,p.Glu340Asp,ENST00000409824,;SP100,missense_variant,p.Glu365Asp,ENST00000341950,;SP100,missense_variant,p.Glu30Asp,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,;							MODERATE	1095/2640	E365D	SP100_HUMAN			Transcript		benign(0.344)	.	ENSP00000264052		CCDS2477.1			1	
WDR89	0	LGGM	GRCh37	14	64065780	64065780	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	69	5	.	.	ENST00000394942.2:c.881G>A	p.Gly294Glu	p.G294E	ENST00000394942	NM_001258272.1	294	gGa/gAa	0	1		UPI000000CBD9	0	NA	ENST00000267522		ENSG00000140006	20489		74	2.425		HGNC	p.G294E		WDR89		SNV							ENST00000267522	protein_coding	getma.org/?cm=var&var=hg19,14,64065780,C,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR22889,Superfamily_domains:SSF50978		G/E		T	medium	1127/1687		getma.org/?cm=msa&ty=f&p=WDR89_HUMAN&rb=200&re=310&var=G294E	deleterious(0)	G3V4B8_HUMAN				WDR89,missense_variant,p.Gly294Glu,ENST00000394942,NM_001258272.1,NM_001008726.2,NM_080666.3;WDR89,missense_variant,p.Gly294Glu,ENST00000267522,;WDR89,downstream_gene_variant,,ENST00000554717,;CTD-2302E22.2,intron_variant,,ENST00000553983,;CTD-2302E22.5,upstream_gene_variant,,ENST00000603606,;HSPE1P2,upstream_gene_variant,,ENST00000554777,;							MODERATE	881/1164	G294E	WDR89_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000267522		CCDS9759.1			1	
ZNF626	0	LGGM	GRCh37	19	20808128	20808128	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	23	5	.	.	ENST00000601440.1:c.555C>T	p.Phe185=	p.F185=	ENST00000601440	NM_001076675.2	185	ttC/ttT	0	1	1	UPI000035E843	0		ENST00000601440		ENSG00000188171	30461		28			HGNC	p.F185F		ZNF626		SNV							ENST00000601440	protein_coding			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		F		A		702/5963				M0QY39_HUMAN,I0CMK8_HUMAN			YES	ZNF626,synonymous_variant,p.=,ENST00000601440,NM_001076675.2;ZNF626,synonymous_variant,p.=,ENST00000595405,;CTC-513N18.7,intron_variant,,ENST00000595094,;							LOW	555/1587		ZN626_HUMAN			Transcript			.	ENSP00000469958		CCDS42535.1			1	
AOX1	0	LGGM	GRCh37	2	201478661	201478661	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	23	5	.	.	ENST00000374700.2:c.1583T>A	p.Leu528Gln	p.L528Q	ENST00000374700	NM_001159.3	528	cTg/cAg	0	1	1	UPI0000071863	0	getma.org/pdb.php?prot=ADO_HUMAN&from=426&to=530&var=L528Q	ENST00000374700		ENSG00000138356	553		28	2.67		HGNC	p.L528Q		AOX1		SNV							ENST00000374700	protein_coding	getma.org/?cm=var&var=hg19,2,201478661,T,A&fts=all		hmmpanther:PTHR11908,Gene3D:3.30.390.50,Pfam_domain:PF03450,TIGRFAM_domain:TIGR02969,SMART_domains:SM01092,PIRSF_domain:PIRSF000127,Superfamily_domains:SSF55447		L/Q		A	medium	1824/5070		getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=426&re=530&var=L528Q	deleterious(0)	C9J244_HUMAN,B4DNI5_HUMAN			YES	AOX1,missense_variant,p.Leu528Gln,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,;							MODERATE	1583/4017	L528Q	ADO_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000363832		CCDS33360.1			1	
CAPRIN1	0	LGGM	GRCh37	11	34074030	34074030	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	14	5	.	.	ENST00000341394.4:c.63G>T	p.Ser21=	p.S21=	ENST00000341394	NM_005898.4	21	tcG/tcT	0	1	1	UPI0000251DB5	0		ENST00000341394		ENSG00000135387	6743		19			HGNC	p.S21S		CAPRIN1		SNV							ENST00000532230	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF3		S		T		252/4108				G3V153_HUMAN,E9PLA9_HUMAN			YES	CAPRIN1,synonymous_variant,p.=,ENST00000341394,NM_005898.4;CAPRIN1,synonymous_variant,p.=,ENST00000389645,NM_203364.2;CAPRIN1,synonymous_variant,p.=,ENST00000530820,;CAPRIN1,synonymous_variant,p.=,ENST00000532820,;CAPRIN1,synonymous_variant,p.=,ENST00000534825,;CAPRIN1,upstream_gene_variant,,ENST00000529307,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000528856,;CAPRIN1,non_coding_transcript_exon_variant,,ENST00000526477,;CAPRIN1,intron_variant,,ENST00000534042,;CAPRIN1,upstream_gene_variant,,ENST00000530008,;CAPRIN1,upstream_gene_variant,,ENST00000532755,;CAPRIN1,upstream_gene_variant,,ENST00000533641,;CAPRIN1,upstream_gene_variant,,ENST00000526494,;							LOW	63/2130		CAPR1_HUMAN			Transcript			.	ENSP00000340329		CCDS31453.1			1	
ZNHIT6	0	LGGM	GRCh37	1	86142980	86142980	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	13	5	.	.	ENST00000370574.3:c.1186C>G	p.Arg396Gly	p.R396G	ENST00000370574		396	Cgc/Ggc	0	1	1	UPI000006D8D2	0	NA	ENST00000370574		ENSG00000117174	26089		18	0.55		HGNC	p.R396G		ZNHIT6		SNV							ENST00000370574	protein_coding	getma.org/?cm=var&var=hg19,1,86142980,G,C&fts=all		hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF3		R/G		C	neutral	1320/2797		getma.org/?cm=msa&ty=f&p=BCD1_HUMAN&rb=247&re=446&var=R396G	tolerated(0.35)				YES	ZNHIT6,missense_variant,p.Arg357Gly,ENST00000431532,NM_001170670.1,NM_017953.3;ZNHIT6,missense_variant,p.Arg396Gly,ENST00000370574,;							MODERATE	1186/1413	R396G	BCD1_HUMAN			Transcript		benign(0.145)	.	ENSP00000359606		CCDS707.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186925364	186925364	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	61	5	.	.	ENST00000367466.3:c.1467A>T	p.Val489=	p.V489=	ENST00000367466	NM_024420.2	489	gtA/gtT	0	1	1	UPI0000203D76	0		ENST00000367466		ENSG00000116711	9035		66			HGNC	p.V489V		PLA2G4A		SNV							ENST00000367466	protein_coding			Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00022,Superfamily_domains:SSF52151		V		T		1619/2875							YES	PLA2G4A,synonymous_variant,p.=,ENST00000367466,NM_024420.2;PLA2G4A,synonymous_variant,p.=,ENST00000442353,;							LOW	1467/2250		PA24A_HUMAN			Transcript			.	ENSP00000356436		CCDS1372.1			1	
FSHB	0	LGGM	GRCh37	11	30255161	30255161	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	31	5	.	.	ENST00000417547.1:c.204A>C	p.Thr68=	p.T68=	ENST00000417547	NM_001018080.1	68	acA/acC	0	1		UPI000003FF95	0		ENST00000254122		ENSG00000131808	3964		36			HGNC	p.T68T		FSHB		SNV			1				ENST00000254122	protein_coding			hmmpanther:PTHR11515:SF6,hmmpanther:PTHR11515,Gene3D:2.10.90.10,Pfam_domain:PF00007,SMART_domains:SM00068,Superfamily_domains:SSF57501		T		C		273/1698				Q27RP3_HUMAN,Q1W658_HUMAN				FSHB,synonymous_variant,p.=,ENST00000417547,NM_001018080.1;FSHB,synonymous_variant,p.=,ENST00000254122,NM_000510.2;FSHB,synonymous_variant,p.=,ENST00000533718,;							LOW	204/390		FSHB_HUMAN			Transcript			.	ENSP00000254122		CCDS7868.1			1	
GRIN2B	0	LGGM	GRCh37	12	14018831	14018831	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	51	5	.	.	ENST00000609686.1:c.312C>A	p.Asp104Glu	p.D104E	ENST00000609686	NM_000834.3	104	gaC/gaA	0	1	1	UPI000013026C	0	getma.org/pdb.php?prot=NMDE2_HUMAN&from=66&to=319&var=D104E	ENST00000609686		ENSG00000273079	4586		56	2.56		HGNC	p.D104E		GRIN2B		SNV			1				ENST00000279593	protein_coding	getma.org/?cm=var&var=hg19,12,14018831,G,T&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF16,Superfamily_domains:SSF53822		D/E		T	medium	522/27217		getma.org/?cm=msa&ty=f&p=NMDE2_HUMAN&rb=66&re=319&var=D104E	tolerated(0.07)	Q59HA9_HUMAN			YES	GRIN2B,missense_variant,p.Asp104Glu,ENST00000609686,NM_000834.3;							MODERATE	312/4455	D104E	NMDE2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000477455		CCDS8662.1			1	
CLCN5	0	LGGM	GRCh37	X	49855443	49855443	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	16	6	.	.	ENST00000376088.3:c.2260G>T	p.Asp754Tyr	p.D754Y	ENST00000376088	NM_001127899.2	754	Gat/Tat	0	1		UPI0000127A9B	0	getma.org/pdb.php?prot=CLCN5_HUMAN&from=679&to=734&var=D684Y	ENST00000307367		ENSG00000171365	2023		22	2.91		HGNC	p.D684Y		CLCN5		SNV			1				ENST00000376108	protein_coding	getma.org/?cm=var&var=hg19,X,49855443,G,T&fts=all		Gene3D:3.10.580.10,Pfam_domain:PF00571,PROSITE_profiles:PS51371,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Superfamily_domains:SSF54631		D/Y		T	medium	2341/3177		getma.org/?cm=msa&ty=f&p=CLCN5_HUMAN&rb=679&re=734&var=D684Y	deleterious(0)					CLCN5,missense_variant,p.Asp754Tyr,ENST00000376088,NM_001127899.2,NM_001127898.2;CLCN5,missense_variant,p.Asp684Tyr,ENST00000307367,;CLCN5,missense_variant,p.Asp754Tyr,ENST00000376091,;CLCN5,missense_variant,p.Asp684Tyr,ENST00000376108,NM_000084.3;							MODERATE	2050/2241	D684Y	CLCN5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304257		CCDS14328.1			1	
KPNA5	0	LGGM	GRCh37	6	117013263	117013263	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	18	6	.	.	ENST00000368564.1:c.184A>G	p.Met62Val	p.M62V	ENST00000368564		62	Atg/Gtg	0	1		UPI000000DBE6	0	NA	ENST00000356348		ENSG00000196911	6398		24	1.175		HGNC	p.M62V		KPNA5		SNV							ENST00000368564	protein_coding	getma.org/?cm=var&var=hg19,6,117013263,A,G&fts=all		hmmpanther:PTHR23316:SF10,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF01749,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371		M/V		G	low	315/2157		getma.org/?cm=msa&ty=f&p=IMA5_HUMAN&rb=2&re=94&var=M59V	tolerated(0.32)	Q5TD90_HUMAN				KPNA5,missense_variant,p.Met62Val,ENST00000368564,;KPNA5,missense_variant,p.Met62Val,ENST00000356348,NM_002269.2;KPNA5,missense_variant,p.Met59Val,ENST00000413340,;							MODERATE	184/1620	M59V	IMA6_HUMAN			Transcript		benign(0.012)	.	ENSP00000348704		CCDS5111.1			1	
C9orf72	0	LGGM	GRCh37	9	27562427	27562427	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	19	6	.	.	ENST00000380003.3:c.552G>A	p.Met184Ile	p.M184I	ENST00000380003	NM_001256054.1	184	atG/atA	0	1	1	UPI00001D3FEF	0	NA	ENST00000380003		ENSG00000147894	28337		25	0.695		HGNC	p.M184I		C9orf72		SNV			1				ENST00000380003	protein_coding	getma.org/?cm=var&var=hg19,9,27562427,C,T&fts=all		hmmpanther:PTHR31855,hmmpanther:PTHR31855:SF1,Pfam_domain:PF15019		M/I		T	neutral	616/3200		getma.org/?cm=msa&ty=f&p=CI072_HUMAN&rb=1&re=200&var=M184I	tolerated(0.41)	Q9NUW0_HUMAN			YES	C9orf72,missense_variant,p.Met184Ile,ENST00000380003,NM_001256054.1,NM_018325.3;C9orf72,missense_variant,p.Met184Ile,ENST00000379997,NM_145005.5;C9orf72,missense_variant,p.Met184Ile,ENST00000379995,;C9orf72,non_coding_transcript_exon_variant,,ENST00000488117,;C9orf72,non_coding_transcript_exon_variant,,ENST00000461679,;							MODERATE	552/1446	M184I	CI072_HUMAN			Transcript		benign(0.003)	.	ENSP00000369339		CCDS6522.1			1	
ZIC2	0	LGGM	GRCh37	13	100637611	100637611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	19	6	.	.	ENST00000376335.3:c.1274C>A	p.Ser425Tyr	p.S425Y	ENST00000376335	NM_007129.3	425	tCc/tAc	0	1	1	UPI000013C3DC	0	NA	ENST00000376335		ENSG00000043355	12873		25	1.52		HGNC	p.S425Y		ZIC2		SNV			1				ENST00000376335	protein_coding	getma.org/?cm=var&var=hg19,13,100637611,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF27		S/Y		A	low	1567/2974		getma.org/?cm=msa&ty=f&p=ZIC2_HUMAN&rb=416&re=532&var=S425Y	deleterious(0)				YES	ZIC2,missense_variant,p.Ser425Tyr,ENST00000376335,NM_007129.3;ZIC2,non_coding_transcript_exon_variant,,ENST00000477213,;ZIC2,non_coding_transcript_exon_variant,,ENST00000490085,;ZIC2,non_coding_transcript_exon_variant,,ENST00000468291,;ZIC2,upstream_gene_variant,,ENST00000481565,;							MODERATE	1274/1599	S425Y	ZIC2_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000365514		CCDS9495.1			1	
LIPI	0	LGGM	GRCh37	21	15561651	15561651	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	31	6	.	.	ENST00000344577.2:c.199A>G	p.Met67Val	p.M67V	ENST00000344577	NM_198996.2	67	Atg/Gtg	0	1	1	UPI000015F82D	0	getma.org/pdb.php?prot=LIPI_HUMAN&from=8&to=334&var=M46V	ENST00000344577		ENSG00000188992	18821		37	0.925		HGNC	p.M46V		LIPI		SNV			1				ENST00000536861	protein_coding	getma.org/?cm=var&var=hg19,21,15561651,T,C&fts=all		hmmpanther:PTHR11610:SF84,hmmpanther:PTHR11610,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474		M/V		C	low	225/1652		getma.org/?cm=msa&ty=f&p=LIPI_HUMAN&rb=8&re=334&var=M46V	deleterious(0)				YES	LIPI,missense_variant,p.Met67Val,ENST00000344577,NM_198996.2;LIPI,missense_variant,p.Met46Val,ENST00000536861,;LIPI,upstream_gene_variant,,ENST00000400211,;							MODERATE	199/1446	M46V	LIPI_HUMAN			Transcript		benign(0.124)	.	ENSP00000343331		CCDS13564.1			1	
GHR	0	LGGM	GRCh37	5	42718749	42718749	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	64	6	.	.	ENST00000230882.4:c.1140G>A	p.Lys380=	p.K380=	ENST00000230882	NM_001242406.2	380	aaG/aaA	0	1	1	UPI000012B416	0		ENST00000230882		ENSG00000112964	4263		70			HGNC	p.K380K		GHR		SNV			1				ENST00000230882	protein_coding			Pfam_domain:PF12772,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF74		K		A		1330/4560				Q9NRZ8_HUMAN,Q9HCW9_HUMAN,F5H7X2_HUMAN			YES	GHR,synonymous_variant,p.=,ENST00000230882,NM_001242406.2,NM_000163.4,NM_001242399.2,NM_001242401.3,NM_001242405.2,NM_001242404.2,NM_001242400.2,NM_001242403.2,NM_001242402.2;GHR,synonymous_variant,p.=,ENST00000357703,NM_001242460.1;GHR,synonymous_variant,p.=,ENST00000537449,;GHR,non_coding_transcript_exon_variant,,ENST00000513625,;GHR,3_prime_UTR_variant,,ENST00000511135,;							LOW	1140/1917		GHR_HUMAN			Transcript			.	ENSP00000230882		CCDS3940.1			1	
PTCHD4	0	LGGM	GRCh37	6	48036233	48036233	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	10	6	.	.	ENST00000339488.4:c.159A>T	p.Thr53=	p.T53=	ENST00000339488	NM_001013732.3	53	acA/acT	0	1	1	UPI000179A8D3	0		ENST00000339488		ENSG00000244694	21345		16			HGNC	p.T53T		PTCHD4		SNV							ENST00000339488	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15		T		A		193/2850				B2RPC0_HUMAN			YES	PTCHD4,synonymous_variant,p.=,ENST00000398738,NM_207499.2;PTCHD4,synonymous_variant,p.=,ENST00000543600,;PTCHD4,synonymous_variant,p.=,ENST00000339488,NM_001013732.3;							LOW	159/2541		PTHD4_HUMAN			Transcript			.	ENSP00000341914		CCDS34473.2			1	
ANKRD11	0	LGGM	GRCh37	16	89351686	89351686	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	30	6	.	.	ENST00000301030.4:c.1264A>T	p.Thr422Ser	p.T422S	ENST00000301030	NM_001256183.1	422	Aca/Tca	0	1	1	UPI00004569E1	0	NA	ENST00000301030		ENSG00000167522	21316		36	0.69		HGNC	p.T422S		ANKRD11		SNV			1				ENST00000301030	protein_coding	getma.org/?cm=var&var=hg19,16,89351686,T,A&fts=all		hmmpanther:PTHR24145		T/S		A	neutral	1725/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=360&re=428&var=T422S					YES	ANKRD11,missense_variant,p.Thr422Ser,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Thr422Ser,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;							MODERATE	1264/7992	T422S	ANR11_HUMAN			Transcript		benign(0.027)	.	ENSP00000301030		CCDS32513.1			1	
OR8K5	0	LGGM	GRCh37	11	55927488	55927488	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	77	6	.	.	ENST00000313447.1:c.306A>T	p.Ala102=	p.A102=	ENST00000313447	NM_001004058.2	102	gcA/gcT	0	1	1	UPI000004B231	0		ENST00000313447		ENSG00000181752	15315		83			HGNC	p.A102A		OR8K5		SNV							ENST00000313447	protein_coding			Prints_domain:PR00245,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF60,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		A		A		306/924							YES	OR8K5,synonymous_variant,p.=,ENST00000313447,NM_001004058.2;							LOW	306/924		OR8K5_HUMAN			Transcript			.	ENSP00000323853		CCDS31521.1			1	
ABCD3	0	LGGM	GRCh37	1	94946069	94946069	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	41	7	.	.	ENST00000370214.4:c.734C>T	p.Thr245Ile	p.T245I	ENST00000370214	NM_002858.3	245	aCt/aTt	0	1	1	UPI000004C4C7	0	NA	ENST00000370214		ENSG00000117528	67		48	2.81		HGNC	p.T269I		ABCD3		SNV							ENST00000454898	protein_coding	getma.org/?cm=var&var=hg19,1,94946069,C,T&fts=all		PROSITE_profiles:PS50929,hmmpanther:PTHR11384:SF26,hmmpanther:PTHR11384,Pfam_domain:PF06472,TIGRFAM_domain:TIGR00954,Superfamily_domains:SSF90123		T/I		T	medium	758/3538		getma.org/?cm=msa&ty=f&p=ABCD3_HUMAN&rb=57&re=338&var=T245I	deleterious(0)	F5GYC1_HUMAN			YES	ABCD3,missense_variant,p.Thr245Ile,ENST00000370214,NM_002858.3;ABCD3,missense_variant,p.Thr245Ile,ENST00000394233,;ABCD3,missense_variant,p.Thr172Ile,ENST00000536817,;ABCD3,missense_variant,p.Thr269Ile,ENST00000454898,;ABCD3,downstream_gene_variant,,ENST00000315713,NM_001122674.1;ABCD3,non_coding_transcript_exon_variant,,ENST00000493416,;ABCD3,upstream_gene_variant,,ENST00000484213,;ABCD3,downstream_gene_variant,,ENST00000468860,;							MODERATE	734/1980	T245I	ABCD3_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000359233		CCDS749.1			1	
KCTD15	0	LGGM	GRCh37	19	34292147	34292147	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	41	7	.	.	ENST00000430256.3:c.142C>T	p.Pro48Ser	p.P48S	ENST00000430256		48	Cca/Tca	0	1	1	UPI000004D340	0	NA	ENST00000430256		ENSG00000153885	23297		48	0.975		HGNC	p.P48S		KCTD15		SNV							ENST00000588881	protein_coding	getma.org/?cm=var&var=hg19,19,34292147,C,T&fts=all		hmmpanther:PTHR14499:SF27,hmmpanther:PTHR14499		P/S		T	low	550/2555		getma.org/?cm=msa&ty=f&p=KCD15_HUMAN&rb=1&re=57&var=P48S	tolerated(0.07)	K7EQS3_HUMAN,K7EPF0_HUMAN,K7EN63_HUMAN,K7EM48_HUMAN,K7EIF1_HUMAN			YES	KCTD15,missense_variant,p.Pro48Ser,ENST00000284006,NM_001129994.1,NM_024076.2,NM_001129995.1;KCTD15,missense_variant,p.Pro48Ser,ENST00000430256,;KCTD15,missense_variant,p.Pro48Ser,ENST00000589786,;KCTD15,missense_variant,p.Pro48Ser,ENST00000588881,;KCTD15,missense_variant,p.Pro48Ser,ENST00000587658,;KCTD15,missense_variant,p.Pro48Ser,ENST00000587559,;KCTD15,missense_variant,p.Pro48Ser,ENST00000590771,;KCTD15,missense_variant,p.Pro48Ser,ENST00000588637,;KCTD15,missense_variant,p.Pro48Ser,ENST00000590906,;KCTD15,non_coding_transcript_exon_variant,,ENST00000592210,;							MODERATE	142/852	P48S	KCD15_HUMAN			Transcript		possibly_damaging(0.489)	.	ENSP00000394390		CCDS46039.1			1	
SMAD5	0	LGGM	GRCh37	5	135489586	135489586	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	81	7	.	.	ENST00000545279.1:c.137A>T	p.Lys46Met	p.K46M	ENST00000545279	NM_001001419.1	46	aAg/aTg	0	1	1	UPI000013C952	0	getma.org/pdb.php?prot=SMAD5_HUMAN&from=31&to=132&var=K46M	ENST00000545279		ENSG00000113658	6771		88	2.945		HGNC	p.K46M		SMAD5		SNV							ENST00000545279	protein_coding	getma.org/?cm=var&var=hg19,5,135489586,A,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51075,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF36,Gene3D:1ozjA00,Pfam_domain:PF03165,SMART_domains:SM00523,Superfamily_domains:0040928		K/M		T	medium	497/7009		getma.org/?cm=msa&ty=f&p=SMAD5_HUMAN&rb=31&re=132&var=K46M	deleterious(0)	Q68DB7_HUMAN,F5GWU7_HUMAN,D6RIZ9_HUMAN,D6RBB4_HUMAN,D6R9D4_HUMAN			YES	SMAD5,missense_variant,p.Lys46Met,ENST00000545279,NM_001001419.1,NM_005903.5;SMAD5,missense_variant,p.Lys46Met,ENST00000545620,NM_001001420.1;SMAD5,missense_variant,p.Lys46Met,ENST00000511116,;SMAD5,missense_variant,p.Lys46Met,ENST00000507118,;SMAD5,missense_variant,p.Lys46Met,ENST00000506223,;SMAD5,downstream_gene_variant,,ENST00000509297,;SMAD5,downstream_gene_variant,,ENST00000515005,;SMAD5,non_coding_transcript_exon_variant,,ENST00000514641,;SMAD5,intron_variant,,ENST00000514777,;SMAD5,downstream_gene_variant,,ENST00000509962,;SMAD5,downstream_gene_variant,,ENST00000507245,;							MODERATE	137/1395	K46M	SMAD5_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000441954					1	
SAMD9	0	LGGM	GRCh37	7	92734914	92734914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	53	7	.	.	ENST00000379958.2:c.497T>C	p.Phe166Ser	p.F166S	ENST00000379958	NM_017654.3	166	tTt/tCt	0	1	1	UPI0000038BC6	0	NA	ENST00000379958		ENSG00000205413	1348		60	1.87		HGNC	p.F166S	rs761313894	SAMD9		SNV			1				ENST00000379958	protein_coding	getma.org/?cm=var&var=hg19,7,92734914,A,G&fts=all		hmmpanther:PTHR16155:SF17,hmmpanther:PTHR16155		F/S		G	low	767/6852		getma.org/?cm=msa&ty=f&p=SAMD9_HUMAN&rb=75&re=274&var=F166S	deleterious(0)	C9JKF1_HUMAN			YES	SAMD9,missense_variant,p.Phe166Ser,ENST00000379958,NM_017654.3,NM_001193307.1;SAMD9,missense_variant,p.Phe166Ser,ENST00000446617,;							MODERATE	497/4770	F166S	SAMD9_HUMAN	0.000151		Transcript		probably_damaging(0.999)	.	ENSP00000369292	8.24E-06	CCDS34680.1			1	
SLC45A3	0	LGGM	GRCh37	1	205631244	205631244	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	6	7	.	.	ENST00000367145.3:c.969G>A	p.Met323Ile	p.M323I	ENST00000367145	NM_033102.2	323	atG/atA	0	1	1	UPI0000039836	0	NA	ENST00000367145		ENSG00000158715	8642		13	2.11		HGNC	p.M323I		SLC45A3		SNV							ENST00000367145	protein_coding	getma.org/?cm=var&var=hg19,1,205631244,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		M/I		T	medium	1265/3341		getma.org/?cm=msa&ty=f&p=S45A3_HUMAN&rb=309&re=508&var=M323I	deleterious(0.05)	Q658X7_HUMAN,A8K2U9_HUMAN			YES	SLC45A3,missense_variant,p.Met323Ile,ENST00000367145,NM_033102.2;SLC45A3,non_coding_transcript_exon_variant,,ENST00000460934,;							MODERATE	969/1662	M323I	S45A3_HUMAN			Transcript		benign(0.083)	.	ENSP00000356113		CCDS1458.1			1	
FLG2	0	LGGM	GRCh37	1	152328674	152328674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	216	7	.	.	ENST00000388718.5:c.1588G>T	p.Gly530Cys	p.G530C	ENST00000388718	NM_001014342.2	530	Ggt/Tgt	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		223	2.085		HGNC	p.G530C		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152328674,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G/C		A	medium	1661/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=461&re=1139&var=G530C					YES	FLG2,missense_variant,p.Gly530Cys,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	1588/7176	G530C	FILA2_HUMAN			Transcript		unknown(0)	.	ENSP00000373370		CCDS30861.1			1	
SMAD7	0	LGGM	GRCh37	18	46448186	46448186	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	22	7	.	.	ENST00000262158.2:c.837C>T	p.Val279=	p.V279=	ENST00000262158	NM_001190821.1	279	gtC/gtT	0	1	1	UPI0000135A83	0		ENST00000262158		ENSG00000101665	6773		29			HGNC	p.V64V		SMAD7		SNV			1				ENST00000586093	protein_coding			PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879		V		A		1124/3087				K7EKF0_HUMAN			YES	SMAD7,synonymous_variant,p.=,ENST00000262158,NM_001190821.1,NM_005904.3;SMAD7,synonymous_variant,p.=,ENST00000589634,;SMAD7,synonymous_variant,p.=,ENST00000591805,NM_001190822.1;SMAD7,synonymous_variant,p.=,ENST00000586093,;SMAD7,non_coding_transcript_exon_variant,,ENST00000585986,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,non_coding_transcript_exon_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,;							LOW	837/1281		SMAD7_HUMAN			Transcript			.	ENSP00000262158		CCDS11936.1			1	
LRP6	0	LGGM	GRCh37	12	12311868	12311868	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	38	7	.	.	ENST00000261349.4:c.2686A>G	p.Ser896Gly	p.S896G	ENST00000261349	NM_002336.2	896	Agc/Ggc	0	1	1	UPI00001FB66C	0	getma.org/pdb.php?prot=LRP6_HUMAN&from=889&to=930&var=S896G	ENST00000261349		ENSG00000070018	6698		45	0.155		HGNC	p.S896G		LRP6		SNV			1				ENST00000261349	protein_coding	getma.org/?cm=var&var=hg19,12,12311868,T,C&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,PIRSF_domain:PIRSF036314,Pfam_domain:PF14670,Gene3D:2.10.25.10,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529		S/G		C	neutral	2763/10020		getma.org/?cm=msa&ty=f&p=LRP6_HUMAN&rb=889&re=930&var=S896G	tolerated(0.09)	F5H0Z3_HUMAN,B3KQA9_HUMAN			YES	LRP6,missense_variant,p.Ser896Gly,ENST00000261349,NM_002336.2;LRP6,missense_variant,p.Ser896Gly,ENST00000543091,;LRP6,missense_variant,p.Ser761Gly,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;RP11-267J23.1,downstream_gene_variant,,ENST00000472093,;							MODERATE	2686/4842	S896G	LRP6_HUMAN			Transcript		benign(0)	.	ENSP00000261349		CCDS8647.1			1	
ANKRD11	0	LGGM	GRCh37	16	89351687	89351687	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	31	7	.	.	ENST00000301030.4:c.1263G>T	p.Gly421=	p.G421=	ENST00000301030	NM_001256183.1	421	ggG/ggT	0	1	1	UPI00004569E1	0		ENST00000301030		ENSG00000167522	21316		38			HGNC	p.G421G		ANKRD11		SNV			1				ENST00000301030	protein_coding			hmmpanther:PTHR24145		G		A		1724/9301							YES	ANKRD11,synonymous_variant,p.=,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,synonymous_variant,p.=,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000568100,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;							LOW	1263/7992		ANR11_HUMAN			Transcript			.	ENSP00000301030		CCDS32513.1			1	
ZNF676	0	LGGM	GRCh37	19	22363703	22363703	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	52	7	.	.	ENST00000397121.2:c.816G>A	p.Lys272=	p.K272=	ENST00000397121	NM_001001411.2	272	aaG/aaA	0	1	1	UPI00002376EC	0		ENST00000397121		ENSG00000196109	20429		59			HGNC	p.K272K		ZNF676		SNV							ENST00000397121	protein_coding			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		K		T		1134/2944							YES	ZNF676,synonymous_variant,p.=,ENST00000397121,NM_001001411.2;							LOW	816/1767		ZN676_HUMAN			Transcript			.	ENSP00000380310		CCDS42539.1			1	
BRINP3	0	LGGM	GRCh37	1	190067529	190067529	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	128	8	.	.	ENST00000367462.3:c.1920T>A	p.Gly640=	p.G640=	ENST00000367462	NM_199051.1	640	ggT/ggA	0	1	1	UPI00001C1D9A	0		ENST00000367462		ENSG00000162670	22393		136			HGNC	p.G640G		BRINP3		SNV							ENST00000367462	protein_coding			hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		G		T		2152/2889							YES	BRINP3,synonymous_variant,p.=,ENST00000367462,NM_199051.1;BRINP3,synonymous_variant,p.=,ENST00000534846,;							LOW	1920/2301		BRNP3_HUMAN			Transcript			.	ENSP00000356432		CCDS1373.1			1	
IGLV3-9	0	LGGM	GRCh37	22	23162132	23162132	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	46	8	.	.	ENST00000390316.2:c.225G>T	p.Gly75=	p.G75=	ENST00000390316		75	ggG/ggT	0	1	1	UPI0000EE5A41	0		ENST00000390316		ENSG00000211670	5918		54			HGNC	p.G75G	rs372524183	IGLV3-9		SNV	A:0						ENST00000390316	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF51,hmmpanther:PTHR23267,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		G	A:0.0001	T		340/461				A2MYD5_HUMAN			YES	IGLV3-9,synonymous_variant,p.=,ENST00000390316,;IGLV2-8,upstream_gene_variant,,ENST00000390317,;MIR650,upstream_gene_variant,,ENST00000385101,;LL22NC03-84E4.11,downstream_gene_variant,,ENST00000423259,;							LOW	225/346					Transcript			.	ENSP00000374851					1	
DSCAM	0	LGGM	GRCh37	21	41452207	41452207	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	45	9	.	.	ENST00000400454.1:c.4292C>A	p.Pro1431His	p.P1431H	ENST00000400454	NM_001271534.1	1431	cCc/cAc	0	1	1	UPI00000422DF	0	getma.org/pdb.php?prot=DSCAM_HUMAN&from=1380&to=1463&var=P1431H	ENST00000400454		ENSG00000171587	3039		54	1.625		HGNC	p.P1183H		DSCAM		SNV							ENST00000404019	protein_coding	getma.org/?cm=var&var=hg19,21,41452207,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,SMART_domains:SM00060,Superfamily_domains:SSF49265		P/H		T	low	4770/8552		getma.org/?cm=msa&ty=f&p=DSCAM_HUMAN&rb=1380&re=1463&var=P1431H	tolerated(0.29)				YES	DSCAM,missense_variant,p.Pro1431His,ENST00000400454,NM_001271534.1,NM_001389.3;DSCAM,missense_variant,p.Pro1183His,ENST00000404019,;							MODERATE	4292/6039	P1431H	DSCAM_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000383303		CCDS42929.1			1	
LAMB2	0	LGGM	GRCh37	3	49163414	49163414	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	13	9	.	.	ENST00000418109.1:c.2330A>G	p.Tyr777Cys	p.Y777C	ENST00000418109	NM_002292.3	777	tAc/tGc	0	1		UPI000013EA62	0	NA	ENST00000305544		ENSG00000172037	6487		22	1.355		HGNC	p.Y777C	rs772581224	LAMB2		SNV			1				ENST00000418109	protein_coding	getma.org/?cm=var&var=hg19,3,49163414,T,C&fts=all		PROSITE_profiles:PS51116,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36		Y/C		C	low	2483/5643	3.00E-05	getma.org/?cm=msa&ty=f&p=LAMB2_HUMAN&rb=561&re=777&var=Y777C	deleterious(0)	F5H520_HUMAN				LAMB2,missense_variant,p.Tyr777Cys,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Tyr777Cys,ENST00000305544,;LAMB2,downstream_gene_variant,,ENST00000494831,;LAMB2,non_coding_transcript_exon_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000464891,;LAMB2,non_coding_transcript_exon_variant,,ENST00000493571,;LAMB2,non_coding_transcript_exon_variant,,ENST00000477701,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,upstream_gene_variant,,ENST00000542580,;LAMB2,upstream_gene_variant,,ENST00000538659,;LAMB2,upstream_gene_variant,,ENST00000480640,;LAMB2,upstream_gene_variant,,ENST00000483057,;LAMB2,upstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,downstream_gene_variant,,ENST00000488638,;							MODERATE	2330/5397	Y777C	LAMB2_HUMAN			Transcript		benign(0.438)	.	ENSP00000307156	1.65E-05	CCDS2789.1			1	
DNTTIP1	0	LGGM	GRCh37	20	44432004	44432004	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	21	9	.	.	ENST00000372622.3:c.590G>A	p.Arg197Gln	p.R197Q	ENST00000372622	NM_052951.2	197	cGg/cAg	0	1	1	UPI0000136B4E	0	NA	ENST00000372622		ENSG00000101457	16160		30	2.135		HGNC	p.R197Q	rs777735293	DNTTIP1	6.08E-05	SNV							ENST00000372622	protein_coding	getma.org/?cm=var&var=hg19,20,44432004,G,A&fts=all		hmmpanther:PTHR23399,hmmpanther:PTHR23399:SF1		R/Q		A	medium	658/1290	1.50E-05	getma.org/?cm=msa&ty=f&p=TDIF1_HUMAN&rb=1&re=328&var=R197Q	deleterious(0.04)	F2Z2A4_HUMAN			YES	DNTTIP1,missense_variant,p.Arg197Gln,ENST00000372622,NM_052951.2;DNTTIP1,missense_variant,p.Arg148Gln,ENST00000456939,;DNTTIP1,missense_variant,p.Arg124Gln,ENST00000435014,;DNTTIP1,downstream_gene_variant,,ENST00000415790,;DNTTIP1,non_coding_transcript_exon_variant,,ENST00000467701,;							MODERATE	590/990	R197Q	TDIF1_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000361705	1.65E-05	CCDS13369.1			1	
ACAN	0	LGGM	GRCh37	15	89401610	89401610	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	36	9	.	.	ENST00000439576.2:c.5794C>T	p.Pro1932Ser	p.P1932S	ENST00000439576	NM_013227.3	1932	Ccc/Tcc	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		45	2.815		HGNC	p.P1932S		ACAN		SNV			1				ENST00000559004	protein_coding	getma.org/?cm=var&var=hg19,15,89401610,C,T&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		P/S		T	medium	6168/8840		getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=1674&re=1873&var=P1817S	tolerated(0.1)	Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,missense_variant,p.Pro1932Ser,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Pro1932Ser,ENST00000559004,;ACAN,missense_variant,p.Pro1932Ser,ENST00000561243,;ACAN,missense_variant,p.Pro1932Ser,ENST00000352105,NM_001135.3;ACAN,upstream_gene_variant,,ENST00000560601,;							MODERATE	5794/7593	P1817S				Transcript		possibly_damaging(0.685)	.	ENSP00000387356		CCDS53970.1			1	
PPIAL4A	0	LGGM	GRCh37	1	147955333	147955333	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	32	9	.	.	ENST00000539781.1:c.12C>T	p.Ser4=	p.S4=	ENST00000539781	NM_178230.1	4	tcC/tcT	0	1	1	UPI000006E1D4	0		ENST00000539781		ENSG00000255963	24369		41			HGNC	p.S4S		PPIAL4A		SNV							ENST00000539781	protein_coding			Gene3D:2.40.100.10,PIRSF_domain:PIRSF001467,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF237,Superfamily_domains:SSF50891		S		A		87/785							YES	PPIAL4A,synonymous_variant,p.=,ENST00000539781,NM_178230.1;							LOW	12/495		PAL4A_HUMAN			Transcript			.	ENSP00000439146		CCDS30835.1			1	
ANO1	0	LGGM	GRCh37	11	69950134	69950134	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	44	10	.	.	ENST00000355303.5:c.570C>T	p.Leu190=	p.L190=	ENST00000355303	NM_018043.5	190	ctC/ctT	0	1	1	UPI000013CE03	0		ENST00000355303		ENSG00000131620	21625		54			HGNC	p.L157L		ANO1		SNV							ENST00000531604	protein_coding			hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13		L		T		875/4790							YES	ANO1,synonymous_variant,p.=,ENST00000355303,NM_018043.5;ANO1,synonymous_variant,p.=,ENST00000538023,;ANO1,synonymous_variant,p.=,ENST00000398543,;ANO1,synonymous_variant,p.=,ENST00000530676,;ANO1,synonymous_variant,p.=,ENST00000316296,;ANO1,synonymous_variant,p.=,ENST00000530480,;ANO1,synonymous_variant,p.=,ENST00000531604,;ANO1,upstream_gene_variant,,ENST00000531349,;ANO1,upstream_gene_variant,,ENST00000529913,;							LOW	570/2961		ANO1_HUMAN			Transcript			.	ENSP00000347454		CCDS44663.1			1	
F13A1	0	LGGM	GRCh37	6	6167757	6167757	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	15	10	.	.	ENST00000264870.3:c.1842T>C	p.Asn614=	p.N614=	ENST00000264870	NM_000129.3	614	aaT/aaC	0	1	1	UPI000013D585	0		ENST00000264870		ENSG00000124491	3531		25			HGNC	p.N614N		F13A1		SNV			1				ENST00000264870	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00927,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF42,Superfamily_domains:SSF49309		N		G		2108/3999				Q9NQP5_HUMAN			YES	F13A1,synonymous_variant,p.=,ENST00000264870,NM_000129.3;MIR5683,upstream_gene_variant,,ENST00000584820,;							LOW	1842/2199		F13A_HUMAN			Transcript			.	ENSP00000264870		CCDS4496.1			1	
C1orf110	0	LGGM	GRCh37	1	162829339	162829339	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	74	10	.	.	ENST00000367910.1:c.98A>T	p.Gln33Leu	p.Q33L	ENST00000367910	NM_178550.4	33	cAg/cTg	0	1	1	UPI0000198631	0	NA	ENST00000367910		ENSG00000185860	28736		84	1.725		HGNC	p.Q33L		C1orf110		SNV							ENST00000367910	protein_coding	getma.org/?cm=var&var=hg19,1,162829339,T,A&fts=all		Coiled-coils_(Ncoils):Coil		Q/L		A	low	219/1498		getma.org/?cm=msa&ty=f&p=CA110_HUMAN&rb=1&re=139&var=Q33L	tolerated(0.07)				YES	C1orf110,missense_variant,p.Gln33Leu,ENST00000367912,;C1orf110,missense_variant,p.Gln33Leu,ENST00000367910,NM_178550.4;C1orf110,missense_variant,p.Gln29Leu,ENST00000367911,;C1orf110,upstream_gene_variant,,ENST00000524691,;C1orf110,upstream_gene_variant,,ENST00000524710,;							MODERATE	98/909	Q33L	CA110_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000356886		CCDS44269.1			1	
SLIT2	0	LGGM	GRCh37	4	20597351	20597351	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	118	10	.	.	ENST00000504154.1:c.3214C>T	p.His1072Tyr	p.H1072Y	ENST00000504154	NM_004787.1	1072	Cac/Tac	0	1	1	UPI00000747E4	0	NA	ENST00000504154		ENSG00000145147	11086		128	0.845		HGNC	p.H1072Y		SLIT2		SNV							ENST00000504154	protein_coding	getma.org/?cm=var&var=hg19,4,20597351,C,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,Pfam_domain:PF00008,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196,Superfamily_domains:SSF57196		H/Y		T	low	3466/6390		getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=1040&re=1072&var=H1072Y	tolerated(0.1)	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,missense_variant,p.His1072Tyr,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.His1064Tyr,ENST00000503823,;SLIT2,missense_variant,p.His1085Tyr,ENST00000273739,;SLIT2,missense_variant,p.His1068Tyr,ENST00000503837,;SLIT2,upstream_gene_variant,,ENST00000512993,;							MODERATE	3214/4590	H1072Y	SLIT2_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000422591		CCDS3426.1			1	
CSTF1	0	LGGM	GRCh37	20	54970721	54970721	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	31	10	.	.	ENST00000217109.4:c.113T>C	p.Ile38Thr	p.I38T	ENST00000217109	NM_001324.2	38	aTc/aCc	0	1	1	UPI0000000C1E	0	getma.org/pdb.php?prot=CSTF1_HUMAN&from=1&to=83&var=I38T	ENST00000217109		ENSG00000101138	2483		41	0.345		HGNC	p.I38T		CSTF1		SNV							ENST00000452950	protein_coding	getma.org/?cm=var&var=hg19,20,54970721,T,C&fts=all		hmmpanther:PTHR22840		I/T		C	neutral	465/2383		getma.org/?cm=msa&ty=f&p=CSTF1_HUMAN&rb=1&re=83&var=I38T	tolerated(0.2)	A3KFI9_HUMAN			YES	CSTF1,missense_variant,p.Ile38Thr,ENST00000217109,NM_001324.2,NM_001033521.1;CSTF1,missense_variant,p.Ile38Thr,ENST00000415828,;CSTF1,missense_variant,p.Ile38Thr,ENST00000452950,NM_001033522.1;CSTF1,missense_variant,p.Ile38Thr,ENST00000428552,;AURKA,upstream_gene_variant,,ENST00000395909,NM_198433.1;AURKA,upstream_gene_variant,,ENST00000347343,NM_003600.2;AURKA,upstream_gene_variant,,ENST00000395914,NM_198434.1;AURKA,upstream_gene_variant,,ENST00000312783,NM_198436.1;AURKA,upstream_gene_variant,,ENST00000395913,;AURKA,upstream_gene_variant,,ENST00000395911,;AURKA,upstream_gene_variant,,ENST00000395915,NM_198437.1,NM_198435.1;AURKA,upstream_gene_variant,,ENST00000371356,;AURKA,upstream_gene_variant,,ENST00000395907,;AURKA,upstream_gene_variant,,ENST00000441357,;AURKA,upstream_gene_variant,,ENST00000420474,;AURKA,upstream_gene_variant,,ENST00000456249,;AURKA,upstream_gene_variant,,ENST00000422322,;AURKA,upstream_gene_variant,,ENST00000451915,;CSTF1,non_coding_transcript_exon_variant,,ENST00000493039,;CSTF1,non_coding_transcript_exon_variant,,ENST00000490539,;CSTF1,non_coding_transcript_exon_variant,,ENST00000498689,;							MODERATE	113/1296	I38T	CSTF1_HUMAN			Transcript		benign(0.001)	.	ENSP00000217109		CCDS13452.1			1	
ANKRD36C	0	LGGM	GRCh37	2	96581746	96581746	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	38	11	.	.	ENST00000456556.1:c.2431G>T	p.Gly811Ter	p.G811*	ENST00000456556		811	Gga/Tga	0	1	1	UPI00016620F5	0	NA	ENST00000456556		ENSG00000174501	32946		49	0		HGNC	p.G811X		ANKRD36C		SNV							ENST00000456556	protein_coding	getma.org/?cm=var&var=hg19,2,96581746,C,A&fts=all		hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176		G/*		A	NA	2516/5428		NA		I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN				ANKRD36C,stop_gained,p.Gly811Ter,ENST00000456556,;ANKRD36C,5_prime_UTR_variant,,ENST00000419039,;ANKRD36C,5_prime_UTR_variant,,ENST00000420871,;ANKRD36C,5_prime_UTR_variant,,ENST00000295246,;ANKRD36C,3_prime_UTR_variant,,ENST00000534304,;							HIGH	2431/5337	G130*	AN36C_HUMAN			Transcript			.	ENSP00000403302					1	
GOLGA1	0	LGGM	GRCh37	9	127644127	127644127	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	36	11	.	.	ENST00000373555.4:c.2072G>A	p.Arg691His	p.R691H	ENST00000373555	NM_002077.3	691	cGc/cAc	0	1	1	UPI000013D059	0	NA	ENST00000373555		ENSG00000136935	4424		47	0.69		HGNC	p.R691H	rs536815126	GOLGA1		SNV							ENST00000373555	protein_coding	getma.org/?cm=var&var=hg19,9,127644127,C,T&fts=all	T:0	Gene3D:1uptF00,PROSITE_profiles:PS50913,hmmpanther:PTHR23157,hmmpanther:PTHR23157:SF24,SMART_domains:SM00755		R/H		T	neutral	2406/4801		getma.org/?cm=msa&ty=f&p=GOGA1_HUMAN&rb=691&re=735&var=R691H	deleterious(0)	Q5T165_HUMAN	T:0	T:0	YES	GOLGA1,missense_variant,p.Arg691His,ENST00000373555,NM_002077.3;ARPC5L,downstream_gene_variant,,ENST00000353214,;ARPC5L,downstream_gene_variant,,ENST00000259477,NM_030978.1;ARPC5L,downstream_gene_variant,,ENST00000465124,;GOLGA1,3_prime_UTR_variant,,ENST00000475407,;		T:0.0002					MODERATE	2072/2304	R691H	GOGA1_HUMAN		T:0	Transcript		probably_damaging(1)	.	ENSP00000362656		CCDS6860.1		T:0.001	1	
ANKRD36C	0	LGGM	GRCh37	2	96581745	96581745	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	38	11	.	.	ENST00000456556.1:c.2432G>C	p.Gly811Ala	p.G811A	ENST00000456556		811	gGa/gCa	0	1	1	UPI00016620F5	0	NA	ENST00000456556		ENSG00000174501	32946		49	1.395		HGNC	p.G811A		ANKRD36C		SNV							ENST00000456556	protein_coding	getma.org/?cm=var&var=hg19,2,96581745,C,G&fts=all		hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176		G/A		G	low	2517/5428		getma.org/?cm=msa&ty=f&p=H7C425_HUMAN&rb=1&re=200&var=G130A	tolerated_low_confidence(0.29)	I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN				ANKRD36C,missense_variant,p.Gly811Ala,ENST00000456556,;ANKRD36C,5_prime_UTR_variant,,ENST00000419039,;ANKRD36C,5_prime_UTR_variant,,ENST00000420871,;ANKRD36C,5_prime_UTR_variant,,ENST00000295246,;ANKRD36C,3_prime_UTR_variant,,ENST00000534304,;							MODERATE	2432/5337	G130A	AN36C_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000403302					1	
ST14	0	LGGM	GRCh37	11	130064576	130064576	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	21	11	.	.	ENST00000278742.5:c.1057del	p.Ser353AlafsTer26	p.S353Afs*26	ENST00000278742	NM_021978.3	353	Agc/gc	0	1	1	UPI00000012E9	0		ENST00000278742		ENSG00000149418	11344		32			HGNC	p.S255fs		ST14		deletion			1				ENST00000525779	protein_coding			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		S/X		-		1475/3539				Q8WVC1_HUMAN			YES	ST14,frameshift_variant,p.Ser353AlafsTer26,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,;							HIGH	1057/2568		ST14_HUMAN			Transcript			.	ENSP00000278742		CCDS8487.1			1	
TMEM205	0	LGGM	GRCh37	19	11456224	11456224	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	23	12	.	.	ENST00000354882.5:c.72C>T	p.Gly24=	p.G24=	ENST00000354882		24	ggC/ggT	0	1	1	UPI0000048ED7	0		ENST00000354882		ENSG00000105518	29631		35			HGNC	p.G24G		TMEM205		SNV							ENST00000587948	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR23241,Pfam_domain:PF13664		G		A		499/1034				K7ER05_HUMAN,K7EPR0_HUMAN,K7EM09_HUMAN,K7ELQ9_HUMAN,K7EJQ9_HUMAN			YES	TMEM205,synonymous_variant,p.=,ENST00000354882,;TMEM205,synonymous_variant,p.=,ENST00000586956,NM_198536.2;TMEM205,synonymous_variant,p.=,ENST00000447337,NM_033408.3;TMEM205,synonymous_variant,p.=,ENST00000588560,;TMEM205,synonymous_variant,p.=,ENST00000593256,NM_001145416.1;TMEM205,synonymous_variant,p.=,ENST00000589555,;TMEM205,synonymous_variant,p.=,ENST00000587948,;TMEM205,synonymous_variant,p.=,ENST00000586590,;TMEM205,synonymous_variant,p.=,ENST00000591677,;TMEM205,synonymous_variant,p.=,ENST00000590482,;TMEM205,synonymous_variant,p.=,ENST00000592952,;TMEM205,synonymous_variant,p.=,ENST00000590788,;CCDC159,intron_variant,,ENST00000588790,;RAB3D,intron_variant,,ENST00000589655,;TMEM205,intron_variant,,ENST00000586218,;TMEM205,intron_variant,,ENST00000586701,;CCDC159,upstream_gene_variant,,ENST00000458408,NM_001080503.2;CCDC159,upstream_gene_variant,,ENST00000588592,;CCDC159,upstream_gene_variant,,ENST00000591260,;CCDC159,upstream_gene_variant,,ENST00000587531,;CCDC159,upstream_gene_variant,,ENST00000586451,;CCDC159,intron_variant,,ENST00000587100,;CCDC159,intron_variant,,ENST00000589186,;TMEM205,non_coding_transcript_exon_variant,,ENST00000588321,;TMEM205,non_coding_transcript_exon_variant,,ENST00000585722,;CCDC159,upstream_gene_variant,,ENST00000590054,;CCDC159,upstream_gene_variant,,ENST00000588821,;CCDC159,upstream_gene_variant,,ENST00000589016,;CCDC159,upstream_gene_variant,,ENST00000589477,;CCDC159,upstream_gene_variant,,ENST00000590636,;CCDC159,upstream_gene_variant,,ENST00000592723,;CCDC159,upstream_gene_variant,,ENST00000590919,;							LOW	72/570		TM205_HUMAN			Transcript			.	ENSP00000346954		CCDS32909.1			1	
DOCK1	0	LGGM	GRCh37	10	129202640	129202640	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	100	12	.	.	ENST00000280333.6:c.4006C>A	p.Pro1336Thr	p.P1336T	ENST00000280333	NM_001380.3	1336	Cct/Act	0	1	1	UPI0000246CA1	0	getma.org/pdb.php?prot=DOCK1_HUMAN&from=1111&to=1616&var=P1336T	ENST00000280333		ENSG00000150760	2987		112	3.265		HGNC	p.P1336T		DOCK1		SNV							ENST00000280333	protein_coding	getma.org/?cm=var&var=hg19,10,129202640,C,A&fts=all		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79		P/T		A	medium	4115/6797		getma.org/?cm=msa&ty=f&p=DOCK1_HUMAN&rb=1111&re=1616&var=P1336T	deleterious(0)				YES	DOCK1,missense_variant,p.Pro1336Thr,ENST00000280333,NM_001380.3;							MODERATE	4006/5598	P1336T	DOCK1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000280333					1	
STARD4	0	LGGM	GRCh37	5	110836758	110836758	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	67	13	.	.	ENST00000296632.3:c.339A>T	p.Pro113=	p.P113=	ENST00000296632	NM_139164.1	113	ccA/ccT	0	1	1	UPI0000136135	0		ENST00000296632		ENSG00000164211	18058		80			HGNC	p.P113P		STARD4		SNV							ENST00000505803	protein_coding			Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR12136,hmmpanther:PTHR12136:SF46,SMART_domains:SM00234,Superfamily_domains:SSF55961		P		A		474/4606				Q86T95_HUMAN,D6RIC8_HUMAN,B0AZS2_HUMAN			YES	STARD4,synonymous_variant,p.=,ENST00000296632,NM_139164.1;STARD4,synonymous_variant,p.=,ENST00000502322,;STARD4,synonymous_variant,p.=,ENST00000505803,;STARD4,3_prime_UTR_variant,,ENST00000509887,;STARD4,intron_variant,,ENST00000512160,;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,;STARD4,3_prime_UTR_variant,,ENST00000511137,;STARD4,3_prime_UTR_variant,,ENST00000455172,;							LOW	339/618		STAR4_HUMAN			Transcript			.	ENSP00000296632		CCDS4104.1			1	
MCTP2	0	LGGM	GRCh37	15	94841812	94841812	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	34	13	.	.	ENST00000357742.4:c.318C>T	p.Ser106=	p.S106=	ENST00000357742	NM_018349.3	106	agC/agT	0	1	1	UPI0000D613A2	0		ENST00000357742		ENSG00000140563	25636		47			HGNC	p.S106S		MCTP2		SNV			1				ENST00000456504	protein_coding			hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5		S		T		318/3965				Q9NPN6_HUMAN			YES	MCTP2,synonymous_variant,p.=,ENST00000357742,NM_018349.3;MCTP2,synonymous_variant,p.=,ENST00000451018,NM_001159643.1;MCTP2,synonymous_variant,p.=,ENST00000543482,;MCTP2,5_prime_UTR_variant,,ENST00000331706,;MCTP2,non_coding_transcript_exon_variant,,ENST00000561608,;MCTP2,synonymous_variant,p.=,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000556363,;							LOW	318/2637		MCTP2_HUMAN			Transcript			.	ENSP00000350377		CCDS32338.1			1	
PGD	0	LGGM	GRCh37	1	10468127	10468127	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	81	14	.	.	ENST00000270776.8:c.450-1G>A		p.X150_splice	ENST00000270776	NM_002631.2			0	1	1	UPI0000169DB9	0		ENST00000270776		ENSG00000142657	8891		95			HGNC	-		PGD		SNV							ENST00000491493	protein_coding							A		-/1885				K7EMN2_HUMAN,K7EM49_HUMAN,B4DV68_HUMAN,B4DQJ8_HUMAN			YES	PGD,splice_acceptor_variant,,ENST00000538557,;PGD,splice_acceptor_variant,,ENST00000270776,NM_002631.2;PGD,splice_acceptor_variant,,ENST00000541529,;PGD,splice_acceptor_variant,,ENST00000491493,;PGD,splice_acceptor_variant,,ENST00000460189,;PGD,splice_acceptor_variant,,ENST00000465632,;PGD,intron_variant,,ENST00000483936,;PGD,downstream_gene_variant,,ENST00000477958,;PGD,upstream_gene_variant,,ENST00000493288,;							HIGH	450/1452		6PGD_HUMAN			Transcript			.	ENSP00000270776		CCDS113.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73414332	73414332	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	73	14	.	.	ENST00000286657.4:c.367C>T	p.Pro123Ser	p.P123S	ENST00000286657	NM_014243.2	123	Ccc/Tcc	0	1	1	UPI00001AEAEA	0	NA	ENST00000286657		ENSG00000156140	219		87	0.35		HGNC	p.P123S		ADAMTS3		SNV							ENST00000286657	protein_coding	getma.org/?cm=var&var=hg19,4,73414332,G,A&fts=all		hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Pfam_domain:PF01562		P/S		A	neutral	404/5822		getma.org/?cm=msa&ty=f&p=ATS3_HUMAN&rb=42&re=201&var=P123S	tolerated_low_confidence(0.3)	Q96AY5_HUMAN			YES	ADAMTS3,missense_variant,p.Pro123Ser,ENST00000286657,NM_014243.2;ADAMTS3,non_coding_transcript_exon_variant,,ENST00000505193,;							MODERATE	367/3618	P123S	ATS3_HUMAN			Transcript		benign(0.016)	.	ENSP00000286657		CCDS3553.1			1	
KCNAB1	0	LGGM	GRCh37	3	156254495	156254495	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	43	15	.	.	ENST00000490337.1:c.1219C>T	p.Leu407=	p.L407=	ENST00000490337	NM_172160.2	407	Ctg/Ttg	0	1	1	UPI000012E169	0		ENST00000490337		ENSG00000169282	6228		58			HGNC	p.L396L		KCNAB1		SNV							ENST00000471742	protein_coding			hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF127,TIGRFAM_domain:TIGR01293,Gene3D:3.20.20.100,Pfam_domain:PF00248,Superfamily_domains:SSF51430		L		T		1283/3122				B7Z435_HUMAN			YES	KCNAB1,synonymous_variant,p.=,ENST00000302490,NM_172159.3;KCNAB1,synonymous_variant,p.=,ENST00000471742,NM_003471.3;KCNAB1,synonymous_variant,p.=,ENST00000490337,NM_172160.2;KCNAB1,synonymous_variant,p.=,ENST00000389636,;KCNAB1,synonymous_variant,p.=,ENST00000389634,;SSR3,downstream_gene_variant,,ENST00000265044,NM_007107.3;KCNAB1,non_coding_transcript_exon_variant,,ENST00000497291,;							LOW	1219/1260		KCAB1_HUMAN			Transcript			.	ENSP00000419952		CCDS3174.1			1	
PSG1	0	LGGM	GRCh37	19	43382375	43382375	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H092933	H092933N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	95	15	.	.	ENST00000244296.2:c.120C>G	p.Ala40=	p.A40=	ENST00000244296	NM_006905.2	40	gcC/gcG	0	1		UPI000013279D	0		ENST00000436291		ENSG00000231924	9514		110			HGNC	p.A40A		PSG1		SNV							ENST00000436291	protein_coding			hmmpanther:PTHR19955:SF114,hmmpanther:PTHR19955,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		C		237/2047				Q9UMI0_HUMAN,M0QY44_HUMAN				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,;PSG1,5_prime_UTR_variant,,ENST00000595930,;PSG1,upstream_gene_variant,,ENST00000597058,;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,;							LOW	120/1260		PSG1_HUMAN			Transcript			.	ENSP00000413041		CCDS54275.1			1	
MAST4	0	LGGM	GRCh37	5	66437995	66437995	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	125	16	.	.	ENST00000403625.2:c.2547C>A	p.Asn849Lys	p.N849K	ENST00000403625	NM_001164664.1	849	aaC/aaA	0	1	1	UPI000173A2B0	0	NA	ENST00000403625		ENSG00000069020	19037		141	1.955		HGNC	p.N852K		MAST4		SNV							ENST00000404260	protein_coding	getma.org/?cm=var&var=hg19,5,66437995,C,A&fts=all		Gene3D:1.10.510.10,PROSITE_profiles:PS51285,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF139,Superfamily_domains:SSF56112		N/K		A	medium	2842/10711		getma.org/?cm=msa&ty=f&p=MAST4_HUMAN&rb=847&re=919&var=N852K		J3QT34_HUMAN			YES	MAST4,missense_variant,p.Asn852Lys,ENST00000404260,;MAST4,missense_variant,p.Asn849Lys,ENST00000403625,NM_001164664.1;MAST4,missense_variant,p.Asn670Lys,ENST00000405643,;MAST4,missense_variant,p.Asn655Lys,ENST00000261569,;MAST4,missense_variant,p.Asn660Lys,ENST00000403666,NM_015183.2;MAST4,upstream_gene_variant,,ENST00000443808,;MAST4,non_coding_transcript_exon_variant,,ENST00000485768,;							MODERATE	2547/7872	N852K				Transcript		possibly_damaging(0.884)	.	ENSP00000385727		CCDS54861.1			1	
NPR2	0	LGGM	GRCh37	9	35792850	35792850	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H092933	H092933N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	39	17	.	.	ENST00000342694.2:c.445C>T	p.Leu149=	p.L149=	ENST00000342694	NM_003995.3	149	Ctg/Ttg	0	1	1	UPI0000125B42	0		ENST00000342694		ENSG00000159899	7944		56			HGNC	p.L149L		NPR2		SNV			1				ENST00000342694	protein_coding			Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF231,Superfamily_domains:SSF53822		L		T		700/3686							YES	NPR2,synonymous_variant,p.=,ENST00000342694,NM_003995.3;RP11-112J3.16,downstream_gene_variant,,ENST00000431981,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;							LOW	445/3144		ANPRB_HUMAN			Transcript			.	ENSP00000341083		CCDS6590.1			1	
FGD4	0	LGGM	GRCh37	12	32734996	32734996	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	59	21	.	.	ENST00000427716.2:c.195A>C	p.Lys65Asn	p.K65N	ENST00000427716	NM_139241.2	65	aaA/aaC	0	1	1	UPI000004CCA6	0	NA	ENST00000427716		ENSG00000139132	19125		80	0.895		HGNC	p.K65N		FGD4		SNV			1				ENST00000395740	protein_coding	getma.org/?cm=var&var=hg19,12,32734996,A,C&fts=all		hmmpanther:PTHR12673:SF98,hmmpanther:PTHR12673		K/N		C	low	619/8242		getma.org/?cm=msa&ty=f&p=FGD4_HUMAN&rb=1&re=174&var=K65N	tolerated_low_confidence(0.08)	J3KSS3_HUMAN,F8W1R0_HUMAN			YES	FGD4,missense_variant,p.Lys65Asn,ENST00000427716,NM_139241.2;FGD4,missense_variant,p.Lys202Asn,ENST00000534526,;FGD4,missense_variant,p.Lys177Asn,ENST00000525053,;FGD4,missense_variant,p.Lys150Asn,ENST00000531134,;FGD4,missense_variant,p.Lys65Asn,ENST00000472289,;FGD4,5_prime_UTR_variant,,ENST00000546442,;FGD4,5_prime_UTR_variant,,ENST00000266482,;FGD4,non_coding_transcript_exon_variant,,ENST00000550091,;FGD4,downstream_gene_variant,,ENST00000473513,;FGD4,missense_variant,p.Lys65Asn,ENST00000493087,;FGD4,missense_variant,p.Lys65Asn,ENST00000395740,;FGD4,non_coding_transcript_exon_variant,,ENST00000494275,;FGD4,intron_variant,,ENST00000551984,;FGD4,upstream_gene_variant,,ENST00000494977,;							MODERATE	195/2301	K65N	FGD4_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000394487		CCDS8727.1			1	
ZNF729	0	LGGM	GRCh37	19	22486666	22486666	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H092933	H092933N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	111	24	.	.	ENST00000601693.1:c.137A>G	p.Tyr46Cys	p.Y46C	ENST00000601693		46	tAc/tGc	0	1	1	UPI000042600C	0	getma.org/pdb.php?prot=ZN729_HUMAN&from=13&to=53&var=Y46C	ENST00000601693		ENSG00000196350	32464		135	2.82		HGNC	p.Y46C	rs767013425	ZNF729		SNV							ENST00000357491	protein_coding	getma.org/?cm=var&var=hg19,19,22486666,A,G&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Y/C		G	medium	255/3877	3.01E-05	getma.org/?cm=msa&ty=f&p=ZN729_HUMAN&rb=13&re=53&var=Y46C	deleterious(0)	M0QY45_HUMAN			YES	ZNF729,missense_variant,p.Tyr46Cys,ENST00000601693,;ZNF729,missense_variant,p.Tyr46Cys,ENST00000357491,NM_001242680.1;RP11-157B13.9,upstream_gene_variant,,ENST00000604515,;							MODERATE	137/3759	Y46C				Transcript		probably_damaging(0.972)	.	ENSP00000469582	1.65E-05	CCDS59368.1			1	
CR1	0	LGGM	GRCh37	1	207751275	207751275	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H092933	H092933N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H092933N.bam, H092933T.bam	Illumina HiSeq	175	25	.	.	ENST00000367049.4:c.4663T>G	p.Phe1555Val	p.F1555V	ENST00000367049	NM_000651.4	1555	Ttt/Gtt	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1066&to=1132&var=F1105V	ENST00000367051		ENSG00000203710	2334		200	4		HGNC	p.F1105V		CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207751275,T,G&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		F/V		G	high	3424/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1066&re=1132&var=F1105V	deleterious(0)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Phe1555Val,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Phe1105Val,ENST00000367052,;CR1,missense_variant,p.Phe1105Val,ENST00000367053,;CR1,missense_variant,p.Phe1105Val,ENST00000367051,;CR1,missense_variant,p.Phe1105Val,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Phe655Val,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,intron_variant,,ENST00000596003,;							MODERATE	3313/6120	F1105V	CR1_HUMAN			Transcript		benign(0.166)	.	ENSP00000356018					1	
TNKS1BP1	0	LGGM	GRCh37	11	57070084	57070084	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	7	2	.	.	ENST00000532437.1:c.4532C>A	p.Pro1511His	p.P1511H	ENST00000532437		1511	cCt/cAt	0	1		UPI000013DB72	0	NA	ENST00000358252		ENSG00000149115	19081		9	1.995		HGNC	p.P1511H		TNKS1BP1		SNV							ENST00000532437	protein_coding	getma.org/?cm=var&var=hg19,11,57070084,G,T&fts=all		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2		P/H		T	medium	4685/5795		getma.org/?cm=msa&ty=f&p=TB182_HUMAN&rb=748&re=1727&var=P1511H	deleterious(0)	E9PKK0_HUMAN,E9PKE7_HUMAN				TNKS1BP1,missense_variant,p.Pro1511His,ENST00000532437,;TNKS1BP1,missense_variant,p.Pro1511His,ENST00000358252,NM_033396.2;TNKS1BP1,non_coding_transcript_exon_variant,,ENST00000427750,;TNKS1BP1,intron_variant,,ENST00000528882,;TNKS1BP1,upstream_gene_variant,,ENST00000532273,;							MODERATE	4532/5190	P1511H	TB182_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000350990		CCDS7951.1			1	
SYNJ1	0	LGGM	GRCh37	21	34003849	34003849	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	17	2	.	.	ENST00000433931.2:c.4295C>G	p.Pro1432Arg	p.P1432R	ENST00000433931	NM_003895.3	1432	cCa/cGa	0	1	1	UPI0001A47572	0	NA	ENST00000433931		ENSG00000159082	11503		19	1.525		HGNC	p.P1393R		SYNJ1		SNV			1				ENST00000322229	protein_coding	getma.org/?cm=var&var=hg19,21,34003849,G,C&fts=all				P/R		C	low	4303/4852		getma.org/?cm=msa&ty=f&p=SYNJ1_HUMAN&rb=1136&re=1571&var=P1393R	deleterious_low_confidence(0.01)	J3KQV8_HUMAN,C9J1Z6_HUMAN			YES	SYNJ1,missense_variant,p.Pro1346Arg,ENST00000382491,NM_001160306.1;SYNJ1,missense_variant,p.Pro1432Arg,ENST00000433931,NM_003895.3;SYNJ1,missense_variant,p.Pro1393Arg,ENST00000322229,;SYNJ1,3_prime_UTR_variant,,ENST00000382499,NM_203446.2;SYNJ1,3_prime_UTR_variant,,ENST00000357345,NM_001160302.1;SYNJ1,3_prime_UTR_variant,,ENST00000438952,;SYNJ1,downstream_gene_variant,,ENST00000418301,;							MODERATE	4295/4839	P1393R				Transcript		benign(0.444)	.	ENSP00000409667		CCDS33539.2			1	
ZFP64	0	LGGM	GRCh37	20	50782438	50782438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	39	3	.	.	ENST00000216923.4:c.413C>A	p.Pro138Gln	p.P138Q	ENST00000216923	NM_199426.1	138	cCa/cAa	0	1	1	UPI000006D699	0	NA	ENST00000216923		ENSG00000020256	15940		42	0.69		HGNC	p.P136Q		ZFP64		SNV							ENST00000371515	protein_coding	getma.org/?cm=var&var=hg19,20,50782438,G,T&fts=all		hmmpanther:PTHR24403,hmmpanther:PTHR24403:SF27		P/Q		T	neutral	763/3264		getma.org/?cm=msa&ty=f&p=ZF64A_HUMAN&rb=57&re=160&var=P138Q	tolerated(0.1)	B3KQX0_HUMAN			YES	ZFP64,missense_variant,p.Pro138Gln,ENST00000216923,NM_199426.1,NM_018197.2;ZFP64,missense_variant,p.Pro136Gln,ENST00000371515,;ZFP64,missense_variant,p.Pro138Gln,ENST00000361387,NM_199427.2;ZFP64,missense_variant,p.Pro138Gln,ENST00000371518,;ZFP64,intron_variant,,ENST00000346617,NM_022088.4;ZFP64,non_coding_transcript_exon_variant,,ENST00000477786,;ZFP64,non_coding_transcript_exon_variant,,ENST00000461898,;							MODERATE	413/2046	P138Q	ZF64A_HUMAN			Transcript		benign(0.143)	.	ENSP00000216923		CCDS13440.1			1	
INPP4B	0	LGGM	GRCh37	4	143326424	143326424	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	12	3	.	.	ENST00000262992.4:c.190C>T	p.Gln64Ter	p.Q64*	ENST00000262992	NM_001101669.1	64	Cag/Tag	0	1		UPI000013D37A	0	NA	ENST00000262992		ENSG00000109452	6075		15	0		HGNC	p.Q64X		INPP4B		SNV							ENST00000510812	protein_coding	getma.org/?cm=var&var=hg19,4,143326424,G,A&fts=all		hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187,Gene3D:2.60.40.150,Superfamily_domains:SSF49562		Q/*		A	NA	407/3741		NA		E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN				INPP4B,stop_gained,p.Gln64Ter,ENST00000513000,NM_003866.2;INPP4B,stop_gained,p.Gln64Ter,ENST00000509777,;INPP4B,stop_gained,p.Gln64Ter,ENST00000262992,NM_001101669.1;INPP4B,stop_gained,p.Gln64Ter,ENST00000508116,;INPP4B,stop_gained,p.Gln64Ter,ENST00000308502,;INPP4B,stop_gained,p.Gln64Ter,ENST00000510812,;INPP4B,stop_gained,p.Gln64Ter,ENST00000506217,;INPP4B,stop_gained,p.Gln64Ter,ENST00000506788,;INPP4B,non_coding_transcript_exon_variant,,ENST00000506517,;INPP4B,stop_gained,p.Gln64Ter,ENST00000512630,;INPP4B,upstream_gene_variant,,ENST00000506297,;INPP4B,upstream_gene_variant,,ENST00000507462,;INPP4B,downstream_gene_variant,,ENST00000506000,;							HIGH	190/2775	Q64*	INP4B_HUMAN			Transcript			.	ENSP00000262992		CCDS3757.1			1	
ZFP36L1	0	LGGM	GRCh37	14	69256848	69256848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	47	3	.	.	ENST00000439696.2:c.419G>A	p.Gly140Asp	p.G140D	ENST00000439696	NM_004926.3	140	gGc/gAc	0	1		UPI0000136FBC	0	getma.org/pdb.php?prot=TISB_HUMAN&from=115&to=141&var=G140D	ENST00000336440		ENSG00000185650	1107		50	3.28		HGNC	p.G140D		ZFP36L1		SNV							ENST00000439696	protein_coding	getma.org/?cm=var&var=hg19,14,69256848,C,T&fts=all		PROSITE_profiles:PS50103,hmmpanther:PTHR12547,hmmpanther:PTHR12547:SF53,Gene3D:1m9oA00,Pfam_domain:PF00642,SMART_domains:SM00356,Superfamily_domains:SSF90229		G/D		T	medium	2217/3026		getma.org/?cm=msa&ty=f&p=TISB_HUMAN&rb=95&re=161&var=G140D	deleterious(0)	G3V2D5_HUMAN,B4E1N3_HUMAN,B4DG15_HUMAN				ZFP36L1,missense_variant,p.Gly140Asp,ENST00000439696,NM_004926.3,NM_001244701.1;ZFP36L1,missense_variant,p.Gly140Asp,ENST00000336440,;ZFP36L1,missense_variant,p.Gly146Asp,ENST00000557086,;ZFP36L1,missense_variant,p.Gly118Asp,ENST00000557022,;ZFP36L1,3_prime_UTR_variant,,ENST00000555997,;ZFP36L1,downstream_gene_variant,,ENST00000408913,;ZFP36L1,downstream_gene_variant,,ENST00000553375,;							MODERATE	419/1017	G140D	TISB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337386		CCDS9791.1			1	
MOK	0	LGGM	GRCh37	14	102717168	102717168	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	17	3	.	.	ENST00000361847.2:c.571G>T	p.Val191Leu	p.V191L	ENST00000361847	NM_014226.2	191	Gtg/Ttg	0	1	1	UPI0000035B77	0	getma.org/pdb.php?prot=MOK_HUMAN&from=4&to=285&var=V191L	ENST00000361847		ENSG00000080823	9833		20	0.655		HGNC	p.V191L		MOK		SNV							ENST00000361847	protein_coding	getma.org/?cm=var&var=hg19,14,102717168,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24055:SF72,hmmpanther:PTHR24055,PROSITE_profiles:PS50011		V/L		A	neutral	803/1940		getma.org/?cm=msa&ty=f&p=MOK_HUMAN&rb=4&re=285&var=V191L	deleterious(0)	Q49A77_HUMAN			YES	MOK,missense_variant,p.Val191Leu,ENST00000361847,NM_014226.2;MOK,missense_variant,p.Val190Leu,ENST00000522874,;MOK,missense_variant,p.Val161Leu,ENST00000524214,NM_001272011.1;MOK,missense_variant,p.Val71Leu,ENST00000559838,;MOK,5_prime_UTR_variant,,ENST00000193029,;MOK,upstream_gene_variant,,ENST00000519058,;MOK,non_coding_transcript_exon_variant,,ENST00000521493,;MOK,upstream_gene_variant,,ENST00000520266,;MOK,downstream_gene_variant,,ENST00000524019,;MOK,upstream_gene_variant,,ENST00000557823,;MOK,3_prime_UTR_variant,,ENST00000521766,;MOK,3_prime_UTR_variant,,ENST00000521388,;MOK,3_prime_UTR_variant,,ENST00000562292,;MOK,non_coding_transcript_exon_variant,,ENST00000518686,;MOK,non_coding_transcript_exon_variant,,ENST00000523485,;MOK,non_coding_transcript_exon_variant,,ENST00000519569,;MOK,downstream_gene_variant,,ENST00000517537,;MOK,downstream_gene_variant,,ENST00000518399,;MOK,downstream_gene_variant,,ENST00000518482,;MOK,downstream_gene_variant,,ENST00000524207,;MOK,downstream_gene_variant,,ENST00000519877,;MOK,downstream_gene_variant,,ENST00000522093,;							MODERATE	571/1260	V191L	MOK_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000355304		CCDS9971.1			1	
AQPEP	0	LGGM	GRCh37	5	115335467	115335467	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	40	3	.	.	ENST00000357872.4:c.1383C>G	p.Ile461Met	p.I461M	ENST00000357872	NM_173800.4	461	atC/atG	0	1	1	UPI0000457329	0	getma.org/pdb.php?prot=AMPQ_HUMAN&from=97&to=506&var=I461M	ENST00000357872		ENSG00000172901			43	1.13		Uniprot_gn	p.I461M		AQPEP		SNV							ENST00000357872	protein_coding	getma.org/?cm=var&var=hg19,5,115335467,C,G&fts=all		Superfamily_domains:SSF55486,Gene3D:1.10.390.10,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF31,hmmpanther:PTHR11533		I/M		G	low	1507/4581		getma.org/?cm=msa&ty=f&p=AMPQ_HUMAN&rb=97&re=506&var=I461M	tolerated(0.07)				YES	AQPEP,missense_variant,p.Ile461Met,ENST00000357872,NM_173800.4;AQPEP,5_prime_UTR_variant,,ENST00000395528,;AQPEP,missense_variant,p.Ile461Met,ENST00000504467,;AQPEP,5_prime_UTR_variant,,ENST00000503329,;AQPEP,5_prime_UTR_variant,,ENST00000514509,;AQPEP,5_prime_UTR_variant,,ENST00000512314,;							MODERATE	1383/2973	I461M	AMPQ_HUMAN			Transcript		benign(0.217)	.	ENSP00000350541		CCDS4124.1			1	
USP32	0	LGGM	GRCh37	17	58297038	58297038	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	65	4	.	.	ENST00000300896.4:c.1860G>T	p.Val620=	p.V620=	ENST00000300896	NM_032582.3	620	gtG/gtT	0	1	1	UPI0000047AF8	0		ENST00000300896		ENSG00000170832	19143		69			HGNC	p.V617V		USP32		SNV							ENST00000590133	protein_coding			hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006		V		A		2055/5171				Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN			YES	USP32,synonymous_variant,p.=,ENST00000300896,NM_032582.3;USP32,synonymous_variant,p.=,ENST00000592339,;USP32,synonymous_variant,p.=,ENST00000590133,;USP32,synonymous_variant,p.=,ENST00000591768,;USP32,3_prime_UTR_variant,,ENST00000589552,;USP32,non_coding_transcript_exon_variant,,ENST00000587651,;							LOW	1860/4815		UBP32_HUMAN			Transcript			.	ENSP00000300896		CCDS32697.1			1	
FERMT3	0	LGGM	GRCh37	11	63978760	63978760	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	9	5	.	.	ENST00000279227.5:c.528A>G	p.Ala176=	p.A176=	ENST00000279227	NM_178443.2	176	gcA/gcG	0	1	1	UPI000019270B	0		ENST00000279227		ENSG00000149781	23151		14			HGNC	p.A176A	COSM689755,COSM689756	FERMT3		SNV			1			1,1	ENST00000279227	protein_coding			hmmpanther:PTHR16160:SF1,hmmpanther:PTHR16160,SMART_domains:SM00295		A		G		623/2489				F5H3I6_HUMAN,F5H1C6_HUMAN			YES	FERMT3,synonymous_variant,p.=,ENST00000279227,NM_178443.2;FERMT3,synonymous_variant,p.=,ENST00000345728,NM_031471.5;FERMT3,synonymous_variant,p.=,ENST00000544997,;FERMT3,5_prime_UTR_variant,,ENST00000541252,;FERMT3,upstream_gene_variant,,ENST00000541326,;FERMT3,upstream_gene_variant,,ENST00000546255,;					1,1		LOW	528/2004		URP2_HUMAN			Transcript			.	ENSP00000279227		CCDS8060.1			1	
PCDHB10	0	LGGM	GRCh37	5	140572951	140572951	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	60	6	.	.	ENST00000239446.4:c.826G>A	p.Glu276Lys	p.E276K	ENST00000239446	NM_018930.3	276	Gaa/Aaa	0	1	1	UPI0000048F2E	0	getma.org/pdb.php?prot=PCDBA_HUMAN&from=247&to=338&var=E276K	ENST00000239446		ENSG00000120324	8681		66	1.065		HGNC	p.E276K		PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140572951,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/K		A	low	1010/3274		getma.org/?cm=msa&ty=f&p=PCDBA_HUMAN&rb=247&re=338&var=E276K	tolerated_low_confidence(0.26)	O95883_HUMAN			YES	PCDHB10,missense_variant,p.Glu276Lys,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							MODERATE	826/2403	E276K	PCDBA_HUMAN			Transcript		benign(0.011)	.	ENSP00000239446		CCDS4252.1			1	
TSPYL4	0	LGGM	GRCh37	6	116575032	116575032	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	6	10	.	.	ENST00000420283.1:c.140C>A	p.Ala47Glu	p.A47E	ENST00000420283	NM_021648.4	47	gCg/gAg	0	1	1	UPI00001BBB76	0	NA	ENST00000420283		ENSG00000187189	21559		16	1.56		HGNC	p.A47E		TSPYL4		SNV							ENST00000420283	protein_coding	getma.org/?cm=var&var=hg19,6,116575032,G,T&fts=all				A/E		T	low	230/4111		getma.org/?cm=msa&ty=f&p=TSYL4_HUMAN&rb=1&re=189&var=A47E	deleterious(0.02)	Q69YV8_HUMAN			YES	TSPYL4,missense_variant,p.Ala47Glu,ENST00000420283,NM_021648.4;NT5DC1,downstream_gene_variant,,ENST00000319550,NM_152729.2;DSE,upstream_gene_variant,,ENST00000430252,;DSE,upstream_gene_variant,,ENST00000540275,;RP3-486I3.7,upstream_gene_variant,,ENST00000448740,;RP3-486I3.4,downstream_gene_variant,,ENST00000435100,;							MODERATE	140/1245	A47E	TSYL4_HUMAN			Transcript		benign(0.012)	.	ENSP00000410943		CCDS5106.1			1	
TRMT1	0	LGGM	GRCh37	19	13227171	13227171	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	17	11	.	.	ENST00000592062.1:c.43G>T	p.Ala15Ser	p.A15S	ENST00000592062		15	Gcc/Tcc	0	1		UPI0000000A02	0	NA	ENST00000357720		ENSG00000104907	25980		28	0.695		HGNC	p.A15S		TRMT1		SNV							ENST00000591717	protein_coding	getma.org/?cm=var&var=hg19,19,13227171,C,A&fts=all		hmmpanther:PTHR10631,hmmpanther:PTHR10631:SF3		A/S		A	neutral	172/2142		getma.org/?cm=msa&ty=f&p=TRM1_HUMAN&rb=1&re=44&var=A15S	tolerated_low_confidence(0.26)	K7EQY6_HUMAN,K7EJX9_HUMAN,B4E3A3_HUMAN,B4DHS5_HUMAN				TRMT1,missense_variant,p.Ala15Ser,ENST00000592062,;TRMT1,missense_variant,p.Ala15Ser,ENST00000437766,NM_017722.3;TRMT1,missense_variant,p.Ala15Ser,ENST00000221504,NM_001142554.1;TRMT1,missense_variant,p.Ala15Ser,ENST00000357720,NM_001136035.2;TRMT1,missense_variant,p.Ala15Ser,ENST00000592814,;TRMT1,missense_variant,p.Ala15Ser,ENST00000588229,;TRMT1,intron_variant,,ENST00000587487,;NACC1,upstream_gene_variant,,ENST00000292431,NM_052876.3;NACC1,upstream_gene_variant,,ENST00000586171,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592892,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592729,;TRMT1,non_coding_transcript_exon_variant,,ENST00000591425,;TRMT1,intron_variant,,ENST00000588813,;TRMT1,upstream_gene_variant,,ENST00000593257,;TRMT1,missense_variant,p.Ala15Ser,ENST00000591717,;TRMT1,missense_variant,p.Ala15Ser,ENST00000588746,;TRMT1,missense_variant,p.Ala15Ser,ENST00000586224,;TRMT1,non_coding_transcript_exon_variant,,ENST00000588511,;TRMT1,non_coding_transcript_exon_variant,,ENST00000585622,;TRMT1,non_coding_transcript_exon_variant,,ENST00000592606,;TRMT1,intron_variant,,ENST00000593157,;TRMT1,intron_variant,,ENST00000590812,;TRMT1,upstream_gene_variant,,ENST00000587633,;							MODERATE	43/1980	A15S	TRM1_HUMAN			Transcript		benign(0.005)	.	ENSP00000350352		CCDS12293.1			1	
SGSH	0	LGGM	GRCh37	17	78188877	78188877	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	6	13	.	.	ENST00000326317.6:c.310G>A	p.Val104Met	p.V104M	ENST00000326317	NM_000199.3	104	Gtg/Atg	0	1	1	UPI000000DBD0	0	getma.org/pdb.php?prot=SPHM_HUMAN&from=23&to=450&var=V104M	ENST00000326317		ENSG00000181523	10818		19	2.635		HGNC	p.V17M	rs766542212	SGSH	0.000182	SNV			1				ENST00000576707	protein_coding	getma.org/?cm=var&var=hg19,17,78188877,C,T&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF00884,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF76,Superfamily_domains:SSF53649		V/M		T	medium	397/2784		getma.org/?cm=msa&ty=f&p=SPHM_HUMAN&rb=23&re=450&var=V104M	deleterious(0)	I3L4B7_HUMAN,F5H6A3_HUMAN			YES	SGSH,missense_variant,p.Val104Met,ENST00000326317,NM_000199.3;SGSH,missense_variant,p.Val104Met,ENST00000570427,;SGSH,missense_variant,p.Val17Met,ENST00000576707,;SGSH,synonymous_variant,p.=,ENST00000570923,;SGSH,intron_variant,,ENST00000534910,;SGSH,upstream_gene_variant,,ENST00000576856,;SLC26A11,upstream_gene_variant,,ENST00000577155,;SGSH,upstream_gene_variant,,ENST00000572257,;SGSH,non_coding_transcript_exon_variant,,ENST00000572208,;SGSH,missense_variant,p.Val86Met,ENST00000574505,;SGSH,non_coding_transcript_exon_variant,,ENST00000575282,;SGSH,non_coding_transcript_exon_variant,,ENST00000571675,;SGSH,non_coding_transcript_exon_variant,,ENST00000575188,;SGSH,non_coding_transcript_exon_variant,,ENST00000571051,;SGSH,intron_variant,,ENST00000573150,;SGSH,intron_variant,,ENST00000576941,;SGSH,downstream_gene_variant,,ENST00000571075,;							MODERATE	310/1509	V104M	SPHM_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000314606	2.47E-05	CCDS11770.1			1	
DIAPH1	0	LGGM	GRCh37	5	140908489	140908489	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	14	14	.	.	ENST00000398557.4:c.2798T>G	p.Leu933Arg	p.L933R	ENST00000398557	NM_005219.4	933	cTg/cGg	0	1		UPI0001E8F44E	0	getma.org/pdb.php?prot=DIAP1_HUMAN&from=769&to=1146&var=L933R	ENST00000389054		ENSG00000131504	2876		28	3.345		HGNC	p.L924R		DIAPH1		SNV			1				ENST00000389057	protein_coding	getma.org/?cm=var&var=hg19,5,140908489,A,C&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		L/R		C	medium	2930/5786		getma.org/?cm=msa&ty=f&p=DIAP1_HUMAN&rb=769&re=1146&var=L933R	deleterious(0)	Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E9PEZ3_HUMAN,E7ERW8_HUMAN,E5RJ79_HUMAN				DIAPH1,missense_variant,p.Leu934Arg,ENST00000253811,;DIAPH1,missense_variant,p.Leu933Arg,ENST00000398557,NM_005219.4;DIAPH1,missense_variant,p.Leu930Arg,ENST00000389054,;DIAPH1,missense_variant,p.Leu925Arg,ENST00000398566,;DIAPH1,missense_variant,p.Leu924Arg,ENST00000389057,NM_001079812.2;DIAPH1,missense_variant,p.Leu909Arg,ENST00000398562,;DIAPH1,missense_variant,p.Leu876Arg,ENST00000520569,;DIAPH1,missense_variant,p.Leu921Arg,ENST00000518047,;DIAPH1,upstream_gene_variant,,ENST00000448451,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000494967,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000491754,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000518484,;DIAPH1,upstream_gene_variant,,ENST00000468119,;DIAPH1,3_prime_UTR_variant,,ENST00000521457,;DIAPH1,upstream_gene_variant,,ENST00000476339,;							MODERATE	2789/3810	L933R				Transcript		unknown(0)	.	ENSP00000373706					1	
MPPED1	0	LGGM	GRCh37	22	43898566	43898566	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	14	14	.	.	ENST00000417669.2:c.791G>A	p.Cys264Tyr	p.C264Y	ENST00000417669		264	tGt/tAt	0	1	1	UPI000006DF41	0	getma.org/pdb.php?prot=MPPD1_HUMAN&from=90&to=288&var=C264Y	ENST00000417669		ENSG00000186732	1306		28	3.325		HGNC	p.C264Y	rs374318643	MPPED1		SNV	A:0						ENST00000542779	protein_coding	getma.org/?cm=var&var=hg19,22,43898566,G,A&fts=all		Gene3D:3.60.21.10,Pfam_domain:PF00149,PIRSF_domain:PIRSF035808,hmmpanther:PTHR12905,hmmpanther:PTHR12905:SF9,Superfamily_domains:SSF56300		C/Y	A:0.0001	A	medium	1235/3657		getma.org/?cm=msa&ty=f&p=MPPD1_HUMAN&rb=90&re=288&var=C264Y	deleterious(0)	Q20WK9_HUMAN,F5H6C9_HUMAN,B4DS06_HUMAN,B1AH63_HUMAN,B1AH62_HUMAN			YES	MPPED1,missense_variant,p.Cys264Tyr,ENST00000417669,;MPPED1,missense_variant,p.Cys264Tyr,ENST00000443721,NM_001044370.1;MPPED1,missense_variant,p.Cys297Tyr,ENST00000538182,;MPPED1,missense_variant,p.Cys264Tyr,ENST00000542779,;MPPED1,missense_variant,p.Cys106Tyr,ENST00000439548,;MPPED1,missense_variant,p.Cys158Tyr,ENST00000414469,;							MODERATE	791/981	C264Y	MPPD1_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000388137		CCDS46723.1			1	
KCNA7	0	LGGM	GRCh37	19	49573780	49573780	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	22	14	.	.	ENST00000221444.1:c.911C>A	p.Thr304Lys	p.T304K	ENST00000221444	NM_031886.2	304	aCg/aAg	0	1	1	UPI000004F638	0	getma.org/pdb.php?prot=KCNA7_HUMAN&from=211&to=393&var=T304K	ENST00000221444		ENSG00000104848	6226		36	3.36		HGNC	p.T304K		KCNA7		SNV							ENST00000221444	protein_coding	getma.org/?cm=var&var=hg19,19,49573780,G,T&fts=all		hmmpanther:PTHR11537:SF19,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169		T/K		T	medium	1267/4372		getma.org/?cm=msa&ty=f&p=KCNA7_HUMAN&rb=211&re=393&var=T304K	deleterious(0)				YES	KCNA7,missense_variant,p.Thr304Lys,ENST00000221444,NM_031886.2;							MODERATE	911/1371	T304K	KCNA7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000221444		CCDS12755.1			1	
NENF	0	LGGM	GRCh37	1	212617760	212617760	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093001	H093001N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	14	15	.	.	ENST00000366988.3:c.318T>A	p.Asp106Glu	p.D106E	ENST00000366988	NM_013349.4	106	gaT/gaA	0	1	1	UPI000006E19B	0	getma.org/pdb.php?prot=NENF_HUMAN&from=46&to=144&var=D106E	ENST00000366988		ENSG00000117691	30384		29	0.78		HGNC	p.D106E		NENF		SNV							ENST00000366988	protein_coding	getma.org/?cm=var&var=hg19,1,212617760,T,A&fts=all		hmmpanther:PTHR10281,Gene3D:3.10.120.10,Pfam_domain:PF00173,Superfamily_domains:SSF55856		D/E		A	neutral	375/942		getma.org/?cm=msa&ty=f&p=NENF_HUMAN&rb=46&re=144&var=D106E	tolerated(0.74)				YES	NENF,missense_variant,p.Asp106Glu,ENST00000366988,NM_013349.4;NENF,non_coding_transcript_exon_variant,,ENST00000473900,;NENF,non_coding_transcript_exon_variant,,ENST00000479589,;							MODERATE	318/519	D106E	NENF_HUMAN			Transcript		benign(0.007)	.	ENSP00000355955		CCDS1505.1			1	
TFIP11	0	LGGM	GRCh37	22	26897874	26897874	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	22	15	.	.	ENST00000407690.1:c.793C>T	p.Gln265Ter	p.Q265*	ENST00000407690	NM_012143.2	265	Caa/Taa	0	1		UPI0000137191	0	NA	ENST00000405938		ENSG00000100109	17165		37	0		HGNC	p.Q265X		TFIP11		SNV							ENST00000407690	protein_coding	getma.org/?cm=var&var=hg19,22,26897874,G,A&fts=all		hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,PIRSF_domain:PIRSF017706		Q/*		A	NA	1148/2896		NA		F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN				TFIP11,stop_gained,p.Gln265Ter,ENST00000407690,NM_012143.2;TFIP11,stop_gained,p.Gln265Ter,ENST00000407431,;TFIP11,stop_gained,p.Gln265Ter,ENST00000405938,NM_001008697.1;TFIP11,stop_gained,p.Gln265Ter,ENST00000407148,;TFIP11,stop_gained,p.Gln116Ter,ENST00000450493,;TFIP11,downstream_gene_variant,,ENST00000455080,;TFIP11,downstream_gene_variant,,ENST00000418876,;TFIP11,downstream_gene_variant,,ENST00000420242,;TFIP11,non_coding_transcript_exon_variant,,ENST00000496523,;TFIP11,downstream_gene_variant,,ENST00000479489,;TFIP11,downstream_gene_variant,,ENST00000472918,;TFIP11,upstream_gene_variant,,ENST00000481357,;TFIP11,downstream_gene_variant,,ENST00000493698,;							HIGH	793/2514	Q265*	TFP11_HUMAN			Transcript			.	ENSP00000384297		CCDS13838.1			1	
SPATA6L	0	LGGM	GRCh37	9	4622416	4622416	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	20	17	.	.	ENST00000475086.1:c.590C>T	p.Thr197Met	p.T197M	ENST00000475086	NM_001039395.3	197	aCg/aTg	0	1		UPI000014094A	0	NA	ENST00000461761		ENSG00000106686	25472	8.65E-05	37	-1.245		HGNC	p.T255M	rs376189255	SPATA6L	0.000183	SNV	A:0.0003			0.000307			ENST00000454239	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,9,4622416,G,A&fts=all	A:0.0008	hmmpanther:PTHR16435:SF2,hmmpanther:PTHR16435		T/M	A:0	A	neutral	937/1747	4.51E-05	getma.org/?cm=msa&ty=f&p=E7ENB5_HUMAN&rb=1&re=267&var=T132M	tolerated(0.73)		A:0	A:0		SPATA6L,missense_variant,p.Thr255Met,ENST00000454239,;SPATA6L,missense_variant,p.Thr132Met,ENST00000381895,;SPATA6L,missense_variant,p.Thr197Met,ENST00000475086,NM_001039395.3;SPATA6L,missense_variant,p.Thr269Met,ENST00000381890,;SPATA6L,downstream_gene_variant,,ENST00000223517,;SPATA6L,downstream_gene_variant,,ENST00000496798,;SPATA6L,downstream_gene_variant,,ENST00000498087,;SPATA6L,missense_variant,p.Thr255Met,ENST00000461761,;SPATA6L,3_prime_UTR_variant,,ENST00000485616,;SPATA6L,3_prime_UTR_variant,,ENST00000406861,;SPATA6L,3_prime_UTR_variant,,ENST00000486047,;SPATA6L,downstream_gene_variant,,ENST00000451763,;		A:0.0002					MODERATE	764/1179	T132M	SPA6L_HUMAN		A:0	Transcript		benign(0.004)	.	ENSP00000418458	8.28E-05			A:0	1	
PRDM14	0	LGGM	GRCh37	8	70981418	70981418	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	45	17	.	.	ENST00000276594.2:c.678C>T	p.Leu226=	p.L226=	ENST00000276594	NM_024504.3	226	ctC/ctT	0	1	1	UPI0000132186	0		ENST00000276594		ENSG00000147596	14001		62			HGNC	p.L226L		PRDM14		SNV							ENST00000276594	protein_coding			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354		L		A		880/2344				C9JMM8_HUMAN			YES	PRDM14,synonymous_variant,p.=,ENST00000276594,NM_024504.3;PRDM14,downstream_gene_variant,,ENST00000426346,;							LOW	678/1716		PRD14_HUMAN			Transcript			.	ENSP00000276594		CCDS6206.1			1	
RC3H1	0	LGGM	GRCh37	1	173950138	173950138	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	20	17	.	.	ENST00000367696.2:c.778C>T	p.Arg260Cys	p.R260C	ENST00000367696		260	Cgt/Tgt	0	1		UPI00001D7DA8	0	NA	ENST00000258349		ENSG00000135870	29434	8.65E-05	37	2.35		HGNC	p.R260C	rs751787129,COSM1240026	RC3H1		SNV				9.63E-05		0,1	ENST00000258349	protein_coding	getma.org/?cm=var&var=hg19,1,173950138,G,A&fts=all		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF6		R/C		A	medium	857/10988		getma.org/?cm=msa&ty=f&p=RC3H1_HUMAN&rb=255&re=413&var=R260C	deleterious(0)	B9EGU6_HUMAN				RC3H1,missense_variant,p.Arg260Cys,ENST00000367696,;RC3H1,missense_variant,p.Arg260Cys,ENST00000258349,NM_172071.2;RC3H1,missense_variant,p.Arg260Cys,ENST00000367694,;RC3H1,non_coding_transcript_exon_variant,,ENST00000484867,;					0,1		MODERATE	778/3402	R260C	RC3H1_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000258349	1.65E-05	CCDS30940.1			1	
PLOD1	0	LGGM	GRCh37	1	12033026	12033026	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	22	18	.	.	ENST00000196061.4:c.2000C>T	p.Ala667Val	p.A667V	ENST00000196061	NM_000302.3	667	gCc/gTc	0	1	1	UPI000013C611	0	NA	ENST00000196061		ENSG00000083444	9081		40	3.53		HGNC	p.A667V		PLOD1		SNV			1				ENST00000196061	protein_coding	getma.org/?cm=var&var=hg19,1,12033026,C,T&fts=all		PROSITE_profiles:PS51471,hmmpanther:PTHR10730,hmmpanther:PTHR10730:SF5,Pfam_domain:PF03171,SMART_domains:SM00702		A/V		T	high	2027/2940		getma.org/?cm=msa&ty=f&p=PLOD1_HUMAN&rb=636&re=727&var=A667V	deleterious(0)	Q9UL44_HUMAN			YES	PLOD1,missense_variant,p.Ala667Val,ENST00000196061,NM_000302.3;PLOD1,missense_variant,p.Ala714Val,ENST00000376369,;PLOD1,intron_variant,,ENST00000491536,;PLOD1,non_coding_transcript_exon_variant,,ENST00000481933,;							MODERATE	2000/2184	A667V	PLOD1_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000196061		CCDS142.1			1	
OR5F1	0	LGGM	GRCh37	11	55761713	55761713	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	28	18	.	.	ENST00000278409.1:c.389T>A	p.Leu130Gln	p.L130Q	ENST00000278409	NM_003697.1	130	cTg/cAg	0	1	1	UPI0000041D19	0	NA	ENST00000278409		ENSG00000149133	8343		46	4.295		HGNC	p.L130Q		OR5F1		SNV							ENST00000278409	protein_coding	getma.org/?cm=var&var=hg19,11,55761713,A,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF10,Superfamily_domains:SSF81321		L/Q		T	high	389/945		getma.org/?cm=msa&ty=f&p=OR5F1_HUMAN&rb=1&re=138&var=L130Q	deleterious(0)				YES	OR5F1,missense_variant,p.Leu130Gln,ENST00000278409,NM_003697.1;							MODERATE	389/945	L130Q	OR5F1_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000278409		CCDS31515.1			1	
CLSTN3	0	LGGM	GRCh37	12	7295532	7295532	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	19	18	.	.	ENST00000266546.6:c.1608C>T	p.Arg536=	p.R536=	ENST00000266546	NM_014718.3	536	cgC/cgT	0	1	1	UPI0000049E7C	0		ENST00000266546		ENSG00000139182	18371		37			HGNC	p.R536R		CLSTN3		SNV							ENST00000266546	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR14139,hmmpanther:PTHR14139:SF5,Superfamily_domains:SSF49899		R		T		2058/4185				F5H7C7_HUMAN,F5H5D7_HUMAN,F5H5C6_HUMAN,F5H172_HUMAN			YES	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,upstream_gene_variant,,ENST00000541770,;							LOW	1608/2871		CSTN3_HUMAN			Transcript			.	ENSP00000266546		CCDS8575.1			1	
LRRTM1	0	LGGM	GRCh37	2	80530543	80530543	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	23	23	.	.	ENST00000295057.3:c.402G>T	p.Arg134=	p.R134=	ENST00000295057	NM_178839.4	134	cgG/cgT	0	1	1	UPI000013E1FE	0		ENST00000295057		ENSG00000162951	19408		46			HGNC	p.R134R		LRRTM1		SNV							ENST00000295057	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		R		A		1059/2599				C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN			YES	LRRTM1,synonymous_variant,p.=,ENST00000295057,NM_178839.4;LRRTM1,synonymous_variant,p.=,ENST00000409148,;LRRTM1,synonymous_variant,p.=,ENST00000416268,;LRRTM1,synonymous_variant,p.=,ENST00000452811,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.1;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000540488,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;							LOW	402/1569		LRRT1_HUMAN			Transcript			.	ENSP00000295057		CCDS1966.1			1	
FST	0	LGGM	GRCh37	5	52780005	52780005	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	23	25	.	.	ENST00000256759.3:c.603C>A	p.Ser201=	p.S201=	ENST00000256759	NM_013409.2	201	tcC/tcA	0	1	1	UPI000012AC56	0		ENST00000256759		ENSG00000134363	3971		48			HGNC	p.S201S		FST		SNV							ENST00000256759	protein_coding			Gene3D:3.30.60.30,Pfam_domain:PF07648,PROSITE_profiles:PS51465,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF6,SMART_domains:SM00280,Superfamily_domains:SSF100895		S		A		986/2519							YES	FST,synonymous_variant,p.=,ENST00000396947,NM_006350.3;FST,synonymous_variant,p.=,ENST00000256759,NM_013409.2;FST,synonymous_variant,p.=,ENST00000504226,;FST,upstream_gene_variant,,ENST00000497789,;FST,downstream_gene_variant,,ENST00000491717,;							LOW	603/1035		FST_HUMAN			Transcript			.	ENSP00000256759		CCDS3959.1			1	
AHI1	0	LGGM	GRCh37	6	135788733	135788733	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093001	H093001N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	37	25	.	.	ENST00000367800.4:c.175A>G	p.Thr59Ala	p.T59A	ENST00000367800	NM_001134830.1	59	Act/Gct	0	1		UPI00000701FB	0	NA	ENST00000265602		ENSG00000135541	21575		62	0.895		HGNC	p.T59A		AHI1		SNV			1				ENST00000367800	protein_coding	getma.org/?cm=var&var=hg19,6,135788733,T,C&fts=all				T/A		C	low	570/4335		getma.org/?cm=msa&ty=f&p=AHI1_HUMAN&rb=5&re=334&var=T59A	tolerated(0.34)					AHI1,missense_variant,p.Thr59Ala,ENST00000367800,NM_001134830.1;AHI1,missense_variant,p.Thr59Ala,ENST00000457866,NM_017651.4;AHI1,missense_variant,p.Thr59Ala,ENST00000265602,NM_001134831.1;AHI1,missense_variant,p.Thr59Ala,ENST00000327035,NM_001134832.1;AHI1,intron_variant,,ENST00000524469,;AHI1,missense_variant,p.Thr59Ala,ENST00000531788,;							MODERATE	175/3591	T59A	AHI1_HUMAN			Transcript		benign(0.002)	.	ENSP00000265602		CCDS47483.1			1	
OR4C3	0	LGGM	GRCh37	11	48346701	48346701	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093001	H093001N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	40	26	.	.	ENST00000319856.4:c.209T>C	p.Ile70Thr	p.I70T	ENST00000319856	NM_001004702.1	70	aTt/aCt	0	1	1	UPI0000061EA2	0	getma.org/pdb.php?prot=OR4C3_HUMAN&from=1&to=136&var=I43T	ENST00000319856		ENSG00000176547	14697		66	2.825		HGNC	p.I70T	rs753306994	OR4C3		SNV							ENST00000319856	protein_coding	getma.org/?cm=var&var=hg19,11,48346701,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF162,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/T		C	medium	230/1036	1.50E-05	getma.org/?cm=msa&ty=f&p=OR4C3_HUMAN&rb=1&re=136&var=I43T	deleterious(0.05)				YES	OR4C3,missense_variant,p.Ile70Thr,ENST00000319856,NM_001004702.1;							MODERATE	209/990	I43T	OR4C3_HUMAN			Transcript		benign(0.094)	.	ENSP00000321419	8.24E-06	CCDS31489.1			1	
PRLR	0	LGGM	GRCh37	5	35065577	35065577	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	32	28	.	.	ENST00000382002.5:c.1483C>A	p.Pro495Thr	p.P495T	ENST00000382002	NM_000949.5	495	Ccc/Acc	0	1	1	UPI0000132234	0	NA	ENST00000382002		ENSG00000113494	9446		60	3.07		HGNC	p.P495T	rs772553198	PRLR		SNV			1				ENST00000382002	protein_coding	getma.org/?cm=var&var=hg19,5,35065577,G,T&fts=all		hmmpanther:PTHR23036:SF86,hmmpanther:PTHR23036		P/T		T	medium	1910/11680	1.50E-05	getma.org/?cm=msa&ty=f&p=PRLR_HUMAN&rb=321&re=520&var=P495T	tolerated(0.08)	D6RD41_HUMAN,D6RC67_HUMAN,D6RAN9_HUMAN,D6R9V7_HUMAN,D6R9P5_HUMAN			YES	PRLR,missense_variant,p.Pro495Thr,ENST00000382002,NM_000949.5;PRLR,missense_variant,p.Pro394Thr,ENST00000342362,NM_001204314.1;PRLR,missense_variant,p.Pro394Thr,ENST00000511486,;PRLR,intron_variant,,ENST00000231423,NM_001204316.1;PRLR,intron_variant,,ENST00000513753,NM_001204317.1;PRLR,intron_variant,,ENST00000348262,NM_001204318.1;PRLR,intron_variant,,ENST00000310101,NM_001204315.1;PRLR,intron_variant,,ENST00000397391,;PRLR,intron_variant,,ENST00000542609,;PRLR,downstream_gene_variant,,ENST00000509934,;PRLR,3_prime_UTR_variant,,ENST00000508107,;PRLR,intron_variant,,ENST00000509140,;PRLR,intron_variant,,ENST00000514088,;							MODERATE	1483/1869	P495T	PRLR_HUMAN			Transcript		benign(0.141)	.	ENSP00000371432	8.24E-06	CCDS3909.1			1	
FRMPD1	0	LGGM	GRCh37	9	37746722	37746722	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	57	30	.	.	ENST00000539465.1:c.4693del	p.Val1565CysfsTer4	p.V1565Cfs*4	ENST00000539465		1565	Gtg/tg	0	1		UPI000013D2CC	0		ENST00000377765		ENSG00000070601	29159		87			HGNC	p.V1565fs		FRMPD1		deletion							ENST00000539465	protein_coding			hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		V/X		-		4792/4971				F5H0G3_HUMAN				FRMPD1,frameshift_variant,p.Val1565CysfsTer4,ENST00000539465,;FRMPD1,frameshift_variant,p.Val1565CysfsTer4,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;							HIGH	4693/4737		FRPD1_HUMAN			Transcript			.	ENSP00000366995		CCDS6612.1			1	
PEX11A	0	LGGM	GRCh37	15	90229660	90229660	+	splice_donor_variant	Splice_Site	DEL	A	A	-	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	57	32	.	.	ENST00000300056.3:c.172+2del		p.X58_splice	ENST00000300056	NM_001271572.1			0	1	1	UPI0000074027	0		ENST00000300056		ENSG00000166821	8852		89			HGNC	-		PEX11A		deletion							ENST00000561224	protein_coding							-		-/2740				B4DMF6_HUMAN,B2R8C6_HUMAN			YES	PEX11A,splice_donor_variant,,ENST00000300056,NM_001271572.1,NM_003847.2,NM_001271573.1;PEX11A,splice_donor_variant,,ENST00000561257,;PEX11A,splice_donor_variant,,ENST00000561224,;PEX11A,intron_variant,,ENST00000559170,;WDR93,upstream_gene_variant,,ENST00000268130,NM_020212.1;WDR93,upstream_gene_variant,,ENST00000560294,NM_001284395.1;WDR93,upstream_gene_variant,,ENST00000558000,NM_001284396.1;PEX11A,intron_variant,,ENST00000557982,;RPL36AP43,downstream_gene_variant,,ENST00000460165,;							HIGH	172/744		PX11A_HUMAN			Transcript			.	ENSP00000300056		CCDS10354.1			1	
TP53	0	LGGM	GRCh37	17	7579355	7579355	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	9	32	.	.	ENST00000269305.4:c.332T>C	p.Leu111Pro	p.L111P	ENST00000269305	NM_001126112.2	111	cTg/cCg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=L111P	ENST00000269305		ENSG00000141510	11998		41	2.565		HGNC	p.L111P	TP53_g.11563T>C,COSM44045,COSM437626,COSM437627,COSM3820727,COSM3820726	TP53		SNV			1			0,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7579355,A,G&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		L/P		G	medium	522/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=L111P	deleterious(0)	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			YES	TP53,missense_variant,p.Leu111Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Leu111Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Leu111Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Leu111Pro,ENST00000445888,;TP53,missense_variant,p.Leu111Pro,ENST00000359597,;TP53,missense_variant,p.Leu111Pro,ENST00000413465,;TP53,missense_variant,p.Leu111Pro,ENST00000508793,;TP53,missense_variant,p.Leu111Pro,ENST00000604348,;TP53,missense_variant,p.Leu111Pro,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;					0,1,1,1,1,1		MODERATE	332/1182	L111P	P53_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000269305		CCDS11118.1			1	
SCN4A	0	LGGM	GRCh37	17	62020223	62020223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	44	32	.	.	ENST00000435607.1:c.4251C>A	p.Asn1417Lys	p.N1417K	ENST00000435607	NM_000334.4	1417	aaC/aaA	0	1	1	UPI0000201254	0	getma.org/pdb.php?prot=SCN4A_HUMAN&from=1387&to=1597&var=N1417K	ENST00000435607		ENSG00000007314	10591		76	4.995		HGNC	p.N1417K		SCN4A		SNV			1				ENST00000435607	protein_coding	getma.org/?cm=var&var=hg19,17,62020223,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		N/K		T	high	4328/7805		getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1387&re=1597&var=N1417K	deleterious(0)	Q9H3L9_HUMAN			YES	SCN4A,missense_variant,p.Asn1417Lys,ENST00000578147,;SCN4A,missense_variant,p.Asn1417Lys,ENST00000435607,NM_000334.4;							MODERATE	4251/5511	N1417K	SCN4A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000396320		CCDS45761.1			1	
METTL25	0	LGGM	GRCh37	12	82792951	82792951	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	58	33	.	.	ENST00000248306.3:c.909A>G	p.Glu303=	p.E303=	ENST00000248306	NM_032230.2	303	gaA/gaG	0	1	1	UPI000013CC3E	0		ENST00000248306		ENSG00000127720	26228		91			HGNC	p.E303E		METTL25		SNV							ENST00000248306	protein_coding			Pfam_domain:PF13679,hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF0		E		G		978/2093				F8VZA8_HUMAN			YES	METTL25,synonymous_variant,p.=,ENST00000248306,NM_032230.2;METTL25,downstream_gene_variant,,ENST00000548200,;METTL25,upstream_gene_variant,,ENST00000550298,;METTL25,downstream_gene_variant,,ENST00000550058,;METTL25,non_coding_transcript_exon_variant,,ENST00000547357,;METTL25,downstream_gene_variant,,ENST00000551722,;							LOW	909/1812		MET25_HUMAN			Transcript			.	ENSP00000248306		CCDS9024.1			1	
PCLO	0	LGGM	GRCh37	7	82784504	82784504	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	75	33	.	.	ENST00000333891.9:c.1453G>A	p.Gly485Ser	p.G485S	ENST00000333891	NM_033026.5	485	Ggc/Agc	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		108	1.585		HGNC	p.G485S	COSM3924108,COSM3924109	PCLO		SNV			1			1,1	ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82784504,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		G/S		T	low	1791/20329		getma.org/?cm=msa&ty=f&p=B4DM68_HUMAN&rb=1&re=583&var=G485S					YES	PCLO,missense_variant,p.Gly485Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Gly485Ser,ENST00000423517,NM_014510.2;					1,1		MODERATE	1453/15429	G485S	PCLO_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000334319		CCDS47630.1			1	
KIF26B	0	LGGM	GRCh37	1	245847574	245847574	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	57	36	.	.	ENST00000407071.2:c.2298G>A	p.Gly766=	p.G766=	ENST00000407071	NM_018012.3	766	ggG/ggA	0	1	1	UPI0000695D71	0		ENST00000407071		ENSG00000162849	25484		93			HGNC	p.G766G		KIF26B		SNV							ENST00000407071	protein_coding			Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363,SMART_domains:SM00129,Superfamily_domains:SSF52540		G		A		2738/7287				B4DF75_HUMAN			YES	KIF26B,synonymous_variant,p.=,ENST00000366518,;KIF26B,synonymous_variant,p.=,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;							LOW	2298/6327		KI26B_HUMAN			Transcript			.	ENSP00000385545		CCDS44342.1			1	
CHEK2	0	LGGM	GRCh37	22	29121311	29121311	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	50	37	.	.	ENST00000328354.6:c.364G>T	p.Glu122Ter	p.E122*	ENST00000328354	NM_007194.3	122	Gaa/Taa	0	1		UPI00000316FF	0	NA	ENST00000328354		ENSG00000183765	16627		87	0		HGNC	p.E122X		CHEK2		SNV			1				ENST00000447421	protein_coding	getma.org/?cm=var&var=hg19,22,29121311,C,A&fts=all		PROSITE_profiles:PS50006,hmmpanther:PTHR24344:SF21,hmmpanther:PTHR24344,Pfam_domain:PF00498,Gene3D:2.60.200.20,SMART_domains:SM00240,Superfamily_domains:SSF49879		E/*		A	NA	446/1867		NA		B7ZBF2_HUMAN				CHEK2,stop_gained,p.Glu165Ter,ENST00000382580,NM_001005735.1;CHEK2,stop_gained,p.Glu122Ter,ENST00000405598,;CHEK2,stop_gained,p.Glu122Ter,ENST00000328354,NM_007194.3;CHEK2,stop_gained,p.Glu122Ter,ENST00000382566,;CHEK2,stop_gained,p.Glu122Ter,ENST00000404276,;CHEK2,stop_gained,p.Glu122Ter,ENST00000348295,NM_145862.2;CHEK2,stop_gained,p.Glu122Ter,ENST00000402731,;CHEK2,stop_gained,p.Glu153Ter,ENST00000439200,;CHEK2,stop_gained,p.Glu122Ter,ENST00000447421,;CHEK2,stop_gained,p.Glu132Ter,ENST00000398017,;CHEK2,5_prime_UTR_variant,,ENST00000544772,NM_001257387.1;CHEK2,5_prime_UTR_variant,,ENST00000425190,;CHEK2,intron_variant,,ENST00000382578,;CHEK2,intron_variant,,ENST00000403642,;CHEK2,intron_variant,,ENST00000382565,;CHEK2,stop_gained,p.Glu122Ter,ENST00000416671,;CHEK2,stop_gained,p.Glu122Ter,ENST00000433728,;CHEK2,stop_gained,p.Glu122Ter,ENST00000417588,;CHEK2,stop_gained,p.Glu122Ter,ENST00000448511,;CHEK2,stop_gained,p.Glu122Ter,ENST00000433028,;CHEK2,3_prime_UTR_variant,,ENST00000454252,;CHEK2,upstream_gene_variant,,ENST00000439346,;							HIGH	364/1632	E122*	CHK2_HUMAN			Transcript			.	ENSP00000329178		CCDS13843.1			1	
RYR2	0	LGGM	GRCh37	1	237550611	237550611	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	54	37	.	.	ENST00000366574.2:c.607G>A	p.Val203Met	p.V203M	ENST00000366574	NM_001035.2	203	Gtg/Atg	0	1	1	UPI0000DD0308	0	getma.org/pdb.php?prot=RYR2_HUMAN&from=9&to=223&var=V203M	ENST00000366574		ENSG00000198626	10484		91	2.44		HGNC	p.V203M		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237550611,G,A&fts=all		Gene3D:2.80.10.50,Pfam_domain:PF08709,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00472		V/M		A	medium	924/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=9&re=223&var=V203M		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Val203Met,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val187Met,ENST00000542537,;RYR2,missense_variant,p.Val201Met,ENST00000360064,;							MODERATE	607/14904	V203M	RYR2_HUMAN			Transcript		possibly_damaging(0.788)	.	ENSP00000355533		CCDS55691.1			1	
CD163L1	0	LGGM	GRCh37	12	7556348	7556348	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	40	38	.	.	ENST00000313599.3:c.1191C>A	p.Asn397Lys	p.N397K	ENST00000313599		397	aaC/aaA	0	1	1	UPI000013F5AD	0	getma.org/pdb.php?prot=C163B_HUMAN&from=372&to=469&var=N397K	ENST00000313599		ENSG00000177675	30375		78	1.18		HGNC	p.N43K		CD163L1		SNV							ENST00000545926	protein_coding	getma.org/?cm=var&var=hg19,12,7556348,G,T&fts=all		PROSITE_profiles:PS50287,hmmpanther:PTHR19331:SF260,hmmpanther:PTHR19331,Gene3D:3.10.250.10,Pfam_domain:PF00530,SMART_domains:SM00202,Superfamily_domains:SSF56487		N/K		T	low	1249/4615		getma.org/?cm=msa&ty=f&p=C163B_HUMAN&rb=372&re=469&var=N397K	tolerated(0.12)	F5H7R7_HUMAN			YES	CD163L1,missense_variant,p.Asn397Lys,ENST00000313599,;CD163L1,missense_variant,p.Asn407Lys,ENST00000416109,NM_174941.4;CD163L1,missense_variant,p.Asn397Lys,ENST00000396630,;CD163L1,missense_variant,p.Asn43Lys,ENST00000545926,;							MODERATE	1191/4362	N397K	C163B_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000315945		CCDS8577.1			1	
AKAP13	0	LGGM	GRCh37	15	86286814	86286814	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093001	H093001N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	57	53	.	.	ENST00000361243.2:c.8162A>T	p.Lys2721Ile	p.K2721I	ENST00000361243	NM_006738.5	2721	aAa/aTa	0	1		UPI0000167BA0	0	NA	ENST00000394518		ENSG00000170776	371		110	1.78		HGNC	p.K962I		AKAP13		SNV							ENST00000394510	protein_coding	getma.org/?cm=var&var=hg19,15,86286814,A,T&fts=all		hmmpanther:PTHR13944,hmmpanther:PTHR13944:SF4		K/I		T	low	8245/13215		getma.org/?cm=msa&ty=f&p=AKP13_HUMAN&rb=2681&re=2812&var=K2717I	deleterious(0.01)	H0YMI5_HUMAN,A8MYJ1_HUMAN				AKAP13,missense_variant,p.Lys2717Ile,ENST00000394518,NM_007200.4,NM_001270546.1;AKAP13,missense_variant,p.Lys2721Ile,ENST00000361243,NM_006738.5;AKAP13,missense_variant,p.Lys962Ile,ENST00000394510,;RP11-158M2.3,downstream_gene_variant,,ENST00000558375,;AKAP13,non_coding_transcript_exon_variant,,ENST00000560579,;AKAP13,upstream_gene_variant,,ENST00000560185,;AKAP13,downstream_gene_variant,,ENST00000559391,;							MODERATE	8150/8442	K2717I	AKP13_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000378026		CCDS32319.1			1	
ZNF208	0	LGGM	GRCh37	19	22154690	22154690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093001	H093001N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	99	57	.	.	ENST00000397126.4:c.3146C>A	p.Ala1049Glu	p.A1049E	ENST00000397126	NM_007153.3	1049	gCa/gAa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		156			HGNC	p.A1049E		ZNF208		SNV							ENST00000397126	protein_coding			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		A/E		T		3295/3992			tolerated(0.2)				YES	ZNF208,missense_variant,p.Ala1049Glu,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	3146/3843		ZN208_HUMAN			Transcript		benign(0.124)	.	ENSP00000380315		CCDS54240.1			1	
PAPOLB	0	LGGM	GRCh37	7	4899894	4899894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093001	H093001N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093001N.bam, H093001T.bam	Illumina HiSeq	67	60	.	.	ENST00000404991.1:c.1545G>T	p.Leu515Phe	p.L515F	ENST00000404991	NM_020144.4	515	ttG/ttT	0	1	1	UPI0000131304	0	NA	ENST00000404991		ENSG00000218823	15970		127	1.1		HGNC	p.L515F		PAPOLB		SNV							ENST00000404991	protein_coding	getma.org/?cm=var&var=hg19,7,4899894,C,A&fts=all		PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19		L/F		A	low	1732/4262		getma.org/?cm=msa&ty=f&p=PAPOB_HUMAN&rb=509&re=636&var=L515F	tolerated(0.44)	A4D1Z6_HUMAN			YES	PAPOLB,missense_variant,p.Leu515Phe,ENST00000404991,NM_020144.4;RADIL,intron_variant,,ENST00000399583,NM_018059.4;RADIL,intron_variant,,ENST00000536091,;RADIL,intron_variant,,ENST00000445392,;							MODERATE	1545/1911	L515F	PAPOB_HUMAN			Transcript		benign(0.049)	.	ENSP00000384700					1	
RPSA2	0	LGGM	GRCh37	19	24010808	24010808	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	5	2	.	.	ENST00000496398.1:c.845C>T	p.Ala282Val	p.A282V	ENST00000496398		282	gCt/gTt	0	1	1	UPI00001972FD	0		ENST00000496398		ENSG00000205246	36809		7			HGNC	p.A282V	rs758241319	RPSAP58	0.0833	SNV				0.00431			ENST00000354585	protein_coding			HAMAP:MF_03016,hmmpanther:PTHR11489		A/V		T		1268/1397	0.00904		tolerated(0.07)	C9JQR9_HUMAN,A6NE09_HUMAN			YES	RPSAP58,missense_variant,p.Ala282Val,ENST00000496398,;RPSAP58,missense_variant,p.Ala282Val,ENST00000354585,;RPSAP58,downstream_gene_variant,,ENST00000486528,;RP11-255H23.4,intron_variant,,ENST00000599944,;RP11-255H23.2,intron_variant,,ENST00000471224,;RP11-255H23.2,intron_variant,,ENST00000475499,;RP11-255H23.2,intron_variant,,ENST00000472297,;							MODERATE	845/888			0.0398		Transcript		benign(0.076)	common_variant	ENSP00000417240	0.00129				1	
RAB11FIP3	0	LGGM	GRCh37	16	538995	538995	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	9	2	.	.	ENST00000262305.4:c.1260G>T	p.Thr420=	p.T420=	ENST00000262305	NM_014700.3	420	acG/acT	0	1	1	UPI0000129C9C	0		ENST00000262305		ENSG00000090565	17224		11			HGNC	p.T124T		RAB11FIP3		SNV							ENST00000449879	protein_coding			hmmpanther:PTHR15726,hmmpanther:PTHR15726:SF6		T		T		1648/4831				F6X994_HUMAN			YES	RAB11FIP3,synonymous_variant,p.=,ENST00000262305,NM_014700.3;RAB11FIP3,synonymous_variant,p.=,ENST00000457159,;RAB11FIP3,synonymous_variant,p.=,ENST00000434585,;RAB11FIP3,synonymous_variant,p.=,ENST00000450428,NM_001142272.1;RAB11FIP3,synonymous_variant,p.=,ENST00000452814,;RAB11FIP3,synonymous_variant,p.=,ENST00000449879,;RAB11FIP3,synonymous_variant,p.=,ENST00000412256,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000483002,;RAB11FIP3,non_coding_transcript_exon_variant,,ENST00000495663,;AL049542.1,upstream_gene_variant,,ENST00000546124,;							LOW	1260/2271		RFIP3_HUMAN			Transcript			.	ENSP00000262305		CCDS32351.1			1	
GLYAT	0	LGGM	GRCh37	11	58482817	58482817	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	43	3	.	.	ENST00000344743.3:c.161A>C	p.Asn54Thr	p.N54T	ENST00000344743	NM_201648.2	54	aAt/aCt	0	1	1	UPI00003667C7	0	NA	ENST00000344743		ENSG00000149124	13734		46	1.175		HGNC	p.N54T		GLYAT		SNV							ENST00000278400	protein_coding	getma.org/?cm=var&var=hg19,11,58482817,T,G&fts=all		hmmpanther:PTHR15298,hmmpanther:PTHR15298:SF5,Pfam_domain:PF06021,Superfamily_domains:SSF55729		N/T		G	low	303/1735		getma.org/?cm=msa&ty=f&p=GLYAT_HUMAN&rb=2&re=206&var=N54T	tolerated(0.08)				YES	GLYAT,missense_variant,p.Asn54Thr,ENST00000344743,NM_201648.2;GLYAT,missense_variant,p.Asn54Thr,ENST00000278400,NM_005838.3;GLYAT,missense_variant,p.Asn54Thr,ENST00000529732,;GLYAT,upstream_gene_variant,,ENST00000586098,;							MODERATE	161/891	N54T	GLYAT_HUMAN			Transcript		benign(0.344)	.	ENSP00000340200		CCDS7970.1			1	
CARD14	0	LGGM	GRCh37	17	78163601	78163601	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	8	3	.	.	ENST00000573882.1:c.893G>T	p.Arg298Leu	p.R298L	ENST00000573882		298	cGa/cTa	0	1		UPI000013D81B	0	NA	ENST00000344227		ENSG00000141527	16446		11	1.445		HGNC	p.R298L		CARD14		SNV			1				ENST00000575500	protein_coding	getma.org/?cm=var&var=hg19,17,78163601,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14559,hmmpanther:PTHR14559:SF1		R/L		T	low	1094/3927		getma.org/?cm=msa&ty=f&p=CAR14_HUMAN&rb=291&re=324&var=R298L	deleterious(0.01)	I3L4Q8_HUMAN,I3L1Z7_HUMAN				CARD14,missense_variant,p.Arg298Leu,ENST00000573882,;CARD14,missense_variant,p.Arg298Leu,ENST00000344227,NM_024110.4;CARD14,missense_variant,p.Arg298Leu,ENST00000570421,NM_001257970.1;CARD14,missense_variant,p.Arg61Leu,ENST00000392434,;CARD14,non_coding_transcript_exon_variant,,ENST00000573754,;CARD14,upstream_gene_variant,,ENST00000574148,;CARD14,missense_variant,p.Arg298Leu,ENST00000575500,;CARD14,missense_variant,p.Arg95Leu,ENST00000571450,;CARD14,non_coding_transcript_exon_variant,,ENST00000571861,;CARD14,upstream_gene_variant,,ENST00000575666,;CARD14,downstream_gene_variant,,ENST00000572838,;							MODERATE	893/3015	R298L	CAR14_HUMAN			Transcript		benign(0.097)	.	ENSP00000344549		CCDS11768.1			1	
NEK10	0	LGGM	GRCh37	3	27350451	27350451	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	31	3	.	.	ENST00000341435.5:c.682G>T	p.Gly228Cys	p.G228C	ENST00000341435	NM_199347.2	228	Ggt/Tgt	0	1		UPI0000EE2A86	0	NA	ENST00000429845		ENSG00000163491	18592		34	0.345		HGNC	p.G228C		NEK10		SNV							ENST00000429845	protein_coding	getma.org/?cm=var&var=hg19,3,27350451,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		G/C		A	neutral	1045/4250		getma.org/?cm=msa&ty=f&p=NEK10_HUMAN&rb=1&re=509&var=G228C	tolerated(0.27)	C9JJN0_HUMAN				NEK10,missense_variant,p.Gly228Cys,ENST00000429845,;NEK10,missense_variant,p.Gly228Cys,ENST00000341435,NM_199347.2;NEK10,downstream_gene_variant,,ENST00000491627,;							MODERATE	682/3519	G228C	NEK10_HUMAN			Transcript		benign(0.091)	.	ENSP00000395849					1	
KIF21A	0	LGGM	GRCh37	12	39751099	39751099	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	43	3	.	.	ENST00000361418.5:c.1356A>G	p.Arg452=	p.R452=	ENST00000361418		452	agA/agG	0	1	1	UPI0000212ED9	0		ENST00000361418		ENSG00000139116	19349		46			HGNC	p.R452R		KIF21A		SNV			1				ENST00000361961	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398		R		C		1372/5044							YES	KIF21A,synonymous_variant,p.=,ENST00000395670,;KIF21A,synonymous_variant,p.=,ENST00000361961,NM_017641.3,NM_001173464.1;KIF21A,synonymous_variant,p.=,ENST00000361418,;KIF21A,synonymous_variant,p.=,ENST00000544797,NM_001173463.1;KIF21A,synonymous_variant,p.=,ENST00000541463,NM_001173465.1;KIF21A,synonymous_variant,p.=,ENST00000552908,;KIF21A,upstream_gene_variant,,ENST00000550429,;							LOW	1356/5025		KI21A_HUMAN			Transcript			.	ENSP00000354878		CCDS53776.1			1	
FREM2	0	LGGM	GRCh37	13	39343860	39343860	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	40	3	.	.	ENST00000280481.7:c.5556C>A	p.Thr1852=	p.T1852=	ENST00000280481	NM_207361.4	1852	acC/acA	0	1	1	UPI00005520B9	0		ENST00000280481		ENSG00000150893	25396		43			HGNC	p.T1852T		FREM2		SNV			1				ENST00000280481	protein_coding			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		T		A		5772/14876							YES	FREM2,synonymous_variant,p.=,ENST00000280481,NM_207361.4;							LOW	5556/9510		FREM2_HUMAN			Transcript			.	ENSP00000280481		CCDS31960.1			1	
UNC5B	0	LGGM	GRCh37	10	73053545	73053545	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	5	3	.	.	ENST00000335350.6:c.2030T>A	p.Leu677Gln	p.L677Q	ENST00000335350	NM_170744.4	677	cTg/cAg	0	1	1	UPI000000D753	0	getma.org/pdb.php?prot=UNC5B_HUMAN&from=544&to=688&var=L677Q	ENST00000335350		ENSG00000107731	12568		8	2.455		HGNC	p.L677Q		UNC5B		SNV							ENST00000335350	protein_coding	getma.org/?cm=var&var=hg19,10,73053545,T,A&fts=all		hmmpanther:PTHR12582:SF6,hmmpanther:PTHR12582		L/Q		A	medium	2446/6841		getma.org/?cm=msa&ty=f&p=UNC5B_HUMAN&rb=544&re=688&var=L677Q	deleterious(0.01)				YES	UNC5B,missense_variant,p.Leu677Gln,ENST00000335350,NM_170744.4;UNC5B,missense_variant,p.Leu666Gln,ENST00000373192,NM_001244889.1;							MODERATE	2030/2838	L677Q	UNC5B_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000334329		CCDS7309.1			1	
F11R	0	LGGM	GRCh37	1	160970829	160970829	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	29	3	.	.	ENST00000368026.6:c.222C>G	p.Cys74Trp	p.C74W	ENST00000368026	NM_016946.4	74	tgC/tgG	0	1	1	UPI0000000DC1	0	getma.org/pdb.php?prot=JAM1_HUMAN&from=28&to=128&var=C74W	ENST00000368026		ENSG00000158769	14685		32	2		HGNC	p.C74W		F11R		SNV							ENST00000335772	protein_coding	getma.org/?cm=var&var=hg19,1,160970829,G,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF4,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/W		C	medium	497/4835		getma.org/?cm=msa&ty=f&p=JAM1_HUMAN&rb=28&re=128&var=C74W	tolerated(0.14)	Q6FIB4_HUMAN			YES	F11R,missense_variant,p.Cys74Trp,ENST00000368026,NM_016946.4;F11R,missense_variant,p.Cys74Trp,ENST00000537746,;F11R,non_coding_transcript_exon_variant,,ENST00000472573,;F11R,non_coding_transcript_exon_variant,,ENST00000335772,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000289779,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000470694,;F11R,non_coding_transcript_exon_variant,,ENST00000602966,;							MODERATE	222/900	C74W	JAM1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000357005		CCDS1213.1			1	
KIF9	0	LGGM	GRCh37	3	47284567	47284567	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	26	3	.	.	ENST00000335044.2:c.1683C>A	p.Ser561=	p.S561=	ENST00000335044	NM_001134878.1	561	tcC/tcA	0	1		UPI000012DE55	0		ENST00000265529		ENSG00000088727	16666		29			HGNC	p.S561S	rs773224450	KIF9		SNV							ENST00000335044	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF191		S		T		2364/3311	1.50E-05							KIF9,synonymous_variant,p.=,ENST00000335044,NM_001134878.1,NM_182902.3;KIF9,synonymous_variant,p.=,ENST00000265529,;KIF9,synonymous_variant,p.=,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,;							LOW	1683/2373		KIF9_HUMAN			Transcript			.	ENSP00000265529	8.24E-06	CCDS2752.1			1	
POLR2F	0	LGGM	GRCh37	22	38363653	38363653	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	34	3	.	.	ENST00000442738.2:c.315C>A	p.Ile105=	p.I105=	ENST00000442738	NM_021974.3	105	atC/atA	0	1	1	UPI00001345E0	0		ENST00000442738		ENSG00000100142	9193		37			HGNC	p.I105I		POLR2F		SNV							ENST00000442738	protein_coding			Superfamily_domains:SSF63562,PIRSF_domain:PIRSF000778,PIRSF_domain:PIRSF500154,Gene3D:3.90.940.10,Pfam_domain:PF01192,hmmpanther:PTHR10773		I		A		440/2106				U3KQS8_HUMAN			YES	POLR2F,synonymous_variant,p.=,ENST00000442738,NM_021974.3;POLR2F,synonymous_variant,p.=,ENST00000470701,;POLR2F,synonymous_variant,p.=,ENST00000492213,;POLR2F,intron_variant,,ENST00000407936,;POLR2F,intron_variant,,ENST00000405557,;SOX10,downstream_gene_variant,,ENST00000396884,NM_006941.3;SOX10,downstream_gene_variant,,ENST00000360880,;SOX10,downstream_gene_variant,,ENST00000446929,;POLR2F,downstream_gene_variant,,ENST00000606538,;POLR2F,downstream_gene_variant,,ENST00000488684,;POLR2F,downstream_gene_variant,,ENST00000460648,;POLR2F,intron_variant,,ENST00000484894,;POLR2F,3_prime_UTR_variant,,ENST00000483713,;POLR2F,intron_variant,,ENST00000443002,;							LOW	315/384		RPAB2_HUMAN			Transcript			.	ENSP00000403852		CCDS13963.1			1	
ATP5G2	0	LGGM	GRCh37	12	54063704	54063704	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	13	3	.	.	ENST00000394349.3:c.239G>A	p.Arg80His	p.R80H	ENST00000394349	NM_005176.5	80	cGt/cAt	0	1		UPI00001261D3	0	NA	ENST00000549164		ENSG00000135390	842		16	2.65		HGNC	p.R23H	rs566625928	ATP5G2		SNV							ENST00000549164	protein_coding	getma.org/?cm=var&var=hg19,12,54063704,C,T&fts=all		hmmpanther:PTHR10031,hmmpanther:PTHR10031:SF9		R/H		T	medium	256/745		getma.org/?cm=msa&ty=f&p=AT5G2_HUMAN&rb=1&re=71&var=R23H	tolerated(0.08)					ATP5G2,missense_variant,p.Arg39His,ENST00000338662,NM_001002031.2;ATP5G2,missense_variant,p.Arg80His,ENST00000394349,NM_005176.5;ATP5G2,missense_variant,p.Arg23His,ENST00000549164,;ATP5G2,missense_variant,p.Arg23His,ENST00000602871,;ATP5G2,upstream_gene_variant,,ENST00000550241,;ATP5G2,3_prime_UTR_variant,,ENST00000552242,;ATP5G2,3_prime_UTR_variant,,ENST00000549748,;ATP5G2,non_coding_transcript_exon_variant,,ENST00000495596,;ATP5G2,non_coding_transcript_exon_variant,,ENST00000552120,;							MODERATE	68/426	R23H	AT5G2_HUMAN			Transcript		benign(0.006)	.	ENSP00000447317					1	
INHBE	0	LGGM	GRCh37	12	57850469	57850469	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	34	3	.	.	ENST00000266646.2:c.891C>G	p.Ala297=	p.A297=	ENST00000266646	NM_031479.3	297	gcC/gcG	0	1	1	UPI000012D42C	0		ENST00000266646		ENSG00000139269	24029		37			HGNC	p.A242A	rs138708295	INHBE		SNV	T:0.0002						ENST00000547970	protein_coding			Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF6,SMART_domains:SM00204,Superfamily_domains:SSF57501		A	T:0	G		1107/2429	1.50E-05						YES	INHBE,synonymous_variant,p.=,ENST00000266646,NM_031479.3;INHBE,synonymous_variant,p.=,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;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000528432,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,downstream_gene_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;							LOW	891/1053		INHBE_HUMAN			Transcript			.	ENSP00000266646	8.24E-06	CCDS8939.1			1	
EXOC3L1	0	LGGM	GRCh37	16	67221235	67221235	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	28	3	.	.	ENST00000314586.6:c.933G>T	p.Thr311=	p.T311=	ENST00000314586	NM_178516.3	311	acG/acT	0	1	1	UPI000013F886	0		ENST00000314586		ENSG00000179044	27540		31			HGNC	p.T255T		EXOC3L1		SNV							ENST00000563889	protein_coding			hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF12,Pfam_domain:PF06046		T		A		1174/2510				H3BTH9_HUMAN			YES	EXOC3L1,synonymous_variant,p.=,ENST00000314586,NM_178516.3;EXOC3L1,synonymous_variant,p.=,ENST00000545725,;EXOC3L1,synonymous_variant,p.=,ENST00000563889,;KIAA0895L,upstream_gene_variant,,ENST00000290881,;KIAA0895L,upstream_gene_variant,,ENST00000561621,;KIAA0895L,upstream_gene_variant,,ENST00000563902,NM_001040715.1;E2F4,upstream_gene_variant,,ENST00000379378,NM_001950.3;EXOC3L1,downstream_gene_variant,,ENST00000564418,;EXOC3L1,intron_variant,,ENST00000562887,;KIAA0895L,upstream_gene_variant,,ENST00000563831,;KIAA0895L,upstream_gene_variant,,ENST00000564423,;EXOC3L1,intron_variant,,ENST00000564324,;KIAA0895L,upstream_gene_variant,,ENST00000569349,;E2F4,upstream_gene_variant,,ENST00000567007,;E2F4,upstream_gene_variant,,ENST00000568839,;E2F4,upstream_gene_variant,,ENST00000561904,;E2F4,upstream_gene_variant,,ENST00000569573,;EXOC3L1,upstream_gene_variant,,ENST00000563536,;E2F4,upstream_gene_variant,,ENST00000563238,;E2F4,upstream_gene_variant,,ENST00000568485,;E2F4,upstream_gene_variant,,ENST00000565849,;							LOW	933/2241		EX3L1_HUMAN			Transcript			.	ENSP00000325674		CCDS10832.1			1	
RGL4	0	LGGM	GRCh37	22	24039402	24039402	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	33	3	.	.	ENST00000290691.5:c.1206G>A	p.Arg402=	p.R402=	ENST00000290691	NM_153615.1	402	agG/agA	0	1	1	UPI00000740FE	0		ENST00000290691		ENSG00000159496	31911		36			HGNC	p.R402R		RGL4		SNV							ENST00000290691	protein_coding			PROSITE_profiles:PS50009,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF28,Gene3D:2ii0A02,Pfam_domain:PF00617,SMART_domains:SM00147,Superfamily_domains:0041591		R		A		2376/2885				B5MCW5_HUMAN			YES	RGL4,synonymous_variant,p.=,ENST00000290691,NM_153615.1;RGL4,synonymous_variant,p.=,ENST00000401461,;RGL4,synonymous_variant,p.=,ENST00000423392,;RGL4,synonymous_variant,p.=,ENST00000452208,;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,,ENST00000417194,;GUSBP11,upstream_gene_variant,,ENST00000455485,;AP000347.2,downstream_gene_variant,,ENST00000432595,;RGL4,upstream_gene_variant,,ENST00000460167,;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,;							LOW	1206/1422		RGDSR_HUMAN			Transcript			.	ENSP00000290691		CCDS13811.1			1	
ARFGAP2	0	LGGM	GRCh37	11	47189529	47189529	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	27	3	.	.	ENST00000524782.1:c.1136G>T	p.Trp379Leu	p.W379L	ENST00000524782	NM_032389.4	379	tGg/tTg	0	1	1	UPI000006F4C6	0	NA	ENST00000524782		ENSG00000149182	13504		30	2.42		HGNC	p.W379L		ARFGAP2		SNV							ENST00000524782	protein_coding	getma.org/?cm=var&var=hg19,11,47189529,C,A&fts=all		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF194		W/L		A	medium	1365/2976		getma.org/?cm=msa&ty=f&p=ARFG2_HUMAN&rb=362&re=519&var=W379L	deleterious(0.04)	B7Z9M7_HUMAN			YES	ARFGAP2,missense_variant,p.Trp379Leu,ENST00000524782,NM_032389.4,NM_001242832.1;ARFGAP2,missense_variant,p.Trp243Leu,ENST00000426335,;ARFGAP2,missense_variant,p.Trp272Leu,ENST00000419701,;ARFGAP2,missense_variant,p.Trp110Leu,ENST00000319543,;ARFGAP2,missense_variant,p.Trp243Leu,ENST00000527927,;ARFGAP2,missense_variant,p.Trp101Leu,ENST00000527776,;ARFGAP2,missense_variant,p.Trp86Leu,ENST00000526342,;C11orf49,downstream_gene_variant,,ENST00000378618,NM_001003678.2;ARFGAP2,downstream_gene_variant,,ENST00000525398,;ARFGAP2,downstream_gene_variant,,ENST00000525314,;ARFGAP2,downstream_gene_variant,,ENST00000528444,;RP11-390K5.6,downstream_gene_variant,,ENST00000524412,;ARFGAP2,splice_region_variant,,ENST00000395449,;ARFGAP2,downstream_gene_variant,,ENST00000531750,;ARFGAP2,3_prime_UTR_variant,,ENST00000533243,;ARFGAP2,3_prime_UTR_variant,,ENST00000532478,;ARFGAP2,non_coding_transcript_exon_variant,,ENST00000525635,;ARFGAP2,downstream_gene_variant,,ENST00000527097,;ARFGAP2,downstream_gene_variant,,ENST00000529455,;ARFGAP2,downstream_gene_variant,,ENST00000532438,;ARFGAP2,downstream_gene_variant,,ENST00000526948,;							MODERATE	1136/1566	W379L	ARFG2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000434442		CCDS7926.1			1	
NCOA6	0	LGGM	GRCh37	20	33330814	33330814	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	46	3	.	.	ENST00000374796.2:c.3246G>T	p.Leu1082=	p.L1082=	ENST00000374796		1082	ctG/ctT	0	1		UPI000013C634	0		ENST00000359003		ENSG00000198646	15936		49			HGNC	p.L1082L		NCOA6		SNV							ENST00000374796	protein_coding			hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690		L		A		3587/7081								NCOA6,synonymous_variant,p.=,ENST00000374796,;NCOA6,synonymous_variant,p.=,ENST00000359003,NM_014071.3,NM_001242539.1;							LOW	3246/6192		NCOA6_HUMAN			Transcript			.	ENSP00000351894		CCDS13241.1			1	
MEP1A	0	LGGM	GRCh37	6	46787272	46787272	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	33	4	.	.	ENST00000230588.4:c.387G>A	p.Trp129Ter	p.W129*	ENST00000230588	NM_005588.2	129	tgG/tgA	0	1	1	UPI000006E4E9	0	NA	ENST00000230588		ENSG00000112818	7015	8.76E-05	37	0		HGNC	p.W129X	rs758694515	MEP1A		SNV							ENST00000230588	protein_coding	getma.org/?cm=var&var=hg19,6,46787272,G,A&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001196,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF311,SMART_domains:SM00235,Superfamily_domains:SSF55486		W/*		A	NA	396/2892		NA					YES	MEP1A,stop_gained,p.Trp129Ter,ENST00000230588,NM_005588.2;							HIGH	387/2241	W129*	MEP1A_HUMAN			Transcript			.	ENSP00000230588	8.24E-06	CCDS4918.1			1	
ADAMTS8	0	LGGM	GRCh37	11	130278415	130278415	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	68	4	.	.	ENST00000257359.6:c.2043G>A	p.Val681=	p.V681=	ENST00000257359	NM_007037.4	681	gtG/gtA	0	1	1	UPI000013CF5D	0		ENST00000257359		ENSG00000134917	224		72			HGNC	p.V681V	rs753226068	ADAMTS8		SNV							ENST00000257359	protein_coding			Prints_domain:PR01857,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41		V		T		2750/4010							YES	ADAMTS8,synonymous_variant,p.=,ENST00000257359,NM_007037.4;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;	0.000116						LOW	2043/2670		ATS8_HUMAN			Transcript			.	ENSP00000257359	8.26E-06	CCDS41732.1			1	
CYP2S1	0	LGGM	GRCh37	19	41707141	41707141	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	51	4	.	.	ENST00000310054.4:c.840A>G	p.Glu280=	p.E280=	ENST00000310054	NM_030622.6	280	gaA/gaG	0	1	1	UPI00000467C9	0		ENST00000310054		ENSG00000167600	15654		55			HGNC	p.T167A		CYP2S1		SNV							ENST00000600561	protein_coding			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF23,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		E		G		1056/2782							YES	CYP2S1,missense_variant,p.Thr167Ala,ENST00000600561,;CYP2S1,synonymous_variant,p.=,ENST00000310054,NM_030622.6;CYP2S1,synonymous_variant,p.=,ENST00000542619,;CYP2S1,synonymous_variant,p.=,ENST00000597754,;CYP2S1,upstream_gene_variant,,ENST00000593890,;CYP2S1,missense_variant,p.Thr117Ala,ENST00000593545,;CYP2S1,missense_variant,p.Thr12Ala,ENST00000595590,;							LOW	840/1515		CP2S1_HUMAN			Transcript			.	ENSP00000308032		CCDS12573.1			1	
SDK1	0	LGGM	GRCh37	7	4247828	4247828	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	48	4	.	.	ENST00000404826.2:c.5312A>C	p.His1771Pro	p.H1771P	ENST00000404826	NM_152744.3	1771	cAt/cCt	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=1703&to=1790&var=H1771P	ENST00000404826		ENSG00000146555	19307		52	2.24		HGNC	p.H1751P		SDK1		SNV							ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,4247828,A,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265		H/P		C	medium	5451/10397		getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=1703&re=1790&var=H1771P	deleterious(0)				YES	SDK1,missense_variant,p.His1771Pro,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.His1751Pro,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;							MODERATE	5312/6642	H1771P	SDK1_HUMAN			Transcript		possibly_damaging(0.722)	.	ENSP00000385899		CCDS34590.1			1	
PDE8A	0	LGGM	GRCh37	15	85659252	85659252	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	90	4	.	.	ENST00000310298.4:c.1437C>G	p.Ile479Met	p.I479M	ENST00000310298		479	atC/atG	0	1	1	UPI0000127C00	0	NA	ENST00000310298		ENSG00000073417	8793		94	1.87		HGNC	p.I479M		PDE8A		SNV							ENST00000394553	protein_coding	getma.org/?cm=var&var=hg19,15,85659252,C,G&fts=all		hmmpanther:PTHR11347:SF85,hmmpanther:PTHR11347		I/M		G	low	1689/3984		getma.org/?cm=msa&ty=f&p=PDE8A_HUMAN&rb=326&re=525&var=I479M	tolerated(0.08)	Q9UMB5_HUMAN,Q86XV4_HUMAN,B3KV57_HUMAN			YES	PDE8A,missense_variant,p.Ile479Met,ENST00000310298,;PDE8A,missense_variant,p.Ile479Met,ENST00000394553,NM_002605.2;PDE8A,missense_variant,p.Ile407Met,ENST00000557957,NM_001243137.1;PDE8A,missense_variant,p.Ile433Met,ENST00000339708,NM_173454.1;PDE8A,downstream_gene_variant,,ENST00000557819,;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,,ENST00000561374,;PDE8A,non_coding_transcript_exon_variant,,ENST00000560333,;PDE8A,upstream_gene_variant,,ENST00000561024,;PDE8A,downstream_gene_variant,,ENST00000558543,;PDE8A,downstream_gene_variant,,ENST00000557954,;							MODERATE	1437/2490	I479M	PDE8A_HUMAN			Transcript		benign(0.025)	.	ENSP00000311453		CCDS10336.1			1	
MED15	0	LGGM	GRCh37	22	20918748	20918748	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	36	4	.	.	ENST00000263205.7:c.463C>T	p.Leu155Phe	p.L155F	ENST00000263205	NM_001003891.1	155	Ctc/Ttc	0	1	1	UPI00001313C4	0	NA	ENST00000263205		ENSG00000099917	14248		40	0.9		HGNC	p.L155F		MED15		SNV							ENST00000263205	protein_coding	getma.org/?cm=var&var=hg19,22,20918748,C,T&fts=all		Pfam_domain:PF09606,hmmpanther:PTHR31804,Low_complexity_(Seg):seg		L/F		T	low	532/3351		getma.org/?cm=msa&ty=f&p=MED15_HUMAN&rb=17&re=788&var=L155F	tolerated_low_confidence(0.16)	Q69YK5_HUMAN,C9JZV5_HUMAN,C9JM58_HUMAN,C9JGN2_HUMAN,C9J1I1_HUMAN,B4DM43_HUMAN,B3KWF1_HUMAN			YES	MED15,missense_variant,p.Leu155Phe,ENST00000263205,NM_001003891.1;MED15,missense_variant,p.Leu155Phe,ENST00000292733,NM_015889.3;MED15,missense_variant,p.Leu129Phe,ENST00000406969,;MED15,missense_variant,p.Leu44Phe,ENST00000425759,;MED15,missense_variant,p.Leu129Phe,ENST00000541476,;MED15,missense_variant,p.Leu84Phe,ENST00000382974,;MED15,missense_variant,p.Leu129Phe,ENST00000414658,;MED15,missense_variant,p.Leu116Phe,ENST00000457322,;MED15,missense_variant,p.Leu58Phe,ENST00000432052,;MED15,missense_variant,p.Leu108Phe,ENST00000424287,;MED15,missense_variant,p.Leu96Phe,ENST00000423862,;MED15,missense_variant,p.Leu37Phe,ENST00000428629,;MED15,5_prime_UTR_variant,,ENST00000542773,;MED15,non_coding_transcript_exon_variant,,ENST00000487550,;MED15,non_coding_transcript_exon_variant,,ENST00000477824,;MED15,non_coding_transcript_exon_variant,,ENST00000473028,;MED15,upstream_gene_variant,,ENST00000478831,;MED15,3_prime_UTR_variant,,ENST00000433831,;MED15,3_prime_UTR_variant,,ENST00000441501,;MED15,3_prime_UTR_variant,,ENST00000444094,;MED15,non_coding_transcript_exon_variant,,ENST00000492381,;MED15,non_coding_transcript_exon_variant,,ENST00000476767,;							MODERATE	463/2367	L155F	MED15_HUMAN			Transcript		unknown(0)	.	ENSP00000263205		CCDS33602.1			1	
SETD2	0	LGGM	GRCh37	3	47161822	47161822	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	41	4	.	.	ENST00000409792.3:c.4304A>T	p.Glu1435Val	p.E1435V	ENST00000409792	NM_014159.6	1435	gAg/gTg	0	1	1	UPI00017E10FB	0	NA	ENST00000409792		ENSG00000181555	18420		45	0.695		HGNC	p.E1435V		SETD2		SNV			1				ENST00000409792	protein_coding	getma.org/?cm=var&var=hg19,3,47161822,T,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF294		E/V		A	neutral	4347/8142		getma.org/?cm=msa&ty=f&p=SETD2_HUMAN&rb=1254&re=1453&var=E1435V	deleterious(0.01)	C9JG86_HUMAN			YES	SETD2,missense_variant,p.Glu1435Val,ENST00000409792,NM_014159.6;SETD2,downstream_gene_variant,,ENST00000412450,;SETD2,missense_variant,p.Glu1307Val,ENST00000330022,;SETD2,missense_variant,p.Glu1153Val,ENST00000431180,;SETD2,missense_variant,p.Glu1069Val,ENST00000445387,;							MODERATE	4304/7695	E1435V	SETD2_HUMAN			Transcript		benign(0.432)	.	ENSP00000386759		CCDS2749.2			1	
TEP1	0	LGGM	GRCh37	14	20841192	20841192	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	44	4	.	.	ENST00000262715.5:c.6929C>A	p.Ala2310Asp	p.A2310D	ENST00000262715	NM_007110.4	2310	gCt/gAt	0	1	1	UPI000013D30B	0	getma.org/pdb.php?prot=TEP1_HUMAN&from=2267&to=2466&var=A2310D	ENST00000262715		ENSG00000129566	11726		48	2.47		HGNC	p.A648D		TEP1		SNV							ENST00000545983	protein_coding	getma.org/?cm=var&var=hg19,14,20841192,G,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF402,PROSITE_profiles:PS50294		A/D		T	medium	6970/10695		getma.org/?cm=msa&ty=f&p=TEP1_HUMAN&rb=2267&re=2466&var=A2310D	tolerated(0.07)	G3V591_HUMAN			YES	TEP1,missense_variant,p.Ala2310Asp,ENST00000262715,NM_007110.4;TEP1,missense_variant,p.Ala2202Asp,ENST00000556935,;TEP1,missense_variant,p.Ala648Asp,ENST00000545983,;TEP1,missense_variant,p.Ala17Asp,ENST00000553984,;TEP1,missense_variant,p.Ala1653Asp,ENST00000555008,;TEP1,missense_variant,p.Ala23Asp,ENST00000553365,;TEP1,3_prime_UTR_variant,,ENST00000555727,;TEP1,3_prime_UTR_variant,,ENST00000557314,;TEP1,downstream_gene_variant,,ENST00000556488,;TEP1,downstream_gene_variant,,ENST00000471684,;							MODERATE	6929/7884	A2310D	TEP1_HUMAN			Transcript		benign(0.358)	.	ENSP00000262715		CCDS9548.1			1	
PSMB5	0	LGGM	GRCh37	14	23504079	23504079	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	20	4	.	.	ENST00000361611.6:c.12C>T	p.Ala4=	p.A4=	ENST00000361611	NM_002797.3	4	gcC/gcT	0	1	1	UPI000013C701	0		ENST00000361611		ENSG00000100804	9542		24			HGNC	p.A4A		PSMB5		SNV							ENST00000460922	protein_coding			hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF51		A		A		276/1294							YES	PSMB5,synonymous_variant,p.=,ENST00000361611,NM_002797.3;PSMB5,synonymous_variant,p.=,ENST00000493471,NM_001144932.1;PSMB5,synonymous_variant,p.=,ENST00000460922,;PSMB5,intron_variant,,ENST00000425762,NM_001130725.1;PSMB5,upstream_gene_variant,,ENST00000555895,;AL132780.1,upstream_gene_variant,,ENST00000385031,;PSMB5,synonymous_variant,p.=,ENST00000334454,;							LOW	12/792		PSB5_HUMAN			Transcript			.	ENSP00000355325		CCDS9584.1			1	
ADAM21	0	LGGM	GRCh37	14	70925229	70925229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	47	4	.	.	ENST00000603540.1:c.1013C>T	p.Thr338Ile	p.T338I	ENST00000603540	NM_003813.3	338	aCt/aTt	0	1	1	UPI000013D756	0	getma.org/pdb.php?prot=ADA21_HUMAN&from=208&to=398&var=T338I	ENST00000603540		ENSG00000139985	200		51	0.94		HGNC	p.T338I		ADAM21		SNV							ENST00000267499	protein_coding	getma.org/?cm=var&var=hg19,14,70925229,C,T&fts=all		Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01421,hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905,PROSITE_profiles:PS50215		T/I		T	low	1271/2658		getma.org/?cm=msa&ty=f&p=ADA21_HUMAN&rb=208&re=398&var=T338I	tolerated(0.45)				YES	ADAM21,missense_variant,p.Thr338Ile,ENST00000603540,NM_003813.3;ADAM21,missense_variant,p.Thr338Ile,ENST00000267499,;RP11-486O13.4,intron_variant,,ENST00000556646,;							MODERATE	1013/2169	T338I	ADA21_HUMAN			Transcript		benign(0.085)	.	ENSP00000474385		CCDS9804.1			1	
RYR2	0	LGGM	GRCh37	1	237608733	237608733	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	108	5	.	.	ENST00000366574.2:c.1203T>C	p.Asp401=	p.D401=	ENST00000366574	NM_001035.2	401	gaT/gaC	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		113			HGNC	p.D385D		RYR2		SNV			1				ENST00000542537	protein_coding			Gene3D:2.80.10.50,PROSITE_profiles:PS50919,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,Superfamily_domains:SSF82109		D		C		1520/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;							LOW	1203/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
NAV3	0	LGGM	GRCh37	12	78392200	78392200	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	32	5	.	.	ENST00000536525.2:c.824G>A	p.Ser275Asn	p.S275N	ENST00000536525	NM_014903.4	275	aGc/aAc	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		37	1.665		HGNC	p.S275N		NAV3		SNV							ENST00000549464	protein_coding	getma.org/?cm=var&var=hg19,12,78392200,G,A&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		S/N		A	low	997/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=185&re=384&var=S275N	deleterious(0)	F8VZV4_HUMAN				NAV3,missense_variant,p.Ser275Asn,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ser275Asn,ENST00000228327,;NAV3,missense_variant,p.Ser275Asn,ENST00000266692,;NAV3,missense_variant,p.Ser275Asn,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Ser275Asn,ENST00000549464,;NAV3,missense_variant,p.Ser99Asn,ENST00000550503,;NAV3,non_coding_transcript_exon_variant,,ENST00000547725,;							MODERATE	824/7158	S275N	NAV3_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000381007		CCDS66432.1			1	
TMED2	0	LGGM	GRCh37	12	124071369	124071369	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	36	5	.	.	ENST00000262225.3:c.256A>G	p.Met86Val	p.M86V	ENST00000262225	NM_006815.3	86	Atg/Gtg	0	1	1	UPI0000001296	0	NA	ENST00000262225		ENSG00000086598	16996		41	1.59		HGNC	p.M1V		TMED2		SNV							ENST00000509052	protein_coding	getma.org/?cm=var&var=hg19,12,124071369,A,G&fts=all		PROSITE_profiles:PS50866,hmmpanther:PTHR22811:SF55,hmmpanther:PTHR22811,Pfam_domain:PF01105,Superfamily_domains:0041713		M/V		G	low	362/2552		getma.org/?cm=msa&ty=f&p=TMED2_HUMAN&rb=20&re=196&var=M86V	tolerated(0.32)	Q6FHT8_HUMAN,F5GX39_HUMAN			YES	TMED2,start_lost,p.Met1?,ENST00000509052,;TMED2,missense_variant,p.Met86Val,ENST00000262225,NM_006815.3;TMED2,missense_variant,p.Met86Val,ENST00000438031,;RP11-486O12.2,upstream_gene_variant,,ENST00000498967,;TMED2,non_coding_transcript_exon_variant,,ENST00000543425,;TMED2,non_coding_transcript_exon_variant,,ENST00000544188,;							MODERATE	256/606	M86V	TMED2_HUMAN			Transcript		benign(0.014)	.	ENSP00000262225		CCDS9250.1			1	
XAB2	0	LGGM	GRCh37	19	7689315	7689315	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	13	5	.	.	ENST00000358368.4:c.839A>G	p.Glu280Gly	p.E280G	ENST00000358368	NM_020196.2	280	gAg/gGg	0	1	1	UPI0000001BDE	0	NA	ENST00000358368		ENSG00000076924	14089		18	3.35		HGNC	p.E277G		XAB2		SNV							ENST00000534844	protein_coding	getma.org/?cm=var&var=hg19,19,7689315,T,C&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF07719,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF13,SMART_domains:SM00028,SMART_domains:SM00386		E/G		C	medium	877/2667		getma.org/?cm=msa&ty=f&p=SYF1_HUMAN&rb=256&re=285&var=E280G	deleterious(0)	Q68CN2_HUMAN,F5H315_HUMAN			YES	XAB2,missense_variant,p.Glu280Gly,ENST00000358368,NM_020196.2;XAB2,missense_variant,p.Glu277Gly,ENST00000534844,;XAB2,non_coding_transcript_exon_variant,,ENST00000595288,;XAB2,upstream_gene_variant,,ENST00000600230,;XAB2,upstream_gene_variant,,ENST00000596134,;							MODERATE	839/2568	E280G	SYF1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000351137		CCDS32892.1			1	
SEC31B	0	LGGM	GRCh37	10	102247537	102247537	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	24	5	.	.	ENST00000370345.3:c.3376G>A	p.Val1126Met	p.V1126M	ENST00000370345	NM_015490.3	1126	Gtg/Atg	0	1	1	UPI0000070A8E	0	NA	ENST00000370345		ENSG00000075826	23197	8.83E-05	29	0.55		HGNC	p.V1126M	rs373491242	SEC31B	0.00112	SNV	T:0.0002			0.000397			ENST00000370345	protein_coding	getma.org/?cm=var&var=hg19,10,102247537,C,T&fts=all	T:0	hmmpanther:PTHR13923,hmmpanther:PTHR13923:SF22		V/M	T:0	T	neutral	3474/4612	4.58E-05	getma.org/?cm=msa&ty=f&p=SC31B_HUMAN&rb=1001&re=1177&var=V1126M	deleterious(0)		T:0	T:0	YES	SEC31B,missense_variant,p.Val1126Met,ENST00000370345,NM_015490.3;WNT8B,downstream_gene_variant,,ENST00000343737,NM_003393.3;SEC31B,3_prime_UTR_variant,,ENST00000479697,;SEC31B,3_prime_UTR_variant,,ENST00000462434,;SEC31B,3_prime_UTR_variant,,ENST00000469546,;SEC31B,3_prime_UTR_variant,,ENST00000482456,;SEC31B,non_coding_transcript_exon_variant,,ENST00000492667,;SEC31B,non_coding_transcript_exon_variant,,ENST00000485800,;		T:0.0004					MODERATE	3376/3540	V1126M	SC31B_HUMAN		T:0	Transcript		benign(0.394)	common_variant	ENSP00000359370	0.000222	CCDS7495.1		T:0.002	1	
OR7A17	0	LGGM	GRCh37	19	14991623	14991623	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	118	5	.	.	ENST00000327462.2:c.545A>T	p.Asn182Ile	p.N182I	ENST00000327462	NM_030901.1	182	aAt/aTt	0	1	1	UPI0000041DF9	0	NA	ENST00000327462		ENSG00000185385	8363		123	1.275		HGNC	p.N182I		OR7A17		SNV							ENST00000327462	protein_coding	getma.org/?cm=var&var=hg19,19,14991623,T,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF263,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		N/I		A	low	642/1127		getma.org/?cm=msa&ty=f&p=OR7AH_HUMAN&rb=139&re=283&var=N182I	deleterious_low_confidence(0.02)	Q9UEB1_HUMAN			YES	OR7A17,missense_variant,p.Asn182Ile,ENST00000327462,NM_030901.1;							MODERATE	545/930	N182I	OR7AH_HUMAN			Transcript		benign(0.151)	.	ENSP00000328144		CCDS12319.1			1	
MUC16	0	LGGM	GRCh37	19	9064799	9064799	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	130	5	.	.	ENST00000397910.4:c.22647C>T	p.Thr7549=	p.T7549=	ENST00000397910	NM_024690.2	7549	acC/acT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		135			HGNC	p.T7549T	COSM3542628,COSM3542629,COSM3542627	MUC16		SNV						1,1,1	ENST00000397910	protein_coding			Low_complexity_(Seg):seg		T		A		22851/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;					1,1,1		LOW	22647/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
GULP1	0	LGGM	GRCh37	2	189348213	189348213	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	12	5	.	.	ENST00000409580.1:c.84T>A	p.Asn28Lys	p.N28K	ENST00000409580		28	aaT/aaA	0	1		UPI0000031CE3	0	getma.org/pdb.php?prot=GULP1_HUMAN&from=27&to=155&var=N28K	ENST00000359135		ENSG00000144366	18649		17	0.225		HGNC	p.N28K		GULP1		SNV							ENST00000409637	protein_coding	getma.org/?cm=var&var=hg19,2,189348213,T,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF31,SMART_domains:SM00462,Superfamily_domains:SSF50729		N/K		A	neutral	596/3342		getma.org/?cm=msa&ty=f&p=GULP1_HUMAN&rb=27&re=155&var=N28K	tolerated(0.29)	B8ZZL1_HUMAN				GULP1,missense_variant,p.Asn28Lys,ENST00000409580,;GULP1,missense_variant,p.Asn28Lys,ENST00000359135,;GULP1,missense_variant,p.Asn28Lys,ENST00000409843,NM_016315.3,NM_001252668.1;GULP1,missense_variant,p.Asn28Lys,ENST00000409609,;GULP1,missense_variant,p.Asn28Lys,ENST00000410051,;GULP1,missense_variant,p.Asn28Lys,ENST00000409830,;GULP1,missense_variant,p.Asn28Lys,ENST00000409637,;GULP1,missense_variant,p.Asn28Lys,ENST00000409805,NM_001252669.1;GULP1,missense_variant,p.Asn28Lys,ENST00000409927,;GULP1,non_coding_transcript_exon_variant,,ENST00000479019,;							MODERATE	84/915	N28K	GULP1_HUMAN			Transcript		benign(0.033)	.	ENSP00000352047		CCDS2295.1			1	
SCLY	0	LGGM	GRCh37	2	238990351	238990351	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	18	5	.	.	ENST00000254663.6:c.510G>A	p.Ala170=	p.A170=	ENST00000254663	NM_016510.5	170	gcG/gcA	0	1	1	UPI0000EE3842	0		ENST00000254663		ENSG00000132330	18161	0.000259	23			HGNC	p.A162A	rs767965636,COSM292926	SCLY		SNV						0,1	ENST00000555827	protein_coding			hmmpanther:PTHR11601:SF21,hmmpanther:PTHR11601,Gene3D:3.40.640.10,Pfam_domain:PF00266,PIRSF_domain:PIRSF005572,Superfamily_domains:SSF53383		A		A		652/2562	7.52E-05			B4DDP9_HUMAN			YES	SCLY,splice_region_variant,p.=,ENST00000254663,NM_016510.5;SCLY,splice_region_variant,p.=,ENST00000555827,;SCLY,splice_region_variant,p.=,ENST00000409736,;SCLY,splice_region_variant,p.=,ENST00000422984,;SCLY,splice_region_variant,p.=,ENST00000373332,;SCLY,splice_region_variant,p.=,ENST00000437134,;SCLY,splice_region_variant,p.=,ENST00000431487,;SCLY,splice_region_variant,p.=,ENST00000413463,;SCLY,intron_variant,,ENST00000429612,;SCLY,intron_variant,,ENST00000412508,;SCLY,upstream_gene_variant,,ENST00000450965,;SCLY,upstream_gene_variant,,ENST00000433750,;SCLY,upstream_gene_variant,,ENST00000440143,;SCLY,splice_region_variant,,ENST00000480859,;SCLY,splice_region_variant,,ENST00000480357,;UBE2F-SCLY,splice_region_variant,,ENST00000449891,;SCLY,splice_region_variant,,ENST00000482031,;SCLY,splice_region_variant,,ENST00000443532,;SCLY,splice_region_variant,,ENST00000423324,;SCLY,splice_region_variant,,ENST00000446202,;SCLY,non_coding_transcript_exon_variant,,ENST00000497951,;	0.000116				0,1		LOW	510/1362		SCLY_HUMAN			Transcript			.	ENSP00000254663	8.24E-05	CCDS2524.2	0.00111		1	
LBP	0	LGGM	GRCh37	20	36997747	36997747	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	68	5	.	.	ENST00000217407.2:c.1090A>G	p.Ile364Val	p.I364V	ENST00000217407	NM_004139.3	364	Ata/Gta	0	1	1	UPI000013C728	0	getma.org/pdb.php?prot=LBP_HUMAN&from=241&to=478&var=I364V	ENST00000217407		ENSG00000129988	6517		73	0.915		HGNC	p.I364V		LBP		SNV							ENST00000217407	protein_coding	getma.org/?cm=var&var=hg19,20,36997747,A,G&fts=all		Gene3D:1ewfA02,Pfam_domain:PF02886,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF43,SMART_domains:SM00329,Superfamily_domains:SSF55394		I/V		G	low	1251/1961		getma.org/?cm=msa&ty=f&p=LBP_HUMAN&rb=241&re=478&var=I364V	tolerated(0.21)				YES	LBP,missense_variant,p.Ile364Val,ENST00000217407,NM_004139.3;							MODERATE	1090/1446	I364V	LBP_HUMAN			Transcript		benign(0.162)	.	ENSP00000217407		CCDS13304.1			1	
ZNF160	0	LGGM	GRCh37	19	53573220	53573220	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	113	5	.	.	ENST00000429604.1:c.567G>A	p.Leu189=	p.L189=	ENST00000429604	NM_198893.2	189	ctG/ctA	0	1		UPI0000202B37	0		ENST00000418871		ENSG00000170949	12948		118			HGNC	p.L189L		ZNF160		SNV							ENST00000418871	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF132		L		T		866/4219				M0QZI7_HUMAN,M0QZ49_HUMAN,M0QXU9_HUMAN				ZNF160,synonymous_variant,p.=,ENST00000601421,;ZNF160,synonymous_variant,p.=,ENST00000429604,NM_198893.2,NM_001102603.1;ZNF160,synonymous_variant,p.=,ENST00000599056,;ZNF160,synonymous_variant,p.=,ENST00000418871,NM_033288.3;ZNF160,synonymous_variant,p.=,ENST00000599247,;ZNF160,downstream_gene_variant,,ENST00000355147,;ZNF160,downstream_gene_variant,,ENST00000601982,;							LOW	567/2457		ZN160_HUMAN			Transcript			.	ENSP00000409597		CCDS12859.1			1	
DCT	0	LGGM	GRCh37	13	95095729	95095729	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	23	5	.	.	ENST00000446125.1:c.1441T>C	p.Ser481Pro	p.S481P	ENST00000446125	NM_001129889.1	481	Tca/Cca	0	1		UPI0000000A09	0	NA	ENST00000377028		ENSG00000080166	2709		28	1.995		HGNC	p.S448P		DCT		SNV							ENST00000377028	protein_coding	getma.org/?cm=var&var=hg19,13,95095729,A,G&fts=all		hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4,Gene3D:1.10.1280.10,Superfamily_domains:SSF48056		S/P		G	medium	1756/4568		getma.org/?cm=msa&ty=f&p=TYRP2_HUMAN&rb=410&re=467&var=S448P	deleterious(0)	Q9NQD8_HUMAN,Q0PK43_HUMAN				DCT,missense_variant,p.Ser448Pro,ENST00000377028,NM_001922.3;DCT,missense_variant,p.Ser481Pro,ENST00000446125,NM_001129889.1;DCT,3_prime_UTR_variant,,ENST00000483392,;							MODERATE	1342/1560	S448P	TYRP2_HUMAN			Transcript		benign(0.017)	.	ENSP00000366227		CCDS9470.1			1	
CASZ1	0	LGGM	GRCh37	1	10725519	10725519	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	12	5	.	.	ENST00000377022.3:c.126G>T	p.Val42=	p.V42=	ENST00000377022	NM_001079843.2	42	gtG/gtT	0	1	1	UPI0000EBB7D6	0		ENST00000377022		ENSG00000130940	26002		17			HGNC	p.V42V		CASZ1		SNV							ENST00000377022	protein_coding			hmmpanther:PTHR12451		V		A		444/7936							YES	CASZ1,synonymous_variant,p.=,ENST00000377022,NM_001079843.2;CASZ1,synonymous_variant,p.=,ENST00000344008,NM_017766.4;CASZ1,non_coding_transcript_exon_variant,,ENST00000478728,;CASZ1,non_coding_transcript_exon_variant,,ENST00000496432,;CASZ1,upstream_gene_variant,,ENST00000492173,;							LOW	126/5280		CASZ1_HUMAN			Transcript			.	ENSP00000366221		CCDS41246.1			1	
IL16	0	LGGM	GRCh37	15	81572004	81572004	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	22	5	.	.	ENST00000302987.4:c.970A>T	p.Ser324Cys	p.S324C	ENST00000302987		324	Agc/Tgc	0	1	1	UPI0000229CE7	0	NA	ENST00000302987		ENSG00000172349	5980		27	2.08		HGNC	p.S324C		IL16		SNV							ENST00000394660	protein_coding	getma.org/?cm=var&var=hg19,15,81572004,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2		S/C		T	medium	970/3999		getma.org/?cm=msa&ty=f&p=IL16_HUMAN&rb=301&re=466&var=S324C	deleterious(0)	H0YLL1_HUMAN			YES	IL16,missense_variant,p.Ser324Cys,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,missense_variant,p.Ser324Cys,ENST00000302987,;IL16,missense_variant,p.Ser324Cys,ENST00000559388,;IL16,missense_variant,p.Ser324Cys,ENST00000559383,;IL16,missense_variant,p.Ser324Cys,ENST00000360547,;IL16,missense_variant,p.Ser41Cys,ENST00000560115,;IL16,missense_variant,p.Ser324Cys,ENST00000560241,;							MODERATE	970/3999	S324C	IL16_HUMAN			Transcript		benign(0.132)	.	ENSP00000302935		CCDS42069.1			1	
SLC25A3	0	LGGM	GRCh37	12	98992371	98992371	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	44	5	.	.	ENST00000228318.3:c.534T>G	p.Ile178Met	p.I178M	ENST00000228318	NM_005888.3	178	atT/atG	0	1	1	UPI000012F45B	0	getma.org/pdb.php?prot=MPCP_HUMAN&from=161&to=248&var=I178M	ENST00000228318		ENSG00000075415	10989		49	2.1		HGNC	p.I177M		SLC25A3		SNV			1				ENST00000401722	protein_coding	getma.org/?cm=var&var=hg19,12,98992371,T,G&fts=all		PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF173,hmmpanther:PTHR24089,Pfam_domain:PF00153,Gene3D:1okcA00,Superfamily_domains:0048588		I/M		G	medium	654/1678		getma.org/?cm=msa&ty=f&p=MPCP_HUMAN&rb=161&re=248&var=I178M	tolerated(0.05)	Q6MZF9_HUMAN,F8VZL5_HUMAN,F8VWR4_HUMAN			YES	SLC25A3,missense_variant,p.Ile177Met,ENST00000188376,NM_213611.2,NM_002635.3;SLC25A3,missense_variant,p.Ile178Met,ENST00000228318,NM_005888.3;SLC25A3,missense_variant,p.Ile177Met,ENST00000401722,;SLC25A3,missense_variant,p.Ile177Met,ENST00000548847,;SLC25A3,missense_variant,p.Ile178Met,ENST00000551917,;SLC25A3,missense_variant,p.Ile177Met,ENST00000552981,;SLC25A3,missense_variant,p.Ile177Met,ENST00000549338,;SLC25A3,downstream_gene_variant,,ENST00000550695,;SLC25A3,downstream_gene_variant,,ENST00000551265,;SLC25A3,downstream_gene_variant,,ENST00000547534,;SLC25A3,downstream_gene_variant,,ENST00000548046,;SNORA53,upstream_gene_variant,,ENST00000391141,NR_003015.1;SLC25A3,3_prime_UTR_variant,,ENST00000551123,;SLC25A3,non_coding_transcript_exon_variant,,ENST00000546766,;SLC25A3,upstream_gene_variant,,ENST00000547869,;SLC25A3,downstream_gene_variant,,ENST00000547908,;SLC25A3,upstream_gene_variant,,ENST00000548480,;SLC25A3,downstream_gene_variant,,ENST00000547444,;							MODERATE	534/1089	I178M	MPCP_HUMAN			Transcript		possibly_damaging(0.758)	.	ENSP00000228318		CCDS9066.1			1	
NMT1	0	LGGM	GRCh37	17	43181112	43181112	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	100	5	.	.	ENST00000592782.1:c.1200T>G	p.Phe400Leu	p.F400L	ENST00000592782		400	ttT/ttG	0	1		UPI0000130275	0	getma.org/pdb.php?prot=NMT1_HUMAN&from=308&to=495&var=F400L	ENST00000258960		ENSG00000136448	7857		105	3.67		HGNC	p.F400L		NMT1		SNV							ENST00000258960	protein_coding	getma.org/?cm=var&var=hg19,17,43181112,T,G&fts=all		Gene3D:3.40.630.30,Pfam_domain:PF02799,PIRSF_domain:PIRSF015892,hmmpanther:PTHR11377,hmmpanther:PTHR11377:SF7,Superfamily_domains:SSF55729		F/L		G	high	1218/4879		getma.org/?cm=msa&ty=f&p=NMT1_HUMAN&rb=308&re=495&var=F400L	deleterious(0)	Q9Y465_HUMAN,Q96HI4_HUMAN,K7EN82_HUMAN				NMT1,missense_variant,p.Phe400Leu,ENST00000592782,;NMT1,missense_variant,p.Phe400Leu,ENST00000258960,NM_021079.3;NMT1,upstream_gene_variant,,ENST00000587120,;NMT1,upstream_gene_variant,,ENST00000587670,;NMT1,non_coding_transcript_exon_variant,,ENST00000587014,;NMT1,downstream_gene_variant,,ENST00000543908,;NMT1,upstream_gene_variant,,ENST00000591931,;NMT1,downstream_gene_variant,,ENST00000590310,;NMT1,downstream_gene_variant,,ENST00000588455,;							MODERATE	1200/1491	F400L	NMT1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000258960		CCDS11494.1			1	
RPS6KB2	0	LGGM	GRCh37	11	67200291	67200291	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	58	5	.	.	ENST00000312629.5:c.599T>A	p.Ile200Asn	p.I200N	ENST00000312629	NM_003952.2	200	aTc/aAc	0	1	1	UPI00001FAD74	0	getma.org/pdb.php?prot=KS6B2_HUMAN&from=67&to=328&var=I200N	ENST00000312629		ENSG00000175634	10437		63	4.09		HGNC	p.I200N		RPS6KB2		SNV							ENST00000312629	protein_coding	getma.org/?cm=var&var=hg19,11,67200291,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF39,hmmpanther:PTHR24351,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/N		A	high	644/1726		getma.org/?cm=msa&ty=f&p=KS6B2_HUMAN&rb=67&re=328&var=I200N	deleterious(0)				YES	RPS6KB2,missense_variant,p.Ile200Asn,ENST00000312629,NM_003952.2;RPS6KB2,3_prime_UTR_variant,,ENST00000539188,;PTPRCAP,downstream_gene_variant,,ENST00000326294,NM_005608.2;RPS6KB2,downstream_gene_variant,,ENST00000524934,;AP003419.16,intron_variant,,ENST00000535922,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000524814,;RPS6KB2,3_prime_UTR_variant,,ENST00000528964,;RPS6KB2,3_prime_UTR_variant,,ENST00000556575,;RPS6KB2,3_prime_UTR_variant,,ENST00000420069,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000525088,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000526268,;RPS6KB2,intron_variant,,ENST00000525996,;RPS6KB2,upstream_gene_variant,,ENST00000531765,;RPS6KB2,downstream_gene_variant,,ENST00000530623,;RPS6KB2,downstream_gene_variant,,ENST00000525726,;							MODERATE	599/1449	I200N	KS6B2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000308413		CCDS41677.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64589673	64589673	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	48	6	.	.	ENST00000498707.1:c.3672C>A	p.Thr1224=	p.T1224=	ENST00000498707	NM_182920.1	1224	acC/acA	0	1	1	UPI00000463F0	0		ENST00000498707		ENSG00000163638	13202		54			HGNC	p.T1196T		ADAMTS9		SNV							ENST00000295903	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		T		T		4015/7464				B4E0E4_HUMAN			YES	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,synonymous_variant,p.=,ENST00000481060,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000482490,;							LOW	3672/5808		ATS9_HUMAN			Transcript			.	ENSP00000418735		CCDS2903.1			1	
NUP188	0	LGGM	GRCh37	9	131748924	131748924	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	48	6	.	.	ENST00000372577.2:c.2164C>T	p.Arg722Cys	p.R722C	ENST00000372577	NM_015354.2	722	Cgc/Tgc	0	1	1	UPI000041A60F	0	NA	ENST00000372577		ENSG00000095319	17859		54	0.975		HGNC	p.R722C		NUP188		SNV							ENST00000372577	protein_coding	getma.org/?cm=var&var=hg19,9,131748924,C,T&fts=all		hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Pfam_domain:PF10487		R/C		T	low	2185/5689		getma.org/?cm=msa&ty=f&p=NU188_HUMAN&rb=27&re=944&var=R722C	deleterious(0)				YES	NUP188,missense_variant,p.Arg722Cys,ENST00000372577,NM_015354.2;NUP188,non_coding_transcript_exon_variant,,ENST00000491502,;NUP188,downstream_gene_variant,,ENST00000465344,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;							MODERATE	2164/5250	R722C	NU188_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361658		CCDS35156.1			1	
TNIP3	0	LGGM	GRCh37	4	122068228	122068228	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	46	6	.	.	ENST00000509841.1:c.942C>A	p.Ser314=	p.S314=	ENST00000509841	NM_001244764.1	314	tcC/tcA	0	1		UPI000013C569	0		ENST00000057513		ENSG00000050730	19315		52			HGNC	p.S237S		TNIP3		SNV							ENST00000454328	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF2,Gene3D:1.20.5.990		S		T		926/2416								TNIP3,synonymous_variant,p.=,ENST00000454328,;TNIP3,synonymous_variant,p.=,ENST00000057513,NM_024873.5;TNIP3,synonymous_variant,p.=,ENST00000507879,NM_001128843.2;TNIP3,synonymous_variant,p.=,ENST00000509841,NM_001244764.1;TNIP3,non_coding_transcript_exon_variant,,ENST00000511909,;TNIP3,non_coding_transcript_exon_variant,,ENST00000515605,;							LOW	711/978		TNIP3_HUMAN			Transcript			.	ENSP00000057513		CCDS3718.1			1	
LGR5	0	LGGM	GRCh37	12	71918202	71918202	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	29	6	.	.	ENST00000266674.5:c.301G>A	p.Ala101Thr	p.A101T	ENST00000266674	NM_001277226.1	101	Gct/Act	0	1	1	UPI000004B65C	0	getma.org/pdb.php?prot=LGR5_HUMAN&from=90&to=150&var=A101T	ENST00000266674		ENSG00000139292	4504		35	1.545		HGNC	p.A101T	rs531998322	LGR5	6.06E-05	SNV							ENST00000266674	protein_coding	getma.org/?cm=var&var=hg19,12,71918202,G,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,SMART_domains:SM00369,Superfamily_domains:SSF52058		A/T		A	low	612/4611		getma.org/?cm=msa&ty=f&p=LGR5_HUMAN&rb=90&re=150&var=A101T	tolerated(0.3)				YES	LGR5,missense_variant,p.Ala101Thr,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,missense_variant,p.Ala101Thr,ENST00000540815,;LGR5,missense_variant,p.Ala101Thr,ENST00000536515,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;	0.000116						MODERATE	301/2724	A101T	LGR5_HUMAN	0.000152		Transcript		benign(0.105)	.	ENSP00000266674	2.47E-05	CCDS9000.1			1	
GTF3C2	0	LGGM	GRCh37	2	27566327	27566327	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	126	6	.	.	ENST00000359541.2:c.95A>G	p.Asn32Ser	p.N32S	ENST00000359541		32	aAt/aGt	0	1		UPI0000074025	0	NA	ENST00000264720		ENSG00000115207	4665		132	0.55		HGNC	p.N32S		GTF3C2		SNV							ENST00000359541	protein_coding	getma.org/?cm=var&var=hg19,2,27566327,T,C&fts=all		hmmpanther:PTHR15052,hmmpanther:PTHR15052:SF2		N/S		C	neutral	382/3842		getma.org/?cm=msa&ty=f&p=TF3C2_HUMAN&rb=1&re=200&var=N32S	tolerated_low_confidence(0.34)	Q53SY8_HUMAN,Q53QN0_HUMAN,C9JQ12_HUMAN,C9JNH7_HUMAN				GTF3C2,missense_variant,p.Asn32Ser,ENST00000359541,;GTF3C2,missense_variant,p.Asn32Ser,ENST00000264720,NM_001035521.2,NM_001521.3;GTF3C2,missense_variant,p.Asn32Ser,ENST00000423998,;GTF3C2,missense_variant,p.Asn32Ser,ENST00000457748,;AC109828.1,downstream_gene_variant,,ENST00000590383,;AC109828.1,downstream_gene_variant,,ENST00000588707,;AC109828.1,downstream_gene_variant,,ENST00000589853,;AC109828.1,downstream_gene_variant,,ENST00000587586,;AC109828.1,downstream_gene_variant,,ENST00000589232,;							MODERATE	95/2736	N32S	TF3C2_HUMAN			Transcript		benign(0)	.	ENSP00000264720		CCDS1749.1			1	
SPATA6	0	LGGM	GRCh37	1	48918796	48918796	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	32	6	.	.	ENST00000371847.3:c.59G>A	p.Cys20Tyr	p.C20Y	ENST00000371847	NM_019073.2	20	tGc/tAc	0	1	1	UPI0000049C41	0	NA	ENST00000371847		ENSG00000132122	18309		38	2.07		HGNC	p.C20Y		SPATA6		SNV							ENST00000371843	protein_coding	getma.org/?cm=var&var=hg19,1,48918796,C,T&fts=all		hmmpanther:PTHR16435:SF3,hmmpanther:PTHR16435,Pfam_domain:PF14909		C/Y		T	medium	224/4973		getma.org/?cm=msa&ty=f&p=SPAT6_HUMAN&rb=1&re=486&var=C20Y	deleterious(0)				YES	SPATA6,missense_variant,p.Cys20Tyr,ENST00000371847,NM_019073.2,NM_001286239.1;SPATA6,missense_variant,p.Cys20Tyr,ENST00000371843,NM_001286238.1;SPATA6,5_prime_UTR_variant,,ENST00000396199,;SPATA6,non_coding_transcript_exon_variant,,ENST00000463938,;SPATA6,non_coding_transcript_exon_variant,,ENST00000471975,;SPATA6,upstream_gene_variant,,ENST00000465990,;SPATA6,missense_variant,p.Cys20Tyr,ENST00000487543,;							MODERATE	59/1467	C20Y	SPAT6_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000360913		CCDS551.1			1	
HEATR4	0	LGGM	GRCh37	14	73973260	73973260	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	69	6	.	.	ENST00000553558.1:c.1897A>G	p.Met633Val	p.M633V	ENST00000553558	NM_001220484.1	633	Atg/Gtg	0	1		UPI00001FD7FD	0	NA	ENST00000334988		ENSG00000187105	16761		75	1.355		HGNC	p.M633V	rs760529326	HEATR4		SNV							ENST00000553558	protein_coding	getma.org/?cm=var&var=hg19,14,73973260,T,C&fts=all		hmmpanther:PTHR12697,hmmpanther:PTHR12697:SF14,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		M/V		C	low	2166/3469	1.51E-05	getma.org/?cm=msa&ty=f&p=HEAT4_HUMAN&rb=513&re=712&var=M633V	deleterious(0.01)	H3BSP2_HUMAN,G3V5L2_HUMAN,G3V3Q5_HUMAN				HEATR4,missense_variant,p.Met633Val,ENST00000553558,NM_001220484.1;HEATR4,missense_variant,p.Met633Val,ENST00000334988,NM_203309.2;HEATR4,missense_variant,p.Met586Val,ENST00000560393,;							MODERATE	1897/3081	M633V	HEAT4_HUMAN			Transcript		possibly_damaging(0.625)	.	ENSP00000335447	8.24E-06	CCDS9815.2			1	
DND1	0	LGGM	GRCh37	5	140050914	140050914	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	39	6	.	.	ENST00000542735.1:c.1026T>C	p.Ser342=	p.S342=	ENST00000542735	NM_194249.2	342	tcT/tcC	0	1	1	UPI00000741C8	0		ENST00000542735		ENSG00000256453	23799		45			HGNC	p.S342S	rs754385447	DND1	6.15E-05	SNV							ENST00000542735	protein_coding					S		G		1070/1605							YES	DND1,synonymous_variant,p.=,ENST00000542735,NM_194249.2;WDR55,3_prime_UTR_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,;WDR55,non_coding_transcript_exon_variant,,ENST00000520764,;WDR55,3_prime_UTR_variant,,ENST00000504897,;WDR55,3_prime_UTR_variant,,ENST00000506393,;WDR55,non_coding_transcript_exon_variant,,ENST00000511232,;HARS,downstream_gene_variant,,ENST00000506579,;HARS,downstream_gene_variant,,ENST00000509087,;							LOW	1026/1062		DND1_HUMAN			Transcript			.	ENSP00000445366	8.36E-06	CCDS4236.1			1	
PRSS12	0	LGGM	GRCh37	4	119203355	119203355	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	29	6	.	.	ENST00000296498.3:c.2364A>C	p.Leu788Phe	p.L788F	ENST00000296498	NM_003619.3	788	ttA/ttC	0	1	1	UPI000013E34B	0	getma.org/pdb.php?prot=NETR_HUMAN&from=631&to=869&var=L788F	ENST00000296498		ENSG00000164099	9477		35	1.345		HGNC	p.L788F		PRSS12		SNV			1				ENST00000296498	protein_coding	getma.org/?cm=var&var=hg19,4,119203355,T,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR19331,hmmpanther:PTHR19331:SF19,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		L/F		G	low	2647/4809		getma.org/?cm=msa&ty=f&p=NETR_HUMAN&rb=631&re=869&var=L788F	deleterious(0.05)				YES	PRSS12,missense_variant,p.Leu788Phe,ENST00000296498,NM_003619.3;SNHG8,downstream_gene_variant,,ENST00000602414,;SNHG8,downstream_gene_variant,,ENST00000602573,;SNHG8,downstream_gene_variant,,ENST00000602819,;SNHG8,downstream_gene_variant,,ENST00000602520,;SNHG8,downstream_gene_variant,,ENST00000602483,;SNHG8,downstream_gene_variant,,ENST00000384096,NR_002963.1;PRSS12,downstream_gene_variant,,ENST00000510903,;							MODERATE	2364/2628	L788F	NETR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000296498		CCDS3709.1			1	
CDKL5	0	LGGM	GRCh37	X	18631284	18631284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	41	6	.	.	ENST00000379989.3:c.2165G>A	p.Arg722His	p.R722H	ENST00000379989	NM_001037343.1	722	cGt/cAt	0	1	1	UPI0000136103	0	NA	ENST00000379989		ENSG00000008086	11411		47	1.04		HGNC	p.R722H		CDKL5		SNV			1				ENST00000379989	protein_coding	getma.org/?cm=var&var=hg19,X,18631284,G,A&fts=all				R/H		A	low	2450/3459		getma.org/?cm=msa&ty=f&p=CDKL5_HUMAN&rb=361&re=765&var=R722H	deleterious_low_confidence(0)				YES	CDKL5,missense_variant,p.Arg722His,ENST00000379989,NM_001037343.1;CDKL5,missense_variant,p.Arg722His,ENST00000379996,NM_003159.2;CDKL5,non_coding_transcript_exon_variant,,ENST00000463994,;							MODERATE	2165/3093	R722H	CDKL5_HUMAN			Transcript		benign(0.072)	.	ENSP00000369325		CCDS14186.1			1	
RBM5	0	LGGM	GRCh37	3	50151664	50151664	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	25	7	.	.	ENST00000347869.3:c.1819G>A	p.Asp607Asn	p.D607N	ENST00000347869	NM_005778.3	607	Gat/Aat	0	1	1	UPI000013337C	0	NA	ENST00000347869		ENSG00000003756	9902		32	0.46		HGNC	p.D607N		RBM5		SNV							ENST00000347869	protein_coding	getma.org/?cm=var&var=hg19,3,50151664,G,A&fts=all		hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21		D/N		A	neutral	1994/3188		getma.org/?cm=msa&ty=f&p=RBM5_HUMAN&rb=509&re=708&var=D607N	tolerated(0.15)	C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN			YES	RBM5,missense_variant,p.Asp607Asn,ENST00000347869,NM_005778.3;RP11-493K19.3,downstream_gene_variant,,ENST00000437204,;RP11-493K19.3,downstream_gene_variant,,ENST00000425674,;RBM5,downstream_gene_variant,,ENST00000441812,;RBM5,downstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000475128,;RBM5,non_coding_transcript_exon_variant,,ENST00000475590,;RBM5,non_coding_transcript_exon_variant,,ENST00000492430,;RBM5,non_coding_transcript_exon_variant,,ENST00000493993,;RBM5,upstream_gene_variant,,ENST00000479275,;RBM5,upstream_gene_variant,,ENST00000464988,;RBM5,downstream_gene_variant,,ENST00000474818,;RBM5,downstream_gene_variant,,ENST00000489437,;RBM5,downstream_gene_variant,,ENST00000494360,;RBM5,upstream_gene_variant,,ENST00000461242,;							MODERATE	1819/2448	D607N	RBM5_HUMAN			Transcript		benign(0.06)	.	ENSP00000343054		CCDS2810.1			1	
ATXN7L3	0	LGGM	GRCh37	17	42273464	42273464	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	37	7	.	.	ENST00000454077.2:c.482G>C	p.Trp161Ser	p.W161S	ENST00000454077	NM_020218.1	161	tGg/tCg	0	1		UPI0000DA6BB8	0		ENST00000389384		ENSG00000087152	25416		44			HGNC	p.W161S		ATXN7L3		SNV							ENST00000454077	protein_coding							G		-/3811				K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EKG9_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN				ATXN7L3,missense_variant,p.Trp161Ser,ENST00000454077,NM_020218.1;ATXN7L3,5_prime_UTR_variant,,ENST00000590537,;ATXN7L3,intron_variant,,ENST00000389384,NM_001098833.1;ATXN7L3,intron_variant,,ENST00000587097,;ATXN7L3,upstream_gene_variant,,ENST00000591295,;TMUB2,downstream_gene_variant,,ENST00000319511,NM_177441.2;TMUB2,downstream_gene_variant,,ENST00000592825,;TMUB2,downstream_gene_variant,,ENST00000587989,;TMUB2,downstream_gene_variant,,ENST00000538716,NM_001076674.1;TMUB2,downstream_gene_variant,,ENST00000357984,NM_024107.2;TMUB2,downstream_gene_variant,,ENST00000589785,;TMUB2,downstream_gene_variant,,ENST00000589184,;TMUB2,downstream_gene_variant,,ENST00000587172,;TMUB2,downstream_gene_variant,,ENST00000446571,;TMUB2,downstream_gene_variant,,ENST00000590235,;TMUB2,downstream_gene_variant,,ENST00000587630,;ATXN7L3,downstream_gene_variant,,ENST00000589805,;ATXN7L3,downstream_gene_variant,,ENST00000590169,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,intron_variant,,ENST00000593073,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000589607,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000587022,;TMUB2,downstream_gene_variant,,ENST00000587326,;ATXN7L3,upstream_gene_variant,,ENST00000591807,;ATXN7L3,upstream_gene_variant,,ENST00000586688,;							MODIFIER	-/1044		AT7L3_HUMAN			Transcript			.	ENSP00000374035		CCDS42345.1			1	
HIST1H3B	0	LGGM	GRCh37	6	26032019	26032019	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	93	7	.	.	ENST00000244661.2:c.270G>T	p.Val90=	p.V90=	ENST00000244661	NM_003537.3	90	gtG/gtT	0	1	1	UPI00000003C7	0		ENST00000244661		ENSG00000124693	4776		100			HGNC	p.V90V		HIST1H3B		SNV							ENST00000244661	protein_coding			hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622		V		A		270/472							YES	HIST1H3B,synonymous_variant,p.=,ENST00000244661,NM_003537.3;HIST1H2AB,downstream_gene_variant,,ENST00000259791,NM_003513.2;HIST1H4B,upstream_gene_variant,,ENST00000377364,NM_003544.2;							LOW	270/411		H31_HUMAN			Transcript			.	ENSP00000244661		CCDS4573.1			1	
AKR1CL1	0	LGGM	GRCh37	10	5204864	5204864	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	127	8	.	.	ENST00000488756.1:c.213G>T	p.Lys71Asn	p.K71N	ENST00000488756		71	aaG/aaT	0	1	1	UPI0001B790F0	0		ENST00000488756		ENSG00000196326	23469		135			HGNC	p.K71N		AKR1CL1		SNV							ENST00000488756	protein_coding			Gene3D:3.20.20.100,Pfam_domain:PF00248,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF166,Superfamily_domains:SSF51430		K/N		A		242/485			deleterious(0)	C9J5T8_HUMAN			YES	AKR1CL1,missense_variant,p.Lys71Asn,ENST00000334314,;AKR1CL1,missense_variant,p.Lys71Asn,ENST00000488756,;AKR1CL1,upstream_gene_variant,,ENST00000473890,;AKR1CL1,non_coding_transcript_exon_variant,,ENST00000472691,;AKR1CL1,upstream_gene_variant,,ENST00000465430,;							MODERATE	213/456					Transcript		probably_damaging(0.997)	.	ENSP00000417935					1	
ZSCAN23	0	LGGM	GRCh37	6	28403909	28403909	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	98	8	.	.	ENST00000289788.4:c.135G>T	p.Glu45Asp	p.E45D	ENST00000289788	NM_001012455.1	45	gaG/gaT	0	1	1	UPI000019874A	0	getma.org/pdb.php?prot=ZSC23_HUMAN&from=42&to=137&var=E45D	ENST00000289788		ENSG00000187987	21193		106	2.89		HGNC	p.E45D		ZSCAN23		SNV							ENST00000481983	protein_coding	getma.org/?cm=var&var=hg19,6,28403909,C,A&fts=all		Superfamily_domains:SSF47353,SMART_domains:SM00431,Pfam_domain:PF02023,hmmpanther:PTHR23226:SF62,hmmpanther:PTHR23226		E/D		A	medium	281/3126		getma.org/?cm=msa&ty=f&p=ZSC23_HUMAN&rb=42&re=137&var=E45D	deleterious(0.03)				YES	ZSCAN23,missense_variant,p.Glu45Asp,ENST00000289788,NM_001012455.1;ZSCAN23,intron_variant,,ENST00000486481,;ZSCAN23,missense_variant,p.Glu45Asp,ENST00000481983,;							MODERATE	135/1170	E45D	ZSC23_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000289788		CCDS47393.1			1	
ITSN2	0	LGGM	GRCh37	2	24533456	24533456	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	52	8	.	.	ENST00000355123.4:c.458T>G	p.Met153Arg	p.M153R	ENST00000355123	NM_006277.2	153	aTg/aGg	0	1	1	UPI000013D415	0	NA	ENST00000355123		ENSG00000198399	6184		60	0.345		HGNC	p.M153R		ITSN2		SNV							ENST00000355123	protein_coding	getma.org/?cm=var&var=hg19,2,24533456,A,C&fts=all		hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF29,Low_complexity_(Seg):seg		M/R		C	neutral	902/6300		getma.org/?cm=msa&ty=f&p=ITSN2_HUMAN&rb=107&re=240&var=M153R	tolerated(0.36)	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN			YES	ITSN2,missense_variant,p.Met153Arg,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Met153Arg,ENST00000361999,NM_019595.3;ITSN2,missense_variant,p.Met153Arg,ENST00000406921,NM_147152.2;ITSN2,missense_variant,p.Met153Arg,ENST00000412011,;ITSN2,missense_variant,p.Met139Arg,ENST00000443927,;ITSN2,downstream_gene_variant,,ENST00000407704,;							MODERATE	458/5094	M153R	ITSN2_HUMAN			Transcript		benign(0.011)	.	ENSP00000347244		CCDS1710.2			1	
ZNF80	0	LGGM	GRCh37	3	113955865	113955865	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	24	8	.	.	ENST00000482457.2:c.57A>G	p.Leu19=	p.L19=	ENST00000482457	NM_007136.3	19	ttA/ttG	0	1		UPI000013ECC4	0		ENST00000308095		ENSG00000174255	13155		32			HGNC	p.L19L		ZNF80		SNV							ENST00000482457	nonsense_mediated_decay			hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF111		L		C		561/2555								ZNF80,synonymous_variant,p.=,ENST00000482457,NM_007136.3;RP11-553L6.2,downstream_gene_variant,,ENST00000493033,;RP11-553L6.2,downstream_gene_variant,,ENST00000481773,;ZNF80,synonymous_variant,p.=,ENST00000308095,;RP11-553L6.3,upstream_gene_variant,,ENST00000473625,;							LOW	57/822		ZNF80_HUMAN			Transcript			.	ENSP00000309812		CCDS2979.1			1	
GRIA4	0	LGGM	GRCh37	11	105795146	105795146	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	82	8	.	.	ENST00000282499.5:c.1498C>A	p.Pro500Thr	p.P500T	ENST00000282499	NM_000829.3	500	Cct/Act	0	1	1	UPI000013DCE6	0	getma.org/pdb.php?prot=GRIA4_HUMAN&from=492&to=543&var=P500T	ENST00000282499		ENSG00000152578	4574		90	1.38		HGNC	p.P500T	COSM343924,COSM343925	GRIA4		SNV						1,1	ENST00000525187	protein_coding	getma.org/?cm=var&var=hg19,11,105795146,C,A&fts=all		hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:3.40.190.10,SMART_domains:SM00079,Superfamily_domains:SSF53850		P/T		A	low	1944/5508		getma.org/?cm=msa&ty=f&p=GRIA4_HUMAN&rb=492&re=543&var=P500T	deleterious(0.01)	E9PJZ5_HUMAN			YES	GRIA4,missense_variant,p.Pro500Thr,ENST00000393127,NM_001077243.2;GRIA4,missense_variant,p.Pro500Thr,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Pro500Thr,ENST00000530497,;GRIA4,missense_variant,p.Pro500Thr,ENST00000525187,;					1,1		MODERATE	1498/2709	P500T	GRIA4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000282499		CCDS8333.1			1	
ZRSR2	0	LGGM	GRCh37	X	15841105	15841105	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	17	8	.	.	ENST00000307771.7:c.1189A>T	p.Arg397Trp	p.R397W	ENST00000307771	NM_005089.3	397	Agg/Tgg	0	1	1	UPI0000137929	0	NA	ENST00000307771		ENSG00000169249	23019		25	1.935		HGNC	p.R397W		ZRSR2		SNV							ENST00000307771	protein_coding	getma.org/?cm=var&var=hg19,X,15841105,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12620:SF6,hmmpanther:PTHR12620		R/W		T	medium	1213/1491		getma.org/?cm=msa&ty=f&p=U2AFM_HUMAN&rb=393&re=480&var=R397W	deleterious(0)				YES	ZRSR2,missense_variant,p.Arg397Trp,ENST00000307771,NM_005089.3;AP1S2,downstream_gene_variant,,ENST00000329235,NM_003916.4,NM_001272071.1;AP1S2,downstream_gene_variant,,ENST00000452376,;							MODERATE	1189/1449	R397W	U2AFM_HUMAN			Transcript		unknown(0)	.	ENSP00000303015		CCDS14172.1			1	
ENPP5	0	LGGM	GRCh37	6	46133240	46133240	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	106	8	.	.	ENST00000371383.2:c.890A>G	p.Lys297Arg	p.K297R	ENST00000371383		297	aAa/aGa	0	1		UPI0000072511	0	getma.org/pdb.php?prot=ENPP5_HUMAN&from=30&to=342&var=K297R	ENST00000230565		ENSG00000112796	13717		114	1.38		HGNC	p.K297R		ENPP5		SNV							ENST00000371383	protein_coding	getma.org/?cm=var&var=hg19,6,46133240,T,C&fts=all		hmmpanther:PTHR10151:SF17,hmmpanther:PTHR10151,Gene3D:3.40.720.10,Pfam_domain:PF01663,Superfamily_domains:SSF53649		K/R		C	low	1089/2544		getma.org/?cm=msa&ty=f&p=ENPP5_HUMAN&rb=30&re=342&var=K297R	tolerated(0.48)					ENPP5,missense_variant,p.Lys297Arg,ENST00000371383,;ENPP5,missense_variant,p.Lys297Arg,ENST00000230565,NM_021572.4;ENPP5,non_coding_transcript_exon_variant,,ENST00000492313,;							MODERATE	890/1434	K297R	ENPP5_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000230565		CCDS4915.1			1	
LRRC31	0	LGGM	GRCh37	3	169557902	169557902	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	62	8	.	.	ENST00000316428.5:c.1527G>C	p.Val509=	p.V509=	ENST00000316428	NM_024727.3	509	gtG/gtC	0	1	1	UPI00001D690F	0		ENST00000316428		ENSG00000114248	26261		70			HGNC	p.V509V		LRRC31		SNV							ENST00000316428	protein_coding			hmmpanther:PTHR24109,Gene3D:3.80.10.10		V		G		1585/2520							YES	LRRC31,synonymous_variant,p.=,ENST00000316428,NM_024727.3,NM_001277127.1;LRRC31,synonymous_variant,p.=,ENST00000264676,NM_001277128.1;LRRC31,3_prime_UTR_variant,,ENST00000523069,;LRRIQ4,downstream_gene_variant,,ENST00000340806,NM_001080460.1;							LOW	1527/1659		LRC31_HUMAN			Transcript			.	ENSP00000325978		CCDS43167.1			1	
ABCA9	0	LGGM	GRCh37	17	66988334	66988334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	13	8	.	.	ENST00000340001.4:c.3698G>T	p.Arg1233Ile	p.R1233I	ENST00000340001	NM_080283.3	1233	aGa/aTa	0	1	1	UPI00000747B1	0	NA	ENST00000340001		ENSG00000154258	39		21	2.89		HGNC	p.R1233I		ABCA9		SNV							ENST00000340001	protein_coding	getma.org/?cm=var&var=hg19,17,66988334,C,A&fts=all		hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229		R/I		A	medium	3910/6514		getma.org/?cm=msa&ty=f&p=ABCA9_HUMAN&rb=1221&re=1332&var=R1233I	deleterious(0)	K7EJJ0_HUMAN			YES	ABCA9,missense_variant,p.Arg1233Ile,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Arg1233Ile,ENST00000370732,;ABCA9,missense_variant,p.Arg1195Ile,ENST00000453985,;ABCA9,upstream_gene_variant,,ENST00000482072,;ABCA9,non_coding_transcript_exon_variant,,ENST00000460872,;							MODERATE	3698/4875	R1233I	ABCA9_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000342216		CCDS11681.1			1	
SEMA6D	0	LGGM	GRCh37	15	48056850	48056850	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	29	8	.	.	ENST00000316364.5:c.1113A>G	p.Ala371=	p.A371=	ENST00000316364	NM_153618.1	371	gcA/gcG	0	1	1	UPI000006E201	0		ENST00000316364		ENSG00000137872	16770		37			HGNC	p.A371A		SEMA6D		SNV							ENST00000355997	protein_coding			Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004		A		G		1552/6099				Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN			YES	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,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,;							LOW	1113/3222		SEM6D_HUMAN			Transcript			.	ENSP00000324857		CCDS32225.1			1	
NPAS4	0	LGGM	GRCh37	11	66191309	66191309	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	45	8	.	.	ENST00000311034.2:c.948C>T	p.Asp316=	p.D316=	ENST00000311034	NM_178864.3	316	gaC/gaT	0	1	1	UPI0000074744	0		ENST00000311034		ENSG00000174576	18983		53			HGNC	p.D316D		NPAS4		SNV							ENST00000311034	protein_coding			hmmpanther:PTHR23043:SF13,hmmpanther:PTHR23043		D		T		1124/3303							YES	NPAS4,synonymous_variant,p.=,ENST00000311034,NM_178864.3;NPAS4,3_prime_UTR_variant,,ENST00000525148,;NPAS4,non_coding_transcript_exon_variant,,ENST00000524617,;							LOW	948/2409		NPAS4_HUMAN			Transcript			.	ENSP00000311196		CCDS8138.1			1	
PTCHD4	0	LGGM	GRCh37	6	48036093	48036093	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	65	9	.	.	ENST00000339488.4:c.299A>T	p.Gln100Leu	p.Q100L	ENST00000339488	NM_001013732.3	100	cAg/cTg	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		74	1.04		HGNC	p.Q100L		PTCHD4		SNV							ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,48036093,T,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15		Q/L		A	low	333/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=1&re=200&var=Q100L	tolerated(0.33)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Gln100Leu,ENST00000398738,NM_207499.2;PTCHD4,missense_variant,p.Gln83Leu,ENST00000543600,;PTCHD4,missense_variant,p.Gln100Leu,ENST00000339488,NM_001013732.3;							MODERATE	299/2541	Q100L	PTHD4_HUMAN			Transcript		benign(0.054)	.	ENSP00000341914		CCDS34473.2			1	
OR2L8	0	LGGM	GRCh37	1	248112663	248112663	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	138	9	.	.	ENST00000357191.3:c.504C>T	p.Cys168=	p.C168=	ENST00000357191	NM_001001963.1	168	tgC/tgT	0	1	1	UPI0000061E5D	0		ENST00000357191		ENSG00000196936	15014		147			HGNC	p.C168C		OR2L8		SNV							ENST00000357191	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		C		T		504/939							YES	OR2L8,synonymous_variant,p.=,ENST00000357191,NM_001001963.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							LOW	504/939		OR2L8_HUMAN			Transcript			.	ENSP00000349719		CCDS31101.1			1	
OAZ3	0	LGGM	GRCh37	1	151735614	151735614	+	start_lost	Translation_Start_Site	SNP	G	G	C	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	29	9	.	.	ENST00000321531.5:c.3G>C	p.Met1?	p.M1?	ENST00000321531		1	atG/atC	0	1		UPI000155D4A7	0		ENST00000400999		ENSG00000143450	8097		38		3517	HGNC	p.M1I		OAZ3		SNV							ENST00000315067	protein_coding							C		-/886				Q5SZR7_HUMAN				OAZ3,start_lost,p.Met1?,ENST00000315067,NM_001134939.1;OAZ3,start_lost,p.Met1?,ENST00000321531,;MRPL9,synonymous_variant,p.=,ENST00000368830,NM_031420.2;MRPL9,synonymous_variant,p.=,ENST00000368829,;OAZ3,upstream_gene_variant,,ENST00000479764,;OAZ3,upstream_gene_variant,,ENST00000400999,NM_016178.2;OAZ3,upstream_gene_variant,,ENST00000453029,;RP11-98D18.15,downstream_gene_variant,,ENST00000601684,;RP11-98D18.16,downstream_gene_variant,,ENST00000596133,;RP11-98D18.2,upstream_gene_variant,,ENST00000420382,;RP11-98D18.3,downstream_gene_variant,,ENST00000512280,;MRPL9,non_coding_transcript_exon_variant,,ENST00000467306,;MRPL9,non_coding_transcript_exon_variant,,ENST00000462783,;MRPL9,non_coding_transcript_exon_variant,,ENST00000478926,;MRPL9,non_coding_transcript_exon_variant,,ENST00000486707,;MRPL9,non_coding_transcript_exon_variant,,ENST00000481777,;MRPL9,non_coding_transcript_exon_variant,,ENST00000461182,;OAZ3,upstream_gene_variant,,ENST00000577465,;MRPL9,upstream_gene_variant,,ENST00000468006,;MRPL9,upstream_gene_variant,,ENST00000495867,;MRPL9,upstream_gene_variant,,ENST00000492684,;RP11-98D18.7,downstream_gene_variant,,ENST00000446084,;							MODIFIER	-/201					Transcript			.	ENSP00000383784					1	
HTR5A	0	LGGM	GRCh37	7	154862910	154862910	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	13	9	.	.	ENST00000287907.2:c.301G>A	p.Glu101Lys	p.E101K	ENST00000287907	NM_024012.3	101	Gag/Aag	0	1	1	UPI000004477E	0	getma.org/pdb.php?prot=5HT5A_HUMAN&from=57&to=338&var=E101K	ENST00000287907		ENSG00000157219	5300		22	3.135		HGNC	p.S35L	rs769762819	HTR5A		SNV							ENST00000543018	protein_coding	getma.org/?cm=var&var=hg19,7,154862910,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14,Superfamily_domains:SSF81321		E/K		A	medium	877/2912	1.52E-05	getma.org/?cm=msa&ty=f&p=5HT5A_HUMAN&rb=57&re=338&var=E101K	deleterious(0)	Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN			YES	HTR5A,missense_variant,p.Glu101Lys,ENST00000287907,NM_024012.3;HTR5A-AS1,missense_variant,p.Ser35Leu,ENST00000395731,;HTR5A-AS1,missense_variant,p.Ser35Leu,ENST00000543018,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;							MODERATE	301/1074	E101K	5HT5A_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000287907	8.25E-06	CCDS5936.1			1	
SI	0	LGGM	GRCh37	3	164733808	164733808	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	109	9	.	.	ENST00000264382.3:c.3820G>C	p.Ala1274Pro	p.A1274P	ENST00000264382	NM_001041.3	1274	Gca/Cca	0	1	1	UPI000022C287	0	getma.org/pdb.php?prot=SUIS_HUMAN&from=1195&to=1691&var=A1274P	ENST00000264382		ENSG00000090402	10856		118	1.3		HGNC	p.A1274P		SI		SNV			1				ENST00000264382	protein_coding	getma.org/?cm=var&var=hg19,3,164733808,C,G&fts=all		Superfamily_domains:SSF51445,Pfam_domain:PF01055		A/P		G	low	3883/6011		getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=1195&re=1691&var=A1274P	tolerated(0.18)				YES	SI,missense_variant,p.Ala1274Pro,ENST00000264382,NM_001041.3;							MODERATE	3820/5484	A1274P	SUIS_HUMAN			Transcript		benign(0.433)	.	ENSP00000264382		CCDS3196.1			1	
STX19	0	LGGM	GRCh37	3	93733328	93733328	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	24	9	.	.	ENST00000315099.2:c.786C>T	p.Asn262=	p.N262=	ENST00000315099	NM_001001850.2	262	aaC/aaT	0	1	1	UPI00000471EA	0		ENST00000315099		ENSG00000178750	19300		33			HGNC	p.N262N		STX19		SNV							ENST00000315099	protein_coding			PROSITE_profiles:PS50192,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF29,Gene3D:1.20.5.110,Pfam_domain:PF05739,SMART_domains:SM00397,Superfamily_domains:SSF47661		N		A		1043/1158							YES	STX19,synonymous_variant,p.=,ENST00000315099,NM_001001850.2;ARL13B,intron_variant,,ENST00000535334,NM_001174151.1;ARL13B,intron_variant,,ENST00000303097,NM_144996.3;ARL13B,intron_variant,,ENST00000394222,NM_001174150.1;ARL13B,intron_variant,,ENST00000471138,NM_182896.2;ARL13B,intron_variant,,ENST00000539730,;ARL13B,intron_variant,,ENST00000486562,;ARL13B,intron_variant,,ENST00000335438,;ARL13B,intron_variant,,ENST00000460371,;							LOW	786/885		STX19_HUMAN			Transcript			.	ENSP00000320679		CCDS33793.1			1	
PDZK1	0	LGGM	GRCh37	1	145748546	145748546	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	109	9	.	.	ENST00000344770.2:c.419A>C	p.Lys140Thr	p.K140T	ENST00000344770	NM_002614.4	140	aAg/aCg	0	1	1	UPI000006D202	0	getma.org/pdb.php?prot=PDZ1P_HUMAN&from=15&to=90&var=K18T	ENST00000344770		ENSG00000174827	8821		118	3.245		HGNC	p.K140T		PDZK1		SNV							ENST00000417171	protein_coding	getma.org/?cm=var&var=hg19,1,145748546,A,C&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR14191,hmmpanther:PTHR14191:SF6,Superfamily_domains:SSF50156		K/T		C	medium	492/2084		getma.org/?cm=msa&ty=f&p=PDZ1P_HUMAN&rb=15&re=90&var=K18T	deleterious(0)				YES	PDZK1,missense_variant,p.Lys140Thr,ENST00000344770,NM_002614.4;PDZK1,missense_variant,p.Lys140Thr,ENST00000417171,NM_001201325.1;PDZK1,missense_variant,p.Lys140Thr,ENST00000451928,NM_001201326.1;PDZK1,missense_variant,p.Lys140Thr,ENST00000443667,;							MODERATE	419/1560	K18T	NHRF3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000342143		CCDS924.1			1	
DMD	0	LGGM	GRCh37	X	32834724	32834724	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	39	9	.	.	ENST00000357033.4:c.391T>A	p.Leu131Met	p.L131M	ENST00000357033	NM_004007.2	131	Ttg/Atg	0	1	1	UPI000049E111	0	getma.org/pdb.php?prot=DMD_HUMAN&from=1&to=240&var=L131M	ENST00000357033		ENSG00000198947	2928		48	1.92		HGNC	p.L123M		DMD		SNV			1				ENST00000288447	protein_coding	getma.org/?cm=var&var=hg19,X,32834724,A,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47576		L/M		T	medium	598/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1&re=240&var=L131M		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			YES	DMD,missense_variant,p.Leu131Met,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Leu127Met,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Leu123Met,ENST00000288447,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;DMD,upstream_gene_variant,,ENST00000480751,;							MODERATE	391/11058	L131M				Transcript		probably_damaging(0.923)	.	ENSP00000354923		CCDS14233.1			1	
BNC1	0	LGGM	GRCh37	15	83933322	83933322	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	53	10	.	.	ENST00000345382.2:c.681C>T	p.Pro227=	p.P227=	ENST00000345382	NM_001717.3	227	ccC/ccT	0	1	1	UPI0000126796	0		ENST00000345382		ENSG00000169594	1081		63			HGNC	p.P220P		BNC1		SNV							ENST00000569704	protein_coding			hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1		P		A		767/4610							YES	BNC1,synonymous_variant,p.=,ENST00000345382,NM_001717.3;BNC1,synonymous_variant,p.=,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;							LOW	681/2985		BNC1_HUMAN			Transcript			.	ENSP00000307041		CCDS10324.1			1	
KANSL1L	0	LGGM	GRCh37	2	211018615	211018615	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	60	10	.	.	ENST00000281772.9:c.692A>T	p.Gln231Leu	p.Q231L	ENST00000281772	NM_152519.2	231	cAg/cTg	0	1	1	UPI00002094A9	0	NA	ENST00000281772		ENSG00000144445	26310		70	2.125		HGNC	p.Q231L		KANSL1L		SNV							ENST00000281772	protein_coding	getma.org/?cm=var&var=hg19,2,211018615,T,A&fts=all		hmmpanther:PTHR22443,hmmpanther:PTHR22443:SF16		Q/L		A	medium	956/4754		getma.org/?cm=msa&ty=f&p=KAL1L_HUMAN&rb=201&re=400&var=Q231L	deleterious(0)				YES	KANSL1L,missense_variant,p.Gln231Leu,ENST00000281772,NM_152519.2;KANSL1L,missense_variant,p.Gln231Leu,ENST00000418791,;KANSL1L,missense_variant,p.Gln231Leu,ENST00000452086,;KANSL1L,missense_variant,p.Gln231Leu,ENST00000457374,;KANSL1L,upstream_gene_variant,,ENST00000428655,;KANSL1L,upstream_gene_variant,,ENST00000438563,;KANSL1L,upstream_gene_variant,,ENST00000415553,;KANSL1L,downstream_gene_variant,,ENST00000429908,;KANSL1L,non_coding_transcript_exon_variant,,ENST00000453904,;							MODERATE	692/2964	Q231L	KAL1L_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000281772		CCDS33370.1			1	
PTCD3	0	LGGM	GRCh37	2	86352636	86352636	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	48	10	.	.	ENST00000254630.7:c.863A>T	p.His288Leu	p.H288L	ENST00000254630	NM_017952.5	288	cAt/cTt	0	1	1	UPI0000208870	0	NA	ENST00000254630		ENSG00000132300	24717		58	-0.33		HGNC	p.H288L		PTCD3		SNV							ENST00000254630	protein_coding	getma.org/?cm=var&var=hg19,2,86352636,A,T&fts=all		Pfam_domain:PF13041,PROSITE_profiles:PS51375,hmmpanther:PTHR16276,hmmpanther:PTHR16276:SF0		H/L		T	neutral	929/6734		getma.org/?cm=msa&ty=f&p=PTCD3_HUMAN&rb=243&re=303&var=H288L	tolerated(0.07)				YES	PTCD3,missense_variant,p.His288Leu,ENST00000254630,NM_017952.5;PTCD3,splice_region_variant,,ENST00000409277,;PTCD3,downstream_gene_variant,,ENST00000409783,;PTCD3,downstream_gene_variant,,ENST00000465560,;PTCD3,splice_region_variant,,ENST00000484203,;PTCD3,splice_region_variant,,ENST00000480102,;PTCD3,upstream_gene_variant,,ENST00000487043,;PTCD3,upstream_gene_variant,,ENST00000464541,;PTCD3,upstream_gene_variant,,ENST00000469585,;PTCD3,upstream_gene_variant,,ENST00000476215,;							MODERATE	863/2070	H288L	PTCD3_HUMAN			Transcript		benign(0.003)	.	ENSP00000254630		CCDS33235.1			1	
STXBP5L	0	LGGM	GRCh37	3	120969574	120969574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	21	11	.	.	ENST00000273666.6:c.1405G>T	p.Ala469Ser	p.A469S	ENST00000273666	NM_014980.2	469	Gca/Tca	0	1	1	UPI00001C1DEA	0	NA	ENST00000273666		ENSG00000145087	30757		32	1.54		HGNC	p.A469S		STXBP5L		SNV							ENST00000472879	protein_coding	getma.org/?cm=var&var=hg19,3,120969574,G,T&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978,Prints_domain:PR00962		A/S		T	low	1676/9496		getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=403&re=477&var=A469S	tolerated(0.09)	C9JUZ7_HUMAN			YES	STXBP5L,missense_variant,p.Ala469Ser,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Ala469Ser,ENST00000471454,;STXBP5L,missense_variant,p.Ala469Ser,ENST00000471262,;STXBP5L,missense_variant,p.Ala469Ser,ENST00000492541,;STXBP5L,missense_variant,p.Ala469Ser,ENST00000472879,;STXBP5L,missense_variant,p.Ala469Ser,ENST00000497029,;							MODERATE	1405/3561	A469S	STB5L_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000273666		CCDS43137.1			1	
WNK3	0	LGGM	GRCh37	X	54278060	54278060	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	5	11	.	.	ENST00000354646.2:c.2428A>G	p.Ile810Val	p.I810V	ENST00000354646	NM_020922.4	810	Att/Gtt	0	1	1	UPI00001AF003	0	NA	ENST00000354646		ENSG00000196632	14543		16	0.55		HGNC	p.I810V		WNK3		SNV							ENST00000375159	protein_coding	getma.org/?cm=var&var=hg19,X,54278060,T,C&fts=all		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF47,Gene3D:3.10.20.90		I/V		C	neutral	2867/11341		getma.org/?cm=msa&ty=f&p=WNK3_HUMAN&rb=798&re=829&var=I810V	tolerated(0.22)	B1AQN8_HUMAN			YES	WNK3,missense_variant,p.Ile810Val,ENST00000354646,NM_020922.4;WNK3,missense_variant,p.Ile810Val,ENST00000375169,NM_001002838.3;WNK3,missense_variant,p.Ile810Val,ENST00000375159,;							MODERATE	2428/5403	I810V	WNK3_HUMAN			Transcript		benign(0.012)	.	ENSP00000346667		CCDS14357.1			1	
STXBP5L	0	LGGM	GRCh37	3	120969575	120969575	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	22	11	.	.	ENST00000273666.6:c.1406C>T	p.Ala469Val	p.A469V	ENST00000273666	NM_014980.2	469	gCa/gTa	0	1	1	UPI00001C1DEA	0	NA	ENST00000273666		ENSG00000145087	30757		33	1.74		HGNC	p.A469V		STXBP5L		SNV							ENST00000472879	protein_coding	getma.org/?cm=var&var=hg19,3,120969575,C,T&fts=all		hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF19,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978,Prints_domain:PR00962		A/V		T	low	1677/9496		getma.org/?cm=msa&ty=f&p=STB5L_HUMAN&rb=403&re=477&var=A469V	deleterious(0.02)	C9JUZ7_HUMAN			YES	STXBP5L,missense_variant,p.Ala469Val,ENST00000273666,NM_014980.2;STXBP5L,missense_variant,p.Ala469Val,ENST00000471454,;STXBP5L,missense_variant,p.Ala469Val,ENST00000471262,;STXBP5L,missense_variant,p.Ala469Val,ENST00000492541,;STXBP5L,missense_variant,p.Ala469Val,ENST00000472879,;STXBP5L,missense_variant,p.Ala469Val,ENST00000497029,;							MODERATE	1406/3561	A469V	STB5L_HUMAN			Transcript		possibly_damaging(0.74)	.	ENSP00000273666		CCDS43137.1			1	
RLN2	0	LGGM	GRCh37	9	5304574	5304574	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	29	11	.	.	ENST00000381627.3:c.7C>T	p.Arg3Cys	p.R3C	ENST00000381627	NM_134441.2	3	Cgc/Tgc	0	1	1	UPI000002C1A0	0	NA	ENST00000381627		ENSG00000107014	10027		40	1.5		HGNC	p.R3C	rs755812035	RLN2		SNV							ENST00000308420	protein_coding	getma.org/?cm=var&var=hg19,9,5304574,G,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR12004,hmmpanther:PTHR12004:SF5		R/C		A	low	396/1177	1.51E-05	getma.org/?cm=msa&ty=f&p=REL2_HUMAN&rb=1&re=31&var=R3C	deleterious(0)				YES	RLN2,missense_variant,p.Arg3Cys,ENST00000381627,NM_134441.2;RLN2,missense_variant,p.Arg3Cys,ENST00000308420,NM_005059.3;RLN2,upstream_gene_variant,,ENST00000416837,;							MODERATE	7/558	R3C	REL2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000371040	8.24E-06	CCDS6460.1			1	
IGKV2D-24	0	LGGM	GRCh37	2	90044412	90044412	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	110	12	.	.	ENST00000462693.1:c.333T>C	p.Tyr111=	p.Y111=	ENST00000462693		111	taT/taC	0	1	1	UPI0000176EBA	0		ENST00000462693		ENSG00000241566	5797		122			HGNC	p.Y111Y		IGKV2D-24		SNV							ENST00000462693	IG_V_gene			Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF128,SMART_domains:SM00406,Superfamily_domains:SSF48726		Y		C		363/390							YES	IGKV2D-24,synonymous_variant,p.=,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;							LOW	333/360					Transcript			.	ENSP00000417136					1	
FBN2	0	LGGM	GRCh37	5	127597428	127597428	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	82	12	.	.	ENST00000508053.1:c.8364T>C	p.Ala2788=	p.A2788=	ENST00000508053		2788	gcT/gcC	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		94			HGNC	p.A2788A		FBN2		SNV			1				ENST00000262464	protein_coding			PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19		A		G		8803/10724								FBN2,splice_region_variant,p.=,ENST00000508053,;FBN2,splice_region_variant,p.=,ENST00000262464,NM_001999.3;							LOW	8364/8739		FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
ALPK2	0	LGGM	GRCh37	18	56203936	56203936	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	73	12	.	.	ENST00000361673.3:c.3483T>C	p.Ser1161=	p.S1161=	ENST00000361673	NM_052947.3	1161	tcT/tcC	0	1	1	UPI000022A768	0		ENST00000361673		ENSG00000198796	20565		85			HGNC	p.S1161S		ALPK2		SNV							ENST00000361673	protein_coding			hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6		S		G		3697/7303							YES	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,;							LOW	3483/6513		ALPK2_HUMAN			Transcript			.	ENSP00000354991		CCDS11966.2			1	
ZNF622	0	LGGM	GRCh37	5	16458653	16458653	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	11	12	.	.	ENST00000308683.2:c.1135G>T	p.Glu379Ter	p.E379*	ENST00000308683	NM_033414.2	379	Gaa/Taa	0	1	1	UPI0000072102	0	NA	ENST00000308683		ENSG00000173545	30958		23	0		HGNC	p.E379X		ZNF622		SNV							ENST00000308683	protein_coding	getma.org/?cm=var&var=hg19,5,16458653,C,A&fts=all		hmmpanther:PTHR13182		E/*		A	NA	1262/1699		NA					YES	ZNF622,stop_gained,p.Glu379Ter,ENST00000308683,NM_033414.2;							HIGH	1135/1434	E379*	ZN622_HUMAN			Transcript			.	ENSP00000310042		CCDS3886.1			1	
DNAH9	0	LGGM	GRCh37	17	11806201	11806201	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	31	12	.	.	ENST00000262442.4:c.11572C>G	p.Arg3858Gly	p.R3858G	ENST00000262442	NM_001372.3	3858	Cgg/Ggg	0	1	1	UPI0000141BA2	0	getma.org/pdb.php?prot=DYH9_HUMAN&from=3782&to=4485&var=R3858G	ENST00000262442		ENSG00000007174	2953		43	4.575		HGNC	p.R3858G		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11806201,C,G&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF03028		R/G		G	high	11640/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=3782&re=4485&var=R3858G		Q92865_HUMAN			YES	DNAH9,missense_variant,p.Arg3858Gly,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Arg3858Gly,ENST00000454412,;DNAH9,missense_variant,p.Arg170Gly,ENST00000608377,NM_004662.2;DNAH9,non_coding_transcript_exon_variant,,ENST00000396001,;DNAH9,non_coding_transcript_exon_variant,,ENST00000581682,;							MODERATE	11572/13461	R3858G	DYH9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262442		CCDS11160.1			1	
SULT6B1	0	LGGM	GRCh37	2	37415680	37415680	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	28	13	.	.	ENST00000260637.3:c.-11A>T		*4*	ENST00000260637	NM_001032377.1			0	1		UPI000004127E	0		ENST00000535679		ENSG00000138068	33433		41			HGNC	p.Y35F		SULT6B1		SNV							ENST00000535679	protein_coding			hmmpanther:PTHR11783:SF55,hmmpanther:PTHR11783,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		Y/F		A		104/1027			deleterious(0.05)					SULT6B1,missense_variant,p.Tyr35Phe,ENST00000535679,;SULT6B1,missense_variant,p.Tyr35Phe,ENST00000379149,;SULT6B1,5_prime_UTR_variant,,ENST00000260637,NM_001032377.1;SULT6B1,5_prime_UTR_variant,,ENST00000407963,;SULT6B1,5_prime_UTR_variant,,ENST00000416345,;SULT6B1,5_prime_UTR_variant,,ENST00000433192,;SULT6B1,5_prime_UTR_variant,,ENST00000420611,;							MODERATE	104/912		ST6B1_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000444081					1	
ERAL1	0	LGGM	GRCh37	17	27182308	27182308	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	23	13	.	.	ENST00000254928.5:c.256T>C	p.Cys86Arg	p.C86R	ENST00000254928	NM_005702.2	86	Tgc/Cgc	0	1	1	UPI000006DECC	0	NA	ENST00000254928		ENSG00000132591	3424		36	-0.41		HGNC	p.C86R		ERAL1		SNV							ENST00000412138	protein_coding	getma.org/?cm=var&var=hg19,17,27182308,T,C&fts=all		hmmpanther:PTHR11649,hmmpanther:PTHR11649:SF3		C/R		C	neutral	353/1925		getma.org/?cm=msa&ty=f&p=ERAL1_HUMAN&rb=1&re=114&var=C86R	tolerated(0.37)				YES	ERAL1,missense_variant,p.Cys86Arg,ENST00000254928,NM_005702.2;ERAL1,missense_variant,p.Cys83Arg,ENST00000580917,;FAM222B,upstream_gene_variant,,ENST00000577513,;ERAL1,upstream_gene_variant,,ENST00000583487,;FAM222B,upstream_gene_variant,,ENST00000583953,;ERAL1,non_coding_transcript_exon_variant,,ENST00000578001,;ERAL1,missense_variant,p.Cys86Arg,ENST00000461894,;ERAL1,missense_variant,p.Cys86Arg,ENST00000412138,;ERAL1,upstream_gene_variant,,ENST00000471992,;ERAL1,upstream_gene_variant,,ENST00000577942,;							MODERATE	256/1314	C86R	ERAL1_HUMAN			Transcript		benign(0.001)	.	ENSP00000254928		CCDS11244.1			1	
ZMAT2	0	LGGM	GRCh37	5	140085293	140085293	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	43	13	.	.	ENST00000274712.3:c.552A>T	p.Ala184=	p.A184=	ENST00000274712	NM_144723.1	184	gcA/gcT	0	1	1	UPI0000029931	0		ENST00000274712		ENSG00000146007	26433		56			HGNC	p.A184A		ZMAT2		SNV							ENST00000274712	protein_coding			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF39		A		T		679/1634				R4GMX9_HUMAN			YES	ZMAT2,synonymous_variant,p.=,ENST00000274712,NM_144723.1;ZMAT2,downstream_gene_variant,,ENST00000519913,;ZMAT2,3_prime_UTR_variant,,ENST00000506644,;							LOW	552/600		ZMAT2_HUMAN			Transcript			.	ENSP00000274712		CCDS4239.1			1	
VRTN	0	LGGM	GRCh37	14	74824274	74824274	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	23	13	.	.	ENST00000256362.4:c.788C>T	p.Pro263Leu	p.P263L	ENST00000256362	NM_018228.2	263	cCa/cTa	0	1	1	UPI00000737D5	0	NA	ENST00000256362		ENSG00000133980	20223		36	1.39		HGNC	p.P263L		VRTN		SNV							ENST00000256362	protein_coding	getma.org/?cm=var&var=hg19,14,74824274,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16081:SF0,hmmpanther:PTHR16081		P/L		T	low	1029/3466		getma.org/?cm=msa&ty=f&p=VRTN_HUMAN&rb=230&re=302&var=P263L	deleterious(0.01)	G3V537_HUMAN			YES	VRTN,missense_variant,p.Pro263Leu,ENST00000256362,NM_018228.2;VRTN,downstream_gene_variant,,ENST00000557177,;							MODERATE	788/2109	P263L	VRTN_HUMAN			Transcript		benign(0.074)	.	ENSP00000256362		CCDS9830.1			1	
TP53	0	LGGM	GRCh37	17	7579358	7579358	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	23	13	.	.	ENST00000269305.4:c.329G>T	p.Arg110Leu	p.R110L	ENST00000269305	NM_001126112.2	110	cGt/cTt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R110L	ENST00000269305	uncertain_significance,not_provided	ENSG00000141510	11998		36	1.655		HGNC	p.R110L	rs11540654,TP53_g.11560G>T,COSM10716,COSM99929,COSM99928,COSM3723935,COSM1646883	TP53	6.06E-05	SNV			1			1,0,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7579358,C,A&fts=all	T:0	Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/L		A	low	519/2579	1.51E-05	getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R110L	deleterious(0.04)	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	T:0	T:0.003	YES	TP53,missense_variant,p.Arg110Leu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg110Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg110Leu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg110Leu,ENST00000445888,;TP53,missense_variant,p.Arg110Leu,ENST00000359597,;TP53,missense_variant,p.Arg110Leu,ENST00000413465,;TP53,missense_variant,p.Arg110Leu,ENST00000508793,;TP53,missense_variant,p.Arg110Leu,ENST00000604348,;TP53,missense_variant,p.Arg110Leu,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,non_coding_transcript_exon_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;		T:0.0006			0,0,1,1,1,1,1		MODERATE	329/1182	R110L	P53_HUMAN		T:0	Transcript		possibly_damaging(0.898)	.	ENSP00000269305	1.65E-05	CCDS11118.1		T:0	1	1,879,830,625,105,660
SLC2A3	0	LGGM	GRCh37	12	8082372	8082372	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	57	14	.	.	ENST00000075120.7:c.769G>T	p.Val257Leu	p.V257L	ENST00000075120	NM_006931.2	257	Gtg/Ttg	0	1	1	UPI0000001C7D	0	NA	ENST00000075120		ENSG00000059804	11007		71	0.365		HGNC	p.V257L		SLC2A3		SNV			1				ENST00000075120	protein_coding	getma.org/?cm=var&var=hg19,12,8082372,C,A&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		V/L		A	neutral	1010/3915		getma.org/?cm=msa&ty=f&p=GTR3_HUMAN&rb=13&re=465&var=V257L	tolerated(0.15)				YES	SLC2A3,missense_variant,p.Val257Leu,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,;							MODERATE	769/1491	V257L	GTR3_HUMAN			Transcript		benign(0.047)	.	ENSP00000075120		CCDS8586.1			1	
NLRP2	0	LGGM	GRCh37	19	55508823	55508823	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	85	14	.	.	ENST00000543010.1:c.3018G>T	p.Leu1006Phe	p.L1006F	ENST00000543010	NM_001174081.1	1006	ttG/ttT	0	1		UPI000004C0CC	0	NA	ENST00000448584		ENSG00000022556	22948		99	2.345		HGNC	p.L984F		NLRP2		SNV							ENST00000537859	protein_coding	getma.org/?cm=var&var=hg19,19,55508823,G,T&fts=all		Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14		L/F		T	medium	3160/3573		getma.org/?cm=msa&ty=f&p=NALP2_HUMAN&rb=975&re=1050&var=L1006F	deleterious(0)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN				NLRP2,missense_variant,p.Leu1006Phe,ENST00000543010,NM_001174081.1;NLRP2,missense_variant,p.Leu1006Phe,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,missense_variant,p.Leu984Phe,ENST00000537859,NM_001174082.1;NLRP2,missense_variant,p.Leu1003Phe,ENST00000263437,;NLRP2,missense_variant,p.Leu982Phe,ENST00000538819,;NLRP2,missense_variant,p.Leu984Phe,ENST00000339757,;NLRP2,missense_variant,p.Leu982Phe,ENST00000391721,;NLRP2,missense_variant,p.Leu983Phe,ENST00000427260,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,non_coding_transcript_exon_variant,,ENST00000542755,;NLRP2,downstream_gene_variant,,ENST00000543277,;							MODERATE	3018/3189	L1006F	NALP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000409370		CCDS12913.1			1	
SHISA2	0	LGGM	GRCh37	13	26620750	26620750	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	24	14	.	.	ENST00000319420.3:c.789A>G	p.Pro263=	p.P263=	ENST00000319420	NM_001007538.1	263	ccA/ccG	0	1	1	UPI000004BA7B	0		ENST00000319420		ENSG00000180730	20366		38			HGNC	p.P263P	rs771143066	SHISA2		SNV							ENST00000319420	protein_coding			hmmpanther:PTHR31395,hmmpanther:PTHR31395:SF0		P		C		845/2860	1.50E-05						YES	SHISA2,synonymous_variant,p.=,ENST00000319420,NM_001007538.1;							LOW	789/888		SHSA2_HUMAN			Transcript			.	ENSP00000313079	8.24E-06	CCDS31951.1			1	
ATF6	0	LGGM	GRCh37	1	161790902	161790902	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	40	14	.	.	ENST00000367942.3:c.1138T>C	p.Cys380Arg	p.C380R	ENST00000367942	NM_007348.3	380	Tgt/Cgt	0	1	1	UPI000013D3E4	0	NA	ENST00000367942		ENSG00000118217	791		54	2.52		HGNC	p.C380R		ATF6		SNV							ENST00000367942	protein_coding	getma.org/?cm=var&var=hg19,1,161790902,T,C&fts=all		hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF10		C/R		C	medium	1205/7496		getma.org/?cm=msa&ty=f&p=ATF6A_HUMAN&rb=368&re=567&var=C380R	deleterious(0)				YES	ATF6,missense_variant,p.Cys380Arg,ENST00000367942,NM_007348.3;							MODERATE	1138/2013	C380R	ATF6A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000356919		CCDS1235.1			1	
DACT3	0	LGGM	GRCh37	19	47151868	47151868	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	148	14	.	.	ENST00000391916.2:c.1761G>T	p.Gly587=	p.G587=	ENST00000391916	NM_145056.2	587	ggG/ggT	0	1	1	UPI0000202707	0		ENST00000391916		ENSG00000197380	30745		162			HGNC	p.G587G		DACT3		SNV							ENST00000391916	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15919,hmmpanther:PTHR15919:SF1,Pfam_domain:PF15268		G		A		1835/2834							YES	DACT3,synonymous_variant,p.=,ENST00000391916,NM_145056.2;DACT3,synonymous_variant,p.=,ENST00000300875,;DACT3,downstream_gene_variant,,ENST00000410105,;							LOW	1761/1890		DACT3_HUMAN			Transcript			.	ENSP00000375783		CCDS12688.2			1	
TTK	0	LGGM	GRCh37	6	80718153	80718153	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	33	15	.	.	ENST00000369798.2:c.413A>G	p.Asn138Ser	p.N138S	ENST00000369798	NM_003318.4	138	aAc/aGc	0	1	1	UPI0000073C7B	0	NA	ENST00000369798		ENSG00000112742	12401		48	1.845		HGNC	p.N138S		TTK		SNV							ENST00000509894	protein_coding	getma.org/?cm=var&var=hg19,6,80718153,A,G&fts=all		hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		N/S		G	low	524/3010		getma.org/?cm=msa&ty=f&p=TTK_HUMAN&rb=1&re=180&var=N138S	deleterious(0.01)	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN			YES	TTK,missense_variant,p.Asn138Ser,ENST00000509894,;TTK,missense_variant,p.Asn138Ser,ENST00000230510,;TTK,missense_variant,p.Asn138Ser,ENST00000369798,NM_003318.4,NM_001166691.1;TTK,missense_variant,p.Asn138Ser,ENST00000504040,;TTK,missense_variant,p.Asn138Ser,ENST00000511260,;TTK,missense_variant,p.Asn138Ser,ENST00000502580,;TTK,non_coding_transcript_exon_variant,,ENST00000430061,;TTK,downstream_gene_variant,,ENST00000509313,;							MODERATE	413/2574	N138S	TTK_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000358813		CCDS4993.1			1	
EPB41L1	0	LGGM	GRCh37	20	34778581	34778581	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	21	15	.	.	ENST00000338074.2:c.1162G>T	p.Val388Leu	p.V388L	ENST00000338074	NM_012156.2	388	Gtg/Ttg	0	1	1	UPI0000129AF8	0	NA	ENST00000338074		ENSG00000088367	3378		36	1.39		HGNC	p.V326L		EPB41L1		SNV			1				ENST00000441639	protein_coding	getma.org/?cm=var&var=hg19,20,34778581,G,T&fts=all		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF7,Pfam_domain:PF08736,PIRSF_domain:PIRSF002304,Superfamily_domains:SSF50729		V/L		T	low	1323/6266		getma.org/?cm=msa&ty=f&p=E41L1_HUMAN&rb=384&re=430&var=V388L	deleterious(0)	Q4VXN8_HUMAN,Q4VXN7_HUMAN,Q4VXN6_HUMAN,Q4VXN5_HUMAN,Q4VXN2_HUMAN,Q4VXN1_HUMAN,Q4VXN0_HUMAN			YES	EPB41L1,missense_variant,p.Val388Leu,ENST00000338074,NM_012156.2,NM_001258329.1;EPB41L1,missense_variant,p.Val326Leu,ENST00000441639,NM_177996.2;EPB41L1,missense_variant,p.Val357Leu,ENST00000373946,NM_001258330.1;EPB41L1,missense_variant,p.Val291Leu,ENST00000373950,;EPB41L1,missense_variant,p.Val326Leu,ENST00000202028,NM_001258331.1;EPB41L1,missense_variant,p.Val388Leu,ENST00000373941,;EPB41L1,downstream_gene_variant,,ENST00000430276,;EPB41L1,upstream_gene_variant,,ENST00000451082,;							MODERATE	1162/2646	V388L	E41L1_HUMAN			Transcript		possibly_damaging(0.758)	.	ENSP00000337168		CCDS13271.1			1	
ZNF679	0	LGGM	GRCh37	7	63726561	63726561	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	54	16	.	.	ENST00000421025.1:c.550T>A	p.Phe184Ile	p.F184I	ENST00000421025	NM_153363.2	184	Ttc/Atc	0	1		UPI000045756A	0	NA	ENST00000255746		ENSG00000197123	28650		70	2.725		HGNC	p.F184I		ZNF679		SNV							ENST00000255746	protein_coding	getma.org/?cm=var&var=hg19,7,63726561,T,A&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF91,Low_complexity_(Seg):seg,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/I		A	medium	550/1289		getma.org/?cm=msa&ty=f&p=ZN679_HUMAN&rb=57&re=198&var=F184I	deleterious(0)					ZNF679,missense_variant,p.Phe184Ile,ENST00000421025,NM_153363.2,NM_001159524.1;ZNF679,missense_variant,p.Phe184Ile,ENST00000255746,NM_001159524.1;							MODERATE	550/1236	F184I	ZN679_HUMAN			Transcript		benign(0.03)	.	ENSP00000255746		CCDS47592.1			1	
FMO5	0	LGGM	GRCh37	1	146684964	146684964	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	178	16	.	.	ENST00000254090.4:c.398A>C	p.Glu133Ala	p.E133A	ENST00000254090	NM_001461.3	133	gAa/gCa	0	1	1	UPI000013CE15	0	getma.org/pdb.php?prot=FMO5_HUMAN&from=3&to=533&var=E133A	ENST00000254090		ENSG00000131781	3773		194	1.435		HGNC	p.E133A		FMO5		SNV							ENST00000369272	protein_coding	getma.org/?cm=var&var=hg19,1,146684964,T,G&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF48,Superfamily_domains:SSF51905		E/A		G	low	787/2632		getma.org/?cm=msa&ty=f&p=FMO5_HUMAN&rb=3&re=533&var=E133A	tolerated(0.07)	E9PQ84_HUMAN,E9PP51_HUMAN			YES	FMO5,missense_variant,p.Glu133Ala,ENST00000254090,NM_001461.3;FMO5,missense_variant,p.Glu133Ala,ENST00000369272,NM_001144830.2;FMO5,missense_variant,p.Glu133Ala,ENST00000441068,NM_001144829.2;FMO5,missense_variant,p.Glu133Ala,ENST00000533174,;FMO5,missense_variant,p.Glu133Ala,ENST00000533848,;RP11-337C18.8,downstream_gene_variant,,ENST00000607149,;RP11-337C18.8,downstream_gene_variant,,ENST00000606757,;FMO5,non_coding_transcript_exon_variant,,ENST00000465173,;RP11-337C18.10,intron_variant,,ENST00000606856,;FMO5,downstream_gene_variant,,ENST00000478432,;FMO5,missense_variant,p.Glu133Ala,ENST00000527849,;							MODERATE	398/1602	E133A	FMO5_HUMAN			Transcript		benign(0.033)	.	ENSP00000254090		CCDS926.1			1	
SYNE1	0	LGGM	GRCh37	6	152763329	152763329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	31	17	.	.	ENST00000367255.5:c.3889G>A	p.Ala1297Thr	p.A1297T	ENST00000367255	NM_182961.3	1297	Gcg/Acg	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		48	0.84		HGNC	p.A1304T	rs781769990	SYNE1		SNV			1				ENST00000423061	protein_coding	getma.org/?cm=var&var=hg19,6,152763329,C,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Low_complexity_(Seg):seg		A/T		T	low	4491/27748	3.02E-05	getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=1284&re=1483&var=A1297T					YES	SYNE1,missense_variant,p.Ala1297Thr,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ala1297Thr,ENST00000265368,;SYNE1,missense_variant,p.Ala1304Thr,ENST00000448038,;SYNE1,missense_variant,p.Ala1304Thr,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ala1363Thr,ENST00000341594,;SYNE1,missense_variant,p.Ala1287Thr,ENST00000367248,;SYNE1,missense_variant,p.Ala1297Thr,ENST00000367253,;SYNE1,missense_variant,p.Ala1297Thr,ENST00000413186,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;							MODERATE	3889/26394	A1297T	SYNE1_HUMAN	0.000756		Transcript		benign(0.001)	common_variant	ENSP00000356224	5.77E-05	CCDS5236.2			1	
PTF1A	0	LGGM	GRCh37	10	23482637	23482637	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	161	17	.	.	ENST00000376504.3:c.789C>G	p.Ser263=	p.S263=	ENST00000376504	NM_178161.2	263	tcC/tcG	0	1	1	UPI000018F612	0		ENST00000376504		ENSG00000168267	23734		178			HGNC	p.S263S		PTF1A		SNV			1				ENST00000376504	protein_coding			hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF44		S		G		993/1537							YES	PTF1A,synonymous_variant,p.=,ENST00000376504,NM_178161.2;							LOW	789/987		PTF1A_HUMAN			Transcript			.	ENSP00000365687		CCDS7143.1			1	
KLKB1	0	LGGM	GRCh37	4	187172800	187172800	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	33	17	.	.	ENST00000264690.6:c.1028A>G	p.Glu343Gly	p.E343G	ENST00000264690	NM_000892.3	343	gAg/gGg	0	1	1	UPI000050EC06	0	getma.org/pdb.php?prot=KLKB1_HUMAN&from=292&to=375&var=E343G	ENST00000264690		ENSG00000164344	6371		50	1.1		HGNC	p.E343G		KLKB1		SNV			1				ENST00000513864	protein_coding	getma.org/?cm=var&var=hg19,4,187172800,A,G&fts=all		PROSITE_profiles:PS50948,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF74,PROSITE_patterns:PS00495,Pfam_domain:PF00024,Gene3D:3.50.4.10,SMART_domains:SM00223		E/G		G	low	1215/2363		getma.org/?cm=msa&ty=f&p=KLKB1_HUMAN&rb=292&re=375&var=E343G	tolerated(0.39)	C9JCT1_HUMAN,C9J075_HUMAN,C9IYG8_HUMAN			YES	KLKB1,missense_variant,p.Glu343Gly,ENST00000264690,NM_000892.3;KLKB1,missense_variant,p.Glu391Gly,ENST00000511608,;KLKB1,missense_variant,p.Glu343Gly,ENST00000513864,;KLKB1,non_coding_transcript_exon_variant,,ENST00000511406,;KLKB1,non_coding_transcript_exon_variant,,ENST00000467271,;							MODERATE	1028/1917	E343G	KLKB1_HUMAN			Transcript		benign(0.009)	.	ENSP00000264690		CCDS34120.1			1	
POLL	0	LGGM	GRCh37	10	103340063	103340063	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	39	18	.	.	ENST00000370162.3:c.1305A>T	p.Pro435=	p.P435=	ENST00000370162	NM_001174084.1	435	ccA/ccT	0	1	1	UPI00000398A1	0		ENST00000370162		ENSG00000166169	9184		57			HGNC	p.P435P		POLL		SNV							ENST00000370162	protein_coding			Gene3D:3.30.460.10,Pfam_domain:PF14792,Prints_domain:PR00869,PROSITE_patterns:PS00522,hmmpanther:PTHR11276,hmmpanther:PTHR11276:SF18,SMART_domains:SM00483,Superfamily_domains:SSF81301		P		A		1800/2792				Q5JQP8_HUMAN,Q5ZEY5_HUMAN,Q5JQP1_HUMAN,Q5JQP0_HUMAN,B4DE17_HUMAN			YES	DPCD,splice_region_variant,,ENST00000416979,;POLL,synonymous_variant,p.=,ENST00000370162,NM_001174084.1,NM_001174085.1,NM_013274.3;POLL,synonymous_variant,p.=,ENST00000299206,;POLL,synonymous_variant,p.=,ENST00000370169,;POLL,synonymous_variant,p.=,ENST00000370172,;POLL,synonymous_variant,p.=,ENST00000339310,;POLL,synonymous_variant,p.=,ENST00000370158,;POLL,synonymous_variant,p.=,ENST00000370168,;POLL,synonymous_variant,p.=,ENST00000456836,;POLL,synonymous_variant,p.=,ENST00000415897,;POLL,synonymous_variant,p.=,ENST00000429502,;POLL,downstream_gene_variant,,ENST00000436284,;POLL,downstream_gene_variant,,ENST00000426919,;POLL,downstream_gene_variant,,ENST00000413344,;POLL,downstream_gene_variant,,ENST00000454524,;DPCD,splice_region_variant,,ENST00000470165,;POLL,non_coding_transcript_exon_variant,,ENST00000463515,;POLL,non_coding_transcript_exon_variant,,ENST00000470140,;POLL,non_coding_transcript_exon_variant,,ENST00000485369,;POLL,downstream_gene_variant,,ENST00000461587,;							LOW	1305/1728		DPOLL_HUMAN			Transcript			.	ENSP00000359181		CCDS7513.1			1	
MCCC2	0	LGGM	GRCh37	5	70898336	70898336	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	45	18	.	.	ENST00000340941.6:c.387A>G	p.Val129=	p.V129=	ENST00000340941	NM_022132.4	129	gtA/gtG	0	1	1	UPI000012ED69	0		ENST00000340941		ENSG00000131844	6937		63			HGNC	p.V129V		MCCC2		SNV			1				ENST00000512218	protein_coding			PROSITE_profiles:PS50980,hmmpanther:PTHR22855,hmmpanther:PTHR22855:SF13,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		V		G		516/3665							YES	MCCC2,synonymous_variant,p.=,ENST00000340941,NM_022132.4;MCCC2,synonymous_variant,p.=,ENST00000323375,;MCCC2,synonymous_variant,p.=,ENST00000509358,;MCCC2,non_coding_transcript_exon_variant,,ENST00000510895,;MCCC2,non_coding_transcript_exon_variant,,ENST00000507169,;MCCC2,non_coding_transcript_exon_variant,,ENST00000505787,;MCCC2,upstream_gene_variant,,ENST00000505435,;MCCC2,synonymous_variant,p.=,ENST00000512218,;							LOW	387/1692		MCCB_HUMAN			Transcript			.	ENSP00000343657		CCDS34184.1			1	
PREX1	0	LGGM	GRCh37	20	47274768	47274768	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	77	19	.	.	ENST00000371941.3:c.1882-2A>T		p.X628_splice	ENST00000371941	NM_020820.3			0	1	1	UPI000013D375	0		ENST00000371941		ENSG00000124126	32594		96			HGNC	-		PREX1		SNV							ENST00000371941	protein_coding							A		-/6636							YES	PREX1,splice_acceptor_variant,,ENST00000396220,;PREX1,splice_acceptor_variant,,ENST00000371941,NM_020820.3;PREX1,upstream_gene_variant,,ENST00000482556,;							HIGH	1882/4980		PREX1_HUMAN			Transcript			.	ENSP00000361009		CCDS13410.1			1	
SLC25A10	0	LGGM	GRCh37	17	79687074	79687074	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	54	19	.	.	ENST00000331531.5:c.858A>G	p.Leu286=	p.L286=	ENST00000331531	NM_001270888.1	286	ctA/ctG	0	1		UPI0000001BED	0		ENST00000350690		ENSG00000183048	10980		73			HGNC	p.L234L		SLC25A10		SNV							ENST00000545862	protein_coding			PROSITE_profiles:PS50920,hmmpanther:PTHR24089:SF39,hmmpanther:PTHR24089,Gene3D:1okcA00,Pfam_domain:PF00153,Superfamily_domains:0048588,Prints_domain:PR00784		L		G		917/1885				B4E1E9_HUMAN				SLC25A10,synonymous_variant,p.=,ENST00000331531,NM_001270888.1;SLC25A10,synonymous_variant,p.=,ENST00000571730,;SLC25A10,synonymous_variant,p.=,ENST00000541223,;SLC25A10,synonymous_variant,p.=,ENST00000350690,NM_012140.4,NM_001270953.1;SLC25A10,synonymous_variant,p.=,ENST00000545862,;SLC25A10,3_prime_UTR_variant,,ENST00000574129,;SLC25A10,non_coding_transcript_exon_variant,,ENST00000573246,;SLC25A10,downstream_gene_variant,,ENST00000574884,;SLC25A10,downstream_gene_variant,,ENST00000570310,;SLC25A10,downstream_gene_variant,,ENST00000571876,;							LOW	831/864		DIC_HUMAN			Transcript			.	ENSP00000345580		CCDS11786.1			1	
SPG20	0	LGGM	GRCh37	13	36886605	36886605	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	63	19	.	.	ENST00000451493.1:c.1493T>G	p.Val498Gly	p.V498G	ENST00000451493	NM_001142295.1	498	gTt/gGt	0	1		UPI000006F5EE	0	NA	ENST00000355182		ENSG00000133104	18514		82	2.75		HGNC	p.V498G		SPG20		SNV			1				ENST00000423217	protein_coding	getma.org/?cm=var&var=hg19,13,36886605,A,C&fts=all		Pfam_domain:PF06911,hmmpanther:PTHR21068,hmmpanther:PTHR21068:SF20		V/G		C	medium	1587/4820		getma.org/?cm=msa&ty=f&p=SPG20_HUMAN&rb=426&re=613&var=V498G	deleterious(0)					SPG20,missense_variant,p.Val498Gly,ENST00000451493,NM_001142295.1;SPG20,missense_variant,p.Val498Gly,ENST00000355182,NM_001142294.1;SPG20,missense_variant,p.Val498Gly,ENST00000438666,NM_015087.4;SPG20,missense_variant,p.Val498Gly,ENST00000494062,NM_001142296.1;SPG20,non_coding_transcript_exon_variant,,ENST00000475603,;SPG20,non_coding_transcript_exon_variant,,ENST00000491805,;SPG20,non_coding_transcript_exon_variant,,ENST00000482146,;SPG20,upstream_gene_variant,,ENST00000460126,;							MODERATE	1493/2001	V498G	SPG20_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000347314		CCDS9356.1			1	
CUBN	0	LGGM	GRCh37	10	17026201	17026201	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	42	20	.	.	ENST00000377833.4:c.4428G>C	p.Gln1476His	p.Q1476H	ENST00000377833	NM_001081.3	1476	caG/caC	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=1391&to=1503&var=Q1476H	ENST00000377833		ENSG00000107611	2548		62	1.495		HGNC	p.Q1476H		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,17026201,C,G&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF561,SMART_domains:SM00042,Superfamily_domains:SSF49854		Q/H		G	low	4494/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=1391&re=1503&var=Q1476H	tolerated(0.18)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Gln1476His,ENST00000377833,NM_001081.3;CUBN,upstream_gene_variant,,ENST00000438254,;							MODERATE	4428/10872	Q1476H	CUBN_HUMAN			Transcript		benign(0.046)	.	ENSP00000367064		CCDS7113.1			1	
USP25	0	LGGM	GRCh37	21	17191059	17191059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	53	20	.	.	ENST00000285679.6:c.974T>C	p.Leu325Pro	p.L325P	ENST00000285679	NM_013396.3	325	cTt/cCt	0	1	1	UPI000002B680	0	getma.org/pdb.php?prot=UBP25_HUMAN&from=166&to=654&var=L325P	ENST00000285679		ENSG00000155313	12624		73	2.965		HGNC	p.L325P		USP25		SNV							ENST00000400183	protein_coding	getma.org/?cm=var&var=hg19,21,17191059,T,C&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF111,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		L/P		C	medium	1343/3973		getma.org/?cm=msa&ty=f&p=UBP25_HUMAN&rb=166&re=654&var=L325P	deleterious(0)	Q9HA22_HUMAN			YES	USP25,missense_variant,p.Leu325Pro,ENST00000285681,NM_001283042.1;USP25,missense_variant,p.Leu325Pro,ENST00000400183,NM_001283041.1;USP25,missense_variant,p.Leu325Pro,ENST00000285679,NM_013396.3;USP25,intron_variant,,ENST00000351097,;USP25,downstream_gene_variant,,ENST00000547201,;USP25,downstream_gene_variant,,ENST00000549362,;							MODERATE	974/3168	L325P	UBP25_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000285679		CCDS33515.1			1	
KIF4B	0	LGGM	GRCh37	5	154395997	154395997	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	53	21	.	.	ENST00000435029.4:c.2578A>T	p.Ile860Phe	p.I860F	ENST00000435029	NM_001099293.1	860	Att/Ttt	0	1	1	UPI000013D5DB	0	NA	ENST00000435029		ENSG00000226650	6322		74	2.11		HGNC	p.I860F		KIF4B		SNV							ENST00000435029	protein_coding	getma.org/?cm=var&var=hg19,5,154395997,A,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392		I/F		T	medium	2738/4426		getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=378&re=1232&var=I860F	deleterious(0.01)				YES	KIF4B,missense_variant,p.Ile860Phe,ENST00000435029,NM_001099293.1;							MODERATE	2578/3705	I860F	KIF4B_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000387875		CCDS47324.1			1	
C1orf101	0	LGGM	GRCh37	1	244681924	244681924	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	54	21	.	.	ENST00000366534.4:c.460A>G	p.Thr154Ala	p.T154A	ENST00000366534	NM_001130957.1	154	Aca/Gca	0	1	1	UPI00004701CD	0	NA	ENST00000366534		ENSG00000179397	28491		75	1.39		HGNC	p.T3A	rs772548361	C1orf101		SNV							ENST00000366531	protein_coding	getma.org/?cm=var&var=hg19,1,244681924,A,G&fts=all				T/A		G	low	514/3333		getma.org/?cm=msa&ty=f&p=CA101_HUMAN&rb=1&re=950&var=T154A	tolerated(0.19)				YES	C1orf101,missense_variant,p.Thr154Ala,ENST00000366534,NM_001130957.1;C1orf101,missense_variant,p.Thr154Ala,ENST00000366533,NM_173807.4;C1orf101,missense_variant,p.Thr3Ala,ENST00000366531,NM_001242340.1;C1orf101,intron_variant,,ENST00000428042,;C1orf101,non_coding_transcript_exon_variant,,ENST00000464170,;C1orf101,intron_variant,,ENST00000473875,;C1orf101,intron_variant,,ENST00000460986,;C1orf101,intron_variant,,ENST00000478554,;	0.000116						MODERATE	460/2856	T154A	CA101_HUMAN			Transcript		benign(0.023)	.	ENSP00000355492	8.24E-06	CCDS44340.1			1	
ADGB	0	LGGM	GRCh37	6	147057726	147057726	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	C	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	19	22	.	.	ENST00000397944.3:c.2887A>C	p.Arg963=	p.R963=	ENST00000397944	NM_024694.3	963	Aga/Cga	0	1	1	UPI000020E382	0		ENST00000397944		ENSG00000118492	21212		41			HGNC	p.R963R		ADGB		SNV							ENST00000397944	protein_coding			hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283		R		C		2963/5325							YES	ADGB,splice_region_variant,p.=,ENST00000397944,NM_024694.3;ADGB,splice_region_variant,p.=,ENST00000367493,;ADGB,splice_region_variant,p.=,ENST00000367490,;ADGB,splice_region_variant,,ENST00000493950,;ADGB,splice_region_variant,p.=,ENST00000480328,;							LOW	2887/5004		ADGB_HUMAN			Transcript			.	ENSP00000381036					1	
PPARGC1B	0	LGGM	GRCh37	5	149216025	149216025	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	47	23	.	.	ENST00000309241.5:c.2007A>G	p.Arg669=	p.R669=	ENST00000309241	NM_133263.3	669	cgA/cgG	0	1	1	UPI000006F49D	0		ENST00000309241		ENSG00000155846	30022		70			HGNC	p.R669R		PPARGC1B		SNV							ENST00000309241	protein_coding			hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528		R		G		2039/10568							YES	PPARGC1B,synonymous_variant,p.=,ENST00000309241,NM_133263.3;PPARGC1B,synonymous_variant,p.=,ENST00000394320,;PPARGC1B,synonymous_variant,p.=,ENST00000403750,NM_001172699.1;PPARGC1B,synonymous_variant,p.=,ENST00000360453,NM_001172698.1;PPARGC1B,synonymous_variant,p.=,ENST00000434684,;							LOW	2007/3072		PRGC2_HUMAN			Transcript			.	ENSP00000312649		CCDS4298.1			1	
TRIM32	0	LGGM	GRCh37	9	119461937	119461937	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	37	23	.	.	ENST00000450136.1:c.1916G>A	p.Cys639Tyr	p.C639Y	ENST00000450136	NM_012210.3	639	tGc/tAc	0	1		UPI000012CDB9	0	NA	ENST00000373983		ENSG00000119401	16380		60	2.445		HGNC	p.C639Y		TRIM32		SNV			1				ENST00000373983	protein_coding	getma.org/?cm=var&var=hg19,9,119461937,G,A&fts=all		Gene3D:2.120.10.30,Pfam_domain:PF01436,PROSITE_profiles:PS51125,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF308,Superfamily_domains:SSF101898		C/Y		A	medium	2046/3688		getma.org/?cm=msa&ty=f&p=TRI32_HUMAN&rb=596&re=653&var=C639Y	deleterious(0.02)	Q5JVY0_HUMAN				TRIM32,missense_variant,p.Cys639Tyr,ENST00000450136,NM_012210.3,NM_001099679.1;TRIM32,missense_variant,p.Cys639Tyr,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,;							MODERATE	1916/1962	C639Y	TRI32_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000363095		CCDS6817.1			1	
PRX	0	LGGM	GRCh37	19	40901558	40901558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	38	23	.	.	ENST00000324001.7:c.2701G>T	p.Val901Phe	p.V901F	ENST00000324001	NM_181882.2	901	Gtt/Ttt	0	1	1	UPI000044CC1A	0	NA	ENST00000324001		ENSG00000105227	13797		61	0.975		HGNC	p.V901F		PRX		SNV			1				ENST00000324001	protein_coding	getma.org/?cm=var&var=hg19,19,40901558,C,A&fts=all		hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348		V/F		A	low	2972/4855		getma.org/?cm=msa&ty=f&p=PRAX_HUMAN&rb=801&re=1000&var=V901F	tolerated(0.12)				YES	PRX,missense_variant,p.Val901Phe,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;							MODERATE	2701/4386	V901F	PRAX_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000326018		CCDS33028.1			1	
KCTD3	0	LGGM	GRCh37	1	215793698	215793698	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	58	24	.	.	ENST00000259154.4:c.2186A>G	p.His729Arg	p.H729R	ENST00000259154	NM_016121.3	729	cAt/cGt	0	1	1	UPI0000071A2E	0	NA	ENST00000259154		ENSG00000136636	21305		82	0.55		HGNC	p.H729R	rs781243677	KCTD3		SNV							ENST00000259154	protein_coding	getma.org/?cm=var&var=hg19,1,215793698,A,G&fts=all		hmmpanther:PTHR15859,hmmpanther:PTHR15859:SF2		H/R		G	neutral	2480/3931	1.51E-05	getma.org/?cm=msa&ty=f&p=KCTD3_HUMAN&rb=710&re=815&var=H729R	tolerated_low_confidence(0.5)	B4DJX2_HUMAN			YES	KCTD3,missense_variant,p.His729Arg,ENST00000259154,NM_016121.3;USH2A,downstream_gene_variant,,ENST00000366943,;USH2A,downstream_gene_variant,,ENST00000307340,NM_206933.2;KCTD3,downstream_gene_variant,,ENST00000452413,;KCTD3,non_coding_transcript_exon_variant,,ENST00000495537,;KCTD3,downstream_gene_variant,,ENST00000465650,;							MODERATE	2186/2448	H729R	KCTD3_HUMAN			Transcript		benign(0.013)	.	ENSP00000259154	8.24E-06	CCDS1515.1			1	
OR2G2	0	LGGM	GRCh37	1	247752350	247752350	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	52	24	.	.	ENST00000320065.1:c.689G>A	p.Arg230Lys	p.R230K	ENST00000320065	NM_001001915.1	230	aGg/aAg	0	1	1	UPI0000061EB9	0	NA	ENST00000320065		ENSG00000177489	15007		76	0.535		HGNC	p.R230K		OR2G2		SNV							ENST00000320065	protein_coding	getma.org/?cm=var&var=hg19,1,247752350,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF132,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		R/K		A	neutral	689/954		getma.org/?cm=msa&ty=f&p=OR2G2_HUMAN&rb=142&re=286&var=R230K	tolerated(0.47)				YES	OR2G2,missense_variant,p.Arg230Lys,ENST00000320065,NM_001001915.1;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;							MODERATE	689/954	R230K	OR2G2_HUMAN			Transcript		benign(0.009)	.	ENSP00000326349		CCDS31092.1			1	
POLR2L	0	LGGM	GRCh37	11	840408	840408	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	45	24	.	.	ENST00000322028.4:c.168C>A	p.Ile56=	p.I56=	ENST00000322028	NM_021128.4	56	atC/atA	0	1	1	UPI0000025AD1	0		ENST00000322028		ENSG00000177700	9199	0.000433	69			HGNC	p.I56I	rs769963238	POLR2L		SNV							ENST00000534030	protein_coding			HAMAP:MF_00250,hmmpanther:PTHR23413,hmmpanther:PTHR23413:SF8,Gene3D:1.10.10.60,Pfam_domain:PF01194,PIRSF_domain:PIRSF005653,Superfamily_domains:SSF46924		I		T		205/892							YES	POLR2L,synonymous_variant,p.=,ENST00000322028,NM_021128.4;CD151,downstream_gene_variant,,ENST00000397420,;CD151,downstream_gene_variant,,ENST00000322008,NM_004357.4,NM_139029.1;CD151,downstream_gene_variant,,ENST00000397421,NM_139030.3,NM_001039490.1;TSPAN4,upstream_gene_variant,,ENST00000397404,NM_001025237.1;TSPAN4,upstream_gene_variant,,ENST00000397408,NM_001025236.1,NM_001025235.1;TSPAN4,upstream_gene_variant,,ENST00000397406,NM_001025234.1;TSPAN4,upstream_gene_variant,,ENST00000397397,NM_003271.4;CD151,downstream_gene_variant,,ENST00000528011,;TSPAN4,upstream_gene_variant,,ENST00000397396,NM_001025239.1;TSPAN4,upstream_gene_variant,,ENST00000409543,;TSPAN4,upstream_gene_variant,,ENST00000397411,NM_001025238.1;TSPAN4,upstream_gene_variant,,ENST00000525334,;TSPAN4,upstream_gene_variant,,ENST00000525201,;TSPAN4,upstream_gene_variant,,ENST00000530404,;CD151,downstream_gene_variant,,ENST00000527341,;CD151,downstream_gene_variant,,ENST00000524748,;CD151,downstream_gene_variant,,ENST00000526693,;CD151,downstream_gene_variant,,ENST00000526439,;CD151,downstream_gene_variant,,ENST00000530320,;CD151,downstream_gene_variant,,ENST00000529810,;CD151,downstream_gene_variant,,ENST00000525718,;CD151,downstream_gene_variant,,ENST00000525333,;CD151,downstream_gene_variant,,ENST00000528867,;CD151,downstream_gene_variant,,ENST00000525181,;POLR2L,synonymous_variant,p.=,ENST00000534030,;CD151,downstream_gene_variant,,ENST00000532045,;CD151,downstream_gene_variant,,ENST00000530726,;CD151,downstream_gene_variant,,ENST00000526661,;CD151,downstream_gene_variant,,ENST00000532075,;CD151,downstream_gene_variant,,ENST00000531999,;CD151,downstream_gene_variant,,ENST00000525868,;CD151,downstream_gene_variant,,ENST00000530155,;							LOW	168/204		RPAB5_HUMAN			Transcript			common_variant	ENSP00000324124	4.12E-05	CCDS7720.1			1	
C5AR2	0	LGGM	GRCh37	19	47844507	47844507	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	34	24	.	.	ENST00000595464.1:c.451G>T	p.Val151Leu	p.V151L	ENST00000595464	NM_001271749.1	151	Gtg/Ttg	0	1	1	UPI000003BCC8	0	getma.org/pdb.php?prot=C5ARL_HUMAN&from=52&to=291&var=V151L	ENST00000595464		ENSG00000134830	4527		58	1.845		HGNC	p.V151L		C5AR2		SNV							ENST00000257267	protein_coding	getma.org/?cm=var&var=hg19,19,47844507,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24225:SF1,hmmpanther:PTHR24225,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		V/L		T	low	669/2768		getma.org/?cm=msa&ty=f&p=C5ARL_HUMAN&rb=52&re=291&var=V151L	tolerated(0.06)				YES	C5AR2,missense_variant,p.Val151Leu,ENST00000595464,NM_001271749.1;C5AR2,missense_variant,p.Val151Leu,ENST00000600626,NM_018485.2,NM_001271750.1;C5AR2,missense_variant,p.Val151Leu,ENST00000257267,;							MODERATE	451/1014	V151L	C5AR2_HUMAN			Transcript		benign(0.063)	.	ENSP00000472620		CCDS12699.1			1	
ZNF418	0	LGGM	GRCh37	19	58438780	58438780	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	125	32	.	.	ENST00000396147.1:c.769C>T	p.Pro257Ser	p.P257S	ENST00000396147	NM_133460.1	257	Cct/Tct	0	1	1	UPI000013B4C8	0	getma.org/pdb.php?prot=ZN418_HUMAN&from=244&to=269&var=P257S	ENST00000396147		ENSG00000196724	20647		157	1.135		HGNC	p.P172S		ZNF418		SNV							ENST00000599852	protein_coding	getma.org/?cm=var&var=hg19,19,58438780,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF192,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		P/S		A	low	1061/3694		getma.org/?cm=msa&ty=f&p=ZN418_HUMAN&rb=224&re=289&var=P257S	tolerated(0.47)	M0QX82_HUMAN			YES	ZNF418,missense_variant,p.Pro257Ser,ENST00000396147,NM_133460.1;ZNF418,missense_variant,p.Pro278Ser,ENST00000425570,;ZNF418,missense_variant,p.Pro257Ser,ENST00000595830,;ZNF418,missense_variant,p.Pro172Ser,ENST00000599852,;ZNF418,intron_variant,,ENST00000600989,;ZNF418,downstream_gene_variant,,ENST00000595569,;ZNF418,downstream_gene_variant,,ENST00000593296,;ZNF418,downstream_gene_variant,,ENST00000601593,;ZNF418,intron_variant,,ENST00000598213,;ZNF418,upstream_gene_variant,,ENST00000599086,;							MODERATE	769/2031	P257S	ZN418_HUMAN			Transcript		possibly_damaging(0.502)	.	ENSP00000379451		CCDS42642.1			1	
ZIM3	0	LGGM	GRCh37	19	57646400	57646400	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	80	37	.	.	ENST00000269834.1:c.1305T>A	p.Ser435Arg	p.S435R	ENST00000269834	NM_052882.1	435	agT/agA	0	1	1	UPI000013C3E0	0	getma.org/pdb.php?prot=ZIM3_HUMAN&from=433&to=458&var=S435R	ENST00000269834		ENSG00000141946	16366		117	-0.075		HGNC	p.S435R		ZIM3		SNV							ENST00000269834	protein_coding	getma.org/?cm=var&var=hg19,19,57646400,A,T&fts=all		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		S/R		T	neutral	1691/2627		getma.org/?cm=msa&ty=f&p=ZIM3_HUMAN&rb=413&re=472&var=S435R	tolerated(0.53)				YES	ZIM3,missense_variant,p.Ser435Arg,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000254181,NM_020903.2;USP29,downstream_gene_variant,,ENST00000598197,;U3,upstream_gene_variant,,ENST00000516874,;							MODERATE	1305/1419	S435R	ZIM3_HUMAN			Transcript		benign(0.008)	.	ENSP00000269834		CCDS33125.1			1	
HEATR5A	0	LGGM	GRCh37	14	31817006	31817006	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	76	44	.	.	ENST00000389961.3:c.2798G>T	p.Cys933Phe	p.C933F	ENST00000389961		933	tGt/tTt	0	1	1	UPI0001890E04	0	NA	ENST00000543095		ENSG00000129493	20276		120	2.14		HGNC	p.C646F	rs751517427	HEATR5A		SNV							ENST00000439727	protein_coding	getma.org/?cm=var&var=hg19,14,31817006,C,A&fts=all		hmmpanther:PTHR21663:SF1,hmmpanther:PTHR21663,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		C/F		A	medium	3001/7840		getma.org/?cm=msa&ty=f&p=HTR5A_HUMAN&rb=801&re=1000&var=C933F	deleterious(0.02)	F8VQQ6_HUMAN,F5H619_HUMAN,E9PB09_HUMAN				HEATR5A,missense_variant,p.Cys939Phe,ENST00000543095,NM_015473.3;HEATR5A,missense_variant,p.Cys933Phe,ENST00000389961,;HEATR5A,missense_variant,p.Cys933Phe,ENST00000439348,;HEATR5A,missense_variant,p.Cys646Phe,ENST00000439727,;HEATR5A,missense_variant,p.Cys567Phe,ENST00000538864,;HEATR5A,missense_variant,p.Cys939Phe,ENST00000404677,;HEATR5A,missense_variant,p.Cys582Phe,ENST00000550366,;HEATR5A,upstream_gene_variant,,ENST00000549719,;RP11-176H8.1,3_prime_UTR_variant,,ENST00000549185,;	0.000277						MODERATE	2816/6141	C933F				Transcript		possibly_damaging(0.905)	.	ENSP00000437968	1.66E-05				1	
MUC16	0	LGGM	GRCh37	19	9057603	9057603	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	137	46	.	.	ENST00000397910.4:c.29843T>C	p.Met9948Thr	p.M9948T	ENST00000397910	NM_024690.2	9948	aTg/aCg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		183	0		HGNC	p.M9948T		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9057603,A,G&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,Low_complexity_(Seg):seg		M/T		G	neutral	30047/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=9868&re=9959&var=M9950T		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Met9948Thr,ENST00000397910,NM_024690.2;							MODERATE	29843/43524	M9950T				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
PCDHA11	0	LGGM	GRCh37	5	140250060	140250060	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093002	H093002N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	116	53	.	.	ENST00000398640.2:c.1372G>T	p.Glu458Ter	p.E458*	ENST00000398640	NM_018902.3	458	Gag/Tag	0	1	1	UPI00001273D4	0	NA	ENST00000398640		ENSG00000249158	8665		169	0		HGNC	p.E458X		PCDHA11		SNV							ENST00000398640	protein_coding	getma.org/?cm=var&var=hg19,5,140250060,G,T&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,Superfamily_domains:SSF49313		E/*		T	NA	1372/5257		NA					YES	PCDHA11,stop_gained,p.Glu458Ter,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;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;							HIGH	1372/2850	E458*	PCDAB_HUMAN			Transcript			.	ENSP00000381636		CCDS47284.1			1	
EPHA4	0	LGGM	GRCh37	2	222347204	222347204	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093002	H093002N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	95	55	.	.	ENST00000281821.2:c.1186A>T	p.Thr396Ser	p.T396S	ENST00000281821	NM_004438.3	396	Acc/Tcc	0	1	1	UPI000012A077	0	getma.org/pdb.php?prot=EPHA4_HUMAN&from=330&to=424&var=T396S	ENST00000281821		ENSG00000116106	3388		150	1.89		HGNC	p.T345S		EPHA4		SNV							ENST00000392071	protein_coding	getma.org/?cm=var&var=hg19,2,222347204,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF25,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/S		A	low	1228/6346		getma.org/?cm=msa&ty=f&p=EPHA4_HUMAN&rb=330&re=424&var=T396S	tolerated(0.44)	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN			YES	EPHA4,missense_variant,p.Thr396Ser,ENST00000281821,NM_004438.3;EPHA4,missense_variant,p.Thr396Ser,ENST00000409854,;EPHA4,missense_variant,p.Thr396Ser,ENST00000409938,;EPHA4,missense_variant,p.Thr345Ser,ENST00000392071,;EPHA4,missense_variant,p.Thr100Ser,ENST00000443796,;EPHA4,missense_variant,p.Thr133Ser,ENST00000441679,;EPHA4,non_coding_transcript_exon_variant,,ENST00000463446,;							MODERATE	1186/2961	T396S	EPHA4_HUMAN			Transcript		benign(0.025)	.	ENSP00000281821		CCDS2447.1			1	
TOP2A	0	LGGM	GRCh37	17	38557150	38557150	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093002	H093002N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	183	68	.	.	ENST00000423485.1:c.2616T>A	p.Ile872=	p.I872=	ENST00000423485	NM_001067.3	872	atT/atA	0	1	1	UPI0000137195	0		ENST00000423485		ENSG00000131747	11989		251			HGNC	p.I872I		TOP2A		SNV			1				ENST00000423485	protein_coding			hmmpanther:PTHR10169:SF33,hmmpanther:PTHR10169,Pfam_domain:PF00521,Gene3D:3.90.199.10,SMART_domains:SM00434,Superfamily_domains:SSF56719		I		T		2775/5758				J3QR57_HUMAN,J3KTB7_HUMAN			YES	TOP2A,synonymous_variant,p.=,ENST00000423485,NM_001067.3;TOP2A,upstream_gene_variant,,ENST00000577706,;							LOW	2616/4596		TOP2A_HUMAN			Transcript			.	ENSP00000411532		CCDS45672.1			1	
FLG2	0	LGGM	GRCh37	1	152328784	152328784	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093002	H093002N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093002N.bam, H093002T.bam	Illumina HiSeq	133	80	.	.	ENST00000388718.5:c.1478G>A	p.Gly493Glu	p.G493E	ENST00000388718	NM_001014342.2	493	gGa/gAa	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		213	1.245		HGNC	p.G493E		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152328784,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G/E		T	low	1551/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=461&re=1139&var=G493E					YES	FLG2,missense_variant,p.Gly493Glu,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	1478/7176	G493E	FILA2_HUMAN			Transcript		unknown(0)	.	ENSP00000373370		CCDS30861.1			1	
DNM1	0	LGGM	GRCh37	9	131009698	131009698	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	7	2	.	.	ENST00000372923.3:c.1826C>A	p.Thr609Lys	p.T609K	ENST00000372923	NM_004408.2	609	aCa/aAa	0	1	1	UPI000013CA31	0	getma.org/pdb.php?prot=DYN1_HUMAN&from=520&to=623&var=T609K	ENST00000372923		ENSG00000106976	2972		9	2.33		HGNC	p.T609K		DNM1		SNV			1				ENST00000486160	protein_coding	getma.org/?cm=var&var=hg19,9,131009698,C,A&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR11566,hmmpanther:PTHR11566:SF32,SMART_domains:SM00233,Superfamily_domains:SSF50729		T/K		A	medium	1918/3221		getma.org/?cm=msa&ty=f&p=DYN1_HUMAN&rb=520&re=623&var=T609K	deleterious(0.03)				YES	DNM1,missense_variant,p.Thr609Lys,ENST00000341179,NM_001005336.1;DNM1,missense_variant,p.Thr609Lys,ENST00000372923,NM_004408.2,NM_001288739.1;DNM1,missense_variant,p.Thr609Lys,ENST00000393594,NM_001288737.1;DNM1,missense_variant,p.Thr609Lys,ENST00000486160,;DNM1,missense_variant,p.Thr609Lys,ENST00000475805,NM_001288738.1;MIR199B,upstream_gene_variant,,ENST00000384849,;MIR3154,upstream_gene_variant,,ENST00000577829,;DNM1,downstream_gene_variant,,ENST00000493925,;DNM1,downstream_gene_variant,,ENST00000479174,;DNM1,non_coding_transcript_exon_variant,,ENST00000441149,;							MODERATE	1826/2595	T609K	DYN1_HUMAN			Transcript		benign(0.097)	.	ENSP00000362014		CCDS6895.1			1	
FGFR3	0	LGGM	GRCh37	4	1806087	1806087	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	34	3	.	.	ENST00000260795.2:c.1106C>A	p.Ala369Glu	p.A369E	ENST00000260795		369	gCg/gAg	0	1		UPI000012A72C	0	NA	ENST00000260795		ENSG00000068078	3690		37	1.585		HGNC	p.A369E		FGFR3		SNV			1				ENST00000440486	protein_coding	getma.org/?cm=var&var=hg19,4,1806087,C,A&fts=all		PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF128,Low_complexity_(Seg):seg		A/E		A	low	1208/4132		getma.org/?cm=msa&ty=f&p=FGFR3_HUMAN&rb=357&re=471&var=A369E	tolerated(0.62)	Q96T36_HUMAN,Q8NI15_HUMAN				FGFR3,missense_variant,p.Ala371Glu,ENST00000340107,NM_001163213.1;FGFR3,missense_variant,p.Ala369Glu,ENST00000440486,NM_000142.4;FGFR3,missense_variant,p.Ala369Glu,ENST00000481110,;FGFR3,missense_variant,p.Ala369Glu,ENST00000260795,;FGFR3,intron_variant,,ENST00000412135,NM_022965.3;FGFR3,intron_variant,,ENST00000352904,;FGFR3,downstream_gene_variant,,ENST00000507588,;FGFR3,downstream_gene_variant,,ENST00000474521,;FGFR3,upstream_gene_variant,,ENST00000469068,;							MODERATE	1106/2421	A369E	FGFR3_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000260795		CCDS3353.1			1	
FITM1	0	LGGM	GRCh37	14	24601909	24601909	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	34	3	.	.	ENST00000267426.5:c.756C>A	p.Gly252=	p.G252=	ENST00000267426	NM_203402.2	252	ggC/ggA	0	1	1	UPI000016146D	0		ENST00000267426		ENSG00000139914	33714		37			HGNC	p.G56G		FITM1		SNV							ENST00000559294	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR23129:SF3,hmmpanther:PTHR23129,Pfam_domain:PF10261		G		A		1045/1194							YES	FITM1,synonymous_variant,p.=,ENST00000267426,NM_203402.2;FITM1,synonymous_variant,p.=,ENST00000559294,;PSME1,upstream_gene_variant,,ENST00000382708,NM_176783.2;PSME1,upstream_gene_variant,,ENST00000559123,;PSME1,upstream_gene_variant,,ENST00000206451,NM_001281529.1,NM_001281528.1,NM_006263.3;PSME1,upstream_gene_variant,,ENST00000561435,;RP11-468E2.6,downstream_gene_variant,,ENST00000558325,;PSME1,upstream_gene_variant,,ENST00000470718,;PSME1,upstream_gene_variant,,ENST00000561059,;PSME1,upstream_gene_variant,,ENST00000560420,;PSME1,upstream_gene_variant,,ENST00000561142,;PSME1,upstream_gene_variant,,ENST00000559741,;PSME1,upstream_gene_variant,,ENST00000558112,;							LOW	756/879		FITM1_HUMAN			Transcript			.	ENSP00000267426		CCDS9611.1			1	
ZFR	0	LGGM	GRCh37	5	32420093	32420093	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	45	3	.	.	ENST00000265069.8:c.253G>A	p.Ala85Thr	p.A85T	ENST00000265069	NM_016107.3	85	Gcc/Acc	0	1	1	UPI00001BBB38	0	NA	ENST00000265069		ENSG00000056097	17277		48	0.895		HGNC	p.A85T		ZFR		SNV			1				ENST00000265069	protein_coding	getma.org/?cm=var&var=hg19,5,32420093,C,T&fts=all		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87,Low_complexity_(Seg):seg		A/T		T	low	356/4738		getma.org/?cm=msa&ty=f&p=ZFR_HUMAN&rb=1&re=200&var=A85T	tolerated(0.05)	B3KP82_HUMAN			YES	ZFR,missense_variant,p.Ala85Thr,ENST00000265069,NM_016107.3;ZFR,non_coding_transcript_exon_variant,,ENST00000505366,;ZFR,non_coding_transcript_exon_variant,,ENST00000505204,;							MODERATE	253/3225	A85T	ZFR_HUMAN			Transcript		possibly_damaging(0.561)	.	ENSP00000265069		CCDS34139.1			1	
STRC	0	LGGM	GRCh37	15	43910222	43910222	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	7	3	.	.	ENST00000450892.2:c.397C>A	p.Gln133Lys	p.Q133K	ENST00000450892	NM_153700.2	133	Cag/Aag	0	1	1	UPI000013E60F	0	NA	ENST00000450892		ENSG00000242866	16035		10	0.695		HGNC	p.Q133K		STRC		SNV			1				ENST00000450892	protein_coding	getma.org/?cm=var&var=hg19,15,43910222,G,T&fts=all		hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		Q/K		T	neutral	475/5680		getma.org/?cm=msa&ty=f&p=STRCL_HUMAN&rb=1&re=1770&var=Q133K	tolerated(0.1)	E7EPM8_HUMAN			YES	STRC,missense_variant,p.Gln133Lys,ENST00000450892,NM_153700.2;STRC,missense_variant,p.Gln73Lys,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;snoU13,downstream_gene_variant,,ENST00000459277,;STRC,missense_variant,p.Gln133Lys,ENST00000428650,;STRC,missense_variant,p.Gln133Lys,ENST00000440125,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000483250,;							MODERATE	397/5328	Q133K	STRC_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000401513		CCDS10098.1			1	
LCP2	0	LGGM	GRCh37	5	169680126	169680126	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	7	3	.	.	ENST00000046794.5:c.1242A>T	p.Glu414Asp	p.E414D	ENST00000046794	NM_005565.3	414	gaA/gaT	0	1	1	UPI000012E2AE	0	NA	ENST00000046794		ENSG00000043462	6529		10	0.6		HGNC	p.E414D		LCP2		SNV							ENST00000046794	protein_coding	getma.org/?cm=var&var=hg19,5,169680126,T,A&fts=all		hmmpanther:PTHR14098,hmmpanther:PTHR14098:SF1,Superfamily_domains:SSF55550		E/D		A	neutral	1858/4678		getma.org/?cm=msa&ty=f&p=LCP2_HUMAN&rb=277&re=421&var=E414D	tolerated(1)				YES	LCP2,missense_variant,p.Glu414Asp,ENST00000046794,NM_005565.3;LCP2,missense_variant,p.Glu209Asp,ENST00000521416,;LCP2,downstream_gene_variant,,ENST00000520344,;C5orf58,downstream_gene_variant,,ENST00000517575,;LCP2,upstream_gene_variant,,ENST00000520322,;C5orf58,downstream_gene_variant,,ENST00000524171,;LCP2,downstream_gene_variant,,ENST00000523369,;							MODERATE	1242/1602	E414D	LCP2_HUMAN			Transcript		benign(0.004)	.	ENSP00000046794		CCDS47339.1			1	
TRRAP	0	LGGM	GRCh37	7	98529032	98529032	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	15	4	.	.	ENST00000359863.4:c.3596C>G	p.Ser1199Cys	p.S1199C	ENST00000359863	NM_001244580.1	1199	tCc/tGc	0	1	1	UPI00004575B4	0	NA	ENST00000359863		ENSG00000196367	12347		19	1.965		HGNC	p.S1199C		TRRAP		SNV							ENST00000359863	protein_coding	getma.org/?cm=var&var=hg19,7,98529032,C,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		S/C		G	medium	3805/12677		getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=1001&re=1200&var=S1199C		C9K0N1_HUMAN			YES	TRRAP,missense_variant,p.Ser1199Cys,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Ser1199Cys,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Ser1198Cys,ENST00000446306,;TRRAP,missense_variant,p.Ser914Cys,ENST00000456197,;							MODERATE	3596/11580	S1199C	TRRAP_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000352925		CCDS59066.1			1	
PRPH	0	LGGM	GRCh37	12	49691769	49691769	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	35	4	.	.	ENST00000257860.4:c.1296C>A	p.Ser432Arg	p.S432R	ENST00000257860	NM_006262.3	432	agC/agA	0	1	1	UPI000013CF92	0	NA	ENST00000257860		ENSG00000135406	9461		39	1.095		HGNC	p.S432R		PRPH		SNV			1				ENST00000257860	protein_coding	getma.org/?cm=var&var=hg19,12,49691769,C,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF29		S/R		A	low	2795/3241		getma.org/?cm=msa&ty=f&p=PERI_HUMAN&rb=407&re=470&var=S432R	tolerated(0.21)				YES	PRPH,missense_variant,p.Ser432Arg,ENST00000257860,NM_006262.3;PRPH,missense_variant,p.Ser161Arg,ENST00000532332,;PRPH,downstream_gene_variant,,ENST00000451891,;RP11-161H23.9,intron_variant,,ENST00000553259,;PRPH,downstream_gene_variant,,ENST00000551194,;PRPH,non_coding_transcript_exon_variant,,ENST00000530631,;PRPH,downstream_gene_variant,,ENST00000533401,;PRPH,downstream_gene_variant,,ENST00000537252,;							MODERATE	1296/1413	S432R	PERI_HUMAN			Transcript		benign(0.004)	.	ENSP00000257860		CCDS8783.1			1	
USP40	0	LGGM	GRCh37	2	234460162	234460162	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	88	4	.	.	ENST00000450966.1:c.733G>A	p.Ala245Thr	p.A245T	ENST00000450966	NM_018218.2	245	Gcc/Acc	0	1		UPI00004C8020	0	getma.org/pdb.php?prot=UBP40_HUMAN&from=38&to=479&var=A233T	ENST00000251722		ENSG00000085982	20069		92	0.375		HGNC	p.A233T		USP40		SNV							ENST00000251722	protein_coding	getma.org/?cm=var&var=hg19,2,234460162,C,T&fts=all		Superfamily_domains:SSF54001,Gene3D:1nbfA02,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF423,PROSITE_profiles:PS50235		A/T		T	neutral	815/5692		getma.org/?cm=msa&ty=f&p=UBP40_HUMAN&rb=38&re=479&var=A233T	deleterious(0.01)					USP40,missense_variant,p.Ala233Thr,ENST00000251722,;USP40,missense_variant,p.Ala245Thr,ENST00000450966,NM_018218.2;USP40,missense_variant,p.Ala233Thr,ENST00000427112,;USP40,downstream_gene_variant,,ENST00000427947,;RP11-289A15.1,downstream_gene_variant,,ENST00000604535,;							MODERATE	697/3708	A233T	UBP40_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000251722					1	
HERC2	0	LGGM	GRCh37	15	28458903	28458903	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	20	4	.	.	ENST00000261609.7:c.6771G>A	p.Leu2257=	p.L2257=	ENST00000261609	NM_004667.5	2257	ttG/ttA	0	1	1	UPI00004578F7	0		ENST00000261609		ENSG00000128731	4868		24			HGNC	p.L2257L		HERC2		SNV			1				ENST00000261609	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308		L		T		6880/15337							YES	HERC2,synonymous_variant,p.=,ENST00000261609,NM_004667.5;							LOW	6771/14505		HERC2_HUMAN			Transcript			.	ENSP00000261609		CCDS10021.1			1	
KIF19	0	LGGM	GRCh37	17	72341059	72341059	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	16	5	.	.	ENST00000389916.4:c.742A>T	p.Met248Leu	p.M248L	ENST00000389916	NM_153209.3	248	Atg/Ttg	0	1	1	UPI0000F0A553	0	getma.org/pdb.php?prot=KIF19_HUMAN&from=17&to=346&var=M248L	ENST00000389916		ENSG00000196169	26735		21	-1.625		HGNC	p.M248L		KIF19		SNV							ENST00000389916	protein_coding	getma.org/?cm=var&var=hg19,17,72341059,A,T&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_patterns:PS00411,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF402,SMART_domains:SM00129,Superfamily_domains:SSF52540		M/L		T	neutral	880/3643		getma.org/?cm=msa&ty=f&p=KIF19_HUMAN&rb=17&re=346&var=M248L	tolerated(0.06)				YES	KIF19,missense_variant,p.Met248Leu,ENST00000389916,NM_153209.3;KIF19,missense_variant,p.Met206Leu,ENST00000551294,;KIF19,non_coding_transcript_exon_variant,,ENST00000547389,;KIF19,non_coding_transcript_exon_variant,,ENST00000359939,;KIF19,upstream_gene_variant,,ENST00000549637,;							MODERATE	742/2997	M248L	KIF19_HUMAN			Transcript		benign(0.074)	.	ENSP00000374566		CCDS32718.2			1	
JPH4	0	LGGM	GRCh37	14	24040172	24040172	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	4	5	.	.	ENST00000397118.3:c.1768G>T	p.Gly590Trp	p.G590W	ENST00000397118	NM_032452.2	590	Ggg/Tgg	0	1		UPI00001C1F68	0	NA	ENST00000356300		ENSG00000092051	20156		9	0		HGNC	p.G590W		JPH4		SNV							ENST00000397118	protein_coding	getma.org/?cm=var&var=hg19,14,24040172,C,A&fts=all		hmmpanther:PTHR23085,hmmpanther:PTHR23085:SF14,PIRSF_domain:PIRSF037387		G/W		A	neutral	2560/4278		getma.org/?cm=msa&ty=f&p=JPH4_HUMAN&rb=528&re=628&var=G590W	deleterious(0.02)					JPH4,missense_variant,p.Gly590Trp,ENST00000397118,NM_032452.2;JPH4,missense_variant,p.Gly590Trp,ENST00000356300,NM_001146028.1;JPH4,missense_variant,p.Gly255Trp,ENST00000544177,;AP1G2,upstream_gene_variant,,ENST00000308724,NM_003917.2;AP1G2,upstream_gene_variant,,ENST00000397120,;AP1G2,upstream_gene_variant,,ENST00000557189,;AP1G2,upstream_gene_variant,,ENST00000556843,;RP11-66N24.3,downstream_gene_variant,,ENST00000555968,;AP1G2,upstream_gene_variant,,ENST00000556277,;AP1G2,upstream_gene_variant,,ENST00000460049,;AP1G2,upstream_gene_variant,,ENST00000465445,;AP1G2,upstream_gene_variant,,ENST00000535852,;JPH4,downstream_gene_variant,,ENST00000553505,;AP1G2,upstream_gene_variant,,ENST00000556743,;AP1G2,upstream_gene_variant,,ENST00000553629,;AP1G2,upstream_gene_variant,,ENST00000557619,;AP1G2,upstream_gene_variant,,ENST00000555896,;AP1G2,upstream_gene_variant,,ENST00000554069,;AP1G2,upstream_gene_variant,,ENST00000556943,;AP1G2,upstream_gene_variant,,ENST00000557482,;AP1G2,upstream_gene_variant,,ENST00000553756,;AP1G2,upstream_gene_variant,,ENST00000554312,;AP1G2,upstream_gene_variant,,ENST00000553685,;AP1G2,upstream_gene_variant,,ENST00000554816,;							MODERATE	1768/1887	G590W	JPH4_HUMAN			Transcript		benign(0.017)	.	ENSP00000348648		CCDS9603.1			1	
DOCK9	0	LGGM	GRCh37	13	99459926	99459926	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	144	5	.	.	ENST00000376460.1:c.5545G>C	p.Asp1849His	p.D1849H	ENST00000376460	NM_015296.2	1849	Gat/Cat	0	1	1	UPI000046FD7F	0	getma.org/pdb.php?prot=DOCK9_HUMAN&from=1505&to=2060&var=D1850H	ENST00000376460		ENSG00000088387	14132		149	3.395		HGNC	p.D1849H		DOCK9		SNV							ENST00000376460	protein_coding	getma.org/?cm=var&var=hg19,13,99459926,C,G&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77,PROSITE_profiles:PS51651		D/H		G	medium	5626/7549		getma.org/?cm=msa&ty=f&p=DOCK9_HUMAN&rb=1505&re=2060&var=D1850H	deleterious(0)				YES	DOCK9,missense_variant,p.Asp1849His,ENST00000376460,NM_015296.2,NM_001130048.1;DOCK9,missense_variant,p.Asp1836His,ENST00000339416,;DOCK9,missense_variant,p.Asp412His,ENST00000400228,;DOCK9,missense_variant,p.Asp253His,ENST00000419908,;DOCK9,missense_variant,p.Asp200His,ENST00000451563,;DOCK9,downstream_gene_variant,,ENST00000448493,;DOCK9,downstream_gene_variant,,ENST00000340449,;DOCK9,downstream_gene_variant,,ENST00000481051,;							MODERATE	5545/6207	D1850H	DOCK9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000365643		CCDS45062.1			1	
FZD8	0	LGGM	GRCh37	10	35928826	35928826	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	23	5	.	.	ENST00000374694.1:c.1532G>A	p.Arg511His	p.R511H	ENST00000374694	NM_031866.2	511	cGc/cAc	0	1	1	UPI0000047F3B	0	NA	ENST00000374694		ENSG00000177283	4046		28	3.18		HGNC	p.R511H		FZD8		SNV							ENST00000374694	protein_coding	getma.org/?cm=var&var=hg19,10,35928826,C,T&fts=all		Pfam_domain:PF01534,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF77		R/H		T	medium	1537/3186		getma.org/?cm=msa&ty=f&p=FZD8_HUMAN&rb=267&re=623&var=R511H	deleterious(0.02)				YES	FZD8,missense_variant,p.Arg511His,ENST00000374694,NM_031866.2;MIR4683,downstream_gene_variant,,ENST00000579659,;							MODERATE	1532/2085	R511H	FZD8_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000363826		CCDS7192.1			1	
MUC8	0	LGGM	GRCh37	12	133050630	133050630	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	7	6	.	.	ENST00000595994.1:c.97T>C	p.Ser33Pro	p.S33P	ENST00000595994		33	Tcc/Ccc	0	1	1	UPI00015DFFBC	0		ENST00000595994		ENSG00000269676	7519	0.0714	13			HGNC	p.S33P	rs368109381,COSM4146891	MUC8	0.0526	SNV				0.125		0,1	ENST00000595994	protein_coding					S/P		G		97/927	0.0343		tolerated_low_confidence(0.25)	M0R3A3_HUMAN			YES	MUC8,missense_variant,p.Ser33Pro,ENST00000595994,;					0,1		MODERATE	97/927			0.0023		Transcript		benign(0)	common_variant	ENSP00000473092	0.00763				1	
DMXL2	0	LGGM	GRCh37	15	51791033	51791033	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	78	6	.	.	ENST00000543779.2:c.4388A>T	p.Gln1463Leu	p.Q1463L	ENST00000543779		1463	cAa/cTa	0	1		UPI000013CCDD	0	NA	ENST00000251076		ENSG00000104093	2938		84	-0.69		HGNC	p.Q1463L		DMXL2		SNV							ENST00000543779	protein_coding	getma.org/?cm=var&var=hg19,15,51791033,T,A&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11		Q/L		A	neutral	4676/10672		getma.org/?cm=msa&ty=f&p=DMXL2_HUMAN&rb=1445&re=1904&var=Q1463L	tolerated(0.35)					DMXL2,missense_variant,p.Gln1463Leu,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,missense_variant,p.Gln1463Leu,ENST00000543779,;DMXL2,intron_variant,,ENST00000449909,NM_001174117.1;RP11-707P17.1,downstream_gene_variant,,ENST00000561007,;							MODERATE	4388/9111	Q1463L	DMXL2_HUMAN			Transcript		benign(0.063)	.	ENSP00000251076		CCDS10141.1			1	
HNF4A	0	LGGM	GRCh37	20	43042351	43042351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	23	6	.	.	ENST00000316099.4:c.403G>A	p.Asp135Asn	p.D135N	ENST00000316099	NM_001258355.1	135	Gac/Aac	0	1	1	UPI000016A0BA	0	NA	ENST00000316099		ENSG00000101076	5024		29	2.76		HGNC	p.D113N	COSM3546852,COSM3546854,COSM3546853	HNF4A		SNV			1			1,1,1	ENST00000316673	protein_coding	getma.org/?cm=var&var=hg19,20,43042351,G,A&fts=all		Gene3D:3.30.50.10,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF41,Superfamily_domains:SSF48508,Superfamily_domains:SSF57716		D/N		A	medium	492/4694		getma.org/?cm=msa&ty=f&p=HNF4A_HUMAN&rb=128&re=165&var=D135N	deleterious(0)	F1D8T1_HUMAN			YES	HNF4A,missense_variant,p.Asp135Asn,ENST00000316099,NM_001258355.1,NM_178849.2,NM_000457.4,NM_001287183.1;HNF4A,missense_variant,p.Asp135Asn,ENST00000415691,;HNF4A,missense_variant,p.Asp135Asn,ENST00000443598,NM_178850.2;HNF4A,missense_variant,p.Asp113Asn,ENST00000316673,;HNF4A,missense_variant,p.Asp113Asn,ENST00000457232,NM_175914.4,NM_001030003.2;HNF4A,missense_variant,p.Asp113Asn,ENST00000609795,NM_001030004.2;HNF4A,3_prime_UTR_variant,,ENST00000372920,;					1,1,1		MODERATE	403/1425	D135N	HNF4A_HUMAN			Transcript		benign(0.388)	.	ENSP00000312987		CCDS13330.1			1	
MUC2	0	LGGM	GRCh37	11	1080556	1080556	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	12	6	.	.	ENST00000441003.2:c.1198A>T	p.Thr400Ser	p.T400S	ENST00000441003	NM_002457.2	400	Acc/Tcc	0	1	1	UPI00006C10F2	0	NA	ENST00000441003		ENSG00000198788	7512		18	1.03		HGNC	p.T400S		MUC2		SNV							ENST00000441003	protein_coding	getma.org/?cm=var&var=hg19,11,1080556,A,T&fts=all		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216,SMART_domains:SM00215		T/S		T	low	1225/8637		getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=391&re=545&var=T400S		Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Thr400Ser,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Thr400Ser,ENST00000359061,;							MODERATE	1198/8454	T400S				Transcript		possibly_damaging(0.617)	.	ENSP00000415183					1	
GPR27	0	LGGM	GRCh37	3	71804059	71804059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	9	7	.	.	ENST00000304411.2:c.859T>C	p.Tyr287His	p.Y287H	ENST00000304411	NM_018971.1	287	Tac/Cac	0	1	1	UPI0000049802	0	getma.org/pdb.php?prot=GPR27_HUMAN&from=35&to=337&var=Y287H	ENST00000304411		ENSG00000170837	4482		16	2.44		HGNC	p.Y287H		GPR27		SNV							ENST00000304411	protein_coding	getma.org/?cm=var&var=hg19,3,71804059,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/H		C	medium	859/2447		getma.org/?cm=msa&ty=f&p=GPR27_HUMAN&rb=35&re=337&var=Y287H	deleterious(0)	F1DAM3_HUMAN			YES	GPR27,missense_variant,p.Tyr287His,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,;							MODERATE	859/1128	Y287H	GPR27_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000303149		CCDS2915.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33605044	33605044	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	11	7	.	.	ENST00000321505.4:c.3672A>G	p.Ala1224=	p.A1224=	ENST00000321505		1224	gcA/gcG	0	1	1	UPI0000E59322	0		ENST00000321505		ENSG00000110427	24836		18			HGNC	p.A1230A	rs780399688	KIAA1549L		SNV							ENST00000265654	protein_coding			Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		A		G		3852/11678							YES	KIAA1549L,synonymous_variant,p.=,ENST00000321505,;KIAA1549L,synonymous_variant,p.=,ENST00000389726,NM_012194.2;KIAA1549L,synonymous_variant,p.=,ENST00000265654,;KIAA1549L,synonymous_variant,p.=,ENST00000526400,;							LOW	3672/5550		K154L_HUMAN			Transcript			.	ENSP00000315295	8.36E-06	CCDS44565.2			1	
POM121L2	0	LGGM	GRCh37	6	27279636	27279636	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	24	7	.	.	ENST00000444565.1:c.314T>G	p.Ile105Ser	p.I105S	ENST00000444565	NM_033482.3	105	aTt/aGt	0	1	1	UPI0000198C27	0	NA	ENST00000444565		ENSG00000158553	13973		31	1.525		HGNC	p.I105S		POM121L2		SNV							ENST00000377451	protein_coding	getma.org/?cm=var&var=hg19,6,27279636,A,C&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF20		I/S		C	low	314/3108		getma.org/?cm=msa&ty=f&p=P12L2_HUMAN&rb=1&re=969&var=I105S	deleterious(0)	C9J1I7_HUMAN			YES	POM121L2,missense_variant,p.Ile105Ser,ENST00000444565,NM_033482.3;POM121L2,missense_variant,p.Ile105Ser,ENST00000377451,;POM121L2,upstream_gene_variant,,ENST00000429945,;							MODERATE	314/3108	I105S				Transcript		probably_damaging(0.943)	.	ENSP00000392726		CCDS59497.1			1	
TSHZ3	0	LGGM	GRCh37	19	31770376	31770376	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	27	8	.	.	ENST00000240587.4:c.323A>G	p.Asp108Gly	p.D108G	ENST00000240587	NM_020856.2	108	gAc/gGc	0	1	1	UPI0000202000	0	NA	ENST00000240587		ENSG00000121297	30700		35	0.895		HGNC	p.D108G		TSHZ3		SNV							ENST00000240587	protein_coding	getma.org/?cm=var&var=hg19,19,31770376,T,C&fts=all		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5		D/G		C	low	651/5176		getma.org/?cm=msa&ty=f&p=TSH3_HUMAN&rb=1&re=188&var=D108G	tolerated(0.9)	A1L0U7_HUMAN			YES	TSHZ3,missense_variant,p.Asp108Gly,ENST00000240587,NM_020856.2;TSHZ3,3_prime_UTR_variant,,ENST00000560707,;							MODERATE	323/3246	D108G	TSH3_HUMAN			Transcript		benign(0.036)	.	ENSP00000240587		CCDS12421.2			1	
KCNN3	0	LGGM	GRCh37	1	154698394	154698394	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	15	8	.	.	ENST00000271915.4:c.1699C>A	p.Arg567=	p.R567=	ENST00000271915	NM_001204087.1	567	Cgg/Agg	0	1	1	UPI000013D915	0		ENST00000271915		ENSG00000143603	6292		23			HGNC	p.R567R	rs372547701	KCNN3		SNV							ENST00000271915	protein_coding			hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153,Gene3D:1.10.287.70,Pfam_domain:PF02888,SMART_domains:SM01053,Superfamily_domains:SSF81327,Superfamily_domains:SSF81324		R		T		2015/13033				Q6JXY2_HUMAN			YES	KCNN3,splice_region_variant,p.=,ENST00000271915,NM_001204087.1,NM_002249.5;KCNN3,splice_region_variant,p.=,ENST00000361147,NM_170782.2;KCNN3,splice_region_variant,p.=,ENST00000358505,;	0.00107						LOW	1699/2196					Transcript			common_variant	ENSP00000271915	7.41E-05	CCDS30880.1			1	
ECE2	0	LGGM	GRCh37	3	184009985	184009985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	18	8	.	.	ENST00000402825.3:c.2611G>A	p.Gly871Ser	p.G871S	ENST00000402825	NM_014693.3	871	Ggc/Agc	0	1	1	UPI0001596888	0	getma.org/pdb.php?prot=ECE2_HUMAN&from=679&to=882&var=G871S	ENST00000402825		ENSG00000145194	13275		26	2.785		HGNC	p.G871S	rs749854216,COSM1421353,COSM1421352,COSM1421351	ECE2		SNV						0,1,1,1	ENST00000402825	protein_coding	getma.org/?cm=var&var=hg19,3,184009985,G,A&fts=all		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF122,Gene3D:3.40.390.10,Pfam_domain:PF01431,Superfamily_domains:SSF55486		G/S		A	medium	2611/3445	1.51E-05	getma.org/?cm=msa&ty=f&p=ECE2_HUMAN&rb=679&re=882&var=G871S	deleterious(0.04)				YES	ECE2,missense_variant,p.Gly871Ser,ENST00000402825,NM_014693.3;ECE2,missense_variant,p.Gly753Ser,ENST00000404464,NM_001100121.1,NM_001100120.1;ECE2,missense_variant,p.Gly724Ser,ENST00000359140,NM_001037324.2;ECE2,missense_variant,p.Gly799Ser,ENST00000357474,;EIF2B5,intron_variant,,ENST00000444495,;ECE2,downstream_gene_variant,,ENST00000430587,;ECE2,downstream_gene_variant,,ENST00000488401,;ECE2,downstream_gene_variant,,ENST00000490579,;					0,1,1,1		MODERATE	2611/2652	G871S	ECE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384223	8.24E-06	CCDS3256.2			1	
BBS4	0	LGGM	GRCh37	15	73029919	73029919	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	7	9	.	.	ENST00000268057.4:c.1551A>G	p.Arg517=	p.R517=	ENST00000268057	NM_033028.4	517	agA/agG	0	1	1	UPI000013D78E	0		ENST00000268057		ENSG00000140463	969		16			HGNC	p.R517R		BBS4		SNV			1				ENST00000268057	protein_coding					R		G		1592/2490							YES	BBS4,synonymous_variant,p.=,ENST00000268057,NM_033028.4;BBS4,synonymous_variant,p.=,ENST00000395205,;BBS4,synonymous_variant,p.=,ENST00000542334,NM_001252678.1;BBS4,synonymous_variant,p.=,ENST00000539603,;BBS4,downstream_gene_variant,,ENST00000566197,;BBS4,3_prime_UTR_variant,,ENST00000566400,;BBS4,3_prime_UTR_variant,,ENST00000567279,;BBS4,downstream_gene_variant,,ENST00000562084,;BBS4,downstream_gene_variant,,ENST00000562219,;BBS4,downstream_gene_variant,,ENST00000568535,;BBS4,downstream_gene_variant,,ENST00000569151,;							LOW	1551/1560		BBS4_HUMAN			Transcript			.	ENSP00000268057		CCDS10246.1			1	
WDR62	0	LGGM	GRCh37	19	36562596	36562596	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	25	9	.	.	ENST00000401500.2:c.1021G>A	p.Val341Met	p.V341M	ENST00000401500	NM_001083961.1	341	Gtg/Atg	0	1		UPI0000DBEE90	0	NA	ENST00000270301		ENSG00000075702	24502		34	2.305		HGNC	p.V341M	rs774044560	WDR62		SNV			1				ENST00000378860	protein_coding	getma.org/?cm=var&var=hg19,19,36562596,G,A&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF362		V/M		A	medium	1021/4632		getma.org/?cm=msa&ty=f&p=WDR62_HUMAN&rb=186&re=385&var=V341M	deleterious(0)					WDR62,missense_variant,p.Val341Met,ENST00000401500,NM_001083961.1,NM_173636.4;WDR62,missense_variant,p.Val341Met,ENST00000270301,;WDR62,missense_variant,p.Val341Met,ENST00000388999,;WDR62,downstream_gene_variant,,ENST00000427823,;WDR62,non_coding_transcript_exon_variant,,ENST00000378860,;WDR62,non_coding_transcript_exon_variant,,ENST00000589953,;WDR62,missense_variant,p.Val341Met,ENST00000587391,;							MODERATE	1021/4557	V341M	WDR62_HUMAN	0.000154		Transcript		probably_damaging(0.974)	.	ENSP00000270301	8.24E-06	CCDS33001.1			1	
STXBP2	0	LGGM	GRCh37	19	7709571	7709571	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	19	11	.	.	ENST00000221283.5:c.1179G>T	p.Leu393=	p.L393=	ENST00000221283	NM_006949.3	393	ctG/ctT	0	1	1	UPI000013C7B8	0		ENST00000221283		ENSG00000076944	11445		30			HGNC	p.L366L		STXBP2		SNV			1				ENST00000597068	protein_coding			hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF27,Gene3D:1.25.40.60,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815		L		T		1210/1876				R4GMY7_HUMAN,M0QZ54_HUMAN			YES	STXBP2,synonymous_variant,p.=,ENST00000441779,NM_001272034.1;STXBP2,synonymous_variant,p.=,ENST00000221283,NM_006949.3;STXBP2,synonymous_variant,p.=,ENST00000414284,NM_001127396.2;STXBP2,synonymous_variant,p.=,ENST00000600702,;STXBP2,upstream_gene_variant,,ENST00000602355,;STXBP2,downstream_gene_variant,,ENST00000595950,;STXBP2,downstream_gene_variant,,ENST00000593535,;STXBP2,synonymous_variant,p.=,ENST00000597068,;STXBP2,synonymous_variant,p.=,ENST00000599400,;STXBP2,3_prime_UTR_variant,,ENST00000599737,;STXBP2,non_coding_transcript_exon_variant,,ENST00000595800,;STXBP2,non_coding_transcript_exon_variant,,ENST00000593854,;STXBP2,non_coding_transcript_exon_variant,,ENST00000599558,;CTD-3214H19.4,downstream_gene_variant,,ENST00000595866,;STXBP2,downstream_gene_variant,,ENST00000594221,;STXBP2,upstream_gene_variant,,ENST00000601061,;STXBP2,downstream_gene_variant,,ENST00000595181,;CTD-3214H19.4,downstream_gene_variant,,ENST00000599243,;CTD-3214H19.4,downstream_gene_variant,,ENST00000598664,;STXBP2,downstream_gene_variant,,ENST00000599648,;STXBP2,downstream_gene_variant,,ENST00000595861,;STXBP2,upstream_gene_variant,,ENST00000599278,;							LOW	1179/1782		STXB2_HUMAN			Transcript			.	ENSP00000221283		CCDS12181.1			1	
TSC2	0	LGGM	GRCh37	16	2136760	2136760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	14	11	.	.	ENST00000219476.3:c.4877C>A	p.Pro1626His	p.P1626H	ENST00000219476	NM_000548.3	1626	cCc/cAc	0	1	1	UPI000013C781	0	getma.org/pdb.php?prot=TSC2_HUMAN&from=1561&to=1750&var=P1626H	ENST00000219476		ENSG00000103197	12363		25	3.235		HGNC	p.P1603H		TSC2		SNV			1				ENST00000350773	protein_coding	getma.org/?cm=var&var=hg19,16,2136760,C,A&fts=all		PROSITE_profiles:PS50085,hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF02145,Superfamily_domains:0043732		P/H		A	medium	5507/6156		getma.org/?cm=msa&ty=f&p=TSC2_HUMAN&rb=1561&re=1750&var=P1626H	deleterious(0)				YES	TSC2,missense_variant,p.Pro1626His,ENST00000219476,NM_000548.3;TSC2,missense_variant,p.Pro1603His,ENST00000350773,NM_001114382.1;TSC2,missense_variant,p.Pro1583His,ENST00000353929,;TSC2,missense_variant,p.Pro1570His,ENST00000568454,;TSC2,missense_variant,p.Pro1559His,ENST00000401874,NM_001077183.1;TSC2,missense_variant,p.Pro1523His,ENST00000439673,;TSC2,missense_variant,p.Pro1511His,ENST00000382538,;TSC2,missense_variant,p.Pro354His,ENST00000569110,;PKD1,downstream_gene_variant,,ENST00000262304,NM_001009944.2;PKD1,downstream_gene_variant,,ENST00000423118,NM_000296.3;MIR1225,downstream_gene_variant,,ENST00000408729,;RP11-304L19.1,upstream_gene_variant,,ENST00000570072,;RP11-304L19.1,upstream_gene_variant,,ENST00000563284,;TSC2,splice_region_variant,,ENST00000497886,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,non_coding_transcript_exon_variant,,ENST00000569930,;PKD1,downstream_gene_variant,,ENST00000487932,;PKD1,downstream_gene_variant,,ENST00000472577,;PKD1,downstream_gene_variant,,ENST00000485120,;PKD1,downstream_gene_variant,,ENST00000561668,;PKD1,downstream_gene_variant,,ENST00000564313,;							MODERATE	4877/5424	P1626H	TSC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219476		CCDS10458.1			1	
NPM2	0	LGGM	GRCh37	8	21883032	21883032	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	C	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	4	11	.	.	ENST00000397940.1:c.144G>C	p.Thr48=	p.T48=	ENST00000397940		48	acG/acC	0	1		UPI000019A1BE	0		ENST00000289820		ENSG00000158806	7930		15			HGNC	p.T48T		NPM2		SNV							ENST00000289820	protein_coding			Superfamily_domains:SSF69203,Gene3D:2.60.120.340,Pfam_domain:PF03066,hmmpanther:PTHR22747:SF14,hmmpanther:PTHR22747		T		C		384/1100				E5RGN1_HUMAN,E5RFQ8_HUMAN				NPM2,splice_region_variant,p.=,ENST00000397940,;NPM2,splice_region_variant,p.=,ENST00000521157,;NPM2,splice_region_variant,p.=,ENST00000518119,NM_001286680.1;NPM2,splice_region_variant,p.=,ENST00000289820,NM_182795.1;NPM2,splice_region_variant,p.=,ENST00000381530,NM_001286681.1;NPM2,splice_region_variant,p.=,ENST00000520125,;NPM2,splice_region_variant,p.=,ENST00000522813,;NPM2,splice_region_variant,,ENST00000520180,;							LOW	144/645		NPM2_HUMAN			Transcript			.	ENSP00000289820		CCDS6018.1			1	
RP1L1	0	LGGM	GRCh37	8	10466698	10466698	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	4	12	.	.	ENST00000382483.3:c.4910C>T	p.Pro1637Leu	p.P1637L	ENST00000382483	NM_178857.5	1637	cCa/cTa	0	1	1	UPI00001AF9CC	0	NA	ENST00000382483		ENSG00000183638	15946		16	0.46		HGNC	p.P1637L		RP1L1		SNV			1				ENST00000382483	protein_coding	getma.org/?cm=var&var=hg19,8,10466698,G,A&fts=all		hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005		P/L		A	neutral	5134/7973		getma.org/?cm=msa&ty=f&p=RP1L1_HUMAN&rb=963&re=1913&var=P1717L		A6NKC6_HUMAN			YES	RP1L1,missense_variant,p.Pro1637Leu,ENST00000382483,NM_178857.5;							MODERATE	4910/7203	P1717L				Transcript		unknown(0)	.	ENSP00000371923		CCDS43708.1			1	
DNAH5	0	LGGM	GRCh37	5	13717460	13717460	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	16	12	.	.	ENST00000265104.4:c.12669C>A	p.Phe4223Leu	p.F4223L	ENST00000265104	NM_001369.2	4223	ttC/ttA	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=3927&to=4622&var=F4223L	ENST00000265104		ENSG00000039139	2950		28	1.595		HGNC	p.F4223L		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13717460,G,T&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		F/L		T	low	12774/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3927&re=4622&var=F4223L		O95496_HUMAN			YES	DNAH5,missense_variant,p.Phe4223Leu,ENST00000265104,NM_001369.2;							MODERATE	12669/13875	F4223L	DYH5_HUMAN			Transcript		benign(0.418)	.	ENSP00000265104		CCDS3882.1			1	
PCBP2	0	LGGM	GRCh37	12	53865445	53865445	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	25	12	.	.	ENST00000359462.5:c.918T>G	p.Arg306=	p.R306=	ENST00000359462		306	cgT/cgG	0	1		UPI00001313C9	0		ENST00000439930		ENSG00000197111	8648		37			HGNC	p.R258R		PCBP2		SNV							ENST00000437231	protein_coding			PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF97,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		R		G		937/1296				H3BSP4_HUMAN,F8W0G4_HUMAN,F8VTZ0_HUMAN				PCBP2,synonymous_variant,p.=,ENST00000603815,NM_001128912.1,NM_001128911.1,NM_005016.5,NM_031989.4;PCBP2,synonymous_variant,p.=,ENST00000447282,NM_001128913.1,NM_001098620.2;PCBP2,synonymous_variant,p.=,ENST00000437231,NM_001128914.1;PCBP2,synonymous_variant,p.=,ENST00000455667,;PCBP2,synonymous_variant,p.=,ENST00000547859,;PCBP2,synonymous_variant,p.=,ENST00000359462,;PCBP2,synonymous_variant,p.=,ENST00000553064,;PCBP2,synonymous_variant,p.=,ENST00000359282,;PCBP2,synonymous_variant,p.=,ENST00000549863,;PCBP2,synonymous_variant,p.=,ENST00000546463,;PCBP2,synonymous_variant,p.=,ENST00000552819,;PCBP2,synonymous_variant,p.=,ENST00000552296,;PCBP2,synonymous_variant,p.=,ENST00000439930,;PCBP2,synonymous_variant,p.=,ENST00000548933,;PCBP2,synonymous_variant,p.=,ENST00000562264,;PCBP2,downstream_gene_variant,,ENST00000541275,;PCBP2,3_prime_UTR_variant,,ENST00000550585,;PCBP2,non_coding_transcript_exon_variant,,ENST00000547048,;PCBP2,non_coding_transcript_exon_variant,,ENST00000550733,;RP11-793H13.8,downstream_gene_variant,,ENST00000547717,;PCBP2,downstream_gene_variant,,ENST00000546652,;PCBP2,downstream_gene_variant,,ENST00000547987,;PCBP2,downstream_gene_variant,,ENST00000549272,;							LOW	915/1098		PCBP2_HUMAN			Transcript			.	ENSP00000408949		CCDS44901.1			1	
DSCAML1	0	LGGM	GRCh37	11	117375705	117375705	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	24	13	.	.	ENST00000321322.6:c.2296G>A	p.Ala766Thr	p.A766T	ENST00000321322	NM_020693.2	766	Gct/Act	0	1	1	UPI00000726E2	0	getma.org/pdb.php?prot=DSCL1_HUMAN&from=690&to=785&var=A706T	ENST00000321322		ENSG00000177103	14656		37	-0.53		HGNC	p.A766T		DSCAML1		SNV							ENST00000321322	protein_coding	getma.org/?cm=var&var=hg19,11,117375705,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/T		T	neutral	2298/6899		getma.org/?cm=msa&ty=f&p=DSCL1_HUMAN&rb=690&re=785&var=A706T	tolerated(0.14)				YES	DSCAML1,missense_variant,p.Ala766Thr,ENST00000321322,NM_020693.2;DSCAML1,missense_variant,p.Ala496Thr,ENST00000527706,;							MODERATE	2296/6342	A706T	DSCL1_HUMAN			Transcript		benign(0.074)	.	ENSP00000315465		CCDS8384.1			1	
UBE2B	0	LGGM	GRCh37	5	133724055	133724055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	20	13	.	.	ENST00000265339.2:c.281A>G	p.Asn94Ser	p.N94S	ENST00000265339	NM_003337.2	94	aAt/aGt	0	1	1	UPI00000002A5	0	getma.org/pdb.php?prot=UBE2B_HUMAN&from=8&to=145&var=N94S	ENST00000265339		ENSG00000119048	12473		33	0.87		HGNC	p.N93S		UBE2B		SNV							ENST00000506787	protein_coding	getma.org/?cm=var&var=hg19,5,133724055,A,G&fts=all		PROSITE_profiles:PS50127,hmmpanther:PTHR24067:SF85,hmmpanther:PTHR24067,Pfam_domain:PF00179,Gene3D:3.10.110.10,SMART_domains:SM00212,Superfamily_domains:SSF54495		N/S		G	low	698/2515		getma.org/?cm=msa&ty=f&p=UBE2B_HUMAN&rb=8&re=145&var=N94S	tolerated(0.14)				YES	UBE2B,missense_variant,p.Asn94Ser,ENST00000265339,NM_003337.2;UBE2B,missense_variant,p.Asn83Ser,ENST00000507277,;UBE2B,missense_variant,p.Asn93Ser,ENST00000506787,;UBE2B,non_coding_transcript_exon_variant,,ENST00000499038,;UBE2B,intron_variant,,ENST00000511807,;UBE2B,3_prime_UTR_variant,,ENST00000510021,;UBE2B,non_coding_transcript_exon_variant,,ENST00000503080,;							MODERATE	281/459	N94S	UBE2B_HUMAN			Transcript		benign(0.005)	.	ENSP00000265339		CCDS4174.1			1	
TP53	0	LGGM	GRCh37	17	7578554	7578554	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	3	13	.	.	ENST00000269305.4:c.376T>C	p.Tyr126His	p.Y126H	ENST00000269305	NM_001126112.2	126	Tac/Cac	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y126H	ENST00000269305		ENSG00000141510	11998		16	3.12		HGNC	p.Y126H	TP53_g.12364T>C	TP53		SNV			1				ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578554,A,G&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/H		G	medium	566/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y126H	deleterious(0)	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			YES	TP53,missense_variant,p.Tyr126His,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr126His,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr126His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr126His,ENST00000445888,;TP53,missense_variant,p.Tyr126His,ENST00000359597,;TP53,missense_variant,p.Tyr126His,ENST00000413465,;TP53,missense_variant,p.Tyr126His,ENST00000508793,;TP53,missense_variant,p.Tyr126His,ENST00000503591,;TP53,missense_variant,p.Tyr33His,ENST00000514944,;TP53,splice_region_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000604348,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000505014,;TP53,non_coding_transcript_exon_variant,,ENST00000510385,;TP53,non_coding_transcript_exon_variant,,ENST00000504290,;TP53,non_coding_transcript_exon_variant,,ENST00000504937,;							MODERATE	376/1182	Y126H	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
SYMPK	0	LGGM	GRCh37	19	46351045	46351045	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	14	14	.	.	ENST00000245934.7:c.641A>T	p.Asp214Val	p.D214V	ENST00000245934	NM_004819.2	214	gAc/gTc	0	1	1	UPI00002026C0	0	getma.org/pdb.php?prot=SYMPK_HUMAN&from=117&to=354&var=D214V	ENST00000245934		ENSG00000125755	22935		28	1.7		HGNC	p.D214V		SYMPK		SNV							ENST00000245934	protein_coding	getma.org/?cm=var&var=hg19,19,46351045,T,A&fts=all		hmmpanther:PTHR15245,hmmpanther:PTHR15245:SF20,Pfam_domain:PF11935,Superfamily_domains:SSF48371		D/V		A	low	886/4195		getma.org/?cm=msa&ty=f&p=SYMPK_HUMAN&rb=117&re=354&var=D214V	deleterious(0.03)	M0R1C2_HUMAN,M0R180_HUMAN,M0R039_HUMAN,M0QXP5_HUMAN			YES	SYMPK,missense_variant,p.Asp214Val,ENST00000245934,NM_004819.2;SYMPK,downstream_gene_variant,,ENST00000594293,;SYMPK,downstream_gene_variant,,ENST00000598059,;SYMPK,downstream_gene_variant,,ENST00000602061,;SYMPK,upstream_gene_variant,,ENST00000596518,;SYMPK,upstream_gene_variant,,ENST00000593899,;SYMPK,missense_variant,p.Asp214Val,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,,ENST00000593959,;							MODERATE	641/3825	D214V	SYMPK_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000245934		CCDS12676.2			1	
NEK4	0	LGGM	GRCh37	3	52780830	52780830	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	51	15	.	.	ENST00000233027.5:c.1597T>C	p.Ser533Pro	p.S533P	ENST00000233027	NM_001193533.1	533	Tct/Cct	0	1	1	UPI000013C96A	0	NA	ENST00000233027		ENSG00000114904	11399		66	2.215		HGNC	p.S444P		NEK4		SNV							ENST00000535191	protein_coding	getma.org/?cm=var&var=hg19,3,52780830,A,G&fts=all		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF240		S/P		G	medium	1800/3722		getma.org/?cm=msa&ty=f&p=NEK4_HUMAN&rb=447&re=810&var=S533P	tolerated(0.05)				YES	NEK4,missense_variant,p.Ser533Pro,ENST00000233027,NM_001193533.1,NM_003157.4;NEK4,missense_variant,p.Ser487Pro,ENST00000383721,;NEK4,missense_variant,p.Ser444Pro,ENST00000535191,;NEK4,missense_variant,p.Ser444Pro,ENST00000461689,;NEK4,3_prime_UTR_variant,,ENST00000487068,;NEK4,upstream_gene_variant,,ENST00000493199,;							MODERATE	1597/2526	S533P	NEK4_HUMAN			Transcript		benign(0.26)	.	ENSP00000233027		CCDS2863.1			1	
FASN	0	LGGM	GRCh37	17	80044353	80044353	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	12	15	.	.	ENST00000306749.2:c.3509C>T	p.Pro1170Leu	p.P1170L	ENST00000306749	NM_004104.4	1170	cCc/cTc	0	1	1	UPI000013EB82	0	getma.org/pdb.php?prot=FAS_HUMAN&from=1133&to=1242&var=P1170L	ENST00000306749		ENSG00000169710	3594		27	0.895		HGNC	p.P1170L		FASN		SNV							ENST00000306749	protein_coding	getma.org/?cm=var&var=hg19,17,80044353,G,A&fts=all		hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227		P/L		A	low	3728/8560		getma.org/?cm=msa&ty=f&p=FAS_HUMAN&rb=1133&re=1242&var=P1170L	tolerated(0.17)				YES	FASN,missense_variant,p.Pro1170Leu,ENST00000306749,NM_004104.4;FASN,upstream_gene_variant,,ENST00000579758,;FASN,upstream_gene_variant,,ENST00000579410,;							MODERATE	3509/7536	P1170L	FAS_HUMAN			Transcript		benign(0.004)	.	ENSP00000304592		CCDS11801.1			1	
ATPAF2	0	LGGM	GRCh37	17	17921965	17921965	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	20	17	.	.	ENST00000474627.3:c.768C>G	p.Asp256Glu	p.D256E	ENST00000474627	NM_145691.3	256	gaC/gaG	0	1	1	UPI00000720DC	0	NA	ENST00000474627		ENSG00000171953	18802		37	2.28		HGNC	p.D256E		ATPAF2		SNV			1				ENST00000474627	protein_coding	getma.org/?cm=var&var=hg19,17,17921965,G,C&fts=all		Gene3D:2r31A02,hmmpanther:PTHR21013,Superfamily_domains:SSF160909		D/E		C	medium	923/1564		getma.org/?cm=msa&ty=f&p=ATPF2_HUMAN&rb=170&re=289&var=D256E	tolerated(0.14)	C9J2Q2_HUMAN			YES	ATPAF2,missense_variant,p.Asp256Glu,ENST00000474627,NM_145691.3;ATPAF2,missense_variant,p.Thr29Ser,ENST00000581698,;ATPAF2,intron_variant,,ENST00000585101,;LRRC48,downstream_gene_variant,,ENST00000313838,NM_001130090.1;LRRC48,downstream_gene_variant,,ENST00000399187,NM_031294.3;ATPAF2,downstream_gene_variant,,ENST00000444058,;ATPAF2,non_coding_transcript_exon_variant,,ENST00000469327,;LRRC48,downstream_gene_variant,,ENST00000583995,;ATPAF2,non_coding_transcript_exon_variant,,ENST00000496852,;ATPAF2,non_coding_transcript_exon_variant,,ENST00000467560,;ATPAF2,intron_variant,,ENST00000462733,;ATPAF2,intron_variant,,ENST00000584205,;LRRC48,downstream_gene_variant,,ENST00000490517,;ATPAF2,downstream_gene_variant,,ENST00000465337,;LRRC48,downstream_gene_variant,,ENST00000583171,;ATPAF2,downstream_gene_variant,,ENST00000488753,;LRRC48,downstream_gene_variant,,ENST00000577477,;							MODERATE	768/870	D256E	ATPF2_HUMAN			Transcript		benign(0.054)	.	ENSP00000417190		CCDS32585.1			1	
RUSC2	0	LGGM	GRCh37	9	35547093	35547093	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	5	17	.	.	ENST00000455600.1:c.575G>A	p.Arg192Gln	p.R192Q	ENST00000455600	NM_001135999.1	192	cGg/cAg	0	1		UPI00001C1EB0	0	NA	ENST00000361226		ENSG00000198853	23625		22	0.205		HGNC	p.R192Q	rs768077817	RUSC2	0.000123	SNV							ENST00000361226	protein_coding	getma.org/?cm=var&var=hg19,9,35547093,G,A&fts=all		hmmpanther:PTHR15591,hmmpanther:PTHR15591:SF14		R/Q		A	neutral	713/5199		getma.org/?cm=msa&ty=f&p=RUSC2_HUMAN&rb=1&re=242&var=R192Q	tolerated(0.19)					RUSC2,missense_variant,p.Arg192Gln,ENST00000455600,NM_001135999.1;RUSC2,missense_variant,p.Arg192Gln,ENST00000361226,NM_014806.2;RUSC2,non_coding_transcript_exon_variant,,ENST00000468041,;							MODERATE	575/4551	R192Q	RUSC2_HUMAN			Transcript		benign(0.004)	.	ENSP00000355177	1.65E-05	CCDS35008.1			1	
POMP	0	LGGM	GRCh37	13	29236626	29236626	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	28	18	.	.	ENST00000380842.4:c.83A>T	p.His28Leu	p.H28L	ENST00000380842	NM_015932.5	28	cAt/cTt	0	1	1	UPI000006E3C4	0	NA	ENST00000380842		ENSG00000132963	20330		46	2.71		HGNC	p.H28L		POMP		SNV			1				ENST00000380842	protein_coding	getma.org/?cm=var&var=hg19,13,29236626,A,T&fts=all		Pfam_domain:PF05348,hmmpanther:PTHR12828,hmmpanther:PTHR12828:SF3		H/L		T	medium	164/1330		getma.org/?cm=msa&ty=f&p=POMP_HUMAN&rb=13&re=140&var=H28L	tolerated(0.06)				YES	POMP,missense_variant,p.His28Leu,ENST00000380842,NM_015932.5;POMP,non_coding_transcript_exon_variant,,ENST00000460403,;							MODERATE	83/426	H28L	POMP_HUMAN			Transcript		benign(0.261)	.	ENSP00000370222		CCDS9331.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33628265	33628265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	28	19	.	.	ENST00000321505.4:c.4067C>A	p.Ser1356Tyr	p.S1356Y	ENST00000321505		1356	tCt/tAt	0	1	1	UPI0000E59322	0	NA	ENST00000321505		ENSG00000110427	24836		47	2.015		HGNC	p.S1362Y		KIAA1549L		SNV							ENST00000389726	protein_coding	getma.org/?cm=var&var=hg19,11,33628265,C,A&fts=all		Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		S/Y		A	medium	4247/11678		getma.org/?cm=msa&ty=f&p=CK041_HUMAN&rb=930&re=1569&var=S1356Y	deleterious(0.03)				YES	KIAA1549L,missense_variant,p.Ser1356Tyr,ENST00000321505,;KIAA1549L,missense_variant,p.Ser1362Tyr,ENST00000389726,NM_012194.2;KIAA1549L,missense_variant,p.Ser754Tyr,ENST00000526400,;							MODERATE	4067/5550	S1356Y	K154L_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000315295		CCDS44565.2			1	
IGSF11	0	LGGM	GRCh37	3	118621419	118621419	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	64	19	.	.	ENST00000393775.2:c.1244G>A	p.Gly415Asp	p.G415D	ENST00000393775	NM_001015887.1	415	gGt/gAt	0	1	1	UPI000013D9B3	0	NA	ENST00000393775		ENSG00000144847	16669		83	1.385		HGNC	p.G387D		IGSF11		SNV							ENST00000491903	protein_coding	getma.org/?cm=var&var=hg19,3,118621419,C,T&fts=all		hmmpanther:PTHR12231:SF74,hmmpanther:PTHR12231		G/D		T	low	1550/3495		getma.org/?cm=msa&ty=f&p=IGS11_HUMAN&rb=220&re=419&var=G415D	deleterious(0)	C9JAD3_HUMAN,C9IZX3_HUMAN			YES	IGSF11,missense_variant,p.Gly414Asp,ENST00000354673,NM_152538.2;IGSF11,missense_variant,p.Gly414Asp,ENST00000425327,;IGSF11,missense_variant,p.Gly415Asp,ENST00000393775,NM_001015887.1;IGSF11,missense_variant,p.Gly391Asp,ENST00000489689,;IGSF11,missense_variant,p.Gly390Asp,ENST00000441144,;IGSF11,missense_variant,p.Gly387Asp,ENST00000491903,;							MODERATE	1244/1296	G415D	IGS11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377370		CCDS46891.1			1	
OR51B6	0	LGGM	GRCh37	11	5372931	5372931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	40	19	.	.	ENST00000380219.1:c.194C>A	p.Ala65Glu	p.A65E	ENST00000380219	NM_001004750.1	65	gCa/gAa	0	1	1	UPI000014017D	0	getma.org/pdb.php?prot=O51B6_HUMAN&from=1&to=137&var=A65E	ENST00000380219		ENSG00000176239	19600		59	4.21		HGNC	p.A65E		OR51B6		SNV							ENST00000380219	protein_coding	getma.org/?cm=var&var=hg19,11,5372931,C,A&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF22,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/E		A	high	194/939		getma.org/?cm=msa&ty=f&p=O51B6_HUMAN&rb=1&re=137&var=A65E	deleterious(0)				YES	OR51B6,missense_variant,p.Ala65Glu,ENST00000380219,NM_001004750.1;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,;AC104389.31,upstream_gene_variant,,ENST00000450768,;							MODERATE	194/939	A65E	O51B6_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000369568		CCDS31379.1			1	
LRRC4C	0	LGGM	GRCh37	11	40136431	40136431	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	31	19	.	.	ENST00000278198.2:c.1412C>T	p.Thr471Ile	p.T471I	ENST00000278198		471	aCc/aTc	0	1	1	UPI000000D9A7	0	NA	ENST00000278198		ENSG00000148948	29317		50	1.24		HGNC	p.T471I		LRRC4C		SNV							ENST00000528697	protein_coding	getma.org/?cm=var&var=hg19,11,40136431,G,A&fts=all		hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369		T/I		A	low	3376/4054		getma.org/?cm=msa&ty=f&p=LRC4C_HUMAN&rb=444&re=500&var=T471I	tolerated(0.21)	E9PLP4_HUMAN			YES	LRRC4C,missense_variant,p.Thr471Ile,ENST00000278198,;LRRC4C,missense_variant,p.Thr471Ile,ENST00000527150,;LRRC4C,missense_variant,p.Thr471Ile,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Thr471Ile,ENST00000528697,NM_001258419.1;LRRC4C,downstream_gene_variant,,ENST00000533474,;							MODERATE	1412/1923	T471I	LRC4C_HUMAN			Transcript		benign(0.007)	.	ENSP00000278198		CCDS31464.1			1	
MAST3	0	LGGM	GRCh37	19	18254651	18254651	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	39	19	.	.	ENST00000262811.6:c.2331C>T	p.Leu777=	p.L777=	ENST00000262811	NM_015016.1	777	ctC/ctT	0	1	1	UPI00001D8275	0		ENST00000262811		ENSG00000099308	19036		58			HGNC	p.L777L		MAST3		SNV							ENST00000262811	protein_coding			hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF140		L		T		2331/5896							YES	MAST3,synonymous_variant,p.=,ENST00000262811,NM_015016.1;AC007192.6,downstream_gene_variant,,ENST00000600364,;MAST3,upstream_gene_variant,,ENST00000609076,;MAST3,intron_variant,,ENST00000609494,;							LOW	2331/3930		MAST3_HUMAN			Transcript			.	ENSP00000262811		CCDS46014.1			1	
MCM3AP	0	LGGM	GRCh37	21	47674351	47674351	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	39	19	.	.	ENST00000397708.1:c.4091T>G	p.Leu1364Arg	p.L1364R	ENST00000397708		1364	cTg/cGg	0	1		UPI000012ED4A	0	NA	ENST00000291688		ENSG00000160294	6946		58	2.125		HGNC	p.L1364R		MCM3AP		SNV							ENST00000291688	protein_coding	getma.org/?cm=var&var=hg19,21,47674351,A,C&fts=all		hmmpanther:PTHR12436,hmmpanther:PTHR12436:SF18		L/R		C	medium	4127/6113		getma.org/?cm=msa&ty=f&p=MCM3A_HUMAN&rb=1311&re=1510&var=L1364R	deleterious(0)	N0GVG8_HUMAN,B3KWZ4_HUMAN				MCM3AP,missense_variant,p.Leu1364Arg,ENST00000397708,;MCM3AP,missense_variant,p.Leu1364Arg,ENST00000291688,NM_003906.3;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,downstream_gene_variant,,ENST00000414659,;MCM3AP-AS1,downstream_gene_variant,,ENST00000455567,;AP001469.9,upstream_gene_variant,,ENST00000430259,;AP001469.9,upstream_gene_variant,,ENST00000447037,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000467026,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000481113,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;MCM3AP,downstream_gene_variant,,ENST00000494755,;							MODERATE	4091/5943	L1364R	GANP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000291688		CCDS13734.1			1	
RBM15	0	LGGM	GRCh37	1	110883253	110883253	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	28	19	.	.	ENST00000369784.3:c.1226C>A	p.Ser409Tyr	p.S409Y	ENST00000369784	NM_022768.4	409	tCt/tAt	0	1	1	UPI000013E1C5	0	getma.org/pdb.php?prot=RBM15_HUMAN&from=376&to=445&var=S409Y	ENST00000369784		ENSG00000162775	14959		47	1.1		HGNC	p.S409Y		RBM15		SNV			1				ENST00000369784	protein_coding	getma.org/?cm=var&var=hg19,1,110883253,C,A&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF43,SMART_domains:SM00360,Superfamily_domains:SSF54928		S/Y		A	low	2126/4244		getma.org/?cm=msa&ty=f&p=RBM15_HUMAN&rb=376&re=445&var=S409Y	deleterious(0.01)				YES	RBM15,missense_variant,p.Ser409Tyr,ENST00000369784,NM_022768.4;RBM15,missense_variant,p.Ser409Tyr,ENST00000602849,;RBM15,missense_variant,p.Ser409Tyr,ENST00000487146,NM_001201545.1;RP5-1074L1.1,upstream_gene_variant,,ENST00000449169,;							MODERATE	1226/2934	S409Y	RBM15_HUMAN			Transcript		benign(0.378)	.	ENSP00000358799		CCDS822.1			1	
CCDC60	0	LGGM	GRCh37	12	119926648	119926648	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	71	20	.	.	ENST00000327554.2:c.534T>A	p.Pro178=	p.P178=	ENST00000327554	NM_178499.3	178	ccT/ccA	0	1	1	UPI000019906E	0		ENST00000327554		ENSG00000183273	28610		91			HGNC	p.P178P		CCDC60		SNV							ENST00000327554	protein_coding					P		A		999/2450				F5H5H4_HUMAN			YES	CCDC60,synonymous_variant,p.=,ENST00000327554,NM_178499.3;RP11-768F21.1,intron_variant,,ENST00000509470,;RP11-768F21.1,intron_variant,,ENST00000537366,;RP11-768F21.1,intron_variant,,ENST00000535511,;							LOW	534/1653		CCD60_HUMAN			Transcript			.	ENSP00000333374		CCDS9190.1			1	
KIAA1429	0	LGGM	GRCh37	8	95522838	95522838	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	42	21	.	.	ENST00000297591.5:c.3433A>C	p.Lys1145Gln	p.K1145Q	ENST00000297591	NM_015496.4	1145	Aaa/Caa	0	1	1	UPI00001BBB23	0	NA	ENST00000297591		ENSG00000164944	24500		63	1.43		HGNC	p.K1145Q		KIAA1429		SNV							ENST00000297591	protein_coding	getma.org/?cm=var&var=hg19,8,95522838,T,G&fts=all		hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185,Superfamily_domains:SSF48371		K/Q		G	low	3509/6528		getma.org/?cm=msa&ty=f&p=VIR_HUMAN&rb=1090&re=1289&var=K1145Q	deleterious(0.01)				YES	KIAA1429,missense_variant,p.Lys1145Gln,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.Lys1145Gln,ENST00000437199,;KIAA1429,downstream_gene_variant,,ENST00000421249,NM_183009.2;KIAA1429,intron_variant,,ENST00000523405,;KIAA1429,missense_variant,p.Lys498Gln,ENST00000522263,;KIAA1429,non_coding_transcript_exon_variant,,ENST00000521080,;							MODERATE	3433/5439	K1145Q	VIR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000297591		CCDS34923.1			1	
ZNF354B	0	LGGM	GRCh37	5	178310570	178310570	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	21	22	.	.	ENST00000322434.3:c.1117C>G	p.Gln373Glu	p.Q373E	ENST00000322434	NM_058230.2	373	Cag/Gag	0	1	1	UPI0000071A24	0	getma.org/pdb.php?prot=Z354B_HUMAN&from=368&to=393&var=Q373E	ENST00000322434		ENSG00000178338	17197		43	0.355		HGNC	p.Q373E		ZNF354B		SNV							ENST00000322434	protein_coding	getma.org/?cm=var&var=hg19,5,178310570,C,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/E		G	neutral	1343/2802		getma.org/?cm=msa&ty=f&p=Z354B_HUMAN&rb=348&re=413&var=Q373E	deleterious(0.02)	E5RH89_HUMAN			YES	ZNF354B,missense_variant,p.Gln373Glu,ENST00000322434,NM_058230.2;ZNF354B,downstream_gene_variant,,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;							MODERATE	1117/1839	Q373E	Z354B_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000327143		CCDS4439.1			1	
MBOAT7	0	LGGM	GRCh37	19	54677932	54677932	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	51	22	.	.	ENST00000245615.1:c.1225T>C	p.Tyr409His	p.Y409H	ENST00000245615	NM_024298.3	409	Tac/Cac	0	1	1	UPI000013CBAC	0	NA	ENST00000245615		ENSG00000125505	15505		73	2.56		HGNC	p.Y336H		MBOAT7		SNV							ENST00000338624	protein_coding	getma.org/?cm=var&var=hg19,19,54677932,A,G&fts=all		Pfam_domain:PF03062,hmmpanther:PTHR13906,hmmpanther:PTHR13906:SF8		Y/H		G	medium	1706/2529		getma.org/?cm=msa&ty=f&p=MBOA7_HUMAN&rb=72&re=419&var=Y409H	deleterious(0)	C9J4E9_HUMAN,A9C4B8_HUMAN			YES	MBOAT7,missense_variant,p.Tyr409His,ENST00000245615,NM_024298.3;MBOAT7,missense_variant,p.Tyr336His,ENST00000431666,NM_001146083.1;MBOAT7,missense_variant,p.Tyr336His,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,;							MODERATE	1225/1419	Y409H	MBOA7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000245615		CCDS12883.1			1	
PCDH10	0	LGGM	GRCh37	4	134071395	134071395	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	22	22	.	.	ENST00000264360.5:c.100G>A	p.Val34Met	p.V34M	ENST00000264360	NM_032961.1	34	Gtg/Atg	0	1	1	UPI0000161C61	0	getma.org/pdb.php?prot=PCD10_HUMAN&from=18&to=101&var=V34M	ENST00000264360		ENSG00000138650	13404		44	3.875		HGNC	p.V34M	COSM204398	PCDH10		SNV						1	ENST00000264360	protein_coding	getma.org/?cm=var&var=hg19,4,134071395,G,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028		V/M		A	high	926/8399		getma.org/?cm=msa&ty=f&p=PCD10_HUMAN&rb=18&re=101&var=V34M	deleterious(0)	Q9NSR3_HUMAN			YES	PCDH10,missense_variant,p.Val34Met,ENST00000264360,NM_032961.1;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;					1		MODERATE	100/3123	V34M	PCD10_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264360		CCDS34063.1			1	
TUBA3D	0	LGGM	GRCh37	2	132240180	132240180	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	42	23	.	.	ENST00000321253.6:c.1112T>C	p.Val371Ala	p.V371A	ENST00000321253	NM_080386.3	371	gTg/gCg	0	1	1	UPI0000027DB1	0	getma.org/pdb.php?prot=TBA3C_HUMAN&from=263&to=393&var=V371A	ENST00000321253		ENSG00000075886	24071		65	2.555		HGNC	p.V371A		TUBA3D		SNV							ENST00000321253	protein_coding	getma.org/?cm=var&var=hg19,2,132240180,T,C&fts=all		Gene3D:3.30.1330.20,Pfam_domain:PF03953,Prints_domain:PR01162,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,SMART_domains:SM00865,Superfamily_domains:SSF55307		V/A		C	medium	1219/1546		getma.org/?cm=msa&ty=f&p=TBA3C_HUMAN&rb=263&re=393&var=V371A	deleterious_low_confidence(0.02)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN			YES	TUBA3D,missense_variant,p.Val371Ala,ENST00000321253,NM_080386.3;MZT2A,downstream_gene_variant,,ENST00000309451,NM_001085365.1;TUBA3D,downstream_gene_variant,,ENST00000409047,;MZT2A,downstream_gene_variant,,ENST00000410036,;MZT2A,downstream_gene_variant,,ENST00000488586,;MZT2A,intron_variant,,ENST00000445782,;MZT2A,intron_variant,,ENST00000427024,;							MODERATE	1112/1353	V371A	TBA3C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000326042		CCDS33290.1			1	
C6orf99	0	LGGM	GRCh37	6	159331105	159331105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	75	23	.	.	ENST00000367072.1:c.238G>A	p.Ala80Thr	p.A80T	ENST00000367072	NM_001195032.1	80	Gca/Aca	0	1	1	UPI00001D814A	0	NA	ENST00000367072		ENSG00000203711	21179		98	0		HGNC	p.A157T	rs747575954	C6orf99	0.00013	SNV							ENST00000367073	protein_coding	getma.org/?cm=var&var=hg19,6,159331105,G,A&fts=all				A/T		A	neutral	280/464		getma.org/?cm=msa&ty=f&p=CF099_HUMAN&rb=1&re=200&var=A157T	deleterious_low_confidence(0.05)				YES	C6orf99,missense_variant,p.Ala111Thr,ENST00000367073,;C6orf99,missense_variant,p.Ala157Thr,ENST00000608817,;C6orf99,missense_variant,p.Ala80Thr,ENST00000367072,NM_001195032.1;C6orf99,non_coding_transcript_exon_variant,,ENST00000486232,;							MODERATE	238/378	A157T	CF099_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000356039	4.61E-05	CCDS55073.1			1	
ESRP2	0	LGGM	GRCh37	16	68264338	68264338	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	32	24	.	.	ENST00000473183.2:c.2018A>T	p.Tyr673Phe	p.Y673F	ENST00000473183		673	tAc/tTc	0	1		UPI0000070326	0	NA	ENST00000565858		ENSG00000103067	26152		56	1.455		HGNC	p.Y683F		ESRP2		SNV							ENST00000565858	protein_coding	getma.org/?cm=var&var=hg19,16,68264338,T,A&fts=all		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF30		Y/F		A	low	2135/3386		getma.org/?cm=msa&ty=f&p=ESRP2_HUMAN&rb=550&re=727&var=Y683F	tolerated(0.15)	J3QQJ9_HUMAN,J3KRF2_HUMAN				ESRP2,missense_variant,p.Tyr673Phe,ENST00000473183,;ESRP2,missense_variant,p.Tyr683Phe,ENST00000565858,NM_024939.2;NFATC3,downstream_gene_variant,,ENST00000349223,NM_173163.2;NFATC3,downstream_gene_variant,,ENST00000329524,NM_004555.3;NFATC3,downstream_gene_variant,,ENST00000346183,NM_173165.2;NFATC3,downstream_gene_variant,,ENST00000562926,;NFATC3,downstream_gene_variant,,ENST00000570212,;ESRP2,downstream_gene_variant,,ENST00000564382,;ESRP2,downstream_gene_variant,,ENST00000562724,;RP11-96D1.11,upstream_gene_variant,,ENST00000571197,;RP11-96D1.10,downstream_gene_variant,,ENST00000571975,;NFATC3,downstream_gene_variant,,ENST00000535127,;NFATC3,downstream_gene_variant,,ENST00000563319,;NFATC3,downstream_gene_variant,,ENST00000566301,;NFATC3,downstream_gene_variant,,ENST00000563288,;NFATC3,downstream_gene_variant,,ENST00000563796,;NFATC3,downstream_gene_variant,,ENST00000569766,;NFATC3,downstream_gene_variant,,ENST00000567152,;ESRP2,3_prime_UTR_variant,,ENST00000566774,;ESRP2,non_coding_transcript_exon_variant,,ENST00000251366,;ESRP2,downstream_gene_variant,,ENST00000562567,;ESRP2,downstream_gene_variant,,ENST00000564465,;ESRP2,downstream_gene_variant,,ENST00000563159,;ESRP2,downstream_gene_variant,,ENST00000562738,;ESRP2,downstream_gene_variant,,ENST00000569964,;ESRP2,downstream_gene_variant,,ENST00000565213,;							MODERATE	2048/2184	Y683F	ESRP2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000454554					1	
ABI1	0	LGGM	GRCh37	10	27149692	27149692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	39	24	.	.	ENST00000376142.2:c.101A>T	p.Glu34Val	p.E34V	ENST00000376142	NM_005470.3	34	gAa/gTa	0	1	1	UPI000006EA57	0	getma.org/pdb.php?prot=ABI1_HUMAN&from=1&to=92&var=E34V	ENST00000376142		ENSG00000136754	11320		63	2.89		HGNC	p.E34V		ABI1		SNV							ENST00000359188	protein_coding	getma.org/?cm=var&var=hg19,10,27149692,T,A&fts=all		hmmpanther:PTHR10460:SF2,hmmpanther:PTHR10460		E/V		A	medium	173/3576		getma.org/?cm=msa&ty=f&p=ABI1_HUMAN&rb=1&re=92&var=E34V	deleterious(0.01)				YES	ABI1,missense_variant,p.Glu34Val,ENST00000355394,;ABI1,missense_variant,p.Glu34Val,ENST00000346832,NM_001178116.1;ABI1,missense_variant,p.Glu34Val,ENST00000376134,;ABI1,missense_variant,p.Glu34Val,ENST00000376142,NM_005470.3;ABI1,missense_variant,p.Glu34Val,ENST00000376139,NM_001012752.2;ABI1,missense_variant,p.Glu34Val,ENST00000376160,;ABI1,missense_variant,p.Glu34Val,ENST00000376138,NM_001012751.2,NM_001178123.1,NM_001178120.1;ABI1,missense_variant,p.Glu34Val,ENST00000359188,NM_001178122.1,NM_001012750.2,NM_001178119.1;ABI1,missense_variant,p.Glu34Val,ENST00000376137,;ABI1,missense_variant,p.Glu34Val,ENST00000376166,NM_001178121.1;ABI1,missense_variant,p.Glu34Val,ENST00000536334,NM_001178124.1;ABI1,missense_variant,p.Glu34Val,ENST00000376170,;ABI1,missense_variant,p.Glu34Val,ENST00000490841,NM_001178125.1;ABI1,missense_variant,p.Glu34Val,ENST00000376140,;							MODERATE	101/1527	E34V	ABI1_HUMAN			Transcript		possibly_damaging(0.782)	.	ENSP00000365312		CCDS7150.1			1	
SLCO1B3	0	LGGM	GRCh37	12	21036363	21036363	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	55	24	.	.	ENST00000381545.3:c.1509C>G	p.Asn503Lys	p.N503K	ENST00000381545	NM_019844.3	503	aaC/aaG	0	1		UPI000013544A	0	NA	ENST00000261196		ENSG00000111700	10961		79	3.12		HGNC	p.N503K		SLCO1B3		SNV			1				ENST00000553473	protein_coding	getma.org/?cm=var&var=hg19,12,21036363,C,G&fts=all		Superfamily_domains:SSF100895,Pfam_domain:PF07648,TIGRFAM_domain:TIGR00805,Gene3D:3.30.60.30,Pfam_domain:PF03137,hmmpanther:PTHR11388:SF89,hmmpanther:PTHR11388,PROSITE_profiles:PS51465,PROSITE_profiles:PS50850		N/K		G	medium	1635/2712		getma.org/?cm=msa&ty=f&p=SO1B3_HUMAN&rb=465&re=506&var=N503K	deleterious(0)	F5H8K0_HUMAN				SLCO1B3,missense_variant,p.Asn503Lys,ENST00000381545,NM_019844.3;SLCO1B3,missense_variant,p.Asn503Lys,ENST00000261196,;LST3,missense_variant,p.Asn503Lys,ENST00000540229,;SLCO1B3,missense_variant,p.Asn503Lys,ENST00000553473,;SLCO1B3,missense_variant,p.Asn327Lys,ENST00000544370,;LST3,intron_variant,,ENST00000381541,;SLCO1B7,intron_variant,,ENST00000554957,;							MODERATE	1509/2109	N503K	SO1B3_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000261196		CCDS8684.1			1	
OR51F1	0	LGGM	GRCh37	11	4790648	4790648	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	57	25	.	.	ENST00000343430.3:c.500C>T	p.Pro167Leu	p.P167L	ENST00000343430	NM_001004752.1	167	cCt/cTt	0	1		UPI000066D8E8	0	NA	ENST00000380383		ENSG00000188069	15196		82	0.895		HGNC	p.P174L	rs781353738	OR51F1		SNV							ENST00000380383	protein_coding	getma.org/?cm=var&var=hg19,11,4790648,G,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF186,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		P/L		A	low	521/960	1.50E-05	getma.org/?cm=msa&ty=f&p=O51F1_HUMAN&rb=149&re=294&var=P174L	deleterious(0.03)	A6NLW9_HUMAN				OR51F1,missense_variant,p.Pro174Leu,ENST00000380383,;OR51F1,missense_variant,p.Pro167Leu,ENST00000343430,NM_001004752.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	521/960	P174L	O51F1_HUMAN			Transcript		benign(0.022)	.	ENSP00000369744	8.24E-06				1	
CYP39A1	0	LGGM	GRCh37	6	46518140	46518140	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	25	25	.	.	ENST00000275016.2:c.1373A>C	p.Glu458Ala	p.E458A	ENST00000275016	NM_001278739.1	458	gAa/gCa	0	1	1	UPI000013DA3D	0	getma.org/pdb.php?prot=CP39A_HUMAN&from=29&to=463&var=E458A	ENST00000275016		ENSG00000146233	17449		50	1.31		HGNC	p.E458A		CYP39A1		SNV							ENST00000275016	protein_coding	getma.org/?cm=var&var=hg19,6,46518140,T,G&fts=all		hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264		E/A		G	low	1577/2176		getma.org/?cm=msa&ty=f&p=CP39A_HUMAN&rb=29&re=463&var=E458A	tolerated(0.5)				YES	CYP39A1,missense_variant,p.Glu458Ala,ENST00000275016,NM_001278739.1,NM_001278738.1,NM_016593.4;							MODERATE	1373/1410	E458A	CP39A_HUMAN			Transcript		benign(0.02)	.	ENSP00000275016		CCDS4916.1			1	
E2F8	0	LGGM	GRCh37	11	19258921	19258921	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	39	26	.	.	ENST00000527884.1:c.391A>G	p.Asn131Asp	p.N131D	ENST00000527884	NM_001256372.1	131	Aat/Gat	0	1		UPI00001F9E94	0	getma.org/pdb.php?prot=E2F8_HUMAN&from=113&to=182&var=N131D	ENST00000250024		ENSG00000129173	24727		65	-0.47		HGNC	p.N131D	rs748629526	E2F8		SNV							ENST00000527884	protein_coding	getma.org/?cm=var&var=hg19,11,19258921,T,C&fts=all		hmmpanther:PTHR12081:SF40,hmmpanther:PTHR12081,Pfam_domain:PF02319,Gene3D:1.10.10.10,Superfamily_domains:SSF46785		N/D		C	neutral	904/3240	1.50E-05	getma.org/?cm=msa&ty=f&p=E2F8_HUMAN&rb=113&re=182&var=N131D	tolerated(1)	E9PMT9_HUMAN				E2F8,missense_variant,p.Asn131Asp,ENST00000527884,NM_001256372.1,NM_001256371.1;E2F8,missense_variant,p.Asn131Asp,ENST00000250024,NM_024680.3;E2F8,missense_variant,p.Asn131Asp,ENST00000532666,;RP11-428C19.4,intron_variant,,ENST00000527978,;							MODERATE	391/2604	N131D	E2F8_HUMAN			Transcript		benign(0.006)	.	ENSP00000250024	8.24E-06	CCDS7849.1			1	
CCDC93	0	LGGM	GRCh37	2	118694298	118694298	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	55	26	.	.	ENST00000376300.2:c.1623A>T	p.Ser541=	p.S541=	ENST00000376300	NM_019044.4	541	tcA/tcT	0	1	1	UPI0000207DEC	0		ENST00000376300		ENSG00000125633	25611		81			HGNC	p.S540S		CCDC93		SNV							ENST00000319432	protein_coding			hmmpanther:PTHR16441		S		A		1761/6899							YES	CCDC93,synonymous_variant,p.=,ENST00000376300,NM_019044.4;CCDC93,synonymous_variant,p.=,ENST00000319432,;HTR5BP,downstream_gene_variant,,ENST00000434708,;CCDC93,3_prime_UTR_variant,,ENST00000437999,;CCDC93,non_coding_transcript_exon_variant,,ENST00000466171,;CCDC93,non_coding_transcript_exon_variant,,ENST00000470650,;CCDC93,upstream_gene_variant,,ENST00000474546,;AC009303.3,upstream_gene_variant,,ENST00000426307,;							LOW	1623/1896		CCD93_HUMAN			Transcript			.	ENSP00000365477		CCDS2121.2			1	
CDKN1B	0	LGGM	GRCh37	12	12871001	12871001	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	29	27	.	.	ENST00000228872.4:c.228G>A	p.Trp76Ter	p.W76*	ENST00000228872	NM_004064.3	76	tgG/tgA	0	1	1	UPI0000035C92	0	NA	ENST00000228872		ENSG00000111276	1785		56	0		HGNC	p.W76X		CDKN1B		SNV			1				ENST00000228872	protein_coding	getma.org/?cm=var&var=hg19,12,12871001,G,A&fts=all		hmmpanther:PTHR10265:SF9,hmmpanther:PTHR10265,Pfam_domain:PF02234,Gene3D:1jsuC00		W/*		A	NA	944/2657		NA		Q9UH60_HUMAN,Q6I9V6_HUMAN,B4DPH2_HUMAN			YES	CDKN1B,stop_gained,p.Trp76Ter,ENST00000228872,NM_004064.3;CDKN1B,stop_gained,p.Trp76Ter,ENST00000396340,;CDKN1B,intron_variant,,ENST00000442489,;CDKN1B,intron_variant,,ENST00000477087,;							HIGH	228/597	W76*	CDN1B_HUMAN			Transcript			.	ENSP00000228872		CCDS8653.1			1	
ZNF614	0	LGGM	GRCh37	19	52520066	52520066	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	65	27	.	.	ENST00000270649.6:c.785A>G	p.Asn262Ser	p.N262S	ENST00000270649	NM_025040.3	262	aAt/aGt	0	1	1	UPI0000202ADA	0	NA	ENST00000270649		ENSG00000142556	24722		92	-0.055		HGNC	p.N262S	rs374687937	ZNF614	0.000182	SNV	C:0						ENST00000270649	protein_coding	getma.org/?cm=var&var=hg19,19,52520066,T,C&fts=all		Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF110,Superfamily_domains:SSF57667		N/S	C:0.0001	C	neutral	1330/4818	6.01E-05	getma.org/?cm=msa&ty=f&p=ZN614_HUMAN&rb=219&re=302&var=N262S	tolerated(1)	M0QYG4_HUMAN			YES	ZNF614,missense_variant,p.Asn262Ser,ENST00000270649,NM_025040.3;ZNF614,intron_variant,,ENST00000356322,;ZNF614,downstream_gene_variant,,ENST00000597952,;ZNF614,downstream_gene_variant,,ENST00000595189,;							MODERATE	785/1758	N262S	ZN614_HUMAN			Transcript		benign(0)	.	ENSP00000270649	5.77E-05	CCDS12847.1			1	
GPR98	0	LGGM	GRCh37	5	89977146	89977146	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	94	27	.	.	ENST00000405460.2:c.5539G>A	p.Ala1847Thr	p.A1847T	ENST00000405460	NM_032119.3	1847	Gct/Act	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		121	2.3		HGNC	p.A1847T	rs546398340	GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89977146,G,A&fts=all	A:0	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		A/T		A	medium	5635/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=1810&re=1964&var=A1847T			A:0.0014	A:0	YES	GPR98,missense_variant,p.Ala1847Thr,ENST00000405460,NM_032119.3;GPR98,downstream_gene_variant,,ENST00000450321,;		A:0.0002					MODERATE	5539/18921	A1847T	GPR98_HUMAN		A:0	Transcript		probably_damaging(0.956)	.	ENSP00000384582		CCDS47246.1		A:0	1	
FAT2	0	LGGM	GRCh37	5	150922152	150922152	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	33	28	.	.	ENST00000261800.5:c.8536G>A	p.Glu2846Lys	p.E2846K	ENST00000261800	NM_001447.2	2846	Gag/Aag	0	1	1	UPI0000055B22	0	getma.org/pdb.php?prot=FAT2_HUMAN&from=2802&to=2897&var=E2846K	ENST00000261800		ENSG00000086570	3596		61	1.27		HGNC	p.E2846K		FAT2		SNV							ENST00000261800	protein_coding	getma.org/?cm=var&var=hg19,5,150922152,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF37,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/K		T	low	8549/14534		getma.org/?cm=msa&ty=f&p=FAT2_HUMAN&rb=2802&re=2897&var=E2846K					YES	FAT2,missense_variant,p.Glu2846Lys,ENST00000261800,NM_001447.2;							MODERATE	8536/13050	E2846K	FAT2_HUMAN			Transcript		benign(0.068)	.	ENSP00000261800		CCDS4317.1			1	
DNAH10	0	LGGM	GRCh37	12	124281370	124281370	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	38	28	.	.	ENST00000409039.3:c.1800A>G	p.Arg600=	p.R600=	ENST00000409039	NM_207437.3	600	cgA/cgG	0	1	1	UPI00014F7B89	0		ENST00000409039		ENSG00000197653	2941		66			HGNC	p.R600R		DNAH10		SNV							ENST00000409039	protein_coding			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		R		G		1825/14166							YES	DNAH10,synonymous_variant,p.=,ENST00000409039,NM_207437.3;DNAH10,non_coding_transcript_exon_variant,,ENST00000467219,;DNAH10,non_coding_transcript_exon_variant,,ENST00000447853,;							LOW	1800/13416		DYH10_HUMAN			Transcript			.	ENSP00000386770		CCDS9255.2			1	
ZNF816	0	LGGM	GRCh37	19	53454262	53454262	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	74	28	.	.	ENST00000357666.4:c.766G>C	p.Glu256Gln	p.E256Q	ENST00000357666	NM_001031665.2	256	Gaa/Caa	0	1	1	UPI0000251D78	0	getma.org/pdb.php?prot=ZN816_HUMAN&from=243&to=268&var=E256Q	ENST00000357666		ENSG00000180257	26995	8.64E-05	102	0.145		HGNC	p.E256Q	rs571423535	ZNF816	0.00139	SNV							ENST00000444460	protein_coding	getma.org/?cm=var&var=hg19,19,53454262,C,G&fts=all	G:0	Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF236,Superfamily_domains:SSF57667		E/Q		G	neutral	1067/2697	4.50E-05	getma.org/?cm=msa&ty=f&p=ZN816_HUMAN&rb=223&re=288&var=E256Q	tolerated(0.69)	I3L0H5_HUMAN	G:0	G:0	YES	ZNF816,missense_variant,p.Glu256Gln,ENST00000357666,NM_001031665.2;ZNF816,missense_variant,p.Glu256Gln,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,;		G:0.0002					MODERATE	766/1956	E256Q	ZN816_HUMAN		G:0	Transcript		benign(0)	common_variant	ENSP00000350295	0.000247	CCDS33096.1	0.00331	G:0.001	1	
ITIH3	0	LGGM	GRCh37	3	52835147	52835147	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	77	28	.	.	ENST00000449956.2:c.1368C>G	p.Ala456=	p.A456=	ENST00000449956	NM_002217.3	456	gcC/gcG	0	1	1	UPI00005CE290	0		ENST00000449956		ENSG00000162267	6168		105			HGNC	p.A456A		ITIH3		SNV							ENST00000416872	protein_coding			Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF24,SMART_domains:SM00327,Superfamily_domains:SSF53300		A		G		1374/3007							YES	ITIH3,synonymous_variant,p.=,ENST00000449956,NM_002217.3;ITIH3,synonymous_variant,p.=,ENST00000416872,;ITIH3,downstream_gene_variant,,ENST00000465243,;ITIH3,downstream_gene_variant,,ENST00000463893,;ITIH3,non_coding_transcript_exon_variant,,ENST00000464804,;ITIH3,upstream_gene_variant,,ENST00000493136,;ITIH3,upstream_gene_variant,,ENST00000495622,;ITIH3,upstream_gene_variant,,ENST00000475931,;ITIH3,upstream_gene_variant,,ENST00000465314,;							LOW	1368/2673		ITIH3_HUMAN			Transcript			.	ENSP00000415769		CCDS46845.1			1	
ACTN4	0	LGGM	GRCh37	19	39191353	39191353	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	14	29	.	.	ENST00000252699.2:c.276A>T	p.Ser92=	p.S92=	ENST00000252699	NM_004924.4	92	tcA/tcT	0	1	1	UPI0000125093	0		ENST00000252699		ENSG00000130402	166		43			HGNC	p.S92S		ACTN4		SNV			1				ENST00000252699	protein_coding			Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,SMART_domains:SM00033,Superfamily_domains:SSF47576		S		T		352/4963				Q96BG6_HUMAN			YES	ACTN4,splice_region_variant,p.=,ENST00000252699,NM_004924.4;ACTN4,splice_region_variant,p.=,ENST00000589528,;ACTN4,intron_variant,,ENST00000390009,;ACTN4,intron_variant,,ENST00000424234,;ACTN4,splice_region_variant,,ENST00000495553,;ACTN4,splice_region_variant,,ENST00000588618,;							LOW	276/2736		ACTN4_HUMAN			Transcript			.	ENSP00000252699		CCDS12518.1			1	
TBX5	0	LGGM	GRCh37	12	114837428	114837428	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	41	29	.	.	ENST00000310346.4:c.252T>C	p.Phe84=	p.F84=	ENST00000310346	NM_000192.3	84	ttT/ttC	0	1	1	UPI0000136AA2	0		ENST00000310346		ENSG00000089225	11604		70			HGNC	p.F84F		TBX5		SNV			1				ENST00000310346	protein_coding			PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF28,Gene3D:1h6fA00,Pfam_domain:PF00907,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937		F		G		919/3825							YES	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,non_coding_transcript_exon_variant,,ENST00000552726,;							LOW	252/1557		TBX5_HUMAN			Transcript			.	ENSP00000309913		CCDS9173.1			1	
MYO3A	0	LGGM	GRCh37	10	26241142	26241142	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	73	30	.	.	ENST00000265944.5:c.103G>T	p.Val35Phe	p.V35F	ENST00000265944	NM_017433.4	35	Gtt/Ttt	0	1	1	UPI000014140A	0	getma.org/pdb.php?prot=MYO3A_HUMAN&from=21&to=287&var=V35F	ENST00000265944		ENSG00000095777	7601		103	4.41		HGNC	p.V35F		MYO3A		SNV			1				ENST00000376302	protein_coding	getma.org/?cm=var&var=hg19,10,26241142,G,T&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011		V/F		T	high	269/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=21&re=287&var=V35F	deleterious(0)				YES	MYO3A,missense_variant,p.Val35Phe,ENST00000265944,NM_017433.4;MYO3A,missense_variant,p.Val35Phe,ENST00000376302,;MYO3A,missense_variant,p.Val35Phe,ENST00000543632,;MYO3A,missense_variant,p.Val35Phe,ENST00000376301,;							MODERATE	103/4851	V35F	MYO3A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265944		CCDS7148.1			1	
PKD1L1	0	LGGM	GRCh37	7	47886592	47886592	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	45	30	.	.	ENST00000289672.2:c.5038G>T	p.Val1680Leu	p.V1680L	ENST00000289672	NM_138295.3	1680	Gtg/Ttg	0	1	1	UPI0000130FA9	0	NA	ENST00000289672		ENSG00000158683	18053		75	0.895		HGNC	p.V1680L		PKD1L1		SNV							ENST00000289672	protein_coding	getma.org/?cm=var&var=hg19,7,47886592,C,A&fts=all		hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32		V/L		A	low	5089/9092		getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=1526&re=1725&var=V1680L	deleterious(0.01)				YES	PKD1L1,missense_variant,p.Val1680Leu,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;							MODERATE	5038/8550	V1680L	PK1L1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000289672		CCDS34633.1			1	
RABGAP1L	0	LGGM	GRCh37	1	174247754	174247754	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	52	30	.	.	ENST00000251507.4:c.1160A>G	p.Lys387Arg	p.K387R	ENST00000251507	NM_014857.4	387	aAg/aGg	0	1	1	UPI0000458A9F	0	NA	ENST00000251507		ENSG00000152061	24663		82	2.08		HGNC	p.K34R		RABGAP1L		SNV							ENST00000367689	protein_coding	getma.org/?cm=var&var=hg19,1,174247754,A,G&fts=all		Pfam_domain:PF12473,hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF205		K/R		G	medium	1334/2899		getma.org/?cm=msa&ty=f&p=RBG1L_HUMAN&rb=290&re=422&var=K387R	tolerated(0.1)	F1LJ00_HUMAN			YES	RABGAP1L,missense_variant,p.Lys387Arg,ENST00000251507,NM_014857.4;RABGAP1L,missense_variant,p.Lys350Arg,ENST00000357444,;RABGAP1L,missense_variant,p.Lys34Arg,ENST00000367689,;RABGAP1L,missense_variant,p.Lys399Arg,ENST00000457696,;RABGAP1L,non_coding_transcript_exon_variant,,ENST00000367690,;							MODERATE	1160/2448	K387R	RBG1L_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000251507		CCDS1314.1			1	
LRRC53	0	LGGM	GRCh37	1	74945991	74945991	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	38	30	.	.	ENST00000294635.4:c.750A>T	p.Pro250=	p.P250=	ENST00000294635		250	ccA/ccT	0	1	1	UPI000178DEDE	0		ENST00000294635		ENSG00000162621	25255		68			HGNC	p.P250P		LRRC53		SNV							ENST00000416014	protein_coding					P		A		865/3859							YES	LRRC53,synonymous_variant,p.=,ENST00000294635,;LRRC53,synonymous_variant,p.=,ENST00000416014,;TNNI3K,intron_variant,,ENST00000370891,NM_001112808.2;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,;							LOW	750/3744		LRC53_HUMAN			Transcript			.	ENSP00000294635					1	
DOCK4	0	LGGM	GRCh37	7	111644142	111644142	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	42	31	.	.	ENST00000437633.1:c.82G>T	p.Glu28Ter	p.E28*	ENST00000437633	NM_014705.3	28	Gaa/Taa	0	1	1	UPI0000D5BB0D	0	NA	ENST00000437633		ENSG00000128512	19192		73	0		HGNC	p.E28X		DOCK4		SNV							ENST00000437633	protein_coding	getma.org/?cm=var&var=hg19,7,111644142,C,A&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF07653,PROSITE_profiles:PS50002,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF75,SMART_domains:SM00326,Superfamily_domains:SSF50044		E/*		A	NA	339/6212		NA		Q75MU6_HUMAN			YES	DOCK4,stop_gained,p.Glu28Ter,ENST00000428084,;DOCK4,stop_gained,p.Glu28Ter,ENST00000437633,NM_014705.3;DOCK4,stop_gained,p.Glu16Ter,ENST00000445943,;DOCK4,non_coding_transcript_exon_variant,,ENST00000476846,;DOCK4,non_coding_transcript_exon_variant,,ENST00000468571,;							HIGH	82/5901	E28*	DOCK4_HUMAN			Transcript			.	ENSP00000404179		CCDS47688.1			1	
SLU7	0	LGGM	GRCh37	5	159830342	159830342	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	86	31	.	.	ENST00000297151.4:c.1711A>G	p.Met571Val	p.M571V	ENST00000297151	NM_006425.4	571	Atg/Gtg	0	1	1	UPI000013E3CE	0	NA	ENST00000297151		ENSG00000164609	16939		117	3.015		HGNC	p.M571V	rs752040562	SLU7		SNV							ENST00000297151	protein_coding	getma.org/?cm=var&var=hg19,5,159830342,T,C&fts=all		hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2		M/V		C	medium	2099/3793	1.50E-05	getma.org/?cm=msa&ty=f&p=SLU7_HUMAN&rb=543&re=586&var=M571V	deleterious(0.03)	E5RK41_HUMAN,E5RGM7_HUMAN			YES	SLU7,missense_variant,p.Met571Val,ENST00000297151,NM_006425.4;C5orf54,upstream_gene_variant,,ENST00000408953,NM_022090.3;C5orf54,upstream_gene_variant,,ENST00000523213,;SLU7,non_coding_transcript_exon_variant,,ENST00000521320,;SLU7,downstream_gene_variant,,ENST00000520841,;SLU7,downstream_gene_variant,,ENST00000523219,;							MODERATE	1711/1761	M571V	SLU7_HUMAN			Transcript		benign(0.297)	.	ENSP00000297151	8.24E-06	CCDS4352.1			1	
OR5D16	0	LGGM	GRCh37	11	55606262	55606262	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	65	34	.	.	ENST00000378396.1:c.35C>A	p.Ala12Asp	p.A12D	ENST00000378396	NM_001005496.1	12	gCc/gAc	0	1	1	UPI0000046198	0	NA	ENST00000378396		ENSG00000205029	15283		99	0.98		HGNC	p.A12D	COSM374966	OR5D16		SNV						1	ENST00000378396	protein_coding	getma.org/?cm=var&var=hg19,11,55606262,C,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF243,Superfamily_domains:SSF81321		A/D		A	low	35/987		getma.org/?cm=msa&ty=f&p=OR5DG_HUMAN&rb=1&re=140&var=A12D	deleterious(0.03)				YES	OR5D16,missense_variant,p.Ala12Asp,ENST00000378396,NM_001005496.1;					1		MODERATE	35/987	A12D	OR5DG_HUMAN			Transcript		benign(0.439)	.	ENSP00000367649		CCDS31512.1			1	
TSLP	0	LGGM	GRCh37	5	110409238	110409250	+	frameshift_variant	Frame_Shift_Del	DEL	AACCTTCAATCCC	AACCTTCAATCCC	-	novel	by Submitter	H093006	H093006N.bam	AACCTTCAATCCC	AACCTTCAATCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	91	34	.	.	ENST00000344895.3:c.247_259del	p.Thr83ProfsTer14	p.T83Pfs*14	ENST00000344895	NM_033035.4	82	ctAACCTTCAATCCC/ct	0	1	1	UPI000006DB21	0		ENST00000344895		ENSG00000145777	30743		125			HGNC	p.82_86del		TSLP		deletion							ENST00000420978	protein_coding			Pfam_domain:PF15216		LTFNP/X		-		445-457/736				Q96AU7_HUMAN,G3XAM8_HUMAN			YES	TSLP,frameshift_variant,p.Thr83ProfsTer14,ENST00000420978,;TSLP,frameshift_variant,p.Thr83ProfsTer14,ENST00000344895,NM_033035.4;TSLP,5_prime_UTR_variant,,ENST00000379706,NM_138551.4;CTC-551A13.2,downstream_gene_variant,,ENST00000507269,;							HIGH	246-258/480		TSLP_HUMAN			Transcript	1		.	ENSP00000339804		CCDS4101.1			1	
PRUNE2	0	LGGM	GRCh37	9	79324096	79324096	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	14	34	.	.	ENST00000376718.3:c.3094A>T	p.Met1032Leu	p.M1032L	ENST00000376718	NM_015225.2	1032	Atg/Ttg	0	1	1	UPI0001612CC0	0	NA	ENST00000376718		ENSG00000106772	25209		48	0.975		HGNC	p.M1032L		PRUNE2		SNV							ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79324096,T,A&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		M/L		A	low	3218/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=965&re=1164&var=M1032L	tolerated(0.08)				YES	PRUNE2,missense_variant,p.Met673Leu,ENST00000428286,;PRUNE2,missense_variant,p.Met1032Leu,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Met354Leu,ENST00000426088,;							MODERATE	3094/9267	M1032L	PRUN2_HUMAN			Transcript		benign(0.038)	.	ENSP00000365908		CCDS47982.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102483793	102483793	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	23	34	.	.	ENST00000360184.4:c.8129G>T	p.Gly2710Val	p.G2710V	ENST00000360184	NM_001376.4	2710	gGg/gTg	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=2558&to=2828&var=G2710V	ENST00000360184		ENSG00000197102	2961		57	3.36		HGNC	p.G2710V		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102483793,G,T&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12775,SMART_domains:SM00382,Superfamily_domains:SSF52540		G/V		T	medium	8293/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=2558&re=2828&var=G2710V		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Gly2710Val,ENST00000360184,NM_001376.4;DYNC1H1,upstream_gene_variant,,ENST00000555204,;							MODERATE	8129/13941	G2710V	DYHC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348965		CCDS9966.1			1	
GRIA2	0	LGGM	GRCh37	4	158224787	158224787	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	68	34	.	.	ENST00000296526.7:c.313G>A	p.Gly105Arg	p.G105R	ENST00000296526	NM_000826.3	105	Gga/Aga	0	1		UPI000012B7C2	0	getma.org/pdb.php?prot=GRIA2_HUMAN&from=48&to=379&var=G105R	ENST00000264426		ENSG00000120251	4572		102	1.795		HGNC	p.G58R	rs763904109	GRIA2		SNV							ENST00000323661	protein_coding	getma.org/?cm=var&var=hg19,4,158224787,G,A&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822		G/R		A	low	592/3445	1.50E-05	getma.org/?cm=msa&ty=f&p=GRIA2_HUMAN&rb=48&re=379&var=G105R	deleterious(0.05)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				GRIA2,missense_variant,p.Gly105Arg,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Gly58Arg,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Gly58Arg,ENST00000449365,;GRIA2,missense_variant,p.Gly105Arg,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Gly58Arg,ENST00000507898,;GRIA2,missense_variant,p.Gly58Arg,ENST00000505888,;GRIA2,missense_variant,p.Gly105Arg,ENST00000509417,;GRIA2,5_prime_UTR_variant,,ENST00000503437,;GRIA2,downstream_gene_variant,,ENST00000506284,;GRIA2,non_coding_transcript_exon_variant,,ENST00000504801,;GRIA2,missense_variant,p.Gly58Arg,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;							MODERATE	313/2652	G105R	GRIA2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000264426	8.24E-06	CCDS43274.1			1	
GABRR1	0	LGGM	GRCh37	6	89888549	89888549	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	32	35	.	.	ENST00000454853.2:c.1380G>T	p.Arg460Ser	p.R460S	ENST00000454853	NM_001256704.1	460	agG/agT	0	1	1	UPI0000D4AF7D	0	NA	ENST00000454853		ENSG00000146276	4090		67	3.125		HGNC	p.R443S		GABRR1		SNV							ENST00000435811	protein_coding	getma.org/?cm=var&var=hg19,6,89888549,C,A&fts=all		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF30,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		R/S		A	medium	1491/2820		getma.org/?cm=msa&ty=f&p=GBRR1_HUMAN&rb=402&re=475&var=R460S	deleterious(0.01)				YES	GABRR1,missense_variant,p.Arg443Ser,ENST00000435811,NM_001256703.1;GABRR1,missense_variant,p.Arg460Ser,ENST00000454853,NM_001256704.1,NM_002042.4;GABRR1,missense_variant,p.Arg373Ser,ENST00000369451,NM_001267582.1;GABRR1,3_prime_UTR_variant,,ENST00000457434,;							MODERATE	1380/1440	R460S	GBRR1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000412673		CCDS5019.2			1	
NAE1	0	LGGM	GRCh37	16	66860639	66860639	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	103	36	.	.	ENST00000290810.3:c.98T>G	p.Val33Gly	p.V33G	ENST00000290810		33	gTt/gGt	0	1	1	UPI000006EBDC	0	getma.org/pdb.php?prot=ULA1_HUMAN&from=29&to=165&var=V33G	ENST00000290810		ENSG00000159593	621		139	3.63		HGNC	p.V33G		NAE1		SNV							ENST00000290810	protein_coding	getma.org/?cm=var&var=hg19,16,66860639,A,C&fts=all		hmmpanther:PTHR10953,Gene3D:3.40.50.720,Pfam_domain:PF00899,Superfamily_domains:SSF69572		V/G		C	high	196/1837		getma.org/?cm=msa&ty=f&p=ULA1_HUMAN&rb=29&re=165&var=V33G	deleterious(0)	J3QRA5_HUMAN,A8MU28_HUMAN			YES	NAE1,missense_variant,p.Val27Gly,ENST00000379463,NM_001018159.1;NAE1,missense_variant,p.Val33Gly,ENST00000290810,;NAE1,missense_variant,p.Val33Gly,ENST00000359087,NM_003905.3,NM_001286500.1;NAE1,missense_variant,p.Val27Gly,ENST00000566336,;NAE1,missense_variant,p.Val68Gly,ENST00000565535,;NAE1,5_prime_UTR_variant,,ENST00000561579,;NAE1,intron_variant,,ENST00000394074,NM_001018160.1;NAE1,intron_variant,,ENST00000563185,;NAE1,non_coding_transcript_exon_variant,,ENST00000564040,;NAE1,missense_variant,p.Val33Gly,ENST00000569388,;NAE1,3_prime_UTR_variant,,ENST00000569348,;NAE1,non_coding_transcript_exon_variant,,ENST00000569963,;NAE1,non_coding_transcript_exon_variant,,ENST00000563419,;NAE1,non_coding_transcript_exon_variant,,ENST00000562757,;NAE1,intron_variant,,ENST00000567743,;NAE1,intron_variant,,ENST00000563253,;							MODERATE	98/1605	V33G	ULA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000290810		CCDS10820.1			1	
CENPE	0	LGGM	GRCh37	4	104062035	104062035	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	17	38	.	.	ENST00000265148.3:c.5690T>G	p.Val1897Gly	p.V1897G	ENST00000265148	NM_001813.2	1897	gTa/gGa	0	1	1	UPI000020B28A	0	NA	ENST00000265148		ENSG00000138778	1856		55	1.245		HGNC	p.V1897G		CENPE		SNV			1				ENST00000265148	protein_coding	getma.org/?cm=var&var=hg19,4,104062035,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		V/G		C	low	5780/8612		getma.org/?cm=msa&ty=f&p=CENPE_HUMAN&rb=1720&re=1919&var=V1897G		D6RBW0_HUMAN			YES	CENPE,missense_variant,p.Val1897Gly,ENST00000265148,NM_001813.2;CENPE,missense_variant,p.Val1872Gly,ENST00000380026,NM_001286734.1;CENPE,downstream_gene_variant,,ENST00000515478,;							MODERATE	5690/8106	V1897G	CENPE_HUMAN			Transcript		benign(0.104)	.	ENSP00000265148		CCDS34042.1			1	
KCNQ5	0	LGGM	GRCh37	6	73752933	73752933	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	49	39	.	.	ENST00000342056.2:c.616+1148A>G		*206*	ENST00000342056	NM_001160132.1			0	1		UPI0000167EE4	0		ENST00000370398		ENSG00000185760	6299		88			HGNC	p.S90S		KCNQ5		SNV							ENST00000441538	protein_coding							G		-/6345								KCNQ5,synonymous_variant,p.=,ENST00000441538,;KCNQ5,intron_variant,,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,intron_variant,,ENST00000355194,;KCNQ5,intron_variant,,ENST00000370398,NM_019842.3;KCNQ5,intron_variant,,ENST00000402622,;KCNQ5,intron_variant,,ENST00000355635,;KCNQ5,intron_variant,,ENST00000403813,NM_001160130.1;KCNQ5,intron_variant,,ENST00000414165,NM_001160134.1;KCNQ5,intron_variant,,ENST00000370392,;KCNQ5,downstream_gene_variant,,ENST00000443915,;							MODIFIER	-/2799		KCNQ5_HUMAN			Transcript			.	ENSP00000359425		CCDS4976.1			1	
KIF5A	0	LGGM	GRCh37	12	57963161	57963161	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	46	40	.	.	ENST00000455537.2:c.942C>A	p.Thr314=	p.T314=	ENST00000455537	NM_004984.2	314	acC/acA	0	1	1	UPI000013DE4C	0		ENST00000455537		ENSG00000155980	6323		86			HGNC	p.T225T		KIF5A		SNV			1				ENST00000286452	protein_coding			PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF317,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540		T		A		1216/5824							YES	KIF5A,synonymous_variant,p.=,ENST00000455537,NM_004984.2;KIF5A,synonymous_variant,p.=,ENST00000286452,;							LOW	942/3099		KIF5A_HUMAN			Transcript			.	ENSP00000408979		CCDS8945.1			1	
TRPS1	0	LGGM	GRCh37	8	116599403	116599403	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	90	40	.	.	ENST00000395715.3:c.2525del	p.Asp842ValfsTer72	p.D842Vfs*72	ENST00000395715	NM_014112.2	842	gAt/gt	0	1		UPI0000137646	0		ENST00000220888		ENSG00000104447	12340		130			HGNC	p.D829fs		TRPS1		deletion			1				ENST00000519674	protein_coding			hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6		D/X		-		2646/5480								TRPS1,frameshift_variant,p.Asp842ValfsTer72,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,frameshift_variant,p.Asp829ValfsTer72,ENST00000220888,;TRPS1,frameshift_variant,p.Asp833ValfsTer72,ENST00000520276,NM_001282902.1;TRPS1,frameshift_variant,p.Asp583ValfsTer72,ENST00000519076,;TRPS1,frameshift_variant,p.Asp829ValfsTer66,ENST00000519674,;TRPS1,frameshift_variant,p.Asp633ValfsTer?,ENST00000517323,;							HIGH	2486/3846		TRPS1_HUMAN			Transcript			.	ENSP00000220888					1	
OR5M9	0	LGGM	GRCh37	11	56230503	56230503	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	75	41	.	.	ENST00000279791.1:c.375C>A	p.Cys125Ter	p.C125*	ENST00000279791	NM_001004743.1	125	tgC/tgA	0	1	1	UPI0000061E81	0	NA	ENST00000279791		ENSG00000150269	15294		116	0		HGNC	p.C125X		OR5M9		SNV							ENST00000279791	protein_coding	getma.org/?cm=var&var=hg19,11,56230503,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF13,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		C/*		T	NA	375/933		NA					YES	OR5M9,stop_gained,p.Cys125Ter,ENST00000279791,NM_001004743.1;							HIGH	375/933	C125*	OR5M9_HUMAN			Transcript			.	ENSP00000279791		CCDS31531.1			1	
CNOT4	0	LGGM	GRCh37	7	135047890	135047890	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	92	44	.	.	ENST00000541284.1:c.1889A>G	p.Asn630Ser	p.N630S	ENST00000541284	NM_001190849.1	630	aAt/aGt	0	1	1	UPI00004166A8	0	NA	ENST00000541284		ENSG00000080802	7880	0.000346	136	0.895		HGNC	p.N559S	rs368810725	CNOT4	6.06E-05	SNV	C:0						ENST00000423368	protein_coding	getma.org/?cm=var&var=hg19,7,135047890,T,C&fts=all		hmmpanther:PTHR12603,hmmpanther:PTHR12603:SF2		N/S	C:0.0004	C	low	2220/3563	0.000195	getma.org/?cm=msa&ty=f&p=F8W7M0_HUMAN&rb=601&re=767&var=N630S	tolerated_low_confidence(0.37)				YES	CNOT4,missense_variant,p.Asn630Ser,ENST00000541284,NM_001190849.1,NM_001190850.1;CNOT4,missense_variant,p.Asn627Ser,ENST00000451834,;CNOT4,missense_variant,p.Asn559Ser,ENST00000423368,NM_001190847.1,NM_013316.3;CNOT4,missense_variant,p.Asn556Ser,ENST00000361528,;CNOT4,non_coding_transcript_exon_variant,,ENST00000473470,;	0.000348						MODERATE	1889/2142	N630S	CNOT4_HUMAN	0.000151		Transcript		probably_damaging(0.979)	.	ENSP00000445508	0.000182	CCDS55165.1			1	
VWDE	0	LGGM	GRCh37	7	12409417	12409417	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	87	45	.	.	ENST00000275358.3:c.2515G>C	p.Val839Leu	p.V839L	ENST00000275358	NM_001135924.1	839	Gtg/Ctg	0	1	1	UPI00006C0B98	0	NA	ENST00000275358		ENSG00000146530	21897		132	2.255		HGNC	p.V839L		VWDE		SNV							ENST00000275358	protein_coding	getma.org/?cm=var&var=hg19,7,12409417,C,G&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67		V/L		G	medium	2704/5260		getma.org/?cm=msa&ty=f&p=VWDE_HUMAN&rb=772&re=883&var=V839L	tolerated(0.22)				YES	VWDE,missense_variant,p.Val839Leu,ENST00000275358,NM_001135924.1;VWDE,missense_variant,p.Val839Leu,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;							MODERATE	2515/4773	V839L	VWDE_HUMAN			Transcript		benign(0.038)	.	ENSP00000275358		CCDS47544.1			1	
ESRP1	0	LGGM	GRCh37	8	95674560	95674560	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	122	50	.	.	ENST00000433389.2:c.551T>C	p.Met184Thr	p.M184T	ENST00000433389	NM_001034915.2	184	aTg/aCg	0	1	1	UPI0000210327	0	NA	ENST00000433389		ENSG00000104413	25966		172	2.395		HGNC	p.M184T		ESRP1		SNV							ENST00000423620	protein_coding	getma.org/?cm=var&var=hg19,8,95674560,T,C&fts=all		Gene3D:3.30.420.10,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Superfamily_domains:SSF53098		M/T		C	medium	741/3770		getma.org/?cm=msa&ty=f&p=ESRP1_HUMAN&rb=1&re=200&var=M184T	deleterious(0.02)	E5RI26_HUMAN,E5RGE9_HUMAN			YES	ESRP1,missense_variant,p.Met184Thr,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,missense_variant,p.Met184Thr,ENST00000358397,;ESRP1,missense_variant,p.Met184Thr,ENST00000423620,NM_001122826.1;ESRP1,missense_variant,p.Met184Thr,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,missense_variant,p.Met50Thr,ENST00000519505,;ESRP1,missense_variant,p.Met43Thr,ENST00000517610,;ESRP1,missense_variant,p.Met24Thr,ENST00000520385,;ESRP1,intron_variant,,ENST00000522756,;ESRP1,upstream_gene_variant,,ENST00000517556,;							MODERATE	551/2046	M184T	ESRP1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000405738		CCDS47897.1			1	
SH3KBP1	0	LGGM	GRCh37	X	19613113	19613113	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093006	H093006N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	14	52	.	.	ENST00000397821.3:c.1011C>T	p.Pro337=	p.P337=	ENST00000397821	NM_031892.2	337	ccC/ccT	0	1	1	UPI000006CC82	0		ENST00000397821		ENSG00000147010	13867		66			HGNC	p.P337P	rs745541135	SH3KBP1		SNV							ENST00000397821	protein_coding			Superfamily_domains:SSF50044,Gene3D:2.30.30.40,hmmpanther:PTHR14167,hmmpanther:PTHR14167:SF6,Low_complexity_(Seg):seg		P		A		1302/4731	2.08E-05			Q5JPT6_HUMAN,B7Z6E8_HUMAN			YES	SH3KBP1,synonymous_variant,p.=,ENST00000397821,NM_031892.2;SH3KBP1,synonymous_variant,p.=,ENST00000379716,NM_001184960.1;SH3KBP1,synonymous_variant,p.=,ENST00000379698,NM_001024666.2;SH3KBP1,synonymous_variant,p.=,ENST00000379697,;SH3KBP1,synonymous_variant,p.=,ENST00000379726,;SH3KBP1,synonymous_variant,p.=,ENST00000541422,;SH3KBP1,non_coding_transcript_exon_variant,,ENST00000477102,;SH3KBP1,non_coding_transcript_exon_variant,,ENST00000494961,;							LOW	1011/1998		SH3K1_HUMAN			Transcript			.	ENSP00000380921	8.24E-06	CCDS14193.1			1	
HBD	0	LGGM	GRCh37	11	5254008	5254008	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	112	53	.	.				ENST00000380299	NM_000519.3			0	1	1	UPI0000161DC2	0		ENST00000380299		ENSG00000223609	4829		165		60	HGNC	p.E112D		HBD		SNV			1				ENST00000292901	protein_coding							A		-/785				A0N071_HUMAN,Q5XTR9_HUMAN,E9PEW8_HUMAN,D1MGQ0_HUMAN,D1MGP8_HUMAN			YES	HBD,missense_variant,p.Glu112Asp,ENST00000292901,;HBD,downstream_gene_variant,,ENST00000380299,NM_000519.3;HBD,downstream_gene_variant,,ENST00000429817,;HBB,upstream_gene_variant,,ENST00000380315,;HBD,downstream_gene_variant,,ENST00000417377,;							MODIFIER	-/444		HBD_HUMAN			Transcript			.	ENSP00000369654		CCDS31376.1			1	
RTKN2	0	LGGM	GRCh37	10	63957793	63957793	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	14	54	.	.	ENST00000373789.3:c.1704T>C	p.Asn568=	p.N568=	ENST00000373789	NM_145307.2	568	aaT/aaC	0	1	1	UPI000007413A	0		ENST00000373789		ENSG00000182010	19364		68			HGNC	p.N568N		RTKN2		SNV							ENST00000373789	protein_coding					N		G		1801/6641							YES	RTKN2,synonymous_variant,p.=,ENST00000373789,NM_145307.2;RTKN2,intron_variant,,ENST00000315289,;RTKN2,intron_variant,,ENST00000395265,;							LOW	1704/1830		RTKN2_HUMAN			Transcript			.	ENSP00000362894		CCDS7263.1			1	
RYR3	0	LGGM	GRCh37	15	33765675	33765675	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	36	55	.	.	ENST00000389232.4:c.107T>C	p.Phe36Ser	p.F36S	ENST00000389232	NM_001036.3	36	tTc/tCc	0	1	1	UPI0000E5B01A	0	getma.org/pdb.php?prot=RYR3_HUMAN&from=10&to=213&var=F36S	ENST00000389232		ENSG00000198838	10485		91	0.895		HGNC	p.F36S		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33765675,T,C&fts=all		Gene3D:2.80.10.50,Pfam_domain:PF08709,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		F/S		C	low	177/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=10&re=213&var=F36S					YES	RYR3,missense_variant,p.Phe36Ser,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Phe36Ser,ENST00000415757,NM_001243996.1;							MODERATE	107/14613	F36S	RYR3_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000373884		CCDS45210.1			1	
ABCA13	0	LGGM	GRCh37	7	48431654	48431654	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	68	57	.	.	ENST00000435803.1:c.11791A>G	p.Thr3931Ala	p.T3931A	ENST00000435803	NM_152701.3	3931	Acc/Gcc	0	1	1	UPI00001A95EA	0	getma.org/pdb.php?prot=ABCAD_HUMAN&from=3882&to=4004&var=T3931A	ENST00000435803		ENSG00000179869	14638		125	3.91		HGNC	p.T3931A	rs765342883	ABCA13	6.06E-05	SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48431654,A,G&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893		T/A		G	high	11815/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3882&re=4004&var=T3931A					YES	ABCA13,missense_variant,p.Thr3931Ala,ENST00000435803,NM_152701.3;ABCA13,missense_variant,p.Thr197Ala,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;							MODERATE	11791/15177	T3931A	ABCAD_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000411096	8.27E-06	CCDS47584.1			1	
MEOX1	0	LGGM	GRCh37	17	41738509	41738509	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	87	62	.	.	ENST00000318579.4:c.394G>A	p.Asp132Asn	p.D132N	ENST00000318579	NM_001040002.1	132	Gat/Aat	0	1	1	UPI000012F410	0	NA	ENST00000318579		ENSG00000005102	7013		149	0		HGNC	p.D17N	rs750330652	MEOX1		SNV			1				ENST00000393661	protein_coding	getma.org/?cm=var&var=hg19,17,41738509,C,T&fts=all		hmmpanther:PTHR24328,hmmpanther:PTHR24328:SF8		D/N		T	neutral	814/2707		getma.org/?cm=msa&ty=f&p=MEOX1_HUMAN&rb=1&re=171&var=D132N	tolerated(0.07)				YES	MEOX1,missense_variant,p.Asp132Asn,ENST00000318579,NM_001040002.1,NM_004527.3;MEOX1,missense_variant,p.Asp132Asn,ENST00000329168,NM_013999.3;MEOX1,missense_variant,p.Asp17Asn,ENST00000393661,;MEOX1,synonymous_variant,p.=,ENST00000549132,;	0.000117						MODERATE	394/765	D132N	MEOX1_HUMAN			Transcript		benign(0.032)	.	ENSP00000321684	8.25E-06	CCDS11466.1			1	
CRNN	0	LGGM	GRCh37	1	152383027	152383027	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	128	69	.	.	ENST00000271835.3:c.531A>T	p.Glu177Asp	p.E177D	ENST00000271835	NM_016190.2	177	gaA/gaT	0	1	1	UPI000006E106	0	NA	ENST00000271835		ENSG00000143536	1230		197	1.905		HGNC	p.E177D		CRNN		SNV							ENST00000271835	protein_coding	getma.org/?cm=var&var=hg19,1,152383027,T,A&fts=all		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26		E/D		A	medium	594/1902		getma.org/?cm=msa&ty=f&p=CRNN_HUMAN&rb=111&re=494&var=E177D	tolerated(0.09)				YES	CRNN,missense_variant,p.Glu177Asp,ENST00000271835,NM_016190.2;RP1-91G5.3,intron_variant,,ENST00000411804,;							MODERATE	531/1488	E177D	CRNN_HUMAN			Transcript		possibly_damaging(0.713)	.	ENSP00000271835		CCDS1010.1			1	
FAM204A	0	LGGM	GRCh37	10	120085688	120085688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093006	H093006N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	13	75	.	.	ENST00000369183.4:c.521G>T	p.Ser174Ile	p.S174I	ENST00000369183	NM_022063.2	174	aGc/aTc	0	1		UPI0000073C7E	0	NA	ENST00000369172		ENSG00000165669	25794		88	2.395		HGNC	p.S174I		FAM204A		SNV							ENST00000369183	protein_coding	getma.org/?cm=var&var=hg19,10,120085688,C,A&fts=all		hmmpanther:PTHR14386,hmmpanther:PTHR14386:SF1		S/I		A	medium	580/872		getma.org/?cm=msa&ty=f&p=F204A_HUMAN&rb=1&re=200&var=S174I	deleterious(0)	Q5T374_HUMAN				FAM204A,missense_variant,p.Ser174Ile,ENST00000369183,NM_022063.2;FAM204A,missense_variant,p.Ser174Ile,ENST00000369172,NM_001134672.1;FAM204A,non_coding_transcript_exon_variant,,ENST00000469758,;FAM204A,non_coding_transcript_exon_variant,,ENST00000491416,;FAM204A,missense_variant,p.Ser174Ile,ENST00000470476,;							MODERATE	521/702	S174I	F204A_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000358170		CCDS7605.1			1	
FLG	0	LGGM	GRCh37	1	152277646	152277646	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093006	H093006N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	177	81	.	.	ENST00000368799.1:c.9716A>G	p.His3239Arg	p.H3239R	ENST00000368799	NM_002016.1	3239	cAt/cGt	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		258	1.95		HGNC	p.H3239R	rs763076291	FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152277646,T,C&fts=all				H/R		C	medium	9752/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=3225&re=3291&var=H3239R		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.His3239Arg,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;	0.000116						MODERATE	9716/12186	H3239R	FILA_HUMAN			Transcript		unknown(0)	.	ENSP00000357789	8.24E-06	CCDS30860.1			1	
ZC2HC1C	0	LGGM	GRCh37	14	75537506	75537506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093006	H093006N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093006N.bam, H093006T.bam	Illumina HiSeq	67	110	.	.	ENST00000524913.1:c.230A>T	p.Gln77Leu	p.Q77L	ENST00000524913	NM_024643.2	77	cAa/cTa	0	1	1	UPI000059D27D	0	NA	ENST00000524913		ENSG00000119703	20354		177	-0.345		HGNC	p.Q77L		ZC2HC1C		SNV							ENST00000439583	protein_coding	getma.org/?cm=var&var=hg19,14,75537506,A,T&fts=all		hmmpanther:PTHR14649		Q/L		T	neutral	719/2392		getma.org/?cm=msa&ty=f&p=ZC21C_HUMAN&rb=1&re=200&var=Q77L	tolerated(0.69)	J3KMY6_HUMAN,G3V3E3_HUMAN,E9PNG2_HUMAN,E9PMG6_HUMAN,E9PJ43_HUMAN			YES	ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000524913,NM_024643.2;ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000238686,;ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000439583,NM_001042430.1;ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000526130,;ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000534151,;ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000554763,;ZC2HC1C,missense_variant,p.Gln77Leu,ENST00000525046,;ACYP1,upstream_gene_variant,,ENST00000555463,;ZC2HC1C,upstream_gene_variant,,ENST00000532198,;ZC2HC1C,intron_variant,,ENST00000526748,;							MODERATE	230/1371	Q77L	ZC21C_HUMAN			Transcript		benign(0)	.	ENSP00000435550		CCDS41972.1			1	
LAMA5	0	LGGM	GRCh37	20	60927333	60927333	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	8	2	.	.	ENST00000252999.3:c.652G>C	p.Glu218Gln	p.E218Q	ENST00000252999	NM_005560.4	218	Gag/Cag	0	1	1	UPI0000161FDC	0	getma.org/pdb.php?prot=LAMA5_HUMAN&from=45&to=298&var=E218Q	ENST00000252999		ENSG00000130702	6485		10	1.31		HGNC	p.E218Q		LAMA5		SNV							ENST00000252999	protein_coding	getma.org/?cm=var&var=hg19,20,60927333,C,G&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF261,SMART_domains:SM00136		E/Q		G	low	719/11426		getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=45&re=298&var=E218Q		O75079_HUMAN			YES	LAMA5,missense_variant,p.Glu218Gln,ENST00000252999,NM_005560.4;LAMA5,missense_variant,p.Glu218Gln,ENST00000370692,;LAMA5,missense_variant,p.Glu218Gln,ENST00000370677,;RP11-157P1.5,upstream_gene_variant,,ENST00000478167,;RP11-157P1.5,upstream_gene_variant,,ENST00000487421,;RP11-157P1.5,upstream_gene_variant,,ENST00000477848,;RP11-157P1.5,upstream_gene_variant,,ENST00000456721,;LAMA5,upstream_gene_variant,,ENST00000497053,;							MODERATE	652/11088	E218Q	LAMA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000252999		CCDS33502.1			1	
ECI1	0	LGGM	GRCh37	16	2294427	2294427	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	4	2	.	.	ENST00000301729.4:c.421G>C	p.Val141Leu	p.V141L	ENST00000301729	NM_001919.3	141	Gtg/Ctg	0	1	1	UPI0000128DAE	0	getma.org/pdb.php?prot=ECI1_HUMAN&from=50&to=296&var=V141L	ENST00000301729		ENSG00000167969	2703		6	1.365		HGNC	p.V82L		ECI1		SNV							ENST00000570258	protein_coding	getma.org/?cm=var&var=hg19,16,2294427,C,G&fts=all		hmmpanther:PTHR11941:SF55,hmmpanther:PTHR11941,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		V/L		G	low	469/1541		getma.org/?cm=msa&ty=f&p=ECI1_HUMAN&rb=50&re=296&var=V141L	deleterious(0.05)	Q96DC0_HUMAN,H3BS70_HUMAN			YES	ECI1,missense_variant,p.Val141Leu,ENST00000301729,NM_001919.3;ECI1,missense_variant,p.Val82Leu,ENST00000570258,;ECI1,missense_variant,p.Val82Leu,ENST00000566379,;ECI1,missense_variant,p.Val141Leu,ENST00000562238,NM_001178029.1;RP11-304L19.11,downstream_gene_variant,,ENST00000565709,;ECI1,non_coding_transcript_exon_variant,,ENST00000563447,;ECI1,non_coding_transcript_exon_variant,,ENST00000563029,;ECI1,non_coding_transcript_exon_variant,,ENST00000561688,;							MODERATE	421/909	V141L	ECI1_HUMAN			Transcript		benign(0.018)	.	ENSP00000301729		CCDS10464.1			1	
TP53	0	LGGM	GRCh37	17	7578235	7578235	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	10	9	.	.	ENST00000269305.4:c.614A>G	p.Tyr205Cys	p.Y205C	ENST00000269305	NM_001126112.2	205	tAt/tGt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y205C	ENST00000269305		ENSG00000141510	11998		19	2.99		HGNC	p.Y205C	TP53_g.12683A>G,COSM43947,COSM99633,COSM99630,COSM99631,COSM3378351,COSM1649393,COSM99632	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578235,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/C		C	medium	804/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y205C	deleterious(0)	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			YES	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,;					0,1,1,1,1,1,1,1		MODERATE	614/1182	Y205C	P53_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000269305		CCDS11118.1			1	
TNK2	0	LGGM	GRCh37	3	195594136	195594136	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	15	3	.	.	ENST00000381916.2:c.3126+96G>T		*1042*	ENST00000381916	NM_001010938.1			0	1		UPI000021D19E	0		ENST00000333602		ENSG00000061938	19297		18			HGNC	-		TNK2		SNV			1				ENST00000416152	protein_coding							A		-/4552				C9JDG3_HUMAN				TNK2,splice_acceptor_variant,,ENST00000416152,;TNK2,splice_region_variant,,ENST00000333602,NM_005781.4;TNK2,splice_region_variant,,ENST00000392400,;TNK2,intron_variant,,ENST00000428187,;TNK2,intron_variant,,ENST00000381916,NM_001010938.1;TNK2,downstream_gene_variant,,ENST00000316664,;TNK2,downstream_gene_variant,,ENST00000424563,;TNK2,downstream_gene_variant,,ENST00000411741,;TNK2,downstream_gene_variant,,ENST00000478623,;TNK2,downstream_gene_variant,,ENST00000495247,;TNK2,splice_acceptor_variant,,ENST00000420716,;TNK2,downstream_gene_variant,,ENST00000481865,;TNK2,downstream_gene_variant,,ENST00000464041,;TNK2,downstream_gene_variant,,ENST00000439230,;TNK2,downstream_gene_variant,,ENST00000489628,;TNK2,downstream_gene_variant,,ENST00000478715,;TNK2,downstream_gene_variant,,ENST00000468680,;							LOW	-/3117		ACK1_HUMAN			Transcript			.	ENSP00000329425		CCDS33928.1			1	
GRIN3B	0	LGGM	GRCh37	19	1005061	1005061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	11	3	.	.	ENST00000234389.3:c.1561C>A	p.Leu521Met	p.L521M	ENST00000234389	NM_138690.1	521	Ctg/Atg	0	1	1	UPI000004064B	0	getma.org/pdb.php?prot=NMD3B_HUMAN&from=475&to=810&var=L521M	ENST00000234389		ENSG00000116032	16768		14	0.515		HGNC	p.L521M		GRIN3B		SNV							ENST00000234389	protein_coding	getma.org/?cm=var&var=hg19,19,1005061,C,A&fts=all		Gene3D:3.40.190.10,Pfam_domain:PF00497,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850		L/M		A	neutral	1580/3281		getma.org/?cm=msa&ty=f&p=NMD3B_HUMAN&rb=475&re=810&var=L521M	deleterious(0.02)				YES	GRIN3B,missense_variant,p.Leu521Met,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,;AC004528.4,upstream_gene_variant,,ENST00000588380,;GRIN3B,non_coding_transcript_exon_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000592618,;							MODERATE	1561/3132	L521M	NMD3B_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000234389		CCDS32861.1			1	
C5orf42	0	LGGM	GRCh37	5	37182872	37182872	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	19	3	.	.	ENST00000425232.2:c.5411C>T	p.Ala1804Val	p.A1804V	ENST00000425232	NM_023073.3	1804	gCc/gTc	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		22	0.345		HGNC	p.A685V		C5orf42		SNV			1				ENST00000274258	protein_coding	getma.org/?cm=var&var=hg19,5,37182872,G,A&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		A/V		A	neutral	5642/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=1&re=689&var=A685V	tolerated(0.3)				YES	C5orf42,missense_variant,p.Ala685Val,ENST00000274258,;C5orf42,missense_variant,p.Ala1804Val,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Ala1804Val,ENST00000508244,;C5orf42,missense_variant,p.Ala852Val,ENST00000514429,;C5orf42,missense_variant,p.Ala809Val,ENST00000509849,;							MODERATE	5411/9594	A685V	CE042_HUMAN			Transcript		benign(0.027)	.	ENSP00000389014		CCDS34146.2			1	
PACSIN2	0	LGGM	GRCh37	22	43278232	43278232	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	26	3	.	.	ENST00000263246.3:c.864C>A	p.Ala288=	p.A288=	ENST00000263246	NM_001184970.1	288	gcC/gcA	0	1	1	UPI00001311CA	0		ENST00000263246		ENSG00000100266	8571		29			HGNC	p.A288A		PACSIN2		SNV							ENST00000337959	protein_coding			hmmpanther:PTHR10959:SF2,hmmpanther:PTHR10959,Superfamily_domains:SSF103657		A		T		1066/3249				B0QYG9_HUMAN,B0QYG7_HUMAN			YES	PACSIN2,synonymous_variant,p.=,ENST00000263246,NM_001184970.1;PACSIN2,synonymous_variant,p.=,ENST00000337959,;PACSIN2,synonymous_variant,p.=,ENST00000407585,NM_001184971.1;PACSIN2,synonymous_variant,p.=,ENST00000403744,NM_007229.3;PACSIN2,synonymous_variant,p.=,ENST00000402229,;							LOW	864/1461		PACN2_HUMAN			Transcript			.	ENSP00000263246		CCDS43023.1			1	
PKD1L2	0	LGGM	GRCh37	16	81241227	81241227	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	41	3	.	.	ENST00000337114.4:c.774G>T	p.Met258Ile	p.M258I	ENST00000337114	NM_001076780.1	258	atG/atT	0	1	1	UPI0000E4C8FA	0		ENST00000337114		ENSG00000166473	21715		44			HGNC	p.M258I		PKD1L2		SNV							ENST00000599697	protein_coding			hmmpanther:PTHR10877:SF108,hmmpanther:PTHR10877		M/I		A		774/3427			tolerated(0.29)	Q6AI51_HUMAN				PKD1L2,missense_variant,p.Met258Ile,ENST00000337114,NM_001076780.1;PKD1L2,missense_variant,p.Met258Ile,ENST00000525539,NM_052892.3;							MODERATE	774/2976		PK1L2_HUMAN			Transcript		benign(0.001)	.	ENSP00000337397					1	
MCFD2	0	LGGM	GRCh37	2	47133121	47133121	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	46	3	.	.	ENST00000409105.1:c.310-388G>A		*104*	ENST00000409105	NM_001171506.2			0	1		UPI000005275E	0		ENST00000319466		ENSG00000180398	18451		49			HGNC	p.A71T		MCFD2		SNV			1				ENST00000434262	protein_coding							T		-/4182				C9JTR4_HUMAN				MCFD2,missense_variant,p.Ala71Thr,ENST00000434262,;MCFD2,intron_variant,,ENST00000409105,NM_001171506.2;MCFD2,intron_variant,,ENST00000319466,NM_139279.5,NM_001171508.2,NM_001171507.2;MCFD2,intron_variant,,ENST00000444761,NM_001171511.2;MCFD2,intron_variant,,ENST00000409913,NM_001171509.2;MCFD2,intron_variant,,ENST00000409800,NM_001171510.2;MCFD2,intron_variant,,ENST00000409207,;MCFD2,intron_variant,,ENST00000409973,;MCFD2,intron_variant,,ENST00000409147,;MCFD2,intron_variant,,ENST00000409218,;MCFD2,intron_variant,,ENST00000412438,;MCFD2,downstream_gene_variant,,ENST00000417180,;AC016722.4,intron_variant,,ENST00000429761,;MCFD2,intron_variant,,ENST00000493804,;MCFD2,intron_variant,,ENST00000470873,;MCFD2,downstream_gene_variant,,ENST00000477791,;MCFD2,downstream_gene_variant,,ENST00000487121,;MCFD2,downstream_gene_variant,,ENST00000479225,;							MODIFIER	-/441		MCFD2_HUMAN			Transcript			.	ENSP00000317271		CCDS33192.1			1	
ZNF581	0	LGGM	GRCh37	19	56156407	56156407	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	43	3	.	.	ENST00000587252.1:c.470C>T	p.Ala157Val	p.A157V	ENST00000587252		157	gCg/gTg	0	1		UPI0000070E84	0	NA	ENST00000270451		ENSG00000171425	25017	8.77E-05	46	0.735		HGNC	p.A157V	rs368531496	ZNF581		SNV	T:0.0005			0.000215			ENST00000588537	protein_coding	getma.org/?cm=var&var=hg19,19,56156407,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23228:SF110,hmmpanther:PTHR23228,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/V	T:0	T	neutral	717/1298	1.61E-05	getma.org/?cm=msa&ty=f&p=ZN581_HUMAN&rb=127&re=158&var=A157V	tolerated(0.06)	K7EM32_HUMAN				ZNF581,missense_variant,p.Ala157Val,ENST00000587252,;ZNF581,missense_variant,p.Ala157Val,ENST00000270451,NM_016535.3;ZNF581,missense_variant,p.Ala157Val,ENST00000588537,;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,;ZNF581,downstream_gene_variant,,ENST00000585995,;CCDC106,upstream_gene_variant,,ENST00000593069,;ZNF580,downstream_gene_variant,,ENST00000592461,;ZNF580,downstream_gene_variant,,ENST00000590190,;CCDC106,upstream_gene_variant,,ENST00000586864,;	0.00024						MODERATE	470/594	A157V	ZN581_HUMAN			Transcript		benign(0.006)	.	ENSP00000270451	4.95E-05	CCDS12932.1			1	
ACR	0	LGGM	GRCh37	22	51183140	51183140	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	15	3	.	.	ENST00000216139.5:c.771G>T	p.Val257=	p.V257=	ENST00000216139	NM_001097.2	257	gtG/gtT	0	1	1	UPI00001AE5ED	0		ENST00000216139		ENSG00000100312	126		18			HGNC	p.V257V		ACR		SNV							ENST00000216139	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001141,PROSITE_profiles:PS50240,hmmpanther:PTHR24252,SMART_domains:SM00020,Superfamily_domains:SSF50494		V		T		811/1433							YES	ACR,synonymous_variant,p.=,ENST00000216139,NM_001097.2;ACR,downstream_gene_variant,,ENST00000529621,;AC002056.5,upstream_gene_variant,,ENST00000532913,;ACR,non_coding_transcript_exon_variant,,ENST00000527761,;ACR,downstream_gene_variant,,ENST00000533930,;							LOW	771/1266		ACRO_HUMAN			Transcript			.	ENSP00000216139		CCDS14101.1			1	
ZNF485	0	LGGM	GRCh37	10	44104772	44104772	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	23	3	.	.	ENST00000361807.3:c.221G>T	p.Arg74Leu	p.R74L	ENST00000361807	NM_145312.3	74	cGa/cTa	0	1	1	UPI00000717FE	0	NA	ENST00000361807		ENSG00000198298	23440		26	1.17		HGNC	p.R74L		ZNF485		SNV							ENST00000361807	protein_coding	getma.org/?cm=var&var=hg19,10,44104772,G,T&fts=all		hmmpanther:PTHR24376:SF14,hmmpanther:PTHR24376,PROSITE_profiles:PS50805		R/L		T	low	415/2054		getma.org/?cm=msa&ty=f&p=ZN485_HUMAN&rb=11&re=82&var=R74L	tolerated(0.22)	C9JV60_HUMAN,B4DSE6_HUMAN,B2R8D6_HUMAN			YES	ZNF485,missense_variant,p.Arg74Leu,ENST00000361807,NM_145312.3;ZNF485,missense_variant,p.Arg74Leu,ENST00000374435,;ZNF485,missense_variant,p.Arg74Leu,ENST00000430885,;ZNF485,intron_variant,,ENST00000374437,;ZNF485,downstream_gene_variant,,ENST00000480678,;CAP1P2,upstream_gene_variant,,ENST00000417455,;							MODERATE	221/1326	R74L	ZN485_HUMAN			Transcript		benign(0.003)	.	ENSP00000354694		CCDS7205.2			1	
IGHG2	0	LGGM	GRCh37	14	106110911	106110911	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	24	3	.	.	ENST00000390545.2:c.217T>A	p.Ser73Thr	p.S73T	ENST00000390545		73	Tcc/Acc	0	1	1	UPI0000140AFA	0		ENST00000390545		ENSG00000211893	5526		27			HGNC	p.S73T		IGHG2		SNV			1				ENST00000390545	IG_C_gene			Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF72,SMART_domains:SM00407,Superfamily_domains:SSF48726		S/T		T		217/1132			tolerated(0.21)				YES	IGHG2,missense_variant,p.Ser73Thr,ENST00000390545,;RP11-731F5.2,non_coding_transcript_exon_variant,,ENST00000460164,;RP11-731F5.2,downstream_gene_variant,,ENST00000497397,;							MODERATE	217/981		IGHG2_HUMAN			Transcript		benign(0.01)	.	ENSP00000374987					1	
PRELP	0	LGGM	GRCh37	1	203453233	203453233	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	32	3	.	.	ENST00000343110.2:c.921C>A	p.Pro307=	p.P307=	ENST00000343110	NM_201348.1	307	ccC/ccA	0	1	1	UPI000013222E	0		ENST00000343110		ENSG00000188783	9357		35			HGNC	p.P307P		PRELP		SNV							ENST00000343110	protein_coding			Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF15,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058		P		A		1048/5747				Q7Z4B2_HUMAN			YES	PRELP,synonymous_variant,p.=,ENST00000343110,NM_201348.1,NM_002725.3;							LOW	921/1149		PRELP_HUMAN			Transcript			.	ENSP00000343924		CCDS1438.1			1	
SMG1	0	LGGM	GRCh37	16	18847458	18847458	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	37	3	.	.	ENST00000446231.2:c.7854G>T	p.Gln2618His	p.Q2618H	ENST00000446231		2618	caG/caT	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		40	0.805		HGNC	p.Q2618H		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18847458,C,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		Q/H		A	low	8267/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2428&re=2627&var=Q2618H	deleterious(0.01)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Gln2618His,ENST00000446231,;SMG1,missense_variant,p.Gln2618His,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Gln2508His,ENST00000565324,;SMG1,downstream_gene_variant,,ENST00000563448,;							MODERATE	7854/10986	Q2618H	SMG1_HUMAN			Transcript		benign(0.271)	.	ENSP00000402515		CCDS45430.1			1	
PIGG	0	LGGM	GRCh37	4	527619	527619	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	29	3	.	.	ENST00000453061.2:c.2584A>T	p.Asn862Tyr	p.N862Y	ENST00000453061	NM_001127178.1	862	Aac/Tac	0	1	1	UPI00004C7A82	0	NA	ENST00000453061		ENSG00000174227	25985		32	2.19		HGNC	p.N773Y		PIGG		SNV							ENST00000504346	protein_coding	getma.org/?cm=var&var=hg19,4,527619,A,T&fts=all		hmmpanther:PTHR23072,hmmpanther:PTHR23072:SF0		N/Y		T	medium	2690/3218		getma.org/?cm=msa&ty=f&p=PIGG_HUMAN&rb=724&re=923&var=N862Y	deleterious(0)	E7EWV1_HUMAN,D6RC16_HUMAN			YES	PIGG,missense_variant,p.Asn862Tyr,ENST00000453061,NM_001127178.1;PIGG,missense_variant,p.Asn854Tyr,ENST00000310340,NM_017733.3;PIGG,missense_variant,p.Asn773Tyr,ENST00000504346,;PIGG,missense_variant,p.Asn729Tyr,ENST00000383028,;PIGG,3_prime_UTR_variant,,ENST00000296306,;PIGG,downstream_gene_variant,,ENST00000510235,;PIGG,non_coding_transcript_exon_variant,,ENST00000503261,;PIGG,non_coding_transcript_exon_variant,,ENST00000504879,;PIGG,upstream_gene_variant,,ENST00000515237,;PIGG,downstream_gene_variant,,ENST00000508562,;PIGG,upstream_gene_variant,,ENST00000505800,;PIGG,non_coding_transcript_exon_variant,,ENST00000513239,;PIGG,non_coding_transcript_exon_variant,,ENST00000513192,;PIGG,non_coding_transcript_exon_variant,,ENST00000508144,;PIGG,non_coding_transcript_exon_variant,,ENST00000511666,;							MODERATE	2584/2952	N862Y	PIGG_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000415203		CCDS46992.1			1	
CD209	0	LGGM	GRCh37	19	7810517	7810517	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	28	3	.	.	ENST00000315599.7:c.635A>T	p.Gln212Leu	p.Q212L	ENST00000315599	NM_021155.3	212	cAg/cTg	0	1	1	UPI000003422C	0	getma.org/pdb.php?prot=CD209_HUMAN&from=201&to=272&var=Q212L	ENST00000315599		ENSG00000090659	1641		31	0.075		HGNC	p.Q168L	COSM221847,COSM221848	CD209		SNV			1			1,1	ENST00000204801	protein_coding	getma.org/?cm=var&var=hg19,19,7810517,T,A&fts=all		hmmpanther:PTHR22802:SF205,hmmpanther:PTHR22802,Superfamily_domains:SSF56436		Q/L		A	neutral	658/4280		getma.org/?cm=msa&ty=f&p=CD209_HUMAN&rb=201&re=272&var=Q212L	tolerated(0.56)	B4E2A8_HUMAN			YES	CD209,missense_variant,p.Gln212Leu,ENST00000315599,NM_021155.3,NM_001144895.1,NM_001144897.1;CD209,missense_variant,p.Gln188Leu,ENST00000601951,;CD209,missense_variant,p.Gln212Leu,ENST00000354397,;CD209,missense_variant,p.Gln188Leu,ENST00000315591,NM_001144896.1;CD209,missense_variant,p.Gln168Leu,ENST00000204801,;CD209,missense_variant,p.Gln188Leu,ENST00000601256,;CD209,intron_variant,,ENST00000301357,NM_001144894.1;CD209,intron_variant,,ENST00000593660,;CD209,intron_variant,,ENST00000394173,NM_001144899.1;CD209,intron_variant,,ENST00000602261,;CD209,intron_variant,,ENST00000593821,NM_001144893.1;CD209,intron_variant,,ENST00000394161,;					1,1		MODERATE	635/1215	Q212L	CD209_HUMAN			Transcript		benign(0.001)	.	ENSP00000315477		CCDS12186.1			1	
CKAP5	0	LGGM	GRCh37	11	46819432	46819432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	30	3	.	.	ENST00000529230.1:c.1261G>T	p.Ala421Ser	p.A421S	ENST00000529230		421	Gca/Tca	0	1	1	UPI000013F21E	0	NA	ENST00000529230		ENSG00000175216	28959		33	1.62		HGNC	p.A421S		CKAP5		SNV							ENST00000354558	protein_coding	getma.org/?cm=var&var=hg19,11,46819432,C,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF12348,hmmpanther:PTHR12609,hmmpanther:PTHR12609:SF0,Superfamily_domains:SSF48371		A/S		A	low	1308/7121		getma.org/?cm=msa&ty=f&p=CKAP5_HUMAN&rb=401&re=439&var=A421S	tolerated(0.09)	E9PQH5_HUMAN			YES	CKAP5,missense_variant,p.Ala421Ser,ENST00000529230,;CKAP5,missense_variant,p.Ala421Ser,ENST00000415402,NM_001008938.3;CKAP5,missense_variant,p.Ala421Ser,ENST00000312055,NM_014756.3;CKAP5,missense_variant,p.Ala421Ser,ENST00000354558,;CKAP5,non_coding_transcript_exon_variant,,ENST00000532321,;							MODERATE	1261/6099	A421S	CKAP5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000432768		CCDS31477.1			1	
ZNF835	0	LGGM	GRCh37	19	57176438	57176438	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	42	3	.	.	ENST00000537055.2:c.129G>T	p.Lys43Asn	p.K43N	ENST00000537055	NM_001005850.2	43	aaG/aaT	0	1	1	UPI0000EE7244	0	NA	ENST00000537055		ENSG00000127903	34332		45	0.695		HGNC	p.K43N		ZNF835		SNV							ENST00000537055	protein_coding	getma.org/?cm=var&var=hg19,19,57176438,C,A&fts=all				K/N		A	neutral	361/2779		getma.org/?cm=msa&ty=f&p=ZN835_HUMAN&rb=1&re=145&var=K65N	tolerated(0.1)	M0QYX0_HUMAN			YES	ZNF835,missense_variant,p.Lys43Asn,ENST00000537055,NM_001005850.2;ZNF835,missense_variant,p.Lys43Asn,ENST00000601659,;							MODERATE	129/1614	K65N	ZN835_HUMAN			Transcript		benign(0.015)	.	ENSP00000444747		CCDS56105.1			1	
GRB2	0	LGGM	GRCh37	17	73317862	73317862	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	22	3	.	.	ENST00000392562.1:c.346G>T	p.Gly116Trp	p.G116W	ENST00000392562		116	Ggg/Tgg	0	1		UPI000004EF93	0	getma.org/pdb.php?prot=GRB2_HUMAN&from=60&to=135&var=G116W	ENST00000316804		ENSG00000177885	4566		25	4.24		HGNC	p.G75W		GRB2		SNV							ENST00000316615	protein_coding	getma.org/?cm=var&var=hg19,17,73317862,C,A&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,PROSITE_profiles:PS50001,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF27,SMART_domains:SM00252,Superfamily_domains:SSF55550		G/W		A	high	648/3248		getma.org/?cm=msa&ty=f&p=GRB2_HUMAN&rb=60&re=135&var=G116W	deleterious(0)	J3KT38_HUMAN,B0LPF3_HUMAN				GRB2,missense_variant,p.Gly116Trp,ENST00000392562,;GRB2,missense_variant,p.Gly116Trp,ENST00000316804,NM_002086.4;GRB2,missense_variant,p.Gly116Trp,ENST00000392564,;GRB2,missense_variant,p.Gly75Trp,ENST00000316615,NM_203506.2;GRB2,missense_variant,p.Gly75Trp,ENST00000392563,;GRB2,intron_variant,,ENST00000578961,;GRB2,downstream_gene_variant,,ENST00000582582,;GRB2,upstream_gene_variant,,ENST00000581959,;GRB2,non_coding_transcript_exon_variant,,ENST00000462266,;AC011933.1,upstream_gene_variant,,ENST00000535682,;							MODERATE	346/654	G116W	GRB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339007		CCDS11721.1			1	
HMCN1	0	LGGM	GRCh37	1	186064519	186064519	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	44	3	.	.	ENST00000271588.4:c.10439C>T	p.Ala3480Val	p.A3480V	ENST00000271588	NM_031935.2	3480	gCc/gTc	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3437&to=3523&var=A3480V	ENST00000271588		ENSG00000143341	19194		47	1.065		HGNC	p.A3480V		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186064519,C,T&fts=all		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		A/V		T	low	10668/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3437&re=3523&var=A3480V					YES	HMCN1,missense_variant,p.Ala3480Val,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ala3480Val,ENST00000367492,;							MODERATE	10439/16908	A3480V	HMCN1_HUMAN			Transcript		benign(0.111)	.	ENSP00000271588		CCDS30956.1			1	
MR1	0	LGGM	GRCh37	1	181021551	181021551	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	46	3	.	.	ENST00000367580.5:c.785C>A	p.Ala262Glu	p.A262E	ENST00000367580	NM_001531.2	262	gCg/gAg	0	1	1	UPI0000072BD9	0	getma.org/pdb.php?prot=HMR1_HUMAN&from=209&to=290&var=A262E	ENST00000367580		ENSG00000153029	4975		49	1.07		HGNC	p.A217E		MR1		SNV							ENST00000367579	protein_coding	getma.org/?cm=var&var=hg19,1,181021551,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF141,SMART_domains:SM00407,Superfamily_domains:SSF48726		A/E		A	low	790/7704		getma.org/?cm=msa&ty=f&p=HMR1_HUMAN&rb=209&re=290&var=A262E	deleterious(0)				YES	MR1,missense_variant,p.Ala262Glu,ENST00000367580,NM_001531.2;MR1,missense_variant,p.Ala217Glu,ENST00000367579,NM_001194999.1;MR1,intron_variant,,ENST00000282990,NM_001195000.1;MR1,intron_variant,,ENST00000434571,NM_001195035.1;MR1,intron_variant,,ENST00000438435,;MR1,downstream_gene_variant,,ENST00000367578,;MR1,downstream_gene_variant,,ENST00000486453,;							MODERATE	785/1026	A262E	HMR1_HUMAN			Transcript		benign(0.087)	.	ENSP00000356552		CCDS1342.1			1	
MORF4L2	0	LGGM	GRCh37	X	102931798	102931798	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	32	3	.	.	ENST00000423833.2:c.158C>A	p.Pro53Gln	p.P53Q	ENST00000423833		53	cCa/cAa	0	1		UPI000012F567	0	NA	ENST00000360458		ENSG00000123562	16849		35	0.55		HGNC	p.P53Q		MORF4L2		SNV							ENST00000451301	protein_coding	getma.org/?cm=var&var=hg19,X,102931798,G,T&fts=all		hmmpanther:PTHR10880:SF25,hmmpanther:PTHR10880		P/Q		T	neutral	450/1824		getma.org/?cm=msa&ty=f&p=MO4L2_HUMAN&rb=1&re=90&var=P53Q	tolerated(0.09)	Q5JXX6_HUMAN,Q5JXX4_HUMAN,Q5JXX3_HUMAN,Q5JXX2_HUMAN,Q5JXX1_HUMAN,B4DXQ8_HUMAN,B3KWX6_HUMAN				MORF4L2,missense_variant,p.Pro53Gln,ENST00000423833,;MORF4L2,missense_variant,p.Pro53Gln,ENST00000422154,NM_001142418.1,NM_001142424.1,NM_001142429.1;MORF4L2,missense_variant,p.Pro53Gln,ENST00000433176,NM_001142432.1,NM_001142428.1,NM_001142422.1;MORF4L2,missense_variant,p.Pro53Gln,ENST00000451301,NM_001142426.1;MORF4L2,missense_variant,p.Pro53Gln,ENST00000441076,NM_012286.2,NM_001142419.1;MORF4L2,missense_variant,p.Pro53Gln,ENST00000360458,NM_001142421.1,NM_001142427.1,NM_001142425.1,NM_001142423.1;MORF4L2,missense_variant,p.Pro53Gln,ENST00000434230,;MORF4L2,missense_variant,p.Pro53Gln,ENST00000442614,;MORF4L2,missense_variant,p.Pro53Gln,ENST00000418819,;MORF4L2,missense_variant,p.Pro53Gln,ENST00000422355,;MORF4L2,non_coding_transcript_exon_variant,,ENST00000492116,;MORF4L2,downstream_gene_variant,,ENST00000474653,;MORF4L2,downstream_gene_variant,,ENST00000498064,;MORF4L2,downstream_gene_variant,,ENST00000467755,;							MODERATE	158/867	P53Q	MO4L2_HUMAN			Transcript		benign(0.006)	.	ENSP00000353643		CCDS14512.1			1	
AMACR	0	LGGM	GRCh37	5	33998871	33998871	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	30	3	.	.	ENST00000382085.3:c.614A>G	p.Glu205Gly	p.E205G	ENST00000382085		205	gAa/gGa	0	1		UPI00001AE675	0	getma.org/pdb.php?prot=AMACR_HUMAN&from=53&to=244&var=E205G	ENST00000335606		ENSG00000242110	451		33	-0.48		HGNC	p.E205G		AMACR		SNV			1				ENST00000335606	protein_coding	getma.org/?cm=var&var=hg19,5,33998871,T,C&fts=all		Pfam_domain:PF02515,hmmpanther:PTHR11837,hmmpanther:PTHR11837:SF8,Superfamily_domains:SSF89796		E/G		C	neutral	703/4153		getma.org/?cm=msa&ty=f&p=AMACR_HUMAN&rb=53&re=244&var=E205G	tolerated(0.94)					AMACR,missense_variant,p.Glu205Gly,ENST00000335606,NM_001167595.1,NM_014324.5;AMACR,missense_variant,p.Glu190Gly,ENST00000502637,;AMACR,missense_variant,p.Glu205Gly,ENST00000426255,;AMACR,missense_variant,p.Glu205Gly,ENST00000382085,;AMACR,missense_variant,p.Glu205Gly,ENST00000512079,;AMACR,synonymous_variant,p.=,ENST00000382072,NM_203382.2;AMACR,synonymous_variant,p.=,ENST00000382068,;AMACR,synonymous_variant,p.=,ENST00000441713,;AMACR,non_coding_transcript_exon_variant,,ENST00000514195,;AMACR,synonymous_variant,p.=,ENST00000506639,;RP11-1084J3.4,3_prime_UTR_variant,,ENST00000382079,;RP11-1084J3.3,upstream_gene_variant,,ENST00000515618,;							MODERATE	614/1149	E205G	AMACR_HUMAN			Transcript		benign(0.005)	.	ENSP00000334424		CCDS3902.1			1	
PNMA1	0	LGGM	GRCh37	14	74179947	74179947	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	68	4	.	.	ENST00000316836.3:c.396G>T	p.Pro132=	p.P132=	ENST00000316836	NM_006029.4	132	ccG/ccT	0	1	1	UPI000003779C	0		ENST00000316836		ENSG00000176903	9158		72			HGNC	p.P132P		PNMA1		SNV							ENST00000316836	protein_coding			hmmpanther:PTHR23095:SF17,hmmpanther:PTHR23095,Pfam_domain:PF14893		P		A		1182/2635							YES	PNMA1,synonymous_variant,p.=,ENST00000316836,NM_006029.4;ELMSAN1,downstream_gene_variant,,ENST00000286523,NM_194278.3;ELMSAN1,downstream_gene_variant,,ENST00000394071,NM_001043318.1;ELMSAN1,downstream_gene_variant,,ENST00000476562,;							LOW	396/1062		PNMA1_HUMAN			Transcript			.	ENSP00000318914		CCDS9818.1			1	
CCBL2	0	LGGM	GRCh37	1	89434433	89434433	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	30	4	.	.	ENST00000260508.4:c.223A>G	p.Ile75Val	p.I75V	ENST00000260508	NM_001008661.2	75	Ata/Gta	0	1	1	UPI0000155712	0	getma.org/pdb.php?prot=KAT3_HUMAN&from=63&to=446&var=I75V	ENST00000260508		ENSG00000137944	33238		34	1.335		HGNC	p.I75V		CCBL2		SNV							ENST00000260508	protein_coding	getma.org/?cm=var&var=hg19,1,89434433,T,C&fts=all		Pfam_domain:PF00155,hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF336,Superfamily_domains:SSF53383		I/V		C	low	561/2070		getma.org/?cm=msa&ty=f&p=KAT3_HUMAN&rb=63&re=446&var=I75V	deleterious(0.02)	B4DW13_HUMAN			YES	CCBL2,missense_variant,p.Ile75Val,ENST00000260508,NM_001008661.2;CCBL2,missense_variant,p.Ile41Val,ENST00000370491,NM_001008662.2;CCBL2,missense_variant,p.Ile75Val,ENST00000370485,;CCBL2,missense_variant,p.Ile75Val,ENST00000370486,;CCBL2,non_coding_transcript_exon_variant,,ENST00000446900,;							MODERATE	223/1365	I75V	KAT3_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000260508		CCDS30766.1			1	
STT3B	0	LGGM	GRCh37	3	31665172	31665172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	45	4	.	.	ENST00000295770.2:c.1546A>G	p.Lys516Glu	p.K516E	ENST00000295770	NM_178862.1	516	Aaa/Gaa	0	1	1	UPI000006D7FB	0	NA	ENST00000295770		ENSG00000163527	30611		49	2.37		HGNC	p.K516E		STT3B		SNV			1				ENST00000295770	protein_coding	getma.org/?cm=var&var=hg19,3,31665172,A,G&fts=all		Pfam_domain:PF02516,hmmpanther:PTHR13872,hmmpanther:PTHR13872:SF1		K/E		G	medium	1755/4246		getma.org/?cm=msa&ty=f&p=STT3B_HUMAN&rb=71&re=729&var=K516E	tolerated(0.09)				YES	STT3B,missense_variant,p.Lys516Glu,ENST00000295770,NM_178862.1;STT3B,downstream_gene_variant,,ENST00000453168,;STT3B,downstream_gene_variant,,ENST00000423527,;STT3B,upstream_gene_variant,,ENST00000463044,;STT3B,downstream_gene_variant,,ENST00000436236,;							MODERATE	1546/2481	K516E	STT3B_HUMAN			Transcript		benign(0.219)	.	ENSP00000295770		CCDS2650.1			1	
CASD1	0	LGGM	GRCh37	7	94164732	94164732	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	77	4	.	.	ENST00000297273.4:c.740C>G	p.Ser247Cys	p.S247C	ENST00000297273	NM_022900.4	247	tCt/tGt	0	1	1	UPI0000070404	0	NA	ENST00000297273		ENSG00000127995	16014		81	1.15		HGNC	p.S247C		CASD1		SNV							ENST00000297273	protein_coding	getma.org/?cm=var&var=hg19,7,94164732,C,G&fts=all		Pfam_domain:PF13839,hmmpanther:PTHR13533,hmmpanther:PTHR13533:SF8		S/C		G	low	1027/3942		getma.org/?cm=msa&ty=f&p=CASD1_HUMAN&rb=74&re=292&var=S247C	deleterious(0.02)	C9JDR3_HUMAN			YES	CASD1,missense_variant,p.Ser247Cys,ENST00000297273,NM_022900.4;CASD1,downstream_gene_variant,,ENST00000447923,;CASD1,3_prime_UTR_variant,,ENST00000443644,;							MODERATE	740/2394	S247C	CASD1_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000297273		CCDS5636.1			1	
ZKSCAN4	0	LGGM	GRCh37	6	28213655	28213655	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	51	4	.	.	ENST00000377294.2:c.877C>A	p.Gln293Lys	p.Q293K	ENST00000377294	NM_019110.3	293	Cag/Aag	0	1	1	UPI000013C355	0	NA	ENST00000377294		ENSG00000187626	13854		55	1.32		HGNC	p.Q293K		ZKSCAN4		SNV							ENST00000377294	protein_coding	getma.org/?cm=var&var=hg19,6,28213655,G,T&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF57,PROSITE_profiles:PS50805		Q/K		T	low	1121/2375		getma.org/?cm=msa&ty=f&p=ZKSC4_HUMAN&rb=221&re=317&var=Q293K	tolerated(0.31)	B7Z7H3_HUMAN			YES	ZKSCAN4,missense_variant,p.Gln293Lys,ENST00000377294,NM_019110.3;ZKSCAN4,missense_variant,p.Gln138Lys,ENST00000423974,;							MODERATE	877/1638	Q293K	ZKSC4_HUMAN			Transcript		benign(0.005)	.	ENSP00000366509		CCDS4647.1			1	
ABCB7	0	LGGM	GRCh37	X	74284992	74284992	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	13	4	.	.	ENST00000253577.3:c.1747G>A	p.Ala583Thr	p.A583T	ENST00000253577	NM_001271696.1	583	Gca/Aca	0	1		UPI0000125116	0	getma.org/pdb.php?prot=ABCB7_HUMAN&from=512&to=637&var=A582T	ENST00000373394		ENSG00000131269	48		17	1.85		HGNC	p.A556T	COSM1125272	ABCB7		SNV			1			1	ENST00000529949	protein_coding	getma.org/?cm=var&var=hg19,X,74284992,C,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF18,PROSITE_profiles:PS50893		A/T		T	low	1752/2353		getma.org/?cm=msa&ty=f&p=ABCB7_HUMAN&rb=512&re=637&var=A582T	deleterious(0.04)					ABCB7,missense_variant,p.Ala583Thr,ENST00000253577,NM_001271696.1,NM_004299.4;ABCB7,missense_variant,p.Ala582Thr,ENST00000373394,;ABCB7,missense_variant,p.Ala542Thr,ENST00000339447,NM_001271699.1,NM_001271697.1;ABCB7,missense_variant,p.Ala556Thr,ENST00000529949,NM_001271698.1;ABCB7,downstream_gene_variant,,ENST00000534570,;ABCB7,upstream_gene_variant,,ENST00000490858,;ABCB7,downstream_gene_variant,,ENST00000469368,;					1		MODERATE	1744/2259	A582T	ABCB7_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000362492		CCDS65291.1			1	
KIAA1468	0	LGGM	GRCh37	18	59949611	59949611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	90	4	.	.	ENST00000398130.2:c.3187C>A	p.His1063Asn	p.H1063N	ENST00000398130	NM_020854.3	1063	Cat/Aat	0	1	1	UPI0000DA5AF7	0	NA	ENST00000398130		ENSG00000134444	29289		94	1.1		HGNC	p.H1063N		KIAA1468		SNV							ENST00000398130	protein_coding	getma.org/?cm=var&var=hg19,18,59949611,C,A&fts=all		hmmpanther:PTHR32059,hmmpanther:PTHR32059:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		H/N		A	low	3419/5471		getma.org/?cm=msa&ty=f&p=K1468_HUMAN&rb=511&re=1214&var=H1063N	tolerated(0.16)	Q96ES0_HUMAN			YES	KIAA1468,missense_variant,p.His1097Asn,ENST00000256858,;KIAA1468,missense_variant,p.His1063Asn,ENST00000398130,NM_020854.3;KIAA1468,non_coding_transcript_exon_variant,,ENST00000593217,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587764,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587714,;KIAA1468,non_coding_transcript_exon_variant,,ENST00000587198,;							MODERATE	3187/3651	H1063N	K1468_HUMAN			Transcript		benign(0.004)	.	ENSP00000381198		CCDS11979.2			1	
YIPF1	0	LGGM	GRCh37	1	54332564	54332564	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	27	4	.	.	ENST00000072644.1:c.515C>T	p.Ala172Val	p.A172V	ENST00000072644	NM_018982.4	172	gCc/gTc	0	1	1	UPI000006FF6D	0	NA	ENST00000072644		ENSG00000058799	25231		31	1.41		HGNC	p.A172V		YIPF1		SNV							ENST00000464950	protein_coding	getma.org/?cm=var&var=hg19,1,54332564,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12822:SF4,hmmpanther:PTHR12822,Pfam_domain:PF04893		A/V		A	low	852/1803		getma.org/?cm=msa&ty=f&p=YIPF1_HUMAN&rb=86&re=250&var=A172V	tolerated(0.05)				YES	YIPF1,missense_variant,p.Ala172Val,ENST00000072644,NM_018982.4;YIPF1,missense_variant,p.Ala197Val,ENST00000539954,;YIPF1,missense_variant,p.Ala172Val,ENST00000412288,;YIPF1,5_prime_UTR_variant,,ENST00000371399,;YIPF1,non_coding_transcript_exon_variant,,ENST00000469457,;YIPF1,non_coding_transcript_exon_variant,,ENST00000480151,;YIPF1,non_coding_transcript_exon_variant,,ENST00000465897,;YIPF1,missense_variant,p.Ala172Val,ENST00000464950,;							MODERATE	515/921	A172V	YIPF1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000072644		CCDS584.1			1	
CD19	0	LGGM	GRCh37	16	28948647	28948647	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	8	5	.	.	ENST00000538922.1:c.1254C>T	p.Ser418=	p.S418=	ENST00000538922	NM_001178098.1	418	tcC/tcT	0	1		UPI000006E166	0		ENST00000324662		ENSG00000177455	1633		13			HGNC	p.S418S	rs768949308,COSM4059906	CD19		SNV			1	9.79E-05		0,1	ENST00000538922	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR16674,hmmpanther:PTHR16674:SF1		S		T		1298/1932	1.52E-05			Q71UW0_HUMAN				CD19,synonymous_variant,p.=,ENST00000538922,NM_001178098.1,NM_001770.5;CD19,synonymous_variant,p.=,ENST00000324662,;CD19,synonymous_variant,p.=,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,;					0,1		LOW	1254/1671		CD19_HUMAN			Transcript			.	ENSP00000313419	1.65E-05	CCDS10644.1			1	
NPIPB5	0	LGGM	GRCh37	16	22545573	22545573	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	5	5	.	.	ENST00000424340.1:c.1269G>A	p.Ala423=	p.A423=	ENST00000424340	NM_001135865.1	423	gcG/gcA	0	1	1	UPI000181EF82	0		ENST00000424340		ENSG00000243716	37233	0.0263	10			HGNC	p.A423A	rs750593226	NPIPB5	0.00152	SNV							ENST00000424340	protein_coding			hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		A		A		1548/3801	0.00298			U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,synonymous_variant,p.=,ENST00000424340,NM_001135865.1;NPIPB5,synonymous_variant,p.=,ENST00000517539,;NPIPB5,synonymous_variant,p.=,ENST00000415833,;NPIPB5,synonymous_variant,p.=,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;	0.0641						LOW	1269/3402		NPIB5_HUMAN			Transcript			common_variant	ENSP00000440703	0.000222	CCDS45443.1			1	
CLASP1	0	LGGM	GRCh37	2	122125337	122125337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	44	5	.	.	ENST00000263710.4:c.3713G>T	p.Arg1238Leu	p.R1238L	ENST00000263710	NM_015282.2	1238	cGg/cTg	0	1	1	UPI00001A8BFF	0	NA	ENST00000263710		ENSG00000074054	17088		49	2.175		HGNC	p.R955L		CLASP1		SNV							ENST00000541859	protein_coding	getma.org/?cm=var&var=hg19,2,122125337,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567,Gene3D:1.25.10.10		R/L		A	medium	4103/8090		getma.org/?cm=msa&ty=f&p=CLAP1_HUMAN&rb=1138&re=1337&var=R1238L	deleterious(0.04)	C9JP76_HUMAN,C9J151_HUMAN			YES	CLASP1,missense_variant,p.Arg1238Leu,ENST00000263710,NM_015282.2;CLASP1,missense_variant,p.Arg1171Leu,ENST00000409078,;CLASP1,missense_variant,p.Arg1194Leu,ENST00000455322,;CLASP1,missense_variant,p.Arg1178Leu,ENST00000397587,NM_001142274.1,NM_001142273.1;CLASP1,missense_variant,p.Arg1177Leu,ENST00000541377,NM_001207051.1;CLASP1,missense_variant,p.Arg955Leu,ENST00000541859,;CLASP1,missense_variant,p.Arg945Leu,ENST00000545861,;CLASP1,3_prime_UTR_variant,,ENST00000452274,;CLASP1,non_coding_transcript_exon_variant,,ENST00000472776,;							MODERATE	3713/4617	R1238L	CLAP1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000263710					1	
ZNF215	0	LGGM	GRCh37	11	6977733	6977733	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	36	5	.	.	ENST00000278319.5:c.1525C>A	p.Gln509Lys	p.Q509K	ENST00000278319	NM_013250.2	509	Caa/Aaa	0	1	1	UPI000013DB6D	0	getma.org/pdb.php?prot=ZN215_HUMAN&from=490&to=512&var=Q509K	ENST00000278319		ENSG00000149054	13007		41	0.71		HGNC	p.Q509K		ZNF215		SNV							ENST00000278319	protein_coding	getma.org/?cm=var&var=hg19,11,6977733,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF65,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/K		A	neutral	2113/3448		getma.org/?cm=msa&ty=f&p=ZN215_HUMAN&rb=470&re=517&var=Q509K	deleterious(0.01)				YES	ZNF215,missense_variant,p.Gln509Lys,ENST00000278319,NM_013250.2;ZNF215,missense_variant,p.Gln509Lys,ENST00000414517,;ZNF215,intron_variant,,ENST00000529903,;ZNF215,non_coding_transcript_exon_variant,,ENST00000532533,;ZNF215,downstream_gene_variant,,ENST00000527171,;ZNF215,downstream_gene_variant,,ENST00000529755,;							MODERATE	1525/1554	Q509K	ZN215_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000278319		CCDS7775.1			1	
ZIC1	0	LGGM	GRCh37	3	147128137	147128139	+	inframe_deletion	In_Frame_Del	DEL	CAC	CAC	-	novel	by Submitter	H093030	H093030N.bam	CAC	CAC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	11	5	.	.	ENST00000282928.4:c.240_242del	p.His82del	p.H82del	ENST00000282928	NM_003412.3	80	CAC/-	0	1	1	UPI000013DD09	0		ENST00000282928		ENSG00000152977	12872		16			HGNC	p.80_80del		ZIC1		deletion			1				ENST00000282928	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26		H/-		-		967-969/5241							YES	ZIC1,inframe_deletion,p.His82del,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,;							MODERATE	238-240/1344		ZIC1_HUMAN			Transcript	2		.	ENSP00000282928		CCDS3136.1			1	
CUBN	0	LGGM	GRCh37	10	16967683	16967683	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	33	5	.	.	ENST00000377833.4:c.6362A>G	p.His2121Arg	p.H2121R	ENST00000377833	NM_001081.3	2121	cAc/cGc	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=2092&to=2210&var=H2121R	ENST00000377833		ENSG00000107611	2548		38	1.155		HGNC	p.H2121R		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,16967683,T,C&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		H/R		C	low	6428/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=2092&re=2210&var=H2121R	tolerated(0.07)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.His2121Arg,ENST00000377833,NM_001081.3;							MODERATE	6362/10872	H2121R	CUBN_HUMAN			Transcript		benign(0.246)	.	ENSP00000367064		CCDS7113.1			1	
C5orf52	0	LGGM	GRCh37	5	157102198	157102198	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	49	6	.	.	ENST00000409999.3:c.311A>G	p.Tyr104Cys	p.Y104C	ENST00000409999	NM_001145132.1	104	tAt/tGt	0	1	1	UPI00001D7EEB	0	NA	ENST00000409999		ENSG00000187658	35121		55	0.55		HGNC	p.Y104C		C5orf52		SNV							ENST00000409999	protein_coding	getma.org/?cm=var&var=hg19,5,157102198,A,G&fts=all				Y/C		G	neutral	373/686		getma.org/?cm=msa&ty=f&p=CE052_HUMAN&rb=46&re=149&var=Y104C	tolerated(0.1)				YES	C5orf52,missense_variant,p.Tyr104Cys,ENST00000409999,NM_001145132.1;SOX30,upstream_gene_variant,,ENST00000519442,;							MODERATE	311/480	Y104C	CE052_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000387027		CCDS47329.1			1	
ZNF827	0	LGGM	GRCh37	4	146807223	146807223	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	11	6	.	.	ENST00000379448.4:c.1354A>G	p.Met452Val	p.M452V	ENST00000379448	NM_178835.3	452	Atg/Gtg	0	1		UPI0000DA58F8	0	NA	ENST00000508784		ENSG00000151612	27193		17	1.275		HGNC	p.M452V		ZNF827		SNV							ENST00000379448	protein_coding	getma.org/?cm=var&var=hg19,4,146807223,T,C&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4,SMART_domains:SM00355		M/V		C	low	1582/7463		getma.org/?cm=msa&ty=f&p=ZN827_HUMAN&rb=413&re=477&var=M452V	deleterious(0.04)					ZNF827,missense_variant,p.Met452Val,ENST00000508784,;ZNF827,missense_variant,p.Met452Val,ENST00000379448,NM_178835.3;ZNF827,missense_variant,p.Met102Val,ENST00000513320,;ZNF827,non_coding_transcript_exon_variant,,ENST00000508995,;ZNF827,upstream_gene_variant,,ENST00000513840,;							MODERATE	1354/3246	M452V	ZN827_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000421863					1	
TBCK	0	LGGM	GRCh37	4	107016721	107016721	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	49	6	.	.	ENST00000273980.5:c.2489A>T	p.Gln830Leu	p.Q830L	ENST00000273980		830	cAg/cTg	0	1	1	UPI000013EF70	0	NA	ENST00000273980		ENSG00000145348	28261		55	1.355		HGNC	p.Q830L		TBCK		SNV							ENST00000432496	protein_coding	getma.org/?cm=var&var=hg19,4,107016721,T,A&fts=all		PROSITE_profiles:PS50206,Gene3D:3.40.250.10,Pfam_domain:PF00581,SMART_domains:SM00450,Superfamily_domains:SSF52821		Q/L		A	low	2937/8101		getma.org/?cm=msa&ty=f&p=TBCK_HUMAN&rb=783&re=883&var=Q830L	tolerated(0.33)	D6RDY5_HUMAN,D6RDG2_HUMAN,D6RC61_HUMAN,D6R950_HUMAN			YES	TBCK,missense_variant,p.Gln830Leu,ENST00000273980,;TBCK,missense_variant,p.Gln830Leu,ENST00000432496,NM_001163436.1;TBCK,missense_variant,p.Gln791Leu,ENST00000394706,NM_001163437.1;TBCK,missense_variant,p.Gln767Leu,ENST00000361687,NM_033115.3;TBCK,missense_variant,p.Gln830Leu,ENST00000394708,NM_001163435.1;TBCK,3_prime_UTR_variant,,ENST00000467183,;TBCK,non_coding_transcript_exon_variant,,ENST00000510927,;							MODERATE	2489/2682	Q830L	TBCK_HUMAN			Transcript		benign(0.005)	.	ENSP00000273980		CCDS54788.1			1	
CDC45	0	LGGM	GRCh37	22	19506381	19506381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	25	6	.	.	ENST00000437685.2:c.1747G>T	p.Ala583Ser	p.A583S	ENST00000437685	NM_001178010.2	583	Gct/Tct	0	1		UPI0000000C75	0	NA	ENST00000263201		ENSG00000093009	1739		31	-0.44		HGNC	p.A505S		CDC45		SNV							ENST00000404724	protein_coding	getma.org/?cm=var&var=hg19,22,19506381,G,T&fts=all		Pfam_domain:PF02724,hmmpanther:PTHR10507,hmmpanther:PTHR10507:SF0		A/S		T	neutral	1727/1909		getma.org/?cm=msa&ty=f&p=CDC45_HUMAN&rb=18&re=566&var=A551S	tolerated(0.69)	C9K087_HUMAN				CDC45,missense_variant,p.Ala551Ser,ENST00000407835,;CDC45,missense_variant,p.Ala583Ser,ENST00000437685,NM_001178010.2;CDC45,missense_variant,p.Ala551Ser,ENST00000263201,NM_003504.4;CDC45,missense_variant,p.Ala505Ser,ENST00000404724,NM_001178011.2;CLDN5,downstream_gene_variant,,ENST00000406028,;CLDN5,downstream_gene_variant,,ENST00000403084,NM_001130861.1;CLDN5,downstream_gene_variant,,ENST00000413119,NM_003277.3;CDC45,non_coding_transcript_exon_variant,,ENST00000493724,;CDC45,downstream_gene_variant,,ENST00000471470,;							MODERATE	1651/1701	A551S	CDC45_HUMAN			Transcript		benign(0.002)	.	ENSP00000263201		CCDS13762.1			1	
UTP20	0	LGGM	GRCh37	12	101711319	101711319	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	23	6	.	.	ENST00000261637.4:c.2616A>G	p.Lys872=	p.K872=	ENST00000261637	NM_014503.2	872	aaA/aaG	0	1	1	UPI00001FB38B	0		ENST00000261637		ENSG00000120800	17897		29			HGNC	p.K872K		UTP20		SNV							ENST00000261637	protein_coding			hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11		K		G		2790/9025							YES	UTP20,synonymous_variant,p.=,ENST00000261637,NM_014503.2;							LOW	2616/8358		UTP20_HUMAN			Transcript			.	ENSP00000261637		CCDS9081.1			1	
USP45	0	LGGM	GRCh37	6	99949829	99949829	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	10	6	.	.	ENST00000327681.6:c.478+1812G>C		*160*	ENST00000327681	NM_001080481.1			0	1	1	UPI0000253B80	0		ENST00000327681		ENSG00000123552	20080		16			HGNC	p.E179Q		USP45		SNV							ENST00000369231	protein_coding							G		-/6255				F5H1L5_HUMAN,D6RE98_HUMAN			YES	USP45,missense_variant,p.Glu179Gln,ENST00000369231,;USP45,intron_variant,,ENST00000327681,NM_001080481.1;USP45,intron_variant,,ENST00000392738,;USP45,intron_variant,,ENST00000500704,;USP45,intron_variant,,ENST00000369233,;USP45,intron_variant,,ENST00000472914,;USP45,intron_variant,,ENST00000329966,;USP45,non_coding_transcript_exon_variant,,ENST00000369232,;USP45,intron_variant,,ENST00000496518,;USP45,intron_variant,,ENST00000506871,;USP45,intron_variant,,ENST00000507717,;							MODIFIER	-/2445		UBP45_HUMAN			Transcript			.	ENSP00000333376		CCDS34501.1			1	
FAM184B	0	LGGM	GRCh37	4	17636665	17636665	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	42	6	.	.	ENST00000265018.3:c.2856T>C	p.Asn952=	p.N952=	ENST00000265018	NM_015688.1	952	aaT/aaC	0	1	1	UPI000020BD7C	0		ENST00000265018		ENSG00000047662	29235		48			HGNC	p.N952N		FAM184B		SNV							ENST00000265018	protein_coding			hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870		N		G		3069/6622							YES	FAM184B,synonymous_variant,p.=,ENST00000265018,NM_015688.1;MED28,downstream_gene_variant,,ENST00000237380,NM_025205.3;MED28,downstream_gene_variant,,ENST00000499786,;							LOW	2856/3183		F184B_HUMAN			Transcript			.	ENSP00000265018		CCDS47033.1			1	
PTPRN2	0	LGGM	GRCh37	7	157931008	157931008	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	14	7	.	.	ENST00000389418.4:c.1110C>G	p.Thr370=	p.T370=	ENST00000389418	NM_002847.3	370	acC/acG	0	1	1	UPI000002E7C7	0		ENST00000389418		ENSG00000155093	9677		21			HGNC	p.T353T		PTPRN2		SNV							ENST00000389416	protein_coding					T		C		1120/4706				Q9NSR5_HUMAN			YES	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,;							LOW	1110/3048		PTPR2_HUMAN			Transcript			.	ENSP00000374069		CCDS5947.1			1	
GALNT8	0	LGGM	GRCh37	12	4853738	4853738	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	14	7	.	.	ENST00000252318.2:c.732A>T	p.Pro244=	p.P244=	ENST00000252318	NM_017417.1	244	ccA/ccT	0	1	1	UPI0000070DEC	0		ENST00000252318		ENSG00000130035	4130		21			HGNC	p.P244P		GALNT8		SNV							ENST00000252318	protein_coding			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF13,Pfam_domain:PF00535,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		P		T		1069/2380				Q68VJ3_HUMAN			YES	GALNT8,synonymous_variant,p.=,ENST00000252318,NM_017417.1;RP11-234B24.6,3_prime_UTR_variant,,ENST00000544741,;							LOW	732/1914		GALT8_HUMAN			Transcript			.	ENSP00000252318		CCDS8533.1			1	
PLEKHH2	0	LGGM	GRCh37	2	43973083	43973083	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	21	7	.	.	ENST00000282406.4:c.3634C>G	p.Arg1212Gly	p.R1212G	ENST00000282406	NM_172069.3	1212	Cgt/Ggt	0	1	1	UPI000016021B	0	getma.org/pdb.php?prot=PKHH2_HUMAN&from=1121&to=1451&var=R1212G	ENST00000282406		ENSG00000152527	30506		28	2.255		HGNC	p.R1212G		PLEKHH2		SNV							ENST00000282406	protein_coding	getma.org/?cm=var&var=hg19,2,43973083,C,G&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,SMART_domains:SM00295		R/G		G	medium	3744/6981		getma.org/?cm=msa&ty=f&p=PKHH2_HUMAN&rb=1121&re=1451&var=R1212G	deleterious(0)				YES	PLEKHH2,missense_variant,p.Arg1212Gly,ENST00000282406,NM_172069.3;PLEKHH2,missense_variant,p.Arg16Gly,ENST00000490038,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,downstream_gene_variant,,ENST00000405223,;PLEKHH2,downstream_gene_variant,,ENST00000480103,;PLEKHH2,downstream_gene_variant,,ENST00000493408,;							MODERATE	3634/4482	R1212G	PKHH2_HUMAN			Transcript		benign(0.072)	.	ENSP00000282406		CCDS1812.1			1	
DARS2	0	LGGM	GRCh37	1	173814365	173814365	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	35	8	.	.	ENST00000361951.4:c.1129-2A>C		p.X377_splice	ENST00000361951	NM_018122.4			0	1	1	UPI00001C1D5B	0		ENST00000361951		ENSG00000117593	25538		43			HGNC	-		DARS2		SNV			1				ENST00000361951	protein_coding							C		-/3506				Q9H9J7_HUMAN			YES	DARS2,splice_acceptor_variant,,ENST00000361951,NM_018122.4;DARS2,splice_acceptor_variant,,ENST00000239457,;DARS2,splice_acceptor_variant,,ENST00000471476,;							HIGH	1129/1938		SYDM_HUMAN			Transcript			.	ENSP00000355086		CCDS1311.1			1	
SFRP2	0	LGGM	GRCh37	4	154702845	154702845	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	20	8	.	.	ENST00000274063.4:c.646A>T	p.Thr216Ser	p.T216S	ENST00000274063	NM_003013.2	216	Acc/Tcc	0	1	1	UPI000004BE89	0	NA	ENST00000274063		ENSG00000145423	10777		28	1.61		HGNC	p.T216S		SFRP2		SNV							ENST00000274063	protein_coding	getma.org/?cm=var&var=hg19,4,154702845,T,A&fts=all		PROSITE_profiles:PS50189,hmmpanther:PTHR11309:SF45,hmmpanther:PTHR11309,Pfam_domain:PF01759,Gene3D:2.40.50.120,SMART_domains:SM00643,Superfamily_domains:SSF50242		T/S		A	low	931/2032		getma.org/?cm=msa&ty=f&p=SFRP2_HUMAN&rb=187&re=288&var=T216S	tolerated(0.86)	B3KSM5_HUMAN			YES	SFRP2,missense_variant,p.Thr216Ser,ENST00000274063,NM_003013.2;							MODERATE	646/888	T216S	SFRP2_HUMAN			Transcript		benign(0.388)	.	ENSP00000274063		CCDS34082.1			1	
FANCM	0	LGGM	GRCh37	14	45658235	45658235	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	66	8	.	.	ENST00000267430.5:c.5010A>C	p.Pro1670=	p.P1670=	ENST00000267430	NM_020937.2	1670	ccA/ccC	0	1	1	UPI000059F032	0		ENST00000267430		ENSG00000187790	23168		74			HGNC	p.P1670P		FANCM		SNV			1				ENST00000267430	protein_coding			hmmpanther:PTHR14025,hmmpanther:PTHR14025:SF20		P		C		5095/7111							YES	FANCM,synonymous_variant,p.=,ENST00000267430,NM_020937.2;FANCM,synonymous_variant,p.=,ENST00000542564,;FANCM,synonymous_variant,p.=,ENST00000556250,;FANCM,synonymous_variant,p.=,ENST00000554809,;FANCM,downstream_gene_variant,,ENST00000555013,;							LOW	5010/6147		FANCM_HUMAN			Transcript			.	ENSP00000267430		CCDS32070.1			1	
UNC79	0	LGGM	GRCh37	14	94109920	94109920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	44	8	.	.	ENST00000256339.4:c.5507C>T	p.Ala1836Val	p.A1836V	ENST00000256339	NM_020818.3	1836	gCc/gTc	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		52	2.005		HGNC	p.A1836V		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94109920,C,T&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1,Superfamily_domains:SSF48371		A/V		T	medium	6038/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=A2013V	deleterious(0.04)					UNC79,missense_variant,p.Ala2035Val,ENST00000553484,;UNC79,missense_variant,p.Ala1974Val,ENST00000555664,;UNC79,missense_variant,p.Ala1836Val,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ala2013Val,ENST00000393151,;							MODERATE	6038/7908	A2013V	UNC79_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000376858					1	
HMCN1	0	LGGM	GRCh37	1	185984447	185984447	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	54	9	.	.	ENST00000271588.4:c.4787A>G	p.Tyr1596Cys	p.Y1596C	ENST00000271588	NM_031935.2	1596	tAt/tGt	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=1551&to=1635&var=Y1596C	ENST00000271588		ENSG00000143341	19194		63	2.595		HGNC	p.Y1596C		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185984447,A,G&fts=all		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		Y/C		G	medium	5016/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=1551&re=1635&var=Y1596C					YES	HMCN1,missense_variant,p.Tyr1596Cys,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Tyr1596Cys,ENST00000367492,;							MODERATE	4787/16908	Y1596C	HMCN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000271588		CCDS30956.1			1	
MRGPRX1	0	LGGM	GRCh37	11	18955385	18955385	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	63	9	.	.	ENST00000302797.3:c.947C>A	p.Ser316Ter	p.S316*	ENST00000302797	NM_147199.3	316	tCg/tAg	0	1	1	UPI000003BCCF	0	NA	ENST00000302797		ENSG00000170255	17962		72	0		HGNC	p.S316X		MRGPRX1		SNV							ENST00000302797	protein_coding	getma.org/?cm=var&var=hg19,11,18955385,G,T&fts=all		hmmpanther:PTHR11334,hmmpanther:PTHR11334:SF22		S/*		T	NA	1172/1197		NA					YES	MRGPRX1,stop_gained,p.Ser316Ter,ENST00000302797,NM_147199.3;RP11-583F24.8,upstream_gene_variant,,ENST00000528646,;MRGPRX1,downstream_gene_variant,,ENST00000526914,;							HIGH	947/969	S316*	MRGX1_HUMAN			Transcript			.	ENSP00000305766		CCDS7846.1			1	
KCND2	0	LGGM	GRCh37	7	120387793	120387793	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	21	10	.	.	ENST00000331113.4:c.1774T>G	p.Tyr592Asp	p.Y592D	ENST00000331113	NM_012281.2	592	Tat/Gat	0	1	1	UPI0000073D37	0	NA	ENST00000331113		ENSG00000184408	6238		31	-0.35		HGNC	p.Y592D		KCND2		SNV							ENST00000331113	protein_coding	getma.org/?cm=var&var=hg19,7,120387793,T,G&fts=all		Prints_domain:PR01517		Y/D		G	neutral	2739/5331		getma.org/?cm=msa&ty=f&p=KCND2_HUMAN&rb=548&re=630&var=Y592D	tolerated_low_confidence(0.25)	A4D0V9_HUMAN,Q75LS7_HUMAN			YES	KCND2,missense_variant,p.Tyr592Asp,ENST00000331113,NM_012281.2;KCND2,downstream_gene_variant,,ENST00000425288,;RP4-797C5.2,intron_variant,,ENST00000450480,;KCND2,downstream_gene_variant,,ENST00000473190,;							MODERATE	1774/1893	Y592D	KCND2_HUMAN			Transcript		benign(0.008)	.	ENSP00000333496		CCDS5776.1			1	
AKT1S1	0	LGGM	GRCh37	19	50374831	50374831	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	78	10	.	.	ENST00000391835.1:c.660G>A	p.Ala220=	p.A220=	ENST00000391835		220	gcG/gcA	0	1		UPI000006FCC4	0		ENST00000344175		ENSG00000204673	28426		88			HGNC	p.A200A	rs760806708	AKT1S1		SNV				0.000193			ENST00000391834	protein_coding			hmmpanther:PTHR21844,hmmpanther:PTHR21844:SF1		A		T		711/1760	4.52E-05			M0R2V8_HUMAN,H9KV91_HUMAN				AKT1S1,synonymous_variant,p.=,ENST00000391833,NM_001278160.1;AKT1S1,synonymous_variant,p.=,ENST00000391835,;AKT1S1,synonymous_variant,p.=,ENST00000391834,NM_032375.5;AKT1S1,synonymous_variant,p.=,ENST00000391831,NM_001278159.1;AKT1S1,synonymous_variant,p.=,ENST00000391832,NM_001098632.2;AKT1S1,synonymous_variant,p.=,ENST00000344175,NM_001098633.3;PNKP,upstream_gene_variant,,ENST00000322344,NM_007254.3;PNKP,upstream_gene_variant,,ENST00000596014,;PNKP,upstream_gene_variant,,ENST00000600573,;PNKP,upstream_gene_variant,,ENST00000600910,;AKT1S1,downstream_gene_variant,,ENST00000391830,;PNKP,upstream_gene_variant,,ENST00000596726,;PNKP,upstream_gene_variant,,ENST00000599543,;AKT1S1,downstream_gene_variant,,ENST00000599525,;PNKP,upstream_gene_variant,,ENST00000595792,;PNKP,upstream_gene_variant,,ENST00000594661,;PNKP,upstream_gene_variant,,ENST00000593946,;PNKP,upstream_gene_variant,,ENST00000598020,;							LOW	600/771		AKTS1_HUMAN			Transcript			.	ENSP00000341698	4.12E-05	CCDS12784.1			1	
GBX1	0	LGGM	GRCh37	7	150846102	150846102	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	131	10	.	.	ENST00000297537.4:c.666T>C	p.Ser222=	p.S222=	ENST00000297537	NM_001098834.1	222	tcT/tcC	0	1	1	UPI0000E2658B	0		ENST00000297537		ENSG00000164900	4185		141			HGNC	p.S222S		GBX1		SNV							ENST00000297537	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24334:SF2,hmmpanther:PTHR24334		S		G		666/1092							YES	GBX1,synonymous_variant,p.=,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,;							LOW	666/1092		GBX1_HUMAN			Transcript			.	ENSP00000297537		CCDS43682.1			1	
RORC	0	LGGM	GRCh37	1	151780032	151780032	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	18	11	.	.	ENST00000318247.6:c.1473C>T	p.Pro491=	p.P491=	ENST00000318247	NM_005060.3	491	ccC/ccT	0	1	1	UPI000006FBD8	0		ENST00000318247		ENSG00000143365	10260		29			HGNC	p.P545P		RORC		SNV							ENST00000392697	protein_coding			Gene3D:1.10.565.10,Prints_domain:PR01293,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF196,Superfamily_domains:SSF48508		P		A		1581/2180				Q6I9R9_HUMAN,D3DV25_HUMAN,B6ZGS6_HUMAN			YES	RORC,synonymous_variant,p.=,ENST00000356728,NM_001001523.1;RORC,synonymous_variant,p.=,ENST00000392697,;RORC,synonymous_variant,p.=,ENST00000318247,NM_005060.3;LINGO4,upstream_gene_variant,,ENST00000368820,NM_001004432.2;RORC,non_coding_transcript_exon_variant,,ENST00000480719,;							LOW	1473/1557		RORG_HUMAN			Transcript			.	ENSP00000327025		CCDS1004.1			1	
LPP	0	LGGM	GRCh37	3	188478034	188478034	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	33	11	.	.	ENST00000312675.4:c.1374T>C	p.Ala458=	p.A458=	ENST00000312675	NM_005578.3	458	gcT/gcC	0	1	1	UPI000002E034	0		ENST00000312675		ENSG00000145012	6679		44			HGNC	p.A458A		LPP		SNV							ENST00000312675	protein_coding			PROSITE_profiles:PS50023,hmmpanther:PTHR24207,hmmpanther:PTHR24207:SF0,Pfam_domain:PF00412,Gene3D:2.10.110.10,SMART_domains:SM00132,Superfamily_domains:SSF57716		A		C		1620/18278				C9JT42_HUMAN,C9JIY7_HUMAN,C9JE51_HUMAN,C9J5C8_HUMAN,C9J4E3_HUMAN,C9J3U9_HUMAN,C9J2R5_HUMAN,C9J1K7_HUMAN,B7Z871_HUMAN			YES	LPP,synonymous_variant,p.=,ENST00000312675,NM_005578.3,NM_001167672.1;LPP,synonymous_variant,p.=,ENST00000543006,NM_001167671.1,NM_001167672.1;LPP,non_coding_transcript_exon_variant,,ENST00000459897,;LPP,downstream_gene_variant,,ENST00000471917,;							LOW	1374/1839		LPP_HUMAN			Transcript			.	ENSP00000318089		CCDS3291.1			1	
TFAM	0	LGGM	GRCh37	10	60148565	60148565	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	42	12	.	.	ENST00000487519.1:c.427A>G	p.Met143Val	p.M143V	ENST00000487519	NM_003201.2	143	Atg/Gtg	0	1	1	UPI0000136C5F	0	getma.org/pdb.php?prot=TFAM_HUMAN&from=119&to=152&var=M143V	ENST00000487519		ENSG00000108064	11741		54	-0.55		HGNC	p.M143V		TFAM		SNV							ENST00000487519	protein_coding	getma.org/?cm=var&var=hg19,10,60148565,A,G&fts=all		hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF49		M/V		G	neutral	953/5414		getma.org/?cm=msa&ty=f&p=TFAM_HUMAN&rb=119&re=152&var=M143V	tolerated(0.69)	E5KSU5_HUMAN			YES	TFAM,missense_variant,p.Met143Val,ENST00000487519,NM_003201.2,NM_001270782.1;TFAM,missense_variant,p.Met143Val,ENST00000373895,;TFAM,missense_variant,p.Met125Val,ENST00000395377,;TFAM,non_coding_transcript_exon_variant,,ENST00000373899,;							MODERATE	427/741	M143V	TFAM_HUMAN			Transcript		benign(0)	.	ENSP00000420588		CCDS7253.1			1	
SLC24A5	0	LGGM	GRCh37	15	48434320	48434320	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	54	13	.	.	ENST00000341459.3:c.1275A>G	p.Ile425Met	p.I425M	ENST00000341459	NM_205850.2	425	atA/atG	0	1	1	UPI0000242BC9	0	NA	ENST00000341459		ENSG00000188467	20611		67	1.38		HGNC	p.I365M		SLC24A5		SNV			1				ENST00000449382	protein_coding	getma.org/?cm=var&var=hg19,15,48434320,A,G&fts=all		Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367,hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846,Transmembrane_helices:TMhelix		I/M		G	low	1348/1897		getma.org/?cm=msa&ty=f&p=NCKX5_HUMAN&rb=343&re=482&var=I425M	tolerated(0.08)				YES	SLC24A5,missense_variant,p.Ile425Met,ENST00000341459,NM_205850.2;SLC24A5,missense_variant,p.Ile365Met,ENST00000449382,;MYEF2,3_prime_UTR_variant,,ENST00000324324,NM_016132.3;MYEF2,3_prime_UTR_variant,,ENST00000267836,;MYEF2,3_prime_UTR_variant,,ENST00000560172,;MYEF2,downstream_gene_variant,,ENST00000558395,;MYEF2,non_coding_transcript_exon_variant,,ENST00000558289,;MYEF2,non_coding_transcript_exon_variant,,ENST00000560530,;SLC24A5,downstream_gene_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000559057,;							MODERATE	1275/1503	I425M	NCKX5_HUMAN			Transcript		benign(0.01)	.	ENSP00000341550		CCDS10128.1			1	
DNAH2	0	LGGM	GRCh37	17	7643813	7643813	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	24	14	.	.	ENST00000572933.1:c.1452C>T	p.Asp484=	p.D484=	ENST00000572933		484	gaC/gaT	0	1		UPI00005B2F0D	0		ENST00000389173		ENSG00000183914	2948		38			HGNC	p.D566D		DNAH2		SNV							ENST00000082259	protein_coding			Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183		D		T		1466/13505								DNAH2,synonymous_variant,p.=,ENST00000572933,;DNAH2,synonymous_variant,p.=,ENST00000389173,NM_020877.2;DNAH2,synonymous_variant,p.=,ENST00000570791,;DNAH2,synonymous_variant,p.=,ENST00000082259,;DNAH2,upstream_gene_variant,,ENST00000575498,;							LOW	1452/13284		DYH2_HUMAN			Transcript			.	ENSP00000373825		CCDS32551.1			1	
RAB25	0	LGGM	GRCh37	1	156038207	156038207	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	51	15	.	.	ENST00000361084.5:c.386T>A	p.Leu129His	p.L129H	ENST00000361084	NM_020387.2	129	cTc/cAc	0	1	1	UPI0000073C4C	0	getma.org/pdb.php?prot=RAB25_HUMAN&from=14&to=175&var=L129H	ENST00000361084		ENSG00000132698	18238		66	4.24		HGNC	p.L129H		RAB25		SNV							ENST00000361084	protein_coding	getma.org/?cm=var&var=hg19,1,156038207,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF319,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		L/H		A	high	627/1100		getma.org/?cm=msa&ty=f&p=RAB25_HUMAN&rb=14&re=175&var=L129H	deleterious_low_confidence(0)				YES	RAB25,missense_variant,p.Leu129His,ENST00000361084,NM_020387.2;MEX3A,downstream_gene_variant,,ENST00000532414,NM_001093725.1;RAB25,non_coding_transcript_exon_variant,,ENST00000487325,;RAB25,non_coding_transcript_exon_variant,,ENST00000473336,;RAB25,non_coding_transcript_exon_variant,,ENST00000497968,;RAB25,downstream_gene_variant,,ENST00000463614,;							MODERATE	386/642	L129H	RAB25_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000354376		CCDS41413.1			1	
CACNA2D3	0	LGGM	GRCh37	3	54596887	54596887	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	183	16	.	.	ENST00000474759.1:c.605A>G	p.Asn202Ser	p.N202S	ENST00000474759	NM_018398.2	202	aAc/aGc	0	1		UPI000004A7BF	0	NA	ENST00000288197		ENSG00000157445	15460		199	3.545		HGNC	p.N108S		CACNA2D3		SNV							ENST00000492460	protein_coding	getma.org/?cm=var&var=hg19,3,54596887,A,G&fts=all		hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166,Pfam_domain:PF08399,Gene3D:3.30.450.20		N/S		G	high	653/3671		getma.org/?cm=msa&ty=f&p=CA2D3_HUMAN&rb=113&re=229&var=N202S	deleterious(0.01)	C9JAV5_HUMAN				CACNA2D3,missense_variant,p.Asn202Ser,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Asn202Ser,ENST00000288197,;CACNA2D3,missense_variant,p.Asn202Ser,ENST00000415676,;CACNA2D3,missense_variant,p.Asn108Ser,ENST00000490478,;CACNA2D3,missense_variant,p.Asn108Ser,ENST00000492460,;CACNA2D3,missense_variant,p.Asn108Ser,ENST00000471363,;CACNA2D3,missense_variant,p.Asn108Ser,ENST00000477024,;CACNA2D3,3_prime_UTR_variant,,ENST00000468658,;							MODERATE	605/3276	N202S	CA2D3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000288197					1	
PIK3CA	0	LGGM	GRCh37	3	178916837	178916837	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	42	16	.	.	ENST00000263967.3:c.224A>T	p.Gln75Leu	p.Q75L	ENST00000263967	NM_006218.2	75	cAa/cTa	0	1	1	UPI000013D494	0	getma.org/pdb.php?prot=PK3CA_HUMAN&from=31&to=108&var=Q75L	ENST00000263967		ENSG00000121879	8975		58	1.59		HGNC	p.Q75L		PIK3CA		SNV			1				ENST00000468036	protein_coding	getma.org/?cm=var&var=hg19,3,178916837,A,T&fts=all		PROSITE_profiles:PS51544,hmmpanther:PTHR10048:SF54,hmmpanther:PTHR10048,Pfam_domain:PF02192,Gene3D:3.10.20.90,SMART_domains:SM00143		Q/L		T	low	381/9093		getma.org/?cm=msa&ty=f&p=PK3CA_HUMAN&rb=31&re=108&var=Q75L	tolerated(0.07)	Q4LE51_HUMAN,C9JAM9_HUMAN,C9J951_HUMAN			YES	PIK3CA,missense_variant,p.Gln75Leu,ENST00000263967,NM_006218.2;PIK3CA,missense_variant,p.Gln75Leu,ENST00000468036,;PIK3CA,downstream_gene_variant,,ENST00000477735,;							MODERATE	224/3207	Q75L	PK3CA_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000263967		CCDS43171.1			1	
PCK1	0	LGGM	GRCh37	20	56138723	56138723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	37	17	.	.	ENST00000319441.4:c.901C>A	p.Pro301Thr	p.P301T	ENST00000319441	NM_002591.3	301	Ccc/Acc	0	1	1	UPI000013CB5A	0	getma.org/pdb.php?prot=PCKGC_HUMAN&from=29&to=622&var=P301T	ENST00000319441		ENSG00000124253	8724		54	3.695		HGNC	p.P169T		PCK1		SNV			1				ENST00000535860	protein_coding	getma.org/?cm=var&var=hg19,20,56138723,C,A&fts=all		Gene3D:3.90.228.20,HAMAP:MF_00452,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Superfamily_domains:SSF53795		P/T		A	high	1065/2686		getma.org/?cm=msa&ty=f&p=PCKGC_HUMAN&rb=29&re=622&var=P301T	deleterious(0)				YES	PCK1,missense_variant,p.Pro301Thr,ENST00000319441,NM_002591.3;PCK1,missense_variant,p.Pro169Thr,ENST00000535860,;PCK1,intron_variant,,ENST00000543666,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,downstream_gene_variant,,ENST00000475833,;PCK1,downstream_gene_variant,,ENST00000498194,;PCK1,upstream_gene_variant,,ENST00000485958,;PCK1,downstream_gene_variant,,ENST00000470051,;							MODERATE	901/1869	P301T	PCKGC_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000319814		CCDS13460.1			1	
FNDC7	0	LGGM	GRCh37	1	109270632	109270632	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	52	17	.	.	ENST00000370017.3:c.1314A>T	p.Ser438=	p.S438=	ENST00000370017	NM_001144937.1	438	tcA/tcT	0	1	1	UPI000187497A	0		ENST00000370017		ENSG00000143107	26668		69			HGNC	p.S439S		FNDC7		SNV							ENST00000271311	protein_coding			Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853		S		T		1591/3332							YES	FNDC7,synonymous_variant,p.=,ENST00000370017,NM_001144937.1;FNDC7,synonymous_variant,p.=,ENST00000271311,;FNDC7,synonymous_variant,p.=,ENST00000445274,;							LOW	1314/2202		FNDC7_HUMAN			Transcript			.	ENSP00000359034		CCDS44185.1			1	
HMCN1	0	LGGM	GRCh37	1	186151334	186151334	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	59	17	.	.	ENST00000271588.4:c.16329G>C	p.Gln5443His	p.Q5443H	ENST00000271588	NM_031935.2	5443	caG/caC	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=5432&to=5471&var=Q5443H	ENST00000271588		ENSG00000143341	19194		76	1.225		HGNC	p.Q5326H	rs750003316	HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186151334,G,C&fts=all		Gene3D:2.10.25.10,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		Q/H		C	low	16558/18208	1.50E-05	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=5432&re=5471&var=Q5443H					YES	HMCN1,missense_variant,p.Gln5443His,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Gln5326His,ENST00000367492,;HMCN1,missense_variant,p.Gln118His,ENST00000414277,;GS1-174L6.4,upstream_gene_variant,,ENST00000428391,;							MODERATE	16329/16908	Q5443H	HMCN1_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000271588	8.24E-06	CCDS30956.1			1	
NEXN	0	LGGM	GRCh37	1	78383956	78383956	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	50	18	.	.	ENST00000334785.7:c.445C>A	p.Gln149Lys	p.Q149K	ENST00000334785	NM_144573.3	149	Cag/Aag	0	1	1	UPI000022ABDC	0	NA	ENST00000334785		ENSG00000162614	29557		68	1.75		HGNC	p.Q149K		NEXN		SNV			1				ENST00000294624	protein_coding	getma.org/?cm=var&var=hg19,1,78383956,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22964		Q/K		A	low	629/2607		getma.org/?cm=msa&ty=f&p=NEXN_HUMAN&rb=1&re=566&var=Q149K	deleterious_low_confidence(0.05)	B4DDI0_HUMAN			YES	NEXN,missense_variant,p.Gln85Lys,ENST00000330010,NM_001172309.1;NEXN,missense_variant,p.Gln49Lys,ENST00000342754,;NEXN,missense_variant,p.Gln149Lys,ENST00000334785,NM_144573.3;NEXN,missense_variant,p.Gln149Lys,ENST00000457030,;NEXN,missense_variant,p.Gln149Lys,ENST00000440324,;NEXN,missense_variant,p.Gln85Lys,ENST00000401035,;NEXN,missense_variant,p.Gln149Lys,ENST00000294624,;							MODERATE	445/2028	Q149K	NEXN_HUMAN			Transcript		benign(0.001)	.	ENSP00000333938		CCDS41351.1			1	
EML5	0	LGGM	GRCh37	14	89171836	89171836	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	54	18	.	.	ENST00000554922.1:c.1922A>G	p.Tyr641Cys	p.Y641C	ENST00000554922	NM_183387.2	641	tAc/tGc	0	1		UPI000183882B	0	NA	ENST00000380664		ENSG00000165521	18197		72	2.25		HGNC	p.Y641C		EML5		SNV							ENST00000352093	protein_coding	getma.org/?cm=var&var=hg19,14,89171836,T,C&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF16		Y/C		C	medium	1922/5910		getma.org/?cm=msa&ty=f&p=EMAL5_HUMAN&rb=593&re=654&var=Y641C	deleterious(0)					EML5,missense_variant,p.Tyr641Cys,ENST00000554922,NM_183387.2;EML5,missense_variant,p.Tyr641Cys,ENST00000352093,;EML5,missense_variant,p.Tyr641Cys,ENST00000380664,;EML5,3_prime_UTR_variant,,ENST00000553281,;							MODERATE	1922/5910	Y641C	EMAL5_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000370039					1	
CCNI	0	LGGM	GRCh37	4	77969709	77969709	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	16	18	.	.	ENST00000237654.4:c.797A>G	p.Lys266Arg	p.K266R	ENST00000237654	NM_006835.2	266	aAg/aGg	0	1	1	UPI000000D8E4	0	NA	ENST00000237654		ENSG00000118816	1595		34	1.61		HGNC	p.K266R		CCNI		SNV							ENST00000237654	protein_coding	getma.org/?cm=var&var=hg19,4,77969709,T,C&fts=all		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF187		K/R		C	low	1374/2772	1.51E-05	getma.org/?cm=msa&ty=f&p=CCNI_HUMAN&rb=144&re=343&var=K266R	tolerated(0.16)	D6RH01_HUMAN,D6RG12_HUMAN			YES	CCNI,missense_variant,p.Lys266Arg,ENST00000237654,NM_006835.2;CCNI,missense_variant,p.Lys252Arg,ENST00000537948,;CCNI,missense_variant,p.Lys66Arg,ENST00000515468,;							MODERATE	797/1134	K266R	CCNI_HUMAN			Transcript		benign(0.016)	.	ENSP00000237654	8.24E-06	CCDS3580.1			1	
PCLO	0	LGGM	GRCh37	7	82584811	82584811	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	155	18	.	.	ENST00000333891.9:c.5458A>C	p.Arg1820=	p.R1820=	ENST00000333891	NM_033026.5	1820	Agg/Cgg	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		173			HGNC	p.R1820R		PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		R		G		5796/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							LOW	5458/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
GBP3	0	LGGM	GRCh37	1	89480969	89480969	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	48	19	.	.	ENST00000370481.4:c.318+1G>T		p.X106_splice	ENST00000370481	NM_018284.2			0	1	1	UPI0000204D81	0		ENST00000370481		ENSG00000117226	4184		67			HGNC	-		GBP3		SNV							ENST00000370481	protein_coding							A		-/3067				F6X827_HUMAN,H3BPH2_HUMAN,F6SPX6_HUMAN			YES	GBP3,splice_donor_variant,,ENST00000370481,NM_018284.2;GBP3,splice_donor_variant,,ENST00000564665,;GBP3,upstream_gene_variant,,ENST00000461384,;GBP3,upstream_gene_variant,,ENST00000445969,;Y_RNA,downstream_gene_variant,,ENST00000365515,;GBP3,downstream_gene_variant,,ENST00000475853,;GBP3,splice_donor_variant,,ENST00000370482,;GBP3,splice_donor_variant,,ENST00000493594,;GBP3,splice_donor_variant,,ENST00000489444,;GBP3,splice_donor_variant,,ENST00000235878,;GBP3,downstream_gene_variant,,ENST00000568006,;							HIGH	318/1788		GBP3_HUMAN			Transcript			.	ENSP00000359512		CCDS717.2			1	
PDCL2	0	LGGM	GRCh37	4	56428652	56428652	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	47	19	.	.	ENST00000295645.4:c.490A>G	p.Ile164Val	p.I164V	ENST00000295645	NM_152401.2	164	Att/Gtt	0	1	1	UPI000020B8D5	0	getma.org/pdb.php?prot=PDCL2_HUMAN&from=8&to=235&var=I164V	ENST00000295645		ENSG00000163440	29524		66	1.335		HGNC	p.I164V		PDCL2		SNV							ENST00000295645	protein_coding	getma.org/?cm=var&var=hg19,4,56428652,T,C&fts=all		hmmpanther:PTHR21148:SF18,hmmpanther:PTHR21148,Gene3D:3.40.30.10,Pfam_domain:PF02114,Superfamily_domains:SSF52833		I/V		C	low	593/861		getma.org/?cm=msa&ty=f&p=PDCL2_HUMAN&rb=8&re=235&var=I164V	tolerated(0.15)				YES	PDCL2,missense_variant,p.Ile164Val,ENST00000295645,NM_152401.2;							MODERATE	490/726	I164V	PDCL2_HUMAN			Transcript		benign(0.242)	.	ENSP00000295645		CCDS47059.1			1	
FAM111B	0	LGGM	GRCh37	11	58892801	58892801	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	50	20	.	.	ENST00000343597.3:c.1231T>A	p.Trp411Arg	p.W411R	ENST00000343597	NM_198947.3	411	Tgg/Agg	0	1	1	UPI00001D77B8	0	NA	ENST00000343597		ENSG00000189057	24200		70	-0.49		HGNC	p.W411R		FAM111B		SNV			1				ENST00000343597	protein_coding	getma.org/?cm=var&var=hg19,11,58892801,T,A&fts=all		hmmpanther:PTHR14389:SF4,hmmpanther:PTHR14389		W/R		A	neutral	1422/3488		getma.org/?cm=msa&ty=f&p=F111B_HUMAN&rb=270&re=469&var=W411R	tolerated(0.85)	E9PS27_HUMAN			YES	FAM111B,missense_variant,p.Trp411Arg,ENST00000343597,NM_198947.3;FAM111B,missense_variant,p.Trp381Arg,ENST00000411426,NM_001142704.1,NM_001142703.1;FAM111B,missense_variant,p.Trp381Arg,ENST00000529618,;FAM111B,downstream_gene_variant,,ENST00000534403,;AP001258.4,downstream_gene_variant,,ENST00000501817,;							MODERATE	1231/2205	W411R	F111B_HUMAN			Transcript		benign(0.001)	.	ENSP00000341565		CCDS7972.1			1	
ARHGAP28	0	LGGM	GRCh37	18	6859868	6859868	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	80	22	.	.	ENST00000419673.2:c.221G>C	p.Ser74Thr	p.S74T	ENST00000419673	NM_001010000.2	74	aGt/aCt	0	1		UPI0001E5E846	0	NA	ENST00000383472		ENSG00000088756	25509		102	0.55		HGNC	p.S74T		ARHGAP28		SNV							ENST00000419673	protein_coding	getma.org/?cm=var&var=hg19,18,6859868,G,C&fts=all		hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5		S/T		C	neutral	802/2295		getma.org/?cm=msa&ty=f&p=RHG28_HUMAN&rb=53&re=311&var=S233T	tolerated(0.23)	J3KTC0_HUMAN,E9PL26_HUMAN				ARHGAP28,missense_variant,p.Ser74Thr,ENST00000419673,NM_001010000.2;ARHGAP28,missense_variant,p.Ser74Thr,ENST00000314319,;ARHGAP28,missense_variant,p.Ser181Thr,ENST00000262227,;ARHGAP28,missense_variant,p.Ser233Thr,ENST00000400091,;ARHGAP28,missense_variant,p.Ser233Thr,ENST00000383472,;ARHGAP28,missense_variant,p.Ser69Thr,ENST00000531294,;ARHGAP28,missense_variant,p.Ser56Thr,ENST00000532996,;ARHGAP28,missense_variant,p.Ser74Thr,ENST00000418986,;ARHGAP28,missense_variant,p.Ser74Thr,ENST00000581099,;ARHGAP28,3_prime_UTR_variant,,ENST00000577524,;ARHGAP28,3_prime_UTR_variant,,ENST00000584287,;							MODERATE	698/2190	S233T	RHG28_HUMAN			Transcript		benign(0.047)	.	ENSP00000372964					1	
PIP5K1A	0	LGGM	GRCh37	1	151206910	151206910	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	72	26	.	.	ENST00000368888.4:c.877G>A	p.Gly293Ser	p.G293S	ENST00000368888	NM_001135638.1	293	Ggt/Agt	0	1	1	UPI000006F821	0	getma.org/pdb.php?prot=PI51A_HUMAN&from=163&to=449&var=G293S	ENST00000368888		ENSG00000143398	8994		98	2.38		HGNC	p.G280S		PIP5K1A		SNV							ENST00000368890	protein_coding	getma.org/?cm=var&var=hg19,1,151206910,G,A&fts=all		Gene3D:1bo1A02,Pfam_domain:PF01504,PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF16,SMART_domains:SM00330,Superfamily_domains:SSF56104		G/S		A	medium	1299/2134		getma.org/?cm=msa&ty=f&p=PI51A_HUMAN&rb=163&re=449&var=G293S	deleterious(0.01)	P78517_HUMAN,A6PW58_HUMAN			YES	PIP5K1A,missense_variant,p.Gly280Ser,ENST00000349792,NM_003557.2;PIP5K1A,missense_variant,p.Gly281Ser,ENST00000409426,;PIP5K1A,missense_variant,p.Gly280Ser,ENST00000368890,NM_001135637.1;PIP5K1A,missense_variant,p.Gly281Ser,ENST00000441902,NM_001135636.1;PIP5K1A,missense_variant,p.Gly293Ser,ENST00000368888,NM_001135638.1;PIP5K1A,upstream_gene_variant,,ENST00000414290,;PIP5K1A,downstream_gene_variant,,ENST00000447555,;PIP5K1A,downstream_gene_variant,,ENST00000418435,;PIP5K1A,non_coding_transcript_exon_variant,,ENST00000464105,;PIP5K1A,downstream_gene_variant,,ENST00000486048,;PIP5K1A,downstream_gene_variant,,ENST00000468772,;PIP5K1A,upstream_gene_variant,,ENST00000486866,;PIP5K1A,upstream_gene_variant,,ENST00000460157,;PIP5K1A,downstream_gene_variant,,ENST00000481713,;PIP5K1A,downstream_gene_variant,,ENST00000461816,;							MODERATE	877/1689	G293S	PI51A_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000357883		CCDS44219.1			1	
CFLAR	0	LGGM	GRCh37	2	202005132	202005132	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	65	26	.	.	ENST00000309955.3:c.576G>A	p.Lys192=	p.K192=	ENST00000309955	NM_003879.5	192	aaG/aaA	0	1	1	UPI0000030475	0		ENST00000309955		ENSG00000003402	1876		91			HGNC	p.K192K		CFLAR		SNV							ENST00000342795	protein_coding			hmmpanther:PTHR10454		K		A		1091/14672				M0QYM0_HUMAN,C9JV51_HUMAN,C9JSU3_HUMAN,C9J4Q0_HUMAN,C9J408_HUMAN			YES	CFLAR,synonymous_variant,p.=,ENST00000309955,NM_003879.5,NM_001202515.1;CFLAR,synonymous_variant,p.=,ENST00000423241,NM_001127183.2;CFLAR,synonymous_variant,p.=,ENST00000341582,NM_001202516.1;CFLAR,synonymous_variant,p.=,ENST00000457277,;CFLAR,synonymous_variant,p.=,ENST00000340870,;CFLAR,synonymous_variant,p.=,ENST00000355558,;CFLAR,synonymous_variant,p.=,ENST00000443227,NM_001202519.1,NM_001202517.1;CFLAR,synonymous_variant,p.=,ENST00000342795,;CFLAR,synonymous_variant,p.=,ENST00000341222,NM_001127184.2;CFLAR,synonymous_variant,p.=,ENST00000479953,NM_001202518.1;CFLAR,synonymous_variant,p.=,ENST00000440180,;CFLAR,synonymous_variant,p.=,ENST00000494258,;CFLAR,synonymous_variant,p.=,ENST00000462763,;CFLAR,synonymous_variant,p.=,ENST00000470178,;CFLAR,downstream_gene_variant,,ENST00000395148,;RNU7-45P,upstream_gene_variant,,ENST00000459460,;CFLAR-AS1,non_coding_transcript_exon_variant,,ENST00000415011,;CFLAR-AS1,non_coding_transcript_exon_variant,,ENST00000474886,;CFLAR-AS1,downstream_gene_variant,,ENST00000594911,;CFLAR-AS1,downstream_gene_variant,,ENST00000598453,;CFLAR,synonymous_variant,p.=,ENST00000439154,;CFLAR,non_coding_transcript_exon_variant,,ENST00000474842,;CFLAR,non_coding_transcript_exon_variant,,ENST00000461422,;CFLAR,downstream_gene_variant,,ENST00000461820,;CFLAR,downstream_gene_variant,,ENST00000460961,;IMPDH1P10,upstream_gene_variant,,ENST00000440965,;							LOW	576/1443		CFLAR_HUMAN			Transcript			.	ENSP00000312455		CCDS2337.1			1	
CTNND1	0	LGGM	GRCh37	11	57575672	57575672	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093030	H093030N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	71	28	.	.	ENST00000399050.4:c.1999A>T	p.Ile667Leu	p.I667L	ENST00000399050	NM_001085458.1	667	Ata/Tta	0	1	1	UPI000012860B	0	getma.org/pdb.php?prot=CTND1_HUMAN&from=482&to=681&var=I667L	ENST00000399050		ENSG00000198561	2515		99	-0.88		HGNC	p.I560L		CTNND1		SNV							ENST00000530094	protein_coding	getma.org/?cm=var&var=hg19,11,57575672,A,T&fts=all		hmmpanther:PTHR10372:SF6,hmmpanther:PTHR10372,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		I/L		T	neutral	2535/6313		getma.org/?cm=msa&ty=f&p=CTND1_HUMAN&rb=482&re=681&var=I667L	tolerated(0.65)	E9PKY0_HUMAN,E9PKL1_HUMAN			YES	CTNND1,missense_variant,p.Ile661Leu,ENST00000524630,;CTNND1,missense_variant,p.Ile667Leu,ENST00000399050,NM_001085458.1;CTNND1,missense_variant,p.Ile661Leu,ENST00000361332,NM_001085459.1;CTNND1,missense_variant,p.Ile667Leu,ENST00000360682,;CTNND1,missense_variant,p.Ile661Leu,ENST00000361796,NM_001206885.1,NM_001085461.1;CTNND1,missense_variant,p.Ile661Leu,ENST00000361391,NM_001331.2;CTNND1,missense_variant,p.Ile661Leu,ENST00000358694,NM_001085460.1;CTNND1,missense_variant,p.Ile607Leu,ENST00000529526,NM_001206891.1;CTNND1,missense_variant,p.Ile607Leu,ENST00000532649,NM_001206889.1;CTNND1,missense_variant,p.Ile607Leu,ENST00000534579,;CTNND1,missense_variant,p.Ile661Leu,ENST00000428599,NM_001085462.1;CTNND1,missense_variant,p.Ile613Leu,ENST00000532844,NM_001206883.1;CTNND1,missense_variant,p.Ile607Leu,ENST00000526357,NM_001206886.1;CTNND1,missense_variant,p.Ile607Leu,ENST00000529873,NM_001206887.1;CTNND1,missense_variant,p.Ile613Leu,ENST00000530748,NM_001206884.1;CTNND1,missense_variant,p.Ile607Leu,ENST00000528621,NM_001206888.1;CTNND1,missense_variant,p.Ile566Leu,ENST00000415361,NM_001085463.1;CTNND1,missense_variant,p.Ile560Leu,ENST00000530094,NM_001085464.1;CTNND1,missense_variant,p.Ile560Leu,ENST00000426142,NM_001085467.1;CTNND1,missense_variant,p.Ile560Leu,ENST00000532787,NM_001085465.1;CTNND1,missense_variant,p.Ile560Leu,ENST00000532463,NM_001206890.1;CTNND1,missense_variant,p.Ile566Leu,ENST00000528232,NM_001085466.1;CTNND1,missense_variant,p.Ile560Leu,ENST00000529986,NM_001085468.1;CTNND1,missense_variant,p.Ile560Leu,ENST00000532245,NM_001085469.1;CTNND1,missense_variant,p.Ile667Leu,ENST00000399039,;CTNND1,missense_variant,p.Ile344Leu,ENST00000527467,;CTNND1,missense_variant,p.Ile338Leu,ENST00000531014,;CTNND1,missense_variant,p.Ile338Leu,ENST00000533667,;CTNND1,missense_variant,p.Ile344Leu,ENST00000525902,;CTNND1,missense_variant,p.Ile338Leu,ENST00000526772,;CTNND1,missense_variant,p.Ile667Leu,ENST00000529919,;CTNND1,missense_variant,p.Ile667Leu,ENST00000526938,;CTNND1,upstream_gene_variant,,ENST00000531007,;CTNND1,non_coding_transcript_exon_variant,,ENST00000530720,;CTNND1,downstream_gene_variant,,ENST00000527599,;							MODERATE	1999/2907	I667L	CTND1_HUMAN			Transcript		benign(0.009)	.	ENSP00000382004		CCDS44604.1			1	
RGAG4	0	LGGM	GRCh37	X	71350424	71350424	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	62	30	.	.	ENST00000545866.1:c.967C>T	p.Arg323Ter	p.R323*	ENST00000545866	NM_001024455.3	323	Cga/Tga	0	1		UPI00001C2079	0	NA	ENST00000479991		ENSG00000242732	29430	0.000215	92	0		HGNC	p.R323X	rs756761561	RGAG4		SNV							ENST00000545866	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,X,71350424,G,A&fts=all		hmmpanther:PTHR15503,hmmpanther:PTHR15503:SF2		R/*		A	NA	1328/4339		NA						RGAG4,stop_gained,p.Arg323Ter,ENST00000545866,NM_001024455.3;RGAG4,stop_gained,p.Arg323Ter,ENST00000609883,;NHSL2,intron_variant,,ENST00000540800,NM_001013627.2;NHSL2,upstream_gene_variant,,ENST00000373677,;NHSL2,upstream_gene_variant,,ENST00000535692,;NHSL2,upstream_gene_variant,,ENST00000510661,;RGAG4,stop_gained,p.Arg323Ter,ENST00000479991,;RP11-262D11.1,upstream_gene_variant,,ENST00000513469,;							HIGH	967/1710	R323*	RGAG4_HUMAN			Transcript			.	ENSP00000418667	2.48E-05	CCDS55446.1			1	
EPHA6	0	LGGM	GRCh37	3	96945191	96945191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	107	40	.	.	ENST00000389672.5:c.1198G>A	p.Ala400Thr	p.A400T	ENST00000389672	NM_001080448.2	400	Gca/Aca	0	1	1	UPI000004BB12	0	getma.org/pdb.php?prot=EPHA6_HUMAN&from=207&to=331&var=A305T	ENST00000389672		ENSG00000080224	19296		147	2.085		HGNC	p.A400T		EPHA6		SNV							ENST00000470610	protein_coding	getma.org/?cm=var&var=hg19,3,96945191,G,A&fts=all		Gene3D:2gy5A03,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24,Superfamily_domains:SSF57184		A/T		A	medium	1236/3971		getma.org/?cm=msa&ty=f&p=EPHA6_HUMAN&rb=207&re=331&var=A305T	tolerated(0.06)	H0Y8K5_HUMAN			YES	EPHA6,missense_variant,p.Ala400Thr,ENST00000389672,NM_001080448.2;EPHA6,missense_variant,p.Ala400Thr,ENST00000470610,;							MODERATE	1198/3393	A305T				Transcript		benign(0.311)	.	ENSP00000374323		CCDS46876.1			1	
VPS13B	0	LGGM	GRCh37	8	100589761	100589761	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093030	H093030N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	45	57	.	.	ENST00000358544.2:c.5195C>A	p.Thr1732Lys	p.T1732K	ENST00000358544	NM_017890.4	1732	aCa/aAa	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		102	0.805		HGNC	p.T1732K		VPS13B		SNV			1				ENST00000358544	protein_coding	getma.org/?cm=var&var=hg19,8,100589761,C,A&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		T/K		A	low	5306/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=1721&re=1920&var=T1732K	deleterious(0)				YES	VPS13B,missense_variant,p.Thr1732Lys,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Thr1707Lys,ENST00000357162,NM_152564.4;VPS13B,missense_variant,p.Thr95Lys,ENST00000521559,;VPS13B,3_prime_UTR_variant,,ENST00000395996,;VPS13B,3_prime_UTR_variant,,ENST00000496144,;							MODERATE	5195/12069	T1732K	VP13B_HUMAN			Transcript		possibly_damaging(0.768)	.	ENSP00000351346		CCDS6280.1			1	
PI15	0	LGGM	GRCh37	8	75737635	75737635	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093030	H093030N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	67	83	.	.	ENST00000260113.2:c.151G>A	p.Ala51Thr	p.A51T	ENST00000260113	NM_015886.3	51	Gcg/Acg	0	1	1	UPI00000422F7	0	NA	ENST00000260113		ENSG00000137558	8946		150	0.895		HGNC	p.A51T		PI15		SNV							ENST00000523773	protein_coding	getma.org/?cm=var&var=hg19,8,75737635,G,A&fts=all		hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF63,Superfamily_domains:SSF55797		A/T		A	low	330/6732		getma.org/?cm=msa&ty=f&p=PI15_HUMAN&rb=1&re=70&var=A51T	tolerated(0.57)				YES	PI15,missense_variant,p.Ala51Thr,ENST00000260113,NM_015886.3;PI15,missense_variant,p.Ala51Thr,ENST00000523773,;RP11-758M4.4,intron_variant,,ENST00000518128,;RP11-758M4.4,intron_variant,,ENST00000523860,;RP11-758M4.1,downstream_gene_variant,,ENST00000523442,;							MODERATE	151/777	A51T	PI15_HUMAN			Transcript		benign(0.002)	.	ENSP00000260113		CCDS6218.1			1	
TRPA1	0	LGGM	GRCh37	8	72981344	72981344	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093030	H093030N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093030N.bam, H093030T.bam	Illumina HiSeq	84	127	.	.	ENST00000262209.4:c.358A>C	p.Arg120=	p.R120=	ENST00000262209	NM_007332.2	120	Aga/Cga	0	1	1	UPI000021081A	0		ENST00000262209		ENSG00000104321	497		211			HGNC	p.R120R		TRPA1		SNV			1				ENST00000262209	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		R		G		566/5223							YES	TRPA1,synonymous_variant,p.=,ENST00000262209,NM_007332.2;TRPA1,upstream_gene_variant,,ENST00000523582,;RP11-383H13.1,intron_variant,,ENST00000518916,;							LOW	358/3360		TRPA1_HUMAN			Transcript			.	ENSP00000262209		CCDS34908.1			1	
C16orf3	0	LGGM	GRCh37	16	90095641	90095641	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	16	2	.	.	ENST00000408886.2:c.110G>C	p.Cys37Ser	p.C37S	ENST00000408886	NM_001214.3	37	tGc/tCc	0	1	1	UPI000013FDC7	0	NA	ENST00000408886		ENSG00000221819	1197		18	0		HGNC	p.C37S		C16orf3		SNV							ENST00000408886	protein_coding	getma.org/?cm=var&var=hg19,16,90095641,C,G&fts=all				C/S		G	neutral	669/994		getma.org/?cm=msa&ty=f&p=CP003_HUMAN&rb=1&re=124&var=C37S	tolerated_low_confidence(0.11)				YES	C16orf3,missense_variant,p.Cys37Ser,ENST00000408886,NM_001214.3;GAS8,intron_variant,,ENST00000268699,NM_001481.2,NM_001286205.1;GAS8,intron_variant,,ENST00000536122,NM_001286209.1;GAS8,intron_variant,,ENST00000563936,;GAS8,intron_variant,,ENST00000561675,;GAS8,intron_variant,,ENST00000564392,;GAS8,intron_variant,,ENST00000540721,;GAS8,intron_variant,,ENST00000568705,;GAS8,intron_variant,,ENST00000565957,;GAS8,intron_variant,,ENST00000563980,;GAS8,intron_variant,,ENST00000568664,;GAS8,intron_variant,,ENST00000566266,NM_001286208.1;GAS8,intron_variant,,ENST00000565062,;GAS8,intron_variant,,ENST00000537797,;GAS8,upstream_gene_variant,,ENST00000569558,;GAS8,downstream_gene_variant,,ENST00000564853,;							MODERATE	110/354	C37S	CP003_HUMAN			Transcript		benign(0.291)	.	ENSP00000386218		CCDS32518.1			1	
TBCD	0	LGGM	GRCh37	17	80765498	80765498	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	7	2	.	.	ENST00000355528.4:c.1102G>T	p.Gly368Trp	p.G368W	ENST00000355528	NM_005993.4	368	Ggg/Tgg	0	1	1	UPI000020053F	0	NA	ENST00000355528		ENSG00000141556	11581		9	3.29		HGNC	p.G368W		TBCD		SNV							ENST00000355528	protein_coding	getma.org/?cm=var&var=hg19,17,80765498,G,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR12658,Superfamily_domains:SSF48371		G/W		T	medium	1232/4094		getma.org/?cm=msa&ty=f&p=TBCD_HUMAN&rb=201&re=400&var=G368W	deleterious(0)	I3L4D2_HUMAN,I3L439_HUMAN,I3L3H4_HUMAN,I3L1S3_HUMAN,I3L163_HUMAN,I3L131_HUMAN			YES	TBCD,missense_variant,p.Gly368Trp,ENST00000355528,NM_005993.4;TBCD,missense_variant,p.Gly368Trp,ENST00000539345,;TBCD,5_prime_UTR_variant,,ENST00000397466,;							MODERATE	1102/3579	G368W	TBCD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347719		CCDS45818.1			1	
AP3S1	0	LGGM	GRCh37	5	115177803	115177804	+	frameshift_variant,splice_region_variant	Frame_Shift_Ins	INS	-	-	A	novel	by Submitter	H093032	H093032N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	4	2	.	.	ENST00000316788.7:c.69_69+1insA	p.Ser24LysfsTer2	p.S24Kfs*2	ENST00000316788	NM_001284.2	23	-/A	0	1	1	UPI000002236E	0		ENST00000316788		ENSG00000177879	2013		6			HGNC	p.Y23fs	rs377617825	AP3S1		insertion							ENST00000316788	protein_coding			hmmpanther:PTHR11753:SF12,hmmpanther:PTHR11753,Pfam_domain:PF01217,Gene3D:3.30.450.60,PIRSF_domain:PIRSF015588,Superfamily_domains:SSF64356		-/X		A		626-627/1730	9.84E-05						YES	AP3S1,frameshift_variant,p.Ser24LysfsTer2,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,frameshift_variant,p.Ser24LysfsTer2,ENST00000506430,;AP3S1,splice_region_variant,,ENST00000515066,;AP3S1,splice_region_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,;							HIGH	69-70/582		AP3S1_HUMAN			Transcript			.	ENSP00000325369	0.000142	CCDS4123.1			1	
LIMK2	0	LGGM	GRCh37	22	31655999	31655999	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	38	3	.	.	ENST00000340552.4:c.424C>A	p.Arg142=	p.R142=	ENST00000340552	NM_001031801.1	142	Cgg/Agg	0	1		UPI00000534BD	0		ENST00000331728		ENSG00000182541	6614		41			HGNC	p.R163R		LIMK2		SNV							ENST00000331728	protein_coding			PROSITE_profiles:PS50106,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF398,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		R		A		601/3670				B4DYR0_HUMAN,B4DR56_HUMAN				LIMK2,synonymous_variant,p.=,ENST00000331728,NM_005569.3;LIMK2,synonymous_variant,p.=,ENST00000333611,NM_016733.2;LIMK2,synonymous_variant,p.=,ENST00000340552,NM_001031801.1;LIMK2,synonymous_variant,p.=,ENST00000406516,;LIMK2,intron_variant,,ENST00000444929,;LIMK2,downstream_gene_variant,,ENST00000425203,;LIMK2,non_coding_transcript_exon_variant,,ENST00000465937,;LIMK2,downstream_gene_variant,,ENST00000462625,;							LOW	487/1917		LIMK2_HUMAN			Transcript			.	ENSP00000332687		CCDS13891.1			1	
RIPK4	0	LGGM	GRCh37	21	43176838	43176838	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	31	3	.	.	ENST00000332512.3:c.321G>A	p.Leu107=	p.L107=	ENST00000332512	NM_020639.2	107	ctG/ctA	0	1		UPI0000125B50	0		ENST00000352483		ENSG00000183421	496		34			HGNC	p.L44L	rs369103642	RIPK4		SNV	T:0.0002		1	0.000193			ENST00000542057	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24198,hmmpanther:PTHR24198:SF18,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		L	T:0	T		386/4017								RIPK4,synonymous_variant,p.=,ENST00000352483,;RIPK4,synonymous_variant,p.=,ENST00000332512,NM_020639.2;RIPK4,synonymous_variant,p.=,ENST00000544709,;RIPK4,synonymous_variant,p.=,ENST00000542057,;							LOW	321/2499		RIPK4_HUMAN			Transcript			.	ENSP00000330161	1.65E-05				1	
SAAL1	0	LGGM	GRCh37	11	18113842	18113842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	37	3	.	.	ENST00000524803.1:c.363G>T	p.Met121Ile	p.M121I	ENST00000524803		121	atG/atT	0	1	1	UPI00001F9E3B	0	NA	ENST00000524803		ENSG00000166788	25158		40	1.78		HGNC	p.M121I		SAAL1		SNV							ENST00000300013	protein_coding	getma.org/?cm=var&var=hg19,11,18113842,C,A&fts=all		hmmpanther:PTHR23424:SF4,hmmpanther:PTHR23424,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		M/I		A	low	413/1582		getma.org/?cm=msa&ty=f&p=SAAL1_HUMAN&rb=13&re=311&var=M121I	tolerated(0.19)	G1UCX3_HUMAN			YES	SAAL1,missense_variant,p.Met121Ile,ENST00000524803,;SAAL1,missense_variant,p.Met121Ile,ENST00000300013,NM_138421.2;SAAL1,missense_variant,p.Met121Ile,ENST00000529318,;SAAL1,missense_variant,p.Met10Ile,ENST00000531751,;SAAL1,missense_variant,p.Met121Ile,ENST00000530180,;SAAL1,intron_variant,,ENST00000532452,;SAAL1,upstream_gene_variant,,ENST00000530436,;SAAL1,non_coding_transcript_exon_variant,,ENST00000533851,;SAAL1,downstream_gene_variant,,ENST00000530736,;SAAL1,missense_variant,p.Met121Ile,ENST00000531581,;SAAL1,upstream_gene_variant,,ENST00000528002,;							MODERATE	363/1425	M121I	SAAL1_HUMAN			Transcript		benign(0.416)	.	ENSP00000432487		CCDS31439.1			1	
DGCR6L	0	LGGM	GRCh37	22	20302345	20302345	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	19	3	.	.	ENST00000248879.3:c.516G>T	p.Glu172Asp	p.E172D	ENST00000248879	NM_033257.3	172	gaG/gaT	0	1	1	UPI0000129216	0	NA	ENST00000248879		ENSG00000128185	18551		22	2.4		HGNC	p.E172D		DGCR6L		SNV							ENST00000248879	protein_coding	getma.org/?cm=var&var=hg19,22,20302345,C,A&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF07324,hmmpanther:PTHR13054:SF4,hmmpanther:PTHR13054		E/D		A	medium	608/1154		getma.org/?cm=msa&ty=f&p=DGC6L_HUMAN&rb=1&re=195&var=E172D	tolerated(0.06)				YES	DGCR6L,missense_variant,p.Glu172Asp,ENST00000248879,NM_033257.3;DGCR6L,missense_variant,p.Glu134Asp,ENST00000405465,;XXbac-B444P24.13,downstream_gene_variant,,ENST00000608275,;DGCR6L,splice_region_variant,,ENST00000443409,;XXbac-B444P24.10,downstream_gene_variant,,ENST00000438948,;							MODERATE	516/663	E172D	DGC6L_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000248879		CCDS13778.1			1	
OR52N5	0	LGGM	GRCh37	11	5799120	5799120	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	30	3	.	.	ENST00000317093.2:c.745A>T	p.Thr249Ser	p.T249S	ENST00000317093	NM_001001922.2	249	Acc/Tcc	0	1	1	UPI0000041BF9	0	NA	ENST00000317093		ENSG00000181009	15231		33	4.345		HGNC	p.T249S		OR52N5		SNV							ENST00000317093	protein_coding	getma.org/?cm=var&var=hg19,11,5799120,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF18,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/S		A	high	778/1034		getma.org/?cm=msa&ty=f&p=O52N5_HUMAN&rb=150&re=295&var=T249S	deleterious(0)				YES	OR52N5,missense_variant,p.Thr249Ser,ENST00000317093,NM_001001922.2;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	745/975	T249S	O52N5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000322866		CCDS31397.1			1	
MS4A14	0	LGGM	GRCh37	11	60165337	60165337	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	42	3	.	.	ENST00000531783.1:c.151C>A	p.Leu51Met	p.L51M	ENST00000531783	NM_001261828.1	51	Ctg/Atg	0	1		UPI000013E636	0	NA	ENST00000300187		ENSG00000166928	30706		45	1.33		HGNC	p.L51M	COSM544004	MS4A14		SNV						1	ENST00000526375	protein_coding	getma.org/?cm=var&var=hg19,11,60165337,C,A&fts=all		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF10,Transmembrane_helices:TMhelix		L/M		A	low	428/2997		getma.org/?cm=msa&ty=f&p=M4A14_HUMAN&rb=44&re=221&var=L51M	deleterious(0)	F6X344_HUMAN				MS4A14,missense_variant,p.Leu51Met,ENST00000300187,NM_032597.4;MS4A14,missense_variant,p.Leu51Met,ENST00000531783,NM_001261828.1;MS4A14,missense_variant,p.Leu51Met,ENST00000395005,NM_001079692.2;MS4A14,missense_variant,p.Leu51Met,ENST00000526375,;MS4A14,missense_variant,p.Leu10Met,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,,ENST00000530027,;MS4A14,missense_variant,p.Leu51Met,ENST00000530662,;MS4A14,missense_variant,p.Leu51Met,ENST00000527841,;MS4A14,missense_variant,p.Leu51Met,ENST00000525397,;MS4A14,missense_variant,p.Leu51Met,ENST00000531949,;MS4A7,downstream_gene_variant,,ENST00000528587,;MS4A7,downstream_gene_variant,,ENST00000533849,;MS4A6E,downstream_gene_variant,,ENST00000532756,;					1		MODERATE	151/2040	L51M	M4A14_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000300187		CCDS31569.1			1	
ACAN	0	LGGM	GRCh37	15	89399922	89399922	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	29	4	.	.	ENST00000439576.2:c.4106T>A	p.Val1369Glu	p.V1369E	ENST00000439576	NM_013227.3	1369	gTa/gAa	0	1	1	UPI0001B23381	0	NA	ENST00000439576		ENSG00000157766	319		33	2.39		HGNC	p.V1369E		ACAN		SNV			1				ENST00000559004	protein_coding	getma.org/?cm=var&var=hg19,15,89399922,T,A&fts=all		hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		V/E		A	medium	4480/8840		getma.org/?cm=msa&ty=f&p=PGCA_HUMAN&rb=1274&re=1473&var=V1369E	tolerated(0.29)	Q6LE94_HUMAN,E7EX88_HUMAN			YES	ACAN,missense_variant,p.Val1369Glu,ENST00000439576,NM_013227.3;ACAN,missense_variant,p.Val1369Glu,ENST00000559004,;ACAN,missense_variant,p.Val1369Glu,ENST00000561243,;ACAN,missense_variant,p.Val1369Glu,ENST00000352105,NM_001135.3;ACAN,upstream_gene_variant,,ENST00000560601,;							MODERATE	4106/7593	V1369E				Transcript		benign(0.17)	.	ENSP00000387356		CCDS53970.1			1	
DNAH1	0	LGGM	GRCh37	3	52400524	52400524	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	10	4	.	.	ENST00000420323.2:c.5570G>C	p.Gly1857Ala	p.G1857A	ENST00000420323	NM_015512.4	1857	gGc/gCc	0	1	1	UPI0001AE79D6	0	getma.org/pdb.php?prot=DYH1_HUMAN&from=1857&to=2003&var=G1857A	ENST00000420323		ENSG00000114841	2940		14	3.03		HGNC	p.G1857A		DNAH1		SNV			1				ENST00000420323	protein_coding	getma.org/?cm=var&var=hg19,3,52400524,G,C&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137,Superfamily_domains:SSF52540		G/A		C	medium	5831/13104		getma.org/?cm=msa&ty=f&p=DYH1_HUMAN&rb=1857&re=2003&var=G1857A					YES	DNAH1,missense_variant,p.Gly1857Ala,ENST00000420323,NM_015512.4;DNAH1,downstream_gene_variant,,ENST00000466628,;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;							MODERATE	5570/12798	G1857A	DYH1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401514		CCDS46842.1			1	
GLP1R	0	LGGM	GRCh37	6	39033992	39033992	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	7	4	.	.	ENST00000373256.4:c.422T>A	p.Leu141His	p.L141H	ENST00000373256	NM_002062.3	141	cTc/cAc	0	1	1	UPI0000061F20	0	NA	ENST00000373256		ENSG00000112164	4324		11	0		HGNC	p.L141H		GLP1R		SNV							ENST00000373256	protein_coding	getma.org/?cm=var&var=hg19,6,39033992,T,A&fts=all		Prints_domain:PR01355,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF232,Superfamily_domains:SSF111418,Superfamily_domains:SSF81321		L/H		A	neutral	465/3105		getma.org/?cm=msa&ty=f&p=GLP1R_HUMAN&rb=141&re=398&var=L141H	tolerated(0.31)				YES	GLP1R,missense_variant,p.Leu141His,ENST00000373256,NM_002062.3;							MODERATE	422/1392	L141H	GLP1R_HUMAN			Transcript		possibly_damaging(0.879)	.	ENSP00000362353		CCDS4839.1			1	
EDNRB	0	LGGM	GRCh37	13	78492761	78492761	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	6	5	.	.	ENST00000377211.4:c.220-2A>T		p.X74_splice	ENST00000377211	NM_001201397.1			0	1		UPI00000503F8	0		ENST00000334286		ENSG00000136160	3180		11			HGNC	-		EDNRB		SNV			1				ENST00000377211	protein_coding							A		185/4277								EDNRB,splice_acceptor_variant,,ENST00000377211,NM_001201397.1;EDNRB,5_prime_UTR_variant,,ENST00000334286,NM_001122659.2,NM_000115.3;EDNRB,5_prime_UTR_variant,,ENST00000446573,NM_003991.3;RNF219-AS1,upstream_gene_variant,,ENST00000607862,;EDNRB,splice_acceptor_variant,,ENST00000475537,;							MODIFIER	-/1329		EDNRB_HUMAN			Transcript			.	ENSP00000335311		CCDS9461.1			1	
LRP1B	0	LGGM	GRCh37	2	141946128	141946128	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	22	5	.	.	ENST00000389484.3:c.875G>A	p.Trp292Ter	p.W292*	ENST00000389484	NM_018557.2	292	tGg/tAg	0	1	1	UPI00001B045B	0	NA	ENST00000389484		ENSG00000168702	6693		27	0		HGNC	p.W292X		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141946128,C,T&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		W/*		T	NA	1847/16535		NA		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			YES	LRP1B,stop_gained,p.Trp292Ter,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;							HIGH	875/13800	W292*	LRP1B_HUMAN			Transcript			.	ENSP00000374135		CCDS2182.1			1	
HUS1B	0	LGGM	GRCh37	6	656623	656623	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	1	6	.	.	ENST00000380907.2:c.322C>T	p.Arg108Cys	p.R108C	ENST00000380907	NM_148959.3	108	Cgc/Tgc	0	1	1	UPI000019C420	0	getma.org/pdb.php?prot=HUS1B_HUMAN&from=1&to=278&var=R108C	ENST00000380907		ENSG00000188996	16485		7	1.24		HGNC	p.R108C		HUS1B		SNV							ENST00000380907	protein_coding	getma.org/?cm=var&var=hg19,6,656623,G,A&fts=all		hmmpanther:PTHR12900,hmmpanther:PTHR12900:SF1,Pfam_domain:PF04005,PIRSF_domain:PIRSF011312		R/C		A	low	341/1025		getma.org/?cm=msa&ty=f&p=HUS1B_HUMAN&rb=1&re=278&var=R108C	deleterious(0.03)				YES	HUS1B,missense_variant,p.Arg108Cys,ENST00000380907,NM_148959.3;EXOC2,intron_variant,,ENST00000230449,NM_018303.5;EXOC2,intron_variant,,ENST00000448181,;EXOC2,intron_variant,,ENST00000443083,;							MODERATE	322/837	R108C	HUS1B_HUMAN			Transcript		possibly_damaging(0.465)	.	ENSP00000370293		CCDS4470.1			1	
MITF	0	LGGM	GRCh37	3	69928273	69928273	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	18	6	.	.	ENST00000352241.4:c.105-12G>T		*35*	ENST00000352241	NM_198159.2			0	1		UPI000012F16A	0		ENST00000448226		ENSG00000187098	7105		24			HGNC	p.W6C	rs141467928	MITF	6.13E-05	SNV	A:0.0015		1				ENST00000394355	protein_coding		A:0.0015				A:0.0001	T		-/2489				C9K0S7_HUMAN	A:0	A:0		MITF,missense_variant,p.Trp6Cys,ENST00000394355,NM_198177.2;MITF,intron_variant,,ENST00000352241,NM_198159.2;MITF,intron_variant,,ENST00000328528,NM_006722.2;MITF,intron_variant,,ENST00000448226,;MITF,intron_variant,,ENST00000472437,NM_001184967.1;MITF,intron_variant,,ENST00000314589,;MITF,intron_variant,,ENST00000451708,;MITF,intron_variant,,ENST00000433517,;MITF,intron_variant,,ENST00000429090,;MITF,intron_variant,,ENST00000457080,;MITF,intron_variant,,ENST00000495741,;		A:0.0004					MODIFIER	-/1581		MITF_HUMAN		A:0	Transcript			.	ENSP00000391803	8.27E-06			A:0	1	
LTF	0	LGGM	GRCh37	3	46501197	46501197	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	16	6	.	.	ENST00000231751.4:c.156T>A	p.Pro52=	p.P52=	ENST00000231751	NM_002343.3	52	ccT/ccA	0	1	1	UPI000016ABE3	0		ENST00000231751		ENSG00000012223	6720		22			HGNC	p.P8P		LTF		SNV			1				ENST00000415180	protein_coding			PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF21,hmmpanther:PTHR11485,Gene3D:3.40.190.10,Pfam_domain:PF00405,SMART_domains:SM00094,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500683,Superfamily_domains:SSF53850		P		T		452/2979				C9J0S5_HUMAN,A8K9U8_HUMAN			YES	LTF,synonymous_variant,p.=,ENST00000231751,NM_002343.3;LTF,synonymous_variant,p.=,ENST00000443496,;LTF,synonymous_variant,p.=,ENST00000426532,NM_001199149.1;LTF,synonymous_variant,p.=,ENST00000417439,;LTF,synonymous_variant,p.=,ENST00000415180,;LTF,synonymous_variant,p.=,ENST00000431944,;LTF,non_coding_transcript_exon_variant,,ENST00000498301,;LTF,intron_variant,,ENST00000478874,;LTF,upstream_gene_variant,,ENST00000462667,;							LOW	156/2133		TRFL_HUMAN			Transcript			.	ENSP00000231751		CCDS33747.1			1	
AGTRAP	0	LGGM	GRCh37	1	11808667	11808667	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	6	7	.	.	ENST00000314340.5:c.364G>T	p.Gly122Cys	p.G122C	ENST00000314340	NM_020350.4	122	Ggt/Tgt	0	1	1	UPI00001574DC	0	NA	ENST00000314340		ENSG00000177674	13539		13	1.75		HGNC	p.G122C	COSM675098	AGTRAP		SNV						1	ENST00000314340	protein_coding	getma.org/?cm=var&var=hg19,1,11808667,G,T&fts=all		hmmpanther:PTHR16521:SF2,hmmpanther:PTHR16521,Pfam_domain:PF06396,SMART_domains:SM00805		G/C		T	low	418/1107		getma.org/?cm=msa&ty=f&p=ATRAP_HUMAN&rb=1&re=159&var=G122C	deleterious(0)				YES	AGTRAP,missense_variant,p.Gly122Cys,ENST00000314340,NM_020350.4;AGTRAP,splice_region_variant,,ENST00000376627,;AGTRAP,splice_region_variant,p.=,ENST00000510878,;AGTRAP,splice_region_variant,,ENST00000400895,NM_001040197.1,NM_001040196.1;AGTRAP,intron_variant,,ENST00000376629,NM_001040194.1;AGTRAP,intron_variant,,ENST00000376637,NM_001040195.1;AGTRAP,intron_variant,,ENST00000452018,;AGTRAP,splice_region_variant,,ENST00000471765,;AGTRAP,intron_variant,,ENST00000491346,;AGTRAP,intron_variant,,ENST00000476309,;AGTRAP,downstream_gene_variant,,ENST00000494437,;AGTRAP,splice_region_variant,,ENST00000476512,;AGTRAP,splice_region_variant,,ENST00000513739,;AGTRAP,intron_variant,,ENST00000514733,;					1		MODERATE	364/480	G122C	ATRAP_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000319713		CCDS136.1			1	
DSCAML1	0	LGGM	GRCh37	11	117376206	117376206	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	5	7	.	.	ENST00000321322.6:c.2205C>A	p.Ala735=	p.A735=	ENST00000321322	NM_020693.2	735	gcC/gcA	0	1	1	UPI00000726E2	0		ENST00000321322		ENSG00000177103	14656		12			HGNC	p.A735A		DSCAML1		SNV							ENST00000321322	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		T		2207/6899							YES	DSCAML1,synonymous_variant,p.=,ENST00000321322,NM_020693.2;DSCAML1,synonymous_variant,p.=,ENST00000527706,;							LOW	2205/6342		DSCL1_HUMAN			Transcript			.	ENSP00000315465		CCDS8384.1			1	
FNDC8	0	LGGM	GRCh37	17	33457406	33457406	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	22	7	.	.	ENST00000158009.5:c.928G>C	p.Glu310Gln	p.E310Q	ENST00000158009	NM_017559.2	310	Gag/Cag	0	1	1	UPI000006D671	0	NA	ENST00000158009		ENSG00000073598	25286		29	0.805		HGNC	p.E310Q		FNDC8		SNV							ENST00000158009	protein_coding	getma.org/?cm=var&var=hg19,17,33457406,G,C&fts=all		hmmpanther:PTHR32430		E/Q		C	low	1043/1388		getma.org/?cm=msa&ty=f&p=FNDC8_HUMAN&rb=271&re=324&var=E310Q	deleterious_low_confidence(0.02)				YES	FNDC8,missense_variant,p.Glu310Gln,ENST00000158009,NM_017559.2;NLE1,3_prime_UTR_variant,,ENST00000586869,;NLE1,downstream_gene_variant,,ENST00000442241,NM_001014445.1,NM_018096.3;NLE1,downstream_gene_variant,,ENST00000360831,;NLE1,downstream_gene_variant,,ENST00000588019,;							MODERATE	928/975	E310Q	FNDC8_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000158009		CCDS11290.1			1	
OR2B2	0	LGGM	GRCh37	6	27879230	27879230	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	50	7	.	.	ENST00000303324.2:c.868T>A	p.Tyr290Asn	p.Y290N	ENST00000303324	NM_033057.2	290	Tat/Aat	0	1	1	UPI000004187A	0	NA	ENST00000303324		ENSG00000168131	13966		57	2.22		HGNC	p.Y290N		OR2B2		SNV							ENST00000303324	protein_coding	getma.org/?cm=var&var=hg19,6,27879230,A,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00245,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF115,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		Y/N		T	medium	945/1212		getma.org/?cm=msa&ty=f&p=OR2B2_HUMAN&rb=284&re=357&var=Y290N	deleterious(0)	Q6IFA1_HUMAN			YES	OR2B2,missense_variant,p.Tyr290Asn,ENST00000303324,NM_033057.2;							MODERATE	868/1074	Y290N	OR2B2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000304419		CCDS4641.1			1	
COL11A1	0	LGGM	GRCh37	1	103440441	103440441	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	24	8	.	.	ENST00000370096.3:c.2755-2A>T		p.X919_splice	ENST00000370096	NM_001854.3			0	1	1	UPI00002053EF	0		ENST00000370096		ENSG00000060718	2186		32			HGNC	-		COL11A1		SNV			1				ENST00000353414	protein_coding							A		-/7286				Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,splice_acceptor_variant,,ENST00000358392,NM_080629.2;COL11A1,splice_acceptor_variant,,ENST00000370096,NM_001854.3;COL11A1,splice_acceptor_variant,,ENST00000353414,NM_001190709.1;COL11A1,splice_acceptor_variant,,ENST00000512756,NM_080630.3;							HIGH	2755/5421		COBA1_HUMAN			Transcript			.	ENSP00000359114		CCDS778.1			1	
RP1L1	0	LGGM	GRCh37	8	10466638	10466638	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	16	8	.	.	ENST00000382483.3:c.4970G>T	p.Cys1657Phe	p.C1657F	ENST00000382483	NM_178857.5	1657	tGt/tTt	0	1	1	UPI00001AF9CC	0	NA	ENST00000382483		ENSG00000183638	15946		24	1.1		HGNC	p.C1657F		RP1L1		SNV			1				ENST00000382483	protein_coding	getma.org/?cm=var&var=hg19,8,10466638,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23005:SF3,hmmpanther:PTHR23005		C/F		A	low	5194/7973		getma.org/?cm=msa&ty=f&p=RP1L1_HUMAN&rb=963&re=1913&var=C1737F		A6NKC6_HUMAN			YES	RP1L1,missense_variant,p.Cys1657Phe,ENST00000382483,NM_178857.5;							MODERATE	4970/7203	C1737F				Transcript		unknown(0)	.	ENSP00000371923		CCDS43708.1			1	
SORBS2	0	LGGM	GRCh37	4	186533056	186533056	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	27	9	.	.	ENST00000355634.5:c.3262A>G	p.Ile1088Val	p.I1088V	ENST00000355634	NM_001270771.1	1088	Atc/Gtc	0	1		UPI0000070F00	0	getma.org/pdb.php?prot=SRBS2_HUMAN&from=944&to=991&var=I988V	ENST00000284776		ENSG00000154556	24098		36	1.495		HGNC	p.I988V		SORBS2		SNV							ENST00000284776	protein_coding	getma.org/?cm=var&var=hg19,4,186533056,T,C&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF122,Gene3D:2.30.30.40,Pfam_domain:PF00018,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452		I/V		C	low	3472/5996		getma.org/?cm=msa&ty=f&p=SRBS2_HUMAN&rb=944&re=991&var=I988V	deleterious(0)	C9JL62_HUMAN,C9JBR8_HUMAN,C9J8E3_HUMAN,C9J7Q5_HUMAN,C9J4K2_HUMAN,C9J3W4_HUMAN,C9IZ89_HUMAN				SORBS2,missense_variant,p.Ile988Val,ENST00000431808,;SORBS2,missense_variant,p.Ile988Val,ENST00000284776,NM_021069.4;SORBS2,missense_variant,p.Ile892Val,ENST00000418609,NM_001145674.1,NM_001145675.1;SORBS2,missense_variant,p.Ile1088Val,ENST00000355634,NM_001270771.1;SORBS2,missense_variant,p.Ile549Val,ENST00000448662,NM_001145672.1;SORBS2,missense_variant,p.Ile712Val,ENST00000437304,NM_001145673.1;SORBS2,missense_variant,p.Ile532Val,ENST00000449407,NM_001145670.1;SORBS2,missense_variant,p.Ile554Val,ENST00000393528,NM_003603.6;SORBS2,missense_variant,p.Ile619Val,ENST00000319471,NM_001145671.2;SORBS2,missense_variant,p.Ile579Val,ENST00000319454,;SORBS2,downstream_gene_variant,,ENST00000451974,;SORBS2,non_coding_transcript_exon_variant,,ENST00000498125,;SORBS2,downstream_gene_variant,,ENST00000480146,;							MODERATE	2962/3303	I988V	SRBS2_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000284776		CCDS3845.1			1	
OCIAD1	0	LGGM	GRCh37	4	48844656	48844656	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	23	9	.	.	ENST00000381473.3:c.143T>G	p.Val48Gly	p.V48G	ENST00000381473	NM_001079839.2	48	gTg/gGg	0	1		UPI0000073D7F	0	NA	ENST00000264312		ENSG00000109180	16074		32	1.59		HGNC	p.V48G		OCIAD1		SNV							ENST00000512236	protein_coding	getma.org/?cm=var&var=hg19,4,48844656,T,G&fts=all		Pfam_domain:PF07051,hmmpanther:PTHR13336,hmmpanther:PTHR13336:SF4		V/G		G	low	333/1414		getma.org/?cm=msa&ty=f&p=OCAD1_HUMAN&rb=3&re=112&var=V48G	deleterious(0)	D6RIT9_HUMAN,D6RI08_HUMAN,D6RG39_HUMAN,D6RF07_HUMAN,D6RF01_HUMAN,D6RDK6_HUMAN,D6RDK1_HUMAN,D6RDI5_HUMAN,D6RC55_HUMAN,D6RBC5_HUMAN,D6RA54_HUMAN,D6R918_HUMAN				OCIAD1,missense_variant,p.Val48Gly,ENST00000425583,NM_001079842.2;OCIAD1,missense_variant,p.Val48Gly,ENST00000444354,NM_001079840.2,NM_001079841.2;OCIAD1,missense_variant,p.Val48Gly,ENST00000381473,NM_001079839.2;OCIAD1,missense_variant,p.Val48Gly,ENST00000508293,NM_001168254.1;OCIAD1,missense_variant,p.Val48Gly,ENST00000264312,NM_017830.3;OCIAD1,missense_variant,p.Val48Gly,ENST00000396448,;OCIAD1,missense_variant,p.Val48Gly,ENST00000513391,;OCIAD1,missense_variant,p.Val21Gly,ENST00000509122,;OCIAD1,missense_variant,p.Val48Gly,ENST00000511102,;OCIAD1,missense_variant,p.Val48Gly,ENST00000514981,;OCIAD1,missense_variant,p.Val48Gly,ENST00000512236,;OCIAD1,missense_variant,p.Val48Gly,ENST00000507210,;OCIAD1,missense_variant,p.Val48Gly,ENST00000509164,;OCIAD1,missense_variant,p.Val21Gly,ENST00000505922,;OCIAD1,missense_variant,p.Val48Gly,ENST00000504654,;OCIAD1,missense_variant,p.Val48Gly,ENST00000509664,;OCIAD1,missense_variant,p.Val48Gly,ENST00000509963,;OCIAD1,missense_variant,p.Val48Gly,ENST00000508996,;OCIAD1,5_prime_UTR_variant,,ENST00000503016,;OCIAD1,5_prime_UTR_variant,,ENST00000510824,;OCIAD1,5_prime_UTR_variant,,ENST00000506801,;OCIAD1,5_prime_UTR_variant,,ENST00000509246,;OCIAD1,non_coding_transcript_exon_variant,,ENST00000512981,;OCIAD1,3_prime_UTR_variant,,ENST00000513641,;OCIAD1,non_coding_transcript_exon_variant,,ENST00000507546,;							MODERATE	143/738	V48G	OCAD1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000264312		CCDS3484.1			1	
ANXA3	0	LGGM	GRCh37	4	79503440	79503440	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	23	9	.	.	ENST00000264908.6:c.308T>C	p.Met103Thr	p.M103T	ENST00000264908	NM_005139.2	103	aTg/aCg	0	1	1	UPI0000110519	0	getma.org/pdb.php?prot=ANXA3_HUMAN&from=94&to=159&var=M103T	ENST00000264908		ENSG00000138772	541		32	1.795		HGNC	p.M103T		ANXA3		SNV							ENST00000514171	protein_coding	getma.org/?cm=var&var=hg19,4,79503440,T,C&fts=all		hmmpanther:PTHR10502,hmmpanther:PTHR10502:SF25,Gene3D:1.10.220.10,Pfam_domain:PF00191,Superfamily_domains:SSF47874,Prints_domain:PR00196		M/T		C	low	687/1657		getma.org/?cm=msa&ty=f&p=ANXA3_HUMAN&rb=94&re=159&var=M103T	deleterious(0.02)	D6RFG5_HUMAN,D6RCA8_HUMAN,D6RAZ8_HUMAN,D6RA82_HUMAN			YES	ANXA3,missense_variant,p.Met103Thr,ENST00000264908,NM_005139.2;ANXA3,missense_variant,p.Met64Thr,ENST00000503570,;ANXA3,missense_variant,p.Met64Thr,ENST00000512884,;ANXA3,missense_variant,p.Met103Thr,ENST00000514171,;ANXA3,missense_variant,p.Met103Thr,ENST00000508214,;ANXA3,missense_variant,p.Met103Thr,ENST00000512373,;ANXA3,intron_variant,,ENST00000512542,;ANXA3,non_coding_transcript_exon_variant,,ENST00000510502,;							MODERATE	308/972	M103T	ANXA3_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000264908		CCDS3584.1			1	
PCDH18	0	LGGM	GRCh37	4	138442439	138442439	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	25	9	.	.	ENST00000344876.4:c.3152A>T	p.Gln1051Leu	p.Q1051L	ENST00000344876	NM_019035.3	1051	cAg/cTg	0	1	1	UPI0000047A88	0	NA	ENST00000344876		ENSG00000189184	14268		34	1.935		HGNC	p.Q1051L		PCDH18		SNV							ENST00000344876	protein_coding	getma.org/?cm=var&var=hg19,4,138442439,T,A&fts=all				Q/L		A	medium	3539/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=877&re=1076&var=Q1051L	tolerated(0.12)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Gln1051Leu,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Gln1050Leu,ENST00000412923,;PCDH18,missense_variant,p.Gln830Leu,ENST00000507846,;PCDH18,missense_variant,p.Gln262Leu,ENST00000510305,;PCDH18,missense_variant,p.Gln231Leu,ENST00000511115,;							MODERATE	3152/3408	Q1051L	PCD18_HUMAN			Transcript		benign(0.169)	.	ENSP00000355082		CCDS34064.1			1	
PTCD3	0	LGGM	GRCh37	2	86352171	86352171	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	12	9	.	.	ENST00000254630.7:c.770A>G	p.His257Arg	p.H257R	ENST00000254630	NM_017952.5	257	cAt/cGt	0	1	1	UPI0000208870	0	NA	ENST00000254630		ENSG00000132300	24717		21	0.56		HGNC	p.H257R		PTCD3		SNV							ENST00000254630	protein_coding	getma.org/?cm=var&var=hg19,2,86352171,A,G&fts=all		Pfam_domain:PF13041,PROSITE_profiles:PS51375,hmmpanther:PTHR16276,hmmpanther:PTHR16276:SF0		H/R		G	neutral	836/6734		getma.org/?cm=msa&ty=f&p=PTCD3_HUMAN&rb=243&re=303&var=H257R	tolerated(0.41)				YES	PTCD3,missense_variant,p.His257Arg,ENST00000254630,NM_017952.5;PTCD3,3_prime_UTR_variant,,ENST00000409277,;PTCD3,downstream_gene_variant,,ENST00000409783,;PTCD3,downstream_gene_variant,,ENST00000465560,;PTCD3,non_coding_transcript_exon_variant,,ENST00000484203,;PTCD3,non_coding_transcript_exon_variant,,ENST00000480102,;PTCD3,upstream_gene_variant,,ENST00000487043,;PTCD3,upstream_gene_variant,,ENST00000464541,;PTCD3,upstream_gene_variant,,ENST00000469585,;PTCD3,upstream_gene_variant,,ENST00000476215,;							MODERATE	770/2070	H257R	PTCD3_HUMAN			Transcript		benign(0.012)	.	ENSP00000254630		CCDS33235.1			1	
ADAM12	0	LGGM	GRCh37	10	127724812	127724812	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	16	9	.	.	ENST00000368679.4:c.2441C>A	p.Ser814Ter	p.S814*	ENST00000368679	NM_003474.4	814	tCa/tAa	0	1	1	UPI000036672C	0	NA	ENST00000368679		ENSG00000148848	190		25	0		HGNC	p.S814X		ADAM12		SNV							ENST00000368679	protein_coding	getma.org/?cm=var&var=hg19,10,127724812,G,T&fts=all		hmmpanther:PTHR11905:SF112,hmmpanther:PTHR11905		S/*		T	NA	2751/7938		NA					YES	ADAM12,stop_gained,p.Ser814Ter,ENST00000368679,NM_003474.4;							HIGH	2441/2730	S814*	ADA12_HUMAN			Transcript			.	ENSP00000357668		CCDS7653.1			1	
TOR3A	0	LGGM	GRCh37	1	179063266	179063266	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	22	10	.	.	ENST00000367627.3:c.857A>C	p.Lys286Thr	p.K286T	ENST00000367627	NM_022371.3	286	aAg/aCg	0	1	1	UPI000006F204	0	NA	ENST00000367627		ENSG00000186283	11997		32	0.69		HGNC	p.K286T		TOR3A		SNV							ENST00000367627	protein_coding	getma.org/?cm=var&var=hg19,1,179063266,A,C&fts=all		hmmpanther:PTHR10760,hmmpanther:PTHR10760:SF3,Superfamily_domains:SSF52540		K/T		C	neutral	1609/2724		getma.org/?cm=msa&ty=f&p=TOR3A_HUMAN&rb=235&re=397&var=K286T	deleterious(0.03)				YES	TOR3A,missense_variant,p.Lys286Thr,ENST00000367627,NM_022371.3;TOR3A,missense_variant,p.Lys286Thr,ENST00000352445,;TOR3A,downstream_gene_variant,,ENST00000447595,;TOR3A,non_coding_transcript_exon_variant,,ENST00000472001,;							MODERATE	857/1194	K286T	TOR3A_HUMAN			Transcript		benign(0.004)	.	ENSP00000356599		CCDS1329.1			1	
KCNK10	0	LGGM	GRCh37	14	88693738	88693738	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	56	10	.	.	ENST00000319231.5:c.662G>C	p.Arg221Thr	p.R221T	ENST00000319231	NM_138317.2	221	aGa/aCa	0	1		UPI0000049834	0	getma.org/pdb.php?prot=KCNKA_HUMAN&from=209&to=234&var=R216T	ENST00000340700		ENSG00000100433	6273		66	1.685		HGNC	p.R216T		KCNK10		SNV							ENST00000340700	protein_coding	getma.org/?cm=var&var=hg19,14,88693738,C,G&fts=all		Prints_domain:PR01499,Superfamily_domains:SSF81324,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF32		R/T		G	low	1099/4835		getma.org/?cm=msa&ty=f&p=KCNKA_HUMAN&rb=179&re=264&var=R216T	tolerated(0.09)					KCNK10,missense_variant,p.Arg216Thr,ENST00000340700,NM_021161.4;KCNK10,missense_variant,p.Arg221Thr,ENST00000319231,NM_138317.2;KCNK10,missense_variant,p.Arg221Thr,ENST00000312350,NM_138318.2;							MODERATE	647/1617	R216T	KCNKA_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000343104		CCDS9880.1			1	
SSH1	0	LGGM	GRCh37	12	109186170	109186170	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	22	10	.	.	ENST00000326495.5:c.1785C>T	p.Gly595=	p.G595=	ENST00000326495	NM_018984.3	595	ggC/ggT	0	1	1	UPI000003E894	0		ENST00000326495		ENSG00000084112	30579		32			HGNC	p.G606G		SSH1		SNV							ENST00000326470	protein_coding			hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138		G		A		1879/8538							YES	SSH1,synonymous_variant,p.=,ENST00000326495,NM_018984.3;SSH1,synonymous_variant,p.=,ENST00000360239,;SSH1,synonymous_variant,p.=,ENST00000326470,NM_001161331.1;SSH1,synonymous_variant,p.=,ENST00000551165,NM_001161330.1;SSH1,3_prime_UTR_variant,,ENST00000546433,;							LOW	1785/3150		SSH1_HUMAN			Transcript			.	ENSP00000315713		CCDS9121.1			1	
MCMDC2	0	LGGM	GRCh37	8	67793196	67793196	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	23	10	.	.	ENST00000422365.2:c.822T>C	p.Phe274=	p.F274=	ENST00000422365	NM_173518.4	274	ttT/ttC	0	1	1	UPI00002107AF	0		ENST00000422365		ENSG00000178460	26368		33			HGNC	p.F274F		MCMDC2		SNV							ENST00000492775	protein_coding			hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF67,SMART_domains:SM00350		F		C		993/5096							YES	MCMDC2,synonymous_variant,p.=,ENST00000422365,NM_173518.4;MCMDC2,synonymous_variant,p.=,ENST00000541540,;MCMDC2,synonymous_variant,p.=,ENST00000396592,NM_001136161.1;MCMDC2,synonymous_variant,p.=,ENST00000313616,NM_001136160.1;MCMDC2,synonymous_variant,p.=,ENST00000492775,;MCMDC2,downstream_gene_variant,,ENST00000469823,;MCMDC2,3_prime_UTR_variant,,ENST00000415737,;MCMDC2,3_prime_UTR_variant,,ENST00000428734,;							LOW	822/2046		MCMD2_HUMAN			Transcript			.	ENSP00000413632		CCDS6197.2			1	
FADS1	0	LGGM	GRCh37	11	61572163	61572163	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	32	10	.	.	ENST00000350997.7:c.1047G>A	p.Lys349=	p.K349=	ENST00000350997	NM_013402.4	349	aaG/aaA	0	1	1	UPI00001AF33B	0		ENST00000350997		ENSG00000149485	3574		42			HGNC	p.K40K		FADS1		SNV							ENST00000536991	protein_coding			Pfam_domain:PF00487,PIRSF_domain:PIRSF015921,hmmpanther:PTHR19353,hmmpanther:PTHR19353:SF19		K		T		1280/4523				I3ZNT3_HUMAN,I3ZNS6_HUMAN,I3ZNS3_HUMAN,I3ZNS1_HUMAN,I3ZNN6_HUMAN,I3ZNL9_HUMAN,I3ZNL2_HUMAN,I3ZNH3_HUMAN,I3ZNE3_HUMAN,F5H8G5_HUMAN,F5H852_HUMAN,F5H5X5_HUMAN,F5H3P6_HUMAN,F5H2H3_HUMAN,F5H1Q7_HUMAN,F5H0Y2_HUMAN,F5GYH4_HUMAN,C9JJB3_HUMAN,C9J425_HUMAN			YES	FADS1,synonymous_variant,p.=,ENST00000350997,NM_013402.4;FADS1,synonymous_variant,p.=,ENST00000536991,;FADS1,synonymous_variant,p.=,ENST00000542506,;FADS1,synonymous_variant,p.=,ENST00000433932,;FADS1,synonymous_variant,p.=,ENST00000539999,;FADS2,intron_variant,,ENST00000574708,;FADS1,upstream_gene_variant,,ENST00000460649,;FADS1,non_coding_transcript_exon_variant,,ENST00000496123,;							LOW	1047/1506		FADS1_HUMAN			Transcript			.	ENSP00000322229		CCDS8011.2			1	
MECOM	0	LGGM	GRCh37	3	168818749	168818749	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	18	10	.	.	ENST00000264674.3:c.2404T>C	p.Tyr802His	p.Y802H	ENST00000264674	NM_001105077.3	802	Tac/Cac	0	1		UPI000013D551	0	getma.org/pdb.php?prot=EVI1_HUMAN&from=733&to=755&var=Y737H	ENST00000468789		ENSG00000085276	3498		28	0.055		HGNC	p.Y802H		MECOM		SNV			1				ENST00000264674	protein_coding	getma.org/?cm=var&var=hg19,3,168818749,A,G&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24393,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/H		G	neutral	2597/3691		getma.org/?cm=msa&ty=f&p=EVI1_HUMAN&rb=713&re=775&var=Y737H	deleterious(0)	Q8IU84_HUMAN,E9PGE9_HUMAN,E7EU48_HUMAN,E7ERX0_HUMAN,E7EPY2_HUMAN				MECOM,missense_variant,p.Tyr728His,ENST00000464456,NM_001164000.1;MECOM,missense_variant,p.Tyr802His,ENST00000264674,NM_001105077.3;MECOM,missense_variant,p.Tyr737His,ENST00000392736,NM_005241.3,NM_001205194.1,NM_001163999.1;MECOM,missense_variant,p.Tyr916His,ENST00000494292,NM_004991.3;MECOM,missense_variant,p.Tyr737His,ENST00000468789,NM_001105078.3;MECOM,missense_variant,p.Tyr738His,ENST00000472280,;MECOM,missense_variant,p.Tyr738His,ENST00000433243,;MECOM,missense_variant,p.Tyr728His,ENST00000460814,;							MODERATE	2209/3156	Y737H	EVI1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000419995		CCDS3205.1			1	
PABPC5	0	LGGM	GRCh37	X	90690815	90690815	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	12	10	.	.	ENST00000312600.3:c.239A>G	p.Asn80Ser	p.N80S	ENST00000312600	NM_080832.2	80	aAt/aGt	0	1	1	UPI0000087790	0	getma.org/pdb.php?prot=PABP5_HUMAN&from=20&to=90&var=N80S	ENST00000312600		ENSG00000174740	13629		22	2.74		HGNC	p.N80S		PABPC5		SNV							ENST00000312600	protein_coding	getma.org/?cm=var&var=hg19,X,90690815,A,G&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		N/S		G	medium	453/3221		getma.org/?cm=msa&ty=f&p=PABP5_HUMAN&rb=20&re=90&var=N80S	deleterious(0.01)	Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,missense_variant,p.Asn80Ser,ENST00000312600,NM_080832.2;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;							MODERATE	239/1149	N80S	PABP5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000308012		CCDS14460.1			1	
LLGL2	0	LGGM	GRCh37	17	73567066	73567066	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	26	11	.	.	ENST00000392550.3:c.2061C>A	p.Gly687=	p.G687=	ENST00000392550	NM_001031803.1	687	ggC/ggA	0	1	1	UPI00005905A8	0		ENST00000392550		ENSG00000073350	6629		37			HGNC	p.G687G		LLGL2		SNV							ENST00000167462	protein_coding			hmmpanther:PTHR10241,hmmpanther:PTHR10241:SF20		G		A		2178/3509				J3QSA6_HUMAN,J3QRZ8_HUMAN,J3QLV4_HUMAN,J3QL58_HUMAN,J3KRE1_HUMAN			YES	LLGL2,synonymous_variant,p.=,ENST00000392550,NM_001031803.1;LLGL2,synonymous_variant,p.=,ENST00000167462,NM_004524.2;LLGL2,synonymous_variant,p.=,ENST00000577200,;LLGL2,3_prime_UTR_variant,,ENST00000578638,;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,;LLGL2,upstream_gene_variant,,ENST00000579092,;LLGL2,downstream_gene_variant,,ENST00000578719,;LLGL2,upstream_gene_variant,,ENST00000582393,;LLGL2,upstream_gene_variant,,ENST00000577211,;LLGL2,upstream_gene_variant,,ENST00000578034,;LLGL2,upstream_gene_variant,,ENST00000583514,;							LOW	2061/3063		L2GL2_HUMAN			Transcript			.	ENSP00000376333		CCDS32733.1			1	
PARP3	0	LGGM	GRCh37	3	51978112	51978112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	41	11	.	.	ENST00000398755.3:c.212A>G	p.Glu71Gly	p.E71G	ENST00000398755		71	gAg/gGg	0	1		UPI0000457116	0	getma.org/pdb.php?prot=PARP3_HUMAN&from=62&to=144&var=E64G	ENST00000417220		ENSG00000041880	273		52	2.82		HGNC	p.E64G		PARP3		SNV							ENST00000431474	protein_coding	getma.org/?cm=var&var=hg19,3,51978112,A,G&fts=all		hmmpanther:PTHR15447,hmmpanther:PTHR15447:SF9,Pfam_domain:PF05406,Superfamily_domains:0052256		E/G		G	medium	679/2472		getma.org/?cm=msa&ty=f&p=PARP3_HUMAN&rb=62&re=144&var=E64G		C9J9C7_HUMAN				PARP3,missense_variant,p.Glu64Gly,ENST00000417220,;PARP3,missense_variant,p.Glu64Gly,ENST00000431474,NM_005485.4,NM_001003931.2;PARP3,missense_variant,p.Glu71Gly,ENST00000398755,;PARP3,missense_variant,p.Glu64Gly,ENST00000498510,;RRP9,upstream_gene_variant,,ENST00000232888,NM_004704.4;PARP3,upstream_gene_variant,,ENST00000486510,;PARP3,3_prime_UTR_variant,,ENST00000471971,;PARP3,non_coding_transcript_exon_variant,,ENST00000470601,;PARP3,non_coding_transcript_exon_variant,,ENST00000470749,;PARP3,upstream_gene_variant,,ENST00000475782,;							MODERATE	191/1602	E64G	PARP3_HUMAN			Transcript		benign(0.024)	.	ENSP00000395951		CCDS43097.1			1	
CCDC114	0	LGGM	GRCh37	19	48800385	48800385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	47	11	.	.	ENST00000315396.7:c.1861G>A	p.Gly621Ser	p.G621S	ENST00000315396	NM_144577.3	621	Ggc/Agc	0	1	1	UPI0000EE7B5F	0	NA	ENST00000315396		ENSG00000105479	26560		58	0.895		HGNC	p.G621S		CCDC114		SNV			1				ENST00000315396	protein_coding	getma.org/?cm=var&var=hg19,19,48800385,C,T&fts=all				G/S		T	low	2544/3215		getma.org/?cm=msa&ty=f&p=CC114_HUMAN&rb=311&re=669&var=G621S	deleterious(0.03)				YES	CCDC114,missense_variant,p.Gly621Ser,ENST00000315396,NM_144577.3;CCDC114,non_coding_transcript_exon_variant,,ENST00000474199,;CCDC114,non_coding_transcript_exon_variant,,ENST00000497273,;							MODERATE	1861/2013	G621S	CC114_HUMAN			Transcript		possibly_damaging(0.662)	.	ENSP00000318429		CCDS12714.2			1	
CADPS	0	LGGM	GRCh37	3	62459991	62459991	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	40	11	.	.	ENST00000383710.4:c.3334A>T	p.Arg1112Trp	p.R1112W	ENST00000383710	NM_003716.3	1112	Agg/Tgg	0	1	1	UPI00001C036A	0	NA	ENST00000383710		ENSG00000163618	1426		51	1.935		HGNC	p.R1073W		CADPS		SNV							ENST00000283269	protein_coding	getma.org/?cm=var&var=hg19,3,62459991,T,A&fts=all		hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166		R/W		A	medium	3684/5471		getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=941&re=1140&var=R1112W	tolerated(0.18)				YES	CADPS,missense_variant,p.Arg1112Trp,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Arg1033Trp,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Arg1073Trp,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Arg99Trp,ENST00000473635,;CADPS,missense_variant,p.Arg24Trp,ENST00000466621,;CADPS,upstream_gene_variant,,ENST00000462768,;CADPS,non_coding_transcript_exon_variant,,ENST00000478570,;CADPS,non_coding_transcript_exon_variant,,ENST00000478408,;CADPS,downstream_gene_variant,,ENST00000463002,;							MODERATE	3334/4062	R1112W	CAPS1_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000373215		CCDS46858.1			1	
INTS7	0	LGGM	GRCh37	1	212180639	212180639	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	25	12	.	.	ENST00000366994.3:c.709A>G	p.Thr237Ala	p.T237A	ENST00000366994	NM_001199811.1	237	Act/Gct	0	1	1	UPI000006FE2E	0	NA	ENST00000366994		ENSG00000143493	24484		37	0.73		HGNC	p.T188A		INTS7		SNV							ENST00000440600	protein_coding	getma.org/?cm=var&var=hg19,1,212180639,T,C&fts=all		hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2,Superfamily_domains:SSF48371		T/A		C	neutral	814/4417		getma.org/?cm=msa&ty=f&p=INT7_HUMAN&rb=8&re=823&var=T237A	tolerated(0.27)				YES	INTS7,missense_variant,p.Thr237Ala,ENST00000366994,NM_001199811.1,NM_015434.3,NM_001199812.1;INTS7,missense_variant,p.Thr237Ala,ENST00000366993,;INTS7,missense_variant,p.Thr237Ala,ENST00000366992,;INTS7,missense_variant,p.Thr188Ala,ENST00000440600,NM_001199809.1;INTS7,non_coding_transcript_exon_variant,,ENST00000469606,;INTS7,non_coding_transcript_exon_variant,,ENST00000460867,;							MODERATE	709/2889	T237A	INT7_HUMAN			Transcript		benign(0.421)	.	ENSP00000355961		CCDS1501.1			1	
RHOT2	0	LGGM	GRCh37	16	722491	722491	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	15	12	.	.	ENST00000315082.4:c.1329C>T	p.His443=	p.H443=	ENST00000315082	NM_138769.2	443	caC/caT	0	1	1	UPI000007310B	0		ENST00000315082		ENSG00000140983	21169		27			HGNC	p.H443H		RHOT2		SNV							ENST00000315082	protein_coding			PROSITE_profiles:PS51423,Pfam_domain:PF08477,Gene3D:3.40.50.300,PIRSF_domain:PIRSF037488,Superfamily_domains:SSF52540		H		T		1443/2539							YES	RHOT2,splice_region_variant,p.=,ENST00000315082,NM_138769.2;WDR90,downstream_gene_variant,,ENST00000549091,NM_145294.4;WDR90,downstream_gene_variant,,ENST00000293879,;WDR90,downstream_gene_variant,,ENST00000547944,;RHBDL1,upstream_gene_variant,,ENST00000219551,;RHBDL1,upstream_gene_variant,,ENST00000352681,NM_001278721.1,NM_001278720.1;WDR90,downstream_gene_variant,,ENST00000315764,;RHBDL1,upstream_gene_variant,,ENST00000561556,;RHOT2,downstream_gene_variant,,ENST00000563134,;RHOT2,downstream_gene_variant,,ENST00000561929,;WDR90,downstream_gene_variant,,ENST00000551100,;RHOT2,upstream_gene_variant,,ENST00000569197,;WDR90,downstream_gene_variant,,ENST00000546896,;RHOT2,downstream_gene_variant,,ENST00000569943,;RHOT2,splice_region_variant,,ENST00000569675,;RHOT2,splice_region_variant,,ENST00000561711,;RHOT2,non_coding_transcript_exon_variant,,ENST00000602564,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568636,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569358,;RHOT2,non_coding_transcript_exon_variant,,ENST00000565004,;WDR90,downstream_gene_variant,,ENST00000547407,;WDR90,downstream_gene_variant,,ENST00000552728,;WDR90,downstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000553080,;RHBDL1,upstream_gene_variant,,ENST00000450775,;RHOT2,downstream_gene_variant,,ENST00000568950,;RHOT2,downstream_gene_variant,,ENST00000567017,;RHOT2,downstream_gene_variant,,ENST00000562333,;RHOT2,downstream_gene_variant,,ENST00000561983,;RHOT2,downstream_gene_variant,,ENST00000563637,;RHOT2,downstream_gene_variant,,ENST00000563776,;RHOT2,downstream_gene_variant,,ENST00000566965,;RHOT2,upstream_gene_variant,,ENST00000564659,;RHOT2,downstream_gene_variant,,ENST00000570280,;RHOT2,downstream_gene_variant,,ENST00000566214,;RHOT2,downstream_gene_variant,,ENST00000570092,;RHOT2,downstream_gene_variant,,ENST00000562708,;RHOT2,downstream_gene_variant,,ENST00000562598,;RHOT2,downstream_gene_variant,,ENST00000569706,;RHOT2,downstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000562957,;							LOW	1329/1857		MIRO2_HUMAN			Transcript			.	ENSP00000321971		CCDS10417.1			1	
CPS1	0	LGGM	GRCh37	2	211540487	211540487	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	27	12	.	.	ENST00000430249.2:c.4215C>T	p.Asn1405=	p.N1405=	ENST00000430249	NM_001122633.2	1405	aaC/aaT	0	1		UPI000000D7EC	0		ENST00000233072		ENSG00000021826	2323		39			HGNC	p.N1399N	rs548201746,COSM301984,COSM1153728	CPS1	6.06E-05	SNV			1	9.63E-05		0,1,1	ENST00000233072	protein_coding		T:0	Gene3D:3.40.50.1380,Pfam_domain:PF02142,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,SMART_domains:SM00851,Superfamily_domains:SSF52335,TIGRFAM_domain:TIGR01369		N		T		4393/5821	1.50E-05			Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN	T:0	T:0		CPS1,synonymous_variant,p.=,ENST00000233072,NM_001875.4;CPS1,synonymous_variant,p.=,ENST00000430249,NM_001122633.2;CPS1,synonymous_variant,p.=,ENST00000451903,NM_001122634.2;CPS1,non_coding_transcript_exon_variant,,ENST00000479988,;		T:0.0002			0,1,1		LOW	4197/4503		CPSM_HUMAN		T:0	Transcript			.	ENSP00000233072	2.47E-05	CCDS2393.1		T:0.001	1	
TIMP2	0	LGGM	GRCh37	17	76867062	76867062	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	13	12	.	.	ENST00000262768.7:c.258A>T	p.Ile86=	p.I86=	ENST00000262768	NM_003255.4	86	atA/atT	0	1	1	UPI0000136F99	0		ENST00000262768		ENSG00000035862	11821		25			HGNC	p.I9I		TIMP2		SNV							ENST00000592761	protein_coding			PROSITE_profiles:PS50189,hmmpanther:PTHR11844,hmmpanther:PTHR11844:SF7,Gene3D:2.40.50.120,Pfam_domain:PF00965,SMART_domains:SM00206,Superfamily_domains:SSF50242		I		A		557/3652				K7EL90_HUMAN,B4DFW2_HUMAN			YES	TIMP2,synonymous_variant,p.=,ENST00000262768,NM_003255.4;TIMP2,synonymous_variant,p.=,ENST00000536189,;TIMP2,synonymous_variant,p.=,ENST00000586057,;TIMP2,synonymous_variant,p.=,ENST00000585421,;DDC8,synonymous_variant,p.=,ENST00000586713,;TIMP2,synonymous_variant,p.=,ENST00000592761,;							LOW	258/663		TIMP2_HUMAN			Transcript			.	ENSP00000262768		CCDS11758.1			1	
ARFGAP2	0	LGGM	GRCh37	11	47198187	47198187	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	15	13	.	.	ENST00000524782.1:c.73-2A>T		p.X25_splice	ENST00000524782	NM_032389.4			0	1	1	UPI000006F4C6	0		ENST00000524782		ENSG00000149182	13504		28			HGNC	-		ARFGAP2		SNV							ENST00000426335	protein_coding							A		-/2976				B7Z9M7_HUMAN			YES	ARFGAP2,splice_acceptor_variant,,ENST00000524782,NM_032389.4,NM_001242832.1;ARFGAP2,splice_acceptor_variant,,ENST00000426335,;ARFGAP2,splice_acceptor_variant,,ENST00000419701,;ARFGAP2,splice_acceptor_variant,,ENST00000319543,;ARFGAP2,splice_acceptor_variant,,ENST00000525398,;ARFGAP2,splice_acceptor_variant,,ENST00000527927,;ARFGAP2,splice_acceptor_variant,,ENST00000525314,;ARFGAP2,splice_acceptor_variant,,ENST00000528444,;ARFGAP2,splice_acceptor_variant,,ENST00000530596,;ARFGAP2,splice_acceptor_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,;PACSIN3,downstream_gene_variant,,ENST00000525725,;PACSIN3,downstream_gene_variant,,ENST00000531226,;PACSIN3,downstream_gene_variant,,ENST00000533686,;ARFGAP2,splice_acceptor_variant,,ENST00000395449,;ARFGAP2,splice_acceptor_variant,,ENST00000531750,;ARFGAP2,splice_acceptor_variant,,ENST00000533939,;ARFGAP2,splice_acceptor_variant,,ENST00000529599,;ARFGAP2,splice_acceptor_variant,,ENST00000526185,;ARFGAP2,splice_acceptor_variant,,ENST00000533243,;ARFGAP2,splice_acceptor_variant,,ENST00000524727,;ARFGAP2,splice_acceptor_variant,,ENST00000527097,;ARFGAP2,splice_acceptor_variant,,ENST00000529455,;ARFGAP2,splice_acceptor_variant,,ENST00000532438,;ARFGAP2,splice_acceptor_variant,,ENST00000528041,;ARFGAP2,splice_acceptor_variant,,ENST00000524586,;ARFGAP2,splice_acceptor_variant,,ENST00000528072,;ARFGAP2,splice_acceptor_variant,,ENST00000530794,;ARFGAP2,3_prime_UTR_variant,,ENST00000529439,;ARFGAP2,3_prime_UTR_variant,,ENST00000528708,;ARFGAP2,intron_variant,,ENST00000532478,;PACSIN3,downstream_gene_variant,,ENST00000532457,;ARFGAP2,upstream_gene_variant,,ENST00000526948,;							HIGH	73/1566		ARFG2_HUMAN			Transcript			.	ENSP00000434442		CCDS7926.1			1	
GPR98	0	LGGM	GRCh37	5	89924592	89924592	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	110	13	.	.	ENST00000405460.2:c.1452A>G	p.Leu484=	p.L484=	ENST00000405460	NM_032119.3	484	ctA/ctG	0	1	1	UPI00002127A7	0		ENST00000405460		ENSG00000164199	17416		123			HGNC	p.L484L		GPR98		SNV			1				ENST00000405460	protein_coding			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		L		G		1548/19338							YES	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;GPR98,synonymous_variant,p.=,ENST00000504142,;							LOW	1452/18921		GPR98_HUMAN			Transcript			.	ENSP00000384582		CCDS47246.1			1	
SEC16A	0	LGGM	GRCh37	9	139357401	139357401	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	24	13	.	.	ENST00000313050.7:c.4831G>T	p.Ala1611Ser	p.A1611S	ENST00000313050	NM_014866.1	1611	Gcc/Tcc	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006		37	-0.345		HGNC	p.A1611S		SEC16A		SNV							ENST00000313050	protein_coding	getma.org/?cm=var&var=hg19,9,139357401,C,A&fts=all		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7		A/S		A	neutral	4905/8806		getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=1373&re=1441&var=A1433S	tolerated(0.54)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Ala1611Ser,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Ala1433Ser,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Ala1433Ser,ENST00000290037,;SEC16A,missense_variant,p.Ala1433Ser,ENST00000431893,;SEC16A,missense_variant,p.Ala333Ser,ENST00000453963,;SEC16A,missense_variant,p.Ala5Ser,ENST00000277537,;SEC16A,non_coding_transcript_exon_variant,,ENST00000472305,;							MODERATE	4831/7074	A1433S				Transcript		benign(0.023)	.	ENSP00000325827		CCDS55351.1			1	
FSHR	0	LGGM	GRCh37	2	49210281	49210281	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	26	14	.	.	ENST00000406846.2:c.549A>C	p.Gln183His	p.Q183H	ENST00000406846	NM_000145.3	183	caA/caC	0	1	1	UPI000013E97A	0	getma.org/pdb.php?prot=FSHR_HUMAN&from=151&to=192&var=Q183H	ENST00000406846		ENSG00000170820	3969		40	2.015		HGNC	p.Q183H		FSHR		SNV			1				ENST00000454032	protein_coding	getma.org/?cm=var&var=hg19,2,49210281,T,G&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5,Superfamily_domains:SSF52058		Q/H		G	medium	669/2784		getma.org/?cm=msa&ty=f&p=FSHR_HUMAN&rb=151&re=192&var=Q183H	tolerated(0.13)	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN			YES	FSHR,missense_variant,p.Gln183His,ENST00000406846,NM_000145.3;FSHR,missense_variant,p.Gln183His,ENST00000346173,;FSHR,missense_variant,p.Gln157His,ENST00000304421,NM_181446.2;FSHR,missense_variant,p.Gln183His,ENST00000454032,;FSHR,5_prime_UTR_variant,,ENST00000541117,;FSHR,non_coding_transcript_exon_variant,,ENST00000469138,;FSHR,3_prime_UTR_variant,,ENST00000419927,;							MODERATE	549/2088	Q183H	FSHR_HUMAN			Transcript		benign(0.012)	.	ENSP00000384708		CCDS1843.1			1	
PSD4	0	LGGM	GRCh37	2	113940449	113940449	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	26	14	.	.	ENST00000245796.6:c.416A>T	p.His139Leu	p.H139L	ENST00000245796	NM_012455.2	139	cAt/cTt	0	1	1	UPI00004A0748	0	NA	ENST00000245796		ENSG00000125637	19096		40	0.345		HGNC	p.H139L		PSD4		SNV							ENST00000245796	protein_coding	getma.org/?cm=var&var=hg19,2,113940449,A,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF65		H/L		T	neutral	611/5188		getma.org/?cm=msa&ty=f&p=PSD4_HUMAN&rb=1&re=139&var=H139L	tolerated_low_confidence(0.07)	B3KN27_HUMAN			YES	PSD4,missense_variant,p.His139Leu,ENST00000441564,;PSD4,missense_variant,p.His139Leu,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,;							MODERATE	416/3171	H139L	PSD4_HUMAN			Transcript		benign(0.013)	.	ENSP00000245796		CCDS33276.1			1	
CCR1	0	LGGM	GRCh37	3	46245239	46245239	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	35	14	.	.	ENST00000296140.3:c.566A>T	p.His189Leu	p.H189L	ENST00000296140	NM_001295.2	189	cAc/cTc	0	1	1	UPI0000043584	0	getma.org/pdb.php?prot=CCR1_HUMAN&from=51&to=301&var=H189L	ENST00000296140		ENSG00000163823	1602		49	0.535		HGNC	p.H189L		CCR1		SNV							ENST00000296140	protein_coding	getma.org/?cm=var&var=hg19,3,46245239,T,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF61,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01106		H/L		A	neutral	692/2731		getma.org/?cm=msa&ty=f&p=CCR1_HUMAN&rb=51&re=301&var=H189L	tolerated(0.68)	Q5U003_HUMAN			YES	CCR1,missense_variant,p.His189Leu,ENST00000296140,NM_001295.2;CCR3,intron_variant,,ENST00000357422,;							MODERATE	566/1068	H189L	CCR1_HUMAN			Transcript		benign(0.006)	.	ENSP00000296140		CCDS2737.1			1	
SLC15A5	0	LGGM	GRCh37	12	16342667	16342667	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	44	14	.	.	ENST00000344941.3:c.1675C>G	p.Leu559Val	p.L559V	ENST00000344941	NM_001170798.1	559	Ctg/Gtg	0	1	1	UPI0000DD8132	0	NA	ENST00000344941		ENSG00000188991	33455		58	1.78		HGNC	p.L559V	rs772299673	SLC15A5		SNV							ENST00000344941	protein_coding	getma.org/?cm=var&var=hg19,12,16342667,G,C&fts=all		hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF91		L/V		C	low	1675/2923	0.00014	getma.org/?cm=msa&ty=f&p=S15A5_HUMAN&rb=479&re=579&var=L559V	deleterious(0.04)				YES	SLC15A5,missense_variant,p.Leu559Val,ENST00000344941,NM_001170798.1;							MODERATE	1675/1740	L559V	S15A5_HUMAN			Transcript		benign(0.115)	.	ENSP00000340402	4.44E-05				1	
RLTPR	0	LGGM	GRCh37	16	67679947	67679947	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	32	14	.	.	ENST00000334583.6:c.213G>A	p.Glu71=	p.E71=	ENST00000334583	NM_001013838.1	71	gaG/gaA	0	1	1	UPI00005194F2	0		ENST00000334583		ENSG00000159753	27089		46			HGNC	p.E71E		RLTPR		SNV							ENST00000545661	protein_coding			hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41		E		A		541/4687							YES	RLTPR,synonymous_variant,p.=,ENST00000334583,NM_001013838.1;RLTPR,synonymous_variant,p.=,ENST00000545661,;RLTPR,missense_variant,p.Gly41Ser,ENST00000602563,;RLTPR,non_coding_transcript_exon_variant,,ENST00000602467,;RLTPR,upstream_gene_variant,,ENST00000602321,;RLTPR,upstream_gene_variant,,ENST00000602562,;RLTPR,upstream_gene_variant,,ENST00000602633,;RLTPR,upstream_gene_variant,,ENST00000602742,;							LOW	213/4308		LR16C_HUMAN			Transcript			.	ENSP00000334958		CCDS45513.1			1	
SLC38A11	0	LGGM	GRCh37	2	165755232	165755232	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	29	15	.	.	ENST00000409149.3:c.936C>A	p.Leu312=	p.L312=	ENST00000409149	NM_001199148.1	312	ctC/ctA	0	1	1	UPI0000E44805	0		ENST00000409149		ENSG00000169507	26836		44			HGNC	p.L312L		SLC38A11		SNV							ENST00000409662	protein_coding			Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF54,Transmembrane_helices:TMhelix		L		T		1228/1621							YES	SLC38A11,synonymous_variant,p.=,ENST00000303735,NM_173512.2;SLC38A11,synonymous_variant,p.=,ENST00000409058,;SLC38A11,synonymous_variant,p.=,ENST00000409149,NM_001199148.1;SLC38A11,synonymous_variant,p.=,ENST00000409662,;SLC38A11,synonymous_variant,p.=,ENST00000424914,;RNA5SP111,upstream_gene_variant,,ENST00000411386,;SLC38A11,non_coding_transcript_exon_variant,,ENST00000483641,;SLC38A11,non_coding_transcript_exon_variant,,ENST00000470576,;							LOW	936/1221		S38AB_HUMAN			Transcript			.	ENSP00000386272		CCDS56142.1			1	
ME1	0	LGGM	GRCh37	6	84108101	84108101	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	23	15	.	.	ENST00000369705.3:c.347T>A	p.Val116Glu	p.V116E	ENST00000369705	NM_002395.4	116	gTg/gAg	0	1	1	UPI000000127E	0	getma.org/pdb.php?prot=MAOX_HUMAN&from=79&to=260&var=V116E	ENST00000369705		ENSG00000065833	6983		38	-0.345		HGNC	p.V116E		ME1		SNV							ENST00000369705	protein_coding	getma.org/?cm=var&var=hg19,6,84108101,A,T&fts=all		hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Pfam_domain:PF00390,Gene3D:3.40.50.10380,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF53223		V/E		T	neutral	464/3371		getma.org/?cm=msa&ty=f&p=MAOX_HUMAN&rb=79&re=260&var=V116E	deleterious(0)	F5H4W0_HUMAN,B4DZ70_HUMAN			YES	ME1,missense_variant,p.Val116Glu,ENST00000369705,NM_002395.4;ME1,missense_variant,p.Val41Glu,ENST00000543031,;ME1,intron_variant,,ENST00000541327,;RP11-378G13.2,downstream_gene_variant,,ENST00000403475,;							MODERATE	347/1719	V116E	MAOX_HUMAN			Transcript		benign(0.116)	.	ENSP00000358719		CCDS34492.1			1	
AKNA	0	LGGM	GRCh37	9	117113142	117113142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	30	16	.	.	ENST00000307564.4:c.3218G>T	p.Arg1073Leu	p.R1073L	ENST00000307564	NM_030767.4	1073	cGa/cTa	0	1	1	UPI000021168C	0	NA	ENST00000307564		ENSG00000106948	24108		46	1.7		HGNC	p.R533L		AKNA		SNV							ENST00000223791	protein_coding	getma.org/?cm=var&var=hg19,9,117113142,C,A&fts=all		hmmpanther:PTHR21510:SF12,hmmpanther:PTHR21510		R/L		A	low	3380/7380		getma.org/?cm=msa&ty=f&p=AKNA_HUMAN&rb=898&re=1097&var=R1073L	deleterious(0)				YES	AKNA,missense_variant,p.Arg1073Leu,ENST00000307564,NM_030767.4;AKNA,missense_variant,p.Arg1073Leu,ENST00000374088,;AKNA,missense_variant,p.Arg992Leu,ENST00000374075,;AKNA,missense_variant,p.Arg533Leu,ENST00000223791,;AKNA,upstream_gene_variant,,ENST00000374079,;AKNA,upstream_gene_variant,,ENST00000492875,;AKNA,upstream_gene_variant,,ENST00000491133,;							MODERATE	3218/4320	R1073L	AKNA_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000303769		CCDS6805.1			1	
ZNF682	0	LGGM	GRCh37	19	20117121	20117121	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	37	16	.	.	ENST00000397165.2:c.1190A>T	p.Tyr397Phe	p.Y397F	ENST00000397165	NM_033196.2	397	tAc/tTc	0	1	1	UPI000007275A	0	getma.org/pdb.php?prot=ZN682_HUMAN&from=383&to=408&var=Y397F	ENST00000397165		ENSG00000197124	28857		53	-0.28		HGNC	p.Y365F		ZNF682		SNV							ENST00000358523	protein_coding	getma.org/?cm=var&var=hg19,19,20117121,T,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF116,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/F		A	neutral	1351/3245		getma.org/?cm=msa&ty=f&p=ZN682_HUMAN&rb=363&re=428&var=Y397F	deleterious(0.04)	M0R067_HUMAN			YES	ZNF682,missense_variant,p.Tyr397Phe,ENST00000397165,NM_033196.2;ZNF682,missense_variant,p.Tyr365Phe,ENST00000397162,NM_001077349.1;ZNF682,missense_variant,p.Tyr365Phe,ENST00000358523,;ZNF682,missense_variant,p.Tyr321Phe,ENST00000595736,;ZNF682,missense_variant,p.Tyr403Phe,ENST00000597972,;ZNF682,intron_variant,,ENST00000596019,;ZNF682,intron_variant,,ENST00000602079,;ZNF682,intron_variant,,ENST00000594127,;ZNF682,downstream_gene_variant,,ENST00000601100,;ZNF682,downstream_gene_variant,,ENST00000593468,;ZNF682,non_coding_transcript_exon_variant,,ENST00000601365,;ZNF682,downstream_gene_variant,,ENST00000595534,;							MODERATE	1190/1497	Y397F	ZN682_HUMAN			Transcript		benign(0.017)	.	ENSP00000380351		CCDS42533.1			1	
RNF14	0	LGGM	GRCh37	5	141359823	141359823	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	58	17	.	.	ENST00000394520.2:c.970T>A	p.Cys324Ser	p.C324S	ENST00000394520	NM_004290.4	324	Tgc/Agc	0	1		UPI0000134319	0	NA	ENST00000347642		ENSG00000013561	10058		75	-0.94		HGNC	p.C148S		RNF14		SNV							ENST00000394515	protein_coding	getma.org/?cm=var&var=hg19,5,141359823,T,A&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF7,Pfam_domain:PF01485,SMART_domains:SM00647,Superfamily_domains:SSF57850		C/S		A	neutral	1087/2937		getma.org/?cm=msa&ty=f&p=RNF14_HUMAN&rb=289&re=350&var=C324S	tolerated(1)	D6RDU6_HUMAN,D6RBU3_HUMAN,D6RAS4_HUMAN,D6RA38_HUMAN,D6R996_HUMAN,D6R988_HUMAN				RNF14,missense_variant,p.Cys324Ser,ENST00000394520,NM_004290.4,NM_001201365.1;RNF14,missense_variant,p.Cys324Ser,ENST00000394519,NM_183401.2;RNF14,missense_variant,p.Cys324Ser,ENST00000347642,NM_183400.2;RNF14,missense_variant,p.Cys198Ser,ENST00000394514,NM_183398.2;RNF14,missense_variant,p.Cys324Ser,ENST00000356143,NM_183399.2;RNF14,missense_variant,p.Cys148Ser,ENST00000394515,;RNF14,intron_variant,,ENST00000540015,;RNF14,intron_variant,,ENST00000512565,;RNF14,downstream_gene_variant,,ENST00000511961,;RNF14,downstream_gene_variant,,ENST00000507163,;RNF14,downstream_gene_variant,,ENST00000506822,;RNF14,downstream_gene_variant,,ENST00000506938,;AC005740.5,intron_variant,,ENST00000520882,;RNF14,non_coding_transcript_exon_variant,,ENST00000514620,;RNF14,downstream_gene_variant,,ENST00000502341,;RNF14,3_prime_UTR_variant,,ENST00000515613,;							MODERATE	970/1425	C324S	RNF14_HUMAN			Transcript		benign(0)	.	ENSP00000324956		CCDS4270.1			1	
GSG1	0	LGGM	GRCh37	12	13243647	13243648	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H093032	H093032N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	38	21	.	.	ENST00000432710.2:c.153_154insC	p.Phe52LeufsTer22	p.F52Lfs*22	ENST00000432710	NM_001206842.1	51	-/C	0	1	1	UPI00001413B2	0		ENST00000432710		ENSG00000111305	19716		59			HGNC	p.F52fs	rs369157349	GSG1		insertion	AG:0.0077						ENST00000324458	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF33,Pfam_domain:PF07803		-/X	AG:0.015	G		286-287/1231							YES	GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000337630,NM_153823.3;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000324458,NM_001080555.2;GSG1,frameshift_variant,p.Phe36LeufsTer22,ENST00000396310,NM_001206843.1;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000396302,NM_031289.3;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000351606,NM_001080554.2;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000432710,NM_001206842.1;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000457134,NM_001206845.1;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000537302,;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000545401,;GSG1,frameshift_variant,p.Phe52LeufsTer22,ENST00000542415,;GSG1,frameshift_variant,p.Phe39LeufsTer22,ENST00000545699,;KIAA1467,intron_variant,,ENST00000537625,;							HIGH	153-154/1020		GSG1_HUMAN			Transcript			.	ENSP00000405032		CCDS55808.1			1	
RASGRF2	0	LGGM	GRCh37	5	80388618	80388618	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	58	19	.	.	ENST00000265080.4:c.1391-2A>T		p.X464_splice	ENST00000265080	NM_006909.2			0	1	1	UPI0000047ABF	0		ENST00000265080		ENSG00000113319	9876		77			HGNC	-		RASGRF2		SNV							ENST00000265080	protein_coding							T		-/8167				Q68DX5_HUMAN			YES	RASGRF2,splice_acceptor_variant,,ENST00000265080,NM_006909.2;RASGRF2,downstream_gene_variant,,ENST00000502677,;RASGRF2,upstream_gene_variant,,ENST00000512186,;RASGRF2,splice_acceptor_variant,,ENST00000503795,;							HIGH	1391/3714		RGRF2_HUMAN			Transcript			.	ENSP00000265080		CCDS4052.1			1	
PRAME	0	LGGM	GRCh37	22	22892723	22892723	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	31	19	.	.	ENST00000543184.1:c.378del	p.Asn127ThrfsTer29	p.N127Tfs*29	ENST00000543184	NM_206953.1	126	aaG/aa	0	1		UPI0000000DDA	0		ENST00000398741		ENSG00000185686	9336		50			HGNC	p.K126fs		PRAME		deletion							ENST00000543184	protein_coding			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF4,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047		K/X		-		685/2202				F5H4B1_HUMAN,E7EW99_HUMAN,E7EMH2_HUMAN,B7Z986_HUMAN,B5MD04_HUMAN,B5MCY4_HUMAN				PRAME,frameshift_variant,p.Asn127ThrfsTer29,ENST00000543184,NM_206953.1;PRAME,frameshift_variant,p.Asn111ThrfsTer29,ENST00000539862,;PRAME,frameshift_variant,p.Asn127ThrfsTer29,ENST00000398741,NM_206955.1;PRAME,frameshift_variant,p.Asn127ThrfsTer29,ENST00000398743,;PRAME,frameshift_variant,p.Asn127ThrfsTer29,ENST00000405655,NM_206956.1;PRAME,frameshift_variant,p.Asn127ThrfsTer29,ENST00000402697,NM_206954.1,NM_006115.3;PRAME,frameshift_variant,p.Asn111ThrfsTer29,ENST00000424204,;PRAME,frameshift_variant,p.Asn127ThrfsTer29,ENST00000439106,;PRAME,frameshift_variant,p.Asn127ThrfsTer?,ENST00000420709,;PRAME,frameshift_variant,p.Asn151ThrfsTer29,ENST00000438888,;PRAME,downstream_gene_variant,,ENST00000406503,;PRAME,downstream_gene_variant,,ENST00000403441,;PRAME,non_coding_transcript_exon_variant,,ENST00000485532,;PRAME,non_coding_transcript_exon_variant,,ENST00000476336,;PRAME,non_coding_transcript_exon_variant,,ENST00000492657,;PRAME,downstream_gene_variant,,ENST00000442481,;							HIGH	378/1530		PRAME_HUMAN			Transcript			.	ENSP00000381726		CCDS13801.1			1	
ATP2C1	0	LGGM	GRCh37	3	130649308	130649308	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	22	20	.	.	ENST00000393221.4:c.157C>T	p.Pro53Ser	p.P53S	ENST00000393221		53	Cct/Tct	0	1		UPI000015F977	0	NA	ENST00000428331		ENSG00000017260	13211		42	0.345		HGNC	p.P53S		ATP2C1		SNV			1				ENST00000533801	protein_coding	getma.org/?cm=var&var=hg19,3,130649308,C,T&fts=all		hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF214		P/S		T	neutral	290/4795		getma.org/?cm=msa&ty=f&p=AT2C1_HUMAN&rb=1&re=55&var=P19S	tolerated(0.57)	D6RHV9_HUMAN,D6RGE9_HUMAN,D6REJ1_HUMAN,D6R9U9_HUMAN				ATP2C1,missense_variant,p.Pro19Ser,ENST00000510168,;ATP2C1,missense_variant,p.Pro19Ser,ENST00000508532,NM_001199179.1;ATP2C1,missense_variant,p.Pro3Ser,ENST00000505330,NM_001199181.1;ATP2C1,missense_variant,p.Pro19Ser,ENST00000428331,NM_014382.3;ATP2C1,missense_variant,p.Pro3Ser,ENST00000504948,NM_001199184.1;ATP2C1,missense_variant,p.Pro3Ser,ENST00000507488,NM_001199180.1;ATP2C1,missense_variant,p.Pro3Ser,ENST00000504381,NM_001199182.1;ATP2C1,missense_variant,p.Pro19Ser,ENST00000328560,NM_001199185.1,NM_001001485.2;ATP2C1,missense_variant,p.Pro53Ser,ENST00000393221,;ATP2C1,missense_variant,p.Pro3Ser,ENST00000513801,NM_001199183.1;ATP2C1,missense_variant,p.Pro19Ser,ENST00000359644,NM_001001486.1;ATP2C1,missense_variant,p.Pro19Ser,ENST00000422190,NM_001001487.1;ATP2C1,missense_variant,p.Pro53Ser,ENST00000533801,;ATP2C1,missense_variant,p.Pro19Ser,ENST00000509662,;ATP2C1,missense_variant,p.Pro19Ser,ENST00000505072,;ATP2C1,missense_variant,p.Pro3Ser,ENST00000508297,;ATP2C1,upstream_gene_variant,,ENST00000504612,;RP11-39E3.3,upstream_gene_variant,,ENST00000504737,;RP11-39E3.5,upstream_gene_variant,,ENST00000505214,;							MODERATE	55/2760	P19S	AT2C1_HUMAN			Transcript		benign(0.004)	.	ENSP00000395809		CCDS46914.1			1	
PCDH10	0	LGGM	GRCh37	4	134072720	134072720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	46	20	.	.	ENST00000264360.5:c.1425C>A	p.Asn475Lys	p.N475K	ENST00000264360	NM_032961.1	475	aaC/aaA	0	1	1	UPI0000161C61	0	getma.org/pdb.php?prot=PCD10_HUMAN&from=468&to=565&var=N475K	ENST00000264360		ENSG00000138650	13404		66	3.42		HGNC	p.N475K		PCDH10		SNV							ENST00000264360	protein_coding	getma.org/?cm=var&var=hg19,4,134072720,C,A&fts=all		Superfamily_domains:SSF49313,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF0,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		N/K		A	medium	2251/8399		getma.org/?cm=msa&ty=f&p=PCD10_HUMAN&rb=468&re=565&var=N475K	deleterious(0)	Q9NSR3_HUMAN			YES	PCDH10,missense_variant,p.Asn475Lys,ENST00000264360,NM_032961.1;RP11-9G1.3,upstream_gene_variant,,ENST00000505289,;RP11-9G1.3,upstream_gene_variant,,ENST00000509715,;PCDH10,upstream_gene_variant,,ENST00000511112,;							MODERATE	1425/3123	N475K	PCD10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264360		CCDS34063.1			1	
PLAG1	0	LGGM	GRCh37	8	57079010	57079010	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	28	20	.	.	ENST00000316981.3:c.1295A>G	p.Tyr432Cys	p.Y432C	ENST00000316981	NM_002655.2	432	tAt/tGt	0	1	1	UPI000013FF2F	0	NA	ENST00000316981		ENSG00000181690	9045		48	0.805		HGNC	p.Y432C		PLAG1		SNV			1				ENST00000429357	protein_coding	getma.org/?cm=var&var=hg19,8,57079010,T,C&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF124		Y/C		C	low	1775/7322		getma.org/?cm=msa&ty=f&p=PLAG1_HUMAN&rb=237&re=436&var=Y432C	tolerated(0.18)	A7IT80_HUMAN,A7IT79_HUMAN			YES	PLAG1,missense_variant,p.Tyr432Cys,ENST00000316981,NM_002655.2,NM_001114634.1;PLAG1,missense_variant,p.Tyr432Cys,ENST00000429357,;PLAG1,missense_variant,p.Tyr350Cys,ENST00000423799,NM_001114635.1;PLAG1,non_coding_transcript_exon_variant,,ENST00000522009,;							MODERATE	1295/1503	Y432C	PLAG1_HUMAN			Transcript		benign(0.397)	.	ENSP00000325546		CCDS6165.1			1	
KRT1	0	LGGM	GRCh37	12	53069068	53069068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	31	20	.	.	ENST00000252244.3:c.1844G>T	p.Gly615Val	p.G615V	ENST00000252244	NM_006121.3	615	gGc/gTc	0	1	1	UPI000013CD4D	0	NA	ENST00000252244		ENSG00000167768	6412		51	0		HGNC	p.G615V		KRT1		SNV			1				ENST00000252244	protein_coding	getma.org/?cm=var&var=hg19,12,53069068,C,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF95,Low_complexity_(Seg):seg		G/V		A	neutral	1903/2451		getma.org/?cm=msa&ty=f&p=K2C1_HUMAN&rb=562&re=628&var=G615V	deleterious_low_confidence(0)	H6VRG1_HUMAN			YES	KRT1,missense_variant,p.Gly615Val,ENST00000252244,NM_006121.3;KRT1,downstream_gene_variant,,ENST00000548765,;							MODERATE	1844/1935	G615V	K2C1_HUMAN			Transcript		unknown(0)	.	ENSP00000252244		CCDS8836.1			1	
SMR3B	0	LGGM	GRCh37	4	71255483	71255483	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	49	20	.	.	ENST00000304915.3:c.158C>A	p.Pro53His	p.P53H	ENST00000304915	NM_006685.3	53	cCc/cAc	0	1	1	UPI0000132226	0		ENST00000304915		ENSG00000171201	17326		69			HGNC	p.P53H		SMR3B		SNV							ENST00000304915	protein_coding			Pfam_domain:PF15621,hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF9,Low_complexity_(Seg):seg		P/H		A		307/785			deleterious_low_confidence(0)				YES	SMR3B,missense_variant,p.Pro53His,ENST00000304915,NM_006685.3;SMR3B,missense_variant,p.Pro53His,ENST00000504825,;SMR3B,downstream_gene_variant,,ENST00000508027,;							MODERATE	158/240		SMR3B_HUMAN			Transcript		unknown(0)	.	ENSP00000302400		CCDS3540.1			1	
UGT1A8	0	LGGM	GRCh37	2	234669102	234669102	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	33	21	.	.	ENST00000305208.5:c.169A>G	p.Ile57Val	p.I57V	ENST00000305208	NM_000463.2	57	Ata/Gta	0	1		UPI0000072F75	0	NA	ENST00000373450		ENSG00000241635	12540		54	-0.49		HGNC	p.I57V		UGT1A8		SNV			1				ENST00000360418	protein_coding	getma.org/?cm=var&var=hg19,2,234669102,A,G&fts=all						G	neutral	-/2407		getma.org/?cm=msa&ty=f&p=UD11_HUMAN&rb=28&re=524&var=I57V		Q5DSZ6_HUMAN				UGT1A8,missense_variant,p.Ile57Val,ENST00000360418,;UGT1A1,missense_variant,p.Ile57Val,ENST00000305208,NM_000463.2;UGT1A8,missense_variant,p.Ile57Val,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,;							MODIFIER	-/1593	I57V	UD18_HUMAN			Transcript			.	ENSP00000362549		CCDS33402.1			1	
LRRC7	0	LGGM	GRCh37	1	70489041	70489041	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	32	21	.	.	ENST00000035383.5:c.1664C>T	p.Ser555Phe	p.S555F	ENST00000035383	NM_020794.2	555	tCt/tTt	0	1	1	UPI000006F29B	0	NA	ENST00000035383		ENSG00000033122	18531		53	0		HGNC	p.S560F		LRRC7		SNV							ENST00000310961	protein_coding	getma.org/?cm=var&var=hg19,1,70489041,C,T&fts=all				S/F		T	neutral	1694/5000		getma.org/?cm=msa&ty=f&p=LRRC7_HUMAN&rb=508&re=693&var=S555F	tolerated(0.15)				YES	LRRC7,missense_variant,p.Ser560Phe,ENST00000310961,;LRRC7,missense_variant,p.Ser555Phe,ENST00000035383,NM_020794.2;LRRC7,intron_variant,,ENST00000415775,;RP11-181B18.1,intron_variant,,ENST00000414132,;RP11-181B18.1,upstream_gene_variant,,ENST00000425754,;							MODERATE	1664/4614	S555F	LRRC7_HUMAN			Transcript		benign(0.086)	.	ENSP00000035383		CCDS645.1			1	
IFT57	0	LGGM	GRCh37	3	107885715	107885715	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	23	21	.	.	ENST00000264538.3:c.967G>C	p.Ala323Pro	p.A323P	ENST00000264538	NM_018010.3	323	Gcc/Ccc	0	1	1	UPI0000039E8B	0	NA	ENST00000264538		ENSG00000114446	17367		44	2.015		HGNC	p.A323P		IFT57		SNV							ENST00000264538	protein_coding	getma.org/?cm=var&var=hg19,3,107885715,C,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10498,hmmpanther:PTHR16011		A/P		G	medium	1215/3203		getma.org/?cm=msa&ty=f&p=IFT57_HUMAN&rb=44&re=402&var=A323P	tolerated(0.12)				YES	IFT57,missense_variant,p.Ala323Pro,ENST00000264538,NM_018010.3;IFT57,non_coding_transcript_exon_variant,,ENST00000468021,;IFT57,3_prime_UTR_variant,,ENST00000478157,;							MODERATE	967/1290	A323P	IFT57_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000264538		CCDS2951.1			1	
ZNF280A	0	LGGM	GRCh37	22	22868861	22868861	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	50	21	.	.	ENST00000302097.3:c.1094T>A	p.Val365Asp	p.V365D	ENST00000302097	NM_080740.3	365	gTc/gAc	0	1	1	UPI000013E78F	0	getma.org/pdb.php?prot=Z280A_HUMAN&from=220&to=419&var=V365D	ENST00000302097		ENSG00000169548	18597		71	2.445		HGNC	p.V365D		ZNF280A		SNV							ENST00000302097	protein_coding	getma.org/?cm=var&var=hg19,22,22868861,A,T&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF121,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/D		T	medium	1347/2148		getma.org/?cm=msa&ty=f&p=Z280A_HUMAN&rb=220&re=419&var=V365D	deleterious(0)				YES	ZNF280A,missense_variant,p.Val365Asp,ENST00000302097,NM_080740.3;snoU13,upstream_gene_variant,,ENST00000459485,;							MODERATE	1094/1629	V365D	Z280A_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000302855		CCDS13800.1			1	
TRPC7	0	LGGM	GRCh37	5	135692997	135692997	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	31	21	.	.	ENST00000513104.1:c.79C>T	p.Arg27Trp	p.R27W	ENST00000513104	NM_020389.2	27	Cgg/Tgg	0	1	1	UPI000004F27A	0	NA	ENST00000513104		ENSG00000069018	20754		52	1.75		HGNC	p.R27W		TRPC7		SNV							ENST00000426057	protein_coding	getma.org/?cm=var&var=hg19,5,135692997,G,A&fts=all		TIGRFAM_domain:TIGR00870,hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF9		R/W		A	low	362/2987		getma.org/?cm=msa&ty=f&p=TRPC7_HUMAN&rb=1&re=48&var=R27W	deleterious(0.02)				YES	TRPC7,missense_variant,p.Arg27Trp,ENST00000513104,NM_020389.2;TRPC7,missense_variant,p.Arg27Trp,ENST00000355180,NM_001167577.1;TRPC7,missense_variant,p.Arg27Trp,ENST00000426057,NM_001167576.1;TRPC7,missense_variant,p.Arg27Trp,ENST00000502753,;TRPC7,missense_variant,p.Arg27Trp,ENST00000378459,;TRPC7,missense_variant,p.Arg27Trp,ENST00000352189,;TRPC7,missense_variant,p.Arg27Trp,ENST00000503275,;TRPC7,missense_variant,p.Arg27Trp,ENST00000514963,;							MODERATE	79/2589	R27W	TRPC7_HUMAN			Transcript		benign(0.261)	.	ENSP00000426070		CCDS47267.2			1	
ZFP42	0	LGGM	GRCh37	4	188924218	188924218	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	31	22	.	.	ENST00000326866.4:c.257T>A	p.Leu86Gln	p.L86Q	ENST00000326866	NM_174900.3	86	cTg/cAg	0	1	1	UPI0000049CA7	0	NA	ENST00000326866		ENSG00000179059	30949		53	1.59		HGNC	p.L86Q		ZFP42		SNV							ENST00000509524	protein_coding	getma.org/?cm=var&var=hg19,4,188924218,T,A&fts=all		hmmpanther:PTHR14003:SF8,hmmpanther:PTHR14003		L/Q		A	low	665/2651		getma.org/?cm=msa&ty=f&p=ZFP42_HUMAN&rb=1&re=168&var=L86Q	deleterious(0.01)				YES	ZFP42,missense_variant,p.Leu86Gln,ENST00000326866,NM_174900.3;ZFP42,missense_variant,p.Leu86Gln,ENST00000509524,;							MODERATE	257/933	L86Q	ZFP42_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000317686		CCDS3849.1			1	
ADCY8	0	LGGM	GRCh37	8	131916248	131916248	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	61	22	.	.	ENST00000286355.5:c.1681G>A	p.Gly561Ser	p.G561S	ENST00000286355	NM_001115.2	561	Ggt/Agt	0	1	1	UPI000012887C	0	getma.org/pdb.php?prot=ADCY8_HUMAN&from=405&to=589&var=G561S	ENST00000286355		ENSG00000155897	239		83	1.405		HGNC	p.G561S	rs545028650	ADCY8		SNV				9.62E-05			ENST00000286355	protein_coding	getma.org/?cm=var&var=hg19,8,131916248,C,T&fts=all	T:0	Gene3D:3.30.70.1230,Pfam_domain:PF00211,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,SMART_domains:SM00044,Superfamily_domains:SSF55073		G/S		T	low	3774/5938	7.50E-05	getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=405&re=589&var=G561S	tolerated(0.09)	E5RFR2_HUMAN	T:0	T:0.001	YES	ADCY8,missense_variant,p.Gly561Ser,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Gly561Ser,ENST00000377928,;ADCY8,missense_variant,p.Gly176Ser,ENST00000522949,;	0.000116	T:0.0002					MODERATE	1681/3756	G561S	ADCY8_HUMAN		T:0	Transcript		benign(0.105)	.	ENSP00000286355	5.77E-05	CCDS6363.1		T:0	1	
HRNR	0	LGGM	GRCh37	1	152185936	152185936	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	31	22	.	.	ENST00000368801.2:c.8169T>C	p.His2723=	p.H2723=	ENST00000368801	NM_001009931.2	2723	caT/caC	0	1	1	UPI00001D7CAD	0		ENST00000368801		ENSG00000197915	20846		53			HGNC	p.H2723H	rs748715036	HRNR		SNV							ENST00000368801	protein_coding			Low_complexity_(Seg):seg		H		G		8245/9623				Q5W8V9_HUMAN			YES	HRNR,synonymous_variant,p.=,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							LOW	8169/8553		HORN_HUMAN			Transcript			.	ENSP00000357791	1.67E-05	CCDS30859.1			1	
ADNP2	0	LGGM	GRCh37	18	77894782	77894782	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	32	23	.	.	ENST00000262198.4:c.1486C>T	p.Arg496Trp	p.R496W	ENST00000262198	NM_014913.3	496	Cgg/Tgg	0	1	1	UPI0000071DEA	0	NA	ENST00000262198		ENSG00000101544	23803		55	0.345		HGNC	p.R496W	rs372177595,COSM564344	ADNP2	6.06E-05	SNV	T:0					0,1	ENST00000262198	protein_coding	getma.org/?cm=var&var=hg19,18,77894782,C,T&fts=all		hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740		R/W	T:0.0001	T	neutral	1941/5393		getma.org/?cm=msa&ty=f&p=ADNP2_HUMAN&rb=401&re=600&var=R496W	deleterious(0.02)	H0YLN6_HUMAN			YES	ADNP2,missense_variant,p.Arg496Trp,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;					0,1		MODERATE	1486/3396	R496W	ADNP2_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000262198	8.24E-06	CCDS32853.1			1	
ECT2L	0	LGGM	GRCh37	6	139167729	139167729	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	75	27	.	.	ENST00000423192.1:c.818A>G	p.His273Arg	p.H273R	ENST00000423192		273	cAt/cGt	0	1		UPI0000E86804	0	NA	ENST00000367682		ENSG00000203734	21118		102	-0.29		HGNC	p.H204R		ECT2L		SNV							ENST00000541398	protein_coding	getma.org/?cm=var&var=hg19,6,139167729,A,G&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF70		H/R		G	neutral	921/4261		getma.org/?cm=msa&ty=f&p=ECT2L_HUMAN&rb=269&re=468&var=H273R	tolerated(0.58)	B7ZBI6_HUMAN				ECT2L,missense_variant,p.His273Arg,ENST00000423192,;ECT2L,missense_variant,p.His273Arg,ENST00000367682,NM_001077706.2,NM_001195037.2;ECT2L,missense_variant,p.His204Arg,ENST00000541398,;ECT2L,upstream_gene_variant,,ENST00000495970,;							MODERATE	818/2715	H273R	ECT2L_HUMAN			Transcript		benign(0)	.	ENSP00000356655		CCDS43508.1			1	
YAE1D1	0	LGGM	GRCh37	7	39612156	39612156	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	54	29	.	.	ENST00000223273.2:c.532A>G	p.Ile178Val	p.I178V	ENST00000223273	NM_020192.3	178	Ata/Gta	0	1	1	UPI0000074023	0	NA	ENST00000223273		ENSG00000241127	24857		83	-1.1		HGNC	p.I178V		YAE1D1		SNV							ENST00000223273	protein_coding	getma.org/?cm=var&var=hg19,7,39612156,A,G&fts=all		hmmpanther:PTHR18829,hmmpanther:PTHR18829:SF0		I/V		G	neutral	575/899		getma.org/?cm=msa&ty=f&p=YAED1_HUMAN&rb=1&re=200&var=I178V	tolerated(0.84)				YES	YAE1D1,missense_variant,p.Ile178Val,ENST00000223273,NM_020192.3;YAE1D1,intron_variant,,ENST00000432096,NM_001282446.1;YAE1D1,downstream_gene_variant,,ENST00000448268,;YAE1D1,downstream_gene_variant,,ENST00000469737,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000485025,;YAE1D1,downstream_gene_variant,,ENST00000474392,;AC011290.5,upstream_gene_variant,,ENST00000438427,;							MODERATE	532/681	I178V	YAED1_HUMAN			Transcript		benign(0)	.	ENSP00000223273		CCDS5459.1			1	
RBM12	0	LGGM	GRCh37	20	34240904	34240904	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	32	29	.	.	ENST00000374114.3:c.2341G>T	p.Gly781Trp	p.G781W	ENST00000374114	NM_001198838.1	781	Ggg/Tgg	0	1		UPI0000073D24	0	NA	ENST00000359646		ENSG00000244462	9898		61	0.895		HGNC	p.G781W		RBM12		SNV							ENST00000359646	protein_coding	getma.org/?cm=var&var=hg19,20,34240904,C,A&fts=all		hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF31,Low_complexity_(Seg):seg		G/W		A	low	2492/5332		getma.org/?cm=msa&ty=f&p=RBM12_HUMAN&rb=627&re=826&var=G781W	deleterious(0)	Q69YJ7_HUMAN,Q5JX62_HUMAN,A6PVI1_HUMAN,A6PVI0_HUMAN				RBM12,missense_variant,p.Gly781Trp,ENST00000374114,NM_001198838.1,NM_006047.5,NM_001198840.1;RBM12,missense_variant,p.Gly781Trp,ENST00000359646,;RBM12,missense_variant,p.Gly781Trp,ENST00000374104,NM_152838.3;CPNE1,intron_variant,,ENST00000317619,;CPNE1,intron_variant,,ENST00000352393,;CPNE1,intron_variant,,ENST00000397446,;CPNE1,intron_variant,,ENST00000397445,NM_152927.2,NM_152928.2;CPNE1,intron_variant,,ENST00000397443,NM_001198863.1,NM_152926.2,NM_152925.2;CPNE1,intron_variant,,ENST00000317677,NM_003915.5;CPNE1,intron_variant,,ENST00000437340,;CPNE1,intron_variant,,ENST00000397442,;CPNE1,intron_variant,,ENST00000430570,;CPNE1,intron_variant,,ENST00000414664,;CPNE1,intron_variant,,ENST00000412056,;CPNE1,intron_variant,,ENST00000434795,;CPNE1,intron_variant,,ENST00000437100,;CPNE1,intron_variant,,ENST00000420363,;CPNE1,intron_variant,,ENST00000439806,;CPNE1,intron_variant,,ENST00000440240,;CPNE1,intron_variant,,ENST00000416778,;CPNE1,intron_variant,,ENST00000414711,;CPNE1,intron_variant,,ENST00000458038,;CPNE1,intron_variant,,ENST00000435747,;RBM12,downstream_gene_variant,,ENST00000424458,;RBM12,downstream_gene_variant,,ENST00000431148,;RBM12,downstream_gene_variant,,ENST00000435161,;CPNE1,intron_variant,,ENST00000483359,;CPNE1,intron_variant,,ENST00000401607,;RP1-309K20.6,intron_variant,,ENST00000541176,;CPNE1,intron_variant,,ENST00000439669,;RP1-309K20.6,intron_variant,,ENST00000454607,;RP1-309K20.6,intron_variant,,ENST00000441563,;							MODERATE	2341/2799	G781W	RBM12_HUMAN			Transcript		unknown(0)	.	ENSP00000352668		CCDS13261.1			1	
IQCA1	0	LGGM	GRCh37	2	237374282	237374282	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	80	31	.	.	ENST00000409907.3:c.792T>A	p.Asn264Lys	p.N264K	ENST00000409907	NM_024726.4	264	aaT/aaA	0	1	1	UPI000000DA5B	0	NA	ENST00000409907		ENSG00000132321	26195		111	1.04		HGNC	p.N264K		IQCA1		SNV							ENST00000254653	protein_coding	getma.org/?cm=var&var=hg19,2,237374282,A,T&fts=all		hmmpanther:PTHR14690,hmmpanther:PTHR14690:SF2		N/K		T	low	1067/3281		getma.org/?cm=msa&ty=f&p=IQCA1_HUMAN&rb=5&re=552&var=N264K	tolerated(0.58)	Q53SG8_HUMAN			YES	IQCA1,missense_variant,p.Asn264Lys,ENST00000409907,NM_024726.4;IQCA1,missense_variant,p.Asn260Lys,ENST00000309507,NM_001270585.1;IQCA1,missense_variant,p.Asn264Lys,ENST00000431676,NM_001270584.1;IQCA1,missense_variant,p.Asn283Lys,ENST00000418802,;IQCA1,missense_variant,p.Asn264Lys,ENST00000254653,;							MODERATE	792/2469	N264K	IQCA1_HUMAN			Transcript		benign(0.005)	.	ENSP00000387347		CCDS46549.1			1	
TROAP	0	LGGM	GRCh37	12	49717518	49717518	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	30	31	.	.	ENST00000257909.3:c.127G>A	p.Glu43Lys	p.E43K	ENST00000257909	NM_005480.3	43	Gag/Aag	0	1	1	UPI000007108A	0	NA	ENST00000257909		ENSG00000135451	12327		61	1.495		HGNC	p.E43K		TROAP		SNV							ENST00000549534	protein_coding	getma.org/?cm=var&var=hg19,12,49717518,G,A&fts=all		hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3		E/K		A	low	203/2527		getma.org/?cm=msa&ty=f&p=TROAP_HUMAN&rb=1&re=777&var=E43K	deleterious(0.01)	F8W052_HUMAN			YES	TROAP,missense_variant,p.Glu43Lys,ENST00000551245,;TROAP,missense_variant,p.Glu43Lys,ENST00000257909,NM_005480.3;TROAP,missense_variant,p.Glu43Lys,ENST00000547807,;TROAP,missense_variant,p.Glu43Lys,ENST00000549534,;TROAP,missense_variant,p.Glu43Lys,ENST00000550709,;TROAP,missense_variant,p.Glu43Lys,ENST00000380327,NM_001100620.1;TROAP,missense_variant,p.Glu43Lys,ENST00000550346,;TROAP,missense_variant,p.Glu43Lys,ENST00000548311,NM_001278324.1;TROAP,missense_variant,p.Glu43Lys,ENST00000551567,;TROAP,missense_variant,p.Glu43Lys,ENST00000549275,;TROAP,upstream_gene_variant,,ENST00000547923,;RP11-161H23.9,intron_variant,,ENST00000553259,;TROAP,missense_variant,p.Glu43Lys,ENST00000551192,;TROAP,missense_variant,p.Glu43Lys,ENST00000546735,;TROAP,missense_variant,p.Glu43Lys,ENST00000546776,;TROAP,missense_variant,p.Glu43Lys,ENST00000549891,;TROAP,upstream_gene_variant,,ENST00000548817,;							MODERATE	127/2337	E43K	TROAP_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000257909		CCDS8784.1			1	
FGG	0	LGGM	GRCh37	4	155533732	155533732	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093032	H093032N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	56	32	.	.	ENST00000336098.3:c.30A>G	p.Leu10=	p.L10=	ENST00000336098	NM_021870.2	10	ttA/ttG	0	1	1	UPI000012A78D	0		ENST00000336098		ENSG00000171557	3694		88			HGNC	p.L10L		FGG		SNV			1				ENST00000336098	protein_coding			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF22,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM		L		C		69/1659				C9JU00_HUMAN,C9JPQ9_HUMAN			YES	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,intron_variant,,ENST00000443553,;FGG,intron_variant,,ENST00000393846,;FGG,non_coding_transcript_exon_variant,,ENST00000492082,;FGG,non_coding_transcript_exon_variant,,ENST00000473393,;FGG,non_coding_transcript_exon_variant,,ENST00000465336,;FGG,non_coding_transcript_exon_variant,,ENST00000464532,;FGG,non_coding_transcript_exon_variant,,ENST00000484695,;FGG,upstream_gene_variant,,ENST00000465913,;							LOW	30/1362		FIBG_HUMAN			Transcript			.	ENSP00000336829		CCDS3788.1			1	
UGT8	0	LGGM	GRCh37	4	115597399	115597399	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	77	32	.	.	ENST00000310836.6:c.1581G>A	p.Lys527=	p.K527=	ENST00000310836	NM_001128174.1	527	aaG/aaA	0	1	1	UPI000013F094	0		ENST00000310836		ENSG00000174607	12555		109			HGNC	p.K527K		UGT8		SNV							ENST00000394511	protein_coding					K		A		2103/4084				D6RFW2_HUMAN			YES	UGT8,synonymous_variant,p.=,ENST00000310836,NM_001128174.1;UGT8,synonymous_variant,p.=,ENST00000394511,NM_003360.3;							LOW	1581/1626		CGT_HUMAN			Transcript			.	ENSP00000311648		CCDS3705.1			1	
ERRFI1	0	LGGM	GRCh37	1	8073487	8073487	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	22	33	.	.	ENST00000377482.5:c.1172C>A	p.Ser391Ter	p.S391*	ENST00000377482	NM_018948.3	391	tCa/tAa	0	1	1	UPI000012F0FC	0	NA	ENST00000377482		ENSG00000116285	18185		55	0		HGNC	p.S391X		ERRFI1		SNV							ENST00000377482	protein_coding	getma.org/?cm=var&var=hg19,1,8073487,G,T&fts=all		hmmpanther:PTHR14254		S/*		T	NA	1396/3104		NA		I6S2Y9_HUMAN			YES	ERRFI1,stop_gained,p.Ser391Ter,ENST00000377482,NM_018948.3;ERRFI1,3_prime_UTR_variant,,ENST00000467067,;ERRFI1,intron_variant,,ENST00000474874,;ERRFI1,downstream_gene_variant,,ENST00000469499,;ERRFI1,downstream_gene_variant,,ENST00000487559,;							HIGH	1172/1389	S391*	ERRFI_HUMAN			Transcript			.	ENSP00000366702		CCDS94.1			1	
SLC9A2	0	LGGM	GRCh37	2	103281630	103281630	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	60	34	.	.	ENST00000233969.2:c.825C>T	p.Ile275=	p.I275=	ENST00000233969	NM_003048.3	275	atC/atT	0	1	1	UPI000012FD21	0		ENST00000233969		ENSG00000115616	11072		94			HGNC	p.I275I	COSM1326027	SLC9A2		SNV						1	ENST00000233969	protein_coding			hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110,Pfam_domain:PF00999,TIGRFAM_domain:TIGR00840		I		T		967/5410							YES	SLC9A2,synonymous_variant,p.=,ENST00000233969,NM_003048.3;					1		LOW	825/2439		SL9A2_HUMAN			Transcript			.	ENSP00000233969		CCDS2062.1			1	
SHC4	0	LGGM	GRCh37	15	49118267	49118267	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	60	35	.	.	ENST00000332408.4:c.1794G>T	p.Met598Ile	p.M598I	ENST00000332408	NM_203349.3	598	atG/atT	0	1	1	UPI00001B00C8	0	getma.org/pdb.php?prot=SHC4_HUMAN&from=526&to=617&var=M598I	ENST00000332408		ENSG00000185634	16743		95	1.74		HGNC	p.M312I		SHC4		SNV							ENST00000537958	protein_coding	getma.org/?cm=var&var=hg19,15,49118267,C,A&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR10337,hmmpanther:PTHR10337:SF12,Gene3D:3.30.505.10,SMART_domains:SM00252,Superfamily_domains:SSF55550,Prints_domain:PR00401		M/I		A	low	2223/4558		getma.org/?cm=msa&ty=f&p=SHC4_HUMAN&rb=526&re=617&var=M598I	deleterious(0.02)	H0YLZ2_HUMAN,F5H5M1_HUMAN,B3KWT2_HUMAN,B3KWE9_HUMAN			YES	SHC4,missense_variant,p.Met598Ile,ENST00000332408,NM_203349.3;SHC4,missense_variant,p.Met355Ile,ENST00000396535,;SHC4,missense_variant,p.Met312Ile,ENST00000537958,;							MODERATE	1794/1893	M598I	SHC4_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000329668		CCDS10130.1			1	
KIAA1731	0	LGGM	GRCh37	11	93432543	93432543	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	105	39	.	.	ENST00000325212.6:c.4465del	p.Glu1489ArgfsTer24	p.E1489Rfs*24	ENST00000325212		1489	Gag/ag	0	1	1	UPI0000251F0E	0		ENST00000325212		ENSG00000166004	29366		144			HGNC	p.E1489fs		KIAA1731		deletion							ENST00000411936	protein_coding			hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF22		E/X		-		4627/8055				E9PM20_HUMAN			YES	KIAA1731,frameshift_variant,p.Glu1489ArgfsTer24,ENST00000325212,;KIAA1731,frameshift_variant,p.Glu1489ArgfsTer24,ENST00000411936,NM_033395.1;KIAA1731,5_prime_UTR_variant,,ENST00000344196,;KIAA1731,5_prime_UTR_variant,,ENST00000530425,;KIAA1731,intron_variant,,ENST00000531700,;KIAA1731,downstream_gene_variant,,ENST00000531877,;KIAA1731,downstream_gene_variant,,ENST00000531622,;							HIGH	4465/7806		K1731_HUMAN			Transcript			.	ENSP00000316681		CCDS44708.1			1	
SPATA16	0	LGGM	GRCh37	3	172835243	172835243	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	84	39	.	.	ENST00000351008.3:c.279T>A	p.Thr93=	p.T93=	ENST00000351008	NM_031955.5	93	acT/acA	0	1	1	UPI000013D9BF	0		ENST00000351008		ENSG00000144962	29935		123			HGNC	p.T93T		SPATA16		SNV			1				ENST00000351008	protein_coding			hmmpanther:PTHR22904:SF283,hmmpanther:PTHR22904,Pfam_domain:PF15015		T		T		463/2106							YES	SPATA16,synonymous_variant,p.=,ENST00000351008,NM_031955.5;							LOW	279/1710		SPT16_HUMAN			Transcript			.	ENSP00000341765		CCDS3221.1			1	
TRIO	0	LGGM	GRCh37	5	14378141	14378141	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	83	41	.	.	ENST00000344204.4:c.3352C>G	p.Gln1118Glu	p.Q1118E	ENST00000344204	NM_007118.2	1118	Caa/Gaa	0	1	1	UPI000034ECE6	0	NA	ENST00000344204		ENSG00000038382	12303		124	1.32		HGNC	p.Q1059E		TRIO		SNV			1				ENST00000512070	protein_coding	getma.org/?cm=var&var=hg19,5,14378141,C,G&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,Superfamily_domains:SSF46966		Q/E		G	low	3376/11100		getma.org/?cm=msa&ty=f&p=TRIO_HUMAN&rb=1012&re=1137&var=Q1118E					YES	TRIO,missense_variant,p.Gln1118Glu,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Gln1118Glu,ENST00000537187,;TRIO,missense_variant,p.Gln851Glu,ENST00000513206,;TRIO,missense_variant,p.Gln1069Glu,ENST00000509967,;TRIO,missense_variant,p.Gln1059Glu,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;							MODERATE	3352/9294	Q1118E	TRIO_HUMAN			Transcript		benign(0.017)	.	ENSP00000339299		CCDS3883.1			1	
OR5AN1	0	LGGM	GRCh37	11	59132107	59132107	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	64	41	.	.	ENST00000313940.2:c.176C>G	p.Pro59Arg	p.P59R	ENST00000313940	NM_001004729.1	59	cCc/cGc	0	1	1	UPI000004B1FD	0	NA	ENST00000313940		ENSG00000176495	15255		105	4.355		HGNC	p.P59R		OR5AN1		SNV							ENST00000313940	protein_coding	getma.org/?cm=var&var=hg19,11,59132107,C,G&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF262,Superfamily_domains:SSF81321		P/R		G	high	223/1037		getma.org/?cm=msa&ty=f&p=O5AN1_HUMAN&rb=1&re=139&var=P59R	deleterious(0)				YES	OR5AN1,missense_variant,p.Pro59Arg,ENST00000313940,NM_001004729.1;							MODERATE	176/936	P59R	O5AN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000320302		CCDS31559.1			1	
CHD8	0	LGGM	GRCh37	14	21863125	21863125	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	83	41	.	.	ENST00000399982.2:c.5336G>A	p.Arg1779His	p.R1779H	ENST00000399982	NM_001170629.1	1779	cGt/cAt	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		124	2.42		HGNC	p.R1779H		CHD8		SNV			1				ENST00000557364	protein_coding	getma.org/?cm=var&var=hg19,14,21863125,C,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,Low_complexity_(Seg):seg		R/H		T	medium	5401/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=1648&re=1847&var=R1779H	deleterious(0.04)				YES	CHD8,missense_variant,p.Arg1779His,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Arg1779His,ENST00000557364,;CHD8,missense_variant,p.Arg1500His,ENST00000430710,NM_020920.3;CHD8,downstream_gene_variant,,ENST00000555935,;CHD8,upstream_gene_variant,,ENST00000553870,;SNORD8,downstream_gene_variant,,ENST00000363915,NR_002916.2;SNORD9,upstream_gene_variant,,ENST00000362566,NR_003029.2;CHD8,downstream_gene_variant,,ENST00000555962,;CHD8,non_coding_transcript_exon_variant,,ENST00000555301,;CHD8,upstream_gene_variant,,ENST00000557329,;RP11-689J19.1,upstream_gene_variant,,ENST00000480068,;							MODERATE	5336/7746	R1779H	CHD8_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000382863		CCDS53885.1			1	
DNAAF3	0	LGGM	GRCh37	19	55677916	55677916	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	97	43	.	.	ENST00000527223.2:c.101C>A	p.Ala34Glu	p.A34E	ENST00000527223	NM_001256714.1	34	gCg/gAg	0	1		UPI0000202C4D	0	NA	ENST00000524407		ENSG00000167646	30492		140	0.69		HGNC	p.A34E		DNAAF3		SNV			1				ENST00000391719	protein_coding	getma.org/?cm=var&var=hg19,19,55677916,G,T&fts=all						T	neutral	May-59		getma.org/?cm=msa&ty=f&p=H0YDK6_HUMAN&rb=1&re=133&var=A25E		M0R359_HUMAN				DNAAF3,missense_variant,p.Ala34Glu,ENST00000527223,NM_001256714.1;DNAAF3,missense_variant,p.Ala34Glu,ENST00000391720,NM_178837.4,NM_001256715.1,NM_001256716.1;DNAAF3,5_prime_UTR_variant,,ENST00000524407,;DNAAF3,5_prime_UTR_variant,,ENST00000532817,;DNAAF3,5_prime_UTR_variant,,ENST00000526003,;DNAAF3,5_prime_UTR_variant,,ENST00000534170,;SYT5,downstream_gene_variant,,ENST00000354308,NM_003180.2;SYT5,downstream_gene_variant,,ENST00000590851,;DNAAF3,upstream_gene_variant,,ENST00000455045,;snoU13,upstream_gene_variant,,ENST00000459370,;CTD-2587H24.5,intron_variant,,ENST00000591665,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000528476,;DNAAF3,upstream_gene_variant,,ENST00000527166,;DNAAF3,upstream_gene_variant,,ENST00000527292,;DNAAF3,5_prime_UTR_variant,,ENST00000528412,;DNAAF3,5_prime_UTR_variant,,ENST00000534214,;DNAAF3,non_coding_transcript_exon_variant,,ENST00000586877,;DNAAF3,upstream_gene_variant,,ENST00000533527,;DNAAF3,upstream_gene_variant,,ENST00000526959,;							MODIFIER	-/1626	A25E	DAAF3_HUMAN			Transcript			.	ENSP00000432046		CCDS59422.1			1	
TTN	0	LGGM	GRCh37	2	179414091	179414091	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H093032	H093032N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	111	46	.	.	ENST00000589042.1:c.92262T>A	p.Tyr30754Ter	p.Y30754*	ENST00000589042	NM_001267550.1	30754	taT/taA	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		157	0		HGNC	p.Y21814X		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179414091,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		Y/*		T	NA	87564/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Tyr30754Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Tyr29113Ter,ENST00000591111,;TTN,stop_gained,p.Tyr28186Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Tyr21881Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Tyr21814Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Tyr21689Ter,ENST00000460472,NM_003319.4;RP11-65L3.2,non_coding_transcript_exon_variant,,ENST00000603415,;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,;							HIGH	87339/103053	Y29113*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SLITRK6	0	LGGM	GRCh37	13	86369982	86369982	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093032	H093032N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	46	53	.	.	ENST00000400286.2:c.662C>T	p.Ala221Val	p.A221V	ENST00000400286	NM_032229.2	221	gCc/gTc	0	1	1	UPI000004C9D6	0	getma.org/pdb.php?prot=SLIK6_HUMAN&from=218&to=269&var=A221V	ENST00000400286		ENSG00000184564	23503		99	-0.08		HGNC	p.A221V		SLITRK6		SNV			1				ENST00000400286	protein_coding	getma.org/?cm=var&var=hg19,13,86369982,G,A&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373		A/V		A	neutral	1261/4318		getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=218&re=269&var=A221V	tolerated(1)				YES	SLITRK6,missense_variant,p.Ala221Val,ENST00000400286,NM_032229.2;							MODERATE	662/2526	A221V	SLIK6_HUMAN			Transcript		benign(0.001)	.	ENSP00000383143		CCDS41903.1			1	
FLG2	0	LGGM	GRCh37	1	152327692	152327692	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093032	H093032N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093032N.bam, H093032T.bam	Illumina HiSeq	169	96	.	.	ENST00000388718.5:c.2570G>A	p.Gly857Asp	p.G857D	ENST00000388718	NM_001014342.2	857	gGc/gAc	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		265	2.095		HGNC	p.G857D		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152327692,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G/D		T	medium	2643/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=461&re=1139&var=G857D					YES	FLG2,missense_variant,p.Gly857Asp,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	2570/7176	G857D	FILA2_HUMAN			Transcript		unknown(0)	.	ENSP00000373370		CCDS30861.1			1	
STK36	0	LGGM	GRCh37	2	219545393	219545393	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	8	2	.	.	ENST00000295709.3:c.1204C>A	p.Arg402=	p.R402=	ENST00000295709	NM_015690.4	402	Cgg/Agg	0	1	1	UPI00000342FC	0		ENST00000295709		ENSG00000163482	17209		10			HGNC	p.R402R		STK36		SNV							ENST00000392105	protein_coding			hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983,Superfamily_domains:SSF48371		R		A		1483/4933				C9JDA4_HUMAN,C9J1B8_HUMAN			YES	STK36,synonymous_variant,p.=,ENST00000295709,NM_015690.4;STK36,synonymous_variant,p.=,ENST00000392106,;STK36,synonymous_variant,p.=,ENST00000392105,NM_001243313.1;STK36,synonymous_variant,p.=,ENST00000440309,;STK36,downstream_gene_variant,,ENST00000424080,;STK36,synonymous_variant,p.=,ENST00000414413,;STK36,upstream_gene_variant,,ENST00000422778,;STK36,upstream_gene_variant,,ENST00000470568,;							LOW	1204/3948		STK36_HUMAN			Transcript			.	ENSP00000295709		CCDS2421.1			1	
ROCK1	0	LGGM	GRCh37	18	18559883	18559887	+	frameshift_variant	Frame_Shift_Del	DEL	AGTTC	AGTTC	-	novel	by Submitter	H093134	H093134N.bam	AGTTC	AGTTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	4	2	.	.	ENST00000399799.2:c.2638_2642del	p.Glu880ThrfsTer3	p.E880Tfs*3	ENST00000399799	NM_005406.2	880	GAACTa/a	0	1	1	UPI000006F0A4	0		ENST00000399799		ENSG00000067900	10251		6			HGNC	p.880_881del		ROCK1		deletion							ENST00000399799	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF28,PIRSF_domain:PIRSF037568		EL/X		-		3579-3583/9484							YES	ROCK1,frameshift_variant,p.Glu880ThrfsTer3,ENST00000399799,NM_005406.2;ROCK1,non_coding_transcript_exon_variant,,ENST00000583556,;							HIGH	2638-2642/4065		ROCK1_HUMAN			Transcript			.	ENSP00000382697		CCDS11870.2			1	
ZNF831	0	LGGM	GRCh37	20	57769659	57769659	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	33	3	.	.	ENST00000371030.2:c.3585C>A	p.Pro1195=	p.P1195=	ENST00000371030	NM_178457.2	1195	ccC/ccA	0	1	1	UPI00001D82E4	0		ENST00000371030		ENSG00000124203	16167		36			HGNC	p.P1195P	rs377420696,COSM1533877	ZNF831		SNV	A:0			0.000104		0,1	ENST00000371030	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		P	A:0.0001	A		3585/9404	4.60E-05						YES	ZNF831,synonymous_variant,p.=,ENST00000371030,NM_178457.2;					0,1		LOW	3585/5034		ZN831_HUMAN			Transcript			.	ENSP00000360069	3.31E-05	CCDS42894.1			1	
SPEF2	0	LGGM	GRCh37	5	35790263	35790263	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	44	3	.	.	ENST00000356031.3:c.4448-2179C>A		*1483*	ENST00000356031	NM_024867.3			0	1	1	UPI0001505B9F	0		ENST00000356031		ENSG00000152582	26293		47			HGNC	p.Q264K		SPEF2		SNV							ENST00000303129	protein_coding							A		-/5681							YES	SPEF2,missense_variant,p.Gln264Lys,ENST00000303129,;SPEF2,intron_variant,,ENST00000440995,;SPEF2,intron_variant,,ENST00000356031,NM_024867.3;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,3_prime_UTR_variant,,ENST00000506526,;SPEF2,3_prime_UTR_variant,,ENST00000513078,;							MODIFIER	-/5469		SPEF2_HUMAN			Transcript			.	ENSP00000348314		CCDS43309.1			1	
ARFIP2	0	LGGM	GRCh37	11	6498457	6498457	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	11	3	.	.	ENST00000254584.2:c.912T>A	p.Ala304=	p.A304=	ENST00000254584	NM_012402.3	304	gcT/gcA	0	1	1	UPI000012566A	0		ENST00000254584		ENSG00000132254	17160		14			HGNC	p.A304A		ARFIP2		SNV							ENST00000396777	protein_coding			Gene3D:1.20.1270.60,Pfam_domain:PF06456,PROSITE_profiles:PS50870,hmmpanther:PTHR12141,hmmpanther:PTHR12141:SF3,SMART_domains:SM01015,Superfamily_domains:SSF103657		A		T		996/2543				B4DXH2_HUMAN			YES	ARFIP2,synonymous_variant,p.=,ENST00000254584,NM_012402.3;ARFIP2,synonymous_variant,p.=,ENST00000396777,NM_001242854.1;ARFIP2,synonymous_variant,p.=,ENST00000423813,NM_001242855.1;ARFIP2,synonymous_variant,p.=,ENST00000445086,NM_001242856.1;TRIM3,upstream_gene_variant,,ENST00000525074,NM_001248006.1;TRIM3,upstream_gene_variant,,ENST00000359518,NM_006458.3;TRIM3,upstream_gene_variant,,ENST00000345851,NM_033278.3;TIMM10B,upstream_gene_variant,,ENST00000254616,NM_012192.3;TRIM3,upstream_gene_variant,,ENST00000537602,;TRIM3,upstream_gene_variant,,ENST00000536344,NM_001248007.1;TRIM3,upstream_gene_variant,,ENST00000528227,;ARFIP2,downstream_gene_variant,,ENST00000525235,;TIMM10B,upstream_gene_variant,,ENST00000530751,;TRIM3,upstream_gene_variant,,ENST00000529529,;TRIM3,upstream_gene_variant,,ENST00000528932,;ARFIP2,3_prime_UTR_variant,,ENST00000531037,;ARFIP2,downstream_gene_variant,,ENST00000530410,;ARFIP2,downstream_gene_variant,,ENST00000529847,;TIMM10B,upstream_gene_variant,,ENST00000533379,;TIMM10B,upstream_gene_variant,,ENST00000472836,;TIMM10B,upstream_gene_variant,,ENST00000528908,;TIMM10B,upstream_gene_variant,,ENST00000464330,;ARFIP2,downstream_gene_variant,,ENST00000525329,;TIMM10B,upstream_gene_variant,,ENST00000531462,;							LOW	912/1026		ARFP2_HUMAN			Transcript			.	ENSP00000254584		CCDS7765.1			1	
EVA1C	0	LGGM	GRCh37	21	33840098	33840098	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	25	3	.	.	ENST00000300255.2:c.576C>A	p.Gly192=	p.G192=	ENST00000300255	NM_058187.3	192	ggC/ggA	0	1	1	UPI00000373F4	0		ENST00000300255		ENSG00000166979	13239		28			HGNC	p.G192G		EVA1C		SNV							ENST00000401402	protein_coding			PROSITE_profiles:PS50228,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF220,Pfam_domain:PF02140		G		A		1049/1998				C9JS02_HUMAN,B3KWG0_HUMAN			YES	EVA1C,synonymous_variant,p.=,ENST00000300255,NM_058187.3;EVA1C,synonymous_variant,p.=,ENST00000382699,NM_001286556.1;EVA1C,synonymous_variant,p.=,ENST00000401402,;EVA1C,synonymous_variant,p.=,ENST00000412833,;EVA1C,non_coding_transcript_exon_variant,,ENST00000459833,;EVA1C,synonymous_variant,p.=,ENST00000457807,;EVA1C,3_prime_UTR_variant,,ENST00000437338,;EVA1C,3_prime_UTR_variant,,ENST00000435323,;EVA1C,non_coding_transcript_exon_variant,,ENST00000464037,;EVA1C,non_coding_transcript_exon_variant,,ENST00000469079,;							LOW	576/1326		EVA1C_HUMAN			Transcript			.	ENSP00000300255		CCDS13614.1			1	
PLAGL2	0	LGGM	GRCh37	20	30784306	30784306	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	27	3	.	.	ENST00000246229.4:c.1440G>T	p.Thr480=	p.T480=	ENST00000246229	NM_002657.3	480	acG/acT	0	1	1	UPI0000001C1D	0		ENST00000246229		ENSG00000126003	9047		30			HGNC	p.T480T		PLAGL2		SNV							ENST00000246229	protein_coding			hmmpanther:PTHR10032:SF190,hmmpanther:PTHR10032		T		A		1705/5705							YES	PLAGL2,synonymous_variant,p.=,ENST00000246229,NM_002657.3;							LOW	1440/1491		PLAL2_HUMAN			Transcript			.	ENSP00000246229		CCDS13197.1			1	
GPR35	0	LGGM	GRCh37	2	241569900	241569900	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	11	3	.	.	ENST00000438013.2:c.624G>T	p.Leu208=	p.L208=	ENST00000438013		208	ctG/ctT	0	1		UPI00001406F4	0		ENST00000319838		ENSG00000178623	4492		14			HGNC	p.L177L		GPR35		SNV			1				ENST00000403859	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF9,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		T		1473/2249								GPR35,synonymous_variant,p.=,ENST00000319838,NM_001195381.1;GPR35,synonymous_variant,p.=,ENST00000403859,NM_001195382.1;GPR35,synonymous_variant,p.=,ENST00000438013,;GPR35,synonymous_variant,p.=,ENST00000430267,;GPR35,synonymous_variant,p.=,ENST00000407714,NM_005301.3;							LOW	531/930		GPR35_HUMAN			Transcript			.	ENSP00000322731		CCDS2541.1			1	
ZNF266	0	LGGM	GRCh37	19	9523972	9523972	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	45	3	.	.	ENST00000592904.1:c.1629G>C	p.Ala543=	p.A543=	ENST00000592904		543	gcG/gcC	0	1		UPI00001D4705	0		ENST00000588221		ENSG00000174652	13059		48			HGNC	p.A543A		ZNF266		SNV							ENST00000361451	protein_coding			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF117		A		G		2805/3503				K7EQP7_HUMAN				ZNF266,synonymous_variant,p.=,ENST00000592904,;ZNF266,synonymous_variant,p.=,ENST00000361451,NM_006631.3;ZNF266,synonymous_variant,p.=,ENST00000588221,;ZNF266,synonymous_variant,p.=,ENST00000361151,;ZNF266,synonymous_variant,p.=,ENST00000590306,;ZNF266,synonymous_variant,p.=,ENST00000588933,NM_001271314.1;ZNF266,synonymous_variant,p.=,ENST00000592292,;ZNF266,downstream_gene_variant,,ENST00000591213,;							LOW	1629/1650		ZN266_HUMAN			Transcript			.	ENSP00000468491		CCDS12213.1			1	
C5orf30	0	LGGM	GRCh37	5	102612137	102612137	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	40	3	.	.	ENST00000319933.2:c.517C>A	p.Leu173Ile	p.L173I	ENST00000319933	NM_033211.2	173	Cta/Ata	0	1	1	UPI0000070E95	0	NA	ENST00000319933		ENSG00000181751	25052		43	0.895		HGNC	p.L173I		C5orf30		SNV							ENST00000510890	protein_coding	getma.org/?cm=var&var=hg19,5,102612137,C,A&fts=all		hmmpanther:PTHR31224:SF2,hmmpanther:PTHR31224,Pfam_domain:PF15435		L/I		A	low	825/3049		getma.org/?cm=msa&ty=f&p=CE030_HUMAN&rb=19&re=204&var=L173I	deleterious_low_confidence(0)				YES	C5orf30,missense_variant,p.Leu173Ile,ENST00000319933,NM_033211.2;C5orf30,missense_variant,p.Leu173Ile,ENST00000510890,;C5orf30,missense_variant,p.Leu173Ile,ENST00000515669,;							MODERATE	517/621	L173I	CE030_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000326110		CCDS4095.1			1	
CACNA1I	0	LGGM	GRCh37	22	40042633	40042633	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	10	4	.	.	ENST00000402142.3:c.1209G>C	p.Glu403Asp	p.E403D	ENST00000402142	NM_021096.3	403	gaG/gaC	0	1	1	UPI000012727D	0	NA	ENST00000402142		ENSG00000100346	1396		14	2.385		HGNC	p.E403D		CACNA1I		SNV							ENST00000407673	protein_coding	getma.org/?cm=var&var=hg19,22,40042633,G,C&fts=all		hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037,Superfamily_domains:SSF81324		E/D		C	medium	1209/10004		getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=398&re=597&var=E403D	deleterious(0)				YES	CACNA1I,missense_variant,p.Glu403Asp,ENST00000336649,;CACNA1I,missense_variant,p.Glu403Asp,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Glu403Asp,ENST00000400164,;CACNA1I,missense_variant,p.Glu403Asp,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Glu403Asp,ENST00000401624,;CACNA1I,missense_variant,p.Glu403Asp,ENST00000407673,;CACNA1I,downstream_gene_variant,,ENST00000471970,;							MODERATE	1209/6672	E403D	CAC1I_HUMAN			Transcript		benign(0.016)	.	ENSP00000385019		CCDS46710.1			1	
TRAM1L1	0	LGGM	GRCh37	4	118006445	118006445	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	45	4	.	.	ENST00000310754.4:c.105G>C	p.Leu35=	p.L35=	ENST00000310754	NM_152402.2	35	ctG/ctC	0	1	1	UPI000013F075	0		ENST00000310754		ENSG00000174599	28371		49			HGNC	p.L35L	rs775894757	TRAM1L1	0.000121	SNV							ENST00000310754	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12371:SF9,hmmpanther:PTHR12371,PIRSF_domain:PIRSF005449		L		G		292/2019							YES	TRAM1L1,synonymous_variant,p.=,ENST00000310754,NM_152402.2;							LOW	105/1110		TR1L1_HUMAN			Transcript			.	ENSP00000309402	1.65E-05	CCDS3707.1			1	
CLEC9A	0	LGGM	GRCh37	12	10206941	10206941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	15	5	.	.	ENST00000355819.1:c.163G>T	p.Gly55Cys	p.G55C	ENST00000355819	NM_207345.2	55	Ggc/Tgc	0	1	1	UPI00001D696C	0	NA	ENST00000355819		ENSG00000197992	26705		20	1.59		HGNC	p.G55C		CLEC9A		SNV							ENST00000355819	protein_coding	getma.org/?cm=var&var=hg19,12,10206941,G,T&fts=all		hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF11,Transmembrane_helices:TMhelix		G/C		T	low	776/1673		getma.org/?cm=msa&ty=f&p=CLC9A_HUMAN&rb=1&re=85&var=G55C	deleterious(0)				YES	CLEC9A,missense_variant,p.Gly55Cys,ENST00000355819,NM_207345.2;CLEC9A,downstream_gene_variant,,ENST00000544751,;							MODERATE	163/726	G55C	CLC9A_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000348074		CCDS8611.1			1	
AXIN1	0	LGGM	GRCh37	16	343720	343720	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	4	6	.	.	ENST00000262320.3:c.1956-2A>C		p.X652_splice	ENST00000262320	NM_003502.3			0	1	1	UPI000012669E	0		ENST00000262320		ENSG00000103126	903		10			HGNC	-		AXIN1		SNV			1				ENST00000262320	protein_coding							G		-/3643							YES	AXIN1,splice_acceptor_variant,,ENST00000262320,NM_003502.3;AXIN1,splice_acceptor_variant,,ENST00000354866,NM_181050.2;AXIN1,upstream_gene_variant,,ENST00000457798,;AXIN1,downstream_gene_variant,,ENST00000481769,;AXIN1,splice_acceptor_variant,,ENST00000461023,;							HIGH	1956/2589		AXIN1_HUMAN			Transcript			.	ENSP00000262320		CCDS10405.1			1	
PRDM15	0	LGGM	GRCh37	21	43282054	43282054	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	9	6	.	.	ENST00000269844.3:c.682G>T	p.Glu228Ter	p.E228*	ENST00000269844	NM_022115.3	228	Gag/Tag	0	1	1	UPI0000456FFA	0	NA	ENST00000269844		ENSG00000141956	13999		15	0		HGNC	p.E228X		PRDM15		SNV							ENST00000433067	protein_coding	getma.org/?cm=var&var=hg19,21,43282054,C,A&fts=all				E/*		A	NA	793/4710		NA					YES	PRDM15,stop_gained,p.Glu228Ter,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,stop_gained,p.Glu228Ter,ENST00000433067,;PRDM15,intron_variant,,ENST00000449395,;PRDM15,intron_variant,,ENST00000441787,;PRDM15,intron_variant,,ENST00000447016,;							HIGH	682/4524	E228*	PRD15_HUMAN			Transcript			.	ENSP00000269844		CCDS13676.1			1	
FZD10	0	LGGM	GRCh37	12	130648479	130648479	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	13	7	.	.	ENST00000229030.4:c.992C>T	p.Thr331Met	p.T331M	ENST00000229030		331	aCg/aTg	0	1	1	UPI000004EC92	0	NA	ENST00000229030		ENSG00000111432	4039		20	3.455		HGNC	p.T331M		FZD10		SNV							ENST00000229030	protein_coding	getma.org/?cm=var&var=hg19,12,130648479,C,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Pfam_domain:PF01534,Prints_domain:PR00489		T/M		T	medium	1476/3281		getma.org/?cm=msa&ty=f&p=FZD10_HUMAN&rb=217&re=541&var=T331M	deleterious(0)				YES	FZD10,missense_variant,p.Thr331Met,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,;							MODERATE	992/1746	T331M	FZD10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000229030		CCDS9267.1			1	
CCT3	0	LGGM	GRCh37	1	156280946	156280946	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	22	7	.	.	ENST00000295688.3:c.1196G>A	p.Arg399His	p.R399H	ENST00000295688	NM_005998.4	399	cGc/cAc	0	1	1	UPI000040EEFE	0	getma.org/pdb.php?prot=TCPG_HUMAN&from=33&to=527&var=R399H	ENST00000295688		ENSG00000163468	1616		29	3.885		HGNC	p.R354H	rs758436442	CCT3	6.08E-05	SNV							ENST00000368261	protein_coding	getma.org/?cm=var&var=hg19,1,156280946,C,T&fts=all		Gene3D:3.30.260.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF63,Superfamily_domains:SSF54849,TIGRFAM_domain:TIGR02344		R/H		T	high	1477/2150	1.51E-05	getma.org/?cm=msa&ty=f&p=TCPG_HUMAN&rb=33&re=527&var=R399H	deleterious(0)	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN			YES	CCT3,missense_variant,p.Arg399His,ENST00000295688,NM_005998.4;CCT3,missense_variant,p.Arg354His,ENST00000368261,;CCT3,missense_variant,p.Arg354His,ENST00000472765,;CCT3,missense_variant,p.Arg361His,ENST00000368259,NM_001008800.2;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;							MODERATE	1196/1638	R399H	TCPG_HUMAN			Transcript		benign(0.167)	.	ENSP00000295688	1.65E-05	CCDS1140.2			1	
GLTSCR2	0	LGGM	GRCh37	19	48254776	48254776	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	15	8	.	.	ENST00000246802.5:c.599-1G>A		p.X200_splice	ENST00000246802	NM_015710.4			0	1	1	UPI0000054111	0		ENST00000246802		ENSG00000105373	4333		23			HGNC	-		GLTSCR2		SNV							ENST00000246802	protein_coding							A		-/1528							YES	GLTSCR2,splice_acceptor_variant,,ENST00000246802,NM_015710.4;GLTSCR2,splice_acceptor_variant,,ENST00000595143,;GLTSCR2,splice_acceptor_variant,,ENST00000597985,;GLTSCR2,splice_acceptor_variant,,ENST00000598959,;GLTSCR2,upstream_gene_variant,,ENST00000594182,;SNORD23,upstream_gene_variant,,ENST00000408876,NR_003048.1;GLTSCR2,splice_acceptor_variant,,ENST00000598681,;GLTSCR2,splice_acceptor_variant,,ENST00000599582,;GLTSCR2,downstream_gene_variant,,ENST00000599253,;GLTSCR2,splice_acceptor_variant,,ENST00000600410,;GLTSCR2,splice_acceptor_variant,,ENST00000594525,;GLTSCR2,non_coding_transcript_exon_variant,,ENST00000600266,;							HIGH	599/1437		GSCR2_HUMAN			Transcript			.	ENSP00000246802		CCDS12705.1			1	
ALS2CR11	0	LGGM	GRCh37	2	202466587	202466587	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	15	8	.	.	ENST00000439140.1:c.391A>C	p.Asn131His	p.N131H	ENST00000439140	NM_001168221.1	131	Aat/Cat	0	1		UPI000013DE33	0	NA	ENST00000286195		ENSG00000155754	14438		23	1.67		HGNC	p.N131H		ALS2CR11		SNV							ENST00000439802	protein_coding	getma.org/?cm=var&var=hg19,2,202466587,T,G&fts=all		hmmpanther:PTHR21665,hmmpanther:PTHR21665:SF2,Superfamily_domains:SSF49562		N/H		G	low	436/2104		getma.org/?cm=msa&ty=f&p=AL2SA_HUMAN&rb=1&re=621&var=N131H	deleterious(0.01)					ALS2CR11,missense_variant,p.Asn131His,ENST00000439140,NM_001168221.1;ALS2CR11,missense_variant,p.Asn131His,ENST00000450242,NM_001168217.1;ALS2CR11,missense_variant,p.Asn131His,ENST00000286195,NM_152525.5;ALS2CR11,missense_variant,p.Asn131His,ENST00000439802,NM_001168216.1;							MODERATE	391/1872	N131H	AL2SA_HUMAN			Transcript		possibly_damaging(0.79)	.	ENSP00000286195		CCDS2349.1			1	
PSME4	0	LGGM	GRCh37	2	54159090	54159090	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	29	8	.	.	ENST00000404125.1:c.1198A>G	p.Ile400Val	p.I400V	ENST00000404125	NM_014614.2	400	Att/Gtt	0	1	1	UPI0000F3BE4A	0	NA	ENST00000404125		ENSG00000068878	20635		37	0.29		HGNC	p.I400V	rs572194286	PSME4		SNV				9.61E-05			ENST00000404125	protein_coding	getma.org/?cm=var&var=hg19,2,54159090,T,C&fts=all	C:0.0008	hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF0,Superfamily_domains:SSF48371		I/V		C	neutral	1254/7099		getma.org/?cm=msa&ty=f&p=PSME4_HUMAN&rb=201&re=400&var=I400V	tolerated(0.39)		C:0	C:0	YES	PSME4,missense_variant,p.Ile400Val,ENST00000404125,NM_014614.2;PSME4,intron_variant,,ENST00000421748,;PSME4,downstream_gene_variant,,ENST00000481518,;PSME4,missense_variant,p.Ile400Val,ENST00000389993,;PSME4,downstream_gene_variant,,ENST00000475694,;		C:0.0002					MODERATE	1198/5532	I400V	PSME4_HUMAN		C:0	Transcript		benign(0.003)	.	ENSP00000384211	8.24E-06	CCDS33197.2		C:0	1	
DMBT1	0	LGGM	GRCh37	10	124402902	124402902	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	21	9	.	.	ENST00000368909.3:c.7230G>A	p.Glu2410=	p.E2410=	ENST00000368909	NM_007329.2	2410	gaG/gaA	0	1		UPI000047021C	0		ENST00000338354		ENSG00000187908	2926		30			HGNC	p.E1782E		DMBT1		SNV			1				ENST00000339712	protein_coding					E		A		7336/7686				B6V682_HUMAN				DMBT1,synonymous_variant,p.=,ENST00000368909,NM_007329.2;DMBT1,synonymous_variant,p.=,ENST00000338354,;DMBT1,synonymous_variant,p.=,ENST00000368955,NM_017579.2;DMBT1,synonymous_variant,p.=,ENST00000344338,;DMBT1,synonymous_variant,p.=,ENST00000368956,NM_004406.2;DMBT1,synonymous_variant,p.=,ENST00000330163,;DMBT1,synonymous_variant,p.=,ENST00000359586,;							LOW	7230/7242		DMBT1_HUMAN			Transcript			.	ENSP00000342210					1	
SMAD7	0	LGGM	GRCh37	18	46448082	46448082	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	19	9	.	.	ENST00000262158.2:c.941G>A	p.Arg314Gln	p.R314Q	ENST00000262158	NM_001190821.1	314	cGg/cAg	0	1	1	UPI0000135A83	0	getma.org/pdb.php?prot=SMAD7_HUMAN&from=255&to=426&var=R314Q	ENST00000262158		ENSG00000101665	6773		28	2.875		HGNC	p.R313Q	rs766483132,COSM1303760	SMAD7		SNV			1			0,1	ENST00000589634	protein_coding	getma.org/?cm=var&var=hg19,18,46448082,C,T&fts=all		PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF27,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879		R/Q		T	medium	1228/3087		getma.org/?cm=msa&ty=f&p=SMAD7_HUMAN&rb=255&re=426&var=R314Q	deleterious(0)	K7EKF0_HUMAN			YES	SMAD7,missense_variant,p.Arg314Gln,ENST00000262158,NM_001190821.1,NM_005904.3;SMAD7,missense_variant,p.Arg313Gln,ENST00000589634,;SMAD7,missense_variant,p.Arg99Gln,ENST00000591805,NM_001190822.1;SMAD7,missense_variant,p.Arg99Gln,ENST00000586093,;SMAD7,non_coding_transcript_exon_variant,,ENST00000585986,;SMAD7,non_coding_transcript_exon_variant,,ENST00000587336,;SMAD7,non_coding_transcript_exon_variant,,ENST00000588190,;SMAD7,non_coding_transcript_exon_variant,,ENST00000545051,;					0,1		MODERATE	941/1281	R314Q	SMAD7_HUMAN	0.000151		Transcript		probably_damaging(0.999)	.	ENSP00000262158	8.24E-06	CCDS11936.1			1	
DENND2C	0	LGGM	GRCh37	1	115130486	115130486	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	29	9	.	.	ENST00000393274.1:c.2519C>T	p.Thr840Ile	p.T840I	ENST00000393274	NM_001256404.1	840	aCt/aTt	0	1	1	UPI000048AF71	0	NA	ENST00000393274		ENSG00000175984	24748		38	0		HGNC	p.T728I		DENND2C		SNV							ENST00000393277	protein_coding	getma.org/?cm=var&var=hg19,1,115130486,G,A&fts=all		Pfam_domain:PF03455,PROSITE_profiles:PS50947,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF6,SMART_domains:SM00801		T/I		A	neutral	3145/6163		getma.org/?cm=msa&ty=f&p=DEN2C_HUMAN&rb=814&re=881&var=T840I	deleterious(0.02)				YES	DENND2C,missense_variant,p.Thr840Ile,ENST00000393274,NM_001256404.1;DENND2C,missense_variant,p.Thr783Ile,ENST00000393276,NM_198459.3;DENND2C,missense_variant,p.Thr728Ile,ENST00000393277,;DENND2C,non_coding_transcript_exon_variant,,ENST00000481894,;DENND2C,non_coding_transcript_exon_variant,,ENST00000495031,;							MODERATE	2519/2787	T840I	DEN2C_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000376955		CCDS58018.1			1	
IL6ST	0	LGGM	GRCh37	5	55260061	55260075	+	inframe_deletion	In_Frame_Del	DEL	AATACACAGTAGAAT	AATACACAGTAGAAT	-	novel	by Submitter	H093134	H093134N.bam	AATACACAGTAGAAT	AATACACAGTAGAAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	25	10	.	.	ENST00000381298.2:c.557_571delATTCTACTGTGTATT	p.Tyr186_Tyr190del	p.Y186_Y190del	ENST00000381298	NM_175767.2	186	tATTCTACTGTGTATTtt/ttt	0	1		UPI000013CF29	0		ENST00000336909		ENSG00000134352	6021		35			HGNC	p.44_48del	COSM251361	IL6ST		deletion						1	ENST00000396816	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF09240,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF25,SMART_domains:SM00060,Superfamily_domains:SSF49265		YSTVYF/F		-		593-607/8750								IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000381298,NM_175767.2,NM_002184.3,NM_001190981.1;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000336909,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000381287,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000502326,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000381294,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000536319,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000522633,;IL6ST,inframe_deletion,p.Ile44_Ile48del,ENST00000396816,;IL6ST,intron_variant,,ENST00000381293,;IL6ST,intron_variant,,ENST00000381286,;IL6ST,non_coding_transcript_exon_variant,,ENST00000577363,;IL6ST,inframe_deletion,p.Tyr186_Tyr190del,ENST00000503773,;IL6ST,upstream_gene_variant,,ENST00000506241,;					1		MODERATE	557-571/2757		IL6RB_HUMAN			Transcript			.	ENSP00000338799		CCDS3971.1			1	
TMEM55B	0	LGGM	GRCh37	14	20927885	20927885	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	19	11	.	.	ENST00000398020.4:c.469A>G	p.Ile157Val	p.I157V	ENST00000398020	NM_144568.2	157	Atc/Gtc	0	1		UPI000000CC01	0	NA	ENST00000250489		ENSG00000165782	19299		30	0.64		HGNC	p.I157V		TMEM55B		SNV							ENST00000398020	protein_coding	getma.org/?cm=var&var=hg19,14,20927885,T,C&fts=all		hmmpanther:PTHR21014:SF3,hmmpanther:PTHR21014,Pfam_domain:PF09788		I/V		C	neutral	735/1961		getma.org/?cm=msa&ty=f&p=TM55B_HUMAN&rb=1&re=270&var=I150V	tolerated(0.13)	G3V5T5_HUMAN,G3V3P3_HUMAN				TMEM55B,missense_variant,p.Ile150Val,ENST00000250489,;TMEM55B,missense_variant,p.Ile157Val,ENST00000398020,NM_144568.2,NM_001100814.1;TMEM55B,5_prime_UTR_variant,,ENST00000554028,;OSGEP,upstream_gene_variant,,ENST00000206542,NM_017807.3;APEX1,downstream_gene_variant,,ENST00000216714,NM_001244249.1,NM_001641.3;APEX1,downstream_gene_variant,,ENST00000555414,NM_080649.2,NM_080648.2;APEX1,downstream_gene_variant,,ENST00000398030,;APEX1,downstream_gene_variant,,ENST00000555839,;APEX1,downstream_gene_variant,,ENST00000553681,;APEX1,downstream_gene_variant,,ENST00000557054,;TMEM55B,upstream_gene_variant,,ENST00000553460,;APEX1,downstream_gene_variant,,ENST00000556054,;APEX1,downstream_gene_variant,,ENST00000557150,;OSGEP,upstream_gene_variant,,ENST00000488532,;APEX1,downstream_gene_variant,,ENST00000557344,;APEX1,downstream_gene_variant,,ENST00000557592,;OSGEP,upstream_gene_variant,,ENST00000553640,;APEX1,downstream_gene_variant,,ENST00000557181,;APEX1,downstream_gene_variant,,ENST00000438886,;APEX1,downstream_gene_variant,,ENST00000553368,;TMEM55B,downstream_gene_variant,,ENST00000556093,;APEX1,downstream_gene_variant,,ENST00000557365,;OSGEP,upstream_gene_variant,,ENST00000556252,;OSGEP,upstream_gene_variant,,ENST00000554699,;APEX1,downstream_gene_variant,,ENST00000554813,;APEX1,downstream_gene_variant,,ENST00000556296,;TMEM55B,non_coding_transcript_exon_variant,,ENST00000557041,;APEX1,downstream_gene_variant,,ENST00000557159,;APEX1,downstream_gene_variant,,ENST00000553555,;OSGEP,upstream_gene_variant,,ENST00000556439,;APEX1,downstream_gene_variant,,ENST00000555306,;APEX1,downstream_gene_variant,,ENST00000554325,;TMEM55B,upstream_gene_variant,,ENST00000553602,;							MODERATE	448/834	I150V	TM55B_HUMAN			Transcript		benign(0.005)	.	ENSP00000250489		CCDS9551.1			1	
HHATL	0	LGGM	GRCh37	3	42734301	42734301	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	35	11	.	.	ENST00000441594.1:c.1457G>A	p.Arg486His	p.R486H	ENST00000441594	NM_020707.3	486	cGt/cAt	0	1		UPI000012DC51	0	NA	ENST00000310417		ENSG00000010282	13242	0.000173	46	1.59		HGNC	p.R486H	rs539401061,COSM1291707	HHATL	0.000121	SNV				0.000192		0,1	ENST00000441594	protein_coding	getma.org/?cm=var&var=hg19,3,42734301,C,T&fts=all	T:0.0008	hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF19		R/H		T	low	1604/1750		getma.org/?cm=msa&ty=f&p=HHATL_HUMAN&rb=451&re=504&var=R486H	tolerated(0.08)	C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN	T:0	T:0		HHATL,missense_variant,p.Arg486His,ENST00000441594,NM_020707.3;HHATL,missense_variant,p.Arg486His,ENST00000310417,;HHATL,missense_variant,p.Arg106His,ENST00000426666,;KLHL40,downstream_gene_variant,,ENST00000287777,NM_152393.3;HHATL,downstream_gene_variant,,ENST00000457462,;CCDC13,non_coding_transcript_exon_variant,,ENST00000479631,;HHATL,non_coding_transcript_exon_variant,,ENST00000466007,;HHATL,non_coding_transcript_exon_variant,,ENST00000490003,;HHATL,downstream_gene_variant,,ENST00000480939,;		T:0.0002			0,1		MODERATE	1457/1515	R486H	HHATL_HUMAN		T:0	Transcript		benign(0.025)	.	ENSP00000310621	4.94E-05	CCDS2704.1		T:0	1	
TMEM81	0	LGGM	GRCh37	1	205052699	205052699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	41	11	.	.	ENST00000367167.3:c.750G>T	p.Arg250Ser	p.R250S	ENST00000367167	NM_203376.1	250	agG/agT	0	1	1	UPI0000199A1E	0	NA	ENST00000367167		ENSG00000174529	32349		52	0		HGNC	p.R250S	rs751091550	TMEM81		SNV							ENST00000367167	protein_coding	getma.org/?cm=var&var=hg19,1,205052699,C,A&fts=all				R/S		A	neutral	947/1388	3.04E-05	getma.org/?cm=msa&ty=f&p=TMM81_HUMAN&rb=1&re=254&var=R250S	tolerated(0.18)				YES	TMEM81,missense_variant,p.Arg250Ser,ENST00000367167,NM_203376.1;RBBP5,downstream_gene_variant,,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,downstream_gene_variant,,ENST00000367164,NM_001193272.1;	0.000463						MODERATE	750/768	R250S	TMM81_HUMAN			Transcript		benign(0.402)	common_variant	ENSP00000356135	4.94E-05	CCDS1450.1			1	
VCAN	0	LGGM	GRCh37	5	82835276	82835276	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	22	12	.	.	ENST00000265077.3:c.6454A>C	p.Thr2152Pro	p.T2152P	ENST00000265077	NM_004385.4	2152	Acc/Ccc	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		34	1.905		HGNC	p.T1165P		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82835276,A,C&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		T/P		C	medium	7019/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2081&re=2216&var=T2152P	tolerated(0.07)				YES	VCAN,missense_variant,p.Thr2152Pro,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Thr1165Pro,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Thr1165Pro,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	6454/10191	T2152P	CSPG2_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000265077		CCDS4060.1			1	
SLC9A3R1	0	LGGM	GRCh37	17	72764785	72764785	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	15	12	.	.	ENST00000262613.5:c.1067G>A	p.Ser356Asn	p.S356N	ENST00000262613	NM_004252.4	356	aGc/aAc	0	1	1	UPI0000072521	0	getma.org/pdb.php?prot=NHRF1_HUMAN&from=318&to=358&var=S356N	ENST00000262613		ENSG00000109062	11075		27	2.015		HGNC	p.S200N		SLC9A3R1		SNV			1				ENST00000413388	protein_coding	getma.org/?cm=var&var=hg19,17,72764785,G,A&fts=all		PIRSF_domain:PIRSF037866,Pfam_domain:PF09007,hmmpanther:PTHR14191:SF7,hmmpanther:PTHR14191		S/N		A	medium	1262/1969		getma.org/?cm=msa&ty=f&p=NHRF1_HUMAN&rb=318&re=358&var=S356N	deleterious(0)	B3KY21_HUMAN			YES	SLC9A3R1,missense_variant,p.Ser356Asn,ENST00000262613,NM_004252.4;SLC9A3R1,missense_variant,p.Ser200Asn,ENST00000413388,;NAT9,downstream_gene_variant,,ENST00000357814,NM_015654.3;NAT9,downstream_gene_variant,,ENST00000580301,;NAT9,downstream_gene_variant,,ENST00000581136,;NAT9,downstream_gene_variant,,ENST00000582870,;SLC9A3R1,downstream_gene_variant,,ENST00000583369,;NAT9,downstream_gene_variant,,ENST00000578822,;NAT9,downstream_gene_variant,,ENST00000580632,;NAT9,downstream_gene_variant,,ENST00000581451,;NAT9,downstream_gene_variant,,ENST00000583476,;NAT9,downstream_gene_variant,,ENST00000579218,;NAT9,downstream_gene_variant,,ENST00000583757,;NAT9,downstream_gene_variant,,ENST00000582524,;NAT9,downstream_gene_variant,,ENST00000581466,;NAT9,downstream_gene_variant,,ENST00000578947,;NAT9,downstream_gene_variant,,ENST00000580216,;NAT9,downstream_gene_variant,,ENST00000577428,;NAT9,downstream_gene_variant,,ENST00000585240,;NAT9,downstream_gene_variant,,ENST00000584409,;NAT9,downstream_gene_variant,,ENST00000583989,;SLC9A3R1,3_prime_UTR_variant,,ENST00000581356,;NAT9,downstream_gene_variant,,ENST00000583834,;NAT9,downstream_gene_variant,,ENST00000584022,;NAT9,downstream_gene_variant,,ENST00000582168,;NAT9,downstream_gene_variant,,ENST00000581762,;SLC9A3R1,downstream_gene_variant,,ENST00000578958,;NAT9,downstream_gene_variant,,ENST00000578798,;NAT9,downstream_gene_variant,,ENST00000582359,;NAT9,downstream_gene_variant,,ENST00000582993,;NAT9,downstream_gene_variant,,ENST00000583689,;NAT9,downstream_gene_variant,,ENST00000582118,;NAT9,downstream_gene_variant,,ENST00000578862,;							MODERATE	1067/1077	S356N	NHRF1_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000262613		CCDS11705.1			1	
C3	0	LGGM	GRCh37	19	6697569	6697569	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	17	13	.	.	ENST00000245907.6:c.2584-2A>G		p.X862_splice	ENST00000245907	NM_000064.2			0	1	1	UPI000013EC9B	0		ENST00000245907		ENSG00000125730	1318		30			HGNC	-		C3		SNV			1				ENST00000245907	protein_coding							C		-/5263				Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	C3,splice_acceptor_variant,,ENST00000245907,NM_000064.2;C3,non_coding_transcript_exon_variant,,ENST00000594005,;C3,upstream_gene_variant,,ENST00000598805,;C3,downstream_gene_variant,,ENST00000602053,;							HIGH	2584/4992		CO3_HUMAN			Transcript			.	ENSP00000245907		CCDS32883.1			1	
TIE1	0	LGGM	GRCh37	1	43772593	43772593	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	38	13	.	.	ENST00000372476.3:c.567G>T	p.Ser189=	p.S189=	ENST00000372476	NM_005424.4	189	tcG/tcT	0	1	1	UPI0000032E59	0		ENST00000372476		ENSG00000066056	11809		51			HGNC	p.S189S		TIE1		SNV							ENST00000372476	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF40,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		T		646/3882				Q9HBS4_HUMAN,Q6LD63_HUMAN,E9PG63_HUMAN			YES	TIE1,synonymous_variant,p.=,ENST00000372476,NM_005424.4,NM_001253357.1;TIE1,synonymous_variant,p.=,ENST00000538015,;TIE1,synonymous_variant,p.=,ENST00000441333,;TIE1,upstream_gene_variant,,ENST00000433781,;TIE1,upstream_gene_variant,,ENST00000488437,;TIE1,downstream_gene_variant,,ENST00000485125,;TIE1,upstream_gene_variant,,ENST00000480269,;							LOW	567/3417		TIE1_HUMAN			Transcript			.	ENSP00000361554		CCDS482.1			1	
KBTBD7	0	LGGM	GRCh37	13	41767007	41767007	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	12	13	.	.	ENST00000379483.3:c.1387C>T	p.Gln463Ter	p.Q463*	ENST00000379483	NM_032138.4	463	Cag/Tag	0	1	1	UPI0000071F8F	0	NA	ENST00000379483		ENSG00000120696	25266		25	0		HGNC	p.Q463X		KBTBD7		SNV							ENST00000379483	protein_coding	getma.org/?cm=var&var=hg19,13,41767007,G,A&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF132,SMART_domains:SM00612		Q/*		A	NA	1696/4734		NA		B4DS80_HUMAN			YES	KBTBD7,stop_gained,p.Gln463Ter,ENST00000379483,NM_032138.4;							HIGH	1387/2055	Q463*	KBTB7_HUMAN			Transcript			.	ENSP00000368797		CCDS9377.1			1	
GRIA4	0	LGGM	GRCh37	11	105795478	105795478	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	23	13	.	.	ENST00000282499.5:c.1830A>T	p.Gly610=	p.G610=	ENST00000282499	NM_000829.3	610	ggA/ggT	0	1	1	UPI000013DCE6	0		ENST00000282499		ENSG00000152578	4574		36			HGNC	p.G610G		GRIA4		SNV							ENST00000282499	protein_coding			hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324		G		T		2276/5508				E9PJZ5_HUMAN			YES	GRIA4,synonymous_variant,p.=,ENST00000393127,NM_001077243.2;GRIA4,synonymous_variant,p.=,ENST00000282499,NM_000829.3;GRIA4,synonymous_variant,p.=,ENST00000530497,;GRIA4,synonymous_variant,p.=,ENST00000525187,;							LOW	1830/2709		GRIA4_HUMAN			Transcript			.	ENSP00000282499		CCDS8333.1			1	
ZMYM4	0	LGGM	GRCh37	1	35824561	35824561	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	25	13	.	.	ENST00000314607.6:c.121A>G	p.Ile41Val	p.I41V	ENST00000314607	NM_005095.2	41	Ata/Gta	0	1	1	UPI0000203EE6	0	NA	ENST00000314607		ENSG00000146463	13055		38	0		HGNC	p.I41V		ZMYM4		SNV							ENST00000373297	protein_coding	getma.org/?cm=var&var=hg19,1,35824561,A,G&fts=all				I/V		G	neutral	201/6994		getma.org/?cm=msa&ty=f&p=ZMYM4_HUMAN&rb=1&re=200&var=I41V	tolerated_low_confidence(0.75)				YES	ZMYM4,missense_variant,p.Ile41Val,ENST00000314607,NM_005095.2;ZMYM4,missense_variant,p.Ile41Val,ENST00000373297,;ZMYM4,missense_variant,p.Ile9Val,ENST00000441447,;ZMYM4,upstream_gene_variant,,ENST00000457946,;ZMYM4-AS1,non_coding_transcript_exon_variant,,ENST00000432683,;ZMYM4,upstream_gene_variant,,ENST00000482131,;							MODERATE	121/4647	I41V	ZMYM4_HUMAN			Transcript		benign(0.007)	.	ENSP00000322915		CCDS389.1			1	
SPPL2A	0	LGGM	GRCh37	15	51012277	51012277	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	21	14	.	.	ENST00000261854.5:c.1348C>T	p.Leu450Phe	p.L450F	ENST00000261854	NM_032802.3	450	Ctt/Ttt	0	1	1	UPI0000013591	0	NA	ENST00000261854		ENSG00000138600	30227		35	1.05		HGNC	p.L450F		SPPL2A		SNV							ENST00000261854	protein_coding	getma.org/?cm=var&var=hg19,15,51012277,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12174:SF34,hmmpanther:PTHR12174,Pfam_domain:PF04258,SMART_domains:SM00730		L/F		A	low	1623/2329		getma.org/?cm=msa&ty=f&p=SPP2A_HUMAN&rb=401&re=520&var=L450F	deleterious(0.03)	H0YNA7_HUMAN			YES	SPPL2A,missense_variant,p.Leu450Phe,ENST00000261854,NM_032802.3;SPPL2A,missense_variant,p.Leu286Phe,ENST00000558934,;SPPL2A,downstream_gene_variant,,ENST00000559293,;SPPL2A,downstream_gene_variant,,ENST00000558146,;							MODERATE	1348/1563	L450F	SPP2A_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000261854		CCDS10138.1			1	
CHD6	0	LGGM	GRCh37	20	40122264	40122264	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	32	15	.	.	ENST00000373233.3:c.1228A>G	p.Ser410Gly	p.S410G	ENST00000373233	NM_032221.4	410	Agc/Ggc	0	1	1	UPI0000168656	0	getma.org/pdb.php?prot=CHD6_HUMAN&from=375&to=429&var=S410G	ENST00000373233		ENSG00000124177	19057		47	2.905		HGNC	p.S410G		CHD6		SNV							ENST00000309279	protein_coding	getma.org/?cm=var&var=hg19,20,40122264,T,C&fts=all		PROSITE_profiles:PS50013,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589,Gene3D:2.40.50.40,Pfam_domain:PF00385,SMART_domains:SM00298,Superfamily_domains:SSF54160		S/G		C	medium	1406/10818		getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=375&re=429&var=S410G	deleterious(0.01)				YES	CHD6,missense_variant,p.Ser410Gly,ENST00000373233,NM_032221.4;CHD6,missense_variant,p.Ser410Gly,ENST00000309279,;CHD6,missense_variant,p.Ser113Gly,ENST00000440697,;CHD6,downstream_gene_variant,,ENST00000373222,;CHD6,downstream_gene_variant,,ENST00000470470,;							MODERATE	1228/8148	S410G	CHD6_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000362330		CCDS13317.1			1	
MYO6	0	LGGM	GRCh37	6	76596568	76596568	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	33	17	.	.	ENST00000369977.3:c.2515G>A	p.Gly839Ser	p.G839S	ENST00000369977	NM_004999.3	839	Ggt/Agt	0	1	1	UPI00000727CF	0	getma.org/pdb.php?prot=MYO6_HUMAN&from=760&to=850&var=G839S	ENST00000369977		ENSG00000196586	7605		50	1.93		HGNC	p.G839S		MYO6		SNV			1				ENST00000369981	protein_coding	getma.org/?cm=var&var=hg19,6,76596568,G,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF346		G/S		A	medium	2654/5597		getma.org/?cm=msa&ty=f&p=MYO6_HUMAN&rb=760&re=850&var=G839S	tolerated(0.31)	Q14784_HUMAN			YES	MYO6,missense_variant,p.Gly839Ser,ENST00000369981,;MYO6,missense_variant,p.Gly839Ser,ENST00000369985,;MYO6,missense_variant,p.Gly839Ser,ENST00000369977,NM_004999.3;MYO6,missense_variant,p.Gly839Ser,ENST00000369975,;MYO6,upstream_gene_variant,,ENST00000430435,;							MODERATE	2515/3858	G839S	MYO6_HUMAN			Transcript		unknown(0)	.	ENSP00000358994		CCDS34487.1			1	
C1R	0	LGGM	GRCh37	12	7244183	7244183	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	35	17	.	.	ENST00000542285.1:c.93T>A	p.Pro31=	p.P31=	ENST00000542285		31	ccT/ccA	0	1	1	UPI00020653A8	0		ENST00000542285		ENSG00000159403	1246		52			HGNC	p.P46P		C1R		SNV			1				ENST00000290575	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF78,SMART_domains:SM00042,Superfamily_domains:SSF49854		P		T		243/2112				H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN			YES	C1R,synonymous_variant,p.=,ENST00000542285,;C1R,synonymous_variant,p.=,ENST00000542220,NM_001733.4;C1R,synonymous_variant,p.=,ENST00000536053,;C1R,synonymous_variant,p.=,ENST00000535233,;C1R,synonymous_variant,p.=,ENST00000540242,;C1R,synonymous_variant,p.=,ENST00000543835,;C1R,5_prime_UTR_variant,,ENST00000541042,;C1R,5_prime_UTR_variant,,ENST00000538050,;C1R,intron_variant,,ENST00000540610,;C1RL,downstream_gene_variant,,ENST00000266542,NM_016546.2;C1RL,downstream_gene_variant,,ENST00000544702,;C1RL,downstream_gene_variant,,ENST00000545280,;C1R,upstream_gene_variant,,ENST00000602298,;C1RL,downstream_gene_variant,,ENST00000504702,;C1R,synonymous_variant,p.=,ENST00000543362,;C1RL,3_prime_UTR_variant,,ENST00000539803,;C1R,non_coding_transcript_exon_variant,,ENST00000540394,;C1R,non_coding_transcript_exon_variant,,ENST00000536092,;C1R,non_coding_transcript_exon_variant,,ENST00000545466,;C1R,upstream_gene_variant,,ENST00000543851,;							LOW	93/1962					Transcript			.	ENSP00000438615					1	
AASS	0	LGGM	GRCh37	7	121758414	121758414	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	56	17	.	.	ENST00000393376.1:c.634A>T	p.Lys212Ter	p.K212*	ENST00000393376		212	Aag/Tag	0	1	1	UPI000004A105	0	NA	ENST00000393376		ENSG00000008311	17366		73	0		HGNC	p.K212X		AASS		SNV			1				ENST00000431170	protein_coding	getma.org/?cm=var&var=hg19,7,121758414,T,A&fts=all		Gene3D:3.40.50.1770,Pfam_domain:PF01262,hmmpanther:PTHR11133,hmmpanther:PTHR11133:SF11,SMART_domains:SM01002,Superfamily_domains:SSF52283		K/*		A	NA	730/3233		NA		A4D0W4_HUMAN			YES	AASS,stop_gained,p.Lys212Ter,ENST00000393376,;AASS,stop_gained,p.Lys212Ter,ENST00000417368,NM_005763.3;AASS,intron_variant,,ENST00000473553,;AASS,stop_gained,p.Lys212Ter,ENST00000358954,;AASS,stop_gained,p.Lys212Ter,ENST00000431170,;							HIGH	634/2781	K212*	AASS_HUMAN			Transcript			.	ENSP00000377040		CCDS5783.1			1	
ROBO3	0	LGGM	GRCh37	11	124739921	124739921	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	52	18	.	.	ENST00000397801.1:c.723G>T	p.Met241Ile	p.M241I	ENST00000397801	NM_022370.3	241	atG/atT	0	1	1	UPI000035AA82	0	getma.org/pdb.php?prot=ROBO3_HUMAN&from=166&to=254&var=M241I	ENST00000397801		ENSG00000154134	13433		70	-0.12		HGNC	p.M219I		ROBO3		SNV			1				ENST00000538940	protein_coding	getma.org/?cm=var&var=hg19,11,124739921,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		M/I		T	neutral	915/4569		getma.org/?cm=msa&ty=f&p=ROBO3_HUMAN&rb=166&re=254&var=M241I	deleterious(0.01)	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN			YES	ROBO3,missense_variant,p.Met241Ile,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Met219Ile,ENST00000538940,;							MODERATE	723/4161	M241I	ROBO3_HUMAN			Transcript		benign(0.194)	.	ENSP00000380903		CCDS44755.1			1	
OR4M2	0	LGGM	GRCh37	15	22369325	22369325	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	78	19	.	.	ENST00000332663.2:c.750G>A	p.Val250=	p.V250=	ENST00000332663	NM_001004719.2	250	gtG/gtA	0	1	1	UPI0000046191	0		ENST00000332663		ENSG00000182974	15373		97			HGNC	p.V250V		OR4M2		SNV							ENST00000332663	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		V		A		848/1084							YES	OR4M2,synonymous_variant,p.=,ENST00000332663,NM_001004719.2;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000560969,;							LOW	750/942		OR4M2_HUMAN			Transcript			.	ENSP00000329467		CCDS32172.1			1	
HMCN1	0	LGGM	GRCh37	1	186158936	186158936	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	29	19	.	.	ENST00000271588.4:c.16834T>C	p.Tyr5612His	p.Y5612H	ENST00000271588	NM_031935.2	5612	Tac/Cac	0	1	1	UPI0000458C0E	0	NA	ENST00000271588		ENSG00000143341	19194		48	1.78		HGNC	p.Y5495H		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186158936,T,C&fts=all		hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158		Y/H		C	low	17063/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=5553&re=5633&var=Y5612H					YES	HMCN1,missense_variant,p.Tyr5612His,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Tyr5495His,ENST00000367492,;HMCN1,downstream_gene_variant,,ENST00000414277,;							MODERATE	16834/16908	Y5612H	HMCN1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000271588		CCDS30956.1			1	
FAM219A	0	LGGM	GRCh37	9	34402757	34402757	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	26	19	.	.	ENST00000445726.1:c.209T>A	p.Met70Lys	p.M70K	ENST00000445726	NM_001184940.1	70	aTg/aAg	0	1	1	UPI00005A2439	0	NA	ENST00000445726		ENSG00000164970	19920		45	1.87		HGNC	p.M69K		FAM219A		SNV							ENST00000422409	protein_coding	getma.org/?cm=var&var=hg19,9,34402757,A,T&fts=all		hmmpanther:PTHR31281:SF0,hmmpanther:PTHR31281,Pfam_domain:PF15260		M/K		T	low	516/3644		getma.org/?cm=msa&ty=f&p=F219A_HUMAN&rb=1&re=185&var=M70K	tolerated(0.11)	Q5T593_HUMAN			YES	FAM219A,missense_variant,p.Met70Lys,ENST00000445726,NM_001184940.1,NM_001184941.1;FAM219A,missense_variant,p.Met69Lys,ENST00000379089,;FAM219A,missense_variant,p.Met58Lys,ENST00000379080,NM_001184942.1;FAM219A,missense_variant,p.Met53Lys,ENST00000297620,NM_001184943.1,NM_147202.1;FAM219A,missense_variant,p.Met52Lys,ENST00000379087,;FAM219A,missense_variant,p.Met41Lys,ENST00000379081,NM_001184945.1;FAM219A,missense_variant,p.Met52Lys,ENST00000379084,;FAM219A,missense_variant,p.Met69Lys,ENST00000422409,;FAM219A,missense_variant,p.Met69Lys,ENST00000379078,;C9orf24,upstream_gene_variant,,ENST00000297623,NM_032596.3;							MODERATE	209/558	M70K	F219A_HUMAN			Transcript		benign(0.139)	.	ENSP00000392452		CCDS55304.1			1	
BLTP1	0	LGGM	GRCh37	4	123230604	123230604	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	48	19	.	.	ENST00000264501.4:c.10237T>G	p.Leu3413Val	p.L3413V	ENST00000264501		3413	Tta/Gta	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		67	0.2		HGNC	p.L3413V		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123230604,T,G&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		L/V		G	neutral	10610/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=3289&re=3488&var=L3413V		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Leu3413Val,ENST00000264501,;KIAA1109,missense_variant,p.Leu3413Val,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Leu3413Val,ENST00000455637,;KIAA1109,missense_variant,p.Leu29Val,ENST00000438707,;KIAA1109,missense_variant,p.Leu1371Val,ENST00000419325,;KIAA1109,missense_variant,p.Leu62Val,ENST00000421930,;							MODERATE	10237/15018	L3413V	K1109_HUMAN			Transcript		benign(0.101)	.	ENSP00000264501		CCDS43267.1			1	
FAM219A	0	LGGM	GRCh37	9	34402745	34402745	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	26	19	.	.	ENST00000445726.1:c.221T>C	p.Val74Ala	p.V74A	ENST00000445726	NM_001184940.1	74	gTc/gCc	0	1	1	UPI00005A2439	0	NA	ENST00000445726		ENSG00000164970	19920		45	2.38		HGNC	p.V73A		FAM219A		SNV							ENST00000422409	protein_coding	getma.org/?cm=var&var=hg19,9,34402745,A,G&fts=all		hmmpanther:PTHR31281:SF0,hmmpanther:PTHR31281,Pfam_domain:PF15260		V/A		G	medium	528/3644		getma.org/?cm=msa&ty=f&p=F219A_HUMAN&rb=1&re=185&var=V74A	tolerated(0.38)	Q5T593_HUMAN			YES	FAM219A,missense_variant,p.Val74Ala,ENST00000445726,NM_001184940.1,NM_001184941.1;FAM219A,missense_variant,p.Val73Ala,ENST00000379089,;FAM219A,missense_variant,p.Val62Ala,ENST00000379080,NM_001184942.1;FAM219A,missense_variant,p.Val57Ala,ENST00000297620,NM_001184943.1,NM_147202.1;FAM219A,missense_variant,p.Val56Ala,ENST00000379087,;FAM219A,missense_variant,p.Val45Ala,ENST00000379081,NM_001184945.1;FAM219A,missense_variant,p.Val56Ala,ENST00000379084,;FAM219A,missense_variant,p.Val73Ala,ENST00000422409,;FAM219A,missense_variant,p.Val73Ala,ENST00000379078,;C9orf24,upstream_gene_variant,,ENST00000297623,NM_032596.3;							MODERATE	221/558	V74A	F219A_HUMAN			Transcript		possibly_damaging(0.482)	.	ENSP00000392452		CCDS55304.1			1	
ITGA6	0	LGGM	GRCh37	2	173352693	173352693	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	39	20	.	.	ENST00000409080.1:c.2329A>G	p.Ser777Gly	p.S777G	ENST00000409080	NM_001079818.1	777	Agc/Ggc	0	1		UPI000013D4BA	0	getma.org/pdb.php?prot=ITA6_HUMAN&from=503&to=978&var=S816G	ENST00000442250		ENSG00000091409	6142		59	2.75		HGNC	p.S658G		ITGA6		SNV			1				ENST00000409532	protein_coding	getma.org/?cm=var&var=hg19,2,173352693,A,G&fts=all		hmmpanther:PTHR23220:SF9,hmmpanther:PTHR23220,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179		S/G		G	medium	2446/3390		getma.org/?cm=msa&ty=f&p=ITA6_HUMAN&rb=503&re=978&var=S816G	deleterious(0)					ITGA6,missense_variant,p.Ser816Gly,ENST00000375221,;ITGA6,missense_variant,p.Ser816Gly,ENST00000264106,;ITGA6,missense_variant,p.Ser772Gly,ENST00000343713,;ITGA6,missense_variant,p.Ser777Gly,ENST00000264107,NM_000210.2;ITGA6,missense_variant,p.Ser777Gly,ENST00000409080,NM_001079818.1;ITGA6,missense_variant,p.Ser658Gly,ENST00000409532,;ITGA6,missense_variant,p.Ser816Gly,ENST00000442250,;ITGA6,missense_variant,p.Ser772Gly,ENST00000458358,;ITGA6,missense_variant,p.Ser2Gly,ENST00000416789,;AC093818.1,intron_variant,,ENST00000442417,;ITGA6,upstream_gene_variant,,ENST00000469534,;ITGA6,upstream_gene_variant,,ENST00000475302,;ITGA6,upstream_gene_variant,,ENST00000470259,;							MODERATE	2446/3390	S816G	ITA6_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000406694					1	
MTNR1B	0	LGGM	GRCh37	11	92715125	92715125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	42	21	.	.	ENST00000257068.2:c.736G>A	p.Asp246Asn	p.D246N	ENST00000257068	NM_005959.3	246	Gac/Aac	0	1	1	UPI0000050408	0	getma.org/pdb.php?prot=MTR1B_HUMAN&from=57&to=308&var=D246N	ENST00000257068		ENSG00000134640	7464		63	1.595		HGNC	p.D246N	rs565670988	MTNR1B		SNV							ENST00000257068	protein_coding	getma.org/?cm=var&var=hg19,11,92715125,G,A&fts=all	A:0	Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00857,Prints_domain:PR01149,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Superfamily_domains:SSF81321		D/N		A	low	742/1565		getma.org/?cm=msa&ty=f&p=MTR1B_HUMAN&rb=57&re=308&var=D246N	tolerated(0.11)	Q8TEV7_HUMAN	A:0	A:0.002	YES	MTNR1B,missense_variant,p.Asp246Asn,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;		A:0.0004					MODERATE	736/1089	D246N	MTR1B_HUMAN		A:0	Transcript		benign(0.072)	.	ENSP00000257068		CCDS8290.1		A:0	1	
CHRNA5	0	LGGM	GRCh37	15	78882508	78882508	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	50	21	.	.	ENST00000299565.5:c.775A>T	p.Ile259Leu	p.I259L	ENST00000299565	NM_000745.3	259	Ata/Tta	0	1	1	UPI0000001638	0	getma.org/pdb.php?prot=ACHA5_HUMAN&from=257&to=384&var=I259L	ENST00000299565		ENSG00000169684	1959		71	1.015		HGNC	p.I259L		CHRNA5		SNV			1				ENST00000299565	protein_coding	getma.org/?cm=var&var=hg19,15,78882508,A,T&fts=all		Gene3D:1.20.120.370,Pfam_domain:PF02932,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF76,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		I/L		T	low	975/3623		getma.org/?cm=msa&ty=f&p=ACHA5_HUMAN&rb=257&re=384&var=I259L	deleterious(0.04)	Q6EWN4_HUMAN			YES	CHRNA5,missense_variant,p.Ile259Leu,ENST00000299565,NM_000745.3;CHRNA5,intron_variant,,ENST00000559554,;CHRNA5,intron_variant,,ENST00000394802,;CHRNA3,downstream_gene_variant,,ENST00000348639,NM_001166694.1;CHRNA5,upstream_gene_variant,,ENST00000559576,;RP11-650L12.2,non_coding_transcript_exon_variant,,ENST00000567141,;CHRNA3,downstream_gene_variant,,ENST00000559002,;CHRNA3,downstream_gene_variant,,ENST00000559658,;							MODERATE	775/1407	I259L	ACHA5_HUMAN			Transcript		benign(0.255)	.	ENSP00000299565		CCDS10304.1			1	
ZNF788	0	LGGM	GRCh37	19	12224156	12224156	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	41	22	.	.	ENST00000339302.4:c.1794C>A	p.Ser598=	p.S598=	ENST00000339302		598	tcC/tcA	0	1	1	UPI000041AACA	0		ENST00000339302		ENSG00000188474	33112		63			Uniprot_gn	p.S189S		ZNF788		SNV							ENST00000397759	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50157,hmmpanther:PTHR24409:SF13,hmmpanther:PTHR24409,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		A		2431/3766							YES	ZNF788,synonymous_variant,p.=,ENST00000339302,;ZNF788,synonymous_variant,p.=,ENST00000397759,;ZNF788,3_prime_UTR_variant,,ENST00000430298,;ZNF20,intron_variant,,ENST00000600335,;ZNF788,downstream_gene_variant,,ENST00000596883,;ZNF788,intron_variant,,ENST00000601686,;							LOW	1794/1848		ZN788_HUMAN			Transcript			.	ENSP00000342021					1	
ERLEC1	0	LGGM	GRCh37	2	54045059	54045059	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	29	22	.	.	ENST00000185150.4:c.1405A>T	p.Ile469Phe	p.I469F	ENST00000185150	NM_015701.4	469	Atc/Ttc	0	1	1	UPI00000373C1	0		ENST00000185150		ENSG00000068912	25222		51			HGNC	p.I443F		ERLEC1		SNV							ENST00000405123	protein_coding			hmmpanther:PTHR15414,hmmpanther:PTHR15414:SF0		I/F		T		1536/2433			deleterious(0)				YES	ERLEC1,missense_variant,p.Ile469Phe,ENST00000185150,NM_015701.4;ERLEC1,missense_variant,p.Ile415Phe,ENST00000378239,NM_001127398.2;ERLEC1,missense_variant,p.Ile443Phe,ENST00000405123,NM_001127397.2;ASB3,intron_variant,,ENST00000406625,;GPR75-ASB3,intron_variant,,ENST00000352846,NM_001164165.1;ASB3,intron_variant,,ENST00000498475,;ASB3,intron_variant,,ENST00000459916,;							MODERATE	1405/1452		ERLEC_HUMAN			Transcript		benign(0.119)	.	ENSP00000185150		CCDS1848.1			1	
SARS	0	LGGM	GRCh37	1	109771028	109771028	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	40	23	.	.	ENST00000234677.2:c.262G>C	p.Asp88His	p.D88H	ENST00000234677	NM_006513.3	88	Gat/Cat	0	1	1	UPI000013C9B6	0	getma.org/pdb.php?prot=SYSC_HUMAN&from=2&to=111&var=D88H	ENST00000234677		ENSG00000031698	10537		63	0.55		HGNC	p.D88H		SARS		SNV							ENST00000234677	protein_coding	getma.org/?cm=var&var=hg19,1,109771028,G,C&fts=all		Pfam_domain:PF02403,PIRSF_domain:PIRSF001529,hmmpanther:PTHR11778,hmmpanther:PTHR11778:SF0,TIGRFAM_domain:TIGR00414		D/H		C	neutral	337/1852		getma.org/?cm=msa&ty=f&p=SYSC_HUMAN&rb=2&re=111&var=D88H	tolerated(0.06)	Q0VGA5_HUMAN			YES	SARS,missense_variant,p.Asp88His,ENST00000369923,;SARS,missense_variant,p.Asp88His,ENST00000234677,NM_006513.3;SARS,non_coding_transcript_exon_variant,,ENST00000477544,;SARS,upstream_gene_variant,,ENST00000471705,;							MODERATE	262/1545	D88H	SYSC_HUMAN			Transcript		benign(0.06)	.	ENSP00000234677		CCDS795.1			1	
LARP1	0	LGGM	GRCh37	5	154179177	154179177	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	38	23	.	.	ENST00000336314.4:c.1173G>T	p.Glu391Asp	p.E391D	ENST00000336314	NM_015315.4	391	gaG/gaT	0	1	1	UPI00001DFE1B	0	getma.org/pdb.php?prot=LARP1_HUMAN&from=397&to=487&var=E468D	ENST00000336314		ENSG00000155506	29531		61	1.71		HGNC	p.E263D		LARP1		SNV							ENST00000524248	protein_coding	getma.org/?cm=var&var=hg19,5,154179177,G,T&fts=all		Gene3D:1.10.10.10,PROSITE_profiles:PS50961,hmmpanther:PTHR22792,hmmpanther:PTHR22792:SF51,SMART_domains:SM00715,Superfamily_domains:SSF46785		E/D		T	low	1197/6595		getma.org/?cm=msa&ty=f&p=LARP1_HUMAN&rb=397&re=487&var=E468D	tolerated(0.07)	E5RHK4_HUMAN,E5RH50_HUMAN			YES	LARP1,missense_variant,p.Glu391Asp,ENST00000336314,NM_015315.4;LARP1,missense_variant,p.Glu468Asp,ENST00000518297,;LARP1,missense_variant,p.Glu263Asp,ENST00000524248,;LARP1,missense_variant,p.Glu176Asp,ENST00000523163,;LARP1,missense_variant,p.Glu75Asp,ENST00000518742,;LARP1,upstream_gene_variant,,ENST00000518677,;LARP1,upstream_gene_variant,,ENST00000522272,;LARP1,downstream_gene_variant,,ENST00000518194,;LARP1,non_coding_transcript_exon_variant,,ENST00000518595,;							MODERATE	1173/3060	E468D	LARP1_HUMAN			Transcript		benign(0.023)	.	ENSP00000336721		CCDS4328.1			1	
PARP12	0	LGGM	GRCh37	7	139726143	139726143	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	21	23	.	.	ENST00000263549.3:c.1634A>G	p.Lys545Arg	p.K545R	ENST00000263549	NM_022750.2	545	aAa/aGa	0	1	1	UPI000006F644	0	getma.org/pdb.php?prot=PAR12_HUMAN&from=497&to=679&var=K545R	ENST00000263549		ENSG00000059378	21919		44	1.52		HGNC	p.K545R	rs756961642	PARP12		SNV							ENST00000263549	protein_coding	getma.org/?cm=var&var=hg19,7,139726143,T,C&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF56399,Pfam_domain:PF00644,Gene3D:3.90.228.10,hmmpanther:PTHR14453,hmmpanther:PTHR14453:SF15,PROSITE_profiles:PS51059		K/R		C	low	2508/3796	1.52E-05	getma.org/?cm=msa&ty=f&p=PAR12_HUMAN&rb=497&re=679&var=K545R	tolerated(0.06)	A4D1T0_HUMAN			YES	PARP12,missense_variant,p.Lys545Arg,ENST00000263549,NM_022750.2;PARP12,missense_variant,p.Lys17Arg,ENST00000484111,;PARP12,synonymous_variant,p.=,ENST00000489809,;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,;							MODERATE	1634/2106	K545R	PAR12_HUMAN			Transcript		benign(0.298)	.	ENSP00000263549	8.24E-06	CCDS5857.1			1	
OR14A16	0	LGGM	GRCh37	1	247978702	247978702	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	67	24	.	.	ENST00000357627.1:c.330G>T	p.Leu110=	p.L110=	ENST00000357627	NM_001001966.1	110	ctG/ctT	0	1	1	UPI0000041CE2	0		ENST00000357627		ENSG00000196772	15022		91			HGNC	p.L110L		OR14A16		SNV							ENST00000357627	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF51,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L		A		330/930							YES	OR14A16,synonymous_variant,p.=,ENST00000357627,NM_001001966.1;							LOW	330/930		O14AG_HUMAN			Transcript			.	ENSP00000350248		CCDS31097.1			1	
SEC24A	0	LGGM	GRCh37	5	134033600	134033600	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	65	25	.	.	ENST00000398844.2:c.2119C>T	p.Arg707Trp	p.R707W	ENST00000398844	NM_021982.2	707	Cgg/Tgg	0	1	1	UPI0000185FF9	0	getma.org/pdb.php?prot=SC24A_HUMAN&from=501&to=739&var=R707W	ENST00000398844		ENSG00000113615	10703		90	3.18		HGNC	p.R707W	rs765647790	SEC24A		SNV							ENST00000398844	protein_coding	getma.org/?cm=var&var=hg19,5,134033600,C,T&fts=all		Superfamily_domains:SSF81995,Superfamily_domains:SSF53300,Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1		R/W		T	medium	2407/6299	3.00E-05	getma.org/?cm=msa&ty=f&p=SC24A_HUMAN&rb=501&re=739&var=R707W	deleterious(0)				YES	SEC24A,missense_variant,p.Arg707Trp,ENST00000398844,NM_021982.2;SEC24A,downstream_gene_variant,,ENST00000322887,NM_001252231.1;RNU6-1164P,downstream_gene_variant,,ENST00000364428,;							MODERATE	2119/3282	R707W	SC24A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000381823	1.66E-05	CCDS43363.1			1	
CLOCK	0	LGGM	GRCh37	4	56322092	56322092	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093134	H093134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	46	26	.	.	ENST00000309964.4:c.954A>G	p.Leu318=	p.L318=	ENST00000309964	NM_004898.3	318	ctA/ctG	0	1	1	UPI0000031303	0		ENST00000309964		ENSG00000134852	2082		72			HGNC	p.L318L		CLOCK		SNV							ENST00000309964	protein_coding			Gene3D:3.30.450.20,Pfam_domain:PF14598,PROSITE_profiles:PS50112,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF2,SMART_domains:SM00091,Superfamily_domains:SSF55785		L		C		1205/10304				C9JK03_HUMAN			YES	CLOCK,synonymous_variant,p.=,ENST00000309964,NM_004898.3;CLOCK,synonymous_variant,p.=,ENST00000381322,NM_001267843.1;CLOCK,synonymous_variant,p.=,ENST00000513440,;TMEM165,downstream_gene_variant,,ENST00000608091,;CLOCK,non_coding_transcript_exon_variant,,ENST00000506747,;TMEM165,downstream_gene_variant,,ENST00000506103,;							LOW	954/2541		CLOCK_HUMAN			Transcript			.	ENSP00000308741		CCDS3500.1			1	
PCDHA11	0	LGGM	GRCh37	5	140250179	140250179	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	43	27	.	.	ENST00000398640.2:c.1491G>A	p.Arg497=	p.R497=	ENST00000398640	NM_018902.3	497	cgG/cgA	0	1	1	UPI00001273D4	0		ENST00000398640		ENSG00000249158	8665		70			HGNC	p.R497R		PCDHA11		SNV							ENST00000398640	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF68,SMART_domains:SM00112,Superfamily_domains:SSF49313		R		A		1491/5257							YES	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;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;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;							LOW	1491/2850		PCDAB_HUMAN			Transcript			.	ENSP00000381636		CCDS47284.1			1	
KIF1C	0	LGGM	GRCh37	17	4908157	4908157	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	46	30	.	.	ENST00000320785.5:c.1027G>T	p.Asp343Tyr	p.D343Y	ENST00000320785	NM_006612.5	343	Gac/Tac	0	1	1	UPI0000001C26	0	getma.org/pdb.php?prot=KIF1C_HUMAN&from=11&to=348&var=D343Y	ENST00000320785		ENSG00000129250	6317		76	3.255		HGNC	p.D343Y		KIF1C		SNV			1				ENST00000320785	protein_coding	getma.org/?cm=var&var=hg19,17,4908157,G,T&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF322,Pfam_domain:PF00225,Gene3D:3.40.850.10,SMART_domains:SM00129,Superfamily_domains:SSF52540		D/Y		T	medium	1384/7919		getma.org/?cm=msa&ty=f&p=KIF1C_HUMAN&rb=11&re=348&var=D343Y	deleterious(0)	I3L1B1_HUMAN			YES	KIF1C,missense_variant,p.Asp343Tyr,ENST00000320785,NM_006612.5;KIF1C,downstream_gene_variant,,ENST00000574165,;KIF1C,upstream_gene_variant,,ENST00000572959,;							MODERATE	1027/3312	D343Y	KIF1C_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000320821		CCDS11065.1			1	
TROAP	0	LGGM	GRCh37	12	49724033	49724033	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	67	42	.	.	ENST00000257909.3:c.1405C>T	p.Gln469Ter	p.Q469*	ENST00000257909	NM_005480.3	469	Cag/Tag	0	1	1	UPI000007108A	0	NA	ENST00000257909		ENSG00000135451	12327		109	0		HGNC	p.Q469X		TROAP		SNV							ENST00000257909	protein_coding	getma.org/?cm=var&var=hg19,12,49724033,C,T&fts=all		hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3		Q/*		T	NA	1481/2527		NA		F8W052_HUMAN			YES	TROAP,stop_gained,p.Gln469Ter,ENST00000551245,;TROAP,stop_gained,p.Gln469Ter,ENST00000257909,NM_005480.3;TROAP,stop_gained,p.Gln177Ter,ENST00000547923,;C1QL4,downstream_gene_variant,,ENST00000334221,NM_001008223.1;TROAP,downstream_gene_variant,,ENST00000547807,;TROAP,downstream_gene_variant,,ENST00000550346,;TROAP,downstream_gene_variant,,ENST00000551567,;TROAP,downstream_gene_variant,,ENST00000551192,;TROAP,downstream_gene_variant,,ENST00000546735,;TROAP,downstream_gene_variant,,ENST00000546776,;TROAP,downstream_gene_variant,,ENST00000549891,;TROAP,downstream_gene_variant,,ENST00000548817,;							HIGH	1405/2337	Q469*	TROAP_HUMAN			Transcript			.	ENSP00000257909		CCDS8784.1			1	
GREB1L	0	LGGM	GRCh37	18	19021430	19021430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	95	44	.	.	ENST00000580732.2:c.1139C>T	p.Ala380Val	p.A380V	ENST00000580732		380	gCa/gTa	0	1		UPI0001642876	0	NA	ENST00000424526		ENSG00000141449	31042		139	1.78		HGNC	p.A380V		GREB1L		SNV							ENST00000424526	protein_coding	getma.org/?cm=var&var=hg19,18,19021430,C,T&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12		A/V		T	low	1410/6052		getma.org/?cm=msa&ty=f&p=GRB1L_HUMAN&rb=1&re=1921&var=A380V	tolerated(0.14)					GREB1L,missense_variant,p.Ala380Val,ENST00000580732,;GREB1L,missense_variant,p.Ala380Val,ENST00000424526,NM_001142966.1;GREB1L,missense_variant,p.Ala380Val,ENST00000400483,;GREB1L,missense_variant,p.Ala380Val,ENST00000269218,;GREB1L,missense_variant,p.Ala380Val,ENST00000431264,;GREB1L,downstream_gene_variant,,ENST00000579454,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;							MODERATE	1139/5772	A380V	GRB1L_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000412060		CCDS45836.1			1	
GPR128	0	LGGM	GRCh37	3	100373903	100373903	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	73	45	.	.	ENST00000273352.3:c.1604A>G	p.Tyr535Cys	p.Y535C	ENST00000273352	NM_032787.2	535	tAt/tGt	0	1	1	UPI000004B6DF	0	NA	ENST00000273352		ENSG00000144820	19241		118	3.45		HGNC	p.Y535C		GPR128		SNV							ENST00000273352	protein_coding	getma.org/?cm=var&var=hg19,3,100373903,A,G&fts=all		Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF43,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/C		G	medium	1872/3140		getma.org/?cm=msa&ty=f&p=GP128_HUMAN&rb=431&re=716&var=Y535C	deleterious(0)	Q6ZMH0_HUMAN			YES	GPR128,missense_variant,p.Tyr535Cys,ENST00000273352,NM_032787.2;GPR128,missense_variant,p.Tyr240Cys,ENST00000475887,;GPR128,non_coding_transcript_exon_variant,,ENST00000481506,;							MODERATE	1604/2394	Y535C	GP128_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000273352		CCDS2938.1			1	
UGT1A5	0	LGGM	GRCh37	2	234622215	234622215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	73	46	.	.	ENST00000373414.3:c.578A>T	p.Tyr193Phe	p.Y193F	ENST00000373414		193	tAt/tTt	0	1	1	UPI0000001043	0	NA	ENST00000373414		ENSG00000240224	12537		119	3.2		HGNC	p.Y193F		UGT1A5		SNV							ENST00000373414	protein_coding	getma.org/?cm=var&var=hg19,2,234622215,A,T&fts=all		Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926:SF166,hmmpanther:PTHR11926		Y/F		T	medium	578/2345		getma.org/?cm=msa&ty=f&p=UD15_HUMAN&rb=29&re=525&var=Y193F	tolerated(0.07)	Q5QTE5_HUMAN,Q5DSZ9_HUMAN			YES	UGT1A5,missense_variant,p.Tyr193Phe,ENST00000373414,;UGT1A8,missense_variant,p.Tyr193Phe,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,;							MODERATE	578/1605	Y193F	UD15_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000362513		CCDS33404.1			1	
NRG3	0	LGGM	GRCh37	10	84744874	84744874	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093134	H093134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	113	56	.	.	ENST00000372141.2:c.1604A>T	p.Lys535Ile	p.K535I	ENST00000372141	NM_001165972.1	535	aAa/aTa	0	1		UPI000013050A	0	NA	ENST00000404547		ENSG00000185737	7999		169	0.205		HGNC	p.K185I		NRG3		SNV							ENST00000537893	protein_coding	getma.org/?cm=var&var=hg19,10,84744874,A,T&fts=all		hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18		K/I		T	neutral	1676/2163		getma.org/?cm=msa&ty=f&p=NRG3_HUMAN&rb=341&re=719&var=K559I	tolerated_low_confidence(0.05)	D9ZHP6_HUMAN				NRG3,missense_variant,p.Lys338Ile,ENST00000372142,NM_001165973.1;NRG3,missense_variant,p.Lys559Ile,ENST00000404547,;NRG3,missense_variant,p.Lys535Ile,ENST00000372141,NM_001165972.1,NM_001010848.3;NRG3,missense_variant,p.Lys365Ile,ENST00000556918,;NRG3,missense_variant,p.Lys339Ile,ENST00000404576,;NRG3,missense_variant,p.Lys185Ile,ENST00000545131,;NRG3,missense_variant,p.Lys185Ile,ENST00000537893,;NRG3,3_prime_UTR_variant,,ENST00000602794,;NRG3,3_prime_UTR_variant,,ENST00000555784,;							MODERATE	1676/2163	K559I	NRG3_HUMAN			Transcript		benign(0.022)	.	ENSP00000384796					1	
ZNF28	0	LGGM	GRCh37	19	53311378	53311378	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	158	58	.	.	ENST00000457749.2:c.24G>A	p.Leu8=	p.L8=	ENST00000457749	NM_006969.3	8	ttG/ttA	0	1	1	UPI00001D8190	0		ENST00000457749		ENSG00000198538	13073		216			HGNC	p.L8L		ZNF28		SNV							ENST00000594602	protein_coding			Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,SMART_domains:SM00349		L		T		144/4556				C9K0H3_HUMAN			YES	ZNF28,synonymous_variant,p.=,ENST00000457749,NM_006969.3;ZNF28,synonymous_variant,p.=,ENST00000594602,;ZNF28,5_prime_UTR_variant,,ENST00000339844,;ZNF28,intron_variant,,ENST00000414252,;ZNF28,intron_variant,,ENST00000391783,;ZNF28,intron_variant,,ENST00000596559,;ZNF28,upstream_gene_variant,,ENST00000438150,;ZNF28,upstream_gene_variant,,ENST00000360272,;ZNF28,non_coding_transcript_exon_variant,,ENST00000464469,;CTD-2102P23.1,upstream_gene_variant,,ENST00000536597,;							LOW	24/2157		ZNF28_HUMAN			Transcript			.	ENSP00000397693		CCDS33093.2			1	
ERCC6	0	LGGM	GRCh37	10	50678283	50678283	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	86	63	.	.	ENST00000355832.5:c.3723G>T	p.Glu1241Asp	p.E1241D	ENST00000355832	NM_000124.3	1241	gaG/gaT	0	1	1	UPI000000D8DA	0	NA	ENST00000355832		ENSG00000225830	3438		149	1.575		HGNC	p.E611D		ERCC6		SNV			1				ENST00000542458	protein_coding	getma.org/?cm=var&var=hg19,10,50678283,C,A&fts=all		hmmpanther:PTHR10799:SF49,hmmpanther:PTHR10799		E/D		A	low	3802/8008		getma.org/?cm=msa&ty=f&p=ERCC6_HUMAN&rb=1153&re=1352&var=E1241D	tolerated(0.32)	F5H493_HUMAN,D6R9X7_HUMAN			YES	ERCC6,missense_variant,p.Glu1241Asp,ENST00000355832,NM_000124.3;ERCC6,missense_variant,p.Glu611Asp,ENST00000542458,;RP11-123B3.2,intron_variant,,ENST00000423283,;ERCC6,non_coding_transcript_exon_variant,,ENST00000465653,;							MODERATE	3723/4482	E1241D	ERCC6_HUMAN			Transcript		benign(0.015)	.	ENSP00000348089		CCDS7229.1			1	
ZNF765	0	LGGM	GRCh37	19	53905417	53905417	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093134	H093134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	132	67	.	.	ENST00000396408.3:c.115G>T	p.Glu39Ter	p.E39*	ENST00000396408	NM_001040185.1	39	Gag/Tag	0	1	1	UPI000040C508	0	NA	ENST00000396408		ENSG00000196417	25092		199	0		HGNC	p.E39X		ZNF765		SNV							ENST00000504235	protein_coding	getma.org/?cm=var&var=hg19,19,53905417,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		E/*		T	NA	232/4569		NA		D6RF03_HUMAN			YES	ZNF765,stop_gained,p.Glu39Ter,ENST00000396408,NM_001040185.1;ZNF765,stop_gained,p.Glu39Ter,ENST00000594030,;ZNF765,intron_variant,,ENST00000505866,;ZNF765,intron_variant,,ENST00000504146,;ZNF765,stop_gained,p.Glu39Ter,ENST00000504235,;ZNF765,intron_variant,,ENST00000507045,;							HIGH	115/1572	E39*	ZN765_HUMAN			Transcript			.	ENSP00000379689		CCDS46171.1			1	
RRBP1	0	LGGM	GRCh37	20	17639544	17639544	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	167	78	.	.	ENST00000377807.2:c.529-210G>A		*177*	ENST00000377807	NM_001042576.1			0	1	1	UPI000002B2C0	0		ENST00000377807		ENSG00000125844	10448		245			HGNC	p.G537S		RRBP1		SNV							ENST00000377813	protein_coding							T		-/3792				F8W7S5_HUMAN			YES	RRBP1,missense_variant,p.Gly537Ser,ENST00000377813,;RRBP1,missense_variant,p.Gly537Ser,ENST00000246043,;RRBP1,intron_variant,,ENST00000377807,NM_001042576.1;RRBP1,intron_variant,,ENST00000360807,NM_004587.2;RRBP1,intron_variant,,ENST00000455029,;RRBP1,downstream_gene_variant,,ENST00000398782,;RRBP1,missense_variant,p.Gly12Ser,ENST00000495501,;							MODIFIER	-/2934		RRBP1_HUMAN			Transcript			.	ENSP00000367038		CCDS13128.1			1	
PCLO	0	LGGM	GRCh37	7	82585431	82585431	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093134	H093134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093134N.bam, H093134T.bam	Illumina HiSeq	139	86	.	.	ENST00000333891.9:c.4838G>A	p.Arg1613Gln	p.R1613Q	ENST00000333891	NM_033026.5	1613	cGa/cAa	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406	8.64E-05	225	1.61		HGNC	p.R1613Q	rs369016904,COSM3641429,COSM3641430,COSM3641431	PCLO		SNV	T:0		1			0,1,1,1	ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82585431,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		R/Q	T:0.0002	T	low	5176/20329	1.50E-05	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1455&re=1646&var=R1544Q					YES	PCLO,missense_variant,p.Arg1613Gln,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Arg1613Gln,ENST00000423517,NM_014510.2;	0.000116				0,1,1,1		MODERATE	4838/15429	R1544Q	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319	2.48E-05	CCDS47630.1			1	
FN1	0	LGGM	GRCh37	2	216299418	216299418	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	40	3	.	.	ENST00000354785.4:c.277+1G>T		p.X93_splice	ENST00000354785				0	1		UPI00001AEBF3	0		ENST00000359671		ENSG00000115414	3778		43			HGNC	-		FN1		SNV			1				ENST00000421182	protein_coding							A		-/8524				Q9H382_HUMAN,Q7L553_HUMAN,Q53S27_HUMAN,A6YID6_HUMAN				FN1,splice_donor_variant,,ENST00000354785,;FN1,splice_donor_variant,,ENST00000323926,NM_212482.1;FN1,splice_donor_variant,,ENST00000359671,;FN1,splice_donor_variant,,ENST00000336916,NM_212478.1,NM_002026.2;FN1,splice_donor_variant,,ENST00000421182,;FN1,splice_donor_variant,,ENST00000357009,;FN1,splice_donor_variant,,ENST00000346544,;FN1,splice_donor_variant,,ENST00000446046,;FN1,splice_donor_variant,,ENST00000345488,;FN1,splice_donor_variant,,ENST00000357867,NM_212474.1;FN1,splice_donor_variant,,ENST00000356005,NM_212476.1;FN1,splice_donor_variant,,ENST00000443816,;FN1,splice_donor_variant,,ENST00000432072,;FN1,splice_donor_variant,,ENST00000426059,NM_054034.2;AC012462.1,upstream_gene_variant,,ENST00000412951,;							HIGH	277/7161		FINC_HUMAN			Transcript			.	ENSP00000352696					1	
TOX4	0	LGGM	GRCh37	14	21964732	21964732	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	11	3	.	.	ENST00000405508.1:c.1834A>C	p.Arg612=	p.R612=	ENST00000405508		612	Aga/Cga	0	1		UPI00017A782B	0		ENST00000448790		ENSG00000092203	20161		14			HGNC	p.R612R		TOX4		SNV							ENST00000262709	protein_coding					R		C		1820/2017				C9J919_HUMAN,B4DPY8_HUMAN				TOX4,synonymous_variant,p.=,ENST00000405508,;TOX4,synonymous_variant,p.=,ENST00000262709,NM_014828.2;TOX4,synonymous_variant,p.=,ENST00000448790,;METTL3,downstream_gene_variant,,ENST00000298717,NM_019852.3;METTL3,downstream_gene_variant,,ENST00000538267,;TOX4,3_prime_UTR_variant,,ENST00000455393,;TOX4,downstream_gene_variant,,ENST00000476180,;METTL3,downstream_gene_variant,,ENST00000396522,;METTL3,downstream_gene_variant,,ENST00000543235,;METTL3,downstream_gene_variant,,ENST00000537163,;METTL3,downstream_gene_variant,,ENST00000544500,;METTL3,downstream_gene_variant,,ENST00000536201,;METTL3,downstream_gene_variant,,ENST00000544248,;METTL3,downstream_gene_variant,,ENST00000539760,;TOX4,downstream_gene_variant,,ENST00000473176,;TOX4,downstream_gene_variant,,ENST00000463119,;							LOW	1765/1797					Transcript			.	ENSP00000393080					1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H093295	H093295N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	7	5	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	12			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
TAF1B	0	LGGM	GRCh37	2	10053361	10053361	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	46	5	.	.	ENST00000263663.5:c.1254G>A	p.Trp418Ter	p.W418*	ENST00000263663	NM_005680.2	418	tgG/tgA	0	1	1	UPI0000208E44	0	NA	ENST00000263663		ENSG00000115750	11533		51	0		HGNC	p.W163X		TAF1B		SNV							ENST00000396242	protein_coding	getma.org/?cm=var&var=hg19,2,10053361,G,A&fts=all		hmmpanther:PTHR31576,hmmpanther:PTHR31576:SF2		W/*		A	NA	1442/2387		NA					YES	TAF1B,stop_gained,p.Trp418Ter,ENST00000263663,NM_005680.2;TAF1B,stop_gained,p.Trp163Ter,ENST00000396242,;TAF1B,stop_gained,p.Trp190Ter,ENST00000492648,;TAF1B,3_prime_UTR_variant,,ENST00000434858,;							HIGH	1254/1767	W418*	TAF1B_HUMAN			Transcript			.	ENSP00000263663		CCDS33143.1			1	
ADAMTS6	0	LGGM	GRCh37	5	64629883	64629883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	7	5	.	.	ENST00000381055.3:c.1103C>A	p.Pro368His	p.P368H	ENST00000381055	NM_197941.2	368	cCc/cAc	0	1	1	UPI000050D3F1	0	getma.org/pdb.php?prot=ATS6_HUMAN&from=250&to=468&var=P368H	ENST00000381055		ENSG00000049192	222		12	2.05		HGNC	p.P368H		ADAMTS6		SNV							ENST00000536360	protein_coding	getma.org/?cm=var&var=hg19,5,64629883,G,T&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Superfamily_domains:SSF55486		P/H		T	medium	1960/7311		getma.org/?cm=msa&ty=f&p=ATS6_HUMAN&rb=250&re=468&var=P368H	deleterious(0)	Q5IR90_HUMAN			YES	ADAMTS6,missense_variant,p.Pro368His,ENST00000381055,NM_197941.2;ADAMTS6,missense_variant,p.Pro368His,ENST00000464680,;ADAMTS6,missense_variant,p.Pro368His,ENST00000536360,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;							MODERATE	1103/3354	P368H	ATS6_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000370443		CCDS3983.2			1	
C9orf84	0	LGGM	GRCh37	9	114454555	114454555	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	19	5	.	.	ENST00000374287.3:c.3510G>A	p.Met1170Ile	p.M1170I	ENST00000374287		1170	atG/atA	0	1		UPI0000458916	0	NA	ENST00000318737		ENSG00000165181	26535		24	0.805		HGNC	p.M1131I		C9orf84		SNV							ENST00000394779	protein_coding	getma.org/?cm=var&var=hg19,9,114454555,C,T&fts=all				M/I		T	low	3639/4661		getma.org/?cm=msa&ty=f&p=CI084_HUMAN&rb=1104&re=1303&var=M1170I	tolerated(0.13)					C9orf84,missense_variant,p.Met1131Ile,ENST00000394779,NM_001080551.1;C9orf84,missense_variant,p.Met1096Ile,ENST00000394777,;C9orf84,missense_variant,p.Met1170Ile,ENST00000374287,;C9orf84,missense_variant,p.Met1170Ile,ENST00000318737,NM_173521.3;							MODERATE	3510/4335	M1170I	CI084_HUMAN			Transcript		benign(0.01)	.	ENSP00000322108		CCDS6781.3			1	
DDX1	0	LGGM	GRCh37	2	15744635	15744635	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	15	6	.	.	ENST00000381341.2:c.625+2T>G		p.X209_splice	ENST00000381341				0	1		UPI00001290D1	0		ENST00000233084		ENSG00000079785	2734		21			HGNC	-		DDX1		SNV							ENST00000381341	protein_coding							G		-/2706				B4DME8_HUMAN,A3RJH1_HUMAN				DDX1,splice_donor_variant,,ENST00000381341,;DDX1,splice_donor_variant,,ENST00000233084,NM_004939.2;							HIGH	625/2223		DDX1_HUMAN			Transcript			.	ENSP00000233084		CCDS1686.1			1	
ACVR2A	0	LGGM	GRCh37	2	148684837	148684837	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	8	6	.	.	ENST00000241416.7:c.1536T>A	p.Ser512Arg	p.S512R	ENST00000241416	NM_001616.4	512	agT/agA	0	1	1	UPI0000126673	0	NA	ENST00000241416		ENSG00000121989	173		14	1.04		HGNC	p.S512R		ACVR2A		SNV							ENST00000241416	protein_coding	getma.org/?cm=var&var=hg19,2,148684837,T,A&fts=all		Prints_domain:PR00653,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF64		S/R		A	low	2172/5728		getma.org/?cm=msa&ty=f&p=AVR2A_HUMAN&rb=480&re=513&var=S512R	deleterious(0)	B4DWQ2_HUMAN			YES	ACVR2A,missense_variant,p.Ser512Arg,ENST00000241416,NM_001616.4,NM_001278579.1;ACVR2A,missense_variant,p.Ser512Arg,ENST00000404590,;ACVR2A,missense_variant,p.Ser404Arg,ENST00000535787,NM_001278580.1;ORC4,downstream_gene_variant,,ENST00000392857,NM_001190882.2,NM_002552.4,NM_001190879.2,NM_181741.3;ACVR2A,non_coding_transcript_exon_variant,,ENST00000495775,;							MODERATE	1536/1542	S512R	AVR2A_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000241416		CCDS33301.1			1	
SPRR1A	0	LGGM	GRCh37	1	152957709	152957709	+	start_lost	Translation_Start_Site	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	108	6	.	.	ENST00000307122.2:c.3G>T	p.Met1?	p.M1?	ENST00000307122	NM_001199828.1	1	atG/atT	0	1		UPI000013EBCC	0		ENST00000368762		ENSG00000169474	11259		114			HGNC	p.M1I		SPRR1A		SNV							ENST00000307122	protein_coding					M/I		T		3/270			deleterious_low_confidence(0)					SPRR1A,start_lost,p.Met1?,ENST00000307122,NM_001199828.1,NM_005987.3;SPRR1A,start_lost,p.Met1?,ENST00000368762,;							HIGH	3/270		SPR1A_HUMAN			Transcript		benign(0)	.	ENSP00000357751		CCDS1032.1			1	
CDH18	0	LGGM	GRCh37	5	19612688	19612688	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	9	6	.	.	ENST00000507958.1:c.666T>C	p.His222=	p.H222=	ENST00000507958		222	caT/caC	0	1		UPI0000126DBD	0		ENST00000274170		ENSG00000145526	1757		15			HGNC	p.H222H	rs773920679	CDH18		SNV							ENST00000506372	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		H		G		1178/2885	1.51E-05							CDH18,synonymous_variant,p.=,ENST00000507958,;CDH18,synonymous_variant,p.=,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,synonymous_variant,p.=,ENST00000274170,;CDH18,synonymous_variant,p.=,ENST00000506372,;CDH18,synonymous_variant,p.=,ENST00000502796,;CDH18,synonymous_variant,p.=,ENST00000511273,;CDH18,synonymous_variant,p.=,ENST00000515257,;							LOW	666/2373		CAD18_HUMAN			Transcript			.	ENSP00000274170	8.24E-06	CCDS3889.1			1	
DLD	0	LGGM	GRCh37	7	107533647	107533647	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	21	6	.	.	ENST00000205402.5:c.42A>T	p.Arg14Ser	p.R14S	ENST00000205402	NM_000108.3	14	agA/agT	0	1	1	UPI0000072725	0	NA	ENST00000205402		ENSG00000091140	2898		27	0		HGNC	p.R14S		DLD		SNV			1				ENST00000415325	protein_coding	getma.org/?cm=var&var=hg19,7,107533647,A,T&fts=all		hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF20		R/S		T	neutral	323/3755		getma.org/?cm=msa&ty=f&p=DLDH_HUMAN&rb=1&re=42&var=R14S	deleterious_low_confidence(0.01)	B4DHG0_HUMAN			YES	DLD,missense_variant,p.Arg14Ser,ENST00000205402,NM_000108.3;DLD,missense_variant,p.Arg14Ser,ENST00000440410,;DLD,missense_variant,p.Arg14Ser,ENST00000437604,;DLD,splice_region_variant,,ENST00000537148,;DLD,splice_region_variant,,ENST00000494441,;DLD,splice_region_variant,,ENST00000453354,;DLD,missense_variant,p.Arg14Ser,ENST00000417551,;DLD,missense_variant,p.Arg14Ser,ENST00000415325,;DLD,missense_variant,p.Arg14Ser,ENST00000451081,;DLD,missense_variant,p.Arg14Ser,ENST00000450038,;DLD,splice_region_variant,,ENST00000460577,;DLD,splice_region_variant,,ENST00000485066,;							MODERATE	42/1530	R14S	DLDH_HUMAN			Transcript		benign(0.001)	.	ENSP00000205402		CCDS5749.1			1	
KRT9	0	LGGM	GRCh37	17	39725839	39725839	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	18	6	.	.	ENST00000246662.4:c.883G>A	p.Glu295Lys	p.E295K	ENST00000246662	NM_000226.3	295	Gag/Aag	0	1	1	UPI00001AE6F7	0	getma.org/pdb.php?prot=K1C9_HUMAN&from=152&to=464&var=E295K	ENST00000246662		ENSG00000171403	6447		24	2.735		HGNC	p.E295K		KRT9		SNV			1				ENST00000246662	protein_coding	getma.org/?cm=var&var=hg19,17,39725839,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038		E/K		T	medium	949/2287		getma.org/?cm=msa&ty=f&p=K1C9_HUMAN&rb=152&re=464&var=E295K	deleterious(0)	K7EQQ3_HUMAN			YES	KRT9,missense_variant,p.Glu295Lys,ENST00000246662,NM_000226.3;KRT9,missense_variant,p.Glu62Lys,ENST00000588431,;							MODERATE	883/1872	E295K	K1C9_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000246662		CCDS32654.1			1	
USP34	0	LGGM	GRCh37	2	61439058	61439058	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	9	6	.	.	ENST00000398571.2:c.8689G>C	p.Glu2897Gln	p.E2897Q	ENST00000398571	NM_014709.3	2897	Gaa/Caa	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		15	1.355		HGNC	p.E2897Q		USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61439058,C,G&fts=all				E/Q		G	low	8766/11357		getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=2307&re=3350&var=E2897Q	deleterious(0.01)				YES	USP34,missense_variant,p.Glu2897Gln,ENST00000398571,NM_014709.3;USP34,missense_variant,p.Glu657Gln,ENST00000411912,;USP34,non_coding_transcript_exon_variant,,ENST00000472689,;USP34,non_coding_transcript_exon_variant,,ENST00000476716,;USP34,non_coding_transcript_exon_variant,,ENST00000467128,;USP34,downstream_gene_variant,,ENST00000472706,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;USP34,downstream_gene_variant,,ENST00000490527,;							MODERATE	8689/10641	E2897Q	UBP34_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000381577		CCDS42686.1			1	
SLCO6A1	0	LGGM	GRCh37	5	101834407	101834407	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	101	6	.	.	ENST00000506729.1:c.142C>T	p.His48Tyr	p.H48Y	ENST00000506729		48	Cac/Tac	0	1		UPI000020C392	0	NA	ENST00000379807		ENSG00000205359	23613		107	-0.345		HGNC	p.H48Y		SLCO6A1		SNV							ENST00000379807	protein_coding	getma.org/?cm=var&var=hg19,5,101834407,G,A&fts=all		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3		H/Y		A	neutral	277/2437		getma.org/?cm=msa&ty=f&p=SO6A1_HUMAN&rb=1&re=104&var=H48Y	tolerated(1)	H0Y8R6_HUMAN,D3DSZ4_HUMAN				SLCO6A1,missense_variant,p.His48Tyr,ENST00000506729,;SLCO6A1,missense_variant,p.His48Tyr,ENST00000379807,NM_173488.3;SLCO6A1,missense_variant,p.His48Tyr,ENST00000389019,;SLCO6A1,missense_variant,p.His48Tyr,ENST00000379810,;SLCO6A1,missense_variant,p.His48Tyr,ENST00000513675,;RP11-58B2.1,upstream_gene_variant,,ENST00000502494,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,upstream_gene_variant,,ENST00000514551,;							MODERATE	142/2160	H48Y	SO6A1_HUMAN			Transcript		benign(0)	.	ENSP00000369135		CCDS34206.1			1	
NFE2L2	0	LGGM	GRCh37	2	178098967	178098967	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	19	7	.	.	ENST00000397062.3:c.78A>C	p.Gln26His	p.Q26H	ENST00000397062	NM_006164.4	26	caA/caC	0	1	1	UPI000012FFD0	0	NA	ENST00000397062		ENSG00000116044	7782		26	2.865		HGNC	p.Q25H	COSM3708113	NFE2L2		SNV						1	ENST00000586532	protein_coding	getma.org/?cm=var&var=hg19,2,178098967,T,G&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3		Q/H		G	medium	633/2853		getma.org/?cm=msa&ty=f&p=NF2L2_HUMAN&rb=1&re=200&var=Q26H	deleterious(0)	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN			YES	NFE2L2,missense_variant,p.Gln26His,ENST00000397062,NM_006164.4;NFE2L2,missense_variant,p.Gln10His,ENST00000464747,;NFE2L2,missense_variant,p.Gln10His,ENST00000397063,NM_001145412.2,NM_001145413.2;NFE2L2,missense_variant,p.Gln10His,ENST00000446151,;NFE2L2,missense_variant,p.Gln10His,ENST00000423513,;NFE2L2,missense_variant,p.Gln10His,ENST00000421929,;NFE2L2,missense_variant,p.Gln10His,ENST00000448782,;NFE2L2,missense_variant,p.Gln10His,ENST00000449627,;NFE2L2,missense_variant,p.Gln25His,ENST00000586532,;NFE2L2,missense_variant,p.Gln10His,ENST00000588123,;NFE2L2,intron_variant,,ENST00000430047,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000477534,;NFE2L2,non_coding_transcript_exon_variant,,ENST00000462023,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;					1		MODERATE	78/1818	Q26H	NF2L2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380252		CCDS42782.1			1	
AHCTF1	0	LGGM	GRCh37	1	247081574	247081574	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	13	7	.	.	ENST00000326225.3:c.126G>T	p.Val42=	p.V42=	ENST00000326225	NM_015446.4	42	gtG/gtT	0	1	1	UPI0000204034	0		ENST00000326225		ENSG00000153207	24618		20			HGNC	p.V68V		AHCTF1		SNV							ENST00000366508	protein_coding			hmmpanther:PTHR21583		V		A		223/8633				C9J5C5_HUMAN			YES	AHCTF1,synonymous_variant,p.=,ENST00000366508,;AHCTF1,synonymous_variant,p.=,ENST00000326225,NM_015446.4;AHCTF1,synonymous_variant,p.=,ENST00000391829,;AHCTF1,synonymous_variant,p.=,ENST00000478568,;							LOW	126/6828		ELYS_HUMAN			Transcript			.	ENSP00000355465		CCDS1629.2			1	
CLPSL1	0	LGGM	GRCh37	6	35748951	35748951	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	41	7	.	.	ENST00000373861.5:c.64A>T	p.Arg22Trp	p.R22W	ENST00000373861		22	Agg/Tgg	0	1	1	UPI000015EE7B	0	NA	ENST00000373861		ENSG00000204140	21251		48	1.1		HGNC	p.R21W		CLPSL1		SNV							ENST00000542261	protein_coding	getma.org/?cm=var&var=hg19,6,35748951,A,T&fts=all		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10041,hmmpanther:PTHR10041:SF1		R/W		T	low	158/602		getma.org/?cm=msa&ty=f&p=COLL1_HUMAN&rb=1&re=121&var=R22W	deleterious(0.02)	F6TG72_HUMAN			YES	CLPSL1,missense_variant,p.Arg22Trp,ENST00000373861,;CLPSL1,missense_variant,p.Arg21Trp,ENST00000542261,NM_001010886.3;CLPSL2,downstream_gene_variant,,ENST00000360454,NM_001286550.1;CLPSL2,downstream_gene_variant,,ENST00000403376,NM_207409.2;CLPSL2,downstream_gene_variant,,ENST00000481904,;CLPSL2,downstream_gene_variant,,ENST00000467122,;							MODERATE	64/366	R22W	COLL1_HUMAN			Transcript		benign(0.085)	.	ENSP00000362968		CCDS43456.1			1	
ABCG8	0	LGGM	GRCh37	2	44099195	44099215	+	inframe_deletion	In_Frame_Del	DEL	TTTCTAGAAAAAGTGCGTGAC	TTTCTAGAAAAAGTGCGTGAC	-	novel	by Submitter	H093295	H093295N.bam	TTTCTAGAAAAAGTGCGTGAC	TTTCTAGAAAAAGTGCGTGAC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	9	8	.	.	ENST00000272286.2:c.1047_1067del	p.Phe349_Asp355del	p.F349_D355del	ENST00000272286	NM_022437.2	349	TTTCTAGAAAAAGTGCGTGAC/-	0	1	1	UPI000004C4CD	0		ENST00000272286		ENSG00000143921	13887		17			HGNC	p.349_355del		ABCG8		deletion			1				ENST00000272286	protein_coding			hmmpanther:PTHR19241		FLEKVRD/-		-		1135-1155/2665				Q96A01_HUMAN			YES	ABCG8,inframe_deletion,p.Phe349_Asp355del,ENST00000272286,NM_022437.2;							MODERATE	1045-1065/2022		ABCG8_HUMAN			Transcript	2		.	ENSP00000272286		CCDS1815.1			1	
ANKLE2	0	LGGM	GRCh37	12	133324846	133324846	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	6	8	.	.	ENST00000357997.5:c.919C>T	p.Gln307Ter	p.Q307*	ENST00000357997	NM_015114.1	307	Cag/Tag	0	1	1	UPI00001981FB	0	NA	ENST00000357997		ENSG00000176915	29101		14	0		HGNC	p.Q77X		ANKLE2		SNV							ENST00000545623	protein_coding	getma.org/?cm=var&var=hg19,12,133324846,G,A&fts=all		hmmpanther:PTHR20976,hmmpanther:PTHR20976:SF1		Q/*		A	NA	1009/4481		NA		F5H417_HUMAN,F5H2H5_HUMAN,F5H1E7_HUMAN,F5H1D4_HUMAN			YES	ANKLE2,stop_gained,p.Gln245Ter,ENST00000539605,;ANKLE2,stop_gained,p.Gln307Ter,ENST00000357997,NM_015114.1;ANKLE2,stop_gained,p.Gln307Ter,ENST00000337516,;ANKLE2,stop_gained,p.Gln77Ter,ENST00000545623,;ANKLE2,5_prime_UTR_variant,,ENST00000546061,;ANKLE2,upstream_gene_variant,,ENST00000535036,;RP13-672B3.5,downstream_gene_variant,,ENST00000539323,;							HIGH	919/2817	Q307*	ANKL2_HUMAN			Transcript			.	ENSP00000350686		CCDS41869.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	13	8	.	.	ENST00000349496.5:c.94G>A	p.Asp32Asn	p.D32N	ENST00000349496	NM_001904.3	32	Gac/Aac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32N	ENST00000349496	pathogenic	ENSG00000168036	2514		21	2.46		HGNC	p.D32N	rs28931588,COSM5672	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/N		A	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32N	deleterious(0.05)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Asn,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Asn,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Asn,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Asn,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Asn,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32N	CTNB1_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000344456		CCDS2694.1			1	19635198
ABCD3	0	LGGM	GRCh37	1	94939326	94939326	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	8	9	.	.	ENST00000370214.4:c.340A>G	p.Ile114Val	p.I114V	ENST00000370214	NM_002858.3	114	Atc/Gtc	0	1	1	UPI000004C4C7	0	NA	ENST00000370214		ENSG00000117528	67		17	2.34		HGNC	p.I41V		ABCD3		SNV							ENST00000536817	protein_coding	getma.org/?cm=var&var=hg19,1,94939326,A,G&fts=all		PROSITE_profiles:PS50929,hmmpanther:PTHR11384:SF26,hmmpanther:PTHR11384,Pfam_domain:PF06472,TIGRFAM_domain:TIGR00954,Superfamily_domains:SSF90123		I/V		G	medium	364/3538		getma.org/?cm=msa&ty=f&p=ABCD3_HUMAN&rb=57&re=338&var=I114V	tolerated(0.06)	F5GYC1_HUMAN			YES	ABCD3,missense_variant,p.Ile114Val,ENST00000370214,NM_002858.3;ABCD3,missense_variant,p.Ile114Val,ENST00000394233,;ABCD3,missense_variant,p.Ile41Val,ENST00000536817,;ABCD3,missense_variant,p.Ile138Val,ENST00000454898,;ABCD3,missense_variant,p.Ile114Val,ENST00000315713,NM_001122674.1;ABCD3,non_coding_transcript_exon_variant,,ENST00000468860,;							MODERATE	340/1980	I114V	ABCD3_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000359233		CCDS749.1			1	
PCDHA1	0	LGGM	GRCh37	5	140165952	140165952	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	21	9	.	.	ENST00000504120.2:c.77T>C	p.Val26Ala	p.V26A	ENST00000504120	NM_018900.2	26	gTg/gCg	0	1	1	UPI00001273C7	0	NA	ENST00000504120		ENSG00000204970	8663		30	-0.58		HGNC	p.V26A		PCDHA1		SNV							ENST00000504120	protein_coding	getma.org/?cm=var&var=hg19,5,140165952,T,C&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF92,Cleavage_site_(Signalp):SignalP-noTM		V/A		C	neutral	77/5260		getma.org/?cm=msa&ty=f&p=PCDA1_HUMAN&rb=1&re=58&var=V26A	tolerated_low_confidence(1)				YES	PCDHA1,missense_variant,p.Val26Ala,ENST00000504120,NM_018900.2;PCDHA1,missense_variant,p.Val26Ala,ENST00000394633,NM_031411.1;PCDHA1,missense_variant,p.Val26Ala,ENST00000378133,NM_031410.1;							MODERATE	77/2853	V26A	PCDA1_HUMAN			Transcript		benign(0.002)	.	ENSP00000420840		CCDS54913.1			1	
ZNF571	0	LGGM	GRCh37	19	38056135	38056137	+	inframe_deletion	In_Frame_Del	DEL	CTT	CTT	-	novel	by Submitter	H093295	H093295N.bam	CTT	CTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	15	9	.	.	ENST00000328550.2:c.1193_1195del	p.Lys398_Ala399delinsThr	p.K398_A399delinsT	ENST00000328550		398	aAAGcc/acc	0	1	1	UPI000020220A	0		ENST00000328550		ENSG00000180479	25000		24			HGNC	p.398_399del		ZNF571		deletion							ENST00000328550	protein_coding			Superfamily_domains:SSF57667,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		KA/T		-		1293-1295/3844							YES	ZNF571,inframe_deletion,p.Lys398_Ala399delinsThr,ENST00000328550,;ZNF571,inframe_deletion,p.Lys398_Ala399delinsThr,ENST00000593133,;ZNF571,inframe_deletion,p.Lys398_Ala399delinsThr,ENST00000451802,NM_016536.3;ZNF571,inframe_deletion,p.Lys398_Ala399delinsThr,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,;							MODERATE	1193-1195/1830		ZN571_HUMAN			Transcript			.	ENSP00000333660		CCDS12505.1			1	
SLITRK6	0	LGGM	GRCh37	13	86368945	86368945	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	21	9	.	.	ENST00000400286.2:c.1699C>A	p.Pro567Thr	p.P567T	ENST00000400286	NM_032229.2	567	Cca/Aca	0	1	1	UPI000004C9D6	0	NA	ENST00000400286		ENSG00000184564	23503		30	2.13		HGNC	p.P567T		SLITRK6		SNV			1				ENST00000400286	protein_coding	getma.org/?cm=var&var=hg19,13,86368945,G,T&fts=all		SMART_domains:SM00082,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373		P/T		T	medium	2298/4318		getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=517&re=568&var=P567T	deleterious(0)				YES	SLITRK6,missense_variant,p.Pro567Thr,ENST00000400286,NM_032229.2;							MODERATE	1699/2526	P567T	SLIK6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383143		CCDS41903.1			1	
NFYA	0	LGGM	GRCh37	6	41059428	41059428	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	49	9	.	.	ENST00000341376.6:c.709G>T	p.Val237Phe	p.V237F	ENST00000341376	NM_002505.4	237	Gtc/Ttc	0	1	1	UPI000012717C	0	NA	ENST00000341376		ENSG00000001167	7804		58	2.005		HGNC	p.V208F		NFYA		SNV							ENST00000353205	protein_coding	getma.org/?cm=var&var=hg19,6,41059428,G,T&fts=all		hmmpanther:PTHR12632,Low_complexity_(Seg):seg		V/F		T	medium	910/3811		getma.org/?cm=msa&ty=f&p=NFYA_HUMAN&rb=229&re=261&var=V237F	deleterious(0.01)	K9JA49_HUMAN			YES	NFYA,missense_variant,p.Val237Phe,ENST00000341376,NM_002505.4;NFYA,missense_variant,p.Val208Phe,ENST00000353205,NM_021705.3;OARD1,intron_variant,,ENST00000480585,;OARD1,intron_variant,,ENST00000488238,;							MODERATE	709/1044	V237F	NFYA_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000345702		CCDS4849.1			1	
PC	0	LGGM	GRCh37	11	66618692	66618692	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	11	10	.	.	ENST00000393960.1:c.2042A>G	p.Asn681Ser	p.N681S	ENST00000393960	NM_001040716.1	681	aAc/aGc	0	1		UPI0000132BC4	0	getma.org/pdb.php?prot=PYC_HUMAN&from=571&to=821&var=N681S	ENST00000393955		ENSG00000173599	8636		21	4.355		HGNC	p.N681S		PC		SNV			1				ENST00000393960	protein_coding	getma.org/?cm=var&var=hg19,11,66618692,T,C&fts=all		Superfamily_domains:SSF51569,PIRSF_domain:PIRSF001594,Gene3D:3.20.20.70,TIGRFAM_domain:TIGR01235,Pfam_domain:PF00682,hmmpanther:PTHR18866,PROSITE_profiles:PS50991		N/S		C	high	2123/4004		getma.org/?cm=msa&ty=f&p=PYC_HUMAN&rb=571&re=821&var=N681S	deleterious(0)	E9PS68_HUMAN				PC,missense_variant,p.Asn681Ser,ENST00000393960,NM_001040716.1;PC,missense_variant,p.Asn681Ser,ENST00000393958,NM_000920.3;PC,missense_variant,p.Asn681Ser,ENST00000393955,NM_022172.2;PC,upstream_gene_variant,,ENST00000529047,;RCE1,downstream_gene_variant,,ENST00000309657,NM_005133.2,NM_001032279.1;RCE1,downstream_gene_variant,,ENST00000524506,;RCE1,downstream_gene_variant,,ENST00000525356,;PC,non_coding_transcript_exon_variant,,ENST00000530259,;PC,upstream_gene_variant,,ENST00000528224,;PC,upstream_gene_variant,,ENST00000529352,;RCE1,downstream_gene_variant,,ENST00000533277,;RCE1,downstream_gene_variant,,ENST00000524849,;							MODERATE	2042/3537	N681S	PYC_HUMAN			Transcript		probably_damaging(0.915)	.	ENSP00000377527		CCDS8152.1			1	
UTP20	0	LGGM	GRCh37	12	101769490	101769490	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	9	10	.	.	ENST00000261637.4:c.7352T>G	p.Ile2451Ser	p.I2451S	ENST00000261637	NM_014503.2	2451	aTt/aGt	0	1	1	UPI00001FB38B	0	NA	ENST00000261637		ENSG00000120800	17897		19	1.7		HGNC	p.I2451S		UTP20		SNV							ENST00000261637	protein_coding	getma.org/?cm=var&var=hg19,12,101769490,T,G&fts=all		hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Superfamily_domains:SSF48371		I/S		G	low	7526/9025		getma.org/?cm=msa&ty=f&p=UTP20_HUMAN&rb=2265&re=2464&var=I2451S	deleterious(0)				YES	UTP20,missense_variant,p.Ile2451Ser,ENST00000261637,NM_014503.2;							MODERATE	7352/8358	I2451S	UTP20_HUMAN			Transcript		benign(0.066)	.	ENSP00000261637		CCDS9081.1			1	
STXBP4	0	LGGM	GRCh37	17	53063591	53063591	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	5	10	.	.	ENST00000376352.2:c.11A>G	p.Asn4Ser	p.N4S	ENST00000376352	NM_178509.5	4	aAt/aGt	0	1	1	UPI000050D3EE	0	NA	ENST00000376352		ENSG00000166263	19694		15	1.7		HGNC	p.N4S		STXBP4		SNV							ENST00000376352	protein_coding	getma.org/?cm=var&var=hg19,17,53063591,A,G&fts=all		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16		N/S		G	low	218/6243		getma.org/?cm=msa&ty=f&p=STXB4_HUMAN&rb=1&re=50&var=N4S	tolerated(0.15)				YES	STXBP4,missense_variant,p.Asn4Ser,ENST00000376352,NM_178509.5;STXBP4,missense_variant,p.Asn4Ser,ENST00000434978,;STXBP4,missense_variant,p.Asn4Ser,ENST00000405898,;STXBP4,5_prime_UTR_variant,,ENST00000398391,;STXBP4,5_prime_UTR_variant,,ENST00000299341,;STXBP4,non_coding_transcript_exon_variant,,ENST00000464340,;STXBP4,non_coding_transcript_exon_variant,,ENST00000461444,;							MODERATE	11/1662	N4S	STXB4_HUMAN			Transcript		benign(0.007)	.	ENSP00000365530		CCDS11584.2			1	
ZNF614	0	LGGM	GRCh37	19	52521721	52521721	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	25	11	.	.	ENST00000270649.6:c.42T>A	p.Ala14=	p.A14=	ENST00000270649	NM_025040.3	14	gcT/gcA	0	1	1	UPI0000202ADA	0		ENST00000270649		ENSG00000142556	24722		36			HGNC	p.A14A		ZNF614		SNV							ENST00000597952	protein_coding			Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF110,SMART_domains:SM00349		A		T		587/4818				M0QYG4_HUMAN			YES	ZNF614,synonymous_variant,p.=,ENST00000270649,NM_025040.3;ZNF614,synonymous_variant,p.=,ENST00000356322,;ZNF614,synonymous_variant,p.=,ENST00000597952,;ZNF614,synonymous_variant,p.=,ENST00000595189,;							LOW	42/1758		ZN614_HUMAN			Transcript			.	ENSP00000270649		CCDS12847.1			1	
SSUH2	0	LGGM	GRCh37	3	8672521	8672521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	7	11	.	.	ENST00000544814.1:c.495G>T	p.Lys165Asn	p.K165N	ENST00000544814	NM_001256748.1	165	aaG/aaT	0	1		UPI000006F08D	0	NA	ENST00000317371		ENSG00000125046	24809		18	2.36		HGNC	p.K165N		SSUH2		SNV							ENST00000427408	protein_coding	getma.org/?cm=var&var=hg19,3,8672521,C,A&fts=all		hmmpanther:PTHR15852,hmmpanther:PTHR15852:SF7		K/N		A	medium	1655/2561		getma.org/?cm=msa&ty=f&p=CC032_HUMAN&rb=1&re=200&var=K143N	deleterious(0.02)					SSUH2,missense_variant,p.Lys143Asn,ENST00000317371,;SSUH2,missense_variant,p.Lys143Asn,ENST00000341795,NM_015931.2,NM_001256749.1;SSUH2,missense_variant,p.Lys143Asn,ENST00000415132,;SSUH2,missense_variant,p.Lys165Asn,ENST00000544814,NM_001256748.1;SSUH2,missense_variant,p.Lys165Asn,ENST00000427408,;SSUH2,non_coding_transcript_exon_variant,,ENST00000492435,;SSUH2,downstream_gene_variant,,ENST00000484585,;SSUH2,downstream_gene_variant,,ENST00000466215,;SSUH2,downstream_gene_variant,,ENST00000483845,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;							MODERATE	429/1062	K143N	SSUH2_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000324551		CCDS2568.1			1	
TRIP12	0	LGGM	GRCh37	2	230723621	230723621	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	7	11	.	.	ENST00000283943.5:c.768C>T	p.Gly256=	p.G256=	ENST00000283943	NM_004238.1	256	ggC/ggT	0	1	1	UPI000013739D	0		ENST00000283943		ENSG00000153827	12306		18			HGNC	p.G298G		TRIP12		SNV							ENST00000409677	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF73		G		A		947/9874				Q57Z94_HUMAN,F8W9P3_HUMAN,C9JSX9_HUMAN,C9JLJ5_HUMAN			YES	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,intron_variant,,ENST00000389045,NM_001284216.1;TRIP12,intron_variant,,ENST00000453485,;TRIP12,downstream_gene_variant,,ENST00000430954,;TRIP12,downstream_gene_variant,,ENST00000435716,;TRIP12,downstream_gene_variant,,ENST00000428959,;TRIP12,downstream_gene_variant,,ENST00000343290,;TRIP12,non_coding_transcript_exon_variant,,ENST00000479037,;							LOW	768/5979		TRIPC_HUMAN			Transcript			.	ENSP00000283943		CCDS33391.1			1	
UBN2	0	LGGM	GRCh37	7	138966801	138966801	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	31	11	.	.	ENST00000473989.3:c.2118G>C	p.Lys706Asn	p.K706N	ENST00000473989	NM_173569.3	706	aaG/aaC	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		42	2.25		HGNC	p.K623N		UBN2		SNV							ENST00000288561	protein_coding	getma.org/?cm=var&var=hg19,7,138966801,G,C&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		K/N		C	medium	2118/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=665&re=790&var=K706N	tolerated_low_confidence(0.13)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Lys706Asn,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Lys623Asn,ENST00000288561,;UBN2,downstream_gene_variant,,ENST00000483726,;							MODERATE	2118/4044	K706N	UBN2_HUMAN			Transcript		benign(0.001)	.	ENSP00000418648		CCDS43655.2			1	
KIF27	0	LGGM	GRCh37	9	86530261	86530261	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	13	12	.	.	ENST00000297814.2:c.246C>A	p.Ala82=	p.A82=	ENST00000297814	NM_017576.2	82	gcC/gcA	0	1	1	UPI000018F32F	0		ENST00000297814		ENSG00000165115	18632		25			HGNC	p.A82A		KIF27		SNV							ENST00000334204	protein_coding			PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540,Prints_domain:PR00380		A		T		390/4653				B4DMY5_HUMAN			YES	KIF27,synonymous_variant,p.=,ENST00000297814,NM_017576.2;KIF27,synonymous_variant,p.=,ENST00000413982,NM_001271927.1;KIF27,synonymous_variant,p.=,ENST00000334204,NM_001271928.1;KIF27,synonymous_variant,p.=,ENST00000495062,;							LOW	246/4206		KIF27_HUMAN			Transcript			.	ENSP00000297814		CCDS6665.1			1	
ABCC3	0	LGGM	GRCh37	17	48750989	48750989	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	12	12	.	.	ENST00000285238.8:c.2569G>A	p.Asp857Asn	p.D857N	ENST00000285238	NM_003786.3	857	Gac/Aac	0	1	1	UPI000004B145	0	NA	ENST00000285238		ENSG00000108846	54		24	0.39		HGNC	p.D857N	COSM3519404	ABCC3		SNV						1	ENST00000285238	protein_coding	getma.org/?cm=var&var=hg19,17,48750989,G,A&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00957		D/N		A	neutral	2649/5716		getma.org/?cm=msa&ty=f&p=MRP3_HUMAN&rb=780&re=964&var=D857N	tolerated(0.36)	Q96QA9_HUMAN,Q2M3C9_HUMAN			YES	ABCC3,missense_variant,p.Asp857Asn,ENST00000285238,NM_003786.3;ABCC3,missense_variant,p.Asp6Asn,ENST00000513745,;ABCC3,non_coding_transcript_exon_variant,,ENST00000506464,;ABCC3,upstream_gene_variant,,ENST00000510891,;ABCC3,downstream_gene_variant,,ENST00000503304,;ABCC3,missense_variant,p.Asp857Asn,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000502426,;ABCC3,3_prime_UTR_variant,,ENST00000510633,;					1		MODERATE	2569/4584	D857N	MRP3_HUMAN			Transcript		benign(0.003)	.	ENSP00000285238		CCDS32681.1			1	
APBA2	0	LGGM	GRCh37	15	29385315	29385315	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	22	12	.	.	ENST00000558402.1:c.1107G>T	p.Gly369=	p.G369=	ENST00000558402		369	ggG/ggT	0	1		UPI0000046798	0		ENST00000558259		ENSG00000034053	579		34			HGNC	p.G369G		APBA2		SNV							ENST00000558330	protein_coding			Superfamily_domains:SSF50729,SMART_domains:SM00462,Gene3D:2.30.29.30,hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12,PROSITE_profiles:PS01179		G		T		1314/3635				H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN				APBA2,synonymous_variant,p.=,ENST00000558402,;APBA2,synonymous_variant,p.=,ENST00000558259,NM_005503.3;APBA2,synonymous_variant,p.=,ENST00000411764,NM_001130414.1;APBA2,synonymous_variant,p.=,ENST00000558330,;APBA2,synonymous_variant,p.=,ENST00000561069,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;APBA2,non_coding_transcript_exon_variant,,ENST00000382938,;							LOW	1107/2250		APBA2_HUMAN			Transcript			.	ENSP00000454171		CCDS10022.1			1	
SPINK5	0	LGGM	GRCh37	5	147449933	147449933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	9	12	.	.	ENST00000359874.3:c.129C>A	p.Phe43Leu	p.F43L	ENST00000359874	NM_001127698.1	43	ttC/ttA	0	1		UPI000020CF22	0	getma.org/pdb.php?prot=ISK5_HUMAN&from=28&to=66&var=F43L	ENST00000256084		ENSG00000133710	15464		21	1.79		HGNC	p.F43L		SPINK5		SNV			1				ENST00000256084	protein_coding	getma.org/?cm=var&var=hg19,5,147449933,C,A&fts=all		Gene3D:1.10.1890.10,hmmpanther:PTHR10913,hmmpanther:PTHR10913:SF10,Superfamily_domains:SSF100895		F/L		A	low	171/3535		getma.org/?cm=msa&ty=f&p=ISK5_HUMAN&rb=28&re=66&var=F43L	tolerated(0.37)					SPINK5,missense_variant,p.Phe43Leu,ENST00000359874,NM_001127698.1;SPINK5,missense_variant,p.Phe43Leu,ENST00000256084,NM_006846.3;SPINK5,missense_variant,p.Phe43Leu,ENST00000398454,NM_001127699.1;SPINK5,intron_variant,,ENST00000508733,;SPINK5,intron_variant,,ENST00000521206,;SPINK5,missense_variant,p.Phe43Leu,ENST00000476697,;SPINK5,non_coding_transcript_exon_variant,,ENST00000507988,;							MODERATE	129/3195	F43L	ISK5_HUMAN			Transcript		benign(0.012)	.	ENSP00000256084		CCDS43382.1			1	
CACNA1E	0	LGGM	GRCh37	1	181546990	181546990	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	42	13	.	.	ENST00000367573.2:c.601G>A	p.Val201Met	p.V201M	ENST00000367573	NM_001205293.1	201	Gtg/Atg	0	1	1	UPI00004588C2	0	getma.org/pdb.php?prot=CAC1E_HUMAN&from=127&to=350&var=V201M	ENST00000367573		ENSG00000198216	1392		55	2.79		HGNC	p.V201M	COSM1336822,COSM1336821	CACNA1E		SNV						1,1	ENST00000367570	protein_coding	getma.org/?cm=var&var=hg19,1,181546990,G,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57,Superfamily_domains:SSF81324		V/M		A	medium	601/7067		getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=127&re=350&var=V201M	deleterious(0)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.Val201Met,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Val152Met,ENST00000357570,;CACNA1E,missense_variant,p.Val201Met,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Val152Met,ENST00000358338,;CACNA1E,missense_variant,p.Val201Met,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Val201Met,ENST00000360108,;CACNA1E,missense_variant,p.Val201Met,ENST00000524607,;CACNA1E,5_prime_UTR_variant,,ENST00000367567,;CACNA1E,non_coding_transcript_exon_variant,,ENST00000533229,;					1,1		MODERATE	601/6942	V201M	CAC1E_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000356545		CCDS55664.1			1	
DGCR2	0	LGGM	GRCh37	22	19048448	19048448	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	22	14	.	.	ENST00000263196.7:c.625+2267A>G		*209*	ENST00000263196	NM_001184781.1			0	1	1	UPI0000001613	0		ENST00000263196		ENSG00000070413	2845		36			HGNC	p.M213V	rs771490468	DGCR2		SNV							ENST00000545799	protein_coding							C		-/4480	1.97E-05			B7Z8B7_HUMAN,B7Z3C4_HUMAN			YES	DGCR2,missense_variant,p.Met213Val,ENST00000545799,;DGCR2,intron_variant,,ENST00000263196,NM_001184781.1,NM_005137.2;DGCR2,intron_variant,,ENST00000537045,NM_001173533.1,NM_001173534.1;DGCR2,intron_variant,,ENST00000473832,;DGCR2,intron_variant,,ENST00000608548,;DGCR2,5_prime_UTR_variant,,ENST00000389262,;DGCR2,upstream_gene_variant,,ENST00000467659,;AC004461.4,downstream_gene_variant,,ENST00000412461,;							MODIFIER	-/1653		IDD_HUMAN			Transcript			.	ENSP00000263196	8.74E-06	CCDS33598.1			1	
ADAMTS18	0	LGGM	GRCh37	16	77396113	77396113	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	17	14	.	.	ENST00000282849.5:c.1105T>C	p.Cys369Arg	p.C369R	ENST00000282849	NM_199355.2	369	Tgt/Cgt	0	1	1	UPI0000233610	0	getma.org/pdb.php?prot=ATS18_HUMAN&from=294&to=498&var=C369R	ENST00000282849		ENSG00000140873	17110		31	3.145		HGNC	p.C369R		ADAMTS18		SNV			1				ENST00000282849	protein_coding	getma.org/?cm=var&var=hg19,16,77396113,A,G&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167,Superfamily_domains:SSF55486		C/R		G	medium	1524/5913		getma.org/?cm=msa&ty=f&p=ATS18_HUMAN&rb=294&re=498&var=C369R	deleterious(0)				YES	ADAMTS18,missense_variant,p.Cys369Arg,ENST00000282849,NM_199355.2;ADAMTS18,downstream_gene_variant,,ENST00000562345,;ADAMTS18,intron_variant,,ENST00000449265,;							MODERATE	1105/3666	C369R	ATS18_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000282849		CCDS10926.1			1	
CDK12	0	LGGM	GRCh37	17	37627464	37627464	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	31	15	.	.	ENST00000447079.4:c.1379C>G	p.Thr460Ser	p.T460S	ENST00000447079	NM_015083.1	460	aCt/aGt	0	1	1	UPI000013E688	0	NA	ENST00000447079		ENSG00000167258	24224		46	0.805		HGNC	p.T460S		CDK12		SNV							ENST00000430627	protein_coding	getma.org/?cm=var&var=hg19,17,37627464,C,G&fts=all				T/S		G	low	1412/8336		getma.org/?cm=msa&ty=f&p=CDK12_HUMAN&rb=412&re=528&var=T460S					YES	CDK12,missense_variant,p.Thr460Ser,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,missense_variant,p.Thr460Ser,ENST00000430627,;CDK12,missense_variant,p.Thr459Ser,ENST00000584632,;CDK12,upstream_gene_variant,,ENST00000581593,;							MODERATE	1379/4473	T460S	CDK12_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000398880		CCDS11337.1			1	
SLC44A5	0	LGGM	GRCh37	1	75862277	75862277	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	18	15	.	.	ENST00000370855.5:c.43G>A	p.Glu15Lys	p.E15K	ENST00000370855	NM_152697.4	15	Gag/Aag	0	1	1	UPI000013E195	0	NA	ENST00000370855		ENSG00000137968	28524		33	0.625		HGNC	p.E15K		SLC44A5		SNV							ENST00000370855	protein_coding	getma.org/?cm=var&var=hg19,1,75862277,C,T&fts=all		hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42		E/K		T	neutral	157/4406		getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=1&re=200&var=E15K	tolerated(0.57)	B7Z473_HUMAN			YES	SLC44A5,missense_variant,p.Glu15Lys,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Glu15Lys,ENST00000370859,NM_001130058.1;SLC44A5,5_prime_UTR_variant,,ENST00000535611,;SLC44A5,non_coding_transcript_exon_variant,,ENST00000469525,;							MODERATE	43/2160	E15K	CTL5_HUMAN			Transcript		benign(0.023)	.	ENSP00000359892		CCDS667.1			1	
WDR60	0	LGGM	GRCh37	7	158672416	158672416	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	45	16	.	.	ENST00000407559.3:c.615G>T	p.Trp205Cys	p.W205C	ENST00000407559	NM_018051.4	205	tgG/tgT	0	1	1	UPI000020E761	0	NA	ENST00000407559		ENSG00000126870	21862		61	1.04		HGNC	p.W205C		WDR60		SNV			1				ENST00000407559	protein_coding	getma.org/?cm=var&var=hg19,7,158672416,G,T&fts=all		hmmpanther:PTHR12442,hmmpanther:PTHR12442:SF30		W/C		T	low	773/3769		getma.org/?cm=msa&ty=f&p=WDR60_HUMAN&rb=201&re=400&var=W205C	tolerated(0.06)	H7C1E8_HUMAN,A4D230_HUMAN			YES	WDR60,missense_variant,p.Trp205Cys,ENST00000407559,NM_018051.4;WDR60,upstream_gene_variant,,ENST00000467220,;WDR60,upstream_gene_variant,,ENST00000444851,;							MODERATE	615/3201	W205C	WDR60_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000384290		CCDS47757.1			1	
MAP1B	0	LGGM	GRCh37	5	71489836	71489836	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	24	16	.	.	ENST00000296755.7:c.654T>C	p.Ser218=	p.S218=	ENST00000296755	NM_005909.3	218	tcT/tcC	0	1	1	UPI000013E382	0		ENST00000296755		ENSG00000131711	6836		40			HGNC	p.S218S		MAP1B		SNV							ENST00000296755	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		S		C		952/12034				D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,synonymous_variant,p.=,ENST00000504492,;MAP1B,synonymous_variant,p.=,ENST00000511641,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;							LOW	654/7407		MAP1B_HUMAN			Transcript			.	ENSP00000296755		CCDS4012.1			1	
BRINP3	0	LGGM	GRCh37	1	190067394	190067394	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	42	16	.	.	ENST00000367462.3:c.2055G>C	p.Leu685Phe	p.L685F	ENST00000367462	NM_199051.1	685	ttG/ttC	0	1	1	UPI00001C1D9A	0	NA	ENST00000367462		ENSG00000162670	22393		58	2.095		HGNC	p.L685F		BRINP3		SNV							ENST00000367462	protein_coding	getma.org/?cm=var&var=hg19,1,190067394,C,G&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		L/F		G	medium	2287/2889		getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=600&re=766&var=L685F	deleterious(0.03)				YES	BRINP3,missense_variant,p.Leu685Phe,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.Leu583Phe,ENST00000534846,;							MODERATE	2055/2301	L685F	BRNP3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000356432		CCDS1373.1			1	
SLITRK6	0	LGGM	GRCh37	13	86369666	86369666	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	14	16	.	.	ENST00000400286.2:c.978A>G	p.Gly326=	p.G326=	ENST00000400286	NM_032229.2	326	ggA/ggG	0	1	1	UPI000004C9D6	0		ENST00000400286		ENSG00000184564	23503		30			HGNC	p.G326G		SLITRK6		SNV			1				ENST00000400286	protein_coding			hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373		G		C		1577/4318							YES	SLITRK6,synonymous_variant,p.=,ENST00000400286,NM_032229.2;							LOW	978/2526		SLIK6_HUMAN			Transcript			.	ENSP00000383143		CCDS41903.1			1	
PCDHGA12	0	LGGM	GRCh37	5	140811137	140811137	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	20	17	.	.	ENST00000252085.3:c.811G>T	p.Glu271Ter	p.E271*	ENST00000252085	NM_003735.2	271	Gaa/Taa	0	1	1	UPI0000073EA1	0	NA	ENST00000252085		ENSG00000253159	8699		37	0		HGNC	p.E271X		PCDHGA12		SNV							ENST00000252085	protein_coding	getma.org/?cm=var&var=hg19,5,140811137,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		E/*		T	NA	953/4747		NA		Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA12,stop_gained,p.Glu271Ter,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;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;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,;							HIGH	811/2799	E271*	PCDGC_HUMAN			Transcript			.	ENSP00000252085		CCDS4260.1			1	
DIRC2	0	LGGM	GRCh37	3	122591405	122591405	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	21	17	.	.	ENST00000261038.5:c.1282A>G	p.Met428Val	p.M428V	ENST00000261038	NM_032839.2	428	Atg/Gtg	0	1	1	UPI0000073CC7	0	NA	ENST00000261038		ENSG00000138463	16628		38	1.39		HGNC	p.M428V		DIRC2		SNV							ENST00000261038	protein_coding	getma.org/?cm=var&var=hg19,3,122591405,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF0,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		M/V		G	low	1680/3596		getma.org/?cm=msa&ty=f&p=DIRC2_HUMAN&rb=1&re=476&var=M428V	tolerated(0.25)				YES	DIRC2,missense_variant,p.Met428Val,ENST00000261038,NM_032839.2;DIRC2,3_prime_UTR_variant,,ENST00000477647,;							MODERATE	1282/1437	M428V	DIRC2_HUMAN			Transcript		benign(0.001)	.	ENSP00000261038		CCDS3018.1			1	
ZSCAN5C	0	LGGM	GRCh37	19	56720260	56720260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	26	18	.	.	ENST00000534327.1:c.1182G>T	p.Met394Ile	p.M394I	ENST00000534327		394	atG/atT	0	1		UPI000041AA91	0		ENST00000376267		ENSG00000204532	34294		44			HGNC	p.M394I		ZSCAN5C		SNV							ENST00000534327	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF164,hmmpanther:PTHR10032,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		M/I		T		1182/1491			tolerated(0.86)					ZSCAN5C,missense_variant,p.Met394Ile,ENST00000534327,;ZSCAN5C,missense_variant,p.Met394Ile,ENST00000376267,;							MODERATE	1182/1491		ZSA5C_HUMAN			Transcript		benign(0.012)	.	ENSP00000365443					1	
ARPP21	0	LGGM	GRCh37	3	35833987	35833987	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	16	18	.	.	ENST00000458225.1:c.2149G>A	p.Val717Met	p.V717M	ENST00000458225		717	Gtg/Atg	0	1		UPI0000192731	0	NA	ENST00000187397		ENSG00000172995	16968	8.65E-05	34	0.2		HGNC	p.V697M	rs762995319	ARPP21		SNV							ENST00000444190	protein_coding	getma.org/?cm=var&var=hg19,3,35833987,G,A&fts=all		hmmpanther:PTHR15672:SF14,hmmpanther:PTHR15672		V/M		A	neutral	2602/3433	3.00E-05	getma.org/?cm=msa&ty=f&p=ARP21_HUMAN&rb=701&re=812&var=V716M	tolerated(0.92)	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN				ARPP21,missense_variant,p.Val716Met,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Val697Met,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Val717Met,ENST00000458225,;ARPP21,missense_variant,p.Val717Met,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Val697Met,ENST00000337271,;ARPP21,non_coding_transcript_exon_variant,,ENST00000476052,;ARPP21,non_coding_transcript_exon_variant,,ENST00000463970,;ARPP21,non_coding_transcript_exon_variant,,ENST00000473138,;ARPP21,3_prime_UTR_variant,,ENST00000457165,;							MODERATE	2146/2439	V716M	ARP21_HUMAN			Transcript		benign(0.005)	.	ENSP00000187397	2.47E-05	CCDS2661.1			1	
USP35	0	LGGM	GRCh37	11	77919953	77919953	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	30	18	.	.	ENST00000529308.1:c.1536G>C	p.Trp512Cys	p.W512C	ENST00000529308	NM_020798.2	512	tgG/tgC	0	1	1	UPI0000456553	0	getma.org/pdb.php?prot=UBP35_HUMAN&from=438&to=923&var=W512C	ENST00000529308		ENSG00000118369	20061		48	2.75		HGNC	p.W98C		USP35		SNV							ENST00000441408	protein_coding	getma.org/?cm=var&var=hg19,11,77919953,G,C&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF343,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		W/C		C	medium	1797/4216		getma.org/?cm=msa&ty=f&p=UBP35_HUMAN&rb=438&re=923&var=W512C	deleterious(0)	E9PRM2_HUMAN,E9PK78_HUMAN			YES	USP35,missense_variant,p.Trp512Cys,ENST00000529308,NM_020798.2;USP35,missense_variant,p.Trp243Cys,ENST00000526425,;USP35,missense_variant,p.Trp98Cys,ENST00000441408,;USP35,missense_variant,p.Trp80Cys,ENST00000530267,;USP35,missense_variant,p.Trp268Cys,ENST00000528910,;USP35,intron_variant,,ENST00000530535,;USP35,3_prime_UTR_variant,,ENST00000530546,;USP35,non_coding_transcript_exon_variant,,ENST00000530521,;							MODERATE	1536/3057	W512C	UBP35_HUMAN			Transcript		unknown(0)	.	ENSP00000431876		CCDS41693.1			1	
ZNF501	0	LGGM	GRCh37	3	44776298	44776298	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	13	18	.	.	ENST00000396048.2:c.385A>T	p.Thr129Ser	p.T129S	ENST00000396048	NM_145044.3	129	Act/Tct	0	1	1	UPI00005A76A1	0	getma.org/pdb.php?prot=ZN501_HUMAN&from=120&to=145&var=T129S	ENST00000396048		ENSG00000186446	23717		31	1.055		HGNC	p.T129S		ZNF501		SNV							ENST00000396048	protein_coding	getma.org/?cm=var&var=hg19,3,44776298,A,T&fts=all		Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24377,PROSITE_profiles:PS50157		T/S		T	low	822/3099		getma.org/?cm=msa&ty=f&p=ZN501_HUMAN&rb=100&re=165&var=T129S	deleterious_low_confidence(0.04)	Q15923_HUMAN			YES	ZNF501,missense_variant,p.Thr129Ser,ENST00000396048,NM_145044.3,NM_001258280.1;ZNF501,downstream_gene_variant,,ENST00000491543,;KIAA1143,downstream_gene_variant,,ENST00000484437,;ZNF501,downstream_gene_variant,,ENST00000484233,;ZNF501,downstream_gene_variant,,ENST00000486486,;							MODERATE	385/816	T129S	ZN501_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000379363		CCDS2720.2			1	
CPAMD8	0	LGGM	GRCh37	19	17056434	17056434	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	15	19	.	.	ENST00000443236.1:c.2859A>G	p.Lys953=	p.K953=	ENST00000443236	NM_015692.2	953	aaA/aaG	0	1	1	UPI0000E8AC99	0		ENST00000443236		ENSG00000160111	23228		34			HGNC	p.K953K	rs760523143,COSM992622	CPAMD8		SNV						0,1	ENST00000443236	protein_coding			hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76		K		C		2891/5992	1.50E-05						YES	CPAMD8,synonymous_variant,p.=,ENST00000443236,NM_015692.2;CPAMD8,downstream_gene_variant,,ENST00000593420,;					0,1		LOW	2859/5799		CPMD8_HUMAN			Transcript			.	ENSP00000402505	8.27E-06	CCDS42519.1			1	
STYXL1	0	LGGM	GRCh37	7	75625860	75625860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	7	19	.	.	ENST00000248600.1:c.868G>T	p.Val290Leu	p.V290L	ENST00000248600	NM_016086.2	290	Gtg/Ttg	0	1	1	UPI000012F694	0	getma.org/pdb.php?prot=STYL1_HUMAN&from=168&to=299&var=V290L	ENST00000248600		ENSG00000127952	18165		26	1.305		HGNC	p.V290L		STYXL1		SNV							ENST00000431581	protein_coding	getma.org/?cm=var&var=hg19,7,75625860,C,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF292,SMART_domains:SM00195,Superfamily_domains:SSF52799		V/L		A	low	1211/1415		getma.org/?cm=msa&ty=f&p=STYL1_HUMAN&rb=168&re=299&var=V290L	tolerated(0.12)				YES	STYXL1,missense_variant,p.Val290Leu,ENST00000248600,NM_016086.2;STYXL1,missense_variant,p.Val290Leu,ENST00000359697,;STYXL1,missense_variant,p.Val290Leu,ENST00000431581,;STYXL1,missense_variant,p.Val194Leu,ENST00000340062,;STYXL1,missense_variant,p.Gly207Val,ENST00000454618,;STYXL1,3_prime_UTR_variant,,ENST00000360591,;STYXL1,downstream_gene_variant,,ENST00000451157,;TMEM120A,upstream_gene_variant,,ENST00000338761,;TMEM120A,upstream_gene_variant,,ENST00000417509,;TMEM120A,upstream_gene_variant,,ENST00000440632,;TMEM120A,upstream_gene_variant,,ENST00000439537,;TMEM120A,upstream_gene_variant,,ENST00000431867,;TMEM120A,upstream_gene_variant,,ENST00000485200,;TMEM120A,upstream_gene_variant,,ENST00000485581,;STYXL1,3_prime_UTR_variant,,ENST00000438695,;STYXL1,3_prime_UTR_variant,,ENST00000430497,;TMEM120A,upstream_gene_variant,,ENST00000480538,;TMEM120A,upstream_gene_variant,,ENST00000465494,;TMEM120A,upstream_gene_variant,,ENST00000493111,NM_031925.2;							MODERATE	868/942	V290L	STYL1_HUMAN			Transcript		possibly_damaging(0.631)	.	ENSP00000248600		CCDS5580.1			1	
CEP350	0	LGGM	GRCh37	1	180061821	180061821	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	42	20	.	.	ENST00000367607.3:c.6581A>T	p.Glu2194Val	p.E2194V	ENST00000367607	NM_014810.4	2194	gAa/gTa	0	1	1	UPI000013CFC5	0	NA	ENST00000367607		ENSG00000135837	24238		62	0.55		HGNC	p.E2194V		CEP350		SNV							ENST00000367607	protein_coding	getma.org/?cm=var&var=hg19,1,180061821,A,T&fts=all		hmmpanther:PTHR13958		E/V		T	neutral	6999/13491		getma.org/?cm=msa&ty=f&p=CE350_HUMAN&rb=2180&re=2379&var=E2194V		Q5T2X4_HUMAN			YES	CEP350,missense_variant,p.Glu2194Val,ENST00000367607,NM_014810.4;CEP350,missense_variant,p.Glu369Val,ENST00000429851,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;							MODERATE	6581/9354	E2194V	CE350_HUMAN			Transcript		benign(0.027)	.	ENSP00000356579		CCDS1336.1			1	
ABCC12	0	LGGM	GRCh37	16	48162407	48162407	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	39	21	.	.	ENST00000311303.3:c.1478A>T	p.Lys493Ile	p.K493I	ENST00000311303	NM_033226.2	493	aAa/aTa	0	1	1	UPI0000456987	0	getma.org/pdb.php?prot=MRP9_HUMAN&from=467&to=701&var=K493I	ENST00000311303		ENSG00000140798	14640		60	1.185		HGNC	p.K493I		ABCC12		SNV							ENST00000532494	protein_coding	getma.org/?cm=var&var=hg19,16,48162407,T,A&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,Superfamily_domains:SSF52540		K/I		A	low	1824/5168		getma.org/?cm=msa&ty=f&p=MRP9_HUMAN&rb=467&re=701&var=K493I	tolerated(0.15)	E9PHY2_HUMAN			YES	ABCC12,missense_variant,p.Lys493Ile,ENST00000311303,NM_033226.2;ABCC12,missense_variant,p.Lys493Ile,ENST00000416054,;ABCC12,missense_variant,p.Lys493Ile,ENST00000448542,;ABCC12,missense_variant,p.Lys493Ile,ENST00000529084,;ABCC12,missense_variant,p.Lys435Ile,ENST00000534418,;ABCC12,missense_variant,p.Lys493Ile,ENST00000497206,;ABCC12,missense_variant,p.Lys493Ile,ENST00000532494,;ABCC12,missense_variant,p.Lys493Ile,ENST00000529504,;ABCC12,non_coding_transcript_exon_variant,,ENST00000528693,;							MODERATE	1478/4080	K493I	MRP9_HUMAN			Transcript		benign(0.004)	.	ENSP00000311030		CCDS10730.1			1	
ALKBH8	0	LGGM	GRCh37	11	107403025	107403025	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	24	22	.	.	ENST00000428149.2:c.878+1G>T		p.X293_splice	ENST00000428149	NM_138775.2			0	1		UPI0000EE3A38	0		ENST00000389568		ENSG00000137760	25189		46			HGNC	-		ALKBH8		SNV							ENST00000428149	protein_coding							A		-/2491								ALKBH8,splice_donor_variant,,ENST00000428149,NM_138775.2;ALKBH8,splice_donor_variant,,ENST00000389568,;ALKBH8,splice_donor_variant,,ENST00000417449,;ALKBH8,intron_variant,,ENST00000429370,;ALKBH8,splice_donor_variant,,ENST00000260318,;ALKBH8,downstream_gene_variant,,ENST00000393100,;							HIGH	878/1995		ALKB8_HUMAN			Transcript			.	ENSP00000374219		CCDS8337.2			1	
FAT3	0	LGGM	GRCh37	11	92590487	92590487	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	41	23	.	.	ENST00000298047.6:c.11473C>A	p.Pro3825Thr	p.P3825T	ENST00000298047		3825	Cca/Aca	0	1	1	UPI000050B6C6	0	NA	ENST00000298047		ENSG00000165323	23112		64	2.24		HGNC	p.P3675T		FAT3		SNV							ENST00000525166	protein_coding	getma.org/?cm=var&var=hg19,11,92590487,C,A&fts=all		Gene3D:2.60.120.200,PROSITE_profiles:PS50026,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00181,Superfamily_domains:SSF49899		P/T		A	medium	11490/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=3795&re=3833&var=P3825T		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Pro3825Thr,ENST00000298047,;FAT3,missense_variant,p.Pro3825Thr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Pro3675Thr,ENST00000525166,;FAT3,missense_variant,p.Pro160Thr,ENST00000533797,;							MODERATE	11473/13770	P3825T	FAT3_HUMAN			Transcript		possibly_damaging(0.652)	.	ENSP00000298047					1	
INTS2	0	LGGM	GRCh37	17	59968952	59968952	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	43	23	.	.	ENST00000444766.3:c.1821G>T	p.Ala607=	p.A607=	ENST00000444766	NM_020748.2	607	gcG/gcT	0	1	1	UPI0000E5A03A	0		ENST00000444766		ENSG00000108506	29241		66			HGNC	p.A607A		INTS2		SNV							ENST00000444766	protein_coding			Pfam_domain:PF14750		A		A		1897/5878				J3KRH0_HUMAN,J3KMZ7_HUMAN			YES	INTS2,synonymous_variant,p.=,ENST00000444766,NM_020748.2;INTS2,synonymous_variant,p.=,ENST00000251334,;INTS2,non_coding_transcript_exon_variant,,ENST00000578805,;							LOW	1821/3615		INT2_HUMAN			Transcript			.	ENSP00000414237		CCDS45750.1			1	
ASNSD1	0	LGGM	GRCh37	2	190531883	190531883	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	42	24	.	.	ENST00000260952.4:c.1025A>G	p.His342Arg	p.H342R	ENST00000260952	NM_019048.2	342	cAt/cGt	0	1	1	UPI000013D120	0	NA	ENST00000260952		ENSG00000138381	24910		66	2.99		HGNC	p.H342R		ASNSD1		SNV							ENST00000260952	protein_coding	getma.org/?cm=var&var=hg19,2,190531883,A,G&fts=all		hmmpanther:PTHR11772:SF3,hmmpanther:PTHR11772,Pfam_domain:PF00733,Gene3D:3.40.50.620,Superfamily_domains:SSF52402		H/R		G	medium	1438/2450		getma.org/?cm=msa&ty=f&p=ASND1_HUMAN&rb=288&re=601&var=H342R	deleterious(0.02)	C9J6C1_HUMAN,C9IYZ1_HUMAN			YES	ASNSD1,missense_variant,p.His342Arg,ENST00000260952,NM_019048.2;ASNSD1,missense_variant,p.His342Arg,ENST00000420250,;ASNSD1,intron_variant,,ENST00000607062,;ASNSD1,intron_variant,,ENST00000606910,;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,;							MODERATE	1025/1932	H342R	ASND1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000260952		CCDS2300.1			1	
ZDBF2	0	LGGM	GRCh37	2	207175935	207175935	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	33	24	.	.	ENST00000374423.3:c.6683C>T	p.Ser2228Leu	p.S2228L	ENST00000374423	NM_020923.1	2228	tCg/tTg	0	1	1	UPI000022BDE3	0	NA	ENST00000374423		ENSG00000204186	29313		57	1.355		HGNC	p.S2228L	rs781279011,COSM442188,COSM442189	ZDBF2	0.00013	SNV				0.000109		0,1,1	ENST00000374423	protein_coding	getma.org/?cm=var&var=hg19,2,207175935,C,T&fts=all		hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		S/L		T	low	7069/10282	3.28E-05	getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=S2228L	tolerated(0.66)	N0DVB2_HUMAN			YES	ZDBF2,missense_variant,p.Ser2228Leu,ENST00000374423,NM_020923.1,NM_001285549.1;					0,1,1		MODERATE	6683/7065	S2228L	ZDBF2_HUMAN			Transcript		benign(0.32)	.	ENSP00000363545	4.14E-05	CCDS46501.1			1	
FBN2	0	LGGM	GRCh37	5	127595257	127595257	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	27	24	.	.	ENST00000508053.1:c.8629C>A	p.Leu2877Ile	p.L2877I	ENST00000508053		2877	Ctc/Atc	0	1		UPI0000519468	0	NA	ENST00000262464		ENSG00000138829	3604		51	2.135		HGNC	p.L2877I		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127595257,G,T&fts=all		PIRSF_domain:PIRSF036312,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Low_complexity_(Seg):seg		L/I		T	medium	9068/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=2870&re=2912&var=L2877I	tolerated(0.08)					FBN2,missense_variant,p.Leu2877Ile,ENST00000508053,;FBN2,missense_variant,p.Leu2877Ile,ENST00000262464,NM_001999.3;							MODERATE	8629/8739	L2877I	FBN2_HUMAN			Transcript		benign(0.151)	.	ENSP00000262464		CCDS34222.1			1	
BCAT1	0	LGGM	GRCh37	12	25031471	25031471	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	34	25	.	.	ENST00000539282.1:c.539G>C	p.Gly180Ala	p.G180A	ENST00000539282	NM_001178093.1	180	gGa/gCa	0	1		UPI0000213DBE	0	getma.org/pdb.php?prot=BCAT1_HUMAN&from=111&to=361&var=G168A	ENST00000261192		ENSG00000060982	976		59	0.645		HGNC	p.G180A		BCAT1		SNV							ENST00000539282	protein_coding	getma.org/?cm=var&var=hg19,12,25031471,C,G&fts=all		Gene3D:3.30.470.10,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF29,Superfamily_domains:SSF56752,TIGRFAM_domain:TIGR01123		G/A		G	neutral	1030/8335		getma.org/?cm=msa&ty=f&p=BCAT1_HUMAN&rb=111&re=361&var=G168A	tolerated(0.14)					BCAT1,missense_variant,p.Gly168Ala,ENST00000261192,NM_005504.6,NM_001178091.1;BCAT1,missense_variant,p.Gly167Ala,ENST00000538118,NM_001178094.1;BCAT1,missense_variant,p.Gly107Ala,ENST00000342945,NM_001178092.1;BCAT1,missense_variant,p.Gly180Ala,ENST00000539282,NM_001178093.1;BCAT1,missense_variant,p.Gly131Ala,ENST00000539780,;BCAT1,missense_variant,p.Gly144Ala,ENST00000546285,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;							MODERATE	503/1161	G168A	BCAT1_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000261192		CCDS44845.1			1	
ARHGAP29	0	LGGM	GRCh37	1	94640255	94640255	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	26	26	.	.	ENST00000260526.6:c.2956del	p.Ile986Ter	p.I986*	ENST00000260526	NM_004815.3	986	Ata/ta	0	1	1	UPI000013D0E4	0		ENST00000260526		ENSG00000137962	30207		52			HGNC	p.I986X		ARHGAP29		deletion							ENST00000260526	protein_coding			hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF7		I/X		-		3139/6087							YES	ARHGAP29,frameshift_variant,p.Ile986Ter,ENST00000260526,NM_004815.3;ARHGAP29,downstream_gene_variant,,ENST00000482481,;ARHGAP29,frameshift_variant,p.Ile986Ter,ENST00000552844,;							HIGH	2956/3786		RHG29_HUMAN			Transcript			.	ENSP00000260526		CCDS748.1			1	
CACNA1E	0	LGGM	GRCh37	1	181764088	181764088	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	62	26	.	.	ENST00000367573.2:c.6116T>C	p.Met2039Thr	p.M2039T	ENST00000367573	NM_001205293.1	2039	aTg/aCg	0	1	1	UPI00004588C2	0	NA	ENST00000367573		ENSG00000198216	1392		88	0.345		HGNC	p.M1603T	rs376416157	CACNA1E		SNV	C:0						ENST00000367567	protein_coding	getma.org/?cm=var&var=hg19,1,181764088,T,C&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF57		M/T	C:0.0001	C	neutral	6116/7067	3.00E-05	getma.org/?cm=msa&ty=f&p=CAC1E_HUMAN&rb=1895&re=2094&var=M2039T	deleterious(0)	Q9UN68_HUMAN,Q9NYZ6_HUMAN,Q9NY05_HUMAN,E9PIE8_HUMAN			YES	CACNA1E,missense_variant,p.Met1977Thr,ENST00000526775,NM_001205294.1;CACNA1E,missense_variant,p.Met1990Thr,ENST00000357570,;CACNA1E,missense_variant,p.Met1996Thr,ENST00000367570,NM_000721.3;CACNA1E,missense_variant,p.Met1603Thr,ENST00000367567,;CACNA1E,missense_variant,p.Met1928Thr,ENST00000358338,;CACNA1E,missense_variant,p.Met2039Thr,ENST00000367573,NM_001205293.1;CACNA1E,missense_variant,p.Met2020Thr,ENST00000360108,;							MODERATE	6116/6942	M2039T	CAC1E_HUMAN			Transcript		benign(0.184)	.	ENSP00000356545	1.65E-05	CCDS55664.1			1	
WDR66	0	LGGM	GRCh37	12	122396243	122396243	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	30	26	.	.	ENST00000288912.4:c.1796A>G	p.Glu599Gly	p.E599G	ENST00000288912	NM_144668.5	599	gAg/gGg	0	1	1	UPI00001AEB2C	0	NA	ENST00000288912		ENSG00000158023	28506		56	1.845		HGNC	p.E599G		WDR66		SNV							ENST00000288912	protein_coding	getma.org/?cm=var&var=hg19,12,122396243,A,G&fts=all		hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Gene3D:2.130.10.10,SMART_domains:SM00320		E/G		G	low	2650/4467		getma.org/?cm=msa&ty=f&p=WDR66_HUMAN&rb=597&re=634&var=E599G	deleterious(0)				YES	WDR66,missense_variant,p.Glu599Gly,ENST00000288912,NM_144668.5;WDR66,missense_variant,p.Glu599Gly,ENST00000397454,NM_001178003.1;WDR66,upstream_gene_variant,,ENST00000545752,;WDR66,non_coding_transcript_exon_variant,,ENST00000543211,;WDR66,non_coding_transcript_exon_variant,,ENST00000535257,;							MODERATE	1796/3450	E599G	WDR66_HUMAN			Transcript		possibly_damaging(0.686)	.	ENSP00000288912		CCDS41853.1			1	
TUBA3C	0	LGGM	GRCh37	13	19751437	19751437	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	32	29	.	.	ENST00000400113.3:c.686G>A	p.Arg229His	p.R229H	ENST00000400113	NM_006001.2	229	cGc/cAc	0	1	1	UPI0000027DB1	0		ENST00000400113		ENSG00000198033	12408		61			HGNC	p.R229H	rs770472651	TUBA3C	6.06E-05	SNV							ENST00000400113	protein_coding			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490		R/H		T		791/1551			deleterious_low_confidence(0.01)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN			YES	TUBA3C,missense_variant,p.Arg229His,ENST00000400113,NM_006001.2;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;							MODERATE	686/1353		TBA3C_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000382982	8.24E-06	CCDS9284.1			1	
CCDC8	0	LGGM	GRCh37	19	46915204	46915204	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	33	29	.	.	ENST00000307522.3:c.864G>T	p.Gly288=	p.G288=	ENST00000307522	NM_032040.4	288	ggG/ggT	0	1	1	UPI00000730F2	0		ENST00000307522		ENSG00000169515	25367		62			HGNC	p.G288G		CCDC8		SNV			1				ENST00000307522	protein_coding			hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2		G		A		1638/3213							YES	CCDC8,synonymous_variant,p.=,ENST00000307522,NM_032040.4;							LOW	864/1617		CCDC8_HUMAN			Transcript			.	ENSP00000303158		CCDS12685.1			1	
C2orf80	0	LGGM	GRCh37	2	209047689	209047689	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	25	30	.	.	ENST00000341287.4:c.206T>A	p.Leu69Gln	p.L69Q	ENST00000341287	NM_001099334.2	69	cTg/cAg	0	1	1	UPI00001D7E1A	0	NA	ENST00000341287		ENSG00000188674	34352		55	0		HGNC	p.L50Q		C2orf80		SNV							ENST00000451346	protein_coding	getma.org/?cm=var&var=hg19,2,209047689,A,T&fts=all				L/Q		T	neutral	402/1238		getma.org/?cm=msa&ty=f&p=CB080_HUMAN&rb=1&re=170&var=L69Q	deleterious(0.01)	C9JTX0_HUMAN,C9JAS9_HUMAN			YES	C2orf80,missense_variant,p.Leu69Gln,ENST00000341287,NM_001099334.2;C2orf80,missense_variant,p.Leu50Gln,ENST00000451346,;C2orf80,missense_variant,p.Leu21Gln,ENST00000428015,;C2orf80,missense_variant,p.Leu69Gln,ENST00000453017,;C2orf80,splice_region_variant,,ENST00000423952,;C2orf80,upstream_gene_variant,,ENST00000451342,;C2orf80,downstream_gene_variant,,ENST00000449053,;							MODERATE	206/582	L69Q	CB080_HUMAN			Transcript		benign(0.33)	.	ENSP00000343171		CCDS42809.1			1	
PCNT	0	LGGM	GRCh37	21	47783593	47783593	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	32	30	.	.	ENST00000359568.5:c.2353A>G	p.Ile785Val	p.I785V	ENST00000359568	NM_006031.5	785	Atc/Gtc	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		62	0.895		HGNC	p.I785V	rs772309220	PCNT		SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47783593,A,G&fts=all		hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		I/V		G	low	2460/10560		getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=781&re=1299&var=I785V					YES	PCNT,missense_variant,p.Ile785Val,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;							MODERATE	2353/10011	I785V	PCNT_HUMAN			Transcript		benign(0.002)	.	ENSP00000352572		CCDS33592.1			1	
SDCBP	0	LGGM	GRCh37	8	59484814	59484814	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	61	31	.	.	ENST00000260130.4:c.181T>G	p.Leu61Val	p.L61V	ENST00000260130	NM_001007068.1	61	Tta/Gta	0	1	1	UPI000013570E	0	NA	ENST00000260130		ENSG00000137575	10662		92	2.56		HGNC	p.L55V		SDCBP		SNV							ENST00000424270	protein_coding	getma.org/?cm=var&var=hg19,8,59484814,T,G&fts=all		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF10		L/V		G	medium	331/2167		getma.org/?cm=msa&ty=f&p=SDCB1_HUMAN&rb=1&re=113&var=L61V	tolerated(0.07)				YES	SDCBP,missense_variant,p.Leu82Val,ENST00000523483,;SDCBP,missense_variant,p.Leu61Val,ENST00000260130,NM_001007068.1,NM_005625.3,NM_001007069.1;SDCBP,missense_variant,p.Leu61Val,ENST00000422546,NM_001007067.1,NM_001007070.1;SDCBP,missense_variant,p.Leu61Val,ENST00000447182,;SDCBP,missense_variant,p.Leu61Val,ENST00000413219,;SDCBP,missense_variant,p.Leu55Val,ENST00000424270,;SDCBP,missense_variant,p.Leu61Val,ENST00000520168,;SDCBP,missense_variant,p.Leu61Val,ENST00000447267,;SDCBP,non_coding_transcript_exon_variant,,ENST00000522243,;SDCBP,non_coding_transcript_exon_variant,,ENST00000519115,;SDCBP,non_coding_transcript_exon_variant,,ENST00000522843,;SDCBP,non_coding_transcript_exon_variant,,ENST00000520228,;							MODERATE	181/897	L61V	SDCB1_HUMAN			Transcript		benign(0.136)	.	ENSP00000260130		CCDS6172.1			1	
NIPBL	0	LGGM	GRCh37	5	36984817	36984817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	35	34	.	.	ENST00000282516.8:c.1535A>G	p.Gln512Arg	p.Q512R	ENST00000282516	NM_133433.3	512	cAg/cGg	0	1	1	UPI00003761B5	0	NA	ENST00000282516		ENSG00000164190	28862		69	0.895		HGNC	p.Q512R		NIPBL		SNV			1				ENST00000282516	protein_coding	getma.org/?cm=var&var=hg19,5,36984817,A,G&fts=all		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18		Q/R		G	low	2034/10435		getma.org/?cm=msa&ty=f&p=NIPBL_HUMAN&rb=401&re=600&var=Q512R	tolerated_low_confidence(0.07)	A2RRA7_HUMAN			YES	NIPBL,missense_variant,p.Gln512Arg,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,missense_variant,p.Gln512Arg,ENST00000448238,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;							MODERATE	1535/8415	Q512R	NIPBL_HUMAN			Transcript		benign(0.232)	.	ENSP00000282516		CCDS3920.1			1	
VWA3A	0	LGGM	GRCh37	16	22162081	22162081	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	34	34	.	.	ENST00000389398.5:c.3195C>T	p.Ser1065=	p.S1065=	ENST00000389398	NM_173615.3	1065	agC/agT	0	1	1	UPI0001663067	0		ENST00000389398		ENSG00000175267	27088		68			HGNC	p.S167S		VWA3A		SNV							ENST00000563755	protein_coding			Gene3D:3.40.50.410,Pfam_domain:PF13768,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,SMART_domains:SM00327,Superfamily_domains:SSF53300		S		T		3291/4600				H3BTX3_HUMAN			YES	VWA3A,synonymous_variant,p.=,ENST00000389397,;VWA3A,synonymous_variant,p.=,ENST00000389398,NM_173615.3;VWA3A,synonymous_variant,p.=,ENST00000563755,;VWA3A,3_prime_UTR_variant,,ENST00000299840,;							LOW	3195/3555		VWA3A_HUMAN			Transcript			.	ENSP00000374049		CCDS45441.1			1	
PGBD1	0	LGGM	GRCh37	6	28269645	28269645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093295	H093295N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	61	35	.	.	ENST00000405948.2:c.2014G>A	p.Gly672Arg	p.G672R	ENST00000405948	NM_001184743.1	672	Ggg/Agg	0	1		UPI000006ED63	0	NA	ENST00000259883		ENSG00000137338	19398		96	2.28		HGNC	p.G672R		PGBD1		SNV							ENST00000259883	protein_coding	getma.org/?cm=var&var=hg19,6,28269645,G,A&fts=all		Pfam_domain:PF13843		G/R		A	medium	2419/3100		getma.org/?cm=msa&ty=f&p=PGBD1_HUMAN&rb=418&re=775&var=G672R	deleterious(0.03)					PGBD1,missense_variant,p.Gly672Arg,ENST00000405948,NM_001184743.1,NM_032507.3;PGBD1,missense_variant,p.Gly672Arg,ENST00000259883,;							MODERATE	2014/2430	G672R	PGBD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000259883		CCDS4648.1			1	
BAZ2B	0	LGGM	GRCh37	2	160289583	160289583	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	29	36	.	.	ENST00000392783.2:c.1585A>T	p.Thr529Ser	p.T529S	ENST00000392783	NM_013450.2	529	Acc/Tcc	0	1	1	UPI0000D74C4A	0	NA	ENST00000392783		ENSG00000123636	963		65	0.69		HGNC	p.T527S		BAZ2B		SNV							ENST00000343439	protein_coding	getma.org/?cm=var&var=hg19,2,160289583,T,A&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144		T/S		A	neutral	2081/8289		getma.org/?cm=msa&ty=f&p=BAZ2B_HUMAN&rb=1&re=603&var=T529S		Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,missense_variant,p.Thr529Ser,ENST00000392783,NM_013450.2;BAZ2B,missense_variant,p.Thr527Ser,ENST00000392782,;BAZ2B,missense_variant,p.Thr529Ser,ENST00000355831,;BAZ2B,missense_variant,p.Thr527Ser,ENST00000343439,;BAZ2B,upstream_gene_variant,,ENST00000441143,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000472953,;BAZ2B,downstream_gene_variant,,ENST00000467184,;							MODERATE	1585/6507	T529S	BAZ2B_HUMAN			Transcript		benign(0.292)	.	ENSP00000376534		CCDS2209.2			1	
PLCB4	0	LGGM	GRCh37	20	9434006	9434006	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093295	H093295N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	31	36	.	.	ENST00000378501.2:c.2857A>G	p.Met953Val	p.M953V	ENST00000378501	NM_000933.3	953	Atg/Gtg	0	1		UPI0000131A94	0	NA	ENST00000278655		ENSG00000101333	9059		67	0.14		HGNC	p.M953V		PLCB4		SNV			1				ENST00000334005	protein_coding	getma.org/?cm=var&var=hg19,20,9434006,A,G&fts=all		Superfamily_domains:0053448,Gene3D:1jadA00,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06631,PIRSF_domain:PIRSF000956,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF78		M/V		G	neutral	2935/5430		getma.org/?cm=msa&ty=f&p=PLCB4_HUMAN&rb=909&re=955&var=M953V	tolerated(0.56)	B1AJW4_HUMAN,B1AJW3_HUMAN,B1AJW2_HUMAN,B1AJW1_HUMAN				PLCB4,missense_variant,p.Met953Val,ENST00000378501,NM_000933.3;PLCB4,missense_variant,p.Met953Val,ENST00000378493,;PLCB4,missense_variant,p.Met953Val,ENST00000334005,;PLCB4,missense_variant,p.Met965Val,ENST00000378473,NM_001172646.1;PLCB4,missense_variant,p.Met953Val,ENST00000278655,NM_182797.2;PLCB4,missense_variant,p.Met965Val,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,;							MODERATE	2857/3528	M953V	PLCB4_HUMAN			Transcript		benign(0.004)	.	ENSP00000278655		CCDS13105.1			1	
SEMA6C	0	LGGM	GRCh37	1	151109450	151109450	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	23	47	.	.	ENST00000368913.3:c.857A>G	p.Asn286Ser	p.N286S	ENST00000368913	NM_001178061.1	286	aAc/aGc	0	1		UPI000015FC79	0	getma.org/pdb.php?prot=SEM6C_HUMAN&from=63&to=485&var=N286S	ENST00000341697		ENSG00000143434	10740		70	3.185		HGNC	p.N286S		SEMA6C		SNV							ENST00000368914	protein_coding	getma.org/?cm=var&var=hg19,1,151109450,T,C&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF11,SMART_domains:SM00630,Superfamily_domains:SSF101912		N/S		C	medium	2549/5262		getma.org/?cm=msa&ty=f&p=SEM6C_HUMAN&rb=63&re=485&var=N286S	deleterious(0)	Q9UFI1_HUMAN,O60650_HUMAN				SEMA6C,missense_variant,p.Asn286Ser,ENST00000341697,;SEMA6C,missense_variant,p.Asn286Ser,ENST00000368914,NM_030913.4;SEMA6C,missense_variant,p.Asn286Ser,ENST00000368913,NM_001178061.1;SEMA6C,missense_variant,p.Asn246Ser,ENST00000368912,NM_001178062.1;SEMA6C,upstream_gene_variant,,ENST00000479820,;SEMA6C,upstream_gene_variant,,ENST00000464018,;SEMA6C,upstream_gene_variant,,ENST00000489944,;SEMA6C,downstream_gene_variant,,ENST00000485745,;							MODERATE	857/2793	N286S	SEM6C_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000344148		CCDS984.1			1	
IFRG15	0	LGGM	GRCh37	1	179834198	179834198	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093295	H093295N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	128	59	.	.	ENST00000553856.1:c.114A>T	p.Val38=	p.V38=	ENST00000553856	NM_022347.3	38	gtA/gtT	0	1	1	UPI000004EE71	0		ENST00000553856		ENSG00000258664			187			Uniprot_gn	p.V38V		IFRG15		SNV							ENST00000553856	protein_coding					V		A		114/396							YES	IFRG15,synonymous_variant,p.=,ENST00000553856,NM_022347.3;TOR1AIP2,intron_variant,,ENST00000367612,NM_145034.4;TOR1AIP2,intron_variant,,ENST00000609928,NM_001199260.1;TOR1AIP2,non_coding_transcript_exon_variant,,ENST00000482587,;TOR1AIP2,downstream_gene_variant,,ENST00000474318,;TOR1AIP2,downstream_gene_variant,,ENST00000495650,;							LOW	114/396		IFG15_HUMAN			Transcript			.	ENSP00000452581		CCDS53439.1			1	
MUC17	0	LGGM	GRCh37	7	100684044	100684044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093295	H093295N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093295N.bam, H093295T.bam	Illumina HiSeq	139	70	.	.	ENST00000306151.4:c.9347C>A	p.Pro3116Gln	p.P3116Q	ENST00000306151	NM_001040105.1	3116	cCg/cAg	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		209	0.695		HGNC	p.P3116Q		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100684044,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	neutral	9411/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=P3116Q		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Pro3116Gln,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Pro3116Gln,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;							MODERATE	9347/13482	P3116Q	MUC17_HUMAN			Transcript		benign(0)	.	ENSP00000302716		CCDS34711.1			1	
MCOLN1	0	LGGM	GRCh37	19	7593796	7593796	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	25	3	.	.	ENST00000264079.6:c.1074C>A	p.Leu358=	p.L358=	ENST00000264079	NM_020533.2	358	ctC/ctA	0	1	1	UPI00000377A2	0		ENST00000264079		ENSG00000090674	13356		28			HGNC	p.L358L		MCOLN1		SNV			1				ENST00000264079	protein_coding			hmmpanther:PTHR12127,hmmpanther:PTHR12127:SF6,Transmembrane_helices:TMhelix		L		A		1199/2082				B4DFZ1_HUMAN			YES	MCOLN1,synonymous_variant,p.=,ENST00000264079,NM_020533.2;MCOLN1,downstream_gene_variant,,ENST00000601003,;MCOLN1,upstream_gene_variant,,ENST00000599334,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000394321,;MCOLN1,non_coding_transcript_exon_variant,,ENST00000595860,;MCOLN1,downstream_gene_variant,,ENST00000596390,;CTD-2207O23.10,upstream_gene_variant,,ENST00000601870,;MCOLN1,downstream_gene_variant,,ENST00000596008,;MCOLN1,downstream_gene_variant,,ENST00000598406,;MCOLN1,upstream_gene_variant,,ENST00000602227,;MCOLN1,upstream_gene_variant,,ENST00000594692,;							LOW	1074/1743		MCLN1_HUMAN			Transcript			.	ENSP00000264079		CCDS12180.1			1	
UNC5B	0	LGGM	GRCh37	10	73057723	73057723	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	41	3	.	.	ENST00000335350.6:c.2548C>A	p.Gln850Lys	p.Q850K	ENST00000335350	NM_170744.4	850	Cag/Aag	0	1	1	UPI000000D753	0	getma.org/pdb.php?prot=UNC5B_HUMAN&from=844&to=863&var=Q850K	ENST00000335350		ENSG00000107731	12568		44	2.135		HGNC	p.Q850K		UNC5B		SNV							ENST00000335350	protein_coding	getma.org/?cm=var&var=hg19,10,73057723,C,A&fts=all		hmmpanther:PTHR12582:SF6,hmmpanther:PTHR12582,Gene3D:1.10.533.10		Q/K		A	medium	2964/6841		getma.org/?cm=msa&ty=f&p=UNC5B_HUMAN&rb=814&re=893&var=Q850K	tolerated(0.29)				YES	UNC5B,missense_variant,p.Gln850Lys,ENST00000335350,NM_170744.4;UNC5B,missense_variant,p.Gln839Lys,ENST00000373192,NM_001244889.1;							MODERATE	2548/2838	Q850K	UNC5B_HUMAN			Transcript		benign(0.001)	.	ENSP00000334329		CCDS7309.1			1	
GCH1	0	LGGM	GRCh37	14	55332104	55332104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	21	3	.	.	ENST00000491895.2:c.394G>T	p.Val132Leu	p.V132L	ENST00000491895	NM_000161.2	132	Gtg/Ttg	0	1		UPI0000001289	0	getma.org/pdb.php?prot=GCH1_HUMAN&from=1&to=146&var=V132L	ENST00000395514		ENSG00000131979	4193		24	1.32		HGNC	p.V132L		GCH1		SNV			1				ENST00000395514	protein_coding	getma.org/?cm=var&var=hg19,14,55332104,C,A&fts=all		Gene3D:3.30.1130.10,HAMAP:MF_00223,Pfam_domain:PF01227,PROSITE_patterns:PS00859,hmmpanther:PTHR11109,hmmpanther:PTHR11109:SF3,Superfamily_domains:SSF55620,TIGRFAM_domain:TIGR00063		V/L		A	low	555/1977		getma.org/?cm=msa&ty=f&p=GCH1_HUMAN&rb=1&re=146&var=V132L	deleterious(0.02)	Q96T74_HUMAN,Q8IZH9_HUMAN				GCH1,missense_variant,p.Val132Leu,ENST00000491895,NM_000161.2;GCH1,missense_variant,p.Val132Leu,ENST00000395514,NM_001024024.1;GCH1,missense_variant,p.Val132Leu,ENST00000543643,NM_001024070.1;GCH1,missense_variant,p.Val132Leu,ENST00000536224,NM_001024071.1;GCH1,non_coding_transcript_exon_variant,,ENST00000254299,;GCH1,non_coding_transcript_exon_variant,,ENST00000395521,;							MODERATE	394/753	V132L	GCH1_HUMAN			Transcript		possibly_damaging(0.717)	.	ENSP00000378890		CCDS9720.1			1	
RMND5A	0	LGGM	GRCh37	2	86968163	86968163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	32	3	.	.	ENST00000283632.4:c.256G>T	p.Val86Phe	p.V86F	ENST00000283632	NM_022780.3	86	Gtt/Ttt	0	1	1	UPI000000DC2B	0	NA	ENST00000283632		ENSG00000153561	25850		35	2.25		HGNC	p.V86F		RMND5A		SNV							ENST00000283632	protein_coding	getma.org/?cm=var&var=hg19,2,86968163,G,T&fts=all		hmmpanther:PTHR12170,hmmpanther:PTHR12170:SF5		V/F		T	medium	751/6301		getma.org/?cm=msa&ty=f&p=RMD5A_HUMAN&rb=56&re=152&var=V86F	deleterious(0)	B4DZV7_HUMAN			YES	RMND5A,missense_variant,p.Val86Phe,ENST00000283632,NM_022780.3;							MODERATE	256/1176	V86F	RMD5A_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000283632		CCDS1991.1			1	
PCBP1	0	LGGM	GRCh37	2	70315822	70315822	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	42	3	.	.	ENST00000303577.5:c.947C>T	p.Ala316Val	p.A316V	ENST00000303577	NM_006196.3	316	gCc/gTc	0	1	1	UPI000000029F	0	getma.org/pdb.php?prot=PCBP1_HUMAN&from=281&to=343&var=A316V	ENST00000303577		ENSG00000169564	8647		45	1.87		HGNC	p.A316V	COSM4095324	PCBP1		SNV						1	ENST00000303577	protein_coding	getma.org/?cm=var&var=hg19,2,70315822,C,T&fts=all		Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF96,SMART_domains:SM00322,Superfamily_domains:SSF54791		A/V		T	low	1238/1748		getma.org/?cm=msa&ty=f&p=PCBP1_HUMAN&rb=281&re=343&var=A316V	deleterious(0)	Q53SS8_HUMAN			YES	PCBP1,missense_variant,p.Ala316Val,ENST00000303577,NM_006196.3;AC016700.2,upstream_gene_variant,,ENST00000455541,;PCBP1-AS1,non_coding_transcript_exon_variant,,ENST00000596028,;PCBP1-AS1,upstream_gene_variant,,ENST00000416395,;PCBP1-AS1,upstream_gene_variant,,ENST00000435880,;PCBP1-AS1,upstream_gene_variant,,ENST00000439670,;PCBP1-AS1,upstream_gene_variant,,ENST00000458698,;PCBP1-AS1,upstream_gene_variant,,ENST00000442040,;PCBP1-AS1,upstream_gene_variant,,ENST00000429599,;PCBP1-AS1,upstream_gene_variant,,ENST00000458686,;PCBP1-AS1,upstream_gene_variant,,ENST00000366234,;PCBP1-AS1,upstream_gene_variant,,ENST00000456161,;PCBP1-AS1,upstream_gene_variant,,ENST00000596665,;PCBP1-AS1,upstream_gene_variant,,ENST00000596573,;PCBP1-AS1,upstream_gene_variant,,ENST00000437019,;PCBP1-AS1,upstream_gene_variant,,ENST00000413791,;PCBP1-AS1,upstream_gene_variant,,ENST00000421255,;PCBP1-AS1,upstream_gene_variant,,ENST00000594548,;PCBP1-AS1,upstream_gene_variant,,ENST00000601396,;PCBP1-AS1,upstream_gene_variant,,ENST00000599673,;PCBP1-AS1,upstream_gene_variant,,ENST00000421843,;PCBP1-AS1,upstream_gene_variant,,ENST00000595459,;PCBP1-AS1,upstream_gene_variant,,ENST00000413436,;PCBP1-AS1,upstream_gene_variant,,ENST00000422515,;PCBP1-AS1,upstream_gene_variant,,ENST00000437456,;PCBP1-AS1,upstream_gene_variant,,ENST00000444320,;PCBP1-AS1,upstream_gene_variant,,ENST00000439892,;PCBP1-AS1,upstream_gene_variant,,ENST00000420309,;PCBP1-AS1,upstream_gene_variant,,ENST00000432604,;PCBP1-AS1,upstream_gene_variant,,ENST00000418308,;PCBP1-AS1,upstream_gene_variant,,ENST00000434781,;PCBP1-AS1,upstream_gene_variant,,ENST00000419963,;PCBP1-AS1,upstream_gene_variant,,ENST00000415742,;PCBP1-AS1,upstream_gene_variant,,ENST00000413069,;PCBP1-AS1,upstream_gene_variant,,ENST00000416068,;PCBP1-AS1,upstream_gene_variant,,ENST00000444410,;PCBP1-AS1,upstream_gene_variant,,ENST00000423402,;PCBP1-AS1,upstream_gene_variant,,ENST00000411429,;PCBP1-AS1,upstream_gene_variant,,ENST00000457770,;PCBP1-AS1,upstream_gene_variant,,ENST00000418564,;PCBP1-AS1,upstream_gene_variant,,ENST00000425333,;PCBP1-AS1,upstream_gene_variant,,ENST00000425601,;PCBP1-AS1,upstream_gene_variant,,ENST00000452431,;PCBP1-AS1,upstream_gene_variant,,ENST00000457076,;PCBP1-AS1,upstream_gene_variant,,ENST00000449178,;PCBP1-AS1,upstream_gene_variant,,ENST00000415060,;PCBP1-AS1,upstream_gene_variant,,ENST00000415222,;PCBP1-AS1,upstream_gene_variant,,ENST00000609075,;PCBP1-AS1,upstream_gene_variant,,ENST00000610168,;					1		MODERATE	947/1071	A316V	PCBP1_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000305556		CCDS1898.1			1	
LRP1	0	LGGM	GRCh37	12	57579568	57579568	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	27	3	.	.	ENST00000243077.3:c.6718G>T	p.Ala2240Ser	p.A2240S	ENST00000243077	NM_002332.2	2240	Gcc/Tcc	0	1	1	UPI00001B044F	0	getma.org/pdb.php?prot=LRP1_HUMAN&from=2062&to=2261&var=A2240S	ENST00000243077		ENSG00000123384	6692		30	1.32		HGNC	p.A2240S		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57579568,G,T&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,Superfamily_domains:SSF63825		A/S		T	low	7184/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=2062&re=2261&var=A2240S		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Ala2240Ser,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000554118,;							MODERATE	6718/13635	A2240S	LRP1_HUMAN			Transcript		benign(0.021)	.	ENSP00000243077		CCDS8932.1			1	
COL4A2	0	LGGM	GRCh37	13	111109746	111109746	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	14	3	.	.	ENST00000360467.5:c.1396G>T	p.Gly466Cys	p.G466C	ENST00000360467	NM_001846.2	466	Ggc/Tgc	0	1	1	UPI000041C713	0	NA	ENST00000360467		ENSG00000134871	2203		17	4.35		HGNC	p.G466C		COL4A2		SNV			1				ENST00000360467	protein_coding	getma.org/?cm=var&var=hg19,13,111109746,G,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023		G/C		T	high	1702/6281		getma.org/?cm=msa&ty=f&p=CO4A2_HUMAN&rb=423&re=483&var=G466C		A2A352_HUMAN			YES	COL4A2,missense_variant,p.Gly466Cys,ENST00000360467,NM_001846.2;COL4A2-AS2,intron_variant,,ENST00000458403,;COL4A2,upstream_gene_variant,,ENST00000478681,;							MODERATE	1396/5139	G466C	CO4A2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000353654		CCDS41907.1			1	
TMEM87A	0	LGGM	GRCh37	15	42565491	42565491	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	24	3	.	.	ENST00000389834.4:c.106G>T	p.Ala36Ser	p.A36S	ENST00000389834	NM_015497.3	36	Gct/Tct	0	1	1	UPI0000073A7E	0	NA	ENST00000389834		ENSG00000103978	24522		27	0.695		HGNC	p.A36S		TMEM87A		SNV							ENST00000569075	protein_coding	getma.org/?cm=var&var=hg19,15,42565491,C,A&fts=all		hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF10		A/S		A	neutral	371/3109		getma.org/?cm=msa&ty=f&p=TM87A_HUMAN&rb=1&re=166&var=A36S	tolerated(0.13)	H3BPJ4_HUMAN,H3BMU0_HUMAN,H3BM87_HUMAN			YES	TMEM87A,missense_variant,p.Ala36Ser,ENST00000389834,NM_015497.3;TMEM87A,missense_variant,p.Ala36Ser,ENST00000307216,NM_001110503.1;TMEM87A,5_prime_UTR_variant,,ENST00000448392,NM_001286487.1;GANC,5_prime_UTR_variant,,ENST00000561871,;GANC,5_prime_UTR_variant,,ENST00000562170,;GANC,upstream_gene_variant,,ENST00000318010,NM_198141.2;GANC,upstream_gene_variant,,ENST00000566442,;GANC,upstream_gene_variant,,ENST00000440615,;GANC,upstream_gene_variant,,ENST00000562859,;TMEM87A,upstream_gene_variant,,ENST00000568400,;TMEM87A,upstream_gene_variant,,ENST00000563371,;TMEM87A,upstream_gene_variant,,ENST00000568432,;TMEM87A,upstream_gene_variant,,ENST00000566474,;TMEM87A,upstream_gene_variant,,ENST00000561578,;TMEM87A,missense_variant,p.Ala36Ser,ENST00000569075,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000562946,;GANC,upstream_gene_variant,,ENST00000567421,;GANC,upstream_gene_variant,,ENST00000570013,;GANC,upstream_gene_variant,,ENST00000567784,;GANC,upstream_gene_variant,,ENST00000568687,;							MODERATE	106/1668	A36S	TM87A_HUMAN			Transcript		benign(0.219)	.	ENSP00000374484		CCDS32205.1			1	
RND3	0	LGGM	GRCh37	2	151326690	151326690	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	46	3	.	.	ENST00000375734.2:c.546G>T	p.Ser182=	p.S182=	ENST00000375734	NM_001254738.1	182	tcG/tcT	0	1		UPI0000003FE9	0		ENST00000263895		ENSG00000115963	671		49			HGNC	p.S182S		RND3		SNV							ENST00000375734	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF24,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540		S		A		730/2711				Q6FGN7_HUMAN,Q53RZ3_HUMAN,Q4ZFY0_HUMAN,E9PFH1_HUMAN,B4DSG7_HUMAN				RND3,synonymous_variant,p.=,ENST00000375734,NM_001254738.1;RND3,synonymous_variant,p.=,ENST00000263895,NM_005168.4;RND3,synonymous_variant,p.=,ENST00000409557,;RND3,downstream_gene_variant,,ENST00000439275,;RND3,downstream_gene_variant,,ENST00000454202,;RND3,downstream_gene_variant,,ENST00000472416,;RND3,non_coding_transcript_exon_variant,,ENST00000497865,;RND3,non_coding_transcript_exon_variant,,ENST00000473639,;RND3,downstream_gene_variant,,ENST00000466334,;							LOW	546/735		RND3_HUMAN			Transcript			.	ENSP00000263895		CCDS2190.1			1	
CELSR1	0	LGGM	GRCh37	22	46930312	46930312	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	9	3	.	.	ENST00000262738.3:c.2756G>T	p.Arg919Leu	p.R919L	ENST00000262738	NM_014246.1	919	cGg/cTg	0	1	1	UPI0000040648	0	getma.org/pdb.php?prot=CELR1_HUMAN&from=897&to=990&var=R919L	ENST00000262738		ENSG00000075275	1850		12	0.5		HGNC	p.R919L		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46930312,C,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268		R/L		A	neutral	2756/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=897&re=990&var=R919L	deleterious(0.01)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.Arg919Leu,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Arg919Leu,ENST00000395964,;CELSR1,missense_variant,p.Arg294Leu,ENST00000454637,;CELSR1,upstream_gene_variant,,ENST00000497509,;							MODERATE	2756/9045	R919L	CELR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262738		CCDS14076.1			1	
BHLHE40	0	LGGM	GRCh37	3	5024795	5024795	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	31	3	.	.	ENST00000256495.3:c.657C>A	p.Cys219Ter	p.C219*	ENST00000256495	NM_003670.2	219	tgC/tgA	0	1	1	UPI0000126923	0	NA	ENST00000256495		ENSG00000134107	1046		34	0		HGNC	p.C219X		BHLHE40		SNV							ENST00000256495	protein_coding	getma.org/?cm=var&var=hg19,3,5024795,C,A&fts=all		hmmpanther:PTHR10985,hmmpanther:PTHR10985:SF3		C/*		A	NA	1260/3473		NA		Q6IB83_HUMAN			YES	BHLHE40,stop_gained,p.Cys219Ter,ENST00000256495,NM_003670.2;BHLHE40-AS1,upstream_gene_variant,,ENST00000420832,;BHLHE40-AS1,upstream_gene_variant,,ENST00000434530,;BHLHE40-AS1,upstream_gene_variant,,ENST00000441386,;BHLHE40,non_coding_transcript_exon_variant,,ENST00000467610,;BHLHE40,downstream_gene_variant,,ENST00000460806,;							HIGH	657/1239	C219*	BHE40_HUMAN			Transcript			.	ENSP00000256495		CCDS2565.1			1	
RIMKLA	0	LGGM	GRCh37	1	42880366	42880366	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	38	3	.	.	ENST00000431473.3:c.897C>A	p.Thr299=	p.T299=	ENST00000431473	NM_173642.3	299	acC/acA	0	1	1	UPI0000160ABF	0		ENST00000431473		ENSG00000177181	28725		41			HGNC	p.T299T		RIMKLA		SNV							ENST00000431473	protein_coding			Superfamily_domains:SSF56059,hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF1,PROSITE_profiles:PS50975		T		A		1026/8909							YES	RIMKLA,synonymous_variant,p.=,ENST00000431473,NM_173642.3;RIMKLA,downstream_gene_variant,,ENST00000410070,;RP11-157D18.2,upstream_gene_variant,,ENST00000411908,;							LOW	897/1176		RIMKA_HUMAN			Transcript			.	ENSP00000414330		CCDS466.2			1	
ALOXE3	0	LGGM	GRCh37	17	8014745	8014745	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	43	4	.	.	ENST00000318227.3:c.1285C>T	p.Leu429=	p.L429=	ENST00000318227	NM_001165960.1	429	Ctg/Ttg	0	1		UPI00000477E4	0		ENST00000448843		ENSG00000179148	13743		47			HGNC	p.L297L		ALOXE3		SNV			1				ENST00000448843	protein_coding			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF40,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:3.10.450.60,Superfamily_domains:SSF48484		L		A		1230/3203								ALOXE3,synonymous_variant,p.=,ENST00000380149,;ALOXE3,synonymous_variant,p.=,ENST00000448843,NM_021628.2;ALOXE3,synonymous_variant,p.=,ENST00000318227,NM_001165960.1;							LOW	889/2136		LOXE3_HUMAN			Transcript			.	ENSP00000400581		CCDS11130.1			1	
KRTAP9-9	0	LGGM	GRCh37	17	39411789	39411789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	86	4	.	.	ENST00000394008.1:c.152G>T	p.Cys51Phe	p.C51F	ENST00000394008	NM_030975.2	51	tGc/tTc	0	1	1	UPI00002264BA	0	NA	ENST00000394008		ENSG00000198083	16773		90	3.055		HGNC	p.C51F		KRTAP9-9		SNV							ENST00000394008	protein_coding	getma.org/?cm=var&var=hg19,17,39411789,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF36,hmmpanther:PTHR23262,Pfam_domain:PF13885		C/F		T	medium	154/981		getma.org/?cm=msa&ty=f&p=B5MDD6_HUMAN&rb=27&re=84&var=C51F	deleterious(0)	B5MDD6_HUMAN			YES	KRTAP9-9,missense_variant,p.Cys51Phe,ENST00000394008,NM_030975.2;KRTAP9-4,downstream_gene_variant,,ENST00000334109,NM_033191.2;							MODERATE	152/510	C51F				Transcript		unknown(0)	.	ENSP00000377576		CCDS54127.1			1	
KRTAP9-9	0	LGGM	GRCh37	17	39411777	39411777	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	93	4	.	.	ENST00000394008.1:c.140G>T	p.Cys47Phe	p.C47F	ENST00000394008	NM_030975.2	47	tGc/tTc	0	1	1	UPI00002264BA	0	NA	ENST00000394008		ENSG00000198083	16773		97	2.865		HGNC	p.C47F		KRTAP9-9		SNV							ENST00000394008	protein_coding	getma.org/?cm=var&var=hg19,17,39411777,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF36,hmmpanther:PTHR23262,Pfam_domain:PF13885		C/F		T	medium	142/981		getma.org/?cm=msa&ty=f&p=B5MDD6_HUMAN&rb=27&re=84&var=C47F	deleterious(0.01)	B5MDD6_HUMAN			YES	KRTAP9-9,missense_variant,p.Cys47Phe,ENST00000394008,NM_030975.2;KRTAP9-4,downstream_gene_variant,,ENST00000334109,NM_033191.2;							MODERATE	140/510	C47F				Transcript		unknown(0)	.	ENSP00000377576		CCDS54127.1			1	
CCDC30	0	LGGM	GRCh37	1	43110392	43110392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	73	4	.	.	ENST00000428554.2:c.1804C>A	p.Gln602Lys	p.Q602K	ENST00000428554		602	Caa/Aaa	0	1		UPI0000458A0B	0	NA	ENST00000340612		ENSG00000186409	26103		77	1.65		HGNC	p.Q602K		CCDC30		SNV							ENST00000342022	protein_coding	getma.org/?cm=var&var=hg19,1,43110392,C,A&fts=all				Q/K		A	low	1804/2664		getma.org/?cm=msa&ty=f&p=CCD30_HUMAN&rb=571&re=782&var=Q602K	tolerated(0.09)	D6RFH8_HUMAN				CCDC30,missense_variant,p.Gln602Lys,ENST00000428554,;CCDC30,missense_variant,p.Gln602Lys,ENST00000342022,NM_001080850.2;CCDC30,missense_variant,p.Gln602Lys,ENST00000340612,;CCDC30,missense_variant,p.Gln391Lys,ENST00000507855,;CCDC30,missense_variant,p.Gln391Lys,ENST00000390640,;CCDC30,missense_variant,p.Gln300Lys,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;							MODERATE	1804/2352	Q602K	CCD30_HUMAN			Transcript		possibly_damaging(0.487)	.	ENSP00000340378		CCDS30690.1			1	
VWDE	0	LGGM	GRCh37	7	12395826	12395826	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	16	4	.	.	ENST00000275358.3:c.3656T>A	p.Ile1219Asn	p.I1219N	ENST00000275358	NM_001135924.1	1219	aTt/aAt	0	1	1	UPI00006C0B98	0	getma.org/pdb.php?prot=VWDE_HUMAN&from=1118&to=1312&var=I1219N	ENST00000275358		ENSG00000146530	21897		20	1.615		HGNC	p.I1219N		VWDE		SNV							ENST00000275358	protein_coding	getma.org/?cm=var&var=hg19,7,12395826,A,T&fts=all		Superfamily_domains:SSF57196,Gene3D:2.10.25.10,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67		I/N		T	low	3845/5260		getma.org/?cm=msa&ty=f&p=VWDE_HUMAN&rb=1118&re=1312&var=I1219N	deleterious(0.04)				YES	VWDE,missense_variant,p.Ile1219Asn,ENST00000275358,NM_001135924.1;VWDE,missense_variant,p.Ile1219Asn,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;							MODERATE	3656/4773	I1219N	VWDE_HUMAN			Transcript		benign(0.157)	.	ENSP00000275358		CCDS47544.1			1	
GNAS	0	LGGM	GRCh37	20	57478846	57478846	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	79	4	.	.	ENST00000371085.3:c.432C>A	p.Pro144=	p.P144=	ENST00000371085	NM_000516.4	144	ccC/ccA	0	1		UPI0000001247	0		ENST00000371085		ENSG00000087460	4392		83			HGNC	p.P145P		GNAS		SNV			1				ENST00000354359	protein_coding			hmmpanther:PTHR10218:SF36,hmmpanther:PTHR10218,Pfam_domain:PF00503,Gene3D:1.10.400.10,SMART_domains:SM00275,Superfamily_domains:SSF47895		P		A		856/1972				S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN				GNAS,splice_region_variant,p.=,ENST00000371100,NM_001077490.1,NM_080425.2;GNAS,splice_region_variant,p.=,ENST00000371102,;GNAS,splice_region_variant,,ENST00000313949,;GNAS,splice_region_variant,,ENST00000371075,NM_016592.2;GNAS,splice_region_variant,p.=,ENST00000354359,NM_001077488.2;GNAS,splice_region_variant,p.=,ENST00000371085,NM_000516.4;GNAS,splice_region_variant,p.=,ENST00000371095,;GNAS,splice_region_variant,p.=,ENST00000265620,NM_001077489.2,NM_080426.2;GNAS,splice_region_variant,p.=,ENST00000306090,;GNAS,splice_region_variant,,ENST00000419558,;GNAS,splice_region_variant,p.=,ENST00000604005,;GNAS,splice_region_variant,p.=,ENST00000450130,;GNAS,splice_region_variant,p.=,ENST00000349036,;GNAS,splice_region_variant,p.=,ENST00000603546,;GNAS,downstream_gene_variant,,ENST00000371098,;GNAS,downstream_gene_variant,,ENST00000423897,;GNAS,downstream_gene_variant,,ENST00000371081,;GNAS,downstream_gene_variant,,ENST00000338783,;GNAS,downstream_gene_variant,,ENST00000453292,;GNAS,splice_region_variant,,ENST00000464624,;GNAS,splice_region_variant,,ENST00000477931,;GNAS,splice_region_variant,,ENST00000480975,;GNAS,splice_region_variant,,ENST00000488652,;GNAS,splice_region_variant,,ENST00000470512,;GNAS,splice_region_variant,,ENST00000472183,;GNAS,splice_region_variant,,ENST00000488546,;GNAS,splice_region_variant,,ENST00000480232,;GNAS,splice_region_variant,,ENST00000476935,;GNAS,splice_region_variant,,ENST00000492907,;GNAS,splice_region_variant,,ENST00000481039,;GNAS,splice_region_variant,,ENST00000467321,;GNAS,splice_region_variant,,ENST00000485673,;GNAS,splice_region_variant,,ENST00000482112,;GNAS,splice_region_variant,,ENST00000469431,;GNAS,splice_region_variant,,ENST00000490374,;GNAS,splice_region_variant,,ENST00000464788,;GNAS,splice_region_variant,,ENST00000468895,;GNAS,splice_region_variant,,ENST00000494081,;GNAS,splice_region_variant,,ENST00000478585,;GNAS,splice_region_variant,,ENST00000467227,;GNAS,splice_region_variant,,ENST00000493958,;GNAS,downstream_gene_variant,,ENST00000481768,;GNAS,downstream_gene_variant,,ENST00000491348,;GNAS,downstream_gene_variant,,ENST00000464960,;GNAS,downstream_gene_variant,,ENST00000493744,;GNAS,downstream_gene_variant,,ENST00000484504,;GNAS,downstream_gene_variant,,ENST00000462499,;GNAS,downstream_gene_variant,,ENST00000461152,;GNAS,splice_region_variant,,ENST00000496934,;GNAS,splice_region_variant,,ENST00000476196,;GNAS,splice_region_variant,,ENST00000487862,;GNAS,splice_region_variant,,ENST00000487981,;GNAS,downstream_gene_variant,,ENST00000483387,;							LOW	432/1185		GNAS2_HUMAN			Transcript			.	ENSP00000360126		CCDS13472.1			1	
RARS2	0	LGGM	GRCh37	6	88228445	88228445	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	20	5	.	.	ENST00000369536.5:c.1318T>G	p.Leu440Val	p.L440V	ENST00000369536	NM_020320.3	440	Tta/Gta	0	1	1	UPI000020D2E6	0	getma.org/pdb.php?prot=SYRM_HUMAN&from=101&to=449&var=L440V	ENST00000369536		ENSG00000146282	21406		25	1.1		HGNC	p.L440V	rs760327372	RARS2		SNV			1				ENST00000369536	protein_coding	getma.org/?cm=var&var=hg19,6,88228445,A,C&fts=all		hmmpanther:PTHR11956:SF3,hmmpanther:PTHR11956,Pfam_domain:PF00750,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00456,Superfamily_domains:SSF52374		L/V		C	low	1364/1818	4.50E-05	getma.org/?cm=msa&ty=f&p=SYRM_HUMAN&rb=101&re=449&var=L440V	tolerated(0.37)	H0UI22_HUMAN			YES	RARS2,missense_variant,p.Leu440Val,ENST00000369536,NM_020320.3;RARS2,non_coding_transcript_exon_variant,,ENST00000497828,;RARS2,upstream_gene_variant,,ENST00000493269,;							MODERATE	1318/1737	L440V	SYRM_HUMAN			Transcript		benign(0.003)	.	ENSP00000358549	2.47E-05	CCDS5011.1			1	
GPR132	0	LGGM	GRCh37	14	105517516	105517516	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	11	5	.	.	ENST00000329797.3:c.958T>C	p.Ser320Pro	p.S320P	ENST00000329797	NM_013345.3	320	Tcc/Ccc	0	1	1	UPI0000050461	0	NA	ENST00000329797		ENSG00000183484	17482		16	0.895		HGNC	p.S320P		GPR132		SNV							ENST00000539291	protein_coding	getma.org/?cm=var&var=hg19,14,105517516,A,G&fts=all		hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF2,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01563		S/P		G	low	1870/3658		getma.org/?cm=msa&ty=f&p=GP132_HUMAN&rb=309&re=380&var=S320P	tolerated(0.19)	A8K7X7_HUMAN			YES	GPR132,missense_variant,p.Ser320Pro,ENST00000329797,NM_013345.3,NM_001278696.1,NM_001278694.1;GPR132,missense_variant,p.Ser311Pro,ENST00000392585,NM_001278695.1;GPR132,missense_variant,p.Ser320Pro,ENST00000539291,;GPR132,downstream_gene_variant,,ENST00000549990,;GPR132,downstream_gene_variant,,ENST00000546679,;GPR132,3_prime_UTR_variant,,ENST00000551869,;							MODERATE	958/1143	S320P	GP132_HUMAN			Transcript		possibly_damaging(0.514)	.	ENSP00000328818		CCDS9997.1			1	
CUX1	0	LGGM	GRCh37	7	101921278	101921278	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	7	5	.	.	ENST00000292538.4:c.1622G>A	p.Arg541His	p.R541H	ENST00000292538	NM_001913.3	541	cGc/cAc	0	1	1	UPI00001A95D6	0	NA	ENST00000437600		ENSG00000257923	2557		12	2.32		HGNC	p.R555H	rs781850770	CUX1	0.000149	SNV							ENST00000560541	protein_coding	getma.org/?cm=var&var=hg19,7,101921278,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08172,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF15		R/H		A	medium	1968/3250		getma.org/?cm=msa&ty=f&p=CASP_HUMAN&rb=421&re=647&var=R541H	tolerated(0.06)	Q75MT4_HUMAN				CUX1,missense_variant,p.Arg539His,ENST00000437600,NM_181500.2;CUX1,missense_variant,p.Arg541His,ENST00000292538,NM_001913.3;CUX1,missense_variant,p.Arg525His,ENST00000547394,NM_001202544.1;CUX1,missense_variant,p.Arg495His,ENST00000425244,NM_001202545.1;CUX1,missense_variant,p.Arg502His,ENST00000393824,NM_001202546.1;CUX1,missense_variant,p.Arg104His,ENST00000487284,;CUX1,non_coding_transcript_exon_variant,,ENST00000560541,;CUX1,non_coding_transcript_exon_variant,,ENST00000558836,;							MODERATE	1616/2031	R541H	CASP_HUMAN			Transcript		benign(0.111)	.	ENSP00000414091	1.65E-05	CCDS47672.1			1	
SIN3B	0	LGGM	GRCh37	19	16973293	16973293	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	10	5	.	.	ENST00000379803.1:c.1189A>G	p.Ile397Val	p.I397V	ENST00000379803	NM_015260.2	397	Ata/Gta	0	1	1	UPI0000425EFA	0	NA	ENST00000379803		ENSG00000127511	19354		15	0		HGNC	p.I397V		SIN3B		SNV							ENST00000248054	protein_coding	getma.org/?cm=var&var=hg19,19,16973293,A,G&fts=all		Pfam_domain:PF08295,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1,SMART_domains:SM00761		I/V		G	neutral	1203/5129		getma.org/?cm=msa&ty=f&p=SIN3B_HUMAN&rb=393&re=448&var=I397V	deleterious(0.01)				YES	SIN3B,missense_variant,p.Ile397Val,ENST00000379803,NM_015260.2;SIN3B,missense_variant,p.Ile397Val,ENST00000248054,;SIN3B,missense_variant,p.Ile209Val,ENST00000596638,;SIN3B,upstream_gene_variant,,ENST00000595541,;SIN3B,upstream_gene_variant,,ENST00000599880,;SIN3B,upstream_gene_variant,,ENST00000594372,;							MODERATE	1189/3489	I397V	SIN3B_HUMAN			Transcript		benign(0.034)	.	ENSP00000369131		CCDS32946.1			1	
CRISP2	0	LGGM	GRCh37	6	49667525	49667525	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	13	6	.	.	ENST00000339139.4:c.263G>A	p.Arg88His	p.R88H	ENST00000339139	NM_001261822.1	88	cGc/cAc	0	1	1	UPI000013728C	0	getma.org/pdb.php?prot=CRIS2_HUMAN&from=41&to=169&var=R88H	ENST00000339139		ENSG00000124490	12024		19	3.135		HGNC	p.R88H	rs532707585,COSM1202291	CRISP2	6.20E-05	SNV						0,1	ENST00000339139	protein_coding	getma.org/?cm=var&var=hg19,6,49667525,C,T&fts=all	T:0	Superfamily_domains:SSF55797,SMART_domains:SM00198,Gene3D:3.40.33.10,Pfam_domain:PF00188,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF154		R/H		T	medium	500/1382		getma.org/?cm=msa&ty=f&p=CRIS2_HUMAN&rb=41&re=169&var=R88H	deleterious(0)	Q5U8Z9_HUMAN	T:0	T:0	YES	CRISP2,missense_variant,p.Arg88His,ENST00000339139,NM_001261822.1,NM_001142435.2,NM_001142417.2,NM_003296.3,NM_001142407.2,NM_001142408.2;		T:0.0002			0,1		MODERATE	263/732	R88H	CRIS2_HUMAN		T:0	Transcript		probably_damaging(1)	.	ENSP00000339155	2.47E-05	CCDS4928.1		T:0.001	1	
SYCE1L	0	LGGM	GRCh37	16	77242411	77242411	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	2	6	.	.	ENST00000378644.4:c.231G>A	p.Glu77=	p.E77=	ENST00000378644	NM_001129979.1	77	gaG/gaA	0	1	1	UPI000025210F	0		ENST00000378644		ENSG00000205078	37236		8			HGNC	p.E77E		SYCE1L		SNV							ENST00000378644	protein_coding			hmmpanther:PTHR21731:SF1,hmmpanther:PTHR21731,Pfam_domain:PF15233		E		A		286/858							YES	SYCE1L,synonymous_variant,p.=,ENST00000378644,NM_001129979.1;SYCE1L,upstream_gene_variant,,ENST00000563157,;RP11-538I12.2,intron_variant,,ENST00000569032,;SYCE1L,upstream_gene_variant,,ENST00000568925,;							LOW	231/729		SYC1L_HUMAN			Transcript			.	ENSP00000367911		CCDS45533.1			1	
AKAP6	0	LGGM	GRCh37	14	33293559	33293559	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	18	6	.	.	ENST00000280979.4:c.6540A>T	p.Ala2180=	p.A2180=	ENST00000280979	NM_004274.4	2180	gcA/gcT	0	1	1	UPI000013DC48	0		ENST00000280979		ENSG00000151320	376		24			HGNC	p.A2180A		AKAP6		SNV							ENST00000280979	protein_coding			hmmpanther:PTHR14514,hmmpanther:PTHR14514:SF2		A		T		6710/8686				G3V569_HUMAN,G3V3H6_HUMAN,G3V3H2_HUMAN,G3V3B5_HUMAN,D3DS91_HUMAN			YES	AKAP6,synonymous_variant,p.=,ENST00000280979,NM_004274.4;AKAP6,intron_variant,,ENST00000557272,;							LOW	6540/6960		AKAP6_HUMAN			Transcript			.	ENSP00000280979		CCDS9644.1			1	
LPA	0	LGGM	GRCh37	6	161085237	161085237	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	51	6	.	.	ENST00000447678.1:c.10A>G	p.Lys4Glu	p.K4E	ENST00000447678	NM_005577.2	4	Aag/Gag	0	1		UPI0000458AC9	0	NA	ENST00000316300		ENSG00000198670	6667		57	0.895		HGNC	p.K4E		LPA		SNV			1				ENST00000316300	protein_coding	getma.org/?cm=var&var=hg19,6,161085237,T,C&fts=all		Cleavage_site_(Signalp):SignalP-noTM		K/E		C	low	55/6414		getma.org/?cm=msa&ty=f&p=Q1HP67_HUMAN&rb=1&re=57&var=K4E	tolerated_low_confidence(0.19)	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN				LPA,missense_variant,p.Lys4Glu,ENST00000447678,NM_005577.2;LPA,missense_variant,p.Lys4Glu,ENST00000316300,;RP1-81D8.4,downstream_gene_variant,,ENST00000452651,;							MODERATE	Oct-23	K4E	APOA_HUMAN			Transcript		possibly_damaging(0.546)	.	ENSP00000321334		CCDS43523.1			1	
ILF3	0	LGGM	GRCh37	19	10782166	10782166	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	8	7	.	.	ENST00000449870.1:c.366C>T	p.Thr122=	p.T122=	ENST00000449870	NM_017620.2	122	acC/acT	0	1		UPI0000163A87	0		ENST00000590261		ENSG00000129351	6038		15			HGNC	p.T122T	rs747342239	ILF3		SNV							ENST00000589998	protein_coding			PROSITE_profiles:PS51703,hmmpanther:PTHR10910:SF34,hmmpanther:PTHR10910,Pfam_domain:PF07528,SMART_domains:SM00572		T		T		366/3219	1.57E-05			K7ERM6_HUMAN,K7ER69_HUMAN,K7EM82_HUMAN,K7EKJ9_HUMAN,K7EJ09_HUMAN				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,synonymous_variant,p.=,ENST00000589600,;ILF3,synonymous_variant,p.=,ENST00000587941,;ILF3,downstream_gene_variant,,ENST00000589283,;ILF3,downstream_gene_variant,,ENST00000593199,;ILF3,synonymous_variant,p.=,ENST00000585835,;ILF3,synonymous_variant,p.=,ENST00000589416,;ILF3,non_coding_transcript_exon_variant,,ENST00000587928,;ILF3,intron_variant,,ENST00000587505,;ILF3,intron_variant,,ENST00000587840,;ILF3,intron_variant,,ENST00000589052,;							LOW	366/2685		ILF3_HUMAN			Transcript			.	ENSP00000468156	8.24E-06	CCDS12246.1			1	
TP53	0	LGGM	GRCh37	17	7577538	7577538	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	16	7	.	.	ENST00000269305.4:c.743G>T	p.Arg248Leu	p.R248L	ENST00000269305	NM_001126112.2	248	cGg/cTg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R248L	ENST00000269305		ENSG00000141510	11998		23	3.315		HGNC	p.R248L	TP53_g.13380G>T,COSM6549,COSM241995,COSM241994,COSM3378346,COSM1646857,COSM241996	TP53		SNV			1			0,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577538,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/L		A	medium	933/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R248L	deleterious(0)	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			YES	TP53,missense_variant,p.Arg248Leu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg248Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg248Leu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg248Leu,ENST00000445888,;TP53,missense_variant,p.Arg248Leu,ENST00000359597,;TP53,missense_variant,p.Arg248Leu,ENST00000413465,;TP53,missense_variant,p.Arg116Leu,ENST00000509690,;TP53,missense_variant,p.Arg155Leu,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,;					0,1,1,1,1,1,1		MODERATE	743/1182	R248L	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
OBSCN	0	LGGM	GRCh37	1	228399784	228399784	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	0	7	.	.	ENST00000570156.2:c.300C>T	p.Asp100=	p.D100=	ENST00000570156	NM_001271223.2	100	gaC/gaT	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		7			HGNC	p.D100D	rs538993456	OBSCN		SNV				0.00137			ENST00000570156	protein_coding		T:0.0008	PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:2.60.40.10,SMART_domains:SM00409		D		T		344/24030					T:0	T:0		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,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;C1orf145,intron_variant,,ENST00000295012,;OBSCN,upstream_gene_variant,,ENST00000493977,;C1orf145,intron_variant,,ENST00000337335,;C1orf145,intron_variant,,ENST00000472613,;		T:0.0002					LOW	300/23907		OBSCN_HUMAN		T:0	Transcript			common_variant	ENSP00000409493	1.10E-05	CCDS58065.1		T:0	1	
PIWIL1	0	LGGM	GRCh37	12	130827566	130827566	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	7	8	.	.	ENST00000245255.3:c.110C>T	p.Pro37Leu	p.P37L	ENST00000245255	NM_004764.4	37	cCt/cTt	0	1	1	UPI000007059F	0	NA	ENST00000245255		ENSG00000125207	9007		15	1.545		HGNC	p.P37L		PIWIL1		SNV							ENST00000546060	protein_coding	getma.org/?cm=var&var=hg19,12,130827566,C,T&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF05831,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31		P/L		T	low	382/3897		getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=1&re=111&var=P37L	tolerated(0.16)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN			YES	PIWIL1,missense_variant,p.Pro37Leu,ENST00000245255,NM_004764.4,NM_001190971.1;PIWIL1,missense_variant,p.Pro37Leu,ENST00000542723,;PIWIL1,missense_variant,p.Pro37Leu,ENST00000546060,;PIWIL1,missense_variant,p.Pro37Leu,ENST00000535956,;PIWIL1,missense_variant,p.Pro37Leu,ENST00000539995,;PIWIL1,missense_variant,p.Pro37Leu,ENST00000539400,;PIWIL1,upstream_gene_variant,,ENST00000540672,;							MODERATE	110/2586	P37L	PIWL1_HUMAN			Transcript		benign(0)	.	ENSP00000245255		CCDS9268.1			1	
CRIP3	0	LGGM	GRCh37	6	43274045	43274045	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	21	8	.	.	ENST00000372569.3:c.407A>T	p.Lys136Met	p.K136M	ENST00000372569	NM_206922.2	136	aAg/aTg	0	1		UPI0000457446	0	getma.org/pdb.php?prot=CRIP3_HUMAN&from=124&to=181&var=K136M	ENST00000274990		ENSG00000146215	17751		29	2.185		HGNC	p.K8M		CRIP3		SNV							ENST00000451294	protein_coding	getma.org/?cm=var&var=hg19,6,43274045,T,A&fts=all		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,SMART_domains:SM00132,Superfamily_domains:SSF57716		K/M		A	medium	412/800		getma.org/?cm=msa&ty=f&p=CRIP3_HUMAN&rb=124&re=181&var=K136M	deleterious(0)					CRIP3,missense_variant,p.Lys136Met,ENST00000372569,NM_206922.2;CRIP3,missense_variant,p.Lys136Met,ENST00000274990,;CRIP3,missense_variant,p.Lys8Met,ENST00000451294,;CRIP3,missense_variant,p.Lys60Met,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000372585,NM_153320.2;SLC22A7,downstream_gene_variant,,ENST00000372589,NM_006672.3;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000436107,;ZNF318,downstream_gene_variant,,ENST00000607252,;SLC22A7,downstream_gene_variant,,ENST00000487175,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;ZNF318,downstream_gene_variant,,ENST00000605935,;CRIP3,downstream_gene_variant,,ENST00000485819,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;							MODERATE	407/654	K136M	CRIP3_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000274990					1	
CRIP3	0	LGGM	GRCh37	6	43274046	43274046	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	20	8	.	.	ENST00000372569.3:c.406A>G	p.Lys136Glu	p.K136E	ENST00000372569	NM_206922.2	136	Aag/Gag	0	1		UPI0000457446	0	getma.org/pdb.php?prot=CRIP3_HUMAN&from=124&to=181&var=K136E	ENST00000274990		ENSG00000146215	17751		28	1.7		HGNC	p.K8E		CRIP3		SNV							ENST00000451294	protein_coding	getma.org/?cm=var&var=hg19,6,43274046,T,C&fts=all		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF46,SMART_domains:SM00132,Superfamily_domains:SSF57716		K/E		C	low	411/800		getma.org/?cm=msa&ty=f&p=CRIP3_HUMAN&rb=124&re=181&var=K136E	deleterious(0.04)					CRIP3,missense_variant,p.Lys136Glu,ENST00000372569,NM_206922.2;CRIP3,missense_variant,p.Lys136Glu,ENST00000274990,;CRIP3,missense_variant,p.Lys8Glu,ENST00000451294,;CRIP3,missense_variant,p.Lys60Glu,ENST00000416431,;SLC22A7,downstream_gene_variant,,ENST00000372585,NM_153320.2;SLC22A7,downstream_gene_variant,,ENST00000372589,NM_006672.3;SLC22A7,downstream_gene_variant,,ENST00000372574,;SLC22A7,downstream_gene_variant,,ENST00000436107,;ZNF318,downstream_gene_variant,,ENST00000607252,;SLC22A7,downstream_gene_variant,,ENST00000487175,;CRIP3,non_coding_transcript_exon_variant,,ENST00000487744,;CRIP3,non_coding_transcript_exon_variant,,ENST00000477866,;ZNF318,downstream_gene_variant,,ENST00000605935,;CRIP3,downstream_gene_variant,,ENST00000485819,;RP11-480N24.3,upstream_gene_variant,,ENST00000406185,;							MODERATE	406/654	K136E	CRIP3_HUMAN			Transcript		benign(0.325)	.	ENSP00000274990					1	
KMT2B	0	LGGM	GRCh37	19	36214785	36214785	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	7	8	.	.	ENST00000222270.7:c.3211C>G	p.Leu1071Val	p.L1071V	ENST00000222270	NM_014727.1	1071	Ctg/Gtg	0	1		UPI00001376B5	0	NA	ENST00000420124		ENSG00000272333	15840		15	0		Uniprot_gn	p.L1071V		KMT2B		SNV							ENST00000222270	protein_coding	getma.org/?cm=var&var=hg19,19,36214785,C,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354		L/V		G	neutral	3211/8469		getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1006&re=1205&var=L1071V						KMT2B,missense_variant,p.Leu1071Val,ENST00000420124,;KMT2B,missense_variant,p.Leu1071Val,ENST00000222270,NM_014727.1;KMT2B,downstream_gene_variant,,ENST00000341701,;KMT2B,non_coding_transcript_exon_variant,,ENST00000607650,;KMT2B,downstream_gene_variant,,ENST00000606995,;							MODERATE	3211/8148	L1071V	KMT2B_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000398837					1	
STUB1	0	LGGM	GRCh37	16	732227	732257	+	frameshift_variant	Frame_Shift_Del	DEL	CATCACGCCCAGTGGCATCACCTACGACCGC	CATCACGCCCAGTGGCATCACCTACGACCGC	-	novel	by Submitter	H093428	H093428N.bam	CATCACGCCCAGTGGCATCACCTACGACCGC	CATCACGCCCAGTGGCATCACCTACGACCGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	6	10	.	.	ENST00000219548.4:c.732_762del	p.Cys244Ter	p.C244*	ENST00000219548	NM_005861.2	244	tgCATCACGCCCAGTGGCATCACCTACGACCGC/tg	0	1	1	UPI000006E1B4	0		ENST00000219548		ENSG00000103266	11427		16			HGNC	p.172_182del		STUB1		deletion			1				ENST00000564370	protein_coding			PROSITE_profiles:PS51698,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF305,Pfam_domain:PF04564,Gene3D:3.30.40.10,SMART_domains:SM00504,Superfamily_domains:SSF57850		CITPSGITYDR/X		-		982-1012/1472							YES	STUB1,frameshift_variant,p.Cys172Ter,ENST00000565677,;STUB1,frameshift_variant,p.Cys244Ter,ENST00000219548,NM_005861.2;STUB1,frameshift_variant,p.Cys172Ter,ENST00000564370,;STUB1,frameshift_variant,p.Cys98Ter,ENST00000564316,;STUB1,frameshift_variant,p.Cys150Ter,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,;STUB1,downstream_gene_variant,,ENST00000567173,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,downstream_gene_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,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568313,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000563088,;STUB1,downstream_gene_variant,,ENST00000563505,;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,;							HIGH	732-762/912		CHIP_HUMAN			Transcript			.	ENSP00000219548		CCDS10419.1			1	
FCRLB	0	LGGM	GRCh37	1	161697186	161697186	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	18	10	.	.	ENST00000367948.2:c.1015C>A	p.Leu339Met	p.L339M	ENST00000367948		339	Ctg/Atg	0	1	1	UPI00003FF782	0	NA	ENST00000367948		ENSG00000162746	26431		28	1.155		HGNC	p.L339M		FCRLB		SNV							ENST00000392158	protein_coding	getma.org/?cm=var&var=hg19,1,161697186,C,A&fts=all		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF46		L/M		A	low	1230/1977		getma.org/?cm=msa&ty=f&p=FCRLB_HUMAN&rb=191&re=390&var=L339M	tolerated(0.06)				YES	FCRLB,missense_variant,p.Leu339Met,ENST00000367948,;FCRLB,missense_variant,p.Leu339Met,ENST00000392158,NM_001002901.2;FCRLB,synonymous_variant,p.=,ENST00000367946,NM_001288829.1;FCRLB,synonymous_variant,p.=,ENST00000367945,;FCRLB,3_prime_UTR_variant,,ENST00000336830,NM_001288831.1;FCRLB,3_prime_UTR_variant,,ENST00000367944,;FCRLB,non_coding_transcript_exon_variant,,ENST00000495397,;							MODERATE	1015/1281	L339M	FCRLB_HUMAN			Transcript		possibly_damaging(0.534)	.	ENSP00000356925		CCDS30927.1			1	
VANGL2	0	LGGM	GRCh37	1	160390941	160390941	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	6	10	.	.	ENST00000368061.2:c.1037C>T	p.Ala346Val	p.A346V	ENST00000368061	NM_020335.2	346	gCt/gTt	0	1	1	UPI00001C1D79	0	NA	ENST00000368061		ENSG00000162738	15511		16	2.035		HGNC	p.A346V		VANGL2		SNV			1				ENST00000368061	protein_coding	getma.org/?cm=var&var=hg19,1,160390941,C,T&fts=all		Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10,Low_complexity_(Seg):seg		A/V		T	medium	1511/5340		getma.org/?cm=msa&ty=f&p=VANG2_HUMAN&rb=21&re=521&var=A346V	tolerated(0.16)				YES	VANGL2,missense_variant,p.Ala346Val,ENST00000368061,NM_020335.2;VANGL2,non_coding_transcript_exon_variant,,ENST00000483408,;							MODERATE	1037/1566	A346V	VANG2_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000357040		CCDS30915.1			1	
STUB1	0	LGGM	GRCh37	16	732224	732224	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	8	10	.	.	ENST00000219548.4:c.729del	p.Cys244AlafsTer27	p.C244Afs*27	ENST00000219548	NM_005861.2	243	ccG/cc	0	1	1	UPI000006E1B4	0		ENST00000219548		ENSG00000103266	11427		18			HGNC	p.P171fs		STUB1		deletion			1				ENST00000564370	protein_coding			PROSITE_profiles:PS51698,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF305,Pfam_domain:PF04564,Gene3D:3.30.40.10,SMART_domains:SM00504,Superfamily_domains:SSF57850		P/X		-		979/1472							YES	STUB1,frameshift_variant,p.Cys172AlafsTer27,ENST00000565677,;STUB1,frameshift_variant,p.Cys244AlafsTer27,ENST00000219548,NM_005861.2;STUB1,frameshift_variant,p.Cys172AlafsTer27,ENST00000564370,;STUB1,frameshift_variant,p.Cys98AlafsTer27,ENST00000564316,;STUB1,frameshift_variant,p.Cys150AlafsTer20,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,;STUB1,downstream_gene_variant,,ENST00000567173,;LA16c-313D11.9,upstream_gene_variant,,ENST00000571933,;LA16c-313D11.9,upstream_gene_variant,,ENST00000567091,;STUB1,downstream_gene_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,;JMJD8,non_coding_transcript_exon_variant,,ENST00000568313,;RHBDL1,downstream_gene_variant,,ENST00000450775,;JMJD8,downstream_gene_variant,,ENST00000569441,;JMJD8,downstream_gene_variant,,ENST00000563088,;STUB1,downstream_gene_variant,,ENST00000563505,;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,;							HIGH	729/912		CHIP_HUMAN			Transcript			.	ENSP00000219548		CCDS10419.1			1	
MLN	0	LGGM	GRCh37	6	33768842	33768842	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	53	10	.	.	ENST00000430124.2:c.99C>T	p.Gly33=	p.G33=	ENST00000430124	NM_001040109.1	33	ggC/ggT	0	1	1	UPI000012F3E4	0		ENST00000430124		ENSG00000096395	7141		63			HGNC	p.G33G	rs768851912,COSM216746	MLN		SNV						0,1	ENST00000507738	protein_coding			Pfam_domain:PF04644,hmmpanther:PTHR14156,hmmpanther:PTHR14156:SF0		G		A		165/566	3.00E-05						YES	MLN,synonymous_variant,p.=,ENST00000430124,NM_001040109.1,NM_002418.2,NM_001184698.1;MLN,synonymous_variant,p.=,ENST00000266003,;MLN,synonymous_variant,p.=,ENST00000507738,;					0,1		LOW	99/348		MOTI_HUMAN			Transcript			.	ENSP00000388825	1.65E-05	CCDS4786.1			1	
KCNH6	0	LGGM	GRCh37	17	61607780	61607780	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	28	12	.	.	ENST00000583023.1:c.552C>T	p.Phe184=	p.F184=	ENST00000583023	NM_030779.3	184	ttC/ttT	0	1	1	UPI000012DCAB	0		ENST00000583023		ENSG00000173826	18862		40			HGNC	p.F184F		KCNH6		SNV							ENST00000456941	protein_coding			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF473		F		T		563/3821							YES	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,;							LOW	552/2985		KCNH6_HUMAN			Transcript			.	ENSP00000463533		CCDS11638.1			1	
EFCC1	0	LGGM	GRCh37	3	128758640	128758640	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	21	12	.	.	ENST00000480450.1:c.1746A>T	p.Ala582=	p.A582=	ENST00000480450		582	gcA/gcT	0	1		UPI00000707F7	0		ENST00000436022		ENSG00000114654	25692		33			HGNC	p.A145A		EFCC1		SNV							ENST00000436022	protein_coding			Low_complexity_(Seg):seg		A		T		1746/2691								EFCC1,synonymous_variant,p.=,ENST00000436022,NM_024768.2;EFCC1,synonymous_variant,p.=,ENST00000480450,;EFCC1,non_coding_transcript_exon_variant,,ENST00000481536,;							LOW	435/486		EFCC1_HUMAN			Transcript			.	ENSP00000414597					1	
TSGA10	0	LGGM	GRCh37	2	99725378	99725378	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	16	12	.	.	ENST00000393483.3:c.128A>C	p.Tyr43Ser	p.Y43S	ENST00000393483	NM_025244.2	43	tAt/tCt	0	1		UPI0000072CE3	0	NA	ENST00000355053		ENSG00000135951	14927		28	1.39		HGNC	p.Y43S		TSGA10		SNV							ENST00000393483	protein_coding	getma.org/?cm=var&var=hg19,2,99725378,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF9		Y/S		G	low	757/3037		getma.org/?cm=msa&ty=f&p=TSG10_HUMAN&rb=1&re=196&var=Y43S	deleterious(0.01)	F8WA32_HUMAN				TSGA10,missense_variant,p.Tyr43Ser,ENST00000393483,NM_025244.2;TSGA10,missense_variant,p.Tyr43Ser,ENST00000355053,NM_182911.3;TSGA10,missense_variant,p.Tyr43Ser,ENST00000410001,;TSGA10,missense_variant,p.Tyr43Ser,ENST00000539964,;TSGA10,missense_variant,p.Tyr43Ser,ENST00000393482,;TSGA10,missense_variant,p.Tyr43Ser,ENST00000409564,;TSGA10,missense_variant,p.Tyr43Ser,ENST00000542655,;TSGA10,non_coding_transcript_exon_variant,,ENST00000478090,;TSGA10,intron_variant,,ENST00000488960,;TSGA10,downstream_gene_variant,,ENST00000471174,;TSGA10,downstream_gene_variant,,ENST00000489926,;TSGA10,downstream_gene_variant,,ENST00000497915,;							MODERATE	128/2097	Y43S	TSG10_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000347161		CCDS2037.1			1	
TADA1	0	LGGM	GRCh37	1	166829527	166829527	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	49	13	.	.	ENST00000367874.4:c.588T>G	p.Ala196=	p.A196=	ENST00000367874	NM_053053.3	196	gcT/gcG	0	1	1	UPI00000709B6	0		ENST00000367874		ENSG00000152382	30631		62			HGNC	p.A196A		TADA1		SNV							ENST00000367874	protein_coding			hmmpanther:PTHR21277		A		C		682/2159							YES	TADA1,synonymous_variant,p.=,ENST00000367874,NM_053053.3;POGK,downstream_gene_variant,,ENST00000367876,NM_017542.3;TADA1,non_coding_transcript_exon_variant,,ENST00000467021,;							LOW	588/1008		TADA1_HUMAN			Transcript			.	ENSP00000356848		CCDS1255.1			1	
LRP1B	0	LGGM	GRCh37	2	141299511	141299511	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	28	13	.	.	ENST00000389484.3:c.7224C>A	p.Phe2408Leu	p.F2408L	ENST00000389484	NM_018557.2	2408	ttC/ttA	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=2373&to=2499&var=F2408L	ENST00000389484		ENSG00000168702	6693		41	0.425		HGNC	p.F2408L		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141299511,G,T&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		F/L		T	neutral	8196/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=2373&re=2499&var=F2408L		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			YES	LRP1B,missense_variant,p.Phe2408Leu,ENST00000389484,NM_018557.2;							MODERATE	7224/13800	F2408L	LRP1B_HUMAN			Transcript		benign(0.153)	.	ENSP00000374135		CCDS2182.1			1	
GPR115	0	LGGM	GRCh37	6	47678470	47678470	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	25	14	.	.	ENST00000283303.2:c.149-1G>C		p.X50_splice	ENST00000283303	NM_153838.3			0	1	1	UPI000046FF2B	0		ENST00000283303		ENSG00000153294	19011		39			HGNC	-		GPR115		SNV							ENST00000371220	protein_coding							C		-/3162							YES	GPR115,splice_acceptor_variant,,ENST00000283303,NM_153838.3;GPR115,splice_acceptor_variant,,ENST00000371220,;GPR115,splice_acceptor_variant,,ENST00000327753,;RN7SKP116,upstream_gene_variant,,ENST00000516902,;							HIGH	149/2088		GP115_HUMAN			Transcript			.	ENSP00000283303		CCDS4922.2			1	
BDP1	0	LGGM	GRCh37	5	70810926	70810926	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	16	14	.	.	ENST00000358731.4:c.4626A>T	p.Lys1542Asn	p.K1542N	ENST00000358731	NM_018429.2	1542	aaA/aaT	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		30	0		HGNC	p.K1542N		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70810926,A,T&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		K/N		T	neutral	4889/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=K1542N	deleterious(0)				YES	BDP1,missense_variant,p.Lys1542Asn,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,downstream_gene_variant,,ENST00000508157,;							MODERATE	4626/7875	K1542N	BDP1_HUMAN			Transcript		benign(0.003)	.	ENSP00000351575		CCDS43328.1			1	
BTNL8	0	LGGM	GRCh37	5	180376261	180376261	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	4	14	.	.	ENST00000340184.4:c.858C>T	p.His286=	p.H286=	ENST00000340184	NM_001040462.2	286	caC/caT	0	1	1	UPI00000389ED	0	NA	ENST00000340184		ENSG00000113303	26131		18	0		HGNC	p.R323C	rs145611296	BTNL8		SNV	G:0			0.00127			ENST00000508408	protein_coding	getma.org/?cm=var&var=hg19,5,180376261,C,T&fts=all	T:0.0015	Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF13,Superfamily_domains:SSF49899		H	G:0.0001	T	NA	1064/2071	5.15E-05	NA		D6RIR7_HUMAN	T:0	T:0	YES	BTNL8,missense_variant,p.Arg330Cys,ENST00000231229,NM_024850.2,NM_001159708.1;BTNL8,missense_variant,p.Arg323Cys,ENST00000508408,;BTNL8,synonymous_variant,p.=,ENST00000340184,NM_001040462.2;BTNL8,synonymous_variant,p.=,ENST00000533815,NM_001159710.1;BTNL8,synonymous_variant,p.=,ENST00000400707,NM_001159709.1;BTNL8,synonymous_variant,p.=,ENST00000505126,;BTNL8,synonymous_variant,p.=,ENST00000511704,NM_001159707.1;BTNL8,3_prime_UTR_variant,,ENST00000503543,;BTNL8,downstream_gene_variant,,ENST00000514448,;BTNL8,downstream_gene_variant,,ENST00000513442,;RPS29P12,downstream_gene_variant,,ENST00000460178,;		T:0.0004					LOW	858/1503	H286H	BTNL8_HUMAN		T:0	Transcript			common_variant	ENSP00000342197	0.00015	CCDS43413.1		T:0	1	
AXIN1	0	LGGM	GRCh37	16	396448	396448	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	13	14	.	.	ENST00000262320.3:c.578T>A	p.Met193Lys	p.M193K	ENST00000262320	NM_003502.3	193	aTg/aAg	0	1	1	UPI000012669E	0	getma.org/pdb.php?prot=AXIN1_HUMAN&from=88&to=210&var=M193K	ENST00000262320		ENSG00000103126	903		27	3.6		HGNC	p.M193K		AXIN1		SNV			1				ENST00000354866	protein_coding	getma.org/?cm=var&var=hg19,16,396448,A,T&fts=all		PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF11,Pfam_domain:PF00615,Gene3D:1.10.167.10,SMART_domains:SM00315,Superfamily_domains:SSF48097,Prints_domain:PR01301		M/K		T	high	950/3643		getma.org/?cm=msa&ty=f&p=AXIN1_HUMAN&rb=88&re=210&var=M193K	deleterious(0)				YES	AXIN1,missense_variant,p.Met193Lys,ENST00000262320,NM_003502.3;AXIN1,missense_variant,p.Met193Lys,ENST00000354866,NM_181050.2;AXIN1,intron_variant,,ENST00000481769,;AXIN1,upstream_gene_variant,,ENST00000461023,;							MODERATE	578/2589	M193K	AXIN1_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000262320		CCDS10405.1			1	
C14orf159	0	LGGM	GRCh37	14	91681850	91681850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	32	14	.	.	ENST00000518868.1:c.1666A>T	p.Arg556Trp	p.R556W	ENST00000518868	NM_001286470.1	556	Agg/Tgg	0	1		UPI000006DF0E	0	NA	ENST00000428926		ENSG00000133943	20498		46	1.87		HGNC	p.R499W		C14orf159		SNV							ENST00000520328	protein_coding	getma.org/?cm=var&var=hg19,14,91681850,A,T&fts=all		Pfam_domain:PF14336,PIRSF_domain:PIRSF037204,hmmpanther:PTHR32022		R/W		T	low	1819/2538		getma.org/?cm=msa&ty=f&p=CN159_HUMAN&rb=297&re=611&var=R551W	deleterious(0.01)	E5RK56_HUMAN,E5RK14_HUMAN,E5RJD1_HUMAN,E5RJ87_HUMAN,E5RIL4_HUMAN,E5RHG2_HUMAN,E5RGP9_HUMAN,E5RFT5_HUMAN				C14orf159,missense_variant,p.Arg556Trp,ENST00000518868,NM_001286470.1;C14orf159,missense_variant,p.Arg551Trp,ENST00000523771,NM_001286471.1;C14orf159,missense_variant,p.Arg556Trp,ENST00000256324,NM_001102368.1;C14orf159,missense_variant,p.Arg551Trp,ENST00000522322,NM_001102367.1;C14orf159,missense_variant,p.Arg556Trp,ENST00000412671,;C14orf159,missense_variant,p.Arg551Trp,ENST00000523816,NM_001102366.1;C14orf159,missense_variant,p.Arg516Trp,ENST00000521077,NM_001286472.1;C14orf159,missense_variant,p.Arg499Trp,ENST00000520328,NM_001102369.1;C14orf159,missense_variant,p.Arg551Trp,ENST00000428926,NM_024952.6;C14orf159,missense_variant,p.Arg427Trp,ENST00000525393,;C14orf159,missense_variant,p.Arg152Trp,ENST00000522816,;C14orf159,non_coding_transcript_exon_variant,,ENST00000557303,;C14orf159,upstream_gene_variant,,ENST00000523576,;C14orf159,missense_variant,p.Arg541Trp,ENST00000523461,;C14orf159,missense_variant,p.Arg446Trp,ENST00000517306,;C14orf159,3_prime_UTR_variant,,ENST00000523837,;							MODERATE	1651/1851	R551W	CN159_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000404343		CCDS32141.1			1	
ZNF341	0	LGGM	GRCh37	20	32357986	32357986	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	13	16	.	.	ENST00000342427.2:c.1489C>T	p.Arg497Cys	p.R497C	ENST00000342427	NM_032819.3	497	Cgc/Tgc	0	1		UPI0000470A07	0	getma.org/pdb.php?prot=ZN341_HUMAN&from=503&to=525&var=R504C	ENST00000375200		ENSG00000131061	15992		29	1.41		HGNC	p.R504C	rs373741402	ZNF341	6.08E-05	SNV	T:0.0002						ENST00000375200	protein_coding	getma.org/?cm=var&var=hg19,20,32357986,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24388,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/C	T:0	T	low	1875/3682		getma.org/?cm=msa&ty=f&p=ZN341_HUMAN&rb=483&re=545&var=R504C	deleterious(0)					ZNF341,missense_variant,p.Arg504Cys,ENST00000375200,NM_001282933.1;ZNF341,missense_variant,p.Arg497Cys,ENST00000342427,NM_032819.3;ZNF341,missense_variant,p.Arg504Cys,ENST00000483118,;ZNF341,3_prime_UTR_variant,,ENST00000497876,NM_001282935.1;							MODERATE	1510/2565	R504C	ZN341_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000364346	8.24E-06				1	
KRTAP5-6	0	LGGM	GRCh37	11	1718831	1718831	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	106	16	.	.	ENST00000382160.1:c.356G>T	p.Cys119Phe	p.C119F	ENST00000382160	NM_001012416.1	119	tGc/tTc	0	1	1	UPI0000376060	0	NA	ENST00000382160		ENSG00000205864	23600		122	3.27		HGNC	p.C119F		KRTAP5-6		SNV							ENST00000382160	protein_coding	getma.org/?cm=var&var=hg19,11,1718831,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262		C/F		T	medium	407/561		getma.org/?cm=msa&ty=f&p=KRA56_HUMAN&rb=1&re=127&var=C119F	deleterious_low_confidence(0)				YES	KRTAP5-6,missense_variant,p.Cys119Phe,ENST00000382160,NM_001012416.1;							MODERATE	356/390	C119F	KRA56_HUMAN			Transcript		unknown(0)	.	ENSP00000371595		CCDS31332.1			1	
COL7A1	0	LGGM	GRCh37	3	48630066	48630066	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	25	16	.	.	ENST00000328333.8:c.913G>C	p.Val305Leu	p.V305L	ENST00000328333	NM_000094.3	305	Gtg/Ctg	0	1	1	UPI0000126D20	0	getma.org/pdb.php?prot=CO7A1_HUMAN&from=233&to=318&var=V305L	ENST00000328333		ENSG00000114270	2214		41	0.82		HGNC	p.V305L		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48630066,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265		V/L		G	low	1021/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=233&re=318&var=V305L					YES	COL7A1,missense_variant,p.Val305Leu,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Val305Leu,ENST00000454817,;							MODERATE	913/8835	V305L	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
ZNF595	0	LGGM	GRCh37	4	60023	60023	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	332	16	.	.	ENST00000526473.2:c.203A>G	p.His68Arg	p.H68R	ENST00000526473		68	cAt/cGt	0	1	1	UPI00020651F4	0		ENST00000526473		ENSG00000197701	27196		348			HGNC	p.H68R	rs760402884	ZNF595		SNV							ENST00000509152	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF44		H/R		G		376/452	4.50E-05		deleterious_low_confidence(0.04)	F5H663_HUMAN			YES	ZNF595,missense_variant,p.His68Arg,ENST00000509152,;ZNF595,missense_variant,p.His68Arg,ENST00000526473,;Z95704.1,upstream_gene_variant,,ENST00000384911,;ZNF595,non_coding_transcript_exon_variant,,ENST00000339368,;ZNF595,intron_variant,,ENST00000512065,;ZNF595,intron_variant,,ENST00000507368,;ZNF595,non_coding_transcript_exon_variant,,ENST00000502981,;							MODERATE	203/279					Transcript		benign(0.006)	.	ENSP00000437878	2.47E-05				1	
KRTAP5-6	0	LGGM	GRCh37	11	1718829	1718829	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	107	16	.	.	ENST00000382160.1:c.354C>T	p.Ser118=	p.S118=	ENST00000382160	NM_001012416.1	118	agC/agT	0	1	1	UPI0000376060	0		ENST00000382160		ENSG00000205864	23600		123			HGNC	p.S118S		KRTAP5-6		SNV							ENST00000382160	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF24,hmmpanther:PTHR23262		S		T		405/561							YES	KRTAP5-6,synonymous_variant,p.=,ENST00000382160,NM_001012416.1;							LOW	354/390		KRA56_HUMAN			Transcript			.	ENSP00000371595		CCDS31332.1			1	
TCF20	0	LGGM	GRCh37	22	42610762	42610762	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	19	17	.	.	ENST00000359486.3:c.550A>T	p.Arg184Ter	p.R184*	ENST00000359486	NM_005650.2	184	Aga/Tga	0	1	1	UPI00001A95D9	0	NA	ENST00000359486		ENSG00000100207	11631		36	0		HGNC	p.R184X		TCF20		SNV							ENST00000359486	protein_coding	getma.org/?cm=var&var=hg19,22,42610762,T,A&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7,Low_complexity_(Seg):seg		R/*		A	NA	687/7410		NA		I3L1M7_HUMAN			YES	TCF20,stop_gained,p.Arg184Ter,ENST00000359486,NM_005650.2;TCF20,stop_gained,p.Arg184Ter,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							HIGH	550/5883	R184*	TCF20_HUMAN			Transcript			.	ENSP00000352463		CCDS14033.1			1	
ENAH	0	LGGM	GRCh37	1	225688726	225688726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	55	17	.	.	ENST00000366844.3:c.1648A>G	p.Thr550Ala	p.T550A	ENST00000366844	NM_001008493.1	550	Acg/Gcg	0	1	1	UPI0000203FDB	0	NA	ENST00000366844		ENSG00000154380	18271		72	0		HGNC	p.T529A		ENAH		SNV							ENST00000366843	protein_coding	getma.org/?cm=var&var=hg19,1,225688726,T,C&fts=all		hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF1		T/A		C	neutral	2100/13168		getma.org/?cm=msa&ty=f&p=ENAH_HUMAN&rb=509&re=550&var=T550A	tolerated(0.15)				YES	ENAH,missense_variant,p.Thr550Ala,ENST00000366844,NM_001008493.1,NM_018212.4;ENAH,missense_variant,p.Thr776Ala,ENST00000284563,;ENAH,missense_variant,p.Thr529Ala,ENST00000366843,;ENAH,intron_variant,,ENST00000488523,;ENAH,non_coding_transcript_exon_variant,,ENST00000358675,;ENAH,non_coding_transcript_exon_variant,,ENST00000498108,;ENAH,non_coding_transcript_exon_variant,,ENST00000483952,;							MODERATE	1648/1776	T550A	ENAH_HUMAN			Transcript		benign(0.05)	.	ENSP00000355809		CCDS31041.1			1	
ACACB	0	LGGM	GRCh37	12	109617740	109617740	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	25	19	.	.	ENST00000338432.7:c.1666A>T	p.Lys556Ter	p.K556*	ENST00000338432		556	Aag/Tag	0	1	1	UPI0000DBEEFB	0	NA	ENST00000338432		ENSG00000076555	85		44	0		HGNC	p.K556X		ACACB		SNV							ENST00000377848	protein_coding	getma.org/?cm=var&var=hg19,12,109617740,A,T&fts=all		Gene3D:3.30.470.20,Pfam_domain:PF02786,PROSITE_profiles:PS50975,PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF56059		K/*		T	NA	1785/9360		NA		F5H5C3_HUMAN,E9PEW7_HUMAN			YES	ACACB,stop_gained,p.Lys556Ter,ENST00000338432,;ACACB,stop_gained,p.Lys556Ter,ENST00000377848,NM_001093.3;ACACB,stop_gained,p.Lys556Ter,ENST00000377854,;ACACB,non_coding_transcript_exon_variant,,ENST00000543080,;							HIGH	1666/7377	K556*	ACACB_HUMAN			Transcript			.	ENSP00000341044		CCDS31898.1			1	
PLCD4	0	LGGM	GRCh37	2	219495445	219495445	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	32	19	.	.	ENST00000450993.2:c.1192C>T	p.His398Tyr	p.H398Y	ENST00000450993	NM_032726.3	398	Cat/Tat	0	1		UPI0000044279	0	getma.org/pdb.php?prot=PLCD4_HUMAN&from=292&to=436&var=H398Y	ENST00000417849		ENSG00000115556	9062		51	0.455		HGNC	p.H398Y		PLCD4		SNV							ENST00000417849	protein_coding	getma.org/?cm=var&var=hg19,2,219495445,C,T&fts=all		Gene3D:3.20.20.190,Pfam_domain:PF00388,PROSITE_profiles:PS50007,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF31,SMART_domains:SM00148,Superfamily_domains:SSF51695		H/Y		T	neutral	1377/2738		getma.org/?cm=msa&ty=f&p=PLCD4_HUMAN&rb=292&re=436&var=H398Y	deleterious(0.05)	C9JAE4_HUMAN				PLCD4,missense_variant,p.His398Tyr,ENST00000450993,NM_032726.3;PLCD4,missense_variant,p.His398Tyr,ENST00000432688,;PLCD4,missense_variant,p.His398Tyr,ENST00000417849,;RP11-548H3.1,downstream_gene_variant,,ENST00000607946,;PLCD4,missense_variant,p.His27Tyr,ENST00000458239,;PLCD4,non_coding_transcript_exon_variant,,ENST00000459791,;PLCD4,non_coding_transcript_exon_variant,,ENST00000473443,;PLCD4,intron_variant,,ENST00000483685,;PLCD4,intron_variant,,ENST00000465713,;PLCD4,intron_variant,,ENST00000497482,;PLCD4,downstream_gene_variant,,ENST00000469493,;PLCD4,upstream_gene_variant,,ENST00000484718,;							MODERATE	1192/2289	H398Y	PLCD4_HUMAN			Transcript		possibly_damaging(0.608)	.	ENSP00000396942		CCDS46516.1			1	
RAD21L1	0	LGGM	GRCh37	20	1224751	1224751	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	43	20	.	.	ENST00000409241.1:c.1245G>A	p.Lys415=	p.K415=	ENST00000409241	NM_001136566.2	415	aaG/aaA	0	1	1	UPI000188152B	0		ENST00000409241		ENSG00000244588	16271		63			HGNC	p.K415K		RAD21L1		SNV							ENST00000402452	protein_coding			hmmpanther:PTHR12585,hmmpanther:PTHR12585:SF19		K		A		1338/1808							YES	RAD21L1,synonymous_variant,p.=,ENST00000409241,NM_001136566.2;RAD21L1,synonymous_variant,p.=,ENST00000402452,;RAD21L1,synonymous_variant,p.=,ENST00000381882,;							LOW	1245/1671		RD21L_HUMAN			Transcript			.	ENSP00000386414		CCDS46568.1			1	
LRRTM1	0	LGGM	GRCh37	2	80530340	80530340	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	43	21	.	.	ENST00000295057.3:c.605G>T	p.Arg202Leu	p.R202L	ENST00000295057	NM_178839.4	202	cGc/cTc	0	1	1	UPI000013E1FE	0	getma.org/pdb.php?prot=LRRT1_HUMAN&from=161&to=221&var=R202L	ENST00000295057		ENSG00000162951	19408		64	1.14		HGNC	p.R202L		LRRTM1		SNV							ENST00000295057	protein_coding	getma.org/?cm=var&var=hg19,2,80530340,C,A&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		R/L		A	low	1262/2599		getma.org/?cm=msa&ty=f&p=LRRT1_HUMAN&rb=161&re=221&var=R202L	deleterious(0)	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN			YES	LRRTM1,missense_variant,p.Arg202Leu,ENST00000295057,NM_178839.4;LRRTM1,missense_variant,p.Arg202Leu,ENST00000409148,;LRRTM1,missense_variant,p.Arg202Leu,ENST00000416268,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.1;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000540488,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Arg202Leu,ENST00000433224,;LRRTM1,missense_variant,p.Arg202Leu,ENST00000417012,;							MODERATE	605/1569	R202L	LRRT1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000295057		CCDS1966.1			1	
FNTB	0	LGGM	GRCh37	14	65482436	65482436	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	41	22	.	.	ENST00000246166.2:c.374+2T>G		p.X125_splice	ENST00000246166	NM_002028.3			0	1	1	UPI0000111EF4	0		ENST00000246166		ENSG00000257365	3785		63			HGNC	-		FNTB		SNV							ENST00000542227	protein_coding							G		-/2834				Q86TX8_HUMAN,B4DJ86_HUMAN,B3KSC2_HUMAN			YES	FNTB,splice_donor_variant,,ENST00000246166,NM_002028.3;FNTB,splice_donor_variant,,ENST00000542227,NM_001202558.1;FNTB,splice_donor_variant,,ENST00000447296,;CHURC1-FNTB,splice_donor_variant,,ENST00000549987,NM_001202559.1;MAX,intron_variant,,ENST00000341653,NM_197957.3;CHURC1-FNTB,downstream_gene_variant,,ENST00000553743,;AL139022.1,downstream_gene_variant,,ENST00000577601,;FNTB,splice_donor_variant,,ENST00000555742,;FNTB,splice_donor_variant,,ENST00000555372,;FNTB,upstream_gene_variant,,ENST00000556709,;FNTB,splice_donor_variant,,ENST00000554334,;CHURC1-FNTB,splice_donor_variant,,ENST00000552941,;FNTB,splice_donor_variant,,ENST00000554210,;CHURC1-FNTB,downstream_gene_variant,,ENST00000551823,;							HIGH	374/1314		FNTB_HUMAN			Transcript			.	ENSP00000246166		CCDS9769.1			1	
LRRTM1	0	LGGM	GRCh37	2	80530339	80530339	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	45	22	.	.	ENST00000295057.3:c.606C>T	p.Arg202=	p.R202=	ENST00000295057	NM_178839.4	202	cgC/cgT	0	1	1	UPI000013E1FE	0		ENST00000295057		ENSG00000162951	19408		67			HGNC	p.R202R		LRRTM1		SNV							ENST00000295057	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		R		A		1263/2599				C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN			YES	LRRTM1,synonymous_variant,p.=,ENST00000295057,NM_178839.4;LRRTM1,synonymous_variant,p.=,ENST00000409148,;LRRTM1,synonymous_variant,p.=,ENST00000416268,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.1;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000540488,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,synonymous_variant,p.=,ENST00000433224,;LRRTM1,synonymous_variant,p.=,ENST00000417012,;							LOW	606/1569		LRRT1_HUMAN			Transcript			.	ENSP00000295057		CCDS1966.1			1	
MON2	0	LGGM	GRCh37	12	62954290	62954290	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	81	25	.	.	ENST00000393632.2:c.3429G>T	p.Trp1143Cys	p.W1143C	ENST00000393632	NM_001278472.1	1143	tgG/tgT	0	1		UPI0000D45F87	0	NA	ENST00000393630		ENSG00000061987	29177		106	2.275		HGNC	p.W1144C		MON2		SNV							ENST00000280379	protein_coding	getma.org/?cm=var&var=hg19,12,62954290,G,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371		W/C		T	medium	3823/10382		getma.org/?cm=msa&ty=f&p=MON2_HUMAN&rb=1134&re=1333&var=W1144C	deleterious(0)					MON2,missense_variant,p.Trp1144Cys,ENST00000393630,;MON2,missense_variant,p.Trp1143Cys,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,missense_variant,p.Trp1143Cys,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Trp1143Cys,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Trp1120Cys,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Trp1144Cys,ENST00000280379,;MON2,3_prime_UTR_variant,,ENST00000547095,;MON2,non_coding_transcript_exon_variant,,ENST00000551307,;MON2,upstream_gene_variant,,ENST00000547287,;							MODERATE	3432/5157	W1144C	MON2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000377250					1	
MON2	0	LGGM	GRCh37	12	62954289	62954289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	79	25	.	.	ENST00000393632.2:c.3428G>T	p.Trp1143Leu	p.W1143L	ENST00000393632	NM_001278472.1	1143	tGg/tTg	0	1		UPI0000D45F87	0	NA	ENST00000393630		ENSG00000061987	29177		104	2.275		HGNC	p.W1144L		MON2		SNV							ENST00000280379	protein_coding	getma.org/?cm=var&var=hg19,12,62954289,G,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371		W/L		T	medium	3822/10382		getma.org/?cm=msa&ty=f&p=MON2_HUMAN&rb=1134&re=1333&var=W1144L	deleterious(0)					MON2,missense_variant,p.Trp1144Leu,ENST00000393630,;MON2,missense_variant,p.Trp1143Leu,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,missense_variant,p.Trp1143Leu,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Trp1143Leu,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Trp1120Leu,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Trp1144Leu,ENST00000280379,;MON2,3_prime_UTR_variant,,ENST00000547095,;MON2,non_coding_transcript_exon_variant,,ENST00000551307,;MON2,upstream_gene_variant,,ENST00000547287,;							MODERATE	3431/5157	W1144L	MON2_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000377250					1	
CIC	0	LGGM	GRCh37	19	42796298	42796298	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	25	25	.	.	ENST00000575354.2:c.2947C>T	p.Pro983Ser	p.P983S	ENST00000575354	NM_015125.3	983	Cca/Tca	0	1	1	UPI000013C5A0	0	NA	ENST00000575354		ENSG00000079432	14214		50	0		HGNC	p.P1892S		CIC		SNV							ENST00000572681	protein_coding	getma.org/?cm=var&var=hg19,19,42796298,C,T&fts=all		hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059		P/S		T	neutral	2987/5473		getma.org/?cm=msa&ty=f&p=CIC_HUMAN&rb=292&re=1606&var=P983S					YES	CIC,missense_variant,p.Pro1892Ser,ENST00000572681,;CIC,missense_variant,p.Pro983Ser,ENST00000160740,;CIC,missense_variant,p.Pro983Ser,ENST00000575354,NM_015125.3;CIC,upstream_gene_variant,,ENST00000576505,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,NM_001145940.1,NM_001145939.1;PAFAH1B3,downstream_gene_variant,,ENST00000262890,NM_002573.3;CIC,upstream_gene_variant,,ENST00000573349,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;							MODERATE	2947/4827	P983S	CIC_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000458663		CCDS12601.1			1	
NIN	0	LGGM	GRCh37	14	51223859	51223859	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	42	26	.	.	ENST00000382041.3:c.3889A>G	p.Met1297Val	p.M1297V	ENST00000382041	NM_016350.4	1297	Atg/Gtg	0	1	1	UPI0000DBEF14	0	NA	ENST00000382041		ENSG00000100503	14906		68	-0.17		HGNC	p.M1297V		NIN		SNV			1				ENST00000382041	protein_coding	getma.org/?cm=var&var=hg19,14,51223859,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11		M/V		C	neutral	4080/6496		getma.org/?cm=msa&ty=f&p=NIN_HUMAN&rb=621&re=2088&var=M1297V	tolerated(1)	H7C162_HUMAN,E9PJH9_HUMAN			YES	NIN,missense_variant,p.Met1297Val,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Met1297Val,ENST00000530997,;NIN,missense_variant,p.Met1297Val,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Met1297Val,ENST00000324330,;NIN,missense_variant,p.Met1297Val,ENST00000382041,NM_016350.4,NM_182946.1;NIN,missense_variant,p.Met788Val,ENST00000530853,;NIN,missense_variant,p.Met788Val,ENST00000389869,;NIN,intron_variant,,ENST00000389868,;NIN,intron_variant,,ENST00000382043,;NIN,missense_variant,p.Met1297Val,ENST00000476352,;							MODERATE	3889/6273	M1297V	NIN_HUMAN			Transcript		benign(0)	.	ENSP00000371472		CCDS32079.1			1	
ADAMTS19	0	LGGM	GRCh37	5	129070671	129070671	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	48	26	.	.	ENST00000274487.4:c.3341G>T	p.Cys1114Phe	p.C1114F	ENST00000274487	NM_133638.3	1114	tGc/tTc	0	1	1	UPI000013DA0D	0	NA	ENST00000274487		ENSG00000145808	17111		74	4.065		HGNC	p.C1114F	rs773267304	ADAMTS19		SNV							ENST00000274487	protein_coding	getma.org/?cm=var&var=hg19,5,129070671,G,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		C/F		T	high	3486/5234	1.50E-05	getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=1092&re=1143&var=C1114F	deleterious(0)				YES	ADAMTS19,missense_variant,p.Cys1114Phe,ENST00000274487,NM_133638.3;CTC-575N7.1,non_coding_transcript_exon_variant,,ENST00000503616,;ADAMTS19,non_coding_transcript_exon_variant,,ENST00000509467,;							MODERATE	3341/3624	C1114F	ATS19_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274487	8.24E-06	CCDS4146.1			1	
OXCT1	0	LGGM	GRCh37	5	41842798	41842798	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	83	26	.	.	ENST00000196371.5:c.650G>A	p.Arg217Gln	p.R217Q	ENST00000196371	NM_000436.3	217	cGa/cAa	0	1	1	UPI0000000C9A	0	getma.org/pdb.php?prot=SCOT1_HUMAN&from=43&to=272&var=R217Q	ENST00000196371		ENSG00000083720	8527		109	2.265		HGNC	p.R217Q		OXCT1		SNV			1				ENST00000196371	protein_coding	getma.org/?cm=var&var=hg19,5,41842798,C,T&fts=all		hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF30,Pfam_domain:PF01144,Gene3D:3.40.1080.10,TIGRFAM_domain:TIGR02429,PIRSF_domain:PIRSF000858,SMART_domains:SM00882,Superfamily_domains:SSF100950		R/Q		T	medium	811/3388		getma.org/?cm=msa&ty=f&p=SCOT1_HUMAN&rb=43&re=272&var=R217Q	tolerated(0.09)	B7Z528_HUMAN,A1E286_HUMAN			YES	OXCT1,missense_variant,p.Arg217Gln,ENST00000196371,NM_000436.3;OXCT1,missense_variant,p.Arg31Gln,ENST00000509987,;OXCT1,non_coding_transcript_exon_variant,,ENST00000514723,;							MODERATE	650/1563	R217Q	SCOT1_HUMAN			Transcript		benign(0.002)	.	ENSP00000196371		CCDS3937.1			1	
TRERF1	0	LGGM	GRCh37	6	42214225	42214225	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	31	28	.	.	ENST00000372922.4:c.2714A>G	p.Tyr905Cys	p.Y905C	ENST00000372922	NM_033502.2	905	tAc/tGc	0	1	1	UPI0000052952	0	getma.org/pdb.php?prot=TREF1_HUMAN&from=885&to=936&var=Y905C	ENST00000372922		ENSG00000124496	18273		59	2.11		HGNC	p.Y822C		TRERF1		SNV							ENST00000340840	protein_coding	getma.org/?cm=var&var=hg19,6,42214225,T,C&fts=all		PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689		Y/C		C	medium	3277/7286		getma.org/?cm=msa&ty=f&p=TREF1_HUMAN&rb=885&re=936&var=Y905C	tolerated(0.1)				YES	TRERF1,missense_variant,p.Tyr925Cys,ENST00000541110,;TRERF1,missense_variant,p.Tyr822Cys,ENST00000372917,;TRERF1,missense_variant,p.Tyr905Cys,ENST00000372922,NM_033502.2;TRERF1,missense_variant,p.Tyr822Cys,ENST00000340840,;TRERF1,missense_variant,p.Tyr822Cys,ENST00000354325,;							MODERATE	2714/3603	Y905C	TREF1_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000362013		CCDS4867.1			1	
COL21A1	0	LGGM	GRCh37	6	55922470	55922470	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	36	29	.	.	ENST00000244728.5:c.2859A>T	p.Lys953Asn	p.K953N	ENST00000244728	NM_030820.3	953	aaA/aaT	0	1	1	UPI0000071DFE	0	NA	ENST00000244728		ENSG00000124749	17025		65	2.44		HGNC	p.K319N		COL21A1		SNV							ENST00000370808	protein_coding	getma.org/?cm=var&var=hg19,6,55922470,T,A&fts=all				K/N		A	medium	3257/4339		getma.org/?cm=msa&ty=f&p=COLA1_HUMAN&rb=909&re=957&var=K953N	deleterious(0)	A6PVD9_HUMAN			YES	COL21A1,missense_variant,p.Lys953Asn,ENST00000244728,NM_030820.3;COL21A1,missense_variant,p.Lys953Asn,ENST00000535941,;COL21A1,missense_variant,p.Lys950Asn,ENST00000370819,;COL21A1,missense_variant,p.Lys319Asn,ENST00000370808,;COL21A1,non_coding_transcript_exon_variant,,ENST00000467045,;COL21A1,downstream_gene_variant,,ENST00000467216,;COL21A1,3_prime_UTR_variant,,ENST00000488912,;COL21A1,non_coding_transcript_exon_variant,,ENST00000482933,;							MODERATE	2859/2874	K953N	COLA1_HUMAN			Transcript		unknown(0)	.	ENSP00000244728		CCDS55025.1			1	
GPR78	0	LGGM	GRCh37	4	8589069	8589069	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	26	31	.	.	ENST00000382487.4:c.1071C>T	p.Ser357=	p.S357=	ENST00000382487	NM_080819.4	357	tcC/tcT	0	1	1	UPI0000037A5F	0		ENST00000382487		ENSG00000155269	4528		57			HGNC	p.S357S		GPR78		SNV							ENST00000382487	protein_coding			hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF5		S		T		1488/1694				D6RB95_HUMAN,B2R7M4_HUMAN			YES	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,;							LOW	1071/1092		GPR78_HUMAN			Transcript			.	ENSP00000371927		CCDS3403.1			1	
HNRNPUL1	0	LGGM	GRCh37	19	41798166	41798166	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	58	31	.	.	ENST00000392006.3:c.1016A>G	p.Asn339Ser	p.N339S	ENST00000392006	NM_007040.3	339	aAt/aGt	0	1	1	UPI000013D3F4	0	getma.org/pdb.php?prot=HNRL1_HUMAN&from=254&to=387&var=N339S	ENST00000392006		ENSG00000105323	17011		89	-0.365		HGNC	p.N225S		HNRNPUL1		SNV							ENST00000378215	protein_coding	getma.org/?cm=var&var=hg19,19,41798166,A,G&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		N/S		G	neutral	1189/3555		getma.org/?cm=msa&ty=f&p=HNRL1_HUMAN&rb=254&re=387&var=N339S	tolerated(0.2)	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN			YES	HNRNPUL1,missense_variant,p.Asn339Ser,ENST00000392006,NM_007040.3;HNRNPUL1,missense_variant,p.Asn239Ser,ENST00000352456,NM_144732.2;HNRNPUL1,missense_variant,p.Asn250Ser,ENST00000263367,;HNRNPUL1,missense_variant,p.Asn339Ser,ENST00000602130,;HNRNPUL1,missense_variant,p.Asn225Ser,ENST00000378215,;HNRNPUL1,missense_variant,p.Asn239Ser,ENST00000595018,;HNRNPUL1,missense_variant,p.Asn239Ser,ENST00000593587,;HNRNPUL1,missense_variant,p.Asn188Ser,ENST00000599614,;HNRNPUL1,missense_variant,p.Asn239Ser,ENST00000599719,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,3_prime_UTR_variant,,ENST00000600596,;							MODERATE	1016/2571	N339S	HNRL1_HUMAN			Transcript		unknown(0)	.	ENSP00000375863		CCDS12576.1			1	
SERPINC1	0	LGGM	GRCh37	1	173883958	173883958	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	82	35	.	.	ENST00000367698.3:c.141T>G	p.Ile47Met	p.I47M	ENST00000367698	NM_000488.3	47	atT/atG	0	1	1	UPI000002C0C1	0	getma.org/pdb.php?prot=ANT3_HUMAN&from=1&to=84&var=I47M	ENST00000367698		ENSG00000117601	775		117	2.135		HGNC	p.I47M		SERPINC1		SNV			1				ENST00000367698	protein_coding	getma.org/?cm=var&var=hg19,1,173883958,A,C&fts=all		Superfamily_domains:SSF56574		I/M		C	medium	260/1594		getma.org/?cm=msa&ty=f&p=ANT3_HUMAN&rb=1&re=84&var=I47M	deleterious(0.01)	Q9UE54_HUMAN,Q9UBW9_HUMAN,Q8J001_HUMAN			YES	SERPINC1,missense_variant,p.Ile47Met,ENST00000367698,NM_000488.3;SERPINC1,non_coding_transcript_exon_variant,,ENST00000494024,;SERPINC1,upstream_gene_variant,,ENST00000487183,;							MODERATE	141/1395	I47M	ANT3_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000356671		CCDS1313.1			1	
EIF6	0	LGGM	GRCh37	20	33872222	33872222	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	62	36	.	.	ENST00000374450.3:c.69C>G	p.Tyr23Ter	p.Y23*	ENST00000374450	NM_002212.3	23	taC/taG	0	1		UPI0000001224	0	NA	ENST00000374436		ENSG00000242372	6159		98	0		HGNC	p.Y23X		EIF6		SNV							ENST00000415116	protein_coding	getma.org/?cm=var&var=hg19,20,33872222,G,C&fts=all		Superfamily_domains:SSF55909,PIRSF_domain:PIRSF006413,SMART_domains:SM00654,TIGRFAM_domain:TIGR00323,Gene3D:3.75.10.10,Pfam_domain:PF01912,hmmpanther:PTHR10784,hmmpanther:PTHR10784:SF0,HAMAP:MF_00032		Y/*		C	NA	297/1252		NA		B7ZBH1_HUMAN				EIF6,stop_gained,p.Tyr23Ter,ENST00000374450,NM_002212.3;EIF6,stop_gained,p.Tyr23Ter,ENST00000374436,NM_181468.2,NM_001267810.1;EIF6,stop_gained,p.Tyr23Ter,ENST00000374443,NM_181466.2;EIF6,stop_gained,p.Tyr23Ter,ENST00000456600,;FAM83C,downstream_gene_variant,,ENST00000374408,NM_178468.5;RP4-614O4.11,upstream_gene_variant,,ENST00000444717,;FAM83C-AS1,upstream_gene_variant,,ENST00000429167,;EIF6,non_coding_transcript_exon_variant,,ENST00000462894,;EIF6,stop_gained,p.Tyr23Ter,ENST00000447927,;EIF6,stop_gained,p.Tyr23Ter,ENST00000440766,;EIF6,stop_gained,p.Tyr23Ter,ENST00000415116,;							HIGH	69/738	Y23*	IF6_HUMAN			Transcript			.	ENSP00000363559		CCDS13249.1			1	
ZNF766	0	LGGM	GRCh37	19	52793894	52793894	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	56	37	.	.	ENST00000439461.1:c.850A>G	p.Thr284Ala	p.T284A	ENST00000439461	NM_001010851.2	284	Aca/Gca	0	1	1	UPI0000202AF7	0	getma.org/pdb.php?prot=ZN766_HUMAN&from=283&to=284&var=T284A	ENST00000439461		ENSG00000196214	28063		93	-0.425		HGNC	p.T299A		ZNF766		SNV							ENST00000359102	protein_coding	getma.org/?cm=var&var=hg19,19,52793894,A,G&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/A		G	neutral	893/2975		getma.org/?cm=msa&ty=f&p=ZN766_HUMAN&rb=253&re=314&var=T284A	tolerated(0.13)	M0R1P9_HUMAN,M0R139_HUMAN,M0QXI4_HUMAN			YES	ZNF766,missense_variant,p.Thr284Ala,ENST00000439461,NM_001010851.2;ZNF766,missense_variant,p.Thr299Ala,ENST00000593612,;ZNF766,missense_variant,p.Thr299Ala,ENST00000359102,;ZNF766,3_prime_UTR_variant,,ENST00000599581,;ZNF766,downstream_gene_variant,,ENST00000600821,;ZNF766,downstream_gene_variant,,ENST00000595000,;ZNF766,downstream_gene_variant,,ENST00000593703,;ZNF766,downstream_gene_variant,,ENST00000595149,;CTD-2525I3.5,intron_variant,,ENST00000594865,;							MODERATE	850/1407	T284A	ZN766_HUMAN			Transcript		benign(0.005)	.	ENSP00000409652		CCDS46163.1			1	
L2HGDH	0	LGGM	GRCh37	14	50768848	50768848	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	50	38	.	.	ENST00000267436.4:c.295A>T	p.Ser99Cys	p.S99C	ENST00000267436		99	Agt/Tgt	0	1	1	UPI0000048F63	0	getma.org/pdb.php?prot=L2HDH_HUMAN&from=50&to=455&var=S99C	ENST00000267436		ENSG00000087299	20499		88	1.89		HGNC	p.S99C		L2HGDH		SNV			1				ENST00000267436	protein_coding	getma.org/?cm=var&var=hg19,14,50768848,T,A&fts=all		hmmpanther:PTHR13847:SF171,hmmpanther:PTHR13847,Pfam_domain:PF01266,Gene3D:3.50.50.60,Superfamily_domains:SSF51905		S/C		A	low	693/3446		getma.org/?cm=msa&ty=f&p=L2HDH_HUMAN&rb=50&re=455&var=S99C	tolerated(0.1)				YES	L2HGDH,missense_variant,p.Ser99Cys,ENST00000267436,;L2HGDH,missense_variant,p.Ser99Cys,ENST00000421284,NM_024884.2;L2HGDH,missense_variant,p.Ser99Cys,ENST00000261699,;L2HGDH,missense_variant,p.Ser99Cys,ENST00000555423,;L2HGDH,missense_variant,p.Ser99Cys,ENST00000555610,;MIR4504,upstream_gene_variant,,ENST00000577413,;L2HGDH,non_coding_transcript_exon_variant,,ENST00000556393,;L2HGDH,3_prime_UTR_variant,,ENST00000554191,;							MODERATE	295/1392	S99C	L2HDH_HUMAN			Transcript		possibly_damaging(0.464)	.	ENSP00000267436		CCDS9698.1			1	
EPS15L1	0	LGGM	GRCh37	19	16506267	16506267	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	54	39	.	.	ENST00000455140.2:c.1803C>T	p.Phe601=	p.F601=	ENST00000455140	NM_001258374.1	601	ttC/ttT	0	1		UPI0000073E6D	0		ENST00000248070		ENSG00000127527	24634		93			HGNC	p.F603F		EPS15L1		SNV							ENST00000594975	protein_coding			hmmpanther:PTHR11216:SF69,hmmpanther:PTHR11216		F		A		1943/2924				B4DME4_HUMAN				EPS15L1,synonymous_variant,p.=,ENST00000455140,NM_001258374.1;EPS15L1,synonymous_variant,p.=,ENST00000248070,NM_021235.2;EPS15L1,synonymous_variant,p.=,ENST00000535753,NM_001258375.1;EPS15L1,synonymous_variant,p.=,ENST00000594975,;EPS15L1,synonymous_variant,p.=,ENST00000599790,;RN7SL844P,downstream_gene_variant,,ENST00000473320,;EPS15L1,synonymous_variant,p.=,ENST00000602022,;EPS15L1,3_prime_UTR_variant,,ENST00000592031,;							LOW	1803/2595		EP15R_HUMAN			Transcript			.	ENSP00000248070		CCDS32944.1			1	
FRMPD1	0	LGGM	GRCh37	9	37746110	37746110	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	81	40	.	.	ENST00000539465.1:c.4081C>T	p.His1361Tyr	p.H1361Y	ENST00000539465		1361	Cac/Tac	0	1		UPI000013D2CC	0	NA	ENST00000377765		ENSG00000070601	29159		121	0.695		HGNC	p.H1361Y		FRMPD1		SNV							ENST00000539465	protein_coding	getma.org/?cm=var&var=hg19,9,37746110,C,T&fts=all		hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		H/Y		T	neutral	4180/4971		getma.org/?cm=msa&ty=f&p=FRPD1_HUMAN&rb=1355&re=1406&var=H1361Y	tolerated(1)	F5H0G3_HUMAN				FRMPD1,missense_variant,p.His1361Tyr,ENST00000539465,;FRMPD1,missense_variant,p.His1361Tyr,ENST00000377765,NM_014907.2;FRMPD1,downstream_gene_variant,,ENST00000536622,;FRMPD1,downstream_gene_variant,,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;							MODERATE	4081/4737	H1361Y	FRPD1_HUMAN			Transcript		benign(0.002)	.	ENSP00000366995		CCDS6612.1			1	
FAM90A1	0	LGGM	GRCh37	12	8376801	8376801	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093428	H093428N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	146	41	.	.	ENST00000538603.1:c.134A>G	p.Lys45Arg	p.K45R	ENST00000538603	NM_018088.3	45	aAa/aGa	0	1		UPI000013EC10	0	NA	ENST00000307435		ENSG00000171847	25526		187	0.06		HGNC	p.K45R		FAM90A1		SNV							ENST00000307435	protein_coding	getma.org/?cm=var&var=hg19,12,8376801,T,C&fts=all		Pfam_domain:PF15288,hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF8		K/R		C	neutral	519/2342		getma.org/?cm=msa&ty=f&p=F90A1_HUMAN&rb=1&re=463&var=K45R	tolerated(0.27)					FAM90A1,missense_variant,p.Lys45Arg,ENST00000538603,NM_018088.3;FAM90A1,missense_variant,p.Lys45Arg,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;ALG1L10P,upstream_gene_variant,,ENST00000437882,;							MODERATE	134/1395	K45R	F90A1_HUMAN			Transcript		benign(0.156)	.	ENSP00000307798		CCDS31738.1			1	
PLA1A	0	LGGM	GRCh37	3	119325666	119325666	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	68	42	.	.	ENST00000273371.4:c.119G>A	p.Ser40Asn	p.S40N	ENST00000273371	NM_015900.3	40	aGc/aAc	0	1	1	UPI0000073F97	0	NA	ENST00000273371		ENSG00000144837	17661		110	-0.95		HGNC	p.S24N	rs779448679	PLA1A	6.06E-05	SNV							ENST00000494440	protein_coding	getma.org/?cm=var&var=hg19,3,119325666,G,A&fts=all		Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Pfam_domain:PF00151,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF86		S/N		A	neutral	191/1786		getma.org/?cm=msa&ty=f&p=PLA1A_HUMAN&rb=15&re=336&var=S40N	tolerated(1)				YES	PLA1A,missense_variant,p.Ser40Asn,ENST00000273371,NM_015900.3;PLA1A,missense_variant,p.Ser24Asn,ENST00000494440,;PLA1A,missense_variant,p.Ser40Asn,ENST00000495992,NM_001206960.1;PLA1A,intron_variant,,ENST00000488919,NM_001206961.1;PLA1A,upstream_gene_variant,,ENST00000475963,;PLA1A,non_coding_transcript_exon_variant,,ENST00000472126,;							MODERATE	119/1371	S40N	PLA1A_HUMAN			Transcript		benign(0.001)	.	ENSP00000273371	8.24E-06	CCDS2991.1			1	
TAS2R4	0	LGGM	GRCh37	7	141478471	141478471	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	62	42	.	.	ENST00000247881.2:c.183A>G	p.Leu61=	p.L61=	ENST00000247881	NM_016944.1	61	ctA/ctG	0	1	1	UPI0000038B0C	0		ENST00000247881		ENSG00000127364	14911		104			HGNC	p.L61L		TAS2R4		SNV							ENST00000247881	protein_coding			Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF55,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		G		230/994				Q50KX7_HUMAN,Q50KX5_HUMAN			YES	TAS2R4,synonymous_variant,p.=,ENST00000247881,NM_016944.1;SSBP1,intron_variant,,ENST00000465582,;							LOW	183/900		TA2R4_HUMAN			Transcript			.	ENSP00000247881		CCDS5868.1			1	
SLC39A1	0	LGGM	GRCh37	1	153934719	153934719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	109	42	.	.	ENST00000368623.3:c.295G>A	p.Ala99Thr	p.A99T	ENST00000368623		99	Gcc/Acc	0	1		UPI000006DDFE	0	NA	ENST00000310483		ENSG00000143570	12876		151	1.81		HGNC	p.A99T		SLC39A1		SNV							ENST00000368623	protein_coding	getma.org/?cm=var&var=hg19,1,153934719,C,T&fts=all		hmmpanther:PTHR11040,hmmpanther:PTHR11040:SF30,Pfam_domain:PF02535		A/T		T	low	761/2427		getma.org/?cm=msa&ty=f&p=S39A1_HUMAN&rb=27&re=320&var=A99T	tolerated(0.14)	Q5T4K4_HUMAN,Q5T4K3_HUMAN,Q5T4K2_HUMAN,B4DNN0_HUMAN				SLC39A1,missense_variant,p.Ala99Thr,ENST00000368623,;SLC39A1,missense_variant,p.Ala99Thr,ENST00000310483,NM_014437.4,NM_001271960.1;SLC39A1,missense_variant,p.Ala99Thr,ENST00000368621,NM_001271959.1,NM_001271957.1;SLC39A1,missense_variant,p.Ala99Thr,ENST00000356205,NM_001271958.1;SLC39A1,missense_variant,p.Ala99Thr,ENST00000429040,;SLC39A1,missense_variant,p.Ala99Thr,ENST00000413622,;SLC39A1,missense_variant,p.Ala99Thr,ENST00000417348,;SLC39A1,intron_variant,,ENST00000537590,;CRTC2,upstream_gene_variant,,ENST00000368633,NM_181715.2;CRTC2,upstream_gene_variant,,ENST00000368630,;RP11-422P24.10,upstream_gene_variant,,ENST00000608147,;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,;							MODERATE	295/975	A99T	S39A1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000309710		CCDS1055.1			1	
IL19	0	LGGM	GRCh37	1	207013302	207013302	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	128	44	.	.	ENST00000340758.2:c.432C>T	p.Ser144=	p.S144=	ENST00000340758	NM_153758.2	144	agC/agT	0	1		UPI0000035988	0		ENST00000270218		ENSG00000142224	5990		172			HGNC	p.S144S		IL19		SNV							ENST00000340758	protein_coding			Superfamily_domains:SSF47266,Gene3D:1.20.1250.10,Pfam_domain:PF00726,hmmpanther:PTHR11585:SF10,hmmpanther:PTHR11585		S		T		1257/1473								IL19,synonymous_variant,p.=,ENST00000270218,NM_013371.3;IL19,synonymous_variant,p.=,ENST00000340758,NM_153758.2;IL19,non_coding_transcript_exon_variant,,ENST00000476097,;							LOW	318/534		IL19_HUMAN			Transcript			.	ENSP00000270218		CCDS1469.1			1	
IKZF1	0	LGGM	GRCh37	7	50435893	50435893	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	78	46	.	.	ENST00000331340.3:c.161-8338C>T		*54*	ENST00000331340	NM_006060.4			0	1		UPI000012D465	0		ENST00000331340		ENSG00000185811	13176		124			HGNC	p.T117I		IKZF1		SNV			1				ENST00000413698	protein_coding							T		-/6189								IKZF1,missense_variant,p.Thr117Ile,ENST00000413698,;IKZF1,intron_variant,,ENST00000331340,NM_006060.4,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1;IKZF1,intron_variant,,ENST00000343574,NM_001220772.1,NM_001220775.1,NM_001220773.1,NM_001220769.1,NM_001220766.1;IKZF1,intron_variant,,ENST00000357364,NM_001220768.1;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,,ENST00000439701,;IKZF1,intron_variant,,ENST00000359197,;IKZF1,intron_variant,,ENST00000440768,;IKZF1,intron_variant,,ENST00000438033,;IKZF1,intron_variant,,ENST00000426121,;IKZF1,intron_variant,,ENST00000492782,;IKZF1,intron_variant,,ENST00000492119,;IKZF1,intron_variant,,ENST00000471793,;IKZF1,intron_variant,,ENST00000462201,;							MODIFIER	-/1560		IKZF1_HUMAN			Transcript			.	ENSP00000331614					1	
FLG	0	LGGM	GRCh37	1	152286884	152286884	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093428	H093428N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	123	46	.	.	ENST00000368799.1:c.478G>T	p.Glu160Ter	p.E160*	ENST00000368799	NM_002016.1	160	Gaa/Taa	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		169	0		HGNC	p.E160X		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152286884,C,A&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21		E/*		A	NA	514/12747		NA		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,stop_gained,p.Glu160Ter,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							HIGH	478/12186	E160*	FILA_HUMAN			Transcript			.	ENSP00000357789		CCDS30860.1			1	
ANAPC7	0	LGGM	GRCh37	12	110824257	110824257	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093428	H093428N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	95	47	.	.	ENST00000455511.3:c.794C>A	p.Ser265Tyr	p.S265Y	ENST00000455511	NM_016238.2	265	tCc/tAc	0	1	1	UPI0000EE28AF	0	NA	ENST00000455511		ENSG00000196510	17380		142	1.04		HGNC	p.S265Y		ANAPC7		SNV							ENST00000455511	protein_coding	getma.org/?cm=var&var=hg19,12,110824257,G,T&fts=all		hmmpanther:PTHR12558:SF8,hmmpanther:PTHR12558,Gene3D:1.25.40.10		S/Y		T	low	795/3045		getma.org/?cm=msa&ty=f&p=APC7_HUMAN&rb=201&re=336&var=S265Y	tolerated(0.07)	Q69YV3_HUMAN,Q4KMX6_HUMAN			YES	ANAPC7,missense_variant,p.Ser265Tyr,ENST00000455511,NM_016238.2;ANAPC7,missense_variant,p.Ser265Tyr,ENST00000450008,NM_001137664.1;ANAPC7,upstream_gene_variant,,ENST00000552087,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000546720,;ANAPC7,3_prime_UTR_variant,,ENST00000552170,;ANAPC7,non_coding_transcript_exon_variant,,ENST00000548234,;RP11-478C19.2,downstream_gene_variant,,ENST00000550231,;ANAPC7,upstream_gene_variant,,ENST00000471602,;ANAPC7,downstream_gene_variant,,ENST00000464697,;							MODERATE	794/1800	S265Y	APC7_HUMAN			Transcript		possibly_damaging(0.648)	.	ENSP00000394394		CCDS9145.2			1	
SCN7A	0	LGGM	GRCh37	2	167262771	167262771	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	91	62	.	.	ENST00000409855.1:c.4368T>A	p.Ile1456=	p.I1456=	ENST00000409855	NM_002976.3	1456	atT/atA	0	1	1	UPI0000209019	0		ENST00000409855		ENSG00000136546	10594		153			HGNC	p.I1456I		SCN7A		SNV							ENST00000409855	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF14		I		T		4495/7183				Q16278_HUMAN,C9JW43_HUMAN,C9JII9_HUMAN			YES	SCN7A,synonymous_variant,p.=,ENST00000409855,NM_002976.3;SCN7A,3_prime_UTR_variant,,ENST00000424326,;							LOW	4368/5049		SCN7A_HUMAN			Transcript			.	ENSP00000386796		CCDS46442.1			1	
TTN	0	LGGM	GRCh37	2	179422667	179422667	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093428	H093428N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093428N.bam, H093428T.bam	Illumina HiSeq	142	72	.	.	ENST00000589042.1:c.87414T>A	p.Pro29138=	p.P29138=	ENST00000589042	NM_001267550.1	29138	ccT/ccA	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		214			HGNC	p.P20198P		TTN		SNV			1				ENST00000359218	protein_coding			hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF48726,Superfamily_domains:SSF49265		P		T		82716/104301				C9JQJ2_HUMAN				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,;							LOW	82491/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ADGB	0	LGGM	GRCh37	6	147038145	147038145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093471	H093471N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	41	3	.	.	ENST00000397944.3:c.1868C>A	p.Thr623Lys	p.T623K	ENST00000397944	NM_024694.3	623	aCa/aAa	0	1	1	UPI000020E382	0	NA	ENST00000397944		ENSG00000118492	21212		44	0		HGNC	p.T42K		ADGB		SNV							ENST00000367493	protein_coding	getma.org/?cm=var&var=hg19,6,147038145,C,A&fts=all		hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF283,SMART_domains:SM00230		T/K		A	neutral	1944/5325		getma.org/?cm=msa&ty=f&p=ADGB_HUMAN&rb=601&re=800&var=T623K	tolerated(0.9)				YES	ADGB,missense_variant,p.Thr623Lys,ENST00000397944,NM_024694.3;ADGB,missense_variant,p.Thr42Lys,ENST00000367493,;ADGB,missense_variant,p.Thr43Lys,ENST00000480328,;ADGB,3_prime_UTR_variant,,ENST00000493950,;ADGB,non_coding_transcript_exon_variant,,ENST00000326929,;							MODERATE	1868/5004	T623K	ADGB_HUMAN			Transcript		benign(0.013)	.	ENSP00000381036					1	
SLC9A5	0	LGGM	GRCh37	16	67304928	67304928	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093471	H093471N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	30	3	.	.	ENST00000299798.11:c.2506C>A	p.Arg836Ser	p.R836S	ENST00000299798	NM_004594.2	836	Cgc/Agc	0	1	1	UPI000012FD2D	0	NA	ENST00000299798		ENSG00000135740	11078		33	0.55		HGNC	p.R836S		SLC9A5		SNV							ENST00000299798	protein_coding	getma.org/?cm=var&var=hg19,16,67304928,C,A&fts=all		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF56		R/S		A	neutral	2571/3736		getma.org/?cm=msa&ty=f&p=SL9A5_HUMAN&rb=656&re=855&var=R836S	tolerated_low_confidence(0.88)				YES	SLC9A5,missense_variant,p.Arg836Ser,ENST00000299798,NM_004594.2;SLC9A5,downstream_gene_variant,,ENST00000566626,;SLC9A5,3_prime_UTR_variant,,ENST00000564812,;SLC9A5,non_coding_transcript_exon_variant,,ENST00000564704,;SLC9A5,non_coding_transcript_exon_variant,,ENST00000563723,;							MODERATE	2506/2691	R836S	SL9A5_HUMAN			Transcript		benign(0)	.	ENSP00000299798		CCDS42178.1			1	
DLGAP2	0	LGGM	GRCh37	8	1497567	1497567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093471	H093471N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	37	3	.	.	ENST00000421627.2:c.708C>A	p.Asn236Lys	p.N236K	ENST00000421627	NM_004745.4	236	aaC/aaA	0	1	1	UPI000021BFBC	0	NA	ENST00000421627		ENSG00000198010	2906		40	1.79		HGNC	p.N236K		DLGAP2		SNV							ENST00000421627	protein_coding	getma.org/?cm=var&var=hg19,8,1497567,C,A&fts=all		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3		N/K		A	low	842/10132		getma.org/?cm=msa&ty=f&p=DLGP2_HUMAN&rb=201&re=400&var=N315K	tolerated(0.43)				YES	DLGAP2,missense_variant,p.Asn236Lys,ENST00000421627,NM_004745.4,NM_001277161.1;DLGAP2,missense_variant,p.Asn253Lys,ENST00000520901,;							MODERATE	708/2928	N315K	DLGP2_HUMAN			Transcript		benign(0.001)	.	ENSP00000400258		CCDS47760.1			1	
RTL1	0	LGGM	GRCh37	14	101348162	101348162	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093471	H093471N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	84	4	.	.	ENST00000534062.1:c.2964C>T	p.Asp988=	p.D988=	ENST00000534062	NM_001134888.2	988	gaC/gaT	0	1	1	UPI00001D7B9E	0		ENST00000534062		ENSG00000254656	14665		88			HGNC	p.D988D	rs774039568	RTL1		SNV			1	0.000196			ENST00000534062	protein_coding					D		A		3023/4193							YES	RTL1,synonymous_variant,p.=,ENST00000534062,NM_001134888.2;MIR433,upstream_gene_variant,,ENST00000384837,;MIR431,downstream_gene_variant,,ENST00000385266,;MIR127,upstream_gene_variant,,ENST00000384876,;MIR432,upstream_gene_variant,,ENST00000606207,;MIR136,upstream_gene_variant,,ENST00000385207,;							LOW	2964/4077		RTL1_HUMAN			Transcript			.	ENSP00000435342	1.65E-05	CCDS53910.1			1	
CACNA1A	0	LGGM	GRCh37	19	13476226	13476226	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093471	H093471N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	65	4	.	.	ENST00000360228.5:c.689G>T	p.Gly230Val	p.G230V	ENST00000360228	NM_001127222.1	230	gGc/gTc	0	1	1	UPI0000141565	0	getma.org/pdb.php?prot=CAC1A_HUMAN&from=136&to=359&var=G230V	ENST00000360228		ENSG00000141837	1388		69	1.27		HGNC	p.G230V		CACNA1A		SNV			1				ENST00000325084	protein_coding	getma.org/?cm=var&var=hg19,19,13476226,C,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		G/V		A	low	689/8392		getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=136&re=359&var=G230V		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,missense_variant,p.Gly230Val,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Gly230Val,ENST00000573710,NM_001127221.1;CACNA1A,upstream_gene_variant,,ENST00000593160,;							MODERATE	689/7521	G230V	CAC1A_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000353362		CCDS45998.1			1	
AKR1C2	0	LGGM	GRCh37	10	5045979	5045979	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093471	H093471N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	142	5	.	.	ENST00000380753.4:c.49C>T	p.Pro17Ser	p.P17S	ENST00000380753	NM_205845.2	17	Cct/Tct	0	1	1	UPI0000111D9F	0	getma.org/pdb.php?prot=AK1C2_HUMAN&from=1&to=17&var=P17S	ENST00000380753		ENSG00000151632	385		147	3.875		HGNC	p.P17S		AKR1C2		SNV			1				ENST00000380753	protein_coding	getma.org/?cm=var&var=hg19,10,5045979,G,A&fts=all		Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732		P/S		A	high	237/3381		getma.org/?cm=msa&ty=f&p=AK1C2_HUMAN&rb=1&re=47&var=P17S	deleterious(0.01)	S4R3P0_HUMAN			YES	AKR1C2,missense_variant,p.Pro17Ser,ENST00000380753,NM_205845.2;AKR1C2,missense_variant,p.Pro17Ser,ENST00000407674,NM_001354.5;AKR1C2,missense_variant,p.Pro17Ser,ENST00000421196,;AKR1C2,missense_variant,p.Pro17Ser,ENST00000455190,NM_001135241.2;AKR1C2,missense_variant,p.Pro17Ser,ENST00000604507,;U8,upstream_gene_variant,,ENST00000459141,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000604184,;AKR1C2,downstream_gene_variant,,ENST00000604428,;AKR1C2,downstream_gene_variant,,ENST00000604711,;AKR1C2,non_coding_transcript_exon_variant,,ENST00000460124,;							MODERATE	49/972	P17S	AK1C2_HUMAN			Transcript		possibly_damaging(0.882)	.	ENSP00000370129		CCDS7062.1			1	
ERCC2	0	LGGM	GRCh37	19	45872387	45872387	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093471	H093471N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	55	5	.	.	ENST00000391945.4:c.124A>C	p.Met42Leu	p.M42L	ENST00000391945	NM_000400.3	42	Atg/Ctg	0	1	1	UPI0000139012	0	getma.org/pdb.php?prot=ERCC2_HUMAN&from=7&to=283&var=M42L	ENST00000391945		ENSG00000104884	3434		60	3.82		HGNC	p.M18L		ERCC2		SNV			1				ENST00000391941	protein_coding	getma.org/?cm=var&var=hg19,19,45872387,T,G&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488,Superfamily_domains:SSF52540		M/L		G	high	202/4153		getma.org/?cm=msa&ty=f&p=ERCC2_HUMAN&rb=7&re=283&var=M42L	deleterious(0)	K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,missense_variant,p.Met42Leu,ENST00000391945,NM_000400.3;ERCC2,missense_variant,p.Met18Leu,ENST00000391941,;ERCC2,missense_variant,p.Met42Leu,ENST00000391944,;ERCC2,missense_variant,p.Met18Leu,ENST00000485403,NM_001130867.1;ERCC2,missense_variant,p.Met18Leu,ENST00000391940,;ERCC2,missense_variant,p.Met18Leu,ENST00000586131,;ERCC2,missense_variant,p.Met42Leu,ENST00000221481,;ERCC2,intron_variant,,ENST00000586856,;ERCC2,missense_variant,p.Met42Leu,ENST00000591309,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586441,;ERCC2,non_coding_transcript_exon_variant,,ENST00000586737,;							MODERATE	124/2283	M42L	ERCC2_HUMAN			Transcript		benign(0.19)	.	ENSP00000375809		CCDS33049.1			1	
EPHA6	0	LGGM	GRCh37	3	97167525	97167525	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093471	H093471N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	139	5	.	.	ENST00000389672.5:c.1845A>G	p.Thr615=	p.T615=	ENST00000389672	NM_001080448.2	615	acA/acG	0	1	1	UPI000004BB12	0		ENST00000389672		ENSG00000080224	19296		144			HGNC	p.T615T		EPHA6		SNV							ENST00000389672	protein_coding			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		T		G		1883/3971				H0Y8K5_HUMAN			YES	EPHA6,synonymous_variant,p.=,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,;							LOW	1845/3393					Transcript			.	ENSP00000374323		CCDS46876.1			1	
IFNW1	0	LGGM	GRCh37	9	21141452	21141452	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093471	H093471N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	98	6	.	.	ENST00000380229.2:c.118C>G	p.Leu40Val	p.L40V	ENST00000380229	NM_002177.1	40	Ctt/Gtt	0	1	1	UPI000002C6DC	0	getma.org/pdb.php?prot=IFNW1_HUMAN&from=26&to=187&var=L40V	ENST00000380229		ENSG00000177047	5448	8.64E-05	104	2.27		HGNC	p.L40V	rs373678065	IFNW1		SNV	C:0.0005			0.000578			ENST00000380229	protein_coding	getma.org/?cm=var&var=hg19,9,21141452,G,C&fts=all	C:0.0008	Superfamily_domains:SSF47266,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691		L/V	C:0	C	medium	693/1514		getma.org/?cm=msa&ty=f&p=IFNW1_HUMAN&rb=26&re=187&var=L40V	tolerated(0.08)		C:0	C:0	YES	IFNW1,missense_variant,p.Leu40Val,ENST00000380229,NM_002177.1;		C:0.0002					MODERATE	118/588	L40V	IFNW1_HUMAN		C:0	Transcript		benign(0.28)	common_variant	ENSP00000369578	5.77E-05	CCDS6496.1		C:0	1	
DNAJC6	0	LGGM	GRCh37	1	65831757	65831757	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093471	H093471N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	97	6	.	.	ENST00000371069.4:c.421G>T	p.Asp141Tyr	p.D141Y	ENST00000371069	NM_001256864.1	141	Gac/Tac	0	1		UPI000007355D	0	getma.org/pdb.php?prot=AUXI_HUMAN&from=55&to=222&var=D84Y	ENST00000395325		ENSG00000116675	15469		103	0.895		HGNC	p.D71Y	COSM911585	DNAJC6		SNV			1			1	ENST00000263441	protein_coding	getma.org/?cm=var&var=hg19,1,65831757,G,T&fts=all		Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF4,PROSITE_profiles:PS51181		D/Y		T	low	407/5743		getma.org/?cm=msa&ty=f&p=AUXI_HUMAN&rb=55&re=222&var=D84Y	deleterious(0)					DNAJC6,missense_variant,p.Asp84Tyr,ENST00000395325,NM_014787.3;DNAJC6,missense_variant,p.Asp141Tyr,ENST00000371069,NM_001256864.1;DNAJC6,missense_variant,p.Asp71Tyr,ENST00000263441,NM_001256865.1;DNAJC6,missense_variant,p.Asp115Tyr,ENST00000494710,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000463018,;DNAJC6,non_coding_transcript_exon_variant,,ENST00000472787,;DNAJC6,downstream_gene_variant,,ENST00000483402,;					1		MODERATE	250/2742	D84Y	AUXI_HUMAN			Transcript		possibly_damaging(0.646)	.	ENSP00000378735		CCDS30739.1			1	
ZNF678	0	LGGM	GRCh37	1	227842510	227842511	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	GC	novel	by Submitter	H093471	H093471N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093471N.bam, H093471T.bam	Illumina HiSeq	0	11	.	.	ENST00000343776.5:c.559_560insGC	p.Asp187GlyfsTer11	p.D187Gfs*11	ENST00000343776	NM_178549.3	187	gac/gGCac	0	1	1	UPI000019862A	0		ENST00000343776		ENSG00000181450	28652		11			HGNC	p.D187fs		ZNF678		insertion							ENST00000343776	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24409,SMART_domains:SM00355,Superfamily_domains:SSF57667		D/GX		GC		904-905/8556							YES	ZNF678,frameshift_variant,p.Asp187GlyfsTer11,ENST00000343776,NM_178549.3;ZNF678,frameshift_variant,p.Asp242GlyfsTer11,ENST00000397097,;ZNF678,intron_variant,,ENST00000608949,;ZNF678,downstream_gene_variant,,ENST00000440339,;ZNF678,downstream_gene_variant,,ENST00000465266,;							HIGH	559-560/1578		ZN678_HUMAN			Transcript			.	ENSP00000344828					1	
ZSCAN18	0	LGGM	GRCh37	19	58596420	58596420	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	6	2	.	.	ENST00000600404.1:c.1333G>A	p.Gly445Ser	p.G445S	ENST00000600404	NM_001145542.1	445	Ggc/Agc	0	1		UPI000013CABA	0	NA	ENST00000240727		ENSG00000121413	21037		8	0.695		HGNC	p.G253S	rs369240615	ZSCAN18		SNV	T:0						ENST00000421612	protein_coding	getma.org/?cm=var&var=hg19,19,58596420,C,T&fts=all		hmmpanther:PTHR10032:SF6,hmmpanther:PTHR10032		G/S	T:0.0001	T	neutral	1565/2779	2.06E-05	getma.org/?cm=msa&ty=f&p=ZSC18_HUMAN&rb=339&re=412&var=G389S	tolerated(0.79)	Q69Z04_HUMAN,M0R1U9_HUMAN				ZSCAN18,missense_variant,p.Gly389Ser,ENST00000240727,NM_023926.4;ZSCAN18,missense_variant,p.Gly389Ser,ENST00000601144,NM_001145543.1;ZSCAN18,missense_variant,p.Gly286Ser,ENST00000433686,;ZSCAN18,missense_variant,p.Gly445Ser,ENST00000600404,NM_001145542.1;ZSCAN18,missense_variant,p.Gly253Ser,ENST00000421612,NM_001145544.1;ZSCAN18,downstream_gene_variant,,ENST00000600897,;ZSCAN18,downstream_gene_variant,,ENST00000600845,;ZSCAN18,downstream_gene_variant,,ENST00000600522,;ZNF135,3_prime_UTR_variant,,ENST00000515535,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000598497,;ZSCAN18,non_coding_transcript_exon_variant,,ENST00000596372,;ZSCAN18,downstream_gene_variant,,ENST00000600318,;ZSCAN18,downstream_gene_variant,,ENST00000594191,;ZSCAN18,downstream_gene_variant,,ENST00000595784,;							MODERATE	1165/1533	G389S	ZSC18_HUMAN			Transcript		benign(0.001)	.	ENSP00000240727	1.65E-05	CCDS12971.1			1	
TST	0	LGGM	GRCh37	22	37414205	37414205	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	8	2	.	.	ENST00000403892.3:c.569G>T	p.Gly190Val	p.G190V	ENST00000403892	NM_001270483.1	190	gGc/gTc	0	1		UPI0000167B82	0	getma.org/pdb.php?prot=THTR_HUMAN&from=164&to=282&var=G190V	ENST00000249042		ENSG00000128311	12388		10	4.68		HGNC	p.G190V		TST		SNV							ENST00000249042	protein_coding	getma.org/?cm=var&var=hg19,22,37414205,C,A&fts=all		Superfamily_domains:SSF52821,SMART_domains:SM00450,Gene3D:3.40.250.10,Pfam_domain:PF00581,hmmpanther:PTHR11364:SF6,hmmpanther:PTHR11364,PROSITE_profiles:PS50206		G/V		A	high	718/1211		getma.org/?cm=msa&ty=f&p=THTR_HUMAN&rb=164&re=282&var=G190V	deleterious(0)	B1AH48_HUMAN				TST,missense_variant,p.Gly190Val,ENST00000403892,NM_001270483.1;TST,missense_variant,p.Gly190Val,ENST00000249042,NM_003312.5;MPST,upstream_gene_variant,,ENST00000397225,;MPST,upstream_gene_variant,,ENST00000341116,;MPST,upstream_gene_variant,,ENST00000404802,NM_001130517.2;MPST,upstream_gene_variant,,ENST00000397129,;MPST,upstream_gene_variant,,ENST00000401419,NM_001013436.2;MPST,upstream_gene_variant,,ENST00000429360,NM_021126.5;MPST,upstream_gene_variant,,ENST00000404393,;TST,downstream_gene_variant,,ENST00000438203,;Y_RNA,downstream_gene_variant,,ENST00000516603,;MPST,upstream_gene_variant,,ENST00000485587,;							MODERATE	569/894	G190V	THTR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000249042		CCDS13938.1			1	
SREBF1	0	LGGM	GRCh37	17	17719571	17719571	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	6	2	.	.	ENST00000355815.4:c.2254G>T	p.Ala752Ser	p.A752S	ENST00000355815	NM_001005291.2	752	Gct/Tct	0	1		UPI0000141126	0	NA	ENST00000261646		ENSG00000072310	11289		8	2.74		HGNC	p.A722S		SREBF1		SNV							ENST00000338854	protein_coding	getma.org/?cm=var&var=hg19,17,17719571,C,A&fts=all		hmmpanther:PTHR12565,hmmpanther:PTHR12565:SF5		A/S		A	medium	2349/4178		getma.org/?cm=msa&ty=f&p=SRBP1_HUMAN&rb=575&re=774&var=A722S	deleterious(0)	J3QLB6_HUMAN,B5MD58_HUMAN				SREBF1,missense_variant,p.Ala752Ser,ENST00000355815,NM_001005291.2;SREBF1,missense_variant,p.Ala722Ser,ENST00000261646,NM_004176.4;SREBF1,missense_variant,p.Ala468Ser,ENST00000395757,;SREBF1,missense_variant,p.Ala722Ser,ENST00000338854,;RAI1,downstream_gene_variant,,ENST00000353383,NM_030665.3;SREBF1,downstream_gene_variant,,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,;SREBF1,3_prime_UTR_variant,,ENST00000395751,;SREBF1,3_prime_UTR_variant,,ENST00000395756,;SREBF1,non_coding_transcript_exon_variant,,ENST00000490796,;SREBF1,non_coding_transcript_exon_variant,,ENST00000447641,;SREBF1,non_coding_transcript_exon_variant,,ENST00000584760,;SREBF1,downstream_gene_variant,,ENST00000469356,;SREBF1,upstream_gene_variant,,ENST00000485080,;SREBF1,downstream_gene_variant,,ENST00000471445,;SREBF1,upstream_gene_variant,,ENST00000581707,;SREBF1,downstream_gene_variant,,ENST00000476994,;SREBF1,upstream_gene_variant,,ENST00000578469,;SREBF1,downstream_gene_variant,,ENST00000580540,;SREBF1,downstream_gene_variant,,ENST00000583080,;SREBF1,downstream_gene_variant,,ENST00000487401,;SREBF1,downstream_gene_variant,,ENST00000470247,;							MODERATE	2164/3444	A722S	SRBP1_HUMAN			Transcript		possibly_damaging(0.488)	.	ENSP00000261646		CCDS11189.1			1	
PADI1	0	LGGM	GRCh37	1	17559379	17559379	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	4	2	.	.	ENST00000375471.4:c.1227C>G	p.Phe409Leu	p.F409L	ENST00000375471	NM_013358.2	409	ttC/ttG	0	1	1	UPI000013D8A2	0	getma.org/pdb.php?prot=PADI1_HUMAN&from=276&to=663&var=F409L	ENST00000375471		ENSG00000142623	18367		6	2.335		HGNC	p.F409L		PADI1		SNV							ENST00000375471	protein_coding	getma.org/?cm=var&var=hg19,1,17559379,C,G&fts=all		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Superfamily_domains:SSF55909		F/L		G	medium	1319/3846		getma.org/?cm=msa&ty=f&p=PADI1_HUMAN&rb=276&re=663&var=F409L	deleterious(0)	B4DQP2_HUMAN,B4DDP3_HUMAN			YES	PADI1,missense_variant,p.Phe409Leu,ENST00000375471,NM_013358.2;PADI1,upstream_gene_variant,,ENST00000536552,;PADI1,upstream_gene_variant,,ENST00000413717,;PADI1,upstream_gene_variant,,ENST00000537499,;							MODERATE	1227/1992	F409L	PADI1_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000364620		CCDS178.1			1	
POMK	0	LGGM	GRCh37	8	42977587	42977587	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	14	3	.	.	ENST00000331373.5:c.620A>G	p.Asp207Gly	p.D207G	ENST00000331373	NM_032237.4	207	gAc/gGc	0	1	1	UPI000003C970	0	getma.org/pdb.php?prot=SG196_HUMAN&from=81&to=226&var=D207G	ENST00000331373		ENSG00000185900	26267	8.69E-05	17	2.175		HGNC	p.D207G	rs770018377	POMK		SNV			1				ENST00000331373	protein_coding	getma.org/?cm=var&var=hg19,8,42977587,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22618,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		D/G		G	medium	875/1865		getma.org/?cm=msa&ty=f&p=SG196_HUMAN&rb=81&re=226&var=D207G	deleterious(0.01)	E5RJD5_HUMAN			YES	POMK,missense_variant,p.Asp207Gly,ENST00000331373,NM_032237.4,NM_001277971.1;POMK,downstream_gene_variant,,ENST00000518991,;RP11-598P20.3,downstream_gene_variant,,ENST00000517759,;							MODERATE	620/1053	D207G	SG196_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000331258	1.65E-05	CCDS6141.1	0.00111		1	
GPR45	0	LGGM	GRCh37	2	105858982	105858982	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	31	3	.	.	ENST00000258456.1:c.667C>A	p.Arg223Ser	p.R223S	ENST00000258456	NM_007227.3	223	Cgc/Agc	0	1	1	UPI000013CFD3	0	getma.org/pdb.php?prot=GPR45_HUMAN&from=51&to=324&var=R223S	ENST00000258456		ENSG00000135973	4503		34	2.735		HGNC	p.R223S		GPR45		SNV							ENST00000258456	protein_coding	getma.org/?cm=var&var=hg19,2,105858982,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF4,Superfamily_domains:SSF81321		R/S		A	medium	783/1725		getma.org/?cm=msa&ty=f&p=GPR45_HUMAN&rb=51&re=324&var=R223S	deleterious(0)	B5B0C1_HUMAN			YES	GPR45,missense_variant,p.Arg223Ser,ENST00000258456,NM_007227.3;							MODERATE	667/1119	R223S	GPR45_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000258456		CCDS2066.1			1	
FOCAD	0	LGGM	GRCh37	9	20758139	20758139	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	27	3	.	.	ENST00000380249.1:c.443G>T	p.Trp148Leu	p.W148L	ENST00000380249	NM_017794.3	148	tGg/tTg	0	1		UPI00002111D4	0	NA	ENST00000338382		ENSG00000188352	23377		30	1.04		HGNC	p.W148L		FOCAD		SNV							ENST00000338382	protein_coding	getma.org/?cm=var&var=hg19,9,20758139,G,T&fts=all		hmmpanther:PTHR16212:SF4,hmmpanther:PTHR16212,Pfam_domain:PF12530		W/L		T	low	443/5725		getma.org/?cm=msa&ty=f&p=K1797_HUMAN&rb=20&re=251&var=W148L	deleterious(0)	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN				FOCAD,missense_variant,p.Trp148Leu,ENST00000380249,NM_017794.3;FOCAD,missense_variant,p.Trp148Leu,ENST00000338382,;FOCAD,non_coding_transcript_exon_variant,,ENST00000604103,;FOCAD,non_coding_transcript_exon_variant,,ENST00000605031,;							MODERATE	443/5406	W148L	FOCAD_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000344307		CCDS34993.1			1	
TRAV9-1	0	LGGM	GRCh37	14	22279929	22279929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	16	3	.	.	ENST00000390431.3:c.118G>T	p.Val40Leu	p.V40L	ENST00000390431		40	Gtg/Ttg	0	1	1	UPI0000F3034A	0		ENST00000390431		ENSG00000211783	12153		19			HGNC	p.V40L		TRAV9-1		SNV							ENST00000390431	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF110,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		V/L		T		118/338			tolerated(1)				YES	TRAV9-1,missense_variant,p.Val40Leu,ENST00000390431,;							MODERATE	118/338					Transcript		benign(0.008)	.	ENSP00000438446					1	
SECTM1	0	LGGM	GRCh37	17	80282730	80282730	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	22	3	.	.	ENST00000269389.3:c.131C>T	p.Ser44Phe	p.S44F	ENST00000269389	NM_003004.2	44	tCt/tTt	0	1	1	UPI00000359A5	0	NA	ENST00000269389		ENSG00000141574	10707		25	1.625		HGNC	p.S44F		SECTM1		SNV							ENST00000582563	protein_coding	getma.org/?cm=var&var=hg19,17,80282730,G,A&fts=all		hmmpanther:PTHR15123,hmmpanther:PTHR15123:SF5,Gene3D:2.60.40.10		S/F		A	low	482/2235		getma.org/?cm=msa&ty=f&p=SCTM1_HUMAN&rb=1&re=149&var=S44F	deleterious(0.03)	J3QRU5_HUMAN,J3KTR4_HUMAN,J3KS40_HUMAN			YES	SECTM1,missense_variant,p.Ser44Phe,ENST00000269389,NM_003004.2;SECTM1,missense_variant,p.Ser44Phe,ENST00000580437,;SECTM1,missense_variant,p.Ser44Phe,ENST00000581691,;SECTM1,missense_variant,p.Ser44Phe,ENST00000582563,;SECTM1,missense_variant,p.Ser44Phe,ENST00000582290,;SECTM1,missense_variant,p.Ser44Phe,ENST00000581954,;SECTM1,missense_variant,p.Ser44Phe,ENST00000583093,;SECTM1,intron_variant,,ENST00000581864,;							MODERATE	131/747	S44F	SCTM1_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000269389		CCDS11808.1			1	
TPRG1	0	LGGM	GRCh37	3	189028325	189028325	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	32	3	.	.	ENST00000345063.3:c.630C>T	p.Cys210=	p.C210=	ENST00000345063	NM_198485.3	210	tgC/tgT	0	1	1	UPI00001C08BF	0		ENST00000345063		ENSG00000188001	24759		35			HGNC	p.C210C		TPRG1		SNV							ENST00000433971	protein_coding			hmmpanther:PTHR31108,hmmpanther:PTHR31108:SF2		C		T		797/5479				C9JDW1_HUMAN			YES	TPRG1,synonymous_variant,p.=,ENST00000345063,NM_198485.3;TPRG1,synonymous_variant,p.=,ENST00000433971,;TPRG1,synonymous_variant,p.=,ENST00000425670,;TPRG1,non_coding_transcript_exon_variant,,ENST00000481307,;TPRG1,non_coding_transcript_exon_variant,,ENST00000485836,;							LOW	630/828		TPRG1_HUMAN			Transcript			.	ENSP00000341031		CCDS3292.1			1	
GRB14	0	LGGM	GRCh37	2	165365039	165365039	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	39	3	.	.	ENST00000263915.3:c.949C>T	p.Arg317Ter	p.R317*	ENST00000263915	NM_004490.2	317	Cga/Tga	0	1	1	UPI000013D489	0	NA	ENST00000263915		ENSG00000115290	4565		42	0		HGNC	p.R317X		GRB14		SNV							ENST00000263915	protein_coding	getma.org/?cm=var&var=hg19,2,165365039,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF22,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/*		A	NA	1488/2382		NA		Q53QQ0_HUMAN,Q53QM9_HUMAN			YES	GRB14,stop_gained,p.Arg317Ter,ENST00000263915,NM_004490.2;GRB14,stop_gained,p.Arg230Ter,ENST00000543549,;GRB14,stop_gained,p.Arg272Ter,ENST00000446413,;GRB14,non_coding_transcript_exon_variant,,ENST00000488342,;GRB14,downstream_gene_variant,,ENST00000469573,;							HIGH	949/1623	R317*	GRB14_HUMAN			Transcript			.	ENSP00000263915		CCDS2222.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H093528	H093528N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	11	5	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	16			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
PTH1R	0	LGGM	GRCh37	3	46940165	46940165	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	19	4	.	.	ENST00000313049.5:c.652A>T	p.Thr218Ser	p.T218S	ENST00000313049		218	Acg/Tcg	0	1	1	UPI000005041F	0	NA	ENST00000313049		ENSG00000160801	9608		23	2.08		HGNC	p.T218S		PTH1R		SNV			1				ENST00000418619	protein_coding	getma.org/?cm=var&var=hg19,3,46940165,A,T&fts=all		PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF24,hmmpanther:PTHR12011,Pfam_domain:PF00002,Superfamily_domains:SSF81321		T/S		T	medium	855/2123		getma.org/?cm=msa&ty=f&p=PTH1R_HUMAN&rb=184&re=455&var=T218S	tolerated(0.08)	Q71UK6_HUMAN,E7EWE7_HUMAN			YES	PTH1R,missense_variant,p.Thr218Ser,ENST00000449590,NM_000316.2;PTH1R,missense_variant,p.Thr218Ser,ENST00000313049,;PTH1R,missense_variant,p.Thr218Ser,ENST00000418619,;PTH1R,missense_variant,p.Thr218Ser,ENST00000430002,NM_001184744.1;PTH1R,missense_variant,p.Thr218Ser,ENST00000427125,;PTH1R,upstream_gene_variant,,ENST00000422115,;PTH1R,non_coding_transcript_exon_variant,,ENST00000490109,;PTH1R,missense_variant,p.Thr218Ser,ENST00000428220,;							MODERATE	652/1782	T218S	PTH1R_HUMAN			Transcript		possibly_damaging(0.687)	.	ENSP00000321999		CCDS2747.1			1	
TRIM13	0	LGGM	GRCh37	13	50586765	50586765	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	41	4	.	.	ENST00000356017.4:c.698G>A	p.Arg233Gln	p.R233Q	ENST00000356017		233	cGg/cAg	0	1		UPI000000D8B1	0	NA	ENST00000378182		ENSG00000204977	9976		45	1.04		HGNC	p.R230Q	rs759678543	TRIM13		SNV							ENST00000378183	protein_coding	getma.org/?cm=var&var=hg19,13,50586765,G,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF252		R/Q		A	low	1427/7249	4.52E-05	getma.org/?cm=msa&ty=f&p=TRI13_HUMAN&rb=145&re=313&var=R230Q	tolerated(0.35)					TRIM13,missense_variant,p.Arg230Gln,ENST00000378182,NM_213590.1,NM_001007278.1,NM_052811.2,NM_005798.3;TRIM13,missense_variant,p.Arg230Gln,ENST00000420995,;TRIM13,missense_variant,p.Arg233Gln,ENST00000356017,;TRIM13,missense_variant,p.Arg230Gln,ENST00000457662,;TRIM13,missense_variant,p.Arg230Gln,ENST00000378183,;TRIM13,missense_variant,p.Arg233Gln,ENST00000298772,;KCNRG,upstream_gene_variant,,ENST00000360473,NM_199464.2;KCNRG,upstream_gene_variant,,ENST00000312942,NM_173605.1;TRIM13,downstream_gene_variant,,ENST00000442421,;TRIM13,intron_variant,,ENST00000478111,;TRIM13,intron_variant,,ENST00000474805,;							MODERATE	689/1224	R230Q	TRI13_HUMAN			Transcript		possibly_damaging(0.716)	.	ENSP00000367424	2.47E-05	CCDS9423.1			1	
ITPRIPL1	0	LGGM	GRCh37	2	96993400	96993400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	24	5	.	.	ENST00000361124.4:c.1055C>T	p.Pro352Leu	p.P352L	ENST00000361124	NM_178495.5	352	cCa/cTa	0	1		UPI00003B5C6E	0	NA	ENST00000439118		ENSG00000198885	29371		29	0		HGNC	p.P352L		ITPRIPL1		SNV							ENST00000361124	protein_coding	getma.org/?cm=var&var=hg19,2,96993400,C,T&fts=all		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF40		P/L		T	neutral	1282/1946		getma.org/?cm=msa&ty=f&p=IPIL1_HUMAN&rb=201&re=367&var=P344L	tolerated(0.22)	F5H1L8_HUMAN,C9JNT4_HUMAN				ITPRIPL1,missense_variant,p.Pro352Leu,ENST00000361124,NM_178495.5;ITPRIPL1,missense_variant,p.Pro336Leu,ENST00000536814,NM_001163523.1;ITPRIPL1,missense_variant,p.Pro344Leu,ENST00000439118,NM_001008949.2;ITPRIPL1,missense_variant,p.Pro336Leu,ENST00000542887,NM_001163524.1;ITPRIPL1,missense_variant,p.Pro376Leu,ENST00000420728,;ITPRIPL1,downstream_gene_variant,,ENST00000420176,;							MODERATE	1031/1668	P344L	IPIL1_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000389308		CCDS46360.1			1	
MTG2	0	LGGM	GRCh37	20	60774242	60774242	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	21	5	.	.	ENST00000370823.3:c.755C>T	p.Ala252Val	p.A252V	ENST00000370823	NM_015666.3	252	gCt/gTt	0	1	1	UPI000006EF41	0	getma.org/pdb.php?prot=GTPB5_HUMAN&from=226&to=346&var=A252V	ENST00000370823		ENSG00000101181	16239		26	4.535		HGNC	p.A24V		MTG2		SNV							ENST00000536470	protein_coding	getma.org/?cm=var&var=hg19,20,60774242,C,T&fts=all		PROSITE_profiles:PS51710,HAMAP:MF_01454,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF3,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR02729,TIGRFAM_domain:TIGR00231,Pfam_domain:PF01926,PIRSF_domain:PIRSF002401,Superfamily_domains:SSF52540,Prints_domain:PR00326		A/V		T	high	773/2929		getma.org/?cm=msa&ty=f&p=GTPB5_HUMAN&rb=226&re=346&var=A252V	deleterious(0)	Q5JXJ0_HUMAN,B4DR85_HUMAN			YES	MTG2,missense_variant,p.Ala252Val,ENST00000370823,NM_015666.3;MTG2,missense_variant,p.Ala24Val,ENST00000536470,;MTG2,intron_variant,,ENST00000436421,;MTG2,downstream_gene_variant,,ENST00000448254,;MTG2,non_coding_transcript_exon_variant,,ENST00000466099,;MTG2,non_coding_transcript_exon_variant,,ENST00000471962,;MTG2,non_coding_transcript_exon_variant,,ENST00000472005,;MTG2,downstream_gene_variant,,ENST00000461411,;MTG2,downstream_gene_variant,,ENST00000471352,;MTG2,upstream_gene_variant,,ENST00000488748,;MTG2,3_prime_UTR_variant,,ENST00000467101,;							MODERATE	755/1221	A252V	MTG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359859		CCDS13492.1			1	
ZNF573	0	LGGM	GRCh37	19	38260664	38260664	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	46	5	.	.	ENST00000590414.2:c.276G>T	p.Arg92Ser	p.R92S	ENST00000590414		92	agG/agT	0	1		UPI0000F534BA	0	NA	ENST00000536220		ENSG00000189144	26420		51	1.425		HGNC	p.R4S		ZNF573		SNV							ENST00000357309	protein_coding	getma.org/?cm=var&var=hg19,19,38260664,C,A&fts=all		hmmpanther:PTHR24377:SF159,hmmpanther:PTHR24377		R/S		A	low	536/2448		getma.org/?cm=msa&ty=f&p=ZN573_HUMAN&rb=8&re=80&var=R72S	tolerated(0.2)					ZNF573,missense_variant,p.Arg4Ser,ENST00000536220,NM_001172689.1,NM_001172691.1,NM_001172690.1;ZNF573,missense_variant,p.Arg92Ser,ENST00000590414,;ZNF573,missense_variant,p.Arg4Ser,ENST00000357309,NM_001172692.1;ZNF573,missense_variant,p.Arg90Ser,ENST00000378445,;ZNF573,5_prime_UTR_variant,,ENST00000339503,NM_152360.3;ZNF573,3_prime_UTR_variant,,ENST00000585724,;ZNF573,intron_variant,,ENST00000392138,;ZNF573,downstream_gene_variant,,ENST00000588218,;ZNF573,downstream_gene_variant,,ENST00000494605,;ZNF573,missense_variant,p.Arg107Ser,ENST00000589632,;ZNF573,missense_variant,p.Arg92Ser,ENST00000591516,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,3_prime_UTR_variant,,ENST00000489148,;							MODERATE	12/1734	R72S	ZN573_HUMAN			Transcript		benign(0.007)	.	ENSP00000440464		CCDS54260.1			1	
GABRA4	0	LGGM	GRCh37	4	46930332	46930332	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	47	5	.	.	ENST00000264318.3:c.1575C>T	p.Leu525=	p.L525=	ENST00000264318	NM_000809.3	525	ctC/ctT	0	1	1	UPI0000074200	0		ENST00000264318		ENSG00000109158	4078		52			HGNC	p.L525L		GABRA4		SNV							ENST00000264318	protein_coding			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		L		A		2558/11973							YES	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,;							LOW	1575/1665		GBRA4_HUMAN			Transcript			.	ENSP00000264318		CCDS3473.1			1	
MTG2	0	LGGM	GRCh37	20	60774241	60774241	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	20	5	.	.	ENST00000370823.3:c.754G>A	p.Ala252Thr	p.A252T	ENST00000370823	NM_015666.3	252	Gct/Act	0	1	1	UPI000006EF41	0	getma.org/pdb.php?prot=GTPB5_HUMAN&from=226&to=346&var=A252T	ENST00000370823		ENSG00000101181	16239		25	3.495		HGNC	p.A24T	COSM1209189	MTG2		SNV						1	ENST00000536470	protein_coding	getma.org/?cm=var&var=hg19,20,60774241,G,A&fts=all		PROSITE_profiles:PS51710,HAMAP:MF_01454,hmmpanther:PTHR11702,hmmpanther:PTHR11702:SF3,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR02729,TIGRFAM_domain:TIGR00231,Pfam_domain:PF01926,PIRSF_domain:PIRSF002401,Superfamily_domains:SSF52540,Prints_domain:PR00326		A/T		A	medium	772/2929		getma.org/?cm=msa&ty=f&p=GTPB5_HUMAN&rb=226&re=346&var=A252T	deleterious(0)	Q5JXJ0_HUMAN,B4DR85_HUMAN			YES	MTG2,missense_variant,p.Ala252Thr,ENST00000370823,NM_015666.3;MTG2,missense_variant,p.Ala24Thr,ENST00000536470,;MTG2,intron_variant,,ENST00000436421,;MTG2,downstream_gene_variant,,ENST00000448254,;MTG2,non_coding_transcript_exon_variant,,ENST00000466099,;MTG2,non_coding_transcript_exon_variant,,ENST00000471962,;MTG2,non_coding_transcript_exon_variant,,ENST00000472005,;MTG2,downstream_gene_variant,,ENST00000461411,;MTG2,downstream_gene_variant,,ENST00000471352,;MTG2,upstream_gene_variant,,ENST00000488748,;MTG2,3_prime_UTR_variant,,ENST00000467101,;					1		MODERATE	754/1221	A252T	MTG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359859		CCDS13492.1			1	
PRPF40A	0	LGGM	GRCh37	2	153519122	153519122	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	24	5	.	.	ENST00000410080.1:c.2317C>T	p.Leu773Phe	p.L773F	ENST00000410080	NM_017892.3	773	Ctt/Ttt	0	1	1	UPI00015743D9	0	NA	ENST00000410080		ENSG00000196504	16463		29	2.125		HGNC	p.L773F		PRPF40A		SNV							ENST00000410080	protein_coding	getma.org/?cm=var&var=hg19,2,153519122,G,A&fts=all		hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864,Gene3D:1uzcA00,Superfamily_domains:SSF81698		L/F		A	medium	2859/8048		getma.org/?cm=msa&ty=f&p=PR40A_HUMAN&rb=797&re=957&var=L800F	deleterious(0.01)	Q4ZG51_HUMAN			YES	PRPF40A,missense_variant,p.Leu773Phe,ENST00000410080,NM_017892.3;PRPF40A,upstream_gene_variant,,ENST00000471167,;PRPF40A,upstream_gene_variant,,ENST00000471701,;PRPF40A,downstream_gene_variant,,ENST00000472760,;							MODERATE	2317/2793	L800F	PR40A_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000386458		CCDS46430.1			1	
AC079354.1	0	LGGM	GRCh37	2	202939759	202939759	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	41	5	.	.	ENST00000541917.1:c.230G>T	p.Gly77Val	p.G77V	ENST00000541917		77	gGt/gTt	0	1	1	UPI00020659C3	0	NA	ENST00000541917		ENSG00000182329			46	1.905		Clone_based_vega_gene	p.G77V		AC079354.1		SNV							ENST00000541917	protein_coding	getma.org/?cm=var&var=hg19,2,202939759,G,T&fts=all		hmmpanther:PTHR21937		G/V		T	medium	603/2889		getma.org/?cm=msa&ty=f&p=E7EP55_HUMAN&rb=1&re=545&var=G77V	deleterious(0)	F5H626_HUMAN			YES	AC079354.1,missense_variant,p.Gly77Val,ENST00000295844,;AC079354.1,missense_variant,p.Gly77Val,ENST00000541917,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000409515,;AC079354.1,non_coding_transcript_exon_variant,,ENST00000459709,;							MODERATE	230/2010	G77V				Transcript		possibly_damaging(0.892)	.	ENSP00000437957					1	
CTNNB1	0	LGGM	GRCh37	3	41266101	41266101	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	40	7	.	.	ENST00000349496.5:c.98C>G	p.Ser33Cys	p.S33C	ENST00000349496	NM_001904.3	33	tCt/tGt	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33C	ENST00000349496	pathogenic	ENSG00000168036	2514		47	2.46		HGNC	p.S33C	rs121913400,COSM5677	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266101,C,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/C		G	medium	378/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33C	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Cys,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Cys,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Cys,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Cys,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Cys,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	98/2346	S33C	CTNB1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000344456		CCDS2694.1			1	
KIAA1211L	0	LGGM	GRCh37	2	99413884	99413884	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	48	6	.	.	ENST00000397899.2:c.2533G>T	p.Glu845Ter	p.E845*	ENST00000397899	NM_207362.2	845	Gaa/Taa	0	1	1	UPI0000E59245	0	NA	ENST00000397899		ENSG00000196872	33454		54	0		HGNC	p.E845X		KIAA1211L		SNV							ENST00000397899	protein_coding	getma.org/?cm=var&var=hg19,2,99413884,C,A&fts=all		hmmpanther:PTHR22118:SF5,hmmpanther:PTHR22118		E/*		A	NA	2865/3907		NA					YES	KIAA1211L,stop_gained,p.Glu845Ter,ENST00000397899,NM_207362.2;							HIGH	2533/2889	E845*	K121L_HUMAN			Transcript			.	ENSP00000380996		CCDS42720.1			1	
OR8J3	0	LGGM	GRCh37	11	55904291	55904291	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	39	6	.	.	ENST00000301529.1:c.904A>T	p.Lys302Ter	p.K302*	ENST00000301529	NM_001004064.1	302	Aag/Tag	0	1	1	UPI0000061E99	0	NA	ENST00000301529		ENSG00000167822	15312		45	0		HGNC	p.K302X		OR8J3		SNV							ENST00000301529	protein_coding	getma.org/?cm=var&var=hg19,11,55904291,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Superfamily_domains:SSF81321		K/*		A	NA	904/948		NA					YES	OR8J3,stop_gained,p.Lys302Ter,ENST00000301529,NM_001004064.1;OR5BN1P,upstream_gene_variant,,ENST00000532955,;							HIGH	904/948	K302*	OR8J3_HUMAN			Transcript			.	ENSP00000301529		CCDS31520.1			1	
GSTK1	0	LGGM	GRCh37	7	142960612	142960612	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	15	7	.	.	ENST00000479303.1:c.6G>A	p.Gly2=	p.G2=	ENST00000479303	NM_001143679.1	2	ggG/ggA	0	1		UPI000013C81A	0		ENST00000358406		ENSG00000197448	16906		22			HGNC	p.G2G		GSTK1		SNV							ENST00000443571	protein_coding			PIRSF_domain:PIRSF006386,hmmpanther:PTHR13887		G		A		77/1044				Q6FII1_HUMAN				GSTK1,synonymous_variant,p.=,ENST00000479303,NM_001143679.1;GSTK1,synonymous_variant,p.=,ENST00000358406,NM_015917.2;GSTK1,synonymous_variant,p.=,ENST00000409500,NM_001143680.1;GSTK1,synonymous_variant,p.=,ENST00000443571,NM_001143681.1;GSTK1,intron_variant,,ENST00000436038,;AC073342.12,intron_variant,,ENST00000427392,;GSTK1,non_coding_transcript_exon_variant,,ENST00000494735,;GSTK1,synonymous_variant,p.=,ENST00000442394,;GSTK1,non_coding_transcript_exon_variant,,ENST00000473649,;GSTK1,non_coding_transcript_exon_variant,,ENST00000489654,;							LOW	6/681		GSTK1_HUMAN			Transcript			.	ENSP00000351181		CCDS5877.1			1	
FGF12	0	LGGM	GRCh37	3	192053188	192053188	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	31	7	.	.	ENST00000454309.2:c.376T>C	p.Tyr126His	p.Y126H	ENST00000454309	NM_021032.4	126	Tat/Cat	0	1	1	UPI0000003FDD	0	getma.org/pdb.php?prot=FGF12_HUMAN&from=73&to=199&var=Y126H	ENST00000454309		ENSG00000114279	3668		38	2.97		HGNC	p.Y126H		FGF12		SNV							ENST00000454309	protein_coding	getma.org/?cm=var&var=hg19,3,192053188,A,G&fts=all		Gene3D:2.80.10.50,Pfam_domain:PF00167,Prints_domain:PR00262,Prints_domain:PR00263,hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF17,SMART_domains:SM00442,Superfamily_domains:SSF50353		Y/H		G	medium	1202/3058		getma.org/?cm=msa&ty=f&p=FGF12_HUMAN&rb=73&re=199&var=Y126H	deleterious(0)	C9JUK8_HUMAN			YES	FGF12,missense_variant,p.Tyr64His,ENST00000445105,NM_004113.5;FGF12,missense_variant,p.Tyr126His,ENST00000454309,NM_021032.4;FGF12,missense_variant,p.Tyr64His,ENST00000264730,;FGF12,missense_variant,p.Tyr64His,ENST00000450716,;FGF12,missense_variant,p.Tyr64His,ENST00000418610,;FGF12,missense_variant,p.Tyr27His,ENST00000430714,;FGF12,missense_variant,p.Tyr40His,ENST00000448795,;							MODERATE	376/732	Y126H	FGF12_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000413496		CCDS3301.1			1	
KDM6B	0	LGGM	GRCh37	17	7750698	7750698	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	38	8	.	.	ENST00000254846.5:c.1185C>T	p.Gly395=	p.G395=	ENST00000254846	NM_001080424.1	395	ggC/ggT	0	1		UPI00001C1FC7	0		ENST00000448097		ENSG00000132510	29012		46			HGNC	p.G395G		KDM6B		SNV							ENST00000448097	protein_coding			hmmpanther:PTHR14017,hmmpanther:PTHR14017:SF5,Low_complexity_(Seg):seg		G		T		1516/5422								KDM6B,synonymous_variant,p.=,ENST00000254846,NM_001080424.1;KDM6B,synonymous_variant,p.=,ENST00000448097,;KDM6B,synonymous_variant,p.=,ENST00000570632,;KDM6B,downstream_gene_variant,,ENST00000571047,;KDM6B,downstream_gene_variant,,ENST00000575521,;							LOW	1185/4932		KDM6B_HUMAN			Transcript			.	ENSP00000412513					1	
CHD6	0	LGGM	GRCh37	20	40161836	40161836	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	104	8	.	.	ENST00000373233.3:c.407C>T	p.Pro136Leu	p.P136L	ENST00000373233	NM_032221.4	136	cCg/cTg	0	1	1	UPI0000168656	0	NA	ENST00000373233		ENSG00000124177	19057		112	1.04		HGNC	p.P136L	rs762002097	CHD6		SNV							ENST00000440647	protein_coding	getma.org/?cm=var&var=hg19,20,40161836,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF589		P/L		A	low	585/10818	1.50E-05	getma.org/?cm=msa&ty=f&p=CHD6_HUMAN&rb=3&re=221&var=P136L	tolerated(0.06)				YES	CHD6,missense_variant,p.Pro136Leu,ENST00000373233,NM_032221.4;CHD6,missense_variant,p.Pro136Leu,ENST00000309279,;CHD6,missense_variant,p.Pro171Leu,ENST00000373222,;CHD6,missense_variant,p.Pro136Leu,ENST00000440647,;CHD6,non_coding_transcript_exon_variant,,ENST00000470470,;CHD6,non_coding_transcript_exon_variant,,ENST00000482596,;							MODERATE	407/8148	P136L	CHD6_HUMAN			Transcript		benign(0.005)	.	ENSP00000362330	8.24E-06	CCDS13317.1			1	
PDIA5	0	LGGM	GRCh37	3	122869133	122869133	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	45	9	.	.	ENST00000316218.7:c.1195G>A	p.Val399Met	p.V399M	ENST00000316218	NM_006810.3	399	Gtg/Atg	0	1	1	UPI000013148A	0	getma.org/pdb.php?prot=PDIA5_HUMAN&from=398&to=504&var=V399M	ENST00000316218		ENSG00000065485	24811		54	3.13		HGNC	p.V399M		PDIA5		SNV							ENST00000316218	protein_coding	getma.org/?cm=var&var=hg19,3,122869133,G,A&fts=all		Superfamily_domains:SSF52833,Pfam_domain:PF00085,Gene3D:3.40.30.10,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF85,PROSITE_profiles:PS51352		V/M		A	medium	1290/1799		getma.org/?cm=msa&ty=f&p=PDIA5_HUMAN&rb=398&re=504&var=V399M	deleterious(0)	C9JY10_HUMAN			YES	PDIA5,missense_variant,p.Val399Met,ENST00000316218,NM_006810.3;PDIA5,non_coding_transcript_exon_variant,,ENST00000467157,;PDIA5,non_coding_transcript_exon_variant,,ENST00000485208,;PDIA5,downstream_gene_variant,,ENST00000472319,;PDIA5,3_prime_UTR_variant,,ENST00000489923,;PDIA5,upstream_gene_variant,,ENST00000469649,;							MODERATE	1195/1560	V399M	PDIA5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323313		CCDS3020.1			1	
MYO1H	0	LGGM	GRCh37	12	109872888	109872888	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	49	9	.	.	ENST00000310903.5:c.2062G>C	p.Asp688His	p.D688H	ENST00000310903		688	Gat/Cat	0	1	1	UPI0001AFF951	0	NA	ENST00000310903		ENSG00000174527	13879		58	2.765		HGNC	p.D688H		MYO1H		SNV							ENST00000310903	protein_coding	getma.org/?cm=var&var=hg19,12,109872888,G,C&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,SMART_domains:SM00242,Superfamily_domains:SSF52540		D/H		C	medium	2168/4364		getma.org/?cm=msa&ty=f&p=MYO1H_HUMAN&rb=689&re=842&var=D698H	deleterious(0)	S4R387_HUMAN,F5H3C6_HUMAN			YES	MYO1H,missense_variant,p.Asp688His,ENST00000310903,;MYO1H,missense_variant,p.Asp698His,ENST00000431443,NM_001101421.3;MYO1H,upstream_gene_variant,,ENST00000542268,;							MODERATE	2062/3069	D698H				Transcript		probably_damaging(1)	.	ENSP00000439182		CCDS53826.1			1	
ROS1	0	LGGM	GRCh37	6	117674274	117674274	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	25	9	.	.	ENST00000368508.3:c.4200A>T	p.Thr1400=	p.T1400=	ENST00000368508	NM_002944.2	1400	acA/acT	0	1	1	UPI000013D467	0		ENST00000368508		ENSG00000047936	10261		34			HGNC	p.T1400T		ROS1		SNV							ENST00000368508	protein_coding			Gene3D:2.120.10.30,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF304,Superfamily_domains:SSF63825		T		A		4399/7435							YES	ROS1,synonymous_variant,p.=,ENST00000368508,NM_002944.2;ROS1,synonymous_variant,p.=,ENST00000368507,;GOPC,intron_variant,,ENST00000467125,;							LOW	4200/7044		ROS1_HUMAN			Transcript			.	ENSP00000357494		CCDS5116.1			1	
MTX3	0	LGGM	GRCh37	5	79284986	79284986	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	19	10	.	.	ENST00000512560.1:c.127C>G	p.Leu43Val	p.L43V	ENST00000512560	NM_001167741.1	43	Ctc/Gtc	0	1		UPI000022C843	0	NA	ENST00000512528		ENSG00000177034	24812		29	2.005		HGNC	p.L104V		MTX3		SNV							ENST00000509852	protein_coding	getma.org/?cm=var&var=hg19,5,79284986,G,C&fts=all		Pfam_domain:PF11801,PIRSF_domain:PIRSF038150,hmmpanther:PTHR12289,hmmpanther:PTHR12289:SF30		L/V		C	medium	331/1280		getma.org/?cm=msa&ty=f&p=MTX3_HUMAN&rb=94&re=168&var=L104V	tolerated(0.07)					MTX3,missense_variant,p.Leu43Val,ENST00000512560,NM_001167741.1;MTX3,missense_variant,p.Leu104Val,ENST00000509852,NM_001010891.4;MTX3,missense_variant,p.Leu104Val,ENST00000512528,;THBS4,upstream_gene_variant,,ENST00000513310,;THBS4,upstream_gene_variant,,ENST00000510218,;							MODERATE	310/939	L104V	MTX3_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000424798					1	
OLA1	0	LGGM	GRCh37	2	174987979	174987979	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	17	10	.	.	ENST00000284719.3:c.657T>G	p.Phe219Leu	p.F219L	ENST00000284719	NM_013341.3	219	ttT/ttG	0	1	1	UPI00001328C1	0	getma.org/pdb.php?prot=OLA1_HUMAN&from=24&to=231&var=F219L	ENST00000284719		ENSG00000138430	28833		27	-0.56		HGNC	p.F239L		OLA1		SNV							ENST00000409546	protein_coding	getma.org/?cm=var&var=hg19,2,174987979,A,C&fts=all		PROSITE_profiles:PS51710,HAMAP:MF_00944,hmmpanther:PTHR23305,TIGRFAM_domain:TIGR00092,Gene3D:1.10.150.300,PIRSF_domain:PIRSF006641,Superfamily_domains:SSF52540		F/L		C	neutral	904/4417		getma.org/?cm=msa&ty=f&p=OLA1_HUMAN&rb=24&re=231&var=F219L	tolerated(1)	Q53SW9_HUMAN,Q53SQ6_HUMAN,C9JTK6_HUMAN,C9JCJ9_HUMAN			YES	OLA1,missense_variant,p.Phe219Leu,ENST00000284719,NM_013341.3;OLA1,missense_variant,p.Phe239Leu,ENST00000409546,;OLA1,missense_variant,p.Phe61Leu,ENST00000344357,NM_001011708.1;OLA1,missense_variant,p.Phe219Leu,ENST00000428402,;OLA1,missense_variant,p.Phe61Leu,ENST00000429575,;OLA1,non_coding_transcript_exon_variant,,ENST00000392560,;OLA1,non_coding_transcript_exon_variant,,ENST00000462000,;							MODERATE	657/1191	F219L	OLA1_HUMAN			Transcript		benign(0.193)	.	ENSP00000284719		CCDS2255.1			1	
AGL	0	LGGM	GRCh37	1	100336329	100336329	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	32	10	.	.	ENST00000294724.4:c.862A>G	p.Ile288Val	p.I288V	ENST00000294724	NM_000028.2	288	Att/Gtt	0	1	1	UPI00001694CB	0	NA	ENST00000294724		ENSG00000162688	321		42	0.225		HGNC	p.I271V		AGL		SNV			1				ENST00000361522	protein_coding	getma.org/?cm=var&var=hg19,1,100336329,A,G&fts=all		hmmpanther:PTHR10569,Pfam_domain:PF14701,TIGRFAM_domain:TIGR01531		I/V		G	neutral	1340/7446		getma.org/?cm=msa&ty=f&p=GDE_HUMAN&rb=201&re=400&var=I288V	tolerated(0.09)	G1UI17_HUMAN			YES	AGL,missense_variant,p.Ile288Val,ENST00000294724,NM_000028.2;AGL,missense_variant,p.Ile288Val,ENST00000361915,NM_000642.2;AGL,missense_variant,p.Ile272Val,ENST00000361302,NM_000646.2;AGL,missense_variant,p.Ile271Val,ENST00000361522,NM_000645.2;AGL,missense_variant,p.Ile288Val,ENST00000370163,NM_000643.2;AGL,missense_variant,p.Ile288Val,ENST00000370165,NM_000644.2;AGL,missense_variant,p.Ile272Val,ENST00000370161,;AGL,upstream_gene_variant,,ENST00000477753,;							MODERATE	862/4599	I288V	GDE_HUMAN			Transcript		benign(0.002)	.	ENSP00000294724		CCDS759.1			1	
GABRA6	0	LGGM	GRCh37	5	161113342	161113342	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	60	10	.	.	ENST00000274545.5:c.145C>T	p.Pro49Ser	p.P49S	ENST00000274545		49	Ccg/Tcg	0	1	1	UPI000013DA14	0	getma.org/pdb.php?prot=GBRA6_HUMAN&from=32&to=240&var=P49S	ENST00000274545		ENSG00000145863	4080		70	2.99		HGNC	p.P49S		GABRA6		SNV							ENST00000274545	protein_coding	getma.org/?cm=var&var=hg19,5,161113342,C,T&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Gene3D:2.70.170.10,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Superfamily_domains:0038932		P/S		T	medium	578/2128		getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=32&re=240&var=P49S	deleterious(0)	Q71UU0_HUMAN			YES	GABRA6,missense_variant,p.Pro49Ser,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Pro49Ser,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,;							MODERATE	145/1362	P49S	GBRA6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274545		CCDS4356.1			1	
HS1BP3	0	LGGM	GRCh37	2	20845184	20845184	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	31	10	.	.	ENST00000304031.3:c.114C>T	p.His38=	p.H38=	ENST00000304031	NM_022460.3	38	caC/caT	0	1	1	UPI000013E92A	0		ENST00000304031		ENSG00000118960	24979	8.64E-05	41			HGNC	p.H38H	rs374149011	HS1BP3		SNV	A:0.0002			0.000192			ENST00000304031	protein_coding			Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR14431,hmmpanther:PTHR14431:SF0,SMART_domains:SM00312,Superfamily_domains:SSF64268		H	A:0	A		140/2370	1.50E-05						YES	HS1BP3,synonymous_variant,p.=,ENST00000402541,;HS1BP3,synonymous_variant,p.=,ENST00000304031,NM_022460.3;HS1BP3,synonymous_variant,p.=,ENST00000406618,;HS1BP3,intron_variant,,ENST00000446825,;							LOW	114/1179		H1BP3_HUMAN			Transcript			.	ENSP00000305193	3.29E-05	CCDS1700.1			1	
CDK12	0	LGGM	GRCh37	17	37618725	37618725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	41	10	.	.	ENST00000447079.4:c.401A>G	p.Gln134Arg	p.Q134R	ENST00000447079	NM_015083.1	134	cAa/cGa	0	1	1	UPI000013E688	0	NA	ENST00000447079		ENSG00000167258	24224		51	0.14		HGNC	p.Q134R		CDK12		SNV							ENST00000430627	protein_coding	getma.org/?cm=var&var=hg19,17,37618725,A,G&fts=all		Low_complexity_(Seg):seg		Q/R		G	neutral	434/8336		getma.org/?cm=msa&ty=f&p=CDK12_HUMAN&rb=66&re=341&var=Q134R					YES	CDK12,missense_variant,p.Gln134Arg,ENST00000447079,NM_015083.1,NM_016507.2;CDK12,missense_variant,p.Gln134Arg,ENST00000430627,;CDK12,missense_variant,p.Gln134Arg,ENST00000584632,;							MODERATE	401/4473	Q134R	CDK12_HUMAN			Transcript		unknown(0)	.	ENSP00000398880		CCDS11337.1			1	
KIF1B	0	LGGM	GRCh37	1	10355777	10355777	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	22	10	.	.	ENST00000263934.6:c.1592A>G	p.Lys531Arg	p.K531R	ENST00000263934	NM_015074.3	531	aAa/aGa	0	1		UPI000003424C	0	getma.org/pdb.php?prot=KIF1B_HUMAN&from=556&to=627&var=K577R	ENST00000377086		ENSG00000054523	16636		32	0.66		HGNC	p.K531R		KIF1B		SNV			1				ENST00000263934	protein_coding	getma.org/?cm=var&var=hg19,1,10355777,A,G&fts=all		Gene3D:2.60.200.20,Pfam_domain:PF00498,PROSITE_profiles:PS50006,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328,SMART_domains:SM00240,Superfamily_domains:SSF49879		K/R		G	neutral	1932/10669		getma.org/?cm=msa&ty=f&p=KIF1B_HUMAN&rb=556&re=627&var=K577R	tolerated(0.25)	B4DMF3_HUMAN				KIF1B,missense_variant,p.Lys577Arg,ENST00000377086,;KIF1B,missense_variant,p.Lys577Arg,ENST00000377081,;KIF1B,missense_variant,p.Lys531Arg,ENST00000377093,NM_183416.3;KIF1B,missense_variant,p.Lys531Arg,ENST00000263934,NM_015074.3;KIF1B,missense_variant,p.Lys531Arg,ENST00000377083,;RNU6-37P,upstream_gene_variant,,ENST00000362692,;KIF1B,downstream_gene_variant,,ENST00000497835,;							MODERATE	1730/5451	K577R	KIF1B_HUMAN			Transcript		benign(0.05)	.	ENSP00000366290					1	
CDH23	0	LGGM	GRCh37	10	73453980	73453980	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	39	10	.	.	ENST00000224721.6:c.2268G>A	p.Gly756=	p.G756=	ENST00000224721	NM_022124.5	756	ggG/ggA	0	1	1	UPI0002B831D5	0		ENST00000224721		ENSG00000107736	13733		49			HGNC	p.G754G		CDH23		SNV			1				ENST00000299366	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		G		A		2273/10085								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;							LOW	2268/10080					Transcript			.	ENSP00000224721					1	
BMPR1B	0	LGGM	GRCh37	4	96051110	96051110	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	35	11	.	.	ENST00000440890.2:c.773T>C	p.Val258Ala	p.V258A	ENST00000440890		258	gTa/gCa	0	1		UPI000000DC59	0	getma.org/pdb.php?prot=BMR1B_HUMAN&from=204&to=491&var=V228A	ENST00000264568		ENSG00000138696	1077		46	3		HGNC	p.V228A		BMPR1B		SNV			1				ENST00000264568	protein_coding	getma.org/?cm=var&var=hg19,4,96051110,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF62,hmmpanther:PTHR23255,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/A		C	medium	837/1807		getma.org/?cm=msa&ty=f&p=BMR1B_HUMAN&rb=204&re=491&var=V228A	deleterious(0)	D6RGW8_HUMAN				BMPR1B,missense_variant,p.Val228Ala,ENST00000515059,NM_001203.2;BMPR1B,missense_variant,p.Val228Ala,ENST00000394931,;BMPR1B,missense_variant,p.Val228Ala,ENST00000264568,NM_001256794.1;BMPR1B,missense_variant,p.Val258Ala,ENST00000440890,;BMPR1B,missense_variant,p.Val228Ala,ENST00000509540,NM_001256793.1;BMPR1B,missense_variant,p.Val228Ala,ENST00000512312,NM_001256792.1;							MODERATE	683/1509	V228A	BMR1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264568		CCDS3642.1			1	
SPECC1	0	LGGM	GRCh37	17	20156826	20156826	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	13	11	.	.	ENST00000261503.5:c.2607G>T	p.Ser869=	p.S869=	ENST00000261503	NM_001033553.2	869	tcG/tcT	0	1	1	UPI000020187D	0		ENST00000261503		ENSG00000128487	30615		24			HGNC	p.S869S		SPECC1		SNV							ENST00000395527	protein_coding			hmmpanther:PTHR23167,hmmpanther:PTHR23167:SF3		S		T		2658/3948				J3QSD6_HUMAN,J3QS22_HUMAN,J3QRQ9_HUMAN,J3QQM0_HUMAN,J3KTI9_HUMAN,J3KS18_HUMAN,J3KRD8_HUMAN,J3KRB9_HUMAN,F5H2Z1_HUMAN,B4DQ24_HUMAN			YES	SPECC1,synonymous_variant,p.=,ENST00000395530,NM_001033555.2;SPECC1,synonymous_variant,p.=,ENST00000261503,NM_001033553.2;SPECC1,synonymous_variant,p.=,ENST00000395527,NM_001243439.1;SPECC1,synonymous_variant,p.=,ENST00000581399,;SPECC1,synonymous_variant,p.=,ENST00000536879,;AC004702.2,intron_variant,,ENST00000580225,;							LOW	2607/3207		CYTSB_HUMAN			Transcript			.	ENSP00000261503		CCDS32590.1			1	
HYCC2	0	LGGM	GRCh37	2	201846293	201846293	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	17	11	.	.	ENST00000418596.3:c.1293G>T	p.Leu431=	p.L431=	ENST00000418596	NM_173822.3	431	ctG/ctT	0	1	1	UPI0000074347	0		ENST00000418596		ENSG00000155744	28593		28			HGNC	p.L431L		FAM126B		SNV							ENST00000418596	protein_coding			hmmpanther:PTHR31220,hmmpanther:PTHR31220:SF3		L		A		1481/9333				C9JTA1_HUMAN,C9JNS4_HUMAN,B3KW57_HUMAN			YES	FAM126B,synonymous_variant,p.=,ENST00000418596,NM_173822.3;AC005037.3,intron_variant,,ENST00000413848,;AC005037.3,downstream_gene_variant,,ENST00000332935,;FAM126B,3_prime_UTR_variant,,ENST00000286181,;							LOW	1293/1593		F126B_HUMAN			Transcript			.	ENSP00000393667		CCDS2335.1			1	
CCDC80	0	LGGM	GRCh37	3	112348983	112348983	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	23	11	.	.	ENST00000206423.3:c.2012T>A	p.Met671Lys	p.M671K	ENST00000206423	NM_199512.1	671	aTg/aAg	0	1	1	UPI000004EE7F	0	NA	ENST00000206423		ENSG00000091986	30649		34	2.14		HGNC	p.M671K		CCDC80		SNV							ENST00000439685	protein_coding	getma.org/?cm=var&var=hg19,3,112348983,A,T&fts=all		Pfam_domain:PF13778,hmmpanther:PTHR19325		M/K		T	medium	2966/4664		getma.org/?cm=msa&ty=f&p=CCD80_HUMAN&rb=614&re=750&var=M671K	deleterious(0)				YES	CCDC80,missense_variant,p.Met671Lys,ENST00000206423,NM_199512.1,NM_199511.1;CCDC80,missense_variant,p.Met671Lys,ENST00000439685,;CCDC80,missense_variant,p.Met69Lys,ENST00000461431,;							MODERATE	2012/2853	M671K	CCD80_HUMAN			Transcript		possibly_damaging(0.734)	.	ENSP00000206423		CCDS2968.1			1	
DST	0	LGGM	GRCh37	6	56342230	56342230	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	82	12	.	.	ENST00000244364.6:c.13719G>T	p.Met4573Ile	p.M4573I	ENST00000244364	NM_015548.4	4573	atG/atT	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		94	2.35		HGNC	p.M4573I		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56342230,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		M/I		A	medium	13927/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=6922&re=7028&var=M6985I		Q86T18_HUMAN			YES	DST,missense_variant,p.Met7165Ile,ENST00000370754,;DST,missense_variant,p.Met6987Ile,ENST00000370769,;DST,missense_variant,p.Met6661Ile,ENST00000446842,;DST,missense_variant,p.Met6876Ile,ENST00000361203,;DST,missense_variant,p.Met4790Ile,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Met4899Ile,ENST00000421834,;DST,missense_variant,p.Met4573Ile,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,;							MODERATE	13719/15516	M6985I	DYST_HUMAN			Transcript		possibly_damaging(0.5)	.	ENSP00000244364		CCDS47443.1			1	
FAM222B	0	LGGM	GRCh37	17	27086671	27086671	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	15	12	.	.	ENST00000341217.5:c.306T>A	p.Leu102=	p.L102=	ENST00000341217	NM_001288633.1	102	ctT/ctA	0	1		UPI000006F01C	0		ENST00000452648		ENSG00000173065	25563		27			HGNC	p.L102L		FAM222B		SNV							ENST00000341217	protein_coding			hmmpanther:PTHR16070,hmmpanther:PTHR16070:SF1,Pfam_domain:PF15258		L		T		573/2836				J3QRR9_HUMAN,J3QR32_HUMAN,J3QLP2_HUMAN,J3QKY8_HUMAN,B4DRX9_HUMAN				FAM222B,synonymous_variant,p.=,ENST00000341217,NM_001288633.1,NM_018182.3,NM_001288634.1,NM_001288640.1,NM_001288637.1,NM_001288635.1,NM_001288638.1,NM_001288636.1,NM_001288632.1,NM_001288639.1,NM_001288631.1;FAM222B,synonymous_variant,p.=,ENST00000581407,NM_001077498.1;FAM222B,synonymous_variant,p.=,ENST00000452648,;FAM222B,synonymous_variant,p.=,ENST00000583307,;FAM222B,synonymous_variant,p.=,ENST00000577513,;FAM222B,synonymous_variant,p.=,ENST00000577376,;FAM222B,synonymous_variant,p.=,ENST00000581229,;FAM222B,3_prime_UTR_variant,,ENST00000582266,;FAM222B,3_prime_UTR_variant,,ENST00000583953,;FAM222B,3_prime_UTR_variant,,ENST00000582059,;FAM222B,3_prime_UTR_variant,,ENST00000583522,;FAM222B,3_prime_UTR_variant,,ENST00000581381,;FAM222B,3_prime_UTR_variant,,ENST00000577682,;FAM222B,downstream_gene_variant,,ENST00000584059,;FAM222B,downstream_gene_variant,,ENST00000579381,;							LOW	306/1689		F222B_HUMAN			Transcript			.	ENSP00000413645		CCDS45637.1			1	
MED13	0	LGGM	GRCh37	17	60038999	60038999	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	78	12	.	.	ENST00000397786.2:c.5206A>G	p.Thr1736Ala	p.T1736A	ENST00000397786	NM_005121.2	1736	Act/Gct	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474		90	2.05		HGNC	p.T1736A		MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60038999,T,C&fts=all		Pfam_domain:PF06333,hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		T/A		C	medium	5283/10465		getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=1640&re=2165&var=T1736A	deleterious(0)				YES	MED13,missense_variant,p.Thr1736Ala,ENST00000397786,NM_005121.2;							MODERATE	5206/6525	T1736A	MED13_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000380888		CCDS42366.1			1	
NLRP1	0	LGGM	GRCh37	17	5442759	5442759	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	11	12	.	.	ENST00000572272.1:c.2846C>T	p.Pro949Leu	p.P949L	ENST00000572272		949	cCt/cTt	0	1	1	UPI0000038309	0	NA	ENST00000572272		ENSG00000091592	14374		23	1.495		HGNC	p.P949L	COSM3519786,COSM3519785,COSM3519784	NLRP1		SNV			1			1,1,1	ENST00000577119	protein_coding	getma.org/?cm=var&var=hg19,17,5442759,G,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF13,Superfamily_domains:SSF52047		P/L		A	low	2846/4422		getma.org/?cm=msa&ty=f&p=NALP1_HUMAN&rb=945&re=986&var=P949L	deleterious(0)	I3L2G5_HUMAN,I3L0S2_HUMAN			YES	NLRP1,missense_variant,p.Pro949Leu,ENST00000345221,NM_033004.3,NM_014922.4,NM_033007.3;NLRP1,missense_variant,p.Pro949Leu,ENST00000262467,NM_001033053.2;NLRP1,missense_variant,p.Pro949Leu,ENST00000269280,;NLRP1,missense_variant,p.Pro949Leu,ENST00000572272,;NLRP1,missense_variant,p.Pro949Leu,ENST00000354411,NM_033006.3;NLRP1,missense_variant,p.Pro949Leu,ENST00000577119,;NLRP1,non_coding_transcript_exon_variant,,ENST00000571307,;NLRP1,missense_variant,p.Pro949Leu,ENST00000571451,;NLRP1,missense_variant,p.Pro949Leu,ENST00000544378,;					1,1,1		MODERATE	2846/4422	P949L	NALP1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000460475		CCDS42246.1			1	
FREM2	0	LGGM	GRCh37	13	39452383	39452383	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	31	12	.	.	ENST00000280481.7:c.8784C>A	p.Pro2928=	p.P2928=	ENST00000280481	NM_207361.4	2928	ccC/ccA	0	1	1	UPI00005520B9	0		ENST00000280481		ENSG00000150893	25396		43			HGNC	p.P2928P	COSM3468831	FREM2		SNV			1			1	ENST00000280481	protein_coding			hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19		P		A		9000/14876							YES	FREM2,synonymous_variant,p.=,ENST00000280481,NM_207361.4;					1		LOW	8784/9510		FREM2_HUMAN			Transcript			.	ENSP00000280481		CCDS31960.1			1	
PLD1	0	LGGM	GRCh37	3	171321086	171321086	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	20	12	.	.	ENST00000351298.4:c.3007C>T	p.Arg1003Trp	p.R1003W	ENST00000351298	NM_002662.4	1003	Cgg/Tgg	0	1	1	UPI0000131BDC	0	NA	ENST00000351298		ENSG00000075651	9067		32	3.27		HGNC	p.R1003W	rs746839761	PLD1	6.23E-05	SNV							ENST00000351298	protein_coding	getma.org/?cm=var&var=hg19,3,171321086,G,A&fts=all		hmmpanther:PTHR18896:SF57,hmmpanther:PTHR18896,PIRSF_domain:PIRSF009376		R/W		A	medium	3134/5604		getma.org/?cm=msa&ty=f&p=PLD1_HUMAN&rb=946&re=1074&var=R1003W	deleterious(0)	C9IY79_HUMAN			YES	PLD1,missense_variant,p.Arg965Trp,ENST00000356327,NM_001130081.2;PLD1,missense_variant,p.Arg1003Trp,ENST00000351298,NM_002662.4;PLD1,3_prime_UTR_variant,,ENST00000342215,;PLD1,upstream_gene_variant,,ENST00000463281,;							MODERATE	3007/3225	R1003W	PLD1_HUMAN	0.000155		Transcript		probably_damaging(0.991)	.	ENSP00000342793	1.65E-05	CCDS3216.1			1	
KRTAP3-3	0	LGGM	GRCh37	17	39150267	39150267	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	31	13	.	.	ENST00000391586.1:c.83G>C	p.Cys28Ser	p.C28S	ENST00000391586	NM_033185.2	28	tGt/tCt	0	1	1	UPI00000706E5	0		ENST00000391586		ENSG00000212899	18890		44			HGNC	p.C28S		KRTAP3-3		SNV							ENST00000391586	protein_coding			hmmpanther:PTHR23260,Pfam_domain:PF04579		C/S		G		119/700			deleterious_low_confidence(0)				YES	KRTAP3-3,missense_variant,p.Cys28Ser,ENST00000391586,NM_033185.2;							MODERATE	83/297		KRA33_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000375428		CCDS32643.1			1	
PCSK5	0	LGGM	GRCh37	9	78803497	78803497	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	23	14	.	.	ENST00000545128.1:c.2286G>T	p.Leu762=	p.L762=	ENST00000545128	NM_001190482.1	762	ctG/ctT	0	1	1	UPI0001DAD817	0		ENST00000545128		ENSG00000099139	8747		37			HGNC	p.L762L		PCSK5		SNV							ENST00000376752	protein_coding			Gene3D:2.10.220.10,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00181,SMART_domains:SM00261,Superfamily_domains:SSF57184		L		T		2824/9538				I0EZ71_HUMAN			YES	PCSK5,synonymous_variant,p.=,ENST00000545128,NM_001190482.1;PCSK5,synonymous_variant,p.=,ENST00000376752,NM_006200.3;PCSK5,synonymous_variant,p.=,ENST00000424854,;PCSK5,upstream_gene_variant,,ENST00000455778,;							LOW	2286/5583		PCSK5_HUMAN			Transcript			.	ENSP00000446280		CCDS55320.1			1	
PREX2	0	LGGM	GRCh37	8	69046352	69046352	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	41	14	.	.	ENST00000288368.4:c.3825del	p.Cys1276ValfsTer11	p.C1276Vfs*11	ENST00000288368	NM_024870.2	1275	gtC/gt	0	1	1	UPI0000375435	0		ENST00000288368		ENSG00000046889	22950		55			HGNC	p.V1275fs		PREX2		deletion							ENST00000288368	protein_coding			hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF1		V/X		-		4102/10750				Q56UR8_HUMAN			YES	PREX2,frameshift_variant,p.Cys1276ValfsTer11,ENST00000288368,NM_024870.2,NM_025170.4;							HIGH	3825/4821		PREX2_HUMAN			Transcript			.	ENSP00000288368		CCDS6201.1			1	
CYP2A7	0	LGGM	GRCh37	19	41387547	41387547	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	17	14	.	.	ENST00000301146.4:c.290A>G	p.Glu97Gly	p.E97G	ENST00000301146	NM_000764.2	97	gAg/gGg	0	1	1	UPI000013E6D5	0	getma.org/pdb.php?prot=CP2A7_HUMAN&from=34&to=491&var=E97G	ENST00000301146		ENSG00000198077	2611		31	3.02		HGNC	p.E97G		CYP2A7		SNV							ENST00000301146	protein_coding	getma.org/?cm=var&var=hg19,19,41387547,T,C&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463		E/G		C	medium	832/2281		getma.org/?cm=msa&ty=f&p=CP2A7_HUMAN&rb=34&re=491&var=E97G	deleterious(0.01)				YES	CYP2A7,missense_variant,p.Glu97Gly,ENST00000301146,NM_000764.2;CYP2A7,intron_variant,,ENST00000291764,NM_030589.2;CTC-490E21.12,intron_variant,,ENST00000601627,;CYP2A7,intron_variant,,ENST00000594332,;CYP2A7,upstream_gene_variant,,ENST00000598264,;CYP2A7,upstream_gene_variant,,ENST00000602008,;							MODERATE	290/1485	E97G	CP2A7_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000301146		CCDS12569.1			1	
VWF	0	LGGM	GRCh37	12	6128606	6128606	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	23	15	.	.	ENST00000261405.5:c.3978C>T	p.His1326=	p.H1326=	ENST00000261405	NM_000552.3	1326	caC/caT	0	1	1	UPI00001AE7EE	0		ENST00000261405		ENSG00000110799	12726		38			HGNC	p.H1326H	rs568918496	VWF		SNV			1	9.80E-05			ENST00000261405	protein_coding		A:0	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		H		A		4233/8838	4.54E-05			H2DLA2_HUMAN	A:0	A:0	YES	VWF,synonymous_variant,p.=,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;VWF,downstream_gene_variant,,ENST00000539641,;		A:0.0002					LOW	3978/8442		VWF_HUMAN		A:0.001	Transcript			.	ENSP00000261405	3.29E-05	CCDS8539.1		A:0	1	
KLK7	0	LGGM	GRCh37	19	51480848	51480848	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	28	16	.	.	ENST00000391807.1:c.706A>T	p.Thr236Ser	p.T236S	ENST00000391807	NM_139277.2	236	Act/Tct	0	1	1	UPI0000001BC4	0	getma.org/pdb.php?prot=KLK7_HUMAN&from=30&to=245&var=T236S	ENST00000391807		ENSG00000169035	6368		44	2.03		HGNC	p.T236S		KLK7		SNV							ENST00000595820	protein_coding	getma.org/?cm=var&var=hg19,19,51480848,T,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF41,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		T/S		A	medium	808/1927		getma.org/?cm=msa&ty=f&p=KLK7_HUMAN&rb=30&re=245&var=T236S	deleterious(0.03)	M0QYU8_HUMAN,B4DHX9_HUMAN			YES	KLK7,missense_variant,p.Thr236Ser,ENST00000391807,NM_139277.2;KLK7,missense_variant,p.Thr236Ser,ENST00000595820,NM_005046.3;KLK7,missense_variant,p.Thr123Ser,ENST00000336317,NM_001243126.1;KLK7,missense_variant,p.Thr164Ser,ENST00000597707,NM_001207053.1;KLK7,downstream_gene_variant,,ENST00000593904,;CTB-147C22.9,intron_variant,,ENST00000594512,;KLK7,downstream_gene_variant,,ENST00000595638,;KLK7,3_prime_UTR_variant,,ENST00000304045,;							MODERATE	706/762	T236S	KLK7_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000375683		CCDS12812.1			1	
USP7	0	LGGM	GRCh37	16	9012931	9012931	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	91	16	.	.	ENST00000344836.4:c.677A>G	p.Asn226Ser	p.N226S	ENST00000344836	NM_003470.2	226	aAc/aGc	0	1	1	UPI000013F0BE	0	getma.org/pdb.php?prot=UBP7_HUMAN&from=211&to=518&var=N226S	ENST00000344836		ENSG00000187555	12630		107	3.19		HGNC	p.N226S		USP7		SNV							ENST00000344836	protein_coding	getma.org/?cm=var&var=hg19,16,9012931,T,C&fts=all		Pfam_domain:PF00443,PROSITE_patterns:PS00972,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF89,Superfamily_domains:SSF54001		N/S		C	medium	876/5412		getma.org/?cm=msa&ty=f&p=UBP7_HUMAN&rb=211&re=518&var=N226S	deleterious(0)	H3BUV0_HUMAN,H3BTM1_HUMAN,H3BRA2_HUMAN,H3BND8_HUMAN,F5H8E5_HUMAN			YES	USP7,missense_variant,p.Asn226Ser,ENST00000344836,NM_003470.2,NM_001286458.1;USP7,missense_variant,p.Asn210Ser,ENST00000381886,NM_001286457.1;USP7,missense_variant,p.Asn127Ser,ENST00000535863,;USP7,missense_variant,p.Asn127Ser,ENST00000563085,;USP7,downstream_gene_variant,,ENST00000566273,;USP7,downstream_gene_variant,,ENST00000569230,;USP7,downstream_gene_variant,,ENST00000566004,;USP7,downstream_gene_variant,,ENST00000564117,;USP7,downstream_gene_variant,,ENST00000566224,;USP7,missense_variant,p.Asn168Ser,ENST00000542333,;USP7,3_prime_UTR_variant,,ENST00000563961,;USP7,3_prime_UTR_variant,,ENST00000565455,;							MODERATE	677/3309	N226S	UBP7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343535		CCDS32385.1			1	
TNFSF11	0	LGGM	GRCh37	13	43180693	43180693	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	36	17	.	.	ENST00000239849.6:c.593A>C	p.Asn198Thr	p.N198T	ENST00000239849		198	aAc/aCc	0	1		UPI000000103A	0	getma.org/pdb.php?prot=TNF11_HUMAN&from=185&to=313&var=N198T	ENST00000398795		ENSG00000120659	11926		53	2.395		HGNC	p.N125T		TNFSF11		SNV			1				ENST00000398795	protein_coding	getma.org/?cm=var&var=hg19,13,43180693,A,C&fts=all		Superfamily_domains:SSF49842,SMART_domains:SM00207,Gene3D:2.60.120.40,Pfam_domain:PF00229,hmmpanther:PTHR11471:SF3,hmmpanther:PTHR11471,PROSITE_profiles:PS50049		N/T		C	medium	742/2198		getma.org/?cm=msa&ty=f&p=TNF11_HUMAN&rb=185&re=313&var=N198T	deleterious(0)	Q54A98_HUMAN				TNFSF11,missense_variant,p.Asn125Thr,ENST00000398795,NM_003701.3;TNFSF11,missense_variant,p.Asn198Thr,ENST00000239849,;TNFSF11,missense_variant,p.Asn125Thr,ENST00000405262,;TNFSF11,missense_variant,p.Asn125Thr,ENST00000358545,NM_033012.3;TNFSF11,missense_variant,p.Asn125Thr,ENST00000544862,;							MODERATE	374/735	N198T	TNF11_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000381775		CCDS9385.1			1	
KAT2A	0	LGGM	GRCh37	17	40272780	40272780	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	36	18	.	.	ENST00000225916.5:c.407T>A	p.Leu136Gln	p.L136Q	ENST00000225916	NM_021078.2	136	cTg/cAg	0	1	1	UPI000000D978	0	NA	ENST00000225916		ENSG00000108773	4201		54	1.5		HGNC	p.L170Q		KAT2A		SNV							ENST00000592574	protein_coding	getma.org/?cm=var&var=hg19,17,40272780,A,T&fts=all		hmmpanther:PTHR22880:SF124,hmmpanther:PTHR22880,Pfam_domain:PF06466,PIRSF_domain:PIRSF003048		L/Q		T	low	461/3109		getma.org/?cm=msa&ty=f&p=KAT2A_HUMAN&rb=86&re=337&var=L136Q	tolerated(0.34)	K7ERS6_HUMAN			YES	KAT2A,missense_variant,p.Leu136Gln,ENST00000225916,NM_021078.2;CTD-2132N18.3,missense_variant,p.Leu170Gln,ENST00000592574,;RAB5C,downstream_gene_variant,,ENST00000393860,NM_201434.2;RAB5C,downstream_gene_variant,,ENST00000346213,NM_004583.3;RAB5C,downstream_gene_variant,,ENST00000547517,NM_001252039.1;HSPB9,upstream_gene_variant,,ENST00000355067,NM_033194.2;KAT2A,missense_variant,p.Leu54Gln,ENST00000465682,;CTD-2132N18.3,3_prime_UTR_variant,,ENST00000585562,;CTD-2132N18.3,intron_variant,,ENST00000592248,;KAT2A,upstream_gene_variant,,ENST00000592310,;KAT2A,upstream_gene_variant,,ENST00000588759,;							MODERATE	407/2514	L136Q	KAT2A_HUMAN			Transcript		benign(0.098)	.	ENSP00000225916		CCDS11417.1			1	
DNAH3	0	LGGM	GRCh37	16	20975923	20975923	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	42	19	.	.	ENST00000261383.3:c.9283A>T	p.Met3095Leu	p.M3095L	ENST00000261383	NM_017539.1	3095	Atg/Ttg	0	1	1	UPI00001100F2	0	getma.org/pdb.php?prot=DYH3_HUMAN&from=3044&to=3274&var=M3095L	ENST00000261383		ENSG00000158486	2949		61	1.475		HGNC	p.M3095L		DNAH3		SNV							ENST00000261383	protein_coding	getma.org/?cm=var&var=hg19,16,20975923,T,A&fts=all		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242		M/L		A	low	9283/12394		getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=3044&re=3274&var=M3095L	tolerated(0.13)				YES	DNAH3,missense_variant,p.Met3095Leu,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;							MODERATE	9283/12351	M3095L	DYH3_HUMAN			Transcript		benign(0.253)	.	ENSP00000261383		CCDS10594.1			1	
CBFA2T2	0	LGGM	GRCh37	20	32212630	32212630	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	47	20	.	.	ENST00000346541.3:c.780A>G	p.Val260=	p.V260=	ENST00000346541	NM_005093.3	260	gtA/gtG	0	1	1	UPI0000073E07	0		ENST00000346541		ENSG00000078699	1536	8.64E-05	67			HGNC	p.V231V	rs774486925,COSM1247393,COSM1247394	CBFA2T2		SNV						0,1,1	ENST00000397800	protein_coding			hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF13		V		G		1317/7737				Q68DC6_HUMAN,D1LYX4_HUMAN,B4DFM9_HUMAN,A2A2D9_HUMAN			YES	CBFA2T2,synonymous_variant,p.=,ENST00000492345,;CBFA2T2,synonymous_variant,p.=,ENST00000346541,NM_005093.3;CBFA2T2,synonymous_variant,p.=,ENST00000375279,;CBFA2T2,synonymous_variant,p.=,ENST00000397800,NM_001039709.1;CBFA2T2,synonymous_variant,p.=,ENST00000359606,;CBFA2T2,synonymous_variant,p.=,ENST00000342704,NM_001032999.2;CBFA2T2,downstream_gene_variant,,ENST00000397798,;CBFA2T2,downstream_gene_variant,,ENST00000344201,;CBFA2T2,non_coding_transcript_exon_variant,,ENST00000491618,;					0,1,1		LOW	780/1815		MTG8R_HUMAN			Transcript			.	ENSP00000262653	8.24E-06	CCDS13221.1			1	
ART4	0	LGGM	GRCh37	12	14993834	14993834	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	49	21	.	.	ENST00000228936.4:c.398A>G	p.His133Arg	p.H133R	ENST00000228936	NM_021071.2	133	cAt/cGt	0	1	1	UPI000004A87C	0	getma.org/pdb.php?prot=NAR4_HUMAN&from=55&to=277&var=H133R	ENST00000228936		ENSG00000111339	726		70	-0.01		HGNC	p.H133R		ART4		SNV			1				ENST00000228936	protein_coding	getma.org/?cm=var&var=hg19,12,14993834,T,C&fts=all		hmmpanther:PTHR10339:SF1,hmmpanther:PTHR10339,Pfam_domain:PF01129,Gene3D:3.90.176.10,Superfamily_domains:SSF56399		H/R		C	neutral	780/5129		getma.org/?cm=msa&ty=f&p=NAR4_HUMAN&rb=55&re=277&var=H133R	tolerated(0.79)	Q3KZ27_HUMAN			YES	ART4,missense_variant,p.His133Arg,ENST00000228936,NM_021071.2;ART4,missense_variant,p.His116Arg,ENST00000420600,;ART4,intron_variant,,ENST00000430129,;ART4,intron_variant,,ENST00000544616,;RP11-233G1.4,upstream_gene_variant,,ENST00000444324,;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;							MODERATE	398/945	H133R	NAR4_HUMAN			Transcript		benign(0.001)	.	ENSP00000228936		CCDS8668.1			1	
MPDZ	0	LGGM	GRCh37	9	13183508	13183508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	75	22	.	.	ENST00000541718.1:c.2558A>G	p.Tyr853Cys	p.Y853C	ENST00000541718	NM_001261407.1	853	tAc/tGc	0	1		UPI0000211133	0	NA	ENST00000319217		ENSG00000107186	7208		97	0.55		HGNC	p.Y853C	rs773524503	MPDZ		SNV			1				ENST00000536827	protein_coding	getma.org/?cm=var&var=hg19,9,13183508,T,C&fts=all		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10		Y/C		C	neutral	2806/7722	1.52E-05	getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=785&re=984&var=Y853C	deleterious(0.02)	B3KRN5_HUMAN,B3KQC9_HUMAN				MPDZ,missense_variant,p.Tyr853Cys,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Tyr853Cys,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Tyr853Cys,ENST00000381022,;MPDZ,missense_variant,p.Tyr853Cys,ENST00000381015,;MPDZ,missense_variant,p.Tyr853Cys,ENST00000546205,;MPDZ,missense_variant,p.Tyr853Cys,ENST00000447879,;MPDZ,missense_variant,p.Tyr853Cys,ENST00000536827,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;							MODERATE	2558/6213	Y853C	MPDZ_HUMAN			Transcript		benign(0.003)	.	ENSP00000320006	8.28E-06				1	
RXFP1	0	LGGM	GRCh37	4	159493862	159493862	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	50	22	.	.	ENST00000307765.5:c.62G>T	p.Gly21Val	p.G21V	ENST00000307765	NM_001253728.1	21	gGt/gTt	0	1	1	UPI000013EC4B	0	getma.org/pdb.php?prot=RXFP1_HUMAN&from=1&to=24&var=G21V	ENST00000307765		ENSG00000171509	19718		72	0		HGNC	p.G21V		RXFP1		SNV							ENST00000342048	protein_coding	getma.org/?cm=var&var=hg19,4,159493862,G,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18		G/V		T	neutral	313/3842		getma.org/?cm=msa&ty=f&p=RXFP1_HUMAN&rb=1&re=54&var=G21V	tolerated(0.38)	Q4W5D9_HUMAN,E9PCA3_HUMAN			YES	RXFP1,missense_variant,p.Gly21Val,ENST00000307765,NM_001253728.1,NM_001253730.1,NM_001253733.1,NM_001253732.1,NM_021634.3,NM_001253727.1;RXFP1,missense_variant,p.Gly21Val,ENST00000470033,;RXFP1,missense_variant,p.Gly21Val,ENST00000343542,NM_001253729.1;RXFP1,missense_variant,p.Gly21Val,ENST00000423548,;RXFP1,5_prime_UTR_variant,,ENST00000448688,;RXFP1,5_prime_UTR_variant,,ENST00000460056,;RXFP1,non_coding_transcript_exon_variant,,ENST00000484785,;RXFP1,missense_variant,p.Gly21Val,ENST00000342048,;RXFP1,missense_variant,p.Gly21Val,ENST00000471616,;							MODERATE	62/2274	G21V	RXFP1_HUMAN			Transcript		benign(0.002)	.	ENSP00000303248		CCDS43276.1			1	
ANO4	0	LGGM	GRCh37	12	101433743	101433743	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	49	24	.	.	ENST00000392979.3:c.803G>C	p.Arg268Thr	p.R268T	ENST00000392979	NM_178826.3	268	aGa/aCa	0	1		UPI0000577AB6	0	NA	ENST00000392977		ENSG00000151572	23837		73	0.945		HGNC	p.R303T		ANO4		SNV							ENST00000392977	protein_coding	getma.org/?cm=var&var=hg19,12,101433743,G,C&fts=all		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF28		R/T		C	low	1118/3509		getma.org/?cm=msa&ty=f&p=ANO4_HUMAN&rb=201&re=338&var=R303T	tolerated(0.72)					ANO4,missense_variant,p.Arg268Thr,ENST00000392979,NM_178826.3,NM_001286616.1;ANO4,missense_variant,p.Arg303Thr,ENST00000392977,NM_001286615.1;ANO4,5_prime_UTR_variant,,ENST00000299222,;RP11-350G24.1,upstream_gene_variant,,ENST00000549036,;ANO4,non_coding_transcript_exon_variant,,ENST00000549234,;ANO4,upstream_gene_variant,,ENST00000548940,;							MODERATE	908/2868	R303T	ANO4_HUMAN			Transcript		benign(0.045)	.	ENSP00000376703		CCDS66445.1			1	
ADD2	0	LGGM	GRCh37	2	70890765	70890765	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	24	24	.	.	ENST00000264436.4:c.1973C>T	p.Ala658Val	p.A658V	ENST00000264436	NM_001617.3	658	gCa/gTa	0	1	1	UPI0000125503	0	NA	ENST00000264436		ENSG00000075340	244		48	-1.24		HGNC	p.A658V		ADD2		SNV							ENST00000264436	protein_coding	getma.org/?cm=var&var=hg19,2,70890765,G,A&fts=all		hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672		A/V		A	neutral	2418/9267		getma.org/?cm=msa&ty=f&p=ADDB_HUMAN&rb=518&re=717&var=A658V	tolerated(0.57)	Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN			YES	ADD2,missense_variant,p.Ala658Val,ENST00000264436,NM_001617.3;ADD2,missense_variant,p.Ala658Val,ENST00000407644,NM_001185054.1;ADD2,3_prime_UTR_variant,,ENST00000355733,NM_017488.3;ADD2,missense_variant,p.Ala658Val,ENST00000403045,;ADD2,non_coding_transcript_exon_variant,,ENST00000481675,;							MODERATE	1973/2181	A658V	ADDB_HUMAN			Transcript		benign(0)	.	ENSP00000264436		CCDS1906.1			1	
ALOX12	0	LGGM	GRCh37	17	6908618	6908618	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	128	25	.	.	ENST00000251535.6:c.1204C>T	p.Arg402Trp	p.R402W	ENST00000251535	NM_000697.2	402	Cgg/Tgg	0	1	1	UPI000013CD03	0	getma.org/pdb.php?prot=LOX12_HUMAN&from=121&to=655&var=R402W	ENST00000251535		ENSG00000108839	429		153	2.555		HGNC	p.R402W		ALOX12		SNV			1				ENST00000251535	protein_coding	getma.org/?cm=var&var=hg19,17,6908618,C,T&fts=all		Gene3D:1.20.245.10,Pfam_domain:PF00305,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF4,Superfamily_domains:SSF48484		R/W		T	medium	1257/2358		getma.org/?cm=msa&ty=f&p=LOX12_HUMAN&rb=121&re=655&var=R402W	deleterious(0)				YES	ALOX12,missense_variant,p.Arg402Trp,ENST00000251535,NM_000697.2;AC027763.2,intron_variant,,ENST00000399540,;AC027763.2,intron_variant,,ENST00000574377,;AC027763.2,intron_variant,,ENST00000399541,;AC027763.2,intron_variant,,ENST00000575727,;AC027763.2,intron_variant,,ENST00000573939,;AC027763.2,intron_variant,,ENST00000575889,;ALOX12,downstream_gene_variant,,ENST00000480801,;RP11-589P10.7,intron_variant,,ENST00000572547,;AC027763.2,intron_variant,,ENST00000572385,;AC027763.2,intron_variant,,ENST00000570562,;AC027763.2,intron_variant,,ENST00000571010,;ALOX12,upstream_gene_variant,,ENST00000406228,;							MODERATE	1204/1992	R402W	LOX12_HUMAN			Transcript		possibly_damaging(0.659)	.	ENSP00000251535		CCDS11084.1			1	
A2M	0	LGGM	GRCh37	12	9256925	9256925	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	70	27	.	.	ENST00000318602.7:c.1176C>T	p.Asn392=	p.N392=	ENST00000318602	NM_000014.4	392	aaC/aaT	0	1	1	UPI000014038F	0		ENST00000318602		ENSG00000175899	7		97			HGNC	p.N392N		A2M		SNV							ENST00000318602	protein_coding			hmmpanther:PTHR11412:SF75,hmmpanther:PTHR11412		N		A		1484/4844				Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN			YES	A2M,synonymous_variant,p.=,ENST00000318602,NM_000014.4;A2M,non_coding_transcript_exon_variant,,ENST00000545828,;A2M,upstream_gene_variant,,ENST00000472360,;A2M,upstream_gene_variant,,ENST00000546069,;							LOW	1176/4425		A2MG_HUMAN			Transcript			.	ENSP00000323929		CCDS44827.1			1	
DCAF12	0	LGGM	GRCh37	9	34088367	34088367	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093528	H093528N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	24	28	.	.	ENST00000361264.4:c.1343A>G	p.Tyr448Cys	p.Y448C	ENST00000361264	NM_015397.3	448	tAt/tGt	0	1	1	UPI00000372E8	0	NA	ENST00000361264		ENSG00000198876	19911		52	2.08		HGNC	p.Y448C		DCAF12		SNV							ENST00000361264	protein_coding	getma.org/?cm=var&var=hg19,9,34088367,T,C&fts=all		hmmpanther:PTHR19860:SF10,hmmpanther:PTHR19860		Y/C		C	medium	1685/3667		getma.org/?cm=msa&ty=f&p=DCA12_HUMAN&rb=412&re=453&var=Y448C	deleterious(0)				YES	DCAF12,missense_variant,p.Tyr448Cys,ENST00000361264,NM_015397.3;RP11-537H15.3,intron_variant,,ENST00000448245,;DCAF12,downstream_gene_variant,,ENST00000466402,;							MODERATE	1343/1362	Y448C	DCA12_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355114		CCDS6549.1			1	
ALS2CR11	0	LGGM	GRCh37	2	202358732	202358732	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	75	31	.	.	ENST00000439140.1:c.2332G>A	p.Gly778Ser	p.G778S	ENST00000439140	NM_001168221.1	778	Ggt/Agt	0	1		UPI000013DE33	0	NA	ENST00000286195		ENSG00000155754	14438		106	1.04		HGNC	p.G778S		ALS2CR11		SNV							ENST00000439140	protein_coding	getma.org/?cm=var&var=hg19,2,202358732,C,T&fts=all						T	low	-/2104		getma.org/?cm=msa&ty=f&p=E9PGG4_HUMAN&rb=1&re=1818&var=G778S						ALS2CR11,missense_variant,p.Gly778Ser,ENST00000439140,NM_001168221.1;ALS2CR11,intron_variant,,ENST00000286195,NM_152525.5;ALS2CR11,intron_variant,,ENST00000439802,NM_001168216.1;ALS2CR11,intron_variant,,ENST00000482942,;							MODIFIER	-/1872	G778S	AL2SA_HUMAN			Transcript			.	ENSP00000286195		CCDS2349.1			1	
BTBD16	0	LGGM	GRCh37	10	124049471	124049471	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	36	31	.	.	ENST00000260723.4:c.433A>G	p.Ile145Val	p.I145V	ENST00000260723	NM_144587.2	145	Atc/Gtc	0	1	1	UPI00003CEFB9	0	NA	ENST00000260723		ENSG00000138152	26340		67	1.03		HGNC	p.I146V		BTBD16		SNV							ENST00000368994	protein_coding	getma.org/?cm=var&var=hg19,10,124049471,A,G&fts=all		hmmpanther:PTHR23231,hmmpanther:PTHR23231:SF13,Gene3D:3.30.710.10		I/V		G	low	684/1849		getma.org/?cm=msa&ty=f&p=BTBDG_HUMAN&rb=1&re=200&var=I145V	tolerated(0.47)				YES	BTBD16,missense_variant,p.Ile146Val,ENST00000368994,;BTBD16,missense_variant,p.Ile145Val,ENST00000260723,NM_144587.2;BTBD16,upstream_gene_variant,,ENST00000507495,;							MODERATE	433/1521	I145V	BTBDG_HUMAN			Transcript		benign(0.015)	.	ENSP00000260723		CCDS31301.1			1	
OGDH	0	LGGM	GRCh37	7	44664165	44664165	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	44	36	.	.	ENST00000222673.5:c.222+1G>A		p.X74_splice	ENST00000222673	NM_002541.3			0	1	1	UPI000006D5FE	0		ENST00000222673		ENSG00000105953	8124		80			HGNC	-		OGDH		SNV							ENST00000439616	protein_coding							A		-/4181				C9J4G7_HUMAN			YES	OGDH,splice_donor_variant,,ENST00000222673,NM_002541.3;OGDH,splice_donor_variant,,ENST00000449767,NM_001165036.1;OGDH,splice_donor_variant,,ENST00000447398,;OGDH,splice_donor_variant,,ENST00000444676,;OGDH,splice_donor_variant,,ENST00000543843,;OGDH,splice_donor_variant,,ENST00000439616,;OGDH,splice_donor_variant,,ENST00000443864,NM_001003941.2;OGDH,splice_donor_variant,,ENST00000419661,;							HIGH	222/3072		ODO1_HUMAN			Transcript			.	ENSP00000222673		CCDS34627.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18706908	18706908	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	15	36	.	.	ENST00000380548.4:c.1738G>A	p.Ala580Thr	p.A580T	ENST00000380548	NM_001040272.5	580	Gca/Aca	0	1	1	UPI000004FD83	0	NA	ENST00000380548		ENSG00000178031	14632		51	-0.16		HGNC	p.A580T		ADAMTSL1		SNV							ENST00000380548	protein_coding	getma.org/?cm=var&var=hg19,9,18706908,G,A&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		A/T		A	neutral	2077/8030		getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=528&re=583&var=A580T	tolerated(0.57)	H7BYE3_HUMAN			YES	ADAMTSL1,missense_variant,p.Ala580Thr,ENST00000380548,NM_001040272.5;ADAMTSL1,missense_variant,p.Ala580Thr,ENST00000276935,;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,;							MODERATE	1738/5289	A580T	ATL1_HUMAN			Transcript		benign(0.142)	.	ENSP00000369921		CCDS47954.1			1	
MAPK10	0	LGGM	GRCh37	4	87115530	87115530	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	66	37	.	.	ENST00000359221.3:c.25T>C	p.Cys9Arg	p.C9R	ENST00000359221		9	Tgc/Cgc	0	1	1	UPI0000049042	0	NA	ENST00000359221		ENSG00000109339	6872		103	0		HGNC	p.C9R	rs377041755	MAPK10		SNV	G:0		1				ENST00000511328	protein_coding	getma.org/?cm=var&var=hg19,4,87115530,A,G&fts=all		hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF162		C/R	G:0.0001	G	neutral	552/2672		getma.org/?cm=msa&ty=f&p=MK10_HUMAN&rb=1&re=63&var=C9R	deleterious_low_confidence(0)	D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN			YES	MAPK10,missense_variant,p.Cys9Arg,ENST00000359221,;MAPK10,missense_variant,p.Cys9Arg,ENST00000361569,NM_002753.3;MAPK10,missense_variant,p.Cys9Arg,ENST00000395161,;MAPK10,missense_variant,p.Cys9Arg,ENST00000511167,;MAPK10,missense_variant,p.Cys9Arg,ENST00000512017,;MAPK10,missense_variant,p.Cys9Arg,ENST00000503911,;MAPK10,missense_variant,p.Cys9Arg,ENST00000511328,;MAPK10,missense_variant,p.Cys9Arg,ENST00000506773,;MAPK10,missense_variant,p.Cys9Arg,ENST00000513186,;MAPK10,5_prime_UTR_variant,,ENST00000395169,NM_138980.2,NM_138982.2;MAPK10,5_prime_UTR_variant,,ENST00000395166,;MAPK10,5_prime_UTR_variant,,ENST00000449047,;MAPK10,5_prime_UTR_variant,,ENST00000512689,;MAPK10,5_prime_UTR_variant,,ENST00000512564,;MAPK10,5_prime_UTR_variant,,ENST00000502302,;MAPK10,5_prime_UTR_variant,,ENST00000509464,;RP11-778J15.1,intron_variant,,ENST00000511917,;MAPK10,non_coding_transcript_exon_variant,,ENST00000513839,;MAPK10,non_coding_transcript_exon_variant,,ENST00000505356,;MAPK10,missense_variant,p.Cys9Arg,ENST00000310816,;							MODERATE	25/1395	C9R	MK10_HUMAN			Transcript		benign(0.023)	.	ENSP00000352157		CCDS34026.1			1	
DYSF	0	LGGM	GRCh37	2	71753397	71753397	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	53	38	.	.	ENST00000410020.3:c.1197C>A	p.Asn399Lys	p.N399K	ENST00000410020	NM_001130987.1	399	aaC/aaA	0	1		UPI0000129A56	0	NA	ENST00000258104		ENSG00000135636	3097		91	2.8		HGNC	p.N399K	DYSF:c.1101C>A	DYSF		SNV			1				ENST00000410020	protein_coding	getma.org/?cm=var&var=hg19,2,71753397,C,A&fts=all		Pfam_domain:PF08151,hmmpanther:PTHR12546:SF35,hmmpanther:PTHR12546		N/K		A	medium	1378/6796		getma.org/?cm=msa&ty=f&p=DYSF_HUMAN&rb=303&re=374&var=N367K	deleterious(0)	Q7Z6P1_HUMAN,B7Z2R1_HUMAN				DYSF,missense_variant,p.Asn367Lys,ENST00000258104,NM_003494.3,NM_001130976.1;DYSF,missense_variant,p.Asn398Lys,ENST00000409582,NM_001130981.1;DYSF,missense_variant,p.Asn398Lys,ENST00000413539,NM_001130979.1;DYSF,missense_variant,p.Asn367Lys,ENST00000429174,NM_001130978.1,NM_001130977.1;DYSF,missense_variant,p.Asn398Lys,ENST00000409762,NM_001130980.1;DYSF,missense_variant,p.Asn399Lys,ENST00000410020,NM_001130987.1;DYSF,missense_variant,p.Asn399Lys,ENST00000409651,NM_001130982.1;DYSF,missense_variant,p.Asn368Lys,ENST00000409366,NM_001130983.1;DYSF,missense_variant,p.Asn399Lys,ENST00000410041,NM_001130985.1;DYSF,missense_variant,p.Asn368Lys,ENST00000409744,NM_001130984.1;DYSF,missense_variant,p.Asn368Lys,ENST00000394120,NM_001130986.1,NM_001130455.1;							MODERATE	1101/6243	N367K	DYSF_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258104		CCDS1918.1			1	
PINX1	0	LGGM	GRCh37	8	10623217	10623217	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	26	42	.	.	ENST00000314787.3:c.681C>T	p.Tyr227=	p.Y227=	ENST00000314787	NM_017884.4	227	taC/taT	0	1	1	UPI0000001BC7	0		ENST00000314787		ENSG00000254093	30046		68			HGNC	p.Y227Y		PINX1		SNV							ENST00000314787	protein_coding			hmmpanther:PTHR23149:SF9,hmmpanther:PTHR23149		Y		A		801/1545							YES	PINX1,synonymous_variant,p.=,ENST00000314787,NM_017884.4;PINX1,3_prime_UTR_variant,,ENST00000426190,;PINX1,3_prime_UTR_variant,,ENST00000519088,NM_001284356.1;SOX7,intron_variant,,ENST00000553390,;SOX7,intron_variant,,ENST00000554914,;PINX1,downstream_gene_variant,,ENST00000524114,;CTD-2135J3.3,intron_variant,,ENST00000519568,;CTD-2135J3.3,downstream_gene_variant,,ENST00000506149,;PINX1,downstream_gene_variant,,ENST00000523559,;							LOW	681/987		PINX1_HUMAN			Transcript			.	ENSP00000318966		CCDS47801.1			1	
RAB6C	0	LGGM	GRCh37	2	130738132	130738132	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093528	H093528N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	107	46	.	.	ENST00000410061.2:c.444G>T	p.Leu148=	p.L148=	ENST00000410061	NM_032144.2	148	ctG/ctT	0	1	1	UPI00001AF8C6	0		ENST00000410061		ENSG00000222014	16525		153			HGNC	p.L148L		RAB6C		SNV							ENST00000410061	protein_coding			PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF373,hmmpanther:PTHR24073,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,Superfamily_domains:SSF52540		L		T		898/3077							YES	RAB6C,synonymous_variant,p.=,ENST00000410061,NM_032144.2;RAB6C-AS1,upstream_gene_variant,,ENST00000412425,;							LOW	444/765		RAB6C_HUMAN			Transcript			.	ENSP00000387307		CCDS46408.1			1	
GRHL1	0	LGGM	GRCh37	2	10136067	10136067	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	92	48	.	.	ENST00000324907.9:c.1560C>T	p.Thr520=	p.T520=	ENST00000324907	NM_198182.2	520	acC/acT	0	1	1	UPI00001E0586	0		ENST00000324907		ENSG00000134317	17923		140			HGNC	p.T520T		GRHL1		SNV							ENST00000324907	protein_coding			hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF16		T		T		1696/3563				F8WFB0_HUMAN,C9JYY8_HUMAN			YES	GRHL1,synonymous_variant,p.=,ENST00000324907,NM_198182.2;GRHL1,synonymous_variant,p.=,ENST00000324883,;GRHL1,synonymous_variant,p.=,ENST00000405379,;GRHL1,5_prime_UTR_variant,,ENST00000480736,;GRHL1,3_prime_UTR_variant,,ENST00000464418,;GRHL1,3_prime_UTR_variant,,ENST00000472167,;							LOW	1560/1857		GRHL1_HUMAN			Transcript			.	ENSP00000324693		CCDS33144.2			1	
DTHD1	0	LGGM	GRCh37	4	36296568	36296568	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093528	H093528N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	89	48	.	.	ENST00000456874.2:c.1175C>T	p.Pro392Leu	p.P392L	ENST00000456874	NM_001170700.2	392	cCa/cTa	0	1	1	UPI00006C079E	0	NA	ENST00000456874		ENSG00000197057	37261		137	2.045		HGNC	p.P432L		DTHD1		SNV							ENST00000507598	protein_coding	getma.org/?cm=var&var=hg19,4,36296568,C,T&fts=all		hmmpanther:PTHR24199:SF7,hmmpanther:PTHR24199		P/L		T	medium	1233/4335		getma.org/?cm=msa&ty=f&p=DTHD1_HUMAN&rb=360&re=559&var=P392L	deleterious(0.02)				YES	DTHD1,missense_variant,p.Pro392Leu,ENST00000456874,NM_001170700.2;DTHD1,missense_variant,p.Pro227Leu,ENST00000357504,NM_001136536.4;DTHD1,missense_variant,p.Pro432Leu,ENST00000507598,;							MODERATE	1175/2346	P392L	DTHD1_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000401597		CCDS54754.1			1	
FLG2	0	LGGM	GRCh37	1	152328489	152328489	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093528	H093528N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093528N.bam, H093528T.bam	Illumina HiSeq	132	77	.	.	ENST00000388718.5:c.1773T>C	p.Ser591=	p.S591=	ENST00000388718	NM_001014342.2	591	tcT/tcC	0	1	1	UPI00004E1DE5	0		ENST00000388718		ENSG00000143520	33276		209			HGNC	p.S591S		FLG2		SNV							ENST00000388718	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		S		G		1846/9124							YES	FLG2,synonymous_variant,p.=,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							LOW	1773/7176		FILA2_HUMAN			Transcript			.	ENSP00000373370		CCDS30861.1			1	
TPST2	0	LGGM	GRCh37	22	26932363	26932363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	40	3	.	.	ENST00000338754.4:c.932G>T	p.Arg311Leu	p.R311L	ENST00000338754	NM_003595.3	311	cGg/cTg	0	1	1	UPI0000000C23	0	getma.org/pdb.php?prot=TPST2_HUMAN&from=264&to=377&var=R311L	ENST00000338754		ENSG00000128294	12021		43	1.905		HGNC	p.R311L		TPST2		SNV							ENST00000398110	protein_coding	getma.org/?cm=var&var=hg19,22,26932363,C,A&fts=all		hmmpanther:PTHR12788,hmmpanther:PTHR12788:SF5,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		R/L		A	medium	1203/2188		getma.org/?cm=msa&ty=f&p=TPST2_HUMAN&rb=264&re=377&var=R311L	deleterious(0.04)	B7Z976_HUMAN,B1AHK0_HUMAN,B1AHJ9_HUMAN,B1AHJ8_HUMAN,B1AHJ7_HUMAN,B1AHJ6_HUMAN			YES	TPST2,missense_variant,p.Arg311Leu,ENST00000338754,NM_003595.3;TPST2,missense_variant,p.Arg311Leu,ENST00000403880,;TPST2,missense_variant,p.Arg311Leu,ENST00000398110,NM_001008566.1;TPST2,missense_variant,p.Arg58Leu,ENST00000445720,;TPST2,downstream_gene_variant,,ENST00000442495,;TPST2,downstream_gene_variant,,ENST00000454778,;							MODERATE	932/1134	R311L	TPST2_HUMAN			Transcript		benign(0.066)	.	ENSP00000339813		CCDS13839.1			1	
DDX51	0	LGGM	GRCh37	12	132626442	132626442	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	30	3	.	.	ENST00000397333.3:c.948G>T	p.Thr316=	p.T316=	ENST00000397333	NM_175066.3	316	acG/acT	0	1	1	UPI000049DD95	0		ENST00000397333		ENSG00000185163	20082		33			HGNC	p.T316T		DDX51		SNV							ENST00000397333	protein_coding			PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF68,Gene3D:3.40.50.300,Pfam_domain:PF00270,SMART_domains:SM00487,Superfamily_domains:SSF52540		T		A		987/4718							YES	DDX51,synonymous_variant,p.=,ENST00000397333,NM_175066.3;NOC4L,upstream_gene_variant,,ENST00000330579,NM_024078.1;NOC4L,upstream_gene_variant,,ENST00000541954,;DDX51,non_coding_transcript_exon_variant,,ENST00000329073,;DDX51,non_coding_transcript_exon_variant,,ENST00000545991,;DDX51,non_coding_transcript_exon_variant,,ENST00000546058,;DDX51,upstream_gene_variant,,ENST00000462829,;DDX51,upstream_gene_variant,,ENST00000541489,;							LOW	948/2001		DDX51_HUMAN			Transcript			.	ENSP00000380495		CCDS41865.1			1	
PSD2	0	LGGM	GRCh37	5	139218280	139218280	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	17	3	.	.	ENST00000274710.3:c.1891G>T	p.Ala631Ser	p.A631S	ENST00000274710	NM_032289.2	631	Gcc/Tcc	0	1	1	UPI0000073C6B	0	NA	ENST00000274710		ENSG00000146005	19092		20	1.295		HGNC	p.A631S		PSD2		SNV							ENST00000274710	protein_coding	getma.org/?cm=var&var=hg19,5,139218280,G,T&fts=all		hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF109,Low_complexity_(Seg):seg,Superfamily_domains:SSF50729		A/S		T	low	2096/4513		getma.org/?cm=msa&ty=f&p=PSD2_HUMAN&rb=626&re=771&var=A631S	tolerated(0.08)				YES	PSD2,missense_variant,p.Ala631Ser,ENST00000274710,NM_032289.2;							MODERATE	1891/2316	A631S	PSD2_HUMAN			Transcript		benign(0.048)	.	ENSP00000274710		CCDS4216.1			1	
SYTL5	0	LGGM	GRCh37	X	37969661	37969661	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	47	3	.	.	ENST00000456733.2:c.1588G>T	p.Gly530Trp	p.G530W	ENST00000456733	NM_001163334.1	530	Ggg/Tgg	0	1		UPI000006DDEA	0	getma.org/pdb.php?prot=SYTL5_HUMAN&from=423&to=511&var=G508W	ENST00000297875		ENSG00000147041	15589		50	4.545		HGNC	p.G508W		SYTL5		SNV							ENST00000357972	protein_coding	getma.org/?cm=var&var=hg19,X,37969661,G,T&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF13,PROSITE_profiles:PS50004		G/W		T	high	1965/4722		getma.org/?cm=msa&ty=f&p=SYTL5_HUMAN&rb=423&re=511&var=G508W	deleterious(0)					SYTL5,missense_variant,p.Gly508Trp,ENST00000357972,;SYTL5,missense_variant,p.Gly508Trp,ENST00000297875,NM_001163335.1,NM_138780.2;SYTL5,missense_variant,p.Gly530Trp,ENST00000456733,NM_001163334.1;TM4SF2,intron_variant,,ENST00000465127,;							MODERATE	1522/2193	G508W	SYTL5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297875		CCDS14244.1			1	
KCNH3	0	LGGM	GRCh37	12	49951171	49951171	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	10	3	.	.	ENST00000257981.6:c.2687G>T	p.Arg896Leu	p.R896L	ENST00000257981	NM_012284.1	896	cGg/cTg	0	1	1	UPI000012DCA6	0	NA	ENST00000257981		ENSG00000135519	6252		13	0		HGNC	p.R896L	rs753531500	KCNH3		SNV							ENST00000257981	protein_coding	getma.org/?cm=var&var=hg19,12,49951171,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF481		R/L		T	neutral	2947/3867	1.55E-05	getma.org/?cm=msa&ty=f&p=KCNH3_HUMAN&rb=823&re=1081&var=R896L	tolerated(0.07)	Q8N500_HUMAN			YES	KCNH3,missense_variant,p.Arg896Leu,ENST00000257981,NM_012284.1;MCRS1,intron_variant,,ENST00000551598,;MCRS1,downstream_gene_variant,,ENST00000550165,;MCRS1,downstream_gene_variant,,ENST00000343810,NM_006337.4;MCRS1,downstream_gene_variant,,ENST00000546244,NM_001278341.1;MCRS1,downstream_gene_variant,,ENST00000357123,NM_001012300.1;MCRS1,downstream_gene_variant,,ENST00000553173,;MCRS1,downstream_gene_variant,,ENST00000547182,;KCNH3,non_coding_transcript_exon_variant,,ENST00000548675,;MCRS1,downstream_gene_variant,,ENST00000551625,;MCRS1,downstream_gene_variant,,ENST00000548602,;MCRS1,downstream_gene_variant,,ENST00000549000,;MCRS1,downstream_gene_variant,,ENST00000552596,;MCRS1,downstream_gene_variant,,ENST00000548646,;							MODERATE	2687/3252	R896L	KCNH3_HUMAN			Transcript		possibly_damaging(0.57)	.	ENSP00000257981	8.24E-06	CCDS8786.1			1	
HINFP	0	LGGM	GRCh37	11	119002333	119002333	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	31	3	.	.	ENST00000350777.2:c.500C>A	p.Pro167Gln	p.P167Q	ENST00000350777	NM_198971.2	167	cCg/cAg	0	1	1	UPI000013EB5D	0	NA	ENST00000350777		ENSG00000172273	17850		34	0.2		HGNC	p.P167Q		HINFP		SNV							ENST00000350777	protein_coding	getma.org/?cm=var&var=hg19,11,119002333,C,A&fts=all		hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF3		P/Q		A	neutral	563/3161		getma.org/?cm=msa&ty=f&p=HINFP_HUMAN&rb=1&re=184&var=P167Q	tolerated(0.69)	E9PL67_HUMAN,E9PJA3_HUMAN			YES	HINFP,missense_variant,p.Pro167Gln,ENST00000350777,NM_198971.2,NM_015517.4,NM_001243259.1;HINFP,missense_variant,p.Pro167Gln,ENST00000527410,;HINFP,downstream_gene_variant,,ENST00000532312,;HINFP,downstream_gene_variant,,ENST00000530678,;HINFP,downstream_gene_variant,,ENST00000529988,;HINFP,non_coding_transcript_exon_variant,,ENST00000527354,;HINFP,non_coding_transcript_exon_variant,,ENST00000527755,;HINFP,non_coding_transcript_exon_variant,,ENST00000531022,;HINFP,non_coding_transcript_exon_variant,,ENST00000529808,;HINFP,non_coding_transcript_exon_variant,,ENST00000529610,;HINFP,downstream_gene_variant,,ENST00000529354,;HINFP,upstream_gene_variant,,ENST00000532860,;HINFP,downstream_gene_variant,,ENST00000531360,;HINFP,downstream_gene_variant,,ENST00000527206,;							MODERATE	500/1554	P167Q	HINFP_HUMAN			Transcript		benign(0)	.	ENSP00000318085		CCDS8414.1			1	
SCN8A	0	LGGM	GRCh37	12	52162883	52162883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	3	.	.	ENST00000354534.6:c.3136G>T	p.Ala1046Ser	p.A1046S	ENST00000354534	NM_014191.3	1046	Gcc/Tcc	0	1	1	UPI000006FD85	0	NA	ENST00000354534		ENSG00000196876	10596		42	0.02		HGNC	p.A1046S		SCN8A		SNV			1				ENST00000545061	protein_coding	getma.org/?cm=var&var=hg19,12,52162883,G,T&fts=all		Pfam_domain:PF06512,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132		A/S		T	neutral	3314/11556		getma.org/?cm=msa&ty=f&p=SCN8A_HUMAN&rb=991&re=1208&var=A1046S	tolerated(1)	Q9P2Q6_HUMAN,Q8WWN3_HUMAN			YES	SCN8A,missense_variant,p.Ala1046Ser,ENST00000354534,NM_014191.3,NM_001177984.2;SCN8A,missense_variant,p.Ala1046Ser,ENST00000545061,;SCN8A,missense_variant,p.Ala1046Ser,ENST00000355133,;SCN8A,downstream_gene_variant,,ENST00000550891,;							MODERATE	3136/5943	A1046S	SCN8A_HUMAN			Transcript		benign(0.035)	.	ENSP00000346534		CCDS44891.1			1	
SYPL2	0	LGGM	GRCh37	1	110019592	110019592	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	28	3	.	.	ENST00000369872.3:c.449C>A	p.Pro150Gln	p.P150Q	ENST00000369872	NM_001040709.1	150	cCg/cAg	0	1	1	UPI0000047AE5	0	NA	ENST00000369872		ENSG00000143028	27638		31	2.62		HGNC	p.P150Q		SYPL2		SNV							ENST00000401021	protein_coding	getma.org/?cm=var&var=hg19,1,110019592,C,A&fts=all		Pfam_domain:PF01284,Prints_domain:PR00220,PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF8,Transmembrane_helices:TMhelix		P/Q		A	medium	665/3624		getma.org/?cm=msa&ty=f&p=SYPL2_HUMAN&rb=30&re=232&var=P150Q	deleterious(0)	B4DWF6_HUMAN			YES	SYPL2,missense_variant,p.Pro150Gln,ENST00000369872,NM_001040709.1;SYPL2,missense_variant,p.Pro150Gln,ENST00000401021,;SYPL2,downstream_gene_variant,,ENST00000475497,;							MODERATE	449/819	P150Q	SYPL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358888		CCDS41365.1			1	
ETF1	0	LGGM	GRCh37	5	137846741	137846741	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	43	3	.	.	ENST00000360541.5:c.1011C>A	p.Gly337=	p.G337=	ENST00000360541	NM_004730.3	337	ggC/ggA	0	1	1	UPI00001110CB	0		ENST00000360541		ENSG00000120705	3477		46			HGNC	p.G304G		ETF1		SNV							ENST00000499810	protein_coding			hmmpanther:PTHR10113,hmmpanther:PTHR10113:SF7,Gene3D:3.30.1330.30,Pfam_domain:PF03465,TIGRFAM_domain:TIGR03676,Superfamily_domains:SSF55315		G		T		1233/3742				Q96CG1_HUMAN,I3L492_HUMAN,D6RJE8_HUMAN			YES	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,downstream_gene_variant,,ENST00000572514,;ETF1,downstream_gene_variant,,ENST00000507939,;ETF1,downstream_gene_variant,,ENST00000506345,;ETF1,downstream_gene_variant,,ENST00000512198,;ETF1,downstream_gene_variant,,ENST00000503183,;							LOW	1011/1314		ERF1_HUMAN			Transcript			.	ENSP00000353741		CCDS4207.1			1	
SLC16A13	0	LGGM	GRCh37	17	6943091	6943091	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	47	3	.	.	ENST00000308027.6:c.1091G>T	p.Arg364Leu	p.R364L	ENST00000308027	NM_201566.2	364	cGg/cTg	0	1	1	UPI000015FA66	0	NA	ENST00000308027		ENSG00000174327	31037		50	1.22		HGNC	p.R364L		SLC16A13		SNV							ENST00000308027	protein_coding	getma.org/?cm=var&var=hg19,17,6943091,G,T&fts=all		Gene3D:1.20.1250.20,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF19,Superfamily_domains:SSF103473		R/L		T	low	1399/1748		getma.org/?cm=msa&ty=f&p=MOT13_HUMAN&rb=220&re=406&var=R364L	tolerated(0.11)				YES	SLC16A13,missense_variant,p.Arg364Leu,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,;							MODERATE	1091/1281	R364L	MOT13_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000309751		CCDS11085.1			1	
TGM6	0	LGGM	GRCh37	20	2377223	2377223	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	12	3	.	.	ENST00000202625.2:c.496C>A	p.Arg166=	p.R166=	ENST00000202625	NM_198994.2	166	Cga/Aga	0	1	1	UPI0000367011	0		ENST00000202625		ENSG00000166948	16255		15			HGNC	p.R166R		TGM6		SNV			1				ENST00000202625	protein_coding			hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF39,Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,Superfamily_domains:SSF54001		R		A		557/2292							YES	TGM6,synonymous_variant,p.=,ENST00000202625,NM_198994.2;TGM6,synonymous_variant,p.=,ENST00000381423,NM_001254734.1;TGM6,intron_variant,,ENST00000477505,;							LOW	496/2121		TGM3L_HUMAN			Transcript			.	ENSP00000202625		CCDS13025.1			1	
FAM46B	0	LGGM	GRCh37	1	27333359	27333359	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	17	3	.	.	ENST00000289166.5:c.354G>T	p.Glu118Asp	p.E118D	ENST00000289166	NM_052943.3	118	gaG/gaT	0	1	1	UPI0000374A6A	0	NA	ENST00000289166		ENSG00000158246	28273		20	-1.565		HGNC	p.E118D		FAM46B		SNV							ENST00000289166	protein_coding	getma.org/?cm=var&var=hg19,1,27333359,C,A&fts=all		Pfam_domain:PF07984,hmmpanther:PTHR12974:SF33,hmmpanther:PTHR12974		E/D		A	neutral	520/2368		getma.org/?cm=msa&ty=f&p=FA46B_HUMAN&rb=52&re=372&var=E118D	tolerated(1)				YES	FAM46B,missense_variant,p.Glu118Asp,ENST00000289166,NM_052943.3;							MODERATE	354/1278	E118D	FA46B_HUMAN			Transcript		benign(0.011)	.	ENSP00000289166		CCDS294.2			1	
UCHL3	0	LGGM	GRCh37	13	76178907	76178907	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	40	3	.	.	ENST00000377595.3:c.553G>T	p.Gly185Trp	p.G185W	ENST00000377595	NM_006002.4	185	Ggg/Tgg	0	1	1	UPI000004D00E	0	getma.org/pdb.php?prot=UCHL3_HUMAN&from=5&to=216&var=G185W	ENST00000377595		ENSG00000118939	12515		43	4.06		HGNC	p.G183W		UCHL3		SNV							ENST00000419068	protein_coding	getma.org/?cm=var&var=hg19,13,76178907,G,T&fts=all		Gene3D:3.40.532.10,Pfam_domain:PF01088,Prints_domain:PR00707,hmmpanther:PTHR10589,hmmpanther:PTHR10589:SF24,Superfamily_domains:SSF54001		G/W		T	high	583/844		getma.org/?cm=msa&ty=f&p=UCHL3_HUMAN&rb=5&re=216&var=G185W	deleterious(0)				YES	UCHL3,missense_variant,p.Gly185Trp,ENST00000377595,NM_006002.4,NM_001270952.1;UCHL3,missense_variant,p.Gly183Trp,ENST00000419068,;RP11-173B14.5,non_coding_transcript_exon_variant,,ENST00000568302,;RP11-173B14.5,downstream_gene_variant,,ENST00000568735,;UCHL3,splice_region_variant,,ENST00000606347,;UCHL3,non_coding_transcript_exon_variant,,ENST00000607339,;RP11-29G8.3,intron_variant,,ENST00000563635,;RP11-29G8.3,intron_variant,,ENST00000570285,;							MODERATE	553/693	G185W	UCHL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000366819		CCDS9453.1			1	
TMEM194B	0	LGGM	GRCh37	2	191379246	191379246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	35	3	.	.	ENST00000409150.3:c.886G>T	p.Ala296Ser	p.A296S	ENST00000409150	NM_001142645.1	296	Gcc/Tcc	0	1	1	UPI00015B7C1F	0	NA	ENST00000409150		ENSG00000189362	33700		38	1.78		HGNC	p.A296S		TMEM194B		SNV							ENST00000409150	protein_coding	getma.org/?cm=var&var=hg19,2,191379246,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13598,hmmpanther:PTHR13598:SF3,Pfam_domain:PF10225		A/S		A	low	953/6168		getma.org/?cm=msa&ty=f&p=T194B_HUMAN&rb=141&re=391&var=A296S	deleterious(0)	C9J4F2_HUMAN			YES	TMEM194B,missense_variant,p.Ala296Ser,ENST00000409150,NM_001142645.1;TMEM194B,downstream_gene_variant,,ENST00000421038,;TMEM194B,downstream_gene_variant,,ENST00000492292,;TMEM194B,3_prime_UTR_variant,,ENST00000414176,;TMEM194B,3_prime_UTR_variant,,ENST00000444545,;TMEM194B,downstream_gene_variant,,ENST00000343105,;							MODERATE	886/1254	A296S	T194B_HUMAN			Transcript		benign(0.253)	.	ENSP00000386292		CCDS46476.1			1	
SEC24C	0	LGGM	GRCh37	10	75526153	75526153	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	20	3	.	.	ENST00000339365.2:c.1653C>A	p.Thr551=	p.T551=	ENST00000339365	NM_004922.3	551	acC/acA	0	1	1	UPI000013F621	0		ENST00000339365		ENSG00000176986	10705		23			HGNC	p.P249H		SEC24C		SNV							ENST00000546025	protein_coding			Gene3D:3.40.50.410,Pfam_domain:PF04811,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF5,Superfamily_domains:SSF53300		T		A		1815/4513				B4DZT4_HUMAN			YES	SEC24C,missense_variant,p.Pro249His,ENST00000546025,;SEC24C,synonymous_variant,p.=,ENST00000339365,NM_004922.3;SEC24C,synonymous_variant,p.=,ENST00000345254,NM_198597.2;SEC24C,synonymous_variant,p.=,ENST00000411652,;SEC24C,intron_variant,,ENST00000540668,;SEC24C,intron_variant,,ENST00000535742,;SEC24C,upstream_gene_variant,,ENST00000496827,;SEC24C,synonymous_variant,p.=,ENST00000465076,;							LOW	1653/3285		SC24C_HUMAN			Transcript			.	ENSP00000343405		CCDS7332.1			1	
SWI5	0	LGGM	GRCh37	9	131046800	131046800	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	43	3	.	.	ENST00000320188.5:c.438C>A	p.Pro146=	p.P146=	ENST00000320188	NM_001040011.1	146	ccC/ccA	0	1	1	UPI00001D76F5	0		ENST00000320188		ENSG00000175854	31412		46			HGNC	p.P146P		SWI5		SNV							ENST00000320188	protein_coding					P		A		438/980							YES	SWI5,synonymous_variant,p.=,ENST00000419867,;SWI5,synonymous_variant,p.=,ENST00000320188,NM_001040011.1;SWI5,synonymous_variant,p.=,ENST00000608796,;SWI5,synonymous_variant,p.=,ENST00000418976,;SWI5,synonymous_variant,p.=,ENST00000372898,;SWI5,synonymous_variant,p.=,ENST00000495313,;							LOW	438/708		SWI5_HUMAN			Transcript			.	ENSP00000316609		CCDS43883.1			1	
RALGAPB	0	LGGM	GRCh37	20	37128228	37128228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	3	.	.	ENST00000262879.6:c.692C>A	p.Pro231Gln	p.P231Q	ENST00000262879		231	cCa/cAa	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		42	1.39		HGNC	p.P59Q		RALGAPB		SNV							ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37128228,C,A&fts=all		hmmpanther:PTHR21344		P/Q		A	low	976/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=201&re=400&var=P231Q	tolerated(0.51)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Pro231Gln,ENST00000262879,;RALGAPB,missense_variant,p.Pro231Gln,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Pro9Gln,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Pro231Gln,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Pro59Gln,ENST00000438490,;RALGAPB,missense_variant,p.Pro231Gln,ENST00000537204,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000495949,;							MODERATE	692/4485	P231Q	RLGPB_HUMAN			Transcript		possibly_damaging(0.61)	.	ENSP00000262879		CCDS13305.1			1	
ZNF597	0	LGGM	GRCh37	16	3493139	3493139	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	11	3	.	.	ENST00000301744.4:c.15C>A	p.Pro5=	p.P5=	ENST00000301744	NM_152457.1	5	ccC/ccA	0	1	1	UPI0000070B73	0		ENST00000301744		ENSG00000167981	26573		14			HGNC	p.P5P		ZNF597		SNV							ENST00000301744	protein_coding			hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF50		P		T		251/1831							YES	ZNF597,synonymous_variant,p.=,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,;							LOW	15/1275		ZN597_HUMAN			Transcript			.	ENSP00000301744		CCDS10505.1			1	
KRTAP4-8	0	LGGM	GRCh37	17	39253806	39253806	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	3	.	.	ENST00000333822.4:c.531C>A	p.Pro177=	p.P177=	ENST00000333822	NM_031960.2	177	ccC/ccA	0	1	1	UPI0000366BFD	0		ENST00000333822		ENSG00000204880	17230		42			HGNC	p.P177P	rs765969753	KRTAP4-8		SNV							ENST00000333822	protein_coding			hmmpanther:PTHR23262		P		T		588/1161							YES	KRTAP4-8,synonymous_variant,p.=,ENST00000333822,NM_031960.2;KRTAP4-16P,downstream_gene_variant,,ENST00000440582,;							LOW	531/558		KRA48_HUMAN			Transcript			.	ENSP00000328444	8.62E-06	CCDS45674.1			1	
FOXJ3	0	LGGM	GRCh37	1	42693586	42693586	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	3	.	.	ENST00000372572.1:c.496C>A	p.Arg166=	p.R166=	ENST00000372572	NM_001198851.1	166	Cgg/Agg	0	1		UPI000013D359	0		ENST00000361346		ENSG00000198815	29178		42			HGNC	p.R166R		FOXJ3		SNV							ENST00000372572	protein_coding			PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829,SMART_domains:SM00339,Superfamily_domains:SSF46785		R		T		687/5225				F6VXT0_HUMAN,C9JXI1_HUMAN				FOXJ3,synonymous_variant,p.=,ENST00000372572,NM_001198851.1;FOXJ3,synonymous_variant,p.=,ENST00000372573,NM_001198850.1;FOXJ3,synonymous_variant,p.=,ENST00000361346,NM_014947.4;FOXJ3,synonymous_variant,p.=,ENST00000545068,;FOXJ3,synonymous_variant,p.=,ENST00000361776,NM_001198852.1;FOXJ3,synonymous_variant,p.=,ENST00000445886,;							LOW	496/1869		FOXJ3_HUMAN			Transcript			.	ENSP00000354620		CCDS30689.1			1	
EPYC	0	LGGM	GRCh37	12	91365652	91365652	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	3	.	.	ENST00000261172.3:c.627G>T	p.Leu209Phe	p.L209F	ENST00000261172	NM_004950.4	209	ttG/ttT	0	1	1	UPI000013D136	0	NA	ENST00000261172		ENSG00000083782	3053		42	2.025		HGNC	p.L209F		EPYC		SNV							ENST00000261172	protein_coding	getma.org/?cm=var&var=hg19,12,91365652,C,A&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF4,SMART_domains:SM00369,Superfamily_domains:SSF52058		L/F		A	medium	720/1539		getma.org/?cm=msa&ty=f&p=EPYC_HUMAN&rb=174&re=240&var=L209F	deleterious(0.02)	F8VSI4_HUMAN			YES	EPYC,missense_variant,p.Leu209Phe,ENST00000261172,NM_004950.4;EPYC,missense_variant,p.Leu209Phe,ENST00000551767,;EPYC,downstream_gene_variant,,ENST00000550203,;							MODERATE	627/969	L209F	EPYC_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000261172		CCDS31870.1			1	
HYDIN	0	LGGM	GRCh37	16	70908741	70908741	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	10	3	.	.	ENST00000393567.2:c.10639G>T	p.Glu3547Ter	p.E3547*	ENST00000393567	NM_001270974.1	3547	Gaa/Taa	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		13	0		HGNC	p.E3547X		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70908741,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		E/*		A	NA	10790/15719		NA		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,stop_gained,p.Glu3547Ter,ENST00000393567,NM_001270974.1;AC027281.1,upstream_gene_variant,,ENST00000411384,;							HIGH	10639/15366	E3547*	HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
COL7A1	0	LGGM	GRCh37	3	48621048	48621048	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	14	3	.	.	ENST00000328333.8:c.4342G>T	p.Gly1448Cys	p.G1448C	ENST00000328333	NM_000094.3	1448	Ggt/Tgt	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		17	3.525		HGNC	p.G1448C		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48621048,C,A&fts=all		hmmpanther:PTHR24023,Low_complexity_(Seg):seg		G/C		A	high	4450/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=1362&re=1448&var=G1448C					YES	COL7A1,missense_variant,p.Gly1448Cys,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Gly1448Cys,ENST00000454817,;MIR711,upstream_gene_variant,,ENST00000390201,;COL7A1,splice_region_variant,,ENST00000487017,;							MODERATE	4342/8835	G1448C	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
SLC44A5	0	LGGM	GRCh37	1	75681532	75681532	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	3	.	.	ENST00000370855.5:c.1635C>A	p.Asn545Lys	p.N545K	ENST00000370855	NM_152697.4	545	aaC/aaA	0	1	1	UPI000013E195	0	NA	ENST00000370855		ENSG00000137968	28524		42	3.04		HGNC	p.N545K		SLC44A5		SNV							ENST00000370855	protein_coding	getma.org/?cm=var&var=hg19,1,75681532,G,T&fts=all		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42		N/K		T	medium	1749/4406		getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=327&re=691&var=N545K	deleterious(0)	B7Z473_HUMAN			YES	SLC44A5,missense_variant,p.Asn545Lys,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Asn545Lys,ENST00000370859,NM_001130058.1;SLC44A5,missense_variant,p.Asn415Lys,ENST00000535611,;							MODERATE	1635/2160	N545K	CTL5_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000359892		CCDS667.1			1	
CACNA1C	0	LGGM	GRCh37	12	2800140	2800140	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	22	3	.	.	ENST00000347598.4:c.6336C>A	p.Ala2112=	p.A2112=	ENST00000347598	NM_199460.2	2112	gcC/gcA	0	1	1	UPI0000E593E5	0		ENST00000347598		ENSG00000151067	1390		25			HGNC	p.A2081A		CACNA1C		SNV			1				ENST00000399629	protein_coding					A		A		6336/6655				Q86XX0_HUMAN,O95234_HUMAN			YES	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.=,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.=,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.=,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;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000501371,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000544517,;CACNA1C-AS1,non_coding_transcript_exon_variant,,ENST00000541673,;							LOW	6336/6561		CAC1C_HUMAN			Transcript			.	ENSP00000266376		CCDS44788.1			1	
PHOX2B	0	LGGM	GRCh37	4	41750570	41750570	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	18	3	.	.	ENST00000226382.2:c.58G>T	p.Gly20Trp	p.G20W	ENST00000226382	NM_003924.3	20	Ggg/Tgg	0	1	1	UPI000000D936	0	NA	ENST00000226382		ENSG00000109132	9143		21	0.695		HGNC	p.G20W		PHOX2B		SNV			1				ENST00000226382	protein_coding	getma.org/?cm=var&var=hg19,4,41750570,C,A&fts=all				G/W		A	neutral	418/3030		getma.org/?cm=msa&ty=f&p=PHX2B_HUMAN&rb=1&re=98&var=G20W	deleterious(0)				YES	PHOX2B,missense_variant,p.Gly20Trp,ENST00000226382,NM_003924.3;PHOX2B,upstream_gene_variant,,ENST00000510424,;RP11-227F19.2,upstream_gene_variant,,ENST00000510602,;RP11-227F19.1,non_coding_transcript_exon_variant,,ENST00000508038,;							MODERATE	58/945	G20W	PHX2B_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000226382		CCDS3463.1			1	
KIFC3	0	LGGM	GRCh37	16	57803565	57803565	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	27	3	.	.	ENST00000379655.4:c.1160G>T	p.Arg387Leu	p.R387L	ENST00000379655	NM_005550.3	387	cGg/cTg	0	1	1	UPI000059D399	0	NA	ENST00000379655		ENSG00000140859	6326		30	1.905		HGNC	p.R387L		KIFC3		SNV							ENST00000445690	protein_coding	getma.org/?cm=var&var=hg19,16,57803565,C,A&fts=all				R/L		A	medium	1418/3427		getma.org/?cm=msa&ty=f&p=KIFC3_HUMAN&rb=361&re=450&var=R387L	deleterious(0.01)	H3BTU1_HUMAN,H3BTN1_HUMAN,H3BTL6_HUMAN,H3BPE2_HUMAN,H3BNZ0_HUMAN,H3BMR0_HUMAN,H3BMJ1_HUMAN			YES	KIFC3,missense_variant,p.Arg387Leu,ENST00000379655,NM_005550.3;KIFC3,missense_variant,p.Arg387Leu,ENST00000445690,NM_001130100.1;KIFC3,missense_variant,p.Arg248Leu,ENST00000465878,;KIFC3,missense_variant,p.Arg248Leu,ENST00000562903,;KIFC3,missense_variant,p.Arg248Leu,ENST00000421376,NM_001130099.1;KIFC3,missense_variant,p.Arg409Leu,ENST00000541240,;KIFC3,missense_variant,p.Arg248Leu,ENST00000543930,;KIFC3,missense_variant,p.Arg285Leu,ENST00000540079,;KIFC3,missense_variant,p.Arg329Leu,ENST00000539578,;KIFC3,downstream_gene_variant,,ENST00000565481,;KIFC3,downstream_gene_variant,,ENST00000562311,;KIFC3,downstream_gene_variant,,ENST00000562503,;KIFC3,downstream_gene_variant,,ENST00000569619,;KIFC3,downstream_gene_variant,,ENST00000566648,;KIFC3,downstream_gene_variant,,ENST00000565684,;KIFC3,downstream_gene_variant,,ENST00000561524,;KIFC3,downstream_gene_variant,,ENST00000569112,;KIFC3,downstream_gene_variant,,ENST00000562984,;KIFC3,downstream_gene_variant,,ENST00000569222,;KIFC3,downstream_gene_variant,,ENST00000565351,;KIFC3,downstream_gene_variant,,ENST00000566975,;KIFC3,upstream_gene_variant,,ENST00000563266,;KIFC3,downstream_gene_variant,,ENST00000567204,;KIFC3,missense_variant,p.Arg248Leu,ENST00000564136,;KIFC3,downstream_gene_variant,,ENST00000564204,;							MODERATE	1160/2502	R387L	KIFC3_HUMAN			Transcript		possibly_damaging(0.644)	.	ENSP00000368976		CCDS10789.2			1	
CR2	0	LGGM	GRCh37	1	207641882	207641882	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	38	3	.	.	ENST00000367057.3:c.456C>A	p.Leu152=	p.L152=	ENST00000367057	NM_001006658.2	152	ctC/ctA	0	1		UPI000013D4F7	0		ENST00000367058		ENSG00000117322	2336		41			HGNC	p.L152L		CR2		SNV			1				ENST00000367057	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF330,hmmpanther:PTHR19325		L		A		645/4063								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,non_coding_transcript_exon_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000475194,;							LOW	456/3102		CR2_HUMAN			Transcript			.	ENSP00000356025		CCDS1478.1			1	
DDX59	0	LGGM	GRCh37	1	200619624	200619624	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	47	3	.	.	ENST00000331314.6:c.1243G>T	p.Ala415Ser	p.A415S	ENST00000331314	NM_001031725.4	415	Gcc/Tcc	0	1	1	UPI00001AFE4C	0	getma.org/pdb.php?prot=DDX59_HUMAN&from=395&to=464&var=A415S	ENST00000331314		ENSG00000118197	25360		50	-0.145		HGNC	p.A415S		DDX59		SNV			1				ENST00000331314	protein_coding	getma.org/?cm=var&var=hg19,1,200619624,C,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF42,SMART_domains:SM00487,Superfamily_domains:SSF52540		A/S		A	neutral	1457/2289		getma.org/?cm=msa&ty=f&p=DDX59_HUMAN&rb=395&re=464&var=A415S	tolerated(0.93)	Q5T1V5_HUMAN,B7ZBU4_HUMAN,B7ZBU3_HUMAN			YES	DDX59,missense_variant,p.Ala415Ser,ENST00000447706,;DDX59,missense_variant,p.Ala415Ser,ENST00000331314,NM_001031725.4;DDX59,missense_variant,p.Ala415Ser,ENST00000367348,;DDX59,missense_variant,p.Ala53Ser,ENST00000413408,;DDX59,missense_variant,p.Ala58Ser,ENST00000433235,;DDX59,missense_variant,p.Ala58Ser,ENST00000453944,;DDX59,intron_variant,,ENST00000429498,;DDX59,upstream_gene_variant,,ENST00000452560,;							MODERATE	1243/1860	A415S	DDX59_HUMAN			Transcript		benign(0.001)	.	ENSP00000330460		CCDS30964.1			1	
TMEM132B	0	LGGM	GRCh37	12	126128809	126128809	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	25	3	.	.	ENST00000299308.3:c.1610C>A	p.Pro537Gln	p.P537Q	ENST00000299308	NM_052907.2	537	cCg/cAg	0	1	1	UPI00006BFF58	0	NA	ENST00000299308		ENSG00000139364	29397		28	2.505		HGNC	p.P49Q	COSM3457919	TMEM132B		SNV						1	ENST00000535886	protein_coding	getma.org/?cm=var&var=hg19,12,126128809,C,A&fts=all		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5		P/Q		A	medium	1618/10906		getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=P537Q	deleterious(0)				YES	TMEM132B,missense_variant,p.Pro537Gln,ENST00000299308,NM_052907.2;TMEM132B,missense_variant,p.Pro49Gln,ENST00000535886,NM_001286219.1;					1		MODERATE	1610/3237	P537Q	T132B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000299308		CCDS41859.1			1	
LRRC8A	0	LGGM	GRCh37	9	131669476	131669476	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	37	3	.	.	ENST00000259324.5:c.33G>T	p.Ala11=	p.A11=	ENST00000259324	NM_001127244.1	11	gcG/gcT	0	1	1	UPI000004EF9E	0		ENST00000259324		ENSG00000136802	19027		40			HGNC	p.A11A		LRRC8A		SNV			1				ENST00000372600	protein_coding			Pfam_domain:PF12534		A		T		556/4619				Q96SW8_HUMAN			YES	LRRC8A,synonymous_variant,p.=,ENST00000259324,NM_001127244.1;LRRC8A,synonymous_variant,p.=,ENST00000372600,NM_019594.3;LRRC8A,synonymous_variant,p.=,ENST00000372599,NM_001127245.1;							LOW	33/2433		LRC8A_HUMAN			Transcript			.	ENSP00000259324		CCDS35155.1			1	
SLC32A1	0	LGGM	GRCh37	20	37356839	37356839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	29	3	.	.	ENST00000217420.1:c.1135C>A	p.Arg379Ser	p.R379S	ENST00000217420	NM_080552.2	379	Cgc/Agc	0	1	1	UPI0000043423	0	NA	ENST00000217420		ENSG00000101438	11018		32	1.91		HGNC	p.R379S		SLC32A1		SNV							ENST00000217420	protein_coding	getma.org/?cm=var&var=hg19,20,37356839,C,A&fts=all		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF221		R/S		A	medium	1398/2574		getma.org/?cm=msa&ty=f&p=VIAAT_HUMAN&rb=114&re=513&var=R379S	deleterious(0)				YES	SLC32A1,missense_variant,p.Arg379Ser,ENST00000217420,NM_080552.2;							MODERATE	1135/1578	R379S	VIAAT_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000217420		CCDS13307.1			1	
CAMTA2	0	LGGM	GRCh37	17	4876503	4876503	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	28	3	.	.	ENST00000414043.3:c.2316G>T	p.Pro772=	p.P772=	ENST00000414043	NM_001171167.1	772	ccG/ccT	0	1		UPI000018DB71	0		ENST00000348066		ENSG00000108509	18807		31			HGNC	p.P749P		CAMTA2		SNV							ENST00000348066	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR23335:SF4,hmmpanther:PTHR23335,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		P		A		2371/4491				Q8N5H1_HUMAN				CAMTA2,synonymous_variant,p.=,ENST00000361571,NM_001171168.1;CAMTA2,synonymous_variant,p.=,ENST00000414043,NM_001171167.1;CAMTA2,synonymous_variant,p.=,ENST00000572543,;CAMTA2,synonymous_variant,p.=,ENST00000348066,NM_015099.3;CAMTA2,synonymous_variant,p.=,ENST00000358183,;CAMTA2,synonymous_variant,p.=,ENST00000381311,NM_001171166.1;RP5-1050D4.2,intron_variant,,ENST00000430920,;RP5-1050D4.3,downstream_gene_variant,,ENST00000576752,;CAMTA2,non_coding_transcript_exon_variant,,ENST00000572326,;CAMTA2,downstream_gene_variant,,ENST00000575365,;CAMTA2,3_prime_UTR_variant,,ENST00000574951,;CAMTA2,upstream_gene_variant,,ENST00000576872,;CAMTA2,upstream_gene_variant,,ENST00000572192,;CAMTA2,upstream_gene_variant,,ENST00000574442,;CAMTA2,downstream_gene_variant,,ENST00000575192,;							LOW	2247/3609		CMTA2_HUMAN			Transcript			.	ENSP00000321813		CCDS11063.1			1	
LSM12	0	LGGM	GRCh37	17	42114842	42114842	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	38	3	.	.	ENST00000591247.1:c.433C>A	p.Pro145Thr	p.P145T	ENST00000591247	NM_152344.3	145	Cca/Aca	0	1		UPI0000021A76	0	NA	ENST00000293406		ENSG00000161654	26407		41	3.035		HGNC	p.P145T		LSM12		SNV							ENST00000585388	protein_coding	getma.org/?cm=var&var=hg19,17,42114842,G,T&fts=all		Pfam_domain:PF09793,hmmpanther:PTHR13542,SMART_domains:SM00995		P/T		T	medium	581/2308		getma.org/?cm=msa&ty=f&p=LSM12_HUMAN&rb=78&re=165&var=P145T	deleterious(0)					LSM12,missense_variant,p.Pro145Thr,ENST00000591247,NM_152344.3;LSM12,missense_variant,p.Pro145Thr,ENST00000293406,;LSM12,missense_variant,p.Pro145Thr,ENST00000585388,;LSM12,non_coding_transcript_exon_variant,,ENST00000590563,;							MODERATE	433/588	P145T	LSM12_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000293406		CCDS11475.1			1	
GRIK4	0	LGGM	GRCh37	11	120827592	120827592	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	31	3	.	.	ENST00000527524.2:c.1804G>T	p.Gly602Trp	p.G602W	ENST00000527524	NM_001282470.1	602	Ggg/Tgg	0	1		UPI000013DB8D	0	getma.org/pdb.php?prot=GRIK4_HUMAN&from=544&to=816&var=G602W	ENST00000438375		ENSG00000149403	4582		34	2.515		HGNC	p.G602W	rs781555240	GRIK4		SNV							ENST00000527524	protein_coding	getma.org/?cm=var&var=hg19,11,120827592,G,T&fts=all		Transmembrane_helices:TMhelix,SMART_domains:SM00079,Pfam_domain:PF00060,Gene3D:1.10.287.70,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966		G/W		T	medium	2146/4214	1.51E-05	getma.org/?cm=msa&ty=f&p=GRIK4_HUMAN&rb=544&re=816&var=G602W	deleterious(0)					GRIK4,missense_variant,p.Gly602Trp,ENST00000527524,NM_001282470.1;GRIK4,missense_variant,p.Gly602Trp,ENST00000438375,NM_014619.2;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;							MODERATE	1804/2871	G602W	GRIK4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000404063	1.65E-05	CCDS8433.1			1	
SAR1B	0	LGGM	GRCh37	5	133956725	133956725	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	46	3	.	.	ENST00000402673.2:c.76G>T	p.Gly26Cys	p.G26C	ENST00000402673	NM_016103.3	26	Ggt/Tgt	0	1	1	UPI0000135569	0	getma.org/pdb.php?prot=SAR1B_HUMAN&from=12&to=197&var=G26C	ENST00000402673		ENSG00000152700	10535		49	2.595		HGNC	p.G26C		SAR1B		SNV			1				ENST00000503318	protein_coding	getma.org/?cm=var&var=hg19,5,133956725,C,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00177,SMART_domains:SM00178,Gene3D:3.40.50.300,Pfam_domain:PF00025,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR11711:SF107,hmmpanther:PTHR11711,PROSITE_profiles:PS51422		G/C		A	medium	355/6682		getma.org/?cm=msa&ty=f&p=SAR1B_HUMAN&rb=12&re=197&var=G26C	deleterious(0)	Q9H029_HUMAN,D6RD69_HUMAN,D6RAA2_HUMAN,D6R9R5_HUMAN			YES	SAR1B,missense_variant,p.Gly26Cys,ENST00000402673,NM_016103.3;SAR1B,missense_variant,p.Gly26Cys,ENST00000439578,NM_001033503.2;SAR1B,missense_variant,p.Gly26Cys,ENST00000505758,;SAR1B,missense_variant,p.Gly26Cys,ENST00000502286,;SAR1B,intron_variant,,ENST00000507419,;SAR1B,missense_variant,p.Gly26Cys,ENST00000503318,;							MODERATE	76/597	G26C	SAR1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000385432		CCDS4177.1			1	
ART5	0	LGGM	GRCh37	11	3661311	3661311	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	40	3	.	.	ENST00000397068.3:c.348G>T	p.Thr116=	p.T116=	ENST00000397068	NM_053017.3	116	acG/acT	0	1		UPI000013E694	0		ENST00000359918		ENSG00000167311	24049		43			HGNC	p.T116T		ART5		SNV							ENST00000397067	protein_coding			hmmpanther:PTHR10339,hmmpanther:PTHR10339:SF2,Pfam_domain:PF01129,Gene3D:3.90.176.10,Superfamily_domains:SSF56399		T		A		489/1241								ART5,synonymous_variant,p.=,ENST00000397068,NM_053017.3;ART5,synonymous_variant,p.=,ENST00000359918,NM_001079536.1;ART5,synonymous_variant,p.=,ENST00000397067,;ART5,synonymous_variant,p.=,ENST00000453353,;ART5,intron_variant,,ENST00000425767,;TRPC2,downstream_gene_variant,,ENST00000526541,;TRPC2,downstream_gene_variant,,ENST00000451043,;							LOW	348/876		NAR5_HUMAN			Transcript			.	ENSP00000352992		CCDS7743.1			1	
RUVBL1	0	LGGM	GRCh37	3	127819483	127819483	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093609	H093609N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	29	3	.	.	ENST00000322623.5:c.708A>G	p.Gln236=	p.Q236=	ENST00000322623	NM_003707.2	236	caA/caG	0	1	1	UPI0000044739	0		ENST00000322623		ENSG00000175792	10474		32			HGNC	p.Q35Q		RUVBL1		SNV							ENST00000478892	protein_coding			Pfam_domain:PF06068,hmmpanther:PTHR11093,SMART_domains:SM00382,Superfamily_domains:SSF52540		Q		C		808/1761				J3QLR1_HUMAN			YES	RUVBL1,synonymous_variant,p.=,ENST00000464873,;RUVBL1,synonymous_variant,p.=,ENST00000322623,NM_003707.2;RUVBL1,synonymous_variant,p.=,ENST00000417360,;RUVBL1,synonymous_variant,p.=,ENST00000472125,;RUVBL1,synonymous_variant,p.=,ENST00000478892,;RUVBL1,upstream_gene_variant,,ENST00000585057,;							LOW	708/1371		RUVB1_HUMAN			Transcript			.	ENSP00000318297		CCDS3047.1			1	
OAZ1	0	LGGM	GRCh37	19	2269613	2269613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	11	3	.	.	ENST00000602676.2:c.16C>A	p.Leu6Met	p.L6M	ENST00000602676	NM_004152.2	6	Ctg/Atg	0	1	1	UPI0000161BAA	0	NA	ENST00000602676		ENSG00000104904	8095		14	2.095		HGNC	p.L6M		OAZ1		SNV							ENST00000590943	protein_coding	getma.org/?cm=var&var=hg19,19,2269613,C,A&fts=all		hmmpanther:PTHR10279,hmmpanther:PTHR10279:SF8		L/M		A	medium	95/1146		getma.org/?cm=msa&ty=f&p=OAZ1_HUMAN&rb=1&re=108&var=L6M	deleterious(0.01)	Q2M222_HUMAN			YES	OAZ1,missense_variant,p.Leu6Met,ENST00000583542,;OAZ1,missense_variant,p.Leu6Met,ENST00000602676,NM_004152.2;OAZ1,missense_variant,p.Leu6Met,ENST00000322297,;OAZ1,missense_variant,p.Leu6Met,ENST00000582888,;JSRP1,missense_variant,p.Arg29Met,ENST00000593238,;OAZ1,upstream_gene_variant,,ENST00000588673,;JSRP1,upstream_gene_variant,,ENST00000590976,;OAZ1,missense_variant,p.Leu6Met,ENST00000590943,;OAZ1,non_coding_transcript_exon_variant,,ENST00000593012,;OAZ1,non_coding_transcript_exon_variant,,ENST00000581150,;OAZ1,non_coding_transcript_exon_variant,,ENST00000592787,;OAZ1,upstream_gene_variant,,ENST00000586054,;OAZ1,upstream_gene_variant,,ENST00000592727,;OAZ1,upstream_gene_variant,,ENST00000589361,;OAZ1,upstream_gene_variant,,ENST00000589739,;							MODERATE	16/687	L6M	OAZ1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000473381		CCDS58639.1			1	
LATS2	0	LGGM	GRCh37	13	21620052	21620052	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	30	3	.	.	ENST00000382592.4:c.114C>A	p.Pro38=	p.P38=	ENST00000382592	NM_014572.2	38	ccC/ccA	0	1	1	UPI000013DBF5	0		ENST00000382592		ENSG00000150457	6515		33			HGNC	p.P38P		LATS2		SNV							ENST00000542899	protein_coding			hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF149		P		T		520/5511							YES	LATS2,synonymous_variant,p.=,ENST00000382592,NM_014572.2;LATS2,synonymous_variant,p.=,ENST00000542899,;							LOW	114/3267		LATS2_HUMAN			Transcript			.	ENSP00000372035		CCDS9294.1			1	
TNFAIP3	0	LGGM	GRCh37	6	138200309	138200309	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	36	3	.	.	ENST00000237289.4:c.1727C>T	p.Pro576Leu	p.P576L	ENST00000237289	NM_001270507.1	576	cCg/cTg	0	1	1	UPI000000D92D	0	NA	ENST00000237289		ENSG00000118503	11896		39	1.5		HGNC	p.P576L	rs773410176	TNFAIP3	6.06E-05	SNV							ENST00000237289	protein_coding	getma.org/?cm=var&var=hg19,6,138200309,C,T&fts=all		hmmpanther:PTHR13367,hmmpanther:PTHR13367:SF3		P/L		T	low	1793/4432		getma.org/?cm=msa&ty=f&p=TNAP3_HUMAN&rb=501&re=603&var=P576L	tolerated(0.05)	Q5VXR0_HUMAN,Q5VXQ9_HUMAN,Q5VXQ8_HUMAN,Q5PY18_HUMAN,D3TTZ5_HUMAN,D3TTZ0_HUMAN,D3TTY6_HUMAN			YES	TNFAIP3,missense_variant,p.Pro576Leu,ENST00000237289,NM_001270507.1,NM_001270508.1,NM_006290.3;TNFAIP3,downstream_gene_variant,,ENST00000420009,;TNFAIP3,downstream_gene_variant,,ENST00000485192,;							MODERATE	1727/2373	P576L	TNAP3_HUMAN			Transcript		benign(0.202)	.	ENSP00000237289	8.24E-06	CCDS5187.1			1	
MYO7A	0	LGGM	GRCh37	11	76870547	76870547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	20	3	.	.	ENST00000409709.3:c.1058C>A	p.Ala353Asp	p.A353D	ENST00000409709	NM_000260.3	353	gCc/gAc	0	1	1	UPI00001FAFE6	0	getma.org/pdb.php?prot=MYO7A_HUMAN&from=67&to=729&var=A353D	ENST00000409709		ENSG00000137474	7606		23	0.29		HGNC	p.A353D		MYO7A		SNV			1				ENST00000409709	protein_coding	getma.org/?cm=var&var=hg19,11,76870547,C,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF258,SMART_domains:SM00242,Superfamily_domains:SSF52540		A/D		A	neutral	1330/7462		getma.org/?cm=msa&ty=f&p=MYO7A_HUMAN&rb=67&re=729&var=A353D	tolerated(0.4)				YES	MYO7A,missense_variant,p.Ala353Asp,ENST00000409709,NM_000260.3;MYO7A,missense_variant,p.Ala353Asp,ENST00000458637,NM_001127180.1;MYO7A,missense_variant,p.Ala342Asp,ENST00000409619,;MYO7A,missense_variant,p.Ala353Asp,ENST00000409893,NM_001127179.2;							MODERATE	1058/6648	A353D	MYO7A_HUMAN			Transcript		benign(0.011)	.	ENSP00000386331		CCDS53683.1			1	
ACTN4	0	LGGM	GRCh37	19	39205159	39205159	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	27	3	.	.	ENST00000252699.2:c.870G>A	p.Glu290=	p.E290=	ENST00000252699	NM_004924.4	290	gaG/gaA	0	1	1	UPI0000125093	0		ENST00000252699		ENSG00000130402	166		30			HGNC	p.E71E		ACTN4		SNV			1				ENST00000390009	protein_coding			Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,Superfamily_domains:SSF46966		E		A		946/4963				Q96BG6_HUMAN			YES	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,;							LOW	870/2736		ACTN4_HUMAN			Transcript			.	ENSP00000252699		CCDS12518.1			1	
CYP1A2	0	LGGM	GRCh37	15	75047385	75047385	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	10	3	.	.	ENST00000343932.4:c.1507C>A	p.Arg503Ser	p.R503S	ENST00000343932	NM_000761.3	503	Cgc/Agc	0	1	1	UPI0000073775	0	getma.org/pdb.php?prot=CP1A2_HUMAN&from=42&to=505&var=R503S	ENST00000343932		ENSG00000140505	2596		13	0.695		HGNC	p.R503S		CYP1A2		SNV			1				ENST00000343932	protein_coding	getma.org/?cm=var&var=hg19,15,75047385,C,A&fts=all		Gene3D:1.10.630.10,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF7,Superfamily_domains:SSF48264		R/S		A	neutral	1570/2728		getma.org/?cm=msa&ty=f&p=CP1A2_HUMAN&rb=42&re=505&var=R503S	deleterious(0.02)				YES	CYP1A2,missense_variant,p.Arg503Ser,ENST00000343932,NM_000761.3;							MODERATE	1507/1551	R503S	CP1A2_HUMAN			Transcript		benign(0.022)	.	ENSP00000342007		CCDS32293.1			1	
PKD2L1	0	LGGM	GRCh37	10	102059360	102059360	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	37	3	.	.	ENST00000318222.3:c.465G>T	p.Ala155=	p.A155=	ENST00000318222	NM_016112.2	155	gcG/gcT	0	1	1	UPI0000130FED	0		ENST00000318222		ENSG00000107593	9011		40			HGNC	p.A155A		PKD2L1		SNV							ENST00000338519	protein_coding			Pfam_domain:PF08016,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF105		A		A		848/3043							YES	PKD2L1,synonymous_variant,p.=,ENST00000318222,NM_016112.2,NM_001253837.1;PKD2L1,synonymous_variant,p.=,ENST00000353274,;PKD2L1,synonymous_variant,p.=,ENST00000338519,;PKD2L1,intron_variant,,ENST00000465680,;PKD2L1,3_prime_UTR_variant,,ENST00000528248,;PKD2L1,downstream_gene_variant,,ENST00000532547,;							LOW	465/2418		PK2L1_HUMAN			Transcript			.	ENSP00000325296		CCDS7492.1			1	
KLHDC4	0	LGGM	GRCh37	16	87743083	87743083	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	8	3	.	.	ENST00000270583.5:c.1235G>T	p.Arg412Leu	p.R412L	ENST00000270583	NM_017566.3	412	cGg/cTg	0	1	1	UPI00000705D4	0	NA	ENST00000270583		ENSG00000104731	25272		11	0		HGNC	p.R381L		KLHDC4		SNV							ENST00000347925	protein_coding	getma.org/?cm=var&var=hg19,16,87743083,C,A&fts=all		hmmpanther:PTHR23244:SF283,hmmpanther:PTHR23244		R/L		A	neutral	1294/1886		getma.org/?cm=msa&ty=f&p=KLDC4_HUMAN&rb=350&re=520&var=R412L	tolerated(0.3)				YES	KLHDC4,missense_variant,p.Arg412Leu,ENST00000270583,NM_017566.3;KLHDC4,missense_variant,p.Arg381Leu,ENST00000347925,NM_001184856.1;KLHDC4,missense_variant,p.Arg355Leu,ENST00000353170,NM_001184854.1;KLHDC4,missense_variant,p.Arg322Leu,ENST00000562261,;FLJ00104,upstream_gene_variant,,ENST00000446344,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000566349,;KLHDC4,intron_variant,,ENST00000316853,;KLHDC4,downstream_gene_variant,,ENST00000567513,;KLHDC4,upstream_gene_variant,,ENST00000568499,;KLHDC4,missense_variant,p.Arg412Leu,ENST00000567298,;KLHDC4,3_prime_UTR_variant,,ENST00000562155,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000566661,;KLHDC4,non_coding_transcript_exon_variant,,ENST00000569487,;KLHDC4,downstream_gene_variant,,ENST00000562913,;							MODERATE	1235/1563	R412L	KLDC4_HUMAN			Transcript		benign(0.002)	.	ENSP00000270583		CCDS10963.1			1	
SACS	0	LGGM	GRCh37	13	23906876	23906876	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	50	4	.	.	ENST00000382298.3:c.11139C>A	p.Pro3713=	p.P3713=	ENST00000382298	NM_014363.5	3713	ccC/ccA	0	1		UPI000047039D	0		ENST00000382292		ENSG00000151835	10519		54			HGNC	p.P2963P		SACS		SNV			1				ENST00000402364	protein_coding			hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		P		T		11413/15324								SACS,synonymous_variant,p.=,ENST00000382298,NM_014363.5;SACS,synonymous_variant,p.=,ENST00000382292,;SACS,synonymous_variant,p.=,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							LOW	11139/13740		SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
CCDC148	0	LGGM	GRCh37	2	159077170	159077170	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093609	H093609N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	36	4	.	.	ENST00000283233.5:c.1307A>G	p.Asp436Gly	p.D436G	ENST00000283233	NM_138803.3	436	gAt/gGt	0	1	1	UPI0000208F63	0	NA	ENST00000283233		ENSG00000153237	25191		40	0.975		HGNC	p.D436G	rs377017642	CCDC148		SNV	C:0			0.000199			ENST00000283233	protein_coding	getma.org/?cm=var&var=hg19,2,159077170,T,C&fts=all		hmmpanther:PTHR21549:SF1,hmmpanther:PTHR21549		D/G	C:0.0001	C	low	1621/3122	7.92E-05	getma.org/?cm=msa&ty=f&p=CC148_HUMAN&rb=384&re=442&var=D436G	deleterious(0)				YES	CCDC148,missense_variant,p.Asp436Gly,ENST00000283233,NM_138803.3;CCDC148,missense_variant,p.Asp445Gly,ENST00000409187,;CCDC148-AS1,intron_variant,,ENST00000412781,;CCDC148,3_prime_UTR_variant,,ENST00000454257,;CCDC148,3_prime_UTR_variant,,ENST00000448656,;							MODERATE	1307/1776	D436G	CC148_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000283233	5.77E-05	CCDS33304.1			1	
STRC	0	LGGM	GRCh37	15	43910184	43910184	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	28	4	.	.	ENST00000450892.2:c.435G>T	p.Leu145=	p.L145=	ENST00000450892	NM_153700.2	145	ctG/ctT	0	1	1	UPI000013E60F	0		ENST00000450892		ENSG00000242866	16035		32			HGNC	p.L145L	rs764960804	STRC		SNV			1				ENST00000450892	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		L		A		513/5680	6.15E-05			E7EPM8_HUMAN			YES	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000432436,;STRC,5_prime_UTR_variant,,ENST00000541030,;snoU13,downstream_gene_variant,,ENST00000459277,;STRC,synonymous_variant,p.=,ENST00000428650,;STRC,synonymous_variant,p.=,ENST00000440125,;STRC,upstream_gene_variant,,ENST00000485556,;STRC,upstream_gene_variant,,ENST00000471703,;STRC,upstream_gene_variant,,ENST00000448437,;STRC,upstream_gene_variant,,ENST00000455136,;STRC,upstream_gene_variant,,ENST00000483250,;STRC,upstream_gene_variant,,ENST00000470279,;							LOW	435/5328		STRC_HUMAN			Transcript			.	ENSP00000401513	3.31E-05	CCDS10098.1			1	
ATP5B	0	LGGM	GRCh37	12	57037258	57037258	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	95	4	.	.	ENST00000262030.3:c.721C>A	p.Arg241Ser	p.R241S	ENST00000262030	NM_001686.3	241	Cgt/Agt	0	1	1	UPI000012644E	0	getma.org/pdb.php?prot=ATPB_HUMAN&from=185&to=405&var=R241S	ENST00000262030		ENSG00000110955	830		99	4.225		HGNC	p.R241S		ATP5B		SNV							ENST00000262030	protein_coding	getma.org/?cm=var&var=hg19,12,57037258,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01039,Gene3D:3.40.50.300,hmmpanther:PTHR15184:SF32,hmmpanther:PTHR15184,HAMAP:MF_01347		R/S		T	high	772/1789		getma.org/?cm=msa&ty=f&p=ATPB_HUMAN&rb=185&re=405&var=R241S	deleterious_low_confidence(0)	Q0QEN7_HUMAN			YES	ATP5B,missense_variant,p.Arg241Ser,ENST00000262030,NM_001686.3;ATP5B,missense_variant,p.Arg241Ser,ENST00000552919,;ATP5B,missense_variant,p.Arg178Ser,ENST00000552959,;ATP5B,missense_variant,p.Arg180Ser,ENST00000551020,;ATP5B,missense_variant,p.Arg142Ser,ENST00000553007,;ATP5B,missense_variant,p.Arg34Ser,ENST00000551570,;ATP5B,intron_variant,,ENST00000552104,;SNORD59A,downstream_gene_variant,,ENST00000384304,NR_002737.1;ATP5B,non_coding_transcript_exon_variant,,ENST00000547250,;ATP5B,non_coding_transcript_exon_variant,,ENST00000548647,;ATP5B,intron_variant,,ENST00000547808,;ATP5B,intron_variant,,ENST00000548474,;ATP5B,upstream_gene_variant,,ENST00000550162,;ATP5B,upstream_gene_variant,,ENST00000551182,;							MODERATE	721/1590	R241S	ATPB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262030		CCDS8924.1			1	
CAPN7	0	LGGM	GRCh37	3	15287165	15287165	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093609	H093609N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	4	.	.	ENST00000253693.2:c.1997A>G	p.His666Arg	p.H666R	ENST00000253693	NM_014296.2	666	cAt/cGt	0	1	1	UPI0000038A6D	0	NA	ENST00000253693		ENSG00000131375	1484		43	-0.11		HGNC	p.H666R		CAPN7		SNV							ENST00000253693	protein_coding	getma.org/?cm=var&var=hg19,3,15287165,A,G&fts=all		Prints_domain:PR00704,Superfamily_domains:SSF49758,Gene3D:2.60.120.380,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF22		H/R		G	neutral	2250/4353		getma.org/?cm=msa&ty=f&p=CAN7_HUMAN&rb=538&re=686&var=H666R	tolerated(0.16)				YES	CAPN7,missense_variant,p.His666Arg,ENST00000253693,NM_014296.2;CAPN7,3_prime_UTR_variant,,ENST00000443567,;CAPN7,upstream_gene_variant,,ENST00000463417,;CAPN7,upstream_gene_variant,,ENST00000472400,;							MODERATE	1997/2442	H666R	CAN7_HUMAN			Transcript		benign(0.009)	.	ENSP00000253693		CCDS2624.1			1	
MERTK	0	LGGM	GRCh37	2	112765962	112765962	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	35	4	.	.	ENST00000295408.4:c.1870G>T	p.Asp624Tyr	p.D624Y	ENST00000295408		624	Gac/Tac	0	1	1	UPI000013E252	0	getma.org/pdb.php?prot=MERTK_HUMAN&from=587&to=854&var=D624Y	ENST00000295408		ENSG00000153208	7027		39	2.47		HGNC	p.D624Y		MERTK		SNV			1				ENST00000421804	protein_coding	getma.org/?cm=var&var=hg19,2,112765962,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF257,Gene3D:3.30.200.20,Pfam_domain:PF07714,SMART_domains:SM00219,Superfamily_domains:SSF56112		D/Y		T	medium	2127/3954		getma.org/?cm=msa&ty=f&p=MERTK_HUMAN&rb=587&re=854&var=D624Y	deleterious(0.01)	Q96T45_HUMAN,Q53R53_HUMAN,Q53QW0_HUMAN,Q07941_HUMAN,E9PHX8_HUMAN,B4DFQ0_HUMAN			YES	MERTK,missense_variant,p.Asp624Tyr,ENST00000295408,;MERTK,missense_variant,p.Asp624Tyr,ENST00000421804,NM_006343.2;MERTK,missense_variant,p.Asp448Tyr,ENST00000409780,;MERTK,splice_region_variant,,ENST00000439966,;MERTK,downstream_gene_variant,,ENST00000473065,;							MODERATE	1870/3000	D624Y	MERTK_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000295408		CCDS2094.1			1	
GKN2	0	LGGM	GRCh37	2	69174373	69174373	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	34	4	.	.	ENST00000328895.4:c.221G>T	p.Arg74Met	p.R74M	ENST00000328895	NM_182536.2	74	aGg/aTg	0	1	1	UPI0000160A98	0	NA	ENST00000328895		ENSG00000183607	24588		38	2.25		HGNC	p.R74M		GKN2		SNV							ENST00000481498	protein_coding	getma.org/?cm=var&var=hg19,2,69174373,C,A&fts=all		PROSITE_profiles:PS50869,hmmpanther:PTHR16483:SF3,hmmpanther:PTHR16483,Pfam_domain:PF04089,SMART_domains:SM01039		R/M		A	medium	330/800		getma.org/?cm=msa&ty=f&p=GKN2_HUMAN&rb=54&re=151&var=R74M	deleterious(0)				YES	GKN2,missense_variant,p.Arg74Met,ENST00000481498,;GKN2,missense_variant,p.Arg74Met,ENST00000328895,NM_182536.2;							MODERATE	221/555	R74M	GKN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000329292		CCDS33215.1			1	
OBSL1	0	LGGM	GRCh37	2	220424129	220424129	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	81	4	.	.	ENST00000404537.1:c.3044G>T	p.Arg1015Leu	p.R1015L	ENST00000404537	NM_015311.2	1015	cGg/cTg	0	1	1	UPI0000E07EA0	0	getma.org/pdb.php?prot=OBSL1_HUMAN&from=1001&to=1076&var=R1015L	ENST00000404537		ENSG00000124006	29092		85	2.81		HGNC	p.R6L	rs200288470	OBSL1		SNV	T:0		1				ENST00000265317	protein_coding	getma.org/?cm=var&var=hg19,2,220424129,C,A&fts=all	T:0	PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/L	T:0.0001	A	medium	3101/5841	1.50E-05	getma.org/?cm=msa&ty=f&p=OBSL1_HUMAN&rb=1001&re=1076&var=R1015L	tolerated(0.22)		T:0	T:0	YES	OBSL1,missense_variant,p.Arg1015Leu,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Arg1015Leu,ENST00000265318,;OBSL1,missense_variant,p.Arg1015Leu,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Arg1015Leu,ENST00000373876,;OBSL1,missense_variant,p.Arg6Leu,ENST00000265317,;OBSL1,missense_variant,p.Arg68Leu,ENST00000604031,;OBSL1,missense_variant,p.Arg9Leu,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000373873,NM_001173408.1;OBSL1,downstream_gene_variant,,ENST00000289656,;RP11-256I23.2,non_coding_transcript_exon_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000596474,;		T:0.0002					MODERATE	3044/5691	R1015L	OBSL1_HUMAN		T:0.001	Transcript		probably_damaging(0.922)	.	ENSP00000385636	8.24E-06	CCDS46520.1		T:0	1	
DEPDC5	0	LGGM	GRCh37	22	32302299	32302299	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	95	4	.	.	ENST00000382112.3:c.4601G>T	p.Arg1534Leu	p.R1534L	ENST00000382112	NM_001136029.2	1534	cGg/cTg	0	1		UPI00004708D4	0	NA	ENST00000400246		ENSG00000100150	18423		99	1.83		HGNC	p.R1443L		DEPDC5		SNV			1				ENST00000535622	protein_coding	getma.org/?cm=var&var=hg19,22,32302299,G,T&fts=all				G/W		T	low	4709/5410		getma.org/?cm=msa&ty=f&p=DEPD5_HUMAN&rb=1430&re=1572&var=R1512L	deleterious_low_confidence(0.01)	C9JGS4_HUMAN				DEPDC5,missense_variant,p.Gly1523Trp,ENST00000400246,;DEPDC5,missense_variant,p.Arg1521Leu,ENST00000266091,;DEPDC5,missense_variant,p.Arg1512Leu,ENST00000400249,NM_014662.3;DEPDC5,missense_variant,p.Arg1534Leu,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,missense_variant,p.Arg1512Leu,ENST00000400248,;DEPDC5,missense_variant,p.Gly1523Trp,ENST00000382111,;DEPDC5,missense_variant,p.Arg1443Leu,ENST00000535622,NM_001242897.1;DEPDC5,missense_variant,p.Arg919Leu,ENST00000433147,;DEPDC5,missense_variant,p.Arg360Leu,ENST00000539165,;DEPDC5,3_prime_UTR_variant,,ENST00000382105,;DEPDC5,intron_variant,,ENST00000497340,;DEPDC5,3_prime_UTR_variant,,ENST00000448753,;							MODERATE	4567/4659	R1512L	DEPD5_HUMAN			Transcript		unknown(0)	.	ENSP00000383105					1	
EXTL1	0	LGGM	GRCh37	1	26349446	26349446	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	31	4	.	.	ENST00000374280.3:c.309G>T	p.Ala103=	p.A103=	ENST00000374280	NM_004455.2	103	gcG/gcT	0	1	1	UPI000013DF48	0		ENST00000374280		ENSG00000158008	3515		35			HGNC	p.A103A		EXTL1		SNV							ENST00000374280	protein_coding			hmmpanther:PTHR11062:SF8,hmmpanther:PTHR11062		A		T		1176/4015							YES	EXTL1,synonymous_variant,p.=,ENST00000374280,NM_004455.2;EXTL1,intron_variant,,ENST00000481377,;EXTL1,upstream_gene_variant,,ENST00000484339,;							LOW	309/2031		EXTL1_HUMAN			Transcript			.	ENSP00000363398		CCDS271.1			1	
ANO6	0	LGGM	GRCh37	12	45796875	45796875	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	60	4	.	.	ENST00000423947.3:c.1696G>A	p.Asp566Asn	p.D566N	ENST00000423947	NM_001204803.1	566	Gat/Aat	0	1		UPI0000229358	0	NA	ENST00000320560		ENSG00000177119	25240		64	1.77		HGNC	p.D545N		ANO6		SNV			1				ENST00000320560	protein_coding	getma.org/?cm=var&var=hg19,12,45796875,G,A&fts=all		hmmpanther:PTHR12308:SF21,hmmpanther:PTHR12308,Pfam_domain:PF04547		D/N		A	low	1835/5975		getma.org/?cm=msa&ty=f&p=ANO6_HUMAN&rb=287&re=872&var=D545N	deleterious(0)					ANO6,missense_variant,p.Asp545Asn,ENST00000320560,NM_001025356.2;ANO6,missense_variant,p.Asp527Asn,ENST00000441606,NM_001142678.1;ANO6,missense_variant,p.Asp566Asn,ENST00000423947,NM_001204803.1;ANO6,missense_variant,p.Asp545Asn,ENST00000425752,NM_001142679.1;ANO6,missense_variant,p.Asp545Asn,ENST00000435642,;ANO6,non_coding_transcript_exon_variant,,ENST00000426898,;							MODERATE	1633/2733	D545N	ANO6_HUMAN			Transcript		possibly_damaging(0.677)	.	ENSP00000320087		CCDS31782.1			1	
TBC1D32	0	LGGM	GRCh37	6	121491611	121491611	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H093609	H093609N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	95	4	.	.	ENST00000398212.2:c.2571-9409T>A		*857*	ENST00000398212	NM_152730.4			0	1	1	UPI0000E67203	0		ENST00000398212		ENSG00000146350	21485		99			HGNC	p.V878E		TBC1D32		SNV							ENST00000275159	protein_coding							T		-/3824				A2A304_HUMAN			YES	TBC1D32,missense_variant,p.Val878Glu,ENST00000275159,;TBC1D32,intron_variant,,ENST00000398212,NM_152730.4;TBC1D32,intron_variant,,ENST00000398197,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;							MODIFIER	-/3774		BROMI_HUMAN			Transcript			.	ENSP00000381270		CCDS43501.1			1	
DNAJA3	0	LGGM	GRCh37	16	4491409	4491409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	34	4	.	.	ENST00000262375.6:c.463G>A	p.Asp155Asn	p.D155N	ENST00000262375	NM_005147.5	155	Gat/Aat	0	1	1	UPI0000043C38	0	getma.org/pdb.php?prot=DNJA3_HUMAN&from=93&to=155&var=D155N	ENST00000262375		ENSG00000103423	11808		38	2.115		HGNC	p.D155N		DNAJA3		SNV							ENST00000262375	protein_coding	getma.org/?cm=var&var=hg19,16,4491409,G,A&fts=all		Gene3D:1.10.287.110,HAMAP:MF_01152,Pfam_domain:PF00226,Prints_domain:PR00625,PROSITE_profiles:PS50076,hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF79,Superfamily_domains:SSF46565		D/N		A	medium	540/2763		getma.org/?cm=msa&ty=f&p=DNJA3_HUMAN&rb=93&re=155&var=D155N	deleterious(0.02)	Q59E88_HUMAN,Q53G26_HUMAN			YES	DNAJA3,missense_variant,p.Asp155Asn,ENST00000262375,NM_005147.5;DNAJA3,missense_variant,p.Asp155Asn,ENST00000355296,NM_001135110.2;DNAJA3,intron_variant,,ENST00000431375,NM_001286516.1;DNAJA3,intron_variant,,ENST00000574895,;DNAJA3,non_coding_transcript_exon_variant,,ENST00000572139,;DNAJA3,3_prime_UTR_variant,,ENST00000575106,;DNAJA3,3_prime_UTR_variant,,ENST00000570857,;DNAJA3,non_coding_transcript_exon_variant,,ENST00000577083,;DNAJA3,intron_variant,,ENST00000576911,;DNAJA3,downstream_gene_variant,,ENST00000573120,;DNAJA3,downstream_gene_variant,,ENST00000572009,;							MODERATE	463/1443	D155N	DNJA3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000262375		CCDS10515.1			1	
ADRA1B	0	LGGM	GRCh37	5	159344473	159344473	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	42	4	.	.	ENST00000306675.3:c.561G>T	p.Pro187=	p.P187=	ENST00000306675	NM_000679.3	187	ccG/ccT	0	1	1	UPI000003B079	0		ENST00000306675		ENSG00000170214	278		46			HGNC	p.P187P		ADRA1B		SNV							ENST00000306675	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF17,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		P		T		684/1738							YES	ADRA1B,synonymous_variant,p.=,ENST00000306675,NM_000679.3;							LOW	561/1563		ADA1B_HUMAN			Transcript			.	ENSP00000306662		CCDS4347.1			1	
RFC3	0	LGGM	GRCh37	13	34403974	34403974	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	41	4	.	.	ENST00000380071.3:c.393G>T	p.Val131=	p.V131=	ENST00000380071	NM_002915.3	131	gtG/gtT	0	1	1	UPI0000125168	0		ENST00000380071		ENSG00000133119	9971		45			HGNC	p.V131V		RFC3		SNV							ENST00000434425	protein_coding			hmmpanther:PTHR11669,hmmpanther:PTHR11669:SF1,Pfam_domain:PF13177,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		V		T		523/2402							YES	RFC3,splice_region_variant,p.=,ENST00000380071,NM_002915.3;RFC3,splice_region_variant,p.=,ENST00000434425,NM_181558.2;RNU5A-4P,upstream_gene_variant,,ENST00000516588,;							LOW	393/1071		RFC3_HUMAN			Transcript			.	ENSP00000369411		CCDS9352.1			1	
EPHA5	0	LGGM	GRCh37	4	66467410	66467410	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	39	4	.	.	ENST00000273854.3:c.859G>T	p.Gly287Trp	p.G287W	ENST00000273854	NM_004439.5	287	Ggg/Tgg	0	1	1	UPI000013D9D9	0	getma.org/pdb.php?prot=EPHA5_HUMAN&from=234&to=358&var=G287W	ENST00000273854		ENSG00000145242	3389		43	3.305		HGNC	p.G287W		EPHA5		SNV							ENST00000354839	protein_coding	getma.org/?cm=var&var=hg19,4,66467410,C,A&fts=all		hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,PROSITE_patterns:PS00791,PIRSF_domain:PIRSF000666		G/W		A	medium	1460/8266		getma.org/?cm=msa&ty=f&p=EPHA5_HUMAN&rb=234&re=358&var=G287W	deleterious(0)				YES	EPHA5,missense_variant,p.Gly287Trp,ENST00000273854,NM_004439.5,NM_001281765.1;EPHA5,missense_variant,p.Gly287Trp,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Gly287Trp,ENST00000432638,;EPHA5,missense_variant,p.Gly287Trp,ENST00000354839,NM_182472.2;							MODERATE	859/3114	G287W	EPHA5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000273854		CCDS3513.1			1	
GABRG2	0	LGGM	GRCh37	5	161569265	161569265	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	63	5	.	.	ENST00000414552.2:c.985C>T	p.Leu329=	p.L329=	ENST00000414552	NM_198903.2	329	Cta/Tta	0	1		UPI000013C948	0		ENST00000361925		ENSG00000113327	4087		68			HGNC	p.L194L		GABRG2		SNV			1				ENST00000393933	protein_coding			Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF498,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		L		T		1085/1739				E5RGG2_HUMAN,A8MWU7_HUMAN				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,synonymous_variant,p.=,ENST00000522053,;GABRG2,3_prime_UTR_variant,,ENST00000522990,;GABRG2,3_prime_UTR_variant,,ENST00000523372,;							LOW	865/1404		GBRG2_HUMAN			Transcript			.	ENSP00000354651		CCDS4358.1			1	
WIPF1	0	LGGM	GRCh37	2	175446125	175446125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	95	5	.	.	ENST00000392547.2:c.94G>T	p.Gly32Trp	p.G32W	ENST00000392547	NM_003387.4	32	Ggg/Tgg	0	1		UPI000013D4BD	0	NA	ENST00000359761		ENSG00000115935	12736		100	3.17		HGNC	p.G32W		WIPF1		SNV			1				ENST00000409891	protein_coding	getma.org/?cm=var&var=hg19,2,175446125,C,A&fts=all		PROSITE_profiles:PS51082,hmmpanther:PTHR23202:SF30,hmmpanther:PTHR23202,Pfam_domain:PF02205,SMART_domains:SM00246		G/W		A	medium	242/2003		getma.org/?cm=msa&ty=f&p=WIPF1_HUMAN&rb=9&re=75&var=G32W	deleterious(0)	C9JTB9_HUMAN				WIPF1,missense_variant,p.Gly32Trp,ENST00000392547,NM_003387.4;WIPF1,missense_variant,p.Gly32Trp,ENST00000272746,NM_001077269.1;WIPF1,missense_variant,p.Gly32Trp,ENST00000409891,;WIPF1,missense_variant,p.Gly32Trp,ENST00000392546,;WIPF1,missense_variant,p.Gly32Trp,ENST00000359761,;WIPF1,missense_variant,p.Gly32Trp,ENST00000409415,;WIPF1,missense_variant,p.Gly32Trp,ENST00000410117,;WIPF1,missense_variant,p.Gly32Trp,ENST00000455428,;WIPF1,missense_variant,p.Gly32Trp,ENST00000436221,;AC018890.6,intron_variant,,ENST00000442996,;AC018890.6,intron_variant,,ENST00000412835,;AC010894.5,intron_variant,,ENST00000454203,;WIPF1,non_coding_transcript_exon_variant,,ENST00000480400,;							MODERATE	94/1512	G32W	WIPF1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352802		CCDS2260.1			1	
PLCE1	0	LGGM	GRCh37	10	96058390	96058390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	95	5	.	.	ENST00000371380.3:c.5422G>T	p.Gly1808Trp	p.G1808W	ENST00000371380		1808	Ggg/Tgg	0	1		UPI00001F93EE	0	getma.org/pdb.php?prot=PLCE1_HUMAN&from=1739&to=1846&var=G1808W	ENST00000260766		ENSG00000138193	17175		100	3.7		HGNC	p.G1808W		PLCE1		SNV			1				ENST00000260766	protein_coding	getma.org/?cm=var&var=hg19,10,96058390,G,T&fts=all		PROSITE_profiles:PS50008,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF6,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,Superfamily_domains:SSF51695,Prints_domain:PR00390		G/W		T	high	6056/7992		getma.org/?cm=msa&ty=f&p=PLCE1_HUMAN&rb=1739&re=1846&var=G1808W	deleterious(0)	B7ZM61_HUMAN				PLCE1,missense_variant,p.Gly1808Trp,ENST00000371380,;PLCE1,missense_variant,p.Gly1808Trp,ENST00000260766,NM_016341.3;PLCE1,missense_variant,p.Gly1500Trp,ENST00000371375,;PLCE1,missense_variant,p.Gly1500Trp,ENST00000371385,NM_001165979.1;							MODERATE	5422/6909	G1808W	PLCE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260766		CCDS41552.1			1	
PLBD1	0	LGGM	GRCh37	12	14664539	14664539	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	81	5	.	.	ENST00000240617.5:c.951C>A	p.Pro317=	p.P317=	ENST00000240617	NM_024829.5	317	ccC/ccA	0	1	1	UPI00004565DA	0		ENST00000240617		ENSG00000121316	26215		86			HGNC	p.P317P		PLBD1		SNV							ENST00000240617	protein_coding			hmmpanther:PTHR12370,Pfam_domain:PF04916		P		T		1604/2426				F5H053_HUMAN			YES	PLBD1,synonymous_variant,p.=,ENST00000240617,NM_024829.5;PLBD1,3_prime_UTR_variant,,ENST00000541618,;PLBD1,non_coding_transcript_exon_variant,,ENST00000541800,;							LOW	951/1662		PLBL1_HUMAN			Transcript			.	ENSP00000240617		CCDS31751.1			1	
VCAN	0	LGGM	GRCh37	5	82816628	82816628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093609	H093609N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	85	5	.	.	ENST00000265077.3:c.2503G>T	p.Gly835Trp	p.G835W	ENST00000265077	NM_004385.4	835	Ggg/Tgg	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		90	1.67		HGNC	p.G835W		VCAN		SNV			1				ENST00000265077	protein_coding	getma.org/?cm=var&var=hg19,5,82816628,G,T&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		G/W		T	low	3068/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=441&re=2065&var=G835W	deleterious(0)				YES	VCAN,missense_variant,p.Gly835Trp,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Gly835Trp,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Gly787Trp,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000515397,;							MODERATE	2503/10191	G835W	CSPG2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000265077		CCDS4060.1			1	
CR1	0	LGGM	GRCh37	1	207753740	207753740	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	95	5	.	.	ENST00000367049.4:c.5092C>A	p.Pro1698Thr	p.P1698T	ENST00000367049	NM_000651.4	1698	Cct/Act	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1197&to=1253&var=P1248T	ENST00000367051		ENSG00000203710	2334		100	2.085		HGNC	p.P1248T		CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207753740,C,A&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		P/T		A	medium	3853/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1197&re=1253&var=P1248T	deleterious(0.01)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Pro1698Thr,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Pro1248Thr,ENST00000367052,;CR1,missense_variant,p.Pro1248Thr,ENST00000367051,;CR1,missense_variant,p.Pro1248Thr,ENST00000367053,;CR1,missense_variant,p.Pro1248Thr,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Pro798Thr,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,intron_variant,,ENST00000596003,;							MODERATE	3742/6120	P1248T	CR1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000356018					1	
FAT4	0	LGGM	GRCh37	4	126370423	126370423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	67	5	.	.	ENST00000394329.3:c.8252C>A	p.Pro2751Gln	p.P2751Q	ENST00000394329	NM_024582.4	2751	cCg/cAg	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=2675&to=2764&var=P2751Q	ENST00000394329		ENSG00000196159	23109		72	2.63		HGNC	p.P2751Q		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126370423,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		P/Q		A	medium	8265/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=2675&re=2764&var=P2751Q		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Pro2751Gln,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Pro1049Gln,ENST00000335110,;FAT4,downstream_gene_variant,,ENST00000509444,;							MODERATE	8252/14946	P2751Q	FAT4_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000377862		CCDS3732.3			1	
ZDBF2	0	LGGM	GRCh37	2	207172563	207172563	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093609	H093609N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	119	7	.	.	ENST00000374423.3:c.3311T>G	p.Leu1104Arg	p.L1104R	ENST00000374423	NM_020923.1	1104	cTg/cGg	0	1	1	UPI000022BDE3	0	NA	ENST00000374423		ENSG00000204186	29313		126	1.83		HGNC	p.L1104R		ZDBF2		SNV							ENST00000374423	protein_coding	getma.org/?cm=var&var=hg19,2,207172563,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		L/R		G	low	3697/10282		getma.org/?cm=msa&ty=f&p=ZDBF2_HUMAN&rb=39&re=2352&var=L1104R	deleterious(0)	N0DVB2_HUMAN			YES	ZDBF2,missense_variant,p.Leu1104Arg,ENST00000374423,NM_020923.1,NM_001285549.1;							MODERATE	3311/7065	L1104R	ZDBF2_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000363545		CCDS46501.1			1	
NBEA	0	LGGM	GRCh37	13	35624413	35624413	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093609	H093609N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	97	7	.	.	ENST00000400445.3:c.853A>T	p.Thr285Ser	p.T285S	ENST00000400445	NM_015678.4	285	Act/Tct	0	1	1	UPI00004FF92F	0	NA	ENST00000400445		ENSG00000172915	7648		104	1.545		HGNC	p.T285S		NBEA		SNV							ENST00000310336	protein_coding	getma.org/?cm=var&var=hg19,13,35624413,A,T&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:2.60.120.200,Pfam_domain:PF13385,Superfamily_domains:SSF49899		T/S		T	low	1387/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=231&re=403&var=T285S	deleterious(0.03)				YES	NBEA,missense_variant,p.Thr285Ser,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Thr285Ser,ENST00000540320,;NBEA,missense_variant,p.Thr285Ser,ENST00000310336,;NBEA,missense_variant,p.Thr285Ser,ENST00000379939,;							MODERATE	853/8841	T285S	NBEA_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000383295		CCDS45026.1			1	
MCM3	0	LGGM	GRCh37	6	52131479	52131479	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093609	H093609N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093609N.bam, H093609T.bam	Illumina HiSeq	111	7	.	.	ENST00000596288.1:c.2223G>T	p.Gln741His	p.Q741H	ENST00000596288	NM_002388.4	741	caG/caT	0	1		UPI000012ED97	0	NA	ENST00000229854		ENSG00000112118	6945		118	0		HGNC	p.Q191H		MCM3		SNV							ENST00000421471	protein_coding	getma.org/?cm=var&var=hg19,6,52131479,C,A&fts=all		hmmpanther:PTHR11630,hmmpanther:PTHR11630:SF72		Q/H		A	neutral	2165/3083		getma.org/?cm=msa&ty=f&p=MCM3_HUMAN&rb=655&re=808&var=Q696H	tolerated(0.13)	Q8NHX6_HUMAN				MCM3,missense_variant,p.Gln741His,ENST00000596288,NM_002388.4;MCM3,missense_variant,p.Gln696His,ENST00000229854,;MCM3,missense_variant,p.Gln650His,ENST00000419835,NM_001270472.1;MCM3,missense_variant,p.Gln191His,ENST00000421471,;							MODERATE	2088/2427	Q696H	MCM3_HUMAN			Transcript		benign(0)	.	ENSP00000229854					1	
GBGT1	0	LGGM	GRCh37	9	136029548	136029548	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	5	2	.	.	ENST00000372040.3:c.460G>A	p.Val154Ile	p.V154I	ENST00000372040		154	Gtt/Att	0	1	1	UPI000013DB02	0	getma.org/pdb.php?prot=GBGT1_HUMAN&from=11&to=347&var=V154I	ENST00000372040		ENSG00000148288	20460		7	-0.155		HGNC	p.V154I	rs769944218,COSM3213194	GBGT1		SNV				9.88E-05		0,1	ENST00000372040	protein_coding	getma.org/?cm=var&var=hg19,9,136029548,C,T&fts=all		hmmpanther:PTHR10462:SF29,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448		V/I		T	neutral	772/1980		getma.org/?cm=msa&ty=f&p=GBGT1_HUMAN&rb=11&re=347&var=V154I	tolerated(0.66)	J7Q0Z1_HUMAN,J7PW20_HUMAN			YES	GBGT1,missense_variant,p.Val154Ile,ENST00000372040,;GBGT1,missense_variant,p.Val137Ile,ENST00000540636,NM_001282632.1;GBGT1,synonymous_variant,p.=,ENST00000372043,NM_021996.4,NM_001282629.1;GBGT1,3_prime_UTR_variant,,ENST00000372038,;RALGDS,intron_variant,,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000393160,NM_001042368.2;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;	0.000117				0,1		MODERATE	460/1044	V154I	GBGT1_HUMAN			Transcript		benign(0.105)	.	ENSP00000361110	1.65E-05	CCDS6960.1			1	
SMPD3	0	LGGM	GRCh37	16	68404788	68404788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	2	2	.	.	ENST00000219334.5:c.1297G>T	p.Ala433Ser	p.A433S	ENST00000219334	NM_018667.3	433	Gcc/Tcc	0	1	1	UPI0000037769	0	getma.org/pdb.php?prot=NSMA2_HUMAN&from=325&to=639&var=A433S	ENST00000219334		ENSG00000103056	14240		4	1.335		HGNC	p.A41S		SMPD3		SNV							ENST00000574662	protein_coding	getma.org/?cm=var&var=hg19,16,68404788,C,A&fts=all		hmmpanther:PTHR16320:SF5,hmmpanther:PTHR16320,Gene3D:3.60.10.10,Pfam_domain:PF03372,Superfamily_domains:SSF56219		A/S		A	low	1901/5450		getma.org/?cm=msa&ty=f&p=NSMA2_HUMAN&rb=325&re=639&var=A433S	tolerated(0.08)	H3BTM0_HUMAN,D6Q0F1_HUMAN,C8CHW6_HUMAN			YES	SMPD3,missense_variant,p.Ala433Ser,ENST00000219334,NM_018667.3;SMPD3,missense_variant,p.Ala433Ser,ENST00000563226,;SMPD3,missense_variant,p.Ala433Ser,ENST00000568373,;SMPD3,missense_variant,p.Trp41Cys,ENST00000574662,;SMPD3,downstream_gene_variant,,ENST00000561749,;SMPD3,non_coding_transcript_exon_variant,,ENST00000566009,;SMPD3,non_coding_transcript_exon_variant,,ENST00000566466,;SMPD3,non_coding_transcript_exon_variant,,ENST00000563455,;SMPD3,downstream_gene_variant,,ENST00000566723,;SMPD3,non_coding_transcript_exon_variant,,ENST00000567811,;SMPD3,non_coding_transcript_exon_variant,,ENST00000567223,;							MODERATE	1297/1968	A433S	NSMA2_HUMAN			Transcript		benign(0.077)	.	ENSP00000219334		CCDS10867.1			1	
RNASEH2B	0	LGGM	GRCh37	13	51530541	51530541	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	7	2	.	.	ENST00000336617.3:c.870C>A	p.Asp290Glu	p.D290E	ENST00000336617	NM_024570.3	290	gaC/gaA	0	1	1	UPI000013CFE7	0	NA	ENST00000336617		ENSG00000136104	25671		9	2.505		HGNC	p.D290E		RNASEH2B		SNV			1				ENST00000336617	protein_coding	getma.org/?cm=var&var=hg19,13,51530541,C,A&fts=all		hmmpanther:PTHR13383:SF11,hmmpanther:PTHR13383,Pfam_domain:PF09468		D/E		A	medium	1269/1629		getma.org/?cm=msa&ty=f&p=RNH2B_HUMAN&rb=14&re=301&var=D290E	deleterious(0.04)				YES	RNASEH2B,missense_variant,p.Asp290Glu,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,;							MODERATE	870/939	D290E	RNH2B_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000337623		CCDS9425.1			1	
NID1	0	LGGM	GRCh37	1	236154336	236154336	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	12	2	.	.	ENST00000264187.6:c.2778G>T	p.Pro926=	p.P926=	ENST00000264187	NM_002508.2	926	ccG/ccT	0	1	1	UPI000013D4D9	0		ENST00000264187		ENSG00000116962	7821		14			HGNC	p.P926P		NID1		SNV							ENST00000264187	protein_coding			hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529		P		A		2861/5864							YES	NID1,synonymous_variant,p.=,ENST00000264187,NM_002508.2;NID1,synonymous_variant,p.=,ENST00000366595,;							LOW	2778/3744		NID1_HUMAN			Transcript			.	ENSP00000264187		CCDS1608.1			1	
ANTXR2	0	LGGM	GRCh37	4	80952831	80952831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	7	2	.	.	ENST00000307333.7:c.812G>T	p.Ser271Ile	p.S271I	ENST00000307333	NM_001145794.1	271	aGt/aTt	0	1	1	UPI000036725D	0	NA	ENST00000307333		ENSG00000163297	21732		9	1.78		HGNC	p.S271I		ANTXR2		SNV			1				ENST00000403729	protein_coding	getma.org/?cm=var&var=hg19,4,80952831,C,A&fts=all		Pfam_domain:PF05587,PIRSF_domain:PIRSF038023,hmmpanther:PTHR16059,hmmpanther:PTHR16059:SF13		S/I		A	low	815/1473		getma.org/?cm=msa&ty=f&p=ANTR2_HUMAN&rb=214&re=318&var=S271I	tolerated(0.19)				YES	ANTXR2,missense_variant,p.Ser271Ile,ENST00000403729,NM_058172.5;ANTXR2,missense_variant,p.Ser271Ile,ENST00000295465,;ANTXR2,missense_variant,p.Ser271Ile,ENST00000307333,NM_001145794.1;ANTXR2,missense_variant,p.Ser194Ile,ENST00000404191,NM_001286780.1,NM_001286781.1;ANTXR2,intron_variant,,ENST00000346652,;ANTXR2,missense_variant,p.Ser194Ile,ENST00000449651,;							MODERATE	812/1470	S271I	ANTR2_HUMAN			Transcript		benign(0.009)	.	ENSP00000306185		CCDS47086.1			1	
SYP	0	LGGM	GRCh37	X	49054256	49054256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	4	2	.	.	ENST00000263233.4:c.145G>T	p.Gly49Trp	p.G49W	ENST00000263233	NM_003179.2	49	Ggg/Tgg	0	1	1	UPI0000117AEC	0	NA	ENST00000263233		ENSG00000102003	11506		6	3.085		HGNC	p.G49W		SYP		SNV			1				ENST00000466635	protein_coding	getma.org/?cm=var&var=hg19,X,49054256,C,A&fts=all		PROSITE_profiles:PS51225,hmmpanther:PTHR10306,hmmpanther:PTHR10306:SF10,Pfam_domain:PF01284,Prints_domain:PR00220		G/W		A	medium	218/2486		getma.org/?cm=msa&ty=f&p=SYPH_HUMAN&rb=21&re=221&var=G49W	deleterious(0)	B7Z359_HUMAN			YES	SYP,missense_variant,p.Gly49Trp,ENST00000263233,NM_003179.2;SYP,missense_variant,p.Gly49Trp,ENST00000479808,;SYP,intron_variant,,ENST00000538567,;SYP,intron_variant,,ENST00000472598,;SYP-AS1,upstream_gene_variant,,ENST00000433499,;SYP,missense_variant,p.Gly49Trp,ENST00000469389,;SYP,missense_variant,p.Gly49Trp,ENST00000466635,;SYP,non_coding_transcript_exon_variant,,ENST00000494396,;SYP,non_coding_transcript_exon_variant,,ENST00000472737,;SYP,intron_variant,,ENST00000376303,;							MODERATE	145/942	G49W	SYPH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263233		CCDS14321.1			1	
GNB5	0	LGGM	GRCh37	15	52416753	52416753	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	25	2	.	.	ENST00000261837.7:c.1093G>A	p.Gly365Arg	p.G365R	ENST00000261837	NM_016194.3	365	Gga/Aga	0	1	1	UPI000006E214	0	getma.org/pdb.php?prot=GBB5_HUMAN&from=357&to=395&var=G365R	ENST00000261837		ENSG00000069966	4401		27	2.785		HGNC	p.G323R		GNB5		SNV							ENST00000358784	protein_coding	getma.org/?cm=var&var=hg19,15,52416753,C,T&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF12,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,PIRSF_domain:PIRSF002394,Superfamily_domains:SSF50978		G/R		T	medium	1159/3091		getma.org/?cm=msa&ty=f&p=GBB5_HUMAN&rb=357&re=395&var=G365R	deleterious(0)	H0YLU1_HUMAN			YES	GNB5,missense_variant,p.Gly365Arg,ENST00000261837,NM_016194.3;GNB5,missense_variant,p.Gly253Arg,ENST00000396335,;GNB5,missense_variant,p.Gly323Arg,ENST00000358784,NM_006578.3;CTD-2184D3.6,downstream_gene_variant,,ENST00000559825,;CTD-2184D3.7,upstream_gene_variant,,ENST00000557898,;GNB5,non_coding_transcript_exon_variant,,ENST00000559348,;GNB5,3_prime_UTR_variant,,ENST00000558519,;GNB5,non_coding_transcript_exon_variant,,ENST00000557936,;GNB5,non_coding_transcript_exon_variant,,ENST00000559541,;GNB5,intron_variant,,ENST00000560085,;							MODERATE	1093/1188	G365R	GBB5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000261837		CCDS10149.1			1	
USP36	0	LGGM	GRCh37	17	76831516	76831516	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	4	2	.	.	ENST00000542802.3:c.321G>T	p.Thr107=	p.T107=	ENST00000542802		107	acG/acT	0	1	1	UPI00000398BB	0		ENST00000542802		ENSG00000055483	20062		6			HGNC	p.T107T		USP36		SNV							ENST00000586896	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF409		T		A		765/6063				K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN			YES	USP36,synonymous_variant,p.=,ENST00000542802,;USP36,synonymous_variant,p.=,ENST00000312010,NM_025090.3;USP36,synonymous_variant,p.=,ENST00000590546,;USP36,synonymous_variant,p.=,ENST00000589424,;USP36,synonymous_variant,p.=,ENST00000586531,;USP36,synonymous_variant,p.=,ENST00000586896,;USP36,downstream_gene_variant,,ENST00000587783,;USP36,downstream_gene_variant,,ENST00000592275,;USP36,downstream_gene_variant,,ENST00000588365,;USP36,missense_variant,p.Arg57Leu,ENST00000591942,;USP36,synonymous_variant,p.=,ENST00000589225,;USP36,synonymous_variant,p.=,ENST00000588086,;USP36,downstream_gene_variant,,ENST00000592907,;							LOW	321/3372		UBP36_HUMAN			Transcript			.	ENSP00000441214		CCDS32755.1			1	
LMO2	0	LGGM	GRCh37	11	33886176	33886176	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	0	2	.	.	ENST00000257818.2:c.436C>T	p.Arg146Trp	p.R146W	ENST00000257818	NM_005574.3	146	Cgg/Tgg	0	1		UPI0000000F36	0	getma.org/pdb.php?prot=RBTN2_HUMAN&from=30&to=88&var=R77W	ENST00000395833		ENSG00000135363	6642		2	2.785		HGNC	p.R77W		LMO2		SNV							ENST00000395833	protein_coding	getma.org/?cm=var&var=hg19,11,33886176,G,A&fts=all		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,SMART_domains:SM00132,Superfamily_domains:SSF57716		R/W		A	medium	659/1687		getma.org/?cm=msa&ty=f&p=RBTN2_HUMAN&rb=30&re=88&var=R77W	deleterious(0.02)					LMO2,missense_variant,p.Arg146Trp,ENST00000257818,NM_005574.3;LMO2,missense_variant,p.Arg77Trp,ENST00000395833,NM_001142316.1,NM_001142315.1;LMO2,downstream_gene_variant,,ENST00000493667,;LMO2,3_prime_UTR_variant,,ENST00000411482,;LMO2,non_coding_transcript_exon_variant,,ENST00000464025,;LMO2,downstream_gene_variant,,ENST00000465614,;							MODERATE	229/477	R77W	RBTN2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000379175		CCDS44567.1			1	
RNF150	0	LGGM	GRCh37	4	141847172	141847172	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	13	2	.	.	ENST00000515673.2:c.946C>T	p.Pro316Ser	p.P316S	ENST00000515673		316	Ccc/Tcc	0	1	1	UPI00004C9B0C	0	getma.org/pdb.php?prot=RN150_HUMAN&from=276&to=321&var=P316S	ENST00000515673		ENSG00000170153	23138		15	4.615		HGNC	p.P175S		RNF150		SNV							ENST00000420921	protein_coding	getma.org/?cm=var&var=hg19,4,141847172,G,A&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR22765:SF42,hmmpanther:PTHR22765,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850		P/S		A	high	980/9805		getma.org/?cm=msa&ty=f&p=RN150_HUMAN&rb=276&re=321&var=P316S	deleterious(0.02)	D6RIE5_HUMAN			YES	RNF150,missense_variant,p.Pro316Ser,ENST00000515673,;RNF150,missense_variant,p.Pro274Ser,ENST00000306799,NM_020724.1;RNF150,missense_variant,p.Pro175Ser,ENST00000420921,;RNF150,missense_variant,p.Pro175Ser,ENST00000379512,;RNF150,missense_variant,p.Pro316Ser,ENST00000507500,;RNF150,missense_variant,p.Pro147Ser,ENST00000506101,;							MODERATE	946/1317	P316S	RN150_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000425840		CCDS34065.1			1	
TNFSF13	0	LGGM	GRCh37	17	7462993	7462993	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	6	2	.	.	ENST00000293826.4:c.551G>A	p.Arg184Lys	p.R184K	ENST00000293826	NM_172089.3	184	aGa/aAa	0	1	1	UPI0000001BFC	0	NA	ENST00000338784		ENSG00000161955	11928		8	1.935		HGNC	p.R104K		TNFSF13		SNV							ENST00000349228	protein_coding	getma.org/?cm=var&var=hg19,17,7462993,G,A&fts=all		hmmpanther:PTHR15151,hmmpanther:PTHR15151:SF10		R/K		A	medium	754/1971		getma.org/?cm=msa&ty=f&p=TNF13_HUMAN&rb=1&re=135&var=R104K	deleterious(0.01)	Q6U6I7_HUMAN,K7EJ28_HUMAN,C9JF68_HUMAN			YES	TNFSF13,missense_variant,p.Arg104Lys,ENST00000349228,NM_172087.2;TNFSF13,missense_variant,p.Arg104Lys,ENST00000338784,NM_003808.3;TNFSF12-TNFSF13,missense_variant,p.Arg184Lys,ENST00000293826,NM_172089.3;TNFSF12,missense_variant,p.Arg184Lys,ENST00000557233,;TNFSF13,missense_variant,p.Arg104Lys,ENST00000396545,NM_172088.2;TNFSF13,missense_variant,p.Arg87Lys,ENST00000436057,;TNFSF13,missense_variant,p.Arg87Lys,ENST00000438470,;TNFSF13,intron_variant,,ENST00000380535,NM_001198623.1;TNFSF13,intron_variant,,ENST00000483039,;TNFSF13,intron_variant,,ENST00000396542,NM_001198624.1;SENP3,upstream_gene_variant,,ENST00000321337,NM_015670.5;SENP3,upstream_gene_variant,,ENST00000429205,;TNFSF12,downstream_gene_variant,,ENST00000293825,NM_003809.2;SENP3-EIF4A1,upstream_gene_variant,,ENST00000579777,;SENP3,upstream_gene_variant,,ENST00000578868,;TNFSF12,downstream_gene_variant,,ENST00000462811,;TNFSF12,downstream_gene_variant,,ENST00000462619,;TNFSF12,downstream_gene_variant,,ENST00000322272,;SENP3,upstream_gene_variant,,ENST00000583277,;							MODERATE	311/753	R104K	TNF13_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000343505		CCDS11111.1			1	
SNAPC2	0	LGGM	GRCh37	19	7986628	7986628	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	6	2	.	.	ENST00000221573.6:c.342G>T	p.Leu114=	p.L114=	ENST00000221573	NM_003083.3	114	ctG/ctT	0	1	1	UPI0000000CBC	0		ENST00000221573		ENSG00000104976	11135		8			HGNC	p.L114L		SNAPC2		SNV							ENST00000221573	protein_coding			hmmpanther:PTHR15132,Pfam_domain:PF11035		L		T		393/1542				M0R1L8_HUMAN			YES	SNAPC2,synonymous_variant,p.=,ENST00000221573,NM_003083.3;SNAPC2,synonymous_variant,p.=,ENST00000595637,;SNAPC2,5_prime_UTR_variant,,ENST00000597584,;TIMM44,downstream_gene_variant,,ENST00000270538,NM_006351.3;CTXN1,downstream_gene_variant,,ENST00000318978,NM_206833.3;TGFBR3L,downstream_gene_variant,,ENST00000565886,NM_001195259.1;TIMM44,downstream_gene_variant,,ENST00000595565,;CTD-3193O13.1,upstream_gene_variant,,ENST00000564226,;CTD-3193O13.8,upstream_gene_variant,,ENST00000594308,;SNAPC2,non_coding_transcript_exon_variant,,ENST00000595035,;SNAPC2,non_coding_transcript_exon_variant,,ENST00000596520,;SNAPC2,non_coding_transcript_exon_variant,,ENST00000593598,;TGFBR3L,downstream_gene_variant,,ENST00000564348,;TIMM44,downstream_gene_variant,,ENST00000599939,;TIMM44,downstream_gene_variant,,ENST00000595831,;TGFBR3L,downstream_gene_variant,,ENST00000566166,;							LOW	342/1005		SNPC2_HUMAN			Transcript			.	ENSP00000221573		CCDS12190.1			1	
CSPG4	0	LGGM	GRCh37	15	75975203	75975203	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	5	2	.	.	ENST00000308508.5:c.4629C>A	p.Leu1543=	p.L1543=	ENST00000308508	NM_001897.4	1543	ctC/ctA	0	1	1	UPI00001AEEB6	0		ENST00000308508		ENSG00000173546	2466		7			HGNC	p.L1543L		CSPG4		SNV							ENST00000308508	protein_coding			hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11		L		T		4722/8290							YES	CSPG4,synonymous_variant,p.=,ENST00000308508,NM_001897.4;AC105020.1,downstream_gene_variant,,ENST00000435356,;							LOW	4629/6969		CSPG4_HUMAN			Transcript			.	ENSP00000312506		CCDS10284.1			1	
UBR4	0	LGGM	GRCh37	1	19447798	19447798	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	13	2	.	.	ENST00000375254.3:c.10026C>T	p.Ser3342=	p.S3342=	ENST00000375254	NM_020765.2	3342	tcC/tcT	0	1	1	UPI000021276F	0		ENST00000375254		ENSG00000127481	30313		15			HGNC	p.S3342S		UBR4		SNV							ENST00000375267	protein_coding			hmmpanther:PTHR21725,Low_complexity_(Seg):seg		S		A		10054/15906				Q96HY5_HUMAN			YES	UBR4,synonymous_variant,p.=,ENST00000375267,;UBR4,synonymous_variant,p.=,ENST00000375254,NM_020765.2;UBR4,synonymous_variant,p.=,ENST00000375217,;UBR4,synonymous_variant,p.=,ENST00000375226,;UBR4,synonymous_variant,p.=,ENST00000417040,;UBR4,synonymous_variant,p.=,ENST00000425413,;UBR4,upstream_gene_variant,,ENST00000375218,;UBR4,downstream_gene_variant,,ENST00000475973,;							LOW	10026/15552		UBR4_HUMAN			Transcript			.	ENSP00000364403		CCDS189.1			1	
BAIAP2L2	0	LGGM	GRCh37	22	38481740	38481740	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	38	3	.	.	ENST00000381669.3:c.1468-1G>T		p.X490_splice	ENST00000381669	NM_025045.4			0	1	1	UPI00001AECDC	0		ENST00000381669		ENSG00000128298	26203		41			HGNC	-		BAIAP2L2		SNV							ENST00000381669	protein_coding							A		-/2146							YES	BAIAP2L2,splice_acceptor_variant,,ENST00000381669,NM_025045.4;BAIAP2L2,intron_variant,,ENST00000428572,;SLC16A8,upstream_gene_variant,,ENST00000320521,NM_013356.2;SLC16A8,upstream_gene_variant,,ENST00000427592,;CTA-228A9.3,upstream_gene_variant,,ENST00000609162,;SLC16A8,upstream_gene_variant,,ENST00000469516,;							HIGH	1468/1590		BI2L2_HUMAN			Transcript			.	ENSP00000371085		CCDS43018.1			1	
DSC2	0	LGGM	GRCh37	18	28648970	28648970	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	26	3	.	.	ENST00000280904.6:c.2398G>A	p.Ala800Thr	p.A800T	ENST00000280904	NM_024422.3	800	Gct/Act	0	1	1	UPI00001298F9	0	NA	ENST00000280904		ENSG00000134755	3036		29	0.435		HGNC	p.A800T		DSC2		SNV			1				ENST00000280904	protein_coding	getma.org/?cm=var&var=hg19,18,28648970,C,T&fts=all		Pfam_domain:PF01049,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF0		A/T		T	neutral	2842/5124		getma.org/?cm=msa&ty=f&p=DSC2_HUMAN&rb=777&re=901&var=A800T	tolerated(0.14)	A9X9L1_HUMAN			YES	DSC2,missense_variant,p.Ala800Thr,ENST00000280904,NM_024422.3;DSC2,missense_variant,p.Ala800Thr,ENST00000251081,NM_004949.3;snoU13,upstream_gene_variant,,ENST00000459603,;							MODERATE	2398/2706	A800T	DSC2_HUMAN			Transcript		benign(0.009)	.	ENSP00000280904		CCDS11892.1			1	
ZMYM6NB	0	LGGM	GRCh37	1	35449378	35449378	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	36	3	.	.	ENST00000373337.3:c.279G>T	p.Leu93=	p.L93=	ENST00000373337	NM_001195156.1	93	ctG/ctT	0	1	1	UPI000006ED8A	0		ENST00000373337		ENSG00000243749	40021		39			HGNC	p.L93L		ZMYM6NB		SNV							ENST00000373337	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR13163:SF1,hmmpanther:PTHR13163,Pfam_domain:PF13564		L		A		327/922							YES	ZMYM6NB,synonymous_variant,p.=,ENST00000373337,NM_001195156.1;ZMYM6,downstream_gene_variant,,ENST00000357182,NM_007167.3;ZMYM6,downstream_gene_variant,,ENST00000373340,;RP11-244H3.1,intron_variant,,ENST00000417456,;ZMYM6,downstream_gene_variant,,ENST00000493328,;RP11-244H3.4,3_prime_UTR_variant,,ENST00000487874,;							LOW	279/465		ZMYNB_HUMAN			Transcript			.	ENSP00000362435		CCDS53296.1			1	
VPS36	0	LGGM	GRCh37	13	52991212	52991212	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	20	3	.	.	ENST00000378060.4:c.970G>T	p.Val324Leu	p.V324L	ENST00000378060	NM_016075.2	324	Gtg/Ttg	0	1	1	UPI000013CFE6	0	getma.org/pdb.php?prot=VPS36_HUMAN&from=154&to=369&var=V324L	ENST00000378060		ENSG00000136100	20312		23	0.805		HGNC	p.V324L		VPS36		SNV							ENST00000378060	protein_coding	getma.org/?cm=var&var=hg19,13,52991212,C,A&fts=all		hmmpanther:PTHR13128:SF12,hmmpanther:PTHR13128,Gene3D:1.10.10.10,Pfam_domain:PF04157,Superfamily_domains:SSF46785		V/L		A	low	998/4417		getma.org/?cm=msa&ty=f&p=VPS36_HUMAN&rb=154&re=369&var=V324L	tolerated(0.2)				YES	VPS36,missense_variant,p.Val324Leu,ENST00000378060,NM_016075.2,NM_001282169.1,NM_001282168.1;VPS36,upstream_gene_variant,,ENST00000462289,;VPS36,upstream_gene_variant,,ENST00000497149,;							MODERATE	970/1161	V324L	VPS36_HUMAN			Transcript		benign(0.001)	.	ENSP00000367299		CCDS9434.1			1	
LYPLAL1	0	LGGM	GRCh37	1	219366580	219366580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	32	3	.	.	ENST00000366928.5:c.348C>A	p.Asn116Lys	p.N116K	ENST00000366928	NM_138794.3	116	aaC/aaA	0	1	1	UPI000013D8ED	0	getma.org/pdb.php?prot=LYPL1_HUMAN&from=9&to=229&var=N116K	ENST00000366928		ENSG00000143353	20440		35	2.17		HGNC	p.N116K		LYPLAL1		SNV							ENST00000366928	protein_coding	getma.org/?cm=var&var=hg19,1,219366580,C,A&fts=all		Superfamily_domains:SSF53474,Pfam_domain:PF02230,Gene3D:3.40.50.1820,hmmpanther:PTHR10655:SF18,hmmpanther:PTHR10655		N/K		A	medium	395/1898		getma.org/?cm=msa&ty=f&p=LYPL1_HUMAN&rb=9&re=229&var=N116K	tolerated(0.08)				YES	LYPLAL1,missense_variant,p.Asn116Lys,ENST00000366928,NM_138794.3;LYPLAL1,missense_variant,p.Asn100Lys,ENST00000366927,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000483635,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000463964,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000496776,;LYPLAL1,non_coding_transcript_exon_variant,,ENST00000478794,;LYPLAL1,intron_variant,,ENST00000477938,;LYPLAL1,intron_variant,,ENST00000460522,;LYPLAL1,intron_variant,,ENST00000469590,;LYPLAL1,intron_variant,,ENST00000474379,;							MODERATE	348/714	N116K	LYPL1_HUMAN			Transcript		benign(0.184)	.	ENSP00000355895		CCDS1522.1			1	
SEC16A	0	LGGM	GRCh37	9	139360449	139360449	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	14	3	.	.	ENST00000313050.7:c.4268A>C	p.Tyr1423Ser	p.Y1423S	ENST00000313050	NM_014866.1	1423	tAc/tCc	0	1	1	UPI0000F0888B	0	NA	ENST00000313050		ENSG00000148396	29006	0.000958	17	2.095		HGNC	p.Y1423S	rs779866811,COSM1287803,COSM1287802	SEC16A	0.000243	SNV				0.00514		0,1,1	ENST00000313050	protein_coding	getma.org/?cm=var&var=hg19,9,139360449,T,G&fts=all		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF7		Y/S		G	medium	4342/8806	0.00345	getma.org/?cm=msa&ty=f&p=SC16A_HUMAN&rb=1092&re=1269&var=Y1245S	deleterious(0)	J3KNL6_HUMAN,G1UI25_HUMAN,A0PJ75_HUMAN			YES	SEC16A,missense_variant,p.Tyr1423Ser,ENST00000313050,NM_014866.1;SEC16A,missense_variant,p.Tyr1245Ser,ENST00000371706,NM_001276418.1;SEC16A,missense_variant,p.Tyr1245Ser,ENST00000290037,;SEC16A,missense_variant,p.Tyr1245Ser,ENST00000431893,;SEC16A,missense_variant,p.Tyr145Ser,ENST00000453963,;SEC16A,upstream_gene_variant,,ENST00000277537,;SEC16A,non_coding_transcript_exon_variant,,ENST00000472305,;	0.00165				0,1,1		MODERATE	4268/7074	Y1245S		0.0156		Transcript		possibly_damaging(0.892)	common_variant	ENSP00000325827	0.00435	CCDS55351.1	0.00833		1	
PM20D2	0	LGGM	GRCh37	6	89862808	89862808	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	36	3	.	.	ENST00000275072.4:c.661C>A	p.Pro221Thr	p.P221T	ENST00000275072	NM_001010853.2	221	Ccc/Acc	0	1	1	UPI0000160C07	0	getma.org/pdb.php?prot=P20D2_HUMAN&from=204&to=301&var=P221T	ENST00000275072		ENSG00000146281	21408		39	3.245		HGNC	p.P221T		PM20D2		SNV							ENST00000275072	protein_coding	getma.org/?cm=var&var=hg19,6,89862808,C,A&fts=all		Gene3D:3.30.70.360,Pfam_domain:PF01546,Pfam_domain:PF07687,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF2,Superfamily_domains:SSF55031		P/T		A	medium	756/4708		getma.org/?cm=msa&ty=f&p=P20D2_HUMAN&rb=204&re=301&var=P221T	tolerated(0.06)				YES	PM20D2,missense_variant,p.Pro221Thr,ENST00000275072,NM_001010853.2;							MODERATE	661/1311	P221T	P20D2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000275072		CCDS34499.1			1	
ANKRD53	0	LGGM	GRCh37	2	71211294	71211294	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	26	3	.	.	ENST00000360589.3:c.904-447C>A		*302*	ENST00000360589	NM_001115116.1			0	1	1	UPI000013D952	0		ENST00000360589		ENSG00000144031	25691		29			HGNC	p.P226P		ANKRD53		SNV							ENST00000441349	protein_coding							A		-/1666							YES	ANKRD53,synonymous_variant,p.=,ENST00000272421,NM_024933.3;ANKRD53,synonymous_variant,p.=,ENST00000441349,;AC007040.11,intron_variant,,ENST00000606025,;ANKRD53,intron_variant,,ENST00000457410,;ANKRD53,intron_variant,,ENST00000360589,NM_001115116.1;TEX261,downstream_gene_variant,,ENST00000272438,NM_144582.2;TEX261,downstream_gene_variant,,ENST00000466731,;ANKRD53,non_coding_transcript_exon_variant,,ENST00000460927,;AC007040.11,intron_variant,,ENST00000453130,;TEX261,downstream_gene_variant,,ENST00000478068,;TEX261,downstream_gene_variant,,ENST00000433258,;ANKRD53,downstream_gene_variant,,ENST00000496088,;ANKRD53,downstream_gene_variant,,ENST00000483334,;							MODIFIER	-/1593		ANR53_HUMAN			Transcript			.	ENSP00000353796		CCDS46321.1			1	
XYLT2	0	LGGM	GRCh37	17	48432311	48432311	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	26	3	.	.	ENST00000017003.2:c.901G>A	p.Ala301Thr	p.A301T	ENST00000017003	NM_022167.2	301	Gcc/Acc	0	1	1	UPI000013C536	0	getma.org/pdb.php?prot=XYLT2_HUMAN&from=234&to=489&var=A301T	ENST00000017003		ENSG00000015532	15517		29	1.83		HGNC	p.A301T		XYLT2		SNV							ENST00000017003	protein_coding	getma.org/?cm=var&var=hg19,17,48432311,G,A&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF79,Pfam_domain:PF02485		A/T		A	low	950/3507		getma.org/?cm=msa&ty=f&p=XYLT2_HUMAN&rb=234&re=489&var=A301T	deleterious(0)				YES	XYLT2,missense_variant,p.Ala301Thr,ENST00000017003,NM_022167.2;XYLT2,missense_variant,p.Ala301Thr,ENST00000507602,;XYLT2,upstream_gene_variant,,ENST00000574840,;XYLT2,downstream_gene_variant,,ENST00000509778,;XYLT2,missense_variant,p.Ala301Thr,ENST00000376550,;XYLT2,upstream_gene_variant,,ENST00000571021,;XYLT2,upstream_gene_variant,,ENST00000511654,;							MODERATE	901/2598	A301T	XYLT2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000017003		CCDS11563.1			1	
PCDHAC1	0	LGGM	GRCh37	5	140306676	140306676	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	10	3	.	.	ENST00000253807.2:c.199G>A	p.Gly67Arg	p.G67R	ENST00000253807	NM_018898.3	67	Ggg/Agg	0	1	1	UPI000013CDF7	0	getma.org/pdb.php?prot=PCDC1_HUMAN&from=20&to=103&var=G67R	ENST00000253807		ENSG00000248383	8676		13	0.65		HGNC	p.G67R		PCDHAC1		SNV							ENST00000409700	protein_coding	getma.org/?cm=var&var=hg19,5,140306676,G,A&fts=all		Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,SMART_domains:SM00112		G/R		A	neutral	199/5299		getma.org/?cm=msa&ty=f&p=PCDC1_HUMAN&rb=20&re=103&var=G67R	tolerated(0.11)				YES	PCDHAC1,missense_variant,p.Gly67Arg,ENST00000253807,NM_018898.3;PCDHAC1,missense_variant,p.Gly67Arg,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;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;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,;							MODERATE	199/2892	G67R	PCDC1_HUMAN			Transcript		benign(0.125)	.	ENSP00000253807		CCDS4241.1			1	
MS4A10	0	LGGM	GRCh37	11	60557879	60557879	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	37	3	.	.	ENST00000308287.1:c.71C>A	p.Pro24Gln	p.P24Q	ENST00000308287	NM_206893.3	24	cCa/cAa	0	1	1	UPI000023754A	0	NA	ENST00000308287		ENSG00000172689	13368		40	0.895		HGNC	p.P24Q		MS4A10		SNV							ENST00000308287	protein_coding	getma.org/?cm=var&var=hg19,11,60557879,C,A&fts=all		hmmpanther:PTHR23320:SF5,hmmpanther:PTHR23320		P/Q		A	low	167/2296		getma.org/?cm=msa&ty=f&p=M4A10_HUMAN&rb=1&re=58&var=P24Q	tolerated(0.09)				YES	MS4A10,missense_variant,p.Pro24Gln,ENST00000308287,NM_206893.3;							MODERATE	71/804	P24Q	M4A10_HUMAN			Transcript		benign(0.018)	.	ENSP00000311862		CCDS7992.1			1	
KCNH7	0	LGGM	GRCh37	2	163228543	163228543	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	23	3	.	.	ENST00000332142.5:c.3387G>T	p.Gly1129=	p.G1129=	ENST00000332142	NM_033272.3	1129	ggG/ggT	0	1	1	UPI0000167D11	0		ENST00000332142		ENSG00000184611	18863		26			HGNC	p.G1129G		KCNH7		SNV							ENST00000332142	protein_coding			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466		G		A		3487/4113							YES	KCNH7,synonymous_variant,p.=,ENST00000332142,NM_033272.3;GCA,downstream_gene_variant,,ENST00000414723,;							LOW	3387/3591		KCNH7_HUMAN			Transcript			.	ENSP00000331727		CCDS2219.1			1	
MYD88	0	LGGM	GRCh37	3	38182722	38182722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	39	3	.	.	ENST00000396334.3:c.875C>A	p.Pro292His	p.P292H	ENST00000396334	NM_002468.4	292	cCc/cAc	0	1	1	UPI0000E5A580	0	getma.org/pdb.php?prot=MYD88_HUMAN&from=163&to=292&var=P279H	ENST00000417037		ENSG00000172936	7562		42	2.48		HGNC	p.P300H		MYD88		SNV			1				ENST00000417037	protein_coding	getma.org/?cm=var&var=hg19,3,38182722,C,A&fts=all		Gene3D:3.40.50.10140,Pfam_domain:PF01582,PIRSF_domain:PIRSF037756,PROSITE_profiles:PS50104,hmmpanther:PTHR15079,hmmpanther:PTHR15079:SF2,SMART_domains:SM00255,Superfamily_domains:SSF52200		P/H		A	medium	1083/2871		getma.org/?cm=msa&ty=f&p=MYD88_HUMAN&rb=163&re=292&var=P279H	deleterious(0)	J3KQJ6_HUMAN,H0Y4G9_HUMAN			YES	MYD88,missense_variant,p.Pro300His,ENST00000417037,NM_001172567.1;MYD88,missense_variant,p.Pro292His,ENST00000396334,NM_002468.4;MYD88,missense_variant,p.Pro299His,ENST00000421516,;MYD88,missense_variant,p.Pro247His,ENST00000424893,NM_001172568.1;MYD88,3_prime_UTR_variant,,ENST00000495303,NM_001172566.1;MYD88,3_prime_UTR_variant,,ENST00000443433,NM_001172569.1;ACAA1,upstream_gene_variant,,ENST00000333167,NM_001607.3;ACAA1,upstream_gene_variant,,ENST00000450296,;ACAA1,upstream_gene_variant,,ENST00000301810,NM_001130410.1;ACAA1,upstream_gene_variant,,ENST00000544624,;ACAA1,upstream_gene_variant,,ENST00000444607,;ACAA1,upstream_gene_variant,,ENST00000421218,;MYD88,non_coding_transcript_exon_variant,,ENST00000481122,;MYD88,non_coding_transcript_exon_variant,,ENST00000463956,;MYD88,non_coding_transcript_exon_variant,,ENST00000484513,;MYD88,non_coding_transcript_exon_variant,,ENST00000416282,;ACAA1,upstream_gene_variant,,ENST00000411549,;ACAA1,upstream_gene_variant,,ENST00000440176,;MYD88,downstream_gene_variant,,ENST00000460295,;ACAA1,upstream_gene_variant,,ENST00000447223,;ACAA1,upstream_gene_variant,,ENST00000423611,;ACAA1,upstream_gene_variant,,ENST00000418880,;ACAA1,upstream_gene_variant,,ENST00000484284,;ACAA1,upstream_gene_variant,,ENST00000489559,;ACAA1,upstream_gene_variant,,ENST00000460424,;							MODERATE	899/954	P279H				Transcript		probably_damaging(0.967)	.	ENSP00000401399		CCDS54565.1			1	
MTTP	0	LGGM	GRCh37	4	100534098	100534098	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	28	3	.	.	ENST00000457717.1:c.2018C>A	p.Ala673Asp	p.A673D	ENST00000457717	NM_000253.2	673	gCc/gAc	0	1		UPI000012F826	0	NA	ENST00000265517		ENSG00000138823	7467		31	0.895		HGNC	p.A673D		MTTP		SNV			1				ENST00000265517	protein_coding	getma.org/?cm=var&var=hg19,4,100534098,C,A&fts=all		hmmpanther:PTHR13024,hmmpanther:PTHR13024:SF1		A/D		A	low	2221/4037		getma.org/?cm=msa&ty=f&p=MTP_HUMAN&rb=584&re=783&var=A673D	deleterious(0.02)					MTTP,missense_variant,p.Ala673Asp,ENST00000457717,NM_000253.2;MTTP,missense_variant,p.Ala673Asp,ENST00000265517,;MTTP,missense_variant,p.Ala700Asp,ENST00000511045,;RP11-766F14.1,intron_variant,,ENST00000508578,;							MODERATE	2018/2685	A673D	MTP_HUMAN			Transcript		benign(0.13)	.	ENSP00000265517		CCDS3651.1			1	
DPP8	0	LGGM	GRCh37	15	65804902	65804902	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	45	4	.	.	ENST00000341861.5:c.38G>T	p.Gly13Val	p.G13V	ENST00000341861	NM_197960.2	13	gGa/gTa	0	1	1	UPI00001BFAFE	0	NA	ENST00000341861		ENSG00000074603	16490		49	0		HGNC	p.G13V		DPP8		SNV							ENST00000321118	protein_coding	getma.org/?cm=var&var=hg19,15,65804902,C,A&fts=all		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF98		G/V		A	neutral	1619/8699		getma.org/?cm=msa&ty=f&p=DPP8_HUMAN&rb=1&re=172&var=G13V	deleterious_low_confidence(0.02)	H0YN53_HUMAN,H0YMV1_HUMAN			YES	DPP8,missense_variant,p.Gly13Val,ENST00000341861,NM_197960.2;DPP8,missense_variant,p.Gly13Val,ENST00000321147,NM_197961.2;DPP8,missense_variant,p.Gly13Val,ENST00000321118,;DPP8,missense_variant,p.Gly13Val,ENST00000559233,;DPP8,missense_variant,p.Gly13Val,ENST00000339244,;DPP8,missense_variant,p.Gly7Val,ENST00000558529,;DPP8,missense_variant,p.Gly13Val,ENST00000560436,;DPP8,splice_region_variant,,ENST00000300141,NM_130434.3;DPP8,splice_region_variant,,ENST00000358939,NM_017743.4;DPP8,splice_region_variant,,ENST00000559526,;DPP8,splice_region_variant,,ENST00000560665,;DPP8,splice_region_variant,,ENST00000560194,;DPP8,missense_variant,p.Gly13Val,ENST00000395652,;							MODERATE	38/2697	G13V	DPP8_HUMAN			Transcript		benign(0.193)	.	ENSP00000339208		CCDS10207.1			1	
MAP3K11	0	LGGM	GRCh37	11	65375415	65375415	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	8	4	.	.	ENST00000309100.3:c.1047G>A	p.Glu349=	p.E349=	ENST00000309100	NM_002419.3	349	gaG/gaA	0	1	1	UPI0000049BF7	0		ENST00000309100		ENSG00000173327	6850		12			HGNC	p.E94E		MAP3K11		SNV							ENST00000524848	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF329,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00220,PIRSF_domain:PIRSF000556,Superfamily_domains:SSF56112,Prints_domain:PR00109		E		T		1533/3566				E9PLB1_HUMAN,E9PID4_HUMAN,B4DS76_HUMAN			YES	MAP3K11,synonymous_variant,p.=,ENST00000309100,NM_002419.3;MAP3K11,synonymous_variant,p.=,ENST00000530153,;MAP3K11,synonymous_variant,p.=,ENST00000526293,;MAP3K11,synonymous_variant,p.=,ENST00000529839,;MAP3K11,upstream_gene_variant,,ENST00000532507,;MAP3K11,upstream_gene_variant,,ENST00000534432,;MAP3K11,synonymous_variant,p.=,ENST00000524848,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000524856,;MAP3K11,non_coding_transcript_exon_variant,,ENST00000530949,;MAP3K11,downstream_gene_variant,,ENST00000527304,;MAP3K11,downstream_gene_variant,,ENST00000534110,;MAP3K11,upstream_gene_variant,,ENST00000526647,;MAP3K11,upstream_gene_variant,,ENST00000533032,;							LOW	1047/2544		M3K11_HUMAN			Transcript			.	ENSP00000309597		CCDS8107.1			1	
ESRRB	0	LGGM	GRCh37	14	76905916	76905916	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	14	4	.	.	ENST00000380887.2:c.220A>G	p.Lys74Glu	p.K74E	ENST00000380887		74	Aag/Gag	0	1	1	UPI000003157B	0	NA	ENST00000380887		ENSG00000119715	3473		18	1.7		HGNC	p.K74E		ESRRB		SNV			1				ENST00000380887	protein_coding	getma.org/?cm=var&var=hg19,14,76905916,A,G&fts=all		hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF23,PIRSF_domain:PIRSF002527,PIRSF_domain:PIRSF500939		K/E		G	low	292/2713		getma.org/?cm=msa&ty=f&p=ERR2_HUMAN&rb=1&re=89&var=K74E	deleterious(0.04)	Q9HCB2_HUMAN			YES	ESRRB,missense_variant,p.Lys74Glu,ENST00000380887,;ESRRB,missense_variant,p.Lys74Glu,ENST00000509242,NM_004452.3;ESRRB,missense_variant,p.Lys79Glu,ENST00000512784,;ESRRB,missense_variant,p.Lys74Glu,ENST00000261532,;ESRRB,missense_variant,p.Lys74Glu,ENST00000556177,;ESRRB,non_coding_transcript_exon_variant,,ENST00000507951,;ESRRB,upstream_gene_variant,,ENST00000509323,;ESRRB,missense_variant,p.Lys74Glu,ENST00000505752,;							MODERATE	220/1527	K74E	ERR2_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000370270		CCDS9850.2			1	
PPP3R1	0	LGGM	GRCh37	2	68483231	68483231	+	intron_variant,NMD_transcript_variant	Intron	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	13	4	.	.	ENST00000406334.3:c.-177-2962C>A		*59*	ENST00000406334				0	1	1	UPI00000012AE	0		ENST00000234310		ENSG00000221823	9317		17		3568	HGNC	p.P6Q		PPP3R1		SNV							ENST00000409752	protein_coding							T		-/3023				F6U1T9_HUMAN			YES	PPP3R1,missense_variant,p.Pro6Gln,ENST00000409752,;PPP3R1,upstream_gene_variant,,ENST00000234310,NM_000945.3;PPP3R1,upstream_gene_variant,,ENST00000409377,;RP11-474G23.3,downstream_gene_variant,,ENST00000608069,;RP11-474G23.1,intron_variant,,ENST00000406334,;							MODIFIER	-/513		CANB1_HUMAN			Transcript			.	ENSP00000234310		CCDS46310.1			1	
BPI	0	LGGM	GRCh37	20	36932602	36932602	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	50	4	.	.	ENST00000262865.4:c.-12C>T		*4*	ENST00000262865	NM_001725.2			0	1	1	UPI000013D349	0		ENST00000262865		ENSG00000101425	1095		54			HGNC	p.Q80X		BPI		SNV							ENST00000418004	protein_coding							T		78/1874				B4DKH6_HUMAN			YES	BPI,stop_gained,p.Gln80Ter,ENST00000418004,;BPI,5_prime_UTR_variant,,ENST00000262865,NM_001725.2;CTD-2308N23.2,intron_variant,,ENST00000437016,;							MODIFIER	-/1464		BPI_HUMAN			Transcript			.	ENSP00000262865		CCDS13303.1			1	
NKTR	0	LGGM	GRCh37	3	42678905	42678905	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	91	4	.	.	ENST00000232978.8:c.1709C>A	p.Thr570Lys	p.T570K	ENST00000232978	NM_005385.3	570	aCa/aAa	0	1	1	UPI00001301FD	0	NA	ENST00000232978		ENSG00000114857	7833		95	0.55		HGNC	p.T570K		NKTR		SNV							ENST00000232978	protein_coding	getma.org/?cm=var&var=hg19,3,42678905,C,A&fts=all				T/K		A	neutral	1897/7337		getma.org/?cm=msa&ty=f&p=NKTR_HUMAN&rb=567&re=605&var=T570K	deleterious_low_confidence(0.01)				YES	NKTR,missense_variant,p.Thr570Lys,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,,ENST00000465584,;NKTR,downstream_gene_variant,,ENST00000498730,;NKTR,downstream_gene_variant,,ENST00000460807,;NKTR,downstream_gene_variant,,ENST00000508351,;NKTR,downstream_gene_variant,,ENST00000472127,;NKTR,downstream_gene_variant,,ENST00000472258,;NKTR,downstream_gene_variant,,ENST00000464315,;							MODERATE	1709/4389	T570K	NKTR_HUMAN			Transcript		benign(0.154)	.	ENSP00000232978		CCDS2702.1			1	
MYH11	0	LGGM	GRCh37	16	15811072	15811072	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	7	5	.	.	ENST00000396324.3:c.5450C>T	p.Ser1817Phe	p.S1817F	ENST00000396324	NM_001040114.1	1817	tCc/tTc	0	1		UPI000012FB86	0	NA	ENST00000300036		ENSG00000133392	7569		12	2.525		HGNC	p.S1817F		MYH11		SNV			1				ENST00000396324	protein_coding	getma.org/?cm=var&var=hg19,16,15811072,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335		S/F		A	medium	5539/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=1073&re=1930&var=S1810F		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Ser1817Phe,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Ser1817Phe,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Ser1810Phe,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Ser1810Phe,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,;							MODERATE	5429/5919	S1810F	MYH11_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000300036		CCDS10565.1			1	
KANK4	0	LGGM	GRCh37	1	62740029	62740029	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	16	5	.	.	ENST00000371153.4:c.747C>T	p.Gly249=	p.G249=	ENST00000371153	NM_181712.4	249	ggC/ggT	0	1	1	UPI000022AE73	0		ENST00000371153		ENSG00000132854	27263		21			HGNC	p.G249G		KANK4		SNV							ENST00000371153	protein_coding			hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20		G		A		1126/4665				B1ALP6_HUMAN,B1ALP5_HUMAN			YES	KANK4,synonymous_variant,p.=,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;							LOW	747/2988		KANK4_HUMAN			Transcript			.	ENSP00000360195		CCDS620.1			1	
TP53	0	LGGM	GRCh37	17	7574003	7574003	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	8	5	.	.	ENST00000269305.4:c.1024C>T	p.Arg342Ter	p.R342*	ENST00000269305	NM_001126112.2	342	Cga/Tga	0	1	1	UPI000002ED67	0	NA	ENST00000269305	pathogenic	ENSG00000141510	11998		13	0		HGNC	p.R342X	rs730882029,TP53_g.16915C>T,COSM11073,COSM99721	TP53		SNV			1			1,0,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7574003,G,A&fts=all		Gene3D:1olgA00,Pfam_domain:PF07710,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF47719		R/*		A	NA	1214/2579		NA		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			YES	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,;					0,0,1,1		HIGH	1024/1182	R342*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
ARMCX2	0	LGGM	GRCh37	X	100911948	100911948	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	9	5	.	.	ENST00000328766.5:c.627C>T	p.Pro209=	p.P209=	ENST00000328766	NM_014782.5	209	ccC/ccT	0	1	1	UPI0000071305	0		ENST00000328766		ENSG00000184867	16869		14			HGNC	p.P209P	rs782556246	ARMCX2	9.98E-05	SNV							ENST00000328766	protein_coding			hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712		P		A		1081/2762	2.19E-05			Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN			YES	ARMCX2,synonymous_variant,p.=,ENST00000328766,NM_014782.5;ARMCX2,synonymous_variant,p.=,ENST00000356824,NM_177949.2;ARMCX2,synonymous_variant,p.=,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,;	0.000154						LOW	627/1899		ARMX2_HUMAN			Transcript			.	ENSP00000331662	4.12E-05	CCDS14490.1			1	
GPAM	0	LGGM	GRCh37	10	113919805	113919805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	25	5	.	.	ENST00000348367.4:c.1766G>T	p.Ser589Ile	p.S589I	ENST00000348367		589	aGc/aTc	0	1	1	UPI000004AC02	0	NA	ENST00000348367		ENSG00000119927	24865		30	1.845		HGNC	p.S589I		GPAM		SNV							ENST00000369425	protein_coding	getma.org/?cm=var&var=hg19,10,113919805,C,A&fts=all		PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500064,hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF2		S/I		A	low	1964/6369		getma.org/?cm=msa&ty=f&p=GPAT1_HUMAN&rb=556&re=755&var=S589I	deleterious(0)	Q6ZMG4_HUMAN			YES	GPAM,missense_variant,p.Ser589Ile,ENST00000348367,;GPAM,missense_variant,p.Ser589Ile,ENST00000423155,NM_020918.5,NM_001244949.1;GPAM,missense_variant,p.Ser589Ile,ENST00000369425,;							MODERATE	1766/2487	S589I	GPAT1_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000265276		CCDS7570.1			1	
HELQ	0	LGGM	GRCh37	4	84328659	84328659	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	20	5	.	.	ENST00000295488.3:c.3253A>T	p.Arg1085Ter	p.R1085*	ENST00000295488	NM_133636.2	1085	Aga/Tga	0	1	1	UPI000013E25F	0	NA	ENST00000295488		ENSG00000163312	18536		25	0		HGNC	p.R1085X		HELQ		SNV							ENST00000295488	protein_coding	getma.org/?cm=var&var=hg19,4,84328659,T,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11752:SF57,hmmpanther:PTHR11752		R/*		A	NA	3416/3579		NA					YES	HELQ,stop_gained,p.Arg1085Ter,ENST00000295488,NM_133636.2;HELQ,stop_gained,p.Arg1018Ter,ENST00000510985,;HELQ,non_coding_transcript_exon_variant,,ENST00000512539,;HELQ,3_prime_UTR_variant,,ENST00000508591,;							HIGH	3253/3306	R1085*	HELQ_HUMAN			Transcript			.	ENSP00000295488		CCDS3603.1			1	
GPAM	0	LGGM	GRCh37	10	113919804	113919804	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	26	5	.	.	ENST00000348367.4:c.1767C>T	p.Ser589=	p.S589=	ENST00000348367		589	agC/agT	0	1	1	UPI000004AC02	0		ENST00000348367		ENSG00000119927	24865		31			HGNC	p.S589S		GPAM		SNV							ENST00000369425	protein_coding			PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500064,hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF2		S		A		1965/6369				Q6ZMG4_HUMAN			YES	GPAM,synonymous_variant,p.=,ENST00000348367,;GPAM,synonymous_variant,p.=,ENST00000423155,NM_020918.5,NM_001244949.1;GPAM,synonymous_variant,p.=,ENST00000369425,;							LOW	1767/2487		GPAT1_HUMAN			Transcript			.	ENSP00000265276		CCDS7570.1			1	
RBM10	0	LGGM	GRCh37	X	47041220	47041220	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	15	6	.	.	ENST00000329236.7:c.1414C>T	p.Pro472Ser	p.P472S	ENST00000329236	NM_001204466.1	472	Cca/Tca	0	1	1	UPI0000070DF1	0	NA	ENST00000377604		ENSG00000182872	9896		21	0.41		HGNC	p.P550S		RBM10		SNV			1				ENST00000377604	protein_coding	getma.org/?cm=var&var=hg19,X,47041220,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13948:SF4,hmmpanther:PTHR13948		P/S		T	neutral	2390/3747		getma.org/?cm=msa&ty=f&p=RBM10_HUMAN&rb=379&re=578&var=P550S	tolerated(0.23)				YES	RBM10,missense_variant,p.Pro550Ser,ENST00000377604,NM_001204468.1,NM_001204467.1,NM_005676.4;RBM10,missense_variant,p.Pro472Ser,ENST00000329236,NM_001204466.1,NM_152856.2;RBM10,missense_variant,p.Pro473Ser,ENST00000345781,;RBM10,downstream_gene_variant,,ENST00000478410,;RBM10,downstream_gene_variant,,ENST00000496012,;							MODERATE	1648/2793	P550S	RBM10_HUMAN			Transcript		benign(0.003)	.	ENSP00000366829		CCDS14274.1			1	
MUC2	0	LGGM	GRCh37	11	1083798	1083798	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	6	6	.	.	ENST00000441003.2:c.2330C>G	p.Ser777Trp	p.S777W	ENST00000441003	NM_002457.2	777	tCg/tGg	0	1	1	UPI00006C10F2	0	NA	ENST00000441003		ENSG00000198788	7512		12	1.04		HGNC	p.S777W		MUC2		SNV							ENST00000441003	protein_coding	getma.org/?cm=var&var=hg19,11,1083798,C,G&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Gene3D:2.10.25.10,Superfamily_domains:SSF57567		S/W		G	low	2357/8637		getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=656&re=855&var=S777W		Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Ser777Trp,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Ser777Trp,ENST00000359061,;							MODERATE	2330/8454	S777W				Transcript		probably_damaging(0.952)	.	ENSP00000415183					1	
GRK6	0	LGGM	GRCh37	5	176863511	176863511	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	7	7	.	.	ENST00000528793.1:c.1384G>T	p.Glu462Ter	p.E462*	ENST00000528793		462	Gag/Tag	0	1		UPI000012BADE	0	NA	ENST00000355472		ENSG00000198055	4545		14	0		HGNC	p.E462X		GRK6		SNV							ENST00000528793	protein_coding	getma.org/?cm=var&var=hg19,5,176863511,G,T&fts=all		Gene3D:1.10.510.10,PROSITE_profiles:PS51285,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF15,SMART_domains:SM00133,Superfamily_domains:SSF56112		E/*		T	NA	1552/2939		NA		D6RHC7_HUMAN,D6RDA3_HUMAN,D6R9V4_HUMAN				GRK6,stop_gained,p.Glu462Ter,ENST00000355472,NM_002082.3,NM_001004106.2;GRK6,stop_gained,p.Glu428Ter,ENST00000393576,;GRK6,stop_gained,p.Glu462Ter,ENST00000528793,;GRK6,stop_gained,p.Glu462Ter,ENST00000355958,NM_001004105.2;GRK6,stop_gained,p.Glu462Ter,ENST00000507633,;GRK6,downstream_gene_variant,,ENST00000506296,;GRK6,downstream_gene_variant,,ENST00000502598,;GRK6,downstream_gene_variant,,ENST00000511244,;PRR7-AS1,downstream_gene_variant,,ENST00000425316,;GRK6,non_coding_transcript_exon_variant,,ENST00000515666,;GRK6,downstream_gene_variant,,ENST00000508705,;							HIGH	1384/1731	E462*	GRK6_HUMAN			Transcript			.	ENSP00000347655		CCDS34303.1			1	
ALPK1	0	LGGM	GRCh37	4	113353219	113353219	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	9	7	.	.	ENST00000458497.1:c.2516T>G	p.Val839Gly	p.V839G	ENST00000458497	NM_001102406.1	839	gTc/gGc	0	1		UPI000045725F	0	NA	ENST00000177648		ENSG00000073331	20917		16	1.935		HGNC	p.V761G		ALPK1		SNV							ENST00000504176	protein_coding	getma.org/?cm=var&var=hg19,4,113353219,T,G&fts=all		hmmpanther:PTHR14187:SF30,hmmpanther:PTHR14187		V/G		G	medium	2716/4537		getma.org/?cm=msa&ty=f&p=ALPK1_HUMAN&rb=531&re=963&var=V839G	deleterious(0.03)					ALPK1,missense_variant,p.Val839Gly,ENST00000458497,NM_001102406.1,NM_025144.3;ALPK1,missense_variant,p.Val839Gly,ENST00000177648,;ALPK1,missense_variant,p.Val761Gly,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,;							MODERATE	2516/3735	V839G	ALPK1_HUMAN			Transcript		benign(0.001)	.	ENSP00000177648		CCDS3697.1			1	
TIAM2	0	LGGM	GRCh37	6	155450459	155450459	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	20	7	.	.	ENST00000461783.3:c.102C>T	p.Gly34=	p.G34=	ENST00000461783		34	ggC/ggT	0	1		UPI00004DF8BE	0		ENST00000318981		ENSG00000146426	11806		27			HGNC	p.G34G		TIAM2		SNV							ENST00000535231	protein_coding					G		T		310/5916				F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,synonymous_variant,p.=,ENST00000461783,;TIAM2,synonymous_variant,p.=,ENST00000456144,;TIAM2,synonymous_variant,p.=,ENST00000318981,NM_012454.3;TIAM2,synonymous_variant,p.=,ENST00000360366,;TIAM2,synonymous_variant,p.=,ENST00000529824,;TIAM2,synonymous_variant,p.=,ENST00000528535,;TIAM2,synonymous_variant,p.=,ENST00000535583,;TIAM2,synonymous_variant,p.=,ENST00000538270,;TIAM2,synonymous_variant,p.=,ENST00000535231,;TIAM2,synonymous_variant,p.=,ENST00000545347,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;							LOW	102/5106		TIAM2_HUMAN			Transcript			.	ENSP00000327315		CCDS34558.1			1	
GALNT5	0	LGGM	GRCh37	2	158115070	158115070	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	17	7	.	.	ENST00000259056.4:c.476C>A	p.Thr159Lys	p.T159K	ENST00000259056	NM_014568.1	159	aCa/aAa	0	1	1	UPI000019AD19	0	NA	ENST00000259056		ENSG00000136542	4127		24	0.55		HGNC	p.T159K		GALNT5		SNV							ENST00000259056	protein_coding	getma.org/?cm=var&var=hg19,2,158115070,C,A&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16		T/K		A	neutral	961/6171		getma.org/?cm=msa&ty=f&p=GALT5_HUMAN&rb=1&re=389&var=T159K	tolerated(0.75)	Q68VJ5_HUMAN			YES	GALNT5,missense_variant,p.Thr159Lys,ENST00000259056,NM_014568.1;							MODERATE	476/2823	T159K	GALT5_HUMAN			Transcript		benign(0.005)	.	ENSP00000259056		CCDS2203.1			1	
COL4A2	0	LGGM	GRCh37	13	111117886	111117886	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	3	7	.	.	ENST00000360467.5:c.1911C>T	p.Asp637=	p.D637=	ENST00000360467	NM_001846.2	637	gaC/gaT	0	1	1	UPI000041C713	0		ENST00000360467		ENSG00000134871	2203		10			HGNC	p.D637D	rs764883197,COSM945363	COL4A2		SNV			1			0,1	ENST00000360467	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023		D		T		2217/6281	6.10E-05			A2A352_HUMAN			YES	COL4A2,synonymous_variant,p.=,ENST00000360467,NM_001846.2;COL4A2-AS2,upstream_gene_variant,,ENST00000458403,;COL4A2,upstream_gene_variant,,ENST00000494852,;COL4A2,downstream_gene_variant,,ENST00000478681,;					0,1		LOW	1911/5139		CO4A2_HUMAN			Transcript			.	ENSP00000353654	3.31E-05	CCDS41907.1			1	
PER3	0	LGGM	GRCh37	1	7889973	7890026	+	inframe_deletion	In_Frame_Del	DEL	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	-	novel	by Submitter	H093624	H093624N.bam	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	16	7	.	.	ENST00000361923.2:c.3019_3072del	p.Ala1007_Ser1024del	p.A1007_S1024del	ENST00000361923	NM_016831.1	980	gAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAag/gag	0	1	1	UPI0000167B1D	0		ENST00000361923		ENSG00000049246	8847		23			HGNC	p.980_998del	TMP_ESP_1_7889973_7890026	PER3		deletion	-:0.1317						ENST00000361923	protein_coding			Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		ENPSHPTASALSTGSPPMK/E	-:0.1768	-		3114-3167/6203				Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,inframe_deletion,p.Ala1016_Ser1033del,ENST00000377532,;PER3,inframe_deletion,p.Ala1007_Ser1024del,ENST00000361923,NM_016831.1;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;							MODERATE	2939-2992/3606		PER3_HUMAN			Transcript	80		.	ENSP00000355031		CCDS89.1			1	
C8orf34	0	LGGM	GRCh37	8	69381056	69381056	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	34	8	.	.	ENST00000518698.1:c.736+1G>T		p.X246_splice	ENST00000518698	NM_052958.2			0	1	1	UPI000021D12D	0		ENST00000518698		ENSG00000165084	30905		42			HGNC	-		C8orf34		SNV							ENST00000539993	protein_coding							T		-/2223							YES	C8orf34,splice_donor_variant,,ENST00000337103,;C8orf34,splice_donor_variant,,ENST00000348340,NM_001195639.1;C8orf34,splice_donor_variant,,ENST00000518698,NM_052958.2;C8orf34,splice_donor_variant,,ENST00000539993,;C8orf34,intron_variant,,ENST00000349492,;C8orf34,splice_donor_variant,,ENST00000521406,;							HIGH	736/1617		CH034_HUMAN			Transcript			.	ENSP00000427820		CCDS6203.2			1	
ACACB	0	LGGM	GRCh37	12	109625902	109625902	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	13	8	.	.	ENST00000338432.7:c.2079C>G	p.His693Gln	p.H693Q	ENST00000338432		693	caC/caG	0	1	1	UPI0000DBEEFB	0	getma.org/pdb.php?prot=ACACB_HUMAN&from=650&to=757&var=H693Q	ENST00000338432		ENSG00000076555	85		21	3.18		HGNC	p.H693Q		ACACB		SNV							ENST00000377848	protein_coding	getma.org/?cm=var&var=hg19,12,109625902,C,G&fts=all		Gene3D:3.30.470.20,Pfam_domain:PF02785,PROSITE_profiles:PS50979,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,SMART_domains:SM00878,Superfamily_domains:SSF51246		H/Q		G	medium	2198/9360		getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=650&re=757&var=H693Q	deleterious(0)	F5H5C3_HUMAN,E9PEW7_HUMAN			YES	ACACB,missense_variant,p.His693Gln,ENST00000338432,;ACACB,missense_variant,p.His693Gln,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.His693Gln,ENST00000377854,;ACACB,upstream_gene_variant,,ENST00000544651,;							MODERATE	2079/7377	H693Q	ACACB_HUMAN			Transcript		benign(0.396)	.	ENSP00000341044		CCDS31898.1			1	
CAND2	0	LGGM	GRCh37	3	12858900	12858900	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	9	8	.	.	ENST00000456430.2:c.2469C>T	p.Ala823=	p.A823=	ENST00000456430	NM_001162499.1	823	gcC/gcT	0	1	1	UPI00005795FA	0		ENST00000456430		ENSG00000144712	30689		17			HGNC	p.A823A		CAND2		SNV							ENST00000456430	protein_coding			hmmpanther:PTHR12696,hmmpanther:PTHR12696:SF2,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		A		T		2510/4573							YES	CAND2,synonymous_variant,p.=,ENST00000456430,NM_001162499.1;CAND2,synonymous_variant,p.=,ENST00000295989,NM_012298.2;CAND2,downstream_gene_variant,,ENST00000446928,;							LOW	2469/3711		CAND2_HUMAN			Transcript			.	ENSP00000387641		CCDS54554.1			1	
RGL1	0	LGGM	GRCh37	1	183711358	183711358	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	46	8	.	.	ENST00000304685.4:c.66A>G	p.Val22=	p.V22=	ENST00000304685	NM_015149.3	22	gtA/gtG	0	1	1	UPI000002B24C	0		ENST00000304685		ENSG00000143344	30281		54			HGNC	p.V22V		RGL1		SNV							ENST00000536277	protein_coding					V		G		515/5100							YES	RGL1,synonymous_variant,p.=,ENST00000304685,NM_015149.3;RGL1,synonymous_variant,p.=,ENST00000536277,;							LOW	66/2412		RGL1_HUMAN			Transcript			.	ENSP00000303192		CCDS1359.1			1	
TBRG1	0	LGGM	GRCh37	11	124493124	124493124	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	7	8	.	.	ENST00000441174.3:c.145G>A	p.Val49Met	p.V49M	ENST00000441174	NM_032811.2	49	Gtg/Atg	0	1	1	UPI000059F045	0	NA	ENST00000441174		ENSG00000154144	29551		15	1.995		HGNC	p.V49M		TBRG1		SNV							ENST00000531667	protein_coding	getma.org/?cm=var&var=hg19,11,124493124,G,A&fts=all		hmmpanther:PTHR22715:SF0,hmmpanther:PTHR22715		V/M		A	medium	349/4004		getma.org/?cm=msa&ty=f&p=TBRG1_HUMAN&rb=1&re=159&var=V49M	deleterious(0)				YES	TBRG1,missense_variant,p.Val49Met,ENST00000441174,NM_032811.2;TBRG1,missense_variant,p.Val49Met,ENST00000531667,;TBRG1,5_prime_UTR_variant,,ENST00000375005,;PANX3,downstream_gene_variant,,ENST00000284288,NM_052959.2;TBRG1,upstream_gene_variant,,ENST00000438907,;TBRG1,missense_variant,p.Val49Met,ENST00000284290,;TBRG1,missense_variant,p.Val49Met,ENST00000529543,;TBRG1,missense_variant,p.Val49Met,ENST00000530731,;TBRG1,missense_variant,p.Val49Met,ENST00000452080,;TBRG1,non_coding_transcript_exon_variant,,ENST00000473629,;TBRG1,upstream_gene_variant,,ENST00000491010,;							MODERATE	145/1236	V49M	TBRG1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000409016		CCDS8448.2			1	
TMEM219	0	LGGM	GRCh37	16	29974868	29974868	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	26	8	.	.	ENST00000566848.1:c.313A>C	p.Thr105Pro	p.T105P	ENST00000566848		105	Aca/Cca	0	1		UPI000004F67E	0	NA	ENST00000279396		ENSG00000149932	25201		34	0.695		HGNC	p.T105P		TMEM219		SNV							ENST00000566848	protein_coding	getma.org/?cm=var&var=hg19,16,29974868,A,C&fts=all		hmmpanther:PTHR16002,hmmpanther:PTHR16002:SF2,Pfam_domain:PF14940		T/P		C	neutral	453/999		getma.org/?cm=msa&ty=f&p=TM219_HUMAN&rb=1&re=238&var=T105P	tolerated(0.11)	R4GNJ4_HUMAN				TMEM219,missense_variant,p.Thr105Pro,ENST00000566848,;TMEM219,missense_variant,p.Thr105Pro,ENST00000561899,;TMEM219,missense_variant,p.Thr105Pro,ENST00000414689,;TMEM219,missense_variant,p.Thr105Pro,ENST00000279396,NM_001083613.1,NM_194280.3;TMEM219,missense_variant,p.Thr50Pro,ENST00000569445,;TMEM219,missense_variant,p.Thr105Pro,ENST00000575829,;TMEM219,missense_variant,p.Thr105Pro,ENST00000602948,;TMEM219,missense_variant,p.Thr45Pro,ENST00000569481,;TMEM219,missense_variant,p.Thr96Pro,ENST00000570255,;							MODERATE	313/723	T105P	TM219_HUMAN			Transcript		benign(0.429)	.	ENSP00000279396		CCDS42145.1			1	
TPR	0	LGGM	GRCh37	1	186319521	186319521	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	9	9	.	.	ENST00000367478.4:c.2611-1G>T		p.X871_splice	ENST00000367478	NM_003292.2			0	1	1	UPI000046FCF4	0		ENST00000367478		ENSG00000047410	12017		18			HGNC	-		TPR		SNV			1				ENST00000367478	protein_coding							A		-/9708				Q9UE33_HUMAN			YES	TPR,splice_acceptor_variant,,ENST00000367478,NM_003292.2;TPR,downstream_gene_variant,,ENST00000474852,;TPR,downstream_gene_variant,,ENST00000491783,;TPR,downstream_gene_variant,,ENST00000469463,;							HIGH	2611/7092		TPR_HUMAN			Transcript			.	ENSP00000356448		CCDS41446.1			1	
MYBPH	0	LGGM	GRCh37	1	203139496	203139496	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	15	9	.	.	ENST00000255416.4:c.1016G>A	p.Arg339Gln	p.R339Q	ENST00000255416	NM_004997.2	339	cGg/cAg	0	1	1	UPI000000DA7B	0	getma.org/pdb.php?prot=MYBPH_HUMAN&from=268&to=351&var=R339Q	ENST00000255416		ENSG00000133055	7552		24	3.05		HGNC	p.R339Q	rs769884152	MYBPH		SNV							ENST00000255416	protein_coding	getma.org/?cm=var&var=hg19,1,203139496,C,T&fts=all		Prints_domain:PR00014,Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF55,hmmpanther:PTHR19900,PROSITE_profiles:PS50853		R/Q		T	medium	1074/1805	4.50E-05	getma.org/?cm=msa&ty=f&p=MYBPH_HUMAN&rb=268&re=351&var=R339Q	deleterious(0.01)				YES	MYBPH,missense_variant,p.Arg339Gln,ENST00000255416,NM_004997.2;ADORA1,downstream_gene_variant,,ENST00000367236,NM_001048230.1;ADORA1,downstream_gene_variant,,ENST00000337894,NM_000674.2;ADORA1,downstream_gene_variant,,ENST00000309502,;ADORA1,downstream_gene_variant,,ENST00000367235,;ADORA1,downstream_gene_variant,,ENST00000472535,;ADORA1,downstream_gene_variant,,ENST00000467253,;ADORA1,downstream_gene_variant,,ENST00000464019,;							MODERATE	1016/1434	R339Q	MYBPH_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000255416	2.47E-05	CCDS30975.1			1	
RYR1	0	LGGM	GRCh37	19	38976480	38976480	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	22	9	.	.	ENST00000359596.3:c.5185A>G	p.Met1729Val	p.M1729V	ENST00000359596		1729	Atg/Gtg	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		31	2.38		HGNC	p.M1729V		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,38976480,A,G&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		M/V		G	medium	5185/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=1570&re=1769&var=M1729V		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Met1729Val,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Met1729Val,ENST00000360985,;RYR1,missense_variant,p.Met1729Val,ENST00000359596,;							MODERATE	5185/15117	M1729V	RYR1_HUMAN			Transcript		benign(0.248)	.	ENSP00000352608		CCDS33011.1			1	
OR52E4	0	LGGM	GRCh37	11	5905998	5905998	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	73	9	.	.	ENST00000316987.2:c.476C>T	p.Thr159Ile	p.T159I	ENST00000316987	NM_001005165.1	159	aCc/aTc	0	1	1	UPI0000041BE2	0	NA	ENST00000316987		ENSG00000180974	15213		82	-0.355		HGNC	p.T159I	rs752415258	OR52E4	0.000242	SNV							ENST00000316987	protein_coding	getma.org/?cm=var&var=hg19,11,5905998,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF13,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		T/I		T	neutral	498/1027		getma.org/?cm=msa&ty=f&p=O52E4_HUMAN&rb=141&re=286&var=T159I	tolerated(1)				YES	OR52E4,missense_variant,p.Thr159Ile,ENST00000316987,NM_001005165.1;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	476/939	T159I	O52E4_HUMAN			Transcript		benign(0.029)	.	ENSP00000321426	3.29E-05	CCDS31401.1			1	
MYO9A	0	LGGM	GRCh37	15	72252402	72252402	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	28	9	.	.	ENST00000356056.5:c.2022A>G	p.Pro674=	p.P674=	ENST00000356056	NM_006901.3	674	ccA/ccG	0	1	1	UPI000013D213	0		ENST00000356056		ENSG00000066933	7608		37			HGNC	p.P674P		MYO9A		SNV							ENST00000356056	protein_coding			PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		P		C		2495/12409				H3BSU8_HUMAN,H3BMS3_HUMAN			YES	MYO9A,synonymous_variant,p.=,ENST00000356056,NM_006901.3;MYO9A,synonymous_variant,p.=,ENST00000424560,;MYO9A,synonymous_variant,p.=,ENST00000444904,;MYO9A,synonymous_variant,p.=,ENST00000564571,;MYO9A,synonymous_variant,p.=,ENST00000566885,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567560,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563925,;MYO9A,non_coding_transcript_exon_variant,,ENST00000567095,;MYO9A,upstream_gene_variant,,ENST00000563648,;							LOW	2022/7647		MYO9A_HUMAN			Transcript			.	ENSP00000348349		CCDS10239.1			1	
ASTN2	0	LGGM	GRCh37	9	119976781	119976781	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	16	9	.	.	ENST00000361209.2:c.871G>A	p.Asp291Asn	p.D291N	ENST00000361209	NM_014010.4	291	Gat/Aat	0	1		UPI0000359605	0	NA	ENST00000313400		ENSG00000148219	17021	0.000173	25	0.695		HGNC	p.D291N	rs761215357	ASTN2		SNV							ENST00000313400	protein_coding	getma.org/?cm=var&var=hg19,9,119976781,C,T&fts=all		hmmpanther:PTHR16592,Low_complexity_(Seg):seg		D/N		T	neutral	972/4747	1.50E-05	getma.org/?cm=msa&ty=f&p=ASTN2_HUMAN&rb=201&re=400&var=D291N	deleterious_low_confidence(0)	B7ZKP3_HUMAN,B2RCB6_HUMAN				ASTN2,missense_variant,p.Asp291Asn,ENST00000313400,;ASTN2,missense_variant,p.Asp291Asn,ENST00000373996,;ASTN2,missense_variant,p.Asp291Asn,ENST00000361209,NM_014010.4;ASTN2,missense_variant,p.Asp18Asn,ENST00000373986,;ASTN2,5_prime_UTR_variant,,ENST00000361477,;							MODERATE	871/4020	D291N	ASTN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000314038	2.47E-05				1	
SEMA3A	0	LGGM	GRCh37	7	83606507	83606507	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	27	10	.	.	ENST00000265362.4:c.1658C>A	p.Thr553Lys	p.T553K	ENST00000265362	NM_006080.2	553	aCa/aAa	0	1	1	UPI0000135A60	0	getma.org/pdb.php?prot=SEM3A_HUMAN&from=499&to=698&var=T553K	ENST00000265362		ENSG00000075213	10723		37	2.015		HGNC	p.T553K		SEMA3A		SNV			1				ENST00000265362	protein_coding	getma.org/?cm=var&var=hg19,7,83606507,G,T&fts=all		hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Gene3D:3.30.1680.10,SMART_domains:SM00423,Superfamily_domains:SSF103575		T/K		T	medium	1973/8225		getma.org/?cm=msa&ty=f&p=SEM3A_HUMAN&rb=499&re=698&var=T553K	deleterious(0.04)	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN			YES	SEMA3A,missense_variant,p.Thr553Lys,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Thr553Lys,ENST00000436949,;							MODERATE	1658/2316	T553K	SEM3A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265362		CCDS5599.1			1	
AATF	0	LGGM	GRCh37	17	35307523	35307523	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	30	10	.	.	ENST00000225402.5:c.101C>T	p.Ala34Val	p.A34V	ENST00000225402	NM_012138.3	34	gCc/gTc	0	1	1	UPI000006E3DE	0	NA	ENST00000225402		ENSG00000108270	19235		40	2.465		HGNC	p.A34V		AATF		SNV							ENST00000592751	protein_coding	getma.org/?cm=var&var=hg19,17,35307523,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15565:SF0,hmmpanther:PTHR15565		A/V		T	medium	352/2141		getma.org/?cm=msa&ty=f&p=AATF_HUMAN&rb=1&re=200&var=A34V	deleterious(0)	K7ERC2_HUMAN			YES	AATF,missense_variant,p.Ala34Val,ENST00000225402,NM_012138.3;AATF,missense_variant,p.Ala34Val,ENST00000592751,;							MODERATE	101/1683	A34V	AATF_HUMAN			Transcript		unknown(0)	.	ENSP00000225402		CCDS32632.1			1	
HIF3A	0	LGGM	GRCh37	19	46832477	46832477	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	29	10	.	.	ENST00000377670.4:c.1454T>A	p.Leu485Gln	p.L485Q	ENST00000377670	NM_152795.3	485	cTg/cAg	0	1	1	UPI00002026E2	0	NA	ENST00000377670		ENSG00000124440	15825		39	1.965		HGNC	p.L485Q		HIF3A		SNV							ENST00000377670	protein_coding	getma.org/?cm=var&var=hg19,19,46832477,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23043:SF18,hmmpanther:PTHR23043,Pfam_domain:PF11413		L/Q		A	medium	1485/5852		getma.org/?cm=msa&ty=f&p=HIF3A_HUMAN&rb=477&re=510&var=L485Q	deleterious(0)	Q9UPH7_HUMAN,O95262_HUMAN,E9PB04_HUMAN			YES	HIF3A,missense_variant,p.Leu429Gln,ENST00000339613,;HIF3A,missense_variant,p.Leu485Gln,ENST00000377670,NM_152795.3;HIF3A,missense_variant,p.Leu483Gln,ENST00000300862,NM_152794.3;HIF3A,missense_variant,p.Leu416Gln,ENST00000244303,NM_022462.4;HIF3A,missense_variant,p.Leu416Gln,ENST00000600383,;HIF3A,missense_variant,p.Leu434Gln,ENST00000420102,;HIF3A,intron_variant,,ENST00000472815,NM_152796.2;AC007193.10,intron_variant,,ENST00000596807,;HIF3A,non_coding_transcript_exon_variant,,ENST00000291300,;HIF3A,non_coding_transcript_exon_variant,,ENST00000244302,;HIF3A,non_coding_transcript_exon_variant,,ENST00000529542,;HIF3A,downstream_gene_variant,,ENST00000528563,;							MODERATE	1454/2010	L485Q	HIF3A_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000366898		CCDS12681.2			1	
TXNDC16	0	LGGM	GRCh37	14	52907412	52907412	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	21	10	.	.	ENST00000281741.4:c.1873T>C	p.Tyr625His	p.Y625H	ENST00000281741	NM_020784.2	625	Tat/Cat	0	1	1	UPI000059D245	0	NA	ENST00000281741		ENSG00000087301	19965		31	2.075		HGNC	p.Y625H		TXNDC16		SNV							ENST00000281741	protein_coding	getma.org/?cm=var&var=hg19,14,52907412,A,G&fts=all		Pfam_domain:PF13848,hmmpanther:PTHR22699,hmmpanther:PTHR22699:SF1		Y/H		G	medium	2245/4564		getma.org/?cm=msa&ty=f&p=TXD16_HUMAN&rb=533&re=722&var=Y625H	deleterious(0)	G3V2S5_HUMAN,B7ZME4_HUMAN			YES	TXNDC16,missense_variant,p.Tyr625His,ENST00000281741,NM_020784.2,NM_001160047.1;TXNDC16,non_coding_transcript_exon_variant,,ENST00000554399,;							MODERATE	1873/2478	Y625H	TXD16_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000281741		CCDS32083.1			1	
CATSPERB	0	LGGM	GRCh37	14	92055973	92055973	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	25	10	.	.	ENST00000256343.3:c.2861C>A	p.Ser954Tyr	p.S954Y	ENST00000256343	NM_024764.2	954	tCt/tAt	0	1	1	UPI0000418DA1	0	NA	ENST00000256343		ENSG00000133962	20500		35	1.795		HGNC	p.S954Y		CATSPERB		SNV							ENST00000256343	protein_coding	getma.org/?cm=var&var=hg19,14,92055973,G,T&fts=all		hmmpanther:PTHR14705,Pfam_domain:PF15149		S/Y		T	low	3018/3623		getma.org/?cm=msa&ty=f&p=CTSRB_HUMAN&rb=1&re=1115&var=S954Y	tolerated(1)	G3V584_HUMAN,G3V352_HUMAN			YES	CATSPERB,missense_variant,p.Ser954Tyr,ENST00000256343,NM_024764.2;CATSPERB,3_prime_UTR_variant,,ENST00000557036,;CATSPERB,non_coding_transcript_exon_variant,,ENST00000556429,;							MODERATE	2861/3351	S954Y	CTSRB_HUMAN			Transcript		benign(0.038)	.	ENSP00000256343		CCDS32142.1			1	
COL1A2	0	LGGM	GRCh37	7	94042406	94042406	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	50	11	.	.	ENST00000297268.6:c.1515C>A	p.Gly505=	p.G505=	ENST00000297268	NM_000089.3	505	ggC/ggA	0	1	1	UPI00003B0CFC	0		ENST00000297268		ENSG00000164692	2198		61			HGNC	p.G505G		COL1A2		SNV			1				ENST00000297268	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF441,Pfam_domain:PF01391		G		A		1986/5411				Q75N18_HUMAN,A2TIK1_HUMAN			YES	COL1A2,synonymous_variant,p.=,ENST00000297268,NM_000089.3;COL1A2,upstream_gene_variant,,ENST00000497316,;COL1A2,upstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000488298,;							LOW	1515/4101		CO1A2_HUMAN			Transcript			.	ENSP00000297268		CCDS34682.1			1	
SLC26A7	0	LGGM	GRCh37	8	92307839	92307839	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	67	11	.	.	ENST00000309536.2:c.385C>A	p.Gln129Lys	p.Q129K	ENST00000309536	NM_134266.1	129	Cag/Aag	0	1		UPI0000046B1E	0	NA	ENST00000276609		ENSG00000147606	14467		78	0.69		HGNC	p.Q129K		SLC26A7		SNV							ENST00000522862	protein_coding	getma.org/?cm=var&var=hg19,8,92307839,C,A&fts=all		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF75		Q/K		A	neutral	624/5263		getma.org/?cm=msa&ty=f&p=S26A7_HUMAN&rb=116&re=161&var=Q129K	tolerated(0.86)	E5RFH2_HUMAN				SLC26A7,missense_variant,p.Gln129Lys,ENST00000276609,NM_052832.2,NM_001282356.1;SLC26A7,missense_variant,p.Gln129Lys,ENST00000523719,;SLC26A7,missense_variant,p.Gln129Lys,ENST00000309536,NM_134266.1;SLC26A7,missense_variant,p.Gln129Lys,ENST00000522862,;SLC26A7,upstream_gene_variant,,ENST00000520818,;SLC26A7,missense_variant,p.Gln129Lys,ENST00000522181,;							MODERATE	385/1971	Q129K	S26A7_HUMAN			Transcript		benign(0.013)	.	ENSP00000276609		CCDS6254.1			1	
AHCTF1	0	LGGM	GRCh37	1	247025373	247025373	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	20	11	.	.	ENST00000326225.3:c.3650G>A	p.Arg1217Gln	p.R1217Q	ENST00000326225	NM_015446.4	1217	cGa/cAa	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		31	2.135		HGNC	p.R1243Q	rs558983340	AHCTF1		SNV				9.83E-05			ENST00000366508	protein_coding	getma.org/?cm=var&var=hg19,1,247025373,C,T&fts=all	T:0.0008	hmmpanther:PTHR21583		R/Q		T	medium	3747/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=1052&re=2264&var=R1208Q	deleterious(0)	C9J5C5_HUMAN	T:0	T:0	YES	AHCTF1,missense_variant,p.Arg1243Gln,ENST00000366508,;AHCTF1,missense_variant,p.Arg1217Gln,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Arg1208Gln,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000477526,;		T:0.0002					MODERATE	3650/6828	R1208Q	ELYS_HUMAN		T:0	Transcript		probably_damaging(0.983)	.	ENSP00000355465	8.24E-06	CCDS1629.2		T:0	1	
SLC26A7	0	LGGM	GRCh37	8	92307840	92307840	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	69	11	.	.	ENST00000309536.2:c.386A>G	p.Gln129Arg	p.Q129R	ENST00000309536	NM_134266.1	129	cAg/cGg	0	1		UPI0000046B1E	0	NA	ENST00000276609		ENSG00000147606	14467		80	0.69		HGNC	p.Q129R		SLC26A7		SNV							ENST00000522862	protein_coding	getma.org/?cm=var&var=hg19,8,92307840,A,G&fts=all		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF75		Q/R		G	neutral	625/5263		getma.org/?cm=msa&ty=f&p=S26A7_HUMAN&rb=116&re=161&var=Q129R	tolerated(0.5)	E5RFH2_HUMAN				SLC26A7,missense_variant,p.Gln129Arg,ENST00000276609,NM_052832.2,NM_001282356.1;SLC26A7,missense_variant,p.Gln129Arg,ENST00000523719,;SLC26A7,missense_variant,p.Gln129Arg,ENST00000309536,NM_134266.1;SLC26A7,missense_variant,p.Gln129Arg,ENST00000522862,;SLC26A7,upstream_gene_variant,,ENST00000520818,;SLC26A7,missense_variant,p.Gln129Arg,ENST00000522181,;							MODERATE	386/1971	Q129R	S26A7_HUMAN			Transcript		benign(0.001)	.	ENSP00000276609		CCDS6254.1			1	
EID1	0	LGGM	GRCh37	15	49170677	49170677	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	22	11	.	.	ENST00000530028.2:c.304T>C	p.Phe102Leu	p.F102L	ENST00000530028	NM_014335.2	102	Ttt/Ctt	0	1	1	UPI0000073CFD	0	NA	ENST00000530028		ENSG00000255302	1191		33	1.1		HGNC	p.F80L		EID1		SNV							ENST00000560490	protein_coding	getma.org/?cm=var&var=hg19,15,49170677,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15556:SF5,hmmpanther:PTHR15556		F/L		C	low	595/2298		getma.org/?cm=msa&ty=f&p=EID1_HUMAN&rb=1&re=185&var=F102L	tolerated(0.28)				YES	EID1,missense_variant,p.Phe102Leu,ENST00000530028,NM_014335.2;EID1,missense_variant,p.Phe80Leu,ENST00000560490,;SHC4,intron_variant,,ENST00000332408,NM_203349.3;SHC4,upstream_gene_variant,,ENST00000396535,;SHC4,upstream_gene_variant,,ENST00000537958,;SHC4,upstream_gene_variant,,ENST00000558220,;EID1,intron_variant,,ENST00000558295,;SHC4,upstream_gene_variant,,ENST00000559289,;SHC4,upstream_gene_variant,,ENST00000557797,;AC012379.1,non_coding_transcript_exon_variant,,ENST00000441252,;							MODERATE	304/564	F102L	EID1_HUMAN			Transcript		benign(0.013)	.	ENSP00000431162		CCDS53941.1			1	
NCOA6	0	LGGM	GRCh37	20	33330744	33330744	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	32	11	.	.	ENST00000374796.2:c.3316G>C	p.Gly1106Arg	p.G1106R	ENST00000374796		1106	Gga/Cga	0	1		UPI000013C634	0	NA	ENST00000359003		ENSG00000198646	15936		43	0.695		HGNC	p.G1106R		NCOA6		SNV							ENST00000374796	protein_coding	getma.org/?cm=var&var=hg19,20,33330744,C,G&fts=all		hmmpanther:PTHR15690:SF0,hmmpanther:PTHR15690		G/R		G	neutral	3657/7081		getma.org/?cm=msa&ty=f&p=NCOA6_HUMAN&rb=705&re=1513&var=G1106R						NCOA6,missense_variant,p.Gly1106Arg,ENST00000374796,;NCOA6,missense_variant,p.Gly1106Arg,ENST00000359003,NM_014071.3,NM_001242539.1;							MODERATE	3316/6192	G1106R	NCOA6_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000351894		CCDS13241.1			1	
PTK2	0	LGGM	GRCh37	8	141813656	141813656	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	41	12	.	.	ENST00000340930.3:c.961G>T	p.Ala321Ser	p.A321S	ENST00000340930	NM_001199649.1	321	Gca/Tca	0	1		UPI000012A4FB	0	getma.org/pdb.php?prot=FAK1_HUMAN&from=35&to=355&var=A321S	ENST00000521059		ENSG00000169398	9611		53	1.165		HGNC	p.A321S		PTK2		SNV							ENST00000522684	protein_coding	getma.org/?cm=var&var=hg19,8,141813656,C,A&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR24418:SF78,hmmpanther:PTHR24418,Superfamily_domains:SSF50729		A/S		A	low	1143/4405		getma.org/?cm=msa&ty=f&p=FAK1_HUMAN&rb=35&re=355&var=A321S	tolerated(0.13)	E5RJQ2_HUMAN,E5RIK4_HUMAN,E5RI72_HUMAN,E5RHK7_HUMAN,E5RHD8_HUMAN,E5RH48_HUMAN,E5RH08_HUMAN,E5RH01_HUMAN,E5RGA6_HUMAN,E5RG86_HUMAN,E5RG80_HUMAN,E5RG66_HUMAN,E5RFW9_HUMAN,B4DWJ1_HUMAN				PTK2,missense_variant,p.Ala321Ser,ENST00000522684,NM_153831.3;PTK2,missense_variant,p.Ala365Ser,ENST00000517887,;PTK2,missense_variant,p.Ala321Ser,ENST00000395218,;PTK2,missense_variant,p.Ala365Ser,ENST00000519419,;PTK2,missense_variant,p.Ala321Ser,ENST00000340930,NM_001199649.1;PTK2,missense_variant,p.Ala321Ser,ENST00000521059,NM_005607.4;PTK2,missense_variant,p.Ala332Ser,ENST00000519654,;PTK2,missense_variant,p.Ala321Ser,ENST00000535192,;PTK2,upstream_gene_variant,,ENST00000538769,;PTK2,upstream_gene_variant,,ENST00000523539,;PTK2,upstream_gene_variant,,ENST00000521986,;PTK2,upstream_gene_variant,,ENST00000523746,;PTK2,missense_variant,p.Ala134Ser,ENST00000524202,;PTK2,3_prime_UTR_variant,,ENST00000519993,;PTK2,upstream_gene_variant,,ENST00000521250,;PTK2,upstream_gene_variant,,ENST00000521981,;							MODERATE	961/3159	A321S	FAK1_HUMAN			Transcript		benign(0.152)	.	ENSP00000429474		CCDS6381.1			1	
OR51G2	0	LGGM	GRCh37	11	4936851	4936851	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	13	12	.	.	ENST00000322013.3:c.43G>A	p.Ala15Thr	p.A15T	ENST00000322013	NM_001005238.1	15	Gct/Act	0	1	1	UPI0000041C2F	0	NA	ENST00000322013		ENSG00000176893	15198		25	-0.46		HGNC	p.A15T		OR51G2		SNV							ENST00000322013	protein_coding	getma.org/?cm=var&var=hg19,11,4936851,C,T&fts=all		hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF133,Superfamily_domains:SSF81321		A/T		T	neutral	72/1023		getma.org/?cm=msa&ty=f&p=O51G2_HUMAN&rb=1&re=147&var=A15T	tolerated(0.41)				YES	OR51G2,missense_variant,p.Ala15Thr,ENST00000322013,NM_001005238.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							MODERATE	43/945	A15T	O51G2_HUMAN			Transcript		benign(0.005)	.	ENSP00000322593		CCDS31365.1			1	
ADAMTS1	0	LGGM	GRCh37	21	28210338	28210338	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	25	13	.	.	ENST00000284984.3:c.2464A>G	p.Thr822Ala	p.T822A	ENST00000284984	NM_006988.3	822	Acc/Gcc	0	1	1	UPI000013DDC6	0	NA	ENST00000284984		ENSG00000154734	217		38	2.9		HGNC	p.T822A		ADAMTS1		SNV							ENST00000284984	protein_coding	getma.org/?cm=var&var=hg19,21,28210338,T,C&fts=all		hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986		T/A		C	medium	2919/5191		getma.org/?cm=msa&ty=f&p=ATS1_HUMAN&rb=725&re=843&var=T822A	deleterious(0.01)	E5RI60_HUMAN			YES	ADAMTS1,missense_variant,p.Thr822Ala,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,downstream_gene_variant,,ENST00000492656,;							MODERATE	2464/2904	T822A	ATS1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000284984		CCDS33524.1			1	
DIAPH2	0	LGGM	GRCh37	X	96136640	96136640	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	12	13	.	.	ENST00000324765.8:c.510A>G	p.Leu170=	p.L170=	ENST00000324765		170	ttA/ttG	0	1	1	UPI00001293C8	0		ENST00000324765		ENSG00000147202	2877		25			HGNC	p.L170L		DIAPH2		SNV			1				ENST00000373049	protein_coding			Pfam_domain:PF06371,PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF174,Superfamily_domains:SSF48371		L		G		857/9333							YES	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,;RPA4,upstream_gene_variant,,ENST00000373040,NM_013347.4;							LOW	510/3306		DIAP2_HUMAN			Transcript			.	ENSP00000321348		CCDS14467.1			1	
CADM2	0	LGGM	GRCh37	3	86115900	86115900	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	34	15	.	.	ENST00000405615.2:c.1281C>T	p.Val427=	p.V427=	ENST00000405615	NM_153184.3	427	gtC/gtT	0	1		UPI000006DE82	0		ENST00000407528		ENSG00000175161	29849		49			HGNC	p.V425V		CADM2		SNV							ENST00000407528	protein_coding			hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56		V		T		1337/1422				G3XHN8_HUMAN				CADM2,synonymous_variant,p.=,ENST00000383699,NM_001167675.1,NM_001256504.1,NM_001256505.1;CADM2,synonymous_variant,p.=,ENST00000407528,NM_001167674.1;CADM2,synonymous_variant,p.=,ENST00000405615,NM_153184.3;							LOW	1275/1308		CADM2_HUMAN			Transcript			.	ENSP00000384575		CCDS54614.1			1	
ITCH	0	LGGM	GRCh37	20	33049956	33049956	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	29	16	.	.	ENST00000262650.6:c.1477A>C	p.Ile493Leu	p.I493L	ENST00000262650		493	Att/Ctt	0	1	1	UPI00000731C2	0	getma.org/pdb.php?prot=ITCH_HUMAN&from=480&to=509&var=I493L	ENST00000262650		ENSG00000078747	13890		45	0.585		HGNC	p.I493L		ITCH		SNV			1				ENST00000262650	protein_coding	getma.org/?cm=var&var=hg19,20,33049956,A,C&fts=all		Gene3D:2.20.70.10,Pfam_domain:PF00397,PIRSF_domain:PIRSF001569,PROSITE_patterns:PS01159,PROSITE_profiles:PS50020,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66,SMART_domains:SM00456,Superfamily_domains:SSF51045		I/L		C	neutral	1613/3089		getma.org/?cm=msa&ty=f&p=ITCH_HUMAN&rb=480&re=509&var=I493L	deleterious(0.05)				YES	ITCH,missense_variant,p.Ile452Leu,ENST00000374864,NM_001257137.1,NM_031483.5,NM_001257138.1;ITCH,missense_variant,p.Ile493Leu,ENST00000262650,;ITCH,missense_variant,p.Ile342Leu,ENST00000535650,;MIR644A,upstream_gene_variant,,ENST00000385262,;ITCH,non_coding_transcript_exon_variant,,ENST00000483727,;							MODERATE	1477/2712	I493L	ITCH_HUMAN			Transcript		benign(0.213)	.	ENSP00000262650		CCDS58768.1			1	
TMEM63C	0	LGGM	GRCh37	14	77723019	77723019	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	27	16	.	.	ENST00000298351.4:c.2371G>A	p.Ala791Thr	p.A791T	ENST00000298351	NM_020431.2	791	Gcc/Acc	0	1	1	UPI0000049C5C	0	NA	ENST00000298351		ENSG00000165548	23787		43	1.085		HGNC	p.A791T		TMEM63C		SNV							ENST00000298351	protein_coding	getma.org/?cm=var&var=hg19,14,77723019,G,A&fts=all		hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018		A/T		A	low	2515/5334		getma.org/?cm=msa&ty=f&p=TM63C_HUMAN&rb=683&re=806&var=A791T	tolerated(0.2)	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN			YES	TMEM63C,missense_variant,p.Ala791Thr,ENST00000298351,NM_020431.2;TMEM63C,non_coding_transcript_exon_variant,,ENST00000557504,;							MODERATE	2371/2421	A791T	TM63C_HUMAN			Transcript		benign(0.006)	.	ENSP00000298351		CCDS45141.1			1	
VPS29	0	LGGM	GRCh37	12	110933874	110933874	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	36	17	.	.	ENST00000360579.7:c.150T>C	p.Tyr50=	p.Y50=	ENST00000360579	NM_057180.1	50	taT/taC	0	1		UPI000003DBBC	0		ENST00000549578		ENSG00000111237	14340		53			HGNC	p.Y46Y		VPS29		SNV							ENST00000549578	protein_coding			hmmpanther:PTHR11124,Gene3D:3.60.21.10,TIGRFAM_domain:TIGR00040,Pfam_domain:PF12850,Superfamily_domains:SSF56300		Y		G		204/1523				Q05DG7_HUMAN,E9RKB4_HUMAN				VPS29,synonymous_variant,p.=,ENST00000549578,NM_016226.3;VPS29,synonymous_variant,p.=,ENST00000360579,NM_057180.1;VPS29,synonymous_variant,p.=,ENST00000546588,NM_001282150.1;VPS29,5_prime_UTR_variant,,ENST00000552130,;VPS29,5_prime_UTR_variant,,ENST00000447578,;VPS29,5_prime_UTR_variant,,ENST00000549970,;SNORD50,downstream_gene_variant,,ENST00000365465,;VPS29,non_coding_transcript_exon_variant,,ENST00000548259,;VPS29,non_coding_transcript_exon_variant,,ENST00000553128,;VPS29,downstream_gene_variant,,ENST00000551655,;VPS29,non_coding_transcript_exon_variant,,ENST00000548539,;VPS29,downstream_gene_variant,,ENST00000550267,;							LOW	138/549		VPS29_HUMAN			Transcript			.	ENSP00000447058		CCDS41832.1			1	
TNKS1BP1	0	LGGM	GRCh37	11	57077273	57077273	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	28	17	.	.	ENST00000532437.1:c.2912A>T	p.Asp971Val	p.D971V	ENST00000532437		971	gAc/gTc	0	1		UPI000013DB72	0	NA	ENST00000358252		ENSG00000149115	19081		45	0.895		HGNC	p.D971V		TNKS1BP1		SNV							ENST00000532437	protein_coding	getma.org/?cm=var&var=hg19,11,57077273,T,A&fts=all		hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2		D/V		A	low	3065/5795		getma.org/?cm=msa&ty=f&p=TB182_HUMAN&rb=748&re=1727&var=D971V	tolerated(0.07)	E9PKK0_HUMAN,E9PKE7_HUMAN				TNKS1BP1,missense_variant,p.Asp971Val,ENST00000532437,;TNKS1BP1,missense_variant,p.Asp971Val,ENST00000358252,NM_033396.2;TNKS1BP1,downstream_gene_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;							MODERATE	2912/5190	D971V	TB182_HUMAN			Transcript		benign(0.053)	.	ENSP00000350990		CCDS7951.1			1	
LRRC53	0	LGGM	GRCh37	1	74946050	74946050	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	41	17	.	.	ENST00000294635.4:c.691A>G	p.Asn231Asp	p.N231D	ENST00000294635		231	Aac/Gac	0	1	1	UPI000178DEDE	0		ENST00000294635		ENSG00000162621	25255		58			HGNC	p.N231D	rs774099770	LRRC53		SNV				0.00102			ENST00000416014	protein_coding			Gene3D:3.80.10.10,hmmpanther:PTHR24365,Superfamily_domains:SSF52058		N/D		C		806/3859			tolerated(0.05)				YES	LRRC53,missense_variant,p.Asn231Asp,ENST00000294635,;LRRC53,missense_variant,p.Asn231Asp,ENST00000416014,;TNNI3K,intron_variant,,ENST00000370891,NM_001112808.2;TNNI3K,intron_variant,,ENST00000326637,NM_015978.2;FPGT-TNNI3K,intron_variant,,ENST00000557284,;							MODERATE	691/3744		LRC53_HUMAN			Transcript		benign(0.032)	common_variant	ENSP00000294635	4.78E-05				1	
PCDHGA3	0	LGGM	GRCh37	5	140725359	140725359	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	63	18	.	.	ENST00000253812.6:c.1759C>G	p.Leu587Val	p.L587V	ENST00000253812	NM_018916.3	587	Ctg/Gtg	0	1	1	UPI0000161C1A	0	getma.org/pdb.php?prot=PCDG3_HUMAN&from=578&to=665&var=L587V	ENST00000253812		ENSG00000254245	8701		81	1.955		HGNC	p.L587V		PCDHGA3		SNV							ENST00000253812	protein_coding	getma.org/?cm=var&var=hg19,5,140725359,C,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,Superfamily_domains:SSF49313		L/V		G	medium	1759/4605		getma.org/?cm=msa&ty=f&p=PCDG3_HUMAN&rb=578&re=665&var=L587V	deleterious_low_confidence(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA3,missense_variant,p.Leu587Val,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,upstream_gene_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA2,downstream_gene_variant,,ENST00000528330,;							MODERATE	1759/2799	L587V	PCDG3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000253812		CCDS47290.1			1	
PCDH18	0	LGGM	GRCh37	4	138449942	138449942	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	31	18	.	.	ENST00000344876.4:c.2520G>C	p.Gln840His	p.Q840H	ENST00000344876	NM_019035.3	840	caG/caC	0	1	1	UPI0000047A88	0	NA	ENST00000344876		ENSG00000189184	14268		49	1.35		HGNC	p.Q840H		PCDH18		SNV							ENST00000344876	protein_coding	getma.org/?cm=var&var=hg19,4,138449942,C,G&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9		Q/H		G	low	2907/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=677&re=876&var=Q840H	tolerated(0.1)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Gln840His,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Gln839His,ENST00000412923,;PCDH18,missense_variant,p.Gln619His,ENST00000507846,;PCDH18,missense_variant,p.Gln51His,ENST00000510305,;PCDH18,missense_variant,p.Gln20His,ENST00000511115,;							MODERATE	2520/3408	Q840H	PCD18_HUMAN			Transcript		benign(0.051)	.	ENSP00000355082		CCDS34064.1			1	
MED14	0	LGGM	GRCh37	X	40542146	40542146	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093624	H093624N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	48	18	.	.	ENST00000324817.1:c.2160G>T	p.Trp720Cys	p.W720C	ENST00000324817	NM_004229.3	720	tgG/tgT	0	1	1	UPI00001414B1	0	NA	ENST00000324817		ENSG00000180182	2370		66	2.05		HGNC	p.W720C		MED14		SNV							ENST00000324817	protein_coding	getma.org/?cm=var&var=hg19,X,40542146,C,A&fts=all		hmmpanther:PTHR12809,hmmpanther:PTHR12809:SF2		W/C		A	medium	2279/7984		getma.org/?cm=msa&ty=f&p=MED14_HUMAN&rb=641&re=840&var=W720C	deleterious(0)				YES	MED14,missense_variant,p.Trp720Cys,ENST00000324817,NM_004229.3;MED14,non_coding_transcript_exon_variant,,ENST00000496531,;							MODERATE	2160/4365	W720C	MED14_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323720		CCDS14254.1			1	
UGP2	0	LGGM	GRCh37	2	64109644	64109644	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	34	19	.	.	ENST00000337130.5:c.300T>A	p.Asn100Lys	p.N100K	ENST00000337130	NM_006759.3	100	aaT/aaA	0	1	1	UPI000000DB95	0	getma.org/pdb.php?prot=UGPA_HUMAN&from=54&to=473&var=N100K	ENST00000337130		ENSG00000169764	12527		53	0.095		HGNC	p.N89K		UGP2		SNV							ENST00000394417	protein_coding	getma.org/?cm=var&var=hg19,2,64109644,T,A&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF01704,PIRSF_domain:PIRSF000806,hmmpanther:PTHR11952,hmmpanther:PTHR11952:SF1,Superfamily_domains:SSF53448		N/K		A	neutral	776/2338		getma.org/?cm=msa&ty=f&p=UGPA_HUMAN&rb=54&re=473&var=N100K	tolerated(0.5)	Q53QE9_HUMAN,D6W5E6_HUMAN,C9JWG0_HUMAN,C9JVG3_HUMAN,C9JUW1_HUMAN,C9JTZ5_HUMAN,C9JNZ1_HUMAN,C9J6Q0_HUMAN,C9J3M0_HUMAN			YES	UGP2,missense_variant,p.Asn100Lys,ENST00000337130,NM_006759.3;UGP2,missense_variant,p.Asn89Lys,ENST00000394417,NM_001001521.1;UGP2,missense_variant,p.Asn89Lys,ENST00000467648,;UGP2,missense_variant,p.Asn109Lys,ENST00000445915,;UGP2,missense_variant,p.Asn89Lys,ENST00000488245,;UGP2,missense_variant,p.Asn89Lys,ENST00000491621,;UGP2,missense_variant,p.Asn89Lys,ENST00000482668,;UGP2,missense_variant,p.Asn92Lys,ENST00000497883,;UGP2,missense_variant,p.Asn89Lys,ENST00000475462,;UGP2,missense_variant,p.Asn89Lys,ENST00000472047,;ACA59,downstream_gene_variant,,ENST00000515966,;UGP2,non_coding_transcript_exon_variant,,ENST00000487469,;UGP2,non_coding_transcript_exon_variant,,ENST00000495020,;UGP2,3_prime_UTR_variant,,ENST00000466642,;UGP2,3_prime_UTR_variant,,ENST00000487042,;UGP2,3_prime_UTR_variant,,ENST00000493222,;UGP2,3_prime_UTR_variant,,ENST00000467999,;UGP2,3_prime_UTR_variant,,ENST00000497510,;UGP2,3_prime_UTR_variant,,ENST00000467400,;UGP2,3_prime_UTR_variant,,ENST00000496334,;UGP2,non_coding_transcript_exon_variant,,ENST00000475550,;UGP2,non_coding_transcript_exon_variant,,ENST00000494536,;UGP2,non_coding_transcript_exon_variant,,ENST00000483461,;UGP2,downstream_gene_variant,,ENST00000483108,;							MODERATE	300/1527	N100K	UGPA_HUMAN			Transcript		benign(0.003)	.	ENSP00000338703		CCDS1875.1			1	
ITGB8	0	LGGM	GRCh37	7	20441488	20441488	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	45	19	.	.	ENST00000222573.4:c.1426G>T	p.Gly476Ter	p.G476*	ENST00000222573	NM_002214.2	476	Gga/Tga	0	1	1	UPI000012DA14	0	NA	ENST00000222573		ENSG00000105855	6163		64	0		HGNC	p.G476X	COSM216056,COSM216057	ITGB8		SNV						1,1	ENST00000222573	protein_coding	getma.org/?cm=var&var=hg19,7,20441488,G,T&fts=all		hmmpanther:PTHR10082:SF9,hmmpanther:PTHR10082,PIRSF_domain:PIRSF002512		G/*		T	NA	2110/8751		NA		B4DHD4_HUMAN			YES	ITGB8,stop_gained,p.Gly476Ter,ENST00000222573,NM_002214.2;ITGB8,stop_gained,p.Gly341Ter,ENST00000537992,;ITGB8,downstream_gene_variant,,ENST00000478974,;					1,1		HIGH	1426/2310	G476*	ITB8_HUMAN			Transcript			.	ENSP00000222573		CCDS5370.1			1	
KRAS	0	LGGM	GRCh37	12	25378647	25378647	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093624	H093624N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	24	20	.	.	ENST00000256078.4:c.351A>T	p.Lys117Asn	p.K117N	ENST00000256078	NM_033360.2	117	aaA/aaT	0	1	1	UPI0000133132	0	getma.org/pdb.php?prot=RASK_HUMAN&from=5&to=165&var=K117N	ENST00000256078		ENSG00000133703	6407		44	5		HGNC	p.K117N	COSM28519,COSM1562192	KRAS		SNV			1			1,1	ENST00000311936	protein_coding	getma.org/?cm=var&var=hg19,12,25378647,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF186,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		K/N		A	high	415/1119		getma.org/?cm=msa&ty=f&p=RASK_HUMAN&rb=5&re=165&var=K117N	deleterious(0.01)	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN			YES	KRAS,missense_variant,p.Lys117Asn,ENST00000311936,NM_004985.3;KRAS,missense_variant,p.Lys117Asn,ENST00000256078,NM_033360.2;KRAS,intron_variant,,ENST00000557334,;AC087239.1,upstream_gene_variant,,ENST00000594112,;					1,1		MODERATE	351/570	K117N	RASK_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000256078		CCDS8703.1			1	
WDR76	0	LGGM	GRCh37	15	44158494	44158494	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	24	21	.	.	ENST00000263795.6:c.1785G>T	p.Val595=	p.V595=	ENST00000263795	NM_001167941.1	595	gtG/gtT	0	1	1	UPI000013D462	0		ENST00000263795		ENSG00000092470	25773		45			HGNC	p.V531V		WDR76		SNV							ENST00000381246	protein_coding			hmmpanther:PTHR14773:SF0,hmmpanther:PTHR14773,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		V		T		1855/3978				C9JE56_HUMAN			YES	WDR76,synonymous_variant,p.=,ENST00000263795,NM_001167941.1,NM_024908.3;WDR76,synonymous_variant,p.=,ENST00000381246,;FRMD5,downstream_gene_variant,,ENST00000417257,NM_032892.3;FRMD5,downstream_gene_variant,,ENST00000402883,;Y_RNA,upstream_gene_variant,,ENST00000363521,;WDR76,non_coding_transcript_exon_variant,,ENST00000478130,;							LOW	1785/1881		WDR76_HUMAN			Transcript			.	ENSP00000263795		CCDS10106.1			1	
ZNF426	0	LGGM	GRCh37	19	9639813	9639813	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	29	22	.	.	ENST00000535489.1:c.908C>A	p.Thr303Asn	p.T303N	ENST00000535489		303	aCt/aAt	0	1		UPI0000072122	0	getma.org/pdb.php?prot=ZN426_HUMAN&from=294&to=319&var=T303N	ENST00000253115		ENSG00000130818	20725		51	2.23		HGNC	p.T303N		ZNF426		SNV							ENST00000535489	protein_coding	getma.org/?cm=var&var=hg19,19,9639813,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF85,hmmpanther:PTHR24402,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		T/N		T	medium	1172/2318		getma.org/?cm=msa&ty=f&p=ZN426_HUMAN&rb=274&re=339&var=T303N	deleterious(0.03)					ZNF426,missense_variant,p.Thr265Asn,ENST00000593003,;ZNF426,missense_variant,p.Thr303Asn,ENST00000535489,;ZNF426,missense_variant,p.Thr303Asn,ENST00000253115,NM_024106.1;ZNF426,downstream_gene_variant,,ENST00000589289,;							MODERATE	908/1665	T303N	ZN426_HUMAN			Transcript		benign(0.065)	.	ENSP00000253115		CCDS12215.1			1	
PLCG1	0	LGGM	GRCh37	20	39798121	39798121	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	28	24	.	.	ENST00000373272.2:c.2605G>A	p.Gly869Arg	p.G869R	ENST00000373272	NM_002660.2	869	Ggg/Agg	0	1		UPI0000131AA5	0	getma.org/pdb.php?prot=PLCG1_HUMAN&from=844&to=951&var=G869R	ENST00000373271		ENSG00000124181	9065		52	2.365		HGNC	p.G869R		PLCG1		SNV							ENST00000244007	protein_coding	getma.org/?cm=var&var=hg19,20,39798121,G,A&fts=all		Gene3D:2.30.29.30,PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF52,SMART_domains:SM00233		G/R		A	medium	3010/5490		getma.org/?cm=msa&ty=f&p=PLCG1_HUMAN&rb=844&re=951&var=G869R	deleterious(0)					PLCG1,missense_variant,p.Gly869Arg,ENST00000373272,NM_002660.2;PLCG1,missense_variant,p.Gly869Arg,ENST00000373271,NM_182811.1;PLCG1,missense_variant,p.Gly869Arg,ENST00000244007,;PLCG1,upstream_gene_variant,,ENST00000608689,;PLCG1,downstream_gene_variant,,ENST00000465571,;PLCG1,upstream_gene_variant,,ENST00000609821,;PLCG1,downstream_gene_variant,,ENST00000473632,;PLCG1,non_coding_transcript_exon_variant,,ENST00000477870,;PLCG1,non_coding_transcript_exon_variant,,ENST00000483175,;PLCG1,upstream_gene_variant,,ENST00000607954,;PLCG1,upstream_gene_variant,,ENST00000609257,;PLCG1,upstream_gene_variant,,ENST00000461641,;PLCG1,upstream_gene_variant,,ENST00000599785,;PLCG1,upstream_gene_variant,,ENST00000608885,;							MODERATE	2605/3873	G869R	PLCG1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362368		CCDS13314.1			1	
ZNF721	0	LGGM	GRCh37	4	436619	436619	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	89	24	.	.	ENST00000511833.2:c.1637T>G	p.Val546Gly	p.V546G	ENST00000511833	NM_133474.3	546	gTa/gGa	0	1		UPI000020B95C	0	getma.org/pdb.php?prot=ZN721_HUMAN&from=532&to=556&var=V534G	ENST00000338977		ENSG00000182903	29425		113	1.285		HGNC	p.V546G		ZNF721		SNV							ENST00000511833	protein_coding	getma.org/?cm=var&var=hg19,4,436619,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/G		C	low	1650/4492		getma.org/?cm=msa&ty=f&p=ZN721_HUMAN&rb=512&re=576&var=V534G	tolerated(0.36)					ZNF721,missense_variant,p.Val534Gly,ENST00000338977,;ZNF721,missense_variant,p.Val546Gly,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,;							MODERATE	1601/2736	V534G	ZN721_HUMAN			Transcript		benign(0.446)	.	ENSP00000340524					1	
NLRP10	0	LGGM	GRCh37	11	7981812	7981812	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	52	25	.	.	ENST00000328600.2:c.1347T>C	p.Ser449=	p.S449=	ENST00000328600	NM_176821.3	449	agT/agC	0	1	1	UPI0000167F6C	0		ENST00000328600		ENSG00000182261	21464		77			HGNC	p.S449S		NLRP10		SNV							ENST00000328600	protein_coding			hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF103		S		G		1509/2350				E9PPY0_HUMAN			YES	NLRP10,synonymous_variant,p.=,ENST00000328600,NM_176821.3;NLRP10,downstream_gene_variant,,ENST00000526590,;							LOW	1347/1968		NAL10_HUMAN			Transcript			.	ENSP00000327763		CCDS7784.1			1	
TIPARP	0	LGGM	GRCh37	3	156422644	156422644	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	51	26	.	.	ENST00000461166.1:c.1698A>G	p.Ala566=	p.A566=	ENST00000461166	NM_001184717.1	566	gcA/gcG	0	1		UPI000004FA31	0		ENST00000295924		ENSG00000163659	23696		77			HGNC	p.A566A		TIPARP		SNV							ENST00000461166	protein_coding			PROSITE_profiles:PS51059,hmmpanther:PTHR14453:SF13,hmmpanther:PTHR14453,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399		A		G		2194/4109				G5E9W1_HUMAN,C9JXM5_HUMAN				TIPARP,synonymous_variant,p.=,ENST00000461166,NM_001184717.1;TIPARP,synonymous_variant,p.=,ENST00000295924,NM_015508.4;TIPARP,synonymous_variant,p.=,ENST00000542783,NM_001184718.1;TIPARP,synonymous_variant,p.=,ENST00000495891,;TIPARP,synonymous_variant,p.=,ENST00000486483,;TIPARP,synonymous_variant,p.=,ENST00000481853,;TIPARP,downstream_gene_variant,,ENST00000473702,;							LOW	1698/1974		PARPT_HUMAN			Transcript			.	ENSP00000295924		CCDS3177.1			1	
COL25A1	0	LGGM	GRCh37	4	109745378	109745378	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	19	31	.	.	ENST00000399132.1:c.1797C>G	p.Phe599Leu	p.F599L	ENST00000399132	NM_198721.2	599	ttC/ttG	0	1	1	UPI0000225CD2	0	NA	ENST00000399132		ENSG00000188517	18603		50	-0.85		HGNC	p.F599L	rs766049644	COL25A1		SNV			1				ENST00000399126	protein_coding	getma.org/?cm=var&var=hg19,4,109745378,G,C&fts=all		hmmpanther:PTHR24023:SF412,hmmpanther:PTHR24023,Pfam_domain:PF01391		F/L		C	neutral	2328/2724	1.50E-05	getma.org/?cm=msa&ty=f&p=COPA1_HUMAN&rb=574&re=647&var=F599L	tolerated(1)	D6R8Y2_HUMAN			YES	COL25A1,missense_variant,p.Phe599Leu,ENST00000399132,NM_198721.2;COL25A1,missense_variant,p.Phe599Leu,ENST00000399126,NM_032518.2;COL25A1,missense_variant,p.Phe602Leu,ENST00000399127,NM_001256074.1;COL25A1,upstream_gene_variant,,ENST00000512961,;COL25A1,3_prime_UTR_variant,,ENST00000494183,;COL25A1,non_coding_transcript_exon_variant,,ENST00000505377,;							MODERATE	1797/1965	F599L	COPA1_HUMAN			Transcript		benign(0.027)	.	ENSP00000382083	8.28E-06	CCDS43258.1			1	
POTEH	0	LGGM	GRCh37	22	16287872	16287872	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093624	H093624N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	199	33	.	.	ENST00000343518.6:c.14C>T	p.Ala5Val	p.A5V	ENST00000343518	NM_001136213.1	5	gCt/gTt	0	1	1	UPI0000E5A425	0	NA	ENST00000343518		ENSG00000198062	133		232	-0.895		HGNC	p.A5V		POTEH		SNV							ENST00000343518	protein_coding	getma.org/?cm=var&var=hg19,22,16287872,G,A&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		A/V		A	neutral	66/1928		getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=1&re=39&var=A5V	tolerated_low_confidence(1)				YES	POTEH,missense_variant,p.Ala5Val,ENST00000343518,NM_001136213.1;POTEH,upstream_gene_variant,,ENST00000452800,;							MODERATE	14/1638	A5V	POTEH_HUMAN			Transcript		benign(0.001)	.	ENSP00000340610		CCDS46658.1			1	
TTN	0	LGGM	GRCh37	2	179455375	179455375	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	69	34	.	.	ENST00000589042.1:c.61077T>C	p.Ser20359=	p.S20359=	ENST00000589042	NM_001267550.1	20359	agT/agC	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		103			HGNC	p.S11419S		TTN		SNV			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF49265,Superfamily_domains:SSF49265		S		G		56379/104301				C9JQJ2_HUMAN				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,,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,;							LOW	56154/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
PTTG2	0	LGGM	GRCh37	4	37962550	37962550	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093624	H093624N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093624N.bam, H093624T.bam	Illumina HiSeq	96	50	.	.	ENST00000504686.1:c.495A>T	p.Ser165=	p.S165=	ENST00000504686	NM_006607.2	165	tcA/tcT	0	1	1	UPI000020AF94	0		ENST00000504686		ENSG00000250254	9691		146			HGNC	p.S165S		PTTG2		SNV							ENST00000504686	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10418,Pfam_domain:PF04856		S		T		495/691							YES	PTTG2,synonymous_variant,p.=,ENST00000504686,NM_006607.2;TBC1D1,intron_variant,,ENST00000261439,NM_015173.3,NM_001253914.1,NM_001253915.1;TBC1D1,intron_variant,,ENST00000508802,NM_001253912.1;TBC1D1,intron_variant,,ENST00000510573,;AC021106.1,non_coding_transcript_exon_variant,,ENST00000455272,;							LOW	495/576		PTTG2_HUMAN			Transcript			.	ENSP00000424261		CCDS54755.1			1	
ATP10A	0	LGGM	GRCh37	15	25963377	25963377	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	5	2	.	.	ENST00000356865.6:c.1533C>A	p.Ala511=	p.A511=	ENST00000356865	NM_024490.3	511	gcC/gcA	0	1	1	UPI0000124FAB	0		ENST00000356865		ENSG00000206190	13542		7			HGNC	p.A511A		ATP10A		SNV			1				ENST00000555815	protein_coding			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652		A		T		1645/6680							YES	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,synonymous_variant,p.=,ENST00000555815,;							LOW	1533/4500		AT10A_HUMAN			Transcript			.	ENSP00000349325		CCDS32178.1			1	
TMEM200C	0	LGGM	GRCh37	18	5891569	5891569	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	27	3	.	.	ENST00000581347.2:c.494T>A	p.Leu165His	p.L165H	ENST00000581347		165	cTc/cAc	0	1		UPI000020198E	0	NA	ENST00000383490		ENSG00000206432	37208		30	2.19		HGNC	p.L165H		TMEM200C		SNV							ENST00000383490	protein_coding	getma.org/?cm=var&var=hg19,18,5891569,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR31815,hmmpanther:PTHR31815:SF2,Pfam_domain:PF10177		L/H		T	medium	535/1920		getma.org/?cm=msa&ty=f&p=T200C_HUMAN&rb=14&re=201&var=L165H	deleterious(0)					TMEM200C,missense_variant,p.Leu165His,ENST00000581347,;TMEM200C,missense_variant,p.Leu165His,ENST00000383490,NM_001080209.1;RP11-945C19.4,intron_variant,,ENST00000577694,;RP11-945C19.4,downstream_gene_variant,,ENST00000582939,;RP11-945C19.4,downstream_gene_variant,,ENST00000580845,;							MODERATE	494/1866	L165H	T200C_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000372982		CCDS45825.1			1	
ITGB7	0	LGGM	GRCh37	12	53594205	53594205	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	36	3	.	.	ENST00000267082.5:c.23T>C	p.Leu8Pro	p.L8P	ENST00000267082	NM_000889.1	8	cTt/cCt	0	1	1	UPI0000000DF7	0	NA	ENST00000267082		ENSG00000139626	6162		39	0.55		HGNC	p.L8P		ITGB7		SNV							ENST00000552935	protein_coding	getma.org/?cm=var&var=hg19,12,53594205,A,G&fts=all		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR10082,hmmpanther:PTHR10082:SF36,PIRSF_domain:PIRSF002512		L/P		G	neutral	255/2867		getma.org/?cm=msa&ty=f&p=ITB7_HUMAN&rb=1&re=49&var=L8P	deleterious_low_confidence(0)	H3BRM2_HUMAN,F8W186_HUMAN,F8VNX4_HUMAN,B7Z506_HUMAN			YES	ITGB7,missense_variant,p.Leu8Pro,ENST00000267082,NM_000889.1;ITGB7,missense_variant,p.Leu8Pro,ENST00000422257,;ITGB7,missense_variant,p.Leu8Pro,ENST00000338737,;ITGB7,missense_variant,p.Leu8Pro,ENST00000550743,;ITGB7,missense_variant,p.Leu8Pro,ENST00000552972,;ITGB7,missense_variant,p.Leu8Pro,ENST00000549086,;ITGB7,missense_variant,p.Leu8Pro,ENST00000552935,;ITGB7,missense_variant,p.Leu8Pro,ENST00000542497,;ITGB7,non_coding_transcript_exon_variant,,ENST00000549462,;ITGB7,intron_variant,,ENST00000589179,;ITGB7,upstream_gene_variant,,ENST00000551887,;ITGB7,upstream_gene_variant,,ENST00000549196,;							MODERATE	23/2397	L8P	ITB7_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000267082		CCDS8849.1			1	
TP53	0	LGGM	GRCh37	17	7578469	7578469	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	15	3	.	.	ENST00000269305.4:c.461G>T	p.Gly154Val	p.G154V	ENST00000269305	NM_001126112.2	154	gGc/gTc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=G154V	ENST00000269305		ENSG00000141510	11998		18	2.8		HGNC	p.G154V	TP53_g.12449G>T,COSM6815,COSM342243,COSM342244,COSM342246,COSM1649372,COSM342245	TP53		SNV			1			0,1,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578469,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		G/V		A	medium	651/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=G154V	deleterious(0)	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			YES	TP53,missense_variant,p.Gly154Val,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gly154Val,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gly154Val,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gly154Val,ENST00000445888,;TP53,missense_variant,p.Gly154Val,ENST00000359597,;TP53,missense_variant,p.Gly154Val,ENST00000413465,;TP53,missense_variant,p.Gly22Val,ENST00000509690,;TP53,missense_variant,p.Gly154Val,ENST00000508793,;TP53,missense_variant,p.Gly61Val,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,;					0,1,1,1,1,1,1		MODERATE	461/1182	G154V	P53_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000269305		CCDS11118.1			1	
KCNJ13	0	LGGM	GRCh37	2	233633500	233633500	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	30	3	.	.	ENST00000233826.3:c.484C>A	p.Arg162=	p.R162=	ENST00000233826	NM_002242.4	162	Cgg/Agg	0	1	1	UPI000012D8AF	0		ENST00000233826		ENSG00000115474	6259		33			HGNC	p.P83Q		KCNJ13		SNV			1				ENST00000409779	protein_coding			hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF3,Pfam_domain:PF01007,Gene3D:2.60.40.1400,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324,Superfamily_domains:SSF81296		R		T		624/2950				C9JWD6_HUMAN			YES	KCNJ13,missense_variant,p.Pro83Gln,ENST00000409779,NM_001172416.1;KCNJ13,synonymous_variant,p.=,ENST00000233826,NM_002242.4;KCNJ13,synonymous_variant,p.=,ENST00000410029,;KCNJ13,synonymous_variant,p.=,ENST00000438786,;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,,ENST00000421778,;GIGYF2,intron_variant,,ENST00000455139,;GIGYF2,intron_variant,,ENST00000436349,;KCNJ13,intron_variant,,ENST00000444142,;AC064852.4,upstream_gene_variant,,ENST00000427571,;GIGYF2,intron_variant,,ENST00000463554,;GIGYF2,downstream_gene_variant,,ENST00000473170,;GIGYF2,downstream_gene_variant,,ENST00000475530,;GIGYF2,intron_variant,,ENST00000424038,;							LOW	484/1083		IRK13_HUMAN			Transcript			.	ENSP00000233826		CCDS2498.1			1	
INHBA	0	LGGM	GRCh37	7	41729967	41729967	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	36	3	.	.	ENST00000242208.4:c.562A>G	p.Thr188Ala	p.T188A	ENST00000242208	NM_002192.2	188	Aca/Gca	0	1	1	UPI000012D421	0	NA	ENST00000242208		ENSG00000122641	6066		39	-0.55		HGNC	p.T188A		INHBA		SNV			1				ENST00000442711	protein_coding	getma.org/?cm=var&var=hg19,7,41729967,T,C&fts=all		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF133,Pfam_domain:PF00688		T/A		C	neutral	809/6064		getma.org/?cm=msa&ty=f&p=INHBA_HUMAN&rb=36&re=296&var=T188A	tolerated(0.8)	A4D1W7_HUMAN			YES	INHBA,missense_variant,p.Thr188Ala,ENST00000242208,NM_002192.2;INHBA,missense_variant,p.Thr188Ala,ENST00000442711,;AC005027.3,intron_variant,,ENST00000416150,;INHBA-AS1,upstream_gene_variant,,ENST00000415848,;INHBA-AS1,upstream_gene_variant,,ENST00000422822,;INHBA-AS1,upstream_gene_variant,,ENST00000420821,;INHBA,non_coding_transcript_exon_variant,,ENST00000464515,;							MODERATE	562/1281	T188A	INHBA_HUMAN			Transcript		benign(0.001)	.	ENSP00000242208		CCDS5464.1			1	
IGF2BP1	0	LGGM	GRCh37	17	47126804	47126804	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	17	3	.	.	ENST00000290341.3:c.1732T>A	p.Ter578ArgextTer45	p.*578Rext*45	ENST00000290341	NM_006546.3	578	Tga/Aga	0	1	1	UPI0000117170	0		ENST00000290341		ENSG00000159217	28866		20			HGNC	p.X578R		IGF2BP1		SNV							ENST00000290341	protein_coding					*/R		A		2066/8274				D3DTW3_HUMAN			YES	IGF2BP1,stop_lost,p.Ter578ArgextTer45,ENST00000290341,NM_006546.3;IGF2BP1,stop_lost,p.Ter439ArgextTer?,ENST00000431824,NM_001160423.1;AC105030.1,upstream_gene_variant,,ENST00000578722,;							HIGH	1732/1734		IF2B1_HUMAN			Transcript			.	ENSP00000290341		CCDS11543.1			1	
KEAP1	0	LGGM	GRCh37	19	10600017	10600017	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	18	3	.	.	ENST00000171111.5:c.1559A>G	p.Tyr520Cys	p.Y520C	ENST00000171111	NM_203500.1	520	tAt/tGt	0	1	1	UPI000007139C	0	getma.org/pdb.php?prot=KEAP1_HUMAN&from=506&to=551&var=Y520C	ENST00000171111		ENSG00000079999	23177		21	4		HGNC	p.Y520C	rs753646735	KEAP1		SNV							ENST00000393623	protein_coding	getma.org/?cm=var&var=hg19,19,10600017,T,C&fts=all		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715		Y/C		C	high	2107/2955	1.51E-05	getma.org/?cm=msa&ty=f&p=KEAP1_HUMAN&rb=506&re=551&var=Y520C	deleterious(0)	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,missense_variant,p.Tyr520Cys,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Tyr520Cys,ENST00000393623,NM_012289.3;KEAP1,intron_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,synonymous_variant,p.=,ENST00000590593,;KEAP1,non_coding_transcript_exon_variant,,ENST00000590237,;KEAP1,downstream_gene_variant,,ENST00000585845,;							MODERATE	1559/1875	Y520C	KEAP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000171111	8.24E-06	CCDS12239.1			1	
NUMBL	0	LGGM	GRCh37	19	41179265	41179265	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	8	3	.	.	ENST00000252891.4:c.1020C>T	p.Phe340=	p.F340=	ENST00000252891	NM_004756.3	340	ttC/ttT	0	1	1	UPI000003032B	0		ENST00000252891		ENSG00000105245	8061	9.06E-05	11			HGNC	p.F299F	rs550645531	NUMBL	0.00555	SNV							ENST00000540131	protein_coding		A:0	hmmpanther:PTHR11232:SF32,hmmpanther:PTHR11232,Pfam_domain:PF06311,PIRSF_domain:PIRSF017607		F		A		1188/2775	1.60E-05			M0R0Q4_HUMAN,M0QZV7_HUMAN,M0QYC2_HUMAN,B7Z5W0_HUMAN,A8K033_HUMAN	A:0	A:0	YES	NUMBL,synonymous_variant,p.=,ENST00000252891,NM_004756.3;NUMBL,synonymous_variant,p.=,ENST00000598779,;NUMBL,synonymous_variant,p.=,ENST00000540131,;NUMBL,downstream_gene_variant,,ENST00000598773,;NUMBL,downstream_gene_variant,,ENST00000600967,;NUMBL,downstream_gene_variant,,ENST00000593367,;	0.000119	A:0.0004					LOW	1020/1830		NUMBL_HUMAN		A:0	Transcript			common_variant	ENSP00000252891	0.000684	CCDS12561.1		A:0.002	1	
RCN3	0	LGGM	GRCh37	19	50046428	50046428	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	10	3	.	.	ENST00000270645.3:c.945C>T	p.Thr315=	p.T315=	ENST00000270645	NM_020650.2	315	acC/acT	0	1	1	UPI000000D8C5	0		ENST00000270645		ENSG00000142552	21145		13			HGNC	p.T315T		RCN3		SNV							ENST00000270645	protein_coding			hmmpanther:PTHR10827:SF47,hmmpanther:PTHR10827,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		T		T		1392/1859							YES	RCN3,synonymous_variant,p.=,ENST00000270645,NM_020650.2;RCN3,synonymous_variant,p.=,ENST00000593483,;RCN3,intron_variant,,ENST00000598833,;							LOW	945/987		RCN3_HUMAN			Transcript			.	ENSP00000270645		CCDS12771.1			1	
NBAS	0	LGGM	GRCh37	2	15448391	15448391	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	33	3	.	.	ENST00000281513.5:c.4746C>A	p.Ile1582=	p.I1582=	ENST00000281513	NM_015909.3	1582	atC/atA	0	1	1	UPI00001AEA68	0		ENST00000281513		ENSG00000151779	15625		36			HGNC	p.I1582I		NBAS		SNV			1				ENST00000281513	protein_coding			hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2,Low_complexity_(Seg):seg		I		T		4772/7281				Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,synonymous_variant,p.=,ENST00000281513,NM_015909.3;NBAS,synonymous_variant,p.=,ENST00000441750,;NBAS,synonymous_variant,p.=,ENST00000442506,;							LOW	4746/7116		NBAS_HUMAN			Transcript			.	ENSP00000281513		CCDS1685.1			1	
EFS	0	LGGM	GRCh37	14	23828998	23828998	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	46	3	.	.	ENST00000216733.3:c.689T>G	p.Leu230Arg	p.L230R	ENST00000216733	NM_005864.3	230	cTc/cGc	0	1	1	UPI0000129D21	0	NA	ENST00000216733		ENSG00000100842	16898		49	2.015		HGNC	p.L230R		EFS		SNV							ENST00000216733	protein_coding	getma.org/?cm=var&var=hg19,14,23828998,A,C&fts=all		hmmpanther:PTHR10654:SF13,hmmpanther:PTHR10654		L/R		C	medium	1297/3118		getma.org/?cm=msa&ty=f&p=EFS_HUMAN&rb=61&re=260&var=L230R	tolerated(0.37)				YES	EFS,missense_variant,p.Leu230Arg,ENST00000216733,NM_005864.3;EFS,missense_variant,p.Leu137Arg,ENST00000351354,NM_032459.2,NM_001277174.1;EFS,intron_variant,,ENST00000429593,;RP11-124D2.3,downstream_gene_variant,,ENST00000554010,;							MODERATE	689/1686	L230R	EFS_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000216733		CCDS9595.1			1	
CSPG4	0	LGGM	GRCh37	15	75982450	75982450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	17	3	.	.	ENST00000308508.5:c.956G>A	p.Arg319Gln	p.R319Q	ENST00000308508	NM_001897.4	319	cGg/cAg	0	1	1	UPI00001AEEB6	0	getma.org/pdb.php?prot=CSPG4_HUMAN&from=230&to=363&var=R319Q	ENST00000308508		ENSG00000173546	2466		20	0.46		HGNC	p.R319Q	rs758735146	CSPG4	0.00057	SNV							ENST00000308508	protein_coding	getma.org/?cm=var&var=hg19,15,75982450,C,T&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00282,Pfam_domain:PF02210,Gene3D:2.60.120.200,hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11,PROSITE_profiles:PS50025		R/Q		T	neutral	1049/8290	1.60E-05	getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=230&re=363&var=R319Q	tolerated(0.93)				YES	CSPG4,missense_variant,p.Arg319Gln,ENST00000308508,NM_001897.4;							MODERATE	956/6969	R319Q	CSPG4_HUMAN			Transcript		benign(0.027)	common_variant	ENSP00000312506	8.25E-05	CCDS10284.1			1	
FAM153A	0	LGGM	GRCh37	5	177177990	177177990	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	21	3	.	.	ENST00000440605.3:c.-56-2290G>A		*19*	ENST00000440605	NM_173663.3			0	1		UPI0000D616C5	0		ENST00000360669		ENSG00000170074	29940		24			HGNC	p.R32H	rs766787947	FAM153A	0.00228	SNV							ENST00000503845	nonsense_mediated_decay							T		-/4499				D6RA46_HUMAN				FAM153A,intron_variant,,ENST00000440605,NM_173663.3;FAM153A,intron_variant,,ENST00000510276,;FAM153A,intron_variant,,ENST00000513554,;FAM153A,intron_variant,,ENST00000393518,;FAM153A,intron_variant,,ENST00000505531,;FAM153A,intron_variant,,ENST00000503567,;FAM153A,intron_variant,,ENST00000504518,;FAM153A,intron_variant,,ENST00000505683,;FAM153A,upstream_gene_variant,,ENST00000503909,;FAM153A,missense_variant,p.Arg32His,ENST00000503845,;FAM153A,non_coding_transcript_exon_variant,,ENST00000507615,;FAM153A,non_coding_transcript_exon_variant,,ENST00000506354,;FAM153A,intron_variant,,ENST00000360669,;FAM153A,intron_variant,,ENST00000515787,;							MODIFIER	-/933		F153A_HUMAN			Transcript			common_variant	ENSP00000353887	8.93E-05	CCDS34305.1			1	
TSC2	0	LGGM	GRCh37	16	2129324	2129324	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	25	3	.	.	ENST00000219476.3:c.3179G>T	p.Trp1060Leu	p.W1060L	ENST00000219476	NM_000548.3	1060	tGg/tTg	0	1	1	UPI000013C781	0	NA	ENST00000219476		ENSG00000103197	12363		28	2.435		HGNC	p.W1060L		TSC2		SNV			1				ENST00000350773	protein_coding	getma.org/?cm=var&var=hg19,16,2129324,G,T&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1		W/L		T	medium	3809/6156		getma.org/?cm=msa&ty=f&p=TSC2_HUMAN&rb=905&re=1104&var=W1060L	deleterious(0)				YES	TSC2,missense_variant,p.Trp1060Leu,ENST00000219476,NM_000548.3;TSC2,missense_variant,p.Trp1060Leu,ENST00000350773,NM_001114382.1;TSC2,missense_variant,p.Trp1017Leu,ENST00000353929,;TSC2,missense_variant,p.Trp1027Leu,ENST00000568454,;TSC2,missense_variant,p.Trp1016Leu,ENST00000401874,NM_001077183.1;TSC2,missense_variant,p.Trp980Leu,ENST00000439673,;TSC2,missense_variant,p.Trp968Leu,ENST00000382538,;TSC2,upstream_gene_variant,,ENST00000569110,;TSC2,non_coding_transcript_exon_variant,,ENST00000568366,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,3_prime_UTR_variant,,ENST00000471143,;TSC2,3_prime_UTR_variant,,ENST00000483020,;TSC2,non_coding_transcript_exon_variant,,ENST00000497886,;TSC2,non_coding_transcript_exon_variant,,ENST00000561695,;TSC2,upstream_gene_variant,,ENST00000569930,;TSC2,downstream_gene_variant,,ENST00000463808,;TSC2,downstream_gene_variant,,ENST00000563346,;							MODERATE	3179/5424	W1060L	TSC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000219476		CCDS10458.1			1	
SNAP23	0	LGGM	GRCh37	15	42820480	42820480	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	40	3	.	.	ENST00000249647.3:c.287G>A	p.Gly96Asp	p.G96D	ENST00000249647	NM_003825.3	96	gGc/gAc	0	1	1	UPI0000000A2C	0	NA	ENST00000249647		ENSG00000092531	11131		43	0.695		HGNC	p.G96D		SNAP23		SNV							ENST00000561526	protein_coding	getma.org/?cm=var&var=hg19,15,42820480,G,A&fts=all		Pfam_domain:PF00835,hmmpanther:PTHR19305,hmmpanther:PTHR19305:SF4		G/D		A	neutral	755/2687		getma.org/?cm=msa&ty=f&p=SNP23_HUMAN&rb=86&re=147&var=G96D	tolerated(0.55)	H3BV99_HUMAN,H3BR18_HUMAN,H3BM38_HUMAN,A8K287_HUMAN			YES	SNAP23,missense_variant,p.Gly96Asp,ENST00000249647,NM_003825.3;SNAP23,missense_variant,p.Gly47Asp,ENST00000568841,;SNAP23,missense_variant,p.Gly53Asp,ENST00000566327,;SNAP23,missense_variant,p.Gly96Asp,ENST00000568859,;SNAP23,missense_variant,p.Gly96Asp,ENST00000561526,;SNAP23,missense_variant,p.Gly47Asp,ENST00000563830,;SNAP23,intron_variant,,ENST00000349777,NM_130798.2;SNAP23,intron_variant,,ENST00000564153,;SNAP23,intron_variant,,ENST00000397138,;SNAP23,intron_variant,,ENST00000563873,;RP11-265N6.1,downstream_gene_variant,,ENST00000564805,;SNAP23,3_prime_UTR_variant,,ENST00000563765,;SNAP23,3_prime_UTR_variant,,ENST00000566035,;SNAP23,3_prime_UTR_variant,,ENST00000568451,;SNAP23,3_prime_UTR_variant,,ENST00000568331,;SNAP23,non_coding_transcript_exon_variant,,ENST00000568514,;SNAP23,non_coding_transcript_exon_variant,,ENST00000563333,;							MODERATE	287/636	G96D	SNP23_HUMAN			Transcript		benign(0.008)	.	ENSP00000249647		CCDS10087.1			1	
POLR2A	0	LGGM	GRCh37	17	7415240	7415240	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	33	3	.	.	ENST00000322644.6:c.4212C>A	p.Thr1404=	p.T1404=	ENST00000322644	NM_000937.4	1404	acC/acA	0	1	1	UPI0000140EB9	0		ENST00000322644		ENSG00000181222	9187		36			HGNC	p.T1404T		POLR2A		SNV							ENST00000322644	protein_coding			Pfam_domain:PF04998,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484		T		A		4611/6749							YES	POLR2A,synonymous_variant,p.=,ENST00000322644,NM_000937.4;POLR2A,non_coding_transcript_exon_variant,,ENST00000576553,;POLR2A,downstream_gene_variant,,ENST00000573603,;							LOW	4212/5913		RPB1_HUMAN			Transcript			.	ENSP00000314949		CCDS32548.1			1	
ZNF318	0	LGGM	GRCh37	6	43322920	43322920	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	45	4	.	.	ENST00000361428.2:c.2152C>A	p.Pro718Thr	p.P718T	ENST00000361428	NM_014345.2	718	Cca/Aca	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578		49	0		HGNC	p.P718T		ZNF318		SNV							ENST00000318149	protein_coding	getma.org/?cm=var&var=hg19,6,43322920,G,T&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		P/T		T	neutral	2230/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1&re=1049&var=P718T					YES	ZNF318,missense_variant,p.Pro718Thr,ENST00000361428,NM_014345.2;ZNF318,missense_variant,p.Pro718Thr,ENST00000318149,;ZNF318,missense_variant,p.Pro718Thr,ENST00000605935,;							MODERATE	2152/6840	P718T	ZN318_HUMAN			Transcript		benign(0.061)	.	ENSP00000354964		CCDS4895.2			1	
ZNF831	0	LGGM	GRCh37	20	57769626	57769626	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	21	4	.	.	ENST00000371030.2:c.3552G>T	p.Thr1184=	p.T1184=	ENST00000371030	NM_178457.2	1184	acG/acT	0	1	1	UPI00001D82E4	0		ENST00000371030		ENSG00000124203	16167		25			HGNC	p.T1184T		ZNF831		SNV							ENST00000371030	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		T		T		3552/9404							YES	ZNF831,synonymous_variant,p.=,ENST00000371030,NM_178457.2;							LOW	3552/5034		ZN831_HUMAN			Transcript			.	ENSP00000360069		CCDS42894.1			1	
EIF4G2	0	LGGM	GRCh37	11	10821863	10821863	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	51	4	.	.	ENST00000526148.1:c.1893A>G	p.Lys631=	p.K631=	ENST00000526148	NM_001172705.1	631	aaA/aaG	0	1	1	UPI000013C8BE	0		ENST00000526148		ENSG00000110321	3297		55			HGNC	p.K631K		EIF4G2		SNV							ENST00000525681	protein_coding			Gene3D:1.25.40.180,Pfam_domain:PF02847,PROSITE_profiles:PS51366,hmmpanther:PTHR23253,SMART_domains:SM00544,Superfamily_domains:SSF48371		K		C		2404/4001				Q59G42_HUMAN,Q2TU89_HUMAN,H0YEN8_HUMAN,H0YEC5_HUMAN,H0YDC0_HUMAN,H0YD99_HUMAN,H0YD77_HUMAN,H0YCF8_HUMAN,D3DQV9_HUMAN,B4DZF2_HUMAN			YES	EIF4G2,synonymous_variant,p.=,ENST00000526148,NM_001172705.1;EIF4G2,synonymous_variant,p.=,ENST00000339995,NM_001418.3;EIF4G2,synonymous_variant,p.=,ENST00000525681,;EIF4G2,synonymous_variant,p.=,ENST00000396525,NM_001042559.2;EIF4G2,synonymous_variant,p.=,ENST00000528839,;EIF4G2,synonymous_variant,p.=,ENST00000531180,;EIF4G2,downstream_gene_variant,,ENST00000531416,;EIF4G2,downstream_gene_variant,,ENST00000524932,;EIF4G2,downstream_gene_variant,,ENST00000532082,;EIF4G2,downstream_gene_variant,,ENST00000530211,;EIF4G2,downstream_gene_variant,,ENST00000532570,;EIF4G2,downstream_gene_variant,,ENST00000527419,;EIF4G2,downstream_gene_variant,,ENST00000530702,;EIF4G2,downstream_gene_variant,,ENST00000527526,;SNORD97,downstream_gene_variant,,ENST00000459187,NR_004403.1;RP11-685M7.5,intron_variant,,ENST00000532365,;EIF4G2,intron_variant,,ENST00000532120,;EIF4G2,downstream_gene_variant,,ENST00000525995,;EIF4G2,upstream_gene_variant,,ENST00000534272,;EIF4G2,downstream_gene_variant,,ENST00000531507,;EIF4G2,downstream_gene_variant,,ENST00000525972,;EIF4G2,non_coding_transcript_exon_variant,,ENST00000532383,;EIF4G2,downstream_gene_variant,,ENST00000530564,;EIF4G2,upstream_gene_variant,,ENST00000525606,;EIF4G2,downstream_gene_variant,,ENST00000528562,;EIF4G2,downstream_gene_variant,,ENST00000532152,;EIF4G2,downstream_gene_variant,,ENST00000527015,;EIF4G2,downstream_gene_variant,,ENST00000531647,;EIF4G2,downstream_gene_variant,,ENST00000532349,;EIF4G2,upstream_gene_variant,,ENST00000534470,;EIF4G2,downstream_gene_variant,,ENST00000534605,;							LOW	1893/2724					Transcript			.	ENSP00000433664		CCDS31428.1			1	
RPL6	0	LGGM	GRCh37	12	112843770	112843770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	40	4	.	.	ENST00000424576.2:c.601A>G	p.Ile201Val	p.I201V	ENST00000424576	NM_001024662.1	201	Atc/Gtc	0	1		UPI0000001608	0	getma.org/pdb.php?prot=RL6_HUMAN&from=181&to=288&var=I201V	ENST00000202773		ENSG00000089009	10362		44	-0.195		HGNC	p.I201V	rs761518667	RPL6		SNV							ENST00000424576	protein_coding	getma.org/?cm=var&var=hg19,12,112843770,T,C&fts=all		hmmpanther:PTHR10715,Gene3D:2.30.30.30,Pfam_domain:PF01159,Superfamily_domains:SSF50104		I/V		C	neutral	656/947	1.51E-05	getma.org/?cm=msa&ty=f&p=RL6_HUMAN&rb=181&re=288&var=I201V	tolerated(0.3)	U3KQR5_HUMAN,F8VWR1_HUMAN,F8VU16_HUMAN,F8VZA3_HUMAN,F8VZ45_HUMAN,F8VR69_HUMAN				RPL6,missense_variant,p.Ile201Val,ENST00000424576,NM_001024662.1;RPL6,missense_variant,p.Ile201Val,ENST00000202773,NM_000970.3;RPL6,downstream_gene_variant,,ENST00000550566,;RPL6,downstream_gene_variant,,ENST00000551291,;RPL6,downstream_gene_variant,,ENST00000548343,;RPL6,downstream_gene_variant,,ENST00000549847,;RPL6,downstream_gene_variant,,ENST00000553213,;RPL6,downstream_gene_variant,,ENST00000550238,;RPL6,non_coding_transcript_exon_variant,,ENST00000553205,;RPL6,downstream_gene_variant,,ENST00000546368,;RPL6,downstream_gene_variant,,ENST00000551041,;RPL6,downstream_gene_variant,,ENST00000552455,;RPL6,downstream_gene_variant,,ENST00000549562,;							MODERATE	601/867	I201V	RL6_HUMAN			Transcript		benign(0.006)	.	ENSP00000202773	8.24E-06	CCDS9162.1			1	
SLC35G5	0	LGGM	GRCh37	8	11189214	11189214	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	72	4	.	.	ENST00000382435.4:c.599G>T	p.Gly200Val	p.G200V	ENST00000382435	NM_054028.1	200	gGc/gTc	0	1	1	UPI0000071B8F	0	NA	ENST00000382435		ENSG00000177710	15546		76	0.805		HGNC	p.G200V		SLC35G5		SNV							ENST00000382435	protein_coding	getma.org/?cm=var&var=hg19,8,11189214,G,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR22911:SF32,hmmpanther:PTHR22911		G/V		T	low	818/1321		getma.org/?cm=msa&ty=f&p=S35G5_HUMAN&rb=1&re=200&var=G200V	deleterious(0)				YES	SLC35G5,missense_variant,p.Gly200Val,ENST00000382435,NM_054028.1,NM_001282300.1;MTMR9,downstream_gene_variant,,ENST00000221086,NM_015458.3;							MODERATE	599/1017	G200V	S35G5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000371872		CCDS5980.1			1	
DNAH5	0	LGGM	GRCh37	5	13766134	13766134	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	48	4	.	.	ENST00000265104.4:c.10052A>T	p.Gln3351Leu	p.Q3351L	ENST00000265104	NM_001369.2	3351	cAg/cTg	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=3201&to=3549&var=Q3351L	ENST00000265104		ENSG00000039139	2950		52	1.355		HGNC	p.Q3351L		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13766134,T,A&fts=all		Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		Q/L		A	low	10157/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3201&re=3549&var=Q3351L		O95496_HUMAN			YES	DNAH5,missense_variant,p.Gln3351Leu,ENST00000265104,NM_001369.2;DNAH5,intron_variant,,ENST00000504001,;							MODERATE	10052/13875	Q3351L	DYH5_HUMAN			Transcript		benign(0.003)	.	ENSP00000265104		CCDS3882.1			1	
CACNA2D2	0	LGGM	GRCh37	3	50416566	50416566	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	28	4	.	.	ENST00000479441.1:c.1217G>T	p.Arg406Leu	p.R406L	ENST00000479441		406	cGc/cTc	0	1	1	UPI0000E5A6AF	0	NA	ENST00000479441		ENSG00000007402	1400		32	1.845		HGNC	p.R406L		CACNA2D2		SNV							ENST00000423994	protein_coding	getma.org/?cm=var&var=hg19,3,50416566,C,A&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		R/L		A	low	1217/3453		getma.org/?cm=msa&ty=f&p=CA2D2_HUMAN&rb=291&re=465&var=R406L	deleterious(0)				YES	CACNA2D2,missense_variant,p.Arg406Leu,ENST00000435965,;CACNA2D2,missense_variant,p.Arg406Leu,ENST00000395083,;CACNA2D2,missense_variant,p.Arg406Leu,ENST00000266039,;CACNA2D2,missense_variant,p.Arg406Leu,ENST00000423994,NM_001174051.1;CACNA2D2,missense_variant,p.Arg406Leu,ENST00000429770,NM_006030.2,NM_001005505.1;CACNA2D2,missense_variant,p.Arg337Leu,ENST00000360963,;CACNA2D2,missense_variant,p.Arg406Leu,ENST00000424201,;CACNA2D2,missense_variant,p.Arg406Leu,ENST00000479441,;							MODERATE	1217/3453	R406L	CA2D2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000418081		CCDS54588.1			1	
LEFTY2	0	LGGM	GRCh37	1	226127142	226127142	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	15	4	.	.	ENST00000366820.5:c.656T>C	p.Val219Ala	p.V219A	ENST00000366820	NM_003240.3	219	gTc/gCc	0	1	1	UPI0000136CBB	0	NA	ENST00000366820		ENSG00000143768	3122		19	2.485		HGNC	p.V185A		LEFTY2		SNV			1				ENST00000420304	protein_coding	getma.org/?cm=var&var=hg19,1,226127142,A,G&fts=all		hmmpanther:PTHR11848:SF7,hmmpanther:PTHR11848,PIRSF_domain:PIRSF037402,Prints_domain:PR01427		V/A		G	medium	1005/2287		getma.org/?cm=msa&ty=f&p=LFTY2_HUMAN&rb=14&re=238&var=V219A	deleterious(0)				YES	LEFTY2,missense_variant,p.Val219Ala,ENST00000366820,NM_003240.3;LEFTY2,missense_variant,p.Val185Ala,ENST00000420304,NM_001172425.1;RP4-559A3.6,upstream_gene_variant,,ENST00000513672,;LEFTY2,non_coding_transcript_exon_variant,,ENST00000474493,;							MODERATE	656/1101	V219A	LFTY2_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000355785		CCDS1549.1			1	
CENPF	0	LGGM	GRCh37	1	214802405	214802405	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	47	4	.	.	ENST00000366955.3:c.1085A>G	p.Gln362Arg	p.Q362R	ENST00000366955	NM_016343.3	362	cAa/cGa	0	1	1	UPI00001AE985	0		ENST00000366955		ENSG00000117724	1857		51			HGNC	p.Q362R		CENPF		SNV							ENST00000366955	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874		Q/R		G		1253/10307							YES	CENPF,missense_variant,p.Gln362Arg,ENST00000366955,NM_016343.3;							MODERATE	1085/9345		CENPF_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000355922		CCDS31023.1			1	
MAP2	0	LGGM	GRCh37	2	210558917	210558917	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	76	4	.	.	ENST00000360351.4:c.2023A>G	p.Ser675Gly	p.S675G	ENST00000360351	NM_002374.3	675	Agt/Ggt	0	1	1	UPI000013D119	0	NA	ENST00000360351		ENSG00000078018	6839		80	1.845		HGNC	p.S671G	rs756623045	MAP2		SNV				9.67E-05			ENST00000447185	protein_coding	getma.org/?cm=var&var=hg19,2,210558917,A,G&fts=all		hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377		S/G		G	low	2529/9711		getma.org/?cm=msa&ty=f&p=MAP2_HUMAN&rb=377&re=1505&var=S675G	deleterious_low_confidence(0)	A8MZ31_HUMAN			YES	MAP2,missense_variant,p.Ser675Gly,ENST00000360351,NM_002374.3;MAP2,missense_variant,p.Ser671Gly,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,upstream_gene_variant,,ENST00000475600,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;							MODERATE	2023/5484	S675G	MTAP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353508	8.24E-06	CCDS2384.1			1	
SPATA12	0	LGGM	GRCh37	3	57108206	57108206	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	101	5	.	.	ENST00000334325.1:c.484C>A	p.Arg162Ser	p.R162S	ENST00000334325	NM_181727.1	162	Cgt/Agt	0	1	1	UPI00001A9456	0	NA	ENST00000334325		ENSG00000186451	23221		106	0		HGNC	p.R162S		SPATA12		SNV							ENST00000334325	protein_coding	getma.org/?cm=var&var=hg19,3,57108206,C,A&fts=all				R/S		A	neutral	1159/2413		getma.org/?cm=msa&ty=f&p=SPT12_HUMAN&rb=1&re=188&var=R162S	tolerated_low_confidence(0.21)				YES	SPATA12,missense_variant,p.Arg162Ser,ENST00000334325,NM_181727.1;ARHGEF3,intron_variant,,ENST00000338458,NM_001128615.1;ARHGEF3,intron_variant,,ENST00000468727,;ARHGEF3,intron_variant,,ENST00000468466,;RP11-157F20.3,upstream_gene_variant,,ENST00000607541,;ARHGEF3,intron_variant,,ENST00000477440,;ARHGEF3,intron_variant,,ENST00000477833,;							MODERATE	484/573	R162S	SPT12_HUMAN			Transcript		benign(0.014)	.	ENSP00000335392		CCDS2879.1			1	
KLHL9	0	LGGM	GRCh37	9	21334802	21334802	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	48	5	.	.	ENST00000359039.4:c.57T>C	p.Cys19=	p.C19=	ENST00000359039		19	tgT/tgC	0	1	1	UPI0000049FCF	0		ENST00000359039		ENSG00000198642	18732		53			HGNC	p.C19C		KLHL9		SNV			1				ENST00000359039	protein_coding			PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF68		C		G		578/5710				Q9H8J3_HUMAN,Q7Z350_HUMAN,Q58EZ4_HUMAN			YES	KLHL9,synonymous_variant,p.=,ENST00000359039,;KLHL9,intron_variant,,ENST00000537938,NM_018847.2;							LOW	57/1854		KLHL9_HUMAN			Transcript			.	ENSP00000351933		CCDS6503.1			1	
MON2	0	LGGM	GRCh37	12	62918349	62918349	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	31	5	.	.	ENST00000393632.2:c.1039A>G	p.Lys347Glu	p.K347E	ENST00000393632	NM_001278472.1	347	Aaa/Gaa	0	1		UPI0000D45F87	0	NA	ENST00000393630		ENSG00000061987	29177		36	2.22		HGNC	p.K347E		MON2		SNV							ENST00000280379	protein_coding	getma.org/?cm=var&var=hg19,12,62918349,A,G&fts=all		Pfam_domain:PF12783,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Superfamily_domains:SSF48371		K/E		G	medium	1430/10382		getma.org/?cm=msa&ty=f&p=MON2_HUMAN&rb=300&re=386&var=K347E	deleterious(0)					MON2,missense_variant,p.Lys347Glu,ENST00000393630,;MON2,missense_variant,p.Lys347Glu,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,missense_variant,p.Lys347Glu,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Lys347Glu,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Lys347Glu,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Lys347Glu,ENST00000280379,;MON2,missense_variant,p.Lys347Glu,ENST00000552115,;MON2,3_prime_UTR_variant,,ENST00000547095,;							MODERATE	1039/5157	K347E	MON2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377250					1	
ITGA8	0	LGGM	GRCh37	10	15720775	15720775	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	45	5	.	.	ENST00000378076.3:c.576T>C	p.Ala192=	p.A192=	ENST00000378076	NM_003638.1	192	gcT/gcC	0	1	1	UPI00001D80A0	0		ENST00000378076		ENSG00000077943	6144		50			HGNC	p.A192A		ITGA8		SNV			1				ENST00000378076	protein_coding			Gene3D:3nigC00,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF5,Superfamily_domains:SSF69318		A		G		930/6755							YES	ITGA8,synonymous_variant,p.=,ENST00000378076,NM_003638.1;							LOW	576/3192		ITA8_HUMAN			Transcript			.	ENSP00000367316		CCDS31155.1			1	
ZNF236	0	LGGM	GRCh37	18	74631883	74631883	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	42	5	.	.	ENST00000253159.8:c.3420G>T	p.Val1140=	p.V1140=	ENST00000253159	NM_007345.3	1140	gtG/gtT	0	1	1	UPI0000F6DCCB	0		ENST00000253159		ENSG00000130856	13028		47			HGNC	p.V1140V		ZNF236		SNV							ENST00000253159	protein_coding			hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15		V		T		3618/8124							YES	ZNF236,synonymous_variant,p.=,ENST00000253159,NM_007345.3;ZNF236,synonymous_variant,p.=,ENST00000320610,;ZNF236,synonymous_variant,p.=,ENST00000543926,;ZNF236,downstream_gene_variant,,ENST00000581450,;							LOW	3420/5538		ZN236_HUMAN			Transcript			.	ENSP00000253159		CCDS42447.1			1	
DST	0	LGGM	GRCh37	6	56510931	56510931	+	upstream_gene_variant	5'Flank	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	34	5	.	.				ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		39		3137	HGNC	p.K324M		DST		SNV			1				ENST00000312431	protein_coding							A		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Lys502Met,ENST00000370754,;DST,missense_variant,p.Lys324Met,ENST00000370769,;DST,missense_variant,p.Lys324Met,ENST00000312431,;DST,missense_variant,p.Lys324Met,ENST00000361203,;DST,missense_variant,p.Lys324Met,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Lys324Met,ENST00000421834,;DST,missense_variant,p.Lys364Met,ENST00000520645,;DST,missense_variant,p.Lys502Met,ENST00000449297,;DST,upstream_gene_variant,,ENST00000446842,;DST,upstream_gene_variant,,ENST00000244364,NM_015548.4;DST,upstream_gene_variant,,ENST00000439203,;DST,upstream_gene_variant,,ENST00000370765,NM_001723.5;DST,upstream_gene_variant,,ENST00000518935,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,upstream_gene_variant,,ENST00000518828,;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
FSIP2	0	LGGM	GRCh37	2	186668617	186668617	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	56	5	.	.	ENST00000343098.5:c.14851T>A	p.Ser4951Thr	p.S4951T	ENST00000343098	NM_173651.2	4951	Tct/Act	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		61	0.55		HGNC	p.S4862T		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186668617,T,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		S/T		A	neutral	14584/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=4711&re=4910&var=S4862T						FSIP2,missense_variant,p.Ser4951Thr,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Ser4862Thr,ENST00000424728,;AC008174.3,upstream_gene_variant,,ENST00000436557,;AC008174.3,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;							MODERATE	14584/20724	S4862T	FSIP2_HUMAN			Transcript		possibly_damaging(0.74)	.	ENSP00000401306					1	
TRMT1L	0	LGGM	GRCh37	1	185106744	185106744	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	83	5	.	.	ENST00000367506.5:c.1507G>T	p.Val503Leu	p.V503L	ENST00000367506	NM_001202423.1	503	Gta/Tta	0	1	1	UPI000000DADB	0	getma.org/pdb.php?prot=TRM1L_HUMAN&from=226&to=589&var=V503L	ENST00000367506		ENSG00000121486	16782		88	1.935		HGNC	p.V347L		TRMT1L		SNV							ENST00000367504	protein_coding	getma.org/?cm=var&var=hg19,1,185106744,C,A&fts=all		Pfam_domain:PF02005,PROSITE_profiles:PS51626,hmmpanther:PTHR10631,hmmpanther:PTHR10631:SF1,Superfamily_domains:SSF53335		V/L		A	medium	1776/4392		getma.org/?cm=msa&ty=f&p=TRM1L_HUMAN&rb=226&re=589&var=V503L	tolerated(0.21)				YES	TRMT1L,missense_variant,p.Val347Leu,ENST00000367504,;TRMT1L,missense_variant,p.Val503Leu,ENST00000367506,NM_001202423.1,NM_030934.4;TRMT1L,missense_variant,p.Val127Leu,ENST00000458395,;							MODERATE	1507/2202	V503L	TRM1L_HUMAN			Transcript		benign(0.029)	.	ENSP00000356476		CCDS1366.1			1	
ITK	0	LGGM	GRCh37	5	156655312	156655312	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	28	5	.	.	ENST00000422843.3:c.654A>G	p.Glu218=	p.E218=	ENST00000422843	NM_005546.3	218	gaA/gaG	0	1	1	UPI000004CADA	0		ENST00000422843		ENSG00000113263	6171		33			HGNC	p.E218E		ITK		SNV			1				ENST00000422843	protein_coding			PROSITE_profiles:PS50002,hmmpanther:PTHR24418:SF61,hmmpanther:PTHR24418,Pfam_domain:PF00018,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044		E		G		806/4528				Q7Z318_HUMAN,E5RFR5_HUMAN			YES	ITK,synonymous_variant,p.=,ENST00000422843,NM_005546.3;CTB-4E7.1,upstream_gene_variant,,ENST00000519375,;ITK,non_coding_transcript_exon_variant,,ENST00000519402,;ITK,non_coding_transcript_exon_variant,,ENST00000519759,;							LOW	654/1863		ITK_HUMAN			Transcript			.	ENSP00000398655		CCDS4336.1			1	
PVRL3	0	LGGM	GRCh37	3	110830936	110830936	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	30	5	.	.	ENST00000485303.1:c.220G>A	p.Val74Ile	p.V74I	ENST00000485303	NM_001243286.1	74	Gtt/Att	0	1	1	UPI000004A2B6	0	getma.org/pdb.php?prot=PVRL3_HUMAN&from=30&to=166&var=V74I	ENST00000485303		ENSG00000177707	17664		35	1.595		HGNC	p.V74I		PVRL3		SNV							ENST00000319792	protein_coding	getma.org/?cm=var&var=hg19,3,110830936,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF10,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/I		A	low	495/3664		getma.org/?cm=msa&ty=f&p=PVRL3_HUMAN&rb=30&re=166&var=V74I	tolerated(0.24)				YES	PVRL3,missense_variant,p.Val74Ile,ENST00000485303,NM_001243286.1,NM_015480.2;PVRL3,missense_variant,p.Val51Ile,ENST00000493615,NM_001243288.1;PVRL3,missense_variant,p.Val74Ile,ENST00000319792,;PVRL3,missense_variant,p.Val74Ile,ENST00000486596,;PVRL3,missense_variant,p.Val27Ile,ENST00000461477,;PVRL3,missense_variant,p.Val59Ile,ENST00000481766,;PVRL3,5_prime_UTR_variant,,ENST00000491525,;PVRL3,non_coding_transcript_exon_variant,,ENST00000488016,;PVRL3,non_coding_transcript_exon_variant,,ENST00000470618,;PVRL3,non_coding_transcript_exon_variant,,ENST00000478327,;							MODERATE	220/1650	V74I	PVRL3_HUMAN			Transcript		benign(0.114)	.	ENSP00000418070		CCDS2957.1			1	
MGAM	0	LGGM	GRCh37	7	141770897	141770897	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	70	5	.	.	ENST00000549489.2:c.4618+5629C>G		*1540*	ENST00000549489	NM_004668.2			0	1	1	UPI000183CB7B	0		ENST00000549489		ENSG00000257335	7043		75			HGNC	p.P1722R		MGAM		SNV							ENST00000475668	protein_coding							G		-/6525				Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN			YES	MGAM,missense_variant,p.Pro1722Arg,ENST00000475668,;MGAM,intron_variant,,ENST00000549489,NM_004668.2;							MODIFIER	-/5574		MGA_HUMAN			Transcript			.	ENSP00000447378		CCDS47727.1			1	
ZNF236	0	LGGM	GRCh37	18	74631885	74631885	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	41	5	.	.	ENST00000253159.8:c.3422A>T	p.Gln1141Leu	p.Q1141L	ENST00000253159	NM_007345.3	1141	cAg/cTg	0	1	1	UPI0000F6DCCB	0	NA	ENST00000253159		ENSG00000130856	13028		46	2.015		HGNC	p.Q1141L		ZNF236		SNV							ENST00000253159	protein_coding	getma.org/?cm=var&var=hg19,18,74631885,A,T&fts=all		hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15		Q/L		T	medium	3620/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=1063&re=1180&var=Q1141L	deleterious(0)				YES	ZNF236,missense_variant,p.Gln1141Leu,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Gln1143Leu,ENST00000320610,;ZNF236,missense_variant,p.Gln1141Leu,ENST00000543926,;ZNF236,downstream_gene_variant,,ENST00000581450,;							MODERATE	3422/5538	Q1141L	ZN236_HUMAN			Transcript		benign(0.082)	.	ENSP00000253159		CCDS42447.1			1	
SULT1C3	0	LGGM	GRCh37	2	108863702	108863702	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	74	5	.	.	ENST00000329106.2:c.52T>A	p.Phe18Ile	p.F18I	ENST00000329106	NM_001008743.1	18	Ttt/Att	0	1	1	UPI000004348F	0	getma.org/pdb.php?prot=ST1C3_HUMAN&from=1&to=45&var=F18I	ENST00000329106		ENSG00000196228	33543		79	0		HGNC	p.F18I		SULT1C3		SNV							ENST00000329106	protein_coding	getma.org/?cm=var&var=hg19,2,108863702,T,A&fts=all		hmmpanther:PTHR11783,hmmpanther:PTHR11783:SF39,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		F/I		A	neutral	52/915		getma.org/?cm=msa&ty=f&p=ST1C3_HUMAN&rb=1&re=45&var=F18I	tolerated(0.2)				YES	SULT1C3,missense_variant,p.Phe18Ile,ENST00000376700,;SULT1C3,missense_variant,p.Phe18Ile,ENST00000329106,NM_001008743.1;							MODERATE	52/915	F18I	ST1C3_HUMAN			Transcript		benign(0.011)	.	ENSP00000333310		CCDS33267.1			1	
ACTN2	0	LGGM	GRCh37	1	236891044	236891044	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	43	5	.	.	ENST00000366578.4:c.603A>G	p.Ser201=	p.S201=	ENST00000366578	NM_001278344.1	201	tcA/tcG	0	1	1	UPI0000125088	0		ENST00000366578		ENSG00000077522	164		48			HGNC	p.S201S		ACTN2		SNV			1				ENST00000542672	protein_coding			Superfamily_domains:SSF47576,SMART_domains:SM00033,Gene3D:1.10.418.10,Pfam_domain:PF00307,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF236,PROSITE_profiles:PS50021		S		G		769/4863				B7Z4P8_HUMAN			YES	ACTN2,synonymous_variant,p.=,ENST00000366578,NM_001278344.1,NM_001103.3;ACTN2,synonymous_variant,p.=,ENST00000542672,NM_001278343.1;ACTN2,upstream_gene_variant,,ENST00000546208,;ACTN2,non_coding_transcript_exon_variant,,ENST00000492634,;							LOW	603/2685		ACTN2_HUMAN			Transcript			.	ENSP00000355537		CCDS1613.1			1	
DOCK3	0	LGGM	GRCh37	3	51352530	51352530	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	80	5	.	.	ENST00000266037.9:c.3373G>A	p.Glu1125Lys	p.E1125K	ENST00000266037	NM_004947.4	1125	Gag/Aag	0	1	1	UPI000007412C	0	NA	ENST00000266037		ENSG00000088538	2989		85	2.61		HGNC	p.E1125K		DOCK3		SNV							ENST00000266037	protein_coding	getma.org/?cm=var&var=hg19,3,51352530,G,A&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF66,Superfamily_domains:SSF48371		E/K		A	medium	3396/8755		getma.org/?cm=msa&ty=f&p=DOCK3_HUMAN&rb=1122&re=1630&var=E1125K	deleterious(0.02)				YES	DOCK3,missense_variant,p.Glu1125Lys,ENST00000266037,NM_004947.4;							MODERATE	3373/6093	E1125K	DOCK3_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000266037		CCDS46835.1			1	
TMEM212	0	LGGM	GRCh37	3	171571592	171571592	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	72	5	.	.	ENST00000334567.5:c.495A>T	p.Thr165=	p.T165=	ENST00000334567	NM_001164436.1	165	acA/acT	0	1	1	UPI0000E5AAB5	0		ENST00000334567		ENSG00000186329	34295		77			HGNC	p.T165T		TMEM212		SNV							ENST00000334567	protein_coding			Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF55,Low_complexity_(Seg):seg		T		T		530/1881				H7C098_HUMAN			YES	TMEM212,synonymous_variant,p.=,ENST00000334567,NM_001164436.1;TMEM212,synonymous_variant,p.=,ENST00000450693,;TMEM212,synonymous_variant,p.=,ENST00000420375,;							LOW	495/585		TM212_HUMAN			Transcript			.	ENSP00000334072		CCDS46958.1			1	
CORO6	0	LGGM	GRCh37	17	27945843	27945843	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	15	5	.	.	ENST00000345068.5:c.598C>A	p.Arg200Ser	p.R200S	ENST00000345068		200	Cgc/Agc	0	1	1	UPI0000DA4C55	0	getma.org/pdb.php?prot=CORO6_HUMAN&from=165&to=203&var=R200S	ENST00000345068		ENSG00000167549	21356		20	2.87		HGNC	p.R200S	rs779106213	CORO6		SNV							ENST00000584969	protein_coding	getma.org/?cm=var&var=hg19,17,27945843,G,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF4,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/S		T	medium	812/2603	4.55E-05	getma.org/?cm=msa&ty=f&p=CORO6_HUMAN&rb=165&re=203&var=R200S	deleterious(0)	K7ERF4_HUMAN,J3QRV4_HUMAN			YES	CORO6,missense_variant,p.Arg200Ser,ENST00000345068,;CORO6,missense_variant,p.Arg200Ser,ENST00000388767,NM_032854.3;CORO6,missense_variant,p.Arg200Ser,ENST00000445145,;CORO6,missense_variant,p.Arg200Ser,ENST00000580212,;CORO6,missense_variant,p.Arg200Ser,ENST00000584969,;ANKRD13B,downstream_gene_variant,,ENST00000394859,NM_152345.4;CORO6,upstream_gene_variant,,ENST00000456796,;CORO6,downstream_gene_variant,,ENST00000492276,;CORO6,downstream_gene_variant,,ENST00000584602,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.10,downstream_gene_variant,,ENST00000582367,;CORO6,intron_variant,,ENST00000577909,;CORO6,non_coding_transcript_exon_variant,,ENST00000459686,;CORO6,non_coding_transcript_exon_variant,,ENST00000467534,;ANKRD13B,downstream_gene_variant,,ENST00000487527,;ANKRD13B,downstream_gene_variant,,ENST00000488766,;ANKRD13B,downstream_gene_variant,,ENST00000493506,;CORO6,upstream_gene_variant,,ENST00000469090,;CORO6,upstream_gene_variant,,ENST00000579388,;CORO6,upstream_gene_variant,,ENST00000480954,;							MODERATE	598/1419	R200S	CORO6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000344562	2.48E-05	CCDS11252.2			1	
CCDC36	0	LGGM	GRCh37	3	49294616	49294616	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	68	5	.	.	ENST00000438782.1:c.1686C>T	p.Asp562=	p.D562=	ENST00000438782		562	gaC/gaT	0	1		UPI0000209CD2	0		ENST00000296449		ENSG00000173421	27945		73			HGNC	p.D562D		CCDC36		SNV							ENST00000452691	protein_coding					D		T		2073/2613								CCDC36,synonymous_variant,p.=,ENST00000438782,;CCDC36,synonymous_variant,p.=,ENST00000296449,NM_178173.3;CCDC36,synonymous_variant,p.=,ENST00000452691,NM_001135197.1;RP11-3B7.1,upstream_gene_variant,,ENST00000440528,;RP11-3B7.7,upstream_gene_variant,,ENST00000604776,;							LOW	1686/1785		CCD36_HUMAN			Transcript			.	ENSP00000296449		CCDS33755.2			1	
KAT2B	0	LGGM	GRCh37	3	20178475	20178475	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	32	5	.	.	ENST00000263754.4:c.1791C>G	p.His597Gln	p.H597Q	ENST00000263754	NM_003884.4	597	caC/caG	0	1	1	UPI00002132DE	0	getma.org/pdb.php?prot=KAT2B_HUMAN&from=541&to=624&var=H597Q	ENST00000263754		ENSG00000114166	8638		37	2.19		HGNC	p.H597Q		KAT2B		SNV							ENST00000263754	protein_coding	getma.org/?cm=var&var=hg19,3,20178475,C,G&fts=all		PROSITE_profiles:PS51186,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF116,Gene3D:3.40.630.30,Pfam_domain:PF13508,PIRSF_domain:PIRSF003048,Superfamily_domains:SSF55729		H/Q		G	medium	2246/4833		getma.org/?cm=msa&ty=f&p=KAT2B_HUMAN&rb=541&re=624&var=H597Q	deleterious(0)				YES	KAT2B,missense_variant,p.His597Gln,ENST00000263754,NM_003884.4;MIR3135A,upstream_gene_variant,,ENST00000578460,;KAT2B,non_coding_transcript_exon_variant,,ENST00000468111,;							MODERATE	1791/2499	H597Q	KAT2B_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000263754		CCDS2634.1			1	
LEO1	0	LGGM	GRCh37	15	52239534	52239534	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	54	6	.	.	ENST00000299601.5:c.1851T>A	p.Asp617Glu	p.D617E	ENST00000299601	NM_138792.2	617	gaT/gaA	0	1	1	UPI0000071CA0	0	NA	ENST00000299601		ENSG00000166477	30401		60	0.205		HGNC	p.D617E		LEO1		SNV							ENST00000299601	protein_coding	getma.org/?cm=var&var=hg19,15,52239534,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146		D/E		T	neutral	1912/2193		getma.org/?cm=msa&ty=f&p=LEO1_HUMAN&rb=325&re=666&var=D617E	tolerated(0.12)				YES	LEO1,missense_variant,p.Asp617Glu,ENST00000299601,NM_138792.2;LEO1,missense_variant,p.Asp557Glu,ENST00000315141,NM_001286430.1;MAPK6,upstream_gene_variant,,ENST00000560802,;TMOD3,downstream_gene_variant,,ENST00000558714,;TMOD3,downstream_gene_variant,,ENST00000561408,;TMOD3,downstream_gene_variant,,ENST00000558300,;TMOD3,downstream_gene_variant,,ENST00000559202,;							MODERATE	1851/2001	D617E	LEO1_HUMAN			Transcript		benign(0.032)	.	ENSP00000299601		CCDS10146.1			1	
KCNC3	0	LGGM	GRCh37	19	50826736	50826736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	46	6	.	.	ENST00000477616.1:c.1474A>T	p.Ile492Phe	p.I492F	ENST00000477616	NM_004977.2	492	Att/Ttt	0	1	1	UPI000013EA5D	0	getma.org/pdb.php?prot=KCNC3_HUMAN&from=350&to=538&var=I492F	ENST00000477616		ENSG00000131398	6235		52	2.19		HGNC	p.I492F		KCNC3		SNV			1				ENST00000376959	protein_coding	getma.org/?cm=var&var=hg19,19,50826736,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537:SF123,hmmpanther:PTHR11537,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169		I/F		A	medium	1769/3176		getma.org/?cm=msa&ty=f&p=KCNC3_HUMAN&rb=350&re=538&var=I492F	deleterious(0)				YES	KCNC3,missense_variant,p.Ile492Phe,ENST00000376959,;KCNC3,missense_variant,p.Ile492Phe,ENST00000477616,NM_004977.2;KCNC3,intron_variant,,ENST00000391818,;KCNC3,intron_variant,,ENST00000474951,;							MODERATE	1474/2274	I492F	KCNC3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000434241		CCDS12793.1			1	
FNDC3B	0	LGGM	GRCh37	3	172064148	172064148	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	56	6	.	.	ENST00000336824.4:c.2282C>G	p.Thr761Ser	p.T761S	ENST00000336824	NM_001135095.1	761	aCc/aGc	0	1	1	UPI00001AE8B2	0	getma.org/pdb.php?prot=FND3B_HUMAN&from=671&to=762&var=T761S	ENST00000336824		ENSG00000075420	24670		62	1.04		HGNC	p.T761S		FNDC3B		SNV							ENST00000415807	protein_coding	getma.org/?cm=var&var=hg19,3,172064148,C,G&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		T/S		G	low	2381/7904		getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=671&re=762&var=T761S	tolerated(0.25)				YES	FNDC3B,missense_variant,p.Thr761Ser,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Thr761Ser,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Thr761Ser,ENST00000416957,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000490832,;							MODERATE	2282/3615	T761S	FND3B_HUMAN			Transcript		benign(0.016)	.	ENSP00000338523		CCDS3217.1			1	
PRKCG	0	LGGM	GRCh37	19	54392902	54392902	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	62	6	.	.	ENST00000263431.3:c.296A>G	p.Asn99Ser	p.N99S	ENST00000263431	NM_002739.3	99	aAc/aGc	0	1	1	UPI000000DC69	0	getma.org/pdb.php?prot=KPCG_HUMAN&from=89&to=100&var=N99S	ENST00000263431		ENSG00000126583	9402		68	-0.425		HGNC	p.N99S		PRKCG		SNV			1				ENST00000536044	protein_coding	getma.org/?cm=var&var=hg19,19,54392902,A,G&fts=all		Superfamily_domains:SSF57889,PIRSF_domain:PIRSF000550,Gene3D:3.30.60.20,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64		N/S		G	neutral	578/3133		getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=59&re=130&var=N99S	tolerated(1)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN			YES	PRKCG,missense_variant,p.Asn99Ser,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Asn99Ser,ENST00000540413,;PRKCG,missense_variant,p.Asn99Ser,ENST00000536044,;PRKCG,5_prime_UTR_variant,,ENST00000474397,;PRKCG,5_prime_UTR_variant,,ENST00000479081,;PRKCG,5_prime_UTR_variant,,ENST00000419486,;PRKCG,intron_variant,,ENST00000542049,;							MODERATE	296/2094	N99S	KPCG_HUMAN			Transcript		benign(0)	.	ENSP00000263431		CCDS12867.1			1	
KIAA1683	0	LGGM	GRCh37	19	18377543	18377543	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	35	6	.	.	ENST00000392413.4:c.807C>T	p.Thr269=	p.T269=	ENST00000392413	NM_001145304.1	269	acC/acT	0	1		UPI0000037D35	0		ENST00000600328		ENSG00000130518	29350		41			HGNC	p.T223T		KIAA1683		SNV							ENST00000600359	protein_coding			hmmpanther:PTHR22590,hmmpanther:PTHR22590:SF1		T		A		1001/3819				U3KQN7_HUMAN,U3KQG6_HUMAN				KIAA1683,synonymous_variant,p.=,ENST00000392413,NM_001145304.1;KIAA1683,synonymous_variant,p.=,ENST00000600359,NM_025249.3,NM_001145305.1;KIAA1683,synonymous_variant,p.=,ENST00000600328,;KIAA1683,downstream_gene_variant,,ENST00000608950,;KIAA1683,downstream_gene_variant,,ENST00000593659,;KIAA1683,downstream_gene_variant,,ENST00000595654,;KIAA1683,downstream_gene_variant,,ENST00000599528,;KIAA1683,upstream_gene_variant,,ENST00000599638,;							LOW	807/3543		K1683_HUMAN			Transcript			.	ENSP00000470780		CCDS32958.1			1	
ZNF197	0	LGGM	GRCh37	3	44684964	44684964	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	73	6	.	.	ENST00000396058.1:c.2342A>T	p.Lys781Met	p.K781M	ENST00000396058		781	aAg/aTg	0	1		UPI000013C317	0	getma.org/pdb.php?prot=ZN197_HUMAN&from=776&to=800&var=K781M	ENST00000344387		ENSG00000186448	12988		79	-0.145		HGNC	p.K781M		ZNF197		SNV							ENST00000396058	protein_coding	getma.org/?cm=var&var=hg19,3,44684964,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF280,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/M		T	neutral	2527/3275		getma.org/?cm=msa&ty=f&p=ZN197_HUMAN&rb=756&re=820&var=K781M	deleterious(0.01)	C9JQH5_HUMAN				ZNF197,missense_variant,p.Lys781Met,ENST00000396058,;ZNF197,missense_variant,p.Lys781Met,ENST00000344387,NM_006991.3;ZNF197,intron_variant,,ENST00000383745,NM_001024855.1;ZNF197,intron_variant,,ENST00000383744,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,intron_variant,,ENST00000334075,;							MODERATE	2342/3090	K781M	ZN197_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000345809		CCDS2717.1			1	
MIS12	0	LGGM	GRCh37	17	5392256	5392256	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	52	6	.	.	ENST00000381165.3:c.74A>G	p.Tyr25Cys	p.Y25C	ENST00000381165	NM_024039.2	25	tAc/tGc	0	1	1	UPI0000037DAC	0	NA	ENST00000381165		ENSG00000167842	24967		58	2.32		HGNC	p.Y25C		MIS12		SNV							ENST00000576988	protein_coding	getma.org/?cm=var&var=hg19,17,5392256,A,G&fts=all		Pfam_domain:PF05859,hmmpanther:PTHR14527		Y/C		G	medium	627/2505		getma.org/?cm=msa&ty=f&p=MIS12_HUMAN&rb=8&re=155&var=Y25C	deleterious(0.02)	I3L4K6_HUMAN,I3L244_HUMAN			YES	MIS12,missense_variant,p.Tyr25Cys,ENST00000381165,NM_024039.2,NM_001258220.1,NM_001258219.1,NM_001258217.1;MIS12,missense_variant,p.Tyr25Cys,ENST00000573759,NM_001258218.1;MIS12,missense_variant,p.Tyr25Cys,ENST00000576988,;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,;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,;							MODERATE	74/618	Y25C	MIS12_HUMAN			Transcript		benign(0.138)	.	ENSP00000370557		CCDS11074.1			1	
YIPF3	0	LGGM	GRCh37	6	43480275	43480275	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	25	6	.	.	ENST00000372422.2:c.807G>A	p.Val269=	p.V269=	ENST00000372422	NM_015388.3	269	gtG/gtA	0	1	1	UPI0000037775	0		ENST00000372422		ENSG00000137207	21023		31			HGNC	p.V235V		YIPF3		SNV							ENST00000503972	protein_coding			hmmpanther:PTHR15627,hmmpanther:PTHR15627:SF14		V		T		990/1576				Q5JTD5_HUMAN,D6RGY8_HUMAN			YES	YIPF3,synonymous_variant,p.=,ENST00000372422,NM_015388.3;YIPF3,synonymous_variant,p.=,ENST00000506469,;YIPF3,synonymous_variant,p.=,ENST00000503972,;POLR1C,intron_variant,,ENST00000428025,;LRRC73,upstream_gene_variant,,ENST00000372441,NM_001271882.1,NM_001012974.2;POLR1C,upstream_gene_variant,,ENST00000372389,NM_203290.2;POLR1C,upstream_gene_variant,,ENST00000304004,;POLR1C,upstream_gene_variant,,ENST00000372344,;YIPF3,downstream_gene_variant,,ENST00000511831,;POLR1C,upstream_gene_variant,,ENST00000423780,;YIPF3,downstream_gene_variant,,ENST00000500090,;YIPF3,3_prime_UTR_variant,,ENST00000460547,;YIPF3,3_prime_UTR_variant,,ENST00000510102,;YIPF3,3_prime_UTR_variant,,ENST00000490447,;YIPF3,non_coding_transcript_exon_variant,,ENST00000514627,;YIPF3,non_coding_transcript_exon_variant,,ENST00000503147,;YIPF3,non_coding_transcript_exon_variant,,ENST00000512713,;POLR1C,upstream_gene_variant,,ENST00000455605,;POLR1C,upstream_gene_variant,,ENST00000481352,;YIPF3,downstream_gene_variant,,ENST00000416380,;POLR1C,upstream_gene_variant,,ENST00000488601,;YIPF3,downstream_gene_variant,,ENST00000455768,;YIPF3,downstream_gene_variant,,ENST00000502714,;YIPF3,downstream_gene_variant,,ENST00000460903,;POLR1C,upstream_gene_variant,,ENST00000512472,;YIPF3,downstream_gene_variant,,ENST00000372417,;YIPF3,downstream_gene_variant,,ENST00000488966,;							LOW	807/1053		YIPF3_HUMAN			Transcript			.	ENSP00000361499		CCDS4899.1			1	
TMEM101	0	LGGM	GRCh37	17	42089343	42089343	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	31	6	.	.	ENST00000589334.1:c.727A>T	p.Ser243Cys	p.S243C	ENST00000589334		243	Agt/Tgt	0	1		UPI000006E158	0	NA	ENST00000206380		ENSG00000091947	28653		37	0		HGNC	p.S185C	rs769383566	TMEM101	6.12E-05	SNV							ENST00000542039	protein_coding	getma.org/?cm=var&var=hg19,17,42089343,T,A&fts=all		Pfam_domain:PF15111,hmmpanther:PTHR31034,hmmpanther:PTHR31034:SF1		S/C		A	neutral	752/1536		getma.org/?cm=msa&ty=f&p=TM101_HUMAN&rb=1&re=255&var=S243C	deleterious(0)	K7ERS4_HUMAN,K7EPU9_HUMAN,K7EM72_HUMAN,B4DFS4_HUMAN				TMEM101,missense_variant,p.Ser243Cys,ENST00000589334,;TMEM101,missense_variant,p.Ser243Cys,ENST00000206380,NM_032376.2;TMEM101,missense_variant,p.Ser185Cys,ENST00000542039,;NAGS,downstream_gene_variant,,ENST00000293404,NM_153006.2;NAGS,downstream_gene_variant,,ENST00000589767,;TMEM101,downstream_gene_variant,,ENST00000587529,;TMEM101,downstream_gene_variant,,ENST00000585950,;TMEM101,downstream_gene_variant,,ENST00000586174,;TMEM101,downstream_gene_variant,,ENST00000592127,;TMEM101,downstream_gene_variant,,ENST00000590905,;NAGS,downstream_gene_variant,,ENST00000592915,;							MODERATE	727/774	S243C	TM101_HUMAN			Transcript		benign(0.077)	.	ENSP00000206380	8.24E-06	CCDS11474.1			1	
SLC16A2	0	LGGM	GRCh37	X	73751321	73751321	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	33	6	.	.	ENST00000587091.1:c.1553T>G	p.Leu518Trp	p.L518W	ENST00000587091	NM_006517.4	518	tTg/tGg	0	1	1	UPI000019C3D5	0	NA	ENST00000587091		ENSG00000147100	10923		39	0		HGNC	p.L592W		SLC16A2		SNV			1				ENST00000276033	protein_coding	getma.org/?cm=var&var=hg19,X,73751321,T,G&fts=all		hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF123,PROSITE_profiles:PS50850		L/W		G	neutral	1730/4161		getma.org/?cm=msa&ty=f&p=MOT8_HUMAN&rb=357&re=532&var=L518W	deleterious(0)				YES	SLC16A2,missense_variant,p.Leu592Trp,ENST00000276033,;SLC16A2,missense_variant,p.Leu518Trp,ENST00000587091,NM_006517.4;SLC16A2,3_prime_UTR_variant,,ENST00000590447,;							MODERATE	1553/1620	L518W	MOT8_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000465734		CCDS14426.2			1	
RIN2	0	LGGM	GRCh37	20	19977399	19977399	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	66	6	.	.	ENST00000255006.6:c.2424G>C	p.Leu808=	p.L808=	ENST00000255006	NM_018993.3	808	ctG/ctC	0	1	1	UPI00004709D0	0		ENST00000255006		ENSG00000132669	18750		72			HGNC	p.L326L		RIN2		SNV			1				ENST00000440354	protein_coding			hmmpanther:PTHR23101,hmmpanther:PTHR23101:SF51,SMART_domains:SM00167,Superfamily_domains:0044157		L		C		2573/4505							YES	RIN2,synonymous_variant,p.=,ENST00000255006,NM_018993.3,NM_001242581.1;RIN2,synonymous_variant,p.=,ENST00000440354,;RIN2,non_coding_transcript_exon_variant,,ENST00000484638,;							LOW	2424/2835		RIN2_HUMAN			Transcript			.	ENSP00000255006		CCDS56182.1			1	
ADD1	0	LGGM	GRCh37	4	2930137	2930137	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	71	7	.	.	ENST00000264758.7:c.2194G>C	p.Ala732Pro	p.A732P	ENST00000264758	NM_014189.3	732	Gcc/Ccc	0	1		UPI0000125501	0	NA	ENST00000398129		ENSG00000087274	243		78	0.345		HGNC	p.A732P		ADD1		SNV							ENST00000264758	protein_coding	getma.org/?cm=var&var=hg19,4,2930137,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10672,hmmpanther:PTHR10672:SF4		A/P		C	neutral	2121/3787		getma.org/?cm=msa&ty=f&p=ADDA_HUMAN&rb=530&re=729&var=A701P	tolerated_low_confidence(0.12)	Q4TT76_HUMAN,D6RAH3_HUMAN				ADD1,missense_variant,p.Ala732Pro,ENST00000264758,NM_014189.3;ADD1,missense_variant,p.Ala701Pro,ENST00000446856,NM_001119.4;ADD1,missense_variant,p.Ala701Pro,ENST00000398129,;ADD1,missense_variant,p.Ala438Pro,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,;							MODERATE	2101/2214	A701P	ADDA_HUMAN			Transcript		unknown(0)	.	ENSP00000381197		CCDS43205.1			1	
MUC4	0	LGGM	GRCh37	3	195513079	195513079	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	79	7	.	.	ENST00000463781.3:c.5372C>A	p.Thr1791Asn	p.T1791N	ENST00000463781	NM_018406.6	1791	aCc/aAc	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		86	0.55		HGNC	p.T1791N	rs570294509	MUC4		SNV							ENST00000477086	protein_coding	getma.org/?cm=var&var=hg19,3,195513079,G,T&fts=all	C:0	hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T/N		T	neutral	5832/17110	0.000268	getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=T1791N		O75456_HUMAN,E9PDY6_HUMAN	C:0	C:0	YES	MUC4,missense_variant,p.Thr1791Asn,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Thr1791Asn,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Thr1791Asn,ENST00000478156,;MUC4,missense_variant,p.Thr1791Asn,ENST00000466475,;MUC4,missense_variant,p.Thr1791Asn,ENST00000477756,;MUC4,missense_variant,p.Thr1791Asn,ENST00000477086,;MUC4,missense_variant,p.Thr1791Asn,ENST00000480843,;MUC4,missense_variant,p.Thr1791Asn,ENST00000462323,;MUC4,missense_variant,p.Thr1791Asn,ENST00000470451,;MUC4,missense_variant,p.Thr1791Asn,ENST00000479406,;		C:0.0002					MODERATE	5372/16239	T1791N			C:0	Transcript		possibly_damaging(0.892)	.	ENSP00000417498	3.38E-05	CCDS54700.1		C:0.001	1	
PRKDC	0	LGGM	GRCh37	8	48710852	48710852	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	101	7	.	.	ENST00000314191.2:c.10401A>T	p.Leu3467Phe	p.L3467F	ENST00000314191	NM_006904.6	3467	ttA/ttT	0	1	1	UPI000045790C	0	NA	ENST00000314191		ENSG00000253729	9413		108	2.295		HGNC	p.L3467F		PRKDC		SNV			1				ENST00000314191	protein_coding	getma.org/?cm=var&var=hg19,8,48710852,T,A&fts=all		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF02259		L/F		A	medium	10458/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=3023&re=3470&var=L3468F		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Leu3467Phe,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Leu3467Phe,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;							MODERATE	10401/12384	L3468F	PRKDC_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000313420					1	
PCNXL3	0	LGGM	GRCh37	11	65385721	65385721	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	40	7	.	.	ENST00000355703.3:c.888C>G	p.Gly296=	p.G296=	ENST00000355703	NM_032223.2	296	ggC/ggG	0	1	1	UPI0000405B22	0		ENST00000355703		ENSG00000197136	18760		47			HGNC	p.G296G		PCNXL3		SNV							ENST00000355703	protein_coding			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF4		G		G		1427/7105							YES	PCNXL3,synonymous_variant,p.=,ENST00000355703,NM_032223.2;MAP3K11,upstream_gene_variant,,ENST00000309100,NM_002419.3;MAP3K11,upstream_gene_variant,,ENST00000526293,;MAP3K11,upstream_gene_variant,,ENST00000529839,;PCNXL3,upstream_gene_variant,,ENST00000531045,;MAP3K11,upstream_gene_variant,,ENST00000527304,;MAP3K11,upstream_gene_variant,,ENST00000524856,;							LOW	888/6105		PCX3_HUMAN			Transcript			.	ENSP00000347931		CCDS44650.1			1	
PKD1L1	0	LGGM	GRCh37	7	47971623	47971623	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	57	7	.	.	ENST00000289672.2:c.429A>T	p.Ala143=	p.A143=	ENST00000289672	NM_138295.3	143	gcA/gcT	0	1	1	UPI0000130FA9	0		ENST00000289672		ENSG00000158683	18053		64			HGNC	p.A143A		PKD1L1		SNV							ENST00000289672	protein_coding					A		A		480/9092							YES	PKD1L1,synonymous_variant,p.=,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;							LOW	429/8550		PK1L1_HUMAN			Transcript			.	ENSP00000289672		CCDS34633.1			1	
TBCCD1	0	LGGM	GRCh37	3	186272469	186272469	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	30	7	.	.	ENST00000424280.1:c.1118A>T	p.His373Leu	p.H373L	ENST00000424280	NM_001134415.1	373	cAc/cTc	0	1		UPI0000073055	0	getma.org/pdb.php?prot=TBCC1_HUMAN&from=329&to=446&var=H373L	ENST00000338733		ENSG00000113838	25546		37	1.7		HGNC	p.H373L		TBCCD1		SNV							ENST00000338733	protein_coding	getma.org/?cm=var&var=hg19,3,186272469,T,A&fts=all		PROSITE_profiles:PS51329,hmmpanther:PTHR16052,Gene3D:2.160.20.70,Pfam_domain:PF07986,SMART_domains:SM00673,Superfamily_domains:SSF69340		H/L		A	low	1247/2441		getma.org/?cm=msa&ty=f&p=TBCC1_HUMAN&rb=329&re=446&var=H373L	tolerated(0.48)	C9J4M0_HUMAN				TBCCD1,missense_variant,p.His373Leu,ENST00000424280,NM_001134415.1;TBCCD1,missense_variant,p.His373Leu,ENST00000338733,NM_018138.3;TBCCD1,missense_variant,p.His277Leu,ENST00000446782,;TBCCD1,downstream_gene_variant,,ENST00000413695,;TBCCD1,downstream_gene_variant,,ENST00000430560,;TBCCD1,upstream_gene_variant,,ENST00000479590,;							MODERATE	1118/1674	H373L	TBCC1_HUMAN			Transcript		benign(0.063)	.	ENSP00000341652		CCDS3276.1			1	
YAE1D1	0	LGGM	GRCh37	7	39610192	39610192	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	59	7	.	.	ENST00000223273.2:c.217A>G	p.Ile73Val	p.I73V	ENST00000223273	NM_020192.3	73	Att/Gtt	0	1	1	UPI0000074023	0	NA	ENST00000223273		ENSG00000241127	24857		66	1.385		HGNC	p.I73V		YAE1D1		SNV							ENST00000432096	protein_coding	getma.org/?cm=var&var=hg19,7,39610192,A,G&fts=all		hmmpanther:PTHR18829,hmmpanther:PTHR18829:SF0,Pfam_domain:PF09811		I/V		G	low	260/899		getma.org/?cm=msa&ty=f&p=YAED1_HUMAN&rb=1&re=200&var=I73V	tolerated(0.19)				YES	YAE1D1,missense_variant,p.Ile73Val,ENST00000432096,NM_001282446.1;YAE1D1,missense_variant,p.Ile73Val,ENST00000223273,NM_020192.3;YAE1D1,missense_variant,p.Ile73Val,ENST00000448268,;AC011290.4,upstream_gene_variant,,ENST00000439751,;YAE1D1,downstream_gene_variant,,ENST00000469737,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000485025,;YAE1D1,non_coding_transcript_exon_variant,,ENST00000474392,;AC011290.5,upstream_gene_variant,,ENST00000438427,;							MODERATE	217/681	I73V	YAED1_HUMAN			Transcript		benign(0.095)	.	ENSP00000223273		CCDS5459.1			1	
SPAG6	0	LGGM	GRCh37	10	22690124	22690124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	49	7	.	.	ENST00000376624.3:c.1232G>T	p.Cys411Phe	p.C411F	ENST00000376624	NM_012443.3	411	tGt/tTt	0	1	1	UPI0000073ED7	0	NA	ENST00000376624		ENSG00000077327	11215		56	3.045		HGNC	p.C172F		SPAG6		SNV							ENST00000376601	protein_coding	getma.org/?cm=var&var=hg19,10,22690124,G,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23314,hmmpanther:PTHR23314:SF1,Superfamily_domains:SSF48371		C/F		T	medium	1374/2605		getma.org/?cm=msa&ty=f&p=SPAG6_HUMAN&rb=366&re=509&var=C411F	deleterious(0)				YES	SPAG6,missense_variant,p.Cys487Phe,ENST00000376603,;SPAG6,missense_variant,p.Cys411Phe,ENST00000376624,NM_012443.3,NM_001253855.1;SPAG6,missense_variant,p.Cys411Phe,ENST00000313311,NM_172242.2;SPAG6,missense_variant,p.Cys386Phe,ENST00000538630,NM_001253854.1;SPAG6,missense_variant,p.Cys172Phe,ENST00000376601,;SPAG6,missense_variant,p.Cys172Phe,ENST00000456231,;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,non_coding_transcript_exon_variant,,ENST00000490361,;SPAG6,non_coding_transcript_exon_variant,,ENST00000487973,;SPAG6,non_coding_transcript_exon_variant,,ENST00000488555,;							MODERATE	1232/1530	C411F	SPAG6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000365811		CCDS7139.1			1	
MMP10	0	LGGM	GRCh37	11	102643723	102643723	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	68	7	.	.	ENST00000279441.4:c.1081G>C	p.Ala361Pro	p.A361P	ENST00000279441	NM_002425.2	361	Gcc/Ccc	0	1	1	UPI00000422C0	0	getma.org/pdb.php?prot=MMP10_HUMAN&from=339&to=382&var=A361P	ENST00000279441		ENSG00000166670	7156		75	3.245		HGNC	p.A361P		MMP10		SNV							ENST00000279441	protein_coding	getma.org/?cm=var&var=hg19,11,102643723,C,G&fts=all		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		A/P		G	medium	1118/1758		getma.org/?cm=msa&ty=f&p=MMP10_HUMAN&rb=339&re=382&var=A361P	deleterious(0)				YES	MMP10,missense_variant,p.Ala361Pro,ENST00000279441,NM_002425.2;WTAPP1,intron_variant,,ENST00000371455,;							MODERATE	1081/1431	A361P	MMP10_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000279441		CCDS8321.1			1	
ANAPC5	0	LGGM	GRCh37	12	121756333	121756333	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	76	7	.	.	ENST00000261819.3:c.1716G>A	p.Gln572=	p.Q572=	ENST00000261819	NM_016237.4	572	caG/caA	0	1	1	UPI000006DF80	0		ENST00000261819		ENSG00000089053	15713		83			HGNC	p.Q238Q		ANAPC5		SNV							ENST00000535482	protein_coding			hmmpanther:PTHR12830,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		Q		T		1838/2513				Q49A41_HUMAN,F5GZ05_HUMAN,F5GY68_HUMAN,B4DFK4_HUMAN			YES	ANAPC5,synonymous_variant,p.=,ENST00000261819,NM_016237.4;ANAPC5,synonymous_variant,p.=,ENST00000541887,;ANAPC5,synonymous_variant,p.=,ENST00000441917,NM_001137559.1;ANAPC5,synonymous_variant,p.=,ENST00000535482,;ANAPC5,synonymous_variant,p.=,ENST00000344395,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000544314,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000545218,;ANAPC5,synonymous_variant,p.=,ENST00000539079,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000534976,;ANAPC5,non_coding_transcript_exon_variant,,ENST00000535641,;ANAPC5,downstream_gene_variant,,ENST00000366333,;							LOW	1716/2268		APC5_HUMAN			Transcript			.	ENSP00000261819		CCDS9220.1			1	
SORCS1	0	LGGM	GRCh37	10	108589402	108589402	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	46	7	.	.	ENST00000344440.6:c.656A>T	p.Lys219Met	p.K219M	ENST00000344440	NM_001206571.1	219	aAg/aTg	0	1		UPI00001AE866	0	getma.org/pdb.php?prot=SORC1_HUMAN&from=201&to=400&var=K219M	ENST00000263054		ENSG00000108018	16697		53	1.955		HGNC	p.K219M		SORCS1		SNV							ENST00000263054	protein_coding	getma.org/?cm=var&var=hg19,10,108589402,T,A&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296		K/M		A	medium	664/7272		getma.org/?cm=msa&ty=f&p=SORC1_HUMAN&rb=201&re=400&var=K219M	deleterious(0)					SORCS1,missense_variant,p.Lys219Met,ENST00000263054,NM_001206570.1,NM_052918.4;SORCS1,missense_variant,p.Lys219Met,ENST00000344440,NM_001206571.1,NM_001206569.1,NM_001013031.2,NM_001206572.1;							MODERATE	656/3507	K219M	SORC1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000263054		CCDS7559.1			1	
LCTL	0	LGGM	GRCh37	15	66845362	66845362	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	81	7	.	.	ENST00000341509.5:c.1157C>A	p.Ser386Tyr	p.S386Y	ENST00000341509	NM_207338.3	386	tCt/tAt	0	1	1	UPI00002520EC	0	getma.org/pdb.php?prot=LCTL_HUMAN&from=33&to=503&var=S386Y	ENST00000341509		ENSG00000188501	15583		88	1.24		HGNC	p.S213Y		LCTL		SNV							ENST00000537670	protein_coding	getma.org/?cm=var&var=hg19,15,66845362,G,T&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF00232,hmmpanther:PTHR10353,hmmpanther:PTHR10353:SF24,Superfamily_domains:SSF51445		S/Y		T	low	1289/3147		getma.org/?cm=msa&ty=f&p=LCTL_HUMAN&rb=33&re=503&var=S386Y	tolerated(1)	B3KQY0_HUMAN			YES	LCTL,missense_variant,p.Ser386Tyr,ENST00000341509,NM_207338.3;LCTL,missense_variant,p.Ser213Tyr,ENST00000537670,NM_001278562.1;ZWILCH,downstream_gene_variant,,ENST00000307897,NM_017975.3,NM_001287823.1;ZWILCH,downstream_gene_variant,,ENST00000446801,NM_001287821.1;ZWILCH,downstream_gene_variant,,ENST00000535141,;LCTL,3_prime_UTR_variant,,ENST00000565875,;							MODERATE	1157/1704	S386Y	LCTL_HUMAN			Transcript		benign(0.073)	.	ENSP00000343490		CCDS10220.1			1	
C7orf60	0	LGGM	GRCh37	7	112535670	112535670	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	61	8	.	.	ENST00000297145.4:c.427G>C	p.Gly143Arg	p.G143R	ENST00000297145	NM_152556.2	143	Ggt/Cgt	0	1	1	UPI000020F946	0	NA	ENST00000297145		ENSG00000164603	26475		69	-0.69		HGNC	p.G143R		C7orf60		SNV							ENST00000297145	protein_coding	getma.org/?cm=var&var=hg19,7,112535670,C,G&fts=all		HAMAP:MF_03044,hmmpanther:PTHR21008		G/R		G	neutral	593/3981		getma.org/?cm=msa&ty=f&p=CG060_HUMAN&rb=1&re=200&var=G143R	tolerated(0.57)				YES	C7orf60,missense_variant,p.Gly143Arg,ENST00000297145,NM_152556.2;C7orf60,missense_variant,p.Gly125Arg,ENST00000432572,;C7orf60,non_coding_transcript_exon_variant,,ENST00000485446,;							MODERATE	427/1218	G143R	BMT2_HUMAN			Transcript		benign(0.004)	.	ENSP00000297145		CCDS43634.1			1	
DNHD1	0	LGGM	GRCh37	11	6568700	6568700	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	43	8	.	.	ENST00000254579.6:c.6531G>A	p.Glu2177=	p.E2177=	ENST00000254579	NM_144666.2	2177	gaG/gaA	0	1	1	UPI0001929529	0		ENST00000254579		ENSG00000179532	26532		51			HGNC	p.E2177E		DNHD1		SNV							ENST00000527990	protein_coding			hmmpanther:PTHR10676:SF244,hmmpanther:PTHR10676		E		A		7095/14862							YES	DNHD1,synonymous_variant,p.=,ENST00000254579,NM_144666.2;DNHD1,synonymous_variant,p.=,ENST00000527990,;DNHD1,3_prime_UTR_variant,,ENST00000532027,;DNHD1,non_coding_transcript_exon_variant,,ENST00000533649,;DNHD1,intron_variant,,ENST00000534210,;							LOW	6531/14262		DNHD1_HUMAN			Transcript			.	ENSP00000254579		CCDS44532.1			1	
PLEKHM2	0	LGGM	GRCh37	1	16047857	16047857	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	34	8	.	.	ENST00000375799.3:c.686C>A	p.Pro229Gln	p.P229Q	ENST00000375799	NM_015164.2	229	cCg/cAg	0	1	1	UPI00001C1D9C	0	NA	ENST00000375799		ENSG00000116786	29131		42	0		HGNC	p.P229Q		PLEKHM2		SNV							ENST00000375799	protein_coding	getma.org/?cm=var&var=hg19,1,16047857,C,A&fts=all				P/Q		A	neutral	913/4122		getma.org/?cm=msa&ty=f&p=PKHM2_HUMAN&rb=158&re=357&var=P229Q	tolerated_low_confidence(0.75)				YES	PLEKHM2,missense_variant,p.Pro229Gln,ENST00000375799,NM_015164.2;PLEKHM2,intron_variant,,ENST00000375793,;RP11-288I21.1,downstream_gene_variant,,ENST00000453804,;PLEKHM2,downstream_gene_variant,,ENST00000462455,;							MODERATE	686/3060	P229Q	PKHM2_HUMAN			Transcript		benign(0.099)	.	ENSP00000364956		CCDS44063.1			1	
PP2D1	0	LGGM	GRCh37	3	20026929	20026929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	81	8	.	.	ENST00000389050.4:c.1836C>A	p.Asp612Glu	p.D612E	ENST00000389050	NM_001252657.1	612	gaC/gaA	0	1	1	UPI000164284E	0		ENST00000389050		ENSG00000183977	28406		89			HGNC	p.D612E		PP2D1		SNV							ENST00000389050	protein_coding			Gene3D:3.60.40.10,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF245,SMART_domains:SM00332,Superfamily_domains:SSF81606		D/E		T		2094/2151			tolerated(0.12)				YES	PP2D1,missense_variant,p.Asp612Glu,ENST00000389050,NM_001252657.1;RAB5A,downstream_gene_variant,,ENST00000273047,NM_004162.4;RAB5A,downstream_gene_variant,,ENST00000422242,;PP2D1,intron_variant,,ENST00000333083,;RAB5A,downstream_gene_variant,,ENST00000446547,;RAB5A,downstream_gene_variant,,ENST00000473608,;							MODERATE	1836/1893		PP2D1_HUMAN			Transcript		benign(0.317)	.	ENSP00000373702		CCDS58817.1			1	
SPAG16	0	LGGM	GRCh37	2	214878680	214878680	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	53	8	.	.	ENST00000331683.5:c.1406G>T	p.Arg469Ile	p.R469I	ENST00000331683	NM_024532.4	469	aGa/aTa	0	1	1	UPI00001AFF12	0	getma.org/pdb.php?prot=SPG16_HUMAN&from=468&to=506&var=R469I	ENST00000331683		ENSG00000144451	23225		61	2.06		HGNC	p.R469I		SPAG16		SNV							ENST00000331683	protein_coding	getma.org/?cm=var&var=hg19,2,214878680,G,T&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR14604:SF3,hmmpanther:PTHR14604,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/I		T	medium	1501/2177		getma.org/?cm=msa&ty=f&p=SPG16_HUMAN&rb=468&re=506&var=R469I	deleterious(0.03)	Q53TL7_HUMAN,Q53TF1_HUMAN,Q53SC3_HUMAN,Q53RV6_HUMAN,Q53RF0_HUMAN,Q53R35_HUMAN,Q53QP6_HUMAN			YES	SPAG16,missense_variant,p.Arg469Ile,ENST00000331683,NM_024532.4;SPAG16,missense_variant,p.Arg375Ile,ENST00000374309,;SPAG16,missense_variant,p.Arg93Ile,ENST00000451561,;SPAG16,non_coding_transcript_exon_variant,,ENST00000480494,;SPAG16,3_prime_UTR_variant,,ENST00000452556,;SPAG16,3_prime_UTR_variant,,ENST00000406979,;							MODERATE	1406/1896	R469I	SPG16_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000332592		CCDS2396.1			1	
ADCY1	0	LGGM	GRCh37	7	45650025	45650025	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	84	8	.	.	ENST00000297323.7:c.837G>A	p.Met279Ile	p.M279I	ENST00000297323	NM_021116.2	279	atG/atA	0	1	1	UPI0000199C4A	0	NA	ENST00000297323		ENSG00000164742	232		92	1.87		HGNC	p.M279I		ADCY1		SNV			1				ENST00000297323	protein_coding	getma.org/?cm=var&var=hg19,7,45650025,G,A&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF20,SMART_domains:SM00044		M/I		A	low	859/12503		getma.org/?cm=msa&ty=f&p=ADCY1_HUMAN&rb=230&re=293&var=M279I	deleterious(0.01)	Q8NFM5_HUMAN,D3DVL8_HUMAN			YES	ADCY1,missense_variant,p.Met279Ile,ENST00000297323,NM_021116.2;ADCY1,missense_variant,p.Met54Ile,ENST00000432715,NM_001281768.1;							MODERATE	837/3360	M279I	ADCY1_HUMAN			Transcript		benign(0.096)	.	ENSP00000297323		CCDS34631.1			1	
POLK	0	LGGM	GRCh37	5	74893609	74893609	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	37	8	.	.	ENST00000241436.4:c.2523A>G	p.Thr841=	p.T841=	ENST00000241436	NM_016218.2	841	acA/acG	0	1	1	UPI0000073EF6	0		ENST00000241436		ENSG00000122008	9183		45			HGNC	p.T643T		POLK		SNV							ENST00000352007	protein_coding					T		G		2695/5911				D6RDX9_HUMAN			YES	POLK,synonymous_variant,p.=,ENST00000241436,NM_016218.2;POLK,synonymous_variant,p.=,ENST00000352007,;POLK,synonymous_variant,p.=,ENST00000380481,;POLK,synonymous_variant,p.=,ENST00000508526,;POLK,3_prime_UTR_variant,,ENST00000504026,;CTC-366B18.2,downstream_gene_variant,,ENST00000511329,;POLK,non_coding_transcript_exon_variant,,ENST00000506928,;POLK,3_prime_UTR_variant,,ENST00000514141,;POLK,3_prime_UTR_variant,,ENST00000505975,;POLK,3_prime_UTR_variant,,ENST00000510815,;POLK,3_prime_UTR_variant,,ENST00000503479,;POLK,3_prime_UTR_variant,,ENST00000509126,;POLK,3_prime_UTR_variant,,ENST00000511527,;POLK,non_coding_transcript_exon_variant,,ENST00000502567,;POLK,non_coding_transcript_exon_variant,,ENST00000505069,;							LOW	2523/2613		POLK_HUMAN			Transcript			.	ENSP00000241436		CCDS4030.1			1	
SMG5	0	LGGM	GRCh37	1	156237338	156237338	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	51	8	.	.	ENST00000361813.5:c.1040A>G	p.Tyr347Cys	p.Y347C	ENST00000361813	NM_015327.2	347	tAt/tGt	0	1	1	UPI0000050C24	0	NA	ENST00000361813		ENSG00000198952	24644		59	1.5		HGNC	p.Y347C	rs374832304	SMG5		SNV	C:0						ENST00000361813	protein_coding	getma.org/?cm=var&var=hg19,1,156237338,T,C&fts=all		Pfam_domain:PF10373,hmmpanther:PTHR15696,hmmpanther:PTHR15696:SF1,Superfamily_domains:SSF48452		Y/C	C:0.0001	C	low	1185/4559		getma.org/?cm=msa&ty=f&p=SMG5_HUMAN&rb=197&re=433&var=Y347C	tolerated(0.28)				YES	SMG5,missense_variant,p.Tyr347Cys,ENST00000361813,NM_015327.2;SMG5,intron_variant,,ENST00000368267,;SMG5,non_coding_transcript_exon_variant,,ENST00000489907,;							MODERATE	1040/3051	Y347C	SMG5_HUMAN			Transcript		benign(0.001)	.	ENSP00000355261		CCDS1137.1			1	
AKAP11	0	LGGM	GRCh37	13	42876744	42876744	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	51	8	.	.	ENST00000025301.2:c.3862A>G	p.Asn1288Asp	p.N1288D	ENST00000025301	NM_016248.3	1288	Aac/Gac	0	1	1	UPI0000125747	0	NA	ENST00000025301		ENSG00000023516	369		59	1.87		HGNC	p.N1288D		AKAP11		SNV							ENST00000025301	protein_coding	getma.org/?cm=var&var=hg19,13,42876744,A,G&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF3		N/D		G	low	4037/9913		getma.org/?cm=msa&ty=f&p=AKA11_HUMAN&rb=200&re=1899&var=N1288D	tolerated(0.67)	Q6AI61_HUMAN			YES	AKAP11,missense_variant,p.Asn1288Asp,ENST00000025301,NM_016248.3;							MODERATE	3862/5706	N1288D	AKA11_HUMAN			Transcript		possibly_damaging(0.562)	.	ENSP00000025301		CCDS9383.1			1	
AFG3L2	0	LGGM	GRCh37	18	12344148	12344148	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	65	8	.	.	ENST00000269143.3:c.1762G>A	p.Ala588Thr	p.A588T	ENST00000269143	NM_006796.2	588	Gca/Aca	0	1	1	UPI000013D7FF	0	getma.org/pdb.php?prot=AFG32_HUMAN&from=541&to=744&var=A588T	ENST00000269143		ENSG00000141385	315		73	1.245		HGNC	p.A588T	rs374828650	AFG3L2		SNV	T:0.0002		1	9.64E-05			ENST00000269143	protein_coding	getma.org/?cm=var&var=hg19,18,12344148,C,T&fts=all		HAMAP:MF_01458,Pfam_domain:PF01434,hmmpanther:PTHR23076,hmmpanther:PTHR23076:SF45,Superfamily_domains:SSF140990,TIGRFAM_domain:TIGR01241		A/T	T:0	T	low	1994/3247	1.50E-05	getma.org/?cm=msa&ty=f&p=AFG32_HUMAN&rb=541&re=744&var=A588T	deleterious(0.01)	D3DUJ0_HUMAN			YES	AFG3L2,missense_variant,p.Ala588Thr,ENST00000269143,NM_006796.2;TUBB6,3_prime_UTR_variant,,ENST00000586691,;AFG3L2,non_coding_transcript_exon_variant,,ENST00000588893,;							MODERATE	1762/2394	A588T	AFG32_HUMAN			Transcript		benign(0.148)	.	ENSP00000269143	1.65E-05	CCDS11859.1			1	
NUP214	0	LGGM	GRCh37	9	134073508	134073508	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	54	8	.	.	ENST00000359428.5:c.4627C>G	p.Leu1543Val	p.L1543V	ENST00000359428	NM_005085.3	1543	Ctt/Gtt	0	1	1	UPI00001BBB2F	0	NA	ENST00000359428		ENSG00000126883	8064		62	0		HGNC	p.L1543V		NUP214		SNV			1				ENST00000359428	protein_coding	getma.org/?cm=var&var=hg19,9,134073508,C,G&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21		L/V		G	neutral	4771/7600		getma.org/?cm=msa&ty=f&p=NU214_HUMAN&rb=421&re=2088&var=L1543V		H0YDI2_HUMAN,E9PS86_HUMAN			YES	NUP214,missense_variant,p.Leu1543Val,ENST00000359428,NM_005085.3;NUP214,missense_variant,p.Leu1533Val,ENST00000411637,;NUP214,missense_variant,p.Leu1544Val,ENST00000451030,;NUP214,missense_variant,p.Leu369Val,ENST00000483497,;NUP214,missense_variant,p.Leu320Val,ENST00000531600,;RP11-544A12.8,upstream_gene_variant,,ENST00000502188,;NUP214,non_coding_transcript_exon_variant,,ENST00000529286,;NUP214,downstream_gene_variant,,ENST00000465486,;NUP214,downstream_gene_variant,,ENST00000470765,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,downstream_gene_variant,,ENST00000528114,;NUP214,missense_variant,p.Leu396Val,ENST00000453861,;NUP214,downstream_gene_variant,,ENST00000525980,;NUP214,downstream_gene_variant,,ENST00000525384,;NUP214,downstream_gene_variant,,ENST00000524578,;							MODERATE	4627/6273	L1543V	NU214_HUMAN			Transcript		benign(0.248)	.	ENSP00000352400		CCDS6940.1			1	
PVRL4	0	LGGM	GRCh37	1	161047305	161047305	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	97	8	.	.	ENST00000368012.3:c.668G>A	p.Cys223Tyr	p.C223Y	ENST00000368012	NM_030916.2	223	tGt/tAt	0	1	1	UPI000006F072	0	getma.org/pdb.php?prot=PVRL4_HUMAN&from=151&to=234&var=C223Y	ENST00000368012		ENSG00000143217	19688		105	2.515		HGNC	p.C223Y		PVRL4		SNV			1				ENST00000368012	protein_coding	getma.org/?cm=var&var=hg19,1,161047305,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF08205,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF11,Superfamily_domains:SSF48726		C/Y		T	medium	971/3502		getma.org/?cm=msa&ty=f&p=PVRL4_HUMAN&rb=151&re=234&var=C223Y	deleterious(0)	K4PZ75_HUMAN			YES	PVRL4,missense_variant,p.Cys223Tyr,ENST00000368012,NM_030916.2;PVRL4,upstream_gene_variant,,ENST00000453926,;PVRL4,upstream_gene_variant,,ENST00000486694,;							MODERATE	668/1533	C223Y	PVRL4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356991		CCDS1216.1			1	
CEACAM7	0	LGGM	GRCh37	19	42181409	42181409	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	39	8	.	.	ENST00000006724.3:c.729A>T	p.Ser243=	p.S243=	ENST00000006724	NM_006890.3	243	tcA/tcT	0	1	1	UPI000012748E	0		ENST00000006724		ENSG00000007306	1819		47			HGNC	p.S150S		CEACAM7		SNV							ENST00000338196	protein_coding			hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF107		S		A		931/2489							YES	CEACAM7,synonymous_variant,p.=,ENST00000006724,NM_006890.3;CEACAM7,synonymous_variant,p.=,ENST00000401731,;CEACAM7,synonymous_variant,p.=,ENST00000338196,;CEACAM7,synonymous_variant,p.=,ENST00000602225,;							LOW	729/798		CEAM7_HUMAN			Transcript			.	ENSP00000006724		CCDS12583.1			1	
GPR85	0	LGGM	GRCh37	7	112723717	112723717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	64	8	.	.	ENST00000297146.3:c.1060C>A	p.Leu354Ile	p.L354I	ENST00000297146	NM_001146266.1	354	Ctt/Att	0	1	1	UPI0000004048	0	NA	ENST00000297146		ENSG00000164604	4536		72	0		HGNC	p.L354I	rs747158961	GPR85		SNV				9.74E-05			ENST00000297146	protein_coding	getma.org/?cm=var&var=hg19,7,112723717,G,T&fts=all		hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/I		T	neutral	1664/5079		getma.org/?cm=msa&ty=f&p=GPR85_HUMAN&rb=339&re=370&var=L354I	tolerated(0.22)	C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN			YES	GPR85,missense_variant,p.Leu354Ile,ENST00000297146,NM_001146266.1;GPR85,missense_variant,p.Leu354Ile,ENST00000501255,NM_018970.6,NM_001146265.1;GPR85,missense_variant,p.Leu354Ile,ENST00000424100,NM_001146267.1;GPR85,missense_variant,p.Leu354Ile,ENST00000449591,;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,missense_variant,p.Leu354Ile,ENST00000610164,;							MODERATE	1060/1113	L354I	GPR85_HUMAN			Transcript		benign(0.006)	.	ENSP00000297146	8.24E-06	CCDS5758.1			1	
CRISP2	0	LGGM	GRCh37	6	49660581	49660581	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	46	9	.	.	ENST00000339139.4:c.637A>T	p.Asn213Tyr	p.N213Y	ENST00000339139	NM_001261822.1	213	Aac/Tac	0	1	1	UPI000013728C	0	getma.org/pdb.php?prot=CRIS2_HUMAN&from=189&to=243&var=N213Y	ENST00000339139		ENSG00000124490	12024		55	3.35		HGNC	p.N213Y		CRISP2		SNV							ENST00000339139	protein_coding	getma.org/?cm=var&var=hg19,6,49660581,T,A&fts=all		Superfamily_domains:SSF57546,Pfam_domain:PF08562,hmmpanther:PTHR10334,hmmpanther:PTHR10334:SF154,PROSITE_profiles:PS51670		N/Y		A	medium	874/1382		getma.org/?cm=msa&ty=f&p=CRIS2_HUMAN&rb=189&re=243&var=N213Y	deleterious(0)	Q5U8Z9_HUMAN			YES	CRISP2,missense_variant,p.Asn213Tyr,ENST00000339139,NM_001261822.1,NM_001142435.2,NM_001142417.2,NM_003296.3,NM_001142407.2,NM_001142408.2;							MODERATE	637/732	N213Y	CRIS2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000339155		CCDS4928.1			1	
OR4C15	0	LGGM	GRCh37	11	55322187	55322187	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	86	9	.	.	ENST00000314644.2:c.405T>A	p.Ile135=	p.I135=	ENST00000314644	NM_001001920.1	135	atT/atA	0	1	1	UPI00003B288E	0		ENST00000314644		ENSG00000181939	15171		95			HGNC	p.I135I		OR4C15		SNV							ENST00000314644	protein_coding			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF14,Superfamily_domains:SSF81321		I		A		405/1113							YES	OR4C15,synonymous_variant,p.=,ENST00000314644,NM_001001920.1;							LOW	405/1113		OR4CF_HUMAN			Transcript			.	ENSP00000324958		CCDS31501.1			1	
XIRP2	0	LGGM	GRCh37	2	168105907	168105907	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	71	9	.	.	ENST00000409195.1:c.8005T>C	p.Ser2669Pro	p.S2669P	ENST00000409195	NM_152381.5	2669	Tcc/Ccc	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		80	1.6		HGNC	p.S2447P		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168105907,T,C&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		S/P		C	low	8094/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=S2494P		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Ser2669Pro,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Ser2669Pro,ENST00000295237,;XIRP2,missense_variant,p.Ser2447Pro,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;							MODERATE	8005/10650	S2494P				Transcript		benign(0.014)	.	ENSP00000386840		CCDS42769.1			1	
REG4	0	LGGM	GRCh37	1	120345631	120345631	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	87	9	.	.	ENST00000354219.1:c.165+60C>T		*55*	ENST00000354219	NM_001159352.1			0	1		UPI000003EE44	0		ENST00000256585		ENSG00000134193	22977		96			HGNC	p.P75P		REG4		SNV							ENST00000369401	protein_coding							A		-/1357								REG4,synonymous_variant,p.=,ENST00000369401,NM_001159353.1;REG4,intron_variant,,ENST00000354219,NM_001159352.1;REG4,intron_variant,,ENST00000256585,NM_032044.3;REG4,intron_variant,,ENST00000530654,;							MODIFIER	-/477		REG4_HUMAN			Transcript			.	ENSP00000256585		CCDS906.1			1	
KHDRBS2	0	LGGM	GRCh37	6	62688036	62688036	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	55	9	.	.	ENST00000281156.4:c.418C>A	p.Pro140Thr	p.P140T	ENST00000281156	NM_152688.2	140	Cca/Aca	0	1	1	UPI000004D256	0	NA	ENST00000281156		ENSG00000112232	18114		64	2.38		HGNC	p.P140T		KHDRBS2		SNV							ENST00000281156	protein_coding	getma.org/?cm=var&var=hg19,6,62688036,G,T&fts=all		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		P/T		T	medium	697/2332		getma.org/?cm=msa&ty=f&p=KHDR2_HUMAN&rb=61&re=140&var=P140T	deleterious(0.02)				YES	KHDRBS2,missense_variant,p.Pro140Thr,ENST00000281156,NM_152688.2;							MODERATE	418/1050	P140T	KHDR2_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000281156		CCDS4963.1			1	
CCR6	0	LGGM	GRCh37	6	167550421	167550421	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	65	9	.	.	ENST00000341935.5:c.703A>G	p.Thr235Ala	p.T235A	ENST00000341935	NM_031409.3	235	Acg/Gcg	0	1	1	UPI00000008CE	0	getma.org/pdb.php?prot=CCR6_HUMAN&from=63&to=316&var=T235A	ENST00000341935		ENSG00000112486	1607		74	-0.505		HGNC	p.T235A		CCR6		SNV			1				ENST00000400926	protein_coding	getma.org/?cm=var&var=hg19,6,167550421,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF24,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T/A		G	neutral	1255/4018		getma.org/?cm=msa&ty=f&p=CCR6_HUMAN&rb=63&re=316&var=T235A	tolerated(0.76)				YES	CCR6,missense_variant,p.Thr235Ala,ENST00000341935,NM_031409.3;CCR6,missense_variant,p.Thr235Ala,ENST00000400926,NM_004367.5;CCR6,missense_variant,p.Thr235Ala,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;							MODERATE	703/1125	T235A	CCR6_HUMAN			Transcript		benign(0.001)	.	ENSP00000343952		CCDS5298.1			1	
CSPG4	0	LGGM	GRCh37	15	75979828	75979828	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	38	9	.	.	ENST00000308508.5:c.3578T>A	p.Leu1193Gln	p.L1193Q	ENST00000308508	NM_001897.4	1193	cTg/cAg	0	1	1	UPI00001AEEB6	0	NA	ENST00000308508		ENSG00000173546	2466		47	1.61		HGNC	p.L1193Q		CSPG4		SNV							ENST00000308508	protein_coding	getma.org/?cm=var&var=hg19,15,75979828,A,T&fts=all		hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11		L/Q		T	low	3671/8290		getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=395&re=2320&var=L1193Q	tolerated(0.11)				YES	CSPG4,missense_variant,p.Leu1193Gln,ENST00000308508,NM_001897.4;							MODERATE	3578/6969	L1193Q	CSPG4_HUMAN			Transcript		benign(0.439)	.	ENSP00000312506		CCDS10284.1			1	
SCAF11	0	LGGM	GRCh37	12	46316768	46316768	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	90	9	.	.	ENST00000369367.3:c.4076A>G	p.Lys1359Arg	p.K1359R	ENST00000369367	NM_004719.2	1359	aAa/aGa	0	1	1	UPI0000D481F2	0	NA	ENST00000369367		ENSG00000139218	10784		99	1.995		HGNC	p.K1167R		SCAF11		SNV							ENST00000549162	protein_coding	getma.org/?cm=var&var=hg19,12,46316768,T,C&fts=all		hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF3,Low_complexity_(Seg):seg		K/R		C	medium	4310/5265		getma.org/?cm=msa&ty=f&p=SCAFB_HUMAN&rb=694&re=1461&var=K1359R	deleterious(0.04)	F8VXG7_HUMAN			YES	SCAF11,missense_variant,p.Lys1044Arg,ENST00000465950,;SCAF11,missense_variant,p.Lys1359Arg,ENST00000369367,NM_004719.2;SCAF11,missense_variant,p.Lys1359Arg,ENST00000419565,;SCAF11,missense_variant,p.Lys1167Arg,ENST00000549162,;SCAF11,splice_region_variant,,ENST00000547654,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550629,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550893,;SCAF11,downstream_gene_variant,,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000547950,;							MODERATE	4076/4392	K1359R	SCAFB_HUMAN			Transcript		benign(0.132)	.	ENSP00000358374		CCDS8748.2			1	
NFS1	0	LGGM	GRCh37	20	34278427	34278427	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	145	9	.	.	ENST00000374092.4:c.469A>G	p.Lys157Glu	p.K157E	ENST00000374092	NM_021100.4	157	Aaa/Gaa	0	1	1	UPI000013D34D	0	getma.org/pdb.php?prot=NFS1_HUMAN&from=59&to=422&var=K157E	ENST00000374092		ENSG00000244005	15910		154	3.14		HGNC	p.K97E		NFS1		SNV			1				ENST00000397425	protein_coding	getma.org/?cm=var&var=hg19,20,34278427,T,C&fts=all		Superfamily_domains:SSF53383,PIRSF_domain:PIRSF005572,Pfam_domain:PF00266,TIGRFAM_domain:TIGR02006,Gene3D:3.40.640.10,hmmpanther:PTHR11601,hmmpanther:PTHR11601:SF20,HAMAP:MF_00331		K/E		C	medium	540/3012		getma.org/?cm=msa&ty=f&p=NFS1_HUMAN&rb=59&re=422&var=K157E	deleterious(0)	Q5QP19_HUMAN,B4DNL7_HUMAN,A2A2M1_HUMAN			YES	NFS1,missense_variant,p.Lys157Glu,ENST00000374092,NM_021100.4;NFS1,missense_variant,p.Lys97Glu,ENST00000374085,;NFS1,missense_variant,p.Lys97Glu,ENST00000397425,;NFS1,missense_variant,p.Lys97Glu,ENST00000419569,;NFS1,5_prime_UTR_variant,,ENST00000540053,;NFS1,intron_variant,,ENST00000541387,NM_001198989.1;NFS1,downstream_gene_variant,,ENST00000306750,;NFS1,downstream_gene_variant,,ENST00000421540,;NFS1,missense_variant,p.Lys97Glu,ENST00000440385,;NFS1,3_prime_UTR_variant,,ENST00000456462,;NFS1,3_prime_UTR_variant,,ENST00000413203,;							MODERATE	469/1374	K157E	NFS1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000363205		CCDS13262.1			1	
NIPBL	0	LGGM	GRCh37	5	36986387	36986387	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	74	9	.	.	ENST00000282516.8:c.3105A>G	p.Pro1035=	p.P1035=	ENST00000282516	NM_133433.3	1035	ccA/ccG	0	1	1	UPI00003761B5	0		ENST00000282516		ENSG00000164190	28862		83			HGNC	p.P1035P		NIPBL		SNV			1				ENST00000282516	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18		P		G		3604/10435				A2RRA7_HUMAN			YES	NIPBL,synonymous_variant,p.=,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,synonymous_variant,p.=,ENST00000448238,;NIPBL,non_coding_transcript_exon_variant,,ENST00000504430,;							LOW	3105/8415		NIPBL_HUMAN			Transcript			.	ENSP00000282516		CCDS3920.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147259282	147259282	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	74	9	.	.	ENST00000361727.3:c.1830T>C	p.Asn610=	p.N610=	ENST00000361727	NM_014141.5	610	aaT/aaC	0	1	1	UPI00001285FA	0		ENST00000361727		ENSG00000174469	13830		83			HGNC	p.N610N		CNTNAP2		SNV			1				ENST00000361727	protein_coding			PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Superfamily_domains:SSF56496		N		C		2346/9894				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			YES	CNTNAP2,synonymous_variant,p.=,ENST00000361727,NM_014141.5;							LOW	1830/3996		CNTP2_HUMAN			Transcript			.	ENSP00000354778		CCDS5889.1			1	
OIT3	0	LGGM	GRCh37	10	74690308	74690308	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	177	10	.	.	ENST00000334011.5:c.1380T>A	p.Asp460Glu	p.D460E	ENST00000334011	NM_152635.1	460	gaT/gaA	0	1	1	UPI00000389F9	0	getma.org/pdb.php?prot=OIT3_HUMAN&from=267&to=516&var=D460E	ENST00000334011		ENSG00000138315	29953		187	2.775		HGNC	p.D460E		OIT3		SNV							ENST00000334011	protein_coding	getma.org/?cm=var&var=hg19,10,74690308,T,A&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF131,Pfam_domain:PF00100,SMART_domains:SM00241,Prints_domain:PR00023		D/E		A	medium	1598/2365		getma.org/?cm=msa&ty=f&p=OIT3_HUMAN&rb=267&re=516&var=D460E	deleterious(0)				YES	OIT3,missense_variant,p.Asp460Glu,ENST00000334011,NM_152635.1;PLA2G12B,downstream_gene_variant,,ENST00000373032,NM_032562.2;							MODERATE	1380/1638	D460E	OIT3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333900		CCDS7318.1			1	
KIAA1551	0	LGGM	GRCh37	12	32135673	32135673	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	23	10	.	.	ENST00000312561.4:c.1784A>T	p.Gln595Leu	p.Q595L	ENST00000312561	NM_018169.3	595	cAg/cTg	0	1	1	UPI0000577B2F	0	NA	ENST00000312561		ENSG00000174718	25559		33	0.895		HGNC	p.Q595L		KIAA1551		SNV							ENST00000381054	protein_coding	getma.org/?cm=var&var=hg19,12,32135673,A,T&fts=all		hmmpanther:PTHR21604		Q/L		T	low	2198/6228		getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=401&re=600&var=Q595L	tolerated(0.08)	J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,missense_variant,p.Gln595Leu,ENST00000312561,NM_018169.3;KIAA1551,missense_variant,p.Gln595Leu,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;							MODERATE	1784/5244	Q595L	K1551_HUMAN			Transcript		benign(0.288)	.	ENSP00000310338		CCDS8725.2			1	
RIMS1	0	LGGM	GRCh37	6	73000528	73000528	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	86	10	.	.	ENST00000521978.1:c.3701C>A	p.Pro1234His	p.P1234H	ENST00000521978	NM_014989.5	1234	cCt/cAt	0	1	1	UPI00001908FB	0	NA	ENST00000521978		ENSG00000079841	17282		96	0		HGNC	p.P1234H		RIMS1		SNV			1				ENST00000521978	protein_coding	getma.org/?cm=var&var=hg19,6,73000528,C,A&fts=all		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19		P/H		A	neutral	3701/5079		getma.org/?cm=msa&ty=f&p=RIMS1_HUMAN&rb=1051&re=1250&var=P1234H	deleterious(0.02)				YES	RIMS1,missense_variant,p.Pro1234His,ENST00000521978,NM_014989.5;RIMS1,intron_variant,,ENST00000264839,;RIMS1,intron_variant,,ENST00000348717,;RIMS1,intron_variant,,ENST00000491071,;RIMS1,intron_variant,,ENST00000520567,;RIMS1,intron_variant,,ENST00000517960,;RIMS1,intron_variant,,ENST00000518273,;RIMS1,intron_variant,,ENST00000522291,;RIMS1,intron_variant,,ENST00000401910,NM_001168407.1;RIMS1,intron_variant,,ENST00000517433,;RIMS1,intron_variant,,ENST00000523963,NM_001168408.1;RIMS1,intron_variant,,ENST00000517827,NM_001168410.1;RIMS1,intron_variant,,ENST00000425662,NM_001168409.1;RIMS1,intron_variant,,ENST00000453976,;RIMS1,intron_variant,,ENST00000538414,;RIMS1,intron_variant,,ENST00000522211,;RIMS1,intron_variant,,ENST00000370420,;RIMS1,intron_variant,,ENST00000463023,;							MODERATE	3701/5079	P1234H	RIMS1_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000428417		CCDS47449.1			1	
CHN1	0	LGGM	GRCh37	2	175742664	175742664	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	121	10	.	.	ENST00000409900.3:c.453A>G	p.Leu151=	p.L151=	ENST00000409900	NM_001822.5	151	ttA/ttG	0	1	1	UPI000012781D	0		ENST00000409900		ENSG00000128656	1943		131			HGNC	p.L151L		CHN1		SNV			1				ENST00000409156	protein_coding			hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF6,PIRSF_domain:PIRSF038015		L		C		767/2447				C9J3G1_HUMAN			YES	CHN1,synonymous_variant,p.=,ENST00000409900,NM_001822.5;CHN1,synonymous_variant,p.=,ENST00000409156,NM_001025201.3;CHN1,non_coding_transcript_exon_variant,,ENST00000469597,;CHN1,non_coding_transcript_exon_variant,,ENST00000481174,;CHN1,intron_variant,,ENST00000488080,;CHN1,non_coding_transcript_exon_variant,,ENST00000490654,;CHN1,intron_variant,,ENST00000425395,;							LOW	453/1380		CHIN_HUMAN			Transcript			.	ENSP00000386741		CCDS46455.1			1	
HIST1H3D	0	LGGM	GRCh37	6	26197476	26197476	+	start_lost	Translation_Start_Site	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	58	10	.	.	ENST00000356476.2:c.3G>A	p.Met1?	p.M1?	ENST00000356476		1	atG/atA	0	1		UPI00000003C7	0		ENST00000356476		ENSG00000197409	4767		68			HGNC	p.M1I		HIST1H3D		SNV							ENST00000356476	protein_coding			hmmpanther:PTHR11426		M/I		T		3/411			deleterious_low_confidence(0.01)					HIST1H3D,start_lost,p.Met1?,ENST00000377831,NM_003530.4;HIST1H3D,start_lost,p.Met1?,ENST00000356476,;HIST1H2BF,upstream_gene_variant,,ENST00000359985,NM_003522.3;HIST1H2AD,downstream_gene_variant,,ENST00000341023,NM_021065.3;RP1-34B20.4,upstream_gene_variant,,ENST00000405418,;HIST1H1PS1,downstream_gene_variant,,ENST00000404269,;							HIGH	3/411		H31_HUMAN			Transcript		benign(0.38)	.	ENSP00000366999		CCDS4590.1			1	
NPFFR2	0	LGGM	GRCh37	4	73013147	73013147	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	25	10	.	.	ENST00000308744.6:c.1187T>C	p.Met396Thr	p.M396T	ENST00000308744	NM_004885.2	396	aTg/aCg	0	1	1	UPI000012FFBD	0	getma.org/pdb.php?prot=NPFF2_HUMAN&from=164&to=435&var=M396T	ENST00000308744		ENSG00000056291	4525		35	1.46		HGNC	p.M297T		NPFFR2		SNV							ENST00000395999	protein_coding	getma.org/?cm=var&var=hg19,4,73013147,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		M/T		C	low	1285/1922		getma.org/?cm=msa&ty=f&p=NPFF2_HUMAN&rb=164&re=435&var=M396T	tolerated(0.09)	A0PJM9_HUMAN			YES	NPFFR2,missense_variant,p.Met396Thr,ENST00000308744,NM_004885.2;NPFFR2,missense_variant,p.Met297Thr,ENST00000395999,NM_001144756.1;NPFFR2,missense_variant,p.Met294Thr,ENST00000358749,NM_053036.2;NPFFR2,3_prime_UTR_variant,,ENST00000344413,;NPFFR2,non_coding_transcript_exon_variant,,ENST00000506359,;							MODERATE	1187/1569	M396T	NPFF2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000307822		CCDS3551.1			1	
GCNT1	0	LGGM	GRCh37	9	79118252	79118252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	48	10	.	.	ENST00000442371.1:c.955G>A	p.Asp319Asn	p.D319N	ENST00000442371	NM_001097634.1	319	Gat/Aat	0	1		UPI000013CF63	0	getma.org/pdb.php?prot=GCNT1_HUMAN&from=123&to=392&var=D319N	ENST00000376730		ENSG00000187210	4203		58	3.19		HGNC	p.D319N		GCNT1		SNV							ENST00000376730	protein_coding	getma.org/?cm=var&var=hg19,9,79118252,G,A&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF71,Pfam_domain:PF02485		D/N		A	medium	1438/5518		getma.org/?cm=msa&ty=f&p=GCNT1_HUMAN&rb=123&re=392&var=D319N	deleterious(0)					GCNT1,missense_variant,p.Asp319Asn,ENST00000442371,NM_001097634.1;GCNT1,missense_variant,p.Asp319Asn,ENST00000376730,NM_001490.4,NM_001097636.1;GCNT1,missense_variant,p.Asp319Asn,ENST00000444201,NM_001097633.1,NM_001097635.1;GCNT1,missense_variant,p.Asp319Asn,ENST00000536223,;GCNT1,downstream_gene_variant,,ENST00000488136,;GCNT1,downstream_gene_variant,,ENST00000480311,;							MODERATE	955/1287	D319N	GCNT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000365920		CCDS6653.1			1	
NID1	0	LGGM	GRCh37	1	236189363	236189363	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	24	10	.	.	ENST00000264187.6:c.1817C>T	p.Thr606Ile	p.T606I	ENST00000264187	NM_002508.2	606	aCt/aTt	0	1	1	UPI000013D4D9	0	getma.org/pdb.php?prot=NID1_HUMAN&from=428&to=626&var=T606I	ENST00000264187		ENSG00000116962	7821		34	1.845		HGNC	p.T606I		NID1		SNV							ENST00000264187	protein_coding	getma.org/?cm=var&var=hg19,1,236189363,G,A&fts=all		PROSITE_profiles:PS50993,hmmpanther:PTHR10529:SF107,hmmpanther:PTHR10529,Pfam_domain:PF07474,Gene3D:2.40.155.10,SMART_domains:SM00682,Superfamily_domains:SSF54511		T/I		A	low	1900/5864		getma.org/?cm=msa&ty=f&p=NID1_HUMAN&rb=428&re=626&var=T606I	deleterious(0.03)				YES	NID1,missense_variant,p.Thr606Ile,ENST00000264187,NM_002508.2;NID1,missense_variant,p.Thr606Ile,ENST00000366595,;							MODERATE	1817/3744	T606I	NID1_HUMAN			Transcript		benign(0.021)	.	ENSP00000264187		CCDS1608.1			1	
EPG5	0	LGGM	GRCh37	18	43534995	43534995	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	46	10	.	.	ENST00000282041.5:c.373G>T	p.Gly125Ter	p.G125*	ENST00000282041	NM_020964.2	125	Gga/Tga	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		56	0		HGNC	p.G125X		EPG5		SNV			1				ENST00000282041	protein_coding	getma.org/?cm=var&var=hg19,18,43534995,C,A&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		G/*		A	NA	408/12633		NA		Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,stop_gained,p.Gly125Ter,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;							HIGH	373/7740	G125*	EPG5_HUMAN			Transcript			.	ENSP00000282041		CCDS11926.2			1	
DSCAM	0	LGGM	GRCh37	21	41719745	41719745	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	126	10	.	.	ENST00000400454.1:c.1062C>A	p.Leu354=	p.L354=	ENST00000400454	NM_001271534.1	354	ctC/ctA	0	1	1	UPI00000422DF	0		ENST00000400454		ENSG00000171587	3039		136			HGNC	p.L106L		DSCAM		SNV							ENST00000404019	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		L		T		1540/8552							YES	DSCAM,synonymous_variant,p.=,ENST00000400454,NM_001271534.1,NM_001389.3;DSCAM,synonymous_variant,p.=,ENST00000404019,;							LOW	1062/6039		DSCAM_HUMAN			Transcript			.	ENSP00000383303		CCDS42929.1			1	
FAM208B	0	LGGM	GRCh37	10	5773090	5773090	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	79	11	.	.	ENST00000328090.5:c.1128C>G	p.Ser376=	p.S376=	ENST00000328090	NM_017782.4	376	tcC/tcG	0	1	1	UPI00004589BB	0		ENST00000328090		ENSG00000108021	23484		90			HGNC	p.S376S		FAM208B		SNV							ENST00000328090	protein_coding			hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		S		G		1753/8626							YES	FAM208B,synonymous_variant,p.=,ENST00000328090,NM_017782.4;FAM208B,synonymous_variant,p.=,ENST00000380270,;RP11-336A10.2,intron_variant,,ENST00000411512,;FAM208B,downstream_gene_variant,,ENST00000532080,;							LOW	1128/7293		F208B_HUMAN			Transcript			.	ENSP00000328426		CCDS41485.1			1	
OR2AJ1	0	LGGM	GRCh37	1	248097822	248097822	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	70	11	.	.	ENST00000318244.3:c.752A>T	p.Tyr251Phe	p.Y251F	ENST00000318244		251	tAc/tTc	0	1	1	UPI0000061E5C	0		ENST00000318244		ENSG00000177275	15001		81			HGNC	p.Y251F		OR2AJ1		SNV							ENST00000318244	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF214,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/F		T		752/987			tolerated(0.84)				YES	OR2AJ1,missense_variant,p.Tyr251Phe,ENST00000318244,;OR2L13,upstream_gene_variant,,ENST00000366478,NM_175911.2;RP11-438H8.8,downstream_gene_variant,,ENST00000427566,;OR2X1P,upstream_gene_variant,,ENST00000421144,;							MODERATE	752/987		O2AJ1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000325078					1	
ANKRD36C	0	LGGM	GRCh37	2	96594889	96594889	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	112	11	.	.	ENST00000528268.1:c.*96A>G		*32*	ENST00000528268				0	1		UPI00016620F5	0		ENST00000456556		ENSG00000174501	32946		123			HGNC	p.T590A		ANKRD36C		SNV							ENST00000456556	protein_coding			hmmpanther:PTHR24176:SF1,hmmpanther:PTHR24176		T/A		C		1853/5428			tolerated_low_confidence(0.1)	I1Z9D5_HUMAN,I1Z9D4_HUMAN,I1Z9D3_HUMAN,I1Z9D2_HUMAN				ANKRD36C,missense_variant,p.Thr590Ala,ENST00000456556,;ANKRD36C,upstream_gene_variant,,ENST00000419039,;ANKRD36C,upstream_gene_variant,,ENST00000420871,;ANKRD36C,upstream_gene_variant,,ENST00000295246,;ANKRD36C,3_prime_UTR_variant,,ENST00000534304,;ANKRD36C,3_prime_UTR_variant,,ENST00000528268,;							MODERATE	1768/5337		AN36C_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000403302					1	
FYTTD1	0	LGGM	GRCh37	3	197483354	197483354	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	81	11	.	.	ENST00000241502.4:c.161A>G	p.Asn54Ser	p.N54S	ENST00000241502	NM_032288.6	54	aAt/aGt	0	1	1	UPI0000073CEC	0	NA	ENST00000241502		ENSG00000122068	25407		92	1.5		HGNC	p.N54S	rs779511324	FYTTD1	6.06E-05	SNV							ENST00000412924	protein_coding	getma.org/?cm=var&var=hg19,3,197483354,A,G&fts=all		Pfam_domain:PF07078,hmmpanther:PTHR21038		N/S		G	low	383/6866		getma.org/?cm=msa&ty=f&p=UIF_HUMAN&rb=3&re=318&var=N54S	tolerated(0.23)	H9KVC6_HUMAN,H9KVC1_HUMAN,F6VVD0_HUMAN			YES	FYTTD1,missense_variant,p.Asn54Ser,ENST00000241502,NM_032288.6;FYTTD1,missense_variant,p.Asn28Ser,ENST00000415708,;FYTTD1,5_prime_UTR_variant,,ENST00000428395,NM_001011537.2;FYTTD1,5_prime_UTR_variant,,ENST00000424384,;FYTTD1,5_prime_UTR_variant,,ENST00000428738,;FYTTD1,5_prime_UTR_variant,,ENST00000426031,;FYTTD1,missense_variant,p.Asn54Ser,ENST00000412924,;FYTTD1,missense_variant,p.Asn59Ser,ENST00000494309,;FYTTD1,missense_variant,p.Asn54Ser,ENST00000418169,;							MODERATE	161/957	N54S	UIF_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000241502	8.24E-06	CCDS3329.1			1	
OR5AR1	0	LGGM	GRCh37	11	56431227	56431227	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	92	11	.	.	ENST00000302969.2:c.66G>C	p.Gln22His	p.Q22H	ENST00000302969	NM_001004730.1	22	caG/caC	0	1	1	UPI0000041C93	0	NA	ENST00000302969		ENSG00000172459	15260		103	0.89		HGNC	p.Q22H		OR5AR1		SNV							ENST00000302969	protein_coding	getma.org/?cm=var&var=hg19,11,56431227,G,C&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF54,Superfamily_domains:SSF81321		Q/H		C	low	90/1026		getma.org/?cm=msa&ty=f&p=O5AR1_HUMAN&rb=1&re=138&var=Q22H	deleterious(0.03)	B9EIN0_HUMAN			YES	OR5AR1,missense_variant,p.Gln22His,ENST00000302969,NM_001004730.1;							MODERATE	66/933	Q22H	O5AR1_HUMAN			Transcript		benign(0.001)	.	ENSP00000302639		CCDS31535.1			1	
BRWD3	0	LGGM	GRCh37	X	79973177	79973177	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	45	11	.	.	ENST00000373275.4:c.2126G>T	p.Arg709Ile	p.R709I	ENST00000373275	NM_153252.4	709	aGa/aTa	0	1	1	UPI000045785B	0	NA	ENST00000373275		ENSG00000165288	17342		56	2.74		HGNC	p.R709I		BRWD3		SNV			1				ENST00000373275	protein_coding	getma.org/?cm=var&var=hg19,X,79973177,C,A&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF25		R/I		A	medium	2343/11381		getma.org/?cm=msa&ty=f&p=BRWD3_HUMAN&rb=541&re=740&var=R709I	deleterious(0)				YES	BRWD3,missense_variant,p.Arg709Ile,ENST00000373275,NM_153252.4;BRWD3,non_coding_transcript_exon_variant,,ENST00000473691,;BRWD3,non_coding_transcript_exon_variant,,ENST00000497335,;							MODERATE	2126/5409	R709I	BRWD3_HUMAN			Transcript		possibly_damaging(0.655)	.	ENSP00000362372		CCDS14447.1			1	
ZBTB10	0	LGGM	GRCh37	8	81411747	81411747	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	118	12	.	.	ENST00000430430.1:c.991G>C	p.Glu331Gln	p.E331Q	ENST00000430430		331	Gag/Cag	0	1	1	UPI0000E5AEF3	0	NA	ENST00000430430		ENSG00000205189	30953		130	0.55		HGNC	p.E331Q		ZBTB10		SNV							ENST00000430430	protein_coding	getma.org/?cm=var&var=hg19,8,81411747,G,C&fts=all		hmmpanther:PTHR24414,hmmpanther:PTHR24414:SF27		E/Q		C	neutral	1770/10132		getma.org/?cm=msa&ty=f&p=ZBT10_HUMAN&rb=226&re=353&var=E331Q	deleterious(0.03)				YES	ZBTB10,missense_variant,p.Glu331Gln,ENST00000430430,;ZBTB10,missense_variant,p.Glu331Gln,ENST00000426744,NM_023929.4;ZBTB10,missense_variant,p.Glu331Gln,ENST00000455036,NM_001105539.2;ZBTB10,missense_variant,p.Glu39Gln,ENST00000379091,NM_001277145.1;							MODERATE	991/2616	E331Q	ZBT10_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000387462		CCDS47880.1			1	
TLE1	0	LGGM	GRCh37	9	84205901	84205901	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	83	12	.	.	ENST00000376499.3:c.1648G>T	p.Glu550Ter	p.E550*	ENST00000376499	NM_005077.3	550	Gaa/Taa	0	1	1	UPI0000137034	0	NA	ENST00000376499		ENSG00000196781	11837		95	0		HGNC	p.E550X		TLE1		SNV							ENST00000376499	protein_coding	getma.org/?cm=var&var=hg19,9,84205901,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50294,hmmpanther:PTHR10814,SMART_domains:SM00320,Superfamily_domains:SSF50978		E/*		A	NA	2713/3893		NA					YES	TLE1,stop_gained,p.Glu550Ter,ENST00000376499,NM_005077.3;							HIGH	1648/2313	E550*	TLE1_HUMAN			Transcript			.	ENSP00000365682		CCDS6661.1			1	
VWDE	0	LGGM	GRCh37	7	12420120	12420120	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	116	12	.	.	ENST00000275358.3:c.781G>T	p.Gly261Ter	p.G261*	ENST00000275358	NM_001135924.1	261	Gga/Tga	0	1	1	UPI00006C0B98	0	NA	ENST00000275358		ENSG00000146530	21897		128	0		HGNC	p.G261X		VWDE		SNV							ENST00000275358	protein_coding	getma.org/?cm=var&var=hg19,7,12420120,C,A&fts=all				G/*		A	NA	970/5260		NA					YES	VWDE,stop_gained,p.Gly261Ter,ENST00000275358,NM_001135924.1;VWDE,stop_gained,p.Gly261Ter,ENST00000452576,;VWDE,stop_gained,p.Gly261Ter,ENST00000521169,;VWDE,3_prime_UTR_variant,,ENST00000326715,;							HIGH	781/4773	G261*	VWDE_HUMAN			Transcript			.	ENSP00000275358		CCDS47544.1			1	
DOPEY1	0	LGGM	GRCh37	6	83806728	83806728	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	84	12	.	.	ENST00000349129.2:c.32A>T	p.Asp11Val	p.D11V	ENST00000349129	NM_015018.3	11	gAc/gTc	0	1	1	UPI00001C1574	0	NA	ENST00000349129		ENSG00000083097	21194		96	3.24		HGNC	p.D11V		DOPEY1		SNV							ENST00000349129	protein_coding	getma.org/?cm=var&var=hg19,6,83806728,A,T&fts=all		hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042,Pfam_domain:PF04118		D/V		T	medium	292/8210		getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=10&re=305&var=D11V	deleterious(0)				YES	DOPEY1,missense_variant,p.Asp11Val,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Asp11Val,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Asp11Val,ENST00000237163,;DOPEY1,missense_variant,p.Asp11Val,ENST00000536812,;							MODERATE	32/7398	D11V	DOP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000195654		CCDS4996.1			1	
LBR	0	LGGM	GRCh37	1	225594453	225594453	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	51	12	.	.	ENST00000338179.2:c.1396T>C	p.Phe466Leu	p.F466L	ENST00000338179	NM_194442.2	466	Ttt/Ctt	0	1		UPI000012E256	0	NA	ENST00000272163		ENSG00000143815	6518		63	2.86		HGNC	p.F466L		LBR		SNV			1				ENST00000272163	protein_coding	getma.org/?cm=var&var=hg19,1,225594453,A,G&fts=all		Pfam_domain:PF01222,hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF32,Transmembrane_helices:TMhelix		F/L		G	medium	1492/3745		getma.org/?cm=msa&ty=f&p=LBR_HUMAN&rb=183&re=615&var=F466L	deleterious(0.03)	C9JXK0_HUMAN,C9JES9_HUMAN				LBR,missense_variant,p.Phe466Leu,ENST00000338179,NM_194442.2;LBR,missense_variant,p.Phe466Leu,ENST00000272163,NM_002296.3;LBR,missense_variant,p.Phe97Leu,ENST00000424022,;LBR,upstream_gene_variant,,ENST00000441022,;							MODERATE	1396/1848	F466L	LBR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000272163		CCDS1545.1			1	
ZNF304	0	LGGM	GRCh37	19	57868578	57868578	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	66	12	.	.	ENST00000391705.3:c.1341C>T	p.Tyr447=	p.Y447=	ENST00000391705	NM_020657.2	447	taC/taT	0	1		UPI000013CAB8	0		ENST00000282286		ENSG00000131845	13505		78			HGNC	p.Y447Y	rs755061704	ZNF304		SNV							ENST00000282286	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF205,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y		T		1514/4202				M0QZ59_HUMAN				ZNF304,synonymous_variant,p.=,ENST00000391705,NM_020657.2;ZNF304,synonymous_variant,p.=,ENST00000282286,;ZNF304,synonymous_variant,p.=,ENST00000443917,;ZNF304,synonymous_variant,p.=,ENST00000598744,;							LOW	1341/1980		ZN304_HUMAN	0.000302		Transcript			.	ENSP00000282286	1.65E-05	CCDS12950.1			1	
CEACAM18	0	LGGM	GRCh37	19	51986578	51986578	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	67	12	.	.	ENST00000451626.1:c.1164C>T	p.Cys388=	p.C388=	ENST00000451626		388	tgC/tgT	0	1		UPI0002C5E52C	0		ENST00000396477		ENSG00000213822	31949		79			HGNC	p.C388C	COSM3537729	CEACAM18		SNV						1	ENST00000451626	protein_coding							T		-/1476								CEACAM18,synonymous_variant,p.=,ENST00000451626,;CEACAM18,intron_variant,,ENST00000396477,NM_001278392.1;					1		MODIFIER	-/1155		CEA18_HUMAN			Transcript			.	ENSP00000379738					1	
ZNF107	0	LGGM	GRCh37	7	64167757	64167757	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	39	12	.	.	ENST00000395391.1:c.1075A>G	p.Lys359Glu	p.K359E	ENST00000395391		359	Aaa/Gaa	0	1		UPI000000DBC2	0	getma.org/pdb.php?prot=ZN107_HUMAN&from=342&to=367&var=K359E	ENST00000344930		ENSG00000196247	12887		51	-0.005		HGNC	p.K359E	rs750832922,COSM351635	ZNF107		SNV						0,1	ENST00000344930	protein_coding	getma.org/?cm=var&var=hg19,7,64167757,A,G&fts=all		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		K/E		G	neutral	1527/5174		getma.org/?cm=msa&ty=f&p=ZN107_HUMAN&rb=322&re=387&var=K359E	tolerated(1)	Q9H3U2_HUMAN,C9JSF9_HUMAN				ZNF107,missense_variant,p.Lys359Glu,ENST00000395391,;ZNF107,missense_variant,p.Lys359Glu,ENST00000423627,;ZNF107,missense_variant,p.Lys359Glu,ENST00000344930,NM_001013746.1,NM_001282360.1,NM_001282359.1;ZNF107,downstream_gene_variant,,ENST00000360117,NM_016220.3;					0,1		MODERATE	1075/2352	K359E	ZN107_HUMAN			Transcript		benign(0.003)	.	ENSP00000343443	8.24E-06	CCDS5527.1			1	
TMC1	0	LGGM	GRCh37	9	75406829	75406829	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	129	13	.	.	ENST00000297784.5:c.1252A>T	p.Met418Leu	p.M418L	ENST00000297784	NM_138691.2	418	Atg/Ttg	0	1	1	UPI0000161FA9	0	NA	ENST00000297784		ENSG00000165091	16513		142	1.295		HGNC	p.M418L		TMC1		SNV			1				ENST00000297784	protein_coding	getma.org/?cm=var&var=hg19,9,75406829,A,T&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF18		M/L		T	low	1792/3201		getma.org/?cm=msa&ty=f&p=TMC1_HUMAN&rb=401&re=514&var=M418L	tolerated(0.19)				YES	TMC1,missense_variant,p.Met418Leu,ENST00000297784,NM_138691.2;TMC1,missense_variant,p.Met418Leu,ENST00000340019,;TMC1,missense_variant,p.Met418Leu,ENST00000396237,;TMC1,upstream_gene_variant,,ENST00000486417,;							MODERATE	1252/2283	M418L	TMC1_HUMAN			Transcript		benign(0.002)	.	ENSP00000297784		CCDS6643.1			1	
NIPAL4	0	LGGM	GRCh37	5	156899537	156899537	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	100	13	.	.	ENST00000311946.7:c.970C>T	p.Pro324Ser	p.P324S	ENST00000311946	NM_001099287.1	324	Ccg/Tcg	0	1	1	UPI00001D7EEA	0	NA	ENST00000311946		ENSG00000172548	28018		113	2.91		HGNC	p.P324S		NIPAL4		SNV			1				ENST00000311946	protein_coding	getma.org/?cm=var&var=hg19,5,156899537,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF7,Pfam_domain:PF05653		P/S		T	medium	1086/3274		getma.org/?cm=msa&ty=f&p=NIPA4_HUMAN&rb=114&re=414&var=P324S	deleterious(0.02)				YES	NIPAL4,missense_variant,p.Pro324Ser,ENST00000311946,NM_001099287.1;NIPAL4,missense_variant,p.Pro305Ser,ENST00000435489,NM_001172292.1;ADAM19,intron_variant,,ENST00000430702,;ADAM19,downstream_gene_variant,,ENST00000257527,NM_033274.4;ADAM19,downstream_gene_variant,,ENST00000394020,;ADAM19,downstream_gene_variant,,ENST00000517374,;NIPAL4,downstream_gene_variant,,ENST00000521390,;NIPAL4,downstream_gene_variant,,ENST00000519946,;ADAM19,intron_variant,,ENST00000517951,;NIPAL4,downstream_gene_variant,,ENST00000519150,;							MODERATE	970/1401	P324S	NIPA4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311687		CCDS47328.1			1	
POMZP3	0	LGGM	GRCh37	7	76254942	76254942	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	214	14	.	.	ENST00000310842.4:c.124T>C	p.Cys42Arg	p.C42R	ENST00000310842	NM_012230.3	42	Tgt/Cgt	0	1	1	UPI000059D9C5	0	NA	ENST00000310842		ENSG00000146707	9203		228	2.54		HGNC	p.C42R		POMZP3		SNV							ENST00000310842	protein_coding	getma.org/?cm=var&var=hg19,7,76254942,A,G&fts=all				C/R		G	medium	809/1490		getma.org/?cm=msa&ty=f&p=POZP3_HUMAN&rb=1&re=71&var=C42R	deleterious_low_confidence(0.05)				YES	POMZP3,missense_variant,p.Cys42Arg,ENST00000310842,NM_012230.3;POMZP3,missense_variant,p.Cys42Arg,ENST00000275569,NM_152992.2;POMZP3,missense_variant,p.Cys42Arg,ENST00000454397,;UPK3B,intron_variant,,ENST00000419923,;UPK3B,intron_variant,,ENST00000443097,;AC004980.7,intron_variant,,ENST00000418663,;AC004980.7,intron_variant,,ENST00000450661,;AC004980.7,downstream_gene_variant,,ENST00000423084,;POMZP3,missense_variant,p.Cys42Arg,ENST00000424818,;							MODERATE	124/564	C42R	POZP3_HUMAN			Transcript		unknown(0)	.	ENSP00000309233		CCDS43606.1			1	
PRKD1	0	LGGM	GRCh37	14	30132973	30132973	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	112	14	.	.	ENST00000331968.5:c.628A>G	p.Thr210Ala	p.T210A	ENST00000331968	NM_002742.2	210	Act/Gct	0	1	1	UPI0000456761	0	NA	ENST00000331968		ENSG00000184304	9407		126	1.32		HGNC	p.T210A	rs778708427	PRKD1	6.06E-05	SNV			1				ENST00000415220	protein_coding	getma.org/?cm=var&var=hg19,14,30132973,T,C&fts=all		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968		T/A		C	low	858/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=199&re=270&var=T210A	tolerated(0.73)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Thr210Ala,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Thr210Ala,ENST00000415220,;PRKD1,downstream_gene_variant,,ENST00000549503,;PRKD1,non_coding_transcript_exon_variant,,ENST00000468370,;							MODERATE	628/2739	T210A	KPCD1_HUMAN			Transcript		benign(0.004)	.	ENSP00000333568	8.24E-06	CCDS9637.1			1	
RGS2	0	LGGM	GRCh37	1	192780644	192780644	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	123	14	.	.	ENST00000235382.5:c.554C>G	p.Ser185Cys	p.S185C	ENST00000235382	NM_002923.3	185	tCt/tGt	0	1	1	UPI0000044575	0	getma.org/pdb.php?prot=RGS2_HUMAN&from=83&to=198&var=S185C	ENST00000235382		ENSG00000116741	9998		137	2.36		HGNC	p.S185C		RGS2		SNV							ENST00000235382	protein_coding	getma.org/?cm=var&var=hg19,1,192780644,C,G&fts=all		Gene3D:1.10.196.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF43,SMART_domains:SM00315,Superfamily_domains:SSF48097		S/C		G	medium	585/1344		getma.org/?cm=msa&ty=f&p=RGS2_HUMAN&rb=83&re=198&var=S185C	deleterious(0.03)	Q49A86_HUMAN			YES	RGS2,missense_variant,p.Ser185Cys,ENST00000235382,NM_002923.3;RGS2,downstream_gene_variant,,ENST00000483295,;RGS2,downstream_gene_variant,,ENST00000464302,;RGS2,downstream_gene_variant,,ENST00000487236,;							MODERATE	554/636	S185C	RGS2_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000235382		CCDS1377.1			1	
CCSER1	0	LGGM	GRCh37	4	91229969	91229969	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	141	18	.	.	ENST00000509176.1:c.534G>T	p.Arg178Ser	p.R178S	ENST00000509176	NM_001145065.1	178	agG/agT	0	1	1	UPI00005A6104	0	NA	ENST00000509176		ENSG00000184305	29349		159	0.55		HGNC	p.R178S		CCSER1		SNV							ENST00000432775	protein_coding	getma.org/?cm=var&var=hg19,4,91229969,G,T&fts=all		hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1		R/S		T	neutral	822/5847		getma.org/?cm=msa&ty=f&p=F190A_HUMAN&rb=1&re=729&var=R178S	deleterious(0)				YES	CCSER1,missense_variant,p.Arg178Ser,ENST00000509176,NM_001145065.1;CCSER1,missense_variant,p.Arg178Ser,ENST00000432775,NM_207491.2;CCSER1,missense_variant,p.Arg178Ser,ENST00000333691,;CCSER1,missense_variant,p.Arg178Ser,ENST00000505073,;CCSER1,upstream_gene_variant,,ENST00000508550,;CCSER1,upstream_gene_variant,,ENST00000508086,;CCSER1,upstream_gene_variant,,ENST00000514352,;							MODERATE	534/2703	R178S	CCSE1_HUMAN			Transcript		benign(0.202)	.	ENSP00000425040		CCDS47099.1			1	
ZNF234	0	LGGM	GRCh37	19	44661527	44661527	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093650	H093650N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	154	19	.	.	ENST00000426739.2:c.1358A>C	p.Gln453Pro	p.Q453P	ENST00000426739	NM_006630.2	453	cAg/cCg	0	1	1	UPI0000070C95	0	getma.org/pdb.php?prot=ZN234_HUMAN&from=442&to=467&var=Q453P	ENST00000426739		ENSG00000263002	13027		173	0.53		HGNC	p.Q453P		ZNF234		SNV							ENST00000592437	protein_coding	getma.org/?cm=var&var=hg19,19,44661527,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF195		Q/P		C	neutral	1616/3245		getma.org/?cm=msa&ty=f&p=ZN234_HUMAN&rb=422&re=487&var=Q453P	deleterious(0)	Q86WM3_HUMAN,Q86WM2_HUMAN			YES	ZNF234,missense_variant,p.Gln453Pro,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Gln453Pro,ENST00000592437,NM_001144824.1;							MODERATE	1358/2103	Q453P	ZN234_HUMAN			Transcript		benign(0.334)	.	ENSP00000400878		CCDS46101.1			1	
ZNF234	0	LGGM	GRCh37	19	44661528	44661528	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	153	19	.	.	ENST00000426739.2:c.1359G>T	p.Gln453His	p.Q453H	ENST00000426739	NM_006630.2	453	caG/caT	0	1	1	UPI0000070C95	0	getma.org/pdb.php?prot=ZN234_HUMAN&from=442&to=467&var=Q453H	ENST00000426739		ENSG00000263002	13027		172	0.99		HGNC	p.Q453H		ZNF234		SNV							ENST00000592437	protein_coding	getma.org/?cm=var&var=hg19,19,44661528,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF195		Q/H		T	low	1617/3245		getma.org/?cm=msa&ty=f&p=ZN234_HUMAN&rb=422&re=487&var=Q453H	deleterious(0)	Q86WM3_HUMAN,Q86WM2_HUMAN			YES	ZNF234,missense_variant,p.Gln453His,ENST00000426739,NM_006630.2;ZNF234,missense_variant,p.Gln453His,ENST00000592437,NM_001144824.1;							MODERATE	1359/2103	Q453H	ZN234_HUMAN			Transcript		possibly_damaging(0.637)	.	ENSP00000400878		CCDS46101.1			1	
RIMS2	0	LGGM	GRCh37	8	104778601	104778601	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093650	H093650N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	164	19	.	.	ENST00000406091.3:c.534G>A	p.Glu178=	p.E178=	ENST00000406091	NM_001100117.2	178	gaG/gaA	0	1	1	UPI0001597063	0		ENST00000406091		ENSG00000176406	17283		183			HGNC	p.E178E		RIMS2		SNV							ENST00000504942	protein_coding			hmmpanther:PTHR12157:SF15,hmmpanther:PTHR12157		E		A		534/4050				E9PFB6_HUMAN			YES	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,;							LOW	534/4050		RIMS2_HUMAN			Transcript			.	ENSP00000384892		CCDS55269.1			1	
CTTNBP2NL	0	LGGM	GRCh37	1	112999389	112999389	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093650	H093650N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	194	23	.	.	ENST00000271277.6:c.1275C>G	p.Ser425=	p.S425=	ENST00000271277	NM_018704.2	425	tcC/tcG	0	1	1	UPI000006ED23	0		ENST00000271277		ENSG00000143079	25330		217			HGNC	p.S425S		CTTNBP2NL		SNV							ENST00000271277	protein_coding			hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF9,Low_complexity_(Seg):seg		S		G		1500/5897				B1AMN7_HUMAN			YES	CTTNBP2NL,synonymous_variant,p.=,ENST00000271277,NM_018704.2;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,;CTTNBP2NL,upstream_gene_variant,,ENST00000607039,;							LOW	1275/1920		CT2NL_HUMAN			Transcript			.	ENSP00000271277		CCDS845.1			1	
ESCO2	0	LGGM	GRCh37	8	27660864	27660864	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093650	H093650N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093650N.bam, H093650T.bam	Illumina HiSeq	43	27	.	.	ENST00000305188.8:c.1715T>C	p.Ile572Thr	p.I572T	ENST00000305188	NM_001017420.2	572	aTa/aCa	0	1	1	UPI0000160D17	0	NA	ENST00000305188		ENSG00000171320	27230		70	2.86		HGNC	p.I572T	rs755538272	ESCO2		SNV			1				ENST00000305188	protein_coding	getma.org/?cm=var&var=hg19,8,27660864,T,C&fts=all		Pfam_domain:PF13880,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF28		I/T		C	medium	1953/3922	1.50E-05	getma.org/?cm=msa&ty=f&p=ESCO2_HUMAN&rb=528&re=597&var=I572T	deleterious(0.03)	E5RIE3_HUMAN,E5RFP7_HUMAN			YES	ESCO2,missense_variant,p.Ile572Thr,ENST00000305188,NM_001017420.2;ESCO2,missense_variant,p.Ile220Thr,ENST00000397418,;ESCO2,downstream_gene_variant,,ENST00000518262,;ESCO2,3_prime_UTR_variant,,ENST00000522378,;							MODERATE	1715/1806	I572T	ESCO2_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000306999	8.24E-06	CCDS34872.1			1	
CREBBP	0	LGGM	GRCh37	16	3799673	3799673	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	15	2	.	.	ENST00000262367.5:c.3791A>G	p.Lys1264Arg	p.K1264R	ENST00000262367	NM_004380.2	1264	aAg/aGg	0	1	1	UPI0000000620	0	NA	ENST00000262367		ENSG00000005339	2348		17	2.41		HGNC	p.K32R		CREBBP		SNV			1				ENST00000573517	protein_coding	getma.org/?cm=var&var=hg19,16,3799673,T,C&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		K/R		C	medium	4601/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1233&re=1341&var=K1264R		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			YES	CREBBP,splice_acceptor_variant,,ENST00000570939,;CREBBP,missense_variant,p.Lys1264Arg,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Lys1226Arg,ENST00000382070,NM_001079846.1;CREBBP,missense_variant,p.Lys32Arg,ENST00000573517,;CREBBP,upstream_gene_variant,,ENST00000572569,;CREBBP,upstream_gene_variant,,ENST00000574740,;							MODERATE	3791/7329	K1264R	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
PTPRU	0	LGGM	GRCh37	1	29586062	29586062	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	4	2	.	.	ENST00000345512.3:c.661C>A	p.Arg221Ser	p.R221S	ENST00000345512	NM_005704.4	221	Cgc/Agc	0	1	1	UPI000013C57E	0	getma.org/pdb.php?prot=PTPRU_HUMAN&from=190&to=275&var=R221S	ENST00000345512		ENSG00000060656	9683		6	0.755		HGNC	p.R221S		PTPRU		SNV							ENST00000356870	protein_coding	getma.org/?cm=var&var=hg19,1,29586062,C,A&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF207,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		R/S		A	neutral	790/4470		getma.org/?cm=msa&ty=f&p=PTPRU_HUMAN&rb=190&re=275&var=R221S	tolerated(0.1)	B3KT29_HUMAN			YES	PTPRU,missense_variant,p.Arg221Ser,ENST00000356870,NM_133177.3;PTPRU,missense_variant,p.Arg221Ser,ENST00000323874,;PTPRU,missense_variant,p.Arg221Ser,ENST00000373779,NM_133178.3,NM_001195001.1;PTPRU,missense_variant,p.Arg221Ser,ENST00000428026,;PTPRU,missense_variant,p.Arg221Ser,ENST00000460170,;PTPRU,missense_variant,p.Arg221Ser,ENST00000345512,NM_005704.4;PTPRU,upstream_gene_variant,,ENST00000527027,;							MODERATE	661/4341	R221S	PTPRU_HUMAN			Transcript		benign(0.005)	.	ENSP00000334941		CCDS334.1			1	
FDXR	0	LGGM	GRCh37	17	72860157	72860157	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	38	3	.	.	ENST00000442102.2:c.1164G>T	p.Thr388=	p.T388=	ENST00000442102	NM_001258012.1	388	acG/acT	0	1		UPI0000169E22	0		ENST00000293195		ENSG00000161513	3642		41			HGNC	p.R328L		FDXR		SNV							ENST00000455107	protein_coding			hmmpanther:PTHR11938,Gene3D:3.50.50.60,PIRSF_domain:PIRSF000362,Superfamily_domains:SSF51905,Superfamily_domains:SSF51971		T		A		1114/1875				Q6GSK2_HUMAN				FDXR,missense_variant,p.Arg328Leu,ENST00000455107,;FDXR,synonymous_variant,p.=,ENST00000442102,NM_001258012.1;FDXR,synonymous_variant,p.=,ENST00000293195,NM_001258014.1,NM_024417.2,NM_004110.3;FDXR,synonymous_variant,p.=,ENST00000544854,NM_001258016.1;FDXR,synonymous_variant,p.=,ENST00000581530,;FDXR,synonymous_variant,p.=,ENST00000413947,NM_001258013.1;FDXR,synonymous_variant,p.=,ENST00000582944,;FDXR,synonymous_variant,p.=,ENST00000583917,;FDXR,synonymous_variant,p.=,ENST00000420580,NM_001258015.1;GRIN2C,upstream_gene_variant,,ENST00000293190,NM_000835.4;GRIN2C,upstream_gene_variant,,ENST00000347612,NM_001278553.1;FDXR,downstream_gene_variant,,ENST00000581219,;FDXR,downstream_gene_variant,,ENST00000579893,;GRIN2C,upstream_gene_variant,,ENST00000578159,;FDXR,downstream_gene_variant,,ENST00000581969,;FDXR,3_prime_UTR_variant,,ENST00000579482,;FDXR,3_prime_UTR_variant,,ENST00000577509,;FDXR,non_coding_transcript_exon_variant,,ENST00000578473,;FDXR,intron_variant,,ENST00000583881,;GRIN2C,upstream_gene_variant,,ENST00000584176,;GRIN2C,upstream_gene_variant,,ENST00000584496,;FDXR,downstream_gene_variant,,ENST00000582710,;FDXR,downstream_gene_variant,,ENST00000577932,;FDXR,downstream_gene_variant,,ENST00000579543,;FDXR,downstream_gene_variant,,ENST00000580492,;							LOW	1035/1476		ADRO_HUMAN			Transcript			.	ENSP00000293195		CCDS58593.1			1	
IGF1R	0	LGGM	GRCh37	15	99250870	99250870	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	19	3	.	.	ENST00000268035.6:c.174C>A	p.Tyr58Ter	p.Y58*	ENST00000268035	NM_000875.3	58	taC/taA	0	1	1	UPI000012D3EA	0	NA	ENST00000268035		ENSG00000140443	5465		22	0		HGNC	p.Y58X		IGF1R		SNV			1				ENST00000558762	protein_coding	getma.org/?cm=var&var=hg19,15,99250870,C,A&fts=all		Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Pfam_domain:PF01030,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416		Y/*		A	NA	785/11803		NA		H0YNR0_HUMAN,H0YMJ5_HUMAN			YES	IGF1R,stop_gained,p.Tyr58Ter,ENST00000268035,NM_000875.3;IGF1R,stop_gained,p.Tyr58Ter,ENST00000558762,;IGF1R,upstream_gene_variant,,ENST00000558355,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;							HIGH	174/4104	Y58*	IGF1R_HUMAN			Transcript			.	ENSP00000268035		CCDS10378.1			1	
CEP350	0	LGGM	GRCh37	1	180061939	180061939	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	46	3	.	.	ENST00000367607.3:c.6699A>G	p.Lys2233=	p.K2233=	ENST00000367607	NM_014810.4	2233	aaA/aaG	0	1	1	UPI000013CFC5	0		ENST00000367607		ENSG00000135837	24238		49			HGNC	p.K2233K		CEP350		SNV							ENST00000367607	protein_coding			hmmpanther:PTHR13958		K		G		7117/13491				Q5T2X4_HUMAN			YES	CEP350,synonymous_variant,p.=,ENST00000367607,NM_014810.4;CEP350,synonymous_variant,p.=,ENST00000429851,;CEP350,upstream_gene_variant,,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;							LOW	6699/9354		CE350_HUMAN			Transcript			.	ENSP00000356579		CCDS1336.1			1	
ITGAL	0	LGGM	GRCh37	16	30507812	30507812	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	36	3	.	.	ENST00000356798.6:c.1757A>G	p.His586Arg	p.H586R	ENST00000356798	NM_002209.2	586	cAt/cGt	0	1	1	UPI000013C4FF	0	getma.org/pdb.php?prot=ITAL_HUMAN&from=555&to=611&var=H586R	ENST00000356798		ENSG00000005844	6148		39	0.815		HGNC	p.H586R	rs778076299	ITGAL		SNV				9.61E-05			ENST00000356798	protein_coding	getma.org/?cm=var&var=hg19,16,30507812,A,G&fts=all		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF70,SMART_domains:SM00191,Superfamily_domains:SSF69318		H/R		G	low	1937/5213		getma.org/?cm=msa&ty=f&p=ITAL_HUMAN&rb=555&re=611&var=H586R	deleterious(0.02)	I3L468_HUMAN,H3BNL5_HUMAN			YES	ITGAL,missense_variant,p.His586Arg,ENST00000356798,NM_002209.2;ITGAL,missense_variant,p.His503Arg,ENST00000358164,NM_001114380.1;ITGAL,intron_variant,,ENST00000433423,;RP11-297C4.1,downstream_gene_variant,,ENST00000563751,;ITGAL,downstream_gene_variant,,ENST00000568012,;ITGAL,non_coding_transcript_exon_variant,,ENST00000568987,;ITGAL,intron_variant,,ENST00000568926,;ITGAL,downstream_gene_variant,,ENST00000564935,;ITGAL,upstream_gene_variant,,ENST00000563615,;							MODERATE	1757/3513	H586R	ITAL_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000349252	8.24E-06	CCDS32433.1			1	
ZNF445	0	LGGM	GRCh37	3	44496938	44496938	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	22	3	.	.	ENST00000425708.2:c.104A>G	p.Tyr35Cys	p.Y35C	ENST00000425708		35	tAt/tGt	0	1		UPI000019AD12	0	NA	ENST00000396077		ENSG00000185219	21018		25	0.695		HGNC	p.Y35C	rs769475422,COSM583801	ZNF445	6.06E-05	SNV						0,1	ENST00000396077	protein_coding	getma.org/?cm=var&var=hg19,3,44496938,T,C&fts=all		hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF48		Y/C		C	neutral	452/9105		getma.org/?cm=msa&ty=f&p=ZN445_HUMAN&rb=1&re=48&var=Y35C	tolerated_low_confidence(0.08)	B7ZKX2_HUMAN				ZNF445,missense_variant,p.Tyr35Cys,ENST00000425708,;ZNF445,missense_variant,p.Tyr35Cys,ENST00000396077,NM_181489.5;ZNF445,non_coding_transcript_exon_variant,,ENST00000460529,;ZNF445,non_coding_transcript_exon_variant,,ENST00000474600,;	0.000462				0,1		MODERATE	104/3096	Y35C	ZN445_HUMAN			Transcript		possibly_damaging(0.759)	common_variant	ENSP00000379387	4.12E-05	CCDS2713.1			1	
NDUFS1	0	LGGM	GRCh37	2	207007534	207007534	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	31	3	.	.	ENST00000455934.2:c.1051G>T	p.Asp351Tyr	p.D351Y	ENST00000455934	NM_001199984.1	351	Gat/Tat	0	1		UPI00000702AF	0	getma.org/pdb.php?prot=NDUS1_HUMAN&from=301&to=629&var=D337Y	ENST00000233190		ENSG00000023228	7707		34	1.15		HGNC	p.D221Y		NDUFS1		SNV			1				ENST00000457011	protein_coding	getma.org/?cm=var&var=hg19,2,207007534,C,A&fts=all		hmmpanther:PTHR11615,hmmpanther:PTHR11615:SF115,Gene3D:3.40.50.740,Pfam_domain:PF00384,TIGRFAM_domain:TIGR01973,Superfamily_domains:SSF53706		D/Y		A	low	1276/11819		getma.org/?cm=msa&ty=f&p=NDUS1_HUMAN&rb=301&re=629&var=D337Y	deleterious(0)	E5KRK5_HUMAN,Q9P1A0_HUMAN,C9JPQ5_HUMAN,B4DJ81_HUMAN				NDUFS1,missense_variant,p.Asp337Tyr,ENST00000233190,NM_005006.6;NDUFS1,missense_variant,p.Asp280Tyr,ENST00000423725,NM_001199983.1;NDUFS1,missense_variant,p.Asp301Tyr,ENST00000440274,NM_001199981.1;NDUFS1,missense_variant,p.Asp351Tyr,ENST00000455934,NM_001199984.1;NDUFS1,missense_variant,p.Asp337Tyr,ENST00000449699,;NDUFS1,missense_variant,p.Asp221Tyr,ENST00000457011,;NDUFS1,missense_variant,p.Asp226Tyr,ENST00000432169,NM_001199982.1;NDUFS1,downstream_gene_variant,,ENST00000454195,;NDUFS1,downstream_gene_variant,,ENST00000456284,;							MODERATE	1009/2184	D337Y	NDUS1_HUMAN			Transcript		benign(0.148)	.	ENSP00000233190		CCDS2366.1			1	
PROZ	0	LGGM	GRCh37	13	113818886	113818886	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	16	3	.	.	ENST00000342783.4:c.499C>T	p.Gln167Ter	p.Q167*	ENST00000342783	NM_001256134.1	167	Cag/Tag	0	1		UPI00001323F3	0	NA	ENST00000375547		ENSG00000126231	9460		19	0		HGNC	p.Q145X		PROZ		SNV			1				ENST00000375547	protein_coding	getma.org/?cm=var&var=hg19,13,113818886,C,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF14670,PIRSF_domain:PIRSF001143,hmmpanther:PTHR24278,hmmpanther:PTHR24278:SF20,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF50494		Q/*		T	NA	440/1485		NA						PROZ,stop_gained,p.Gln167Ter,ENST00000342783,NM_001256134.1;PROZ,stop_gained,p.Gln145Ter,ENST00000375547,NM_003891.2;RP11-98F14.11,downstream_gene_variant,,ENST00000600642,;PROZ,non_coding_transcript_exon_variant,,ENST00000493630,;							HIGH	433/1203	Q145*	PROZ_HUMAN			Transcript			.	ENSP00000364697		CCDS9531.1			1	
TMED8	0	LGGM	GRCh37	14	77808150	77808150	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	13	3	.	.	ENST00000216468.7:c.942C>G	p.Asn314Lys	p.N314K	ENST00000216468	NM_213601.1	314	aaC/aaG	0	1	1	UPI0000161A22	0	getma.org/pdb.php?prot=TMED8_HUMAN&from=185&to=324&var=N314K	ENST00000216468		ENSG00000100580	18633		16	1.665		HGNC	p.N314K		TMED8		SNV							ENST00000216468	protein_coding	getma.org/?cm=var&var=hg19,14,77808150,G,C&fts=all		Superfamily_domains:0041713,Pfam_domain:PF13897,hmmpanther:PTHR22973:SF3,hmmpanther:PTHR22973,PROSITE_profiles:PS50866		N/K		C	low	998/7784		getma.org/?cm=msa&ty=f&p=TMED8_HUMAN&rb=185&re=324&var=N314K	deleterious(0.04)	Q86T10_HUMAN			YES	TMED8,missense_variant,p.Asn314Lys,ENST00000216468,NM_213601.1;							MODERATE	942/978	N314K	TMED8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216468		CCDS32125.1			1	
SYK	0	LGGM	GRCh37	9	93607761	93607761	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	23	3	.	.	ENST00000375746.1:c.463G>T	p.Glu155Ter	p.E155*	ENST00000375746	NM_001174167.1	155	Gag/Tag	0	1		UPI000012E0DD	0	NA	ENST00000375746		ENSG00000165025	11491		26	0		HGNC	p.E155X		SYK		SNV							ENST00000375747	protein_coding	getma.org/?cm=var&var=hg19,9,93607761,G,T&fts=all		Superfamily_domains:SSF55550,PIRSF_domain:PIRSF000604,Gene3D:2oq1A02,hmmpanther:PTHR24418:SF79,hmmpanther:PTHR24418		E/*		T	NA	596/4990		NA						SYK,stop_gained,p.Glu155Ter,ENST00000375754,NM_003177.5;SYK,stop_gained,p.Glu155Ter,ENST00000375746,NM_001174167.1;SYK,stop_gained,p.Glu155Ter,ENST00000375751,NM_001135052.2;SYK,stop_gained,p.Glu155Ter,ENST00000375747,NM_001174168.1;SYK,downstream_gene_variant,,ENST00000476708,;							HIGH	463/1908	E155*	KSYK_HUMAN			Transcript			.	ENSP00000364898		CCDS6688.1			1	
SYNE2	0	LGGM	GRCh37	14	64519142	64519142	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	45	3	.	.	ENST00000358025.3:c.8511C>T	p.Ser2837=	p.S2837=	ENST00000358025	NM_182914.2	2837	agC/agT	0	1		UPI00001B0452	0		ENST00000344113		ENSG00000054654	17084		48			HGNC	p.S2870S		SYNE2		SNV			1				ENST00000554584	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		S		T		8723/21777				Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				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,,ENST00000557005,;							LOW	8511/20658		SYNE2_HUMAN			Transcript			.	ENSP00000341781		CCDS41963.1			1	
MKL2	0	LGGM	GRCh37	16	14340710	14340710	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	41	3	.	.	ENST00000318282.5:c.1593C>A	p.Thr531=	p.T531=	ENST00000318282		531	acC/acA	0	1	1	UPI0000225CCB	0		ENST00000318282		ENSG00000186260	29819		44			HGNC	p.T531T		MKL2		SNV							ENST00000318282	protein_coding			hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF5		T		A		1723/8608				I3L0U1_HUMAN			YES	MKL2,synonymous_variant,p.=,ENST00000571589,NM_014048.3;MKL2,synonymous_variant,p.=,ENST00000318282,;MKL2,synonymous_variant,p.=,ENST00000341243,;MKL2,synonymous_variant,p.=,ENST00000574045,;MKL2,upstream_gene_variant,,ENST00000572588,;							LOW	1593/3150		MKL2_HUMAN			Transcript			.	ENSP00000339086		CCDS32391.1			1	
EPHB6	0	LGGM	GRCh37	7	142568118	142568118	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	48	4	.	.	ENST00000392957.2:c.2759G>A	p.Arg920His	p.R920H	ENST00000392957	NM_004445.4	920	cGc/cAc	0	1	1	UPI00006635A8	0	getma.org/pdb.php?prot=EPHB6_HUMAN&from=916&to=944&var=R920H	ENST00000392957		ENSG00000106123	3396	8.65E-05	52	1.92		HGNC	p.R920H	rs758096886,COSM599477	EPHB6		SNV						0,1	ENST00000392957	protein_coding	getma.org/?cm=var&var=hg19,7,142568118,G,A&fts=all		PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF300,Superfamily_domains:SSF56112		R/H		A	medium	3546/4043		getma.org/?cm=msa&ty=f&p=EPHB6_HUMAN&rb=886&re=974&var=R920H	deleterious(0.01)				YES	EPHB6,missense_variant,p.Arg920His,ENST00000392957,NM_004445.4,NM_001280794.1;EPHB6,missense_variant,p.Arg920His,ENST00000442129,;EPHB6,missense_variant,p.Arg643His,ENST00000411471,NM_001280795.1;TRPV6,downstream_gene_variant,,ENST00000359396,NM_018646.4;TRPV6,downstream_gene_variant,,ENST00000436401,;EPHB6,non_coding_transcript_exon_variant,,ENST00000476059,;EPHB6,3_prime_UTR_variant,,ENST00000425995,;EPHB6,3_prime_UTR_variant,,ENST00000422643,;EPHB6,non_coding_transcript_exon_variant,,ENST00000466783,;EPHB6,non_coding_transcript_exon_variant,,ENST00000486511,;EPHB6,non_coding_transcript_exon_variant,,ENST00000471581,;TRPV6,downstream_gene_variant,,ENST00000487077,;TRPV6,downstream_gene_variant,,ENST00000485138,;TRPV6,downstream_gene_variant,,ENST00000463646,;					0,1		MODERATE	2759/3066	R920H	EPHB6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000376684	8.24E-06	CCDS5873.2			1	
ST6GALNAC3	0	LGGM	GRCh37	1	76877899	76877899	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	64	4	.	.	ENST00000328299.3:c.420T>A	p.Pro140=	p.P140=	ENST00000328299	NM_152996.2	140	ccT/ccA	0	1	1	UPI000006F75A	0		ENST00000328299		ENSG00000184005	19343		68			HGNC	p.P140P		ST6GALNAC3		SNV							ENST00000328299	protein_coding			hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF49,Pfam_domain:PF00777		P		A		568/6861							YES	ST6GALNAC3,synonymous_variant,p.=,ENST00000328299,NM_152996.2;ST6GALNAC3,non_coding_transcript_exon_variant,,ENST00000464140,;							LOW	420/918		SIA7C_HUMAN			Transcript			.	ENSP00000329214		CCDS672.1			1	
DHX29	0	LGGM	GRCh37	5	54585195	54585195	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	36	4	.	.	ENST00000251636.5:c.969A>C	p.Gln323His	p.Q323H	ENST00000251636	NM_019030.2	323	caA/caC	0	1	1	UPI00001AE72C	0	NA	ENST00000251636		ENSG00000067248	15815		40	1.39		HGNC	p.Q323H		DHX29		SNV							ENST00000251636	protein_coding	getma.org/?cm=var&var=hg19,5,54585195,T,G&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF82		Q/H		G	low	1118/4502		getma.org/?cm=msa&ty=f&p=DHX29_HUMAN&rb=1&re=368&var=Q323H	tolerated(0.13)				YES	DHX29,missense_variant,p.Gln323His,ENST00000251636,NM_019030.2;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;							MODERATE	969/4110	Q323H	DHX29_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000251636		CCDS34158.1			1	
GRIA2	0	LGGM	GRCh37	4	158142852	158142852	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	26	4	.	.	ENST00000296526.7:c.122A>G	p.Tyr41Cys	p.Y41C	ENST00000296526	NM_000826.3	41	tAc/tGc	0	1		UPI000012B7C2	0	getma.org/pdb.php?prot=GRIA2_HUMAN&from=1&to=47&var=Y41C	ENST00000264426		ENSG00000120251	4572		30	1.895		HGNC	p.Y41C		GRIA2		SNV							ENST00000264426	protein_coding	getma.org/?cm=var&var=hg19,4,158142852,A,G&fts=all		Gene3D:3.40.50.2300,Superfamily_domains:SSF53822		Y/C		G	low	401/3445		getma.org/?cm=msa&ty=f&p=GRIA2_HUMAN&rb=1&re=47&var=Y41C	tolerated(0.05)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				GRIA2,missense_variant,p.Tyr41Cys,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Tyr41Cys,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Tyr41Cys,ENST00000509417,;GRIA2,missense_variant,p.Tyr41Cys,ENST00000512774,;GRIA2,5_prime_UTR_variant,,ENST00000393815,NM_001083620.1;GRIA2,5_prime_UTR_variant,,ENST00000449365,;GRIA2,5_prime_UTR_variant,,ENST00000507898,;GRIA2,5_prime_UTR_variant,,ENST00000505888,;GRIA2,5_prime_UTR_variant,,ENST00000506284,;GRIA2,intron_variant,,ENST00000504801,;GRIA2,5_prime_UTR_variant,,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;							MODERATE	122/2652	Y41C	GRIA2_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000264426		CCDS43274.1			1	
CECR1	0	LGGM	GRCh37	22	17688100	17688100	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	48	4	.	.	ENST00000399839.1:c.403C>T	p.His135Tyr	p.H135Y	ENST00000399839	NM_001282228.1	135	Cac/Tac	0	1		UPI000013D2E8	0	getma.org/pdb.php?prot=CECR1_HUMAN&from=103&to=162&var=H135Y	ENST00000262607		ENSG00000093072	1839		52	-0.585		HGNC	p.H135Y		CECR1		SNV			1				ENST00000543038	protein_coding	getma.org/?cm=var&var=hg19,22,17688100,G,A&fts=all		Superfamily_domains:SSF51556,Gene3D:3.20.20.140,TIGRFAM_domain:TIGR01431,Pfam_domain:PF00962,hmmpanther:PTHR11409:SF39,hmmpanther:PTHR11409		H/Y		A	neutral	615/3925		getma.org/?cm=msa&ty=f&p=CECR1_HUMAN&rb=103&re=162&var=H135Y	tolerated(1)	F5H7J3_HUMAN,C9IZA8_HUMAN,B4E3Q4_HUMAN,B4DHM2_HUMAN				CECR1,missense_variant,p.His135Tyr,ENST00000399839,NM_001282228.1;CECR1,missense_variant,p.His135Tyr,ENST00000262607,NM_017424.2,NM_001282226.1,NM_001282225.1;CECR1,missense_variant,p.His93Tyr,ENST00000449907,NM_001282227.1;CECR1,missense_variant,p.His135Tyr,ENST00000399837,;CECR1,missense_variant,p.His135Tyr,ENST00000441548,;CECR1,missense_variant,p.His135Tyr,ENST00000543038,;AC005399.1,upstream_gene_variant,,ENST00000600045,;							MODERATE	403/1536	H135Y	CECR1_HUMAN			Transcript		benign(0.001)	.	ENSP00000262607		CCDS13742.1			1	
NOP58	0	LGGM	GRCh37	2	203160415	203160415	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	91	4	.	.	ENST00000264279.5:c.926C>T	p.Ala309Val	p.A309V	ENST00000264279	NM_015934.3	309	gCc/gTc	0	1	1	UPI0000130366	0	getma.org/pdb.php?prot=NOP58_HUMAN&from=253&to=401&var=A309V	ENST00000264279		ENSG00000055044	29926		95	4.355		HGNC	p.A309V		NOP58		SNV							ENST00000264279	protein_coding	getma.org/?cm=var&var=hg19,2,203160415,C,T&fts=all		Pfam_domain:PF01798,PROSITE_profiles:PS51358,hmmpanther:PTHR10894,Superfamily_domains:SSF89124		A/V		T	high	1152/2046		getma.org/?cm=msa&ty=f&p=NOP58_HUMAN&rb=253&re=401&var=A309V	deleterious(0)				YES	NOP58,missense_variant,p.Ala309Val,ENST00000264279,NM_015934.3;SNORD11B,downstream_gene_variant,,ENST00000607707,NR_003694.1;SNORD11,downstream_gene_variant,,ENST00000459124,NR_003031.1;NOP58,upstream_gene_variant,,ENST00000478508,;NOP58,downstream_gene_variant,,ENST00000492688,;NOP58,intron_variant,,ENST00000433543,;							MODERATE	926/1590	A309V	NOP58_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264279		CCDS2353.1			1	
DCAF5	0	LGGM	GRCh37	14	69521402	69521402	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	44	4	.	.	ENST00000341516.5:c.2001C>T	p.Leu667=	p.L667=	ENST00000341516	NM_003861.2	667	ctC/ctT	0	1	1	UPI00001C1F66	0		ENST00000341516		ENSG00000139990	20224		48			HGNC	p.L667L		DCAF5		SNV							ENST00000341516	protein_coding					L		A		2149/5953				Q8NCX5_HUMAN			YES	DCAF5,synonymous_variant,p.=,ENST00000341516,NM_003861.2,NM_001284207.1;DCAF5,synonymous_variant,p.=,ENST00000554215,;DCAF5,synonymous_variant,p.=,ENST00000557386,NM_001284206.1;DCAF5,synonymous_variant,p.=,ENST00000556847,;DCAF5,downstream_gene_variant,,ENST00000553293,;							LOW	2001/2829		DCAF5_HUMAN			Transcript			.	ENSP00000341351		CCDS32106.1			1	
DNAH5	0	LGGM	GRCh37	5	13864572	13864572	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	32	4	.	.	ENST00000265104.4:c.4530G>A	p.Gly1510=	p.G1510=	ENST00000265104	NM_001369.2	1510	ggG/ggA	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		36			HGNC	p.G1510G		DNAH5		SNV			1				ENST00000265104	protein_coding			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		G		T		4635/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							LOW	4530/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
ANKRD37	0	LGGM	GRCh37	4	186320761	186320761	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	43	4	.	.	ENST00000335174.4:c.310G>A	p.Ala104Thr	p.A104T	ENST00000335174	NM_181726.2	104	Gct/Act	0	1	1	UPI00000473DA	0	getma.org/pdb.php?prot=ANR37_HUMAN&from=43&to=127&var=A104T	ENST00000335174		ENSG00000186352	29593		47	2.525		HGNC	p.A104T	rs375912914	ANKRD37	6.06E-05	SNV	A:0.0002			0.000193			ENST00000335174	protein_coding	getma.org/?cm=var&var=hg19,4,186320761,G,A&fts=all	A:0.0008	Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,hmmpanther:PTHR24201,PROSITE_profiles:PS50297		A/T	A:0	A	medium	750/1141	1.50E-05	getma.org/?cm=msa&ty=f&p=ANR37_HUMAN&rb=43&re=127&var=A104T	deleterious(0)	D6RFF5_HUMAN,B4E066_HUMAN	A:0	A:0.001	YES	ANKRD37,missense_variant,p.Ala104Thr,ENST00000335174,NM_181726.2;LRP2BP,upstream_gene_variant,,ENST00000505916,;UFSP2,downstream_gene_variant,,ENST00000264689,NM_018359.3;UFSP2,downstream_gene_variant,,ENST00000511485,;ANKRD37,downstream_gene_variant,,ENST00000507753,;UFSP2,downstream_gene_variant,,ENST00000509180,;ANKRD37,downstream_gene_variant,,ENST00000507479,;UFSP2,3_prime_UTR_variant,,ENST00000514247,;ANKRD37,3_prime_UTR_variant,,ENST00000506424,;ANKRD37,non_coding_transcript_exon_variant,,ENST00000511393,;UFSP2,downstream_gene_variant,,ENST00000510755,;UFSP2,downstream_gene_variant,,ENST00000510206,;ANKRD37,downstream_gene_variant,,ENST00000511311,;	0.000809	A:0.0004					MODERATE	310/477	A104T	ANR37_HUMAN		A:0	Transcript		probably_damaging(0.999)	common_variant	ENSP00000335147	9.06E-05	CCDS3841.1		A:0	1	
NME4	0	LGGM	GRCh37	16	450232	450232	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	30	4	.	.	ENST00000219479.2:c.454G>A	p.Ala152Thr	p.A152T	ENST00000219479	NM_005009.2	152	Gcc/Acc	0	1	1	UPI000012FE96	0	getma.org/pdb.php?prot=NDKM_HUMAN&from=38&to=172&var=A152T	ENST00000219479		ENSG00000103202	7852	0.000174	34	2.25		HGNC	p.A82T	rs571220712	NME4		SNV							ENST00000450036	protein_coding	getma.org/?cm=var&var=hg19,16,450232,G,A&fts=all	A:0	HAMAP:MF_00451,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF49,PROSITE_patterns:PS00469,Pfam_domain:PF00334,Gene3D:3.30.70.141,SMART_domains:SM00562,Superfamily_domains:SSF54919,Prints_domain:PR01243		A/T		A	medium	468/995		getma.org/?cm=msa&ty=f&p=NDKM_HUMAN&rb=38&re=172&var=A152T	deleterious(0.02)	A2IDD0_HUMAN,A2IDC9_HUMAN	A:0.0014	A:0	YES	NME4,missense_variant,p.Ala82Thr,ENST00000397722,NM_001286436.1;NME4,missense_variant,p.Ala152Thr,ENST00000219479,NM_005009.2;NME4,missense_variant,p.Ala82Thr,ENST00000450036,NM_001286440.1;NME4,missense_variant,p.Ala160Thr,ENST00000382940,;NME4,3_prime_UTR_variant,,ENST00000433358,NM_001286435.1;DECR2,upstream_gene_variant,,ENST00000219481,NM_020664.3;DECR2,upstream_gene_variant,,ENST00000424398,;DECR2,upstream_gene_variant,,ENST00000397710,;NME4,downstream_gene_variant,,ENST00000454619,;DECR2,upstream_gene_variant,,ENST00000461802,;NME4,missense_variant,p.Ala152Thr,ENST00000444498,;NME4,3_prime_UTR_variant,,ENST00000448828,NM_001286438.1,NM_001286439.1;NME4,non_coding_transcript_exon_variant,,ENST00000468031,;NME4,non_coding_transcript_exon_variant,,ENST00000460297,;DECR2,upstream_gene_variant,,ENST00000437024,;DECR2,upstream_gene_variant,,ENST00000439661,;DECR2,upstream_gene_variant,,ENST00000445291,;		A:0.0002					MODERATE	454/564	A152T	NDKM_HUMAN		A:0	Transcript		possibly_damaging(0.614)	.	ENSP00000219479	2.47E-05	CCDS10408.1	0.00114	A:0	1	
RBM39	0	LGGM	GRCh37	20	34292498	34292498	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	85	4	.	.	ENST00000253363.6:c.1498A>G	p.Met500Val	p.M500V	ENST00000253363		500	Atg/Gtg	0	1	1	UPI0000134418	0	getma.org/pdb.php?prot=RBM39_HUMAN&from=450&to=505&var=M500V	ENST00000253363		ENSG00000131051	15923		89	-0.22		HGNC	p.M478V		RBM39		SNV							ENST00000528062	protein_coding	getma.org/?cm=var&var=hg19,20,34292498,T,C&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF13893,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF301,SMART_domains:SM00360,SMART_domains:SM00361,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01622		M/V		C	neutral	1522/2488		getma.org/?cm=msa&ty=f&p=RBM39_HUMAN&rb=450&re=505&var=M500V	tolerated(1)	Q68DD9_HUMAN,Q5QP22_HUMAN,E1P5S2_HUMAN,B7Z4L7_HUMAN,B4E1M7_HUMAN			YES	RBM39,missense_variant,p.Met494Val,ENST00000361162,NM_184234.2,NM_004902.3;RBM39,missense_variant,p.Met500Val,ENST00000253363,;RBM39,missense_variant,p.Met478Val,ENST00000528062,NM_001242599.1,NM_001242600.1;RBM39,missense_variant,p.Met343Val,ENST00000407261,;RBM39,downstream_gene_variant,,ENST00000448303,;ROMO1,downstream_gene_variant,,ENST00000374078,NM_080748.2;ROMO1,downstream_gene_variant,,ENST00000336695,;ROMO1,downstream_gene_variant,,ENST00000374077,;ROMO1,downstream_gene_variant,,ENST00000374072,;ROMO1,downstream_gene_variant,,ENST00000397416,;RBM39,non_coding_transcript_exon_variant,,ENST00000495293,;RBM39,non_coding_transcript_exon_variant,,ENST00000476806,;RBM39,non_coding_transcript_exon_variant,,ENST00000496183,;RBM39,non_coding_transcript_exon_variant,,ENST00000490354,;RBM39,downstream_gene_variant,,ENST00000475651,;RBM39,downstream_gene_variant,,ENST00000470563,;RBM39,3_prime_UTR_variant,,ENST00000403542,;RBM39,3_prime_UTR_variant,,ENST00000338163,;RBM39,3_prime_UTR_variant,,ENST00000429968,;RBM39,3_prime_UTR_variant,,ENST00000444878,;RBM39,non_coding_transcript_exon_variant,,ENST00000463004,;RBM39,non_coding_transcript_exon_variant,,ENST00000461283,;RBM39,non_coding_transcript_exon_variant,,ENST00000492779,;RBM39,non_coding_transcript_exon_variant,,ENST00000482563,;RBM39,non_coding_transcript_exon_variant,,ENST00000465158,;RBM39,downstream_gene_variant,,ENST00000471635,;RBM39,downstream_gene_variant,,ENST00000468086,;							MODERATE	1498/1593	M500V	RBM39_HUMAN			Transcript		benign(0.008)	.	ENSP00000253363		CCDS13266.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266098	41266098	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	32	4	.	.	ENST00000349496.5:c.95A>G	p.Asp32Gly	p.D32G	ENST00000349496	NM_001904.3	32	gAc/gGc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32G	ENST00000349496	likely_pathogenic,pathogenic	ENSG00000168036	2514		36	2.46		HGNC	p.D32G	rs121913396,COSM5681	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266098,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/G		G	medium	375/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32G	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Gly,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Gly,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Gly,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Gly,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Gly,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	95/2346	D32G	CTNB1_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000344456		CCDS2694.1			1	
PCDHB8	0	LGGM	GRCh37	5	140558560	140558560	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	100	5	.	.	ENST00000239444.2:c.945C>A	p.Ser315=	p.S315=	ENST00000239444	NM_019120.3	315	tcC/tcA	0	1	1	UPI000013CA80	0		ENST00000239444		ENSG00000120322	8693		105			HGNC	p.S315S		PCDHB8		SNV							ENST00000239444	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313		S		A		1190/2711							YES	PCDHB8,synonymous_variant,p.=,ENST00000239444,NM_019120.3;PCDHB16,upstream_gene_variant,,ENST00000361016,NM_020957.1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.2;							LOW	945/2406		PCDB8_HUMAN			Transcript			.	ENSP00000239444		CCDS4250.1			1	
JMJD1C	0	LGGM	GRCh37	10	64974770	64974770	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	39	5	.	.	ENST00000399262.2:c.1157A>G	p.Lys386Arg	p.K386R	ENST00000399262	NM_032776.1	386	aAg/aGg	0	1	1	UPI0000198BEF	0	NA	ENST00000399262		ENSG00000171988	12313		44	1.87		HGNC	p.K167R		JMJD1C		SNV			1				ENST00000402544	protein_coding	getma.org/?cm=var&var=hg19,10,64974770,T,C&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF6		K/R		C	low	1376/8666		getma.org/?cm=msa&ty=f&p=JHD2C_HUMAN&rb=251&re=1699&var=K386R	deleterious(0.02)				YES	JMJD1C,missense_variant,p.Lys386Arg,ENST00000399262,NM_032776.1;JMJD1C,missense_variant,p.Lys167Arg,ENST00000399251,;JMJD1C,missense_variant,p.Lys167Arg,ENST00000402544,NM_004241.2;JMJD1C,missense_variant,p.Lys204Arg,ENST00000542921,NM_001282948.1;JMJD1C,downstream_gene_variant,,ENST00000489372,;JMJD1C,downstream_gene_variant,,ENST00000469152,;							MODERATE	1157/7623	K386R	JHD2C_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000382204		CCDS41532.1			1	
UNC80	0	LGGM	GRCh37	2	210787024	210787024	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	110	5	.	.	ENST00000439458.1:c.5381C>T	p.Ser1794Phe	p.S1794F	ENST00000439458	NM_032504.1	1794	tCc/tTc	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		115	0		HGNC	p.S1789F		UNC80		SNV							ENST00000272845	protein_coding	getma.org/?cm=var&var=hg19,2,210787024,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		S/F		T	neutral	5461/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=1171&re=2869&var=S1794F					YES	UNC80,missense_variant,p.Ser1794Phe,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Ser1789Phe,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;							MODERATE	5381/9777	S1794F	UNC80_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000391088		CCDS46504.1			1	
DIS3L	0	LGGM	GRCh37	15	66587351	66587351	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	75	5	.	.	ENST00000319212.4:c.165G>T	p.Val55=	p.V55=	ENST00000319212	NM_001143688.1	55	gtG/gtT	0	1	1	UPI000162779D	0		ENST00000319212		ENSG00000166938	28698		80			HGNC	p.V55V		DIS3L		SNV							ENST00000319212	protein_coding			hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF30		V		T		215/3647				E9PS35_HUMAN,E9PIL0_HUMAN,E9PI27_HUMAN,E9PI20_HUMAN			YES	DIS3L,synonymous_variant,p.=,ENST00000319212,NM_001143688.1;DIS3L,5_prime_UTR_variant,,ENST00000319194,NM_133375.3;DIS3L,5_prime_UTR_variant,,ENST00000441424,;DIS3L,5_prime_UTR_variant,,ENST00000525109,;DIS3L,5_prime_UTR_variant,,ENST00000530615,;DIS3L,5_prime_UTR_variant,,ENST00000532580,;DIS3L,5_prime_UTR_variant,,ENST00000525134,;RP11-653J6.1,upstream_gene_variant,,ENST00000564269,;DIS3L,non_coding_transcript_exon_variant,,ENST00000532293,;DIS3L,5_prime_UTR_variant,,ENST00000524795,;DIS3L,non_coding_transcript_exon_variant,,ENST00000564909,;DIS3L,non_coding_transcript_exon_variant,,ENST00000565281,;DIS3L,upstream_gene_variant,,ENST00000530537,;							LOW	165/3165		DI3L1_HUMAN			Transcript			.	ENSP00000321711		CCDS45286.1			1	
KCNK2	0	LGGM	GRCh37	1	215408221	215408221	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	68	5	.	.	ENST00000444842.2:c.1014C>T	p.Ala338=	p.A338=	ENST00000444842	NM_014217.3	338	gcC/gcT	0	1	1	UPI000013D4B8	0		ENST00000444842		ENSG00000082482	6277		73			HGNC	p.A323A	rs751828549	KCNK2	0.000425	SNV							ENST00000391894	protein_coding			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21,Superfamily_domains:SSF81324		A		T		1164/3379	6.01E-05			C9JXY2_HUMAN,C9JDK1_HUMAN			YES	KCNK2,synonymous_variant,p.=,ENST00000444842,NM_014217.3,NM_001017425.2;KCNK2,synonymous_variant,p.=,ENST00000391894,;KCNK2,synonymous_variant,p.=,ENST00000391895,NM_001017424.2;KCNK2,3_prime_UTR_variant,,ENST00000486921,;KCNK2,3_prime_UTR_variant,,ENST00000467031,;KCNK2,3_prime_UTR_variant,,ENST00000474771,;							LOW	1014/1281		KCNK2_HUMAN			Transcript			common_variant	ENSP00000394033	9.06E-05	CCDS41467.1			1	
EXOC1	0	LGGM	GRCh37	4	56765908	56765908	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	116	5	.	.	ENST00000381295.2:c.2195A>C	p.Asn732Thr	p.N732T	ENST00000381295	NM_001024924.1	732	aAc/aCc	0	1		UPI000013574F	0	NA	ENST00000346134		ENSG00000090989	30380		121	2.485		HGNC	p.N732T		EXOC1		SNV							ENST00000381295	protein_coding	getma.org/?cm=var&var=hg19,4,56765908,A,C&fts=all		Pfam_domain:PF09763,hmmpanther:PTHR16092,hmmpanther:PTHR16092:SF19		N/T		C	medium	2328/3357		getma.org/?cm=msa&ty=f&p=EXOC1_HUMAN&rb=170&re=871&var=N732T	deleterious(0)					EXOC1,missense_variant,p.Asn732Thr,ENST00000381295,NM_001024924.1;EXOC1,missense_variant,p.Asn732Thr,ENST00000346134,NM_018261.3;EXOC1,missense_variant,p.Asn717Thr,ENST00000349598,NM_178237.2;EXOC1,non_coding_transcript_exon_variant,,ENST00000511971,;EXOC1,upstream_gene_variant,,ENST00000506936,;							MODERATE	2195/2685	N732T	EXOC1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000326514		CCDS3502.1			1	
ZMYM4	0	LGGM	GRCh37	1	35873731	35873731	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	42	5	.	.	ENST00000314607.6:c.3919A>G	p.Ile1307Val	p.I1307V	ENST00000314607	NM_005095.2	1307	Atc/Gtc	0	1	1	UPI0000203EE6	0	NA	ENST00000314607		ENSG00000146463	13055		47	1.87		HGNC	p.I1218V		ZMYM4		SNV							ENST00000373297	protein_coding	getma.org/?cm=var&var=hg19,1,35873731,A,G&fts=all		hmmpanther:PTHR11697:SF87,hmmpanther:PTHR11697		I/V		G	low	3999/6994		getma.org/?cm=msa&ty=f&p=ZMYM4_HUMAN&rb=1161&re=1353&var=I1307V	deleterious(0.01)				YES	ZMYM4,missense_variant,p.Ile1307Val,ENST00000314607,NM_005095.2;ZMYM4,missense_variant,p.Ile1218Val,ENST00000373297,;ZMYM4,missense_variant,p.Ile966Val,ENST00000457946,;ZMYM4,downstream_gene_variant,,ENST00000492456,;							MODERATE	3919/4647	I1307V	ZMYM4_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000322915		CCDS389.1			1	
CACYBP	0	LGGM	GRCh37	1	174973947	174973947	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	55	5	.	.	ENST00000367679.2:c.213T>C	p.Tyr71=	p.Y71=	ENST00000367679	NM_014412.2	71	taT/taC	0	1	1	UPI0000032D9C	0		ENST00000367679		ENSG00000116161	30423		60			HGNC	p.Y28Y		CACYBP		SNV							ENST00000405362	protein_coding			Pfam_domain:PF09032,hmmpanther:PTHR13164		Y		C		661/2766				B2ZWH1_HUMAN			YES	CACYBP,synonymous_variant,p.=,ENST00000367681,NM_001007214.1;CACYBP,synonymous_variant,p.=,ENST00000367679,NM_014412.2;CACYBP,synonymous_variant,p.=,ENST00000405362,;CACYBP,synonymous_variant,p.=,ENST00000406752,;CACYBP,downstream_gene_variant,,ENST00000426793,;CACYBP,non_coding_transcript_exon_variant,,ENST00000473925,;CACYBP,non_coding_transcript_exon_variant,,ENST00000483307,;CACYBP,non_coding_transcript_exon_variant,,ENST00000461977,;CACYBP,upstream_gene_variant,,ENST00000469173,;							LOW	213/687		CYBP_HUMAN			Transcript			.	ENSP00000356652		CCDS1315.1			1	
XPR1	0	LGGM	GRCh37	1	180794401	180794401	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	67	5	.	.	ENST00000367590.4:c.1055A>T	p.Tyr352Phe	p.Y352F	ENST00000367590	NM_004736.3	352	tAt/tTt	0	1	1	UPI0000071111	0	NA	ENST00000367590		ENSG00000143324	12827		72	1.445		HGNC	p.Y352F		XPR1		SNV			1				ENST00000367590	protein_coding	getma.org/?cm=var&var=hg19,1,180794401,A,T&fts=all		Pfam_domain:PF03124,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF4,Transmembrane_helices:TMhelix		Y/F		T	low	1253/8474		getma.org/?cm=msa&ty=f&p=XPR1_HUMAN&rb=267&re=618&var=Y352F	tolerated(0.22)				YES	XPR1,missense_variant,p.Tyr352Phe,ENST00000367590,NM_004736.3;XPR1,missense_variant,p.Tyr352Phe,ENST00000367589,NM_001135669.1;AL590085.1,downstream_gene_variant,,ENST00000579998,;							MODERATE	1055/2091	Y352F	XPR1_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000356562		CCDS1340.1			1	
XPR1	0	LGGM	GRCh37	1	180794400	180794400	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	66	6	.	.	ENST00000367590.4:c.1054T>A	p.Tyr352Asn	p.Y352N	ENST00000367590	NM_004736.3	352	Tat/Aat	0	1	1	UPI0000071111	0	NA	ENST00000367590		ENSG00000143324	12827		72	2.8		HGNC	p.Y352N		XPR1		SNV			1				ENST00000367590	protein_coding	getma.org/?cm=var&var=hg19,1,180794400,T,A&fts=all		Pfam_domain:PF03124,hmmpanther:PTHR10783,hmmpanther:PTHR10783:SF4,Transmembrane_helices:TMhelix		Y/N		A	medium	1252/8474		getma.org/?cm=msa&ty=f&p=XPR1_HUMAN&rb=267&re=618&var=Y352N	tolerated(0.09)				YES	XPR1,missense_variant,p.Tyr352Asn,ENST00000367590,NM_004736.3;XPR1,missense_variant,p.Tyr352Asn,ENST00000367589,NM_001135669.1;AL590085.1,downstream_gene_variant,,ENST00000579998,;							MODERATE	1054/2091	Y352N	XPR1_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000356562		CCDS1340.1			1	
OR2L2	0	LGGM	GRCh37	1	248202386	248202386	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	120	6	.	.	ENST00000366479.2:c.817C>T	p.Leu273=	p.L273=	ENST00000366479	NM_001004686.2	273	Ctg/Ttg	0	1	1	UPI0000061EAA	0		ENST00000366479		ENSG00000203663	8266		126			HGNC	p.L273L		OR2L2		SNV							ENST00000366479	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237		L		T		913/1134							YES	OR2L2,synonymous_variant,p.=,ENST00000366479,NM_001004686.2;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							LOW	817/939		OR2L2_HUMAN			Transcript			.	ENSP00000355435		CCDS31103.1			1	
CDH11	0	LGGM	GRCh37	16	65016142	65016142	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	38	6	.	.	ENST00000268603.4:c.1062C>G	p.Ile354Met	p.I354M	ENST00000268603	NM_001797.2	354	atC/atG	0	1	1	UPI000013D7C5	0	getma.org/pdb.php?prot=CAD11_HUMAN&from=273&to=375&var=I354M	ENST00000268603		ENSG00000140937	1750		44	2.16		HGNC	p.I354M		CDH11		SNV							ENST00000268603	protein_coding	getma.org/?cm=var&var=hg19,16,65016142,G,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		I/M		C	medium	1678/6857		getma.org/?cm=msa&ty=f&p=CAD11_HUMAN&rb=273&re=375&var=I354M	tolerated(0.09)	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN			YES	CDH11,missense_variant,p.Ile354Met,ENST00000394156,;CDH11,missense_variant,p.Ile354Met,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Ile228Met,ENST00000566827,;							MODERATE	1062/2391	I354M	CAD11_HUMAN			Transcript		possibly_damaging(0.782)	.	ENSP00000268603		CCDS10803.1			1	
TOP1MT	0	LGGM	GRCh37	8	144411613	144411613	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	46	6	.	.	ENST00000329245.4:c.267G>A	p.Ala89=	p.A89=	ENST00000329245	NM_052963.2	89	gcG/gcA	0	1	1	UPI000013716D	0		ENST00000329245		ENSG00000184428	29787		52			HGNC	p.A58A	rs529867928	TOP1MT	0.000908	SNV							ENST00000518007	protein_coding		T:0	hmmpanther:PTHR10290,Gene3D:1oisA01,Pfam_domain:PF02919,Superfamily_domains:SSF56741		A		T		302/1958				E5KMK7_HUMAN,Q8TBP3_HUMAN,E5RJ95_HUMAN,E5RJ33_HUMAN,E5RFS0_HUMAN	T:0	T:0	YES	TOP1MT,synonymous_variant,p.=,ENST00000329245,NM_052963.2;TOP1MT,synonymous_variant,p.=,ENST00000518760,;TOP1MT,synonymous_variant,p.=,ENST00000518007,;TOP1MT,synonymous_variant,p.=,ENST00000522043,;TOP1MT,5_prime_UTR_variant,,ENST00000523676,;TOP1MT,5_prime_UTR_variant,,ENST00000521193,NM_001258446.1;TOP1MT,5_prime_UTR_variant,,ENST00000519148,NM_001258447.1;TOP1MT,5_prime_UTR_variant,,ENST00000519139,;TOP1MT,5_prime_UTR_variant,,ENST00000519591,;TOP1MT,5_prime_UTR_variant,,ENST00000522041,;TOP1MT,5_prime_UTR_variant,,ENST00000520950,;TOP1MT,downstream_gene_variant,,ENST00000524092,;TOP1MT,synonymous_variant,p.=,ENST00000518951,;TOP1MT,synonymous_variant,p.=,ENST00000523417,;TOP1MT,upstream_gene_variant,,ENST00000522121,;	0.000231	T:0.0002					LOW	267/1806		TOP1M_HUMAN		T:0	Transcript			common_variant	ENSP00000328835	0.000148	CCDS6400.1	0.0011	T:0.001	1	
MYH11	0	LGGM	GRCh37	16	15797979	15797979	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	53	6	.	.	ENST00000396324.3:c.5809C>A	p.Arg1937=	p.R1937=	ENST00000396324	NM_001040114.1	1937	Cga/Aga	0	1		UPI000012FB86	0		ENST00000300036		ENSG00000133392	7569		59			HGNC	p.R1937R		MYH11		SNV			1				ENST00000396324	protein_coding			Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335		R		T		5898/6029				Q68D89_HUMAN,Q66K75_HUMAN				MYH11,splice_region_variant,,ENST00000452625,NM_001040113.1;MYH11,splice_region_variant,p.=,ENST00000396324,NM_001040114.1;MYH11,splice_region_variant,,ENST00000576790,NM_022844.2;MYH11,splice_region_variant,p.=,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,downstream_gene_variant,,ENST00000396353,;NDE1,downstream_gene_variant,,ENST00000576502,;NDE1,downstream_gene_variant,,ENST00000574109,;MYH11,splice_region_variant,,ENST00000573908,;							LOW	5788/5919		MYH11_HUMAN			Transcript			.	ENSP00000300036		CCDS10565.1			1	
VSTM1	0	LGGM	GRCh37	19	54561657	54561657	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	50	6	.	.	ENST00000338372.2:c.258G>A	p.Leu86=	p.L86=	ENST00000338372	NM_198481.3	86	ctG/ctA	0	1	1	UPI00001D8195	0		ENST00000338372		ENSG00000189068	29455		56			HGNC	p.L86L		VSTM1		SNV							ENST00000447872	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11738:SF29,hmmpanther:PTHR11738,PROSITE_profiles:PS50835		L		T		434/1023							YES	VSTM1,synonymous_variant,p.=,ENST00000338372,NM_198481.3;VSTM1,synonymous_variant,p.=,ENST00000376626,NM_001288792.1;VSTM1,synonymous_variant,p.=,ENST00000425006,;VSTM1,synonymous_variant,p.=,ENST00000419106,;VSTM1,intron_variant,,ENST00000366170,NM_001288791.1;VSTM1,synonymous_variant,p.=,ENST00000447872,;							LOW	258/711		VSTM1_HUMAN			Transcript			.	ENSP00000343366		CCDS12872.1			1	
CWF19L2	0	LGGM	GRCh37	11	107299654	107299654	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	174	6	.	.	ENST00000282251.5:c.1304C>T	p.Pro435Leu	p.P435L	ENST00000282251	NM_152434.2	435	cCa/cTa	0	1	1	UPI00005A81B4	0	NA	ENST00000282251		ENSG00000152404	26508		180	1.59		HGNC	p.P316L		CWF19L2		SNV							ENST00000431778	protein_coding	getma.org/?cm=var&var=hg19,11,107299654,G,A&fts=all		hmmpanther:PTHR12072:SF5,hmmpanther:PTHR12072		P/L		A	low	1332/3278		getma.org/?cm=msa&ty=f&p=C19L2_HUMAN&rb=1&re=538&var=P435L	deleterious(0.03)	Q6PIV4_HUMAN			YES	CWF19L2,missense_variant,p.Pro435Leu,ENST00000282251,NM_152434.2;CWF19L2,missense_variant,p.Pro435Leu,ENST00000433523,;CWF19L2,missense_variant,p.Pro316Leu,ENST00000431778,;CWF19L2,missense_variant,p.Pro316Leu,ENST00000532251,;							MODERATE	1304/2685	P435L	C19L2_HUMAN			Transcript		benign(0.005)	.	ENSP00000282251		CCDS8336.2			1	
DDX55	0	LGGM	GRCh37	12	124104520	124104520	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	59	7	.	.	ENST00000238146.4:c.1636A>G	p.Ile546Val	p.I546V	ENST00000238146	NM_020936.1	546	Att/Gtt	0	1	1	UPI000004F594	0	NA	ENST00000238146		ENSG00000111364	20085		66	0.71		HGNC	p.I515V		DDX55		SNV							ENST00000538744	protein_coding	getma.org/?cm=var&var=hg19,12,124104520,A,G&fts=all				I/V		G	neutral	1686/2654		getma.org/?cm=msa&ty=f&p=DDX55_HUMAN&rb=466&re=600&var=I546V	tolerated(0.56)	Q8IYH0_HUMAN			YES	DDX55,missense_variant,p.Ile546Val,ENST00000238146,NM_020936.1;DDX55,missense_variant,p.Ile515Val,ENST00000538744,;DDX55,missense_variant,p.Ile153Val,ENST00000421670,;EIF2B1,downstream_gene_variant,,ENST00000424014,NM_001414.3;EIF2B1,downstream_gene_variant,,ENST00000539951,;EIF2B1,downstream_gene_variant,,ENST00000534960,;SNORA9,downstream_gene_variant,,ENST00000384170,;DDX55,downstream_gene_variant,,ENST00000541259,;DDX55,downstream_gene_variant,,ENST00000542286,;DDX55,downstream_gene_variant,,ENST00000539934,;DDX55,downstream_gene_variant,,ENST00000354291,;DDX55,downstream_gene_variant,,ENST00000544738,;DDX55,downstream_gene_variant,,ENST00000543016,;							MODERATE	1636/1803	I546V	DDX55_HUMAN			Transcript		benign(0.001)	.	ENSP00000238146		CCDS9251.1			1	
ANK2	0	LGGM	GRCh37	4	114278264	114278264	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	100	7	.	.	ENST00000357077.4:c.8490T>C	p.Ser2830=	p.S2830=	ENST00000357077	NM_001148.4	2830	tcT/tcC	0	1	1	UPI0000441EF3	0		ENST00000357077		ENSG00000145362	493		107			HGNC	p.S2797S		ANK2		SNV			1				ENST00000264366	protein_coding			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		S		C		8543/14196				D6RHC5_HUMAN			YES	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,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,;							LOW	8490/11874		ANK2_HUMAN			Transcript			.	ENSP00000349588		CCDS3702.1			1	
STIP1	0	LGGM	GRCh37	11	63965362	63965362	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	126	8	.	.	ENST00000305218.4:c.939A>G	p.Glu313=	p.E313=	ENST00000305218	NM_006819.2	313	gaA/gaG	0	1	1	UPI000012D225	0		ENST00000305218		ENSG00000168439	11387		134			HGNC	p.E313E		STIP1		SNV							ENST00000305218	protein_coding			PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR22904,hmmpanther:PTHR22904:SF296,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452		E		G		1086/2196							YES	STIP1,synonymous_variant,p.=,ENST00000358794,NM_001282652.1;STIP1,synonymous_variant,p.=,ENST00000305218,NM_006819.2;STIP1,synonymous_variant,p.=,ENST00000538945,NM_001282653.1;STIP1,upstream_gene_variant,,ENST00000540887,;STIP1,downstream_gene_variant,,ENST00000543847,;STIP1,non_coding_transcript_exon_variant,,ENST00000537479,;STIP1,non_coding_transcript_exon_variant,,ENST00000544739,;STIP1,downstream_gene_variant,,ENST00000540501,;STIP1,non_coding_transcript_exon_variant,,ENST00000538497,;STIP1,intron_variant,,ENST00000536973,;STIP1,upstream_gene_variant,,ENST00000355603,;STIP1,downstream_gene_variant,,ENST00000540736,;							LOW	939/1632		STIP1_HUMAN			Transcript			.	ENSP00000305958		CCDS8058.1			1	
AHNAK2	0	LGGM	GRCh37	14	105418177	105418177	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093770	H093770N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	135	8	.	.	ENST00000333244.5:c.3611G>T	p.Gly1204Val	p.G1204V	ENST00000333244	NM_138420.2	1204	gGg/gTg	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		143	2.71		HGNC	p.G1204V		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105418177,C,A&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		G/V		A	medium	3731/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1201&re=1400&var=G1204V					YES	AHNAK2,missense_variant,p.Gly1204Val,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	3611/17388	G1204V	AHNK2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000353114		CCDS45177.1			1	
WDR36	0	LGGM	GRCh37	5	110440398	110440398	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	55	9	.	.	ENST00000506538.2:c.1077A>G	p.Ile359Met	p.I359M	ENST00000506538	NM_139281.2	359	atA/atG	0	1	1	UPI000007018C	0	getma.org/pdb.php?prot=WDR36_HUMAN&from=201&to=400&var=I359M	ENST00000506538		ENSG00000134987	30696		64	-0.83		HGNC	p.I359M		WDR36		SNV			1				ENST00000513710	protein_coding	getma.org/?cm=var&var=hg19,5,110440398,A,G&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR13889,hmmpanther:PTHR13889:SF2,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978,Superfamily_domains:SSF50978		I/M		G	neutral	1650/7048		getma.org/?cm=msa&ty=f&p=WDR36_HUMAN&rb=201&re=400&var=I359M	tolerated(0.6)	D6RFM8_HUMAN			YES	WDR36,missense_variant,p.Ile359Met,ENST00000506538,NM_139281.2;WDR36,missense_variant,p.Ile359Met,ENST00000513710,;WDR36,missense_variant,p.Ile303Met,ENST00000505303,;WDR36,downstream_gene_variant,,ENST00000504122,;							MODERATE	1077/2856	I359M	WDR36_HUMAN			Transcript		benign(0.04)	.	ENSP00000423067		CCDS4102.1			1	
ACKR2	0	LGGM	GRCh37	3	42906869	42906869	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	91	10	.	.	ENST00000422265.1:c.875A>G	p.Tyr292Cys	p.Y292C	ENST00000422265	NM_001296.4	292	tAc/tGc	0	1		UPI000004358E	0	getma.org/pdb.php?prot=CCBP2_HUMAN&from=63&to=312&var=Y292C	ENST00000273145		ENSG00000144648	1565		101	2.68		HGNC	p.Y292C	COSM4117662	ACKR2		SNV						1	ENST00000422265	protein_coding	getma.org/?cm=var&var=hg19,3,42906869,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00657,PROSITE_profiles:PS50262,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF10,Superfamily_domains:SSF81321		Y/C		G	medium	1005/2910		getma.org/?cm=msa&ty=f&p=CCBP2_HUMAN&rb=63&re=312&var=Y292C	deleterious(0)					ACKR2,missense_variant,p.Tyr292Cys,ENST00000422265,NM_001296.4;ACKR2,missense_variant,p.Tyr292Cys,ENST00000273145,;ACKR2,missense_variant,p.Tyr292Cys,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,;					1		MODERATE	875/1155	Y292C	ACKR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000273145		CCDS2706.1			1	
LCE2B	0	LGGM	GRCh37	1	152659593	152659593	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	49	11	.	.	ENST00000368780.3:c.274T>A	p.Cys92Ser	p.C92S	ENST00000368780	NM_014357.4	92	Tgt/Agt	0	1	1	UPI000006D1D2	0	NA	ENST00000368780		ENSG00000159455	16610		60	2.74		HGNC	p.C92S		LCE2B		SNV							ENST00000417924	protein_coding	getma.org/?cm=var&var=hg19,1,152659593,T,A&fts=all		Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Low_complexity_(Seg):seg		C/S		A	medium	328/612		getma.org/?cm=msa&ty=f&p=LCE2B_HUMAN&rb=1&re=109&var=C92S	tolerated_low_confidence(0.88)				YES	LCE2B,missense_variant,p.Cys92Ser,ENST00000368780,NM_014357.4;LCE2B,missense_variant,p.Cys92Ser,ENST00000417924,;							MODERATE	274/333	C92S	LCE2B_HUMAN			Transcript		unknown(0)	.	ENSP00000357769		CCDS1020.1			1	
RCOR1	0	LGGM	GRCh37	14	103174817	103174817	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093770	H093770N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	106	12	.	.	ENST00000262241.6:c.676A>G	p.Ile226Val	p.I226V	ENST00000262241	NM_015156.3	226	Ata/Gta	0	1		UPI0000073120	0	getma.org/pdb.php?prot=RCOR1_HUMAN&from=187&to=238&var=I223V	ENST00000570597		ENSG00000089902	17441		118	-0.25		HGNC	p.I223V		RCOR1		SNV							ENST00000570597	protein_coding	getma.org/?cm=var&var=hg19,14,103174817,A,G&fts=all		PROSITE_profiles:PS51293,hmmpanther:PTHR16089,hmmpanther:PTHR16089:SF11,SMART_domains:SM00717,Superfamily_domains:SSF46689		I/V		G	neutral	667/5518		getma.org/?cm=msa&ty=f&p=RCOR1_HUMAN&rb=187&re=238&var=I223V	tolerated(0.06)					RCOR1,missense_variant,p.Ile226Val,ENST00000262241,NM_015156.3;RCOR1,missense_variant,p.Ile223Val,ENST00000570597,;RCOR1,upstream_gene_variant,,ENST00000558495,;							MODERATE	667/1449	I223V	RCOR1_HUMAN			Transcript		benign(0.241)	.	ENSP00000459789					1	
PCLO	0	LGGM	GRCh37	7	82579534	82579534	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	177	13	.	.	ENST00000333891.9:c.10370A>C	p.Tyr3457Ser	p.Y3457S	ENST00000333891	NM_033026.5	3457	tAt/tCt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		190	1.905		HGNC	p.Y3457S		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82579534,T,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		Y/S		G	medium	10708/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=Y3388S					YES	PCLO,missense_variant,p.Tyr3457Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Tyr3457Ser,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Tyr177Ser,ENST00000437081,;							MODERATE	10370/15429	Y3388S	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
ARFGEF1	0	LGGM	GRCh37	8	68184073	68184073	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	38	14	.	.	ENST00000262215.3:c.1436A>T	p.Asn479Ile	p.N479I	ENST00000262215	NM_006421.4	479	aAt/aTt	0	1	1	UPI000013D275	0	NA	ENST00000262215		ENSG00000066777	15772		52	1.645		HGNC	p.N479I		ARFGEF1		SNV							ENST00000262215	protein_coding	getma.org/?cm=var&var=hg19,8,68184073,T,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF12783,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137,Superfamily_domains:SSF48371		N/I		A	low	1826/7225		getma.org/?cm=msa&ty=f&p=BIG1_HUMAN&rb=416&re=579&var=N479I	tolerated(0.44)	E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN			YES	ARFGEF1,missense_variant,p.Asn479Ile,ENST00000262215,NM_006421.4;ARFGEF1,upstream_gene_variant,,ENST00000520381,;							MODERATE	1436/5550	N479I	BIG1_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000262215		CCDS6199.1			1	
PRKDC	0	LGGM	GRCh37	8	48732059	48732059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093770	H093770N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	38	15	.	.	ENST00000314191.2:c.9346A>G	p.Ile3116Val	p.I3116V	ENST00000314191	NM_006904.6	3116	Att/Gtt	0	1	1	UPI000045790C	0	NA	ENST00000314191		ENSG00000253729	9413		53	1.87		HGNC	p.I3116V		PRKDC		SNV			1				ENST00000314191	protein_coding	getma.org/?cm=var&var=hg19,8,48732059,T,C&fts=all		PROSITE_profiles:PS51189,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Pfam_domain:PF02259		I/V		C	low	9403/13506		getma.org/?cm=msa&ty=f&p=PRKDC_HUMAN&rb=3023&re=3470&var=I3117V		F5GX40_HUMAN			YES	PRKDC,missense_variant,p.Ile3116Val,ENST00000314191,NM_006904.6;PRKDC,missense_variant,p.Ile3116Val,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;							MODERATE	9346/12384	I3117V	PRKDC_HUMAN			Transcript		benign(0.042)	.	ENSP00000313420					1	
PRAMEF11	0	LGGM	GRCh37	1	12884936	12884936	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093770	H093770N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093770N.bam, H093770T.bam	Illumina HiSeq	230	17	.	.	ENST00000535591.1:c.1175C>A	p.Ala392Asp	p.A392D	ENST00000535591	NM_001146344.1	392	gCt/gAt	0	1	1	UPI00001D7634	0	NA	ENST00000535591		ENSG00000204513	14086		247	2.025		HGNC	p.A392D		PRAMEF11		SNV							ENST00000437584	protein_coding	getma.org/?cm=var&var=hg19,1,12884936,G,T&fts=all		hmmpanther:PTHR14224:SF19,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286		A/D		T	medium	1371/1839		getma.org/?cm=msa&ty=f&p=PRA11_HUMAN&rb=201&re=400&var=A392D	deleterious(0.01)				YES	PRAMEF11,missense_variant,p.Ala392Asp,ENST00000535591,NM_001146344.1;PRAMEF11,missense_variant,p.Ala392Asp,ENST00000437584,;RP5-845O24.8,upstream_gene_variant,,ENST00000438401,;							MODERATE	1175/1311	A392D	PRA11_HUMAN			Transcript		benign(0.019)	.	ENSP00000439551		CCDS53268.1			1	
NHSL2	0	LGGM	GRCh37	X	71359346	71359346	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	17	2	.	.	ENST00000540800.1:c.1948C>G	p.Gln650Glu	p.Q650E	ENST00000540800	NM_001013627.2	650	Caa/Gaa	0	1		UPI0001D3B33F	0	NA	ENST00000510661		ENSG00000204131	33737		19	1.39		HGNC	p.Q419E		NHSL2		SNV							ENST00000510661	protein_coding	getma.org/?cm=var&var=hg19,X,71359346,C,G&fts=all		Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2,Low_complexity_(Seg):seg		Q/E		G	low	1321/3082		getma.org/?cm=msa&ty=f&p=NHSL2_HUMAN&rb=1&re=707&var=Q284E	deleterious(0.01)	D6RBM4_HUMAN				NHSL2,missense_variant,p.Gln284Glu,ENST00000373677,;NHSL2,missense_variant,p.Gln650Glu,ENST00000540800,NM_001013627.2;NHSL2,missense_variant,p.Gln419Glu,ENST00000510661,;NHSL2,missense_variant,p.Gln284Glu,ENST00000535692,;RP11-262D11.2,upstream_gene_variant,,ENST00000456343,;RP11-262D11.1,downstream_gene_variant,,ENST00000513469,;							MODERATE	1255/2535	Q284E				Transcript		possibly_damaging(0.57)	.	ENSP00000424079					1	
SLIT2	0	LGGM	GRCh37	4	20591278	20591278	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	10	2	.	.	ENST00000504154.1:c.3100G>C	p.Glu1034Gln	p.E1034Q	ENST00000504154	NM_004787.1	1034	Gag/Cag	0	1	1	UPI00000747E4	0	getma.org/pdb.php?prot=SLIT2_HUMAN&from=998&to=1034&var=E1034Q	ENST00000504154		ENSG00000145147	11086		12	1.43		HGNC	p.E1026Q		SLIT2		SNV							ENST00000503823	protein_coding	getma.org/?cm=var&var=hg19,4,20591278,G,C&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57196		E/Q		C	low	3352/6390		getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=998&re=1034&var=E1034Q	deleterious(0.03)	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,missense_variant,p.Glu1034Gln,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.Glu1026Gln,ENST00000503823,;SLIT2,missense_variant,p.Glu1047Gln,ENST00000273739,;SLIT2,missense_variant,p.Glu1030Gln,ENST00000503837,;							MODERATE	3100/4590	E1034Q	SLIT2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000422591		CCDS3426.1			1	
ZNG1F	0	LGGM	GRCh37	9	69206947	69206947	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	10	2	.	.	ENST00000377457.5:c.841G>T	p.Val281Leu	p.V281L	ENST00000377457	NM_001085457.1	281	Gta/Tta	0	1	1	UPI0000519163	0	NA	ENST00000377457		ENSG00000204790	31978		12	1.375		HGNC	p.V281L		CBWD6		SNV							ENST00000377457	protein_coding	getma.org/?cm=var&var=hg19,9,69206947,C,A&fts=all		hmmpanther:PTHR13748,hmmpanther:PTHR13748:SF35,Gene3D:1nijA02,Pfam_domain:PF07683,SMART_domains:SM00833,Superfamily_domains:0041413		V/L		A	low	947/1719		getma.org/?cm=msa&ty=f&p=CBWD6_HUMAN&rb=274&re=377&var=V281L	tolerated(0.19)	S4R432_HUMAN,Q9HAZ6_HUMAN,Q5RIB5_HUMAN			YES	CBWD6,missense_variant,p.Val40Leu,ENST00000416428,;CBWD6,missense_variant,p.Val281Leu,ENST00000377457,NM_001085457.1;CBWD6,missense_variant,p.Val245Leu,ENST00000377449,;CBWD6,missense_variant,p.Val261Leu,ENST00000382399,;FOXD4L6,upstream_gene_variant,,ENST00000377473,NM_001085476.1;CBWD6,non_coding_transcript_exon_variant,,ENST00000468061,;CBWD6,non_coding_transcript_exon_variant,,ENST00000477430,;CBWD6,non_coding_transcript_exon_variant,,ENST00000495626,;CBWD6,non_coding_transcript_exon_variant,,ENST00000461037,;CBWD6,non_coding_transcript_exon_variant,,ENST00000498101,;CBWD6,non_coding_transcript_exon_variant,,ENST00000468763,;CBWD6,non_coding_transcript_exon_variant,,ENST00000466320,;							MODERATE	841/1188	V281L	CBWD6_HUMAN			Transcript		benign(0.146)	.	ENSP00000366677		CCDS43827.1			1	
POMGNT2	0	LGGM	GRCh37	3	43121669	43121669	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	8	2	.	.	ENST00000344697.2:c.1255C>A	p.Arg419=	p.R419=	ENST00000344697	NM_032806.5	419	Cgg/Agg	0	1	1	UPI0000037921	0		ENST00000344697		ENSG00000144647	25902		10			HGNC	p.R419R		POMGNT2		SNV			1				ENST00000344697	protein_coding			hmmpanther:PTHR20961:SF0,hmmpanther:PTHR20961		R		T		1601/2544							YES	POMGNT2,synonymous_variant,p.=,ENST00000344697,NM_032806.5;POMGNT2,synonymous_variant,p.=,ENST00000441964,;							LOW	1255/1743		PMGT2_HUMAN			Transcript			.	ENSP00000344125		CCDS2709.1			1	
WFIKKN1	0	LGGM	GRCh37	16	682943	682943	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	10	2	.	.	ENST00000319070.2:c.533C>A	p.Thr178Lys	p.T178K	ENST00000319070	NM_053284.2	178	aCa/aAa	0	1	1	UPI0000043725	0	NA	ENST00000319070		ENSG00000127578	30912		12	2.28		HGNC	p.T178K		WFIKKN1		SNV							ENST00000319070	protein_coding	getma.org/?cm=var&var=hg19,16,682943,C,A&fts=all		hmmpanther:PTHR10083:SF87,hmmpanther:PTHR10083		T/K		A	medium	855/2028		getma.org/?cm=msa&ty=f&p=WFKN1_HUMAN&rb=128&re=215&var=T178K	deleterious(0.01)				YES	WFIKKN1,missense_variant,p.Thr178Lys,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,;							MODERATE	533/1647	T178K	WFKN1_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000324763		CCDS10414.1			1	
RAP1GDS1	0	LGGM	GRCh37	4	99338579	99338579	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	16	2	.	.	ENST00000339360.5:c.972T>C	p.Ser324=	p.S324=	ENST00000339360		324	tcT/tcC	0	1		UPI000020B1F1	0		ENST00000408927		ENSG00000138698	9859		18			HGNC	p.S323S		RAP1GDS1		SNV							ENST00000408927	protein_coding			hmmpanther:PTHR10957:SF2,hmmpanther:PTHR10957,Superfamily_domains:SSF48371		S		C		1082/3681								RAP1GDS1,synonymous_variant,p.=,ENST00000408927,NM_021159.4,NM_001100426.1,NM_001100427.1;RAP1GDS1,synonymous_variant,p.=,ENST00000453712,;RAP1GDS1,synonymous_variant,p.=,ENST00000339360,;RAP1GDS1,synonymous_variant,p.=,ENST00000380158,NM_001100428.1,NM_001100429.1;RAP1GDS1,synonymous_variant,p.=,ENST00000408900,;RAP1GDS1,synonymous_variant,p.=,ENST00000264572,NM_001100430.1;RAP1GDS1,synonymous_variant,p.=,ENST00000509501,;							LOW	969/1824		GDS1_HUMAN			Transcript			.	ENSP00000386153		CCDS43253.1			1	
KRI1	0	LGGM	GRCh37	19	10671074	10671074	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	18	2	.	.	ENST00000312962.6:c.732G>C	p.Arg244=	p.R244=	ENST00000312962	NM_023008.3	244	cgG/cgC	0	1	1	UPI0000246DCC	0		ENST00000312962		ENSG00000129347	25769		20			HGNC	p.R240R		KRI1		SNV							ENST00000361821	protein_coding			hmmpanther:PTHR14490		R		G		752/3016							YES	KRI1,synonymous_variant,p.=,ENST00000312962,NM_023008.3;KRI1,synonymous_variant,p.=,ENST00000361821,;KRI1,synonymous_variant,p.=,ENST00000543682,;KRI1,intron_variant,,ENST00000539027,;KRI1,downstream_gene_variant,,ENST00000537964,;KRI1,3_prime_UTR_variant,,ENST00000432197,;KRI1,3_prime_UTR_variant,,ENST00000546063,;KRI1,non_coding_transcript_exon_variant,,ENST00000536689,;KRI1,non_coding_transcript_exon_variant,,ENST00000478863,;KRI1,upstream_gene_variant,,ENST00000537363,;KRI1,upstream_gene_variant,,ENST00000536714,;KRI1,upstream_gene_variant,,ENST00000537433,;KRI1,upstream_gene_variant,,ENST00000543842,;KRI1,downstream_gene_variant,,ENST00000544397,;							LOW	732/2130		KRI1_HUMAN			Transcript			.	ENSP00000320917		CCDS12242.1			1	
INPP5F	0	LGGM	GRCh37	10	121565971	121565971	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	7	2	.	.	ENST00000361976.2:c.1419G>T	p.Ala473=	p.A473=	ENST00000361976	NM_014937.3	473	gcG/gcT	0	1	1	UPI000006FBCA	0		ENST00000361976		ENSG00000198825	17054		9			HGNC	p.A473A		INPP5F		SNV							ENST00000361976	protein_coding			PROSITE_profiles:PS50275,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF129		A		T		1585/4925							YES	INPP5F,synonymous_variant,p.=,ENST00000361976,NM_014937.3;							LOW	1419/3399		SAC2_HUMAN			Transcript			.	ENSP00000354519		CCDS7616.1			1	
CACNA1G	0	LGGM	GRCh37	17	48653559	48653559	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	8	2	.	.	ENST00000359106.5:c.1796C>A	p.Pro599Gln	p.P599Q	ENST00000359106	NM_018896.4	599	cCg/cAg	0	1	1	UPI000012727A	0	NA	ENST00000359106		ENSG00000006283	1394		10	0.895		HGNC	p.P599Q		CACNA1G		SNV							ENST00000514717	protein_coding	getma.org/?cm=var&var=hg19,17,48653559,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137		P/Q		A	low	1796/7648		getma.org/?cm=msa&ty=f&p=CAC1G_HUMAN&rb=595&re=776&var=P599Q	tolerated(0.1)				YES	CACNA1G,missense_variant,p.Pro599Gln,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Pro599Gln,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000442258,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000358244,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000510115,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Pro599Gln,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000512389,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000514717,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Pro599Gln,ENST00000507896,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000416767,;CACNA1G,downstream_gene_variant,,ENST00000570567,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000506406,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000504076,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000511765,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000503436,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000511768,;CACNA1G,missense_variant,p.Pro599Gln,ENST00000503607,;							MODERATE	1796/7134	P599Q	CAC1G_HUMAN			Transcript		benign(0.01)	.	ENSP00000352011		CCDS45730.1			1	
IFITM3	0	LGGM	GRCh37	11	320606	320606	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	37	5	.	.	ENST00000399808.4:c.208C>A	p.Pro70Thr	p.P70T	ENST00000399808	NM_021034.2	70	Ccc/Acc	0	1	1	UPI00000465C0	0	NA	ENST00000399808		ENSG00000142089	5414	0.0386	42	0.895		HGNC	p.P70T	rs199749095,COSM42691	IFITM3	0.0776	SNV			1	0.0604		0,1	ENST00000399808	protein_coding	getma.org/?cm=var&var=hg19,11,320606,G,T&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8,Transmembrane_helices:TMhelix		P/T		T	low	445/808	0.0502	getma.org/?cm=msa&ty=f&p=IFM3_HUMAN&rb=41&re=122&var=P70T	tolerated(0.45)	E9PS44_HUMAN			YES	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,;	0.0105				0,1		MODERATE	208/402	P70T	IFM3_HUMAN	0.0265		Transcript		benign(0.001)	common_variant	ENSP00000382707	0.0511	CCDS41585.1	0.0547		1	23658454
ZBTB40	0	LGGM	GRCh37	1	22835022	22835022	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	34	3	.	.	ENST00000404138.1:c.1498-1G>T		p.X500_splice	ENST00000404138	NM_001083621.1			0	1		UPI0000204652	0		ENST00000375647		ENSG00000184677	29045		37			HGNC	-		ZBTB40		SNV							ENST00000404138	protein_coding							T		-/8685				B1AKC8_HUMAN				ZBTB40,splice_acceptor_variant,,ENST00000404138,NM_001083621.1;ZBTB40,splice_acceptor_variant,,ENST00000375647,NM_014870.3;ZBTB40,splice_acceptor_variant,,ENST00000374651,;ZBTB40,downstream_gene_variant,,ENST00000400239,;							HIGH	1498/3720		ZBT40_HUMAN			Transcript			.	ENSP00000364798		CCDS224.1			1	
HP1BP3	0	LGGM	GRCh37	1	21100012	21100012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	40	3	.	.	ENST00000312239.5:c.442C>A	p.Gln148Lys	p.Q148K	ENST00000312239	NM_016287.3	148	Cag/Aag	0	1	1	UPI0000036038	0	NA	ENST00000312239		ENSG00000127483	24973		43	0.805		HGNC	p.Q110K		HP1BP3		SNV							ENST00000375004	protein_coding	getma.org/?cm=var&var=hg19,1,21100012,G,T&fts=all		hmmpanther:PTHR15832,hmmpanther:PTHR15832:SF1		Q/K		T	low	582/3938		getma.org/?cm=msa&ty=f&p=HP1B3_HUMAN&rb=1&re=156&var=Q148K	deleterious(0.04)	Q5SWC8_HUMAN,B4E0N8_HUMAN,B0QZK9_HUMAN,B0QZK8_HUMAN,B0QZK6_HUMAN,B0QZK5_HUMAN			YES	HP1BP3,missense_variant,p.Gln148Lys,ENST00000312239,NM_016287.3;HP1BP3,missense_variant,p.Gln148Lys,ENST00000438032,;HP1BP3,missense_variant,p.Gln110Lys,ENST00000424732,;HP1BP3,missense_variant,p.Gln34Lys,ENST00000419948,;HP1BP3,5_prime_UTR_variant,,ENST00000375003,;HP1BP3,downstream_gene_variant,,ENST00000375000,;HP1BP3,downstream_gene_variant,,ENST00000414993,;HP1BP3,downstream_gene_variant,,ENST00000417710,;HP1BP3,downstream_gene_variant,,ENST00000419490,;HP1BP3,downstream_gene_variant,,ENST00000437575,;HP1BP3,downstream_gene_variant,,ENST00000487117,;							MODERATE	442/1662	Q148K	HP1B3_HUMAN			Transcript		possibly_damaging(0.761)	.	ENSP00000312625		CCDS30621.1			1	
VWA3A	0	LGGM	GRCh37	16	22120826	22120826	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	28	3	.	.	ENST00000389398.5:c.507C>A	p.Ala169=	p.A169=	ENST00000389398	NM_173615.3	169	gcC/gcA	0	1	1	UPI0001663067	0		ENST00000389398		ENSG00000175267	27088		31			HGNC	p.A169A		VWA3A		SNV							ENST00000568328	protein_coding			hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF105,Superfamily_domains:SSF53300		A		A		603/4600				H3BTX3_HUMAN			YES	VWA3A,synonymous_variant,p.=,ENST00000389398,NM_173615.3;VWA3A,synonymous_variant,p.=,ENST00000568328,;VWA3A,5_prime_UTR_variant,,ENST00000389397,;VWA3A,5_prime_UTR_variant,,ENST00000567131,;VWA3A,non_coding_transcript_exon_variant,,ENST00000566668,;VWA3A,intron_variant,,ENST00000562340,;							LOW	507/3555		VWA3A_HUMAN			Transcript			.	ENSP00000374049		CCDS45441.1			1	
LRRC38	0	LGGM	GRCh37	1	13839788	13839788	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	14	3	.	.	ENST00000376085.3:c.301A>T	p.Ser101Cys	p.S101C	ENST00000376085	NM_001010847.1	101	Agc/Tgc	0	1	1	UPI00001C1D7E	0	getma.org/pdb.php?prot=LRC38_HUMAN&from=81&to=103&var=S101C	ENST00000376085		ENSG00000162494	27005		17	1.255		HGNC	p.S101C		LRRC38		SNV							ENST00000376085	protein_coding	getma.org/?cm=var&var=hg19,1,13839788,T,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,SMART_domains:SM00369,Superfamily_domains:SSF52058		S/C		A	low	756/2209		getma.org/?cm=msa&ty=f&p=LRC38_HUMAN&rb=61&re=123&var=S101C	tolerated(0.1)				YES	LRRC38,missense_variant,p.Ser101Cys,ENST00000376085,NM_001010847.1;RP4-597A16.2,non_coding_transcript_exon_variant,,ENST00000563570,;							MODERATE	301/885	S101C	LRC38_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000365253		CCDS53269.1			1	
MMAB	0	LGGM	GRCh37	12	110011275	110011275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	5	3	.	.	ENST00000545712.2:c.11G>T	p.Cys4Phe	p.C4F	ENST00000545712	NM_052845.3	4	tGc/tTc	0	1	1	UPI0000073CBF	0	NA	ENST00000545712		ENSG00000139428	19331		8	0		HGNC	p.C4F		MMAB		SNV			1				ENST00000544051	protein_coding	getma.org/?cm=var&var=hg19,12,110011275,C,A&fts=all				C/F		A	neutral	405/4438		getma.org/?cm=msa&ty=f&p=MMAB_HUMAN&rb=1&re=57&var=C4F	tolerated_low_confidence(0.36)	F5H4Z7_HUMAN			YES	MMAB,missense_variant,p.Cys4Phe,ENST00000545712,NM_052845.3;MMAB,missense_variant,p.Cys4Phe,ENST00000540016,;MMAB,5_prime_UTR_variant,,ENST00000266839,;MVK,5_prime_UTR_variant,,ENST00000546277,;MVK,5_prime_UTR_variant,,ENST00000539335,;MVK,upstream_gene_variant,,ENST00000228510,NM_001114185.1,NM_000431.2;MVK,upstream_gene_variant,,ENST00000392727,;MVK,upstream_gene_variant,,ENST00000539575,;MVK,upstream_gene_variant,,ENST00000541384,;MVK,upstream_gene_variant,,ENST00000539696,;MVK,non_coding_transcript_exon_variant,,ENST00000535044,;MMAB,missense_variant,p.Cys4Phe,ENST00000541763,;MMAB,missense_variant,p.Cys4Phe,ENST00000537496,;MMAB,missense_variant,p.Cys4Phe,ENST00000544051,;MMAB,missense_variant,p.Cys4Phe,ENST00000420167,;MMAB,missense_variant,p.Cys4Phe,ENST00000503497,;MMAB,non_coding_transcript_exon_variant,,ENST00000537236,;MMAB,non_coding_transcript_exon_variant,,ENST00000536760,;MMAB,non_coding_transcript_exon_variant,,ENST00000542390,;MVK,upstream_gene_variant,,ENST00000447878,;MVK,upstream_gene_variant,,ENST00000537237,;MVK,upstream_gene_variant,,ENST00000545774,;							MODERATE	11/753	C4F	MMAB_HUMAN			Transcript		benign(0.308)	.	ENSP00000445920		CCDS9131.1			1	
COL7A1	0	LGGM	GRCh37	3	48627079	48627079	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	28	3	.	.	ENST00000328333.8:c.2123G>T	p.Arg708Met	p.R708M	ENST00000328333	NM_000094.3	708	aGg/aTg	0	1	1	UPI0000126D20	0	getma.org/pdb.php?prot=CO7A1_HUMAN&from=687&to=765&var=R708M	ENST00000328333		ENSG00000114270	2214		31	0.895		HGNC	p.R708M		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48627079,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/M		A	low	2231/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=687&re=765&var=R708M					YES	COL7A1,missense_variant,p.Arg708Met,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Arg708Met,ENST00000454817,;							MODERATE	2123/8835	R708M	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
TNKS2	0	LGGM	GRCh37	10	93601936	93601936	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	22	3	.	.	ENST00000371627.4:c.1847C>A	p.Ala616Glu	p.A616E	ENST00000371627	NM_025235.3	616	gCa/gAa	0	1	1	UPI00000362BE	0	getma.org/pdb.php?prot=TNKS2_HUMAN&from=563&to=674&var=A616E	ENST00000371627		ENSG00000107854	15677		25	3.425		HGNC	p.A616E		TNKS2		SNV							ENST00000371627	protein_coding	getma.org/?cm=var&var=hg19,10,93601936,C,A&fts=all		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24180,hmmpanther:PTHR24180:SF11,Gene3D:1.25.40.20,Pfam_domain:PF13637,SMART_domains:SM00248,Superfamily_domains:SSF48403		A/E		A	medium	2226/6157		getma.org/?cm=msa&ty=f&p=TNKS2_HUMAN&rb=563&re=674&var=A616E	deleterious(0)				YES	TNKS2,missense_variant,p.Ala616Glu,ENST00000371627,NM_025235.3;							MODERATE	1847/3501	A616E	TNKS2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360689		CCDS7417.1			1	
ZNF233	0	LGGM	GRCh37	19	44771056	44771056	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	47	3	.	.	ENST00000391958.2:c.180G>T	p.Leu60Phe	p.L60F	ENST00000391958	NM_181756.2	60	ttG/ttT	0	1	1	UPI000049DEBE	0	NA	ENST00000391958		ENSG00000159915	30946		50	1.845		HGNC	p.L60F		ZNF233		SNV							ENST00000592581	protein_coding	getma.org/?cm=var&var=hg19,19,44771056,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF42,SMART_domains:SM00349,Superfamily_domains:0044637		L/F		T	low	307/2784		getma.org/?cm=msa&ty=f&p=ZN233_HUMAN&rb=8&re=79&var=L60F	deleterious(0)	K7EN46_HUMAN			YES	ZNF233,missense_variant,p.Leu60Phe,ENST00000592581,NM_001207005.1;ZNF233,missense_variant,p.Leu60Phe,ENST00000391958,NM_181756.2;ZNF233,missense_variant,p.Gly178Trp,ENST00000334152,;ZNF233,missense_variant,p.Leu60Phe,ENST00000589522,;ZNF233,missense_variant,p.Leu60Phe,ENST00000590668,;ZNF235,intron_variant,,ENST00000589799,;ZNF233,downstream_gene_variant,,ENST00000588489,;ZNF235,intron_variant,,ENST00000592844,;							MODERATE	180/2013	L60F	ZN233_HUMAN			Transcript		benign(0.341)	.	ENSP00000375820		CCDS33047.1			1	
MLLT4	0	LGGM	GRCh37	6	168349014	168349014	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	30	3	.	.	ENST00000392108.3:c.3666C>A	p.Pro1222=	p.P1222=	ENST00000392108	NM_001040000.2	1222	ccC/ccA	0	1		UPI000047089C	0		ENST00000447894		ENSG00000130396	7137		33			HGNC	p.P1222P		MLLT4		SNV							ENST00000447894	protein_coding			hmmpanther:PTHR10398		P		A		3666/5475								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,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,;							LOW	3666/5475		AFAD_HUMAN			Transcript			.	ENSP00000404595					1	
ITIH5	0	LGGM	GRCh37	10	7621948	7621948	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	13	3	.	.	ENST00000256861.6:c.1188G>T	p.Arg396=	p.R396=	ENST00000256861	NM_030569.6	396	cgG/cgT	0	1	1	UPI00001F8AF3	0		ENST00000256861		ENSG00000123243	21449		16			HGNC	p.R396R	COSM1297438,COSM1297439	ITIH5		SNV						1,1	ENST00000397146	protein_coding			PROSITE_profiles:PS50234,hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		R		A		1267/6722							YES	ITIH5,synonymous_variant,p.=,ENST00000256861,NM_030569.6;ITIH5,synonymous_variant,p.=,ENST00000397145,NM_001001851.2;ITIH5,synonymous_variant,p.=,ENST00000446830,;ITIH5,synonymous_variant,p.=,ENST00000298441,NM_032817.5;ITIH5,synonymous_variant,p.=,ENST00000397146,;ITIH5,non_coding_transcript_exon_variant,,ENST00000434980,;ITIH5,upstream_gene_variant,,ENST00000492668,;ITIH5,3_prime_UTR_variant,,ENST00000461751,;ITIH5,non_coding_transcript_exon_variant,,ENST00000476417,;ITIH5,upstream_gene_variant,,ENST00000468389,;					1,1		LOW	1188/2871		ITIH5_HUMAN			Transcript			.	ENSP00000256861					1	
UNC5C	0	LGGM	GRCh37	4	96163581	96163581	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	19	3	.	.	ENST00000453304.1:c.1107G>T	p.Gln369His	p.Q369H	ENST00000453304	NM_003728.3	369	caG/caT	0	1	1	UPI000004E6A5	0	NA	ENST00000453304		ENSG00000182168	12569		22	1.59		HGNC	p.Q369H		UNC5C		SNV							ENST00000506749	protein_coding	getma.org/?cm=var&var=hg19,4,96163581,C,A&fts=all		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF7		Q/H		A	low	1456/9875		getma.org/?cm=msa&ty=f&p=UNC5C_HUMAN&rb=368&re=527&var=Q369H	tolerated(0.34)	Q4W5H4_HUMAN			YES	UNC5C,missense_variant,p.Gln369His,ENST00000453304,NM_003728.3;UNC5C,missense_variant,p.Gln369His,ENST00000513796,;UNC5C,missense_variant,p.Gln369His,ENST00000506749,;							MODERATE	1107/2796	Q369H	UNC5C_HUMAN			Transcript		benign(0.033)	.	ENSP00000406022		CCDS3643.1			1	
WWP2	0	LGGM	GRCh37	16	69965741	69965741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	29	3	.	.	ENST00000359154.2:c.1630C>A	p.Leu544Ile	p.L544I	ENST00000359154	NM_001270454.1	544	Ctc/Atc	0	1	1	UPI000006CD16	0	getma.org/pdb.php?prot=WWP2_HUMAN&from=536&to=870&var=L544I	ENST00000359154		ENSG00000198373	16804		32	2.395		HGNC	p.L428I		WWP2		SNV							ENST00000542271	protein_coding	getma.org/?cm=var&var=hg19,16,69965741,C,A&fts=all		PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF287,SMART_domains:SM00119,Superfamily_domains:SSF56204		L/I		A	medium	1731/4515		getma.org/?cm=msa&ty=f&p=WWP2_HUMAN&rb=536&re=870&var=L544I	deleterious(0)	H3BRX8_HUMAN,H3BPJ8_HUMAN,B4DHF6_HUMAN			YES	WWP2,missense_variant,p.Leu544Ile,ENST00000359154,NM_001270454.1,NM_007014.4;WWP2,missense_variant,p.Leu544Ile,ENST00000448661,;WWP2,missense_variant,p.Leu544Ile,ENST00000356003,;WWP2,missense_variant,p.Leu105Ile,ENST00000568684,NM_199424.2;WWP2,missense_variant,p.Leu428Ile,ENST00000542271,NM_001270453.1;MIR140,upstream_gene_variant,,ENST00000385282,;WWP2,non_coding_transcript_exon_variant,,ENST00000544162,;WWP2,non_coding_transcript_exon_variant,,ENST00000569297,;WWP2,downstream_gene_variant,,ENST00000567579,;WWP2,non_coding_transcript_exon_variant,,ENST00000566463,;WWP2,non_coding_transcript_exon_variant,,ENST00000568818,;WWP2,upstream_gene_variant,,ENST00000567161,;							MODERATE	1630/2613	L544I	WWP2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000352069		CCDS10885.1			1	
RAD54B	0	LGGM	GRCh37	8	95392428	95392428	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	3	.	.	ENST00000336148.5:c.2192G>T	p.Gly731Val	p.G731V	ENST00000336148	NM_012415.3	731	gGa/gTa	0	1	1	UPI0000070088	0	getma.org/pdb.php?prot=RA54B_HUMAN&from=678&to=758&var=G731V	ENST00000336148		ENSG00000197275	17228		44	3.1		HGNC	p.G731V		RAD54B		SNV							ENST00000336148	protein_coding	getma.org/?cm=var&var=hg19,8,95392428,C,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00490,Pfam_domain:PF00271,Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568,PROSITE_profiles:PS51194		G/V		A	medium	2317/3068		getma.org/?cm=msa&ty=f&p=RA54B_HUMAN&rb=678&re=758&var=G731V	deleterious(0)	E5RHN9_HUMAN			YES	RAD54B,missense_variant,p.Gly731Val,ENST00000336148,NM_012415.3;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,downstream_gene_variant,,ENST00000518358,;							MODERATE	2192/2733	G731V	RA54B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000336606		CCDS6262.1			1	
SDK1	0	LGGM	GRCh37	7	4185457	4185457	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	18	3	.	.	ENST00000404826.2:c.4332G>T	p.Pro1444=	p.P1444=	ENST00000404826	NM_152744.3	1444	ccG/ccT	0	1	1	UPI0000DBEEC4	0		ENST00000404826		ENSG00000146555	19307		21			HGNC	p.P1444P	rs147404205	SDK1	0.00121	SNV	A:0.0018						ENST00000389531	protein_coding		A:0	Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00060,Superfamily_domains:SSF49265		P	A:0.0058	T		4471/10397					A:0.0014	A:0	YES	SDK1,synonymous_variant,p.=,ENST00000404826,NM_152744.3;SDK1,synonymous_variant,p.=,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;		A:0.0008					LOW	4332/6642		SDK1_HUMAN		A:0.003	Transcript			common_variant	ENSP00000385899	0.000165	CCDS34590.1		A:0	1	
NGDN	0	LGGM	GRCh37	14	23946712	23946712	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	29	3	.	.	ENST00000408901.3:c.871G>T	p.Asp291Tyr	p.D291Y	ENST00000408901	NM_015514.1	291	Gat/Tat	0	1	1	UPI000006F7A0	0	NA	ENST00000408901		ENSG00000129460	20271		32	0		HGNC	p.D291Y		NGDN		SNV							ENST00000408901	protein_coding	getma.org/?cm=var&var=hg19,14,23946712,G,T&fts=all		hmmpanther:PTHR13237		D/Y		T	neutral	899/1143		getma.org/?cm=msa&ty=f&p=NGDN_HUMAN&rb=99&re=298&var=D291Y	deleterious(0)	G3V601_HUMAN,G3V4G1_HUMAN			YES	NGDN,missense_variant,p.Asp291Tyr,ENST00000397154,;NGDN,missense_variant,p.Asp291Tyr,ENST00000408901,NM_015514.1,NM_001042635.1;NGDN,missense_variant,p.Asp239Tyr,ENST00000556483,;NGDN,missense_variant,p.Asp49Tyr,ENST00000556699,;NGDN,missense_variant,p.Asp47Tyr,ENST00000556580,;NGDN,downstream_gene_variant,,ENST00000555128,;NGDN,splice_region_variant,,ENST00000553439,;NGDN,splice_region_variant,,ENST00000556022,;NGDN,non_coding_transcript_exon_variant,,ENST00000556103,;NGDN,downstream_gene_variant,,ENST00000553336,;							MODERATE	871/948	D291Y	NGDN_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000386134		CCDS41926.1			1	
INSRR	0	LGGM	GRCh37	1	156816453	156816453	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	20	3	.	.	ENST00000368195.3:c.1668G>A	p.Gln556=	p.Q556=	ENST00000368195	NM_014215.2	556	caG/caA	0	1	1	UPI000012D8BD	0		ENST00000368195		ENSG00000027644	6093		23			HGNC	p.Q556Q		INSRR		SNV							ENST00000368195	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF107,Gene3D:2.60.40.10,SMART_domains:SM00060,PIRSF_domain:PIRSF000620,Superfamily_domains:SSF49265		Q		T		2065/5101				I6U4P1_HUMAN			YES	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,;							LOW	1668/3894		INSRR_HUMAN			Transcript			.	ENSP00000357178		CCDS1160.1			1	
KPNA7	0	LGGM	GRCh37	7	98800741	98800741	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	3	.	.	ENST00000327442.6:c.189C>A	p.Ala63=	p.A63=	ENST00000327442	NM_001145715.1	63	gcC/gcA	0	1	1	UPI00004193B5	0		ENST00000327442		ENSG00000185467	21839		44			HGNC	p.A63A		KPNA7		SNV			1				ENST00000327442	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF01749,PIRSF_domain:PIRSF005673,hmmpanther:PTHR23316,hmmpanther:PTHR23316:SF11,Superfamily_domains:SSF48371		A		T		229/1725							YES	KPNA7,synonymous_variant,p.=,ENST00000327442,NM_001145715.1;							LOW	189/1551		IMA8_HUMAN			Transcript			.	ENSP00000330878		CCDS47651.1			1	
TMIE	0	LGGM	GRCh37	3	46747292	46747292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	31	3	.	.	ENST00000326431.3:c.106C>A	p.Pro36Thr	p.P36T	ENST00000326431	NM_147196.2	36	Cca/Aca	0	1	1	UPI0000141917	0	NA	ENST00000326431		ENSG00000181585	30800		34	1.355		HGNC	p.P36T		TMIE		SNV			1				ENST00000326431	protein_coding	getma.org/?cm=var&var=hg19,3,46747292,C,A&fts=all		Low_complexity_(Seg):seg		P/T		A	low	261/1824		getma.org/?cm=msa&ty=f&p=TMIE_HUMAN&rb=1&re=155&var=P36T	deleterious(0.04)				YES	TMIE,missense_variant,p.Pro36Thr,ENST00000326431,NM_147196.2;							MODERATE	106/471	P36T	TMIE_HUMAN			Transcript		benign(0.015)	.	ENSP00000324775		CCDS43081.1			1	
IGF2R	0	LGGM	GRCh37	6	160481728	160481728	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	46	3	.	.	ENST00000356956.1:c.3241C>A	p.Pro1081Thr	p.P1081T	ENST00000356956	NM_000876.2	1081	Cca/Aca	0	1	1	UPI0000072478	0	getma.org/pdb.php?prot=MPRI_HUMAN&from=1031&to=1178&var=P1081T	ENST00000356956		ENSG00000197081	5467		49	2.175		HGNC	p.P1081T		IGF2R		SNV							ENST00000356956	protein_coding	getma.org/?cm=var&var=hg19,6,160481728,C,A&fts=all		hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911		P/T		A	medium	3389/9091		getma.org/?cm=msa&ty=f&p=MPRI_HUMAN&rb=1031&re=1178&var=P1081T	tolerated(0.08)	A0N9R7_HUMAN,A0N9R6_HUMAN			YES	IGF2R,missense_variant,p.Pro1081Thr,ENST00000356956,NM_000876.2;							MODERATE	3241/7476	P1081T	MPRI_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000349437		CCDS5273.1			1	
TRHDE	0	LGGM	GRCh37	12	73014938	73014938	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	45	3	.	.	ENST00000261180.4:c.2385G>T	p.Pro795=	p.P795=	ENST00000261180	NM_013381.2	795	ccG/ccT	0	1	1	UPI0000136D52	0		ENST00000261180		ENSG00000072657	30748		48			HGNC	p.P795P		TRHDE		SNV							ENST00000261180	protein_coding			Pfam_domain:PF11838,hmmpanther:PTHR11533,hmmpanther:PTHR11533:SF40		P		T		2481/5618							YES	TRHDE,synonymous_variant,p.=,ENST00000261180,NM_013381.2;TRHDE,downstream_gene_variant,,ENST00000549138,;TRHDE,non_coding_transcript_exon_variant,,ENST00000549922,;							LOW	2385/3075		TRHDE_HUMAN			Transcript			.	ENSP00000261180		CCDS9004.1			1	
DLD	0	LGGM	GRCh37	7	107542254	107542254	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	40	3	.	.	ENST00000205402.5:c.190G>T	p.Gly64Cys	p.G64C	ENST00000205402	NM_000108.3	64	Ggc/Tgc	0	1	1	UPI0000072725	0	getma.org/pdb.php?prot=DLDH_HUMAN&from=43&to=361&var=G64C	ENST00000205402		ENSG00000091140	2898		43	4.625		HGNC	p.G64C		DLD		SNV			1				ENST00000450038	protein_coding	getma.org/?cm=var&var=hg19,7,107542254,G,T&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF07992,Prints_domain:PR00411,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF20,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01350		G/C		T	high	471/3755		getma.org/?cm=msa&ty=f&p=DLDH_HUMAN&rb=43&re=361&var=G64C	deleterious(0)	B4DHG0_HUMAN			YES	DLD,missense_variant,p.Gly64Cys,ENST00000205402,NM_000108.3;DLD,missense_variant,p.Gly64Cys,ENST00000440410,;DLD,missense_variant,p.Gly64Cys,ENST00000437604,;DLD,intron_variant,,ENST00000537148,;DLD,non_coding_transcript_exon_variant,,ENST00000494441,;DLD,non_coding_transcript_exon_variant,,ENST00000453354,;DLD,missense_variant,p.Gly64Cys,ENST00000417551,;DLD,missense_variant,p.Gly64Cys,ENST00000451081,;DLD,missense_variant,p.Gly64Cys,ENST00000450038,;DLD,non_coding_transcript_exon_variant,,ENST00000460577,;DLD,intron_variant,,ENST00000415325,;DLD,upstream_gene_variant,,ENST00000489184,;DLD,upstream_gene_variant,,ENST00000478414,;							MODERATE	190/1530	G64C	DLDH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000205402		CCDS5749.1			1	
NYAP2	0	LGGM	GRCh37	2	226447386	226447386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	3	3	.	.	ENST00000272907.6:c.1253C>T	p.Ser418Phe	p.S418F	ENST00000272907	NM_020864.1	418	tCt/tTt	0	1	1	UPI00001C1DB6	0	NA	ENST00000272907		ENSG00000144460	29291		6	1.445		HGNC	p.S418F		NYAP2		SNV							ENST00000272907	protein_coding	getma.org/?cm=var&var=hg19,2,226447386,C,T&fts=all		Pfam_domain:PF15439,hmmpanther:PTHR22633,Low_complexity_(Seg):seg		S/F		T	low	1666/4828		getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=401&re=600&var=S418F	deleterious(0.03)				YES	NYAP2,missense_variant,p.Ser418Phe,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;							MODERATE	1253/1962	S418F	NYAP2_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000272907		CCDS46529.1			1	
RGS3	0	LGGM	GRCh37	9	116259621	116259621	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	13	3	.	.	ENST00000374140.2:c.778G>T	p.Gly260Trp	p.G260W	ENST00000374140	NM_144488.5	260	Ggg/Tgg	0	1		UPI00001C0F58	0	getma.org/pdb.php?prot=RGS3_HUMAN&from=240&to=297&var=G260W	ENST00000350696		ENSG00000138835	9999		16	1.935		HGNC	p.G260W		RGS3		SNV							ENST00000374140	protein_coding	getma.org/?cm=var&var=hg19,9,116259621,G,T&fts=all		Gene3D:2.60.40.150,Superfamily_domains:SSF49562		G/W		T	medium	795/4398		getma.org/?cm=msa&ty=f&p=RGS3_HUMAN&rb=240&re=297&var=G260W	deleterious(0)	H7BXY1_HUMAN,C9J6G2_HUMAN				RGS3,missense_variant,p.Gly260Trp,ENST00000374140,NM_144488.5,NM_001282923.1;RGS3,missense_variant,p.Gly260Trp,ENST00000350696,;RGS3,missense_variant,p.Gly148Trp,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,;							MODERATE	778/3597	G260W	RGS3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000259406		CCDS43869.1			1	
CDC20	0	LGGM	GRCh37	1	43824907	43824907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	43	3	.	.	ENST00000372462.1:c.21G>T	p.Glu7Asp	p.E7D	ENST00000372462		7	gaG/gaT	0	1		UPI0000072C04	0	NA	ENST00000310955		ENSG00000117399	1723		46	1.01		HGNC	p.E7D		CDC20		SNV							ENST00000372462	protein_coding	getma.org/?cm=var&var=hg19,1,43824907,G,T&fts=all		hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF3		E/D		T	low	122/1675		getma.org/?cm=msa&ty=f&p=CDC20_HUMAN&rb=1&re=108&var=E7D	tolerated(0.31)					CDC20,missense_variant,p.Glu7Asp,ENST00000372462,;CDC20,missense_variant,p.Glu7Asp,ENST00000310955,NM_001255.2;ELOVL1,downstream_gene_variant,,ENST00000372458,NM_001256402.1,NM_022821.3,NM_001256399.1;ELOVL1,downstream_gene_variant,,ENST00000413844,NM_001256401.1;RP1-92O14.3,upstream_gene_variant,,ENST00000424948,;ELOVL1,downstream_gene_variant,,ENST00000470769,;ELOVL1,downstream_gene_variant,,ENST00000464204,;ELOVL1,downstream_gene_variant,,ENST00000482302,;ELOVL1,downstream_gene_variant,,ENST00000497050,;ELOVL1,downstream_gene_variant,,ENST00000470968,;ELOVL1,downstream_gene_variant,,ENST00000497569,;ELOVL1,downstream_gene_variant,,ENST00000487209,;ELOVL1,downstream_gene_variant,,ENST00000468865,;CDC20,upstream_gene_variant,,ENST00000478882,;CDC20,upstream_gene_variant,,ENST00000482046,;							MODERATE	21/1500	E7D	CDC20_HUMAN			Transcript		benign(0.003)	.	ENSP00000308450		CCDS484.1			1	
CELSR2	0	LGGM	GRCh37	1	109804921	109804921	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	12	3	.	.	ENST00000271332.3:c.4399C>A	p.Gln1467Lys	p.Q1467K	ENST00000271332	NM_001408.2	1467	Cag/Aag	0	1	1	UPI00000015B6	0	getma.org/pdb.php?prot=CELR2_HUMAN&from=1395&to=1554&var=Q1467K	ENST00000271332		ENSG00000143126	3231		15	1.1		HGNC	p.Q1467K		CELSR2		SNV							ENST00000271332	protein_coding	getma.org/?cm=var&var=hg19,1,109804921,C,A&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF32,SMART_domains:SM00282,Superfamily_domains:SSF49899		Q/K		A	low	4460/10534		getma.org/?cm=msa&ty=f&p=CELR2_HUMAN&rb=1395&re=1554&var=Q1467K	tolerated(0.33)				YES	CELSR2,missense_variant,p.Gln1467Lys,ENST00000271332,NM_001408.2;CELSR2,upstream_gene_variant,,ENST00000459940,;							MODERATE	4399/8772	Q1467K	CELR2_HUMAN			Transcript		benign(0.006)	.	ENSP00000271332		CCDS796.1			1	
STX17	0	LGGM	GRCh37	9	102730791	102730791	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	30	3	.	.	ENST00000259400.6:c.745C>A	p.Leu249Ile	p.L249I	ENST00000259400	NM_017919.2	249	Ctc/Atc	0	1	1	UPI000013D04E	0	NA	ENST00000259400		ENSG00000136874	11432		33	2.195		HGNC	p.L249I	rs769836449	STX17		SNV							ENST00000534052	protein_coding	getma.org/?cm=var&var=hg19,9,102730791,C,A&fts=all		hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF81,Transmembrane_helices:TMhelix		L/I		A	medium	881/2708	1.51E-05	getma.org/?cm=msa&ty=f&p=STX17_HUMAN&rb=229&re=302&var=L249I	deleterious(0.04)	E9PJW1_HUMAN			YES	STX17,missense_variant,p.Leu249Ile,ENST00000259400,NM_017919.2;STX17,missense_variant,p.Leu249Ile,ENST00000525640,;STX17,missense_variant,p.Leu249Ile,ENST00000534052,;STX17,non_coding_transcript_exon_variant,,ENST00000525847,;STX17,3_prime_UTR_variant,,ENST00000524405,;STX17,3_prime_UTR_variant,,ENST00000529340,;STX17,non_coding_transcript_exon_variant,,ENST00000529385,;							MODERATE	745/909	L249I	STX17_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000259400	8.24E-06	CCDS6745.1			1	
NUP133	0	LGGM	GRCh37	1	229613363	229613363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	26	3	.	.	ENST00000261396.3:c.1737G>T	p.Trp579Cys	p.W579C	ENST00000261396	NM_018230.2	579	tgG/tgT	0	1	1	UPI000013D17A	0	NA	ENST00000261396		ENSG00000069248	18016		29	2.545		HGNC	p.W563C		NUP133		SNV							ENST00000537506	protein_coding	getma.org/?cm=var&var=hg19,1,229613363,C,A&fts=all		hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405		W/C		A	medium	1829/4169		getma.org/?cm=msa&ty=f&p=NU133_HUMAN&rb=473&re=591&var=W579C	deleterious(0)				YES	NUP133,missense_variant,p.Trp579Cys,ENST00000261396,NM_018230.2;NUP133,missense_variant,p.Trp563Cys,ENST00000537506,;							MODERATE	1737/3471	W579C	NU133_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000261396		CCDS1579.1			1	
CHSY3	0	LGGM	GRCh37	5	129520835	129520835	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	38	3	.	.	ENST00000305031.4:c.2000C>A	p.Ser667Tyr	p.S667Y	ENST00000305031	NM_175856.4	667	tCc/tAc	0	1	1	UPI0000251E08	0	NA	ENST00000305031		ENSG00000198108	24293		41	1.79		HGNC	p.S667Y		CHSY3		SNV							ENST00000305031	protein_coding	getma.org/?cm=var&var=hg19,5,129520835,C,A&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18		S/Y		A	low	2358/3850		getma.org/?cm=msa&ty=f&p=CHSS3_HUMAN&rb=328&re=864&var=S667Y	deleterious(0.04)	Q1JTV1_HUMAN			YES	CHSY3,missense_variant,p.Ser667Tyr,ENST00000305031,NM_175856.4;CHSY3,downstream_gene_variant,,ENST00000507545,;							MODERATE	2000/2649	S667Y	CHSS3_HUMAN			Transcript		possibly_damaging(0.793)	.	ENSP00000302629		CCDS34223.1			1	
CELF3	0	LGGM	GRCh37	1	151677567	151677567	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	14	3	.	.	ENST00000290583.4:c.1348C>A	p.Arg450Ser	p.R450S	ENST00000290583	NM_001172648.1	450	Cgc/Agc	0	1	1	UPI000013F059	0	getma.org/pdb.php?prot=CELF3_HUMAN&from=382&to=452&var=R450S	ENST00000290583		ENSG00000159409	11967		17	2.005		HGNC	p.R450S		CELF3		SNV							ENST00000290583	protein_coding	getma.org/?cm=var&var=hg19,1,151677567,G,T&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24622:SF169,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/S		T	medium	2142/3246		getma.org/?cm=msa&ty=f&p=CELF3_HUMAN&rb=382&re=452&var=R450S	deleterious(0)	Q8IZ97_HUMAN			YES	CELF3,missense_variant,p.Arg450Ser,ENST00000290583,NM_001172648.1,NM_007185.4;CELF3,missense_variant,p.Arg451Ser,ENST00000420342,;CELF3,missense_variant,p.Arg400Ser,ENST00000290585,NM_001172649.1;CELF3,missense_variant,p.Arg245Ser,ENST00000392706,;RP11-98D18.1,intron_variant,,ENST00000457548,;CELF3,non_coding_transcript_exon_variant,,ENST00000470688,;CELF3,downstream_gene_variant,,ENST00000478829,;CELF3,downstream_gene_variant,,ENST00000479893,;CELF3,downstream_gene_variant,,ENST00000419910,;							MODERATE	1348/1398	R450S	CELF3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000290583		CCDS1002.1			1	
DIP2B	0	LGGM	GRCh37	12	51108329	51108329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	36	3	.	.	ENST00000301180.5:c.2801G>T	p.Cys934Phe	p.C934F	ENST00000301180	NM_173602.2	934	tGc/tTc	0	1	1	UPI0000406CA1	0	NA	ENST00000301180		ENSG00000066084	29284		39	2.79		HGNC	p.C934F		DIP2B		SNV							ENST00000301180	protein_coding	getma.org/?cm=var&var=hg19,12,51108329,G,T&fts=all		hmmpanther:PTHR22754:SF22,hmmpanther:PTHR22754		C/F		T	medium	2835/8593		getma.org/?cm=msa&ty=f&p=DIP2B_HUMAN&rb=843&re=1021&var=C934F	deleterious(0.01)	Q96IB4_HUMAN			YES	DIP2B,missense_variant,p.Cys934Phe,ENST00000301180,NM_173602.2;DIP2B,3_prime_UTR_variant,,ENST00000546732,;							MODERATE	2801/4731	C934F	DIP2B_HUMAN			Transcript		benign(0.147)	.	ENSP00000301180		CCDS31799.1			1	
IFNL3	0	LGGM	GRCh37	19	39735523	39735523	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	34	3	.	.	ENST00000413851.2:c.85G>T	p.Gly29Trp	p.G29W	ENST00000413851	NM_172139.2	29	Ggg/Tgg	0	1	1	UPI0000161897	0	NA	ENST00000413851		ENSG00000197110	18365		37	1.04		HGNC	p.G29W		IFNL3		SNV			1				ENST00000413851	protein_coding	getma.org/?cm=var&var=hg19,19,39735523,C,A&fts=all		hmmpanther:PTHR31943,hmmpanther:PTHR31943:SF3		G/W		A	low	124/656		getma.org/?cm=msa&ty=f&p=IL28B_HUMAN&rb=15&re=194&var=G29W	tolerated(0.1)				YES	IFNL3,missense_variant,p.Gly29Trp,ENST00000413851,NM_172139.2;IFNL4,downstream_gene_variant,,ENST00000606380,NM_001276254.2;							MODERATE	85/591	G29W	IFNL3_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000409000		CCDS12530.1			1	
COX11	0	LGGM	GRCh37	17	53040254	53040254	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	3	.	.	ENST00000299335.3:c.671G>T	p.Arg224Met	p.R224M	ENST00000299335	NM_004375.3	224	aGg/aTg	0	1	1	UPI000013E580	0		ENST00000299335		ENSG00000166260	2261		44			HGNC	p.R224M		COX11		SNV							ENST00000299335	protein_coding			Superfamily_domains:0043679,Gene3D:1so9A00,HAMAP:MF_00155,Pfam_domain:PF04442,hmmpanther:PTHR21320,hmmpanther:PTHR21320:SF0		R/M		A		810/2497			deleterious(0.03)	B4DEY8_HUMAN			YES	COX11,missense_variant,p.Arg224Met,ENST00000299335,NM_004375.3;TOM1L1,downstream_gene_variant,,ENST00000575882,NM_005486.2;TOM1L1,downstream_gene_variant,,ENST00000445275,;TOM1L1,downstream_gene_variant,,ENST00000348161,;TOM1L1,downstream_gene_variant,,ENST00000540336,;TOM1L1,downstream_gene_variant,,ENST00000536554,;TOM1L1,downstream_gene_variant,,ENST00000572158,;COX11,downstream_gene_variant,,ENST00000571584,;TOM1L1,downstream_gene_variant,,ENST00000574318,;COX11,upstream_gene_variant,,ENST00000573912,;COX11,upstream_gene_variant,,ENST00000574989,;COX11,missense_variant,p.Arg224Met,ENST00000576370,;COX11,intron_variant,,ENST00000572558,NM_001162861.1,NM_001162862.1;COX11,intron_variant,,ENST00000574821,;TOM1L1,downstream_gene_variant,,ENST00000571319,;TOM1L1,downstream_gene_variant,,ENST00000574653,;							MODERATE	671/831		COX11_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000299335		CCDS11583.1			1	
CPA2	0	LGGM	GRCh37	7	129919443	129919443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	46	3	.	.	ENST00000222481.4:c.928C>A	p.Gln310Lys	p.Q310K	ENST00000222481	NM_001869.2	310	Cag/Aag	0	1	1	UPI00005A7711	0	getma.org/pdb.php?prot=CBPA2_HUMAN&from=129&to=406&var=Q310K	ENST00000222481		ENSG00000158516	2297		49	3.55		HGNC	p.Q310K		CPA2		SNV							ENST00000222481	protein_coding	getma.org/?cm=var&var=hg19,7,129919443,C,A&fts=all		hmmpanther:PTHR11705:SF50,hmmpanther:PTHR11705,PROSITE_patterns:PS00133,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187,Prints_domain:PR00765		Q/K		A	high	983/1366		getma.org/?cm=msa&ty=f&p=CBPA2_HUMAN&rb=129&re=406&var=Q310K	deleterious(0)				YES	CPA2,missense_variant,p.Gln310Lys,ENST00000222481,NM_001869.2;CPA2,downstream_gene_variant,,ENST00000487259,;CPA2,downstream_gene_variant,,ENST00000416698,;							MODERATE	928/1260	Q310K	CBPA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000222481		CCDS5817.2			1	
ANKRD23	0	LGGM	GRCh37	2	97506208	97506208	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	14	3	.	.	ENST00000318357.4:c.470G>T	p.Ser157Ile	p.S157I	ENST00000318357	NM_144994.7	157	aGc/aTc	0	1	1	UPI000000D7C6	0	getma.org/pdb.php?prot=ANR23_HUMAN&from=65&to=174&var=S157I	ENST00000318357		ENSG00000163126	24470		17	0.645		HGNC	p.S115I		ANKRD23		SNV							ENST00000331001	protein_coding	getma.org/?cm=var&var=hg19,2,97506208,C,A&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24154,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403,Prints_domain:PR01415		S/I		A	neutral	512/2597		getma.org/?cm=msa&ty=f&p=ANR23_HUMAN&rb=65&re=174&var=S157I	tolerated(0.48)				YES	ANKRD23,missense_variant,p.Ser157Ile,ENST00000318357,NM_144994.7;ANKRD23,missense_variant,p.Ser115Ile,ENST00000331001,;ANKRD23,missense_variant,p.Ser157Ile,ENST00000418232,;ANKRD23,non_coding_transcript_exon_variant,,ENST00000476975,;ANKRD23,non_coding_transcript_exon_variant,,ENST00000462692,;ANKRD39,3_prime_UTR_variant,,ENST00000443120,;ANKRD23,non_coding_transcript_exon_variant,,ENST00000482175,;							MODERATE	470/918	S157I	ANR23_HUMAN			Transcript		benign(0.418)	.	ENSP00000321679		CCDS2027.1			1	
RICTOR	0	LGGM	GRCh37	5	38942417	38942417	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	39	3	.	.	ENST00000357387.3:c.5116G>T	p.Ala1706Ser	p.A1706S	ENST00000357387	NM_152756.3	1706	Gct/Tct	0	1	1	UPI00003529F3	0	NA	ENST00000357387		ENSG00000164327	28611		42	0.55		HGNC	p.A1706S		RICTOR		SNV							ENST00000357387	protein_coding	getma.org/?cm=var&var=hg19,5,38942417,C,A&fts=all		hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298		A/S		A	neutral	5147/9543		getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=A1706S	tolerated_low_confidence(0.13)				YES	RICTOR,missense_variant,p.Ala1706Ser,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.Ala1730Ser,ENST00000296782,NM_001285439.1;RICTOR,3_prime_UTR_variant,,ENST00000511516,NM_001285440.1;RICTOR,non_coding_transcript_exon_variant,,ENST00000505927,;OSMR,intron_variant,,ENST00000509237,;OSMR,intron_variant,,ENST00000508882,;							MODERATE	5116/5127	A1706S	RICTR_HUMAN			Transcript		benign(0.124)	.	ENSP00000349959		CCDS34148.1			1	
MUC16	0	LGGM	GRCh37	19	8976366	8976366	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	42	3	.	.	ENST00000397910.4:c.42462C>T	p.Gly14154=	p.G14154=	ENST00000397910	NM_024690.2	14154	ggC/ggT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		45			HGNC	p.G795G		MUC16		SNV							ENST00000380951	protein_coding			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		G		A		42666/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;MUC16,synonymous_variant,p.=,ENST00000599436,;MUC16,synonymous_variant,p.=,ENST00000380951,;MUC16,intron_variant,,ENST00000596956,;MUC16,synonymous_variant,p.=,ENST00000601404,;MUC16,intron_variant,,ENST00000596768,;							LOW	42462/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
ZBTB21	0	LGGM	GRCh37	21	43413083	43413083	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	44	3	.	.	ENST00000310826.5:c.1122G>A	p.Gly374=	p.G374=	ENST00000310826	NM_001098402.1	374	ggG/ggA	0	1	1	UPI000013C34D	0		ENST00000310826		ENSG00000173276	13083		47			HGNC	p.G374G		ZBTB21		SNV							ENST00000398499	protein_coding			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF8		G		T		1306/7449				Q5KS07_HUMAN,E7EVF9_HUMAN			YES	ZBTB21,synonymous_variant,p.=,ENST00000310826,NM_001098402.1;ZBTB21,synonymous_variant,p.=,ENST00000398505,NM_001098403.1;ZBTB21,synonymous_variant,p.=,ENST00000398499,;ZBTB21,synonymous_variant,p.=,ENST00000398511,NM_020727.4;ZBTB21,downstream_gene_variant,,ENST00000425521,;ZBTB21,downstream_gene_variant,,ENST00000398497,;ZBTB21,downstream_gene_variant,,ENST00000449949,;ZBTB21,intron_variant,,ENST00000465968,;							LOW	1122/3201		ZBT21_HUMAN			Transcript			.	ENSP00000308759		CCDS13678.1			1	
CHID1	0	LGGM	GRCh37	11	883272	883272	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	3	.	.	ENST00000454838.2:c.910C>A	p.Arg304=	p.R304=	ENST00000454838	NM_001142676.1	304	Cga/Aga	0	1		UPI0000035DEF	0		ENST00000323578		ENSG00000177830	28474		44			HGNC	p.R279R		CHID1		SNV							ENST00000449825	protein_coding			hmmpanther:PTHR11177,Gene3D:3.20.20.80,Pfam_domain:PF00704,SMART_domains:SM00636,Superfamily_domains:SSF51445		R		T		1565/3374				H0YDL6_HUMAN,E9PRL3_HUMAN,E9PKF1_HUMAN,E9PJL0_HUMAN,E9PIP0_HUMAN,E9PI70_HUMAN				CHID1,synonymous_variant,p.=,ENST00000449825,NM_001142675.1;CHID1,synonymous_variant,p.=,ENST00000323578,NM_023947.3;CHID1,synonymous_variant,p.=,ENST00000454838,NM_001142676.1;CHID1,synonymous_variant,p.=,ENST00000323541,;CHID1,synonymous_variant,p.=,ENST00000336845,;CHID1,synonymous_variant,p.=,ENST00000436108,NM_001142674.1;CHID1,synonymous_variant,p.=,ENST00000528581,;CHID1,synonymous_variant,p.=,ENST00000429789,NM_001142677.1;CHID1,synonymous_variant,p.=,ENST00000531859,;CHID1,upstream_gene_variant,,ENST00000529539,;CHID1,non_coding_transcript_exon_variant,,ENST00000526714,;CHID1,non_coding_transcript_exon_variant,,ENST00000524832,;CHID1,non_coding_transcript_exon_variant,,ENST00000528534,;CHID1,synonymous_variant,p.=,ENST00000528521,;CHID1,non_coding_transcript_exon_variant,,ENST00000531010,;CHID1,upstream_gene_variant,,ENST00000534207,;CHID1,downstream_gene_variant,,ENST00000534254,;							LOW	835/1182		CHID1_HUMAN			Transcript			.	ENSP00000325055		CCDS7722.1			1	
FREM2	0	LGGM	GRCh37	13	39424210	39424210	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	29	3	.	.	ENST00000280481.7:c.6415G>T	p.Gly2139Cys	p.G2139C	ENST00000280481	NM_207361.4	2139	Ggc/Tgc	0	1	1	UPI00005520B9	0	getma.org/pdb.php?prot=FREM2_HUMAN&from=2116&to=2220&var=G2139C	ENST00000280481		ENSG00000150893	25396		32	0.81		HGNC	p.G2139C		FREM2		SNV			1				ENST00000280481	protein_coding	getma.org/?cm=var&var=hg19,13,39424210,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF19,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		G/C		T	low	6631/14876		getma.org/?cm=msa&ty=f&p=FREM2_HUMAN&rb=2116&re=2220&var=G2139C	tolerated(0.1)				YES	FREM2,missense_variant,p.Gly2139Cys,ENST00000280481,NM_207361.4;FREM2,non_coding_transcript_exon_variant,,ENST00000482551,;							MODERATE	6415/9510	G2139C	FREM2_HUMAN			Transcript		benign(0.034)	.	ENSP00000280481		CCDS31960.1			1	
ADAP2	0	LGGM	GRCh37	17	29261232	29261232	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	25	3	.	.	ENST00000330889.3:c.427G>A	p.Gly143Arg	p.G143R	ENST00000330889	NM_018404.2	143	Gga/Aga	0	1	1	UPI0000127487	0	getma.org/pdb.php?prot=ADAP2_HUMAN&from=134&to=232&var=G143R	ENST00000330889		ENSG00000184060	16487		28	3.33		HGNC	p.G143R		ADAP2		SNV							ENST00000330889	protein_coding	getma.org/?cm=var&var=hg19,17,29261232,G,A&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF196,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		G/R		A	medium	762/2934		getma.org/?cm=msa&ty=f&p=ADAP2_HUMAN&rb=134&re=232&var=G143R	deleterious(0.01)	K7ENT1_HUMAN,J3QRA6_HUMAN			YES	ADAP2,missense_variant,p.Gly143Arg,ENST00000330889,NM_018404.2;ADAP2,missense_variant,p.Gly149Arg,ENST00000580525,;ADAP2,missense_variant,p.Gly143Arg,ENST00000581285,;ADAP2,missense_variant,p.Gly21Arg,ENST00000581548,;ADAP2,3_prime_UTR_variant,,ENST00000585130,;ADAP2,3_prime_UTR_variant,,ENST00000580526,;							MODERATE	427/1146	G143R	ADAP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329468		CCDS11261.1			1	
TUBGCP6	0	LGGM	GRCh37	22	50659028	50659028	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	26	3	.	.	ENST00000248846.5:c.3760G>A	p.Glu1254Lys	p.E1254K	ENST00000248846		1254	Gag/Aag	0	1	1	UPI000013CC55	0	NA	ENST00000248846		ENSG00000128159	18127		29	0.55		HGNC	p.E1254K		TUBGCP6		SNV			1				ENST00000248846	protein_coding	getma.org/?cm=var&var=hg19,22,50659028,C,T&fts=all		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32		E/K		T	neutral	3865/5612		getma.org/?cm=msa&ty=f&p=GCP6_HUMAN&rb=355&re=1725&var=E1254K	tolerated(0.2)				YES	TUBGCP6,missense_variant,p.Glu1254Lys,ENST00000439308,NM_020461.3;TUBGCP6,missense_variant,p.Glu1254Lys,ENST00000248846,;SELO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,upstream_gene_variant,,ENST00000425018,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,intron_variant,,ENST00000498611,;							MODERATE	3760/5460	E1254K	GCP6_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000248846		CCDS14087.1			1	
PCSK5	0	LGGM	GRCh37	9	78790028	78790028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	39	3	.	.	ENST00000545128.1:c.1883G>T	p.Gly628Val	p.G628V	ENST00000545128	NM_001190482.1	628	gGc/gTc	0	1	1	UPI0001DAD817	0	getma.org/pdb.php?prot=PCSK5_HUMAN&from=596&to=795&var=G628V	ENST00000545128		ENSG00000099139	8747		42	0.055		HGNC	p.G628V		PCSK5		SNV							ENST00000376767	protein_coding	getma.org/?cm=var&var=hg19,9,78790028,G,T&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327		G/V		T	neutral	2421/9538		getma.org/?cm=msa&ty=f&p=PCSK5_HUMAN&rb=596&re=795&var=G628V	tolerated(0.53)	I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Gly628Val,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Gly628Val,ENST00000376752,NM_006200.3;PCSK5,missense_variant,p.Gly301Val,ENST00000424854,;PCSK5,missense_variant,p.Gly628Val,ENST00000376767,;							MODERATE	1883/5583	G628V	PCSK5_HUMAN			Transcript		benign(0.111)	.	ENSP00000446280		CCDS55320.1			1	
SZT2	0	LGGM	GRCh37	1	43906217	43906217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	45	3	.	.	ENST00000562955.1:c.7133C>A	p.Pro2378Gln	p.P2378Q	ENST00000562955	NM_015284.3	2378	cCa/cAa	0	1	1	UPI0001E24F46	0	NA	ENST00000562955		ENSG00000198198	29040		48	1.355		HGNC	p.P2378Q		SZT2		SNV			1				ENST00000562955	protein_coding	getma.org/?cm=var&var=hg19,1,43906217,C,A&fts=all		hmmpanther:PTHR14918,Low_complexity_(Seg):seg		P/Q		A	low	7133/12281		getma.org/?cm=msa&ty=f&p=SZT2_HUMAN&rb=1785&re=3430&var=P2435Q	deleterious(0.04)				YES	SZT2,missense_variant,p.Pro2378Gln,ENST00000562955,NM_015284.3;SZT2,missense_variant,p.Pro1536Gln,ENST00000372442,;SZT2,downstream_gene_variant,,ENST00000471177,;SZT2,upstream_gene_variant,,ENST00000460536,;SZT2,downstream_gene_variant,,ENST00000470897,;							MODERATE	7133/10128	P2435Q	SZT2_HUMAN			Transcript		benign(0.364)	.	ENSP00000457168		CCDS30694.2			1	
PCED1A	0	LGGM	GRCh37	20	2818881	2818881	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	35	3	.	.	ENST00000360652.2:c.838C>A	p.Pro280Thr	p.P280T	ENST00000360652	NM_022760.4	280	Cct/Act	0	1	1	UPI00001285EE	0	NA	ENST00000360652		ENSG00000132635	16212		38	0.69		HGNC	p.P280T		PCED1A		SNV							ENST00000360652	protein_coding	getma.org/?cm=var&var=hg19,20,2818881,G,T&fts=all		hmmpanther:PTHR14469,hmmpanther:PTHR14469:SF3		P/T		T	neutral	1341/2016		getma.org/?cm=msa&ty=f&p=F113A_HUMAN&rb=239&re=320&var=P280T	tolerated(0.63)				YES	PCED1A,missense_variant,p.Pro280Thr,ENST00000360652,NM_022760.4;PCED1A,missense_variant,p.Pro229Thr,ENST00000356872,NM_001271168.1;PCED1A,missense_variant,p.Pro280Thr,ENST00000439542,;PCED1A,missense_variant,p.Pro229Thr,ENST00000448755,;PCED1A,missense_variant,p.Pro45Thr,ENST00000474714,;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,intron_variant,,ENST00000487501,;							MODERATE	838/1365	P280T	PED1A_HUMAN			Transcript		benign(0.017)	.	ENSP00000353868		CCDS13035.1			1	
CUZD1	0	LGGM	GRCh37	10	124596462	124596462	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	42	3	.	.	ENST00000368904.1:c.702C>A	p.Pro234=	p.P234=	ENST00000368904		234	ccC/ccA	0	1	1	UPI000004C655	0		ENST00000368904		ENSG00000138161	17937		45			HGNC	p.P234P		CUZD1		SNV							ENST00000392790	protein_coding			Superfamily_domains:SSF49854,SMART_domains:SM00042,Gene3D:2.60.120.290,Pfam_domain:PF00431,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF608,PROSITE_profiles:PS01180		P		T		1652/2903							YES	CUZD1,synonymous_variant,p.=,ENST00000368904,;CUZD1,synonymous_variant,p.=,ENST00000545804,;CUZD1,synonymous_variant,p.=,ENST00000392790,NM_022034.5;CUZD1,3_prime_UTR_variant,,ENST00000368901,;CUZD1,non_coding_transcript_exon_variant,,ENST00000368899,;CUZD1,intron_variant,,ENST00000368900,;CUZD1,intron_variant,,ENST00000338948,;							LOW	702/1824		CUZD1_HUMAN			Transcript			.	ENSP00000357900		CCDS7631.1			1	
TDRD9	0	LGGM	GRCh37	14	104493240	104493240	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	30	3	.	.	ENST00000409874.4:c.3246C>A	p.Gly1082=	p.G1082=	ENST00000409874	NM_153046.2	1082	ggC/ggA	0	1	1	UPI0001642306	0		ENST00000409874		ENSG00000156414	20122		33			HGNC	p.G1082G		TDRD9		SNV							ENST00000339063	protein_coding					G		A		3294/4782							YES	TDRD9,synonymous_variant,p.=,ENST00000409874,NM_153046.2;TDRD9,synonymous_variant,p.=,ENST00000339063,;TDRD9,synonymous_variant,p.=,ENST00000557332,;							LOW	3246/4149		TDRD9_HUMAN			Transcript			.	ENSP00000387303		CCDS9987.2			1	
CNTNAP1	0	LGGM	GRCh37	17	40847668	40847668	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	47	3	.	.	ENST00000264638.4:c.3122C>A	p.Pro1041Gln	p.P1041Q	ENST00000264638	NM_003632.2	1041	cCg/cAg	0	1	1	UPI00001285F6	0	NA	ENST00000264638		ENSG00000108797	8011		50	0.55		HGNC	p.P1041Q		CNTNAP1		SNV			1				ENST00000264638	protein_coding	getma.org/?cm=var&var=hg19,17,40847668,C,A&fts=all		hmmpanther:PTHR10127:SF584,hmmpanther:PTHR10127		P/Q		A	neutral	3339/5276		getma.org/?cm=msa&ty=f&p=CNTP1_HUMAN&rb=940&re=1087&var=P1041Q	deleterious(0.03)				YES	CNTNAP1,missense_variant,p.Pro1041Gln,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,;							MODERATE	3122/4155	P1041Q	CNTP1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000264638		CCDS11436.1			1	
CLCA4	0	LGGM	GRCh37	1	87045786	87045786	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	37	3	.	.	ENST00000370563.3:c.2518C>A	p.His840Asn	p.H840N	ENST00000370563	NM_012128.3	840	Cac/Aac	0	1	1	UPI00000389E8	0	NA	ENST00000370563		ENSG00000016602	2018		40	1.1		HGNC	p.H840N	COSM1503994	CLCA4		SNV			1			1	ENST00000370563	protein_coding	getma.org/?cm=var&var=hg19,1,87045786,C,A&fts=all		hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,TIGRFAM_domain:TIGR00868		H/N		A	low	2560/3211		getma.org/?cm=msa&ty=f&p=CLCA4_HUMAN&rb=664&re=863&var=H840N	tolerated(0.43)	Q9NXP1_HUMAN			YES	CLCA4,missense_variant,p.His840Asn,ENST00000370563,NM_012128.3;RP4-651E10.4,intron_variant,,ENST00000456587,;					1		MODERATE	2518/2760	H840N	CLCA4_HUMAN			Transcript		benign(0.009)	.	ENSP00000359594		CCDS41355.1			1	
TRPV4	0	LGGM	GRCh37	12	110236429	110236429	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	20	3	.	.	ENST00000418703.2:c.1142G>T	p.Gly381Val	p.G381V	ENST00000418703	NM_001177431.1	381	gGc/gTc	0	1		UPI000003BB44	0	getma.org/pdb.php?prot=TRPV4_HUMAN&from=270&to=469&var=G381V	ENST00000261740		ENSG00000111199	18083		23	3.085		HGNC	p.G381V		TRPV4		SNV			1				ENST00000538125	protein_coding	getma.org/?cm=var&var=hg19,12,110236429,C,A&fts=all		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF4,SMART_domains:SM00248,Superfamily_domains:SSF48403,TIGRFAM_domain:TIGR00870		G/V		A	medium	1225/3233		getma.org/?cm=msa&ty=f&p=TRPV4_HUMAN&rb=270&re=469&var=G381V	deleterious(0)	F5H6Q4_HUMAN				TRPV4,missense_variant,p.Gly381Val,ENST00000418703,NM_001177431.1;TRPV4,missense_variant,p.Gly381Val,ENST00000261740,NM_021625.4;TRPV4,missense_variant,p.Gly334Val,ENST00000392719,;TRPV4,missense_variant,p.Gly381Val,ENST00000346520,;TRPV4,missense_variant,p.Gly347Val,ENST00000536838,;TRPV4,missense_variant,p.Gly334Val,ENST00000541794,NM_001177428.1;TRPV4,missense_variant,p.Gly381Val,ENST00000537083,NM_147204.2;TRPV4,missense_variant,p.Gly334Val,ENST00000544971,NM_001177433.1;TRPV4,missense_variant,p.Gly381Val,ENST00000538125,;							MODERATE	1142/2616	G381V	TRPV4_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000261740		CCDS9134.1			1	
LZTR1	0	LGGM	GRCh37	22	21350338	21350338	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	42	3	.	.	ENST00000215739.8:c.2156C>A	p.Ala719Asp	p.A719D	ENST00000215739	NM_006767.3	719	gCc/gAc	0	1	1	UPI000013C695	0	getma.org/pdb.php?prot=LZTR1_HUMAN&from=656&to=765&var=A719D	ENST00000215739		ENSG00000099949	6742		45	2.01		HGNC	p.A719D		LZTR1		SNV			1				ENST00000215739	protein_coding	getma.org/?cm=var&var=hg19,22,21350338,C,A&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		A/D		A	medium	2515/4572		getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=656&re=765&var=A719D	deleterious(0)	B2R8T5_HUMAN			YES	LZTR1,missense_variant,p.Ala719Asp,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Ala700Asp,ENST00000389355,;LZTR1,missense_variant,p.Ala19Asp,ENST00000415817,;THAP7,downstream_gene_variant,,ENST00000215742,NM_030573.2;THAP7,downstream_gene_variant,,ENST00000399133,NM_001008695.1;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,downstream_gene_variant,,ENST00000497716,;LZTR1,downstream_gene_variant,,ENST00000480895,;LZTR1,3_prime_UTR_variant,,ENST00000452988,;LZTR1,3_prime_UTR_variant,,ENST00000415354,;LZTR1,3_prime_UTR_variant,,ENST00000439171,;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,,ENST00000414985,;LZTR1,downstream_gene_variant,,ENST00000495142,;LZTR1,downstream_gene_variant,,ENST00000492480,;LZTR1,downstream_gene_variant,,ENST00000464807,;LZTR1,downstream_gene_variant,,ENST00000491432,;THAP7,downstream_gene_variant,,ENST00000488975,;LZTR1,downstream_gene_variant,,ENST00000461510,;							MODERATE	2156/2523	A719D	LZTR1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000215739		CCDS33606.1			1	
ADAMTS18	0	LGGM	GRCh37	16	77465196	77465196	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	39	3	.	.	ENST00000282849.5:c.491G>T	p.Gly164Val	p.G164V	ENST00000282849	NM_199355.2	164	gGc/gTc	0	1	1	UPI0000233610	0	NA	ENST00000282849		ENSG00000140873	17110		42	3.645		HGNC	p.G164V		ADAMTS18		SNV			1				ENST00000449265	protein_coding	getma.org/?cm=var&var=hg19,16,77465196,C,A&fts=all		Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF167		G/V		A	high	910/5913		getma.org/?cm=msa&ty=f&p=ATS18_HUMAN&rb=61&re=203&var=G164V	deleterious(0)				YES	ADAMTS18,missense_variant,p.Gly164Val,ENST00000282849,NM_199355.2;ADAMTS18,missense_variant,p.Gly97Val,ENST00000562345,;AC025284.1,downstream_gene_variant,,ENST00000401312,;RP11-449J10.1,upstream_gene_variant,,ENST00000564358,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567121,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000564369,;ADAMTS18,missense_variant,p.Gly164Val,ENST00000449265,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000569309,;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567914,;							MODERATE	491/3666	G164V	ATS18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000282849		CCDS10926.1			1	
MYH4	0	LGGM	GRCh37	17	10367798	10367798	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	43	3	.	.	ENST00000255381.2:c.639C>A	p.Gly213=	p.G213=	ENST00000255381	NM_017533.2	213	ggC/ggA	0	1	1	UPI000013CEAB	0		ENST00000255381		ENSG00000264424	7574		46			HGNC	p.G213G		MYH4		SNV							ENST00000255381	protein_coding			Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,SMART_domains:SM00242,Superfamily_domains:SSF52540		G		T		750/6016							YES	MYH4,synonymous_variant,p.=,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							LOW	639/5820		MYH4_HUMAN			Transcript			.	ENSP00000255381		CCDS11154.1			1	
GPR17	0	LGGM	GRCh37	2	128408951	128408951	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	35	3	.	.	ENST00000544369.1:c.726G>T	p.Leu242=	p.L242=	ENST00000544369	NM_001161415.1	242	ctG/ctT	0	1		UPI0000050432	0		ENST00000272644		ENSG00000144230	4471		38			HGNC	p.L242L		GPR17		SNV							ENST00000544369	protein_coding			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		L		T		800/2062				G4XH68_HUMAN,C9JWY5_HUMAN				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,;							LOW	726/1104		GPR17_HUMAN			Transcript			.	ENSP00000272644		CCDS2148.1			1	
C1orf21	0	LGGM	GRCh37	1	184446665	184446665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	46	3	.	.	ENST00000235307.6:c.22C>A	p.His8Asn	p.H8N	ENST00000235307	NM_030806.3	8	Cat/Aat	0	1	1	UPI0000071170	0	NA	ENST00000235307		ENSG00000116667	15494		49	0.345		HGNC	p.H8N		C1orf21		SNV							ENST00000235307	protein_coding	getma.org/?cm=var&var=hg19,1,184446665,C,A&fts=all		Pfam_domain:PF15389,hmmpanther:PTHR14974,hmmpanther:PTHR14974:SF2		H/N		A	neutral	457/10265		getma.org/?cm=msa&ty=f&p=CA021_HUMAN&rb=1&re=61&var=H8N	tolerated(0.12)				YES	C1orf21,missense_variant,p.His8Asn,ENST00000235307,NM_030806.3;							MODERATE	22/366	H8N	CA021_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000235307		CCDS1362.1			1	
GPR98	0	LGGM	GRCh37	5	89939663	89939663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	31	3	.	.	ENST00000405460.2:c.2597G>T	p.Arg866Leu	p.R866L	ENST00000405460	NM_032119.3	866	cGg/cTg	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		34	1.37		HGNC	p.R866L		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89939663,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		R/L		T	low	2693/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=838&re=992&var=R866L					YES	GPR98,missense_variant,p.Arg866Leu,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Arg455Leu,ENST00000504142,;GPR98,non_coding_transcript_exon_variant,,ENST00000512205,;							MODERATE	2597/18921	R866L	GPR98_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000384582		CCDS47246.1			1	
NCAPH2	0	LGGM	GRCh37	22	50956042	50956042	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	31	3	.	.	ENST00000299821.11:c.303G>T	p.Arg101Ser	p.R101S	ENST00000299821		101	agG/agT	0	1		UPI0000207A5C	0	NA	ENST00000420993		ENSG00000025770	25071		34	0.69		HGNC	p.R101S		NCAPH2		SNV							ENST00000299821	protein_coding	getma.org/?cm=var&var=hg19,22,50956042,G,T&fts=all		Pfam_domain:PF06278,hmmpanther:PTHR14324,hmmpanther:PTHR14324:SF3		R/S		T	neutral	425/2037		getma.org/?cm=msa&ty=f&p=CNDH2_HUMAN&rb=51&re=605&var=R101S	tolerated(0.06)					NCAPH2,missense_variant,p.Arg101Ser,ENST00000395701,;NCAPH2,missense_variant,p.Arg101Ser,ENST00000420993,NM_001185011.1,NM_152299.3;NCAPH2,missense_variant,p.Arg101Ser,ENST00000299821,;NCAPH2,missense_variant,p.Arg101Ser,ENST00000395698,NM_014551.4;NCAPH2,missense_variant,p.Arg67Ser,ENST00000523045,;NCAPH2,upstream_gene_variant,,ENST00000522304,;NCAPH2,upstream_gene_variant,,ENST00000520297,;NCAPH2,3_prime_UTR_variant,,ENST00000518394,;NCAPH2,3_prime_UTR_variant,,ENST00000418794,;NCAPH2,upstream_gene_variant,,ENST00000522048,;							MODERATE	303/1818	R101S	CNDH2_HUMAN			Transcript		benign(0.071)	.	ENSP00000410088		CCDS14094.2			1	
MCAM	0	LGGM	GRCh37	11	119181077	119181077	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	30	3	.	.	ENST00000264036.4:c.1893G>T	p.Lys631Asn	p.K631N	ENST00000264036	NM_006500.2	631	aaG/aaT	0	1	1	UPI000013D4A8	0	NA	ENST00000264036		ENSG00000076706	6934		33	1.15		HGNC	p.K631N		MCAM		SNV							ENST00000264036	protein_coding	getma.org/?cm=var&var=hg19,11,119181077,C,A&fts=all		hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF18		K/N		A	low	1908/3311		getma.org/?cm=msa&ty=f&p=MUC18_HUMAN&rb=504&re=646&var=K631N	deleterious(0)				YES	MCAM,missense_variant,p.Lys631Asn,ENST00000264036,NM_006500.2;MCAM,3_prime_UTR_variant,,ENST00000392814,;CBL,downstream_gene_variant,,ENST00000264033,NM_005188.3;MCAM,non_coding_transcript_exon_variant,,ENST00000528976,;MCAM,intron_variant,,ENST00000524940,;MCAM,downstream_gene_variant,,ENST00000530144,;MCAM,downstream_gene_variant,,ENST00000529295,;MCAM,downstream_gene_variant,,ENST00000526992,;MCAM,downstream_gene_variant,,ENST00000534522,;MCAM,downstream_gene_variant,,ENST00000525555,;MCAM,downstream_gene_variant,,ENST00000529257,;MCAM,downstream_gene_variant,,ENST00000529686,;MCAM,downstream_gene_variant,,ENST00000530706,;MCAM,downstream_gene_variant,,ENST00000528502,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,non_coding_transcript_exon_variant,,ENST00000528533,;MCAM,downstream_gene_variant,,ENST00000530937,;MCAM,downstream_gene_variant,,ENST00000530006,;MCAM,downstream_gene_variant,,ENST00000526190,;							MODERATE	1893/1941	K631N	MUC18_HUMAN			Transcript		possibly_damaging(0.735)	.	ENSP00000264036		CCDS31690.1			1	
HAND1	0	LGGM	GRCh37	5	153857062	153857062	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	43	3	.	.	ENST00000231121.2:c.507G>T	p.Ala169=	p.A169=	ENST00000231121	NM_004821.2	169	gcG/gcT	0	1	1	UPI000012C083	0		ENST00000231121		ENSG00000113196	4807		46			HGNC	p.A169A		HAND1		SNV							ENST00000231121	protein_coding			hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF3		A		A		763/1738							YES	HAND1,synonymous_variant,p.=,ENST00000231121,NM_004821.2;							LOW	507/648		HAND1_HUMAN			Transcript			.	ENSP00000231121		CCDS4327.1			1	
STOX2	0	LGGM	GRCh37	4	184932523	184932523	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	35	3	.	.	ENST00000308497.4:c.2532C>A	p.Leu844=	p.L844=	ENST00000308497	NM_020225.1	844	ctC/ctA	0	1	1	UPI00001C1E11	0		ENST00000308497		ENSG00000173320	25450		38			HGNC	p.L844L		STOX2		SNV							ENST00000438269	protein_coding			hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF2		L		A		3967/10458				D6RDA5_HUMAN			YES	STOX2,synonymous_variant,p.=,ENST00000308497,NM_020225.1;STOX2,synonymous_variant,p.=,ENST00000438269,;STOX2,intron_variant,,ENST00000513034,;STOX2,downstream_gene_variant,,ENST00000512520,;STOX2,synonymous_variant,p.=,ENST00000506529,;							LOW	2532/2781		STOX2_HUMAN			Transcript			.	ENSP00000311257		CCDS47167.1			1	
ARHGEF28	0	LGGM	GRCh37	5	73160651	73160651	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	47	3	.	.	ENST00000545377.1:c.2057C>A	p.Ala686Glu	p.A686E	ENST00000545377	NM_001080479.2	686	gCa/gAa	0	1		UPI0001AE73FF	0	getma.org/pdb.php?prot=RGNEF_HUMAN&from=653&to=702&var=A686E	ENST00000426542		ENSG00000214944	30322		50	2.36		HGNC	p.A686E		ARHGEF28		SNV							ENST00000437974	protein_coding	getma.org/?cm=var&var=hg19,5,73160651,C,A&fts=all		PROSITE_profiles:PS50081,hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,Pfam_domain:PF00130,SMART_domains:SM00109,Superfamily_domains:SSF57889		A/E		A	medium	2077/6118		getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=653&re=702&var=A686E	deleterious(0.01)	D6RAP0_HUMAN				ARHGEF28,missense_variant,p.Ala686Glu,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Ala686Glu,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Ala686Glu,ENST00000287898,;ARHGEF28,missense_variant,p.Ala686Glu,ENST00000426542,;ARHGEF28,missense_variant,p.Ala686Glu,ENST00000437974,;ARHGEF28,missense_variant,p.Ala686Glu,ENST00000296794,;ARHGEF28,missense_variant,p.Ala373Glu,ENST00000296799,NM_001244364.1;ARHGEF28,non_coding_transcript_exon_variant,,ENST00000506334,;							MODERATE	2057/5118	A686E	ARG28_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000412175		CCDS54870.1			1	
CTSK	0	LGGM	GRCh37	1	150779790	150779790	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	46	3	.	.	ENST00000271651.3:c.-1-508C>T		*1*	ENST00000271651	NM_000396.3			0	1	1	UPI0000000DFB	0		ENST00000271651		ENSG00000143387	2536		49			HGNC	p.H37H		CTSK		SNV			1				ENST00000443913	protein_coding							A		-/1692							YES	CTSK,synonymous_variant,p.=,ENST00000443913,;CTSK,intron_variant,,ENST00000271651,NM_000396.3;ARNT,downstream_gene_variant,,ENST00000358595,NM_178427.2,NM_001197325.1,NM_001668.3;ARNT,downstream_gene_variant,,ENST00000354396,NM_001286036.1;ARNT,downstream_gene_variant,,ENST00000515192,NM_001286035.1;ARNT,downstream_gene_variant,,ENST00000505755,;CTSK,upstream_gene_variant,,ENST00000480670,;ARNT,downstream_gene_variant,,ENST00000471844,;							MODIFIER	-/990		CATK_HUMAN			Transcript			.	ENSP00000271651		CCDS969.1			1	
BAZ2B	0	LGGM	GRCh37	2	160189136	160189136	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	32	3	.	.	ENST00000392783.2:c.5858A>G	p.Asp1953Gly	p.D1953G	ENST00000392783	NM_013450.2	1953	gAc/gGc	0	1	1	UPI0000D74C4A	0	getma.org/pdb.php?prot=BAZ2B_HUMAN&from=1933&to=1981&var=D1953G	ENST00000392783		ENSG00000123636	963		35	3.18		HGNC	p.D1919G		BAZ2B		SNV							ENST00000355831	protein_coding	getma.org/?cm=var&var=hg19,2,160189136,T,C&fts=all		Superfamily_domains:SSF57903,SMART_domains:SM00249,Gene3D:3.30.40.10,Pfam_domain:PF00628,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF144,PROSITE_profiles:PS50016,Low_complexity_(Seg):seg		D/G		C	medium	6354/8289		getma.org/?cm=msa&ty=f&p=BAZ2B_HUMAN&rb=1933&re=1981&var=D1953G		Q8NC87_HUMAN,Q53TG3_HUMAN,C9JCA6_HUMAN			YES	BAZ2B,missense_variant,p.Asp1953Gly,ENST00000392783,NM_013450.2;BAZ2B,missense_variant,p.Asp1917Gly,ENST00000392782,;BAZ2B,missense_variant,p.Asp1919Gly,ENST00000355831,;BAZ2B,missense_variant,p.Asp1853Gly,ENST00000343439,;BAZ2B,downstream_gene_variant,,ENST00000426648,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000474437,;BAZ2B,non_coding_transcript_exon_variant,,ENST00000548440,;							MODERATE	5858/6507	D1953G	BAZ2B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000376534		CCDS2209.2			1	
EPHB4	0	LGGM	GRCh37	7	100404142	100404142	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	34	3	.	.	ENST00000358173.3:c.2384G>T	p.Arg795Leu	p.R795L	ENST00000358173	NM_004444.4	795	cGg/cTg	0	1	1	UPI0000000DBB	0	getma.org/pdb.php?prot=EPHB4_HUMAN&from=615&to=874&var=R795L	ENST00000358173		ENSG00000196411	3395		37	1.8		HGNC	p.R795L		EPHB4		SNV							ENST00000358173	protein_coding	getma.org/?cm=var&var=hg19,7,100404142,C,A&fts=all		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		R/L		A	low	2853/4329		getma.org/?cm=msa&ty=f&p=EPHB4_HUMAN&rb=615&re=874&var=R795L	deleterious(0.01)	Q541P7_HUMAN			YES	EPHB4,missense_variant,p.Arg795Leu,ENST00000358173,NM_004444.4;EPHB4,missense_variant,p.Arg795Leu,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,;							MODERATE	2384/2964	R795L	EPHB4_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000350896		CCDS5706.1			1	
SLC34A1	0	LGGM	GRCh37	5	176824982	176824982	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	33	3	.	.	ENST00000324417.5:c.1615C>A	p.Gln539Lys	p.Q539K	ENST00000324417	NM_003052.4	539	Cag/Aag	0	1	1	UPI0000130408	0	NA	ENST00000324417		ENSG00000131183	11019		36	1.35		HGNC	p.Q539K		SLC34A1		SNV			1				ENST00000324417	protein_coding	getma.org/?cm=var&var=hg19,5,176824982,C,A&fts=all		Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR01013,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF21		Q/K		A	low	1706/2573		getma.org/?cm=msa&ty=f&p=NPT2A_HUMAN&rb=506&re=639&var=Q539K	tolerated(0.95)	Q05BP0_HUMAN,D6RCE5_HUMAN			YES	SLC34A1,missense_variant,p.Gln539Lys,ENST00000324417,NM_003052.4;F12,downstream_gene_variant,,ENST00000253496,NM_000505.3;PFN3,downstream_gene_variant,,ENST00000358571,NM_001029886.2;SLC34A1,non_coding_transcript_exon_variant,,ENST00000513614,;F12,downstream_gene_variant,,ENST00000514943,;SLC34A1,downstream_gene_variant,,ENST00000507685,;F12,downstream_gene_variant,,ENST00000510358,;F12,downstream_gene_variant,,ENST00000502854,;F12,downstream_gene_variant,,ENST00000504406,;							MODERATE	1615/1920	Q539K	NPT2A_HUMAN			Transcript		benign(0.002)	.	ENSP00000321424		CCDS4418.1			1	
HRH2	0	LGGM	GRCh37	5	175110946	175110946	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	19	3	.	.	ENST00000377291.2:c.710C>A	p.Ala237Asp	p.A237D	ENST00000377291	NM_001131055.1	237	gCc/gAc	0	1		UPI00000007CC	0	getma.org/pdb.php?prot=HRH2_HUMAN&from=35&to=288&var=A237D	ENST00000231683		ENSG00000113749	5183		22	3.8		HGNC	p.A237D	COSM368331	HRH2		SNV						1	ENST00000377291	protein_coding	getma.org/?cm=var&var=hg19,5,175110946,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/D		A	high	2483/3095		getma.org/?cm=msa&ty=f&p=HRH2_HUMAN&rb=35&re=288&var=A237D	deleterious(0)					HRH2,missense_variant,p.Ala237Asp,ENST00000231683,NM_022304.2;HRH2,missense_variant,p.Ala237Asp,ENST00000377291,NM_001131055.1;					1		MODERATE	710/1080	A237D	HRH2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000231683		CCDS4395.1			1	
AGRN	0	LGGM	GRCh37	1	981423	981423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	17	3	.	.	ENST00000379370.2:c.2760C>A	p.His920Gln	p.H920Q	ENST00000379370	NM_198576.3	920	caC/caA	0	1	1	UPI00001D7C8B	0	getma.org/pdb.php?prot=AGRIN_HUMAN&from=917&to=971&var=H920Q	ENST00000379370		ENSG00000188157	329		20	0.355		HGNC	p.H920Q		AGRN		SNV			1				ENST00000379370	protein_coding	getma.org/?cm=var&var=hg19,1,981423,C,A&fts=all		Superfamily_domains:SSF100895,SMART_domains:SM00181,SMART_domains:SM00274,SMART_domains:SM00057,Gene3D:3.30.60.30,hmmpanther:PTHR10574:SF227,hmmpanther:PTHR10574		H/Q		A	neutral	2810/7323		getma.org/?cm=msa&ty=f&p=AGRIN_HUMAN&rb=917&re=971&var=H920Q	tolerated(0.1)	Q5XG79_HUMAN			YES	AGRN,missense_variant,p.His920Gln,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,;							MODERATE	2760/6138	H920Q	AGRIN_HUMAN			Transcript		benign(0.227)	.	ENSP00000368678		CCDS30551.1			1	
PNISR	0	LGGM	GRCh37	6	99858804	99858804	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	25	3	.	.	ENST00000369239.5:c.314C>A	p.Pro105Gln	p.P105Q	ENST00000369239	NM_032870.2	105	cCa/cAa	0	1	1	UPI000013E3A2	0	NA	ENST00000369239		ENSG00000132424	21222		28	0.805		HGNC	p.P105Q		PNISR		SNV							ENST00000438806	protein_coding	getma.org/?cm=var&var=hg19,6,99858804,G,T&fts=all		hmmpanther:PTHR31518:SF2,hmmpanther:PTHR31518,Low_complexity_(Seg):seg		P/Q		T	low	519/5112		getma.org/?cm=msa&ty=f&p=PNISR_HUMAN&rb=1&re=200&var=P105Q	deleterious(0.04)	Q8TEZ9_HUMAN			YES	PNISR,missense_variant,p.Pro105Gln,ENST00000369239,NM_032870.2;PNISR,missense_variant,p.Pro105Gln,ENST00000438806,NM_015491.1;PNISR,non_coding_transcript_exon_variant,,ENST00000463021,;PNISR,downstream_gene_variant,,ENST00000466057,;PNISR,downstream_gene_variant,,ENST00000498075,;PNISR,downstream_gene_variant,,ENST00000492294,;PNISR,upstream_gene_variant,,ENST00000476159,;PNISR,missense_variant,p.Pro105Gln,ENST00000478777,;							MODERATE	314/2418	P105Q	PNISR_HUMAN			Transcript		benign(0.187)	.	ENSP00000358242		CCDS5043.1			1	
KCNS3	0	LGGM	GRCh37	2	18112824	18112824	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	36	3	.	.	ENST00000403915.1:c.549C>A	p.Ser183=	p.S183=	ENST00000403915	NM_001282428.1	183	tcC/tcA	0	1		UPI000013E93A	0		ENST00000304101		ENSG00000170745	6302		39			HGNC	p.S183S		KCNS3		SNV							ENST00000403915	protein_coding			Gene3D:1.20.120.350,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF39,Low_complexity_(Seg):seg		S		A		929/2333				C9J187_HUMAN				KCNS3,synonymous_variant,p.=,ENST00000403915,NM_001282428.1;KCNS3,synonymous_variant,p.=,ENST00000304101,NM_002252.3;KCNS3,downstream_gene_variant,,ENST00000419802,;KCNS3,intron_variant,,ENST00000465292,;							LOW	549/1476		KCNS3_HUMAN			Transcript			.	ENSP00000305824		CCDS1692.1			1	
KRT84	0	LGGM	GRCh37	12	52773692	52773692	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	12	4	.	.	ENST00000257951.3:c.1425-1G>A		p.X475_splice	ENST00000257951	NM_033045.3			0	1	1	UPI000013CFA1	0		ENST00000257951		ENSG00000161849	6461		16			HGNC	-		KRT84		SNV							ENST00000257951	protein_coding							T		-/2092							YES	KRT84,splice_acceptor_variant,,ENST00000257951,NM_033045.3;RP3-416H24.4,upstream_gene_variant,,ENST00000547174,;							HIGH	1425/1803		KRT84_HUMAN			Transcript			.	ENSP00000257951		CCDS8825.1			1	
ITIH4	0	LGGM	GRCh37	3	52857871	52857871	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	19	4	.	.	ENST00000266041.4:c.1321C>G	p.His441Asp	p.H441D	ENST00000266041	NM_002218.4	441	Cat/Gat	0	1	1	UPI000013D6C3	0	NA	ENST00000266041		ENSG00000055955	6169		23	0.895		HGNC	p.H441D		ITIH4		SNV							ENST00000346281	protein_coding	getma.org/?cm=var&var=hg19,3,52857871,G,C&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF98,SMART_domains:SM00327,Superfamily_domains:SSF53300		H/D		C	low	1418/3336		getma.org/?cm=msa&ty=f&p=ITIH4_HUMAN&rb=274&re=457&var=H441D	deleterious(0)				YES	ITIH4,missense_variant,p.His441Asp,ENST00000266041,NM_002218.4;ITIH4,missense_variant,p.His441Asp,ENST00000346281,NM_001166449.1;ITIH4,missense_variant,p.His441Asp,ENST00000485816,;ITIH4,missense_variant,p.His441Asp,ENST00000406595,;ITIH4,missense_variant,p.His299Asp,ENST00000441637,;ITIH4,missense_variant,p.His353Asp,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,;							MODERATE	1321/2793	H441D	ITIH4_HUMAN			Transcript		benign(0.334)	.	ENSP00000266041		CCDS2865.1			1	
PPY	0	LGGM	GRCh37	17	42018932	42018932	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	4	.	.	ENST00000591228.1:c.91C>T	p.Pro31Ser	p.P31S	ENST00000591228		31	Cca/Tca	0	1		UPI0000001C93	0		ENST00000225992		ENSG00000108849	9327		45			HGNC	p.P31S		PPY		SNV							ENST00000591228	protein_coding			Pfam_domain:PF00159,Prints_domain:PR00278,PROSITE_profiles:PS50276,hmmpanther:PTHR10533,hmmpanther:PTHR10533:SF2,Low_complexity_(Seg):seg,SMART_domains:SM00309		P/S		A		139/460			deleterious(0.02)					PPY,missense_variant,p.Pro31Ser,ENST00000591228,;PPY,missense_variant,p.Pro31Ser,ENST00000225992,NM_002722.3;PPY,missense_variant,p.Pro31Ser,ENST00000587006,;RP11-527L4.2,downstream_gene_variant,,ENST00000565120,;PPY,missense_variant,p.Pro31Ser,ENST00000591703,;PPY,upstream_gene_variant,,ENST00000587070,;PPY,upstream_gene_variant,,ENST00000587926,;							MODERATE	91/288		PAHO_HUMAN			Transcript		unknown(0)	.	ENSP00000225992		CCDS11472.1			1	
JAG1	0	LGGM	GRCh37	20	10639259	10639259	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	40	4	.	.	ENST00000254958.5:c.551G>T	p.Arg184Leu	p.R184L	ENST00000254958	NM_000214.2	184	cGc/cTc	0	1	1	UPI00000498B5	0	NA	ENST00000254958		ENSG00000101384	6188		44	3.705		HGNC	p.R184L		JAG1		SNV			1				ENST00000254958	protein_coding	getma.org/?cm=var&var=hg19,20,10639259,C,A&fts=all		Pfam_domain:PF01414,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF212,SMART_domains:SM00051		R/L		A	high	1067/5987		getma.org/?cm=msa&ty=f&p=JAG1_HUMAN&rb=167&re=229&var=R184L	deleterious(0)	B7U6M8_HUMAN,B4DYR1_HUMAN			YES	JAG1,missense_variant,p.Arg184Leu,ENST00000254958,NM_000214.2;JAG1,missense_variant,p.Arg25Leu,ENST00000423891,;							MODERATE	551/3657	R184L	JAG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000254958		CCDS13112.1			1	
PRRC2B	0	LGGM	GRCh37	9	134342992	134342992	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	45	4	.	.	ENST00000357304.4:c.1763C>A	p.Pro588Gln	p.P588Q	ENST00000357304	NM_013318.3	588	cCa/cAa	0	1	1	UPI00002374A3	0	NA	ENST00000357304		ENSG00000130723	28121		49	0.69		HGNC	p.P588Q		PRRC2B		SNV							ENST00000405995	protein_coding	getma.org/?cm=var&var=hg19,9,134342992,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		P/Q		A	neutral	1818/11042		getma.org/?cm=msa&ty=f&p=PRC2B_HUMAN&rb=395&re=594&var=P588Q	tolerated(0.25)	Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,missense_variant,p.Pro588Gln,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Pro588Gln,ENST00000405995,;PRRC2B,missense_variant,p.Pro588Gln,ENST00000458550,;PRRC2B,missense_variant,p.Pro128Gln,ENST00000422467,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;							MODERATE	1763/6690	P588Q	PRC2B_HUMAN			Transcript		benign(0.002)	.	ENSP00000349856		CCDS48044.1			1	
ASB9	0	LGGM	GRCh37	X	15266968	15266968	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	13	4	.	.	ENST00000380488.4:c.658G>T	p.Asp220Tyr	p.D220Y	ENST00000380488	NM_001031739.2	220	Gat/Tat	0	1	1	UPI00001260ED	0	getma.org/pdb.php?prot=ASB9_HUMAN&from=182&to=254&var=D220Y	ENST00000380488		ENSG00000102048	17184		17	3.075		HGNC	p.D210Y		ASB9		SNV							ENST00000380483	protein_coding	getma.org/?cm=var&var=hg19,X,15266968,C,A&fts=all		PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24136,hmmpanther:PTHR24136:SF0,Pfam_domain:PF00023,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		D/Y		A	medium	932/1678		getma.org/?cm=msa&ty=f&p=ASB9_HUMAN&rb=182&re=254&var=D220Y	deleterious(0)				YES	ASB9,missense_variant,p.Asp220Tyr,ENST00000546332,NM_001168531.1;ASB9,missense_variant,p.Asp220Tyr,ENST00000380488,NM_001031739.2;ASB9,missense_variant,p.Asp220Tyr,ENST00000380485,NM_024087.2;ASB9,missense_variant,p.Asp210Tyr,ENST00000380483,NM_001168530.1;ASB9,missense_variant,p.Asp136Tyr,ENST00000477346,;ASB9,non_coding_transcript_exon_variant,,ENST00000473862,;ASB9,downstream_gene_variant,,ENST00000470015,;ASB9,downstream_gene_variant,,ENST00000481384,;ASB9,downstream_gene_variant,,ENST00000484017,;							MODERATE	658/885	D220Y	ASB9_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000369855		CCDS35208.1			1	
PCDHGA3	0	LGGM	GRCh37	5	140724794	140724794	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	76	4	.	.	ENST00000253812.6:c.1194A>T	p.Ile398=	p.I398=	ENST00000253812	NM_018916.3	398	atA/atT	0	1	1	UPI0000161C1A	0		ENST00000253812		ENSG00000254245	8701		80			HGNC	p.I398I		PCDHGA3		SNV							ENST00000253812	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF75,SMART_domains:SM00112,Superfamily_domains:SSF49313		I		T		1194/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA3,synonymous_variant,p.=,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,;							LOW	1194/2799		PCDG3_HUMAN			Transcript			.	ENSP00000253812		CCDS47290.1			1	
OSBP2	0	LGGM	GRCh37	22	31091514	31091514	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	57	4	.	.	ENST00000332585.6:c.618G>T	p.Leu206=	p.L206=	ENST00000332585	NM_030758.3	206	ctG/ctT	0	1	1	UPI0000161E15	0		ENST00000332585		ENSG00000184792	8504		61			HGNC	p.L206L		OSBP2		SNV							ENST00000446658	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		L		T		722/4340				C9JS84_HUMAN,C9J7J0_HUMAN			YES	OSBP2,synonymous_variant,p.=,ENST00000332585,NM_030758.3;OSBP2,synonymous_variant,p.=,ENST00000382310,;OSBP2,synonymous_variant,p.=,ENST00000446658,NM_001282739.1;OSBP2,intron_variant,,ENST00000407373,;OSBP2,intron_variant,,ENST00000403222,NM_001282738.1;OSBP2,intron_variant,,ENST00000438716,;							LOW	618/2751		OSBP2_HUMAN			Transcript			.	ENSP00000332576		CCDS43002.1			1	
COL28A1	0	LGGM	GRCh37	7	7559698	7559698	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	17	4	.	.	ENST00000399429.3:c.808A>T	p.Asn270Tyr	p.N270Y	ENST00000399429	NM_001037763.2	270	Aac/Tac	0	1	1	UPI000155D64E	0	NA	ENST00000399429		ENSG00000215018	22442		21	1.905		HGNC	p.N3Y		COL28A1		SNV							ENST00000444268	protein_coding	getma.org/?cm=var&var=hg19,7,7559698,T,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF375,Pfam_domain:PF01391		N/Y		A	medium	949/4277		getma.org/?cm=msa&ty=f&p=COSA1_HUMAN&rb=241&re=305&var=N270Y	tolerated(0.05)	H7C3P2_HUMAN,H7BZU0_HUMAN			YES	COL28A1,missense_variant,p.Asn270Tyr,ENST00000399429,NM_001037763.2;COL28A1,missense_variant,p.Asn3Tyr,ENST00000444268,;							MODERATE	808/3378	N270Y	COSA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000382356		CCDS43553.1			1	
GZF1	0	LGGM	GRCh37	20	23345907	23345907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	38	4	.	.	ENST00000338121.5:c.887G>T	p.Gly296Val	p.G296V	ENST00000338121		296	gGg/gTg	0	1	1	UPI000013C35D	0	NA	ENST00000338121		ENSG00000125812	15808		42	0.805		HGNC	p.G296V		GZF1		SNV							ENST00000338121	protein_coding	getma.org/?cm=var&var=hg19,20,23345907,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF170,Low_complexity_(Seg):seg		G/V		T	low	964/4835		getma.org/?cm=msa&ty=f&p=GZF1_HUMAN&rb=134&re=316&var=G296V	tolerated(0.39)	Q5JXG1_HUMAN,F5H2R0_HUMAN,B4DF58_HUMAN			YES	GZF1,missense_variant,p.Gly296Val,ENST00000338121,;GZF1,missense_variant,p.Gly296Val,ENST00000377051,NM_022482.3;GZF1,intron_variant,,ENST00000544236,;GZF1,intron_variant,,ENST00000542987,;GZF1,downstream_gene_variant,,ENST00000424216,;GZF1,non_coding_transcript_exon_variant,,ENST00000461789,;GZF1,upstream_gene_variant,,ENST00000477239,;							MODERATE	887/2136	G296V	GZF1_HUMAN			Transcript		benign(0.001)	.	ENSP00000338290		CCDS13151.1			1	
MLLT4	0	LGGM	GRCh37	6	168325744	168325744	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	82	4	.	.	ENST00000392108.3:c.3051A>C	p.Gly1017=	p.G1017=	ENST00000392108	NM_001040000.2	1017	ggA/ggC	0	1		UPI000047089C	0		ENST00000447894		ENSG00000130396	7137		86			HGNC	p.G1017G		MLLT4		SNV							ENST00000447894	protein_coding			PROSITE_profiles:PS50106,hmmpanther:PTHR10398,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		G		C		3051/5475								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,downstream_gene_variant,,ENST00000497596,;MLLT4,non_coding_transcript_exon_variant,,ENST00000511637,;MLLT4,non_coding_transcript_exon_variant,,ENST00000366809,;							LOW	3051/5475		AFAD_HUMAN			Transcript			.	ENSP00000404595					1	
BOD1L1	0	LGGM	GRCh37	4	13617106	13617106	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	46	4	.	.	ENST00000040738.5:c.389G>T	p.Gly130Val	p.G130V	ENST00000040738	NM_148894.2	130	gGt/gTt	0	1	1	UPI000066D9E3	0	NA	ENST00000040738		ENSG00000038219	31792		50	2.265		HGNC	p.G130V		BOD1L1		SNV							ENST00000040738	protein_coding	getma.org/?cm=var&var=hg19,4,13617106,C,A&fts=all		hmmpanther:PTHR31532,hmmpanther:PTHR31532:SF3,Pfam_domain:PF05205		G/V		A	medium	525/10565		getma.org/?cm=msa&ty=f&p=BOD1L_HUMAN&rb=55&re=162&var=G130V					YES	BOD1L1,missense_variant,p.Gly130Val,ENST00000040738,NM_148894.2;BOD1L1,3_prime_UTR_variant,,ENST00000482713,;							MODERATE	389/9156	G130V	BD1L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000040738		CCDS3411.2			1	
SEC23IP	0	LGGM	GRCh37	10	121691740	121691740	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	50	4	.	.	ENST00000369075.3:c.2668C>A	p.Arg890Ser	p.R890S	ENST00000369075	NM_007190.3	890	Cgt/Agt	0	1	1	UPI000006FCCE	0	NA	ENST00000369075		ENSG00000107651	17018		54	1.355		HGNC	p.R890S		SEC23IP		SNV							ENST00000369075	protein_coding	getma.org/?cm=var&var=hg19,10,121691740,C,A&fts=all		PROSITE_profiles:PS51043,hmmpanther:PTHR15457,hmmpanther:PTHR15457:SF25,Pfam_domain:PF02862		R/S		A	low	2740/4656		getma.org/?cm=msa&ty=f&p=S23IP_HUMAN&rb=779&re=989&var=R890S	tolerated(0.07)				YES	SEC23IP,missense_variant,p.Arg890Ser,ENST00000369075,NM_007190.3;SEC23IP,missense_variant,p.Arg679Ser,ENST00000543134,;SEC23IP,non_coding_transcript_exon_variant,,ENST00000475542,;							MODERATE	2668/3003	R890S	S23IP_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000358071		CCDS7618.1			1	
WDR66	0	LGGM	GRCh37	12	122396317	122396317	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	79	4	.	.	ENST00000288912.4:c.1870G>T	p.Gly624Trp	p.G624W	ENST00000288912	NM_144668.5	624	Ggg/Tgg	0	1	1	UPI00001AEB2C	0	NA	ENST00000288912		ENSG00000158023	28506		83	2.495		HGNC	p.G624W		WDR66		SNV							ENST00000397454	protein_coding	getma.org/?cm=var&var=hg19,12,122396317,G,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998		G/W		T	medium	2724/4467		getma.org/?cm=msa&ty=f&p=WDR66_HUMAN&rb=597&re=634&var=G624W	deleterious(0.01)				YES	WDR66,missense_variant,p.Gly624Trp,ENST00000288912,NM_144668.5;WDR66,missense_variant,p.Gly624Trp,ENST00000397454,NM_001178003.1;WDR66,upstream_gene_variant,,ENST00000545752,;WDR66,non_coding_transcript_exon_variant,,ENST00000543211,;WDR66,non_coding_transcript_exon_variant,,ENST00000535257,;							MODERATE	1870/3450	G624W	WDR66_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000288912		CCDS41853.1			1	
RBFOX1	0	LGGM	GRCh37	16	7645572	7645572	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	55	4	.	.	ENST00000311745.5:c.550G>A	p.Glu184Lys	p.E184K	ENST00000311745	NM_145891.2	184	Gaa/Aaa	0	1		UPI0000163C0C	0	getma.org/pdb.php?prot=RFOX1_HUMAN&from=119&to=187&var=E164K	ENST00000547338		ENSG00000078328	18222		59	0.22		HGNC	p.E169K	COSM2691714,COSM2691712,COSM3888974,COSM2691713	RBFOX1		SNV						1,1,1,1	ENST00000340209	protein_coding	getma.org/?cm=var&var=hg19,16,7645572,G,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF8,Pfam_domain:PF00076,Gene3D:3.30.70.330,PIRSF_domain:PIRSF037932,SMART_domains:SM00360,Superfamily_domains:SSF54928		E/K		A	neutral	710/1513		getma.org/?cm=msa&ty=f&p=RFOX1_HUMAN&rb=119&re=187&var=E164K	deleterious(0)	Q8TCM0_HUMAN,F8VZY7_HUMAN				RBFOX1,missense_variant,p.Glu169Lys,ENST00000340209,;RBFOX1,missense_variant,p.Glu207Lys,ENST00000547372,;RBFOX1,missense_variant,p.Glu184Lys,ENST00000355637,NM_145893.2;RBFOX1,missense_variant,p.Glu184Lys,ENST00000311745,NM_145891.2,NM_145892.2;RBFOX1,missense_variant,p.Glu164Lys,ENST00000550418,NM_018723.3;RBFOX1,missense_variant,p.Glu164Lys,ENST00000553186,NM_001142333.1;RBFOX1,missense_variant,p.Glu163Lys,ENST00000547605,;RBFOX1,missense_variant,p.Glu207Lys,ENST00000422070,;RBFOX1,missense_variant,p.Glu184Lys,ENST00000436368,;RBFOX1,missense_variant,p.Glu164Lys,ENST00000547338,NM_001142334.1;RBFOX1,missense_variant,p.Glu181Lys,ENST00000552089,;RBFOX1,missense_variant,p.Glu164Lys,ENST00000551752,;RBFOX1,missense_variant,p.Glu166Lys,ENST00000570626,;RBFOX1,intron_variant,,ENST00000535565,;RBFOX1,upstream_gene_variant,,ENST00000564850,;					1,1,1,1		MODERATE	490/1194	E164K	RFOX1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000447717		CCDS55983.1			1	
P2RX1	0	LGGM	GRCh37	17	3808208	3808208	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	0	4	.	.	ENST00000225538.3:c.301G>T	p.Val101Leu	p.V101L	ENST00000225538	NM_002558.3	101	Gtg/Ttg	0	1	1	UPI000000DAAB	0	getma.org/pdb.php?prot=P2RX1_HUMAN&from=14&to=383&var=V101L	ENST00000225538		ENSG00000108405	8533		4	2.36		HGNC	p.V101L		P2RX1		SNV							ENST00000225538	protein_coding	getma.org/?cm=var&var=hg19,17,3808208,C,A&fts=all		hmmpanther:PTHR10125,hmmpanther:PTHR10125:SF9,TIGRFAM_domain:TIGR00863,Gene3D:3h9vA02,Pfam_domain:PF00864		V/L		A	medium	576/2697		getma.org/?cm=msa&ty=f&p=P2RX1_HUMAN&rb=14&re=383&var=V101L	deleterious(0.02)	Q71UK3_HUMAN,Q6PIW1_HUMAN,K4JYE8_HUMAN,D3DTJ7_HUMAN			YES	P2RX1,missense_variant,p.Val101Leu,ENST00000225538,NM_002558.3;P2RX1,non_coding_transcript_exon_variant,,ENST00000572418,;P2RX1,downstream_gene_variant,,ENST00000571637,;P2RX1,upstream_gene_variant,,ENST00000576764,;							MODERATE	301/1200	V101L	P2RX1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000225538		CCDS11040.1			1	
CORO1B	0	LGGM	GRCh37	11	67209553	67209553	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	8	4	.	.	ENST00000393893.1:c.208C>T	p.Arg70Cys	p.R70C	ENST00000393893	NM_001018070.2	70	Cgc/Tgc	0	1		UPI0000127C42	0	getma.org/pdb.php?prot=COR1B_HUMAN&from=70&to=73&var=R70C	ENST00000341356		ENSG00000172725	2253	8.70E-05	12	3.63		HGNC	p.R70C	rs781711099	CORO1B		SNV							ENST00000537042	protein_coding	getma.org/?cm=var&var=hg19,11,67209553,G,A&fts=all		hmmpanther:PTHR10856:SF16,hmmpanther:PTHR10856,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		R/C		A	high	319/1881		getma.org/?cm=msa&ty=f&p=COR1B_HUMAN&rb=40&re=103&var=R70C	deleterious(0)					CORO1B,missense_variant,p.Arg70Cys,ENST00000393893,NM_001018070.2;CORO1B,missense_variant,p.Arg70Cys,ENST00000341356,NM_020441.2;CORO1B,missense_variant,p.Arg70Cys,ENST00000453768,;CORO1B,missense_variant,p.Arg70Cys,ENST00000545016,;PTPRCAP,upstream_gene_variant,,ENST00000326294,NM_005608.2;CORO1B,non_coding_transcript_exon_variant,,ENST00000537010,;CORO1B,non_coding_transcript_exon_variant,,ENST00000545736,;CORO1B,upstream_gene_variant,,ENST00000539724,;CORO1B,upstream_gene_variant,,ENST00000539970,;CORO1B,missense_variant,p.Arg70Cys,ENST00000537042,;							MODERATE	208/1470	R70C	COR1B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000340211	8.25E-06	CCDS8164.1			1	
MUC16	0	LGGM	GRCh37	19	9091145	9091145	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	110	5	.	.	ENST00000397910.4:c.670G>A	p.Gly224Arg	p.G224R	ENST00000397910	NM_024690.2	224	Gga/Aga	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		115	0		HGNC	p.G224R	rs778218704,COSM1004167,COSM1004166	MUC16		SNV						0,1,1	ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9091145,C,T&fts=all				G/R		T	neutral	874/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1&re=652&var=G224R		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Gly224Arg,ENST00000397910,NM_024690.2;	0.000116				0,1,1		MODERATE	670/43524	G224R				Transcript		unknown(0)	.	ENSP00000381008	8.27E-06	CCDS54212.1			1	
BAI3	0	LGGM	GRCh37	6	69348983	69348983	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	42	5	.	.	ENST00000370598.1:c.416C>A	p.Pro139Gln	p.P139Q	ENST00000370598	NM_001704.2	139	cCa/cAa	0	1	1	UPI00001AE6A9	0	NA	ENST00000370598		ENSG00000135298	945		47	0.695		HGNC	p.P139Q	COSM3629219	BAI3		SNV						1	ENST00000370598	protein_coding	getma.org/?cm=var&var=hg19,6,69348983,C,A&fts=all		PROSITE_profiles:PS01180		P/Q		A	neutral	1237/6010		getma.org/?cm=msa&ty=f&p=BAI3_HUMAN&rb=1&re=266&var=P139Q	tolerated(0.15)	S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,missense_variant,p.Pro139Gln,ENST00000370598,NM_001704.2;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;RP3-525N10.2,upstream_gene_variant,,ENST00000419979,;					1		MODERATE	416/4569	P139Q	BAI3_HUMAN			Transcript		benign(0.032)	.	ENSP00000359630		CCDS4968.1			1	
RTBDN	0	LGGM	GRCh37	19	12940628	12940628	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	6	5	.	.	ENST00000322912.5:c.262G>A	p.Ala88Thr	p.A88T	ENST00000322912	NM_031429.2	88	Gca/Aca	0	1		UPI0000073E12	0	NA	ENST00000393233		ENSG00000132026	30310		11	1.175		HGNC	p.W14X		RTBDN		SNV							ENST00000393233	protein_coding	getma.org/?cm=var&var=hg19,19,12940628,C,T&fts=all				W/*		T	low	592/2076		getma.org/?cm=msa&ty=f&p=RTBDN_HUMAN&rb=27&re=183&var=A56T		Q8N210_HUMAN				RTBDN,stop_gained,p.Trp14Ter,ENST00000393233,NM_001270440.1;RTBDN,missense_variant,p.Ala88Thr,ENST00000589272,;RTBDN,missense_variant,p.Ala88Thr,ENST00000322912,NM_031429.2;RTBDN,missense_variant,p.Ala56Thr,ENST00000458671,NM_001080997.2;RTBDN,missense_variant,p.Ala66Thr,ENST00000592204,NM_001270442.1,NM_001270441.1;RTBDN,missense_variant,p.Ala56Thr,ENST00000591512,;RTBDN,missense_variant,p.Ala56Thr,ENST00000586969,;RTBDN,missense_variant,p.Ala88Thr,ENST00000587549,;RTBDN,missense_variant,p.Ala56Thr,ENST00000589808,NM_001270444.1,NM_001270443.1;RTBDN,missense_variant,p.Ala56Thr,ENST00000589681,NM_001270445.1;RTBDN,missense_variant,p.Ala62Thr,ENST00000590404,;RTBDN,missense_variant,p.Ala56Thr,ENST00000585384,;RTBDN,missense_variant,p.Ala56Thr,ENST00000589567,;MAST1,upstream_gene_variant,,ENST00000591495,;CTD-2265O21.3,intron_variant,,ENST00000588469,;HOOK2,intron_variant,,ENST00000589765,;							HIGH	42/675	A56T				Transcript			.	ENSP00000376925					1	
MPV17L	0	LGGM	GRCh37	16	15501879	15501879	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	5	.	.	ENST00000396385.3:c.501C>A	p.Ser167=	p.S167=	ENST00000396385	NM_001128423.1	167	tcC/tcA	0	1	1	UPI000067CA92	0		ENST00000396385		ENSG00000156968	26827		46			HGNC	p.P144T		MPV17L		SNV							ENST00000287594	protein_coding			Pfam_domain:PF04117,hmmpanther:PTHR11266:SF9,hmmpanther:PTHR11266		S		A		620/1037							YES	MPV17L,missense_variant,p.Pro144Thr,ENST00000287594,NM_173803.3;MPV17L,synonymous_variant,p.=,ENST00000396385,NM_001128423.1;RP11-1021N1.1,intron_variant,,ENST00000568766,;MPV17L,3_prime_UTR_variant,,ENST00000564148,;RP11-1021N1.1,intron_variant,,ENST00000568222,;RP11-1021N1.1,intron_variant,,ENST00000567442,;							LOW	501/591		MP17L_HUMAN			Transcript			.	ENSP00000379669		CCDS45421.1			1	
FKBP15	0	LGGM	GRCh37	9	115969536	115969536	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	115	5	.	.	ENST00000238256.3:c.210C>T	p.Ser70=	p.S70=	ENST00000238256	NM_015258.1	70	agC/agT	0	1	1	UPI000022D996	0		ENST00000238256		ENSG00000119321	23397		120			HGNC	p.S70S		FKBP15		SNV							ENST00000238256	protein_coding					S		A		328/4336				B4DZS8_HUMAN			YES	FKBP15,synonymous_variant,p.=,ENST00000446284,;FKBP15,synonymous_variant,p.=,ENST00000238256,NM_015258.1;FKBP15,synonymous_variant,p.=,ENST00000414250,;FKBP15,non_coding_transcript_exon_variant,,ENST00000493847,;FKBP15,non_coding_transcript_exon_variant,,ENST00000462889,;							LOW	210/3660		FKB15_HUMAN			Transcript			.	ENSP00000238256		CCDS48007.1			1	
HMCN1	0	LGGM	GRCh37	1	186026387	186026387	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	42	5	.	.	ENST00000271588.4:c.7166A>G	p.Asn2389Ser	p.N2389S	ENST00000271588	NM_031935.2	2389	aAc/aGc	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=2389&to=2474&var=N2389S	ENST00000271588		ENSG00000143341	19194		47	0.55		HGNC	p.N2389S		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186026387,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158		N/S		G	neutral	7395/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=2389&re=2474&var=N2389S					YES	HMCN1,missense_variant,p.Asn2389Ser,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Asn2389Ser,ENST00000367492,;							MODERATE	7166/16908	N2389S	HMCN1_HUMAN			Transcript		benign(0.054)	.	ENSP00000271588		CCDS30956.1			1	
ZNF331	0	LGGM	GRCh37	19	54080433	54080433	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	77	5	.	.	ENST00000253144.9:c.619A>T	p.Arg207Trp	p.R207W	ENST00000253144	NM_018555.5	207	Agg/Tgg	0	1	1	UPI0000039DC3	0	getma.org/pdb.php?prot=ZN331_HUMAN&from=201&to=226&var=R207W	ENST00000253144		ENSG00000130844	15489		82	3.1		HGNC	p.R207W		ZNF331		SNV							ENST00000511593	protein_coding	getma.org/?cm=var&var=hg19,19,54080433,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF13,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/W		T	medium	1952/5042		getma.org/?cm=msa&ty=f&p=ZN331_HUMAN&rb=181&re=246&var=R207W	deleterious(0)	Q8NBU2_HUMAN,Q71QC9_HUMAN,Q71QC6_HUMAN,Q71QC5_HUMAN,Q71QC3_HUMAN,Q6PK05_HUMAN,E7EWU7_HUMAN,E7EV14_HUMAN,E7ETJ5_HUMAN,E7ERM8_HUMAN,E7EPT0_HUMAN,E7EPG5_HUMAN,E7ENR0_HUMAN,D6RH27_HUMAN			YES	ZNF331,missense_variant,p.Arg207Trp,ENST00000253144,NM_018555.5,NM_001253801.1;ZNF331,missense_variant,p.Arg207Trp,ENST00000449416,;ZNF331,missense_variant,p.Arg207Trp,ENST00000411977,NM_001079906.1;ZNF331,missense_variant,p.Arg207Trp,ENST00000512387,;ZNF331,missense_variant,p.Arg207Trp,ENST00000511154,;ZNF331,missense_variant,p.Arg207Trp,ENST00000511593,;ZNF331,missense_variant,p.Arg207Trp,ENST00000513999,NM_001253800.1;ZNF331,intron_variant,,ENST00000513265,;ZNF331,downstream_gene_variant,,ENST00000514022,;ZNF331,downstream_gene_variant,,ENST00000505949,;ZNF331,downstream_gene_variant,,ENST00000505426,;ZNF331,downstream_gene_variant,,ENST00000502248,;ZNF331,downstream_gene_variant,,ENST00000509047,NM_001253799.1;ZNF331,downstream_gene_variant,,ENST00000504493,NM_001079907.1;ZNF331,downstream_gene_variant,,ENST00000514374,;ZNF331,downstream_gene_variant,,ENST00000502616,;ZNF331,downstream_gene_variant,,ENST00000509585,NM_001253798.1;ZNF331,downstream_gene_variant,,ENST00000511567,;							MODERATE	619/1392	R207W	ZN331_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000253144		CCDS33102.1			1	
ATP10B	0	LGGM	GRCh37	5	160061481	160061481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	73	5	.	.	ENST00000327245.5:c.1261G>T	p.Ala421Ser	p.A421S	ENST00000327245	NM_025153.2	421	Gca/Tca	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		78	0		HGNC	p.A421S		ATP10B		SNV							ENST00000327245	protein_coding	getma.org/?cm=var&var=hg19,5,160061481,C,A&fts=all		Superfamily_domains:0049473,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		A/S		A	neutral	2108/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=371&re=459&var=A421S	deleterious(0.02)				YES	ATP10B,missense_variant,p.Ala421Ser,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Ala29Ser,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,;							MODERATE	1261/4386	A421S	AT10B_HUMAN			Transcript		benign(0.003)	.	ENSP00000313600		CCDS43394.1			1	
TP53	0	LGGM	GRCh37	17	7577509	7577509	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	6	5	.	.	ENST00000269305.4:c.772G>T	p.Glu258Ter	p.E258*	ENST00000269305	NM_001126112.2	258	Gaa/Taa	0	1	1	UPI000002ED67	0	NA	ENST00000269305		ENSG00000141510	11998		11	0		HGNC	p.E258X	TP53_g.13409G>T,COSM43568,COSM173138,COSM173137,COSM3388180,COSM2744566	TP53		SNV			1			0,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577509,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		E/*		A	NA	962/2579		NA		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			YES	TP53,stop_gained,p.Glu258Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Glu258Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Glu258Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Glu258Ter,ENST00000445888,;TP53,stop_gained,p.Glu258Ter,ENST00000359597,;TP53,stop_gained,p.Glu258Ter,ENST00000413465,;TP53,stop_gained,p.Glu126Ter,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,;					0,1,1,1,1,1		HIGH	772/1182	E258*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
NINL	0	LGGM	GRCh37	20	25477393	25477393	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	16	5	.	.	ENST00000278886.6:c.1216G>T	p.Asp406Tyr	p.D406Y	ENST00000278886	NM_025176.4	406	Gac/Tac	0	1	1	UPI0000206B64	0	NA	ENST00000278886		ENSG00000101004	29163		21	2.42		HGNC	p.D406Y		NINL		SNV							ENST00000422516	protein_coding	getma.org/?cm=var&var=hg19,20,25477393,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12		D/Y		A	medium	1290/4969		getma.org/?cm=msa&ty=f&p=NINL_HUMAN&rb=265&re=464&var=D406Y	deleterious(0)				YES	NINL,missense_variant,p.Asp406Tyr,ENST00000278886,NM_025176.4;NINL,missense_variant,p.Asp406Tyr,ENST00000422516,;NINL,non_coding_transcript_exon_variant,,ENST00000461642,;							MODERATE	1216/4149	D406Y	NINL_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000278886		CCDS33452.1			1	
PRKAB1	0	LGGM	GRCh37	12	120111768	120111768	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	29	6	.	.	ENST00000229328.5:c.324-1G>A		p.X108_splice	ENST00000229328	NM_006253.4			0	1	1	UPI000013C8F7	0		ENST00000229328		ENSG00000111725	9378		35			HGNC	-		PRKAB1		SNV							ENST00000229328	protein_coding							A		-/2610				F5H610_HUMAN,F5H2X8_HUMAN,B4DVP2_HUMAN			YES	PRKAB1,splice_acceptor_variant,,ENST00000229328,NM_006253.4;PRKAB1,splice_acceptor_variant,,ENST00000541640,;PRKAB1,splice_acceptor_variant,,ENST00000540121,;PRKAB1,splice_acceptor_variant,,ENST00000545223,;PRKAB1,non_coding_transcript_exon_variant,,ENST00000545870,;PRKAB1,upstream_gene_variant,,ENST00000542698,;PRKAB1,downstream_gene_variant,,ENST00000537400,;							HIGH	324/813		AAKB1_HUMAN			Transcript			.	ENSP00000229328		CCDS9191.1			1	
L3MBTL3	0	LGGM	GRCh37	6	130442080	130442080	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	115	6	.	.	ENST00000529410.1:c.1943T>A	p.Met648Lys	p.M648K	ENST00000529410		648	aTg/aAg	0	1		UPI00001C1E3E	0	NA	ENST00000361794		ENSG00000198945	23035		121	1.1		HGNC	p.M274K		L3MBTL3		SNV							ENST00000563385	protein_coding	getma.org/?cm=var&var=hg19,6,130442080,T,A&fts=all		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72		M/K		A	low	2113/4197		getma.org/?cm=msa&ty=f&p=LMBL3_HUMAN&rb=549&re=705&var=M648K	tolerated(0.29)	E9PLL7_HUMAN				L3MBTL3,missense_variant,p.Met648Lys,ENST00000529410,;L3MBTL3,missense_variant,p.Met648Lys,ENST00000368136,;L3MBTL3,missense_variant,p.Met648Lys,ENST00000361794,NM_032438.2;L3MBTL3,missense_variant,p.Met623Lys,ENST00000368139,;L3MBTL3,missense_variant,p.Met623Lys,ENST00000526019,;L3MBTL3,missense_variant,p.Met623Lys,ENST00000533560,NM_001007102.2;							MODERATE	1943/2343	M648K	LMBL3_HUMAN			Transcript		benign(0)	.	ENSP00000354526		CCDS34537.1			1	
ZNF165	0	LGGM	GRCh37	6	28056406	28056406	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	109	6	.	.	ENST00000377325.1:c.616A>G	p.Arg206Gly	p.R206G	ENST00000377325	NM_003447.3	206	Aga/Gga	0	1	1	UPI000000129B	0	NA	ENST00000377325		ENSG00000197279	12953		115	0.805		HGNC	p.R206G		ZNF165		SNV							ENST00000377325	protein_coding	getma.org/?cm=var&var=hg19,6,28056406,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF61		R/G		G	low	1172/2107		getma.org/?cm=msa&ty=f&p=ZN165_HUMAN&rb=139&re=338&var=R206G	tolerated(0.43)	Q53Z40_HUMAN			YES	ZNF165,missense_variant,p.Arg206Gly,ENST00000377325,NM_003447.3;ZSCAN12P1,upstream_gene_variant,,ENST00000529104,;ZSCAN12P1,upstream_gene_variant,,ENST00000406489,;							MODERATE	616/1458	R206G	ZN165_HUMAN			Transcript		benign(0.002)	.	ENSP00000366542		CCDS4643.1			1	
SEMA6A	0	LGGM	GRCh37	5	115803415	115803415	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	59	6	.	.	ENST00000343348.6:c.1758A>G	p.Thr586=	p.T586=	ENST00000343348	NM_020796.3	586	acA/acG	0	1	1	UPI000020C463	0		ENST00000343348		ENSG00000092421	10738		65			HGNC	p.T603T		SEMA6A		SNV							ENST00000257414	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036		T		C		2546/6878				D6RCR0_HUMAN,D6RAG9_HUMAN			YES	SEMA6A,synonymous_variant,p.=,ENST00000343348,NM_020796.3;SEMA6A,synonymous_variant,p.=,ENST00000257414,;SEMA6A,synonymous_variant,p.=,ENST00000513137,;SEMA6A,synonymous_variant,p.=,ENST00000510263,;SEMA6A,intron_variant,,ENST00000282394,;SEMA6A,intron_variant,,ENST00000515129,;CTB-118N6.3,intron_variant,,ENST00000508424,;CTB-118N6.3,intron_variant,,ENST00000514214,;CTB-118N6.3,intron_variant,,ENST00000508640,;CTB-118N6.3,intron_variant,,ENST00000510682,;CTB-118N6.3,upstream_gene_variant,,ENST00000507558,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000506114,;							LOW	1758/3093		SEM6A_HUMAN			Transcript			.	ENSP00000345512		CCDS47256.1			1	
CYP11A1	0	LGGM	GRCh37	15	74659837	74659837	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	8	6	.	.	ENST00000268053.6:c.90C>A	p.Leu30=	p.L30=	ENST00000268053	NM_000781.2	30	ctC/ctA	0	1	1	UPI00000725F7	0		ENST00000268053		ENSG00000140459	2590		14			HGNC	p.L30L		CYP11A1		SNV			1				ENST00000435365	protein_coding			hmmpanther:PTHR24279,hmmpanther:PTHR24279:SF3		L		T		245/1934				Q2HZF3_HUMAN,H3BSZ1_HUMAN,H3BS93_HUMAN,C9JPU9_HUMAN			YES	CYP11A1,synonymous_variant,p.=,ENST00000268053,NM_000781.2;CYP11A1,synonymous_variant,p.=,ENST00000541301,;CYP11A1,synonymous_variant,p.=,ENST00000416978,;CYP11A1,upstream_gene_variant,,ENST00000358632,NM_001099773.1;CYP11A1,upstream_gene_variant,,ENST00000419019,;CYP11A1,upstream_gene_variant,,ENST00000450547,;CYP11A1,upstream_gene_variant,,ENST00000569662,;CTD-2311M21.3,downstream_gene_variant,,ENST00000568496,;CYP11A1,non_coding_transcript_exon_variant,,ENST00000467407,;CTD-2311M21.2,downstream_gene_variant,,ENST00000562009,;CYP11A1,synonymous_variant,p.=,ENST00000435365,;CYP11A1,upstream_gene_variant,,ENST00000466978,;							LOW	90/1566		CP11A_HUMAN			Transcript			.	ENSP00000268053		CCDS32291.1			1	
OR52N5	0	LGGM	GRCh37	11	5799812	5799812	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	79	7	.	.	ENST00000317093.2:c.53C>G	p.Pro18Arg	p.P18R	ENST00000317093	NM_001001922.2	18	cCa/cGa	0	1	1	UPI0000041BF9	0	NA	ENST00000317093		ENSG00000181009	15231		86	0.585		HGNC	p.P18R		OR52N5		SNV							ENST00000317093	protein_coding	getma.org/?cm=var&var=hg19,11,5799812,G,C&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF18,Superfamily_domains:SSF81321		P/R		C	neutral	86/1034		getma.org/?cm=msa&ty=f&p=O52N5_HUMAN&rb=1&re=149&var=P18R	tolerated(0.13)				YES	OR52N5,missense_variant,p.Pro18Arg,ENST00000317093,NM_001001922.2;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							MODERATE	53/975	P18R	O52N5_HUMAN			Transcript		benign(0.001)	.	ENSP00000322866		CCDS31397.1			1	
SLC22A8	0	LGGM	GRCh37	11	62763560	62763560	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	42	7	.	.	ENST00000336232.2:c.826C>A	p.Leu276Ile	p.L276I	ENST00000336232	NM_001184736.1	276	Ctc/Atc	0	1	1	UPI0000036DF2	0	NA	ENST00000336232		ENSG00000149452	10972		49	1.735		HGNC	p.L276I		SLC22A8		SNV							ENST00000311438	protein_coding	getma.org/?cm=var&var=hg19,11,62763560,G,T&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064:SF34,hmmpanther:PTHR24064,PROSITE_profiles:PS50850		L/I		T	low	962/2178		getma.org/?cm=msa&ty=f&p=S22A8_HUMAN&rb=86&re=507&var=L276I	deleterious(0.03)				YES	SLC22A8,missense_variant,p.Leu276Ile,ENST00000336232,NM_001184736.1,NM_001184732.1,NM_004254.3;SLC22A8,missense_variant,p.Leu276Ile,ENST00000430500,;SLC22A8,missense_variant,p.Leu276Ile,ENST00000311438,;SLC22A8,missense_variant,p.Leu185Ile,ENST00000545207,NM_001184733.1;SLC22A8,missense_variant,p.Leu153Ile,ENST00000535878,;SLC22A8,downstream_gene_variant,,ENST00000542795,;SLC22A8,non_coding_transcript_exon_variant,,ENST00000539841,;SLC22A8,upstream_gene_variant,,ENST00000451262,;SLC22A8,downstream_gene_variant,,ENST00000542904,;							MODERATE	826/1629	L276I	S22A8_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000337335		CCDS8042.1			1	
TMEM132B	0	LGGM	GRCh37	12	126137014	126137014	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	13	8	.	.	ENST00000299308.3:c.1927C>A	p.Leu643Met	p.L643M	ENST00000299308	NM_052907.2	643	Ctg/Atg	0	1	1	UPI00006BFF58	0	NA	ENST00000299308		ENSG00000139364	29397		21	2.13		HGNC	p.L155M		TMEM132B		SNV							ENST00000535886	protein_coding	getma.org/?cm=var&var=hg19,12,126137014,C,A&fts=all		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5		L/M		A	medium	1935/10906		getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=L643M	deleterious(0)				YES	TMEM132B,missense_variant,p.Leu643Met,ENST00000299308,NM_052907.2;TMEM132B,missense_variant,p.Leu155Met,ENST00000535886,NM_001286219.1;							MODERATE	1927/3237	L643M	T132B_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000299308		CCDS41859.1			1	
KIAA0319L	0	LGGM	GRCh37	1	35940454	35940454	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	36	8	.	.	ENST00000325722.3:c.967A>T	p.Lys323Ter	p.K323*	ENST00000325722	NM_024874.4	323	Aag/Tag	0	1	1	UPI000003F081	0	NA	ENST00000325722		ENSG00000142687	30071		44	0		HGNC	p.K401X		KIAA0319L		SNV			1				ENST00000482929	protein_coding	getma.org/?cm=var&var=hg19,1,35940454,T,A&fts=all		SMART_domains:SM00089,hmmpanther:PTHR10083:SF166,hmmpanther:PTHR10083		K/*		A	NA	1202/4789		NA		E7EN73_HUMAN,C9JVB2_HUMAN,C9JQ56_HUMAN,C9J519_HUMAN,B1AN15_HUMAN			YES	KIAA0319L,stop_gained,p.Lys323Ter,ENST00000325722,NM_024874.4;KIAA0319L,stop_gained,p.Lys323Ter,ENST00000426982,;KIAA0319L,stop_gained,p.Lys323Ter,ENST00000440579,;KIAA0319L,intron_variant,,ENST00000431916,;KIAA0319L,downstream_gene_variant,,ENST00000469892,;KIAA0319L,upstream_gene_variant,,ENST00000485551,;KIAA0319L,downstream_gene_variant,,ENST00000492888,;KIAA0319L,stop_gained,p.Lys323Ter,ENST00000482929,;KIAA0319L,stop_gained,p.Lys323Ter,ENST00000478463,;KIAA0319L,3_prime_UTR_variant,,ENST00000470388,;							HIGH	967/3150	K323*	K319L_HUMAN			Transcript			.	ENSP00000318406		CCDS390.1			1	
ZNF354A	0	LGGM	GRCh37	5	178139625	178139625	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	45	8	.	.	ENST00000335815.2:c.1254C>T	p.Gly418=	p.G418=	ENST00000335815	NM_005649.2	418	ggC/ggT	0	1	1	UPI000013EB5E	0		ENST00000335815		ENSG00000169131	11628		53			HGNC	p.G418G		ZNF354A		SNV							ENST00000335815	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF146,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G		A		1452/2484				E5RHT5_HUMAN			YES	ZNF354A,synonymous_variant,p.=,ENST00000335815,NM_005649.2;ZNF354A,downstream_gene_variant,,ENST00000520331,;							LOW	1254/1818		Z354A_HUMAN			Transcript			.	ENSP00000337122		CCDS4438.1			1	
NFATC2	0	LGGM	GRCh37	20	50092116	50092116	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	18	8	.	.	ENST00000396009.3:c.1414G>A	p.Ala472Thr	p.A472T	ENST00000396009	NM_001258297.1	472	Gcc/Acc	0	1	1	UPI0000167D0F	0	getma.org/pdb.php?prot=NFAC2_HUMAN&from=410&to=570&var=A472T	ENST00000396009		ENSG00000101096	7776		26	2.48		HGNC	p.A472T		NFATC2		SNV							ENST00000396009	protein_coding	getma.org/?cm=var&var=hg19,20,50092116,C,T&fts=all		Superfamily_domains:SSF49417,Gene3D:2.60.40.340,Pfam_domain:PF00554,hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533,PROSITE_profiles:PS50254		A/T		T	medium	1634/7437		getma.org/?cm=msa&ty=f&p=NFAC2_HUMAN&rb=410&re=570&var=A472T	deleterious(0.03)	B5B2P4_HUMAN,B5B2P3_HUMAN			YES	NFATC2,missense_variant,p.Ala472Thr,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,missense_variant,p.Ala472Thr,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,missense_variant,p.Ala452Thr,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,missense_variant,p.Ala452Thr,ENST00000414705,;NFATC2,missense_variant,p.Ala253Thr,ENST00000610033,;NFATC2,missense_variant,p.Ala253Thr,ENST00000609507,NM_001258294.1;							MODERATE	1414/2778	A472T	NFAC2_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000379330		CCDS13437.1			1	
RAD51AP2	0	LGGM	GRCh37	2	17699682	17699682	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	25	9	.	.	ENST00000399080.2:c.1A>G	p.Met1?	p.M1?	ENST00000399080	NM_001099218.2	1	Atg/Gtg	0	1	1	UPI0000418FD4	0	NA	ENST00000399080		ENSG00000214842	34417		34	0		HGNC	p.M1V		RAD51AP2		SNV							ENST00000399080	protein_coding	getma.org/?cm=var&var=hg19,2,17699682,T,C&fts=all				M/V		C	NA	25/3724		http://getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=M1V	deleterious(0.01)				YES	RAD51AP2,start_lost,p.Met1?,ENST00000399080,NM_001099218.2;							HIGH	Jan-80	M1V	R51A2_HUMAN			Transcript		benign(0.005)	.	ENSP00000382030		CCDS42656.1			1	
BIRC6	0	LGGM	GRCh37	2	32620641	32620641	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	110	9	.	.	ENST00000421745.2:c.1014G>A	p.Trp338Ter	p.W338*	ENST00000421745	NM_016252.3	338	tgG/tgA	0	1	1	UPI0001611442	0	NA	ENST00000421745		ENSG00000115760	13516		119	0		HGNC	p.W338X		BIRC6		SNV							ENST00000421745	protein_coding	getma.org/?cm=var&var=hg19,2,32620641,G,A&fts=all		Gene3D:1.10.1170.10,Pfam_domain:PF00653,PROSITE_profiles:PS50143,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93,SMART_domains:SM00238,Superfamily_domains:SSF57924		W/*		A	NA	1148/15703		NA					YES	BIRC6,stop_gained,p.Trp338Ter,ENST00000421745,NM_016252.3;BIRC6,non_coding_transcript_exon_variant,,ENST00000466527,;							HIGH	1014/14574	W338*	BIRC6_HUMAN			Transcript			.	ENSP00000393596		CCDS33175.2			1	
PCLO	0	LGGM	GRCh37	7	82581467	82581467	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	136	9	.	.	ENST00000333891.9:c.8802A>T	p.Ala2934=	p.A2934=	ENST00000333891	NM_033026.5	2934	gcA/gcT	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		145			HGNC	p.A2934A		PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		A		A		9140/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							LOW	8802/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
ZNF521	0	LGGM	GRCh37	18	22807409	22807409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	9	.	.	ENST00000361524.3:c.473A>G	p.Lys158Arg	p.K158R	ENST00000361524	NM_015461.2	158	aAg/aGg	0	1	1	UPI000006F982	0	getma.org/pdb.php?prot=ZN521_HUMAN&from=141&to=159&var=K158R	ENST00000361524		ENSG00000198795	24605		50	1.175		HGNC	p.K158R		ZNF521		SNV							ENST00000538137	protein_coding	getma.org/?cm=var&var=hg19,18,22807409,T,C&fts=all		Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24385,hmmpanther:PTHR24385:SF32,PROSITE_profiles:PS50157		K/R		C	low	622/4871		getma.org/?cm=msa&ty=f&p=ZN521_HUMAN&rb=111&re=189&var=K158R	deleterious(0)	J3QRW6_HUMAN,J3KTI4_HUMAN,J3KT07_HUMAN,J3KSZ4_HUMAN			YES	ZNF521,missense_variant,p.Lys158Arg,ENST00000361524,NM_015461.2;ZNF521,missense_variant,p.Lys158Arg,ENST00000538137,;ZNF521,missense_variant,p.Lys158Arg,ENST00000577801,;ZNF521,missense_variant,p.Lys105Arg,ENST00000577720,;ZNF521,5_prime_UTR_variant,,ENST00000584787,;ZNF521,upstream_gene_variant,,ENST00000577775,;ZNF521,downstream_gene_variant,,ENST00000580488,;ZNF521,non_coding_transcript_exon_variant,,ENST00000581869,;ZNF521,downstream_gene_variant,,ENST00000579111,;ZNF521,downstream_gene_variant,,ENST00000583005,;ZNF521,missense_variant,p.Lys158Arg,ENST00000399425,;ZNF521,downstream_gene_variant,,ENST00000583398,;							MODERATE	473/3936	K158R	ZN521_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000354794		CCDS32806.1			1	
TAF4B	0	LGGM	GRCh37	18	23866135	23866135	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	31	10	.	.	ENST00000269142.5:c.1262C>A	p.Thr421Lys	p.T421K	ENST00000269142	NM_005640.1	421	aCa/aAa	0	1	1	UPI00006C65F2	0	NA	ENST00000269142		ENSG00000141384	11538		41	0.345		HGNC	p.T421K		TAF4B		SNV			1				ENST00000269142	protein_coding	getma.org/?cm=var&var=hg19,18,23866135,C,A&fts=all		hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF11,Low_complexity_(Seg):seg		T/K		A	neutral	2260/5260		getma.org/?cm=msa&ty=f&p=TAF4B_HUMAN&rb=354&re=553&var=T421K	tolerated(0.46)	B4DYT3_HUMAN,A4PBF8_HUMAN			YES	TAF4B,missense_variant,p.Thr421Lys,ENST00000269142,NM_005640.1;TAF4B,missense_variant,p.Thr421Lys,ENST00000578121,;TAF4B,missense_variant,p.Thr421Lys,ENST00000400466,;TAF4B,missense_variant,p.Thr421Lys,ENST00000418698,;							MODERATE	1262/2589	T421K	TAF4B_HUMAN			Transcript		benign(0.034)	.	ENSP00000269142		CCDS42421.1			1	
COL24A1	0	LGGM	GRCh37	1	86289234	86289234	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	10	.	.	ENST00000370571.2:c.3774A>G	p.Gly1258=	p.G1258=	ENST00000370571	NM_152890.5	1258	ggA/ggG	0	1	1	UPI000013E81F	0		ENST00000370571		ENSG00000171502	20821		51			HGNC	p.G1258G		COL24A1		SNV							ENST00000370571	protein_coding			Pfam_domain:PF01391,Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		G		C		4141/6825				E9PNK8_HUMAN			YES	COL24A1,synonymous_variant,p.=,ENST00000370571,NM_152890.5;COL24A1,synonymous_variant,p.=,ENST00000436319,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;							LOW	3774/5145		COOA1_HUMAN			Transcript			.	ENSP00000359603		CCDS41353.1			1	
CENPF	0	LGGM	GRCh37	1	214828742	214828742	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	35	10	.	.	ENST00000366955.3:c.8481A>C	p.Lys2827Asn	p.K2827N	ENST00000366955	NM_016343.3	2827	aaA/aaC	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		45	1.905		HGNC	p.K2827N		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214828742,A,C&fts=all		hmmpanther:PTHR18874		K/N		C	medium	8649/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=2749&re=2948&var=K2923N					YES	CENPF,missense_variant,p.Lys2827Asn,ENST00000366955,NM_016343.3;CENPF,non_coding_transcript_exon_variant,,ENST00000469862,;CENPF,downstream_gene_variant,,ENST00000467765,;							MODERATE	8481/9345	K2923N	CENPF_HUMAN			Transcript		benign(0.021)	.	ENSP00000355922		CCDS31023.1			1	
MEA1	0	LGGM	GRCh37	6	42980314	42980314	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	127	10	.	.	ENST00000244711.3:c.452C>G	p.Pro151Arg	p.P151R	ENST00000244711	NM_014623.2	151	cCt/cGt	0	1	1	UPI000007291B	0	NA	ENST00000244711		ENSG00000124733	6986		137	1.1		HGNC	p.P151R		MEA1		SNV							ENST00000244711	protein_coding	getma.org/?cm=var&var=hg19,6,42980314,G,C&fts=all		Pfam_domain:PF06910,hmmpanther:PTHR17005,hmmpanther:PTHR17005:SF2		P/R		C	low	607/1089		getma.org/?cm=msa&ty=f&p=MEA1_HUMAN&rb=14&re=185&var=P151R	deleterious(0)				YES	MEA1,missense_variant,p.Pro151Arg,ENST00000244711,NM_014623.2;PPP2R5D,downstream_gene_variant,,ENST00000485511,NM_001270476.1,NM_006245.3;PPP2R5D,downstream_gene_variant,,ENST00000472118,;PPP2R5D,downstream_gene_variant,,ENST00000394110,NM_180976.2;PPP2R5D,downstream_gene_variant,,ENST00000470467,;KLHDC3,upstream_gene_variant,,ENST00000326974,NM_057161.3;KLHDC3,upstream_gene_variant,,ENST00000244670,;KLHDC3,upstream_gene_variant,,ENST00000332245,;PPP2R5D,downstream_gene_variant,,ENST00000461010,NM_180977.2;PPP2R5D,downstream_gene_variant,,ENST00000486843,;PPP2R5D,downstream_gene_variant,,ENST00000230402,;PPP2R5D,downstream_gene_variant,,ENST00000467447,;PPP2R5D,downstream_gene_variant,,ENST00000482315,;							MODERATE	452/558	P151R	MEA1_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000244711		CCDS4879.1			1	
TBC1D8B	0	LGGM	GRCh37	X	106046108	106046108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	3	11	.	.	ENST00000357242.5:c.25C>T	p.Leu9Phe	p.L9F	ENST00000357242	NM_017752.2	9	Ctt/Ttt	0	1	1	UPI0000225CD5	0	NA	ENST00000357242		ENSG00000133138	24715		14	2.67		HGNC	p.L9F		TBC1D8B		SNV							ENST00000276175	protein_coding	getma.org/?cm=var&var=hg19,X,106046108,C,T&fts=all				L/F		T	medium	199/5717		getma.org/?cm=msa&ty=f&p=TBC8B_HUMAN&rb=1&re=144&var=L9F	deleterious(0)	D6RC82_HUMAN			YES	TBC1D8B,missense_variant,p.Leu9Phe,ENST00000357242,NM_017752.2;TBC1D8B,missense_variant,p.Leu9Phe,ENST00000481617,;TBC1D8B,missense_variant,p.Leu9Phe,ENST00000276175,;TBC1D8B,missense_variant,p.Leu9Phe,ENST00000310452,NM_198881.1;							MODERATE	25/3363	L9F	TBC8B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349781		CCDS14522.1			1	
FAM47A	0	LGGM	GRCh37	X	34150319	34150319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	23	11	.	.	ENST00000346193.3:c.77C>T	p.Pro26Leu	p.P26L	ENST00000346193	NM_203408.3	26	cCt/cTt	0	1	1	UPI000013F1F4	0	NA	ENST00000346193		ENSG00000185448	29962		34	1.7		HGNC	p.P26L		FAM47A		SNV							ENST00000346193	protein_coding	getma.org/?cm=var&var=hg19,X,34150319,G,A&fts=all		hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642		P/L		A	low	129/2579		getma.org/?cm=msa&ty=f&p=FA47A_HUMAN&rb=1&re=169&var=P26L	deleterious(0.05)				YES	FAM47A,missense_variant,p.Pro26Leu,ENST00000346193,NM_203408.3;							MODERATE	77/2376	P26L	FA47A_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000345029		CCDS43926.1			1	
AHNAK	0	LGGM	GRCh37	11	62294729	62294729	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	11	.	.	ENST00000378024.4:c.7160C>G	p.Ser2387Cys	p.S2387C	ENST00000378024	NM_001620.2	2387	tCt/tGt	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		52	3.745		HGNC	p.S2387C		AHNAK		SNV							ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62294729,G,C&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		S/C		C	high	7435/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=2201&re=2400&var=S2387C		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Ser2387Cys,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;							MODERATE	7160/17673	S2387C	AHNK_HUMAN			Transcript		possibly_damaging(0.634)	.	ENSP00000367263		CCDS31584.1			1	
FAM135B	0	LGGM	GRCh37	8	139163667	139163667	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	24	12	.	.	ENST00000395297.1:c.3051A>G	p.Ala1017=	p.A1017=	ENST00000395297	NM_015912.3	1017	gcA/gcG	0	1	1	UPI000057A0DB	0		ENST00000395297		ENSG00000147724	28029		36			HGNC	p.A1017A	rs542411080	FAM135B		SNV				9.61E-05			ENST00000276737	protein_coding		C:0.0008	hmmpanther:PTHR12482,hmmpanther:PTHR12482:SF3		A		C		3222/6962				J3QSR3_HUMAN	C:0	C:0	YES	FAM135B,synonymous_variant,p.=,ENST00000395297,NM_015912.3;FAM135B,synonymous_variant,p.=,ENST00000276737,;FAM135B,synonymous_variant,p.=,ENST00000467365,;FAM135B,3_prime_UTR_variant,,ENST00000482951,;FAM135B,upstream_gene_variant,,ENST00000395295,;		C:0.0002					LOW	3051/4221		F135B_HUMAN		C:0	Transcript			.	ENSP00000378710	8.24E-06	CCDS6375.2		C:0	1	
GLCCI1	0	LGGM	GRCh37	7	8043669	8043669	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	50	13	.	.	ENST00000223145.5:c.589A>T	p.Met197Leu	p.M197L	ENST00000223145	NM_138426.3	197	Atg/Ttg	0	1	1	UPI00001907F7	0	NA	ENST00000223145		ENSG00000106415	18713		63	0.975		HGNC	p.M85L		GLCCI1		SNV			1				ENST00000414914	protein_coding	getma.org/?cm=var&var=hg19,7,8043669,A,T&fts=all		hmmpanther:PTHR14972,hmmpanther:PTHR14972:SF3,Pfam_domain:PF15388		M/L		T	low	1146/4743		getma.org/?cm=msa&ty=f&p=GLCI1_HUMAN&rb=1&re=200&var=M197L	tolerated(0.05)				YES	GLCCI1,missense_variant,p.Met197Leu,ENST00000223145,NM_138426.3;GLCCI1,missense_variant,p.Met85Leu,ENST00000430798,;GLCCI1,missense_variant,p.Met85Leu,ENST00000414914,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000474269,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000469183,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000470583,;RPA3-AS1,non_coding_transcript_exon_variant,,ENST00000468567,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000489405,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000492797,;GLCCI1,non_coding_transcript_exon_variant,,ENST00000460897,;							MODERATE	589/1644	M197L	GLCI1_HUMAN			Transcript		possibly_damaging(0.65)	.	ENSP00000223145		CCDS34601.1			1	
NELL2	0	LGGM	GRCh37	12	45004745	45004745	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	28	13	.	.	ENST00000437801.2:c.1603G>A	p.Glu535Lys	p.E535K	ENST00000437801	NM_001145107.1	535	Gag/Aag	0	1		UPI0000001063	0	getma.org/pdb.php?prot=NELL2_HUMAN&from=482&to=522&var=E485K	ENST00000429094		ENSG00000184613	7751		41	3.575		HGNC	p.E485K		NELL2		SNV							ENST00000429094	protein_coding	getma.org/?cm=var&var=hg19,12,45004745,C,T&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24042,hmmpanther:PTHR24042:SF0,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184		E/K		T	high	1958/3612		getma.org/?cm=msa&ty=f&p=NELL2_HUMAN&rb=482&re=522&var=E485K	deleterious(0)	F8W1I8_HUMAN,F8W1A2_HUMAN,F8VRQ0_HUMAN				NELL2,missense_variant,p.Glu485Lys,ENST00000429094,NM_001145108.1;NELL2,missense_variant,p.Glu535Lys,ENST00000437801,NM_001145107.1;NELL2,missense_variant,p.Glu484Lys,ENST00000395487,NM_001145109.1;NELL2,missense_variant,p.Glu485Lys,ENST00000452445,NM_006159.2;NELL2,missense_variant,p.Glu484Lys,ENST00000551601,;NELL2,missense_variant,p.Glu484Lys,ENST00000549027,;NELL2,missense_variant,p.Glu508Lys,ENST00000333837,NM_001145110.1;NELL2,missense_variant,p.Glu229Lys,ENST00000550313,;NELL2,non_coding_transcript_exon_variant,,ENST00000549668,;							MODERATE	1453/2451	E485K	NELL2_HUMAN			Transcript		benign(0.11)	.	ENSP00000390680		CCDS8746.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H093843	H093843N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	13	18	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		31			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
SCN4A	0	LGGM	GRCh37	17	62018378	62018378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	20	14	.	.	ENST00000435607.1:c.5264G>T	p.Arg1755Leu	p.R1755L	ENST00000435607	NM_000334.4	1755	cGc/cTc	0	1	1	UPI0000201254	0	NA	ENST00000435607		ENSG00000007314	10591		34	2.05		HGNC	p.R1755L		SCN4A		SNV			1				ENST00000435607	protein_coding	getma.org/?cm=var&var=hg19,17,62018378,C,A&fts=all		PROSITE_profiles:PS50096,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193		R/L		A	medium	5341/7805		getma.org/?cm=msa&ty=f&p=SCN4A_HUMAN&rb=1727&re=1756&var=R1755L	deleterious_low_confidence(0.01)	Q9H3L9_HUMAN			YES	SCN4A,missense_variant,p.Arg1755Leu,ENST00000578147,;SCN4A,missense_variant,p.Arg1755Leu,ENST00000435607,NM_000334.4;							MODERATE	5264/5511	R1755L	SCN4A_HUMAN			Transcript		possibly_damaging(0.593)	.	ENSP00000396320		CCDS45761.1			1	
ZNF600	0	LGGM	GRCh37	19	53268905	53268905	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	87	14	.	.	ENST00000338230.3:c.2104G>A	p.Ala702Thr	p.A702T	ENST00000338230	NM_198457.2	702	Gcc/Acc	0	1	1	UPI0000366E5E	0	getma.org/pdb.php?prot=ZN600_HUMAN&from=680&to=705&var=A702T	ENST00000338230		ENSG00000189190	30951		101	0.525		HGNC	p.A702T		ZNF600		SNV							ENST00000338230	protein_coding	getma.org/?cm=var&var=hg19,19,53268905,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF233,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/T		T	neutral	2372/3829		getma.org/?cm=msa&ty=f&p=ZN600_HUMAN&rb=660&re=722&var=A702T	tolerated(0.17)				YES	ZNF600,missense_variant,p.Ala702Thr,ENST00000338230,NM_198457.2;							MODERATE	2104/2169	A702T	ZN600_HUMAN			Transcript		possibly_damaging(0.593)	.	ENSP00000344791		CCDS12856.1			1	
BRWD1	0	LGGM	GRCh37	21	40636521	40636521	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	29	15	.	.	ENST00000333229.2:c.1750C>T	p.Pro584Ser	p.P584S	ENST00000333229	NM_018963.4	584	Cct/Tct	0	1	1	UPI0000163C12	0	NA	ENST00000333229		ENSG00000185658	12760		44	3.27		HGNC	p.P584S		BRWD1		SNV							ENST00000380800	protein_coding	getma.org/?cm=var&var=hg19,21,40636521,G,A&fts=all		hmmpanther:PTHR16266,hmmpanther:PTHR16266:SF26		P/S		A	medium	2078/10141		getma.org/?cm=msa&ty=f&p=BRWD1_HUMAN&rb=498&re=697&var=P584S	deleterious(0)				YES	BRWD1,missense_variant,p.Pro584Ser,ENST00000342449,NM_033656.3;BRWD1,missense_variant,p.Pro584Ser,ENST00000333229,NM_018963.4;BRWD1,missense_variant,p.Pro584Ser,ENST00000380800,;BRWD1,missense_variant,p.Pro296Ser,ENST00000455867,;BRWD1,missense_variant,p.Pro48Ser,ENST00000446924,;BRWD1,missense_variant,p.Pro296Ser,ENST00000412604,;BRWD1,missense_variant,p.Pro296Ser,ENST00000445668,;BRWD1,3_prime_UTR_variant,,ENST00000445245,;BRWD1,intron_variant,,ENST00000430093,;							MODERATE	1750/6963	P584S	BRWD1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000330753		CCDS13662.1			1	
HOMER1	0	LGGM	GRCh37	5	78671942	78671942	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	44	16	.	.	ENST00000334082.6:c.955C>G	p.Gln319Glu	p.Q319E	ENST00000334082	NM_004272.4	319	Caa/Gaa	0	1	1	UPI000006D8F2	0	getma.org/pdb.php?prot=HOME1_HUMAN&from=308&to=354&var=Q319E	ENST00000334082		ENSG00000152413	17512		60	1.75		HGNC	p.Q189E		HOMER1		SNV							ENST00000282260	protein_coding	getma.org/?cm=var&var=hg19,5,78671942,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10918:SF3,hmmpanther:PTHR10918,Superfamily_domains:SSF57997		Q/E		C	low	2398/5881		getma.org/?cm=msa&ty=f&p=HOME1_HUMAN&rb=308&re=354&var=Q319E	deleterious(0.01)				YES	HOMER1,missense_variant,p.Gln319Glu,ENST00000334082,NM_004272.4;HOMER1,missense_variant,p.Gln189Glu,ENST00000282260,NM_001277077.1;HOMER1,missense_variant,p.Gln145Glu,ENST00000535690,;HOMER1,3_prime_UTR_variant,,ENST00000508576,NM_001277078.1;HOMER1,non_coding_transcript_exon_variant,,ENST00000460741,;							MODERATE	955/1065	Q319E	HOME1_HUMAN			Transcript		benign(0.086)	.	ENSP00000334382		CCDS43335.1			1	
USP13	0	LGGM	GRCh37	3	179458057	179458057	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	26	16	.	.	ENST00000263966.3:c.1277C>T	p.Pro426Leu	p.P426L	ENST00000263966	NM_003940.2	426	cCg/cTg	0	1	1	UPI000006DC10	0	getma.org/pdb.php?prot=UBP13_HUMAN&from=333&to=858&var=P426L	ENST00000263966		ENSG00000058056	12611		42	3.29		HGNC	p.P361L	rs766966080	USP13		SNV							ENST00000496897	protein_coding	getma.org/?cm=var&var=hg19,3,179458057,C,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF426,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001		P/L		T	medium	1748/8323	1.50E-05	getma.org/?cm=msa&ty=f&p=UBP13_HUMAN&rb=333&re=858&var=P426L	deleterious(0)				YES	USP13,missense_variant,p.Pro426Leu,ENST00000263966,NM_003940.2;USP13,missense_variant,p.Pro361Leu,ENST00000496897,;USP13,missense_variant,p.Pro72Leu,ENST00000497155,;USP13,non_coding_transcript_exon_variant,,ENST00000482333,;							MODERATE	1277/2592	P426L	UBP13_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000263966	8.24E-06	CCDS3235.1			1	
DCAF4L2	0	LGGM	GRCh37	8	88885470	88885470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	44	17	.	.	ENST00000319675.3:c.730C>T	p.Arg244Cys	p.R244C	ENST00000319675	NM_152418.3	244	Cgc/Tgc	0	1	1	UPI0000072860	0	NA	ENST00000319675		ENSG00000176566	26657		61	2.085		HGNC	p.R244C	rs768543194	DCAF4L2	6.06E-05	SNV							ENST00000319675	protein_coding	getma.org/?cm=var&var=hg19,8,88885470,G,A&fts=all		hmmpanther:PTHR22847:SF401,hmmpanther:PTHR22847,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		R/C		A	medium	827/3324		getma.org/?cm=msa&ty=f&p=DC4L2_HUMAN&rb=201&re=261&var=R244C	tolerated(0.06)	Q8N7W3_HUMAN			YES	DCAF4L2,missense_variant,p.Arg244Cys,ENST00000319675,NM_152418.3;							MODERATE	730/1188	R244C	DC4L2_HUMAN			Transcript		benign(0.117)	.	ENSP00000316496	8.24E-06	CCDS6245.1			1	
OR6K2	0	LGGM	GRCh37	1	158670151	158670151	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	39	18	.	.	ENST00000359610.2:c.292C>T	p.Leu98=	p.L98=	ENST00000359610	NM_001005279.1	98	Ctg/Ttg	0	1	1	UPI000004B208	0		ENST00000359610		ENSG00000196171	15029		57			HGNC	p.L98L	rs748218001,COSM1491828	OR6K2		SNV						0,1	ENST00000359610	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF55,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		336/1118							YES	OR6K2,synonymous_variant,p.=,ENST00000359610,NM_001005279.1;OR6K1P,upstream_gene_variant,,ENST00000456766,;	0.000116				0,1		LOW	292/975		OR6K2_HUMAN			Transcript			.	ENSP00000352626	8.24E-06	CCDS30902.1			1	
PCDH20	0	LGGM	GRCh37	13	61986822	61986822	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	30	18	.	.	ENST00000409186.1:c.1410T>C	p.Asp470=	p.D470=	ENST00000409186		470	gaT/gaC	0	1	1	UPI000007371F	0		ENST00000409186		ENSG00000197991	14257		48			HGNC	p.D470D		PCDH20		SNV							ENST00000409204	protein_coding			Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF24,SMART_domains:SM00112,Superfamily_domains:SSF49313		D		G		3516/6347				B3KSZ7_HUMAN			YES	PCDH20,synonymous_variant,p.=,ENST00000409186,;PCDH20,synonymous_variant,p.=,ENST00000409204,NM_022843.3;							LOW	1410/2856		PCD20_HUMAN			Transcript			.	ENSP00000386653		CCDS9442.2			1	
KIF15	0	LGGM	GRCh37	3	44844473	44844473	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	32	19	.	.	ENST00000326047.4:c.1677A>G	p.Lys559=	p.K559=	ENST00000326047	NM_020242.2	559	aaA/aaG	0	1	1	UPI000006DB0E	0		ENST00000326047		ENSG00000163808	17273		51			HGNC	p.K331K		KIF15		SNV							ENST00000481166	protein_coding			hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115		K		G		1826/4842				D6RCT7_HUMAN			YES	KIF15,synonymous_variant,p.=,ENST00000326047,NM_020242.2;KIF15,synonymous_variant,p.=,ENST00000425755,;KIF15,synonymous_variant,p.=,ENST00000481166,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,non_coding_transcript_exon_variant,,ENST00000493134,;							LOW	1677/4167		KIF15_HUMAN			Transcript			.	ENSP00000324020		CCDS33744.1			1	
GOLGA4	0	LGGM	GRCh37	3	37369239	37369239	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	76	19	.	.	ENST00000356847.4:c.5928A>G	p.Arg1976=	p.R1976=	ENST00000356847	NM_001172713.1	1976	cgA/cgG	0	1		UPI000012B8DE	0		ENST00000361924		ENSG00000144674	4427		95			HGNC	p.R1825R		GOLGA4		SNV							ENST00000437131	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327		R		G		6236/7772				A8K3D5_HUMAN				GOLGA4,synonymous_variant,p.=,ENST00000361924,NM_002078.4;GOLGA4,synonymous_variant,p.=,ENST00000356847,NM_001172713.1;GOLGA4,synonymous_variant,p.=,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,upstream_gene_variant,,ENST00000498250,;GOLGA4,downstream_gene_variant,,ENST00000497537,;							LOW	5862/6693		GOGA4_HUMAN			Transcript			.	ENSP00000354486		CCDS2666.1			1	
PRKD1	0	LGGM	GRCh37	14	30068888	30068888	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	50	20	.	.	ENST00000331968.5:c.2041C>T	p.His681Tyr	p.H681Y	ENST00000331968	NM_002742.2	681	Cac/Tac	0	1	1	UPI0000456761	0	getma.org/pdb.php?prot=KPCD1_HUMAN&from=585&to=839&var=H681Y	ENST00000331968		ENSG00000184304	9407		70	1.255		HGNC	p.H681Y		PRKD1		SNV			1				ENST00000331968	protein_coding	getma.org/?cm=var&var=hg19,14,30068888,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000552,PROSITE_profiles:PS50011,hmmpanther:PTHR22968,SMART_domains:SM00220,Superfamily_domains:SSF56112		H/Y		A	low	2271/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=585&re=839&var=H681Y	deleterious(0)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.His681Tyr,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.His689Tyr,ENST00000415220,;PRKD1,upstream_gene_variant,,ENST00000490795,;							MODERATE	2041/2739	H681Y	KPCD1_HUMAN			Transcript		benign(0.317)	.	ENSP00000333568		CCDS9637.1			1	
TRIM33	0	LGGM	GRCh37	1	114942132	114942132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	71	20	.	.	ENST00000358465.2:c.3067G>T	p.Asp1023Tyr	p.D1023Y	ENST00000358465	NM_015906.3	1023	Gac/Tac	0	1	1	UPI000013D8CD	0	getma.org/pdb.php?prot=TRI33_HUMAN&from=966&to=1051&var=D1023Y	ENST00000358465		ENSG00000197323	16290		91	3.095		HGNC	p.D1023Y		TRIM33		SNV			1				ENST00000369543	protein_coding	getma.org/?cm=var&var=hg19,1,114942132,C,A&fts=all		Gene3D:1.20.920.10,Pfam_domain:PF00439,Prints_domain:PR00503,PROSITE_profiles:PS50014,SMART_domains:SM00297,Superfamily_domains:SSF47370		D/Y		A	medium	3151/8339		getma.org/?cm=msa&ty=f&p=TRI33_HUMAN&rb=966&re=1051&var=D1023Y	deleterious(0)				YES	TRIM33,missense_variant,p.Asp1023Tyr,ENST00000358465,NM_015906.3;TRIM33,missense_variant,p.Asp1023Tyr,ENST00000369543,NM_033020.2;TRIM33,missense_variant,p.Asp655Tyr,ENST00000450349,;TRIM33,missense_variant,p.Asp784Tyr,ENST00000448034,;TRIM33,non_coding_transcript_exon_variant,,ENST00000478032,;TRIM33,downstream_gene_variant,,ENST00000476908,;TRIM33,upstream_gene_variant,,ENST00000492227,;							MODERATE	3067/3384	D1023Y	TRI33_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000351250		CCDS872.1			1	
ZNF726	0	LGGM	GRCh37	19	24116090	24116090	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	43	20	.	.	ENST00000594466.1:c.1172A>T	p.His391Leu	p.H391L	ENST00000594466	NM_001244038.1	391	cAc/cTc	0	1	1	UPI0002255F7F	0		ENST00000594466		ENSG00000213967	32462		63			HGNC	p.H391L		ZNF726		SNV							ENST00000594466	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF153,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/L		T		1277/2473			deleterious(0.01)	M0R0X8_HUMAN			YES	ZNF726,missense_variant,p.His391Leu,ENST00000594466,NM_001244038.1;ZNF726,missense_variant,p.His391Leu,ENST00000322487,;ZNF726,intron_variant,,ENST00000575986,;ZNF726,intron_variant,,ENST00000334589,;CTB-92J24.3,intron_variant,,ENST00000596326,;CTB-92J24.2,downstream_gene_variant,,ENST00000594230,;ZNF92P3,upstream_gene_variant,,ENST00000596594,;							MODERATE	1172/1851					Transcript		possibly_damaging(0.63)	.	ENSP00000471516		CCDS59372.1			1	
GAD2	0	LGGM	GRCh37	10	26569998	26569998	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	41	21	.	.	ENST00000376261.3:c.1218T>A	p.Ala406=	p.A406=	ENST00000376261	NM_001134366.1	406	gcT/gcA	0	1		UPI0000033835	0		ENST00000259271		ENSG00000136750	4093		62			HGNC	p.A406A	COSM683560	GAD2		SNV						1	ENST00000259271	protein_coding			hmmpanther:PTHR11999,hmmpanther:PTHR11999:SF77,PROSITE_patterns:PS00392,Pfam_domain:PF00282,Gene3D:3.40.640.10,Superfamily_domains:SSF53383		A		A		1363/2462				Q9UGI5_HUMAN,Q5VZ30_HUMAN				GAD2,synonymous_variant,p.=,ENST00000376261,NM_001134366.1;GAD2,synonymous_variant,p.=,ENST00000259271,NM_000818.2;					1		LOW	1218/1758		DCE2_HUMAN			Transcript			.	ENSP00000259271		CCDS7149.1			1	
SYTL2	0	LGGM	GRCh37	11	85416000	85416000	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	62	21	.	.	ENST00000354566.3:c.3189G>A	p.Lys1063=	p.K1063=	ENST00000354566	NM_206927.2	1063	aaG/aaA	0	1		UPI0001AADE5A	0		ENST00000528231		ENSG00000137501	15585		83			HGNC	p.K127K		SYTL2		SNV							ENST00000533892	protein_coding			Superfamily_domains:SSF49562,SMART_domains:SM00239,Pfam_domain:PF00168,Gene3D:2.60.40.150,hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024,PROSITE_profiles:PS50004		K		T		2453/3536				Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,synonymous_variant,p.=,ENST00000359152,NM_206928.2;SYTL2,synonymous_variant,p.=,ENST00000525423,;SYTL2,synonymous_variant,p.=,ENST00000354566,NM_206927.2;SYTL2,synonymous_variant,p.=,ENST00000316356,;SYTL2,synonymous_variant,p.=,ENST00000389960,NM_032943.3;SYTL2,synonymous_variant,p.=,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,synonymous_variant,p.=,ENST00000527523,;SYTL2,synonymous_variant,p.=,ENST00000524452,;SYTL2,synonymous_variant,p.=,ENST00000525702,NM_032379.3;SYTL2,synonymous_variant,p.=,ENST00000530351,;SYTL2,synonymous_variant,p.=,ENST00000389958,NM_206930.2;SYTL2,synonymous_variant,p.=,ENST00000529581,NM_206929.2;SYTL2,synonymous_variant,p.=,ENST00000533892,NM_001162952.1;SYTL2,synonymous_variant,p.=,ENST00000533057,;SYTL2,synonymous_variant,p.=,ENST00000527794,;SYTL2,downstream_gene_variant,,ENST00000526999,;SYTL2,downstream_gene_variant,,ENST00000529534,;SYTL2,downstream_gene_variant,,ENST00000524911,;SYTL2,downstream_gene_variant,,ENST00000532221,;SYTL2,downstream_gene_variant,,ENST00000530894,;SYTL2,3_prime_UTR_variant,,ENST00000389959,;SYTL2,3_prime_UTR_variant,,ENST00000532995,;SYTL2,non_coding_transcript_exon_variant,,ENST00000529662,;SYTL2,upstream_gene_variant,,ENST00000531496,;							LOW	2175/2805		SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
KCNA1	0	LGGM	GRCh37	12	5021759	5021759	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	129	21	.	.	ENST00000382545.3:c.1215T>A	p.Pro405=	p.P405=	ENST00000382545	NM_000217.2	405	ccT/ccA	0	1	1	UPI000013C8E0	0		ENST00000382545		ENSG00000111262	6218		150			HGNC	p.P405P		KCNA1		SNV			1				ENST00000382545	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF24,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		P		A		2322/7976							YES	KCNA1,synonymous_variant,p.=,ENST00000382545,NM_000217.2;KCNA1,intron_variant,,ENST00000543874,;KCNA1,intron_variant,,ENST00000541095,;							LOW	1215/1488		KCNA1_HUMAN			Transcript			.	ENSP00000371985		CCDS8535.1			1	
ECI2	0	LGGM	GRCh37	6	4133844	4133844	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	52	22	.	.	ENST00000380118.3:c.152A>T	p.Lys51Ile	p.K51I	ENST00000380118		51	aAa/aTa	0	1	1	UPI000004ECA9	0	getma.org/pdb.php?prot=ECI2_HUMAN&from=39&to=123&var=K51I	ENST00000380118		ENSG00000198721	14601		74	3.495		HGNC	p.K21I	COSM3662536,COSM3662535	ECI2		SNV						1,1	ENST00000465828	protein_coding	getma.org/?cm=var&var=hg19,6,4133844,T,A&fts=all		Gene3D:1.20.80.10,Pfam_domain:PF00887,Prints_domain:PR00689,PROSITE_profiles:PS51228,hmmpanther:PTHR23310,hmmpanther:PTHR23310:SF55,Superfamily_domains:SSF47027		K/I		A	medium	189/1407		getma.org/?cm=msa&ty=f&p=ECI2_HUMAN&rb=39&re=123&var=K51I	deleterious(0.01)	C9J000_HUMAN,B4DLL3_HUMAN			YES	ECI2,missense_variant,p.Lys21Ile,ENST00000465828,;ECI2,missense_variant,p.Lys51Ile,ENST00000380118,;ECI2,missense_variant,p.Lys21Ile,ENST00000380125,NM_001166010.1;ECI2,missense_variant,p.Lys21Ile,ENST00000361538,NM_006117.2;ECI2,missense_variant,p.Lys98Ile,ENST00000495548,;ECI2,5_prime_UTR_variant,,ENST00000413766,NM_206836.2;C6orf201,downstream_gene_variant,,ENST00000380175,NM_001085401.2;C6orf201,downstream_gene_variant,,ENST00000333388,;RP3-400B16.1,upstream_gene_variant,,ENST00000427049,;RP3-400B16.4,upstream_gene_variant,,ENST00000527831,;C6orf201,downstream_gene_variant,,ENST00000496987,;ECI2,missense_variant,p.Lys51Ile,ENST00000380120,;ECI2,missense_variant,p.Lys21Ile,ENST00000496241,;ECI2,missense_variant,p.Lys51Ile,ENST00000478266,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;ECI2,non_coding_transcript_exon_variant,,ENST00000489086,;C6orf201,downstream_gene_variant,,ENST00000436110,;C6orf201,downstream_gene_variant,,ENST00000427996,;C6orf201,downstream_gene_variant,,ENST00000451679,;					1,1		MODERATE	152/1185	K51I	ECI2_HUMAN			Transcript		possibly_damaging(0.783)	.	ENSP00000369461		CCDS43420.2			1	
MUC4	0	LGGM	GRCh37	3	195510882	195510882	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	124	26	.	.	ENST00000463781.3:c.7569A>C	p.Thr2523=	p.T2523=	ENST00000463781	NM_018406.6	2523	acA/acC	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		150			HGNC	p.T2523T		MUC4		SNV							ENST00000480843	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		T		G		8029/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;							LOW	7569/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
OR4E2	0	LGGM	GRCh37	14	22133654	22133654	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	82	26	.	.	ENST00000408935.1:c.358T>A	p.Tyr120Asn	p.Y120N	ENST00000408935	NM_001001912.1	120	Tat/Aat	0	1	1	UPI0000041D88	0	getma.org/pdb.php?prot=OR4E2_HUMAN&from=1&to=138&var=Y120N	ENST00000408935		ENSG00000221977	8297		108	3.66		HGNC	p.Y120N		OR4E2		SNV							ENST00000408935	protein_coding	getma.org/?cm=var&var=hg19,14,22133654,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF160,hmmpanther:PTHR26451,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		Y/N		A	high	358/942		getma.org/?cm=msa&ty=f&p=OR4E2_HUMAN&rb=1&re=138&var=Y120N	deleterious(0)				YES	OR4E2,missense_variant,p.Tyr120Asn,ENST00000408935,NM_001001912.1;OR4E1,downstream_gene_variant,,ENST00000413808,;OR4E1,downstream_gene_variant,,ENST00000303519,;							MODERATE	358/942	Y120N	OR4E2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386195		CCDS41916.1			1	
ITSN1	0	LGGM	GRCh37	21	35183418	35183418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	64	26	.	.	ENST00000381318.3:c.2459C>A	p.Thr820Lys	p.T820K	ENST00000381318	NM_003024.2	820	aCa/aAa	0	1	1	UPI00001403C6	0	NA	ENST00000381318		ENSG00000205726	6183		90	1.245		HGNC	p.T820K		ITSN1		SNV							ENST00000399355	protein_coding	getma.org/?cm=var&var=hg19,21,35183418,C,A&fts=all		hmmpanther:PTHR11216:SF68,hmmpanther:PTHR11216		T/K		A	low	2747/17015		getma.org/?cm=msa&ty=f&p=ITSN1_HUMAN&rb=799&re=918&var=T820K	tolerated(0.51)	D6PAW2_HUMAN,C9JXS9_HUMAN,C9J1A4_HUMAN			YES	ITSN1,missense_variant,p.Thr820Lys,ENST00000381318,NM_003024.2;ITSN1,missense_variant,p.Thr820Lys,ENST00000381285,;ITSN1,missense_variant,p.Thr815Lys,ENST00000399367,;ITSN1,missense_variant,p.Thr820Lys,ENST00000381291,NM_001001132.1;ITSN1,missense_variant,p.Thr815Lys,ENST00000399352,;ITSN1,missense_variant,p.Thr815Lys,ENST00000399349,;ITSN1,missense_variant,p.Thr815Lys,ENST00000399326,;ITSN1,missense_variant,p.Thr815Lys,ENST00000437442,;ITSN1,missense_variant,p.Thr820Lys,ENST00000399355,;ITSN1,missense_variant,p.Thr778Lys,ENST00000399353,;ITSN1,missense_variant,p.Thr815Lys,ENST00000379960,;ITSN1,missense_variant,p.Thr815Lys,ENST00000399338,;ITSN1,missense_variant,p.Thr55Lys,ENST00000440794,;AP000304.12,intron_variant,,ENST00000429238,;ITSN1,3_prime_UTR_variant,,ENST00000419241,;ITSN1,upstream_gene_variant,,ENST00000465143,;							MODERATE	2459/5166	T820K	ITSN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000370719		CCDS33545.1			1	
OR10A2	0	LGGM	GRCh37	11	6891793	6891793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	66	27	.	.	ENST00000307322.4:c.808C>T	p.Pro270Ser	p.P270S	ENST00000307322	NM_001004460.1	270	Ccc/Tcc	0	1	1	UPI000015F21C	0	NA	ENST00000307322		ENSG00000170790	8161		93	3.025		HGNC	p.P270S	COSM1703525	OR10A2		SNV						1	ENST00000307322	protein_coding	getma.org/?cm=var&var=hg19,11,6891793,C,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00245,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF90,PROSITE_profiles:PS50262		P/S		T	medium	870/1053		getma.org/?cm=msa&ty=f&p=O10A2_HUMAN&rb=126&re=270&var=P270S	deleterious(0.05)				YES	OR10A2,missense_variant,p.Pro270Ser,ENST00000307322,NM_001004460.1;					1		MODERATE	808/912	P270S	O10A2_HUMAN			Transcript		possibly_damaging(0.687)	.	ENSP00000303862		CCDS31415.1			1	
TRPS1	0	LGGM	GRCh37	8	116426252	116426252	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	44	27	.	.	ENST00000395715.3:c.3884A>T	p.Ter1295LeuextTer5	p.*1295Lext*5	ENST00000395715	NM_014112.2	1295	tAa/tTa	0	1		UPI0000137646	0		ENST00000220888		ENSG00000104447	12340		71			HGNC	p.X1282L		TRPS1		SNV			1				ENST00000220888	protein_coding					*/L		A		4005/5480								TRPS1,stop_lost,p.Ter1295LeuextTer5,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,stop_lost,p.Ter1282LeuextTer5,ENST00000220888,;TRPS1,stop_lost,p.Ter1286LeuextTer5,ENST00000520276,NM_001282902.1;TRPS1,stop_lost,p.Ter1036LeuextTer5,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000518018,;							HIGH	3845/3846		TRPS1_HUMAN			Transcript			.	ENSP00000220888					1	
OBSCN	0	LGGM	GRCh37	1	228433318	228433318	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	23	27	.	.	ENST00000570156.2:c.3962G>A	p.Gly1321Asp	p.G1321D	ENST00000570156	NM_001271223.2	1321	gGc/gAc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=1168&to=1250&var=G1229D	ENST00000422127		ENSG00000154358	15719		50	0.76		HGNC	p.G1229D		OBSCN		SNV							ENST00000422127	protein_coding	getma.org/?cm=var&var=hg19,1,228433318,G,A&fts=all		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		G/D		A	neutral	3730/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=1168&re=1250&var=G1229D						OBSCN,missense_variant,p.Gly1321Asp,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Gly1229Asp,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Gly1229Asp,ENST00000284548,NM_052843.3;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;							MODERATE	3686/23907	G1229D	OBSCN_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000409493		CCDS58065.1			1	
PCDH11X	0	LGGM	GRCh37	X	91133949	91133949	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	21	28	.	.	ENST00000373094.1:c.2710A>G	p.Thr904Ala	p.T904A	ENST00000373094	NM_032968.3	904	Aca/Gca	0	1	1	UPI0000070BD8	0	NA	ENST00000373094		ENSG00000102290	8656		49	1.825		HGNC	p.T904A		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91133949,A,G&fts=all		Pfam_domain:PF08374,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15		T/A		G	low	3555/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=775&re=1001&var=T904A	tolerated(0.14)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Thr904Ala,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Thr904Ala,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Thr904Ala,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Thr904Ala,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Thr904Ala,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Thr904Ala,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Thr904Ala,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Thr904Ala,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Thr904Ala,ENST00000298274,;							MODERATE	2710/4044	T904A	PC11X_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000362186		CCDS14461.1			1	
ZNF90	0	LGGM	GRCh37	19	20216033	20216033	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	76	28	.	.	ENST00000418063.2:c.134T>C	p.Ile45Thr	p.I45T	ENST00000418063	NM_007138.1	45	aTt/aCt	0	1	1	UPI00002376E6	0	NA	ENST00000418063		ENSG00000213988	13165		104	1.235		HGNC	p.I45T		ZNF90		SNV							ENST00000469078	protein_coding	getma.org/?cm=var&var=hg19,19,20216033,T,C&fts=all		Superfamily_domains:0044637,PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF92,SMART_domains:SM00349		I/T		C	low	246/2310		getma.org/?cm=msa&ty=f&p=ZNF90_HUMAN&rb=4&re=75&var=I45T	deleterious(0.01)				YES	ZNF90,missense_variant,p.Ile45Thr,ENST00000418063,NM_007138.1;ZNF90,non_coding_transcript_exon_variant,,ENST00000474284,;ZNF90,missense_variant,p.Ile45Thr,ENST00000469078,;ZNF90,missense_variant,p.Ile45Thr,ENST00000473524,;							MODERATE	134/1806	I45T	ZNF90_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000410466		CCDS46028.1			1	
NCAM1	0	LGGM	GRCh37	11	113076897	113076897	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	70	35	.	.	ENST00000524665.1:c.800T>A	p.Val267Glu	p.V267E	ENST00000524665	NM_000615.6	267	gTg/gAg	0	1		UPI0002065586	0		ENST00000316851		ENSG00000149294	7656		105			HGNC	p.V207E		NCAM1		SNV							ENST00000401611	protein_coding			hmmpanther:PTHR10489:SF34,hmmpanther:PTHR10489,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726,Prints_domain:PR01838		V/E		A		593/5571			deleterious(0)					NCAM1,missense_variant,p.Val198Glu,ENST00000316851,NM_181351.4,NM_001242607.1;NCAM1,missense_variant,p.Val90Glu,ENST00000533760,NM_001242608.1;NCAM1,missense_variant,p.Val267Glu,ENST00000524665,NM_000615.6;NCAM1,missense_variant,p.Val253Glu,ENST00000534015,NM_001076682.3;NCAM1,missense_variant,p.Val207Glu,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,intron_variant,,ENST00000528742,;NCAM1,intron_variant,,ENST00000526427,;NCAM1,downstream_gene_variant,,ENST00000525973,;NCAM1,downstream_gene_variant,,ENST00000529356,;							MODERATE	593/2547					Transcript		probably_damaging(0.987)	.	ENSP00000318472					1	
YLPM1	0	LGGM	GRCh37	14	75248868	75248868	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093843	H093843N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	86	42	.	.	ENST00000325680.7:c.2122G>T	p.Ala708Ser	p.A708S	ENST00000325680	NM_019589.2	708	Gct/Tct	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		128	0		HGNC	p.A513S		YLPM1		SNV							ENST00000238571	protein_coding	getma.org/?cm=var&var=hg19,14,75248868,G,T&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0		A/S		T	neutral	2246/7017		getma.org/?cm=msa&ty=f&p=YLPM1_HUMAN&rb=402&re=540&var=A513S		B4DMQ9_HUMAN			YES	YLPM1,missense_variant,p.Ala708Ser,ENST00000325680,NM_019589.2;YLPM1,missense_variant,p.Ala513Ser,ENST00000238571,;YLPM1,missense_variant,p.Ala708Ser,ENST00000552421,;YLPM1,missense_variant,p.Ala261Ser,ENST00000549293,;							MODERATE	2122/6441	A513S	YLPM1_HUMAN			Transcript		benign(0.033)	.	ENSP00000324463		CCDS45135.1			1	
DMBT1	0	LGGM	GRCh37	10	124389396	124389396	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093843	H093843N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	76	42	.	.	ENST00000368909.3:c.5322T>C	p.Ser1774=	p.S1774=	ENST00000368909	NM_007329.2	1774	agT/agC	0	1		UPI000047021C	0		ENST00000338354		ENSG00000187908	2926		118			HGNC	p.S1774S		DMBT1		SNV			1				ENST00000339871	protein_coding			Superfamily_domains:SSF49854,SMART_domains:SM00042,Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180		S		C		5428/7686				B6V682_HUMAN				DMBT1,synonymous_variant,p.=,ENST00000338354,;DMBT1,synonymous_variant,p.=,ENST00000368909,NM_007329.2;DMBT1,synonymous_variant,p.=,ENST00000368955,NM_017579.2;DMBT1,synonymous_variant,p.=,ENST00000344338,;DMBT1,synonymous_variant,p.=,ENST00000368956,NM_004406.2;DMBT1,synonymous_variant,p.=,ENST00000330163,;DMBT1,synonymous_variant,p.=,ENST00000359586,;							LOW	5322/7242		DMBT1_HUMAN			Transcript			.	ENSP00000342210					1	
PRUNE2	0	LGGM	GRCh37	9	79320017	79320017	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093843	H093843N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	86	49	.	.	ENST00000376718.3:c.7173G>T	p.Pro2391=	p.P2391=	ENST00000376718	NM_015225.2	2391	ccG/ccT	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		135			HGNC	p.P2391P		PRUNE2		SNV							ENST00000376718	protein_coding			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		P		A		7297/12584							YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;							LOW	7173/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
CTAGE9	0	LGGM	GRCh37	6	132030045	132030045	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093843	H093843N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093843N.bam, H093843T.bam	Illumina HiSeq	138	64	.	.	ENST00000314099.8:c.2113T>A	p.Leu705Met	p.L705M	ENST00000314099	NM_001145659.1	705	Ttg/Atg	0	1	1	UPI0000073347	0	NA	ENST00000314099		ENSG00000236761	37275		202	2.77		HGNC	p.L705M		CTAGE9		SNV							ENST00000314099	protein_coding	getma.org/?cm=var&var=hg19,6,132030045,A,T&fts=all		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF39,Low_complexity_(Seg):seg		L/M		T	medium	2162/2626		getma.org/?cm=msa&ty=f&p=CTGE9_HUMAN&rb=1&re=775&var=L705M	tolerated(0.06)				YES	CTAGE9,missense_variant,p.Leu705Met,ENST00000314099,NM_001145659.1;ENPP3,intron_variant,,ENST00000414305,;ENPP3,intron_variant,,ENST00000357639,NM_005021.3;ENPP3,intron_variant,,ENST00000358229,;							MODERATE	2113/2334	L705M	CTGE9_HUMAN			Transcript		benign(0.187)	.	ENSP00000395587		CCDS47475.1			1	
KIAA1875	0	LGGM	GRCh37	8	145163759	145163759	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	7	2	.	.	ENST00000323662.8:c.790C>A	p.Arg264Ser	p.R264S	ENST00000323662		264	Cgc/Agc	0	1	1	UPI000173AA02	0		ENST00000323662		ENSG00000179698	26959		9			HGNC	p.R264S		KIAA1875		SNV							ENST00000323662	protein_coding			hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF374,Superfamily_domains:0047732		R/S		A		815/6916			tolerated(0.15)				YES	KIAA1875,missense_variant,p.Arg264Ser,ENST00000323662,;SHARPIN,upstream_gene_variant,,ENST00000398712,NM_030974.3;MAF1,downstream_gene_variant,,ENST00000534585,;MAF1,downstream_gene_variant,,ENST00000322428,NM_032272.4;MAF1,downstream_gene_variant,,ENST00000532522,;MAF1,downstream_gene_variant,,ENST00000527058,;MAF1,downstream_gene_variant,,ENST00000527572,;MAF1,downstream_gene_variant,,ENST00000534811,;KIAA1875,upstream_gene_variant,,ENST00000533108,;SHARPIN,upstream_gene_variant,,ENST00000533948,;SHARPIN,upstream_gene_variant,,ENST00000534242,;SHARPIN,upstream_gene_variant,,ENST00000533184,;KIAA1875,missense_variant,p.Arg264Ser,ENST00000534167,;KIAA1875,upstream_gene_variant,,ENST00000528691,;KIAA1875,upstream_gene_variant,,ENST00000525150,;KIAA1875,upstream_gene_variant,,ENST00000529209,;SHARPIN,upstream_gene_variant,,ENST00000359551,;SHARPIN,upstream_gene_variant,,ENST00000534435,;							MODERATE	790/4869		K1875_HUMAN			Transcript		benign(0.074)	.	ENSP00000320648					1	
ERBB2	0	LGGM	GRCh37	17	37872671	37872671	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	6	2	.	.	ENST00000269571.5:c.1631G>T	p.Cys544Phe	p.C544F	ENST00000269571		544	tGc/tTc	0	1	1	UPI000003F55F	0	getma.org/pdb.php?prot=ERBB2_HUMAN&from=487&to=686&var=C544F	ENST00000269571		ENSG00000141736	3430		8	3.9		HGNC	p.C514F		ERBB2		SNV			1				ENST00000406381	protein_coding	getma.org/?cm=var&var=hg19,17,37872671,G,T&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF137,Gene3D:2.10.220.10,Pfam_domain:PF14843,SMART_domains:SM00261,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF57184		C/F		T	high	1790/4545		getma.org/?cm=msa&ty=f&p=ERBB2_HUMAN&rb=487&re=686&var=C544F	deleterious(0)	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN			YES	ERBB2,missense_variant,p.Cys514Phe,ENST00000406381,NM_001005862.1;ERBB2,missense_variant,p.Cys514Phe,ENST00000584601,;ERBB2,missense_variant,p.Cys514Phe,ENST00000540147,NM_004448.2;ERBB2,missense_variant,p.Cys544Phe,ENST00000269571,;ERBB2,missense_variant,p.Cys529Phe,ENST00000541774,;ERBB2,missense_variant,p.Cys544Phe,ENST00000584450,;ERBB2,missense_variant,p.Cys268Phe,ENST00000445658,;ERBB2,missense_variant,p.Cys514Phe,ENST00000578199,;ERBB2,missense_variant,p.Cys514Phe,ENST00000540042,;ERBB2,upstream_gene_variant,,ENST00000580074,;ERBB2,upstream_gene_variant,,ENST00000582818,;ERBB2,downstream_gene_variant,,ENST00000578502,;ERBB2,3_prime_UTR_variant,,ENST00000578373,;ERBB2,non_coding_transcript_exon_variant,,ENST00000583038,;ERBB2,non_coding_transcript_exon_variant,,ENST00000582788,;ERBB2,downstream_gene_variant,,ENST00000584908,;ERBB2,downstream_gene_variant,,ENST00000582648,;ERBB2,upstream_gene_variant,,ENST00000578630,;ERBB2,upstream_gene_variant,,ENST00000584684,;							MODERATE	1631/3768	C544F	ERBB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269571		CCDS32642.1			1	
KLF7	0	LGGM	GRCh37	2	207988924	207988924	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	18	2	.	.	ENST00000309446.6:c.307A>C	p.Lys103Gln	p.K103Q	ENST00000309446	NM_003709.3	103	Aag/Cag	0	1	1	UPI0000042958	0	NA	ENST00000309446		ENSG00000118263	6350		20	0.695		HGNC	p.K103Q		KLF7		SNV							ENST00000426163	protein_coding	getma.org/?cm=var&var=hg19,2,207988924,T,G&fts=all		hmmpanther:PTHR23223:SF2,hmmpanther:PTHR23223		K/Q		G	neutral	684/8362		getma.org/?cm=msa&ty=f&p=KLF7_HUMAN&rb=1&re=200&var=K103Q	tolerated(0.19)	Q53TP3_HUMAN,Q4ZG79_HUMAN,E7EUU0_HUMAN,E7EQY2_HUMAN			YES	KLF7,missense_variant,p.Lys103Gln,ENST00000309446,NM_003709.3;KLF7,missense_variant,p.Lys70Gln,ENST00000421199,NM_001270943.1;KLF7,missense_variant,p.Lys103Gln,ENST00000423015,NM_001270942.1;KLF7,missense_variant,p.Lys75Gln,ENST00000412414,NM_001270944.1;KLF7,missense_variant,p.Lys103Gln,ENST00000426163,;KLF7,missense_variant,p.Lys75Gln,ENST00000435602,;KLF7,intron_variant,,ENST00000458272,;KLF7,downstream_gene_variant,,ENST00000457962,;KLF7-IT1,upstream_gene_variant,,ENST00000428777,;KLF7,intron_variant,,ENST00000467833,;KLF7,downstream_gene_variant,,ENST00000451244,;							MODERATE	307/909	K103Q	KLF7_HUMAN			Transcript		possibly_damaging(0.68)	.	ENSP00000309570		CCDS2373.1			1	
TMEM179	0	LGGM	GRCh37	14	105063382	105063382	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	13	2	.	.	ENST00000341595.3:c.388G>T	p.Val130Leu	p.V130L	ENST00000341595	NM_207379	130	Gtg/Ttg	0	1		UPI00001AFA94	0	NA	ENST00000556573		ENSG00000258986	20137		15	0.895		HGNC	p.V130L		TMEM179		SNV							ENST00000556573	protein_coding	getma.org/?cm=var&var=hg19,14,105063382,C,A&fts=all		hmmpanther:PTHR31872,hmmpanther:PTHR31872:SF2,Transmembrane_helices:TMhelix		V/L		A	low	630/1430		getma.org/?cm=msa&ty=f&p=T179A_HUMAN&rb=1&re=231&var=V130L	tolerated(0.53)					TMEM179,missense_variant,p.Val130Leu,ENST00000341595,NM_207379;TMEM179,missense_variant,p.Val130Leu,ENST00000556573,NM_001286389.1;TMEM179,missense_variant,p.Val130Leu,ENST00000415614,;TMEM179,upstream_gene_variant,,ENST00000556320,;							MODERATE	388/702	V130L	T179A_HUMAN			Transcript		benign(0.037)	.	ENSP00000450958		CCDS66723.1			1	
LGALS9C	0	LGGM	GRCh37	17	18389402	18389402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	43	3	.	.	ENST00000328114.6:c.286G>T	p.Gly96Trp	p.G96W	ENST00000328114	NM_001040078.2	96	Ggg/Tgg	0	1	1	UPI00006C1768	0	getma.org/pdb.php?prot=LEG9C_HUMAN&from=16&to=147&var=G96W	ENST00000328114		ENSG00000171916	33874		46	4.18		HGNC	p.G96W		LGALS9C		SNV							ENST00000582333	protein_coding	getma.org/?cm=var&var=hg19,17,18389402,G,T&fts=all		PROSITE_profiles:PS51304,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91,Gene3D:2.60.120.200,Pfam_domain:PF00337,SMART_domains:SM00908,SMART_domains:SM00276,Superfamily_domains:SSF49899		G/W		T	high	367/1730		getma.org/?cm=msa&ty=f&p=LEG9C_HUMAN&rb=16&re=147&var=G96W	deleterious(0)	C9JHN9_HUMAN			YES	LGALS9C,missense_variant,p.Gly96Trp,ENST00000328114,NM_001040078.2;LGALS9C,missense_variant,p.Gly96Trp,ENST00000583322,;LGALS9C,missense_variant,p.Gly96Trp,ENST00000581545,;LGALS9C,missense_variant,p.Gly8Trp,ENST00000412421,;LGALS9C,missense_variant,p.Gly96Trp,ENST00000584941,;LGALS9C,missense_variant,p.Gly96Trp,ENST00000582333,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000578983,;LGALS9C,missense_variant,p.Gly72Val,ENST00000580674,;LGALS9C,missense_variant,p.Gly72Val,ENST00000577691,;LGALS9C,missense_variant,p.Gly13Trp,ENST00000578563,;LGALS9C,3_prime_UTR_variant,,ENST00000579773,;LGALS9C,non_coding_transcript_exon_variant,,ENST00000584170,;LGALS9C,upstream_gene_variant,,ENST00000584127,;LGALS9C,upstream_gene_variant,,ENST00000577265,;LGALS9C,downstream_gene_variant,,ENST00000582928,;							MODERATE	286/1071	G96W	LEG9C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000329932		CCDS32587.1			1	
SGSM2	0	LGGM	GRCh37	17	2265507	2265507	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	28	3	.	.	ENST00000268989.3:c.401C>A	p.Thr134Lys	p.T134K	ENST00000268989	NM_014853.2	134	aCg/aAg	0	1		UPI00002005DE	0	NA	ENST00000426855		ENSG00000141258	29026		31	2.215		HGNC	p.T134K		SGSM2		SNV							ENST00000268989	protein_coding	getma.org/?cm=var&var=hg19,17,2265507,C,A&fts=all		Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,SMART_domains:SM00593		T/K		A	medium	576/4734		getma.org/?cm=msa&ty=f&p=SGSM2_HUMAN&rb=42&re=189&var=T134K	deleterious(0.02)	I3L1Y7_HUMAN,B9A6J3_HUMAN				SGSM2,missense_variant,p.Thr134Lys,ENST00000268989,NM_014853.2;SGSM2,missense_variant,p.Thr134Lys,ENST00000426855,NM_001098509.1;SGSM2,missense_variant,p.Thr134Lys,ENST00000574563,;SGSM2,missense_variant,p.Thr43Lys,ENST00000574650,;SGSM2,upstream_gene_variant,,ENST00000570431,;SGSM2,missense_variant,p.Thr134Lys,ENST00000573062,;SGSM2,upstream_gene_variant,,ENST00000574857,;SGSM2,upstream_gene_variant,,ENST00000575367,;SGSM2,downstream_gene_variant,,ENST00000572875,;							MODERATE	401/3021	T134K	SGSM2_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000415107		CCDS45570.1			1	
TNRC6A	0	LGGM	GRCh37	16	24826592	24826592	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	18	3	.	.	ENST00000395799.3:c.4797G>A	p.Ser1599=	p.S1599=	ENST00000395799	NM_014494.2	1599	tcG/tcA	0	1	1	UPI000059D33E	0		ENST00000395799		ENSG00000090905	11969		21			HGNC	p.S543S	rs773542201	TNRC6A		SNV							ENST00000450465	protein_coding			hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28		S		A		4926/8438				G8JLL8_HUMAN			YES	TNRC6A,synonymous_variant,p.=,ENST00000395799,NM_014494.2;TNRC6A,synonymous_variant,p.=,ENST00000315183,;TNRC6A,synonymous_variant,p.=,ENST00000450465,;TNRC6A,synonymous_variant,p.=,ENST00000432286,;TNRC6A,upstream_gene_variant,,ENST00000569098,;CTD-2515A14.1,intron_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000477487,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000462400,;TNRC6A,intron_variant,,ENST00000569376,;TNRC6A,upstream_gene_variant,,ENST00000569634,;	0.000232						LOW	4797/5889		TNR6A_HUMAN			Transcript			.	ENSP00000379144	1.65E-05	CCDS10624.2			1	
NPIPB5	0	LGGM	GRCh37	16	22546196	22546196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	8	3	.	.	ENST00000424340.1:c.1892G>A	p.Ser631Asn	p.S631N	ENST00000424340	NM_001135865.1	631	aGc/aAc	0	1	1	UPI000181EF82	0	NA	ENST00000424340		ENSG00000243716	37233		11	0		HGNC	p.S631N		NPIPB5		SNV							ENST00000424340	protein_coding	getma.org/?cm=var&var=hg19,16,22546196,G,A&fts=all		hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		S/N		A	neutral	2171/3801		getma.org/?cm=msa&ty=f&p=NPPL3_HUMAN&rb=576&re=706&var=S590N	tolerated_low_confidence(0.06)	U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,missense_variant,p.Ser631Asn,ENST00000424340,NM_001135865.1;NPIPB5,missense_variant,p.Ser631Asn,ENST00000517539,;NPIPB5,downstream_gene_variant,,ENST00000415833,;NPIPB5,downstream_gene_variant,,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;							MODERATE	1892/3402	S590N	NPIB5_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000440703		CCDS45443.1			1	
NUMA1	0	LGGM	GRCh37	11	71726768	71726768	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	40	3	.	.	ENST00000393695.3:c.1781C>T	p.Ala594Val	p.A594V	ENST00000393695	NM_006185.2	594	gCc/gTc	0	1	1	UPI000013DB8B	0	NA	ENST00000393695		ENSG00000137497	8059		43	1.59		HGNC	p.A594V		NUMA1		SNV			1				ENST00000393695	protein_coding	getma.org/?cm=var&var=hg19,11,71726768,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24,Low_complexity_(Seg):seg		A/V		A	low	2113/7343		getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=281&re=1329&var=A594V		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			YES	NUMA1,missense_variant,p.Ala594Val,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Ala594Val,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Ala594Val,ENST00000542977,;NUMA1,missense_variant,p.Ala594Val,ENST00000537217,;NUMA1,intron_variant,,ENST00000351960,;NUMA1,upstream_gene_variant,,ENST00000541584,;NUMA1,downstream_gene_variant,,ENST00000543937,;NUMA1,downstream_gene_variant,,ENST00000543009,;NUMA1,downstream_gene_variant,,ENST00000544238,;NUMA1,downstream_gene_variant,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000537930,;RP11-849H4.4,non_coding_transcript_exon_variant,,ENST00000502284,;NUMA1,downstream_gene_variant,,ENST00000534987,;NUMA1,downstream_gene_variant,,ENST00000540843,;NUMA1,downstream_gene_variant,,ENST00000536119,;NUMA1,upstream_gene_variant,,ENST00000545721,;NUMA1,upstream_gene_variant,,ENST00000540588,;							MODERATE	1781/6348	A594V	NUMA1_HUMAN			Transcript		benign(0.015)	.	ENSP00000377298		CCDS31633.1			1	
CHPF2	0	LGGM	GRCh37	7	150932380	150932380	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	47	3	.	.	ENST00000035307.2:c.510C>A	p.His170Gln	p.H170Q	ENST00000035307	NM_019015.1	170	caC/caA	0	1	1	UPI000003F537	0	NA	ENST00000035307		ENSG00000033100	29270		50	2.045		HGNC	p.H170Q		CHPF2		SNV							ENST00000035307	protein_coding	getma.org/?cm=var&var=hg19,7,150932380,C,A&fts=all		hmmpanther:PTHR12369:SF14,hmmpanther:PTHR12369		H/Q		A	medium	2023/3973		getma.org/?cm=msa&ty=f&p=CHPF2_HUMAN&rb=1&re=200&var=H170Q	tolerated(0.13)				YES	CHPF2,missense_variant,p.His170Gln,ENST00000035307,NM_019015.1;CHPF2,missense_variant,p.His162Gln,ENST00000495645,NM_001284295.1;SMARCD3,downstream_gene_variant,,ENST00000392811,NM_003078.3;SMARCD3,downstream_gene_variant,,ENST00000262188,NM_001003801.1;SMARCD3,downstream_gene_variant,,ENST00000356800,NM_001003802.1;CHPF2,downstream_gene_variant,,ENST00000482173,;MIR671,upstream_gene_variant,,ENST00000390183,;SMARCD3,downstream_gene_variant,,ENST00000496530,;SMARCD3,downstream_gene_variant,,ENST00000469154,;SMARCD3,downstream_gene_variant,,ENST00000470588,;SMARCD3,downstream_gene_variant,,ENST00000472789,;CHPF2,upstream_gene_variant,,ENST00000465601,;							MODERATE	510/2319	H170Q	CHPF2_HUMAN			Transcript		benign(0.017)	.	ENSP00000035307		CCDS34779.1			1	
KRT83	0	LGGM	GRCh37	12	52714967	52714967	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	24	3	.	.	ENST00000293670.3:c.153C>T	p.Gly51=	p.G51=	ENST00000293670	NM_002282.3	51	ggC/ggT	0	1	1	UPI0000070AF2	0		ENST00000293670		ENSG00000170523	6460		27			HGNC	p.G51G		KRT83		SNV			1				ENST00000293670	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Superfamily_domains:SSF57184		G		A		216/1875				Q8NFV1_HUMAN,Q8N120_HUMAN			YES	KRT83,synonymous_variant,p.=,ENST00000293670,NM_002282.3;							LOW	153/1482		KRT83_HUMAN			Transcript			.	ENSP00000293670		CCDS8823.1			1	
IPO8	0	LGGM	GRCh37	12	30815359	30815359	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	28	3	.	.	ENST00000256079.4:c.1657G>T	p.Glu553Ter	p.E553*	ENST00000256079	NM_006390.3	553	Gag/Tag	0	1	1	UPI000013CEE9	0	NA	ENST00000256079		ENSG00000133704	9853		31	0		HGNC	p.E348X		IPO8		SNV							ENST00000544829	protein_coding	getma.org/?cm=var&var=hg19,12,30815359,C,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10997:SF26,hmmpanther:PTHR10997		E/*		A	NA	1996/5325		NA		F5H009_HUMAN,F5GXT5_HUMAN			YES	IPO8,stop_gained,p.Glu553Ter,ENST00000256079,NM_006390.3;IPO8,stop_gained,p.Glu348Ter,ENST00000544829,NM_001190995.1;							HIGH	1657/3114	E553*	IPO8_HUMAN			Transcript			.	ENSP00000256079		CCDS8719.1			1	
AHSA1	0	LGGM	GRCh37	14	77931984	77931984	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	37	3	.	.	ENST00000216479.3:c.664C>A	p.Leu222Ile	p.L222I	ENST00000216479	NM_012111.2	222	Ctc/Atc	0	1	1	UPI0000127BE0	0	getma.org/pdb.php?prot=AHSA1_HUMAN&from=216&to=332&var=L222I	ENST00000216479		ENSG00000100591	1189		40	1.85		HGNC	p.L222I		AHSA1		SNV							ENST00000216479	protein_coding	getma.org/?cm=var&var=hg19,14,77931984,C,A&fts=all		Superfamily_domains:SSF55961,Pfam_domain:PF08327,Gene3D:3.30.530.20,hmmpanther:PTHR13009:SF7,hmmpanther:PTHR13009		L/I		A	low	824/1402		getma.org/?cm=msa&ty=f&p=AHSA1_HUMAN&rb=216&re=332&var=L222I	deleterious(0)	G3V438_HUMAN			YES	AHSA1,missense_variant,p.Leu222Ile,ENST00000216479,NM_012111.2;AHSA1,missense_variant,p.Leu222Ile,ENST00000535854,;AHSA1,missense_variant,p.Leu87Ile,ENST00000555133,;AHSA1,missense_variant,p.Leu168Ile,ENST00000553374,;AHSA1,intron_variant,,ENST00000555729,;AHSA1,upstream_gene_variant,,ENST00000557476,;SNORA46,upstream_gene_variant,,ENST00000391069,;AHSA1,intron_variant,,ENST00000555457,;AHSA1,missense_variant,p.Leu24Ile,ENST00000556369,;AHSA1,non_coding_transcript_exon_variant,,ENST00000555473,;AHSA1,downstream_gene_variant,,ENST00000556963,;AHSA1,downstream_gene_variant,,ENST00000554156,;AHSA1,downstream_gene_variant,,ENST00000556866,;							MODERATE	664/1017	L222I	AHSA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000216479		CCDS9863.1			1	
MADCAM1	0	LGGM	GRCh37	19	501738	501739	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	novel	by Submitter	H093867	H093867N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	7	5	.	.	ENST00000215637.3:c.784_785insAGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCC	p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer	p.S261_P262insQESPDTTSQEPPDTTS	ENST00000215637	NM_130760.2	246	ccg/ccGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAg	0	1	1	UPI000013C68F	0		ENST00000215637		ENSG00000099866	6765		12			HGNC	p.P246delinsPESPDTTSQEPPDTTSQ	rs770954228	MADCAM1		insertion	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.9059						ENST00000215637	protein_coding			hmmpanther:PTHR14162,hmmpanther:PTHR14162:SF0,Low_complexity_(Seg):seg		P/PESPDTTSQEPPDTTSQ	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:0.8072	GGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA		783-784/1577				B9EGE2_HUMAN			YES	MADCAM1,inframe_insertion,p.Ser42_Pro43insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000587541,;MADCAM1,inframe_insertion,p.Ser261_Pro262insGlnGluSerProAspThrThrSerGlnGluProProAspThrThrSer,ENST00000215637,NM_130760.2;MADCAM1,intron_variant,,ENST00000346144,NM_130762.2;MADCAM1,intron_variant,,ENST00000382683,;AC005775.2,intron_variant,,ENST00000592413,;							MODERATE	737-738/1149		MADCA_HUMAN			Transcript	47		.	ENSP00000215637		CCDS12028.1			1	
MRPL45	0	LGGM	GRCh37	17	36454473	36454473	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	94	4	.	.	ENST00000312513.5:c.125C>A	p.Thr42Lys	p.T42K	ENST00000312513	NM_001278279.1	42	aCa/aAa	0	1	1	UPI000013FDDF	0	NA	ENST00000312513		ENSG00000174100	16651		98	1.7		HGNC	p.T42K		MRPL45		SNV							ENST00000580762	protein_coding	getma.org/?cm=var&var=hg19,17,36454473,C,A&fts=all				T/K		A	low	286/1705		getma.org/?cm=msa&ty=f&p=RM45_HUMAN&rb=1&re=117&var=T42K	tolerated(0.3)				YES	MRPL45,missense_variant,p.Thr42Lys,ENST00000312513,NM_001278279.1,NM_032351.4;MRPL45,missense_variant,p.Thr42Lys,ENST00000582535,;MRPL45,missense_variant,p.Thr42Lys,ENST00000580762,;MRPL45,upstream_gene_variant,,ENST00000581817,;							MODERATE	125/921	T42K	RM45_HUMAN			Transcript		benign(0.064)	.	ENSP00000308901		CCDS11326.1			1	
PNKD	0	LGGM	GRCh37	2	219188103	219188103	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	1	5	.	.	ENST00000273077.4:c.237-16403G>C		*79*	ENST00000273077	NM_015488.4			0	1	1	UPI0000246C7E	0		ENST00000273077		ENSG00000127838	9153		6			HGNC	p.G38A		PNKD		SNV			1				ENST00000258362	protein_coding							C		-/3021							YES	PNKD,missense_variant,p.Gly38Ala,ENST00000258362,NM_022572.4;PNKD,intron_variant,,ENST00000273077,NM_015488.4;AC021016.8,downstream_gene_variant,,ENST00000411433,;							MODIFIER	-/1158		PNKD_HUMAN			Transcript			.	ENSP00000273077		CCDS2411.1			1	
HYDIN	0	LGGM	GRCh37	16	70896101	70896101	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	11	5	.	.	ENST00000393567.2:c.11627A>G	p.Asp3876Gly	p.D3876G	ENST00000393567	NM_001270974.1	3876	gAc/gGc	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		16	1.79		HGNC	p.D3875G		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,70896101,T,C&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		D/G		C	low	11778/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=D3876G		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Asp3876Gly,ENST00000393567,NM_001270974.1;HYDIN,3_prime_UTR_variant,,ENST00000378856,;HYDIN,intron_variant,,ENST00000546257,;							MODERATE	11627/15366	D3876G	HYDIN_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000377197		CCDS59269.1			1	
CENPC	0	LGGM	GRCh37	4	68405615	68405615	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	24	6	.	.	ENST00000273853.6:c.174A>C	p.Ser58=	p.S58=	ENST00000273853	NM_001812.2	58	tcA/tcC	0	1	1	UPI00004135A3	0		ENST00000273853		ENSG00000145241	1854		30			HGNC	p.S58S		CENPC		SNV							ENST00000506882	protein_coding			hmmpanther:PTHR16684,Pfam_domain:PF15622		S		G		425/3885							YES	CENPC,synonymous_variant,p.=,ENST00000273853,NM_001812.2;CENPC,synonymous_variant,p.=,ENST00000506882,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;							LOW	174/2832		CENPC_HUMAN			Transcript			.	ENSP00000273853		CCDS47063.1			1	
ASCC2	0	LGGM	GRCh37	22	30189570	30189570	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	6	6	.	.	ENST00000397771.2:c.1784A>T	p.Glu595Val	p.E595V	ENST00000397771		595	gAg/gTg	0	1		UPI000006E83B	0	NA	ENST00000307790		ENSG00000100325	24103		12	2.165		HGNC	p.E519V		ASCC2		SNV							ENST00000542393	protein_coding	getma.org/?cm=var&var=hg19,22,30189570,T,A&fts=all		hmmpanther:PTHR21494,hmmpanther:PTHR21494:SF0		E/V		A	medium	1898/2793		getma.org/?cm=msa&ty=f&p=ASCC2_HUMAN&rb=510&re=709&var=E595V	deleterious(0)	B1AH59_HUMAN				ASCC2,missense_variant,p.Glu595Val,ENST00000397771,;ASCC2,missense_variant,p.Glu595Val,ENST00000307790,NM_032204.4;ASCC2,missense_variant,p.Glu519Val,ENST00000542393,NM_001242906.1;ASCC2,missense_variant,p.Glu86Val,ENST00000411532,;ASCC2,intron_variant,,ENST00000472433,;ASCC2,downstream_gene_variant,,ENST00000483380,;ASCC2,3_prime_UTR_variant,,ENST00000458594,;ASCC2,non_coding_transcript_exon_variant,,ENST00000487486,;							MODERATE	1784/2274	E595V	ASCC2_HUMAN			Transcript		possibly_damaging(0.774)	.	ENSP00000305502		CCDS13869.1			1	
EVX1	0	LGGM	GRCh37	7	27285969	27285969	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	8	6	.	.	ENST00000496902.4:c.1149C>T	p.Thr383=	p.T383=	ENST00000496902		383	acC/acT	0	1	1	UPI000012A2AD	0		ENST00000496902		ENSG00000106038	3506		14			HGNC	p.T201T		EVX1		SNV							ENST00000535619	protein_coding			hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF246		T		T		1635/2712				B4DQJ0_HUMAN			YES	EVX1,synonymous_variant,p.=,ENST00000496902,;EVX1,synonymous_variant,p.=,ENST00000535619,;EVX1,3_prime_UTR_variant,,ENST00000580535,;EVX1,3_prime_UTR_variant,,ENST00000222761,NM_001989.3;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1-AS,upstream_gene_variant,,ENST00000519218,;EVX1,upstream_gene_variant,,ENST00000518886,;							LOW	1149/1224		EVX1_HUMAN			Transcript			.	ENSP00000419266		CCDS5413.1			1	
ITGAD	0	LGGM	GRCh37	16	31435219	31435219	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	24	7	.	.	ENST00000389202.2:c.3099C>T	p.Ser1033=	p.S1033=	ENST00000389202	NM_005353.2	1033	agC/agT	0	1	1	UPI000004B27A	0		ENST00000389202		ENSG00000156886	6146		31			HGNC	p.S1033S	rs757764435	ITGAD		SNV				9.61E-05			ENST00000389202	protein_coding			Superfamily_domains:SSF69179,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19		S		T		3148/3912	1.50E-05			Q59H14_HUMAN			YES	ITGAD,synonymous_variant,p.=,ENST00000389202,NM_005353.2;COX6A2,downstream_gene_variant,,ENST00000287490,NM_005205.3;COX6A2,downstream_gene_variant,,ENST00000565462,;ITGAD,upstream_gene_variant,,ENST00000567308,;							LOW	3099/3486		ITAD_HUMAN			Transcript			.	ENSP00000373854	1.65E-05	CCDS32438.1			1	
LEO1	0	LGGM	GRCh37	15	52245450	52245450	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	15	9	.	.	ENST00000299601.5:c.1351C>T	p.His451Tyr	p.H451Y	ENST00000299601	NM_138792.2	451	Cat/Tat	0	1	1	UPI0000071CA0	0	NA	ENST00000299601		ENSG00000166477	30401		24	1.37		HGNC	p.H451Y		LEO1		SNV							ENST00000299601	protein_coding	getma.org/?cm=var&var=hg19,15,52245450,G,A&fts=all		hmmpanther:PTHR23146:SF0,hmmpanther:PTHR23146,Pfam_domain:PF04004		H/Y		A	low	1412/2193		getma.org/?cm=msa&ty=f&p=LEO1_HUMAN&rb=325&re=666&var=H451Y	tolerated(0.08)				YES	LEO1,missense_variant,p.His451Tyr,ENST00000299601,NM_138792.2;LEO1,missense_variant,p.His391Tyr,ENST00000315141,NM_001286430.1;MAPK6,intron_variant,,ENST00000560802,;LEO1,non_coding_transcript_exon_variant,,ENST00000558949,;							MODERATE	1351/2001	H451Y	LEO1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000299601		CCDS10146.1			1	
CCNT2	0	LGGM	GRCh37	2	135676509	135676509	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	9	9	.	.	ENST00000264157.5:c.85G>A	p.Glu29Lys	p.E29K	ENST00000264157	NM_058241.2	29	Gag/Aag	0	1	1	UPI000013E228	0	getma.org/pdb.php?prot=CCNT2_HUMAN&from=8&to=148&var=E29K	ENST00000264157		ENSG00000082258	1600		18	1.01		HGNC	p.E29K		CCNT2		SNV							ENST00000295238	protein_coding	getma.org/?cm=var&var=hg19,2,135676509,G,A&fts=all		hmmpanther:PTHR10026:SF43,hmmpanther:PTHR10026,Pfam_domain:PF00134,Gene3D:1.10.472.10,Superfamily_domains:SSF47954		E/K		A	low	115/6917		getma.org/?cm=msa&ty=f&p=CCNT2_HUMAN&rb=8&re=148&var=E29K	tolerated(0.06)				YES	CCNT2,missense_variant,p.Glu29Lys,ENST00000264157,NM_058241.2,NM_001241.3;CCNT2,missense_variant,p.Glu29Lys,ENST00000295238,;CCNT2,5_prime_UTR_variant,,ENST00000537343,;CCNT2,intron_variant,,ENST00000446247,;CCNT2-AS1,upstream_gene_variant,,ENST00000537615,;CCNT2-AS1,upstream_gene_variant,,ENST00000428857,;CCNT2-AS1,upstream_gene_variant,,ENST00000413962,;CCNT2-AS1,upstream_gene_variant,,ENST00000392929,;CCNT2,missense_variant,p.Glu29Lys,ENST00000419781,;CCNT2,missense_variant,p.Glu29Lys,ENST00000452839,;CCNT2,missense_variant,p.Glu29Lys,ENST00000417175,;CCNT2,non_coding_transcript_exon_variant,,ENST00000464932,;CCNT2,non_coding_transcript_exon_variant,,ENST00000475094,;							MODERATE	85/2193	E29K	CCNT2_HUMAN			Transcript		benign(0.07)	.	ENSP00000264157		CCDS2174.1			1	
ADD2	0	LGGM	GRCh37	2	70919643	70919643	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	13	9	.	.	ENST00000264436.4:c.597C>T	p.Ser199=	p.S199=	ENST00000264436	NM_001617.3	199	agC/agT	0	1	1	UPI0000125503	0		ENST00000264436		ENSG00000075340	244		22			HGNC	p.S199S		ADD2		SNV							ENST00000264436	protein_coding			hmmpanther:PTHR10672:SF6,hmmpanther:PTHR10672,Gene3D:3.40.225.10,Pfam_domain:PF00596,SMART_domains:SM01007,Superfamily_domains:SSF53639		S		A		1042/9267				Q96HD4_HUMAN,C9J299_HUMAN,C9J080_HUMAN			YES	ADD2,synonymous_variant,p.=,ENST00000264436,NM_001617.3;ADD2,synonymous_variant,p.=,ENST00000413157,NM_017482.3;ADD2,synonymous_variant,p.=,ENST00000407644,NM_001185054.1;ADD2,synonymous_variant,p.=,ENST00000355733,NM_017488.3;ADD2,synonymous_variant,p.=,ENST00000430656,NM_001185055.1;ADD2,synonymous_variant,p.=,ENST00000456320,;ADD2,synonymous_variant,p.=,ENST00000415348,;ADD2,intron_variant,,ENST00000522886,;ADD2,downstream_gene_variant,,ENST00000425976,;AC007395.3,downstream_gene_variant,,ENST00000457851,;ADD2,synonymous_variant,p.=,ENST00000403045,;							LOW	597/2181		ADDB_HUMAN			Transcript			.	ENSP00000264436		CCDS1906.1			1	
ASPM	0	LGGM	GRCh37	1	197070521	197070521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	22	10	.	.	ENST00000367409.4:c.7860G>T	p.Gln2620His	p.Q2620H	ENST00000367409	NM_018136.4	2620	caG/caT	0	1	1	UPI0000458904	0	NA	ENST00000367409		ENSG00000066279	19048		32	1.05		HGNC	p.Q2620H		ASPM		SNV			1				ENST00000367409	protein_coding	getma.org/?cm=var&var=hg19,1,197070521,C,A&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF115,Low_complexity_(Seg):seg		Q/H		A	low	8117/10887		getma.org/?cm=msa&ty=f&p=ASPM_HUMAN&rb=2552&re=2624&var=Q2620H	tolerated(0.1)				YES	ASPM,missense_variant,p.Gln2620His,ENST00000367409,NM_018136.4;ASPM,intron_variant,,ENST00000294732,NM_001206846.1;ASPM,intron_variant,,ENST00000367408,;							MODERATE	7860/10434	Q2620H	ASPM_HUMAN			Transcript		benign(0.009)	.	ENSP00000356379		CCDS1389.1			1	
SF3B1	0	LGGM	GRCh37	2	198283276	198283276	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	27	10	.	.	ENST00000335508.6:c.452C>G	p.Thr151Ser	p.T151S	ENST00000335508	NM_012433.2	151	aCt/aGt	0	1	1	UPI000013D493	0	NA	ENST00000335508		ENSG00000115524	10768		37	0.74		HGNC	p.T151S		SF3B1		SNV			1				ENST00000335508	protein_coding	getma.org/?cm=var&var=hg19,2,198283276,G,C&fts=all		hmmpanther:PTHR12097		T/S		C	neutral	544/6526		getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=1&re=200&var=T151S	tolerated(0.61)	Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,missense_variant,p.Thr151Ser,ENST00000335508,NM_012433.2;SF3B1,3_prime_UTR_variant,,ENST00000409915,;SF3B1,downstream_gene_variant,,ENST00000487698,;SF3B1,downstream_gene_variant,,ENST00000414963,NM_001005526.1;SF3B1,non_coding_transcript_exon_variant,,ENST00000470268,;SF3B1,non_coding_transcript_exon_variant,,ENST00000482158,;SF3B1,downstream_gene_variant,,ENST00000414174,;							MODERATE	452/3915	T151S	SF3B1_HUMAN			Transcript		benign(0.002)	.	ENSP00000335321		CCDS33356.1			1	
TSHZ3	0	LGGM	GRCh37	19	31768493	31768493	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	17	11	.	.	ENST00000240587.4:c.2206G>A	p.Ala736Thr	p.A736T	ENST00000240587	NM_020856.2	736	Gcc/Acc	0	1	1	UPI0000202000	0	NA	ENST00000240587		ENSG00000121297	30700		28	2.22		HGNC	p.A736T		TSHZ3		SNV							ENST00000240587	protein_coding	getma.org/?cm=var&var=hg19,19,31768493,C,T&fts=all		hmmpanther:PTHR12487,hmmpanther:PTHR12487:SF5		A/T		T	medium	2534/5176		getma.org/?cm=msa&ty=f&p=TSH3_HUMAN&rb=625&re=824&var=A736T	deleterious(0)	A1L0U7_HUMAN			YES	TSHZ3,missense_variant,p.Ala736Thr,ENST00000240587,NM_020856.2;TSHZ3,downstream_gene_variant,,ENST00000560707,;							MODERATE	2206/3246	A736T	TSH3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000240587		CCDS12421.2			1	
TRIM23	0	LGGM	GRCh37	5	64906689	64906689	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	21	11	.	.	ENST00000231524.9:c.827A>T	p.His276Leu	p.H276L	ENST00000231524	NM_001656.3	276	cAt/cTt	0	1	1	UPI0000125DB3	0	NA	ENST00000231524		ENSG00000113595	660		32	1.1		HGNC	p.H276L		TRIM23		SNV							ENST00000274327	protein_coding	getma.org/?cm=var&var=hg19,5,64906689,T,A&fts=all		SMART_domains:SM00502		H/L		A	low	1199/4186		getma.org/?cm=msa&ty=f&p=TRI23_HUMAN&rb=169&re=368&var=H276L	tolerated(0.38)	D6R9E9_HUMAN			YES	TRIM23,missense_variant,p.His276Leu,ENST00000231524,NM_001656.3;TRIM23,missense_variant,p.His276Leu,ENST00000381018,NM_033227.2;TRIM23,missense_variant,p.His276Leu,ENST00000274327,NM_033228.2;TRIM23,splice_region_variant,,ENST00000508808,;TRIM23,3_prime_UTR_variant,,ENST00000506400,;TRIM23,downstream_gene_variant,,ENST00000505205,;							MODERATE	827/1725	H276L	TRI23_HUMAN			Transcript		benign(0.071)	.	ENSP00000231524		CCDS3987.1			1	
DYNLL1	0	LGGM	GRCh37	12	120934408	120934408	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	22	12	.	.	ENST00000392509.2:c.132+52C>T		*44*	ENST00000392509	NM_001037494.1			0	1		UPI0000000991	0		ENST00000242577		ENSG00000088986	15476		34			HGNC	p.P62S		DYNLL1		SNV							ENST00000548214	protein_coding							T		-/720				Q6FGH9_HUMAN,F8VXI7_HUMAN				DYNLL1,missense_variant,p.Pro62Ser,ENST00000550845,;DYNLL1,missense_variant,p.Pro62Ser,ENST00000548214,;DYNLL1,missense_variant,p.Pro62Ser,ENST00000550178,;DYNLL1,intron_variant,,ENST00000392509,NM_001037494.1;DYNLL1,intron_variant,,ENST00000242577,NM_001037495.1,NM_003746.2;DYNLL1,intron_variant,,ENST00000549989,;DYNLL1,intron_variant,,ENST00000392508,;DYNLL1,intron_variant,,ENST00000548342,;DYNLL1,intron_variant,,ENST00000552870,;DYNLL1,downstream_gene_variant,,ENST00000549649,;DYNLL1-AS1,upstream_gene_variant,,ENST00000500741,;DYNLL1,upstream_gene_variant,,ENST00000552316,;							MODIFIER	-/270		DYL1_HUMAN			Transcript			.	ENSP00000242577		CCDS9200.1			1	
KHDRBS2	0	LGGM	GRCh37	6	62887199	62887199	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	19	12	.	.	ENST00000281156.4:c.110G>A	p.Gly37Asp	p.G37D	ENST00000281156	NM_152688.2	37	gGt/gAt	0	1	1	UPI000004D256	0	NA	ENST00000281156		ENSG00000112232	18114		31	0.69		HGNC	p.G37D	rs775435233	KHDRBS2		SNV							ENST00000281156	protein_coding	getma.org/?cm=var&var=hg19,6,62887199,C,T&fts=all		hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34		G/D		T	neutral	389/2332		getma.org/?cm=msa&ty=f&p=KHDR2_HUMAN&rb=1&re=60&var=G37D	tolerated(0.26)				YES	KHDRBS2,missense_variant,p.Gly37Asp,ENST00000281156,NM_152688.2;							MODERATE	110/1050	G37D	KHDR2_HUMAN	0.000203		Transcript		benign(0.003)	.	ENSP00000281156	1.65E-05	CCDS4963.1			1	
TEX36	0	LGGM	GRCh37	10	127350454	127350454	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	32	13	.	.	ENST00000368821.3:c.144G>A	p.Ala48=	p.A48=	ENST00000368821	NM_001128202.1	48	gcG/gcA	0	1	1	UPI00001D808E	0		ENST00000368821		ENSG00000175018	31653		45			HGNC	p.A48A		TEX36		SNV							ENST00000368821	protein_coding			Pfam_domain:PF15115		A		T		299/922							YES	TEX36,synonymous_variant,p.=,ENST00000368821,NM_001128202.1;TEX36,synonymous_variant,p.=,ENST00000532135,;TEX36,synonymous_variant,p.=,ENST00000526819,;ALDOAP2,downstream_gene_variant,,ENST00000398050,;							LOW	144/561		TEX36_HUMAN			Transcript			.	ENSP00000357811		CCDS44493.1			1	
RABEPK	0	LGGM	GRCh37	9	127994907	127994907	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	22	13	.	.	ENST00000373538.3:c.709G>T	p.Gly237Trp	p.G237W	ENST00000373538	NM_005833.3	237	Ggg/Tgg	0	1	1	UPI000013D058	0	NA	ENST00000373538		ENSG00000136933	16896		35	4.25		HGNC	p.G237W		RABEPK		SNV							ENST00000394125	protein_coding	getma.org/?cm=var&var=hg19,9,127994907,G,T&fts=all		hmmpanther:PTHR23244:SF257,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13418,Superfamily_domains:0052715		G/W		T	high	1019/1504		getma.org/?cm=msa&ty=f&p=RABEK_HUMAN&rb=192&re=241&var=G237W	deleterious(0)				YES	RABEPK,missense_variant,p.Gly237Trp,ENST00000373538,NM_005833.3;RABEPK,missense_variant,p.Gly237Trp,ENST00000394125,NM_001174152.1;RABEPK,missense_variant,p.Gly186Trp,ENST00000259460,NM_001174153.1;RABEPK,3_prime_UTR_variant,,ENST00000394124,;HSPA5,downstream_gene_variant,,ENST00000324460,NM_005347.4;							MODERATE	709/1119	G237W	RABEK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362639		CCDS6862.1			1	
ADAMTS6	0	LGGM	GRCh37	5	64629900	64629900	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	27	13	.	.	ENST00000381055.3:c.1086C>A	p.Cys362Ter	p.C362*	ENST00000381055	NM_197941.2	362	tgC/tgA	0	1	1	UPI000050D3F1	0	NA	ENST00000381055		ENSG00000049192	222		40	0		HGNC	p.C362X		ADAMTS6		SNV							ENST00000536360	protein_coding	getma.org/?cm=var&var=hg19,5,64629900,G,T&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF01421,PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF27,Superfamily_domains:SSF55486		C/*		T	NA	1943/7311		NA		Q5IR90_HUMAN			YES	ADAMTS6,stop_gained,p.Cys362Ter,ENST00000381055,NM_197941.2;ADAMTS6,stop_gained,p.Cys362Ter,ENST00000464680,;ADAMTS6,stop_gained,p.Cys362Ter,ENST00000536360,;ADAMTS6,3_prime_UTR_variant,,ENST00000381052,;ADAMTS6,non_coding_transcript_exon_variant,,ENST00000470597,;							HIGH	1086/3354	C362*	ATS6_HUMAN			Transcript			.	ENSP00000370443		CCDS3983.2			1	
INHA	0	LGGM	GRCh37	2	220439907	220439907	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	22	13	.	.	ENST00000243786.2:c.760G>A	p.Glu254Lys	p.E254K	ENST00000243786	NM_002191.3	254	Gag/Aag	0	1	1	UPI000002C8C6	0	NA	ENST00000243786		ENSG00000123999	6065		35	2.595		HGNC	p.E254K		INHA		SNV							ENST00000243786	protein_coding	getma.org/?cm=var&var=hg19,2,220439907,G,A&fts=all		PIRSF_domain:PIRSF037328,Prints_domain:PR00669,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF117		E/K		A	medium	940/1468		getma.org/?cm=msa&ty=f&p=INHA_HUMAN&rb=201&re=258&var=E254K	deleterious(0.01)				YES	INHA,missense_variant,p.Glu254Lys,ENST00000243786,NM_002191.3;OBSL1,upstream_gene_variant,,ENST00000404537,NM_015311.2;OBSL1,upstream_gene_variant,,ENST00000265318,;OBSL1,upstream_gene_variant,,ENST00000603926,NM_001173431.1;OBSL1,upstream_gene_variant,,ENST00000373876,;OBSL1,upstream_gene_variant,,ENST00000373873,NM_001173408.1;OBSL1,upstream_gene_variant,,ENST00000289656,;INHA,downstream_gene_variant,,ENST00000489456,;OBSL1,upstream_gene_variant,,ENST00000491370,;OBSL1,upstream_gene_variant,,ENST00000465589,;OBSL1,upstream_gene_variant,,ENST00000465149,;							MODERATE	760/1101	E254K	INHA_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000243786		CCDS2444.1			1	
CLVS1	0	LGGM	GRCh37	8	62212672	62212672	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	47	14	.	.	ENST00000519846.1:c.286C>A	p.Gln96Lys	p.Q96K	ENST00000519846		96	Cag/Aag	0	1		UPI000007472D	0	getma.org/pdb.php?prot=CLVS1_HUMAN&from=22&to=97&var=Q96K	ENST00000325897		ENSG00000177182	23139		61	-0.12		HGNC	p.Q96K		CLVS1		SNV							ENST00000519846	protein_coding	getma.org/?cm=var&var=hg19,8,62212672,C,A&fts=all		Gene3D:3.40.525.10,Pfam_domain:PF03765,Prints_domain:PR00180,hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72,SMART_domains:SM01100,Superfamily_domains:SSF46938		Q/K		A	neutral	604/3486		getma.org/?cm=msa&ty=f&p=CLVS1_HUMAN&rb=22&re=97&var=Q96K	tolerated(1)	G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN				CLVS1,missense_variant,p.Gln96Lys,ENST00000519846,;CLVS1,missense_variant,p.Gln96Lys,ENST00000325897,NM_173519.2;CLVS1,intron_variant,,ENST00000518592,;CLVS1,downstream_gene_variant,,ENST00000522621,;RP11-787D18.1,downstream_gene_variant,,ENST00000518064,;RP11-787D18.1,downstream_gene_variant,,ENST00000521801,;CLVS1,non_coding_transcript_exon_variant,,ENST00000521189,;CLVS1,downstream_gene_variant,,ENST00000523868,;							MODERATE	286/1065	Q96K	CLVS1_HUMAN			Transcript		benign(0.262)	.	ENSP00000325506		CCDS6176.1			1	
NPBWR2	0	LGGM	GRCh37	20	62737306	62737306	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	9	14	.	.	ENST00000369768.1:c.879G>A	p.Leu293=	p.L293=	ENST00000369768	NM_005286.2	293	ctG/ctA	0	1	1	UPI000013CBB3	0		ENST00000369768		ENSG00000125522	4530		23			HGNC	p.L293L		NPBWR2		SNV							ENST00000369768	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		L		T		1219/1352							YES	NPBWR2,synonymous_variant,p.=,ENST00000369768,NM_005286.2;							LOW	879/1002		NPBW2_HUMAN			Transcript			.	ENSP00000358783		CCDS13557.1			1	
KIAA0922	0	LGGM	GRCh37	4	154519794	154519794	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	15	14	.	.	ENST00000409959.3:c.2176G>A	p.Glu726Lys	p.E726K	ENST00000409959	NM_001131007.1	726	Gag/Aag	0	1		UPI000170BA66	0	NA	ENST00000409663		ENSG00000121210	29146		29	2.6		HGNC	p.E725K		KIAA0922		SNV							ENST00000409663	protein_coding	getma.org/?cm=var&var=hg19,4,154519794,G,A&fts=all		hmmpanther:PTHR22050:SF2,hmmpanther:PTHR22050		E/K		A	medium	2225/5017		getma.org/?cm=msa&ty=f&p=T131L_HUMAN&rb=562&re=761&var=E725K	deleterious(0)					KIAA0922,missense_variant,p.Glu725Lys,ENST00000409663,NM_015196.3;KIAA0922,missense_variant,p.Glu726Lys,ENST00000409959,NM_001131007.1;KIAA0922,missense_variant,p.Glu642Lys,ENST00000440693,;KIAA0922,missense_variant,p.Glu503Lys,ENST00000240487,;KIAA0922,upstream_gene_variant,,ENST00000497247,;							MODERATE	2173/4830	E725K	T131L_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000386574		CCDS3783.2			1	
ERCC5	0	LGGM	GRCh37	13	103515375	103515375	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	34	14	.	.	ENST00000355739.4:c.1876del	p.Ser626LeufsTer6	p.S626Lfs*6	ENST00000355739	NM_000123.3	626	Tct/ct	0	1	1	UPI000006D0C3	0		ENST00000355739		ENSG00000134899	3437		48			HGNC	p.S626fs		ERCC5		deletion			1				ENST00000355739	protein_coding			hmmpanther:PTHR16171,TIGRFAM_domain:TIGR00600		S/X		-		3299/5076							YES	ERCC5,frameshift_variant,p.Ser626LeufsTer6,ENST00000355739,NM_000123.3;BIVM-ERCC5,frameshift_variant,p.Ser1052LeufsTer6,ENST00000602836,NM_001204425.1;ERCC5,upstream_gene_variant,,ENST00000375954,;ERCC5,downstream_gene_variant,,ENST00000535557,;ERCC5,upstream_gene_variant,,ENST00000481099,;							HIGH	1876/3561		ERCC5_HUMAN			Transcript			.	ENSP00000347978		CCDS32004.1			1	
PRSS54	0	LGGM	GRCh37	16	58314581	58314581	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	26	14	.	.	ENST00000219301.4:c.735T>A	p.Gly245=	p.G245=	ENST00000219301	NM_001080492.1	245	ggT/ggA	0	1	1	UPI0000199F24	0		ENST00000219301		ENSG00000103023	26336		40			HGNC	p.G245G		PRSS54		SNV							ENST00000567164	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24275:SF47,hmmpanther:PTHR24275,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		G		T		1130/1810				H3BQS7_HUMAN,H3BNY0_HUMAN,F5H6C6_HUMAN			YES	PRSS54,synonymous_variant,p.=,ENST00000219301,NM_001080492.1;PRSS54,synonymous_variant,p.=,ENST00000567164,;PRSS54,synonymous_variant,p.=,ENST00000543437,;PRSS54,synonymous_variant,p.=,ENST00000569079,;CCDC113,3_prime_UTR_variant,,ENST00000219299,NM_014157.3;CCDC113,3_prime_UTR_variant,,ENST00000443128,NM_001142302.1;PRSS54,downstream_gene_variant,,ENST00000569727,;PRSS54,downstream_gene_variant,,ENST00000563336,;AC009107.1,upstream_gene_variant,,ENST00000366168,;							LOW	735/1188		PRS54_HUMAN			Transcript			.	ENSP00000219301		CCDS32463.1			1	
PDGFC	0	LGGM	GRCh37	4	157771371	157771371	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	22	15	.	.	ENST00000502773.1:c.314+2T>C		p.X105_splice	ENST00000502773	NM_016205.2			0	1	1	UPI0000034814	0		ENST00000502773		ENSG00000145431	8801		37			HGNC	-		PDGFC		SNV							ENST00000502773	protein_coding							G		-/4165							YES	PDGFC,splice_donor_variant,,ENST00000502773,NM_016205.2;PDGFC,splice_donor_variant,,ENST00000542208,;PDGFC,splice_donor_variant,,ENST00000422544,;PDGFC,intron_variant,,ENST00000541126,;PDGFC,splice_donor_variant,,ENST00000512711,;PDGFC,splice_donor_variant,,ENST00000274071,;PDGFC,splice_donor_variant,,ENST00000506880,;							HIGH	314/1038		PDGFC_HUMAN			Transcript			.	ENSP00000422464		CCDS3795.1			1	
BAIAP3	0	LGGM	GRCh37	16	1395277	1395277	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	6	15	.	.	ENST00000324385.5:c.2073C>T	p.Gly691=	p.G691=	ENST00000324385	NM_003933.4	691	ggC/ggT	0	1	1	UPI0000071E58	0		ENST00000324385		ENSG00000007516	948		21			HGNC	p.G656G		BAIAP3		SNV							ENST00000426824	protein_coding			hmmpanther:PTHR15015,hmmpanther:PTHR15015:SF19,PROSITE_profiles:PS51258		G		T		2231/4678							YES	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,synonymous_variant,p.=,ENST00000566162,;TSR3,downstream_gene_variant,,ENST00000007390,NM_001001410.2;BAIAP3,upstream_gene_variant,,ENST00000561793,;BAIAP3,upstream_gene_variant,,ENST00000564213,;BAIAP3,downstream_gene_variant,,ENST00000567825,;BAIAP3,upstream_gene_variant,,ENST00000566389,;BAIAP3,downstream_gene_variant,,ENST00000568198,;TSR3,downstream_gene_variant,,ENST00000566296,;BAIAP3,upstream_gene_variant,,ENST00000561602,;BAIAP3,upstream_gene_variant,,ENST00000567203,;							LOW	2073/3564		BAIP3_HUMAN			Transcript			.	ENSP00000324510		CCDS10434.1			1	
IFNW1	0	LGGM	GRCh37	9	21141174	21141174	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	34	15	.	.	ENST00000380229.2:c.396T>C	p.Ser132=	p.S132=	ENST00000380229	NM_002177.1	132	tcT/tcC	0	1	1	UPI000002C6DC	0		ENST00000380229		ENSG00000177047	5448		49			HGNC	p.S132S	rs763377641	IFNW1		SNV							ENST00000380229	protein_coding			Superfamily_domains:SSF47266,SMART_domains:SM00076,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691		S		G		971/1514	1.50E-05						YES	IFNW1,synonymous_variant,p.=,ENST00000380229,NM_002177.1;							LOW	396/588		IFNW1_HUMAN			Transcript			.	ENSP00000369578	8.24E-06	CCDS6496.1			1	
TP53	0	LGGM	GRCh37	17	7574017	7574017	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	9	15	.	.	ENST00000269305.4:c.1010G>A	p.Arg337His	p.R337H	ENST00000269305	NM_001126112.2	337	cGc/cAc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=318&to=359&var=R337H	ENST00000269305	likely_pathogenic,pathogenic	ENSG00000141510	11998	9.03E-05	24	2.24		HGNC	p.R337H	rs121912664,TP53_g.16901G>A,COSM43882,COSM131485	TP53		SNV			1			1,0,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7574017,C,T&fts=all		Gene3D:1olgA00,Pfam_domain:PF07710,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF47719		R/H		T	medium	1200/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=318&re=359&var=R337H	tolerated(0.09)	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			YES	TP53,missense_variant,p.Arg337His,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg337His,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,;					0,0,1,1		MODERATE	1010/1182	R337H	P53_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000269305	8.24E-06	CCDS11118.1			1	23032637
WNT7B	0	LGGM	GRCh37	22	46318920	46318920	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	13	16	.	.	ENST00000339464.4:c.866C>T	p.Thr289Met	p.T289M	ENST00000339464	NM_058238.2	289	aCg/aTg	0	1	1	UPI0000001BC6	0	getma.org/pdb.php?prot=WNT7B_HUMAN&from=37&to=349&var=T289M	ENST00000339464		ENSG00000188064	12787		29	3.865		HGNC	p.T293M		WNT7B		SNV							ENST00000409496	protein_coding	getma.org/?cm=var&var=hg19,22,46318920,G,A&fts=all		Pfam_domain:PF00110,hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF73,SMART_domains:SM00097		T/M		A	high	1241/3919		getma.org/?cm=msa&ty=f&p=WNT7B_HUMAN&rb=37&re=349&var=T289M	deleterious(0)	B8A598_HUMAN			YES	WNT7B,missense_variant,p.Thr289Met,ENST00000339464,NM_058238.2;WNT7B,missense_variant,p.Thr293Met,ENST00000409496,;WNT7B,missense_variant,p.Thr273Met,ENST00000410089,;WNT7B,downstream_gene_variant,,ENST00000410058,;							MODERATE	866/1050	T289M	WNT7B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341032		CCDS33667.1			1	
MIOX	0	LGGM	GRCh37	22	50928189	50928189	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	19	17	.	.	ENST00000216075.6:c.762C>T	p.Leu254=	p.L254=	ENST00000216075	NM_017584.5	254	ctC/ctT	0	1	1	UPI000012F148	0		ENST00000216075		ENSG00000100253	14522		36			HGNC	p.L254L		MIOX		SNV							ENST00000216075	protein_coding			Pfam_domain:PF05153,hmmpanther:PTHR12588,Superfamily_domains:SSF109604		L		T		836/1130							YES	MIOX,synonymous_variant,p.=,ENST00000395732,;MIOX,synonymous_variant,p.=,ENST00000216075,NM_017584.5;MIOX,synonymous_variant,p.=,ENST00000395733,;MIOX,synonymous_variant,p.=,ENST00000451761,;ADM2,downstream_gene_variant,,ENST00000395738,NM_024866.5,NM_001253845.1;ADM2,downstream_gene_variant,,ENST00000362068,;							LOW	762/858		MIOX_HUMAN			Transcript			.	ENSP00000216075		CCDS14092.1			1	
LRP1B	0	LGGM	GRCh37	2	141459309	141459309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	28	17	.	.	ENST00000389484.3:c.6408T>A	p.Phe2136Leu	p.F2136L	ENST00000389484	NM_018557.2	2136	ttT/ttA	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=2050&to=2249&var=F2136L	ENST00000389484		ENSG00000168702	6693		45	1.45		HGNC	p.F2136L		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141459309,A,T&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105		F/L		T	low	7380/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=2050&re=2249&var=F2136L		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			YES	LRP1B,missense_variant,p.Phe2136Leu,ENST00000389484,NM_018557.2;							MODERATE	6408/13800	F2136L	LRP1B_HUMAN			Transcript		benign(0.153)	.	ENSP00000374135		CCDS2182.1			1	
DCTN1	0	LGGM	GRCh37	2	74594886	74594886	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	13	17	.	.	ENST00000361874.3:c.2121C>G	p.His707Gln	p.H707Q	ENST00000361874	NM_004082.4	707	caC/caG	0	1	1	UPI0000129A25	0	NA	ENST00000361874		ENSG00000204843	2711		30	1.39		HGNC	p.H700Q		DCTN1		SNV			1				ENST00000394003	protein_coding	getma.org/?cm=var&var=hg19,2,74594886,G,C&fts=all		Pfam_domain:PF12455,hmmpanther:PTHR18916:SF29,hmmpanther:PTHR18916		H/Q		C	low	2439/4500		getma.org/?cm=msa&ty=f&p=DCTN1_HUMAN&rb=526&re=805&var=H707Q	tolerated(0.07)	Q6LCB2_HUMAN,E7EWF7_HUMAN,C9JZA4_HUMAN,C9JTE5_HUMAN,C9JJN7_HUMAN,C9JJD0_HUMAN,C9J1B7_HUMAN			YES	DCTN1,missense_variant,p.His707Gln,ENST00000361874,NM_004082.4;DCTN1,missense_variant,p.His700Gln,ENST00000394003,NM_001190837.1;DCTN1,missense_variant,p.His670Gln,ENST00000409240,NM_001190836.1;DCTN1,missense_variant,p.His690Gln,ENST00000409868,;DCTN1,missense_variant,p.His573Gln,ENST00000407639,NM_023019.3;DCTN1,missense_variant,p.His573Gln,ENST00000409438,NM_001135041.2;DCTN1,missense_variant,p.His687Gln,ENST00000409567,NM_001135040.2;DCTN1,downstream_gene_variant,,ENST00000458655,;DCTN1,non_coding_transcript_exon_variant,,ENST00000495643,;DCTN1,intron_variant,,ENST00000497666,;DCTN1,downstream_gene_variant,,ENST00000463583,;DCTN1,missense_variant,p.His670Gln,ENST00000434055,;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,;RP11-287D1.3,upstream_gene_variant,,ENST00000451608,;DCTN1,upstream_gene_variant,,ENST00000491465,;DCTN1,downstream_gene_variant,,ENST00000477966,;DCTN1,downstream_gene_variant,,ENST00000470351,;DCTN1,upstream_gene_variant,,ENST00000495895,;DCTN1,upstream_gene_variant,,ENST00000492717,;DCTN1,downstream_gene_variant,,ENST00000462813,;							MODERATE	2121/3837	H707Q	DCTN1_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000354791		CCDS1939.1			1	
NOTCH2	0	LGGM	GRCh37	1	120458503	120458503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	28	17	.	.	ENST00000256646.2:c.6842G>T	p.Gly2281Val	p.G2281V	ENST00000256646	NM_024408.3	2281	gGc/gTc	0	1	1	UPI000013CF1D	0	NA	ENST00000256646		ENSG00000134250	7882		45	1.15		HGNC	p.G2281V		NOTCH2		SNV			1				ENST00000256646	protein_coding	getma.org/?cm=var&var=hg19,1,120458503,C,A&fts=all		PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4		G/V		A	low	7062/11389		getma.org/?cm=msa&ty=f&p=NOTC2_HUMAN&rb=2135&re=2334&var=G2281V	deleterious(0.05)	Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,missense_variant,p.Gly2281Val,ENST00000256646,NM_024408.3;							MODERATE	6842/7416	G2281V	NOTC2_HUMAN			Transcript		benign(0.006)	.	ENSP00000256646		CCDS908.1			1	
NOTCH2	0	LGGM	GRCh37	1	120458502	120458502	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	26	17	.	.	ENST00000256646.2:c.6843C>T	p.Gly2281=	p.G2281=	ENST00000256646	NM_024408.3	2281	ggC/ggT	0	1	1	UPI000013CF1D	0		ENST00000256646		ENSG00000134250	7882		43			HGNC	p.G2281G		NOTCH2		SNV			1				ENST00000256646	protein_coding			PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4		G		A		7063/11389				Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,synonymous_variant,p.=,ENST00000256646,NM_024408.3;							LOW	6843/7416		NOTC2_HUMAN			Transcript			.	ENSP00000256646		CCDS908.1			1	
GKN1	0	LGGM	GRCh37	2	69207114	69207114	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	24	18	.	.	ENST00000377938.2:c.427G>A	p.Asp143Asn	p.D143N	ENST00000377938	NM_019617.3	143	Gat/Aat	0	1	1	UPI0000126BA7	0	NA	ENST00000377938		ENSG00000169605	23217		42	0.805		HGNC	p.D143N	rs377408917,COSM1022397	GKN1		SNV	A:0					0,1	ENST00000377938	protein_coding	getma.org/?cm=var&var=hg19,2,69207114,G,A&fts=all	A:0	PROSITE_profiles:PS50869,hmmpanther:PTHR16483,hmmpanther:PTHR16483:SF1,Pfam_domain:PF04089,SMART_domains:SM01039		D/N	A:0.0001	A	low	490/814	1.50E-05	getma.org/?cm=msa&ty=f&p=GKN1_HUMAN&rb=68&re=164&var=D143N	tolerated(0.39)	Q53YU7_HUMAN	A:0	A:0.001	YES	GKN1,missense_variant,p.Asp143Asn,ENST00000377938,NM_019617.3;GKN1,downstream_gene_variant,,ENST00000478888,;	0.000809	A:0.0002			0,1		MODERATE	427/600	D143N	GKN1_HUMAN		A:0	Transcript		benign(0.04)	common_variant	ENSP00000367172	6.59E-05	CCDS1891.2		A:0	1	
DIO2	0	LGGM	GRCh37	14	80669417	80669417	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	88	19	.	.	ENST00000555750.1:c.545T>A	p.Leu182Gln	p.L182Q	ENST00000555750	NM_001007023.3	182	cTg/cAg	0	1		UPI0000161B1B	0	NA	ENST00000438257		ENSG00000211448	2884		107	2.945		HGNC	p.W21R		DIO2		SNV							ENST00000557125	protein_coding	getma.org/?cm=var&var=hg19,14,80669417,A,T&fts=all		Superfamily_domains:SSF52833,PIRSF_domain:PIRSF001330,Gene3D:3.40.30.10,Pfam_domain:PF00837,hmmpanther:PTHR11781:SF3,hmmpanther:PTHR11781		L/Q		T	medium	592/6136		getma.org/?cm=msa&ty=f&p=IOD2_HUMAN&rb=4&re=262&var=L146Q	deleterious(0)	Q9NZL0_HUMAN,Q9C0K2_HUMAN,G3V3A8_HUMAN,A8K845_HUMAN				DIO2,missense_variant,p.Leu146Gln,ENST00000557010,NM_000793.5,NM_001242503.1,NM_001242502.1;DIO2,missense_variant,p.Leu146Gln,ENST00000438257,NM_013989.4,NM_001242503.1,NM_001242502.1;DIO2,missense_variant,p.Leu182Gln,ENST00000555750,NM_001007023.3;DIO2,missense_variant,p.Trp21Arg,ENST00000557125,;DIO2,3_prime_UTR_variant,,ENST00000422005,;DIO2,3_prime_UTR_variant,,ENST00000556811,;DIO2,3_prime_UTR_variant,,ENST00000555844,;							MODERATE	437/822	L146Q	IOD2_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000405854		CCDS45146.1			1	
KRTAP4-11	0	LGGM	GRCh37	17	39274489	39274489	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	37	21	.	.	ENST00000391413.2:c.79C>A	p.Pro27Thr	p.P27T	ENST00000391413	NM_033059.3	27	Ccc/Acc	0	1	1	UPI00001AFBF7	0	NA	ENST00000391413		ENSG00000212721	18911		58	2.83		HGNC	p.P27T		KRTAP4-11		SNV							ENST00000391413	protein_coding	getma.org/?cm=var&var=hg19,17,39274489,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF1		P/T		T	medium	118/1174		getma.org/?cm=msa&ty=f&p=KR411_HUMAN&rb=19&re=67&var=P27T	deleterious(0.02)				YES	KRTAP4-11,missense_variant,p.Pro27Thr,ENST00000391413,NM_033059.3;KRTAP4-12,downstream_gene_variant,,ENST00000394014,NM_031854.2;							MODERATE	79/588	P27T	KR411_HUMAN			Transcript		unknown(0)	.	ENSP00000375232		CCDS45675.1			1	
FAM171A1	0	LGGM	GRCh37	10	15255034	15255034	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	23	23	.	.	ENST00000378116.4:c.2553C>A	p.His851Gln	p.H851Q	ENST00000378116	NM_001010924.1	851	caC/caA	0	1	1	UPI00001414CA	0	NA	ENST00000378116		ENSG00000148468	23522		46	0		HGNC	p.H851Q		FAM171A1		SNV							ENST00000378116	protein_coding	getma.org/?cm=var&var=hg19,10,15255034,G,T&fts=all		Pfam_domain:PF10577,hmmpanther:PTHR31626,hmmpanther:PTHR31626:SF1		H/Q		T	neutral	2560/3952		getma.org/?cm=msa&ty=f&p=F1711_HUMAN&rb=34&re=888&var=H851Q	tolerated(0.57)				YES	FAM171A1,missense_variant,p.His851Gln,ENST00000378116,NM_001010924.1;FAM171A1,downstream_gene_variant,,ENST00000477161,;							MODERATE	2553/2673	H851Q	F1711_HUMAN			Transcript		benign(0.002)	.	ENSP00000367356		CCDS31154.1			1	
NPIPB5	0	LGGM	GRCh37	16	22545966	22545966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	93	23	.	.	ENST00000424340.1:c.1662G>A	p.Glu554=	p.E554=	ENST00000424340	NM_001135865.1	554	gaG/gaA	0	1	1	UPI000181EF82	0		ENST00000424340		ENSG00000243716	37233		116			HGNC	p.E554E		NPIPB5		SNV							ENST00000424340	protein_coding			hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		E		A		1941/3801				U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,synonymous_variant,p.=,ENST00000424340,NM_001135865.1;NPIPB5,synonymous_variant,p.=,ENST00000517539,;NPIPB5,synonymous_variant,p.=,ENST00000415833,;NPIPB5,synonymous_variant,p.=,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;							LOW	1662/3402		NPIB5_HUMAN			Transcript			.	ENSP00000440703		CCDS45443.1			1	
KCNQ3	0	LGGM	GRCh37	8	133141961	133141961	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	8	25	.	.	ENST00000388996.4:c.2167G>A	p.Gly723Arg	p.G723R	ENST00000388996	NM_004519.3	723	Ggg/Agg	0	1	1	UPI00001279F0	0	NA	ENST00000388996		ENSG00000184156	6297		33	0		HGNC	p.G723R		KCNQ3		SNV			1				ENST00000388996	protein_coding	getma.org/?cm=var&var=hg19,8,133141961,C,T&fts=all				G/R		T	neutral	2588/11441		getma.org/?cm=msa&ty=f&p=KCNQ3_HUMAN&rb=667&re=768&var=G723R	tolerated(0.14)				YES	KCNQ3,missense_variant,p.Gly723Arg,ENST00000388996,NM_004519.3;KCNQ3,missense_variant,p.Gly711Arg,ENST00000519445,;KCNQ3,missense_variant,p.Gly603Arg,ENST00000521134,NM_001204824.1;KCNQ3,non_coding_transcript_exon_variant,,ENST00000519589,;							MODERATE	2167/2619	G723R	KCNQ3_HUMAN			Transcript		benign(0.221)	.	ENSP00000373648		CCDS34943.1			1	
LAMB1	0	LGGM	GRCh37	7	107638831	107638831	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	30	25	.	.	ENST00000222399.6:c.320G>C	p.Arg107Pro	p.R107P	ENST00000222399	NM_002291.2	107	cGc/cCc	0	1	1	UPI00001AE63F	0	getma.org/pdb.php?prot=LAMB1_HUMAN&from=35&to=269&var=R107P	ENST00000222399		ENSG00000091136	6486		55	2.42		HGNC	p.R131P		LAMB1		SNV			1				ENST00000393561	protein_coding	getma.org/?cm=var&var=hg19,7,107638831,C,G&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,SMART_domains:SM00136		R/P		G	medium	551/5725		getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=35&re=269&var=R107P	tolerated(0.12)	Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,missense_variant,p.Arg131Pro,ENST00000393561,;LAMB1,missense_variant,p.Arg107Pro,ENST00000222399,NM_002291.2;LAMB1,missense_variant,p.Arg107Pro,ENST00000393560,;LAMB1,downstream_gene_variant,,ENST00000439976,;LAMB1,downstream_gene_variant,,ENST00000393559,;U3,downstream_gene_variant,,ENST00000458938,;							MODERATE	320/5361	R107P	LAMB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000222399		CCDS5750.1			1	
FAM179B	0	LGGM	GRCh37	14	45431739	45431739	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	18	25	.	.	ENST00000361577.3:c.115G>A	p.Gly39Arg	p.G39R	ENST00000361577	NM_015091.2	39	Ggg/Agg	0	1	1	UPI00001C1F79	0	NA	ENST00000361577		ENSG00000198718	19959		43	0.205		HGNC	p.G39R		FAM179B		SNV							ENST00000382233	protein_coding	getma.org/?cm=var&var=hg19,14,45431739,G,A&fts=all		hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6		G/R		A	neutral	329/6247		getma.org/?cm=msa&ty=f&p=F179B_HUMAN&rb=1&re=200&var=G39R	tolerated_low_confidence(0.21)				YES	FAM179B,missense_variant,p.Gly39Arg,ENST00000361462,;FAM179B,missense_variant,p.Gly39Arg,ENST00000361577,NM_015091.2;FAM179B,missense_variant,p.Gly39Arg,ENST00000382233,;KLHL28,intron_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000396128,NM_017658.3;KLHL28,upstream_gene_variant,,ENST00000355081,;KLHL28,upstream_gene_variant,,ENST00000556500,;KLHL28,upstream_gene_variant,,ENST00000579157,;KLHL28,upstream_gene_variant,,ENST00000557468,;KLHL28,downstream_gene_variant,,ENST00000553817,;FAM179B,missense_variant,p.Gly39Arg,ENST00000557423,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555607,;FAM179B,non_coding_transcript_exon_variant,,ENST00000555945,;							MODERATE	115/5163	G39R	F179B_HUMAN			Transcript		benign(0.011)	.	ENSP00000355045		CCDS9681.1			1	
TGFBR3	0	LGGM	GRCh37	1	92224259	92224259	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	35	26	.	.	ENST00000212355.4:c.295T>A	p.Ser99Thr	p.S99T	ENST00000212355	NM_001195683.1	99	Tct/Act	0	1	1	UPI000049D997	0	NA	ENST00000212355		ENSG00000069702	11774		61	0.69		HGNC	p.S99T		TGFBR3		SNV			1				ENST00000465892	protein_coding	getma.org/?cm=var&var=hg19,1,92224259,A,T&fts=all		hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5		S/T		T	neutral	761/6416		getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=21&re=414&var=S99T	deleterious(0)	E9PAW7_HUMAN			YES	TGFBR3,missense_variant,p.Ser99Thr,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ser99Thr,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ser99Thr,ENST00000525962,;TGFBR3,missense_variant,p.Ser99Thr,ENST00000465892,;TGFBR3,non_coding_transcript_exon_variant,,ENST00000468996,;TGFBR3,3_prime_UTR_variant,,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;							MODERATE	295/2556	S99T	TGBR3_HUMAN			Transcript		benign(0.024)	.	ENSP00000212355		CCDS30770.1			1	
CELF2	0	LGGM	GRCh37	10	11356199	11356199	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	16	26	.	.	ENST00000450189.1:c.1074G>T	p.Leu358=	p.L358=	ENST00000450189	NM_006561.3	358	ctG/ctT	0	1		UPI0000072DD8	0		ENST00000416382		ENSG00000048740	2550		42			HGNC	p.L327L		CELF2		SNV							ENST00000399850	protein_coding			hmmpanther:PTHR24622:SF164,hmmpanther:PTHR24622,Low_complexity_(Seg):seg		L		T		1053/2398				B4DZ01_HUMAN,B4DT00_HUMAN				CELF2,synonymous_variant,p.=,ENST00000379261,NM_001025077.2;CELF2,synonymous_variant,p.=,ENST00000315874,NM_001025076.2,NM_001083591.1;CELF2,synonymous_variant,p.=,ENST00000427450,;CELF2,synonymous_variant,p.=,ENST00000450189,NM_006561.3;CELF2,synonymous_variant,p.=,ENST00000354440,;CELF2,synonymous_variant,p.=,ENST00000542579,;CELF2,synonymous_variant,p.=,ENST00000416382,;CELF2,synonymous_variant,p.=,ENST00000399850,;CELF2,synonymous_variant,p.=,ENST00000417956,;CELF2,synonymous_variant,p.=,ENST00000609692,;CELF2,synonymous_variant,p.=,ENST00000608830,;CELF2,synonymous_variant,p.=,ENST00000354897,;CELF2,synonymous_variant,p.=,ENST00000537122,;CELF2-AS1,downstream_gene_variant,,ENST00000379256,;CELF2,3_prime_UTR_variant,,ENST00000609870,;							LOW	1053/1527		CELF2_HUMAN			Transcript			.	ENSP00000406451		CCDS44354.1			1	
TGFBR3	0	LGGM	GRCh37	1	92224258	92224258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	36	26	.	.	ENST00000212355.4:c.296C>T	p.Ser99Phe	p.S99F	ENST00000212355	NM_001195683.1	99	tCt/tTt	0	1	1	UPI000049D997	0	NA	ENST00000212355		ENSG00000069702	11774		62	0.69		HGNC	p.S99F		TGFBR3		SNV			1				ENST00000465892	protein_coding	getma.org/?cm=var&var=hg19,1,92224258,G,A&fts=all		hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5		S/F		A	neutral	762/6416		getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=21&re=414&var=S99F	deleterious(0)	E9PAW7_HUMAN			YES	TGFBR3,missense_variant,p.Ser99Phe,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ser99Phe,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ser99Phe,ENST00000525962,;TGFBR3,missense_variant,p.Ser99Phe,ENST00000465892,;TGFBR3,non_coding_transcript_exon_variant,,ENST00000468996,;TGFBR3,3_prime_UTR_variant,,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;							MODERATE	296/2556	S99F	TGBR3_HUMAN			Transcript		benign(0.285)	.	ENSP00000212355		CCDS30770.1			1	
EMB	0	LGGM	GRCh37	5	49707146	49707146	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	46	28	.	.	ENST00000303221.5:c.268T>A	p.Phe90Ile	p.F90I	ENST00000303221	NM_198449.2	90	Ttc/Atc	0	1	1	UPI0000160A6D	0	NA	ENST00000303221		ENSG00000170571	30465		74	1.845		HGNC	p.F62I		EMB		SNV							ENST00000510295	protein_coding	getma.org/?cm=var&var=hg19,5,49707146,A,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF13895,Gene3D:2.60.40.10,hmmpanther:PTHR10075,hmmpanther:PTHR10075:SF4,PROSITE_profiles:PS50835		F/I		T	low	484/4281		getma.org/?cm=msa&ty=f&p=EMB_HUMAN&rb=68&re=158&var=F90I	deleterious(0.01)	B7Z902_HUMAN			YES	EMB,missense_variant,p.Phe90Ile,ENST00000303221,NM_198449.2;EMB,missense_variant,p.Phe40Ile,ENST00000514111,;EMB,intron_variant,,ENST00000508934,;EMB,non_coding_transcript_exon_variant,,ENST00000506190,;EMB,non_coding_transcript_exon_variant,,ENST00000505896,;							MODERATE	268/984	F90I	EMB_HUMAN			Transcript		possibly_damaging(0.622)	.	ENSP00000302289		CCDS3953.1			1	
DSTN	0	LGGM	GRCh37	20	17587695	17587695	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	30	28	.	.	ENST00000246069.7:c.402A>T	p.Glu134Asp	p.E134D	ENST00000246069	NM_006870.3	134	gaA/gaT	0	1	1	UPI00001291DE	0	getma.org/pdb.php?prot=DEST_HUMAN&from=20&to=153&var=E134D	ENST00000246069		ENSG00000125868	15750		58	2.285		HGNC	p.E134D		DSTN		SNV							ENST00000246069	protein_coding	getma.org/?cm=var&var=hg19,20,17587695,A,T&fts=all		PROSITE_profiles:PS51263,hmmpanther:PTHR11913,hmmpanther:PTHR11913:SF18,Pfam_domain:PF00241,Gene3D:3.40.20.10,SMART_domains:SM00102,Superfamily_domains:SSF55753,Prints_domain:PR00006		E/D		T	medium	748/3617		getma.org/?cm=msa&ty=f&p=DEST_HUMAN&rb=20&re=153&var=E134D	deleterious(0.03)				YES	DSTN,missense_variant,p.Glu134Asp,ENST00000246069,NM_006870.3;DSTN,missense_variant,p.Glu117Asp,ENST00000474024,NM_001011546.1;DSTN,3_prime_UTR_variant,,ENST00000449141,;							MODERATE	402/498	E134D	DEST_HUMAN			Transcript		benign(0.02)	.	ENSP00000246069		CCDS13127.1			1	
FAM154B	0	LGGM	GRCh37	15	82574736	82574736	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	48	29	.	.	ENST00000339465.5:c.530G>A	p.Arg177His	p.R177H	ENST00000339465	NM_001008226.1	177	cGc/cAc	0	1	1	UPI00001D779A	0	NA	ENST00000339465		ENSG00000188659	33727		77	0		HGNC	p.R177H		FAM154B		SNV							ENST00000339465	protein_coding	getma.org/?cm=var&var=hg19,15,82574736,G,A&fts=all		hmmpanther:PTHR31516:SF4,hmmpanther:PTHR31516,Pfam_domain:PF05217		R/H		A	neutral	599/3134		getma.org/?cm=msa&ty=f&p=F154B_HUMAN&rb=8&re=222&var=R177H	deleterious(0)				YES	FAM154B,missense_variant,p.Arg177His,ENST00000339465,NM_001008226.1;FAM154B,missense_variant,p.Arg162His,ENST00000427381,;FAM154B,non_coding_transcript_exon_variant,,ENST00000565501,;							MODERATE	530/1197	R177H	F154B_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000340445		CCDS32310.1			1	
MRPL32	0	LGGM	GRCh37	7	42974646	42974646	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	56	29	.	.	ENST00000223324.2:c.223A>G	p.Ile75Val	p.I75V	ENST00000223324	NM_031903.2	75	Atc/Gtc	0	1	1	UPI00001342E5	0	NA	ENST00000223324		ENSG00000106591	14035		85	1.775		HGNC	p.I75V		MRPL32		SNV							ENST00000432845	protein_coding	getma.org/?cm=var&var=hg19,7,42974646,A,G&fts=all		hmmpanther:PTHR21026,hmmpanther:PTHR21026:SF2		I/V		G	low	410/1035		getma.org/?cm=msa&ty=f&p=RM32_HUMAN&rb=1&re=78&var=I75V	tolerated(0.19)	A4D1V4_HUMAN			YES	MRPL32,missense_variant,p.Ile75Val,ENST00000223324,NM_031903.2;PSMA2,upstream_gene_variant,,ENST00000538645,;PSMA2,upstream_gene_variant,,ENST00000223321,NM_002787.4;PSMA2,upstream_gene_variant,,ENST00000445517,;MRPL32,non_coding_transcript_exon_variant,,ENST00000496564,;MRPL32,missense_variant,p.Ile75Val,ENST00000432845,;MRPL32,missense_variant,p.Ile10Val,ENST00000413995,;PSMA2,upstream_gene_variant,,ENST00000411875,;PSMA2,upstream_gene_variant,,ENST00000442788,;PSMA2,upstream_gene_variant,,ENST00000436986,;PSMA2,upstream_gene_variant,,ENST00000433579,;							MODERATE	223/567	I75V	RM32_HUMAN			Transcript		benign(0.02)	.	ENSP00000223324		CCDS5468.1			1	
TTN	0	LGGM	GRCh37	2	179629356	179629356	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	62	29	.	.	ENST00000589042.1:c.9886C>G	p.Leu3296Val	p.L3296V	ENST00000589042	NM_001267550.1	3296	Ctt/Gtt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=3239&to=3328&var=L3296V	ENST00000591111		ENSG00000155657	12403		91	2.74		HGNC	p.L3250V		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179629356,G,C&fts=all		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		L/V		C	medium	10111/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=3239&re=3328&var=L3296V		C9JQJ2_HUMAN				TTN,missense_variant,p.Leu3296Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Leu3296Val,ENST00000591111,;TTN,missense_variant,p.Leu3296Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Leu3250Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Leu3250Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Leu3250Val,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu3296Val,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000578746,;TTN-AS1,downstream_gene_variant,,ENST00000590773,;							MODERATE	9886/103053	L3296V	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ALS2	0	LGGM	GRCh37	2	202588055	202588055	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	42	30	.	.	ENST00000264276.6:c.3622A>G	p.Met1208Val	p.M1208V	ENST00000264276	NM_020919.3	1208	Atg/Gtg	0	1	1	UPI0000231C77	0	NA	ENST00000264276		ENSG00000003393	443		72	-0.465		HGNC	p.M520V		ALS2		SNV			1				ENST00000457679	protein_coding	getma.org/?cm=var&var=hg19,2,202588055,T,C&fts=all		Superfamily_domains:0038399,SMART_domains:SM00698,Gene3D:1h3iA01,Pfam_domain:PF02493,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF12		M/V		C	neutral	3995/6644		getma.org/?cm=msa&ty=f&p=ALS2_HUMAN&rb=1178&re=1240&var=M1208V	tolerated(0.13)	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN			YES	ALS2,missense_variant,p.Met1208Val,ENST00000264276,NM_020919.3;ALS2,missense_variant,p.Met520Val,ENST00000457679,;ALS2,splice_region_variant,,ENST00000489440,;ALS2,downstream_gene_variant,,ENST00000494017,;ALS2,missense_variant,p.Met529Val,ENST00000439495,;ALS2,splice_region_variant,,ENST00000482891,;							MODERATE	3622/4974	M1208V	ALS2_HUMAN			Transcript		benign(0.012)	.	ENSP00000264276		CCDS42800.1			1	
ZNF608	0	LGGM	GRCh37	5	124079903	124079903	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	42	31	.	.	ENST00000306315.5:c.780C>T	p.Val260=	p.V260=	ENST00000306315	NM_020747.2	260	gtC/gtT	0	1	1	UPI000013EB23	0		ENST00000306315		ENSG00000168916	29238		73			HGNC	p.V260V		ZNF608		SNV							ENST00000509799	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF4		V		A		1216/5958				Q9UFL4_HUMAN,B3KPE6_HUMAN			YES	ZNF608,synonymous_variant,p.=,ENST00000306315,NM_020747.2;ZNF608,synonymous_variant,p.=,ENST00000513986,;ZNF608,synonymous_variant,p.=,ENST00000509799,;ZNF608,intron_variant,,ENST00000504926,;ZNF608,non_coding_transcript_exon_variant,,ENST00000503896,;ZNF608,downstream_gene_variant,,ENST00000512940,;ZNF608,synonymous_variant,p.=,ENST00000505686,;							LOW	780/4539		ZN608_HUMAN			Transcript			.	ENSP00000307746		CCDS34219.1			1	
ZFPM2	0	LGGM	GRCh37	8	106814830	106814830	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	64	34	.	.	ENST00000407775.2:c.2520T>A	p.Ser840=	p.S840=	ENST00000407775	NM_012082.3	840	tcT/tcA	0	1	1	UPI000057A0B4	0		ENST00000407775		ENSG00000169946	16700		98			HGNC	p.S708S		ZFPM2		SNV			1				ENST00000520492	protein_coding			hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5		S		A		2770/4700				Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,synonymous_variant,p.=,ENST00000407775,NM_012082.3;ZFPM2,synonymous_variant,p.=,ENST00000520492,;ZFPM2,synonymous_variant,p.=,ENST00000517361,;ZFPM2,synonymous_variant,p.=,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							LOW	2520/3456		FOG2_HUMAN			Transcript			.	ENSP00000384179		CCDS47908.1			1	
RGS22	0	LGGM	GRCh37	8	101016163	101016163	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	20	35	.	.	ENST00000360863.6:c.2618A>G	p.His873Arg	p.H873R	ENST00000360863	NM_015668.3	873	cAt/cGt	0	1	1	UPI0000E5AF25	0	NA	ENST00000360863		ENSG00000132554	24499		55	1.735		HGNC	p.H873R		RGS22		SNV							ENST00000360863	protein_coding	getma.org/?cm=var&var=hg19,8,101016163,T,C&fts=all		PROSITE_profiles:PS50132,hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097		H/R		C	low	2813/4296		getma.org/?cm=msa&ty=f&p=RGS22_HUMAN&rb=852&re=978&var=H873R	deleterious(0.02)	E5RHE4_HUMAN,E5RFV6_HUMAN			YES	RGS22,missense_variant,p.His873Arg,ENST00000360863,NM_015668.3;RGS22,missense_variant,p.His692Arg,ENST00000523287,NM_001286693.1;RGS22,missense_variant,p.His861Arg,ENST00000523437,NM_001286692.1;RGS22,missense_variant,p.His188Arg,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,;							MODERATE	2618/3795	H873R	RGS22_HUMAN			Transcript		benign(0.36)	.	ENSP00000354109		CCDS43758.1			1	
KIF21A	0	LGGM	GRCh37	12	39752130	39752130	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	59	35	.	.	ENST00000361418.5:c.1065T>C	p.Phe355=	p.F355=	ENST00000361418		355	ttT/ttC	0	1	1	UPI0000212ED9	0		ENST00000361418		ENSG00000139116	19349		94			HGNC	p.F355F		KIF21A		SNV			1				ENST00000361961	protein_coding			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398,SMART_domains:SM00129,Superfamily_domains:SSF52540		F		G		1081/5044							YES	KIF21A,synonymous_variant,p.=,ENST00000395670,;KIF21A,synonymous_variant,p.=,ENST00000361961,NM_017641.3,NM_001173464.1;KIF21A,synonymous_variant,p.=,ENST00000361418,;KIF21A,synonymous_variant,p.=,ENST00000544797,NM_001173463.1;KIF21A,synonymous_variant,p.=,ENST00000541463,NM_001173465.1;KIF21A,synonymous_variant,p.=,ENST00000552908,;KIF21A,upstream_gene_variant,,ENST00000550429,;							LOW	1065/5025		KI21A_HUMAN			Transcript			.	ENSP00000354878		CCDS53776.1			1	
IK	0	LGGM	GRCh37	5	140035422	140035422	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	51	37	.	.	ENST00000417647.2:c.646G>T	p.Val216Phe	p.V216F	ENST00000417647	NM_006083.3	216	Gtt/Ttt	0	1	1	UPI0000378337	0	NA	ENST00000417647		ENSG00000113141	5958		88	2.25		HGNC	p.V216F		IK		SNV							ENST00000508301	protein_coding	getma.org/?cm=var&var=hg19,5,140035422,G,T&fts=all		Pfam_domain:PF07808,hmmpanther:PTHR22840,hmmpanther:PTHR22840:SF2		V/F		T	medium	785/1962		getma.org/?cm=msa&ty=f&p=RED_HUMAN&rb=76&re=303&var=V216F	deleterious(0)	E7EQZ7_HUMAN,B4DEH2_HUMAN			YES	IK,missense_variant,p.Val216Phe,ENST00000417647,NM_006083.3;IK,missense_variant,p.Val216Phe,ENST00000508301,;IK,downstream_gene_variant,,ENST00000502899,;IK,downstream_gene_variant,,ENST00000513256,;IK,downstream_gene_variant,,ENST00000507593,;IK,downstream_gene_variant,,ENST00000523672,;IK,upstream_gene_variant,,ENST00000515592,;IK,downstream_gene_variant,,ENST00000503332,;IK,upstream_gene_variant,,ENST00000515015,;IK,downstream_gene_variant,,ENST00000512827,;							MODERATE	646/1674	V216F	RED_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000396301		CCDS47280.1			1	
MTMR11	0	LGGM	GRCh37	1	149905375	149905375	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	30	40	.	.	ENST00000439741.2:c.909A>T	p.Val303=	p.V303=	ENST00000439741	NM_001145862.1	303	gtA/gtT	0	1	1	UPI000173AA17	0		ENST00000439741		ENSG00000014914	24307		70			HGNC	p.V231V		MTMR11		SNV							ENST00000369140	protein_coding			Superfamily_domains:SSF52799,hmmpanther:PTHR10807:SF51,hmmpanther:PTHR10807,PROSITE_profiles:PS51339		V		A		1160/2856							YES	MTMR11,synonymous_variant,p.=,ENST00000439741,NM_001145862.1;MTMR11,synonymous_variant,p.=,ENST00000406732,;MTMR11,synonymous_variant,p.=,ENST00000369140,NM_181873.3;MTMR11,intron_variant,,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,,ENST00000493562,;MTMR11,intron_variant,,ENST00000466496,;MTMR11,upstream_gene_variant,,ENST00000490310,;MTMR11,upstream_gene_variant,,ENST00000495054,;MTMR11,downstream_gene_variant,,ENST00000479272,;MTMR11,intron_variant,,ENST00000482343,;							LOW	909/2130		MTMRB_HUMAN			Transcript			.	ENSP00000391668		CCDS53360.1			1	
GREB1	0	LGGM	GRCh37	2	11718445	11718445	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	42	45	.	.	ENST00000381486.2:c.660C>T	p.Pro220=	p.P220=	ENST00000381486	NM_014668.3	220	ccC/ccT	0	1		UPI0000163937	0		ENST00000234142		ENSG00000196208	24885	8.64E-05	87			HGNC	p.P220P	rs374177379	GREB1	6.10E-05	SNV	T:0						ENST00000234142	protein_coding		T:0	hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		P	T:0.0001	T		922/8444	3.00E-05				T:0.0014	T:0		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,synonymous_variant,p.=,ENST00000389825,;		T:0.0004					LOW	660/5850		GREB1_HUMAN		T:0	Transcript			.	ENSP00000234142	3.29E-05	CCDS42655.1		T:0.001	1	
PRKDC	0	LGGM	GRCh37	8	48744408	48744408	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	78	46	.	.	ENST00000314191.2:c.8229C>T	p.Ala2743=	p.A2743=	ENST00000314191	NM_006904.6	2743	gcC/gcT	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		124			HGNC	p.A2743A		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54		A		A		8286/13506				F5GX40_HUMAN			YES	PRKDC,synonymous_variant,p.=,ENST00000314191,NM_006904.6;PRKDC,synonymous_variant,p.=,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;							LOW	8229/12384		PRKDC_HUMAN			Transcript			.	ENSP00000313420					1	
GLB1L2	0	LGGM	GRCh37	11	134244582	134244582	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	66	48	.	.	ENST00000535456.2:c.1794A>G	p.Pro598=	p.P598=	ENST00000535456	NM_138342.3	598	ccA/ccG	0	1		UPI0000074534	0		ENST00000339772		ENSG00000149328	25129		114			HGNC	p.P598P		GLB1L2		SNV							ENST00000535456	protein_coding			Gene3D:2.60.120.260,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF53,Superfamily_domains:SSF49785		P		G		1982/3152				Q8NCG3_HUMAN				GLB1L2,synonymous_variant,p.=,ENST00000535456,NM_138342.3;GLB1L2,synonymous_variant,p.=,ENST00000389881,;GLB1L2,synonymous_variant,p.=,ENST00000339772,;GLB1L2,synonymous_variant,p.=,ENST00000525089,;B3GAT1,downstream_gene_variant,,ENST00000312527,NM_054025.2;B3GAT1,downstream_gene_variant,,ENST00000392580,NM_018644.3;GLB1L2,downstream_gene_variant,,ENST00000533324,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,downstream_gene_variant,,ENST00000533355,;B3GAT1,downstream_gene_variant,,ENST00000531778,;							LOW	1794/1911		GLBL2_HUMAN			Transcript			.	ENSP00000344659		CCDS31724.1			1	
SMIM19	0	LGGM	GRCh37	8	42407728	42407729	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	by Submitter	H093867	H093867N.bam	AG	AG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	65	49	.	.	ENST00000438528.3:c.301_302del	p.Ser101CysfsTer29	p.S101Cfs*29	ENST00000438528	NM_001135676.1	101	AGt/t	0	1		UPI00002109C4	0		ENST00000414154		ENSG00000176209	25166		114			HGNC	p.101_101del		SMIM19		deletion							ENST00000414154	protein_coding			hmmpanther:PTHR31888:SF1,hmmpanther:PTHR31888,Pfam_domain:PF15117		S/X		-		398-399/793				E5RKA7_HUMAN				SMIM19,frameshift_variant,p.Ser101CysfsTer29,ENST00000438528,NM_001135676.1;SMIM19,frameshift_variant,p.Ser101CysfsTer29,ENST00000417410,NM_001135675.1,NM_001135674.1;SMIM19,frameshift_variant,p.Ser101CysfsTer29,ENST00000414154,NM_138436.3;SMIM19,frameshift_variant,p.Ser101CysfsTer?,ENST00000416469,;SMIM19,frameshift_variant,p.Ser101CysfsTer29,ENST00000490331,;SMIM19,downstream_gene_variant,,ENST00000518574,;RP11-503E24.3,upstream_gene_variant,,ENST00000607533,;SMIM19,downstream_gene_variant,,ENST00000529505,;SMIM19,3_prime_UTR_variant,,ENST00000498447,;							HIGH	301-302/324		SMI19_HUMAN			Transcript			.	ENSP00000408997		CCDS6133.2			1	
WARS	0	LGGM	GRCh37	14	100803457	100803457	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	150	50	.	.	ENST00000355338.2:c.1196C>G	p.Ser399Cys	p.S399C	ENST00000355338	NM_173701.1	399	tCt/tGt	0	1	1	UPI0000000E0E	0	getma.org/pdb.php?prot=SYWC_HUMAN&from=151&to=443&var=S399C	ENST00000355338		ENSG00000140105	12729		200	2.8		HGNC	p.S399C		WARS		SNV							ENST00000557135	protein_coding	getma.org/?cm=var&var=hg19,14,100803457,G,C&fts=all		hmmpanther:PTHR10055:SF1,hmmpanther:PTHR10055,Pfam_domain:PF00579,Gene3D:1.10.240.10,TIGRFAM_domain:TIGR00233,Superfamily_domains:SSF52374		S/C		C	medium	1815/3092		getma.org/?cm=msa&ty=f&p=SYWC_HUMAN&rb=151&re=443&var=S399C	deleterious(0.03)	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			YES	WARS,missense_variant,p.Ser399Cys,ENST00000355338,NM_173701.1;WARS,missense_variant,p.Ser399Cys,ENST00000392882,NM_004184.3;WARS,missense_variant,p.Ser358Cys,ENST00000344102,NM_213646.1;WARS,missense_variant,p.Ser358Cys,ENST00000556645,;WARS,missense_variant,p.Ser358Cys,ENST00000358655,NM_213645.1;WARS,missense_variant,p.Ser399Cys,ENST00000557135,;WARS,downstream_gene_variant,,ENST00000554601,;RP11-638I2.8,intron_variant,,ENST00000557226,;RP11-638I2.9,upstream_gene_variant,,ENST00000556212,;WARS,non_coding_transcript_exon_variant,,ENST00000554950,;WARS,non_coding_transcript_exon_variant,,ENST00000557614,;							MODERATE	1196/1416	S399C	SYWC_HUMAN			Transcript		benign(0.443)	.	ENSP00000347495		CCDS9960.1			1	
MSH3	0	LGGM	GRCh37	5	79974904	79974904	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	84	53	.	.	ENST00000265081.6:c.1332A>G	p.Thr444=	p.T444=	ENST00000265081	NM_002439.4	444	acA/acG	0	1	1	UPI0000DBEE85	0		ENST00000265081		ENSG00000113318	7326		137			HGNC	p.T444T		MSH3		SNV			1				ENST00000265081	protein_coding			Gene3D:3.30.420.110,Pfam_domain:PF05188,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF34		T		G		1412/4092							YES	MSH3,synonymous_variant,p.=,ENST00000265081,NM_002439.4;							LOW	1332/3414		MSH3_HUMAN			Transcript			.	ENSP00000265081		CCDS34195.1			1	
FMO3	0	LGGM	GRCh37	1	171076958	171076958	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	43	53	.	.	ENST00000367755.4:c.464T>G	p.Leu155Arg	p.L155R	ENST00000367755	NM_001002294.2	155	cTa/cGa	0	1	1	UPI000016A103	0	getma.org/pdb.php?prot=FMO3_HUMAN&from=2&to=532&var=L155R	ENST00000367755		ENSG00000007933	3771		96	2.72		HGNC	p.L135R		FMO3		SNV			1				ENST00000542847	protein_coding	getma.org/?cm=var&var=hg19,1,171076958,T,G&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44,Superfamily_domains:SSF51905		L/R		G	medium	575/2087		getma.org/?cm=msa&ty=f&p=FMO3_HUMAN&rb=2&re=532&var=L155R	deleterious(0)				YES	FMO3,missense_variant,p.Leu155Arg,ENST00000367755,NM_001002294.2;FMO3,missense_variant,p.Leu155Arg,ENST00000392085,NM_006894.5;FMO3,missense_variant,p.Leu135Arg,ENST00000542847,;FMO3,missense_variant,p.Leu92Arg,ENST00000538429,;FMO3,missense_variant,p.Leu155Arg,ENST00000479749,;FMO3,downstream_gene_variant,,ENST00000478457,;FMO3,downstream_gene_variant,,ENST00000472784,;							MODERATE	464/1599	L155R	FMO3_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000356729		CCDS1292.1			1	
LRRIQ3	0	LGGM	GRCh37	1	74507203	74507203	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093867	H093867N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	60	54	.	.	ENST00000354431.4:c.1412T>A	p.Leu471Gln	p.L471Q	ENST00000354431	NM_001105659.1	471	cTa/cAa	0	1	1	UPI000155D493	0	NA	ENST00000354431		ENSG00000162620	28318		114	0.975		HGNC	p.L471Q		LRRIQ3		SNV							ENST00000354431	protein_coding	getma.org/?cm=var&var=hg19,1,74507203,A,T&fts=all		hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF206		L/Q		T	low	1604/2849		getma.org/?cm=msa&ty=f&p=LRIQ3_HUMAN&rb=318&re=517&var=L471Q	tolerated(0.42)				YES	LRRIQ3,missense_variant,p.Leu471Gln,ENST00000354431,NM_001105659.1;LRRIQ3,missense_variant,p.Leu471Gln,ENST00000395089,;LRRIQ3,intron_variant,,ENST00000417067,;LRRIQ3,intron_variant,,ENST00000415760,;							MODERATE	1412/1875	L471Q	LRIQ3_HUMAN			Transcript		benign(0.066)	.	ENSP00000346414		CCDS41350.1			1	
SLC22A5	0	LGGM	GRCh37	5	131722736	131722736	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093867	H093867N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	81	59	.	.	ENST00000245407.3:c.844C>A	p.Arg282=	p.R282=	ENST00000245407	NM_003060.3	282	Cga/Aga	0	1	1	UPI0000130BB6	0		ENST00000245407		ENSG00000197375	10969		140			HGNC	p.R306R		SLC22A5		SNV			1				ENST00000435065	protein_coding			Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00898,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF5,PROSITE_profiles:PS50850		R		A		1065/3237							YES	SLC22A5,synonymous_variant,p.=,ENST00000245407,NM_003060.3;SLC22A5,synonymous_variant,p.=,ENST00000435065,;SLC22A5,synonymous_variant,p.=,ENST00000415928,;SLC22A5,upstream_gene_variant,,ENST00000479605,;SLC22A5,synonymous_variant,p.=,ENST00000448810,;SLC22A5,3_prime_UTR_variant,,ENST00000437841,;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,;SLC22A5,upstream_gene_variant,,ENST00000475308,;SLC22A5,upstream_gene_variant,,ENST00000447841,;							LOW	844/1674		S22A5_HUMAN			Transcript			.	ENSP00000245407		CCDS4154.1			1	
DNAH10	0	LGGM	GRCh37	12	124305237	124305237	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	74	61	.	.	ENST00000409039.3:c.3757G>T	p.Glu1253Ter	p.E1253*	ENST00000409039	NM_207437.3	1253	Gag/Tag	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		135	0		HGNC	p.E1253X		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124305237,G,T&fts=all		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		E/*		T	NA	3782/14166		NA					YES	DNAH10,stop_gained,p.Glu1253Ter,ENST00000409039,NM_207437.3;							HIGH	3757/13416	E1253*	DYH10_HUMAN			Transcript			.	ENSP00000386770		CCDS9255.2			1	
FAM217A	0	LGGM	GRCh37	6	4069285	4069285	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	89	65	.	.	ENST00000274673.3:c.1172C>A	p.Thr391Asn	p.T391N	ENST00000274673	NM_173563.2	391	aCc/aAc	0	1	1	UPI0000160AA7	0	NA	ENST00000274673		ENSG00000145975	21362		154	1.935		HGNC	p.T519N		FAM217A		SNV							ENST00000470599	protein_coding	getma.org/?cm=var&var=hg19,6,4069285,G,T&fts=all		Pfam_domain:PF15344,hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF4		T/N		T	medium	1576/2265		getma.org/?cm=msa&ty=f&p=F217A_HUMAN&rb=201&re=400&var=T391N	deleterious(0)	C9J6U0_HUMAN,C9J5H0_HUMAN			YES	FAM217A,missense_variant,p.Thr391Asn,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,;							MODERATE	1172/1527	T391N	F217A_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000274673		CCDS4489.1			1	
FAM217A	0	LGGM	GRCh37	6	4069286	4069286	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	90	65	.	.	ENST00000274673.3:c.1171A>C	p.Thr391Pro	p.T391P	ENST00000274673	NM_173563.2	391	Acc/Ccc	0	1	1	UPI0000160AA7	0	NA	ENST00000274673		ENSG00000145975	21362		155	1.935		HGNC	p.T519P		FAM217A		SNV							ENST00000470599	protein_coding	getma.org/?cm=var&var=hg19,6,4069286,T,G&fts=all		Pfam_domain:PF15344,hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF4		T/P		G	medium	1575/2265		getma.org/?cm=msa&ty=f&p=F217A_HUMAN&rb=201&re=400&var=T391P	deleterious(0)	C9J6U0_HUMAN,C9J5H0_HUMAN			YES	FAM217A,missense_variant,p.Thr391Pro,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,;							MODERATE	1171/1527	T391P	F217A_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000274673		CCDS4489.1			1	
ZNF230	0	LGGM	GRCh37	19	44513294	44513294	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093867	H093867N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	58	66	.	.	ENST00000429154.2:c.201G>A	p.Glu67=	p.E67=	ENST00000429154	NM_006300.3	67	gaG/gaA	0	1	1	UPI000016960C	0		ENST00000429154		ENSG00000159882	13024		124			HGNC	p.E67E		ZNF230		SNV							ENST00000585491	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF176		E		A		429/4115				K7EMK6_HUMAN			YES	ZNF230,synonymous_variant,p.=,ENST00000429154,NM_006300.3;ZNF230,synonymous_variant,p.=,ENST00000585491,;ZNF230,synonymous_variant,p.=,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;ZNF230,downstream_gene_variant,,ENST00000589275,;							LOW	201/1425		ZN230_HUMAN			Transcript			.	ENSP00000409318		CCDS33044.1			1	
CSMD3	0	LGGM	GRCh37	8	113246666	113246666	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H093867	H093867N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093867N.bam, H093867T.bam	Illumina HiSeq	48	74	.	.	ENST00000297405.5:c.10668A>T	p.Ile3556=	p.I3556=	ENST00000297405	NM_198123.1	3556	atA/atT	0	1	1	UPI00001E0584	0		ENST00000297405		ENSG00000164796	19291		122			HGNC	p.I3387I		CSMD3		SNV							ENST00000455883	protein_coding			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44		I		A		10913/13212							YES	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000352409,;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;CSMD3,non_coding_transcript_exon_variant,,ENST00000534172,;							LOW	10668/11124		CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
FTH1	0	LGGM	GRCh37	11	61734841	61734841	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	7	2	.	.	ENST00000273550.7:c.57C>A	p.Ala19=	p.A19=	ENST00000273550	NM_002032.2	19	gcC/gcA	0	1	1	UPI000000122C	0		ENST00000273550		ENSG00000167996	3976		9			HGNC	p.A19A		FTH1		SNV			1				ENST00000530019	protein_coding			PROSITE_profiles:PS50905,hmmpanther:PTHR11431,hmmpanther:PTHR11431:SF37,Gene3D:1.20.1260.10,Pfam_domain:PF00210,Superfamily_domains:SSF47240		A		T		292/1229				Q6NS36_HUMAN,G3V1D1_HUMAN,E9PPQ4_HUMAN,A9JQE1_HUMAN			YES	FTH1,splice_region_variant,,ENST00000529548,;FTH1,synonymous_variant,p.=,ENST00000273550,NM_002032.2;FTH1,synonymous_variant,p.=,ENST00000530019,;FTH1,synonymous_variant,p.=,ENST00000529191,;FTH1,synonymous_variant,p.=,ENST00000529631,;FTH1,intron_variant,,ENST00000526640,;BEST1,downstream_gene_variant,,ENST00000449131,NM_001139443.1;BEST1,downstream_gene_variant,,ENST00000378043,NM_004183.3;BEST1,downstream_gene_variant,,ENST00000378042,;BEST1,downstream_gene_variant,,ENST00000534553,;BEST1,downstream_gene_variant,,ENST00000301774,;AP003733.1,upstream_gene_variant,,ENST00000601917,;BEST1,downstream_gene_variant,,ENST00000526988,;BEST1,downstream_gene_variant,,ENST00000435278,;FTH1,upstream_gene_variant,,ENST00000532601,;FTH1,synonymous_variant,p.=,ENST00000534180,;FTH1,synonymous_variant,p.=,ENST00000532829,;FTH1,non_coding_transcript_exon_variant,,ENST00000533138,;FTH1,non_coding_transcript_exon_variant,,ENST00000534719,;BEST1,downstream_gene_variant,,ENST00000524877,;BEST1,downstream_gene_variant,,ENST00000524926,;							LOW	57/552		FRIH_HUMAN			Transcript			.	ENSP00000273550		CCDS41655.1			1	
HIC1	0	LGGM	GRCh37	17	1961841	1961841	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	2	2	.	.	ENST00000322941.3:c.1914C>A	p.Asp638Glu	p.D638E	ENST00000322941	NM_001098202.1	638	gaC/gaA	0	1	1	UPI0000140F7F	0	NA	ENST00000322941		ENSG00000177374	4909		4	0.805		HGNC	p.D638E		HIC1		SNV			1				ENST00000322941	protein_coding	getma.org/?cm=var&var=hg19,17,1961841,C,A&fts=all		Low_complexity_(Seg):seg		D/E		A	low	1914/3053		getma.org/?cm=msa&ty=f&p=HIC1_HUMAN&rb=603&re=733&var=D638E	tolerated(0.06)	O95459_HUMAN,K7ENQ1_HUMAN,I3L388_HUMAN			YES	HIC1,missense_variant,p.Asp619Glu,ENST00000399849,NM_006497.3;HIC1,missense_variant,p.Asp638Glu,ENST00000322941,NM_001098202.1;SMG6,downstream_gene_variant,,ENST00000544865,;SMG6,downstream_gene_variant,,ENST00000263073,NM_017575.4;SMG6,downstream_gene_variant,,ENST00000354901,NM_001256827.1;SMG6,downstream_gene_variant,,ENST00000536871,NM_001256828.1;HIC1,downstream_gene_variant,,ENST00000574370,;HIC1,downstream_gene_variant,,ENST00000571875,;HIC1,downstream_gene_variant,,ENST00000576444,;HIC1,downstream_gene_variant,,ENST00000571990,;SMG6,downstream_gene_variant,,ENST00000573166,;SMG6,downstream_gene_variant,,ENST00000570756,;SMG6,downstream_gene_variant,,ENST00000576218,;SMG6,downstream_gene_variant,,ENST00000573827,;SMG6,downstream_gene_variant,,ENST00000573153,;SMG6,downstream_gene_variant,,ENST00000574501,;							MODERATE	1914/2202	D638E	HIC1_HUMAN			Transcript		possibly_damaging(0.84)	.	ENSP00000314080		CCDS42229.1			1	
NFASC	0	LGGM	GRCh37	1	204949531	204949531	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	5	2	.	.	ENST00000339876.6:c.2210A>G	p.Glu737Gly	p.E737G	ENST00000339876	NM_001005388.2	737	gAg/gGg	0	1	1	UPI0000237208	0	getma.org/pdb.php?prot=NFASC_HUMAN&from=729&to=813&var=E737G	ENST00000339876		ENSG00000163531	29866		7	0.95		HGNC	p.E733G		NFASC		SNV							ENST00000360049	protein_coding	getma.org/?cm=var&var=hg19,1,204949531,A,G&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,Pfam_domain:PF00041,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50853		E/G		G	low	2538/10333		getma.org/?cm=msa&ty=f&p=NFASC_HUMAN&rb=729&re=813&var=E737G	tolerated(0.33)	D6RHX4_HUMAN			YES	NFASC,missense_variant,p.Glu737Gly,ENST00000367172,;NFASC,missense_variant,p.Glu722Gly,ENST00000367171,;NFASC,missense_variant,p.Glu737Gly,ENST00000367170,;NFASC,missense_variant,p.Glu737Gly,ENST00000338515,;NFASC,missense_variant,p.Glu737Gly,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Glu737Gly,ENST00000338586,;NFASC,missense_variant,p.Glu737Gly,ENST00000401399,;NFASC,missense_variant,p.Glu733Gly,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Glu733Gly,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Glu737Gly,ENST00000367169,;NFASC,missense_variant,p.Glu716Gly,ENST00000404076,;NFASC,missense_variant,p.Glu733Gly,ENST00000404907,;NFASC,missense_variant,p.Glu724Gly,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Glu707Gly,ENST00000367173,;NFASC,missense_variant,p.Glu733Gly,ENST00000513543,;NFASC,upstream_gene_variant,,ENST00000425360,;NFASC,downstream_gene_variant,,ENST00000403080,NM_001005389.1,NM_001160333.1;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,non_coding_transcript_exon_variant,,ENST00000471392,;NFASC,upstream_gene_variant,,ENST00000468328,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;							MODERATE	2210/3723	E737G	NFASC_HUMAN			Transcript		possibly_damaging(0.76)	.	ENSP00000344786		CCDS53460.1			1	
FZD9	0	LGGM	GRCh37	7	72848724	72848724	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	5	2	.	.	ENST00000344575.3:c.387C>G	p.Phe129Leu	p.F129L	ENST00000344575	NM_003508.2	129	ttC/ttG	0	1	1	UPI000004EC98	0	getma.org/pdb.php?prot=FZD9_HUMAN&from=39&to=153&var=F129L	ENST00000344575		ENSG00000188763	4047		7	2.21		HGNC	p.F129L		FZD9		SNV							ENST00000344575	protein_coding	getma.org/?cm=var&var=hg19,7,72848724,C,G&fts=all		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79,SMART_domains:SM00063,Superfamily_domains:SSF63501		F/L		G	medium	616/2342		getma.org/?cm=msa&ty=f&p=FZD9_HUMAN&rb=39&re=153&var=F129L	deleterious(0)				YES	FZD9,missense_variant,p.Phe129Leu,ENST00000344575,NM_003508.2;							MODERATE	387/1776	F129L	FZD9_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000345785		CCDS5548.1			1	
GTSE1	0	LGGM	GRCh37	22	46722333	46722333	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	13	2	.	.	ENST00000454366.1:c.1506G>C	p.Arg502Ser	p.R502S	ENST00000454366	NM_016426.6	502	agG/agC	0	1	1	UPI000021D19B	0	NA	ENST00000454366		ENSG00000075218	13698		15	1.345		HGNC	p.R502S		GTSE1		SNV							ENST00000454366	protein_coding	getma.org/?cm=var&var=hg19,22,46722333,G,C&fts=all		hmmpanther:PTHR21584:SF8,hmmpanther:PTHR21584		R/S		C	low	1718/3112		getma.org/?cm=msa&ty=f&p=GTSE1_HUMAN&rb=401&re=600&var=R483S	tolerated(0.12)				YES	GTSE1,missense_variant,p.Arg502Ser,ENST00000454366,NM_016426.6;TRMU,upstream_gene_variant,,ENST00000476901,;GTSE1,splice_region_variant,,ENST00000466510,;GTSE1,splice_region_variant,,ENST00000479645,;GTSE1,upstream_gene_variant,,ENST00000491863,;							MODERATE	1506/2220	R483S	GTSE1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000415430		CCDS14074.2			1	
SLC4A5	0	LGGM	GRCh37	2	74483059	74483059	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	12	2	.	.	ENST00000377634.4:c.868C>A	p.Arg290=	p.R290=	ENST00000377634		290	Cgg/Agg	0	1		UPI000007386D	0		ENST00000346834		ENSG00000188687	18168		14			HGNC	p.R226R		SLC4A5		SNV							ENST00000359484	protein_coding			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Pfam_domain:PF07565,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804		R		T		1266/6104				Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,splice_region_variant,p.=,ENST00000394019,NM_133478.2;SLC4A5,splice_region_variant,p.=,ENST00000423644,;SLC4A5,splice_region_variant,p.=,ENST00000346834,;SLC4A5,splice_region_variant,p.=,ENST00000359484,;SLC4A5,splice_region_variant,p.=,ENST00000377634,;SLC4A5,splice_region_variant,p.=,ENST00000357822,NM_021196.3;SLC4A5,splice_region_variant,p.=,ENST00000358683,;SLC4A5,splice_region_variant,p.=,ENST00000377632,;SLC4A5,splice_region_variant,p.=,ENST00000425249,;SLC4A5,splice_region_variant,,ENST00000483195,;RP11-287D1.3,splice_region_variant,,ENST00000451608,;							LOW	868/3123		S4A5_HUMAN			Transcript			.	ENSP00000251768					1	
SYNJ2BP	0	LGGM	GRCh37	14	70855219	70855219	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	40	3	.	.	ENST00000256366.4:c.169G>T	p.Gly57Trp	p.G57W	ENST00000256366	NM_018373.2	57	Ggg/Tgg	0	1	1	UPI00000373B1	0	getma.org/pdb.php?prot=SYJ2B_HUMAN&from=13&to=97&var=G57W	ENST00000256366		ENSG00000213463	18955		43	4.225		HGNC	p.G57W		SYNJ2BP		SNV							ENST00000256366	protein_coding	getma.org/?cm=var&var=hg19,14,70855219,C,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR17130,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		G/W		A	high	251/2080		getma.org/?cm=msa&ty=f&p=SYJ2B_HUMAN&rb=13&re=97&var=G57W	deleterious(0)				YES	SYNJ2BP,missense_variant,p.Gly57Trp,ENST00000256366,NM_018373.2;SYNJ2BP,intron_variant,,ENST00000554216,;SYNJ2BP-COX16,intron_variant,,ENST00000555276,;							MODERATE	169/438	G57W	SYJ2B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256366		CCDS9803.1			1	
CCDC108	0	LGGM	GRCh37	2	219896342	219896342	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	46	3	.	.	ENST00000341552.5:c.684G>T	p.Glu228Asp	p.E228D	ENST00000341552	NM_194302.3	228	gaG/gaT	0	1	1	UPI0000609097	0	NA	ENST00000341552		ENSG00000181378	25325		49	2.075		HGNC	p.E228D		CCDC108		SNV							ENST00000453220	protein_coding	getma.org/?cm=var&var=hg19,2,219896342,C,A&fts=all		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF197		E/D		A	medium	768/5953		getma.org/?cm=msa&ty=f&p=CC108_HUMAN&rb=131&re=569&var=E228D	tolerated(0.06)	C9JLP9_HUMAN,C9JIV0_HUMAN			YES	CCDC108,missense_variant,p.Glu228Asp,ENST00000341552,NM_194302.3;CCDC108,missense_variant,p.Glu228Asp,ENST00000441968,;CCDC108,missense_variant,p.Glu228Asp,ENST00000453220,;CCDC108,missense_variant,p.Glu217Asp,ENST00000409865,NM_001278295.1;CCDC108,missense_variant,p.Glu163Asp,ENST00000410037,NM_001278296.1;CCDC108,intron_variant,,ENST00000457968,;CCDC108,downstream_gene_variant,,ENST00000295729,NM_152389.3;CCDC108,downstream_gene_variant,,ENST00000324264,;CCDC108,downstream_gene_variant,,ENST00000458526,;CCDC108,downstream_gene_variant,,ENST00000436631,;CCDC108,intron_variant,,ENST00000462848,;CCDC108,intron_variant,,ENST00000463683,;CCDC108,upstream_gene_variant,,ENST00000474601,;							MODERATE	684/5778	E228D	CC108_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000340776		CCDS2430.2			1	
CGNL1	0	LGGM	GRCh37	15	57732598	57732598	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	12	3	.	.	ENST00000281282.5:c.1626C>A	p.Gly542=	p.G542=	ENST00000281282	NM_032866.4	542	ggC/ggA	0	1	1	UPI000019B4EF	0		ENST00000281282		ENSG00000128849	25931		15			HGNC	p.G542G		CGNL1		SNV			1				ENST00000281282	protein_coding			hmmpanther:PTHR13140:SF357,hmmpanther:PTHR13140		G		A		1704/7224							YES	CGNL1,synonymous_variant,p.=,ENST00000281282,NM_032866.4,NM_001252335.1;CGNL1,downstream_gene_variant,,ENST00000559194,;							LOW	1626/3909		CGNL1_HUMAN			Transcript			.	ENSP00000281282		CCDS10161.1			1	
GEM	0	LGGM	GRCh37	8	95272498	95272498	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	38	3	.	.	ENST00000297596.2:c.234G>T	p.Val78=	p.V78=	ENST00000297596	NM_005261.3	78	gtG/gtT	0	1	1	UPI000012B3BC	0		ENST00000297596		ENSG00000164949	4234		41			HGNC	p.V78V		GEM		SNV							ENST00000297596	protein_coding			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		V		A		499/2208				E5RJF9_HUMAN			YES	GEM,synonymous_variant,p.=,ENST00000297596,NM_005261.3;GEM,synonymous_variant,p.=,ENST00000396194,NM_181702.2;GEM,synonymous_variant,p.=,ENST00000523433,;GEM,non_coding_transcript_exon_variant,,ENST00000523660,;GEM,non_coding_transcript_exon_variant,,ENST00000521817,;							LOW	234/891		GEM_HUMAN			Transcript			.	ENSP00000297596		CCDS6261.1			1	
LRRC72	0	LGGM	GRCh37	7	16598556	16598556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	47	3	.	.	ENST00000401542.2:c.359A>G	p.His120Arg	p.H120R	ENST00000401542	NM_001195280.1	120	cAc/cGc	0	1	1	UPI000173A227	0	getma.org/pdb.php?prot=LRC72_HUMAN&from=1&to=200&var=H120R	ENST00000401542		ENSG00000205858	42972		50	1.08		HGNC	p.H120R		LRRC72		SNV							ENST00000401542	protein_coding	getma.org/?cm=var&var=hg19,7,16598556,A,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51450,hmmpanther:PTHR10552:SF11,hmmpanther:PTHR10552,Gene3D:3.80.10.10,Pfam_domain:PF14580,Superfamily_domains:SSF52058		H/R		G	low	416/1000		getma.org/?cm=msa&ty=f&p=LRC72_HUMAN&rb=1&re=200&var=H120R	tolerated(0.15)				YES	LRRC72,missense_variant,p.His120Arg,ENST00000401542,NM_001195280.1;							MODERATE	359/864	H120R	LRC72_HUMAN			Transcript		benign(0.028)	.	ENSP00000384971		CCDS56464.1			1	
MELK	0	LGGM	GRCh37	9	36677266	36677266	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	20	3	.	.	ENST00000298048.2:c.1888C>A	p.Arg630=	p.R630=	ENST00000298048	NM_014791.3	630	Cgg/Agg	0	1	1	UPI000004776B	0		ENST00000298048		ENSG00000165304	16870		23			HGNC	p.R582R		MELK		SNV							ENST00000536860	protein_coding			Superfamily_domains:SSF103243,Pfam_domain:PF02149,Gene3D:3.30.310.80,hmmpanther:PTHR24343:SF127,hmmpanther:PTHR24343,PROSITE_profiles:PS50032		R		A		2072/2309				A7BG63_HUMAN			YES	MELK,synonymous_variant,p.=,ENST00000543751,NM_001256689.1;MELK,synonymous_variant,p.=,ENST00000298048,NM_014791.3;MELK,synonymous_variant,p.=,ENST00000541717,NM_001256685.1;MELK,synonymous_variant,p.=,ENST00000536860,NM_001256691.1,NM_001256687.1;MELK,synonymous_variant,p.=,ENST00000538311,;MELK,synonymous_variant,p.=,ENST00000545008,NM_001256688.1;MELK,synonymous_variant,p.=,ENST00000536329,NM_001256690.1;MELK,synonymous_variant,p.=,ENST00000536987,NM_001256693.1,NM_001256692.1;							LOW	1888/1956		MELK_HUMAN			Transcript			.	ENSP00000298048		CCDS6606.1			1	
ENAH	0	LGGM	GRCh37	1	225685508	225685508	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	26	3	.	.	ENST00000366844.3:c.1745G>T	p.Arg582Met	p.R582M	ENST00000366844	NM_001008493.1	582	aGg/aTg	0	1	1	UPI0000203FDB	0	getma.org/pdb.php?prot=ENAH_HUMAN&from=551&to=590&var=R582M	ENST00000366844		ENSG00000154380	18271		29	1.545		HGNC	p.R561M		ENAH		SNV							ENST00000366843	protein_coding	getma.org/?cm=var&var=hg19,1,225685508,C,A&fts=all		Superfamily_domains:0053530,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08776,hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF1		R/M		A	low	2197/13168		getma.org/?cm=msa&ty=f&p=ENAH_HUMAN&rb=551&re=590&var=R582M	deleterious(0)				YES	ENAH,missense_variant,p.Arg582Met,ENST00000366844,NM_001008493.1,NM_018212.4;ENAH,missense_variant,p.Arg808Met,ENST00000284563,;ENAH,missense_variant,p.Arg561Met,ENST00000366843,;ENAH,intron_variant,,ENST00000488523,;ENAH,non_coding_transcript_exon_variant,,ENST00000358675,;ENAH,non_coding_transcript_exon_variant,,ENST00000498108,;ENAH,non_coding_transcript_exon_variant,,ENST00000483952,;							MODERATE	1745/1776	R582M	ENAH_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000355809		CCDS31041.1			1	
LYST	0	LGGM	GRCh37	1	235916385	235916385	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	47	3	.	.	ENST00000389794.3:c.7419G>T	p.Val2473=	p.V2473=	ENST00000389794		2473	gtG/gtT	0	1		UPI000020509E	0		ENST00000389793		ENSG00000143669	1968		50			HGNC	p.V2473V		LYST		SNV			1				ENST00000389794	protein_coding			hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF60		V		A		7594/13471								LYST,synonymous_variant,p.=,ENST00000389794,;LYST,synonymous_variant,p.=,ENST00000389793,NM_000081.3;LYST,upstream_gene_variant,,ENST00000487530,;							LOW	7419/11406		LYST_HUMAN			Transcript			.	ENSP00000374443		CCDS31062.1			1	
MAP1B	0	LGGM	GRCh37	5	71492530	71492530	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	30	3	.	.	ENST00000296755.7:c.3348C>A	p.Thr1116=	p.T1116=	ENST00000296755	NM_005909.3	1116	acC/acA	0	1	1	UPI000013E382	0		ENST00000296755		ENSG00000131711	6836		33			HGNC	p.T1116T		MAP1B		SNV							ENST00000296755	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		T		A		3646/12034				D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							LOW	3348/7407		MAP1B_HUMAN			Transcript			.	ENSP00000296755		CCDS4012.1			1	
LTBP2	0	LGGM	GRCh37	14	75078271	75078271	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	8	3	.	.	ENST00000261978.4:c.377C>A	p.Pro126His	p.P126H	ENST00000261978	NM_000428.2	126	cCc/cAc	0	1	1	UPI000013D239	0	NA	ENST00000261978		ENSG00000119681	6715		11	0.695		HGNC	p.P126H		LTBP2		SNV			1				ENST00000556690	protein_coding	getma.org/?cm=var&var=hg19,14,75078271,G,T&fts=all				P/H		T	neutral	764/8567		getma.org/?cm=msa&ty=f&p=LTBP2_HUMAN&rb=1&re=139&var=P126H	tolerated(0.07)	G3V254_HUMAN			YES	LTBP2,missense_variant,p.Pro126His,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Pro126His,ENST00000556690,;LTBP2,intron_variant,,ENST00000556359,;CTD-2207P18.2,downstream_gene_variant,,ENST00000556652,;CTD-2207P18.2,downstream_gene_variant,,ENST00000555313,;LTBP2,intron_variant,,ENST00000557425,;LTBP2,missense_variant,p.Pro126His,ENST00000553939,;							MODERATE	377/5466	P126H	LTBP2_HUMAN			Transcript		benign(0.285)	.	ENSP00000261978		CCDS9831.1			1	
ME3	0	LGGM	GRCh37	11	86267716	86267716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	36	3	.	.	ENST00000543262.1:c.346C>T	p.Arg116Trp	p.R116W	ENST00000543262	NM_001161586.1	116	Cgg/Tgg	0	1		UPI000013DC4F	0	getma.org/pdb.php?prot=MAON_HUMAN&from=114&to=295&var=R116W	ENST00000393324		ENSG00000151376	6985		39	3.72		HGNC	p.R54W	rs777588552,COSM4037242	ME3		SNV						0,1	ENST00000323418	protein_coding	getma.org/?cm=var&var=hg19,11,86267716,G,A&fts=all		hmmpanther:PTHR23406:SF20,hmmpanther:PTHR23406,Gene3D:3.40.50.10380,Pfam_domain:PF00390,PIRSF_domain:PIRSF000106,Superfamily_domains:SSF53223		R/W		A	high	600/2240	1.50E-05	getma.org/?cm=msa&ty=f&p=MAON_HUMAN&rb=114&re=295&var=R116W	deleterious(0)	E9PQP5_HUMAN,E9PNN2_HUMAN,E9PMB9_HUMAN				ME3,missense_variant,p.Arg116Trp,ENST00000543262,NM_001161586.1;ME3,missense_variant,p.Arg116Trp,ENST00000393324,NM_001014811.1;ME3,missense_variant,p.Arg116Trp,ENST00000359636,NM_006680.2;ME3,missense_variant,p.Arg116Trp,ENST00000524826,;ME3,missense_variant,p.Arg116Trp,ENST00000530335,;ME3,missense_variant,p.Arg54Trp,ENST00000323418,;RP11-317J19.1,intron_variant,,ENST00000524610,;ME3,missense_variant,p.Arg116Trp,ENST00000526504,;ME3,non_coding_transcript_exon_variant,,ENST00000530520,;					0,1		MODERATE	346/1815	R116W	MAON_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000376998	8.24E-06	CCDS8277.1			1	
PREX1	0	LGGM	GRCh37	20	47244440	47244440	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	9	3	.	.	ENST00000371941.3:c.4828C>G	p.Pro1610Ala	p.P1610A	ENST00000371941	NM_020820.3	1610	Ccc/Gcc	0	1	1	UPI000013D375	0	NA	ENST00000371941		ENSG00000124126	32594		12	2.31		HGNC	p.P1610A		PREX1		SNV							ENST00000371941	protein_coding	getma.org/?cm=var&var=hg19,20,47244440,G,C&fts=all		hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF6		P/A		C	medium	4851/6636		getma.org/?cm=msa&ty=f&p=PREX1_HUMAN&rb=766&re=1657&var=P1610A	deleterious(0.01)				YES	PREX1,missense_variant,p.Pro1610Ala,ENST00000371941,NM_020820.3;PREX1,3_prime_UTR_variant,,ENST00000396220,;PREX1,3_prime_UTR_variant,,ENST00000482556,;							MODERATE	4828/4980	P1610A	PREX1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000361009		CCDS13410.1			1	
PNKD	0	LGGM	GRCh37	2	219204767	219204767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	16	3	.	.	ENST00000273077.4:c.368C>A	p.Pro123His	p.P123H	ENST00000273077	NM_015488.4	123	cCc/cAc	0	1	1	UPI0000246C7E	0	NA	ENST00000273077		ENSG00000127838	9153		19	0.895		HGNC	p.P99H		PNKD		SNV			1				ENST00000258362	protein_coding	getma.org/?cm=var&var=hg19,2,219204767,C,A&fts=all		Superfamily_domains:SSF56281,Gene3D:3.60.15.10,TIGRFAM_domain:TIGR03413,hmmpanther:PTHR11935,hmmpanther:PTHR11935:SF88,HAMAP:MF_01374		P/H		A	low	419/3021		getma.org/?cm=msa&ty=f&p=PNKD_HUMAN&rb=90&re=124&var=P123H	tolerated(0.21)				YES	PNKD,missense_variant,p.Pro123His,ENST00000273077,NM_015488.4;PNKD,missense_variant,p.Pro99His,ENST00000258362,NM_022572.4;PNKD,missense_variant,p.Pro63His,ENST00000436005,;AC021016.8,intron_variant,,ENST00000411433,;PNKD,upstream_gene_variant,,ENST00000483797,;							MODERATE	368/1158	P123H	PNKD_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000273077		CCDS2411.1			1	
MGAT5B	0	LGGM	GRCh37	17	74934168	74934168	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	42	3	.	.	ENST00000428789.2:c.1554G>T	p.Val518=	p.V518=	ENST00000428789	NM_198955.1	518	gtG/gtT	0	1		UPI00001BFAF5	0		ENST00000569840		ENSG00000167889	24140		45			HGNC	p.E475X		MGAT5B		SNV							ENST00000565043	protein_coding			hmmpanther:PTHR15075:SF4,hmmpanther:PTHR15075,Pfam_domain:PF15024		V		T		2101/4492				H3BR20_HUMAN				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,stop_gained,p.Glu475Ter,ENST00000565043,;							LOW	1527/2379		MGT5B_HUMAN			Transcript			.	ENSP00000456037		CCDS59299.1			1	
MYOF	0	LGGM	GRCh37	10	95134567	95134567	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	40	3	.	.	ENST00000359263.4:c.2254G>A	p.Ala752Thr	p.A752T	ENST00000359263	NM_013451.3	752	Gca/Aca	0	1	1	UPI000012FBA1	0	NA	ENST00000359263		ENSG00000138119	3656		43	-0.625		HGNC	p.A752T		MYOF		SNV							ENST00000371501	protein_coding	getma.org/?cm=var&var=hg19,10,95134567,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38		A/T		T	neutral	2254/6719		getma.org/?cm=msa&ty=f&p=MYOF_HUMAN&rb=712&re=797&var=A752T	tolerated(0.51)				YES	MYOF,missense_variant,p.Ala752Thr,ENST00000371501,;MYOF,missense_variant,p.Ala752Thr,ENST00000371502,;MYOF,missense_variant,p.Ala752Thr,ENST00000359263,NM_013451.3;MYOF,missense_variant,p.Ala739Thr,ENST00000358334,NM_133337.2;MYOF,missense_variant,p.Ala127Thr,ENST00000463743,;							MODERATE	2254/6186	A752T	MYOF_HUMAN			Transcript		benign(0.001)	.	ENSP00000352208		CCDS41551.1			1	
TPO	0	LGGM	GRCh37	2	1497797	1497797	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	11	3	.	.	ENST00000345913.4:c.1992G>A	p.Leu664=	p.L664=	ENST00000345913	NM_000547.5	664	ctG/ctA	0	1		UPI000013D480	0		ENST00000329066		ENSG00000115705	12015		14			HGNC	p.L664L		TPO		SNV			1				ENST00000345913	protein_coding			Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		L		A		2075/3138				Q53QT2_HUMAN,C9J511_HUMAN				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.=,ENST00000337415,;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.=,ENST00000446278,;TPO,synonymous_variant,p.=,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;							LOW	1992/2802		PERT_HUMAN			Transcript			.	ENSP00000329869		CCDS1643.1			1	
CDH23	0	LGGM	GRCh37	10	73558330	73558330	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	12	3	.	.	ENST00000398788.3:c.329C>T	p.Ser110Leu	p.S110L	ENST00000398788	NM_001171933.1	110	tCg/tTg	0	1		UPI0002B831D5	0	getma.org/pdb.php?prot=CAD23_HUMAN&from=2301&to=2393&var=S2350L	ENST00000224721	uncertain_significance	ENSG00000107736	13733	0.000134	15	1.04		HGNC	p.S2353L	rs371522435	CDH23		SNV	T:0.0005		1	0.00115		1	ENST00000224721	protein_coding	getma.org/?cm=var&var=hg19,10,73558330,C,T&fts=all	T:0.0008	PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		S/L	T:0	T	low	7069/10085	2.10E-05	getma.org/?cm=msa&ty=f&p=CAD23_HUMAN&rb=2301&re=2393&var=S2350L	deleterious(0.01)		T:0	T:0		CDH23,missense_variant,p.Ser2355Leu,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Ser110Leu,ENST00000398788,NM_001171933.1,NM_001171934.1;CDH23,non_coding_transcript_exon_variant,,ENST00000475158,;		T:0.0002					MODERATE	7064/10080	S2350L			T:0	Transcript		possibly_damaging(0.776)	common_variant	ENSP00000224721	8.28E-05			T:0	1	
TPO	0	LGGM	GRCh37	2	1497798	1497798	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	12	3	.	.	ENST00000345913.4:c.1993C>T	p.Arg665Trp	p.R665W	ENST00000345913	NM_000547.5	665	Cgg/Tgg	0	1		UPI000013D480	0	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=R665W	ENST00000329066		ENSG00000115705	12015		15	3.96		HGNC	p.R665W	rs776742629	TPO		SNV			1				ENST00000345913	protein_coding	getma.org/?cm=var&var=hg19,2,1497798,C,T&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		R/W		T	high	2076/3138	1.50E-05	getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=R665W	deleterious(0)	Q53QT2_HUMAN,C9J511_HUMAN				TPO,missense_variant,p.Arg594Trp,ENST00000422464,;TPO,missense_variant,p.Arg665Trp,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Arg665Trp,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Arg665Trp,ENST00000337415,;TPO,missense_variant,p.Arg665Trp,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Arg608Trp,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Arg492Trp,ENST00000349624,;TPO,missense_variant,p.Arg492Trp,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Arg140Trp,ENST00000446278,;TPO,missense_variant,p.Arg139Trp,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;							MODERATE	1993/2802	R665W	PERT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329869	8.24E-06	CCDS1643.1			1	
B3GNT5	0	LGGM	GRCh37	3	182988551	182988551	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	42	3	.	.	ENST00000326505.3:c.965C>A	p.Ser322Tyr	p.S322Y	ENST00000326505	NM_032047.4	322	tCt/tAt	0	1	1	UPI000003D75E	0	NA	ENST00000326505		ENSG00000176597	15684		45	2.015		HGNC	p.S322Y		B3GNT5		SNV							ENST00000460419	protein_coding	getma.org/?cm=var&var=hg19,3,182988551,C,A&fts=all		hmmpanther:PTHR11214:SF21,hmmpanther:PTHR11214		S/Y		A	medium	1495/4123		getma.org/?cm=msa&ty=f&p=B3GN5_HUMAN&rb=302&re=378&var=S322Y	deleterious(0.03)	C9J5K2_HUMAN,C9J368_HUMAN,C9IYY0_HUMAN			YES	B3GNT5,missense_variant,p.Ser322Tyr,ENST00000326505,NM_032047.4;B3GNT5,missense_variant,p.Ser322Tyr,ENST00000460419,;B3GNT5,missense_variant,p.Ser322Tyr,ENST00000465010,;MCF2L2,intron_variant,,ENST00000328913,NM_015078.2;MCF2L2,intron_variant,,ENST00000473233,;MCF2L2,intron_variant,,ENST00000447025,;MCF2L2,downstream_gene_variant,,ENST00000414362,;B3GNT5,downstream_gene_variant,,ENST00000464923,;B3GNT5,downstream_gene_variant,,ENST00000481531,;B3GNT5,downstream_gene_variant,,ENST00000464191,;B3GNT5,intron_variant,,ENST00000480551,;B3GNT5,downstream_gene_variant,,ENST00000496270,;B3GNT5,downstream_gene_variant,,ENST00000488301,;B3GNT5,downstream_gene_variant,,ENST00000493370,;B3GNT5,downstream_gene_variant,,ENST00000477699,;MCF2L2,intron_variant,,ENST00000488149,;							MODERATE	965/1137	S322Y	B3GN5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000316173		CCDS3244.1			1	
SNX14	0	LGGM	GRCh37	6	86235930	86235930	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	23	3	.	.	ENST00000314673.3:c.2021G>T	p.Ser674Ile	p.S674I	ENST00000314673	NM_153816.3	674	aGt/aTt	0	1	1	UPI000013F8C8	0	getma.org/pdb.php?prot=SNX14_HUMAN&from=574&to=686&var=S674I	ENST00000314673		ENSG00000135317	14977		26	1.975		HGNC	p.S621I		SNX14		SNV			1				ENST00000346348	protein_coding	getma.org/?cm=var&var=hg19,6,86235930,C,A&fts=all		Superfamily_domains:SSF64268,SMART_domains:SM00312,Pfam_domain:PF00787,Gene3D:3.30.1520.10,hmmpanther:PTHR22775:SF3,hmmpanther:PTHR22775,PROSITE_profiles:PS50195		S/I		A	medium	2198/3486		getma.org/?cm=msa&ty=f&p=SNX14_HUMAN&rb=574&re=686&var=S674I	deleterious(0.03)	E2QRM8_HUMAN			YES	SNX14,missense_variant,p.Ser674Ile,ENST00000314673,NM_153816.3;SNX14,missense_variant,p.Ser621Ile,ENST00000346348,NM_020468.3;SNX14,missense_variant,p.Ser592Ile,ENST00000515216,;SNX14,missense_variant,p.Ser622Ile,ENST00000505648,;SNX14,missense_variant,p.Ser665Ile,ENST00000369627,;SNX14,missense_variant,p.Ser39Ile,ENST00000418862,;SNX14,intron_variant,,ENST00000513865,;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,,ENST00000503608,;SNX14,downstream_gene_variant,,ENST00000506182,;							MODERATE	2021/2841	S674I	SNX14_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000313121		CCDS5004.1			1	
CCDC87	0	LGGM	GRCh37	11	66359749	66359749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	27	3	.	.	ENST00000333861.3:c.738G>T	p.Met246Ile	p.M246I	ENST00000333861	NM_018219.2	246	atG/atT	0	1	1	UPI000013EFC2	0	NA	ENST00000333861		ENSG00000182791	25579		30	0.69		HGNC	p.M246I		CCDC87		SNV							ENST00000333861	protein_coding	getma.org/?cm=var&var=hg19,11,66359749,C,A&fts=all		hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1		M/I		A	neutral	806/2915		getma.org/?cm=msa&ty=f&p=CCD87_HUMAN&rb=45&re=643&var=M246I	tolerated(0.48)				YES	CCDC87,missense_variant,p.Met246Ile,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,;							MODERATE	738/2550	M246I	CCD87_HUMAN			Transcript		benign(0.002)	.	ENSP00000328487		CCDS8145.1			1	
SYNE1	0	LGGM	GRCh37	6	152697680	152697680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	46	3	.	.	ENST00000367255.5:c.9160G>T	p.Ala3054Ser	p.A3054S	ENST00000367255	NM_182961.3	3054	Gca/Tca	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		49	1.7		HGNC	p.A3061S		SYNE1		SNV			1				ENST00000423061	protein_coding	getma.org/?cm=var&var=hg19,6,152697680,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966		A/S		A	low	9762/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=2884&re=3083&var=A3054S					YES	SYNE1,missense_variant,p.Ala3054Ser,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Ala3054Ser,ENST00000265368,;SYNE1,missense_variant,p.Ala3061Ser,ENST00000448038,;SYNE1,missense_variant,p.Ala3061Ser,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Ala3093Ser,ENST00000341594,;SYNE1,missense_variant,p.Ala171Ser,ENST00000454018,;SYNE1,upstream_gene_variant,,ENST00000469439,;SYNE1-AS1,upstream_gene_variant,,ENST00000412161,;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;							MODERATE	9160/26394	A3054S	SYNE1_HUMAN			Transcript		possibly_damaging(0.505)	.	ENSP00000356224		CCDS5236.2			1	
ZNHIT6	0	LGGM	GRCh37	1	86167869	86167869	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	27	3	.	.	ENST00000370574.3:c.990G>T	p.Arg330Ser	p.R330S	ENST00000370574		330	agG/agT	0	1	1	UPI000006D8D2	0	NA	ENST00000370574		ENSG00000117174	26089		30	2.015		HGNC	p.R330S		ZNHIT6		SNV							ENST00000370574	protein_coding	getma.org/?cm=var&var=hg19,1,86167869,C,A&fts=all		hmmpanther:PTHR13483,hmmpanther:PTHR13483:SF3		R/S		A	medium	1124/2797		getma.org/?cm=msa&ty=f&p=BCD1_HUMAN&rb=247&re=446&var=R330S	tolerated(0.05)				YES	ZNHIT6,missense_variant,p.Arg291Ser,ENST00000431532,NM_001170670.1,NM_017953.3;ZNHIT6,missense_variant,p.Arg330Ser,ENST00000370574,;							MODERATE	990/1413	R330S	BCD1_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000359606		CCDS707.1			1	
MGAT1	0	LGGM	GRCh37	5	180219548	180219548	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	8	3	.	.	ENST00000446023.2:c.424G>C	p.Asp142His	p.D142H	ENST00000446023	NM_001114618.1	142	Gac/Cac	0	1		UPI000013CDF1	0	getma.org/pdb.php?prot=MGAT1_HUMAN&from=12&to=444&var=D142H	ENST00000307826		ENSG00000131446	7044		11	2.85		HGNC	p.D142H		MGAT1		SNV							ENST00000393340	protein_coding	getma.org/?cm=var&var=hg19,5,180219548,C,G&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF03071,hmmpanther:PTHR10468,hmmpanther:PTHR10468:SF0,Superfamily_domains:SSF53448		D/H		G	medium	756/2761		getma.org/?cm=msa&ty=f&p=MGAT1_HUMAN&rb=12&re=444&var=D142H		Q59G70_HUMAN,D6RIS2_HUMAN,D6RHZ8_HUMAN,D6RF69_HUMAN,D6RD15_HUMAN,D6RBS3_HUMAN,D6RB69_HUMAN,D6RAK2_HUMAN,D6RA48_HUMAN,D6R9U2_HUMAN				MGAT1,missense_variant,p.Asp142His,ENST00000446023,NM_001114618.1,NM_001114617.1;MGAT1,missense_variant,p.Asp142His,ENST00000333055,;MGAT1,missense_variant,p.Asp142His,ENST00000393340,;MGAT1,missense_variant,p.Asp142His,ENST00000307826,NM_001114619.1,NM_002406.3;MGAT1,missense_variant,p.Asp142His,ENST00000427865,NM_001114620.1;MGAT1,missense_variant,p.Asp142His,ENST00000506889,;MGAT1,missense_variant,p.Asp142His,ENST00000504671,;MGAT1,downstream_gene_variant,,ENST00000502678,;MGAT1,downstream_gene_variant,,ENST00000514283,;MGAT1,downstream_gene_variant,,ENST00000514438,;MGAT1,downstream_gene_variant,,ENST00000507384,;MGAT1,downstream_gene_variant,,ENST00000506269,;MGAT1,downstream_gene_variant,,ENST00000513431,;MGAT1,downstream_gene_variant,,ENST00000512695,;CTC-205M6.5,upstream_gene_variant,,ENST00000562870,;MGAT1,downstream_gene_variant,,ENST00000514760,;MGAT1,downstream_gene_variant,,ENST00000504385,;MGAT1,downstream_gene_variant,,ENST00000505682,;							MODERATE	424/1338	D142H	MGAT1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000311888		CCDS4458.1			1	
L3MBTL2	0	LGGM	GRCh37	22	41616828	41616828	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	60	4	.	.	ENST00000216237.5:c.809T>G	p.Ile270Ser	p.I270S	ENST00000216237	NM_031488.4	270	aTt/aGt	0	1	1	UPI000012E77E	0	getma.org/pdb.php?prot=LMBL2_HUMAN&from=214&to=290&var=I270S	ENST00000216237		ENSG00000100395	18594		64	2.625		HGNC	p.I270S		L3MBTL2		SNV							ENST00000216237	protein_coding	getma.org/?cm=var&var=hg19,22,41616828,T,G&fts=all		PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF64,Gene3D:2.30.30.160,Pfam_domain:PF02820,SMART_domains:SM00561,Superfamily_domains:SSF63748		I/S		G	medium	967/3296		getma.org/?cm=msa&ty=f&p=LMBL2_HUMAN&rb=214&re=290&var=I270S	deleterious(0)				YES	L3MBTL2,missense_variant,p.Ile270Ser,ENST00000216237,NM_031488.4;L3MBTL2,missense_variant,p.Ile218Ser,ENST00000449635,;RP4-756G23.5,upstream_gene_variant,,ENST00000441316,;RP4-756G23.5,upstream_gene_variant,,ENST00000451176,;L3MBTL2,downstream_gene_variant,,ENST00000489136,;L3MBTL2,missense_variant,p.Ile270Ser,ENST00000452106,;L3MBTL2,missense_variant,p.Leu223Val,ENST00000450939,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000481902,;							MODERATE	809/2118	I270S	LMBL2_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000216237		CCDS14011.1			1	
TP53	0	LGGM	GRCh37	17	7577118	7577118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	18	4	.	.	ENST00000269305.4:c.820G>T	p.Val274Phe	p.V274F	ENST00000269305	NM_001126112.2	274	Gtt/Ttt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=V274F	ENST00000269305		ENSG00000141510	11998		22	2.885		HGNC	p.V274F	TP53_g.13800G>T,COSM10769,COSM165075,COSM3388171,COSM1679490	TP53		SNV			1			0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577118,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		V/F		A	medium	1010/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=V274F	deleterious(0.03)	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			YES	TP53,missense_variant,p.Val274Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Val274Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Val274Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Val274Phe,ENST00000445888,;TP53,missense_variant,p.Val274Phe,ENST00000359597,;TP53,missense_variant,p.Val142Phe,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,;					0,1,1,1,1		MODERATE	820/1182	V274F	P53_HUMAN			Transcript		benign(0.275)	.	ENSP00000269305		CCDS11118.1			1	
HYDIN	0	LGGM	GRCh37	16	71015448	71015448	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	52	4	.	.	ENST00000393567.2:c.4356G>T	p.Glu1452Asp	p.E1452D	ENST00000393567	NM_001270974.1	1452	gaG/gaT	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		56	2.34		HGNC	p.E1451D		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,71015448,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		E/D		A	medium	4507/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=1&re=1902&var=E1452D		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Glu1452Asp,ENST00000393567,NM_001270974.1;HYDIN,downstream_gene_variant,,ENST00000393552,;							MODERATE	4356/15366	E1452D	HYDIN_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000377197		CCDS59269.1			1	
KIAA1024L	0	LGGM	GRCh37	5	129100706	129100706	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	45	4	.	.	ENST00000564719.1:c.523G>A	p.Val175Ile	p.V175I	ENST00000564719	NM_001257308.1	175	Gtt/Att	0	1	1	UPI00001979AD	0		ENST00000564719		ENSG00000186367	33914		49			HGNC	p.V175I		KIAA1024L		SNV							ENST00000564719	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR31530,Pfam_domain:PF06789		V/I		A		635/2354			tolerated(0.25)				YES	KIAA1024L,missense_variant,p.Val175Ile,ENST00000564719,NM_001257308.1;KIAA1024L,missense_variant,p.Val92Ile,ENST00000334562,;CTC-575N7.1,intron_variant,,ENST00000503616,;CTC-575N7.1,intron_variant,,ENST00000515569,;							MODERATE	523/573		K102L_HUMAN			Transcript		unknown(0)	.	ENSP00000454268		CCDS58966.1			1	
ADAM28	0	LGGM	GRCh37	8	24157546	24157546	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	70	4	.	.	ENST00000265769.4:c.106C>T	p.Leu36Phe	p.L36F	ENST00000265769	NM_014265.4	36	Ctt/Ttt	0	1	1	UPI000049E0B9	0	NA	ENST00000265769		ENSG00000042980	206		74	2.79		HGNC	p.L36F		ADAM28		SNV							ENST00000437154	protein_coding	getma.org/?cm=var&var=hg19,8,24157546,C,T&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01562		L/F		T	medium	216/7052		getma.org/?cm=msa&ty=f&p=ADA28_HUMAN&rb=28&re=156&var=L36F	deleterious(0.02)	E5RGY1_HUMAN			YES	ADAM28,missense_variant,p.Leu36Phe,ENST00000265769,NM_014265.4;ADAM28,missense_variant,p.Leu36Phe,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,,ENST00000523700,;RP11-624C23.1,downstream_gene_variant,,ENST00000519689,;RP11-624C23.1,downstream_gene_variant,,ENST00000523578,;ADAM28,missense_variant,p.Leu36Phe,ENST00000520448,;ADAM28,missense_variant,p.Leu36Phe,ENST00000523379,;ADAM28,non_coding_transcript_exon_variant,,ENST00000523440,;							MODERATE	106/2328	L36F	ADA28_HUMAN			Transcript		benign(0.144)	.	ENSP00000265769		CCDS34865.1			1	
SLITRK5	0	LGGM	GRCh37	13	88329592	88329592	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	48	4	.	.	ENST00000325089.6:c.1949C>A	p.Ala650Glu	p.A650E	ENST00000325089	NM_015567.1	650	gCg/gAg	0	1	1	UPI000015F6F7	0	NA	ENST00000325089		ENSG00000165300	20295		52	0.69		HGNC	p.A409E		SLITRK5		SNV							ENST00000400028	protein_coding	getma.org/?cm=var&var=hg19,13,88329592,C,A&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,Low_complexity_(Seg):seg		A/E		A	neutral	2168/4447		getma.org/?cm=msa&ty=f&p=SLIK5_HUMAN&rb=565&re=764&var=A650E	tolerated(1)				YES	SLITRK5,missense_variant,p.Ala650Glu,ENST00000325089,NM_015567.1;SLITRK5,missense_variant,p.Ala409Glu,ENST00000400028,;							MODERATE	1949/2877	A650E	SLIK5_HUMAN			Transcript		benign(0.168)	.	ENSP00000366283		CCDS9465.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147092702	147092702	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	79	4	.	.	ENST00000361727.3:c.1500T>G	p.Gly500=	p.G500=	ENST00000361727	NM_014141.5	500	ggT/ggG	0	1	1	UPI00001285FA	0		ENST00000361727		ENSG00000174469	13830		83			HGNC	p.G500G		CNTNAP2		SNV			1				ENST00000361727	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899		G		G		2016/9894				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			YES	CNTNAP2,splice_region_variant,p.=,ENST00000361727,NM_014141.5;							LOW	1500/3996		CNTP2_HUMAN			Transcript			.	ENSP00000354778		CCDS5889.1			1	
PDGFC	0	LGGM	GRCh37	4	157684313	157684313	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	27	4	.	.	ENST00000502773.1:c.967T>G	p.Ser323Ala	p.S323A	ENST00000502773	NM_016205.2	323	Tca/Gca	0	1	1	UPI0000034814	0	getma.org/pdb.php?prot=PDGFC_HUMAN&from=250&to=337&var=S323A	ENST00000502773		ENSG00000145431	8801		31	0.97		HGNC	p.S168A		PDGFC		SNV							ENST00000542208	protein_coding	getma.org/?cm=var&var=hg19,4,157684313,A,C&fts=all		PROSITE_profiles:PS50278,Gene3D:2.10.90.10,Pfam_domain:PF00341,SMART_domains:SM00141,Superfamily_domains:SSF57501		S/A		C	low	1458/4165		getma.org/?cm=msa&ty=f&p=PDGFC_HUMAN&rb=250&re=337&var=S323A	tolerated(0.68)				YES	PDGFC,missense_variant,p.Ser323Ala,ENST00000502773,NM_016205.2;PDGFC,missense_variant,p.Ser160Ala,ENST00000541126,;PDGFC,missense_variant,p.Ser168Ala,ENST00000542208,;PDGFC,missense_variant,p.Ser260Ala,ENST00000422544,;PDGFC,non_coding_transcript_exon_variant,,ENST00000504672,;PDGFC,downstream_gene_variant,,ENST00000510982,;PDGFC,3_prime_UTR_variant,,ENST00000274071,;PDGFC,3_prime_UTR_variant,,ENST00000506880,;							MODERATE	967/1038	S323A	PDGFC_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000422464		CCDS3795.1			1	
CLCNKA	0	LGGM	GRCh37	1	16356470	16356470	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	22	5	.	.	ENST00000331433.4:c.1308C>A	p.Ile436=	p.I436=	ENST00000331433		436	atC/atA	0	1	1	UPI0000127993	0		ENST00000331433		ENSG00000186510	2026		27			HGNC	p.I393I		CLCNKA		SNV			1				ENST00000439316	protein_coding			Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF78,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix		I		A		1327/2475							YES	CLCNKA,synonymous_variant,p.=,ENST00000375692,;CLCNKA,synonymous_variant,p.=,ENST00000420078,NM_004070.3,NM_001042704.1,NM_001257139.1;CLCNKA,synonymous_variant,p.=,ENST00000331433,;CLCNKA,synonymous_variant,p.=,ENST00000439316,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000464764,;CLCNKA,non_coding_transcript_exon_variant,,ENST00000491433,;CLCNKA,downstream_gene_variant,,ENST00000495784,;							LOW	1308/2064		CLCKA_HUMAN			Transcript			.	ENSP00000332771		CCDS167.1			1	
CCDC77	0	LGGM	GRCh37	12	542403	542403	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	70	5	.	.	ENST00000239830.4:c.736C>G	p.Leu246Val	p.L246V	ENST00000239830	NM_032358.3	246	Ctc/Gtc	0	1	1	UPI0000070D97	0	NA	ENST00000239830		ENSG00000120647	28203		75	2.65		HGNC	p.L214V		CCDC77		SNV							ENST00000543504	protein_coding	getma.org/?cm=var&var=hg19,12,542403,C,G&fts=all		hmmpanther:PTHR22091,hmmpanther:PTHR22091:SF1		L/V		G	medium	915/2371		getma.org/?cm=msa&ty=f&p=CCD77_HUMAN&rb=33&re=486&var=L246V	deleterious(0.01)	F5H5Q8_HUMAN,F5H0W5_HUMAN			YES	CCDC77,missense_variant,p.Leu246Val,ENST00000239830,NM_032358.3;CCDC77,missense_variant,p.Leu214Val,ENST00000422000,NM_001130147.1;CCDC77,missense_variant,p.Leu214Val,ENST00000412006,NM_001130146.1;CCDC77,missense_variant,p.Leu214Val,ENST00000540180,NM_001130148.1;CCDC77,missense_variant,p.Leu214Val,ENST00000543504,;CCDC77,non_coding_transcript_exon_variant,,ENST00000540344,;CCDC77,non_coding_transcript_exon_variant,,ENST00000540118,;							MODERATE	736/1467	L246V	CCD77_HUMAN			Transcript		benign(0.199)	.	ENSP00000239830		CCDS8503.1			1	
NCOR2	0	LGGM	GRCh37	12	124870420	124870420	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	18	5	.	.	ENST00000405201.1:c.1890C>T	p.His630=	p.H630=	ENST00000405201		630	caC/caT	0	1	1	UPI000013D737	0		ENST00000405201		ENSG00000196498	7673		23			HGNC	p.H629H	rs748585756	NCOR2		SNV							ENST00000429285	protein_coding			Gene3D:1.10.10.60,Pfam_domain:PF00249,PROSITE_profiles:PS51293,hmmpanther:PTHR13992,hmmpanther:PTHR13992:SF21,SMART_domains:SM00717,Superfamily_domains:SSF46689		H		A		1891/8533	6.05E-05			C9JFD3_HUMAN,C9J330_HUMAN			YES	NCOR2,synonymous_variant,p.=,ENST00000356219,NM_006312.5;NCOR2,synonymous_variant,p.=,ENST00000404121,NM_001206654.1;NCOR2,synonymous_variant,p.=,ENST00000405201,;NCOR2,synonymous_variant,p.=,ENST00000397355,;NCOR2,synonymous_variant,p.=,ENST00000404621,NM_001077261.3;NCOR2,synonymous_variant,p.=,ENST00000429285,;NCOR2,synonymous_variant,p.=,ENST00000458234,;NCOR2,synonymous_variant,p.=,ENST00000448614,;RP11-408I18.9,downstream_gene_variant,,ENST00000545095,;							LOW	1890/7545			0.000306		Transcript			.	ENSP00000384018	5.79E-05	CCDS41858.2	0.00113		1	
ZAN	0	LGGM	GRCh37	7	100388630	100388630	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	16	6	.	.	ENST00000546292.1:c.7421G>A	p.Arg2474His	p.R2474H	ENST00000546292	NM_173059.1	2474	cGc/cAc	0	1	1	UPI00004575C6	0		ENST00000546292		ENSG00000146839	12857		22			HGNC	p.R2474H		ZAN		SNV							ENST00000542585	protein_coding			SMART_domains:SM00216,Pfam_domain:PF00094,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339,PROSITE_profiles:PS51233		R/H		A		7569/8375				F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Arg2474His,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Arg2474His,ENST00000538115,;ZAN,missense_variant,p.Arg2474His,ENST00000546292,NM_173059.1;ZAN,intron_variant,,ENST00000546213,;ZAN,missense_variant,p.Ala2475Thr,ENST00000427578,;ZAN,missense_variant,p.Ala2475Thr,ENST00000449052,;ZAN,missense_variant,p.Ala2475Thr,ENST00000349350,;ZAN,missense_variant,p.Ala2475Thr,ENST00000443370,;ZAN,missense_variant,p.Ala2475Thr,ENST00000421100,;ZAN,missense_variant,p.Ala2475Thr,ENST00000348028,;							MODERATE	7421/8163					Transcript		unknown(0)	.	ENSP00000445943					1	
PCDHA8	0	LGGM	GRCh37	5	140221125	140221125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	25	7	.	.	ENST00000531613.1:c.219C>A	p.Asp73Glu	p.D73E	ENST00000531613	NM_018911.2	73	gaC/gaA	0	1	1	UPI00001273D0	0	getma.org/pdb.php?prot=PCDA8_HUMAN&from=29&to=112&var=D73E	ENST00000531613		ENSG00000204962	8674		32	0.78		HGNC	p.D73E		PCDHA8		SNV							ENST00000531613	protein_coding	getma.org/?cm=var&var=hg19,5,140221125,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF83,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/E		A	neutral	219/5260		getma.org/?cm=msa&ty=f&p=PCDA8_HUMAN&rb=29&re=112&var=D73E	tolerated_low_confidence(0.07)				YES	PCDHA8,missense_variant,p.Asp73Glu,ENST00000531613,NM_018911.2;PCDHA8,missense_variant,p.Asp73Glu,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,;PCDHA7,downstream_gene_variant,,ENST00000378125,NM_031852.1;							MODERATE	219/2853	D73E	PCDA8_HUMAN			Transcript		benign(0.025)	.	ENSP00000434655		CCDS54919.1			1	
SARS2	0	LGGM	GRCh37	19	39421240	39421240	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	37	7	.	.	ENST00000600042.1:c.137A>C	p.Glu46Ala	p.E46A	ENST00000600042	NM_001145901.1	46	gAg/gCg	0	1		UPI000000DA00	0	getma.org/pdb.php?prot=SYSM_HUMAN&from=1&to=100&var=E46A	ENST00000221431		ENSG00000104835	17697		44	2.19		HGNC	p.E46A		SARS2		SNV			1				ENST00000430193	protein_coding	getma.org/?cm=var&var=hg19,19,39421240,T,G&fts=all		hmmpanther:PTHR11778:SF5,hmmpanther:PTHR11778		E/A		G	medium	297/2057		getma.org/?cm=msa&ty=f&p=SYSM_HUMAN&rb=1&re=100&var=E46A	deleterious(0.01)	M0R259_HUMAN				SARS2,missense_variant,p.Glu46Ala,ENST00000221431,NM_017827.3;SARS2,missense_variant,p.Glu46Ala,ENST00000430193,;SARS2,missense_variant,p.Glu46Ala,ENST00000600042,NM_001145901.1;MRPS12,5_prime_UTR_variant,,ENST00000308018,NM_033362.3;CTC-360G5.8,intron_variant,,ENST00000599996,;SARS2,intron_variant,,ENST00000448145,;SARS2,upstream_gene_variant,,ENST00000594171,;MRPS12,upstream_gene_variant,,ENST00000407800,NM_021107.1;MRPS12,upstream_gene_variant,,ENST00000402029,NM_033363.1;CTC-360G5.9,downstream_gene_variant,,ENST00000599320,;SARS2,missense_variant,p.Glu46Ala,ENST00000455102,;SARS2,missense_variant,p.Glu46Ala,ENST00000593754,;SARS2,missense_variant,p.Glu46Ala,ENST00000598343,;SARS2,non_coding_transcript_exon_variant,,ENST00000598598,;MRPS12,upstream_gene_variant,,ENST00000598734,;							MODERATE	137/1557	E46A	SYSM_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000221431		CCDS33017.1			1	
ATOSB	0	LGGM	GRCh37	9	35105799	35105799	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	11	7	.	.	ENST00000378561.1:c.1343T>A	p.Phe448Tyr	p.F448Y	ENST00000378561		448	tTc/tAc	0	1		UPI0000169E3E	0	NA	ENST00000322813		ENSG00000005238	25666		18	1.355		HGNC	p.F448Y		FAM214B		SNV							ENST00000378561	protein_coding	getma.org/?cm=var&var=hg19,9,35105799,A,T&fts=all		hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF12		F/Y		T	low	1654/3028		getma.org/?cm=msa&ty=f&p=F214B_HUMAN&rb=401&re=538&var=F448Y	deleterious(0.03)					FAM214B,missense_variant,p.Phe448Tyr,ENST00000378561,;FAM214B,missense_variant,p.Phe448Tyr,ENST00000603301,;FAM214B,missense_variant,p.Phe448Tyr,ENST00000378557,;FAM214B,missense_variant,p.Phe448Tyr,ENST00000322813,NM_025182.2;FAM214B,missense_variant,p.Phe448Tyr,ENST00000605244,;FAM214B,missense_variant,p.Phe448Tyr,ENST00000488109,;FAM214B,missense_variant,p.Phe143Tyr,ENST00000378566,;FAM214B,intron_variant,,ENST00000378554,;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,;STOML2,upstream_gene_variant,,ENST00000487490,;STOML2,upstream_gene_variant,,ENST00000488050,;							MODERATE	1343/1617	F448Y	F214B_HUMAN			Transcript		benign(0.259)	.	ENSP00000319897		CCDS6578.1			1	
LGR5	0	LGGM	GRCh37	12	71978050	71978050	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	55	7	.	.	ENST00000266674.5:c.2260G>A	p.Gly754Arg	p.G754R	ENST00000266674	NM_001277226.1	754	Gga/Aga	0	1	1	UPI000004B65C	0	NA	ENST00000266674		ENSG00000139292	4504		62	0.845		HGNC	p.G754R	COSM3872449	LGR5		SNV						1	ENST00000266674	protein_coding	getma.org/?cm=var&var=hg19,12,71978050,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,Superfamily_domains:SSF81321		G/R		A	low	2571/4611		getma.org/?cm=msa&ty=f&p=LGR5_HUMAN&rb=574&re=820&var=G754R	deleterious(0.05)				YES	LGR5,missense_variant,p.Gly754Arg,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,missense_variant,p.Gly730Arg,ENST00000540815,;LGR5,missense_variant,p.Gly682Arg,ENST00000536515,;RP11-186F10.2,upstream_gene_variant,,ENST00000546601,;LGR5,intron_variant,,ENST00000550851,;					1		MODERATE	2260/2724	G754R	LGR5_HUMAN			Transcript		benign(0.05)	.	ENSP00000266674		CCDS9000.1			1	
EPHA7	0	LGGM	GRCh37	6	94068126	94068126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	30	8	.	.	ENST00000369303.4:c.836G>A	p.Cys279Tyr	p.C279Y	ENST00000369303	NM_004440.3	279	tGt/tAt	0	1	1	UPI0000044771	0	getma.org/pdb.php?prot=EPHA7_HUMAN&from=268&to=312&var=C279Y	ENST00000369303		ENSG00000135333	3390		38	2.78		HGNC	p.C279Y		EPHA7		SNV							ENST00000369303	protein_coding	getma.org/?cm=var&var=hg19,6,94068126,C,T&fts=all		hmmpanther:PTHR24416:SF266,hmmpanther:PTHR24416,Pfam_domain:PF07699,Gene3D:2gy5A03,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF57184		C/Y		T	medium	1021/6588		getma.org/?cm=msa&ty=f&p=EPHA7_HUMAN&rb=268&re=312&var=C279Y	deleterious(0)				YES	EPHA7,missense_variant,p.Cys279Tyr,ENST00000369303,NM_004440.3,NM_001288629.1;							MODERATE	836/2997	C279Y	EPHA7_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000358309		CCDS5031.1			1	
PSMB11	0	LGGM	GRCh37	14	23512003	23512003	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	18	8	.	.	ENST00000408907.2:c.569G>A	p.Arg190His	p.R190H	ENST00000408907	NM_001099780.1	190	cGt/cAt	0	1	1	UPI00001D7B85	0	getma.org/pdb.php?prot=PSB11_HUMAN&from=46&to=228&var=R190H	ENST00000408907		ENSG00000222028	31963		26	0.805		HGNC	p.R190H	rs375292735	PSMB11	6.07E-05	SNV	A:0						ENST00000408907	protein_coding	getma.org/?cm=var&var=hg19,14,23512003,G,A&fts=all		Gene3D:3.60.20.10,Pfam_domain:PF00227,Prints_domain:PR00141,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF48,Superfamily_domains:SSF56235		R/H	A:0.0002	A	low	628/1894	4.52E-05	getma.org/?cm=msa&ty=f&p=PSB11_HUMAN&rb=46&re=228&var=R190H	deleterious(0.03)				YES	PSMB11,missense_variant,p.Arg190His,ENST00000408907,NM_001099780.1;CDH24,downstream_gene_variant,,ENST00000397359,NM_022478.3;CDH24,downstream_gene_variant,,ENST00000487137,NM_144985.3;CDH24,downstream_gene_variant,,ENST00000267383,;CDH24,downstream_gene_variant,,ENST00000554034,;CDH24,downstream_gene_variant,,ENST00000485922,;							MODERATE	569/903	R190H	PSB11_HUMAN			Transcript		benign(0.037)	.	ENSP00000386212	3.30E-05	CCDS41923.1			1	
RBM26	0	LGGM	GRCh37	13	79908552	79908552	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	39	8	.	.	ENST00000267229.7:c.2666T>A	p.Ile889Asn	p.I889N	ENST00000267229	NM_022118.3	889	aTt/aAt	0	1		UPI0000D61A89	0	NA	ENST00000438737		ENSG00000139746	20327		47	2.095		HGNC	p.I892N		RBM26		SNV							ENST00000438724	protein_coding	getma.org/?cm=var&var=hg19,13,79908552,A,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF13893,PROSITE_profiles:PS50102,hmmpanther:PTHR14398,hmmpanther:PTHR14398:SF2,SMART_domains:SM00360,Superfamily_domains:SSF54928		I/N		T	medium	3188/4132		getma.org/?cm=msa&ty=f&p=RBM26_HUMAN&rb=906&re=958&var=I916N	deleterious(0)					RBM26,missense_variant,p.Ile916Asn,ENST00000438737,NM_001286631.1;RBM26,missense_variant,p.Ile102Asn,ENST00000449987,;RBM26,missense_variant,p.Ile889Asn,ENST00000267229,NM_022118.3;RBM26,missense_variant,p.Ile892Asn,ENST00000438724,NM_001286632.1;							MODERATE	2747/3024	I916N	RBM26_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000387531					1	
GULP1	0	LGGM	GRCh37	2	189405913	189405913	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	30	9	.	.	ENST00000409580.1:c.267T>G	p.Val89=	p.V89=	ENST00000409580		89	gtT/gtG	0	1		UPI0000031CE3	0		ENST00000359135		ENSG00000144366	18649		39			HGNC	p.V89V		GULP1		SNV							ENST00000409637	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF00640,PROSITE_profiles:PS01179,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF31,SMART_domains:SM00462,Superfamily_domains:SSF50729		V		G		779/3342				B8ZZL1_HUMAN				GULP1,synonymous_variant,p.=,ENST00000409580,;GULP1,synonymous_variant,p.=,ENST00000359135,;GULP1,synonymous_variant,p.=,ENST00000409843,NM_016315.3,NM_001252668.1;GULP1,synonymous_variant,p.=,ENST00000409609,;GULP1,synonymous_variant,p.=,ENST00000410051,;GULP1,synonymous_variant,p.=,ENST00000409830,;GULP1,synonymous_variant,p.=,ENST00000409637,;GULP1,intron_variant,,ENST00000409805,NM_001252669.1;GULP1,non_coding_transcript_exon_variant,,ENST00000479019,;GULP1,non_coding_transcript_exon_variant,,ENST00000495745,;GULP1,intron_variant,,ENST00000467422,;GULP1,non_coding_transcript_exon_variant,,ENST00000476422,;							LOW	267/915		GULP1_HUMAN			Transcript			.	ENSP00000352047		CCDS2295.1			1	
BDKRB1	0	LGGM	GRCh37	14	96730422	96730422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	30	9	.	.	ENST00000216629.6:c.403C>A	p.Arg135Ser	p.R135S	ENST00000216629	NM_000710.3	135	Cgc/Agc	0	1	1	UPI0000000348	0	getma.org/pdb.php?prot=BKRB1_HUMAN&from=54&to=312&var=R135S	ENST00000216629		ENSG00000100739	1029		39	3.575		HGNC	p.R135S		BDKRB1		SNV							ENST00000216629	protein_coding	getma.org/?cm=var&var=hg19,14,96730422,C,A&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF4,PROSITE_profiles:PS50262		R/S		A	high	1009/1687		getma.org/?cm=msa&ty=f&p=BKRB1_HUMAN&rb=54&re=312&var=R135S	deleterious(0)				YES	BDKRB1,missense_variant,p.Arg135Ser,ENST00000216629,NM_000710.3;BDKRB1,missense_variant,p.Arg135Ser,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,;							MODERATE	403/1062	R135S	BKRB1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000216629		CCDS9943.1			1	
ARHGAP28	0	LGGM	GRCh37	18	6882241	6882241	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	33	9	.	.	ENST00000419673.2:c.919C>T	p.Leu307=	p.L307=	ENST00000419673	NM_001010000.2	307	Cta/Tta	0	1		UPI0001E5E846	0		ENST00000383472		ENSG00000088756	25509		42			HGNC	p.L307L		ARHGAP28		SNV							ENST00000419673	protein_coding			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5,SMART_domains:SM00324,Superfamily_domains:SSF48350		L		T		1500/2295				J3KTC0_HUMAN,E9PL26_HUMAN				ARHGAP28,synonymous_variant,p.=,ENST00000419673,NM_001010000.2;ARHGAP28,synonymous_variant,p.=,ENST00000314319,;ARHGAP28,synonymous_variant,p.=,ENST00000262227,;ARHGAP28,synonymous_variant,p.=,ENST00000400091,;ARHGAP28,synonymous_variant,p.=,ENST00000383472,;ARHGAP28,synonymous_variant,p.=,ENST00000531294,;ARHGAP28,synonymous_variant,p.=,ENST00000532996,;ARHGAP28,synonymous_variant,p.=,ENST00000418986,;ARHGAP28,synonymous_variant,p.=,ENST00000579689,;ARHGAP28,non_coding_transcript_exon_variant,,ENST00000579245,;							LOW	1396/2190		RHG28_HUMAN			Transcript			.	ENSP00000372964					1	
TMEM116	0	LGGM	GRCh37	12	112371815	112371815	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	44	9	.	.	ENST00000552374.2:c.608A>T	p.Gln203Leu	p.Q203L	ENST00000552374		203	cAg/cTg	0	1		UPI000006230E	0	NA	ENST00000550831		ENSG00000198270	25084		53	1.735		HGNC	p.Q17L		TMEM116		SNV							ENST00000549537	protein_coding	getma.org/?cm=var&var=hg19,12,112371815,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR23112,hmmpanther:PTHR23112:SF7,Superfamily_domains:SSF81321		Q/L		A	low	701/1446		getma.org/?cm=msa&ty=f&p=TM116_HUMAN&rb=1&re=126&var=Q111L	deleterious(0.01)	S4R388_HUMAN				TMEM116,missense_variant,p.Gln111Leu,ENST00000354825,;TMEM116,missense_variant,p.Gln111Leu,ENST00000437003,NM_001193531.1;TMEM116,missense_variant,p.Gln111Leu,ENST00000550831,NM_138341.2;TMEM116,missense_variant,p.Gln203Leu,ENST00000552374,;TMEM116,missense_variant,p.Gln168Leu,ENST00000355445,NM_001193453.1;TMEM116,missense_variant,p.Gln17Leu,ENST00000549537,;TMEM116,downstream_gene_variant,,ENST00000550800,;TMEM116,downstream_gene_variant,,ENST00000550037,;TMEM116,3_prime_UTR_variant,,ENST00000547878,;TMEM116,non_coding_transcript_exon_variant,,ENST00000548283,;TMEM116,non_coding_transcript_exon_variant,,ENST00000552801,;TMEM116,downstream_gene_variant,,ENST00000551297,;TMEM116,downstream_gene_variant,,ENST00000546537,;TMEM116,downstream_gene_variant,,ENST00000550020,;ADAM1B,downstream_gene_variant,,ENST00000454683,;							MODERATE	332/738	Q111L	TM116_HUMAN			Transcript		possibly_damaging(0.56)	.	ENSP00000450377		CCDS9157.1			1	
ASTE1	0	LGGM	GRCh37	3	130743319	130743319	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	23	10	.	.	ENST00000264992.3:c.832A>C	p.Lys278Gln	p.K278Q	ENST00000264992	NM_014065.2	278	Aaa/Caa	0	1	1	UPI00001B6B0B	0	NA	ENST00000264992		ENSG00000034533	25021		33	0.41		HGNC	p.K278Q		ASTE1		SNV							ENST00000264992	protein_coding	getma.org/?cm=var&var=hg19,3,130743319,T,G&fts=all		hmmpanther:PTHR15665		K/Q		G	neutral	1274/2664		getma.org/?cm=msa&ty=f&p=ASTE1_HUMAN&rb=115&re=392&var=K278Q	tolerated(0.09)	D6RJF1_HUMAN,D6R9W5_HUMAN			YES	ASTE1,missense_variant,p.Lys278Gln,ENST00000264992,NM_014065.2;ASTE1,missense_variant,p.Lys278Gln,ENST00000514044,;NEK11,upstream_gene_variant,,ENST00000383366,NM_024800.4;NEK11,upstream_gene_variant,,ENST00000429253,;NEK11,upstream_gene_variant,,ENST00000510688,NM_001146003.1;NEK11,upstream_gene_variant,,ENST00000412440,;NEK11,upstream_gene_variant,,ENST00000510769,;NEK11,upstream_gene_variant,,ENST00000511262,NM_145910.3;NEK11,upstream_gene_variant,,ENST00000507910,;NEK11,upstream_gene_variant,,ENST00000356918,;ASTE1,downstream_gene_variant,,ENST00000509060,;ASTE1,downstream_gene_variant,,ENST00000504725,;ASTE1,downstream_gene_variant,,ENST00000505545,;ASTE1,upstream_gene_variant,,ENST00000505290,;NEK11,upstream_gene_variant,,ENST00000507967,;NEK11,upstream_gene_variant,,ENST00000513550,;ASTE1,missense_variant,p.Lys278Gln,ENST00000507978,;ASTE1,intron_variant,,ENST00000504964,;NEK11,upstream_gene_variant,,ENST00000514915,;NEK11,upstream_gene_variant,,ENST00000510474,;NEK11,upstream_gene_variant,,ENST00000506695,;							MODERATE	832/2040	K278Q	ASTE1_HUMAN			Transcript		benign(0.125)	.	ENSP00000264992		CCDS3068.1			1	
CHST9	0	LGGM	GRCh37	18	24496378	24496378	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	75	10	.	.	ENST00000284224.8:c.1177C>T	p.Pro393Ser	p.P393S	ENST00000284224	NM_031422.5	393	Ccc/Tcc	0	1		UPI000006EC67	0	NA	ENST00000581714		ENSG00000154080	19898		85	3.285		HGNC	p.P393S		CHST9		SNV							ENST00000581714	protein_coding	getma.org/?cm=var&var=hg19,18,24496378,G,A&fts=all		Pfam_domain:PF03567,hmmpanther:PTHR12137,hmmpanther:PTHR12137:SF6		P/S		A	medium	1406/2043		getma.org/?cm=msa&ty=f&p=CHST9_HUMAN&rb=204&re=439&var=P393S	deleterious(0)					CHST9,missense_variant,p.Pro393Ser,ENST00000284224,NM_031422.5;CHST9,missense_variant,p.Pro393Ser,ENST00000581714,;CHST9,3_prime_UTR_variant,,ENST00000580774,NM_001256316.1;AQP4-AS1,intron_variant,,ENST00000568797,;AQP4-AS1,intron_variant,,ENST00000578701,;AQP4-AS1,intron_variant,,ENST00000582605,;AQP4-AS1,intron_variant,,ENST00000579964,;							MODERATE	1177/1332	P393S	CHST9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000462852		CCDS42422.1			1	
RAB36	0	LGGM	GRCh37	22	23495284	23495284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	39	10	.	.	ENST00000263116.2:c.490C>A	p.Arg164Ser	p.R164S	ENST00000263116	NM_004914.2	164	Cgc/Agc	0	1	1	UPI000013D3AA	0	getma.org/pdb.php?prot=RAB36_HUMAN&from=125&to=289&var=R164S	ENST00000263116		ENSG00000100228	9775		49	0.425		HGNC	p.R142S		RAB36		SNV							ENST00000341989	protein_coding	getma.org/?cm=var&var=hg19,22,23495284,C,A&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF451,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00177,Superfamily_domains:SSF52540		R/S		A	neutral	530/3828		getma.org/?cm=msa&ty=f&p=RAB36_HUMAN&rb=125&re=289&var=R164S	deleterious(0)				YES	RAB36,missense_variant,p.Arg164Ser,ENST00000263116,NM_004914.2;RAB36,missense_variant,p.Arg142Ser,ENST00000341989,;RAB36,missense_variant,p.Arg59Ser,ENST00000420895,;							MODERATE	490/1002	R164S	RAB36_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263116		CCDS13805.1			1	
ASTE1	0	LGGM	GRCh37	3	130743305	130743305	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	26	10	.	.	ENST00000264992.3:c.846A>C	p.Lys282Asn	p.K282N	ENST00000264992	NM_014065.2	282	aaA/aaC	0	1	1	UPI00001B6B0B	0	NA	ENST00000264992		ENSG00000034533	25021		36	0.895		HGNC	p.K282N		ASTE1		SNV							ENST00000264992	protein_coding	getma.org/?cm=var&var=hg19,3,130743305,T,G&fts=all		hmmpanther:PTHR15665		K/N		G	low	1288/2664		getma.org/?cm=msa&ty=f&p=ASTE1_HUMAN&rb=115&re=392&var=K282N	tolerated(0.16)	D6RJF1_HUMAN,D6R9W5_HUMAN			YES	ASTE1,missense_variant,p.Lys282Asn,ENST00000264992,NM_014065.2;ASTE1,missense_variant,p.Lys282Asn,ENST00000514044,;NEK11,upstream_gene_variant,,ENST00000383366,NM_024800.4;NEK11,upstream_gene_variant,,ENST00000429253,;NEK11,upstream_gene_variant,,ENST00000510688,NM_001146003.1;NEK11,upstream_gene_variant,,ENST00000412440,;NEK11,upstream_gene_variant,,ENST00000510769,;NEK11,upstream_gene_variant,,ENST00000511262,NM_145910.3;NEK11,upstream_gene_variant,,ENST00000507910,;NEK11,upstream_gene_variant,,ENST00000356918,;ASTE1,downstream_gene_variant,,ENST00000509060,;ASTE1,downstream_gene_variant,,ENST00000504725,;ASTE1,downstream_gene_variant,,ENST00000505545,;ASTE1,upstream_gene_variant,,ENST00000505290,;NEK11,upstream_gene_variant,,ENST00000507967,;NEK11,upstream_gene_variant,,ENST00000513550,;ASTE1,missense_variant,p.Lys282Asn,ENST00000507978,;ASTE1,intron_variant,,ENST00000504964,;NEK11,upstream_gene_variant,,ENST00000514915,;NEK11,upstream_gene_variant,,ENST00000510474,;NEK11,upstream_gene_variant,,ENST00000506695,;							MODERATE	846/2040	K282N	ASTE1_HUMAN			Transcript		benign(0.06)	.	ENSP00000264992		CCDS3068.1			1	
SEL1L	0	LGGM	GRCh37	14	81972510	81972510	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	40	11	.	.	ENST00000336735.4:c.416A>G	p.Asp139Gly	p.D139G	ENST00000336735	NM_005065.5	139	gAt/gGt	0	1	1	UPI0000135746	0	getma.org/pdb.php?prot=SE1L1_HUMAN&from=127&to=168&var=D139G	ENST00000336735		ENSG00000071537	10717		51	1.15		HGNC	p.D139G		SEL1L		SNV							ENST00000336735	protein_coding	getma.org/?cm=var&var=hg19,14,81972510,T,C&fts=all		PROSITE_profiles:PS51092,hmmpanther:PTHR11102:SF55,hmmpanther:PTHR11102,PROSITE_patterns:PS00023,Gene3D:2.10.10.10,Pfam_domain:PF00040,SMART_domains:SM00059,Superfamily_domains:SSF57440,Prints_domain:PR00013		D/G		C	low	533/7925		getma.org/?cm=msa&ty=f&p=SE1L1_HUMAN&rb=127&re=168&var=D139G	tolerated_low_confidence(0.1)				YES	SEL1L,missense_variant,p.Asp139Gly,ENST00000336735,NM_005065.5;SEL1L,missense_variant,p.Asp139Gly,ENST00000555824,NM_001244984.1;SEL1L,missense_variant,p.Asp118Gly,ENST00000557372,;SEL1L,upstream_gene_variant,,ENST00000554744,;							MODERATE	416/2385	D139G	SE1L1_HUMAN			Transcript		benign(0.08)	.	ENSP00000337053		CCDS9876.1			1	
PRRC2C	0	LGGM	GRCh37	1	171505397	171505397	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	73	13	.	.	ENST00000338920.4:c.2267A>G	p.Asp756Gly	p.D756G	ENST00000338920	NM_015172.3	756	gAt/gGt	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		86	2.325		HGNC	p.D756G		PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171505397,A,G&fts=all		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		D/G		G	medium	2504/10355		getma.org/?cm=msa&ty=f&p=PRC2C_HUMAN&rb=565&re=764&var=D756G					YES	PRRC2C,missense_variant,p.Asp758Gly,ENST00000367742,;PRRC2C,missense_variant,p.Asp756Gly,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Asp758Gly,ENST00000392078,;PRRC2C,missense_variant,p.Asp756Gly,ENST00000426496,;PRRC2C,downstream_gene_variant,,ENST00000476522,;							MODERATE	2267/8454	D756G	PRC2C_HUMAN			Transcript		unknown(0)	.	ENSP00000343629		CCDS1296.2			1	
HEATR5B	0	LGGM	GRCh37	2	37227748	37227748	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	40	13	.	.	ENST00000233099.5:c.5526C>A	p.Ile1842=	p.I1842=	ENST00000233099	NM_019024.1	1842	atC/atA	0	1	1	UPI0000160DCD	0		ENST00000233099		ENSG00000008869	29273		53			HGNC	p.I1753I		HEATR5B		SNV							ENST00000354531	protein_coding			hmmpanther:PTHR21663,hmmpanther:PTHR21663:SF2,Superfamily_domains:SSF48371		I		T		5622/6905							YES	HEATR5B,synonymous_variant,p.=,ENST00000233099,NM_019024.1;HEATR5B,synonymous_variant,p.=,ENST00000354531,;							LOW	5526/6216		HTR5B_HUMAN			Transcript			.	ENSP00000233099		CCDS33181.1			1	
RPF1	0	LGGM	GRCh37	1	84945135	84945135	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	29	16	.	.	ENST00000370654.5:c.171T>G	p.Ile57Met	p.I57M	ENST00000370654	NM_025065.6	57	atT/atG	0	1	1	UPI0000034DF7	0	NA	ENST00000370654		ENSG00000117133	30350		45	2.28		HGNC	p.I57M		RPF1		SNV							ENST00000370654	protein_coding	getma.org/?cm=var&var=hg19,1,84945135,T,G&fts=all		hmmpanther:PTHR22734:SF1,hmmpanther:PTHR22734		I/M		G	medium	186/1385		getma.org/?cm=msa&ty=f&p=RPF1_HUMAN&rb=41&re=89&var=I57M	deleterious(0.04)				YES	RPF1,missense_variant,p.Ile57Met,ENST00000370654,NM_025065.6;RPF1,missense_variant,p.Ile57Met,ENST00000370656,;							MODERATE	171/1050	I57M	RPF1_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000359688		CCDS695.1			1	
OXR1	0	LGGM	GRCh37	8	107705089	107705089	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	56	16	.	.	ENST00000442977.2:c.662A>G	p.Tyr221Cys	p.Y221C	ENST00000442977	NM_001198532.1	221	tAt/tGt	0	1	1	UPI0001914BEA	0	NA	ENST00000442977		ENSG00000164830	15822		72	1.78		HGNC	p.Y220C		OXR1		SNV							ENST00000445937	protein_coding	getma.org/?cm=var&var=hg19,8,107705089,A,G&fts=all		hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF69		Y/C		G	low	761/2956		getma.org/?cm=msa&ty=f&p=OXR1_HUMAN&rb=199&re=274&var=Y221C	deleterious(0)	E9PLW2_HUMAN			YES	OXR1,missense_variant,p.Tyr220Cys,ENST00000445937,NM_018002.3;OXR1,missense_variant,p.Tyr220Cys,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Tyr213Cys,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Tyr220Cys,ENST00000531443,;OXR1,missense_variant,p.Tyr221Cys,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Tyr153Cys,ENST00000497705,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,non_coding_transcript_exon_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;TAGLN2P1,downstream_gene_variant,,ENST00000524097,;							MODERATE	662/2625	Y221C	OXR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000405424		CCDS56548.1			1	
TMEM132B	0	LGGM	GRCh37	12	126138172	126138172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	44	17	.	.	ENST00000299308.3:c.2153A>G	p.Tyr718Cys	p.Y718C	ENST00000299308	NM_052907.2	718	tAc/tGc	0	1	1	UPI00006BFF58	0	NA	ENST00000299308		ENSG00000139364	29397		61	2.44		HGNC	p.Y230C		TMEM132B		SNV							ENST00000535886	protein_coding	getma.org/?cm=var&var=hg19,12,126138172,A,G&fts=all		hmmpanther:PTHR13388,hmmpanther:PTHR13388:SF5		Y/C		G	medium	2161/10906		getma.org/?cm=msa&ty=f&p=T132B_HUMAN&rb=13&re=1076&var=Y718C	deleterious(0.01)				YES	TMEM132B,missense_variant,p.Tyr718Cys,ENST00000299308,NM_052907.2;TMEM132B,missense_variant,p.Tyr230Cys,ENST00000535886,NM_001286219.1;							MODERATE	2153/3237	Y718C	T132B_HUMAN			Transcript		benign(0.191)	.	ENSP00000299308		CCDS41859.1			1	
RBM11	0	LGGM	GRCh37	21	15592013	15592013	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	72	18	.	.	ENST00000400577.3:c.226T>C	p.Tyr76His	p.Y76H	ENST00000400577	NM_144770.3	76	Tat/Cat	0	1	1	UPI0000133382	0	getma.org/pdb.php?prot=RBM11_HUMAN&from=12&to=81&var=Y76H	ENST00000400577		ENSG00000185272	9897		90	0.91		HGNC	p.Y76H	rs752115829	RBM11		SNV							ENST00000400577	protein_coding	getma.org/?cm=var&var=hg19,21,15592013,T,C&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR13798,hmmpanther:PTHR13798:SF5,SMART_domains:SM00360,Superfamily_domains:SSF54928		Y/H		C	low	235/1934	1.57E-05	getma.org/?cm=msa&ty=f&p=RBM11_HUMAN&rb=12&re=81&var=Y76H	deleterious(0.01)	D3DSC2_HUMAN			YES	RBM11,missense_variant,p.Tyr76His,ENST00000400577,NM_144770.3;RBM11,non_coding_transcript_exon_variant,,ENST00000468643,;RBM11,non_coding_transcript_exon_variant,,ENST00000468788,;RBM11,intron_variant,,ENST00000495055,;RBM11,upstream_gene_variant,,ENST00000475864,;RBM11,non_coding_transcript_exon_variant,,ENST00000461088,;							MODERATE	226/846	Y76H	RBM11_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000383421	8.31E-06	CCDS46635.1			1	
GRIP1	0	LGGM	GRCh37	12	66932988	66932988	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	75	20	.	.	ENST00000398016.3:c.288T>C	p.Asp96=	p.D96=	ENST00000398016	NM_021150.3	96	gaT/gaC	0	1		UPI00001D798A	0		ENST00000359742		ENSG00000155974	18708		95			HGNC	p.D96D		GRIP1		SNV			1				ENST00000398016	protein_coding			PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF39,hmmpanther:PTHR10316,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		D		G		529/5216				F5H5I0_HUMAN,F5H424_HUMAN				GRIP1,synonymous_variant,p.=,ENST00000359742,;GRIP1,synonymous_variant,p.=,ENST00000286445,;GRIP1,synonymous_variant,p.=,ENST00000398016,NM_021150.3;GRIP1,synonymous_variant,p.=,ENST00000538211,NM_001178074.1;GRIP1,synonymous_variant,p.=,ENST00000540433,;GRIP1,synonymous_variant,p.=,ENST00000536215,;GRIP1,synonymous_variant,p.=,ENST00000545666,;GRIP1,synonymous_variant,p.=,ENST00000542309,;GRIP1,synonymous_variant,p.=,ENST00000541947,;GRIP1,synonymous_variant,p.=,ENST00000539540,;GRIP1,upstream_gene_variant,,ENST00000540854,;GRIP1,downstream_gene_variant,,ENST00000538373,;							LOW	288/3387		GRIP1_HUMAN			Transcript			.	ENSP00000352780					1	
ZNF43	0	LGGM	GRCh37	19	21992437	21992437	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	57	20	.	.	ENST00000354959.4:c.402T>A	p.Phe134Leu	p.F134L	ENST00000354959	NM_003423.3	134	ttT/ttA	0	1	1	UPI00001BD957	0	NA	ENST00000354959		ENSG00000198521	13109		77	-1.905		HGNC	p.F69L		ZNF43		SNV							ENST00000599906	protein_coding	getma.org/?cm=var&var=hg19,19,21992437,A,T&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF220		F/L		T	neutral	572/2881		getma.org/?cm=msa&ty=f&p=ZNF43_HUMAN&rb=45&re=159&var=F134L	tolerated(1)	M0R0T7_HUMAN,M0QYJ6_HUMAN,M0QXI2_HUMAN			YES	ZNF43,missense_variant,p.Phe128Leu,ENST00000594012,NM_001256649.1,NM_001256654.1,NM_001256653.1,NM_001256651.1;ZNF43,missense_variant,p.Phe128Leu,ENST00000595461,NM_001256648.1;ZNF43,missense_variant,p.Phe128Leu,ENST00000598381,NM_001256650.1;ZNF43,missense_variant,p.Phe134Leu,ENST00000354959,NM_003423.3;ZNF43,missense_variant,p.Phe69Leu,ENST00000599906,;ZNF43,downstream_gene_variant,,ENST00000598288,;ZNF43,downstream_gene_variant,,ENST00000596899,;							MODERATE	402/2430	F134L	ZNF43_HUMAN			Transcript		benign(0.001)	.	ENSP00000347045		CCDS12413.2			1	
RPF2	0	LGGM	GRCh37	6	111346696	111346696	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093884	H093884N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	95	22	.	.	ENST00000441448.2:c.832A>G	p.Thr278Ala	p.T278A	ENST00000441448	NM_032194.1	278	Acc/Gcc	0	1	1	UPI000006E56D	0	NA	ENST00000441448		ENSG00000197498	20870		117	3.16		HGNC	p.T278A	rs762840950	RPF2		SNV				0.000197			ENST00000441448	protein_coding	getma.org/?cm=var&var=hg19,6,111346696,A,G&fts=all		hmmpanther:PTHR12728,hmmpanther:PTHR12728:SF0		T/A		G	medium	924/1531	1.51E-05	getma.org/?cm=msa&ty=f&p=RPF2_HUMAN&rb=229&re=306&var=T278A	deleterious(0.05)	Q5VXN0_HUMAN			YES	RPF2,missense_variant,p.Thr278Ala,ENST00000441448,NM_032194.1;RPF2,downstream_gene_variant,,ENST00000425871,;RPF2,3_prime_UTR_variant,,ENST00000607388,;RPF2,downstream_gene_variant,,ENST00000368864,;							MODERATE	832/921	T278A	RPF2_HUMAN			Transcript		benign(0.071)	.	ENSP00000402338	2.47E-05	CCDS5088.1			1	
SERPING1	0	LGGM	GRCh37	11	57367392	57367392	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	50	24	.	.	ENST00000278407.4:c.92C>T	p.Ser31Phe	p.S31F	ENST00000278407	NM_000062.2	31	tCc/tTc	0	1	1	UPI000000123F	0	NA	ENST00000278407		ENSG00000149131	1228		74	1.175		HGNC	p.S31F		SERPING1		SNV			1				ENST00000278407	protein_coding	getma.org/?cm=var&var=hg19,11,57367392,C,T&fts=all		Low_complexity_(Seg):seg		S/F		T	low	319/2002		getma.org/?cm=msa&ty=f&p=IC1_HUMAN&rb=1&re=143&var=S31F	tolerated_low_confidence(0.73)	E9KL26_HUMAN,B5MCB9_HUMAN,B4E1H2_HUMAN			YES	SERPING1,missense_variant,p.Ser65Phe,ENST00000403558,NM_001032295.1;SERPING1,missense_variant,p.Ser31Phe,ENST00000278407,NM_000062.2;SERPING1,missense_variant,p.Ser36Phe,ENST00000378323,;SERPING1,missense_variant,p.Ser31Phe,ENST00000340687,;SERPING1,missense_variant,p.Ser31Phe,ENST00000405496,;SERPING1,missense_variant,p.Ser65Phe,ENST00000457869,;SERPING1,5_prime_UTR_variant,,ENST00000378324,;SERPING1,upstream_gene_variant,,ENST00000531605,;SERPING1,intron_variant,,ENST00000531133,;SERPING1,intron_variant,,ENST00000531797,;							MODERATE	92/1503	S31F	IC1_HUMAN			Transcript		possibly_damaging(0.485)	.	ENSP00000278407		CCDS7962.1			1	
TMPRSS15	0	LGGM	GRCh37	21	19685337	19685337	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093884	H093884N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	59	24	.	.	ENST00000284885.3:c.2090G>A	p.Ser697Asn	p.S697N	ENST00000284885	NM_002772.2	697	aGc/aAc	0	1	1	UPI000013DDBE	0	NA	ENST00000284885		ENSG00000154646	9490		83	1.465		HGNC	p.S697N		TMPRSS15		SNV			1				ENST00000284885	protein_coding	getma.org/?cm=var&var=hg19,21,19685337,C,T&fts=all		PROSITE_profiles:PS50287,hmmpanther:PTHR24256:SF93,hmmpanther:PTHR24256,Gene3D:3.10.250.10,Pfam_domain:PF15494,SMART_domains:SM00202,Superfamily_domains:SSF56487		S/N		T	low	2124/3947		getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=681&re=781&var=S697N	tolerated(0.45)	Q9NR95_HUMAN			YES	TMPRSS15,missense_variant,p.Ser697Asn,ENST00000284885,NM_002772.2;							MODERATE	2090/3060	S697N	ENTK_HUMAN			Transcript		benign(0.02)	.	ENSP00000284885		CCDS13571.1			1	
FN3KRP	0	LGGM	GRCh37	17	80684995	80684995	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093884	H093884N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	48	29	.	.	ENST00000269373.6:c.878G>T	p.Gly293Val	p.G293V	ENST00000269373	NM_024619.3	293	gGa/gTa	0	1	1	UPI000006F7D6	0	getma.org/pdb.php?prot=KT3K_HUMAN&from=2&to=309&var=G293V	ENST00000269373		ENSG00000141560	25700		77	4.085		HGNC	p.G243V		FN3KRP		SNV							ENST00000535965	protein_coding	getma.org/?cm=var&var=hg19,17,80684995,G,T&fts=all		hmmpanther:PTHR12149:SF6,hmmpanther:PTHR12149,Pfam_domain:PF03881,PIRSF_domain:PIRSF006221,Superfamily_domains:SSF56112		G/V		T	high	951/1849		getma.org/?cm=msa&ty=f&p=KT3K_HUMAN&rb=2&re=309&var=G293V	deleterious(0)	I3L378_HUMAN,F5H4E4_HUMAN			YES	FN3KRP,missense_variant,p.Gly293Val,ENST00000269373,NM_024619.3;FN3KRP,missense_variant,p.Gly243Val,ENST00000535965,;FN3KRP,missense_variant,p.Gly117Val,ENST00000573158,;FN3KRP,downstream_gene_variant,,ENST00000577128,;RP11-388C12.5,downstream_gene_variant,,ENST00000570919,;FN3KRP,missense_variant,p.Gly2Val,ENST00000571594,;FN3KRP,3_prime_UTR_variant,,ENST00000574832,;FN3KRP,downstream_gene_variant,,ENST00000574356,;FN3KRP,downstream_gene_variant,,ENST00000574206,;FN3KRP,downstream_gene_variant,,ENST00000576363,;FN3KRP,downstream_gene_variant,,ENST00000571482,;							MODERATE	878/930	G293V	KT3K_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269373		CCDS11817.1			1	
SNX13	0	LGGM	GRCh37	7	17890520	17890520	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	58	29	.	.	ENST00000428135.3:c.905A>T	p.Glu302Val	p.E302V	ENST00000428135	NM_015132.4	302	gAg/gTg	0	1	1	UPI000002B3E8	0	NA	ENST00000428135		ENSG00000071189	21335		87	1.7		HGNC	p.E302V		SNX13		SNV							ENST00000428135	protein_coding	getma.org/?cm=var&var=hg19,7,17890520,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF26		E/V		A	low	1104/6357		getma.org/?cm=msa&ty=f&p=SNX13_HUMAN&rb=284&re=372&var=E302V	deleterious(0)	B3KN60_HUMAN			YES	SNX13,missense_variant,p.Glu302Val,ENST00000409389,;SNX13,missense_variant,p.Glu302Val,ENST00000428135,NM_015132.4;SNX13,3_prime_UTR_variant,,ENST00000409076,;SNX13,3_prime_UTR_variant,,ENST00000444712,;							MODERATE	905/2874	E302V	SNX13_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000398789		CCDS47551.1			1	
NDUFV3	0	LGGM	GRCh37	21	44323894	44323894	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093884	H093884N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093884N.bam, H093884T.bam	Illumina HiSeq	155	56	.	.	ENST00000354250.2:c.772T>A	p.Phe258Ile	p.F258I	ENST00000354250	NM_021075.3	258	Ttt/Att	0	1		UPI0000130A1F	0	NA	ENST00000340344		ENSG00000160194	7719		211	0.46		HGNC	p.F258I		NDUFV3		SNV							ENST00000354250	protein_coding	getma.org/?cm=var&var=hg19,21,44323894,T,A&fts=all						A	neutral	-/4676		getma.org/?cm=msa&ty=f&p=Q96DP0_HUMAN&rb=203&re=402&var=F241I						NDUFV3,missense_variant,p.Phe258Ile,ENST00000354250,NM_021075.3;NDUFV3,intron_variant,,ENST00000340344,NM_001001503.1;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460259,;NDUFV3,non_coding_transcript_exon_variant,,ENST00000460740,;							MODIFIER	-/327	F241I	NDUV3_HUMAN			Transcript			.	ENSP00000342895		CCDS33573.1			1	
HIVEP3	0	LGGM	GRCh37	1	42047368	42047368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	11	2	.	.	ENST00000372583.1:c.3101G>T	p.Arg1034Leu	p.R1034L	ENST00000372583	NM_024503.4	1034	cGg/cTg	0	1		UPI000013CC24	0	NA	ENST00000247584		ENSG00000127124	13561		13	-0.895		HGNC	p.R1034L		HIVEP3		SNV							ENST00000372584	protein_coding	getma.org/?cm=var&var=hg19,1,42047368,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233		R/L		A	neutral	3907/8465		getma.org/?cm=msa&ty=f&p=ZEP3_HUMAN&rb=731&re=1059&var=R1034L						HIVEP3,missense_variant,p.Arg1034Leu,ENST00000372584,NM_001127714.2;HIVEP3,missense_variant,p.Arg1034Leu,ENST00000372583,NM_024503.4;HIVEP3,missense_variant,p.Arg1034Leu,ENST00000247584,;HIVEP3,missense_variant,p.Arg1034Leu,ENST00000429157,;HIVEP3,upstream_gene_variant,,ENST00000460604,;							MODERATE	3101/7221	R1034L	ZEP3_HUMAN			Transcript		benign(0.001)	.	ENSP00000247584		CCDS463.1			1	
FOXK1	0	LGGM	GRCh37	7	4801880	4801880	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	12	2	.	.	ENST00000328914.4:c.1987C>A	p.Arg663=	p.R663=	ENST00000328914	NM_001037165.1	663	Cgg/Agg	0	1	1	UPI00004158EB	0		ENST00000328914		ENSG00000164916	23480		14			HGNC	p.R663R		FOXK1		SNV							ENST00000328914	protein_coding			hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829		R		A		1987/11181				B3KV39_HUMAN			YES	FOXK1,synonymous_variant,p.=,ENST00000328914,NM_001037165.1;FOXK1,synonymous_variant,p.=,ENST00000446823,;FOXK1,downstream_gene_variant,,ENST00000496023,;							LOW	1987/2202		FOXK1_HUMAN			Transcript			.	ENSP00000328720		CCDS34591.1			1	
ZBTB7C	0	LGGM	GRCh37	18	45556256	45556256	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	11	2	.	.	ENST00000588982.1:c.1235G>T	p.Arg412Leu	p.R412L	ENST00000588982		412	cGg/cTg	0	1		UPI0000073FE3	0	getma.org/pdb.php?prot=ZBT7C_HUMAN&from=406&to=431&var=R412L	ENST00000535628		ENSG00000184828	31700		13	0.885		HGNC	p.R412L		ZBTB7C		SNV							ENST00000332053	protein_coding	getma.org/?cm=var&var=hg19,18,45556256,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR11389:SF361,hmmpanther:PTHR11389,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/L		A	low	1606/4818		getma.org/?cm=msa&ty=f&p=ZBT7C_HUMAN&rb=386&re=451&var=R412L	deleterious(0)	B2RGG0_HUMAN,B2RG63_HUMAN,B2RG49_HUMAN				ZBTB7C,missense_variant,p.Arg412Leu,ENST00000588982,;ZBTB7C,missense_variant,p.Arg412Leu,ENST00000590800,;ZBTB7C,missense_variant,p.Arg412Leu,ENST00000586438,;ZBTB7C,missense_variant,p.Arg412Leu,ENST00000535628,NM_001039360.2;ZBTB7C,missense_variant,p.Arg412Leu,ENST00000332053,;							MODERATE	1235/1860	R412L	ZBT7C_HUMAN			Transcript		possibly_damaging(0.79)	.	ENSP00000439781		CCDS32830.1			1	
FAM81B	0	LGGM	GRCh37	5	94782402	94782402	+	splice_donor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	42	3	.	.	ENST00000283357.5:c.1029+1G>C		p.X343_splice	ENST00000283357	NM_152548.2			0	1	1	UPI000045731A	0		ENST00000283357		ENSG00000153347	26335		45			HGNC	-		FAM81B		SNV							ENST00000283357	protein_coding							C		-/1560							YES	FAM81B,splice_donor_variant,,ENST00000283357,NM_152548.2;FAM81B,intron_variant,,ENST00000512365,;FAM81B,splice_donor_variant,,ENST00000507832,;FAM81B,intron_variant,,ENST00000513110,;FAM81B,downstream_gene_variant,,ENST00000503361,;							HIGH	1029/1359		FA81B_HUMAN			Transcript			.	ENSP00000283357		CCDS43341.1			1	
CABIN1	0	LGGM	GRCh37	22	24466850	24466850	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	28	3	.	.	ENST00000398319.2:c.2332G>T	p.Ala778Ser	p.A778S	ENST00000398319	NM_001199281.1	778	Gcc/Tcc	0	1		UPI0000126D6C	0	NA	ENST00000263119		ENSG00000099991	24187		31	-0.205		HGNC	p.A728S		CABIN1		SNV							ENST00000405822	protein_coding	getma.org/?cm=var&var=hg19,22,24466850,G,T&fts=all		hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7		A/S		T	neutral	2459/7222		getma.org/?cm=msa&ty=f&p=CABIN_HUMAN&rb=291&re=1359&var=A778S	tolerated(0.71)					CABIN1,missense_variant,p.Ala778Ser,ENST00000398319,NM_001199281.1;CABIN1,missense_variant,p.Ala778Ser,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,missense_variant,p.Ala728Ser,ENST00000405822,;CABIN1,non_coding_transcript_exon_variant,,ENST00000484593,;							MODERATE	2332/6663	A778S	CABIN_HUMAN			Transcript		benign(0.005)	.	ENSP00000263119		CCDS13823.1			1	
TCN2	0	LGGM	GRCh37	22	31011407	31011407	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	43	3	.	.	ENST00000215838.3:c.700C>A	p.Gln234Lys	p.Q234K	ENST00000215838		234	Cag/Aag	0	1	1	UPI0000167BDB	0	getma.org/pdb.php?prot=TCO2_HUMAN&from=1&to=327&var=Q234K	ENST00000215838		ENSG00000185339	11653		46	1.405		HGNC	p.Q230K		TCN2		SNV			1				ENST00000405742	protein_coding	getma.org/?cm=var&var=hg19,22,31011407,C,A&fts=all		hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF14,Pfam_domain:PF01122,Superfamily_domains:SSF48239		Q/K		A	low	1194/2535		getma.org/?cm=msa&ty=f&p=TCO2_HUMAN&rb=1&re=327&var=Q234K	tolerated(0.1)				YES	TCN2,missense_variant,p.Gln234Lys,ENST00000215838,;TCN2,missense_variant,p.Gln230Lys,ENST00000405742,NM_000355.3;TCN2,missense_variant,p.Gln207Lys,ENST00000407817,NM_001184726.1;TCN2,downstream_gene_variant,,ENST00000423350,;TCN2,3_prime_UTR_variant,,ENST00000450638,;TCN2,upstream_gene_variant,,ENST00000493542,;TCN2,upstream_gene_variant,,ENST00000471659,;							MODERATE	700/1284	Q234K	TCO2_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000215838		CCDS13881.1			1	
PLXNA1	0	LGGM	GRCh37	3	126734038	126734038	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	40	3	.	.	ENST00000393409.2:c.2889C>A	p.Phe963Leu	p.F963L	ENST00000393409	NM_032242.3	963	ttC/ttA	0	1	1	UPI00001A7983	0	getma.org/pdb.php?prot=PLXA1_HUMAN&from=961&to=1044&var=F963L	ENST00000393409		ENSG00000114554	9099		43	0.63		HGNC	p.F963L		PLXNA1		SNV							ENST00000393409	protein_coding	getma.org/?cm=var&var=hg19,3,126734038,C,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296		F/L		A	neutral	2889/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=961&re=1044&var=F963L	tolerated(0.67)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Phe963Leu,ENST00000393409,NM_032242.3;PLXNA1,missense_variant,p.Phe940Leu,ENST00000251772,;							MODERATE	2889/5691	F963L	PLXA1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000377061		CCDS33847.2			1	
SLC5A1	0	LGGM	GRCh37	22	32506196	32506196	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	38	3	.	.	ENST00000266088.4:c.1991C>A	p.Ala664Asp	p.A664D	ENST00000266088	NM_000343.3	664	gCc/gAc	0	1	1	UPI00001359EA	0	NA	ENST00000266088		ENSG00000100170	11036		41	3.04		HGNC	p.A664D		SLC5A1		SNV			1				ENST00000266088	protein_coding	getma.org/?cm=var&var=hg19,22,32506196,C,A&fts=all		hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF99		A/D		A	medium	2241/5061		getma.org/?cm=msa&ty=f&p=SC5A1_HUMAN&rb=493&re=664&var=A664D	deleterious(0)	A4QPH0_HUMAN			YES	SLC5A1,missense_variant,p.Ala664Asp,ENST00000266088,NM_000343.3;SLC5A1,missense_variant,p.Ala537Asp,ENST00000543737,NM_001256314.1;							MODERATE	1991/1995	A664D	SC5A1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000266088		CCDS13902.1			1	
OLFM1	0	LGGM	GRCh37	9	137967627	137967627	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	4	3	.	.	ENST00000252854.4:c.75G>A	p.Leu25=	p.L25=	ENST00000252854	NM_014279.4	25	ctG/ctA	0	1	1	UPI000013CD8C	0		ENST00000252854		ENSG00000130558	17187		7			HGNC	p.L25L		OLFM1		SNV							ENST00000371801	protein_coding			hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF34,Cleavage_site_(Signalp):SignalP-noTM		L		A		262/2591				Q6IMJ8_HUMAN,Q96BL8_HUMAN,F5H810_HUMAN,F5GZQ2_HUMAN,B3KR22_HUMAN			YES	OLFM1,synonymous_variant,p.=,ENST00000252854,NM_014279.4;OLFM1,synonymous_variant,p.=,ENST00000277415,NM_006334.3;OLFM1,synonymous_variant,p.=,ENST00000371799,;OLFM1,synonymous_variant,p.=,ENST00000371801,;							LOW	75/1404		NOE1_HUMAN			Transcript			.	ENSP00000252854		CCDS6986.1			1	
NCSTN	0	LGGM	GRCh37	1	160318883	160318883	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	31	3	.	.	ENST00000294785.5:c.285G>T	p.Met95Ile	p.M95I	ENST00000294785	NM_015331.2	95	atG/atT	0	1	1	UPI0000042050	0	NA	ENST00000294785		ENSG00000162736	17091		34	1.38		HGNC	p.M95I		NCSTN		SNV			1				ENST00000294785	protein_coding	getma.org/?cm=var&var=hg19,1,160318883,G,T&fts=all		hmmpanther:PTHR21092,hmmpanther:PTHR21092:SF0		M/I		T	low	410/2936		getma.org/?cm=msa&ty=f&p=NICA_HUMAN&rb=1&re=200&var=M95I	tolerated(0.31)	E7ENA9_HUMAN			YES	NCSTN,missense_variant,p.Met75Ile,ENST00000368063,;NCSTN,missense_variant,p.Met95Ile,ENST00000294785,NM_015331.2;NCSTN,missense_variant,p.Met75Ile,ENST00000392212,;NCSTN,missense_variant,p.Met95Ile,ENST00000535857,;NCSTN,missense_variant,p.Met95Ile,ENST00000421914,;NCSTN,missense_variant,p.Met128Ile,ENST00000438008,;NCSTN,missense_variant,p.Met95Ile,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,;							MODERATE	285/2130	M95I	NICA_HUMAN			Transcript		benign(0.001)	.	ENSP00000294785		CCDS1203.1			1	
LTBP4	0	LGGM	GRCh37	19	41129538	41129538	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	47	3	.	.	ENST00000308370.7:c.3784C>A	p.Gln1262Lys	p.Q1262K	ENST00000308370	NM_001042544.1	1262	Cag/Aag	0	1	1	UPI000179A7A0	0		ENST00000308370		ENSG00000090006	6717		50			HGNC	p.Q1225K		LTBP4		SNV			1				ENST00000204005	protein_coding			Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026		Q/K		A		3784/5142			deleterious(0.04)				YES	LTBP4,missense_variant,p.Gln1262Lys,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Gln1225Lys,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Gln1195Lys,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Gln630Lys,ENST00000545697,;LTBP4,missense_variant,p.Gln409Lys,ENST00000601032,;LTBP4,missense_variant,p.Gln172Lys,ENST00000599724,;LTBP4,missense_variant,p.Gln189Lys,ENST00000593463,;LTBP4,3_prime_UTR_variant,,ENST00000243562,;LTBP4,downstream_gene_variant,,ENST00000597071,;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,,ENST00000597603,;LTBP4,upstream_gene_variant,,ENST00000598166,;LTBP4,downstream_gene_variant,,ENST00000601560,;LTBP4,downstream_gene_variant,,ENST00000595183,;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,,ENST00000594266,;LTBP4,non_coding_transcript_exon_variant,,ENST00000597816,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595767,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595665,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598178,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594116,;LTBP4,downstream_gene_variant,,ENST00000600499,;LTBP4,downstream_gene_variant,,ENST00000594457,;LTBP4,downstream_gene_variant,,ENST00000594448,;LTBP4,downstream_gene_variant,,ENST00000593614,;LTBP4,downstream_gene_variant,,ENST00000596351,;LTBP4,upstream_gene_variant,,ENST00000597151,;							MODERATE	3784/4872		LTBP4_HUMAN			Transcript		benign(0.158)	.	ENSP00000311905					1	
RAVER2	0	LGGM	GRCh37	1	65247194	65247194	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	40	3	.	.	ENST00000371072.4:c.918C>A	p.Phe306Leu	p.F306L	ENST00000371072	NM_018211.3	306	ttC/ttA	0	1		UPI000050AAAF	0	getma.org/pdb.php?prot=RAVR2_HUMAN&from=304&to=689&var=F306L	ENST00000294428		ENSG00000162437	25577		43	1.545		HGNC	p.F306L		RAVER2		SNV							ENST00000294428	protein_coding	getma.org/?cm=var&var=hg19,1,65247194,C,A&fts=all		Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF6,Superfamily_domains:SSF54928		F/L		A	low	996/4398		getma.org/?cm=msa&ty=f&p=RAVR2_HUMAN&rb=304&re=689&var=F306L	tolerated(0.17)					RAVER2,missense_variant,p.Phe306Leu,ENST00000294428,;RAVER2,missense_variant,p.Phe306Leu,ENST00000371072,NM_018211.3;RAVER2,missense_variant,p.Phe12Leu,ENST00000430964,;RAVER2,missense_variant,p.Phe12Leu,ENST00000418058,;							MODERATE	918/2076	F306L	RAVR2_HUMAN			Transcript		benign(0.158)	.	ENSP00000294428					1	
JAK3	0	LGGM	GRCh37	19	17945391	17945391	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	44	3	.	.	ENST00000458235.1:c.2339T>C	p.Leu780Pro	p.L780P	ENST00000458235	NM_000215.3	780	cTc/cCc	0	1	1	UPI0000071146	0	getma.org/pdb.php?prot=JAK3_HUMAN&from=521&to=781&var=L780P	ENST00000458235		ENSG00000105639	6193		47	3.365		HGNC	p.L780P		JAK3		SNV			1				ENST00000527670	protein_coding	getma.org/?cm=var&var=hg19,19,17945391,A,G&fts=all		PIRSF_domain:PIRSF000636,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF214,Superfamily_domains:SSF56112		L/P		G	medium	2439/5432		getma.org/?cm=msa&ty=f&p=JAK3_HUMAN&rb=521&re=781&var=L780P	deleterious(0)	Q9UMU1_HUMAN,Q6LD09_HUMAN			YES	JAK3,missense_variant,p.Leu780Pro,ENST00000458235,NM_000215.3;JAK3,missense_variant,p.Leu780Pro,ENST00000527670,;JAK3,missense_variant,p.Leu780Pro,ENST00000534444,;JAK3,downstream_gene_variant,,ENST00000526008,;JAK3,intron_variant,,ENST00000527031,;JAK3,downstream_gene_variant,,ENST00000528705,;							MODERATE	2339/3375	L780P	JAK3_HUMAN			Transcript		possibly_damaging(0.609)	.	ENSP00000391676		CCDS12366.1			1	
FGF6	0	LGGM	GRCh37	12	4554516	4554516	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	36	3	.	.	ENST00000228837.2:c.221G>T	p.Trp74Leu	p.W74L	ENST00000228837	NM_020996.1	74	tGg/tTg	0	1	1	UPI00000411BF	0	NA	ENST00000228837		ENSG00000111241	3684		39	1.79		HGNC	p.W74L		FGF6		SNV							ENST00000228837	protein_coding	getma.org/?cm=var&var=hg19,12,4554516,C,A&fts=all		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF25,Gene3D:2.80.10.50		W/L		A	low	265/743		getma.org/?cm=msa&ty=f&p=FGF6_HUMAN&rb=1&re=83&var=W74L	tolerated(0.11)				YES	FGF6,missense_variant,p.Trp74Leu,ENST00000228837,NM_020996.1;FGF6,upstream_gene_variant,,ENST00000543077,;							MODERATE	221/627	W74L	FGF6_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000228837		CCDS8527.1			1	
CLMN	0	LGGM	GRCh37	14	95669929	95669929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	45	3	.	.	ENST00000298912.4:c.1757C>A	p.Pro586His	p.P586H	ENST00000298912	NM_024734.3	586	cCt/cAt	0	1	1	UPI000006DB99	0	NA	ENST00000298912		ENSG00000165959	19972		48	1.7		HGNC	p.P586H		CLMN		SNV							ENST00000298912	protein_coding	getma.org/?cm=var&var=hg19,14,95669929,G,T&fts=all		hmmpanther:PTHR11915:SF223,hmmpanther:PTHR11915		P/H		T	low	1871/12747		getma.org/?cm=msa&ty=f&p=CLMN_HUMAN&rb=433&re=1000&var=P586H	deleterious_low_confidence(0)	G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN			YES	CLMN,missense_variant,p.Pro586His,ENST00000298912,NM_024734.3;CLMN,non_coding_transcript_exon_variant,,ENST00000556454,;RP11-725G5.3,downstream_gene_variant,,ENST00000555482,;							MODERATE	1757/3009	P586H	CLMN_HUMAN			Transcript		possibly_damaging(0.695)	.	ENSP00000298912		CCDS9933.1			1	
RPGR	0	LGGM	GRCh37	X	38144831	38144831	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	58	3	.	.	ENST00000378505.2:c.3421T>G	p.Trp1141Gly	p.W1141G	ENST00000378505	NM_001034853.1	1141	Tgg/Ggg	0	1		UPI0000134632	0	NA	ENST00000339363		ENSG00000156313	10295		61	2.005		HGNC	p.W1141G		RPGR		SNV			1				ENST00000378505	protein_coding	getma.org/?cm=var&var=hg19,X,38144831,A,C&fts=all						C	medium	-/3686		getma.org/?cm=msa&ty=f&p=Q3KN84_HUMAN&rb=1061&re=1151&var=W1141G						RPGR,missense_variant,p.Trp1141Gly,ENST00000378505,NM_001034853.1;RPGR,intron_variant,,ENST00000339363,;RPGR,intron_variant,,ENST00000318842,NM_000328.2;RPGR,intron_variant,,ENST00000338898,;RPGR,intron_variant,,ENST00000309513,;RPGR,intron_variant,,ENST00000342811,;TM4SF2,intron_variant,,ENST00000465127,;RPGR,intron_variant,,ENST00000494707,;RPGR,intron_variant,,ENST00000482855,;RPGR,intron_variant,,ENST00000474584,;							MODIFIER	-/3063	W1141G	RPGR_HUMAN			Transcript			.	ENSP00000343671					1	
B4GALT5	0	LGGM	GRCh37	20	48257180	48257180	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	39	3	.	.	ENST00000371711.4:c.629G>T	p.Arg210Leu	p.R210L	ENST00000371711	NM_004776.3	210	cGa/cTa	0	1	1	UPI0000126720	0	getma.org/pdb.php?prot=B4GT5_HUMAN&from=114&to=251&var=R210L	ENST00000371711		ENSG00000158470	928		42	3.835		HGNC	p.R210L		B4GALT5		SNV							ENST00000371711	protein_coding	getma.org/?cm=var&var=hg19,20,48257180,C,A&fts=all		hmmpanther:PTHR19300:SF37,hmmpanther:PTHR19300,Gene3D:3.90.550.10,Pfam_domain:PF13733,Superfamily_domains:SSF53448,Prints_domain:PR02050		R/L		A	high	817/4722		getma.org/?cm=msa&ty=f&p=B4GT5_HUMAN&rb=114&re=251&var=R210L	deleterious(0)	Q7LFU8_HUMAN			YES	B4GALT5,missense_variant,p.Arg210Leu,ENST00000371711,NM_004776.3;							MODERATE	629/1167	R210L	B4GT5_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000360776		CCDS13420.1			1	
ANKRD33	0	LGGM	GRCh37	12	52284634	52284634	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	47	3	.	.	ENST00000301190.6:c.904G>T	p.Gly302Trp	p.G302W	ENST00000301190	NM_001130015.1	302	Ggg/Tgg	0	1		UPI0000246D2C	0	NA	ENST00000340970		ENSG00000167612	13788		50	2.015		HGNC	p.G177W		ANKRD33		SNV							ENST00000340970	protein_coding	getma.org/?cm=var&var=hg19,12,52284634,G,T&fts=all		hmmpanther:PTHR24137,hmmpanther:PTHR24137:SF1		G/W		T	medium	900/1507		getma.org/?cm=msa&ty=f&p=ANR33_HUMAN&rb=107&re=272&var=G177W	deleterious(0)	Q0VAA8_HUMAN				ANKRD33,missense_variant,p.Gly302Trp,ENST00000301190,NM_001130015.1,NM_182608.3;ANKRD33,missense_variant,p.Gly177Trp,ENST00000340970,;ANKRD33,missense_variant,p.Gly108Trp,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,;							MODERATE	529/819	G177W	ANR33_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000344690		CCDS44892.1			1	
TBP	0	LGGM	GRCh37	6	170871146	170871146	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	32	3	.	.	ENST00000392092.2:c.322C>A	p.Gln108Lys	p.Q108K	ENST00000392092	NM_003194.4	108	Cag/Aag	0	1		UPI0000136C3F	0	NA	ENST00000230354		ENSG00000112592	11588		35	0.805		HGNC	p.Q88K		TBP		SNV			1				ENST00000540980	protein_coding	getma.org/?cm=var&var=hg19,6,170871146,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10126:SF15,hmmpanther:PTHR10126		Q/K		A	low	558/1861		getma.org/?cm=msa&ty=f&p=TBP_HUMAN&rb=51&re=129&var=Q108K	tolerated_low_confidence(0.88)	Q7Z6S5_HUMAN,Q7Z6S4_HUMAN,Q32MN7_HUMAN,D2CT66_HUMAN,D2CT65_HUMAN,D2CT64_HUMAN,D2CT63_HUMAN,C0LUL1_HUMAN,B4DPC1_HUMAN				TBP,missense_variant,p.Gln108Lys,ENST00000392092,NM_003194.4;TBP,missense_variant,p.Gln108Lys,ENST00000230354,;TBP,missense_variant,p.Gln88Lys,ENST00000540980,NM_001172085.1;TBP,missense_variant,p.Gln108Lys,ENST00000421512,;TBP,missense_variant,p.Gln108Lys,ENST00000423353,;							MODERATE	322/1020	Q108K	TBP_HUMAN			Transcript		unknown(0)	.	ENSP00000230354		CCDS5315.1			1	
FAM84A	0	LGGM	GRCh37	2	14774165	14774165	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	13	3	.	.	ENST00000295092.2:c.62C>T	p.Pro21Leu	p.P21L	ENST00000295092	NM_145175.2	21	cCg/cTg	0	1	1	UPI000013E203	0	NA	ENST00000295092		ENSG00000162981	20743		16	1.665		HGNC	p.P21L		FAM84A		SNV							ENST00000295092	protein_coding	getma.org/?cm=var&var=hg19,2,14774165,C,T&fts=all		hmmpanther:PTHR13943,hmmpanther:PTHR13943:SF38		P/L		T	low	350/6355		getma.org/?cm=msa&ty=f&p=FA84A_HUMAN&rb=1&re=113&var=P21L	deleterious(0)				YES	FAM84A,missense_variant,p.Pro21Leu,ENST00000295092,NM_145175.2;FAM84A,missense_variant,p.Pro21Leu,ENST00000331243,;AC011897.1,upstream_gene_variant,,ENST00000581929,;AC011897.2,downstream_gene_variant,,ENST00000450715,;AC011897.2,downstream_gene_variant,,ENST00000418481,;FAM84A,upstream_gene_variant,,ENST00000497769,;FAM84A,upstream_gene_variant,,ENST00000464947,;							MODERATE	62/879	P21L	FA84A_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000295092		CCDS1684.1			1	
CCDC158	0	LGGM	GRCh37	4	77288636	77288636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	34	3	.	.	ENST00000388914.3:c.1641G>T	p.Gln547His	p.Q547H	ENST00000388914	NM_001042784.1	547	caG/caT	0	1	1	UPI00004DF23B	0	NA	ENST00000388914		ENSG00000163749	26374		37	0.205		HGNC	p.Q547H		CCDC158		SNV							ENST00000388914	protein_coding	getma.org/?cm=var&var=hg19,4,77288636,C,A&fts=all		hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140		Q/H		A	neutral	1794/3663		getma.org/?cm=msa&ty=f&p=CD158_HUMAN&rb=251&re=1111&var=Q547H	deleterious(0)				YES	CCDC158,missense_variant,p.Gln547His,ENST00000388914,NM_001042784.1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;							MODERATE	1641/3342	Q547H	CD158_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000373566		CCDS43242.1			1	
AMFR	0	LGGM	GRCh37	16	56437016	56437016	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	31	3	.	.	ENST00000290649.5:c.855C>A	p.Ile285=	p.I285=	ENST00000290649	NM_001144.5	285	atC/atA	0	1	1	UPI000013EDCA	0		ENST00000290649		ENSG00000159461	463		34			HGNC	p.I190I		AMFR		SNV							ENST00000565445	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF70		I		T		1066/3600				Q6PGR1_HUMAN,Q1RN03_HUMAN,H3BSK3_HUMAN,H3BQM3_HUMAN			YES	AMFR,missense_variant,p.Ser5Tyr,ENST00000492830,;AMFR,synonymous_variant,p.=,ENST00000290649,NM_001144.5;AMFR,synonymous_variant,p.=,ENST00000565445,;AMFR,upstream_gene_variant,,ENST00000567738,;AMFR,downstream_gene_variant,,ENST00000563664,;AMFR,downstream_gene_variant,,ENST00000568657,;AMFR,upstream_gene_variant,,ENST00000568762,;							LOW	855/1932		AMFR_HUMAN			Transcript			.	ENSP00000290649		CCDS10758.1			1	
TEKT3	0	LGGM	GRCh37	17	15234588	15234588	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	33	3	.	.	ENST00000395930.1:c.315C>A	p.Thr105=	p.T105=	ENST00000395930	NM_031898.2	105	acC/acA	0	1		UPI0000136BAB	0		ENST00000338696		ENSG00000125409	14293		36			HGNC	p.T105T	COSM401682	TEKT3		SNV						1	ENST00000536146	protein_coding			hmmpanther:PTHR19960,hmmpanther:PTHR19960:SF24,Pfam_domain:PF03148		T		T		414/1694				F5H5M8_HUMAN,F5H4K1_HUMAN,F5H115_HUMAN,F5GZV8_HUMAN				TEKT3,synonymous_variant,p.=,ENST00000395930,NM_031898.2;TEKT3,synonymous_variant,p.=,ENST00000338696,;TEKT3,synonymous_variant,p.=,ENST00000536146,;TEKT3,synonymous_variant,p.=,ENST00000539316,;TEKT3,5_prime_UTR_variant,,ENST00000539245,;TEKT3,downstream_gene_variant,,ENST00000543896,;TEKT3,synonymous_variant,p.=,ENST00000395931,;TEKT3,non_coding_transcript_exon_variant,,ENST00000470325,;					1		LOW	315/1473		TEKT3_HUMAN			Transcript			.	ENSP00000343995		CCDS11169.1			1	
LOXHD1	0	LGGM	GRCh37	18	44057548	44057548	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	5	3	.	.	ENST00000300591.6:c.3307+69G>A		*1103*	ENST00000300591	NM_001145472.2			0	1	1	UPI0000456B8D	0	getma.org/pdb.php?prot=B7Z7T7_HUMAN&from=1027&to=1137&var=V1108M	ENST00000300591		ENSG00000167210	26521		8	3.145		HGNC	p.V476M		LOXHD1		SNV			1				ENST00000398686	protein_coding	getma.org/?cm=var&var=hg19,18,44057548,C,T&fts=all						T	medium	-/3970		getma.org/?cm=msa&ty=f&p=B7Z7T7_HUMAN&rb=1027&re=1137&var=V1108M		C9J269_HUMAN,C9IYQ1_HUMAN			YES	LOXHD1,missense_variant,p.Val2175Met,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Val2031Met,ENST00000441551,;LOXHD1,missense_variant,p.Val1064Met,ENST00000582408,;LOXHD1,missense_variant,p.Val1108Met,ENST00000441893,;LOXHD1,missense_variant,p.Val476Met,ENST00000398686,NM_001145473.2;LOXHD1,intron_variant,,ENST00000398722,;LOXHD1,intron_variant,,ENST00000300591,NM_001145472.2;LOXHD1,intron_variant,,ENST00000579038,;LOXHD1,intron_variant,,ENST00000398705,NM_001173129.1;							MODIFIER	-/3345	V1108M	LOXH1_HUMAN			Transcript			.	ENSP00000300591		CCDS45861.1			1	
SMPDL3B	0	LGGM	GRCh37	1	28268835	28268836	+	intron_variant	Intron	INS	-	-	C	novel	by Submitter	H093892	H093892N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	3	3	.	.	ENST00000373894.3:c.62-2908_62-2907insC		*21*	ENST00000373894	NM_014474.2			0	1	1	UPI00004700F5	0		ENST00000373894		ENSG00000130768	21416		6			HGNC	p.P37fs		SMPDL3B		insertion							ENST00000411604	protein_coding							C		-/1878				B4DEC6_HUMAN			YES	SMPDL3B,frameshift_variant,p.Thr38HisfsTer21,ENST00000411604,;SMPDL3B,intron_variant,,ENST00000373894,NM_014474.2;SMPDL3B,intron_variant,,ENST00000549094,;SMPDL3B,intron_variant,,ENST00000373888,NM_001009568.1;RP11-460I13.2,intron_variant,,ENST00000448015,;SMPDL3B,non_coding_transcript_exon_variant,,ENST00000466793,;SMPDL3B,intron_variant,,ENST00000548116,;							MODIFIER	-/1368		ASM3B_HUMAN			Transcript			.	ENSP00000363001		CCDS30655.1			1	
USP17L22	0	LGGM	GRCh37	4	9270254	9270254	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	41	3	.	.	ENST00000511280.1:c.910C>T	p.Gln304Ter	p.Q304*	ENST00000511280	NM_001256863.1	304	Cag/Tag	0	1	1	UPI0000185F06	0	NA	ENST00000511280		ENSG00000248933	44450		44	0		HGNC	p.Q304X		USP17L22		SNV							ENST00000511280	protein_coding	getma.org/?cm=var&var=hg19,4,9270254,C,T&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF382,hmmpanther:PTHR24006,Pfam_domain:PF00443,Superfamily_domains:SSF54001		Q/*		T	NA	910/1593		NA					YES	USP17L22,stop_gained,p.Gln304Ter,ENST00000511280,NM_001256863.1;USP17L21,downstream_gene_variant,,ENST00000506414,NM_001256862.1;USP17L23,upstream_gene_variant,,ENST00000506619,;							HIGH	910/1593	Q304*	U17LM_HUMAN			Transcript			.	ENSP00000423115		CCDS59463.1			1	
TTR	0	LGGM	GRCh37	18	29178553	29178553	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	8	4	.	.	ENST00000237014.3:c.359C>T	p.Ser120Phe	p.S120F	ENST00000237014	NM_000371.3	120	tCc/tTc	0	1	1	UPI00000002B4	0	getma.org/pdb.php?prot=TTHY_HUMAN&from=30&to=141&var=S120F	ENST00000237014		ENSG00000118271	12405		12	2.67		HGNC	p.S120F		TTR		SNV			1				ENST00000237014	protein_coding	getma.org/?cm=var&var=hg19,18,29178553,C,T&fts=all		Superfamily_domains:SSF49472,SMART_domains:SM00095,Pfam_domain:PF00576,Gene3D:2.60.40.180,hmmpanther:PTHR10395:SF12,hmmpanther:PTHR10395		S/F		T	medium	536/957		getma.org/?cm=msa&ty=f&p=TTHY_HUMAN&rb=30&re=141&var=S120F	tolerated(0.08)	E9KL36_HUMAN,A6XMH1_HUMAN			YES	TTR,missense_variant,p.Ser120Phe,ENST00000237014,NM_000371.3;TTR,downstream_gene_variant,,ENST00000541025,;							MODERATE	359/444	S120F	TTHY_HUMAN			Transcript		benign(0.406)	.	ENSP00000237014		CCDS11899.1			1	
YWHAZ	0	LGGM	GRCh37	8	101936241	101936241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	92	4	.	.	ENST00000395957.2:c.620G>T	p.Ser207Ile	p.S207I	ENST00000395957		207	aGt/aTt	0	1		UPI000003300D	0	getma.org/pdb.php?prot=1433Z_HUMAN&from=3&to=236&var=S207I	ENST00000353245		ENSG00000164924	12855		96	2.66		HGNC	p.S87I		YWHAZ		SNV							ENST00000521309	protein_coding	getma.org/?cm=var&var=hg19,8,101936241,C,A&fts=all		hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF5,Gene3D:3iquA00,Pfam_domain:PF00244,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Superfamily_domains:SSF48445,Prints_domain:PR00305		S/I		A	medium	704/2829		getma.org/?cm=msa&ty=f&p=1433Z_HUMAN&rb=3&re=236&var=S207I	deleterious_low_confidence(0)	Q6LD62_HUMAN,Q2F831_HUMAN,H0YB80_HUMAN,E9PD24_HUMAN,E7EVZ2_HUMAN,E7ESK7_HUMAN,E5RIR4_HUMAN,E5RGE1_HUMAN,D0PNI1_HUMAN,B7Z2E6_HUMAN,B0AZS6_HUMAN				YWHAZ,missense_variant,p.Ser207Ile,ENST00000395957,;YWHAZ,missense_variant,p.Ser207Ile,ENST00000395958,NM_145690.2;YWHAZ,missense_variant,p.Ser207Ile,ENST00000457309,NM_001135699.1;YWHAZ,missense_variant,p.Ser207Ile,ENST00000395956,NM_001135701.1,NM_001135700.1;YWHAZ,missense_variant,p.Ser207Ile,ENST00000353245,NM_003406.3;YWHAZ,missense_variant,p.Ser87Ile,ENST00000521309,;YWHAZ,missense_variant,p.Ser132Ile,ENST00000522542,;YWHAZ,missense_variant,p.Ser207Ile,ENST00000395953,;YWHAZ,missense_variant,p.Ser207Ile,ENST00000395951,NM_001135702.1;YWHAZ,missense_variant,p.Ser207Ile,ENST00000419477,;YWHAZ,missense_variant,p.Ser87Ile,ENST00000522819,;YWHAZ,missense_variant,p.Ser130Ile,ENST00000395948,;YWHAZ,missense_variant,p.Ser215Ile,ENST00000521607,;YWHAZ,downstream_gene_variant,,ENST00000521328,;YWHAZ,missense_variant,p.Ser92Ile,ENST00000523848,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000480304,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000518736,;YWHAZ,non_coding_transcript_exon_variant,,ENST00000517727,;							MODERATE	620/738	S207I	1433Z_HUMAN			Transcript		benign(0.406)	.	ENSP00000309503		CCDS6290.1			1	
PAQR4	0	LGGM	GRCh37	16	3021319	3021319	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	13	5	.	.	ENST00000318782.8:c.328G>T	p.Ala110Ser	p.A110S	ENST00000318782	NM_152341.3	110	Gct/Tct	0	1	1	UPI0000072F38	0	NA	ENST00000318782		ENSG00000162073	26386		18	-0.28		HGNC	p.A43S		PAQR4		SNV							ENST00000576565	protein_coding	getma.org/?cm=var&var=hg19,16,3021319,G,T&fts=all		Pfam_domain:PF03006,hmmpanther:PTHR20855,hmmpanther:PTHR20855:SF30,Transmembrane_helices:TMhelix		A/S		T	neutral	758/2793		getma.org/?cm=msa&ty=f&p=PAQR4_HUMAN&rb=43&re=254&var=A110S	tolerated(0.46)	I3L1A2_HUMAN			YES	PAQR4,missense_variant,p.Ala110Ser,ENST00000318782,NM_152341.3,NM_001284513.1;PAQR4,missense_variant,p.Ala71Ser,ENST00000293978,NM_001284511.1;PAQR4,missense_variant,p.Ala43Ser,ENST00000574988,;PAQR4,missense_variant,p.Ala43Ser,ENST00000576565,;PKMYT1,intron_variant,,ENST00000431515,;PAQR4,intron_variant,,ENST00000572687,NM_001284512.1;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,;							MODERATE	328/822	A110S	PAQR4_HUMAN			Transcript		benign(0.031)	.	ENSP00000321804		CCDS10485.1			1	
EPN1	0	LGGM	GRCh37	19	56200726	56200726	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	23	5	.	.	ENST00000411543.2:c.936+366G>T		*312*	ENST00000411543	NM_001130071.1			0	1		UPI000007050F	0	NA	ENST00000270460		ENSG00000063245	21604		28	0		HGNC	p.E223X		EPN1		SNV							ENST00000270460	protein_coding	getma.org/?cm=var&var=hg19,19,56200726,G,T&fts=all		PROSITE_profiles:PS50330,hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF48,Pfam_domain:PF02809,SMART_domains:SM00726		E/*		T	NA	978/2452		NA		B4DU91_HUMAN				EPN1,stop_gained,p.Glu223Ter,ENST00000270460,NM_001130072.1;EPN1,intron_variant,,ENST00000411543,NM_001130071.1;EPN1,intron_variant,,ENST00000085079,NM_013333.3;EPN1,upstream_gene_variant,,ENST00000589704,;AC010525.2,downstream_gene_variant,,ENST00000390145,;AC010525.4,downstream_gene_variant,,ENST00000585559,;EPN1,non_coding_transcript_exon_variant,,ENST00000591743,;EPN1,upstream_gene_variant,,ENST00000586194,;							HIGH	667/1731	E223*	EPN1_HUMAN			Transcript			.	ENSP00000270460		CCDS46199.1			1	
GPR162	0	LGGM	GRCh37	12	6933822	6933822	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	22	5	.	.	ENST00000311268.3:c.758G>A	p.Arg253Gln	p.R253Q	ENST00000311268	NM_019858.1	253	cGg/cAg	0	1	1	UPI000005046E	0	NA	ENST00000311268		ENSG00000250510	16693		27	1.1		HGNC	p.R253Q		GPR162		SNV							ENST00000311268	protein_coding	getma.org/?cm=var&var=hg19,12,6933822,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF6,Superfamily_domains:SSF81321		R/Q		A	low	1545/2768		getma.org/?cm=msa&ty=f&p=GP162_HUMAN&rb=30&re=323&var=R253Q	deleterious(0.03)	J3KPJ9_HUMAN			YES	GPR162,missense_variant,p.Arg253Gln,ENST00000311268,NM_019858.1;GPR162,missense_variant,p.Arg55Gln,ENST00000545321,;GPR162,intron_variant,,ENST00000428545,NM_014449.1;GPR162,intron_variant,,ENST00000382315,;CD4,downstream_gene_variant,,ENST00000011653,NM_000616.4,NM_001195017.2,NM_001195016.2,NM_001195015.2;LEPREL2,upstream_gene_variant,,ENST00000251761,NM_014262.3;LEPREL2,upstream_gene_variant,,ENST00000396725,;GPR162,downstream_gene_variant,,ENST00000541431,;GPR162,upstream_gene_variant,,ENST00000542330,;LEPREL2,upstream_gene_variant,,ENST00000544813,;GPR162,non_coding_transcript_exon_variant,,ENST00000535220,;LEPREL2,upstream_gene_variant,,ENST00000536140,;CD4,downstream_gene_variant,,ENST00000437800,;LEPREL2,upstream_gene_variant,,ENST00000606935,;							MODERATE	758/1767	R253Q	GP162_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000311528		CCDS8563.1			1	
RET	0	LGGM	GRCh37	10	43604533	43604533	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	21	5	.	.	ENST00000355710.3:c.1118C>T	p.Ala373Val	p.A373V	ENST00000355710	NM_020975.4	373	gCg/gTg	0	1	1	UPI00001336E1	0	NA	ENST00000355710	likely_benign	ENSG00000165731	9967	8.66E-05	26	1.61		HGNC	p.A373V	rs546866208,COSM267328,COSM3686740	RET	0.00479	SNV			1			1,1,1	ENST00000340058	protein_coding	getma.org/?cm=var&var=hg19,10,43604533,C,T&fts=all	T:0	PIRSF_domain:PIRSF000631,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416		A/V		T	low	1350/5659	7.55E-05	getma.org/?cm=msa&ty=f&p=RET_HUMAN&rb=263&re=462&var=A373V	tolerated(0.35)	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN	T:0	T:0	YES	RET,missense_variant,p.Ala373Val,ENST00000355710,NM_020975.4;RET,missense_variant,p.Ala373Val,ENST00000340058,NM_020630.4;RET,intron_variant,,ENST00000498820,;RET,downstream_gene_variant,,ENST00000479913,;	0.000116	T:0.0008			0,1,1		MODERATE	1118/3345	A373V	RET_HUMAN		T:0	Transcript		benign(0.002)	common_variant	ENSP00000347942	0.000725	CCDS7200.1	0.00222	T:0.0041	1	
C12orf50	0	LGGM	GRCh37	12	88391956	88391956	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	17	5	.	.	ENST00000298699.2:c.145C>G	p.Gln49Glu	p.Q49E	ENST00000298699	NM_152589.1	49	Cag/Gag	0	1	1	UPI0000071382	0	NA	ENST00000298699		ENSG00000165805	26665		22	1.1		HGNC	p.Q103E		C12orf50		SNV							ENST00000551944	protein_coding	getma.org/?cm=var&var=hg19,12,88391956,G,C&fts=all		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF1		Q/E		C	low	326/1718		getma.org/?cm=msa&ty=f&p=CL050_HUMAN&rb=1&re=86&var=Q49E	deleterious(0.04)	F8VXH4_HUMAN			YES	C12orf50,missense_variant,p.Gln49Glu,ENST00000298699,NM_152589.1;C12orf50,missense_variant,p.Gln49Glu,ENST00000550553,;C12orf50,missense_variant,p.Gln49Glu,ENST00000551163,;C12orf50,non_coding_transcript_exon_variant,,ENST00000551944,;							MODERATE	145/1245	Q49E	CL050_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000298699		CCDS9031.1			1	
OBSCN	0	LGGM	GRCh37	1	228562082	228562082	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	4	6	.	.	ENST00000570156.2:c.25323C>A	p.Cys8441Ter	p.C8441*	ENST00000570156	NM_001271223.2	8441	tgC/tgA	0	1		UPI0001838884	0	NA	ENST00000422127		ENSG00000154358	15719		10	0		HGNC	p.C8196X		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228562082,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,SMART_domains:SM00406,Superfamily_domains:SSF48726		C/*		A	NA	22496/24030		NA						OBSCN,stop_gained,p.Cys8441Ter,ENST00000570156,NM_001271223.2;OBSCN,stop_gained,p.Cys5118Ter,ENST00000366707,;OBSCN,stop_gained,p.Cys7484Ter,ENST00000422127,NM_001098623.2;OBSCN,stop_gained,p.Cys2101Ter,ENST00000441106,;							HIGH	22452/23907	C7484*	OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
AP2A2	0	LGGM	GRCh37	11	994226	994226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	20	7	.	.	ENST00000448903.2:c.1937C>T	p.Pro646Leu	p.P646L	ENST00000448903	NM_012305.3	646	cCa/cTa	0	1	1	UPI0000124FF5	0	NA	ENST00000448903		ENSG00000183020	562		27	1.91		HGNC	p.P647L		AP2A2		SNV							ENST00000332231	protein_coding	getma.org/?cm=var&var=hg19,11,994226,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,PIRSF_domain:PIRSF037091		P/L		T	medium	2078/4575		getma.org/?cm=msa&ty=f&p=AP2A2_HUMAN&rb=591&re=712&var=P646L	tolerated(0.21)	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN			YES	AP2A2,missense_variant,p.Pro646Leu,ENST00000448903,NM_012305.3,NM_001242837.1;AP2A2,missense_variant,p.Pro647Leu,ENST00000332231,;AP2A2,intron_variant,,ENST00000534328,;AP2A2,non_coding_transcript_exon_variant,,ENST00000528195,;AP2A2,upstream_gene_variant,,ENST00000525891,;AP2A2,missense_variant,p.Pro647Leu,ENST00000528815,;							MODERATE	1937/2820	P646L	AP2A2_HUMAN			Transcript		benign(0.001)	.	ENSP00000413234		CCDS44512.1			1	
CNTN6	0	LGGM	GRCh37	3	1414145	1414145	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	38	7	.	.	ENST00000446702.2:c.1655A>C	p.Glu552Ala	p.E552A	ENST00000446702		552	gAa/gCa	0	1		UPI0000072430	0	getma.org/pdb.php?prot=CNTN6_HUMAN&from=500&to=594&var=E552A	ENST00000350110		ENSG00000134115	2176		45	2.155		HGNC	p.E552A		CNTN6		SNV							ENST00000350110	protein_coding	getma.org/?cm=var&var=hg19,3,1414145,A,C&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50835		E/A		C	medium	2206/3814		getma.org/?cm=msa&ty=f&p=CNTN6_HUMAN&rb=500&re=594&var=E552A	deleterious(0)	F5H752_HUMAN				CNTN6,missense_variant,p.Glu552Ala,ENST00000446702,;CNTN6,missense_variant,p.Glu552Ala,ENST00000350110,NM_014461.2;CNTN6,missense_variant,p.Glu480Ala,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;							MODERATE	1655/3087	E552A	CNTN6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000341882		CCDS2557.1			1	
HIRA	0	LGGM	GRCh37	22	19385585	19385585	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	10	8	.	.	ENST00000263208.5:c.423C>T	p.Pro141=	p.P141=	ENST00000263208	NM_003325.3	141	ccC/ccT	0	1	1	UPI0000074373	0		ENST00000263208		ENSG00000100084	4916		18			HGNC	p.P141P		HIRA		SNV			1				ENST00000340170	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR13831,hmmpanther:PTHR13831:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978		P		A		680/4053				F5H4M2_HUMAN			YES	HIRA,synonymous_variant,p.=,ENST00000263208,NM_003325.3;HIRA,synonymous_variant,p.=,ENST00000541063,;HIRA,synonymous_variant,p.=,ENST00000340170,;HIRA,synonymous_variant,p.=,ENST00000546308,;HIRA,non_coding_transcript_exon_variant,,ENST00000464189,;C22orf39,3_prime_UTR_variant,,ENST00000509549,;HIRA,downstream_gene_variant,,ENST00000452818,;							LOW	423/3054		HIRA_HUMAN			Transcript			.	ENSP00000263208		CCDS13759.1			1	
MACC1	0	LGGM	GRCh37	7	20199702	20199702	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	26	8	.	.	ENST00000400331.5:c.282C>A	p.Ser94=	p.S94=	ENST00000400331	NM_182762.3	94	tcC/tcA	0	1		UPI00001B2F47	0		ENST00000332878		ENSG00000183742	30215		34			HGNC	p.S94S		MACC1		SNV							ENST00000332878	protein_coding			hmmpanther:PTHR15603,hmmpanther:PTHR15603:SF1		S		T		396/2994								MACC1,synonymous_variant,p.=,ENST00000400331,NM_182762.3;MACC1,synonymous_variant,p.=,ENST00000332878,;MACC1,synonymous_variant,p.=,ENST00000589011,;MACC1,downstream_gene_variant,,ENST00000471019,;							LOW	282/2559		MACC1_HUMAN			Transcript			.	ENSP00000328410		CCDS5369.1			1	
TMEM208	0	LGGM	GRCh37	16	67261789	67261789	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	17	8	.	.	ENST00000304800.9:c.57C>G	p.Asn19Lys	p.N19K	ENST00000304800	NM_014187.3	19	aaC/aaG	0	1	1	UPI000006D32F	0	NA	ENST00000304800		ENSG00000168701	25015		25	3.015		HGNC	p.N19K		TMEM208		SNV							ENST00000565201	protein_coding	getma.org/?cm=var&var=hg19,16,67261789,C,G&fts=all		Pfam_domain:PF05620,hmmpanther:PTHR13505,hmmpanther:PTHR13505:SF7		N/K		G	medium	163/793		getma.org/?cm=msa&ty=f&p=TM208_HUMAN&rb=7&re=171&var=N19K	deleterious(0)	J3KRY7_HUMAN			YES	TMEM208,missense_variant,p.Asn19Lys,ENST00000565201,;TMEM208,missense_variant,p.Asn19Lys,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.Asn19Lys,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,;							MODERATE	57/522	N19K	TM208_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000305892		CCDS45511.1			1	
PCDHA7	0	LGGM	GRCh37	5	140215960	140215960	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	13	9	.	.	ENST00000525929.1:c.1992C>A	p.Thr664=	p.T664=	ENST00000525929	NM_018910.2	664	acC/acA	0	1	1	UPI00001273CF	0		ENST00000525929		ENSG00000204963	8673		22			HGNC	p.T664T		PCDHA7		SNV							ENST00000378125	protein_coding			Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268		T		A		1992/5221							YES	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,;PCDHA8,upstream_gene_variant,,ENST00000531613,NM_018911.2;PCDHA8,upstream_gene_variant,,ENST00000378123,NM_031856.1;							LOW	1992/2814		PCDA7_HUMAN			Transcript			.	ENSP00000436426		CCDS54918.1			1	
STX16	0	LGGM	GRCh37	20	57242352	57242352	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	36	9	.	.	ENST00000371141.4:c.145-194T>A		*49*	ENST00000371141	NM_001001433.2			0	1	1	UPI0000376BCD	0		ENST00000371141		ENSG00000124222	11431		45			HGNC	p.S30T		STX16		SNV			1				ENST00000361770	protein_coding							A		-/4937				F8W9Z6_HUMAN,B7ZBM5_HUMAN,B7ZBM4_HUMAN,B4DJX9_HUMAN			YES	STX16,missense_variant,p.Ser30Thr,ENST00000361770,;STX16,intron_variant,,ENST00000371141,NM_001001433.2;STX16,intron_variant,,ENST00000355957,NM_001134773.2;STX16,intron_variant,,ENST00000371132,NM_001134772.2,NM_003763.5;STX16,intron_variant,,ENST00000358029,;STX16,intron_variant,,ENST00000359617,NM_001204868.1;STX16,intron_variant,,ENST00000361830,;STX16,intron_variant,,ENST00000312283,;STX16,intron_variant,,ENST00000412911,;STX16,intron_variant,,ENST00000458280,;STX16,upstream_gene_variant,,ENST00000438253,;STX16,intron_variant,,ENST00000496003,;STX16,intron_variant,,ENST00000468590,;STX16,intron_variant,,ENST00000490700,;STX16,intron_variant,,ENST00000496117,;STX16,5_prime_UTR_variant,,ENST00000476384,;STX16-NPEPL1,intron_variant,,ENST00000530122,;STX16,intron_variant,,ENST00000467096,;STX16,intron_variant,,ENST00000483434,;STX16,intron_variant,,ENST00000464640,;STX16,intron_variant,,ENST00000493301,;STX16,intron_variant,,ENST00000460655,;							MODIFIER	-/978		STX16_HUMAN			Transcript			.	ENSP00000360183		CCDS13468.1			1	
HNF1B	0	LGGM	GRCh37	17	36091723	36091723	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	24	10	.	.	ENST00000225893.4:c.908G>A	p.Arg303His	p.R303H	ENST00000225893	NM_001165923.1	303	cGc/cAc	0	1	1	UPI000012CA96	0	getma.org/pdb.php?prot=HNF1B_HUMAN&from=232&to=307&var=R303H	ENST00000225893		ENSG00000108753	11630		34	2.565		HGNC	p.R303H		HNF1B		SNV			1				ENST00000560016	protein_coding	getma.org/?cm=var&var=hg19,17,36091723,C,T&fts=all		PROSITE_profiles:PS50071,hmmpanther:PTHR11568,hmmpanther:PTHR11568:SF2,Gene3D:1.10.10.60,Pfam_domain:PF00046,SMART_domains:SM00389,Superfamily_domains:SSF46689		R/H		T	medium	1270/2976		getma.org/?cm=msa&ty=f&p=HNF1B_HUMAN&rb=232&re=307&var=R303H	deleterious(0)	Q6FHW6_HUMAN			YES	HNF1B,missense_variant,p.Arg303His,ENST00000225893,NM_001165923.1,NM_000458.2;HNF1B,missense_variant,p.Arg277His,ENST00000561193,;HNF1B,missense_variant,p.Arg303His,ENST00000560016,;HNF1B,missense_variant,p.Arg277His,ENST00000427275,;HNF1B,non_coding_transcript_exon_variant,,ENST00000459669,;							MODERATE	908/1674	R303H	HNF1B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000225893		CCDS11324.1			1	
SLC25A13	0	LGGM	GRCh37	7	95761089	95761089	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	21	10	.	.	ENST00000416240.2:c.1560C>T	p.Ser520=	p.S520=	ENST00000416240	NM_014251.2	520	agC/agT	0	1		UPI0000127BC3	0		ENST00000265631		ENSG00000004864	10983		31			HGNC	p.S519S		SLC25A13		SNV			1				ENST00000265631	protein_coding			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF265		S		A		1694/3136				Q75KX8_HUMAN				SLC25A13,synonymous_variant,p.=,ENST00000416240,NM_014251.2,NM_001160210.1;SLC25A13,synonymous_variant,p.=,ENST00000265631,;SLC25A13,synonymous_variant,p.=,ENST00000542654,;							LOW	1557/2028		CMC2_HUMAN			Transcript			.	ENSP00000265631		CCDS5645.1			1	
MAGT1	0	LGGM	GRCh37	X	77109403	77109403	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	21	10	.	.	ENST00000358075.6:c.917T>C	p.Leu306Pro	p.L306P	ENST00000358075	NM_032121.5	306	cTg/cCg	0	1	1	UPI0001881372	0	NA	ENST00000358075		ENSG00000102158	28880		31	2.135		HGNC	p.L306P		MAGT1		SNV			1				ENST00000358075	protein_coding	getma.org/?cm=var&var=hg19,X,77109403,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12692,hmmpanther:PTHR12692:SF2,Pfam_domain:PF04756		L/P		G	medium	1004/4047		getma.org/?cm=msa&ty=f&p=MAGT1_HUMAN&rb=165&re=319&var=L274P	deleterious(0.01)	Q96SP2_HUMAN			YES	MAGT1,missense_variant,p.Leu306Pro,ENST00000358075,NM_032121.5;MAGT1,downstream_gene_variant,,ENST00000476168,;							MODERATE	917/1104	L274P	MAGT1_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000354649		CCDS14436.2			1	
DCUN1D4	0	LGGM	GRCh37	4	52779523	52779523	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	14	11	.	.	ENST00000334635.5:c.788A>G	p.Asn263Ser	p.N263S	ENST00000334635	NM_001040402.1	263	aAt/aGt	0	1	1	UPI00001C1E10	0	getma.org/pdb.php?prot=DCNL4_HUMAN&from=173&to=287&var=N263S	ENST00000334635		ENSG00000109184	28998		25	0.77		HGNC	p.N228S		DCUN1D4		SNV							ENST00000381441	protein_coding	getma.org/?cm=var&var=hg19,4,52779523,A,G&fts=all		Pfam_domain:PF03556,PROSITE_profiles:PS51229,hmmpanther:PTHR12281,hmmpanther:PTHR12281:SF8		N/S		G	neutral	968/4312		getma.org/?cm=msa&ty=f&p=DCNL4_HUMAN&rb=173&re=287&var=N263S	tolerated(1)	B4DH26_HUMAN			YES	DCUN1D4,missense_variant,p.Asn263Ser,ENST00000334635,NM_001040402.1,NM_001287757.1,NM_001287755.1;DCUN1D4,missense_variant,p.Asn228Ser,ENST00000381441,NM_015115.2;DCUN1D4,missense_variant,p.Asn203Ser,ENST00000381437,;DCUN1D4,missense_variant,p.Asn307Ser,ENST00000451288,;DCUN1D4,missense_variant,p.Asn73Ser,ENST00000510808,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000508257,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000507659,;DCUN1D4,downstream_gene_variant,,ENST00000510587,;DCUN1D4,3_prime_UTR_variant,,ENST00000477560,;DCUN1D4,3_prime_UTR_variant,,ENST00000509376,;DCUN1D4,3_prime_UTR_variant,,ENST00000507741,;DCUN1D4,3_prime_UTR_variant,,ENST00000505634,;DCUN1D4,3_prime_UTR_variant,,ENST00000512199,;DCUN1D4,non_coding_transcript_exon_variant,,ENST00000510518,;							MODERATE	788/879	N263S	DCNL4_HUMAN			Transcript		benign(0.009)	.	ENSP00000334625		CCDS33982.1			1	
PPP1R26	0	LGGM	GRCh37	9	138376495	138376495	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	7	12	.	.	ENST00000356818.2:c.139G>A	p.Val47Met	p.V47M	ENST00000356818	NM_014811.3	47	Gtg/Atg	0	1	1	UPI000013DB17	0	NA	ENST00000356818		ENSG00000196422	29089		19	1.445		HGNC	p.V47M		PPP1R26		SNV							ENST00000401470	protein_coding	getma.org/?cm=var&var=hg19,9,138376495,G,A&fts=all		hmmpanther:PTHR15724		V/M		A	low	688/4932		getma.org/?cm=msa&ty=f&p=PPR26_HUMAN&rb=1&re=200&var=V47M	deleterious(0.04)	Q5T8A6_HUMAN			YES	PPP1R26,missense_variant,p.Val47Met,ENST00000356818,NM_014811.3;PPP1R26,missense_variant,p.Val47Met,ENST00000401470,;PPP1R26,missense_variant,p.Val47Met,ENST00000605286,;PPP1R26,missense_variant,p.Val47Met,ENST00000604351,;PPP1R26,missense_variant,p.Val47Met,ENST00000605660,;PPP1R26-AS1,upstream_gene_variant,,ENST00000455039,;PPP1R26-AS1,upstream_gene_variant,,ENST00000603893,;PPP1R26-AS1,upstream_gene_variant,,ENST00000605260,;PPP1R26,intron_variant,,ENST00000602993,;							MODERATE	139/3630	V47M	PPR26_HUMAN			Transcript		benign(0.011)	.	ENSP00000349274		CCDS6988.1			1	
GSE1	0	LGGM	GRCh37	16	85706080	85706080	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	11	12	.	.	ENST00000253458.7:c.3589C>T	p.Arg1197Ter	p.R1197*	ENST00000253458	NM_014615.3	1197	Cga/Tga	0	1	1	UPI0000185F04	0	NA	ENST00000253458		ENSG00000131149	28979		23	0		HGNC	p.R1093X		GSE1		SNV							ENST00000405402	protein_coding	getma.org/?cm=var&var=hg19,16,85706080,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR17608,hmmpanther:PTHR17608:SF3		R/*		T	NA	3765/7495		NA		C9JLW9_HUMAN			YES	GSE1,stop_gained,p.Arg1197Ter,ENST00000253458,NM_014615.3;GSE1,stop_gained,p.Arg1124Ter,ENST00000393243,NM_001278184.1;GSE1,stop_gained,p.Arg966Ter,ENST00000412692,;GSE1,stop_gained,p.Arg1093Ter,ENST00000405402,NM_001134473.2;GSE1,3_prime_UTR_variant,,ENST00000438180,;GINS2,downstream_gene_variant,,ENST00000253462,NM_016095.2;GSE1,non_coding_transcript_exon_variant,,ENST00000471070,;GSE1,non_coding_transcript_exon_variant,,ENST00000469381,;GSE1,non_coding_transcript_exon_variant,,ENST00000496345,;							HIGH	3589/3654	R1197*	GSE1_HUMAN			Transcript			.	ENSP00000253458		CCDS10952.1			1	
CXCL2	0	LGGM	GRCh37	4	74964794	74964794	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	1	13	.	.	ENST00000508487.2:c.44T>A	p.Leu15His	p.L15H	ENST00000508487	NM_002089.3	15	cTc/cAc	0	1	1	UPI0000047AA8	0	NA	ENST00000508487		ENSG00000081041	4603		14	2.595		HGNC	p.L15H		CXCL2		SNV							ENST00000508487	protein_coding	getma.org/?cm=var&var=hg19,4,74964794,A,T&fts=all		Prints_domain:PR00436,hmmpanther:PTHR10179:SF39,hmmpanther:PTHR10179,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/H		T	medium	217/1218		getma.org/?cm=msa&ty=f&p=CXCL2_HUMAN&rb=1&re=34&var=L15H	deleterious(0)	Q6LD33_HUMAN			YES	CXCL2,missense_variant,p.Leu15His,ENST00000508487,NM_002089.3;CXCL2,non_coding_transcript_exon_variant,,ENST00000296031,;CXCL2,non_coding_transcript_exon_variant,,ENST00000510048,;							MODERATE	44/324	L15H	CXCL2_HUMAN			Transcript		benign(0.41)	.	ENSP00000427279		CCDS34008.1			1	
PGM1	0	LGGM	GRCh37	1	64059177	64059177	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	7	13	.	.	ENST00000371084.3:c.18A>T	p.Thr6=	p.T6=	ENST00000371084	NM_002633.2	6	acA/acT	0	1	1	UPI000000105F	0		ENST00000371084		ENSG00000079739	8905		20			HGNC	p.T6T		PGM1		SNV			1				ENST00000371084	protein_coding			Gene3D:3.40.120.10,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF37,Superfamily_domains:SSF53738		T		T		231/2472								PGM1,synonymous_variant,p.=,ENST00000371084,NM_002633.2;PGM1,upstream_gene_variant,,ENST00000540265,NM_001172819.1;ITGB3BP,intron_variant,,ENST00000478138,;PGM1,upstream_gene_variant,,ENST00000473117,;							LOW	18/1689		PGM1_HUMAN			Transcript			.	ENSP00000360125		CCDS625.1			1	
EML6	0	LGGM	GRCh37	2	55179830	55179830	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	8	15	.	.	ENST00000356458.6:c.4312+1G>A		p.X1438_splice	ENST00000356458	NM_001039753.2			0	1	1	UPI00006C0432	0		ENST00000356458		ENSG00000214595	35412		23			HGNC	-		EML6		SNV							ENST00000356458	protein_coding							A		-/8320							YES	EML6,splice_donor_variant,,ENST00000356458,NM_001039753.2;EML6,splice_donor_variant,,ENST00000481376,;EML6,upstream_gene_variant,,ENST00000490828,;							HIGH	4312/5877		EMAL6_HUMAN			Transcript			.	ENSP00000348842		CCDS46286.1			1	
COL7A1	0	LGGM	GRCh37	3	48629345	48629345	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	34	15	.	.	ENST00000328333.8:c.1343G>T	p.Trp448Leu	p.W448L	ENST00000328333	NM_000094.3	448	tGg/tTg	0	1	1	UPI0000126D20	0	getma.org/pdb.php?prot=CO7A1_HUMAN&from=419&to=492&var=W448L	ENST00000328333		ENSG00000114270	2214		49	2.095		HGNC	p.W448L		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48629345,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265		W/L		A	medium	1451/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=419&re=492&var=W448L					YES	COL7A1,missense_variant,p.Trp448Leu,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Trp448Leu,ENST00000454817,;							MODERATE	1343/8835	W448L	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
RHBDF1	0	LGGM	GRCh37	16	112561	112561	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	19	15	.	.	ENST00000262316.6:c.928G>T	p.Glu310Ter	p.E310*	ENST00000262316	NM_022450.3	310	Gag/Tag	0	1	1	UPI00001A5206	0	NA	ENST00000262316		ENSG00000007384	20561		34	0		HGNC	p.E310X	rs542292412	RHBDF1		SNV							ENST00000454039	protein_coding	getma.org/?cm=var&var=hg19,16,112561,C,A&fts=all	T:0.0008	hmmpanther:PTHR22936:SF6,hmmpanther:PTHR22936		E/*		A	NA	1071/2992	1.52E-05	NA		A2IDA2_HUMAN	T:0	T:0.001	YES	RHBDF1,stop_gained,p.Glu310Ter,ENST00000262316,NM_022450.3;RHBDF1,stop_gained,p.Glu310Ter,ENST00000454039,;SNRNP25,downstream_gene_variant,,ENST00000293861,;SNRNP25,downstream_gene_variant,,ENST00000383018,NM_024571.3;RHBDF1,upstream_gene_variant,,ENST00000448893,;RHBDF1,downstream_gene_variant,,ENST00000450643,;RHBDF1,downstream_gene_variant,,ENST00000419764,;RHBDF1,3_prime_UTR_variant,,ENST00000428730,;RHBDF1,downstream_gene_variant,,ENST00000487201,;RHBDF1,upstream_gene_variant,,ENST00000493647,;RHBDF1,upstream_gene_variant,,ENST00000486045,;RHBDF1,downstream_gene_variant,,ENST00000417043,;RHBDF1,downstream_gene_variant,,ENST00000472390,;RHBDF1,upstream_gene_variant,,ENST00000482904,;		T:0.0004					HIGH	928/2568	E310*	RHDF1_HUMAN		T:0	Transcript			.	ENSP00000262316	8.24E-06	CCDS32344.1		T:0	1	
ZNF174	0	LGGM	GRCh37	16	3458568	3458568	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	25	15	.	.	ENST00000268655.4:c.873C>G	p.Ser291Arg	p.S291R	ENST00000268655	NM_003450.2	291	agC/agG	0	1	1	UPI000013C309	0	NA	ENST00000268655		ENSG00000103343	12963		40	0.55		HGNC	p.S291R		ZNF174		SNV							ENST00000571936	protein_coding	getma.org/?cm=var&var=hg19,16,3458568,C,G&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF10		S/R		G	neutral	1458/2260		getma.org/?cm=msa&ty=f&p=ZN174_HUMAN&rb=268&re=311&var=S291R	tolerated(0.15)				YES	ZNF174,missense_variant,p.Ser291Arg,ENST00000268655,NM_003450.2;ZNF174,missense_variant,p.Ser291Arg,ENST00000571936,;ZNF174,downstream_gene_variant,,ENST00000344823,NM_001032292.2;ZNF174,downstream_gene_variant,,ENST00000575752,;ZNF174,downstream_gene_variant,,ENST00000572544,;NAA60,intron_variant,,ENST00000575785,;							MODERATE	873/1224	S291R	ZN174_HUMAN			Transcript		benign(0.109)	.	ENSP00000268655		CCDS10504.1			1	
SMARCD1	0	LGGM	GRCh37	12	50480580	50480580	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	57	16	.	.	ENST00000394963.4:c.450C>G	p.Leu150=	p.L150=	ENST00000394963	NM_003076.4	150	ctC/ctG	0	1	1	UPI00001A92EC	0		ENST00000394963		ENSG00000066117	11106		73			HGNC	p.L150L		SMARCD1		SNV							ENST00000551966	protein_coding			hmmpanther:PTHR13844,hmmpanther:PTHR13844:SF1		L		G		848/3658				F8VW95_HUMAN			YES	SMARCD1,synonymous_variant,p.=,ENST00000394963,NM_003076.4;SMARCD1,synonymous_variant,p.=,ENST00000381513,NM_139071.2;SMARCD1,synonymous_variant,p.=,ENST00000550477,;SMARCD1,synonymous_variant,p.=,ENST00000551966,;SMARCD1,synonymous_variant,p.=,ENST00000551497,;ASIC1,downstream_gene_variant,,ENST00000228468,NM_020039.3;ASIC1,downstream_gene_variant,,ENST00000447966,NM_001095.3;ASIC1,downstream_gene_variant,,ENST00000552438,NM_001256830.1;SMARCD1,upstream_gene_variant,,ENST00000548573,;ASIC1,downstream_gene_variant,,ENST00000453327,;ASIC1,downstream_gene_variant,,ENST00000552633,;SMARCD1,non_coding_transcript_exon_variant,,ENST00000547247,;SMARCD1,non_coding_transcript_exon_variant,,ENST00000547637,;ASIC1,downstream_gene_variant,,ENST00000550558,;							LOW	450/1548		SMRD1_HUMAN			Transcript			.	ENSP00000378414		CCDS8797.2			1	
BMPER	0	LGGM	GRCh37	7	34094882	34094882	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	40	16	.	.	ENST00000297161.2:c.894C>G	p.Ile298Met	p.I298M	ENST00000297161	NM_133468.4	298	atC/atG	0	1	1	UPI000006D462	0	NA	ENST00000297161		ENSG00000164619	24154		56	-0.895		HGNC	p.I298M		BMPER		SNV			1				ENST00000297161	protein_coding	getma.org/?cm=var&var=hg19,7,34094882,C,G&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF254,Superfamily_domains:SSF57603		I/M		G	neutral	1268/5031		getma.org/?cm=msa&ty=f&p=BMPER_HUMAN&rb=225&re=300&var=I298M	tolerated(0.08)				YES	BMPER,missense_variant,p.Ile298Met,ENST00000297161,NM_133468.4;BMPER,missense_variant,p.Ile298Met,ENST00000426693,;BMPER,downstream_gene_variant,,ENST00000494786,;							MODERATE	894/2058	I298M	BMPER_HUMAN			Transcript		benign(0.245)	.	ENSP00000297161		CCDS5442.1			1	
DPYSL2	0	LGGM	GRCh37	8	26505233	26505233	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	30	16	.	.	ENST00000311151.5:c.1198C>G	p.Arg400Gly	p.R400G	ENST00000311151	NM_001386.5	400	Cgc/Ggc	0	1	1	UPI0000129864	0	getma.org/pdb.php?prot=DPYL2_HUMAN&from=64&to=413&var=R400G	ENST00000311151		ENSG00000092964	3014		46	3.055		HGNC	p.R400G		DPYSL2		SNV							ENST00000311151	protein_coding	getma.org/?cm=var&var=hg19,8,26505233,C,G&fts=all		Gene3D:2.30.40.10,Pfam_domain:PF01979,hmmpanther:PTHR11647,hmmpanther:PTHR11647:SF56,Superfamily_domains:SSF51338,TIGRFAM_domain:TIGR02033		R/G		G	medium	1610/4603		getma.org/?cm=msa&ty=f&p=DPYL2_HUMAN&rb=64&re=413&var=R400G	deleterious(0.01)	Q8NAN9_HUMAN,A9CQZ2_HUMAN			YES	DPYSL2,missense_variant,p.Arg400Gly,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Arg364Gly,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Arg364Gly,ENST00000523027,NM_001244604.1;DPYSL2,downstream_gene_variant,,ENST00000521983,;DPYSL2,downstream_gene_variant,,ENST00000474808,;							MODERATE	1198/1719	R400G	DPYL2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000309539		CCDS6051.1			1	
HMGN3	0	LGGM	GRCh37	6	79913327	79913327	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	34	16	.	.	ENST00000344726.5:c.117T>G	p.Pro39=	p.P39=	ENST00000344726	NM_004242.3	39	ccT/ccG	0	1	1	UPI000012CA50	0		ENST00000344726		ENSG00000118418	12312		50			HGNC	p.P39P		HMGN3		SNV							ENST00000275036	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23087:SF2,hmmpanther:PTHR23087,Pfam_domain:PF01101,SMART_domains:SM00527,Prints_domain:PR00925		P		C		246/872							YES	HMGN3,synonymous_variant,p.=,ENST00000344726,NM_004242.3,NM_001201363.1,NM_001201362.1;HMGN3,synonymous_variant,p.=,ENST00000275036,NM_138730.2;							LOW	117/300		HMGN3_HUMAN			Transcript			.	ENSP00000341267		CCDS4988.1			1	
FZD9	0	LGGM	GRCh37	7	72850021	72850021	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	11	16	.	.	ENST00000344575.3:c.1684G>A	p.Gly562Arg	p.G562R	ENST00000344575	NM_003508.2	562	Gga/Aga	0	1	1	UPI000004EC98	0	NA	ENST00000344575		ENSG00000188763	4047		27	0		HGNC	p.G562R	rs782108423	FZD9		SNV							ENST00000344575	protein_coding	getma.org/?cm=var&var=hg19,7,72850021,G,A&fts=all		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF79		G/R		A	neutral	1913/2342	1.52E-05	getma.org/?cm=msa&ty=f&p=FZD9_HUMAN&rb=548&re=591&var=G562R	tolerated(0.35)				YES	FZD9,missense_variant,p.Gly562Arg,ENST00000344575,NM_003508.2;BAZ1B,downstream_gene_variant,,ENST00000339594,NM_032408.3;							MODERATE	1684/1776	G562R	FZD9_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000345785	8.24E-06	CCDS5548.1			1	
DMD	0	LGGM	GRCh37	X	32486725	32486725	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	0	17	.	.	ENST00000357033.4:c.3052T>C	p.Tyr1018His	p.Y1018H	ENST00000357033	NM_004007.2	1018	Tat/Cat	0	1	1	UPI000049E111	0	NA	ENST00000357033		ENSG00000198947	2928		17	1.1		HGNC	p.Y1018H		DMD		SNV			1				ENST00000357033	protein_coding	getma.org/?cm=var&var=hg19,X,32486725,A,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		Y/H		G	low	3259/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=942&re=1045&var=Y1018H		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			YES	DMD,missense_variant,p.Tyr1018His,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Tyr1014His,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,;							MODERATE	3052/11058	Y1018H				Transcript		probably_damaging(0.994)	.	ENSP00000354923		CCDS14233.1			1	
N4BP2L1	0	LGGM	GRCh37	13	32978520	32978520	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	5	17	.	.	ENST00000380130.2:c.411C>A	p.Asn137Lys	p.N137K	ENST00000380130	NM_052818.2	137	aaC/aaA	0	1	1	UPI000003CA35	0	getma.org/pdb.php?prot=N42L1_HUMAN&from=44&to=178&var=N137K	ENST00000380130		ENSG00000139597	25037		22	0.32		HGNC	p.N31K		N4BP2L1		SNV							ENST00000530622	protein_coding	getma.org/?cm=var&var=hg19,13,32978520,G,T&fts=all		hmmpanther:PTHR13308,Gene3D:3.40.50.300,Pfam_domain:PF13671,Superfamily_domains:SSF52540		N/K		T	neutral	507/3046		getma.org/?cm=msa&ty=f&p=N42L1_HUMAN&rb=44&re=178&var=N137K	tolerated(0.66)	Q9Y273_HUMAN,Q9UQP6_HUMAN			YES	N4BP2L1,missense_variant,p.Asn137Lys,ENST00000380130,NM_052818.2;N4BP2L1,missense_variant,p.Asn31Lys,ENST00000530622,;N4BP2L1,missense_variant,p.Asn137Lys,ENST00000380133,;N4BP2L1,missense_variant,p.Asn115Lys,ENST00000495479,;N4BP2L1,missense_variant,p.Asn115Lys,ENST00000343281,;N4BP2L1,intron_variant,,ENST00000380139,NM_001079691.1;BRCA2,downstream_gene_variant,,ENST00000544455,NM_000059.3;N4BP2L1,non_coding_transcript_exon_variant,,ENST00000459716,;N4BP2L1,downstream_gene_variant,,ENST00000472298,;							MODERATE	411/732	N137K	N42L1_HUMAN			Transcript		benign(0.115)	.	ENSP00000369473		CCDS9345.2			1	
BPTF	0	LGGM	GRCh37	17	65908039	65908039	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	21	20	.	.	ENST00000306378.6:c.4039G>A	p.Asp1347Asn	p.D1347N	ENST00000306378	NM_182641.3	1347	Gac/Aac	0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		41	0.805		HGNC	p.D1473N		BPTF		SNV							ENST00000335221	protein_coding	getma.org/?cm=var&var=hg19,17,65908039,G,A&fts=all		hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		D/N		A	low	4478/11292		getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=1438&re=1637&var=D1473N						BPTF,missense_variant,p.Asp1473Asn,ENST00000321892,;BPTF,missense_variant,p.Asp1473Asn,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Asp1347Asn,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Asp1334Asn,ENST00000424123,;BPTF,missense_variant,p.Asp1410Asn,ENST00000544778,;							MODERATE	4417/9141	D1473N	BPTF_HUMAN			Transcript		benign(0.003)	.	ENSP00000315454					1	
NEK10	0	LGGM	GRCh37	3	27183016	27183016	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	51	20	.	.	ENST00000295720.6:c.1034A>T	p.Gln345Leu	p.Q345L	ENST00000295720		345	cAg/cTg	0	1	1	UPI0000EE2A86	0		ENST00000429845		ENSG00000163491	18592		71			HGNC	p.Q1033L		NEK10		SNV							ENST00000429845	protein_coding			hmmpanther:PTHR26266,hmmpanther:PTHR26266:SF77,Low_complexity_(Seg):seg		Q/L		A		3461/4250			tolerated(0.26)	C9JJN0_HUMAN				NEK10,missense_variant,p.Gln1033Leu,ENST00000429845,;NEK10,missense_variant,p.Gln345Leu,ENST00000295720,;NEK10,missense_variant,p.Gln335Leu,ENST00000383771,;NEK10,missense_variant,p.Gln288Leu,ENST00000383770,;NEK10,non_coding_transcript_exon_variant,,ENST00000498182,;							MODERATE	3098/3519		NEK10_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000395849					1	
AXDND1	0	LGGM	GRCh37	1	179460796	179460796	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	39	20	.	.	ENST00000367618.3:c.2215A>G	p.Ile739Val	p.I739V	ENST00000367618	NM_144696.5	739	Ata/Gta	0	1	1	UPI000022AC91	0	NA	ENST00000367618		ENSG00000162779	26564		59	0.14		HGNC	p.I739V	rs554642340	AXDND1		SNV							ENST00000367618	protein_coding	getma.org/?cm=var&var=hg19,1,179460796,A,G&fts=all	G:0	hmmpanther:PTHR23052		I/V		G	neutral	2602/3642		getma.org/?cm=msa&ty=f&p=AXDN1_HUMAN&rb=397&re=919&var=I739V	tolerated(0.45)	D6REE1_HUMAN,D6RDY4_HUMAN,D6RCN1_HUMAN,D6RB87_HUMAN,D6R9B7_HUMAN	G:0	G:0.001	YES	AXDND1,missense_variant,p.Ile739Val,ENST00000367618,NM_144696.5;AXDND1,missense_variant,p.Ile673Val,ENST00000434088,;AXDND1,downstream_gene_variant,,ENST00000457238,;AL160286.1,upstream_gene_variant,,ENST00000600581,;AXDND1,upstream_gene_variant,,ENST00000484883,;AXDND1,3_prime_UTR_variant,,ENST00000511157,;	0.000116	G:0.0002					MODERATE	2215/3039	I739V	AXDN1_HUMAN		G:0	Transcript		benign(0.001)	.	ENSP00000356590	8.24E-06	CCDS30948.1		G:0	1	
LAMB1	0	LGGM	GRCh37	7	107566761	107566761	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	28	21	.	.	ENST00000222399.6:c.4931C>T	p.Ala1644Val	p.A1644V	ENST00000222399	NM_002291.2	1644	gCg/gTg	0	1	1	UPI00001AE63F	0	NA	ENST00000222399		ENSG00000091136	6486		49	2.25		HGNC	p.A1668V		LAMB1		SNV			1				ENST00000393561	protein_coding	getma.org/?cm=var&var=hg19,7,107566761,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF233,Superfamily_domains:SSF46579		A/V		A	medium	5162/5725		getma.org/?cm=msa&ty=f&p=LAMB1_HUMAN&rb=1577&re=1706&var=A1644V	tolerated(0.15)	Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,missense_variant,p.Ala1668Val,ENST00000393561,;LAMB1,missense_variant,p.Ala1644Val,ENST00000222399,NM_002291.2;LAMB1,downstream_gene_variant,,ENST00000474380,;LAMB1,non_coding_transcript_exon_variant,,ENST00000472714,;DLD,intron_variant,,ENST00000417551,;							MODERATE	4931/5361	A1644V	LAMB1_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000222399		CCDS5750.1			1	
HERC2	0	LGGM	GRCh37	15	28361831	28361831	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	17	21	.	.	ENST00000261609.7:c.13589G>T	p.Ser4530Ile	p.S4530I	ENST00000261609	NM_004667.5	4530	aGc/aTc	0	1	1	UPI00004578F7	0	getma.org/pdb.php?prot=HERC2_HUMAN&from=4487&to=4791&var=S4530I	ENST00000261609		ENSG00000128731	4868		38	-1.04		HGNC	p.S4530I		HERC2		SNV			1				ENST00000261609	protein_coding	getma.org/?cm=var&var=hg19,15,28361831,C,A&fts=all		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF308,SMART_domains:SM00119,Superfamily_domains:SSF56204		S/I		A	neutral	13698/15337		getma.org/?cm=msa&ty=f&p=HERC2_HUMAN&rb=4487&re=4791&var=S4530I					YES	HERC2,missense_variant,p.Ser4530Ile,ENST00000261609,NM_004667.5;HERC2,non_coding_transcript_exon_variant,,ENST00000566635,;HERC2,non_coding_transcript_exon_variant,,ENST00000568206,;HERC2,upstream_gene_variant,,ENST00000562136,;							MODERATE	13589/14505	S4530I	HERC2_HUMAN			Transcript		benign(0)	.	ENSP00000261609		CCDS10021.1			1	
C1orf106	0	LGGM	GRCh37	1	200880613	200880613	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	43	21	.	.	ENST00000413687.2:c.992G>A	p.Arg331Gln	p.R331Q	ENST00000413687	NM_001142569.2	331	cGa/cAa	0	1		UPI000013E26E	0	NA	ENST00000367342		ENSG00000163362	25599		64	1.935		HGNC	p.R331Q	rs758771262	C1orf106		SNV							ENST00000413687	protein_coding	getma.org/?cm=var&var=hg19,1,200880613,G,A&fts=all		hmmpanther:PTHR16093,hmmpanther:PTHR16093:SF4		R/Q		A	medium	1447/4298		getma.org/?cm=msa&ty=f&p=CA106_HUMAN&rb=218&re=417&var=R416Q	deleterious(0)	E9PK29_HUMAN,C9JAT8_HUMAN				C1orf106,missense_variant,p.Arg416Gln,ENST00000367342,NM_018265.3;C1orf106,missense_variant,p.Arg331Gln,ENST00000413687,NM_001142569.2;C1orf106,non_coding_transcript_exon_variant,,ENST00000526172,;C1orf106,upstream_gene_variant,,ENST00000465162,;C1orf106,downstream_gene_variant,,ENST00000531649,;	0.000116						MODERATE	1247/1992	R416Q	CA106_HUMAN			Transcript		benign(0.326)	.	ENSP00000356311	8.24E-06				1	
WRN	0	LGGM	GRCh37	8	30999049	30999049	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	46	22	.	.	ENST00000298139.5:c.3071C>T	p.Thr1024Ile	p.T1024I	ENST00000298139	NM_000553.4	1024	aCt/aTt	0	1	1	UPI000013E49D	0	getma.org/pdb.php?prot=WRN_HUMAN&from=958&to=1064&var=T1024I	ENST00000298139		ENSG00000165392	12791		68	0.55		HGNC	p.T1024I		WRN		SNV			1				ENST00000298139	protein_coding	getma.org/?cm=var&var=hg19,8,30999049,C,T&fts=all		Superfamily_domains:SSF46785,SMART_domains:SM00956,Pfam_domain:PF09382,Gene3D:1.10.10.10,hmmpanther:PTHR13710,hmmpanther:PTHR13710:SF80		T/I		T	neutral	3320/5215		getma.org/?cm=msa&ty=f&p=WRN_HUMAN&rb=958&re=1064&var=T1024I	tolerated(0.33)				YES	WRN,missense_variant,p.Thr1024Ile,ENST00000298139,NM_000553.4;WRN,non_coding_transcript_exon_variant,,ENST00000521620,;							MODERATE	3071/4299	T1024I	WRN_HUMAN			Transcript		benign(0.004)	.	ENSP00000298139		CCDS6082.1			1	
ZNF582	0	LGGM	GRCh37	19	56895880	56895880	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	35	23	.	.	ENST00000301310.4:c.906T>C	p.Tyr302=	p.Y302=	ENST00000301310	NM_144690.1	302	taT/taC	0	1	1	UPI000006D278	0		ENST00000301310		ENSG00000018869	26421		58			HGNC	p.Y302Y		ZNF582		SNV							ENST00000301310	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF115,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y		G		1065/2824				B4DQZ9_HUMAN			YES	ZNF582,synonymous_variant,p.=,ENST00000301310,NM_144690.1;ZNF582,synonymous_variant,p.=,ENST00000586929,;ZNF582,intron_variant,,ENST00000589143,;AC006116.12,upstream_gene_variant,,ENST00000589671,;ZNF542,downstream_gene_variant,,ENST00000490123,;ZNF542,downstream_gene_variant,,ENST00000495307,;ZNF542,downstream_gene_variant,,ENST00000467807,;ZNF582,downstream_gene_variant,,ENST00000587778,;ZNF582,downstream_gene_variant,,ENST00000593145,;SLC25A36P1,upstream_gene_variant,,ENST00000590111,;							LOW	906/1554		ZN582_HUMAN			Transcript			.	ENSP00000301310		CCDS33121.1			1	
SREBF2	0	LGGM	GRCh37	22	42269982	42269982	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	29	23	.	.	ENST00000361204.4:c.1048A>G	p.Ile350Val	p.I350V	ENST00000361204	NM_004599.3	350	Atc/Gtc	0	1	1	UPI00001678D0	0	getma.org/pdb.php?prot=SRBP2_HUMAN&from=331&to=381&var=I350V	ENST00000361204		ENSG00000198911	11290		52	3.36		HGNC	p.I350V		SREBF2		SNV							ENST00000361204	protein_coding	getma.org/?cm=var&var=hg19,22,42269982,A,G&fts=all		PROSITE_profiles:PS50888,hmmpanther:PTHR12565:SF6,hmmpanther:PTHR12565,Pfam_domain:PF00010,Gene3D:4.10.280.10,SMART_domains:SM00353,Superfamily_domains:SSF47459		I/V		G	medium	1214/5240		getma.org/?cm=msa&ty=f&p=SRBP2_HUMAN&rb=331&re=381&var=I350V	deleterious(0.03)	Q8NCY3_HUMAN			YES	SREBF2,missense_variant,p.Ile350Val,ENST00000361204,NM_004599.3;SREBF2,missense_variant,p.Ile350Val,ENST00000424354,;SREBF2,non_coding_transcript_exon_variant,,ENST00000462539,;SREBF2,upstream_gene_variant,,ENST00000464119,;							MODERATE	1048/3426	I350V	SRBP2_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000354476		CCDS14023.1			1	
HTRA4	0	LGGM	GRCh37	8	38840049	38840049	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	17	23	.	.	ENST00000302495.4:c.1147C>A	p.Leu383Met	p.L383M	ENST00000302495	NM_153692.3	383	Ctg/Atg	0	1	1	UPI0000001BEC	0	getma.org/pdb.php?prot=HTRA4_HUMAN&from=379&to=470&var=L383M	ENST00000302495		ENSG00000169495	26909		40	1.57		HGNC	p.L383M		HTRA4		SNV							ENST00000302495	protein_coding	getma.org/?cm=var&var=hg19,8,38840049,C,A&fts=all		hmmpanther:PTHR22939,hmmpanther:PTHR22939:SF16,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		L/M		A	low	1247/2095		getma.org/?cm=msa&ty=f&p=HTRA4_HUMAN&rb=379&re=470&var=L383M	deleterious(0)	B4DTF7_HUMAN			YES	HTRA4,missense_variant,p.Leu383Met,ENST00000302495,NM_153692.3;							MODERATE	1147/1431	L383M	HTRA4_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000305919		CCDS6110.1			1	
DACH1	0	LGGM	GRCh37	13	72147090	72147090	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	16	23	.	.	ENST00000305425.4:c.1187C>T	p.Pro396Leu	p.P396L	ENST00000305425	NM_080759.4	396	cCt/cTt	0	1	1	UPI00001FCE9E	0	NA	ENST00000305425		ENSG00000165659	2663		39	2.125		HGNC	p.P396L		DACH1		SNV							ENST00000305425	protein_coding	getma.org/?cm=var&var=hg19,13,72147090,G,A&fts=all		hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14		P/L		A	medium	1610/5239		getma.org/?cm=msa&ty=f&p=DACH1_HUMAN&rb=292&re=756&var=P446L					YES	DACH1,missense_variant,p.Pro396Leu,ENST00000305425,NM_080759.4;DACH1,missense_variant,p.Pro448Leu,ENST00000359684,;DACH1,intron_variant,,ENST00000313174,NM_080760.4;DACH1,intron_variant,,ENST00000354591,NM_004392.5;							MODERATE	1187/2127	P446L	DACH1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000304994		CCDS41899.1			1	
RAPGEF2	0	LGGM	GRCh37	4	160253105	160253105	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	25	23	.	.	ENST00000264431.4:c.1324G>T	p.Glu442Ter	p.E442*	ENST00000264431	NM_014247.2	442	Gaa/Taa	0	1	1	UPI0000033783	0	NA	ENST00000264431		ENSG00000109756	16854		48	0		HGNC	p.E442X		RAPGEF2		SNV							ENST00000264431	protein_coding	getma.org/?cm=var&var=hg19,4,160253105,G,T&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF202,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		E/*		T	NA	1743/6949		NA		Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN			YES	RAPGEF2,stop_gained,p.Glu442Ter,ENST00000264431,NM_014247.2;RAPGEF2,stop_gained,p.Glu80Ter,ENST00000512056,;RAPGEF2,downstream_gene_variant,,ENST00000513816,;							HIGH	1324/4500	E442*	RPGF2_HUMAN			Transcript			.	ENSP00000264431		CCDS43277.1			1	
ABI3BP	0	LGGM	GRCh37	3	100472683	100472683	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	36	25	.	.	ENST00000284322.5:c.2807G>A	p.Arg936Lys	p.R936K	ENST00000284322	NM_015429.3	936	aGa/aAa	0	1	1	UPI000011C136	0	NA	ENST00000284322		ENSG00000154175	17265		61	1.95		HGNC	p.R890K		ABI3BP		SNV							ENST00000383691	protein_coding	getma.org/?cm=var&var=hg19,3,100472683,C,T&fts=all		hmmpanther:PTHR23197		R/K		T	medium	2917/4498		getma.org/?cm=msa&ty=f&p=TARSH_HUMAN&rb=924&re=1075&var=R936K	deleterious(0.05)				YES	ABI3BP,missense_variant,p.Arg1638Lys,ENST00000471714,;ABI3BP,missense_variant,p.Arg936Lys,ENST00000284322,NM_015429.3;ABI3BP,missense_variant,p.Arg992Lys,ENST00000495591,;ABI3BP,missense_variant,p.Arg890Lys,ENST00000383691,;TFG,downstream_gene_variant,,ENST00000240851,NM_001195478.1,NM_006070.5,NM_001195479.1;TFG,downstream_gene_variant,,ENST00000476228,;TFG,downstream_gene_variant,,ENST00000418917,NM_001007565.2;TFG,downstream_gene_variant,,ENST00000490574,;TFG,downstream_gene_variant,,ENST00000481203,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000470336,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000487012,;ABI3BP,non_coding_transcript_exon_variant,,ENST00000497021,;							MODERATE	2807/3228	R936K	TARSH_HUMAN			Transcript		possibly_damaging(0.745)	.	ENSP00000284322		CCDS46880.1			1	
DCAF8	0	LGGM	GRCh37	1	160188146	160188146	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	62	26	.	.	ENST00000368073.3:c.1645A>G	p.Met549Val	p.M549V	ENST00000368073		549	Atg/Gtg	0	1		UPI0000141A39	0	NA	ENST00000326837		ENSG00000132716	24891		88	2.425		HGNC	p.M549V		DCAF8		SNV			1				ENST00000326837	protein_coding	getma.org/?cm=var&var=hg19,1,160188146,T,C&fts=all		hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF30		M/V		C	medium	1946/3972		getma.org/?cm=msa&ty=f&p=DCAF8_HUMAN&rb=507&re=597&var=M549V	tolerated(0.11)	Q5TAQ8_HUMAN,Q5TAQ7_HUMAN,Q5TAQ6_HUMAN,Q5TAQ5_HUMAN,B7Z8C9_HUMAN				DCAF8,missense_variant,p.Met549Val,ENST00000368073,;DCAF8,missense_variant,p.Met549Val,ENST00000326837,;DCAF8,missense_variant,p.Met549Val,ENST00000368074,NM_015726.3;DCAF8,missense_variant,p.Met703Val,ENST00000608310,;DCAF8,missense_variant,p.Met703Val,ENST00000556710,;DCAF8,missense_variant,p.Met33Val,ENST00000473382,;DCAF8,intron_variant,,ENST00000477163,;PEA15,downstream_gene_variant,,ENST00000368076,;PEA15,downstream_gene_variant,,ENST00000360472,NM_003768.3;PEA15,downstream_gene_variant,,ENST00000368077,;PEA15,downstream_gene_variant,,ENST00000488858,;DCAF8,3_prime_UTR_variant,,ENST00000461888,;DCAF8,3_prime_UTR_variant,,ENST00000490368,;DCAF8,non_coding_transcript_exon_variant,,ENST00000481831,;DCAF8,non_coding_transcript_exon_variant,,ENST00000476033,;DCAF8,non_coding_transcript_exon_variant,,ENST00000497354,;DCAF8,downstream_gene_variant,,ENST00000466253,;							MODERATE	1645/1794	M549V	DCAF8_HUMAN			Transcript		benign(0.081)	.	ENSP00000318227		CCDS1200.1			1	
ARL6IP6	0	LGGM	GRCh37	2	153616274	153616274	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	18	27	.	.	ENST00000326446.5:c.601C>T	p.His201Tyr	p.H201Y	ENST00000326446	NM_152522.5	201	Cat/Tat	0	1	1	UPI000006EA01	0	NA	ENST00000326446		ENSG00000177917	24048		45	2.125		HGNC	p.H201Y		ARL6IP6		SNV							ENST00000326446	protein_coding	getma.org/?cm=var&var=hg19,2,153616274,C,T&fts=all		Pfam_domain:PF15062		H/Y		T	medium	1312/2805		getma.org/?cm=msa&ty=f&p=AR6P6_HUMAN&rb=1&re=225&var=H201Y	deleterious(0)				YES	ARL6IP6,missense_variant,p.His201Tyr,ENST00000326446,NM_152522.5;ARL6IP6,non_coding_transcript_exon_variant,,ENST00000463690,;ARL6IP6,non_coding_transcript_exon_variant,,ENST00000495469,;ARL6IP6,3_prime_UTR_variant,,ENST00000455875,;ARL6IP6,3_prime_UTR_variant,,ENST00000425034,;							MODERATE	601/681	H201Y	AR6P6_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000315357		CCDS2197.1			1	
RBBP5	0	LGGM	GRCh37	1	205074221	205074221	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	36	27	.	.	ENST00000264515.6:c.294C>T	p.Gly98=	p.G98=	ENST00000264515	NM_001193273.1	98	ggC/ggT	0	1	1	UPI00001A9CA5	0		ENST00000264515		ENSG00000117222	9888		63			HGNC	p.G98G		RBBP5		SNV							ENST00000367164	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR12816,Superfamily_domains:SSF117289		G		A		436/4404							YES	RBBP5,synonymous_variant,p.=,ENST00000264515,NM_001193273.1,NM_005057.3;RBBP5,synonymous_variant,p.=,ENST00000367164,NM_001193272.1;RBBP5,non_coding_transcript_exon_variant,,ENST00000484379,;							LOW	294/1617		RBBP5_HUMAN			Transcript			.	ENSP00000264515		CCDS30983.1			1	
MAT2A	0	LGGM	GRCh37	2	85770101	85770101	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	44	27	.	.	ENST00000306434.3:c.1029A>C	p.Arg343Ser	p.R343S	ENST00000306434	NM_005911.5	343	agA/agC	0	1	1	UPI0000000C32	0	getma.org/pdb.php?prot=METK2_HUMAN&from=252&to=389&var=R343S	ENST00000306434		ENSG00000168906	6904		71	-0.65		HGNC	p.R343S		MAT2A		SNV							ENST00000306434	protein_coding	getma.org/?cm=var&var=hg19,2,85770101,A,C&fts=all		HAMAP:MF_00086,hmmpanther:PTHR11964,TIGRFAM_domain:TIGR01034,Pfam_domain:PF02773,Gene3D:3.30.300.10,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973		R/S		C	neutral	1152/2819		getma.org/?cm=msa&ty=f&p=METK2_HUMAN&rb=252&re=389&var=R343S	tolerated(0.43)	B4DN45_HUMAN,B4DEX8_HUMAN			YES	MAT2A,missense_variant,p.Arg343Ser,ENST00000306434,NM_005911.5;MAT2A,missense_variant,p.Arg280Ser,ENST00000409017,;GGCX,downstream_gene_variant,,ENST00000233838,NM_000821.5;MAT2A,downstream_gene_variant,,ENST00000490878,;GGCX,downstream_gene_variant,,ENST00000465637,;MAT2A,non_coding_transcript_exon_variant,,ENST00000481412,;MAT2A,downstream_gene_variant,,ENST00000469221,;MAT2A,downstream_gene_variant,,ENST00000465151,;							MODERATE	1029/1188	R343S	METK2_HUMAN			Transcript		benign(0.002)	.	ENSP00000303147		CCDS1977.1			1	
FBXW8	0	LGGM	GRCh37	12	117383173	117383173	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	33	29	.	.	ENST00000309909.5:c.428G>A	p.Ser143Asn	p.S143N	ENST00000309909		143	aGc/aAc	0	1	1	UPI000019AB72	0	getma.org/pdb.php?prot=FBXW8_HUMAN&from=117&to=161&var=S143N	ENST00000309909		ENSG00000174989	13597		62	2.01		HGNC	p.S143N		FBXW8		SNV							ENST00000309909	protein_coding	getma.org/?cm=var&var=hg19,12,117383173,G,A&fts=all		Gene3D:1.20.1280.50,Pfam_domain:PF12937,PROSITE_profiles:PS50181,hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF157,SMART_domains:SM00256,Superfamily_domains:SSF81383		S/N		A	medium	510/2343		getma.org/?cm=msa&ty=f&p=FBXW8_HUMAN&rb=117&re=161&var=S143N	deleterious(0)				YES	FBXW8,missense_variant,p.Ser77Asn,ENST00000455858,NM_153348.2,NM_012174.1;FBXW8,missense_variant,p.Ser143Asn,ENST00000309909,;							MODERATE	428/1797	S143N	FBXW8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310686		CCDS9182.1			1	
DNAH7	0	LGGM	GRCh37	2	196837098	196837098	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	75	30	.	.	ENST00000312428.6:c.1926T>C	p.Tyr642=	p.Y642=	ENST00000312428	NM_018897.2	642	taT/taC	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		105			HGNC	p.Y642Y		DNAH7		SNV							ENST00000312428	protein_coding			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676		Y		G		2027/12394				C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;							LOW	1926/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273		CCDS42794.1			1	
ABCB7	0	LGGM	GRCh37	X	74290353	74290353	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	2	32	.	.	ENST00000253577.3:c.1215C>A	p.Thr405=	p.T405=	ENST00000253577	NM_001271696.1	405	acC/acA	0	1		UPI0000125116	0		ENST00000373394		ENSG00000131269	48		34			HGNC	p.T378T		ABCB7		SNV			1				ENST00000529949	protein_coding			Superfamily_domains:SSF90123,Pfam_domain:PF00664,Gene3D:2hydA01,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF18,PROSITE_profiles:PS50929,Transmembrane_helices:TMhelix		T		T		1220/2353								ABCB7,synonymous_variant,p.=,ENST00000253577,NM_001271696.1,NM_004299.4;ABCB7,synonymous_variant,p.=,ENST00000373394,;ABCB7,synonymous_variant,p.=,ENST00000339447,NM_001271699.1,NM_001271697.1;ABCB7,synonymous_variant,p.=,ENST00000529949,NM_001271698.1;ABCB7,downstream_gene_variant,,ENST00000534524,;ABCB7,non_coding_transcript_exon_variant,,ENST00000534570,;ABCB7,non_coding_transcript_exon_variant,,ENST00000469368,;							LOW	1212/2259		ABCB7_HUMAN			Transcript			.	ENSP00000362492		CCDS65291.1			1	
DOCK10	0	LGGM	GRCh37	2	225717737	225717737	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	100	32	.	.	ENST00000258390.7:c.1991A>G	p.Tyr664Cys	p.Y664C	ENST00000258390	NM_014689.2	664	tAt/tGt	0	1	1	UPI000021D2A7	0	NA	ENST00000258390		ENSG00000135905	23479		132	1.285		HGNC	p.Y658C		DOCK10		SNV							ENST00000409592	protein_coding	getma.org/?cm=var&var=hg19,2,225717737,T,C&fts=all		hmmpanther:PTHR23317:SF71,hmmpanther:PTHR23317		Y/C		C	low	2059/7260		getma.org/?cm=msa&ty=f&p=DOC10_HUMAN&rb=491&re=666&var=Y664C	tolerated(0.22)	Q4ZG60_HUMAN,Q3LIC8_HUMAN			YES	DOCK10,missense_variant,p.Tyr658Cys,ENST00000409592,;DOCK10,missense_variant,p.Tyr664Cys,ENST00000258390,NM_014689.2;							MODERATE	1991/6561	Y664C	DOC10_HUMAN			Transcript		benign(0.001)	.	ENSP00000258390		CCDS46528.1			1	
TEX15	0	LGGM	GRCh37	8	30702495	30702495	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	71	33	.	.	ENST00000256246.2:c.4039G>T	p.Gly1347Ter	p.G1347*	ENST00000256246	NM_031271.3	1347	Gga/Tga	0	1	1	UPI000013CEF9	0	NA	ENST00000256246		ENSG00000133863	11738		104	0		HGNC	p.G1347X		TEX15		SNV							ENST00000256246	protein_coding	getma.org/?cm=var&var=hg19,8,30702495,C,A&fts=all		hmmpanther:PTHR22380,hmmpanther:PTHR22380:SF1		G/*		A	NA	4114/10187		NA		D3DSV6_HUMAN			YES	TEX15,stop_gained,p.Gly1347Ter,ENST00000256246,NM_031271.3;TEX15,downstream_gene_variant,,ENST00000523186,;							HIGH	4039/8370	G1347*	TEX15_HUMAN			Transcript			.	ENSP00000256246		CCDS6080.1			1	
DNAH5	0	LGGM	GRCh37	5	13862773	13862773	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	34	33	.	.	ENST00000265104.4:c.4680C>T	p.Phe1560=	p.F1560=	ENST00000265104	NM_001369.2	1560	ttC/ttT	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		67			HGNC	p.F1560F		DNAH5		SNV			1				ENST00000265104	protein_coding			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		F		A		4785/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							LOW	4680/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
WIF1	0	LGGM	GRCh37	12	65462650	65462650	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	45	34	.	.	ENST00000286574.4:c.432G>T	p.Gln144His	p.Q144H	ENST00000286574	NM_007191.4	144	caG/caT	0	1	1	UPI0000038BEE	0	getma.org/pdb.php?prot=WIF1_HUMAN&from=38&to=173&var=Q144H	ENST00000286574		ENSG00000156076	18081		79	1.1		HGNC	p.Q82H		WIF1		SNV							ENST00000546001	protein_coding	getma.org/?cm=var&var=hg19,12,65462650,C,A&fts=all		PROSITE_profiles:PS50814,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,Pfam_domain:PF02019,SMART_domains:SM00469		Q/H		A	low	807/2238		getma.org/?cm=msa&ty=f&p=WIF1_HUMAN&rb=38&re=173&var=Q144H	tolerated(0.07)	F5H8A3_HUMAN,B4DX53_HUMAN			YES	WIF1,missense_variant,p.Gln144His,ENST00000286574,NM_007191.4;WIF1,missense_variant,p.Gln82His,ENST00000546001,;WIF1,upstream_gene_variant,,ENST00000543094,;							MODERATE	432/1140	Q144H	WIF1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000286574		CCDS8971.1			1	
GSTO2	0	LGGM	GRCh37	10	106034984	106034984	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	16	35	.	.	ENST00000338595.2:c.35G>T	p.Gly12Val	p.G12V	ENST00000338595	NM_183239.1	12	gGa/gTa	0	1	1	UPI000004D293	0	getma.org/pdb.php?prot=GSTO2_HUMAN&from=1&to=25&var=G12V	ENST00000338595		ENSG00000065621	23064		51	3.325		HGNC	p.G12V		GSTO2		SNV							ENST00000401888	protein_coding	getma.org/?cm=var&var=hg19,10,106034984,G,T&fts=all		hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF147,Gene3D:3.40.30.10		G/V		T	medium	355/1179		getma.org/?cm=msa&ty=f&p=GSTO2_HUMAN&rb=1&re=55&var=G12V	deleterious(0)				YES	GSTO2,missense_variant,p.Gly12Val,ENST00000450629,NM_001191013.1;GSTO2,missense_variant,p.Gly12Val,ENST00000338595,NM_183239.1;GSTO2,missense_variant,p.Gly12Val,ENST00000401888,;GSTO2,5_prime_UTR_variant,,ENST00000369707,NM_001191014.1;GSTO2,5_prime_UTR_variant,,ENST00000429569,;GSTO2,intron_variant,,ENST00000477078,;GSTO2,intron_variant,,ENST00000473401,;							MODERATE	35/732	G12V	GSTO2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345023		CCDS7556.1			1	
ASZ1	0	LGGM	GRCh37	7	117067413	117067413	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	32	36	.	.	ENST00000284629.2:c.102T>A	p.Ser34=	p.S34=	ENST00000284629	NM_130768.2	34	tcT/tcA	0	1	1	UPI0000070EE2	0		ENST00000284629		ENSG00000154438	1350		68			HGNC	p.S34S		ASZ1		SNV							ENST00000284629	protein_coding			hmmpanther:PTHR24157		S		T		165/1865				C9JP59_HUMAN,B7ZM20_HUMAN			YES	ASZ1,synonymous_variant,p.=,ENST00000284629,NM_130768.2;ASZ1,intron_variant,,ENST00000428663,;ASZ1,synonymous_variant,p.=,ENST00000450714,;ASZ1,non_coding_transcript_exon_variant,,ENST00000463182,;ASZ1,non_coding_transcript_exon_variant,,ENST00000465832,;ASZ1,non_coding_transcript_exon_variant,,ENST00000479454,;							LOW	102/1428		ASZ1_HUMAN			Transcript			.	ENSP00000284629		CCDS5772.1			1	
TRIML2	0	LGGM	GRCh37	4	189026406	189026406	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	29	37	.	.	ENST00000512729.1:c.-34C>T		*12*	ENST00000512729	NM_173553.1			0	1	1	UPI000007300A	0		ENST00000512729		ENSG00000179046	26378		66			HGNC	p.S39S		TRIML2		SNV							ENST00000536972	protein_coding							A		342/1639							YES	TRIML2,synonymous_variant,p.=,ENST00000536972,;TRIML2,5_prime_UTR_variant,,ENST00000512729,NM_173553.1;TRIML2,upstream_gene_variant,,ENST00000326754,;TRIML2,downstream_gene_variant,,ENST00000502707,;TRIML2,downstream_gene_variant,,ENST00000394461,;TRIML2,non_coding_transcript_exon_variant,,ENST00000511771,;TRIML2,upstream_gene_variant,,ENST00000503141,;TRIML2,upstream_gene_variant,,ENST00000503475,;RP11-713C19.1,upstream_gene_variant,,ENST00000464002,;							MODIFIER	-/1164		TRIMM_HUMAN			Transcript			.	ENSP00000422581		CCDS3850.1			1	
KRT9	0	LGGM	GRCh37	17	39726224	39726224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	27	37	.	.	ENST00000246662.4:c.769A>G	p.Ile257Val	p.I257V	ENST00000246662	NM_000226.3	257	Atc/Gtc	0	1	1	UPI00001AE6F7	0	getma.org/pdb.php?prot=K1C9_HUMAN&from=152&to=464&var=I257V	ENST00000246662		ENSG00000171403	6447		64	1.835		HGNC	p.I24V		KRT9		SNV			1				ENST00000588431	protein_coding	getma.org/?cm=var&var=hg19,17,39726224,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF96,Pfam_domain:PF00038,Prints_domain:PR01248		I/V		C	low	835/2287		getma.org/?cm=msa&ty=f&p=K1C9_HUMAN&rb=152&re=464&var=I257V	deleterious(0.03)	K7EQQ3_HUMAN			YES	KRT9,missense_variant,p.Ile257Val,ENST00000246662,NM_000226.3;KRT9,missense_variant,p.Ile24Val,ENST00000588431,;							MODERATE	769/1872	I257V	K1C9_HUMAN			Transcript		benign(0.223)	.	ENSP00000246662		CCDS32654.1			1	
MS4A2	0	LGGM	GRCh37	11	59857183	59857183	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	77	38	.	.	ENST00000278888.3:c.75C>A	p.Val25=	p.V25=	ENST00000278888	NM_000139.4	25	gtC/gtA	0	1	1	UPI0000038E6F	0		ENST00000278888		ENSG00000149534	7316		115			HGNC	p.V25V		MS4A2		SNV							ENST00000278888	protein_coding			hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9		V		A		177/1152				E9PLJ1_HUMAN			YES	MS4A2,synonymous_variant,p.=,ENST00000278888,NM_000139.4;MS4A2,synonymous_variant,p.=,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;							LOW	75/735		FCERB_HUMAN			Transcript			.	ENSP00000278888		CCDS7980.1			1	
SEC62	0	LGGM	GRCh37	3	169700543	169700543	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	54	38	.	.	ENST00000337002.4:c.300G>T	p.Met100Ile	p.M100I	ENST00000337002	NM_003262.3	100	atG/atT	0	1	1	UPI000007186C	0	NA	ENST00000337002		ENSG00000008952	11846		92	0.69		HGNC	p.M100I		SEC62		SNV							ENST00000337002	protein_coding	getma.org/?cm=var&var=hg19,3,169700543,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12443:SF9,hmmpanther:PTHR12443,Pfam_domain:PF03839		M/I		T	neutral	358/6568		getma.org/?cm=msa&ty=f&p=SEC62_HUMAN&rb=86&re=308&var=M100I	tolerated(0.22)	D3DNQ1_HUMAN			YES	SEC62,missense_variant,p.Met100Ile,ENST00000337002,NM_003262.3;SEC62,missense_variant,p.Met100Ile,ENST00000480708,;SEC62-AS1,intron_variant,,ENST00000479626,;SEC62,upstream_gene_variant,,ENST00000470355,;SEC62,3_prime_UTR_variant,,ENST00000469515,;SEC62,3_prime_UTR_variant,,ENST00000460513,;SEC62,3_prime_UTR_variant,,ENST00000487736,;SEC62,non_coding_transcript_exon_variant,,ENST00000481435,;SEC62,non_coding_transcript_exon_variant,,ENST00000497277,;SEC62,upstream_gene_variant,,ENST00000469890,;							MODERATE	300/1200	M100I	SEC62_HUMAN			Transcript		benign(0.072)	.	ENSP00000337688		CCDS3210.1			1	
PRRC2C	0	LGGM	GRCh37	1	171560765	171560765	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	105	44	.	.	ENST00000338920.4:c.8233T>C	p.Phe2745Leu	p.F2745L	ENST00000338920	NM_015172.3	2745	Ttc/Ctc	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		149	1.5		HGNC	p.F2680L		PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171560765,T,C&fts=all		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		F/L		C	low	8470/10355		getma.org/?cm=msa&ty=f&p=E7EPN9_HUMAN&rb=2567&re=2766&var=F2747L					YES	PRRC2C,missense_variant,p.Phe2747Leu,ENST00000367742,;PRRC2C,missense_variant,p.Phe2745Leu,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Phe2826Leu,ENST00000392078,;PRRC2C,missense_variant,p.Phe2680Leu,ENST00000426496,;PRRC2C,missense_variant,p.Phe1228Leu,ENST00000495585,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000498596,;PRRC2C,downstream_gene_variant,,ENST00000492811,;							MODERATE	8233/8454	F2747L	PRC2C_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000343629		CCDS1296.2			1	
ACOX2	0	LGGM	GRCh37	3	58494674	58494674	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	43	45	.	.	ENST00000302819.5:c.1929A>C	p.Gly643=	p.G643=	ENST00000302819	NM_003500.3	643	ggA/ggC	0	1	1	UPI000000DC36	0		ENST00000302819		ENSG00000168306	120		88			HGNC	p.G629G		ACOX2		SNV							ENST00000459701	protein_coding			Pfam_domain:PF01756,PIRSF_domain:PIRSF000168,Superfamily_domains:SSF47203		G		G		2221/2426				C9JY29_HUMAN,B4DPM1_HUMAN			YES	ACOX2,synonymous_variant,p.=,ENST00000302819,NM_003500.3;ACOX2,synonymous_variant,p.=,ENST00000459701,;ACOX2,non_coding_transcript_exon_variant,,ENST00000481527,;ACOX2,3_prime_UTR_variant,,ENST00000460921,;ACOX2,non_coding_transcript_exon_variant,,ENST00000467738,;RP11-359I18.1,upstream_gene_variant,,ENST00000412199,;							LOW	1929/2046		ACOX2_HUMAN			Transcript			.	ENSP00000307697		CCDS33775.1			1	
NINL	0	LGGM	GRCh37	20	25456709	25456709	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	13	47	.	.	ENST00000278886.6:c.3218A>G	p.Glu1073Gly	p.E1073G	ENST00000278886	NM_025176.4	1073	gAg/gGg	0	1	1	UPI0000206B64	0	NA	ENST00000278886		ENSG00000101004	29163		60	1.1		HGNC	p.E1073G		NINL		SNV							ENST00000278886	protein_coding	getma.org/?cm=var&var=hg19,20,25456709,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12		E/G		C	low	3292/4969		getma.org/?cm=msa&ty=f&p=NINL_HUMAN&rb=1065&re=1264&var=E1073G	deleterious(0.03)				YES	NINL,missense_variant,p.Glu1073Gly,ENST00000278886,NM_025176.4;NINL,intron_variant,,ENST00000422516,;NINL,intron_variant,,ENST00000336104,;							MODERATE	3218/4149	E1073G	NINL_HUMAN			Transcript		possibly_damaging(0.517)	.	ENSP00000278886		CCDS33452.1			1	
LRRIQ4	0	LGGM	GRCh37	3	169550970	169550970	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093892	H093892N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	58	53	.	.	ENST00000340806.6:c.1529A>T	p.Lys510Met	p.K510M	ENST00000340806	NM_001080460.1	510	aAg/aTg	0	1	1	UPI0000197671	0	NA	ENST00000340806		ENSG00000188306	34298		111	2.765		HGNC	p.K510M		LRRIQ4		SNV							ENST00000340806	protein_coding	getma.org/?cm=var&var=hg19,3,169550970,A,T&fts=all		hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF481,PROSITE_profiles:PS50096		K/M		T	medium	1529/1827		getma.org/?cm=msa&ty=f&p=LRIQ4_HUMAN&rb=504&re=533&var=K510M	deleterious(0)				YES	LRRIQ4,missense_variant,p.Lys510Met,ENST00000340806,NM_001080460.1;							MODERATE	1529/1683	K510M	LRIQ4_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000342188		CCDS46951.1			1	
LTN1	0	LGGM	GRCh37	21	30318504	30318504	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	34	57	.	.	ENST00000389194.2:c.3731A>C	p.Lys1244Thr	p.K1244T	ENST00000389194	NM_015565.2	1244	aAa/aCa	0	1		UPI00001A95E0	0	NA	ENST00000361371		ENSG00000198862	13082		91	0		HGNC	p.K1198T		LTN1		SNV							ENST00000361371	protein_coding	getma.org/?cm=var&var=hg19,21,30318504,T,G&fts=all		hmmpanther:PTHR12389		K/T		G	neutral	3673/7685		getma.org/?cm=msa&ty=f&p=LTN1_HUMAN&rb=1195&re=1394&var=K1198T	tolerated(0.05)	G1UI34_HUMAN				LTN1,missense_variant,p.Lys1244Thr,ENST00000389194,NM_015565.2;LTN1,missense_variant,p.Lys1198Thr,ENST00000361371,;							MODERATE	3593/5301	K1198T	LTN1_HUMAN			Transcript		benign(0.001)	.	ENSP00000354977					1	
OR6C2	0	LGGM	GRCh37	12	55846240	55846240	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	58	60	.	.	ENST00000322678.1:c.243C>T	p.Tyr81=	p.Y81=	ENST00000322678	NM_054105.1	81	taC/taT	0	1	1	UPI0000140EC9	0		ENST00000322678		ENSG00000179695	15436		118			HGNC	p.Y81Y		OR6C2		SNV							ENST00000322678	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26454:SF48,hmmpanther:PTHR26454,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Y		T		243/939							YES	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,;							LOW	243/939		OR6C2_HUMAN			Transcript			.	ENSP00000323606		CCDS31824.1			1	
ZNF665	0	LGGM	GRCh37	19	53668264	53668264	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093892	H093892N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	89	65	.	.	ENST00000396424.3:c.1479A>C	p.Lys493Asn	p.K493N	ENST00000396424	NM_024733.3	493	aaA/aaC	0	1		UPI000013F406	0	getma.org/pdb.php?prot=ZN665_HUMAN&from=407&to=432&var=K428N	ENST00000600412		ENSG00000197497	25885		154	3.12		HGNC	p.K428N		ZNF665		SNV							ENST00000600412	protein_coding	getma.org/?cm=var&var=hg19,19,53668264,T,G&fts=all		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		K/N		G	medium	1400/2273		getma.org/?cm=msa&ty=f&p=ZN665_HUMAN&rb=387&re=452&var=K428N	deleterious(0.01)					ZNF665,missense_variant,p.Lys428Asn,ENST00000600412,;ZNF665,missense_variant,p.Lys493Asn,ENST00000396424,NM_024733.3;CTD-2245F17.2,downstream_gene_variant,,ENST00000600257,;ZNF665,upstream_gene_variant,,ENST00000596564,;							MODERATE	1284/1842	K428N	ZN665_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000469154					1	
ARHGAP35	0	LGGM	GRCh37	19	47424292	47424292	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093892	H093892N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	99	75	.	.	ENST00000404338.3:c.2360G>T	p.Cys787Phe	p.C787F	ENST00000404338	NM_004491.4	787	tGt/tTt	0	1	1	UPI0000163F71	0	NA	ENST00000404338		ENSG00000160007	4591		174	2.36		HGNC	p.C787F		ARHGAP35		SNV							ENST00000404338	protein_coding	getma.org/?cm=var&var=hg19,19,47424292,G,T&fts=all		hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF26		C/F		T	medium	2360/8889		getma.org/?cm=msa&ty=f&p=RHG35_HUMAN&rb=601&re=800&var=C787F	deleterious(0)				YES	ARHGAP35,missense_variant,p.Cys787Phe,ENST00000404338,NM_004491.4;							MODERATE	2360/4500	C787F	RHG35_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000385720		CCDS46127.1			1	
NUDT19	0	LGGM	GRCh37	19	33200193	33200193	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093892	H093892N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093892N.bam, H093892T.bam	Illumina HiSeq	96	95	.	.	ENST00000397061.3:c.817C>T	p.Leu273Phe	p.L273F	ENST00000397061	NM_001105570.1	273	Ctc/Ttc	0	1	1	UPI00001D819F	0	NA	ENST00000397061		ENSG00000213965	32036		191	2.17		HGNC	p.L273F		NUDT19		SNV							ENST00000397061	protein_coding	getma.org/?cm=var&var=hg19,19,33200193,C,T&fts=all		hmmpanther:PTHR12318,hmmpanther:PTHR12318:SF0		L/F		T	medium	817/2967		getma.org/?cm=msa&ty=f&p=NUD19_HUMAN&rb=265&re=375&var=L273F	deleterious(0.01)				YES	NUDT19,missense_variant,p.Leu273Phe,ENST00000397061,NM_001105570.1;							MODERATE	817/1128	L273F	NUD19_HUMAN			Transcript		benign(0.004)	.	ENSP00000380251		CCDS42543.1			1	
SLC14A2	0	LGGM	GRCh37	18	43205792	43205792	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	12	2	.	.	ENST00000255226.6:c.295A>G	p.Thr99Ala	p.T99A	ENST00000255226	NM_007163.3	99	Acg/Gcg	0	1	1	UPI000013CE99	0	NA	ENST00000255226		ENSG00000132874	10919		14	2.455		HGNC	p.T99A		SLC14A2		SNV							ENST00000323329	protein_coding	getma.org/?cm=var&var=hg19,18,43205792,A,G&fts=all		hmmpanther:PTHR10464,hmmpanther:PTHR10464:SF2		T/A		G	medium	1111/4167		getma.org/?cm=msa&ty=f&p=UT2_HUMAN&rb=1&re=116&var=T99A	tolerated(0.05)				YES	SLC14A2,missense_variant,p.Thr99Ala,ENST00000255226,NM_007163.3;SLC14A2,missense_variant,p.Thr99Ala,ENST00000586448,NM_001242692.1;SLC14A2,missense_variant,p.Thr99Ala,ENST00000323329,;							MODERATE	295/2763	T99A	UT2_HUMAN			Transcript		possibly_damaging(0.709)	.	ENSP00000255226		CCDS11924.1			1	
SLC25A16	0	LGGM	GRCh37	10	70276590	70276590	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	23	2	.	.	ENST00000609923.1:c.141A>G	p.Gly47=	p.G47=	ENST00000609923	NM_152707.3	47	ggA/ggG	0	1	1	UPI00000704FB	0		ENST00000609923		ENSG00000122912	10986		25			HGNC	p.G47G		SLC25A16		SNV							ENST00000265870	protein_coding			Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,Prints_domain:PR00926,Prints_domain:PR00928,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF0		G		C		240/6529				B4DPV4_HUMAN			YES	SLC25A16,synonymous_variant,p.=,ENST00000609923,NM_152707.3;SLC25A16,5_prime_UTR_variant,,ENST00000539557,;SLC25A16,non_coding_transcript_exon_variant,,ENST00000265870,;SLC25A16,3_prime_UTR_variant,,ENST00000493963,;SLC25A16,3_prime_UTR_variant,,ENST00000491102,;							LOW	141/999		GDC_HUMAN			Transcript			.	ENSP00000476815		CCDS7280.1			1	
SENP2	0	LGGM	GRCh37	3	185337267	185337267	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	14	2	.	.	ENST00000296257.5:c.1423C>A	p.Arg475=	p.R475=	ENST00000296257	NM_021627.2	475	Cgg/Agg	0	1	1	UPI000007452F	0		ENST00000296257		ENSG00000163904	23116		16			HGNC	p.R138R		SENP2		SNV							ENST00000444509	protein_coding			Gene3D:1euvA02,Pfam_domain:PF02902,PROSITE_profiles:PS50600,hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF11,Superfamily_domains:SSF54001		R		A		1663/5717				J3KQD2_HUMAN,B4E2S4_HUMAN			YES	SENP2,synonymous_variant,p.=,ENST00000296257,NM_021627.2;SENP2,synonymous_variant,p.=,ENST00000427465,;SENP2,synonymous_variant,p.=,ENST00000545472,;SENP2,synonymous_variant,p.=,ENST00000444509,;SENP2,3_prime_UTR_variant,,ENST00000413407,;SENP2,non_coding_transcript_exon_variant,,ENST00000483005,;SENP2,downstream_gene_variant,,ENST00000478001,;							LOW	1423/1770		SENP2_HUMAN			Transcript			.	ENSP00000296257		CCDS33902.1			1	
ZFHX3	0	LGGM	GRCh37	16	72831521	72831521	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	37	3	.	.	ENST00000268489.5:c.5060G>T	p.Ser1687Ile	p.S1687I	ENST00000268489	NM_006885.3	1687	aGt/aTt	0	1	1	UPI00001AE937	0	NA	ENST00000268489		ENSG00000140836	777		40	0.805		HGNC	p.S1687I		ZFHX3		SNV							ENST00000268489	protein_coding	getma.org/?cm=var&var=hg19,16,72831521,C,A&fts=all		hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208		S/I		A	low	5733/16064		getma.org/?cm=msa&ty=f&p=ZFHX3_HUMAN&rb=1621&re=1820&var=S1687I		Q6TCJ2_HUMAN			YES	ZFHX3,missense_variant,p.Ser1687Ile,ENST00000268489,NM_006885.3;ZFHX3,missense_variant,p.Ser773Ile,ENST00000397992,NM_001164766.1;							MODERATE	5060/11112	S1687I	ZFHX3_HUMAN			Transcript		benign(0.243)	.	ENSP00000268489		CCDS10908.1			1	
PRAMEF11	0	LGGM	GRCh37	1	12888391	12888391	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	6	3	.	.	ENST00000535591.1:c.133C>T	p.Leu45Phe	p.L45F	ENST00000535591	NM_001146344.1	45	Ctt/Ttt	0	1	1	UPI00001D7634	0	NA	ENST00000535591		ENSG00000204513	14086		9	2.61		HGNC	p.L45F		PRAMEF11		SNV							ENST00000437584	protein_coding	getma.org/?cm=var&var=hg19,1,12888391,G,A&fts=all		hmmpanther:PTHR14224:SF19,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286		L/F		A	medium	329/1839		getma.org/?cm=msa&ty=f&p=PRA11_HUMAN&rb=1&re=200&var=L45F	deleterious(0)				YES	PRAMEF11,missense_variant,p.Leu45Phe,ENST00000535591,NM_001146344.1;PRAMEF11,missense_variant,p.Leu45Phe,ENST00000437584,;							MODERATE	133/1311	L45F	PRA11_HUMAN			Transcript		possibly_damaging(0.897)	.	ENSP00000439551		CCDS53268.1			1	
NUP93	0	LGGM	GRCh37	16	56866211	56866211	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	37	3	.	.	ENST00000308159.5:c.1256A>G	p.Asn419Ser	p.N419S	ENST00000308159	NM_014669.4	419	aAc/aGc	0	1	1	UPI0000044E0C	0	getma.org/pdb.php?prot=NUP93_HUMAN&from=202&to=804&var=N419S	ENST00000308159		ENSG00000102900	28958		40	-1.225		HGNC	p.N212S		NUP93		SNV							ENST00000563858	protein_coding	getma.org/?cm=var&var=hg19,16,56866211,A,G&fts=all		Pfam_domain:PF04097,hmmpanther:PTHR11225		N/S		G	neutral	1377/2741		getma.org/?cm=msa&ty=f&p=NUP93_HUMAN&rb=202&re=804&var=N419S	tolerated(0.61)	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN			YES	NUP93,missense_variant,p.Asn296Ser,ENST00000564887,NM_001242795.1;NUP93,missense_variant,p.Asn296Ser,ENST00000542526,NM_001242796.1;NUP93,missense_variant,p.Asn419Ser,ENST00000569842,;NUP93,missense_variant,p.Asn419Ser,ENST00000308159,NM_014669.4;NUP93,missense_variant,p.Asn212Ser,ENST00000563858,;NUP93,downstream_gene_variant,,ENST00000567641,;NUP93,upstream_gene_variant,,ENST00000563405,;NUP93,non_coding_transcript_exon_variant,,ENST00000563437,;							MODERATE	1256/2460	N419S	NUP93_HUMAN			Transcript		benign(0.008)	.	ENSP00000310668		CCDS10769.1			1	
TMEM184A	0	LGGM	GRCh37	7	1586662	1586663	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC	novel	by Submitter	H093904	H093904N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	2	3	.	.	ENST00000297477.5:c.1167_1168insGGC	p.Pro389_Ser390insGly	p.P389_S390insG	ENST00000297477	NM_001097620.1	389	-/GGC	0	1	1	UPI000013E413	0		ENST00000297477		ENSG00000164855	28797		5			HGNC	p.S390delinsGS	TMP_ESP_7_1586663_1586662,COSM1449635	TMEM184A		insertion	GCC:0.4684					0,1	ENST00000297477	protein_coding			hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20		-/G	GCC:0.4789	GCC		1484-1485/6276				C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN			YES	TMEM184A,inframe_insertion,p.Pro389_Ser390insGly,ENST00000297477,NM_001097620.1;MAFK,downstream_gene_variant,,ENST00000343242,NM_002360.3;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,;MAFK,downstream_gene_variant,,ENST00000403150,;TMEM184A,downstream_gene_variant,,ENST00000474813,;TMEM184A,downstream_gene_variant,,ENST00000421923,;					0,1		MODERATE	1167-1168/1242		T184A_HUMAN			Transcript			.	ENSP00000297477		CCDS43537.1			1	
DHX9	0	LGGM	GRCh37	1	182827748	182827748	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	49	3	.	.	ENST00000367549.3:c.873A>G	p.Gln291=	p.Q291=	ENST00000367549	NM_001357.4	291	caA/caG	0	1	1	UPI00001AEF15	0		ENST00000367549		ENSG00000135829	2750		52			HGNC	p.Q291Q		DHX9		SNV							ENST00000367549	protein_coding			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF84		Q		G		983/4240							YES	DHX9,synonymous_variant,p.=,ENST00000367549,NM_001357.4;DHX9,downstream_gene_variant,,ENST00000483416,;DHX9,upstream_gene_variant,,ENST00000477802,;DHX9,downstream_gene_variant,,ENST00000479271,;							LOW	873/3813		DHX9_HUMAN			Transcript			.	ENSP00000356520		CCDS41444.1			1	
ADAM21	0	LGGM	GRCh37	14	70925750	70925750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	39	3	.	.	ENST00000603540.1:c.1534C>A	p.Gln512Lys	p.Q512K	ENST00000603540	NM_003813.3	512	Cag/Aag	0	1	1	UPI000013D756	0	getma.org/pdb.php?prot=ADA21_HUMAN&from=492&to=607&var=Q512K	ENST00000603540		ENSG00000139985	200		42	-0.055		HGNC	p.Q512K		ADAM21		SNV							ENST00000267499	protein_coding	getma.org/?cm=var&var=hg19,14,70925750,C,A&fts=all		SMART_domains:SM00608,Pfam_domain:PF08516,hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905		Q/K		A	neutral	1792/2658		getma.org/?cm=msa&ty=f&p=ADA21_HUMAN&rb=492&re=607&var=Q512K	tolerated(0.28)				YES	ADAM21,missense_variant,p.Gln512Lys,ENST00000603540,NM_003813.3;ADAM21,missense_variant,p.Gln512Lys,ENST00000267499,;RP11-486O13.4,intron_variant,,ENST00000556646,;							MODERATE	1534/2169	Q512K	ADA21_HUMAN			Transcript		benign(0.004)	.	ENSP00000474385		CCDS9804.1			1	
TMEM104	0	LGGM	GRCh37	17	72781651	72781651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	36	3	.	.	ENST00000335464.5:c.76G>A	p.Val26Met	p.V26M	ENST00000335464	NM_017728.3	26	Gtg/Atg	0	1	1	UPI00002001C9	0	NA	ENST00000335464		ENSG00000109066	25984		39	2.885		HGNC	p.V26M	rs748271016	TMEM104		SNV				9.61E-05			ENST00000335464	protein_coding	getma.org/?cm=var&var=hg19,17,72781651,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR16189:SF0,hmmpanther:PTHR16189,Pfam_domain:PF01490		V/M		A	medium	238/4745		getma.org/?cm=msa&ty=f&p=TM104_HUMAN&rb=13&re=76&var=V26M	deleterious(0)				YES	TMEM104,missense_variant,p.Val26Met,ENST00000335464,NM_017728.3;TMEM104,missense_variant,p.Val26Met,ENST00000582330,;TMEM104,missense_variant,p.Val26Met,ENST00000582773,;TMEM104,intron_variant,,ENST00000417024,;TMEM104,intron_variant,,ENST00000578764,;TMEM104,non_coding_transcript_exon_variant,,ENST00000584246,;							MODERATE	76/1491	V26M	TM104_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000334849	8.24E-06	CCDS32723.1			1	
IFITM3	0	LGGM	GRCh37	11	320649	320649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	68	5	.	.	ENST00000399808.4:c.165C>T	p.Pro55=	p.P55=	ENST00000399808	NM_021034.2	55	ccC/ccT	0	1	1	UPI00000465C0	0		ENST00000399808		ENSG00000142089	5414	0.122	73			HGNC	p.P34P	rs11553885,COSM42692	IFITM3	0.21	SNV			1	0.158		0,1	ENST00000526811	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF8		P		A		402/808	0.0347			E9PS44_HUMAN			YES	IFITM3,synonymous_variant,p.=,ENST00000399808,NM_021034.2;IFITM3,synonymous_variant,p.=,ENST00000602735,;IFITM3,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000531688,;	0.283				0,1		LOW	165/402		IFM3_HUMAN	0.0141		Transcript			common_variant	ENSP00000382707	0.0925	CCDS41585.1	0.0837		1	
NFE2L2	0	LGGM	GRCh37	2	178098997	178098997	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	17	4	.	.	ENST00000397062.3:c.48C>A	p.Asp16Glu	p.D16E	ENST00000397062	NM_006164.4	16	gaC/gaA	0	1	1	UPI000012FFD0	0	NA	ENST00000397062		ENSG00000116044	7782		21	2.34		HGNC	p.D15E		NFE2L2		SNV							ENST00000586532	protein_coding	getma.org/?cm=var&var=hg19,2,178098997,G,T&fts=all		hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF3		D/E		T	medium	603/2853		getma.org/?cm=msa&ty=f&p=NF2L2_HUMAN&rb=1&re=200&var=D16E	deleterious(0.02)	Q9BZF8_HUMAN,K7ER33_HUMAN,C9J1A8_HUMAN,C9J0Y1_HUMAN			YES	NFE2L2,missense_variant,p.Asp16Glu,ENST00000397062,NM_006164.4;NFE2L2,missense_variant,p.Asp15Glu,ENST00000586532,;NFE2L2,missense_variant,p.Asp16Glu,ENST00000430047,;NFE2L2,splice_region_variant,,ENST00000464747,;NFE2L2,splice_region_variant,,ENST00000397063,NM_001145412.2,NM_001145413.2;NFE2L2,splice_region_variant,,ENST00000446151,;NFE2L2,splice_region_variant,,ENST00000423513,;NFE2L2,splice_region_variant,,ENST00000421929,;NFE2L2,splice_region_variant,,ENST00000448782,;NFE2L2,splice_region_variant,,ENST00000449627,;NFE2L2,splice_region_variant,,ENST00000588123,;NFE2L2,upstream_gene_variant,,ENST00000458603,;NFE2L2,splice_region_variant,,ENST00000477534,;NFE2L2,splice_region_variant,,ENST00000462023,;DNAJC19P5,upstream_gene_variant,,ENST00000443295,;							MODERATE	48/1818	D16E	NF2L2_HUMAN			Transcript		benign(0.242)	.	ENSP00000380252		CCDS42782.1			1	
RNF213	0	LGGM	GRCh37	17	78318676	78318676	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	35	4	.	.	ENST00000582970.1:c.6541G>T	p.Asp2181Tyr	p.D2181Y	ENST00000582970	NM_001256071.1	2181	Gac/Tac	0	1	1	UPI0001D3BDB1	0	NA	ENST00000582970		ENSG00000173821	14539		39	2.33		HGNC	p.D254Y		RNF213		SNV			1				ENST00000336301	protein_coding	getma.org/?cm=var&var=hg19,17,78318676,G,T&fts=all		hmmpanther:PTHR22605,hmmpanther:PTHR22605:SF5		D/Y		T	medium	6684/21055		getma.org/?cm=msa&ty=f&p=RN213_HUMAN&rb=2109&re=2308&var=D2181Y		H3BLU6_HUMAN			YES	RNF213,missense_variant,p.Asp2181Tyr,ENST00000582970,NM_001256071.1;RNF213,missense_variant,p.Asp2230Tyr,ENST00000508628,;RNF213,missense_variant,p.Asp254Tyr,ENST00000336301,;							MODERATE	6541/15624	D2181Y	RN213_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000464087		CCDS58606.1			1	
PRKCG	0	LGGM	GRCh37	19	54392929	54392929	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	53	4	.	.	ENST00000263431.3:c.323A>G	p.Tyr108Cys	p.Y108C	ENST00000263431	NM_002739.3	108	tAc/tGc	0	1	1	UPI000000DC69	0	getma.org/pdb.php?prot=KPCG_HUMAN&from=101&to=153&var=Y108C	ENST00000263431		ENSG00000126583	9402		57	3.91		HGNC	p.Y108C		PRKCG		SNV			1				ENST00000536044	protein_coding	getma.org/?cm=var&var=hg19,19,54392929,A,G&fts=all		Superfamily_domains:SSF57889,PIRSF_domain:PIRSF000550,SMART_domains:SM00109,Pfam_domain:PF00130,Gene3D:3.30.60.20,PROSITE_patterns:PS00479,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF64,PROSITE_profiles:PS50081		Y/C		G	high	605/3133		getma.org/?cm=msa&ty=f&p=KPCG_HUMAN&rb=101&re=153&var=Y108C	deleterious(0)	M0R0Z4_HUMAN,M0R0I9_HUMAN,H7BZ60_HUMAN			YES	PRKCG,missense_variant,p.Tyr108Cys,ENST00000263431,NM_002739.3;PRKCG,missense_variant,p.Tyr108Cys,ENST00000540413,;PRKCG,missense_variant,p.Tyr108Cys,ENST00000536044,;PRKCG,5_prime_UTR_variant,,ENST00000474397,;PRKCG,5_prime_UTR_variant,,ENST00000479081,;PRKCG,5_prime_UTR_variant,,ENST00000419486,;PRKCG,intron_variant,,ENST00000542049,;							MODERATE	323/2094	Y108C	KPCG_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000263431		CCDS12867.1			1	
PCSK5	0	LGGM	GRCh37	9	78965825	78965825	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	47	4	.	.	ENST00000545128.1:c.4967G>A	p.Gly1656Glu	p.G1656E	ENST00000545128	NM_001190482.1	1656	gGg/gAg	0	1	1	UPI0001DAD817	0	getma.org/pdb.php?prot=PCSK5_HUMAN&from=1512&to=1711&var=G1656E	ENST00000545128		ENSG00000099139	8747		51	3.1		HGNC	p.G1656E		PCSK5		SNV							ENST00000545128	protein_coding	getma.org/?cm=var&var=hg19,9,78965825,G,A&fts=all		Gene3D:2.10.220.10,hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF327,SMART_domains:SM00261,Superfamily_domains:SSF57184		G/E		A	medium	5505/9538		getma.org/?cm=msa&ty=f&p=PCSK5_HUMAN&rb=1512&re=1711&var=G1656E	deleterious(0.02)	I0EZ71_HUMAN			YES	PCSK5,missense_variant,p.Gly1656Glu,ENST00000545128,NM_001190482.1;PCSK5,missense_variant,p.Gly1356Glu,ENST00000424854,;							MODERATE	4967/5583	G1656E	PCSK5_HUMAN			Transcript		benign(0.223)	.	ENSP00000446280		CCDS55320.1			1	
CNBP	0	LGGM	GRCh37	3	128889925	128889925	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	37	4	.	.	ENST00000441626.2:c.419A>G	p.Tyr140Cys	p.Y140C	ENST00000441626		140	tAt/tGt	0	1		UPI000000089B	0	getma.org/pdb.php?prot=CNBP_HUMAN&from=135&to=152&var=Y138C	ENST00000422453		ENSG00000169714	13164		41	2.74		HGNC	p.Y133C		CNBP		SNV			1				ENST00000446936	protein_coding	getma.org/?cm=var&var=hg19,3,128889925,T,C&fts=all		Gene3D:4.10.60.10,Pfam_domain:PF00098,PROSITE_profiles:PS50158,hmmpanther:PTHR23002,hmmpanther:PTHR23002:SF53,SMART_domains:SM00343,Superfamily_domains:SSF57756		Y/C		C	medium	574/1664		getma.org/?cm=msa&ty=f&p=CNBP_HUMAN&rb=115&re=172&var=Y138C	deleterious(0)	Q6T598_HUMAN				CNBP,missense_variant,p.Tyr138Cys,ENST00000422453,NM_003418.4,NM_001127193.1,NM_001127192.1;CNBP,missense_variant,p.Tyr139Cys,ENST00000451728,;CNBP,missense_variant,p.Tyr131Cys,ENST00000502976,NM_001127194.1,NM_001127196.1,NM_001127195.1;CNBP,missense_variant,p.Tyr133Cys,ENST00000446936,;CNBP,missense_variant,p.Tyr128Cys,ENST00000504813,;CNBP,missense_variant,p.Tyr121Cys,ENST00000500450,;CNBP,missense_variant,p.Tyr140Cys,ENST00000441626,;CNBP,downstream_gene_variant,,ENST00000512338,;CNBP,non_coding_transcript_exon_variant,,ENST00000502372,;CNBP,downstream_gene_variant,,ENST00000507573,;							MODERATE	413/534	Y138C	CNBP_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000410619		CCDS3056.1			1	
SNTG2	0	LGGM	GRCh37	2	1312294	1312294	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	48	4	.	.	ENST00000308624.5:c.1313G>A	p.Gly438Glu	p.G438E	ENST00000308624	NM_018968.3	438	gGa/gAa	0	1	1	UPI0000456D73	0	NA	ENST00000308624		ENSG00000172554	13741		52	2.395		HGNC	p.G438E		SNTG2		SNV							ENST00000308624	protein_coding	getma.org/?cm=var&var=hg19,2,1312294,G,A&fts=all		hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3		G/E		A	medium	1442/1888		getma.org/?cm=msa&ty=f&p=SNTG2_HUMAN&rb=354&re=539&var=G438E	deleterious(0)				YES	SNTG2,missense_variant,p.Gly438Glu,ENST00000308624,NM_018968.3;SNTG2,missense_variant,p.Gly311Glu,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;							MODERATE	1313/1620	G438E	SNTG2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311837		CCDS46220.1			1	
MTSS1	0	LGGM	GRCh37	8	125580788	125580788	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	31	4	.	.	ENST00000518547.1:c.461-11G>C		*154*	ENST00000518547	NM_014751.4			0	1	1	UPI000019B3D8	0		ENST00000518547		ENSG00000170873	20443		35			HGNC	p.L40L		MTSS1		SNV							ENST00000524090	protein_coding							G		-/4944				E5RJX3_HUMAN			YES	MTSS1,synonymous_variant,p.=,ENST00000524090,;MTSS1,intron_variant,,ENST00000518547,NM_014751.4;MTSS1,intron_variant,,ENST00000354184,;MTSS1,intron_variant,,ENST00000378017,NM_001282974.1;MTSS1,intron_variant,,ENST00000325064,NM_001282971.1;MTSS1,intron_variant,,ENST00000431961,;MTSS1,intron_variant,,ENST00000522118,;MTSS1,intron_variant,,ENST00000522162,;MTSS1,upstream_gene_variant,,ENST00000395508,;MTSS1,upstream_gene_variant,,ENST00000519168,;NDUFB9,downstream_gene_variant,,ENST00000522532,;MTSS1,upstream_gene_variant,,ENST00000523179,;MTSS1,upstream_gene_variant,,ENST00000522722,;MTSS1,upstream_gene_variant,,ENST00000519226,;							MODIFIER	-/2268		MTSS1_HUMAN			Transcript			.	ENSP00000429064		CCDS6353.1			1	
HDX	0	LGGM	GRCh37	X	83730317	83730317	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	22	4	.	.	ENST00000297977.5:c.89G>A	p.Cys30Tyr	p.C30Y	ENST00000297977	NM_001177479.1	30	tGc/tAc	0	1	1	UPI00001A9DA4	0	getma.org/pdb.php?prot=HDX_HUMAN&from=1&to=68&var=C30Y	ENST00000297977		ENSG00000165259	26411		26	1.955		HGNC	p.C30Y		HDX		SNV							ENST00000297977	protein_coding	getma.org/?cm=var&var=hg19,X,83730317,C,T&fts=all		Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,hmmpanther:PTHR11636:SF80,hmmpanther:PTHR11636		C/Y		T	medium	201/6200		getma.org/?cm=msa&ty=f&p=HDX_HUMAN&rb=1&re=68&var=C30Y	deleterious(0)	E2QRN0_HUMAN			YES	HDX,missense_variant,p.Cys30Tyr,ENST00000297977,NM_001177479.1,NM_144657.4;HDX,missense_variant,p.Cys30Tyr,ENST00000373177,;HDX,intron_variant,,ENST00000506585,NM_001177478.1;HDX,intron_variant,,ENST00000449553,;							MODERATE	89/2073	C30Y	HDX_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000297977		CCDS35342.1			1	
PCIF1	0	LGGM	GRCh37	20	44569572	44569572	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	54	4	.	.	ENST00000372409.3:c.512C>T	p.Pro171Leu	p.P171L	ENST00000372409	NM_022104.3	171	cCc/cTc	0	1	1	UPI000000D717	0	NA	ENST00000372409		ENSG00000100982	16200		58	1.265		HGNC	p.P171L		PCIF1		SNV							ENST00000372409	protein_coding	getma.org/?cm=var&var=hg19,20,44569572,C,T&fts=all		hmmpanther:PTHR21727		P/L		T	low	876/2747		getma.org/?cm=msa&ty=f&p=PCIF1_HUMAN&rb=76&re=275&var=P171L	deleterious(0.04)				YES	PCIF1,missense_variant,p.Pro171Leu,ENST00000372409,NM_022104.3;PCIF1,upstream_gene_variant,,ENST00000479348,;							MODERATE	512/2115	P171L	PCIF1_HUMAN			Transcript		benign(0.168)	.	ENSP00000361486		CCDS13388.1			1	
CPNE4	0	LGGM	GRCh37	3	131254174	131254174	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	44	5	.	.	ENST00000512055.1:c.1540-1G>A		p.X514_splice	ENST00000512055				0	1		UPI0000127C14	0		ENST00000429747		ENSG00000196353	2317		49			HGNC	-		CPNE4		SNV							ENST00000512055	protein_coding							T		-/2564				Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN				CPNE4,splice_acceptor_variant,,ENST00000512055,;CPNE4,splice_acceptor_variant,,ENST00000429747,NM_130808.1;CPNE4,splice_acceptor_variant,,ENST00000511604,;CPNE4,splice_acceptor_variant,,ENST00000512332,;CPNE4,splice_acceptor_variant,,ENST00000502818,;CPNE4,splice_acceptor_variant,,ENST00000503204,;CPNE4,splice_acceptor_variant,,ENST00000514439,;CPNE4,splice_acceptor_variant,,ENST00000515418,;RP11-517B11.6,downstream_gene_variant,,ENST00000512197,;							HIGH	1540/1674		CPNE4_HUMAN			Transcript			.	ENSP00000411904		CCDS3072.1			1	
MYH8	0	LGGM	GRCh37	17	10296320	10296320	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	95	5	.	.	ENST00000403437.2:c.5293-2A>T		p.X1765_splice	ENST00000403437	NM_002472.2			0	1	1	UPI000012FB7D	0		ENST00000403437		ENSG00000133020	7578		100			HGNC	-		MYH8		SNV			1				ENST00000403437	protein_coding							A		-/6041							YES	MYH8,splice_acceptor_variant,,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							HIGH	5293/5814		MYH8_HUMAN			Transcript			.	ENSP00000384330		CCDS11153.1			1	
POT1	0	LGGM	GRCh37	7	124491959	124491959	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	32	5	.	.	ENST00000357628.3:c.916A>G	p.Ile306Val	p.I306V	ENST00000357628	NM_015450.2	306	Atc/Gtc	0	1	1	UPI0000073E3F	0	NA	ENST00000357628		ENSG00000128513	17284		37	1.04		HGNC	p.I306V		POT1		SNV			1				ENST00000357628	protein_coding	getma.org/?cm=var&var=hg19,7,124491959,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14513,hmmpanther:PTHR14513:SF2		I/V		C	low	1515/4080		getma.org/?cm=msa&ty=f&p=POTE1_HUMAN&rb=142&re=341&var=I306V	tolerated(0.82)	C9JPG9_HUMAN,A8MTK3_HUMAN			YES	POT1,missense_variant,p.Ile306Val,ENST00000357628,NM_015450.2;POT1,missense_variant,p.Ile175Val,ENST00000393329,NM_001042594.1;POT1,missense_variant,p.Ile104Val,ENST00000610141,;POT1,missense_variant,p.Ile306Val,ENST00000609106,;POT1,missense_variant,p.Ile306Val,ENST00000608057,;POT1,missense_variant,p.Ile306Val,ENST00000607932,;POT1,downstream_gene_variant,,ENST00000608126,;							MODERATE	916/1905	I306V	POTE1_HUMAN			Transcript		benign(0.001)	.	ENSP00000350249		CCDS5793.1			1	
CNGA4	0	LGGM	GRCh37	11	6261731	6261731	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	55	5	.	.	ENST00000379936.2:c.707C>G	p.Pro236Arg	p.P236R	ENST00000379936	NM_001037329.3	236	cCg/cGg	0	1	1	UPI000004C7EC	0	NA	ENST00000379936		ENSG00000132259	2152		60	4.04		HGNC	p.P236R		CNGA4		SNV							ENST00000379936	protein_coding	getma.org/?cm=var&var=hg19,11,6261731,C,G&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF388,Superfamily_domains:SSF81324		P/R		G	high	822/1863		getma.org/?cm=msa&ty=f&p=CNGA4_HUMAN&rb=71&re=265&var=P236R	deleterious(0)				YES	CNGA4,missense_variant,p.Pro236Arg,ENST00000379936,NM_001037329.3;CNGA4,intron_variant,,ENST00000533426,;							MODERATE	707/1728	P236R	CNGA4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000369268		CCDS31408.1			1	
GALM	0	LGGM	GRCh37	2	38903152	38903152	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	46	5	.	.	ENST00000272252.5:c.289C>T	p.Leu97=	p.L97=	ENST00000272252	NM_138801.2	97	Ctg/Ttg	0	1	1	UPI00000702E1	0		ENST00000272252		ENSG00000143891	24063		51			HGNC	p.L97L		GALM		SNV							ENST00000272252	protein_coding			hmmpanther:PTHR10091,hmmpanther:PTHR10091:SF0,Gene3D:2.70.98.10,Pfam_domain:PF01263,PIRSF_domain:PIRSF005096,Superfamily_domains:SSF74650		L		T		541/2484							YES	GALM,synonymous_variant,p.=,ENST00000272252,NM_138801.2;GALM,intron_variant,,ENST00000410063,;AC074366.3,upstream_gene_variant,,ENST00000446277,;GALM,synonymous_variant,p.=,ENST00000444351,;GALM,synonymous_variant,p.=,ENST00000427858,;							LOW	289/1029		GALM_HUMAN			Transcript			.	ENSP00000272252		CCDS1797.1			1	
SDK2	0	LGGM	GRCh37	17	71335043	71335043	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	42	6	.	.	ENST00000392650.3:c.6202C>T	p.Gln2068Ter	p.Q2068*	ENST00000392650	NM_001144952.1	2068	Cag/Tag	0	1	1	UPI0000E5A088	0	NA	ENST00000392650		ENSG00000069188	19308		48	0		HGNC	p.Q2049X		SDK2		SNV							ENST00000388726	protein_coding	getma.org/?cm=var&var=hg19,17,71335043,G,A&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF37		Q/*		A	NA	6203/10723		NA					YES	SDK2,stop_gained,p.Gln2068Ter,ENST00000392650,NM_001144952.1;SDK2,stop_gained,p.Gln2049Ter,ENST00000388726,;SDK2,stop_gained,p.Gln1225Ter,ENST00000424778,;SDK2,non_coding_transcript_exon_variant,,ENST00000410094,;							HIGH	6202/6519	Q2068*	SDK2_HUMAN			Transcript			.	ENSP00000376421		CCDS45769.1			1	
NCAM2	0	LGGM	GRCh37	21	22656612	22656612	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	44	6	.	.	ENST00000400546.1:c.229C>T	p.Arg77Trp	p.R77W	ENST00000400546	NM_004540.3	77	Cgg/Tgg	0	1	1	UPI00001A3703	0	getma.org/pdb.php?prot=NCAM2_HUMAN&from=21&to=111&var=R77W	ENST00000400546		ENSG00000154654	7657		50	0.8		HGNC	p.R77W	rs576610818,COSM1413461	NCAM2	6.08E-05	SNV						0,1	ENST00000400546	protein_coding	getma.org/?cm=var&var=hg19,21,22656612,C,T&fts=all	T:0	Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF35,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/W		T	neutral	478/8135		getma.org/?cm=msa&ty=f&p=NCAM2_HUMAN&rb=21&re=111&var=R77W	deleterious(0.03)	D3DSC5_HUMAN	T:0	T:0	YES	NCAM2,missense_variant,p.Arg77Trp,ENST00000400546,NM_004540.3;NCAM2,missense_variant,p.Arg102Trp,ENST00000535285,;NCAM2,intron_variant,,ENST00000284894,;NCAM2,non_coding_transcript_exon_variant,,ENST00000486367,;		T:0.0002			0,1		MODERATE	229/2514	R77W	NCAM2_HUMAN		T:0	Transcript		benign(0.332)	.	ENSP00000383392	8.28E-06	CCDS42910.1		T:0.001	1	
HSPA4	0	LGGM	GRCh37	5	132425302	132425302	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	32	6	.	.	ENST00000304858.2:c.1293T>G	p.Val431=	p.V431=	ENST00000304858	NM_002154.3	431	gtT/gtG	0	1	1	UPI000013E9D5	0		ENST00000304858		ENSG00000170606	5237		38			HGNC	p.V431V		HSPA4		SNV							ENST00000304858	protein_coding			hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF136,Gene3D:2.60.34.10,Pfam_domain:PF00012,Superfamily_domains:SSF100920		V		G		1582/4825				Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN			YES	HSPA4,synonymous_variant,p.=,ENST00000304858,NM_002154.3;HSPA4,downstream_gene_variant,,ENST00000504328,;							LOW	1293/2523		HSP74_HUMAN			Transcript			.	ENSP00000302961		CCDS4166.1			1	
CLOCK	0	LGGM	GRCh37	4	56316284	56316284	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	22	6	.	.	ENST00000309964.4:c.1322C>G	p.Ser441Cys	p.S441C	ENST00000309964	NM_004898.3	441	tCt/tGt	0	1	1	UPI0000031303	0	NA	ENST00000309964		ENSG00000134852	2082		28	2.525		HGNC	p.S441C		CLOCK		SNV							ENST00000309964	protein_coding	getma.org/?cm=var&var=hg19,4,56316284,G,C&fts=all		hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF2,Low_complexity_(Seg):seg		S/C		C	medium	1573/10304		getma.org/?cm=msa&ty=f&p=CLOCK_HUMAN&rb=396&re=844&var=S441C	deleterious(0.03)	C9JK03_HUMAN			YES	CLOCK,missense_variant,p.Ser441Cys,ENST00000309964,NM_004898.3;CLOCK,missense_variant,p.Ser441Cys,ENST00000381322,NM_001267843.1;CLOCK,missense_variant,p.Ser441Cys,ENST00000513440,;TMEM165,intron_variant,,ENST00000608091,;TMEM165,intron_variant,,ENST00000506103,;CLOCK,upstream_gene_variant,,ENST00000511124,;CLOCK,downstream_gene_variant,,ENST00000506747,;							MODERATE	1322/2541	S441C	CLOCK_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000308741		CCDS3500.1			1	
ATOSA	0	LGGM	GRCh37	15	52901096	52901096	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	125	6	.	.	ENST00000261844.7:c.2015A>G	p.Asn672Ser	p.N672S	ENST00000261844	NM_019600.2	672	aAt/aGt	0	1	1	UPI00001C1F8D	0	NA	ENST00000261844		ENSG00000047346	25609		131	1.67		HGNC	p.N679S	rs772571646	FAM214A	6.07E-05	SNV							ENST00000546305	protein_coding	getma.org/?cm=var&var=hg19,15,52901096,T,C&fts=all		hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF13		N/S		C	low	2168/4217		getma.org/?cm=msa&ty=f&p=F214A_HUMAN&rb=601&re=800&var=N672S	tolerated(0.13)	Q6DKH7_HUMAN,Q658Z0_HUMAN,H3BUJ2_HUMAN,H3BU00_HUMAN,H3BTD0_HUMAN,H3BSJ2_HUMAN,H3BQ29_HUMAN,H0Y3Q9_HUMAN			YES	FAM214A,missense_variant,p.Asn672Ser,ENST00000261844,NM_019600.2;FAM214A,missense_variant,p.Asn679Ser,ENST00000546305,NM_001286495.1;FAM214A,missense_variant,p.Asn584Ser,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,missense_variant,p.Asn672Ser,ENST00000534964,;FAM214A,upstream_gene_variant,,ENST00000566948,;FAM214A,upstream_gene_variant,,ENST00000568668,;FAM214A,upstream_gene_variant,,ENST00000570204,;							MODERATE	2015/3231	N672S	F214A_HUMAN			Transcript		benign(0.011)	.	ENSP00000261844	8.28E-06	CCDS45263.1			1	
TTN	0	LGGM	GRCh37	2	179453583	179453583	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	94	6	.	.	ENST00000589042.1:c.62869G>A	p.Ala20957Thr	p.A20957T	ENST00000589042	NM_001267550.1	20957	Gcc/Acc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=19310&to=19323&var=A19316T	ENST00000591111		ENSG00000155657	12403		100	1.77		HGNC	p.A12017T		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179453583,C,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF49265		A/T		T	low	58171/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=19280&re=19353&var=A19316T		C9JQJ2_HUMAN				TTN,missense_variant,p.Ala20957Thr,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala19316Thr,ENST00000591111,;TTN,missense_variant,p.Ala18389Thr,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala12084Thr,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala12017Thr,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala11892Thr,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,;							MODERATE	57946/103053	A19316T	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
FCRL3	0	LGGM	GRCh37	1	157648737	157648737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	52	7	.	.	ENST00000368184.3:c.2053C>A	p.His685Asn	p.H685N	ENST00000368184	NM_052939.3	685	Cat/Aat	0	1	1	UPI000006D60E	0	NA	ENST00000368184		ENSG00000160856	18506		59	-0.1		HGNC	p.H685N		FCRL3		SNV			1				ENST00000368186	protein_coding	getma.org/?cm=var&var=hg19,1,157648737,G,T&fts=all		hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF35		H/N		T	neutral	2345/4725		getma.org/?cm=msa&ty=f&p=FCRL3_HUMAN&rb=549&re=734&var=H685N	tolerated(0.92)	R4GNJ6_HUMAN			YES	FCRL3,missense_variant,p.His685Asn,ENST00000368184,NM_052939.3;FCRL3,missense_variant,p.His685Asn,ENST00000368186,;FCRL3,non_coding_transcript_exon_variant,,ENST00000473231,;FCRL3,non_coding_transcript_exon_variant,,ENST00000480682,;FCRL3,non_coding_transcript_exon_variant,,ENST00000494724,;FCRL3,non_coding_transcript_exon_variant,,ENST00000468507,;FCRL3,upstream_gene_variant,,ENST00000457799,;FCRL3,missense_variant,p.His691Asn,ENST00000492769,;FCRL3,missense_variant,p.His685Asn,ENST00000485028,;FCRL3,missense_variant,p.His590Asn,ENST00000477837,;							MODERATE	2053/2205	H685N	FCRL3_HUMAN			Transcript		benign(0.001)	.	ENSP00000357167		CCDS1167.1			1	
GTF3C3	0	LGGM	GRCh37	2	197650278	197650278	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	27	7	.	.	ENST00000263956.3:c.928A>G	p.Ile310Val	p.I310V	ENST00000263956	NM_012086.4	310	Att/Gtt	0	1	1	UPI0000070C01	0	NA	ENST00000263956		ENSG00000119041	4666		34	1.39		HGNC	p.I310V		GTF3C3		SNV							ENST00000263956	protein_coding	getma.org/?cm=var&var=hg19,2,197650278,T,C&fts=all		Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR23082,Superfamily_domains:SSF48452		I/V		C	low	1018/4282		getma.org/?cm=msa&ty=f&p=TF3C3_HUMAN&rb=284&re=455&var=I310V	deleterious(0.02)				YES	GTF3C3,missense_variant,p.Ile310Val,ENST00000263956,NM_012086.4;GTF3C3,missense_variant,p.Ile310Val,ENST00000409364,NM_001206774.1;GTF3C3,upstream_gene_variant,,ENST00000448087,;GTF3C3,non_coding_transcript_exon_variant,,ENST00000470386,;GTF3C3,downstream_gene_variant,,ENST00000455546,;GTF3C3,upstream_gene_variant,,ENST00000466862,;							MODERATE	928/2661	I310V	TF3C3_HUMAN			Transcript		benign(0.028)	.	ENSP00000263956		CCDS2316.1			1	
ZEB2	0	LGGM	GRCh37	2	145156636	145156636	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	57	7	.	.	ENST00000558170.2:c.2118A>G	p.Pro706=	p.P706=	ENST00000558170	NM_014795.3	706	ccA/ccG	0	1		UPI00001359A2	0		ENST00000409487		ENSG00000169554	14881		64			HGNC	p.P706P	COSM4085289	ZEB2		SNV			1			1	ENST00000303660	protein_coding			hmmpanther:PTHR13919,hmmpanther:PTHR13919:SF2,Low_complexity_(Seg):seg,SMART_domains:SM00389		P		C		2306/5283				U3KPV5_HUMAN,Q53TG0_HUMAN,Q53TD9_HUMAN,E7EUW9_HUMAN,E7ESP8_HUMAN,C9JUQ1_HUMAN,C9JU62_HUMAN,A0JP08_HUMAN				ZEB2,synonymous_variant,p.=,ENST00000558170,NM_014795.3;ZEB2,synonymous_variant,p.=,ENST00000409487,;ZEB2,synonymous_variant,p.=,ENST00000539609,NM_001171653.1;ZEB2,synonymous_variant,p.=,ENST00000303660,;ZEB2,intron_variant,,ENST00000419938,;ZEB2,downstream_gene_variant,,ENST00000427902,;ZEB2,downstream_gene_variant,,ENST00000392861,;ZEB2,downstream_gene_variant,,ENST00000497268,;					1		LOW	2118/3645		ZEB2_HUMAN			Transcript			.	ENSP00000386854		CCDS2186.1			1	
GPR75	0	LGGM	GRCh37	2	54080804	54080804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	68	8	.	.	ENST00000394705.2:c.1090C>T	p.Leu364Phe	p.L364F	ENST00000394705	NM_006794.3	364	Ctt/Ttt	0	1	1	UPI0000050454	0		ENST00000394705		ENSG00000119737	4526		76			HGNC	p.L364F		GPR75		SNV							ENST00000394705	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/F		A		1361/2115			deleterious(0)				YES	GPR75,missense_variant,p.Leu364Phe,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,;							MODERATE	1090/1623		GPR75_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378195		CCDS1849.1			1	
EPG5	0	LGGM	GRCh37	18	43534622	43534622	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	55	8	.	.	ENST00000282041.5:c.746A>T	p.Gln249Leu	p.Q249L	ENST00000282041	NM_020964.2	249	cAa/cTa	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		63	1.39		HGNC	p.Q249L		EPG5		SNV			1				ENST00000282041	protein_coding	getma.org/?cm=var&var=hg19,18,43534622,T,A&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		Q/L		A	low	781/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=Q249L	tolerated(0.05)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Gln249Leu,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;							MODERATE	746/7740	Q249L	EPG5_HUMAN			Transcript		benign(0.035)	.	ENSP00000282041		CCDS11926.2			1	
GIF	0	LGGM	GRCh37	11	59612866	59612866	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	40	8	.	.	ENST00000257248.2:c.61C>A	p.Gln21Lys	p.Q21K	ENST00000257248	NM_005142.2	21	Cag/Aag	0	1	1	UPI0000001C67	0	NA	ENST00000257248		ENSG00000134812	4268		48	1.7		HGNC	p.Q21K		GIF		SNV			1				ENST00000257248	protein_coding	getma.org/?cm=var&var=hg19,11,59612866,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10559,hmmpanther:PTHR10559:SF15,Pfam_domain:PF01122		Q/K		T	low	109/1518		getma.org/?cm=msa&ty=f&p=IF_HUMAN&rb=6&re=313&var=Q21K	tolerated(0.33)				YES	GIF,missense_variant,p.Gln21Lys,ENST00000257248,NM_005142.2;GIF,5_prime_UTR_variant,,ENST00000541311,;GIF,missense_variant,p.Gln21Lys,ENST00000525058,;GIF,non_coding_transcript_exon_variant,,ENST00000532070,;GIF,upstream_gene_variant,,ENST00000533847,;							MODERATE	61/1254	Q21K	IF_HUMAN			Transcript		benign(0.119)	.	ENSP00000257248		CCDS7977.1			1	
PPID	0	LGGM	GRCh37	4	159631748	159631748	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	23	8	.	.	ENST00000307720.3:c.1024+32T>C		*342*	ENST00000307720	NM_005038.2			0	1	1	UPI0000128C6B	0		ENST00000307720		ENSG00000171497	9257		31			HGNC	p.N45N		PPID		SNV							ENST00000507213	protein_coding							G		-/1823				E5KN55_HUMAN			YES	PPID,synonymous_variant,p.=,ENST00000507213,;PPID,intron_variant,,ENST00000307720,NM_005038.2;ETFDH,downstream_gene_variant,,ENST00000511912,NM_004453.2,NM_001281738.1;ETFDH,downstream_gene_variant,,ENST00000307738,NM_001281737.1;ETFDH,downstream_gene_variant,,ENST00000506422,;PPID,intron_variant,,ENST00000512699,;							MODIFIER	-/1113		PPID_HUMAN			Transcript			.	ENSP00000303754		CCDS3801.1			1	
PCLO	0	LGGM	GRCh37	7	82580708	82580708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	108	8	.	.	ENST00000333891.9:c.9196G>T	p.Ala3066Ser	p.A3066S	ENST00000333891	NM_033026.5	3066	Gca/Tca	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		116	1.955		HGNC	p.A3066S		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82580708,C,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		A/S		A	medium	9534/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=A2997S					YES	PCLO,missense_variant,p.Ala3066Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Ala3066Ser,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	9196/15429	A2997S	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
NOTCH2	0	LGGM	GRCh37	1	120466344	120466344	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	40	9	.	.	ENST00000256646.2:c.4775A>G	p.Tyr1592Cys	p.Y1592C	ENST00000256646	NM_024408.3	1592	tAt/tGt	0	1	1	UPI000013CF1D	0	getma.org/pdb.php?prot=NOTC2_HUMAN&from=1539&to=1595&var=Y1592C	ENST00000256646		ENSG00000134250	7882		49	2.69		HGNC	p.Y1592C		NOTCH2		SNV			1				ENST00000256646	protein_coding	getma.org/?cm=var&var=hg19,1,120466344,T,C&fts=all		Pfam_domain:PF06816,PIRSF_domain:PIRSF002279,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF4		Y/C		C	medium	4995/11389		getma.org/?cm=msa&ty=f&p=NOTC2_HUMAN&rb=1539&re=1595&var=Y1592C	deleterious(0)	Q9UFD5_HUMAN,Q13560_HUMAN			YES	NOTCH2,missense_variant,p.Tyr1592Cys,ENST00000256646,NM_024408.3;NOTCH2,non_coding_transcript_exon_variant,,ENST00000493703,;							MODERATE	4775/7416	Y1592C	NOTC2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256646		CCDS908.1			1	
PPL	0	LGGM	GRCh37	16	4938197	4938197	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	34	9	.	.	ENST00000345988.2:c.2420A>C	p.Lys807Thr	p.K807T	ENST00000345988	NM_002705.4	807	aAa/aCa	0	1	1	UPI00001AE832	0	NA	ENST00000345988		ENSG00000118898	9273		43	1.445		HGNC	p.K805T		PPL		SNV							ENST00000590782	protein_coding	getma.org/?cm=var&var=hg19,16,4938197,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,SMART_domains:SM00150		K/T		G	low	2510/6238		getma.org/?cm=msa&ty=f&p=PEPL_HUMAN&rb=801&re=1000&var=K807T	tolerated(0.08)				YES	PPL,missense_variant,p.Lys807Thr,ENST00000345988,NM_002705.4;PPL,missense_variant,p.Lys805Thr,ENST00000590782,;PPL,missense_variant,p.Lys228Thr,ENST00000592772,;PPL,downstream_gene_variant,,ENST00000588556,;PPL,downstream_gene_variant,,ENST00000590093,;PPL,downstream_gene_variant,,ENST00000589090,;							MODERATE	2420/5271	K807T	PEPL_HUMAN			Transcript		benign(0.047)	.	ENSP00000340510		CCDS10526.1			1	
USP28	0	LGGM	GRCh37	11	113688387	113688387	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	55	9	.	.	ENST00000003302.4:c.1456A>T	p.Lys486Ter	p.K486*	ENST00000003302	NM_020886.2	486	Aag/Tag	0	1	1	UPI0000137A00	0	NA	ENST00000003302		ENSG00000048028	12625		64	0		HGNC	p.K486X		USP28		SNV							ENST00000003302	protein_coding	getma.org/?cm=var&var=hg19,11,113688387,T,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF110,hmmpanther:PTHR24006,Pfam_domain:PF00443		K/*		A	NA	1525/4669		NA		Q96SV4_HUMAN			YES	USP28,stop_gained,p.Lys486Ter,ENST00000003302,NM_020886.2;USP28,stop_gained,p.Lys486Ter,ENST00000260188,;USP28,stop_gained,p.Lys194Ter,ENST00000544967,;USP28,stop_gained,p.Lys361Ter,ENST00000545540,;USP28,stop_gained,p.Lys486Ter,ENST00000537706,;USP28,intron_variant,,ENST00000538475,;RP11-667M19.10,upstream_gene_variant,,ENST00000399123,;USP28,3_prime_UTR_variant,,ENST00000545608,;USP28,intron_variant,,ENST00000540438,;USP28,downstream_gene_variant,,ENST00000535607,;USP28,downstream_gene_variant,,ENST00000537490,;RP11-667M19.9,downstream_gene_variant,,ENST00000536944,;							HIGH	1456/3234	K486*	UBP28_HUMAN			Transcript			.	ENSP00000003302		CCDS31680.1			1	
SPAG17	0	LGGM	GRCh37	1	118624205	118624205	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	81	10	.	.	ENST00000336338.5:c.1823A>T	p.Lys608Met	p.K608M	ENST00000336338	NM_206996.2	608	aAg/aTg	0	1	1	UPI00001601FD	0	NA	ENST00000336338		ENSG00000155761	26620		91	1.95		HGNC	p.K608M		SPAG17		SNV							ENST00000336338	protein_coding	getma.org/?cm=var&var=hg19,1,118624205,T,A&fts=all		hmmpanther:PTHR21963		K/M		A	medium	1889/6924		getma.org/?cm=msa&ty=f&p=SPG17_HUMAN&rb=1&re=609&var=K608M	deleterious(0.02)	A7LBF9_HUMAN			YES	SPAG17,missense_variant,p.Lys608Met,ENST00000336338,NM_206996.2;SPAG17,upstream_gene_variant,,ENST00000477444,;SPAG17,downstream_gene_variant,,ENST00000463628,;SPAG17,upstream_gene_variant,,ENST00000473472,;							MODERATE	1823/6672	K608M	SPG17_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337804		CCDS899.1			1	
SMAP1	0	LGGM	GRCh37	6	71442129	71442129	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	42	10	.	.	ENST00000370455.3:c.167G>A	p.Cys56Tyr	p.C56Y	ENST00000370455	NM_001281440.1	56	tGt/tAt	0	1	1	UPI00000727D6	0	getma.org/pdb.php?prot=SMAP1_HUMAN&from=18&to=132&var=C56Y	ENST00000370455		ENSG00000112305	19651		52	4.73		HGNC	p.C56Y		SMAP1		SNV							ENST00000370455	protein_coding	getma.org/?cm=var&var=hg19,6,71442129,G,A&fts=all		Pfam_domain:PF01412,Prints_domain:PR00405,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF214,SMART_domains:SM00105,Superfamily_domains:SSF57863		C/Y		A	high	415/3333		getma.org/?cm=msa&ty=f&p=SMAP1_HUMAN&rb=18&re=132&var=C56Y	deleterious(0)				YES	SMAP1,missense_variant,p.Cys56Tyr,ENST00000370455,NM_001281440.1,NM_001044305.2;SMAP1,missense_variant,p.Cys56Tyr,ENST00000370452,NM_001281439.1;SMAP1,missense_variant,p.Cys56Tyr,ENST00000316999,NM_021940.4;SMAP1,missense_variant,p.Cys56Tyr,ENST00000422334,;RP11-160A9.2,upstream_gene_variant,,ENST00000404262,;							MODERATE	167/1404	C56Y	SMAP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359484		CCDS43478.1			1	
PCDHA12	0	LGGM	GRCh37	5	140256357	140256357	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	108	10	.	.	ENST00000398631.2:c.1300T>G	p.Ser434Ala	p.S434A	ENST00000398631	NM_018903.2	434	Tcg/Gcg	0	1	1	UPI00001273D5	0	getma.org/pdb.php?prot=PCDAC_HUMAN&from=355&to=446&var=S434A	ENST00000398631		ENSG00000251664	8666		118	0.61		HGNC	p.S434A		PCDHA12		SNV							ENST00000398631	protein_coding	getma.org/?cm=var&var=hg19,5,140256357,T,G&fts=all		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		S/A		G	neutral	1300/5233		getma.org/?cm=msa&ty=f&p=PCDAC_HUMAN&rb=355&re=446&var=S434A	tolerated_low_confidence(0.24)				YES	PCDHA12,missense_variant,p.Ser434Ala,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;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;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,;							MODERATE	1300/2826	S434A	PCDAC_HUMAN			Transcript		benign(0.113)	.	ENSP00000381628		CCDS47285.1			1	
KCNJ6	0	LGGM	GRCh37	21	39087089	39087089	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	60	11	.	.	ENST00000609713.1:c.371T>C	p.Ile124Thr	p.I124T	ENST00000609713	NM_002240.3	124	aTa/aCa	0	1	1	UPI0000000B10	0	getma.org/pdb.php?prot=IRK6_HUMAN&from=57&to=398&var=I124T	ENST00000609713		ENSG00000157542	6267		71	0.33		HGNC	p.I124T		KCNJ6		SNV			1				ENST00000400482	protein_coding	getma.org/?cm=var&var=hg19,21,39087089,A,G&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF19,Superfamily_domains:SSF81324		I/T		G	neutral	961/19645		getma.org/?cm=msa&ty=f&p=IRK6_HUMAN&rb=57&re=398&var=I124T	tolerated(0.59)				YES	KCNJ6,missense_variant,p.Ile124Thr,ENST00000609713,NM_002240.3;KCNJ6,missense_variant,p.Ile124Thr,ENST00000288309,;KCNJ6-IT1,downstream_gene_variant,,ENST00000435001,;							MODERATE	371/1272	I124T				Transcript		benign(0.005)	.	ENSP00000477437		CCDS42927.1			1	
INTS4	0	LGGM	GRCh37	11	77590005	77590005	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	50	11	.	.	ENST00000534064.1:c.2882C>A	p.Ala961Glu	p.A961E	ENST00000534064	NM_033547.3	961	gCa/gAa	0	1	1	UPI00001FB00A	0	NA	ENST00000534064		ENSG00000149262	25048		61	0		HGNC	p.A961E		INTS4		SNV							ENST00000534064	protein_coding	getma.org/?cm=var&var=hg19,11,77590005,G,T&fts=all		hmmpanther:PTHR20938,hmmpanther:PTHR20938:SF0		A/E		T	neutral	2917/3156		getma.org/?cm=msa&ty=f&p=INT4_HUMAN&rb=927&re=963&var=A961E	tolerated(0.06)				YES	INTS4,missense_variant,p.Ala961Glu,ENST00000534064,NM_033547.3;INTS4,missense_variant,p.Ala336Glu,ENST00000535943,;AAMDC,intron_variant,,ENST00000527134,;AAMDC,intron_variant,,ENST00000532481,;AAMDC,intron_variant,,ENST00000304716,;INTS4,3_prime_UTR_variant,,ENST00000433818,;AAMDC,intron_variant,,ENST00000526164,;AAMDC,intron_variant,,ENST00000529666,;							MODERATE	2882/2892	A961E	INT4_HUMAN			Transcript		benign(0.147)	.	ENSP00000434466		CCDS31644.1			1	
RELN	0	LGGM	GRCh37	7	103159822	103159822	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	63	11	.	.	ENST00000428762.1:c.7810A>G	p.Ile2604Val	p.I2604V	ENST00000428762	NM_005045.3	2604	Att/Gtt	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=2572&to=2771&var=I2604V	ENST00000428762		ENSG00000189056	9957		74	1.445		HGNC	p.I2604V		RELN		SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103159822,T,C&fts=all		hmmpanther:PTHR11841,Superfamily_domains:SSF50939,Superfamily_domains:SSF50939		I/V		C	low	7970/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=2572&re=2771&var=I2604V	deleterious(0.04)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Ile2604Val,ENST00000424685,;RELN,missense_variant,p.Ile2604Val,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Ile2604Val,ENST00000343529,NM_173054.2;RELN,downstream_gene_variant,,ENST00000478148,;							MODERATE	7810/10383	I2604V	RELN_HUMAN			Transcript		benign(0.007)	.	ENSP00000392423		CCDS47680.1			1	
NINL	0	LGGM	GRCh37	20	25470555	25470555	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	40	12	.	.	ENST00000278886.6:c.1552G>T	p.Ala518Ser	p.A518S	ENST00000278886	NM_025176.4	518	Gcc/Tcc	0	1	1	UPI0000206B64	0	NA	ENST00000278886		ENSG00000101004	29163		52	0.55		HGNC	p.A518S		NINL		SNV							ENST00000278886	protein_coding	getma.org/?cm=var&var=hg19,20,25470555,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF12		A/S		A	neutral	1626/4969		getma.org/?cm=msa&ty=f&p=NINL_HUMAN&rb=465&re=664&var=A518S	deleterious(0.04)				YES	NINL,missense_variant,p.Ala518Ser,ENST00000278886,NM_025176.4;NINL,missense_variant,p.Ala518Ser,ENST00000422516,;NINL,non_coding_transcript_exon_variant,,ENST00000489780,;NINL,non_coding_transcript_exon_variant,,ENST00000461642,;							MODERATE	1552/4149	A518S	NINL_HUMAN			Transcript		benign(0.004)	.	ENSP00000278886		CCDS33452.1			1	
TRUB2	0	LGGM	GRCh37	9	131073188	131073188	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	73	12	.	.	ENST00000372890.4:c.648T>A	p.Phe216Leu	p.F216L	ENST00000372890	NM_015679.1	216	ttT/ttA	0	1	1	UPI0000074026	0	getma.org/pdb.php?prot=TRUB2_HUMAN&from=84&to=233&var=F216L	ENST00000372890		ENSG00000167112	17170		85	1.805		HGNC	p.F160L		TRUB2		SNV							ENST00000546104	protein_coding	getma.org/?cm=var&var=hg19,9,131073188,A,T&fts=all		hmmpanther:PTHR13195,Pfam_domain:PF01509,Superfamily_domains:SSF55120		F/L		T	low	982/1777		getma.org/?cm=msa&ty=f&p=TRUB2_HUMAN&rb=84&re=233&var=F216L	tolerated(0.06)	B7Z7G5_HUMAN			YES	TRUB2,missense_variant,p.Phe216Leu,ENST00000372890,NM_015679.1;TRUB2,missense_variant,p.Phe160Leu,ENST00000546104,;RP11-339B21.14,upstream_gene_variant,,ENST00000608093,;TRUB2,non_coding_transcript_exon_variant,,ENST00000460320,;TRUB2,non_coding_transcript_exon_variant,,ENST00000461180,;							MODERATE	648/996	F216L	TRUB2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000361982		CCDS6897.1			1	
GRIN2A	0	LGGM	GRCh37	16	9934811	9934811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	54	12	.	.	ENST00000330684.3:c.1479G>T	p.Trp493Cys	p.W493C	ENST00000330684	NM_001134407.1	493	tgG/tgT	0	1		UPI000000D7AB	0	getma.org/pdb.php?prot=NMDE1_HUMAN&from=448&to=798&var=W493C	ENST00000330684		ENSG00000183454	4585		66	3.695		HGNC	p.W493C		GRIN2A		SNV			1				ENST00000396575	protein_coding	getma.org/?cm=var&var=hg19,16,9934811,C,A&fts=all		Gene3D:3.40.190.10,Pfam_domain:PF00497,Prints_domain:PR00177,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF107,SMART_domains:SM00079,SMART_domains:SM00918,Superfamily_domains:SSF53850		W/C		A	high	2027/5031		getma.org/?cm=msa&ty=f&p=NMDE1_HUMAN&rb=448&re=798&var=W493C	deleterious(0)	Q547U9_HUMAN				GRIN2A,missense_variant,p.Trp493Cys,ENST00000396573,NM_000833.3;GRIN2A,missense_variant,p.Trp493Cys,ENST00000330684,NM_001134407.1;GRIN2A,missense_variant,p.Trp493Cys,ENST00000404927,NM_001134408.1;GRIN2A,missense_variant,p.Trp493Cys,ENST00000562109,;GRIN2A,missense_variant,p.Trp493Cys,ENST00000396575,;GRIN2A,missense_variant,p.Trp336Cys,ENST00000535259,;							MODERATE	1479/4395	W493C	NMDE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332549		CCDS10539.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26232945	26232945	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	49	12	.	.	ENST00000354667.4:c.926A>C	p.Gln309Pro	p.Q309P	ENST00000354667	NM_031243.2	309	cAa/cCa	0	1	1	UPI000002F091	0	NA	ENST00000354667		ENSG00000122566	5033		61	2.2		HGNC	p.Q297P		HNRNPA2B1		SNV			1				ENST00000356674	protein_coding	getma.org/?cm=var&var=hg19,7,26232945,T,G&fts=all		hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012		Q/P		G	medium	1095/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=184&re=317&var=Q309P	deleterious(0)				YES	HNRNPA2B1,missense_variant,p.Gln309Pro,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Gln297Pro,ENST00000356674,NM_002137.3;HNRNPA2B1,upstream_gene_variant,,ENST00000476233,;HNRNPA2B1,missense_variant,p.Gln309Pro,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,downstream_gene_variant,,ENST00000495810,;							MODERATE	926/1062	Q309P	ROA2_HUMAN			Transcript		benign(0.038)	.	ENSP00000346694		CCDS43557.1			1	
RSPH6A	0	LGGM	GRCh37	19	46308141	46308141	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	15	12	.	.	ENST00000221538.3:c.1022C>G	p.Thr341Ser	p.T341S	ENST00000221538	NM_030785.3	341	aCc/aGc	0	1	1	UPI0000037C58	0	NA	ENST00000221538		ENSG00000104941	14241		27	0.75		HGNC	p.T341S		RSPH6A		SNV							ENST00000597055	protein_coding	getma.org/?cm=var&var=hg19,19,46308141,G,C&fts=all		hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF1,Pfam_domain:PF04712		T/S		C	neutral	1165/2456		getma.org/?cm=msa&ty=f&p=RSH6A_HUMAN&rb=195&re=697&var=T341S	tolerated(0.27)	M0R103_HUMAN			YES	RSPH6A,missense_variant,p.Thr341Ser,ENST00000221538,NM_030785.3;RSPH6A,missense_variant,p.Thr341Ser,ENST00000597055,;RSPH6A,missense_variant,p.Thr77Ser,ENST00000600188,;							MODERATE	1022/2154	T341S	RSH6A_HUMAN			Transcript		benign(0.06)	.	ENSP00000221538		CCDS12675.1			1	
UNC13C	0	LGGM	GRCh37	15	54592538	54592538	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	51	12	.	.	ENST00000260323.11:c.4235G>A	p.Arg1412His	p.R1412H	ENST00000260323	NM_001080534.1	1412	cGt/cAt	0	1	1	UPI0000DD82AB	0	NA	ENST00000260323		ENSG00000137766	23149	0.000653	63	2.67		HGNC	p.R1410H	rs777938801,COSM4055695,COSM4055696,COSM4055697	UNC13C	0.000115	SNV						0,1,1,1	ENST00000537900	protein_coding	getma.org/?cm=var&var=hg19,15,54592538,G,A&fts=all		hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		R/H		A	medium	4235/8131	0.000104	getma.org/?cm=msa&ty=f&p=UN13C_HUMAN&rb=1314&re=1513&var=R1412H	deleterious_low_confidence(0)	H3BRP8_HUMAN			YES	UNC13C,missense_variant,p.Arg1412His,ENST00000545554,;UNC13C,missense_variant,p.Arg1410His,ENST00000537900,;UNC13C,missense_variant,p.Arg1412His,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;					0,1,1,1		MODERATE	4235/6645	R1412H	UN13C_HUMAN			Transcript		probably_damaging(0.997)	common_variant	ENSP00000260323	3.34E-05	CCDS45264.1			1	
LRRC8C	0	LGGM	GRCh37	1	90178744	90178744	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	52	13	.	.	ENST00000370454.4:c.615C>A	p.Asp205Glu	p.D205E	ENST00000370454	NM_032270.4	205	gaC/gaA	0	1	1	UPI000013E814	0	NA	ENST00000370454		ENSG00000171488	25075		65	-0.345		HGNC	p.D205E		LRRC8C		SNV							ENST00000370454	protein_coding	getma.org/?cm=var&var=hg19,1,90178744,C,A&fts=all				D/E		A	neutral	870/7218		getma.org/?cm=msa&ty=f&p=LRC8C_HUMAN&rb=159&re=358&var=D205E	tolerated(1)				YES	LRRC8C,missense_variant,p.Asp205Glu,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,;							MODERATE	615/2412	D205E	LRC8C_HUMAN			Transcript		benign(0)	.	ENSP00000359483		CCDS725.1			1	
ZNF548	0	LGGM	GRCh37	19	57911230	57911230	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	53	17	.	.	ENST00000336128.7:c.1611T>A	p.Asp537Glu	p.D537E	ENST00000336128	NM_001172773.1	537	gaT/gaA	0	1		UPI0000202D1F	0	NA	ENST00000366197		ENSG00000188785	26561		70	-0.97		HGNC	p.D537E		ZNF548		SNV							ENST00000336128	protein_coding	getma.org/?cm=var&var=hg19,19,57911230,T,A&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF189		D/E		A	neutral	1825/3381		getma.org/?cm=msa&ty=f&p=ZN548_HUMAN&rb=489&re=533&var=D525E	tolerated(1)					ZNF548,missense_variant,p.Asp525Glu,ENST00000366197,NM_152909.3;ZNF548,missense_variant,p.Asp537Glu,ENST00000336128,NM_001172773.1;AC003002.6,intron_variant,,ENST00000596400,;AC003002.6,intron_variant,,ENST00000596617,;AC004076.7,intron_variant,,ENST00000597410,;ZNF548,downstream_gene_variant,,ENST00000600927,;ZNF548,downstream_gene_variant,,ENST00000597400,;ZNF548,downstream_gene_variant,,ENST00000598895,;ZNF548,downstream_gene_variant,,ENST00000596282,;ZNF548,downstream_gene_variant,,ENST00000594668,;ZNF548,downstream_gene_variant,,ENST00000594693,;AC003002.4,downstream_gene_variant,,ENST00000597658,;AC003002.6,intron_variant,,ENST00000600421,;ZNF548,downstream_gene_variant,,ENST00000597047,;ZNF548,downstream_gene_variant,,ENST00000597576,;ZNF548,downstream_gene_variant,,ENST00000602086,;ZNF548,downstream_gene_variant,,ENST00000600442,;							MODERATE	1575/1602	D525E	ZN548_HUMAN			Transcript		benign(0.003)	.	ENSP00000379482		CCDS46209.1			1	
PCDHB10	0	LGGM	GRCh37	5	140572562	140572562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	108	17	.	.	ENST00000239446.4:c.437C>A	p.Thr146Lys	p.T146K	ENST00000239446	NM_018930.3	146	aCa/aAa	0	1	1	UPI0000048F2E	0	getma.org/pdb.php?prot=PCDBA_HUMAN&from=138&to=233&var=T146K	ENST00000239446		ENSG00000120324	8681		125	2.97		HGNC	p.T146K		PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140572562,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Superfamily_domains:SSF49313		T/K		A	medium	621/3274		getma.org/?cm=msa&ty=f&p=PCDBA_HUMAN&rb=138&re=233&var=T146K	deleterious_low_confidence(0.01)	O95883_HUMAN			YES	PCDHB10,missense_variant,p.Thr146Lys,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							MODERATE	437/2403	T146K	PCDBA_HUMAN			Transcript		benign(0.442)	.	ENSP00000239446		CCDS4252.1			1	
ZNF749	0	LGGM	GRCh37	19	57955593	57955593	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	116	19	.	.	ENST00000334181.4:c.1077T>A	p.Cys359Ter	p.C359*	ENST00000334181	NM_001023561.2	359	tgT/tgA	0	1	1	UPI0000237933	0	NA	ENST00000334181		ENSG00000186230	32783		135	0		HGNC	p.C359X		ZNF749		SNV							ENST00000334181	protein_coding	getma.org/?cm=var&var=hg19,19,57955593,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF5,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/*		A	NA	1327/2587		NA		C9J756_HUMAN			YES	ZNF749,stop_gained,p.Cys359Ter,ENST00000334181,NM_001023561.2;AC004076.9,intron_variant,,ENST00000596831,;ZNF749,downstream_gene_variant,,ENST00000415248,;							HIGH	1077/2337	C359*	ZN749_HUMAN			Transcript			.	ENSP00000333980		CCDS33132.2			1	
KMT2E	0	LGGM	GRCh37	7	104747135	104747135	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H093904	H093904N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	89	19	.	.	ENST00000311117.3:c.2763A>C	p.Glu921Asp	p.E921D	ENST00000311117	NM_182931.2	921	gaA/gaC	0	1		UPI0000074133	0	NA	ENST00000257745		ENSG00000005483	18541		108	0.345		HGNC	p.E921D	COSM1083680	KMT2E		SNV						1	ENST00000334877	protein_coding	getma.org/?cm=var&var=hg19,7,104747135,A,C&fts=all		hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9		E/D		C	neutral	3149/6714		getma.org/?cm=msa&ty=f&p=MLL5_HUMAN&rb=848&re=1047&var=E921D	deleterious_low_confidence(0.04)	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN				KMT2E,missense_variant,p.Glu921Asp,ENST00000334877,;KMT2E,missense_variant,p.Glu921Asp,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Glu921Asp,ENST00000257745,NM_018682.3;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,downstream_gene_variant,,ENST00000479838,;KMT2E,upstream_gene_variant,,ENST00000473063,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,intron_variant,,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;					1		MODERATE	2763/5577	E921D	KMT2E_HUMAN			Transcript		benign(0.217)	.	ENSP00000257745		CCDS34723.1			1	
PDE1C	0	LGGM	GRCh37	7	31855540	31855540	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	67	19	.	.	ENST00000396193.1:c.1991A>C	p.Asn664Thr	p.N664T	ENST00000396193	NM_001191058.1	664	aAt/aCt	0	1		UPI0000127BE9	0	NA	ENST00000321453		ENSG00000154678	8776		86	0.345		HGNC	p.N664T		PDE1C		SNV							ENST00000396193	protein_coding	getma.org/?cm=var&var=hg19,7,31855540,T,G&fts=all				N/T		G	neutral	2271/2898		getma.org/?cm=msa&ty=f&p=PDE1C_HUMAN&rb=521&re=707&var=N604T	tolerated_low_confidence(0.44)	Q75MW3_HUMAN,F8W905_HUMAN				PDE1C,missense_variant,p.Asn604Thr,ENST00000396184,NM_005020.2;PDE1C,missense_variant,p.Asn664Thr,ENST00000396193,NM_001191058.1;PDE1C,missense_variant,p.Asn604Thr,ENST00000396191,NM_001191057.1;PDE1C,missense_variant,p.Asn604Thr,ENST00000321453,NM_001191059.1;PDE1C,missense_variant,p.Asn604Thr,ENST00000396182,NM_001191056.1;PDE1C,splice_region_variant,,ENST00000479980,;							MODERATE	1811/2130	N604T	PDE1C_HUMAN			Transcript		benign(0.003)	.	ENSP00000318105		CCDS55099.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26232921	26232921	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	58	19	.	.	ENST00000354667.4:c.950A>C	p.Lys317Thr	p.K317T	ENST00000354667	NM_031243.2	317	aAg/aCg	0	1	1	UPI000002F091	0	NA	ENST00000354667		ENSG00000122566	5033		77	3.04		HGNC	p.K305T		HNRNPA2B1		SNV			1				ENST00000356674	protein_coding	getma.org/?cm=var&var=hg19,7,26232921,T,G&fts=all		hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012		K/T		G	medium	1119/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=184&re=317&var=K317T	deleterious(0)				YES	HNRNPA2B1,missense_variant,p.Lys317Thr,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Lys305Thr,ENST00000356674,NM_002137.3;HNRNPA2B1,upstream_gene_variant,,ENST00000476233,;HNRNPA2B1,missense_variant,p.Lys317Thr,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,downstream_gene_variant,,ENST00000495810,;							MODERATE	950/1062	K317T	ROA2_HUMAN			Transcript		benign(0.017)	.	ENSP00000346694		CCDS43557.1			1	
COPA	0	LGGM	GRCh37	1	160309715	160309715	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H093904	H093904N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	63	20	.	.	ENST00000368069.3:c.212A>G	p.Asp71Gly	p.D71G	ENST00000368069		71	gAt/gGt	0	1		UPI000013CAD9	0	NA	ENST00000241704		ENSG00000122218	2230		83	2.265		HGNC	p.D71G		COPA		SNV							ENST00000368069	protein_coding	getma.org/?cm=var&var=hg19,1,160309715,T,C&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF003354,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/G		C	medium	442/4789		getma.org/?cm=msa&ty=f&p=COPA_HUMAN&rb=41&re=79&var=D71G	deleterious(0)					COPA,missense_variant,p.Asp71Gly,ENST00000241704,NM_004371.3,NM_001098398.1;COPA,missense_variant,p.Asp71Gly,ENST00000368069,;NCSTN,upstream_gene_variant,,ENST00000368063,;NCSTN,upstream_gene_variant,,ENST00000294785,NM_015331.2;NCSTN,upstream_gene_variant,,ENST00000392212,;NCSTN,upstream_gene_variant,,ENST00000535857,;NCSTN,upstream_gene_variant,,ENST00000421914,;NCSTN,upstream_gene_variant,,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000437169,;NCSTN,upstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000465223,;NCSTN,upstream_gene_variant,,ENST00000491332,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;COPA,non_coding_transcript_exon_variant,,ENST00000545266,;							MODERATE	212/3675	D71G	COPA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000241704		CCDS1202.1			1	
WNT5B	0	LGGM	GRCh37	12	1741881	1741881	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H093904	H093904N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	70	21	.	.	ENST00000397196.2:c.138C>G	p.Pro46=	p.P46=	ENST00000397196	NM_032642.2	46	ccC/ccG	0	1		UPI0000138F3C	0		ENST00000310594		ENSG00000111186	16265		91			HGNC	p.P46P	rs376248597	WNT5B	6.07E-05	SNV	T:0						ENST00000537031	protein_coding			hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF87		P	T:0.0001	G		283/2184				F5H7Q6_HUMAN,F5H364_HUMAN,F5H034_HUMAN				WNT5B,synonymous_variant,p.=,ENST00000397196,NM_032642.2;WNT5B,synonymous_variant,p.=,ENST00000310594,NM_030775.2;WNT5B,synonymous_variant,p.=,ENST00000537031,;WNT5B,synonymous_variant,p.=,ENST00000543071,;WNT5B,synonymous_variant,p.=,ENST00000545811,;WNT5B,synonymous_variant,p.=,ENST00000539198,;WNT5B,synonymous_variant,p.=,ENST00000542408,;WNT5B,non_coding_transcript_exon_variant,,ENST00000543563,;WNT5B,downstream_gene_variant,,ENST00000538854,;							LOW	138/1080		WNT5B_HUMAN			Transcript			.	ENSP00000308887	8.24E-06	CCDS8510.1			1	
TOPORS	0	LGGM	GRCh37	9	32541834	32541834	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H093904	H093904N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H093904N.bam, H093904T.bam	Illumina HiSeq	110	27	.	.	ENST00000360538.2:c.2689C>A	p.His897Asn	p.H897N	ENST00000360538	NM_005802.4	897	Cat/Aat	0	1	1	UPI000006F223	0	NA	ENST00000360538		ENSG00000197579	21653		137	0		HGNC	p.H832N		TOPORS		SNV			1				ENST00000379858	protein_coding	getma.org/?cm=var&var=hg19,9,32541834,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12456:SF12,hmmpanther:PTHR12456		H/N		T	neutral	2806/4098		getma.org/?cm=msa&ty=f&p=TOPRS_HUMAN&rb=499&re=1011&var=H897N	deleterious(0.04)				YES	TOPORS,missense_variant,p.His897Asn,ENST00000360538,NM_005802.4;TOPORS,missense_variant,p.His832Asn,ENST00000379858,NM_001195622.1;							MODERATE	2689/3138	H897N	TOPRS_HUMAN			Transcript		unknown(0)	.	ENSP00000353735		CCDS6527.1			1	
OMD	0	LGGM	GRCh37	9	95177642	95177642	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	23	3	.	.	ENST00000375550.4:c.1058G>T	p.Cys353Phe	p.C353F	ENST00000375550	NM_005014.2	353	tGc/tTc	0	1	1	UPI000000DB73	0	NA	ENST00000375550		ENSG00000127083	8134		26	2.845		HGNC	p.C353F		OMD		SNV							ENST00000375550	protein_coding	getma.org/?cm=var&var=hg19,9,95177642,C,A&fts=all		hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF8,Superfamily_domains:SSF52058		C/F		A	medium	1334/2449		getma.org/?cm=msa&ty=f&p=OMD_HUMAN&rb=293&re=421&var=C353F	deleterious(0)				YES	OMD,missense_variant,p.Cys353Phe,ENST00000375550,NM_005014.2;CENPP,intron_variant,,ENST00000375587,NM_001012267.1;							MODERATE	1058/1266	C353F	OMD_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364700		CCDS6696.1			1	
FAM205B	0	LGGM	GRCh37	9	34834388	34834388	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	A	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	37	3	.	.	ENST00000399773.6:n.1913G>T		*638*	ENST00000399773				0	1	1		0		ENST00000399773		ENSG00000257198	24504		40			HGNC	p.V367V		FAM205B		SNV							ENST00000455647	transcribed_unprocessed_pseudogene							A		1913/4009							YES	FAM205B,non_coding_transcript_exon_variant,,ENST00000455647,;FAM205B,downstream_gene_variant,,ENST00000378786,;FAM205B,non_coding_transcript_exon_variant,,ENST00000399773,;							MODIFIER						Transcript			.						1	
TMTC1	0	LGGM	GRCh37	12	29920894	29920894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	43	3	.	.	ENST00000539277.1:c.417G>T	p.Lys139Asn	p.K139N	ENST00000539277	NM_001193451.1	139	aaG/aaT	0	1	1	UPI0001DD37FA	0	NA	ENST00000539277		ENSG00000133687	24099		46	1.055		HGNC	p.K31N	rs753957920	TMTC1		SNV							ENST00000256062	protein_coding	getma.org/?cm=var&var=hg19,12,29920894,C,A&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF353		K/N		A	low	476/2758	1.50E-05	getma.org/?cm=msa&ty=f&p=TMTC1_HUMAN&rb=76&re=193&var=K139N	tolerated(0.32)	B3KVW1_HUMAN			YES	TMTC1,missense_variant,p.Lys31Asn,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Lys139Asn,ENST00000551659,;TMTC1,missense_variant,p.Lys139Asn,ENST00000552618,;TMTC1,missense_variant,p.Lys139Asn,ENST00000539277,NM_001193451.1;TMTC1,missense_variant,p.Lys31Asn,ENST00000381224,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;							MODERATE	417/2649	K139N	TMTC1_HUMAN			Transcript		benign(0.036)	.	ENSP00000442046	8.24E-06	CCDS53772.1			1	
CCDC154	0	LGGM	GRCh37	16	1484472	1484472	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	6	4	.	.	ENST00000389176.3:c.1962G>A	p.Leu654=	p.L654=	ENST00000389176	NM_001143980.1	654	ctG/ctA	0	1	1	UPI000178DF39	0		ENST00000389176		ENSG00000197599	34454		10			HGNC	p.L654L	rs573896176	CCDC154	0.000632	SNV							ENST00000389176	protein_coding		T:0			L		T		2129/2212					T:0	T:0	YES	CCDC154,synonymous_variant,p.=,ENST00000409671,;CCDC154,synonymous_variant,p.=,ENST00000389176,NM_001143980.1;CCDC154,3_prime_UTR_variant,,ENST00000483702,;CCDC154,non_coding_transcript_exon_variant,,ENST00000463299,;		T:0.0004					LOW	1962/2025		CC154_HUMAN		T:0	Transcript			common_variant	ENSP00000373828	0.000187			T:0.002	1	
PROSER2	0	LGGM	GRCh37	10	11911602	11911602	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	5	5	.	.	ENST00000277570.5:c.505G>A	p.Asp169Asn	p.D169N	ENST00000277570	NM_153256.3	169	Gat/Aat	0	1	1	UPI00001F8B49	0	NA	ENST00000277570		ENSG00000148426	23728		10	0		HGNC	p.D169N	rs778677863	PROSER2		SNV							ENST00000277570	protein_coding	getma.org/?cm=var&var=hg19,10,11911602,G,A&fts=all		Pfam_domain:PF15385,hmmpanther:PTHR16095,hmmpanther:PTHR16095:SF9,Low_complexity_(Seg):seg		D/N		A	neutral	659/3333		getma.org/?cm=msa&ty=f&p=CJ047_HUMAN&rb=1&re=433&var=D169N	tolerated(0.3)	D3DRR9_HUMAN			YES	PROSER2,missense_variant,p.Asp169Asn,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,downstream_gene_variant,,ENST00000474155,;	0.00015						MODERATE	505/1308	D169N	PRSR2_HUMAN			Transcript		benign(0.07)	.	ENSP00000277570	8.25E-06	CCDS7085.1			1	
PDZD2	0	LGGM	GRCh37	5	32089875	32089875	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	12	5	.	.	ENST00000438447.1:c.6321C>A	p.Asn2107Lys	p.N2107K	ENST00000438447		2107	aaC/aaA	0	1	1	UPI000069648B	0	NA	ENST00000438447		ENSG00000133401	18486		17	0.69		HGNC	p.N2107K		PDZD2		SNV							ENST00000438447	protein_coding	getma.org/?cm=var&var=hg19,5,32089875,C,A&fts=all		hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		N/K		A	neutral	6709/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=1225&re=2328&var=N2107K	deleterious(0.01)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Asn2107Lys,ENST00000438447,;PDZD2,missense_variant,p.Asn2107Lys,ENST00000282493,NM_178140.2;							MODERATE	6321/8520	N2107K	PDZD2_HUMAN			Transcript		benign(0.11)	.	ENSP00000402033		CCDS34137.1			1	
KIAA2018	0	LGGM	GRCh37	3	113374656	113374656	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104025	H104025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	7	5	.	.	ENST00000316407.4:c.5873A>T	p.His1958Leu	p.H1958L	ENST00000316407	NM_001009899.2	1958	cAt/cTt	0	1	1	UPI00004800D8	0	NA	ENST00000316407		ENSG00000176542	30494		12	1.04		HGNC	p.H1958L		KIAA2018		SNV							ENST00000478658	protein_coding	getma.org/?cm=var&var=hg19,3,113374656,T,A&fts=all				H/L		A	low	6284/13708		getma.org/?cm=msa&ty=f&p=K2018_HUMAN&rb=1871&re=2070&var=H1958L					YES	KIAA2018,missense_variant,p.His1958Leu,ENST00000316407,NM_001009899.2;KIAA2018,missense_variant,p.His1958Leu,ENST00000478658,;KIAA2018,intron_variant,,ENST00000491165,;KIAA2018,non_coding_transcript_exon_variant,,ENST00000496826,;							MODERATE	5873/6738	H1958L	K2018_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000320794		CCDS43133.1			1	
GPR110	0	LGGM	GRCh37	6	46973610	46973610	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	10	6	.	.	ENST00000371253.2:c.2536C>T	p.Arg846Ter	p.R846*	ENST00000371253	NM_153840.2	846	Cga/Tga	0	1	1	UPI00000474ED	0	NA	ENST00000371253		ENSG00000153292	18990		16	0		HGNC	p.R649X	rs547714370	GPR110	6.48E-05	SNV				9.78E-05			ENST00000283297	protein_coding	getma.org/?cm=var&var=hg19,6,46973610,G,A&fts=all	A:0.0008	hmmpanther:PTHR12011:SF227,hmmpanther:PTHR12011,Prints_domain:PR01695		R/*		A	NA	2752/5468		NA			A:0	A:0	YES	GPR110,stop_gained,p.Arg846Ter,ENST00000371253,NM_153840.2;GPR110,stop_gained,p.Arg649Ter,ENST00000283297,;GPR110,non_coding_transcript_exon_variant,,ENST00000449332,;GPR110,non_coding_transcript_exon_variant,,ENST00000419892,;GPR110,upstream_gene_variant,,ENST00000477858,;		A:0.0002					HIGH	2536/2733	R846*	GP110_HUMAN		A:0	Transcript			.	ENSP00000360299	1.65E-05	CCDS34471.1		A:0	1	
SCUBE2	0	LGGM	GRCh37	11	9080893	9080893	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	38	8	.	.	ENST00000520467.1:c.1047C>T	p.Cys349=	p.C349=	ENST00000520467	NM_020974.2	349	tgC/tgT	0	1	1	UPI0001E5E848	0		ENST00000520467		ENSG00000175356	30425		46			HGNC	p.C349C		SCUBE2		SNV							ENST00000520467	protein_coding			hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF3,PROSITE_patterns:PS01186,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF14670,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		C		A		1118/3148							YES	SCUBE2,synonymous_variant,p.=,ENST00000457346,;SCUBE2,synonymous_variant,p.=,ENST00000309263,;SCUBE2,synonymous_variant,p.=,ENST00000520467,NM_020974.2;SCUBE2,synonymous_variant,p.=,ENST00000450649,NM_001170690.1;SCUBE2,synonymous_variant,p.=,ENST00000519788,;SCUBE2,synonymous_variant,p.=,ENST00000531429,;RP11-467K18.2,intron_variant,,ENST00000521394,;RP11-467K18.2,downstream_gene_variant,,ENST00000531592,;							LOW	1047/2916		SCUB2_HUMAN			Transcript			.	ENSP00000429969		CCDS7797.2			1	
KCNB1	0	LGGM	GRCh37	20	47990063	47990063	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	14	9	.	.	ENST00000371741.4:c.2034G>C	p.Glu678Asp	p.E678D	ENST00000371741	NM_004975.2	678	gaG/gaC	0	1	1	UPI000012DC80	0	NA	ENST00000371741		ENSG00000158445	6231		23	1.59		HGNC	p.E678D		KCNB1		SNV			1				ENST00000371741	protein_coding	getma.org/?cm=var&var=hg19,20,47990063,C,G&fts=all		Pfam_domain:PF03521		E/D		G	low	2201/11850		getma.org/?cm=msa&ty=f&p=KCNB1_HUMAN&rb=467&re=716&var=E678D	tolerated_low_confidence(0.17)				YES	KCNB1,missense_variant,p.Glu678Asp,ENST00000371741,NM_004975.2;							MODERATE	2034/2577	E678D	KCNB1_HUMAN			Transcript		benign(0.022)	.	ENSP00000360806		CCDS13418.1			1	
LMX1A	0	LGGM	GRCh37	1	165179968	165179968	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	60	9	.	.	ENST00000342310.3:c.715G>A	p.Val239Ile	p.V239I	ENST00000342310	NM_177398.3	239	Gtc/Atc	0	1		UPI000012E793	0	getma.org/pdb.php?prot=LMX1A_HUMAN&from=196&to=252&var=V239I	ENST00000294816		ENSG00000162761	6653		69	1.335		HGNC	p.V239I	rs764888037,COSM39593	LMX1A		SNV						0,1	ENST00000294816	protein_coding	getma.org/?cm=var&var=hg19,1,165179968,C,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_patterns:PS00027,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF88,SMART_domains:SM00389,Superfamily_domains:SSF46689		V/I		T	low	909/3350	4.50E-05	getma.org/?cm=msa&ty=f&p=LMX1A_HUMAN&rb=196&re=252&var=V239I	deleterious(0)	Q6NZ39_HUMAN				LMX1A,missense_variant,p.Val239Ile,ENST00000342310,NM_177398.3;LMX1A,missense_variant,p.Val239Ile,ENST00000294816,NM_001174069.1;LMX1A,missense_variant,p.Val239Ile,ENST00000367893,;RP11-38C18.2,non_coding_transcript_exon_variant,,ENST00000457106,;LMX1A,non_coding_transcript_exon_variant,,ENST00000489443,;					0,1		MODERATE	715/1149	V239I	LMX1A_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000294816	2.47E-05	CCDS1247.1			1	
JRKL	0	LGGM	GRCh37	11	96125320	96125320	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	12	10	.	.	ENST00000458427.1:c.1507A>T	p.Arg503Ter	p.R503*	ENST00000458427	NM_003772.3	503	Aga/Tga	0	1		UPI0000167818	0	NA	ENST00000332349		ENSG00000183340	6200		22	0		HGNC	p.R503X		JRKL		SNV							ENST00000458427	protein_coding	getma.org/?cm=var&var=hg19,11,96125320,A,T&fts=all		hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF174		R/*		T	NA	1754/2855		NA						JRKL,stop_gained,p.Arg503Ter,ENST00000458427,NM_003772.3;JRKL,stop_gained,p.Arg503Ter,ENST00000332349,NM_001261833.1;CCDC82,upstream_gene_variant,,ENST00000278520,;CCDC82,upstream_gene_variant,,ENST00000542662,NM_024725.3;CCDC82,upstream_gene_variant,,ENST00000538597,;JRKL,intron_variant,,ENST00000546177,;CCDC82,upstream_gene_variant,,ENST00000525786,;CCDC82,upstream_gene_variant,,ENST00000524836,;							HIGH	1507/1575	R503*	JERKL_HUMAN			Transcript			.	ENSP00000333350		CCDS8308.1			1	
RNF112	0	LGGM	GRCh37	17	19318088	19318088	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	11	11	.	.	ENST00000461366.1:c.1014G>A	p.Leu338=	p.L338=	ENST00000461366	NM_007148.4	338	ttG/ttA	0	1	1	UPI00001B0607	0		ENST00000461366		ENSG00000128482	12968		22			HGNC	p.L338L		RNF112		SNV							ENST00000461366	protein_coding			PROSITE_profiles:PS51715,hmmpanther:PTHR10751:SF1,hmmpanther:PTHR10751,Gene3D:3.40.50.300		L		A		1229/3212				J3QRB8_HUMAN			YES	RNF112,synonymous_variant,p.=,ENST00000461366,NM_007148.4;RNF112,downstream_gene_variant,,ENST00000575165,;AC004448.2,upstream_gene_variant,,ENST00000437646,;CTB-187M2.2,upstream_gene_variant,,ENST00000579897,;RNF112,downstream_gene_variant,,ENST00000580109,;RNF112,downstream_gene_variant,,ENST00000574149,;RNF112,upstream_gene_variant,,ENST00000574782,;							LOW	1014/1896		RN112_HUMAN			Transcript			.	ENSP00000454919		CCDS58529.1			1	
SCN10A	0	LGGM	GRCh37	3	38770386	38770386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	25	11	.	.	ENST00000449082.2:c.2287G>A	p.Val763Ile	p.V763I	ENST00000449082	NM_006514.2	763	Gta/Ata	0	1	1	UPI0000209BDA	0	getma.org/pdb.php?prot=SCNAA_HUMAN&from=699&to=889&var=V763I	ENST00000449082		ENSG00000185313	10582		36	0.945		HGNC	p.V763I	rs569904203	SCN10A	0.00307	SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38770386,C,T&fts=all	T:0	Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Low_complexity_(Seg):seg,Superfamily_domains:SSF81324		V/I		T	low	2287/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=699&re=889&var=V763I	tolerated(0.06)		T:0	T:0	YES	SCN10A,missense_variant,p.Val763Ile,ENST00000449082,NM_006514.2;		T:0.0002					MODERATE	2287/5871	V763I	SCNAA_HUMAN		T:0	Transcript		probably_damaging(0.962)	common_variant	ENSP00000390600	0.000362	CCDS33736.1	0.00115	T:0.001	1	
DOCK5	0	LGGM	GRCh37	8	25222162	25222162	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	22	12	.	.	ENST00000276440.7:c.3065A>G	p.Asn1022Ser	p.N1022S	ENST00000276440	NM_024940.6	1022	aAt/aGt	0	1	1	UPI000022D4F3	0	NA	ENST00000276440		ENSG00000147459	23476		34	2.24		HGNC	p.N1022S		DOCK5		SNV							ENST00000276440	protein_coding	getma.org/?cm=var&var=hg19,8,25222162,A,G&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68		N/S		G	medium	3109/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=838&re=1037&var=N1022S	tolerated(0.11)				YES	DOCK5,missense_variant,p.Asn1022Ser,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Asn794Ser,ENST00000444569,;DOCK5,3_prime_UTR_variant,,ENST00000467709,;DOCK5,non_coding_transcript_exon_variant,,ENST00000481728,;							MODERATE	3065/5613	N1022S	DOCK5_HUMAN			Transcript		benign(0.025)	.	ENSP00000276440		CCDS6047.1			1	
KCTD7	0	LGGM	GRCh37	7	66248701	66248701	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	16	13	.	.	ENST00000284957.5:c.386G>A	p.Arg129Gln	p.R129Q	ENST00000284957	NM_001287062.1	129	cGg/cAg	0	1	1	UPI00000730D5	0	NA	ENST00000510829		ENSG00000243335	21957		29	1.905		HGNC	p.R142Q	rs747654464	KCTD7		SNV			1				ENST00000439720	protein_coding	getma.org/?cm=var&var=hg19,7,66248701,G,A&fts=all		hmmpanther:PTHR23101:SF49,hmmpanther:PTHR23101		R/Q		A	medium	540/3805	1.51E-05	getma.org/?cm=msa&ty=f&p=E9PFK9_HUMAN&rb=54&re=253&var=R142Q	deleterious(0.02)	C9JDA2_HUMAN,B3KMF1_HUMAN			YES	KCTD7,missense_variant,p.Arg169Gln,ENST00000380828,;KCTD7,missense_variant,p.Arg129Gln,ENST00000510829,NM_014504.2;RABGEF1,missense_variant,p.Arg129Gln,ENST00000284957,NM_001287062.1;RABGEF1,missense_variant,p.Arg142Gln,ENST00000439720,;RABGEF1,missense_variant,p.Arg129Gln,ENST00000450873,;RABGEF1,missense_variant,p.Arg143Gln,ENST00000437078,NM_001287061.1;KCTD7,missense_variant,p.Arg129Gln,ENST00000451741,;RABGEF1,non_coding_transcript_exon_variant,,ENST00000484547,;KCTD7,3_prime_UTR_variant,,ENST00000503687,;RABGEF1,intron_variant,,ENST00000607882,;							MODERATE	386/1476	R142Q				Transcript		possibly_damaging(0.701)	.	ENSP00000421124	8.24E-06	CCDS5535.1			1	
LDB2	0	LGGM	GRCh37	4	16504354	16504354	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	99	13	.	.	ENST00000304523.5:c.1034C>T	p.Ala345Val	p.A345V	ENST00000304523	NM_001290.3	345	gCg/gTg	0	1	1	UPI0000073D86	0	NA	ENST00000304523		ENSG00000169744	6533		112	1.995		HGNC	p.A343V		LDB2		SNV							ENST00000515064	protein_coding	getma.org/?cm=var&var=hg19,4,16504354,G,A&fts=all		hmmpanther:PTHR10378,hmmpanther:PTHR10378:SF8		A/V		A	medium	1358/2548		getma.org/?cm=msa&ty=f&p=LDB2_HUMAN&rb=234&re=373&var=A345V	tolerated(0.05)	Q4W5E7_HUMAN,D6RAT1_HUMAN			YES	LDB2,missense_variant,p.Ala345Val,ENST00000304523,NM_001290.3;LDB2,missense_variant,p.Ala343Val,ENST00000515064,;LDB2,missense_variant,p.Ala266Val,ENST00000507464,;LDB2,3_prime_UTR_variant,,ENST00000502640,;LDB2,3_prime_UTR_variant,,ENST00000441778,NM_001130834.1;LDB2,downstream_gene_variant,,ENST00000503178,;RP11-446J8.1,intron_variant,,ENST00000512370,;LDB2,non_coding_transcript_exon_variant,,ENST00000509803,;LDB2,downstream_gene_variant,,ENST00000508918,;							MODERATE	1034/1122	A345V	LDB2_HUMAN			Transcript		benign(0.048)	.	ENSP00000306772		CCDS3420.1			1	
HELLS	0	LGGM	GRCh37	10	96341262	96341262	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	18	14	.	.	ENST00000348459.5:c.1212A>G	p.Val404=	p.V404=	ENST00000348459	NM_018063.3	404	gtA/gtG	0	1	1	UPI000006F63A	0		ENST00000348459		ENSG00000119969	4861		32			HGNC	p.V404V		HELLS		SNV							ENST00000348459	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF547,hmmpanther:PTHR10799		V		G		1317/3099				B1ALG6_HUMAN			YES	HELLS,synonymous_variant,p.=,ENST00000348459,NM_018063.3;HELLS,synonymous_variant,p.=,ENST00000371332,;HELLS,3_prime_UTR_variant,,ENST00000394036,;HELLS,3_prime_UTR_variant,,ENST00000239026,;HELLS,intron_variant,,ENST00000394045,;HELLS,downstream_gene_variant,,ENST00000394044,;RP11-119K6.6,intron_variant,,ENST00000432120,;							LOW	1212/2517		HELLS_HUMAN			Transcript			.	ENSP00000239027		CCDS7434.1			1	
DOCK5	0	LGGM	GRCh37	8	25226201	25226201	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	47	17	.	.	ENST00000276440.7:c.3398A>G	p.Gln1133Arg	p.Q1133R	ENST00000276440	NM_024940.6	1133	cAg/cGg	0	1	1	UPI000022D4F3	0	NA	ENST00000276440		ENSG00000147459	23476		64	1.92		HGNC	p.Q1133R		DOCK5		SNV							ENST00000276440	protein_coding	getma.org/?cm=var&var=hg19,8,25226201,A,G&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68,Superfamily_domains:SSF48371		Q/R		G	medium	3442/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=1132&re=1641&var=Q1133R	tolerated(0.06)				YES	DOCK5,missense_variant,p.Gln1133Arg,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Gln905Arg,ENST00000444569,;DOCK5,splice_region_variant,,ENST00000467709,;DOCK5,downstream_gene_variant,,ENST00000481728,;							MODERATE	3398/5613	Q1133R	DOCK5_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000276440		CCDS6047.1			1	
DIAPH1	0	LGGM	GRCh37	5	140958109	140958109	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	39	19	.	.	ENST00000398557.4:c.1017G>A	p.Met339Ile	p.M339I	ENST00000398557	NM_005219.4	339	atG/atA	0	1		UPI0001E8F44E	0	getma.org/pdb.php?prot=DIAP1_HUMAN&from=274&to=466&var=M339I	ENST00000389054		ENSG00000131504	2876		58	1.32		HGNC	p.M330I		DIAPH1		SNV			1				ENST00000389057	protein_coding	getma.org/?cm=var&var=hg19,5,140958109,C,T&fts=all		PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF17,Pfam_domain:PF06367,Superfamily_domains:SSF48371		M/I		T	low	1158/5786		getma.org/?cm=msa&ty=f&p=DIAP1_HUMAN&rb=274&re=466&var=M339I	deleterious(0.01)	Q7KZJ7_HUMAN,Q6UUU0_HUMAN,E9PEZ3_HUMAN,E7ERW8_HUMAN,E5RJ79_HUMAN				DIAPH1,missense_variant,p.Met339Ile,ENST00000253811,;DIAPH1,missense_variant,p.Met339Ile,ENST00000398557,NM_005219.4;DIAPH1,missense_variant,p.Met339Ile,ENST00000389054,;DIAPH1,missense_variant,p.Met330Ile,ENST00000398566,;DIAPH1,missense_variant,p.Met330Ile,ENST00000389057,NM_001079812.2;DIAPH1,missense_variant,p.Met330Ile,ENST00000398562,;DIAPH1,missense_variant,p.Met285Ile,ENST00000520569,;DIAPH1,missense_variant,p.Met330Ile,ENST00000518047,;DIAPH1,downstream_gene_variant,,ENST00000524301,;DIAPH1,missense_variant,p.Met330Ile,ENST00000521457,;DIAPH1,3_prime_UTR_variant,,ENST00000523100,;DIAPH1,non_coding_transcript_exon_variant,,ENST00000472516,;							MODERATE	1017/3810	M339I				Transcript		possibly_damaging(0.7)	.	ENSP00000373706					1	
DMD	0	LGGM	GRCh37	X	32383135	32383135	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	50	20	.	.	ENST00000357033.4:c.5025+2T>C		p.X1675_splice	ENST00000357033	NM_004007.2			0	1	1	UPI000049E111	0		ENST00000357033		ENSG00000198947	2928		70			HGNC	-		DMD		SNV			1				ENST00000357033	protein_coding							G		-/13956				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			YES	DMD,splice_donor_variant,,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,splice_donor_variant,,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,splice_donor_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;							HIGH	5025/11058					Transcript			.	ENSP00000354923		CCDS14233.1			1	
ERC1	0	LGGM	GRCh37	12	1219376	1219376	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	23	20	.	.	ENST00000397203.2:c.1180A>G	p.Met394Val	p.M394V	ENST00000397203		394	Atg/Gtg	0	1		UPI000007479C	0	NA	ENST00000360905		ENSG00000082805	17072		43	1.39		HGNC	p.M394V		ERC1		SNV			1				ENST00000397203	protein_coding	getma.org/?cm=var&var=hg19,12,1219376,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1		M/V		G	low	1361/5789		getma.org/?cm=msa&ty=f&p=RB6I2_HUMAN&rb=154&re=982&var=M394V	deleterious(0.01)	K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,missense_variant,p.Met394Val,ENST00000397203,;ERC1,missense_variant,p.Met394Val,ENST00000543086,NM_178039.2;ERC1,missense_variant,p.Met394Val,ENST00000589028,NM_178040.2;ERC1,missense_variant,p.Met394Val,ENST00000355446,;ERC1,missense_variant,p.Met394Val,ENST00000360905,;ERC1,missense_variant,p.Met394Val,ENST00000546231,;ERC1,missense_variant,p.Met243Val,ENST00000592048,;ERC1,non_coding_transcript_exon_variant,,ENST00000536573,;ERC1,missense_variant,p.Met394Val,ENST00000440394,;ERC1,missense_variant,p.Met394Val,ENST00000347735,;ERC1,missense_variant,p.Met394Val,ENST00000542302,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;ERC1,non_coding_transcript_exon_variant,,ENST00000539007,;ERC1,intron_variant,,ENST00000545948,;							MODERATE	1180/3351	M394V	RB6I2_HUMAN			Transcript		benign(0.101)	.	ENSP00000354158		CCDS8508.1			1	
NETO2	0	LGGM	GRCh37	16	47117191	47117191	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	44	23	.	.	ENST00000562435.1:c.1519G>T	p.Glu507Ter	p.E507*	ENST00000562435	NM_018092.4	507	Gaa/Taa	0	1	1	UPI000003C718	0	NA	ENST00000562435		ENSG00000171208	14644		67	0		HGNC	p.E500X		NETO2		SNV							ENST00000303155	protein_coding	getma.org/?cm=var&var=hg19,16,47117191,C,A&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF314		E/*		A	NA	1904/7481		NA					YES	NETO2,stop_gained,p.Glu507Ter,ENST00000562435,NM_018092.4;NETO2,stop_gained,p.Glu500Ter,ENST00000303155,NM_001201477.1;NETO2,stop_gained,p.Glu347Ter,ENST00000562559,;NETO2,stop_gained,p.Glu210Ter,ENST00000564667,;NETO2,downstream_gene_variant,,ENST00000563078,;							HIGH	1519/1578	E507*	NETO2_HUMAN			Transcript			.	ENSP00000455169		CCDS10727.1			1	
FAM25C	0	LGGM	GRCh37	10	49203507	49203507	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	197	23	.	.	ENST00000342763.4:c.174G>A	p.Gly58=	p.G58=	ENST00000342763	NM_001137548.1	58	ggG/ggA	0	1	1	UPI00003666A7	0		ENST00000342763		ENSG00000188279	23586		220			HGNC	p.G58G		FAM25C		SNV							ENST00000342763	protein_coding			Prints_domain:PR02048		G		T		193/301							YES	FAM25C,synonymous_variant,p.=,ENST00000342763,NM_001137548.1;FAM25C,intron_variant,,ENST00000479781,;							LOW	174/270		FM25C_HUMAN			Transcript			.	ENSP00000341481		CCDS44383.1			1	
DST	0	LGGM	GRCh37	6	56347658	56347658	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	24	24	.	.	ENST00000244364.6:c.13356G>C	p.Leu4452Phe	p.L4452F	ENST00000244364	NM_015548.4	4452	ttG/ttC	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		48	2.9		HGNC	p.L4778F		DST		SNV			1				ENST00000421834	protein_coding	getma.org/?cm=var&var=hg19,6,56347658,C,G&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966		L/F		G	medium	13564/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=6816&re=6919&var=L6864F		Q86T18_HUMAN			YES	DST,missense_variant,p.Leu7044Phe,ENST00000370754,;DST,missense_variant,p.Leu6866Phe,ENST00000370769,;DST,missense_variant,p.Leu6540Phe,ENST00000446842,;DST,missense_variant,p.Leu6755Phe,ENST00000361203,;DST,missense_variant,p.Leu4669Phe,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Leu4778Phe,ENST00000421834,;DST,missense_variant,p.Leu4452Phe,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,downstream_gene_variant,,ENST00000487754,;DST,upstream_gene_variant,,ENST00000517840,;							MODERATE	13356/15516	L6864F	DYST_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000244364		CCDS47443.1			1	
SAG	0	LGGM	GRCh37	2	234243658	234243658	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104025	H104025N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	55	29	.	.	ENST00000409110.1:c.857C>A	p.Pro286His	p.P286H	ENST00000409110	NM_000541.4	286	cCc/cAc	0	1	1	UPI000013CD8D	0	getma.org/pdb.php?prot=ARRS_HUMAN&from=203&to=364&var=P286H	ENST00000409110		ENSG00000130561	10521		84	3.225		HGNC	p.P286H	rs750518574	SAG		SNV			1				ENST00000409110	protein_coding	getma.org/?cm=var&var=hg19,2,234243658,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11792:SF15,hmmpanther:PTHR11792,Pfam_domain:PF02752,Gene3D:1g4mB02,SMART_domains:SM01017,Superfamily_domains:SSF81296		P/H		A	medium	1087/1591	1.50E-05	getma.org/?cm=msa&ty=f&p=ARRS_HUMAN&rb=203&re=364&var=P286H	deleterious(0)	E7ESX4_HUMAN,A0FDN6_HUMAN			YES	SAG,missense_variant,p.Pro286His,ENST00000409110,NM_000541.4;SAG,missense_variant,p.Pro152His,ENST00000449594,;SAG,non_coding_transcript_exon_variant,,ENST00000476500,;SAG,non_coding_transcript_exon_variant,,ENST00000469222,;SAG,non_coding_transcript_exon_variant,,ENST00000471884,;SAG,non_coding_transcript_exon_variant,,ENST00000412969,;SAG,non_coding_transcript_exon_variant,,ENST00000483231,;SAG,non_coding_transcript_exon_variant,,ENST00000473771,;SAG,upstream_gene_variant,,ENST00000474220,;							MODERATE	857/1218	P286H	ARRS_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386444	8.25E-06	CCDS46545.1			1	
C7orf25	0	LGGM	GRCh37	7	42950228	42950228	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	39	32	.	.	ENST00000431882.2:c.446T>G	p.Val149Gly	p.V149G	ENST00000431882		149	gTc/gGc	0	1		UPI000006E5D9	0	NA	ENST00000350427		ENSG00000136197	21703		71	2.135		HGNC	p.V91G		C7orf25		SNV							ENST00000447342	protein_coding	getma.org/?cm=var&var=hg19,7,42950228,A,C&fts=all		Pfam_domain:PF07000,hmmpanther:PTHR13379		V/G		C	medium	548/2451		getma.org/?cm=msa&ty=f&p=CG025_HUMAN&rb=37&re=401&var=V91G	tolerated(0.1)	C9K0L6_HUMAN,C9JF90_HUMAN				C7orf25,missense_variant,p.Val91Gly,ENST00000350427,;C7orf25,missense_variant,p.Val91Gly,ENST00000447342,NM_024054.2,NM_001099858.1;C7orf25,missense_variant,p.Val91Gly,ENST00000438029,;C7orf25,missense_variant,p.Val149Gly,ENST00000431882,;C7orf25,missense_variant,p.Val91Gly,ENST00000425683,;C7orf25,downstream_gene_variant,,ENST00000432637,;PSMA2,3_prime_UTR_variant,,ENST00000442788,;PSMA2,downstream_gene_variant,,ENST00000433579,;							MODERATE	272/1266	V91G	CG025_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000343364		CCDS5466.1			1	
DACH1	0	LGGM	GRCh37	13	72049877	72049877	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104025	H104025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	31	33	.	.	ENST00000305425.4:c.1981A>G	p.Lys661Glu	p.K661E	ENST00000305425	NM_080759.4	661	Aaa/Gaa	0	1	1	UPI00001FCE9E	0	NA	ENST00000305425		ENSG00000165659	2663		64	2.22		HGNC	p.K459E		DACH1		SNV							ENST00000354591	protein_coding	getma.org/?cm=var&var=hg19,13,72049877,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12577,hmmpanther:PTHR12577:SF14		K/E		C	medium	2404/5239		getma.org/?cm=msa&ty=f&p=DACH1_HUMAN&rb=292&re=756&var=K711E					YES	DACH1,missense_variant,p.Lys661Glu,ENST00000305425,NM_080759.4;DACH1,missense_variant,p.Lys513Glu,ENST00000313174,NM_080760.4;DACH1,missense_variant,p.Lys459Glu,ENST00000354591,NM_004392.5;DACH1,missense_variant,p.Lys713Glu,ENST00000359684,;							MODERATE	1981/2127	K711E	DACH1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000304994		CCDS41899.1			1	
PLAT	0	LGGM	GRCh37	8	42037863	42037863	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	62	33	.	.	ENST00000220809.4:c.1119C>T	p.Gly373=	p.G373=	ENST00000220809	NM_000930.3	373	ggC/ggT	0	1	1	UPI0000000DD4	0		ENST00000220809		ENSG00000104368	9051		95			HGNC	p.G310G		PLAT		SNV							ENST00000519510	protein_coding			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		G		A		1376/2706				Q6LBF5_HUMAN,E5RHG4_HUMAN,E5RGA1_HUMAN			YES	PLAT,synonymous_variant,p.=,ENST00000220809,NM_000930.3;PLAT,synonymous_variant,p.=,ENST00000429089,;PLAT,synonymous_variant,p.=,ENST00000352041,NM_033011.2;PLAT,synonymous_variant,p.=,ENST00000519510,;PLAT,synonymous_variant,p.=,ENST00000429710,;PLAT,synonymous_variant,p.=,ENST00000524009,;PLAT,intron_variant,,ENST00000270189,;PLAT,3_prime_UTR_variant,,ENST00000521042,;PLAT,non_coding_transcript_exon_variant,,ENST00000522812,;PLAT,downstream_gene_variant,,ENST00000521647,;PLAT,downstream_gene_variant,,ENST00000524261,;							LOW	1119/1689		TPA_HUMAN			Transcript			.	ENSP00000220809		CCDS6126.1			1	
NCKAP5	0	LGGM	GRCh37	2	133543238	133543238	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	69	33	.	.	ENST00000409261.1:c.1146T>G	p.Ser382Arg	p.S382R	ENST00000409261	NM_207363.2	382	agT/agG	0	1	1	UPI0000E07A3F	0	NA	ENST00000409261		ENSG00000176771	29847		102	0.975		HGNC	p.S382R		NCKAP5		SNV							ENST00000317721	protein_coding	getma.org/?cm=var&var=hg19,2,133543238,A,C&fts=all		hmmpanther:PTHR21740,hmmpanther:PTHR21740:SF0		S/R		C	low	1520/7592		getma.org/?cm=msa&ty=f&p=NCKP5_HUMAN&rb=241&re=1908&var=S382R	deleterious(0)	C9JYL7_HUMAN			YES	NCKAP5,missense_variant,p.Ser382Arg,ENST00000409261,NM_207363.2;NCKAP5,missense_variant,p.Ser382Arg,ENST00000317721,;NCKAP5,intron_variant,,ENST00000409213,NM_207481.3;NCKAP5,intron_variant,,ENST00000405974,;NCKAP5,upstream_gene_variant,,ENST00000473859,;							MODERATE	1146/5730	S382R	NCKP5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000387128		CCDS46418.1			1	
ANK2	0	LGGM	GRCh37	4	114275555	114275555	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	14	38	.	.	ENST00000357077.4:c.5781A>C	p.Pro1927=	p.P1927=	ENST00000357077	NM_001148.4	1927	ccA/ccC	0	1	1	UPI0000441EF3	0		ENST00000357077		ENSG00000145362	493		52			HGNC	p.P1894P		ANK2		SNV			1				ENST00000264366	protein_coding			hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		P		C		5834/14196				D6RHC5_HUMAN			YES	ANK2,synonymous_variant,p.=,ENST00000357077,NM_001148.4;ANK2,synonymous_variant,p.=,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,;							LOW	5781/11874		ANK2_HUMAN			Transcript			.	ENSP00000349588		CCDS3702.1			1	
CAPNS2	0	LGGM	GRCh37	16	55601380	55601380	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104025	H104025N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	31	51	.	.	ENST00000457326.2:c.712A>G	p.Ile238Val	p.I238V	ENST00000457326	NM_032330.1	238	Atc/Gtc	0	1	1	UPI0000071268	0	getma.org/pdb.php?prot=CPNS2_HUMAN&from=214&to=248&var=I238V	ENST00000457326		ENSG00000256812	16371		82	1.275		HGNC	p.I238V		CAPNS2		SNV							ENST00000457326	protein_coding	getma.org/?cm=var&var=hg19,16,55601380,A,G&fts=all		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF140,Superfamily_domains:SSF47473		I/V		G	low	797/1016		getma.org/?cm=msa&ty=f&p=CPNS2_HUMAN&rb=214&re=248&var=I238V	tolerated(0.83)				YES	CAPNS2,missense_variant,p.Ile238Val,ENST00000457326,NM_032330.1;LPCAT2,intron_variant,,ENST00000262134,NM_017839.4;LPCAT2,intron_variant,,ENST00000565056,;LPCAT2,intron_variant,,ENST00000566915,;LPCAT2,intron_variant,,ENST00000563095,;							MODERATE	712/747	I238V	CPNS2_HUMAN			Transcript		benign(0.001)	.	ENSP00000400882		CCDS54010.1			1	
MTR	0	LGGM	GRCh37	1	236998950	236998950	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104025	H104025N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	72	71	.	.	ENST00000366577.5:c.1292T>A	p.Phe431Tyr	p.F431Y	ENST00000366577	NM_000254.2	431	tTt/tAt	0	1	1	UPI0000036BC4	0	getma.org/pdb.php?prot=METH_HUMAN&from=371&to=583&var=F431Y	ENST00000366577		ENSG00000116984	7468		143	2.81		HGNC	p.F12Y		MTR		SNV			1				ENST00000366576	protein_coding	getma.org/?cm=var&var=hg19,1,236998950,T,A&fts=all		Superfamily_domains:SSF51717,PIRSF_domain:PIRSF000381,Pfam_domain:PF00809,TIGRFAM_domain:TIGR02082,Gene3D:3.20.20.20,hmmpanther:PTHR21091:SF97,hmmpanther:PTHR21091,PROSITE_profiles:PS50972		F/Y		A	medium	1686/10529		getma.org/?cm=msa&ty=f&p=METH_HUMAN&rb=371&re=583&var=F431Y	deleterious(0.05)				YES	MTR,missense_variant,p.Phe431Tyr,ENST00000366577,NM_000254.2;MTR,missense_variant,p.Phe12Tyr,ENST00000366576,;MTR,missense_variant,p.Phe431Tyr,ENST00000535889,;MTR,non_coding_transcript_exon_variant,,ENST00000463959,;							MODERATE	1292/3798	F431Y	METH_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355536		CCDS1614.1			1	
PSG3	0	LGGM	GRCh37	19	43243077	43243077	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104025	H104025N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104025N.bam, H104025T.bam	Illumina HiSeq	134	84	.	.	ENST00000327495.5:c.229C>A	p.His77Asn	p.H77N	ENST00000327495	NM_021016.3	77	Cat/Aat	0	1	1	UPI0000073DC1	0	getma.org/pdb.php?prot=PSG3_HUMAN&from=33&to=140&var=H77N	ENST00000327495		ENSG00000221826	9520		218	1.835		HGNC	p.H77N		PSG3		SNV							ENST00000327495	protein_coding	getma.org/?cm=var&var=hg19,19,43243077,G,T&fts=all		hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		H/N		T	low	414/1961		getma.org/?cm=msa&ty=f&p=PSG3_HUMAN&rb=33&re=140&var=H77N	deleterious(0.04)				YES	PSG3,missense_variant,p.His77Asn,ENST00000327495,NM_021016.3;PSG3,missense_variant,p.His77Asn,ENST00000595140,;PSG3,non_coding_transcript_exon_variant,,ENST00000490592,;PSG3,missense_variant,p.His6Asn,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;							MODERATE	229/1287	H77N	PSG3_HUMAN			Transcript		benign(0.2)	.	ENSP00000332215		CCDS12611.1			1	
TGFB1	0	LGGM	GRCh37	19	41858637	41858637	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	8	2	.	.	ENST00000221930.5:c.313G>T	p.Ala105Ser	p.A105S	ENST00000221930	NM_000660.4	105	Gcc/Tcc	0	1	1	UPI000013C7E1	0	getma.org/pdb.php?prot=TGFB1_HUMAN&from=9&to=261&var=A105S	ENST00000221930		ENSG00000105329	11766		10	2.265		HGNC	p.A105S		TGFB1		SNV			1				ENST00000221930	protein_coding	getma.org/?cm=var&var=hg19,19,41858637,C,A&fts=all		Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF125		A/S		A	medium	1180/2769		getma.org/?cm=msa&ty=f&p=TGFB1_HUMAN&rb=9&re=261&var=A105S	deleterious(0.01)	Q7Z488_HUMAN,Q7Z487_HUMAN,Q5PY19_HUMAN			YES	TGFB1,missense_variant,p.Ala105Ser,ENST00000221930,NM_000660.4;TMEM91,intron_variant,,ENST00000539627,;B9D2,downstream_gene_variant,,ENST00000243578,NM_030578.3;TMEM91,upstream_gene_variant,,ENST00000604123,;CTC-435M10.3,intron_variant,,ENST00000604424,;B9D2,downstream_gene_variant,,ENST00000594416,;TGFB1,upstream_gene_variant,,ENST00000597453,;							MODERATE	313/1173	A105S	TGFB1_HUMAN			Transcript		possibly_damaging(0.687)	.	ENSP00000221930		CCDS33031.1			1	
ALS2CL	0	LGGM	GRCh37	3	46724751	46724751	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	12	2	.	.	ENST00000318962.4:c.978C>A	p.Pro326=	p.P326=	ENST00000318962	NM_147129.3	326	ccC/ccA	0	1	1	UPI00001B5641	0		ENST00000318962		ENSG00000178038	20605		14			HGNC	p.P326P		ALS2CL		SNV							ENST00000431015	protein_coding			hmmpanther:PTHR23084,hmmpanther:PTHR23084:SF114		P		T		1062/4741				G3V0I7_HUMAN			YES	ALS2CL,synonymous_variant,p.=,ENST00000318962,NM_147129.3;ALS2CL,synonymous_variant,p.=,ENST00000415953,NM_001190707.1;ALS2CL,synonymous_variant,p.=,ENST00000450172,;ALS2CL,synonymous_variant,p.=,ENST00000431015,;ALS2CL,synonymous_variant,p.=,ENST00000423707,;ALS2CL,synonymous_variant,p.=,ENST00000434140,;							LOW	978/2862		AL2CL_HUMAN			Transcript			.	ENSP00000313670		CCDS2743.1			1	
EDEM2	0	LGGM	GRCh37	20	33734704	33734704	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	9	2	.	.	ENST00000374492.3:c.142G>T	p.Asp48Tyr	p.D48Y	ENST00000374492	NM_018217.2	48	Gac/Tac	0	1	1	UPI00001285D9	0	getma.org/pdb.php?prot=EDEM2_HUMAN&from=42&to=482&var=D48Y	ENST00000374492		ENSG00000088298	15877		11	2.73		HGNC	p.D7Y		EDEM2		SNV							ENST00000540582	protein_coding	getma.org/?cm=var&var=hg19,20,33734704,C,A&fts=all		Gene3D:1.50.10.50,Pfam_domain:PF01532,Prints_domain:PR00747,hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26,Superfamily_domains:SSF48225		D/Y		A	medium	248/1912		getma.org/?cm=msa&ty=f&p=EDEM2_HUMAN&rb=42&re=482&var=D48Y	deleterious(0)	B4E1F4_HUMAN			YES	EDEM2,missense_variant,p.Asp7Tyr,ENST00000540582,;EDEM2,missense_variant,p.Asp48Tyr,ENST00000374492,NM_018217.2;EDEM2,5_prime_UTR_variant,,ENST00000542871,;EDEM2,intron_variant,,ENST00000374491,NM_001145025.1;EDEM2,upstream_gene_variant,,ENST00000541621,;							MODERATE	142/1737	D48Y	EDEM2_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000363616		CCDS13247.1			1	
C2orf72	0	LGGM	GRCh37	2	231911721	231911721	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	7	2	.	.	ENST00000373640.4:c.873C>A	p.Thr291=	p.T291=	ENST00000373640	NM_001144994.1	291	acC/acA	0	1	1	UPI00004190AD	0		ENST00000373640		ENSG00000204128	27418		9			HGNC	p.T291T		C2orf72		SNV							ENST00000373640	protein_coding			Pfam_domain:PF15443		T		A		949/3657							YES	C2orf72,synonymous_variant,p.=,ENST00000373640,NM_001144994.1;C2orf72,non_coding_transcript_exon_variant,,ENST00000477463,;C2orf72,non_coding_transcript_exon_variant,,ENST00000463834,;							LOW	873/888		CB072_HUMAN			Transcript			.	ENSP00000362743		CCDS46539.1			1	
VAC14	0	LGGM	GRCh37	16	70806067	70806067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	7	2	.	.	ENST00000261776.5:c.1105G>T	p.Asp369Tyr	p.D369Y	ENST00000261776	NM_018052.3	369	Gat/Tat	0	1	1	UPI00001A832B	0	NA	ENST00000261776		ENSG00000103043	25507		9	1.79		HGNC	p.D369Y		VAC14		SNV							ENST00000261776	protein_coding	getma.org/?cm=var&var=hg19,16,70806067,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16023:SF0,hmmpanther:PTHR16023		D/Y		A	low	1366/3099		getma.org/?cm=msa&ty=f&p=VAC14_HUMAN&rb=364&re=540&var=D369Y	deleterious(0.01)	Q9NTB8_HUMAN,B3KSM8_HUMAN			YES	VAC14,missense_variant,p.Asp369Tyr,ENST00000261776,NM_018052.3;VAC14-AS1,non_coding_transcript_exon_variant,,ENST00000562507,;VAC14-AS1,non_coding_transcript_exon_variant,,ENST00000398177,;VAC14,3_prime_UTR_variant,,ENST00000568548,;VAC14,intron_variant,,ENST00000568886,;							MODERATE	1105/2349	D369Y	VAC14_HUMAN			Transcript		benign(0.326)	.	ENSP00000261776		CCDS10896.1			1	
FERMT2	0	LGGM	GRCh37	14	53325252	53325252	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	3	.	.	ENST00000343279.4:c.1907C>T	p.Ala636Val	p.A636V	ENST00000343279	NM_001134999.1	636	gCa/gTa	0	1		UPI0000073CC9	0	getma.org/pdb.php?prot=FERM2_HUMAN&from=189&to=661&var=A629V	ENST00000341590		ENSG00000073712	15767		34	0.345		HGNC	p.A636V		FERMT2		SNV							ENST00000553373	protein_coding	getma.org/?cm=var&var=hg19,14,53325252,G,A&fts=all		Superfamily_domains:SSF50729,Gene3D:2.30.29.30,hmmpanther:PTHR16160,hmmpanther:PTHR16160:SF11		A/V		A	neutral	2072/3338		getma.org/?cm=msa&ty=f&p=FERM2_HUMAN&rb=189&re=661&var=A629V	deleterious(0)	G3V3J0_HUMAN,G3V281_HUMAN				FERMT2,missense_variant,p.Ala629Val,ENST00000395631,;FERMT2,missense_variant,p.Ala636Val,ENST00000343279,NM_001134999.1;FERMT2,missense_variant,p.Ala629Val,ENST00000341590,NM_006832.2;FERMT2,missense_variant,p.Ala589Val,ENST00000554152,;FERMT2,missense_variant,p.Ala636Val,ENST00000553373,;FERMT2,downstream_gene_variant,,ENST00000399304,NM_001135000.1;FERMT2,downstream_gene_variant,,ENST00000553663,;FERMT2,non_coding_transcript_exon_variant,,ENST00000557255,;FERMT2,downstream_gene_variant,,ENST00000553768,;FERMT2,non_coding_transcript_exon_variant,,ENST00000555546,;							MODERATE	1886/2043	A629V	FERM2_HUMAN			Transcript		benign(0.036)	.	ENSP00000340391		CCDS9713.1			1	
GUCY2D	0	LGGM	GRCh37	17	7912905	7912905	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	47	3	.	.	ENST00000254854.4:c.1749+1G>T		p.X583_splice	ENST00000254854	NM_000180.3			0	1	1	UPI0000128C1C	0		ENST00000254854		ENSG00000132518	4689		50			HGNC	-		GUCY2D		SNV			1				ENST00000254854	protein_coding							T		-/3698							YES	GUCY2D,splice_donor_variant,,ENST00000254854,NM_000180.3;							HIGH	1749/3312		GUC2D_HUMAN			Transcript			.	ENSP00000254854		CCDS11127.1			1	
COL22A1	0	LGGM	GRCh37	8	139701159	139701159	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	46	3	.	.	ENST00000303045.6:c.2862+1G>T		p.X954_splice	ENST00000303045	NM_152888.1			0	1	1	UPI00001C1EA1	0		ENST00000303045		ENSG00000169436	22989		49			HGNC	-		COL22A1		SNV							ENST00000303045	protein_coding							A		-/6346							YES	COL22A1,splice_donor_variant,,ENST00000303045,NM_152888.1;COL22A1,splice_donor_variant,,ENST00000435777,;COL22A1,splice_donor_variant,,ENST00000341807,;							HIGH	2862/4881		COMA1_HUMAN			Transcript			.	ENSP00000303153		CCDS6376.1			1	
TP53	0	LGGM	GRCh37	17	7578524	7578524	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	6	3	.	.	ENST00000269305.4:c.406C>G	p.Gln136Glu	p.Q136E	ENST00000269305	NM_001126112.2	136	Caa/Gaa	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Q136E	ENST00000269305		ENSG00000141510	11998		9	2.75		HGNC	p.Q136E	TP53_g.12394C>G,COSM43767,COSM437597,COSM437598,COSM437600,COSM3403290,COSM2153121,COSM437599	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000508793	protein_coding	getma.org/?cm=var&var=hg19,17,7578524,G,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Q/E		C	medium	596/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Q136E	deleterious(0)	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			YES	TP53,missense_variant,p.Gln136Glu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Gln136Glu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Gln136Glu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Gln136Glu,ENST00000445888,;TP53,missense_variant,p.Gln136Glu,ENST00000359597,;TP53,missense_variant,p.Gln136Glu,ENST00000413465,;TP53,missense_variant,p.Gln4Glu,ENST00000509690,;TP53,missense_variant,p.Gln136Glu,ENST00000508793,;TP53,missense_variant,p.Gln129Glu,ENST00000604348,;TP53,missense_variant,p.Gln43Glu,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,;					0,1,1,1,1,1,1,1		MODERATE	406/1182	Q136E	P53_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000269305		CCDS11118.1			1	
PTPRT	0	LGGM	GRCh37	20	40714412	40714412	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	32	3	.	.	ENST00000373198.4:c.3985G>C	p.Glu1329Gln	p.E1329Q	ENST00000373198	NM_133170.3	1329	Gag/Cag	0	1	1	UPI0000246C03	0	getma.org/pdb.php?prot=PTPRT_HUMAN&from=1202&to=1436&var=E1310Q	ENST00000373187		ENSG00000196090	9682		35	1.215		HGNC	p.E1320Q		PTPRT		SNV							ENST00000373184	protein_coding	getma.org/?cm=var&var=hg19,20,40714412,C,G&fts=all		PROSITE_profiles:PS50055,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,Superfamily_domains:SSF52799		E/Q		G	low	3928/12453		getma.org/?cm=msa&ty=f&p=PTPRT_HUMAN&rb=1202&re=1436&var=E1310Q	tolerated(0.31)				YES	PTPRT,missense_variant,p.Glu1329Gln,ENST00000373198,NM_133170.3;PTPRT,missense_variant,p.Glu1300Gln,ENST00000373201,;PTPRT,missense_variant,p.Glu1313Gln,ENST00000373193,NM_007050.5;PTPRT,missense_variant,p.Glu1309Gln,ENST00000373190,;PTPRT,missense_variant,p.Glu1320Gln,ENST00000373184,;PTPRT,missense_variant,p.Glu1319Gln,ENST00000356100,;PTPRT,missense_variant,p.Glu1310Gln,ENST00000373187,;							MODERATE	3928/4326	E1310Q	PTPRT_HUMAN			Transcript		benign(0.086)	.	ENSP00000362283		CCDS42874.1			1	
SETD1A	0	LGGM	GRCh37	16	30970144	30970144	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	35	3	.	.	ENST00000262519.8:c.92C>T	p.Ala31Val	p.A31V	ENST00000262519	NM_014712.1	31	gCc/gTc	0	1	1	UPI00001C1FA9	0	NA	ENST00000262519		ENSG00000099381	29010		38	0		HGNC	p.A31V		SETD1A		SNV							ENST00000262519	protein_coding	getma.org/?cm=var&var=hg19,16,30970144,C,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF295		A/V		T	neutral	778/6903		getma.org/?cm=msa&ty=f&p=SET1A_HUMAN&rb=1&re=98&var=A31V		C9J2Z9_HUMAN			YES	SETD1A,missense_variant,p.Ala31Val,ENST00000262519,NM_014712.1;SETD1A,missense_variant,p.Ala31Val,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,;							MODERATE	92/5124	A31V	SET1A_HUMAN			Transcript		benign(0.345)	.	ENSP00000262519		CCDS32435.1			1	
PRSS36	0	LGGM	GRCh37	16	31153205	31153205	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	44	3	.	.	ENST00000268281.4:c.1598G>T	p.Gly533Val	p.G533V	ENST00000268281	NM_173502.4	533	gGc/gTc	0	1	1	UPI00001FFF6A	0	getma.org/pdb.php?prot=POLS2_HUMAN&from=324&to=545&var=G533V	ENST00000268281		ENSG00000178226	26906		47	1.89		HGNC	p.G533V		PRSS36		SNV							ENST00000418068	protein_coding	getma.org/?cm=var&var=hg19,16,31153205,C,A&fts=all		Gene3D:2.40.10.10,PIRSF_domain:PIRSF037933,PROSITE_profiles:PS50240,hmmpanther:PTHR24276,hmmpanther:PTHR24276:SF4,SMART_domains:SM00020,Superfamily_domains:SSF50494		G/V		A	low	1657/2840		getma.org/?cm=msa&ty=f&p=POLS2_HUMAN&rb=324&re=545&var=G533V	deleterious(0.02)	B4DNP1_HUMAN			YES	PRSS36,missense_variant,p.Gly533Val,ENST00000268281,NM_173502.4,NM_001258290.1;PRSS36,missense_variant,p.Gly528Val,ENST00000569305,;PRSS36,missense_variant,p.Gly533Val,ENST00000418068,NM_001258291.1;PRSS36,non_coding_transcript_exon_variant,,ENST00000562368,;PRSS36,non_coding_transcript_exon_variant,,ENST00000563693,;PRSS36,upstream_gene_variant,,ENST00000571878,;							MODERATE	1598/2568	G533V	POLS2_HUMAN			Transcript		benign(0.061)	.	ENSP00000268281		CCDS32436.1			1	
WDR20	0	LGGM	GRCh37	14	102606368	102606368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	44	3	.	.	ENST00000454394.2:c.108C>A	p.Asn36Lys	p.N36K	ENST00000454394	NM_001242417.1	36	aaC/aaA	0	1		UPI000019C572	0	NA	ENST00000342702		ENSG00000140153	19667		47	1.64		HGNC	p.N36K		WDR20		SNV							ENST00000299135	protein_coding	getma.org/?cm=var&var=hg19,14,102606368,C,A&fts=all		hmmpanther:PTHR14107,hmmpanther:PTHR14107:SF5		N/K		A	low	139/2391		getma.org/?cm=msa&ty=f&p=WDR20_HUMAN&rb=1&re=200&var=N36K	deleterious(0.01)	Q5JPH5_HUMAN,H0YNU0_HUMAN,F5H8E6_HUMAN,B3KPG5_HUMAN				WDR20,missense_variant,p.Asn36Lys,ENST00000322340,NM_001242415.1;WDR20,missense_variant,p.Asn36Lys,ENST00000335263,NM_181291.2;WDR20,missense_variant,p.Asn36Lys,ENST00000342702,NM_144574.3,NM_001242418.1;WDR20,missense_variant,p.Asn36Lys,ENST00000556807,NM_001242416.1;WDR20,missense_variant,p.Asn36Lys,ENST00000299135,;WDR20,missense_variant,p.Asn36Lys,ENST00000556511,NM_181308.2;WDR20,missense_variant,p.Asn36Lys,ENST00000454394,NM_001242417.1;WDR20,missense_variant,p.Asn36Lys,ENST00000558567,;WDR20,5_prime_UTR_variant,,ENST00000424963,NM_001242414.1;WDR20,5_prime_UTR_variant,,ENST00000499851,;HSP90AA1,upstream_gene_variant,,ENST00000334701,NM_001017963.2;WDR20,non_coding_transcript_exon_variant,,ENST00000557186,;WDR20,non_coding_transcript_exon_variant,,ENST00000561154,;WDR20,intron_variant,,ENST00000557485,;HSP90AA1,upstream_gene_variant,,ENST00000558600,;WDR20,missense_variant,p.Asn36Lys,ENST00000555879,;WDR20,intron_variant,,ENST00000556094,;HSP90AA1,upstream_gene_variant,,ENST00000557234,;							MODERATE	108/1710	N36K	WDR20_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000341037		CCDS9969.1			1	
WNT3	0	LGGM	GRCh37	17	44846157	44846157	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	29	3	.	.	ENST00000225512.5:c.597G>T	p.Leu199=	p.L199=	ENST00000225512	NM_030753.4	199	ctG/ctT	0	1	1	UPI000003143C	0		ENST00000225512		ENSG00000108379	12782		32			HGNC	p.L199L		WNT3		SNV			1				ENST00000225512	protein_coding			hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF82,Pfam_domain:PF00110,SMART_domains:SM00097		L		A		760/3355							YES	WNT3,synonymous_variant,p.=,ENST00000225512,NM_030753.4;							LOW	597/1068		WNT3_HUMAN			Transcript			.	ENSP00000225512		CCDS11505.1			1	
FZR1	0	LGGM	GRCh37	19	3527674	3527674	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	22	3	.	.	ENST00000395095.3:c.516C>A	p.Ser172=	p.S172=	ENST00000395095	NM_001136198.1	172	tcC/tcA	0	1	1	UPI00001D6A23	0		ENST00000395095		ENSG00000105325	24824		25			HGNC	p.S172S		FZR1		SNV							ENST00000395095	protein_coding			hmmpanther:PTHR19918,hmmpanther:PTHR19918:SF6,Superfamily_domains:SSF50978		S		A		516/1491							YES	FZR1,synonymous_variant,p.=,ENST00000441788,NM_016263.3;FZR1,synonymous_variant,p.=,ENST00000395095,NM_001136198.1;FZR1,intron_variant,,ENST00000313639,NM_001136197.1;FZR1,synonymous_variant,p.=,ENST00000591290,;FZR1,non_coding_transcript_exon_variant,,ENST00000592214,;FZR1,downstream_gene_variant,,ENST00000588327,;FZR1,upstream_gene_variant,,ENST00000586212,;							LOW	516/1491		FZR_HUMAN			Transcript			.	ENSP00000378529		CCDS45916.1			1	
OR51I2	0	LGGM	GRCh37	11	5474854	5474854	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	3	.	.	ENST00000341449.2:c.136C>A	p.Leu46Met	p.L46M	ENST00000341449	NM_001004754.2	46	Ctg/Atg	0	1	1	UPI0000041CD1	0	getma.org/pdb.php?prot=O51I2_HUMAN&from=1&to=139&var=L46M	ENST00000341449		ENSG00000187918	15201		34	2.105		HGNC	p.L46M		OR51I2		SNV							ENST00000341449	protein_coding	getma.org/?cm=var&var=hg19,11,5474854,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF112,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/M		A	medium	217/1070		getma.org/?cm=msa&ty=f&p=O51I2_HUMAN&rb=1&re=139&var=L46M	deleterious(0.03)				YES	OR51I2,missense_variant,p.Leu46Met,ENST00000341449,NM_001004754.2;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,;							MODERATE	136/939	L46M	O51I2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000341987		CCDS31383.1			1	
TAF1	0	LGGM	GRCh37	X	70596801	70596801	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	16	3	.	.	ENST00000276072.3:c.534G>T	p.Val178=	p.V178=	ENST00000276072		178	gtG/gtT	0	1		UPI00001367DD	0		ENST00000373790		ENSG00000147133	11535		19			HGNC	p.V178V		TAF1		SNV			1				ENST00000276072	protein_coding							T		-/7629								TAF1,splice_region_variant,p.=,ENST00000423759,NM_001286074.1;TAF1,splice_region_variant,p.=,ENST00000276072,;TAF1,intron_variant,,ENST00000449580,;TAF1,intron_variant,,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,upstream_gene_variant,,ENST00000483365,;							MODIFIER	-/5619		TAF1_HUMAN			Transcript			.	ENSP00000362895		CCDS35325.1			1	
ATP1A4	0	LGGM	GRCh37	1	160144001	160144001	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	44	3	.	.	ENST00000368081.4:c.2092C>A	p.Arg698=	p.R698=	ENST00000368081	NM_144699.3	698	Cgg/Agg	0	1	1	UPI0000124FC5	0		ENST00000368081		ENSG00000132681	14073		47			HGNC	p.R698R		ATP1A4		SNV							ENST00000368081	protein_coding			Gene3D:1.20.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF233,Superfamily_domains:SSF56784,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494		R		A		2563/3839				Q13818_HUMAN			YES	ATP1A4,synonymous_variant,p.=,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,;							LOW	2092/3090		AT1A4_HUMAN			Transcript			.	ENSP00000357060		CCDS1197.1			1	
RBM46	0	LGGM	GRCh37	4	155720390	155720390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	44	3	.	.	ENST00000281722.3:c.1076G>T	p.Ser359Ile	p.S359I	ENST00000281722	NM_144979.4	359	aGc/aTc	0	1	1	UPI000007173F	0	NA	ENST00000281722		ENSG00000151962	28401		47	1.245		HGNC	p.S359I		RBM46		SNV							ENST00000281722	protein_coding	getma.org/?cm=var&var=hg19,4,155720390,G,T&fts=all				S/I		T	low	1311/2583		getma.org/?cm=msa&ty=f&p=RBM46_HUMAN&rb=303&re=487&var=S359I	tolerated(0.08)	D6RF41_HUMAN			YES	RBM46,missense_variant,p.Ser359Ile,ENST00000510397,NM_001277173.1;RBM46,missense_variant,p.Ser359Ile,ENST00000281722,NM_144979.4;RBM46,missense_variant,p.Ser359Ile,ENST00000514866,NM_001277171.1;RBM46,downstream_gene_variant,,ENST00000512640,;							MODERATE	1076/1602	S359I	RBM46_HUMAN			Transcript		benign(0.416)	.	ENSP00000281722		CCDS3790.1			1	
CLDND1	0	LGGM	GRCh37	3	98235508	98235508	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	26	3	.	.	ENST00000437922.1:c.826G>T	p.Ala276Ser	p.A276S	ENST00000437922	NM_001040182.1	276	Gca/Tca	0	1		UPI0000001074	0	NA	ENST00000341181		ENSG00000080822	1322		29	1.04		HGNC	p.A253S		CLDND1		SNV							ENST00000341181	protein_coding	getma.org/?cm=var&var=hg19,3,98235508,C,A&fts=all		hmmpanther:PTHR14347		A/S		A	low	970/2161		getma.org/?cm=msa&ty=f&p=CLDN1_HUMAN&rb=206&re=253&var=A253S	deleterious(0)	D6RIU2_HUMAN,D6RHU6_HUMAN,D6RFX6_HUMAN,D6RDY1_HUMAN,D6RDP6_HUMAN,D6RDI6_HUMAN,D6RD48_HUMAN,D6RCR8_HUMAN,D6RCP3_HUMAN,D6RCE6_HUMAN,D6RB31_HUMAN,D6RA76_HUMAN,D6R9S8_HUMAN				CLDND1,missense_variant,p.Ala253Ser,ENST00000503004,;CLDND1,missense_variant,p.Ala253Ser,ENST00000394180,NM_019895.2;CLDND1,missense_variant,p.Ala276Ser,ENST00000437922,NM_001040182.1;CLDND1,missense_variant,p.Ala253Ser,ENST00000394181,;CLDND1,missense_variant,p.Ala253Ser,ENST00000341181,NM_001040183.1,NM_001040181.1,NM_001040199.1;CLDND1,missense_variant,p.Ala253Ser,ENST00000394185,;CLDND1,missense_variant,p.Ala253Ser,ENST00000510545,;CLDND1,missense_variant,p.Ala253Ser,ENST00000513287,;CLDND1,missense_variant,p.Ala158Ser,ENST00000511081,NM_001040200.1;CLDND1,intron_variant,,ENST00000507874,;CLDND1,intron_variant,,ENST00000506885,;CLDND1,intron_variant,,ENST00000502288,;CLDND1,intron_variant,,ENST00000513873,;CLDND1,downstream_gene_variant,,ENST00000514537,;CLDND1,downstream_gene_variant,,ENST00000508902,;CLDND1,downstream_gene_variant,,ENST00000507944,;CLDND1,downstream_gene_variant,,ENST00000511667,;CLDND1,downstream_gene_variant,,ENST00000502299,;CLDND1,downstream_gene_variant,,ENST00000513452,;CLDND1,downstream_gene_variant,,ENST00000508659,;CLDND1,downstream_gene_variant,,ENST00000515620,;CLDND1,downstream_gene_variant,,ENST00000512147,;CLDND1,downstream_gene_variant,,ENST00000510541,;CLDND1,downstream_gene_variant,,ENST00000508071,;CLDND1,downstream_gene_variant,,ENST00000503621,;CLDND1,downstream_gene_variant,,ENST00000506575,;CLDND1,downstream_gene_variant,,ENST00000508503,;CLDND1,non_coding_transcript_exon_variant,,ENST00000506927,;CLDND1,downstream_gene_variant,,ENST00000507411,;CLDND1,downstream_gene_variant,,ENST00000502980,;CLDND1,downstream_gene_variant,,ENST00000513988,;CPOX,downstream_gene_variant,,ENST00000512905,;CLDND1,downstream_gene_variant,,ENST00000503799,;							MODERATE	757/762	A253S	CLDN1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000340247		CCDS2930.1			1	
CER1	0	LGGM	GRCh37	9	14722252	14722252	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	42	3	.	.	ENST00000380911.3:c.419G>T	p.Arg140Ile	p.R140I	ENST00000380911	NM_005454.2	140	aGa/aTa	0	1	1	UPI0000051056	0	NA	ENST00000380911		ENSG00000147869	1862		45	2.08		HGNC	p.R140I		CER1		SNV							ENST00000380911	protein_coding	getma.org/?cm=var&var=hg19,9,14722252,C,A&fts=all		hmmpanther:PTHR15273,hmmpanther:PTHR15273:SF3,Pfam_domain:PF03045,PIRSF_domain:PIRSF027807		R/I		A	medium	464/1215		getma.org/?cm=msa&ty=f&p=CER1_HUMAN&rb=132&re=247&var=R140I	deleterious(0)				YES	CER1,missense_variant,p.Arg140Ile,ENST00000380911,NM_005454.2;							MODERATE	419/804	R140I	CER1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370297		CCDS6476.1			1	
LIPC	0	LGGM	GRCh37	15	58853104	58853104	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	43	3	.	.	ENST00000356113.6:c.1093G>T	p.Glu365Ter	p.E365*	ENST00000356113		365	Gag/Tag	0	1		UPI000013E54D	0	NA	ENST00000299022		ENSG00000166035	6619		46	0		HGNC	p.E365X		LIPC		SNV			1				ENST00000299022	protein_coding	getma.org/?cm=var&var=hg19,15,58853104,G,T&fts=all		PROSITE_profiles:PS50095,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF2,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF49723		E/*		T	NA	1328/1782		NA						LIPC,stop_gained,p.Glu365Ter,ENST00000414170,;LIPC,stop_gained,p.Glu365Ter,ENST00000356113,;LIPC,stop_gained,p.Glu365Ter,ENST00000299022,NM_000236.2;LIPC,stop_gained,p.Glu304Ter,ENST00000433326,;LIPC,non_coding_transcript_exon_variant,,ENST00000559845,;							HIGH	1093/1500	E365*	LIPC_HUMAN			Transcript			.	ENSP00000299022		CCDS10166.1			1	
ADAM17	0	LGGM	GRCh37	2	9645383	9645383	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	3	.	.	ENST00000310823.3:c.1456G>T	p.Gly486Ter	p.G486*	ENST00000310823	NM_003183.4	486	Gga/Tga	0	1	1	UPI00001254D4	0	NA	ENST00000310823		ENSG00000151694	195		34	0		HGNC	p.G486X		ADAM17		SNV			1				ENST00000310823	protein_coding	getma.org/?cm=var&var=hg19,2,9645383,C,A&fts=all		PROSITE_profiles:PS50214,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF121,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552		G/*		A	NA	1639/4349		NA		Q53S40_HUMAN,Q53RS1_HUMAN,Q53RF5_HUMAN,B2RNB2_HUMAN			YES	ADAM17,stop_gained,p.Gly486Ter,ENST00000310823,NM_003183.4;RP11-400L8.2,upstream_gene_variant,,ENST00000480764,;RP11-400L8.2,upstream_gene_variant,,ENST00000472619,;							HIGH	1456/2475	G486*	ADA17_HUMAN			Transcript			.	ENSP00000309968		CCDS1665.1			1	
IER5	0	LGGM	GRCh37	1	181058074	181058074	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	27	3	.	.	ENST00000367577.4:c.36C>A	p.Ser12Arg	p.S12R	ENST00000367577	NM_016545.4	12	agC/agA	0	1	1	UPI000013E1C9	0	NA	ENST00000367577		ENSG00000162783	5393		30	2.015		HGNC	p.S12R		IER5		SNV							ENST00000367577	protein_coding	getma.org/?cm=var&var=hg19,1,181058074,C,A&fts=all		Pfam_domain:PF05760,hmmpanther:PTHR15895,hmmpanther:PTHR15895:SF12		S/R		A	medium	437/2340		getma.org/?cm=msa&ty=f&p=IER5_HUMAN&rb=1&re=327&var=S12R	deleterious(0)				YES	IER5,missense_variant,p.Ser12Arg,ENST00000367577,NM_016545.4;RP11-309G3.3,upstream_gene_variant,,ENST00000606938,;							MODERATE	36/984	S12R	IER5_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000356549		CCDS1343.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81714116	81714116	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	42	3	.	.	ENST00000356860.3:c.627C>A	p.Gly209=	p.G209=	ENST00000356860	NM_000722.2	209	ggC/ggA	0	1		UPI0001B9E74B	0		ENST00000356253		ENSG00000153956	1399		45			HGNC	p.G209G	rs779645962	CACNA2D1		SNV			1	9.62E-05			ENST00000356253	protein_coding			Gene3D:3.30.450.20,Pfam_domain:PF08399,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6		G		T		883/3858	1.50E-05			Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.2;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,synonymous_variant,p.=,ENST00000423588,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000461275,;							LOW	627/3312		CA2D1_HUMAN			Transcript			.	ENSP00000348589	1.65E-05				1	
SALL1	0	LGGM	GRCh37	16	51175811	51175811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	44	3	.	.	ENST00000251020.4:c.322G>T	p.Val108Leu	p.V108L	ENST00000251020	NM_002968.2	108	Gtg/Ttg	0	1	1	UPI000013CCD8	0	NA	ENST00000251020		ENSG00000103449	10524		47	0.895		HGNC	p.V108L		SALL1		SNV			1				ENST00000251020	protein_coding	getma.org/?cm=var&var=hg19,16,51175811,C,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF51		V/L		A	low	356/5146		getma.org/?cm=msa&ty=f&p=SALL1_HUMAN&rb=1&re=139&var=V108L	tolerated(0.31)	H3BSM9_HUMAN			YES	SALL1,missense_variant,p.Val11Leu,ENST00000440970,NM_001127892.1;SALL1,missense_variant,p.Val108Leu,ENST00000251020,NM_002968.2;SALL1,missense_variant,p.Val11Leu,ENST00000570206,;SALL1,intron_variant,,ENST00000566102,;SALL1,intron_variant,,ENST00000541611,;SALL1,downstream_gene_variant,,ENST00000562674,;							MODERATE	322/3975	V108L	SALL1_HUMAN			Transcript		benign(0.031)	.	ENSP00000251020		CCDS10747.1			1	
ZNF22	0	LGGM	GRCh37	10	45499229	45499229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	43	3	.	.	ENST00000298299.3:c.413C>A	p.Pro138His	p.P138H	ENST00000298299	NM_006963.4	138	cCc/cAc	0	1	1	UPI0000001C08	0	getma.org/pdb.php?prot=ZNF22_HUMAN&from=125&to=150&var=P138H	ENST00000298299		ENSG00000165512	13012		46	2.72		HGNC	p.P138H		ZNF22		SNV							ENST00000298299	protein_coding	getma.org/?cm=var&var=hg19,10,45499229,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24409,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		P/H		A	medium	1006/2551		getma.org/?cm=msa&ty=f&p=ZNF22_HUMAN&rb=105&re=170&var=P138H	deleterious(0)				YES	ZNF22,missense_variant,p.Pro138His,ENST00000298299,NM_006963.4;C10orf25,upstream_gene_variant,,ENST00000298298,NM_001039380.2;CEP164P1,non_coding_transcript_exon_variant,,ENST00000456938,;							MODERATE	413/675	P138H	ZNF22_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000298299		CCDS7211.1			1	
C10orf71	0	LGGM	GRCh37	10	50533465	50533465	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	8	3	.	.	ENST00000374144.3:c.2875C>T	p.Pro959Ser	p.P959S	ENST00000374144		959	Cca/Tca	0	1	1	UPI0000161572	0	NA	ENST00000374144		ENSG00000177354	26973		11	0.41		HGNC	p.P959S		C10orf71		SNV							ENST00000374144	protein_coding	getma.org/?cm=var&var=hg19,10,50533465,C,T&fts=all				P/S		T	neutral	3163/5230		getma.org/?cm=msa&ty=f&p=CJ071_HUMAN&rb=900&re=1099&var=P959S	tolerated(0.84)				YES	C10orf71,missense_variant,p.Pro959Ser,ENST00000374144,;C10orf71,intron_variant,,ENST00000323868,NM_001135196.1;							MODERATE	2875/4308	P959S	CJ071_HUMAN			Transcript		benign(0.008)	.	ENSP00000363259		CCDS44387.1			1	
SLC2A12	0	LGGM	GRCh37	6	134373539	134373539	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	30	3	.	.	ENST00000275230.5:c.80G>T	p.Ser27Ile	p.S27I	ENST00000275230	NM_145176.2	27	aGc/aTc	0	1	1	UPI000004DB98	0	NA	ENST00000275230		ENSG00000146411	18067		33	0		HGNC	p.S27I		SLC2A12		SNV							ENST00000275230	protein_coding	getma.org/?cm=var&var=hg19,6,134373539,C,A&fts=all		hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF91		S/I		A	neutral	236/4468		getma.org/?cm=msa&ty=f&p=GTR12_HUMAN&rb=1&re=42&var=S27I	tolerated_low_confidence(0.19)				YES	SLC2A12,missense_variant,p.Ser27Ile,ENST00000275230,NM_145176.2;							MODERATE	80/1854	S27I	GTR12_HUMAN			Transcript		benign(0.021)	.	ENSP00000275230		CCDS5169.1			1	
TUBGCP6	0	LGGM	GRCh37	22	50656513	50656513	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	23	3	.	.	ENST00000248846.5:c.5202G>T	p.Met1734Ile	p.M1734I	ENST00000248846		1734	atG/atT	0	1	1	UPI000013CC55	0	NA	ENST00000248846		ENSG00000128159	18127		26	1.845		HGNC	p.M403I		TUBGCP6		SNV			1				ENST00000425018	protein_coding	getma.org/?cm=var&var=hg19,22,50656513,C,A&fts=all		hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF32		M/I		A	low	5307/5612		getma.org/?cm=msa&ty=f&p=GCP6_HUMAN&rb=1726&re=1819&var=M1734I	deleterious(0)				YES	TUBGCP6,missense_variant,p.Met1734Ile,ENST00000248846,;TUBGCP6,missense_variant,p.Met403Ile,ENST00000425018,;TUBGCP6,3_prime_UTR_variant,,ENST00000439308,NM_020461.3;SELO,downstream_gene_variant,,ENST00000380903,NM_031454.1;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000491449,;TUBGCP6,downstream_gene_variant,,ENST00000473946,;SELO,downstream_gene_variant,,ENST00000492092,;TUBGCP6,downstream_gene_variant,,ENST00000489511,;TUBGCP6,non_coding_transcript_exon_variant,,ENST00000498611,;							MODERATE	5202/5460	M1734I	GCP6_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000248846		CCDS14087.1			1	
LTK	0	LGGM	GRCh37	15	41797067	41797067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	21	3	.	.	ENST00000263800.6:c.2024G>T	p.Ser675Ile	p.S675I	ENST00000263800	NM_002344.5	675	aGt/aTt	0	1	1	UPI000013D463	0	getma.org/pdb.php?prot=LTK_HUMAN&from=510&to=777&var=S675I	ENST00000263800		ENSG00000062524	6721		24	1.785		HGNC	p.S373I		LTK		SNV							ENST00000561619	protein_coding	getma.org/?cm=var&var=hg19,15,41797067,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF138,hmmpanther:PTHR24416,PROSITE_patterns:PS00239,Pfam_domain:PF07714,Gene3D:1.10.510.10,SMART_domains:SM00219,Superfamily_domains:SSF56112		S/I		A	low	2121/3046		getma.org/?cm=msa&ty=f&p=LTK_HUMAN&rb=510&re=777&var=S675I	deleterious_low_confidence(0)				YES	LTK,missense_variant,p.Ser675Ile,ENST00000263800,NM_002344.5;LTK,missense_variant,p.Ser614Ile,ENST00000355166,NM_206961.3;LTK,missense_variant,p.Ser545Ile,ENST00000453182,NM_001135685.1;LTK,missense_variant,p.Ser373Ile,ENST00000561619,;ITPKA,downstream_gene_variant,,ENST00000260386,NM_002220.2;ITPKA,downstream_gene_variant,,ENST00000425927,;LTK,non_coding_transcript_exon_variant,,ENST00000563518,;ITPKA,downstream_gene_variant,,ENST00000462816,;LTK,downstream_gene_variant,,ENST00000569283,;ITPKA,downstream_gene_variant,,ENST00000491007,;							MODERATE	2024/2595	S675I	LTK_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000263800		CCDS10077.1			1	
CRYBA1	0	LGGM	GRCh37	17	27580779	27580779	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	42	3	.	.	ENST00000225387.3:c.479C>A	p.Ser160Tyr	p.S160Y	ENST00000225387	NM_005208.4	160	tCc/tAc	0	1	1	UPI00001283CF	0	getma.org/pdb.php?prot=CRBA1_HUMAN&from=125&to=213&var=S160Y	ENST00000225387		ENSG00000108255	2394		45	4.345		HGNC	p.S160Y		CRYBA1		SNV			1				ENST00000225387	protein_coding	getma.org/?cm=var&var=hg19,17,27580779,C,A&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818:SF8,hmmpanther:PTHR11818,Pfam_domain:PF00030,Gene3D:2.60.20.10,SMART_domains:SM00247,Superfamily_domains:SSF49695		S/Y		A	high	480/783		getma.org/?cm=msa&ty=f&p=CRBA1_HUMAN&rb=125&re=213&var=S160Y	deleterious(0)				YES	CRYBA1,missense_variant,p.Ser160Tyr,ENST00000225387,NM_005208.4;NUFIP2,downstream_gene_variant,,ENST00000225388,NM_020772.2;CRYBA1,3_prime_UTR_variant,,ENST00000484605,;							MODERATE	479/648	S160Y	CRBA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000225387		CCDS11249.1			1	
ITGAD	0	LGGM	GRCh37	16	31414913	31414913	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	34	3	.	.	ENST00000389202.2:c.651C>A	p.Pro217=	p.P217=	ENST00000389202	NM_005353.2	217	ccC/ccA	0	1	1	UPI000004B27A	0		ENST00000389202		ENSG00000156886	6146		37			HGNC	p.P217P	COSM557670	ITGAD		SNV						1	ENST00000389202	protein_coding			Superfamily_domains:SSF53300,SMART_domains:SM00327,Pfam_domain:PF00092,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF19,PROSITE_profiles:PS50234		P		A		700/3912				Q59H14_HUMAN			YES	ITGAD,synonymous_variant,p.=,ENST00000389202,NM_005353.2;RP11-120K18.2,non_coding_transcript_exon_variant,,ENST00000567545,;ITGAD,non_coding_transcript_exon_variant,,ENST00000444228,;					1		LOW	651/3486		ITAD_HUMAN			Transcript			.	ENSP00000373854		CCDS32438.1			1	
SPACDR	0	LGGM	GRCh37	7	100054476	100054476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	40	3	.	.	ENST00000332375.3:c.520C>A	p.Arg174Ser	p.R174S	ENST00000332375	NM_001004323.1	174	Cgc/Agc	0	1	1	UPI00000741A1	0	NA	ENST00000332375		ENSG00000185955	22135		43	0.625		HGNC	p.R174S		C7orf61		SNV							ENST00000332375	protein_coding	getma.org/?cm=var&var=hg19,7,100054476,G,T&fts=all		Low_complexity_(Seg):seg		R/S		T	neutral	766/1004		getma.org/?cm=msa&ty=f&p=CG061_HUMAN&rb=1&re=205&var=R174S	deleterious(0.03)				YES	C7orf61,missense_variant,p.Arg174Ser,ENST00000332375,NM_001004323.1;C7orf61,downstream_gene_variant,,ENST00000418952,;							MODERATE	520/621	R174S	CG061_HUMAN			Transcript		possibly_damaging(0.508)	.	ENSP00000327732		CCDS47661.1			1	
GHITM	0	LGGM	GRCh37	10	85909962	85909962	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	26	3	.	.	ENST00000372134.3:c.744G>T	p.Leu248=	p.L248=	ENST00000372134	NM_014394.2	248	ctG/ctT	0	1	1	UPI0000049DE6	0		ENST00000372134		ENSG00000165678	17281		29			HGNC	p.L228L		GHITM		SNV							ENST00000339736	protein_coding			Pfam_domain:PF01027,hmmpanther:PTHR23291:SF32,hmmpanther:PTHR23291,Transmembrane_helices:TMhelix		L		T		937/2128				Q9P099_HUMAN,Q658I8_HUMAN,Q5VT94_HUMAN,B4DPG9_HUMAN			YES	GHITM,synonymous_variant,p.=,ENST00000372134,NM_014394.2;							LOW	744/1038		GHITM_HUMAN			Transcript			.	ENSP00000361207		CCDS41542.1			1	
ATP11B	0	LGGM	GRCh37	3	182591631	182591631	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	42	3	.	.	ENST00000323116.5:c.2080G>C	p.Ala694Pro	p.A694P	ENST00000323116	NM_014616.2	694	Gca/Cca	0	1	1	UPI000004124E	0	getma.org/pdb.php?prot=AT11B_HUMAN&from=401&to=833&var=A694P	ENST00000323116		ENSG00000058063	13553		45	3.425		HGNC	p.A694P		ATP11B		SNV							ENST00000323116	protein_coding	getma.org/?cm=var&var=hg19,3,182591631,G,C&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,Gene3D:3.40.50.1000,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01652,Superfamily_domains:SSF56784		A/P		C	medium	2340/7325		getma.org/?cm=msa&ty=f&p=AT11B_HUMAN&rb=401&re=833&var=A694P	deleterious(0.01)	B4E3T1_HUMAN			YES	ATP11B,missense_variant,p.Ala694Pro,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Ala495Pro,ENST00000498086,;ATP11B,non_coding_transcript_exon_variant,,ENST00000490303,;ATP11B,upstream_gene_variant,,ENST00000466758,;							MODERATE	2080/3534	A694P	AT11B_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000321195		CCDS33896.1			1	
IQCE	0	LGGM	GRCh37	7	2625912	2625912	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	26	3	.	.	ENST00000402050.2:c.895C>A	p.Arg299=	p.R299=	ENST00000402050	NM_152558.3	299	Cgg/Agg	0	1	1	UPI000020E9EF	0		ENST00000402050		ENSG00000106012	29171		29			HGNC	p.R234R	rs547114342	IQCE		SNV							ENST00000325979	protein_coding		A:0	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22590		R		A		1079/6844				C9JX25_HUMAN,C9JP75_HUMAN	A:0	A:0	YES	IQCE,synonymous_variant,p.=,ENST00000402050,NM_152558.3,NM_001100390.1,NM_001287501.1;IQCE,synonymous_variant,p.=,ENST00000404984,;IQCE,synonymous_variant,p.=,ENST00000325979,;IQCE,synonymous_variant,p.=,ENST00000438376,NM_001287500.1;IQCE,synonymous_variant,p.=,ENST00000427817,;IQCE,downstream_gene_variant,,ENST00000497572,;IQCE,3_prime_UTR_variant,,ENST00000325997,;IQCE,non_coding_transcript_exon_variant,,ENST00000476665,;IQCE,non_coding_transcript_exon_variant,,ENST00000470731,;IQCE,upstream_gene_variant,,ENST00000490913,;		A:0.0002					LOW	895/2088		IQCE_HUMAN		A:0.001	Transcript			.	ENSP00000385597		CCDS43542.1		A:0	1	
GRIK3	0	LGGM	GRCh37	1	37270609	37270609	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	44	3	.	.	ENST00000373091.3:c.2544C>A	p.Arg848=	p.R848=	ENST00000373091	NM_000831.3	848	cgC/cgA	0	1	1	UPI000013E311	0		ENST00000373091		ENSG00000163873	4581		47			HGNC	p.R848R		GRIK3		SNV							ENST00000373093	protein_coding			hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966		R		T		2561/9101				Q96SC0_HUMAN			YES	GRIK3,synonymous_variant,p.=,ENST00000373091,NM_000831.3;GRIK3,synonymous_variant,p.=,ENST00000373093,;							LOW	2544/2760		GRIK3_HUMAN			Transcript			.	ENSP00000362183		CCDS416.1			1	
SFR1	0	LGGM	GRCh37	10	105882643	105882643	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	46	3	.	.	ENST00000369727.3:c.14-80C>A		*5*	ENST00000369727	NM_001002759.1			0	1	1	UPI00001F9699	0		ENST00000369727		ENSG00000156384	29574		49			HGNC	p.T40T		SFR1		SNV							ENST00000336358	protein_coding							A		-/1438							YES	SFR1,synonymous_variant,p.=,ENST00000336358,;SFR1,intron_variant,,ENST00000369729,NM_145247.4;SFR1,intron_variant,,ENST00000369727,NM_001002759.1;SFR1,intron_variant,,ENST00000463224,;							MODIFIER	-/738		SFR1_HUMAN			Transcript			.	ENSP00000358742		CCDS31279.1			1	
TVP23C	0	LGGM	GRCh37	17	15406311	15406311	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	14	3	.	.	ENST00000225576.3:c.698G>A	p.Cys233Tyr	p.C233Y	ENST00000225576	NM_145301.2	233	tGc/tAc	0	1	1	UPI000013C872	0	NA	ENST00000225576		ENSG00000175106	30453		17	1.715		HGNC	p.C233Y		TVP23C		SNV							ENST00000225576	protein_coding	getma.org/?cm=var&var=hg19,17,15406311,C,T&fts=all				C/Y		T	low	794/1527		getma.org/?cm=msa&ty=f&p=F18B2_HUMAN&rb=164&re=276&var=C233Y	deleterious_low_confidence(0)	E5RGC5_HUMAN			YES	TVP23C,missense_variant,p.Cys233Tyr,ENST00000225576,NM_145301.2;TVP23C-CDRT4,intron_variant,,ENST00000522212,NM_001204478.1;TVP23C,intron_variant,,ENST00000519970,;CDRT4,intron_variant,,ENST00000524205,;TVP23C-CDRT4,intron_variant,,ENST00000557349,;TVP23C-CDRT4,intron_variant,,ENST00000481756,;TVP23C-CDRT4,intron_variant,,ENST00000518506,;TVP23C,downstream_gene_variant,,ENST00000581273,;AC005517.3,upstream_gene_variant,,ENST00000452091,;							MODERATE	698/831	C233Y	TV23C_HUMAN			Transcript		benign(0.081)	.	ENSP00000225576		CCDS11170.1			1	
KCNJ12	0	LGGM	GRCh37	17	21319942	21319942	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	10	3	.	.	ENST00000583088.1:c.1288G>T	p.Glu430Ter	p.E430*	ENST00000583088	NM_021012.4	430	Gag/Tag	0	1		UPI00000725C7	0	NA	ENST00000331718		ENSG00000184185	6258		13	0		HGNC	p.E430X		KCNJ12		SNV							ENST00000331718	protein_coding	getma.org/?cm=var&var=hg19,17,21319942,G,T&fts=all		hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF14		E/*		T	NA	1658/2198		NA						KCNJ12,stop_gained,p.Glu430Ter,ENST00000583088,NM_021012.4;KCNJ12,stop_gained,p.Glu430Ter,ENST00000331718,NM_001194958.2;							HIGH	1288/1302	E430*	IRK12_HUMAN			Transcript			.	ENSP00000328150		CCDS11219.1			1	
DGCR8	0	LGGM	GRCh37	22	20077222	20077222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	29	3	.	.	ENST00000351989.3:c.911C>A	p.Pro304His	p.P304H	ENST00000351989	NM_022720.6	304	cCc/cAc	0	1	1	UPI0000129225	0	getma.org/pdb.php?prot=DGCR8_HUMAN&from=301&to=334&var=P304H	ENST00000351989		ENSG00000128191	2847		32	1.995		HGNC	p.P304H		DGCR8		SNV							ENST00000351989	protein_coding	getma.org/?cm=var&var=hg19,22,20077222,C,A&fts=all		Superfamily_domains:SSF51045,SMART_domains:SM00456,Gene3D:2.20.70.10,hmmpanther:PTHR13482,hmmpanther:PTHR13482:SF2,PROSITE_profiles:PS50020		P/H		A	medium	1340/4514		getma.org/?cm=msa&ty=f&p=DGCR8_HUMAN&rb=301&re=334&var=P304H	deleterious(0)	C9JSD5_HUMAN			YES	DGCR8,missense_variant,p.Pro304His,ENST00000351989,NM_022720.6;DGCR8,missense_variant,p.Pro304His,ENST00000383024,NM_001190326.1;DGCR8,missense_variant,p.Pro304His,ENST00000407755,;DGCR8,downstream_gene_variant,,ENST00000457069,;MIR3618,downstream_gene_variant,,ENST00000580330,;MIR1306,downstream_gene_variant,,ENST00000408439,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,non_coding_transcript_exon_variant,,ENST00000498171,;							MODERATE	911/2322	P304H	DGCR8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263209		CCDS13773.1			1	
PELI2	0	LGGM	GRCh37	14	56763331	56763331	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	32	3	.	.	ENST00000267460.4:c.710C>A	p.Thr237Asn	p.T237N	ENST00000267460	NM_021255.2	237	aCc/aAc	0	1	1	UPI0000062262	0	getma.org/pdb.php?prot=PELI2_HUMAN&from=5&to=420&var=T237N	ENST00000267460		ENSG00000139946	8828		35	1.2		HGNC	p.T237N		PELI2		SNV							ENST00000267460	protein_coding	getma.org/?cm=var&var=hg19,14,56763331,C,A&fts=all		hmmpanther:PTHR12098:SF5,hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886		T/N		A	low	996/5909		getma.org/?cm=msa&ty=f&p=PELI2_HUMAN&rb=5&re=420&var=T237N	tolerated(0.16)	Q659D8_HUMAN,H0YNF4_HUMAN,H0YK56_HUMAN			YES	PELI2,missense_variant,p.Thr237Asn,ENST00000267460,NM_021255.2;							MODERATE	710/1263	T237N	PELI2_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000267460		CCDS9726.1			1	
MYO1A	0	LGGM	GRCh37	12	57424873	57424873	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	39	3	.	.	ENST00000442789.2:c.2435G>T	p.Cys812Phe	p.C812F	ENST00000442789	NM_001256041.1	812	tGc/tTc	0	1		UPI000012FAC2	0	NA	ENST00000300119		ENSG00000166866	7595		42	0.185		HGNC	p.C650F		MYO1A		SNV			1				ENST00000554234	protein_coding	getma.org/?cm=var&var=hg19,12,57424873,C,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF291		C/F		A	neutral	2686/3621		getma.org/?cm=msa&ty=f&p=MYO1A_HUMAN&rb=765&re=845&var=C812F	tolerated(1)	Q13871_HUMAN,G3V587_HUMAN,F5GWY8_HUMAN,C9JU63_HUMAN				MYO1A,missense_variant,p.Cys812Phe,ENST00000442789,NM_001256041.1;MYO1A,missense_variant,p.Cys812Phe,ENST00000300119,NM_005379.3;MYO1A,missense_variant,p.Cys650Phe,ENST00000544473,;TAC3,upstream_gene_variant,,ENST00000415231,;MYO1A,upstream_gene_variant,,ENST00000477864,;MYO1A,missense_variant,p.Cys650Phe,ENST00000554234,;MYO1A,upstream_gene_variant,,ENST00000487083,;							MODERATE	2435/3132	C812F	MYO1A_HUMAN			Transcript		benign(0)	.	ENSP00000300119		CCDS8929.1			1	
RNF13	0	LGGM	GRCh37	3	149678527	149678527	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	39	3	.	.	ENST00000344229.3:c.782C>A	p.Ala261Asp	p.A261D	ENST00000344229	NM_007282.4	261	gCt/gAt	0	1	1	UPI0000134318	0	getma.org/pdb.php?prot=RNF13_HUMAN&from=238&to=284&var=A261D	ENST00000344229		ENSG00000082996	10057		42	1.465		HGNC	p.A142D		RNF13		SNV							ENST00000467977	protein_coding	getma.org/?cm=var&var=hg19,3,149678527,C,A&fts=all		Superfamily_domains:SSF57850,SMART_domains:SM00184,Pfam_domain:PF13639,Gene3D:3.30.40.10,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF28,PROSITE_profiles:PS50089		A/D		A	low	1484/2866		getma.org/?cm=msa&ty=f&p=RNF13_HUMAN&rb=238&re=284&var=A261D	deleterious(0)	F8W989_HUMAN,C9JYY4_HUMAN,C9JYN7_HUMAN,C9JU37_HUMAN,C9JRV0_HUMAN,C9J8T4_HUMAN			YES	RNF13,missense_variant,p.Ala261Asp,ENST00000344229,NM_007282.4;RNF13,missense_variant,p.Ala261Asp,ENST00000392894,NM_183381.2;RNF13,missense_variant,p.Ala142Asp,ENST00000361785,;RNF13,missense_variant,p.Ala142Asp,ENST00000491086,;RNF13,missense_variant,p.Ala63Asp,ENST00000468289,;RNF13,missense_variant,p.Ala142Asp,ENST00000482083,;RNF13,missense_variant,p.Ala142Asp,ENST00000467977,;PFN2,downstream_gene_variant,,ENST00000239940,;PFN2,downstream_gene_variant,,ENST00000452853,NM_053024.3,NM_002628.4;PFN2,downstream_gene_variant,,ENST00000481767,;PFN2,downstream_gene_variant,,ENST00000423691,;ANKUB1,intron_variant,,ENST00000481585,;RNF13,splice_region_variant,,ENST00000474348,;RNF13,splice_region_variant,,ENST00000493238,;RNF13,splice_region_variant,,ENST00000467996,;PFN2,downstream_gene_variant,,ENST00000460404,;PFN2,downstream_gene_variant,,ENST00000468323,;							MODERATE	782/1146	A261D	RNF13_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000341361		CCDS3146.1			1	
NUP153	0	LGGM	GRCh37	6	17633077	17633078	+	splice_region_variant,intron_variant	Splice_Region	INS	-	-	G	novel	by Submitter	H104044	H104044N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	15	10	.	.	ENST00000262077.2:c.2465-3_2465-2insC		p.X822_splice	ENST00000262077	NM_001278210.1			0	1	1	UPI000013D251	0		ENST00000262077		ENSG00000124789	8062		25			HGNC	-	rs36027788	NUP153		insertion							ENST00000262077	protein_coding							G		-/5487							YES	NUP153,splice_region_variant,,ENST00000262077,NM_001278210.1,NM_005124.3;NUP153,splice_region_variant,,ENST00000537253,NM_001278209.1;							LOW	-/4428		NU153_HUMAN			Transcript			.	ENSP00000262077		CCDS4541.1			1	
COBLL1	0	LGGM	GRCh37	2	165550847	165550847	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	53	4	.	.	ENST00000342193.4:c.3169A>C	p.Thr1057Pro	p.T1057P	ENST00000342193	NM_014900.4	1057	Aca/Cca	0	1		UPI0000E82591	0	NA	ENST00000392717		ENSG00000082438	23571		57	1.04		HGNC	p.T1095P		COBLL1		SNV							ENST00000392717	protein_coding	getma.org/?cm=var&var=hg19,2,165550847,T,G&fts=all		hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF2		T/P		G	low	3288/4749		getma.org/?cm=msa&ty=f&p=COBL1_HUMAN&rb=1007&re=1204&var=T1095P	tolerated(0.13)	C9JWZ0_HUMAN,C9JAU3_HUMAN,B3KMG7_HUMAN				COBLL1,missense_variant,p.Thr1019Pro,ENST00000375458,NM_001278461.1;COBLL1,missense_variant,p.Thr1057Pro,ENST00000342193,NM_014900.4;COBLL1,missense_variant,p.Thr1095Pro,ENST00000392717,;COBLL1,missense_variant,p.Thr1057Pro,ENST00000409184,NM_001278460.1;COBLL1,missense_variant,p.Thr1124Pro,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,;							MODERATE	3283/3615	T1095P	COBL1_HUMAN			Transcript		benign(0.008)	.	ENSP00000376478					1	
CDH5	0	LGGM	GRCh37	16	66436874	66436874	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	8	4	.	.	ENST00000341529.3:c.2157C>T	p.Asp719=	p.D719=	ENST00000341529	NM_001795.3	719	gaC/gaT	0	1	1	UPI000016B272	0		ENST00000341529		ENSG00000179776	1764		12			HGNC	p.D158D		CDH5		SNV							ENST00000539168	protein_coding			Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF89		D		T		2305/4117				Q59EA3_HUMAN,I3L1J2_HUMAN,H3BR64_HUMAN,H3BPG1_HUMAN,B4DTR2_HUMAN			YES	CDH5,synonymous_variant,p.=,ENST00000341529,NM_001795.3;CDH5,synonymous_variant,p.=,ENST00000539168,;CDH5,3_prime_UTR_variant,,ENST00000565334,;							LOW	2157/2355		CADH5_HUMAN			Transcript			.	ENSP00000344115		CCDS10804.1			1	
VPS4A	0	LGGM	GRCh37	16	69355128	69355128	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	9	4	.	.	ENST00000254950.11:c.1026C>T	p.Leu342=	p.L342=	ENST00000254950	NM_013245.2	342	ctC/ctT	0	1	1	UPI000000DC7F	0		ENST00000254950		ENSG00000132612	13488		13			HGNC	p.L342L		VPS4A		SNV							ENST00000254950	protein_coding			hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF82,Gene3D:1.10.8.60,Superfamily_domains:SSF52540		L		T		1182/2203				Q9UF30_HUMAN			YES	VPS4A,synonymous_variant,p.=,ENST00000254950,NM_013245.2;RP11-343C2.11,downstream_gene_variant,,ENST00000570054,;COG8,downstream_gene_variant,,ENST00000562595,;VPS4A,non_coding_transcript_exon_variant,,ENST00000564399,;COG8,intron_variant,,ENST00000564419,;VPS4A,non_coding_transcript_exon_variant,,ENST00000566354,;VPS4A,downstream_gene_variant,,ENST00000562754,;							LOW	1026/1314		VPS4A_HUMAN			Transcript			.	ENSP00000254950		CCDS45517.1			1	
TM9SF3	0	LGGM	GRCh37	10	98303932	98303932	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	33	4	.	.	ENST00000371142.4:c.1086G>T	p.Gly362=	p.G362=	ENST00000371142	NM_020123.3	362	ggG/ggT	0	1	1	UPI000013684E	0		ENST00000371142		ENSG00000077147	21529		37			HGNC	p.G362G		TM9SF3		SNV							ENST00000371142	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10766:SF41,hmmpanther:PTHR10766,Pfam_domain:PF02990		G		A		1303/6141				Q96K55_HUMAN,Q96JZ5_HUMAN,Q8WUB5_HUMAN,Q5TB53_HUMAN			YES	TM9SF3,synonymous_variant,p.=,ENST00000371142,NM_020123.3;TM9SF3,non_coding_transcript_exon_variant,,ENST00000490192,;							LOW	1086/1770		TM9S3_HUMAN			Transcript			.	ENSP00000360184		CCDS7450.1			1	
ZNF560	0	LGGM	GRCh37	19	9581972	9581972	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	23	4	.	.	ENST00000301480.4:c.321G>T	p.Met107Ile	p.M107I	ENST00000301480	NM_152476.2	107	atG/atT	0	1	1	UPI000013E720	0	NA	ENST00000301480		ENSG00000198028	26484		27	0.345		HGNC	p.M107I		ZNF560		SNV							ENST00000301480	protein_coding	getma.org/?cm=var&var=hg19,19,9581972,C,A&fts=all		Superfamily_domains:0044637		M/I		A	neutral	535/2654		getma.org/?cm=msa&ty=f&p=ZN560_HUMAN&rb=54&re=109&var=M107I	tolerated(0.35)				YES	ZNF560,missense_variant,p.Met107Ile,ENST00000301480,NM_152476.2;ZNF560,upstream_gene_variant,,ENST00000585974,;							MODERATE	321/2373	M107I	ZN560_HUMAN			Transcript		benign(0)	.	ENSP00000301480		CCDS12214.1			1	
NRP1	0	LGGM	GRCh37	10	33475235	33475235	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	4	.	.	ENST00000265371.4:c.2244C>T	p.Tyr748=	p.Y748=	ENST00000265371		748	taC/taT	0	1	1	UPI000013D60A	0		ENST00000265371		ENSG00000099250	8004		35			HGNC	p.Y560Y	rs770032075	NRP1	6.06E-05	SNV							ENST00000374875	protein_coding			Pfam_domain:PF00629,PIRSF_domain:PIRSF036960,PROSITE_profiles:PS50060,SMART_domains:SM00137,Superfamily_domains:SSF49899		Y		A		2770/5882				Q9H2E0_HUMAN,Q9H2D9_HUMAN,Q9H2D8_HUMAN,Q9H2D7_HUMAN,Q7Z5M2_HUMAN			YES	NRP1,synonymous_variant,p.=,ENST00000265371,;NRP1,synonymous_variant,p.=,ENST00000374867,NM_001244973.1,NM_003873.5,NM_001244972.1;NRP1,synonymous_variant,p.=,ENST00000374875,;NRP1,synonymous_variant,p.=,ENST00000395995,;NRP1,upstream_gene_variant,,ENST00000413802,;							LOW	2244/2772		NRP1_HUMAN			Transcript			.	ENSP00000265371	8.24E-06	CCDS7177.1			1	
PAMR1	0	LGGM	GRCh37	11	35454018	35454018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	28	4	.	.	ENST00000278360.3:c.2100G>T	p.Trp700Cys	p.W700C	ENST00000278360	NM_015430.2	700	tgG/tgT	0	1	1	UPI000013DB70	0	getma.org/pdb.php?prot=PAMR1_HUMAN&from=452&to=715&var=W683C	ENST00000278360		ENSG00000149090	24554		32	3.725		HGNC	p.W700C		PAMR1		SNV							ENST00000278360	protein_coding	getma.org/?cm=var&var=hg19,11,35454018,C,A&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF7,SMART_domains:SM00020,Superfamily_domains:SSF50494		W/C		A	high	2138/2786		getma.org/?cm=msa&ty=f&p=PAMR1_HUMAN&rb=452&re=715&var=W683C	deleterious(0)	E9PQ70_HUMAN			YES	PAMR1,missense_variant,p.Trp683Cys,ENST00000378880,NM_001001991.1;PAMR1,missense_variant,p.Trp643Cys,ENST00000532848,NM_001282675.1;PAMR1,missense_variant,p.Trp700Cys,ENST00000278360,NM_015430.2;PAMR1,missense_variant,p.Trp660Cys,ENST00000527605,;PAMR1,missense_variant,p.Trp572Cys,ENST00000378878,NM_001282676.1;PAMR1,downstream_gene_variant,,ENST00000531219,;							MODERATE	2100/2214	W683C	PAMR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000278360		CCDS7898.1			1	
ARID5B	0	LGGM	GRCh37	10	63851154	63851154	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	33	4	.	.	ENST00000279873.7:c.1932G>A	p.Gln644=	p.Q644=	ENST00000279873	NM_032199.2	644	caG/caA	0	1	1	UPI00001606F0	0		ENST00000279873		ENSG00000150347	17362		37			HGNC	p.Q401Q		ARID5B		SNV			1				ENST00000309334	protein_coding			hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF22		Q		A		2342/7891							YES	ARID5B,synonymous_variant,p.=,ENST00000279873,NM_032199.2;ARID5B,synonymous_variant,p.=,ENST00000309334,NM_001244638.1;							LOW	1932/3567		ARI5B_HUMAN			Transcript			.	ENSP00000279873		CCDS31208.1			1	
HIVEP3	0	LGGM	GRCh37	1	42049308	42049308	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	39	4	.	.	ENST00000372583.1:c.1161G>T	p.Gly387=	p.G387=	ENST00000372583	NM_024503.4	387	ggG/ggT	0	1		UPI000013CC24	0		ENST00000247584		ENSG00000127124	13561		43			HGNC	p.G387G		HIVEP3		SNV							ENST00000372584	protein_coding			hmmpanther:PTHR23233:SF50,hmmpanther:PTHR23233		G		A		1967/8465								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,;							LOW	1161/7221		ZEP3_HUMAN			Transcript			.	ENSP00000247584		CCDS463.1			1	
CYLC1	0	LGGM	GRCh37	X	83129605	83129605	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	36	4	.	.	ENST00000329312.4:c.1889C>A	p.Pro630His	p.P630H	ENST00000329312	NM_021118.2	630	cCt/cAt	0	1	1	UPI0000251E1D	0	NA	ENST00000329312		ENSG00000183035	2582		40	1.04		HGNC	p.P630H		CYLC1		SNV							ENST00000329312	protein_coding	getma.org/?cm=var&var=hg19,X,83129605,C,A&fts=all		hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1,Low_complexity_(Seg):seg		P/H		A	low	1926/2106		getma.org/?cm=msa&ty=f&p=CYLC1_HUMAN&rb=601&re=651&var=P630H	deleterious(0)				YES	CYLC1,missense_variant,p.Pro630His,ENST00000329312,NM_021118.2;							MODERATE	1889/1956	P630H	CYLC1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000331556		CCDS35341.1			1	
ZNF44	0	LGGM	GRCh37	19	12383959	12383959	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	91	4	.	.	ENST00000356109.5:c.1255G>T	p.Gly419Trp	p.G419W	ENST00000356109	NM_001164276.1	419	Ggg/Tgg	0	1	1	UPI00017A7462	0	getma.org/pdb.php?prot=ZNF44_HUMAN&from=401&to=424&var=G419W	ENST00000356109		ENSG00000197857	13110		95	4.115		HGNC	p.G371W		ZNF44		SNV							ENST00000355684	protein_coding	getma.org/?cm=var&var=hg19,19,12383959,C,A&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF17,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/W		A	high	1374/2706		getma.org/?cm=msa&ty=f&p=ZNF44_HUMAN&rb=381&re=444&var=G419W	deleterious(0.01)	Q6LDH8_HUMAN,O14858_HUMAN			YES	ZNF44,missense_variant,p.Gly419Trp,ENST00000356109,NM_001164276.1;ZNF44,missense_variant,p.Gly371Trp,ENST00000355684,NM_016264.3;ZNF44,missense_variant,p.Gly419Trp,ENST00000393337,;ZNF44,missense_variant,p.Gly371Trp,ENST00000397742,;ZNF44,intron_variant,,ENST00000600003,;ZNF44,downstream_gene_variant,,ENST00000354656,;							MODERATE	1255/1992	G419W	ZNF44_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348419		CCDS54223.1			1	
NOVA1	0	LGGM	GRCh37	14	26949341	26949341	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	41	4	.	.	ENST00000539517.2:c.289G>C	p.Glu97Gln	p.E97Q	ENST00000539517	NM_002515.2	97	Gag/Cag	0	1	1	UPI000013D74E	0	getma.org/pdb.php?prot=NOVA1_HUMAN&from=52&to=117&var=E100Q	ENST00000539517		ENSG00000139910	7886		45	2.85		HGNC	p.E60Q		NOVA1		SNV							ENST00000549571	protein_coding	getma.org/?cm=var&var=hg19,14,26949341,C,G&fts=all		Gene3D:3.30.1370.10,Pfam_domain:PF00013,PROSITE_profiles:PS50084,hmmpanther:PTHR10288,hmmpanther:PTHR10288:SF143,SMART_domains:SM00322,Superfamily_domains:SSF54791		E/Q		G	medium	607/3912		getma.org/?cm=msa&ty=f&p=NOVA1_HUMAN&rb=52&re=117&var=E100Q	deleterious(0)	F8VW64_HUMAN,B7Z770_HUMAN			YES	NOVA1,missense_variant,p.Glu97Gln,ENST00000539517,NM_002515.2;NOVA1,missense_variant,p.Glu97Gln,ENST00000465357,NM_006489.2;NOVA1,missense_variant,p.Glu97Gln,ENST00000574031,;NOVA1,missense_variant,p.Glu60Gln,ENST00000549571,;NOVA1,missense_variant,p.Glu56Gln,ENST00000449198,;NOVA1,missense_variant,p.Glu97Gln,ENST00000547619,;NOVA1,missense_variant,p.Glu97Gln,ENST00000344429,NM_006491.2;NOVA1,5_prime_UTR_variant,,ENST00000267422,;NOVA1,5_prime_UTR_variant,,ENST00000549146,;NOVA1,5_prime_UTR_variant,,ENST00000347476,;NOVA1,3_prime_UTR_variant,,ENST00000483536,;NOVA1,3_prime_UTR_variant,,ENST00000546546,;							MODERATE	289/1524	E100Q	NOVA1_HUMAN			Transcript		unknown(0)	.	ENSP00000438875		CCDS32061.1			1	
B4GALNT4	0	LGGM	GRCh37	11	376446	376446	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	4	4	.	.	ENST00000329962.6:c.1323G>A	p.Gly441=	p.G441=	ENST00000329962	NM_178537.4	441	ggG/ggA	0	1	1	UPI00002326B6	0		ENST00000329962		ENSG00000182272	26315	0.000362	8			HGNC	p.G441G	rs777507728	B4GALNT4		SNV							ENST00000329962	protein_coding			hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF9,Low_complexity_(Seg):seg		G		A		1323/3444							YES	B4GALNT4,synonymous_variant,p.=,ENST00000329962,NM_178537.4;B4GALNT4,upstream_gene_variant,,ENST00000534778,;B4GALNT4,upstream_gene_variant,,ENST00000526584,;B4GALNT4,downstream_gene_variant,,ENST00000524443,;B4GALNT4,downstream_gene_variant,,ENST00000530717,;							LOW	1323/3120		B4GN4_HUMAN			Transcript			.	ENSP00000328277	3.36E-05	CCDS7694.1			1	
MUC5B	0	LGGM	GRCh37	11	1267996	1267996	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	43	4	.	.	ENST00000529681.1:c.9886C>T	p.Pro3296Ser	p.P3296S	ENST00000529681	NM_002458.2	3296	Ccc/Tcc	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		47	1.83		HGNC	p.P3296S		MUC5B		SNV			1				ENST00000529681	protein_coding	getma.org/?cm=var&var=hg19,11,1267996,C,T&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		P/S		T	low	9944/17911		getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=2967&re=3569&var=P3296S		Q93043_HUMAN			YES	MUC5B,missense_variant,p.Pro3299Ser,ENST00000447027,;MUC5B,missense_variant,p.Pro3296Ser,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;							MODERATE	9886/17289	P3296S	MUC5B_HUMAN			Transcript		unknown(0)	.	ENSP00000436812		CCDS44515.2			1	
LAMA2	0	LGGM	GRCh37	6	129777563	129777563	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	89	4	.	.	ENST00000421865.2:c.6791C>G	p.Ser2264Cys	p.S2264C	ENST00000421865	NM_001079823.1	2264	tCt/tGt	0	1	1	UPI00003673E0	0	getma.org/pdb.php?prot=LAMA2_HUMAN&from=2174&to=2314&var=S2264C	ENST00000421865		ENSG00000196569	6482		93	1.715		HGNC	p.S2264C		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129777563,C,G&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00054,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00282,Superfamily_domains:SSF49899		S/C		G	low	6840/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=2174&re=2314&var=S2264C	deleterious(0)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Ser2264Cys,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	6791/9369	S2264C	LAMA2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000400365		CCDS5138.1			1	
BCL9	0	LGGM	GRCh37	1	147096239	147096239	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	54	4	.	.	ENST00000234739.3:c.3760C>A	p.Arg1254=	p.R1254=	ENST00000234739	NM_004326.3	1254	Cga/Aga	0	1	1	UPI000013C9B9	0		ENST00000234739		ENSG00000116128	1008		58			HGNC	p.R1254R		BCL9		SNV							ENST00000234739	protein_coding			hmmpanther:PTHR15185,hmmpanther:PTHR15185:SF5		R		A		4500/6278							YES	BCL9,synonymous_variant,p.=,ENST00000234739,NM_004326.3;							LOW	3760/4281		BCL9_HUMAN			Transcript			.	ENSP00000234739		CCDS30833.1			1	
GDF2	0	LGGM	GRCh37	10	48413877	48413877	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	40	4	.	.	ENST00000249598.1:c.991T>C	p.Ser331Pro	p.S331P	ENST00000249598	NM_016204.1	331	Tcc/Ccc	0	1	1	UPI000012B394	0	getma.org/pdb.php?prot=GDF2_HUMAN&from=324&to=429&var=S331P	ENST00000249598		ENSG00000128802	4217		44	-0.205		HGNC	p.S331P		GDF2		SNV							ENST00000249598	protein_coding	getma.org/?cm=var&var=hg19,10,48413877,A,G&fts=all		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF127,Gene3D:2.10.90.10,Pfam_domain:PF00019,SMART_domains:SM00204,Superfamily_domains:SSF57501,Prints_domain:PR00669		S/P		G	neutral	1151/1936		getma.org/?cm=msa&ty=f&p=GDF2_HUMAN&rb=324&re=429&var=S331P	tolerated(0.3)				YES	GDF2,missense_variant,p.Ser331Pro,ENST00000249598,NM_016204.1;							MODERATE	991/1290	S331P	GDF2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000249598		CCDS7219.1			1	
POLR1A	0	LGGM	GRCh37	2	86265852	86265852	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	20	5	.	.	ENST00000263857.6:c.4005C>T	p.Pro1335=	p.P1335=	ENST00000263857		1335	ccC/ccT	0	1	1	UPI0000D7DB86	0		ENST00000263857		ENSG00000068654	17264		25			HGNC	p.P1335P		POLR1A		SNV			1				ENST00000263857	protein_coding			hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484		P		A		4384/12749				Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN			YES	POLR1A,synonymous_variant,p.=,ENST00000263857,;POLR1A,synonymous_variant,p.=,ENST00000409681,NM_015425.3;POLR1A,non_coding_transcript_exon_variant,,ENST00000492034,;POLR1A,upstream_gene_variant,,ENST00000496892,;POLR1A,downstream_gene_variant,,ENST00000462078,;							LOW	4005/5163		RPA1_HUMAN			Transcript			.	ENSP00000263857		CCDS42706.1			1	
CCDC62	0	LGGM	GRCh37	12	123262130	123262130	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	33	5	.	.	ENST00000253079.6:c.129G>C	p.Glu43Asp	p.E43D	ENST00000253079	NM_201435.4	43	gaG/gaC	0	1	1	UPI0000366924	0	NA	ENST00000253079		ENSG00000130783	30723		38	2.31		HGNC	p.E43D		CCDC62		SNV							ENST00000253079	protein_coding	getma.org/?cm=var&var=hg19,12,123262130,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18937:SF187,hmmpanther:PTHR18937		E/D		C	medium	473/3546		getma.org/?cm=msa&ty=f&p=CCD62_HUMAN&rb=9&re=672&var=E43D	deleterious(0)				YES	CCDC62,missense_variant,p.Glu43Asp,ENST00000253079,NM_201435.4;CCDC62,missense_variant,p.Glu43Asp,ENST00000392441,;CCDC62,5_prime_UTR_variant,,ENST00000537566,;CCDC62,intron_variant,,ENST00000539171,;CCDC62,upstream_gene_variant,,ENST00000392440,;CCDC62,missense_variant,p.Glu43Asp,ENST00000341952,;							MODERATE	129/2055	E43D	CCD62_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000253079		CCDS9238.1			1	
BTRC	0	LGGM	GRCh37	10	103281569	103281569	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	34	5	.	.	ENST00000370187.3:c.498G>A	p.Gly166=	p.G166=	ENST00000370187	NM_033637.3	166	ggG/ggA	0	1	1	UPI00000012B5	0		ENST00000370187		ENSG00000166167	1144		39			HGNC	p.G166G	rs761471014	BTRC	0.000606	SNV			1				ENST00000370187	protein_coding			hmmpanther:PTHR22844:SF143,hmmpanther:PTHR22844,Pfam_domain:PF12125,SMART_domains:SM01028		G		A		616/6134				Q5T1W7_HUMAN			YES	BTRC,synonymous_variant,p.=,ENST00000370187,NM_033637.3;BTRC,synonymous_variant,p.=,ENST00000393441,NM_001256856.1;BTRC,synonymous_variant,p.=,ENST00000408038,NM_003939.4;BTRC,synonymous_variant,p.=,ENST00000370183,;BTRC,non_coding_transcript_exon_variant,,ENST00000465182,;BTRC,downstream_gene_variant,,ENST00000475200,;							LOW	498/1818		FBW1A_HUMAN			Transcript			common_variant	ENSP00000359206	8.24E-05	CCDS7512.1			1	
ATG4D	0	LGGM	GRCh37	19	10662886	10662886	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	28	6	.	.	ENST00000309469.4:c.1128C>T	p.Phe376=	p.F376=	ENST00000309469	NM_032885.5	376	ttC/ttT	0	1	1	UPI000000DCA0	0		ENST00000309469		ENSG00000130734	20789		34			HGNC	p.F43F		ATG4D		SNV							ENST00000540862	protein_coding			hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF36,Pfam_domain:PF03416,Superfamily_domains:SSF54001		F		T		1301/1949				Q969K0_HUMAN,K7EKP6_HUMAN			YES	ATG4D,synonymous_variant,p.=,ENST00000309469,NM_032885.5,NM_001281504.1;ATG4D,synonymous_variant,p.=,ENST00000540862,;ATG4D,synonymous_variant,p.=,ENST00000588972,;ATG4D,intron_variant,,ENST00000585437,;KRI1,downstream_gene_variant,,ENST00000312962,NM_023008.3;KRI1,downstream_gene_variant,,ENST00000361821,;ATG4D,downstream_gene_variant,,ENST00000587256,;ATG4D,downstream_gene_variant,,ENST00000586863,;MIR1238,downstream_gene_variant,,ENST00000408483,;RNU7-140P,upstream_gene_variant,,ENST00000459546,;ATG4D,3_prime_UTR_variant,,ENST00000586417,;ATG4D,3_prime_UTR_variant,,ENST00000588667,;ATG4D,3_prime_UTR_variant,,ENST00000588857,;ATG4D,3_prime_UTR_variant,,ENST00000589753,;ATG4D,3_prime_UTR_variant,,ENST00000585752,;KRI1,downstream_gene_variant,,ENST00000536689,;KRI1,downstream_gene_variant,,ENST00000478863,;KRI1,downstream_gene_variant,,ENST00000537363,;ATG4D,downstream_gene_variant,,ENST00000590096,;KRI1,downstream_gene_variant,,ENST00000537433,;KRI1,downstream_gene_variant,,ENST00000543842,;							LOW	1128/1425		ATG4D_HUMAN			Transcript			.	ENSP00000311318		CCDS12241.1			1	
ANKRD26	0	LGGM	GRCh37	10	27301966	27301966	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	38	6	.	.	ENST00000376087.4:c.4798A>T	p.Thr1600Ser	p.T1600S	ENST00000376087	NM_014915.2	1600	Act/Tct	0	1	1	UPI000006FC41	0	NA	ENST00000376087		ENSG00000107890	29186		44	0.68		HGNC	p.T1600S		ANKRD26		SNV			1				ENST00000376087	protein_coding	getma.org/?cm=var&var=hg19,10,27301966,T,A&fts=all		Pfam_domain:PF12001,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17		T/S		A	neutral	4964/6591		getma.org/?cm=msa&ty=f&p=ANR26_HUMAN&rb=1521&re=1632&var=T1599S	tolerated(0.77)				YES	ANKRD26,missense_variant,p.Thr1600Ser,ENST00000376087,NM_014915.2,NM_001256053.1;ANKRD26,missense_variant,p.Thr1616Ser,ENST00000436985,;ANKRD26,missense_variant,p.Thr1157Ser,ENST00000376070,;ANKRD26,missense_variant,p.Thr88Ser,ENST00000445828,;							MODERATE	4798/5133	T1599S	ANR26_HUMAN			Transcript		benign(0.022)	.	ENSP00000365255		CCDS41499.1			1	
ZNF208	0	LGGM	GRCh37	19	22154895	22154895	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	128	6	.	.	ENST00000397126.4:c.2941G>C	p.Gly981Arg	p.G981R	ENST00000397126	NM_007153.3	981	Ggc/Cgc	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		134			HGNC	p.G981R		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/R		G		3090/3992			deleterious(0.01)				YES	ZNF208,missense_variant,p.Gly981Arg,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2941/3843		ZN208_HUMAN			Transcript		unknown(0)	.	ENSP00000380315		CCDS54240.1			1	
GPR158	0	LGGM	GRCh37	10	25464432	25464432	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	24	6	.	.	ENST00000376351.3:c.83C>A	p.Pro28His	p.P28H	ENST00000376351	NM_020752.2	28	cCc/cAc	0	1	1	UPI0000199875	0	NA	ENST00000376351		ENSG00000151025	23689		30	0.895		HGNC	p.P28H		GPR158		SNV							ENST00000376351	protein_coding	getma.org/?cm=var&var=hg19,10,25464432,C,A&fts=all		hmmpanther:PTHR32546:SF11,hmmpanther:PTHR32546		P/H		A	low	442/6959		getma.org/?cm=msa&ty=f&p=GP158_HUMAN&rb=1&re=405&var=P28H	deleterious_low_confidence(0.01)				YES	GPR158,missense_variant,p.Pro28His,ENST00000376351,NM_020752.2;GPR158-AS1,intron_variant,,ENST00000449643,;							MODERATE	83/3648	P28H	GP158_HUMAN			Transcript		benign(0.436)	.	ENSP00000365529		CCDS31166.1			1	
CD14	0	LGGM	GRCh37	5	140011842	140011842	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	22	6	.	.	ENST00000302014.6:c.727G>A	p.Ala243Thr	p.A243T	ENST00000302014	NM_000591.3	243	Gca/Aca	0	1	1	UPI000004A918	0	getma.org/pdb.php?prot=CD14_HUMAN&from=220&to=297&var=A243T	ENST00000302014		ENSG00000170458	1628		28	2.035		HGNC	p.A243T	rs758308201	CD14		SNV							ENST00000401743	protein_coding	getma.org/?cm=var&var=hg19,5,140011842,C,T&fts=all		Superfamily_domains:SSF52058,PIRSF_domain:PIRSF002017,Gene3D:3.80.10.10,hmmpanther:PTHR10630,hmmpanther:PTHR10630:SF2		A/T		T	medium	1357/1886		getma.org/?cm=msa&ty=f&p=CD14_HUMAN&rb=220&re=297&var=A243T	tolerated(0.07)	E7EVL5_HUMAN,D6RFL4_HUMAN,D6RD81_HUMAN			YES	CD14,missense_variant,p.Ala243Thr,ENST00000302014,NM_000591.3;CD14,missense_variant,p.Ala243Thr,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,;							MODERATE	727/1128	A243T	CD14_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000304236		CCDS4232.1			1	
KCNK2	0	LGGM	GRCh37	1	215259801	215259801	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	28	6	.	.	ENST00000444842.2:c.137C>T	p.Ser46Phe	p.S46F	ENST00000444842	NM_014217.3	46	tCc/tTc	0	1	1	UPI000013D4B8	0	NA	ENST00000444842		ENSG00000082482	6277		34	1.1		HGNC	p.S46F	COSM903788,COSM1151982	KCNK2		SNV						1,1	ENST00000470177	protein_coding	getma.org/?cm=var&var=hg19,1,215259801,C,T&fts=all		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF21		S/F		T	low	287/3379		getma.org/?cm=msa&ty=f&p=KCNK2_HUMAN&rb=1&re=116&var=S46F	deleterious_low_confidence(0.01)	C9JXY2_HUMAN,C9JDK1_HUMAN			YES	KCNK2,missense_variant,p.Ser46Phe,ENST00000444842,NM_014217.3,NM_001017425.2;KCNK2,missense_variant,p.Ser31Phe,ENST00000391894,;KCNK2,missense_variant,p.Ser42Phe,ENST00000391895,NM_001017424.2;KCNK2,5_prime_UTR_variant,,ENST00000457122,;KCNK2,5_prime_UTR_variant,,ENST00000478774,;KCNK2,missense_variant,p.Ser42Phe,ENST00000486921,;KCNK2,missense_variant,p.Ser42Phe,ENST00000467031,;KCNK2,missense_variant,p.Ser31Phe,ENST00000474771,;KCNK2,missense_variant,p.Ser46Phe,ENST00000470177,;					1,1		MODERATE	137/1281	S46F	KCNK2_HUMAN			Transcript		possibly_damaging(0.553)	.	ENSP00000394033		CCDS41467.1			1	
ZNF208	0	LGGM	GRCh37	19	22156994	22156994	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	136	6	.	.	ENST00000397126.4:c.842G>C	p.Gly281Ala	p.G281A	ENST00000397126	NM_007153.3	281	gGa/gCa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		142			HGNC	p.G281A		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		G/A		G		991/3992			deleterious(0.04)				YES	ZNF208,missense_variant,p.Gly281Ala,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	842/3843		ZN208_HUMAN			Transcript		benign(0.302)	.	ENSP00000380315		CCDS54240.1			1	
CD14	0	LGGM	GRCh37	5	140011841	140011841	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	22	6	.	.	ENST00000302014.6:c.728C>T	p.Ala243Val	p.A243V	ENST00000302014	NM_000591.3	243	gCa/gTa	0	1	1	UPI000004A918	0	getma.org/pdb.php?prot=CD14_HUMAN&from=220&to=297&var=A243V	ENST00000302014		ENSG00000170458	1628		28	2.585		HGNC	p.A243V		CD14		SNV							ENST00000401743	protein_coding	getma.org/?cm=var&var=hg19,5,140011841,G,A&fts=all		Superfamily_domains:SSF52058,PIRSF_domain:PIRSF002017,Gene3D:3.80.10.10,hmmpanther:PTHR10630,hmmpanther:PTHR10630:SF2		A/V		A	medium	1358/1886		getma.org/?cm=msa&ty=f&p=CD14_HUMAN&rb=220&re=297&var=A243V	tolerated(0.05)	E7EVL5_HUMAN,D6RFL4_HUMAN,D6RD81_HUMAN			YES	CD14,missense_variant,p.Ala243Val,ENST00000302014,NM_000591.3;CD14,missense_variant,p.Ala243Val,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,;							MODERATE	728/1128	A243V	CD14_HUMAN			Transcript		benign(0.099)	.	ENSP00000304236		CCDS4232.1			1	
C1orf222	0	LGGM	GRCh37	1	1922345	1922345	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	18	6	.	.	ENST00000378590.4:c.24C>G	p.Ala8=	p.A8=	ENST00000378590		8	gcC/gcG	0	1	1	UPI0000205CA6	0		ENST00000378590		ENSG00000142609	27917		24			HGNC	p.A17A		C1orf222		SNV							ENST00000270720	protein_coding			Low_complexity_(Seg):seg		A		C		24/441				Q5T2D8_HUMAN				C1orf222,synonymous_variant,p.=,ENST00000378590,;C1orf222,synonymous_variant,p.=,ENST00000434971,;C1orf222,non_coding_transcript_exon_variant,,ENST00000270720,;C1orf222,non_coding_transcript_exon_variant,,ENST00000468610,;C1orf222,non_coding_transcript_exon_variant,,ENST00000378592,;							LOW	24/279					Transcript			.	ENSP00000367853					1	
GLUD1	0	LGGM	GRCh37	10	88854383	88854383	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	19	6	.	.	ENST00000277865.4:c.144C>G	p.Ala48=	p.A48=	ENST00000277865	NM_005271.3	48	gcC/gcG	0	1	1	UPI0000001C96	0		ENST00000277865		ENSG00000148672	4335		25			HGNC	p.A48A		GLUD1		SNV			1				ENST00000277865	protein_coding			Low_complexity_(Seg):seg		A		C		241/3039				Q9UQV0_HUMAN,E9KL48_HUMAN,B3KV55_HUMAN			YES	GLUD1,synonymous_variant,p.=,ENST00000277865,NM_005271.3;FAM35A,5_prime_UTR_variant,,ENST00000437629,;FAM35A,upstream_gene_variant,,ENST00000298786,;FAM35A,upstream_gene_variant,,ENST00000298784,NM_019054.2;GLUD1,upstream_gene_variant,,ENST00000537649,;GLUD1,upstream_gene_variant,,ENST00000544149,;							LOW	144/1677		DHE3_HUMAN			Transcript			.	ENSP00000277865		CCDS7382.1			1	
PIK3AP1	0	LGGM	GRCh37	10	98386663	98386663	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	27	7	.	.	ENST00000339364.5:c.1472-1G>A		p.X491_splice	ENST00000339364	NM_152309.2			0	1	1	UPI00001F947F	0		ENST00000339364		ENSG00000155629	30034		34			HGNC	-		PIK3AP1		SNV							ENST00000339364	protein_coding							T		-/4803							YES	PIK3AP1,splice_acceptor_variant,,ENST00000339364,NM_152309.2;PIK3AP1,splice_acceptor_variant,,ENST00000371110,;PIK3AP1,splice_acceptor_variant,,ENST00000371109,;PIK3AP1,downstream_gene_variant,,ENST00000468783,;							HIGH	1472/2418		BCAP_HUMAN			Transcript			.	ENSP00000339826		CCDS31259.1			1	
SDK1	0	LGGM	GRCh37	7	3678643	3678643	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	12	7	.	.	ENST00000404826.2:c.466A>G	p.Ile156Val	p.I156V	ENST00000404826	NM_152744.3	156	Att/Gtt	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=106&to=187&var=I156V	ENST00000404826		ENSG00000146555	19307		19	1.795		HGNC	p.I156V		SDK1		SNV							ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,3678643,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		I/V		G	low	605/10397		getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=106&re=187&var=I156V	deleterious(0.03)				YES	SDK1,missense_variant,p.Ile156Val,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ile156Val,ENST00000389531,;AC011284.3,downstream_gene_variant,,ENST00000427920,;							MODERATE	466/6642	I156V	SDK1_HUMAN			Transcript		benign(0.268)	.	ENSP00000385899		CCDS34590.1			1	
DDX54	0	LGGM	GRCh37	12	113600997	113600997	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	9	7	.	.	ENST00000314045.7:c.2021G>T	p.Arg674Leu	p.R674L	ENST00000314045	NM_001111322.1	674	cGg/cTg	0	1		UPI00003588F0	0	NA	ENST00000306014		ENSG00000123064	20084		16	1.61		HGNC	p.R674L		DDX54		SNV							ENST00000306014	protein_coding	getma.org/?cm=var&var=hg19,12,113600997,C,A&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF71,Low_complexity_(Seg):seg		R/L		A	low	2049/4377		getma.org/?cm=msa&ty=f&p=DDX54_HUMAN&rb=634&re=713&var=R674L	tolerated(0.28)	F8VRX4_HUMAN				DDX54,missense_variant,p.Arg674Leu,ENST00000314045,NM_001111322.1;DDX54,missense_variant,p.Arg674Leu,ENST00000306014,NM_024072.3;DDX54,missense_variant,p.Arg77Leu,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,;							MODERATE	2021/2646	R674L	DDX54_HUMAN			Transcript		benign(0.008)	.	ENSP00000304072		CCDS31907.1			1	
N4BP2	0	LGGM	GRCh37	4	40127817	40127817	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	187	7	.	.	ENST00000261435.6:c.4394G>T	p.Gly1465Val	p.G1465V	ENST00000261435	NM_018177.4	1465	gGc/gTc	0	1	1	UPI00001A962C	0	NA	ENST00000261435		ENSG00000078177	29851		194	0.69		HGNC	p.G1465V		N4BP2		SNV							ENST00000261435	protein_coding	getma.org/?cm=var&var=hg19,4,40127817,G,T&fts=all		hmmpanther:PTHR13308:SF16,hmmpanther:PTHR13308		G/V		T	neutral	4810/9744		getma.org/?cm=msa&ty=f&p=N4BP2_HUMAN&rb=1357&re=1556&var=G1465V	deleterious(0)	D6R9J2_HUMAN			YES	N4BP2,missense_variant,p.Gly1465Val,ENST00000261435,NM_018177.4;N4BP2,missense_variant,p.Gly1112Val,ENST00000513269,;N4BP2,3_prime_UTR_variant,,ENST00000511480,;							MODERATE	4394/5313	G1465V	N4BP2_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000261435		CCDS3457.1			1	
ZNF208	0	LGGM	GRCh37	19	22155010	22155010	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	158	7	.	.	ENST00000397126.4:c.2826G>A	p.Glu942=	p.E942=	ENST00000397126	NM_007153.3	942	gaG/gaA	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		165			HGNC	p.E942E		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		E		T		2975/3992							YES	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							LOW	2826/3843		ZN208_HUMAN			Transcript			.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22154994	22154994	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	142	8	.	.	ENST00000397126.4:c.2842G>A	p.Glu948Lys	p.E948K	ENST00000397126	NM_007153.3	948	Gaa/Aaa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		150			HGNC	p.E948K	COSM3932975,COSM3932974,COSM3932976	ZNF208		SNV						1,1,1	ENST00000397126	protein_coding			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		E/K		T		2991/3992			tolerated(0.71)				YES	ZNF208,missense_variant,p.Glu948Lys,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;					1,1,1		MODERATE	2842/3843		ZN208_HUMAN			Transcript		unknown(0)	.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22154154	22154154	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	173	8	.	.	ENST00000397126.4:c.3682G>A	p.Glu1228Lys	p.E1228K	ENST00000397126	NM_007153.3	1228	Gaa/Aaa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		181			HGNC	p.E1228K	COSM3531406,COSM3531405,COSM3531407	ZNF208		SNV						1,1,1	ENST00000397126	protein_coding			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,Superfamily_domains:SSF57667		E/K		T		3831/3992			tolerated(0.78)				YES	ZNF208,missense_variant,p.Glu1228Lys,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;					1,1,1		MODERATE	3682/3843		ZN208_HUMAN			Transcript		benign(0.13)	.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22155598	22155598	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	183	8	.	.	ENST00000397126.4:c.2238G>C	p.Glu746Asp	p.E746D	ENST00000397126	NM_007153.3	746	gaG/gaC	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		191			HGNC	p.E746D		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		E/D		G		2387/3992			deleterious(0.05)				YES	ZNF208,missense_variant,p.Glu746Asp,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2238/3843		ZN208_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22157158	22157158	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	128	9	.	.	ENST00000397126.4:c.678G>C	p.Glu226Asp	p.E226D	ENST00000397126	NM_007153.3	226	gaG/gaC	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		137			HGNC	p.E226D		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		E/D		G		827/3992			tolerated(0.09)				YES	ZNF208,missense_variant,p.Glu226Asp,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	678/3843		ZN208_HUMAN			Transcript		benign(0.028)	.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22156036	22156036	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	167	9	.	.	ENST00000397126.4:c.1800G>C	p.Lys600Asn	p.K600N	ENST00000397126	NM_007153.3	600	aaG/aaC	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		176			HGNC	p.K600N		ZNF208		SNV							ENST00000397126	protein_coding			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		K/N		G		1949/3992			deleterious(0.05)				YES	ZNF208,missense_variant,p.Lys600Asn,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	1800/3843		ZN208_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22156104	22156104	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	165	9	.	.	ENST00000397126.4:c.1732G>A	p.Glu578Lys	p.E578K	ENST00000397126	NM_007153.3	578	Gag/Aag	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		174			HGNC	p.E578K		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		E/K		T		1881/3992			tolerated(0.08)				YES	ZNF208,missense_variant,p.Glu578Lys,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	1732/3843		ZN208_HUMAN			Transcript		benign(0.12)	.	ENSP00000380315		CCDS54240.1			1	
LARGE	0	LGGM	GRCh37	22	33700459	33700459	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	13	9	.	.	ENST00000354992.2:c.1486G>A	p.Glu496Lys	p.E496K	ENST00000354992	NM_004737.4	496	Gag/Aag	0	1	1	UPI000012E200	0	NA	ENST00000354992		ENSG00000133424	6511		22	1.21		HGNC	p.E496K		LARGE		SNV			1				ENST00000397394	protein_coding	getma.org/?cm=var&var=hg19,22,33700459,C,T&fts=all		hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF18		E/K		T	low	2058/4409		getma.org/?cm=msa&ty=f&p=LARGE_HUMAN&rb=473&re=539&var=E496K	tolerated(0.33)	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN			YES	LARGE,missense_variant,p.Glu173Lys,ENST00000608642,;LARGE,missense_variant,p.Glu496Lys,ENST00000354992,NM_004737.4;LARGE,missense_variant,p.Glu444Lys,ENST00000337431,;LARGE,missense_variant,p.Glu496Lys,ENST00000397394,NM_133642.3;LARGE,missense_variant,p.Glu444Lys,ENST00000402320,;LARGE,missense_variant,p.Glu496Lys,ENST00000437602,;LARGE,missense_variant,p.Glu295Lys,ENST00000452586,;LARGE,missense_variant,p.Glu173Lys,ENST00000610186,;LARGE,intron_variant,,ENST00000609799,;							MODERATE	1486/2271	E496K	LARGE_HUMAN			Transcript		benign(0.446)	.	ENSP00000347088		CCDS13912.1			1	
ZNF638	0	LGGM	GRCh37	2	71620721	71620721	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	87	9	.	.	ENST00000409544.1:c.2378-2550C>G		*793*	ENST00000409544	NM_001252612.1			0	1		UPI000013D51B	0		ENST00000264447		ENSG00000075292	17894		96			HGNC	p.L892L		ZNF638		SNV							ENST00000410075	protein_coding							G		-/6505				Q57Z90_HUMAN,C9JWN0_HUMAN,C9JSD0_HUMAN,C9JMR2_HUMAN,C9JHV0_HUMAN,A8K583_HUMAN				ZNF638,intron_variant,,ENST00000409544,NM_001252612.1;ZNF638,intron_variant,,ENST00000264447,NM_001014972.2,NM_014497.4,NM_001252613.1;ZNF638,intron_variant,,ENST00000355812,;ZNF638,non_coding_transcript_exon_variant,,ENST00000410075,;ZNF638,intron_variant,,ENST00000491843,;ZNF638,upstream_gene_variant,,ENST00000487638,;							MODIFIER	-/5937		ZN638_HUMAN			Transcript			.	ENSP00000264447		CCDS1917.1			1	
PIK3CD	0	LGGM	GRCh37	1	9778916	9778916	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	8	9	.	.	ENST00000377346.4:c.1185C>T	p.Tyr395=	p.Y395=	ENST00000377346	NM_005026.3	395	taC/taT	0	1	1	UPI000013E807	0		ENST00000377346		ENSG00000171608	8977		17			HGNC	p.Y395Y	rs769070246	PIK3CD	0.000121	SNV			1				ENST00000377346	protein_coding			PROSITE_profiles:PS51547,hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Pfam_domain:PF00792,Gene3D:2.60.40.150,SMART_domains:SM00142,Superfamily_domains:SSF49562		Y		T		1380/5203				B7ZM44_HUMAN			YES	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,;							LOW	1185/3135		PK3CD_HUMAN			Transcript			.	ENSP00000366563	1.65E-05	CCDS104.1			1	
ZNF208	0	LGGM	GRCh37	19	22155327	22155327	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	188	9	.	.	ENST00000397126.4:c.2509G>C	p.Glu837Gln	p.E837Q	ENST00000397126	NM_007153.3	837	Gaa/Caa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		197			HGNC	p.E837Q		ZNF208		SNV							ENST00000397126	protein_coding			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,Superfamily_domains:SSF57667		E/Q		G		2658/3992			tolerated(0.08)				YES	ZNF208,missense_variant,p.Glu837Gln,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2509/3843		ZN208_HUMAN			Transcript		unknown(0)	.	ENSP00000380315		CCDS54240.1			1	
C1orf173	0	LGGM	GRCh37	1	75036817	75036817	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	41	9	.	.	ENST00000326665.5:c.4577A>G	p.Asn1526Ser	p.N1526S	ENST00000326665	NM_001002912.4	1526	aAc/aGc	0	1	1	UPI0000237200	0	NA	ENST00000326665		ENSG00000178965	25346		50	-0.345		HGNC	p.N1526S		C1orf173		SNV							ENST00000326665	protein_coding	getma.org/?cm=var&var=hg19,1,75036817,T,C&fts=all				N/S		C	neutral	4796/7159		getma.org/?cm=msa&ty=f&p=CA173_HUMAN&rb=1276&re=1528&var=N1526S	tolerated(0.18)				YES	C1orf173,missense_variant,p.Asn1526Ser,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;							MODERATE	4577/4593	N1526S	CA173_HUMAN			Transcript		benign(0.002)	.	ENSP00000322609		CCDS30755.1			1	
WDR65	0	LGGM	GRCh37	1	43663352	43663352	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	46	9	.	.	ENST00000528956.1:c.1251T>C	p.Asn417=	p.N417=	ENST00000528956	NM_152498.3	417	aaT/aaC	0	1		UPI0001D89705	0		ENST00000372492		ENSG00000243710	26485		55			HGNC	p.N417N		WDR65		SNV			1				ENST00000372492	protein_coding			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		N		C		1575/4244				E9PRV3_HUMAN				WDR65,synonymous_variant,p.=,ENST00000372492,NM_001195831.2;WDR65,synonymous_variant,p.=,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,;							LOW	1251/3753		WDR65_HUMAN			Transcript			.	ENSP00000361570					1	
METTL25	0	LGGM	GRCh37	12	82793142	82793142	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	40	9	.	.	ENST00000248306.3:c.1100C>T	p.Ser367Leu	p.S367L	ENST00000248306	NM_032230.2	367	tCa/tTa	0	1	1	UPI000013CC3E	0	NA	ENST00000248306		ENSG00000127720	26228		49	1.275		HGNC	p.S2L		METTL25		SNV							ENST00000550298	protein_coding	getma.org/?cm=var&var=hg19,12,82793142,C,T&fts=all		Pfam_domain:PF13679,hmmpanther:PTHR12496,hmmpanther:PTHR12496:SF0		S/L		T	low	1169/2093		getma.org/?cm=msa&ty=f&p=CL026_HUMAN&rb=154&re=420&var=S367L	deleterious(0)	F8VZA8_HUMAN			YES	METTL25,missense_variant,p.Ser367Leu,ENST00000248306,NM_032230.2;METTL25,missense_variant,p.Ser2Leu,ENST00000550298,;METTL25,downstream_gene_variant,,ENST00000548200,;METTL25,downstream_gene_variant,,ENST00000550058,;METTL25,non_coding_transcript_exon_variant,,ENST00000547357,;METTL25,downstream_gene_variant,,ENST00000551722,;							MODERATE	1100/1812	S367L	MET25_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000248306		CCDS9024.1			1	
MARCH10	0	LGGM	GRCh37	17	60799953	60799953	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	13	9	.	.	ENST00000311269.5:c.2110G>A	p.Asp704Asn	p.D704N	ENST00000311269	NM_152598.2	704	Gat/Aat	0	1	1	UPI000013F13A	0	getma.org/pdb.php?prot=MARHA_HUMAN&from=659&to=714&var=D704N	ENST00000311269		ENSG00000173838	26655		22	-0.755		HGNC	p.D704N		MARCH10		SNV							ENST00000311269	protein_coding	getma.org/?cm=var&var=hg19,17,60799953,C,T&fts=all		PROSITE_profiles:PS51292,hmmpanther:PTHR14471,hmmpanther:PTHR14471:SF5,Pfam_domain:PF12906,Gene3D:3.30.40.10,SMART_domains:SM00744,Superfamily_domains:SSF57850		D/N		T	neutral	2385/3090		getma.org/?cm=msa&ty=f&p=MARHA_HUMAN&rb=659&re=714&var=D704N	tolerated(0.14)	J3KTK3_HUMAN			YES	MARCH10,missense_variant,p.Asp703Asn,ENST00000544856,NM_001288780.1;MARCH10,missense_variant,p.Asp742Asn,ENST00000583600,NM_001288779.1;MARCH10,missense_variant,p.Asp704Asn,ENST00000311269,NM_152598.2;MARCH10,missense_variant,p.Asp704Asn,ENST00000456609,NM_001100875.1;MARCH10,missense_variant,p.Asp572Asn,ENST00000580520,;MARCH10,intron_variant,,ENST00000579620,;RP11-156L14.1,intron_variant,,ENST00000577270,;RP11-156L14.1,intron_variant,,ENST00000582564,;RP11-156L14.1,intron_variant,,ENST00000579201,;RP11-156L14.1,intron_variant,,ENST00000584597,;							MODERATE	2110/2427	D704N	MARHA_HUMAN			Transcript		benign(0.335)	.	ENSP00000311496		CCDS11635.1			1	
ZSCAN4	0	LGGM	GRCh37	19	58189709	58189709	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	27	9	.	.	ENST00000318203.5:c.738A>T	p.Ala246=	p.A246=	ENST00000318203	NM_152677.2	246	gcA/gcT	0	1	1	UPI000006E923	0		ENST00000318203		ENSG00000180532	23709		36			HGNC	p.A246A		ZSCAN4		SNV							ENST00000318203	protein_coding			hmmpanther:PTHR23226:SF45,hmmpanther:PTHR23226		A		T		1435/2246							YES	ZSCAN4,synonymous_variant,p.=,ENST00000318203,NM_152677.2;ZNF551,upstream_gene_variant,,ENST00000282296,;ZNF551,upstream_gene_variant,,ENST00000356715,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;							LOW	738/1302		ZSCA4_HUMAN			Transcript			.	ENSP00000321963		CCDS12958.1			1	
ZNF208	0	LGGM	GRCh37	19	22157559	22157559	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	141	10	.	.	ENST00000397126.4:c.277G>A	p.Asp93Asn	p.D93N	ENST00000397126	NM_007153.3	93	Gat/Aat	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		151			HGNC	p.D93N	COSM4076304,COSM4076303,COSM4076305	ZNF208		SNV						1,1,1	ENST00000599916	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103		D/N		T		426/3992			tolerated(0.16)				YES	ZNF208,missense_variant,p.Asp93Asn,ENST00000397126,NM_007153.3;ZNF208,missense_variant,p.Asp93Asn,ENST00000599916,;ZNF208,intron_variant,,ENST00000601773,;					1,1,1		MODERATE	277/3843		ZN208_HUMAN			Transcript		benign(0.073)	.	ENSP00000380315		CCDS54240.1			1	
ZNF208	0	LGGM	GRCh37	19	22155698	22155698	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	156	10	.	.	ENST00000397126.4:c.2138G>C	p.Arg713Thr	p.R713T	ENST00000397126	NM_007153.3	713	aGa/aCa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		166			HGNC	p.R713T		ZNF208		SNV							ENST00000397126	protein_coding			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		R/T		G		2287/3992			tolerated(0.07)				YES	ZNF208,missense_variant,p.Arg713Thr,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2138/3843		ZN208_HUMAN			Transcript		benign(0.067)	.	ENSP00000380315		CCDS54240.1			1	
FBN2	0	LGGM	GRCh37	5	127641254	127641254	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	35	11	.	.	ENST00000508053.1:c.5623C>A	p.Arg1875Ser	p.R1875S	ENST00000508053		1875	Cgc/Agc	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=1850&to=1890&var=R1875S	ENST00000262464		ENSG00000138829	3604		46	1.125		HGNC	p.R1875S		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127641254,G,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS00010,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		R/S		T	low	6062/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=1850&re=1890&var=R1875S	deleterious(0.03)					FBN2,missense_variant,p.Arg1875Ser,ENST00000508053,;FBN2,missense_variant,p.Arg1875Ser,ENST00000262464,NM_001999.3;							MODERATE	5623/8739	R1875S	FBN2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000262464		CCDS34222.1			1	
BCL2L15	0	LGGM	GRCh37	1	114424530	114424530	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	33	11	.	.	ENST00000393316.3:c.339G>T	p.Leu113=	p.L113=	ENST00000393316	NM_001010922.2	113	ctG/ctT	0	1	1	UPI00001B64D8	0		ENST00000393316		ENSG00000188761	33624		44			HGNC	p.L113L		BCL2L15		SNV							ENST00000393316	protein_coding			Gene3D:1.10.437.10,Superfamily_domains:SSF56854		L		A		511/1084							YES	BCL2L15,synonymous_variant,p.=,ENST00000393316,NM_001010922.2;BCL2L15,intron_variant,,ENST00000393320,;BCL2L15,intron_variant,,ENST00000471267,;AP4B1-AS1,intron_variant,,ENST00000419536,;BCL2L15,non_coding_transcript_exon_variant,,ENST00000488450,;BCL2L15,non_coding_transcript_exon_variant,,ENST00000369580,;BCL2L15,non_coding_transcript_exon_variant,,ENST00000486485,;							LOW	339/492		B2L15_HUMAN			Transcript			.	ENSP00000376992		CCDS30809.1			1	
ZNF23	0	LGGM	GRCh37	16	71482985	71482985	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	18	11	.	.	ENST00000393539.2:c.943A>G	p.Lys315Glu	p.K315E	ENST00000393539	NM_145911.1	315	Aaa/Gaa	0	1		UPI000013C406	0	getma.org/pdb.php?prot=ZNF23_HUMAN&from=294&to=318&var=K315E	ENST00000357254		ENSG00000167377	13023		29	2.02		HGNC	p.K257E		ZNF23		SNV							ENST00000428724	protein_coding	getma.org/?cm=var&var=hg19,16,71482985,T,C&fts=all		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		K/E		C	medium	1701/3186		getma.org/?cm=msa&ty=f&p=ZNF23_HUMAN&rb=274&re=338&var=K315E	deleterious(0)	Q8NDP5_HUMAN,H3BPE6_HUMAN				ZNF23,missense_variant,p.Lys315Glu,ENST00000393539,NM_145911.1;ZNF23,missense_variant,p.Lys315Glu,ENST00000417828,;ZNF23,missense_variant,p.Lys315Glu,ENST00000357254,;ZNF23,missense_variant,p.Lys257Glu,ENST00000564528,;ZNF23,missense_variant,p.Lys257Glu,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,;							MODERATE	943/1932	K315E	ZNF23_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000349796		CCDS10900.1			1	
ZNF208	0	LGGM	GRCh37	19	22155448	22155448	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	177	12	.	.	ENST00000397126.4:c.2388G>C	p.Lys796Asn	p.K796N	ENST00000397126	NM_007153.3	796	aaG/aaC	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		189			HGNC	p.K796N		ZNF208		SNV							ENST00000397126	protein_coding			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		K/N		G		2537/3992			deleterious(0.01)				YES	ZNF208,missense_variant,p.Lys796Asn,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2388/3843		ZN208_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000380315		CCDS54240.1			1	
MKLN1	0	LGGM	GRCh37	7	131172425	131172425	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	49	12	.	.	ENST00000352689.6:c.2146A>G	p.Asn716Asp	p.N716D	ENST00000352689	NM_013255.4	716	Aat/Gat	0	1	1	UPI0000034CB0	0	NA	ENST00000352689		ENSG00000128585	7109		61	0		HGNC	p.N624D		MKLN1		SNV							ENST00000421797	protein_coding	getma.org/?cm=var&var=hg19,7,131172425,A,G&fts=all		hmmpanther:PTHR15526,hmmpanther:PTHR15526:SF5		N/D		G	neutral	2186/11156		getma.org/?cm=msa&ty=f&p=MKLN1_HUMAN&rb=704&re=735&var=N716D	tolerated(0.54)	F8WEY7_HUMAN,C9JXB0_HUMAN,C9JWX9_HUMAN,C9JVL5_HUMAN,C9J7E8_HUMAN			YES	MKLN1,missense_variant,p.Asn716Asp,ENST00000352689,NM_013255.4;MKLN1,missense_variant,p.Asn624Asp,ENST00000421797,NM_001145354.1;MKLN1,non_coding_transcript_exon_variant,,ENST00000498778,;MKLN1,3_prime_UTR_variant,,ENST00000458153,;MKLN1,non_coding_transcript_exon_variant,,ENST00000468830,;							MODERATE	2146/2208	N716D	MKLN1_HUMAN			Transcript		benign(0.003)	.	ENSP00000323527		CCDS34754.1			1	
ALB	0	LGGM	GRCh37	4	74274393	74274395	+	inframe_deletion	In_Frame_Del	DEL	AAG	AAG	-	novel	by Submitter	H104044	H104044N.bam	AAG	AAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	19	12	.	.	ENST00000295897.4:c.355_357del	p.Glu119del	p.E119del	ENST00000295897	NM_000477.5	118	cAAGaa/caa	0	1	1	UPI000002C1AC	0		ENST00000295897		ENSG00000163631	399		31			HGNC	p.118_119del		ALB		deletion			1				ENST00000295897	protein_coding			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,Prints_domain:PR00802		QE/Q		-		442-444/2263							YES	ALB,inframe_deletion,p.Glu119del,ENST00000295897,NM_000477.5;ALB,inframe_deletion,p.Glu119del,ENST00000509063,;ALB,inframe_deletion,p.Glu121del,ENST00000441319,;ALB,intron_variant,,ENST00000503124,;ALB,intron_variant,,ENST00000401494,;ALB,intron_variant,,ENST00000415165,;ALB,upstream_gene_variant,,ENST00000511370,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,non_coding_transcript_exon_variant,,ENST00000514786,;ALB,non_coding_transcript_exon_variant,,ENST00000510166,;ALB,non_coding_transcript_exon_variant,,ENST00000515133,;ALB,intron_variant,,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000507673,;							MODERATE	353-355/1830		ALBU_HUMAN			Transcript	2		.	ENSP00000295897		CCDS3555.1			1	
KCNH7	0	LGGM	GRCh37	2	163280034	163280034	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	32	13	.	.	ENST00000332142.5:c.1966G>A	p.Ala656Thr	p.A656T	ENST00000332142	NM_033272.3	656	Gca/Aca	0	1	1	UPI0000167D11	0	NA	ENST00000332142		ENSG00000184611	18863		45	2.715		HGNC	p.A656T		KCNH7		SNV							ENST00000332142	protein_coding	getma.org/?cm=var&var=hg19,2,163280034,C,T&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF466,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		A/T		T	medium	2066/4113		getma.org/?cm=msa&ty=f&p=KCNH7_HUMAN&rb=453&re=662&var=A656T	deleterious(0)				YES	KCNH7,missense_variant,p.Ala656Thr,ENST00000332142,NM_033272.3;KCNH7,missense_variant,p.Ala649Thr,ENST00000328032,NM_173162.2;							MODERATE	1966/3591	A656T	KCNH7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000331727		CCDS2219.1			1	
GC	0	LGGM	GRCh37	4	72620728	72620728	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	16	13	.	.	ENST00000504199.1:c.1188T>C	p.Asp396=	p.D396=	ENST00000504199	NM_001204307.1	396	gaT/gaC	0	1		UPI000013D9E0	0		ENST00000273951		ENSG00000145321	4187		29			HGNC	p.D377D		GC		SNV			1				ENST00000513476	protein_coding			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		D		G		1475/1972				D6RF20_HUMAN				GC,synonymous_variant,p.=,ENST00000273951,NM_001204306.1,NM_000583.3;GC,synonymous_variant,p.=,ENST00000504199,NM_001204307.1;GC,synonymous_variant,p.=,ENST00000513476,;RNA5SP163,downstream_gene_variant,,ENST00000410304,;GC,non_coding_transcript_exon_variant,,ENST00000503472,;GC,upstream_gene_variant,,ENST00000503364,;GC,intron_variant,,ENST00000509740,;							LOW	1131/1425		VTDB_HUMAN			Transcript			.	ENSP00000273951		CCDS3550.1			1	
ZNF208	0	LGGM	GRCh37	19	22155414	22155414	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	175	13	.	.	ENST00000397126.4:c.2422G>A	p.Glu808Lys	p.E808K	ENST00000397126	NM_007153.3	808	Gaa/Aaa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		188			HGNC	p.E808K		ZNF208		SNV							ENST00000397126	protein_coding			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		E/K		T		2571/3992			tolerated(0.63)				YES	ZNF208,missense_variant,p.Glu808Lys,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2422/3843		ZN208_HUMAN			Transcript		unknown(0)	.	ENSP00000380315		CCDS54240.1			1	
HIRA	0	LGGM	GRCh37	22	19319043	19319043	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	18	14	.	.	ENST00000263208.5:c.2974C>G	p.Pro992Ala	p.P992A	ENST00000263208	NM_003325.3	992	Cca/Gca	0	1	1	UPI0000074373	0	NA	ENST00000263208		ENSG00000100084	4916		32	2.115		HGNC	p.P785A		HIRA		SNV			1				ENST00000340170	protein_coding	getma.org/?cm=var&var=hg19,22,19319043,G,C&fts=all		hmmpanther:PTHR13831,hmmpanther:PTHR13831:SF0		P/A		C	medium	3231/4053		getma.org/?cm=msa&ty=f&p=HIRA_HUMAN&rb=963&re=1017&var=P992A	tolerated(0.09)	F5H4M2_HUMAN			YES	HIRA,missense_variant,p.Pro992Ala,ENST00000263208,NM_003325.3;HIRA,missense_variant,p.Pro948Ala,ENST00000541063,;HIRA,missense_variant,p.Pro785Ala,ENST00000340170,;							MODERATE	2974/3054	P992A	HIRA_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000263208		CCDS13759.1			1	
LRIF1	0	LGGM	GRCh37	1	111495356	111495356	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	37	14	.	.	ENST00000369763.4:c.150G>T	p.Lys50Asn	p.K50N	ENST00000369763	NM_018372.3	50	aaG/aaT	0	1	1	UPI0000205296	0	NA	ENST00000369763		ENSG00000121931	30299		51	0.11		HGNC	p.K50N		LRIF1		SNV							ENST00000369763	protein_coding	getma.org/?cm=var&var=hg19,1,111495356,C,A&fts=all		hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2		K/N		A	neutral	541/3475		getma.org/?cm=msa&ty=f&p=LRIF1_HUMAN&rb=1&re=200&var=K50N	tolerated(0.51)				YES	LRIF1,missense_variant,p.Lys50Asn,ENST00000369763,NM_018372.3;LRIF1,5_prime_UTR_variant,,ENST00000494675,;LRIF1,intron_variant,,ENST00000485275,NM_001006945.1;RP11-96K19.2,non_coding_transcript_exon_variant,,ENST00000440689,;							MODERATE	150/2310	K50N	LRIF1_HUMAN			Transcript		benign(0)	.	ENSP00000358778		CCDS30800.1			1	
COL6A6	0	LGGM	GRCh37	3	130287413	130287413	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	113	15	.	.	ENST00000358511.6:c.2366A>T	p.Asp789Val	p.D789V	ENST00000358511	NM_001102608.1	789	gAt/gTt	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=622&to=791&var=D789V	ENST00000358511		ENSG00000206384	27023		128	1.87		HGNC	p.D789V		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130287413,A,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		D/V		T	low	2397/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=622&re=791&var=D789V	deleterious(0)				YES	COL6A6,missense_variant,p.Asp789Val,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Asp789Val,ENST00000453409,;							MODERATE	2366/6792	D789V	CO6A6_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000351310		CCDS46911.1			1	
MAP1A	0	LGGM	GRCh37	15	43814204	43814204	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	15	.	.	ENST00000300231.5:c.533G>A	p.Arg178His	p.R178H	ENST00000300231		178	cGt/cAt	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		46	2.965		HGNC	p.R178H	rs750179744,COSM115908	MAP1A		SNV				0.000102		0,1	ENST00000399453	protein_coding	getma.org/?cm=var&var=hg19,15,43814204,G,A&fts=all		hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		R/H		A	medium	983/10258	1.50E-05	getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=1&re=200&var=R178H					YES	MAP1A,missense_variant,p.Arg416His,ENST00000382031,;MAP1A,missense_variant,p.Arg178His,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Arg178His,ENST00000300231,;					0,1		MODERATE	533/8412	R178H	MAP1A_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000300231	1.65E-05	CCDS42031.1			1	
FNDC3B	0	LGGM	GRCh37	3	172061896	172061896	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	49	15	.	.	ENST00000336824.4:c.2098G>A	p.Gly700Ser	p.G700S	ENST00000336824	NM_001135095.1	700	Ggc/Agc	0	1	1	UPI00001AE8B2	0	getma.org/pdb.php?prot=FND3B_HUMAN&from=674&to=755&var=G700S	ENST00000336824		ENSG00000075420	24670		64	1.395		HGNC	p.G700S		FNDC3B		SNV							ENST00000415807	protein_coding	getma.org/?cm=var&var=hg19,3,172061896,G,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/S		A	low	2197/7904		getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=674&re=755&var=G700S	tolerated(0.06)				YES	FNDC3B,missense_variant,p.Gly700Ser,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Gly700Ser,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Gly700Ser,ENST00000416957,;FNDC3B,upstream_gene_variant,,ENST00000490832,;							MODERATE	2098/3615	G700S	FND3B_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000338523		CCDS3217.1			1	
TOP2B	0	LGGM	GRCh37	3	25666194	25666194	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	138	16	.	.	ENST00000435706.2:c.2310G>T	p.Met770Ile	p.M770I	ENST00000435706	NM_001068.3	770	atG/atT	0	1		UPI000013719A	0	getma.org/pdb.php?prot=TOP2B_HUMAN&from=734&to=1190&var=M775I	ENST00000264331		ENSG00000077097	11990		154	1.29		HGNC	p.M775I		TOP2B		SNV							ENST00000264331	protein_coding	getma.org/?cm=var&var=hg19,3,25666194,C,A&fts=all		Gene3D:3.90.199.10,Pfam_domain:PF00521,Prints_domain:PR01158,hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,SMART_domains:SM00434,Superfamily_domains:SSF56719		M/I		A	low	2325/5189		getma.org/?cm=msa&ty=f&p=TOP2B_HUMAN&rb=734&re=1190&var=M775I	tolerated(0.18)	Q8WTY5_HUMAN,Q6LC06_HUMAN,Q6LBI8_HUMAN,B4DLV2_HUMAN				TOP2B,missense_variant,p.Met770Ile,ENST00000435706,NM_001068.3;TOP2B,missense_variant,p.Met775Ile,ENST00000264331,;TOP2B,missense_variant,p.Met770Ile,ENST00000424225,;TOP2B,upstream_gene_variant,,ENST00000542520,;TOP2B,non_coding_transcript_exon_variant,,ENST00000470132,;TOP2B,downstream_gene_variant,,ENST00000491510,;							MODERATE	2325/4881	M775I	TOP2B_HUMAN			Transcript		benign(0.135)	.	ENSP00000264331					1	
TADA2A	0	LGGM	GRCh37	17	35800708	35800708	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	43	16	.	.	ENST00000394395.2:c.387G>C	p.Leu129=	p.L129=	ENST00000394395	NM_001166105.1	129	ctG/ctC	0	1	1	UPI000013C868	0		ENST00000394395		ENSG00000108264	11531		59			HGNC	p.L97L		TADA2A		SNV							ENST00000589153	protein_coding			hmmpanther:PTHR12374:SF18,hmmpanther:PTHR12374,PIRSF_domain:PIRSF025024		L		C		560/4253				K7ER71_HUMAN,K7EME2_HUMAN,K7EKE3_HUMAN,B3KU13_HUMAN			YES	TADA2A,synonymous_variant,p.=,ENST00000394395,NM_001166105.1;TADA2A,synonymous_variant,p.=,ENST00000225396,NM_001488.3;TADA2A,synonymous_variant,p.=,ENST00000417170,NM_133439.2;TADA2A,synonymous_variant,p.=,ENST00000586023,;TADA2A,synonymous_variant,p.=,ENST00000590957,;TADA2A,synonymous_variant,p.=,ENST00000589153,;TADA2A,downstream_gene_variant,,ENST00000590005,;TADA2A,non_coding_transcript_exon_variant,,ENST00000591992,;TADA2A,synonymous_variant,p.=,ENST00000490992,;TADA2A,synonymous_variant,p.=,ENST00000587593,;TADA2A,3_prime_UTR_variant,,ENST00000587420,;TADA2A,downstream_gene_variant,,ENST00000585341,;TADA2A,downstream_gene_variant,,ENST00000587211,;							LOW	387/1332		TAD2A_HUMAN			Transcript			.	ENSP00000377918		CCDS11319.1			1	
IL1RL1	0	LGGM	GRCh37	2	102964461	102964461	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	27	16	.	.	ENST00000233954.1:c.1027A>G	p.Ile343Val	p.I343V	ENST00000233954	NM_016232.4	343	Atc/Gtc	0	1	1	UPI000013C992	0	NA	ENST00000233954		ENSG00000115602	5998		43	2.3		HGNC	p.I343V		IL1RL1		SNV							ENST00000233954	protein_coding	getma.org/?cm=var&var=hg19,2,102964461,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11890:SF7,hmmpanther:PTHR11890,Prints_domain:PR01537		I/V		G	medium	1298/2058		getma.org/?cm=msa&ty=f&p=ILRL1_HUMAN&rb=308&re=378&var=I343V	tolerated(0.1)	C9JSY6_HUMAN,A8VPX0_HUMAN			YES	IL1RL1,missense_variant,p.Ile343Val,ENST00000233954,NM_016232.4;IL18R1,intron_variant,,ENST00000410040,;IL1RL1,downstream_gene_variant,,ENST00000311734,NM_001282408.1;IL1RL1,downstream_gene_variant,,ENST00000409584,NM_003856.2;IL1RL1,downstream_gene_variant,,ENST00000404917,;IL1RL1,downstream_gene_variant,,ENST00000482701,;IL1RL1,downstream_gene_variant,,ENST00000427077,;							MODERATE	1027/1671	I343V	ILRL1_HUMAN			Transcript		benign(0.026)	.	ENSP00000233954		CCDS2057.1			1	
YWHAG	0	LGGM	GRCh37	7	75959381	75959381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	55	16	.	.	ENST00000307630.3:c.257G>T	p.Arg86Leu	p.R86L	ENST00000307630	NM_012479.3	86	cGg/cTg	0	1	1	UPI000000106B	0	getma.org/pdb.php?prot=1433G_HUMAN&from=4&to=241&var=R86L	ENST00000307630		ENSG00000170027	12852		71	2.275		HGNC	p.R86L		YWHAG		SNV							ENST00000307630	protein_coding	getma.org/?cm=var&var=hg19,7,75959381,C,A&fts=all		hmmpanther:PTHR18860,hmmpanther:PTHR18860:SF2,Gene3D:3iquA00,Pfam_domain:PF00244,SMART_domains:SM00101,PIRSF_domain:PIRSF000868,Superfamily_domains:SSF48445,Prints_domain:PR00305		R/L		A	medium	480/3745		getma.org/?cm=msa&ty=f&p=1433G_HUMAN&rb=4&re=241&var=R86L	deleterious_low_confidence(0)	B4DHC4_HUMAN			YES	YWHAG,missense_variant,p.Arg86Leu,ENST00000307630,NM_012479.3;							MODERATE	257/744	R86L	1433G_HUMAN			Transcript		probably_damaging(0.912)	.	ENSP00000306330		CCDS5584.1			1	
LRP1B	0	LGGM	GRCh37	2	141093203	141093203	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	52	17	.	.	ENST00000389484.3:c.12097G>A	p.Ala4033Thr	p.A4033T	ENST00000389484	NM_018557.2	4033	Gca/Aca	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3881&to=4038&var=A4033T	ENST00000389484		ENSG00000168702	6693		69	1.07		HGNC	p.A4033T		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141093203,C,T&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825		A/T		T	low	13069/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3881&re=4038&var=A4033T		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			YES	LRP1B,missense_variant,p.Ala4033Thr,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Ala265Thr,ENST00000437977,;							MODERATE	12097/13800	A4033T	LRP1B_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000374135		CCDS2182.1			1	
ZNF385D	0	LGGM	GRCh37	3	21552384	21552384	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	46	17	.	.	ENST00000281523.2:c.408C>T	p.Thr136=	p.T136=	ENST00000281523	NM_024697.2	136	acC/acT	0	1	1	UPI00000724AC	0		ENST00000281523		ENSG00000151789	26191		63			HGNC	p.T136T		ZNF385D		SNV							ENST00000281523	protein_coding			hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF12,Low_complexity_(Seg):seg		T		A		927/4498							YES	ZNF385D,synonymous_variant,p.=,ENST00000281523,NM_024697.2;ZNF385D,non_coding_transcript_exon_variant,,ENST00000494118,;ZNF385D,non_coding_transcript_exon_variant,,ENST00000495739,;ZNF385D,3_prime_UTR_variant,,ENST00000446749,;							LOW	408/1188		Z385D_HUMAN			Transcript			.	ENSP00000281523		CCDS2636.1			1	
RYR3	0	LGGM	GRCh37	15	33955825	33955825	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	39	18	.	.	ENST00000389232.4:c.5506A>G	p.Lys1836Glu	p.K1836E	ENST00000389232	NM_001036.3	1836	Aag/Gag	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		57	0.635		HGNC	p.K1836E		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33955825,A,G&fts=all		hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		K/E		G	neutral	5576/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=1666&re=1865&var=K1836E					YES	RYR3,missense_variant,p.Lys1836Glu,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Lys1836Glu,ENST00000415757,NM_001243996.1;							MODERATE	5506/14613	K1836E	RYR3_HUMAN			Transcript		benign(0.23)	.	ENSP00000373884		CCDS45210.1			1	
ZNF208	0	LGGM	GRCh37	19	22154574	22154574	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	255	19	.	.	ENST00000397126.4:c.3262G>A	p.Glu1088Lys	p.E1088K	ENST00000397126	NM_007153.3	1088	Gaa/Aaa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		274			HGNC	p.E1088K		ZNF208		SNV							ENST00000397126	protein_coding			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		E/K		T		3411/3992			tolerated(0.75)				YES	ZNF208,missense_variant,p.Glu1088Lys,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	3262/3843		ZN208_HUMAN			Transcript		benign(0.219)	.	ENSP00000380315		CCDS54240.1			1	
RPS6KA5	0	LGGM	GRCh37	14	91360884	91360884	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	23	20	.	.	ENST00000261991.3:c.1517T>G	p.Leu506Arg	p.L506R	ENST00000261991	NM_004755.2	506	cTg/cGg	0	1	1	UPI0000031C30	0	getma.org/pdb.php?prot=KS6A5_HUMAN&from=427&to=687&var=L506R	ENST00000261991		ENSG00000100784	10434		43	4.46		HGNC	p.L427R		RPS6KA5		SNV							ENST00000536315	protein_coding	getma.org/?cm=var&var=hg19,14,91360884,A,C&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PIRSF_domain:PIRSF000606,PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF42,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/R		C	high	1691/4202		getma.org/?cm=msa&ty=f&p=KS6A5_HUMAN&rb=427&re=687&var=L506R	deleterious(0.01)	Q9UG98_HUMAN,B7Z2Y5_HUMAN			YES	RPS6KA5,missense_variant,p.Leu506Arg,ENST00000261991,NM_004755.2;RPS6KA5,missense_variant,p.Leu427Arg,ENST00000536315,;RPS6KA5,missense_variant,p.Leu506Arg,ENST00000418736,NM_182398.1;RPS6KA5,3_prime_UTR_variant,,ENST00000556178,;							MODERATE	1517/2409	L506R	KS6A5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000261991		CCDS9893.1			1	
TOP2B	0	LGGM	GRCh37	3	25668355	25668355	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	37	23	.	.	ENST00000435706.2:c.2002G>C	p.Ala668Pro	p.A668P	ENST00000435706	NM_001068.3	668	Gca/Cca	0	1		UPI000013719A	0	getma.org/pdb.php?prot=TOP2B_HUMAN&from=595&to=733&var=A673P	ENST00000264331		ENSG00000077097	11990		60	3.84		HGNC	p.A673P		TOP2B		SNV							ENST00000264331	protein_coding	getma.org/?cm=var&var=hg19,3,25668355,C,G&fts=all		hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,SMART_domains:SM00433,Superfamily_domains:SSF56719		A/P		G	high	2017/5189		getma.org/?cm=msa&ty=f&p=TOP2B_HUMAN&rb=595&re=733&var=A673P	deleterious(0)	Q8WTY5_HUMAN,Q6LC06_HUMAN,Q6LBI8_HUMAN,B4DLV2_HUMAN				TOP2B,missense_variant,p.Ala668Pro,ENST00000435706,NM_001068.3;TOP2B,missense_variant,p.Ala673Pro,ENST00000264331,;TOP2B,missense_variant,p.Ala668Pro,ENST00000424225,;TOP2B,downstream_gene_variant,,ENST00000491510,;TOP2B,upstream_gene_variant,,ENST00000470132,;							MODERATE	2017/4881	A673P	TOP2B_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000264331					1	
LAMA3	0	LGGM	GRCh37	18	21530028	21530028	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	63	23	.	.	ENST00000313654.9:c.9547G>T	p.Val3183Phe	p.V3183F	ENST00000313654	NM_198129.1	3183	Gtt/Ttt	0	1	1	UPI00001C1222	0	getma.org/pdb.php?prot=LAMA3_HUMAN&from=3157&to=3330&var=V3183F	ENST00000313654		ENSG00000053747	6483		86	1.7		HGNC	p.V1574F		LAMA3		SNV			1				ENST00000269217	protein_coding	getma.org/?cm=var&var=hg19,18,21530028,G,T&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF259,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		V/F		T	low	9788/10661		getma.org/?cm=msa&ty=f&p=LAMA3_HUMAN&rb=3157&re=3330&var=V3183F		B0YJ32_HUMAN			YES	LAMA3,missense_variant,p.Val3183Phe,ENST00000313654,NM_198129.1;LAMA3,missense_variant,p.Val3127Phe,ENST00000399516,NM_001127717.1;LAMA3,missense_variant,p.Val1574Phe,ENST00000269217,NM_000227.3;LAMA3,missense_variant,p.Val1518Phe,ENST00000587184,NM_001127718.1;LAMA3,missense_variant,p.Val24Phe,ENST00000588004,;LAMA3,downstream_gene_variant,,ENST00000590104,;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,;							MODERATE	9547/10002	V3183F	LAMA3_HUMAN			Transcript		benign(0.288)	.	ENSP00000324532		CCDS42419.1			1	
PPM1H	0	LGGM	GRCh37	12	63182084	63182084	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	48	23	.	.	ENST00000228705.6:c.791A>G	p.Asn264Ser	p.N264S	ENST00000228705	NM_020700.1	264	aAt/aGt	0	1	1	UPI00000557DD	0	getma.org/pdb.php?prot=PPM1H_HUMAN&from=223&to=324&var=N264S	ENST00000228705		ENSG00000111110	18583		71	0.38		HGNC	p.N264S		PPM1H		SNV							ENST00000228705	protein_coding	getma.org/?cm=var&var=hg19,12,63182084,T,C&fts=all		hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,Pfam_domain:PF00481,SMART_domains:SM00332,Superfamily_domains:SSF81606		N/S		C	neutral	1092/6353		getma.org/?cm=msa&ty=f&p=PPM1H_HUMAN&rb=223&re=324&var=N264S	tolerated(0.76)				YES	PPM1H,missense_variant,p.Asn264Ser,ENST00000228705,NM_020700.1;PPM1H,non_coding_transcript_exon_variant,,ENST00000551519,;							MODERATE	791/1545	N264S	PPM1H_HUMAN			Transcript		benign(0.016)	.	ENSP00000228705		CCDS44934.1			1	
SP1	0	LGGM	GRCh37	12	53777204	53777204	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	60	23	.	.	ENST00000327443.4:c.1473C>T	p.Ser491=	p.S491=	ENST00000327443	NM_138473.2	491	tcC/tcT	0	1	1	UPI0000135D4E	0		ENST00000327443		ENSG00000185591	11205		83			HGNC	p.S491S		SP1		SNV							ENST00000327443	protein_coding			hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF4		S		T		1571/2846				G5E9M8_HUMAN,Q9NR52_HUMAN,H3BVI2_HUMAN,C4PGM0_HUMAN			YES	SP1,synonymous_variant,p.=,ENST00000426431,NM_003109.1;SP1,synonymous_variant,p.=,ENST00000327443,NM_138473.2,NM_001251825.1;SP1,downstream_gene_variant,,ENST00000548560,;SP1,downstream_gene_variant,,ENST00000551969,;							LOW	1473/2358		SP1_HUMAN			Transcript			.	ENSP00000329357		CCDS8857.1			1	
HK1	0	LGGM	GRCh37	10	71139779	71139779	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	25	.	.	ENST00000404387.2:c.1205G>A	p.Arg402His	p.R402H	ENST00000404387		402	cGt/cAt	0	1		UPI0000111BA5	0	getma.org/pdb.php?prot=HXK1_HUMAN&from=223&to=462&var=R398H	ENST00000359426		ENSG00000156515	4922		56	2.65		HGNC	p.R402H	rs775082107	HK1	6.06E-05	SNV			1				ENST00000404387	protein_coding	getma.org/?cm=var&var=hg19,10,71139779,G,A&fts=all		Superfamily_domains:SSF53067,Pfam_domain:PF03727,Gene3D:3.40.367.20,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF10		R/H		A	medium	1297/3605	3.00E-05	getma.org/?cm=msa&ty=f&p=HXK1_HUMAN&rb=223&re=462&var=R398H	deleterious(0.02)	Q71V75_HUMAN,Q59FD4_HUMAN,B4DG62_HUMAN				HK1,missense_variant,p.Arg433His,ENST00000448642,;HK1,missense_variant,p.Arg386His,ENST00000360289,NM_033498.2,NM_033500.2,NM_033497.2;HK1,missense_variant,p.Arg398His,ENST00000359426,NM_000188.2;HK1,missense_variant,p.Arg397His,ENST00000298649,NM_033496.2;HK1,missense_variant,p.Arg402His,ENST00000404387,;HK1,non_coding_transcript_exon_variant,,ENST00000494253,;HK1,downstream_gene_variant,,ENST00000493591,;							MODERATE	1193/2754	R398H	HXK1_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000352398	2.47E-05	CCDS7292.1			1	
TAF8	0	LGGM	GRCh37	6	42019105	42019105	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	69	25	.	.	ENST00000372977.3:c.56G>T	p.Ser19Ile	p.S19I	ENST00000372977	NM_138572.2	19	aGt/aTt	0	1	1	UPI00001A36D2	0	NA	ENST00000372977		ENSG00000137413	17300		94	0.895		HGNC	p.S19I		TAF8		SNV							ENST00000494547	protein_coding	getma.org/?cm=var&var=hg19,6,42019105,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23307:SF0,hmmpanther:PTHR23307		S/I		T	low	74/6680		getma.org/?cm=msa&ty=f&p=TAF8_HUMAN&rb=1&re=58&var=S19I	deleterious_low_confidence(0.01)				YES	TAF8,missense_variant,p.Ser19Ile,ENST00000372977,NM_138572.2;TAF8,missense_variant,p.Ser19Ile,ENST00000494547,;TAF8,missense_variant,p.Ser19Ile,ENST00000372982,;TAF8,missense_variant,p.Ser19Ile,ENST00000456846,;TAF8,missense_variant,p.Ser19Ile,ENST00000372978,;TAF8,missense_variant,p.Ser19Ile,ENST00000472818,;TAF8,5_prime_UTR_variant,,ENST00000465926,;TAF8,5_prime_UTR_variant,,ENST00000482432,;CCND3,upstream_gene_variant,,ENST00000511642,;CCND3,upstream_gene_variant,,ENST00000372988,NM_001136017.2;CCND3,upstream_gene_variant,,ENST00000415497,NM_001136126.1;CCND3,upstream_gene_variant,,ENST00000510503,;CCND3,upstream_gene_variant,,ENST00000508143,;CCND3,upstream_gene_variant,,ENST00000502771,;CCND3,upstream_gene_variant,,ENST00000514588,;TAF8,non_coding_transcript_exon_variant,,ENST00000482926,;CCND3,upstream_gene_variant,,ENST00000511686,;CCND3,upstream_gene_variant,,ENST00000513956,;CCND3,upstream_gene_variant,,ENST00000514382,;CCND3,upstream_gene_variant,,ENST00000512381,;TAF8,non_coding_transcript_exon_variant,,ENST00000486070,;CCND3,upstream_gene_variant,,ENST00000505672,;CCND3,upstream_gene_variant,,ENST00000505884,;CCND3,upstream_gene_variant,,ENST00000511161,;							MODERATE	56/933	S19I	TAF8_HUMAN			Transcript		benign(0.015)	.	ENSP00000362068		CCDS43462.1			1	
RRAGB	0	LGGM	GRCh37	X	55779876	55779876	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	6	25	.	.	ENST00000262850.7:c.748A>G	p.Met250Val	p.M250V	ENST00000262850	NM_016656.3	250	Atg/Gtg	0	1	1	UPI00001AE856	0	getma.org/pdb.php?prot=RRAGB_HUMAN&from=42&to=296&var=M250V	ENST00000262850		ENSG00000083750	19901		31	0.69		HGNC	p.M250V		RRAGB		SNV							ENST00000262850	protein_coding	getma.org/?cm=var&var=hg19,X,55779876,A,G&fts=all		hmmpanther:PTHR11259:SF4,hmmpanther:PTHR11259,Pfam_domain:PF04670		M/V		G	neutral	1191/1573		getma.org/?cm=msa&ty=f&p=RRAGB_HUMAN&rb=42&re=296&var=M250V	tolerated(0.17)				YES	RRAGB,missense_variant,p.Met222Val,ENST00000374941,NM_006064.4;RRAGB,missense_variant,p.Met250Val,ENST00000262850,NM_016656.3;RRAGB,missense_variant,p.Met184Val,ENST00000414239,;RRAGB,downstream_gene_variant,,ENST00000474757,;RRAGB,upstream_gene_variant,,ENST00000475061,;							MODERATE	748/1125	M250V	RRAGB_HUMAN			Transcript		benign(0.004)	.	ENSP00000262850		CCDS14372.1			1	
RAI1	0	LGGM	GRCh37	17	17697531	17697531	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	62	26	.	.	ENST00000353383.1:c.1269T>A	p.Pro423=	p.P423=	ENST00000353383	NM_030665.3	423	ccT/ccA	0	1	1	UPI0000200AAF	0		ENST00000353383		ENSG00000108557	9834		88			HGNC	p.P423P	rs748834872	RAI1		SNV			1				ENST00000353383	protein_coding			hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6		P		A		1738/7662	3.03E-05			J3QLL5_HUMAN,A8MXE8_HUMAN			YES	RAI1,synonymous_variant,p.=,ENST00000353383,NM_030665.3;RAI1,synonymous_variant,p.=,ENST00000261641,;RAI1,synonymous_variant,p.=,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,;							LOW	1269/5721		RAI1_HUMAN			Transcript			.	ENSP00000323074	1.65E-05	CCDS11188.1			1	
ARMC4	0	LGGM	GRCh37	10	28273113	28273113	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	50	26	.	.	ENST00000305242.5:c.682G>A	p.Asp228Asn	p.D228N	ENST00000305242	NM_018076.2	228	Gat/Aat	0	1	1	UPI00001A95E1	0	NA	ENST00000305242		ENSG00000169126	25583		76	2.36		HGNC	p.D228N		ARMC4		SNV			1				ENST00000305242	protein_coding	getma.org/?cm=var&var=hg19,10,28273113,C,T&fts=all		hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315		D/N		T	medium	775/3572		getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=1&re=309&var=D228N	deleterious(0.01)	R4GN11_HUMAN,A8K906_HUMAN			YES	ARMC4,missense_variant,p.Asp228Asn,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Asp85Asn,ENST00000239715,;ARMC4,missense_variant,p.Asp122Asn,ENST00000434029,;ARMC4,upstream_gene_variant,,ENST00000537576,;ARMC4,upstream_gene_variant,,ENST00000545014,;ARMC4,upstream_gene_variant,,ENST00000480504,;							MODERATE	682/3135	D228N	ARMC4_HUMAN			Transcript		benign(0.078)	.	ENSP00000306410		CCDS7157.1			1	
OR5L2	0	LGGM	GRCh37	11	55595176	55595176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	66	26	.	.	ENST00000378397.1:c.482C>T	p.Ser161Phe	p.S161F	ENST00000378397	NM_001004739.1	161	tCc/tTc	0	1	1	UPI0000041C49	0	NA	ENST00000378397		ENSG00000205030	8351		92	1.115		HGNC	p.S161F		OR5L2		SNV							ENST00000378397	protein_coding	getma.org/?cm=var&var=hg19,11,55595176,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/F		T	low	482/936		getma.org/?cm=msa&ty=f&p=OR5L2_HUMAN&rb=139&re=283&var=S161F	deleterious(0.03)				YES	OR5L2,missense_variant,p.Ser161Phe,ENST00000378397,NM_001004739.1;							MODERATE	482/936	S161F	OR5L2_HUMAN			Transcript		benign(0.226)	.	ENSP00000367650		CCDS31511.1			1	
GRIA2	0	LGGM	GRCh37	4	158284023	158284023	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	30	27	.	.	ENST00000296526.7:c.2479G>A	p.Ala827Thr	p.A827T	ENST00000296526	NM_000826.3	827	Gca/Aca	0	1		UPI000012B7C2	0	NA	ENST00000264426		ENSG00000120251	4572		57	2.705		HGNC	p.A827T		GRIA2		SNV							ENST00000296526	protein_coding	getma.org/?cm=var&var=hg19,4,158284023,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Prints_domain:PR00177		A/T		A	medium	2758/3445		getma.org/?cm=msa&ty=f&p=GRIA2_HUMAN&rb=825&re=883&var=A827T	deleterious(0)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				GRIA2,missense_variant,p.Ala827Thr,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Ala780Thr,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Ala780Thr,ENST00000449365,;GRIA2,missense_variant,p.Ala827Thr,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Ala780Thr,ENST00000507898,;GRIA2,missense_variant,p.Ala158Thr,ENST00000510854,;AC079233.1,downstream_gene_variant,,ENST00000578227,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;GRIA2,non_coding_transcript_exon_variant,,ENST00000503980,;GRIA2,downstream_gene_variant,,ENST00000323661,;							MODERATE	2479/2652	A827T	GRIA2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264426		CCDS43274.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121608063	121608063	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	67	27	.	.	ENST00000393386.2:c.183A>T	p.Gln61His	p.Q61H	ENST00000393386	NM_001206838.1	61	caA/caT	0	1	1	UPI000020F9BB	0	getma.org/pdb.php?prot=PTPRZ_HUMAN&from=38&to=300&var=Q61H	ENST00000393386		ENSG00000106278	9685		94	3.435		HGNC	p.Q61H		PTPRZ1		SNV							ENST00000393386	protein_coding	getma.org/?cm=var&var=hg19,7,121608063,A,T&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		Q/H		T	medium	594/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=38&re=300&var=Q61H	deleterious(0)				YES	PTPRZ1,missense_variant,p.Gln61His,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.Gln61His,ENST00000449182,NM_001206839.1;PTPRZ1,downstream_gene_variant,,ENST00000471837,;							MODERATE	183/6948	Q61H	PTPRZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377047		CCDS34740.1			1	
C1S	0	LGGM	GRCh37	12	7173140	7173140	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	87	27	.	.	ENST00000406697.1:c.737A>G	p.Gln246Arg	p.Q246R	ENST00000406697		246	cAa/cGa	0	1		UPI0000126BF6	0	getma.org/pdb.php?prot=C1S_HUMAN&from=175&to=287&var=Q246R	ENST00000328916		ENSG00000182326	1247	8.64E-05	114	0.02		HGNC	p.Q246R	rs782224555	C1S		SNV			1				ENST00000406697	protein_coding	getma.org/?cm=var&var=hg19,12,7173140,A,G&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS01180,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF24,SMART_domains:SM00042,Superfamily_domains:SSF49854		Q/R		G	neutral	1261/2972		getma.org/?cm=msa&ty=f&p=C1S_HUMAN&rb=175&re=287&var=Q246R	tolerated(0.58)	F8WCZ6_HUMAN,F5H7T4_HUMAN,C9JY52_HUMAN,C9IZP8_HUMAN,B5MCV4_HUMAN				C1S,missense_variant,p.Gln246Arg,ENST00000406697,;C1S,missense_variant,p.Gln246Arg,ENST00000328916,NM_201442.2;C1S,missense_variant,p.Gln246Arg,ENST00000360817,NM_001734.3;C1S,missense_variant,p.Gln79Arg,ENST00000402681,;C1S,missense_variant,p.Gln79Arg,ENST00000542978,;C1S,downstream_gene_variant,,ENST00000403949,;C1S,downstream_gene_variant,,ENST00000413211,;C1S,downstream_gene_variant,,ENST00000423384,;C1S,upstream_gene_variant,,ENST00000495061,;C1S,downstream_gene_variant,,ENST00000541647,;C1S,downstream_gene_variant,,ENST00000543187,;C1S,missense_variant,p.Gln271Arg,ENST00000443875,;C1S,non_coding_transcript_exon_variant,,ENST00000495053,;C1S,non_coding_transcript_exon_variant,,ENST00000473545,;C1S,upstream_gene_variant,,ENST00000461983,;C1S,downstream_gene_variant,,ENST00000488701,;C1S,downstream_gene_variant,,ENST00000489541,;C1S,upstream_gene_variant,,ENST00000470326,;C1S,downstream_gene_variant,,ENST00000463798,;C1S,upstream_gene_variant,,ENST00000497061,;							MODERATE	737/2067	Q246R	C1S_HUMAN			Transcript		benign(0.013)	.	ENSP00000328173	8.24E-06	CCDS31735.1			1	
CDCA3	0	LGGM	GRCh37	12	6959730	6959730	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	88	27	.	.	ENST00000538862.2:c.151G>A	p.Ala51Thr	p.A51T	ENST00000538862		51	Gca/Aca	0	1		UPI000006F098	0	NA	ENST00000535406		ENSG00000111665	14624		115	1.23		HGNC	p.A51T	rs782668155	CDCA3		SNV							ENST00000229265	protein_coding	getma.org/?cm=var&var=hg19,12,6959730,C,T&fts=all				A/T		T	low	457/1327		getma.org/?cm=msa&ty=f&p=CDCA3_HUMAN&rb=1&re=266&var=A51T	tolerated(0.36)	F5GX58_HUMAN				CDCA3,missense_variant,p.Ala51Thr,ENST00000422785,;CDCA3,missense_variant,p.Ala51Thr,ENST00000538862,;CDCA3,missense_variant,p.Ala51Thr,ENST00000535406,;CDCA3,missense_variant,p.Ala51Thr,ENST00000229265,NM_031299.4;CDCA3,missense_variant,p.Ala51Thr,ENST00000540683,;USP5,upstream_gene_variant,,ENST00000229268,NM_001098536.1;USP5,upstream_gene_variant,,ENST00000389231,NM_003481.2;GNB3,downstream_gene_variant,,ENST00000229264,NM_002075.2;GNB3,downstream_gene_variant,,ENST00000435982,;GNB3,downstream_gene_variant,,ENST00000537035,;USP5,upstream_gene_variant,,ENST00000542087,;CDCA3,non_coding_transcript_exon_variant,,ENST00000545368,;CDCA3,upstream_gene_variant,,ENST00000604599,;CDCA3,upstream_gene_variant,,ENST00000603043,;CDCA3,upstream_gene_variant,,ENST00000544610,;CDCA3,upstream_gene_variant,,ENST00000535871,;CDCA3,non_coding_transcript_exon_variant,,ENST00000536241,;CDCA3,non_coding_transcript_exon_variant,,ENST00000446553,;GNB3,downstream_gene_variant,,ENST00000540458,;GNB3,downstream_gene_variant,,ENST00000542751,;							MODERATE	151/807	A51T	CDCA3_HUMAN	0.000302		Transcript		benign(0.02)	.	ENSP00000446339	1.65E-05	CCDS8565.1			1	
EPYC	0	LGGM	GRCh37	12	91366686	91366686	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	60	29	.	.	ENST00000261172.3:c.412A>G	p.Ile138Val	p.I138V	ENST00000261172	NM_004950.4	138	Att/Gtt	0	1	1	UPI000013D136	0	NA	ENST00000261172		ENSG00000083782	3053		89	-0.275		HGNC	p.I138V		EPYC		SNV							ENST00000551767	protein_coding	getma.org/?cm=var&var=hg19,12,91366686,T,C&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF01462,hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF4,SMART_domains:SM00013,Superfamily_domains:SSF52058		I/V		C	neutral	505/1539		getma.org/?cm=msa&ty=f&p=EPYC_HUMAN&rb=98&re=162&var=I138V	tolerated(0.69)	F8VSI4_HUMAN			YES	EPYC,missense_variant,p.Ile138Val,ENST00000261172,NM_004950.4;EPYC,missense_variant,p.Ile138Val,ENST00000551767,;EPYC,non_coding_transcript_exon_variant,,ENST00000550203,;							MODERATE	412/969	I138V	EPYC_HUMAN			Transcript		benign(0.055)	.	ENSP00000261172		CCDS31870.1			1	
CPD	0	LGGM	GRCh37	17	28776626	28776626	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	68	29	.	.	ENST00000225719.4:c.2929C>A	p.Pro977Thr	p.P977T	ENST00000225719	NM_001304.4	977	Ccc/Acc	0	1	1	UPI000000DAF7	0	getma.org/pdb.php?prot=CBPD_HUMAN&from=939&to=1203&var=P977T	ENST00000225719		ENSG00000108582	2301		97	2.775		HGNC	p.P730T		CPD		SNV							ENST00000543464	protein_coding	getma.org/?cm=var&var=hg19,17,28776626,C,A&fts=all		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF40,SMART_domains:SM00631,Superfamily_domains:SSF53187		P/T		A	medium	3005/9394		getma.org/?cm=msa&ty=f&p=CBPD_HUMAN&rb=939&re=1203&var=P977T	deleterious(0)				YES	CPD,missense_variant,p.Pro977Thr,ENST00000225719,NM_001304.4;CPD,missense_variant,p.Pro730Thr,ENST00000543464,NM_001199775.1;CPD,intron_variant,,ENST00000584221,;CPD,intron_variant,,ENST00000588977,;CPD,upstream_gene_variant,,ENST00000584051,;CPD,upstream_gene_variant,,ENST00000580396,;CPD,upstream_gene_variant,,ENST00000579502,;CPD,upstream_gene_variant,,ENST00000584050,;							MODERATE	2929/4143	P977T	CBPD_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000225719		CCDS11257.1			1	
UBR4	0	LGGM	GRCh37	1	19441356	19441356	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	87	31	.	.	ENST00000375254.3:c.11151C>A	p.Ala3717=	p.A3717=	ENST00000375254	NM_020765.2	3717	gcC/gcA	0	1	1	UPI000021276F	0		ENST00000375254		ENSG00000127481	30313		118			HGNC	p.A3717A		UBR4		SNV							ENST00000375267	protein_coding			hmmpanther:PTHR21725		A		T		11179/15906				Q96HY5_HUMAN			YES	UBR4,synonymous_variant,p.=,ENST00000375267,;UBR4,synonymous_variant,p.=,ENST00000375254,NM_020765.2;UBR4,synonymous_variant,p.=,ENST00000375217,;UBR4,synonymous_variant,p.=,ENST00000375226,;UBR4,synonymous_variant,p.=,ENST00000375218,;UBR4,upstream_gene_variant,,ENST00000494503,;UBR4,upstream_gene_variant,,ENST00000466969,;							LOW	11151/15552		UBR4_HUMAN			Transcript			.	ENSP00000364403		CCDS189.1			1	
KIF2A	0	LGGM	GRCh37	5	61668294	61668294	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	63	32	.	.	ENST00000407818.3:c.1676A>G	p.Asp559Gly	p.D559G	ENST00000407818	NM_001098511.2	559	gAc/gGc	0	1		UPI000020C7FA	0	NA	ENST00000401507		ENSG00000068796	6318		95	0		HGNC	p.D559G		KIF2A		SNV			1				ENST00000407818	protein_coding	getma.org/?cm=var&var=hg19,5,61668294,A,G&fts=all						G	neutral	-/2539		getma.org/?cm=msa&ty=f&p=B4DM85_HUMAN&rb=554&re=623&var=D559G		D6RD93_HUMAN				KIF2A,missense_variant,p.Asp559Gly,ENST00000407818,NM_001098511.2;KIF2A,intron_variant,,ENST00000381103,NM_001243952.1;KIF2A,intron_variant,,ENST00000401507,NM_004520.4,NM_001243953.1;KIF2A,intron_variant,,ENST00000506857,;KIF2A,intron_variant,,ENST00000512006,;KIF2A,intron_variant,,ENST00000509663,;							MODIFIER	-/2121	D559G	KIF2A_HUMAN			Transcript			.	ENSP00000385622		CCDS3980.2			1	
ABCC11	0	LGGM	GRCh37	16	48250176	48250176	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	51	33	.	.	ENST00000394747.1:c.800A>T	p.Asp267Val	p.D267V	ENST00000394747	NM_033151.3	267	gAt/gTt	0	1		UPI0000052711	0	NA	ENST00000356608		ENSG00000121270	14639		84	2.495		HGNC	p.D267V		ABCC11		SNV			1				ENST00000394748	protein_coding	getma.org/?cm=var&var=hg19,16,48250176,T,A&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168,Superfamily_domains:SSF90123		D/V		A	medium	899/4612		getma.org/?cm=msa&ty=f&p=ABCCB_HUMAN&rb=163&re=431&var=D267V	deleterious(0.02)	H3BRJ2_HUMAN				ABCC11,missense_variant,p.Asp267Val,ENST00000394747,NM_033151.3;ABCC11,missense_variant,p.Asp267Val,ENST00000356608,;ABCC11,missense_variant,p.Asp267Val,ENST00000394748,NM_032583.3;ABCC11,missense_variant,p.Asp267Val,ENST00000353782,NM_145186.2;ABCC11,missense_variant,p.Asp267Val,ENST00000537808,;ABCC11,non_coding_transcript_exon_variant,,ENST00000565487,;ABCC11,non_coding_transcript_exon_variant,,ENST00000567385,;							MODERATE	800/4149	D267V	ABCCB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349017		CCDS10732.1			1	
BMS1	0	LGGM	GRCh37	10	43280976	43280976	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	67	35	.	.	ENST00000374518.5:c.223C>T	p.Arg75Ter	p.R75*	ENST00000374518	NM_014753.3	75	Cga/Tga	0	1	1	UPI0000126A3E	0	NA	ENST00000374518		ENSG00000165733	23505		102	0		HGNC	p.R75X		BMS1		SNV			1				ENST00000374518	protein_coding	getma.org/?cm=var&var=hg19,10,43280976,C,T&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR12858:SF2,hmmpanther:PTHR12858		R/*		T	NA	286/7753		NA					YES	BMS1,stop_gained,p.Arg75Ter,ENST00000374518,NM_014753.3;							HIGH	223/3849	R75*	BMS1_HUMAN			Transcript			.	ENSP00000363642		CCDS7199.1			1	
NFAT5	0	LGGM	GRCh37	16	69727077	69727077	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104044	H104044N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	41	36	.	.	ENST00000432919.1:c.3349A>G	p.Ile1117Val	p.I1117V	ENST00000432919	NM_138713.3	1117	Att/Gtt	0	1		UPI000012FFE8	0	NA	ENST00000354436		ENSG00000102908	7774	8.64E-05	77	1.905		HGNC	p.I1117V	rs746229892	NFAT5		SNV							ENST00000432919	protein_coding	getma.org/?cm=var&var=hg19,16,69727077,A,G&fts=all		hmmpanther:PTHR12533,hmmpanther:PTHR12533:SF7		I/V		G	medium	3613/13229	4.51E-05	getma.org/?cm=msa&ty=f&p=NFAT5_HUMAN&rb=548&re=1529&var=I1099V	tolerated_low_confidence(0.3)					NFAT5,missense_variant,p.Ile1023Val,ENST00000349945,NM_138714.3;NFAT5,missense_variant,p.Ile1117Val,ENST00000432919,NM_138713.3,NM_001113178.2;NFAT5,missense_variant,p.Ile1099Val,ENST00000354436,NM_006599.3;NFAT5,missense_variant,p.Ile1023Val,ENST00000393742,NM_173214.2;NFAT5,missense_variant,p.Ile1116Val,ENST00000567239,;NFAT5,missense_variant,p.Ile1023Val,ENST00000566899,NM_173215.2;NFAT5,intron_variant,,ENST00000565301,;NFAT5,3_prime_UTR_variant,,ENST00000426654,;NFAT5,downstream_gene_variant,,ENST00000568832,;NFAT5,downstream_gene_variant,,ENST00000562429,;							MODERATE	3295/4596	I1099V	NFAT5_HUMAN			Transcript		benign(0.164)	.	ENSP00000346420	3.29E-05	CCDS10881.1			1	
ACAN	0	LGGM	GRCh37	15	89400856	89400856	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	69	37	.	.	ENST00000439576.2:c.5040G>T	p.Gly1680=	p.G1680=	ENST00000439576	NM_013227.3	1680	ggG/ggT	0	1	1	UPI0001B23381	0		ENST00000439576		ENSG00000157766	319		106			HGNC	p.G1680G		ACAN		SNV			1				ENST00000559004	protein_coding			hmmpanther:PTHR22804,hmmpanther:PTHR22804:SF42		G		T		5414/8840				Q6LE94_HUMAN,E7EX88_HUMAN			YES	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,upstream_gene_variant,,ENST00000560601,;							LOW	5040/7593					Transcript			.	ENSP00000387356		CCDS53970.1			1	
SCRG1	0	LGGM	GRCh37	4	174312372	174312372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	31	48	.	.	ENST00000296506.3:c.194G>A	p.Cys65Tyr	p.C65Y	ENST00000296506	NM_007281.2	65	tGt/tAt	0	1	1	UPI0000031569	0		ENST00000296506		ENSG00000164106	17036		79			HGNC	p.C65Y		SCRG1		SNV							ENST00000512188	protein_coding			Pfam_domain:PF15224,hmmpanther:PTHR17463		C/Y		T		677/4420			deleterious(0)	Q6FGG5_HUMAN			YES	SCRG1,missense_variant,p.Cys65Tyr,ENST00000296506,NM_007281.2;SCRG1,missense_variant,p.Cys65Tyr,ENST00000512188,;							MODERATE	194/297		SCRG1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000296506		CCDS3818.1			1	
FREM3	0	LGGM	GRCh37	4	144619002	144619002	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	34	49	.	.	ENST00000329798.5:c.2827C>A	p.Pro943Thr	p.P943T	ENST00000329798	NM_001168235.1	943	Cct/Act	0	1	1	UPI0000D615C2	0	NA	ENST00000329798		ENSG00000183090	25172		83	2.945		HGNC	p.P943T		FREM3		SNV							ENST00000329798	protein_coding	getma.org/?cm=var&var=hg19,4,144619002,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF30		P/T		T	medium	2827/6729		getma.org/?cm=msa&ty=f&p=FREM3_HUMAN&rb=801&re=1000&var=P943T	deleterious(0.01)				YES	FREM3,missense_variant,p.Pro943Thr,ENST00000329798,NM_001168235.1;RP13-578N3.3,upstream_gene_variant,,ENST00000499587,;							MODERATE	2827/6420	P943T	FREM3_HUMAN			Transcript		possibly_damaging(0.583)	.	ENSP00000332886		CCDS54808.1			1	
SLC4A4	0	LGGM	GRCh37	4	72420902	72420902	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104044	H104044N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	69	51	.	.	ENST00000425175.1:c.2740G>A	p.Val914Ile	p.V914I	ENST00000425175	NM_001134742.1	914	Gta/Ata	0	1		UPI000006DF04	0	NA	ENST00000264485		ENSG00000080493	11030		120	1.205		HGNC	p.V830I		SLC4A4		SNV			1				ENST00000351898	protein_coding	getma.org/?cm=var&var=hg19,4,72420902,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF10,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955		V/I		A	low	2857/5323		getma.org/?cm=msa&ty=f&p=S4A4_HUMAN&rb=435&re=956&var=V914I	tolerated(0.1)					SLC4A4,missense_variant,p.Val870Ile,ENST00000340595,NM_003759.3;SLC4A4,missense_variant,p.Val914Ile,ENST00000425175,NM_001134742.1;SLC4A4,missense_variant,p.Val914Ile,ENST00000264485,NM_001098484.2;SLC4A4,missense_variant,p.Val830Ile,ENST00000351898,;							MODERATE	2740/3240	V914I	S4A4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000264485		CCDS43236.1			1	
SMARCC1	0	LGGM	GRCh37	3	47677511	47677511	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H104044	H104044N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	138	69	.	.	ENST00000254480.5:c.2491+1G>T		p.X831_splice	ENST00000254480	NM_003074.3			0	1	1	UPI000013CE3B	0		ENST00000254480		ENSG00000173473	11104		207			HGNC	-		SMARCC1		SNV							ENST00000254480	protein_coding							A		-/6375				F8WE13_HUMAN			YES	SMARCC1,splice_donor_variant,,ENST00000254480,NM_003074.3;SMARCC1,splice_donor_variant,,ENST00000425518,;							HIGH	2491/3318		SMRC1_HUMAN			Transcript			.	ENSP00000254480		CCDS2758.1			1	
PIP5K1A	0	LGGM	GRCh37	1	151199808	151199808	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104044	H104044N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104044N.bam, H104044T.bam	Illumina HiSeq	37	152	.	.	ENST00000368888.4:c.169T>A	p.Ser57Thr	p.S57T	ENST00000368888	NM_001135638.1	57	Tct/Act	0	1	1	UPI000006F821	0	NA	ENST00000368888		ENSG00000143398	8994		189	1.225		HGNC	p.S44T		PIP5K1A		SNV							ENST00000368890	protein_coding	getma.org/?cm=var&var=hg19,1,151199808,T,A&fts=all		hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF16		S/T		A	low	591/2134		getma.org/?cm=msa&ty=f&p=PI51A_HUMAN&rb=1&re=162&var=S57T	tolerated_low_confidence(0.25)	P78517_HUMAN,A6PW58_HUMAN			YES	PIP5K1A,missense_variant,p.Ser44Thr,ENST00000349792,NM_003557.2;PIP5K1A,missense_variant,p.Ser45Thr,ENST00000409426,;PIP5K1A,missense_variant,p.Ser44Thr,ENST00000368890,NM_001135637.1;PIP5K1A,missense_variant,p.Ser45Thr,ENST00000441902,NM_001135636.1;PIP5K1A,missense_variant,p.Ser57Thr,ENST00000368888,NM_001135638.1;PIP5K1A,missense_variant,p.Ser49Thr,ENST00000447555,;PIP5K1A,missense_variant,p.Ser21Thr,ENST00000418435,;PIP5K1A,upstream_gene_variant,,ENST00000486048,;PIP5K1A,3_prime_UTR_variant,,ENST00000454769,;PIP5K1A,non_coding_transcript_exon_variant,,ENST00000468772,;PIP5K1A,non_coding_transcript_exon_variant,,ENST00000481713,;PIP5K1A,non_coding_transcript_exon_variant,,ENST00000461816,;							MODERATE	169/1689	S57T	PI51A_HUMAN			Transcript		benign(0.007)	.	ENSP00000357883		CCDS44219.1			1	
ROBO3	0	LGGM	GRCh37	11	124738916	124738916	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	4	2	.	.	ENST00000397801.1:c.379C>A	p.Arg127Ser	p.R127S	ENST00000397801	NM_022370.3	127	Cgc/Agc	0	1	1	UPI000035AA82	0	getma.org/pdb.php?prot=ROBO3_HUMAN&from=63&to=163&var=R127S	ENST00000397801		ENSG00000154134	13433		6	0.895		HGNC	p.R105S		ROBO3		SNV			1				ENST00000538940	protein_coding	getma.org/?cm=var&var=hg19,11,124738916,C,A&fts=all		Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF92,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/S		A	low	571/4569		getma.org/?cm=msa&ty=f&p=ROBO3_HUMAN&rb=63&re=163&var=R127S	deleterious(0.01)	Q9H7C7_HUMAN,Q96HH0_HUMAN,F5H0K7_HUMAN			YES	ROBO3,missense_variant,p.Arg127Ser,ENST00000397801,NM_022370.3;ROBO3,missense_variant,p.Arg105Ser,ENST00000538940,;							MODERATE	379/4161	R127S	ROBO3_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000380903		CCDS44755.1			1	
COL7A1	0	LGGM	GRCh37	3	48625314	48625314	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	3	2	.	.	ENST00000328333.8:c.2769G>A	p.Gly923=	p.G923=	ENST00000328333	NM_000094.3	923	ggG/ggA	0	1	1	UPI0000126D20	0		ENST00000328333		ENSG00000114270	2214		5			HGNC	p.G923G	rs748086542	COL7A1	0.000145	SNV			1				ENST00000328333	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265		G		T		2877/9276							YES	COL7A1,synonymous_variant,p.=,ENST00000328333,NM_000094.3;COL7A1,synonymous_variant,p.=,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000487017,;	0.000158						LOW	2769/8835		CO7A1_HUMAN			Transcript			.	ENSP00000332371	2.47E-05	CCDS2773.1			1	
CDH23	0	LGGM	GRCh37	10	73466692	73466692	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	4	2	.	.				ENST00000441508	NM_001164375.2			0	1		UPI0002B831D5	0	getma.org/pdb.php?prot=CAD23_HUMAN&from=996&to=1102&var=A998T	ENST00000224721		ENSG00000107736	13733		6	0.3		HGNC	p.A1001T		CDH23		SNV			1				ENST00000299366	protein_coding	getma.org/?cm=var&var=hg19,10,73466692,G,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF277,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		A/T		A	neutral	3012/10085		getma.org/?cm=msa&ty=f&p=CAD23_HUMAN&rb=996&re=1102&var=A998T	tolerated(0.5)					CDH23,missense_variant,p.Ala1003Thr,ENST00000224721,NM_022124.5;CDH23,missense_variant,p.Ala590Thr,ENST00000442677,;CDH23,missense_variant,p.Ala809Thr,ENST00000466757,;CDH23,missense_variant,p.Ala1043Thr,ENST00000299366,NM_001171931.1;C10orf105,downstream_gene_variant,,ENST00000441508,NM_001164375.2;C10orf105,downstream_gene_variant,,ENST00000398786,NM_001168390.1;							MODERATE	3007/10080	A998T				Transcript		probably_damaging(0.987)	.	ENSP00000224721					1	
BDP1	0	LGGM	GRCh37	5	70800459	70800459	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	16	2	.	.	ENST00000358731.4:c.2253C>A	p.His751Gln	p.H751Q	ENST00000358731	NM_018429.2	751	caC/caA	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		18	-1.155		HGNC	p.H751Q		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70800459,C,A&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		H/Q		A	neutral	2516/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=H751Q	tolerated(1)				YES	BDP1,missense_variant,p.His751Gln,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;BDP1,non_coding_transcript_exon_variant,,ENST00000508157,;							MODERATE	2253/7875	H751Q	BDP1_HUMAN			Transcript		benign(0)	.	ENSP00000351575		CCDS43328.1			1	
ZNF24	0	LGGM	GRCh37	18	32919826	32919826	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	36	3	.	.	ENST00000261332.6:c.535G>A	p.Ala179Thr	p.A179T	ENST00000261332	NM_006965.2	179	Gca/Aca	0	1	1	UPI000013D166	0	NA	ENST00000261332		ENSG00000172466	13032		39	1.24		HGNC	p.A179T		ZNF24		SNV							ENST00000589881	protein_coding	getma.org/?cm=var&var=hg19,18,32919826,C,T&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF20		A/T		T	low	715/6307		getma.org/?cm=msa&ty=f&p=ZNF24_HUMAN&rb=142&re=264&var=A179T	tolerated(0.5)	K7EQP8_HUMAN,K7EPZ8_HUMAN,K7EPL1_HUMAN			YES	ZNF24,missense_variant,p.Ala179Thr,ENST00000589881,;ZNF24,missense_variant,p.Ala179Thr,ENST00000261332,NM_006965.2;ZNF24,missense_variant,p.Ala179Thr,ENST00000399061,;ZNF24,downstream_gene_variant,,ENST00000590140,;ZNF24,downstream_gene_variant,,ENST00000589539,;ZNF24,downstream_gene_variant,,ENST00000593130,;							MODERATE	535/1107	A179T	ZNF24_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000261332		CCDS11912.1			1	
SOHLH1	0	LGGM	GRCh37	9	138588542	138588542	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	5	3	.	.	ENST00000425225.1:c.577G>A	p.Ala193Thr	p.A193T	ENST00000425225	NM_001101677.1	193	Gcg/Acg	0	1		UPI00001C1EC4	0	NA	ENST00000298466		ENSG00000165643	27845		8	0		HGNC	p.A193T	rs778873470,COSM39549	SOHLH1		SNV			1			0,1	ENST00000425225	protein_coding	getma.org/?cm=var&var=hg19,9,138588542,C,T&fts=all		hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF14		A/T		T	neutral	638/1987	1.55E-05	getma.org/?cm=msa&ty=f&p=SOLH1_HUMAN&rb=104&re=303&var=A193T	tolerated(0.38)					SOHLH1,missense_variant,p.Ala193Thr,ENST00000298466,NM_001012415.2;SOHLH1,missense_variant,p.Ala193Thr,ENST00000425225,NM_001101677.1;					0,1		MODERATE	577/987	A193T	SOLH1_HUMAN			Transcript		benign(0.007)	.	ENSP00000298466	8.26E-06	CCDS35174.1			1	
NBPF14	0	LGGM	GRCh37	1	148011047	148011047	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	20	3	.	.	ENST00000310701.10:c.1592G>A	p.Arg531=	p.R531=	ENST00000310701		531	agG/agA	0	1	1	UPI000059D042	0		ENST00000310701		ENSG00000122497	25232		23			HGNC	p.R525R	rs782497162	NBPF14		SNV							ENST00000369219	protein_coding			Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		R		T		1592/3689	0.000457			S4R3H5_HUMAN,H7BZX4_HUMAN,H7BYX2_HUMAN			YES	NBPF14,synonymous_variant,p.=,ENST00000310701,;NBPF14,synonymous_variant,p.=,ENST00000369219,;NBPF14,intron_variant,,ENST00000448574,;NBPF14,intron_variant,,ENST00000458135,;NBPF14,intron_variant,,ENST00000392972,;NBPF14,intron_variant,,ENST00000444640,;NBPF14,intron_variant,,ENST00000431121,;NBPF14,intron_variant,,ENST00000436356,;NBPF14,downstream_gene_variant,,ENST00000426874,;							LOW	1593/2784					Transcript			common_variant	ENSP00000309907	1.39E-05				1	
SPATC1	0	LGGM	GRCh37	8	145095154	145095154	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	41	3	.	.	ENST00000377470.3:c.556C>A	p.Pro186Thr	p.P186T	ENST00000377470	NM_198572.2	186	Cct/Act	0	1	1	UPI00001D8243	0	NA	ENST00000377470		ENSG00000186583	30510		44	1.935		HGNC	p.P186T		SPATC1		SNV							ENST00000377470	protein_coding	getma.org/?cm=var&var=hg19,8,145095154,C,A&fts=all		hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16,Pfam_domain:PF15058		P/T		A	medium	658/1954		getma.org/?cm=msa&ty=f&p=SPERI_HUMAN&rb=1&re=590&var=P186T	deleterious(0)				YES	SPATC1,missense_variant,p.Pro186Thr,ENST00000377470,NM_198572.2;SPATC1,missense_variant,p.Pro186Thr,ENST00000447830,NM_001134374.1;							MODERATE	556/1776	P186T	SPERI_HUMAN			Transcript		possibly_damaging(0.73)	.	ENSP00000366690		CCDS6413.2			1	
LTN1	0	LGGM	GRCh37	21	30353583	30353583	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	8	3	.	.	ENST00000389194.2:c.806G>T	p.Arg269Leu	p.R269L	ENST00000389194	NM_015565.2	269	cGg/cTg	0	1		UPI00001A95E0	0	NA	ENST00000361371		ENSG00000198862	13082		11	1.47		HGNC	p.R223L		LTN1		SNV							ENST00000361371	protein_coding	getma.org/?cm=var&var=hg19,21,30353583,C,A&fts=all		hmmpanther:PTHR12389,Superfamily_domains:SSF48371		R/L		A	low	748/7685		getma.org/?cm=msa&ty=f&p=LTN1_HUMAN&rb=201&re=400&var=R223L	deleterious(0)	G1UI34_HUMAN				LTN1,missense_variant,p.Arg269Leu,ENST00000389194,NM_015565.2;LTN1,missense_variant,p.Arg223Leu,ENST00000361371,;LTN1,missense_variant,p.Arg269Leu,ENST00000389195,;LTN1,missense_variant,p.Arg152Leu,ENST00000483326,;							MODERATE	668/5301	R223L	LTN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354977					1	
COPS2	0	LGGM	GRCh37	15	49426537	49426537	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	23	3	.	.	ENST00000299259.6:c.736G>A	p.Glu246Lys	p.E246K	ENST00000299259		246	Gaa/Aaa	0	1		UPI000000167F	0	getma.org/pdb.php?prot=CSN2_HUMAN&from=201&to=308&var=E239K	ENST00000388901		ENSG00000166200	30747		26	2.585		HGNC	p.E175K		COPS2		SNV							ENST00000542928	protein_coding	getma.org/?cm=var&var=hg19,15,49426537,C,T&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR10678,SMART_domains:SM00753,Superfamily_domains:SSF48452		E/K		T	medium	789/4061		getma.org/?cm=msa&ty=f&p=CSN2_HUMAN&rb=201&re=308&var=E239K	deleterious(0)	H0YKU5_HUMAN				COPS2,missense_variant,p.Glu239Lys,ENST00000388901,NM_001143887.1,NM_004236.3;COPS2,missense_variant,p.Glu246Lys,ENST00000299259,;COPS2,missense_variant,p.Glu175Lys,ENST00000542928,;COPS2,missense_variant,p.Glu239Lys,ENST00000558843,;COPS2,missense_variant,p.Glu175Lys,ENST00000561248,;Y_RNA,downstream_gene_variant,,ENST00000363250,;COPS2,non_coding_transcript_exon_variant,,ENST00000559016,;COPS2,downstream_gene_variant,,ENST00000558545,;COPS2,upstream_gene_variant,,ENST00000560240,;							MODERATE	715/1332	E239K	CSN2_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000373553		CCDS32235.1			1	
YLPM1	0	LGGM	GRCh37	14	75230676	75230676	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	18	3	.	.	ENST00000325680.7:c.484C>T	p.Gln162Ter	p.Q162*	ENST00000325680	NM_019589.2	162	Cag/Tag	0	1	1	UPI00006C1433	0	NA	ENST00000325680		ENSG00000119596	17798		21	0		HGNC	p.Q162X		YLPM1		SNV							ENST00000238571	protein_coding	getma.org/?cm=var&var=hg19,14,75230676,C,T&fts=all		hmmpanther:PTHR13413,hmmpanther:PTHR13413:SF0,Low_complexity_(Seg):seg		Q/*		T	NA	608/7017		NA		B4DMQ9_HUMAN			YES	YLPM1,stop_gained,p.Gln162Ter,ENST00000325680,NM_019589.2;YLPM1,stop_gained,p.Gln162Ter,ENST00000238571,;YLPM1,stop_gained,p.Gln162Ter,ENST00000552421,;							HIGH	484/6441	Q162*	YLPM1_HUMAN			Transcript			.	ENSP00000324463		CCDS45135.1			1	
IGFL1	0	LGGM	GRCh37	19	46733056	46733056	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	16	4	.	.	ENST00000437936.1:c.25G>T	p.Ala9Ser	p.A9S	ENST00000437936	NM_198541.1	9	Gct/Tct	0	1	1	UPI000003C715	0	NA	ENST00000437936		ENSG00000188293	24093		20	1.78		HGNC	p.A9S		IGFL1		SNV							ENST00000437936	protein_coding	getma.org/?cm=var&var=hg19,19,46733056,G,T&fts=all		Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM		A/S		T	low	48/769		getma.org/?cm=msa&ty=f&p=IGFL1_HUMAN&rb=1&re=105&var=A9S	tolerated(0.12)				YES	IGFL1,missense_variant,p.Ala9Ser,ENST00000437936,NM_198541.1;AC006262.10,intron_variant,,ENST00000597337,;							MODERATE	25/333	A9S	IGFL1_HUMAN			Transcript		possibly_damaging(0.847)	.	ENSP00000415823		CCDS46123.1			1	
TECPR2	0	LGGM	GRCh37	14	102843205	102843205	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	14	4	.	.	ENST00000359520.7:c.147G>A	p.Ala49=	p.A49=	ENST00000359520	NM_014844.3	49	gcG/gcA	0	1	1	UPI00001FDC38	0		ENST00000359520		ENSG00000196663	19957		18			HGNC	p.A49A		TECPR2		SNV			1				ENST00000558678	protein_coding			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287		A		A		373/8686							YES	TECPR2,synonymous_variant,p.=,ENST00000359520,NM_014844.3;TECPR2,synonymous_variant,p.=,ENST00000558678,NM_001172631.1;TECPR2,non_coding_transcript_exon_variant,,ENST00000561228,;							LOW	147/4236		TCPR2_HUMAN			Transcript			.	ENSP00000352510		CCDS32162.1			1	
KIAA1244	0	LGGM	GRCh37	6	138655985	138655985	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	28	4	.	.	ENST00000251691.4:c.6002G>A	p.Arg2001Gln	p.R2001Q	ENST00000251691	NM_020340.4	2001	cGg/cAg	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		32	0.895		HGNC	p.R2001Q	rs755946453	KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138655985,G,A&fts=all		hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		R/Q		A	low	6168/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=1919&re=2118&var=R2001Q	deleterious(0.02)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Arg2001Gln,ENST00000251691,NM_020340.4;							MODERATE	6002/6534	R2001Q	BIG3_HUMAN			Transcript		benign(0.004)	.	ENSP00000251691		CCDS5189.2			1	
USP8	0	LGGM	GRCh37	15	50785072	50785072	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	32	6	.	.	ENST00000433963.1:c.2409T>A	p.Asp803Glu	p.D803E	ENST00000433963	NM_001128611.1	803	gaT/gaA	0	1		UPI0000030306	0	getma.org/pdb.php?prot=UBP8_HUMAN&from=774&to=1106&var=D803E	ENST00000307179		ENSG00000138592	12631		38	0.49		HGNC	p.D803E		USP8		SNV			1				ENST00000307179	protein_coding	getma.org/?cm=var&var=hg19,15,50785072,T,A&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350,Pfam_domain:PF00443,Superfamily_domains:SSF54001		D/E		A	neutral	2607/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=774&re=1106&var=D803E	tolerated(0.83)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Asp803Glu,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Asp803Glu,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Asp803Glu,ENST00000307179,;USP8,missense_variant,p.Asp697Glu,ENST00000425032,NM_001283049.1;RP11-562A8.5,downstream_gene_variant,,ENST00000560159,;RP11-562A8.4,downstream_gene_variant,,ENST00000560380,;USP8,upstream_gene_variant,,ENST00000419830,;USP8,downstream_gene_variant,,ENST00000561206,;							MODERATE	2409/3357	D803E	UBP8_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000302239		CCDS10137.1			1	
CAPS2	0	LGGM	GRCh37	12	75683486	75683486	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	28	6	.	.	ENST00000409445.3:c.1367A>T	p.Gln456Leu	p.Q456L	ENST00000409445	NM_032606.3	456	cAg/cTg	0	1	1	UPI000006D783	0	getma.org/pdb.php?prot=CAYP2_HUMAN&from=435&to=510&var=Q456L	ENST00000409445		ENSG00000180881	16471		34	1.45		HGNC	p.Q46L		CAPS2		SNV							ENST00000442339	protein_coding	getma.org/?cm=var&var=hg19,12,75683486,T,A&fts=all		Superfamily_domains:SSF47473,SMART_domains:SM00054,Pfam_domain:PF13499,Gene3D:1.10.238.10,hmmpanther:PTHR10891:SF548,hmmpanther:PTHR10891,PROSITE_profiles:PS50222		Q/L		A	low	1564/2135		getma.org/?cm=msa&ty=f&p=CAYP2_HUMAN&rb=435&re=510&var=Q456L	tolerated(0.06)	F8VZC3_HUMAN			YES	CAPS2,missense_variant,p.Gln224Leu,ENST00000393284,;CAPS2,missense_variant,p.Gln46Leu,ENST00000442339,NM_001286549.1;CAPS2,missense_variant,p.Gln456Leu,ENST00000409445,NM_032606.3;CAPS2,missense_variant,p.Gln374Leu,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;							MODERATE	1367/1674	Q456L	CAYP2_HUMAN			Transcript		benign(0.403)	.	ENSP00000386959		CCDS9008.2			1	
PLK2	0	LGGM	GRCh37	5	57753355	57753355	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	23	6	.	.	ENST00000274289.3:c.769C>T	p.His257Tyr	p.H257Y	ENST00000274289	NM_006622.3	257	Cat/Tat	0	1	1	UPI0000135B35	0	getma.org/pdb.php?prot=PLK2_HUMAN&from=82&to=334&var=H257Y	ENST00000274289		ENSG00000145632	19699		29	-0.41		HGNC	p.H257Y		PLK2		SNV							ENST00000274289	protein_coding	getma.org/?cm=var&var=hg19,5,57753355,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24345:SF44,hmmpanther:PTHR24345,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		H/Y		A	neutral	1070/2960		getma.org/?cm=msa&ty=f&p=PLK2_HUMAN&rb=82&re=334&var=H257Y	deleterious(0)				YES	PLK2,missense_variant,p.His257Tyr,ENST00000274289,NM_006622.3,NM_001252226.1;PLK2,non_coding_transcript_exon_variant,,ENST00000502671,;PLK2,non_coding_transcript_exon_variant,,ENST00000515415,;PLK2,non_coding_transcript_exon_variant,,ENST00000509422,;PLK2,non_coding_transcript_exon_variant,,ENST00000508300,;PLK2,non_coding_transcript_exon_variant,,ENST00000509555,;PLK2,non_coding_transcript_exon_variant,,ENST00000503115,;PLK2,downstream_gene_variant,,ENST00000514306,;PLK2,upstream_gene_variant,,ENST00000503713,;PLK2,downstream_gene_variant,,ENST00000504196,;PLK2,upstream_gene_variant,,ENST00000510629,;PLK2,upstream_gene_variant,,ENST00000503378,;PLK2,upstream_gene_variant,,ENST00000505244,;PLK2,upstream_gene_variant,,ENST00000511326,;							MODERATE	769/2058	H257Y	PLK2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000274289		CCDS3974.1			1	
DPH2	0	LGGM	GRCh37	1	44435888	44435888	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	15	7	.	.	ENST00000255108.3:c.41A>C	p.Gln14Pro	p.Q14P	ENST00000255108	NM_001384.4	14	cAg/cCg	0	1	1	UPI0000070CCB	0	NA	ENST00000255108		ENSG00000132768	3004		22	1.845		HGNC	p.Q14P		DPH2		SNV							ENST00000492306	protein_coding	getma.org/?cm=var&var=hg19,1,44435888,A,C&fts=all		hmmpanther:PTHR10762,hmmpanther:PTHR10762:SF2		Q/P		C	low	213/2472		getma.org/?cm=msa&ty=f&p=DPH2_HUMAN&rb=1&re=53&var=Q14P	deleterious(0.02)	B3KRB8_HUMAN			YES	DPH2,missense_variant,p.Gln14Pro,ENST00000255108,NM_001384.4;DPH2,missense_variant,p.Gln14Pro,ENST00000396758,NM_001039589.1;DPH2,5_prime_UTR_variant,,ENST00000412950,;IPO13,downstream_gene_variant,,ENST00000372343,NM_014652.3;ATP6V0B,upstream_gene_variant,,ENST00000532642,;ATP6V0B,upstream_gene_variant,,ENST00000472174,NM_004047.3;IPO13,downstream_gene_variant,,ENST00000372339,;DPH2,upstream_gene_variant,,ENST00000459879,;ATP6V0B,upstream_gene_variant,,ENST00000236067,NM_001039457.1;ATP6V0B,upstream_gene_variant,,ENST00000471859,;ATP6V0B,upstream_gene_variant,,ENST00000472505,;DPH2,non_coding_transcript_exon_variant,,ENST00000529729,;DPH2,non_coding_transcript_exon_variant,,ENST00000477294,;DPH2,non_coding_transcript_exon_variant,,ENST00000471934,;ATP6V0B,upstream_gene_variant,,ENST00000472277,;IPO13,downstream_gene_variant,,ENST00000486876,;DPH2,missense_variant,p.Gln14Pro,ENST00000495421,;DPH2,missense_variant,p.Gln14Pro,ENST00000524776,;DPH2,missense_variant,p.Gln14Pro,ENST00000476260,;DPH2,missense_variant,p.Gln14Pro,ENST00000492306,;DPH2,missense_variant,p.Gln14Pro,ENST00000532140,;DPH2,non_coding_transcript_exon_variant,,ENST00000490861,;DPH2,non_coding_transcript_exon_variant,,ENST00000527567,;DPH2,non_coding_transcript_exon_variant,,ENST00000534786,;DPH2,non_coding_transcript_exon_variant,,ENST00000530988,;ATP6V0B,upstream_gene_variant,,ENST00000468183,;ATP6V0B,upstream_gene_variant,,ENST00000473485,;ATP6V0B,upstream_gene_variant,,ENST00000496131,;DPH2,upstream_gene_variant,,ENST00000527319,;DPH2,upstream_gene_variant,,ENST00000534655,;ATP6V0B,upstream_gene_variant,,ENST00000461670,;ATP6V0B,upstream_gene_variant,,ENST00000498208,;							MODERATE	41/1470	Q14P	DPH2_HUMAN			Transcript		benign(0.105)	.	ENSP00000255108		CCDS504.1			1	
ARHGAP21	0	LGGM	GRCh37	10	24909978	24909978	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	32	7	.	.	ENST00000396432.2:c.846A>G	p.Val282=	p.V282=	ENST00000396432	NM_020824.3	282	gtA/gtG	0	1	1	UPI0001639C78	0		ENST00000396432		ENSG00000107863	23725		39			HGNC	p.V272V		ARHGAP21		SNV							ENST00000376410	protein_coding			hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175		V		C		1333/7167				E7ESW5_HUMAN			YES	ARHGAP21,synonymous_variant,p.=,ENST00000396432,NM_020824.3;ARHGAP21,synonymous_variant,p.=,ENST00000320481,;ARHGAP21,synonymous_variant,p.=,ENST00000446003,;ARHGAP21,synonymous_variant,p.=,ENST00000376410,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000483114,;							LOW	846/5877		RHG21_HUMAN			Transcript			.	ENSP00000379709		CCDS7144.2			1	
HECW1	0	LGGM	GRCh37	7	43351573	43351573	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	20	7	.	.	ENST00000395891.2:c.239C>T	p.Thr80Met	p.T80M	ENST00000395891	NM_015052.3	80	aCg/aTg	0	1	1	UPI0000D74C41	0	getma.org/pdb.php?prot=HECW1_HUMAN&from=1&to=200&var=T80M	ENST00000395891		ENSG00000002746	22195		27	1.52		HGNC	p.T80M	rs754051189,COSM3230182,COSM3230183	HECW1		SNV						0,1,1	ENST00000395891	protein_coding	getma.org/?cm=var&var=hg19,7,43351573,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254		T/M		T	low	844/9501	3.00E-05	getma.org/?cm=msa&ty=f&p=HECW1_HUMAN&rb=1&re=200&var=T80M	deleterious(0)	A4D1V5_HUMAN			YES	HECW1,missense_variant,p.Thr80Met,ENST00000395891,NM_015052.3;HECW1,missense_variant,p.Thr80Met,ENST00000453890,NM_001287059.1;HECW1,non_coding_transcript_exon_variant,,ENST00000492310,;HECW1,non_coding_transcript_exon_variant,,ENST00000464944,;HECW1,non_coding_transcript_exon_variant,,ENST00000490954,;					0,1,1		MODERATE	239/4821	T80M	HECW1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379228	1.65E-05	CCDS5469.2			1	
MDN1	0	LGGM	GRCh37	6	90497608	90497608	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	38	7	.	.	ENST00000369393.3:c.1299A>G	p.Lys433=	p.K433=	ENST00000369393		433	aaA/aaG	0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		45			HGNC	p.K433K		MDN1		SNV							ENST00000369393	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF07728,PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		K		C		1415/18413				M0QXR3_HUMAN			YES	MDN1,synonymous_variant,p.=,ENST00000369393,;MDN1,synonymous_variant,p.=,ENST00000428876,NM_014611.1;MDN1,intron_variant,,ENST00000439638,;							LOW	1299/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
BPNT1	0	LGGM	GRCh37	1	220232209	220232209	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	57	7	.	.	ENST00000469520.2:c.904A>G	p.Ile302Val	p.I302V	ENST00000469520		302	Att/Gtt	0	1		UPI000007212C	0	getma.org/pdb.php?prot=BPNT1_HUMAN&from=8&to=303&var=I302V	ENST00000322067		ENSG00000162813	1096		64	-1.875		HGNC	p.I247V		BPNT1		SNV							ENST00000544404	protein_coding	getma.org/?cm=var&var=hg19,1,220232209,T,C&fts=all		hmmpanther:PTHR20854:SF5,hmmpanther:PTHR20854,Gene3D:3.40.190.80		I/V		C	neutral	1076/2461		getma.org/?cm=msa&ty=f&p=BPNT1_HUMAN&rb=8&re=303&var=I302V	tolerated(1)	F8VVW8_HUMAN,F8VRY7_HUMAN,B4DPS5_HUMAN				BPNT1,missense_variant,p.Ile302Val,ENST00000469520,;BPNT1,missense_variant,p.Ile302Val,ENST00000322067,NM_006085.4,NM_001286151.1;BPNT1,missense_variant,p.Ile247Val,ENST00000544404,NM_001286149.1;BPNT1,missense_variant,p.Ile266Val,ENST00000414869,NM_001286150.1;BPNT1,intron_variant,,ENST00000354807,;BPNT1,downstream_gene_variant,,ENST00000463953,;BPNT1,downstream_gene_variant,,ENST00000480959,;BPNT1,downstream_gene_variant,,ENST00000498791,;BPNT1,downstream_gene_variant,,ENST00000482136,;							MODERATE	904/927	I302V	BPNT1_HUMAN			Transcript		benign(0.001)	.	ENSP00000318852		CCDS41469.1			1	
HRNR	0	LGGM	GRCh37	1	152193777	152193777	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	50	8	.	.	ENST00000368801.2:c.328G>T	p.Glu110Ter	p.E110*	ENST00000368801	NM_001009931.2	110	Gag/Tag	0	1	1	UPI00001D7CAD	0	NA	ENST00000368801		ENSG00000197915	20846		58	0		HGNC	p.E110X	rs757129856	HRNR		SNV							ENST00000368801	protein_coding	getma.org/?cm=var&var=hg19,1,152193777,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22571:SF23,hmmpanther:PTHR22571		E/*		A	NA	404/9623	1.50E-05	NA		Q5W8V9_HUMAN			YES	HRNR,stop_gained,p.Glu110Ter,ENST00000368801,NM_001009931.2;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;							HIGH	328/8553	E110*	HORN_HUMAN			Transcript			.	ENSP00000357791	8.24E-06	CCDS30859.1			1	
CAMSAP1	0	LGGM	GRCh37	9	138707767	138707767	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	22	8	.	.	ENST00000389532.4:c.4356A>G	p.Ala1452=	p.A1452=	ENST00000389532	NM_015447.3	1452	gcA/gcG	0	1	1	UPI0000EDA283	0		ENST00000389532		ENSG00000130559	19946		30			HGNC	p.A1452A	rs771413183	CAMSAP1		SNV							ENST00000389532	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF3		A		C		4421/7696	1.50E-05						YES	CAMSAP1,synonymous_variant,p.=,ENST00000389532,NM_015447.3;CAMSAP1,synonymous_variant,p.=,ENST00000312405,;CAMSAP1,synonymous_variant,p.=,ENST00000409386,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,;CAMSAP1,downstream_gene_variant,,ENST00000493088,;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000482664,;CAMSAP1,intron_variant,,ENST00000487868,;							LOW	4356/4809		CAMP1_HUMAN			Transcript			.	ENSP00000374183	8.24E-06	CCDS35176.2			1	
TRIM71	0	LGGM	GRCh37	3	32932085	32932085	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	43	8	.	.	ENST00000383763.5:c.1389C>A	p.Pro463=	p.P463=	ENST00000383763	NM_001039111.1	463	ccC/ccA	0	1	1	UPI000067CB89	0		ENST00000383763		ENSG00000206557	32669		51			HGNC	p.P463P		TRIM71		SNV							ENST00000383763	protein_coding			hmmpanther:PTHR24103:SF281,hmmpanther:PTHR24103		P		A		1452/8685							YES	TRIM71,synonymous_variant,p.=,ENST00000383763,NM_001039111.1;							LOW	1389/2607		LIN41_HUMAN			Transcript			.	ENSP00000373272		CCDS43060.1			1	
PCDHGB3	0	LGGM	GRCh37	5	140751680	140751680	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	22	8	.	.	ENST00000576222.1:c.1719G>A	p.Ala573=	p.A573=	ENST00000576222	NM_018924.2	573	gcG/gcA	0	1	1	UPI000006FA6F	0		ENST00000576222		ENSG00000262209	8710		30			HGNC	p.A573A		PCDHGB3		SNV							ENST00000576222	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF106,Superfamily_domains:SSF49313		A		A		1850/4727				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB3,synonymous_variant,p.=,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;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;							LOW	1719/2790		PCDGF_HUMAN			Transcript			.	ENSP00000461862		CCDS58980.1			1	
MYO1F	0	LGGM	GRCh37	19	8616728	8616728	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	18	8	.	.	ENST00000338257.8:c.667C>A	p.Gln223Lys	p.Q223K	ENST00000338257	NM_012335.3	223	Cag/Aag	0	1	1	UPI00001678F0	0	getma.org/pdb.php?prot=MYO1F_HUMAN&from=19&to=677&var=Q223K	ENST00000338257		ENSG00000142347	7600		26	0.29		HGNC	p.Q223K		MYO1F		SNV							ENST00000338257	protein_coding	getma.org/?cm=var&var=hg19,19,8616728,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288,PROSITE_profiles:PS51456		Q/K		T	neutral	935/4303		getma.org/?cm=msa&ty=f&p=MYO1F_HUMAN&rb=19&re=677&var=Q223K	tolerated(0.07)	Q14779_HUMAN,M0QXU2_HUMAN			YES	MYO1F,missense_variant,p.Gln223Lys,ENST00000338257,NM_012335.3;MYO1F,downstream_gene_variant,,ENST00000596675,;AC092316.2,downstream_gene_variant,,ENST00000581156,;AC092316.1,downstream_gene_variant,,ENST00000598703,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594977,;MYO1F,non_coding_transcript_exon_variant,,ENST00000595325,;MYO1F,non_coding_transcript_exon_variant,,ENST00000594774,;MYO1F,non_coding_transcript_exon_variant,,ENST00000598529,;MYO1F,upstream_gene_variant,,ENST00000595191,;MYO1F,upstream_gene_variant,,ENST00000602136,;MYO1F,downstream_gene_variant,,ENST00000598321,;MYO1F,downstream_gene_variant,,ENST00000596645,;MYO1F,upstream_gene_variant,,ENST00000600825,;MYO1F,downstream_gene_variant,,ENST00000599123,;MYO1F,upstream_gene_variant,,ENST00000596937,;							MODERATE	667/3297	Q223K	MYO1F_HUMAN			Transcript		benign(0.021)	.	ENSP00000344871		CCDS42494.1			1	
ST6GAL2	0	LGGM	GRCh37	2	107460204	107460204	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	28	9	.	.	ENST00000409382.3:c.230G>A	p.Arg77His	p.R77H	ENST00000409382	NM_001142351.1	77	cGc/cAc	0	1		UPI000007477B	0	NA	ENST00000361686		ENSG00000144057	10861		37	-0.345		HGNC	p.R77H	COSM3406754,COSM3406755	ST6GAL2		SNV						1,1	ENST00000409087	protein_coding	getma.org/?cm=var&var=hg19,2,107460204,C,T&fts=all		hmmpanther:PTHR13713,hmmpanther:PTHR13713:SF48		R/H		T	neutral	419/6857		getma.org/?cm=msa&ty=f&p=SIAT2_HUMAN&rb=1&re=139&var=R77H		C9JIK2_HUMAN,C4N9P8_HUMAN				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,;					1,1		MODERATE	230/1590	R77H	SIAT2_HUMAN			Transcript		benign(0.001)	.	ENSP00000355273		CCDS2073.1			1	
LZTR1	0	LGGM	GRCh37	22	21344737	21344737	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	34	9	.	.	ENST00000215739.8:c.714C>G	p.Asp238Glu	p.D238E	ENST00000215739	NM_006767.3	238	gaC/gaG	0	1	1	UPI000013C695	0	NA	ENST00000215739		ENSG00000099949	6742		43	1.16		HGNC	p.D219E		LZTR1		SNV			1				ENST00000389355	protein_coding	getma.org/?cm=var&var=hg19,22,21344737,C,G&fts=all		hmmpanther:PTHR23244:SF15,hmmpanther:PTHR23244,Gene3D:1zgkA00,Superfamily_domains:0052715		D/E		G	low	1073/4572		getma.org/?cm=msa&ty=f&p=LZTR1_HUMAN&rb=226&re=282&var=D238E	tolerated(0.19)	B2R8T5_HUMAN			YES	LZTR1,missense_variant,p.Asp238Glu,ENST00000215739,NM_006767.3;LZTR1,missense_variant,p.Asp219Glu,ENST00000389355,;LZTR1,non_coding_transcript_exon_variant,,ENST00000479606,;LZTR1,non_coding_transcript_exon_variant,,ENST00000497716,;LZTR1,non_coding_transcript_exon_variant,,ENST00000480895,;LZTR1,3_prime_UTR_variant,,ENST00000414985,;LZTR1,upstream_gene_variant,,ENST00000463909,;LZTR1,upstream_gene_variant,,ENST00000452988,;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,;LZTR1,downstream_gene_variant,,ENST00000493460,;							MODERATE	714/2523	D238E	LZTR1_HUMAN			Transcript		benign(0.042)	.	ENSP00000215739		CCDS33606.1			1	
MNDA	0	LGGM	GRCh37	1	158811988	158811988	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	18	10	.	.	ENST00000368141.4:c.45G>T	p.Glu15Asp	p.E15D	ENST00000368141	NM_002432.1	15	gaG/gaT	0	1	1	UPI0000001609	0	getma.org/pdb.php?prot=MNDA_HUMAN&from=6&to=84&var=E15D	ENST00000368141		ENSG00000163563	7183		28	2.165		HGNC	p.E15D		MNDA		SNV							ENST00000368141	protein_coding	getma.org/?cm=var&var=hg19,1,158811988,G,T&fts=all		Pfam_domain:PF02758,PROSITE_profiles:PS50824,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18		E/D		T	medium	306/1752		getma.org/?cm=msa&ty=f&p=MNDA_HUMAN&rb=6&re=84&var=E15D	tolerated(0.08)	Q5VUU6_HUMAN			YES	MNDA,missense_variant,p.Glu15Asp,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,non_coding_transcript_exon_variant,,ENST00000491210,;							MODERATE	45/1224	E15D	MNDA_HUMAN			Transcript		benign(0.157)	.	ENSP00000357123		CCDS1177.1			1	
TP53	0	LGGM	GRCh37	17	7578410	7578410	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	10	10	.	.	ENST00000269305.4:c.520A>T	p.Arg174Trp	p.R174W	ENST00000269305	NM_001126112.2	174	Agg/Tgg	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R174W	ENST00000269305		ENSG00000141510	11998		20	2.705		HGNC	p.R81W	TP53_g.12508A>T,COSM44782,COSM131454,COSM131455,COSM131457,COSM3773316,COSM3773315,COSM131456	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000514944	protein_coding	getma.org/?cm=var&var=hg19,17,7578410,T,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/W		A	medium	710/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R174W	deleterious(0)	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			YES	TP53,missense_variant,p.Arg174Trp,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg174Trp,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg174Trp,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg174Trp,ENST00000445888,;TP53,missense_variant,p.Arg174Trp,ENST00000359597,;TP53,missense_variant,p.Arg174Trp,ENST00000413465,;TP53,missense_variant,p.Arg42Trp,ENST00000509690,;TP53,missense_variant,p.Arg81Trp,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,;					0,1,1,1,1,1,1,1		MODERATE	520/1182	R174W	P53_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000269305		CCDS11118.1			1	
RBPJ	0	LGGM	GRCh37	4	26426031	26426031	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	23	11	.	.	ENST00000342295.1:c.603A>G	p.Arg201=	p.R201=	ENST00000342295	NM_005349.3	201	agA/agG	0	1	1	UPI000020BDF1	0		ENST00000342295		ENSG00000168214	5724		34			HGNC	p.R186R		RBPJ		SNV			1				ENST00000345843	protein_coding			Superfamily_domains:0049692,Pfam_domain:PF09270,Gene3D:2.80.10.50,hmmpanther:PTHR10665:SF3,hmmpanther:PTHR10665		R		G		839/2388				D6RBQ8_HUMAN,D6RB37_HUMAN,D6RA45_HUMAN,D6R946_HUMAN			YES	RBPJ,synonymous_variant,p.=,ENST00000342320,;RBPJ,synonymous_variant,p.=,ENST00000355476,NM_203284.2;RBPJ,synonymous_variant,p.=,ENST00000342295,NM_005349.3;RBPJ,synonymous_variant,p.=,ENST00000348160,NM_015874.4;RBPJ,synonymous_variant,p.=,ENST00000361572,;RBPJ,synonymous_variant,p.=,ENST00000507561,;RBPJ,synonymous_variant,p.=,ENST00000345843,NM_203283.2;RBPJ,synonymous_variant,p.=,ENST00000504907,;RBPJ,synonymous_variant,p.=,ENST00000510778,;RBPJ,synonymous_variant,p.=,ENST00000515573,;RBPJ,downstream_gene_variant,,ENST00000512671,;RBPJ,downstream_gene_variant,,ENST00000504938,;RBPJ,downstream_gene_variant,,ENST00000507574,;RBPJ,downstream_gene_variant,,ENST00000514675,;RBPJ,downstream_gene_variant,,ENST00000511546,;RBPJ,downstream_gene_variant,,ENST00000514730,;RBPJ,upstream_gene_variant,,ENST00000504423,;RBPJ,non_coding_transcript_exon_variant,,ENST00000514380,;RBPJ,non_coding_transcript_exon_variant,,ENST00000506903,;RBPJ,downstream_gene_variant,,ENST00000511451,;RBPJ,upstream_gene_variant,,ENST00000510725,;							LOW	603/1503		SUH_HUMAN			Transcript			.	ENSP00000345206		CCDS3437.1			1	
C5orf42	0	LGGM	GRCh37	5	37221558	37221558	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	25	11	.	.	ENST00000425232.2:c.2614T>C	p.Tyr872His	p.Y872H	ENST00000425232	NM_023073.3	872	Tat/Cat	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		36	2.24		HGNC	p.Y872H		C5orf42		SNV			1				ENST00000508244	protein_coding	getma.org/?cm=var&var=hg19,5,37221558,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		Y/H		G	medium	2845/11199		getma.org/?cm=msa&ty=f&p=YE031_HUMAN&rb=561&re=1104&var=Y872H	deleterious(0)				YES	C5orf42,missense_variant,p.Tyr872His,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Tyr872His,ENST00000508244,;C5orf42,5_prime_UTR_variant,,ENST00000274258,;							MODERATE	2614/9594	Y872H	CE042_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000389014		CCDS34146.2			1	
MSL2	0	LGGM	GRCh37	3	135870645	135870645	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	31	12	.	.	ENST00000309993.2:c.1078A>C	p.Ile360Leu	p.I360L	ENST00000309993	NM_018133.3	360	Att/Ctt	0	1	1	UPI000020A2D7	0	NA	ENST00000309993		ENSG00000174579	25544		43	0.345		HGNC	p.I360L		MSL2		SNV							ENST00000309993	protein_coding	getma.org/?cm=var&var=hg19,3,135870645,T,G&fts=all		hmmpanther:PTHR16048,hmmpanther:PTHR16048:SF2		I/L		G	neutral	1811/4692		getma.org/?cm=msa&ty=f&p=MSL2_HUMAN&rb=201&re=400&var=I360L	tolerated(0.46)	C9J5S2_HUMAN,C9IZG7_HUMAN,C9IZ03_HUMAN			YES	MSL2,missense_variant,p.Ile360Leu,ENST00000309993,NM_018133.3;MSL2,missense_variant,p.Ile286Leu,ENST00000434835,NM_001145417.1;PPP2R3A,downstream_gene_variant,,ENST00000264977,NM_001190447.1,NM_002718.4;MSL2,downstream_gene_variant,,ENST00000481989,;MSL2,downstream_gene_variant,,ENST00000491050,;MSL2,downstream_gene_variant,,ENST00000473093,;TDGF1P6,upstream_gene_variant,,ENST00000463873,;							MODERATE	1078/1734	I360L	MSL2_HUMAN			Transcript		benign(0.006)	.	ENSP00000311827		CCDS33861.1			1	
FRS3	0	LGGM	GRCh37	6	41738658	41738658	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	20	12	.	.	ENST00000373018.3:c.1178G>C	p.Arg393Pro	p.R393P	ENST00000373018	NM_006653.4	393	cGc/cCc	0	1		UPI0000073ACA	0	NA	ENST00000259748		ENSG00000137218	16970		32	1.65		HGNC	p.R393P		FRS3		SNV							ENST00000259748	protein_coding	getma.org/?cm=var&var=hg19,6,41738658,C,G&fts=all		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF39		R/P		G	low	1350/2094		getma.org/?cm=msa&ty=f&p=FRS3_HUMAN&rb=310&re=492&var=R393P	tolerated(0.1)	A6PVU0_HUMAN				FRS3,missense_variant,p.Arg393Pro,ENST00000373018,NM_006653.4;FRS3,missense_variant,p.Arg393Pro,ENST00000259748,;FRS3,downstream_gene_variant,,ENST00000426290,;FRS3,downstream_gene_variant,,ENST00000422888,;							MODERATE	1178/1479	R393P	FRS3_HUMAN			Transcript		possibly_damaging(0.637)	.	ENSP00000259748		CCDS4860.1			1	
TBC1D30	0	LGGM	GRCh37	12	65268918	65268918	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	55	13	.	.	ENST00000539867.1:c.1636G>A	p.Gly546Arg	p.G546R	ENST00000539867	NM_015279.1	546	Gga/Aga	0	1	1	UPI000013F308	0	NA	ENST00000539867		ENSG00000111490	29164		68	1.79		HGNC	p.G546R		TBC1D30		SNV							ENST00000539867	protein_coding	getma.org/?cm=var&var=hg19,12,65268918,G,A&fts=all		hmmpanther:PTHR22957:SF253,hmmpanther:PTHR22957		G/R		A	low	1944/2594		getma.org/?cm=msa&ty=f&p=TBC30_HUMAN&rb=537&re=922&var=G709R	tolerated(0.08)	F8VZ81_HUMAN,F5H7L7_HUMAN			YES	TBC1D30,missense_variant,p.Gly432Arg,ENST00000542120,;TBC1D30,missense_variant,p.Gly709Arg,ENST00000229088,;TBC1D30,missense_variant,p.Gly546Arg,ENST00000539867,NM_015279.1;							MODERATE	1636/2286	G709R	TBC30_HUMAN			Transcript		possibly_damaging(0.662)	.	ENSP00000440207		CCDS53813.1			1	
WNT2	0	LGGM	GRCh37	7	116918243	116918243	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	29	13	.	.	ENST00000265441.3:c.1049C>T	p.Ala350Val	p.A350V	ENST00000265441	NM_003391.2	350	gCc/gTc	0	1	1	UPI0000051044	0	NA	ENST00000265441		ENSG00000105989	12780		42	2.25		HGNC	p.A350V	COSM1643219	WNT2		SNV						1	ENST00000265441	protein_coding	getma.org/?cm=var&var=hg19,7,116918243,G,A&fts=all		hmmpanther:PTHR12027:SF86,hmmpanther:PTHR12027		A/V		A	medium	1349/2907		getma.org/?cm=msa&ty=f&p=WNT2_HUMAN&rb=320&re=360&var=A350V	deleterious_low_confidence(0.01)	A4D0V1_HUMAN			YES	WNT2,missense_variant,p.Ala350Val,ENST00000265441,NM_003391.2;WNT2,3_prime_UTR_variant,,ENST00000449446,;					1		MODERATE	1049/1083	A350V	WNT2_HUMAN			Transcript		benign(0.395)	.	ENSP00000265441		CCDS5771.1			1	
SLC24A5	0	LGGM	GRCh37	15	48434325	48434325	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	24	13	.	.	ENST00000341459.3:c.1280G>A	p.Gly427Glu	p.G427E	ENST00000341459	NM_205850.2	427	gGa/gAa	0	1	1	UPI0000242BC9	0	NA	ENST00000341459		ENSG00000188467	20611		37	1.115		HGNC	p.G367E		SLC24A5		SNV			1				ENST00000449382	protein_coding	getma.org/?cm=var&var=hg19,15,48434325,G,A&fts=all		Pfam_domain:PF01699,TIGRFAM_domain:TIGR00367,hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846		G/E		A	low	1353/1897		getma.org/?cm=msa&ty=f&p=NCKX5_HUMAN&rb=343&re=482&var=G427E	tolerated(0.87)				YES	SLC24A5,missense_variant,p.Gly427Glu,ENST00000341459,NM_205850.2;SLC24A5,missense_variant,p.Gly367Glu,ENST00000449382,;MYEF2,3_prime_UTR_variant,,ENST00000324324,NM_016132.3;MYEF2,3_prime_UTR_variant,,ENST00000267836,;MYEF2,3_prime_UTR_variant,,ENST00000560172,;MYEF2,downstream_gene_variant,,ENST00000558395,;MYEF2,non_coding_transcript_exon_variant,,ENST00000558289,;MYEF2,non_coding_transcript_exon_variant,,ENST00000560530,;SLC24A5,downstream_gene_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000559057,;							MODERATE	1280/1503	G427E	NCKX5_HUMAN			Transcript		benign(0.003)	.	ENSP00000341550		CCDS10128.1			1	
CCDC88A	0	LGGM	GRCh37	2	55529048	55529048	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	45	15	.	.	ENST00000336838.6:c.4629T>G	p.Ser1543=	p.S1543=	ENST00000336838		1543	tcT/tcG	0	1		UPI000150AEEC	0		ENST00000436346		ENSG00000115355	25523	8.65E-05	60			HGNC	p.S1543S	rs750827561	CCDC88A		SNV							ENST00000413716	protein_coding			hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30		S		C		5474/9811				C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,synonymous_variant,p.=,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,synonymous_variant,p.=,ENST00000263630,NM_018084.4;CCDC88A,synonymous_variant,p.=,ENST00000336838,;CCDC88A,synonymous_variant,p.=,ENST00000413716,;CCDC88A,synonymous_variant,p.=,ENST00000426576,;CCDC88A,synonymous_variant,p.=,ENST00000412148,;CCDC88A,synonymous_variant,p.=,ENST00000456975,;CCDC88A,intron_variant,,ENST00000444458,;CCDC88A,intron_variant,,ENST00000422883,;							LOW	4632/5616		GRDN_HUMAN			Transcript			.	ENSP00000410608	8.24E-06				1	
IGSF21	0	LGGM	GRCh37	1	18554424	18554424	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	37	15	.	.	ENST00000251296.1:c.103C>T	p.Pro35Ser	p.P35S	ENST00000251296	NM_032880.4	35	Cct/Tct	0	1	1	UPI000006FCF2	0	NA	ENST00000251296		ENSG00000117154	28246	8.64E-05	52	2.14		HGNC	p.P35S	rs150336992	IGSF21	6.06E-05	SNV	G:0.0005						ENST00000251296	protein_coding	getma.org/?cm=var&var=hg19,1,18554424,C,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF442,SMART_domains:SM00409		P/S	G:0.0001	T	medium	486/1943	7.49E-05	getma.org/?cm=msa&ty=f&p=IGS21_HUMAN&rb=27&re=133&var=P35S	deleterious(0.01)				YES	IGSF21,missense_variant,p.Pro35Ser,ENST00000251296,NM_032880.4;		G:0.0010					MODERATE	103/1404	P35S	IGS21_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251296	5.77E-05	CCDS184.1			1	
SLMO2	0	LGGM	GRCh37	20	57611525	57611525	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	28	16	.	.	ENST00000355937.4:c.465+1G>A		p.X155_splice	ENST00000355937	NM_016045.2			0	1	1	UPI00001285DF	0		ENST00000355937		ENSG00000101166	15892		44			HGNC	-		SLMO2		SNV							ENST00000355937	protein_coding							T		-/2626							YES	SLMO2,splice_donor_variant,,ENST00000355937,NM_016045.2;SLMO2,splice_donor_variant,,ENST00000371033,NM_001256403.1;ATP5E,upstream_gene_variant,,ENST00000243997,NM_006886.3;ATP5E,upstream_gene_variant,,ENST00000395659,;ATP5E,upstream_gene_variant,,ENST00000395663,;SLMO2,splice_donor_variant,,ENST00000463057,;SLMO2,downstream_gene_variant,,ENST00000466051,;							HIGH	465/585		SLMO2_HUMAN			Transcript			.	ENSP00000348206		CCDS42893.1			1	
MUC16	0	LGGM	GRCh37	19	9064330	9064330	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	50	16	.	.	ENST00000397910.4:c.23116T>A	p.Phe7706Ile	p.F7706I	ENST00000397910	NM_024690.2	7706	Ttc/Atc	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		66	0.345		HGNC	p.F7706I		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9064330,A,T&fts=all				F/I		T	neutral	23320/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=7534&re=7864&var=F7708I		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Phe7706Ile,ENST00000397910,NM_024690.2;							MODERATE	23116/43524	F7708I				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125504942	125504942	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	90	16	.	.	ENST00000431078.1:c.2211C>T	p.Cys737=	p.C737=	ENST00000431078	NM_130773.3	737	tgC/tgT	0	1	1	UPI0000071988	0		ENST00000431078		ENSG00000155052	18748		106			HGNC	p.C737C	rs781721386,COSM1399174	CNTNAP5		SNV						0,1	ENST00000431078	protein_coding			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Superfamily_domains:SSF49899		C		T		2575/5284	1.50E-05						YES	CNTNAP5,synonymous_variant,p.=,ENST00000431078,NM_130773.3;					0,1		LOW	2211/3921		CNTP5_HUMAN			Transcript			.	ENSP00000399013	8.26E-06	CCDS46401.1			1	
AGO1	0	LGGM	GRCh37	1	36383249	36383249	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	61	19	.	.	ENST00000373204.4:c.2084A>T	p.Asp695Val	p.D695V	ENST00000373204	NM_012199.2	695	gAc/gTc	0	1	1	UPI000012D07D	0	getma.org/pdb.php?prot=AGO1_HUMAN&from=515&to=816&var=D695V	ENST00000373204		ENSG00000092847	3262		80	2.285		HGNC	p.D695V		AGO1		SNV							ENST00000373204	protein_coding	getma.org/?cm=var&var=hg19,1,36383249,A,T&fts=all		PROSITE_profiles:PS50822,hmmpanther:PTHR22891,hmmpanther:PTHR22891:SF17,Pfam_domain:PF02171,Gene3D:3.30.420.10,SMART_domains:SM00950,Superfamily_domains:SSF53098		D/V		T	medium	2297/12790		getma.org/?cm=msa&ty=f&p=AGO1_HUMAN&rb=515&re=816&var=D695V	deleterious(0)	Q5TA58_HUMAN			YES	AGO1,missense_variant,p.Asp695Val,ENST00000373204,NM_012199.2;AGO1,missense_variant,p.Asp620Val,ENST00000373206,;							MODERATE	2084/2574	D695V	AGO1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362300		CCDS398.1			1	
PRPF38B	0	LGGM	GRCh37	1	109242033	109242033	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104351	H104351N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	63	21	.	.	ENST00000370025.4:c.1032T>A	p.Asp344Glu	p.D344E	ENST00000370025	NM_018061.2	344	gaT/gaA	0	1	1	UPI000013CF13	0	NA	ENST00000370025		ENSG00000134186	25512		84	0.205		HGNC	p.D233E		PRPF38B		SNV							ENST00000370021	protein_coding	getma.org/?cm=var&var=hg19,1,109242033,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23142		D/E		A	neutral	1301/3693		getma.org/?cm=msa&ty=f&p=PR38B_HUMAN&rb=253&re=364&var=D344E	tolerated(0.08)				YES	PRPF38B,missense_variant,p.Asp233Glu,ENST00000370021,;PRPF38B,missense_variant,p.Asp344Glu,ENST00000370025,NM_018061.2;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,downstream_gene_variant,,ENST00000467302,;PRPF38B,downstream_gene_variant,,ENST00000485810,;							MODERATE	1032/1641	D344E	PR38B_HUMAN			Transcript		unknown(0)	.	ENSP00000359042		CCDS788.1			1	
XRRA1	0	LGGM	GRCh37	11	74648016	74648016	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104351	H104351N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	47	24	.	.	ENST00000340360.6:c.192G>T	p.Ala64=	p.A64=	ENST00000340360	NM_182969.2	64	gcG/gcT	0	1	1	UPI0001572CC6	0		ENST00000340360		ENSG00000166435	18868		71			HGNC	p.A64A		XRRA1		SNV							ENST00000340360	protein_coding			hmmpanther:PTHR22710		A		A		524/5681				E9PJ58_HUMAN			YES	XRRA1,synonymous_variant,p.=,ENST00000340360,NM_182969.2;XRRA1,synonymous_variant,p.=,ENST00000527087,NM_001270380.1;XRRA1,synonymous_variant,p.=,ENST00000525407,;XRRA1,5_prime_UTR_variant,,ENST00000321448,NM_001270381.1;XRRA1,5_prime_UTR_variant,,ENST00000528219,;XRRA1,5_prime_UTR_variant,,ENST00000531852,;XRRA1,non_coding_transcript_exon_variant,,ENST00000533598,;XRRA1,non_coding_transcript_exon_variant,,ENST00000534041,;XRRA1,non_coding_transcript_exon_variant,,ENST00000534798,;XRRA1,non_coding_transcript_exon_variant,,ENST00000524430,;XRRA1,non_coding_transcript_exon_variant,,ENST00000529400,;XRRA1,5_prime_UTR_variant,,ENST00000531849,;XRRA1,5_prime_UTR_variant,,ENST00000530562,;XRRA1,upstream_gene_variant,,ENST00000533990,;							LOW	192/2379		XRRA1_HUMAN			Transcript			.	ENSP00000339918		CCDS44680.1			1	
MYO1H	0	LGGM	GRCh37	12	109831227	109831227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	74	31	.	.	ENST00000310903.5:c.218A>T	p.Asn73Ile	p.N73I	ENST00000310903		73	aAt/aTt	0	1	1	UPI0001AFF951	0	getma.org/pdb.php?prot=MYO1H_HUMAN&from=13&to=688&var=N73I	ENST00000310903		ENSG00000174527	13879		105	2.84		HGNC	p.N73I		MYO1H		SNV							ENST00000310903	protein_coding	getma.org/?cm=var&var=hg19,12,109831227,A,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF353,SMART_domains:SM00242,Superfamily_domains:SSF52540		N/I		T	medium	324/4364		getma.org/?cm=msa&ty=f&p=MYO1H_HUMAN&rb=13&re=688&var=N73I	deleterious(0)	S4R387_HUMAN,F5H3C6_HUMAN			YES	MYO1H,missense_variant,p.Asn73Ile,ENST00000310903,;MYO1H,missense_variant,p.Asn73Ile,ENST00000431443,NM_001101421.3;							MODERATE	218/3069	N73I				Transcript		possibly_damaging(0.831)	.	ENSP00000439182		CCDS53826.1			1	
TBC1D8	0	LGGM	GRCh37	2	101654162	101654162	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	75	32	.	.	ENST00000376840.4:c.1239C>T	p.Leu413=	p.L413=	ENST00000376840		413	ctC/ctT	0	1	1	UPI00015ADD19	0		ENST00000376840		ENSG00000204634	17791		107			HGNC	p.L413L	rs745592536	TBC1D8		SNV							ENST00000376840	protein_coding			hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF218		L		A		1239/3627	1.50E-05						YES	TBC1D8,synonymous_variant,p.=,ENST00000409318,NM_001102426.1;TBC1D8,synonymous_variant,p.=,ENST00000376840,;TBC1D8,upstream_gene_variant,,ENST00000473937,;	0.000812						LOW	1239/3423		TBCD8_HUMAN			Transcript			common_variant	ENSP00000366036	6.62E-05	CCDS46375.1			1	
TTC23L	0	LGGM	GRCh37	5	34864616	34864616	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104351	H104351N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	85	41	.	.	ENST00000505624.1:c.611G>A	p.Gly204Asp	p.G204D	ENST00000505624	NM_144725.3	204	gGt/gAt	0	1	1	UPI000013F897	0	NA	ENST00000505624		ENSG00000205838	26355		126	1.7		HGNC	p.G204D		TTC23L		SNV							ENST00000502674	protein_coding	getma.org/?cm=var&var=hg19,5,34864616,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR14485:SF1,hmmpanther:PTHR14485		G/D		A	low	714/1353		getma.org/?cm=msa&ty=f&p=TT23L_HUMAN&rb=201&re=361&var=G204D	tolerated(0.46)				YES	TTC23L,missense_variant,p.Gly204Asp,ENST00000505624,NM_144725.3;TTC23L,non_coding_transcript_exon_variant,,ENST00000514080,;TTC23L,downstream_gene_variant,,ENST00000506758,;TTC23L,downstream_gene_variant,,ENST00000502782,;TTC23L,missense_variant,p.Gly204Asp,ENST00000502674,;TTC23L,3_prime_UTR_variant,,ENST00000508722,;CTD-2517O10.5,upstream_gene_variant,,ENST00000515352,;							MODERATE	611/1086	G204D	TT23L_HUMAN			Transcript		benign(0.003)	.	ENSP00000422188		CCDS54840.1			1	
BRD7	0	LGGM	GRCh37	16	50367483	50367483	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H104351	H104351N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104351N.bam, H104351T.bam	Illumina HiSeq	103	54	.	.	ENST00000394689.2:c.1011+2T>C		p.X337_splice	ENST00000394689	NM_001173984.2			0	1		UPI0000073E3C	0		ENST00000394688		ENSG00000166164	14310		157			HGNC	-		BRD7		SNV							ENST00000394688	protein_coding							G		-/5370				I3L4V5_HUMAN,I3L0Y7_HUMAN				BRD7,splice_donor_variant,,ENST00000394688,;BRD7,splice_donor_variant,,ENST00000394689,NM_001173984.2,NM_013263.4;BRD7,downstream_gene_variant,,ENST00000475877,;							HIGH	1011/1956		BRD7_HUMAN			Transcript			.	ENSP00000378180		CCDS10742.1			1	
FBXW10	0	LGGM	GRCh37	17	18661636	18661636	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	6	2	.	.	ENST00000395665.4:c.1251C>A	p.Val417=	p.V417=	ENST00000395665		417	gtC/gtA	0	1	1	UPI0000200B30	0		ENST00000395665		ENSG00000171931	1211		8			HGNC	p.V417V		FBXW10		SNV							ENST00000301938	protein_coding			hmmpanther:PTHR19872:SF7,hmmpanther:PTHR19872		V		A		1472/3431							YES	FBXW10,synonymous_variant,p.=,ENST00000308799,;FBXW10,synonymous_variant,p.=,ENST00000395667,NM_001267585.1;FBXW10,synonymous_variant,p.=,ENST00000395665,;FBXW10,synonymous_variant,p.=,ENST00000301938,NM_001267586.1;FBXW10,3_prime_UTR_variant,,ENST00000574478,;							LOW	1251/3159		FBW10_HUMAN			Transcript			.	ENSP00000379025		CCDS11199.3			1	
CIT	0	LGGM	GRCh37	12	120172092	120172092	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	44	3	.	.	ENST00000392521.2:c.3227A>T	p.Asp1076Val	p.D1076V	ENST00000392521	NM_001206999.1	1076	gAt/gTt	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		47	0.805		HGNC	p.D76V		CIT		SNV							ENST00000546026	protein_coding	getma.org/?cm=var&var=hg19,12,120172092,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		D/V		A	low	3154/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=428&re=1166&var=D1034V	deleterious(0)					CIT,missense_variant,p.Asp1076Val,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Asp1034Val,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Asp662Val,ENST00000392520,;CIT,missense_variant,p.Asp76Val,ENST00000546026,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,downstream_gene_variant,,ENST00000541841,;							MODERATE	3101/6084	D1034V	CTRO_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000261833		CCDS9192.1			1	
C4orf27	0	LGGM	GRCh37	4	170650775	170650775	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	36	3	.	.	ENST00000393381.2:c.995A>G	p.His332Arg	p.H332R	ENST00000393381	NM_017867.2	332	cAt/cGt	0	1	1	UPI000013D19D	0	NA	ENST00000393381		ENSG00000056050	26051		39	3.145		HGNC	p.H332R		C4orf27		SNV							ENST00000393381	protein_coding	getma.org/?cm=var&var=hg19,4,170650775,T,C&fts=all		hmmpanther:PTHR13386,hmmpanther:PTHR13386:SF1		H/R		C	medium	1071/1230		getma.org/?cm=msa&ty=f&p=CD027_HUMAN&rb=299&re=346&var=H332R	deleterious(0)				YES	C4orf27,missense_variant,p.His332Arg,ENST00000393381,NM_017867.2;C4orf27,non_coding_transcript_exon_variant,,ENST00000515204,;							MODERATE	995/1041	H332R	CD027_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000406598		CCDS3813.1			1	
TTN	0	LGGM	GRCh37	2	179612760	179612760	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	26	3	.	.	ENST00000589042.1:c.11311+5091A>T		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		29			HGNC	p.P4789P		TTN		SNV			1				ENST00000360870	protein_coding							A		-/104301				C9JQJ2_HUMAN				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,;							MODIFIER	-/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GLI2	0	LGGM	GRCh37	2	121746645	121746645	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	7	3	.	.	ENST00000452319.1:c.3155A>T	p.Asp1052Val	p.D1052V	ENST00000452319		1052	gAc/gTc	0	1		UPI000053FCB4	0	NA	ENST00000361492		ENSG00000074047	4318		10	0.895		HGNC	p.D724V	rs768151048	GLI2		SNV			1				ENST00000314490	protein_coding	getma.org/?cm=var&var=hg19,2,121746645,A,T&fts=all		hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818,Low_complexity_(Seg):seg		D/V		T	low	3185/6768	1.67E-05	getma.org/?cm=msa&ty=f&p=GLI2_HUMAN&rb=633&re=1092&var=D1052V	tolerated(0.13)	Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN				GLI2,missense_variant,p.Asp1052Val,ENST00000452319,;GLI2,missense_variant,p.Asp1052Val,ENST00000361492,NM_005270.4;GLI2,missense_variant,p.Asp724Val,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,downstream_gene_variant,,ENST00000437950,;							MODERATE	3155/4761	D1052V	GLI2_HUMAN			Transcript		benign(0.069)	.	ENSP00000354586	8.29E-06	CCDS33283.1			1	
IDUA	0	LGGM	GRCh37	4	998080	998080	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	22	3	.	.	ENST00000247933.4:c.1861C>A	p.Arg621=	p.R621=	ENST00000247933	NM_000203.3	621	Cga/Aga	0	1	1	UPI00004571D0	0		ENST00000247933		ENSG00000127415	5391		25			HGNC	p.R489R		IDUA		SNV			1				ENST00000514224	protein_coding			hmmpanther:PTHR12631:SF4,hmmpanther:PTHR12631		R		A		1949/2163				J9QQV7_HUMAN,D6REB5_HUMAN			YES	IDUA,synonymous_variant,p.=,ENST00000453894,;IDUA,synonymous_variant,p.=,ENST00000247933,NM_000203.3;IDUA,synonymous_variant,p.=,ENST00000514224,;IDUA,downstream_gene_variant,,ENST00000509948,;IDUA,downstream_gene_variant,,ENST00000502910,;IDUA,downstream_gene_variant,,ENST00000514192,;IDUA,downstream_gene_variant,,ENST00000504568,;IDUA,non_coding_transcript_exon_variant,,ENST00000514698,;IDUA,downstream_gene_variant,,ENST00000506561,;IDUA,downstream_gene_variant,,ENST00000502829,;IDUA,downstream_gene_variant,,ENST00000508168,;IDUA,downstream_gene_variant,,ENST00000514417,;							LOW	1861/1962		IDUA_HUMAN			Transcript			.	ENSP00000247933		CCDS3343.1			1	
SMIM23	0	LGGM	GRCh37	5	171217904	171217904	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	27	3	.	.	ENST00000330910.3:c.331G>A	p.Val111Met	p.V111M	ENST00000330910		111	Gtg/Atg	0	1	1	UPI000178DF2A	0	NA	ENST00000330910		ENSG00000185662	34440		30	1.04		HGNC	p.V111M		SMIM23		SNV							ENST00000330910	protein_coding	getma.org/?cm=var&var=hg19,5,171217904,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15466		V/M		A	low	331/468		getma.org/?cm=msa&ty=f&p=CE050_HUMAN&rb=12&re=143&var=V111M	deleterious_low_confidence(0.01)				YES	SMIM23,missense_variant,p.Val111Met,ENST00000330910,;SMIM23,missense_variant,p.Val107Met,ENST00000523047,;							MODERATE	331/468	V111M	CE050_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000331214					1	
CDH11	0	LGGM	GRCh37	16	65038626	65038626	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	8	3	.	.	ENST00000268603.4:c.147G>A	p.Gln49=	p.Q49=	ENST00000268603	NM_001797.2	49	caG/caA	0	1	1	UPI000013D7C5	0		ENST00000268603		ENSG00000140937	1750		11			HGNC	p.Q49Q		CDH11		SNV							ENST00000562998	protein_coding			hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85		Q		T		763/6857				H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN			YES	CDH11,synonymous_variant,p.=,ENST00000394156,;CDH11,synonymous_variant,p.=,ENST00000268603,NM_001797.2;CDH11,synonymous_variant,p.=,ENST00000567934,;CDH11,synonymous_variant,p.=,ENST00000562712,;CDH11,synonymous_variant,p.=,ENST00000562998,;CDH11,synonymous_variant,p.=,ENST00000564317,;CDH11,intron_variant,,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000562325,;CDH11,downstream_gene_variant,,ENST00000562882,;CDH11,non_coding_transcript_exon_variant,,ENST00000569624,;CDH11,downstream_gene_variant,,ENST00000565210,;CDH11,downstream_gene_variant,,ENST00000568340,;							LOW	147/2391		CAD11_HUMAN			Transcript			.	ENSP00000268603		CCDS10803.1			1	
SEMA6B	0	LGGM	GRCh37	19	4550929	4550929	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	37	3	.	.	ENST00000586582.1:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000586582	NM_032108.3	335	Gct/Act	0	1	1	UPI000004BA6B	0	getma.org/pdb.php?prot=SEM6B_HUMAN&from=65&to=485&var=A335T	ENST00000586582		ENSG00000167680	10739		40	3.565		HGNC	p.A335T		SEMA6B		SNV							ENST00000586965	protein_coding	getma.org/?cm=var&var=hg19,19,4550929,C,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF10,SMART_domains:SM00630,Superfamily_domains:SSF101912		A/T		T	high	1314/3986		getma.org/?cm=msa&ty=f&p=SEM6B_HUMAN&rb=65&re=485&var=A335T	deleterious(0)				YES	SEMA6B,missense_variant,p.Ala335Thr,ENST00000586582,NM_032108.3;SEMA6B,missense_variant,p.Ala335Thr,ENST00000301293,;SEMA6B,missense_variant,p.Ala335Thr,ENST00000586965,;SEMA6B,upstream_gene_variant,,ENST00000589889,;							MODERATE	1003/2667	A335T	SEM6B_HUMAN			Transcript		possibly_damaging(0.681)	.	ENSP00000467290		CCDS12131.1			1	
SLCO3A1	0	LGGM	GRCh37	15	92647694	92647694	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	32	3	.	.	ENST00000318445.6:c.931A>T	p.Arg311Ter	p.R311*	ENST00000318445	NM_013272.3	311	Aga/Tga	0	1	1	UPI00001AF1F7	0	NA	ENST00000318445		ENSG00000176463	10952		35	0		HGNC	p.R311X		SLCO3A1		SNV							ENST00000318445	protein_coding	getma.org/?cm=var&var=hg19,15,92647694,A,T&fts=all		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805		R/*		T	NA	1145/5115		NA					YES	SLCO3A1,stop_gained,p.Arg311Ter,ENST00000318445,NM_013272.3;SLCO3A1,stop_gained,p.Arg311Ter,ENST00000424469,NM_001145044.1;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555549,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000555769,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000556649,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;							HIGH	931/2133	R311*	SO3A1_HUMAN			Transcript			.	ENSP00000320634		CCDS10371.1			1	
CDH2	0	LGGM	GRCh37	18	25565659	25565659	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	43	4	.	.	ENST00000269141.3:c.1808C>A	p.Pro603His	p.P603H	ENST00000269141	NM_001792.3	603	cCt/cAt	0	1	1	UPI000013D7FD	0	getma.org/pdb.php?prot=CADH2_HUMAN&from=498&to=603&var=P603H	ENST00000269141		ENSG00000170558	1759		47	4.415		HGNC	p.P572H	COSM2808351	CDH2		SNV						1	ENST00000399380	protein_coding	getma.org/?cm=var&var=hg19,18,25565659,G,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313,Prints_domain:PR00205		P/H		T	high	2232/4332		getma.org/?cm=msa&ty=f&p=CADH2_HUMAN&rb=498&re=603&var=P603H	deleterious(0)	C9JMH2_HUMAN,C9J126_HUMAN			YES	CDH2,missense_variant,p.Pro603His,ENST00000269141,NM_001792.3;CDH2,missense_variant,p.Pro572His,ENST00000399380,;					1		MODERATE	1808/2721	P603H	CADH2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000269141		CCDS11891.1			1	
CFAP276	0	LGGM	GRCh37	1	109648661	109648661	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	40	4	.	.	ENST00000369949.4:c.463T>G	p.Phe155Val	p.F155V	ENST00000369949	NM_001122961.1	155	Ttc/Gtc	0	1		UPI000015FF91	0	NA	ENST00000369948		ENSG00000179902	32331		44	1.24		HGNC	p.F128V		C1orf194		SNV							ENST00000369945	protein_coding	getma.org/?cm=var&var=hg19,1,109648661,A,C&fts=all		hmmpanther:PTHR10924:SF7,hmmpanther:PTHR10924		F/V		C	low	575/663		getma.org/?cm=msa&ty=f&p=CA194_HUMAN&rb=131&re=169&var=F167V	deleterious(0)					C1orf194,missense_variant,p.Phe155Val,ENST00000369949,NM_001122961.1;C1orf194,missense_variant,p.Phe167Val,ENST00000369948,;C1orf194,missense_variant,p.Phe128Val,ENST00000369945,;C1orf194,3_prime_UTR_variant,,ENST00000462402,;C1orf194,3_prime_UTR_variant,,ENST00000460065,;C1orf194,downstream_gene_variant,,ENST00000369942,;RP5-1065J22.4,upstream_gene_variant,,ENST00000429752,;							MODERATE	499/510	F167V	CA194_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000358964					1	
GLUD1	0	LGGM	GRCh37	10	88819944	88819944	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	59	4	.	.	ENST00000277865.4:c.1252C>T	p.Leu418=	p.L418=	ENST00000277865	NM_005271.3	418	Ctg/Ttg	0	1	1	UPI0000001C96	0		ENST00000277865		ENSG00000148672	4335		63			HGNC	p.L285L		GLUD1		SNV			1				ENST00000544149	protein_coding			hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.50.720,Pfam_domain:PF00208,SMART_domains:SM00839,Superfamily_domains:SSF51735		L		A		1349/3039				Q9UQV0_HUMAN,E9KL48_HUMAN,B3KV55_HUMAN			YES	GLUD1,synonymous_variant,p.=,ENST00000277865,NM_005271.3;GLUD1,synonymous_variant,p.=,ENST00000537649,;GLUD1,synonymous_variant,p.=,ENST00000544149,;GLUD1,non_coding_transcript_exon_variant,,ENST00000487058,;GLUD1,downstream_gene_variant,,ENST00000465164,;GLUD1,downstream_gene_variant,,ENST00000474574,;							LOW	1252/1677		DHE3_HUMAN			Transcript			.	ENSP00000277865		CCDS7382.1			1	
TRPC3	0	LGGM	GRCh37	4	122854063	122854063	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	27	4	.	.	ENST00000379645.3:c.350T>C	p.Leu117Pro	p.L117P	ENST00000379645	NM_001130698.1	117	cTc/cCc	0	1	1	UPI00004C6F61	0	getma.org/pdb.php?prot=TRPC3_HUMAN&from=1&to=147&var=L32P	ENST00000379645		ENSG00000138741	12335		31	3.185		HGNC	p.L44P		TRPC3		SNV							ENST00000264811	protein_coding	getma.org/?cm=var&var=hg19,4,122854063,A,G&fts=all		hmmpanther:PTHR10117:SF8,hmmpanther:PTHR10117,Gene3D:1.25.40.20,TIGRFAM_domain:TIGR00870,SMART_domains:SM00248,Superfamily_domains:SSF48403		L/P		G	medium	424/3548		getma.org/?cm=msa&ty=f&p=TRPC3_HUMAN&rb=1&re=147&var=L32P	deleterious(0)	Q4W5P7_HUMAN,D6R902_HUMAN			YES	TRPC3,missense_variant,p.Leu44Pro,ENST00000264811,NM_003305.2;TRPC3,missense_variant,p.Leu117Pro,ENST00000379645,NM_001130698.1;TRPC3,missense_variant,p.Leu44Pro,ENST00000513531,;TRPC3,missense_variant,p.Leu44Pro,ENST00000502968,;TRPC3,missense_variant,p.Leu44Pro,ENST00000506449,;							MODERATE	350/2766	L32P	TRPC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368966		CCDS47130.1			1	
LRIT2	0	LGGM	GRCh37	10	85981837	85981837	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	39	4	.	.	ENST00000372113.4:c.1492C>T	p.Arg498Cys	p.R498C	ENST00000372113	NM_001017924.2	498	Cgc/Tgc	0	1	1	UPI00002374E4	0	NA	ENST00000372113		ENSG00000204033	23443	0.00026	43	0		HGNC	p.R498C	rs372043491,COSM1127990	LRIT2	0.000198	SNV	A:0					0,1	ENST00000372113	protein_coding	getma.org/?cm=var&var=hg19,10,85981837,G,A&fts=all				R/C	A:0.0001	A	neutral	1498/3081	4.64E-05	getma.org/?cm=msa&ty=f&p=LRIT2_HUMAN&rb=452&re=537&var=R498C	tolerated(0.15)				YES	LRIT2,missense_variant,p.Arg498Cys,ENST00000372113,NM_001017924.2;LRIT2,missense_variant,p.Arg508Cys,ENST00000538192,NM_001284223.1;CDHR1,downstream_gene_variant,,ENST00000372117,NM_033100.3;CDHR1,downstream_gene_variant,,ENST00000440770,;CDHR1,downstream_gene_variant,,ENST00000332904,NM_001171971.2;CDHR1,downstream_gene_variant,,ENST00000459673,;					0,1		MODERATE	1492/1653	R498C	LRIT2_HUMAN			Transcript		benign(0.001)	.	ENSP00000361185	7.41E-05	CCDS31234.1			1	
TULP2	0	LGGM	GRCh37	19	49391457	49391457	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	40	4	.	.	ENST00000221399.3:c.698C>T	p.Ala233Val	p.A233V	ENST00000221399	NM_003323.2	233	gCa/gTa	0	1	1	UPI0000071877	0	NA	ENST00000221399		ENSG00000104804	12424		44	-0.145		HGNC	p.A233V		TULP2		SNV							ENST00000221399	protein_coding	getma.org/?cm=var&var=hg19,19,49391457,G,A&fts=all		hmmpanther:PTHR16517:SF24,hmmpanther:PTHR16517		A/V		A	neutral	843/1754		getma.org/?cm=msa&ty=f&p=TULP2_HUMAN&rb=1&re=249&var=A233V	tolerated(0.33)	E5RHR0_HUMAN			YES	TULP2,missense_variant,p.Ala233Val,ENST00000221399,NM_003323.2;TULP2,missense_variant,p.Ala187Val,ENST00000518572,;TULP2,downstream_gene_variant,,ENST00000522945,;TULP2,downstream_gene_variant,,ENST00000520977,;							MODERATE	698/1563	A233V	TULP2_HUMAN			Transcript		benign(0.026)	.	ENSP00000221399		CCDS12739.1			1	
BCAT1	0	LGGM	GRCh37	12	25034256	25034256	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	49	4	.	.	ENST00000539282.1:c.405T>A	p.Ser135=	p.S135=	ENST00000539282	NM_001178093.1	135	tcT/tcA	0	1		UPI0000213DBE	0		ENST00000261192		ENSG00000060982	976		53			HGNC	p.S135S		BCAT1		SNV							ENST00000539282	protein_coding			Gene3D:3.30.470.10,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF29,Superfamily_domains:SSF56752,TIGRFAM_domain:TIGR01123		S		T		896/8335								BCAT1,synonymous_variant,p.=,ENST00000261192,NM_005504.6,NM_001178091.1;BCAT1,synonymous_variant,p.=,ENST00000538118,NM_001178094.1;BCAT1,synonymous_variant,p.=,ENST00000539282,NM_001178093.1;BCAT1,synonymous_variant,p.=,ENST00000546285,;BCAT1,intron_variant,,ENST00000342945,NM_001178092.1;BCAT1,intron_variant,,ENST00000539780,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;							LOW	369/1161		BCAT1_HUMAN			Transcript			.	ENSP00000261192		CCDS44845.1			1	
OR4D11	0	LGGM	GRCh37	11	59271086	59271086	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	38	4	.	.	ENST00000313253.1:c.38T>C	p.Ile13Thr	p.I13T	ENST00000313253	NM_001004706.1	13	aTa/aCa	0	1	1	UPI0000046486	0	getma.org/pdb.php?prot=OR4DB_HUMAN&from=1&to=139&var=I13T	ENST00000313253		ENSG00000176200	15174		42	1.765		HGNC	p.I13T		OR4D11		SNV							ENST00000313253	protein_coding	getma.org/?cm=var&var=hg19,11,59271086,T,C&fts=all		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF200,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		I/T		C	low	38/936		getma.org/?cm=msa&ty=f&p=OR4DB_HUMAN&rb=1&re=139&var=I13T	deleterious(0.03)				YES	OR4D11,missense_variant,p.Ile13Thr,ENST00000313253,NM_001004706.1;RNU6-779P,downstream_gene_variant,,ENST00000516609,;							MODERATE	38/936	I13T	OR4DB_HUMAN			Transcript		benign(0.003)	.	ENSP00000320077		CCDS31563.1			1	
MANSC4	0	LGGM	GRCh37	12	27924173	27924173	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	60	4	.	.	ENST00000381273.3:c.37C>T	p.Leu13Phe	p.L13F	ENST00000381273	NM_001146221.1	13	Ctc/Ttc	0	1	1	UPI00019912E6	0	NA	ENST00000381273		ENSG00000205693	40023		64	0.975		HGNC	p.L13F		MANSC4		SNV							ENST00000381273	protein_coding	getma.org/?cm=var&var=hg19,12,27924173,G,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR16021,hmmpanther:PTHR16021:SF10		L/F		A	low	37/1023		getma.org/?cm=msa&ty=f&p=MANS4_HUMAN&rb=1&re=200&var=L13F	tolerated(0.12)				YES	MANSC4,missense_variant,p.Leu13Phe,ENST00000381273,NM_001146221.1;							MODERATE	37/1023	L13F	MANS4_HUMAN			Transcript		benign(0.009)	.	ENSP00000370673		CCDS53770.1			1	
PCDHA10	0	LGGM	GRCh37	5	140235661	140235661	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	44	4	.	.	ENST00000307360.5:c.28G>A	p.Val10Ile	p.V10I	ENST00000307360	NM_018901.2	10	Gtc/Atc	0	1	1	UPI00001273D3	0	NA	ENST00000307360		ENSG00000250120	8664		48	0		HGNC	p.V10I		PCDHA10		SNV							ENST00000506939	protein_coding	getma.org/?cm=var&var=hg19,5,140235661,G,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028:SF76,hmmpanther:PTHR24028		V/I		A	neutral	28/5254		getma.org/?cm=msa&ty=f&p=PCDAA_HUMAN&rb=1&re=57&var=V10I	tolerated_low_confidence(0.33)				YES	PCDHA10,missense_variant,p.Val10Ile,ENST00000307360,NM_018901.2;PCDHA10,missense_variant,p.Val10Ile,ENST00000506939,NM_031860.1;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;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,;							MODERATE	28/2847	V10I	PCDAA_HUMAN			Transcript		benign(0.005)	.	ENSP00000304234		CCDS54921.1			1	
URGCP	0	LGGM	GRCh37	7	43917969	43917969	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	89	4	.	.	ENST00000453200.1:c.1093A>T	p.Ile365Phe	p.I365F	ENST00000453200		365	Atc/Ttc	0	1	1	UPI000020EE9D	0	NA	ENST00000453200		ENSG00000106608	30890		93	1.98		HGNC	p.I322F		URGCP		SNV							ENST00000443736	protein_coding	getma.org/?cm=var&var=hg19,7,43917969,T,A&fts=all		hmmpanther:PTHR22796		I/F		A	medium	1587/4042		getma.org/?cm=msa&ty=f&p=URGCP_HUMAN&rb=4&re=929&var=I365F	deleterious(0.04)	C9JKA8_HUMAN,C9J0W2_HUMAN			YES	URGCP,missense_variant,p.Ile322Phe,ENST00000336086,;URGCP,missense_variant,p.Ile365Phe,ENST00000453200,;URGCP,missense_variant,p.Ile322Phe,ENST00000223341,;URGCP,missense_variant,p.Ile322Phe,ENST00000443736,NM_001077663.1;URGCP,missense_variant,p.Ile356Phe,ENST00000402306,NM_017920.3;URGCP,missense_variant,p.Ile322Phe,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,;							MODERATE	1093/2796	I365F	URGCP_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000396918		CCDS47578.1			1	
SLC26A3	0	LGGM	GRCh37	7	107434279	107434279	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	57	4	.	.	ENST00000340010.5:c.179T>G	p.Ile60Arg	p.I60R	ENST00000340010	NM_000111.2	60	aTa/aGa	0	1	1	UPI000000128C	0	NA	ENST00000340010		ENSG00000091138	3018		61	3.375		HGNC	p.I60R		SLC26A3		SNV			1				ENST00000340010	protein_coding	getma.org/?cm=var&var=hg19,7,107434279,A,C&fts=all		Pfam_domain:PF13792,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF19,TIGRFAM_domain:TIGR00815		I/R		C	medium	364/2863		getma.org/?cm=msa&ty=f&p=S26A3_HUMAN&rb=58&re=141&var=I60R	deleterious(0)	Q75N04_HUMAN,C9JFJ2_HUMAN			YES	SLC26A3,missense_variant,p.Ile60Arg,ENST00000340010,NM_000111.2;SLC26A3,missense_variant,p.Ile60Arg,ENST00000453332,;SLC26A3,splice_region_variant,,ENST00000422236,;SLC26A3,splice_region_variant,,ENST00000379083,;							MODERATE	179/2295	I60R	S26A3_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000345873		CCDS5748.1			1	
SLC8A1	0	LGGM	GRCh37	2	40342536	40342536	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	50	4	.	.	ENST00000403092.1:c.2779T>A	p.Tyr927Asn	p.Y927N	ENST00000403092		927	Tat/Aat	0	1		UPI000012FC46	0	NA	ENST00000332839		ENSG00000183023	11068		54	1.87		HGNC	p.Y891N		SLC8A1		SNV							ENST00000402441	protein_coding	getma.org/?cm=var&var=hg19,2,40342536,A,T&fts=all		Pfam_domain:PF01699,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,TIGRFAM_domain:TIGR00845,Transmembrane_helices:TMhelix		Y/N		T	low	2779/2922		getma.org/?cm=msa&ty=f&p=NAC1_HUMAN&rb=809&re=962&var=Y927N	deleterious(0.02)	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN				SLC8A1,missense_variant,p.Tyr891Asn,ENST00000406785,;SLC8A1,missense_variant,p.Tyr922Asn,ENST00000542756,;SLC8A1,missense_variant,p.Tyr927Asn,ENST00000403092,;SLC8A1,missense_variant,p.Tyr922Asn,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Tyr891Asn,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Tyr891Asn,ENST00000405269,;SLC8A1,missense_variant,p.Tyr927Asn,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Tyr919Asn,ENST00000408028,NM_001252624.1;SLC8A1,missense_variant,p.Tyr891Asn,ENST00000542024,;SLC8A1,missense_variant,p.Tyr891Asn,ENST00000406391,;SLC8A1-AS1,intron_variant,,ENST00000444629,;SLC8A1-AS1,intron_variant,,ENST00000593848,;SLC8A1-AS1,intron_variant,,ENST00000598247,;SLC8A1-AS1,intron_variant,,ENST00000593878,;SLC8A1-AS1,intron_variant,,ENST00000596532,;SLC8A1-AS1,intron_variant,,ENST00000599268,;SLC8A1-AS1,intron_variant,,ENST00000601679,;SLC8A1-AS1,intron_variant,,ENST00000435515,;SLC8A1-AS1,intron_variant,,ENST00000597385,;SLC8A1-AS1,intron_variant,,ENST00000599956,;SLC8A1-AS1,intron_variant,,ENST00000597170,;SLC8A1-AS1,intron_variant,,ENST00000599740,;SLC8A1,3_prime_UTR_variant,,ENST00000407929,;							MODERATE	2779/2922	Y927N	NAC1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000332931		CCDS1806.1			1	
TCF12	0	LGGM	GRCh37	15	57355950	57355950	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	62	4	.	.	ENST00000438423.2:c.151A>G	p.Ile51Val	p.I51V	ENST00000438423	NM_207037.1	51	Att/Gtt	0	1		UPI000003B45E	0	NA	ENST00000267811		ENSG00000140262	11623		66	0.2		HGNC	p.I51V		TCF12		SNV			1				ENST00000557947	protein_coding	getma.org/?cm=var&var=hg19,15,57355950,A,G&fts=all		hmmpanther:PTHR11793:SF11,hmmpanther:PTHR11793		I/V		G	neutral	455/6061		getma.org/?cm=msa&ty=f&p=HTF4_HUMAN&rb=1&re=200&var=I51V	tolerated(0.27)	Q9NQY9_HUMAN,Q9NQY7_HUMAN,Q9NQY6_HUMAN,Q9NQY5_HUMAN,Q9NQY4_HUMAN,Q9NQY2_HUMAN,Q9NQY1_HUMAN,H0YNQ5_HUMAN				TCF12,missense_variant,p.Ile51Val,ENST00000267811,NM_003205.3,NM_207038.1;TCF12,missense_variant,p.Ile51Val,ENST00000438423,NM_207037.1,NM_207036.1;TCF12,missense_variant,p.Ile51Val,ENST00000333725,;TCF12,missense_variant,p.Ile51Val,ENST00000557843,;TCF12,missense_variant,p.Ile51Val,ENST00000557947,;TCF12,intron_variant,,ENST00000452095,;TCF12,intron_variant,,ENST00000559609,;TCF12,splice_region_variant,,ENST00000558908,;TCF12,intron_variant,,ENST00000560190,;TCF12,non_coding_transcript_exon_variant,,ENST00000569880,;TCF12,intron_variant,,ENST00000561152,;							MODERATE	151/2049	I51V	HTF4_HUMAN			Transcript		benign(0.003)	.	ENSP00000267811		CCDS10159.1			1	
ADAMTS7	0	LGGM	GRCh37	15	79090429	79090429	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	21	4	.	.	ENST00000388820.4:c.483G>A	p.Glu161=	p.E161=	ENST00000388820	NM_014272.3	161	gaG/gaA	0	1	1	UPI00002263B3	0		ENST00000388820		ENSG00000136378	223		25			HGNC	p.E161E		ADAMTS7		SNV							ENST00000388820	protein_coding			Pfam_domain:PF01562,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142		E		T		694/5490							YES	ADAMTS7,synonymous_variant,p.=,ENST00000388820,NM_014272.3;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;							LOW	483/5061		ATS7_HUMAN			Transcript			.	ENSP00000373472		CCDS32303.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43817635	43817635	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	36	4	.	.	ENST00000389420.3:c.4284+1682G>A		*1428*	ENST00000389420	NM_025003.3			0	1	1	UPI00004565F4	0		ENST00000389420		ENSG00000173157	17178		40			HGNC	p.M589I		ADAMTS20		SNV							ENST00000549670	protein_coding							T		-/6076							YES	ADAMTS20,missense_variant,p.Met1459Ile,ENST00000553158,;ADAMTS20,missense_variant,p.Met589Ile,ENST00000549670,;ADAMTS20,missense_variant,p.Met577Ile,ENST00000395541,;ADAMTS20,intron_variant,,ENST00000389420,NM_025003.3;							MODIFIER	-/5733		ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
KIF2B	0	LGGM	GRCh37	17	51900796	51900796	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	64	4	.	.	ENST00000268919.4:c.402G>T	p.Arg134Ser	p.R134S	ENST00000268919	NM_032559.4	134	agG/agT	0	1	1	UPI000013D7E6	0	NA	ENST00000268919		ENSG00000141200	29443		68	1.15		HGNC	p.R134S	COSM3970163	KIF2B		SNV						1	ENST00000268919	protein_coding	getma.org/?cm=var&var=hg19,17,51900796,G,T&fts=all				R/S		T	low	558/2335		getma.org/?cm=msa&ty=f&p=KIF2B_HUMAN&rb=1&re=200&var=R134S	tolerated(0.62)				YES	KIF2B,missense_variant,p.Arg134Ser,ENST00000268919,NM_032559.4;					1		MODERATE	402/2022	R134S	KIF2B_HUMAN			Transcript		benign(0.035)	.	ENSP00000268919		CCDS32685.1			1	
RUNX2	0	LGGM	GRCh37	6	45459831	45459831	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	38	4	.	.	ENST00000371438.1:c.839A>T	p.Gln280Leu	p.Q280L	ENST00000371438	NM_001024630.3	280	cAa/cTa	0	1	1	UPI000013532F	0	NA	ENST00000371438		ENSG00000124813	10472		42	2.175		HGNC	p.Q348L		RUNX2		SNV			1				ENST00000352853	protein_coding	getma.org/?cm=var&var=hg19,6,45459831,A,T&fts=all		PIRSF_domain:PIRSF009374,hmmpanther:PTHR11950,hmmpanther:PTHR11950:SF7		Q/L		T	medium	1197/5698		getma.org/?cm=msa&ty=f&p=RUNX2_HUMAN&rb=234&re=426&var=Q280L	deleterious(0.02)	U3RG86_HUMAN			YES	RUNX2,missense_variant,p.Gln280Leu,ENST00000371438,NM_001024630.3;RUNX2,missense_variant,p.Gln266Leu,ENST00000371432,NM_001278478.1;RUNX2,missense_variant,p.Gln266Leu,ENST00000359524,;RUNX2,missense_variant,p.Gln280Leu,ENST00000576263,;RUNX2,missense_variant,p.Gln280Leu,ENST00000465038,;RUNX2,missense_variant,p.Gln348Leu,ENST00000352853,;RUNX2,missense_variant,p.Gln348Leu,ENST00000541979,NM_001015051.3;RUNX2,missense_variant,p.Gln280Leu,ENST00000371436,;RUNX2,3_prime_UTR_variant,,ENST00000483377,;RUNX2,intron_variant,,ENST00000478660,;							MODERATE	839/1566	Q280L	RUNX2_HUMAN			Transcript		benign(0.01)	.	ENSP00000360493		CCDS43467.2			1	
MGEA5	0	LGGM	GRCh37	10	103558790	103558790	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	84	4	.	.	ENST00000361464.3:c.1618C>T	p.Pro540Ser	p.P540S	ENST00000361464	NM_012215.3	540	Cca/Tca	0	1	1	UPI0000073533	0	NA	ENST00000361464		ENSG00000198408	7056		88	0.625		HGNC	p.P487S	COSM4011154,COSM4011155	MGEA5		SNV						1,1	ENST00000357797	protein_coding	getma.org/?cm=var&var=hg19,10,103558790,G,A&fts=all		hmmpanther:PTHR13170,hmmpanther:PTHR13170:SF16		P/S		A	neutral	2014/5146		getma.org/?cm=msa&ty=f&p=NCOAT_HUMAN&rb=365&re=564&var=P540S	tolerated(0.25)	B3KMK2_HUMAN			YES	MGEA5,missense_variant,p.Pro540Ser,ENST00000361464,NM_012215.3;MGEA5,missense_variant,p.Pro487Ser,ENST00000439817,NM_001142434.1;MGEA5,missense_variant,p.Pro540Ser,ENST00000370094,;MGEA5,missense_variant,p.Pro487Ser,ENST00000357797,;MGEA5,downstream_gene_variant,,ENST00000429860,;MGEA5,non_coding_transcript_exon_variant,,ENST00000482611,;MGEA5,upstream_gene_variant,,ENST00000479811,;MGEA5,upstream_gene_variant,,ENST00000492204,;					1,1		MODERATE	1618/2751	P540S	NCOAT_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000354850		CCDS7520.1			1	
FBXO16	0	LGGM	GRCh37	8	28340886	28340886	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	71	4	.	.	ENST00000380254.2:c.78C>A	p.Asn26Lys	p.N26K	ENST00000380254	NM_172366.3	26	aaC/aaA	0	1	1	UPI0000074424	0	NA	ENST00000380254		ENSG00000214050	13618		75	1.52		HGNC	p.N26K		FBXO16		SNV							ENST00000517673	protein_coding	getma.org/?cm=var&var=hg19,8,28340886,G,T&fts=all		hmmpanther:PTHR22844,hmmpanther:PTHR22844:SF168		N/K		T	low	227/1343		getma.org/?cm=msa&ty=f&p=FBX16_HUMAN&rb=1&re=88&var=N26K	deleterious(0.01)				YES	FBXO16,missense_variant,p.Asn26Lys,ENST00000380254,NM_172366.3,NM_001258211.1;FBXO16,missense_variant,p.Asn26Lys,ENST00000346498,;FBXO16,missense_variant,p.Asn26Lys,ENST00000518734,;FBXO16,missense_variant,p.Asn26Lys,ENST00000517673,;FBXO16,missense_variant,p.Asn26Lys,ENST00000519471,;FBXO16,intron_variant,,ENST00000517436,;FBXO16,missense_variant,p.Asn26Lys,ENST00000521548,;							MODERATE	78/879	N26K	FBX16_HUMAN			Transcript		possibly_damaging(0.758)	.	ENSP00000369604		CCDS6068.1			1	
CDHR1	0	LGGM	GRCh37	10	85955328	85955328	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	11	4	.	.	ENST00000372117.3:c.134C>G	p.Pro45Arg	p.P45R	ENST00000372117	NM_033100.3	45	cCa/cGa	0	1	1	UPI0000161C2F	0	getma.org/pdb.php?prot=CDHR1_HUMAN&from=40&to=125&var=P45R	ENST00000372117		ENSG00000148600	14550		15	0.805		HGNC	p.P45R		CDHR1		SNV			1				ENST00000332904	protein_coding	getma.org/?cm=var&var=hg19,10,85955328,C,G&fts=all		Superfamily_domains:SSF49313,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF2,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		P/R		G	low	237/5428		getma.org/?cm=msa&ty=f&p=CDHR1_HUMAN&rb=40&re=125&var=P45R	tolerated(0.15)	F1T0L2_HUMAN			YES	CDHR1,missense_variant,p.Pro45Arg,ENST00000372117,NM_033100.3;CDHR1,missense_variant,p.Pro45Arg,ENST00000332904,NM_001171971.2;							MODERATE	134/2580	P45R	CDHR1_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000361189		CCDS7372.1			1	
ACE2	0	LGGM	GRCh37	X	15599500	15599500	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	93	5	.	.	ENST00000427411.1:c.914A>T	p.Gln305Leu	p.Q305L	ENST00000427411	NM_021804.2	305	cAg/cTg	0	1		UPI000000D907	0	getma.org/pdb.php?prot=ACE2_HUMAN&from=13&to=613&var=Q305L	ENST00000252519		ENSG00000130234	13557		98	-0.24		HGNC	p.Q305L		ACE2		SNV							ENST00000427411	protein_coding	getma.org/?cm=var&var=hg19,X,15599500,T,A&fts=all		hmmpanther:PTHR10514:SF24,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486		Q/L		A	neutral	1017/3393		getma.org/?cm=msa&ty=f&p=ACE2_HUMAN&rb=13&re=613&var=Q305L	tolerated(0.33)					ACE2,missense_variant,p.Gln305Leu,ENST00000427411,NM_021804.2;ACE2,missense_variant,p.Gln305Leu,ENST00000252519,;							MODERATE	914/2418	Q305L	ACE2_HUMAN			Transcript		benign(0)	.	ENSP00000252519		CCDS14169.1			1	
ANKRD55	0	LGGM	GRCh37	5	55439627	55439627	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	100	5	.	.	ENST00000341048.4:c.612+1G>A		p.X204_splice	ENST00000341048	NM_024669.2			0	1	1	UPI00004572EF	0		ENST00000341048		ENSG00000164512	25681		105			HGNC	p.V176M		ANKRD55		SNV			1				ENST00000513241	protein_coding							T		-/2500							YES	ANKRD55,splice_donor_variant,,ENST00000341048,NM_024669.2;ANKRD55,missense_variant,p.Val176Met,ENST00000513241,;ANKRD55,intron_variant,,ENST00000504958,;RNA5SP184,downstream_gene_variant,,ENST00000411071,;ANKRD55,splice_donor_variant,,ENST00000505970,;							HIGH	612/1845		ANR55_HUMAN			Transcript			.	ENSP00000342295		CCDS34161.1			1	
LRP6	0	LGGM	GRCh37	12	12291887	12291887	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	19	5	.	.	ENST00000261349.4:c.3398-419A>G		*1133*	ENST00000261349	NM_002336.2			0	1	1	UPI00001FB66C	0		ENST00000261349		ENSG00000070018	6698		24			HGNC	p.X277Q	rs527379503	LRP6		SNV			1	0.000117			ENST00000298566	protein_coding		G:0					C		-/10020	4.09E-05			F5H0Z3_HUMAN,B3KQA9_HUMAN	G:0	G:0	YES	BCL2L14,stop_lost,p.Ter277GlnextTer?,ENST00000396369,;LRP6,intron_variant,,ENST00000261349,NM_002336.2;LRP6,intron_variant,,ENST00000543091,;LRP6,upstream_gene_variant,,ENST00000540415,;BCL2L14,stop_lost,p.Ter277GlnextTer3,ENST00000298566,;LRP6,intron_variant,,ENST00000538239,;		G:0.0002					MODIFIER	-/4842		LRP6_HUMAN		G:0	Transcript			.	ENSP00000261349	2.47E-05	CCDS8647.1		G:0.001	1	
APOOL	0	LGGM	GRCh37	X	84301482	84301482	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	91	5	.	.	ENST00000373173.2:c.46C>G	p.Leu16Val	p.L16V	ENST00000373173	NM_198450.5	16	Ctg/Gtg	0	1	1	UPI00001D6936	0	NA	ENST00000373173		ENSG00000155008	24009		96	2.28		HGNC	p.L16V		APOOL		SNV							ENST00000373173	protein_coding	getma.org/?cm=var&var=hg19,X,84301482,C,G&fts=all		hmmpanther:PTHR14564,hmmpanther:PTHR14564:SF3		L/V		G	medium	133/1279		getma.org/?cm=msa&ty=f&p=APOOL_HUMAN&rb=1&re=55&var=L16V	tolerated(0.06)				YES	APOOL,missense_variant,p.Leu16Val,ENST00000373173,NM_198450.5;							MODERATE	46/807	L16V	APOOL_HUMAN			Transcript		benign(0.129)	.	ENSP00000362268		CCDS48138.1			1	
ZFPL1	0	LGGM	GRCh37	11	64854053	64854053	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	63	5	.	.	ENST00000294258.3:c.381G>T	p.Trp127Cys	p.W127C	ENST00000294258	NM_006782.3	127	tgG/tgT	0	1	1	UPI000007347E	0	NA	ENST00000294258		ENSG00000162300	12868		68	2.94		HGNC	p.W127C		ZFPL1		SNV							ENST00000294258	protein_coding	getma.org/?cm=var&var=hg19,11,64854053,G,T&fts=all		hmmpanther:PTHR12981,hmmpanther:PTHR12981:SF0		W/C		T	medium	533/1369		getma.org/?cm=msa&ty=f&p=ZFPL1_HUMAN&rb=1&re=139&var=W127C	deleterious(0)	E9PQ47_HUMAN,E9PNY1_HUMAN			YES	ZFPL1,missense_variant,p.Trp127Cys,ENST00000294258,NM_006782.3;ZFPL1,missense_variant,p.Trp127Cys,ENST00000532200,;ZFPL1,missense_variant,p.Trp127Cys,ENST00000526334,;ZFPL1,missense_variant,p.Trp121Cys,ENST00000526945,;ZFPL1,intron_variant,,ENST00000530488,;CDCA5,upstream_gene_variant,,ENST00000275517,NM_080668.3;CDCA5,upstream_gene_variant,,ENST00000404147,;VPS51,upstream_gene_variant,,ENST00000528588,;TMEM262,downstream_gene_variant,,ENST00000530719,NM_001282448.1;ZFPL1,downstream_gene_variant,,ENST00000525509,;TMEM262,downstream_gene_variant,,ENST00000524603,;TMEM262,downstream_gene_variant,,ENST00000524632,NM_001242631.1;ZFPL1,downstream_gene_variant,,ENST00000526791,;TMEM262,downstream_gene_variant,,ENST00000525544,;ZFPL1,3_prime_UTR_variant,,ENST00000453524,;ZFPL1,3_prime_UTR_variant,,ENST00000531761,;TMEM262,non_coding_transcript_exon_variant,,ENST00000528029,;ZFPL1,non_coding_transcript_exon_variant,,ENST00000528123,;ZFPL1,intron_variant,,ENST00000530744,;ZFPL1,downstream_gene_variant,,ENST00000533216,;CDCA5,upstream_gene_variant,,ENST00000479032,;ZFPL1,downstream_gene_variant,,ENST00000526289,;CDCA5,upstream_gene_variant,,ENST00000531401,;CDCA5,upstream_gene_variant,,ENST00000524733,;ZFPL1,downstream_gene_variant,,ENST00000526440,;CDCA5,upstream_gene_variant,,ENST00000527430,;TMEM262,downstream_gene_variant,,ENST00000334821,;CDCA5,upstream_gene_variant,,ENST00000462902,;CDCA5,upstream_gene_variant,,ENST00000533015,;							MODERATE	381/933	W127C	ZFPL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000294258		CCDS8092.1			1	
TOR3A	0	LGGM	GRCh37	1	179057204	179057204	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	45	5	.	.	ENST00000367627.3:c.798G>A	p.Trp266Ter	p.W266*	ENST00000367627	NM_022371.3	266	tgG/tgA	0	1	1	UPI000006F204	0	NA	ENST00000367627		ENSG00000186283	11997		50	0		HGNC	p.W266X		TOR3A		SNV							ENST00000367627	protein_coding	getma.org/?cm=var&var=hg19,1,179057204,G,A&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR10760,hmmpanther:PTHR10760:SF3,Superfamily_domains:SSF52540		W/*		A	NA	1550/2724		NA					YES	TOR3A,stop_gained,p.Trp266Ter,ENST00000367627,NM_022371.3;TOR3A,stop_gained,p.Trp266Ter,ENST00000352445,;TOR3A,stop_gained,p.Trp158Ter,ENST00000447595,;TOR3A,downstream_gene_variant,,ENST00000367625,;TOR3A,non_coding_transcript_exon_variant,,ENST00000495145,;TOR3A,non_coding_transcript_exon_variant,,ENST00000472001,;TOR3A,3_prime_UTR_variant,,ENST00000483887,;							HIGH	798/1194	W266*	TOR3A_HUMAN			Transcript			.	ENSP00000356599		CCDS1329.1			1	
PTPN23	0	LGGM	GRCh37	3	47448838	47448838	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	69	5	.	.	ENST00000265562.4:c.904A>G	p.Met302Val	p.M302V	ENST00000265562	NM_015466.2	302	Atg/Gtg	0	1	1	UPI000006EBC4	0	getma.org/pdb.php?prot=PTN23_HUMAN&from=8&to=384&var=M302V	ENST00000265562		ENSG00000076201	14406	8.64E-05	74	1.445		HGNC	p.M176V	rs748601492	PTPN23		SNV							ENST00000431726	protein_coding	getma.org/?cm=var&var=hg19,3,47448838,A,G&fts=all		PROSITE_profiles:PS51180,hmmpanther:PTHR19134:SF27,hmmpanther:PTHR19134,Pfam_domain:PF03097,Gene3D:2xs1A01,SMART_domains:SM01041		M/V		G	low	981/5244	4.50E-05	getma.org/?cm=msa&ty=f&p=PTN23_HUMAN&rb=8&re=384&var=M302V		B4DST5_HUMAN			YES	PTPN23,missense_variant,p.Met302Val,ENST00000265562,NM_015466.2;PTPN23,missense_variant,p.Met176Val,ENST00000431726,;PTPN23,downstream_gene_variant,,ENST00000456221,;PTPN23,3_prime_UTR_variant,,ENST00000602307,;PTPN23,downstream_gene_variant,,ENST00000477276,;PTPN23,upstream_gene_variant,,ENST00000495653,;	0.000116						MODERATE	904/4911	M302V	PTN23_HUMAN			Transcript		unknown(0)	.	ENSP00000265562	4.12E-05	CCDS2754.1			1	
MDM1	0	LGGM	GRCh37	12	68719348	68719348	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	112	5	.	.	ENST00000303145.7:c.506G>C	p.Arg169Thr	p.R169T	ENST00000303145	NM_017440.4	169	aGa/aCa	0	1	1	UPI00001FC70C	0	NA	ENST00000303145		ENSG00000111554	29917		117	2.36		HGNC	p.R169T		MDM1		SNV							ENST00000303145	protein_coding	getma.org/?cm=var&var=hg19,12,68719348,C,G&fts=all		Pfam_domain:PF15501,hmmpanther:PTHR32078		R/T		G	medium	593/2918		getma.org/?cm=msa&ty=f&p=MDM1_HUMAN&rb=1&re=712&var=R169T	deleterious(0.01)	F5H804_HUMAN			YES	MDM1,missense_variant,p.Arg169Thr,ENST00000303145,NM_017440.4;MDM1,missense_variant,p.Arg164Thr,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,;							MODERATE	506/2145	R169T	MDM1_HUMAN			Transcript		benign(0.133)	.	ENSP00000302537		CCDS8983.1			1	
NPC1L1	0	LGGM	GRCh37	7	44556361	44556361	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	9	5	.	.	ENST00000289547.4:c.3541G>T	p.Gly1181Cys	p.G1181C	ENST00000289547	NM_013389.2	1181	Ggc/Tgc	0	1	1	UPI000013DF88	0	NA	ENST00000289547		ENSG00000015520	7898		14	3.17		HGNC	p.G1181C		NPC1L1		SNV			1				ENST00000289547	protein_coding	getma.org/?cm=var&var=hg19,7,44556361,C,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF82866,Gene3D:2j8sB01,Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89		G/C		A	medium	3597/5048		getma.org/?cm=msa&ty=f&p=NPCL1_HUMAN&rb=1091&re=1294&var=G1181C	deleterious(0)				YES	NPC1L1,missense_variant,p.Gly1181Cys,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Gly1154Cys,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Gly1108Cys,ENST00000546276,;							MODERATE	3541/4080	G1181C	NPCL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000289547		CCDS5491.1			1	
SLC16A1	0	LGGM	GRCh37	1	113459997	113459997	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	29	5	.	.	ENST00000538576.1:c.1031A>T	p.His344Leu	p.H344L	ENST00000538576	NM_001166496.1	344	cAt/cTt	0	1		UPI00000012F5	0	NA	ENST00000369626		ENSG00000155380	10922		34	2.37		HGNC	p.H344L		SLC16A1		SNV			1				ENST00000369626	protein_coding	getma.org/?cm=var&var=hg19,1,113459997,T,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF24,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00892,Transmembrane_helices:TMhelix		H/L		A	medium	1394/3910		getma.org/?cm=msa&ty=f&p=MOT1_HUMAN&rb=328&re=486&var=H344L	deleterious(0)	Q5T8R5_HUMAN,Q5T8R4_HUMAN,Q5T8R3_HUMAN				SLC16A1,missense_variant,p.His344Leu,ENST00000538576,NM_001166496.1;SLC16A1,missense_variant,p.His344Leu,ENST00000369626,NM_003051.3;SLC16A1,missense_variant,p.His344Leu,ENST00000433570,;SLC16A1,missense_variant,p.His344Leu,ENST00000458229,;SLC16A1,downstream_gene_variant,,ENST00000443580,;SLC16A1,downstream_gene_variant,,ENST00000429288,;SLC16A1,downstream_gene_variant,,ENST00000481750,;							MODERATE	1031/1503	H344L	MOT1_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000358640		CCDS858.1			1	
MXRA5	0	LGGM	GRCh37	X	3248316	3248316	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	11	5	.	.	ENST00000217939.6:c.452C>A	p.Thr151Lys	p.T151K	ENST00000217939	NM_015419.3	151	aCg/aAg	0	1	1	UPI000013C73B	0	getma.org/pdb.php?prot=MXRA5_HUMAN&from=107&to=163&var=T151K	ENST00000217939		ENSG00000101825	7539		16	0.75		HGNC	p.T151K	rs368770345	MXRA5		SNV	T:0						ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3248316,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF582,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,Superfamily_domains:SSF52058		T/K	T:0.0001	T	neutral	607/9793	6.61E-05	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=107&re=163&var=T151K	deleterious(0)				YES	MXRA5,missense_variant,p.Thr151Lys,ENST00000217939,NM_015419.3;							MODERATE	452/8487	T151K	MXRA5_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000217939	2.47E-05	CCDS14124.1			1	
HDAC6	0	LGGM	GRCh37	X	48681955	48681955	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	25	5	.	.	ENST00000334136.5:c.3146T>A	p.Leu1049Gln	p.L1049Q	ENST00000334136		1049	cTg/cAg	0	1	1	UPI0000073E04	0	NA	ENST00000334136		ENSG00000094631	14064		30	0.805		HGNC	p.L1063Q		HDAC6		SNV			1				ENST00000444343	protein_coding	getma.org/?cm=var&var=hg19,X,48681955,T,A&fts=all		hmmpanther:PTHR10625:SF102,hmmpanther:PTHR10625		L/Q		A	low	3324/4190		getma.org/?cm=msa&ty=f&p=HDAC6_HUMAN&rb=858&re=1096&var=L1049Q	tolerated(0.19)	E9PEH1_HUMAN,E7ER52_HUMAN,E7EP63_HUMAN,C9JEF4_HUMAN,C9J172_HUMAN,A6NDI8_HUMAN			YES	HDAC6,missense_variant,p.Leu1049Gln,ENST00000334136,;HDAC6,missense_variant,p.Leu1049Gln,ENST00000376619,NM_006044.2;HDAC6,missense_variant,p.Leu1063Gln,ENST00000444343,;HDAC6,missense_variant,p.Leu10Gln,ENST00000430858,;HDAC6,downstream_gene_variant,,ENST00000486665,;HDAC6,downstream_gene_variant,,ENST00000498808,;HDAC6,downstream_gene_variant,,ENST00000480525,;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,;							MODERATE	3146/3648	L1049Q	HDAC6_HUMAN			Transcript		benign(0.052)	.	ENSP00000334061		CCDS14306.1			1	
SLC30A5	0	LGGM	GRCh37	5	68409030	68409030	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	11	6	.	.	ENST00000396591.3:c.511C>G	p.Leu171Val	p.L171V	ENST00000396591	NM_022902.4	171	Ctc/Gtc	0	1	1	UPI0000073958	0	NA	ENST00000396591		ENSG00000145740	19089		17	1.5		HGNC	p.L171V		SLC30A5		SNV							ENST00000396591	protein_coding	getma.org/?cm=var&var=hg19,5,68409030,C,G&fts=all		hmmpanther:PTHR11562,hmmpanther:PTHR11562:SF24		L/V		G	low	1121/4360		getma.org/?cm=msa&ty=f&p=ZNT5_HUMAN&rb=1&re=200&var=L171V	tolerated(0.29)	Q9H9X0_HUMAN,Q9BY48_HUMAN,Q9BTR6_HUMAN			YES	SLC30A5,missense_variant,p.Leu171Val,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,;							MODERATE	511/2298	L171V	ZNT5_HUMAN			Transcript		benign(0.036)	.	ENSP00000379836		CCDS3996.1			1	
AKAP9	0	LGGM	GRCh37	7	91691656	91691656	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	109	6	.	.	ENST00000356239.3:c.5833A>G	p.Ile1945Val	p.I1945V	ENST00000356239	NM_147185.2	1945	Ata/Gta	0	1	1	UPI000002A38D	0	NA	ENST00000356239		ENSG00000127914	379	8.68E-05	115	1.725		HGNC	p.I1945V	rs765081318	AKAP9		SNV			1				ENST00000356239	protein_coding	getma.org/?cm=var&var=hg19,7,91691656,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10		I/V		G	low	6066/12471	4.50E-05	getma.org/?cm=msa&ty=f&p=AKAP9_HUMAN&rb=922&re=2074&var=I1957V		Q8IW64_HUMAN			YES	AKAP9,missense_variant,p.Ile1957Val,ENST00000359028,;AKAP9,missense_variant,p.Ile1945Val,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Ile1957Val,ENST00000358100,;AKAP9,non_coding_transcript_exon_variant,,ENST00000491695,;	0.000116						MODERATE	5833/11724	I1957V	AKAP9_HUMAN			Transcript		possibly_damaging(0.707)	.	ENSP00000348573	4.12E-05	CCDS5622.1			1	
PCLO	0	LGGM	GRCh37	7	82784448	82784448	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	113	6	.	.	ENST00000333891.9:c.1509G>A	p.Gln503=	p.Q503=	ENST00000333891	NM_033026.5	503	caG/caA	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		119			HGNC	p.Q503Q	rs756781286	PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		Q		T		1847/20329	1.55E-05						YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;							LOW	1509/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319	8.28E-06	CCDS47630.1			1	
TRPC6	0	LGGM	GRCh37	11	101375511	101375511	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	57	6	.	.	ENST00000344327.3:c.189A>T	p.Arg63Ser	p.R63S	ENST00000344327	NM_004621.5	63	agA/agT	0	1	1	UPI00001374BA	0	NA	ENST00000344327		ENSG00000137672	12338		63	0.09		HGNC	p.R63S		TRPC6		SNV			1				ENST00000344327	protein_coding	getma.org/?cm=var&var=hg19,11,101375511,T,A&fts=all		hmmpanther:PTHR10117,hmmpanther:PTHR10117:SF7		R/S		A	neutral	614/4612		getma.org/?cm=msa&ty=f&p=TRPC6_HUMAN&rb=1&re=101&var=R63S	tolerated_low_confidence(0.32)	B3KNL3_HUMAN			YES	TRPC6,missense_variant,p.Arg63Ser,ENST00000344327,NM_004621.5;TRPC6,missense_variant,p.Arg63Ser,ENST00000532133,;TRPC6,missense_variant,p.Arg63Ser,ENST00000360497,;TRPC6,missense_variant,p.Arg63Ser,ENST00000348423,;TRPC6,non_coding_transcript_exon_variant,,ENST00000526713,;TRPC6,upstream_gene_variant,,ENST00000527240,;							MODERATE	189/2796	R63S	TRPC6_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000340913		CCDS8311.1			1	
PRMT3	0	LGGM	GRCh37	11	20429543	20429543	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	18	6	.	.	ENST00000331079.6:c.858A>G	p.Gln286=	p.Q286=	ENST00000331079	NM_005788.3	286	caA/caG	0	1	1	UPI0000198DED	0		ENST00000331079		ENSG00000185238	30163		24			HGNC	p.Q286Q		PRMT3		SNV							ENST00000331079	protein_coding			PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF45,hmmpanther:PTHR11006,Gene3D:3.40.50.150,Pfam_domain:PF06325,Superfamily_domains:SSF53335		Q		G		1075/2653							YES	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,;							LOW	858/1596		ANM3_HUMAN			Transcript			.	ENSP00000331879		CCDS7853.1			1	
WDR6	0	LGGM	GRCh37	3	49052122	49052122	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	87	6	.	.	ENST00000395474.3:c.2963A>G	p.Glu988Gly	p.E988G	ENST00000395474	NM_018031.3	988	gAg/gGg	0	1		UPI0000138EDD	0	NA	ENST00000608424		ENSG00000178252	12758		93	2.015		HGNC	p.E406G		WDR6		SNV							ENST00000415265	protein_coding	getma.org/?cm=var&var=hg19,3,49052122,A,G&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR14344,Superfamily_domains:SSF50978		E/G		G	medium	2912/4070		getma.org/?cm=msa&ty=f&p=WDR6_HUMAN&rb=927&re=969&var=E958G	tolerated(0.2)	Q8NDH0_HUMAN,Q6PKC6_HUMAN,Q6AZD6_HUMAN,E9PDU5_HUMAN				WDR6,missense_variant,p.Glu988Gly,ENST00000395474,NM_018031.3;WDR6,missense_variant,p.Glu958Gly,ENST00000608424,;WDR6,missense_variant,p.Glu907Gly,ENST00000448293,;WDR6,missense_variant,p.Glu406Gly,ENST00000415265,;DALRD3,downstream_gene_variant,,ENST00000440857,;DALRD3,downstream_gene_variant,,ENST00000313778,NM_018114.5;DALRD3,downstream_gene_variant,,ENST00000341949,NM_001009996.2;DALRD3,downstream_gene_variant,,ENST00000441576,NM_001276405.1;DALRD3,downstream_gene_variant,,ENST00000395462,;DALRD3,downstream_gene_variant,,ENST00000420952,;WDR6,downstream_gene_variant,,ENST00000438660,;DALRD3,downstream_gene_variant,,ENST00000438585,;WDR6,downstream_gene_variant,,ENST00000489427,;WDR6,downstream_gene_variant,,ENST00000429900,;WDR6,downstream_gene_variant,,ENST00000419837,;WDR6,downstream_gene_variant,,ENST00000491365,;WDR6,downstream_gene_variant,,ENST00000489684,;DALRD3,downstream_gene_variant,,ENST00000496568,;DALRD3,downstream_gene_variant,,ENST00000492585,;WDR6,downstream_gene_variant,,ENST00000472878,;WDR6,downstream_gene_variant,,ENST00000461687,;WDR6,3_prime_UTR_variant,,ENST00000452875,;WDR6,3_prime_UTR_variant,,ENST00000420783,;WDR6,non_coding_transcript_exon_variant,,ENST00000471162,;WDR6,non_coding_transcript_exon_variant,,ENST00000498023,;WDR6,non_coding_transcript_exon_variant,,ENST00000492780,;DALRD3,downstream_gene_variant,,ENST00000498794,;DALRD3,downstream_gene_variant,,ENST00000460505,;DALRD3,downstream_gene_variant,,ENST00000484831,;DALRD3,downstream_gene_variant,,ENST00000467457,;DALRD3,downstream_gene_variant,,ENST00000498498,;DALRD3,downstream_gene_variant,,ENST00000472331,;DALRD3,downstream_gene_variant,,ENST00000481001,;WDR6,downstream_gene_variant,,ENST00000488572,;WDR6,downstream_gene_variant,,ENST00000462064,;WDR6,downstream_gene_variant,,ENST00000473238,;							MODERATE	2873/3366	E958G				Transcript		benign(0)	.	ENSP00000477389					1	
CRCP	0	LGGM	GRCh37	7	65595787	65595787	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	96	6	.	.	ENST00000395326.3:c.102A>G	p.Lys34=	p.K34=	ENST00000395326	NM_014478.4	34	aaA/aaG	0	1	1	UPI0000128406	0		ENST00000395326		ENSG00000241258	17888		102			HGNC	p.K34K		CRCP		SNV							ENST00000395326	protein_coding			Pfam_domain:PF03874,hmmpanther:PTHR15561,hmmpanther:PTHR15561:SF0,SMART_domains:SM00657,Superfamily_domains:SSF47819		K		G		460/3009							YES	CRCP,synonymous_variant,p.=,ENST00000395326,NM_014478.4;AC068533.7,synonymous_variant,p.=,ENST00000450043,;CRCP,intron_variant,,ENST00000415001,;CRCP,intron_variant,,ENST00000338592,NM_001040647.1;CRCP,intron_variant,,ENST00000431089,NM_001142414.1;CRCP,intron_variant,,ENST00000398684,NM_001040648.1;RP5-1132H15.1,intron_variant,,ENST00000435524,;CRCP,3_prime_UTR_variant,,ENST00000360415,;CRCP,non_coding_transcript_exon_variant,,ENST00000486848,;							LOW	102/447		RPC9_HUMAN			Transcript			.	ENSP00000378736		CCDS5532.1			1	
CADM2	0	LGGM	GRCh37	3	85932471	85932471	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	16	6	.	.	ENST00000405615.2:c.248G>A	p.Arg83His	p.R83H	ENST00000405615	NM_153184.3	83	cGc/cAc	0	1		UPI000006DE82	0	getma.org/pdb.php?prot=CADM2_HUMAN&from=23&to=122&var=R81H	ENST00000407528		ENSG00000175161	29849		22	-0.855		HGNC	p.R81H	rs778733322,COSM3767579,COSM3767580	CADM2	0.000249	SNV						0,1,1	ENST00000407528	protein_coding	getma.org/?cm=var&var=hg19,3,85932471,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF56,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/H		A	neutral	304/1422	7.68E-05	getma.org/?cm=msa&ty=f&p=CADM2_HUMAN&rb=23&re=122&var=R81H	tolerated(0.07)	G3XHN8_HUMAN				CADM2,missense_variant,p.Arg90His,ENST00000383699,NM_001167675.1,NM_001256504.1,NM_001256505.1;CADM2,missense_variant,p.Arg81His,ENST00000407528,NM_001167674.1;CADM2,missense_variant,p.Arg83His,ENST00000405615,NM_153184.3;					0,1,1		MODERATE	242/1308	R81H	CADM2_HUMAN	0.000153		Transcript		benign(0.151)	.	ENSP00000384575	8.24E-05	CCDS54614.1			1	
ARPP21	0	LGGM	GRCh37	3	35781064	35781064	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	26	6	.	.	ENST00000458225.1:c.1903G>T	p.Ala635Ser	p.A635S	ENST00000458225		635	Gca/Tca	0	1		UPI0000192731	0	NA	ENST00000187397		ENSG00000172995	16968		32	1.79		HGNC	p.A615S		ARPP21		SNV							ENST00000444190	protein_coding	getma.org/?cm=var&var=hg19,3,35781064,G,T&fts=all		hmmpanther:PTHR15672:SF14,hmmpanther:PTHR15672		A/S		T	low	2356/3433		getma.org/?cm=msa&ty=f&p=ARP21_HUMAN&rb=501&re=700&var=A634S	tolerated(0.26)	C9JTX6_HUMAN,C9JTF2_HUMAN,C9JQQ6_HUMAN,C9JI74_HUMAN,C9J5R1_HUMAN,C9J2U3_HUMAN				ARPP21,missense_variant,p.Ala634Ser,ENST00000187397,NM_016300.4;ARPP21,missense_variant,p.Ala615Ser,ENST00000444190,NM_001267617.1;ARPP21,missense_variant,p.Ala635Ser,ENST00000458225,;ARPP21,missense_variant,p.Ala635Ser,ENST00000417925,NM_001267619.1;ARPP21,missense_variant,p.Ala615Ser,ENST00000337271,;MIR128-2,upstream_gene_variant,,ENST00000384893,;ARPP21,non_coding_transcript_exon_variant,,ENST00000462173,;ARPP21,3_prime_UTR_variant,,ENST00000457165,;ARPP21,downstream_gene_variant,,ENST00000427590,;							MODERATE	1900/2439	A634S	ARP21_HUMAN			Transcript		benign(0.008)	.	ENSP00000187397		CCDS2661.1			1	
PER3	0	LGGM	GRCh37	1	7889973	7890026	+	inframe_deletion	In_Frame_Del	DEL	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	-	novel	by Submitter	H104362	H104362N.bam	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	33	10	.	.	ENST00000361923.2:c.3019_3072del	p.Ala1007_Ser1024del	p.A1007_S1024del	ENST00000361923	NM_016831.1	980	gAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAag/gag	0	1	1	UPI0000167B1D	0		ENST00000361923		ENSG00000049246	8847		43			HGNC	p.980_998del	TMP_ESP_1_7889973_7890026	PER3		deletion	-:0.1317						ENST00000361923	protein_coding			Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		ENPSHPTASALSTGSPPMK/E	-:0.1768	-		3114-3167/6203				Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,inframe_deletion,p.Ala1016_Ser1033del,ENST00000377532,;PER3,inframe_deletion,p.Ala1007_Ser1024del,ENST00000361923,NM_016831.1;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;							MODERATE	2939-2992/3606		PER3_HUMAN			Transcript	80		.	ENSP00000355031		CCDS89.1			1	
ATP2B2	0	LGGM	GRCh37	3	10379952	10379952	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	37	7	.	.	ENST00000360273.2:c.3328A>T	p.Asn1110Tyr	p.N1110Y	ENST00000360273	NM_001001331.2	1110	Aac/Tac	0	1		UPI00001261EF	0	NA	ENST00000352432		ENSG00000157087	815		44	0.55		HGNC	p.N1065Y		ATP2B2		SNV							ENST00000383800	protein_coding	getma.org/?cm=var&var=hg19,3,10379952,T,A&fts=all		Low_complexity_(Seg):seg		N/Y		A	neutral	3398/8593		getma.org/?cm=msa&ty=f&p=AT2B2_HUMAN&rb=1085&re=1125&var=N1110Y	tolerated(0.39)	Q4J699_HUMAN,Q4J696_HUMAN				ATP2B2,missense_variant,p.Asn1065Tyr,ENST00000397077,;ATP2B2,missense_variant,p.Asn1110Tyr,ENST00000360273,NM_001001331.2;ATP2B2,missense_variant,p.Asn1096Tyr,ENST00000343816,;ATP2B2,missense_variant,p.Asn1065Tyr,ENST00000383800,NM_001683.3;ATP2B2,missense_variant,p.Asn1110Tyr,ENST00000352432,;ATP2B2,missense_variant,p.Asn966Tyr,ENST00000452124,;ATP2B2,upstream_gene_variant,,ENST00000467702,;ATP2B2,missense_variant,p.Asn1065Tyr,ENST00000460129,;							MODERATE	3328/3732	N1110Y	AT2B2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000324172		CCDS33701.1			1	
NFATC2	0	LGGM	GRCh37	20	50048760	50048760	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	31	7	.	.	ENST00000396009.3:c.2566A>T	p.Ser856Cys	p.S856C	ENST00000396009	NM_001258297.1	856	Agc/Tgc	0	1	1	UPI0000167D0F	0	NA	ENST00000396009		ENSG00000101096	7776		38	1.1		HGNC	p.S856C		NFATC2		SNV							ENST00000396009	protein_coding	getma.org/?cm=var&var=hg19,20,50048760,T,A&fts=all		hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533		S/C		A	low	2786/7437		getma.org/?cm=msa&ty=f&p=NFAC2_HUMAN&rb=676&re=875&var=S856C	deleterious(0)	B5B2P4_HUMAN,B5B2P3_HUMAN			YES	NFATC2,missense_variant,p.Ser856Cys,ENST00000371564,NM_012340.4,NM_001258296.1;NFATC2,missense_variant,p.Ser856Cys,ENST00000396009,NM_001258297.1,NM_173091.3;NFATC2,missense_variant,p.Ser836Cys,ENST00000609943,NM_001258295.1,NM_001258292.1,NM_001136021.2;NFATC2,missense_variant,p.Ser836Cys,ENST00000414705,;NFATC2,missense_variant,p.Ser637Cys,ENST00000610033,;NFATC2,missense_variant,p.Ser637Cys,ENST00000609507,NM_001258294.1;							MODERATE	2566/2778	S856C	NFAC2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000379330		CCDS13437.1			1	
KIR3DL2	0	LGGM	GRCh37	19	55377853	55377853	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	151	7	.	.	ENST00000326321.3:c.1134G>C	p.Ala378=	p.A378=	ENST00000326321	NM_006737.3	378	gcG/gcC	0	1	1	UPI000012DB25	0		ENST00000326321		ENSG00000240403	6339		158			HGNC	p.A378A		KIR3DL2		SNV							ENST00000402254	protein_coding			hmmpanther:PTHR11738:SF19,hmmpanther:PTHR11738		A		C		1167/1877				O78200_HUMAN,E4W3V6_HUMAN,A7YL13_HUMAN			YES	KIR3DL2,synonymous_variant,p.=,ENST00000326321,NM_006737.3;KIR3DL1,synonymous_variant,p.=,ENST00000402254,;KIR3DL2,synonymous_variant,p.=,ENST00000270442,NM_001242867.1;RNU6-222P,downstream_gene_variant,,ENST00000362438,;							LOW	1134/1368		KI3L2_HUMAN			Transcript			.	ENSP00000325525		CCDS12906.1			1	
CPE	0	LGGM	GRCh37	4	166408704	166408704	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	33	7	.	.	ENST00000402744.4:c.1088A>G	p.Asn363Ser	p.N363S	ENST00000402744	NM_001873.2	363	aAc/aGc	0	1	1	UPI000000163E	0	getma.org/pdb.php?prot=CBPE_HUMAN&from=59&to=364&var=N363S	ENST00000402744		ENSG00000109472	2303		40	2.275		HGNC	p.N363S		CPE		SNV							ENST00000402744	protein_coding	getma.org/?cm=var&var=hg19,4,166408704,A,G&fts=all		Superfamily_domains:SSF53187,SMART_domains:SM00631,Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF41		N/S		G	medium	1368/2421		getma.org/?cm=msa&ty=f&p=CBPE_HUMAN&rb=59&re=364&var=N363S	deleterious(0)	D6RF88_HUMAN,D6R930_HUMAN,C9JE88_HUMAN			YES	CPE,missense_variant,p.Asn363Ser,ENST00000402744,NM_001873.2;CPE,downstream_gene_variant,,ENST00000511992,;							MODERATE	1088/1431	N363S	CBPE_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000386104		CCDS3810.1			1	
DST	0	LGGM	GRCh37	6	56471737	56471737	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	117	7	.	.	ENST00000244364.6:c.3672+3488A>T		*1224*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		124			HGNC	p.P2352P		DST		SNV			1				ENST00000312431	protein_coding							A		-/16742				Q86T18_HUMAN			YES	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.=,ENST00000439203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
CEP85L	0	LGGM	GRCh37	6	118886820	118886820	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	58	8	.	.	ENST00000368488.5:c.901A>T	p.Met301Leu	p.M301L	ENST00000368488	NM_001178035.1	301	Atg/Ttg	0	1		UPI0000470017	0	NA	ENST00000368491		ENSG00000111860	21638		66	0.55		HGNC	p.M298L		CEP85L		SNV							ENST00000419517	protein_coding	getma.org/?cm=var&var=hg19,6,118886820,T,A&fts=all		hmmpanther:PTHR31075,hmmpanther:PTHR31075:SF2		M/L		A	neutral	1514/7673		getma.org/?cm=msa&ty=f&p=CE85L_HUMAN&rb=201&re=400&var=M298L	tolerated(0.11)					CEP85L,missense_variant,p.Met298Leu,ENST00000368491,NM_001042475.2;CEP85L,missense_variant,p.Met301Leu,ENST00000368488,NM_001178035.1;CEP85L,missense_variant,p.Met298Leu,ENST00000419517,NM_206921.2;CEP85L,missense_variant,p.Met301Leu,ENST00000392500,;CEP85L,missense_variant,p.Met301Leu,ENST00000434604,;CEP85L,missense_variant,p.Met196Leu,ENST00000360290,;PLN,downstream_gene_variant,,ENST00000357525,NM_002667.3;CEP85L,non_coding_transcript_exon_variant,,ENST00000472713,;CEP85L,downstream_gene_variant,,ENST00000476150,;CEP85L,downstream_gene_variant,,ENST00000462101,;CEP85L,non_coding_transcript_exon_variant,,ENST00000483035,;							MODERATE	892/2418	M298L	CE85L_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000357477		CCDS43498.1			1	
KIF15	0	LGGM	GRCh37	3	44816836	44816836	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	54	8	.	.	ENST00000326047.4:c.153A>C	p.Leu51Phe	p.L51F	ENST00000326047	NM_020242.2	51	ttA/ttC	0	1	1	UPI000006DB0E	0	getma.org/pdb.php?prot=KIF15_HUMAN&from=32&to=363&var=L51F	ENST00000326047		ENSG00000163808	17273		62	1.685		HGNC	p.Y37S		KIF15		SNV							ENST00000438321	protein_coding	getma.org/?cm=var&var=hg19,3,44816836,A,C&fts=all		PROSITE_profiles:PS50067,hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115,Gene3D:3.40.850.10,Pfam_domain:PF00225,SMART_domains:SM00129,Superfamily_domains:SSF52540		L/F		C	low	302/4842		getma.org/?cm=msa&ty=f&p=KIF15_HUMAN&rb=32&re=363&var=L51F	deleterious(0.01)	D6RCT7_HUMAN			YES	KIF15,missense_variant,p.Leu51Phe,ENST00000326047,NM_020242.2;KIF15,intron_variant,,ENST00000481166,;KIF15,missense_variant,p.Tyr37Ser,ENST00000438321,;							MODERATE	153/4167	L51F	KIF15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324020		CCDS33744.1			1	
PDZD9	0	LGGM	GRCh37	16	21995927	21995927	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	16	9	.	.	ENST00000537222.2:c.276T>C	p.Asp92=	p.D92=	ENST00000537222	NM_173806.3	92	gaT/gaC	0	1		UPI0000EADF1E	0		ENST00000424898		ENSG00000155714	28740		25			HGNC	p.D92D		PDZD9		SNV							ENST00000537222	protein_coding			hmmpanther:PTHR22698		D		G		519/1260								PDZD9,synonymous_variant,p.=,ENST00000286143,;PDZD9,synonymous_variant,p.=,ENST00000424898,;PDZD9,synonymous_variant,p.=,ENST00000537222,NM_173806.3;UQCRC2,downstream_gene_variant,,ENST00000268379,NM_003366.2;UQCRC2,downstream_gene_variant,,ENST00000561553,;PDZD9,3_prime_UTR_variant,,ENST00000523914,;UQCRC2,downstream_gene_variant,,ENST00000563898,;UQCRC2,downstream_gene_variant,,ENST00000561798,;							LOW	456/795		PDZD9_HUMAN			Transcript			.	ENSP00000400514					1	
IL17RD	0	LGGM	GRCh37	3	57132051	57132051	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	77	9	.	.	ENST00000296318.7:c.1680C>T	p.Phe560=	p.F560=	ENST00000296318	NM_017563.3	560	ttC/ttT	0	1	1	UPI0000047CC3	0		ENST00000296318		ENSG00000144730	17616		86			HGNC	p.F416F	COSM1047595,COSM1594005	IL17RD		SNV			1			1,1	ENST00000463523	protein_coding			hmmpanther:PTHR15583,hmmpanther:PTHR15583:SF8		F		A		1769/8720				C9J6R0_HUMAN			YES	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,;					1,1		LOW	1680/2220		I17RD_HUMAN			Transcript			.	ENSP00000296318		CCDS2880.2			1	
IGHMBP2	0	LGGM	GRCh37	11	68704558	68704558	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	29	9	.	.	ENST00000255078.3:c.2610A>G	p.Lys870=	p.K870=	ENST00000255078	NM_002180.2	870	aaA/aaG	0	1	1	UPI000013CE82	0		ENST00000255078		ENSG00000132740	5542		38			HGNC	p.K870K		IGHMBP2		SNV			1				ENST00000255078	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF140		K		G		2721/3961				F5H5K3_HUMAN			YES	IGHMBP2,splice_region_variant,p.=,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,splice_region_variant,,ENST00000543739,;IGHMBP2,downstream_gene_variant,,ENST00000539064,;IGHMBP2,upstream_gene_variant,,ENST00000544521,;IGHMBP2,downstream_gene_variant,,ENST00000537458,;IGHMBP2,downstream_gene_variant,,ENST00000545475,;							LOW	2610/2982		SMBP2_HUMAN			Transcript			.	ENSP00000255078		CCDS8187.1			1	
GAPVD1	0	LGGM	GRCh37	9	128070170	128070170	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	36	9	.	.	ENST00000394105.2:c.1441+11T>A		*481*	ENST00000394105	NM_015635.2			0	1		UPI000165C132	0		ENST00000394104		ENSG00000165219	23375		45			HGNC	p.N484K		GAPVD1		SNV							ENST00000394084	protein_coding							A		-/6861				C9IZX9_HUMAN,C9IZ08_HUMAN				GAPVD1,missense_variant,p.Asn484Lys,ENST00000394084,;GAPVD1,intron_variant,,ENST00000470056,;GAPVD1,intron_variant,,ENST00000394104,NM_001282679.1;GAPVD1,intron_variant,,ENST00000265956,;GAPVD1,intron_variant,,ENST00000297933,NM_001282680.1;GAPVD1,intron_variant,,ENST00000495955,;GAPVD1,intron_variant,,ENST00000394105,NM_015635.2;GAPVD1,intron_variant,,ENST00000394083,;GAPVD1,intron_variant,,ENST00000312123,NM_001282681.1;GAPVD1,intron_variant,,ENST00000467750,;GAPVD1,intron_variant,,ENST00000431329,;GAPVD1,intron_variant,,ENST00000436712,;RNU6-1020P,upstream_gene_variant,,ENST00000363684,;GAPVD1,intron_variant,,ENST00000497580,;							MODIFIER	-/4437		GAPD1_HUMAN			Transcript			.	ENSP00000377664		CCDS65132.1			1	
SSUH2	0	LGGM	GRCh37	3	8671396	8671396	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	30	9	.	.	ENST00000544814.1:c.542A>T	p.His181Leu	p.H181L	ENST00000544814	NM_001256748.1	181	cAt/cTt	0	1		UPI000006F08D	0	NA	ENST00000317371		ENSG00000125046	24809		39	1.075		HGNC	p.H159L		SSUH2		SNV							ENST00000341795	protein_coding	getma.org/?cm=var&var=hg19,3,8671396,T,A&fts=all		hmmpanther:PTHR15852,hmmpanther:PTHR15852:SF7		H/L		A	low	1702/2561		getma.org/?cm=msa&ty=f&p=CC032_HUMAN&rb=1&re=200&var=H159L	tolerated(0.72)					SSUH2,missense_variant,p.His159Leu,ENST00000317371,;SSUH2,missense_variant,p.His159Leu,ENST00000341795,NM_015931.2,NM_001256749.1;SSUH2,missense_variant,p.His159Leu,ENST00000415132,;SSUH2,missense_variant,p.His181Leu,ENST00000544814,NM_001256748.1;SSUH2,downstream_gene_variant,,ENST00000427408,;SSUH2,non_coding_transcript_exon_variant,,ENST00000492435,;SSUH2,downstream_gene_variant,,ENST00000484585,;SSUH2,downstream_gene_variant,,ENST00000466215,;SSUH2,downstream_gene_variant,,ENST00000483845,;SSUH2,3_prime_UTR_variant,,ENST00000455157,;SSUH2,3_prime_UTR_variant,,ENST00000435138,;SSUH2,3_prime_UTR_variant,,ENST00000413305,;SSUH2,3_prime_UTR_variant,,ENST00000420394,;SSUH2,non_coding_transcript_exon_variant,,ENST00000495366,;							MODERATE	476/1062	H159L	SSUH2_HUMAN			Transcript		benign(0.025)	.	ENSP00000324551		CCDS2568.1			1	
TAF15	0	LGGM	GRCh37	17	34173927	34173927	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	36	9	.	.	ENST00000588240.1:c.1757A>G	p.Asp586Gly	p.D586G	ENST00000588240	NM_139215.2	586	gAt/gGt	0	1	1	UPI000013317D	0	NA	ENST00000588240		ENSG00000172660	11547		45	1.1		HGNC	p.I391V		TAF15		SNV							ENST00000592237	protein_coding	getma.org/?cm=var&var=hg19,17,34173927,A,G&fts=all		hmmpanther:PTHR23238,hmmpanther:PTHR23238:SF25		D/G		G	low	1872/2191		getma.org/?cm=msa&ty=f&p=RBP56_HUMAN&rb=391&re=591&var=D586G	deleterious_low_confidence(0)	Q86X94_HUMAN,K7EJB3_HUMAN			YES	TAF15,missense_variant,p.Asp586Gly,ENST00000588240,NM_139215.2,NM_003487.3;TAF15,missense_variant,p.Asp583Gly,ENST00000311979,;TAF15,missense_variant,p.Ile391Val,ENST00000592237,;TAF15,missense_variant,p.Asp208Gly,ENST00000585577,;TAF15,intron_variant,,ENST00000586593,;TAF15,downstream_gene_variant,,ENST00000590051,;TAF15,downstream_gene_variant,,ENST00000591763,;TAF15,downstream_gene_variant,,ENST00000586970,;							MODERATE	1757/1779	D586G	RBP56_HUMAN			Transcript		unknown(0)	.	ENSP00000466950		CCDS32623.1			1	
PRSS22	0	LGGM	GRCh37	16	2906193	2906193	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	15	9	.	.	ENST00000161006.3:c.171T>C	p.Thr57=	p.T57=	ENST00000161006	NM_022119.3	57	acT/acC	0	1	1	UPI0000126AFA	0		ENST00000161006		ENSG00000005001	14368		24			HGNC	p.T57T		PRSS22		SNV							ENST00000161006	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24253:SF6,hmmpanther:PTHR24253,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		T		G		237/1386							YES	PRSS22,synonymous_variant,p.=,ENST00000161006,NM_022119.3;PRSS22,synonymous_variant,p.=,ENST00000571228,;LA16c-325D7.1,upstream_gene_variant,,ENST00000577140,;PRSS22,non_coding_transcript_exon_variant,,ENST00000574768,;PRSS22,non_coding_transcript_exon_variant,,ENST00000577177,;PRSS22,3_prime_UTR_variant,,ENST00000576381,;PRSS22,non_coding_transcript_exon_variant,,ENST00000570950,;PRSS22,upstream_gene_variant,,ENST00000575164,;PRSS22,upstream_gene_variant,,ENST00000572061,;							LOW	171/954		BSSP4_HUMAN			Transcript			.	ENSP00000161006		CCDS10481.1			1	
GIGYF2	0	LGGM	GRCh37	2	233656152	233656152	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	18	9	.	.	ENST00000409451.3:c.1341G>A	p.Gly447=	p.G447=	ENST00000409451		447	ggG/ggA	0	1		UPI00001BD8AE	0		ENST00000373563		ENSG00000204120	11960		27			HGNC	p.G257G		GIGYF2		SNV			1				ENST00000452341	protein_coding			hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38		G		A		1473/5847				C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J7G1_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN,B9EG55_HUMAN				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,synonymous_variant,p.=,ENST00000452341,;GIGYF2,synonymous_variant,p.=,ENST00000440945,;GIGYF2,synonymous_variant,p.=,ENST00000423659,;GIGYF2,downstream_gene_variant,,ENST00000410033,;GIGYF2,downstream_gene_variant,,ENST00000427649,;GIGYF2,downstream_gene_variant,,ENST00000445650,;GIGYF2,downstream_gene_variant,,ENST00000424414,;GIGYF2,downstream_gene_variant,,ENST00000421778,;GIGYF2,downstream_gene_variant,,ENST00000455139,;GIGYF2,downstream_gene_variant,,ENST00000436349,;GIGYF2,3_prime_UTR_variant,,ENST00000458528,;GIGYF2,downstream_gene_variant,,ENST00000424038,;							LOW	1278/3900		PERQ2_HUMAN			Transcript			.	ENSP00000362664		CCDS33401.1			1	
MCAM	0	LGGM	GRCh37	11	119181511	119181511	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	55	9	.	.	ENST00000264036.4:c.1748A>C	p.Tyr583Ser	p.Y583S	ENST00000264036	NM_006500.2	583	tAt/tCt	0	1	1	UPI000013D4A8	0	NA	ENST00000264036		ENSG00000076706	6934		64	0.975		HGNC	p.Y583S		MCAM		SNV							ENST00000264036	protein_coding	getma.org/?cm=var&var=hg19,11,119181511,T,G&fts=all		hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF18		Y/S		G	low	1763/3311		getma.org/?cm=msa&ty=f&p=MUC18_HUMAN&rb=504&re=646&var=Y583S	deleterious(0)				YES	MCAM,missense_variant,p.Tyr583Ser,ENST00000264036,NM_006500.2;MCAM,3_prime_UTR_variant,,ENST00000392814,;CBL,downstream_gene_variant,,ENST00000264033,NM_005188.3;MCAM,non_coding_transcript_exon_variant,,ENST00000528976,;MCAM,non_coding_transcript_exon_variant,,ENST00000524940,;MCAM,downstream_gene_variant,,ENST00000530144,;MCAM,downstream_gene_variant,,ENST00000529295,;MCAM,downstream_gene_variant,,ENST00000526992,;MCAM,downstream_gene_variant,,ENST00000534522,;MCAM,downstream_gene_variant,,ENST00000525555,;MCAM,downstream_gene_variant,,ENST00000529686,;MCAM,downstream_gene_variant,,ENST00000529257,;MCAM,downstream_gene_variant,,ENST00000530706,;MCAM,downstream_gene_variant,,ENST00000528502,;MCAM,non_coding_transcript_exon_variant,,ENST00000525586,;MCAM,non_coding_transcript_exon_variant,,ENST00000528533,;MCAM,downstream_gene_variant,,ENST00000530937,;MCAM,downstream_gene_variant,,ENST00000530006,;MCAM,downstream_gene_variant,,ENST00000526190,;							MODERATE	1748/1941	Y583S	MUC18_HUMAN			Transcript		possibly_damaging(0.807)	.	ENSP00000264036		CCDS31690.1			1	
TMCO6	0	LGGM	GRCh37	5	140023393	140023393	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	40	9	.	.	ENST00000394671.3:c.947G>A	p.Ser316Asn	p.S316N	ENST00000394671	NM_018502.3	316	aGc/aAc	0	1	1	UPI00003E5FF0	0	NA	ENST00000394671		ENSG00000113119	28814		49	0.695		HGNC	p.S316N		TMCO6		SNV							ENST00000394671	protein_coding	getma.org/?cm=var&var=hg19,5,140023393,G,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR16356,Superfamily_domains:SSF48371		S/N		A	neutral	1048/1887		getma.org/?cm=msa&ty=f&p=TMCO6_HUMAN&rb=201&re=400&var=S316N	deleterious(0)				YES	TMCO6,missense_variant,p.Ser316Asn,ENST00000394671,NM_018502.3;TMCO6,missense_variant,p.Ser322Asn,ENST00000252100,;TMCO6,missense_variant,p.Ser76Asn,ENST00000537378,;IK,upstream_gene_variant,,ENST00000417647,NM_006083.3;TMCO6,downstream_gene_variant,,ENST00000511410,;IK,upstream_gene_variant,,ENST00000508301,;NDUFA2,downstream_gene_variant,,ENST00000252102,NM_001185012.1,NM_002488.4;IK,upstream_gene_variant,,ENST00000502899,;NDUFA2,downstream_gene_variant,,ENST00000512088,;IK,upstream_gene_variant,,ENST00000513256,;IK,upstream_gene_variant,,ENST00000507593,;MIR3655,upstream_gene_variant,,ENST00000581765,;NDUFA2,intron_variant,,ENST00000510680,;IK,upstream_gene_variant,,ENST00000523672,;TMCO6,non_coding_transcript_exon_variant,,ENST00000510336,;TMCO6,non_coding_transcript_exon_variant,,ENST00000515265,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509605,;TMCO6,non_coding_transcript_exon_variant,,ENST00000509269,;TMCO6,downstream_gene_variant,,ENST00000505086,;TMCO6,downstream_gene_variant,,ENST00000514449,;NDUFA2,downstream_gene_variant,,ENST00000502960,;TMCO6,downstream_gene_variant,,ENST00000515653,;TMCO6,downstream_gene_variant,,ENST00000513002,;TMCO6,downstream_gene_variant,,ENST00000504069,;IK,upstream_gene_variant,,ENST00000503332,;TMCO6,downstream_gene_variant,,ENST00000509217,;TMCO6,downstream_gene_variant,,ENST00000394669,;IK,upstream_gene_variant,,ENST00000512827,;							MODERATE	947/1482	S316N	TMCO6_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000378166		CCDS4233.2			1	
FRAS1	0	LGGM	GRCh37	4	79173573	79173573	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	73	9	.	.	ENST00000264895.6:c.337T>A	p.Cys113Ser	p.C113S	ENST00000264895	NM_025074.6	113	Tgt/Agt	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		82	4.015		HGNC	p.C113S		FRAS1		SNV			1				ENST00000325942	protein_coding	getma.org/?cm=var&var=hg19,4,79173573,T,A&fts=all		PROSITE_profiles:PS50184,PROSITE_patterns:PS01208,Gene3D:2.10.70.10,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603		C/S		A	high	777/12479		getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=95&re=152&var=C113S		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Cys113Ser,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Cys113Ser,ENST00000325942,NM_001166133.1;FRAS1,missense_variant,p.Cys113Ser,ENST00000264899,;FRAS1,missense_variant,p.Cys42Ser,ENST00000502446,;FRAS1,upstream_gene_variant,,ENST00000508900,;							MODERATE	337/12039	C113S	FRAS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264895		CCDS54771.1			1	
DSC1	0	LGGM	GRCh37	18	28720084	28720084	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	53	9	.	.	ENST00000257198.5:c.1441C>T	p.Gln481Ter	p.Q481*	ENST00000257198	NM_024421.2	481	Caa/Taa	0	1	1	UPI000006DF10	0	NA	ENST00000257198		ENSG00000134765	3035		62	0		HGNC	p.Q481X		DSC1		SNV							ENST00000257197	protein_coding	getma.org/?cm=var&var=hg19,18,28720084,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF8,Superfamily_domains:SSF49313		Q/*		A	NA	1703/4225		NA					YES	DSC1,stop_gained,p.Gln481Ter,ENST00000257197,NM_004948.3;DSC1,stop_gained,p.Gln481Ter,ENST00000257198,NM_024421.2;RP11-408H20.2,intron_variant,,ENST00000581836,;							HIGH	1441/2685	Q481*	DSC1_HUMAN			Transcript			.	ENSP00000257198		CCDS11894.1			1	
EXOSC1	0	LGGM	GRCh37	10	99197485	99197485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	67	10	.	.	ENST00000370902.3:c.368G>A	p.Arg123His	p.R123H	ENST00000370902	NM_016046.3	123	cGc/cAc	0	1	1	UPI0000128542	0	getma.org/pdb.php?prot=EXOS1_HUMAN&from=64&to=135&var=R123H	ENST00000370902		ENSG00000171311	17286		77	2.405		HGNC	p.R82H	rs769739512	EXOSC1	6.06E-05	SNV							ENST00000370884	protein_coding	getma.org/?cm=var&var=hg19,10,99197485,C,T&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF10447,hmmpanther:PTHR12686,hmmpanther:PTHR12686:SF8,SMART_domains:SM00316,Superfamily_domains:SSF50249		R/H		T	medium	400/923	1.50E-05	getma.org/?cm=msa&ty=f&p=EXOS1_HUMAN&rb=64&re=135&var=R123H	deleterious(0.01)				YES	EXOSC1,missense_variant,p.Arg123His,ENST00000370902,NM_016046.3;EXOSC1,missense_variant,p.Arg98His,ENST00000370885,;EXOSC1,missense_variant,p.Arg93His,ENST00000370884,;EXOSC1,intron_variant,,ENST00000370886,;EXOSC1,intron_variant,,ENST00000485122,;EXOSC1,intron_variant,,ENST00000477692,;PGAM1,downstream_gene_variant,,ENST00000334828,NM_002629.2;EXOSC1,non_coding_transcript_exon_variant,,ENST00000471049,;EXOSC1,non_coding_transcript_exon_variant,,ENST00000472345,;EXOSC1,downstream_gene_variant,,ENST00000476234,;							MODERATE	368/588	R123H	EXOS1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000359939	1.65E-05	CCDS7459.1			1	
RLF	0	LGGM	GRCh37	1	40705773	40705773	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	34	10	.	.	ENST00000372771.4:c.5399A>G	p.Asn1800Ser	p.N1800S	ENST00000372771	NM_012421.3	1800	aAt/aGt	0	1	1	UPI000013C9DA	0	NA	ENST00000372771		ENSG00000117000	10025		44	0.805		HGNC	p.N1800S		RLF		SNV							ENST00000372771	protein_coding	getma.org/?cm=var&var=hg19,1,40705773,A,G&fts=all		hmmpanther:PTHR15507:SF18,hmmpanther:PTHR15507		N/S		G	low	5426/6246		getma.org/?cm=msa&ty=f&p=RLF_HUMAN&rb=1594&re=1912&var=N1800S	tolerated(0.76)				YES	RLF,missense_variant,p.Asn1800Ser,ENST00000372771,NM_012421.3;							MODERATE	5399/5745	N1800S	RLF_HUMAN			Transcript		benign(0.001)	.	ENSP00000361857		CCDS448.1			1	
ACACA	0	LGGM	GRCh37	17	35687135	35687135	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	25	10	.	.	ENST00000353139.5:c.316G>A	p.Asp106Asn	p.D106N	ENST00000353139	NM_198834.1	106	Gat/Aat	0	1	1	UPI00002263AC	0	NA	ENST00000353139		ENSG00000132142	84		35	0.345		HGNC	p.D106N		ACACA		SNV			1				ENST00000353139	protein_coding	getma.org/?cm=var&var=hg19,17,35687135,C,T&fts=all				D/N		T	neutral	798/9962		getma.org/?cm=msa&ty=f&p=ACACA_HUMAN&rb=1&re=73&var=D69N	tolerated_low_confidence(0.12)	Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN			YES	ACACA,missense_variant,p.Asp106Asn,ENST00000353139,NM_198834.1,NM_198839.1;ACACA,missense_variant,p.Asp69Asn,ENST00000394406,NM_198836.1;ACACA,missense_variant,p.Asp69Asn,ENST00000451642,;ACACA,missense_variant,p.Asp69Asn,ENST00000416895,;ACACA,missense_variant,p.Asp69Asn,ENST00000588142,;ACACA,5_prime_UTR_variant,,ENST00000413318,;ACACA,5_prime_UTR_variant,,ENST00000394403,;ACACA,5_prime_UTR_variant,,ENST00000591148,;ACACA,missense_variant,p.Asp106Asn,ENST00000456066,;ACACA,missense_variant,p.Asp69Asn,ENST00000456561,;ACACA,non_coding_transcript_exon_variant,,ENST00000590888,;							MODERATE	316/7152	D69N	ACACA_HUMAN			Transcript		benign(0.154)	.	ENSP00000344789		CCDS42302.1			1	
RAD50	0	LGGM	GRCh37	5	131925375	131925375	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	23	10	.	.	ENST00000265335.6:c.1298G>A	p.Arg433Lys	p.R433K	ENST00000265335		433	aGa/aAa	0	1		UPI000006F2C4	0	NA	ENST00000378823		ENSG00000113522	9816		33	2.075		HGNC	p.R433K		RAD50		SNV			1				ENST00000423956	protein_coding	getma.org/?cm=var&var=hg19,5,131925375,G,A&fts=all		hmmpanther:PTHR18867,hmmpanther:PTHR18867:SF12,TIGRFAM_domain:TIGR00606		R/K		A	medium	1699/6597		getma.org/?cm=msa&ty=f&p=RAD50_HUMAN&rb=299&re=498&var=R433K	deleterious(0.02)					RAD50,missense_variant,p.Arg294Lys,ENST00000378823,NM_005732.3;RAD50,missense_variant,p.Arg433Lys,ENST00000265335,;RAD50,missense_variant,p.Arg433Lys,ENST00000453394,;RAD50,upstream_gene_variant,,ENST00000434288,;RAD50,downstream_gene_variant,,ENST00000487596,;RAD50,missense_variant,p.Arg433Lys,ENST00000423956,;RAD50,3_prime_UTR_variant,,ENST00000533482,;							MODERATE	881/3522	R433K	RAD50_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000368100					1	
ASNA1	0	LGGM	GRCh37	19	12858072	12858072	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	19	11	.	.	ENST00000591090.1:c.671A>G	p.Glu224Gly	p.E224G	ENST00000591090		224	gAg/gGg	0	1		UPI0000126095	0	getma.org/pdb.php?prot=ASNA_HUMAN&from=37&to=340&var=E224G	ENST00000357332		ENSG00000198356	752		30	1.77		HGNC	p.E224G		ASNA1		SNV							ENST00000591090	protein_coding	getma.org/?cm=var&var=hg19,19,12858072,A,G&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF02374,TIGRFAM_domain:TIGR00345,hmmpanther:PTHR10803:SF3,hmmpanther:PTHR10803,HAMAP:MF_03112		E/G		G	low	685/1280		getma.org/?cm=msa&ty=f&p=ASNA_HUMAN&rb=37&re=340&var=E224G	tolerated(0.28)	K7ERW9_HUMAN				ASNA1,missense_variant,p.Glu224Gly,ENST00000591090,;ASNA1,missense_variant,p.Glu224Gly,ENST00000357332,NM_004317.2;BEST2,upstream_gene_variant,,ENST00000549706,;BEST2,upstream_gene_variant,,ENST00000553030,;ASNA1,downstream_gene_variant,,ENST00000586561,;ASNA1,downstream_gene_variant,,ENST00000590633,;							MODERATE	671/1047	E224G	ASNA_HUMAN			Transcript		benign(0.02)	.	ENSP00000349887		CCDS32920.1			1	
THBD	0	LGGM	GRCh37	20	23028867	23028867	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	26	11	.	.	ENST00000377103.2:c.1275T>C	p.Cys425=	p.C425=	ENST00000377103	NM_000361.2	425	tgT/tgC	0	1	1	UPI00000002BD	0		ENST00000377103		ENSG00000178726	11784		37			HGNC	p.C425C		THBD		SNV			1				ENST00000377103	protein_coding			hmmpanther:PTHR24036,hmmpanther:PTHR24036:SF5,PROSITE_patterns:PS01186,Pfam_domain:PF09064,Gene3D:2.10.25.10,SMART_domains:SM00181,PIRSF_domain:PIRSF001775,Superfamily_domains:SSF57196		C		G		1512/4109							YES	THBD,synonymous_variant,p.=,ENST00000377103,NM_000361.2;							LOW	1275/1728		TRBM_HUMAN			Transcript			.	ENSP00000366307		CCDS13148.1			1	
SLC25A25	0	LGGM	GRCh37	9	130854325	130854325	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	42	11	.	.	ENST00000373068.2:c.262-9050C>G		*88*	ENST00000373068	NM_001006641.3			0	1	1	UPI00002118BE	0		ENST00000373068		ENSG00000148339	20663		53			HGNC	p.P59R		SLC25A25		SNV							ENST00000432073	protein_coding							G		-/3431							YES	SLC25A25,missense_variant,p.Pro59Arg,ENST00000373066,NM_001265614.2;SLC25A25,missense_variant,p.Pro59Arg,ENST00000432073,NM_001006642.3;SLC25A25,intron_variant,,ENST00000373068,NM_001006641.3;SLC25A25,intron_variant,,ENST00000373069,;RP11-379C10.4,intron_variant,,ENST00000453870,;							MODIFIER	-/1512		SCMC2_HUMAN			Transcript			.	ENSP00000362159		CCDS35151.1			1	
GLG1	0	LGGM	GRCh37	16	74497305	74497305	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	34	11	.	.	ENST00000205061.5:c.2740G>T	p.Asp914Tyr	p.D914Y	ENST00000205061	NM_012201.5	914	Gat/Tat	0	1		UPI000013C652	0	NA	ENST00000422840		ENSG00000090863	4316		45	2.25		HGNC	p.D914Y		GLG1		SNV							ENST00000205061	protein_coding	getma.org/?cm=var&var=hg19,16,74497305,C,A&fts=all		PROSITE_profiles:PS51289,hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF1		D/Y		A	medium	2740/4748		getma.org/?cm=msa&ty=f&p=GSLG1_HUMAN&rb=883&re=944&var=D914Y	deleterious(0)	Q6ZMF1_HUMAN,H3BQT1_HUMAN				GLG1,missense_variant,p.Asp914Tyr,ENST00000422840,NM_001145667.1;GLG1,missense_variant,p.Asp914Tyr,ENST00000205061,NM_012201.5;GLG1,missense_variant,p.Asp903Tyr,ENST00000447066,NM_001145666.1;Y_RNA,downstream_gene_variant,,ENST00000384794,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561481,;GLG1,non_coding_transcript_exon_variant,,ENST00000563646,;GLG1,downstream_gene_variant,,ENST00000566601,;GLG1,downstream_gene_variant,,ENST00000563432,;							MODERATE	2740/3540	D914Y	GSLG1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000405984		CCDS45527.1			1	
NISCH	0	LGGM	GRCh37	3	52526181	52526181	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	26	11	.	.	ENST00000345716.4:c.4198C>T	p.Pro1400Ser	p.P1400S	ENST00000345716	NM_007184.3	1400	Ccg/Tcg	0	1	1	UPI000036715D	0	NA	ENST00000345716		ENSG00000010322	18006		37	0.975		HGNC	p.P1400S		NISCH		SNV							ENST00000479054	protein_coding	getma.org/?cm=var&var=hg19,3,52526181,C,T&fts=all		hmmpanther:PTHR15454:SF7,hmmpanther:PTHR15454		P/S		T	low	4332/5238		getma.org/?cm=msa&ty=f&p=NISCH_HUMAN&rb=474&re=1502&var=P1400S	deleterious(0)				YES	NISCH,missense_variant,p.Pro1400Ser,ENST00000345716,NM_007184.3;NISCH,missense_variant,p.Pro1400Ser,ENST00000479054,;STAB1,upstream_gene_variant,,ENST00000321725,NM_015136.2;NISCH,downstream_gene_variant,,ENST00000488243,;NISCH,non_coding_transcript_exon_variant,,ENST00000489895,;STAB1,upstream_gene_variant,,ENST00000481607,;NISCH,downstream_gene_variant,,ENST00000467594,;STAB1,upstream_gene_variant,,ENST00000479355,;NISCH,downstream_gene_variant,,ENST00000460759,;							MODERATE	4198/4515	P1400S	NISCH_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000339958		CCDS33767.1			1	
GLG1	0	LGGM	GRCh37	16	74497306	74497306	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	34	11	.	.	ENST00000205061.5:c.2739G>T	p.Met913Ile	p.M913I	ENST00000205061	NM_012201.5	913	atG/atT	0	1		UPI000013C652	0	NA	ENST00000422840		ENSG00000090863	4316		45	1.905		HGNC	p.M913I		GLG1		SNV							ENST00000205061	protein_coding	getma.org/?cm=var&var=hg19,16,74497306,C,A&fts=all		PROSITE_profiles:PS51289,hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF1		M/I		A	medium	2739/4748		getma.org/?cm=msa&ty=f&p=GSLG1_HUMAN&rb=883&re=944&var=M913I	tolerated(0.09)	Q6ZMF1_HUMAN,H3BQT1_HUMAN				GLG1,missense_variant,p.Met913Ile,ENST00000422840,NM_001145667.1;GLG1,missense_variant,p.Met913Ile,ENST00000205061,NM_012201.5;GLG1,missense_variant,p.Met902Ile,ENST00000447066,NM_001145666.1;Y_RNA,downstream_gene_variant,,ENST00000384794,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561481,;GLG1,non_coding_transcript_exon_variant,,ENST00000563646,;GLG1,downstream_gene_variant,,ENST00000566601,;GLG1,downstream_gene_variant,,ENST00000563432,;							MODERATE	2739/3540	M913I	GSLG1_HUMAN			Transcript		benign(0.05)	.	ENSP00000405984		CCDS45527.1			1	
FANK1	0	LGGM	GRCh37	10	127677190	127677190	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	91	11	.	.	ENST00000368693.1:c.262A>T	p.Thr88Ser	p.T88S	ENST00000368693		88	Acc/Tcc	0	1	1	UPI000046FFD6	0	getma.org/pdb.php?prot=FANK1_HUMAN&from=8&to=105&var=T88S	ENST00000368693		ENSG00000203780	23527		102	0.435		HGNC	p.T82S		FANK1		SNV							ENST00000445510	protein_coding	getma.org/?cm=var&var=hg19,10,127677190,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR24183,hmmpanther:PTHR24183:SF1,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/S		T	neutral	366/1294		getma.org/?cm=msa&ty=f&p=FANK1_HUMAN&rb=8&re=105&var=T88S	tolerated(0.22)	C9JD80_HUMAN,A6NH44_HUMAN			YES	FANK1,missense_variant,p.Thr82Ser,ENST00000368695,NM_145235.3;FANK1,missense_variant,p.Thr88Ser,ENST00000368693,;FANK1,missense_variant,p.Thr82Ser,ENST00000449042,;FANK1,missense_variant,p.Thr82Ser,ENST00000368691,;FANK1,missense_variant,p.Thr82Ser,ENST00000445510,;FANK1,missense_variant,p.Thr82Ser,ENST00000368689,;FANK1,missense_variant,p.Thr82Ser,ENST00000417114,;FANK1,non_coding_transcript_exon_variant,,ENST00000492670,;							MODERATE	262/1038	T88S	FANK1_HUMAN			Transcript		benign(0.011)	.	ENSP00000357682		CCDS31309.1			1	
SEMA4C	0	LGGM	GRCh37	2	97530103	97530103	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	49	11	.	.	ENST00000305476.5:c.979T>G	p.Ser327Ala	p.S327A	ENST00000305476	NM_017789.4	327	Tcg/Gcg	0	1	1	UPI00001A7981	0	getma.org/pdb.php?prot=SEM4C_HUMAN&from=53&to=481&var=S327A	ENST00000305476		ENSG00000168758	10731		60	3.18		HGNC	p.S327A		SEMA4C		SNV							ENST00000305476	protein_coding	getma.org/?cm=var&var=hg19,2,97530103,A,C&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF16,hmmpanther:PTHR11036,Gene3D:2.130.10.10,Pfam_domain:PF01403,SMART_domains:SM00630,Superfamily_domains:SSF101912		S/A		C	medium	1112/3545		getma.org/?cm=msa&ty=f&p=SEM4C_HUMAN&rb=53&re=481&var=S327A	deleterious(0)	Q8NBN9_HUMAN,Q6P5A5_HUMAN,Q53RE7_HUMAN,C9JV89_HUMAN,C9J4M7_HUMAN			YES	SEMA4C,missense_variant,p.Ser327Ala,ENST00000305476,NM_017789.4;SEMA4C,downstream_gene_variant,,ENST00000449330,;SEMA4C,downstream_gene_variant,,ENST00000442264,;SEMA4C,non_coding_transcript_exon_variant,,ENST00000482925,;SEMA4C,upstream_gene_variant,,ENST00000467747,;SEMA4C,upstream_gene_variant,,ENST00000474420,;							MODERATE	979/2502	S327A	SEM4C_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000306844		CCDS2029.1			1	
OGT	0	LGGM	GRCh37	X	70775931	70775931	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	41	12	.	.	ENST00000373719.3:c.1052G>A	p.Arg351His	p.R351H	ENST00000373719	NM_181673.2	351	cGt/cAt	0	1	1	UPI0000073C9F	0	getma.org/pdb.php?prot=OGT1_HUMAN&from=327&to=360&var=R351H	ENST00000373719		ENSG00000147162	8127		53	1.495		HGNC	p.R341H		OGT		SNV							ENST00000373701	protein_coding	getma.org/?cm=var&var=hg19,X,70775931,G,A&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF369,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028		R/H		A	low	1269/5461		getma.org/?cm=msa&ty=f&p=OGT1_HUMAN&rb=327&re=360&var=R351H	tolerated(0.16)	C9JZL3_HUMAN			YES	OGT,missense_variant,p.Arg351His,ENST00000373719,NM_181673.2,NM_181672.2;OGT,missense_variant,p.Arg341His,ENST00000373701,;OGT,downstream_gene_variant,,ENST00000455587,;OGT,non_coding_transcript_exon_variant,,ENST00000459760,;OGT,non_coding_transcript_exon_variant,,ENST00000488174,;OGT,non_coding_transcript_exon_variant,,ENST00000462638,;OGT,upstream_gene_variant,,ENST00000466181,;							MODERATE	1052/3141	R351H	OGT1_HUMAN			Transcript		benign(0.197)	.	ENSP00000362824		CCDS14414.1			1	
IGF1R	0	LGGM	GRCh37	15	99251197	99251197	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	42	12	.	.	ENST00000268035.6:c.501C>T	p.Asn167=	p.N167=	ENST00000268035	NM_000875.3	167	aaC/aaT	0	1	1	UPI000012D3EA	0		ENST00000268035		ENSG00000140443	5465		54			HGNC	p.N167N		IGF1R		SNV			1				ENST00000558762	protein_coding			Superfamily_domains:SSF52058,PIRSF_domain:PIRSF000620,Gene3D:3.80.20.20,hmmpanther:PTHR24416:SF106,hmmpanther:PTHR24416		N		T		1112/11803				H0YNR0_HUMAN,H0YMJ5_HUMAN			YES	IGF1R,synonymous_variant,p.=,ENST00000268035,NM_000875.3;IGF1R,synonymous_variant,p.=,ENST00000558762,;IGF1R,synonymous_variant,p.=,ENST00000558355,;IGF1R,non_coding_transcript_exon_variant,,ENST00000559925,;							LOW	501/4104		IGF1R_HUMAN			Transcript			.	ENSP00000268035		CCDS10378.1			1	
PDE2A	0	LGGM	GRCh37	11	72289541	72289541	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	16	12	.	.	ENST00000334456.5:c.2487A>C	p.Glu829Asp	p.E829D	ENST00000334456	NM_002599.4	829	gaA/gaC	0	1	1	UPI000003B340	0	getma.org/pdb.php?prot=PDE2A_HUMAN&from=655&to=892&var=E829D	ENST00000334456		ENSG00000186642	8777		28	3.58		HGNC	p.E573D		PDE2A		SNV							ENST00000376450	protein_coding	getma.org/?cm=var&var=hg19,11,72289541,T,G&fts=all		hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF102,Pfam_domain:PF00233,Gene3D:1.10.1300.10,Superfamily_domains:SSF109604,Prints_domain:PR00387		E/D		G	high	2733/4315		getma.org/?cm=msa&ty=f&p=PDE2A_HUMAN&rb=655&re=892&var=E829D	deleterious(0)	F5GXX2_HUMAN,C9JPD5_HUMAN			YES	PDE2A,missense_variant,p.Glu829Asp,ENST00000334456,NM_002599.4;PDE2A,missense_variant,p.Glu820Asp,ENST00000444035,;PDE2A,missense_variant,p.Glu573Asp,ENST00000376450,;PDE2A,missense_variant,p.Glu822Asp,ENST00000544570,NM_001243784.1,NM_001143839.3;PDE2A,missense_variant,p.Glu820Asp,ENST00000540345,NM_001146209.2;PDE2A,missense_variant,p.Glu714Asp,ENST00000418754,;PDE2A,downstream_gene_variant,,ENST00000420501,;PDE2A,downstream_gene_variant,,ENST00000441209,;PDE2A,downstream_gene_variant,,ENST00000542223,;PDE2A,non_coding_transcript_exon_variant,,ENST00000536918,;PDE2A,intron_variant,,ENST00000539367,;PDE2A,downstream_gene_variant,,ENST00000544239,;							MODERATE	2487/2826	E829D	PDE2A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000334910		CCDS8216.1			1	
OR1S2	0	LGGM	GRCh37	11	57970702	57970702	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	68	13	.	.	ENST00000302592.6:c.952A>G	p.Ile318Val	p.I318V	ENST00000302592	NM_001004459.1	318	Atc/Gtc	0	1	1	UPI0000041D68	0	NA	ENST00000302592		ENSG00000197887	15141		81	0.67		HGNC	p.I318V		OR1S2		SNV							ENST00000302592	protein_coding	getma.org/?cm=var&var=hg19,11,57970702,T,C&fts=all		hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		I/V		C	neutral	952/980		getma.org/?cm=msa&ty=f&p=OR1S2_HUMAN&rb=267&re=325&var=I318V	tolerated(0.3)				YES	OR1S2,missense_variant,p.Ile318Val,ENST00000302592,NM_001004459.1;							MODERATE	952/978	I318V	OR1S2_HUMAN			Transcript		benign(0.002)	.	ENSP00000305469		CCDS31545.1			1	
TRIO	0	LGGM	GRCh37	5	14363915	14363915	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	32	13	.	.	ENST00000344204.4:c.2466G>T	p.Thr822=	p.T822=	ENST00000344204	NM_007118.2	822	acG/acT	0	1	1	UPI000034ECE6	0		ENST00000344204		ENSG00000038382	12303		45			HGNC	p.T763T		TRIO		SNV			1				ENST00000512070	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104		T		T		2490/11100							YES	TRIO,synonymous_variant,p.=,ENST00000344204,NM_007118.2;TRIO,synonymous_variant,p.=,ENST00000537187,;TRIO,synonymous_variant,p.=,ENST00000513206,;TRIO,synonymous_variant,p.=,ENST00000509967,;TRIO,synonymous_variant,p.=,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;							LOW	2466/9294		TRIO_HUMAN			Transcript			.	ENSP00000339299		CCDS3883.1			1	
MUC17	0	LGGM	GRCh37	7	100677431	100677431	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	284	14	.	.	ENST00000306151.4:c.2734A>G	p.Thr912Ala	p.T912A	ENST00000306151	NM_001040105.1	912	Acc/Gcc	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		298	-0.205		HGNC	p.T912A		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100677431,A,G&fts=all				T/A		G	neutral	2798/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T912A		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Thr912Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr912Ala,ENST00000379439,;							MODERATE	2734/13482	T912A	MUC17_HUMAN			Transcript		unknown(0)	.	ENSP00000302716		CCDS34711.1			1	
CABLES1	0	LGGM	GRCh37	18	20794001	20794001	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	30	14	.	.	ENST00000256925.7:c.1071C>T	p.Arg357=	p.R357=	ENST00000256925	NM_001100619.2	357	cgC/cgT	0	1	1	UPI00004C2CAA	0		ENST00000256925		ENSG00000134508	25097		44			HGNC	p.R30R	rs747051389	CABLES1	6.10E-05	SNV							ENST00000579963	protein_coding			hmmpanther:PTHR22896,hmmpanther:PTHR22896:SF1,PIRSF_domain:PIRSF025798		R		T		1071/5002	4.50E-05			A7K6Y5_HUMAN			YES	CABLES1,synonymous_variant,p.=,ENST00000256925,NM_001100619.2;CABLES1,synonymous_variant,p.=,ENST00000420687,NM_138375.2;CABLES1,synonymous_variant,p.=,ENST00000400473,NM_001256438.1;CABLES1,synonymous_variant,p.=,ENST00000582882,;TMEM241,intron_variant,,ENST00000450466,;TMEM241,intron_variant,,ENST00000584625,;TMEM241,intron_variant,,ENST00000578790,;CABLES1,intron_variant,,ENST00000585061,;CABLES1,synonymous_variant,p.=,ENST00000579963,;TMEM241,intron_variant,,ENST00000581444,;							LOW	1071/1902		CABL1_HUMAN			Transcript			.	ENSP00000256925	3.31E-05	CCDS42417.1			1	
PPP1R17	0	LGGM	GRCh37	7	31732091	31732091	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	38	15	.	.	ENST00000342032.3:c.36C>T	p.Leu12=	p.L12=	ENST00000342032	NM_006658.4	12	ctC/ctT	0	1	1	UPI000006D182	0		ENST00000342032		ENSG00000106341	16973		53			HGNC	p.L12L		PPP1R17		SNV							ENST00000342032	protein_coding			hmmpanther:PTHR15387,hmmpanther:PTHR15387:SF0		L		T		664/2268							YES	PPP1R17,synonymous_variant,p.=,ENST00000342032,NM_006658.4;PPP1R17,synonymous_variant,p.=,ENST00000409146,NM_001145123.2;PPP1R17,upstream_gene_variant,,ENST00000498609,;							LOW	36/468		PPR17_HUMAN			Transcript			.	ENSP00000340125		CCDS5436.1			1	
HTR3E	0	LGGM	GRCh37	3	183824457	183824457	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	46	15	.	.	ENST00000440596.2:c.1425C>T	p.Thr475=	p.T475=	ENST00000440596	NM_001256614.1	475	acC/acT	0	1		UPI000156575F	0		ENST00000415389		ENSG00000186038	24005		61			HGNC	p.T434T	rs758778015,COSM4115644	HTR3E		SNV						0,1	ENST00000425359	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Gene3D:1.20.120.370,Superfamily_domains:SSF90112		T		T		1813/2139	1.50E-05			C9J420_HUMAN				HTR3E,synonymous_variant,p.=,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,synonymous_variant,p.=,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,synonymous_variant,p.=,ENST00000440596,NM_001256614.1;HTR3E,synonymous_variant,p.=,ENST00000436361,;HTR3E,synonymous_variant,p.=,ENST00000425359,;HTR3E,downstream_gene_variant,,ENST00000431041,;HTR3E-AS1,upstream_gene_variant,,ENST00000431427,;	0.000116				0,1		LOW	1347/1371		5HT3E_HUMAN			Transcript			.	ENSP00000401444	1.65E-05	CCDS58868.1			1	
OR6P1	0	LGGM	GRCh37	1	158532974	158532974	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	68	15	.	.	ENST00000334632.1:c.421G>A	p.Ala141Thr	p.A141T	ENST00000334632	NM_001160325.1	141	Gcc/Acc	0	1	1	UPI000004B1FF	0	NA	ENST00000334632		ENSG00000186440	15036		83	0		HGNC	p.A141T		OR6P1		SNV							ENST00000334632	protein_coding	getma.org/?cm=var&var=hg19,1,158532974,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF73,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/T		T	neutral	421/954		getma.org/?cm=msa&ty=f&p=OR6P1_HUMAN&rb=139&re=283&var=A141T	deleterious(0)				YES	OR6P1,missense_variant,p.Ala141Thr,ENST00000334632,NM_001160325.1;							MODERATE	421/954	A141T	OR6P1_HUMAN			Transcript		benign(0.016)	.	ENSP00000334721		CCDS53391.1			1	
SGCA	0	LGGM	GRCh37	17	48244954	48244954	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	37	15	.	.	ENST00000262018.3:c.169G>A	p.Ala57Thr	p.A57T	ENST00000262018	NM_000023.2	57	Gct/Act	0	1	1	UPI0000135907	0	NA	ENST00000262018		ENSG00000108823	10805		52	-1.1		HGNC	p.A57T	rs769778891,COSM4067559	SGCA	6.07E-05	SNV			1			0,1	ENST00000262018	protein_coding	getma.org/?cm=var&var=hg19,17,48244954,G,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00736,Pfam_domain:PF05510,Gene3D:2.60.40.10,hmmpanther:PTHR10132:SF1,hmmpanther:PTHR10132		A/T		A	neutral	205/1432		getma.org/?cm=msa&ty=f&p=SGCA_HUMAN&rb=6&re=387&var=A57T	tolerated(1)				YES	SGCA,missense_variant,p.Ala57Thr,ENST00000262018,NM_000023.2;SGCA,missense_variant,p.Ala57Thr,ENST00000543315,;SGCA,missense_variant,p.Ala57Thr,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.Ala57Thr,ENST00000513821,;SGCA,missense_variant,p.Arg5His,ENST00000512526,;SGCA,intron_variant,,ENST00000502555,;SGCA,intron_variant,,ENST00000514934,;HILS1,downstream_gene_variant,,ENST00000340499,;HILS1,downstream_gene_variant,,ENST00000545329,;					0,1		MODERATE	169/1164	A57T	SGCA_HUMAN			Transcript		benign(0.001)	.	ENSP00000262018	8.24E-06	CCDS32679.1			1	
SIPA1L3	0	LGGM	GRCh37	19	38655150	38655150	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	102	16	.	.	ENST00000222345.6:c.3812G>T	p.Ser1271Ile	p.S1271I	ENST00000222345	NM_015073.1	1271	aGc/aTc	0	1	1	UPI00001D8160	0	NA	ENST00000222345		ENSG00000105738	23801		118	2.02		HGNC	p.S1271I		SIPA1L3		SNV							ENST00000222345	protein_coding	getma.org/?cm=var&var=hg19,19,38655150,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15		S/I		T	medium	4321/7987		getma.org/?cm=msa&ty=f&p=SI1L3_HUMAN&rb=1229&re=1428&var=S1271I	deleterious(0)	Q8IUV1_HUMAN			YES	SIPA1L3,missense_variant,p.Ser1271Ile,ENST00000222345,NM_015073.1;SIPA1L3,upstream_gene_variant,,ENST00000595495,;							MODERATE	3812/5346	S1271I	SI1L3_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000222345		CCDS33007.1			1	
ZNF624	0	LGGM	GRCh37	17	16526080	16526080	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	32	17	.	.	ENST00000311331.7:c.2120G>C	p.Ser707Thr	p.S707T	ENST00000311331	NM_020787.3	707	aGt/aCt	0	1	1	UPI0000456A22	0	getma.org/pdb.php?prot=ZN624_HUMAN&from=682&to=707&var=S707T	ENST00000311331		ENSG00000197566	29254		49	-0.195		HGNC	p.S707T		ZNF624		SNV							ENST00000311331	protein_coding	getma.org/?cm=var&var=hg19,17,16526080,C,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF207,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/T		G	neutral	2212/4241		getma.org/?cm=msa&ty=f&p=ZN624_HUMAN&rb=662&re=727&var=S707T	tolerated(0.65)	J3QKY7_HUMAN,C9J5H1_HUMAN			YES	ZNF624,missense_variant,p.Ser707Thr,ENST00000311331,NM_020787.3;ZNF624,non_coding_transcript_exon_variant,,ENST00000579528,;AC005822.1,upstream_gene_variant,,ENST00000414124,;							MODERATE	2120/2598	S707T	ZN624_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000310472		CCDS11180.1			1	
MPDZ	0	LGGM	GRCh37	9	13168525	13168525	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	149	17	.	.	ENST00000541718.1:c.3094A>T	p.Ile1032Phe	p.I1032F	ENST00000541718	NM_001261407.1	1032	Atc/Ttc	0	1		UPI0000211133	0	getma.org/pdb.php?prot=MPDZ_HUMAN&from=1008&to=1082&var=I1032F	ENST00000319217		ENSG00000107186	7208		166	0.195		HGNC	p.I1032F		MPDZ		SNV			1				ENST00000536827	protein_coding	getma.org/?cm=var&var=hg19,9,13168525,T,A&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156		I/F		A	neutral	3342/7722		getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=1008&re=1082&var=I1032F	deleterious(0)	B3KRN5_HUMAN,B3KQC9_HUMAN				MPDZ,missense_variant,p.Ile1032Phe,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Ile1032Phe,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Ile1032Phe,ENST00000381022,;MPDZ,missense_variant,p.Ile1032Phe,ENST00000381015,;MPDZ,missense_variant,p.Ile1032Phe,ENST00000546205,;MPDZ,missense_variant,p.Ile1032Phe,ENST00000447879,;MPDZ,missense_variant,p.Ile1032Phe,ENST00000536827,;MPDZ,missense_variant,p.Ile38Phe,ENST00000545857,;MPDZ,upstream_gene_variant,,ENST00000538841,;MPDZ,upstream_gene_variant,,ENST00000433359,;MPDZ,upstream_gene_variant,,ENST00000542239,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;							MODERATE	3094/6213	I1032F	MPDZ_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000320006					1	
MCM5	0	LGGM	GRCh37	22	35799236	35799236	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	28	18	.	.	ENST00000216122.4:c.204C>G	p.Tyr68Ter	p.Y68*	ENST00000216122	NM_006739.3	68	taC/taG	0	1	1	UPI000000D8F4	0	NA	ENST00000216122		ENSG00000100297	6948		46	0		HGNC	p.Y68X		MCM5		SNV							ENST00000216122	protein_coding	getma.org/?cm=var&var=hg19,22,35799236,C,G&fts=all		hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Gene3D:1ltlA01,Pfam_domain:PF14551,Superfamily_domains:SSF50249		Y/*		G	NA	358/3534		NA		B1AHB2_HUMAN,B1AHB0_HUMAN			YES	MCM5,stop_gained,p.Tyr68Ter,ENST00000216122,NM_006739.3;MCM5,stop_gained,p.Tyr68Ter,ENST00000382011,;MCM5,stop_gained,p.Tyr100Ter,ENST00000416905,;MCM5,intron_variant,,ENST00000444778,;MCM5,intron_variant,,ENST00000417343,;MCM5,3_prime_UTR_variant,,ENST00000451351,;							HIGH	204/2205	Y68*	MCM5_HUMAN			Transcript			.	ENSP00000216122		CCDS13915.1			1	
FAM179A	0	LGGM	GRCh37	2	29240167	29240167	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	19	20	.	.	ENST00000379558.4:c.1192G>A	p.Glu398Lys	p.E398K	ENST00000379558	NM_199280.2	398	Gaa/Aaa	0	1	1	UPI00014F7B81	0	NA	ENST00000379558		ENSG00000189350	33715		39	1.04		HGNC	p.E398K		FAM179A		SNV							ENST00000379558	protein_coding	getma.org/?cm=var&var=hg19,2,29240167,G,A&fts=all		hmmpanther:PTHR21567:SF31,hmmpanther:PTHR21567		E/K		A	low	1543/12691		getma.org/?cm=msa&ty=f&p=F179A_HUMAN&rb=235&re=434&var=E398K	deleterious(0.04)	C9JLI7_HUMAN,C9JJW1_HUMAN,B5MCN5_HUMAN			YES	FAM179A,missense_variant,p.Glu398Lys,ENST00000379558,NM_199280.2;FAM179A,missense_variant,p.Glu398Lys,ENST00000403861,;FAM179A,intron_variant,,ENST00000401723,;FAM179A,upstream_gene_variant,,ENST00000440012,;FAM179A,intron_variant,,ENST00000465300,;							MODERATE	1192/3060	E398K	F179A_HUMAN			Transcript		benign(0.367)	.	ENSP00000368876		CCDS1769.2			1	
C10orf71	0	LGGM	GRCh37	10	50532872	50532872	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	55	21	.	.	ENST00000374144.3:c.2282G>T	p.Ser761Ile	p.S761I	ENST00000374144		761	aGt/aTt	0	1	1	UPI0000161572	0	NA	ENST00000374144		ENSG00000177354	26973		76	0.895		HGNC	p.S761I		C10orf71		SNV							ENST00000374144	protein_coding	getma.org/?cm=var&var=hg19,10,50532872,G,T&fts=all				S/I		T	low	2570/5230		getma.org/?cm=msa&ty=f&p=CJ071_HUMAN&rb=700&re=899&var=S761I	deleterious(0.01)				YES	C10orf71,missense_variant,p.Ser761Ile,ENST00000374144,;C10orf71,intron_variant,,ENST00000323868,NM_001135196.1;							MODERATE	2282/4308	S761I	CJ071_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000363259		CCDS44387.1			1	
ATRX	0	LGGM	GRCh37	X	76907719	76907719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	102	21	.	.	ENST00000373344.5:c.4442G>A	p.Arg1481Gln	p.R1481Q	ENST00000373344	NM_000489.3	1481	cGg/cAg	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		123	2.095		HGNC	p.R1481Q		ATRX		SNV			1				ENST00000373344	protein_coding	getma.org/?cm=var&var=hg19,X,76907719,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		R/Q		T	medium	4657/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=1294&re=1493&var=R1481Q		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Arg1481Gln,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Arg1443Gln,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;							MODERATE	4442/7479	R1481Q	ATRX_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000362441		CCDS14434.1			1	
KIAA1239	0	LGGM	GRCh37	4	37445312	37445312	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	76	24	.	.	ENST00000309447.5:c.1702G>T	p.Glu568Ter	p.E568*	ENST00000309447	NM_001144990.1	568	Gag/Tag	0	1	1	UPI00006C0875	0	NA	ENST00000309447		ENSG00000174145	29229		100	0		HGNC	p.E568X		KIAA1239		SNV							ENST00000309447	protein_coding	getma.org/?cm=var&var=hg19,4,37445312,G,T&fts=all		hmmpanther:PTHR19857,hmmpanther:PTHR19857:SF18,Superfamily_domains:SSF52540		E/*		T	NA	2550/8325		NA					YES	KIAA1239,stop_gained,p.Glu568Ter,ENST00000309447,NM_001144990.1;							HIGH	1702/5229	E568*	K1239_HUMAN			Transcript			.	ENSP00000309501		CCDS47040.1			1	
CCSER1	0	LGGM	GRCh37	4	91229669	91229669	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	132	25	.	.	ENST00000509176.1:c.234T>A	p.Pro78=	p.P78=	ENST00000509176	NM_001145065.1	78	ccT/ccA	0	1	1	UPI00005A6104	0		ENST00000509176		ENSG00000184305	29349		157			HGNC	p.P78P		CCSER1		SNV							ENST00000432775	protein_coding			hmmpanther:PTHR22461,hmmpanther:PTHR22461:SF1		P		A		522/5847							YES	CCSER1,synonymous_variant,p.=,ENST00000509176,NM_001145065.1;CCSER1,synonymous_variant,p.=,ENST00000432775,NM_207491.2;CCSER1,synonymous_variant,p.=,ENST00000333691,;CCSER1,synonymous_variant,p.=,ENST00000505073,;CCSER1,upstream_gene_variant,,ENST00000508550,;CCSER1,upstream_gene_variant,,ENST00000508086,;CCSER1,upstream_gene_variant,,ENST00000514352,;							LOW	234/2703		CCSE1_HUMAN			Transcript			.	ENSP00000425040		CCDS47099.1			1	
GRIPAP1	0	LGGM	GRCh37	X	48853675	48853675	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	74	25	.	.	ENST00000376441.1:c.293C>G	p.Ala98Gly	p.A98G	ENST00000376441	NM_020137.3	98	gCc/gGc	0	1		UPI000035AC77	0	NA	ENST00000376423		ENSG00000068400	18706		99	1.245		HGNC	p.A98G	rs371110226,COSM757108	GRIPAP1		SNV	C:0					0,1	ENST00000376441	protein_coding	getma.org/?cm=var&var=hg19,X,48853675,G,C&fts=all		hmmpanther:PTHR18978,hmmpanther:PTHR18978:SF1		A/G	C:0.0001	C	low	326/3255		getma.org/?cm=msa&ty=f&p=GRAP1_HUMAN&rb=1&re=329&var=A98G	tolerated(0.19)					GRIPAP1,missense_variant,p.Ala98Gly,ENST00000376423,NM_207672.1;GRIPAP1,missense_variant,p.Ala98Gly,ENST00000376441,NM_020137.3;GRIPAP1,missense_variant,p.Ala98Gly,ENST00000376425,;GRIPAP1,intron_variant,,ENST00000376444,;GRIPAP1,downstream_gene_variant,,ENST00000480041,;GRIPAP1,downstream_gene_variant,,ENST00000495258,;					0,1		MODERATE	293/1878	A98G	GRAP1_HUMAN			Transcript		possibly_damaging(0.693)	.	ENSP00000365606					1	
ABCA13	0	LGGM	GRCh37	7	48312962	48312962	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	71	27	.	.	ENST00000435803.1:c.3699T>C	p.Asp1233=	p.D1233=	ENST00000435803	NM_152701.3	1233	gaT/gaC	0	1	1	UPI00001A95EA	0		ENST00000435803		ENSG00000179869	14638		98			HGNC	p.D1233D		ABCA13		SNV							ENST00000435803	protein_coding			hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		D		C		3723/17184							YES	ABCA13,synonymous_variant,p.=,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							LOW	3699/15177		ABCAD_HUMAN			Transcript			.	ENSP00000411096		CCDS47584.1			1	
ZFHX4	0	LGGM	GRCh37	8	77618141	77618141	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	40	28	.	.	ENST00000521891.2:c.1818C>T	p.Asp606=	p.D606=	ENST00000521891	NM_024721.4	606	gaC/gaT	0	1	1	UPI0000424CC7	0		ENST00000521891		ENSG00000091656	30939		68			HGNC	p.D606D	COSM1458257	ZFHX4		SNV						1	ENST00000521891	protein_coding			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg		D		T		2266/14019				Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	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,,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,;					1		LOW	1818/10851					Transcript			.	ENSP00000430497		CCDS47878.2			1	
MCTP2	0	LGGM	GRCh37	15	94983487	94983487	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104362	H104362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	52	30	.	.	ENST00000357742.4:c.2168G>A	p.Arg723Lys	p.R723K	ENST00000357742	NM_018349.3	723	aGa/aAa	0	1	1	UPI0000D613A2	0	NA	ENST00000357742		ENSG00000140563	25636		82	0.755		HGNC	p.R723K		MCTP2		SNV			1				ENST00000357742	protein_coding	getma.org/?cm=var&var=hg19,15,94983487,G,A&fts=all		hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5		R/K		A	neutral	2168/3965		getma.org/?cm=msa&ty=f&p=MCTP2_HUMAN&rb=690&re=857&var=R723K	tolerated(0.38)	Q9NPN6_HUMAN			YES	MCTP2,missense_variant,p.Arg723Lys,ENST00000357742,NM_018349.3;MCTP2,intron_variant,,ENST00000451018,NM_001159643.1;MCTP2,3_prime_UTR_variant,,ENST00000456504,;							MODERATE	2168/2637	R723K	MCTP2_HUMAN			Transcript		benign(0.003)	.	ENSP00000350377		CCDS32338.1			1	
STAMBP	0	LGGM	GRCh37	2	74086427	74086427	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	150	35	.	.	ENST00000394070.2:c.1052C>G	p.Thr351Ser	p.T351S	ENST00000394070	NM_213622.2	351	aCt/aGt	0	1		UPI0000038DA0	0	getma.org/pdb.php?prot=STABP_HUMAN&from=252&to=361&var=T351S	ENST00000339566		ENSG00000124356	16950		185	3.685		HGNC	p.T351S	rs774018752	STAMBP		SNV			1	0.000192			ENST00000394073	protein_coding	getma.org/?cm=var&var=hg19,2,74086427,C,G&fts=all		hmmpanther:PTHR12947,hmmpanther:PTHR12947:SF8,Gene3D:3.40.140.10,Pfam_domain:PF01398,SMART_domains:SM00232,Superfamily_domains:0048572		T/S		G	high	1102/1949		getma.org/?cm=msa&ty=f&p=STABP_HUMAN&rb=252&re=361&var=T351S	deleterious(0.01)	C9JZ93_HUMAN,C9JK83_HUMAN,C9JEK5_HUMAN				STAMBP,missense_variant,p.Thr351Ser,ENST00000394070,NM_213622.2;STAMBP,missense_variant,p.Thr351Ser,ENST00000394073,NM_006463.4;STAMBP,missense_variant,p.Thr351Ser,ENST00000339566,NM_201647.2;STAMBP,missense_variant,p.Thr351Ser,ENST00000409707,;STAMBP,non_coding_transcript_exon_variant,,ENST00000486458,;STAMBP,upstream_gene_variant,,ENST00000487811,;							MODERATE	1052/1275	T351S	STABP_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000344742	1.65E-05	CCDS1929.1			1	
PDGFA	0	LGGM	GRCh37	7	540830	540830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	127	39	.	.	ENST00000354513.5:c.503A>G	p.Gln168Arg	p.Q168R	ENST00000354513	NM_002607.5	168	cAg/cGg	0	1	1	UPI00001314A2	0	getma.org/pdb.php?prot=PDGFA_HUMAN&from=96&to=179&var=Q168R	ENST00000354513		ENSG00000197461	8799		166	0.46		HGNC	p.Q168R		PDGFA		SNV							ENST00000402802	protein_coding	getma.org/?cm=var&var=hg19,7,540830,T,C&fts=all		Superfamily_domains:SSF57501,SMART_domains:SM00141,Gene3D:2.10.90.10,Pfam_domain:PF00341,hmmpanther:PTHR11633,hmmpanther:PTHR11633:SF3,PROSITE_profiles:PS50278		Q/R		C	neutral	896/1308		getma.org/?cm=msa&ty=f&p=PDGFA_HUMAN&rb=96&re=179&var=Q168R	tolerated(0.35)	Q9UGN0_HUMAN			YES	PDGFA,missense_variant,p.Gln168Arg,ENST00000402802,NM_033023.4;PDGFA,missense_variant,p.Gln168Arg,ENST00000354513,NM_002607.5;PDGFA,missense_variant,p.Gln177Arg,ENST00000400761,;PDGFA,non_coding_transcript_exon_variant,,ENST00000482462,;							MODERATE	503/636	Q168R	PDGFA_HUMAN			Transcript		possibly_damaging(0.552)	.	ENSP00000346508		CCDS34578.1			1	
OC90	0	LGGM	GRCh37	8	133048631	133048631	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	115	39	.	.	ENST00000254627.3:c.679+1054T>C		*227*	ENST00000254627	NM_001080399.2			0	1	1	UPI000192B908	0		ENST00000603859		ENSG00000258417	8100		154			Uniprot_gn	p.T238T		OC90		SNV							ENST00000443356	protein_coding							G		-/1782							YES	OC90,synonymous_variant,p.=,ENST00000262283,;OC90,synonymous_variant,p.=,ENST00000443356,;OC90,intron_variant,,ENST00000603859,;OC90,intron_variant,,ENST00000254627,NM_001080399.2;							MODIFIER	-/1434					Transcript			.	ENSP00000473802		CCDS47919.1			1	
WDR87	0	LGGM	GRCh37	19	38378117	38378117	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	80	47	.	.	ENST00000303868.5:c.6077T>C	p.Met2026Thr	p.M2026T	ENST00000303868	NM_031951.3	2026	aTg/aCg	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		127	-0.55		HGNC	p.M2026T		WDR87		SNV							ENST00000303868	protein_coding	getma.org/?cm=var&var=hg19,19,38378117,A,G&fts=all		hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		M/T		G	neutral	6302/8847		getma.org/?cm=msa&ty=f&p=WDR87_HUMAN&rb=1311&re=2379&var=M2026T		B4DXE9_HUMAN			YES	WDR87,missense_variant,p.Met2065Thr,ENST00000447313,;WDR87,missense_variant,p.Met2026Thr,ENST00000303868,NM_031951.3;							MODERATE	6077/8622	M2026T	WDR87_HUMAN			Transcript		benign(0.001)	.	ENSP00000368025		CCDS46063.1			1	
WDR87	0	LGGM	GRCh37	19	38376542	38376542	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104362	H104362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	71	49	.	.	ENST00000303868.5:c.7652A>T	p.Gln2551Leu	p.Q2551L	ENST00000303868	NM_031951.3	2551	cAg/cTg	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		120	0.345		HGNC	p.Q2551L		WDR87		SNV							ENST00000303868	protein_coding	getma.org/?cm=var&var=hg19,19,38376542,T,A&fts=all				Q/L		A	neutral	7877/8847		getma.org/?cm=msa&ty=f&p=WDR87_HUMAN&rb=2380&re=2579&var=Q2551L		B4DXE9_HUMAN			YES	WDR87,missense_variant,p.Gln2590Leu,ENST00000447313,;WDR87,missense_variant,p.Gln2551Leu,ENST00000303868,NM_031951.3;							MODERATE	7652/8622	Q2551L	WDR87_HUMAN			Transcript		unknown(0)	.	ENSP00000368025		CCDS46063.1			1	
OR7E24	0	LGGM	GRCh37	19	9362147	9362147	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104362	H104362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	130	59	.	.	ENST00000456448.1:c.428C>T	p.Ala143Val	p.A143V	ENST00000456448	NM_001079935.1	143	gCc/gTc	0	1	1	UPI00003B2886	0	getma.org/pdb.php?prot=O7E24_HUMAN&from=1&to=156&var=A143V	ENST00000456448		ENSG00000237521	8396		189	4.065		HGNC	p.A143V		OR7E24		SNV							ENST00000456448	protein_coding	getma.org/?cm=var&var=hg19,19,9362147,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF173,Superfamily_domains:SSF81321		A/V		T	high	542/1215		getma.org/?cm=msa&ty=f&p=O7E24_HUMAN&rb=1&re=156&var=A143V	deleterious(0.02)	O43789_HUMAN			YES	OR7E24,missense_variant,p.Ala143Val,ENST00000456448,NM_001079935.1;							MODERATE	428/1020	A143V	O7E24_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000387523		CCDS45955.1			1	
ZNF211	0	LGGM	GRCh37	19	58153415	58153415	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104362	H104362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104362N.bam, H104362T.bam	Illumina HiSeq	77	69	.	.	ENST00000299871.5:c.1756A>T	p.Ser586Cys	p.S586C	ENST00000299871	NM_001265597.1	586	Agt/Tgt	0	1		UPI0000225CC3	0	getma.org/pdb.php?prot=ZN211_HUMAN&from=521&to=522&var=S521C	ENST00000347302		ENSG00000121417	13003		146	1.585		HGNC	p.S521C		ZNF211		SNV							ENST00000347302	protein_coding	getma.org/?cm=var&var=hg19,19,58153415,A,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF201,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/C		T	low	1740/2472		getma.org/?cm=msa&ty=f&p=ZN211_HUMAN&rb=491&re=552&var=S521C	deleterious(0.01)					ZNF211,missense_variant,p.Ser533Cys,ENST00000544273,;ZNF211,missense_variant,p.Ser586Cys,ENST00000299871,NM_001265597.1;ZNF211,missense_variant,p.Ser521Cys,ENST00000347302,NM_198855.2;ZNF211,missense_variant,p.Ser534Cys,ENST00000240731,NM_006385.3;ZNF211,missense_variant,p.Ser512Cys,ENST00000541801,NM_001265598.1;ZNF211,missense_variant,p.Ser460Cys,ENST00000391703,NM_001265600.1;ZNF211,missense_variant,p.Ser512Cys,ENST00000254182,NM_001265599.1;ZNF211,missense_variant,p.Ser525Cys,ENST00000407202,;ZNF211,missense_variant,p.Ser525Cys,ENST00000420680,;ZNF211,3_prime_UTR_variant,,ENST00000540556,;ZNF211,3_prime_UTR_variant,,ENST00000535785,;							MODERATE	1561/1695	S521C	ZN211_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000339562		CCDS12957.1			1	
MUTYH	0	LGGM	GRCh37	1	45798129	45798129	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	9	2	.	.	ENST00000372115.3:c.680G>T	p.Arg227Leu	p.R227L	ENST00000372115	NM_001048171.1	227	cGg/cTg	0	1	1	UPI000006EB4F	0	getma.org/pdb.php?prot=MUTYH_HUMAN&from=129&to=265&var=R238L	ENST00000372098		ENSG00000132781	7527		11	4.505		HGNC	p.R213L		MUTYH		SNV			1				ENST00000372104	protein_coding	getma.org/?cm=var&var=hg19,1,45798129,C,A&fts=all		Superfamily_domains:SSF48150,SMART_domains:SM00478,Pfam_domain:PF00730,Gene3D:1.10.1670.10,hmmpanther:PTHR10359:SF24,hmmpanther:PTHR10359		R/L		A	high	847/1839		getma.org/?cm=msa&ty=f&p=MUTYH_HUMAN&rb=129&re=265&var=R238L	deleterious(0)	E5KP26_HUMAN,Q8TDZ3_HUMAN,Q5T413_HUMAN,D3DPZ6_HUMAN			YES	MUTYH,missense_variant,p.Arg241Leu,ENST00000450313,NM_012222.2,NM_001128425.1;MUTYH,missense_variant,p.Arg227Leu,ENST00000372115,NM_001048171.1;MUTYH,missense_variant,p.Arg238Leu,ENST00000372098,;MUTYH,missense_variant,p.Arg213Leu,ENST00000372104,;MUTYH,missense_variant,p.Arg228Leu,ENST00000372110,;MUTYH,missense_variant,p.Arg224Leu,ENST00000372100,;MUTYH,missense_variant,p.Arg213Leu,ENST00000355498,NM_001048172.1,NM_001048173.1;MUTYH,missense_variant,p.Arg214Leu,ENST00000354383,;MUTYH,missense_variant,p.Arg224Leu,ENST00000448481,;MUTYH,missense_variant,p.Arg213Leu,ENST00000456914,NM_001048174.1;MUTYH,missense_variant,p.Arg227Leu,ENST00000528013,;MUTYH,missense_variant,p.Arg224Leu,ENST00000435155,;MUTYH,missense_variant,p.Arg85Leu,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,missense_variant,p.Arg11Leu,ENST00000467459,;MUTYH,synonymous_variant,p.=,ENST00000533178,;MUTYH,synonymous_variant,p.=,ENST00000470256,;MUTYH,3_prime_UTR_variant,,ENST00000481571,;MUTYH,3_prime_UTR_variant,,ENST00000475516,;MUTYH,3_prime_UTR_variant,,ENST00000467940,;MUTYH,3_prime_UTR_variant,,ENST00000461495,;MUTYH,3_prime_UTR_variant,,ENST00000525160,;MUTYH,non_coding_transcript_exon_variant,,ENST00000462388,;MUTYH,non_coding_transcript_exon_variant,,ENST00000478796,;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,,ENST00000474703,;MUTYH,upstream_gene_variant,,ENST00000485271,;MUTYH,upstream_gene_variant,,ENST00000466231,;							MODERATE	713/1641	R238L	MUTYH_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000361170		CCDS520.1			1	
NUP93	0	LGGM	GRCh37	16	56857680	56857680	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	12	2	.	.	ENST00000308159.5:c.716C>A	p.Thr239Lys	p.T239K	ENST00000308159	NM_014669.4	239	aCg/aAg	0	1	1	UPI0000044E0C	0	NA	ENST00000308159		ENSG00000102900	28958		14	0		HGNC	p.T32K		NUP93		SNV							ENST00000563858	protein_coding	getma.org/?cm=var&var=hg19,16,56857680,C,A&fts=all		Pfam_domain:PF04097,hmmpanther:PTHR11225		T/K		A	neutral	837/2741		getma.org/?cm=msa&ty=f&p=NUP93_HUMAN&rb=202&re=804&var=T239K	tolerated(1)	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN			YES	NUP93,missense_variant,p.Thr116Lys,ENST00000564887,NM_001242795.1;NUP93,missense_variant,p.Thr116Lys,ENST00000542526,NM_001242796.1;NUP93,missense_variant,p.Thr239Lys,ENST00000569842,;NUP93,missense_variant,p.Thr239Lys,ENST00000308159,NM_014669.4;NUP93,missense_variant,p.Thr32Lys,ENST00000563858,;NUP93,missense_variant,p.Thr116Lys,ENST00000569863,;NUP93,missense_variant,p.Thr116Lys,ENST00000567641,;NUP93,downstream_gene_variant,,ENST00000566727,;							MODERATE	716/2460	T239K	NUP93_HUMAN			Transcript		benign(0.001)	.	ENSP00000310668		CCDS10769.1			1	
NME3	0	LGGM	GRCh37	16	1820907	1820907	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	7	2	.	.	ENST00000219302.3:c.367G>T	p.Gly123Trp	p.G123W	ENST00000219302	NM_002513.2	123	Ggg/Tgg	0	1	1	UPI000012FE88	0	getma.org/pdb.php?prot=NDK3_HUMAN&from=22&to=156&var=G123W	ENST00000219302		ENSG00000103024	7851		9	3.955		HGNC	p.G123W		NME3		SNV							ENST00000219302	protein_coding	getma.org/?cm=var&var=hg19,16,1820907,C,A&fts=all		Gene3D:3.30.70.141,HAMAP:MF_00451,Pfam_domain:PF00334,Prints_domain:PR01243,hmmpanther:PTHR11349,hmmpanther:PTHR11349:SF54,SMART_domains:SM00562,Superfamily_domains:SSF54919		G/W		A	high	563/1069		getma.org/?cm=msa&ty=f&p=NDK3_HUMAN&rb=22&re=156&var=G123W	deleterious(0)	Q9NUF9_HUMAN,H3BPR2_HUMAN			YES	NME3,missense_variant,p.Gly123Trp,ENST00000219302,NM_002513.2;NME3,missense_variant,p.Gly39Trp,ENST00000563498,;NME3,synonymous_variant,p.=,ENST00000564628,;MAPK8IP3,downstream_gene_variant,,ENST00000250894,NM_015133.3;MAPK8IP3,downstream_gene_variant,,ENST00000356010,NM_001040439.1;EME2,upstream_gene_variant,,ENST00000307394,;EME2,upstream_gene_variant,,ENST00000568449,NM_001257370.1;MRPS34,downstream_gene_variant,,ENST00000177742,;MRPS34,downstream_gene_variant,,ENST00000397375,NM_023936.1;NME3,3_prime_UTR_variant,,ENST00000568561,;NME3,3_prime_UTR_variant,,ENST00000563854,;NME3,non_coding_transcript_exon_variant,,ENST00000561637,;NME3,non_coding_transcript_exon_variant,,ENST00000566600,;NME3,non_coding_transcript_exon_variant,,ENST00000565379,;NME3,non_coding_transcript_exon_variant,,ENST00000563367,;NME3,non_coding_transcript_exon_variant,,ENST00000567271,;NME3,non_coding_transcript_exon_variant,,ENST00000564252,;EME2,upstream_gene_variant,,ENST00000570069,;EME2,upstream_gene_variant,,ENST00000561903,;MAPK8IP3,downstream_gene_variant,,ENST00000563868,;MAPK8IP3,downstream_gene_variant,,ENST00000564868,;MRPS34,downstream_gene_variant,,ENST00000569585,;EME2,upstream_gene_variant,,ENST00000564182,;MAPK8IP3,downstream_gene_variant,,ENST00000566064,;MAPK8IP3,downstream_gene_variant,,ENST00000567352,;EME2,upstream_gene_variant,,ENST00000561564,;EME2,upstream_gene_variant,,ENST00000565326,;MAPK8IP3,downstream_gene_variant,,ENST00000562042,;							MODERATE	367/510	G123W	NDK3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000219302		CCDS10443.1			1	
CDIPT	0	LGGM	GRCh37	16	29873990	29873990	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	3	2	.	.	ENST00000219789.6:c.95G>T	p.Cys32Phe	p.C32F	ENST00000219789	NM_006319.3	32	tGc/tTc	0	1	1	UPI0000131B1C	0	NA	ENST00000219789		ENSG00000103502	1769		5	0.6		HGNC	p.C32F		CDIPT		SNV							ENST00000569956	protein_coding	getma.org/?cm=var&var=hg19,16,29873990,C,A&fts=all		PIRSF_domain:PIRSF000848,Pfam_domain:PF01066,hmmpanther:PTHR15362,hmmpanther:PTHR15362:SF4		C/F		A	neutral	974/2353		getma.org/?cm=msa&ty=f&p=CDIPT_HUMAN&rb=7&re=114&var=C32F	tolerated(0.1)	B3KSW0_HUMAN,A8K3L7_HUMAN			YES	CDIPT,missense_variant,p.Cys32Phe,ENST00000219789,NM_006319.3;CDIPT,missense_variant,p.Cys32Phe,ENST00000569956,;CDIPT,missense_variant,p.Cys32Phe,ENST00000570016,;CDIPT,missense_variant,p.Cys32Phe,ENST00000563415,;CDIPT,intron_variant,,ENST00000566113,NM_001286585.1;CDIPT,upstream_gene_variant,,ENST00000561555,;CDIPT-AS1,upstream_gene_variant,,ENST00000398859,;CDIPT-AS1,upstream_gene_variant,,ENST00000565014,;CDIPT,upstream_gene_variant,,ENST00000567459,;CDIPT,non_coding_transcript_exon_variant,,ENST00000563893,;CDIPT,non_coding_transcript_exon_variant,,ENST00000562041,;CDIPT,intron_variant,,ENST00000564296,;							MODERATE	95/642	C32F	CDIPT_HUMAN			Transcript		benign(0.003)	.	ENSP00000219789		CCDS10657.1			1	
TOR4A	0	LGGM	GRCh37	9	140174148	140174148	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	10	2	.	.	ENST00000357503.2:c.1007C>A	p.Ala336Glu	p.A336E	ENST00000357503	NM_017723.2	336	gCg/gAg	0	1	1	UPI00004577EC	0	NA	ENST00000357503		ENSG00000198113	25981		12	0.41		HGNC	p.A336E		TOR4A		SNV							ENST00000357503	protein_coding	getma.org/?cm=var&var=hg19,9,140174148,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10760:SF1,hmmpanther:PTHR10760		A/E		A	neutral	1203/4148		getma.org/?cm=msa&ty=f&p=TOR4A_HUMAN&rb=201&re=400&var=A336E	tolerated(1)				YES	TOR4A,missense_variant,p.Ala336Glu,ENST00000357503,NM_017723.2;							MODERATE	1007/1272	A336E	TOR4A_HUMAN			Transcript		benign(0.021)	.	ENSP00000350102		CCDS7041.1			1	
KLHL22	0	LGGM	GRCh37	22	20796426	20796426	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	6	2	.	.	ENST00000328879.4:c.1839G>T	p.Pro613=	p.P613=	ENST00000328879	NM_032775.3	613	ccG/ccT	0	1	1	UPI0000072F37	0		ENST00000328879		ENSG00000099910	25888		8			HGNC	p.P470P		KLHL22		SNV							ENST00000440659	protein_coding			hmmpanther:PTHR24412:SF180,hmmpanther:PTHR24412		P		A		1996/2616				C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN			YES	KLHL22,synonymous_variant,p.=,ENST00000328879,NM_032775.3;KLHL22,synonymous_variant,p.=,ENST00000440659,;SCARF2,upstream_gene_variant,,ENST00000405555,NM_182895.2;SCARF2,upstream_gene_variant,,ENST00000266214,NM_153334.4;KLHL22,intron_variant,,ENST00000429594,;							LOW	1839/1905		KLH22_HUMAN			Transcript			.	ENSP00000331682		CCDS13780.1			1	
DMD	0	LGGM	GRCh37	X	31462724	31462724	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	18	2	.	.	ENST00000357033.4:c.8958G>T	p.Ala2986=	p.A2986=	ENST00000357033	NM_004007.2	2986	gcG/gcT	0	1	1	UPI000049E111	0		ENST00000357033		ENSG00000198947	2928		20			HGNC	p.A526A		DMD		SNV			1				ENST00000359836	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		A		A		9165/13956				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			YES	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,synonymous_variant,p.=,ENST00000378707,NM_004013.2,NM_004014.2;DMD,synonymous_variant,p.=,ENST00000359836,NM_004022.2;DMD,synonymous_variant,p.=,ENST00000541735,NM_004020.3;DMD,synonymous_variant,p.=,ENST00000343523,NM_004023.2;DMD,synonymous_variant,p.=,ENST00000358062,;DMD,synonymous_variant,p.=,ENST00000474231,NM_004021.2;							LOW	8958/11058					Transcript			.	ENSP00000354923		CCDS14233.1			1	
DUS1L	0	LGGM	GRCh37	17	80018648	80018648	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	5	2	.	.	ENST00000354321.7:c.951C>A	p.Ser317=	p.S317=	ENST00000354321		317	tcC/tcA	0	1		UPI00002004B5	0		ENST00000306796		ENSG00000169718	30086		7			HGNC	p.S317S		DUS1L		SNV							ENST00000306796	protein_coding			hmmpanther:PTHR11082:SF5,hmmpanther:PTHR11082		S		T		988/2068				J3QLE4_HUMAN				DUS1L,synonymous_variant,p.=,ENST00000354321,;DUS1L,synonymous_variant,p.=,ENST00000306796,NM_022156.4;DUS1L,synonymous_variant,p.=,ENST00000538833,;DUS1L,synonymous_variant,p.=,ENST00000542088,;GPS1,downstream_gene_variant,,ENST00000392358,NM_212492.1;GPS1,downstream_gene_variant,,ENST00000320548,;GPS1,downstream_gene_variant,,ENST00000578552,NM_004127.4;GPS1,downstream_gene_variant,,ENST00000306823,;GPS1,downstream_gene_variant,,ENST00000355130,;DUS1L,downstream_gene_variant,,ENST00000582529,;DUS1L,downstream_gene_variant,,ENST00000578907,;DUS1L,downstream_gene_variant,,ENST00000578176,;DUS1L,downstream_gene_variant,,ENST00000577907,;GPS1,downstream_gene_variant,,ENST00000578168,;DUS1L,upstream_gene_variant,,ENST00000577574,;DUS1L,missense_variant,p.Pro132Gln,ENST00000580731,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578846,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578264,;DUS1L,non_coding_transcript_exon_variant,,ENST00000582407,;GPS1,downstream_gene_variant,,ENST00000392357,;GPS1,downstream_gene_variant,,ENST00000584460,;GPS1,downstream_gene_variant,,ENST00000580141,;GPS1,downstream_gene_variant,,ENST00000578279,;GPS1,downstream_gene_variant,,ENST00000583486,;DUS1L,upstream_gene_variant,,ENST00000578428,;DUS1L,upstream_gene_variant,,ENST00000584871,;DUS1L,upstream_gene_variant,,ENST00000579854,;							LOW	951/1422		DUS1L_HUMAN			Transcript			.	ENSP00000303515		CCDS32775.1			1	
RBL2	0	LGGM	GRCh37	16	53496534	53496534	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	15	2	.	.	ENST00000262133.6:c.1527G>A	p.Gln509=	p.Q509=	ENST00000262133	NM_005611.3	509	caG/caA	0	1	1	UPI000013D264	0		ENST00000262133		ENSG00000103479	9894		17			HGNC	p.Q435Q		RBL2		SNV							ENST00000544405	protein_coding			Gene3D:1.10.472.10,Pfam_domain:PF01858,hmmpanther:PTHR13742,hmmpanther:PTHR13742:SF8,Superfamily_domains:SSF47954		Q		A		1664/4906				J3KSF7_HUMAN			YES	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,,ENST00000561512,;RBL2,upstream_gene_variant,,ENST00000562850,;RBL2,upstream_gene_variant,,ENST00000562837,;							LOW	1527/3420		RBL2_HUMAN			Transcript			.	ENSP00000262133		CCDS10748.1			1	
EVX2	0	LGGM	GRCh37	2	176947029	176947029	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	0	2	.	.	ENST00000308618.4:c.576T>C	p.Arg192=	p.R192=	ENST00000308618	NM_001080458.1	192	cgT/cgC	0	1	1	UPI000012A2AF	0		ENST00000308618		ENSG00000174279	3507		2			HGNC	p.R192R		EVX2		SNV							ENST00000308618	protein_coding			Superfamily_domains:SSF46689,SMART_domains:SM00389,Pfam_domain:PF00046,Gene3D:1.10.10.60,hmmpanther:PTHR24329:SF289,hmmpanther:PTHR24329,PROSITE_profiles:PS50071		R		G		713/4203							YES	EVX2,synonymous_variant,p.=,ENST00000308618,NM_001080458.1;							LOW	576/1431		EVX2_HUMAN			Transcript			.	ENSP00000312385		CCDS33333.1			1	
CDHR2	0	LGGM	GRCh37	5	176001104	176001104	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	5	2	.	.	ENST00000510636.1:c.426G>C	p.Val142=	p.V142=	ENST00000510636	NM_001171976.1	142	gtG/gtC	0	1		UPI0000DBEE8C	0		ENST00000261944		ENSG00000074276	18231		7			HGNC	p.V142V		CDHR2		SNV							ENST00000261944	protein_coding			Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF286,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		V		C		465/4068								CDHR2,synonymous_variant,p.=,ENST00000510636,NM_001171976.1;CDHR2,synonymous_variant,p.=,ENST00000261944,NM_017675.4;CDHR2,synonymous_variant,p.=,ENST00000506348,;							LOW	426/3933		CDHR2_HUMAN			Transcript			.	ENSP00000261944		CCDS34297.1			1	
KBTBD2	0	LGGM	GRCh37	7	32919069	32919069	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	33	3	.	.	ENST00000304056.4:c.148G>T	p.Ala50Ser	p.A50S	ENST00000304056	NM_015483.2	50	Gca/Tca	0	1	1	UPI0000036156	0	getma.org/pdb.php?prot=KBTB2_HUMAN&from=21&to=128&var=A50S	ENST00000304056		ENSG00000170852	21751		36	1.275		HGNC	p.A50S		KBTBD2		SNV							ENST00000304056	protein_coding	getma.org/?cm=var&var=hg19,7,32919069,C,A&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,PIRSF_domain:PIRSF037037,PROSITE_profiles:PS50097,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF124,SMART_domains:SM00225,Superfamily_domains:SSF54695		A/S		A	low	848/3745		getma.org/?cm=msa&ty=f&p=KBTB2_HUMAN&rb=21&re=128&var=A50S	tolerated(0.13)	C9JZ29_HUMAN,C9JI11_HUMAN			YES	KBTBD2,missense_variant,p.Ala50Ser,ENST00000304056,NM_015483.2;AVL9,intron_variant,,ENST00000404479,;KBTBD2,downstream_gene_variant,,ENST00000453627,;KBTBD2,downstream_gene_variant,,ENST00000424468,;KBTBD2,downstream_gene_variant,,ENST00000423022,;KBTBD2,downstream_gene_variant,,ENST00000452926,;KBTBD2,intron_variant,,ENST00000485611,;KBTBD2,non_coding_transcript_exon_variant,,ENST00000477129,;							MODERATE	148/1872	A50S	KBTB2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000302586		CCDS34614.1			1	
CACNA1A	0	LGGM	GRCh37	19	13342615	13342615	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	30	3	.	.	ENST00000360228.5:c.5309G>T	p.Cys1770Phe	p.C1770F	ENST00000360228	NM_001127222.1	1770	tGt/tTt	0	1	1	UPI0000141565	0	getma.org/pdb.php?prot=CAC1A_HUMAN&from=1600&to=1810&var=C1771F	ENST00000360228		ENSG00000141837	1388		33	3.835		HGNC	p.C1771F		CACNA1A		SNV			1				ENST00000325084	protein_coding	getma.org/?cm=var&var=hg19,19,13342615,C,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF59,Superfamily_domains:SSF81324		C/F		A	high	5309/8392		getma.org/?cm=msa&ty=f&p=CAC1A_HUMAN&rb=1600&re=1810&var=C1771F		Q9UN69_HUMAN,Q9UHM9_HUMAN			YES	CACNA1A,missense_variant,p.Cys1770Phe,ENST00000360228,NM_001127222.1,NM_001174080.1,NM_023035.2,NM_000068.3;CACNA1A,missense_variant,p.Cys1771Phe,ENST00000573710,NM_001127221.1;CACNA1A,missense_variant,p.Cys257Phe,ENST00000587525,;CACNA1A,missense_variant,p.Cys456Phe,ENST00000585802,;CACNA1A,non_coding_transcript_exon_variant,,ENST00000574822,;CACNA1A,3_prime_UTR_variant,,ENST00000573891,;CACNA1A,downstream_gene_variant,,ENST00000593267,;							MODERATE	5309/7521	C1771F	CAC1A_HUMAN			Transcript		possibly_damaging(0.506)	.	ENSP00000353362		CCDS45998.1			1	
GDA	0	LGGM	GRCh37	9	74810503	74810503	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	23	3	.	.	ENST00000238018.4:c.211C>A	p.His71Asn	p.H71N	ENST00000238018		71	Cat/Aat	0	1		UPI000012BD83	0	getma.org/pdb.php?prot=GUAD_HUMAN&from=1&to=72&var=H71N	ENST00000358399		ENSG00000119125	4212		26	0.345		HGNC	p.H71N		GDA		SNV							ENST00000238018	protein_coding	getma.org/?cm=var&var=hg19,9,74810503,C,A&fts=all		TIGRFAM_domain:TIGR02967,hmmpanther:PTHR11271:SF6,hmmpanther:PTHR11271		H/N		A	neutral	304/5340		getma.org/?cm=msa&ty=f&p=GUAD_HUMAN&rb=1&re=72&var=H71N	tolerated(0.47)	B4DIP8_HUMAN,B3KUM3_HUMAN				GDA,missense_variant,p.His71Asn,ENST00000358399,NM_001242506.2,NM_001242505.2,NM_004293.4;GDA,missense_variant,p.His29Asn,ENST00000376986,;GDA,missense_variant,p.His71Asn,ENST00000238018,;GDA,missense_variant,p.His46Asn,ENST00000376989,;GDA,splice_region_variant,,ENST00000545168,NM_001242507.2;GDA,splice_region_variant,,ENST00000477618,;GDA,missense_variant,p.His71Asn,ENST00000475764,;							MODERATE	211/1365	H71N	GUAD_HUMAN			Transcript		benign(0.006)	.	ENSP00000351170		CCDS6641.1			1	
ARHGEF3	0	LGGM	GRCh37	3	56771270	56771270	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	44	3	.	.	ENST00000338458.4:c.1080G>T	p.Leu360=	p.L360=	ENST00000338458	NM_001128615.1	360	ctG/ctT	0	1		UPI0000031493	0		ENST00000296315		ENSG00000163947	683		47			HGNC	p.L334L		ARHGEF3		SNV							ENST00000496106	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR22825:SF12,hmmpanther:PTHR22825,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		L		A		1153/3602								ARHGEF3,synonymous_variant,p.=,ENST00000413728,NM_001128616.1;ARHGEF3,synonymous_variant,p.=,ENST00000338458,NM_001128615.1;ARHGEF3,synonymous_variant,p.=,ENST00000296315,NM_019555.2;ARHGEF3,synonymous_variant,p.=,ENST00000497267,;ARHGEF3,synonymous_variant,p.=,ENST00000495373,;ARHGEF3,synonymous_variant,p.=,ENST00000496106,;ARHGEF3,3_prime_UTR_variant,,ENST00000465659,;							LOW	984/1581		ARHG3_HUMAN			Transcript			.	ENSP00000296315		CCDS2878.1			1	
ZSWIM8	0	LGGM	GRCh37	10	75550869	75550869	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	29	3	.	.	ENST00000398706.2:c.1078C>T	p.Arg360Trp	p.R360W	ENST00000398706	NM_015037.3	360	Cgg/Tgg	0	1		UPI0001593B39	0	NA	ENST00000605216		ENSG00000214655	23528		32	2.515		HGNC	p.R360W		ZSWIM8		SNV							ENST00000398706	protein_coding	getma.org/?cm=var&var=hg19,10,75550869,C,T&fts=all		hmmpanther:PTHR22619		R/W		T	medium	1295/6004		getma.org/?cm=msa&ty=f&p=K0913_HUMAN&rb=201&re=400&var=R360W	deleterious(0)					ZSWIM8,missense_variant,p.Arg360Trp,ENST00000604729,;ZSWIM8,missense_variant,p.Arg360Trp,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Arg360Trp,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Arg360Trp,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Arg360Trp,ENST00000604524,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,missense_variant,p.Arg360Trp,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000492395,;ZSWIM8,downstream_gene_variant,,ENST00000446546,;							MODERATE	1078/5514	R360W	ZSWM8_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000474748		CCDS60560.1			1	
PHLDB1	0	LGGM	GRCh37	11	118486880	118486880	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	46	3	.	.	ENST00000361417.2:c.309C>A	p.Cys103Ter	p.C103*	ENST00000361417	NM_015157.3	103	tgC/tgA	0	1	1	UPI0000192101	0	NA	ENST00000361417		ENSG00000019144	23697		49	0		HGNC	p.C103X		PHLDB1		SNV							ENST00000528594	protein_coding	getma.org/?cm=var&var=hg19,11,118486880,C,A&fts=all		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF16,Gene3D:2.60.200.20,Superfamily_domains:SSF49879		C/*		A	NA	720/5753		NA					YES	PHLDB1,stop_gained,p.Cys103Ter,ENST00000361417,NM_015157.3;PHLDB1,stop_gained,p.Cys103Ter,ENST00000356063,NM_001144759.2,NM_001144758.2;PHLDB1,non_coding_transcript_exon_variant,,ENST00000530708,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532639,;PHLDB1,non_coding_transcript_exon_variant,,ENST00000527259,;PHLDB1,stop_gained,p.Cys103Ter,ENST00000530994,;PHLDB1,stop_gained,p.Cys103Ter,ENST00000528594,;PHLDB1,downstream_gene_variant,,ENST00000525427,;							HIGH	309/4134	C103*	PHLB1_HUMAN			Transcript			.	ENSP00000354498		CCDS8401.1			1	
DAPK1	0	LGGM	GRCh37	9	90264848	90264848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	28	3	.	.	ENST00000408954.3:c.1441C>A	p.Pro481Thr	p.P481T	ENST00000408954	NM_004938.2	481	Ccc/Acc	0	1		UPI0000210C2F	0	getma.org/pdb.php?prot=DAPK1_HUMAN&from=477&to=509&var=P481T	ENST00000358077		ENSG00000196730	2674		31	3.015		HGNC	p.P481T		DAPK1		SNV							ENST00000472284	protein_coding	getma.org/?cm=var&var=hg19,9,90264848,C,A&fts=all		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		P/T		A	medium	1624/5743		getma.org/?cm=msa&ty=f&p=DAPK1_HUMAN&rb=477&re=509&var=P481T	tolerated(0.11)					DAPK1,missense_variant,p.Pro481Thr,ENST00000469640,;DAPK1,missense_variant,p.Pro481Thr,ENST00000408954,NM_004938.2;DAPK1,missense_variant,p.Pro481Thr,ENST00000472284,NM_001288729.1,NM_001288730.1;DAPK1,missense_variant,p.Pro481Thr,ENST00000358077,NM_001288731.1;DAPK1,missense_variant,p.Pro481Thr,ENST00000491893,;DAPK1,non_coding_transcript_exon_variant,,ENST00000495281,;DAPK1,upstream_gene_variant,,ENST00000494010,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;DAPK1,non_coding_transcript_exon_variant,,ENST00000469067,;DAPK1,non_coding_transcript_exon_variant,,ENST00000475804,;							MODERATE	1441/4293	P481T	DAPK1_HUMAN			Transcript		benign(0.359)	.	ENSP00000350785		CCDS43842.1			1	
UMODL1	0	LGGM	GRCh37	21	43542962	43542962	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	21	3	.	.	ENST00000408989.2:c.3233C>A	p.Thr1078Asn	p.T1078N	ENST00000408989	NM_173568.3	1078	aCc/aAc	0	1		UPI00006C2192	0	NA	ENST00000408910		ENSG00000177398	12560		24	0.805		HGNC	p.T1078N		UMODL1		SNV							ENST00000408989	protein_coding	getma.org/?cm=var&var=hg19,21,43542962,C,A&fts=all		hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135		T/N		A	low	2849/4878		getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=942&re=991&var=T950N	tolerated(0.19)	Q6L9N9_HUMAN				UMODL1,missense_variant,p.Thr878Asn,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Thr1006Asn,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Thr1078Asn,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Thr950Asn,ENST00000408910,NM_001004416.2;UMODL1,non_coding_transcript_exon_variant,,ENST00000400423,;UMODL1,intron_variant,,ENST00000484174,;UMODL1,upstream_gene_variant,,ENST00000484712,;							MODERATE	2849/3957	T950N	UROL1_HUMAN			Transcript		benign(0.157)	.	ENSP00000386147		CCDS42936.1			1	
CXorf21	0	LGGM	GRCh37	X	30577583	30577583	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	23	3	.	.	ENST00000378962.3:c.890G>T	p.Ser297Ile	p.S297I	ENST00000378962	NM_025159.2	297	aGc/aTc	0	1	1	UPI000006D5C7	0	NA	ENST00000378962		ENSG00000120280	25667		26	1.87		HGNC	p.S297I	COSM260339	CXorf21		SNV						1	ENST00000378962	protein_coding	getma.org/?cm=var&var=hg19,X,30577583,C,A&fts=all		Pfam_domain:PF15133,hmmpanther:PTHR14889:SF1,hmmpanther:PTHR14889		S/I		A	low	1213/1855		getma.org/?cm=msa&ty=f&p=CX021_HUMAN&rb=1&re=300&var=S297I	deleterious(0)				YES	CXorf21,missense_variant,p.Ser297Ile,ENST00000378962,NM_025159.2;					1		MODERATE	890/906	S297I	CX021_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000368245		CCDS14224.1			1	
ABCC12	0	LGGM	GRCh37	16	48122612	48122612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	11	3	.	.	ENST00000311303.3:c.3319G>T	p.Val1107Leu	p.V1107L	ENST00000311303	NM_033226.2	1107	Gtg/Ttg	0	1	1	UPI0000456987	0	NA	ENST00000311303		ENSG00000140798	14640		14	-0.075		HGNC	p.V1107L		ABCC12		SNV							ENST00000311303	protein_coding	getma.org/?cm=var&var=hg19,16,48122612,C,A&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10		V/L		A	neutral	3665/5168		getma.org/?cm=msa&ty=f&p=MRP9_HUMAN&rb=1072&re=1160&var=V1107L	tolerated(0.3)	E9PHY2_HUMAN			YES	ABCC12,missense_variant,p.Val1107Leu,ENST00000311303,NM_033226.2;ABCC12,3_prime_UTR_variant,,ENST00000416054,;ABCC12,3_prime_UTR_variant,,ENST00000448542,;ABCC12,upstream_gene_variant,,ENST00000532355,;ABCC12,3_prime_UTR_variant,,ENST00000529084,;ABCC12,3_prime_UTR_variant,,ENST00000534418,;ABCC12,3_prime_UTR_variant,,ENST00000497206,;ABCC12,3_prime_UTR_variant,,ENST00000532494,;ABCC12,3_prime_UTR_variant,,ENST00000529504,;ABCC12,non_coding_transcript_exon_variant,,ENST00000526251,;							MODERATE	3319/4080	V1107L	MRP9_HUMAN			Transcript		benign(0.001)	.	ENSP00000311030		CCDS10730.1			1	
TMPRSS4	0	LGGM	GRCh37	11	117973949	117973949	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	32	3	.	.	ENST00000437212.3:c.291C>A	p.Pro97=	p.P97=	ENST00000437212		97	ccC/ccA	0	1	1	UPI00001FA467	0		ENST00000437212		ENSG00000137648	11878		35			HGNC	p.P57P		TMPRSS4		SNV			1				ENST00000523251	protein_coding			PROSITE_profiles:PS50287		P		A		505/2074							YES	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.=,ENST00000517544,;TMPRSS4,5_prime_UTR_variant,,ENST00000522307,;TMPRSS4,intron_variant,,ENST00000522151,;TMPRSS4,synonymous_variant,p.=,ENST00000519236,;TMPRSS4,3_prime_UTR_variant,,ENST00000517483,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000519813,;TMPRSS4,non_coding_transcript_exon_variant,,ENST00000522462,;TMPRSS4,upstream_gene_variant,,ENST00000528118,;TMPRSS4,downstream_gene_variant,,ENST00000520063,;							LOW	291/1314		TMPS4_HUMAN			Transcript			.	ENSP00000416037		CCDS31684.1			1	
GRIN3B	0	LGGM	GRCh37	19	1004798	1004798	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	24	3	.	.	ENST00000234389.3:c.1298C>A	p.Pro433Gln	p.P433Q	ENST00000234389	NM_138690.1	433	cCa/cAa	0	1	1	UPI000004064B	0	getma.org/pdb.php?prot=NMD3B_HUMAN&from=401&to=474&var=P433Q	ENST00000234389		ENSG00000116032	16768		27	1.1		HGNC	p.P433Q		GRIN3B		SNV							ENST00000234389	protein_coding	getma.org/?cm=var&var=hg19,19,1004798,C,A&fts=all		Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF154,Superfamily_domains:SSF53850		P/Q		A	low	1317/3281		getma.org/?cm=msa&ty=f&p=NMD3B_HUMAN&rb=401&re=474&var=P433Q	deleterious(0.02)				YES	GRIN3B,missense_variant,p.Pro433Gln,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,splice_region_variant,,ENST00000588335,;TMEM259,downstream_gene_variant,,ENST00000592052,;TMEM259,downstream_gene_variant,,ENST00000592618,;							MODERATE	1298/3132	P433Q	NMD3B_HUMAN			Transcript		benign(0.223)	.	ENSP00000234389		CCDS32861.1			1	
FGD3	0	LGGM	GRCh37	9	95776267	95776267	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	45	3	.	.	ENST00000375482.3:c.1169G>T	p.Arg390Leu	p.R390L	ENST00000375482	NM_001083536.1	390	cGc/cTc	0	1		UPI0000199249	0	getma.org/pdb.php?prot=FGD3_HUMAN&from=371&to=469&var=R390L	ENST00000337352		ENSG00000127084	16027		48	3.215		HGNC	p.R390L		FGD3		SNV							ENST00000467786	protein_coding	getma.org/?cm=var&var=hg19,9,95776267,G,T&fts=all		Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF14,SMART_domains:SM00233,Superfamily_domains:SSF50729		R/L		T	medium	1651/3303		getma.org/?cm=msa&ty=f&p=FGD3_HUMAN&rb=371&re=469&var=R390L	deleterious(0.02)	B4DXH4_HUMAN				FGD3,missense_variant,p.Arg390Leu,ENST00000375482,NM_001083536.1;FGD3,missense_variant,p.Arg390Leu,ENST00000337352,NM_033086.2;FGD3,missense_variant,p.Arg390Leu,ENST00000416701,NM_001286993.1;FGD3,upstream_gene_variant,,ENST00000538555,;FGD3,upstream_gene_variant,,ENST00000494553,;FGD3,missense_variant,p.Arg390Leu,ENST00000467786,;							MODERATE	1169/2178	R390L	FGD3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336914		CCDS43849.1			1	
UNC50	0	LGGM	GRCh37	2	99234729	99234729	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	20	3	.	.	ENST00000357765.2:c.742C>A	p.His248Asn	p.H248N	ENST00000357765	NM_014044.5	248	Cat/Aat	0	1	1	UPI0000031564	0	NA	ENST00000357765		ENSG00000115446	16046		23	0.345		HGNC	p.H248N		UNC50		SNV							ENST00000357765	protein_coding	getma.org/?cm=var&var=hg19,2,99234729,C,A&fts=all		hmmpanther:PTHR12841,Pfam_domain:PF05216		H/N		A	neutral	894/1143		getma.org/?cm=msa&ty=f&p=UNC50_HUMAN&rb=28&re=256&var=H248N	tolerated(0.32)				YES	UNC50,missense_variant,p.His265Asn,ENST00000409975,;UNC50,missense_variant,p.His265Asn,ENST00000409347,;UNC50,missense_variant,p.His248Asn,ENST00000357765,NM_014044.5;UNC50,missense_variant,p.Pro122Gln,ENST00000393493,;UNC50,missense_variant,p.His81Asn,ENST00000423713,;MGAT4A,downstream_gene_variant,,ENST00000264968,;MGAT4A,downstream_gene_variant,,ENST00000393487,NM_012214.2;MGAT4A,downstream_gene_variant,,ENST00000414521,NM_001160154.1;UNC50,non_coding_transcript_exon_variant,,ENST00000466492,;							MODERATE	742/780	H248N	UNC50_HUMAN			Transcript		benign(0.016)	.	ENSP00000350409		CCDS2035.1			1	
ZNF345	0	LGGM	GRCh37	19	37368473	37368473	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	41	3	.	.	ENST00000529555.1:c.741G>A	p.Arg247=	p.R247=	ENST00000529555		247	cgG/cgA	0	1		UPI000013C364	0		ENST00000420450		ENSG00000251247	16367		44			HGNC	p.R247R		ZNF345		SNV							ENST00000529555	protein_coding			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		R		A		941/1971				K7EM63_HUMAN,K7EKZ8_HUMAN,F8W8R5_HUMAN,E9PLT7_HUMAN,B7Z4L5_HUMAN				ZNF345,synonymous_variant,p.=,ENST00000529555,;ZNF345,synonymous_variant,p.=,ENST00000589046,NM_003419.4,NM_001242476.1,NM_001242475.1;ZNF345,synonymous_variant,p.=,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,;							LOW	741/1467		ZN345_HUMAN			Transcript			.	ENSP00000431216		CCDS12497.1			1	
BICD1	0	LGGM	GRCh37	12	32446991	32446991	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	33	3	.	.	ENST00000281474.5:c.490C>A	p.Arg164=	p.R164=	ENST00000281474	NM_001714.2	164	Cgg/Agg	0	1	1	UPI00001AEA67	0		ENST00000281474		ENSG00000151746	1049		36			HGNC	p.R164R		BICD1		SNV							ENST00000395758	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09730,hmmpanther:PTHR31233:SF3,hmmpanther:PTHR31233		R		A		593/3281							YES	BICD1,synonymous_variant,p.=,ENST00000548411,NM_001003398.1;BICD1,synonymous_variant,p.=,ENST00000281474,NM_001714.2;BICD1,synonymous_variant,p.=,ENST00000395758,;							LOW	490/2928		BICD1_HUMAN			Transcript			.	ENSP00000281474		CCDS8726.1			1	
CACNG7	0	LGGM	GRCh37	19	54444843	54444843	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	42	3	.	.	ENST00000391767.1:c.544G>A	p.Ala182Thr	p.A182T	ENST00000391767		182	Gcc/Acc	0	1		UPI00000010F1	0	NA	ENST00000222212		ENSG00000105605	13626		45	2.175		HGNC	p.A182T		CACNG7		SNV							ENST00000222212	protein_coding	getma.org/?cm=var&var=hg19,19,54444843,G,A&fts=all		Pfam_domain:PF00822,Prints_domain:PR01792,hmmpanther:PTHR12107,hmmpanther:PTHR12107:SF3,Transmembrane_helices:TMhelix		A/T		A	medium	639/1016		getma.org/?cm=msa&ty=f&p=CCG7_HUMAN&rb=16&re=198&var=A182T	deleterious(0)					CACNG7,missense_variant,p.Ala182Thr,ENST00000391767,;CACNG7,missense_variant,p.Ala182Thr,ENST00000222212,NM_031896.4;CACNG7,missense_variant,p.Ala182Thr,ENST00000391766,;CACNG7,non_coding_transcript_exon_variant,,ENST00000468076,;							MODERATE	544/828	A182T	CCG7_HUMAN			Transcript		possibly_damaging(0.74)	.	ENSP00000222212		CCDS12868.1			1	
BCL11A	0	LGGM	GRCh37	2	60689327	60689327	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	16	3	.	.	ENST00000335712.6:c.720G>T	p.Leu240=	p.L240=	ENST00000335712	NM_022893.3	240	ctG/ctT	0	1	1	UPI000013DC00	0		ENST00000335712		ENSG00000119866	13221		19			HGNC	p.L206L		BCL11A		SNV			1				ENST00000538214	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43		L		A		948/5942				D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN			YES	BCL11A,synonymous_variant,p.=,ENST00000335712,NM_022893.3;BCL11A,synonymous_variant,p.=,ENST00000356842,NM_018014.3;BCL11A,synonymous_variant,p.=,ENST00000358510,;BCL11A,synonymous_variant,p.=,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,;							LOW	720/2508		BC11A_HUMAN			Transcript			.	ENSP00000338774		CCDS1862.1			1	
NOLC1	0	LGGM	GRCh37	10	103912215	103912215	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	18	3	.	.	ENST00000605788.1:c.48C>A	p.Pro16=	p.P16=	ENST00000605788	NM_004741.3	16	ccC/ccA	0	1	1	UPI000013E575	0		ENST00000605788		ENSG00000166197	15608		21			HGNC	p.P16P		NOLC1		SNV							ENST00000405356	protein_coding			PROSITE_profiles:PS50896,hmmpanther:PTHR23216		P		A		283/3932				Q96J17_HUMAN			YES	NOLC1,missense_variant,p.Pro16His,ENST00000476468,;NOLC1,synonymous_variant,p.=,ENST00000405356,NM_001284388.1;NOLC1,synonymous_variant,p.=,ENST00000605788,NM_004741.3;NOLC1,synonymous_variant,p.=,ENST00000370007,;NOLC1,synonymous_variant,p.=,ENST00000488254,NM_001284389.1;NOLC1,synonymous_variant,p.=,ENST00000461421,;NOLC1,5_prime_UTR_variant,,ENST00000603742,;PPRC1,downstream_gene_variant,,ENST00000278070,NM_015062.3,NM_001288728.1;PPRC1,downstream_gene_variant,,ENST00000413464,NM_001288727.1;PPRC1,downstream_gene_variant,,ENST00000370012,;PPRC1,downstream_gene_variant,,ENST00000489648,;PPRC1,downstream_gene_variant,,ENST00000495914,;NOLC1,synonymous_variant,p.=,ENST00000603946,;NOLC1,synonymous_variant,p.=,ENST00000464969,;							LOW	48/2100		NOLC1_HUMAN			Transcript			.	ENSP00000474710		CCDS7530.1			1	
KPNA5	0	LGGM	GRCh37	6	117053349	117053349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	21	3	.	.	ENST00000368564.1:c.1483C>A	p.Gln495Lys	p.Q495K	ENST00000368564		495	Cag/Aag	0	1		UPI000000DBE6	0	getma.org/pdb.php?prot=IMA5_HUMAN&from=451&to=536&var=Q492K	ENST00000356348		ENSG00000196911	6398		24	1.03		HGNC	p.Q495K		KPNA5		SNV							ENST00000368564	protein_coding	getma.org/?cm=var&var=hg19,6,117053349,C,A&fts=all		hmmpanther:PTHR23316:SF10,hmmpanther:PTHR23316,Gene3D:1.25.10.10,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371		Q/K		A	low	1614/2157		getma.org/?cm=msa&ty=f&p=IMA5_HUMAN&rb=451&re=536&var=Q492K	tolerated(0.68)	Q5TD90_HUMAN				KPNA5,missense_variant,p.Gln495Lys,ENST00000368564,;KPNA5,missense_variant,p.Gln495Lys,ENST00000356348,NM_002269.2;KPNA5,missense_variant,p.Gln78Lys,ENST00000392517,;							MODERATE	1483/1620	Q492K	IMA6_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000348704		CCDS5111.1			1	
CTSO	0	LGGM	GRCh37	4	156860618	156860618	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	47	3	.	.	ENST00000433477.3:c.457G>T	p.Glu153Ter	p.E153*	ENST00000433477	NM_001334.2	153	Gaa/Taa	0	1	1	UPI000006232B	0	NA	ENST00000433477		ENSG00000256043	2542		50	0		HGNC	p.E153X	rs368304065	CTSO		SNV	A:0.0002			9.61E-05			ENST00000433477	protein_coding	getma.org/?cm=var&var=hg19,4,156860618,C,A&fts=all		Superfamily_domains:SSF54001,SMART_domains:SM00645,Gene3D:3.90.70.10,Pfam_domain:PF00112,hmmpanther:PTHR12411:SF287,hmmpanther:PTHR12411		E/*	A:0	A	NA	527/2954		NA					YES	CTSO,stop_gained,p.Glu153Ter,ENST00000433477,NM_001334.2;							HIGH	457/966	E153*	CATO_HUMAN			Transcript			.	ENSP00000414904	8.24E-06	CCDS3794.1			1	
FBXL18	0	LGGM	GRCh37	7	5541582	5541582	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	5	3	.	.	ENST00000382368.3:c.318G>A	p.Trp106Ter	p.W106*	ENST00000382368	NM_024963.4	106	tgG/tgA	0	1	1	UPI000020EA59	0	NA	ENST00000382368		ENSG00000155034	21874		8	0		HGNC	p.W106X		FBXL18		SNV							ENST00000453700	protein_coding	getma.org/?cm=var&var=hg19,7,5541582,C,T&fts=all		hmmpanther:PTHR23125:SF280,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		W/*		T	NA	442/3498		NA					YES	FBXL18,stop_gained,p.Trp106Ter,ENST00000382368,NM_024963.4;FBXL18,stop_gained,p.Trp106Ter,ENST00000453700,;FBXL18,upstream_gene_variant,,ENST00000458142,;FBXL18,stop_gained,p.Trp106Ter,ENST00000415009,;							HIGH	318/2157	W106*	FXL18_HUMAN			Transcript			.	ENSP00000371805		CCDS43546.1			1	
RIMBP2	0	LGGM	GRCh37	12	130923010	130923010	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	5	3	.	.	ENST00000261655.4:c.1505C>A	p.Ala502Asp	p.A502D	ENST00000261655	NM_015347.4	502	gCc/gAc	0	1	1	UPI00001C1F42	0	getma.org/pdb.php?prot=RIMB2_HUMAN&from=487&to=573&var=A502D	ENST00000261655		ENSG00000060709	30339		8	1.79		HGNC	p.A502D		RIMBP2		SNV							ENST00000261655	protein_coding	getma.org/?cm=var&var=hg19,12,130923010,G,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR14234,hmmpanther:PTHR14234:SF18,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/D		T	low	1669/6321		getma.org/?cm=msa&ty=f&p=RIMB2_HUMAN&rb=487&re=573&var=A502D	deleterious(0.01)	F5H3X3_HUMAN			YES	RIMBP2,missense_variant,p.Ala502Asp,ENST00000261655,NM_015347.4;RIMBP2,missense_variant,p.Ala410Asp,ENST00000536002,;RIMBP2,missense_variant,p.Ala410Asp,ENST00000535703,;							MODERATE	1505/3159	A502D	RIMB2_HUMAN			Transcript		benign(0.245)	.	ENSP00000261655		CCDS31925.1			1	
ZSWIM8	0	LGGM	GRCh37	10	75550879	75550879	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	30	3	.	.	ENST00000398706.2:c.1088G>A	p.Ser363Asn	p.S363N	ENST00000398706	NM_015037.3	363	aGc/aAc	0	1		UPI0001593B39	0	NA	ENST00000605216		ENSG00000214655	23528		33	1.415		HGNC	p.S363N	rs755078387	ZSWIM8		SNV				0.000103			ENST00000398706	protein_coding	getma.org/?cm=var&var=hg19,10,75550879,G,A&fts=all		hmmpanther:PTHR22619		S/N		A	low	1305/6004		getma.org/?cm=msa&ty=f&p=K0913_HUMAN&rb=201&re=400&var=S363N	tolerated(0.07)					ZSWIM8,missense_variant,p.Ser363Asn,ENST00000604729,;ZSWIM8,missense_variant,p.Ser363Asn,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Ser363Asn,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Ser363Asn,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Ser363Asn,ENST00000604524,;ZSWIM8,upstream_gene_variant,,ENST00000603187,;ZSWIM8,upstream_gene_variant,,ENST00000412198,;ZSWIM8,upstream_gene_variant,,ENST00000604754,;ZSWIM8,upstream_gene_variant,,ENST00000431225,;ZSWIM8,upstream_gene_variant,,ENST00000489234,;ZSWIM8,upstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000451629,;ZSWIM8,missense_variant,p.Ser363Asn,ENST00000433366,;ZSWIM8,upstream_gene_variant,,ENST00000492395,;ZSWIM8,downstream_gene_variant,,ENST00000446546,;							MODERATE	1088/5514	S363N	ZSWM8_HUMAN			Transcript		benign(0.163)	.	ENSP00000474748	8.26E-06	CCDS60560.1			1	
MOGAT3	0	LGGM	GRCh37	7	100839543	100839543	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	8	3	.	.	ENST00000223114.4:c.796A>G	p.Ile266Val	p.I266V	ENST00000223114	NM_178176.2	266	Atc/Gtc	0	1	1	UPI00000622D1	0	NA	ENST00000223114		ENSG00000106384	23249		11	0.465		HGNC	p.I266V		MOGAT3		SNV							ENST00000223114	protein_coding	getma.org/?cm=var&var=hg19,7,100839543,T,C&fts=all		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF13		I/V		C	neutral	963/2132		getma.org/?cm=msa&ty=f&p=MOGT3_HUMAN&rb=45&re=341&var=I266V	tolerated(0.2)				YES	MOGAT3,missense_variant,p.Ile266Val,ENST00000223114,NM_178176.2;MOGAT3,missense_variant,p.Ile266Val,ENST00000440203,;MOGAT3,intron_variant,,ENST00000379423,NM_001287147.1;							MODERATE	796/1026	I266V	MOGT3_HUMAN			Transcript		benign(0.078)	.	ENSP00000223114		CCDS5714.1			1	
AATK	0	LGGM	GRCh37	17	79098595	79098595	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	12	3	.	.	ENST00000326724.4:c.894G>A	p.Ala298=	p.A298=	ENST00000326724	NM_001080395.2	298	gcG/gcA	0	1	1	UPI000041EA63	0		ENST00000326724		ENSG00000181409	21		15			HGNC	p.A298A	rs542603745	AATK		SNV							ENST00000326724	protein_coding		T:0	PROSITE_profiles:PS50011,hmmpanther:PTHR24417:SF0,hmmpanther:PTHR24417,Gene3D:1.10.510.10,Pfam_domain:PF07714,Superfamily_domains:SSF56112		A		T		919/5257	3.22E-05			H7C175_HUMAN	T:0	T:0.001	YES	AATK,synonymous_variant,p.=,ENST00000326724,NM_001080395.2;AATK,synonymous_variant,p.=,ENST00000417379,NM_004920.2;AATK,downstream_gene_variant,,ENST00000575363,;MIR657,downstream_gene_variant,,ENST00000385003,;MIR338,upstream_gene_variant,,ENST00000390137,;AATK,non_coding_transcript_exon_variant,,ENST00000573441,;AATK,downstream_gene_variant,,ENST00000572339,;AATK,synonymous_variant,p.=,ENST00000374792,;AATK,intron_variant,,ENST00000573469,;AATK,upstream_gene_variant,,ENST00000570932,;AATK,downstream_gene_variant,,ENST00000576053,;	0.000728	T:0.0002					LOW	894/4125		LMTK1_HUMAN		T:0	Transcript			common_variant	ENSP00000324196	6.61E-05	CCDS45807.1		T:0	1	
SYTL2	0	LGGM	GRCh37	11	85435640	85435640	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	45	3	.	.	ENST00000354566.3:c.1860G>T	p.Val620=	p.V620=	ENST00000354566	NM_206927.2	620	gtG/gtT	0	1		UPI0001AADE5A	0		ENST00000528231		ENSG00000137501	15585		48			HGNC	p.V620V		SYTL2		SNV							ENST00000389959	protein_coding							A		-/3536				Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,synonymous_variant,p.=,ENST00000359152,NM_206928.2;SYTL2,synonymous_variant,p.=,ENST00000525423,;SYTL2,synonymous_variant,p.=,ENST00000354566,NM_206927.2;SYTL2,synonymous_variant,p.=,ENST00000530351,;SYTL2,intron_variant,,ENST00000316356,;SYTL2,intron_variant,,ENST00000389960,NM_032943.3;SYTL2,intron_variant,,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,intron_variant,,ENST00000527523,;SYTL2,intron_variant,,ENST00000524452,;SYTL2,synonymous_variant,p.=,ENST00000389959,;							MODIFIER	-/2805		SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
ZNF804A	0	LGGM	GRCh37	2	185463719	185463719	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	36	3	.	.	ENST00000302277.6:c.33G>T	p.Thr11=	p.T11=	ENST00000302277	NM_194250.1	11	acG/acT	0	1	1	UPI00001B4B18	0		ENST00000302277		ENSG00000170396	21711		39			HGNC	p.T11T	rs760118305	ZNF804A	6.06E-05	SNV							ENST00000302277	protein_coding			hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614		T		T		627/4690	1.51E-05						YES	ZNF804A,synonymous_variant,p.=,ENST00000302277,NM_194250.1;							LOW	33/3630		Z804A_HUMAN			Transcript			.	ENSP00000303252	1.65E-05	CCDS2291.1			1	
MYH3	0	LGGM	GRCh37	17	10532915	10532915	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	16	3	.	.	ENST00000583535.1:c.5795G>T	p.Arg1932Met	p.R1932M	ENST00000583535	NM_002470.3	1932	aGg/aTg	0	1	1	UPI000013C892	0	NA	ENST00000583535		ENSG00000109063	7573		19	0.55		HGNC	p.R1932M		MYH3		SNV			1				ENST00000583535	protein_coding	getma.org/?cm=var&var=hg19,17,10532915,C,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297		R/M		A	neutral	5883/6037		getma.org/?cm=msa&ty=f&p=MYH3_HUMAN&rb=1898&re=1940&var=R1932M	deleterious_low_confidence(0.01)				YES	MYH3,missense_variant,p.Arg1932Met,ENST00000583535,NM_002470.3;MYH3,missense_variant,p.Arg1932Met,ENST00000226209,;MYH3,splice_region_variant,,ENST00000577963,;MYH3,splice_region_variant,,ENST00000579928,;							MODERATE	5795/5823	R1932M	MYH3_HUMAN			Transcript		benign(0.043)	.	ENSP00000464317		CCDS11157.1			1	
HDHD1	0	LGGM	GRCh37	X	7023722	7023722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	34	3	.	.	ENST00000424830.2:c.288G>T	p.Glu96Asp	p.E96D	ENST00000424830	NM_001135565.1	96	gaG/gaT	0	1		UPI000013CD53	0	getma.org/pdb.php?prot=HDHD1_HUMAN&from=11&to=194&var=E73D	ENST00000381077		ENSG00000130021	16818		37	1.72		HGNC	p.E96D		HDHD1		SNV							ENST00000424830	protein_coding	getma.org/?cm=var&var=hg19,X,7023722,C,A&fts=all		hmmpanther:PTHR18901:SF10,hmmpanther:PTHR18901,TIGRFAM_domain:TIGR01509,Pfam_domain:PF13419,Superfamily_domains:SSF56784		E/D		A	low	296/2140		getma.org/?cm=msa&ty=f&p=HDHD1_HUMAN&rb=11&re=194&var=E73D	tolerated(0.09)					HDHD1,missense_variant,p.Glu73Asp,ENST00000381077,NM_012080.4,NM_001178136.1;HDHD1,missense_variant,p.Glu96Asp,ENST00000424830,NM_001135565.1;HDHD1,missense_variant,p.Glu73Asp,ENST00000540122,NM_001178135.1;HDHD1,missense_variant,p.Glu73Asp,ENST00000486446,;HDHD1,intron_variant,,ENST00000412827,;HDHD1,non_coding_transcript_exon_variant,,ENST00000498474,;							MODERATE	219/687	E73D	HDHD1_HUMAN			Transcript		benign(0.08)	.	ENSP00000370467		CCDS48075.1			1	
SIGLEC8	0	LGGM	GRCh37	19	51958938	51958938	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	47	4	.	.	ENST00000321424.3:c.785C>A	p.Ser262Tyr	p.S262Y	ENST00000321424	NM_014442.2	262	tCc/tAc	0	1	1	UPI000013598B	0	getma.org/pdb.php?prot=SIGL8_HUMAN&from=246&to=344&var=S262Y	ENST00000321424		ENSG00000105366	10877		51	2.3		HGNC	p.S75Y		SIGLEC8		SNV							ENST00000597352	protein_coding	getma.org/?cm=var&var=hg19,19,51958938,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF36		S/Y		T	medium	852/2949		getma.org/?cm=msa&ty=f&p=SIGL8_HUMAN&rb=246&re=344&var=S262Y	tolerated(0.54)				YES	SIGLEC8,missense_variant,p.Ser262Tyr,ENST00000321424,NM_014442.2;SIGLEC8,missense_variant,p.Ser153Tyr,ENST00000430817,;SIGLEC8,missense_variant,p.Ser169Tyr,ENST00000340550,;SIGLEC8,non_coding_transcript_exon_variant,,ENST00000597352,;							MODERATE	785/1500	S262Y	SIGL8_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000321077		CCDS33086.1			1	
USP36	0	LGGM	GRCh37	17	76800004	76800004	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	11	4	.	.	ENST00000542802.3:c.2273A>C	p.His758Pro	p.H758P	ENST00000542802		758	cAc/cCc	0	1	1	UPI00000398BB	0	NA	ENST00000542802		ENSG00000055483	20062		15	0.805		HGNC	p.H758P	rs769674374	USP36	6.98E-05	SNV				0.000383			ENST00000589225	protein_coding	getma.org/?cm=var&var=hg19,17,76800004,T,G&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF409		H/P		G	low	2717/6063	8.44E-05	getma.org/?cm=msa&ty=f&p=UBP36_HUMAN&rb=431&re=1119&var=H758P	tolerated(0.15)	K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN			YES	USP36,missense_variant,p.His758Pro,ENST00000542802,;USP36,missense_variant,p.His758Pro,ENST00000312010,NM_025090.3;USP36,missense_variant,p.His458Pro,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000592231,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,downstream_gene_variant,,ENST00000588467,;USP36,missense_variant,p.His758Pro,ENST00000589225,;USP36,missense_variant,p.His758Pro,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;	0.000123						MODERATE	2273/3372	H758P	UBP36_HUMAN			Transcript		benign(0.005)	.	ENSP00000441214	0.000136	CCDS32755.1			1	
GARS	0	LGGM	GRCh37	7	30640799	30640799	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	61	4	.	.	ENST00000389266.3:c.552C>A	p.Thr184=	p.T184=	ENST00000389266	NM_002047.2	184	acC/acA	0	1	1	UPI00005A885C	0		ENST00000389266		ENSG00000106105	4162		65			HGNC	p.T184T	rs767204701	GARS		SNV			1				ENST00000389266	protein_coding			Gene3D:3.30.930.10,Pfam_domain:PF00587,hmmpanther:PTHR10745,hmmpanther:PTHR10745:SF0,Superfamily_domains:SSF55681,TIGRFAM_domain:TIGR00389		T		A		793/2634				Q75MN1_HUMAN			YES	GARS,synonymous_variant,p.=,ENST00000389266,NM_002047.2;GARS,3_prime_UTR_variant,,ENST00000454308,;GARS,non_coding_transcript_exon_variant,,ENST00000478124,;	0.000116						LOW	552/2220		SYG_HUMAN			Transcript			.	ENSP00000373918	8.28E-06	CCDS43564.1			1	
SVEP1	0	LGGM	GRCh37	9	113149662	113149662	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	55	4	.	.	ENST00000401783.2:c.9963G>T	p.Val3321=	p.V3321=	ENST00000401783	NM_153366.3	3321	gtG/gtT	0	1		UPI0000458920	0		ENST00000374469		ENSG00000165124	15985		59			HGNC	p.V3321V		SVEP1		SNV							ENST00000401783	protein_coding			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535		V		A		10158/12194								SVEP1,synonymous_variant,p.=,ENST00000401783,NM_153366.3;SVEP1,synonymous_variant,p.=,ENST00000374469,;SVEP1,synonymous_variant,p.=,ENST00000297826,;							LOW	9894/10647					Transcript			.	ENSP00000363593					1	
CDKN2A	0	LGGM	GRCh37	9	21971116	21971116	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	0	4	.	.	ENST00000304494.5:c.242C>T	p.Pro81Leu	p.P81L	ENST00000304494	NM_000077.4	81	cCc/cTc	0	1		UPI0000047FDA	0	NA	ENST00000304494		ENSG00000147889	1787		4	0		HGNC	p.P30L	rs11552823,COSM13224,COSM3092300,COSM3092302,COSM3092301	CDKN2A		SNV			1			1,1,1,1,1	ENST00000479692	protein_coding	getma.org/?cm=var&var=hg19,9,21971116,G,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24144:SF30,hmmpanther:PTHR24144,Gene3D:1.25.40.20,Pfam_domain:PF12796,Superfamily_domains:SSF48403		P/L		A	NA	513/1218		NA	deleterious(0)	Q9UPB7_HUMAN,K7PML8_HUMAN				CDKN2A,missense_variant,p.Pro81Leu,ENST00000304494,NM_000077.4;CDKN2A,missense_variant,p.Pro30Leu,ENST00000494262,;CDKN2A,missense_variant,p.Pro30Leu,ENST00000498628,;CDKN2A,missense_variant,p.Pro81Leu,ENST00000498124,NM_001195132.1;CDKN2A,missense_variant,p.Pro81Leu,ENST00000446177,;CDKN2A,missense_variant,p.Pro30Leu,ENST00000578845,;CDKN2A,missense_variant,p.Pro81Leu,ENST00000579122,;CDKN2A,missense_variant,p.Pro30Leu,ENST00000497750,;CDKN2A,missense_variant,p.Pro30Leu,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,;					0,1,1,1,1		MODERATE	242/471	T95T	CD2A1_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000307101		CCDS6510.1			1	18573309
PLEC	0	LGGM	GRCh37	8	145024748	145024748	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	3	5	.	.	ENST00000322810.4:c.127G>A	p.Val43Ile	p.V43I	ENST00000322810	NM_201380.2	43	Gtc/Atc	0	1	1	UPI0000233FCD	0	getma.org/pdb.php?prot=PLEC_HUMAN&from=7&to=104&var=V43I	ENST00000322810		ENSG00000178209	9069		8	0.86		HGNC	p.V43I	rs782013609	PLEC		SNV			1	0.000149			ENST00000322810	protein_coding	getma.org/?cm=var&var=hg19,8,145024748,C,T&fts=all		Pfam_domain:PF03501		V/I		T	low	297/15249	6.26E-05	getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=7&re=104&var=V43I		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Val43Ile,ENST00000322810,NM_201380.2;PLEC,intron_variant,,ENST00000436759,NM_000445.3;PLEC,intron_variant,,ENST00000354958,NM_201379.1;PLEC,intron_variant,,ENST00000356346,NM_201378.2;PLEC,intron_variant,,ENST00000527096,;PLEC,intron_variant,,ENST00000528025,;PLEC,intron_variant,,ENST00000528131,;PLEC,upstream_gene_variant,,ENST00000527816,;PLEC,upstream_gene_variant,,ENST00000526416,;PLEC,intron_variant,,ENST00000532346,;							MODERATE	127/14055	V43I	PLEC_HUMAN			Transcript		unknown(0)	.	ENSP00000323856	3.33E-05	CCDS43772.1			1	
TDRD1	0	LGGM	GRCh37	10	115985953	115985953	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	16	5	.	.	ENST00000251864.2:c.3153A>T	p.Gln1051His	p.Q1051H	ENST00000251864	NM_198795.1	1051	caA/caT	0	1	1	UPI00001F9753	0	getma.org/pdb.php?prot=TDRD1_HUMAN&from=936&to=1059&var=Q1051H	ENST00000251864		ENSG00000095627	11712		21	2.98		HGNC	p.Q937H		TDRD1		SNV							ENST00000369281	protein_coding	getma.org/?cm=var&var=hg19,10,115985953,A,T&fts=all		Superfamily_domains:SSF63748,Pfam_domain:PF00567,hmmpanther:PTHR22948,hmmpanther:PTHR22948:SF4		Q/H		T	medium	3306/4510		getma.org/?cm=msa&ty=f&p=TDRD1_HUMAN&rb=936&re=1059&var=Q1051H	deleterious(0.01)				YES	TDRD1,missense_variant,p.Gln1051His,ENST00000251864,NM_198795.1;TDRD1,missense_variant,p.Gln937His,ENST00000369281,;TDRD1,missense_variant,p.Gln1051His,ENST00000369280,;TDRD1,missense_variant,p.Gln655His,ENST00000422662,;TDRD1,missense_variant,p.Gln1051His,ENST00000369282,;							MODERATE	3153/3570	Q1051H	TDRD1_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000251864		CCDS7588.1			1	
FBN3	0	LGGM	GRCh37	19	8196581	8196581	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	7	5	.	.	ENST00000600128.1:c.1847T>A	p.Val616Glu	p.V616E	ENST00000600128		616	gTg/gAg	0	1		UPI000013D88F	0	getma.org/pdb.php?prot=FBN3_HUMAN&from=612&to=626&var=V616E	ENST00000270509		ENSG00000142449	18794		12	-0.31		HGNC	p.V616E	COSM329366	FBN3		SNV						1	ENST00000600128	protein_coding	getma.org/?cm=var&var=hg19,19,8196581,A,T&fts=all		hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,Gene3D:3.90.290.10,PIRSF_domain:PIRSF036312,Superfamily_domains:SSF57184,Superfamily_domains:SSF57581		V/E		T	neutral	2133/9232		getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=582&re=656&var=V616E	deleterious(0.02)					FBN3,missense_variant,p.Val616Glu,ENST00000600128,;FBN3,missense_variant,p.Val616Glu,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Val616Glu,ENST00000601739,;					1		MODERATE	1847/8430	V616E	FBN3_HUMAN			Transcript		benign(0.266)	.	ENSP00000270509		CCDS12196.1			1	
TNFSF15	0	LGGM	GRCh37	9	117568129	117568129	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	15	6	.	.	ENST00000374045.4:c.164T>A	p.Leu55His	p.L55H	ENST00000374045	NM_005118.3	55	cTt/cAt	0	1	1	UPI000006F8DF	0	NA	ENST00000374045		ENSG00000181634	11931		21	0.975		HGNC	p.L55H		TNFSF15		SNV			1				ENST00000374045	protein_coding	getma.org/?cm=var&var=hg19,9,117568129,A,T&fts=all		hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF24,Transmembrane_helices:TMhelix		L/H		T	low	278/6687		getma.org/?cm=msa&ty=f&p=TNF15_HUMAN&rb=1&re=61&var=L55H	deleterious(0)	D9N2U0_HUMAN			YES	TNFSF15,missense_variant,p.Leu55His,ENST00000374045,NM_005118.3,NM_001204344.1;							MODERATE	164/756	L55H	TNF15_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000363157		CCDS6809.1			1	
AKT2	0	LGGM	GRCh37	19	40762840	40762840	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	26	7	.	.	ENST00000392038.2:c.168C>T	p.Ser56=	p.S56=	ENST00000392038	NM_001626.4	56	tcC/tcT	0	1	1	UPI0000049EDB	0		ENST00000392038		ENSG00000105221	392		33			HGNC	p.R11C	rs374666111	AKT2		SNV	A:0		1	0.000288			ENST00000491778	protein_coding		A:0.0015	PROSITE_profiles:PS50003,hmmpanther:PTHR24352,hmmpanther:PTHR24352:SF28,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		S	A:0.0001	A		467/5300	3.00E-05			Q05BV0_HUMAN,M0QZK3_HUMAN,J3QQM6_HUMAN,J3QLS6_HUMAN,J3QL45_HUMAN,J3KSY8_HUMAN,J3KRI8_HUMAN,E7EVP8_HUMAN,C9JIJ1_HUMAN,C9JIF6_HUMAN,C9JHS6_HUMAN,C9JC83_HUMAN,C9J258_HUMAN,B4DG79_HUMAN,B3KP61_HUMAN,A8MX96_HUMAN	A:0	A:0	YES	AKT2,synonymous_variant,p.=,ENST00000392038,NM_001626.4,NM_001243027.1,NM_001243028.1;AKT2,synonymous_variant,p.=,ENST00000424901,;AKT2,synonymous_variant,p.=,ENST00000311278,;AKT2,synonymous_variant,p.=,ENST00000416362,;AKT2,synonymous_variant,p.=,ENST00000441941,;AKT2,synonymous_variant,p.=,ENST00000416994,;AKT2,synonymous_variant,p.=,ENST00000423127,;AKT2,synonymous_variant,p.=,ENST00000392037,;AKT2,synonymous_variant,p.=,ENST00000486368,;AKT2,synonymous_variant,p.=,ENST00000596634,;AKT2,synonymous_variant,p.=,ENST00000456441,;AKT2,synonymous_variant,p.=,ENST00000452077,;AKT2,synonymous_variant,p.=,ENST00000583859,;AKT2,synonymous_variant,p.=,ENST00000578123,;AKT2,synonymous_variant,p.=,ENST00000427375,;AKT2,synonymous_variant,p.=,ENST00000358335,;AKT2,synonymous_variant,p.=,ENST00000580747,;AKT2,5_prime_UTR_variant,,ENST00000579047,;AKT2,synonymous_variant,p.=,ENST00000491778,;AKT2,5_prime_UTR_variant,,ENST00000391844,;AKT2,5_prime_UTR_variant,,ENST00000584288,;AKT2,5_prime_UTR_variant,,ENST00000492463,;AKT2,non_coding_transcript_exon_variant,,ENST00000537834,;AKT2,upstream_gene_variant,,ENST00000487537,;AKT2,upstream_gene_variant,,ENST00000601166,;		A:0.0004					LOW	168/1446		AKT2_HUMAN		A:0	Transcript			.	ENSP00000375892	4.12E-05	CCDS12552.1		A:0	1	
PROSER1	0	LGGM	GRCh37	13	39588504	39588504	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	3	7	.	.	ENST00000352251.3:c.885A>G	p.Pro295=	p.P295=	ENST00000352251	NM_025138.4	295	ccA/ccG	0	1	1	UPI00001FCC65	0		ENST00000352251		ENSG00000120685	20291		10			HGNC	p.P273P		PROSER1		SNV							ENST00000350125	protein_coding			hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2		P		C		1719/5168							YES	PROSER1,synonymous_variant,p.=,ENST00000352251,NM_025138.4;PROSER1,synonymous_variant,p.=,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,upstream_gene_variant,,ENST00000468017,;PROSER1,downstream_gene_variant,,ENST00000602899,;PROSER1,downstream_gene_variant,,ENST00000602512,;PROSER1,upstream_gene_variant,,ENST00000492646,;							LOW	885/2835		PRSR1_HUMAN			Transcript			.	ENSP00000332034		CCDS9368.2			1	
COL22A1	0	LGGM	GRCh37	8	139638475	139638475	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	34	7	.	.	ENST00000303045.6:c.3675C>A	p.Gly1225=	p.G1225=	ENST00000303045	NM_152888.1	1225	ggC/ggA	0	1	1	UPI00001C1EA1	0		ENST00000303045		ENSG00000169436	22989		41			HGNC	p.G1225G		COL22A1		SNV							ENST00000303045	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF379,hmmpanther:PTHR24023		G		T		4122/6346							YES	COL22A1,synonymous_variant,p.=,ENST00000303045,NM_152888.1;COL22A1,synonymous_variant,p.=,ENST00000435777,;COL22A1,non_coding_transcript_exon_variant,,ENST00000341807,;							LOW	3675/4881		COMA1_HUMAN			Transcript			.	ENSP00000303153		CCDS6376.1			1	
STOML3	0	LGGM	GRCh37	13	39541151	39541151	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	4	7	.	.	ENST00000379631.4:c.687A>T	p.Lys229Asn	p.K229N	ENST00000379631	NM_145286.2	229	aaA/aaT	0	1	1	UPI000003615B	0	NA	ENST00000379631		ENSG00000133115	19420		11	1.865		HGNC	p.K220N		STOML3		SNV							ENST00000423210	protein_coding	getma.org/?cm=var&var=hg19,13,39541151,T,A&fts=all		hmmpanther:PTHR10264:SF75,hmmpanther:PTHR10264,Prints_domain:PR00721		K/N		A	low	1032/2121		getma.org/?cm=msa&ty=f&p=STML3_HUMAN&rb=226&re=291&var=K229N	deleterious(0.01)				YES	STOML3,missense_variant,p.Lys229Asn,ENST00000379631,NM_145286.2;STOML3,missense_variant,p.Lys220Asn,ENST00000423210,NM_001144033.1;							MODERATE	687/876	K229N	STML3_HUMAN			Transcript		possibly_damaging(0.451)	.	ENSP00000368952		CCDS9367.1			1	
OR7C2	0	LGGM	GRCh37	19	15052625	15052625	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	44	8	.	.	ENST00000248072.3:c.325T>A	p.Cys109Ser	p.C109S	ENST00000248072	NM_012377.1	109	Tgc/Agc	0	1	1	UPI0000041E80	0	getma.org/pdb.php?prot=OR7C2_HUMAN&from=1&to=138&var=C109S	ENST00000248072		ENSG00000127529	8374		52	0.83		HGNC	p.C109S		OR7C2		SNV							ENST00000248072	protein_coding	getma.org/?cm=var&var=hg19,19,15052625,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF307,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		C/S		A	low	325/960		getma.org/?cm=msa&ty=f&p=OR7C2_HUMAN&rb=1&re=138&var=C109S	tolerated_low_confidence(0.42)				YES	OR7C2,missense_variant,p.Cys109Ser,ENST00000248072,NM_012377.1;							MODERATE	325/960	C109S	OR7C2_HUMAN			Transcript		benign(0.178)	.	ENSP00000248072		CCDS12320.1			1	
TRIM51	0	LGGM	GRCh37	11	55655661	55655661	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	273	8	.	.	ENST00000449290.2:c.661C>T	p.His221Tyr	p.H221Y	ENST00000449290	NM_032681.3	221	Cat/Tat	0	1	1	UPI0000DFFA1E	0	NA	ENST00000449290		ENSG00000124900	19023		281	2.93		HGNC	p.H221Y		TRIM51		SNV							ENST00000449290	protein_coding	getma.org/?cm=var&var=hg19,11,55655661,C,T&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302		H/Y		T	medium	753/1629		getma.org/?cm=msa&ty=f&p=SPRY5_HUMAN&rb=130&re=329&var=H221Y	tolerated(0.41)	I1YAQ1_HUMAN			YES	TRIM51,missense_variant,p.His221Tyr,ENST00000449290,NM_032681.3;TRIM51,missense_variant,p.His78Tyr,ENST00000244891,;							MODERATE	661/1359	H221Y	TRI51_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000395086					1	
CACNA1I	0	LGGM	GRCh37	22	40059730	40059730	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	14	8	.	.	ENST00000402142.3:c.3481G>A	p.Val1161Ile	p.V1161I	ENST00000402142	NM_021096.3	1161	Gtc/Atc	0	1	1	UPI000012727D	0	NA	ENST00000402142		ENSG00000100346	1396		22	0.55		HGNC	p.V1126I		CACNA1I		SNV							ENST00000407673	protein_coding	getma.org/?cm=var&var=hg19,22,40059730,G,A&fts=all		hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037		V/I		A	neutral	3481/10004		getma.org/?cm=msa&ty=f&p=CAC1I_HUMAN&rb=1062&re=1205&var=V1161I	tolerated(0.32)				YES	CACNA1I,missense_variant,p.Val1167Ile,ENST00000336649,;CACNA1I,missense_variant,p.Val1161Ile,ENST00000402142,NM_021096.3;CACNA1I,missense_variant,p.Val1126Ile,ENST00000400164,;CACNA1I,missense_variant,p.Val1126Ile,ENST00000404898,NM_001003406.1;CACNA1I,missense_variant,p.Val1161Ile,ENST00000401624,;CACNA1I,missense_variant,p.Val1126Ile,ENST00000407673,;							MODERATE	3481/6672	V1161I	CAC1I_HUMAN			Transcript		benign(0.097)	.	ENSP00000385019		CCDS46710.1			1	
MYO18B	0	LGGM	GRCh37	22	26247456	26247456	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	14	9	.	.	ENST00000335473.7:c.3795G>T	p.Gly1265=	p.G1265=	ENST00000335473	NM_032608.5	1265	ggG/ggT	0	1		UPI0000207402	0		ENST00000536101		ENSG00000133454	18150		23			HGNC	p.G1265G		MYO18B		SNV							ENST00000335473	protein_coding			PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		G		T		4054/8051				Q8N903_HUMAN				MYO18B,synonymous_variant,p.=,ENST00000335473,NM_032608.5;MYO18B,synonymous_variant,p.=,ENST00000407587,;MYO18B,synonymous_variant,p.=,ENST00000536101,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							LOW	3795/7704					Transcript			.	ENSP00000441229		CCDS54507.1			1	
AP3S2	0	LGGM	GRCh37	15	90431823	90431823	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	21	9	.	.	ENST00000336418.4:c.203A>G	p.Tyr68Cys	p.Y68C	ENST00000336418	NM_005829.4	68	tAt/tGt	0	1	1	UPI000002351D	0	getma.org/pdb.php?prot=AP3S2_HUMAN&from=1&to=148&var=Y68C	ENST00000336418		ENSG00000157823	571		30	3.98		HGNC	p.Y68C		AP3S2		SNV							ENST00000560251	protein_coding	getma.org/?cm=var&var=hg19,15,90431823,T,C&fts=all		hmmpanther:PTHR11753:SF10,hmmpanther:PTHR11753,PROSITE_patterns:PS00989,Gene3D:3.30.450.60,Pfam_domain:PF01217,PIRSF_domain:PIRSF015588,Superfamily_domains:SSF64356		Y/C		C	high	596/5891		getma.org/?cm=msa&ty=f&p=AP3S2_HUMAN&rb=1&re=148&var=Y68C	deleterious(0.01)				YES	AP3S2,missense_variant,p.Tyr68Cys,ENST00000336418,NM_005829.4;C15orf38-AP3S2,missense_variant,p.Tyr269Cys,ENST00000398333,NM_001199058.1;AP3S2,missense_variant,p.Tyr68Cys,ENST00000558011,;C15orf38-AP3S2,missense_variant,p.Tyr104Cys,ENST00000559629,;AP3S2,missense_variant,p.Tyr68Cys,ENST00000560940,;C15orf38-AP3S2,intron_variant,,ENST00000558648,;RNU6-1111P,upstream_gene_variant,,ENST00000391118,;MIR5009,upstream_gene_variant,,ENST00000578736,;C15orf38-AP3S2,non_coding_transcript_exon_variant,,ENST00000560224,;AP3S2,non_coding_transcript_exon_variant,,ENST00000560184,;AP3S2,missense_variant,p.Tyr68Cys,ENST00000423566,;AP3S2,missense_variant,p.Tyr68Cys,ENST00000558999,;AP3S2,missense_variant,p.Tyr68Cys,ENST00000560251,;AP3S2,3_prime_UTR_variant,,ENST00000557999,;AP3S2,3_prime_UTR_variant,,ENST00000558806,;AP3S2,non_coding_transcript_exon_variant,,ENST00000559601,;AP3S2,non_coding_transcript_exon_variant,,ENST00000559162,;							MODERATE	203/582	Y68C	AP3S2_HUMAN			Transcript		possibly_damaging(0.628)	.	ENSP00000338777		CCDS10357.1			1	
MUC16	0	LGGM	GRCh37	19	8966766	8966766	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	27	9	.	.	ENST00000397910.4:c.43187C>T	p.Ser14396Leu	p.S14396L	ENST00000397910	NM_024690.2	14396	tCg/tTg	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=14414&to=14524&var=D14494L	ENST00000397910		ENSG00000181143	15582		36	2.875		HGNC	p.S1037L	rs760092374,COSM180147	MUC16		SNV						0,1	ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8966766,G,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		S/L		A	medium	43391/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=14414&re=14524&var=D14494L		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser14396Leu,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Ser1219Leu,ENST00000599436,;MUC16,missense_variant,p.Ser1037Leu,ENST00000380951,;MUC16,missense_variant,p.Arg1219Cys,ENST00000601404,;MUC16,3_prime_UTR_variant,,ENST00000596768,;					0,1		MODERATE	43187/43524	D14494L				Transcript		probably_damaging(0.95)	.	ENSP00000381008	8.28E-06	CCDS54212.1	0.00217		1	
LTBP3	0	LGGM	GRCh37	11	65310926	65310926	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	14	9	.	.	ENST00000301873.5:c.2448del	p.Leu817CysfsTer51	p.L817Cfs*51	ENST00000301873	NM_001130144.2	816	caT/ca	0	1	1	UPI00003667EB	0		ENST00000301873		ENSG00000168056	6716		23			HGNC	p.H246fs		LTBP3		deletion			1				ENST00000532932	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF35,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		H/X		-		2717/4443				Q9P0Z7_HUMAN,E9PR84_HUMAN,E9PKW1_HUMAN			YES	LTBP3,frameshift_variant,p.Leu817CysfsTer51,ENST00000301873,NM_001130144.2;LTBP3,frameshift_variant,p.Leu817CysfsTer51,ENST00000322147,NM_001164266.1,NM_021070.4;LTBP3,frameshift_variant,p.Leu728CysfsTer51,ENST00000530866,;LTBP3,frameshift_variant,p.Leu247CysfsTer51,ENST00000532932,;LTBP3,frameshift_variant,p.Leu468CysfsTer51,ENST00000526927,;LTBP3,frameshift_variant,p.Leu443CysfsTer51,ENST00000536982,;LTBP3,5_prime_UTR_variant,,ENST00000530785,;LTBP3,5_prime_UTR_variant,,ENST00000529189,;SCYL1,downstream_gene_variant,,ENST00000524944,;SCYL1,downstream_gene_variant,,ENST00000270176,NM_020680.3;SCYL1,downstream_gene_variant,,ENST00000527009,;SCYL1,downstream_gene_variant,,ENST00000525364,;SCYL1,downstream_gene_variant,,ENST00000420247,NM_001048218.1;SCYL1,downstream_gene_variant,,ENST00000533862,;SCYL1,downstream_gene_variant,,ENST00000279270,;SCYL1,downstream_gene_variant,,ENST00000528545,;LTBP3,upstream_gene_variant,,ENST00000532661,;LTBP3,downstream_gene_variant,,ENST00000527339,;LTBP3,upstream_gene_variant,,ENST00000529371,;SCYL1,downstream_gene_variant,,ENST00000534462,;LTBP3,3_prime_UTR_variant,,ENST00000528516,;LTBP3,non_coding_transcript_exon_variant,,ENST00000525443,;LTBP3,upstream_gene_variant,,ENST00000529582,;SCYL1,downstream_gene_variant,,ENST00000532290,;LTBP3,downstream_gene_variant,,ENST00000528966,;LTBP3,upstream_gene_variant,,ENST00000530990,;LTBP3,downstream_gene_variant,,ENST00000529764,;LTBP3,upstream_gene_variant,,ENST00000526124,;							HIGH	2448/3912		LTBP3_HUMAN			Transcript			.	ENSP00000301873		CCDS44647.1			1	
BARD1	0	LGGM	GRCh37	2	215657164	215657164	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	6	10	.	.	ENST00000260947.4:c.221G>A	p.Cys74Tyr	p.C74Y	ENST00000260947	NM_000465.2	74	tGt/tAt	0	1	1	UPI000013D11D	0	getma.org/pdb.php?prot=BARD1_HUMAN&from=1&to=128&var=C74Y	ENST00000260947		ENSG00000138376	952		16	3.965		HGNC	p.C74Y		BARD1		SNV			1				ENST00000260947	protein_coding	getma.org/?cm=var&var=hg19,2,215657164,C,T&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171,PROSITE_patterns:PS00518,Gene3D:3.30.40.10,Pfam_domain:PF14835,Superfamily_domains:SSF57850		C/Y		T	high	356/5499		getma.org/?cm=msa&ty=f&p=BARD1_HUMAN&rb=1&re=128&var=C74Y	deleterious(0)				YES	BARD1,missense_variant,p.Cys74Tyr,ENST00000260947,NM_000465.2,NM_001282548.1,NM_001282545.1,NM_001282543.1;BARD1,intron_variant,,ENST00000449967,;BARD1,intron_variant,,ENST00000421162,;BARD1,intron_variant,,ENST00000471787,;BARD1,intron_variant,,ENST00000455743,;BARD1,downstream_gene_variant,,ENST00000479904,;							MODERATE	221/2334	C74Y	BARD1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000260947		CCDS2397.1			1	
DZIP1	0	LGGM	GRCh37	13	96238350	96238350	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	18	10	.	.	ENST00000347108.3:c.2259G>T	p.Met753Ile	p.M753I	ENST00000347108		753	atG/atT	0	1	1	UPI000000D9B8	0	NA	ENST00000347108		ENSG00000134874	20908		28	1.04		HGNC	p.M753I		DZIP1		SNV							ENST00000347108	protein_coding	getma.org/?cm=var&var=hg19,13,96238350,C,A&fts=all		hmmpanther:PTHR21502,hmmpanther:PTHR21502:SF5		M/I		A	low	2692/7068		getma.org/?cm=msa&ty=f&p=DZIP1_HUMAN&rb=579&re=778&var=M753I	tolerated(0.37)	B3KSP1_HUMAN			YES	DZIP1,missense_variant,p.Met753Ile,ENST00000347108,;DZIP1,missense_variant,p.Met734Ile,ENST00000361156,;DZIP1,missense_variant,p.Met734Ile,ENST00000361396,NM_014934.4;DZIP1,missense_variant,p.Met753Ile,ENST00000376829,NM_198968.3;DZIP1,non_coding_transcript_exon_variant,,ENST00000485031,;DZIP1,non_coding_transcript_exon_variant,,ENST00000479518,;							MODERATE	2259/2604	M753I	DZIP1_HUMAN			Transcript		benign(0.005)	.	ENSP00000257312		CCDS9478.1			1	
C17orf47	0	LGGM	GRCh37	17	56620556	56620556	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	12	10	.	.	ENST00000321691.3:c.992T>G	p.Val331Gly	p.V331G	ENST00000321691	NM_001038704.2	331	gTt/gGt	0	1	1	UPI0000140BFA	0	NA	ENST00000321691		ENSG00000181013	26844		22	0.805		HGNC	p.V331G		C17orf47		SNV							ENST00000321691	protein_coding	getma.org/?cm=var&var=hg19,17,56620556,A,C&fts=all		Pfam_domain:PF15548		V/G		C	low	1174/2123		getma.org/?cm=msa&ty=f&p=CQ047_HUMAN&rb=50&re=550&var=V331G	tolerated(0.44)				YES	C17orf47,missense_variant,p.Val331Gly,ENST00000321691,NM_001038704.2;SEPT4,upstream_gene_variant,,ENST00000457347,NM_001256782.1;SEPT4,upstream_gene_variant,,ENST00000412945,NM_001198713.1;RP11-112H10.4,intron_variant,,ENST00000580769,;RP11-112H10.4,intron_variant,,ENST00000578022,;RP11-112H10.4,intron_variant,,ENST00000580589,;SEPT4,upstream_gene_variant,,ENST00000581921,;							MODERATE	992/1713	V331G	CQ047_HUMAN			Transcript		benign(0.437)	.	ENSP00000354874		CCDS32691.1			1	
COL5A3	0	LGGM	GRCh37	19	10102508	10102525	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	CTGGAGGACCCTGGGGAG	CTGGAGGACCCTGGGGAG	-	novel	by Submitter	H104490	H104490N.bam	CTGGAGGACCCTGGGGAG	CTGGAGGACCCTGGGGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	32	11	.	.	ENST00000264828.3:c.1894-8_1903del		p.X632_splice	ENST00000264828	NM_015719.3			0	1	1	UPI00002032A3	0		ENST00000264828		ENSG00000080573	14864		43			HGNC	p.632_635del		COL5A3		deletion							ENST00000264828	protein_coding							-		?-1989/6174							YES	COL5A3,splice_acceptor_variant,,ENST00000264828,NM_015719.3;CTD-2553C6.1,upstream_gene_variant,,ENST00000592332,;							HIGH	?-1903/5238		CO5A3_HUMAN			Transcript			.	ENSP00000264828		CCDS12222.1			1	
ZC2HC1A	0	LGGM	GRCh37	8	79598801	79598801	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	32	12	.	.	ENST00000263849.4:c.310G>A	p.Gly104Ser	p.G104S	ENST00000263849	NM_016010.2	104	Ggt/Agt	0	1	1	UPI000013D475	0	NA	ENST00000263849		ENSG00000104427	24277		44	2.725		HGNC	p.G104S		ZC2HC1A		SNV							ENST00000263849	protein_coding	getma.org/?cm=var&var=hg19,8,79598801,G,A&fts=all		hmmpanther:PTHR13555,hmmpanther:PTHR13555:SF25		G/S		A	medium	412/3352		getma.org/?cm=msa&ty=f&p=ZC21A_HUMAN&rb=1&re=200&var=G104S	deleterious(0)				YES	ZC2HC1A,missense_variant,p.Gly104Ser,ENST00000263849,NM_016010.2;ZC2HC1A,non_coding_transcript_exon_variant,,ENST00000521176,;IL7,intron_variant,,ENST00000523959,;							MODERATE	310/978	G104S	ZC21A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263849		CCDS6223.1			1	
PITPNM1	0	LGGM	GRCh37	11	67262392	67262392	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	17	12	.	.	ENST00000356404.3:c.2667C>T	p.Cys889=	p.C889=	ENST00000356404	NM_001130848.1	889	tgC/tgT	0	1	1	UPI00001FAD31	0		ENST00000356404		ENSG00000110697	9003		29			HGNC	p.C889C		PITPNM1		SNV							ENST00000534749	protein_coding			hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF40		C		A		2893/4225				E9PSD1_HUMAN,E9PNU6_HUMAN,E9PMZ6_HUMAN,E9PMS0_HUMAN			YES	PITPNM1,synonymous_variant,p.=,ENST00000356404,NM_001130848.1,NM_004910.2;PITPNM1,synonymous_variant,p.=,ENST00000436757,;PITPNM1,synonymous_variant,p.=,ENST00000534749,;AIP,downstream_gene_variant,,ENST00000279146,NM_003977.2;AIP,downstream_gene_variant,,ENST00000528641,;AIP,downstream_gene_variant,,ENST00000525341,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000526450,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000525568,;PITPNM1,downstream_gene_variant,,ENST00000530381,;PITPNM1,downstream_gene_variant,,ENST00000526602,;PITPNM1,downstream_gene_variant,,ENST00000525521,;PITPNM1,non_coding_transcript_exon_variant,,ENST00000527370,;							LOW	2667/3735		PITM1_HUMAN			Transcript			.	ENSP00000348772		CCDS31620.1			1	
CCT8	0	LGGM	GRCh37	21	30428804	30428804	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	17	12	.	.	ENST00000286788.4:c.1639A>C	p.Asn547His	p.N547H	ENST00000286788	NM_006585.2	547	Aat/Cat	0	1	1	UPI0000136B0D	0	getma.org/pdb.php?prot=TCPQ_HUMAN&from=530&to=548&var=N547H	ENST00000286788		ENSG00000156261	1623		29	0.345		HGNC	p.N547H	COSM1632442	CCT8		SNV						1	ENST00000286788	protein_coding	getma.org/?cm=var&var=hg19,21,30428804,T,G&fts=all		hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF60		N/H		G	neutral	1846/2005		getma.org/?cm=msa&ty=f&p=TCPQ_HUMAN&rb=500&re=548&var=N547H	tolerated(0.1)	Q7Z759_HUMAN			YES	CCT8,missense_variant,p.Asn547His,ENST00000286788,NM_006585.2;CCT8,missense_variant,p.Asn528His,ENST00000542732,NM_001282907.1;CCT8,missense_variant,p.Asn474His,ENST00000540844,NM_001282909.1;CCT8,missense_variant,p.Asn106His,ENST00000432178,;USP16,downstream_gene_variant,,ENST00000334352,NM_001032410.1;USP16,downstream_gene_variant,,ENST00000399976,NM_006447.2;USP16,downstream_gene_variant,,ENST00000399975,NM_001001992.1;USP16,downstream_gene_variant,,ENST00000535828,;AF129075.5,downstream_gene_variant,,ENST00000457162,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;CCT8,non_coding_transcript_exon_variant,,ENST00000496121,;USP16,downstream_gene_variant,,ENST00000474835,;USP16,downstream_gene_variant,,ENST00000485067,;					1		MODERATE	1639/1647	N547H	TCPQ_HUMAN			Transcript		unknown(0)	.	ENSP00000286788		CCDS33528.1			1	
SUPT20H	0	LGGM	GRCh37	13	37595737	37595737	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	2	12	.	.	ENST00000350612.6:c.1664G>T	p.Gly555Val	p.G555V	ENST00000350612	NM_001014286.2	555	gGg/gTg	0	1	1	UPI00004566E3	0	NA	ENST00000350612		ENSG00000102710	20596		14	2.28		HGNC	p.G556V		SUPT20H		SNV							ENST00000356185	protein_coding	getma.org/?cm=var&var=hg19,13,37595737,C,A&fts=all		hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3		G/V		A	medium	1885/2739		getma.org/?cm=msa&ty=f&p=FA48A_HUMAN&rb=428&re=627&var=G555V	deleterious(0.04)				YES	SUPT20H,missense_variant,p.Gly556Val,ENST00000360252,NM_001278481.1,NM_017569.3;SUPT20H,missense_variant,p.Gly634Val,ENST00000475892,NM_001278480.1;SUPT20H,missense_variant,p.Gly555Val,ENST00000350612,NM_001014286.2;SUPT20H,missense_variant,p.Gly556Val,ENST00000356185,;SUPT20H,missense_variant,p.Gly556Val,ENST00000464744,NM_001278482.1;SUPT20H,missense_variant,p.Gly166Val,ENST00000469488,;SUPT20H,downstream_gene_variant,,ENST00000542180,;SUPT20H,downstream_gene_variant,,ENST00000466563,;SUPT20H,downstream_gene_variant,,ENST00000490602,;SUPT20H,downstream_gene_variant,,ENST00000476539,;SUPT20H,splice_region_variant,,ENST00000490716,;SUPT20H,splice_region_variant,,ENST00000495071,;SUPT20H,splice_region_variant,,ENST00000484078,;SUPT20H,downstream_gene_variant,,ENST00000493537,;SUPT20H,downstream_gene_variant,,ENST00000478911,;							MODERATE	1664/2340	G555V	SP20H_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000218894		CCDS31959.1			1	
KCNN2	0	LGGM	GRCh37	5	113699601	113699601	+	splice_acceptor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	26	13	.	.	ENST00000512097.3:c.487-2A>C		p.X163_splice	ENST00000512097				0	1		UPI000013D56A	0		ENST00000264773		ENSG00000080709	6291		39			HGNC	-		KCNN2		SNV							ENST00000512097	protein_coding							C		-/2515								KCNN2,splice_acceptor_variant,,ENST00000512097,;KCNN2,splice_acceptor_variant,,ENST00000264773,NM_001278204.1,NM_021614.3;KCNN2,splice_acceptor_variant,,ENST00000507750,;							HIGH	487/1740		KCNN2_HUMAN			Transcript			.	ENSP00000264773		CCDS4114.1			1	
CERKL	0	LGGM	GRCh37	2	182438478	182438478	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	20	13	.	.	ENST00000339098.5:c.613+2T>C		p.X205_splice	ENST00000339098				0	1	1	UPI000057259A	0		ENST00000339098		ENSG00000188452	21699		33			HGNC	-		CERKL		SNV			1				ENST00000410087	protein_coding							G		-/1677				G0XYE8_HUMAN,G0XYE7_HUMAN,G0XYD8_HUMAN			YES	CERKL,splice_donor_variant,,ENST00000410087,NM_001030311.2,NM_201548.4;CERKL,splice_donor_variant,,ENST00000339098,;CERKL,splice_donor_variant,,ENST00000374970,NM_001030313.2;CERKL,intron_variant,,ENST00000409440,NM_001160277.1;CERKL,intron_variant,,ENST00000374969,NM_001030312.2;CERKL,splice_donor_variant,,ENST00000479558,;CERKL,splice_donor_variant,,ENST00000460319,;CERKL,splice_donor_variant,,ENST00000476070,;CERKL,splice_donor_variant,,ENST00000466715,;CERKL,splice_donor_variant,,ENST00000494398,;CERKL,splice_donor_variant,,ENST00000374967,;CERKL,intron_variant,,ENST00000452174,;CERKL,intron_variant,,ENST00000421817,;							HIGH	613/1677		CERKL_HUMAN			Transcript			.	ENSP00000341159		CCDS42789.1			1	
F2	0	LGGM	GRCh37	11	46744971	46744971	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	12	13	.	.	ENST00000311907.5:c.462G>C	p.Glu154Asp	p.E154D	ENST00000311907	NM_000506.3	154	gaG/gaC	0	1	1	UPI0000136ECD	0	getma.org/pdb.php?prot=THRB_HUMAN&from=108&to=186&var=E154D	ENST00000311907		ENSG00000180210	3535		25	2.365		HGNC	p.E154D	rs764154260	F2		SNV			1				ENST00000530231	protein_coding	getma.org/?cm=var&var=hg19,11,46744971,G,C&fts=all		PROSITE_profiles:PS50070,hmmpanther:PTHR24254,hmmpanther:PTHR24254:SF8,Pfam_domain:PF00051,Gene3D:2.40.20.10,PIRSF_domain:PIRSF001149,SMART_domains:SM00130,Superfamily_domains:SSF57440,Prints_domain:PR00018		E/D		C	medium	518/2023	1.50E-05	getma.org/?cm=msa&ty=f&p=THRB_HUMAN&rb=108&re=186&var=E154D	tolerated(0.06)	Q8TD58_HUMAN,Q86WA1_HUMAN			YES	F2,missense_variant,p.Glu154Asp,ENST00000311907,NM_000506.3;F2,missense_variant,p.Glu154Asp,ENST00000530231,;F2,missense_variant,p.Glu144Asp,ENST00000442468,;F2,non_coding_transcript_exon_variant,,ENST00000490274,;F2,downstream_gene_variant,,ENST00000469189,;							MODERATE	462/1869	E154D	THRB_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000308541	8.24E-06	CCDS31476.1			1	
AFAP1L2	0	LGGM	GRCh37	10	116073660	116073660	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	8	13	.	.	ENST00000304129.4:c.762G>A	p.Gln254=	p.Q254=	ENST00000304129	NM_001287824.1	254	caG/caA	0	1	1	UPI0000071FAF	0		ENST00000304129		ENSG00000169129	25901		21			HGNC	p.Q254Q		AFAP1L2		SNV							ENST00000369271	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		Q		T		792/3705							YES	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,synonymous_variant,p.=,ENST00000419268,;							LOW	762/2457		AF1L2_HUMAN			Transcript			.	ENSP00000303042		CCDS31286.1			1	
FFAR1	0	LGGM	GRCh37	19	35842856	35842856	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	7	14	.	.	ENST00000246553.2:c.402C>T	p.Val134=	p.V134=	ENST00000246553	NM_005303.2	134	gtC/gtT	0	1	1	UPI000005045B	0		ENST00000246553		ENSG00000126266	4498		21			HGNC	p.V134V		FFAR1		SNV							ENST00000246553	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24231:SF33,hmmpanther:PTHR24231,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		V		T		412/923							YES	FFAR1,synonymous_variant,p.=,ENST00000246553,NM_005303.2;CD22,downstream_gene_variant,,ENST00000085219,NM_001771.3;CD22,downstream_gene_variant,,ENST00000270311,NM_001185100.1;CD22,downstream_gene_variant,,ENST00000536635,NM_001185099.1;CD22,downstream_gene_variant,,ENST00000341773,NM_001185101.1;CD22,downstream_gene_variant,,ENST00000601769,;							LOW	402/903		FFAR1_HUMAN			Transcript			.	ENSP00000246553		CCDS12458.1			1	
CNTN6	0	LGGM	GRCh37	3	1337336	1337336	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	13	15	.	.	ENST00000446702.2:c.506A>G	p.Asp169Gly	p.D169G	ENST00000446702		169	gAc/gGc	0	1		UPI0000072430	0	getma.org/pdb.php?prot=CNTN6_HUMAN&from=122&to=208&var=D169G	ENST00000350110		ENSG00000134115	2176		28	3.415		HGNC	p.D169G		CNTN6		SNV							ENST00000350110	protein_coding	getma.org/?cm=var&var=hg19,3,1337336,A,G&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF07679,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF52,PROSITE_profiles:PS50835		D/G		G	medium	1057/3814		getma.org/?cm=msa&ty=f&p=CNTN6_HUMAN&rb=122&re=208&var=D169G	deleterious(0.01)	F5H752_HUMAN				CNTN6,missense_variant,p.Asp169Gly,ENST00000446702,;CNTN6,missense_variant,p.Asp169Gly,ENST00000350110,NM_014461.2;CNTN6,missense_variant,p.Asp97Gly,ENST00000539053,;CNTN6,3_prime_UTR_variant,,ENST00000397479,;CNTN6,3_prime_UTR_variant,,ENST00000394261,;							MODERATE	506/3087	D169G	CNTN6_HUMAN			Transcript		possibly_damaging(0.615)	.	ENSP00000341882		CCDS2557.1			1	
TAF7	0	LGGM	GRCh37	5	140699595	140699595	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	18	15	.	.	ENST00000313368.5:c.17A>G	p.Asp6Gly	p.D6G	ENST00000313368	NM_005642.2	6	gAt/gGt	0	1	1	UPI00001367E8	0	NA	ENST00000313368		ENSG00000178913	11541		33	2.015		HGNC	p.D6G		TAF7		SNV							ENST00000313368	protein_coding	getma.org/?cm=var&var=hg19,5,140699595,T,C&fts=all		hmmpanther:PTHR12228,hmmpanther:PTHR12228:SF3		D/G		C	medium	736/2274		getma.org/?cm=msa&ty=f&p=TAF7_HUMAN&rb=1&re=41&var=D6G	deleterious(0.02)				YES	TAF7,missense_variant,p.Asp6Gly,ENST00000313368,NM_005642.2;AC005618.1,downstream_gene_variant,,ENST00000535969,;							MODERATE	17/1050	D6G	TAF7_HUMAN			Transcript		benign(0.248)	.	ENSP00000312709		CCDS4259.1			1	
RAD1	0	LGGM	GRCh37	5	34913640	34913640	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	15	15	.	.	ENST00000382038.2:c.242C>G	p.Thr81Ser	p.T81S	ENST00000382038	NM_002853.3	81	aCt/aGt	0	1		UPI000003159B	0	getma.org/pdb.php?prot=RAD1_HUMAN&from=16&to=257&var=T81S	ENST00000341754		ENSG00000113456	9806		30	0.23		HGNC	p.T81S		RAD1		SNV							ENST00000341754	protein_coding	getma.org/?cm=var&var=hg19,5,34913640,G,C&fts=all		Gene3D:3.70.10.10,Pfam_domain:PF02144,Prints_domain:PR01246,hmmpanther:PTHR10870		T/S		C	neutral	1141/2341		getma.org/?cm=msa&ty=f&p=RAD1_HUMAN&rb=16&re=257&var=T81S	tolerated(0.51)					RAD1,missense_variant,p.Thr81Ser,ENST00000382038,NM_002853.3;RAD1,missense_variant,p.Thr81Ser,ENST00000341754,;BRIX1,upstream_gene_variant,,ENST00000336767,NM_018321.3;BRIX1,upstream_gene_variant,,ENST00000506023,;RAD1,3_prime_UTR_variant,,ENST00000513914,;RAD1,intron_variant,,ENST00000325577,;RAD1,intron_variant,,ENST00000511456,;BRIX1,upstream_gene_variant,,ENST00000510834,;BRIX1,upstream_gene_variant,,ENST00000515798,;BRIX1,upstream_gene_variant,,ENST00000510960,;RAD1,downstream_gene_variant,,ENST00000506311,;RAD1,downstream_gene_variant,,ENST00000512192,;							MODERATE	242/849	T81S	RAD1_HUMAN			Transcript		benign(0.003)	.	ENSP00000340879		CCDS3905.1			1	
DLC1	0	LGGM	GRCh37	8	12956027	12956027	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	25	16	.	.	ENST00000276297.4:c.3048A>G	p.Val1016=	p.V1016=	ENST00000276297	NM_182643.2	1016	gtA/gtG	0	1	1	UPI0000210275	0		ENST00000276297		ENSG00000164741	2897		41			HGNC	p.V613V		DLC1		SNV							ENST00000512044	protein_coding			hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF2		V		C		3458/7447							YES	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,;							LOW	3048/4587		RHG07_HUMAN			Transcript			.	ENSP00000276297		CCDS5989.1			1	
ZFR	0	LGGM	GRCh37	5	32403228	32403228	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	43	16	.	.	ENST00000265069.8:c.1499C>G	p.Pro500Arg	p.P500R	ENST00000265069	NM_016107.3	500	cCc/cGc	0	1	1	UPI00001BBB38	0	NA	ENST00000265069		ENSG00000056097	17277		59	1.905		HGNC	p.P500R		ZFR		SNV			1				ENST00000265069	protein_coding	getma.org/?cm=var&var=hg19,5,32403228,G,C&fts=all		hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87		P/R		C	medium	1602/4738		getma.org/?cm=msa&ty=f&p=ZFR_HUMAN&rb=407&re=581&var=P500R	deleterious(0.03)	B3KP82_HUMAN			YES	ZFR,missense_variant,p.Pro500Arg,ENST00000265069,NM_016107.3;ZFR,downstream_gene_variant,,ENST00000505366,;							MODERATE	1499/3225	P500R	ZFR_HUMAN			Transcript		unknown(0)	.	ENSP00000265069		CCDS34139.1			1	
FZD6	0	LGGM	GRCh37	8	104336843	104336843	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	59	16	.	.	ENST00000358755.4:c.509G>C	p.Gly170Ala	p.G170A	ENST00000358755	NM_001164616.1	170	gGa/gCa	0	1	1	UPI0000061EB0	0	NA	ENST00000358755		ENSG00000164930	4044		75	1.355		HGNC	p.G170A		FZD6		SNV			1				ENST00000358755	protein_coding	getma.org/?cm=var&var=hg19,8,104336843,G,C&fts=all		hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF75		G/A		C	low	826/3788		getma.org/?cm=msa&ty=f&p=FZD6_HUMAN&rb=135&re=187&var=G170A	tolerated(0.49)	B7ZB79_HUMAN			YES	FZD6,missense_variant,p.Gly170Ala,ENST00000358755,NM_001164616.1,NM_003506.3;FZD6,missense_variant,p.Gly170Ala,ENST00000522566,NM_001164615.1;FZD6,missense_variant,p.Gly138Ala,ENST00000523739,;FZD6,intron_variant,,ENST00000540287,;FZD6,missense_variant,p.Gly170Ala,ENST00000522484,;FZD6,3_prime_UTR_variant,,ENST00000521195,;FZD6,intron_variant,,ENST00000519011,;FZD6,intron_variant,,ENST00000523933,;							MODERATE	509/2121	G170A	FZD6_HUMAN			Transcript		benign(0.102)	.	ENSP00000351605		CCDS6298.1			1	
NTNG1	0	LGGM	GRCh37	1	107867282	107867282	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	2	16	.	.	ENST00000370068.1:c.625G>A	p.Glu209Lys	p.E209K	ENST00000370068		209	Gag/Aag	0	1	1	UPI0000458A3E	0	getma.org/pdb.php?prot=NTNG1_HUMAN&from=50&to=295&var=E209K	ENST00000370068		ENSG00000162631	23319		18	1.935		HGNC	p.E209K		NTNG1		SNV			1				ENST00000370073	protein_coding	getma.org/?cm=var&var=hg19,1,107867282,G,A&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF28,SMART_domains:SM00136		E/K		A	medium	1471/4034		getma.org/?cm=msa&ty=f&p=NTNG1_HUMAN&rb=50&re=295&var=E209K	deleterious(0.04)	Q5IEC8_HUMAN			YES	NTNG1,missense_variant,p.Glu209Lys,ENST00000370067,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370068,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370073,NM_001113226.1;NTNG1,missense_variant,p.Glu209Lys,ENST00000370071,NM_001113228.1;NTNG1,missense_variant,p.Glu209Lys,ENST00000370074,NM_014917.2;NTNG1,missense_variant,p.Glu209Lys,ENST00000542803,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370061,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370072,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370070,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370065,;NTNG1,missense_variant,p.Glu209Lys,ENST00000370066,;NTNG1,non_coding_transcript_exon_variant,,ENST00000477948,;NTNG1,non_coding_transcript_exon_variant,,ENST00000294649,;							MODERATE	625/1620	E209K	NTNG1_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000359085		CCDS44180.1			1	
KPNA1	0	LGGM	GRCh37	3	122152598	122152598	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	39	16	.	.	ENST00000344337.6:c.1160G>A	p.Ser387Asn	p.S387N	ENST00000344337	NM_002264.3	387	aGt/aAt	0	1	1	UPI000013D524	0	getma.org/pdb.php?prot=IMA1_HUMAN&from=369&to=409&var=S387N	ENST00000344337		ENSG00000114030	6394		55	-0.06		HGNC	p.S387N		KPNA1		SNV							ENST00000344337	protein_coding	getma.org/?cm=var&var=hg19,3,122152598,C,T&fts=all		hmmpanther:PTHR23316:SF3,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF00514,SMART_domains:SM00185,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371		S/N		T	neutral	1337/6830		getma.org/?cm=msa&ty=f&p=IMA1_HUMAN&rb=369&re=409&var=S387N	tolerated(1)	C9JYI4_HUMAN,C9JWD9_HUMAN,C9J4U1_HUMAN,B3KXZ2_HUMAN			YES	KPNA1,missense_variant,p.Ser387Asn,ENST00000344337,NM_002264.3;RP11-299J3.8,intron_variant,,ENST00000609469,;RP11-299J3.8,downstream_gene_variant,,ENST00000608346,;KPNA1,non_coding_transcript_exon_variant,,ENST00000466923,;KPNA1,non_coding_transcript_exon_variant,,ENST00000470904,;KPNA1,3_prime_UTR_variant,,ENST00000494339,;KPNA1,3_prime_UTR_variant,,ENST00000485027,;							MODERATE	1160/1617	S387N	IMA5_HUMAN			Transcript		benign(0)	.	ENSP00000343701		CCDS3013.1			1	
CCT6A	0	LGGM	GRCh37	7	56127995	56127995	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	30	17	.	.	ENST00000275603.4:c.1099A>G	p.Asn367Asp	p.N367D	ENST00000275603	NM_001762.3	367	Aac/Gac	0	1	1	UPI0000136B11	0	getma.org/pdb.php?prot=TCPZ_HUMAN&from=30&to=525&var=N367D	ENST00000275603		ENSG00000146731	1620		47	0.375		HGNC	p.N322D		CCT6A		SNV							ENST00000335503	protein_coding	getma.org/?cm=var&var=hg19,7,56127995,A,G&fts=all		Superfamily_domains:SSF52029,Gene3D:3.50.7.10,TIGRFAM_domain:TIGR02347,Pfam_domain:PF00118,hmmpanther:PTHR11353:SF54,hmmpanther:PTHR11353		N/D		G	neutral	1318/2719		getma.org/?cm=msa&ty=f&p=TCPZ_HUMAN&rb=30&re=525&var=N367D	tolerated(0.17)				YES	CCT6A,missense_variant,p.Asn367Asp,ENST00000275603,NM_001762.3;CCT6A,missense_variant,p.Asn322Asp,ENST00000335503,NM_001009186.1;CCT6A,missense_variant,p.Asn336Asp,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,;CCT6A,non_coding_transcript_exon_variant,,ENST00000466572,;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,;SUMF2,upstream_gene_variant,,ENST00000498777,;SUMF2,upstream_gene_variant,,ENST00000529457,;CCT6A,upstream_gene_variant,,ENST00000494736,;CCT6A,downstream_gene_variant,,ENST00000493855,;							MODERATE	1099/1596	N367D	TCPZ_HUMAN			Transcript		benign(0.002)	.	ENSP00000275603		CCDS5523.1			1	
ESX1	0	LGGM	GRCh37	X	103499075	103499075	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	1	17	.	.	ENST00000372588.4:c.266C>T	p.Pro89Leu	p.P89L	ENST00000372588	NM_153448.3	89	cCg/cTg	0	1	1	UPI0000073D09	0	NA	ENST00000372588		ENSG00000123576	14865		18	0.695		HGNC	p.P89L		ESX1		SNV							ENST00000372588	protein_coding	getma.org/?cm=var&var=hg19,X,103499075,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24329:SF286,hmmpanther:PTHR24329		P/L		A	neutral	350/1495		getma.org/?cm=msa&ty=f&p=ESX1_HUMAN&rb=1&re=139&var=P89L	tolerated(0.27)	A6ZIU4_HUMAN,A6ZIT2_HUMAN			YES	ESX1,missense_variant,p.Pro89Leu,ENST00000372588,NM_153448.3;							MODERATE	266/1221	P89L	ESX1_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000361669		CCDS14516.1			1	
KCNH4	0	LGGM	GRCh37	17	40328313	40328313	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	25	17	.	.	ENST00000264661.3:c.588C>T	p.Asn196=	p.N196=	ENST00000264661	NM_012285.2	196	aaC/aaT	0	1	1	UPI000012DCA8	0		ENST00000264661		ENSG00000089558	6253		42			HGNC	p.N196N	rs369640270	KCNH4		SNV	A:0.0005			0.0002			ENST00000264661	protein_coding			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378		N	A:0	A		921/3920							YES	KCNH4,splice_region_variant,p.=,ENST00000264661,NM_012285.2;KCNH4,splice_region_variant,p.=,ENST00000607371,;							LOW	588/3054		KCNH4_HUMAN			Transcript			.	ENSP00000264661	1.65E-05	CCDS11420.1			1	
PHF20L1	0	LGGM	GRCh37	8	133850030	133850030	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	7	17	.	.	ENST00000395386.2:c.2165T>G	p.Ile722Ser	p.I722S	ENST00000395386	NM_016018.4	722	aTc/aGc	0	1	1	UPI0000DBD7AF	0	getma.org/pdb.php?prot=P20L1_HUMAN&from=683&to=729&var=I722S	ENST00000395386		ENSG00000129292	24280		24	0.805		HGNC	p.I109S		PHF20L1		SNV							ENST00000220847	protein_coding	getma.org/?cm=var&var=hg19,8,133850030,T,G&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00628,PROSITE_patterns:PS01359,hmmpanther:PTHR15856,hmmpanther:PTHR15856:SF26,Superfamily_domains:SSF57903		I/S		G	low	2464/6237		getma.org/?cm=msa&ty=f&p=P20L1_HUMAN&rb=683&re=729&var=I722S	tolerated(0.16)	E5RK91_HUMAN,B3KWX5_HUMAN			YES	PHF20L1,missense_variant,p.Ile722Ser,ENST00000395386,NM_016018.4;PHF20L1,missense_variant,p.Ile697Ser,ENST00000395390,NM_001277196.1;PHF20L1,missense_variant,p.Ile109Ser,ENST00000220847,;AF230666.2,downstream_gene_variant,,ENST00000608375,;AF230666.2,downstream_gene_variant,,ENST00000429151,;PHF20L1,3_prime_UTR_variant,,ENST00000460236,;PHF20L1,non_coding_transcript_exon_variant,,ENST00000493126,;PHF20L1,upstream_gene_variant,,ENST00000477051,;							MODERATE	2165/3054	I722S	P20L1_HUMAN			Transcript		benign(0.005)	.	ENSP00000378784		CCDS6367.2			1	
OR2T2	0	LGGM	GRCh37	1	248616450	248616450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	119	17	.	.	ENST00000342927.3:c.352C>A	p.Leu118Ile	p.L118I	ENST00000342927	NM_001004136.1	118	Ctc/Atc	0	1	1	UPI0000048DB0	0	getma.org/pdb.php?prot=OR2T2_HUMAN&from=1&to=139&var=L118I	ENST00000342927		ENSG00000196240	14725		136	0.64		HGNC	p.L118I		OR2T2		SNV							ENST00000342927	protein_coding	getma.org/?cm=var&var=hg19,1,248616450,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF18,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/I		A	neutral	374/1054		getma.org/?cm=msa&ty=f&p=OR2T2_HUMAN&rb=1&re=139&var=L118I	tolerated(0.08)				YES	OR2T2,missense_variant,p.Leu118Ile,ENST00000342927,NM_001004136.1;							MODERATE	352/975	L118I	OR2T2_HUMAN			Transcript		benign(0.254)	.	ENSP00000343062		CCDS31116.1			1	
DAW1	0	LGGM	GRCh37	2	228767793	228767793	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	29	17	.	.	ENST00000309931.2:c.616A>T	p.Ile206Phe	p.I206F	ENST00000309931	NM_178821.1	206	Att/Ttt	0	1	1	UPI000006EAC6	0	getma.org/pdb.php?prot=WDR69_HUMAN&from=206&to=208&var=I206F	ENST00000309931		ENSG00000123977	26383		46	1.26		HGNC	p.I191F		DAW1		SNV							ENST00000545118	protein_coding	getma.org/?cm=var&var=hg19,2,228767793,A,T&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Superfamily_domains:SSF50978,Prints_domain:PR00320		I/F		T	low	699/1704		getma.org/?cm=msa&ty=f&p=WDR69_HUMAN&rb=176&re=238&var=I206F	deleterious(0.02)	G5EA46_HUMAN,C9JP90_HUMAN			YES	DAW1,missense_variant,p.Ile206Phe,ENST00000373666,;DAW1,missense_variant,p.Ile206Phe,ENST00000309931,NM_178821.1;DAW1,missense_variant,p.Ile191Phe,ENST00000545118,;DAW1,3_prime_UTR_variant,,ENST00000454999,;							MODERATE	616/1248	I206F	DAW1_HUMAN			Transcript		benign(0.019)	.	ENSP00000311899		CCDS2470.1			1	
PHF14	0	LGGM	GRCh37	7	11022136	11022136	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	46	18	.	.	ENST00000403050.3:c.250T>G	p.Ser84Ala	p.S84A	ENST00000403050	NM_014660.3	84	Tct/Gct	0	1	1	UPI000020EB41	0	NA	ENST00000403050		ENSG00000106443	22203		64	-0.345		HGNC	p.S84A		PHF14		SNV							ENST00000403050	protein_coding	getma.org/?cm=var&var=hg19,7,11022136,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13793:SF10,hmmpanther:PTHR13793		S/A		G	neutral	702/4276		getma.org/?cm=msa&ty=f&p=PHF14_HUMAN&rb=1&re=200&var=S84A	tolerated_low_confidence(1)				YES	PHF14,missense_variant,p.Ser84Ala,ENST00000403050,NM_014660.3;PHF14,intron_variant,,ENST00000445996,;PHF14,intron_variant,,ENST00000476009,;PHF14,non_coding_transcript_exon_variant,,ENST00000490957,;PHF14,intron_variant,,ENST00000423760,;PHF14,intron_variant,,ENST00000521747,;							MODERATE	250/2667	S84A	PHF14_HUMAN			Transcript		unknown(0)	.	ENSP00000385795		CCDS47542.1			1	
SDHA	0	LGGM	GRCh37	5	236608	236608	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	21	18	.	.	ENST00000264932.6:c.1326C>T	p.Ala442=	p.A442=	ENST00000264932	NM_004168.2	442	gcC/gcT	0	1	1	UPI0000000C2C	0		ENST00000264932		ENSG00000073578	10680		39			HGNC	p.A442A		SDHA		SNV			1				ENST00000504309	protein_coding			hmmpanther:PTHR11632,hmmpanther:PTHR11632:SF37,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01816,Pfam_domain:PF00890,TIGRFAM_domain:TIGR01812,Superfamily_domains:SSF51905		A		T		1441/2390				Q0QF12_HUMAN,B3KT34_HUMAN			YES	SDHA,synonymous_variant,p.=,ENST00000264932,NM_004168.2;SDHA,synonymous_variant,p.=,ENST00000510361,;SDHA,synonymous_variant,p.=,ENST00000504309,;SDHA,upstream_gene_variant,,ENST00000515815,;SDHA,downstream_gene_variant,,ENST00000514233,;SDHA,upstream_gene_variant,,ENST00000509082,;SDHA,non_coding_transcript_exon_variant,,ENST00000511810,;SDHA,non_coding_transcript_exon_variant,,ENST00000505555,;SDHA,non_coding_transcript_exon_variant,,ENST00000514027,;SDHA,non_coding_transcript_exon_variant,,ENST00000515752,;SDHA,non_coding_transcript_exon_variant,,ENST00000512962,;SDHA,downstream_gene_variant,,ENST00000504824,;							LOW	1326/1995		DHSA_HUMAN			Transcript			.	ENSP00000264932		CCDS3853.1			1	
ARID1A	0	LGGM	GRCh37	1	27101712	27101712	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	4	20	.	.	ENST00000324856.7:c.4993+1G>A		p.X1665_splice	ENST00000324856	NM_006015.4			0	1	1	UPI0000167B91	0		ENST00000324856		ENSG00000117713	11110		24			HGNC	-		ARID1A		SNV			1				ENST00000324856	protein_coding							A		-/8577				Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,splice_donor_variant,,ENST00000324856,NM_006015.4;ARID1A,splice_donor_variant,,ENST00000457599,NM_139135.2;ARID1A,splice_donor_variant,,ENST00000374152,;ARID1A,splice_donor_variant,,ENST00000430799,;ARID1A,intron_variant,,ENST00000540690,;ARID1A,splice_donor_variant,,ENST00000532781,;ARID1A,intron_variant,,ENST00000466382,;							HIGH	4993/6858		ARI1A_HUMAN			Transcript			.	ENSP00000320485		CCDS285.1			1	
TRIM42	0	LGGM	GRCh37	3	140409844	140409844	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	35	20	.	.	ENST00000286349.3:c.1895C>G	p.Ser632Cys	p.S632C	ENST00000286349	NM_152616.4	632	tCt/tGt	0	1	1	UPI00001AEAE0	0	NA	ENST00000286349		ENSG00000155890	19014		55	0.345		HGNC	p.S632C	COSM1484682	TRIM42		SNV						1	ENST00000286349	protein_coding	getma.org/?cm=var&var=hg19,3,140409844,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,SMART_domains:SM00060,Superfamily_domains:SSF49265		S/C		G	neutral	2086/2539		getma.org/?cm=msa&ty=f&p=TRI42_HUMAN&rb=606&re=691&var=S632C	tolerated(0.15)				YES	TRIM42,missense_variant,p.Ser632Cys,ENST00000286349,NM_152616.4;					1		MODERATE	1895/2172	S632C	TRI42_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000286349		CCDS3113.1			1	
SUGP2	0	LGGM	GRCh37	19	19136097	19136097	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	36	20	.	.	ENST00000601879.1:c.1060C>G	p.Leu354Val	p.L354V	ENST00000601879		354	Ctc/Gtc	0	1		UPI000019825D	0	NA	ENST00000337018		ENSG00000064607	18641		56	0.975		HGNC	p.L368V		SUGP2		SNV							ENST00000600377	protein_coding	getma.org/?cm=var&var=hg19,19,19136097,G,C&fts=all		hmmpanther:PTHR23340:SF2,hmmpanther:PTHR23340		L/V		C	low	1194/3640		getma.org/?cm=msa&ty=f&p=SUGP2_HUMAN&rb=1&re=585&var=L354V	deleterious(0)	M0R065_HUMAN				SUGP2,missense_variant,p.Leu354Val,ENST00000601879,;SUGP2,missense_variant,p.Leu368Val,ENST00000600377,;SUGP2,missense_variant,p.Leu354Val,ENST00000452918,NM_001017392.3;SUGP2,missense_variant,p.Leu354Val,ENST00000337018,NM_014884.3;SUGP2,missense_variant,p.Leu123Val,ENST00000456085,;SUGP2,downstream_gene_variant,,ENST00000594445,;SUGP2,downstream_gene_variant,,ENST00000598202,;SUGP2,missense_variant,p.Leu354Val,ENST00000600239,;SUGP2,missense_variant,p.Leu354Val,ENST00000594773,;SUGP2,missense_variant,p.Leu354Val,ENST00000330854,;SUGP2,3_prime_UTR_variant,,ENST00000598240,;							MODERATE	1060/3249	L354V	SUGP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000337926		CCDS12392.1			1	
HEPH	0	LGGM	GRCh37	X	65486424	65486424	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	5	20	.	.	ENST00000519389.1:c.3549G>A	p.Val1183=	p.V1183=	ENST00000519389		1183	gtG/gtA	0	1		UPI000004D26F	0		ENST00000343002		ENSG00000089472	4866		25			HGNC	p.V1129V		HEPH		SNV							ENST00000343002	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		V		A		4051/4854				Q5JZ07_HUMAN,Q1HE23_HUMAN,B4DFV3_HUMAN				HEPH,synonymous_variant,p.=,ENST00000519389,;HEPH,synonymous_variant,p.=,ENST00000343002,;HEPH,synonymous_variant,p.=,ENST00000374727,NM_138737.3;HEPH,synonymous_variant,p.=,ENST00000441993,NM_001130860.2;HEPH,synonymous_variant,p.=,ENST00000336279,NM_014799.2;HEPH,synonymous_variant,p.=,ENST00000419594,NM_001282141.1;							LOW	3387/3477		HEPH_HUMAN			Transcript			.	ENSP00000343939					1	
ERBB2IP	0	LGGM	GRCh37	5	65309463	65309463	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	33	20	.	.	ENST00000506030.1:c.473G>A	p.Gly158Asp	p.G158D	ENST00000506030		158	gGc/gAc	0	1		UPI000013C941	0	NA	ENST00000284037		ENSG00000112851	15842		53	2.17		HGNC	p.G158D	rs754857498	ERBB2IP	6.06E-05	SNV							ENST00000380939	protein_coding	getma.org/?cm=var&var=hg19,5,65309463,G,A&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF421,SMART_domains:SM00369,Superfamily_domains:SSF52058		G/D		A	medium	862/8647		getma.org/?cm=msa&ty=f&p=LAP2_HUMAN&rb=114&re=160&var=G158D	deleterious(0)					ERBB2IP,missense_variant,p.Gly158Asp,ENST00000284037,NM_001253697.1;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000380939,;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000380936,;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000380935,NM_001006600.2;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000380943,NM_001253699.1,NM_001253701.1,NM_018695.3;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000380938,NM_001253698.1;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000506030,;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000508515,;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000511297,;ERBB2IP,missense_variant,p.Gly158Asp,ENST00000416865,;							MODERATE	473/4239	G158D	LAP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000284037	8.24E-06	CCDS58953.1			1	
NFE2L3	0	LGGM	GRCh37	7	26223341	26223341	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	56	21	.	.	ENST00000056233.3:c.771T>C	p.Asp257=	p.D257=	ENST00000056233	NM_004289.6	257	gaT/gaC	0	1	1	UPI000007206C	0		ENST00000056233		ENSG00000050344	7783		77			HGNC	p.D257D	rs750113875	NFE2L3		SNV							ENST00000056233	protein_coding			hmmpanther:PTHR24411,hmmpanther:PTHR24411:SF8		D		C		1030/3686							YES	NFE2L3,synonymous_variant,p.=,ENST00000056233,NM_004289.6;NFE2L3,synonymous_variant,p.=,ENST00000607375,;NFE2L3,upstream_gene_variant,,ENST00000606261,;	0.000347						LOW	771/2085		NF2L3_HUMAN			Transcript			.	ENSP00000056233	2.47E-05	CCDS5396.1			1	
CPT1C	0	LGGM	GRCh37	19	50208510	50208510	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	36	21	.	.	ENST00000392518.4:c.919T>A	p.Tyr307Asn	p.Y307N	ENST00000392518	NM_001199752.1	307	Tac/Aac	0	1		UPI0000071C78	0	getma.org/pdb.php?prot=CPT1C_HUMAN&from=170&to=760&var=Y307N	ENST00000323446		ENSG00000169169	18540		57	3.15		HGNC	p.Y307N		CPT1C		SNV							ENST00000392518	protein_coding	getma.org/?cm=var&var=hg19,19,50208510,T,A&fts=all		hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF55,Pfam_domain:PF00755,Superfamily_domains:SSF52777		Y/N		A	medium	1164/2783		getma.org/?cm=msa&ty=f&p=CPT1C_HUMAN&rb=170&re=760&var=Y307N	deleterious(0)	M0R2V3_HUMAN,M0R115_HUMAN,M0QZ13_HUMAN,B3KU49_HUMAN				CPT1C,missense_variant,p.Tyr307Asn,ENST00000392518,NM_001199752.1;CPT1C,missense_variant,p.Tyr296Asn,ENST00000405931,NM_001136052.2;CPT1C,missense_variant,p.Tyr307Asn,ENST00000323446,NM_152359.2;CPT1C,missense_variant,p.Tyr307Asn,ENST00000598293,NM_001199753.1;CPT1C,missense_variant,p.Tyr307Asn,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,;							MODERATE	919/2412	Y307N	CPT1C_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000319343		CCDS12779.1			1	
CYSLTR1	0	LGGM	GRCh37	X	77528870	77528870	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	4	21	.	.	ENST00000373304.3:c.374T>C	p.Ile125Thr	p.I125T	ENST00000373304	NM_001282188.1	125	aTt/aCt	0	1	1	UPI000003ACDF	0	getma.org/pdb.php?prot=CLTR1_HUMAN&from=40&to=295&var=I125T	ENST00000373304		ENSG00000173198	17451		25	1.655		HGNC	p.I125T		CYSLTR1		SNV							ENST00000373304	protein_coding	getma.org/?cm=var&var=hg19,X,77528870,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24230:SF12,hmmpanther:PTHR24230,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/T		G	low	667/2576		getma.org/?cm=msa&ty=f&p=CLTR1_HUMAN&rb=40&re=295&var=I125T	tolerated(0.31)	Q38Q91_HUMAN,Q38Q88_HUMAN			YES	CYSLTR1,missense_variant,p.Ile125Thr,ENST00000373304,NM_001282188.1,NM_001282187.1,NM_006639.3,NM_001282186.1;							MODERATE	374/1014	I125T	CLTR1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000362401		CCDS14439.1			1	
PMS1	0	LGGM	GRCh37	2	190660572	190660572	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	34	22	.	.	ENST00000441310.2:c.210A>G	p.Ala70=	p.A70=	ENST00000441310	NM_000534.4	70	gcA/gcG	0	1	1	UPI00000405F5	0		ENST00000441310		ENSG00000064933	9121		56			HGNC	p.A70A		PMS1		SNV			1				ENST00000450931	protein_coding			hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF38,Gene3D:3.30.565.10,TIGRFAM_domain:TIGR00585,Pfam_domain:PF13589,Superfamily_domains:SSF55874		A		G		443/3225				Q5FBZ2_HUMAN,C9JKP0_HUMAN,C9JF76_HUMAN,C9J4L1_HUMAN,B7ZAA0_HUMAN			YES	PMS1,synonymous_variant,p.=,ENST00000441310,NM_000534.4;PMS1,synonymous_variant,p.=,ENST00000409823,NM_001128143.1;PMS1,synonymous_variant,p.=,ENST00000447232,NM_001128144.1;PMS1,synonymous_variant,p.=,ENST00000409985,;PMS1,synonymous_variant,p.=,ENST00000374826,;PMS1,synonymous_variant,p.=,ENST00000424766,;PMS1,synonymous_variant,p.=,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,synonymous_variant,p.=,ENST00000342075,;PMS1,synonymous_variant,p.=,ENST00000450931,;PMS1,intron_variant,,ENST00000447734,;							LOW	210/2799		PMS1_HUMAN			Transcript			.	ENSP00000406490		CCDS2302.1			1	
SV2A	0	LGGM	GRCh37	1	149882421	149882421	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	28	23	.	.	ENST00000369146.3:c.912C>T	p.Gly304=	p.G304=	ENST00000369146	NM_014849.4	304	ggC/ggT	0	1	1	UPI000000DAD2	0		ENST00000369146		ENSG00000159164	20566	0.000173	51			HGNC	p.G304G	rs587625839	SV2A	0.00267	SNV							ENST00000369146	protein_coding		A:0	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24065:SF4,hmmpanther:PTHR24065,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR01299,Pfam_domain:PF00083,Superfamily_domains:SSF103473		G		A		1403/4416	1.50E-05				A:0	A:0	YES	SV2A,synonymous_variant,p.=,ENST00000369146,NM_014849.4,NM_001278719.1;SV2A,synonymous_variant,p.=,ENST00000369145,;	0.000231	A:0.0010					LOW	912/2229		SV2A_HUMAN		A:0	Transcript			common_variant	ENSP00000358142	0.000404	CCDS940.1		A:0.0051	1	
OR10H1	0	LGGM	GRCh37	19	15917895	15917895	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	26	24	.	.	ENST00000334920.2:c.953T>C	p.Met318Thr	p.M318T	ENST00000334920	NM_013940.2	318	aTg/aCg	0	1	1	UPI000004CA3D	0	NA	ENST00000334920		ENSG00000186723	8172	0.000606	50	0		HGNC	p.M318T	rs746303560	OR10H1		SNV							ENST00000334920	protein_coding	getma.org/?cm=var&var=hg19,19,15917895,A,G&fts=all		hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF85		M/T		G	neutral	1042/1120	1.51E-05	getma.org/?cm=msa&ty=f&p=O10H1_HUMAN&rb=285&re=318&var=M318T	deleterious_low_confidence(0.02)				YES	OR10H1,missense_variant,p.Met318Thr,ENST00000334920,NM_013940.2;							MODERATE	953/957	M318T	O10H1_HUMAN			Transcript		benign(0)	common_variant	ENSP00000335596	8.24E-05	CCDS12335.1	0.00224		1	
PRR14	0	LGGM	GRCh37	16	30666710	30666710	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	8	24	.	.	ENST00000542965.2:c.1283A>G	p.Lys428Arg	p.K428R	ENST00000542965		428	aAg/aGg	0	1		UPI000006F1D0	0	NA	ENST00000300835		ENSG00000156858	28458		32	1.1		HGNC	p.K428R		PRR14		SNV							ENST00000542965	protein_coding	getma.org/?cm=var&var=hg19,16,30666710,A,G&fts=all		hmmpanther:PTHR14522		K/R		G	low	1594/2198		getma.org/?cm=msa&ty=f&p=PRR14_HUMAN&rb=1&re=430&var=K428R	deleterious(0.02)	H3BQL8_HUMAN,H3BND2_HUMAN				PRR14,missense_variant,p.Lys428Arg,ENST00000542965,;PRR14,missense_variant,p.Lys428Arg,ENST00000300835,NM_024031.2;FBRS,upstream_gene_variant,,ENST00000356166,;FBRS,upstream_gene_variant,,ENST00000568722,;PRR14,downstream_gene_variant,,ENST00000568754,;PRR14,downstream_gene_variant,,ENST00000569864,;PRR14,non_coding_transcript_exon_variant,,ENST00000571654,;PRR14,non_coding_transcript_exon_variant,,ENST00000287463,;PRR14,non_coding_transcript_exon_variant,,ENST00000564946,;PRR14,non_coding_transcript_exon_variant,,ENST00000567322,;PRR14,non_coding_transcript_exon_variant,,ENST00000567989,;FBRS,upstream_gene_variant,,ENST00000543786,;PRR14,downstream_gene_variant,,ENST00000563211,;PRR14,upstream_gene_variant,,ENST00000565977,;PRR14,downstream_gene_variant,,ENST00000565410,;PRR14,downstream_gene_variant,,ENST00000563399,;FBRS,upstream_gene_variant,,ENST00000484152,;FBRS,upstream_gene_variant,,ENST00000498588,;							MODERATE	1283/1758	K428R	PRR14_HUMAN			Transcript		benign(0.156)	.	ENSP00000300835		CCDS10687.1			1	
CHL1	0	LGGM	GRCh37	3	367645	367645	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	24	24	.	.	ENST00000256509.2:c.95A>C	p.Gln32Pro	p.Q32P	ENST00000256509	NM_001253388.1	32	cAa/cCa	0	1		UPI0000E08093	0	NA	ENST00000397491		ENSG00000134121	1939		48	0		HGNC	p.Q32P		CHL1		SNV			1				ENST00000421198	protein_coding	getma.org/?cm=var&var=hg19,3,367645,A,C&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122		Q/P		C	neutral	562/5235		getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=1&re=34&var=Q32P	tolerated(0.24)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN				CHL1,missense_variant,p.Gln32Pro,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Gln32Pro,ENST00000397491,;CHL1,missense_variant,p.Gln32Pro,ENST00000435603,;CHL1,missense_variant,p.Gln32Pro,ENST00000449294,;CHL1,missense_variant,p.Gln32Pro,ENST00000427688,;CHL1,missense_variant,p.Gln32Pro,ENST00000421198,;CHL1,non_coding_transcript_exon_variant,,ENST00000461289,;CHL1,3_prime_UTR_variant,,ENST00000453040,;							MODERATE	95/3627	Q32P	CHL1_HUMAN			Transcript		benign(0)	.	ENSP00000380628		CCDS58812.1			1	
SPOPL	0	LGGM	GRCh37	2	139316665	139316665	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	35	25	.	.	ENST00000280098.4:c.554G>C	p.Arg185Pro	p.R185P	ENST00000280098	NM_001001664.2	185	cGt/cCt	0	1	1	UPI0000208BED	0	getma.org/pdb.php?prot=SPOPL_HUMAN&from=164&to=189&var=R185P	ENST00000280098		ENSG00000144228	27934		60	2.54		HGNC	p.R185P		SPOPL		SNV							ENST00000280098	protein_coding	getma.org/?cm=var&var=hg19,2,139316665,G,C&fts=all		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF91,Gene3D:3.30.710.10,Superfamily_domains:SSF54695		R/P		C	medium	933/6025		getma.org/?cm=msa&ty=f&p=SPOPL_HUMAN&rb=134&re=219&var=R185P	tolerated(0.28)	B4DEY7_HUMAN			YES	SPOPL,missense_variant,p.Arg185Pro,ENST00000280098,NM_001001664.2;SPOPL,3_prime_UTR_variant,,ENST00000420679,;							MODERATE	554/1179	R185P	SPOPL_HUMAN			Transcript		benign(0.144)	.	ENSP00000280098		CCDS33298.1			1	
MRAS	0	LGGM	GRCh37	3	138091770	138091770	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	26	25	.	.	ENST00000289104.4:c.45G>A	p.Lys15=	p.K15=	ENST00000289104	NM_012219.4	15	aaG/aaA	0	1	1	UPI0000001253	0		ENST00000289104		ENSG00000158186	7227		51			HGNC	p.K15K		MRAS		SNV							ENST00000289104	protein_coding			Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00173,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR24070:SF179,hmmpanther:PTHR24070,PROSITE_profiles:PS51421		K		A		692/4538				Q6FGP0_HUMAN,C9J8Q6_HUMAN,C9J601_HUMAN			YES	MRAS,synonymous_variant,p.=,ENST00000289104,NM_012219.4,NM_001252091.1,NM_001252090.1,NM_001085049.2;MRAS,synonymous_variant,p.=,ENST00000423968,;MRAS,synonymous_variant,p.=,ENST00000474559,;MRAS,synonymous_variant,p.=,ENST00000475711,;MRAS,intron_variant,,ENST00000464896,NM_001252092.1,NM_001252093.1;MRAS,intron_variant,,ENST00000494949,;							LOW	45/627		RASM_HUMAN			Transcript			.	ENSP00000289104		CCDS3100.1			1	
MTNR1A	0	LGGM	GRCh37	4	187455650	187455650	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	9	25	.	.	ENST00000307161.5:c.246G>A	p.Pro82=	p.P82=	ENST00000307161	NM_005958.3	82	ccG/ccA	0	1	1	UPI0000050407	0		ENST00000307161		ENSG00000168412	7463		34			HGNC	p.P82P	rs541660089,COSM3696584	MTNR1A	0.000424	SNV						0,1	ENST00000307161	protein_coding		T:0	Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF52,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		P		T		448/1289	1.50E-05				T:0	T:0.001	YES	MTNR1A,synonymous_variant,p.=,ENST00000307161,NM_005958.3;RP11-215A19.2,intron_variant,,ENST00000509111,;	0.000116	T:0.0004			0,1		LOW	246/1053		MTR1A_HUMAN		T:0	Transcript			common_variant	ENSP00000302811	7.41E-05	CCDS3848.1		T:0.001	1	
TNN	0	LGGM	GRCh37	1	175053020	175053020	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	34	26	.	.	ENST00000239462.4:c.1183G>T	p.Glu395Ter	p.E395*	ENST00000239462	NM_022093.1	395	Gag/Tag	0	1	1	UPI00001D7DA9	0	NA	ENST00000239462		ENSG00000120332	22942		60	0		HGNC	p.E395X		TNN		SNV							ENST00000239462	protein_coding	getma.org/?cm=var&var=hg19,1,175053020,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF167,SMART_domains:SM00060,Superfamily_domains:SSF49265		E/*		T	NA	1296/5008		NA					YES	TNN,stop_gained,p.Glu395Ter,ENST00000239462,NM_022093.1;							HIGH	1183/3900	E395*	TENN_HUMAN			Transcript			.	ENSP00000239462		CCDS30943.1			1	
CENPE	0	LGGM	GRCh37	4	104084354	104084354	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	6	27	.	.	ENST00000265148.3:c.1782A>G	p.Leu594=	p.L594=	ENST00000265148	NM_001813.2	594	ctA/ctG	0	1	1	UPI000020B28A	0		ENST00000265148		ENSG00000138778	1856		33			HGNC	p.L594L		CENPE		SNV			1				ENST00000265148	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF384		L		C		1872/8612				D6RBW0_HUMAN			YES	CENPE,synonymous_variant,p.=,ENST00000265148,NM_001813.2;CENPE,synonymous_variant,p.=,ENST00000380026,NM_001286734.1;CENPE,synonymous_variant,p.=,ENST00000503705,;							LOW	1782/8106		CENPE_HUMAN			Transcript			.	ENSP00000265148		CCDS34042.1			1	
MARK4	0	LGGM	GRCh37	19	45768104	45768104	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	33	28	.	.	ENST00000262891.4:c.428del	p.Val143GlyfsTer11	p.V143Gfs*11	ENST00000262891	NM_001199867.1	143	gTg/gg	0	1	1	UPI0000044D47	0		ENST00000262891		ENSG00000007047	13538		61			HGNC	p.V143fs		MARK4		deletion							ENST00000262891	protein_coding			Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF22,SMART_domains:SM00220,Superfamily_domains:SSF56112		V/X		-		759/3573				Q96GZ3_HUMAN,K7EKG8_HUMAN,K7EK17_HUMAN			YES	MARK4,frameshift_variant,p.Val143GlyfsTer11,ENST00000300843,NM_031417.3;MARK4,frameshift_variant,p.Val143GlyfsTer11,ENST00000262891,NM_001199867.1;MARK4,frameshift_variant,p.Val34GlyfsTer11,ENST00000590909,;MARK4,frameshift_variant,p.Val34GlyfsTer11,ENST00000587566,;MARK4,non_coding_transcript_exon_variant,,ENST00000588621,;MARK4,non_coding_transcript_exon_variant,,ENST00000588533,;MARK4,intron_variant,,ENST00000592762,;							HIGH	428/2259		MARK4_HUMAN			Transcript			.	ENSP00000262891		CCDS56097.1			1	
DDX4	0	LGGM	GRCh37	5	55110985	55110985	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	41	29	.	.	ENST00000505374.1:c.1972A>G	p.Lys658Glu	p.K658E	ENST00000505374	NM_024415.2	658	Aaa/Gaa	0	1	1	UPI00001290D3	0	getma.org/pdb.php?prot=DDX4_HUMAN&from=530&to=675&var=K658E	ENST00000505374		ENSG00000152670	18700		70	0.84		HGNC	p.K624E		DDX4		SNV							ENST00000353507	protein_coding	getma.org/?cm=var&var=hg19,5,55110985,A,G&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF168,Superfamily_domains:SSF52540		K/E		G	low	2064/2884		getma.org/?cm=msa&ty=f&p=DDX4_HUMAN&rb=530&re=675&var=K658E	deleterious(0)	D6RBL3_HUMAN,D6RAF5_HUMAN			YES	DDX4,missense_variant,p.Lys658Glu,ENST00000505374,NM_024415.2;DDX4,missense_variant,p.Lys624Glu,ENST00000353507,NM_001142549.1;DDX4,missense_variant,p.Lys638Glu,ENST00000514278,NM_001166533.1;DDX4,missense_variant,p.Lys624Glu,ENST00000354991,;DDX4,missense_variant,p.Lys509Glu,ENST00000511853,NM_001166534.1;DDX4,3_prime_UTR_variant,,ENST00000503129,;							MODERATE	1972/2175	K658E	DDX4_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000424838		CCDS3969.1			1	
ARL2BP	0	LGGM	GRCh37	16	57282476	57282476	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	9	29	.	.	ENST00000219204.3:c.128A>C	p.Asn43Thr	p.N43T	ENST00000219204	NM_012106.3	43	aAt/aCt	0	1	1	UPI00000372F1	0	getma.org/pdb.php?prot=AR2BP_HUMAN&from=16&to=136&var=N43T	ENST00000219204		ENSG00000102931	17146		38	1.5		HGNC	p.N43T		ARL2BP		SNV			1				ENST00000219204	protein_coding	getma.org/?cm=var&var=hg19,16,57282476,A,C&fts=all		Gene3D:2k0sA00,Pfam_domain:PF11527,hmmpanther:PTHR15487,hmmpanther:PTHR15487:SF4		N/T		C	low	398/2099		getma.org/?cm=msa&ty=f&p=AR2BP_HUMAN&rb=16&re=136&var=N43T	tolerated(0.27)				YES	ARL2BP,missense_variant,p.Asn43Thr,ENST00000219204,NM_012106.3;ARL2BP,missense_variant,p.Asn41Thr,ENST00000563234,;ARL2BP,intron_variant,,ENST00000562023,;RP11-407G23.3,non_coding_transcript_exon_variant,,ENST00000564376,;RP11-407G23.4,downstream_gene_variant,,ENST00000562409,;ARL2BP,downstream_gene_variant,,ENST00000565794,;							MODERATE	128/492	N43T	AR2BP_HUMAN			Transcript		benign(0.034)	.	ENSP00000219204		CCDS10776.1			1	
CA5B	0	LGGM	GRCh37	X	15790708	15790708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	8	31	.	.	ENST00000318636.3:c.430A>G	p.Thr144Ala	p.T144A	ENST00000318636	NM_007220.3	144	Acc/Gcc	0	1	1	UPI0000126D58	0	getma.org/pdb.php?prot=CAH5B_HUMAN&from=39&to=296&var=T144A	ENST00000318636		ENSG00000169239	1378		39	1.98		HGNC	p.T144A		CA5B		SNV							ENST00000454127	protein_coding	getma.org/?cm=var&var=hg19,X,15790708,A,G&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF25,hmmpanther:PTHR18952,PROSITE_patterns:PS00162,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		T/A		G	medium	566/6050		getma.org/?cm=msa&ty=f&p=CAH5B_HUMAN&rb=39&re=296&var=T144A	tolerated(0.11)	C9JA11_HUMAN,C9IZP3_HUMAN			YES	CA5B,missense_variant,p.Thr144Ala,ENST00000318636,NM_007220.3;CA5B,missense_variant,p.Thr144Ala,ENST00000454127,;CA5B,downstream_gene_variant,,ENST00000479740,;CA5B,downstream_gene_variant,,ENST00000478341,;CA5B,upstream_gene_variant,,ENST00000496188,;							MODERATE	430/954	T144A	CAH5B_HUMAN			Transcript		benign(0.063)	.	ENSP00000314099		CCDS14171.1			1	
ANKRD60	0	LGGM	GRCh37	20	56798142	56798142	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	46	31	.	.	ENST00000457363.1:c.527T>A	p.Leu176His	p.L176H	ENST00000457363		176	cTt/cAt	0	1	1	UPI00015B3C70	0	NA	ENST00000457363		ENSG00000124227	16217		77	3.41		HGNC	p.L176H		ANKRD60		SNV							ENST00000457363	protein_coding	getma.org/?cm=var&var=hg19,20,56798142,A,T&fts=all		hmmpanther:PTHR22677,Superfamily_domains:SSF48403		L/H		T	medium	527/1038		getma.org/?cm=msa&ty=f&p=ANR60_HUMAN&rb=176&re=283&var=L176H	deleterious(0)				YES	ANKRD60,missense_variant,p.Leu176His,ENST00000457363,;ANKRD60,missense_variant,p.Leu172His,ENST00000371167,;							MODERATE	527/1038	L176H	ANR60_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000396747					1	
ADAM29	0	LGGM	GRCh37	4	175898456	175898456	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	13	33	.	.	ENST00000359240.3:c.1780G>A	p.Asp594Asn	p.D594N	ENST00000359240	NM_014269.4	594	Gat/Aat	0	1	1	UPI000013E9DE	0	NA	ENST00000359240		ENSG00000168594	207		46	3.525		HGNC	p.D594N		ADAM29		SNV							ENST00000514159	protein_coding	getma.org/?cm=var&var=hg19,4,175898456,G,A&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Pfam_domain:PF08516,SMART_domains:SM00608		D/N		A	high	2450/3325		getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=483&re=598&var=D594N	deleterious(0)	D6RHU0_HUMAN,D6RBU0_HUMAN			YES	ADAM29,missense_variant,p.Asp594Asn,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Asp594Asn,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Asp594Asn,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Asp594Asn,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,;							MODERATE	1780/2463	D594N	ADA29_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000352177		CCDS3823.1			1	
PARP9	0	LGGM	GRCh37	3	122277214	122277214	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	21	34	.	.	ENST00000360356.2:c.116A>T	p.Lys39Met	p.K39M	ENST00000360356	NM_001146102.1	39	aAg/aTg	0	1	1	UPI000013D133	0	NA	ENST00000360356		ENSG00000138496	24118		55	0		HGNC	p.K39M		PARP9		SNV							ENST00000360356	protein_coding	getma.org/?cm=var&var=hg19,3,122277214,T,A&fts=all		hmmpanther:PTHR14453:SF11,hmmpanther:PTHR14453		K/M		A	neutral	344/3198		getma.org/?cm=msa&ty=f&p=PARP9_HUMAN&rb=1&re=51&var=K39M	deleterious(0)	Q658Y0_HUMAN			YES	PARP9,missense_variant,p.Lys39Met,ENST00000360356,NM_001146102.1,NM_031458.2;PARP9,missense_variant,p.Lys17Met,ENST00000466126,;PARP9,intron_variant,,ENST00000462315,NM_001146106.1;PARP9,intron_variant,,ENST00000477522,NM_001146103.1,NM_001146105.1;PARP9,intron_variant,,ENST00000471785,NM_001146104.1;PARP9,intron_variant,,ENST00000492382,;							MODERATE	116/2565	K39M	PARP9_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000353512		CCDS3014.1			1	
ABCB4	0	LGGM	GRCh37	7	87060738	87060738	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	42	35	.	.	ENST00000265723.4:c.1875C>A	p.Phe625Leu	p.F625L	ENST00000265723	NM_000443.3	625	ttC/ttA	0	1	1	UPI000013D66B	0	getma.org/pdb.php?prot=MDR3_HUMAN&from=394&to=630&var=F625L	ENST00000265723		ENSG00000005471	45		77	-0.255		HGNC	p.F625L		ABCB4		SNV			1				ENST00000265723	protein_coding	getma.org/?cm=var&var=hg19,7,87060738,G,T&fts=all		PROSITE_profiles:PS50893,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		F/L		T	neutral	1987/4020		getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=394&re=630&var=F625L	deleterious(0.03)	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN			YES	ABCB4,missense_variant,p.Phe625Leu,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Phe625Leu,ENST00000359206,;ABCB4,missense_variant,p.Phe625Leu,ENST00000545634,;ABCB4,missense_variant,p.Phe625Leu,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Phe625Leu,ENST00000453593,;ABCB4,non_coding_transcript_exon_variant,,ENST00000469770,;							MODERATE	1875/3861	F625L	MDR3_HUMAN			Transcript		benign(0.04)	.	ENSP00000265723		CCDS5606.1			1	
TENM4	0	LGGM	GRCh37	11	78440690	78440690	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	47	36	.	.	ENST00000278550.7:c.3139-2A>G		p.X1047_splice	ENST00000278550	NM_001098816.2			0	1	1	UPI0000DD8112	0		ENST00000278550		ENSG00000149256	29945		83			HGNC	-		TENM4		SNV							ENST00000278550	protein_coding							C		-/14000				G3CAT1_HUMAN			YES	TENM4,splice_acceptor_variant,,ENST00000278550,NM_001098816.2;							HIGH	3139/8310		TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
HSP90AA1	0	LGGM	GRCh37	14	102548138	102548138	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	50	36	.	.	ENST00000334701.7:c.2476A>G	p.Thr826Ala	p.T826A	ENST00000334701	NM_001017963.2	826	Act/Gct	0	1		UPI0000163B5F	0	NA	ENST00000216281		ENSG00000080824	5253		86	-0.48		HGNC	p.T704A		HSP90AA1		SNV							ENST00000216281	protein_coding	getma.org/?cm=var&var=hg19,14,102548138,T,C&fts=all		hmmpanther:PTHR11528,Pfam_domain:PF00183,PIRSF_domain:PIRSF002583		T/A		C	neutral	2316/3379		getma.org/?cm=msa&ty=f&p=HS90A_HUMAN&rb=196&re=732&var=T704A	tolerated(1)	Q96HX7_HUMAN,Q8TBA7_HUMAN,K9JA46_HUMAN				HSP90AA1,missense_variant,p.Thr826Ala,ENST00000334701,NM_001017963.2;HSP90AA1,missense_variant,p.Thr704Ala,ENST00000216281,NM_005348.3;HSP90AA1,downstream_gene_variant,,ENST00000441629,;HSP90AA1,downstream_gene_variant,,ENST00000553585,;RN7SL472P,upstream_gene_variant,,ENST00000492799,;HSP90AA1,downstream_gene_variant,,ENST00000554401,;HSP90AA1,downstream_gene_variant,,ENST00000557089,;HSP90AA1,downstream_gene_variant,,ENST00000557234,;HSP90AA1,downstream_gene_variant,,ENST00000556554,;HSP90AA1,downstream_gene_variant,,ENST00000560130,;HSP90AA1,downstream_gene_variant,,ENST00000555662,;							MODERATE	2110/2199	T704A	HS90A_HUMAN			Transcript		unknown(0)	.	ENSP00000216281		CCDS9967.1			1	
DMXL2	0	LGGM	GRCh37	15	51773556	51773556	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	68	39	.	.	ENST00000543779.2:c.5747C>G	p.Ala1916Gly	p.A1916G	ENST00000543779		1916	gCc/gGc	0	1		UPI000013CCDD	0	NA	ENST00000251076		ENSG00000104093	2938		107	0.895		HGNC	p.A1280G		DMXL2		SNV							ENST00000449909	protein_coding	getma.org/?cm=var&var=hg19,15,51773556,G,C&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11		A/G		C	low	6035/10672		getma.org/?cm=msa&ty=f&p=DMXL2_HUMAN&rb=1905&re=2104&var=A1916G	tolerated(0.39)					DMXL2,missense_variant,p.Ala1916Gly,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,missense_variant,p.Ala1916Gly,ENST00000543779,;DMXL2,missense_variant,p.Ala1280Gly,ENST00000449909,NM_001174117.1;DMXL2,missense_variant,p.Ala41Gly,ENST00000560891,;RP11-707P17.1,intron_variant,,ENST00000561007,;							MODERATE	5747/9111	A1916G	DMXL2_HUMAN			Transcript		benign(0.001)	.	ENSP00000251076		CCDS10141.1			1	
BOC	0	LGGM	GRCh37	3	113005550	113005550	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	49	39	.	.	ENST00000495514.1:c.3186A>G	p.Pro1062=	p.P1062=	ENST00000495514		1062	ccA/ccG	0	1		UPI0000072E0E	0		ENST00000355385		ENSG00000144857	17173		88			HGNC	p.P1062P		BOC		SNV							ENST00000355385	protein_coding			hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11		P		G		3525/4278				C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,missense_variant,p.Ser39Gly,ENST00000473008,;BOC,synonymous_variant,p.=,ENST00000495514,;BOC,synonymous_variant,p.=,ENST00000355385,NM_033254.2;BOC,synonymous_variant,p.=,ENST00000273395,;WDR52,downstream_gene_variant,,ENST00000393845,NM_001164496.1;WDR52,downstream_gene_variant,,ENST00000465636,;WDR52,downstream_gene_variant,,ENST00000308346,;BOC,3_prime_UTR_variant,,ENST00000488486,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;WDR52,downstream_gene_variant,,ENST00000489244,;WDR52,downstream_gene_variant,,ENST00000461734,;WDR52,downstream_gene_variant,,ENST00000484923,;							LOW	3186/3345		BOC_HUMAN			Transcript			.	ENSP00000347546		CCDS2971.1			1	
C1orf131	0	LGGM	GRCh37	1	231376862	231376862	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	18	40	.	.	ENST00000366649.2:c.26C>T	p.Pro9Leu	p.P9L	ENST00000366649		9	cCc/cTc	0	1	1	UPI000013E1F8	0	NA	ENST00000366649		ENSG00000143633	25332		58	1.1		HGNC	p.P9L		C1orf131		SNV							ENST00000318906	protein_coding	getma.org/?cm=var&var=hg19,1,231376862,G,A&fts=all				P/L		A	low	52/1424		getma.org/?cm=msa&ty=f&p=CA131_HUMAN&rb=1&re=292&var=P9L	deleterious_low_confidence(0.02)	Q5TBH9_HUMAN			YES	C1orf131,missense_variant,p.Pro9Leu,ENST00000318906,;C1orf131,missense_variant,p.Pro9Leu,ENST00000366651,NM_152379.2;C1orf131,missense_variant,p.Pro9Leu,ENST00000366649,;GNPAT,upstream_gene_variant,,ENST00000366647,NM_014236.3;GNPAT,upstream_gene_variant,,ENST00000366646,;GNPAT,upstream_gene_variant,,ENST00000416000,;GNPAT,upstream_gene_variant,,ENST00000436239,;C1orf131,upstream_gene_variant,,ENST00000451322,;C1orf131,non_coding_transcript_exon_variant,,ENST00000471936,;C1orf131,upstream_gene_variant,,ENST00000486384,;							MODERATE	26/882	P9L	CA131_HUMAN			Transcript		benign(0.121)	.	ENSP00000355609		CCDS1591.2			1	
DLC1	0	LGGM	GRCh37	8	13357079	13357079	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	58	40	.	.	ENST00000276297.4:c.502G>A	p.Gly168Ser	p.G168S	ENST00000276297	NM_182643.2	168	Ggt/Agt	0	1	1	UPI0000210275	0	NA	ENST00000276297		ENSG00000164741	2897		98	1.65		HGNC	p.G168S		DLC1		SNV							ENST00000511869	protein_coding	getma.org/?cm=var&var=hg19,8,13357079,C,T&fts=all				G/S		T	low	912/7447		getma.org/?cm=msa&ty=f&p=RHG07_HUMAN&rb=1&re=447&var=G168S	tolerated_low_confidence(0.43)				YES	DLC1,missense_variant,p.Gly168Ser,ENST00000276297,NM_182643.2;DLC1,missense_variant,p.Gly168Ser,ENST00000511869,NM_024767.3;DLC1,missense_variant,p.Gly168Ser,ENST00000316609,;DLC1,upstream_gene_variant,,ENST00000517868,;DLC1,downstream_gene_variant,,ENST00000517333,;							MODERATE	502/4587	G168S	RHG07_HUMAN			Transcript		benign(0.004)	.	ENSP00000276297		CCDS5989.1			1	
ZNF438	0	LGGM	GRCh37	10	31134379	31134379	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	40	41	.	.	ENST00000436087.2:c.1998A>T	p.Leu666Phe	p.L666F	ENST00000436087	NM_001143766.1	666	ttA/ttT	0	1		UPI00001B3D8F	0	NA	ENST00000361310		ENSG00000183621	21029		81	2.215		HGNC	p.L666F		ZNF438		SNV							ENST00000442986	protein_coding	getma.org/?cm=var&var=hg19,10,31134379,T,A&fts=all		hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF2,SMART_domains:SM00355		L/F		A	medium	2328/3144		getma.org/?cm=msa&ty=f&p=ZN438_HUMAN&rb=579&re=778&var=L666F	deleterious(0)	Q5T427_HUMAN				ZNF438,missense_variant,p.Leu656Phe,ENST00000452305,NM_001143770.1;ZNF438,missense_variant,p.Leu666Phe,ENST00000436087,NM_001143766.1;ZNF438,missense_variant,p.Leu617Phe,ENST00000538351,NM_001143769.1;ZNF438,missense_variant,p.Leu666Phe,ENST00000442986,NM_182755.2,NM_001143768.1;ZNF438,missense_variant,p.Leu656Phe,ENST00000331737,NM_001143771.1;ZNF438,missense_variant,p.Leu666Phe,ENST00000361310,;ZNF438,missense_variant,p.Leu666Phe,ENST00000413025,NM_001143767.1;ZNF438,missense_variant,p.Leu656Phe,ENST00000444692,;ZNF438,missense_variant,p.Leu230Phe,ENST00000375311,;ZNF438,intron_variant,,ENST00000609683,;							MODERATE	1998/2487	L666F	ZN438_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354663		CCDS7168.1			1	
PPP1R9A	0	LGGM	GRCh37	7	94913424	94913424	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	62	45	.	.	ENST00000433360.1:c.3391A>T	p.Asn1131Tyr	p.N1131Y	ENST00000433360	NM_001166160.1	1131	Aat/Tat	0	1		UPI00003BF75D	0	NA	ENST00000340694		ENSG00000158528	14946		107	0		HGNC	p.N1131Y		PPP1R9A		SNV							ENST00000433360	protein_coding	getma.org/?cm=var&var=hg19,7,94913424,A,T&fts=all						T	neutral	-/9689		getma.org/?cm=msa&ty=f&p=B2RWQ1_HUMAN&rb=711&re=1249&var=N1131Y		C9J730_HUMAN,C9J3G5_HUMAN,B7ZLX4_HUMAN				PPP1R9A,missense_variant,p.Asn1091Tyr,ENST00000289495,NM_001166161.1;PPP1R9A,missense_variant,p.Asn1109Tyr,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Asn1131Tyr,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Asn1109Tyr,ENST00000424654,;PPP1R9A,intron_variant,,ENST00000433881,;PPP1R9A,intron_variant,,ENST00000340694,NM_001166163.1,NM_017650.2;							MODIFIER	-/3297	N1131Y	NEB1_HUMAN			Transcript			.	ENSP00000344524		CCDS34683.1			1	
MYBL1	0	LGGM	GRCh37	8	67492467	67492467	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	113	49	.	.	ENST00000522677.3:c.1002G>T	p.Gln334His	p.Q334H	ENST00000522677	NM_001080416.2	334	caG/caT	0	1	1	UPI000012FADE	0	NA	ENST00000522677		ENSG00000185697	7547		162	1.78		HGNC	p.Q334H		MYBL1		SNV							ENST00000522677	protein_coding	getma.org/?cm=var&var=hg19,8,67492467,C,A&fts=all		hmmpanther:PTHR10641:SF153,hmmpanther:PTHR10641		Q/H		A	low	1413/5192		getma.org/?cm=msa&ty=f&p=MYBA_HUMAN&rb=287&re=485&var=Q334H	tolerated(0.08)	Q6LD85_HUMAN			YES	MYBL1,missense_variant,p.Gln334His,ENST00000522677,NM_001080416.2,NM_001144755.1;MYBL1,missense_variant,p.Gln334His,ENST00000524176,;MYBL1,intron_variant,,ENST00000517885,;							MODERATE	1002/2259	Q334H	MYBA_HUMAN			Transcript		benign(0.013)	.	ENSP00000429633		CCDS47867.1			1	
MCCC2	0	LGGM	GRCh37	5	70945996	70945996	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	53	55	.	.	ENST00000340941.6:c.1474C>T	p.Arg492Trp	p.R492W	ENST00000340941	NM_022132.4	492	Cgg/Tgg	0	1	1	UPI000012ED69	0	getma.org/pdb.php?prot=MCCB_HUMAN&from=74&to=558&var=R492W	ENST00000340941		ENSG00000131844	6937		108	3.92		HGNC	p.R264W	rs531891095	MCCC2	0.000424	SNV			1				ENST00000509539	protein_coding	getma.org/?cm=var&var=hg19,5,70945996,C,T&fts=all	T:0	PROSITE_profiles:PS50989,hmmpanther:PTHR22855,hmmpanther:PTHR22855:SF13,Pfam_domain:PF01039,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		R/W		T	high	1603/3665		getma.org/?cm=msa&ty=f&p=MCCB_HUMAN&rb=74&re=558&var=R492W	deleterious_low_confidence(0)		T:0	T:0	YES	MCCC2,missense_variant,p.Arg492Trp,ENST00000340941,NM_022132.4;MCCC2,missense_variant,p.Arg454Trp,ENST00000323375,;MCCC2,missense_variant,p.Arg264Trp,ENST00000509539,;MCCC2,3_prime_UTR_variant,,ENST00000512218,;		T:0.0002					MODERATE	1474/1692	R492W	MCCB_HUMAN		T:0	Transcript		probably_damaging(0.953)	common_variant	ENSP00000343657	5.77E-05	CCDS34184.1		T:0.001	1	
GALNT11	0	LGGM	GRCh37	7	151814291	151814291	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	66	59	.	.	ENST00000434507.1:c.1283A>C	p.Asn428Thr	p.N428T	ENST00000434507		428	aAt/aCt	0	1		UPI000004C2AA	0	getma.org/pdb.php?prot=GLT11_HUMAN&from=384&to=480&var=N428T	ENST00000430044		ENSG00000178234	19875		125	2.505		HGNC	p.N428T		GALNT11		SNV							ENST00000443352	protein_coding	getma.org/?cm=var&var=hg19,7,151814291,A,C&fts=all		hmmpanther:PTHR11675:SF10,hmmpanther:PTHR11675,Superfamily_domains:SSF53448		N/T		C	medium	1513/2720		getma.org/?cm=msa&ty=f&p=GLT11_HUMAN&rb=384&re=480&var=N428T	deleterious(0.01)	C9JMT8_HUMAN,C9J8A7_HUMAN,C9J111_HUMAN				GALNT11,missense_variant,p.Asn428Thr,ENST00000434507,;GALNT11,missense_variant,p.Asn428Thr,ENST00000430044,NM_022087.2;GALNT11,missense_variant,p.Asn428Thr,ENST00000320311,;GALNT11,missense_variant,p.Asn347Thr,ENST00000452146,;RP5-981O7.2,downstream_gene_variant,,ENST00000424630,;GALNT11,3_prime_UTR_variant,,ENST00000431940,;GALNT11,non_coding_transcript_exon_variant,,ENST00000491061,;GALNT11,downstream_gene_variant,,ENST00000447778,;							MODERATE	1283/1827	N428T	GLT11_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000395122		CCDS5930.1			1	
CCT8	0	LGGM	GRCh37	21	30434537	30434537	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104490	H104490N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	84	62	.	.	ENST00000286788.4:c.1124T>A	p.Ile375Lys	p.I375K	ENST00000286788	NM_006585.2	375	aTa/aAa	0	1	1	UPI0000136B0D	0	getma.org/pdb.php?prot=TCPQ_HUMAN&from=39&to=529&var=I375K	ENST00000286788		ENSG00000156261	1623		146	3.78		HGNC	p.I375K		CCT8		SNV							ENST00000286788	protein_coding	getma.org/?cm=var&var=hg19,21,30434537,A,T&fts=all		Prints_domain:PR00304,Superfamily_domains:SSF52029,Superfamily_domains:SSF54849,TIGRFAM_domain:TIGR02346,Pfam_domain:PF00118,Gene3D:3.30.260.10,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF60		I/K		T	high	1331/2005		getma.org/?cm=msa&ty=f&p=TCPQ_HUMAN&rb=39&re=529&var=I375K	deleterious(0)	Q7Z759_HUMAN			YES	CCT8,missense_variant,p.Ile375Lys,ENST00000286788,NM_006585.2;CCT8,missense_variant,p.Ile356Lys,ENST00000542732,NM_001282907.1;CCT8,missense_variant,p.Ile302Lys,ENST00000540844,NM_001282909.1;CCT8,missense_variant,p.Ile321Lys,ENST00000431234,;CCT8,upstream_gene_variant,,ENST00000432178,;AF129075.5,upstream_gene_variant,,ENST00000457162,;CCT8,non_coding_transcript_exon_variant,,ENST00000470450,;CCT8,non_coding_transcript_exon_variant,,ENST00000480359,;CCT8,downstream_gene_variant,,ENST00000481059,;CCT8,non_coding_transcript_exon_variant,,ENST00000496121,;CCT8,non_coding_transcript_exon_variant,,ENST00000475205,;CCT8,downstream_gene_variant,,ENST00000484403,;							MODERATE	1124/1647	I375K	TCPQ_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000286788		CCDS33528.1			1	
QARS1	0	LGGM	GRCh37	3	49139699	49139699	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H104490	H104490N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	80	68	.	.	ENST00000306125.6:c.571-1G>C		p.X191_splice	ENST00000306125	NM_001272073.1			0	1	1	UPI000013661E	0		ENST00000306125		ENSG00000172053	9751		148			HGNC	-		QARS		SNV			1				ENST00000306125	protein_coding							G		-/2763				Q9H3A5_HUMAN,Q9BUZ3_HUMAN,B4DDN1_HUMAN			YES	QARS,splice_acceptor_variant,,ENST00000306125,NM_001272073.1,NM_005051.2;QARS,splice_acceptor_variant,,ENST00000414533,;QARS,splice_acceptor_variant,,ENST00000420147,;QARS,splice_acceptor_variant,,ENST00000452739,;QARS,upstream_gene_variant,,ENST00000453392,;QARS,downstream_gene_variant,,ENST00000417025,;QARS,splice_acceptor_variant,,ENST00000470225,;QARS,splice_acceptor_variant,,ENST00000470619,;QARS,downstream_gene_variant,,ENST00000479495,;QARS,upstream_gene_variant,,ENST00000482468,;QARS,upstream_gene_variant,,ENST00000487495,;QARS,upstream_gene_variant,,ENST00000466179,;QARS,upstream_gene_variant,,ENST00000475599,;QARS,splice_acceptor_variant,,ENST00000430182,;QARS,splice_acceptor_variant,,ENST00000464962,;QARS,splice_acceptor_variant,,ENST00000494838,;QARS,splice_acceptor_variant,,ENST00000482261,;QARS,upstream_gene_variant,,ENST00000459870,;QARS,upstream_gene_variant,,ENST00000470113,;QARS,upstream_gene_variant,,ENST00000482248,;QARS,upstream_gene_variant,,ENST00000494984,;QARS,upstream_gene_variant,,ENST00000478561,;QARS,downstream_gene_variant,,ENST00000482438,;QARS,downstream_gene_variant,,ENST00000418549,;QARS,upstream_gene_variant,,ENST00000494767,;QARS,upstream_gene_variant,,ENST00000497635,;							HIGH	571/2328		SYQ_HUMAN			Transcript			.	ENSP00000307567		CCDS2788.1			1	
GABRA2	0	LGGM	GRCh37	4	46305489	46305489	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	33	77	.	.	ENST00000510861.1:c.844A>G	p.Arg282Gly	p.R282G	ENST00000510861		282	Aga/Gga	0	1		UPI000013DC88	0	getma.org/pdb.php?prot=GBRA2_HUMAN&from=257&to=354&var=R282G	ENST00000356504		ENSG00000151834	4076		110	3.96		HGNC	p.R282G		GABRA2		SNV			1				ENST00000507069	protein_coding	getma.org/?cm=var&var=hg19,4,46305489,T,C&fts=all		Gene3D:1.20.58.390,Pfam_domain:PF02932,Prints_domain:PR00253,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF218,Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Transmembrane_helices:TMhelix		R/G		C	high	1517/2770		getma.org/?cm=msa&ty=f&p=GBRA2_HUMAN&rb=257&re=354&var=R282G	deleterious(0)	Q4W5L8_HUMAN,D6RBL7_HUMAN,D6RBK9_HUMAN,D6RB77_HUMAN				GABRA2,missense_variant,p.Arg282Gly,ENST00000510861,;GABRA2,missense_variant,p.Arg282Gly,ENST00000514090,;GABRA2,missense_variant,p.Arg282Gly,ENST00000356504,NM_001114175.1;GABRA2,missense_variant,p.Arg282Gly,ENST00000381620,NM_000807.2;GABRA2,missense_variant,p.Arg282Gly,ENST00000515082,;GABRA2,missense_variant,p.Arg227Gly,ENST00000540012,NM_001286827.1;GABRA2,missense_variant,p.Arg282Gly,ENST00000507069,;GABRA2,missense_variant,p.Arg51Gly,ENST00000514236,;GABRA2,3_prime_UTR_variant,,ENST00000510233,;GABRA2,intron_variant,,ENST00000513005,;GABRA2,downstream_gene_variant,,ENST00000514193,;							MODERATE	844/1356	R282G	GBRA2_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000348897		CCDS3471.1			1	
MUC16	0	LGGM	GRCh37	19	9008247	9008247	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104490	H104490N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	101	81	.	.	ENST00000397910.4:c.39305A>T	p.Gln13102Leu	p.Q13102L	ENST00000397910	NM_024690.2	13102	cAg/cTg	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13010&to=13120&var=E13104L	ENST00000397910		ENSG00000181143	15582		182	2.965		HGNC	p.Q13102L		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9008247,T,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		Q/L		A	medium	39509/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13010&re=13120&var=E13104L		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Gln13102Leu,ENST00000397910,NM_024690.2;MUC16,upstream_gene_variant,,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000380951,;MUC16,upstream_gene_variant,,ENST00000601404,;							MODERATE	39305/43524	E13104L				Transcript		possibly_damaging(0.468)	.	ENSP00000381008		CCDS54212.1			1	
CCDC150	0	LGGM	GRCh37	2	197597250	197597250	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104490	H104490N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104490N.bam, H104490T.bam	Illumina HiSeq	81	92	.	.	ENST00000389175.4:c.3270G>A	p.Met1090Ile	p.M1090I	ENST00000389175	NM_001080539.1	1090	atG/atA	0	1	1	UPI0000DD7A7C	0	NA	ENST00000389175		ENSG00000144395	26834		173	0.55		HGNC	p.M1090I		CCDC150		SNV							ENST00000389175	protein_coding	getma.org/?cm=var&var=hg19,2,197597250,G,A&fts=all				M/I		A	neutral	3405/3685		getma.org/?cm=msa&ty=f&p=CC150_HUMAN&rb=151&re=1099&var=M1090I	tolerated(0.81)				YES	CCDC150,missense_variant,p.Met1090Ile,ENST00000389175,NM_001080539.1;CCDC150,missense_variant,p.Met737Ile,ENST00000272831,;CCDC150,missense_variant,p.Met577Ile,ENST00000409270,;CCDC150,non_coding_transcript_exon_variant,,ENST00000483877,;CCDC150,intron_variant,,ENST00000461243,;CCDC150,downstream_gene_variant,,ENST00000487663,;CCDC150,downstream_gene_variant,,ENST00000494389,;CCDC150,3_prime_UTR_variant,,ENST00000431807,;CCDC150,3_prime_UTR_variant,,ENST00000424427,;CCDC150,3_prime_UTR_variant,,ENST00000448409,;CCDC150,downstream_gene_variant,,ENST00000463826,;							MODERATE	3270/3306	M1090I	CC150_HUMAN			Transcript		benign(0.001)	.	ENSP00000373827		CCDS46478.1			1	
NPIPB5	0	LGGM	GRCh37	16	22545666	22545684	+	frameshift_variant	Frame_Shift_Del	DEL	TGAGCGTCTGCGGGGGCCG	TGAGCGTCTGCGGGGGCCG	-	novel	by Submitter	H104529	H104529N.bam	TGAGCGTCTGCGGGGGCCG	TGAGCGTCTGCGGGGGCCG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	4	2	.	.	ENST00000424340.1:c.1362_1380del	p.Glu455PhefsTer122	p.E455Ffs*122	ENST00000424340	NM_001135865.1	454	gcTGAGCGTCTGCGGGGGCCG/gc	0	1	1	UPI000181EF82	0		ENST00000424340		ENSG00000243716	37233		6			HGNC	p.454_460del	TMP_ESP_16_22545666_22545684	NPIPB5		deletion	-:0.2062						ENST00000424340	protein_coding			hmmpanther:PTHR15438,hmmpanther:PTHR15438:SF1		AERLRGP/X	-:0.0136	-		1641-1659/3801				U3KRG3_HUMAN,F6SDX0_HUMAN,H3BQU5_HUMAN,F5H8A1_HUMAN,F5H6Y6_HUMAN,F5H5F2_HUMAN,F5H4N5_HUMAN,F5H3W2_HUMAN,F5GYP3_HUMAN,F5GWQ4_HUMAN,E9PKP1_HUMAN,B4DEI0_HUMAN			YES	NPIPB5,frameshift_variant,p.Glu455PhefsTer122,ENST00000424340,NM_001135865.1;NPIPB5,frameshift_variant,p.Glu455PhefsTer122,ENST00000517539,;NPIPB5,frameshift_variant,p.Glu455PhefsTer122,ENST00000415833,;NPIPB5,frameshift_variant,p.Glu455PhefsTer122,ENST00000528249,;NPIPB5,non_coding_transcript_exon_variant,,ENST00000415654,;NPIPB5,3_prime_UTR_variant,,ENST00000521555,;NPIPB5,downstream_gene_variant,,ENST00000541664,;NPIPB5,downstream_gene_variant,,ENST00000442450,;NPIPB5,downstream_gene_variant,,ENST00000539604,;NPIPB5,downstream_gene_variant,,ENST00000543997,;							HIGH	1362-1380/3402		NPIB5_HUMAN			Transcript			.	ENSP00000440703		CCDS45443.1			1	
PTK2B	0	LGGM	GRCh37	8	27312128	27312128	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	8	2	.	.	ENST00000397501.1:c.2814G>A	p.Glu938=	p.E938=	ENST00000397501	NM_173174.2	938	gaG/gaA	0	1		UPI000000D9EC	0		ENST00000346049		ENSG00000120899	9612		10			HGNC	p.E896E		PTK2B		SNV							ENST00000338238	protein_coding			Gene3D:1.20.120.330,Pfam_domain:PF03623,Superfamily_domains:SSF68993		E		A		3054/4147				E5RK84_HUMAN,E5RJ77_HUMAN,E5RHL2_HUMAN,C9JHV9_HUMAN				PTK2B,splice_region_variant,p.=,ENST00000397501,NM_173174.2;PTK2B,splice_region_variant,p.=,ENST00000338238,;PTK2B,splice_region_variant,p.=,ENST00000544172,;PTK2B,splice_region_variant,p.=,ENST00000346049,NM_173176.2,NM_004103.4;PTK2B,splice_region_variant,p.=,ENST00000420218,NM_173175.2;PTK2B,splice_region_variant,p.=,ENST00000517339,;PTK2B,downstream_gene_variant,,ENST00000397497,;PTK2B,splice_region_variant,,ENST00000522245,;PTK2B,downstream_gene_variant,,ENST00000482543,;							LOW	2814/3030		FAK2_HUMAN			Transcript			.	ENSP00000332816		CCDS6057.1			1	
GTF2H3	0	LGGM	GRCh37	12	124144131	124144131	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	5	2	.	.	ENST00000543341.2:c.684G>T	p.Leu228=	p.L228=	ENST00000543341	NM_001271868.1	228	ctG/ctT	0	1	1	UPI00000622FE	0		ENST00000543341		ENSG00000111358	4657		7			HGNC	p.L185L		GTF2H3		SNV							ENST00000536375	protein_coding			Pfam_domain:PF03850,hmmpanther:PTHR12831,hmmpanther:PTHR12831:SF0,TIGRFAM_domain:TIGR00627		L		T		715/3329				B4DNZ6_HUMAN			YES	GTF2H3,splice_region_variant,p.=,ENST00000543341,NM_001271868.1,NM_001516.4;GTF2H3,splice_region_variant,p.=,ENST00000228955,NM_001271867.1;GTF2H3,splice_region_variant,p.=,ENST00000536375,NM_001271866.1;GTF2H3,splice_region_variant,p.=,ENST00000543154,;GTF2H3,intron_variant,,ENST00000538533,;GTF2H3,downstream_gene_variant,,ENST00000538845,;GTF2H3,downstream_gene_variant,,ENST00000539994,;GTF2H3,splice_region_variant,,ENST00000539429,;GTF2H3,3_prime_UTR_variant,,ENST00000542279,;GTF2H3,intron_variant,,ENST00000543415,;GTF2H3,downstream_gene_variant,,ENST00000537695,;							LOW	684/927		TF2H3_HUMAN			Transcript			.	ENSP00000445162		CCDS9252.1			1	
CELSR2	0	LGGM	GRCh37	1	109792926	109792926	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	13	2	.	.	ENST00000271332.3:c.225G>T	p.Ala75=	p.A75=	ENST00000271332	NM_001408.2	75	gcG/gcT	0	1	1	UPI00000015B6	0		ENST00000271332		ENSG00000143126	3231		15			HGNC	p.A75A		CELSR2		SNV							ENST00000271332	protein_coding			hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF32		A		T		286/10534							YES	CELSR2,synonymous_variant,p.=,ENST00000271332,NM_001408.2;							LOW	225/8772		CELR2_HUMAN			Transcript			.	ENSP00000271332		CCDS796.1			1	
REG3G	0	LGGM	GRCh37	2	79255346	79255346	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	21	4	.	.	ENST00000272324.5:c.472T>A	p.Trp158Arg	p.W158R	ENST00000272324	NM_001008387.2	158	Tgg/Agg	0	1	1	UPI0000048F1E	0	getma.org/pdb.php?prot=REG3G_HUMAN&from=57&to=173&var=W158R	ENST00000272324		ENSG00000143954	29595		25	4.135		HGNC	p.W112R		REG3G		SNV							ENST00000409471	protein_coding	getma.org/?cm=var&var=hg19,2,79255346,T,A&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22801,hmmpanther:PTHR22801:SF29,PROSITE_patterns:PS00615,Gene3D:3.10.100.10,Pfam_domain:PF00059,SMART_domains:SM00034,Superfamily_domains:SSF56436,Prints_domain:PR01504		W/R		A	high	656/938		getma.org/?cm=msa&ty=f&p=REG3G_HUMAN&rb=57&re=173&var=W158R	deleterious(0)				YES	REG3G,missense_variant,p.Trp158Arg,ENST00000272324,NM_001008387.2;REG3G,missense_variant,p.Trp158Arg,ENST00000393897,NM_198448.3;REG3G,missense_variant,p.Trp112Arg,ENST00000409471,NM_001270040.1;REG3G,downstream_gene_variant,,ENST00000490944,;REG3G,downstream_gene_variant,,ENST00000498312,;							MODERATE	472/528	W158R	REG3G_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000272324		CCDS1962.1			1	
ZNF502	0	LGGM	GRCh37	3	44763568	44763568	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	28	4	.	.	ENST00000296091.4:c.1259T>C	p.Ile420Thr	p.I420T	ENST00000296091	NM_001134440.1	420	aTt/aCt	0	1	1	UPI0000072CFB	0	getma.org/pdb.php?prot=ZN502_HUMAN&from=419&to=421&var=I420T	ENST00000296091		ENSG00000196653	23718		32	-0.985		HGNC	p.I420T		ZNF502		SNV							ENST00000449836	protein_coding	getma.org/?cm=var&var=hg19,3,44763568,T,C&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667		I/T		C	neutral	1515/3270		getma.org/?cm=msa&ty=f&p=ZN502_HUMAN&rb=389&re=451&var=I420T	tolerated(0.86)	C9JLT3_HUMAN			YES	ZNF502,missense_variant,p.Ile420Thr,ENST00000296091,NM_001134440.1,NM_033210.4,NM_001282880.1;ZNF502,missense_variant,p.Ile420Thr,ENST00000449836,NM_001134441.1,NM_001134442.1;ZNF502,missense_variant,p.Ile420Thr,ENST00000436624,;ZNF502,downstream_gene_variant,,ENST00000411443,;							MODERATE	1259/1635	I420T	ZN502_HUMAN			Transcript		benign(0.391)	.	ENSP00000296091		CCDS2719.1			1	
WDFY4	0	LGGM	GRCh37	10	49935651	49935651	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	19	4	.	.	ENST00000325239.5:c.918C>T	p.Phe306=	p.F306=	ENST00000325239	NM_020945.1	306	ttC/ttT	0	1	1	UPI000176ADB8	0		ENST00000325239		ENSG00000128815	29323		23			HGNC	p.F306F		WDFY4		SNV							ENST00000325239	protein_coding			hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		F		T		945/9962				Q6PIM1_HUMAN			YES	WDFY4,synonymous_variant,p.=,ENST00000325239,NM_020945.1;WDFY4,synonymous_variant,p.=,ENST00000413659,;WDFY4,synonymous_variant,p.=,ENST00000360890,;							LOW	918/9555		WDFY4_HUMAN			Transcript			.	ENSP00000320563		CCDS44385.1			1	
FAM90A1	0	LGGM	GRCh37	12	8375152	8375152	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	91	5	.	.	ENST00000538603.1:c.661G>A	p.Glu221Lys	p.E221K	ENST00000538603	NM_018088.3	221	Gag/Aag	0	1		UPI000013EC10	0	NA	ENST00000307435		ENSG00000171847	25526	0.000173	96	0		HGNC	p.E221K	rs200554143,COSM943982	FAM90A1		SNV	G:0.0005					0,1	ENST00000307435	protein_coding	getma.org/?cm=var&var=hg19,12,8375152,C,T&fts=all	G:0.0008	hmmpanther:PTHR16035,hmmpanther:PTHR16035:SF8		E/K	G:0	T	neutral	1046/2342		getma.org/?cm=msa&ty=f&p=F90A1_HUMAN&rb=1&re=463&var=E221K	tolerated(0.12)		G:0	G:0		FAM90A1,missense_variant,p.Glu221Lys,ENST00000538603,NM_018088.3;FAM90A1,missense_variant,p.Glu221Lys,ENST00000307435,;FAM90A1,downstream_gene_variant,,ENST00000442295,;RP11-266K4.1,upstream_gene_variant,,ENST00000542600,;					0,1		MODERATE	661/1395	E221K	F90A1_HUMAN		G:0	Transcript		benign(0.004)	.	ENSP00000307798	1.65E-05	CCDS31738.1		G:0	1	
NLRP3	0	LGGM	GRCh37	1	247588478	247588478	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	69	5	.	.	ENST00000336119.3:c.1733G>A	p.Arg578His	p.R578H	ENST00000336119	NM_001127462.2	578	cGt/cAt	0	1	1	UPI00001CE3AD	0	NA	ENST00000336119		ENSG00000162711	16400		74	1.805		HGNC	p.R578H		NLRP3		SNV			1				ENST00000391827	protein_coding	getma.org/?cm=var&var=hg19,1,247588478,G,A&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4		R/H		A	low	2479/4170		getma.org/?cm=msa&ty=f&p=NALP3_HUMAN&rb=390&re=589&var=R578H	tolerated(0.1)	Q65Z67_HUMAN,B7ZKS9_HUMAN			YES	NLRP3,missense_variant,p.Arg578His,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Arg578His,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Arg578His,ENST00000366496,;NLRP3,missense_variant,p.Arg578His,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Arg578His,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Arg578His,ENST00000391827,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;							MODERATE	1733/3111	R578H	NALP3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337383		CCDS1632.1			1	
MYH6	0	LGGM	GRCh37	14	23852437	23852437	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	10	5	.	.	ENST00000405093.3:c.5658G>C	p.Glu1886Asp	p.E1886D	ENST00000405093	NM_002471.3	1886	gaG/gaC	0	1		UPI0000160969	0	NA	ENST00000356287		ENSG00000197616	7576		15	2.415		HGNC	p.E1886D		MYH6		SNV			1				ENST00000356287	protein_coding	getma.org/?cm=var&var=hg19,14,23852437,C,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260,Low_complexity_(Seg):seg,Superfamily_domains:SSF57997		E/D		G	medium	5688/5871		getma.org/?cm=msa&ty=f&p=MYH6_HUMAN&rb=1070&re=1928&var=E1886D	tolerated(0.07)	Q9UQV1_HUMAN,A8CLL2_HUMAN				MYH6,missense_variant,p.Glu1886Asp,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Glu1886Asp,ENST00000356287,;CMTM5,downstream_gene_variant,,ENST00000359320,NM_138460.2;CMTM5,downstream_gene_variant,,ENST00000339180,NM_001288746.1;CMTM5,downstream_gene_variant,,ENST00000555731,;CMTM5,downstream_gene_variant,,ENST00000397227,NM_001288744.1;CMTM5,downstream_gene_variant,,ENST00000342473,NM_001288745.1;CMTM5,downstream_gene_variant,,ENST00000382809,NM_001037288.1;CMTM5,downstream_gene_variant,,ENST00000553750,;CMTM5,downstream_gene_variant,,ENST00000555487,;							MODERATE	5658/5820	E1886D	MYH6_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000348634		CCDS9600.1			1	
GRK5	0	LGGM	GRCh37	10	121196183	121196183	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	14	5	.	.	ENST00000392870.2:c.759C>T	p.Tyr253=	p.Y253=	ENST00000392870	NM_005308.2	253	taC/taT	0	1	1	UPI0000049BF9	0		ENST00000392870		ENSG00000198873	4544	8.70E-05	19			HGNC	p.Y253Y	rs534305178	GRK5	6.10E-05	SNV							ENST00000392870	protein_coding		T:0	Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24355,hmmpanther:PTHR24355:SF25,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y		T		1088/2654	1.50E-05			Q24JT8_HUMAN,G8JLE8_HUMAN	T:0	T:0.001	YES	GRK5,synonymous_variant,p.=,ENST00000392870,NM_005308.2;GRK5,synonymous_variant,p.=,ENST00000369108,;	0.000925	T:0.0002					LOW	759/1773		GRK5_HUMAN		T:0	Transcript			common_variant	ENSP00000376609	9.06E-05	CCDS7612.1		T:0	1	
WDR81	0	LGGM	GRCh37	17	1640674	1640674	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	0	6	.	.	ENST00000409644.1:c.5521G>A	p.Val1841Ile	p.V1841I	ENST00000409644	NM_001163809.1	1841	Gtc/Atc	0	1	1	UPI0001881A85	0	NA	ENST00000409644		ENSG00000167716	26600		6	0.415		HGNC	p.V480I	rs778468104	WDR81		SNV			1				ENST00000446363	protein_coding	getma.org/?cm=var&var=hg19,17,1640674,G,A&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314,PROSITE_profiles:PS50294		V/I		A	neutral	5521/6733	0.00011	getma.org/?cm=msa&ty=f&p=WDR81_HUMAN&rb=734&re=804&var=V790I	tolerated(0.43)	E9PDG3_HUMAN,C9JD20_HUMAN			YES	WDR81,missense_variant,p.Val1841Ile,ENST00000409644,NM_001163809.1;WDR81,missense_variant,p.Val790Ile,ENST00000309182,NM_152348.3;WDR81,missense_variant,p.Val614Ile,ENST00000419248,NM_001163811.1;WDR81,missense_variant,p.Val638Ile,ENST00000437219,NM_001163673.1;WDR81,missense_variant,p.Val480Ile,ENST00000446363,;WDR81,missense_variant,p.Val472Ile,ENST00000545662,;WDR81,downstream_gene_variant,,ENST00000418841,;WDR81,downstream_gene_variant,,ENST00000468539,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,downstream_gene_variant,,ENST00000474958,;WDR81,downstream_gene_variant,,ENST00000495411,;							MODERATE	5521/5826	V790I	WDR81_HUMAN			Transcript		benign(0.002)	.	ENSP00000386609	5.79E-05	CCDS54062.1			1	
ZNF398	0	LGGM	GRCh37	7	148876484	148876484	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	26	7	.	.	ENST00000475153.1:c.1520G>A	p.Gly507Asp	p.G507D	ENST00000475153		507	gGc/gAc	0	1	1	UPI000000DA2F	0	getma.org/pdb.php?prot=ZN398_HUMAN&from=497&to=520&var=G507D	ENST00000475153		ENSG00000197024	18373		33	1.96		HGNC	p.G512D		ZNF398		SNV							ENST00000540950	protein_coding	getma.org/?cm=var&var=hg19,7,148876484,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF9,Superfamily_domains:SSF57667		G/D		A	medium	1787/2860		getma.org/?cm=msa&ty=f&p=ZN398_HUMAN&rb=477&re=540&var=G507D	deleterious(0.01)				YES	ZNF398,missense_variant,p.Gly336Asp,ENST00000420008,NM_170686.2;ZNF398,missense_variant,p.Gly336Asp,ENST00000426851,NM_020781.3;ZNF398,missense_variant,p.Gly336Asp,ENST00000335901,;ZNF398,missense_variant,p.Gly507Asp,ENST00000475153,;ZNF398,missense_variant,p.Gly336Asp,ENST00000491174,;ZNF398,missense_variant,p.Gly512Asp,ENST00000540950,;ZNF398,missense_variant,p.Gly336Asp,ENST00000483892,;							MODERATE	1520/1929	G507D	ZN398_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000420418		CCDS5894.1			1	
ANKRD17	0	LGGM	GRCh37	4	74021820	74021820	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	21	7	.	.	ENST00000358602.4:c.768A>T	p.Glu256Asp	p.E256D	ENST00000358602	NM_032217.3	256	gaA/gaT	0	1	1	UPI00002263B0	0	getma.org/pdb.php?prot=ANR17_HUMAN&from=120&to=294&var=E256D	ENST00000358602		ENSG00000132466	23575		28	1.08		HGNC	p.E256D		ANKRD17		SNV							ENST00000358602	protein_coding	getma.org/?cm=var&var=hg19,4,74021820,T,A&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		E/D		A	low	885/10784		getma.org/?cm=msa&ty=f&p=ANR17_HUMAN&rb=120&re=294&var=E256D					YES	ANKRD17,missense_variant,p.Glu256Asp,ENST00000358602,NM_032217.3;ANKRD17,missense_variant,p.Glu141Asp,ENST00000558247,;ANKRD17,missense_variant,p.Glu143Asp,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Glu256Asp,ENST00000330838,NM_198889.1;ANKRD17,intron_variant,,ENST00000561029,;ANKRD17,upstream_gene_variant,,ENST00000514252,;ANKRD17,missense_variant,p.Glu74Asp,ENST00000560372,;							MODERATE	768/7812	E256D	ANR17_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000351416		CCDS34004.1			1	
PCDHGA4	0	LGGM	GRCh37	5	140735315	140735315	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	16	7	.	.	ENST00000571252.1:c.548A>G	p.Gln183Arg	p.Q183R	ENST00000571252	NM_018917.2	183	cAa/cGa	0	1	1	UPI0000070861	0	NA	ENST00000571252		ENSG00000262576	8702		23	0.435		HGNC	p.Q183R		PCDHGA4		SNV							ENST00000571252	protein_coding	getma.org/?cm=var&var=hg19,5,140735315,A,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF94,SMART_domains:SM00112,Superfamily_domains:SSF49313		Q/R		G	neutral	548/4602		getma.org/?cm=msa&ty=f&p=PCDG4_HUMAN&rb=138&re=233&var=Q183R	tolerated_low_confidence(0.27)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA4,missense_variant,p.Gln183Arg,ENST00000571252,NM_018917.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB2,upstream_gene_variant,,ENST00000522605,NM_018923.2,NM_032096.1;							MODERATE	548/2796	Q183R	PCDG4_HUMAN			Transcript		benign(0.096)	.	ENSP00000458570		CCDS58979.1			1	
AMER3	0	LGGM	GRCh37	2	131520207	131520207	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	10	8	.	.	ENST00000423981.1:c.562G>A	p.Gly188Arg	p.G188R	ENST00000423981	NM_001105194.1	188	Ggg/Agg	0	1		UPI0000D61239	0	NA	ENST00000321420		ENSG00000178171	26771		18	0.46		HGNC	p.G188R		AMER3		SNV							ENST00000321420	protein_coding	getma.org/?cm=var&var=hg19,2,131520207,G,A&fts=all		hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2,Low_complexity_(Seg):seg		G/R		A	neutral	821/3273		getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=1&re=200&var=G188R	tolerated(0.2)	C9JS07_HUMAN,C9J4B8_HUMAN				AMER3,missense_variant,p.Gly188Arg,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Gly188Arg,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;							MODERATE	562/2586	G188R	AMER3_HUMAN			Transcript		benign(0.2)	.	ENSP00000314914		CCDS2164.1			1	
TXNDC9	0	LGGM	GRCh37	2	99949527	99949527	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	28	8	.	.	ENST00000264255.3:c.147A>G	p.Glu49=	p.E49=	ENST00000264255	NM_005783.3	49	gaA/gaG	0	1	1	UPI0000124E09	0		ENST00000264255		ENSG00000115514	24110		36			HGNC	p.E49E		TXNDC9		SNV							ENST00000434323	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52833,hmmpanther:PTHR21148		E		C		403/1637				B8ZZX4_HUMAN			YES	TXNDC9,synonymous_variant,p.=,ENST00000264255,NM_005783.3;TXNDC9,synonymous_variant,p.=,ENST00000409434,;TXNDC9,synonymous_variant,p.=,ENST00000434323,;TXNDC9,synonymous_variant,p.=,ENST00000409705,;EIF5B,upstream_gene_variant,,ENST00000289371,NM_015904.3;TXNDC9,downstream_gene_variant,,ENST00000477337,;TXNDC9,synonymous_variant,p.=,ENST00000422767,;TXNDC9,synonymous_variant,p.=,ENST00000438680,;TXNDC9,non_coding_transcript_exon_variant,,ENST00000463385,;TXNDC9,non_coding_transcript_exon_variant,,ENST00000465183,;							LOW	147/681		TXND9_HUMAN			Transcript			.	ENSP00000264255		CCDS2044.1			1	
CLDN8	0	LGGM	GRCh37	21	31587636	31587636	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	32	8	.	.	ENST00000399899.1:c.608G>T	p.Arg203Leu	p.R203L	ENST00000399899	NM_199328.2	203	cGc/cTc	0	1	1	UPI00000389FD	0	NA	ENST00000399899		ENSG00000156284	2050		40	0		HGNC	p.R203L		CLDN8		SNV							ENST00000286809	protein_coding	getma.org/?cm=var&var=hg19,21,31587636,C,A&fts=all		Prints_domain:PR01446,hmmpanther:PTHR12002:SF24,hmmpanther:PTHR12002		R/L		A	neutral	756/2068		getma.org/?cm=msa&ty=f&p=CLD8_HUMAN&rb=183&re=225&var=R203L	tolerated(0.36)				YES	CLDN8,missense_variant,p.Arg203Leu,ENST00000399899,NM_199328.2;CLDN8,missense_variant,p.Arg203Leu,ENST00000286809,;LINC00307,upstream_gene_variant,,ENST00000451410,;							MODERATE	608/678	R203L	CLD8_HUMAN			Transcript		benign(0.005)	.	ENSP00000382783		CCDS13587.1			1	
IL31	0	LGGM	GRCh37	12	122657193	122657193	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	3	8	.	.	ENST00000377035.1:c.261C>T	p.Ala87=	p.A87=	ENST00000377035	NM_001014336.1	87	gcC/gcT	0	1	1	UPI00003BF6FE	0		ENST00000377035		ENSG00000204671	19372		11			HGNC	p.A87A		IL31		SNV							ENST00000377035	protein_coding			Pfam_domain:PF15209		A		A		288/904							YES	IL31,synonymous_variant,p.=,ENST00000377035,NM_001014336.1;LRRC43,intron_variant,,ENST00000537729,;							LOW	261/495		IL31_HUMAN			Transcript			.	ENSP00000366234		CCDS31919.1			1	
LTN1	0	LGGM	GRCh37	21	30318508	30318508	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	21	9	.	.	ENST00000389194.2:c.3727A>G	p.Lys1243Glu	p.K1243E	ENST00000389194	NM_015565.2	1243	Aag/Gag	0	1		UPI00001A95E0	0	NA	ENST00000361371		ENSG00000198862	13082		30	0.345		HGNC	p.K1197E		LTN1		SNV							ENST00000361371	protein_coding	getma.org/?cm=var&var=hg19,21,30318508,T,C&fts=all		hmmpanther:PTHR12389		K/E		C	neutral	3669/7685		getma.org/?cm=msa&ty=f&p=LTN1_HUMAN&rb=1195&re=1394&var=K1197E	deleterious(0.02)	G1UI34_HUMAN				LTN1,missense_variant,p.Lys1243Glu,ENST00000389194,NM_015565.2;LTN1,missense_variant,p.Lys1197Glu,ENST00000361371,;							MODERATE	3589/5301	K1197E	LTN1_HUMAN			Transcript		benign(0.057)	.	ENSP00000354977					1	
SSTR4	0	LGGM	GRCh37	20	23016686	23016686	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	14	9	.	.	ENST00000255008.3:c.566C>T	p.Pro189Leu	p.P189L	ENST00000255008	NM_001052.2	189	cCg/cTg	0	1	1	UPI000013CE7A	0	getma.org/pdb.php?prot=SSR4_HUMAN&from=64&to=311&var=P189L	ENST00000255008		ENSG00000132671	11333		23	1.365		HGNC	p.P189L		SSTR4		SNV							ENST00000255008	protein_coding	getma.org/?cm=var&var=hg19,20,23016686,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF15,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00590		P/L		T	low	630/1258		getma.org/?cm=msa&ty=f&p=SSR4_HUMAN&rb=64&re=311&var=P189L	tolerated(0.11)				YES	SSTR4,missense_variant,p.Pro189Leu,ENST00000255008,NM_001052.2;RP4-753D10.3,intron_variant,,ENST00000440921,;RP4-753D10.3,upstream_gene_variant,,ENST00000419734,;							MODERATE	566/1167	P189L	SSR4_HUMAN			Transcript		benign(0.212)	.	ENSP00000255008		CCDS42856.1			1	
VEPH1	0	LGGM	GRCh37	3	157004390	157004390	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	76	9	.	.	ENST00000362010.2:c.2084G>A	p.Gly695Glu	p.G695E	ENST00000362010	NM_001167912.1	695	gGa/gAa	0	1	1	UPI000013F6EE	0	NA	ENST00000362010		ENSG00000197415	25735		85	1.995		HGNC	p.G695E	rs372124270	VEPH1		SNV	T:0						ENST00000392832	protein_coding	getma.org/?cm=var&var=hg19,3,157004390,C,T&fts=all		hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9		G/E	T:0.0001	T	medium	2392/4202	0.00012	getma.org/?cm=msa&ty=f&p=MELT_HUMAN&rb=578&re=716&var=G695E	deleterious(0.04)	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN			YES	VEPH1,missense_variant,p.Gly695Glu,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Gly650Glu,ENST00000543418,NM_024621.2;VEPH1,missense_variant,p.Gly650Glu,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Gly695Glu,ENST00000392832,;RP11-550I24.2,intron_variant,,ENST00000494885,;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,intron_variant,,ENST00000475102,;RP11-550I24.2,downstream_gene_variant,,ENST00000488040,;							MODERATE	2084/2502	G695E	MELT_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000354919	6.59E-05	CCDS3179.1			1	
KPNA5	0	LGGM	GRCh37	6	117010507	117010507	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	21	9	.	.	ENST00000368564.1:c.29A>C	p.Asp10Ala	p.D10A	ENST00000368564		10	gAt/gCt	0	1		UPI000000DBE6	0	NA	ENST00000356348		ENSG00000196911	6398		30	0.635		HGNC	p.D10A		KPNA5		SNV							ENST00000368564	protein_coding	getma.org/?cm=var&var=hg19,6,117010507,A,C&fts=all		PROSITE_profiles:PS51214,hmmpanther:PTHR23316:SF10,hmmpanther:PTHR23316,Gene3D:1.25.10.10,Pfam_domain:PF01749,PIRSF_domain:PIRSF005673,Superfamily_domains:SSF48371		D/A		C	neutral	160/2157		getma.org/?cm=msa&ty=f&p=IMA5_HUMAN&rb=2&re=94&var=D7A	tolerated(0.38)	Q5TD90_HUMAN				KPNA5,missense_variant,p.Asp10Ala,ENST00000368564,;KPNA5,missense_variant,p.Asp10Ala,ENST00000356348,NM_002269.2;KPNA5,missense_variant,p.Asp7Ala,ENST00000413340,;							MODERATE	29/1620	D7A	IMA6_HUMAN			Transcript		possibly_damaging(0.516)	.	ENSP00000348704		CCDS5111.1			1	
GLUD1	0	LGGM	GRCh37	10	88822566	88822566	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	11	9	.	.	ENST00000277865.4:c.768T>C	p.Thr256=	p.T256=	ENST00000277865	NM_005271.3	256	acT/acC	0	1	1	UPI0000001C96	0		ENST00000277865		ENSG00000148672	4335		20			HGNC	p.T256T		GLUD1		SNV			1				ENST00000277865	protein_coding			hmmpanther:PTHR11606:SF10,hmmpanther:PTHR11606,Gene3D:3.40.192.10,Superfamily_domains:SSF53223,Prints_domain:PR00082		T		G		865/3039				Q9UQV0_HUMAN,E9KL48_HUMAN,B3KV55_HUMAN			YES	GLUD1,synonymous_variant,p.=,ENST00000277865,NM_005271.3;GLUD1,synonymous_variant,p.=,ENST00000537649,;GLUD1,synonymous_variant,p.=,ENST00000544149,;GLUD1,non_coding_transcript_exon_variant,,ENST00000474574,;GLUD1,upstream_gene_variant,,ENST00000465164,;GLUD1,upstream_gene_variant,,ENST00000487058,;							LOW	768/1677		DHE3_HUMAN			Transcript			.	ENSP00000277865		CCDS7382.1			1	
TNPO1	0	LGGM	GRCh37	5	72187657	72187658	+	frameshift_variant	Frame_Shift_Del	DEL	GC	GC	-	novel	by Submitter	H104529	H104529N.bam	GC	GC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	14	9	.	.	ENST00000337273.5:c.1722_1723del	p.Met574IlefsTer13	p.M574Ifs*13	ENST00000337273	NM_002270.3	574	atGCct/atct	0	1	1	UPI000020CAB6	0		ENST00000337273		ENSG00000083312	6401		23			HGNC	p.85_86del		TNPO1		deletion							ENST00000519220	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527		MP/IX		-		2148-2149/11183				S4R398_HUMAN			YES	TNPO1,frameshift_variant,p.Met574IlefsTer13,ENST00000337273,NM_002270.3;TNPO1,frameshift_variant,p.Met524IlefsTer13,ENST00000454282,;TNPO1,frameshift_variant,p.Met566IlefsTer13,ENST00000506351,NM_153188.2;TNPO1,frameshift_variant,p.Met524IlefsTer13,ENST00000523768,;TNPO1,upstream_gene_variant,,ENST00000605210,;TNPO1,downstream_gene_variant,,ENST00000505082,;							HIGH	1722-1723/2697		TNPO1_HUMAN			Transcript			.	ENSP00000336712		CCDS43329.1			1	
NCKAP5L	0	LGGM	GRCh37	12	50192166	50192166	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	6	9	.	.	ENST00000335999.6:c.432G>A	p.Pro144=	p.P144=	ENST00000335999	NM_001037806.3	144	ccG/ccA	0	1	1	UPI00006C1298	0		ENST00000335999		ENSG00000167566	29321		15			HGNC	p.P144P	rs760669689	NCKAP5L	0.000124	SNV							ENST00000335999	protein_coding			hmmpanther:PTHR21740		P		T		634/4900							YES	NCKAP5L,synonymous_variant,p.=,ENST00000335999,NM_001037806.3;NCKAP5L,upstream_gene_variant,,ENST00000433948,;NCKAP5L,downstream_gene_variant,,ENST00000477361,;NCKAP5L,downstream_gene_variant,,ENST00000491441,;							LOW	432/4005		NCK5L_HUMAN			Transcript			.	ENSP00000337998	8.43E-06	CCDS41781.2			1	
KIAA0408	0	LGGM	GRCh37	6	127771420	127771420	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	25	11	.	.	ENST00000483725.3:c.213G>A	p.Lys71=	p.K71=	ENST00000483725	NM_014702.4	71	aaG/aaA	0	1	1	UPI00001C0BD7	0		ENST00000483725		ENSG00000189367	21636		36			HGNC	p.K71K	rs766010368	KIAA0408		SNV							ENST00000483725	protein_coding			Pfam_domain:PF14818,hmmpanther:PTHR15705		K		T		550/3284	1.50E-05						YES	KIAA0408,synonymous_variant,p.=,ENST00000483725,NM_014702.4;KIAA0408,synonymous_variant,p.=,ENST00000487331,;SOGA3,3_prime_UTR_variant,,ENST00000556132,NM_001012279.2;SOGA3,3_prime_UTR_variant,,ENST00000368268,;KIAA0408,upstream_gene_variant,,ENST00000465254,;SOGA3,downstream_gene_variant,,ENST00000474293,;SOGA3,3_prime_UTR_variant,,ENST00000481848,;SOGA3,3_prime_UTR_variant,,ENST00000473298,;SOGA3,3_prime_UTR_variant,,ENST00000464495,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000368281,;KIAA0408,non_coding_transcript_exon_variant,,ENST00000472335,;							LOW	213/2085		K0408_HUMAN			Transcript			.	ENSP00000435150	8.24E-06	CCDS34531.1			1	
STEAP4	0	LGGM	GRCh37	7	87908833	87908833	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	11	11	.	.	ENST00000380079.4:c.1260C>T	p.Tyr420=	p.Y420=	ENST00000380079	NM_024636.3	420	taC/taT	0	1	1	UPI000003C39A	0		ENST00000380079		ENSG00000127954	21923		22			HGNC	p.Y420Y	rs528338063	STEAP4	0.000546	SNV							ENST00000380079	protein_coding		A:0	Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5		Y		A		1362/4451	4.50E-05				A:0	A:0	YES	STEAP4,synonymous_variant,p.=,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,synonymous_variant,p.=,ENST00000301959,NM_001205316.1;STEAP4,downstream_gene_variant,,ENST00000414498,;AC003991.3,intron_variant,,ENST00000600908,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000434733,;AC003991.3,downstream_gene_variant,,ENST00000594469,;		A:0.0002					LOW	1260/1380		STEA4_HUMAN		A:0.001	Transcript			common_variant	ENSP00000369419	9.92E-05	CCDS43611.1		A:0	1	
RET	0	LGGM	GRCh37	10	43610146	43610146	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	7	12	.	.	ENST00000355710.3:c.2098A>G	p.Met700Val	p.M700V	ENST00000355710	NM_020975.4	700	Atg/Gtg	0	1	1	UPI00001336E1	0	NA	ENST00000355710		ENSG00000165731	9967		19	0.55		HGNC	p.M700V		RET		SNV			1				ENST00000355710	protein_coding	getma.org/?cm=var&var=hg19,10,43610146,A,G&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000631,hmmpanther:PTHR24416:SF264,hmmpanther:PTHR24416		M/V		G	neutral	2330/5659		getma.org/?cm=msa&ty=f&p=RET_HUMAN&rb=663&re=723&var=M700V	tolerated(0.33)	Q9UQV8_HUMAN,Q9UM90_HUMAN,Q9UE13_HUMAN,Q8NFE8_HUMAN,Q8IZR8_HUMAN			YES	RET,missense_variant,p.Met700Val,ENST00000355710,NM_020975.4;RET,missense_variant,p.Met700Val,ENST00000340058,NM_020630.4;RET,downstream_gene_variant,,ENST00000498820,;							MODERATE	2098/3345	M700V	RET_HUMAN			Transcript		benign(0.001)	.	ENSP00000347942		CCDS7200.1			1	
HNRNPUL1	0	LGGM	GRCh37	19	41809975	41809975	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	20	12	.	.	ENST00000392006.3:c.2071G>T	p.Ala691Ser	p.A691S	ENST00000392006	NM_007040.3	691	Gct/Tct	0	1	1	UPI000013D3F4	0	NA	ENST00000392006		ENSG00000105323	17011		32	-0.205		HGNC	p.A577S		HNRNPUL1		SNV							ENST00000378215	protein_coding	getma.org/?cm=var&var=hg19,19,41809975,G,T&fts=all		hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Prints_domain:PR01217		A/S		T	neutral	2244/3555		getma.org/?cm=msa&ty=f&p=HNRL1_HUMAN&rb=667&re=754&var=A691S	tolerated_low_confidence(0.76)	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN			YES	HNRNPUL1,missense_variant,p.Ala691Ser,ENST00000392006,NM_007040.3;HNRNPUL1,missense_variant,p.Ala591Ser,ENST00000352456,NM_144732.2;HNRNPUL1,missense_variant,p.Ala602Ser,ENST00000263367,;HNRNPUL1,missense_variant,p.Ala691Ser,ENST00000602130,;HNRNPUL1,missense_variant,p.Ala577Ser,ENST00000378215,;HNRNPUL1,missense_variant,p.Ala591Ser,ENST00000595018,;HNRNPUL1,missense_variant,p.Ala591Ser,ENST00000593587,;HNRNPUL1,missense_variant,p.Ala540Ser,ENST00000599614,;TGFB1,intron_variant,,ENST00000598758,;HNRNPUL1,downstream_gene_variant,,ENST00000600493,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,non_coding_transcript_exon_variant,,ENST00000595806,;							MODERATE	2071/2571	A691S	HNRL1_HUMAN			Transcript		unknown(0)	.	ENSP00000375863		CCDS12576.1			1	
RAPGEF6	0	LGGM	GRCh37	5	130834223	130834223	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	17	12	.	.	ENST00000296859.6:c.1332A>G	p.Leu444=	p.L444=	ENST00000296859		444	ctA/ctG	0	1		UPI000020C537	0		ENST00000509018		ENSG00000158987	20655		29			HGNC	p.L444L	rs762582643	RAPGEF6		SNV							ENST00000507093	protein_coding			Superfamily_domains:0041591,SMART_domains:SM00229,Pfam_domain:PF00618,Gene3D:2ii0A01,hmmpanther:PTHR23113:SF171,hmmpanther:PTHR23113,PROSITE_profiles:PS50212		L		C		1538/8357	1.50E-05			D6RB02_HUMAN				RAPGEF6,synonymous_variant,p.=,ENST00000509018,NM_016340.5,NM_001164386.1;RAPGEF6,synonymous_variant,p.=,ENST00000307984,NM_001164387.1;CTC-432M15.3,synonymous_variant,p.=,ENST00000514667,;RAPGEF6,synonymous_variant,p.=,ENST00000507093,NM_001164388.1;RAPGEF6,synonymous_variant,p.=,ENST00000296859,;RAPGEF6,synonymous_variant,p.=,ENST00000308008,NM_001164389.1;RAPGEF6,synonymous_variant,p.=,ENST00000512052,;RAPGEF6,synonymous_variant,p.=,ENST00000510071,NM_001164390.1;RAPGEF6,synonymous_variant,p.=,ENST00000515170,;RAPGEF6,intron_variant,,ENST00000514179,;							LOW	1332/4806		RPGF6_HUMAN			Transcript			.	ENSP00000421684	8.24E-06	CCDS34225.1			1	
ZNF554	0	LGGM	GRCh37	19	2827654	2827654	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	13	12	.	.	ENST00000317243.5:c.166C>T	p.Gln56Ter	p.Q56*	ENST00000317243	NM_001102651.1	56	Cag/Tag	0	1	1	UPI000000DC5D	0	NA	ENST00000317243		ENSG00000172006	26629		25	0		HGNC	p.Q56X		ZNF554		SNV							ENST00000591265	protein_coding	getma.org/?cm=var&var=hg19,19,2827654,C,T&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF56,SMART_domains:SM00349		Q/*		T	NA	364/2736		NA					YES	ZNF554,stop_gained,p.Gln56Ter,ENST00000317243,NM_001102651.1;ZNF554,stop_gained,p.Gln56Ter,ENST00000591265,;ZNF554,3_prime_UTR_variant,,ENST00000590116,;ZNF554,upstream_gene_variant,,ENST00000588534,;							HIGH	166/1617	Q56*	ZN554_HUMAN			Transcript			.	ENSP00000321132		CCDS42462.1			1	
IGFBP7	0	LGGM	GRCh37	4	57899363	57899363	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	3	12	.	.	ENST00000295666.4:c.700C>A	p.Leu234Met	p.L234M	ENST00000295666	NM_001553.2	234	Ctg/Atg	0	1	1	UPI00000422D2	0	getma.org/pdb.php?prot=IBP7_HUMAN&from=160&to=265&var=L234M	ENST00000295666		ENSG00000163453	5476		15	1.585		HGNC	p.L234M		IGFBP7		SNV			1				ENST00000537922	protein_coding	getma.org/?cm=var&var=hg19,4,57899363,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR14186:SF15,hmmpanther:PTHR14186,Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF018239,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/M		T	low	734/1427		getma.org/?cm=msa&ty=f&p=IBP7_HUMAN&rb=160&re=265&var=L234M	deleterious(0.04)				YES	IGFBP7,missense_variant,p.Leu234Met,ENST00000295666,NM_001553.2;IGFBP7,missense_variant,p.Leu234Met,ENST00000537922,NM_001253835.1;POLR2B,downstream_gene_variant,,ENST00000381227,;POLR2B,downstream_gene_variant,,ENST00000441246,;POLR2B,downstream_gene_variant,,ENST00000314595,NM_000938.1;POLR2B,downstream_gene_variant,,ENST00000431623,;IGFBP7,splice_region_variant,,ENST00000512512,;IGFBP7,splice_region_variant,,ENST00000514062,;POLR2B,downstream_gene_variant,,ENST00000478188,;							MODERATE	700/849	L234M	IBP7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295666		CCDS3512.1			1	
LAMB2	0	LGGM	GRCh37	3	49161231	49161231	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	20	14	.	.	ENST00000418109.1:c.3727G>T	p.Gly1243Cys	p.G1243C	ENST00000418109	NM_002292.3	1243	Ggc/Tgc	0	1		UPI000013EA62	0	NA	ENST00000305544		ENSG00000172037	6487		34	1.39		HGNC	p.G1243C		LAMB2		SNV			1				ENST00000418109	protein_coding	getma.org/?cm=var&var=hg19,3,49161231,C,A&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36		G/C		A	low	3880/5643		getma.org/?cm=msa&ty=f&p=LAMB2_HUMAN&rb=1194&re=1393&var=G1243C	deleterious(0.04)	F5H520_HUMAN				LAMB2,missense_variant,p.Gly1243Cys,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Gly1243Cys,ENST00000305544,;USP19,upstream_gene_variant,,ENST00000453664,NM_001199161.1,NM_001199162.1;USP19,upstream_gene_variant,,ENST00000417901,;USP19,upstream_gene_variant,,ENST00000434032,NM_001199160.1;USP19,upstream_gene_variant,,ENST00000398892,;USP19,upstream_gene_variant,,ENST00000398888,NM_006677.2;USP19,upstream_gene_variant,,ENST00000398898,;USP19,upstream_gene_variant,,ENST00000306026,;USP19,upstream_gene_variant,,ENST00000488993,;USP19,upstream_gene_variant,,ENST00000491859,;LAMB2,downstream_gene_variant,,ENST00000464891,;USP19,upstream_gene_variant,,ENST00000465902,;LAMB2,downstream_gene_variant,,ENST00000486298,;LAMB2,non_coding_transcript_exon_variant,,ENST00000480640,;LAMB2,non_coding_transcript_exon_variant,,ENST00000477225,;LAMB2,upstream_gene_variant,,ENST00000469665,;LAMB2,upstream_gene_variant,,ENST00000498377,;LAMB2,upstream_gene_variant,,ENST00000467506,;LAMB2,downstream_gene_variant,,ENST00000493571,;LAMB2,downstream_gene_variant,,ENST00000542580,;LAMB2,downstream_gene_variant,,ENST00000538659,;LAMB2,downstream_gene_variant,,ENST00000477701,;LAMB2,downstream_gene_variant,,ENST00000483057,;LAMB2,downstream_gene_variant,,ENST00000462930,;LAMB2,upstream_gene_variant,,ENST00000484713,;LAMB2,downstream_gene_variant,,ENST00000483321,;LAMB2,downstream_gene_variant,,ENST00000488638,;							MODERATE	3727/5397	G1243C	LAMB2_HUMAN			Transcript		benign(0.443)	.	ENSP00000307156		CCDS2789.1			1	
TLN1	0	LGGM	GRCh37	9	35714370	35714370	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	24	14	.	.	ENST00000314888.9:c.2986C>G	p.Pro996Ala	p.P996A	ENST00000314888	NM_006289.3	996	Cca/Gca	0	1	1	UPI0000211375	0	NA	ENST00000314888		ENSG00000137076	11845		38	2.35		HGNC	p.P996A		TLN1		SNV							ENST00000540444	protein_coding	getma.org/?cm=var&var=hg19,9,35714370,G,C&fts=all		Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981		P/A		C	medium	3340/8823		getma.org/?cm=msa&ty=f&p=TLN1_HUMAN&rb=853&re=1052&var=P996A	tolerated(0.07)				YES	TLN1,missense_variant,p.Pro996Ala,ENST00000314888,NM_006289.3;TLN1,missense_variant,p.Pro996Ala,ENST00000540444,;							MODERATE	2986/7626	P996A	TLN1_HUMAN			Transcript		benign(0.069)	.	ENSP00000316029		CCDS35009.1			1	
CLEC7A	0	LGGM	GRCh37	12	10271120	10271120	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	19	14	.	.	ENST00000304084.8:c.681C>T	p.Val227=	p.V227=	ENST00000304084	NM_197947.2	227	gtC/gtT	0	1	1	UPI0000073FA0	0		ENST00000304084		ENSG00000172243	14558		33			HGNC	p.H142Y		CLEC7A		SNV			1				ENST00000298523	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22800,hmmpanther:PTHR22800:SF4,SMART_domains:SM00034,Superfamily_domains:SSF56436		V		A		836/1130							YES	CLEC7A,missense_variant,p.His142Tyr,ENST00000298523,NM_197949.2;CLEC7A,missense_variant,p.His188Tyr,ENST00000533022,NM_197948.2;CLEC7A,synonymous_variant,p.=,ENST00000353231,NM_022570.4;CLEC7A,synonymous_variant,p.=,ENST00000304084,NM_197947.2;CLEC7A,synonymous_variant,p.=,ENST00000396484,NM_197950.2;CLEC7A,synonymous_variant,p.=,ENST00000529761,;CLEC7A,3_prime_UTR_variant,,ENST00000465100,;CLEC7A,3_prime_UTR_variant,,ENST00000349926,;CLEC7A,non_coding_transcript_exon_variant,,ENST00000534609,;CLEC7A,downstream_gene_variant,,ENST00000531192,;							LOW	681/744		CLC7A_HUMAN			Transcript			.	ENSP00000302569		CCDS41753.1			1	
OR1J2	0	LGGM	GRCh37	9	125273585	125273585	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	22	14	.	.	ENST00000335302.5:c.505T>G	p.Cys169Gly	p.C169G	ENST00000335302	NM_054107.1	169	Tgt/Ggt	0	1	1	UPI0000041CF3	0	NA	ENST00000335302		ENSG00000197233	8209		36	4.25		HGNC	p.C169G		OR1J2		SNV							ENST00000335302	protein_coding	getma.org/?cm=var&var=hg19,9,125273585,T,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF324,Superfamily_domains:SSF81321		C/G		G	high	505/942		getma.org/?cm=msa&ty=f&p=OR1J2_HUMAN&rb=139&re=283&var=C169G	deleterious_low_confidence(0.01)				YES	OR1J2,missense_variant,p.Cys169Gly,ENST00000335302,NM_054107.1;							MODERATE	505/942	C169G	OR1J2_HUMAN			Transcript		possibly_damaging(0.589)	.	ENSP00000335575		CCDS35121.1			1	
PCDH15	0	LGGM	GRCh37	10	55626569	55626569	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104529	H104529N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	22	15	.	.	ENST00000361849.3:c.3550A>G	p.Ile1184Val	p.I1184V	ENST00000361849	NM_001142768.1	1184	Ata/Gta	0	1		UPI000014083E	0	getma.org/pdb.php?prot=PCD15_HUMAN&from=1149&to=1243&var=I1184V	ENST00000320301		ENSG00000150275	14674		37	0.665		HGNC	p.I1113V		PCDH15		SNV			1				ENST00000437009	protein_coding	getma.org/?cm=var&var=hg19,10,55626569,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF11,SMART_domains:SM00112,Superfamily_domains:SSF49313		I/V		C	neutral	3945/6845		getma.org/?cm=msa&ty=f&p=PCD15_HUMAN&rb=1149&re=1243&var=I1184V	tolerated(0.09)	A2A3D9_HUMAN				PCDH15,missense_variant,p.Ile1191Val,ENST00000373965,NM_001142772.1,NM_001142771.1;PCDH15,missense_variant,p.Ile1189Val,ENST00000414778,;PCDH15,missense_variant,p.Ile1184Val,ENST00000361849,NM_001142768.1,NM_001142765.1,NM_001142764.1,NM_001142763.1;PCDH15,missense_variant,p.Ile1147Val,ENST00000395432,NM_001142767.1;PCDH15,missense_variant,p.Ile1162Val,ENST00000395433,NM_001142773.1;PCDH15,missense_variant,p.Ile1184Val,ENST00000320301,NM_033056.3;PCDH15,missense_variant,p.Ile1184Val,ENST00000395430,NM_001142766.1;PCDH15,missense_variant,p.Ile1113Val,ENST00000437009,;PCDH15,missense_variant,p.Ile1184Val,ENST00000395438,NM_001142770.1;PCDH15,missense_variant,p.Ile1191Val,ENST00000395445,NM_001142769.1;PCDH15,missense_variant,p.Ile795Val,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,intron_variant,,ENST00000495484,;PCDH15,3_prime_UTR_variant,,ENST00000448885,;PCDH15,3_prime_UTR_variant,,ENST00000373956,;PCDH15,intron_variant,,ENST00000414367,;							MODERATE	3550/5868	I1184V	PCD15_HUMAN			Transcript		possibly_damaging(0.773)	.	ENSP00000322604		CCDS7248.1			1	
MPZL1	0	LGGM	GRCh37	1	167734897	167734897	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	52	15	.	.	ENST00000359523.2:c.169A>G	p.Thr57Ala	p.T57A	ENST00000359523	NM_024569.4	57	Acc/Gcc	0	1	1	UPI000004BA6A	0	getma.org/pdb.php?prot=MPZL1_HUMAN&from=37&to=154&var=T57A	ENST00000359523		ENSG00000197965	7226		67	0.69		HGNC	p.T31A		MPZL1		SNV							ENST00000367853	protein_coding	getma.org/?cm=var&var=hg19,1,167734897,A,G&fts=all		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		T/A		G	neutral	371/5010		getma.org/?cm=msa&ty=f&p=MPZL1_HUMAN&rb=37&re=154&var=T57A	tolerated(0.51)	A8K5D4_HUMAN			YES	MPZL1,missense_variant,p.Thr57Ala,ENST00000359523,NM_024569.4,NM_003953.5;MPZL1,missense_variant,p.Thr57Ala,ENST00000392121,NM_001146191.1;MPZL1,missense_variant,p.Thr31Ala,ENST00000367853,;MPZL1,missense_variant,p.Thr57Ala,ENST00000474859,;MPZL1,missense_variant,p.Thr57Ala,ENST00000448405,;MPZL1,non_coding_transcript_exon_variant,,ENST00000474729,;MPZL1,non_coding_transcript_exon_variant,,ENST00000465787,;MPZL1,non_coding_transcript_exon_variant,,ENST00000464954,;							MODERATE	169/810	T57A	MPZL1_HUMAN			Transcript		benign(0.078)	.	ENSP00000352513		CCDS1264.1			1	
CNTNAP3B	0	LGGM	GRCh37	9	43876118	43876118	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	3	16	.	.	ENST00000377564.3:c.2210G>T	p.Cys737Phe	p.C737F	ENST00000377564	NM_001201380.1	737	tGc/tTc	0	1			0	NA	ENST00000377561		ENSG00000154529	32035		19	3.555		HGNC	p.C737F		CNTNAP3B		SNV							ENST00000341990	retained_intron	getma.org/?cm=var&var=hg19,9,43876118,G,T&fts=all						T	high	2356/5256		getma.org/?cm=msa&ty=f&p=CNT3B_HUMAN&rb=585&re=792&var=C737F						CNTNAP3B,missense_variant,p.Cys737Phe,ENST00000377564,NM_001201380.1;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000377561,;CNTNAP3B,non_coding_transcript_exon_variant,,ENST00000341990,;CNTNAP3B,intron_variant,,ENST00000479351,;							MODIFIER		C737F				Transcript			.						1	
ZC3H12C	0	LGGM	GRCh37	11	110036254	110036254	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	18	16	.	.	ENST00000278590.3:c.2444A>G	p.Gln815Arg	p.Q815R	ENST00000278590	NM_033390.1	815	cAa/cGa	0	1	1	UPI0000DD80B8	0	NA	ENST00000278590		ENSG00000149289	29362		34	0.55		HGNC	p.Q816R		ZC3H12C		SNV							ENST00000528673	protein_coding	getma.org/?cm=var&var=hg19,11,110036254,A,G&fts=all		hmmpanther:PTHR12876,hmmpanther:PTHR12876:SF24		Q/R		G	neutral	2495/8807		getma.org/?cm=msa&ty=f&p=ZC12C_HUMAN&rb=457&re=881&var=Q815R	tolerated(0.27)	E9PP00_HUMAN			YES	ZC3H12C,missense_variant,p.Gln784Arg,ENST00000453089,;ZC3H12C,missense_variant,p.Gln815Arg,ENST00000278590,NM_033390.1;ZC3H12C,missense_variant,p.Gln816Arg,ENST00000528673,;							MODERATE	2444/2652	Q815R	ZC12C_HUMAN			Transcript		benign(0.002)	.	ENSP00000278590		CCDS44727.1			1	
CEP63	0	LGGM	GRCh37	3	134256014	134256014	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	29	17	.	.	ENST00000337090.3:c.459G>C	p.Ser153=	p.S153=	ENST00000337090		153	tcG/tcC	0	1	1	UPI000006D2FD	0		ENST00000337090		ENSG00000182923	25815		46			HGNC	p.S153S		CEP63		SNV			1				ENST00000383229	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF6		S		C		632/5778				D6RAY6_HUMAN,D6R9Q4_HUMAN			YES	CEP63,synonymous_variant,p.=,ENST00000337090,;CEP63,synonymous_variant,p.=,ENST00000513612,NM_025180.3;CEP63,synonymous_variant,p.=,ENST00000606977,;CEP63,synonymous_variant,p.=,ENST00000332047,NM_001042383.1;CEP63,synonymous_variant,p.=,ENST00000383229,NM_001042400.1;CEP63,synonymous_variant,p.=,ENST00000354446,NM_001042384.1;CEP63,synonymous_variant,p.=,ENST00000511574,;CEP63,synonymous_variant,p.=,ENST00000508778,;CEP63,downstream_gene_variant,,ENST00000504013,;CEP63,non_coding_transcript_exon_variant,,ENST00000510625,;							LOW	459/2112		CEP63_HUMAN			Transcript			.	ENSP00000336524		CCDS3086.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73161382	73161382	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104529	H104529N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	18	17	.	.	ENST00000286657.4:c.2712T>C	p.Cys904=	p.C904=	ENST00000286657	NM_014243.2	904	tgT/tgC	0	1	1	UPI00001AEAEA	0		ENST00000286657		ENSG00000156140	219		35			HGNC	p.C904C		ADAMTS3		SNV							ENST00000286657	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		C		G		2749/5822				Q96AY5_HUMAN			YES	ADAMTS3,synonymous_variant,p.=,ENST00000286657,NM_014243.2;ADAMTS3,downstream_gene_variant,,ENST00000511274,;							LOW	2712/3618		ATS3_HUMAN			Transcript			.	ENSP00000286657		CCDS3553.1			1	
ALOX12	0	LGGM	GRCh37	17	6903781	6903781	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	11	18	.	.	ENST00000251535.6:c.934C>A	p.Gln312Lys	p.Q312K	ENST00000251535	NM_000697.2	312	Cag/Aag	0	1	1	UPI000013CD03	0	getma.org/pdb.php?prot=LOX12_HUMAN&from=121&to=655&var=Q312K	ENST00000251535		ENSG00000108839	429		29	-0.625		HGNC	p.Q146K		ALOX12		SNV			1				ENST00000480801	protein_coding	getma.org/?cm=var&var=hg19,17,6903781,C,A&fts=all		Gene3D:3.10.450.60,Pfam_domain:PF00305,Prints_domain:PR00467,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF4,Superfamily_domains:SSF48484		Q/K		A	neutral	987/2358		getma.org/?cm=msa&ty=f&p=LOX12_HUMAN&rb=121&re=655&var=Q312K	deleterious(0)				YES	ALOX12,missense_variant,p.Gln312Lys,ENST00000251535,NM_000697.2;ALOX12,missense_variant,p.Gln146Lys,ENST00000480801,;AC027763.2,intron_variant,,ENST00000574377,;AC027763.2,intron_variant,,ENST00000399541,;AC027763.2,intron_variant,,ENST00000575727,;AC027763.2,intron_variant,,ENST00000575889,;AC027763.2,downstream_gene_variant,,ENST00000399540,;AC027763.2,downstream_gene_variant,,ENST00000573939,;RP11-589P10.7,intron_variant,,ENST00000572547,;AC027763.2,intron_variant,,ENST00000572385,;AC027763.2,intron_variant,,ENST00000570562,;AC027763.2,intron_variant,,ENST00000571010,;							MODERATE	934/1992	Q312K	LOX12_HUMAN			Transcript		benign(0)	.	ENSP00000251535		CCDS11084.1			1	
SPHKAP	0	LGGM	GRCh37	2	228883288	228883288	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	27	19	.	.	ENST00000392056.3:c.2282C>G	p.Ala761Gly	p.A761G	ENST00000392056	NM_001142644.1	761	gCt/gGt	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		46	1.735		HGNC	p.A761G		SPHKAP		SNV							ENST00000344657	protein_coding	getma.org/?cm=var&var=hg19,2,228883288,G,C&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		A/G		C	low	2329/6917		getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=601&re=800&var=A761G	tolerated(0.2)				YES	SPHKAP,missense_variant,p.Ala761Gly,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Ala761Gly,ENST00000344657,NM_030623.3;							MODERATE	2282/5103	A761G	SPKAP_HUMAN			Transcript		benign(0.013)	.	ENSP00000375909		CCDS46537.1			1	
ANKFN1	0	LGGM	GRCh37	17	54535265	54535265	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	36	20	.	.	ENST00000318698.2:c.1491del	p.Ser497ArgfsTer51	p.S497Rfs*51	ENST00000318698	NM_153228.2	497	agC/ag	0	1	1	UPI000049DE57	0		ENST00000318698		ENSG00000153930	26766		56			HGNC	p.S497fs		ANKFN1		deletion							ENST00000566473	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437		S/X		-		1526/2426							YES	ANKFN1,frameshift_variant,p.Ser497ArgfsTer51,ENST00000566473,;ANKFN1,frameshift_variant,p.Ser497ArgfsTer51,ENST00000318698,NM_153228.2;ANKFN1,non_coding_transcript_exon_variant,,ENST00000572321,;							HIGH	1491/2292		ANKF1_HUMAN			Transcript			.	ENSP00000321627		CCDS32686.1			1	
TRIM51	0	LGGM	GRCh37	11	55653631	55653631	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	27	22	.	.	ENST00000449290.2:c.444G>A	p.Trp148Ter	p.W148*	ENST00000449290	NM_032681.3	148	tgG/tgA	0	1	1	UPI0000DFFA1E	0	NA	ENST00000449290		ENSG00000124900	19023		49	0		HGNC	p.W148X		TRIM51		SNV							ENST00000449290	protein_coding	getma.org/?cm=var&var=hg19,11,55653631,G,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF302,Superfamily_domains:SSF57845		W/*		A	NA	536/1629		NA		I1YAQ1_HUMAN			YES	TRIM51,stop_gained,p.Trp148Ter,ENST00000449290,NM_032681.3;TRIM51,stop_gained,p.Trp5Ter,ENST00000244891,;RP11-738O11.9,downstream_gene_variant,,ENST00000533247,;							HIGH	444/1359	W148*	TRI51_HUMAN			Transcript			.	ENSP00000395086					1	
KMT2A	0	LGGM	GRCh37	11	118343127	118343127	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	37	22	.	.	ENST00000534358.1:c.1253C>G	p.Ser418Cys	p.S418C	ENST00000534358	NM_005933.3	418	tCc/tGc	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		59	0.895		HGNC	p.S418C		KMT2A		SNV			1				ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118343127,C,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		S/C		G	low	1253/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1&re=1008&var=S418C		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Ser418Cys,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Ser418Cys,ENST00000354520,;KMT2A,missense_variant,p.Ser418Cys,ENST00000389506,;KMT2A,missense_variant,p.Ser451Cys,ENST00000531904,;KMT2A,intron_variant,,ENST00000533790,;KMT2A,intron_variant,,ENST00000527869,;							MODERATE	1253/11910	S418C	KMT2A_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000374157		CCDS31686.1			1	
POTEJ	0	LGGM	GRCh37	2	131414190	131414190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	110	24	.	.	ENST00000409602.1:c.1857C>A	p.Ala619=	p.A619=	ENST00000409602	NM_001277083.1	619	gcC/gcA	0	1	1	UPI0000DD7A4B	0		ENST00000409602		ENSG00000222038	37094		134			HGNC	p.A619A		POTEJ		SNV							ENST00000409602	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14915,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46		A		A		1909/3383							YES	POTEJ,synonymous_variant,p.=,ENST00000409602,NM_001277083.1;AC140481.1,upstream_gene_variant,,ENST00000535037,;							LOW	1857/3117		POTEJ_HUMAN			Transcript			.	ENSP00000387176		CCDS59432.1			1	
AL359878.1	0	LGGM	GRCh37	10	1018601	1018601	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H104529	H104529N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	39	27	.	.	ENST00000381466.1:c.271C>T	p.Gln91Ter	p.Q91*	ENST00000381466		91	Cag/Tag	0	1	1	UPI0000228832	0		ENST00000381466		ENSG00000205740			66			Clone_based_ensembl_gene	p.Q91X		AL359878.1		SNV							ENST00000381466	protein_coding					Q/*		A		371/1875				E7EPV4_HUMAN			YES	AL359878.1,stop_gained,p.Gln91Ter,ENST00000381466,;							HIGH	271/432					Transcript			.	ENSP00000370875					1	
RAB3GAP1	0	LGGM	GRCh37	2	135920664	135920664	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	56	55	.	.	ENST00000442034.1:c.2599C>G	p.Leu867Val	p.L867V	ENST00000442034	NM_001172435.1	867	Ctt/Gtt	0	1		UPI0000072FAA	0	NA	ENST00000264158		ENSG00000115839	17063		111	1.59		HGNC	p.L823V		RAB3GAP1		SNV			1				ENST00000539493	protein_coding	getma.org/?cm=var&var=hg19,2,135920664,C,G&fts=all		hmmpanther:PTHR21422,Low_complexity_(Seg):seg		L/V		G	low	2642/4914		getma.org/?cm=msa&ty=f&p=RB3GP_HUMAN&rb=771&re=970&var=L867V	tolerated(0.19)	D3DP75_HUMAN,B9A6J2_HUMAN				RAB3GAP1,missense_variant,p.Leu867Val,ENST00000264158,NM_012233.2;RAB3GAP1,missense_variant,p.Leu867Val,ENST00000442034,NM_001172435.1;RAB3GAP1,missense_variant,p.Leu823Val,ENST00000539493,;RAB3GAP1,non_coding_transcript_exon_variant,,ENST00000487003,;ZRANB3,intron_variant,,ENST00000412849,;							MODERATE	2599/2946	L867V	RB3GP_HUMAN			Transcript		benign(0.417)	.	ENSP00000264158		CCDS33294.1			1	
POTEH	0	LGGM	GRCh37	22	16287808	16287808	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104529	H104529N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104529N.bam, H104529T.bam	Illumina HiSeq	106	68	.	.	ENST00000343518.6:c.78G>A	p.Lys26=	p.K26=	ENST00000343518	NM_001136213.1	26	aaG/aaA	0	1	1	UPI0000E5A425	0		ENST00000343518		ENSG00000198062	133		174			HGNC	p.K26K	rs200145504	POTEH		SNV							ENST00000343518	protein_coding			hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		K		T		130/1928	5.49E-05						YES	POTEH,synonymous_variant,p.=,ENST00000343518,NM_001136213.1;POTEH,upstream_gene_variant,,ENST00000452800,;							LOW	78/1638		POTEH_HUMAN			Transcript			.	ENSP00000340610	3.56E-05	CCDS46658.1			1	
CLUH	0	LGGM	GRCh37	17	2604541	2604541	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	2	2	.	.	ENST00000570628.2:c.804C>A	p.Phe268Leu	p.F268L	ENST00000570628		268	ttC/ttA	0	1		UPI00004C8042	0	NA	ENST00000435359		ENSG00000132361	29094		4	2.395		HGNC	p.F200L		CLUH		SNV							ENST00000575014	protein_coding	getma.org/?cm=var&var=hg19,17,2604541,G,T&fts=all		Superfamily_domains:0049393,HAMAP:MF_03013,hmmpanther:PTHR12601,hmmpanther:PTHR12601:SF10		F/L		T	medium	890/5224		getma.org/?cm=msa&ty=f&p=K0664_HUMAN&rb=201&re=355&var=F268L	deleterious(0)	I3L3A3_HUMAN,I3L350_HUMAN,I3L318_HUMAN				CLUH,missense_variant,p.Phe268Leu,ENST00000570628,;CLUH,missense_variant,p.Phe268Leu,ENST00000435359,NM_015229.3;CLUH,missense_variant,p.Phe268Leu,ENST00000538975,;CLUH,missense_variant,p.Phe209Leu,ENST00000575014,;CLUH,missense_variant,p.Phe306Leu,ENST00000574426,;CLUH,missense_variant,p.Phe44Leu,ENST00000572129,;CLUH,downstream_gene_variant,,ENST00000576885,;CLUH,downstream_gene_variant,,ENST00000571566,;CLUH,downstream_gene_variant,,ENST00000576309,;CLUH,non_coding_transcript_exon_variant,,ENST00000571539,;CLUH,upstream_gene_variant,,ENST00000575624,;							MODERATE	804/3930	F268L	CLU_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000388872		CCDS45572.1			1	
STRN	0	LGGM	GRCh37	2	37085101	37085101	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	7	2	.	.	ENST00000263918.4:c.1735G>T	p.Ala579Ser	p.A579S	ENST00000263918	NM_003162.3	579	Gca/Tca	0	1	1	UPI000013D48A	0	getma.org/pdb.php?prot=STRN_HUMAN&from=562&to=597&var=A579S	ENST00000263918		ENSG00000115808	11424		9	0.435		HGNC	p.A530S		STRN		SNV							ENST00000379213	protein_coding	getma.org/?cm=var&var=hg19,2,37085101,C,A&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR15653,hmmpanther:PTHR15653:SF2,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		A/S		A	neutral	1744/8168		getma.org/?cm=msa&ty=f&p=STRN_HUMAN&rb=562&re=597&var=A579S	tolerated(1)				YES	STRN,missense_variant,p.Ala579Ser,ENST00000263918,NM_003162.3;STRN,missense_variant,p.Ala530Ser,ENST00000379213,;							MODERATE	1735/2343	A579S	STRN_HUMAN			Transcript		benign(0.003)	.	ENSP00000263918		CCDS1784.1			1	
NUTM1	0	LGGM	GRCh37	15	34640595	34640595	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	17	2	.	.	ENST00000333756.4:c.442G>C	p.Val148Leu	p.V148L	ENST00000333756	NM_175741.1	148	Gtt/Ctt	0	1	1	UPI000016159A	0	NA	ENST00000333756		ENSG00000184507	29919		19	2.175		HGNC	p.V148L		NUTM1		SNV							ENST00000333756	protein_coding	getma.org/?cm=var&var=hg19,15,34640595,G,C&fts=all		hmmpanther:PTHR22879:SF13,hmmpanther:PTHR22879,Pfam_domain:PF12881		V/L		C	medium	597/3795		getma.org/?cm=msa&ty=f&p=NUT_HUMAN&rb=8&re=332&var=V148L	deleterious(0.04)				YES	NUTM1,missense_variant,p.Val176Leu,ENST00000537011,NM_001284292.1;NUTM1,missense_variant,p.Val166Leu,ENST00000438749,NM_001284293.1;NUTM1,missense_variant,p.Val148Leu,ENST00000333756,NM_175741.1;							MODERATE	442/3399	V148L	NUTM1_HUMAN			Transcript		benign(0.144)	.	ENSP00000329448		CCDS32190.1			1	
ADCY8	0	LGGM	GRCh37	8	131797657	131797657	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	44	3	.	.	ENST00000286355.5:c.3125C>T	p.Ala1042Val	p.A1042V	ENST00000286355	NM_001115.2	1042	gCc/gTc	0	1	1	UPI000012887C	0	getma.org/pdb.php?prot=ADCY8_HUMAN&from=973&to=1172&var=A1042V	ENST00000286355		ENSG00000155897	239		47	0.895		HGNC	p.A911V	COSM1674175	ADCY8		SNV						1	ENST00000377928	protein_coding	getma.org/?cm=var&var=hg19,8,131797657,G,A&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,SMART_domains:SM00044,Superfamily_domains:SSF55073		A/V		A	low	5218/5938		getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=973&re=1172&var=A1042V	deleterious(0.01)	E5RFR2_HUMAN			YES	ADCY8,missense_variant,p.Ala1042Val,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Ala911Val,ENST00000377928,;					1		MODERATE	3125/3756	A1042V	ADCY8_HUMAN			Transcript		benign(0.029)	.	ENSP00000286355		CCDS6363.1			1	
PM20D2	0	LGGM	GRCh37	6	89862848	89862848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	26	3	.	.	ENST00000275072.4:c.701C>A	p.Ala234Asp	p.A234D	ENST00000275072	NM_001010853.2	234	gCc/gAc	0	1	1	UPI0000160C07	0	getma.org/pdb.php?prot=P20D2_HUMAN&from=204&to=301&var=A234D	ENST00000275072		ENSG00000146281	21408		29	3.725		HGNC	p.A234D		PM20D2		SNV							ENST00000275072	protein_coding	getma.org/?cm=var&var=hg19,6,89862848,C,A&fts=all		Gene3D:3.30.70.360,Pfam_domain:PF01546,Pfam_domain:PF07687,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF2,Superfamily_domains:SSF55031		A/D		A	high	796/4708		getma.org/?cm=msa&ty=f&p=P20D2_HUMAN&rb=204&re=301&var=A234D	deleterious(0.01)				YES	PM20D2,missense_variant,p.Ala234Asp,ENST00000275072,NM_001010853.2;							MODERATE	701/1311	A234D	P20D2_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000275072		CCDS34499.1			1	
CCDC140	0	LGGM	GRCh37	2	223168699	223168699	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	17	3	.	.	ENST00000295226.1:c.78G>T	p.Arg26Ser	p.R26S	ENST00000295226	NM_153038.1	26	agG/agT	0	1	1	UPI000006ED1E	0	NA	ENST00000295226		ENSG00000163081	26514		20	0		HGNC	p.R26S		CCDC140		SNV							ENST00000295226	protein_coding	getma.org/?cm=var&var=hg19,2,223168699,G,T&fts=all				R/S		T	neutral	462/1699		getma.org/?cm=msa&ty=f&p=CC140_HUMAN&rb=1&re=163&var=R26S	deleterious_low_confidence(0)				YES	CCDC140,missense_variant,p.Arg26Ser,ENST00000295226,NM_153038.1;PAX3,upstream_gene_variant,,ENST00000392069,NM_001127366.2,NM_181458.3,NM_181459.3;PAX3,upstream_gene_variant,,ENST00000344493,NM_181461.3,NM_181460.3;PAX3,upstream_gene_variant,,ENST00000392070,;PAX3,upstream_gene_variant,,ENST00000336840,;CCDC140,downstream_gene_variant,,ENST00000440903,;							MODERATE	78/492	R26S	CC140_HUMAN			Transcript		benign(0.402)	.	ENSP00000295226		CCDS2452.1			1	
KIF27	0	LGGM	GRCh37	9	86482717	86482717	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	26	3	.	.	ENST00000297814.2:c.2816G>T	p.Arg939Leu	p.R939L	ENST00000297814	NM_017576.2	939	cGc/cTc	0	1	1	UPI000018F32F	0	NA	ENST00000297814		ENSG00000165115	18632		29	2.19		HGNC	p.R873L		KIF27		SNV							ENST00000413982	protein_coding	getma.org/?cm=var&var=hg19,9,86482717,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF404,hmmpanther:PTHR24115		R/L		A	medium	2960/4653		getma.org/?cm=msa&ty=f&p=KIF27_HUMAN&rb=355&re=1040&var=R939L	deleterious(0)	B4DMY5_HUMAN			YES	KIF27,missense_variant,p.Arg939Leu,ENST00000297814,NM_017576.2;KIF27,missense_variant,p.Arg873Leu,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,;							MODERATE	2816/4206	R939L	KIF27_HUMAN			Transcript		possibly_damaging(0.746)	.	ENSP00000297814		CCDS6665.1			1	
SUN5	0	LGGM	GRCh37	20	31590720	31590720	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	31	3	.	.	ENST00000356173.3:c.83C>T	p.Ala28Val	p.A28V	ENST00000356173	NM_080675.3	28	gCc/gTc	0	1	1	UPI0000135D7C	0	NA	ENST00000356173		ENSG00000167098	16252		34	0.69		HGNC	p.A28V		SUN5		SNV							ENST00000356173	protein_coding	getma.org/?cm=var&var=hg19,20,31590720,G,A&fts=all		hmmpanther:PTHR12911:SF19,hmmpanther:PTHR12911		A/V		A	neutral	176/1254		getma.org/?cm=msa&ty=f&p=SUN5_HUMAN&rb=1&re=179&var=A28V	tolerated_low_confidence(1)				YES	SUN5,missense_variant,p.Ala28Val,ENST00000356173,NM_080675.3;SUN5,missense_variant,p.Ala28Val,ENST00000375523,;SUN5,missense_variant,p.Ala17Val,ENST00000420875,;SUN5,missense_variant,p.Ala28Val,ENST00000375519,;BPIFB2,upstream_gene_variant,,ENST00000170150,NM_025227.2;							MODERATE	83/1140	A28V	SUN5_HUMAN			Transcript		benign(0)	.	ENSP00000348496		CCDS13209.1			1	
COL1A1	0	LGGM	GRCh37	17	48267058	48267058	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	13	3	.	.	ENST00000225964.5:c.2649C>T	p.Val883=	p.V883=	ENST00000225964	NM_000088.3	883	gtC/gtT	0	1	1	UPI000013C88B	0		ENST00000225964		ENSG00000108821	2197		16			HGNC	p.V883V	rs764159135	COL1A1		SNV			1	9.89E-05			ENST00000225964	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF54,Pfam_domain:PF01391		V		A		2768/6727				Q9UMA6_HUMAN,Q6LAN8_HUMAN			YES	COL1A1,synonymous_variant,p.=,ENST00000225964,NM_000088.3;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,;COL1A1,downstream_gene_variant,,ENST00000494334,;							LOW	2649/4395		CO1A1_HUMAN			Transcript			.	ENSP00000225964	8.24E-06	CCDS11561.1			1	
SDK1	0	LGGM	GRCh37	7	4273029	4273029	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	19	3	.	.	ENST00000404826.2:c.5970C>A	p.Ser1990Arg	p.S1990R	ENST00000404826	NM_152744.3	1990	agC/agA	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=1904&to=1990&var=S1990R	ENST00000404826		ENSG00000146555	19307		22	3.52		HGNC	p.S1990R	COSM1287792	SDK1		SNV						1	ENST00000404826	protein_coding	getma.org/?cm=var&var=hg19,7,4273029,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,Superfamily_domains:SSF49265		S/R		A	high	6109/10397		getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=1904&re=1990&var=S1990R	deleterious(0)				YES	SDK1,missense_variant,p.Ser1990Arg,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Ser1970Arg,ENST00000389531,;SDK1,non_coding_transcript_exon_variant,,ENST00000466611,;SDK1,non_coding_transcript_exon_variant,,ENST00000476701,;SDK1,non_coding_transcript_exon_variant,,ENST00000467827,;					1		MODERATE	5970/6642	S1990R	SDK1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000385899		CCDS34590.1			1	
FRMD6	0	LGGM	GRCh37	14	52174886	52174886	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	30	3	.	.	ENST00000344768.5:c.649C>G	p.Leu217Val	p.L217V	ENST00000344768		217	Ctt/Gtt	0	1	1	UPI00000473F6	0	getma.org/pdb.php?prot=FRMD6_HUMAN&from=119&to=234&var=L217V	ENST00000344768		ENSG00000139926	19839		33	2.39		HGNC	p.L209V		FRMD6		SNV							ENST00000356218	protein_coding	getma.org/?cm=var&var=hg19,14,52174886,C,G&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,Gene3D:1.20.80.10,Pfam_domain:PF00373,SMART_domains:SM00295,Superfamily_domains:SSF47031		L/V		G	medium	845/2972		getma.org/?cm=msa&ty=f&p=FRMD6_HUMAN&rb=119&re=234&var=L217V	deleterious(0.02)	G3V517_HUMAN,G3V3V8_HUMAN			YES	FRMD6,missense_variant,p.Leu209Val,ENST00000395718,NM_001267046.1,NM_152330.3;FRMD6,missense_variant,p.Leu209Val,ENST00000356218,NM_001042481.2;FRMD6,missense_variant,p.Leu140Val,ENST00000554167,;FRMD6,missense_variant,p.Leu217Val,ENST00000344768,;FRMD6,missense_variant,p.Leu107Val,ENST00000557405,;FRMD6,upstream_gene_variant,,ENST00000555197,;FRMD6,downstream_gene_variant,,ENST00000555936,;FRMD6,non_coding_transcript_exon_variant,,ENST00000557183,;FRMD6,non_coding_transcript_exon_variant,,ENST00000554495,;							MODERATE	649/1869	L217V	FRMD6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343899		CCDS58318.1			1	
MMP19	0	LGGM	GRCh37	12	56234508	56234508	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	44	3	.	.	ENST00000322569.4:c.463C>T	p.Arg155Cys	p.R155C	ENST00000322569	NM_002429.5	155	Cgc/Tgc	0	1	1	UPI0000030AE6	0	getma.org/pdb.php?prot=MMP19_HUMAN&from=103&to=256&var=R155C	ENST00000322569		ENSG00000123342	7165	0.000259	47	3.18		HGNC	p.R155C	rs368101801	MMP19	0.000121	SNV	A:0.0002			0.000192			ENST00000322569	protein_coding	getma.org/?cm=var&var=hg19,12,56234508,G,A&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF00413,PIRSF_domain:PIRSF001191,Prints_domain:PR00138,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,SMART_domains:SM00235,Superfamily_domains:SSF55486		R/C	A:0	A	medium	555/2229	7.50E-05	getma.org/?cm=msa&ty=f&p=MMP19_HUMAN&rb=103&re=256&var=R155C	deleterious(0)				YES	MMP19,missense_variant,p.Arg155Cys,ENST00000322569,NM_002429.5;MMP19,missense_variant,p.Arg132Cys,ENST00000548629,;MMP19,missense_variant,p.Arg155Cys,ENST00000409200,NM_001272101.1;MMP19,upstream_gene_variant,,ENST00000394182,;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,,ENST00000552872,;MMP19,3_prime_UTR_variant,,ENST00000552763,;MMP19,intron_variant,,ENST00000548882,;MMP19,upstream_gene_variant,,ENST00000547685,;							MODERATE	463/1527	R155C	MMP19_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000313437	9.88E-05	CCDS8895.1			1	
GPR98	0	LGGM	GRCh37	5	90149949	90149949	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	32	3	.	.	ENST00000405460.2:c.17525T>C	p.Ile5842Thr	p.I5842T	ENST00000405460	NM_032119.3	5842	aTt/aCt	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		35	2.215		HGNC	p.I5842T		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90149949,T,C&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		I/T		C	medium	17621/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=5734&re=5851&var=I5842T					YES	GPR98,missense_variant,p.Ile5842Thr,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ile1503Thr,ENST00000425867,;GPR98,non_coding_transcript_exon_variant,,ENST00000503852,;							MODERATE	17525/18921	I5842T	GPR98_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000384582		CCDS47246.1			1	
MAP4K1	0	LGGM	GRCh37	19	39086348	39086348	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	11	4	.	.	ENST00000591517.1:c.2201C>T	p.Pro734Leu	p.P734L	ENST00000591517	NM_007181.4	734	cCg/cTg	0	1	1	UPI00000747ED	0	NA	ENST00000591517		ENSG00000104814	6863		15	-0.325		HGNC	p.P734L		MAP4K1		SNV							ENST00000396857	protein_coding	getma.org/?cm=var&var=hg19,19,39086348,G,A&fts=all		PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF88,hmmpanther:PTHR24361,Pfam_domain:PF00780,PIRSF_domain:PIRSF038172,SMART_domains:SM00036		P/L		A	neutral	2230/2700		getma.org/?cm=msa&ty=f&p=M4K1_HUMAN&rb=505&re=797&var=P734L	tolerated(1)				YES	MAP4K1,missense_variant,p.Pro734Leu,ENST00000591517,NM_007181.4;MAP4K1,missense_variant,p.Pro730Leu,ENST00000589130,;MAP4K1,missense_variant,p.Pro734Leu,ENST00000396857,NM_001042600.1;MAP4K1,missense_variant,p.Pro438Leu,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,;							MODERATE	2201/2502	P734L	M4K1_HUMAN			Transcript		benign(0.022)	.	ENSP00000465039		CCDS59385.1			1	
IREB2	0	LGGM	GRCh37	15	78770631	78770637	+	splice_acceptor_variant,intron_variant	Splice_Site	DEL	CGTTTTA	CGTTTTA	-	novel	by Submitter	H104572	H104572N.bam	CGTTTTA	CGTTTTA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	10	5	.	.	ENST00000258886.8:c.1196-8_1196-2del		p.X399_splice	ENST00000258886	NM_004136.2			0	1	1	UPI00001C1F8E	0		ENST00000258886		ENSG00000136381	6115		15			HGNC	-		IREB2		deletion							-	protein_coding							-		-/6354				H0YLE0_HUMAN			YES	IREB2,splice_acceptor_variant,,ENST00000258886,NM_004136.2;IREB2,downstream_gene_variant,,ENST00000560440,;RP11-650L12.1,downstream_gene_variant,,ENST00000560094,;IREB2,splice_acceptor_variant,,ENST00000558570,;							HIGH	1196/2892		IREB2_HUMAN			Transcript			.	ENSP00000258886		CCDS10302.1			1	
TIMM9	0	LGGM	GRCh37	14	58878644	58878644	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	4	5	.	.	ENST00000395159.2:c.20A>C	p.Glu7Ala	p.E7A	ENST00000395159	NM_012460.2	7	gAa/gCa	0	1	1	UPI000003615F	0		ENST00000395159		ENSG00000100575	11819		9			HGNC	p.E7A		TIMM9		SNV							ENST00000555593	protein_coding			hmmpanther:PTHR10898		E/A		G		546/1336			tolerated(0.07)	G3V2F3_HUMAN			YES	TIMM9,missense_variant,p.Glu7Ala,ENST00000395159,NM_012460.2;TIMM9,missense_variant,p.Glu7Ala,ENST00000555593,;TIMM9,missense_variant,p.Glu7Ala,ENST00000556007,;TIMM9,missense_variant,p.Glu7Ala,ENST00000555061,;TIMM9,missense_variant,p.Glu7Ala,ENST00000555404,;TIMM9,missense_variant,p.Glu7Ala,ENST00000555097,;TOMM20L,downstream_gene_variant,,ENST00000360945,NM_207377.2;RP11-517O13.1,intron_variant,,ENST00000556734,;TIMM9,non_coding_transcript_exon_variant,,ENST00000556367,;TIMM9,non_coding_transcript_exon_variant,,ENST00000555930,;TIMM9,intron_variant,,ENST00000216463,;TIMM9,intron_variant,,ENST00000557397,;TOMM20L,downstream_gene_variant,,ENST00000557754,;							MODERATE	20/270		TIM9_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000378588		CCDS9735.1			1	
CCT3	0	LGGM	GRCh37	1	156279070	156279070	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	64	5	.	.	ENST00000295688.3:c.1558G>C	p.Asp520His	p.D520H	ENST00000295688	NM_005998.4	520	Gat/Cat	0	1	1	UPI000040EEFE	0	getma.org/pdb.php?prot=TCPG_HUMAN&from=33&to=527&var=D520H	ENST00000295688		ENSG00000163468	1616		69	4.825		HGNC	p.D475H		CCT3		SNV							ENST00000368261	protein_coding	getma.org/?cm=var&var=hg19,1,156279070,C,G&fts=all		Gene3D:1.10.560.10,Pfam_domain:PF00118,hmmpanther:PTHR11353,hmmpanther:PTHR11353:SF63,Superfamily_domains:SSF48592,TIGRFAM_domain:TIGR02344		D/H		G	high	1839/2150		getma.org/?cm=msa&ty=f&p=TCPG_HUMAN&rb=33&re=527&var=D520H	deleterious(0)	Q59H77_HUMAN,E9PQ35_HUMAN,B4DUR8_HUMAN			YES	CCT3,missense_variant,p.Asp520His,ENST00000295688,NM_005998.4;CCT3,missense_variant,p.Asp475His,ENST00000368261,;CCT3,missense_variant,p.Asp475His,ENST00000472765,;CCT3,missense_variant,p.Asp482His,ENST00000368259,NM_001008800.2;CCT3,3_prime_UTR_variant,,ENST00000368262,;CCT3,3_prime_UTR_variant,,ENST00000368258,;							MODERATE	1558/1638	D520H	TCPG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295688		CCDS1140.2			1	
MLLT3	0	LGGM	GRCh37	9	20456752	20456752	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	9	5	.	.	ENST00000380338.4:c.226T>A	p.Ser76Thr	p.S76T	ENST00000380338	NM_004529.2	76	Tct/Act	0	1	1	UPI00002111CB	0	getma.org/pdb.php?prot=AF9_HUMAN&from=29&to=112&var=S76T	ENST00000380338		ENSG00000171843	7136		14	0.57		HGNC	p.S76T		MLLT3		SNV			1				ENST00000380338	protein_coding	getma.org/?cm=var&var=hg19,9,20456752,A,T&fts=all		Pfam_domain:PF03366,PROSITE_profiles:PS51037,hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF25		S/T		T	neutral	513/6772		getma.org/?cm=msa&ty=f&p=AF9_HUMAN&rb=29&re=112&var=S76T	deleterious(0.04)	Q6LEQ8_HUMAN,B1APT5_HUMAN			YES	MLLT3,missense_variant,p.Ser76Thr,ENST00000380338,NM_004529.2;MLLT3,missense_variant,p.Ser73Thr,ENST00000429426,NM_001286691.1;MLLT3,5_prime_UTR_variant,,ENST00000355930,;MLLT3,intron_variant,,ENST00000475957,;							MODERATE	226/1707	S76T	AF9_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000369695		CCDS6494.1			1	
MED13	0	LGGM	GRCh37	17	60040294	60040294	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	64	6	.	.	ENST00000397786.2:c.4883G>C	p.Gly1628Ala	p.G1628A	ENST00000397786	NM_005121.2	1628	gGt/gCt	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474		70	1.995		HGNC	p.G1628A		MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60040294,C,G&fts=all		hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		G/A		G	medium	4960/10465		getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=1585&re=1639&var=G1628A	tolerated(0.56)				YES	MED13,missense_variant,p.Gly1628Ala,ENST00000397786,NM_005121.2;							MODERATE	4883/6525	G1628A	MED13_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000380888		CCDS42366.1			1	
CPXCR1	0	LGGM	GRCh37	X	88008688	88008688	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	1	6	.	.	ENST00000276127.4:c.273A>G	p.Leu91=	p.L91=	ENST00000276127	NM_033048.5	91	ctA/ctG	0	1	1	UPI000007369F	0		ENST00000276127		ENSG00000147183	2332		7			HGNC	p.L91L		CPXCR1		SNV							ENST00000276127	protein_coding			Low_complexity_(Seg):seg		L		G		532/1630							YES	CPXCR1,synonymous_variant,p.=,ENST00000276127,NM_033048.5;CPXCR1,synonymous_variant,p.=,ENST00000373111,NM_001184771.1;							LOW	273/906		CPXCR_HUMAN			Transcript			.	ENSP00000276127		CCDS14458.1			1	
MC4R	0	LGGM	GRCh37	18	58039209	58039209	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	71	6	.	.	ENST00000299766.3:c.374T>C	p.Ile125Thr	p.I125T	ENST00000299766	NM_005912.2	125	aTt/aCt	0	1	1	UPI000013E5E3	0	getma.org/pdb.php?prot=MC4R_HUMAN&from=61&to=302&var=I125T	ENST00000299766		ENSG00000166603	6932		77	0.865		HGNC	p.I125T		MC4R		SNV			1				ENST00000299766	protein_coding	getma.org/?cm=var&var=hg19,18,58039209,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00534		I/T		G	low	793/1438		getma.org/?cm=msa&ty=f&p=MC4R_HUMAN&rb=61&re=302&var=I125T	deleterious(0.03)	K4N7A9_HUMAN,A0N0W8_HUMAN			YES	MC4R,missense_variant,p.Ile125Thr,ENST00000299766,NM_005912.2;							MODERATE	374/999	I125T	MC4R_HUMAN			Transcript		possibly_damaging(0.673)	.	ENSP00000299766		CCDS11976.1			1	
TP53	0	LGGM	GRCh37	17	7577498	7577498	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	0	8	.	.	ENST00000269305.4:c.782+1G>T		p.X261_splice	ENST00000269305	NM_001126112.2			0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		8			HGNC	-	TP53_g.13420G>T,COSM44640,COSM98254,COSM473430,COSM473431,COSM98255,COSM3958806,COSM2744561	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000413465	protein_coding							A		-/2579				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			YES	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,,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,splice_donor_variant,,ENST00000510385,;TP53,splice_donor_variant,,ENST00000504290,;TP53,splice_donor_variant,,ENST00000504937,;TP53,downstream_gene_variant,,ENST00000505014,;					0,1,1,1,1,1,1,1		HIGH	782/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
PTAR1	0	LGGM	GRCh37	9	72356760	72356760	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	9	8	.	.	ENST00000340434.4:c.271A>G	p.Thr91Ala	p.T91A	ENST00000340434	NM_001099666.1	91	Aca/Gca	0	1	1	UPI00001D75C1	0	NA	ENST00000340434		ENSG00000188647	30449		17	1.12		HGNC	p.T91A		PTAR1		SNV							ENST00000340434	protein_coding	getma.org/?cm=var&var=hg19,9,72356760,T,C&fts=all		PROSITE_profiles:PS51147,hmmpanther:PTHR11129,hmmpanther:PTHR11129:SF3,Gene3D:1.25.40.120,Superfamily_domains:SSF48439		T/A		C	low	275/1417		getma.org/?cm=msa&ty=f&p=PTAR1_HUMAN&rb=1&re=120&var=T91A	deleterious(0.04)				YES	PTAR1,missense_variant,p.Thr91Ala,ENST00000340434,NM_001099666.1;PTAR1,intron_variant,,ENST00000377200,;PTAR1,non_coding_transcript_exon_variant,,ENST00000474925,;							MODERATE	271/1209	T91A	PTAR1_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000344299		CCDS47978.1			1	
CAMK2B	0	LGGM	GRCh37	7	44259831	44259831	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	11	8	.	.	ENST00000395749.2:c.1831G>T	p.Gly611Ter	p.G611*	ENST00000395749	NM_001220.4	611	Gga/Tga	0	1	1	UPI0000164A3E	0	NA	ENST00000395749		ENSG00000058404	1461		19	0		HGNC	p.G437X		CAMK2B		SNV							ENST00000347193	protein_coding	getma.org/?cm=var&var=hg19,7,44259831,C,A&fts=all		Superfamily_domains:SSF54427,Gene3D:3.10.450.50,Pfam_domain:PF08332,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF107		G/*		A	NA	1908/4447		NA		Q75LA8_HUMAN,Q75KE9_HUMAN,D3DVK8_HUMAN,A4D2J9_HUMAN			YES	CAMK2B,stop_gained,p.Gly611Ter,ENST00000395749,NM_001220.4;CAMK2B,stop_gained,p.Gly463Ter,ENST00000457475,NM_172080.2,NM_172079.2;CAMK2B,stop_gained,p.Gly487Ter,ENST00000350811,;CAMK2B,stop_gained,p.Gly487Ter,ENST00000440254,NM_172078.2;CAMK2B,stop_gained,p.Gly448Ter,ENST00000358707,NM_172081.2;CAMK2B,stop_gained,p.Gly462Ter,ENST00000258682,;CAMK2B,stop_gained,p.Gly424Ter,ENST00000353625,NM_172083.2;CAMK2B,stop_gained,p.Gly437Ter,ENST00000347193,NM_172082.2;CAMK2B,stop_gained,p.Gly463Ter,ENST00000395747,;CAMK2B,stop_gained,p.Gly394Ter,ENST00000346990,NM_172084.2;CAMK2B,stop_gained,p.Gly129Ter,ENST00000425809,;CAMK2B,3_prime_UTR_variant,,ENST00000502837,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000489429,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000497584,;CAMK2B,3_prime_UTR_variant,,ENST00000523845,;CAMK2B,3_prime_UTR_variant,,ENST00000353185,;CAMK2B,non_coding_transcript_exon_variant,,ENST00000466584,;							HIGH	1831/2001	G611*	KCC2B_HUMAN			Transcript			.	ENSP00000379098		CCDS5483.1			1	
GPR149	0	LGGM	GRCh37	3	154145454	154145454	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	17	8	.	.	ENST00000389740.2:c.1025C>G	p.Pro342Arg	p.P342R	ENST00000389740	NM_001038705.1	342	cCc/cGc	0	1	1	UPI00001AEEA9	0	NA	ENST00000389740		ENSG00000174948	23627		25	1.7		HGNC	p.P342R		GPR149		SNV							ENST00000389740	protein_coding	getma.org/?cm=var&var=hg19,3,154145454,G,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF32,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/R		C	low	1125/2323		getma.org/?cm=msa&ty=f&p=GP149_HUMAN&rb=52&re=361&var=P342R	tolerated(0.12)	Q2MKA6_HUMAN			YES	GPR149,missense_variant,p.Pro342Arg,ENST00000389740,NM_001038705.1;							MODERATE	1025/2196	P342R	GP149_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000374390		CCDS43162.1			1	
IPO11	0	LGGM	GRCh37	5	61846235	61846235	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	11	9	.	.	ENST00000409296.3:c.2412A>T	p.Pro804=	p.P804=	ENST00000409296	NM_001134779.1	804	ccA/ccT	0	1		UPI00000737DF	0		ENST00000325324		ENSG00000086200	20628		20			HGNC	p.P764P		IPO11		SNV							ENST00000424533	protein_coding			Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF7,Superfamily_domains:SSF48371		P		T		2461/4356				E7EMB7_HUMAN,D6RJB1_HUMAN,D6RCQ2_HUMAN,D6RCN7_HUMAN				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.=,ENST00000424533,;							LOW	2292/2928		IPO11_HUMAN			Transcript			.	ENSP00000316651		CCDS34167.1			1	
H1FX	0	LGGM	GRCh37	3	129034190	129034190	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	10	10	.	.	ENST00000333762.4:c.556G>T	p.Ala186Ser	p.A186S	ENST00000333762	NM_006026.3	186	Gcc/Tcc	0	1	1	UPI000012BF2F	0	NA	ENST00000333762		ENSG00000184897	4722		20	0.46		HGNC	p.A186S		H1FX		SNV							ENST00000333762	protein_coding	getma.org/?cm=var&var=hg19,3,129034190,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF21,hmmpanther:PTHR11467,Prints_domain:PR00624		A/S		A	neutral	931/1506		getma.org/?cm=msa&ty=f&p=H1X_HUMAN&rb=134&re=202&var=A186S	tolerated_low_confidence(0.1)				YES	H1FX,missense_variant,p.Ala186Ser,ENST00000333762,NM_006026.3;H1FX-AS1,upstream_gene_variant,,ENST00000383461,;H1FX-AS1,upstream_gene_variant,,ENST00000502789,;H1FX-AS1,upstream_gene_variant,,ENST00000511998,;H1FX-AS1,upstream_gene_variant,,ENST00000433902,;H1FX-AS1,upstream_gene_variant,,ENST00000537780,;							MODERATE	556/642	A186S	H1X_HUMAN			Transcript		unknown(0)	.	ENSP00000329662		CCDS3057.1			1	
PSKH2	0	LGGM	GRCh37	8	87076571	87076571	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	26	11	.	.	ENST00000276616.2:c.475G>C	p.Asp159His	p.D159H	ENST00000276616	NM_033126.1	159	Gat/Cat	0	1	1	UPI000006F951	0	getma.org/pdb.php?prot=KPSH2_HUMAN&from=63&to=320&var=D159H	ENST00000276616		ENSG00000147613	18997		37	1.175		HGNC	p.D159H	rs148422779,COSM98955	PSKH2		SNV	T:0					0,1	ENST00000276616	protein_coding	getma.org/?cm=var&var=hg19,8,87076571,C,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF135,hmmpanther:PTHR24347,Pfam_domain:PF00069,Gene3D:3.30.200.20,Superfamily_domains:SSF56112		D/H	T:0.0001	G	low	550/1322		getma.org/?cm=msa&ty=f&p=KPSH2_HUMAN&rb=63&re=320&var=D159H	deleterious(0)				YES	PSKH2,missense_variant,p.Asp159His,ENST00000276616,NM_033126.1;ATP6V0D2,intron_variant,,ENST00000521564,;PSKH2,non_coding_transcript_exon_variant,,ENST00000517981,;PSKH2,non_coding_transcript_exon_variant,,ENST00000523010,;	0.000231				0,1		MODERATE	475/1158	D159H	KPSH2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000276616	1.65E-05	CCDS6240.1			1	
PADI3	0	LGGM	GRCh37	1	17575722	17575722	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	7	11	.	.	ENST00000375460.3:c.90T>C	p.Tyr30=	p.Y30=	ENST00000375460	NM_016233.2	30	taT/taC	0	1	1	UPI000013D8A0	0		ENST00000375460		ENSG00000142619	18337		18			HGNC	p.Y30Y		PADI3		SNV							ENST00000375460	protein_coding			Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF2,Superfamily_domains:SSF49503		Y		C		130/3189							YES	PADI3,splice_region_variant,p.=,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,;							LOW	90/1995		PADI3_HUMAN			Transcript			.	ENSP00000364609		CCDS179.1			1	
ZNF609	0	LGGM	GRCh37	15	64970456	64970456	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	12	12	.	.	ENST00000326648.3:c.3544G>A	p.Asp1182Asn	p.D1182N	ENST00000326648	NM_015042.1	1182	Gat/Aat	0	1	1	UPI00001D7783	0	NA	ENST00000326648		ENSG00000180357	29003		24	1.735		HGNC	p.D1182N		ZNF609		SNV							ENST00000326648	protein_coding	getma.org/?cm=var&var=hg19,15,64970456,G,A&fts=all		hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3		D/N		A	low	3672/8743		getma.org/?cm=msa&ty=f&p=ZN609_HUMAN&rb=540&re=1409&var=D1182N	deleterious(0.01)				YES	ZNF609,missense_variant,p.Asp1182Asn,ENST00000326648,NM_015042.1;ZNF609,downstream_gene_variant,,ENST00000559364,;							MODERATE	3544/4236	D1182N	ZN609_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000316527		CCDS32270.1			1	
TCTN2	0	LGGM	GRCh37	12	124181714	124181714	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	31	12	.	.	ENST00000303372.5:c.1474G>A	p.Val492Ile	p.V492I	ENST00000303372	NM_024809.4	492	Gtc/Atc	0	1	1	UPI0000038A56	0	NA	ENST00000303372		ENSG00000168778	25774		43	2.34		HGNC	p.V491I		TCTN2		SNV			1				ENST00000426174	protein_coding	getma.org/?cm=var&var=hg19,12,124181714,G,A&fts=all		hmmpanther:PTHR14611,hmmpanther:PTHR14611:SF3		V/I		A	medium	1602/2910		getma.org/?cm=msa&ty=f&p=TECT2_HUMAN&rb=445&re=644&var=V492I	deleterious(0.04)				YES	TCTN2,missense_variant,p.Val492Ile,ENST00000303372,NM_024809.4,NM_001143850.2;TCTN2,missense_variant,p.Val491Ile,ENST00000426174,;TCTN2,non_coding_transcript_exon_variant,,ENST00000543998,;							MODERATE	1474/2094	V492I	TECT2_HUMAN			Transcript		benign(0.081)	.	ENSP00000304941		CCDS9253.1			1	
RNF180	0	LGGM	GRCh37	5	63509394	63509394	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	110	12	.	.	ENST00000389100.4:c.241A>G	p.Thr81Ala	p.T81A	ENST00000389100	NM_001113561.1	81	Aca/Gca	0	1	1	UPI0000141201	0	NA	ENST00000389100		ENSG00000164197	27752		122	1.965		HGNC	p.T81A		RNF180		SNV							ENST00000504296	protein_coding	getma.org/?cm=var&var=hg19,5,63509394,A,G&fts=all		hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF5		T/A		G	medium	313/4906		getma.org/?cm=msa&ty=f&p=RN180_HUMAN&rb=1&re=200&var=T81A	deleterious(0)	D6RE88_HUMAN			YES	RNF180,missense_variant,p.Thr81Ala,ENST00000389100,NM_001113561.1;RNF180,missense_variant,p.Thr81Ala,ENST00000296615,NM_178532.3;RNF180,missense_variant,p.Thr81Ala,ENST00000504296,;RNF180,intron_variant,,ENST00000381081,;							MODERATE	241/1779	T81A	RN180_HUMAN			Transcript		benign(0.207)	.	ENSP00000373752		CCDS47219.1			1	
SLC45A4	0	LGGM	GRCh37	8	142231783	142231783	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	10	13	.	.	ENST00000024061.3:c.170C>T	p.Ala57Val	p.A57V	ENST00000024061	NM_001080431.1	57	gCg/gTg	0	1	1	UPI0000237468	0	NA	ENST00000024061		ENSG00000022567	29196		23	1.34		HGNC	p.A39V	rs372360446	SLC45A4		SNV	A:0.0002			0.000194			ENST00000519986	protein_coding	getma.org/?cm=var&var=hg19,8,142231783,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19432:SF7,hmmpanther:PTHR19432,Gene3D:1.20.1250.20,Pfam_domain:PF13347,Superfamily_domains:SSF103473		A/V	A:0	A	low	478/3546		getma.org/?cm=msa&ty=f&p=S45A4_HUMAN&rb=51&re=269&var=A108V	tolerated(0.19)	E5RJM7_HUMAN			YES	SLC45A4,missense_variant,p.Ala57Val,ENST00000519067,NM_001286648.1;SLC45A4,missense_variant,p.Ala57Val,ENST00000024061,NM_001080431.1;SLC45A4,missense_variant,p.Ala108Val,ENST00000517878,;SLC45A4,missense_variant,p.Ala50Val,ENST00000433583,;SLC45A4,missense_variant,p.Ala39Val,ENST00000519986,;SLC45A4,5_prime_UTR_variant,,ENST00000520137,;							MODERATE	170/2397	A108V	S45A4_HUMAN			Transcript		benign(0.002)	.	ENSP00000024061	1.65E-05	CCDS34948.1			1	
PIGZ	0	LGGM	GRCh37	3	196674852	196674852	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	16	13	.	.	ENST00000412723.1:c.916C>A	p.Leu306Met	p.L306M	ENST00000412723	NM_025163.3	306	Ctg/Atg	0	1	1	UPI000013CA2C	0	NA	ENST00000412723		ENSG00000119227	30596		29	3.495		HGNC	p.L306M		PIGZ		SNV							ENST00000412723	protein_coding	getma.org/?cm=var&var=hg19,3,196674852,G,T&fts=all		Pfam_domain:PF03901,hmmpanther:PTHR22760,hmmpanther:PTHR22760:SF3		L/M		T	medium	1063/2701		getma.org/?cm=msa&ty=f&p=PIGZ_HUMAN&rb=37&re=474&var=L306M	deleterious(0)				YES	PIGZ,missense_variant,p.Leu306Met,ENST00000412723,NM_025163.3;PIGZ,3_prime_UTR_variant,,ENST00000413127,;PIGZ,downstream_gene_variant,,ENST00000443835,;NCBP2-AS2,downstream_gene_variant,,ENST00000602845,;PIGZ,downstream_gene_variant,,ENST00000238138,;							MODERATE	916/1740	L306M	PIGZ_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000413405		CCDS3324.1			1	
RAD51AP2	0	LGGM	GRCh37	2	17697418	17697418	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	12	13	.	.	ENST00000399080.2:c.2265A>T	p.Glu755Asp	p.E755D	ENST00000399080	NM_001099218.2	755	gaA/gaT	0	1	1	UPI0000418FD4	0	NA	ENST00000399080		ENSG00000214842	34417		25	0.805		HGNC	p.E755D		RAD51AP2		SNV							ENST00000399080	protein_coding	getma.org/?cm=var&var=hg19,2,17697418,T,A&fts=all				E/D		A	low	2289/3724		getma.org/?cm=msa&ty=f&p=R51A2_HUMAN&rb=1&re=1155&var=E755D	tolerated(0.1)				YES	RAD51AP2,missense_variant,p.Glu755Asp,ENST00000399080,NM_001099218.2;							MODERATE	2265/3480	E755D	R51A2_HUMAN			Transcript		benign(0.026)	.	ENSP00000382030		CCDS42656.1			1	
BAI3	0	LGGM	GRCh37	6	69758161	69758161	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	17	13	.	.	ENST00000370598.1:c.2192G>T	p.Trp731Leu	p.W731L	ENST00000370598	NM_001704.2	731	tGg/tTg	0	1	1	UPI00001AE6A9	0	getma.org/pdb.php?prot=BAI3_HUMAN&from=586&to=810&var=W731L	ENST00000370598		ENSG00000135298	945		30	1.04		HGNC	p.W731L		BAI3		SNV							ENST00000370598	protein_coding	getma.org/?cm=var&var=hg19,6,69758161,G,T&fts=all		Pfam_domain:PF12003,Prints_domain:PR01694,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40		W/L		T	low	3013/6010		getma.org/?cm=msa&ty=f&p=BAI3_HUMAN&rb=586&re=810&var=W731L	deleterious(0.01)	S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,missense_variant,p.Trp731Leu,ENST00000370598,NM_001704.2;							MODERATE	2192/4569	W731L	BAI3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000359630		CCDS4968.1			1	
DFFA	0	LGGM	GRCh37	1	10523492	10523492	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	31	13	.	.	ENST00000377038.3:c.627G>A	p.Gln209=	p.Q209=	ENST00000377038	NM_004401.2	209	caG/caA	0	1	1	UPI00001291FA	0		ENST00000377038		ENSG00000160049	2772		44			HGNC	p.Q209Q	rs759820339	DFFA		SNV							ENST00000377036	protein_coding			hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF16,Pfam_domain:PF09033,PIRSF_domain:PIRSF037865		Q		T		695/6032							YES	DFFA,synonymous_variant,p.=,ENST00000377038,NM_004401.2;DFFA,synonymous_variant,p.=,ENST00000377036,NM_213566.1;RP5-1113E3.3,downstream_gene_variant,,ENST00000424487,;DFFA,intron_variant,,ENST00000476658,;	0.000116						LOW	627/996		DFFA_HUMAN			Transcript			.	ENSP00000366237	8.24E-06	CCDS118.1			1	
RTTN	0	LGGM	GRCh37	18	67794955	67794955	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	8	14	.	.	ENST00000255674.6:c.3166T>C	p.Ser1056Pro	p.S1056P	ENST00000255674	NM_173630.3	1056	Tct/Cct	0	1	1	UPI0000201E92	0	NA	ENST00000255674		ENSG00000176225	18654		22	1.955		HGNC	p.S1056P		RTTN		SNV			1				ENST00000255674	protein_coding	getma.org/?cm=var&var=hg19,18,67794955,A,G&fts=all		hmmpanther:PTHR31691:SF1,hmmpanther:PTHR31691		S/P		G	medium	3453/7326		getma.org/?cm=msa&ty=f&p=RTTN_HUMAN&rb=2&re=2221&var=S1056P	deleterious(0)				YES	RTTN,missense_variant,p.Ser1056Pro,ENST00000255674,NM_173630.3;RTTN,missense_variant,p.Ser1056Pro,ENST00000437017,;RTTN,3_prime_UTR_variant,,ENST00000454359,;RTTN,3_prime_UTR_variant,,ENST00000581161,;RTTN,3_prime_UTR_variant,,ENST00000583043,;							MODERATE	3166/6681	S1056P	RTTN_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000255674		CCDS42443.1			1	
PCDH18	0	LGGM	GRCh37	4	138450933	138450933	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	1	15	.	.	ENST00000344876.4:c.2310C>A	p.Pro770=	p.P770=	ENST00000344876	NM_019035.3	770	ccC/ccA	0	1	1	UPI0000047A88	0		ENST00000344876		ENSG00000189184	14268		16			HGNC	p.P770P		PCDH18		SNV							ENST00000344876	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9		P		T		2697/5906				Q9NT87_HUMAN,B4DQ29_HUMAN			YES	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,;							LOW	2310/3408		PCD18_HUMAN			Transcript			.	ENSP00000355082		CCDS34064.1			1	
LRRN3	0	LGGM	GRCh37	7	110763108	110763108	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	21	15	.	.	ENST00000451085.1:c.280C>T	p.Leu94Phe	p.L94F	ENST00000451085	NM_001099660.1	94	Ctt/Ttt	0	1		UPI0000037517	0	NA	ENST00000308478		ENSG00000173114	17200		36	2.7		HGNC	p.L94F		LRRN3		SNV							ENST00000421101	protein_coding	getma.org/?cm=var&var=hg19,7,110763108,C,T&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00365,Gene3D:3.80.10.10,hmmpanther:PTHR24373:SF7,hmmpanther:PTHR24373,PROSITE_profiles:PS51450		L/F		T	medium	1219/3099		getma.org/?cm=msa&ty=f&p=LRRN3_HUMAN&rb=69&re=115&var=L94F	deleterious(0)	A4D0T1_HUMAN,E7EW58_HUMAN				LRRN3,missense_variant,p.Leu94Phe,ENST00000451085,NM_001099660.1;LRRN3,missense_variant,p.Leu94Phe,ENST00000422987,NM_018334.4;LRRN3,missense_variant,p.Leu94Phe,ENST00000308478,NM_001099658.1;LRRN3,missense_variant,p.Leu94Phe,ENST00000421101,;IMMP2L,intron_variant,,ENST00000405709,NM_032549.3;IMMP2L,intron_variant,,ENST00000331762,NM_001244606.1;IMMP2L,intron_variant,,ENST00000447215,;IMMP2L,intron_variant,,ENST00000452895,;IMMP2L,intron_variant,,ENST00000450877,;IMMP2L,intron_variant,,ENST00000415362,;IMMP2L,intron_variant,,ENST00000437687,;IMMP2L,intron_variant,,ENST00000489381,;							MODERATE	280/2127	L94F	LRRN3_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000312001		CCDS5754.1			1	
DNAH9	0	LGGM	GRCh37	17	11520938	11520938	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	6	16	.	.	ENST00000262442.4:c.1115A>T	p.Gln372Leu	p.Q372L	ENST00000262442	NM_001372.3	372	cAg/cTg	0	1	1	UPI0000141BA2	0	NA	ENST00000262442		ENSG00000007174	2953		22	1.795		HGNC	p.Q372L		DNAH9		SNV							ENST00000262442	protein_coding	getma.org/?cm=var&var=hg19,17,11520938,A,T&fts=all		hmmpanther:PTHR10676:SF36,hmmpanther:PTHR10676,Pfam_domain:PF08385		Q/L		T	low	1183/13750		getma.org/?cm=msa&ty=f&p=DYH9_HUMAN&rb=210&re=791&var=Q372L		Q92865_HUMAN			YES	DNAH9,missense_variant,p.Gln372Leu,ENST00000262442,NM_001372.3;DNAH9,missense_variant,p.Gln372Leu,ENST00000454412,;DNAH9,downstream_gene_variant,,ENST00000579828,;DNAH9,downstream_gene_variant,,ENST00000579602,;DNAH9,downstream_gene_variant,,ENST00000579813,;DNAH9,splice_region_variant,,ENST00000579406,;DNAH9,splice_region_variant,,ENST00000585197,;							MODERATE	1115/13461	Q372L	DYH9_HUMAN			Transcript		benign(0.029)	.	ENSP00000262442		CCDS11160.1			1	
KCNB2	0	LGGM	GRCh37	8	73848302	73848302	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	19	16	.	.	ENST00000523207.1:c.712G>A	p.Ala238Thr	p.A238T	ENST00000523207	NM_004770.2	238	Gct/Act	0	1	1	UPI000012DC85	0	getma.org/pdb.php?prot=KCNB2_HUMAN&from=235&to=416&var=A238T	ENST00000523207		ENSG00000182674	6232		35	-0.32		HGNC	p.A238T		KCNB2		SNV							ENST00000523207	protein_coding	getma.org/?cm=var&var=hg19,8,73848302,G,A&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		A/T		A	neutral	1300/3582		getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=235&re=416&var=A238T	deleterious(0.04)				YES	KCNB2,missense_variant,p.Ala238Thr,ENST00000523207,NM_004770.2;							MODERATE	712/2736	A238T	KCNB2_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000430846		CCDS6209.1			1	
SLC10A4	0	LGGM	GRCh37	4	48490700	48490700	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	5	17	.	.	ENST00000273861.4:c.1058C>A	p.Pro353Gln	p.P353Q	ENST00000273861	NM_152679.3	353	cCa/cAa	0	1	1	UPI000006E8DB	0	NA	ENST00000273861		ENSG00000145248	22980		22	2.65		HGNC	p.P353Q		SLC10A4		SNV							ENST00000273861	protein_coding	getma.org/?cm=var&var=hg19,4,48490700,C,A&fts=all		hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF20		P/Q		A	medium	1277/1790		getma.org/?cm=msa&ty=f&p=NTCP4_HUMAN&rb=290&re=437&var=P353Q	deleterious(0)				YES	SLC10A4,missense_variant,p.Pro353Gln,ENST00000273861,NM_152679.3;ZAR1,upstream_gene_variant,,ENST00000327939,NM_175619.2;							MODERATE	1058/1314	P353Q	NTCP4_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000273861		CCDS3482.1			1	
MYO5C	0	LGGM	GRCh37	15	52539761	52539761	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	20	18	.	.	ENST00000261839.7:c.1775A>G	p.Glu592Gly	p.E592G	ENST00000261839	NM_018728.3	592	gAa/gGa	0	1	1	UPI000013D20E	0	getma.org/pdb.php?prot=MYO5C_HUMAN&from=69&to=741&var=E592G	ENST00000261839		ENSG00000128833	7604		38	1.825		HGNC	p.E592G		MYO5C		SNV							ENST00000261839	protein_coding	getma.org/?cm=var&var=hg19,15,52539761,T,C&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		E/G		C	low	1937/6971		getma.org/?cm=msa&ty=f&p=MYO5C_HUMAN&rb=69&re=741&var=E592G	deleterious(0.03)	Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,missense_variant,p.Glu592Gly,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,;MYO5C,downstream_gene_variant,,ENST00000559459,;MYO5C,downstream_gene_variant,,ENST00000558242,;							MODERATE	1775/5229	E592G	MYO5C_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000261839		CCDS42036.1			1	
PCLO	0	LGGM	GRCh37	7	82538193	82538193	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	30	19	.	.	ENST00000333891.9:c.13437A>C	p.Gln4479His	p.Q4479H	ENST00000333891	NM_033026.5	4479	caA/caC	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		49	1.61		HGNC	p.Q4479H		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82538193,T,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		Q/H		G	low	13775/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=Q4410H					YES	PCLO,missense_variant,p.Gln4479His,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Gln4479His,ENST00000423517,NM_014510.2;							MODERATE	13437/15429	Q4410H	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
KIF21A	0	LGGM	GRCh37	12	39696793	39696793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	20	19	.	.	ENST00000361418.5:c.4705G>A	p.Asp1569Asn	p.D1569N	ENST00000361418		1569	Gac/Aac	0	1	1	UPI0000212ED9	0	NA	ENST00000361418		ENSG00000139116	19349		39	1.54		HGNC	p.D1516N		KIF21A		SNV			1				ENST00000541463	protein_coding	getma.org/?cm=var&var=hg19,12,39696793,C,T&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF398,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/N		T	low	4721/5044		getma.org/?cm=msa&ty=f&p=KI21A_HUMAN&rb=1524&re=1574&var=D1569N	deleterious(0.03)				YES	KIF21A,missense_variant,p.Asp1570Asn,ENST00000395670,;KIF21A,missense_variant,p.Asp1556Asn,ENST00000361961,NM_017641.3,NM_001173464.1;KIF21A,missense_variant,p.Asp1569Asn,ENST00000361418,;KIF21A,missense_variant,p.Asp1532Asn,ENST00000544797,NM_001173463.1;KIF21A,missense_variant,p.Asp1516Asn,ENST00000541463,NM_001173465.1;KIF21A,missense_variant,p.Asp870Asn,ENST00000552961,;KIF21A,missense_variant,p.Asp550Asn,ENST00000551264,;KIF21A,non_coding_transcript_exon_variant,,ENST00000547733,;							MODERATE	4705/5025	D1569N	KI21A_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000354878		CCDS53776.1			1	
SLC12A6	0	LGGM	GRCh37	15	34532935	34532935	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	27	19	.	.	ENST00000354181.3:c.2363G>T	p.Gly788Val	p.G788V	ENST00000354181		788	gGt/gTt	0	1	1	UPI0000135427	0	NA	ENST00000354181		ENSG00000140199	10914		46	3.735		HGNC	p.G788V		SLC12A6		SNV			1				ENST00000354181	protein_coding	getma.org/?cm=var&var=hg19,15,34532935,C,A&fts=all		hmmpanther:PTHR11827:SF51,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930		G/V		A	high	2856/4568		getma.org/?cm=msa&ty=f&p=S12A6_HUMAN&rb=762&re=961&var=G788V	deleterious(0)	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	SLC12A6,missense_variant,p.Gly788Val,ENST00000354181,;SLC12A6,missense_variant,p.Gly729Val,ENST00000458406,NM_001042494.1;SLC12A6,missense_variant,p.Gly788Val,ENST00000560611,NM_133647.1;SLC12A6,missense_variant,p.Gly773Val,ENST00000397707,NM_001042497.1;SLC12A6,missense_variant,p.Gly729Val,ENST00000397702,NM_001042495.1;SLC12A6,missense_variant,p.Gly779Val,ENST00000558589,NM_001042496.1;SLC12A6,missense_variant,p.Gly737Val,ENST00000290209,NM_005135.2;SLC12A6,missense_variant,p.Gly600Val,ENST00000560164,;SLC12A6,missense_variant,p.Gly788Val,ENST00000558667,;SLC12A6,missense_variant,p.Gly600Val,ENST00000451844,;SLC12A6,missense_variant,p.Gly788Val,ENST00000561080,;SLC12A6,missense_variant,p.Gly788Val,ENST00000559664,;SLC12A6,missense_variant,p.Gly729Val,ENST00000559523,;SLC12A6,non_coding_transcript_exon_variant,,ENST00000558950,;SLC12A6,upstream_gene_variant,,ENST00000559076,;SLC12A6,downstream_gene_variant,,ENST00000560023,;SLC12A6,upstream_gene_variant,,ENST00000559441,;							MODERATE	2363/3453	G788V	S12A6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346112		CCDS58352.1			1	
MARK1	0	LGGM	GRCh37	1	220826454	220826454	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	34	19	.	.	ENST00000366917.4:c.1748G>T	p.Arg583Ile	p.R583I	ENST00000366917	NM_001286124.1	583	aGa/aTa	0	1	1	UPI0000048D8B	0	NA	ENST00000366917		ENSG00000116141	6896		53	2.725		HGNC	p.R583I		MARK1		SNV							ENST00000366917	protein_coding	getma.org/?cm=var&var=hg19,1,220826454,G,T&fts=all		hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346		R/I		T	medium	2014/2946		getma.org/?cm=msa&ty=f&p=MARK1_HUMAN&rb=512&re=711&var=R583I	tolerated(0.05)	B4DIB3_HUMAN			YES	MARK1,missense_variant,p.Arg448Ile,ENST00000402574,NM_018650.3,NM_001286126.1;MARK1,missense_variant,p.Arg561Ile,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Arg583Ile,ENST00000366917,NM_001286124.1;							MODERATE	1748/2388	R583I	MARK1_HUMAN			Transcript		benign(0.266)	.	ENSP00000355884		CCDS31029.2			1	
KRTAP4-2	0	LGGM	GRCh37	17	39334114	39334114	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	29	19	.	.	ENST00000377726.2:c.303C>T	p.Cys101=	p.C101=	ENST00000377726	NM_033062.3	101	tgC/tgT	0	1	1	UPI0000246F2E	0		ENST00000377726		ENSG00000244537	18900		48			HGNC	p.C101C		KRTAP4-2		SNV							ENST00000377726	protein_coding			Pfam_domain:PF13885,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF43		C		A		347/763							YES	KRTAP4-2,synonymous_variant,p.=,ENST00000377726,NM_033062.3;							LOW	303/411		KRA42_HUMAN			Transcript			.	ENSP00000366955		CCDS11384.1			1	
HECW2	0	LGGM	GRCh37	2	197157319	197157319	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	29	19	.	.	ENST00000260983.3:c.2970A>G	p.Gly990=	p.G990=	ENST00000260983	NM_020760.1	990	ggA/ggG	0	1	1	UPI00001A75E8	0		ENST00000260983		ENSG00000138411	29853		48			HGNC	p.G990G		HECW2		SNV							ENST00000260983	protein_coding			PROSITE_profiles:PS50020,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254,Gene3D:2.20.70.10,Pfam_domain:PF00397,SMART_domains:SM00456,Superfamily_domains:SSF51045		G		C		3153/11809				C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.1;HECW2,synonymous_variant,p.=,ENST00000409111,;RN7SL820P,downstream_gene_variant,,ENST00000583941,;							LOW	2970/4719		HECW2_HUMAN			Transcript			.	ENSP00000260983		CCDS33354.1			1	
ZNF384	0	LGGM	GRCh37	12	6777245	6777245	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	25	20	.	.	ENST00000396801.3:c.1369C>T	p.Pro457Ser	p.P457S	ENST00000396801	NM_001135734.2	457	Ccg/Tcg	0	1		UPI00001AE6F8	0	NA	ENST00000361959		ENSG00000126746	11955		45	-0.1		HGNC	p.P457S		ZNF384		SNV							ENST00000396801	protein_coding	getma.org/?cm=var&var=hg19,12,6777245,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF332		P/S		A	neutral	1629/2978		getma.org/?cm=msa&ty=f&p=ZN384_HUMAN&rb=426&re=504&var=P457S	tolerated(0.08)	F5H3Z9_HUMAN,F5H105_HUMAN,F5H0D6_HUMAN,F5GYZ1_HUMAN,D3DUR9_HUMAN,B4DQU6_HUMAN,A9X425_HUMAN				ZNF384,missense_variant,p.Pro396Ser,ENST00000396795,;ZNF384,missense_variant,p.Pro380Ser,ENST00000319770,;ZNF384,missense_variant,p.Pro457Ser,ENST00000396801,NM_001135734.2;ZNF384,missense_variant,p.Pro457Ser,ENST00000361959,;ZNF384,missense_variant,p.Pro341Ser,ENST00000355772,NM_001039920.2;ZNF384,missense_variant,p.Pro396Ser,ENST00000396799,NM_133476.4;ZNF384,intron_variant,,ENST00000545946,;ING4,upstream_gene_variant,,ENST00000341550,;ING4,upstream_gene_variant,,ENST00000396807,NM_001127586.1,NM_001127582.1,NM_001127585.1,NM_016162.3;ING4,upstream_gene_variant,,ENST00000446105,NM_001127583.1,NM_001127584.1;ZNF384,downstream_gene_variant,,ENST00000417772,;ING4,upstream_gene_variant,,ENST00000412586,;ING4,upstream_gene_variant,,ENST00000444704,;ING4,upstream_gene_variant,,ENST00000423703,;ING4,upstream_gene_variant,,ENST00000467678,;ING4,upstream_gene_variant,,ENST00000493873,;RP4-761J14.8,non_coding_transcript_exon_variant,,ENST00000586338,;RP4-761J14.8,downstream_gene_variant,,ENST00000589924,;ING4,upstream_gene_variant,,ENST00000437149,;ING4,upstream_gene_variant,,ENST00000488381,;ING4,upstream_gene_variant,,ENST00000472002,;ING4,upstream_gene_variant,,ENST00000479301,;ZNF384,downstream_gene_variant,,ENST00000542519,;ING4,upstream_gene_variant,,ENST00000469749,;ZNF384,downstream_gene_variant,,ENST00000537383,;ING4,upstream_gene_variant,,ENST00000493267,;							MODERATE	1369/1734	P457S	ZN384_HUMAN			Transcript		benign(0.05)	.	ENSP00000354592		CCDS44817.1			1	
GPR55	0	LGGM	GRCh37	2	231775253	231775253	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	19	20	.	.	ENST00000392040.1:c.425G>A	p.Cys142Tyr	p.C142Y	ENST00000392040	NM_005683.3	142	tGc/tAc	0	1		UPI000006D64F	0	getma.org/pdb.php?prot=GPR55_HUMAN&from=37&to=288&var=C142Y	ENST00000392039		ENSG00000135898	4511		39	2.59		HGNC	p.C142Y		GPR55		SNV							ENST00000392040	protein_coding	getma.org/?cm=var&var=hg19,2,231775253,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24232:SF8,hmmpanther:PTHR24232,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		C/Y		T	medium	851/1523		getma.org/?cm=msa&ty=f&p=GPR55_HUMAN&rb=37&re=288&var=C142Y	deleterious(0)	C9J1P7_HUMAN,A8K858_HUMAN				GPR55,missense_variant,p.Cys142Tyr,ENST00000392040,NM_005683.3;GPR55,missense_variant,p.Cys142Tyr,ENST00000392039,;GPR55,missense_variant,p.Cys142Tyr,ENST00000438398,;AC012507.4,downstream_gene_variant,,ENST00000454890,;GPR55,missense_variant,p.Cys142Tyr,ENST00000444078,;							MODERATE	425/960	C142Y	GPR55_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000375893		CCDS2480.1			1	
PHKA2	0	LGGM	GRCh37	X	18961869	18961869	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	35	21	.	.	ENST00000379942.4:c.676T>G	p.Ser226Ala	p.S226A	ENST00000379942	NM_000292.2	226	Tca/Gca	0	1	1	UPI000012DF4B	0	NA	ENST00000379942		ENSG00000044446	8926		56	2.115		HGNC	p.S226A		PHKA2		SNV			1				ENST00000379942	protein_coding	getma.org/?cm=var&var=hg19,X,18961869,A,C&fts=all		hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF5,Pfam_domain:PF00723,Superfamily_domains:SSF48208		S/A		C	medium	1342/5559		getma.org/?cm=msa&ty=f&p=KPB2_HUMAN&rb=8&re=919&var=S226A	deleterious(0.01)				YES	PHKA2,missense_variant,p.Ser226Ala,ENST00000379942,NM_000292.2;							MODERATE	676/3708	S226A	KPB2_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000369274		CCDS14190.1			1	
PIF1	0	LGGM	GRCh37	15	65108072	65108072	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	15	21	.	.	ENST00000268043.4:c.*425C>T		*142*	ENST00000268043				0	1	1	UPI00005EDD9F	0		ENST00000268043		ENSG00000140451	26220		36			HGNC	p.L648F		PIF1		SNV							ENST00000333425	protein_coding							A		2446/2687				B2RPL7_HUMAN			YES	PIF1,missense_variant,p.Leu648Phe,ENST00000333425,NM_001286497.1;PIF1,3_prime_UTR_variant,,ENST00000268043,;PIF1,3_prime_UTR_variant,,ENST00000559239,NM_025049.2,NM_001286499.1,NM_001286496.1;PIF1,downstream_gene_variant,,ENST00000558380,;PIF1,downstream_gene_variant,,ENST00000559522,;PIF1,downstream_gene_variant,,ENST00000559872,;							MODIFIER	-/1926		PIF1_HUMAN			Transcript			.	ENSP00000268043		CCDS10195.2			1	
DLGAP2	0	LGGM	GRCh37	8	1581015	1581015	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	32	21	.	.	ENST00000421627.2:c.1373G>A	p.Gly458Glu	p.G458E	ENST00000421627	NM_004745.4	458	gGg/gAg	0	1	1	UPI000021BFBC	0	NA	ENST00000421627		ENSG00000198010	2906		53	2.35		HGNC	p.G458E		DLGAP2		SNV							ENST00000421627	protein_coding	getma.org/?cm=var&var=hg19,8,1581015,G,A&fts=all		hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3		G/E		A	medium	1507/10132		getma.org/?cm=msa&ty=f&p=DLGP2_HUMAN&rb=401&re=600&var=G537E	tolerated(0.18)				YES	DLGAP2,missense_variant,p.Gly458Glu,ENST00000421627,NM_004745.4,NM_001277161.1;DLGAP2,missense_variant,p.Gly475Glu,ENST00000520901,;							MODERATE	1373/2928	G537E	DLGP2_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000400258		CCDS47760.1			1	
TRIML1	0	LGGM	GRCh37	4	189060728	189060728	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	2	22	.	.	ENST00000332517.3:c.16C>A	p.Leu6Met	p.L6M	ENST00000332517	NM_178556.3	6	Ctg/Atg	0	1	1	UPI000006FC8A	0	getma.org/pdb.php?prot=TRIML_HUMAN&from=1&to=11&var=L6M	ENST00000332517		ENSG00000184108	26698		24	0.3		HGNC	p.L6M		TRIML1		SNV							ENST00000332517	protein_coding	getma.org/?cm=var&var=hg19,4,189060728,C,A&fts=all		Gene3D:3.30.40.10,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF291,Superfamily_domains:SSF57850		L/M		A	neutral	156/1797		getma.org/?cm=msa&ty=f&p=TRIML_HUMAN&rb=1&re=41&var=L6M	deleterious(0.01)				YES	TRIML1,missense_variant,p.Leu6Met,ENST00000332517,NM_178556.3;RP11-366H4.3,downstream_gene_variant,,ENST00000501322,;TRIML1,upstream_gene_variant,,ENST00000507581,;TRIML1,upstream_gene_variant,,ENST00000512233,;							MODERATE	16/1407	L6M	TRIML_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000327738		CCDS3851.1			1	
NLRP3	0	LGGM	GRCh37	1	247587658	247587658	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	36	23	.	.	ENST00000336119.3:c.913G>T	p.Asp305Tyr	p.D305Y	ENST00000336119	NM_001127462.2	305	Gat/Tat	0	1	1	UPI00001CE3AD	0	NA	ENST00000336119		ENSG00000162711	16400		59	3.68		HGNC	p.D305Y		NLRP3		SNV			1				ENST00000391827	protein_coding	getma.org/?cm=var&var=hg19,1,247587658,G,T&fts=all		Pfam_domain:PF05729,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF4,Superfamily_domains:SSF52540		D/Y		T	high	1659/4170		getma.org/?cm=msa&ty=f&p=NALP3_HUMAN&rb=220&re=389&var=D305Y	deleterious(0)	Q65Z67_HUMAN,B7ZKS9_HUMAN			YES	NLRP3,missense_variant,p.Asp305Tyr,ENST00000366497,NM_001127461.2;NLRP3,missense_variant,p.Asp305Tyr,ENST00000336119,NM_001127462.2,NM_004895.4,NM_001243133.1;NLRP3,missense_variant,p.Asp305Tyr,ENST00000366496,;NLRP3,missense_variant,p.Asp305Tyr,ENST00000391828,NM_001079821.2;NLRP3,missense_variant,p.Asp305Tyr,ENST00000348069,NM_183395.2;NLRP3,missense_variant,p.Asp305Tyr,ENST00000391827,;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,;							MODERATE	913/3111	D305Y	NALP3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337383		CCDS1632.1			1	
ZKSCAN8	0	LGGM	GRCh37	6	28121347	28121347	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	29	23	.	.	ENST00000330236.6:c.1289G>T	p.Gly430Val	p.G430V	ENST00000330236	NM_001278122.1	430	gGa/gTa	0	1	1	UPI000013D073	0	getma.org/pdb.php?prot=ZN192_HUMAN&from=420&to=445&var=G430V	ENST00000330236		ENSG00000198315	12983		52	1.155		HGNC	p.G430V		ZKSCAN8		SNV							ENST00000330236	protein_coding	getma.org/?cm=var&var=hg19,6,28121347,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF64,Superfamily_domains:SSF57667		G/V		T	low	1473/7376		getma.org/?cm=msa&ty=f&p=ZN192_HUMAN&rb=400&re=465&var=G430V	deleterious(0)				YES	ZKSCAN8,missense_variant,p.Gly430Val,ENST00000330236,NM_001278122.1,NM_006298.3,NM_001278121.1;ZKSCAN8,missense_variant,p.Gly430Val,ENST00000457389,NM_001278119.1;ZKSCAN8,3_prime_UTR_variant,,ENST00000606198,;ZKSCAN8,downstream_gene_variant,,ENST00000536028,;							MODERATE	1289/1737	G430V	ZKSC8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000332750		CCDS4645.1			1	
OR52J3	0	LGGM	GRCh37	11	5068032	5068032	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	13	25	.	.	ENST00000380370.1:c.277G>T	p.Glu93Ter	p.E93*	ENST00000380370	NM_001001916.2	93	Gag/Tag	0	1	1	UPI0000046AE0	0	NA	ENST00000380370		ENSG00000205495	14799		38	0		HGNC	p.E93X		OR52J3		SNV							ENST00000380370	protein_coding	getma.org/?cm=var&var=hg19,11,5068032,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF9,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		E/*		T	NA	277/936		NA					YES	OR52J3,stop_gained,p.Glu93Ter,ENST00000380370,NM_001001916.2;							HIGH	277/936	E93*	O52J3_HUMAN			Transcript			.	ENSP00000369728		CCDS31370.1			1	
STARD9	0	LGGM	GRCh37	15	42977540	42977540	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	24	25	.	.	ENST00000290607.7:c.3764G>T	p.Gly1255Val	p.G1255V	ENST00000290607	NM_020759.2	1255	gGt/gTt	0	1	1	UPI0001BE8155	0	NA	ENST00000290607		ENSG00000159433	19162		49	1.525		HGNC	p.G1255V		STARD9		SNV							ENST00000290607	protein_coding	getma.org/?cm=var&var=hg19,15,42977540,G,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF323		G/V		T	low	3821/15567		getma.org/?cm=msa&ty=f&p=STAR9_HUMAN&rb=762&re=3238&var=G1255V		B4DMS6_HUMAN			YES	STARD9,missense_variant,p.Gly1255Val,ENST00000290607,NM_020759.2;STARD9,downstream_gene_variant,,ENST00000569419,;STARD9,upstream_gene_variant,,ENST00000562619,;STARD9,downstream_gene_variant,,ENST00000562139,;							MODERATE	3764/14103	G1255V	STAR9_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000290607		CCDS53935.1			1	
IFITM2	0	LGGM	GRCh37	11	309074	309074	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	47	25	.	.	ENST00000399817.4:c.308A>C	p.Lys103Thr	p.K103T	ENST00000399817	NM_006435.2	103	aAg/aCg	0	1	1	UPI00001AF520	0	NA	ENST00000399817		ENSG00000185201	5413		72	3.205		HGNC	p.K103T		IFITM2		SNV							ENST00000399817	protein_coding	getma.org/?cm=var&var=hg19,11,309074,A,C&fts=all		Pfam_domain:PF04505,hmmpanther:PTHR13999:SF8,hmmpanther:PTHR13999		K/T		C	medium	338/659		getma.org/?cm=msa&ty=f&p=IFM2_HUMAN&rb=40&re=121&var=K103T	deleterious(0.01)	E9PQN9_HUMAN			YES	IFITM2,missense_variant,p.Lys103Thr,ENST00000399817,NM_006435.2;IFITM2,missense_variant,p.Lys83Thr,ENST00000602569,;IFITM2,missense_variant,p.Lys83Thr,ENST00000533141,;IFITM2,intron_variant,,ENST00000399815,;IFITM1,upstream_gene_variant,,ENST00000408968,NM_003641.3;IFITM1,upstream_gene_variant,,ENST00000328221,;IFITM1,upstream_gene_variant,,ENST00000528780,;RP11-326C3.7,downstream_gene_variant,,ENST00000526612,;IFITM2,3_prime_UTR_variant,,ENST00000527146,;RP11-326C3.4,upstream_gene_variant,,ENST00000533113,;							MODERATE	308/399	K103T	IFM2_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000382714		CCDS41583.1			1	
KIAA1377	0	LGGM	GRCh37	11	101829053	101829053	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	48	26	.	.	ENST00000263468.8:c.661G>T	p.Glu221Ter	p.E221*	ENST00000263468	NM_020802.2	221	Gaa/Taa	0	1	1	UPI0000160A3D	0	NA	ENST00000263468		ENSG00000110318	29264		74	0		HGNC	p.E221X		KIAA1377		SNV			1				ENST00000263468	protein_coding	getma.org/?cm=var&var=hg19,11,101829053,G,T&fts=all		Pfam_domain:PF15352,hmmpanther:PTHR31191,Low_complexity_(Seg):seg		E/*		T	NA	931/7039		NA		F5H5S1_HUMAN			YES	KIAA1377,stop_gained,p.Glu221Ter,ENST00000263468,NM_020802.2;KIAA1377,stop_gained,p.Glu22Ter,ENST00000537689,;KIAA1377,3_prime_UTR_variant,,ENST00000532529,;							HIGH	661/3354	E221*	K1377_HUMAN			Transcript			.	ENSP00000263468		CCDS31658.1			1	
OR10D3	0	LGGM	GRCh37	11	124056305	124056305	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	61	28	.	.	ENST00000318666.6:c.329T>C	p.Ile110Thr	p.I110T	ENST00000318666		110	aTt/aCt	0	1	1	UPI000004B22A	0		ENST00000318666		ENSG00000197309	8168		89			HGNC	p.I110T	rs570743778	OR10D3		SNV							ENST00000318666	protein_coding		C:0	Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF221,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/T		C		383/1030			tolerated(1)		C:0	C:0.001	YES	OR10D3,missense_variant,p.Ile110Thr,ENST00000318666,;		C:0.0002					MODERATE	329/939		O10D3_HUMAN		C:0	Transcript		benign(0)	.	ENSP00000323895				C:0	1	
GALC	0	LGGM	GRCh37	14	88401145	88401145	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	6	29	.	.	ENST00000261304.2:c.1989G>T	p.Trp663Cys	p.W663C	ENST00000261304	NM_000153.3	663	tgG/tgT	0	1	1	UPI00001FD982	0	getma.org/pdb.php?prot=GALC_HUMAN&from=17&to=685&var=W663C	ENST00000261304		ENSG00000054983	4115		35	2.86		HGNC	p.W637C		GALC		SNV			1				ENST00000393569	protein_coding	getma.org/?cm=var&var=hg19,14,88401145,C,A&fts=all		Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1		W/C		A	medium	2096/3883		getma.org/?cm=msa&ty=f&p=GALC_HUMAN&rb=17&re=685&var=W663C	deleterious(0)				YES	GALC,missense_variant,p.Trp663Cys,ENST00000261304,NM_000153.3,NM_001201401.1;GALC,missense_variant,p.Trp637Cys,ENST00000393569,NM_001201402.1;GALC,missense_variant,p.Trp640Cys,ENST00000393568,;GALC,intron_variant,,ENST00000544807,;GALC,3_prime_UTR_variant,,ENST00000555179,;GALC,intron_variant,,ENST00000555000,;							MODERATE	1989/2058	W663C	GALC_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000261304		CCDS9878.2			1	
TLR8	0	LGGM	GRCh37	X	12937947	12937947	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	0	29	.	.	ENST00000218032.6:c.788C>A	p.Ala263Asp	p.A263D	ENST00000218032	NM_138636.4	263	gCc/gAc	0	1	1	UPI000004BAFC	0	NA	ENST00000218032		ENSG00000101916	15632		29	2.865		HGNC	p.A263D		TLR8		SNV							ENST00000218032	protein_coding	getma.org/?cm=var&var=hg19,X,12937947,C,A&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF227,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		A/D		A	medium	875/4216		getma.org/?cm=msa&ty=f&p=TLR8_HUMAN&rb=246&re=275&var=A263D	deleterious(0)	Q8NC00_HUMAN,B4DLJ2_HUMAN			YES	TLR8,missense_variant,p.Ala263Asp,ENST00000218032,NM_138636.4;TLR8,missense_variant,p.Ala281Asp,ENST00000311912,;							MODERATE	788/3126	A263D	TLR8_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000218032		CCDS14152.1			1	
PCSK1	0	LGGM	GRCh37	5	95728905	95728905	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	28	29	.	.	ENST00000311106.3:c.2062T>C	p.Ser688Pro	p.S688P	ENST00000311106	NM_000439.4	688	Tcc/Ccc	0	1	1	UPI000013F0F5	0	NA	ENST00000311106		ENSG00000175426	8743		57	0.69		HGNC	p.S688P	rs774690560	PCSK1	6.06E-05	SNV			1				ENST00000311106	protein_coding	getma.org/?cm=var&var=hg19,5,95728905,A,G&fts=all		Low_complexity_(Seg):seg		S/P		G	neutral	2300/5086		getma.org/?cm=msa&ty=f&p=NEC1_HUMAN&rb=592&re=711&var=S688P	tolerated_low_confidence(0.19)	D6RJA3_HUMAN			YES	PCSK1,missense_variant,p.Ser688Pro,ENST00000311106,NM_000439.4,NM_001177876.1;PCSK1,missense_variant,p.Ser641Pro,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;							MODERATE	2062/2262	S688P	NEC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000308024	8.24E-06	CCDS4081.1			1	
ENAM	0	LGGM	GRCh37	4	71507922	71507922	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	67	38	.	.	ENST00000396073.3:c.779G>A	p.Gly260Glu	p.G260E	ENST00000396073	NM_031889.2	260	gGg/gAg	0	1	1	UPI000013CE60	0	NA	ENST00000396073		ENSG00000132464	3344		105	2.6		HGNC	p.G260E		ENAM		SNV			1				ENST00000396073	protein_coding	getma.org/?cm=var&var=hg19,4,71507922,G,A&fts=all		Pfam_domain:PF15362,hmmpanther:PTHR16784,hmmpanther:PTHR16784:SF2		G/E		A	medium	1060/5679		getma.org/?cm=msa&ty=f&p=ENAM_HUMAN&rb=201&re=400&var=G260E	deleterious(0)	Q8NFB4_HUMAN			YES	ENAM,missense_variant,p.Gly260Glu,ENST00000396073,NM_031889.2;ENAM,intron_variant,,ENST00000472903,;ENAM,non_coding_transcript_exon_variant,,ENST00000472597,;							MODERATE	779/3429	G260E	ENAM_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000379383		CCDS3544.2			1	
PRKDC	0	LGGM	GRCh37	8	48825120	48825120	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	T	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	66	38	.	.	ENST00000314191.2:c.2784T>A	p.Val928=	p.V928=	ENST00000314191	NM_006904.6	928	gtT/gtA	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		104			HGNC	p.V928V		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		V		T		2841/13506				F5GX40_HUMAN			YES	PRKDC,splice_region_variant,p.=,ENST00000314191,NM_006904.6;PRKDC,splice_region_variant,p.=,ENST00000338368,NM_001081640.1;PRKDC,splice_region_variant,,ENST00000523565,;PRKDC,splice_region_variant,,ENST00000518216,;							LOW	2784/12384		PRKDC_HUMAN			Transcript			.	ENSP00000313420					1	
CHD7	0	LGGM	GRCh37	8	61736467	61736467	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	61	38	.	.	ENST00000423902.2:c.3270T>G	p.Asp1090Glu	p.D1090E	ENST00000423902	NM_017780.3	1090	gaT/gaG	0	1	1	UPI0000251DA6	0	getma.org/pdb.php?prot=CHD7_HUMAN&from=971&to=1258&var=D1090E	ENST00000423902		ENSG00000171316	20626		99	1.955		HGNC	p.D1090E		CHD7		SNV			1				ENST00000525508	protein_coding	getma.org/?cm=var&var=hg19,8,61736467,T,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551,SMART_domains:SM00487,Superfamily_domains:SSF52540		D/E		G	medium	3749/10446		getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=971&re=1258&var=D1090E		H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,missense_variant,p.Asp1090Glu,ENST00000423902,NM_017780.3;CHD7,missense_variant,p.Asp1090Glu,ENST00000525508,;CHD7,intron_variant,,ENST00000524602,;							MODERATE	3270/8994	D1090E	CHD7_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000392028		CCDS47865.1			1	
RGS17	0	LGGM	GRCh37	6	153365115	153365115	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	58	39	.	.	ENST00000367225.2:c.39T>A	p.Pro13=	p.P13=	ENST00000367225		13	ccT/ccA	0	1		UPI000000D76A	0		ENST00000206262		ENSG00000091844	14088		97			HGNC	p.P13P		RGS17		SNV							ENST00000206262	protein_coding			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF133		P		T		190/1636								RGS17,synonymous_variant,p.=,ENST00000367225,;RGS17,synonymous_variant,p.=,ENST00000206262,NM_012419.4;							LOW	39/633		RGS17_HUMAN			Transcript			.	ENSP00000206262		CCDS5244.1			1	
OR5L2	0	LGGM	GRCh37	11	55594913	55594913	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	69	42	.	.	ENST00000378397.1:c.219C>A	p.Tyr73Ter	p.Y73*	ENST00000378397	NM_001004739.1	73	taC/taA	0	1	1	UPI0000041C49	0	NA	ENST00000378397		ENSG00000205030	8351		111	0		HGNC	p.Y73X		OR5L2		SNV							ENST00000378397	protein_coding	getma.org/?cm=var&var=hg19,11,55594913,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF154,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/*		A	NA	219/936		NA					YES	OR5L2,stop_gained,p.Tyr73Ter,ENST00000378397,NM_001004739.1;							HIGH	219/936	Y73*	OR5L2_HUMAN			Transcript			.	ENSP00000367650		CCDS31511.1			1	
DNAJC25	0	LGGM	GRCh37	9	114409423	114409423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104572	H104572N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	62	42	.	.	ENST00000313525.3:c.373G>A	p.Asp125Asn	p.D125N	ENST00000313525	NM_001015882.2	125	Gat/Aat	0	1	1	UPI000006F186	0	NA	ENST00000313525		ENSG00000059769	34187		104	2.53		HGNC	p.D125N		DNAJC25		SNV							ENST00000313525	protein_coding	getma.org/?cm=var&var=hg19,9,114409423,G,A&fts=all		Gene3D:1.10.287.110,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF125,Superfamily_domains:SSF46565		D/N		A	medium	429/2268		getma.org/?cm=msa&ty=f&p=DJC25_HUMAN&rb=122&re=321&var=D125N	deleterious(0.01)				YES	DNAJC25,missense_variant,p.Asp125Asn,ENST00000313525,NM_001015882.2;DNAJC25-GNG10,intron_variant,,ENST00000374294,NM_004125.3;DNAJC25,intron_variant,,ENST00000556107,;DNAJC25,3_prime_UTR_variant,,ENST00000463589,;DNAJC25,3_prime_UTR_variant,,ENST00000447096,;							MODERATE	373/1083	D125N	DJC25_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000320650		CCDS43862.1			1	
EPHA3	0	LGGM	GRCh37	3	89259277	89259277	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104572	H104572N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	60	46	.	.	ENST00000336596.2:c.421A>T	p.Thr141Ser	p.T141S	ENST00000336596	NM_005233.5	141	Aca/Tca	0	1	1	UPI0000163BE4	0	getma.org/pdb.php?prot=EPHA3_HUMAN&from=29&to=202&var=T141S	ENST00000336596		ENSG00000044524	3387		106	0.255		HGNC	p.T141S		EPHA3		SNV			1				ENST00000494014	protein_coding	getma.org/?cm=var&var=hg19,3,89259277,A,T&fts=all		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,Pfam_domain:PF01404,Gene3D:2.60.120.260,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785		T/S		T	neutral	646/5809		getma.org/?cm=msa&ty=f&p=EPHA3_HUMAN&rb=29&re=202&var=T141S	tolerated(0.72)				YES	EPHA3,missense_variant,p.Thr141Ser,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Thr141Ser,ENST00000494014,;EPHA3,missense_variant,p.Thr141Ser,ENST00000452448,NM_182644.2;							MODERATE	421/2952	T141S	EPHA3_HUMAN			Transcript		benign(0.01)	.	ENSP00000337451		CCDS2922.1			1	
IGHV1-18	0	LGGM	GRCh37	14	106641777	106641777	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104572	H104572N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	61	62	.	.	ENST00000390605.2:c.137A>T	p.Tyr46Phe	p.Y46F	ENST00000390605		46	tAc/tTc	0	1	1	UPI000011AAD9	0		ENST00000390605		ENSG00000211945	5549		123			HGNC	p.Y46F	rs557543006	IGHV1-18		SNV				0.000103			ENST00000390605	IG_V_gene		A:0.0008	PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		Y/F		A		196/410			tolerated(0.18)		A:0	A:0	YES	IGHV1-18,missense_variant,p.Tyr46Phe,ENST00000390605,;SLC20A1P2,upstream_gene_variant,,ENST00000438667,;		A:0.0002					MODERATE	137/351				A:0	Transcript		benign(0.229)	.	ENSP00000375014	8.28E-06			A:0	1	
MAPKAPK5	0	LGGM	GRCh37	12	112305469	112305469	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	67	69	.	.	ENST00000551404.2:c.280C>T	p.Pro94Ser	p.P94S	ENST00000551404		94	Cct/Tct	0	1	1	UPI0000161429	0	getma.org/pdb.php?prot=MAPK5_HUMAN&from=22&to=304&var=P94S	ENST00000551404		ENSG00000089022	6889		136	-0.89		HGNC	p.P94S		MAPKAPK5		SNV							ENST00000550735	protein_coding	getma.org/?cm=var&var=hg19,12,112305469,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24349,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/S		T	neutral	388/1630		getma.org/?cm=msa&ty=f&p=MAPK5_HUMAN&rb=22&re=304&var=P94S	tolerated(0.4)				YES	MAPKAPK5,missense_variant,p.Pro94Ser,ENST00000550735,NM_003668.3,NM_139078.2;MAPKAPK5,missense_variant,p.Pro94Ser,ENST00000551404,;MAPKAPK5,intron_variant,,ENST00000549875,;MAPKAPK5,non_coding_transcript_exon_variant,,ENST00000546394,;MAPKAPK5,intron_variant,,ENST00000553053,;							MODERATE	280/1422	P94S	MAPK5_HUMAN			Transcript		possibly_damaging(0.526)	.	ENSP00000449381		CCDS44975.1			1	
ZFPM2	0	LGGM	GRCh37	8	106814073	106814073	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H104572	H104572N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104572N.bam, H104572T.bam	Illumina HiSeq	113	115	.	.	ENST00000407775.2:c.1763C>G	p.Ser588Ter	p.S588*	ENST00000407775	NM_012082.3	588	tCa/tGa	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		228	0		HGNC	p.S456X		ZFPM2		SNV			1				ENST00000520492	protein_coding	getma.org/?cm=var&var=hg19,8,106814073,C,G&fts=all		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5		S/*		G	NA	2013/4700		NA		Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,stop_gained,p.Ser588Ter,ENST00000407775,NM_012082.3;ZFPM2,stop_gained,p.Ser456Ter,ENST00000520492,;ZFPM2,stop_gained,p.Ser456Ter,ENST00000517361,;ZFPM2,stop_gained,p.Ser319Ter,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							HIGH	1763/3456	S588*	FOG2_HUMAN			Transcript			.	ENSP00000384179		CCDS47908.1			1	
GOLGA8S	0	LGGM	GRCh37	15	23608874	23608874	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	3	2	.	.	ENST00000562295.1:c.1305C>A	p.Pro435=	p.P435=	ENST00000562295		435	ccC/ccA	0	1	1	UPI00024672CC	0		ENST00000562295		ENSG00000261739	44409		5			HGNC	p.P435P	rs760409775	GOLGA8S		SNV							ENST00000562295	protein_coding			Pfam_domain:PF15070,hmmpanther:PTHR10881		P		A		1305/1878				H3BPF8_HUMAN			YES	GOLGA8S,synonymous_variant,p.=,ENST00000562295,;AC100756.1,upstream_gene_variant,,ENST00000459602,;RN7SL536P,downstream_gene_variant,,ENST00000491146,;GOLGA8S,non_coding_transcript_exon_variant,,ENST00000604046,;							LOW	1305/1878					Transcript			.	ENSP00000455298	1.39E-05				1	
STARD10	0	LGGM	GRCh37	11	72468882	72468882	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	9	2	.	.	ENST00000334805.6:c.507G>T	p.Thr169=	p.T169=	ENST00000334805	NM_006645.2	169	acG/acT	0	1	1	UPI0000035BCF	0		ENST00000334805		ENSG00000214530	10666		11			HGNC	p.T123T		STARD10		SNV							ENST00000538536	protein_coding			Gene3D:3.30.530.20,Pfam_domain:PF01852,PROSITE_profiles:PS50848,hmmpanther:PTHR19308,hmmpanther:PTHR19308:SF7,SMART_domains:SM00234,Superfamily_domains:SSF55961		T		A		1427/1963				F5H8G1_HUMAN,F5H5A8_HUMAN,F5H1Z6_HUMAN,F5H0V7_HUMAN			YES	STARD10,synonymous_variant,p.=,ENST00000334805,NM_006645.2;STARD10,synonymous_variant,p.=,ENST00000538536,;STARD10,synonymous_variant,p.=,ENST00000543304,;STARD10,synonymous_variant,p.=,ENST00000537947,;STARD10,synonymous_variant,p.=,ENST00000545082,;STARD10,synonymous_variant,p.=,ENST00000542989,;STARD10,synonymous_variant,p.=,ENST00000400925,;STARD10,synonymous_variant,p.=,ENST00000544767,;STARD10,synonymous_variant,p.=,ENST00000536728,;STARD10,synonymous_variant,p.=,ENST00000537351,;ARAP1,intron_variant,,ENST00000359373,;STARD10,downstream_gene_variant,,ENST00000546314,;STARD10,downstream_gene_variant,,ENST00000539138,;STARD10,downstream_gene_variant,,ENST00000535054,;STARD10,downstream_gene_variant,,ENST00000536290,;STARD10,intron_variant,,ENST00000538437,;STARD10,non_coding_transcript_exon_variant,,ENST00000543089,;STARD10,downstream_gene_variant,,ENST00000535267,;STARD10,upstream_gene_variant,,ENST00000535075,;							LOW	507/876		PCTL_HUMAN			Transcript			.	ENSP00000335247		CCDS41688.1			1	
ATP2A1	0	LGGM	GRCh37	16	28909579	28909579	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	14	2	.	.	ENST00000357084.3:c.1571G>C	p.Arg524Pro	p.R524P	ENST00000357084	NM_173201.3	524	cGc/cCc	0	1	1	UPI000003B461	0	getma.org/pdb.php?prot=AT2A1_HUMAN&from=345&to=715&var=R524P	ENST00000357084		ENSG00000196296	811		16	3.675		HGNC	p.R524P		ATP2A1		SNV			1				ENST00000395503	protein_coding	getma.org/?cm=var&var=hg19,16,28909579,G,C&fts=all		Gene3D:3.40.1110.10,Pfam_domain:PF00702,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF215,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01116		R/P		C	high	1838/3532		getma.org/?cm=msa&ty=f&p=AT2A1_HUMAN&rb=345&re=715&var=R524P	deleterious(0)	H3BUU3_HUMAN			YES	ATP2A1,missense_variant,p.Arg524Pro,ENST00000395503,NM_004320.4;ATP2A1,missense_variant,p.Arg524Pro,ENST00000357084,NM_173201.3;ATP2A1,missense_variant,p.Arg399Pro,ENST00000536376,NM_001286075.1;ATP2A1,downstream_gene_variant,,ENST00000565042,;ATP2A1,3_prime_UTR_variant,,ENST00000564732,;ATP2A1,downstream_gene_variant,,ENST00000564470,;							MODERATE	1571/3006	R524P	AT2A1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000349595		CCDS10643.1			1	
VIPR2	0	LGGM	GRCh37	7	158902574	158902574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	14	2	.	.	ENST00000262178.2:c.188G>T	p.Arg63Leu	p.R63L	ENST00000262178	NM_003382.4	63	cGg/cTg	0	1	1	UPI0000055A9A	0	getma.org/pdb.php?prot=VIPR2_HUMAN&from=49&to=112&var=R63L	ENST00000262178		ENSG00000106018	12695		16	1.52		HGNC	p.R204L		VIPR2		SNV							ENST00000402066	protein_coding	getma.org/?cm=var&var=hg19,7,158902574,C,A&fts=all		PROSITE_profiles:PS50227,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF27,PROSITE_patterns:PS00649,Pfam_domain:PF02793,SMART_domains:SM00008,Superfamily_domains:SSF111418,Prints_domain:PR01155		R/L		A	low	374/3944		getma.org/?cm=msa&ty=f&p=VIPR2_HUMAN&rb=49&re=112&var=R63L	tolerated(0.09)	Q71V81_HUMAN			YES	VIPR2,missense_variant,p.Arg63Leu,ENST00000262178,NM_003382.4;VIPR2,missense_variant,p.Arg204Leu,ENST00000402066,;							MODERATE	188/1317	R63L	VIPR2_HUMAN			Transcript		benign(0.028)	.	ENSP00000262178		CCDS5950.1			1	
TOMM40	0	LGGM	GRCh37	19	45404545	45404545	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	5	2	.	.	ENST00000426677.2:c.924C>A	p.Pro308=	p.P308=	ENST00000426677	NM_001128917.1	308	ccC/ccA	0	1		UPI0000130CBB	0		ENST00000252487		ENSG00000130204	18001		7			HGNC	p.P308P		TOMM40		SNV							ENST00000592434	protein_coding			hmmpanther:PTHR10802:SF1,hmmpanther:PTHR10802,Gene3D:2.40.160.10,Pfam_domain:PF01459		P		A		1025/1707				K7EKG6_HUMAN,K7EJ57_HUMAN				TOMM40,synonymous_variant,p.=,ENST00000592434,;TOMM40,synonymous_variant,p.=,ENST00000426677,NM_001128917.1;TOMM40,synonymous_variant,p.=,ENST00000252487,NM_001128916.1,NM_006114.2;TOMM40,synonymous_variant,p.=,ENST00000405636,;APOE,upstream_gene_variant,,ENST00000252486,NM_000041.2;APOE,upstream_gene_variant,,ENST00000434152,;APOE,upstream_gene_variant,,ENST00000446996,;TOMM40,synonymous_variant,p.=,ENST00000592041,;APOE,upstream_gene_variant,,ENST00000485628,;							LOW	924/1086		TOM40_HUMAN			Transcript			.	ENSP00000252487		CCDS12646.1			1	
PWP2	0	LGGM	GRCh37	21	45535664	45535664	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	20	2	.	.	ENST00000291576.7:c.699A>G	p.Lys233=	p.K233=	ENST00000291576	NM_005049.2	233	aaA/aaG	0	1	1	UPI0000169D5D	0		ENST00000291576		ENSG00000241945	9711		22			HGNC	p.K233K		PWP2		SNV							ENST00000291576	protein_coding			hmmpanther:PTHR19858,Gene3D:2.130.10.10		K		G		826/3297							YES	PWP2,synonymous_variant,p.=,ENST00000291576,NM_005049.2;PWP2,downstream_gene_variant,,ENST00000456705,;PWP2,non_coding_transcript_exon_variant,,ENST00000486126,;PWP2,upstream_gene_variant,,ENST00000471490,;							LOW	699/2760		PWP2_HUMAN			Transcript			.	ENSP00000291576		CCDS33579.1			1	
FTSJ1	0	LGGM	GRCh37	X	48340790	48340790	+	splice_acceptor_variant	Splice_Site	SNP	G	G	C	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	5	3	.	.	ENST00000348411.2:c.656-1G>C		p.X219_splice	ENST00000348411	NM_012280.2			0	1	1	UPI0000001C19	0		ENST00000348411		ENSG00000068438	13254		8			HGNC	-		FTSJ1		SNV			1				ENST00000348411	protein_coding							C		-/1892							YES	FTSJ1,splice_acceptor_variant,,ENST00000348411,NM_012280.2;FTSJ1,splice_acceptor_variant,,ENST00000396894,NM_001282157.1;FTSJ1,splice_region_variant,,ENST00000019019,NM_177439.1;FTSJ1,splice_region_variant,,ENST00000456787,NM_177434.1;FTSJ1,splice_acceptor_variant,,ENST00000490202,;FTSJ1,splice_acceptor_variant,,ENST00000467954,;FTSJ1,splice_acceptor_variant,,ENST00000489599,;FTSJ1,splice_acceptor_variant,,ENST00000473235,;FTSJ1,splice_region_variant,,ENST00000496365,;FTSJ1,splice_region_variant,,ENST00000466371,;FTSJ1,splice_region_variant,,ENST00000492562,;FTSJ1,intron_variant,,ENST00000475806,;FTSJ1,downstream_gene_variant,,ENST00000487353,;FTSJ1,downstream_gene_variant,,ENST00000485486,;							HIGH	656/990		TRM7_HUMAN			Transcript			.	ENSP00000326948		CCDS14294.1			1	
SPEN	0	LGGM	GRCh37	1	16261368	16261368	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	12	3	.	.	ENST00000375759.3:c.8633C>A	p.Ala2878Glu	p.A2878E	ENST00000375759	NM_015001.2	2878	gCg/gAg	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		15	1.39		HGNC	p.A2878E		SPEN		SNV							ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16261368,C,A&fts=all		hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189		A/E		A	low	8837/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=2791&re=3489&var=A2878E					YES	SPEN,missense_variant,p.Ala2878Glu,ENST00000375759,NM_015001.2;SPEN,upstream_gene_variant,,ENST00000487496,;							MODERATE	8633/10995	A2878E	MINT_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000364912		CCDS164.1			1	
WDR19	0	LGGM	GRCh37	4	39205342	39205342	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	46	3	.	.	ENST00000399820.3:c.603G>T	p.Met201Ile	p.M201I	ENST00000399820	NM_025132.3	201	atG/atT	0	1	1	UPI000004CC24	0	NA	ENST00000399820		ENSG00000157796	18340		49	0.695		HGNC	p.M201I		WDR19		SNV			1				ENST00000506503	protein_coding	getma.org/?cm=var&var=hg19,4,39205342,G,T&fts=all		Superfamily_domains:0047732,hmmpanther:PTHR14920,hmmpanther:PTHR14920:SF0		M/I		T	neutral	757/4520		getma.org/?cm=msa&ty=f&p=WDR19_HUMAN&rb=201&re=400&var=M201I	deleterious(0.04)	D6RE75_HUMAN,B4DGR6_HUMAN			YES	WDR19,missense_variant,p.Met201Ile,ENST00000399820,NM_025132.3;WDR19,missense_variant,p.Met41Ile,ENST00000288634,;WDR19,missense_variant,p.Met201Ile,ENST00000506503,;WDR19,missense_variant,p.Met142Ile,ENST00000509560,;WDR19,missense_variant,p.Met41Ile,ENST00000512112,;WDR19,intron_variant,,ENST00000511729,;WDR19,splice_region_variant,,ENST00000506869,;WDR19,splice_region_variant,,ENST00000512448,;WDR19,splice_region_variant,,ENST00000503697,;WDR19,splice_region_variant,,ENST00000505055,;							MODERATE	603/4029	M201I	WDR19_HUMAN			Transcript		benign(0.001)	.	ENSP00000382717		CCDS47042.1			1	
KIF12	0	LGGM	GRCh37	9	116856691	116856691	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	41	3	.	.	ENST00000374118.3:c.750G>T	p.Leu250=	p.L250=	ENST00000374118	NM_138424.1	250	ctG/ctT	0	1	1	UPI00000729C3	0		ENST00000374118		ENSG00000136883	21495		44			HGNC	p.L383L		KIF12		SNV							ENST00000259410	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF156,Superfamily_domains:SSF52540		L		A		988/2003				B1ALC3_HUMAN			YES	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,;							LOW	750/1542		KIF12_HUMAN			Transcript			.	ENSP00000363232		CCDS6801.1			1	
FBN3	0	LGGM	GRCh37	19	8203107	8203107	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	9	3	.	.	ENST00000600128.1:c.1119C>G	p.Pro373=	p.P373=	ENST00000600128		373	ccC/ccG	0	1		UPI000013D88F	0		ENST00000270509		ENSG00000142449	18794		12			HGNC	p.P373P		FBN3		SNV							ENST00000600128	protein_coding			hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PIRSF_domain:PIRSF036312		P		C		1405/9232								FBN3,synonymous_variant,p.=,ENST00000600128,;FBN3,synonymous_variant,p.=,ENST00000270509,NM_032447.3;FBN3,synonymous_variant,p.=,ENST00000601739,;							LOW	1119/8430		FBN3_HUMAN			Transcript			.	ENSP00000270509		CCDS12196.1			1	
SDC1	0	LGGM	GRCh37	2	20405138	20405138	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	38	3	.	.	ENST00000381150.1:c.114G>T	p.Gly38=	p.G38=	ENST00000381150	NM_001006946.1	38	ggG/ggT	0	1		UPI000013CE2D	0		ENST00000254351		ENSG00000115884	10658		41			HGNC	p.G38G		SDC1		SNV							ENST00000381150	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF5		G		A		359/3147								SDC1,synonymous_variant,p.=,ENST00000381150,NM_001006946.1;SDC1,synonymous_variant,p.=,ENST00000254351,NM_002997.4;SDC1,synonymous_variant,p.=,ENST00000403076,;SDC1,synonymous_variant,p.=,ENST00000429035,;SDC1,non_coding_transcript_exon_variant,,ENST00000482879,;SDC1,3_prime_UTR_variant,,ENST00000447124,;							LOW	114/933		SDC1_HUMAN			Transcript			.	ENSP00000254351		CCDS1697.1			1	
FAM134B	0	LGGM	GRCh37	5	16475034	16475034	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	23	3	.	.	ENST00000306320.9:c.1310C>G	p.Ser437Cys	p.S437C	ENST00000306320	NM_001034850.2	437	tCt/tGt	0	1	1	UPI000006D7DB	0	NA	ENST00000306320		ENSG00000154153	25964		26	1.04		HGNC	p.S296C		FAM134B		SNV			1				ENST00000399793	protein_coding	getma.org/?cm=var&var=hg19,5,16475034,G,C&fts=all				S/C		C	low	1397/3268		getma.org/?cm=msa&ty=f&p=F134B_HUMAN&rb=256&re=496&var=S437C	deleterious(0.03)				YES	FAM134B,missense_variant,p.Ser437Cys,ENST00000306320,NM_001034850.2;FAM134B,missense_variant,p.Ser296Cys,ENST00000399793,NM_019000.4;FAM134B,downstream_gene_variant,,ENST00000509977,;FAM134B,missense_variant,p.Ser157Cys,ENST00000510362,;							MODERATE	1310/1494	S437C	F134B_HUMAN			Transcript		benign(0.009)	.	ENSP00000304642		CCDS43304.1			1	
ZNF687	0	LGGM	GRCh37	1	151259268	151259268	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	40	3	.	.	ENST00000324048.5:c.501C>T	p.Gly167=	p.G167=	ENST00000324048		167	ggC/ggT	0	1	1	UPI00000721F7	0		ENST00000324048		ENSG00000143373	29277		43			HGNC	p.G167G	rs764300353	ZNF687		SNV							ENST00000324048	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF108		G		T		1471/5378	1.50E-05						YES	ZNF687,synonymous_variant,p.=,ENST00000324048,;ZNF687,synonymous_variant,p.=,ENST00000336715,;ZNF687,synonymous_variant,p.=,ENST00000368879,NM_020832.1;ZNF687,upstream_gene_variant,,ENST00000426871,;ZNF687,downstream_gene_variant,,ENST00000443959,;ZNF687,upstream_gene_variant,,ENST00000436614,;RP11-126K1.2,upstream_gene_variant,,ENST00000447795,;RP11-126K1.2,upstream_gene_variant,,ENST00000494138,;ZNF687,synonymous_variant,p.=,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;							LOW	501/3714		ZN687_HUMAN			Transcript			.	ENSP00000319829	8.24E-06	CCDS992.1			1	
DLX4	0	LGGM	GRCh37	17	48047057	48047057	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	43	3	.	.	ENST00000240306.3:c.225C>A	p.Pro75=	p.P75=	ENST00000240306	NM_138281.2	75	ccC/ccA	0	1	1	UPI0000070F94	0		ENST00000240306		ENSG00000108813	2917		46			HGNC	p.P75P		DLX4		SNV							ENST00000240306	protein_coding			hmmpanther:PTHR24327,hmmpanther:PTHR24327:SF30		P		A		520/2032							YES	DLX4,synonymous_variant,p.=,ENST00000240306,NM_138281.2;DLX4,synonymous_variant,p.=,ENST00000505318,;DLX4,upstream_gene_variant,,ENST00000411890,NM_001934.3;RNU6-1313P,upstream_gene_variant,,ENST00000362622,;DLX4,non_coding_transcript_exon_variant,,ENST00000503410,;DLX4,upstream_gene_variant,,ENST00000503276,;							LOW	225/723		DLX4_HUMAN			Transcript			.	ENSP00000240306		CCDS11555.1			1	
CXorf36	0	LGGM	GRCh37	X	45051199	45051199	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	17	3	.	.	ENST00000398000.2:c.295G>A	p.Ala99Thr	p.A99T	ENST00000398000	NM_176819.3	99	Gca/Aca	0	1	1	UPI000059DAFE	0	NA	ENST00000398000		ENSG00000147113	25866		20	2.255		HGNC	p.A99T		CXorf36		SNV							ENST00000398000	protein_coding	getma.org/?cm=var&var=hg19,X,45051199,C,T&fts=all		hmmpanther:PTHR32073,hmmpanther:PTHR32073:SF8		A/T		T	medium	370/4655		getma.org/?cm=msa&ty=f&p=CX036_HUMAN&rb=1&re=431&var=A99T	deleterious(0.01)	B7Z295_HUMAN			YES	CXorf36,missense_variant,p.Ala99Thr,ENST00000398000,NM_176819.3;CXorf36,missense_variant,p.Ala99Thr,ENST00000377934,NM_024689.2;RP11-342D14.1,intron_variant,,ENST00000450527,;RP11-342D14.1,intron_variant,,ENST00000438181,;CXorf36,upstream_gene_variant,,ENST00000477281,;CXorf36,upstream_gene_variant,,ENST00000492138,;							MODERATE	295/1302	A99T	DIA1R_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000381086		CCDS48096.1			1	
MAP3K7	0	LGGM	GRCh37	6	91226339	91226339	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	30	3	.	.	ENST00000369329.3:c.1702G>T	p.Val568Leu	p.V568L	ENST00000369329	NM_145331.2	568	Gta/Tta	0	1	1	UPI000012EAD6	0	NA	ENST00000369329		ENSG00000135341	6859		33	0.69		HGNC	p.V541L		MAP3K7		SNV							ENST00000369332	protein_coding	getma.org/?cm=var&var=hg19,6,91226339,C,A&fts=all		PIRSF_domain:PIRSF038168,hmmpanther:PTHR26392		V/L		A	neutral	1864/4911		getma.org/?cm=msa&ty=f&p=M3K7_HUMAN&rb=364&re=604&var=V568L	tolerated(0.34)				YES	MAP3K7,missense_variant,p.Val568Leu,ENST00000369329,NM_145331.2;MAP3K7,missense_variant,p.Val541Leu,ENST00000369332,NM_003188.3;MAP3K7,missense_variant,p.Val222Leu,ENST00000369320,;MAP3K7,3_prime_UTR_variant,,ENST00000369325,NM_145332.2;MAP3K7,3_prime_UTR_variant,,ENST00000369327,NM_145333.2;MAP3K7,non_coding_transcript_exon_variant,,ENST00000479630,;							MODERATE	1702/1821	V568L	M3K7_HUMAN			Transcript		benign(0.066)	.	ENSP00000358335		CCDS5028.1			1	
CREB3L3	0	LGGM	GRCh37	19	4171754	4171754	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	46	3	.	.	ENST00000078445.2:c.1174C>A	p.Arg392=	p.R392=	ENST00000078445	NM_032607.2	392	Cga/Aga	0	1	1	UPI000006FCF0	0		ENST00000078445		ENSG00000060566	18855		49			HGNC	p.R392R		CREB3L3		SNV			1				ENST00000078445	protein_coding			hmmpanther:PTHR22952,hmmpanther:PTHR22952:SF98		R		A		1321/2618							YES	CREB3L3,synonymous_variant,p.=,ENST00000078445,NM_032607.2,NM_001271996.1,NM_001271997.1,NM_001271995.1;CREB3L3,synonymous_variant,p.=,ENST00000252587,;CREB3L3,synonymous_variant,p.=,ENST00000595923,;CREB3L3,synonymous_variant,p.=,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,;							LOW	1174/1386		CR3L3_HUMAN			Transcript			.	ENSP00000078445		CCDS12121.1			1	
DHX37	0	LGGM	GRCh37	12	125437022	125437022	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	5	3	.	.	ENST00000308736.2:c.2790G>A	p.Thr930=	p.T930=	ENST00000308736	NM_032656.3	930	acG/acA	0	1	1	UPI00000742DC	0		ENST00000308736		ENSG00000150990	17210	8.67E-05	8			HGNC	p.T717T	rs762816730	DHX37		SNV							ENST00000544745	protein_coding			Pfam_domain:PF07717,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99		T		T		2889/4548	3.03E-05			Q6IPP7_HUMAN			YES	DHX37,synonymous_variant,p.=,ENST00000308736,NM_032656.3;DHX37,synonymous_variant,p.=,ENST00000544745,;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;DHX37,non_coding_transcript_exon_variant,,ENST00000542400,;DHX37,upstream_gene_variant,,ENST00000507267,;							LOW	2790/3474		DHX37_HUMAN			Transcript			.	ENSP00000311135	2.47E-05	CCDS9261.1			1	
TAS2R60	0	LGGM	GRCh37	7	143140795	143140795	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	47	3	.	.	ENST00000332690.1:c.250C>A	p.Pro84Thr	p.P84T	ENST00000332690	NM_177437.1	84	Ccg/Acg	0	1	1	UPI000000D824	0	NA	ENST00000332690		ENSG00000185899	20639		50	2.005		HGNC	p.P84T		TAS2R60		SNV							ENST00000332690	protein_coding	getma.org/?cm=var&var=hg19,7,143140795,C,A&fts=all		Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF32,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/T		A	medium	250/957		getma.org/?cm=msa&ty=f&p=T2R60_HUMAN&rb=12&re=310&var=P84T	tolerated(0.2)	Q50KC8_HUMAN			YES	TAS2R60,missense_variant,p.Pro84Thr,ENST00000332690,NM_177437.1;EPHA1-AS1,intron_variant,,ENST00000429289,;							MODERATE	250/957	P84T	T2R60_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000327724		CCDS5885.1			1	
PPM1F	0	LGGM	GRCh37	22	22279904	22279904	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	24	4	.	.	ENST00000263212.5:c.985+38C>T		*329*	ENST00000263212	NM_014634.3			0	1	1	UPI000012A61C	0		ENST00000263212		ENSG00000100034	19388		28			HGNC	p.V341V		PPM1F		SNV							ENST00000397495	protein_coding							A		-/5143				Q6IPC0_HUMAN,Q0VGL7_HUMAN,C9J2F3_HUMAN,B5MCT7_HUMAN,A0M8Q2_HUMAN			YES	PPM1F,synonymous_variant,p.=,ENST00000397495,;PPM1F,intron_variant,,ENST00000407142,;PPM1F,intron_variant,,ENST00000263212,NM_014634.3;PPM1F,intron_variant,,ENST00000538191,;PPM1F,intron_variant,,ENST00000496143,;PPM1F,intron_variant,,ENST00000484588,;							MODIFIER	-/1365		PPM1F_HUMAN			Transcript			.	ENSP00000263212		CCDS13796.1			1	
KIAA1009	0	LGGM	GRCh37	6	84896168	84896168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	82	4	.	.	ENST00000403245.3:c.1283C>A	p.Pro428Gln	p.P428Q	ENST00000403245	NM_014895.2	428	cCa/cAa	0	1	1	UPI0001533DAA	0	NA	ENST00000403245		ENSG00000135315	21107		86	1.115		HGNC	p.P428Q		KIAA1009		SNV							ENST00000403245	protein_coding	getma.org/?cm=var&var=hg19,6,84896168,G,T&fts=all		Gene3D:1f5nA01		P/Q		T	low	1398/5156		getma.org/?cm=msa&ty=f&p=QN1_HUMAN&rb=1&re=1402&var=P428Q	tolerated(0.21)	B3KN48_HUMAN			YES	KIAA1009,missense_variant,p.Pro428Gln,ENST00000403245,NM_014895.2;KIAA1009,missense_variant,p.Pro352Gln,ENST00000257766,NM_001286206.1;KIAA1009,non_coding_transcript_exon_variant,,ENST00000461137,;KIAA1009,non_coding_transcript_exon_variant,,ENST00000497936,;							MODERATE	1283/4212	P428Q	CE162_HUMAN			Transcript		benign(0.2)	.	ENSP00000385215		CCDS34494.2			1	
LSAMP	0	LGGM	GRCh37	3	116163723	116163723	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	20	5	.	.	ENST00000490035.2:c.155+1G>A		p.X52_splice	ENST00000490035	NM_002338.3			0	1	1	UPI00000746A0	0		ENST00000490035		ENSG00000185565	6705		25			HGNC	-		LSAMP		SNV							ENST00000333617	protein_coding							T		-/9446							YES	LSAMP,splice_donor_variant,,ENST00000490035,NM_002338.3;LSAMP,splice_donor_variant,,ENST00000333617,;LSAMP,splice_donor_variant,,ENST00000539563,;LSAMP,splice_donor_variant,,ENST00000474851,;							HIGH	155/1017		LSAMP_HUMAN			Transcript			.	ENSP00000419000		CCDS2982.1			1	
E2F2	0	LGGM	GRCh37	1	23848385	23848385	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	13	5	.	.	ENST00000361729.2:c.522C>T	p.Asn174=	p.N174=	ENST00000361729	NM_004091.3	174	aaC/aaT	0	1	1	UPI0000129AC1	0		ENST00000361729		ENSG00000007968	3114	8.64E-05	18			HGNC	p.N174N	rs748880906	E2F2		SNV							ENST00000361729	protein_coding			hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF41,Pfam_domain:PF02319,Gene3D:1.10.10.10,Superfamily_domains:SSF46785		N		A		949/5191							YES	E2F2,synonymous_variant,p.=,ENST00000361729,NM_004091.3;E2F2,upstream_gene_variant,,ENST00000487237,;							LOW	522/1314		E2F2_HUMAN			Transcript			.	ENSP00000355249	8.24E-06	CCDS236.1			1	
CES1	0	LGGM	GRCh37	16	55855294	55855294	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	1	5	.	.	ENST00000360526.3:c.679A>T	p.Ser227Cys	p.S227C	ENST00000360526	NM_001266.4	227	Agt/Tgt	0	1		UPI000004A443	0	getma.org/pdb.php?prot=EST1_HUMAN&from=1&to=547&var=S226C	ENST00000361503		ENSG00000198848	1863		6	2.93		HGNC	p.S226C		CES1		SNV			1				ENST00000422046	protein_coding	getma.org/?cm=var&var=hg19,16,55855294,T,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF179,Superfamily_domains:SSF53474		S/C		A	medium	807/1835		getma.org/?cm=msa&ty=f&p=EST1_HUMAN&rb=1&re=547&var=S226C	deleterious(0.03)	B7Z795_HUMAN				CES1,missense_variant,p.Ser226Cys,ENST00000422046,;CES1,missense_variant,p.Ser227Cys,ENST00000360526,NM_001266.4,NM_001025195.1,NM_001025194.1;CES1,missense_variant,p.Ser226Cys,ENST00000361503,;CES1,downstream_gene_variant,,ENST00000566555,;CES1,non_coding_transcript_exon_variant,,ENST00000563005,;CES1,non_coding_transcript_exon_variant,,ENST00000565403,;CES1,upstream_gene_variant,,ENST00000569260,;							MODERATE	676/1704	S226C	EST1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000355193		CCDS45488.1			1	
IPO11	0	LGGM	GRCh37	5	61789952	61789952	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	13	6	.	.	ENST00000409296.3:c.1710+1G>T		p.X570_splice	ENST00000409296	NM_001134779.1			0	1		UPI00000737DF	0		ENST00000325324		ENSG00000086200	20628		19			HGNC	-		IPO11		SNV							ENST00000424533	protein_coding							T		-/4356				E7EMB7_HUMAN,D6RJB1_HUMAN,D6RCQ2_HUMAN,D6RCN7_HUMAN				IPO11,splice_donor_variant,,ENST00000325324,NM_016338.4;IPO11,splice_donor_variant,,ENST00000409296,NM_001134779.1;KIF2A,intron_variant,,ENST00000509663,;IPO11,splice_donor_variant,,ENST00000424533,;							HIGH	1590/2928		IPO11_HUMAN			Transcript			.	ENSP00000316651		CCDS34167.1			1	
KIDINS220	0	LGGM	GRCh37	2	8874804	8874804	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	12	6	.	.	ENST00000256707.3:c.3797G>C	p.Trp1266Ser	p.W1266S	ENST00000256707	NM_020738.2	1266	tGg/tCg	0	1	1	UPI0000208E08	0	NA	ENST00000256707		ENSG00000134313	29508		18	2.565		HGNC	p.W1247S		KIDINS220		SNV							ENST00000473731	protein_coding	getma.org/?cm=var&var=hg19,2,8874804,C,G&fts=all		hmmpanther:PTHR24116,hmmpanther:PTHR24116:SF5,Superfamily_domains:SSF47769		W/S		G	medium	3979/7361		getma.org/?cm=msa&ty=f&p=KDIS_HUMAN&rb=1154&re=1353&var=W1266S	deleterious(0)	F8WAY8_HUMAN			YES	KIDINS220,missense_variant,p.Trp1266Ser,ENST00000256707,NM_020738.2;KIDINS220,missense_variant,p.Trp1247Ser,ENST00000427284,;KIDINS220,missense_variant,p.Trp1247Ser,ENST00000473731,;KIDINS220,missense_variant,p.Trp1167Ser,ENST00000418530,;KIDINS220,missense_variant,p.Trp1210Ser,ENST00000489024,;KIDINS220,missense_variant,p.Trp956Ser,ENST00000496383,;KIDINS220,3_prime_UTR_variant,,ENST00000488729,;KIDINS220,non_coding_transcript_exon_variant,,ENST00000471685,;							MODERATE	3797/5316	W1266S	KDIS_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000256707		CCDS42650.1			1	
VWF	0	LGGM	GRCh37	12	6184587	6184587	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	3	6	.	.	ENST00000261405.5:c.788G>A	p.Cys263Tyr	p.C263Y	ENST00000261405	NM_000552.3	263	tGc/tAc	0	1	1	UPI00001AE7EE	0	NA	ENST00000261405		ENSG00000110799	12726		9	3.405		HGNC	p.C263Y		VWF		SNV			1				ENST00000261405	protein_coding	getma.org/?cm=var&var=hg19,12,6184587,C,T&fts=all		Pfam_domain:PF08742,PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00832		C/Y		T	medium	1043/8838		getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=218&re=292&var=C263Y	deleterious(0)	H2DLA2_HUMAN			YES	VWF,missense_variant,p.Cys263Tyr,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;							MODERATE	788/8442	C263Y	VWF_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000261405		CCDS8539.1			1	
SPTB	0	LGGM	GRCh37	14	65234569	65234569	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	6	6	.	.	ENST00000389722.3:c.6031G>A	p.Val2011Met	p.V2011M	ENST00000389722	NM_001024858.2	2011	Gtg/Atg	0	1		UPI000053030C	0	getma.org/pdb.php?prot=SPTB1_HUMAN&from=2009&to=2095&var=V2011M	ENST00000389721		ENSG00000070182	11274		12	2.36		HGNC	p.V2011M		SPTB		SNV			1				ENST00000542895	protein_coding	getma.org/?cm=var&var=hg19,14,65234569,C,T&fts=all		Gene3D:1.20.58.60,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,Superfamily_domains:SSF46966		V/M		T	medium	6064/6705		getma.org/?cm=msa&ty=f&p=SPTB1_HUMAN&rb=2009&re=2095&var=V2011M	deleterious(0)	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,O14726_HUMAN,O14725_HUMAN				SPTB,missense_variant,p.Val2011Met,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Val2011Met,ENST00000556626,;SPTB,missense_variant,p.Val2011Met,ENST00000542895,;SPTB,missense_variant,p.Val2011Met,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Val2011Met,ENST00000389720,;SPTB,missense_variant,p.Val676Met,ENST00000553938,;SPTB,upstream_gene_variant,,ENST00000342835,;SPTB,non_coding_transcript_exon_variant,,ENST00000542694,;							MODERATE	6031/6414	V2011M	SPTB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374371		CCDS32100.1			1	
TTC17	0	LGGM	GRCh37	11	43423068	43423068	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	7	6	.	.	ENST00000039989.4:c.1292A>T	p.Tyr431Phe	p.Y431F	ENST00000039989	NM_018259.5	431	tAt/tTt	0	1	1	UPI000006E6C7	0	NA	ENST00000039989		ENSG00000052841	25596		13	1.445		HGNC	p.Y431F		TTC17		SNV							ENST00000039989	protein_coding	getma.org/?cm=var&var=hg19,11,43423068,A,T&fts=all		hmmpanther:PTHR16091		Y/F		T	low	1306/4469		getma.org/?cm=msa&ty=f&p=TTC17_HUMAN&rb=329&re=528&var=Y431F	tolerated(0.1)				YES	TTC17,missense_variant,p.Tyr431Phe,ENST00000039989,NM_018259.5;TTC17,missense_variant,p.Tyr431Phe,ENST00000299240,;TTC17,non_coding_transcript_exon_variant,,ENST00000526774,;TTC17,missense_variant,p.Tyr106Phe,ENST00000525029,;TTC17,downstream_gene_variant,,ENST00000524936,;TTC17,upstream_gene_variant,,ENST00000530483,;							MODERATE	1292/3426	Y431F	TTC17_HUMAN			Transcript		benign(0.367)	.	ENSP00000039989		CCDS31466.1			1	
ARRDC1	0	LGGM	GRCh37	9	140507370	140507370	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	13	7	.	.	ENST00000371421.4:c.141T>C	p.Gly47=	p.G47=	ENST00000371421	NM_152285.2	47	ggT/ggC	0	1	1	UPI0000072A1F	0		ENST00000371421		ENSG00000197070	28633		20			HGNC	p.G47G		ARRDC1		SNV							ENST00000431925	protein_coding			Pfam_domain:PF00339,hmmpanther:PTHR11188,hmmpanther:PTHR11188:SF11,SMART_domains:SM01017,Superfamily_domains:SSF81296		G		C		205/1586							YES	ARRDC1,synonymous_variant,p.=,ENST00000371421,NM_152285.2;ARRDC1,synonymous_variant,p.=,ENST00000419386,;ARRDC1,synonymous_variant,p.=,ENST00000431925,;C9orf37,downstream_gene_variant,,ENST00000371417,NM_032937.4;ARRDC1,non_coding_transcript_exon_variant,,ENST00000491911,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000466367,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000497877,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000495220,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000483563,;ARRDC1,non_coding_transcript_exon_variant,,ENST00000471125,;C9orf37,downstream_gene_variant,,ENST00000496793,;ARRDC1,upstream_gene_variant,,ENST00000475658,;ARRDC1,upstream_gene_variant,,ENST00000468983,;ARRDC1,synonymous_variant,p.=,ENST00000461627,;							LOW	141/1302		ARRD1_HUMAN			Transcript			.	ENSP00000360475		CCDS7049.1			1	
GPRC5C	0	LGGM	GRCh37	17	72439960	72439960	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	13	8	.	.	ENST00000392627.1:c.1190A>C	p.Lys397Thr	p.K397T	ENST00000392627	NM_022036.2	397	aAg/aCg	0	1	1	UPI0000231CB2	0	NA	ENST00000392627		ENSG00000170412	13309		21	1.39		HGNC	p.K397T		GPRC5C		SNV							ENST00000392627	protein_coding	getma.org/?cm=var&var=hg19,17,72439960,A,C&fts=all		hmmpanther:PTHR14511,hmmpanther:PTHR14511:SF7		K/T		C	low	2316/2988		getma.org/?cm=msa&ty=f&p=GPC5C_HUMAN&rb=304&re=441&var=K352T	tolerated(0.32)	J9JIE0_HUMAN,J3QQN3_HUMAN			YES	GPRC5C,missense_variant,p.Lys397Thr,ENST00000392627,NM_022036.2;GPRC5C,missense_variant,p.Lys372Thr,ENST00000392628,;GPRC5C,missense_variant,p.Lys364Thr,ENST00000392629,NM_018653.3;GPRC5C,missense_variant,p.Lys37Thr,ENST00000342648,;GPRC5C,synonymous_variant,p.=,ENST00000481232,;GPRC5C,intron_variant,,ENST00000581590,;GPRC5C,downstream_gene_variant,,ENST00000582473,;GPRC5C,downstream_gene_variant,,ENST00000582444,;GPRC5C,non_coding_transcript_exon_variant,,ENST00000582873,;GPRC5C,non_coding_transcript_exon_variant,,ENST00000482723,;GPRC5C,upstream_gene_variant,,ENST00000577663,;							MODERATE	1190/1461	K352T	GPC5C_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000376403		CCDS11699.1			1	
POM121	0	LGGM	GRCh37	7	72413735	72413735	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	14	9	.	.	ENST00000395270.1:c.2408C>T	p.Ala803Val	p.A803V	ENST00000395270	NM_001257190.2	803	gCc/gTc	0	1		UPI00017BE7A5	0	NA	ENST00000434423		ENSG00000196313	19702		23	2.585		HGNC	p.A803V		POM121		SNV							ENST00000358357	protein_coding	getma.org/?cm=var&var=hg19,7,72413735,C,T&fts=all		hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF5,Low_complexity_(Seg):seg		A/V		T	medium	3203/3750		getma.org/?cm=msa&ty=f&p=P121A_HUMAN&rb=561&re=1248&var=A1068V	deleterious(0.04)	A8MY32_HUMAN				POM121,missense_variant,p.Ala803Val,ENST00000395270,NM_001257190.2;POM121,missense_variant,p.Ala803Val,ENST00000257622,NM_172020.4;POM121,missense_variant,p.Ala803Val,ENST00000358357,;POM121,missense_variant,p.Ala803Val,ENST00000446813,;POM121,missense_variant,p.Ala1068Val,ENST00000434423,;NSUN5P2,downstream_gene_variant,,ENST00000602348,;							MODERATE	3203/3750	A1068V	P121A_HUMAN			Transcript		benign(0.168)	.	ENSP00000405562					1	
GREB1	0	LGGM	GRCh37	2	11772178	11772178	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	16	10	.	.	ENST00000381486.2:c.4755G>A	p.Lys1585=	p.K1585=	ENST00000381486	NM_014668.3	1585	aaG/aaA	0	1		UPI0000163937	0		ENST00000234142		ENSG00000196208	24885		26			HGNC	p.K583K	rs752868455	GREB1		SNV							ENST00000396123	protein_coding			hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		K		A		5017/8444	1.50E-05							GREB1,synonymous_variant,p.=,ENST00000381486,NM_014668.3;GREB1,synonymous_variant,p.=,ENST00000234142,;GREB1,synonymous_variant,p.=,ENST00000396123,;							LOW	4755/5850		GREB1_HUMAN			Transcript			.	ENSP00000234142	8.27E-06	CCDS42655.1			1	
IVL	0	LGGM	GRCh37	1	152882720	152882720	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	29	11	.	.	ENST00000368764.3:c.447A>G	p.Lys149=	p.K149=	ENST00000368764		149	aaA/aaG	0	1	1	UPI000013E24A	0		ENST00000368764		ENSG00000163207	6187		40			HGNC	p.K3K		IVL		SNV							ENST00000392667	protein_coding			hmmpanther:PTHR13905		K		G		511/2153				J3KPN6_HUMAN			YES	IVL,synonymous_variant,p.=,ENST00000368764,;IVL,synonymous_variant,p.=,ENST00000392667,NM_005547.2;							LOW	447/1758		INVO_HUMAN			Transcript			.	ENSP00000357753		CCDS1030.1			1	
OR13C5	0	LGGM	GRCh37	9	107361615	107361615	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	19	11	.	.	ENST00000374779.2:c.80T>A	p.Phe27Tyr	p.F27Y	ENST00000374779	NM_001004482.1	27	tTt/tAt	0	1	1	UPI0000041D12	0	getma.org/pdb.php?prot=O13C5_HUMAN&from=1&to=139&var=F27Y	ENST00000374779		ENSG00000255800	15100		30	1.135		HGNC	p.F27Y		OR13C5		SNV							ENST00000374779	protein_coding	getma.org/?cm=var&var=hg19,9,107361615,A,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF121,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		F/Y		T	low	174/1139		getma.org/?cm=msa&ty=f&p=O13C5_HUMAN&rb=1&re=139&var=F27Y	tolerated(0.14)				YES	OR13C5,missense_variant,p.Phe27Tyr,ENST00000374779,NM_001004482.1;							MODERATE	80/957	F27Y	O13C5_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000363911		CCDS35091.1			1	
CHRNB3	0	LGGM	GRCh37	8	42587020	42587020	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	9	12	.	.	ENST00000289957.2:c.570C>A	p.Val190=	p.V190=	ENST00000289957	NM_000749.3	190	gtC/gtA	0	1	1	UPI0000125272	0		ENST00000289957		ENSG00000147432	1963		21			HGNC	p.V190V		CHRNB3		SNV							ENST00000289957	protein_coding			Superfamily_domains:0038932,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945		V		A		698/2294							YES	CHRNB3,synonymous_variant,p.=,ENST00000289957,NM_000749.3;							LOW	570/1377		ACHB3_HUMAN			Transcript			.	ENSP00000289957		CCDS6134.1			1	
HSP90B1	0	LGGM	GRCh37	12	104325304	104325304	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	10	12	.	.	ENST00000299767.5:c.55G>T	p.Val19Phe	p.V19F	ENST00000299767	NM_003299.2	19	Gtc/Ttc	0	1	1	UPI0000129FBA	0	NA	ENST00000299767		ENSG00000166598	12028		22	1.655		HGNC	p.V19F		HSP90B1		SNV							ENST00000540297	protein_coding	getma.org/?cm=var&var=hg19,12,104325304,G,T&fts=all		hmmpanther:PTHR11528,hmmpanther:PTHR11528:SF44,Cleavage_site_(Signalp):SignalP-noTM		V/F		T	low	237/2858		getma.org/?cm=msa&ty=f&p=ENPL_HUMAN&rb=1&re=93&var=V19F	deleterious(0.02)	Q5CAQ5_HUMAN,F8W026_HUMAN,B4DHT9_HUMAN			YES	HSP90B1,missense_variant,p.Val19Phe,ENST00000299767,NM_003299.2;HSP90B1,5_prime_UTR_variant,,ENST00000549334,;MIR3652,downstream_gene_variant,,ENST00000579335,;RP11-642P15.1,upstream_gene_variant,,ENST00000548897,;RP11-642P15.1,upstream_gene_variant,,ENST00000388789,;HSP90B1,missense_variant,p.Val19Phe,ENST00000540297,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000548462,;HSP90B1,non_coding_transcript_exon_variant,,ENST00000548622,;							MODERATE	55/2412	V19F	ENPL_HUMAN			Transcript		benign(0.146)	.	ENSP00000299767		CCDS9094.1			1	
LRRC8C	0	LGGM	GRCh37	1	90179193	90179193	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	13	13	.	.	ENST00000370454.4:c.1064G>A	p.Arg355His	p.R355H	ENST00000370454	NM_032270.4	355	cGt/cAt	0	1	1	UPI000013E814	0	NA	ENST00000370454		ENSG00000171488	25075		26	2.44		HGNC	p.R355H		LRRC8C		SNV							ENST00000370454	protein_coding	getma.org/?cm=var&var=hg19,1,90179193,G,A&fts=all		hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF415		R/H		A	medium	1319/7218		getma.org/?cm=msa&ty=f&p=LRC8C_HUMAN&rb=159&re=358&var=R355H	deleterious(0)				YES	LRRC8C,missense_variant,p.Arg355His,ENST00000370454,NM_032270.4;LRRC8C,intron_variant,,ENST00000479252,;RP11-302M6.4,intron_variant,,ENST00000370453,;LRRC8C,downstream_gene_variant,,ENST00000482063,;							MODERATE	1064/2412	R355H	LRC8C_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000359483		CCDS725.1			1	
MYO3A	0	LGGM	GRCh37	10	26446324	26446324	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	50	13	.	.	ENST00000265944.5:c.2879C>T	p.Ala960Val	p.A960V	ENST00000265944	NM_017433.4	960	gCa/gTa	0	1	1	UPI000014140A	0	getma.org/pdb.php?prot=MYO3A_HUMAN&from=340&to=1041&var=A960V	ENST00000265944		ENSG00000095777	7601		63	3.355		HGNC	p.A960V		MYO3A		SNV			1				ENST00000265944	protein_coding	getma.org/?cm=var&var=hg19,10,26446324,C,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		A/V		T	medium	3045/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=340&re=1041&var=A960V	deleterious(0)				YES	MYO3A,missense_variant,p.Ala960Val,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;							MODERATE	2879/4851	A960V	MYO3A_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000265944		CCDS7148.1			1	
GREB1	0	LGGM	GRCh37	2	11772156	11772156	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	17	13	.	.	ENST00000381486.2:c.4733A>T	p.Glu1578Val	p.E1578V	ENST00000381486	NM_014668.3	1578	gAa/gTa	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		30	2.19		HGNC	p.E576V		GREB1		SNV							ENST00000396123	protein_coding	getma.org/?cm=var&var=hg19,2,11772156,A,T&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		E/V		T	medium	4995/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=E1578V	deleterious(0)					GREB1,missense_variant,p.Glu1578Val,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Glu1578Val,ENST00000234142,;GREB1,missense_variant,p.Glu576Val,ENST00000396123,;							MODERATE	4733/5850	E1578V	GREB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000234142		CCDS42655.1			1	
MGARP	0	LGGM	GRCh37	4	140196541	140196541	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	28	13	.	.	ENST00000398955.1:c.88C>T	p.Leu30=	p.L30=	ENST00000398955	NM_032623.3	30	Ctg/Ttg	0	1	1	UPI000007197E	0		ENST00000398955		ENSG00000137463	29969		41			HGNC	p.L30L		MGARP		SNV							ENST00000398955	protein_coding			hmmpanther:PTHR22910,hmmpanther:PTHR22910:SF6,Pfam_domain:PF14962		L		A		268/1339							YES	MGARP,synonymous_variant,p.=,ENST00000398955,NM_032623.3;NDUFC1,3_prime_UTR_variant,,ENST00000503997,;							LOW	88/723		HUMMR_HUMAN			Transcript			.	ENSP00000381928		CCDS43269.1			1	
ARID2	0	LGGM	GRCh37	12	46246629	46246629	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	15	14	.	.	ENST00000334344.6:c.4723C>T	p.Gln1575Ter	p.Q1575*	ENST00000334344	NM_152641.2	1575	Cag/Tag	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		29	0		HGNC	p.Q183X		ARID2		SNV							ENST00000457135	protein_coding	getma.org/?cm=var&var=hg19,12,46246629,C,T&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14		Q/*		T	NA	4895/8642		NA		Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,stop_gained,p.Gln1575Ter,ENST00000334344,NM_152641.2;ARID2,stop_gained,p.Gln1185Ter,ENST00000444670,;ARID2,stop_gained,p.Gln1426Ter,ENST00000422737,;ARID2,stop_gained,p.Gln183Ter,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;							HIGH	4723/5508	Q1575*	ARID2_HUMAN			Transcript			.	ENSP00000335044		CCDS31783.1			1	
SMCHD1	0	LGGM	GRCh37	18	2673292	2673292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	20	14	.	.	ENST00000320876.6:c.437C>A	p.Ala146Glu	p.A146E	ENST00000320876	NM_015295.2	146	gCg/gAg	0	1	1	UPI00001D7AAD	0	NA	ENST00000320876		ENSG00000101596	29090		34	2.75		HGNC	p.A146E		SMCHD1		SNV			1				ENST00000320876	protein_coding	getma.org/?cm=var&var=hg19,18,2673292,C,A&fts=all		hmmpanther:PTHR22640:SF2,hmmpanther:PTHR22640,Pfam_domain:PF13589,Gene3D:3.30.565.10,Superfamily_domains:SSF55874		A/E		A	medium	775/8821		getma.org/?cm=msa&ty=f&p=SMHD1_HUMAN&rb=139&re=299&var=A146E	deleterious(0)				YES	SMCHD1,missense_variant,p.Ala146Glu,ENST00000320876,NM_015295.2;SMCHD1,missense_variant,p.Ala146Glu,ENST00000261598,;							MODERATE	437/6018	A146E	SMHD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000326603		CCDS45822.1			1	
CBX1	0	LGGM	GRCh37	17	46148886	46148886	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	19	14	.	.	ENST00000393408.3:c.469C>G	p.Pro157Ala	p.P157A	ENST00000393408	NM_006807.4	157	Cca/Gca	0	1		UPI0000021A5B	0	getma.org/pdb.php?prot=CBX1_HUMAN&from=115&to=172&var=P157A	ENST00000225603		ENSG00000108468	1551		33	4.08		HGNC	p.P157A		CBX1		SNV							ENST00000581003	protein_coding	getma.org/?cm=var&var=hg19,17,46148886,G,C&fts=all		PROSITE_profiles:PS50013,hmmpanther:PTHR22812:SF88,hmmpanther:PTHR22812,Pfam_domain:PF01393,Gene3D:2.40.50.40,SMART_domains:SM00300,SMART_domains:SM00298,Superfamily_domains:SSF54160		P/A		C	high	760/2232		getma.org/?cm=msa&ty=f&p=CBX1_HUMAN&rb=115&re=172&var=P157A	deleterious(0.01)	Q6IBN6_HUMAN,K7ELA4_HUMAN,J3KS05_HUMAN,C9JWS9_HUMAN				CBX1,missense_variant,p.Pro157Ala,ENST00000393408,NM_006807.4;CBX1,missense_variant,p.Pro157Ala,ENST00000225603,NM_001127228.1;CBX1,missense_variant,p.Pro157Ala,ENST00000581003,;CBX1,missense_variant,p.Pro161Ala,ENST00000402583,;CBX1,downstream_gene_variant,,ENST00000495350,;CBX1,downstream_gene_variant,,ENST00000444685,;							MODERATE	469/558	P157A	CBX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000225603		CCDS11525.1			1	
USP34	0	LGGM	GRCh37	2	61541741	61541741	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	30	14	.	.	ENST00000398571.2:c.3521A>G	p.His1174Arg	p.H1174R	ENST00000398571	NM_014709.3	1174	cAt/cGt	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		44	2.045		HGNC	p.H1174R		USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61541741,T,C&fts=all				H/R		C	medium	3598/11357		getma.org/?cm=msa&ty=f&p=UBP34_HUMAN&rb=1001&re=1200&var=H1174R	deleterious(0)				YES	USP34,missense_variant,p.His1174Arg,ENST00000398571,NM_014709.3;							MODERATE	3521/10641	H1174R	UBP34_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000381577		CCDS42686.1			1	
SDCCAG8	0	LGGM	GRCh37	1	243456490	243456490	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	45	15	.	.	ENST00000366541.3:c.644A>T	p.Lys215Ile	p.K215I	ENST00000366541	NM_006642.3	215	aAa/aTa	0	1	1	UPI000000D77E	0	NA	ENST00000366541		ENSG00000054282	10671		60	1.7		HGNC	p.K215I		SDCCAG8		SNV			1				ENST00000366541	protein_coding	getma.org/?cm=var&var=hg19,1,243456490,A,T&fts=all				K/I		T	low	762/2567		getma.org/?cm=msa&ty=f&p=SDCG8_HUMAN&rb=1&re=359&var=K215I	deleterious(0.05)	A6NCS9_HUMAN			YES	SDCCAG8,missense_variant,p.Lys215Ile,ENST00000366541,NM_006642.3;SDCCAG8,missense_variant,p.Lys70Ile,ENST00000343783,;SDCCAG8,missense_variant,p.Lys48Ile,ENST00000476722,;SDCCAG8,missense_variant,p.Lys215Ile,ENST00000391846,;SDCCAG8,intron_variant,,ENST00000355875,;SDCCAG8,intron_variant,,ENST00000435549,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000496361,;SDCCAG8,non_coding_transcript_exon_variant,,ENST00000482234,;							MODERATE	644/2142	K215I	SDCG8_HUMAN			Transcript		benign(0.354)	.	ENSP00000355499		CCDS31075.1			1	
NR3C1	0	LGGM	GRCh37	5	142780106	142780106	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	36	16	.	.	ENST00000231509.3:c.299A>G	p.Asn100Ser	p.N100S	ENST00000231509		100	aAt/aGt	0	1		UPI000012B301	0	NA	ENST00000343796		ENSG00000113580	7978		52	1.175		HGNC	p.N100S		NR3C1		SNV			1				ENST00000502892	protein_coding	getma.org/?cm=var&var=hg19,5,142780106,T,C&fts=all		hmmpanther:PTHR24084:SF4,hmmpanther:PTHR24084,Pfam_domain:PF02155		N/S		C	low	1293/7286		getma.org/?cm=msa&ty=f&p=GCR_HUMAN&rb=26&re=401&var=N100S	tolerated_low_confidence(0.27)	Q3MSN4_HUMAN,F1D8N4_HUMAN,D6RDA9_HUMAN,B7Z7I2_HUMAN				NR3C1,missense_variant,p.Asn100Ser,ENST00000343796,NM_001018075.1,NM_001018077.1,NM_001018074.1;NR3C1,missense_variant,p.Asn100Ser,ENST00000394464,NM_001204262.1,NM_001024094.1,NM_000176.2,NM_001020825.1,NM_001204263.1,NM_001204264.1,NM_001204260.1,NM_001204258.1,NM_001204261.1,NM_001204259.1;NR3C1,missense_variant,p.Asn100Ser,ENST00000424646,;NR3C1,missense_variant,p.Asn100Ser,ENST00000415690,;NR3C1,missense_variant,p.Asn100Ser,ENST00000231509,;NR3C1,missense_variant,p.Asn100Ser,ENST00000504572,;NR3C1,missense_variant,p.Asn100Ser,ENST00000394466,;NR3C1,missense_variant,p.Asn100Ser,ENST00000503201,NM_001018076.1;NR3C1,missense_variant,p.Asn100Ser,ENST00000514699,;NR3C1,missense_variant,p.Asn100Ser,ENST00000510170,;NR3C1,missense_variant,p.Asn100Ser,ENST00000502500,;NR3C1,missense_variant,p.Asn100Ser,ENST00000508760,;NR3C1,missense_variant,p.Asn100Ser,ENST00000502892,;NR3C1,intron_variant,,ENST00000416954,;							MODERATE	299/2334	N100S	GCR_HUMAN			Transcript		benign(0.047)	.	ENSP00000343205		CCDS4278.1			1	
PPARG	0	LGGM	GRCh37	3	12447529	12447529	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	42	17	.	.	ENST00000287820.6:c.768G>T	p.Leu256=	p.L256=	ENST00000287820	NM_015869.4	256	ctG/ctT	0	1	1	UPI0000055911	0		ENST00000287820		ENSG00000132170	9236		59			HGNC	p.L228L		PPARG		SNV			1				ENST00000397010	protein_coding			Prints_domain:PR01288,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF14,Superfamily_domains:SSF48508		L		T		889/1850				Q9UEF6_HUMAN,Q6L9M1_HUMAN,E9PFJ1_HUMAN,E7EUD1_HUMAN,E7EU07_HUMAN,D2KUA6_HUMAN			YES	PPARG,synonymous_variant,p.=,ENST00000397026,;PPARG,synonymous_variant,p.=,ENST00000397010,;PPARG,synonymous_variant,p.=,ENST00000397012,NM_138711.3;PPARG,synonymous_variant,p.=,ENST00000309576,NM_138712.3;PPARG,synonymous_variant,p.=,ENST00000287820,NM_015869.4;PPARG,synonymous_variant,p.=,ENST00000397015,NM_005037.5;PPARG,synonymous_variant,p.=,ENST00000397000,;PPARG,synonymous_variant,p.=,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,;							LOW	768/1518		PPARG_HUMAN			Transcript			.	ENSP00000287820		CCDS2609.1			1	
TMEM194A	0	LGGM	GRCh37	12	57454725	57454725	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	24	17	.	.	ENST00000300128.4:c.984G>A	p.Lys328=	p.K328=	ENST00000300128	NM_001130963.1	328	aaG/aaA	0	1	1	UPI0000185F02	0		ENST00000300128		ENSG00000166881	29001		41			HGNC	p.K328K		TMEM194A		SNV							ENST00000300128	protein_coding			hmmpanther:PTHR13598,hmmpanther:PTHR13598:SF2,Pfam_domain:PF10225		K		T		1008/5590							YES	TMEM194A,synonymous_variant,p.=,ENST00000300128,NM_001130963.1;TMEM194A,synonymous_variant,p.=,ENST00000379391,NM_015257.2;TMEM194A,3_prime_UTR_variant,,ENST00000554340,;							LOW	984/1335		T194A_HUMAN			Transcript			.	ENSP00000300128		CCDS44927.1			1	
MSH3	0	LGGM	GRCh37	5	80074612	80074612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	12	18	.	.	ENST00000265081.6:c.2392C>A	p.Gln798Lys	p.Q798K	ENST00000265081	NM_002439.4	798	Cag/Aag	0	1	1	UPI0000DBEE85	0	getma.org/pdb.php?prot=MSH3_HUMAN&from=710&to=798&var=Q798K	ENST00000265081		ENSG00000113318	7326		30	1.135		HGNC	p.Q798K		MSH3		SNV			1				ENST00000265081	protein_coding	getma.org/?cm=var&var=hg19,5,80074612,C,A&fts=all		Superfamily_domains:SSF48334,SMART_domains:SM00533,Pfam_domain:PF05192,hmmpanther:PTHR11361,hmmpanther:PTHR11361:SF34		Q/K		A	low	2472/4092		getma.org/?cm=msa&ty=f&p=MSH3_HUMAN&rb=710&re=798&var=Q798K	tolerated(0.11)				YES	MSH3,missense_variant,p.Gln798Lys,ENST00000265081,NM_002439.4;							MODERATE	2392/3414	Q798K	MSH3_HUMAN			Transcript		benign(0.1)	.	ENSP00000265081		CCDS34195.1			1	
PSG2	0	LGGM	GRCh37	19	43570745	43570745	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	166	20	.	.	ENST00000406487.1:c.972A>G	p.Thr324=	p.T324=	ENST00000406487	NM_031246.3	324	acA/acG	0	1	1	UPI000013CCF5	0		ENST00000406487		ENSG00000242221	9519		186			HGNC	p.T324T		PSG2		SNV							ENST00000406487	protein_coding			hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF109		T		C		1071/1538							YES	PSG2,synonymous_variant,p.=,ENST00000406487,NM_031246.3;PSG2,synonymous_variant,p.=,ENST00000329509,;							LOW	972/1008		PSG2_HUMAN			Transcript			.	ENSP00000385706		CCDS12616.1			1	
CCBL2	0	LGGM	GRCh37	1	89427146	89427146	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	34	20	.	.	ENST00000260508.4:c.584T>G	p.Leu195Ter	p.L195*	ENST00000260508	NM_001008661.2	195	tTa/tGa	0	1	1	UPI0000155712	0	NA	ENST00000260508		ENSG00000137944	33238		54	0		HGNC	p.L195X		CCBL2		SNV							ENST00000260508	protein_coding	getma.org/?cm=var&var=hg19,1,89427146,A,C&fts=all		Gene3D:3.40.640.10,Pfam_domain:PF00155,hmmpanther:PTHR11751,hmmpanther:PTHR11751:SF336,Superfamily_domains:SSF53383		L/*		C	NA	922/2070		NA		B4DW13_HUMAN			YES	CCBL2,stop_gained,p.Leu195Ter,ENST00000260508,NM_001008661.2;CCBL2,stop_gained,p.Leu161Ter,ENST00000370491,NM_001008662.2;CCBL2,stop_gained,p.Leu195Ter,ENST00000370486,;CCBL2,3_prime_UTR_variant,,ENST00000370485,;CCBL2,non_coding_transcript_exon_variant,,ENST00000446900,;							HIGH	584/1365	L195*	KAT3_HUMAN			Transcript			.	ENSP00000260508		CCDS30766.1			1	
FAM122A	0	LGGM	GRCh37	9	71395542	71395542	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	34	22	.	.	ENST00000394264.3:c.462del	p.Lys154AsnfsTer12	p.K154Nfs*12	ENST00000394264	NM_138333.3	154	aaG/aa	0	1	1	UPI0000071E32	0		ENST00000394264		ENSG00000187866	23490		56			HGNC	p.K154fs		FAM122A		deletion							ENST00000394264	protein_coding			hmmpanther:PTHR22227:SF3,hmmpanther:PTHR22227		K/X		-		579/3646				B4E242_HUMAN			YES	FAM122A,frameshift_variant,p.Lys154AsnfsTer12,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,;							HIGH	462/864		F122A_HUMAN			Transcript			.	ENSP00000377807		CCDS6623.1			1	
FMN2	0	LGGM	GRCh37	1	240370914	240370946	+	inframe_deletion	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	novel	by Submitter	H104656	H104656N.bam	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	21	31	.	.	ENST00000319653.9:c.2822_2854delGAATACCTCCTCCGCCCCCTCTACCCGGAGCGG	p.Gly941_Ala951del	p.G941_A951del	ENST00000319653	NM_020066.4	934	ctGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCg/ctg	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		52			HGNC	p.934_945del	rs562038978,COSM1340565	FMN2		deletion	-:0.3357		1			0,1	ENST00000319653	protein_coding			Pfam_domain:PF06346,Prints_domain:PR01217,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,Low_complexity_(Seg):seg,SMART_domains:SM00498		LPPLPGAGIPPP/L	-:0.2564	-		3032-3064/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,inframe_deletion,p.Gly941_Ala951del,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;					0,1		MODERATE	2802-2834/5169		FMN2_HUMAN			Transcript	20		.	ENSP00000318884		CCDS31069.2			1	
C20orf194	0	LGGM	GRCh37	20	3262312	3262312	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	21	25	.	.	ENST00000252032.9:c.2587C>T	p.Pro863Ser	p.P863S	ENST00000252032	NM_001009984.2	863	Ccc/Tcc	0	1	1	UPI0000470A8D	0	NA	ENST00000252032		ENSG00000088854	17721		46	1.955		HGNC	p.P863S		C20orf194		SNV							ENST00000252032	protein_coding	getma.org/?cm=var&var=hg19,20,3262312,G,A&fts=all				P/S		A	medium	2655/6869		getma.org/?cm=msa&ty=f&p=CT194_HUMAN&rb=801&re=1000&var=P863S	deleterious(0)	Q3KQR5_HUMAN			YES	C20orf194,missense_variant,p.Pro863Ser,ENST00000252032,NM_001009984.2;C20orf194,3_prime_UTR_variant,,ENST00000453730,;RN7SL839P,downstream_gene_variant,,ENST00000582912,;							MODERATE	2587/3534	P863S	CT194_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000252032		CCDS42851.1			1	
WIZ	0	LGGM	GRCh37	19	15559055	15559055	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	10	25	.	.	ENST00000263381.7:c.64C>T	p.Pro22Ser	p.P22S	ENST00000263381	NM_021241.2	22	Cct/Tct	0	1	1	UPI000041F888	0		ENST00000263381		ENSG00000011451	30917		35			HGNC	p.P22S	rs778850522	WIZ		SNV							ENST00000263381	protein_coding					P/S		A		278/4152			deleterious_low_confidence(0.01)	M0QXF8_HUMAN			YES	WIZ,missense_variant,p.Pro22Ser,ENST00000389282,;WIZ,missense_variant,p.Pro22Ser,ENST00000263381,NM_021241.2;WIZ,missense_variant,p.Pro22Ser,ENST00000596159,;RASAL3,downstream_gene_variant,,ENST00000343625,NM_022904.1;RASAL3,downstream_gene_variant,,ENST00000609274,;RASAL3,downstream_gene_variant,,ENST00000599694,;MIR1470,upstream_gene_variant,,ENST00000600745,;RASAL3,downstream_gene_variant,,ENST00000602101,;	0.000466						MODERATE	64/2385		WIZ_HUMAN			Transcript		probably_damaging(0.932)	common_variant	ENSP00000263381	3.31E-05	CCDS42516.1			1	
LRP1B	0	LGGM	GRCh37	2	141215173	141215173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	6	26	.	.	ENST00000389484.3:c.9673G>A	p.Asp3225Asn	p.D3225N	ENST00000389484	NM_018557.2	3225	Gac/Aac	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3097&to=3296&var=D3225N	ENST00000389484		ENSG00000168702	6693		32	1.545		HGNC	p.D3225N		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141215173,C,T&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,SMART_domains:SM00135,Superfamily_domains:SSF63825		D/N		T	low	10645/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3097&re=3296&var=D3225N		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			YES	LRP1B,missense_variant,p.Asp3225Asn,ENST00000389484,NM_018557.2;							MODERATE	9673/13800	D3225N	LRP1B_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000374135		CCDS2182.1			1	
ZSCAN29	0	LGGM	GRCh37	15	43662007	43662007	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	33	26	.	.	ENST00000396976.2:c.105T>G	p.Ala35=	p.A35=	ENST00000396976	NM_152455.3	35	gcT/gcG	0	1	1	UPI0000DA5AF5	0		ENST00000396976		ENSG00000140265	26673		59			HGNC	p.A34A		ZSCAN29		SNV							ENST00000562072	protein_coding			PROSITE_profiles:PS50804,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF209,Pfam_domain:PF02023,SMART_domains:SM00431,Superfamily_domains:SSF47353		A		C		240/5595				Q96AG1_HUMAN,H3BVH1_HUMAN			YES	ZSCAN29,synonymous_variant,p.=,ENST00000396976,NM_152455.3;ZSCAN29,synonymous_variant,p.=,ENST00000396972,;ZSCAN29,synonymous_variant,p.=,ENST00000562072,;ZSCAN29,synonymous_variant,p.=,ENST00000568898,;TUBGCP4,upstream_gene_variant,,ENST00000564079,NM_014444.2;TUBGCP4,upstream_gene_variant,,ENST00000260383,NM_001286414.1;ZSCAN29,upstream_gene_variant,,ENST00000570181,;ZSCAN29,downstream_gene_variant,,ENST00000561661,;TUBGCP4,intron_variant,,ENST00000570081,;ZSCAN29,downstream_gene_variant,,ENST00000563508,;ZSCAN29,synonymous_variant,p.=,ENST00000566849,;TUBGCP4,upstream_gene_variant,,ENST00000563517,;							LOW	105/2559		ZSC29_HUMAN			Transcript			.	ENSP00000380174		CCDS10095.2			1	
CASC5	0	LGGM	GRCh37	15	40914273	40914273	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	11	27	.	.	ENST00000346991.5:c.1889A>C	p.Gln630Pro	p.Q630P	ENST00000346991		630	cAg/cCg	0	1	1	UPI0000E59BD3	0	NA	ENST00000346991		ENSG00000137812	24054		38	0.69		HGNC	p.Q630P		CASC5		SNV			1				ENST00000346991	protein_coding	getma.org/?cm=var&var=hg19,15,40914273,A,C&fts=all		hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2,Low_complexity_(Seg):seg		Q/P		C	neutral	2279/9573		getma.org/?cm=msa&ty=f&p=CASC5_HUMAN&rb=1&re=2177&var=Q630P	tolerated(0.27)				YES	CASC5,missense_variant,p.Gln630Pro,ENST00000346991,;CASC5,missense_variant,p.Gln604Pro,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,3_prime_UTR_variant,,ENST00000527044,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;							MODERATE	1889/7029	Q630P	CASC5_HUMAN			Transcript		benign(0.001)	.	ENSP00000335463		CCDS42023.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33620409	33620409	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	39	30	.	.	ENST00000321505.4:c.3904G>T	p.Gly1302Trp	p.G1302W	ENST00000321505		1302	Ggg/Tgg	0	1	1	UPI0000E59322	0	NA	ENST00000321505		ENSG00000110427	24836		69	1.87		HGNC	p.G1308W		KIAA1549L		SNV							ENST00000389726	protein_coding	getma.org/?cm=var&var=hg19,11,33620409,G,T&fts=all		Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		G/W		T	low	4084/11678		getma.org/?cm=msa&ty=f&p=CK041_HUMAN&rb=930&re=1569&var=G1302W	deleterious(0)				YES	KIAA1549L,missense_variant,p.Gly1302Trp,ENST00000321505,;KIAA1549L,missense_variant,p.Gly1308Trp,ENST00000389726,NM_012194.2;KIAA1549L,missense_variant,p.Gly700Trp,ENST00000526400,;KIAA1549L,3_prime_UTR_variant,,ENST00000265654,;							MODERATE	3904/5550	G1302W	K154L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315295		CCDS44565.2			1	
OXA1L	0	LGGM	GRCh37	14	23235765	23235765	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	29	32	.	.	ENST00000285848.5:c.35C>A	p.Ser12Ter	p.S12*	ENST00000285848	NM_005015.3	12	tCa/tAa	0	1	1	UPI000013DE11	0	NA	ENST00000285848		ENSG00000155463	8526		61	0		HGNC	p.S12X		OXA1L		SNV							ENST00000285848	protein_coding	getma.org/?cm=var&var=hg19,14,23235765,C,A&fts=all				S/*		A	NA	35/1728		NA		S4R3Q9_HUMAN,J3KNA0_HUMAN,C9JC63_HUMAN			YES	OXA1L,stop_gained,p.Ser12Ter,ENST00000285848,NM_005015.3;OXA1L,upstream_gene_variant,,ENST00000358043,;OXA1L,upstream_gene_variant,,ENST00000604262,;OXA1L,upstream_gene_variant,,ENST00000412791,;OXA1L,upstream_gene_variant,,ENST00000431881,;CTD-2555K7.2,non_coding_transcript_exon_variant,,ENST00000554857,;CTD-2555K7.2,non_coding_transcript_exon_variant,,ENST00000553792,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554730,;OXA1L,upstream_gene_variant,,ENST00000495424,;OXA1L,upstream_gene_variant,,ENST00000481218,;OXA1L,upstream_gene_variant,,ENST00000483939,;OXA1L,upstream_gene_variant,,ENST00000473744,;OXA1L,upstream_gene_variant,,ENST00000442110,;OXA1L,upstream_gene_variant,,ENST00000556473,;CTD-2555K7.2,upstream_gene_variant,,ENST00000554194,;OXA1L,upstream_gene_variant,,ENST00000557299,;							HIGH	35/1488	S12*				Transcript			.	ENSP00000285848		CCDS9573.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232650671	232650671	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	58	33	.	.	ENST00000366630.1:c.415del	p.Tyr139ThrfsTer18	p.Y139Tfs*18	ENST00000366630		139	Tac/ac	0	1		UPI00001D7D6A	0		ENST00000262861		ENSG00000116991	23800		91			HGNC	p.Y139fs		SIPA1L2		deletion							ENST00000366630	protein_coding			hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		Y/X		-		642/6555								SIPA1L2,frameshift_variant,p.Tyr139ThrfsTer18,ENST00000366630,;SIPA1L2,frameshift_variant,p.Tyr139ThrfsTer18,ENST00000262861,NM_020808.3;							HIGH	415/5169		SI1L2_HUMAN			Transcript			.	ENSP00000262861		CCDS41474.1			1	
ATP10B	0	LGGM	GRCh37	5	160047854	160047854	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	21	34	.	.	ENST00000327245.5:c.1916C>A	p.Ser639Tyr	p.S639Y	ENST00000327245	NM_025153.2	639	tCc/tAc	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		55	2.375		HGNC	p.S247Y		ATP10B		SNV							ENST00000520108	protein_coding	getma.org/?cm=var&var=hg19,5,160047854,G,T&fts=all		Pfam_domain:PF12710,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092,Low_complexity_(Seg):seg		S/Y		T	medium	2763/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=430&re=1064&var=S639Y	deleterious(0)				YES	ATP10B,missense_variant,p.Ser639Tyr,ENST00000327245,NM_025153.2;ATP10B,missense_variant,p.Ser247Tyr,ENST00000520108,;CTC-348L5.1,intron_variant,,ENST00000523598,;							MODERATE	1916/4386	S639Y	AT10B_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000313600		CCDS43394.1			1	
AKAP4	0	LGGM	GRCh37	X	49957898	49957898	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	27	35	.	.	ENST00000358526.2:c.1466C>A	p.Ser489Ter	p.S489*	ENST00000358526	NM_003886.2	489	tCa/tAa	0	1	1	UPI000013DA96	0	NA	ENST00000358526		ENSG00000147081	374		62	0		HGNC	p.S480X		AKAP4		SNV							ENST00000376056	protein_coding	getma.org/?cm=var&var=hg19,X,49957898,G,T&fts=all		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807		S/*		T	NA	1590/2881		NA					YES	AKAP4,stop_gained,p.Ser480Ter,ENST00000376056,;AKAP4,stop_gained,p.Ser489Ter,ENST00000358526,NM_003886.2;AKAP4,stop_gained,p.Ser480Ter,ENST00000376064,NM_139289.1;AKAP4,intron_variant,,ENST00000376058,;AKAP4,intron_variant,,ENST00000448865,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;							HIGH	1466/2565	S489*	AKAP4_HUMAN			Transcript			.	ENSP00000351327		CCDS14329.1			1	
NRXN1	0	LGGM	GRCh37	2	50724774	50724774	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	67	37	.	.	ENST00000404971.1:c.2696C>A	p.Ser899Tyr	p.S899Y	ENST00000404971	NM_001135659.1	899	tCt/tAt	0	1		UPI0000130A9D	0	getma.org/pdb.php?prot=NRX1A_HUMAN&from=746&to=877&var=S859Y	ENST00000406316		ENSG00000179915	8008		104	2.455		HGNC	p.S859Y		NRXN1		SNV			1				ENST00000401669	protein_coding	getma.org/?cm=var&var=hg19,2,50724774,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899		S/Y		T	medium	4053/7505		getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=746&re=877&var=S859Y	deleterious(0)	Q08AH0_HUMAN				NRXN1,missense_variant,p.Ser899Tyr,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Ser859Tyr,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Ser859Tyr,ENST00000401669,;NRXN1,missense_variant,p.Ser851Tyr,ENST00000405472,;NRXN1,missense_variant,p.Ser851Tyr,ENST00000402717,;NRXN1,missense_variant,p.Ser859Tyr,ENST00000406859,;NRXN1,upstream_gene_variant,,ENST00000401710,;NRXN1,non_coding_transcript_exon_variant,,ENST00000331040,;NRXN1,downstream_gene_variant,,ENST00000495871,;NRXN1,downstream_gene_variant,,ENST00000462791,;NRXN1,non_coding_transcript_exon_variant,,ENST00000474354,;							MODERATE	2576/4434	S859Y	NRX1A_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000384311		CCDS54360.1			1	
WWC2	0	LGGM	GRCh37	4	184233493	184233493	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	74	41	.	.	ENST00000403733.3:c.3385-1G>A		p.X1129_splice	ENST00000403733	NM_024949.5			0	1	1	UPI000022C4C2	0		ENST00000403733		ENSG00000151718	24148		115			HGNC	-		WWC2		SNV							ENST00000403733	protein_coding							A		-/8826							YES	WWC2,splice_acceptor_variant,,ENST00000403733,NM_024949.5;WWC2,splice_acceptor_variant,,ENST00000448232,;WWC2,splice_acceptor_variant,,ENST00000504005,;WWC2,splice_acceptor_variant,,ENST00000513834,;WWC2,splice_acceptor_variant,,ENST00000508747,;WWC2,splice_acceptor_variant,,ENST00000427431,;WWC2,splice_acceptor_variant,,ENST00000438543,;							HIGH	3385/3579		WWC2_HUMAN			Transcript			.	ENSP00000384222		CCDS34109.2			1	
CLEC4M	0	LGGM	GRCh37	19	7831001	7831001	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	82	46	.	.	ENST00000327325.5:c.692T>C	p.Leu231Pro	p.L231P	ENST00000327325	NM_001144909.1	231	cTg/cCg	0	1	1	UPI0000073C48	0	getma.org/pdb.php?prot=CLC4M_HUMAN&from=201&to=284&var=L231P	ENST00000327325		ENSG00000104938	13523		128	2.42		HGNC	p.L219P		CLEC4M		SNV							ENST00000394122	protein_coding	getma.org/?cm=var&var=hg19,19,7831001,T,C&fts=all		hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF200,Superfamily_domains:SSF56436		L/P		C	medium	810/1935		getma.org/?cm=msa&ty=f&p=CLC4M_HUMAN&rb=201&re=284&var=L231P	deleterious(0.02)				YES	CLEC4M,missense_variant,p.Leu231Pro,ENST00000327325,NM_001144909.1,NM_014257.4;CLEC4M,missense_variant,p.Leu219Pro,ENST00000394122,;CLEC4M,missense_variant,p.Leu209Pro,ENST00000248228,NM_001144910.1,NM_001144905.1;CLEC4M,missense_variant,p.Leu231Pro,ENST00000357361,NM_001144908.1;CLEC4M,missense_variant,p.Leu180Pro,ENST00000334806,NM_001144904.1;CLEC4M,missense_variant,p.Leu187Pro,ENST00000359059,NM_001144906.1,NM_001144907.1;CLEC4M,missense_variant,p.Leu203Pro,ENST00000596363,NM_001144911.1;CLEC4M,missense_variant,p.Leu203Pro,ENST00000595751,;CLEC4M,intron_variant,,ENST00000596707,;CLEC4M,intron_variant,,ENST00000597522,;CLEC4M,intron_variant,,ENST00000595496,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000601089,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,;CLEC4M,upstream_gene_variant,,ENST00000602143,;							MODERATE	692/1200	L231P	CLC4M_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000316228		CCDS12187.1			1	
SNRPC	0	LGGM	GRCh37	6	34725652	34725652	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H104656	H104656N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	43	57	.	.	ENST00000244520.5:c.9-37G>A		*3*	ENST00000244520	NM_003093.2			0	1	1	UPI00001352E7	0		ENST00000244520		ENSG00000124562	11157		100			HGNC	p.G12D		SNRPC		SNV							ENST00000374017	protein_coding							A		-/842				Q5TAL4_HUMAN,Q5TAL2_HUMAN			YES	SNRPC,missense_variant,p.Gly12Asp,ENST00000374017,;SNRPC,intron_variant,,ENST00000244520,NM_003093.2;SNRPC,intron_variant,,ENST00000374018,;SNRPC,upstream_gene_variant,,ENST00000474635,;							MODIFIER	-/480		RU1C_HUMAN			Transcript			.	ENSP00000244520		CCDS34436.1			1	
ZNF724P	0	LGGM	GRCh37	19	23414987	23414987	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104656	H104656N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	200	67	.	.	ENST00000418100.1:c.112A>G	p.Arg38Gly	p.R38G	ENST00000418100		38	Aga/Gga	0	1	1	UPI0000EE61E4	0		ENST00000418100		ENSG00000196081	32460		267			HGNC	p.R38G		ZNF724P		SNV							ENST00000418100	protein_coding			PROSITE_profiles:PS50805,hmmpanther:PTHR24384:SF101,hmmpanther:PTHR24384,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		R/G		C		230/2764			deleterious(0.04)	M0R3J2_HUMAN			YES	ZNF724P,missense_variant,p.Arg38Gly,ENST00000418100,;ZNF724P,missense_variant,p.Arg38Gly,ENST00000597037,;ZNF724P,missense_variant,p.Arg32Gly,ENST00000597537,;RP11-15H20.3,upstream_gene_variant,,ENST00000601117,;							MODERATE	112/1860		ZN724_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000413411					1	
CLIP1	0	LGGM	GRCh37	12	122812816	122812816	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104656	H104656N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	122	81	.	.	ENST00000540338.1:c.3025T>G	p.Ser1009Ala	p.S1009A	ENST00000540338		1009	Tcg/Gcg	0	1	1	UPI0000E00D4E	0	NA	ENST00000540338		ENSG00000130779	10461		203	0.69		HGNC	p.S998A		CLIP1		SNV			1				ENST00000302528	protein_coding	getma.org/?cm=var&var=hg19,12,122812816,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18916,hmmpanther:PTHR18916:SF30,Low_complexity_(Seg):seg		S/A		C	neutral	3067/4400		getma.org/?cm=msa&ty=f&p=CLIP1_HUMAN&rb=880&re=1079&var=S1009A	tolerated(0.78)	F5H367_HUMAN,F5H270_HUMAN			YES	CLIP1,missense_variant,p.Ser998Ala,ENST00000358808,NM_002956.2,NM_001247997.1;CLIP1,missense_variant,p.Ser998Ala,ENST00000302528,;CLIP1,missense_variant,p.Ser887Ala,ENST00000361654,NM_198240.1;CLIP1,missense_variant,p.Ser963Ala,ENST00000537178,;CLIP1,missense_variant,p.Ser584Ala,ENST00000545889,;CLIP1,missense_variant,p.Ser1009Ala,ENST00000540338,;CLIP1,downstream_gene_variant,,ENST00000540304,;RP11-512M8.3,upstream_gene_variant,,ENST00000537123,;							MODERATE	3025/4317	S1009A	CLIP1_HUMAN			Transcript		benign(0.011)	.	ENSP00000439093		CCDS58285.1			1	
OR2L3	0	LGGM	GRCh37	1	248224163	248224163	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104656	H104656N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104656N.bam, H104656T.bam	Illumina HiSeq	218	132	.	.	ENST00000359959.3:c.180C>T	p.Phe60=	p.F60=	ENST00000359959	NM_001004687.1	60	ttC/ttT	0	1	1	UPI0000061EB8	0		ENST00000359959		ENSG00000198128	15009		350			HGNC	p.F60F	COSM3486924	OR2L3		SNV						1	ENST00000359959	protein_coding			Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF104,hmmpanther:PTHR26453,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		F		T		180/939							YES	OR2L3,synonymous_variant,p.=,ENST00000359959,NM_001004687.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;					1		LOW	180/939		OR2L3_HUMAN			Transcript			.	ENSP00000353044		CCDS31104.1			1	
NES	0	LGGM	GRCh37	1	156640665	156640665	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104773	H104773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	4	2	.	.	ENST00000368223.3:c.3315G>T	p.Val1105=	p.V1105=	ENST00000368223	NM_006617.1	1105	gtG/gtT	0	1	1	UPI0000213DC0	0		ENST00000368223		ENSG00000132688	7756		6			HGNC	p.V1105V		NES		SNV							ENST00000368223	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF131,Low_complexity_(Seg):seg		V		A		3448/5558				Q2YDX4_HUMAN			YES	NES,synonymous_variant,p.=,ENST00000368223,NM_006617.1;							LOW	3315/4866		NEST_HUMAN			Transcript			.	ENSP00000357206		CCDS1151.1			1	
ADNP2	0	LGGM	GRCh37	18	77894276	77894276	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	42	3	.	.	ENST00000262198.4:c.980G>A	p.Gly327Asp	p.G327D	ENST00000262198	NM_014913.3	327	gGc/gAc	0	1	1	UPI0000071DEA	0	NA	ENST00000262198		ENSG00000101544	23803		45	0.345		HGNC	p.G327D		ADNP2		SNV							ENST00000262198	protein_coding	getma.org/?cm=var&var=hg19,18,77894276,G,A&fts=all		hmmpanther:PTHR15740:SF2,hmmpanther:PTHR15740		G/D		A	neutral	1435/5393		getma.org/?cm=msa&ty=f&p=ADNP2_HUMAN&rb=201&re=400&var=G327D	tolerated(0.08)	H0YLN6_HUMAN			YES	ADNP2,missense_variant,p.Gly327Asp,ENST00000262198,NM_014913.3;ADNP2,intron_variant,,ENST00000561195,;ADNP2,downstream_gene_variant,,ENST00000560752,;ADNP2,downstream_gene_variant,,ENST00000559951,;ADNP2,downstream_gene_variant,,ENST00000560561,;							MODERATE	980/3396	G327D	ADNP2_HUMAN			Transcript		benign(0.004)	.	ENSP00000262198		CCDS32853.1			1	
ERMP1	0	LGGM	GRCh37	9	5787443	5787443	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104773	H104773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	34	3	.	.	ENST00000339450.5:c.2537G>T	p.Trp846Leu	p.W846L	ENST00000339450	NM_024896.2	846	tGg/tTg	0	1	1	UPI00001D7694	0	NA	ENST00000339450		ENSG00000099219	23703		37	1.59		HGNC	p.W846L		ERMP1		SNV							ENST00000462592	protein_coding	getma.org/?cm=var&var=hg19,9,5787443,C,A&fts=all		hmmpanther:PTHR12147,hmmpanther:PTHR12147:SF6		W/L		A	low	2627/5376		getma.org/?cm=msa&ty=f&p=ERMP1_HUMAN&rb=770&re=904&var=W846L	deleterious(0)	D3DRI3_HUMAN			YES	ERMP1,missense_variant,p.Trp846Leu,ENST00000339450,NM_024896.2;ERMP1,3_prime_UTR_variant,,ENST00000381506,;ERMP1,3_prime_UTR_variant,,ENST00000543230,;ERMP1,non_coding_transcript_exon_variant,,ENST00000214893,;ERMP1,missense_variant,p.Trp846Leu,ENST00000462592,;ERMP1,3_prime_UTR_variant,,ENST00000489219,;ERMP1,3_prime_UTR_variant,,ENST00000487088,;							MODERATE	2537/2715	W846L	ERMP1_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000340427		CCDS34983.1			1	
FAM86B2	0	LGGM	GRCh37	8	12286347	12286347	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	28	3	.	.	ENST00000262365.4:c.537C>T	p.Cys179=	p.C179=	ENST00000262365	NM_001137610.1	179	tgC/tgT	0	1	1	UPI00006C0D80	0		ENST00000262365		ENSG00000145002	32222		31			HGNC	p.C145C		FAM86B2		SNV							ENST00000351291	protein_coding			Gene3D:3.40.50.150,Pfam_domain:PF10294,hmmpanther:PTHR23109,hmmpanther:PTHR23109:SF2,Superfamily_domains:SSF53335		C		A		537/1268							YES	FAM86B2,synonymous_variant,p.=,ENST00000262365,NM_001137610.1;FAM86B2,synonymous_variant,p.=,ENST00000351291,;FAM86B2,synonymous_variant,p.=,ENST00000527331,;FAM86B2,intron_variant,,ENST00000393715,;FAM86B2,intron_variant,,ENST00000309608,;FAM86B2,intron_variant,,ENST00000532480,;ALG1L12P,downstream_gene_variant,,ENST00000515046,;							LOW	537/993		F86B2_HUMAN			Transcript			.	ENSP00000262365		CCDS59092.1			1	
GOLGA6L6	0	LGGM	GRCh37	15	20743823	20743823	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	9	4	.	.	ENST00000427390.2:c.381C>A	p.Ala127=	p.A127=	ENST00000427390	NM_001145004.1	127	gcC/gcA	0	1	1	UPI000192952E	0		ENST00000427390		ENSG00000215405	37225		13			HGNC	p.A127A		GOLGA6L6		SNV							ENST00000427390	protein_coding			hmmpanther:PTHR23143,hmmpanther:PTHR23143:SF9		A		T		472/4091							YES	GOLGA6L6,splice_region_variant,p.=,ENST00000427390,NM_001145004.1;							LOW	381/2253		GG6L6_HUMAN			Transcript			.	ENSP00000398615		CCDS45184.1			1	
ESYT3	0	LGGM	GRCh37	3	138180987	138180987	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	29	4	.	.	ENST00000389567.4:c.854G>T	p.Arg285Leu	p.R285L	ENST00000389567	NM_031913.3	285	cGt/cTt	0	1	1	UPI0000251E45	0	NA	ENST00000389567		ENSG00000158220	24295		33	2.58		HGNC	p.R285L		ESYT3		SNV							ENST00000289135	protein_coding	getma.org/?cm=var&var=hg19,3,138180987,G,T&fts=all		hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF27		R/L		T	medium	1040/4407		getma.org/?cm=msa&ty=f&p=ESYT3_HUMAN&rb=94&re=293&var=R285L	deleterious(0)				YES	ESYT3,missense_variant,p.Arg285Leu,ENST00000389567,NM_031913.3;ESYT3,missense_variant,p.Arg285Leu,ENST00000289135,;ESYT3,missense_variant,p.Arg285Leu,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;							MODERATE	854/2661	R285L	ESYT3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000374218		CCDS3101.2			1	
ARID2	0	LGGM	GRCh37	12	46243989	46243989	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104773	H104773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	94	4	.	.	ENST00000334344.6:c.2083C>G	p.Gln695Glu	p.Q695E	ENST00000334344	NM_152641.2	695	Caa/Gaa	0	1	1	UPI00001D7973	0	NA	ENST00000334344		ENSG00000189079	18037		98	0.895		HGNC	p.Q546E		ARID2		SNV							ENST00000422737	protein_coding	getma.org/?cm=var&var=hg19,12,46243989,C,G&fts=all		hmmpanther:PTHR22970,hmmpanther:PTHR22970:SF14		Q/E		G	low	2255/8642		getma.org/?cm=msa&ty=f&p=ARID2_HUMAN&rb=584&re=783&var=Q695E	tolerated_low_confidence(0.28)	Q96SQ4_HUMAN,F8WCU9_HUMAN			YES	ARID2,missense_variant,p.Gln695Glu,ENST00000334344,NM_152641.2;ARID2,missense_variant,p.Gln305Glu,ENST00000444670,;ARID2,missense_variant,p.Gln546Glu,ENST00000422737,;ARID2,upstream_gene_variant,,ENST00000457135,;ARID2,non_coding_transcript_exon_variant,,ENST00000479608,;							MODERATE	2083/5508	Q695E	ARID2_HUMAN			Transcript		benign(0.066)	.	ENSP00000335044		CCDS31783.1			1	
SLC4A1	0	LGGM	GRCh37	17	42338151	42338151	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	45	4	.	.	ENST00000262418.6:c.201C>T	p.Asp67=	p.D67=	ENST00000262418	NM_000342.3	67	gaC/gaT	0	1	1	UPI00000375B8	0		ENST00000262418		ENSG00000004939	11027		49			HGNC	p.D67D	rs768773486	SLC4A1		SNV			1	9.71E-05			ENST00000262418	protein_coding			Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834		D		A		357/4965	1.50E-05			Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN			YES	SLC4A1,synonymous_variant,p.=,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,;							LOW	201/2736		B3AT_HUMAN			Transcript			.	ENSP00000262418	1.65E-05	CCDS11481.1			1	
MYO5B	0	LGGM	GRCh37	18	47379984	47379984	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104773	H104773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	33	4	.	.	ENST00000285039.7:c.4056G>T	p.Leu1352=	p.L1352=	ENST00000285039	NM_001080467.2	1352	ctG/ctT	0	1	1	UPI00001D7B21	0		ENST00000285039		ENSG00000167306	7603		37			HGNC	p.L1352L		MYO5B		SNV			1				ENST00000285039	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF356,Low_complexity_(Seg):seg		L		A		4356/9505				Q14782_HUMAN,Q0P656_HUMAN,K7EPI3_HUMAN			YES	MYO5B,synonymous_variant,p.=,ENST00000285039,NM_001080467.2;MYO5B,synonymous_variant,p.=,ENST00000324581,;MYO5B,synonymous_variant,p.=,ENST00000592779,;MYO5B,upstream_gene_variant,,ENST00000592688,;SCARNA17,downstream_gene_variant,,ENST00000589499,;							LOW	4056/5547		MYO5B_HUMAN			Transcript			.	ENSP00000285039		CCDS42436.1			1	
GPHN	0	LGGM	GRCh37	14	67346716	67346716	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	26	5	.	.	ENST00000478722.1:c.354A>G	p.Gly118=	p.G118=	ENST00000478722	NM_020806.4	118	ggA/ggG	0	1		UPI000012B3C7	0		ENST00000315266		ENSG00000171723	15465		31			HGNC	p.G100G		GPHN		SNV			1				ENST00000459628	protein_coding			hmmpanther:PTHR10192,hmmpanther:PTHR10192:SF5,TIGRFAM_domain:TIGR00177,Gene3D:3.40.980.10,Pfam_domain:PF00994,SMART_domains:SM00852,Superfamily_domains:SSF53218		G		G		1475/4193								GPHN,synonymous_variant,p.=,ENST00000478722,NM_020806.4;GPHN,synonymous_variant,p.=,ENST00000315266,NM_001024218.1;GPHN,synonymous_variant,p.=,ENST00000543237,;GPHN,synonymous_variant,p.=,ENST00000305960,;GPHN,synonymous_variant,p.=,ENST00000459628,;GPHN,synonymous_variant,p.=,ENST00000555456,;GPHN,non_coding_transcript_exon_variant,,ENST00000544752,;GPHN,3_prime_UTR_variant,,ENST00000553936,;GPHN,3_prime_UTR_variant,,ENST00000555668,;GPHN,3_prime_UTR_variant,,ENST00000556633,;GPHN,3_prime_UTR_variant,,ENST00000557654,;							LOW	354/2211		GEPH_HUMAN			Transcript			.	ENSP00000312771		CCDS32103.1			1	
FCGR3B	0	LGGM	GRCh37	1	161594307	161594307	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	54	5	.	.	ENST00000531221.1:c.808T>C	p.Ter270ArgextTer21	p.*270Rext*21	ENST00000531221		270	Tga/Cga	0	1		UPI0000D62032	0		ENST00000294800		ENSG00000162747	3620	8.66E-05	59			HGNC	p.X234R	rs374752953	FCGR3B		SNV	G:0			0.000778			ENST00000367964	protein_coding					*/R	G:0.0001	G		974/2289	3.00E-05			E9PNY5_HUMAN				FCGR3B,stop_lost,p.Ter234ArgextTer21,ENST00000294800,NM_001271035.1,NM_001244753.1;FCGR3B,stop_lost,p.Ter234ArgextTer21,ENST00000367964,NM_000570.4,NM_001271036.1;FCGR3B,stop_lost,p.Ter270ArgextTer21,ENST00000531221,;FCGR3B,stop_lost,p.Ter255ArgextTer21,ENST00000421702,;FCGR2B,intron_variant,,ENST00000367962,;FCGR2B,intron_variant,,ENST00000367960,;FCGR2B,intron_variant,,ENST00000403078,;FCGR3A,intron_variant,,ENST00000540048,;FCGR2B,intron_variant,,ENST00000428605,;FCGR3B,downstream_gene_variant,,ENST00000534776,;FCGR3B,downstream_gene_variant,,ENST00000533780,;RPS23P9,upstream_gene_variant,,ENST00000448848,;	0.000116						HIGH	700/702		FCG3B_HUMAN	0.000607		Transcript			common_variant	ENSP00000294800	0.000182	CCDS41433.1			1	
OR52K2	0	LGGM	GRCh37	11	4470657	4470657	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104773	H104773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	68	5	.	.	ENST00000325719.4:c.88T>C	p.Ser30Pro	p.S30P	ENST00000325719	NM_001005172.2	30	Tcc/Ccc	0	1	1	UPI000003FE0B	0	getma.org/pdb.php?prot=O52K2_HUMAN&from=1&to=143&var=S30P	ENST00000325719		ENSG00000181963	15223		73	3.1		HGNC	p.S30P		OR52K2		SNV							ENST00000325719	protein_coding	getma.org/?cm=var&var=hg19,11,4470657,T,C&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF11,Transmembrane_helices:TMhelix		S/P		C	medium	133/1067		getma.org/?cm=msa&ty=f&p=O52K2_HUMAN&rb=1&re=143&var=S30P	deleterious(0.01)				YES	OR52K2,missense_variant,p.Ser30Pro,ENST00000325719,NM_001005172.2;AC010930.1,downstream_gene_variant,,ENST00000408103,;							MODERATE	88/945	S30P	O52K2_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000318956		CCDS31351.1			1	
MAP1S	0	LGGM	GRCh37	19	17838700	17838700	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	21	5	.	.	ENST00000324096.4:c.2507A>G	p.Asp836Gly	p.D836G	ENST00000324096	NM_018174.4	836	gAc/gGc	0	1	1	UPI00002036F9	0	NA	ENST00000324096		ENSG00000130479	15715		26	1.1		HGNC	p.D810G		MAP1S		SNV							ENST00000544059	protein_coding	getma.org/?cm=var&var=hg19,19,17838700,A,G&fts=all		hmmpanther:PTHR13843,Low_complexity_(Seg):seg		D/G		G	low	2658/3419		getma.org/?cm=msa&ty=f&p=MAP1S_HUMAN&rb=15&re=1057&var=D836G	tolerated(0.37)				YES	MAP1S,missense_variant,p.Asp836Gly,ENST00000324096,NM_018174.4;MAP1S,missense_variant,p.Asp810Gly,ENST00000544059,;MAP1S,intron_variant,,ENST00000597735,;MAP1S,intron_variant,,ENST00000597000,;MAP1S,downstream_gene_variant,,ENST00000600186,;MAP1S,downstream_gene_variant,,ENST00000594625,;CTD-3149D2.4,non_coding_transcript_exon_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,;							MODERATE	2507/3180	D836G	MAP1S_HUMAN			Transcript		benign(0.085)	.	ENSP00000325313		CCDS32954.1			1	
SRRD	0	LGGM	GRCh37	22	26887012	26887012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	16	5	.	.	ENST00000215917.7:c.786G>T	p.Gln262His	p.Q262H	ENST00000215917	NM_001013694.2	262	caG/caT	0	1	1	UPI00000723CF	0	NA	ENST00000215917		ENSG00000100104	33910		21	1.355		HGNC	p.Q262H		SRRD		SNV							ENST00000215917	protein_coding	getma.org/?cm=var&var=hg19,22,26887012,G,T&fts=all				Q/H		T	low	800/4020		getma.org/?cm=msa&ty=f&p=SRR1L_HUMAN&rb=196&re=339&var=Q262H	tolerated(0.08)				YES	SRRD,missense_variant,p.Gln262His,ENST00000215917,NM_001013694.2;TFIP11,downstream_gene_variant,,ENST00000407690,NM_012143.2;TFIP11,downstream_gene_variant,,ENST00000407431,;TFIP11,downstream_gene_variant,,ENST00000405938,NM_001008697.1;TFIP11,downstream_gene_variant,,ENST00000407148,;SRRD,non_coding_transcript_exon_variant,,ENST00000471799,;SRRD,non_coding_transcript_exon_variant,,ENST00000477945,;TFIP11,downstream_gene_variant,,ENST00000492137,;							MODERATE	786/1020	Q262H	SRR1L_HUMAN			Transcript		benign(0.03)	.	ENSP00000215917		CCDS42995.1			1	
BAI3	0	LGGM	GRCh37	6	69348929	69348929	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104773	H104773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	17	6	.	.	ENST00000370598.1:c.362T>A	p.Leu121Gln	p.L121Q	ENST00000370598	NM_001704.2	121	cTa/cAa	0	1	1	UPI00001AE6A9	0	NA	ENST00000370598		ENSG00000135298	945		23	1.79		HGNC	p.L121Q		BAI3		SNV							ENST00000370598	protein_coding	getma.org/?cm=var&var=hg19,6,69348929,T,A&fts=all		PROSITE_profiles:PS01180		L/Q		A	low	1183/6010		getma.org/?cm=msa&ty=f&p=BAI3_HUMAN&rb=1&re=266&var=L121Q	deleterious(0)	S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,missense_variant,p.Leu121Gln,ENST00000370598,NM_001704.2;RP3-525N10.2,upstream_gene_variant,,ENST00000604392,;RP3-525N10.2,upstream_gene_variant,,ENST00000603261,;RP3-525N10.2,upstream_gene_variant,,ENST00000419979,;							MODERATE	362/4569	L121Q	BAI3_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000359630		CCDS4968.1			1	
ZBTB24	0	LGGM	GRCh37	6	109787443	109787443	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	73	6	.	.	ENST00000230122.3:c.1705C>A	p.Pro569Thr	p.P569T	ENST00000230122	NM_014797.2	569	Cct/Act	0	1	1	UPI000013C924	0	NA	ENST00000230122		ENSG00000112365	21143		79	0.345		HGNC	p.P569T		ZBTB24		SNV			1				ENST00000230122	protein_coding	getma.org/?cm=var&var=hg19,6,109787443,G,T&fts=all		hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF3		P/T		T	neutral	1873/5519		getma.org/?cm=msa&ty=f&p=ZBT24_HUMAN&rb=563&re=661&var=P569T	tolerated(0.3)				YES	ZBTB24,missense_variant,p.Pro569Thr,ENST00000230122,NM_014797.2,NM_001164313.1;MICAL1,upstream_gene_variant,,ENST00000368952,NM_001286613.1;							MODERATE	1705/2094	P569T	ZBT24_HUMAN			Transcript		benign(0.13)	.	ENSP00000230122		CCDS34509.1			1	
ZNF425	0	LGGM	GRCh37	7	148800785	148800785	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104773	H104773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	37	6	.	.	ENST00000378061.2:c.2178G>A	p.Glu726=	p.E726=	ENST00000378061	NM_001001661.2	726	gaG/gaA	0	1	1	UPI00001B64B9	0		ENST00000378061		ENSG00000204947	20690		43			HGNC	p.E726E		ZNF425		SNV							ENST00000378061	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF120,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		E		T		2311/3220							YES	ZNF425,synonymous_variant,p.=,ENST00000378061,NM_001001661.2;ZNF425,downstream_gene_variant,,ENST00000483014,;ZNF425,downstream_gene_variant,,ENST00000495685,;							LOW	2178/2259		ZN425_HUMAN			Transcript			.	ENSP00000367300		CCDS34773.1			1	
FAM118A	0	LGGM	GRCh37	22	45731265	45731265	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H104773	H104773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	28	7	.	.	ENST00000216214.3:c.970+2T>C		p.X324_splice	ENST00000216214	NM_001104595.1			0	1	1	UPI000022B897	0		ENST00000216214		ENSG00000100376	1313		35			HGNC	-		FAM118A		SNV							ENST00000216214	protein_coding							C		-/3458				B4DY02_HUMAN,B0QY28_HUMAN			YES	FAM118A,splice_donor_variant,,ENST00000216214,NM_001104595.1;FAM118A,splice_donor_variant,,ENST00000441876,NM_017911.2;FAM118A,splice_donor_variant,,ENST00000405548,;FAM118A,splice_donor_variant,,ENST00000483102,;FAM118A,downstream_gene_variant,,ENST00000459849,;FAM118A,downstream_gene_variant,,ENST00000476754,;FAM118A,upstream_gene_variant,,ENST00000479180,;FAM118A,downstream_gene_variant,,ENST00000476478,;FAM118A,splice_donor_variant,,ENST00000462361,;FAM118A,splice_donor_variant,,ENST00000487732,;							HIGH	970/1074		F118A_HUMAN			Transcript			.	ENSP00000216214		CCDS14065.1			1	
RPL7L1	0	LGGM	GRCh37	6	42851331	42851331	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104773	H104773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	34	7	.	.	ENST00000493763.1:c.263C>T	p.Ala88Val	p.A88V	ENST00000493763	NM_198486.2	88	gCc/gTc	0	1		UPI00001D81E1	0	getma.org/pdb.php?prot=RL7L_HUMAN&from=87&to=138&var=A88V	ENST00000304734		ENSG00000146223	21370		41	1.8		HGNC	p.A88V		RPL7L1		SNV							ENST00000493763	protein_coding	getma.org/?cm=var&var=hg19,6,42851331,C,T&fts=all		Superfamily_domains:SSF55129,Gene3D:3.30.1390.20,TIGRFAM_domain:TIGR01310,Pfam_domain:PF00327,hmmpanther:PTHR11524:SF13,hmmpanther:PTHR11524		A/V		T	low	519/3769		getma.org/?cm=msa&ty=f&p=RL7L_HUMAN&rb=87&re=138&var=A88V	tolerated(0.06)	B7Z4G0_HUMAN,A8K5J5_HUMAN				RPL7L1,missense_variant,p.Ala88Val,ENST00000493763,NM_198486.2;RPL7L1,missense_variant,p.Ala88Val,ENST00000304734,;RPL7L1,missense_variant,p.Ala88Val,ENST00000424341,;RPL7L1,missense_variant,p.Ala88Val,ENST00000602561,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000397415,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000483998,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000462348,;RPL7L1,non_coding_transcript_exon_variant,,ENST00000487619,;RPL7L1,downstream_gene_variant,,ENST00000492836,;RPL7L1,downstream_gene_variant,,ENST00000497417,;RPL7L1,upstream_gene_variant,,ENST00000459829,;							MODERATE	263/741	A88V	RL7L_HUMAN			Transcript		possibly_damaging(0.492)	.	ENSP00000346063		CCDS4873.1			1	
PPP2R3A	0	LGGM	GRCh37	3	135768159	135768159	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	66	7	.	.	ENST00000264977.3:c.2425A>G	p.Asn809Asp	p.N809D	ENST00000264977	NM_001190447.1	809	Aac/Gac	0	1	1	UPI0000124EAC	0	NA	ENST00000264977		ENSG00000073711	9307		73	-0.32		HGNC	p.N73D		PPP2R3A		SNV							ENST00000490467	protein_coding	getma.org/?cm=var&var=hg19,3,135768159,A,G&fts=all		hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3,Superfamily_domains:SSF47473		N/D		G	neutral	3042/6795		getma.org/?cm=msa&ty=f&p=P2R3A_HUMAN&rb=756&re=1001&var=N809D	tolerated(0.24)				YES	PPP2R3A,missense_variant,p.Asn809Asp,ENST00000264977,NM_001190447.1,NM_002718.4;PPP2R3A,missense_variant,p.Asn188Asp,ENST00000334546,NM_181897.2;PPP2R3A,missense_variant,p.Asn73Asp,ENST00000490467,;PPP2R3A,missense_variant,p.Asn73Asp,ENST00000492624,;PPP2R3A,missense_variant,p.Asn103Asp,ENST00000447251,;							MODERATE	2425/3453	N809D	P2R3A_HUMAN			Transcript		benign(0.051)	.	ENSP00000264977		CCDS3087.1			1	
ETV6	0	LGGM	GRCh37	12	12022381	12022381	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	51	8	.	.	ENST00000396373.4:c.487A>T	p.Arg163Trp	p.R163W	ENST00000396373	NM_001987.4	163	Agg/Tgg	0	1	1	UPI000000DA45	0	NA	ENST00000396373		ENSG00000139083	3495		59	1.995		HGNC	p.R163W		ETV6		SNV			1				ENST00000396373	protein_coding	getma.org/?cm=var&var=hg19,12,12022381,A,T&fts=all		hmmpanther:PTHR11849:SF19,hmmpanther:PTHR11849		R/W		T	medium	761/5989		getma.org/?cm=msa&ty=f&p=ETV6_HUMAN&rb=125&re=324&var=R163W	deleterious(0.03)	Q9UME7_HUMAN			YES	ETV6,missense_variant,p.Arg163Trp,ENST00000396373,NM_001987.4;							MODERATE	487/1359	R163W	ETV6_HUMAN			Transcript		possibly_damaging(0.825)	.	ENSP00000379658		CCDS8643.1			1	
TPO	0	LGGM	GRCh37	2	1497775	1497775	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104773	H104773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	34	9	.	.	ENST00000345913.4:c.1970T>C	p.Ile657Thr	p.I657T	ENST00000345913	NM_000547.5	657	aTt/aCt	0	1		UPI000013D480	0	getma.org/pdb.php?prot=PERT_HUMAN&from=151&to=709&var=I657T	ENST00000329066		ENSG00000115705	12015	0.000173	43	3.03		HGNC	p.I657T	rs772340870	TPO	6.06E-05	SNV			1				ENST00000337415	protein_coding	getma.org/?cm=var&var=hg19,2,1497775,T,C&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11475,hmmpanther:PTHR11475:SF60,Superfamily_domains:SSF48113		I/T		C	medium	2053/3138		getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=151&re=709&var=I657T	deleterious(0)	Q53QT2_HUMAN,C9J511_HUMAN				TPO,missense_variant,p.Ile586Thr,ENST00000422464,;TPO,missense_variant,p.Ile657Thr,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Ile657Thr,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Ile657Thr,ENST00000337415,;TPO,missense_variant,p.Ile657Thr,ENST00000346956,NM_175721.3;TPO,missense_variant,p.Ile600Thr,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Ile484Thr,ENST00000349624,;TPO,missense_variant,p.Ile484Thr,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Ile132Thr,ENST00000446278,;TPO,missense_variant,p.Ile131Thr,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,non_coding_transcript_exon_variant,,ENST00000462973,;							MODERATE	1970/2802	I657T	PERT_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000329869	2.47E-05	CCDS1643.1			1	
CCDC158	0	LGGM	GRCh37	4	77247021	77247021	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104773	H104773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	58	13	.	.	ENST00000388914.3:c.3146A>G	p.Asp1049Gly	p.D1049G	ENST00000388914	NM_001042784.1	1049	gAt/gGt	0	1	1	UPI00004DF23B	0	NA	ENST00000388914		ENSG00000163749	26374		71	0.345		HGNC	p.D1049G		CCDC158		SNV							ENST00000388914	protein_coding	getma.org/?cm=var&var=hg19,4,77247021,T,C&fts=all		hmmpanther:PTHR13140:SF361,hmmpanther:PTHR13140		D/G		C	neutral	3299/3663		getma.org/?cm=msa&ty=f&p=CD158_HUMAN&rb=251&re=1111&var=D1049G	tolerated(0.07)				YES	CCDC158,missense_variant,p.Asp1049Gly,ENST00000388914,NM_001042784.1;CCDC158,non_coding_transcript_exon_variant,,ENST00000504667,;							MODERATE	3146/3342	D1049G	CD158_HUMAN			Transcript		benign(0.033)	.	ENSP00000373566		CCDS43242.1			1	
HOXD12	0	LGGM	GRCh37	2	176965342	176965342	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104773	H104773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	56	16	.	.	ENST00000406506.2:c.667G>T	p.Val223Phe	p.V223F	ENST00000406506		223	Gtc/Ttc	0	1	1	UPI0000EE2EA3	0	getma.org/pdb.php?prot=HXD12_HUMAN&from=203&to=259&var=V223F	ENST00000406506		ENSG00000170178	5135		72	-0.26		HGNC	p.R232L		HOXD12		SNV							ENST00000404162	protein_coding	getma.org/?cm=var&var=hg19,2,176965342,G,T&fts=all		Superfamily_domains:SSF46689,SMART_domains:SM00389,Gene3D:1.10.10.60,Pfam_domain:PF00046,hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF40,PROSITE_profiles:PS50071		V/F		T	neutral	739/1805		getma.org/?cm=msa&ty=f&p=HXD12_HUMAN&rb=203&re=259&var=V223F	tolerated(0.11)				YES	HOXD12,missense_variant,p.Val223Phe,ENST00000406506,;HOXD12,missense_variant,p.Arg232Leu,ENST00000404162,NM_021193.3;HOXD13,downstream_gene_variant,,ENST00000392539,NM_000523.3;HOXD11,upstream_gene_variant,,ENST00000498438,;							MODERATE	667/813	V223F	HXD12_HUMAN			Transcript		benign(0.332)	.	ENSP00000385586		CCDS46456.1			1	
PCNXL4	0	LGGM	GRCh37	14	60591451	60591451	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	205	17	.	.	ENST00000317623.4:c.1860A>C	p.Pro620=	p.P620=	ENST00000317623	NM_022495.5	620	ccA/ccC	0	1		UPI000161137B	0		ENST00000406854		ENSG00000126773	20349		222			HGNC	p.P854P		PCNXL4		SNV							ENST00000406854	protein_coding			hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF3		P		C		3116/4666				H9KV87_HUMAN,B6ZDM2_HUMAN				PCNXL4,synonymous_variant,p.=,ENST00000406854,;PCNXL4,synonymous_variant,p.=,ENST00000404681,;PCNXL4,synonymous_variant,p.=,ENST00000317623,NM_022495.5;PCNXL4,synonymous_variant,p.=,ENST00000406949,;PCNXL4,synonymous_variant,p.=,ENST00000535349,;PCNXL4,downstream_gene_variant,,ENST00000554534,;PCNXL4,synonymous_variant,p.=,ENST00000555740,;PCNXL4,non_coding_transcript_exon_variant,,ENST00000483571,;PCNXL4,intron_variant,,ENST00000555929,;PCNXL4,intron_variant,,ENST00000556360,;							LOW	2562/3519		PCX4_HUMAN			Transcript			.	ENSP00000384801					1	
INO80	0	LGGM	GRCh37	15	41379839	41379839	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104773	H104773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	70	18	.	.	ENST00000361937.3:c.579A>G	p.Thr193=	p.T193=	ENST00000361937		193	acA/acG	0	1	1	UPI00001B6AFC	0		ENST00000361937		ENSG00000128908	26956		88			HGNC	p.T193T	rs767738362	INO80	6.06E-05	SNV							ENST00000361937	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF213		T		C		1004/6439				Q9NUK2_HUMAN			YES	INO80,synonymous_variant,p.=,ENST00000361937,;INO80,synonymous_variant,p.=,ENST00000401393,NM_017553.1;INO80,synonymous_variant,p.=,ENST00000558357,;							LOW	579/4671		INO80_HUMAN			Transcript			.	ENSP00000355205	8.24E-06	CCDS10071.1			1	
NANP	0	LGGM	GRCh37	20	25596642	25596642	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	77	19	.	.	ENST00000304788.3:c.666T>A	p.Val222=	p.V222=	ENST00000304788	NM_152667.2	222	gtT/gtA	0	1	1	UPI0000070FB9	0		ENST00000304788		ENSG00000170191	16140		96			HGNC	p.V222V		NANP		SNV							ENST00000304788	protein_coding			hmmpanther:PTHR12725:SF4,hmmpanther:PTHR12725,TIGRFAM_domain:TIGR02253,Gene3D:3.40.50.1000,Superfamily_domains:SSF56784		V		T		893/3964							YES	NANP,synonymous_variant,p.=,ENST00000304788,NM_152667.2;RNU6ATAC17P,downstream_gene_variant,,ENST00000516074,;							LOW	666/747		NANP_HUMAN			Transcript			.	ENSP00000302441		CCDS13173.1			1	
CNST	0	LGGM	GRCh37	1	246811039	246811039	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H104773	H104773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104773N.bam, H104773T.bam	Illumina HiSeq	61	59	.	.	ENST00000366513.4:c.1536A>T	p.Gly512=	p.G512=	ENST00000366513	NM_152609.2	512	ggA/ggT	0	1	1	UPI000013E1DF	0		ENST00000366513		ENSG00000162852	26486		120			HGNC	p.G512G		CNST		SNV							ENST00000366513	protein_coding					G		T		1805/5126							YES	CNST,synonymous_variant,p.=,ENST00000366513,NM_152609.2;CNST,synonymous_variant,p.=,ENST00000366512,NM_001139459.1;CNST,non_coding_transcript_exon_variant,,ENST00000483271,;							LOW	1536/2178		CNST_HUMAN			Transcript			.	ENSP00000355470		CCDS1628.1			1	
NPTX2	0	LGGM	GRCh37	7	98256586	98256586	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	4	2	.	.	ENST00000265634.3:c.998G>T	p.Gly333Val	p.G333V	ENST00000265634	NM_002523.2	333	gGc/gTc	0	1	1	UPI000013040F	0	getma.org/pdb.php?prot=NPTX2_HUMAN&from=224&to=420&var=G333V	ENST00000265634		ENSG00000106236	7953		6	2.445		HGNC	p.G333V		NPTX2		SNV							ENST00000265634	protein_coding	getma.org/?cm=var&var=hg19,7,98256586,G,T&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00354,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF1,SMART_domains:SM00159,Superfamily_domains:SSF49899		G/V		T	medium	1163/2700		getma.org/?cm=msa&ty=f&p=NPTX2_HUMAN&rb=224&re=420&var=G333V	deleterious(0)				YES	NPTX2,missense_variant,p.Gly333Val,ENST00000265634,NM_002523.2;NPTX2,downstream_gene_variant,,ENST00000466102,;							MODERATE	998/1296	G333V	NPTX2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000265634		CCDS5657.1			1	
PMFBP1	0	LGGM	GRCh37	16	72173276	72173276	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	6	2	.	.	ENST00000237353.10:c.830T>C	p.Leu277Ser	p.L277S	ENST00000237353	NM_031293.2	277	tTg/tCg	0	1	1	UPI0000141554	0	NA	ENST00000237353		ENSG00000118557	17728		8	0.695		HGNC	p.L277S		PMFBP1		SNV							ENST00000237353	protein_coding	getma.org/?cm=var&var=hg19,16,72173276,A,G&fts=all		hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881		L/S		G	neutral	1092/3527		getma.org/?cm=msa&ty=f&p=PMFBP_HUMAN&rb=1&re=329&var=L277S	deleterious(0)	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN			YES	PMFBP1,missense_variant,p.Leu277Ser,ENST00000537465,;PMFBP1,missense_variant,p.Leu277Ser,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Leu132Ser,ENST00000355636,NM_001160213.1;PMFBP1,missense_variant,p.Leu80Ser,ENST00000537392,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;							MODERATE	830/3024	L277S	PMFBP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000237353		CCDS32483.1			1	
WNK2	0	LGGM	GRCh37	9	96051265	96051265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	13	2	.	.	ENST00000297954.4:c.4340C>A	p.Ala1447Glu	p.A1447E	ENST00000297954	NM_001282394.1	1447	gCg/gAg	0	1	1	UPI0000236D76	0	NA	ENST00000297954		ENSG00000165238	14542		15	1.78		HGNC	p.A1447E		WNK2		SNV							ENST00000297954	protein_coding	getma.org/?cm=var&var=hg19,9,96051265,C,A&fts=all		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10		A/E		A	low	4340/7138		getma.org/?cm=msa&ty=f&p=A6PVR4_HUMAN&rb=941&re=1339&var=A1013E					YES	WNK2,missense_variant,p.Ala1406Glu,ENST00000432730,;WNK2,missense_variant,p.Ala1447Glu,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Ala1059Glu,ENST00000349097,;WNK2,missense_variant,p.Ala1410Glu,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Ala1014Glu,ENST00000411624,;WNK2,missense_variant,p.Ala1022Glu,ENST00000427277,;WNK2,missense_variant,p.Ala207Glu,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,;							MODERATE	4340/6894	A1013E	WNK2_HUMAN			Transcript		unknown(0)	.	ENSP00000297954					1	
HHIPL2	0	LGGM	GRCh37	1	222721325	222721325	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	19	3	.	.	ENST00000343410.6:c.62C>G	p.Ser21Cys	p.S21C	ENST00000343410	NM_024746.3	21	tCt/tGt	0	1	1	UPI000004C60D	0	NA	ENST00000343410		ENSG00000143512	25842		22	1.955		HGNC	p.S21C		HHIPL2		SNV							ENST00000343410	protein_coding	getma.org/?cm=var&var=hg19,1,222721325,G,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-TM		S/C		C	medium	121/2575		getma.org/?cm=msa&ty=f&p=HIPL2_HUMAN&rb=1&re=43&var=S21C	tolerated(0.17)				YES	HHIPL2,missense_variant,p.Ser21Cys,ENST00000343410,NM_024746.3;							MODERATE	62/2175	S21C	HIPL2_HUMAN			Transcript		benign(0.439)	.	ENSP00000342118		CCDS1530.2			1	
B4GALT6	0	LGGM	GRCh37	18	29238049	29238049	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	18	3	.	.	ENST00000306851.5:c.236A>T	p.Tyr79Phe	p.Y79F	ENST00000306851	NM_004775.3	79	tAt/tTt	0	1	1	UPI0000126721	0	NA	ENST00000306851		ENSG00000118276	929		21	1.31		HGNC	p.Y40F		B4GALT6		SNV							ENST00000237019	protein_coding	getma.org/?cm=var&var=hg19,18,29238049,T,A&fts=all		hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF29		Y/F		A	low	533/3891		getma.org/?cm=msa&ty=f&p=B4GT6_HUMAN&rb=1&re=107&var=Y79F	tolerated(0.08)	Q6NT00_HUMAN,J3QQY9_HUMAN			YES	B4GALT6,missense_variant,p.Tyr79Phe,ENST00000306851,NM_004775.3;B4GALT6,missense_variant,p.Tyr40Phe,ENST00000237019,;B4GALT6,missense_variant,p.Tyr79Phe,ENST00000383131,;B4GALT6,missense_variant,p.Tyr35Phe,ENST00000579372,;B4GALT6,non_coding_transcript_exon_variant,,ENST00000578114,;							MODERATE	236/1149	Y79F	B4GT6_HUMAN			Transcript		benign(0.019)	.	ENSP00000306459		CCDS11900.1			1	
SRRM1	0	LGGM	GRCh37	1	24993374	24993374	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	25	3	.	.	ENST00000323848.9:c.1697C>A	p.Pro566His	p.P566H	ENST00000323848	NM_005839.3	566	cCt/cAt	0	1	1	UPI000013EBEB	0	NA	ENST00000323848		ENSG00000133226	16638		28	1.795		HGNC	p.P566H	rs753674194,COSM303302	SRRM1		SNV						0,1	ENST00000323848	protein_coding	getma.org/?cm=var&var=hg19,1,24993374,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23148		P/H		A	low	2012/4011	4.54E-05	getma.org/?cm=msa&ty=f&p=SRRM1_HUMAN&rb=519&re=718&var=P566H		M0QXG5_HUMAN			YES	SRRM1,missense_variant,p.Pro566His,ENST00000323848,NM_005839.3;SRRM1,missense_variant,p.Pro578His,ENST00000447431,;SRRM1,missense_variant,p.Pro575His,ENST00000374389,;SRRM1,missense_variant,p.Pro539His,ENST00000596378,;SRRM1,3_prime_UTR_variant,,ENST00000537199,;snoU13,downstream_gene_variant,,ENST00000459464,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,downstream_gene_variant,,ENST00000496882,;SRRM1,downstream_gene_variant,,ENST00000485541,;SRRM1,downstream_gene_variant,,ENST00000461768,;SRRM1,non_coding_transcript_exon_variant,,ENST00000489130,;SRRM1,upstream_gene_variant,,ENST00000474843,;					0,1		MODERATE	1697/2715	P566H	SRRM1_HUMAN			Transcript		unknown(0)	.	ENSP00000326261	4.94E-05	CCDS255.1			1	
NUP133	0	LGGM	GRCh37	1	229613500	229613500	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	28	3	.	.	ENST00000261396.3:c.1600T>G	p.Leu534Val	p.L534V	ENST00000261396	NM_018230.2	534	Tta/Gta	0	1	1	UPI000013D17A	0	getma.org/pdb.php?prot=NU133_HUMAN&from=473&to=591&var=L534V	ENST00000261396		ENSG00000069248	18016		31	1.085		HGNC	p.L518V		NUP133		SNV							ENST00000537506	protein_coding	getma.org/?cm=var&var=hg19,1,229613500,A,C&fts=all		hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405		L/V		C	low	1692/4169		getma.org/?cm=msa&ty=f&p=NU133_HUMAN&rb=473&re=591&var=L534V	tolerated(0.26)				YES	NUP133,missense_variant,p.Leu534Val,ENST00000261396,NM_018230.2;NUP133,missense_variant,p.Leu518Val,ENST00000537506,;							MODERATE	1600/3471	L534V	NU133_HUMAN			Transcript		benign(0.023)	.	ENSP00000261396		CCDS1579.1			1	
SRRM1	0	LGGM	GRCh37	1	24993386	24993386	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	29	3	.	.	ENST00000323848.9:c.1709G>T	p.Arg570Leu	p.R570L	ENST00000323848	NM_005839.3	570	cGc/cTc	0	1	1	UPI000013EBEB	0	NA	ENST00000323848		ENSG00000133226	16638		32	1.7		HGNC	p.R570L	COSM303303	SRRM1		SNV						1	ENST00000323848	protein_coding	getma.org/?cm=var&var=hg19,1,24993386,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23148		R/L		T	low	2024/4011		getma.org/?cm=msa&ty=f&p=SRRM1_HUMAN&rb=519&re=718&var=R570L		M0QXG5_HUMAN			YES	SRRM1,missense_variant,p.Arg570Leu,ENST00000323848,NM_005839.3;SRRM1,missense_variant,p.Arg582Leu,ENST00000447431,;SRRM1,missense_variant,p.Arg579Leu,ENST00000374389,;SRRM1,missense_variant,p.Arg543Leu,ENST00000596378,;SRRM1,3_prime_UTR_variant,,ENST00000537199,;snoU13,downstream_gene_variant,,ENST00000459464,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,downstream_gene_variant,,ENST00000496882,;SRRM1,downstream_gene_variant,,ENST00000485541,;SRRM1,downstream_gene_variant,,ENST00000461768,;SRRM1,non_coding_transcript_exon_variant,,ENST00000489130,;SRRM1,upstream_gene_variant,,ENST00000474843,;					1		MODERATE	1709/2715	R570L	SRRM1_HUMAN			Transcript		unknown(0)	.	ENSP00000326261		CCDS255.1			1	
NKTR	0	LGGM	GRCh37	3	42687388	42687388	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	19	3	.	.	ENST00000232978.8:c.4310G>C	p.Arg1437Thr	p.R1437T	ENST00000232978	NM_005385.3	1437	aGa/aCa	0	1	1	UPI00001301FD	0	NA	ENST00000232978		ENSG00000114857	7833		22	2.085		HGNC	p.R1437T		NKTR		SNV							ENST00000232978	protein_coding	getma.org/?cm=var&var=hg19,3,42687388,G,C&fts=all		Low_complexity_(Seg):seg		R/T		C	medium	4498/7337		getma.org/?cm=msa&ty=f&p=NKTR_HUMAN&rb=715&re=1460&var=R1437T	deleterious_low_confidence(0)				YES	NKTR,missense_variant,p.Arg1437Thr,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,,ENST00000490189,;							MODERATE	4310/4389	R1437T	NKTR_HUMAN			Transcript		unknown(0)	.	ENSP00000232978		CCDS2702.1			1	
IFT46	0	LGGM	GRCh37	11	118422505	118422505	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	28	3	.	.	ENST00000264020.2:c.821G>C	p.Gly274Ala	p.G274A	ENST00000264020	NM_020153.3	274	gGc/gCc	0	1		UPI0000037C16	0	NA	ENST00000264021		ENSG00000118096	26146		31	1.385		HGNC	p.G274A		IFT46		SNV							ENST00000264020	protein_coding	getma.org/?cm=var&var=hg19,11,118422505,C,G&fts=all		hmmpanther:PTHR13376,hmmpanther:PTHR13376:SF0,Pfam_domain:PF12317		G/A		G	low	1087/1722		getma.org/?cm=msa&ty=f&p=IFT46_HUMAN&rb=62&re=275&var=G223A	tolerated(0.09)	E9PSB9_HUMAN,E9PRT0_HUMAN,E9PKW0_HUMAN,E9PIM8_HUMAN				IFT46,missense_variant,p.Gly274Ala,ENST00000264020,NM_020153.3;IFT46,missense_variant,p.Gly223Ala,ENST00000264021,NM_001168618.1;IFT46,missense_variant,p.Gly274Ala,ENST00000530872,;TMEM25,downstream_gene_variant,,ENST00000442938,NM_001144038.1;IFT46,downstream_gene_variant,,ENST00000531939,;IFT46,downstream_gene_variant,,ENST00000528378,;IFT46,downstream_gene_variant,,ENST00000534156,;IFT46,downstream_gene_variant,,ENST00000534114,;IFT46,non_coding_transcript_exon_variant,,ENST00000531201,;IFT46,non_coding_transcript_exon_variant,,ENST00000525060,;							MODERATE	668/915	G223A	IFT46_HUMAN			Transcript		possibly_damaging(0.577)	.	ENSP00000264021		CCDS53718.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H104792	H104792N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	3	8	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	11			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
FRY	0	LGGM	GRCh37	13	32721456	32721456	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	35	4	.	.	ENST00000380250.3:c.1217C>G	p.Ser406Cys	p.S406C	ENST00000380250	NM_023037.2	406	tCt/tGt	0	1	1	UPI000046FD40	0	NA	ENST00000380250		ENSG00000073910	20367		39	2.405		HGNC	p.S406C		FRY		SNV							ENST00000380250	protein_coding	getma.org/?cm=var&var=hg19,13,32721456,C,G&fts=all		Pfam_domain:PF14222,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29		S/C		G	medium	1713/10735		getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=164&re=697&var=S406C	deleterious(0)	Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,missense_variant,p.Ser406Cys,ENST00000380250,NM_023037.2;							MODERATE	1217/9042	S406C	FRY_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000369600		CCDS41875.1			1	
RPAP1	0	LGGM	GRCh37	15	41814415	41814415	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	18	4	.	.	ENST00000304330.4:c.2776A>C	p.Asn926His	p.N926H	ENST00000304330	NM_015540.2	926	Aat/Cat	0	1	1	UPI000013D465	0	NA	ENST00000304330		ENSG00000103932	24567		22	1.39		HGNC	p.N926H		RPAP1		SNV							ENST00000561603	protein_coding	getma.org/?cm=var&var=hg19,15,41814415,T,G&fts=all		hmmpanther:PTHR21483:SF18,hmmpanther:PTHR21483		N/H		G	low	2893/4665		getma.org/?cm=msa&ty=f&p=RPAP1_HUMAN&rb=825&re=1024&var=N926H	deleterious(0.04)	H3BPY8_HUMAN,H3BPM3_HUMAN			YES	RPAP1,missense_variant,p.Asn926His,ENST00000304330,NM_015540.2;RPAP1,missense_variant,p.Asn926His,ENST00000561603,;RPAP1,downstream_gene_variant,,ENST00000565035,;RPAP1,missense_variant,p.Asn926His,ENST00000562303,;RPAP1,upstream_gene_variant,,ENST00000565167,;RPAP1,downstream_gene_variant,,ENST00000564934,;RPAP1,downstream_gene_variant,,ENST00000561631,;							MODERATE	2776/4182	N926H	RPAP1_HUMAN			Transcript		benign(0.176)	.	ENSP00000306123		CCDS10079.1			1	
GLOD4	0	LGGM	GRCh37	17	679033	679033	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	42	4	.	.	ENST00000301329.6:c.388C>T	p.Arg130Cys	p.R130C	ENST00000301329	NM_016080.3	130	Cgc/Tgc	0	1		UPI0000070C47	0	NA	ENST00000301328		ENSG00000167699	14111	8.64E-05	46	1.58		HGNC	p.R145C	rs529543488,COSM3370878	GLOD4	6.06E-05	SNV						0,1	ENST00000301328	protein_coding	getma.org/?cm=var&var=hg19,17,679033,G,A&fts=all	A:0	hmmpanther:PTHR10374,hmmpanther:PTHR10374:SF8,Superfamily_domains:SSF54593		R/C		A	low	457/1809		getma.org/?cm=msa&ty=f&p=B4DX01_HUMAN&rb=1&re=118&var=R106C	tolerated(0.09)	B3KV49_HUMAN	A:0.0014	A:0		GLOD4,missense_variant,p.Arg130Cys,ENST00000301329,NM_016080.3;GLOD4,missense_variant,p.Arg145Cys,ENST00000301328,;GLOD4,missense_variant,p.Arg121Cys,ENST00000536578,;GLOD4,missense_variant,p.Arg130Cys,ENST00000576419,;GLOD4,upstream_gene_variant,,ENST00000573137,;GLOD4,3_prime_UTR_variant,,ENST00000574554,;GLOD4,3_prime_UTR_variant,,ENST00000575851,;GLOD4,3_prime_UTR_variant,,ENST00000575790,;GLOD4,3_prime_UTR_variant,,ENST00000574581,;GLOD4,3_prime_UTR_variant,,ENST00000572220,;GLOD4,non_coding_transcript_exon_variant,,ENST00000576239,;GLOD4,non_coding_transcript_exon_variant,,ENST00000571073,;GLOD4,upstream_gene_variant,,ENST00000575528,;GLOD4,downstream_gene_variant,,ENST00000576670,;GLOD4,downstream_gene_variant,,ENST00000574354,;GLOD4,downstream_gene_variant,,ENST00000576750,;		A:0.0002			0,1		MODERATE	433/942	R106C	GLOD4_HUMAN		A:0	Transcript		benign(0.001)	.	ENSP00000301328	1.65E-05			A:0	1	
PPWD1	0	LGGM	GRCh37	5	64881898	64881898	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	31	4	.	.	ENST00000261308.5:c.1687G>C	p.Glu563Gln	p.E563Q	ENST00000261308	NM_001278927.1	563	Gaa/Caa	0	1	1	UPI000004CAF3	0	getma.org/pdb.php?prot=PPWD1_HUMAN&from=493&to=645&var=E563Q	ENST00000261308		ENSG00000113593	28954		35	2.405		HGNC	p.E407Q		PPWD1		SNV							ENST00000538977	protein_coding	getma.org/?cm=var&var=hg19,5,64881898,G,C&fts=all		Gene3D:2.40.100.10,Pfam_domain:PF00160,PROSITE_profiles:PS50072,hmmpanther:PTHR11071,hmmpanther:PTHR11071:SF213,Superfamily_domains:SSF50891		E/Q		C	medium	1759/2166		getma.org/?cm=msa&ty=f&p=PPWD1_HUMAN&rb=493&re=645&var=E563Q	deleterious(0)	D6R9Q1_HUMAN,B4DWR9_HUMAN			YES	PPWD1,missense_variant,p.Glu563Gln,ENST00000261308,NM_001278927.1,NM_015342.3;PPWD1,missense_variant,p.Glu533Gln,ENST00000535264,NM_001278926.1;PPWD1,missense_variant,p.Glu407Gln,ENST00000538977,NM_001278929.1;TRIM23,downstream_gene_variant,,ENST00000231524,NM_001656.3;TRIM23,downstream_gene_variant,,ENST00000381018,NM_033227.2;TRIM23,downstream_gene_variant,,ENST00000274327,NM_033228.2;PPWD1,3_prime_UTR_variant,,ENST00000510930,;PPWD1,3_prime_UTR_variant,,ENST00000511908,;PPWD1,non_coding_transcript_exon_variant,,ENST00000513773,;PPWD1,downstream_gene_variant,,ENST00000514172,;PPWD1,downstream_gene_variant,,ENST00000511334,;PPWD1,downstream_gene_variant,,ENST00000515151,;							MODERATE	1687/1941	E563Q	PPWD1_HUMAN			Transcript		possibly_damaging(0.798)	.	ENSP00000261308		CCDS3985.1			1	
IRGC	0	LGGM	GRCh37	19	44223535	44223535	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	9	4	.	.	ENST00000244314.5:c.825C>T	p.Gly275=	p.G275=	ENST00000244314	NM_019612.3	275	ggC/ggT	0	1	1	UPI000011DFC0	0		ENST00000244314		ENSG00000124449	28835		13			HGNC	p.G275G	rs755683247,COSM3535313	IRGC		SNV						0,1	ENST00000244314	protein_coding			Pfam_domain:PF05049,hmmpanther:PTHR32341,hmmpanther:PTHR32341:SF7		G		T		1024/1662	1.54E-05			J7NNX4_HUMAN			YES	IRGC,synonymous_variant,p.=,ENST00000244314,NM_019612.3;IRGC,downstream_gene_variant,,ENST00000596627,;					0,1		LOW	825/1392		IIGP5_HUMAN			Transcript			.	ENSP00000244314	8.24E-06	CCDS12629.1			1	
EVC2	0	LGGM	GRCh37	4	5624511	5624511	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	17	4	.	.	ENST00000344408.5:c.2254C>T	p.Arg752Trp	p.R752W	ENST00000344408	NM_147127.4	752	Cgg/Tgg	0	1	1	UPI00001910B5	0	NA	ENST00000344408		ENSG00000173040	19747		21	1.7		HGNC	p.R752W	rs532778814,COSM179255	EVC2		SNV			1	9.63E-05		0,1	ENST00000344408	protein_coding	getma.org/?cm=var&var=hg19,4,5624511,G,A&fts=all	A:0.0008	hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		R/W		A	low	2308/4390	1.50E-05	getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=662&re=861&var=R752W	deleterious(0.02)	Q4W5B1_HUMAN,Q4W5A4_HUMAN	A:0	A:0	YES	EVC2,missense_variant,p.Arg672Trp,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Arg752Trp,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Arg752Trp,ENST00000344938,;EVC2,missense_variant,p.Arg672Trp,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;		A:0.0002			0,1		MODERATE	2254/3927	R752W	LBN_HUMAN		A:0	Transcript		benign(0.15)	.	ENSP00000342144	1.65E-05	CCDS3382.2		A:0	1	
SAMD4B	0	LGGM	GRCh37	19	39860611	39860611	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	23	4	.	.	ENST00000314471.6:c.513C>G	p.Gly171=	p.G171=	ENST00000314471	NM_018028.2	171	ggC/ggG	0	1	1	UPI00001D8165	0		ENST00000314471		ENSG00000179134	25492		27			HGNC	p.G171G		SAMD4B		SNV							ENST00000598913	protein_coding			hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF9		G		G		1548/4519				M0QY61_HUMAN,M0QXV2_HUMAN			YES	SAMD4B,synonymous_variant,p.=,ENST00000314471,NM_018028.2;SAMD4B,synonymous_variant,p.=,ENST00000598913,;SAMD4B,synonymous_variant,p.=,ENST00000596368,;SAMD4B,synonymous_variant,p.=,ENST00000599712,;SAMD4B,downstream_gene_variant,,ENST00000602243,;SAMD4B,upstream_gene_variant,,ENST00000600018,;RN7SL566P,downstream_gene_variant,,ENST00000467650,;SAMD4B,non_coding_transcript_exon_variant,,ENST00000596319,;							LOW	513/2085		SMAG2_HUMAN			Transcript			.	ENSP00000317224		CCDS33020.1			1	
TARBP1	0	LGGM	GRCh37	1	234614797	234614797	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	10	4	.	.	ENST00000040877.1:c.53C>A	p.Ala18Asp	p.A18D	ENST00000040877	NM_005646.3	18	gCc/gAc	0	1	1	UPI000006DB0F	0	NA	ENST00000040877		ENSG00000059588	11568		14	0.55		HGNC	p.A18D		TARBP1		SNV							ENST00000040877	protein_coding	getma.org/?cm=var&var=hg19,1,234614797,G,T&fts=all		PROSITE_profiles:PS51624		A/D		T	neutral	53/5130		getma.org/?cm=msa&ty=f&p=TARB1_HUMAN&rb=1&re=247&var=A18D	deleterious(0.03)				YES	TARBP1,missense_variant,p.Ala18Asp,ENST00000040877,NM_005646.3;							MODERATE	53/4866	A18D	TARB1_HUMAN			Transcript		benign(0.027)	.	ENSP00000040877		CCDS1601.1			1	
RXRG	0	LGGM	GRCh37	1	165378886	165378886	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	8	4	.	.	ENST00000359842.5:c.955G>C	p.Val319Leu	p.V319L	ENST00000359842	NM_001256570.1	319	Gtt/Ctt	0	1	1	UPI000004989F	0	getma.org/pdb.php?prot=RXRG_HUMAN&from=248&to=443&var=V319L	ENST00000359842		ENSG00000143171	10479		12	0.915		HGNC	p.V319L		RXRG		SNV							ENST00000359842	protein_coding	getma.org/?cm=var&var=hg19,1,165378886,C,G&fts=all		Gene3D:1.10.565.10,Pfam_domain:PF00104,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF83,SMART_domains:SM00430,Superfamily_domains:SSF48508		V/L		G	low	1258/2036		getma.org/?cm=msa&ty=f&p=RXRG_HUMAN&rb=248&re=443&var=V319L	deleterious(0.04)	F1D8Q7_HUMAN			YES	RXRG,missense_variant,p.Val319Leu,ENST00000359842,NM_001256570.1,NM_006917.4;RXRG,downstream_gene_variant,,ENST00000470566,;							MODERATE	955/1392	V319L	RXRG_HUMAN			Transcript		benign(0.187)	.	ENSP00000352900		CCDS1248.1			1	
UROS	0	LGGM	GRCh37	10	127503700	127503700	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	22	5	.	.	ENST00000368797.4:c.148-1G>A		p.X50_splice	ENST00000368797	NM_000375.2			0	1		UPI000012C4A4	0		ENST00000368786		ENSG00000188690	12592		27			HGNC	-		UROS		SNV			1				ENST00000368797	protein_coding							T		-/1216								UROS,splice_acceptor_variant,,ENST00000368778,;UROS,splice_acceptor_variant,,ENST00000368797,NM_000375.2;UROS,splice_acceptor_variant,,ENST00000368786,;UROS,splice_acceptor_variant,,ENST00000420761,;UROS,splice_acceptor_variant,,ENST00000368774,;MIR4484,upstream_gene_variant,,ENST00000582855,;							HIGH	148/798		HEM4_HUMAN			Transcript			.	ENSP00000357775		CCDS7648.1			1	
ATG9A	0	LGGM	GRCh37	2	220088477	220088477	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	11	5	.	.	ENST00000409618.1:c.1429T>G	p.Leu477Val	p.L477V	ENST00000409618		477	Ttg/Gtg	0	1		UPI0000209615	0	NA	ENST00000361242		ENSG00000198925	22408		16	2.305		HGNC	p.L416V		ATG9A		SNV							ENST00000409422	protein_coding	getma.org/?cm=var&var=hg19,2,220088477,A,C&fts=all		hmmpanther:PTHR13038:SF13,hmmpanther:PTHR13038,Pfam_domain:PF04109		L/V		C	medium	1646/3130		getma.org/?cm=msa&ty=f&p=ATG9A_HUMAN&rb=172&re=533&var=L477V	deleterious(0.02)	C9JXG2_HUMAN,C9JX27_HUMAN,C9JS65_HUMAN,C9JKV7_HUMAN,C9JFV2_HUMAN,C9JDK4_HUMAN,C9JD65_HUMAN,C9IYZ9_HUMAN				ATG9A,missense_variant,p.Leu477Val,ENST00000409618,;ATG9A,missense_variant,p.Leu477Val,ENST00000396761,NM_024085.3;ATG9A,missense_variant,p.Leu477Val,ENST00000361242,NM_001077198.1;ATG9A,missense_variant,p.Leu416Val,ENST00000409422,;ATG9A,missense_variant,p.Leu36Val,ENST00000429920,;ABCB6,upstream_gene_variant,,ENST00000265316,NM_005689.2;ABCB6,upstream_gene_variant,,ENST00000439002,;ATG9A,downstream_gene_variant,,ENST00000436856,;ATG9A,downstream_gene_variant,,ENST00000432520,;ATG9A,downstream_gene_variant,,ENST00000428226,;ATG9A,downstream_gene_variant,,ENST00000457841,;ATG9A,downstream_gene_variant,,ENST00000443140,;ATG9A,downstream_gene_variant,,ENST00000439812,;ATG9A,downstream_gene_variant,,ENST00000431715,;ATG9A,downstream_gene_variant,,ENST00000434939,;AC068946.1,downstream_gene_variant,,ENST00000408417,;ATG9A,downstream_gene_variant,,ENST00000488833,;ATG9A,missense_variant,p.Phe457Cys,ENST00000409033,;ATG9A,upstream_gene_variant,,ENST00000446716,;ATG9A,upstream_gene_variant,,ENST00000475339,;ATG9A,downstream_gene_variant,,ENST00000466217,;ATG9A,downstream_gene_variant,,ENST00000486766,;ATG9A,downstream_gene_variant,,ENST00000456708,;ATG9A,downstream_gene_variant,,ENST00000412355,;ATG9A,downstream_gene_variant,,ENST00000455079,;							MODERATE	1429/2520	L477V	ATG9A_HUMAN			Transcript		possibly_damaging(0.721)	.	ENSP00000355173		CCDS42820.1			1	
ANAPC1	0	LGGM	GRCh37	2	112615958	112615958	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	25	5	.	.	ENST00000341068.3:c.1283C>G	p.Ser428Ter	p.S428*	ENST00000341068	NM_022662.3	428	tCa/tGa	0	1	1	UPI000006EC6E	0	NA	ENST00000341068		ENSG00000153107	19988		30	0		HGNC	p.S428X		ANAPC1		SNV							ENST00000341068	protein_coding	getma.org/?cm=var&var=hg19,2,112615958,G,C&fts=all		hmmpanther:PTHR12827		S/*		C	NA	2056/8259		NA					YES	ANAPC1,stop_gained,p.Ser428Ter,ENST00000341068,NM_022662.3;ANAPC1,upstream_gene_variant,,ENST00000427997,;ANAPC1,upstream_gene_variant,,ENST00000482177,;							HIGH	1283/5835	S428*	APC1_HUMAN			Transcript			.	ENSP00000339109		CCDS2093.1			1	
GIGYF1	0	LGGM	GRCh37	7	100283615	100283615	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	18	5	.	.	ENST00000275732.5:c.1036G>T	p.Glu346Ter	p.E346*	ENST00000275732	NM_022574.4	346	Gag/Tag	0	1	1	UPI00001BD8AD	0	NA	ENST00000275732		ENSG00000146830	9126		23	0		HGNC	p.E346X		GIGYF1		SNV							ENST00000275732	protein_coding	getma.org/?cm=var&var=hg19,7,100283615,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF37		E/*		A	NA	2246/6530		NA					YES	GIGYF1,stop_gained,p.Glu346Ter,ENST00000275732,NM_022574.4;GIGYF1,intron_variant,,ENST00000471340,;GIGYF1,non_coding_transcript_exon_variant,,ENST00000464111,;GIGYF1,upstream_gene_variant,,ENST00000472105,;							HIGH	1036/3108	E346*	PERQ1_HUMAN			Transcript			.	ENSP00000275732		CCDS34708.1			1	
LRRC73	0	LGGM	GRCh37	6	43475606	43475606	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	14	5	.	.	ENST00000372441.1:c.615C>A	p.Val205=	p.V205=	ENST00000372441	NM_001271882.1	205	gtC/gtA	0	1	1	UPI000015FBAC	0		ENST00000372441		ENSG00000204052	21375		19			HGNC	p.V205V		LRRC73		SNV							ENST00000372441	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR25480,hmmpanther:PTHR25480:SF182,SMART_domains:SM00368,Superfamily_domains:SSF52047		V		T		1516/2121				B3KX61_HUMAN			YES	LRRC73,synonymous_variant,p.=,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,,ENST00000416380,;YIPF3,downstream_gene_variant,,ENST00000514627,;YIPF3,downstream_gene_variant,,ENST00000455768,;YIPF3,downstream_gene_variant,,ENST00000503147,;YIPF3,downstream_gene_variant,,ENST00000372417,;YIPF3,downstream_gene_variant,,ENST00000512713,;							LOW	615/951		LRC73_HUMAN			Transcript			.	ENSP00000361518		CCDS34456.1			1	
GHR	0	LGGM	GRCh37	5	42719184	42719184	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	33	5	.	.	ENST00000230882.4:c.1575A>C	p.Gln525His	p.Q525H	ENST00000230882	NM_001242406.2	525	caA/caC	0	1	1	UPI000012B416	0	NA	ENST00000230882		ENSG00000112964	4263		38	2.72		HGNC	p.Q525H		GHR		SNV			1				ENST00000230882	protein_coding	getma.org/?cm=var&var=hg19,5,42719184,A,C&fts=all		Pfam_domain:PF12772,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF74		Q/H		C	medium	1765/4560		getma.org/?cm=msa&ty=f&p=GHR_HUMAN&rb=316&re=623&var=Q525H	deleterious(0.02)	Q9NRZ8_HUMAN,Q9HCW9_HUMAN,F5H7X2_HUMAN			YES	GHR,missense_variant,p.Gln525His,ENST00000230882,NM_001242406.2,NM_000163.4,NM_001242399.2,NM_001242401.3,NM_001242405.2,NM_001242404.2,NM_001242400.2,NM_001242403.2,NM_001242402.2;GHR,missense_variant,p.Gln503His,ENST00000357703,NM_001242460.1;GHR,missense_variant,p.Gln338His,ENST00000537449,;GHR,downstream_gene_variant,,ENST00000513625,;GHR,3_prime_UTR_variant,,ENST00000511135,;							MODERATE	1575/1917	Q525H	GHR_HUMAN			Transcript		benign(0.033)	.	ENSP00000230882		CCDS3940.1			1	
ITIH6	0	LGGM	GRCh37	X	54776471	54776471	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	13	5	.	.	ENST00000218436.6:c.3799G>T	p.Gly1267Cys	p.G1267C	ENST00000218436	NM_198510.2	1267	Ggc/Tgc	0	1	1	UPI00000540C8	0	NA	ENST00000218436		ENSG00000102313	28907		18	1.355		HGNC	p.G1267C		ITIH6		SNV							ENST00000218436	protein_coding	getma.org/?cm=var&var=hg19,X,54776471,C,A&fts=all		hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF10		G/C		A	low	3829/4968		getma.org/?cm=msa&ty=f&p=ITIH6_HUMAN&rb=1201&re=1313&var=G1267C	deleterious(0)				YES	ITIH6,missense_variant,p.Gly1267Cys,ENST00000218436,NM_198510.2;							MODERATE	3799/3942	G1267C	ITIH6_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000218436		CCDS14361.1			1	
TOPAZ1	0	LGGM	GRCh37	3	44284894	44284894	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	36	5	.	.	ENST00000309765.4:c.896A>G	p.Asp299Gly	p.D299G	ENST00000309765	NM_001145030.1	299	gAt/gGt	0	1	1	UPI000047FF75	0	NA	ENST00000309765		ENSG00000173769	24746		41	0.345		HGNC	p.D299G		TOPAZ1		SNV							ENST00000309765	protein_coding	getma.org/?cm=var&var=hg19,3,44284894,A,G&fts=all				D/G		G	neutral	1064/5334		getma.org/?cm=msa&ty=f&p=TOPZ1_HUMAN&rb=201&re=400&var=D299G	tolerated(0.44)				YES	TOPAZ1,missense_variant,p.Asp299Gly,ENST00000309765,NM_001145030.1;							MODERATE	896/5079	D299G	TOPZ1_HUMAN			Transcript		benign(0.027)	.	ENSP00000310303		CCDS46809.1			1	
PPARG	0	LGGM	GRCh37	3	12447395	12447395	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	61	5	.	.	ENST00000287820.6:c.634C>T	p.Arg212Trp	p.R212W	ENST00000287820	NM_015869.4	212	Cgg/Tgg	0	1	1	UPI0000055911	0	getma.org/pdb.php?prot=PPARG_HUMAN&from=206&to=293&var=R212W	ENST00000287820		ENSG00000132170	9236		66	2.945		HGNC	p.R184W		PPARG		SNV			1				ENST00000397015	protein_coding	getma.org/?cm=var&var=hg19,3,12447395,C,T&fts=all		Gene3D:1.10.565.10,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF14,Superfamily_domains:SSF57716		R/W		T	medium	755/1850		getma.org/?cm=msa&ty=f&p=PPARG_HUMAN&rb=206&re=293&var=R212W	deleterious(0)	Q9UEF6_HUMAN,Q6L9M1_HUMAN,E9PFJ1_HUMAN,E7EUD1_HUMAN,E7EU07_HUMAN,D2KUA6_HUMAN			YES	PPARG,missense_variant,p.Arg190Trp,ENST00000397026,;PPARG,missense_variant,p.Arg184Trp,ENST00000397010,;PPARG,missense_variant,p.Arg184Trp,ENST00000397012,NM_138711.3;PPARG,missense_variant,p.Arg184Trp,ENST00000309576,NM_138712.3;PPARG,missense_variant,p.Arg212Trp,ENST00000287820,NM_015869.4;PPARG,missense_variant,p.Arg184Trp,ENST00000397015,NM_005037.5;PPARG,missense_variant,p.Arg182Trp,ENST00000539812,;PPARG,missense_variant,p.Arg184Trp,ENST00000397000,;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,;							MODERATE	634/1518	R212W	PPARG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000287820		CCDS2609.1			1	
HGD	0	LGGM	GRCh37	3	120389353	120389353	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	44	5	.	.	ENST00000283871.5:c.203T>C	p.Val68Ala	p.V68A	ENST00000283871	NM_000187.3	68	gTt/gCt	0	1	1	UPI000020A025	0	getma.org/pdb.php?prot=HGD_HUMAN&from=5&to=434&var=V68A	ENST00000283871		ENSG00000113924	4892		49	0.685		HGNC	p.V68A		HGD		SNV			1				ENST00000283871	protein_coding	getma.org/?cm=var&var=hg19,3,120389353,A,G&fts=all		hmmpanther:PTHR11056,TIGRFAM_domain:TIGR01015,Pfam_domain:PF04209,Superfamily_domains:SSF51182		V/A		G	neutral	663/2005		getma.org/?cm=msa&ty=f&p=HGD_HUMAN&rb=5&re=434&var=V68A	tolerated(0.64)	B3KW64_HUMAN			YES	HGD,missense_variant,p.Val68Ala,ENST00000283871,NM_000187.3;HGD,missense_variant,p.Val27Ala,ENST00000476082,;HGD,non_coding_transcript_exon_variant,,ENST00000488183,;HGD,non_coding_transcript_exon_variant,,ENST00000485313,;HGD,non_coding_transcript_exon_variant,,ENST00000466528,;HGD,downstream_gene_variant,,ENST00000480862,;							MODERATE	203/1338	V68A	HGD_HUMAN			Transcript		benign(0.026)	.	ENSP00000283871		CCDS3000.1			1	
HSPG2	0	LGGM	GRCh37	1	22179275	22179275	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	23	5	.	.	ENST00000374695.3:c.6642C>G	p.Gly2214=	p.G2214=	ENST00000374695	NM_005529.5	2214	ggC/ggG	0	1	1	UPI0000212778	0		ENST00000374695		ENSG00000142798	5273		28			HGNC	p.G2214G		HSPG2		SNV			1				ENST00000374695	protein_coding			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		G		C		6722/14327				B6EU51_HUMAN			YES	HSPG2,synonymous_variant,p.=,ENST00000374695,NM_005529.5;HSPG2,synonymous_variant,p.=,ENST00000430507,;HSPG2,upstream_gene_variant,,ENST00000453796,;HSPG2,intron_variant,,ENST00000493940,;							LOW	6642/13176		PGBM_HUMAN			Transcript			.	ENSP00000363827		CCDS30625.1			1	
ATP6V0A4	0	LGGM	GRCh37	7	138429910	138429910	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	65	5	.	.	ENST00000310018.2:c.1436C>G	p.Ser479Cys	p.S479C	ENST00000310018	NM_020632.2	479	tCt/tGt	0	1	1	UPI000013CDFD	0	NA	ENST00000310018		ENSG00000105929	866		70	3.845		HGNC	p.S479C		ATP6V0A4		SNV			1				ENST00000310018	protein_coding	getma.org/?cm=var&var=hg19,7,138429910,G,C&fts=all		Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF26		S/C		C	high	1719/3135		getma.org/?cm=msa&ty=f&p=VPP4_HUMAN&rb=26&re=831&var=S479C	deleterious(0.01)				YES	ATP6V0A4,missense_variant,p.Ser479Cys,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,missense_variant,p.Ser479Cys,ENST00000393054,NM_130841.2;ATP6V0A4,missense_variant,p.Ser479Cys,ENST00000353492,;ATP6V0A4,intron_variant,,ENST00000471085,;ATP6V0A4,non_coding_transcript_exon_variant,,ENST00000478480,;							MODERATE	1436/2523	S479C	VPP4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000308122		CCDS5849.1			1	
TYR	0	LGGM	GRCh37	11	88911830	88911830	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	84	5	.	.	ENST00000263321.5:c.709G>C	p.Asp237His	p.D237H	ENST00000263321	NM_000372.4	237	Gac/Cac	0	1	1	UPI000004441A	0	getma.org/pdb.php?prot=TYRO_HUMAN&from=170&to=403&var=D237H	ENST00000263321		ENSG00000077498	12442		89	4.07		HGNC	p.D237H		TYR		SNV			1				ENST00000263321	protein_coding	getma.org/?cm=var&var=hg19,11,88911830,G,C&fts=all		Gene3D:1.10.1280.10,Pfam_domain:PF00264,Prints_domain:PR00092,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16,Superfamily_domains:SSF48056		D/H		C	high	1211/2485		getma.org/?cm=msa&ty=f&p=TYRO_HUMAN&rb=170&re=403&var=D237H	deleterious(0)	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN			YES	TYR,missense_variant,p.Asp237His,ENST00000263321,NM_000372.4;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;							MODERATE	709/1590	D237H	TYRO_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263321		CCDS8284.1			1	
PLEKHA5	0	LGGM	GRCh37	12	19496278	19496278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	41	5	.	.	ENST00000429027.2:c.2572C>A	p.Arg858Ser	p.R858S	ENST00000429027	NM_001256470.1	858	Cgt/Agt	0	1		UPI0000040B78	0	NA	ENST00000299275		ENSG00000052126	30036		46	1.7		HGNC	p.R92S		PLEKHA5		SNV							ENST00000538972	protein_coding	getma.org/?cm=var&var=hg19,12,19496278,C,A&fts=all		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF3		R/S		A	low	2269/4238		getma.org/?cm=msa&ty=f&p=PKHA5_HUMAN&rb=276&re=917&var=R755S	tolerated(0.07)	F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN				PLEKHA5,missense_variant,p.Arg813Ser,ENST00000538714,NM_001143821.2;PLEKHA5,missense_variant,p.Arg858Ser,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Arg755Ser,ENST00000317589,;PLEKHA5,missense_variant,p.Arg813Ser,ENST00000355397,;PLEKHA5,missense_variant,p.Arg686Ser,ENST00000424268,;PLEKHA5,missense_variant,p.Arg755Ser,ENST00000299275,NM_019012.5;PLEKHA5,missense_variant,p.Arg755Ser,ENST00000359180,;PLEKHA5,missense_variant,p.Arg674Ser,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Arg513Ser,ENST00000539256,;PLEKHA5,missense_variant,p.Arg647Ser,ENST00000536974,;PLEKHA5,missense_variant,p.Arg92Ser,ENST00000538972,;PLEKHA5,non_coding_transcript_exon_variant,,ENST00000538068,;							MODERATE	2263/3351	R755S	PKHA5_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000299275		CCDS8682.1			1	
DCC	0	LGGM	GRCh37	18	50929223	50929223	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	74	5	.	.	ENST00000442544.2:c.2895G>T	p.Val965=	p.V965=	ENST00000442544	NM_005215.3	965	gtG/gtT	0	1	1	UPI00001AEDC6	0		ENST00000442544		ENSG00000187323	2701		79			HGNC	p.V600V		DCC		SNV			1				ENST00000581580	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF68,SMART_domains:SM00060,Superfamily_domains:SSF49265		V		T		3511/5721				J3QQJ6_HUMAN			YES	DCC,synonymous_variant,p.=,ENST00000442544,NM_005215.3;DCC,synonymous_variant,p.=,ENST00000581580,;DCC,synonymous_variant,p.=,ENST00000412726,;DCC,synonymous_variant,p.=,ENST00000579941,;DCC,3_prime_UTR_variant,,ENST00000304775,;							LOW	2895/4344		DCC_HUMAN			Transcript			.	ENSP00000389140		CCDS11952.1			1	
NUAK2	0	LGGM	GRCh37	1	205280850	205280850	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	43	5	.	.	ENST00000367157.3:c.335T>A	p.Ile112Asn	p.I112N	ENST00000367157	NM_030952.1	112	aTc/aAc	0	1	1	UPI0000037D77	0	getma.org/pdb.php?prot=NUAK2_HUMAN&from=53&to=303&var=I112N	ENST00000367157		ENSG00000163545	29558		48	4.205		HGNC	p.I112N		NUAK2		SNV							ENST00000367157	protein_coding	getma.org/?cm=var&var=hg19,1,205280850,A,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF133,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/N		T	high	462/3405		getma.org/?cm=msa&ty=f&p=NUAK2_HUMAN&rb=53&re=303&var=I112N	deleterious(0)	Q68E04_HUMAN,B4E0Y5_HUMAN			YES	NUAK2,missense_variant,p.Ile112Asn,ENST00000367157,NM_030952.1;							MODERATE	335/1887	I112N	NUAK2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000356125		CCDS1453.1			1	
AQR	0	LGGM	GRCh37	15	35159725	35159725	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	31	6	.	.	ENST00000156471.5:c.3854G>A	p.Arg1285Lys	p.R1285K	ENST00000156471	NM_014691.2	1285	aGg/aAg	0	1	1	UPI00001C1F85	0	getma.org/pdb.php?prot=AQR_HUMAN&from=1115&to=1308&var=R1285K	ENST00000156471		ENSG00000021776	29513		37	1.96		HGNC	p.R1285K		AQR		SNV							ENST00000156471	protein_coding	getma.org/?cm=var&var=hg19,15,35159725,C,T&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF5,Pfam_domain:PF13087,PIRSF_domain:PIRSF038901,Superfamily_domains:SSF52540		R/K		T	medium	4080/5945		getma.org/?cm=msa&ty=f&p=AQR_HUMAN&rb=1115&re=1308&var=R1285K	deleterious(0)				YES	AQR,missense_variant,p.Arg1285Lys,ENST00000156471,NM_014691.2;AQR,splice_region_variant,,ENST00000543879,;AQR,splice_region_variant,,ENST00000559090,;AQR,upstream_gene_variant,,ENST00000559767,;							MODERATE	3854/4458	R1285K	AQR_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000156471		CCDS42013.1			1	
SHOX2	0	LGGM	GRCh37	3	157823717	157823717	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	42	6	.	.	ENST00000389589.4:c.97C>A	p.Pro33Thr	p.P33T	ENST00000389589	NM_003030.4	33	Ccg/Acg	0	1		UPI00001696A9	0	NA	ENST00000441443		ENSG00000168779	10854		48	0		HGNC	p.P33T		SHOX2		SNV							ENST00000425436	protein_coding	getma.org/?cm=var&var=hg19,3,157823717,G,T&fts=all						T	neutral	236/1171		getma.org/?cm=msa&ty=f&p=SHOX2_HUMAN&rb=1&re=140&var=P33T		A6NLG4_HUMAN				SHOX2,missense_variant,p.Pro33Thr,ENST00000389589,NM_003030.4;SHOX2,missense_variant,p.Pro33Thr,ENST00000425436,NM_001163678.1,NM_006884.3;SHOX2,missense_variant,p.Pro33Thr,ENST00000483851,;RSRC1,5_prime_UTR_variant,,ENST00000480820,;SHOX2,5_prime_UTR_variant,,ENST00000441443,;SHOX2,upstream_gene_variant,,ENST00000490689,;RSRC1,upstream_gene_variant,,ENST00000464171,;RSRC1,upstream_gene_variant,,ENST00000295930,NM_016625.3,NM_001271838.1;RSRC1,upstream_gene_variant,,ENST00000312179,NM_001271834.1;RSRC1,upstream_gene_variant,,ENST00000475278,;RSRC1,upstream_gene_variant,,ENST00000476899,;RSRC1,upstream_gene_variant,,ENST00000471994,;RSRC1,upstream_gene_variant,,ENST00000494002,;SHOX2,non_coding_transcript_exon_variant,,ENST00000554685,;RSRC1,upstream_gene_variant,,ENST00000471911,;RSRC1,upstream_gene_variant,,ENST00000468344,;RSRC1,upstream_gene_variant,,ENST00000480119,;							MODIFIER	-/573	P33T				Transcript			.	ENSP00000397099					1	
LEPRE1	0	LGGM	GRCh37	1	43218256	43218256	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	36	6	.	.	ENST00000236040.4:c.1425C>T	p.Asp475=	p.D475=	ENST00000236040	NM_001243246.1	475	gaC/gaT	0	1		UPI000003B0B3	0		ENST00000296388		ENSG00000117385	19316	8.64E-05	42			HGNC	p.D475D	rs373467876	LEPRE1	0.000242	SNV	A:0		1	0.000192			ENST00000236040	protein_coding			hmmpanther:PTHR14049:SF5,hmmpanther:PTHR14049,SMART_domains:SM00702		D	A:0.0002	A		1477/2585	8.99E-05			B4DTG8_HUMAN,B4DNM8_HUMAN				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,synonymous_variant,p.=,ENST00000447502,;LEPRE1,upstream_gene_variant,,ENST00000462474,;LEPRE1,synonymous_variant,p.=,ENST00000431412,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000495874,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460031,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000481465,;LEPRE1,downstream_gene_variant,,ENST00000463465,;LEPRE1,upstream_gene_variant,,ENST00000460831,;							LOW	1425/2211		P3H1_HUMAN			Transcript			.	ENSP00000296388	0.000107	CCDS472.2			1	
MAST1	0	LGGM	GRCh37	19	12958809	12958809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	25	6	.	.	ENST00000251472.4:c.712G>A	p.Gly238Ser	p.G238S	ENST00000251472	NM_014975.2	238	Ggc/Agc	0	1	1	UPI000004A042	0	getma.org/pdb.php?prot=MAST1_HUMAN&from=61&to=338&var=G238S	ENST00000251472		ENSG00000105613	19034		31	2.56		HGNC	p.G238S		MAST1		SNV							ENST00000251472	protein_coding	getma.org/?cm=var&var=hg19,19,12958809,G,A&fts=all		Superfamily_domains:0050107,Gene3D:1v9vA01,Pfam_domain:PF08926,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150		G/S		A	medium	751/4833		getma.org/?cm=msa&ty=f&p=MAST1_HUMAN&rb=61&re=338&var=G238S	deleterious(0)				YES	MAST1,missense_variant,p.Gly238Ser,ENST00000251472,NM_014975.2;MAST1,missense_variant,p.Gly234Ser,ENST00000591495,;MAST1,missense_variant,p.Gly192Ser,ENST00000588379,;MAST1,missense_variant,p.Gly60Ser,ENST00000590204,;HOOK2,intron_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000590883,;MAST1,upstream_gene_variant,,ENST00000589040,;MAST1,downstream_gene_variant,,ENST00000592713,;							MODERATE	712/4713	G238S	MAST1_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000251472		CCDS32921.1			1	
RXFP3	0	LGGM	GRCh37	5	33937025	33937025	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	17	6	.	.	ENST00000330120.3:c.180G>A	p.Ala60=	p.A60=	ENST00000330120	NM_016568.3	60	gcG/gcA	0	1	1	UPI0000046AEB	0		ENST00000330120		ENSG00000182631	24883		23			HGNC	p.A60A	rs747578372	RXFP3		SNV							ENST00000330120	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF48		A		A		535/2533	1.54E-05						YES	RXFP3,synonymous_variant,p.=,ENST00000330120,NM_016568.3;							LOW	180/1410		RL3R1_HUMAN			Transcript			.	ENSP00000328708	8.24E-06	CCDS3900.1			1	
ABCB8	0	LGGM	GRCh37	7	150742380	150742380	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	32	6	.	.	ENST00000358849.4:c.2101G>T	p.Ala701Ser	p.A701S	ENST00000358849	NM_007188.3	701	Gcg/Tcg	0	1		UPI000013E41A	0	NA	ENST00000297504		ENSG00000197150	49		38	0.345		HGNC	p.A718S		ABCB8		SNV							ENST00000297504	protein_coding	getma.org/?cm=var&var=hg19,7,150742380,G,T&fts=all		hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF167,Low_complexity_(Seg):seg		A/S		T	neutral	2218/2487		getma.org/?cm=msa&ty=f&p=ABCB8_HUMAN&rb=641&re=735&var=A718S	tolerated_low_confidence(1)	B3KSN3_HUMAN,B3KND2_HUMAN				ABCB8,missense_variant,p.Ala701Ser,ENST00000358849,NM_007188.3;ABCB8,missense_variant,p.Ala718Ser,ENST00000297504,NM_001282291.1;ABCB8,missense_variant,p.Ala676Ser,ENST00000498578,NM_001282292.1;ABCB8,missense_variant,p.Ala613Ser,ENST00000542328,NM_001282293.1;ABCB8,3_prime_UTR_variant,,ENST00000356058,;ASIC3,upstream_gene_variant,,ENST00000357922,NM_020322.3;ASIC3,upstream_gene_variant,,ENST00000349064,NM_004769.3,NM_020321.3;ASIC3,upstream_gene_variant,,ENST00000297512,;ABCB8,3_prime_UTR_variant,,ENST00000466514,;ABCB8,3_prime_UTR_variant,,ENST00000482309,;ABCB8,non_coding_transcript_exon_variant,,ENST00000482899,;ASIC3,upstream_gene_variant,,ENST00000377904,;ABCB8,downstream_gene_variant,,ENST00000470645,;ASIC3,upstream_gene_variant,,ENST00000468325,;ASIC3,upstream_gene_variant,,ENST00000474135,;							MODERATE	2152/2208	A718S	ABCB8_HUMAN			Transcript		benign(0)	.	ENSP00000297504		CCDS64799.1			1	
EHBP1L1	0	LGGM	GRCh37	11	65350030	65350030	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	48	6	.	.	ENST00000309295.4:c.1887G>T	p.Glu629Asp	p.E629D	ENST00000309295	NM_001099409.1	629	gaG/gaT	0	1	1	UPI00001605A9	0	NA	ENST00000309295		ENSG00000173442	30682		54	1.1		HGNC	p.E629D		EHBP1L1		SNV							ENST00000309295	protein_coding	getma.org/?cm=var&var=hg19,11,65350030,G,T&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF112		E/D		T	low	2152/5185		getma.org/?cm=msa&ty=f&p=EH1L1_HUMAN&rb=201&re=1029&var=E629D	tolerated(0.06)				YES	EHBP1L1,missense_variant,p.Glu629Asp,ENST00000309295,NM_001099409.1;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;							MODERATE	1887/4572	E629D	EH1L1_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000312671		CCDS44649.1			1	
LRP1	0	LGGM	GRCh37	12	57598975	57598975	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	21	6	.	.	ENST00000243077.3:c.11278C>A	p.Arg3760Ser	p.R3760S	ENST00000243077	NM_002332.2	3760	Cgc/Agc	0	1	1	UPI00001B044F	0	getma.org/pdb.php?prot=LRP1_HUMAN&from=3739&to=3776&var=R3760S	ENST00000243077		ENSG00000123384	6692		27	2.805		HGNC	p.R3760S		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57598975,C,A&fts=all		Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,SMART_domains:SM00181,SMART_domains:SM00192,Superfamily_domains:SSF57424		R/S		A	medium	11744/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=3739&re=3776&var=R3760S		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Arg3760Ser,ENST00000243077,NM_002332.2;LRP1,downstream_gene_variant,,ENST00000555124,;LRP1,non_coding_transcript_exon_variant,,ENST00000556356,;LRP1,non_coding_transcript_exon_variant,,ENST00000451724,;LRP1,downstream_gene_variant,,ENST00000556247,;LRP1,downstream_gene_variant,,ENST00000555941,;							MODERATE	11278/13635	R3760S	LRP1_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000243077		CCDS8932.1			1	
PTGS2	0	LGGM	GRCh37	1	186646915	186646915	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	17	6	.	.	ENST00000367468.5:c.505C>A	p.Leu169Ile	p.L169I	ENST00000367468	NM_000963.2	169	Cta/Ata	0	1	1	UPI000000D926	0	getma.org/pdb.php?prot=PGH2_HUMAN&from=126&to=569&var=L169I	ENST00000367468		ENSG00000073756	9605		23	1.855		HGNC	p.L169I		PTGS2		SNV							ENST00000367468	protein_coding	getma.org/?cm=var&var=hg19,1,186646915,G,T&fts=all		Gene3D:1.10.640.10,Pfam_domain:PF03098,PROSITE_profiles:PS50292,hmmpanther:PTHR11903,hmmpanther:PTHR11903:SF8,Superfamily_domains:SSF48113		L/I		T	low	642/4514		getma.org/?cm=msa&ty=f&p=PGH2_HUMAN&rb=126&re=569&var=L169I	tolerated(0.18)	D9MWI3_HUMAN			YES	PTGS2,missense_variant,p.Leu169Ile,ENST00000367468,NM_000963.2;RP5-973M2.2,upstream_gene_variant,,ENST00000608917,;PTGS2,non_coding_transcript_exon_variant,,ENST00000490885,;PTGS2,upstream_gene_variant,,ENST00000466691,;PTGS2,downstream_gene_variant,,ENST00000559800,;PTGS2,intron_variant,,ENST00000559627,;							MODERATE	505/1815	L169I	PGH2_HUMAN			Transcript		benign(0.04)	.	ENSP00000356438		CCDS1371.1			1	
NLGN1	0	LGGM	GRCh37	3	173997130	173997130	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	67	6	.	.	ENST00000457714.1:c.1339C>T	p.His447Tyr	p.H447Y	ENST00000457714	NM_014932.3	447	Cat/Tat	0	1	1	UPI0000072F54	0	getma.org/pdb.php?prot=NLGN1_HUMAN&from=29&to=623&var=H464Y	ENST00000457714		ENSG00000169760	14291		73	0.715		HGNC	p.H447Y		NLGN1		SNV							ENST00000361589	protein_coding	getma.org/?cm=var&var=hg19,3,173997130,C,T&fts=all		Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52		H/Y		T	neutral	1768/8242		getma.org/?cm=msa&ty=f&p=NLGN1_HUMAN&rb=29&re=623&var=H464Y	deleterious(0.05)				YES	NLGN1,missense_variant,p.His447Tyr,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.His447Tyr,ENST00000361589,;NLGN1,missense_variant,p.His447Tyr,ENST00000545397,;NLGN1,missense_variant,p.His487Tyr,ENST00000401917,;NLGN1,downstream_gene_variant,,ENST00000415045,;NLGN1,non_coding_transcript_exon_variant,,ENST00000466350,;NLGN1,downstream_gene_variant,,ENST00000469727,;NLGN1,downstream_gene_variant,,ENST00000469564,;NLGN1,downstream_gene_variant,,ENST00000490929,;							MODERATE	1339/2472	H464Y	NLGN1_HUMAN			Transcript		benign(0.11)	.	ENSP00000392500		CCDS3222.1			1	
LINC02910	0	LGGM	GRCh37	20	58645756	58645756	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	46	7	.	.	ENST00000313426.1:c.174C>T	p.Val58=	p.V58=	ENST00000313426	NM_173644.1	58	gtC/gtT	0	1	1	UPI000006F2F7	0		ENST00000313426		ENSG00000176659	26601		53			HGNC	p.V58V		C20orf197		SNV							ENST00000313426	protein_coding					V		T		480/2732							YES	C20orf197,synonymous_variant,p.=,ENST00000313426,NM_173644.1;							LOW	174/381		CT197_HUMAN			Transcript			.	ENSP00000316457		CCDS13487.1			1	
AGAP7	0	LGGM	GRCh37	10	51464730	51464730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	24	7	.	.	ENST00000374095.5:c.1726G>T	p.Asp576Tyr	p.D576Y	ENST00000374095	NM_001077685.2	576	Gac/Tac	0	1	1	UPI000016167D	0	getma.org/pdb.php?prot=AGAP7_HUMAN&from=568&to=661&var=D576Y	ENST00000374095		ENSG00000204169	23465		31	1.585		HGNC	p.D576Y		AGAP7		SNV							ENST00000374095	protein_coding	getma.org/?cm=var&var=hg19,10,51464730,C,A&fts=all		Superfamily_domains:SSF48403,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF213,PROSITE_profiles:PS50297		D/Y		A	low	1852/2420		getma.org/?cm=msa&ty=f&p=AGAP7_HUMAN&rb=568&re=661&var=D576Y	deleterious(0)				YES	AGAP7,missense_variant,p.Asp576Tyr,ENST00000374095,NM_001077685.2;							MODERATE	1726/1992	D576Y	AGAP7_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000363208		CCDS41524.1			1	
CNTLN	0	LGGM	GRCh37	9	17395011	17395011	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	29	7	.	.	ENST00000380647.3:c.2559G>T	p.Met853Ile	p.M853I	ENST00000380647		853	atG/atT	0	1	1	UPI0000458809	0	NA	ENST00000380647		ENSG00000044459	23432		36	2.175		HGNC	p.M853I		CNTLN		SNV							ENST00000425824	protein_coding	getma.org/?cm=var&var=hg19,9,17395011,G,T&fts=all		hmmpanther:PTHR18957,hmmpanther:PTHR18957:SF0		M/I		T	medium	2643/5576		getma.org/?cm=msa&ty=f&p=CNTLN_HUMAN&rb=779&re=1371&var=M853I	tolerated(0.1)				YES	CNTLN,missense_variant,p.Met853Ile,ENST00000380647,;CNTLN,missense_variant,p.Met853Ile,ENST00000425824,NM_017738.2;CNTLN,missense_variant,p.Met853Ile,ENST00000262360,;							MODERATE	2559/4221	M853I	CNTLN_HUMAN			Transcript		benign(0.023)	.	ENSP00000370021		CCDS43789.1			1	
BAHD1	0	LGGM	GRCh37	15	40751874	40751874	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	35	7	.	.	ENST00000416165.1:c.1211T>A	p.Leu404Gln	p.L404Q	ENST00000416165	NM_014952.3	404	cTg/cAg	0	1	1	UPI000013D778	0	NA	ENST00000416165		ENSG00000140320	29153		42	0.55		HGNC	p.L404Q		BAHD1		SNV							ENST00000560846	protein_coding	getma.org/?cm=var&var=hg19,15,40751874,T,A&fts=all		hmmpanther:PTHR12505		L/Q		A	neutral	1282/4526		getma.org/?cm=msa&ty=f&p=BAHD1_HUMAN&rb=1&re=585&var=L404Q	deleterious(0)				YES	BAHD1,missense_variant,p.Leu404Gln,ENST00000561234,;BAHD1,missense_variant,p.Leu404Gln,ENST00000416165,NM_014952.3;BAHD1,missense_variant,p.Leu404Gln,ENST00000560846,;RP11-64K12.8,downstream_gene_variant,,ENST00000559730,;							MODERATE	1211/2343	L404Q	BAHD1_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000396976		CCDS10058.1			1	
LRRK2	0	LGGM	GRCh37	12	40689314	40689314	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	24	7	.	.	ENST00000298910.7:c.2964C>T	p.Asp988=	p.D988=	ENST00000298910	NM_198578.3	988	gaC/gaT	0	1	1	UPI00006C128E	0		ENST00000298910		ENSG00000188906	18618		31			HGNC	p.D988D		LRRK2		SNV			1				ENST00000298910	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417,Superfamily_domains:SSF52058		D		T		3022/9158							YES	LRRK2,synonymous_variant,p.=,ENST00000298910,NM_198578.3;LRRK2,synonymous_variant,p.=,ENST00000343742,;LRRK2,synonymous_variant,p.=,ENST00000430804,;LRRK2,upstream_gene_variant,,ENST00000479187,;							LOW	2964/7584		LRRK2_HUMAN			Transcript			.	ENSP00000298910		CCDS31774.1			1	
HEXA	0	LGGM	GRCh37	15	72638918	72638918	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	127	7	.	.	ENST00000268097.5:c.1280A>G	p.Tyr427Cys	p.Y427C	ENST00000268097	NM_000520.4	427	tAt/tGt	0	1	1	UPI000013D798	0	getma.org/pdb.php?prot=HEXA_HUMAN&from=167&to=488&var=Y427C	ENST00000268097		ENSG00000213614	4878		134	3.11		HGNC	p.Y427C	rs756026917	HEXA		SNV			1				ENST00000268097	protein_coding	getma.org/?cm=var&var=hg19,15,72638918,T,C&fts=all		Superfamily_domains:SSF51445,PIRSF_domain:PIRSF001093,Gene3D:3.20.20.80,Pfam_domain:PF00728,hmmpanther:PTHR22600,hmmpanther:PTHR22600:SF7		Y/C		C	medium	1784/2737	1.50E-05	getma.org/?cm=msa&ty=f&p=HEXA_HUMAN&rb=167&re=488&var=Y427C	deleterious(0)	H3BS10_HUMAN,G3XL83_HUMAN			YES	HEXA,missense_variant,p.Tyr427Cys,ENST00000268097,NM_000520.4;HEXA,missense_variant,p.Tyr438Cys,ENST00000566304,;HEXA,missense_variant,p.Tyr427Cys,ENST00000567159,;HEXA,missense_variant,p.Tyr254Cys,ENST00000429918,;HEXA,intron_variant,,ENST00000457859,;RP11-106M3.3,non_coding_transcript_exon_variant,,ENST00000570175,;RP11-106M3.2,intron_variant,,ENST00000379915,;HEXA,downstream_gene_variant,,ENST00000569509,;HEXA,3_prime_UTR_variant,,ENST00000567411,;HEXA,3_prime_UTR_variant,,ENST00000566672,;HEXA,3_prime_UTR_variant,,ENST00000569410,;HEXA,intron_variant,,ENST00000568777,;HEXA,intron_variant,,ENST00000567027,;HEXA,intron_variant,,ENST00000563762,;HEXA,upstream_gene_variant,,ENST00000565873,;HEXA,downstream_gene_variant,,ENST00000568260,;HEXA,upstream_gene_variant,,ENST00000564677,;HEXA,upstream_gene_variant,,ENST00000569116,;							MODERATE	1280/1590	Y427C	HEXA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000268097	8.24E-06	CCDS10243.1			1	
PPRC1	0	LGGM	GRCh37	10	103898417	103898417	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	18	7	.	.	ENST00000278070.2:c.384C>G	p.Leu128=	p.L128=	ENST00000278070	NM_015062.3	128	ctC/ctG	0	1	1	UPI000013DB5C	0		ENST00000278070		ENSG00000148840	30025		25			HGNC	p.L128L		PPRC1		SNV							ENST00000413464	protein_coding			hmmpanther:PTHR15528,hmmpanther:PTHR15528:SF5		L		G		423/5330							YES	PPRC1,synonymous_variant,p.=,ENST00000278070,NM_015062.3,NM_001288728.1;PPRC1,synonymous_variant,p.=,ENST00000413464,NM_001288727.1;PPRC1,upstream_gene_variant,,ENST00000370012,;PPRC1,upstream_gene_variant,,ENST00000489648,;PPRC1,upstream_gene_variant,,ENST00000462933,;							LOW	384/4995		PPRC1_HUMAN			Transcript			.	ENSP00000278070		CCDS7529.1			1	
HK2	0	LGGM	GRCh37	2	75115153	75115153	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	61	7	.	.	ENST00000290573.2:c.2343C>G	p.Ile781Met	p.I781M	ENST00000290573	NM_000189.4	781	atC/atG	0	1	1	UPI00000706E4	0	getma.org/pdb.php?prot=HXK2_HUMAN&from=671&to=910&var=I781M	ENST00000290573		ENSG00000159399	4923		68	3.27		HGNC	p.I753M		HK2		SNV							ENST00000409174	protein_coding	getma.org/?cm=var&var=hg19,2,75115153,C,G&fts=all		Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF4,Superfamily_domains:SSF53067		I/M		G	medium	2943/5772		getma.org/?cm=msa&ty=f&p=HXK2_HUMAN&rb=671&re=910&var=I781M	deleterious(0.02)	Q7Z7Q6_HUMAN,Q53SG7_HUMAN,Q53QX9_HUMAN,Q09LL6_HUMAN,E9PB90_HUMAN			YES	HK2,missense_variant,p.Ile781Met,ENST00000290573,NM_000189.4;HK2,missense_variant,p.Ile753Met,ENST00000409174,;							MODERATE	2343/2754	I781M	HXK2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000290573		CCDS1956.1			1	
MED22	0	LGGM	GRCh37	9	136208439	136208439	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	16	8	.	.	ENST00000491289.1:c.519C>A	p.Ser173=	p.S173=	ENST00000491289		173	tcC/tcA	0	1		UPI000013623C	0		ENST00000343730		ENSG00000148297	11477		24			HGNC	p.S173S		MED22		SNV							ENST00000491289	protein_coding			hmmpanther:PTHR12434		S		T		753/1437				Q5T8T8_HUMAN,Q5T8T6_HUMAN,E9PGW7_HUMAN,E7EN96_HUMAN				MED22,synonymous_variant,p.=,ENST00000491289,;MED22,synonymous_variant,p.=,ENST00000343730,NM_133640.4;MED22,3_prime_UTR_variant,,ENST00000476080,;MED22,3_prime_UTR_variant,,ENST00000344469,NM_181491.2;MED22,downstream_gene_variant,,ENST00000371999,;MED22,downstream_gene_variant,,ENST00000457204,;MED22,downstream_gene_variant,,ENST00000446777,;MED22,downstream_gene_variant,,ENST00000494177,;Y_RNA,upstream_gene_variant,,ENST00000364581,;MED22,downstream_gene_variant,,ENST00000471524,;MED22,downstream_gene_variant,,ENST00000482295,;RP11-244N20.7,downstream_gene_variant,,ENST00000439130,;							LOW	519/603		MED22_HUMAN			Transcript			.	ENSP00000342343		CCDS6963.1			1	
IL18RAP	0	LGGM	GRCh37	2	103040516	103040516	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	25	8	.	.	ENST00000264260.2:c.316C>T	p.Gln106Ter	p.Q106*	ENST00000264260	NM_003853.2	106	Cag/Tag	0	1	1	UPI0000071CAF	0	NA	ENST00000264260		ENSG00000115607	5989		33	0		HGNC	p.Q106X		IL18RAP		SNV							ENST00000264260	protein_coding	getma.org/?cm=var&var=hg19,2,103040516,C,T&fts=all		hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF4		Q/*		T	NA	905/2773		NA		Q3KPE8_HUMAN,C9JLE2_HUMAN			YES	IL18RAP,stop_gained,p.Gln106Ter,ENST00000264260,NM_003853.2;IL18RAP,intron_variant,,ENST00000409369,;IL18RAP,downstream_gene_variant,,ENST00000450855,;IL18RAP,non_coding_transcript_exon_variant,,ENST00000497795,;							HIGH	316/1800	Q106*	I18RA_HUMAN			Transcript			.	ENSP00000264260		CCDS2061.1			1	
WDR33	0	LGGM	GRCh37	2	128526527	128526527	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	11	8	.	.	ENST00000322313.4:c.253G>C	p.Asp85His	p.D85H	ENST00000322313	NM_018383.4	85	Gat/Cat	0	1	1	UPI000013D032	0	NA	ENST00000322313		ENSG00000136709	25651		19	0.805		HGNC	p.D85H		WDR33		SNV							ENST00000409658	protein_coding	getma.org/?cm=var&var=hg19,2,128526527,C,G&fts=all		hmmpanther:PTHR22836,Superfamily_domains:SSF50978		D/H		G	low	412/9471		getma.org/?cm=msa&ty=f&p=WDR33_HUMAN&rb=1&re=150&var=D85H	deleterious(0.03)	C9J8B4_HUMAN,B9A053_HUMAN			YES	WDR33,missense_variant,p.Asp85His,ENST00000322313,NM_018383.4;WDR33,missense_variant,p.Asp85His,ENST00000393006,NM_001006623.2;WDR33,missense_variant,p.Asp85His,ENST00000409658,NM_001006622.2;WDR33,missense_variant,p.Asp7His,ENST00000436787,;WDR33,missense_variant,p.Asp85His,ENST00000408998,;							MODERATE	253/4011	D85H	WDR33_HUMAN			Transcript		unknown(0)	.	ENSP00000325377		CCDS2150.1			1	
CXCR6	0	LGGM	GRCh37	3	45988717	45988717	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	31	8	.	.	ENST00000458629.1:c.744C>G	p.Asn248Lys	p.N248K	ENST00000458629		248	aaC/aaG	0	1		UPI0000001635	0	getma.org/pdb.php?prot=CXCR6_HUMAN&from=48&to=288&var=N248K	ENST00000304552		ENSG00000172215	16647		39	3.79		HGNC	p.N248K		CXCR6		SNV							ENST00000304552	protein_coding	getma.org/?cm=var&var=hg19,3,45988717,C,G&fts=all		Prints_domain:PR00237,Prints_domain:PR01105,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF66,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		N/K		G	high	834/1962		getma.org/?cm=msa&ty=f&p=CXCR6_HUMAN&rb=48&re=288&var=N248K	deleterious(0)	A0N0N3_HUMAN				CXCR6,missense_variant,p.Asn248Lys,ENST00000458629,;CXCR6,missense_variant,p.Asn248Lys,ENST00000438735,;CXCR6,missense_variant,p.Asn248Lys,ENST00000304552,NM_006564.1;CXCR6,missense_variant,p.Asn248Lys,ENST00000457814,;FYCO1,intron_variant,,ENST00000296137,NM_024513.3;FYCO1,intron_variant,,ENST00000535325,;FYCO1,intron_variant,,ENST00000433878,;FYCO1,intron_variant,,ENST00000438446,;							MODERATE	744/1029	N248K	CXCR6_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000304414		CCDS2735.1			1	
PPIP5K2	0	LGGM	GRCh37	5	102494158	102494158	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	7	8	.	.	ENST00000321521.9:c.1618G>A	p.Asp540Asn	p.D540N	ENST00000321521		540	Gat/Aat	0	1		UPI0000070504	0	NA	ENST00000358359		ENSG00000145725	29035		15	2.24		HGNC	p.D540N		PPIP5K2		SNV							ENST00000358359	protein_coding	getma.org/?cm=var&var=hg19,5,102494158,G,A&fts=all		Superfamily_domains:SSF53254,Gene3D:3.40.50.1240,Pfam_domain:PF00328,hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750		D/N		A	medium	2127/5813		getma.org/?cm=msa&ty=f&p=VIP2_HUMAN&rb=379&re=894&var=D540N	deleterious(0.04)	K7EPT7_HUMAN,D6RFG4_HUMAN				PPIP5K2,missense_variant,p.Asp540Asn,ENST00000321521,;PPIP5K2,missense_variant,p.Asp540Asn,ENST00000358359,NM_001281471.1,NM_001276277.1;PPIP5K2,missense_variant,p.Asp540Asn,ENST00000414217,NM_015216.3;PPIP5K2,downstream_gene_variant,,ENST00000507921,;PPIP5K2,splice_region_variant,,ENST00000513500,;							MODERATE	1618/3732	D540N	VIP2_HUMAN			Transcript		possibly_damaging(0.485)	.	ENSP00000351126		CCDS64212.1			1	
CELSR3	0	LGGM	GRCh37	3	48685374	48685374	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	32	8	.	.	ENST00000164024.4:c.7029C>A	p.Tyr2343Ter	p.Y2343*	ENST00000164024	NM_001407.2	2343	taC/taA	0	1	1	UPI00001AE5A6	0	NA	ENST00000164024		ENSG00000008300	3230		40	0		HGNC	p.Y2348X		CELSR3		SNV							ENST00000544264	protein_coding	getma.org/?cm=var&var=hg19,3,48685374,G,T&fts=all		Pfam_domain:PF12003,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38		Y/*		T	NA	7310/11956		NA		B4DSQ9_HUMAN			YES	CELSR3,stop_gained,p.Tyr2348Ter,ENST00000544264,;CELSR3,stop_gained,p.Tyr2343Ter,ENST00000164024,NM_001407.2;MIR4793,upstream_gene_variant,,ENST00000577502,;CELSR3,upstream_gene_variant,,ENST00000498057,;CELSR3,upstream_gene_variant,,ENST00000461362,;							HIGH	7029/9939	Y2343*	CELR3_HUMAN			Transcript			.	ENSP00000164024		CCDS2775.1			1	
VSIG4	0	LGGM	GRCh37	X	65252459	65252459	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	25	8	.	.	ENST00000374737.4:c.545C>A	p.Thr182Asn	p.T182N	ENST00000374737	NM_001257403.1	182	aCt/aAt	0	1	1	UPI000006F146	0	getma.org/pdb.php?prot=VSIG4_HUMAN&from=137&to=214&var=T182N	ENST00000374737		ENSG00000155659	17032		33	0.935		HGNC	p.T182N		VSIG4		SNV							ENST00000455586	protein_coding	getma.org/?cm=var&var=hg19,X,65252459,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR15466,hmmpanther:PTHR15466:SF1,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/N		T	low	654/1834		getma.org/?cm=msa&ty=f&p=VSIG4_HUMAN&rb=137&re=214&var=T182N	tolerated(0.09)				YES	VSIG4,missense_variant,p.Thr182Asn,ENST00000455586,NM_001184830.1;VSIG4,missense_variant,p.Thr182Asn,ENST00000374737,NM_001257403.1,NM_007268.2;VSIG4,missense_variant,p.Thr109Asn,ENST00000427538,;VSIG4,intron_variant,,ENST00000412866,NM_001100431.1,NM_001184831.1;							MODERATE	545/1200	T182N	VSIG4_HUMAN			Transcript		benign(0.012)	.	ENSP00000363869		CCDS14383.1			1	
LRIF1	0	LGGM	GRCh37	1	111494688	111494688	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	34	8	.	.	ENST00000369763.4:c.818C>T	p.Ala273Val	p.A273V	ENST00000369763	NM_018372.3	273	gCt/gTt	0	1	1	UPI0000205296	0	NA	ENST00000369763		ENSG00000121931	30299		42	0.805		HGNC	p.A273V	rs766203215	LRIF1		SNV				9.62E-05			ENST00000369763	protein_coding	getma.org/?cm=var&var=hg19,1,111494688,G,A&fts=all		hmmpanther:PTHR16131,hmmpanther:PTHR16131:SF2		A/V		A	low	1209/3475		getma.org/?cm=msa&ty=f&p=LRIF1_HUMAN&rb=201&re=400&var=A273V	tolerated(0.06)				YES	LRIF1,missense_variant,p.Ala273Val,ENST00000369763,NM_018372.3;LRIF1,intron_variant,,ENST00000494675,;LRIF1,intron_variant,,ENST00000485275,NM_001006945.1;RP11-96K19.2,intron_variant,,ENST00000440689,;							MODERATE	818/2310	A273V	LRIF1_HUMAN			Transcript		possibly_damaging(0.866)	.	ENSP00000358778	8.24E-06	CCDS30800.1			1	
XRCC5	0	LGGM	GRCh37	2	216986870	216986870	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	21	9	.	.	ENST00000392133.3:c.577C>G	p.Pro193Ala	p.P193A	ENST00000392133		193	Cca/Gca	0	1		UPI0000034133	0	getma.org/pdb.php?prot=XRCC5_HUMAN&from=9&to=244&var=P193A	ENST00000392132		ENSG00000079246	12833		30	2.42		HGNC	p.P193A		XRCC5		SNV							ENST00000392132	protein_coding	getma.org/?cm=var&var=hg19,2,216986870,C,G&fts=all		Superfamily_domains:SSF53300,PIRSF_domain:PIRSF016570,SMART_domains:SM00327,Gene3D:3.40.50.410,Pfam_domain:PF03731,hmmpanther:PTHR12604,hmmpanther:PTHR12604:SF3		P/A		G	medium	717/3428		getma.org/?cm=msa&ty=f&p=XRCC5_HUMAN&rb=9&re=244&var=P193A	tolerated(0.07)	Q53TC2_HUMAN,Q53T09_HUMAN,C9JZ81_HUMAN				XRCC5,missense_variant,p.Pro193Ala,ENST00000392133,;XRCC5,missense_variant,p.Pro193Ala,ENST00000392132,NM_021141.3;XRCC5,downstream_gene_variant,,ENST00000417391,;XRCC5,downstream_gene_variant,,ENST00000429133,;XRCC5,non_coding_transcript_exon_variant,,ENST00000460284,;XRCC5,upstream_gene_variant,,ENST00000493706,;XRCC5,downstream_gene_variant,,ENST00000451695,;							MODERATE	577/2199	P193A	XRCC5_HUMAN			Transcript		benign(0.071)	.	ENSP00000375977		CCDS2402.1			1	
EIF5B	0	LGGM	GRCh37	2	99995563	99995563	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	5	9	.	.	ENST00000289371.6:c.1924A>C	p.Thr642Pro	p.T642P	ENST00000289371	NM_015904.3	642	Aca/Cca	0	1	1	UPI0000207EC7	0	getma.org/pdb.php?prot=IF2P_HUMAN&from=629&to=844&var=T642P	ENST00000289371		ENSG00000158417	30793		14	3.235		HGNC	p.T642P		EIF5B		SNV							ENST00000289371	protein_coding	getma.org/?cm=var&var=hg19,2,99995563,A,C&fts=all		Prints_domain:PR00315,Superfamily_domains:SSF52540,Pfam_domain:PF00009,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00231,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF99		T/P		C	medium	2126/5777		getma.org/?cm=msa&ty=f&p=IF2P_HUMAN&rb=629&re=844&var=T642P		D3DVI5_HUMAN			YES	EIF5B,missense_variant,p.Thr642Pro,ENST00000289371,NM_015904.3;							MODERATE	1924/3663	T642P	IF2P_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000289371		CCDS42721.1			1	
PLEKHA6	0	LGGM	GRCh37	1	204197866	204197866	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	27	9	.	.	ENST00000272203.3:c.2875G>C	p.Ala959Pro	p.A959P	ENST00000272203	NM_014935.4	959	Gcc/Ccc	0	1	1	UPI000013D935	0	NA	ENST00000272203		ENSG00000143850	17053		36	1.7		HGNC	p.A979P		PLEKHA6		SNV							ENST00000414478	protein_coding	getma.org/?cm=var&var=hg19,1,204197866,C,G&fts=all		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF5		A/P		G	low	3192/7401		getma.org/?cm=msa&ty=f&p=PKHA6_HUMAN&rb=959&re=1048&var=A959P	deleterious(0)				YES	PLEKHA6,missense_variant,p.Ala959Pro,ENST00000272203,NM_014935.4;PLEKHA6,missense_variant,p.Ala979Pro,ENST00000414478,;							MODERATE	2875/3147	A959P	PKHA6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000272203		CCDS1444.1			1	
PPFIA2	0	LGGM	GRCh37	12	82147857	82147857	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	67	9	.	.	ENST00000549396.1:c.144C>A	p.Thr48=	p.T48=	ENST00000549396	NM_003625.3	48	acC/acA	0	1	1	UPI0000168655	0		ENST00000549396		ENSG00000139220	9246		76			HGNC	p.T48T		PPFIA2		SNV							ENST00000551442	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587		T		T		305/5363				H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN			YES	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.=,ENST00000333447,;PPFIA2,synonymous_variant,p.=,ENST00000551442,;PPFIA2,synonymous_variant,p.=,ENST00000547623,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000550798,;							LOW	144/3774		LIPA2_HUMAN			Transcript			.	ENSP00000450337		CCDS55857.1			1	
ADAM28	0	LGGM	GRCh37	8	24181492	24181492	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	17	9	.	.	ENST00000265769.4:c.866G>T	p.Arg289Leu	p.R289L	ENST00000265769	NM_014265.4	289	cGt/cTt	0	1	1	UPI000049E0B9	0	getma.org/pdb.php?prot=ADA28_HUMAN&from=204&to=399&var=R289L	ENST00000265769		ENSG00000042980	206		26	1.875		HGNC	p.R289L		ADAM28		SNV							ENST00000437154	protein_coding	getma.org/?cm=var&var=hg19,8,24181492,G,T&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF22,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		R/L		T	low	976/7052		getma.org/?cm=msa&ty=f&p=ADA28_HUMAN&rb=204&re=399&var=R289L	deleterious(0.02)	E5RGY1_HUMAN			YES	ADAM28,missense_variant,p.Arg289Leu,ENST00000265769,NM_014265.4;ADAM28,missense_variant,p.Arg36Leu,ENST00000397649,;ADAM28,missense_variant,p.Arg289Leu,ENST00000437154,NM_021777.3;ADAM28,missense_variant,p.Arg56Leu,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,;							MODERATE	866/2328	R289L	ADA28_HUMAN			Transcript		possibly_damaging(0.458)	.	ENSP00000265769		CCDS34865.1			1	
LRRC41	0	LGGM	GRCh37	1	46751418	46751418	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	37	9	.	.	ENST00000343304.6:c.1111A>G	p.Thr371Ala	p.T371A	ENST00000343304	NM_006369.4	371	Aca/Gca	0	1	1	UPI0000225CC7	0	NA	ENST00000343304		ENSG00000132128	16917		46	0.345		HGNC	p.T371A	rs755207682	LRRC41		SNV							ENST00000343304	protein_coding	getma.org/?cm=var&var=hg19,1,46751418,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15354:SF1,hmmpanther:PTHR15354		T/A		C	neutral	1397/3190		getma.org/?cm=msa&ty=f&p=LRC41_HUMAN&rb=1&re=587&var=T371A	tolerated(0.5)				YES	LRRC41,missense_variant,p.Thr371Ala,ENST00000343304,NM_006369.4;LRRC41,non_coding_transcript_exon_variant,,ENST00000472710,;LRRC41,non_coding_transcript_exon_variant,,ENST00000498402,;LRRC41,upstream_gene_variant,,ENST00000496156,;							MODERATE	1111/2439	T371A	LRC41_HUMAN			Transcript		benign(0.388)	.	ENSP00000343298		CCDS533.1			1	
NFASC	0	LGGM	GRCh37	1	204985478	204985478	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	88	9	.	.	ENST00000339876.6:c.3534G>T	p.Leu1178=	p.L1178=	ENST00000339876	NM_001005388.2	1178	ctG/ctT	0	1	1	UPI0000237208	0		ENST00000339876		ENSG00000163531	29866		97			HGNC	p.L1107L		NFASC		SNV							ENST00000360049	protein_coding			Pfam_domain:PF13882,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41		L		T		3862/10333				D6RHX4_HUMAN			YES	NFASC,synonymous_variant,p.=,ENST00000367172,;NFASC,synonymous_variant,p.=,ENST00000367171,;NFASC,synonymous_variant,p.=,ENST00000367170,;NFASC,synonymous_variant,p.=,ENST00000338515,;NFASC,synonymous_variant,p.=,ENST00000339876,NM_001005388.2;NFASC,synonymous_variant,p.=,ENST00000338586,;NFASC,synonymous_variant,p.=,ENST00000401399,;NFASC,synonymous_variant,p.=,ENST00000539706,NM_001160332.1;NFASC,synonymous_variant,p.=,ENST00000360049,NM_015090.3;NFASC,synonymous_variant,p.=,ENST00000367169,;NFASC,synonymous_variant,p.=,ENST00000404076,;NFASC,synonymous_variant,p.=,ENST00000404907,;NFASC,synonymous_variant,p.=,ENST00000430393,NM_001160331.1;NFASC,synonymous_variant,p.=,ENST00000367173,;NFASC,synonymous_variant,p.=,ENST00000513543,;NFASC,synonymous_variant,p.=,ENST00000447819,;NFASC,synonymous_variant,p.=,ENST00000425360,;NFASC,synonymous_variant,p.=,ENST00000413225,;NFASC,non_coding_transcript_exon_variant,,ENST00000495396,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000503221,;							LOW	3534/3723		NFASC_HUMAN			Transcript			.	ENSP00000344786		CCDS53460.1			1	
MTUS2	0	LGGM	GRCh37	13	30066798	30066798	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	19	9	.	.	ENST00000431530.3:c.3551A>G	p.His1184Arg	p.H1184R	ENST00000431530	NM_001033602.2	1184	cAt/cGt	0	1	1	UPI0000F734AC	0	NA	ENST00000431530		ENSG00000132938	20595		28	2.645		HGNC	p.H153R		MTUS2		SNV							ENST00000380808	protein_coding	getma.org/?cm=var&var=hg19,13,30066798,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		H/R		G	medium	3609/4747		getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1097&re=1323&var=H1174R	deleterious(0)	J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,missense_variant,p.His1184Arg,ENST00000431530,NM_001033602.2;MTUS2,missense_variant,p.His153Arg,ENST00000380808,NM_015233.5;MTUS2,missense_variant,p.His63Arg,ENST00000542829,;MTUS2-AS1,upstream_gene_variant,,ENST00000323380,;MTUS2,upstream_gene_variant,,ENST00000400542,;MTUS2,upstream_gene_variant,,ENST00000467990,;							MODERATE	3551/4140	H1174R				Transcript		possibly_damaging(0.699)	.	ENSP00000392057		CCDS45022.1			1	
TNPO3	0	LGGM	GRCh37	7	128632135	128632135	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	36	10	.	.	ENST00000265388.5:c.1276A>C	p.Thr426Pro	p.T426P	ENST00000265388		426	Act/Cct	0	1	1	UPI0000072FAB	0	NA	ENST00000265388		ENSG00000064419	17103		46	0		HGNC	p.T426P		TNPO3		SNV			1				ENST00000393245	protein_coding	getma.org/?cm=var&var=hg19,7,128632135,T,G&fts=all		hmmpanther:PTHR12363,hmmpanther:PTHR12363:SF5,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		T/P		G	neutral	1420/3245		getma.org/?cm=msa&ty=f&p=TNPO3_HUMAN&rb=250&re=449&var=T426P	tolerated(0.16)	E9PFH4_HUMAN,B3KMX1_HUMAN			YES	TNPO3,missense_variant,p.Thr426Pro,ENST00000393245,NM_012470.3;TNPO3,missense_variant,p.Thr360Pro,ENST00000482320,;TNPO3,missense_variant,p.Thr426Pro,ENST00000471234,NM_001191028.2;TNPO3,missense_variant,p.Thr426Pro,ENST00000265388,;TNPO3,missense_variant,p.Thr426Pro,ENST00000471166,;							MODERATE	1276/2772	T426P	TNPO3_HUMAN			Transcript		possibly_damaging(0.579)	.	ENSP00000265388		CCDS5809.1			1	
ABCG2	0	LGGM	GRCh37	4	89018736	89018736	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	29	10	.	.	ENST00000237612.3:c.1516T>G	p.Phe506Val	p.F506V	ENST00000237612	NM_004827.2	506	Ttc/Gtc	0	1	1	UPI0000001275	0	NA	ENST00000237612		ENSG00000118777	74		39	3.29		HGNC	p.F506V		ABCG2		SNV			1				ENST00000515655	protein_coding	getma.org/?cm=var&var=hg19,4,89018736,A,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR19241:SF198,hmmpanther:PTHR19241,Pfam_domain:PF01061		F/V		C	medium	2062/4479		getma.org/?cm=msa&ty=f&p=ABCG2_HUMAN&rb=375&re=586&var=F506V	deleterious(0)	F8S0F2_HUMAN			YES	ABCG2,missense_variant,p.Phe506Val,ENST00000237612,NM_004827.2;ABCG2,missense_variant,p.Phe506Val,ENST00000515655,NM_001257386.1;							MODERATE	1516/1968	F506V	ABCG2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000237612		CCDS3628.1			1	
RIPK1	0	LGGM	GRCh37	6	3104451	3104470	+	splice_acceptor_variant,coding_sequence_variant,intron_variant	Splice_Site	DEL	AATTATAGAAAGAGTATTCA	AATTATAGAAAGAGTATTCA	-	novel	by Submitter	H104792	H104792N.bam	AATTATAGAAAGAGTATTCA	AATTATAGAAAGAGTATTCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	15	10	.	.	ENST00000259808.4:c.916-6_929del		p.X306_splice	ENST00000259808				0	1	1	UPI000000DC95	0		ENST00000259808		ENSG00000137275	10019		25			HGNC	p.260_263del		RIPK1		deletion							ENST00000541791	protein_coding							-		?-1225/4160							YES	RIPK1,splice_acceptor_variant,,ENST00000259808,;RIPK1,splice_acceptor_variant,,ENST00000380409,NM_003804.3;RIPK1,splice_acceptor_variant,,ENST00000541791,;RIPK1,splice_acceptor_variant,,ENST00000479389,;							HIGH	?-927/2016		RIPK1_HUMAN			Transcript	2		.	ENSP00000259808		CCDS4482.1			1	
BAZ1A	0	LGGM	GRCh37	14	35231373	35231373	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	45	10	.	.	ENST00000360310.1:c.3833T>G	p.Leu1278Arg	p.L1278R	ENST00000360310	NM_013448.2	1278	cTt/cGt	0	1	1	UPI00001584D3	0	NA	ENST00000360310		ENSG00000198604	960		55	0.895		HGNC	p.L1278R		BAZ1A		SNV							ENST00000382422	protein_coding	getma.org/?cm=var&var=hg19,14,35231373,A,C&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145		L/R		C	low	4401/6010		getma.org/?cm=msa&ty=f&p=BAZ1A_HUMAN&rb=1209&re=1430&var=L1278R	tolerated_low_confidence(0.55)	D3DS96_HUMAN			YES	BAZ1A,missense_variant,p.Leu1278Arg,ENST00000360310,NM_013448.2;BAZ1A,missense_variant,p.Leu1246Arg,ENST00000358716,NM_182648.1;BAZ1A,missense_variant,p.Leu1278Arg,ENST00000382422,;BAZ1A,upstream_gene_variant,,ENST00000555331,;BAZ1A,downstream_gene_variant,,ENST00000554865,;BAZ1A,upstream_gene_variant,,ENST00000557739,;							MODERATE	3833/4671	L1278R	BAZ1A_HUMAN			Transcript		benign(0.34)	.	ENSP00000353458		CCDS9651.1			1	
YEATS2	0	LGGM	GRCh37	3	183479341	183479341	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	83	10	.	.	ENST00000305135.5:c.1703G>C	p.Gly568Ala	p.G568A	ENST00000305135	NM_018023.4	568	gGg/gCg	0	1	1	UPI00001BB2B9	0	NA	ENST00000305135		ENSG00000163872	25489		93	0.805		HGNC	p.G568A		YEATS2		SNV							ENST00000305135	protein_coding	getma.org/?cm=var&var=hg19,3,183479341,G,C&fts=all		hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7		G/A		C	low	1898/6506		getma.org/?cm=msa&ty=f&p=YETS2_HUMAN&rb=515&re=714&var=G568A	tolerated_low_confidence(0.07)				YES	YEATS2,missense_variant,p.Gly568Ala,ENST00000305135,NM_018023.4;							MODERATE	1703/4269	G568A	YETS2_HUMAN			Transcript		possibly_damaging(0.504)	.	ENSP00000306983		CCDS43175.1			1	
TP53	0	LGGM	GRCh37	17	7578212	7578212	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	6	22	.	.	ENST00000269305.4:c.637C>T	p.Arg213Ter	p.R213*	ENST00000269305	NM_001126112.2	213	Cga/Tga	0	1	1	UPI000002ED67	0	NA	ENST00000269305	pathogenic	ENSG00000141510	11998		28	0		HGNC	p.R213X	rs397516436,TP53_g.12706C>T,COSM10654,COSM99618,COSM99615,COSM99616,COSM3378350,COSM1638393,COSM99617	TP53		SNV			1			1,0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578212,G,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/*		A	NA	827/2579		NA		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			YES	TP53,stop_gained,p.Arg213Ter,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,stop_gained,p.Arg213Ter,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,stop_gained,p.Arg213Ter,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,stop_gained,p.Arg213Ter,ENST00000445888,;TP53,stop_gained,p.Arg213Ter,ENST00000359597,;TP53,stop_gained,p.Arg213Ter,ENST00000413465,;TP53,stop_gained,p.Arg81Ter,ENST00000509690,;TP53,stop_gained,p.Arg120Ter,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,;					0,0,1,1,1,1,1,1,1		HIGH	637/1182	R213*	P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
TUBB2B	0	LGGM	GRCh37	6	3225031	3225031	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	39	11	.	.	ENST00000259818.7:c.1292A>G	p.Asp431Gly	p.D431G	ENST00000259818	NM_178012.4	431	gAc/gGc	0	1	1	UPI0000024E6E	0	getma.org/pdb.php?prot=TBB2B_HUMAN&from=384&to=445&var=D431G	ENST00000259818		ENSG00000137285	30829		50	2.31		HGNC	p.D431G		TUBB2B		SNV			1				ENST00000259818	protein_coding	getma.org/?cm=var&var=hg19,6,3225031,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF56		D/G		C	medium	1484/2020		getma.org/?cm=msa&ty=f&p=TBB2B_HUMAN&rb=384&re=445&var=D431G	tolerated_low_confidence(0.09)	O43209_HUMAN,A1L195_HUMAN			YES	TUBB2B,missense_variant,p.Asp431Gly,ENST00000259818,NM_178012.4;TUBB2B,non_coding_transcript_exon_variant,,ENST00000473006,;							MODERATE	1292/1338	D431G	TBB2B_HUMAN			Transcript		unknown(0)	.	ENSP00000259818		CCDS4485.1			1	
FAM196A	0	LGGM	GRCh37	10	128974300	128974300	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	19	11	.	.	ENST00000522781.1:c.360G>T	p.Leu120=	p.L120=	ENST00000522781	NM_001039762.2	120	ctG/ctT	0	1	1	UPI00001C0E37	0		ENST00000522781		ENSG00000188916	33859		30			HGNC	p.L120L		FAM196A		SNV							ENST00000522781	protein_coding			Pfam_domain:PF15265		L		A		916/4403							YES	FAM196A,synonymous_variant,p.=,ENST00000522781,NM_001039762.2;FAM196A,synonymous_variant,p.=,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.3;							LOW	360/1440		F196A_HUMAN			Transcript			.	ENSP00000429763		CCDS31312.1			1	
DST	0	LGGM	GRCh37	6	56434753	56434753	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	27	11	.	.	ENST00000244364.6:c.5910A>G	p.Lys1970=	p.K1970=	ENST00000244364	NM_015548.4	1970	aaA/aaG	0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		38			HGNC	p.K1970K		DST		SNV			1				ENST00000244364	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Superfamily_domains:SSF46966		K		C		6118/16742				Q86T18_HUMAN			YES	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,downstream_gene_variant,,ENST00000518398,;							LOW	5910/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
PTPRK	0	LGGM	GRCh37	6	128304076	128304076	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	12	11	.	.	ENST00000368213.5:c.3455G>C	p.Gly1152Ala	p.G1152A	ENST00000368213	NM_001135648.1	1152	gGa/gCa	0	1		UPI0000148ED1	0	getma.org/pdb.php?prot=PTPRK_HUMAN&from=1141&to=1199&var=G1145A	ENST00000368215		ENSG00000152894	9674		23	2.62		HGNC	p.G1152A		PTPRK		SNV							ENST00000368213	protein_coding	getma.org/?cm=var&var=hg19,6,128304076,C,G&fts=all		Superfamily_domains:SSF52799,Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF209		G/A		G	medium	3434/4651		getma.org/?cm=msa&ty=f&p=PTPRK_HUMAN&rb=1141&re=1199&var=G1145A	deleterious(0)					PTPRK,missense_variant,p.Gly1163Ala,ENST00000368227,;PTPRK,missense_variant,p.Gly1146Ala,ENST00000368226,NM_002844.3;PTPRK,missense_variant,p.Gly1152Ala,ENST00000368213,NM_001135648.1;PTPRK,missense_variant,p.Gly1168Ala,ENST00000532331,;PTPRK,missense_variant,p.Gly1164Ala,ENST00000368210,;PTPRK,missense_variant,p.Gly1178Ala,ENST00000368207,;PTPRK,missense_variant,p.Gly1145Ala,ENST00000368215,;PTPRK,downstream_gene_variant,,ENST00000415046,;							MODERATE	3434/4320	G1145A	PTPRK_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000357198					1	
EPS15	0	LGGM	GRCh37	1	51873857	51873857	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	61	11	.	.	ENST00000371733.3:c.1423T>C	p.Leu475=	p.L475=	ENST00000371733	NM_001981.2	475	Ttg/Ctg	0	1	1	UPI0000161B29	0		ENST00000371733		ENSG00000085832	3419		72			HGNC	p.L152L	rs562194298	EPS15		SNV				9.61E-05			ENST00000396122	protein_coding		G:0.0008	Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11216,hmmpanther:PTHR11216:SF54		L		G		1520/5225	1.50E-05				G:0	G:0	YES	EPS15,synonymous_variant,p.=,ENST00000371733,NM_001981.2;EPS15,synonymous_variant,p.=,ENST00000396122,NM_001159969.1;EPS15,intron_variant,,ENST00000371730,;EPS15,non_coding_transcript_exon_variant,,ENST00000493793,;EPS15,upstream_gene_variant,,ENST00000486505,;		G:0.0002					LOW	1423/2691		EPS15_HUMAN		G:0	Transcript			.	ENSP00000360798	1.65E-05	CCDS557.1		G:0	1	
TPM2	0	LGGM	GRCh37	9	35689229	35689229	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	50	11	.	.	ENST00000378292.3:c.154G>C	p.Gly52Arg	p.G52R	ENST00000378292	NM_213674.1	52	Ggg/Cgg	0	1		UPI0000137258	0	getma.org/pdb.php?prot=TPM2_HUMAN&from=48&to=284&var=G52R	ENST00000360958		ENSG00000198467	12011		61	2.48		HGNC	p.G52R		TPM2		SNV			1				ENST00000378300	protein_coding	getma.org/?cm=var&var=hg19,9,35689229,C,G&fts=all		Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00261,hmmpanther:PTHR19269,hmmpanther:PTHR19269:SF42,Superfamily_domains:SSF57997		G/R		G	medium	259/1189		getma.org/?cm=msa&ty=f&p=TPM2_HUMAN&rb=48&re=284&var=G52R	tolerated(0.1)					TPM2,missense_variant,p.Gly52Arg,ENST00000378292,NM_213674.1;TPM2,missense_variant,p.Gly52Arg,ENST00000378300,;TPM2,missense_variant,p.Gly52Arg,ENST00000360958,NM_003289.3;TPM2,missense_variant,p.Gly52Arg,ENST00000329305,;TPM2,upstream_gene_variant,,ENST00000607559,;TPM2,non_coding_transcript_exon_variant,,ENST00000471212,;TPM2,intron_variant,,ENST00000604975,;TPM2,upstream_gene_variant,,ENST00000486018,;							MODERATE	154/855	G52R	TPM2_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000354219		CCDS6587.1			1	
SCAF11	0	LGGM	GRCh37	12	46315832	46315832	+	stop_lost	Nonstop_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	43	11	.	.	ENST00000369367.3:c.4391G>T	p.Ter1464LeuextTer28	p.*1464Lext*28	ENST00000369367	NM_004719.2	1464	tGa/tTa	0	1	1	UPI0000D481F2	0		ENST00000369367		ENSG00000139218	10784		54			HGNC	p.X1272L		SCAF11		SNV							ENST00000549162	protein_coding					*/L		A		4625/5265				F8VXG7_HUMAN			YES	SCAF11,stop_lost,p.Ter1149LeuextTer28,ENST00000465950,;SCAF11,stop_lost,p.Ter1464LeuextTer28,ENST00000369367,NM_004719.2;SCAF11,stop_lost,p.Ter1464LeuextTer?,ENST00000419565,;SCAF11,stop_lost,p.Ter1272LeuextTer?,ENST00000549162,;SCAF11,intron_variant,,ENST00000550629,;SCAF11,intron_variant,,ENST00000547654,;SCAF11,downstream_gene_variant,,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000547950,;SCAF11,downstream_gene_variant,,ENST00000550893,;							HIGH	4391/4392		SCAFB_HUMAN			Transcript			.	ENSP00000358374		CCDS8748.2			1	
PAX6	0	LGGM	GRCh37	11	31822291	31822291	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	34	12	.	.	ENST00000419022.1:c.513C>T	p.Gly171=	p.G171=	ENST00000419022	NM_001258462.1	171	ggC/ggT	0	1		UPI0000000CC0	0		ENST00000241001		ENSG00000007372	8620		46			HGNC	p.G171G		PAX6		SNV			1				ENST00000379115	protein_coding			hmmpanther:PTHR24329:SF294,hmmpanther:PTHR24329		G		A		812/1631				Q6VMP0_HUMAN,Q66SS1_HUMAN,E9PKM0_HUMAN,E5LBD7_HUMAN,D3DQZ8_HUMAN,B1B1I8_HUMAN				PAX6,synonymous_variant,p.=,ENST00000419022,NM_001258462.1,NM_001127612.1,NM_001258463.1;PAX6,synonymous_variant,p.=,ENST00000379129,;PAX6,synonymous_variant,p.=,ENST00000379107,;PAX6,synonymous_variant,p.=,ENST00000379132,;PAX6,synonymous_variant,p.=,ENST00000379123,NM_000280.4,NM_001258464.1;PAX6,synonymous_variant,p.=,ENST00000379109,;PAX6,synonymous_variant,p.=,ENST00000379115,NM_001604.5;PAX6,synonymous_variant,p.=,ENST00000241001,;PAX6,synonymous_variant,p.=,ENST00000379111,NM_001258465.1;PAX6,synonymous_variant,p.=,ENST00000455099,;PAX6,downstream_gene_variant,,ENST00000524853,;PAX6,downstream_gene_variant,,ENST00000423822,;PAX6,downstream_gene_variant,,ENST00000438681,;PAX6,non_coding_transcript_exon_variant,,ENST00000471303,;PAX6,non_coding_transcript_exon_variant,,ENST00000531910,;PAX6,non_coding_transcript_exon_variant,,ENST00000481563,;PAX6,downstream_gene_variant,,ENST00000533156,;PAX6,upstream_gene_variant,,ENST00000530373,;PAX6,downstream_gene_variant,,ENST00000530714,;PAX6,downstream_gene_variant,,ENST00000534353,;PAX6,non_coding_transcript_exon_variant,,ENST00000533333,;PAX6,non_coding_transcript_exon_variant,,ENST00000470027,;PAX6,non_coding_transcript_exon_variant,,ENST00000494377,;PAX6,intron_variant,,ENST00000464174,;PAX6,downstream_gene_variant,,ENST00000534390,;							LOW	471/1269		PAX6_HUMAN			Transcript			.	ENSP00000241001		CCDS31451.1			1	
AOX1	0	LGGM	GRCh37	2	201535355	201535355	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	24	12	.	.	ENST00000374700.2:c.3970C>A	p.Pro1324Thr	p.P1324T	ENST00000374700	NM_001159.3	1324	Ccg/Acg	0	1	1	UPI0000071863	0	getma.org/pdb.php?prot=ADO_HUMAN&from=1246&to=1338&var=P1324T	ENST00000374700		ENSG00000138356	553		36	2.12		HGNC	p.P188T		AOX1		SNV							ENST00000260930	protein_coding	getma.org/?cm=var&var=hg19,2,201535355,C,A&fts=all		hmmpanther:PTHR11908,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127		P/T		A	medium	4211/5070		getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=1246&re=1338&var=P1324T	deleterious(0.03)	C9J244_HUMAN,B4DNI5_HUMAN			YES	AOX1,missense_variant,p.Pro1324Thr,ENST00000374700,NM_001159.3;AOX1,missense_variant,p.Pro188Thr,ENST00000260930,;AOX1,intron_variant,,ENST00000439380,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;							MODERATE	3970/4017	P1324T	ADO_HUMAN			Transcript		benign(0.178)	.	ENSP00000363832		CCDS33360.1			1	
FLT3	0	LGGM	GRCh37	13	28622451	28622451	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	57	12	.	.	ENST00000241453.7:c.1166C>G	p.Ser389Ter	p.S389*	ENST00000241453	NM_004119.2	389	tCa/tGa	0	1	1	UPI00001FC90B	0	NA	ENST00000241453		ENSG00000122025	3765		69	0		HGNC	p.S389X		FLT3		SNV			1				ENST00000241453	protein_coding	getma.org/?cm=var&var=hg19,13,28622451,G,C&fts=all		PIRSF_domain:PIRSF000615,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF278		S/*		C	NA	1248/3842		NA					YES	FLT3,stop_gained,p.Ser389Ter,ENST00000380982,;FLT3,stop_gained,p.Ser389Ter,ENST00000241453,NM_004119.2;FLT3,stop_gained,p.Ser389Ter,ENST00000537084,;FLT3,stop_gained,p.Ser389Ter,ENST00000380987,;							HIGH	1166/2982	S389*	FLT3_HUMAN			Transcript			.	ENSP00000241453		CCDS31953.1			1	
AOX1	0	LGGM	GRCh37	2	201535356	201535356	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	24	12	.	.	ENST00000374700.2:c.3971C>A	p.Pro1324Gln	p.P1324Q	ENST00000374700	NM_001159.3	1324	cCg/cAg	0	1	1	UPI0000071863	0	getma.org/pdb.php?prot=ADO_HUMAN&from=1246&to=1338&var=P1324Q	ENST00000374700		ENSG00000138356	553		36	2.32		HGNC	p.P188Q		AOX1		SNV							ENST00000260930	protein_coding	getma.org/?cm=var&var=hg19,2,201535356,C,A&fts=all		hmmpanther:PTHR11908,TIGRFAM_domain:TIGR02969,PIRSF_domain:PIRSF000127		P/Q		A	medium	4212/5070		getma.org/?cm=msa&ty=f&p=ADO_HUMAN&rb=1246&re=1338&var=P1324Q	deleterious(0.01)	C9J244_HUMAN,B4DNI5_HUMAN			YES	AOX1,missense_variant,p.Pro1324Gln,ENST00000374700,NM_001159.3;AOX1,missense_variant,p.Pro188Gln,ENST00000260930,;AOX1,intron_variant,,ENST00000439380,;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,;							MODERATE	3971/4017	P1324Q	ADO_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000363832		CCDS33360.1			1	
MYO16	0	LGGM	GRCh37	13	109365011	109365011	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	25	13	.	.	ENST00000356711.2:c.229C>T	p.Leu77Phe	p.L77F	ENST00000356711	NM_015011.1	77	Ctt/Ttt	0	1	1	UPI0000160FF2	0	getma.org/pdb.php?prot=MYO16_HUMAN&from=64&to=188&var=L77F	ENST00000356711		ENSG00000041515	29822		38	0.975		HGNC	p.L77F		MYO16		SNV							ENST00000251041	protein_coding	getma.org/?cm=var&var=hg19,13,109365011,C,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,Superfamily_domains:SSF48403		L/F		T	low	355/6874		getma.org/?cm=msa&ty=f&p=MYO16_HUMAN&rb=64&re=188&var=L77F	deleterious(0)				YES	MYO16,missense_variant,p.Leu77Phe,ENST00000356711,NM_015011.1;MYO16,missense_variant,p.Leu77Phe,ENST00000357550,NM_001198950.1;MYO16,missense_variant,p.Leu77Phe,ENST00000251041,;							MODERATE	229/5577	L77F	MYO16_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349145		CCDS32008.1			1	
TMEM131	0	LGGM	GRCh37	2	98421631	98421631	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	57	13	.	.	ENST00000186436.5:c.2322A>T	p.Glu774Asp	p.E774D	ENST00000186436	NM_015348.1	774	gaA/gaT	0	1	1	UPI00006C0498	0	NA	ENST00000186436		ENSG00000075568	30366		70	1.78		HGNC	p.E774D		TMEM131		SNV							ENST00000186436	protein_coding	getma.org/?cm=var&var=hg19,2,98421631,T,A&fts=all		hmmpanther:PTHR22050,hmmpanther:PTHR22050:SF1		E/D		A	low	2551/6640		getma.org/?cm=msa&ty=f&p=TM131_HUMAN&rb=709&re=908&var=E774D	tolerated(0.1)	C9J6W0_HUMAN			YES	TMEM131,missense_variant,p.Glu774Asp,ENST00000186436,NM_015348.1;							MODERATE	2322/5652	E774D	TM131_HUMAN			Transcript		benign(0.005)	.	ENSP00000186436		CCDS46368.1			1	
TECTA	0	LGGM	GRCh37	11	120989240	120989240	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	48	13	.	.	ENST00000392793.1:c.1016A>C	p.His339Pro	p.H339P	ENST00000392793		339	cAc/cCc	0	1		UPI000045659D	0	NA	ENST00000264037		ENSG00000109927	11720		61	2.52		HGNC	p.H339P		TECTA		SNV			1				ENST00000392793	protein_coding	getma.org/?cm=var&var=hg19,11,120989240,A,C&fts=all		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216		H/P		C	medium	1016/6468		getma.org/?cm=msa&ty=f&p=TECTA_HUMAN&rb=322&re=478&var=H339P	deleterious(0.01)					TECTA,missense_variant,p.His339Pro,ENST00000392793,;TECTA,missense_variant,p.His339Pro,ENST00000264037,NM_005422.2;							MODERATE	1016/6468	H339P	TECTA_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000264037		CCDS8434.1			1	
KCNQ5	0	LGGM	GRCh37	6	73879567	73879567	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	17	13	.	.	ENST00000342056.2:c.1624C>T	p.Arg542Ter	p.R542*	ENST00000342056	NM_001160132.1	542	Cga/Tga	0	1		UPI0000167EE4	0	NA	ENST00000370398		ENSG00000185760	6299		30	0		HGNC	p.R533X	COSM1081493,COSM3629590	KCNQ5		SNV						1,1	ENST00000402622	protein_coding	getma.org/?cm=var&var=hg19,6,73879567,C,T&fts=all		Pfam_domain:PF03520		R/*		T	NA	1676/6345		NA						KCNQ5,stop_gained,p.Arg542Ter,ENST00000342056,NM_001160132.1,NM_001160133.1;KCNQ5,stop_gained,p.Arg523Ter,ENST00000355194,;KCNQ5,stop_gained,p.Arg523Ter,ENST00000370398,NM_019842.3;KCNQ5,stop_gained,p.Arg533Ter,ENST00000402622,;KCNQ5,stop_gained,p.Arg524Ter,ENST00000355635,;KCNQ5,stop_gained,p.Arg514Ter,ENST00000403813,NM_001160130.1;KCNQ5,intron_variant,,ENST00000414165,NM_001160134.1;					1,1		HIGH	1567/2799	R523*	KCNQ5_HUMAN			Transcript			.	ENSP00000359425		CCDS4976.1			1	
FAM196A	0	LGGM	GRCh37	10	128974153	128974153	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	22	13	.	.	ENST00000522781.1:c.507G>C	p.Lys169Asn	p.K169N	ENST00000522781	NM_001039762.2	169	aaG/aaC	0	1	1	UPI00001C0E37	0	NA	ENST00000522781		ENSG00000188916	33859		35	2.015		HGNC	p.K169N	COSM123005	FAM196A		SNV						1	ENST00000522781	protein_coding	getma.org/?cm=var&var=hg19,10,128974153,C,G&fts=all		Pfam_domain:PF15265		K/N		G	medium	1063/4403		getma.org/?cm=msa&ty=f&p=F196A_HUMAN&rb=124&re=323&var=K169N	deleterious(0.03)				YES	FAM196A,missense_variant,p.Lys169Asn,ENST00000522781,NM_001039762.2;FAM196A,missense_variant,p.Lys169Asn,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.3;					1		MODERATE	507/1440	K169N	F196A_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000429763		CCDS31312.1			1	
C10orf90	0	LGGM	GRCh37	10	128153400	128153400	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	50	14	.	.	ENST00000284694.7:c.1399G>A	p.Glu467Lys	p.E467K	ENST00000284694	NM_001004298.2	467	Gag/Aag	0	1	1	UPI00001D808F	0	NA	ENST00000284694		ENSG00000154493	26563		64	1.955		HGNC	p.E467K		C10orf90		SNV							ENST00000284694	protein_coding	getma.org/?cm=var&var=hg19,10,128153400,C,T&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF10		E/K		T	medium	1520/3076		getma.org/?cm=msa&ty=f&p=CJ090_HUMAN&rb=1&re=697&var=E467K	tolerated(0.53)	S4R3N7_HUMAN,Q5T025_HUMAN			YES	C10orf90,missense_variant,p.Glu467Lys,ENST00000284694,NM_001004298.2;C10orf90,missense_variant,p.Glu420Lys,ENST00000356858,;C10orf90,missense_variant,p.Glu564Lys,ENST00000544758,;C10orf90,missense_variant,p.Glu467Lys,ENST00000432642,;C10orf90,intron_variant,,ENST00000454341,;C10orf90,intron_variant,,ENST00000424927,;C10orf90,upstream_gene_variant,,ENST00000480379,;							MODERATE	1399/2100	E467K	CJ090_HUMAN			Transcript		benign(0.006)	.	ENSP00000284694		CCDS31310.1			1	
RFC3	0	LGGM	GRCh37	13	34410385	34410385	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	67	14	.	.	ENST00000380071.3:c.1024C>G	p.Leu342Val	p.L342V	ENST00000380071	NM_002915.3	342	Ctt/Gtt	0	1	1	UPI0000125168	0	getma.org/pdb.php?prot=RFC3_HUMAN&from=340&to=356&var=L342V	ENST00000380071		ENSG00000133119	9971		81	-0.185		HGNC	p.L342V		RFC3		SNV							ENST00000380071	protein_coding	getma.org/?cm=var&var=hg19,13,34410385,C,G&fts=all		hmmpanther:PTHR11669,hmmpanther:PTHR11669:SF1,Gene3D:1.20.272.10,Superfamily_domains:SSF48019		L/V		G	neutral	1154/2402		getma.org/?cm=msa&ty=f&p=RFC3_HUMAN&rb=310&re=356&var=L342V	tolerated(0.31)				YES	RFC3,missense_variant,p.Leu342Val,ENST00000380071,NM_002915.3;RFC3,intron_variant,,ENST00000434425,NM_181558.2;							MODERATE	1024/1071	L342V	RFC3_HUMAN			Transcript		benign(0.002)	.	ENSP00000369411		CCDS9352.1			1	
ZNF646	0	LGGM	GRCh37	16	31088167	31088167	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	47	14	.	.	ENST00000300850.5:c.522G>C	p.Leu174Phe	p.L174F	ENST00000300850	NM_014699.3	174	ttG/ttC	0	1		UPI00001395B0	0	NA	ENST00000394979		ENSG00000167395	29004		61	0.55		HGNC	p.L174F		ZNF646		SNV							ENST00000394979	protein_coding	getma.org/?cm=var&var=hg19,16,31088167,G,C&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182		L/F		C	neutral	945/8118		getma.org/?cm=msa&ty=f&p=ZN646_HUMAN&rb=98&re=238&var=L174F	tolerated(0.08)	H3BSD0_HUMAN,C9J3L0_HUMAN				ZNF646,missense_variant,p.Leu174Phe,ENST00000394979,;ZNF646,missense_variant,p.Leu174Phe,ENST00000300850,NM_014699.3;ZNF646,missense_variant,p.Leu174Phe,ENST00000428260,;ZNF668,upstream_gene_variant,,ENST00000538906,NM_001172668.1;ZNF668,upstream_gene_variant,,ENST00000300849,NM_024706.4;ZNF668,upstream_gene_variant,,ENST00000394983,;ZNF646,downstream_gene_variant,,ENST00000564189,;ZNF668,upstream_gene_variant,,ENST00000414399,;ZNF668,upstream_gene_variant,,ENST00000417935,;ZNF668,upstream_gene_variant,,ENST00000564456,;							MODERATE	522/5490	L174F	ZN646_HUMAN			Transcript		benign(0.036)	.	ENSP00000378429					1	
NLRP6	0	LGGM	GRCh37	11	281031	281031	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	23	14	.	.	ENST00000312165.5:c.1297G>C	p.Ala433Pro	p.A433P	ENST00000312165	NM_001276700.1	433	Gcc/Ccc	0	1	1	UPI00001AEFE1	0	NA	ENST00000312165		ENSG00000174885	22944		37	0.49		HGNC	p.A433P		NLRP6		SNV							ENST00000312165	protein_coding	getma.org/?cm=var&var=hg19,11,281031,G,C&fts=all		hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF3,PROSITE_profiles:PS50837		A/P		C	neutral	1297/2679		getma.org/?cm=msa&ty=f&p=NALP6_HUMAN&rb=196&re=513&var=A433P	tolerated(0.14)				YES	NLRP6,missense_variant,p.Ala433Pro,ENST00000534750,;NLRP6,missense_variant,p.Ala433Pro,ENST00000312165,NM_001276700.1,NM_138329.2;NLRP6,downstream_gene_variant,,ENST00000527946,;							MODERATE	1297/2679	A433P	NALP6_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000309767		CCDS7693.1			1	
HSCB	0	LGGM	GRCh37	22	29139889	29139889	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	69	14	.	.	ENST00000216027.3:c.256G>C	p.Asp86His	p.D86H	ENST00000216027	NM_172002.3	86	Gat/Cat	0	1	1	UPI000013C6B6	0	getma.org/pdb.php?prot=HSC20_HUMAN&from=72&to=141&var=D86H	ENST00000216027		ENSG00000100209	28913		83	4.005		HGNC	p.D86H		HSCB		SNV							ENST00000398941	protein_coding	getma.org/?cm=var&var=hg19,22,29139889,G,C&fts=all		HAMAP:MF_00682,hmmpanther:PTHR14021,hmmpanther:PTHR14021:SF11,TIGRFAM_domain:TIGR00714,Pfam_domain:PF00226,Gene3D:1.10.287.110,Superfamily_domains:SSF46565		D/H		C	high	321/1114		getma.org/?cm=msa&ty=f&p=HSC20_HUMAN&rb=72&re=141&var=D86H	deleterious(0)				YES	HSCB,missense_variant,p.Asp86His,ENST00000216027,NM_172002.3;HSCB,missense_variant,p.Asp86His,ENST00000398941,;CHEK2,upstream_gene_variant,,ENST00000544772,NM_001257387.1;CHEK2,upstream_gene_variant,,ENST00000382580,NM_001005735.1;CHEK2,upstream_gene_variant,,ENST00000405598,;CHEK2,upstream_gene_variant,,ENST00000328354,NM_007194.3;CHEK2,upstream_gene_variant,,ENST00000382566,;CHEK2,upstream_gene_variant,,ENST00000348295,NM_145862.2;CHEK2,upstream_gene_variant,,ENST00000382578,;CHEK2,upstream_gene_variant,,ENST00000439200,;CHEK2,upstream_gene_variant,,ENST00000425190,;CHEK2,upstream_gene_variant,,ENST00000382565,;CHEK2,upstream_gene_variant,,ENST00000398017,;HSCB,non_coding_transcript_exon_variant,,ENST00000495977,;HSCB,non_coding_transcript_exon_variant,,ENST00000485599,;HSCB,non_coding_transcript_exon_variant,,ENST00000483861,;HSCB,missense_variant,p.Asp86His,ENST00000450178,;HSCB,missense_variant,p.Asp86His,ENST00000420442,;CHEK2,upstream_gene_variant,,ENST00000416671,;CHEK2,upstream_gene_variant,,ENST00000433028,;							MODERATE	256/708	D86H	HSC20_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000216027		CCDS13845.1			1	
MSL3	0	LGGM	GRCh37	X	11783586	11783586	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	49	14	.	.	ENST00000312196.4:c.909G>C	p.Arg303Ser	p.R303S	ENST00000312196	NM_078629.3	303	agG/agC	0	1	1	UPI000006E6B7	0	NA	ENST00000312196		ENSG00000005302	7370		63	1.67		HGNC	p.R137S		MSL3		SNV							ENST00000380693	protein_coding	getma.org/?cm=var&var=hg19,X,11783586,G,C&fts=all		Pfam_domain:PF05712,hmmpanther:PTHR10880:SF26,hmmpanther:PTHR10880,PROSITE_profiles:PS51640		R/S		C	low	1014/2343		getma.org/?cm=msa&ty=f&p=MS3L1_HUMAN&rb=136&re=504&var=R303S	tolerated(0.16)	F8WC61_HUMAN,B4E2T7_HUMAN,A6NLU8_HUMAN			YES	MSL3,missense_variant,p.Arg303Ser,ENST00000337339,NM_078628.1;MSL3,missense_variant,p.Arg137Ser,ENST00000380693,NM_006800.3;MSL3,missense_variant,p.Arg303Ser,ENST00000312196,NM_078629.3;MSL3,missense_variant,p.Arg291Ser,ENST00000398527,NM_001193270.1;MSL3,missense_variant,p.Arg154Ser,ENST00000361672,NM_001282174.1;MSL3,missense_variant,p.Arg137Ser,ENST00000380692,;MSL3,downstream_gene_variant,,ENST00000421368,;MSL3,downstream_gene_variant,,ENST00000476743,;MSL3,upstream_gene_variant,,ENST00000467141,;MSL3,downstream_gene_variant,,ENST00000483645,;MSL3,downstream_gene_variant,,ENST00000473806,;MSL3,splice_region_variant,,ENST00000468149,;MSL3,intron_variant,,ENST00000380691,;MSL3,downstream_gene_variant,,ENST00000494268,;MSL3,downstream_gene_variant,,ENST00000482871,;MSL3,downstream_gene_variant,,ENST00000478462,;MSL3,upstream_gene_variant,,ENST00000473380,;							MODERATE	909/1566	R303S	MS3L1_HUMAN			Transcript		benign(0.248)	.	ENSP00000312244		CCDS14147.1			1	
ARHGAP17	0	LGGM	GRCh37	16	24942564	24942564	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	29	15	.	.	ENST00000289968.6:c.2056C>G	p.Pro686Ala	p.P686A	ENST00000289968	NM_001006634.1	686	Cca/Gca	0	1	1	UPI00000433FD	0	NA	ENST00000289968		ENSG00000140750	18239		44	0.6		HGNC	p.P686A		ARHGAP17		SNV							ENST00000289968	protein_coding	getma.org/?cm=var&var=hg19,16,24942564,G,C&fts=all		hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF3,Low_complexity_(Seg):seg		P/A		C	neutral	2126/3461		getma.org/?cm=msa&ty=f&p=RHG17_HUMAN&rb=481&re=879&var=P686A	tolerated_low_confidence(0.49)	I3L4P6_HUMAN			YES	ARHGAP17,missense_variant,p.Pro686Ala,ENST00000289968,NM_001006634.1;ARHGAP17,missense_variant,p.Pro608Ala,ENST00000303665,NM_018054.4;ARHGAP17,missense_variant,p.Pro54Ala,ENST00000573765,;ARHGAP17,3_prime_UTR_variant,,ENST00000441763,;ARHGAP17,upstream_gene_variant,,ENST00000571843,;ARHGAP17,upstream_gene_variant,,ENST00000571406,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000572314,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000570320,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575283,;							MODERATE	2056/2646	P686A	RHG17_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000289968		CCDS32409.1			1	
ARHGEF7	0	LGGM	GRCh37	13	111862333	111862333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	67	15	.	.	ENST00000375741.2:c.515G>T	p.Gly172Val	p.G172V	ENST00000375741	NM_145735.2	172	gGc/gTc	0	1	1	UPI00002132CC	0	NA	ENST00000375741		ENSG00000102606	15607		82	0		HGNC	p.G122V		ARHGEF7		SNV							ENST00000375739	protein_coding	getma.org/?cm=var&var=hg19,13,111862333,G,T&fts=all		hmmpanther:PTHR22826:SF94,hmmpanther:PTHR22826		G/V		T	neutral	765/5525		getma.org/?cm=msa&ty=f&p=ARHG7_HUMAN&rb=133&re=187&var=G172V	tolerated_low_confidence(0.14)	Q5ZEZ3_HUMAN,E7EUY6_HUMAN,C9JDI6_HUMAN,C9JAD7_HUMAN,B1ANY6_HUMAN			YES	ARHGEF7,missense_variant,p.Gly172Val,ENST00000375741,NM_145735.2,NM_001113511.1;ARHGEF7,missense_variant,p.Gly122Val,ENST00000375739,NM_001113512.1;ARHGEF7,missense_variant,p.Gly151Val,ENST00000317133,;ARHGEF7,missense_variant,p.Gly69Val,ENST00000375737,;ARHGEF7,missense_variant,p.Gly69Val,ENST00000426768,;ARHGEF7,5_prime_UTR_variant,,ENST00000218789,;ARHGEF7,5_prime_UTR_variant,,ENST00000375736,NM_003899.3;ARHGEF7,5_prime_UTR_variant,,ENST00000375723,;ARHGEF7,5_prime_UTR_variant,,ENST00000426073,NM_001113513.1;ARHGEF7,5_prime_UTR_variant,,ENST00000466143,;ARHGEF7,5_prime_UTR_variant,,ENST00000467053,;ARHGEF7,5_prime_UTR_variant,,ENST00000449979,;ARHGEF7,5_prime_UTR_variant,,ENST00000491775,;ARHGEF7,intron_variant,,ENST00000370623,;ARHGEF7,intron_variant,,ENST00000544132,;ARHGEF7,intron_variant,,ENST00000469877,;							MODERATE	515/2412	G172V	ARHG7_HUMAN			Transcript		benign(0.03)	.	ENSP00000364893		CCDS45068.1			1	
ROR1	0	LGGM	GRCh37	1	64624694	64624694	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	40	15	.	.	ENST00000371079.1:c.1205T>G	p.Met402Arg	p.M402R	ENST00000371079	NM_005012.3	402	aTg/aGg	0	1	1	UPI00001AF82C	0	NA	ENST00000371079		ENSG00000185483	10256		55	0.805		HGNC	p.M402R		ROR1		SNV							ENST00000371079	protein_coding	getma.org/?cm=var&var=hg19,1,64624694,T,G&fts=all		PIRSF_domain:PIRSF000624,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132		M/R		G	low	1580/5832		getma.org/?cm=msa&ty=f&p=ROR1_HUMAN&rb=392&re=472&var=M402R	tolerated(0.07)				YES	ROR1,missense_variant,p.Met402Arg,ENST00000371079,NM_005012.3;ROR1,5_prime_UTR_variant,,ENST00000545203,;RP11-24J23.2,intron_variant,,ENST00000424995,;							MODERATE	1205/2814	M402R	ROR1_HUMAN			Transcript		benign(0.197)	.	ENSP00000360120		CCDS626.1			1	
TRPV3	0	LGGM	GRCh37	17	3427525	3427525	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	73	15	.	.	ENST00000301365.4:c.1710G>C	p.Gln570His	p.Q570H	ENST00000301365		570	caG/caC	0	1		UPI000006FF4A	0	NA	ENST00000576742		ENSG00000167723	18084	8.64E-05	88	2.14		HGNC	p.Q570H	rs774375006	TRPV3		SNV			1				ENST00000301365	protein_coding	getma.org/?cm=var&var=hg19,17,3427525,C,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF6,Transmembrane_helices:TMhelix		Q/H		G	medium	2032/2766		getma.org/?cm=msa&ty=f&p=TRPV3_HUMAN&rb=488&re=677&var=Q570H	deleterious(0)	B3KXP7_HUMAN,B3KXH2_HUMAN				TRPV3,missense_variant,p.Gln570His,ENST00000301365,;TRPV3,missense_variant,p.Gln570His,ENST00000572519,;TRPV3,missense_variant,p.Gln570His,ENST00000576742,NM_145068.3,NM_001258205.1;TRPV3,missense_variant,p.Val325Leu,ENST00000381913,;TRPV3,3_prime_UTR_variant,,ENST00000573539,;TRPV3,3_prime_UTR_variant,,ENST00000571139,;TRPV3,intron_variant,,ENST00000577016,;TRPV3,downstream_gene_variant,,ENST00000575865,;TRPV3,downstream_gene_variant,,ENST00000571005,;							MODERATE	1710/2373	Q570H	TRPV3_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000461518	8.24E-06	CCDS11029.1			1	
ZNF623	0	LGGM	GRCh37	8	144733530	144733530	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	62	16	.	.	ENST00000501748.2:c.1488T>G	p.Phe496Leu	p.F496L	ENST00000501748	NM_014789.3	496	ttT/ttG	0	1	1	UPI00001AF7CB	0	getma.org/pdb.php?prot=ZN623_HUMAN&from=473&to=498&var=F496L	ENST00000501748		ENSG00000183309	29084		78	2.89		HGNC	p.F496L		ZNF623		SNV							ENST00000532796	protein_coding	getma.org/?cm=var&var=hg19,8,144733530,T,G&fts=all		Gene3D:3.30.160.60,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF244,Superfamily_domains:SSF57667		F/L		G	medium	1577/3947		getma.org/?cm=msa&ty=f&p=ZN623_HUMAN&rb=453&re=518&var=F496L	deleterious(0.03)				YES	ZNF623,missense_variant,p.Phe496Leu,ENST00000501748,NM_014789.3;ZNF623,missense_variant,p.Phe456Leu,ENST00000458270,NM_001082480.2;ZNF623,missense_variant,p.Phe456Leu,ENST00000526926,NM_001261843.1;							MODERATE	1488/1611	F496L	ZN623_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000445979		CCDS34957.1			1	
OR5I1	0	LGGM	GRCh37	11	55703375	55703375	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	28	16	.	.	ENST00000301532.3:c.502C>T	p.Leu168=	p.L168=	ENST00000301532	NM_006637.1	168	Ctg/Ttg	0	1	1	UPI00000405D5	0		ENST00000301532		ENSG00000167825	8347		44			HGNC	p.L168L		OR5I1		SNV							ENST00000301532	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF69,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		502/945							YES	OR5I1,synonymous_variant,p.=,ENST00000301532,NM_006637.1;							LOW	502/945		OR5I1_HUMAN			Transcript			.	ENSP00000301532		CCDS7949.1			1	
CATSPERG	0	LGGM	GRCh37	19	38827969	38827969	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	10	16	.	.	ENST00000409235.3:c.95C>G	p.Ser32Trp	p.S32W	ENST00000409235	NM_021185.4	32	tCg/tGg	0	1	1	UPI000022A813	0	NA	ENST00000409235		ENSG00000099338	25243		26	1.355		HGNC	p.S32W		CATSPERG		SNV							ENST00000409410	protein_coding	getma.org/?cm=var&var=hg19,19,38827969,C,G&fts=all		Pfam_domain:PF15064,hmmpanther:PTHR14327,Low_complexity_(Seg):seg		S/W		G	low	210/3746		getma.org/?cm=msa&ty=f&p=CTSRG_HUMAN&rb=12&re=929&var=S32W	deleterious(0.02)	Q32MQ2_HUMAN			YES	CATSPERG,missense_variant,p.Ser32Trp,ENST00000409235,NM_021185.4;CATSPERG,missense_variant,p.Ser32Trp,ENST00000410018,;CATSPERG,missense_variant,p.Ser48Trp,ENST00000215069,;CATSPERG,missense_variant,p.Ser32Trp,ENST00000409410,;CATSPERG,missense_variant,p.Ser32Trp,ENST00000471517,;CATSPERG,missense_variant,p.Ser32Trp,ENST00000312265,;CATSPERG,missense_variant,p.Ser32Trp,ENST00000475343,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000477793,;							MODERATE	95/3480	S32W	CTSRG_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000386962		CCDS12514.2			1	
ACTR2	0	LGGM	GRCh37	2	65492319	65492319	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	42	16	.	.	ENST00000377982.4:c.1029+10A>G		*343*	ENST00000377982	NM_001005386.2			0	1		UPI0000003FCD	0		ENST00000260641		ENSG00000138071	169		58			HGNC	p.S287G		ACTR2		SNV							ENST00000542850	protein_coding							G		-/3861								ACTR2,missense_variant,p.Ser287Gly,ENST00000542850,;ACTR2,intron_variant,,ENST00000260641,NM_005722.3;ACTR2,intron_variant,,ENST00000377982,NM_001005386.2;							MODIFIER	-/1185		ARP2_HUMAN			Transcript			.	ENSP00000260641		CCDS1881.1			1	
ZNF318	0	LGGM	GRCh37	6	43306595	43306595	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	43	16	.	.	ENST00000361428.2:c.5141C>G	p.Pro1714Arg	p.P1714R	ENST00000361428	NM_014345.2	1714	cCa/cGa	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578		59	0.805		HGNC	p.P1714R		ZNF318		SNV							ENST00000361428	protein_coding	getma.org/?cm=var&var=hg19,6,43306595,G,C&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		P/R		C	low	5219/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1590&re=1789&var=P1714R					YES	ZNF318,missense_variant,p.Pro1714Arg,ENST00000361428,NM_014345.2;ZNF318,intron_variant,,ENST00000318149,;ZNF318,intron_variant,,ENST00000606599,;ZNF318,intron_variant,,ENST00000605935,;							MODERATE	5141/6840	P1714R	ZN318_HUMAN			Transcript		possibly_damaging(0.76)	.	ENSP00000354964		CCDS4895.2			1	
SLX4	0	LGGM	GRCh37	16	3640069	3640069	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	76	17	.	.	ENST00000294008.3:c.3570G>A	p.Glu1190=	p.E1190=	ENST00000294008	NM_032444.2	1190	gaG/gaA	0	1	1	UPI000050D2C5	0		ENST00000294008		ENSG00000188827	23845		93			HGNC	p.E1190E		SLX4		SNV			1				ENST00000294008	protein_coding			hmmpanther:PTHR21541		E		T		4211/7307							YES	SLX4,synonymous_variant,p.=,ENST00000294008,NM_032444.2;							LOW	3570/5505		SLX4_HUMAN			Transcript			.	ENSP00000294008		CCDS10506.2			1	
STON1	0	LGGM	GRCh37	2	48809078	48809078	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	45	18	.	.	ENST00000309835.3:c.1306A>G	p.Ser436Gly	p.S436G	ENST00000309835		436	Agt/Ggt	0	1		UPI000006E627	0	getma.org/pdb.php?prot=STON1_HUMAN&from=401&to=715&var=S436G	ENST00000404752		ENSG00000243244	17003		63	2.095		HGNC	p.S436G		STON1		SNV							ENST00000309827	protein_coding	getma.org/?cm=var&var=hg19,2,48809078,A,G&fts=all		Superfamily_domains:0038852,PIRSF_domain:PIRSF037099,Pfam_domain:PF00928,Gene3D:2.60.40.1170,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18,PROSITE_profiles:PS51072		S/G		G	medium	1399/5511		getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=401&re=715&var=S436G	tolerated(0.07)					STON1,missense_variant,p.Ser436Gly,ENST00000309835,;STON1,missense_variant,p.Ser436Gly,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Ser436Gly,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Ser436Gly,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Ser436Gly,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Ser436Gly,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Ser436Gly,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Ser436Gly,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;							MODERATE	1306/2208	S436G	STON1_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000385273		CCDS1841.1			1	
TRAPPC13	0	LGGM	GRCh37	5	64960388	64960388	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	16	18	.	.	ENST00000438419.2:c.1207G>C	p.Asp403His	p.D403H	ENST00000438419		403	Gac/Cac	0	1		UPI000020C82F	0	NA	ENST00000399438		ENSG00000113597	25828		34	2.275		HGNC	p.D404H		TRAPPC13		SNV							ENST00000545191	protein_coding	getma.org/?cm=var&var=hg19,5,64960388,G,C&fts=all		hmmpanther:PTHR13134,hmmpanther:PTHR13134:SF3		D/H		C	medium	1549/3221		getma.org/?cm=msa&ty=f&p=CE044_HUMAN&rb=300&re=417&var=D402H	tolerated(0.05)					TRAPPC13,missense_variant,p.Asp402His,ENST00000399438,NM_001093755.1,NM_024941.3;TRAPPC13,missense_variant,p.Asp404His,ENST00000545191,;TRAPPC13,missense_variant,p.Asp396His,ENST00000231526,NM_001243737.1,NM_001093756.1;TRAPPC13,missense_variant,p.Asp403His,ENST00000438419,;TRAPPC13,missense_variant,p.Asp397His,ENST00000505553,;SGTB,downstream_gene_variant,,ENST00000381007,NM_019072.2;TRAPPC13,non_coding_transcript_exon_variant,,ENST00000512009,;TRAPPC13,non_coding_transcript_exon_variant,,ENST00000505108,;TRAPPC13,non_coding_transcript_exon_variant,,ENST00000415825,;TRAPPC13,downstream_gene_variant,,ENST00000509234,;TRAPPC13,downstream_gene_variant,,ENST00000504243,;TRAPPC13,downstream_gene_variant,,ENST00000520525,;							MODERATE	1204/1254	D402H	TPC13_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000382367		CCDS47222.1			1	
TRPM4	0	LGGM	GRCh37	19	49671250	49671250	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	13	19	.	.	ENST00000252826.5:c.344C>T	p.Pro115Leu	p.P115L	ENST00000252826	NM_017636.3	115	cCg/cTg	0	1	1	UPI0000070598	0	NA	ENST00000252826		ENSG00000130529	17993	8.64E-05	32	3.105		HGNC	p.P115L	rs765605358	TRPM4		SNV			1				ENST00000427978	protein_coding	getma.org/?cm=var&var=hg19,19,49671250,C,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6		P/L		T	medium	470/4109	3.01E-05	getma.org/?cm=msa&ty=f&p=TRPM4_HUMAN&rb=1&re=200&var=P115L	deleterious(0)				YES	TRPM4,missense_variant,p.Pro115Leu,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.Pro115Leu,ENST00000427978,NM_001195227.1;TRPM4,intron_variant,,ENST00000355712,;TRPM4,intron_variant,,ENST00000598691,;TRPM4,upstream_gene_variant,,ENST00000601347,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000594568,;TRPM4,intron_variant,,ENST00000595519,;TRPM4,intron_variant,,ENST00000598502,;TRPM4,intron_variant,,ENST00000598697,;							MODERATE	344/3645	P115L	TRPM4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000252826	2.47E-05	CCDS33073.1			1	
BMPR1B	0	LGGM	GRCh37	4	96025667	96025667	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	20	19	.	.	ENST00000440890.2:c.182G>A	p.Arg61His	p.R61H	ENST00000440890		61	cGt/cAt	0	1		UPI000000DC59	0	getma.org/pdb.php?prot=BMR1B_HUMAN&from=30&to=110&var=R31H	ENST00000264568		ENSG00000138696	1077	8.73E-05	39	1.15		HGNC	p.R31H	rs200035802,COSM20542	BMPR1B	0.000182	SNV			1	9.61E-05		0,1	ENST00000264568	protein_coding	getma.org/?cm=var&var=hg19,4,96025667,G,A&fts=all	A:0	hmmpanther:PTHR23255:SF62,hmmpanther:PTHR23255,Pfam_domain:PF01064,Gene3D:2.10.60.10,Superfamily_domains:SSF57302		R/H		A	low	246/1807	4.50E-05	getma.org/?cm=msa&ty=f&p=BMR1B_HUMAN&rb=30&re=110&var=R31H	tolerated(0.07)	D6RGW8_HUMAN	A:0	A:0.002		BMPR1B,missense_variant,p.Arg31His,ENST00000515059,NM_001203.2;BMPR1B,missense_variant,p.Arg31His,ENST00000394931,;BMPR1B,missense_variant,p.Arg31His,ENST00000264568,NM_001256794.1;BMPR1B,missense_variant,p.Arg31His,ENST00000509540,NM_001256793.1;BMPR1B,missense_variant,p.Arg61His,ENST00000440890,;BMPR1B,missense_variant,p.Arg31His,ENST00000512312,NM_001256792.1;BMPR1B,missense_variant,p.Arg31His,ENST00000506363,;BMPR1B,missense_variant,p.Arg31His,ENST00000502683,;	0.00116	A:0.0006			0,1		MODERATE	92/1509	R31H	BMR1B_HUMAN		A:0.001	Transcript		benign(0.425)	common_variant	ENSP00000264568	0.000148	CCDS3642.1		A:0	1	
FAM196A	0	LGGM	GRCh37	10	128974396	128974396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	26	21	.	.	ENST00000522781.1:c.264G>T	p.Met88Ile	p.M88I	ENST00000522781	NM_001039762.2	88	atG/atT	0	1	1	UPI00001C0E37	0	NA	ENST00000522781		ENSG00000188916	33859		47	0.975		HGNC	p.M88I		FAM196A		SNV							ENST00000522781	protein_coding	getma.org/?cm=var&var=hg19,10,128974396,C,A&fts=all		Pfam_domain:PF15265		M/I		A	low	820/4403		getma.org/?cm=msa&ty=f&p=F196A_HUMAN&rb=14&re=123&var=M88I	deleterious(0)				YES	FAM196A,missense_variant,p.Met88Ile,ENST00000522781,NM_001039762.2;FAM196A,missense_variant,p.Met88Ile,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.3;							MODERATE	264/1440	M88I	F196A_HUMAN			Transcript		benign(0.384)	.	ENSP00000429763		CCDS31312.1			1	
NLRP7	0	LGGM	GRCh37	19	55451671	55451671	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	37	21	.	.	ENST00000588756.1:c.516C>G	p.Tyr172Ter	p.Y172*	ENST00000588756		172	taC/taG	0	1		UPI0000046432	0	NA	ENST00000340844		ENSG00000167634	22947		58	0		HGNC	p.Y200X		NLRP7		SNV			1				ENST00000446217	protein_coding	getma.org/?cm=var&var=hg19,19,55451671,G,C&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50837,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,Superfamily_domains:SSF52540		Y/*		C	NA	592/3250		NA		K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN				NLRP7,stop_gained,p.Tyr200Ter,ENST00000446217,;NLRP7,stop_gained,p.Tyr172Ter,ENST00000588756,;NLRP7,stop_gained,p.Tyr172Ter,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,stop_gained,p.Tyr172Ter,ENST00000328092,;NLRP7,stop_gained,p.Tyr172Ter,ENST00000592784,;NLRP7,stop_gained,p.Tyr172Ter,ENST00000340844,NM_206828.3;NLRP7,stop_gained,p.Tyr172Ter,ENST00000590030,;NLRP7,downstream_gene_variant,,ENST00000590659,;NLRP7,downstream_gene_variant,,ENST00000587103,;NLRP7,downstream_gene_variant,,ENST00000587844,;NLRP7,stop_gained,p.Tyr172Ter,ENST00000586379,;							HIGH	516/2943	Y172*	NALP7_HUMAN			Transcript			.	ENSP00000339491		CCDS33109.1			1	
ORC1	0	LGGM	GRCh37	1	52867069	52867069	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	47	22	.	.	ENST00000371568.3:c.188C>T	p.Pro63Leu	p.P63L	ENST00000371568	NM_001190818.1	63	cCg/cTg	0	1		UPI000013D2FB	0	getma.org/pdb.php?prot=ORC1_HUMAN&from=45&to=169&var=P63L	ENST00000371566		ENSG00000085840	8487		69	2.485		HGNC	p.P63L		ORC1		SNV			1				ENST00000371568	protein_coding	getma.org/?cm=var&var=hg19,1,52867069,G,A&fts=all		Pfam_domain:PF01426,PROSITE_profiles:PS51038,hmmpanther:PTHR10763,hmmpanther:PTHR10763:SF6,SMART_domains:SM00439		P/L		A	medium	332/3080		getma.org/?cm=msa&ty=f&p=ORC1_HUMAN&rb=45&re=169&var=P63L	deleterious(0.04)					ORC1,missense_variant,p.Pro63Leu,ENST00000371568,NM_001190818.1,NM_001190819.1,NM_004153.3;ORC1,missense_variant,p.Pro63Leu,ENST00000371566,;PRPF38A,upstream_gene_variant,,ENST00000257181,NM_032864.3;PRPF38A,upstream_gene_variant,,ENST00000474048,;PRPF38A,upstream_gene_variant,,ENST00000487160,;							MODERATE	188/2586	P63L	ORC1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000360621		CCDS566.1			1	
STK38	0	LGGM	GRCh37	6	36492162	36492162	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	64	22	.	.	ENST00000229812.7:c.262G>C	p.Asp88His	p.D88H	ENST00000229812	NM_007271.2	88	Gat/Cat	0	1	1	UPI0000047AC1	0	NA	ENST00000229812		ENSG00000112079	17847		86	3.155		HGNC	p.D88H		STK38		SNV							ENST00000229812	protein_coding	getma.org/?cm=var&var=hg19,6,36492162,C,G&fts=all		hmmpanther:PTHR24358:SF7,hmmpanther:PTHR24358,Gene3D:3.30.200.20,Superfamily_domains:SSF56112		D/H		G	medium	548/3576		getma.org/?cm=msa&ty=f&p=STK38_HUMAN&rb=1&re=88&var=D88H	deleterious(0)				YES	STK38,missense_variant,p.Asp88His,ENST00000229812,NM_007271.2;RN7SL748P,downstream_gene_variant,,ENST00000483066,;							MODERATE	262/1398	D88H	STK38_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000229812		CCDS4822.1			1	
LPIN1	0	LGGM	GRCh37	2	11943132	11943132	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	39	22	.	.	ENST00000449576.2:c.2133G>C	p.Lys711Asn	p.K711N	ENST00000449576	NM_001261428.1	711	aaG/aaC	0	1		UPI000012E864	0	NA	ENST00000256720		ENSG00000134324	13345		61	3.415		HGNC	p.K153N		LPIN1		SNV			1				ENST00000454151	protein_coding	getma.org/?cm=var&var=hg19,2,11943132,G,C&fts=all		hmmpanther:PTHR12181:SF10,hmmpanther:PTHR12181		K/N		C	medium	1971/5384		getma.org/?cm=msa&ty=f&p=LPIN1_HUMAN&rb=515&re=673&var=K626N	deleterious(0)	C9J278_HUMAN,C9IYP2_HUMAN,B4DGZ6_HUMAN				LPIN1,missense_variant,p.Lys626Asn,ENST00000256720,NM_145693.2;LPIN1,missense_variant,p.Lys356Asn,ENST00000396097,;LPIN1,missense_variant,p.Lys668Asn,ENST00000396099,;LPIN1,missense_variant,p.Lys711Asn,ENST00000449576,NM_001261428.1;LPIN1,missense_variant,p.Lys632Asn,ENST00000425416,NM_001261427.1;LPIN1,missense_variant,p.Lys127Asn,ENST00000404113,;LPIN1,missense_variant,p.Lys153Asn,ENST00000454151,;LPIN1,upstream_gene_variant,,ENST00000487346,;							MODERATE	1878/2673	K626N	LPIN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256720		CCDS1682.1			1	
RNASE7	0	LGGM	GRCh37	14	21511608	21511608	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	66	22	.	.	ENST00000298690.4:c.457G>C	p.Asp153His	p.D153H	ENST00000298690	NM_032572.3	153	Gac/Cac	0	1	1	UPI000013E505	0	getma.org/pdb.php?prot=RNAS7_HUMAN&from=32&to=153&var=D153H	ENST00000298690		ENSG00000165799	19278		88	3.01		HGNC	p.D153H		RNASE7		SNV							ENST00000481538	protein_coding	getma.org/?cm=var&var=hg19,14,21511608,G,C&fts=all		hmmpanther:PTHR11437:SF25,hmmpanther:PTHR11437,Pfam_domain:PF00074,Gene3D:3.10.130.10,SMART_domains:SM00092,Superfamily_domains:SSF54076		D/H		C	medium	714/1498		getma.org/?cm=msa&ty=f&p=RNAS7_HUMAN&rb=32&re=153&var=D153H	deleterious(0)				YES	RNASE7,missense_variant,p.Asp153His,ENST00000298690,NM_032572.3;NDRG2,intron_variant,,ENST00000403829,NM_001282211.1;NDRG2,intron_variant,,ENST00000555026,;RNASE7,missense_variant,p.Asp153His,ENST00000481538,;							MODERATE	457/471	D153H	RNAS7_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000298690		CCDS41914.1			1	
TTN	0	LGGM	GRCh37	2	179413816	179413816	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	74	24	.	.	ENST00000589042.1:c.92537T>A	p.Val30846Glu	p.V30846E	ENST00000589042	NM_001267550.1	30846	gTg/gAg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=29182&to=29266&var=V29205E	ENST00000591111		ENSG00000155657	12403		98	0.385		HGNC	p.V21906E		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179413816,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		V/E		T	neutral	87839/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=29182&re=29266&var=V29205E		C9JQJ2_HUMAN				TTN,missense_variant,p.Val30846Glu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Val29205Glu,ENST00000591111,;TTN,missense_variant,p.Val28278Glu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Val21973Glu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Val21906Glu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Val21781Glu,ENST00000460472,NM_003319.4;RP11-65L3.2,non_coding_transcript_exon_variant,,ENST00000603415,;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,;							MODERATE	87614/103053	V29205E	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
GOLPH3L	0	LGGM	GRCh37	1	150634317	150634317	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	67	24	.	.	ENST00000271732.3:c.403G>A	p.Val135Ile	p.V135I	ENST00000271732	NM_018178.5	135	Gtc/Atc	0	1	1	UPI0000034E13	0	getma.org/pdb.php?prot=GLP3L_HUMAN&from=48&to=281&var=V135I	ENST00000271732		ENSG00000143457	24882		91	1.295		HGNC	p.V157I	rs776216718	GOLPH3L		SNV							ENST00000427665	protein_coding	getma.org/?cm=var&var=hg19,1,150634317,C,T&fts=all		Gene3D:2zihB00,Pfam_domain:PF05719,hmmpanther:PTHR12704,hmmpanther:PTHR12704:SF4		V/I		T	low	448/2999	1.50E-05	getma.org/?cm=msa&ty=f&p=GLP3L_HUMAN&rb=48&re=281&var=V135I	tolerated(0.14)				YES	GOLPH3L,missense_variant,p.Val135Ile,ENST00000271732,NM_018178.5;GOLPH3L,missense_variant,p.Val91Ile,ENST00000540514,;GOLPH3L,missense_variant,p.Val157Ile,ENST00000427665,;							MODERATE	403/858	V135I	GLP3L_HUMAN			Transcript		benign(0.067)	.	ENSP00000271732	8.24E-06	CCDS966.1			1	
ITGA11	0	LGGM	GRCh37	15	68649563	68649563	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	66	26	.	.	ENST00000315757.7:c.675G>C	p.Val225=	p.V225=	ENST00000315757	NM_001004439.1	225	gtG/gtC	0	1	1	UPI00001FE74D	0		ENST00000315757		ENSG00000137809	6136		92			HGNC	p.V225V		ITGA11		SNV							ENST00000315757	protein_coding			Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF21,SMART_domains:SM00327,Superfamily_domains:SSF53300		V		G		762/5001							YES	ITGA11,synonymous_variant,p.=,ENST00000423218,;ITGA11,synonymous_variant,p.=,ENST00000315757,NM_001004439.1;ITGA11,non_coding_transcript_exon_variant,,ENST00000562826,;ITGA11,non_coding_transcript_exon_variant,,ENST00000568677,;ITGA11,non_coding_transcript_exon_variant,,ENST00000565868,;							LOW	675/3567		ITA11_HUMAN			Transcript			.	ENSP00000327290		CCDS45291.1			1	
CD1D	0	LGGM	GRCh37	1	158151884	158151884	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	114	28	.	.	ENST00000368171.3:c.391T>G	p.Phe131Val	p.F131V	ENST00000368171	NM_001766.3	131	Ttc/Gtc	0	1	1	UPI00000012B1	0	getma.org/pdb.php?prot=CD1D_HUMAN&from=1&to=200&var=F131V	ENST00000368171		ENSG00000158473	1637		142	3.045		HGNC	p.F131V		CD1D		SNV							ENST00000368171	protein_coding	getma.org/?cm=var&var=hg19,1,158151884,T,G&fts=all		Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF146,Superfamily_domains:SSF54452		F/V		G	medium	890/2253		getma.org/?cm=msa&ty=f&p=CD1D_HUMAN&rb=1&re=200&var=F131V	deleterious(0)				YES	CD1D,missense_variant,p.Phe131Val,ENST00000368171,NM_001766.3;ELL2P1,upstream_gene_variant,,ENST00000413990,;							MODERATE	391/1008	F131V	CD1D_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000357153		CCDS1173.1			1	
PCDHGA5	0	LGGM	GRCh37	5	140744642	140744642	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	31	29	.	.	ENST00000518069.1:c.745G>A	p.Val249Met	p.V249M	ENST00000518069	NM_018918.2	249	Gtg/Atg	0	1	1	UPI000006CD9F	0	getma.org/pdb.php?prot=PCDG5_HUMAN&from=247&to=338&var=V249M	ENST00000518069		ENSG00000253485	8703		60	2.655		HGNC	p.V249M	rs754573655	PCDHGA5		SNV							ENST00000518069	protein_coding	getma.org/?cm=var&var=hg19,5,140744642,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF105,Superfamily_domains:SSF49313		V/M		A	medium	745/4602		getma.org/?cm=msa&ty=f&p=PCDG5_HUMAN&rb=247&re=338&var=V249M	deleterious_low_confidence(0.02)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA5,missense_variant,p.Val249Met,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;							MODERATE	745/2796	V249M	PCDG5_HUMAN	0.000151		Transcript		possibly_damaging(0.473)	.	ENSP00000429834	8.26E-06	CCDS54925.1			1	
TPM2	0	LGGM	GRCh37	9	35689808	35689808	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	70	30	.	.	ENST00000378292.3:c.7G>T	p.Ala3Ser	p.A3S	ENST00000378292	NM_213674.1	3	Gcc/Tcc	0	1		UPI0000137258	0	getma.org/pdb.php?prot=TPM2_HUMAN&from=1&to=47&var=A3S	ENST00000360958		ENSG00000198467	12011		100	2.005		HGNC	p.A3S		TPM2		SNV			1				ENST00000378300	protein_coding	getma.org/?cm=var&var=hg19,9,35689808,C,A&fts=all		Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19269,hmmpanther:PTHR19269:SF42,Superfamily_domains:SSF57997		A/S		A	medium	112/1189		getma.org/?cm=msa&ty=f&p=TPM2_HUMAN&rb=1&re=47&var=A3S	tolerated(0.05)					TPM2,missense_variant,p.Ala3Ser,ENST00000378292,NM_213674.1;TPM2,missense_variant,p.Ala3Ser,ENST00000378300,;TPM2,missense_variant,p.Ala3Ser,ENST00000360958,NM_003289.3;TPM2,missense_variant,p.Ala3Ser,ENST00000329305,;TPM2,upstream_gene_variant,,ENST00000607559,;TPM2,non_coding_transcript_exon_variant,,ENST00000471212,;TPM2,non_coding_transcript_exon_variant,,ENST00000604975,;TPM2,upstream_gene_variant,,ENST00000486018,;							MODERATE	7/855	A3S	TPM2_HUMAN			Transcript		benign(0.122)	.	ENSP00000354219		CCDS6587.1			1	
ADCY6	0	LGGM	GRCh37	12	49170894	49170894	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	54	33	.	.	ENST00000307885.4:c.1369G>A	p.Ala457Thr	p.A457T	ENST00000307885	NM_015270.3	457	Gcc/Acc	0	1	1	UPI000003EC29	0	getma.org/pdb.php?prot=ADCY6_HUMAN&from=370&to=554&var=A457T	ENST00000307885		ENSG00000174233	237		87	1.515		HGNC	p.A457T		ADCY6		SNV			1				ENST00000550422	protein_coding	getma.org/?cm=var&var=hg19,12,49170894,C,T&fts=all		Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,SMART_domains:SM00044,Superfamily_domains:SSF55073		A/T		T	low	2064/6464		getma.org/?cm=msa&ty=f&p=ADCY6_HUMAN&rb=370&re=554&var=A457T	deleterious(0.05)	Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,missense_variant,p.Ala457Thr,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Ala457Thr,ENST00000357869,;ADCY6,missense_variant,p.Ala457Thr,ENST00000550422,NM_020983.2;ADCY6,downstream_gene_variant,,ENST00000548820,;ADCY6,upstream_gene_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,non_coding_transcript_exon_variant,,ENST00000551435,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;							MODERATE	1369/3507	A457T	ADCY6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000311405		CCDS8767.1			1	
FAM196A	0	LGGM	GRCh37	10	128973665	128973665	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H104792	H104792N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	51	38	.	.	ENST00000522781.1:c.995G>A	p.Gly332Glu	p.G332E	ENST00000522781	NM_001039762.2	332	gGg/gAg	0	1	1	UPI00001C0E37	0	NA	ENST00000522781		ENSG00000188916	33859		89	-1.61		HGNC	p.G332E		FAM196A		SNV							ENST00000522781	protein_coding	getma.org/?cm=var&var=hg19,10,128973665,C,T&fts=all		Pfam_domain:PF15265		G/E		T	neutral	1551/4403		getma.org/?cm=msa&ty=f&p=F196A_HUMAN&rb=294&re=371&var=G332E	tolerated(1)				YES	FAM196A,missense_variant,p.Gly332Glu,ENST00000522781,NM_001039762.2;FAM196A,missense_variant,p.Gly332Glu,ENST00000424811,;DOCK1,intron_variant,,ENST00000280333,NM_001380.3;							MODERATE	995/1440	G332E	F196A_HUMAN			Transcript		benign(0.001)	.	ENSP00000429763		CCDS31312.1			1	
MED12L	0	LGGM	GRCh37	3	151067870	151067870	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H104792	H104792N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	186	40	.	.	ENST00000474524.1:c.2169T>C	p.Cys723=	p.C723=	ENST00000474524	NM_053002.4	723	tgT/tgC	0	1	1	UPI000020A46B	0		ENST00000474524		ENSG00000144893	16050		226			HGNC	p.C723C	COSM1419969	MED12L		SNV						1	ENST00000474524	protein_coding			Pfam_domain:PF12145,hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5		C		C		2207/10744							YES	MED12L,synonymous_variant,p.=,ENST00000474524,NM_053002.4;MED12L,synonymous_variant,p.=,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_022788.4,NM_176876.2;MED12L,non_coding_transcript_exon_variant,,ENST00000491549,;MED12L,non_coding_transcript_exon_variant,,ENST00000468305,;					1		LOW	2169/6438		MD12L_HUMAN			Transcript			.	ENSP00000417235		CCDS33876.1			1	
ELMOD1	0	LGGM	GRCh37	11	107506453	107506453	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	156	41	.	.	ENST00000265840.7:c.382G>C	p.Asp128His	p.D128H	ENST00000265840	NM_018712.3	128	Gat/Cat	0	1	1	UPI000006DF30	0	NA	ENST00000265840		ENSG00000110675	25334		197	2.88		HGNC	p.D128H		ELMOD1		SNV							ENST00000443271	protein_coding	getma.org/?cm=var&var=hg19,11,107506453,G,C&fts=all		Pfam_domain:PF04727,hmmpanther:PTHR12771,hmmpanther:PTHR12771:SF18		D/H		C	medium	647/2852		getma.org/?cm=msa&ty=f&p=ELMD1_HUMAN&rb=114&re=304&var=D128H	deleterious(0)	E9PLM8_HUMAN			YES	ELMOD1,missense_variant,p.Asp128His,ENST00000265840,NM_018712.3;ELMOD1,missense_variant,p.Asp128His,ENST00000443271,NM_001130037.1;ELMOD1,missense_variant,p.Asp122His,ENST00000531234,;							MODERATE	382/1005	D128H	ELMD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265840		CCDS44723.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125284882	125284882	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H104792	H104792N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	73	41	.	.	ENST00000431078.1:c.1495G>C	p.Asp499His	p.D499H	ENST00000431078	NM_130773.3	499	Gat/Cat	0	1	1	UPI0000071988	0	getma.org/pdb.php?prot=CNTP5_HUMAN&from=395&to=521&var=D499H	ENST00000431078		ENSG00000155052	18748		114	1.905		HGNC	p.D499H		CNTNAP5		SNV							ENST00000431078	protein_coding	getma.org/?cm=var&var=hg19,2,125284882,G,C&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		D/H		C	medium	1859/5284		getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=395&re=521&var=D499H	deleterious(0.04)				YES	CNTNAP5,missense_variant,p.Asp499His,ENST00000431078,NM_130773.3;							MODERATE	1495/3921	D499H	CNTP5_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000399013		CCDS46401.1			1	
POTEH	0	LGGM	GRCh37	22	16287675	16287675	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H104792	H104792N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H104792N.bam, H104792T.bam	Illumina HiSeq	107	65	.	.	ENST00000343518.6:c.211T>A	p.Trp71Arg	p.W71R	ENST00000343518	NM_001136213.1	71	Tgg/Agg	0	1	1	UPI0000E5A425	0	NA	ENST00000343518		ENSG00000198062	133		172	0		HGNC	p.W71R		POTEH		SNV							ENST00000343518	protein_coding	getma.org/?cm=var&var=hg19,22,16287675,A,T&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		W/R		T	neutral	263/1928		getma.org/?cm=msa&ty=f&p=POTEH_HUMAN&rb=40&re=179&var=W71R	deleterious_low_confidence(0.05)				YES	POTEH,missense_variant,p.Trp71Arg,ENST00000343518,NM_001136213.1;POTEH,missense_variant,p.Trp15Arg,ENST00000452800,;							MODERATE	211/1638	W71R	POTEH_HUMAN			Transcript		benign(0.155)	.	ENSP00000340610		CCDS46658.1			1	
PAXIP1	0	LGGM	GRCh37	7	154748938	154748938	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	10	2	.	.	ENST00000404141.1:c.2545G>T	p.Ala849Ser	p.A849S	ENST00000404141		849	Gcc/Tcc	0	1		UPI00004166F9	0	NA	ENST00000397192		ENSG00000157212	8624		12	1.87		HGNC	p.A849S		PAXIP1		SNV							ENST00000397192	protein_coding	getma.org/?cm=var&var=hg19,7,154748938,C,A&fts=all		hmmpanther:PTHR23196,hmmpanther:PTHR23196:SF1,Superfamily_domains:SSF52113		A/S		A	low	2588/3711		getma.org/?cm=msa&ty=f&p=PAXI1_HUMAN&rb=777&re=866&var=A849S	deleterious(0.05)					PAXIP1,missense_variant,p.Ala849Ser,ENST00000404141,;PAXIP1,missense_variant,p.Ala849Ser,ENST00000397192,NM_007349.3;RP11-5C23.2,downstream_gene_variant,,ENST00000609134,;PAXIP1,non_coding_transcript_exon_variant,,ENST00000473219,;PAXIP1,3_prime_UTR_variant,,ENST00000457196,;PAXIP1,non_coding_transcript_exon_variant,,ENST00000464717,;PAXIP1,downstream_gene_variant,,ENST00000485730,;							MODERATE	2545/3210	A849S	PAXI1_HUMAN			Transcript		unknown(0)	.	ENSP00000380376					1	
ITGAE	0	LGGM	GRCh37	17	3653645	3653645	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	29	3	.	.	ENST00000263087.4:c.2024+1G>T		p.X675_splice	ENST00000263087	NM_002208.4			0	1	1	UPI000049DE2D	0		ENST00000263087		ENSG00000083457	6147		32			HGNC	-		ITGAE		SNV							ENST00000263087	protein_coding							A		-/3858							YES	ITGAE,splice_donor_variant,,ENST00000263087,NM_002208.4;ITGAE,downstream_gene_variant,,ENST00000572121,;							HIGH	2024/3540		ITAE_HUMAN			Transcript			.	ENSP00000263087		CCDS32531.1			1	
GPR162	0	LGGM	GRCh37	12	6933260	6933260	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	34	3	.	.	ENST00000311268.3:c.196C>T	p.Pro66Ser	p.P66S	ENST00000311268	NM_019858.1	66	Ccc/Tcc	0	1	1	UPI000005046E	0	NA	ENST00000311268		ENSG00000250510	16693		37	0.975		HGNC	p.P66S	rs781965709	GPR162		SNV							ENST00000311268	protein_coding	getma.org/?cm=var&var=hg19,12,6933260,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01991,PROSITE_profiles:PS50262,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF6,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/S		T	low	983/2768	1.51E-05	getma.org/?cm=msa&ty=f&p=GP162_HUMAN&rb=30&re=323&var=P66S	deleterious(0.04)	J3KPJ9_HUMAN			YES	GPR162,missense_variant,p.Pro66Ser,ENST00000311268,NM_019858.1;GPR162,intron_variant,,ENST00000428545,NM_014449.1;GPR162,intron_variant,,ENST00000382315,;CD4,downstream_gene_variant,,ENST00000011653,NM_000616.4,NM_001195017.2,NM_001195016.2,NM_001195015.2;LEPREL2,upstream_gene_variant,,ENST00000251761,NM_014262.3;LEPREL2,upstream_gene_variant,,ENST00000396725,;GPR162,upstream_gene_variant,,ENST00000545321,;GPR162,non_coding_transcript_exon_variant,,ENST00000541431,;GPR162,upstream_gene_variant,,ENST00000542330,;GPR162,non_coding_transcript_exon_variant,,ENST00000535220,;LEPREL2,upstream_gene_variant,,ENST00000536140,;CD4,downstream_gene_variant,,ENST00000437800,;LEPREL2,upstream_gene_variant,,ENST00000606935,;							MODERATE	196/1767	P66S	GP162_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000311528	8.24E-06	CCDS8563.1			1	
CIT	0	LGGM	GRCh37	12	120152073	120152073	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H105106	H105106N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	21	3	.	.	ENST00000392521.2:c.4235A>T	p.Asn1412Ile	p.N1412I	ENST00000392521	NM_001206999.1	1412	aAc/aTc	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		24	1.845		HGNC	p.N1412I		CIT		SNV							ENST00000392521	protein_coding	getma.org/?cm=var&var=hg19,12,120152073,T,A&fts=all		PROSITE_profiles:PS50081,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PROSITE_patterns:PS00479,Gene3D:3.30.60.20,PIRSF_domain:PIRSF038145,SMART_domains:SM00109,Superfamily_domains:SSF57889		N/I		A	low	4162/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=1367&re=1566&var=N1370I	deleterious(0.02)					CIT,missense_variant,p.Asn1412Ile,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Asn1370Ile,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Asn983Ile,ENST00000392520,;MIR1178,upstream_gene_variant,,ENST00000408396,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,upstream_gene_variant,,ENST00000543324,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;CIT,non_coding_transcript_exon_variant,,ENST00000544588,;CIT,upstream_gene_variant,,ENST00000543239,;CIT,upstream_gene_variant,,ENST00000536008,;CIT,upstream_gene_variant,,ENST00000544800,;CIT,upstream_gene_variant,,ENST00000538073,;							MODERATE	4109/6084	N1370I	CTRO_HUMAN			Transcript		benign(0.08)	.	ENSP00000261833		CCDS9192.1			1	
NKX2-2	0	LGGM	GRCh37	20	21493022	21493022	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	7	3	.	.	ENST00000377142.4:c.361G>T	p.Gly121Cys	p.G121C	ENST00000377142	NM_002509.3	121	Ggc/Tgc	0	1	1	UPI00001301E6	0	NA	ENST00000377142		ENSG00000125820	7835		10	0.345		HGNC	p.G121C		NKX2-2		SNV							ENST00000377142	protein_coding	getma.org/?cm=var&var=hg19,20,21493022,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24340,hmmpanther:PTHR24340:SF24,Gene3D:1.10.10.60,Superfamily_domains:SSF46689		G/C		A	neutral	718/2092		getma.org/?cm=msa&ty=f&p=NKX22_HUMAN&rb=1&re=128&var=G121C	deleterious(0.01)				YES	NKX2-2,missense_variant,p.Gly121Cys,ENST00000377142,NM_002509.3;NKX2-2-AS1,downstream_gene_variant,,ENST00000549659,;							MODERATE	361/822	G121C	NKX22_HUMAN			Transcript		benign(0.366)	.	ENSP00000366347		CCDS13145.1			1	
KLHDC7B	0	LGGM	GRCh37	22	50987390	50987390	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H105106	H105106N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	8	3	.	.	ENST00000395676.2:c.795G>T	p.Ala265=	p.A265=	ENST00000395676	NM_138433.3	265	gcG/gcT	0	1	1	UPI00005A75D4	0		ENST00000395676		ENSG00000130487	25145		11			HGNC	p.A265A		KLHDC7B		SNV							ENST00000395676	protein_coding			hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF147		A		T		929/2990							YES	KLHDC7B,synonymous_variant,p.=,ENST00000395676,NM_138433.3;SYCE3,downstream_gene_variant,,ENST00000406915,NM_001123225.1;SYCE3,downstream_gene_variant,,ENST00000402753,;CTA-384D8.31,downstream_gene_variant,,ENST00000434237,;							LOW	795/1785		KLD7B_HUMAN			Transcript			.	ENSP00000379034		CCDS14097.2			1	
CYP2R1	0	LGGM	GRCh37	11	14900743	14900743	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H105106	H105106N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	40	3	.	.	ENST00000334636.5:c.1247A>G	p.Asp416Gly	p.D416G	ENST00000334636	NM_024514.4	416	gAc/gGc	0	1	1	UPI000003F04B	0	getma.org/pdb.php?prot=CP2R1_HUMAN&from=40&to=498&var=D416G	ENST00000334636		ENSG00000186104	20580		43	3.045		HGNC	p.D183G		CYP2R1		SNV			1				ENST00000532378	protein_coding	getma.org/?cm=var&var=hg19,11,14900743,T,C&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF48,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463		D/G		C	medium	1294/1613		getma.org/?cm=msa&ty=f&p=CP2R1_HUMAN&rb=40&re=498&var=D416G	deleterious(0.01)				YES	CYP2R1,missense_variant,p.Asp183Gly,ENST00000532378,;CYP2R1,missense_variant,p.Asp416Gly,ENST00000334636,NM_024514.4;CYP2R1,downstream_gene_variant,,ENST00000526489,;CYP2R1,downstream_gene_variant,,ENST00000526276,;CYP2R1,downstream_gene_variant,,ENST00000532641,;CYP2R1,downstream_gene_variant,,ENST00000529043,;CYP2R1,splice_region_variant,,ENST00000532805,;CYP2R1,synonymous_variant,p.=,ENST00000525015,;CYP2R1,3_prime_UTR_variant,,ENST00000530609,;CYP2R1,3_prime_UTR_variant,,ENST00000534686,;							MODERATE	1247/1506	D416G	CP2R1_HUMAN			Transcript		benign(0.232)	.	ENSP00000334592		CCDS7818.1			1	
SPEG	0	LGGM	GRCh37	2	220336974	220336974	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	31	3	.	.	ENST00000312358.7:c.3861C>T	p.Gly1287=	p.G1287=	ENST00000312358	NM_005876.4	1287	ggC/ggT	0	1	1	UPI000066D99E	0		ENST00000312358		ENSG00000072195	16901	8.65E-05	34			HGNC	p.G1287G	rs771154003	SPEG		SNV			1				ENST00000312358	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		G		T		3993/10782	1.53E-05			B9A038_HUMAN			YES	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,non_coding_transcript_exon_variant,,ENST00000485069,;							LOW	3861/9804		SPEG_HUMAN			Transcript			.	ENSP00000311684	1.65E-05	CCDS42824.1			1	
MPDZ	0	LGGM	GRCh37	9	13176362	13176362	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	48	4	.	.	ENST00000541718.1:c.2704G>C	p.Glu902Gln	p.E902Q	ENST00000541718	NM_001261407.1	902	Gaa/Caa	0	1		UPI0000211133	0	NA	ENST00000319217		ENSG00000107186	7208		52	0.55		HGNC	p.E902Q		MPDZ		SNV			1				ENST00000381015	protein_coding	getma.org/?cm=var&var=hg19,9,13176362,C,G&fts=all		hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10		E/Q		G	neutral	2952/7722		getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=785&re=984&var=E902Q	tolerated(0.13)	B3KRN5_HUMAN,B3KQC9_HUMAN				MPDZ,missense_variant,p.Glu902Gln,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Glu902Gln,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Glu902Gln,ENST00000381022,;MPDZ,missense_variant,p.Glu902Gln,ENST00000381015,;MPDZ,missense_variant,p.Glu902Gln,ENST00000546205,;MPDZ,missense_variant,p.Glu902Gln,ENST00000447879,;MPDZ,missense_variant,p.Glu902Gln,ENST00000536827,;MPDZ,upstream_gene_variant,,ENST00000545857,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,upstream_gene_variant,,ENST00000319198,;							MODERATE	2704/6213	E902Q	MPDZ_HUMAN			Transcript		benign(0.12)	.	ENSP00000320006					1	
CREB5	0	LGGM	GRCh37	7	28610124	28610124	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H105106	H105106N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	39	4	.	.	ENST00000357727.2:c.433A>C	p.Thr145Pro	p.T145P	ENST00000357727	NM_182898.2	145	Act/Cct	0	1	1	UPI0000457534	0	NA	ENST00000357727		ENSG00000146592	16844		43	2.365		HGNC	p.T145P		CREB5		SNV							ENST00000357727	protein_coding	getma.org/?cm=var&var=hg19,7,28610124,A,C&fts=all		PIRSF_domain:PIRSF003153,hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF8		T/P		C	medium	823/8532		getma.org/?cm=msa&ty=f&p=CREB5_HUMAN&rb=1&re=200&var=T145P	deleterious(0)	H9KVC5_HUMAN,C9JN33_HUMAN			YES	CREB5,missense_variant,p.Thr145Pro,ENST00000357727,NM_182898.2;CREB5,missense_variant,p.Thr138Pro,ENST00000396300,NM_004904.2;CREB5,missense_variant,p.Thr112Pro,ENST00000396299,NM_182899.3;CREB5,missense_variant,p.Thr112Pro,ENST00000409603,;CREB5,downstream_gene_variant,,ENST00000424599,;CREB5,non_coding_transcript_exon_variant,,ENST00000461921,;							MODERATE	433/1527	T145P	CREB5_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000350359		CCDS5417.1			1	
BRINP3	0	LGGM	GRCh37	1	190195340	190195340	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H105106	H105106N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	39	4	.	.	ENST00000367462.3:c.833G>C	p.Cys278Ser	p.C278S	ENST00000367462	NM_199051.1	278	tGc/tCc	0	1	1	UPI00001C1D9A	0	NA	ENST00000367462		ENSG00000162670	22393		43	1.845		HGNC	p.C176S		BRINP3		SNV							ENST00000534846	protein_coding	getma.org/?cm=var&var=hg19,1,190195340,C,G&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		C/S		G	low	1065/2889		getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=200&re=399&var=C278S	deleterious(0.02)				YES	BRINP3,missense_variant,p.Cys278Ser,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.Cys176Ser,ENST00000534846,;BRINP3,upstream_gene_variant,,ENST00000463404,;							MODERATE	833/2301	C278S	BRNP3_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000356432		CCDS1373.1			1	
MYPN	0	LGGM	GRCh37	10	69959166	69959166	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H105106	H105106N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	37	4	.	.	ENST00000358913.5:c.3327T>A	p.Asn1109Lys	p.N1109K	ENST00000358913	NM_032578.3	1109	aaT/aaA	0	1	1	UPI00002288CF	0	getma.org/pdb.php?prot=MYPN_HUMAN&from=1073&to=1163&var=N1109K	ENST00000358913		ENSG00000138347	23246		41	2.455		HGNC	p.N1109K		MYPN		SNV			1				ENST00000358913	protein_coding	getma.org/?cm=var&var=hg19,10,69959166,T,A&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00408,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR19897,PROSITE_profiles:PS50835		N/K		A	medium	3815/6013		getma.org/?cm=msa&ty=f&p=MYPN_HUMAN&rb=1073&re=1163&var=N1109K	deleterious(0)	A5PKT7_HUMAN			YES	MYPN,missense_variant,p.Asn1109Lys,ENST00000358913,NM_032578.3,NM_001256267.1;MYPN,missense_variant,p.Asn1109Lys,ENST00000540630,;MYPN,missense_variant,p.Asn834Lys,ENST00000354393,;							MODERATE	3327/3963	N1109K	MYPN_HUMAN			Transcript		possibly_damaging(0.902)	.	ENSP00000351790		CCDS7275.1			1	
CCZ1	0	LGGM	GRCh37	7	5965268	5965268	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105106	H105106N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	30	4	.	.	ENST00000325974.6:c.1399G>T	p.Val467Phe	p.V467F	ENST00000325974	NM_015622.5	467	Gtc/Ttc	0	1	1	UPI000006CEFF	0	NA	ENST00000325974		ENSG00000122674	21691		34	1.735		HGNC	p.V324F		CCZ1		SNV							ENST00000537980	protein_coding	getma.org/?cm=var&var=hg19,7,5965268,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08217,hmmpanther:PTHR13056		V/F		T	low	1465/1802		getma.org/?cm=msa&ty=f&p=CCZ1B_HUMAN&rb=401&re=482&var=V467F	deleterious(0)	Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1,missense_variant,p.Val467Phe,ENST00000325974,NM_015622.5;CCZ1,missense_variant,p.Val324Phe,ENST00000537980,;RSPH10B,3_prime_UTR_variant,,ENST00000539903,;RSPH10B,downstream_gene_variant,,ENST00000405415,;RSPH10B,downstream_gene_variant,,ENST00000404406,NM_173565.3;RSPH10B,downstream_gene_variant,,ENST00000337579,;RSPH10B,downstream_gene_variant,,ENST00000441023,;CCZ1,non_coding_transcript_exon_variant,,ENST00000496860,;RSPH10B,downstream_gene_variant,,ENST00000535104,;CCZ1,non_coding_transcript_exon_variant,,ENST00000474507,;							MODERATE	1399/1449	V467F	CCZ1_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000325681		CCDS34597.1			1	
KIAA1211	0	LGGM	GRCh37	4	57181684	57181684	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H105106	H105106N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	21	5	.	.	ENST00000504228.1:c.2016G>A	p.Arg672=	p.R672=	ENST00000504228		672	cgG/cgA	0	1		UPI0000237309	0		ENST00000264229		ENSG00000109265	29219		26			HGNC	p.R672R		KIAA1211		SNV							ENST00000504228	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		R		A		2407/4109								KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;							LOW	2016/3702		K1211_HUMAN			Transcript			.	ENSP00000264229		CCDS43230.1			1	
ZNF592	0	LGGM	GRCh37	15	85326779	85326779	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105106	H105106N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	77	10	.	.	ENST00000299927.3:c.873G>T	p.Leu291Phe	p.L291F	ENST00000299927		291	ttG/ttT	0	1	1	UPI000013E5FC	0	NA	ENST00000299927		ENSG00000166716	28986		87	1.87		HGNC	p.L291F		ZNF592		SNV			1				ENST00000560079	protein_coding	getma.org/?cm=var&var=hg19,15,85326779,G,T&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199		L/F		T	low	895/7861		getma.org/?cm=msa&ty=f&p=ZN592_HUMAN&rb=201&re=400&var=L291F	deleterious(0)				YES	ZNF592,missense_variant,p.Leu291Phe,ENST00000299927,;ZNF592,missense_variant,p.Leu291Phe,ENST00000560079,NM_014630.2;ZNF592,missense_variant,p.Leu291Phe,ENST00000559607,;							MODERATE	873/3804	L291F	ZN592_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000299927		CCDS32317.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H105106	H105106N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105106N.bam, H105106T.bam	Illumina HiSeq	90	45	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			135		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
SHANK2	0	LGGM	GRCh37	11	70830041	70830041	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	12	2	.	.	ENST00000338508.4:c.245T>C	p.Val82Ala	p.V82A	ENST00000338508		82	gTt/gCt	0	1	1	UPI00020653A9	0		ENST00000338508		ENSG00000162105	14295		14			HGNC	p.V82A		SHANK2		SNV			1				ENST00000338508	protein_coding			hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		V/A		G		245/8987			tolerated(0.53)	C9JFP8_HUMAN,A6NHU9_HUMAN			YES	SHANK2,missense_variant,p.Val82Ala,ENST00000338508,;SHANK2,missense_variant,p.Val82Ala,ENST00000413503,;SHANK2,missense_variant,p.Val82Ala,ENST00000457074,;							MODERATE	245/5553					Transcript		benign(0.138)	.	ENSP00000345193					1	
PCED1B	0	LGGM	GRCh37	12	47629501	47629501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	10	2	.	.	ENST00000546455.1:c.655C>A	p.Arg219Ser	p.R219S	ENST00000546455	NM_138371.2	219	Cgc/Agc	0	1		UPI000006E8D2	0	NA	ENST00000432328		ENSG00000179715	28255		12	2.2		HGNC	p.R219S		PCED1B		SNV							ENST00000432328	protein_coding	getma.org/?cm=var&var=hg19,12,47629501,C,A&fts=all		Superfamily_domains:SSF52266,Pfam_domain:PF13839,hmmpanther:PTHR14469,Gene3D:3.40.50.1110,hmmpanther:PTHR14469:SF1		R/S		A	medium	1133/2071		getma.org/?cm=msa&ty=f&p=F113B_HUMAN&rb=4&re=251&var=R219S	deleterious(0)	F8VYL8_HUMAN,F8VUZ9_HUMAN,F8VUD2_HUMAN,F8VRF7_HUMAN				PCED1B,missense_variant,p.Arg219Ser,ENST00000546455,NM_138371.2;PCED1B,missense_variant,p.Arg219Ser,ENST00000432328,;PCED1B,missense_variant,p.Arg99Ser,ENST00000548348,;PCED1B,downstream_gene_variant,,ENST00000549500,;PCED1B,downstream_gene_variant,,ENST00000549630,;PCED1B,downstream_gene_variant,,ENST00000551777,;RP11-493L12.3,downstream_gene_variant,,ENST00000547748,;							MODERATE	655/1299	R219S	PED1B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000396040		CCDS8752.1			1	
CPAMD8	0	LGGM	GRCh37	19	17085972	17085972	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	9	2	.	.	ENST00000443236.1:c.2146C>A	p.Arg716Ser	p.R716S	ENST00000443236	NM_015692.2	716	Cgc/Agc	0	1	1	UPI0000E8AC99	0	NA	ENST00000443236		ENSG00000160111	23228		11	1.59		HGNC	p.R716S		CPAMD8		SNV							ENST00000443236	protein_coding	getma.org/?cm=var&var=hg19,19,17085972,G,T&fts=all		hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF76		R/S		T	low	2178/5992		getma.org/?cm=msa&ty=f&p=CPMD8_HUMAN&rb=627&re=749&var=R669S	tolerated(0.12)				YES	CPAMD8,missense_variant,p.Arg716Ser,ENST00000443236,NM_015692.2;CPAMD8,missense_variant,p.Arg455Ser,ENST00000388925,;CPAMD8,non_coding_transcript_exon_variant,,ENST00000593420,;CPAMD8,missense_variant,p.Arg502Ser,ENST00000291440,;CPAMD8,upstream_gene_variant,,ENST00000602159,;							MODERATE	2146/5799	R669S	CPMD8_HUMAN			Transcript		possibly_damaging(0.72)	.	ENSP00000402505		CCDS42519.1			1	
PPFIBP1	0	LGGM	GRCh37	12	27817378	27817378	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	20	2	.	.	ENST00000318304.8:c.1042+8A>G		p.X348_splice	ENST00000318304	NM_177444.2			0	1	1	UPI00004565E6	0		ENST00000318304		ENSG00000110841	9249		22			HGNC	p.K178K		PPFIBP1		SNV							ENST00000540114	protein_coding							G		-/6001				F5H6Q7_HUMAN			YES	PPFIBP1,splice_region_variant,,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,splice_region_variant,p.=,ENST00000228425,NM_003622.3;PPFIBP1,splice_region_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,splice_region_variant,,ENST00000542629,;PPFIBP1,splice_region_variant,p.=,ENST00000540114,;PPFIBP1,splice_region_variant,p.=,ENST00000537261,;							LOW	-/3036		LIPB1_HUMAN			Transcript			.	ENSP00000314724		CCDS55812.1			1	
DENND1C	0	LGGM	GRCh37	19	6467878	6467878	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	10	2	.	.	ENST00000381480.2:c.2043T>C	p.Leu681=	p.L681=	ENST00000381480	NM_024898.2	681	ctT/ctC	0	1	1	UPI000007469C	0		ENST00000381480		ENSG00000205744	26225		12			HGNC	p.L681L		DENND1C		SNV							ENST00000381480	protein_coding			hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF21		L		G		2156/2816				K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN			YES	DENND1C,synonymous_variant,p.=,ENST00000381480,NM_024898.2;DENND1C,synonymous_variant,p.=,ENST00000543576,;CRB3,downstream_gene_variant,,ENST00000598494,;CRB3,downstream_gene_variant,,ENST00000600229,NM_139161.3;CRB3,downstream_gene_variant,,ENST00000356762,NM_174881.2;CRB3,downstream_gene_variant,,ENST00000308243,;SLC25A23,upstream_gene_variant,,ENST00000597307,;DENND1C,3_prime_UTR_variant,,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590444,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590818,;DENND1C,downstream_gene_variant,,ENST00000591795,;							LOW	2043/2406		DEN1C_HUMAN			Transcript			.	ENSP00000370889		CCDS45938.1			1	
DOPEY2	0	LGGM	GRCh37	21	37612164	37612164	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	3	2	.	.	ENST00000399151.3:c.2978C>A	p.Ala993Asp	p.A993D	ENST00000399151	NM_005128.2	993	gCt/gAt	0	1	1	UPI000013D876	0	NA	ENST00000399151		ENSG00000142197	1291		5	1.545		HGNC	p.A993D		DOPEY2		SNV							ENST00000399151	protein_coding	getma.org/?cm=var&var=hg19,21,37612164,C,A&fts=all		hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042		A/D		A	low	3063/7685		getma.org/?cm=msa&ty=f&p=DOP2_HUMAN&rb=915&re=1027&var=A993D	deleterious(0)	F8W8U9_HUMAN			YES	DOPEY2,missense_variant,p.Ala993Asp,ENST00000399151,NM_005128.2;							MODERATE	2978/6897	A993D	DOP2_HUMAN			Transcript		possibly_damaging(0.564)	.	ENSP00000382104		CCDS13643.1			1	
HOXB3	0	LGGM	GRCh37	17	46629702	46629702	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	14	2	.	.	ENST00000470495.1:c.135C>A	p.Gly45=	p.G45=	ENST00000470495		45	ggC/ggA	0	1		UPI00001AEFBF	0		ENST00000311626		ENSG00000120093	5114		16			HGNC	p.G45G		HOXB3		SNV							ENST00000498678	protein_coding			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF10		G		T		1032/2642				C9J2I3_HUMAN,B7ZAD0_HUMAN,B7Z5N8_HUMAN				HOXB3,synonymous_variant,p.=,ENST00000470495,;HOXB3,synonymous_variant,p.=,ENST00000311626,NM_002146.4;HOXB3,synonymous_variant,p.=,ENST00000498678,;HOXB3,synonymous_variant,p.=,ENST00000476342,;HOXB3,5_prime_UTR_variant,,ENST00000472863,;HOXB3,5_prime_UTR_variant,,ENST00000489475,;HOXB3,5_prime_UTR_variant,,ENST00000471459,;HOXB3,intron_variant,,ENST00000460160,;HOXB3,intron_variant,,ENST00000485909,;HOXB3,intron_variant,,ENST00000490677,;HOXB3,downstream_gene_variant,,ENST00000465120,;HOXB-AS3,intron_variant,,ENST00000465846,;HOXB-AS2,upstream_gene_variant,,ENST00000464382,;HOXB-AS1,downstream_gene_variant,,ENST00000435312,;HOXB-AS1,downstream_gene_variant,,ENST00000502764,;HOXB-AS1,downstream_gene_variant,,ENST00000508688,;HOXB3,downstream_gene_variant,,ENST00000478644,;							LOW	135/1296		HXB3_HUMAN			Transcript			.	ENSP00000308252		CCDS11528.1			1	
ADNP	0	LGGM	GRCh37	20	49509101	49509101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	45	3	.	.	ENST00000396029.3:c.2150G>A	p.Arg717His	p.R717H	ENST00000396029	NM_015339.2	717	cGc/cAc	0	1		UPI00000375B9	0	NA	ENST00000349014		ENSG00000101126	15766	0.000173	48	1.355		HGNC	p.R717H	rs756595568	ADNP	0.000182	SNV			1				ENST00000396032	protein_coding	getma.org/?cm=var&var=hg19,20,49509101,C,T&fts=all		hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1		R/H		T	low	2447/5963	3.00E-05	getma.org/?cm=msa&ty=f&p=ADNP_HUMAN&rb=601&re=764&var=R717H	deleterious(0.01)	E9PQK8_HUMAN				ADNP,missense_variant,p.Arg717His,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,missense_variant,p.Arg717His,ENST00000371602,;ADNP,missense_variant,p.Arg717His,ENST00000349014,NM_001282532.1;ADNP,missense_variant,p.Arg717His,ENST00000396032,NM_181442.1;ADNP,downstream_gene_variant,,ENST00000534467,;							MODERATE	2150/3309	R717H	ADNP_HUMAN			Transcript		benign(0.374)	.	ENSP00000342905	5.77E-05	CCDS13433.1			1	
ST8SIA2	0	LGGM	GRCh37	15	92987895	92987895	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	45	3	.	.	ENST00000268164.3:c.578C>T	p.Ala193Val	p.A193V	ENST00000268164	NM_006011.3	193	gCc/gTc	0	1	1	UPI0000135970	0	getma.org/pdb.php?prot=SIA8B_HUMAN&from=105&to=370&var=A193V	ENST00000268164		ENSG00000140557	10870	8.64E-05	48	1.19		HGNC	p.A172V		ST8SIA2		SNV							ENST00000539113	protein_coding	getma.org/?cm=var&var=hg19,15,92987895,C,T&fts=all		PIRSF_domain:PIRSF005557,Pfam_domain:PF00777,hmmpanther:PTHR11987:SF30,hmmpanther:PTHR11987		A/V		T	low	815/5708		getma.org/?cm=msa&ty=f&p=SIA8B_HUMAN&rb=105&re=370&var=A193V		B2R9U8_HUMAN			YES	ST8SIA2,missense_variant,p.Ala193Val,ENST00000268164,NM_006011.3;ST8SIA2,missense_variant,p.Ala172Val,ENST00000539113,;ST8SIA2,missense_variant,p.Ala150Val,ENST00000555434,;ST8SIA2,non_coding_transcript_exon_variant,,ENST00000556382,;							MODERATE	578/1128	A193V	SIA8B_HUMAN			Transcript		benign(0.016)	.	ENSP00000268164	8.24E-06	CCDS10372.1			1	
BTN3A2	0	LGGM	GRCh37	6	26368867	26368867	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	42	3	.	.	ENST00000356386.2:c.160C>A	p.Leu54Met	p.L54M	ENST00000356386	NM_007047.4	54	Ctg/Atg	0	1	1	UPI000006E484	0	getma.org/pdb.php?prot=BT3A2_HUMAN&from=30&to=143&var=L54M	ENST00000356386		ENSG00000186470	1139		45	2.87		HGNC	p.L54M		BTN3A2		SNV							ENST00000527417	protein_coding	getma.org/?cm=var&var=hg19,6,26368867,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF45,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		L/M		A	medium	348/3017		getma.org/?cm=msa&ty=f&p=BT3A2_HUMAN&rb=30&re=143&var=L54M	deleterious(0)	E9PRX1_HUMAN,E9PRR1_HUMAN			YES	BTN3A2,missense_variant,p.Leu54Met,ENST00000356386,NM_007047.4,NM_001197247.2,NM_001197246.2;BTN3A2,missense_variant,p.Leu54Met,ENST00000377708,;BTN3A2,missense_variant,p.Leu12Met,ENST00000508906,NM_001197249.2;BTN3A2,missense_variant,p.Leu54Met,ENST00000396948,;BTN3A2,missense_variant,p.Leu54Met,ENST00000527422,;BTN3A2,missense_variant,p.Leu31Met,ENST00000396934,NM_001197248.2;BTN3A2,missense_variant,p.Leu12Met,ENST00000532865,;BTN3A2,missense_variant,p.Leu54Met,ENST00000527417,;BTN3A2,missense_variant,p.Leu12Met,ENST00000530653,;BTN3A2,upstream_gene_variant,,ENST00000527639,;AL021917.1,upstream_gene_variant,,ENST00000401160,;BTN3A2,intron_variant,,ENST00000532994,;BTN3A2,intron_variant,,ENST00000524682,;BTN3A2,intron_variant,,ENST00000532627,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000528222,;BTN3A2,non_coding_transcript_exon_variant,,ENST00000528541,;BTN3A2,intron_variant,,ENST00000524459,;BTN3A2,upstream_gene_variant,,ENST00000604202,;BTN3A2,upstream_gene_variant,,ENST00000531055,;BTN3A2,upstream_gene_variant,,ENST00000532294,;							MODERATE	160/1005	L54M	BT3A2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000348751		CCDS4605.1			1	
TLE6	0	LGGM	GRCh37	19	2986859	2986859	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	30	3	.	.	ENST00000246112.4:c.255C>A	p.Cys85Ter	p.C85*	ENST00000246112	NM_001143986.1	85	tgC/tgA	0	1	1	UPI000059D62B	0	NA	ENST00000246112		ENSG00000104953	30788		33	0		HGNC	p.C85X		TLE6		SNV							ENST00000246112	protein_coding	getma.org/?cm=var&var=hg19,19,2986859,C,A&fts=all				C/*		A	NA	456/2095		NA		K7ENW8_HUMAN,C9J532_HUMAN			YES	TLE6,stop_gained,p.Cys85Ter,ENST00000246112,NM_001143986.1;TLE6,stop_gained,p.Cys85Ter,ENST00000453329,;TLE6,5_prime_UTR_variant,,ENST00000452088,NM_024760.2;TLE6,non_coding_transcript_exon_variant,,ENST00000478073,;TLE6,non_coding_transcript_exon_variant,,ENST00000468176,;TLE6,non_coding_transcript_exon_variant,,ENST00000591953,;TLE6,non_coding_transcript_exon_variant,,ENST00000474207,;TLE6,upstream_gene_variant,,ENST00000497878,;TLE6,upstream_gene_variant,,ENST00000469572,;							HIGH	255/1719	C85*	TLE6_HUMAN			Transcript			.	ENSP00000246112		CCDS45910.1			1	
PIWIL3	0	LGGM	GRCh37	22	25119122	25119122	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	44	3	.	.	ENST00000332271.5:c.2359G>T	p.Asp787Tyr	p.D787Y	ENST00000332271	NM_001255975.1	787	Gat/Tat	0	1	1	UPI00002073D6	0	getma.org/pdb.php?prot=PIWL3_HUMAN&from=578&to=868&var=D787Y	ENST00000332271		ENSG00000184571	18443		47	3.79		HGNC	p.D787Y		PIWIL3		SNV							ENST00000332271	protein_coding	getma.org/?cm=var&var=hg19,22,25119122,C,A&fts=all		PROSITE_profiles:PS50822,hmmpanther:PTHR22892:SF28,hmmpanther:PTHR22892,Gene3D:3.30.420.10,Pfam_domain:PF02171,SMART_domains:SM00950,Superfamily_domains:SSF53098		D/Y		A	high	2776/3504		getma.org/?cm=msa&ty=f&p=PIWL3_HUMAN&rb=578&re=868&var=D787Y	deleterious(0)				YES	PIWIL3,missense_variant,p.Asp787Tyr,ENST00000332271,NM_001255975.1,NM_001008496.3;PIWIL3,missense_variant,p.Asp669Tyr,ENST00000533313,;PIWIL3,missense_variant,p.Asp669Tyr,ENST00000527701,;PIWIL3,non_coding_transcript_exon_variant,,ENST00000532537,;							MODERATE	2359/2649	D787Y	PIWL3_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000330031		CCDS33623.1			1	
GAS2L1	0	LGGM	GRCh37	22	29704376	29704376	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	5	3	.	.	ENST00000341313.6:c.281C>A	p.Pro94His	p.P94H	ENST00000341313		94	cCt/cAt	0	1	1	UPI0000161439	0	getma.org/pdb.php?prot=GA2L1_HUMAN&from=30&to=148&var=P94H	ENST00000341313		ENSG00000185340	16955		8	2.095		HGNC	p.P94H		GAS2L1		SNV							ENST00000428622	protein_coding	getma.org/?cm=var&var=hg19,22,29704376,C,A&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF123,SMART_domains:SM00033,Superfamily_domains:SSF47576		P/H		A	medium	413/2237		getma.org/?cm=msa&ty=f&p=GA2L1_HUMAN&rb=30&re=148&var=P94H	deleterious(0.03)	C9JRR6_HUMAN,C9JFI0_HUMAN,B4DWX4_HUMAN			YES	GAS2L1,missense_variant,p.Pro94His,ENST00000471961,;GAS2L1,missense_variant,p.Pro94His,ENST00000407647,;GAS2L1,missense_variant,p.Pro94His,ENST00000403764,NM_006478.4;GAS2L1,missense_variant,p.Pro94His,ENST00000407854,NM_152236.2;GAS2L1,missense_variant,p.Pro94His,ENST00000360113,;GAS2L1,missense_variant,p.Pro94His,ENST00000341313,;GAS2L1,missense_variant,p.Pro94His,ENST00000406549,NM_001278730.1;GAS2L1,missense_variant,p.Pro94His,ENST00000416823,;GAS2L1,missense_variant,p.Pro94His,ENST00000428622,;RASL10A,downstream_gene_variant,,ENST00000401450,;RASL10A,downstream_gene_variant,,ENST00000216101,NM_006477.4;GAS2L1,upstream_gene_variant,,ENST00000491016,;GAS2L1,downstream_gene_variant,,ENST00000487341,;							MODERATE	281/1014	P94H	GA2L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000344012					1	
MDGA1	0	LGGM	GRCh37	6	37626114	37626114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	30	3	.	.	ENST00000434837.3:c.289C>A	p.Arg97Ser	p.R97S	ENST00000434837	NM_153487.3	97	Cgt/Agt	0	1	1	UPI0000071D28	0	getma.org/pdb.php?prot=MDGA1_HUMAN&from=41&to=126&var=R97S	ENST00000434837		ENSG00000112139	19267		33	0.375		HGNC	p.R97S		MDGA1		SNV							ENST00000297153	protein_coding	getma.org/?cm=var&var=hg19,6,37626114,G,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00408,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF66,PROSITE_profiles:PS50835		R/S		T	neutral	1468/8898		getma.org/?cm=msa&ty=f&p=MDGA1_HUMAN&rb=41&re=126&var=R97S	tolerated(0.18)	D6RHU8_HUMAN,D6RFG6_HUMAN			YES	MDGA1,missense_variant,p.Arg97Ser,ENST00000297153,;MDGA1,missense_variant,p.Arg97Ser,ENST00000434837,NM_153487.3;MDGA1,missense_variant,p.Arg97Ser,ENST00000505425,;MDGA1,missense_variant,p.Arg41Ser,ENST00000515437,;MDGA1,missense_variant,p.Arg41Ser,ENST00000508399,;MDGA1,non_coding_transcript_exon_variant,,ENST00000478143,;							MODERATE	289/2868	R97S	MDGA1_HUMAN			Transcript		benign(0.23)	.	ENSP00000402584		CCDS47417.1			1	
VWDE	0	LGGM	GRCh37	7	12433334	12433334	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	31	3	.	.	ENST00000275358.3:c.129G>T	p.Trp43Cys	p.W43C	ENST00000275358	NM_001135924.1	43	tgG/tgT	0	1	1	UPI00006C0B98	0	NA	ENST00000275358		ENSG00000146530	21897		34	0.55		HGNC	p.W43C		VWDE		SNV							ENST00000275358	protein_coding	getma.org/?cm=var&var=hg19,7,12433334,C,A&fts=all				W/C		A	neutral	318/5260		getma.org/?cm=msa&ty=f&p=VWDE_HUMAN&rb=22&re=161&var=W43C	tolerated(0.13)				YES	VWDE,missense_variant,p.Trp43Cys,ENST00000275358,NM_001135924.1;VWDE,missense_variant,p.Trp43Cys,ENST00000452576,;VWDE,missense_variant,p.Trp43Cys,ENST00000521169,;VWDE,missense_variant,p.Trp43Cys,ENST00000326715,;							MODERATE	129/4773	W43C	VWDE_HUMAN			Transcript		benign(0.067)	.	ENSP00000275358		CCDS47544.1			1	
BPIFA3	0	LGGM	GRCh37	20	31811709	31811709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	43	3	.	.	ENST00000375454.3:c.220C>A	p.Pro74Thr	p.P74T	ENST00000375454	NM_178466.3	74	Cca/Aca	0	1	1	UPI00003E72D6	0	NA	ENST00000375454		ENSG00000131059	16204		46	0.975		HGNC	p.P74T		BPIFA3		SNV							ENST00000375454	protein_coding	getma.org/?cm=var&var=hg19,20,31811709,C,A&fts=all		Pfam_domain:PF01273,hmmpanther:PTHR10504,hmmpanther:PTHR10504:SF3		P/T		A	low	430/1116		getma.org/?cm=msa&ty=f&p=BPIA3_HUMAN&rb=1&re=200&var=P74T	tolerated(0.07)				YES	BPIFA3,missense_variant,p.Pro74Thr,ENST00000375454,NM_178466.3;BPIFA3,missense_variant,p.Pro74Thr,ENST00000375452,NM_001042439.1;BPIFA3,non_coding_transcript_exon_variant,,ENST00000490499,;BPIFA3,non_coding_transcript_exon_variant,,ENST00000471233,;							MODERATE	220/765	P74T	BPIA3_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000364603		CCDS13216.2			1	
DDX24	0	LGGM	GRCh37	14	94517612	94517612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	40	3	.	.	ENST00000330836.5:c.2505G>T	p.Lys835Asn	p.K835N	ENST00000330836	NM_020414.3	835	aaG/aaT	0	1	1	UPI0000129082	0	NA	ENST00000330836		ENSG00000089737	13266		43	0.975		HGNC	p.K792N		DDX24		SNV							ENST00000555054	protein_coding	getma.org/?cm=var&var=hg19,14,94517612,C,A&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF91,Low_complexity_(Seg):seg		K/N		A	low	2637/2981		getma.org/?cm=msa&ty=f&p=DDX24_HUMAN&rb=683&re=859&var=K835N	tolerated(0.14)	G3V529_HUMAN,F5GYL3_HUMAN			YES	DDX24,missense_variant,p.Lys835Asn,ENST00000330836,NM_020414.3;DDX24,missense_variant,p.Lys792Asn,ENST00000555054,;DDX24,missense_variant,p.Lys585Asn,ENST00000544005,;OTUB2,downstream_gene_variant,,ENST00000203664,NM_023112.3;DDX24,splice_region_variant,,ENST00000553451,;DDX24,non_coding_transcript_exon_variant,,ENST00000553400,;DDX24,non_coding_transcript_exon_variant,,ENST00000555762,;DDX24,non_coding_transcript_exon_variant,,ENST00000556635,;							MODERATE	2505/2580	K835N	DDX24_HUMAN			Transcript		unknown(0)	.	ENSP00000328690		CCDS9918.1			1	
CABP5	0	LGGM	GRCh37	19	48543920	48543920	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	37	3	.	.	ENST00000293255.2:c.180G>T	p.Met60Ile	p.M60I	ENST00000293255	NM_019855.4	60	atG/atT	0	1	1	UPI0000126D6A	0	getma.org/pdb.php?prot=CABP5_HUMAN&from=32&to=60&var=M60I	ENST00000293255		ENSG00000105507	13714		40	1.445		HGNC	p.M60I		CABP5		SNV							ENST00000293255	protein_coding	getma.org/?cm=var&var=hg19,19,48543920,C,A&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF00036,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF60,SMART_domains:SM00054,Superfamily_domains:SSF47473		M/I		A	low	311/1257		getma.org/?cm=msa&ty=f&p=CABP5_HUMAN&rb=12&re=80&var=M60I	deleterious(0.02)				YES	CABP5,missense_variant,p.Met60Ile,ENST00000293255,NM_019855.4;CABP5,downstream_gene_variant,,ENST00000602032,;							MODERATE	180/522	M60I	CABP5_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000293255		CCDS12709.1			1	
CCDC171	0	LGGM	GRCh37	9	15777805	15777805	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	45	3	.	.	ENST00000380701.3:c.2879G>A	p.Arg960His	p.R960H	ENST00000380701	NM_173550.2	960	cGt/cAt	0	1	1	UPI000021C44B	0	NA	ENST00000380701		ENSG00000164989	29828	8.67E-05	48	0		HGNC	p.R960H	rs368853808	CCDC171	0.000483	SNV	A:0			9.65E-05			ENST00000297641	protein_coding	getma.org/?cm=var&var=hg19,9,15777805,G,A&fts=all	A:0.0008			R/H	A:0.0001	A	neutral	3207/6512	3.03E-05	getma.org/?cm=msa&ty=f&p=CC171_HUMAN&rb=801&re=1000&var=R960H	tolerated(0.54)	Q8NCV3_HUMAN	A:0	A:0	YES	CCDC171,missense_variant,p.Arg960His,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Arg960His,ENST00000297641,;CCDC171,missense_variant,p.Arg200His,ENST00000449575,;CCDC171,missense_variant,p.Arg14His,ENST00000432954,;RNU6-14P,upstream_gene_variant,,ENST00000384630,NR_046485.1;	0.000463	A:0.0002					MODERATE	2879/3981	R960H	CC171_HUMAN		A:0	Transcript		benign(0.001)	common_variant	ENSP00000370077	0.000132	CCDS6481.1		A:0	1	
INO80	0	LGGM	GRCh37	15	41362688	41362688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	44	3	.	.	ENST00000361937.3:c.1663G>T	p.Ala555Ser	p.A555S	ENST00000361937		555	Gcc/Tcc	0	1	1	UPI00001B6AFC	0	getma.org/pdb.php?prot=INO80_HUMAN&from=521&to=822&var=A555S	ENST00000361937		ENSG00000128908	26956		47	0.58		HGNC	p.A555S		INO80		SNV							ENST00000361937	protein_coding	getma.org/?cm=var&var=hg19,15,41362688,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00176,PROSITE_profiles:PS51192,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF213,SMART_domains:SM00487,Superfamily_domains:SSF52540		A/S		A	neutral	2088/6439		getma.org/?cm=msa&ty=f&p=INO80_HUMAN&rb=521&re=822&var=A555S	deleterious(0.03)	Q9NUK2_HUMAN			YES	INO80,missense_variant,p.Ala555Ser,ENST00000361937,;INO80,missense_variant,p.Ala555Ser,ENST00000401393,NM_017553.1;INO80,missense_variant,p.Ala555Ser,ENST00000558357,;INO80,non_coding_transcript_exon_variant,,ENST00000561172,;INO80,upstream_gene_variant,,ENST00000559995,;							MODERATE	1663/4671	A555S	INO80_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000355205		CCDS10071.1			1	
RASA1	0	LGGM	GRCh37	5	86681171	86681171	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	42	3	.	.	ENST00000274376.6:c.2812C>A	p.Gln938Lys	p.Q938K	ENST00000274376	NM_002890.2	938	Cag/Aag	0	1	1	UPI00001351F3	0	getma.org/pdb.php?prot=RASA1_HUMAN&from=769&to=942&var=Q938K	ENST00000274376		ENSG00000145715	9871		45	3.6		HGNC	p.Q771K		RASA1		SNV			1				ENST00000512763	protein_coding	getma.org/?cm=var&var=hg19,5,86681171,C,A&fts=all		Gene3D:1.10.506.10,Pfam_domain:PF00616,PROSITE_profiles:PS50018,hmmpanther:PTHR10194,SMART_domains:SM00323,Superfamily_domains:SSF48350		Q/K		A	high	3376/3752		getma.org/?cm=msa&ty=f&p=RASA1_HUMAN&rb=769&re=942&var=Q938K	deleterious(0.01)	B4DTL8_HUMAN			YES	RASA1,missense_variant,p.Gln761Lys,ENST00000456692,NM_022650.2;RASA1,missense_variant,p.Gln938Lys,ENST00000274376,NM_002890.2;RASA1,missense_variant,p.Gln771Lys,ENST00000512763,;RASA1,missense_variant,p.Gln772Lys,ENST00000506290,;RASA1,3_prime_UTR_variant,,ENST00000515800,;							MODERATE	2812/3144	Q938K	RASA1_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000274376		CCDS34200.1			1	
FBXL13	0	LGGM	GRCh37	7	102669141	102669141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	46	3	.	.	ENST00000313221.4:c.123G>T	p.Met41Ile	p.M41I	ENST00000313221	NM_145032.3	41	atG/atT	0	1	1	UPI000020F830	0	NA	ENST00000313221		ENSG00000161040	21658		49	2.125		HGNC	p.M41I		FBXL13		SNV							ENST00000456695	protein_coding	getma.org/?cm=var&var=hg19,7,102669141,C,A&fts=all				M/I		A	medium	550/2744		getma.org/?cm=msa&ty=f&p=FXL13_HUMAN&rb=1&re=200&var=M41I	tolerated(0.18)				YES	FBXL13,missense_variant,p.Met41Ile,ENST00000393772,NM_001287150.1;FBXL13,missense_variant,p.Met41Ile,ENST00000379308,;FBXL13,missense_variant,p.Met41Ile,ENST00000313221,NM_145032.3;FBXL13,missense_variant,p.Met41Ile,ENST00000436908,;FBXL13,missense_variant,p.Met41Ile,ENST00000379305,;FBXL13,missense_variant,p.Met41Ile,ENST00000455112,NM_001111038.1;FBXL13,missense_variant,p.Met41Ile,ENST00000379306,;FBXL13,missense_variant,p.Met41Ile,ENST00000456695,;FBXL13,missense_variant,p.Met131Ile,ENST00000440067,;RP11-645N11.3,upstream_gene_variant,,ENST00000447336,;FBXL13,intron_variant,,ENST00000471074,;FBXL13,missense_variant,p.Met131Ile,ENST00000448002,;							MODERATE	123/2208	M41I	FXL13_HUMAN			Transcript		benign(0.018)	.	ENSP00000321927		CCDS5726.1			1	
TET2	0	LGGM	GRCh37	4	106155289	106155289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	41	3	.	.	ENST00000380013.4:c.190C>A	p.Pro64Thr	p.P64T	ENST00000380013	NM_001127208.2	64	Ccc/Acc	0	1		UPI00001D75E4	0	NA	ENST00000380013		ENSG00000168769	25941		44	0.805		HGNC	p.P64T		TET2		SNV			1				ENST00000514870	protein_coding	getma.org/?cm=var&var=hg19,4,106155289,C,A&fts=all		hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF3		P/T		A	low	576/9679		getma.org/?cm=msa&ty=f&p=TET2_HUMAN&rb=1&re=200&var=P64T	deleterious(0.01)	E7EPB1_HUMAN,D6RE87_HUMAN				TET2,missense_variant,p.Pro85Thr,ENST00000513237,;TET2,missense_variant,p.Pro64Thr,ENST00000540549,;TET2,missense_variant,p.Pro64Thr,ENST00000545826,;TET2,missense_variant,p.Pro64Thr,ENST00000380013,NM_001127208.2;TET2,missense_variant,p.Pro64Thr,ENST00000305737,NM_017628.4;TET2,missense_variant,p.Pro64Thr,ENST00000394764,;TET2,missense_variant,p.Pro64Thr,ENST00000413648,;TET2,missense_variant,p.Pro64Thr,ENST00000514870,;TET2,missense_variant,p.Pro64Thr,ENST00000265149,;							MODERATE	190/6009	P64T	TET2_HUMAN			Transcript		possibly_damaging(0.743)	.	ENSP00000369351		CCDS47120.1			1	
MYH4	0	LGGM	GRCh37	17	10364362	10364362	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	38	3	.	.	ENST00000255381.2:c.1018G>T	p.Asp340Tyr	p.D340Y	ENST00000255381	NM_017533.2	340	Gac/Tac	0	1	1	UPI000013CEAB	0	getma.org/pdb.php?prot=MYH4_HUMAN&from=88&to=770&var=D340Y	ENST00000255381		ENSG00000264424	7574		41	4.105		HGNC	p.D340Y		MYH4		SNV							ENST00000255381	protein_coding	getma.org/?cm=var&var=hg19,17,10364362,C,A&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF278,SMART_domains:SM00242,Superfamily_domains:SSF52540		D/Y		A	high	1129/6016		getma.org/?cm=msa&ty=f&p=MYH4_HUMAN&rb=88&re=770&var=D340Y	deleterious(0)				YES	MYH4,missense_variant,p.Asp340Tyr,ENST00000255381,NM_017533.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	1018/5820	D340Y	MYH4_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000255381		CCDS11154.1			1	
CCKBR	0	LGGM	GRCh37	11	6292417	6292417	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	40	3	.	.	ENST00000334619.2:c.988C>A	p.Arg330Ser	p.R330S	ENST00000334619	NM_176875.3	330	Cgc/Agc	0	1	1	UPI0000000C18	0	getma.org/pdb.php?prot=GASR_HUMAN&from=71&to=390&var=R330S	ENST00000334619		ENSG00000110148	1571		43	2.88		HGNC	p.R399S		CCKBR		SNV							ENST00000525462	protein_coding	getma.org/?cm=var&var=hg19,11,6292417,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01822,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Superfamily_domains:SSF81321		R/S		A	medium	1181/2121		getma.org/?cm=msa&ty=f&p=GASR_HUMAN&rb=71&re=390&var=R330S	deleterious(0)				YES	CCKBR,missense_variant,p.Arg399Ser,ENST00000525462,;CCKBR,missense_variant,p.Arg330Ser,ENST00000334619,NM_176875.3;CCKBR,missense_variant,p.Arg246Ser,ENST00000532715,;CCKBR,downstream_gene_variant,,ENST00000525014,;CCKBR,downstream_gene_variant,,ENST00000531712,;CCKBR,non_coding_transcript_exon_variant,,ENST00000532396,;							MODERATE	988/1344	R330S	GASR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000335544		CCDS7761.1			1	
ITCH	0	LGGM	GRCh37	20	33028059	33028059	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	38	3	.	.	ENST00000262650.6:c.902C>A	p.Ala301Glu	p.A301E	ENST00000262650		301	gCa/gAa	0	1	1	UPI00000731C2	0	NA	ENST00000262650		ENSG00000078747	13890		41	0.55		HGNC	p.A301E		ITCH		SNV			1				ENST00000262650	protein_coding	getma.org/?cm=var&var=hg19,20,33028059,C,A&fts=all		PIRSF_domain:PIRSF001569,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF66		A/E		A	neutral	1038/3089		getma.org/?cm=msa&ty=f&p=ITCH_HUMAN&rb=280&re=327&var=A301E	tolerated(0.13)				YES	ITCH,missense_variant,p.Ala260Glu,ENST00000374864,NM_001257137.1,NM_031483.5,NM_001257138.1;ITCH,missense_variant,p.Ala301Glu,ENST00000262650,;ITCH,missense_variant,p.Ala150Glu,ENST00000535650,;ITCH-AS1,downstream_gene_variant,,ENST00000454205,;							MODERATE	902/2712	A301E	ITCH_HUMAN			Transcript		benign(0.06)	.	ENSP00000262650		CCDS58768.1			1	
CLCN3	0	LGGM	GRCh37	4	170611774	170611774	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	26	3	.	.	ENST00000347613.4:c.700C>A	p.Pro234Thr	p.P234T	ENST00000347613	NM_173872.3	234	Cca/Aca	0	1		UPI0000073E48	0	getma.org/pdb.php?prot=CLCN3_HUMAN&from=220&to=623&var=P234T	ENST00000513761		ENSG00000109572	2021		29	3.66		HGNC	p.P234T		CLCN3		SNV							ENST00000347613	protein_coding	getma.org/?cm=var&var=hg19,4,170611774,C,A&fts=all		Gene3D:1otsB00,Pfam_domain:PF00654,Prints_domain:PR00762,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Superfamily_domains:SSF81340,Transmembrane_helices:TMhelix		P/T		A	high	1259/6692		getma.org/?cm=msa&ty=f&p=CLCN3_HUMAN&rb=220&re=623&var=P234T	deleterious(0)	D6RIX3_HUMAN,D6RDZ6_HUMAN				CLCN3,missense_variant,p.Pro234Thr,ENST00000513761,NM_001829.3;CLCN3,missense_variant,p.Pro234Thr,ENST00000347613,NM_173872.3;CLCN3,missense_variant,p.Pro234Thr,ENST00000360642,NM_001243372.1;CLCN3,missense_variant,p.Pro217Thr,ENST00000504131,;CLCN3,missense_variant,p.Pro207Thr,ENST00000507875,NM_001243374.1;CLCN3,downstream_gene_variant,,ENST00000511092,;CLCN3,downstream_gene_variant,,ENST00000512813,;							MODERATE	700/2457	P234T	CLCN3_HUMAN			Transcript		possibly_damaging(0.596)	.	ENSP00000424603		CCDS34101.1			1	
EXOC6B	0	LGGM	GRCh37	2	72562112	72562112	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	39	3	.	.	ENST00000272427.6:c.2160G>T	p.Glu720Asp	p.E720D	ENST00000272427	NM_015189.1	720	gaG/gaT	0	1	1	UPI000046995C	0	getma.org/pdb.php?prot=EXC6B_HUMAN&from=464&to=772&var=E720D	ENST00000272427		ENSG00000144036	17085		42	-0.11		HGNC	p.E720D		EXOC6B		SNV							ENST00000272427	protein_coding	getma.org/?cm=var&var=hg19,2,72562112,C,A&fts=all		Pfam_domain:PF04091,PIRSF_domain:PIRSF025007,hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3		E/D		A	neutral	2291/5918		getma.org/?cm=msa&ty=f&p=EXC6B_HUMAN&rb=464&re=772&var=E720D	tolerated(0.53)	Q9H8D6_HUMAN			YES	EXOC6B,missense_variant,p.Glu720Asp,ENST00000272427,NM_015189.1;EXOC6B,non_coding_transcript_exon_variant,,ENST00000490919,;EXOC6B,non_coding_transcript_exon_variant,,ENST00000471335,;							MODERATE	2160/2436	E720D	EXC6B_HUMAN			Transcript		benign(0.013)	.	ENSP00000272427		CCDS46333.1			1	
LRP6	0	LGGM	GRCh37	12	12301904	12301904	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	94	4	.	.	ENST00000261349.4:c.3178C>A	p.Arg1060=	p.R1060=	ENST00000261349	NM_002336.2	1060	Cga/Aga	0	1	1	UPI00001FB66C	0		ENST00000261349		ENSG00000070018	6698		98			HGNC	p.R1060R		LRP6		SNV			1				ENST00000261349	protein_coding			Superfamily_domains:SSF63825,SMART_domains:SM00135,PIRSF_domain:PIRSF036314,Gene3D:2.120.10.30,hmmpanther:PTHR10529:SF109,hmmpanther:PTHR10529,PROSITE_profiles:PS51120		R		T		3255/10020				F5H0Z3_HUMAN,B3KQA9_HUMAN			YES	LRP6,synonymous_variant,p.=,ENST00000261349,NM_002336.2;LRP6,synonymous_variant,p.=,ENST00000543091,;LRP6,synonymous_variant,p.=,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;							LOW	3178/4842		LRP6_HUMAN			Transcript			.	ENSP00000261349		CCDS8647.1			1	
PRMT3	0	LGGM	GRCh37	11	20483699	20483699	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	80	4	.	.	ENST00000331079.6:c.1246C>A	p.Pro416Thr	p.P416T	ENST00000331079	NM_005788.3	416	Cct/Act	0	1	1	UPI0000198DED	0	getma.org/pdb.php?prot=ANM3_HUMAN&from=348&to=531&var=P416T	ENST00000331079		ENSG00000185238	30163		84	1.79		HGNC	p.P354T		PRMT3		SNV							ENST00000437750	protein_coding	getma.org/?cm=var&var=hg19,11,20483699,C,A&fts=all		PROSITE_profiles:PS51678,hmmpanther:PTHR11006:SF45,hmmpanther:PTHR11006,Gene3D:2.70.160.11,Superfamily_domains:SSF53335		P/T		A	low	1463/2653		getma.org/?cm=msa&ty=f&p=ANM3_HUMAN&rb=348&re=531&var=P416T					YES	PRMT3,missense_variant,p.Pro416Thr,ENST00000331079,NM_005788.3,NM_001145167.1;PRMT3,missense_variant,p.Pro354Thr,ENST00000437750,NM_001145166.1;PRMT3,3_prime_UTR_variant,,ENST00000330796,;PRMT3,non_coding_transcript_exon_variant,,ENST00000529592,;							MODERATE	1246/1596	P416T	ANM3_HUMAN			Transcript		benign(0.013)	.	ENSP00000331879		CCDS7853.1			1	
SHROOM2	0	LGGM	GRCh37	X	9905707	9905707	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	3	5	.	.	ENST00000380913.3:c.4121C>T	p.Pro1374Leu	p.P1374L	ENST00000380913	NM_001649.2	1374	cCt/cTt	0	1	1	UPI0000125D05	0	NA	ENST00000380913		ENSG00000146950	630		8	2.175		HGNC	p.P209L		SHROOM2		SNV							ENST00000418909	protein_coding	getma.org/?cm=var&var=hg19,X,9905707,C,T&fts=all		Pfam_domain:PF08687,PROSITE_profiles:PS51307,hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8		P/L		T	medium	4211/7447		getma.org/?cm=msa&ty=f&p=SHRM2_HUMAN&rb=1317&re=1610&var=P1374L	deleterious(0)	F5H3B6_HUMAN,C9IZC6_HUMAN			YES	SHROOM2,missense_variant,p.Pro1374Leu,ENST00000380913,NM_001649.2;SHROOM2,missense_variant,p.Pro209Leu,ENST00000418909,;SHROOM2,missense_variant,p.Pro209Leu,ENST00000452575,;SHROOM2,downstream_gene_variant,,ENST00000493668,;							MODERATE	4121/4851	P1374L	SHRM2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370299		CCDS14135.1			1	
PCDHGC5	0	LGGM	GRCh37	5	140869775	140869775	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	28	5	.	.	ENST00000252087.1:c.968G>A	p.Arg323His	p.R323H	ENST00000252087	NM_018929.2	323	cGt/cAt	0	1	1	UPI000006D689	0	getma.org/pdb.php?prot=PCDGM_HUMAN&from=248&to=341&var=R323H	ENST00000252087		ENSG00000240764	8718	0.00138	33	2.65		HGNC	p.R323H	rs745796427	PCDHGC5	0.000121	SNV							ENST00000252087	protein_coding	getma.org/?cm=var&var=hg19,5,140869775,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF80,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/H		A	medium	968/4641		getma.org/?cm=msa&ty=f&p=PCDGM_HUMAN&rb=248&re=341&var=R323H	tolerated(0.15)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGC5,missense_variant,p.Arg323His,ENST00000252087,NM_018929.2,NM_032403.2,NM_032407.1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGC3,intron_variant,,ENST00000308177,NM_002588.2,NM_032402.1;PCDHGC4,intron_variant,,ENST00000306593,NM_018928.2,NM_032406.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,NM_032054.1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,NM_032096.1;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,;							MODERATE	968/2835	R323H	PCDGM_HUMAN			Transcript		benign(0.322)	common_variant	ENSP00000252087	0.000148	CCDS4263.1			1	
ACTL9	0	LGGM	GRCh37	19	8808380	8808380	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	16	5	.	.	ENST00000324436.3:c.672G>A	p.Ala224=	p.A224=	ENST00000324436	NM_178525.3	224	gcG/gcA	0	1	1	UPI000014129E	0		ENST00000324436		ENSG00000181786	28494		21			HGNC	p.A224A	rs782063935	ACTL9		SNV							ENST00000324436	protein_coding			Superfamily_domains:SSF53067,SMART_domains:SM00268,Pfam_domain:PF00022,Gene3D:3.30.420.40,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF194		A		T		793/1422	1.53E-05						YES	ACTL9,synonymous_variant,p.=,ENST00000324436,NM_178525.3;							LOW	672/1251		ACTL9_HUMAN			Transcript			.	ENSP00000316674	8.24E-06	CCDS12207.1			1	
SF3B1	0	LGGM	GRCh37	2	198270150	198270150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	11	6	.	.	ENST00000335508.6:c.1286G>T	p.Arg429Leu	p.R429L	ENST00000335508	NM_012433.2	429	cGa/cTa	0	1	1	UPI000013D493	0	NA	ENST00000335508		ENSG00000115524	10768		17	2.315		HGNC	p.R429L		SF3B1		SNV			1				ENST00000335508	protein_coding	getma.org/?cm=var&var=hg19,2,198270150,C,A&fts=all		hmmpanther:PTHR12097,Pfam_domain:PF08920		R/L		A	medium	1378/6526		getma.org/?cm=msa&ty=f&p=SF3B1_HUMAN&rb=282&re=457&var=R429L	tolerated(0.08)	Q9NTB4_HUMAN,F8WC19_HUMAN			YES	SF3B1,missense_variant,p.Arg429Leu,ENST00000335508,NM_012433.2;SNORA4,downstream_gene_variant,,ENST00000365564,;SF3B1,upstream_gene_variant,,ENST00000462613,;SF3B1,downstream_gene_variant,,ENST00000470268,;SF3B1,downstream_gene_variant,,ENST00000468925,;							MODERATE	1286/3915	R429L	SF3B1_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000335321		CCDS33356.1			1	
FGFR4	0	LGGM	GRCh37	5	176519376	176519376	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	0	6	.	.	ENST00000292408.4:c.782C>T	p.Ala261Val	p.A261V	ENST00000292408	NM_213647.1	261	gCc/gTc	0	1	1	UPI000012A72D	0	getma.org/pdb.php?prot=FGFR4_HUMAN&from=253&to=350&var=A261V	ENST00000292408		ENSG00000160867	3691		6	-0.055		HGNC	p.A261V	rs769335792	FGFR4		SNV							ENST00000292410	protein_coding	getma.org/?cm=var&var=hg19,5,176519376,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF312,SMART_domains:SM00409,Superfamily_domains:SSF48726		A/V		T	neutral	1027/3122	1.77E-05	getma.org/?cm=msa&ty=f&p=FGFR4_HUMAN&rb=253&re=350&var=A261V	tolerated(0.71)	G3JVM2_HUMAN,E7EWF4_HUMAN,D6RJD4_HUMAN,D6RG06_HUMAN,D6R9V0_HUMAN			YES	FGFR4,missense_variant,p.Ala261Val,ENST00000292408,NM_213647.1,NM_002011.3;FGFR4,missense_variant,p.Ala261Val,ENST00000292410,;FGFR4,missense_variant,p.Ala261Val,ENST00000393648,;FGFR4,missense_variant,p.Ala261Val,ENST00000502906,;FGFR4,missense_variant,p.Ala261Val,ENST00000393637,NM_022963.2;FGFR4,upstream_gene_variant,,ENST00000511076,;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,,ENST00000509511,;FGFR4,non_coding_transcript_exon_variant,,ENST00000508139,;FGFR4,downstream_gene_variant,,ENST00000430285,;FGFR4,downstream_gene_variant,,ENST00000426612,;FGFR4,upstream_gene_variant,,ENST00000483872,;FGFR4,upstream_gene_variant,,ENST00000513423,;							MODERATE	782/2409	A261V	FGFR4_HUMAN			Transcript		possibly_damaging(0.498)	.	ENSP00000292408	8.24E-06	CCDS4410.1			1	
C10orf10	0	LGGM	GRCh37	10	45473441	45473441	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	23	6	.	.	ENST00000298295.3:c.38C>A	p.Pro13His	p.P13H	ENST00000298295	NM_007021.3	13	cCc/cAc	0	1	1	UPI000006E55C	0	NA	ENST00000298295		ENSG00000165507	23355		29	1.1		HGNC	p.P13H		C10orf10		SNV							ENST00000448778	protein_coding	getma.org/?cm=var&var=hg19,10,45473441,G,T&fts=all		hmmpanther:PTHR15426		P/H		T	low	256/2120		getma.org/?cm=msa&ty=f&p=DEPP_HUMAN&rb=1&re=211&var=P13H	deleterious(0)				YES	C10orf10,missense_variant,p.Pro13His,ENST00000298295,NM_007021.3;C10orf10,missense_variant,p.Pro13His,ENST00000448778,;RASSF4,intron_variant,,ENST00000340258,NM_032023.3;RASSF4,intron_variant,,ENST00000334940,;RASSF4,intron_variant,,ENST00000374417,;RASSF4,intron_variant,,ENST00000427758,;RASSF4,intron_variant,,ENST00000428466,;RASSF4,intron_variant,,ENST00000472561,;C10orf10,intron_variant,,ENST00000496638,;RASSF4,intron_variant,,ENST00000462822,;RASSF4,intron_variant,,ENST00000489171,;RASSF4,intron_variant,,ENST00000483709,;RASSF4,upstream_gene_variant,,ENST00000465735,;							MODERATE	38/639	P13H	DEPP_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000298295		CCDS7210.1			1	
SIGLEC5	0	LGGM	GRCh37	19	52131238	52131238	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	22	7	.	.	ENST00000429354.3:c.846C>A	p.Phe282Leu	p.F282L	ENST00000429354		282	ttC/ttA	0	1		UPI000011B40C	0	getma.org/pdb.php?prot=SIGL5_HUMAN&from=249&to=331&var=F282L	ENST00000534261		ENSG00000105501	10874		29	1.62		HGNC	p.F282L		SIGLEC5		SNV							ENST00000570106	protein_coding	getma.org/?cm=var&var=hg19,19,52131238,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF49,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		F/L		T	low	1246/2356		getma.org/?cm=msa&ty=f&p=SIGL5_HUMAN&rb=249&re=331&var=F282L	tolerated(0.17)					SIGLEC5,missense_variant,p.Phe282Leu,ENST00000222107,;SIGLEC5,missense_variant,p.Phe282Leu,ENST00000570106,NM_003830.3;SIGLEC5,missense_variant,p.Phe282Leu,ENST00000534261,;SIGLEC5,missense_variant,p.Phe282Leu,ENST00000429354,;SIGLEC5,missense_variant,p.Phe282Leu,ENST00000599649,;							MODERATE	846/1656	F282L	SIGL5_HUMAN			Transcript		benign(0.12)	.	ENSP00000473238		CCDS33088.1			1	
MYH13	0	LGGM	GRCh37	17	10206743	10206743	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	96	7	.	.	ENST00000418404.3:c.5539T>C	p.Tyr1847His	p.Y1847H	ENST00000418404		1847	Tac/Cac	0	1		UPI0000DB39EA	0	NA	ENST00000252172		ENSG00000006788	7571		103	1.45		HGNC	p.Y1847H		MYH13		SNV							ENST00000418404	protein_coding	getma.org/?cm=var&var=hg19,17,10206743,A,G&fts=all		hmmpanther:PTHR13140:SF267,hmmpanther:PTHR13140,Pfam_domain:PF01576,Superfamily_domains:SSF57997		Y/H		G	low	5629/5992		getma.org/?cm=msa&ty=f&p=MYH13_HUMAN&rb=1072&re=1930&var=Y1847H	tolerated(0.29)					MYH13,missense_variant,p.Tyr1847His,ENST00000418404,;MYH13,missense_variant,p.Tyr1847His,ENST00000252172,NM_003802.2;RP11-401O9.4,intron_variant,,ENST00000609088,;							MODERATE	5539/5817	Y1847H	MYH13_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000252172		CCDS45613.1			1	
DYRK4	0	LGGM	GRCh37	12	4714099	4714099	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	20	7	.	.	ENST00000540757.2:c.801C>G	p.Ser267Arg	p.S267R	ENST00000540757	NM_003845.1	267	agC/agG	0	1		UPI000006E05C	0	getma.org/pdb.php?prot=DYRK4_HUMAN&from=104&to=400&var=S267R	ENST00000010132		ENSG00000010219	3095		27	2.845		HGNC	p.S267R		DYRK4		SNV							ENST00000010132	protein_coding	getma.org/?cm=var&var=hg19,12,4714099,C,G&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,hmmpanther:PTHR24058:SF22,hmmpanther:PTHR24058,PROSITE_profiles:PS50011		S/R		G	medium	943/1816		getma.org/?cm=msa&ty=f&p=DYRK4_HUMAN&rb=104&re=400&var=S267R	deleterious(0)	D3JEN3_HUMAN,D3JEN2_HUMAN,B4DQW1_HUMAN				DYRK4,missense_variant,p.Ser267Arg,ENST00000540757,NM_003845.1,NM_001282286.1,NM_001282285.1;DYRK4,missense_variant,p.Ser267Arg,ENST00000010132,;DYRK4,missense_variant,p.Ser267Arg,ENST00000543431,;DYRK4,missense_variant,p.Ser382Arg,ENST00000542744,;DYRK4,upstream_gene_variant,,ENST00000545342,;DYRK4,non_coding_transcript_exon_variant,,ENST00000545571,;DYRK4,non_coding_transcript_exon_variant,,ENST00000540644,;RP11-500M8.7,upstream_gene_variant,,ENST00000536588,;DYRK4,upstream_gene_variant,,ENST00000536137,;RP11-234B24.5,upstream_gene_variant,,ENST00000538921,;							MODERATE	801/1563	S267R	DYRK4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000010132		CCDS8530.1			1	
KLF15	0	LGGM	GRCh37	3	126062671	126062671	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	7	7	.	.	ENST00000296233.3:c.1150C>A	p.Pro384Thr	p.P384T	ENST00000296233	NM_014079.3	384	Cct/Act	0	1	1	UPI0000001659	0	getma.org/pdb.php?prot=KLF15_HUMAN&from=367&to=392&var=P384T	ENST00000296233		ENSG00000163884	14536		14	0.985		HGNC	p.P384T		KLF15		SNV							ENST00000296233	protein_coding	getma.org/?cm=var&var=hg19,3,126062671,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23223,hmmpanther:PTHR23223:SF146,SMART_domains:SM00355,Superfamily_domains:SSF57667		P/T		T	low	1381/2574		getma.org/?cm=msa&ty=f&p=KLF15_HUMAN&rb=347&re=412&var=P384T	tolerated(0.24)				YES	KLF15,missense_variant,p.Pro384Thr,ENST00000296233,NM_014079.3;							MODERATE	1150/1251	P384T	KLF15_HUMAN			Transcript		benign(0.266)	.	ENSP00000296233		CCDS3036.1			1	
SYTL2	0	LGGM	GRCh37	11	85435429	85435429	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	39	8	.	.	ENST00000354566.3:c.2071G>T	p.Gly691Ter	p.G691*	ENST00000354566	NM_206927.2	691	Gga/Tga	0	1		UPI0001AADE5A	0	NA	ENST00000528231		ENSG00000137501	15585		47	0		HGNC	p.G1215X		SYTL2		SNV							ENST00000359152	protein_coding	getma.org/?cm=var&var=hg19,11,85435429,C,A&fts=all						A	NA	-/3536		NA		Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,stop_gained,p.Gly1215Ter,ENST00000359152,NM_206928.2;SYTL2,stop_gained,p.Gly691Ter,ENST00000525423,;SYTL2,stop_gained,p.Gly691Ter,ENST00000354566,NM_206927.2;SYTL2,stop_gained,p.Gly110Ter,ENST00000530351,;SYTL2,intron_variant,,ENST00000316356,;SYTL2,intron_variant,,ENST00000389960,NM_032943.3;SYTL2,intron_variant,,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,intron_variant,,ENST00000527523,;SYTL2,intron_variant,,ENST00000524452,;SYTL2,stop_gained,p.Gly691Ter,ENST00000389959,;							MODIFIER	-/2805	G110*	SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
PRRC1	0	LGGM	GRCh37	5	126887570	126887570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	17	9	.	.	ENST00000296666.8:c.1300G>A	p.Gly434Ser	p.G434S	ENST00000296666	NM_130809.3	434	Ggc/Agc	0	1	1	UPI0000073C8E	0	NA	ENST00000296666		ENSG00000164244	28164		26	1.725		HGNC	p.E434K	rs763374051	PRRC1	0.000242	SNV							ENST00000512535	protein_coding	getma.org/?cm=var&var=hg19,5,126887570,G,A&fts=all		Superfamily_domains:SSF52972,Gene3D:3.90.950.10,hmmpanther:PTHR23276,hmmpanther:PTHR23276:SF1		G/S		A	low	1488/4699		getma.org/?cm=msa&ty=f&p=PRRC1_HUMAN&rb=379&re=445&var=G434S	tolerated(0.05)				YES	PRRC1,missense_variant,p.Gly434Ser,ENST00000296666,NM_130809.3;PRRC1,missense_variant,p.Asp434Asn,ENST00000512635,NM_001286808.1;PRRC1,3_prime_UTR_variant,,ENST00000442138,;PRRC1,non_coding_transcript_exon_variant,,ENST00000513427,;							MODERATE	1300/1338	G434S	PRRC1_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000296666	3.29E-05	CCDS4143.1			1	
IL32	0	LGGM	GRCh37	16	3119304	3119305	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	G	novel	by Submitter	H105140	H105140N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	30	10	.	.	ENST00000525643.2:c.515_516insG	p.Asp172GlufsTer12	p.D172Efs*12	ENST00000525643		172	gac/gaGc	0	1		UPI0000070836	0		ENST00000396890		ENSG00000008517	16830		40			HGNC	p.D172fs	rs398100042	IL32		insertion							ENST00000528163	protein_coding					D/EX		G		730-731/1067				F8VSD2_HUMAN,E9PIV2_HUMAN,C6GKH2_HUMAN				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,;							HIGH	653-654/705		IL32_HUMAN			Transcript			.	ENSP00000380099					1	
NAV3	0	LGGM	GRCh37	12	78522611	78522611	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	41	11	.	.	ENST00000536525.2:c.4406C>G	p.Ser1469Cys	p.S1469C	ENST00000536525	NM_014903.4	1469	tCt/tGt	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		52	0.6		HGNC	p.S1292C		NAV3		SNV							ENST00000266692	protein_coding	getma.org/?cm=var&var=hg19,12,78522611,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		S/C		G	neutral	4579/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=670&re=1929&var=S1469C	tolerated(0.23)	F8VZV4_HUMAN				NAV3,missense_variant,p.Ser1469Cys,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Ser1469Cys,ENST00000228327,;NAV3,missense_variant,p.Ser1292Cys,ENST00000266692,;NAV3,missense_variant,p.Ser1469Cys,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Ser364Cys,ENST00000552895,;NAV3,missense_variant,p.Ser98Cys,ENST00000550788,;RP11-136F16.2,downstream_gene_variant,,ENST00000418757,;							MODERATE	4406/7158	S1469C	NAV3_HUMAN			Transcript		benign(0.003)	.	ENSP00000381007		CCDS66432.1			1	
IRX1	0	LGGM	GRCh37	5	3600166	3600166	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	26	11	.	.	ENST00000302006.3:c.1104C>T	p.Ile368=	p.I368=	ENST00000302006	NM_024337.3	368	atC/atT	0	1	1	UPI00001B6455	0		ENST00000302006		ENSG00000170549	14358	0.000283	37			HGNC	p.I368I	rs559167392	IRX1		SNV							ENST00000302006	protein_coding		T:0	hmmpanther:PTHR11211:SF13,hmmpanther:PTHR11211		I		T		1156/1858	2.50E-05				T:0	T:0	YES	IRX1,synonymous_variant,p.=,ENST00000302006,NM_024337.3;CTD-2012M11.3,non_coding_transcript_exon_variant,,ENST00000559410,;		T:0.0002					LOW	1104/1443		IRX1_HUMAN		T:0.001	Transcript			.	ENSP00000305244	2.47E-05	CCDS34132.1		T:0	1	
EGLN1	0	LGGM	GRCh37	1	231509829	231509829	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H105140	H105140N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	51	12	.	.	ENST00000366641.3:c.908A>G	p.Tyr303Cys	p.Y303C	ENST00000366641	NM_022051.2	303	tAt/tGt	0	1	1	UPI0000050C90	0	getma.org/pdb.php?prot=EGLN1_HUMAN&from=298&to=391&var=Y303C	ENST00000366641		ENSG00000135766	1232		63	4.54		HGNC	p.Y303C		EGLN1		SNV			1				ENST00000366641	protein_coding	getma.org/?cm=var&var=hg19,1,231509829,T,C&fts=all		Pfam_domain:PF13640,PROSITE_profiles:PS51471,hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF4,SMART_domains:SM00702		Y/C		C	high	4064/7097		getma.org/?cm=msa&ty=f&p=EGLN1_HUMAN&rb=298&re=391&var=Y303C	deleterious(0)	R4SCQ0_HUMAN,Q9NTU9_HUMAN			YES	EGLN1,missense_variant,p.Tyr303Cys,ENST00000366641,NM_022051.2;EGLN1,non_coding_transcript_exon_variant,,ENST00000476717,;							MODERATE	908/1281	Y303C	EGLN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355601		CCDS1595.1			1	
MCTP2	0	LGGM	GRCh37	15	94841715	94841715	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	31	13	.	.	ENST00000357742.4:c.221C>T	p.Ser74Phe	p.S74F	ENST00000357742	NM_018349.3	74	tCc/tTc	0	1	1	UPI0000D613A2	0	NA	ENST00000357742		ENSG00000140563	25636		44	0.895		HGNC	p.S74F		MCTP2		SNV			1				ENST00000456504	protein_coding	getma.org/?cm=var&var=hg19,15,94841715,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5		S/F		T	low	221/3965		getma.org/?cm=msa&ty=f&p=MCTP2_HUMAN&rb=1&re=195&var=S74F	tolerated(0.28)	Q9NPN6_HUMAN			YES	MCTP2,missense_variant,p.Ser74Phe,ENST00000357742,NM_018349.3;MCTP2,missense_variant,p.Ser74Phe,ENST00000451018,NM_001159643.1;MCTP2,missense_variant,p.Ser74Phe,ENST00000543482,;MCTP2,5_prime_UTR_variant,,ENST00000331706,;MCTP2,non_coding_transcript_exon_variant,,ENST00000561608,;MCTP2,missense_variant,p.Ser74Phe,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000556363,;							MODERATE	221/2637	S74F	MCTP2_HUMAN			Transcript		benign(0.009)	.	ENSP00000350377		CCDS32338.1			1	
FLNC	0	LGGM	GRCh37	7	128478756	128478756	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	23	13	.	.	ENST00000325888.8:c.1310G>A	p.Arg437His	p.R437H	ENST00000325888	NM_001458.4	437	cGc/cAc	0	1	1	UPI000006DE6D	0	getma.org/pdb.php?prot=FLNC_HUMAN&from=372&to=465&var=R437H	ENST00000325888		ENSG00000128591	3756		36	2.43		HGNC	p.R437H	rs370138936	FLNC	6.06E-05	SNV	A:0		1				ENST00000325888	protein_coding	getma.org/?cm=var&var=hg19,7,128478756,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296		R/H	A:0.0001	A	medium	1571/9188	0.000108	getma.org/?cm=msa&ty=f&p=FLNC_HUMAN&rb=372&re=465&var=R437H	deleterious(0.02)	Q59H94_HUMAN,B3KM41_HUMAN			YES	FLNC,missense_variant,p.Arg437His,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Arg437His,ENST00000346177,NM_001127487.1;FLNC,upstream_gene_variant,,ENST00000388853,;	0.00035						MODERATE	1310/8178	R437H	FLNC_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000327145	9.08E-05	CCDS43644.1			1	
NUP133	0	LGGM	GRCh37	1	229625844	229625844	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	17	14	.	.	ENST00000261396.3:c.1052G>A	p.Gly351Glu	p.G351E	ENST00000261396	NM_018230.2	351	gGg/gAg	0	1	1	UPI000013D17A	0	getma.org/pdb.php?prot=NU133_HUMAN&from=74&to=472&var=G351E	ENST00000261396		ENSG00000069248	18016		31	2.34		HGNC	p.G335E		NUP133		SNV							ENST00000537506	protein_coding	getma.org/?cm=var&var=hg19,1,229625844,C,T&fts=all		Superfamily_domains:SSF117289,Gene3D:2.130.10.10,Pfam_domain:PF08801,hmmpanther:PTHR13405:SF11,hmmpanther:PTHR13405		G/E		T	medium	1144/4169		getma.org/?cm=msa&ty=f&p=NU133_HUMAN&rb=74&re=472&var=G351E	deleterious(0)				YES	NUP133,missense_variant,p.Gly351Glu,ENST00000261396,NM_018230.2;NUP133,missense_variant,p.Gly335Glu,ENST00000537506,;							MODERATE	1052/3471	G351E	NU133_HUMAN			Transcript		possibly_damaging(0.802)	.	ENSP00000261396		CCDS1579.1			1	
LMNB2	0	LGGM	GRCh37	19	2438180	2438180	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	19	15	.	.	ENST00000325327.3:c.665G>T	p.Arg222Leu	p.R222L	ENST00000325327		222	cGg/cTg	0	1		UPI000012E207	0	NA	ENST00000582871		ENSG00000176619	6638		34	-0.09		HGNC	p.R202L		LMNB2		SNV			1				ENST00000582871	protein_coding	getma.org/?cm=var&var=hg19,19,2438180,C,A&fts=all		Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF152		R/L		A	neutral	692/4634		getma.org/?cm=msa&ty=f&p=LMNB2_HUMAN&rb=25&re=381&var=R202L	deleterious(0)					LMNB2,missense_variant,p.Arg222Leu,ENST00000325327,;LMNB2,missense_variant,p.Arg202Leu,ENST00000582871,NM_032737.3;LMNB2,upstream_gene_variant,,ENST00000527409,;LMNB2,upstream_gene_variant,,ENST00000532465,;LMNB2,upstream_gene_variant,,ENST00000534495,;LMNB2,upstream_gene_variant,,ENST00000490554,;							MODERATE	605/1803	R202L	LMNB2_HUMAN			Transcript		possibly_damaging(0.699)	.	ENSP00000462730					1	
KMT2E	0	LGGM	GRCh37	7	104748038	104748038	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	21	15	.	.	ENST00000311117.3:c.3134A>G	p.Asp1045Gly	p.D1045G	ENST00000311117	NM_182931.2	1045	gAc/gGc	0	1		UPI0000074133	0	NA	ENST00000257745		ENSG00000005483	18541		36	0.695		HGNC	p.D1045G		KMT2E		SNV							ENST00000334877	protein_coding	getma.org/?cm=var&var=hg19,7,104748038,A,G&fts=all		hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9		D/G		G	neutral	3520/6714		getma.org/?cm=msa&ty=f&p=MLL5_HUMAN&rb=848&re=1047&var=D1045G	tolerated_low_confidence(0.06)	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN				KMT2E,missense_variant,p.Asp1045Gly,ENST00000334877,;KMT2E,missense_variant,p.Asp1045Gly,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Asp1045Gly,ENST00000257745,NM_018682.3;KMT2E,missense_variant,p.Asp100Gly,ENST00000334914,;KMT2E,downstream_gene_variant,,ENST00000479838,;KMT2E,upstream_gene_variant,,ENST00000473063,;CTB-152G17.6,upstream_gene_variant,,ENST00000607968,;SRPK2,downstream_gene_variant,,ENST00000493638,;KMT2E,3_prime_UTR_variant,,ENST00000334884,;KMT2E,upstream_gene_variant,,ENST00000478079,;							MODERATE	3134/5577	D1045G	KMT2E_HUMAN			Transcript		possibly_damaging(0.539)	.	ENSP00000257745		CCDS34723.1			1	
HSDL2	0	LGGM	GRCh37	9	115166316	115166316	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	46	16	.	.	ENST00000398805.3:c.59G>C	p.Arg20Pro	p.R20P	ENST00000398805	NM_032303.4	20	cGt/cCt	0	1	1	UPI0000039E52	0	getma.org/pdb.php?prot=HSDL2_HUMAN&from=11&to=187&var=R20P	ENST00000398805		ENSG00000119471	18572		62	4.285		HGNC	p.R20P		HSDL2		SNV							ENST00000398803	protein_coding	getma.org/?cm=var&var=hg19,9,115166316,G,C&fts=all		Prints_domain:PR00081,Superfamily_domains:SSF51735,Pfam_domain:PF00106,Gene3D:3.40.50.720,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF273		R/P		C	high	286/3350		getma.org/?cm=msa&ty=f&p=HSDL2_HUMAN&rb=11&re=187&var=R20P	deleterious(0)	B4E136_HUMAN,B4DWC7_HUMAN			YES	HSDL2,missense_variant,p.Arg20Pro,ENST00000398805,NM_032303.4;HSDL2,missense_variant,p.Arg20Pro,ENST00000398803,NM_001195822.1;HSDL2,5_prime_UTR_variant,,ENST00000539114,;HSDL2,intron_variant,,ENST00000262542,;HSDL2,intron_variant,,ENST00000488101,;HSDL2,intron_variant,,ENST00000467434,;							MODERATE	59/1257	R20P	HSDL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000381785		CCDS43864.1			1	
DAB1	0	LGGM	GRCh37	1	57499247	57499247	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	12	17	.	.	ENST00000371236.2:c.724-7531G>C		*242*	ENST00000371236				0	1		UPI000040DC2E	0		ENST00000371231		ENSG00000173406	2661		29			HGNC	-		DAB1		SNV							ENST00000439789	protein_coding							G		-/1802				Q8NFD0_HUMAN				DAB1,splice_acceptor_variant,,ENST00000420954,;DAB1,splice_acceptor_variant,,ENST00000371231,;DAB1,splice_acceptor_variant,,ENST00000414851,;DAB1,splice_acceptor_variant,,ENST00000439789,;DAB1,splice_acceptor_variant,,ENST00000371232,;DAB1,intron_variant,,ENST00000371236,;DAB1,intron_variant,,ENST00000371234,NM_021080.3;DAB1,intron_variant,,ENST00000485760,;							HIGH	724/1767		DAB1_HUMAN			Transcript			.	ENSP00000360275					1	
ASXL1	0	LGGM	GRCh37	20	31023408	31023408	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	21	18	.	.	ENST00000375687.4:c.2893C>T	p.Arg965Ter	p.R965*	ENST00000375687	NM_015338.5	965	Cga/Tga	0	1	1	UPI000036702C	0	NA	ENST00000375687	pathogenic	ENSG00000171456	18318		39	0		HGNC	p.R965X	rs397515401,COSM267971	ASXL1		SNV			1			1,1	ENST00000375687	protein_coding	getma.org/?cm=var&var=hg19,20,31023408,C,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF19		R/*		T	NA	3317/7031		NA					YES	ASXL1,stop_gained,p.Arg965Ter,ENST00000375687,NM_015338.5;ASXL1,stop_gained,p.Arg960Ter,ENST00000306058,;ASXL1,downstream_gene_variant,,ENST00000553345,;ASXL1,downstream_gene_variant,,ENST00000555564,;					0,1		HIGH	2893/4626	R965*	ASXL1_HUMAN			Transcript			.	ENSP00000364839		CCDS13201.1			1	
CTD-3074O7.11	0	LGGM	GRCh37	11	66283015	66283015	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	12	21	.	.	ENST00000318312.7:c.437G>A	p.Arg146Gln	p.R146Q	ENST00000318312	NM_024649.4	146	cGa/cAa	0	1		UPI000006E494	0	NA	ENST00000419755		ENSG00000256349			33	0.6		Clone_based_vega_gene	p.R146Q	rs759253107	CTD-3074O7.11		SNV							ENST00000318312	protein_coding	getma.org/?cm=var&var=hg19,11,66283015,G,A&fts=all		Pfam_domain:PF14779,hmmpanther:PTHR20870,hmmpanther:PTHR20870:SF0		R/Q		A	neutral	626/3547	1.50E-05	getma.org/?cm=msa&ty=f&p=BBS1_HUMAN&rb=1&re=591&var=R146Q	tolerated(0.73)	E9PQD9_HUMAN,E9PPR3_HUMAN			YES	CTD-3074O7.11,missense_variant,p.Arg183Gln,ENST00000419755,;BBS1,missense_variant,p.Arg146Gln,ENST00000318312,NM_024649.4;BBS1,missense_variant,p.Arg146Gln,ENST00000393994,;BBS1,missense_variant,p.Arg55Gln,ENST00000525809,;BBS1,missense_variant,p.Arg53Gln,ENST00000524705,;BBS1,intron_variant,,ENST00000455748,;BBS1,intron_variant,,ENST00000537537,;BBS1,downstream_gene_variant,,ENST00000526815,;BBS1,non_coding_transcript_exon_variant,,ENST00000529766,;BBS1,non_coding_transcript_exon_variant,,ENST00000529953,;BBS1,3_prime_UTR_variant,,ENST00000526760,;BBS1,3_prime_UTR_variant,,ENST00000527251,;BBS1,3_prime_UTR_variant,,ENST00000526035,;BBS1,non_coding_transcript_exon_variant,,ENST00000533430,;BBS1,non_coding_transcript_exon_variant,,ENST00000524907,;BBS1,non_coding_transcript_exon_variant,,ENST00000534730,;BBS1,intron_variant,,ENST00000529955,;BBS1,intron_variant,,ENST00000533557,;BBS1,intron_variant,,ENST00000532908,;BBS1,intron_variant,,ENST00000533644,;BBS1,intron_variant,,ENST00000524458,;BBS1,upstream_gene_variant,,ENST00000532283,;BBS1,upstream_gene_variant,,ENST00000528543,;	0.000231						MODERATE	548/1893	R146Q				Transcript		benign(0.002)	.	ENSP00000398526	2.47E-05				1	
KRTAP5-2	0	LGGM	GRCh37	11	1619173	1619202	+	inframe_deletion	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	novel	by Submitter	H105140	H105140N.bam	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	65	22	.	.	ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	p.Gly103_Gly112del	p.G103_G112del	ENST00000412090	NM_001004325.1	93	ggCTCCAAGGGGGGCTGTGGCTCCTGTGGGGGt/ggt	0	1	1	UPI0000241C20	0		ENST00000412090		ENSG00000205867	23597		87			HGNC	p.93_103del	rs760014834,COSM1352866	KRTAP5-2		deletion						0,1	ENST00000412090	protein_coding			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF29,Low_complexity_(Seg):seg		GSKGGCGSCGG/G		-		323-352/1116							YES	KRTAP5-2,inframe_deletion,p.Gly103_Gly112del,ENST00000412090,NM_001004325.1;KRTAP5-AS1,non_coding_transcript_exon_variant,,ENST00000424148,;KRTAP5-AS1,downstream_gene_variant,,ENST00000524947,;KRTAP5-AS1,downstream_gene_variant,,ENST00000532922,;KRTAP5-AS1,downstream_gene_variant,,ENST00000534077,;					0,1		MODERATE	279-308/534		KRA52_HUMAN			Transcript			.	ENSP00000400041		CCDS31331.1			1	
PHKA1	0	LGGM	GRCh37	X	71842967	71842967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	39	24	.	.	ENST00000373542.4:c.1952C>A	p.Thr651Asn	p.T651N	ENST00000373542	NM_002637.3	651	aCc/aAc	0	1	1	UPI000013D340	0	NA	ENST00000373542		ENSG00000067177	8925		63	0.205		HGNC	p.T651N		PHKA1		SNV			1				ENST00000373542	protein_coding	getma.org/?cm=var&var=hg19,X,71842967,G,T&fts=all		Pfam_domain:PF00723,hmmpanther:PTHR10749,hmmpanther:PTHR10749:SF4		T/N		T	neutral	2112/6020		getma.org/?cm=msa&ty=f&p=KPB1_HUMAN&rb=8&re=922&var=T651N	tolerated(0.49)				YES	PHKA1,missense_variant,p.Thr651Asn,ENST00000373545,;PHKA1,missense_variant,p.Thr651Asn,ENST00000339490,NM_001122670.1;PHKA1,missense_variant,p.Thr651Asn,ENST00000373542,NM_002637.3;PHKA1,missense_variant,p.Thr651Asn,ENST00000541944,NM_001172436.1;PHKA1,missense_variant,p.Thr651Asn,ENST00000373539,;							MODERATE	1952/3672	T651N	KPB1_HUMAN			Transcript		benign(0.003)	.	ENSP00000362643		CCDS14421.1			1	
TAS2R3	0	LGGM	GRCh37	7	141464385	141464385	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	56	26	.	.	ENST00000247879.2:c.427G>T	p.Gly143Cys	p.G143C	ENST00000247879	NM_016943.2	143	Ggt/Tgt	0	1	1	UPI0000038B0B	0	NA	ENST00000247879		ENSG00000127362	14910		82	-0.345		HGNC	p.G143C		TAS2R3		SNV							ENST00000247879	protein_coding	getma.org/?cm=var&var=hg19,7,141464385,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF49,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		G/C		T	neutral	489/1101		getma.org/?cm=msa&ty=f&p=TA2R3_HUMAN&rb=1&re=303&var=G143C	tolerated(0.23)	Q50KY9_HUMAN			YES	TAS2R3,missense_variant,p.Gly143Cys,ENST00000247879,NM_016943.2;SSBP1,intron_variant,,ENST00000465582,;							MODERATE	427/951	G143C	TA2R3_HUMAN			Transcript		benign(0.055)	.	ENSP00000247879		CCDS5867.1			1	
NOS1	0	LGGM	GRCh37	12	117768313	117768313	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	34	26	.	.	ENST00000338101.4:c.562G>A	p.Ala188Thr	p.A188T	ENST00000338101		188	Gcg/Acg	0	1		UPI0000130397	0	NA	ENST00000317775		ENSG00000089250	7872	8.65E-05	60	0.55		HGNC	p.A188T	rs529671468,COSM246067	NOS1	0.000303	SNV			1			0,1	ENST00000338101	protein_coding	getma.org/?cm=var&var=hg19,12,117768313,C,T&fts=all	T:0	PIRSF_domain:PIRSF000333		A/T		T	neutral	1248/12158	1.52E-05	getma.org/?cm=msa&ty=f&p=NOS1_HUMAN&rb=97&re=215&var=A188T	tolerated_low_confidence(0.63)	B3VK56_HUMAN,A0PJJ7_HUMAN	T:0	T:0.001		NOS1,missense_variant,p.Ala188Thr,ENST00000317775,NM_000620.4,NM_001204218.1;NOS1,missense_variant,p.Ala188Thr,ENST00000344089,NM_001204213.1,NM_001204214.1;NOS1,missense_variant,p.Ala188Thr,ENST00000338101,;NOS1,downstream_gene_variant,,ENST00000549189,;	0.000116	T:0.0002			0,1		MODERATE	562/4305	A188T	NOS1_HUMAN		T:0	Transcript		benign(0)	.	ENSP00000320758	6.62E-05	CCDS41842.1		T:0	1	
KRT32	0	LGGM	GRCh37	17	39619249	39619249	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	38	27	.	.	ENST00000225899.3:c.1050G>A	p.Gln350=	p.Q350=	ENST00000225899	NM_002278.3	350	caG/caA	0	1	1	UPI000013C883	0		ENST00000225899		ENSG00000108759	6449		65			HGNC	p.Q350Q		KRT32		SNV							ENST00000225899	protein_coding			hmmpanther:PTHR23239:SF155,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593,Prints_domain:PR01248		Q		T		1154/1750							YES	KRT32,synonymous_variant,p.=,ENST00000225899,NM_002278.3;RNU2-32P,upstream_gene_variant,,ENST00000411193,;							LOW	1050/1347		K1H2_HUMAN			Transcript			.	ENSP00000225899		CCDS11393.1			1	
EDNRA	0	LGGM	GRCh37	4	148407158	148407158	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	28	30	.	.	ENST00000324300.5:c.325A>C	p.Lys109Gln	p.K109Q	ENST00000324300	NM_001957.3	109	Aaa/Caa	0	1	1	UPI00000503F9	0	getma.org/pdb.php?prot=EDNRA_HUMAN&from=97&to=370&var=K109Q	ENST00000324300		ENSG00000151617	3179		58	2.43		HGNC	p.K109Q		EDNRA		SNV			1				ENST00000324300	protein_coding	getma.org/?cm=var&var=hg19,4,148407158,A,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24243:SF31,hmmpanther:PTHR24243,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00366		K/Q		C	medium	840/4135		getma.org/?cm=msa&ty=f&p=EDNRA_HUMAN&rb=97&re=370&var=K109Q	deleterious(0)				YES	EDNRA,missense_variant,p.Lys109Gln,ENST00000324300,NM_001957.3;EDNRA,missense_variant,p.Lys109Gln,ENST00000339690,;EDNRA,missense_variant,p.Lys109Gln,ENST00000358556,NM_001166055.1;EDNRA,missense_variant,p.Lys109Gln,ENST00000506066,;EDNRA,intron_variant,,ENST00000511804,NM_001256283.1;EDNRA,non_coding_transcript_exon_variant,,ENST00000514245,;EDNRA,missense_variant,p.Lys109Gln,ENST00000510697,;							MODERATE	325/1284	K109Q	EDNRA_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000315011		CCDS3769.1			1	
GGNBP2	0	LGGM	GRCh37	17	34935735	34935735	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H105140	H105140N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	95	36	.	.	ENST00000304718.4:c.906G>C	p.Leu302Phe	p.L302F	ENST00000304718	NM_024835.4	302	ttG/ttC	0	1	1	UPI00000728CB	0	NA	ENST00000304718		ENSG00000005955	19357		131	1.895		HGNC	p.L302F		GGNBP2		SNV							ENST00000304718	protein_coding	getma.org/?cm=var&var=hg19,17,34935735,G,C&fts=all		hmmpanther:PTHR13601		L/F		C	low	1222/2847		getma.org/?cm=msa&ty=f&p=GGNB2_HUMAN&rb=201&re=325&var=L302F	deleterious(0)	K7ELA8_HUMAN,B4DWN7_HUMAN			YES	GGNBP2,missense_variant,p.Leu302Phe,ENST00000304718,NM_024835.4;GGNBP2,non_coding_transcript_exon_variant,,ENST00000486208,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000495023,;GGNBP2,non_coding_transcript_exon_variant,,ENST00000483256,;CTB-75G16.1,upstream_gene_variant,,ENST00000486628,;CTB-75G16.1,upstream_gene_variant,,ENST00000414616,;							MODERATE	906/2094	L302F	GGNB2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000307617		CCDS11314.1			1	
IFNA7	0	LGGM	GRCh37	9	21201795	21201795	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H105140	H105140N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	110	49	.	.	ENST00000239347.3:c.370A>G	p.Ile124Val	p.I124V	ENST00000239347	NM_021057.2	124	Ata/Gta	0	1	1	UPI000004775E	0	getma.org/pdb.php?prot=IFNA7_HUMAN&from=26&to=187&var=I124V	ENST00000239347		ENSG00000214042	5428		159	0.045		HGNC	p.I124V		IFNA7		SNV							ENST00000239347	protein_coding	getma.org/?cm=var&var=hg19,9,21201795,T,C&fts=all		hmmpanther:PTHR11691:SF29,hmmpanther:PTHR11691,Pfam_domain:PF00143,Gene3D:1.20.1250.10,SMART_domains:SM00076,Superfamily_domains:SSF47266		I/V		C	neutral	410/737		getma.org/?cm=msa&ty=f&p=IFNA7_HUMAN&rb=26&re=187&var=I124V	tolerated(0.6)				YES	IFNA7,missense_variant,p.Ile124Val,ENST00000239347,NM_021057.2;IFNA10,downstream_gene_variant,,ENST00000357374,NM_002171.1;							MODERATE	370/570	I124V	IFNA7_HUMAN			Transcript		benign(0.001)	.	ENSP00000239347		CCDS34995.1			1	
TRIM64B	0	LGGM	GRCh37	11	89604047	89604047	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H105140	H105140N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	144	52	.	.	ENST00000329862.6:c.1092T>A	p.Asp364Glu	p.D364E	ENST00000329862	NM_001164397.1	364	gaT/gaA	0	1	1	UPI0001662600	0	getma.org/pdb.php?prot=TR64B_HUMAN&from=337&to=449&var=D364E	ENST00000329862		ENSG00000189253	37147		196	1.43		HGNC	p.D364E		TRIM64B		SNV							ENST00000329862	protein_coding	getma.org/?cm=var&var=hg19,11,89604047,A,T&fts=all		Pfam_domain:PF00622,Prints_domain:PR01407,PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF307,SMART_domains:SM00449,Superfamily_domains:SSF49899		D/E		T	low	1092/2689		getma.org/?cm=msa&ty=f&p=TR64B_HUMAN&rb=337&re=449&var=D364E	tolerated(0.2)	I1YAQ0_HUMAN			YES	TRIM64B,missense_variant,p.Asp364Glu,ENST00000329862,NM_001164397.1,NM_001136486.1;							MODERATE	1092/1350	D364E	TR64B_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000332969		CCDS53693.1			1	
KCNU1	0	LGGM	GRCh37	8	36691098	36691098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	133	76	.	.	ENST00000399881.3:c.1133C>T	p.Thr378Ile	p.T378I	ENST00000399881	NM_001031836.2	378	aCc/aTc	0	1	1	UPI0000F079EF	0	getma.org/pdb.php?prot=KCNU1_HUMAN&from=339&to=482&var=T378I	ENST00000399881		ENSG00000215262	18867		209	1.61		HGNC	p.T378I		KCNU1		SNV							ENST00000399881	protein_coding	getma.org/?cm=var&var=hg19,8,36691098,C,T&fts=all		Prints_domain:PR01449,Gene3D:3.40.50.720,hmmpanther:PTHR10027:SF23,hmmpanther:PTHR10027		T/I		T	low	1170/3695		getma.org/?cm=msa&ty=f&p=KCNU1_HUMAN&rb=339&re=482&var=T378I	tolerated(0.07)				YES	KCNU1,missense_variant,p.Thr378Ile,ENST00000399881,NM_001031836.2;KCNU1,missense_variant,p.Thr378Ile,ENST00000522372,;							MODERATE	1133/3450	T378I	KCNU1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000382770		CCDS55220.1			1	
TLR7	0	LGGM	GRCh37	X	12905241	12905241	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H105140	H105140N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	175	89	.	.	ENST00000380659.3:c.1614C>A	p.Phe538Leu	p.F538L	ENST00000380659	NM_016562.3	538	ttC/ttA	0	1	1	UPI000004BAF6	0	NA	ENST00000380659		ENSG00000196664	15631		264	1.57		HGNC	p.F538L		TLR7		SNV							ENST00000380659	protein_coding	getma.org/?cm=var&var=hg19,X,12905241,C,A&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24365:SF222,hmmpanther:PTHR24365,PROSITE_profiles:PS51450		F/L		A	low	1753/5011		getma.org/?cm=msa&ty=f&p=TLR7_HUMAN&rb=496&re=554&var=F538L	tolerated(0.07)	B2R9N9_HUMAN			YES	TLR7,missense_variant,p.Phe538Leu,ENST00000380659,NM_016562.3;							MODERATE	1614/3150	F538L	TLR7_HUMAN			Transcript		benign(0.319)	.	ENSP00000370034		CCDS14151.1			1	
GLB1L2	0	LGGM	GRCh37	11	134217227	134217227	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H105140	H105140N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H105140N.bam, H105140T.bam	Illumina HiSeq	91	145	.	.	ENST00000535456.2:c.458T>C	p.Leu153Pro	p.L153P	ENST00000535456	NM_138342.3	153	cTc/cCc	0	1		UPI0000074534	0	getma.org/pdb.php?prot=GLBL2_HUMAN&from=53&to=368&var=L153P	ENST00000339772		ENSG00000149328	25129		236	3.205		HGNC	p.L153P		GLB1L2		SNV							ENST00000339772	protein_coding	getma.org/?cm=var&var=hg19,11,134217227,T,C&fts=all		Gene3D:3.20.20.80,Pfam_domain:PF01301,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF53,Superfamily_domains:SSF51445		L/P		C	medium	646/3152		getma.org/?cm=msa&ty=f&p=GLBL2_HUMAN&rb=53&re=368&var=L153P	deleterious(0)	Q8NCG3_HUMAN				GLB1L2,missense_variant,p.Leu153Pro,ENST00000535456,NM_138342.3;GLB1L2,missense_variant,p.Leu153Pro,ENST00000389881,;GLB1L2,missense_variant,p.Leu153Pro,ENST00000339772,;GLB1L2,missense_variant,p.Leu92Pro,ENST00000525089,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,upstream_gene_variant,,ENST00000531081,;							MODERATE	458/1911	L153P	GLBL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000344659		CCDS31724.1			1	
AIPL1	0	LGGM	GRCh37	17	6329909	6329909	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	2	2	.	.	ENST00000381129.3:c.784+26G>T		*262*	ENST00000381129	NM_014336.3			0	1	1	UPI0000125741	0		ENST00000381129		ENSG00000129221	359		4			HGNC	p.Q270H		AIPL1		SNV			1				ENST00000575265	protein_coding							A		-/2959				F1T0C0_HUMAN,F1T0B6_HUMAN			YES	AIPL1,missense_variant,p.Gln270His,ENST00000575265,;AIPL1,missense_variant,p.Gln262His,ENST00000571740,NM_001285403.2;AIPL1,intron_variant,,ENST00000381129,NM_014336.3,NM_001033055.1;AIPL1,intron_variant,,ENST00000250087,NM_001033054.1;AIPL1,intron_variant,,ENST00000574506,NM_001285399.2;AIPL1,intron_variant,,ENST00000570466,NM_001285400.2;AIPL1,intron_variant,,ENST00000576776,NM_001285401.2;AIPL1,intron_variant,,ENST00000576307,;AIPL1,intron_variant,,ENST00000570584,;AIPL1,downstream_gene_variant,,ENST00000574913,;AIPL1,intron_variant,,ENST00000381128,NM_001285402.1;							MODIFIER	-/1155		AIPL1_HUMAN			Transcript			.	ENSP00000370521		CCDS11075.1			1	
FAM47B	0	LGGM	GRCh37	X	34961920	34961920	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	45	3	.	.	ENST00000329357.5:c.972C>A	p.Pro324=	p.P324=	ENST00000329357	NM_152631.2	324	ccC/ccA	0	1	1	UPI000013F47B	0		ENST00000329357		ENSG00000189132	26659		48			HGNC	p.P324P		FAM47B		SNV							ENST00000329357	protein_coding			hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF192,Pfam_domain:PF14642		P		A		1008/2122							YES	FAM47B,synonymous_variant,p.=,ENST00000329357,NM_152631.2;							LOW	972/1938		FA47B_HUMAN			Transcript			.	ENSP00000328307		CCDS14236.1			1	
MLLT3	0	LGGM	GRCh37	9	20353522	20353522	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000380338.4:c.1575+1G>T		p.X525_splice	ENST00000380338	NM_004529.2			0	1	1	UPI00002111CB	0		ENST00000380338		ENSG00000171843	7136		44			HGNC	-		MLLT3		SNV			1				ENST00000380338	protein_coding							A		-/6772				Q6LEQ8_HUMAN,B1APT5_HUMAN			YES	MLLT3,splice_donor_variant,,ENST00000380338,NM_004529.2;MLLT3,splice_donor_variant,,ENST00000429426,NM_001286691.1;MLLT3,splice_donor_variant,,ENST00000380321,;MLLT3,intron_variant,,ENST00000355930,;MLLT3,splice_donor_variant,,ENST00000488705,;MLLT3,intron_variant,,ENST00000380323,;MLLT3,intron_variant,,ENST00000469261,;							HIGH	1575/1707		AF9_HUMAN			Transcript			.	ENSP00000369695		CCDS6494.1			1	
TMEM63A	0	LGGM	GRCh37	1	226036257	226036257	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	20	3	.	.	ENST00000366835.3:c.2188-2A>C		p.X730_splice	ENST00000366835	NM_014698.2			0	1	1	UPI000006DE50	0		ENST00000366835		ENSG00000196187	29118		23			HGNC	-		TMEM63A		SNV							ENST00000366835	protein_coding							G		-/4098				Q2HIZ8_HUMAN			YES	TMEM63A,splice_acceptor_variant,,ENST00000366835,NM_014698.2;EPHX1,downstream_gene_variant,,ENST00000366837,NM_000120.3;EPHX1,downstream_gene_variant,,ENST00000272167,NM_001136018.2;RP11-285F7.2,upstream_gene_variant,,ENST00000424332,;TMEM63A,splice_acceptor_variant,,ENST00000482753,;TMEM63A,upstream_gene_variant,,ENST00000496025,;							HIGH	2188/2424		TM63A_HUMAN			Transcript			.	ENSP00000355800		CCDS31042.1			1	
FRY	0	LGGM	GRCh37	13	32735280	32735280	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	39	3	.	.	ENST00000380250.3:c.1785-1G>T		p.X595_splice	ENST00000380250	NM_023037.2			0	1	1	UPI000046FD40	0		ENST00000380250		ENSG00000073910	20367		42			HGNC	-		FRY		SNV							ENST00000380250	protein_coding							T		-/10735				Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,splice_acceptor_variant,,ENST00000380250,NM_023037.2;							HIGH	1785/9042		FRY_HUMAN			Transcript			.	ENSP00000369600		CCDS41875.1			1	
IRX4	0	LGGM	GRCh37	5	1880838	1880838	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	3	.	.	ENST00000505790.1:c.407+1G>T		p.X136_splice	ENST00000505790	NM_001278634.1			0	1		UPI000012D8C7	0		ENST00000231357		ENSG00000113430	6129		20			HGNC	-		IRX4		SNV							ENST00000231357	protein_coding							A		-/2221				H1AFL0_HUMAN				IRX4,splice_donor_variant,,ENST00000505790,NM_001278634.1;IRX4,splice_donor_variant,,ENST00000231357,NM_016358.2;IRX4,splice_donor_variant,,ENST00000513692,NM_001278632.1;IRX4,splice_donor_variant,,ENST00000511126,;CTD-2194D22.3,upstream_gene_variant,,ENST00000506335,;IRX4,splice_donor_variant,,ENST00000505938,;IRX4,splice_donor_variant,,ENST00000508261,;							HIGH	407/1560		IRX4_HUMAN			Transcript			.	ENSP00000231357		CCDS3867.1			1	
SAMD4B	0	LGGM	GRCh37	19	39867141	39867141	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	21	3	.	.	ENST00000314471.6:c.972C>A	p.Ser324Arg	p.S324R	ENST00000314471	NM_018028.2	324	agC/agA	0	1	1	UPI00001D8165	0	getma.org/pdb.php?prot=SMAG2_HUMAN&from=297&to=357&var=S324R	ENST00000314471		ENSG00000179134	25492		24	1.9		HGNC	p.S324R		SAMD4B		SNV							ENST00000598913	protein_coding	getma.org/?cm=var&var=hg19,19,39867141,C,A&fts=all		Gene3D:1.10.150.50,Pfam_domain:PF00536,hmmpanther:PTHR12515,hmmpanther:PTHR12515:SF9,SMART_domains:SM00454,Superfamily_domains:SSF47769		S/R		A	low	2007/4519		getma.org/?cm=msa&ty=f&p=SMAG2_HUMAN&rb=297&re=357&var=S324R	deleterious(0.03)	M0QY61_HUMAN,M0QXV2_HUMAN			YES	SAMD4B,missense_variant,p.Ser324Arg,ENST00000314471,NM_018028.2;SAMD4B,missense_variant,p.Ser324Arg,ENST00000598913,;SAMD4B,missense_variant,p.Ser33Arg,ENST00000600018,;SAMD4B,splice_region_variant,,ENST00000596368,;SAMD4B,upstream_gene_variant,,ENST00000598605,;SAMD4B,upstream_gene_variant,,ENST00000595476,;SAMD4B,downstream_gene_variant,,ENST00000596319,;							MODERATE	972/2085	S324R	SMAG2_HUMAN			Transcript		benign(0.012)	.	ENSP00000317224		CCDS33020.1			1	
SLC5A11	0	LGGM	GRCh37	16	24920229	24920229	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	18	3	.	.	ENST00000347898.3:c.1462C>A	p.Leu488Met	p.L488M	ENST00000347898	NM_052944.3	488	Ctg/Atg	0	1	1	UPI0000036161	0	NA	ENST00000347898		ENSG00000158865	23091		21	2.43		HGNC	p.L418M		SLC5A11		SNV							ENST00000568579	protein_coding	getma.org/?cm=var&var=hg19,16,24920229,C,A&fts=all		PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF127,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/M		A	medium	2084/2745		getma.org/?cm=msa&ty=f&p=SC5AB_HUMAN&rb=488&re=675&var=L488M	deleterious(0.04)	H3BN85_HUMAN			YES	SLC5A11,missense_variant,p.Leu488Met,ENST00000347898,NM_052944.3;SLC5A11,missense_variant,p.Leu453Met,ENST00000424767,NM_001258411.1;SLC5A11,missense_variant,p.Leu453Met,ENST00000567758,;SLC5A11,missense_variant,p.Leu424Met,ENST00000565769,NM_001258413.1;SLC5A11,missense_variant,p.Leu418Met,ENST00000545376,NM_001258412.1;SLC5A11,missense_variant,p.Leu418Met,ENST00000568579,;SLC5A11,missense_variant,p.Leu424Met,ENST00000539472,;SLC5A11,missense_variant,p.Leu332Met,ENST00000449109,NM_001258414.1;SLC5A11,missense_variant,p.Leu332Met,ENST00000569071,;SLC5A11,3_prime_UTR_variant,,ENST00000488922,;							MODERATE	1462/2028	L488M	SC5AB_HUMAN			Transcript		benign(0.391)	.	ENSP00000289932		CCDS10625.1			1	
ATG16L2	0	LGGM	GRCh37	11	72539430	72539430	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000321297.5:c.1499C>A	p.Pro500His	p.P500H	ENST00000321297	NM_033388.1	500	cCt/cAt	0	1	1	UPI0000140B06	0	NA	ENST00000321297		ENSG00000168010	25464		44	1.935		HGNC	p.P331H		ATG16L2		SNV							ENST00000541367	protein_coding	getma.org/?cm=var&var=hg19,11,72539430,C,A&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR19878:SF2,hmmpanther:PTHR19878,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		P/H		A	medium	1637/2243		getma.org/?cm=msa&ty=f&p=A16L2_HUMAN&rb=494&re=530&var=P500H	deleterious(0)	F5H7B6_HUMAN			YES	ATG16L2,missense_variant,p.Pro500His,ENST00000321297,NM_033388.1;ATG16L2,missense_variant,p.Pro331His,ENST00000541367,;ATG16L2,missense_variant,p.Pro331His,ENST00000538973,;ATG16L2,missense_variant,p.Pro278His,ENST00000540222,;ATG16L2,missense_variant,p.Pro68His,ENST00000541554,;ATG16L2,synonymous_variant,p.=,ENST00000534905,;ATG16L2,downstream_gene_variant,,ENST00000535830,;ATG16L2,3_prime_UTR_variant,,ENST00000544490,;ATG16L2,3_prime_UTR_variant,,ENST00000435507,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000536995,;ATG16L2,non_coding_transcript_exon_variant,,ENST00000439504,;ATG16L2,downstream_gene_variant,,ENST00000542908,;ATG16L2,downstream_gene_variant,,ENST00000537212,;ATG16L2,downstream_gene_variant,,ENST00000537837,;ATG16L2,downstream_gene_variant,,ENST00000542481,;ATG16L2,downstream_gene_variant,,ENST00000541999,;							MODERATE	1499/1860	P500H	A16L2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000326340		CCDS31634.1			1	
RAPGEF1	0	LGGM	GRCh37	9	134525620	134525620	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000372190.3:c.214G>T	p.Asp72Tyr	p.D72Y	ENST00000372190	NM_198679.1	72	Gac/Tac	0	1		UPI000021FB80	0	NA	ENST00000372189		ENSG00000107263	4568		44	1.1		HGNC	p.D54Y		RAPGEF1		SNV							ENST00000372189	protein_coding	getma.org/?cm=var&var=hg19,9,134525620,C,A&fts=all		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40		D/Y		A	low	284/6085		getma.org/?cm=msa&ty=f&p=RPGF1_HUMAN&rb=4&re=676&var=D54Y	deleterious_low_confidence(0.01)					RAPGEF1,missense_variant,p.Asp71Tyr,ENST00000372195,;RAPGEF1,missense_variant,p.Asp72Tyr,ENST00000372190,NM_198679.1;RAPGEF1,missense_variant,p.Asp54Tyr,ENST00000372189,NM_005312.2;RAPGEF1,missense_variant,p.Asp72Tyr,ENST00000427994,;RAPGEF1,intron_variant,,ENST00000438647,;							MODERATE	160/3234	D54Y	RPGF1_HUMAN			Transcript		benign(0.158)	.	ENSP00000361263		CCDS48047.1			1	
THADA	0	LGGM	GRCh37	2	43804268	43804268	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	44	3	.	.	ENST00000405006.4:c.930C>A	p.Leu310=	p.L310=	ENST00000405006	NM_001083953.1	310	ctC/ctA	0	1	1	UPI00001C0473	0		ENST00000405006		ENSG00000115970	19217		47			HGNC	p.L310L		THADA		SNV							ENST00000474159	protein_coding			hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387		L		T		1282/6310				Q6YHU4_HUMAN			YES	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,synonymous_variant,p.=,ENST00000474159,;THADA,3_prime_UTR_variant,,ENST00000398653,;THADA,3_prime_UTR_variant,,ENST00000408045,;THADA,upstream_gene_variant,,ENST00000402796,;							LOW	930/5862		THADA_HUMAN			Transcript			.	ENSP00000385995		CCDS46268.1			1	
NEK9	0	LGGM	GRCh37	14	75581012	75581012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	3	.	.	ENST00000238616.5:c.767C>A	p.Pro256Gln	p.P256Q	ENST00000238616	NM_033116.4	256	cCa/cAa	0	1	1	UPI00001FD89B	0	getma.org/pdb.php?prot=NEK9_HUMAN&from=52&to=308&var=P256Q	ENST00000238616		ENSG00000119638	18591		20	-0.185		HGNC	p.P256Q		NEK9		SNV							ENST00000238616	protein_coding	getma.org/?cm=var&var=hg19,14,75581012,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24362,hmmpanther:PTHR24362:SF221,SMART_domains:SM00220,Superfamily_domains:SSF56112		P/Q		T	neutral	926/5544		getma.org/?cm=msa&ty=f&p=NEK9_HUMAN&rb=52&re=308&var=P256Q	tolerated(0.09)	G3V5V0_HUMAN,G3V2Z5_HUMAN			YES	NEK9,missense_variant,p.Pro256Gln,ENST00000238616,NM_033116.4;NEK9,downstream_gene_variant,,ENST00000557673,;NEK9,downstream_gene_variant,,ENST00000553823,;NEK9,non_coding_transcript_exon_variant,,ENST00000557026,;NEK9,non_coding_transcript_exon_variant,,ENST00000556170,;NEK9,downstream_gene_variant,,ENST00000554258,;NEK9,downstream_gene_variant,,ENST00000555961,;HIF1AP1,downstream_gene_variant,,ENST00000553642,;							MODERATE	767/2940	P256Q	NEK9_HUMAN			Transcript		possibly_damaging(0.644)	.	ENSP00000238616		CCDS9839.1			1	
BEST3	0	LGGM	GRCh37	12	70049479	70049479	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	33	3	.	.	ENST00000330891.5:c.1215C>A	p.Pro405=	p.P405=	ENST00000330891	NM_032735.2	405	ccC/ccA	0	1	1	UPI000006E397	0		ENST00000330891		ENSG00000127325	17105		36			HGNC	p.P192P		BEST3		SNV							ENST00000488961	protein_coding			hmmpanther:PTHR10736,hmmpanther:PTHR10736:SF2		P		T		1442/3532				F8VVZ2_HUMAN			YES	BEST3,synonymous_variant,p.=,ENST00000330891,NM_032735.2;BEST3,synonymous_variant,p.=,ENST00000553096,NM_001282613.1;BEST3,synonymous_variant,p.=,ENST00000488961,NM_152439.2;BEST3,intron_variant,,ENST00000331471,NM_001282614.1;BEST3,intron_variant,,ENST00000547208,;							LOW	1215/2007		BEST3_HUMAN			Transcript			.	ENSP00000332413		CCDS8992.2			1	
SLC22A17	0	LGGM	GRCh37	14	23817398	23817398	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	25	3	.	.	ENST00000397267.1:c.810G>T	p.Leu270=	p.L270=	ENST00000397267		270	ctG/ctT	0	1		UPI0000126A49	0		ENST00000206544		ENSG00000092096	23095		28			HGNC	p.L270L		SLC22A17		SNV							ENST00000397267	protein_coding			Superfamily_domains:SSF103473,Pfam_domain:PF00083,hmmpanther:PTHR24064:SF216,hmmpanther:PTHR24064,PROSITE_profiles:PS50850		L		A		1147/2284								SLC22A17,synonymous_variant,p.=,ENST00000354772,NM_016609.3;SLC22A17,synonymous_variant,p.=,ENST00000397267,;SLC22A17,synonymous_variant,p.=,ENST00000206544,NM_020372.2;SLC22A17,synonymous_variant,p.=,ENST00000397260,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474057,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000474774,;SLC22A17,non_coding_transcript_exon_variant,,ENST00000473917,;SLC22A17,downstream_gene_variant,,ENST00000557699,;SLC22A17,downstream_gene_variant,,ENST00000556803,;							LOW	810/1617		S22AH_HUMAN			Transcript			.	ENSP00000206544		CCDS9593.1			1	
SNX18	0	LGGM	GRCh37	5	53814714	53814714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	32	3	.	.	ENST00000326277.3:c.932G>T	p.Arg311Leu	p.R311L	ENST00000326277	NM_052870.2	311	cGg/cTg	0	1	1	UPI00001418B0	0	getma.org/pdb.php?prot=SNX18_HUMAN&from=274&to=382&var=R311L	ENST00000326277		ENSG00000178996	19245		35	3.95		HGNC	p.R311L		SNX18		SNV							ENST00000343017	protein_coding	getma.org/?cm=var&var=hg19,5,53814714,G,T&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF027744,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF13,SMART_domains:SM00312,Superfamily_domains:SSF64268		R/L		T	high	1122/3241		getma.org/?cm=msa&ty=f&p=SNX18_HUMAN&rb=274&re=382&var=R311L	deleterious(0)				YES	SNX18,missense_variant,p.Arg311Leu,ENST00000343017,NM_001145427.1;SNX18,missense_variant,p.Arg311Leu,ENST00000381410,NM_001102575.1;SNX18,missense_variant,p.Arg311Leu,ENST00000326277,NM_052870.2;							MODERATE	932/1887	R311L	SNX18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000317332		CCDS3962.1			1	
TMEM108	0	LGGM	GRCh37	3	133099754	133099754	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	30	3	.	.	ENST00000321871.6:c.1199C>A	p.Ala400Asp	p.A400D	ENST00000321871	NM_001136469.1	400	gCc/gAc	0	1	1	UPI000004EE8B	0	NA	ENST00000321871		ENSG00000144868	28451		33	1.79		HGNC	p.A400D		TMEM108		SNV							ENST00000515826	protein_coding	getma.org/?cm=var&var=hg19,3,133099754,C,A&fts=all				A/D		A	low	1409/3744		getma.org/?cm=msa&ty=f&p=TM108_HUMAN&rb=1&re=573&var=A400D	deleterious_low_confidence(0.01)	D6RIE1_HUMAN,D6RGJ9_HUMAN,D6RFH6_HUMAN,D6R9I6_HUMAN,D6R911_HUMAN			YES	TMEM108,missense_variant,p.Ala400Asp,ENST00000515826,;TMEM108,missense_variant,p.Ala400Asp,ENST00000321871,NM_001136469.1,NM_023943.2;TMEM108,missense_variant,p.Ala400Asp,ENST00000393130,;TMEM108,intron_variant,,ENST00000508711,NM_001282865.1;TMEM108,downstream_gene_variant,,ENST00000512662,;TMEM108,downstream_gene_variant,,ENST00000514894,;TMEM108,downstream_gene_variant,,ENST00000512137,;TMEM108,downstream_gene_variant,,ENST00000510183,;TMEM108,downstream_gene_variant,,ENST00000511555,;TMEM108,non_coding_transcript_exon_variant,,ENST00000511388,;							MODERATE	1199/1728	A400D	TM108_HUMAN			Transcript		possibly_damaging(0.839)	.	ENSP00000324651		CCDS33858.1			1	
NOV	0	LGGM	GRCh37	8	120430516	120430516	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	47	3	.	.	ENST00000259526.3:c.529G>T	p.Glu177Ter	p.E177*	ENST00000259526	NM_002514.3	177	Gag/Tag	0	1	1	UPI00001303BE	0	NA	ENST00000259526		ENSG00000136999	7885		50	0		HGNC	p.E177X		NOV		SNV							ENST00000259526	protein_coding	getma.org/?cm=var&var=hg19,8,120430516,G,T&fts=all		PIRSF_domain:PIRSF036495,hmmpanther:PTHR11348:SF8,hmmpanther:PTHR11348		E/*		T	NA	756/2522		NA		B3FHX2_HUMAN			YES	NOV,stop_gained,p.Glu177Ter,ENST00000259526,NM_002514.3;RP11-775B15.2,downstream_gene_variant,,ENST00000519786,;NOV,downstream_gene_variant,,ENST00000520082,;							HIGH	529/1074	E177*	NOV_HUMAN			Transcript			.	ENSP00000259526		CCDS6328.1			1	
FAM65A	0	LGGM	GRCh37	16	67578282	67578282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000422602.2:c.2741C>A	p.Ala914Asp	p.A914D	ENST00000422602	NM_001193523.1	914	gCt/gAt	0	1		UPI00001C0EC9	0	NA	ENST00000379312		ENSG00000039523	25836		44	1.5		HGNC	p.A914D		FAM65A		SNV							ENST00000422602	protein_coding	getma.org/?cm=var&var=hg19,16,67578282,C,A&fts=all		hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1		A/D		A	low	2814/4116		getma.org/?cm=msa&ty=f&p=FA65A_HUMAN&rb=795&re=994&var=A898D	tolerated(0.14)					FAM65A,missense_variant,p.Ala913Asp,ENST00000540839,;FAM65A,missense_variant,p.Ala908Asp,ENST00000428437,NM_001193524.1;FAM65A,missense_variant,p.Ala898Asp,ENST00000379312,NM_001193522.1,NM_024519.3;FAM65A,missense_variant,p.Ala894Asp,ENST00000042381,;FAM65A,missense_variant,p.Ala914Asp,ENST00000422602,NM_001193523.1;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000565176,;FAM65A,upstream_gene_variant,,ENST00000568959,;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,;							MODERATE	2693/3672	A898D	FA65A_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000368614		CCDS54028.1			1	
PPP1R3C	0	LGGM	GRCh37	10	93389744	93389744	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110058	H110058N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	35	3	.	.	ENST00000238994.5:c.894T>C	p.Ser298=	p.S298=	ENST00000238994	NM_005398.5	298	agT/agC	0	1	1	UPI000006EFF1	0		ENST00000238994		ENSG00000119938	9293		38			HGNC	p.S298S		PPP1R3C		SNV							ENST00000238994	protein_coding			hmmpanther:PTHR12307:SF4,hmmpanther:PTHR12307,PIRSF_domain:PIRSF500813,PIRSF_domain:PIRSF038207		S		G		979/2524				B4DRR5_HUMAN			YES	PPP1R3C,synonymous_variant,p.=,ENST00000238994,NM_005398.5;							LOW	894/954		PPR3C_HUMAN			Transcript			.	ENSP00000238994		CCDS7416.1			1	
TBX4	0	LGGM	GRCh37	17	59534916	59534916	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	40	3	.	.	ENST00000240335.1:c.205G>A	p.Val69Met	p.V69M	ENST00000240335	NM_018488.2	69	Gtg/Atg	0	1	1	UPI000013CAA9	0	getma.org/pdb.php?prot=TBX4_HUMAN&from=68&to=252&var=V69M	ENST00000240335		ENSG00000121075	11603		43	2.685		HGNC	p.V69M		TBX4		SNV			1				ENST00000393853	protein_coding	getma.org/?cm=var&var=hg19,17,59534916,G,A&fts=all		Gene3D:1h6fA00,Pfam_domain:PF00907,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF29,SMART_domains:SM00425,Superfamily_domains:SSF49417		V/M		A	medium	250/2470		getma.org/?cm=msa&ty=f&p=TBX4_HUMAN&rb=68&re=252&var=V69M	deleterious(0.04)	K7EPY2_HUMAN			YES	TBX4,missense_variant,p.Val69Met,ENST00000393853,;TBX4,missense_variant,p.Val69Met,ENST00000240335,NM_018488.2;TBX4,5_prime_UTR_variant,,ENST00000589003,;RP11-15K2.2,downstream_gene_variant,,ENST00000592766,;							MODERATE	205/1638	V69M	TBX4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000240335		CCDS11629.1			1	
PEMT	0	LGGM	GRCh37	17	17425679	17425679	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	23	3	.	.	ENST00000255389.5:c.235C>A	p.Leu79Met	p.L79M	ENST00000255389	NM_148172.2	79	Ctg/Atg	0	1		UPI000013FE69	0	NA	ENST00000395782		ENSG00000133027	8830		26	2.43		HGNC	p.L79M		PEMT		SNV							ENST00000395781	protein_coding	getma.org/?cm=var&var=hg19,17,17425679,G,T&fts=all		PIRSF_domain:PIRSF005444,PROSITE_profiles:PS51599,hmmpanther:PTHR15458		L/M		T	medium	191/895		getma.org/?cm=msa&ty=f&p=PEMT_HUMAN&rb=1&re=87&var=L42M	deleterious(0.01)					PEMT,missense_variant,p.Leu79Met,ENST00000395781,NM_001267552.1;PEMT,missense_variant,p.Leu79Met,ENST00000255389,NM_148172.2,NM_001267551.1;PEMT,missense_variant,p.Leu42Met,ENST00000395783,NM_007169.2;PEMT,missense_variant,p.Leu57Met,ENST00000435340,;PEMT,missense_variant,p.Leu42Met,ENST00000395782,NM_148173.1;PEMT,non_coding_transcript_exon_variant,,ENST00000421096,;PEMT,intron_variant,,ENST00000472446,;PEMT,upstream_gene_variant,,ENST00000484838,;PEMT,upstream_gene_variant,,ENST00000490392,;PEMT,missense_variant,p.Ser97Arg,ENST00000461404,;PEMT,intron_variant,,ENST00000580147,;							MODERATE	124/600	L42M	PEMT_HUMAN			Transcript		benign(0.213)	.	ENSP00000379128		CCDS11187.1			1	
ALPI	0	LGGM	GRCh37	2	233322505	233322505	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000295463.3:c.784G>T	p.Gly262Cys	p.G262C	ENST00000295463	NM_001631.3	262	Ggt/Tgt	0	1	1	UPI0000131FFE	0	getma.org/pdb.php?prot=PPBI_HUMAN&from=52&to=487&var=G262C	ENST00000295463		ENSG00000163295	437		44	4.21		HGNC	p.G262C		ALPI		SNV							ENST00000295463	protein_coding	getma.org/?cm=var&var=hg19,2,233322505,G,T&fts=all		hmmpanther:PTHR11596:SF30,hmmpanther:PTHR11596,Pfam_domain:PF00245,Gene3D:3.40.720.10,SMART_domains:SM00098,Superfamily_domains:SSF53649		G/C		T	high	861/2550		getma.org/?cm=msa&ty=f&p=PPBI_HUMAN&rb=52&re=487&var=G262C	deleterious(0)				YES	ALPI,missense_variant,p.Gly262Cys,ENST00000295463,NM_001631.3;ALPI,splice_region_variant,,ENST00000457560,;							MODERATE	784/1587	G262C	PPBI_HUMAN			Transcript		possibly_damaging(0.808)	.	ENSP00000295463		CCDS2492.1			1	
RPL4	0	LGGM	GRCh37	15	66793836	66793836	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	39	3	.	.	ENST00000307961.6:c.553G>T	p.Ala185Ser	p.A185S	ENST00000307961	NM_000968.3	185	Gcc/Tcc	0	1	1	UPI00001340F1	0	getma.org/pdb.php?prot=RL4_HUMAN&from=22&to=263&var=A185S	ENST00000307961		ENSG00000174444	10353		42	0.705		HGNC	p.A91S	rs764877683	RPL4	6.07E-05	SNV							ENST00000568588	protein_coding	getma.org/?cm=var&var=hg19,15,66793836,C,A&fts=all		hmmpanther:PTHR19431,Gene3D:3.40.1370.10,Pfam_domain:PF00573,Superfamily_domains:SSF52166		A/S		A	neutral	646/2767		getma.org/?cm=msa&ty=f&p=RL4_HUMAN&rb=22&re=263&var=A185S	tolerated(0.66)	H3BM89_HUMAN			YES	RPL4,missense_variant,p.Ala185Ser,ENST00000307961,NM_000968.3;RPL4,missense_variant,p.Ala91Ser,ENST00000568588,;RPL4,intron_variant,,ENST00000569696,;ZWILCH,upstream_gene_variant,,ENST00000307897,NM_017975.3,NM_001287823.1;ZWILCH,upstream_gene_variant,,ENST00000446801,NM_001287821.1;ZWILCH,upstream_gene_variant,,ENST00000535141,;ZWILCH,upstream_gene_variant,,ENST00000565627,;SNAPC5,upstream_gene_variant,,ENST00000316634,;SNAPC5,upstream_gene_variant,,ENST00000563480,;SNAPC5,upstream_gene_variant,,ENST00000307979,;SNAPC5,upstream_gene_variant,,ENST00000395589,NM_006049.2;ZWILCH,upstream_gene_variant,,ENST00000564179,;SNAPC5,upstream_gene_variant,,ENST00000566658,;RPL4,downstream_gene_variant,,ENST00000569438,;SNORD16,downstream_gene_variant,,ENST00000362803,NR_002440.1;MIR4512,upstream_gene_variant,,ENST00000583257,;SNORD18B,downstream_gene_variant,,ENST00000365659,NR_002442.1;SNORD18A,downstream_gene_variant,,ENST00000363753,NR_002441.1;SNORD18C,upstream_gene_variant,,ENST00000362704,NR_002443.1;ZWILCH,upstream_gene_variant,,ENST00000565960,;RPL4,downstream_gene_variant,,ENST00000564517,;ZWILCH,upstream_gene_variant,,ENST00000564309,;RPL4,upstream_gene_variant,,ENST00000563473,;RPL4,upstream_gene_variant,,ENST00000565723,;RPL4,non_coding_transcript_exon_variant,,ENST00000567229,;RPL4,non_coding_transcript_exon_variant,,ENST00000561775,;RPL4,non_coding_transcript_exon_variant,,ENST00000564647,;RPL4,non_coding_transcript_exon_variant,,ENST00000566039,;RPL4,non_coding_transcript_exon_variant,,ENST00000564439,;SNAPC5,upstream_gene_variant,,ENST00000568875,;SNAPC5,upstream_gene_variant,,ENST00000565465,;RPL4,downstream_gene_variant,,ENST00000566624,;RPL4,downstream_gene_variant,,ENST00000566622,;RPL4,upstream_gene_variant,,ENST00000564744,;ZWILCH,upstream_gene_variant,,ENST00000567926,;RPL4,downstream_gene_variant,,ENST00000566491,;SNAPC5,upstream_gene_variant,,ENST00000562411,;RPL4,downstream_gene_variant,,ENST00000561554,;ZWILCH,upstream_gene_variant,,ENST00000563698,;							MODERATE	553/1284	A185S	RL4_HUMAN			Transcript		benign(0.129)	.	ENSP00000311430	8.24E-06	CCDS10218.1			1	
PMEL	0	LGGM	GRCh37	12	56349303	56349303	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	35	3	.	.	ENST00000449260.2:c.1707G>T	p.Val569=	p.V569=	ENST00000449260	NM_001200054.1	569	gtG/gtT	0	1		UPI0000000C2D	0		ENST00000548493		ENSG00000185664	10880		38			HGNC	p.V89F		PMEL		SNV							ENST00000549564	protein_coding			hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF1		V		A		1817/2204				F8VZV2_HUMAN				PMEL,synonymous_variant,p.=,ENST00000548747,;PMEL,synonymous_variant,p.=,ENST00000552882,;PMEL,synonymous_variant,p.=,ENST00000548493,;PMEL,synonymous_variant,p.=,ENST00000360714,NM_006928.4;PMEL,synonymous_variant,p.=,ENST00000449260,NM_001200054.1;PMEL,synonymous_variant,p.=,ENST00000536427,;PMEL,synonymous_variant,p.=,ENST00000539511,;PMEL,synonymous_variant,p.=,ENST00000550464,NM_001200053.1;PMEL,synonymous_variant,p.=,ENST00000549404,;PMEL,synonymous_variant,p.=,ENST00000550447,;DGKA,downstream_gene_variant,,ENST00000331886,NM_001345.4;DGKA,downstream_gene_variant,,ENST00000394147,NM_201445.1,NM_201444.2,NM_201554.1;DGKA,downstream_gene_variant,,ENST00000551156,;DGKA,downstream_gene_variant,,ENST00000555218,;PMEL,downstream_gene_variant,,ENST00000547137,;PMEL,downstream_gene_variant,,ENST00000546543,;PMEL,downstream_gene_variant,,ENST00000548803,;DGKA,downstream_gene_variant,,ENST00000552903,;PMEL,downstream_gene_variant,,ENST00000549233,;PMEL,downstream_gene_variant,,ENST00000549418,;PMEL,non_coding_transcript_exon_variant,,ENST00000549564,;DGKA,downstream_gene_variant,,ENST00000549079,;PMEL,downstream_gene_variant,,ENST00000548689,;DGKA,downstream_gene_variant,,ENST00000552478,;DGKA,downstream_gene_variant,,ENST00000551739,;DGKA,downstream_gene_variant,,ENST00000551296,;DGKA,downstream_gene_variant,,ENST00000402956,;DGKA,downstream_gene_variant,,ENST00000553084,;PMEL,downstream_gene_variant,,ENST00000550590,;PMEL,downstream_gene_variant,,ENST00000556802,;DGKA,downstream_gene_variant,,ENST00000551585,;PMEL,downstream_gene_variant,,ENST00000549430,;DGKA,downstream_gene_variant,,ENST00000548491,;PMEL,downstream_gene_variant,,ENST00000550762,;DGKA,downstream_gene_variant,,ENST00000550957,;							LOW	1707/1986		PMEL_HUMAN			Transcript			.	ENSP00000447374		CCDS8897.1			1	
DOCK3	0	LGGM	GRCh37	3	51315163	51315163	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	24	3	.	.	ENST00000266037.9:c.2801C>A	p.Pro934Gln	p.P934Q	ENST00000266037	NM_004947.4	934	cCg/cAg	0	1	1	UPI000007412C	0	NA	ENST00000266037		ENSG00000088538	2989		27	1.79		HGNC	p.P934Q		DOCK3		SNV							ENST00000266037	protein_coding	getma.org/?cm=var&var=hg19,3,51315163,C,A&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF66,Superfamily_domains:SSF48371		P/Q		A	low	2824/8755		getma.org/?cm=msa&ty=f&p=DOCK3_HUMAN&rb=810&re=1009&var=P934Q	tolerated(0.09)				YES	DOCK3,missense_variant,p.Pro934Gln,ENST00000266037,NM_004947.4;							MODERATE	2801/6093	P934Q	DOCK3_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000266037		CCDS46835.1			1	
PRRC2B	0	LGGM	GRCh37	9	134353962	134353962	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	27	3	.	.	ENST00000357304.4:c.4714C>A	p.Arg1572Ser	p.R1572S	ENST00000357304	NM_013318.3	1572	Cgc/Agc	0	1	1	UPI00002374A3	0	NA	ENST00000357304		ENSG00000130723	28121		30	1.995		HGNC	p.R1572S		PRRC2B		SNV							ENST00000357304	protein_coding	getma.org/?cm=var&var=hg19,9,134353962,C,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14038:SF4,hmmpanther:PTHR14038		R/S		A	medium	4769/11042		getma.org/?cm=msa&ty=f&p=PRC2B_HUMAN&rb=1395&re=1594&var=R1572S	deleterious(0)	Q5JSZ9_HUMAN,B4E3S7_HUMAN			YES	PRRC2B,missense_variant,p.Arg1572Ser,ENST00000357304,NM_013318.3;PRRC2B,missense_variant,p.Arg878Ser,ENST00000405995,;PRRC2B,missense_variant,p.Arg878Ser,ENST00000458550,;PRRC2B,missense_variant,p.Arg306Ser,ENST00000451855,;PRRC2B,5_prime_UTR_variant,,ENST00000372249,;PRRC2B,downstream_gene_variant,,ENST00000456307,;							MODERATE	4714/6690	R1572S	PRC2B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349856		CCDS48044.1			1	
ZSCAN32	0	LGGM	GRCh37	16	3433061	3433061	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	33	3	.	.	ENST00000304926.3:c.1249G>T	p.Gly417Trp	p.G417W	ENST00000304926	NM_017810.2	417	Ggg/Tgg	0	1		UPI000035DB5C	0	getma.org/pdb.php?prot=ZN434_HUMAN&from=407&to=432&var=G417W	ENST00000396846		ENSG00000140987	20812		36	3.55		HGNC	p.G340W		ZSCAN32		SNV							ENST00000439568	protein_coding	getma.org/?cm=var&var=hg19,16,3433061,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF210,hmmpanther:PTHR10032,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/W		A	high	2073/3048		getma.org/?cm=msa&ty=f&p=ZN434_HUMAN&rb=387&re=452&var=G417W	deleterious(0)	I3L3J2_HUMAN,I3L1K0_HUMAN,B4DWL5_HUMAN				ZSCAN32,missense_variant,p.Gly629Trp,ENST00000396852,NM_001284527.1;ZSCAN32,missense_variant,p.Gly629Trp,ENST00000396846,;ZSCAN32,missense_variant,p.Gly417Trp,ENST00000304926,NM_017810.2;ZSCAN32,missense_variant,p.Gly340Trp,ENST00000439568,NM_001284529.1,NM_001284528.1;ZSCAN32,downstream_gene_variant,,ENST00000574940,;ZSCAN32,downstream_gene_variant,,ENST00000573327,;ZSCAN32,downstream_gene_variant,,ENST00000422427,;ZSCAN32,downstream_gene_variant,,ENST00000571906,;ZSCAN32,downstream_gene_variant,,ENST00000575350,;ZSCAN32,downstream_gene_variant,,ENST00000573719,;ZSCAN32,downstream_gene_variant,,ENST00000573830,;NAA60,intron_variant,,ENST00000576906,;ZSCAN32,3_prime_UTR_variant,,ENST00000576500,;ZSCAN32,non_coding_transcript_exon_variant,,ENST00000571285,;NAA60,intron_variant,,ENST00000575785,;ZSCAN32,downstream_gene_variant,,ENST00000574084,;							MODERATE	1885/2094	G417W	ZSC32_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380057		CCDS66921.1			1	
CDC42EP4	0	LGGM	GRCh37	17	71282504	71282504	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	15	3	.	.	ENST00000335793.3:c.136G>T	p.Ala46Ser	p.A46S	ENST00000335793		46	Gcc/Tcc	0	1	1	UPI000003B4C8	0	NA	ENST00000335793		ENSG00000179604	17147		18	1.9		HGNC	p.A46S		CDC42EP4		SNV							ENST00000580315	protein_coding	getma.org/?cm=var&var=hg19,17,71282504,C,A&fts=all		Pfam_domain:PF00786,hmmpanther:PTHR15344,hmmpanther:PTHR15344:SF14,SMART_domains:SM00285		A/S		A	low	531/3272		getma.org/?cm=msa&ty=f&p=BORG4_HUMAN&rb=26&re=85&var=A46S	deleterious(0)	J3QQS6_HUMAN,J3KRZ9_HUMAN,B2R6D8_HUMAN			YES	CDC42EP4,missense_variant,p.Ala46Ser,ENST00000335793,;CDC42EP4,missense_variant,p.Ala46Ser,ENST00000439510,NM_012121.4;CDC42EP4,missense_variant,p.Ala46Ser,ENST00000580315,;CDC42EP4,missense_variant,p.Ala46Ser,ENST00000579611,;CDC42EP4,intron_variant,,ENST00000581014,;CDC42EP4,downstream_gene_variant,,ENST00000581045,;							MODERATE	136/1071	A46S	BORG4_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000338258		CCDS11695.1			1	
ATL3	0	LGGM	GRCh37	11	63403775	63403775	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000398868.3:c.882G>T	p.Gln294His	p.Q294H	ENST00000398868	NM_015459.3	294	caG/caT	0	1	1	UPI0000071A21	0	getma.org/pdb.php?prot=ATLA3_HUMAN&from=36&to=310&var=Q294H	ENST00000398868		ENSG00000184743	24526		44	1.445		HGNC	p.Q276H		ATL3		SNV			1				ENST00000538786	protein_coding	getma.org/?cm=var&var=hg19,11,63403775,C,A&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF02263,Gene3D:3.40.50.300,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF32,PROSITE_profiles:PS51715		Q/H		A	low	1159/7135		getma.org/?cm=msa&ty=f&p=ATLA3_HUMAN&rb=36&re=310&var=Q294H	deleterious(0.02)	F5H6I7_HUMAN			YES	ATL3,missense_variant,p.Gln294His,ENST00000398868,NM_015459.3;ATL3,missense_variant,p.Gln321His,ENST00000332645,;ATL3,missense_variant,p.Gln276His,ENST00000538786,;RP11-697H9.2,upstream_gene_variant,,ENST00000540307,;RP11-697H9.4,downstream_gene_variant,,ENST00000605170,;							MODERATE	882/1626	Q294H	ATLA3_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000381844		CCDS41663.1			1	
HSPBAP1	0	LGGM	GRCh37	3	122496659	122496659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	32	3	.	.	ENST00000306103.2:c.159G>T	p.Trp53Cys	p.W53C	ENST00000306103	NM_024610.5	53	tgG/tgT	0	1	1	UPI00000715E9	0	getma.org/pdb.php?prot=HBAP1_HUMAN&from=30&to=279&var=W53C	ENST00000306103		ENSG00000169087	16389		35	3.2		HGNC	p.W53C		HSPBAP1		SNV			1				ENST00000383659	protein_coding	getma.org/?cm=var&var=hg19,3,122496659,C,A&fts=all		Superfamily_domains:SSF51197,Gene3D:1vrbA01,Pfam_domain:PF13621,hmmpanther:PTHR12461,hmmpanther:PTHR12461:SF28		W/C		A	medium	303/1953		getma.org/?cm=msa&ty=f&p=HBAP1_HUMAN&rb=30&re=279&var=W53C	deleterious(0)	Q9H641_HUMAN			YES	HSPBAP1,missense_variant,p.Trp53Cys,ENST00000383659,;HSPBAP1,missense_variant,p.Trp53Cys,ENST00000306103,NM_024610.5;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000465044,;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000467643,;HSPBAP1,non_coding_transcript_exon_variant,,ENST00000478601,;							MODERATE	159/1467	W53C	HBAP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302562		CCDS3017.1			1	
RNF146	0	LGGM	GRCh37	6	127607820	127607820	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000368314.1:c.62C>A	p.Ala21Glu	p.A21E	ENST00000368314	NM_001242850.1	21	gCg/gAg	0	1	1	UPI000007395E	0	NA	ENST00000368314		ENSG00000118518	21336		44	0.345		HGNC	p.A21E		RNF146		SNV							ENST00000368314	protein_coding	getma.org/?cm=var&var=hg19,6,127607820,C,A&fts=all		hmmpanther:PTHR13417		A/E		A	neutral	486/2369		getma.org/?cm=msa&ty=f&p=RN146_HUMAN&rb=1&re=34&var=A21E	tolerated(1)				YES	RNF146,missense_variant,p.Ala21Glu,ENST00000368314,NM_001242850.1,NM_001242851.1;RNF146,missense_variant,p.Ala20Glu,ENST00000608991,NM_001242846.1;RNF146,missense_variant,p.Ala20Glu,ENST00000309649,NM_001242845.1,NM_030963.3,NM_001242844.1;RNF146,missense_variant,p.Ala21Glu,ENST00000610153,NM_001242849.1;RNF146,3_prime_UTR_variant,,ENST00000356799,NM_001242852.1;RNF146,3_prime_UTR_variant,,ENST00000476956,;RNF146,3_prime_UTR_variant,,ENST00000480444,;RNF146,3_prime_UTR_variant,,ENST00000477776,;ECHDC1,downstream_gene_variant,,ENST00000531967,NM_001139510.1;ECHDC1,downstream_gene_variant,,ENST00000474289,;ECHDC1,downstream_gene_variant,,ENST00000454859,NM_001002030.1;ECHDC1,downstream_gene_variant,,ENST00000454591,NM_001105544.1;ECHDC1,downstream_gene_variant,,ENST00000528402,NM_001105545.1;ECHDC1,downstream_gene_variant,,ENST00000309620,;ECHDC1,downstream_gene_variant,,ENST00000368291,NM_018479.3;ECHDC1,downstream_gene_variant,,ENST00000430841,;ECHDC1,downstream_gene_variant,,ENST00000368289,;ECHDC1,downstream_gene_variant,,ENST00000436638,;RNF146,downstream_gene_variant,,ENST00000609447,;RNF146,downstream_gene_variant,,ENST00000610162,;RNF146,downstream_gene_variant,,ENST00000609944,;ECHDC1,downstream_gene_variant,,ENST00000460558,;RNF146,non_coding_transcript_exon_variant,,ENST00000489534,;RNF146,downstream_gene_variant,,ENST00000608340,;ECHDC1,downstream_gene_variant,,ENST00000488087,;ECHDC1,downstream_gene_variant,,ENST00000368295,;ECHDC1,downstream_gene_variant,,ENST00000475319,;ECHDC1,downstream_gene_variant,,ENST00000479525,;ECHDC1,downstream_gene_variant,,ENST00000368292,;ECHDC1,downstream_gene_variant,,ENST00000417628,;							MODERATE	62/1080	A21E	RN146_HUMAN			Transcript		benign(0.012)	.	ENSP00000357297		CCDS56449.1			1	
GLI4	0	LGGM	GRCh37	8	144358768	144358768	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	26	3	.	.	ENST00000340042.1:c.925G>T	p.Val309Leu	p.V309L	ENST00000340042	NM_138465.3	309	Gtg/Ttg	0	1	1	UPI0000070432	0	getma.org/pdb.php?prot=GLI4_HUMAN&from=309&to=333&var=V309L	ENST00000340042		ENSG00000250571	4320		29	0.605		HGNC	p.V309L		GLI4		SNV							ENST00000340042	protein_coding	getma.org/?cm=var&var=hg19,8,144358768,G,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF122,SMART_domains:SM00355,Superfamily_domains:SSF57667		V/L		T	neutral	1010/1341		getma.org/?cm=msa&ty=f&p=GLI4_HUMAN&rb=289&re=353&var=V309L	tolerated(0.66)				YES	GLI4,missense_variant,p.Val309Leu,ENST00000340042,NM_138465.3;GLI4,missense_variant,p.Val309Leu,ENST00000523522,;ZFP41,downstream_gene_variant,,ENST00000522452,;GLI4,downstream_gene_variant,,ENST00000521682,;GLI4,downstream_gene_variant,,ENST00000344692,;GLI4,downstream_gene_variant,,ENST00000517468,;GLI4,downstream_gene_variant,,ENST00000517530,;GLI4,downstream_gene_variant,,ENST00000520021,;RP13-582O9.5,downstream_gene_variant,,ENST00000523031,;RP13-582O9.5,downstream_gene_variant,,ENST00000517411,;RP13-582O9.5,downstream_gene_variant,,ENST00000524335,;RP13-582O9.5,downstream_gene_variant,,ENST00000521207,;RP13-582O9.5,downstream_gene_variant,,ENST00000518073,;RP13-582O9.5,downstream_gene_variant,,ENST00000519852,;GLI4,non_coding_transcript_exon_variant,,ENST00000523812,;GLI4,downstream_gene_variant,,ENST00000519876,;GLI4,downstream_gene_variant,,ENST00000522479,;GLI4,downstream_gene_variant,,ENST00000522033,;							MODERATE	925/1131	V309L	GLI4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000345024		CCDS6398.1			1	
PZP	0	LGGM	GRCh37	12	9309832	9309832	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	3	.	.	ENST00000261336.2:c.3489G>T	p.Leu1163=	p.L1163=	ENST00000261336	NM_002864.2	1163	ctG/ctT	0	1	1	UPI000013D168	0		ENST00000261336		ENSG00000126838	9750		44			HGNC	p.L949L		PZP		SNV							ENST00000381997	protein_coding			Gene3D:1.50.10.20,Pfam_domain:PF07678,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF87,Superfamily_domains:SSF48239		L		A		3518/4610							YES	PZP,synonymous_variant,p.=,ENST00000261336,NM_002864.2;PZP,synonymous_variant,p.=,ENST00000381997,;PZP,downstream_gene_variant,,ENST00000539983,;PZP,downstream_gene_variant,,ENST00000546197,;PZP,3_prime_UTR_variant,,ENST00000535230,;TPT1P12,upstream_gene_variant,,ENST00000448968,;							LOW	3489/4449		PZP_HUMAN			Transcript			.	ENSP00000261336		CCDS8600.1			1	
HCN3	0	LGGM	GRCh37	1	155252351	155252351	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	3	.	.	ENST00000368358.3:c.428T>G	p.Leu143Arg	p.L143R	ENST00000368358	NM_020897.2	143	cTc/cGc	0	1	1	UPI00000559A6	0	NA	ENST00000368358		ENSG00000143630	19183		20	3.245		HGNC	p.L143R		HCN3		SNV							ENST00000368358	protein_coding	getma.org/?cm=var&var=hg19,1,155252351,T,G&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF374,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01463		L/R		G	medium	436/3718		getma.org/?cm=msa&ty=f&p=HCN3_HUMAN&rb=128&re=346&var=L143R	deleterious(0)				YES	HCN3,missense_variant,p.Leu143Arg,ENST00000368358,NM_020897.2;CLK2,upstream_gene_variant,,ENST00000536801,;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;HCN3,non_coding_transcript_exon_variant,,ENST00000467204,;CLK2,upstream_gene_variant,,ENST00000471047,;							MODERATE	428/2325	L143R	HCN3_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000357342		CCDS1108.1			1	
GARIN1A	0	LGGM	GRCh37	7	128315799	128315799	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	19	3	.	.	ENST00000480462.1:c.251C>A	p.Ser84Ter	p.S84*	ENST00000480462		84	tCg/tAg	0	1	1	UPI0000198E09	0	NA	ENST00000480462		ENSG00000205085	27998		22	0		HGNC	p.S75X		FAM71F2		SNV							ENST00000474069	protein_coding	getma.org/?cm=var&var=hg19,7,128315799,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22574:SF4,hmmpanther:PTHR22574		S/*		A	NA	357/2147		NA					YES	FAM71F2,stop_gained,p.Ser84Ter,ENST00000480462,;FAM71F2,stop_gained,p.Ser75Ter,ENST00000378704,NM_001128926.1,NM_001012454.3;FAM71F2,stop_gained,p.Ser84Ter,ENST00000477515,;FAM71F2,non_coding_transcript_exon_variant,,ENST00000460349,;FAM71F2,stop_gained,p.Ser75Ter,ENST00000434001,;FAM71F2,stop_gained,p.Ser75Ter,ENST00000474069,;							HIGH	251/930	S84*	F71F2_HUMAN			Transcript			.	ENSP00000420140		CCDS47701.1			1	
ZNF436	0	LGGM	GRCh37	1	23688952	23688952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	38	3	.	.	ENST00000314011.4:c.923G>T	p.Cys308Phe	p.C308F	ENST00000314011	NM_001077195.1	308	tGt/tTt	0	1	1	UPI0000001669	0	getma.org/pdb.php?prot=ZN436_HUMAN&from=292&to=317&var=C308F	ENST00000314011		ENSG00000125945	20814		41	3.58		HGNC	p.C308F		ZNF436		SNV							ENST00000374608	protein_coding	getma.org/?cm=var&var=hg19,1,23688952,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/F		A	high	1060/4071		getma.org/?cm=msa&ty=f&p=ZN436_HUMAN&rb=272&re=337&var=C308F	deleterious(0)	Q15921_HUMAN			YES	ZNF436,missense_variant,p.Cys308Phe,ENST00000314011,NM_001077195.1;ZNF436,missense_variant,p.Cys308Phe,ENST00000374608,NM_030634.2;							MODERATE	923/1413	C308F	ZN436_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000313582		CCDS233.1			1	
ARHGEF40	0	LGGM	GRCh37	14	21541258	21541258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	3	.	.	ENST00000298694.4:c.58C>A	p.Pro20Thr	p.P20T	ENST00000298694	NM_001278529.1	20	Ccc/Acc	0	1	1	UPI00001FCFB7	0	NA	ENST00000298694		ENSG00000165801	25516		20	2.265		HGNC	p.P20T		ARHGEF40		SNV							ENST00000298693	protein_coding	getma.org/?cm=var&var=hg19,14,21541258,C,A&fts=all		hmmpanther:PTHR22826:SF108,hmmpanther:PTHR22826		P/T		A	medium	185/5919		getma.org/?cm=msa&ty=f&p=ARH40_HUMAN&rb=1&re=200&var=P20T	deleterious(0)				YES	ARHGEF40,missense_variant,p.Pro20Thr,ENST00000298694,NM_001278529.1,NM_018071.4,NM_001278530.1;ARHGEF40,missense_variant,p.Pro20Thr,ENST00000298693,;ARHGEF40,missense_variant,p.Pro20Thr,ENST00000555038,;NDRG2,upstream_gene_variant,,ENST00000403829,NM_001282211.1;ARHGEF40,missense_variant,p.Pro20Thr,ENST00000553709,;ARHGEF40,missense_variant,p.Pro20Thr,ENST00000556399,;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,;ARHGEF40,upstream_gene_variant,,ENST00000555052,;							MODERATE	58/4560	P20T	ARH40_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000298694		CCDS32041.1			1	
NPHP4	0	LGGM	GRCh37	1	6007250	6007250	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	18	3	.	.	ENST00000378156.4:c.1033C>A	p.Leu345Ile	p.L345I	ENST00000378156	NM_015102.3	345	Ctc/Atc	0	1	1	UPI00001303E5	0	NA	ENST00000378156		ENSG00000131697	19104		21	2.33		HGNC	p.L345I		NPHP4		SNV			1				ENST00000489180	protein_coding	getma.org/?cm=var&var=hg19,1,6007250,G,T&fts=all		hmmpanther:PTHR31043:SF3,hmmpanther:PTHR31043		L/I		T	medium	1299/4994		getma.org/?cm=msa&ty=f&p=NPHP4_HUMAN&rb=201&re=400&var=L345I	tolerated(0.1)				YES	NPHP4,missense_variant,p.Leu345Ile,ENST00000378156,NM_015102.3;NPHP4,non_coding_transcript_exon_variant,,ENST00000478423,;NPHP4,missense_variant,p.Leu345Ile,ENST00000489180,;NPHP4,3_prime_UTR_variant,,ENST00000378169,;							MODERATE	1033/4281	L345I	NPHP4_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000367398		CCDS44052.1			1	
DENND1C	0	LGGM	GRCh37	19	6468255	6468255	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	22	3	.	.	ENST00000381480.2:c.1781G>T	p.Cys594Phe	p.C594F	ENST00000381480	NM_024898.2	594	tGc/tTc	0	1	1	UPI000007469C	0	NA	ENST00000381480		ENSG00000205744	26225		25	1.04		HGNC	p.C594F		DENND1C		SNV							ENST00000381480	protein_coding	getma.org/?cm=var&var=hg19,19,6468255,C,A&fts=all		hmmpanther:PTHR13196,hmmpanther:PTHR13196:SF21		C/F		A	low	1894/2816		getma.org/?cm=msa&ty=f&p=DEN1C_HUMAN&rb=586&re=761&var=C594F	tolerated(0.1)	K7ENM0_HUMAN,K7EMN9_HUMAN,K7EM80_HUMAN,K7EKL5_HUMAN,B3KP66_HUMAN			YES	DENND1C,missense_variant,p.Cys594Phe,ENST00000381480,NM_024898.2;DENND1C,missense_variant,p.Cys550Phe,ENST00000543576,;CRB3,downstream_gene_variant,,ENST00000598494,;CRB3,downstream_gene_variant,,ENST00000600229,NM_139161.3;CRB3,downstream_gene_variant,,ENST00000356762,NM_174881.2;CRB3,downstream_gene_variant,,ENST00000308243,;SLC25A23,upstream_gene_variant,,ENST00000597307,;DENND1C,3_prime_UTR_variant,,ENST00000590867,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590444,;DENND1C,non_coding_transcript_exon_variant,,ENST00000590818,;DENND1C,non_coding_transcript_exon_variant,,ENST00000591795,;							MODERATE	1781/2406	C594F	DEN1C_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000370889		CCDS45938.1			1	
ADAM32	0	LGGM	GRCh37	8	39112034	39112034	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	38	3	.	.	ENST00000379907.4:c.2004G>T	p.Met668Ile	p.M668I	ENST00000379907	NM_145004.5	668	atG/atT	0	1	1	UPI000013F62F	0	NA	ENST00000379907		ENSG00000197140	15479		41	-0.55		HGNC	p.M668I		ADAM32		SNV							ENST00000379907	protein_coding	getma.org/?cm=var&var=hg19,8,39112034,G,T&fts=all		hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905		M/I		T	neutral	2131/2601		getma.org/?cm=msa&ty=f&p=ADA32_HUMAN&rb=597&re=719&var=M668I	tolerated(0.22)	E5RJY7_HUMAN			YES	ADAM32,missense_variant,p.Met668Ile,ENST00000379907,NM_145004.5;ADAM32,missense_variant,p.Met569Ile,ENST00000437682,;ADAM32,missense_variant,p.Met562Ile,ENST00000519315,;ADAM32,splice_region_variant,,ENST00000520691,;							MODERATE	2004/2364	M668I	ADA32_HUMAN			Transcript		benign(0.002)	.	ENSP00000369238		CCDS47846.1			1	
SGSM2	0	LGGM	GRCh37	17	2265552	2265552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	34	3	.	.	ENST00000268989.3:c.446C>A	p.Ala149Glu	p.A149E	ENST00000268989	NM_014853.2	149	gCg/gAg	0	1		UPI00002005DE	0	NA	ENST00000426855		ENSG00000141258	29026		37	0		HGNC	p.A149E		SGSM2		SNV							ENST00000268989	protein_coding	getma.org/?cm=var&var=hg19,17,2265552,C,A&fts=all		Superfamily_domains:0052343,Pfam_domain:PF02759,PROSITE_profiles:PS50826,SMART_domains:SM00593		A/E		A	neutral	621/4734		getma.org/?cm=msa&ty=f&p=SGSM2_HUMAN&rb=42&re=189&var=A149E	deleterious(0)	I3L1Y7_HUMAN,B9A6J3_HUMAN				SGSM2,missense_variant,p.Ala149Glu,ENST00000268989,NM_014853.2;SGSM2,missense_variant,p.Ala149Glu,ENST00000426855,NM_001098509.1;SGSM2,missense_variant,p.Ala149Glu,ENST00000574563,;SGSM2,missense_variant,p.Ala58Glu,ENST00000574650,;SGSM2,upstream_gene_variant,,ENST00000570431,;SGSM2,missense_variant,p.Ala149Glu,ENST00000573062,;SGSM2,upstream_gene_variant,,ENST00000574857,;SGSM2,upstream_gene_variant,,ENST00000575367,;SGSM2,downstream_gene_variant,,ENST00000572875,;							MODERATE	446/3021	A149E	SGSM2_HUMAN			Transcript		benign(0.03)	.	ENSP00000415107		CCDS45570.1			1	
BSN	0	LGGM	GRCh37	3	49689648	49689648	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	5	3	.	.	ENST00000296452.4:c.2659C>A	p.Gln887Lys	p.Q887K	ENST00000296452	NM_003458.3	887	Caa/Aaa	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		8	-0.49		HGNC	p.Q887K		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49689648,C,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		Q/K		A	neutral	2773/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=522&re=1172&var=Q887K					YES	BSN,missense_variant,p.Gln887Lys,ENST00000296452,NM_003458.3;BSN,downstream_gene_variant,,ENST00000467456,;							MODERATE	2659/11781	Q887K	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
MCM5	0	LGGM	GRCh37	22	35813799	35813799	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	43	3	.	.	ENST00000216122.4:c.1653G>T	p.Glu551Asp	p.E551D	ENST00000216122	NM_006739.3	551	gaG/gaT	0	1	1	UPI000000D8F4	0	getma.org/pdb.php?prot=MCM5_HUMAN&from=318&to=649&var=E551D	ENST00000216122		ENSG00000100297	6948		46	0.78		HGNC	p.E551D		MCM5		SNV							ENST00000216122	protein_coding	getma.org/?cm=var&var=hg19,22,35813799,G,T&fts=all		hmmpanther:PTHR11630:SF68,hmmpanther:PTHR11630,Pfam_domain:PF00493,SMART_domains:SM00350,Superfamily_domains:SSF52540		E/D		T	neutral	1807/3534		getma.org/?cm=msa&ty=f&p=MCM5_HUMAN&rb=318&re=649&var=E551D	tolerated(0.14)	B1AHB2_HUMAN,B1AHB0_HUMAN			YES	MCM5,missense_variant,p.Glu551Asp,ENST00000216122,NM_006739.3;MCM5,missense_variant,p.Glu508Asp,ENST00000382011,;MCM5,downstream_gene_variant,,ENST00000465557,;MCM5,downstream_gene_variant,,ENST00000464908,;MCM5,downstream_gene_variant,,ENST00000493569,;MCM5,non_coding_transcript_exon_variant,,ENST00000493076,;							MODERATE	1653/2205	E551D	MCM5_HUMAN			Transcript		benign(0.072)	.	ENSP00000216122		CCDS13915.1			1	
PPP2R2C	0	LGGM	GRCh37	4	6383535	6383535	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	50	4	.	.	ENST00000335585.5:c.39G>T	p.Gln13His	p.Q13H	ENST00000335585	NM_181876.2	13	caG/caT	0	1		UPI000017C2F0	0		ENST00000382599		ENSG00000074211	9306		54			HGNC	p.Q13H		PPP2R2C		SNV							ENST00000509917	protein_coding							A		-/1807								PPP2R2C,missense_variant,p.Gln13His,ENST00000335585,NM_181876.2;PPP2R2C,intron_variant,,ENST00000515571,NM_001206996.1;PPP2R2C,intron_variant,,ENST00000382599,;PPP2R2C,intron_variant,,ENST00000506140,NM_001206994.1;PPP2R2C,intron_variant,,ENST00000507294,NM_001206995.1;PPP2R2C,intron_variant,,ENST00000507028,;PPP2R2C,intron_variant,,ENST00000314348,;PPP2R2C,missense_variant,p.Gln13His,ENST00000509917,;PPP2R2C,non_coding_transcript_exon_variant,,ENST00000513943,;							MODIFIER	-/1344		2ABG_HUMAN			Transcript			.	ENSP00000372042					1	
TP53	0	LGGM	GRCh37	17	7577120	7577120	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	4	.	.	ENST00000269305.4:c.818G>T	p.Arg273Leu	p.R273L	ENST00000269305	NM_001126112.2	273	cGt/cTt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R273L	ENST00000269305	pathogenic	ENSG00000141510	11998		21	3.145		HGNC	p.R273L	rs28934576,TP53_g.13798G>T,COSM10779,COSM318169,COSM3675521,COSM1640828	TP53		SNV			1			1,0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577120,C,A&fts=all	T:0	Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/L		A	medium	1008/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R273L	deleterious(0)	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	T:0	T:0	YES	TP53,missense_variant,p.Arg273Leu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg273Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg273Leu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg273Leu,ENST00000445888,;TP53,missense_variant,p.Arg273Leu,ENST00000359597,;TP53,missense_variant,p.Arg141Leu,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,;		T:0.0002			0,0,1,1,1,1		MODERATE	818/1182	R273L	P53_HUMAN		T:0.001	Transcript		probably_damaging(0.993)	.	ENSP00000269305		CCDS11118.1		T:0	1	25105660
ABCC3	0	LGGM	GRCh37	17	48733289	48733289	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	26	4	.	.	ENST00000285238.8:c.142G>T	p.Ala48Ser	p.A48S	ENST00000285238	NM_003786.3	48	Gcc/Tcc	0	1	1	UPI000004B145	0	NA	ENST00000285238		ENSG00000108846	54		30	1.75		HGNC	p.A48S	rs757334041	ABCC3	0.000242	SNV							ENST00000505699	protein_coding	getma.org/?cm=var&var=hg19,17,48733289,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957		A/S		T	low	222/5716	3.00E-05	getma.org/?cm=msa&ty=f&p=MRP3_HUMAN&rb=22&re=62&var=A48S	tolerated(0.28)	Q96QA9_HUMAN,Q2M3C9_HUMAN			YES	ABCC3,missense_variant,p.Ala48Ser,ENST00000285238,NM_003786.3;ABCC3,missense_variant,p.Ala48Ser,ENST00000427699,NM_001144070.1;ABCC3,missense_variant,p.Ala48Ser,ENST00000502426,;ABCC3,missense_variant,p.Ala48Ser,ENST00000505699,;ABCC3,3_prime_UTR_variant,,ENST00000513511,;ABCC3,upstream_gene_variant,,ENST00000515585,;							MODERATE	142/4584	A48S	MRP3_HUMAN			Transcript		benign(0.082)	.	ENSP00000285238	4.94E-05	CCDS32681.1			1	
PABPC5	0	LGGM	GRCh37	X	90690693	90690693	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	9	4	.	.	ENST00000312600.3:c.117G>A	p.Arg39=	p.R39=	ENST00000312600	NM_080832.2	39	agG/agA	0	1	1	UPI0000087790	0		ENST00000312600		ENSG00000174740	13629		13			HGNC	p.R39R		PABPC5		SNV							ENST00000312600	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF00076,PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF241,SMART_domains:SM00360,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01628		R		A		331/3221				Q5JQF3_HUMAN,B4DM75_HUMAN			YES	PABPC5,synonymous_variant,p.=,ENST00000312600,NM_080832.2;PABPC5,intron_variant,,ENST00000373105,;PABPC5-AS1,upstream_gene_variant,,ENST00000456187,;							LOW	117/1149		PABP5_HUMAN			Transcript			.	ENSP00000308012		CCDS14460.1			1	
TTN	0	LGGM	GRCh37	2	179396497	179396497	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	83	4	.	.	ENST00000589042.1:c.104845C>T	p.Arg34949Cys	p.R34949C	ENST00000589042	NM_001267550.1	34949	Cgc/Tgc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=33301&to=33390&var=R33308C	ENST00000591111		ENSG00000155657	12403	8.65E-05	87	2.2		HGNC	p.R26009C	rs576270358,COSM1325723,COSM1325722,COSM1325719,COSM1325721,COSM1325720	TTN		SNV			1			0,1,1,1,1,1	ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179396497,G,A&fts=all	A:0	Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/C		A	medium	100147/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=33301&re=33390&var=R33308C		C9JQJ2_HUMAN	A:0.0014	A:0		TTN,missense_variant,p.Arg34949Cys,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg33308Cys,ENST00000591111,;TTN,missense_variant,p.Arg32381Cys,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg26076Cys,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg26009Cys,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg25884Cys,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,,ENST00000592161,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,downstream_gene_variant,,ENST00000587576,;	0.000232	A:0.0002			0,1,1,1,1,1		MODERATE	99922/103053	R33308C	TITIN_HUMAN		A:0	Transcript			.	ENSP00000465570	2.48E-05			A:0	1	
CEACAM21	0	LGGM	GRCh37	19	42085972	42085972	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110058	H110058N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	10	4	.	.	ENST00000401445.2:c.691A>G	p.Thr231Ala	p.T231A	ENST00000401445		231	Act/Gct	0	1	1	UPI0000D617B1	0	getma.org/pdb.php?prot=CEA21_HUMAN&from=146&to=232&var=T231A	ENST00000401445		ENSG00000007129	28834		14	0.835		HGNC	p.T103A		CEACAM21		SNV							ENST00000407170	protein_coding	getma.org/?cm=var&var=hg19,19,42085972,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19955:SF124,hmmpanther:PTHR19955,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/A		G	low	717/1008		getma.org/?cm=msa&ty=f&p=CEA21_HUMAN&rb=146&re=232&var=T231A	deleterious(0.04)				YES	CEACAM21,missense_variant,p.Thr103Ala,ENST00000407170,NM_001288773.1;CEACAM21,missense_variant,p.Thr231Ala,ENST00000187608,NM_001098506.1,NM_033543.3;CEACAM21,missense_variant,p.Thr231Ala,ENST00000401445,;CEACAM21,non_coding_transcript_exon_variant,,ENST00000482870,;CEACAM21,3_prime_UTR_variant,,ENST00000457737,;							MODERATE	691/882	T231A	CEA21_HUMAN			Transcript		benign(0.055)	.	ENSP00000385739		CCDS46086.1			1	
ZNF30	0	LGGM	GRCh37	19	35434987	35434987	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	75	4	.	.	ENST00000439785.1:c.1120G>A	p.Gly374Arg	p.G374R	ENST00000439785	NM_001099438.1	374	Gga/Aga	0	1		UPI0000E0464D	0	getma.org/pdb.php?prot=ZNF30_HUMAN&from=355&to=385&var=G373R	ENST00000601142		ENSG00000168661	13090		79	-0.965		HGNC	p.G374R		ZNF30		SNV							ENST00000303586	protein_coding	getma.org/?cm=var&var=hg19,19,35434987,G,A&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/R		A	neutral	1354/2280		getma.org/?cm=msa&ty=f&p=ZNF30_HUMAN&rb=355&re=385&var=G373R	deleterious(0.03)					ZNF30,missense_variant,p.Gly374Arg,ENST00000439785,NM_001099438.1;ZNF30,missense_variant,p.Gly374Arg,ENST00000303586,NM_194325.2,NM_001099437.1;ZNF30,missense_variant,p.Gly292Arg,ENST00000426813,;ZNF30,missense_variant,p.Gly373Arg,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;							MODERATE	1117/1872	G373R	ZNF30_HUMAN			Transcript		benign(0.001)	.	ENSP00000469954		CCDS46045.1			1	
UBN2	0	LGGM	GRCh37	7	138946391	138946391	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	81	4	.	.	ENST00000473989.3:c.1299G>T	p.Gln433His	p.Q433H	ENST00000473989	NM_173569.3	433	caG/caT	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		85	0.4		HGNC	p.Q433H		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138946391,G,T&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		Q/H		T	neutral	1299/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=264&re=447&var=Q433H	tolerated(0.14)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Gln433His,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Gln350His,ENST00000288561,;UBN2,missense_variant,p.Gln202His,ENST00000483726,;UBN2,downstream_gene_variant,,ENST00000486663,;							MODERATE	1299/4044	Q433H	UBN2_HUMAN			Transcript		benign(0.001)	.	ENSP00000418648		CCDS43655.2			1	
LPHN2	0	LGGM	GRCh37	1	82421720	82421720	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	4	.	.	ENST00000319517.6:c.1942G>A	p.Val648Ile	p.V648I	ENST00000319517	NM_012302.2	648	Gtc/Atc	0	1		UPI0000458983	0	getma.org/pdb.php?prot=LPHN2_HUMAN&from=530&to=761&var=V661I	ENST00000370717		ENSG00000117114	18582		45	1.63		HGNC	p.V661I		LPHN2		SNV							ENST00000370717	protein_coding	getma.org/?cm=var&var=hg19,1,82421720,G,A&fts=all		hmmpanther:PTHR12011:SF61,hmmpanther:PTHR12011,Pfam_domain:PF12003		V/I		A	low	2197/5918		getma.org/?cm=msa&ty=f&p=LPHN2_HUMAN&rb=530&re=761&var=V661I	tolerated(0.25)	Q9UJ49_HUMAN				LPHN2,missense_variant,p.Val661Ile,ENST00000370728,;LPHN2,missense_variant,p.Val661Ile,ENST00000370730,;LPHN2,missense_variant,p.Val661Ile,ENST00000370717,;LPHN2,missense_variant,p.Val648Ile,ENST00000394879,;LPHN2,missense_variant,p.Val661Ile,ENST00000271029,;LPHN2,missense_variant,p.Val661Ile,ENST00000335786,;LPHN2,missense_variant,p.Val648Ile,ENST00000370715,;LPHN2,missense_variant,p.Val648Ile,ENST00000319517,NM_012302.2;LPHN2,missense_variant,p.Val648Ile,ENST00000370713,;LPHN2,missense_variant,p.Val661Ile,ENST00000370725,;LPHN2,missense_variant,p.Val648Ile,ENST00000370723,;LPHN2,missense_variant,p.Val661Ile,ENST00000370727,;LPHN2,missense_variant,p.Val586Ile,ENST00000370721,;LPHN2,missense_variant,p.Val648Ile,ENST00000359929,;LPHN2,missense_variant,p.Val529Ile,ENST00000449420,;LPHN2,non_coding_transcript_exon_variant,,ENST00000468283,;LPHN2,intron_variant,,ENST00000469377,;							MODERATE	1981/4425	V661I	LPHN2_HUMAN			Transcript		possibly_damaging(0.552)	.	ENSP00000359752					1	
KMT2B	0	LGGM	GRCh37	19	36223792	36223792	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	1	4	.	.	ENST00000222270.7:c.6342G>C	p.Val2114=	p.V2114=	ENST00000222270	NM_014727.1	2114	gtG/gtC	0	1		UPI00001376B5	0		ENST00000420124		ENSG00000272333	15840		5			Uniprot_gn	p.V2114V		KMT2B		SNV							ENST00000222270	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354		V		C		6342/8469								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,;KMT2B,upstream_gene_variant,,ENST00000586308,;							LOW	6342/8148		KMT2B_HUMAN			Transcript			.	ENSP00000398837					1	
IL1RAPL2	0	LGGM	GRCh37	X	105011302	105011302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	61	4	.	.	ENST00000372582.1:c.1709T>A	p.Leu570Gln	p.L570Q	ENST00000372582	NM_017416.1	570	cTg/cAg	0	1	1	UPI0000073DF7	0	NA	ENST00000372582		ENSG00000189108	5997		65	2.175		HGNC	p.L570Q		IL1RAPL2		SNV							ENST00000372582	protein_coding	getma.org/?cm=var&var=hg19,X,105011302,T,A&fts=all		hmmpanther:PTHR11890:SF10,hmmpanther:PTHR11890		L/Q		A	medium	2465/2985		getma.org/?cm=msa&ty=f&p=IRPL2_HUMAN&rb=556&re=686&var=L570Q	deleterious(0)				YES	IL1RAPL2,missense_variant,p.Leu570Gln,ENST00000372582,NM_017416.1;IL1RAPL2,missense_variant,p.Leu570Gln,ENST00000344799,;IL1RAPL2,downstream_gene_variant,,ENST00000485671,;							MODERATE	1709/2061	L570Q	IRPL2_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000361663		CCDS14517.1			1	
RALGAPB	0	LGGM	GRCh37	20	37182703	37182703	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	74	4	.	.	ENST00000262879.6:c.3356C>T	p.Ser1119Phe	p.S1119F	ENST00000262879		1119	tCc/tTc	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		78	1.445		HGNC	p.S947F		RALGAPB		SNV							ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37182703,C,T&fts=all		hmmpanther:PTHR21344,Superfamily_domains:0043732		S/F		T	low	3640/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=1001&re=1200&var=S1119F	deleterious(0)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Ser1119Phe,ENST00000262879,;RALGAPB,missense_variant,p.Ser1115Phe,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Ser897Phe,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Ser1119Phe,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Ser947Phe,ENST00000438490,;							MODERATE	3356/4485	S1119F	RLGPB_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000262879		CCDS13305.1			1	
DTX2	0	LGGM	GRCh37	7	76112433	76112433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	5	.	.	ENST00000324432.5:c.877C>A	p.Pro293Thr	p.P293T	ENST00000324432	NM_020892.2	293	Ccc/Acc	0	1	1	UPI00001413A2	0	NA	ENST00000324432		ENSG00000091073	15973		22	1.39		HGNC	p.P202T		DTX2		SNV							ENST00000446600	protein_coding	getma.org/?cm=var&var=hg19,7,76112433,C,A&fts=all		hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF21		P/T		A	low	1387/2769		getma.org/?cm=msa&ty=f&p=DTX2_HUMAN&rb=175&re=374&var=P293T	deleterious(0.03)	Q75MM6_HUMAN,Q4FEB2_HUMAN,E7ET89_HUMAN,C9JY61_HUMAN,C9JVC8_HUMAN,C9JS11_HUMAN,C9JLU8_HUMAN,C9JII1_HUMAN,C9JF39_HUMAN,C9JEH4_HUMAN			YES	DTX2,missense_variant,p.Pro293Thr,ENST00000324432,NM_020892.2;DTX2,missense_variant,p.Pro293Thr,ENST00000307569,;DTX2,missense_variant,p.Pro293Thr,ENST00000430490,NM_001102594.1;DTX2,missense_variant,p.Pro293Thr,ENST00000413936,NM_001102595.1;DTX2,missense_variant,p.Pro202Thr,ENST00000446600,;DTX2,missense_variant,p.Pro293Thr,ENST00000446820,NM_001102596.1;DTX2,downstream_gene_variant,,ENST00000423646,;DTX2,downstream_gene_variant,,ENST00000457529,;DTX2,downstream_gene_variant,,ENST00000442516,;DTX2,downstream_gene_variant,,ENST00000456590,;DTX2,downstream_gene_variant,,ENST00000425780,;DTX2,downstream_gene_variant,,ENST00000451769,;DTX2,downstream_gene_variant,,ENST00000438930,;DTX2,downstream_gene_variant,,ENST00000429179,;DTX2,downstream_gene_variant,,ENST00000435861,;AC007078.4,upstream_gene_variant,,ENST00000479299,;DTX2,downstream_gene_variant,,ENST00000472426,;DTX2,downstream_gene_variant,,ENST00000492339,;							MODERATE	877/1869	P293T	DTX2_HUMAN			Transcript		benign(0.371)	.	ENSP00000322885		CCDS5587.1			1	
TP63	0	LGGM	GRCh37	3	189584529	189584529	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	109	5	.	.	ENST00000264731.3:c.825T>C	p.Tyr275=	p.Y275=	ENST00000264731	NM_003722.4	275	taT/taC	0	1	1	UPI0000073CF2	0		ENST00000264731		ENSG00000073282	15979		114			HGNC	p.Y181Y	rs773649260	TP63		SNV			1	9.61E-05			ENST00000392461	protein_coding			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8,Gene3D:2.60.40.720,Pfam_domain:PF00870,Superfamily_domains:SSF49417		Y		C		914/4909							YES	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.=,ENST00000418709,NM_001114979.1;TP63,synonymous_variant,p.=,ENST00000437221,NM_001114982.1;TP63,synonymous_variant,p.=,ENST00000320472,;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,synonymous_variant,p.=,ENST00000392461,;TP63,downstream_gene_variant,,ENST00000434928,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;							LOW	825/2043		P63_HUMAN			Transcript			.	ENSP00000264731	8.24E-06	CCDS3293.1			1	
IL10RB	0	LGGM	GRCh37	21	34655526	34655526	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	54	5	.	.	ENST00000290200.2:c.626G>C	p.Cys209Ser	p.C209S	ENST00000290200	NM_000628.4	209	tGt/tCt	0	1	1	UPI0000072ECA	0	getma.org/pdb.php?prot=I10R2_HUMAN&from=111&to=213&var=C209S	ENST00000290200		ENSG00000243646	5965		59	2.93		HGNC	p.C146S		IL10RB		SNV			1				ENST00000451065	protein_coding	getma.org/?cm=var&var=hg19,21,34655526,G,C&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF50,Pfam_domain:PF09294,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		C/S		C	medium	734/1963		getma.org/?cm=msa&ty=f&p=I10R2_HUMAN&rb=111&re=213&var=C209S	deleterious(0)				YES	IL10RB,missense_variant,p.Cys209Ser,ENST00000290200,NM_000628.4;AP000295.9,downstream_gene_variant,,ENST00000433395,;IL10RB,missense_variant,p.Cys146Ser,ENST00000451065,;IL10RB,3_prime_UTR_variant,,ENST00000422891,;IL10RB,non_coding_transcript_exon_variant,,ENST00000493295,;IL10RB,non_coding_transcript_exon_variant,,ENST00000498371,;AP000295.9,downstream_gene_variant,,ENST00000432231,;							MODERATE	626/978	C209S	I10R2_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000290200		CCDS13623.1			1	
SLC16A9	0	LGGM	GRCh37	10	61424062	61424062	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110058	H110058N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	41	5	.	.	ENST00000395348.3:c.359T>A	p.Leu120Ter	p.L120*	ENST00000395348	NM_194298.2	120	tTa/tAa	0	1		UPI000004D33D	0	NA	ENST00000395347		ENSG00000165449	23520		46	0		HGNC	p.L120X		SLC16A9		SNV							ENST00000395348	protein_coding	getma.org/?cm=var&var=hg19,10,61424062,A,T&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix		L/*		T	NA	468/3646		NA						SLC16A9,stop_gained,p.Leu120Ter,ENST00000395348,NM_194298.2;SLC16A9,stop_gained,p.Leu120Ter,ENST00000395347,;							HIGH	359/1530	L120*	MOT9_HUMAN			Transcript			.	ENSP00000378756		CCDS7256.1			1	
KRI1	0	LGGM	GRCh37	19	10668228	10668228	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	9	5	.	.	ENST00000312962.6:c.1635G>A	p.Glu545=	p.E545=	ENST00000312962	NM_023008.3	545	gaG/gaA	0	1	1	UPI0000246DCC	0		ENST00000312962		ENSG00000129347	25769		14			HGNC	p.E541E		KRI1		SNV							ENST00000361821	protein_coding			Pfam_domain:PF12936,hmmpanther:PTHR14490		E		T		1655/3016							YES	KRI1,splice_region_variant,p.=,ENST00000312962,NM_023008.3;KRI1,splice_region_variant,p.=,ENST00000361821,;KRI1,synonymous_variant,p.=,ENST00000539027,;ATG4D,downstream_gene_variant,,ENST00000309469,NM_032885.5,NM_001281504.1;ATG4D,downstream_gene_variant,,ENST00000540862,;ATG4D,downstream_gene_variant,,ENST00000588972,;KRI1,downstream_gene_variant,,ENST00000543682,;ATG4D,downstream_gene_variant,,ENST00000585437,;KRI1,downstream_gene_variant,,ENST00000537964,;KRI1,splice_region_variant,,ENST00000536689,;KRI1,splice_region_variant,,ENST00000478863,;KRI1,splice_region_variant,,ENST00000537363,;KRI1,splice_region_variant,,ENST00000537433,;KRI1,splice_region_variant,,ENST00000543842,;ATG4D,downstream_gene_variant,,ENST00000586417,;ATG4D,downstream_gene_variant,,ENST00000588667,;ATG4D,downstream_gene_variant,,ENST00000588857,;ATG4D,downstream_gene_variant,,ENST00000589753,;KRI1,downstream_gene_variant,,ENST00000432197,;KRI1,downstream_gene_variant,,ENST00000536714,;KRI1,downstream_gene_variant,,ENST00000546063,;KRI1,downstream_gene_variant,,ENST00000544397,;							LOW	1635/2130		KRI1_HUMAN			Transcript			.	ENSP00000320917		CCDS12242.1			1	
SACS	0	LGGM	GRCh37	13	23908998	23908998	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110058	H110058N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	58	6	.	.	ENST00000382298.3:c.9017T>A	p.Leu3006Ter	p.L3006*	ENST00000382298	NM_014363.5	3006	tTg/tAg	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		64	0		HGNC	p.L2256X		SACS		SNV			1				ENST00000402364	protein_coding	getma.org/?cm=var&var=hg19,13,23908998,A,T&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		L/*		T	NA	9291/15324		NA						SACS,stop_gained,p.Leu3006Ter,ENST00000382298,NM_014363.5;SACS,stop_gained,p.Leu3006Ter,ENST00000382292,;SACS,stop_gained,p.Leu2256Ter,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							HIGH	9017/13740	L3006*	SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
RXFP1	0	LGGM	GRCh37	4	159573165	159573165	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	33	6	.	.	ENST00000307765.5:c.2232G>A	p.Met744Ile	p.M744I	ENST00000307765	NM_001253728.1	744	atG/atA	0	1	1	UPI000013EC4B	0	NA	ENST00000307765		ENSG00000171509	19718		39	0.345		HGNC	p.M696I		RXFP1		SNV							ENST00000343542	protein_coding	getma.org/?cm=var&var=hg19,4,159573165,G,A&fts=all				M/I		A	neutral	2483/3842		getma.org/?cm=msa&ty=f&p=RXFP1_HUMAN&rb=682&re=757&var=M744I	tolerated_low_confidence(0.3)	Q4W5D9_HUMAN,E9PCA3_HUMAN			YES	RXFP1,missense_variant,p.Met744Ile,ENST00000307765,NM_001253728.1,NM_001253730.1,NM_001253733.1,NM_001253732.1,NM_021634.3,NM_001253727.1;RXFP1,missense_variant,p.Met639Ile,ENST00000448688,;RXFP1,missense_variant,p.Met663Ile,ENST00000460056,;RXFP1,missense_variant,p.Met711Ile,ENST00000470033,;RXFP1,missense_variant,p.Met696Ile,ENST00000343542,NM_001253729.1;RXFP1,3_prime_UTR_variant,,ENST00000342048,;							MODERATE	2232/2274	M744I	RXFP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000303248		CCDS43276.1			1	
AHDC1	0	LGGM	GRCh37	1	27876108	27876108	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110058	H110058N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	15	6	.	.	ENST00000374011.2:c.2519T>A	p.Phe840Tyr	p.F840Y	ENST00000374011	NM_001029882.2	840	tTt/tAt	0	1		UPI0000418EA1	0	NA	ENST00000247087		ENSG00000126705	25230		21	0.695		HGNC	p.F840Y		AHDC1		SNV			1				ENST00000247087	protein_coding	getma.org/?cm=var&var=hg19,1,27876108,A,T&fts=all		hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1,Low_complexity_(Seg):seg		F/Y		T	neutral	3116/6334		getma.org/?cm=msa&ty=f&p=AHDC1_HUMAN&rb=661&re=859&var=F840Y	deleterious(0.04)					AHDC1,missense_variant,p.Phe840Tyr,ENST00000374011,NM_001029882.2;AHDC1,missense_variant,p.Phe840Tyr,ENST00000247087,;AHDC1,downstream_gene_variant,,ENST00000490295,;AHDC1,downstream_gene_variant,,ENST00000487743,;							MODERATE	2519/4812	F840Y	AHDC1_HUMAN			Transcript		benign(0.294)	.	ENSP00000247087		CCDS30652.1			1	
IGHA1	0	LGGM	GRCh37	14	106174193	106174193	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	9	6	.	.	ENST00000390547.2:c.596G>A	p.Gly199Glu	p.G199E	ENST00000390547		199	gGg/gAg	0	1	1	UPI000004718D	0		ENST00000390547		ENSG00000211895	5478		15			HGNC	p.G199E		IGHA1		SNV							ENST00000390547	IG_C_gene			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF68,Superfamily_domains:SSF48726		G/E		T		596/1110			deleterious(0.01)	Q9UP60_HUMAN,Q96K68_HUMAN,Q8NCL6_HUMAN,Q6MZW0_HUMAN			YES	IGHA1,missense_variant,p.Gly199Glu,ENST00000390547,;AL928768.3,upstream_gene_variant,,ENST00000497872,;AL901608.1,downstream_gene_variant,,ENST00000581070,;							MODERATE	596/1062		IGHA1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000374989					1	
ZNF516	0	LGGM	GRCh37	18	74153953	74153953	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	17	7	.	.	ENST00000443185.2:c.1058A>T	p.His353Leu	p.H353L	ENST00000443185	NM_014643.3	353	cAc/cTc	0	1	1	UPI00001394A1	0		ENST00000443185		ENSG00000101493	28990		24			HGNC	p.H353L		ZNF516		SNV							ENST00000443185	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,PROSITE_patterns:PS00028,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF3,PROSITE_profiles:PS50157		H/L		A		1376/8619			deleterious(0)	F5H2K2_HUMAN			YES	ZNF516,missense_variant,p.His353Leu,ENST00000443185,NM_014643.3;ZNF516,downstream_gene_variant,,ENST00000532857,;ZNF516,non_coding_transcript_exon_variant,,ENST00000524431,;							MODERATE	1058/3492		ZN516_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000394757					1	
PRKAG2	0	LGGM	GRCh37	7	151483605	151483605	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	1	7	.	.	ENST00000287878.4:c.137C>A	p.Pro46Gln	p.P46Q	ENST00000287878	NM_016203.3	46	cCg/cAg	0	1	1	UPI00001250B5	0	NA	ENST00000287878		ENSG00000106617	9386		8	0.805		HGNC	p.P2Q	rs373477232	PRKAG2		SNV	A:0.0002		1				ENST00000392801	protein_coding	getma.org/?cm=var&var=hg19,7,151483605,G,T&fts=all				P/Q	A:0	T	low	642/3305		getma.org/?cm=msa&ty=f&p=AAKG2_HUMAN&rb=1&re=200&var=P46Q	deleterious_low_confidence(0)	C9JUG1_HUMAN			YES	PRKAG2,missense_variant,p.Pro46Gln,ENST00000287878,NM_016203.3;PRKAG2,missense_variant,p.Pro2Gln,ENST00000392801,NM_001040633.1;PRKAG2,non_coding_transcript_exon_variant,,ENST00000461529,;PRKAG2,missense_variant,p.Pro46Gln,ENST00000488258,;PRKAG2,non_coding_transcript_exon_variant,,ENST00000481434,;	0.000133						MODERATE	137/1710	P46Q	AAKG2_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000287878	8.24E-06	CCDS5928.1			1	
PRRC2C	0	LGGM	GRCh37	1	171553562	171553562	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	36	9	.	.	ENST00000338920.4:c.7640G>A	p.Arg2547Lys	p.R2547K	ENST00000338920	NM_015172.3	2547	aGa/aAa	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		45	1.845		HGNC	p.R2482K		PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171553562,G,A&fts=all		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		R/K		A	low	7877/10355		getma.org/?cm=msa&ty=f&p=PRC2C_HUMAN&rb=2365&re=2564&var=R2547K					YES	PRRC2C,missense_variant,p.Arg2549Lys,ENST00000367742,;PRRC2C,missense_variant,p.Arg2547Lys,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Arg2549Lys,ENST00000392078,;PRRC2C,missense_variant,p.Arg2482Lys,ENST00000426496,;PRRC2C,missense_variant,p.Arg1030Lys,ENST00000495585,;PRRC2C,upstream_gene_variant,,ENST00000498596,;PRRC2C,upstream_gene_variant,,ENST00000492811,;							MODERATE	7640/8454	R2547K	PRC2C_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000343629		CCDS1296.2			1	
PFKFB3	0	LGGM	GRCh37	10	6261507	6261507	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	32	9	.	.	ENST00000379775.4:c.499-25C>T		*167*	ENST00000379775	NM_004566.3			0	1	1	UPI0000001082	0		ENST00000379775		ENSG00000170525	8874		41			HGNC	p.S155L	rs754162355	PFKFB3		SNV							ENST00000536985	protein_coding							T		-/4483	1.50E-05			Q9UBT0_HUMAN,Q5VX18_HUMAN			YES	PFKFB3,missense_variant,p.Ser155Leu,ENST00000536985,;PFKFB3,intron_variant,,ENST00000379775,NM_004566.3;PFKFB3,intron_variant,,ENST00000379789,NM_001145443.1;PFKFB3,intron_variant,,ENST00000379785,;PFKFB3,intron_variant,,ENST00000540253,NM_001282630.1;PFKFB3,intron_variant,,ENST00000317350,;PFKFB3,intron_variant,,ENST00000379782,;PFKFB3,intron_variant,,ENST00000360521,;PFKFB3,upstream_gene_variant,,ENST00000450232,;PFKFB3,upstream_gene_variant,,ENST00000414237,;PFKFB3,upstream_gene_variant,,ENST00000441697,;PFKFB3,intron_variant,,ENST00000467491,;PFKFB3,intron_variant,,ENST00000461744,;PFKFB3,intron_variant,,ENST00000490474,;PFKFB3,intron_variant,,ENST00000477914,;PFKFB3,upstream_gene_variant,,ENST00000487989,;PFKFB3,upstream_gene_variant,,ENST00000475881,;							MODIFIER	-/1563		F263_HUMAN			Transcript			.	ENSP00000369100	8.24E-06	CCDS7078.1			1	
SLC2A14	0	LGGM	GRCh37	12	7966993	7966993	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	55	9	.	.	ENST00000543909.1:c.1482C>T	p.His494=	p.H494=	ENST00000543909	NM_001286233.1	494	caC/caT	0	1		UPI000006D325	0		ENST00000396589		ENSG00000173262	18301	8.67E-05	64			HGNC	p.H135H	rs368992724	SLC2A14	0.000121	SNV	A:0			9.62E-05			ENST00000542505	protein_coding		A:0.0008	hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063		H	A:0.0001	A		1739/2335	0.00018			F5H6F6_HUMAN,F5GXP7_HUMAN	A:0	A:0		SLC2A14,synonymous_variant,p.=,ENST00000543909,NM_001286233.1;SLC2A14,synonymous_variant,p.=,ENST00000340749,NM_001286235.1;SLC2A14,synonymous_variant,p.=,ENST00000431042,NM_001286234.1;SLC2A14,synonymous_variant,p.=,ENST00000396589,NM_153449.2;SLC2A14,synonymous_variant,p.=,ENST00000539924,NM_001286237.1;SLC2A14,synonymous_variant,p.=,ENST00000535295,;SLC2A14,synonymous_variant,p.=,ENST00000542505,;SLC2A14,synonymous_variant,p.=,ENST00000542546,;							LOW	1482/1563		GTR14_HUMAN		A:0	Transcript			.	ENSP00000379834	0.000132	CCDS8585.1		A:0	1	
SCMH1	0	LGGM	GRCh37	1	41608680	41608680	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	50	10	.	.	ENST00000402904.2:c.252A>T	p.Thr84=	p.T84=	ENST00000402904	NM_001031694.2	84	acA/acT	0	1		UPI000006FD9B	0		ENST00000326197		ENSG00000010803	19003		60			HGNC	p.T37T		SCMH1		SNV							ENST00000456518	protein_coding			PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68,Pfam_domain:PF02820,Gene3D:2.30.30.160,SMART_domains:SM00561,Superfamily_domains:SSF63748		T		A		552/3275								SCMH1,synonymous_variant,p.=,ENST00000402904,NM_001031694.2;SCMH1,synonymous_variant,p.=,ENST00000372596,NM_001172218.1;SCMH1,synonymous_variant,p.=,ENST00000397174,;SCMH1,synonymous_variant,p.=,ENST00000326197,;SCMH1,synonymous_variant,p.=,ENST00000372597,NM_012236.3,NM_001172220.1;SCMH1,synonymous_variant,p.=,ENST00000372595,NM_001172221.1;SCMH1,synonymous_variant,p.=,ENST00000397171,;SCMH1,synonymous_variant,p.=,ENST00000361705,;SCMH1,synonymous_variant,p.=,ENST00000337495,NM_001172219.1;SCMH1,synonymous_variant,p.=,ENST00000361191,;SCMH1,synonymous_variant,p.=,ENST00000456518,NM_001172222.1;							LOW	252/1983		SCMH1_HUMAN			Transcript			.	ENSP00000318094		CCDS30688.1			1	
PIGT	0	LGGM	GRCh37	20	44053199	44053199	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	24	10	.	.	ENST00000279036.6:c.1464G>C	p.Glu488Asp	p.E488D	ENST00000279036	NM_015937.5	488	gaG/gaC	0	1	1	UPI000003B0D0	0	NA	ENST00000279036		ENSG00000124155	14938		34	1.06		HGNC	p.E333D		PIGT		SNV			1				ENST00000535404	protein_coding	getma.org/?cm=var&var=hg19,20,44053199,G,C&fts=all		Pfam_domain:PF04113,hmmpanther:PTHR12959,hmmpanther:PTHR12959:SF11		E/D		C	low	1544/2235		getma.org/?cm=msa&ty=f&p=PIGT_HUMAN&rb=248&re=572&var=E488D	tolerated(0.49)	B7Z1N3_HUMAN			YES	PIGT,missense_variant,p.Glu488Asp,ENST00000279036,NM_015937.5;PIGT,missense_variant,p.Glu432Asp,ENST00000543458,NM_001184728.2;PIGT,missense_variant,p.Glu421Asp,ENST00000372689,NM_001184729.2;PIGT,missense_variant,p.Glu386Asp,ENST00000279035,NM_001184730.2;PIGT,missense_variant,p.Glu333Asp,ENST00000535404,;PIGT,missense_variant,p.Glu294Asp,ENST00000341555,;PIGT,missense_variant,p.Glu226Asp,ENST00000545755,;PIGT,downstream_gene_variant,,ENST00000432270,;PIGT,3_prime_UTR_variant,,ENST00000455050,;							MODERATE	1464/1737	E488D	PIGT_HUMAN			Transcript		benign(0.02)	.	ENSP00000279036		CCDS13353.1			1	
F2RL1	0	LGGM	GRCh37	5	76129413	76129413	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	244	10	.	.	ENST00000296677.4:c.981T>A	p.Ile327=	p.I327=	ENST00000296677	NM_005242.4	327	atT/atA	0	1	1	UPI000013E36E	0		ENST00000296677		ENSG00000164251	3538		254			HGNC	p.I327I	rs777222086	F2RL1		SNV							ENST00000296677	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF21,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I		A		1187/2914	1.50E-05			D6RJH3_HUMAN			YES	F2RL1,synonymous_variant,p.=,ENST00000296677,NM_005242.4;F2RL1,downstream_gene_variant,,ENST00000514165,;RN7SL208P,downstream_gene_variant,,ENST00000577964,;							LOW	981/1194		PAR2_HUMAN			Transcript			.	ENSP00000296677	8.24E-06	CCDS4033.1			1	
ATP13A5	0	LGGM	GRCh37	3	193051646	193051646	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	22	12	.	.	ENST00000342358.4:c.1165C>A	p.Pro389Thr	p.P389T	ENST00000342358	NM_198505.2	389	Cct/Act	0	1	1	UPI000050EC1D	0	getma.org/pdb.php?prot=AT135_HUMAN&from=229&to=475&var=P389T	ENST00000342358		ENSG00000187527	31789		34	3.175		HGNC	p.P389T		ATP13A5		SNV							ENST00000342358	protein_coding	getma.org/?cm=var&var=hg19,3,193051646,G,T&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01657,hmmpanther:PTHR24093:SF237,hmmpanther:PTHR24093		P/T		T	medium	1283/4027		getma.org/?cm=msa&ty=f&p=AT135_HUMAN&rb=229&re=475&var=P389T	deleterious(0)				YES	ATP13A5,missense_variant,p.Pro389Thr,ENST00000342358,NM_198505.2;							MODERATE	1165/3657	P389T	AT135_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341942		CCDS33914.1			1	
RNF14	0	LGGM	GRCh37	5	141359704	141359704	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110058	H110058N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	40	13	.	.	ENST00000394520.2:c.851A>G	p.Glu284Gly	p.E284G	ENST00000394520	NM_004290.4	284	gAa/gGa	0	1		UPI0000134319	0	NA	ENST00000347642		ENSG00000013561	10058		53	-1.455		HGNC	p.E108G		RNF14		SNV							ENST00000394515	protein_coding	getma.org/?cm=var&var=hg19,5,141359704,A,G&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF7,Superfamily_domains:SSF57850		E/G		G	neutral	968/2937		getma.org/?cm=msa&ty=f&p=RNF14_HUMAN&rb=135&re=288&var=E284G	tolerated(0.97)	D6RDU6_HUMAN,D6RBU3_HUMAN,D6RAS4_HUMAN,D6RA38_HUMAN,D6R996_HUMAN,D6R988_HUMAN				RNF14,missense_variant,p.Glu284Gly,ENST00000394520,NM_004290.4,NM_001201365.1;RNF14,missense_variant,p.Glu284Gly,ENST00000394519,NM_183401.2;RNF14,missense_variant,p.Glu284Gly,ENST00000347642,NM_183400.2;RNF14,missense_variant,p.Glu158Gly,ENST00000394514,NM_183398.2;RNF14,missense_variant,p.Glu284Gly,ENST00000356143,NM_183399.2;RNF14,missense_variant,p.Glu108Gly,ENST00000394515,;RNF14,intron_variant,,ENST00000540015,;RNF14,intron_variant,,ENST00000512565,;RNF14,downstream_gene_variant,,ENST00000511961,;RNF14,downstream_gene_variant,,ENST00000507163,;RNF14,downstream_gene_variant,,ENST00000506822,;RNF14,downstream_gene_variant,,ENST00000506938,;AC005740.5,intron_variant,,ENST00000520882,;RNF14,non_coding_transcript_exon_variant,,ENST00000514620,;RNF14,downstream_gene_variant,,ENST00000502341,;RNF14,synonymous_variant,p.=,ENST00000515613,;							MODERATE	851/1425	E284G	RNF14_HUMAN			Transcript		benign(0)	.	ENSP00000324956		CCDS4270.1			1	
MYH8	0	LGGM	GRCh37	17	10312724	10312724	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	52	16	.	.	ENST00000403437.2:c.1769A>G	p.Asp590Gly	p.D590G	ENST00000403437	NM_002472.2	590	gAc/gGc	0	1	1	UPI000012FB7D	0	getma.org/pdb.php?prot=MYH8_HUMAN&from=90&to=769&var=D590G	ENST00000403437		ENSG00000133020	7578		68	1.69		HGNC	p.D590G		MYH8		SNV			1				ENST00000403437	protein_coding	getma.org/?cm=var&var=hg19,17,10312724,T,C&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF340,SMART_domains:SM00242,Superfamily_domains:SSF52540		D/G		C	low	1864/6041		getma.org/?cm=msa&ty=f&p=MYH8_HUMAN&rb=90&re=769&var=D590G	tolerated(0.12)				YES	MYH8,missense_variant,p.Asp590Gly,ENST00000403437,NM_002472.2;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							MODERATE	1769/5814	D590G	MYH8_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000384330		CCDS11153.1			1	
ZNF160	0	LGGM	GRCh37	19	53571569	53571569	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	73	16	.	.	ENST00000429604.1:c.2218A>G	p.Lys740Glu	p.K740E	ENST00000429604	NM_198893.2	740	Aag/Gag	0	1		UPI0000202B37	0	getma.org/pdb.php?prot=ZN160_HUMAN&from=719&to=744&var=K740E	ENST00000418871		ENSG00000170949	12948		89	1.94		HGNC	p.K740E		ZNF160		SNV							ENST00000418871	protein_coding	getma.org/?cm=var&var=hg19,19,53571569,T,C&fts=all		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		K/E		C	medium	2517/4219		getma.org/?cm=msa&ty=f&p=ZN160_HUMAN&rb=699&re=764&var=K740E	deleterious(0.02)	M0QZI7_HUMAN,M0QZ49_HUMAN,M0QXU9_HUMAN				ZNF160,missense_variant,p.Lys704Glu,ENST00000601421,;ZNF160,missense_variant,p.Lys740Glu,ENST00000429604,NM_198893.2,NM_001102603.1;ZNF160,missense_variant,p.Lys740Glu,ENST00000599056,;ZNF160,missense_variant,p.Lys740Glu,ENST00000418871,NM_033288.3;ZNF160,downstream_gene_variant,,ENST00000599247,;ZNF160,downstream_gene_variant,,ENST00000355147,;ZNF160,downstream_gene_variant,,ENST00000601982,;							MODERATE	2218/2457	K740E	ZN160_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000409597		CCDS12859.1			1	
PRELP	0	LGGM	GRCh37	1	203452320	203452320	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	58	17	.	.	ENST00000343110.2:c.8C>A	p.Ser3Ter	p.S3*	ENST00000343110	NM_201348.1	3	tCa/tAa	0	1	1	UPI000013222E	0	NA	ENST00000343110		ENSG00000188783	9357		75	0		HGNC	p.S3X		PRELP		SNV							ENST00000343110	protein_coding	getma.org/?cm=var&var=hg19,1,203452320,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM		S/*		A	NA	135/5747		NA		Q7Z4B2_HUMAN			YES	PRELP,stop_gained,p.Ser3Ter,ENST00000343110,NM_201348.1,NM_002725.3;							HIGH	8/1149	S3*	PRELP_HUMAN			Transcript			.	ENSP00000343924		CCDS1438.1			1	
FANCF	0	LGGM	GRCh37	11	22646232	22646232	+	stop_retained_variant	Silent	SNP	C	C	T	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	35	18	.	.	ENST00000327470.3:c.1125G>A	p.Ter375=	p.*375=	ENST00000327470	NM_022725.3	375	taG/taA	0	1	1	UPI000012A4CA	0		ENST00000327470		ENSG00000183161	3587		53			HGNC	p.X375X		FANCF		SNV			1				ENST00000327470	protein_coding					*		T		1156/3309				A3KME0_HUMAN			YES	FANCF,stop_retained_variant,p.=,ENST00000327470,NM_022725.3;GAS2,upstream_gene_variant,,ENST00000528582,;AC103801.2,upstream_gene_variant,,ENST00000428556,;							LOW	1125/1125		FANCF_HUMAN			Transcript			.	ENSP00000330875		CCDS7857.1			1	
PQLC1	0	LGGM	GRCh37	18	77703463	77703463	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	29	19	.	.	ENST00000397778.2:c.204-1G>T		p.X68_splice	ENST00000397778	NM_025078.4			0	1	1	UPI0000073855	0		ENST00000397778		ENSG00000122490	26188		48			HGNC	-		PQLC1		SNV							ENST00000397778	protein_coding							A		-/2555				K7ERD3_HUMAN,B3KW14_HUMAN			YES	PQLC1,splice_acceptor_variant,,ENST00000397778,NM_025078.4;PQLC1,splice_acceptor_variant,,ENST00000357575,NM_001146345.1;PQLC1,splice_acceptor_variant,,ENST00000409073,;PQLC1,splice_acceptor_variant,,ENST00000590381,NM_001146343.1;PQLC1,splice_acceptor_variant,,ENST00000478144,;PQLC1,splice_acceptor_variant,,ENST00000494607,;PQLC1,upstream_gene_variant,,ENST00000469369,;PQLC1,splice_acceptor_variant,,ENST00000351365,;PQLC1,splice_acceptor_variant,,ENST00000474967,;PQLC1,splice_acceptor_variant,,ENST00000591964,;PQLC1,splice_acceptor_variant,,ENST00000593030,;PQLC1,splice_acceptor_variant,,ENST00000589452,;PQLC1,non_coding_transcript_exon_variant,,ENST00000466449,;							HIGH	204/816		PQLC1_HUMAN			Transcript			.	ENSP00000380880		CCDS12020.1			1	
DOCK5	0	LGGM	GRCh37	8	25261102	25261102	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	103	20	.	.	ENST00000276440.7:c.4955G>C	p.Ser1652Thr	p.S1652T	ENST00000276440	NM_024940.6	1652	aGc/aCc	0	1	1	UPI000022D4F3	0	NA	ENST00000276440		ENSG00000147459	23476		123	1.735		HGNC	p.S1652T		DOCK5		SNV							ENST00000276440	protein_coding	getma.org/?cm=var&var=hg19,8,25261102,G,C&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68		S/T		C	low	4999/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=1636&re=1707&var=S1652T	tolerated(0.28)				YES	DOCK5,missense_variant,p.Ser1652Thr,ENST00000276440,NM_024940.6;DOCK5,3_prime_UTR_variant,,ENST00000467709,;							MODERATE	4955/5613	S1652T	DOCK5_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000276440		CCDS6047.1			1	
GPR98	0	LGGM	GRCh37	5	90281181	90281181	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110058	H110058N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	54	24	.	.	ENST00000405460.2:c.17994G>T	p.Val5998=	p.V5998=	ENST00000405460	NM_032119.3	5998	gtG/gtT	0	1	1	UPI00002127A7	0		ENST00000405460		ENSG00000164199	17416		78			HGNC	p.V5998V		GPR98		SNV			1				ENST00000405460	protein_coding			Pfam_domain:PF00002,PROSITE_profiles:PS50261,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Transmembrane_helices:TMhelix		V		T		18090/19338							YES	GPR98,synonymous_variant,p.=,ENST00000405460,NM_032119.3;GPR98,synonymous_variant,p.=,ENST00000425867,;							LOW	17994/18921		GPR98_HUMAN			Transcript			.	ENSP00000384582		CCDS47246.1			1	
RTKN2	0	LGGM	GRCh37	10	63958002	63958002	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110058	H110058N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	58	26	.	.	ENST00000373789.3:c.1495G>T	p.Gly499Trp	p.G499W	ENST00000373789	NM_145307.2	499	Ggg/Tgg	0	1	1	UPI000007413A	0	NA	ENST00000373789		ENSG00000182010	19364		84	1.67		HGNC	p.G499W		RTKN2		SNV							ENST00000373789	protein_coding	getma.org/?cm=var&var=hg19,10,63958002,C,A&fts=all				G/W		A	low	1592/6641		getma.org/?cm=msa&ty=f&p=RTKN2_HUMAN&rb=393&re=592&var=G499W	deleterious(0.01)				YES	RTKN2,missense_variant,p.Gly499Trp,ENST00000373789,NM_145307.2;RTKN2,intron_variant,,ENST00000315289,;RTKN2,intron_variant,,ENST00000395265,;							MODERATE	1495/1830	G499W	RTKN2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000362894		CCDS7263.1			1	
RTKN2	0	LGGM	GRCh37	10	63958003	63958003	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	57	26	.	.	ENST00000373789.3:c.1494A>T	p.Lys498Asn	p.K498N	ENST00000373789	NM_145307.2	498	aaA/aaT	0	1	1	UPI000007413A	0	NA	ENST00000373789		ENSG00000182010	19364		83	1.845		HGNC	p.K498N		RTKN2		SNV							ENST00000373789	protein_coding	getma.org/?cm=var&var=hg19,10,63958003,T,A&fts=all				K/N		A	low	1591/6641		getma.org/?cm=msa&ty=f&p=RTKN2_HUMAN&rb=393&re=592&var=K498N	tolerated(0.07)				YES	RTKN2,missense_variant,p.Lys498Asn,ENST00000373789,NM_145307.2;RTKN2,intron_variant,,ENST00000315289,;RTKN2,intron_variant,,ENST00000395265,;							MODERATE	1494/1830	K498N	RTKN2_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000362894		CCDS7263.1			1	
NEFH	0	LGGM	GRCh37	22	29885859	29885876	+	inframe_deletion	In_Frame_Del	DEL	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG	-	novel	by Submitter	H110058	H110058N.bam	GCTAAGTCCCCAGAGAAG	GCTAAGTCCCCAGAGAAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	76	29	.	.	ENST00000310624.6:c.2232_2249delTAAGTCCCCAGAGAAGGC	p.Ser752_Lys757del	p.S752_K757del	ENST00000310624	NM_021076.3	744	GCTAAGTCCCCAGAGAAG/-	0	1	1	UPI00001AEF71	0		ENST00000310624	not_provided	ENSG00000100285	7737		105			HGNC	p.744_749del	rs59890097,HIFD_NEFH:c.2230_2247del18,COSM1291235	NEFH		deletion	-:0.5826,-:0.5826		1			1,0,1	ENST00000310624	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214		AKSPEK/-	-:0.5309,-:0.5309	-		2263-2280/3783							YES	NEFH,inframe_deletion,p.Ser752_Lys757del,ENST00000310624,NM_021076.3;		-:0.0330			0,0,1		MODERATE	2230-2247/3063		NFH_HUMAN			Transcript	2		.	ENSP00000311997		CCDS13858.1			1	
RB1	0	LGGM	GRCh37	13	48934191	48934191	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	28	42	.	.	ENST00000267163.4:c.648del	p.Gln217SerfsTer2	p.Q217Sfs*2	ENST00000267163	NM_000321.2	216	Ttt/tt	0	1	1	UPI0000001C79	0		ENST00000267163		ENSG00000139687	9884		70			HGNC	p.F216fs		RB1		deletion			1				ENST00000267163	protein_coding			hmmpanther:PTHR13742,Pfam_domain:PF11934		F/X		-		784/4840				Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,frameshift_variant,p.Gln217SerfsTer2,ENST00000267163,NM_000321.2;RB1,3_prime_UTR_variant,,ENST00000467505,;RB1,non_coding_transcript_exon_variant,,ENST00000525036,;							HIGH	646/2787		RB_HUMAN			Transcript	2		.	ENSP00000267163		CCDS31973.1			1	
LRRC37A3	0	LGGM	GRCh37	17	62856300	62856300	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110058	H110058N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110058N.bam, H110058T.bam	Illumina HiSeq	146	46	.	.	ENST00000584306.1:c.3964A>C	p.Lys1322Gln	p.K1322Q	ENST00000584306	NM_199340.2	1322	Aaa/Caa	0	1		UPI00005B2F0A	0	NA	ENST00000319651		ENSG00000176809	32427		192	1.32		HGNC	p.K360Q		LRRC37A3		SNV							ENST00000400877	protein_coding	getma.org/?cm=var&var=hg19,17,62856300,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23045		K/Q		G	low	4367/5537		getma.org/?cm=msa&ty=f&p=L37A3_HUMAN&rb=977&re=1632&var=K1322Q	deleterious(0.01)	F8W7X0_HUMAN,B4DSF2_HUMAN				LRRC37A3,missense_variant,p.Lys1322Gln,ENST00000584306,NM_199340.2;LRRC37A3,missense_variant,p.Lys1322Gln,ENST00000319651,;LRRC37A3,missense_variant,p.Lys360Gln,ENST00000400877,;LRRC37A3,missense_variant,p.Lys299Gln,ENST00000334962,;LRRC37A3,missense_variant,p.Lys440Gln,ENST00000339474,;LRRC37A3,downstream_gene_variant,,ENST00000581368,;LRRC37A3,downstream_gene_variant,,ENST00000584788,;LRRC37A3,upstream_gene_variant,,ENST00000583510,;LRRC37A3,downstream_gene_variant,,ENST00000579305,;							MODERATE	3964/4905	K1322Q	L37A3_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000325713		CCDS32708.1			1	
TRAPPC13	0	LGGM	GRCh37	5	64933521	64933521	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	5	2	.	.	ENST00000438419.2:c.216-2A>T		p.X72_splice	ENST00000438419				0	1		UPI000020C82F	0		ENST00000399438		ENSG00000113597	25828		7			HGNC	-		TRAPPC13		SNV							ENST00000399438	protein_coding							T		-/3221								TRAPPC13,splice_acceptor_variant,,ENST00000399438,NM_001093755.1,NM_024941.3;TRAPPC13,splice_acceptor_variant,,ENST00000545191,;TRAPPC13,splice_acceptor_variant,,ENST00000231526,NM_001243737.1,NM_001093756.1;TRAPPC13,splice_acceptor_variant,,ENST00000438419,;TRAPPC13,splice_acceptor_variant,,ENST00000505553,;TRAPPC13,splice_acceptor_variant,,ENST00000512009,;TRAPPC13,splice_acceptor_variant,,ENST00000508304,;TRAPPC13,intron_variant,,ENST00000504243,;TRAPPC13,intron_variant,,ENST00000504751,;							HIGH	216/1254		TPC13_HUMAN			Transcript			.	ENSP00000382367		CCDS47222.1			1	
NEXN	0	LGGM	GRCh37	1	78392112	78392112	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	5	2	.	.	ENST00000334785.7:c.503C>A	p.Ser168Ter	p.S168*	ENST00000334785	NM_144573.3	168	tCa/tAa	0	1	1	UPI000022ABDC	0	NA	ENST00000334785		ENSG00000162614	29557		7	0		HGNC	p.S154X		NEXN		SNV			1				ENST00000457030	protein_coding	getma.org/?cm=var&var=hg19,1,78392112,C,A&fts=all		hmmpanther:PTHR22964		S/*		A	NA	687/2607		NA		B4DDI0_HUMAN			YES	NEXN,stop_gained,p.Ser104Ter,ENST00000330010,NM_001172309.1;NEXN,stop_gained,p.Ser68Ter,ENST00000342754,;NEXN,stop_gained,p.Ser168Ter,ENST00000334785,NM_144573.3;NEXN,stop_gained,p.Ser154Ter,ENST00000457030,;NEXN,stop_gained,p.Ser154Ter,ENST00000440324,;NEXN,stop_gained,p.Ser104Ter,ENST00000401035,;NEXN,downstream_gene_variant,,ENST00000294624,;NEXN,upstream_gene_variant,,ENST00000464998,;							HIGH	503/2028	S168*	NEXN_HUMAN			Transcript			.	ENSP00000333938		CCDS41351.1			1	
AKR1C2	0	LGGM	GRCh37	10	5038055	5038055	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	6	2	.	.	ENST00000380753.4:c.573G>T	p.Val191=	p.V191=	ENST00000380753	NM_205845.2	191	gtG/gtT	0	1	1	UPI0000111D9F	0		ENST00000380753		ENSG00000151632	385		8			HGNC	p.V191V		AKR1C2		SNV			1				ENST00000380753	protein_coding			Prints_domain:PR00069,Superfamily_domains:SSF51430,PIRSF_domain:PIRSF000097,Pfam_domain:PF00248,Gene3D:3.20.20.100,hmmpanther:PTHR11732:SF153,hmmpanther:PTHR11732		V		A		761/3381				S4R3P0_HUMAN			YES	AKR1C2,splice_region_variant,p.=,ENST00000380753,NM_205845.2;AKR1C2,splice_region_variant,p.=,ENST00000407674,NM_001354.5;AKR1C2,splice_region_variant,p.=,ENST00000421196,;AKR1C2,splice_region_variant,p.=,ENST00000604507,;AKR1C2,downstream_gene_variant,,ENST00000455190,NM_001135241.2;RP11-499O7.7,intron_variant,,ENST00000451575,;RP11-499O7.7,upstream_gene_variant,,ENST00000440414,;AKR1C2,downstream_gene_variant,,ENST00000604184,;AKR1C2,splice_region_variant,,ENST00000460124,;							LOW	573/972		AK1C2_HUMAN			Transcript			.	ENSP00000370129		CCDS7062.1			1	
TLN2	0	LGGM	GRCh37	15	63029265	63029265	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	21	2	.	.	ENST00000561311.1:c.3547C>A	p.Arg1183Ser	p.R1183S	ENST00000561311		1183	Cgt/Agt	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=1056&to=1255&var=R1183S	ENST00000306829		ENSG00000171914	15447		23	-1.87		HGNC	p.R1183S		TLN2		SNV							ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,63029265,C,A&fts=all		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Gene3D:1r0dB00,Superfamily_domains:SSF47220		R/S		A	neutral	3547/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1056&re=1255&var=R1183S	tolerated(0.89)					TLN2,missense_variant,p.Arg1183Ser,ENST00000561311,;TLN2,missense_variant,p.Arg1183Ser,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.Arg97Ser,ENST00000494733,;TLN2,non_coding_transcript_exon_variant,,ENST00000559908,;TLN2,upstream_gene_variant,,ENST00000489129,;							MODERATE	3547/7629	R1183S	TLN2_HUMAN			Transcript		benign(0)	.	ENSP00000303476		CCDS32261.1			1	
LHFPL7	0	LGGM	GRCh37	22	25334241	25334241	+	start_lost	Translation_Start_Site	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	33	3	.	.	ENST00000407886.1:c.2T>A	p.Met1?	p.M1?	ENST00000407886		1	aTg/aAg	0	1		UPI000173ABC1	0	NA	ENST00000423535		ENSG00000206069	33725		36	1.39		HGNC	p.M72K		TMEM211		SNV							ENST00000423535	protein_coding	getma.org/?cm=var&var=hg19,22,25334241,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12489,hmmpanther:PTHR12489:SF19,Pfam_domain:PF10242		M/K		T	low	215/695		getma.org/?cm=msa&ty=f&p=TM211_HUMAN&rb=2&re=173&var=M72K	deleterious(0)					TMEM211,start_lost,p.Met1?,ENST00000407886,;TMEM211,start_lost,p.Met1?,ENST00000382744,NM_001001663.1;TMEM211,missense_variant,p.Met72Lys,ENST00000423535,;							MODERATE	215/603	M72K	TM211_HUMAN			Transcript		benign(0.229)	.	ENSP00000387813					1	
PLEKHG1	0	LGGM	GRCh37	6	151152101	151152101	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	36	3	.	.	ENST00000367328.1:c.1854C>T	p.Cys618=	p.C618=	ENST00000367328	NM_001029884.1	618	tgC/tgT	0	1		UPI000015FC80	0		ENST00000358517		ENSG00000120278	20884		39			HGNC	p.C618C		PLEKHG1		SNV							ENST00000367328	protein_coding			hmmpanther:PTHR22826:SF90,hmmpanther:PTHR22826		C		T		2065/7136				Q5T1F3_HUMAN,Q5JYA6_HUMAN,Q5EBL9_HUMAN				PLEKHG1,synonymous_variant,p.=,ENST00000367328,NM_001029884.1;PLEKHG1,synonymous_variant,p.=,ENST00000358517,;PLEKHG1,intron_variant,,ENST00000475490,;PDCL3P5,downstream_gene_variant,,ENST00000398028,;							LOW	1854/4158		PKHG1_HUMAN			Transcript			.	ENSP00000351318		CCDS34552.1			1	
TDRD5	0	LGGM	GRCh37	1	179620199	179620199	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	44	3	.	.	ENST00000444136.1:c.1998T>A	p.Ser666=	p.S666=	ENST00000444136	NM_001199089.1	666	tcT/tcA	0	1		UPI00001C0E0A	0		ENST00000294848		ENSG00000162782	20614		47			HGNC	p.S122S		TDRD5		SNV							ENST00000417329	protein_coding			hmmpanther:PTHR22948		S		A		2248/3525								TDRD5,synonymous_variant,p.=,ENST00000444136,NM_001199089.1,NM_001199085.1;TDRD5,synonymous_variant,p.=,ENST00000367614,NM_001199091.1;TDRD5,synonymous_variant,p.=,ENST00000294848,NM_173533.3,NM_001199092.1;TDRD5,synonymous_variant,p.=,ENST00000417329,;							LOW	1998/2946		TDRD5_HUMAN			Transcript			.	ENSP00000294848		CCDS1332.1			1	
AMER3	0	LGGM	GRCh37	2	131520759	131520759	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	29	3	.	.	ENST00000423981.1:c.1114C>A	p.Pro372Thr	p.P372T	ENST00000423981	NM_001105194.1	372	Ccc/Acc	0	1		UPI0000D61239	0	NA	ENST00000321420		ENSG00000178171	26771		32	2.295		HGNC	p.P372T		AMER3		SNV							ENST00000423981	protein_coding	getma.org/?cm=var&var=hg19,2,131520759,C,A&fts=all		Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2		P/T		A	medium	1373/3273		getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=201&re=400&var=P372T	deleterious(0.03)	C9JS07_HUMAN,C9J4B8_HUMAN				AMER3,missense_variant,p.Pro372Thr,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Pro372Thr,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;							MODERATE	1114/2586	P372T	AMER3_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000314914		CCDS2164.1			1	
GALNTL5	0	LGGM	GRCh37	7	151664363	151664363	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	31	3	.	.	ENST00000392800.2:c.32A>T	p.Tyr11Phe	p.Y11F	ENST00000392800	NM_145292.3	11	tAt/tTt	0	1	1	UPI000013C82E	0	NA	ENST00000392800		ENSG00000106648	21725		34	1.7		HGNC	p.Y11F		GALNTL5		SNV							ENST00000416062	protein_coding	getma.org/?cm=var&var=hg19,7,151664363,A,T&fts=all		hmmpanther:PTHR11675:SF17,hmmpanther:PTHR11675,Transmembrane_helices:TMhelix		Y/F		T	low	286/1719		getma.org/?cm=msa&ty=f&p=GLTL5_HUMAN&rb=1&re=136&var=Y11F	tolerated(0.34)				YES	GALNTL5,missense_variant,p.Tyr11Phe,ENST00000392800,NM_145292.3;GALNTL5,missense_variant,p.Tyr11Phe,ENST00000431418,;GALNTL5,upstream_gene_variant,,ENST00000468278,;GALNTL5,missense_variant,p.Tyr11Phe,ENST00000416269,;GALNTL5,missense_variant,p.Tyr11Phe,ENST00000414073,;GALNTL5,missense_variant,p.Tyr11Phe,ENST00000426341,;GALNTL5,missense_variant,p.Tyr11Phe,ENST00000448366,;GALNTL5,missense_variant,p.Tyr11Phe,ENST00000416062,;							MODERATE	32/1332	Y11F	GLTL5_HUMAN			Transcript		possibly_damaging(0.65)	.	ENSP00000376548		CCDS5929.1			1	
POLA2	0	LGGM	GRCh37	11	65034967	65034967	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	42	3	.	.	ENST00000265465.3:c.224C>A	p.Ser75Ter	p.S75*	ENST00000265465	NM_002689.2	75	tCg/tAg	0	1	1	UPI000007375F	0	NA	ENST00000265465		ENSG00000014138	30073		45	0		HGNC	p.S75X		POLA2		SNV							ENST00000265465	protein_coding	getma.org/?cm=var&var=hg19,11,65034967,C,A&fts=all		Pfam_domain:PF08418,PIRSF_domain:PIRSF018300,hmmpanther:PTHR23061,hmmpanther:PTHR23061:SF12		S/*		A	NA	755/3744		NA		E9PIQ6_HUMAN,B3KSX6_HUMAN			YES	POLA2,stop_gained,p.Ser75Ter,ENST00000265465,NM_002689.2;POLA2,stop_gained,p.Ser35Ter,ENST00000532391,;POLA2,5_prime_UTR_variant,,ENST00000541089,;POLA2,synonymous_variant,p.=,ENST00000527850,;POLA2,non_coding_transcript_exon_variant,,ENST00000532469,;							HIGH	224/1797	S75*	DPOA2_HUMAN			Transcript			.	ENSP00000265465		CCDS8098.1			1	
NLRP2	0	LGGM	GRCh37	19	55501549	55501549	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	40	3	.	.	ENST00000543010.1:c.2526G>T	p.Leu842=	p.L842=	ENST00000543010	NM_001174081.1	842	ctG/ctT	0	1		UPI000004C0CC	0		ENST00000448584		ENSG00000022556	22948		43			HGNC	p.L820L		NLRP2		SNV							ENST00000537859	protein_coding			Superfamily_domains:SSF52047,SMART_domains:SM00368,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14		L		T		2668/3573				K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN				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,upstream_gene_variant,,ENST00000586512,;NLRP2,3_prime_UTR_variant,,ENST00000381637,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,intron_variant,,ENST00000543277,;NLRP2,upstream_gene_variant,,ENST00000542755,;							LOW	2526/3189		NALP2_HUMAN			Transcript			.	ENSP00000409370		CCDS12913.1			1	
TLR4	0	LGGM	GRCh37	9	120476461	120476461	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	30	3	.	.	ENST00000355622.6:c.2055G>C	p.Glu685Asp	p.E685D	ENST00000355622	NM_138557.2	685	gaG/gaC	0	1	1	UPI0000137057	0	getma.org/pdb.php?prot=TLR4_HUMAN&from=676&to=814&var=E685D	ENST00000355622		ENSG00000136869	11850		33	1.685		HGNC	p.E685D		TLR4		SNV			1				ENST00000355622	protein_coding	getma.org/?cm=var&var=hg19,9,120476461,G,C&fts=all		Gene3D:3.40.50.10140,Pfam_domain:PF01582,PIRSF_domain:PIRSF037595,PROSITE_profiles:PS50104,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF230,SMART_domains:SM00255,Superfamily_domains:SSF52200		E/D		C	low	2156/4844		getma.org/?cm=msa&ty=f&p=TLR4_HUMAN&rb=676&re=814&var=E685D	deleterious(0.04)	K9MSZ3_HUMAN,D0EWT7_HUMAN			YES	TLR4,missense_variant,p.Glu685Asp,ENST00000355622,NM_138557.2,NM_138554.4;TLR4,missense_variant,p.Glu645Asp,ENST00000394487,NM_003266.3;TLR4,non_coding_transcript_exon_variant,,ENST00000472304,;							MODERATE	2055/2520	E685D	TLR4_HUMAN			Transcript		possibly_damaging(0.533)	.	ENSP00000363089		CCDS6818.1			1	
CDC25A	0	LGGM	GRCh37	3	48224519	48224519	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	30	3	.	.	ENST00000302506.3:c.329A>T	p.Gln110Leu	p.Q110L	ENST00000302506	NM_001789.2	110	cAg/cTg	0	1	1	UPI000006ED4E	0	NA	ENST00000302506		ENSG00000164045	1725		33	1.435		HGNC	p.Q110L		CDC25A		SNV							ENST00000302506	protein_coding	getma.org/?cm=var&var=hg19,3,48224519,T,A&fts=all		Pfam_domain:PF06617,hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF19		Q/L		A	low	738/3783		getma.org/?cm=msa&ty=f&p=MPIP1_HUMAN&rb=86&re=329&var=Q110L	tolerated(0.37)	K7N7S0_HUMAN,C9JH94_HUMAN			YES	CDC25A,splice_acceptor_variant,,ENST00000443342,;CDC25A,missense_variant,p.Gln110Leu,ENST00000302506,NM_001789.2;CDC25A,missense_variant,p.Gln110Leu,ENST00000351231,NM_201567.1;CDC25A,missense_variant,p.Gln110Leu,ENST00000437972,;RNU7-128P,downstream_gene_variant,,ENST00000517247,;NDUFB1P1,downstream_gene_variant,,ENST00000435191,;							MODERATE	329/1575	Q110L	MPIP1_HUMAN			Transcript		benign(0.11)	.	ENSP00000303706		CCDS2760.1			1	
RXFP3	0	LGGM	GRCh37	5	33936973	33936973	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	21	3	.	.	ENST00000330120.3:c.128T>A	p.Leu43Gln	p.L43Q	ENST00000330120	NM_016568.3	43	cTg/cAg	0	1	1	UPI0000046AEB	0	NA	ENST00000330120		ENSG00000182631	24883		24	0.695		HGNC	p.L43Q		RXFP3		SNV							ENST00000330120	protein_coding	getma.org/?cm=var&var=hg19,5,33936973,T,A&fts=all				L/Q		A	neutral	483/2533		getma.org/?cm=msa&ty=f&p=RL3R1_HUMAN&rb=1&re=97&var=L43Q	tolerated(0.11)				YES	RXFP3,missense_variant,p.Leu43Gln,ENST00000330120,NM_016568.3;							MODERATE	128/1410	L43Q	RL3R1_HUMAN			Transcript		benign(0.106)	.	ENSP00000328708		CCDS3900.1			1	
LRRC8A	0	LGGM	GRCh37	9	131670073	131670073	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	15	3	.	.	ENST00000259324.5:c.630C>A	p.Pro210=	p.P210=	ENST00000259324	NM_001127244.1	210	ccC/ccA	0	1	1	UPI000004EF9E	0		ENST00000259324		ENSG00000136802	19027		18			HGNC	p.P210P		LRRC8A		SNV			1				ENST00000372600	protein_coding			hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF39		P		A		1153/4619				Q96SW8_HUMAN			YES	LRRC8A,synonymous_variant,p.=,ENST00000259324,NM_001127244.1;LRRC8A,synonymous_variant,p.=,ENST00000372600,NM_019594.3;LRRC8A,synonymous_variant,p.=,ENST00000372599,NM_001127245.1;LRRC8A,upstream_gene_variant,,ENST00000492784,;							LOW	630/2433		LRC8A_HUMAN			Transcript			.	ENSP00000259324		CCDS35155.1			1	
MROH6	0	LGGM	GRCh37	8	144654321	144654321	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	21	3	.	.	ENST00000398882.3:c.329C>T	p.Ala110Val	p.A110V	ENST00000398882	NM_001100878.1	110	gCc/gTc	0	1	1	UPI0000DD7EFB	0	NA	ENST00000398882		ENSG00000204839	27814		24	0.345		HGNC	p.A110V		MROH6		SNV							ENST00000529971	protein_coding	getma.org/?cm=var&var=hg19,8,144654321,G,A&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF7		A/V		A	neutral	586/3469		getma.org/?cm=msa&ty=f&p=CH073_HUMAN&rb=1&re=718&var=A110V	deleterious(0.01)	E9PJR4_HUMAN			YES	MROH6,missense_variant,p.Ala110Val,ENST00000398882,NM_001100878.1;MROH6,missense_variant,p.Ala110Val,ENST00000529971,;NAPRT1,downstream_gene_variant,,ENST00000449291,;MROH6,upstream_gene_variant,,ENST00000533679,;NAPRT1,downstream_gene_variant,,ENST00000435154,;MROH6,upstream_gene_variant,,ENST00000524906,;MROH6,upstream_gene_variant,,ENST00000534459,;NAPRT1,downstream_gene_variant,,ENST00000340490,;NAPRT1,downstream_gene_variant,,ENST00000276844,;NAPRT1,downstream_gene_variant,,ENST00000426292,NM_145201.4,NM_001286829.1;MROH6,upstream_gene_variant,,ENST00000532862,;RP11-661A12.9,upstream_gene_variant,,ENST00000531730,;NAPRT1,downstream_gene_variant,,ENST00000460623,;MROH6,upstream_gene_variant,,ENST00000532704,;MROH6,upstream_gene_variant,,ENST00000533582,;MROH6,upstream_gene_variant,,ENST00000533210,;NAPRT1,downstream_gene_variant,,ENST00000464332,;NAPRT1,downstream_gene_variant,,ENST00000480946,;NAPRT1,downstream_gene_variant,,ENST00000525583,;NAPRT1,downstream_gene_variant,,ENST00000488096,;NAPRT1,downstream_gene_variant,,ENST00000532645,;MROH6,upstream_gene_variant,,ENST00000533083,;NAPRT1,downstream_gene_variant,,ENST00000491904,;NAPRT1,downstream_gene_variant,,ENST00000529179,;NAPRT1,downstream_gene_variant,,ENST00000498076,;							MODERATE	329/2160	A110V	MROH6_HUMAN			Transcript		possibly_damaging(0.53)	.	ENSP00000381857		CCDS47928.1			1	
UBR3	0	LGGM	GRCh37	2	170761678	170761678	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	24	3	.	.	ENST00000418381.1:c.1520A>G	p.Asn507Ser	p.N507S	ENST00000418381	NM_172070.3	507	aAt/aGt	0	1		UPI00015FA088	0	NA	ENST00000272793		ENSG00000144357	30467		27	0.345		HGNC	p.N507S		UBR3		SNV							ENST00000418381	protein_coding	getma.org/?cm=var&var=hg19,2,170761678,A,G&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25		N/S		G	neutral	1570/8005		getma.org/?cm=msa&ty=f&p=UBR3_HUMAN&rb=389&re=588&var=N507S	tolerated(0.06)	Q68DC1_HUMAN				UBR3,missense_variant,p.Asn507Ser,ENST00000272793,;UBR3,missense_variant,p.Asn507Ser,ENST00000418381,NM_172070.3;							MODERATE	1520/5667	N507S	UBR3_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000272793					1	
DNMT3A	0	LGGM	GRCh37	2	25458596	25458596	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	44	3	.	.	ENST00000264709.3:c.2577A>G	p.Leu859=	p.L859=	ENST00000264709	NM_175629.2	859	ttA/ttG	0	1	1	UPI000000DA70	0		ENST00000264709		ENSG00000119772	2978		47			HGNC	p.L859L		DNMT3A		SNV			1				ENST00000264709	protein_coding			PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Superfamily_domains:SSF53335		L		C		2915/4380				Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,synonymous_variant,p.=,ENST00000264709,NM_175629.2;DNMT3A,synonymous_variant,p.=,ENST00000321117,NM_022552.4;DNMT3A,synonymous_variant,p.=,ENST00000380746,NM_153759.3;DNMT3A,synonymous_variant,p.=,ENST00000402667,;DNMT3A,non_coding_transcript_exon_variant,,ENST00000474887,;DNMT3A,downstream_gene_variant,,ENST00000461228,;DNMT3A,downstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000491288,;DNMT3A,3_prime_UTR_variant,,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000466601,;							LOW	2577/2739		DNM3A_HUMAN			Transcript			.	ENSP00000264709		CCDS33157.1			1	
ADRA1B	0	LGGM	GRCh37	5	159344414	159344414	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	46	3	.	.	ENST00000306675.3:c.502A>T	p.Ser168Cys	p.S168C	ENST00000306675	NM_000679.3	168	Agt/Tgt	0	1	1	UPI000003B079	0	getma.org/pdb.php?prot=ADA1B_HUMAN&from=62&to=348&var=S168C	ENST00000306675		ENSG00000170214	278		49	-0.28		HGNC	p.S168C		ADRA1B		SNV							ENST00000306675	protein_coding	getma.org/?cm=var&var=hg19,5,159344414,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF17,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		S/C		T	neutral	625/1738		getma.org/?cm=msa&ty=f&p=ADA1B_HUMAN&rb=62&re=348&var=S168C	tolerated(0.15)				YES	ADRA1B,missense_variant,p.Ser168Cys,ENST00000306675,NM_000679.3;							MODERATE	502/1563	S168C	ADA1B_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000306662		CCDS4347.1			1	
METAP1D	0	LGGM	GRCh37	2	172943987	172943987	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	27	3	.	.	ENST00000315796.4:c.847A>G	p.Ile283Val	p.I283V	ENST00000315796	NM_199227.1	283	Ata/Gta	0	1	1	UPI00001AF10C	0	getma.org/pdb.php?prot=AMP1D_HUMAN&from=95&to=322&var=I283V	ENST00000315796		ENSG00000172878	32583	0.000173	30	2.09		HGNC	p.I283V	rs763695093	METAP1D		SNV							ENST00000315796	protein_coding	getma.org/?cm=var&var=hg19,2,172943987,A,G&fts=all		HAMAP:MF_01974,hmmpanther:PTHR10804:SF82,hmmpanther:PTHR10804,TIGRFAM_domain:TIGR00500,Pfam_domain:PF00557,Gene3D:3.90.230.10,Superfamily_domains:SSF55920,Prints_domain:PR00599		I/V		G	medium	1234/3419		getma.org/?cm=msa&ty=f&p=AMP1D_HUMAN&rb=95&re=322&var=I283V	tolerated(0.06)				YES	METAP1D,missense_variant,p.Ile283Val,ENST00000315796,NM_199227.1;METAP1D,non_coding_transcript_exon_variant,,ENST00000488581,;METAP1D,non_coding_transcript_exon_variant,,ENST00000468537,;							MODERATE	847/1008	I283V	MAP12_HUMAN			Transcript		benign(0.077)	.	ENSP00000315152	1.65E-05	CCDS2246.1			1	
STAR	0	LGGM	GRCh37	8	38006259	38006259	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	34	3	.	.	ENST00000276449.4:c.78G>T	p.Gln26His	p.Q26H	ENST00000276449	NM_000349.2	26	caG/caT	0	1	1	UPI000013DAC9	0	NA	ENST00000276449		ENSG00000147465	11359		37	2.045		HGNC	p.Q26H		STAR		SNV			1				ENST00000276449	protein_coding	getma.org/?cm=var&var=hg19,8,38006259,C,A&fts=all		hmmpanther:PTHR12136:SF9,hmmpanther:PTHR12136,Prints_domain:PR00978		Q/H		A	medium	525/1929		getma.org/?cm=msa&ty=f&p=STAR_HUMAN&rb=1&re=75&var=Q26H	deleterious(0.04)	Q6QNJ9_HUMAN,Q6IBK0_HUMAN,E5RH12_HUMAN			YES	STAR,missense_variant,p.Gln26His,ENST00000276449,NM_000349.2;STAR,missense_variant,p.Gln5His,ENST00000522050,;STAR,5_prime_UTR_variant,,ENST00000521236,;RP11-90P5.2,non_coding_transcript_exon_variant,,ENST00000520598,;STAR,non_coding_transcript_exon_variant,,ENST00000520114,;ASH2L,downstream_gene_variant,,ENST00000521808,;							MODERATE	78/858	Q26H	STAR_HUMAN			Transcript		possibly_damaging(0.497)	.	ENSP00000276449		CCDS6102.1			1	
MDN1	0	LGGM	GRCh37	6	90459070	90459070	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	40	3	.	.	ENST00000369393.3:c.3634A>T	p.Arg1212Trp	p.R1212W	ENST00000369393		1212	Agg/Tgg	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		43	4.255		HGNC	p.R1212W		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90459070,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF07728,PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		R/W		A	high	3750/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=1079&re=1215&var=R1212W		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Arg1212Trp,ENST00000369393,;MDN1,missense_variant,p.Arg1212Trp,ENST00000428876,NM_014611.1;MDN1,missense_variant,p.Arg1139Trp,ENST00000439638,;							MODERATE	3634/16791	R1212W	MDN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358400		CCDS5024.1			1	
BMP2K	0	LGGM	GRCh37	4	79780791	79780791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	15	3	.	.	ENST00000335016.5:c.937T>C	p.Tyr313His	p.Y313H	ENST00000335016	NM_198892.1	313	Tat/Cat	0	1	1	UPI00001BDC7C	0	getma.org/pdb.php?prot=BMP2K_HUMAN&from=51&to=316&var=Y313H	ENST00000335016		ENSG00000138756	18041		18	1.07		HGNC	p.Y313H		BMP2K		SNV							ENST00000502871	protein_coding	getma.org/?cm=var&var=hg19,4,79780791,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22967:SF10,hmmpanther:PTHR22967,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/H		C	low	1103/3804		getma.org/?cm=msa&ty=f&p=BMP2K_HUMAN&rb=51&re=316&var=Y313H	tolerated(0.14)				YES	BMP2K,missense_variant,p.Tyr6His,ENST00000502613,;BMP2K,missense_variant,p.Tyr313His,ENST00000335016,NM_198892.1;BMP2K,missense_variant,p.Tyr313His,ENST00000502871,NM_017593.3;BMP2K,missense_variant,p.Tyr313His,ENST00000389010,;BMP2K,non_coding_transcript_exon_variant,,ENST00000515075,;BMP2K,non_coding_transcript_exon_variant,,ENST00000505725,;							MODERATE	937/3486	Y313H	BMP2K_HUMAN			Transcript		benign(0.162)	.	ENSP00000334836		CCDS47083.1			1	
DNAH6	0	LGGM	GRCh37	2	84777138	84777138	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	26	3	.	.	ENST00000389394.3:c.1442A>T	p.Gln481Leu	p.Q481L	ENST00000389394	NM_001370.1	481	cAg/cTg	0	1		UPI000163AC9D	0	NA	ENST00000237449		ENSG00000115423	2951		29	1.245		HGNC	p.Q481L		DNAH6		SNV							ENST00000389394	protein_coding	getma.org/?cm=var&var=hg19,2,84777138,A,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136		Q/L		T	low	1450/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=401&re=600&var=Q481L	tolerated(0.11)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Gln481Leu,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Gln481Leu,ENST00000237449,;DNAH6,missense_variant,p.Gln481Leu,ENST00000398278,;DNAH6,non_coding_transcript_exon_variant,,ENST00000476689,;DNAH6,non_coding_transcript_exon_variant,,ENST00000494025,;							MODERATE	1442/12477	Q481L	DYH6_HUMAN			Transcript		benign(0.001)	.	ENSP00000237449		CCDS46348.1			1	
NFX1	0	LGGM	GRCh37	9	33364755	33364755	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	25	3	.	.	ENST00000379540.3:c.3022G>T	p.Val1008Leu	p.V1008L	ENST00000379540	NM_002504.4	1008	Gtg/Ttg	0	1	1	UPI0000072140	0	NA	ENST00000379540		ENSG00000086102	7803		28	2.14		HGNC	p.V1008L	rs767614678	NFX1		SNV							ENST00000379521	protein_coding	getma.org/?cm=var&var=hg19,9,33364755,G,T&fts=all		PROSITE_profiles:PS51061,hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0,Pfam_domain:PF01424,SMART_domains:SM00393,Superfamily_domains:SSF82708		V/L		T	medium	3084/4604	1.56E-05	getma.org/?cm=msa&ty=f&p=NFX1_HUMAN&rb=1005&re=1061&var=V1008L	deleterious(0)				YES	NFX1,missense_variant,p.Val1008Leu,ENST00000379540,NM_002504.4;NFX1,missense_variant,p.Val1008Leu,ENST00000379521,NM_147133.2;NFX1,upstream_gene_variant,,ENST00000463421,;							MODERATE	3022/3363	V1008L	NFX1_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000368856	8.24E-06	CCDS6538.1			1	
SPOCD1	0	LGGM	GRCh37	1	32256626	32256626	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	26	3	.	.	ENST00000360482.2:c.3229A>T	p.Ser1077Cys	p.S1077C	ENST00000360482	NM_144569.4	1077	Agt/Tgt	0	1	1	UPI000035E7DD	0	NA	ENST00000360482		ENSG00000134668	26338		29	0.805		HGNC	p.S1077C		SPOCD1		SNV							ENST00000360482	protein_coding	getma.org/?cm=var&var=hg19,1,32256626,T,A&fts=all		hmmpanther:PTHR14914:SF5,hmmpanther:PTHR14914		S/C		A	low	3359/3960		getma.org/?cm=msa&ty=f&p=SPOC1_HUMAN&rb=1054&re=1129&var=S1077C	deleterious(0)	E9PMX0_HUMAN,E9PKC3_HUMAN			YES	SPOCD1,missense_variant,p.Ser1077Cys,ENST00000360482,NM_144569.4;SPOCD1,missense_variant,p.Ser1064Cys,ENST00000533231,NM_001281987.1;SPOCD1,missense_variant,p.Ser557Cys,ENST00000257100,NM_001281988.1;SPOCD1,missense_variant,p.Ser500Cys,ENST00000452755,;SPOCD1,3_prime_UTR_variant,,ENST00000373648,;SPOCD1,downstream_gene_variant,,ENST00000528579,;RP11-84A19.3,intron_variant,,ENST00000527035,;SPOCD1,non_coding_transcript_exon_variant,,ENST00000473361,;SPOCD1,downstream_gene_variant,,ENST00000485944,;SPOCD1,downstream_gene_variant,,ENST00000468720,;SPOCD1,downstream_gene_variant,,ENST00000460061,;SPOCD1,downstream_gene_variant,,ENST00000531039,;SPOCD1,downstream_gene_variant,,ENST00000532604,;							MODERATE	3229/3651	S1077C	SPOC1_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000353670		CCDS347.1			1	
C1orf105	0	LGGM	GRCh37	1	172431369	172431369	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	23	3	.	.	ENST00000367727.4:c.325A>T	p.Asn109Tyr	p.N109Y	ENST00000367727	NM_139240.3	109	Aat/Tat	0	1	1	UPI000006D456	0	NA	ENST00000367727		ENSG00000180999	29591		26	0.805		HGNC	p.N80Y		C1orf105		SNV							ENST00000488100	protein_coding	getma.org/?cm=var&var=hg19,1,172431369,A,T&fts=all		Pfam_domain:PF15081		N/Y		T	low	523/985		getma.org/?cm=msa&ty=f&p=CA105_HUMAN&rb=1&re=181&var=N109Y	deleterious(0)				YES	C1orf105,missense_variant,p.Asn109Tyr,ENST00000367727,NM_139240.3;C1orf105,missense_variant,p.Asn99Tyr,ENST00000367725,;C1orf105,missense_variant,p.Asn80Tyr,ENST00000488100,;C1orf105,non_coding_transcript_exon_variant,,ENST00000367726,;							MODERATE	325/552	N109Y	CA105_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000356700		CCDS1301.1			1	
CASC1	0	LGGM	GRCh37	12	25264853	25264853	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	14	3	.	.	ENST00000395987.3:c.1632T>A	p.Ser544=	p.S544=	ENST00000395987	NM_018272.3	544	tcT/tcA	0	1		UPI00001FB79F	0		ENST00000320267		ENSG00000118307	29599		17			HGNC	p.S426S		CASC1		SNV							ENST00000537577	protein_coding			hmmpanther:PTHR20929		S		T		1696/2361				G3V3G6_HUMAN,B4DY27_HUMAN				CASC1,synonymous_variant,p.=,ENST00000354189,NM_001082972.1;CASC1,synonymous_variant,p.=,ENST00000395990,NM_001204102.1;CASC1,synonymous_variant,p.=,ENST00000395987,NM_018272.3;CASC1,synonymous_variant,p.=,ENST00000320267,NM_001082973.1;CASC1,synonymous_variant,p.=,ENST00000537577,;CASC1,synonymous_variant,p.=,ENST00000545133,NM_001204101.1;CASC1,synonymous_variant,p.=,ENST00000556006,;LRMP,downstream_gene_variant,,ENST00000354454,NM_006152.3;LRMP,downstream_gene_variant,,ENST00000547044,NM_001204126.1;LRMP,downstream_gene_variant,,ENST00000548766,NM_001204127.1;LRMP,downstream_gene_variant,,ENST00000536173,;CASC1,non_coding_transcript_exon_variant,,ENST00000555554,;CASC1,downstream_gene_variant,,ENST00000557684,;CASC1,3_prime_UTR_variant,,ENST00000554533,;LRMP,downstream_gene_variant,,ENST00000361433,;LRMP,downstream_gene_variant,,ENST00000549437,;LRMP,downstream_gene_variant,,ENST00000555877,;LRMP,downstream_gene_variant,,ENST00000555194,;							LOW	1614/2151		CASC1_HUMAN			Transcript			.	ENSP00000313141		CCDS41762.1			1	
RAMP3	0	LGGM	GRCh37	7	45217026	45217026	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	26	3	.	.	ENST00000242249.4:c.177G>A	p.Leu59=	p.L59=	ENST00000242249	NM_005856.2	59	ctG/ctA	0	1	1	UPI0000134303	0		ENST00000242249		ENSG00000122679	9845		29			HGNC	p.L59L		RAMP3		SNV							ENST00000242249	protein_coding			Pfam_domain:PF04901,hmmpanther:PTHR14076,hmmpanther:PTHR14076:SF2		L		A		215/1323				M5AMS3_HUMAN,A4D2L1_HUMAN			YES	RAMP3,synonymous_variant,p.=,ENST00000242249,NM_005856.2;RAMP3,synonymous_variant,p.=,ENST00000481345,;RAMP3,synonymous_variant,p.=,ENST00000496212,;							LOW	177/447		RAMP3_HUMAN			Transcript			.	ENSP00000242249		CCDS5503.1			1	
SLC8A1	0	LGGM	GRCh37	2	40655688	40655688	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	34	3	.	.	ENST00000403092.1:c.1733A>C	p.Glu578Ala	p.E578A	ENST00000403092		578	gAa/gCa	0	1		UPI000012FC46	0	getma.org/pdb.php?prot=NAC1_HUMAN&from=527&to=627&var=E578A	ENST00000332839		ENSG00000183023	11068		37	1.61		HGNC	p.E578A		SLC8A1		SNV							ENST00000402441	protein_coding	getma.org/?cm=var&var=hg19,2,40655688,T,G&fts=all		Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF6,SMART_domains:SM00237,Superfamily_domains:SSF141072,TIGRFAM_domain:TIGR00845		E/A		G	low	1733/2922		getma.org/?cm=msa&ty=f&p=NAC1_HUMAN&rb=527&re=627&var=E578A	tolerated(0.05)	Q6LAJ9_HUMAN,Q6LAJ8_HUMAN,Q4QQH3_HUMAN,E9PCL8_HUMAN,E9PB98_HUMAN				SLC8A1,missense_variant,p.Glu578Ala,ENST00000406785,;SLC8A1,missense_variant,p.Glu578Ala,ENST00000542756,;SLC8A1,missense_variant,p.Glu578Ala,ENST00000403092,;SLC8A1,missense_variant,p.Glu578Ala,ENST00000405901,NM_001112800.1;SLC8A1,missense_variant,p.Glu578Ala,ENST00000402441,NM_001112802.1;SLC8A1,missense_variant,p.Glu578Ala,ENST00000405269,;SLC8A1,missense_variant,p.Glu578Ala,ENST00000332839,NM_021097.2;SLC8A1,missense_variant,p.Glu578Ala,ENST00000408028,NM_001252624.1;SLC8A1,missense_variant,p.Glu578Ala,ENST00000406391,;SLC8A1,missense_variant,p.Glu578Ala,ENST00000542024,;SLC8A1,downstream_gene_variant,,ENST00000417271,;SLC8A1,downstream_gene_variant,,ENST00000455476,;SLC8A1,downstream_gene_variant,,ENST00000448531,;SLC8A1,missense_variant,p.Glu575Ala,ENST00000407929,;							MODERATE	1733/2922	E578A	NAC1_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000332931		CCDS1806.1			1	
AP4E1	0	LGGM	GRCh37	15	51204283	51204283	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	30	3	.	.	ENST00000261842.5:c.159A>T	p.Glu53Asp	p.E53D	ENST00000261842	NM_001252127.1	53	gaA/gaT	0	1	1	UPI00001D89D8	0	getma.org/pdb.php?prot=AP4E1_HUMAN&from=52&to=601&var=E53D	ENST00000261842		ENSG00000081014	573		33	0.495		HGNC	p.E53D		AP4E1		SNV			1				ENST00000561441	protein_coding	getma.org/?cm=var&var=hg19,15,51204283,A,T&fts=all		hmmpanther:PTHR22780:SF13,hmmpanther:PTHR22780,Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037097,Superfamily_domains:SSF48371		E/D		T	neutral	265/6758		getma.org/?cm=msa&ty=f&p=AP4E1_HUMAN&rb=52&re=601&var=E53D	tolerated(0.54)				YES	AP4E1,missense_variant,p.Glu53Asp,ENST00000261842,NM_001252127.1,NM_007347.4;AP4E1,5_prime_UTR_variant,,ENST00000560508,;AP4E1,upstream_gene_variant,,ENST00000561004,;AP4E1,missense_variant,p.Glu53Asp,ENST00000558439,;AP4E1,missense_variant,p.Glu53Asp,ENST00000561441,;AP4E1,5_prime_UTR_variant,,ENST00000561393,;							MODERATE	159/3414	E53D	AP4E1_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000261842		CCDS32240.1			1	
ANK3	0	LGGM	GRCh37	10	61946602	61946602	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	50	4	.	.	ENST00000280772.2:c.1956A>G	p.Glu652=	p.E652=	ENST00000280772	NM_020987.3	652	gaA/gaG	0	1	1	UPI0000141BA9	0		ENST00000280772		ENSG00000151150	494		54			HGNC	p.E646E		ANK3		SNV			1				ENST00000373827	protein_coding			Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,SMART_domains:SM00248,Superfamily_domains:SSF48403		E		C		2148/16874				D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,synonymous_variant,p.=,ENST00000280772,NM_020987.3;ANK3,synonymous_variant,p.=,ENST00000373827,NM_001204403.1;ANK3,synonymous_variant,p.=,ENST00000503366,NM_001204404.1;							LOW	1956/13134		ANK3_HUMAN			Transcript			.	ENSP00000280772		CCDS7258.1			1	
SEMA3A	0	LGGM	GRCh37	7	83758456	83758456	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	23	4	.	.	ENST00000265362.4:c.316G>C	p.Ala106Pro	p.A106P	ENST00000265362	NM_006080.2	106	Gct/Cct	0	1	1	UPI0000135A60	0	getma.org/pdb.php?prot=SEM3A_HUMAN&from=57&to=498&var=A106P	ENST00000265362		ENSG00000075213	10723		27	2.58		HGNC	p.A106P		SEMA3A		SNV			1				ENST00000420047	protein_coding	getma.org/?cm=var&var=hg19,7,83758456,C,G&fts=all		PROSITE_profiles:PS51004,hmmpanther:PTHR11036:SF23,hmmpanther:PTHR11036,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		A/P		G	medium	631/8225		getma.org/?cm=msa&ty=f&p=SEM3A_HUMAN&rb=57&re=498&var=A106P	deleterious(0.01)	Q86UJ2_HUMAN,Q75MQ2_HUMAN,C9JD25_HUMAN,C9J9C4_HUMAN			YES	SEMA3A,missense_variant,p.Ala106Pro,ENST00000265362,NM_006080.2;SEMA3A,missense_variant,p.Ala106Pro,ENST00000436949,;SEMA3A,missense_variant,p.Ala106Pro,ENST00000420047,;							MODERATE	316/2316	A106P	SEM3A_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000265362		CCDS5599.1			1	
OR6C2	0	LGGM	GRCh37	12	55846816	55846816	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	42	4	.	.	ENST00000322678.1:c.819A>T	p.Ser273=	p.S273=	ENST00000322678	NM_054105.1	273	tcA/tcT	0	1	1	UPI0000140EC9	0		ENST00000322678		ENSG00000179695	15436		46			HGNC	p.S273S		OR6C2		SNV							ENST00000322678	protein_coding			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		S		T		819/939							YES	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,;							LOW	819/939		OR6C2_HUMAN			Transcript			.	ENSP00000323606		CCDS31824.1			1	
ANKAR	0	LGGM	GRCh37	2	190595309	190595309	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	9	4	.	.	ENST00000520309.1:c.3282C>A	p.His1094Gln	p.H1094Q	ENST00000520309	NM_144708.3	1094	caC/caA	0	1		UPI00001D7E11	0	NA	ENST00000313581		ENSG00000151687	26350		13	1.1		HGNC	p.H1023Q		ANKAR		SNV							ENST00000431575	protein_coding	getma.org/?cm=var&var=hg19,2,190595309,C,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62,SMART_domains:SM00185,Superfamily_domains:SSF48371		H/Q		A	low	3346/4391		getma.org/?cm=msa&ty=f&p=ANKAR_HUMAN&rb=972&re=1117&var=H1094Q	tolerated(0.37)	J3KQB7_HUMAN				ANKAR,missense_variant,p.His1094Gln,ENST00000520309,NM_144708.3;ANKAR,missense_variant,p.His1094Gln,ENST00000313581,;ANKAR,missense_variant,p.His1023Gln,ENST00000431575,;ANKAR,intron_variant,,ENST00000438402,;ANKAR,intron_variant,,ENST00000281412,;ANKAR,intron_variant,,ENST00000474303,;ANKAR,intron_variant,,ENST00000433782,;ANKAR,intron_variant,,ENST00000441800,;							MODERATE	3282/4305	H1094Q	ANKAR_HUMAN			Transcript		benign(0.027)	.	ENSP00000313513		CCDS33351.2			1	
MYCBP2	0	LGGM	GRCh37	13	77655685	77655685	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	62	4	.	.	ENST00000544440.2:c.11181A>T	p.Thr3727=	p.T3727=	ENST00000544440		3727	acA/acT	0	1		UPI0000212757	0		ENST00000357337		ENSG00000005810	23386		66			HGNC	p.T3765T		MYCBP2		SNV							ENST00000407578	protein_coding			Gene3D:2.60.120.260,PROSITE_profiles:PS51284,hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14,Superfamily_domains:SSF49785		T		A		11274/14736								MYCBP2,synonymous_variant,p.=,ENST00000407578,NM_015057.4;MYCBP2,synonymous_variant,p.=,ENST00000357337,;MYCBP2,synonymous_variant,p.=,ENST00000544440,;MYCBP2,synonymous_variant,p.=,ENST00000429715,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2-AS1,intron_variant,,ENST00000422231,;MYCBP2-AS1,intron_variant,,ENST00000450627,;MYCBP2-AS1,intron_variant,,ENST00000448470,;MYCBP2-AS1,downstream_gene_variant,,ENST00000596342,;MYCBP2-AS2,upstream_gene_variant,,ENST00000428716,;							LOW	11181/13923		MYCB2_HUMAN			Transcript			.	ENSP00000349892					1	
RSL1D1	0	LGGM	GRCh37	16	11941599	11941599	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	31	4	.	.	ENST00000571133.1:c.310A>T	p.Asn104Tyr	p.N104Y	ENST00000571133	NM_015659.2	104	Aat/Tat	0	1	1	UPI000007374D	0	NA	ENST00000571133		ENSG00000171490	24534		35	2.455		HGNC	p.N38Y		RSL1D1		SNV							ENST00000573791	protein_coding	getma.org/?cm=var&var=hg19,16,11941599,T,A&fts=all		hmmpanther:PTHR23105,hmmpanther:PTHR23105:SF5,Pfam_domain:PF00687,Superfamily_domains:SSF56808		N/Y		A	medium	383/4134		getma.org/?cm=msa&ty=f&p=RL1D1_HUMAN&rb=40&re=260&var=N104Y	deleterious(0)	I3L234_HUMAN,B4DJ58_HUMAN			YES	RSL1D1,missense_variant,p.Asn104Tyr,ENST00000571133,NM_015659.2;RSL1D1,missense_variant,p.Asn104Tyr,ENST00000355674,;RSL1D1,missense_variant,p.Asn104Tyr,ENST00000573251,;RSL1D1,missense_variant,p.Asn38Tyr,ENST00000573791,;RSL1D1,missense_variant,p.Asn70Tyr,ENST00000571988,;RSL1D1,5_prime_UTR_variant,,ENST00000542106,;RP11-166B2.8,upstream_gene_variant,,ENST00000574364,;RSL1D1,3_prime_UTR_variant,,ENST00000396503,;RSL1D1,3_prime_UTR_variant,,ENST00000570767,;RSL1D1,3_prime_UTR_variant,,ENST00000572090,;RSL1D1,non_coding_transcript_exon_variant,,ENST00000574287,;RSL1D1,intron_variant,,ENST00000573029,;RSL1D1,intron_variant,,ENST00000573618,;RSL1D1,upstream_gene_variant,,ENST00000574823,;							MODERATE	310/1473	N104Y	RL1D1_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000460871		CCDS10551.1			1	
RGS6	0	LGGM	GRCh37	14	73006965	73006965	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	40	4	.	.	ENST00000553525.1:c.1422+163A>T		*474*	ENST00000553525	NM_001204424.1			0	1		UPI00001698D1	0		ENST00000553530		ENSG00000182732	10002		44			HGNC	p.Q477L		RGS6		SNV							ENST00000404301	protein_coding							T		-/3105				Q2M3K2_HUMAN,B7Z2N1_HUMAN				RGS6,splice_acceptor_variant,,ENST00000407322,;RGS6,missense_variant,p.Gln477Leu,ENST00000404301,;RGS6,intron_variant,,ENST00000553530,NM_004296.5,NM_001204422.1,NM_001204421.1,NM_001204418.1,NM_001204417.1,NM_001204420.1;RGS6,intron_variant,,ENST00000553525,NM_001204424.1;RGS6,intron_variant,,ENST00000434263,;RGS6,intron_variant,,ENST00000555571,;RGS6,intron_variant,,ENST00000556437,NM_001204416.1;RGS6,intron_variant,,ENST00000406236,;RGS6,intron_variant,,ENST00000402788,NM_001204423.1;RGS6,intron_variant,,ENST00000343854,NM_001204419.1;RGS6,intron_variant,,ENST00000554782,;RGS6,downstream_gene_variant,,ENST00000355512,;RGS6,intron_variant,,ENST00000554300,;RGS6,intron_variant,,ENST00000554474,;							MODIFIER	-/1419		RGS6_HUMAN			Transcript			.	ENSP00000452331		CCDS9808.1			1	
DPY19L3	0	LGGM	GRCh37	19	32954355	32954355	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	46	4	.	.	ENST00000342179.5:c.1406A>G	p.His469Arg	p.H469R	ENST00000342179	NM_207325.2	469	cAt/cGt	0	1	1	UPI00001C10BE	0	NA	ENST00000342179		ENSG00000178904	27120		50	2.295		HGNC	p.H469R		DPY19L3		SNV							ENST00000392250	protein_coding	getma.org/?cm=var&var=hg19,19,32954355,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR31488,hmmpanther:PTHR31488:SF4,Pfam_domain:PF10034		H/R		G	medium	1621/6015		getma.org/?cm=msa&ty=f&p=D19L3_HUMAN&rb=54&re=712&var=H469R	deleterious(0.01)	K7ELG1_HUMAN			YES	DPY19L3,missense_variant,p.His469Arg,ENST00000342179,NM_207325.2;DPY19L3,missense_variant,p.His469Arg,ENST00000392250,NM_001172774.1;DPY19L3,missense_variant,p.His469Arg,ENST00000586987,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000590651,;DPY19L3,missense_variant,p.His236Arg,ENST00000588648,;DPY19L3,missense_variant,p.His64Arg,ENST00000592832,;DPY19L3,non_coding_transcript_exon_variant,,ENST00000592142,;DPY19L3,downstream_gene_variant,,ENST00000585597,;							MODERATE	1406/2151	H469R	D19L3_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000344937		CCDS12422.1			1	
PKD1L1	0	LGGM	GRCh37	7	47880106	47880106	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	28	4	.	.	ENST00000289672.2:c.5505A>T	p.Pro1835=	p.P1835=	ENST00000289672	NM_138295.3	1835	ccA/ccT	0	1	1	UPI0000130FA9	0		ENST00000289672		ENSG00000158683	18053		32			HGNC	p.P1835P		PKD1L1		SNV							ENST00000289672	protein_coding			Gene3D:2.60.60.20,Pfam_domain:PF01477,PROSITE_profiles:PS50095,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32,SMART_domains:SM00308,Superfamily_domains:SSF49723		P		A		5556/9092							YES	PKD1L1,synonymous_variant,p.=,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;							LOW	5505/8550		PK1L1_HUMAN			Transcript			.	ENSP00000289672		CCDS34633.1			1	
PI4KA	0	LGGM	GRCh37	22	21098975	21098975	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	30	4	.	.	ENST00000255882.6:c.3397A>T	p.Lys1133Ter	p.K1133*	ENST00000255882	NM_058004.3	1133	Aag/Tag	0	1	1	UPI0000E06BD6	0	NA	ENST00000255882		ENSG00000241973	8983		34	0		HGNC	p.K1133X		PI4KA		SNV							ENST00000255882	protein_coding	getma.org/?cm=var&var=hg19,22,21098975,T,A&fts=all		hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF15		K/*		A	NA	3484/6752		NA		Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN			YES	PI4KA,stop_gained,p.Lys1133Ter,ENST00000255882,NM_058004.3;PI4KA,stop_gained,p.Lys1075Ter,ENST00000572273,;PI4KA,upstream_gene_variant,,ENST00000494113,;PI4KA,downstream_gene_variant,,ENST00000475414,;							HIGH	3397/6309	K1075*				Transcript			.	ENSP00000255882		CCDS33603.2			1	
LATS1	0	LGGM	GRCh37	6	150005149	150005149	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	37	4	.	.	ENST00000253339.5:c.1076A>T	p.His359Leu	p.H359L	ENST00000253339		359	cAc/cTc	0	1		UPI0000073DC2	0	NA	ENST00000253339		ENSG00000131023	6514		41	0		HGNC	p.H359L		LATS1		SNV							ENST00000392273	protein_coding	getma.org/?cm=var&var=hg19,6,150005149,T,A&fts=all		hmmpanther:PTHR24356:SF138,hmmpanther:PTHR24356		H/L		A	neutral	1304/4256		getma.org/?cm=msa&ty=f&p=LATS1_HUMAN&rb=339&re=538&var=H359L	tolerated_low_confidence(0.28)					LATS1,missense_variant,p.His359Leu,ENST00000543571,NM_004690.3;LATS1,missense_variant,p.His359Leu,ENST00000253339,;LATS1,missense_variant,p.His359Leu,ENST00000392273,NM_001270519.1;LATS1,downstream_gene_variant,,ENST00000458696,;LATS1,non_coding_transcript_exon_variant,,ENST00000542747,;LATS1,3_prime_UTR_variant,,ENST00000441107,;LATS1,downstream_gene_variant,,ENST00000542720,;							MODERATE	1076/3393	H359L	LATS1_HUMAN			Transcript		benign(0.071)	.	ENSP00000253339		CCDS34551.1			1	
DNAH17	0	LGGM	GRCh37	17	76450605	76450605	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	49	4	.	.	ENST00000389840.5:c.10311G>A	p.Trp3437Ter	p.W3437*	ENST00000389840		3437	tgG/tgA	0	1	1	UPI0001A5EE11	0	NA	ENST00000389840		ENSG00000187775	2946		53	0		HGNC	p.W3437X		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76450605,C,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12781		W/*		T	NA	10436/13792		NA					YES	DNAH17,stop_gained,p.Trp3437Ter,ENST00000389840,;DNAH17,stop_gained,p.Trp3446Ter,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,non_coding_transcript_exon_variant,,ENST00000592152,;DNAH17,stop_gained,p.Trp652Ter,ENST00000591369,;DNAH17,upstream_gene_variant,,ENST00000590227,;							HIGH	10311/13458	W3437*	DYH17_HUMAN			Transcript			.	ENSP00000374490					1	
SEC24A	0	LGGM	GRCh37	5	134059293	134059293	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	35	4	.	.	ENST00000398844.2:c.3100A>T	p.Arg1034Ter	p.R1034*	ENST00000398844	NM_021982.2	1034	Aga/Tga	0	1	1	UPI0000185FF9	0	NA	ENST00000398844		ENSG00000113615	10703		39	0		HGNC	p.R1034X		SEC24A		SNV							ENST00000398844	protein_coding	getma.org/?cm=var&var=hg19,5,134059293,A,T&fts=all		Superfamily_domains:SSF82754,Pfam_domain:PF00626,Gene3D:3.40.20.10,hmmpanther:PTHR13803,hmmpanther:PTHR13803:SF1		R/*		T	NA	3388/6299		NA					YES	SEC24A,stop_gained,p.Arg1034Ter,ENST00000398844,NM_021982.2;							HIGH	3100/3282	R1034*	SC24A_HUMAN			Transcript			.	ENSP00000381823		CCDS43363.1			1	
WDFY4	0	LGGM	GRCh37	10	50034763	50034763	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	44	4	.	.	ENST00000325239.5:c.6030A>T	p.Leu2010Phe	p.L2010F	ENST00000325239	NM_020945.1	2010	ttA/ttT	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		48	2.015		HGNC	p.L2010F		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,50034763,A,T&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		L/F		T	medium	6057/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=2001&re=2200&var=L2010F	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Leu2010Phe,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Leu97Phe,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,downstream_gene_variant,,ENST00000374161,;							MODERATE	6030/9555	L2010F	WDFY4_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000320563		CCDS44385.1			1	
SYK	0	LGGM	GRCh37	9	93606481	93606481	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	22	4	.	.	ENST00000375746.1:c.301T>A	p.Cys101Ser	p.C101S	ENST00000375746	NM_001174167.1	101	Tgc/Agc	0	1		UPI000012E0DD	0	getma.org/pdb.php?prot=KSYK_HUMAN&from=15&to=107&var=C101S	ENST00000375746		ENSG00000165025	11491		26	2.04		HGNC	p.C101S		SYK		SNV							ENST00000375747	protein_coding	getma.org/?cm=var&var=hg19,9,93606481,T,A&fts=all		Superfamily_domains:SSF55550,PIRSF_domain:PIRSF000604,Gene3D:3.30.505.10,PROSITE_profiles:PS50001		C/S		A	medium	434/4990		getma.org/?cm=msa&ty=f&p=KSYK_HUMAN&rb=15&re=107&var=C101S	tolerated(0.1)					SYK,missense_variant,p.Cys101Ser,ENST00000375754,NM_003177.5;SYK,missense_variant,p.Cys101Ser,ENST00000375746,NM_001174167.1;SYK,missense_variant,p.Cys101Ser,ENST00000375751,NM_001135052.2;SYK,missense_variant,p.Cys101Ser,ENST00000375747,NM_001174168.1;SYK,non_coding_transcript_exon_variant,,ENST00000476708,;							MODERATE	301/1908	C101S	KSYK_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000364898		CCDS6688.1			1	
FOXS1	0	LGGM	GRCh37	20	30432705	30432705	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	10	4	.	.	ENST00000375978.3:c.641C>T	p.Ser214Leu	p.S214L	ENST00000375978	NM_004118.3	214	tCa/tTa	0	1	1	UPI000003603C	0	NA	ENST00000375978		ENSG00000179772	3735		14	0.55		HGNC	p.S214L	COSM3545098	FOXS1		SNV						1	ENST00000375978	protein_coding	getma.org/?cm=var&var=hg19,20,30432705,G,A&fts=all		hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF68		S/L		A	neutral	716/1318		getma.org/?cm=msa&ty=f&p=FOXS1_HUMAN&rb=177&re=328&var=S214L	tolerated(0.06)				YES	FOXS1,missense_variant,p.Ser214Leu,ENST00000375978,NM_004118.3;DUSP15,downstream_gene_variant,,ENST00000278979,;DUSP15,downstream_gene_variant,,ENST00000447647,;					1		MODERATE	641/993	S214L	FOXS1_HUMAN			Transcript		benign(0.051)	.	ENSP00000365145		CCDS13192.1			1	
NGB	0	LGGM	GRCh37	14	77734898	77734898	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	45	4	.	.	ENST00000298352.4:c.232A>T	p.Asn78Tyr	p.N78Y	ENST00000298352	NM_021257.3	78	Aat/Tat	0	1	1	UPI0000073D72	0	getma.org/pdb.php?prot=NGB_HUMAN&from=5&to=114&var=N78Y	ENST00000298352		ENSG00000165553	14077		49	0.28		HGNC	p.N78Y		NGB		SNV							ENST00000298352	protein_coding	getma.org/?cm=var&var=hg19,14,77734898,T,A&fts=all		PROSITE_profiles:PS01033,hmmpanther:PTHR22924,Gene3D:1.10.490.10,Pfam_domain:PF00042,Superfamily_domains:SSF46458		N/Y		A	neutral	607/1884		getma.org/?cm=msa&ty=f&p=NGB_HUMAN&rb=5&re=114&var=N78Y	tolerated(0.26)	A0M8W9_HUMAN			YES	NGB,missense_variant,p.Asn78Tyr,ENST00000298352,NM_021257.3;MIR1260A,downstream_gene_variant,,ENST00000408827,;							MODERATE	232/456	N78Y	NGB_HUMAN			Transcript		possibly_damaging(0.79)	.	ENSP00000298352		CCDS9856.1			1	
ANKRD50	0	LGGM	GRCh37	4	125631572	125631572	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	66	4	.	.	ENST00000504087.1:c.95A>C	p.Lys32Thr	p.K32T	ENST00000504087	NM_020337.2	32	aAg/aCg	0	1	1	UPI00002377E8	0	NA	ENST00000504087		ENSG00000151458	29223		70	1.735		HGNC	p.K32T		ANKRD50		SNV							ENST00000504087	protein_coding	getma.org/?cm=var&var=hg19,4,125631572,T,G&fts=all		hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151		K/T		G	low	1133/8794		getma.org/?cm=msa&ty=f&p=ANR50_HUMAN&rb=1&re=200&var=K32T	deleterious(0)	Q8TB46_HUMAN			YES	ANKRD50,missense_variant,p.Lys32Thr,ENST00000504087,NM_020337.2;ANKRD50,intron_variant,,ENST00000515641,NM_001167882.1;							MODERATE	95/4290	K32T	ANR50_HUMAN			Transcript		possibly_damaging(0.89)	.	ENSP00000425658		CCDS34060.1			1	
ANKRD50	0	LGGM	GRCh37	4	125631591	125631591	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	69	4	.	.	ENST00000504087.1:c.76A>C	p.Arg26=	p.R26=	ENST00000504087	NM_020337.2	26	Agg/Cgg	0	1	1	UPI00002377E8	0		ENST00000504087		ENSG00000151458	29223		73			HGNC	p.R26R		ANKRD50		SNV							ENST00000504087	protein_coding			hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151		R		G		1114/8794				Q8TB46_HUMAN			YES	ANKRD50,synonymous_variant,p.=,ENST00000504087,NM_020337.2;ANKRD50,intron_variant,,ENST00000515641,NM_001167882.1;							LOW	76/4290		ANR50_HUMAN			Transcript			.	ENSP00000425658		CCDS34060.1			1	
ZNF85	0	LGGM	GRCh37	19	21132193	21132193	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	29	4	.	.	ENST00000328178.8:c.873T>A	p.Cys291Ter	p.C291*	ENST00000328178	NM_003429.4	291	tgT/tgA	0	1	1	UPI0000203897	0	NA	ENST00000328178		ENSG00000105750	13160		33	0		HGNC	p.C214X		ZNF85		SNV							ENST00000599064	protein_coding	getma.org/?cm=var&var=hg19,19,21132193,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355		C/*		A	NA	986/2296		NA		M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN			YES	ZNF85,stop_gained,p.Cys232Ter,ENST00000601023,;ZNF85,stop_gained,p.Cys291Ter,ENST00000328178,NM_003429.4,NM_001256173.1;ZNF85,stop_gained,p.Cys258Ter,ENST00000345030,;ZNF85,stop_gained,p.Cys239Ter,ENST00000596534,;ZNF85,stop_gained,p.Cys214Ter,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000601284,;							HIGH	873/1788	C291*	ZNF85_HUMAN			Transcript			.	ENSP00000329793		CCDS32977.1			1	
AKAP1	0	LGGM	GRCh37	17	55183052	55183052	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	22	4	.	.	ENST00000337714.3:c.227A>T	p.Glu76Val	p.E76V	ENST00000337714	NM_003488.3	76	gAg/gTg	0	1	1	UPI0000125778	0	NA	ENST00000337714		ENSG00000121057	367		26	0.345		HGNC	p.E76V		AKAP1		SNV							ENST00000337714	protein_coding	getma.org/?cm=var&var=hg19,17,55183052,A,T&fts=all		hmmpanther:PTHR12727,Low_complexity_(Seg):seg		E/V		T	neutral	460/3970		getma.org/?cm=msa&ty=f&p=AKAP1_HUMAN&rb=1&re=360&var=E76V	tolerated(0.06)	I3L3L9_HUMAN,I3L3K1_HUMAN,I3L364_HUMAN,I3L2N7_HUMAN,I3L2A2_HUMAN,I3L0K6_HUMAN			YES	AKAP1,missense_variant,p.Glu76Val,ENST00000337714,NM_003488.3;AKAP1,missense_variant,p.Glu76Val,ENST00000539273,NM_001242903.1;AKAP1,missense_variant,p.Glu76Val,ENST00000571629,NM_001242902.1;AKAP1,missense_variant,p.Glu76Val,ENST00000572557,;AKAP1,missense_variant,p.Glu76Val,ENST00000314126,;AKAP1,missense_variant,p.Glu76Val,ENST00000572156,;AKAP1,missense_variant,p.Glu76Val,ENST00000575322,;AKAP1,missense_variant,p.Glu76Val,ENST00000574683,;AKAP1,missense_variant,p.Glu76Val,ENST00000576591,;AKAP1,missense_variant,p.Glu76Val,ENST00000572814,;AKAP1,upstream_gene_variant,,ENST00000576295,;AKAP1,downstream_gene_variant,,ENST00000575186,;AKAP1,downstream_gene_variant,,ENST00000570423,;AKAP1,downstream_gene_variant,,ENST00000573085,;AKAP1,missense_variant,p.Glu76Val,ENST00000481416,;AKAP1,upstream_gene_variant,,ENST00000573326,;							MODERATE	227/2712	E76V	AKAP1_HUMAN			Transcript		benign(0.021)	.	ENSP00000337736		CCDS11594.1			1	
TFPI2	0	LGGM	GRCh37	7	93518458	93518458	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	91	4	.	.	ENST00000222543.5:c.349C>A	p.Leu117Ile	p.L117I	ENST00000222543	NM_001271004.1	117	Cta/Ata	0	1	1	UPI00000362E2	0	getma.org/pdb.php?prot=TFPI2_HUMAN&from=95&to=150&var=L117I	ENST00000222543		ENSG00000105825	11761		95	1.14		HGNC	p.L95I		TFPI2		SNV							ENST00000545378	protein_coding	getma.org/?cm=var&var=hg19,7,93518458,G,T&fts=all		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		L/I		T	low	662/2444		getma.org/?cm=msa&ty=f&p=TFPI2_HUMAN&rb=95&re=150&var=L117I	deleterious(0.01)	Q8NE89_HUMAN,Q8NAK6_HUMAN			YES	TFPI2,missense_variant,p.Leu117Ile,ENST00000222543,NM_001271004.1,NM_001271003.1,NM_006528.3;TFPI2,missense_variant,p.Leu95Ile,ENST00000545378,;TFPI2,missense_variant,p.Leu38Ile,ENST00000451238,;GNGT1,intron_variant,,ENST00000455502,;AC002076.10,upstream_gene_variant,,ENST00000435257,;TFPI2,downstream_gene_variant,,ENST00000461482,;							MODERATE	349/708	L117I	TFPI2_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000222543		CCDS5632.1			1	
ZFYVE16	0	LGGM	GRCh37	5	79734579	79734579	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	57	4	.	.	ENST00000338008.5:c.2075A>T	p.Asp692Val	p.D692V	ENST00000338008	NM_014733.3	692	gAt/gTt	0	1	1	UPI000013F4A0	0	NA	ENST00000338008		ENSG00000039319	20756		61	0.975		HGNC	p.D692V		ZFYVE16		SNV							ENST00000510158	protein_coding	getma.org/?cm=var&var=hg19,5,79734579,A,T&fts=all		PIRSF_domain:PIRSF037289,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43		D/V		T	low	2255/6773		getma.org/?cm=msa&ty=f&p=ZFY16_HUMAN&rb=644&re=712&var=D692V	deleterious(0.03)	B3KXA7_HUMAN			YES	ZFYVE16,missense_variant,p.Asp692Val,ENST00000338008,NM_014733.3,NM_001284236.1;ZFYVE16,missense_variant,p.Asp692Val,ENST00000510158,NM_001105251.1;ZFYVE16,missense_variant,p.Asp692Val,ENST00000505560,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;ZFYVE16,upstream_gene_variant,,ENST00000511829,;ZFYVE16,downstream_gene_variant,,ENST00000509562,;ZFYVE16,upstream_gene_variant,,ENST00000509558,;							MODERATE	2075/4620	D692V	ZFY16_HUMAN			Transcript		benign(0.393)	.	ENSP00000337159		CCDS4050.1			1	
PTPN5	0	LGGM	GRCh37	11	18765657	18765657	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	30	4	.	.	ENST00000358540.2:c.187T>A	p.Ser63Thr	p.S63T	ENST00000358540	NM_006906.1	63	Tcg/Acg	0	1	1	UPI00001AE663	0	NA	ENST00000358540		ENSG00000110786	9657		34	0.55		HGNC	p.S63T		PTPN5		SNV							ENST00000358540	protein_coding	getma.org/?cm=var&var=hg19,11,18765657,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19134:SF40,hmmpanther:PTHR19134,PIRSF_domain:PIRSF001997		S/T		T	neutral	618/3135		getma.org/?cm=msa&ty=f&p=PTN5_HUMAN&rb=1&re=200&var=S63T	tolerated_low_confidence(0.09)	Q86TL3_HUMAN,E9PLZ4_HUMAN,B7ZAF5_HUMAN			YES	PTPN5,missense_variant,p.Ser63Thr,ENST00000396170,NM_001278236.1;PTPN5,missense_variant,p.Ser63Thr,ENST00000358540,NM_006906.1;PTPN5,missense_variant,p.Ser63Thr,ENST00000396171,NM_032781.3;PTPN5,missense_variant,p.Ser63Thr,ENST00000396167,NM_001278239.1,NM_001039970.1;PTPN5,missense_variant,p.Ser39Thr,ENST00000396168,NM_001278238.1;PTPN5,upstream_gene_variant,,ENST00000477854,;RP11-1081L13.4,downstream_gene_variant,,ENST00000527285,;PTPN5,non_coding_transcript_exon_variant,,ENST00000496201,;							MODERATE	187/1698	S63T	PTN5_HUMAN			Transcript		benign(0.031)	.	ENSP00000351342		CCDS7845.1			1	
IER5L	0	LGGM	GRCh37	9	131939622	131939622	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	7	4	.	.	ENST00000372491.2:c.710G>C	p.Arg237Pro	p.R237P	ENST00000372491	NM_203434.2	237	cGg/cCg	0	1	1	UPI0000160E13	0	NA	ENST00000372491		ENSG00000188483	23679		11	0.805		HGNC	p.R237P		IER5L		SNV							ENST00000372491	protein_coding	getma.org/?cm=var&var=hg19,9,131939622,C,G&fts=all		Pfam_domain:PF05760,hmmpanther:PTHR15895:SF11,hmmpanther:PTHR15895		R/P		G	low	919/2706		getma.org/?cm=msa&ty=f&p=IER5L_HUMAN&rb=1&re=404&var=R237P	deleterious_low_confidence(0)				YES	IER5L,missense_variant,p.Arg237Pro,ENST00000372491,NM_203434.2;RP11-247A12.2,intron_variant,,ENST00000372490,;RP11-247A12.8,intron_variant,,ENST00000599172,;							MODERATE	710/1215	R237P	IER5L_HUMAN			Transcript		unknown(0)	.	ENSP00000361569		CCDS43888.1			1	
DNAH17	0	LGGM	GRCh37	17	76450607	76450607	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	47	4	.	.	ENST00000389840.5:c.10309T>A	p.Trp3437Arg	p.W3437R	ENST00000389840		3437	Tgg/Agg	0	1	1	UPI0001A5EE11	0	getma.org/pdb.php?prot=DYH17_HUMAN&from=3390&to=3617&var=W3437R	ENST00000389840		ENSG00000187775	2946		51	4.855		HGNC	p.W3437R		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76450607,A,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12781		W/R		T	high	10434/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=3390&re=3617&var=W3437R					YES	DNAH17,missense_variant,p.Trp3437Arg,ENST00000389840,;DNAH17,missense_variant,p.Trp3446Arg,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,non_coding_transcript_exon_variant,,ENST00000592152,;DNAH17,missense_variant,p.Trp652Arg,ENST00000591369,;DNAH17,upstream_gene_variant,,ENST00000590227,;							MODERATE	10309/13458	W3437R	DYH17_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000374490					1	
STOML3	0	LGGM	GRCh37	13	39540962	39540962	+	stop_lost	Nonstop_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	41	4	.	.	ENST00000379631.4:c.876A>T	p.Ter292CysextTer23	p.*292Cext*23	ENST00000379631	NM_145286.2	292	tgA/tgT	0	1	1	UPI000003615B	0		ENST00000379631		ENSG00000133115	19420		45			HGNC	p.X283C		STOML3		SNV							ENST00000423210	protein_coding					*/C		A		1221/2121							YES	STOML3,stop_lost,p.Ter292CysextTer23,ENST00000379631,NM_145286.2;STOML3,stop_lost,p.Ter283CysextTer23,ENST00000423210,NM_001144033.1;							HIGH	876/876		STML3_HUMAN			Transcript			.	ENSP00000368952		CCDS9367.1			1	
HMCN1	0	LGGM	GRCh37	1	185891616	185891616	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	21	4	.	.	ENST00000271588.4:c.1006A>T	p.Ser336Cys	p.S336C	ENST00000271588	NM_031935.2	336	Agc/Tgc	0	1	1	UPI0000458C0E	0	NA	ENST00000271588		ENSG00000143341	19194		25	1.39		HGNC	p.S336C		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185891616,A,T&fts=all		hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158		S/C		T	low	1235/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=213&re=342&var=S336C					YES	HMCN1,missense_variant,p.Ser336Cys,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ser336Cys,ENST00000367492,;							MODERATE	1006/16908	S336C	HMCN1_HUMAN			Transcript		benign(0.282)	.	ENSP00000271588		CCDS30956.1			1	
RPS13	0	LGGM	GRCh37	11	17099015	17099015	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	16	4	.	.	ENST00000525634.1:c.33G>C	p.Leu11=	p.L11=	ENST00000525634		11	ctG/ctC	0	1	1	UPI0000003EFE	0		ENST00000525634		ENSG00000110700	10386		20			HGNC	p.L11L	rs770848805	RPS13	6.09E-05	SNV							ENST00000525634	protein_coding			HAMAP:MF_01343_A,hmmpanther:PTHR11885,Pfam_domain:PF08069		L		G		179/646							YES	RPS13,synonymous_variant,p.=,ENST00000525634,;RPS13,synonymous_variant,p.=,ENST00000228140,NM_001017.2;RPS13,synonymous_variant,p.=,ENST00000533969,;SNORD14A,upstream_gene_variant,,ENST00000606526,NR_000022.1;SNORD14B,upstream_gene_variant,,ENST00000364533,NR_001452.1;AC116533.1,downstream_gene_variant,,ENST00000408395,;RPS13,non_coding_transcript_exon_variant,,ENST00000526895,;PIK3C2A,downstream_gene_variant,,ENST00000531428,;RPS13,non_coding_transcript_exon_variant,,ENST00000527571,;RPS13,non_coding_transcript_exon_variant,,ENST00000525828,;RPS13,non_coding_transcript_exon_variant,,ENST00000528074,;RPS13,non_coding_transcript_exon_variant,,ENST00000534329,;RPS13,upstream_gene_variant,,ENST00000531908,;RPS13,upstream_gene_variant,,ENST00000531008,;							LOW	33/456		RS13_HUMAN			Transcript			.	ENSP00000435777	8.24E-06	CCDS7823.1			1	
VCAN	0	LGGM	GRCh37	5	82835325	82835325	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	35	4	.	.	ENST00000265077.3:c.6503A>C	p.Lys2168Thr	p.K2168T	ENST00000265077	NM_004385.4	2168	aAa/aCa	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		39	0.695		HGNC	p.K1181T		VCAN		SNV			1				ENST00000513960	protein_coding	getma.org/?cm=var&var=hg19,5,82835325,A,C&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		K/T		C	neutral	7068/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2081&re=2216&var=K2168T	tolerated(0.37)				YES	VCAN,missense_variant,p.Lys2168Thr,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Lys1181Thr,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Lys1181Thr,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	6503/10191	K2168T	CSPG2_HUMAN			Transcript		benign(0.025)	.	ENSP00000265077		CCDS4060.1			1	
FCN2	0	LGGM	GRCh37	9	137777083	137777083	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	19	5	.	.	ENST00000291744.6:c.302-2A>T		p.X101_splice	ENST00000291744	NM_004108.2			0	1	1	UPI000013E075	0		ENST00000291744		ENSG00000160339	3624		24			HGNC	-		FCN2		SNV							ENST00000350339	protein_coding							T		-/1057							YES	FCN2,splice_acceptor_variant,,ENST00000350339,NM_015837.2;FCN2,splice_acceptor_variant,,ENST00000291744,NM_004108.2;							HIGH	302/942		FCN2_HUMAN			Transcript			.	ENSP00000291744		CCDS6983.1			1	
DYNC1I1	0	LGGM	GRCh37	7	95662094	95662094	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	33	5	.	.	ENST00000324972.6:c.1281+2T>A		p.X427_splice	ENST00000324972	NM_004411.4			0	1	1	UPI0000129A01	0		ENST00000324972		ENSG00000158560	2963		38			HGNC	-		DYNC1I1		SNV							ENST00000447467	protein_coding							A		-/2950				Q75MI9_HUMAN,Q75LS9_HUMAN,A4D1I7_HUMAN			YES	DYNC1I1,splice_donor_variant,,ENST00000324972,NM_004411.4;DYNC1I1,splice_donor_variant,,ENST00000447467,NM_001135556.1;DYNC1I1,splice_donor_variant,,ENST00000437599,NM_001278421.1;DYNC1I1,splice_donor_variant,,ENST00000359388,NM_001135557.1;DYNC1I1,splice_donor_variant,,ENST00000457059,;DYNC1I1,splice_donor_variant,,ENST00000537881,NM_001278422.1;DYNC1I1,splice_donor_variant,,ENST00000497626,;DYNC1I1,downstream_gene_variant,,ENST00000519371,;							HIGH	1281/1938		DC1I1_HUMAN			Transcript			.	ENSP00000320130		CCDS5644.1			1	
ZNF687	0	LGGM	GRCh37	1	151260543	151260543	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	64	5	.	.	ENST00000324048.5:c.1776G>A	p.Met592Ile	p.M592I	ENST00000324048		592	atG/atA	0	1	1	UPI00000721F7	0	NA	ENST00000324048		ENSG00000143373	29277		69	2.015		HGNC	p.M592I		ZNF687		SNV							ENST00000368879	protein_coding	getma.org/?cm=var&var=hg19,1,151260543,G,A&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF108		M/I		A	medium	2746/5378		getma.org/?cm=msa&ty=f&p=ZN687_HUMAN&rb=528&re=727&var=M592I	deleterious(0)				YES	ZNF687,missense_variant,p.Met592Ile,ENST00000324048,;ZNF687,missense_variant,p.Met592Ile,ENST00000336715,;ZNF687,missense_variant,p.Met592Ile,ENST00000368879,NM_020832.1;ZNF687,missense_variant,p.Met195Ile,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000368875,NM_002651.2;PI4KB,downstream_gene_variant,,ENST00000368874,NM_001198774.1;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000368872,NM_001198773.1;PI4KB,downstream_gene_variant,,ENST00000529142,NM_001198775.1;PI4KB,downstream_gene_variant,,ENST00000455060,;ZNF687,downstream_gene_variant,,ENST00000443959,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,missense_variant,p.Met592Ile,ENST00000449313,;ZNF687,upstream_gene_variant,,ENST00000459919,;							MODERATE	1776/3714	M592I	ZN687_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000319829		CCDS992.1			1	
BDP1	0	LGGM	GRCh37	5	70819902	70819902	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	52	5	.	.	ENST00000358731.4:c.5524A>T	p.Arg1842Ter	p.R1842*	ENST00000358731	NM_018429.2	1842	Aga/Tga	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		57	0		HGNC	p.R1842X		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70819902,A,T&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		R/*		T	NA	5787/11073		NA					YES	BDP1,stop_gained,p.Arg1842Ter,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,stop_gained,p.Arg99Ter,ENST00000514903,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;							HIGH	5524/7875	R1842*	BDP1_HUMAN			Transcript			.	ENSP00000351575		CCDS43328.1			1	
SLITRK3	0	LGGM	GRCh37	3	164906816	164906816	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	36	5	.	.	ENST00000475390.1:c.1803T>A	p.Asp601Glu	p.D601E	ENST00000475390		601	gaT/gaA	0	1		UPI000004F259	0	NA	ENST00000241274		ENSG00000121871	23501		41	1.055		HGNC	p.D601E		SLITRK3		SNV							ENST00000475390	protein_coding	getma.org/?cm=var&var=hg19,3,164906816,A,T&fts=all		Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14		D/E		T	low	2085/4391		getma.org/?cm=msa&ty=f&p=SLIK3_HUMAN&rb=562&re=613&var=D601E	tolerated(0.25)	C9K0R4_HUMAN				SLITRK3,missense_variant,p.Asp601Glu,ENST00000475390,;SLITRK3,missense_variant,p.Asp601Glu,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;							MODERATE	1803/2934	D601E	SLIK3_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000241274		CCDS3197.1			1	
LPPR5	0	LGGM	GRCh37	1	99387579	99387579	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	39	5	.	.	ENST00000263177.4:c.657C>T	p.Thr219=	p.T219=	ENST00000263177	NM_001037317.1	219	acC/acT	0	1	1	UPI0000048D53	0		ENST00000263177		ENSG00000117598			44			Uniprot_gn	p.T219T		LPPR5		SNV							ENST00000370188	protein_coding			Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF17,SMART_domains:SM00014,Superfamily_domains:SSF48317		T		A		879/3288							YES	LPPR5,synonymous_variant,p.=,ENST00000370188,NM_001010861.2;LPPR5,synonymous_variant,p.=,ENST00000263177,NM_001037317.1;							LOW	657/966		LPPR5_HUMAN			Transcript			.	ENSP00000263177		CCDS30778.1			1	
AP3D1	0	LGGM	GRCh37	19	2121768	2121768	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	44	5	.	.	ENST00000355272.6:c.1066A>T	p.Ile356Phe	p.I356F	ENST00000355272	NM_001261826.1	356	Atc/Ttc	0	1		UPI0000125031	0	getma.org/pdb.php?prot=AP3D1_HUMAN&from=32&to=583&var=I356F	ENST00000345016		ENSG00000065000	568		49	3.88		HGNC	p.I356F		AP3D1		SNV							ENST00000355272	protein_coding	getma.org/?cm=var&var=hg19,19,2121768,T,A&fts=all		Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037092,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22781		I/F		A	high	1298/4871		getma.org/?cm=msa&ty=f&p=AP3D1_HUMAN&rb=32&re=583&var=I356F	deleterious(0)	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN				AP3D1,missense_variant,p.Ile356Phe,ENST00000355272,NM_001261826.1;AP3D1,missense_variant,p.Ile356Phe,ENST00000345016,NM_003938.6;AP3D1,missense_variant,p.Ile265Phe,ENST00000356926,;AP3D1,missense_variant,p.Ile187Phe,ENST00000350812,;AP3D1,non_coding_transcript_exon_variant,,ENST00000590683,;AP3D1,upstream_gene_variant,,ENST00000591631,;AP3D1,upstream_gene_variant,,ENST00000586177,;							MODERATE	1066/3462	I356F	AP3D1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000344055		CCDS42459.1			1	
ARHGAP17	0	LGGM	GRCh37	16	24975572	24975572	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	77	5	.	.	ENST00000289968.6:c.519A>T	p.Ile173=	p.I173=	ENST00000289968	NM_001006634.1	173	atA/atT	0	1	1	UPI00000433FD	0		ENST00000289968		ENSG00000140750	18239		82			HGNC	p.I173I		ARHGAP17		SNV							ENST00000289968	protein_coding			Gene3D:1.20.1270.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR14130,hmmpanther:PTHR14130:SF3,SMART_domains:SM00721,Superfamily_domains:SSF103657		I		A		589/3461				I3L4P6_HUMAN			YES	ARHGAP17,synonymous_variant,p.=,ENST00000289968,NM_001006634.1;ARHGAP17,synonymous_variant,p.=,ENST00000441763,;ARHGAP17,synonymous_variant,p.=,ENST00000303665,NM_018054.4;ARHGAP17,synonymous_variant,p.=,ENST00000455311,;ARHGAP17,downstream_gene_variant,,ENST00000573449,;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575975,;ARHGAP17,3_prime_UTR_variant,,ENST00000571480,;ARHGAP17,3_prime_UTR_variant,,ENST00000573625,;ARHGAP17,upstream_gene_variant,,ENST00000575656,;ARHGAP17,downstream_gene_variant,,ENST00000575447,;ARHGAP17,downstream_gene_variant,,ENST00000571575,;							LOW	519/2646		RHG17_HUMAN			Transcript			.	ENSP00000289968		CCDS32409.1			1	
CTSV	0	LGGM	GRCh37	9	99795321	99795321	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	28	5	.	.	ENST00000259470.5:c.915A>T	p.Pro305=	p.P305=	ENST00000259470	NM_001333.3	305	ccA/ccT	0	1	1	UPI0000001C15	0		ENST00000259470		ENSG00000136943	2538		33			HGNC	p.P305P		CTSV		SNV							ENST00000538255	protein_coding			Gene3D:3.90.70.10,Pfam_domain:PF00112,PROSITE_patterns:PS00640,hmmpanther:PTHR12411,hmmpanther:PTHR12411:SF306,SMART_domains:SM00645,Superfamily_domains:SSF54001		P		A		1165/1546							YES	CTSV,synonymous_variant,p.=,ENST00000259470,NM_001333.3;CTSV,synonymous_variant,p.=,ENST00000538255,NM_001201575.1;CTSV,downstream_gene_variant,,ENST00000479932,;							LOW	915/1005		CATL2_HUMAN			Transcript			.	ENSP00000259470		CCDS6723.1			1	
MAK	0	LGGM	GRCh37	6	10764707	10764707	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	18	5	.	.	ENST00000313243.2:c.1850C>A	p.Ala617Asp	p.A617D	ENST00000313243		617	gCc/gAc	0	1	1	UPI0000001BCD	0	NA	ENST00000313243		ENSG00000111837	6816		23	2.215		HGNC	p.A617D		MAK		SNV			1				ENST00000354489	protein_coding	getma.org/?cm=var&var=hg19,6,10764707,G,T&fts=all				A/D		T	medium	2233/3984		getma.org/?cm=msa&ty=f&p=MAK_HUMAN&rb=371&re=621&var=A617D	deleterious(0)				YES	MAK,missense_variant,p.Ala617Asp,ENST00000313243,;MAK,missense_variant,p.Ala617Asp,ENST00000474039,NM_001242957.1,NM_001242385.1,NM_005906.4;MAK,missense_variant,p.Ala617Asp,ENST00000354489,;MAK,3_prime_UTR_variant,,ENST00000538030,;SYCP2L,intron_variant,,ENST00000543878,;TMEM14B,downstream_gene_variant,,ENST00000467317,NM_001286488.1;TMEM14B,downstream_gene_variant,,ENST00000481240,NM_001286489.1;RP11-637O19.3,intron_variant,,ENST00000480294,;TMEM14B,intron_variant,,ENST00000463448,;TMEM14B,intron_variant,,ENST00000473166,;TMEM14B,intron_variant,,ENST00000460341,;TMEM14B,intron_variant,,ENST00000473807,;TMEM14B,intron_variant,,ENST00000463100,;TMEM14B,intron_variant,,ENST00000467229,;TMEM14B,intron_variant,,ENST00000478732,;							MODERATE	1850/1872	A617D	MAK_HUMAN			Transcript		possibly_damaging(0.862)	.	ENSP00000313021		CCDS4516.1			1	
NEK7	0	LGGM	GRCh37	1	198225544	198225544	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	77	5	.	.	ENST00000367385.4:c.198+3234A>T		*66*	ENST00000367385	NM_133494.2			0	1	1	UPI0000073180	0		ENST00000367385		ENSG00000151414	13386		82			HGNC	p.L95L		NEK7		SNV							ENST00000367383	protein_coding							T		-/4149				F8WAG2_HUMAN,F5H3U7_HUMAN,C9J1H8_HUMAN			YES	NEK7,synonymous_variant,p.=,ENST00000367383,;NEK7,intron_variant,,ENST00000367385,NM_133494.2;NEK7,intron_variant,,ENST00000538004,;NEK7,intron_variant,,ENST00000391974,;NEK7,downstream_gene_variant,,ENST00000544035,;NEK7,downstream_gene_variant,,ENST00000442588,;							MODIFIER	-/909		NEK7_HUMAN			Transcript			.	ENSP00000356355		CCDS1394.1			1	
CTNNA2	0	LGGM	GRCh37	2	79971587	79971587	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	37	5	.	.	ENST00000466387.1:c.177A>T	p.Val59=	p.V59=	ENST00000466387		59	gtA/gtT	0	1		UPI0000D9D4EC	0		ENST00000402739		ENSG00000066032	2510		42			HGNC	p.V59V		CTNNA2		SNV							ENST00000541047	protein_coding			Superfamily_domains:SSF47220,Gene3D:1.20.120.230,Pfam_domain:PF01044,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		V		T		182/3684				C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,synonymous_variant,p.=,ENST00000466387,;CTNNA2,synonymous_variant,p.=,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,synonymous_variant,p.=,ENST00000402739,NM_001282597.1;CTNNA2,synonymous_variant,p.=,ENST00000541047,;CTNNA2,synonymous_variant,p.=,ENST00000361291,;CTNNA2,synonymous_variant,p.=,ENST00000540488,;CTNNA2,synonymous_variant,p.=,ENST00000409971,;CTNNA2,synonymous_variant,p.=,ENST00000451966,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000508970,;							LOW	177/2862		CTNA2_HUMAN			Transcript			.	ENSP00000384638		CCDS62944.1			1	
AHI1	0	LGGM	GRCh37	6	135787033	135787033	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	66	5	.	.	ENST00000367800.4:c.668C>G	p.Thr223Ser	p.T223S	ENST00000367800	NM_001134830.1	223	aCt/aGt	0	1		UPI00000701FB	0	NA	ENST00000265602		ENSG00000135541	21575		71	1.085		HGNC	p.T223S		AHI1		SNV			1				ENST00000367800	protein_coding	getma.org/?cm=var&var=hg19,6,135787033,G,C&fts=all				T/S		C	low	1063/4335		getma.org/?cm=msa&ty=f&p=AHI1_HUMAN&rb=5&re=334&var=T223S	tolerated(0.45)					AHI1,missense_variant,p.Thr223Ser,ENST00000367800,NM_001134830.1;AHI1,missense_variant,p.Thr223Ser,ENST00000457866,NM_017651.4;AHI1,missense_variant,p.Thr223Ser,ENST00000265602,NM_001134831.1;AHI1,missense_variant,p.Thr223Ser,ENST00000327035,NM_001134832.1;AHI1,missense_variant,p.Thr205Ser,ENST00000524469,;AHI1,missense_variant,p.Thr223Ser,ENST00000531788,;							MODERATE	668/3591	T223S	AHI1_HUMAN			Transcript		benign(0.01)	.	ENSP00000265602		CCDS47483.1			1	
PVRL3	0	LGGM	GRCh37	3	110831040	110831040	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	48	5	.	.	ENST00000485303.1:c.324A>G	p.Gln108=	p.Q108=	ENST00000485303	NM_001243286.1	108	caA/caG	0	1	1	UPI000004A2B6	0		ENST00000485303		ENSG00000177707	17664		53			HGNC	p.Q108Q	rs554073055	PVRL3		SNV				9.62E-05			ENST00000319792	protein_coding		G:0.0008	Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23277,hmmpanther:PTHR23277:SF10,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q		G		599/3664					G:0	G:0	YES	PVRL3,synonymous_variant,p.=,ENST00000485303,NM_001243286.1,NM_015480.2;PVRL3,synonymous_variant,p.=,ENST00000493615,NM_001243288.1;PVRL3,synonymous_variant,p.=,ENST00000319792,;PVRL3,synonymous_variant,p.=,ENST00000486596,;PVRL3,synonymous_variant,p.=,ENST00000461477,;PVRL3,synonymous_variant,p.=,ENST00000481766,;PVRL3,5_prime_UTR_variant,,ENST00000491525,;PVRL3,non_coding_transcript_exon_variant,,ENST00000488016,;PVRL3,non_coding_transcript_exon_variant,,ENST00000470618,;PVRL3,downstream_gene_variant,,ENST00000478327,;		G:0.0002					LOW	324/1650		PVRL3_HUMAN		G:0	Transcript			.	ENSP00000418070	8.24E-06	CCDS2957.1		G:0	1	
CLMP	0	LGGM	GRCh37	11	122954458	122954458	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	52	5	.	.	ENST00000448775.2:c.486T>A	p.Ile162=	p.I162=	ENST00000448775	NM_024769.2	162	atT/atA	0	1	1	UPI0000047815	0		ENST00000448775		ENSG00000166250	24039		57			HGNC	p.I162I		CLMP		SNV			1				ENST00000448775	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF73,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		I		T		827/2610							YES	CLMP,synonymous_variant,p.=,ENST00000448775,NM_024769.2;CLMP,upstream_gene_variant,,ENST00000530371,;CLMP,non_coding_transcript_exon_variant,,ENST00000527977,;CLMP,non_coding_transcript_exon_variant,,ENST00000529128,;							LOW	486/1122		CLMP_HUMAN			Transcript			.	ENSP00000405577		CCDS8441.1			1	
TSPEAR	0	LGGM	GRCh37	21	45941973	45941973	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	26	5	.	.	ENST00000323084.4:c.1359T>A	p.Ser453Arg	p.S453R	ENST00000323084	NM_001272037.1	453	agT/agA	0	1	1	UPI0000137746	0	NA	ENST00000323084		ENSG00000175894	1268		31	2.765		HGNC	p.S385R		TSPEAR		SNV			1				ENST00000397916	protein_coding	getma.org/?cm=var&var=hg19,21,45941973,A,T&fts=all		Pfam_domain:PF03736,hmmpanther:PTHR15261,PROSITE_profiles:PS50912		S/R		T	medium	1425/3967		getma.org/?cm=msa&ty=f&p=TSEAR_HUMAN&rb=411&re=460&var=S453R	deleterious(0)				YES	TSPEAR,missense_variant,p.Ser453Arg,ENST00000323084,NM_001272037.1,NM_144991.2;TSPEAR,missense_variant,p.Ser385Arg,ENST00000397916,;C21orf90,downstream_gene_variant,,ENST00000354333,;C21orf90,downstream_gene_variant,,ENST00000330490,;C21orf90,intron_variant,,ENST00000465978,;							MODERATE	1359/2010	S453R	TSEAR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321987		CCDS13712.1			1	
LRIG2	0	LGGM	GRCh37	1	113655316	113655316	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	48	5	.	.	ENST00000361127.5:c.2014A>G	p.Ile672Val	p.I672V	ENST00000361127	NM_014813.1	672	Atc/Gtc	0	1	1	UPI000006F613	0	getma.org/pdb.php?prot=LRIG2_HUMAN&from=602&to=692&var=I672V	ENST00000361127		ENSG00000198799	20889		53	-0.105		HGNC	p.I672V		LRIG2		SNV			1				ENST00000361127	protein_coding	getma.org/?cm=var&var=hg19,1,113655316,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF230,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		I/V		G	neutral	2212/11555		getma.org/?cm=msa&ty=f&p=LRIG2_HUMAN&rb=602&re=692&var=I672V	tolerated(1)				YES	LRIG2,missense_variant,p.Ile672Val,ENST00000361127,NM_014813.1;LRIG2,non_coding_transcript_exon_variant,,ENST00000492207,;LRIG2,non_coding_transcript_exon_variant,,ENST00000466161,;LRIG2,downstream_gene_variant,,ENST00000466069,;							MODERATE	2014/3198	I672V	LRIG2_HUMAN			Transcript		benign(0.001)	.	ENSP00000355396		CCDS30808.1			1	
OCLN	0	LGGM	GRCh37	5	68805029	68805029	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	76	5	.	.	ENST00000355237.2:c.112A>T	p.Met38Leu	p.M38L	ENST00000355237	NM_002538.3	38	Atg/Ttg	0	1	1	UPI00000341F0	0	NA	ENST00000355237		ENSG00000197822	8104		81	0.755		HGNC	p.M38L		OCLN		SNV			1				ENST00000396442	protein_coding	getma.org/?cm=var&var=hg19,5,68805029,A,T&fts=all		hmmpanther:PTHR23288:SF4,hmmpanther:PTHR23288,PIRSF_domain:PIRSF005993		M/L		T	neutral	548/6438		getma.org/?cm=msa&ty=f&p=OCLN_HUMAN&rb=1&re=56&var=M38L	tolerated(0.22)				YES	OCLN,missense_variant,p.Met38Leu,ENST00000355237,NM_002538.3;OCLN,missense_variant,p.Met38Leu,ENST00000380766,;OCLN,missense_variant,p.Met38Leu,ENST00000396442,NM_001205254.1;OCLN,intron_variant,,ENST00000538151,NM_001205255.1;OCLN,intron_variant,,ENST00000542132,;GUSBP3,intron_variant,,ENST00000380759,;							MODERATE	112/1569	M38L	OCLN_HUMAN			Transcript		benign(0.043)	.	ENSP00000347379		CCDS4006.1			1	
LMTK2	0	LGGM	GRCh37	7	97822078	97822078	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	78	5	.	.	ENST00000297293.5:c.2301A>T	p.Leu767Phe	p.L767F	ENST00000297293	NM_014916.3	767	ttA/ttT	0	1	1	UPI000014F277	0	NA	ENST00000297293		ENSG00000164715	17880		83	1.59		HGNC	p.L767F		LMTK2		SNV							ENST00000297293	protein_coding	getma.org/?cm=var&var=hg19,7,97822078,A,T&fts=all				L/F		T	low	2594/8946		getma.org/?cm=msa&ty=f&p=LMTK2_HUMAN&rb=736&re=1310&var=L767F	tolerated(0.07)				YES	LMTK2,missense_variant,p.Leu767Phe,ENST00000297293,NM_014916.3;							MODERATE	2301/4512	L767F	LMTK2_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000297293		CCDS5654.1			1	
POLE	0	LGGM	GRCh37	12	133209317	133209317	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	22	5	.	.	ENST00000320574.5:c.6069C>T	p.Thr2023=	p.T2023=	ENST00000320574	NM_006231.2	2023	acC/acT	0	1	1	UPI00001FBF97	0		ENST00000320574		ENSG00000177084	9177		27			HGNC	p.T2023T		POLE		SNV			1				ENST00000320574	protein_coding			hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0		T		A		6113/7840				Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN			YES	POLE,synonymous_variant,p.=,ENST00000320574,NM_006231.2;POLE,synonymous_variant,p.=,ENST00000535270,;POLE,non_coding_transcript_exon_variant,,ENST00000544870,;POLE,non_coding_transcript_exon_variant,,ENST00000441786,;POLE,downstream_gene_variant,,ENST00000434528,;POLE,upstream_gene_variant,,ENST00000538196,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,non_coding_transcript_exon_variant,,ENST00000544692,;POLE,non_coding_transcript_exon_variant,,ENST00000541213,;POLE,non_coding_transcript_exon_variant,,ENST00000544414,;POLE,upstream_gene_variant,,ENST00000534922,;POLE,downstream_gene_variant,,ENST00000416953,;							LOW	6069/6861		DPOE1_HUMAN			Transcript			.	ENSP00000322570		CCDS9278.1			1	
APC	0	LGGM	GRCh37	5	112102932	112102932	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	37	5	.	.	ENST00000257430.4:c.267A>T	p.Ser89=	p.S89=	ENST00000257430	NM_000038.5	89	tcA/tcT	0	1		UPI000013CF60	0		ENST00000257430		ENSG00000134982	583		42			HGNC	p.S89S		APC		SNV			1				ENST00000512211	protein_coding			hmmpanther:PTHR12607,hmmpanther:PTHR12607:SF11		S		T		323/10701				Q9UM98_HUMAN,Q9P119_HUMAN,Q9HAW6_HUMAN,Q4LE70_HUMAN,E9PFT7_HUMAN,D6RFL6_HUMAN,B2ZRE1_HUMAN,A5HB97_HUMAN,A5HB96_HUMAN,A5HB95_HUMAN,A5HB94_HUMAN,A1YIQ7_HUMAN				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,synonymous_variant,p.=,ENST00000509732,;APC,downstream_gene_variant,,ENST00000505350,;APC,synonymous_variant,p.=,ENST00000508624,;							LOW	267/8532		APC_HUMAN			Transcript			.	ENSP00000257430		CCDS4107.1			1	
PDIA5	0	LGGM	GRCh37	3	122880725	122880725	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	48	6	.	.	ENST00000316218.7:c.1480-2A>T		p.X494_splice	ENST00000316218	NM_006810.3			0	1	1	UPI000013148A	0		ENST00000316218		ENSG00000065485	24811		54			HGNC	-		PDIA5		SNV							ENST00000489923	protein_coding							T		-/1799				C9JY10_HUMAN			YES	PDIA5,splice_acceptor_variant,,ENST00000316218,NM_006810.3;PDIA5,non_coding_transcript_exon_variant,,ENST00000467157,;PDIA5,splice_acceptor_variant,,ENST00000489923,;PDIA5,intron_variant,,ENST00000469649,;							HIGH	1480/1560		PDIA5_HUMAN			Transcript			.	ENSP00000323313		CCDS3020.1			1	
MS4A2	0	LGGM	GRCh37	11	59860899	59860899	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	38	6	.	.	ENST00000278888.3:c.405T>A	p.Thr135=	p.T135=	ENST00000278888	NM_000139.4	135	acT/acA	0	1	1	UPI0000038E6F	0		ENST00000278888		ENSG00000149534	7316		44			HGNC	p.T135T		MS4A2		SNV							ENST00000278888	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF9		T		A		507/1152				E9PLJ1_HUMAN			YES	MS4A2,synonymous_variant,p.=,ENST00000278888,NM_000139.4;MS4A2,downstream_gene_variant,,ENST00000524868,;MS4A2,non_coding_transcript_exon_variant,,ENST00000440896,;							LOW	405/735		FCERB_HUMAN			Transcript			.	ENSP00000278888		CCDS7980.1			1	
MRPL46	0	LGGM	GRCh37	15	89008844	89008844	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	58	6	.	.	ENST00000312475.4:c.389A>T	p.Gln130Leu	p.Q130L	ENST00000312475	NM_022163.3	130	cAg/cTg	0	1	1	UPI00000467E8	0	NA	ENST00000312475		ENSG00000259494	1192		64	2.34		HGNC	p.Q130L		MRPL46		SNV							ENST00000312475	protein_coding	getma.org/?cm=var&var=hg19,15,89008844,T,A&fts=all		Pfam_domain:PF11788,hmmpanther:PTHR13124		Q/L		A	medium	431/1019		getma.org/?cm=msa&ty=f&p=RM46_HUMAN&rb=45&re=141&var=Q130L	deleterious(0.02)				YES	MRPL46,missense_variant,p.Gln130Leu,ENST00000312475,NM_022163.3;MRPS11,upstream_gene_variant,,ENST00000325844,NM_022839.3;MRPS11,upstream_gene_variant,,ENST00000353598,NM_176805.2;RP11-97O12.7,non_coding_transcript_exon_variant,,ENST00000561140,;MRPL46,upstream_gene_variant,,ENST00000559538,;MRPS11,upstream_gene_variant,,ENST00000557974,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558660,;MRPL46,non_coding_transcript_exon_variant,,ENST00000558531,;MRPL46,intron_variant,,ENST00000560703,;MRPS11,upstream_gene_variant,,ENST00000559323,;MRPS11,upstream_gene_variant,,ENST00000560708,;MRPS11,upstream_gene_variant,,ENST00000558406,;MRPS11,upstream_gene_variant,,ENST00000560850,;MRPS11,upstream_gene_variant,,ENST00000559125,;MRPS11,upstream_gene_variant,,ENST00000559557,;							MODERATE	389/840	Q130L	RM46_HUMAN			Transcript		benign(0.222)	.	ENSP00000312311		CCDS10341.1			1	
SMTNL1	0	LGGM	GRCh37	11	57317548	57317548	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	72	6	.	.	ENST00000457912.1:c.1502T>A	p.Leu501His	p.L501H	ENST00000457912		501	cTt/cAt	0	1		UPI00015E0022	0	getma.org/pdb.php?prot=SMTL1_HUMAN&from=344&to=447&var=L446H	ENST00000399154		ENSG00000214872	32394		78	3.105		HGNC	p.L446H		SMTNL1		SNV							ENST00000399154	protein_coding	getma.org/?cm=var&var=hg19,11,57317548,T,A&fts=all		hmmpanther:PTHR25069		L/H		A	medium	1337/1897		getma.org/?cm=msa&ty=f&p=SMTL1_HUMAN&rb=344&re=447&var=L446H	deleterious(0)					SMTNL1,missense_variant,p.Leu501His,ENST00000457912,;SMTNL1,missense_variant,p.Leu446His,ENST00000399154,;SMTNL1,missense_variant,p.Leu483His,ENST00000527972,NM_001105565.2;UBE2L6,downstream_gene_variant,,ENST00000340573,NM_198183.2;UBE2L6,downstream_gene_variant,,ENST00000287156,NM_004223.4;UBE2L6,downstream_gene_variant,,ENST00000527022,;UBE2L6,downstream_gene_variant,,ENST00000526659,;UBE2L6,downstream_gene_variant,,ENST00000528275,;							MODERATE	1337/1374	L446H	SMTL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382108					1	
SACS	0	LGGM	GRCh37	13	23906989	23906989	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	29	6	.	.	ENST00000382298.3:c.11026A>T	p.Thr3676Ser	p.T3676S	ENST00000382298	NM_014363.5	3676	Aca/Tca	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		35	0.46		HGNC	p.T2926S		SACS		SNV			1				ENST00000402364	protein_coding	getma.org/?cm=var&var=hg19,13,23906989,T,A&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		T/S		A	neutral	11300/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=3482&re=3681&var=T3676S						SACS,missense_variant,p.Thr3676Ser,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Thr3676Ser,ENST00000382292,;SACS,missense_variant,p.Thr2926Ser,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							MODERATE	11026/13740	T3676S	SACS_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000371729		CCDS9300.2			1	
PCDH18	0	LGGM	GRCh37	4	138452830	138452830	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	61	6	.	.	ENST00000344876.4:c.413C>T	p.Ser138Leu	p.S138L	ENST00000344876	NM_019035.3	138	tCa/tTa	0	1	1	UPI0000047A88	0	getma.org/pdb.php?prot=PCD18_HUMAN&from=138&to=246&var=S138L	ENST00000344876		ENSG00000189184	14268		67	0.395		HGNC	p.S138L		PCDH18		SNV							ENST00000344876	protein_coding	getma.org/?cm=var&var=hg19,4,138452830,G,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		S/L		A	neutral	800/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=138&re=246&var=S138L	deleterious(0)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Ser138Leu,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Ser138Leu,ENST00000412923,;PCDH18,5_prime_UTR_variant,,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;							MODERATE	413/3408	S138L	PCD18_HUMAN			Transcript		benign(0.184)	.	ENSP00000355082		CCDS34064.1			1	
ZHX3	0	LGGM	GRCh37	20	39833366	39833366	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	35	6	.	.	ENST00000309060.3:c.191T>A	p.Leu64Gln	p.L64Q	ENST00000309060		64	cTg/cAg	0	1	1	UPI000000D72C	0	NA	ENST00000309060		ENSG00000174306	15935		41	1.32		HGNC	p.L64Q		ZHX3		SNV							ENST00000432768	protein_coding	getma.org/?cm=var&var=hg19,20,39833366,A,T&fts=all		hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF6		L/Q		T	low	607/10030		getma.org/?cm=msa&ty=f&p=ZHX3_HUMAN&rb=1&re=200&var=L64Q	deleterious(0.02)	H0YMK8_HUMAN,F6YD28_HUMAN,F6XGA7_HUMAN,F6UQN6_HUMAN,F6UBH9_HUMAN,F6S7L4_HUMAN			YES	ZHX3,missense_variant,p.Leu64Gln,ENST00000309060,;ZHX3,missense_variant,p.Leu64Gln,ENST00000540170,NM_015035.3;ZHX3,missense_variant,p.Leu64Gln,ENST00000559234,;ZHX3,missense_variant,p.Leu64Gln,ENST00000560361,;ZHX3,missense_variant,p.Leu64Gln,ENST00000432768,;ZHX3,missense_variant,p.Leu64Gln,ENST00000544979,;ZHX3,missense_variant,p.Leu64Gln,ENST00000557816,;ZHX3,missense_variant,p.Leu64Gln,ENST00000558993,;ZHX3,missense_variant,p.Leu64Gln,ENST00000436440,;ZHX3,missense_variant,p.Leu64Gln,ENST00000441102,;ZHX3,missense_variant,p.Leu64Gln,ENST00000373261,;ZHX3,upstream_gene_variant,,ENST00000421422,;ZHX3,downstream_gene_variant,,ENST00000436099,;ZHX3,downstream_gene_variant,,ENST00000419740,;ZHX3,upstream_gene_variant,,ENST00000559436,;ZHX3,missense_variant,p.Leu64Gln,ENST00000560364,;							MODERATE	191/2871	L64Q	ZHX3_HUMAN			Transcript		benign(0.235)	.	ENSP00000312222		CCDS13315.1			1	
ALMS1	0	LGGM	GRCh37	2	73679537	73679537	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	38	6	.	.	ENST00000264448.6:c.5880A>C	p.Thr1960=	p.T1960=	ENST00000264448	NM_015120.4	1960	acA/acC	0	1	1	UPI0000212786	0		ENST00000264448		ENSG00000116127	428		44			HGNC	p.T1960T		ALMS1		SNV			1				ENST00000377715	protein_coding			hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23		T		C		5991/12922				A6NMY3_HUMAN			YES	ALMS1,synonymous_variant,p.=,ENST00000264448,NM_015120.4;ALMS1,synonymous_variant,p.=,ENST00000409009,;ALMS1,synonymous_variant,p.=,ENST00000377715,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,synonymous_variant,p.=,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000484298,;							LOW	5880/12504		ALMS1_HUMAN			Transcript			.	ENSP00000264448		CCDS42697.1			1	
CAMSAP2	0	LGGM	GRCh37	1	200819288	200819288	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	70	6	.	.	ENST00000358823.2:c.3391G>T	p.Glu1131Ter	p.E1131*	ENST00000358823	NM_203459.1	1131	Gaa/Taa	0	1		UPI0000160246	0	NA	ENST00000236925		ENSG00000118200	29188		76	0		HGNC	p.E1142X		CAMSAP2		SNV							ENST00000236925	protein_coding	getma.org/?cm=var&var=hg19,1,200819288,G,T&fts=all		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF1		E/*		T	NA	3473/7161		NA		B3KX64_HUMAN				CAMSAP2,stop_gained,p.Glu1131Ter,ENST00000358823,NM_203459.1;CAMSAP2,stop_gained,p.Glu1142Ter,ENST00000236925,;CAMSAP2,stop_gained,p.Glu1115Ter,ENST00000413307,;CAMSAP2,intron_variant,,ENST00000447701,;							HIGH	3424/4470	E1142*	CAMP2_HUMAN			Transcript			.	ENSP00000236925					1	
ZNF808	0	LGGM	GRCh37	19	53058751	53058751	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	83	6	.	.	ENST00000359798.4:c.2582A>T	p.His861Leu	p.H861L	ENST00000359798	NM_001039886.3	861	cAc/cTc	0	1	1	UPI000041AA80	0	getma.org/pdb.php?prot=ZN808_HUMAN&from=861&to=886&var=H861L	ENST00000359798		ENSG00000198482	33230		89	1.07		HGNC	p.H792L		ZNF808		SNV							ENST00000487863	protein_coding	getma.org/?cm=var&var=hg19,19,53058751,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/L		T	low	2762/3600		getma.org/?cm=msa&ty=f&p=ZN808_HUMAN&rb=841&re=903&var=H861L	tolerated(0.6)	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN			YES	ZNF808,missense_variant,p.His861Leu,ENST00000359798,NM_001039886.3;ZNF808,downstream_gene_variant,,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.His792Leu,ENST00000487863,;							MODERATE	2582/2712	H861L	ZN808_HUMAN			Transcript		benign(0.391)	.	ENSP00000352846		CCDS46167.1			1	
NDC1	0	LGGM	GRCh37	1	54291515	54291515	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	29	6	.	.	ENST00000371429.3:c.550T>C	p.Tyr184His	p.Y184H	ENST00000371429	NM_001168551.1	184	Tat/Cat	0	1	1	UPI000006D8F7	0	NA	ENST00000371429		ENSG00000058804	25525		35	1.59		HGNC	p.Y184H		NDC1		SNV							ENST00000540001	protein_coding	getma.org/?cm=var&var=hg19,1,54291515,A,G&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF09531,hmmpanther:PTHR13269:SF6,hmmpanther:PTHR13269		Y/H		G	low	1149/5134		getma.org/?cm=msa&ty=f&p=NDC1_HUMAN&rb=18&re=667&var=Y184H	tolerated(0.15)	G3XA81_HUMAN,B4DZG6_HUMAN			YES	NDC1,missense_variant,p.Tyr184His,ENST00000371429,NM_001168551.1,NM_018087.4;NDC1,missense_variant,p.Tyr184His,ENST00000540001,;NDC1,missense_variant,p.Tyr69His,ENST00000234725,;NDC1,5_prime_UTR_variant,,ENST00000537333,;AL049745.1,upstream_gene_variant,,ENST00000578163,;NDC1,non_coding_transcript_exon_variant,,ENST00000480952,;							MODERATE	550/2025	Y184H	NDC1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000360483		CCDS583.1			1	
GPR151	0	LGGM	GRCh37	5	145895260	145895260	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	92	6	.	.	ENST00000311104.2:c.417T>C	p.Tyr139=	p.Y139=	ENST00000311104	NM_194251.2	139	taT/taC	0	1	1	UPI000003BCC7	0		ENST00000311104		ENSG00000173250	23624		98			HGNC	p.Y139Y	rs768441360	GPR151	6.06E-05	SNV							ENST00000311104	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24237,hmmpanther:PTHR24237:SF1,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y		G		494/3088	1.50E-05						YES	GPR151,synonymous_variant,p.=,ENST00000311104,NM_194251.2;TCERG1,downstream_gene_variant,,ENST00000296702,NM_006706.3;TCERG1,downstream_gene_variant,,ENST00000394421,NM_001040006.1;TCERG1,downstream_gene_variant,,ENST00000506524,;TCERG1,downstream_gene_variant,,ENST00000549332,;TCERG1,downstream_gene_variant,,ENST00000511077,;							LOW	417/1260		GP151_HUMAN			Transcript			.	ENSP00000308733	1.65E-05	CCDS34266.1			1	
KRTAP5-1	0	LGGM	GRCh37	11	1605877	1605877	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	47	6	.	.	ENST00000382171.2:c.603T>A	p.Cys201Ter	p.C201*	ENST00000382171	NM_001005922.1	201	tgT/tgA	0	1	1	UPI000037605D	0	NA	ENST00000382171		ENSG00000205869	23596		53	0		HGNC	p.C201X		KRTAP5-1		SNV							ENST00000382171	protein_coding	getma.org/?cm=var&var=hg19,11,1605877,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23262:SF47,hmmpanther:PTHR23262		C/*		T	NA	637/942		NA					YES	KRTAP5-1,stop_gained,p.Cys201Ter,ENST00000382171,NM_001005922.1;KRTAP5-AS1,intron_variant,,ENST00000424148,;KRTAP5-AS1,intron_variant,,ENST00000524947,;KRTAP5-AS1,intron_variant,,ENST00000532922,;KRTAP5-AS1,intron_variant,,ENST00000534077,;							HIGH	603/837	C201*	KRA51_HUMAN			Transcript			.	ENSP00000371606		CCDS31330.1			1	
ZNF800	0	LGGM	GRCh37	7	127014426	127014426	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	30	6	.	.	ENST00000393313.1:c.964A>G	p.Ile322Val	p.I322V	ENST00000393313		322	Ata/Gta	0	1		UPI000020FA03	0	NA	ENST00000265827		ENSG00000048405	27267		36	0.205		HGNC	p.I322V	rs767810628	ZNF800		SNV							ENST00000393313	protein_coding	getma.org/?cm=var&var=hg19,7,127014426,T,C&fts=all		hmmpanther:PTHR21020		I/V		C	neutral	1657/4203		getma.org/?cm=msa&ty=f&p=ZN800_HUMAN&rb=311&re=358&var=I322V	tolerated(0.39)	C9K0M9_HUMAN,C9JLY3_HUMAN,C9JHX9_HUMAN				ZNF800,missense_variant,p.Ile322Val,ENST00000393313,;ZNF800,missense_variant,p.Ile322Val,ENST00000265827,NM_176814.3;ZNF800,missense_variant,p.Ile322Val,ENST00000393312,;ZNF800,downstream_gene_variant,,ENST00000434602,;ZNF800,downstream_gene_variant,,ENST00000436992,;ZNF800,downstream_gene_variant,,ENST00000439506,;ZNF800,upstream_gene_variant,,ENST00000485577,;	0.000231						MODERATE	964/1995	I322V	ZN800_HUMAN			Transcript		benign(0.001)	.	ENSP00000265827	1.65E-05	CCDS5795.1			1	
ZNRF4	0	LGGM	GRCh37	19	5456088	5456088	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	45	6	.	.	ENST00000222033.4:c.586A>T	p.Met196Leu	p.M196L	ENST00000222033	NM_181710.3	196	Atg/Ttg	0	1	1	UPI0000366CF5	0	NA	ENST00000222033		ENSG00000105428	17726		51	2.595		HGNC	p.M196L		ZNRF4		SNV							ENST00000222033	protein_coding	getma.org/?cm=var&var=hg19,19,5456088,A,T&fts=all		Gene3D:3.50.30.30,Pfam_domain:PF02225,hmmpanther:PTHR22765,hmmpanther:PTHR22765:SF34,Superfamily_domains:SSF52025		M/L		T	medium	663/1442		getma.org/?cm=msa&ty=f&p=ZNRF4_HUMAN&rb=150&re=223&var=M196L	deleterious(0.01)				YES	ZNRF4,missense_variant,p.Met196Leu,ENST00000222033,NM_181710.3;							MODERATE	586/1290	M196L	ZNRF4_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000222033		CCDS42475.1			1	
PPFIA3	0	LGGM	GRCh37	19	49652814	49652814	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	27	6	.	.	ENST00000334186.4:c.3365A>T	p.Lys1122Met	p.K1122M	ENST00000334186	NM_003660.3	1122	aAg/aTg	0	1	1	UPI00001AE464	0	NA	ENST00000334186		ENSG00000177380	9247		33	2.14		HGNC	p.K1122M		PPFIA3		SNV							ENST00000334186	protein_coding	getma.org/?cm=var&var=hg19,19,49652814,A,T&fts=all		hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4		K/M		T	medium	3714/4733		getma.org/?cm=msa&ty=f&p=LIPA3_HUMAN&rb=1109&re=1194&var=K1122M	deleterious(0)	R4GNF1_HUMAN			YES	PPFIA3,missense_variant,p.Lys1122Met,ENST00000334186,NM_003660.3;PPFIA3,missense_variant,p.Lys1113Met,ENST00000602351,;PPFIA3,missense_variant,p.Lys205Met,ENST00000602848,;PPFIA3,missense_variant,p.Lys171Met,ENST00000602897,;HRC,downstream_gene_variant,,ENST00000252825,NM_002152.2;HRC,downstream_gene_variant,,ENST00000595625,;HRC,downstream_gene_variant,,ENST00000598858,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000602905,;PPFIA3,upstream_gene_variant,,ENST00000602783,;PPFIA3,downstream_gene_variant,,ENST00000602800,;HRC,downstream_gene_variant,,ENST00000595167,;							MODERATE	3365/3585	K1122M	LIPA3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000335614		CCDS12758.1			1	
CLPX	0	LGGM	GRCh37	15	65448098	65448098	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	61	6	.	.	ENST00000300107.3:c.1243A>T	p.Ile415Phe	p.I415F	ENST00000300107	NM_006660.3	415	Atc/Ttc	0	1	1	UPI0000127B73	0	getma.org/pdb.php?prot=CLPX_HUMAN&from=284&to=503&var=I415F	ENST00000300107		ENSG00000166855	2088		67	4.255		HGNC	p.I415F		CLPX		SNV							ENST00000300107	protein_coding	getma.org/?cm=var&var=hg19,15,65448098,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF07724,hmmpanther:PTHR11262,hmmpanther:PTHR11262:SF4,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00382		I/F		A	high	1432/4695		getma.org/?cm=msa&ty=f&p=CLPX_HUMAN&rb=284&re=503&var=I415F	deleterious(0)	H0YK07_HUMAN			YES	CLPX,missense_variant,p.Ile415Phe,ENST00000300107,NM_006660.3;CLPX,3_prime_UTR_variant,,ENST00000559152,;CLPX,non_coding_transcript_exon_variant,,ENST00000560166,;CLPX,downstream_gene_variant,,ENST00000558958,;CLPX,downstream_gene_variant,,ENST00000558103,;							MODERATE	1243/1902	I415F	CLPX_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000300107		CCDS10202.1			1	
LRP1B	0	LGGM	GRCh37	2	141458165	141458165	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	50	6	.	.	ENST00000389484.3:c.6453T>C	p.Asn2151=	p.N2151=	ENST00000389484	NM_018557.2	2151	aaT/aaC	0	1	1	UPI00001B045B	0		ENST00000389484		ENSG00000168702	6693		56			HGNC	p.N2151N	rs762463457	LRP1B	6.06E-05	SNV							ENST00000389484	protein_coding			Gene3D:2.10.25.10,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00181,Superfamily_domains:SSF57196		N		G		7425/16535				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			YES	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;							LOW	6453/13800		LRP1B_HUMAN			Transcript			.	ENSP00000374135	8.24E-06	CCDS2182.1			1	
DDI1	0	LGGM	GRCh37	11	103908551	103908551	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	46	6	.	.	ENST00000302259.3:c.1001T>A	p.Met334Lys	p.M334K	ENST00000302259	NM_001001711.2	334	aTg/aAg	0	1	1	UPI0000047AEA	0	getma.org/pdb.php?prot=DDI1_HUMAN&from=220&to=343&var=M334K	ENST00000302259		ENSG00000170967	18961		52	3.23		HGNC	p.M334K		DDI1		SNV							ENST00000302259	protein_coding	getma.org/?cm=var&var=hg19,11,103908551,T,A&fts=all		Gene3D:2.40.70.10,Pfam_domain:PF09668,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Low_complexity_(Seg):seg,Superfamily_domains:SSF50630		M/K		A	medium	1244/2615		getma.org/?cm=msa&ty=f&p=DDI1_HUMAN&rb=220&re=343&var=M334K	deleterious(0)				YES	DDI1,missense_variant,p.Met334Lys,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;							MODERATE	1001/1191	M334K	DDI1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000302805		CCDS31660.1			1	
TBC1D1	0	LGGM	GRCh37	4	38016266	38016266	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	27	6	.	.	ENST00000261439.4:c.554A>T	p.His185Leu	p.H185L	ENST00000261439	NM_015173.3	185	cAc/cTc	0	1	1	UPI0000367235	0	NA	ENST00000261439		ENSG00000065882	11578		33	1.7		HGNC	p.H185L		TBC1D1		SNV							ENST00000508802	protein_coding	getma.org/?cm=var&var=hg19,4,38016266,A,T&fts=all		Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729		H/L		T	low	909/5700		getma.org/?cm=msa&ty=f&p=TBCD1_HUMAN&rb=1&re=200&var=H185L	deleterious(0)	H0Y8P0_HUMAN,Q8NC59_HUMAN,Q7Z6H2_HUMAN,Q6PJJ8_HUMAN,B9A6J6_HUMAN,A0JNU9_HUMAN			YES	TBC1D1,missense_variant,p.His185Leu,ENST00000261439,NM_015173.3,NM_001253914.1,NM_001253915.1;TBC1D1,missense_variant,p.His185Leu,ENST00000508802,NM_001253912.1;TBC1D1,missense_variant,p.His56Leu,ENST00000446803,;TBC1D1,intron_variant,,ENST00000510573,;TBC1D1,upstream_gene_variant,,ENST00000491553,;							MODERATE	554/3507	H185L	TBCD1_HUMAN			Transcript		possibly_damaging(0.48)	.	ENSP00000261439		CCDS33972.1			1	
NLGN1	0	LGGM	GRCh37	3	173322539	173322539	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	62	6	.	.	ENST00000457714.1:c.151G>A	p.Val51Met	p.V51M	ENST00000457714	NM_014932.3	51	Gtg/Atg	0	1	1	UPI0000072F54	0	getma.org/pdb.php?prot=NLGN1_HUMAN&from=29&to=623&var=V51M	ENST00000457714		ENSG00000169760	14291		68	0.12		HGNC	p.V51M		NLGN1		SNV							ENST00000361589	protein_coding	getma.org/?cm=var&var=hg19,3,173322539,G,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF52		V/M		A	neutral	580/8242		getma.org/?cm=msa&ty=f&p=NLGN1_HUMAN&rb=29&re=623&var=V51M	tolerated(0.22)				YES	NLGN1,missense_variant,p.Val51Met,ENST00000457714,NM_014932.3;NLGN1,missense_variant,p.Val51Met,ENST00000361589,;NLGN1,missense_variant,p.Val51Met,ENST00000545397,;NLGN1,missense_variant,p.Val51Met,ENST00000401917,;NLGN1,missense_variant,p.Val51Met,ENST00000415045,;NLGN1,downstream_gene_variant,,ENST00000423427,;NLGN1,downstream_gene_variant,,ENST00000413821,;							MODERATE	151/2472	V51M	NLGN1_HUMAN			Transcript		benign(0.037)	.	ENSP00000392500		CCDS3222.1			1	
MYOF	0	LGGM	GRCh37	10	95101703	95101703	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	52	6	.	.	ENST00000359263.4:c.4327-1782A>T		*1443*	ENST00000359263	NM_013451.3			0	1	1	UPI000012FBA1	0		ENST00000359263		ENSG00000138119	3656		58			HGNC	p.A1450A		MYOF		SNV							ENST00000371502	protein_coding							A		-/6719							YES	MYOF,synonymous_variant,p.=,ENST00000371502,;MYOF,intron_variant,,ENST00000371501,;MYOF,intron_variant,,ENST00000359263,NM_013451.3;MYOF,intron_variant,,ENST00000358334,NM_133337.2;MYOF,upstream_gene_variant,,ENST00000475358,;MYOF,synonymous_variant,p.=,ENST00000463743,;							MODIFIER	-/6186		MYOF_HUMAN			Transcript			.	ENSP00000352208		CCDS41551.1			1	
RYR2	0	LGGM	GRCh37	1	237955404	237955404	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	113	7	.	.	ENST00000366574.2:c.13564-1G>T		p.X4522_splice	ENST00000366574	NM_001035.2			0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		120			HGNC	-		RYR2		SNV			1				ENST00000366574	protein_coding							T		-/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,splice_acceptor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_acceptor_variant,,ENST00000542537,;RYR2,splice_acceptor_variant,,ENST00000360064,;RYR2,splice_acceptor_variant,,ENST00000608590,;							HIGH	13564/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
TENM3	0	LGGM	GRCh37	4	183594176	183594176	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	20	7	.	.	ENST00000511685.1:c.1130C>T	p.Thr377Met	p.T377M	ENST00000511685		377	aCg/aTg	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		27	0		HGNC	p.T377M	rs761249047	TENM3		SNV			1				ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183594176,C,T&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10		T/M		T	neutral	1253/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=309&re=508&var=T377M	tolerated(0.17)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Thr377Met,ENST00000511685,;TENM3,missense_variant,p.Thr377Met,ENST00000406950,NM_001080477.1;							MODERATE	1130/8100	T377M	TEN3_HUMAN			Transcript		benign(0.013)	.	ENSP00000424226	8.30E-06	CCDS47165.1			1	
MUC16	0	LGGM	GRCh37	19	9019614	9019614	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	58	7	.	.	ENST00000397910.4:c.37532T>A	p.Val12511Glu	p.V12511E	ENST00000397910	NM_024690.2	12511	gTg/gAg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		65	1.6		HGNC	p.V12511E		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9019614,A,T&fts=all		hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,Low_complexity_(Seg):seg,SMART_domains:SM00200		V/E		T	low	37736/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=12501&re=12542&var=V12513E		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Val12511Glu,ENST00000397910,NM_024690.2;							MODERATE	37532/43524	V12513E				Transcript		benign(0.283)	.	ENSP00000381008		CCDS54212.1			1	
C20orf26	0	LGGM	GRCh37	20	20168589	20168589	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	45	7	.	.	ENST00000245957.5:c.1401A>T	p.Arg467Ser	p.R467S	ENST00000245957	NM_015585.3	467	agA/agT	0	1	1	UPI0000206AE4	0	NA	ENST00000245957		ENSG00000089101	15872		52	2.465		HGNC	p.R467S		C20orf26		SNV							ENST00000245957	protein_coding	getma.org/?cm=var&var=hg19,20,20168589,A,T&fts=all		hmmpanther:PTHR21178:SF8,hmmpanther:PTHR21178		R/S		T	medium	1477/4082		getma.org/?cm=msa&ty=f&p=CT026_HUMAN&rb=1&re=1234&var=R467S	deleterious(0.01)	C9JMV0_HUMAN,C9JHE8_HUMAN,C9J610_HUMAN			YES	C20orf26,missense_variant,p.Arg467Ser,ENST00000245957,NM_015585.3;C20orf26,missense_variant,p.Arg33Ser,ENST00000431753,;C20orf26,5_prime_UTR_variant,,ENST00000377309,;C20orf26,5_prime_UTR_variant,,ENST00000389656,;C20orf26,non_coding_transcript_exon_variant,,ENST00000471716,;							MODERATE	1401/3714	R467S	CT026_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000245957		CCDS33447.1			1	
NUFIP2	0	LGGM	GRCh37	17	27613583	27613583	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	50	7	.	.	ENST00000225388.4:c.1429A>T	p.Asn477Tyr	p.N477Y	ENST00000225388	NM_020772.2	477	Aat/Tat	0	1	1	UPI00001B078D	0	NA	ENST00000225388		ENSG00000108256	17634		57	1.04		HGNC	p.N477Y		NUFIP2		SNV							ENST00000225388	protein_coding	getma.org/?cm=var&var=hg19,17,27613583,T,A&fts=all		Pfam_domain:PF15293		N/Y		A	low	1488/10850		getma.org/?cm=msa&ty=f&p=NUFP2_HUMAN&rb=1&re=693&var=N477Y	deleterious(0)	A1L3A7_HUMAN			YES	NUFIP2,missense_variant,p.Asn477Tyr,ENST00000225388,NM_020772.2;NUFIP2,intron_variant,,ENST00000579665,;							MODERATE	1429/2088	N477Y	NUFP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000225388		CCDS32600.1			1	
LTBP2	0	LGGM	GRCh37	14	74971710	74971710	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	33	7	.	.	ENST00000261978.4:c.4345G>A	p.Asp1449Asn	p.D1449N	ENST00000261978	NM_000428.2	1449	Gac/Aac	0	1	1	UPI000013D239	0	getma.org/pdb.php?prot=LTBP2_HUMAN&from=1421&to=1462&var=D1449N	ENST00000261978		ENSG00000119681	6715		40	1.43		HGNC	p.D1405N		LTBP2		SNV			1				ENST00000556690	protein_coding	getma.org/?cm=var&var=hg19,14,74971710,C,T&fts=all		Gene3D:3.90.290.10,Pfam_domain:PF00683,PROSITE_profiles:PS51364,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF40,Superfamily_domains:SSF57581		D/N		T	low	4732/8567		getma.org/?cm=msa&ty=f&p=LTBP2_HUMAN&rb=1421&re=1462&var=D1449N	deleterious(0.01)	G3V254_HUMAN			YES	LTBP2,missense_variant,p.Asp1449Asn,ENST00000261978,NM_000428.2;LTBP2,missense_variant,p.Asp1405Asn,ENST00000556690,;LTBP2,downstream_gene_variant,,ENST00000556206,;LTBP2,missense_variant,p.Asp1449Asn,ENST00000553939,;LTBP2,upstream_gene_variant,,ENST00000554861,;							MODERATE	4345/5466	D1449N	LTBP2_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000261978		CCDS9831.1			1	
ZNF492	0	LGGM	GRCh37	19	22846731	22846731	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	22	7	.	.	ENST00000456783.2:c.260G>T	p.Ser87Ile	p.S87I	ENST00000456783	NM_020855.2	87	aGc/aTc	0	1	1	UPI00001C200B	0	NA	ENST00000456783		ENSG00000229676	23707		29	2.915		HGNC	p.S87I		ZNF492		SNV							ENST00000456783	protein_coding	getma.org/?cm=var&var=hg19,19,22846731,G,T&fts=all		hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384		S/I		T	medium	504/4245		getma.org/?cm=msa&ty=f&p=ZN492_HUMAN&rb=42&re=126&var=S87I	deleterious(0.03)				YES	ZNF492,missense_variant,p.Ser87Ile,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;							MODERATE	260/1596	S87I	ZN492_HUMAN			Transcript		possibly_damaging(0.766)	.	ENSP00000413660		CCDS46032.1			1	
PDZD2	0	LGGM	GRCh37	5	32087372	32087372	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	59	7	.	.	ENST00000438447.1:c.3818T>A	p.Val1273Asp	p.V1273D	ENST00000438447		1273	gTc/gAc	0	1	1	UPI000069648B	0	NA	ENST00000438447		ENSG00000133401	18486		66	1.39		HGNC	p.V1273D		PDZD2		SNV							ENST00000438447	protein_coding	getma.org/?cm=var&var=hg19,5,32087372,T,A&fts=all		hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324		V/D		A	low	4206/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=1225&re=2328&var=V1273D	deleterious(0.04)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Val1273Asp,ENST00000438447,;PDZD2,missense_variant,p.Val1273Asp,ENST00000282493,NM_178140.2;PDZD2,downstream_gene_variant,,ENST00000503961,;							MODERATE	3818/8520	V1273D	PDZD2_HUMAN			Transcript		benign(0.209)	.	ENSP00000402033		CCDS34137.1			1	
CDKL4	0	LGGM	GRCh37	2	39406450	39406450	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	42	7	.	.	ENST00000378803.1:c.805A>T	p.Met269Leu	p.M269L	ENST00000378803	NM_001009565.1	269	Atg/Ttg	0	1		UPI000067C9FA	0	getma.org/pdb.php?prot=CDKL4_HUMAN&from=4&to=286&var=M269L	ENST00000395035		ENSG00000205111	19287		49	-0.28		HGNC	p.M269L		CDKL4		SNV							ENST00000395035	protein_coding	getma.org/?cm=var&var=hg19,2,39406450,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF120,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/L		A	neutral	805/1140		getma.org/?cm=msa&ty=f&p=CDKL4_HUMAN&rb=4&re=286&var=M269L	tolerated(0.16)	Q2NME9_HUMAN				CDKL4,missense_variant,p.Met269Leu,ENST00000378803,NM_001009565.1;CDKL4,missense_variant,p.Met269Leu,ENST00000395035,;CDKL4,missense_variant,p.Met51Leu,ENST00000451199,;							MODERATE	805/1140	M269L				Transcript		benign(0.09)	.	ENSP00000378476					1	
DOCK9	0	LGGM	GRCh37	13	99538077	99538077	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	95	7	.	.	ENST00000376460.1:c.2145A>T	p.Ile715=	p.I715=	ENST00000376460	NM_015296.2	715	atA/atT	0	1	1	UPI000046FD7F	0		ENST00000376460		ENSG00000088387	14132		102			HGNC	p.I715I		DOCK9		SNV							ENST00000376460	protein_coding			Pfam_domain:PF14429,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF77,PROSITE_profiles:PS51650		I		A		2226/7549							YES	DOCK9,synonymous_variant,p.=,ENST00000376460,NM_015296.2,NM_001130048.1;DOCK9,synonymous_variant,p.=,ENST00000339416,;DOCK9,synonymous_variant,p.=,ENST00000448493,;DOCK9,synonymous_variant,p.=,ENST00000442173,NM_001130049.1,NM_001130050.1;DOCK9,downstream_gene_variant,,ENST00000473165,;							LOW	2145/6207		DOCK9_HUMAN			Transcript			.	ENSP00000365643		CCDS45062.1			1	
VCAN	0	LGGM	GRCh37	5	82818090	82818090	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	61	7	.	.	ENST00000265077.3:c.3965T>A	p.Ile1322Asn	p.I1322N	ENST00000265077	NM_004385.4	1322	aTt/aAt	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		68	2.135		HGNC	p.I1274N		VCAN		SNV			1				ENST00000512590	protein_coding	getma.org/?cm=var&var=hg19,5,82818090,T,A&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		I/N		A	medium	4530/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=441&re=2065&var=I1322N	deleterious(0)				YES	VCAN,missense_variant,p.Ile1322Asn,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Ile1322Asn,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Ile1274Asn,ENST00000512590,;VCAN,intron_variant,,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,intron_variant,,ENST00000513960,;VCAN,intron_variant,,ENST00000502527,;VCAN,intron_variant,,ENST00000515397,;							MODERATE	3965/10191	I1322N	CSPG2_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000265077		CCDS4060.1			1	
P2RY10	0	LGGM	GRCh37	X	78216342	78216342	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	38	7	.	.	ENST00000171757.2:c.325T>A	p.Cys109Ser	p.C109S	ENST00000171757	NM_014499.2	109	Tgc/Agc	0	1	1	UPI0000050471	0	getma.org/pdb.php?prot=P2Y10_HUMAN&from=51&to=305&var=C109S	ENST00000171757		ENSG00000078589	19906		45	1.025		HGNC	p.C109S		P2RY10		SNV							ENST00000544091	protein_coding	getma.org/?cm=var&var=hg19,X,78216342,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01157,PROSITE_profiles:PS50262,hmmpanther:PTHR24232,hmmpanther:PTHR24232:SF6,Superfamily_domains:SSF81321		C/S		A	low	605/1714		getma.org/?cm=msa&ty=f&p=P2Y10_HUMAN&rb=51&re=305&var=C109S	deleterious(0.04)				YES	P2RY10,missense_variant,p.Cys109Ser,ENST00000171757,NM_014499.2;P2RY10,missense_variant,p.Cys109Ser,ENST00000544091,NM_198333.1;P2RY10,non_coding_transcript_exon_variant,,ENST00000475374,;P2RY10,non_coding_transcript_exon_variant,,ENST00000461541,;							MODERATE	325/1020	C109S	P2Y10_HUMAN			Transcript		possibly_damaging(0.673)	.	ENSP00000171757		CCDS14442.1			1	
ADCY6	0	LGGM	GRCh37	12	49169172	49169172	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	32	7	.	.	ENST00000307885.4:c.1894A>G	p.Ile632Val	p.I632V	ENST00000307885	NM_015270.3	632	Atc/Gtc	0	1	1	UPI000003EC29	0	NA	ENST00000307885		ENSG00000174233	237		39	2.455		HGNC	p.I632V		ADCY6		SNV			1				ENST00000550422	protein_coding	getma.org/?cm=var&var=hg19,12,49169172,T,C&fts=all		Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263		I/V		C	medium	2589/6464	3.00E-05	getma.org/?cm=msa&ty=f&p=ADCY6_HUMAN&rb=578&re=669&var=I632V	deleterious(0)	Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,missense_variant,p.Ile632Val,ENST00000307885,NM_015270.3;ADCY6,missense_variant,p.Ile632Val,ENST00000357869,;ADCY6,missense_variant,p.Ile632Val,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,;	0.000347						MODERATE	1894/3507	I632V	ADCY6_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000311405	4.12E-05	CCDS8767.1			1	
FAM172A	0	LGGM	GRCh37	5	93120125	93120125	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	50	7	.	.	ENST00000395965.3:c.987A>T	p.Gln329His	p.Q329H	ENST00000395965	NM_032042.5	329	caA/caT	0	1	1	UPI000006DF3B	0	NA	ENST00000395965		ENSG00000113391	25365		57	1.59		HGNC	p.Q182H		FAM172A		SNV							ENST00000509739	protein_coding	getma.org/?cm=var&var=hg19,5,93120125,T,A&fts=all		hmmpanther:PTHR21357,hmmpanther:PTHR21357:SF3,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		Q/H		A	low	1130/4312		getma.org/?cm=msa&ty=f&p=F172A_HUMAN&rb=230&re=416&var=Q329H	deleterious(0)				YES	FAM172A,missense_variant,p.Gln329His,ENST00000395965,NM_032042.5;FAM172A,missense_variant,p.Gln219His,ENST00000505869,NM_001163418.1;FAM172A,missense_variant,p.Gln283His,ENST00000509163,NM_001163417.1;FAM172A,missense_variant,p.Gln182His,ENST00000509739,;FAM172A,missense_variant,p.Gln246His,ENST00000502503,;FAM172A,non_coding_transcript_exon_variant,,ENST00000510445,;FAM172A,non_coding_transcript_exon_variant,,ENST00000511139,;							MODERATE	987/1251	Q329H	F172A_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000379294		CCDS4069.1			1	
EFCAB8	0	LGGM	GRCh37	20	31455473	31455473	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	49	7	.	.	ENST00000400522.4:c.128A>T	p.Gln43Leu	p.Q43L	ENST00000400522		43	cAg/cTg	0	1	1	UPI0002466C6B	0	NA	ENST00000400522		ENSG00000215529	34532		56	0.805		HGNC	p.Q43L		EFCAB8		SNV							ENST00000400522	protein_coding	getma.org/?cm=var&var=hg19,20,31455473,A,T&fts=all		Superfamily_domains:SSF47473		Q/L		T	low	222/1281		getma.org/?cm=msa&ty=f&p=EFCB8_HUMAN&rb=1&re=63&var=Q43L					YES	EFCAB8,missense_variant,p.Gln43Leu,ENST00000400522,;							MODERATE	128/1187	Q43L	EFCB8_HUMAN			Transcript			.	ENSP00000383366					1	
FAM193A	0	LGGM	GRCh37	4	2695460	2695460	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	55	7	.	.	ENST00000324666.5:c.2078A>G	p.His693Arg	p.H693R	ENST00000324666	NM_001256666.1	693	cAc/cGc	0	1	1	UPI0000551BCA	0	NA	ENST00000324666		ENSG00000125386	16822		62	1.67		HGNC	p.H693R		FAM193A		SNV							ENST00000324666	protein_coding	getma.org/?cm=var&var=hg19,4,2695460,A,G&fts=all		hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109		H/R		G	low	2429/4846		getma.org/?cm=msa&ty=f&p=F193A_HUMAN&rb=1&re=883&var=H693R	deleterious(0)	E7EUR8_HUMAN,D6R990_HUMAN			YES	FAM193A,missense_variant,p.His693Arg,ENST00000324666,NM_001256666.1;FAM193A,missense_variant,p.His693Arg,ENST00000382839,NM_003704.3,NM_001256667.1,NM_001256668.1;FAM193A,missense_variant,p.His693Arg,ENST00000505311,;FAM193A,missense_variant,p.His715Arg,ENST00000502458,;FAM193A,missense_variant,p.His693Arg,ENST00000545951,;FAM193A,missense_variant,p.His547Arg,ENST00000513350,;FAM193A,missense_variant,p.His693Arg,ENST00000512465,;FAM193A,missense_variant,p.His693Arg,ENST00000513898,;FAM193A,upstream_gene_variant,,ENST00000506120,;							MODERATE	2078/3798	H693R	F193A_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000324587		CCDS58875.1			1	
CATSPERG	0	LGGM	GRCh37	19	38858759	38858759	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	47	7	.	.	ENST00000409235.3:c.3002A>T	p.His1001Leu	p.H1001L	ENST00000409235	NM_021185.4	1001	cAc/cTc	0	1	1	UPI000022A813	0	NA	ENST00000409235		ENSG00000099338	25243		54	1.04		HGNC	p.H961L	COSM3533335,COSM3533334	CATSPERG		SNV						1,1	ENST00000410018	protein_coding	getma.org/?cm=var&var=hg19,19,38858759,A,T&fts=all		hmmpanther:PTHR14327		H/L		T	low	3117/3746		getma.org/?cm=msa&ty=f&p=CTSRG_HUMAN&rb=930&re=1157&var=H1001L	tolerated(0.37)	Q32MQ2_HUMAN			YES	CATSPERG,missense_variant,p.His1001Leu,ENST00000409235,NM_021185.4;CATSPERG,missense_variant,p.His961Leu,ENST00000410018,;CATSPERG,3_prime_UTR_variant,,ENST00000215069,;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,;					1,1		MODERATE	3002/3480	H1001L	CTSRG_HUMAN			Transcript		benign(0.402)	.	ENSP00000386962		CCDS12514.2			1	
KRT3	0	LGGM	GRCh37	12	53189757	53189757	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	53	7	.	.	ENST00000417996.2:c.70T>A	p.Ser24Thr	p.S24T	ENST00000417996	NM_057088.2	24	Tcc/Acc	0	1	1	UPI000013EEC8	0	NA	ENST00000417996		ENSG00000186442	6440		60	2.31		HGNC	p.S24T		KRT3		SNV			1				ENST00000309505	protein_coding	getma.org/?cm=var&var=hg19,12,53189757,A,T&fts=all		Low_complexity_(Seg):seg		S/T		T	medium	145/2319		getma.org/?cm=msa&ty=f&p=K2C3_HUMAN&rb=1&re=196&var=S24T	tolerated(0.33)				YES	KRT3,missense_variant,p.Ser24Thr,ENST00000417996,NM_057088.2;KRT3,missense_variant,p.Ser24Thr,ENST00000309505,;							MODERATE	70/1887	S24T	K2C3_HUMAN			Transcript		unknown(0)	.	ENSP00000413479		CCDS44895.1			1	
ZNF226	0	LGGM	GRCh37	19	44680739	44680739	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	59	7	.	.	ENST00000590089.1:c.1324A>T	p.Thr442Ser	p.T442S	ENST00000590089		442	Aca/Tca	0	1		UPI000013C32A	0	getma.org/pdb.php?prot=ZN226_HUMAN&from=433&to=458&var=T442S	ENST00000337433		ENSG00000167380	13019		66	0.69		HGNC	p.T442S		ZNF226		SNV							ENST00000337433	protein_coding	getma.org/?cm=var&var=hg19,19,44680739,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF177,Superfamily_domains:SSF57667		T/S		T	neutral	1468/2565		getma.org/?cm=msa&ty=f&p=ZN226_HUMAN&rb=413&re=478&var=T442S	deleterious(0.01)	Q9NR94_HUMAN,K7ESM6_HUMAN,K7ERY1_HUMAN,K7EQC3_HUMAN,K7EPU4_HUMAN,K7ELM4_HUMAN,K7ELA3_HUMAN,K7EL77_HUMAN,K7EKQ6_HUMAN,K7EJ66_HUMAN				ZNF226,missense_variant,p.Thr442Ser,ENST00000590089,;ZNF226,missense_variant,p.Thr442Ser,ENST00000454662,NM_001032372.1;ZNF226,missense_variant,p.Thr442Ser,ENST00000337433,NM_001032373.1;ZNF226,3_prime_UTR_variant,,ENST00000588883,;ZNF226,downstream_gene_variant,,ENST00000300823,NM_015919.3,NM_001146220.2;ZNF226,downstream_gene_variant,,ENST00000413984,NM_001032374.1;ZNF226,downstream_gene_variant,,ENST00000589160,;ZNF226,downstream_gene_variant,,ENST00000588795,;ZNF226,downstream_gene_variant,,ENST00000590524,;ZNF226,downstream_gene_variant,,ENST00000585678,;ZNF226,downstream_gene_variant,,ENST00000586914,;ZNF226,downstream_gene_variant,,ENST00000588127,;ZNF226,downstream_gene_variant,,ENST00000586203,;ZNF226,downstream_gene_variant,,ENST00000590578,;ZNF226,downstream_gene_variant,,ENST00000590467,;ZNF226,downstream_gene_variant,,ENST00000586286,;ZNF226,downstream_gene_variant,,ENST00000585560,;ZNF226,downstream_gene_variant,,ENST00000588742,;ZNF226,downstream_gene_variant,,ENST00000590759,;							MODERATE	1324/2412	T442S	ZN226_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000336719		CCDS46102.1			1	
ADAMTS14	0	LGGM	GRCh37	10	72511232	72511232	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	33	8	.	.	ENST00000373208.1:c.2437-2A>T		p.X813_splice	ENST00000373208	NM_139155.2			0	1		UPI0000049F22	0		ENST00000373207		ENSG00000138316	14899		41			HGNC	-		ADAMTS14		SNV							ENST00000373207	protein_coding							T		-/5260								ADAMTS14,splice_acceptor_variant,,ENST00000373208,NM_139155.2;ADAMTS14,splice_acceptor_variant,,ENST00000373207,NM_080722.3;							HIGH	2428/3672		ATS14_HUMAN			Transcript			.	ENSP00000362303		CCDS7306.1			1	
SLC22A2	0	LGGM	GRCh37	6	160671673	160671673	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	36	8	.	.	ENST00000366953.3:c.580A>G	p.Met194Val	p.M194V	ENST00000366953	NM_003058.3	194	Atg/Gtg	0	1	1	UPI000013D5BB	0	NA	ENST00000366953		ENSG00000112499	10966		44	0.765		HGNC	p.M194V	rs376744152	SLC22A2		SNV	C:0						ENST00000366953	protein_coding	getma.org/?cm=var&var=hg19,6,160671673,T,C&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF173,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00898,Transmembrane_helices:TMhelix		M/V	C:0.0001	C	neutral	839/2597	3.00E-05	getma.org/?cm=msa&ty=f&p=S22A2_HUMAN&rb=60&re=529&var=M194V	tolerated(1)	Q5T7Q5_HUMAN			YES	SLC22A2,missense_variant,p.Met173Val,ENST00000366952,;SLC22A2,missense_variant,p.Met194Val,ENST00000366953,NM_003058.3;SLC22A2,non_coding_transcript_exon_variant,,ENST00000491092,;							MODERATE	580/1668	M194V	S22A2_HUMAN			Transcript		benign(0.02)	.	ENSP00000355920	1.65E-05	CCDS5276.1			1	
DNAH5	0	LGGM	GRCh37	5	13752387	13752387	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	56	8	.	.	ENST00000265104.4:c.10884A>T	p.Leu3628Phe	p.L3628F	ENST00000265104	NM_001369.2	3628	ttA/ttT	0	1	1	UPI0000110101	0	getma.org/pdb.php?prot=DYH5_HUMAN&from=3566&to=3796&var=L3628F	ENST00000265104		ENSG00000039139	2950		64	1.52		HGNC	p.L3628F		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13752387,T,A&fts=all		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		L/F		A	low	10989/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=3566&re=3796&var=L3628F		O95496_HUMAN			YES	DNAH5,missense_variant,p.Leu3628Phe,ENST00000265104,NM_001369.2;							MODERATE	10884/13875	L3628F	DYH5_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000265104		CCDS3882.1			1	
MLIP	0	LGGM	GRCh37	6	53989503	53989503	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	48	8	.	.	ENST00000274897.5:c.452C>T	p.Pro151Leu	p.P151L	ENST00000274897	NM_138569.2	151	cCa/cTa	0	1	1	UPI000013DA33	0	NA	ENST00000274897		ENSG00000146147	21355		56	1.995		HGNC	p.P99L		MLIP		SNV							ENST00000509997	protein_coding	getma.org/?cm=var&var=hg19,6,53989503,C,T&fts=all		Pfam_domain:PF15274,hmmpanther:PTHR31514,hmmpanther:PTHR31514:SF1		P/L		T	medium	565/1815		getma.org/?cm=msa&ty=f&p=MLIP_HUMAN&rb=1&re=200&var=P151L	tolerated(0.06)				YES	MLIP,missense_variant,p.Pro151Leu,ENST00000514921,NM_001281746.1;MLIP,missense_variant,p.Pro162Leu,ENST00000502396,NM_001281747.1;MLIP,missense_variant,p.Pro151Leu,ENST00000274897,NM_138569.2;MLIP,missense_variant,p.Pro110Leu,ENST00000503951,;MLIP,missense_variant,p.Pro99Leu,ENST00000370877,;MLIP,missense_variant,p.Pro89Leu,ENST00000370876,;MLIP,missense_variant,p.Pro145Leu,ENST00000358276,;MLIP,missense_variant,p.Pro99Leu,ENST00000509997,;MLIP,missense_variant,p.Pro152Leu,ENST00000514433,;MLIP,missense_variant,p.Pro33Leu,ENST00000447836,;MLIP,missense_variant,p.Pro33Leu,ENST00000511678,;MLIP,downstream_gene_variant,,ENST00000505762,;MLIP,downstream_gene_variant,,ENST00000460844,;MLIP,non_coding_transcript_exon_variant,,ENST00000511744,;							MODERATE	452/1377	P151L	MLIP_HUMAN			Transcript		benign(0.013)	.	ENSP00000274897		CCDS4954.1			1	
SIPA1L2	0	LGGM	GRCh37	1	232581483	232581483	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	102	8	.	.	ENST00000366630.1:c.3145A>T	p.Ser1049Cys	p.S1049C	ENST00000366630		1049	Agc/Tgc	0	1		UPI00001D7D6A	0	NA	ENST00000262861		ENSG00000116991	23800		110	1.355		HGNC	p.S123C		SIPA1L2		SNV							ENST00000308942	protein_coding	getma.org/?cm=var&var=hg19,1,232581483,T,A&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		S/C		A	low	3372/6555		getma.org/?cm=msa&ty=f&p=SI1L2_HUMAN&rb=1023&re=1060&var=S1049C	deleterious(0.03)					SIPA1L2,missense_variant,p.Ser1049Cys,ENST00000366630,;SIPA1L2,missense_variant,p.Ser1049Cys,ENST00000262861,NM_020808.3;SIPA1L2,missense_variant,p.Ser123Cys,ENST00000308942,;							MODERATE	3145/5169	S1049C	SI1L2_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000262861		CCDS41474.1			1	
LAMB2	0	LGGM	GRCh37	3	49168983	49168983	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	116	8	.	.	ENST00000418109.1:c.633A>T	p.Pro211=	p.P211=	ENST00000418109	NM_002292.3	211	ccA/ccT	0	1		UPI000013EA62	0		ENST00000305544		ENSG00000172037	6487		124			HGNC	p.P62P		LAMB2		SNV			1				ENST00000494831	protein_coding			Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36,SMART_domains:SM00136		P		A		786/5643				F5H520_HUMAN				LAMB2,synonymous_variant,p.=,ENST00000418109,NM_002292.3;LAMB2,synonymous_variant,p.=,ENST00000305544,;LAMB2,synonymous_variant,p.=,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000488638,;							LOW	633/5397		LAMB2_HUMAN			Transcript			.	ENSP00000307156		CCDS2789.1			1	
SMTN	0	LGGM	GRCh37	22	31486792	31486792	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	86	9	.	.	ENST00000358743.1:c.866-2A>T		p.X289_splice	ENST00000358743	NM_134270.2			0	1		UPI000015FD9B	0		ENST00000347557		ENSG00000183963	11126		95			HGNC	-		SMTN		SNV							ENST00000333137	protein_coding							T		-/3130				C9JP19_HUMAN,C9JGQ0_HUMAN				SMTN,splice_acceptor_variant,,ENST00000333137,NM_001207018.1,NM_134269.2;SMTN,splice_acceptor_variant,,ENST00000358743,NM_134270.2;SMTN,splice_acceptor_variant,,ENST00000347557,NM_001207017.1,NM_006932.4;SMTN,upstream_gene_variant,,ENST00000404574,;SMTN,downstream_gene_variant,,ENST00000416786,;SMTN,upstream_gene_variant,,ENST00000455608,;SMTN,downstream_gene_variant,,ENST00000440425,;SMTN,downstream_gene_variant,,ENST00000426927,;SMTN,downstream_gene_variant,,ENST00000432777,;SMTN,downstream_gene_variant,,ENST00000422839,;SMTN,downstream_gene_variant,,ENST00000438223,;SMTN,downstream_gene_variant,,ENST00000431481,;SMTN,downstream_gene_variant,,ENST00000475548,;SMTN,downstream_gene_variant,,ENST00000482444,;SMTN,splice_acceptor_variant,,ENST00000460658,;SMTN,splice_acceptor_variant,,ENST00000489337,;SMTN,splice_acceptor_variant,,ENST00000466272,;SMTN,upstream_gene_variant,,ENST00000493335,;SMTN,downstream_gene_variant,,ENST00000497697,;							HIGH	866/2754		SMTN_HUMAN			Transcript			.	ENSP00000328635		CCDS13886.1			1	
INTS8	0	LGGM	GRCh37	8	95877875	95877875	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	110	9	.	.	ENST00000523731.1:c.2218A>T	p.Ser740Cys	p.S740C	ENST00000523731	NM_017864.3	740	Agt/Tgt	0	1	1	UPI000023B7D0	0	NA	ENST00000523731		ENSG00000164941	26048		119	0.55		HGNC	p.S740C		INTS8		SNV							ENST00000447247	protein_coding	getma.org/?cm=var&var=hg19,8,95877875,A,T&fts=all		hmmpanther:PTHR13350		S/C		T	neutral	2351/4633		getma.org/?cm=msa&ty=f&p=INT8_HUMAN&rb=1&re=993&var=S740C	tolerated(0.12)	E5RJL5_HUMAN,B3KRB0_HUMAN			YES	INTS8,missense_variant,p.Ser740Cys,ENST00000523731,NM_017864.3;INTS8,missense_variant,p.Ser740Cys,ENST00000447247,;INTS8,missense_variant,p.Ser562Cys,ENST00000520526,;INTS8,non_coding_transcript_exon_variant,,ENST00000517918,;INTS8,intron_variant,,ENST00000520845,;INTS8,missense_variant,p.Ser740Cys,ENST00000343161,;INTS8,missense_variant,p.Ser94Cys,ENST00000520315,;INTS8,3_prime_UTR_variant,,ENST00000523206,;INTS8,3_prime_UTR_variant,,ENST00000524333,;INTS8,non_coding_transcript_exon_variant,,ENST00000520853,;INTS8,upstream_gene_variant,,ENST00000519736,;INTS8,upstream_gene_variant,,ENST00000522261,;INTS8,upstream_gene_variant,,ENST00000521155,;INTS8,upstream_gene_variant,,ENST00000523352,;							MODERATE	2218/2988	S740C	INT8_HUMAN			Transcript		benign(0.006)	.	ENSP00000430338		CCDS34925.1			1	
LINC00923	0	LGGM	GRCh37	15	98417283	98417283	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	28	9	.	.	ENST00000503874.3:c.233A>T	p.Lys78Met	p.K78M	ENST00000503874		78	aAg/aTg	0	1	1	UPI0000DF09DF	0		ENST00000503874		ENSG00000251209	28088		37			HGNC	p.K78M		LINC00923		SNV							ENST00000503768	protein_coding					K/M		A		498/1460				H0YM88_HUMAN			YES	LINC00923,missense_variant,p.Lys78Met,ENST00000503874,;RP11-753A21.2,upstream_gene_variant,,ENST00000562480,;LINC00923,upstream_gene_variant,,ENST00000558179,;LINC00923,missense_variant,p.Lys78Met,ENST00000503768,;							MODERATE	233/363					Transcript		benign(0.017)	.	ENSP00000453507					1	
MCHR2	0	LGGM	GRCh37	6	100395669	100395669	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	87	9	.	.	ENST00000281806.2:c.361A>G	p.Ser121Gly	p.S121G	ENST00000281806	NM_001040179.1	121	Agt/Ggt	0	1	1	UPI000003730F	0	getma.org/pdb.php?prot=MCHR2_HUMAN&from=51&to=306&var=S121G	ENST00000281806		ENSG00000152034	20867		96	2.345		HGNC	p.S121G		MCHR2		SNV							ENST00000281806	protein_coding	getma.org/?cm=var&var=hg19,6,100395669,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF7,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/G		C	medium	676/2368		getma.org/?cm=msa&ty=f&p=MCHR2_HUMAN&rb=51&re=306&var=S121G	deleterious(0.02)				YES	MCHR2,missense_variant,p.Ser121Gly,ENST00000281806,NM_001040179.1;MCHR2,missense_variant,p.Ser121Gly,ENST00000369212,NM_032503.2;							MODERATE	361/1023	S121G	MCHR2_HUMAN			Transcript		benign(0.217)	.	ENSP00000281806		CCDS5044.1			1	
KRAS	0	LGGM	GRCh37	12	25380273	25380273	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	17	9	.	.	ENST00000256078.4:c.185A>G	p.Glu62Gly	p.E62G	ENST00000256078	NM_033360.2	62	gAg/gGg	0	1	1	UPI0000133132	0	getma.org/pdb.php?prot=RASK_HUMAN&from=5&to=165&var=E62G	ENST00000256078		ENSG00000133703	6407		26	3.495		HGNC	p.E62G	COSM1360849,COSM1360848	KRAS		SNV			1			1,1	ENST00000311936	protein_coding	getma.org/?cm=var&var=hg19,12,25380273,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF186,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		E/G		C	medium	249/1119		getma.org/?cm=msa&ty=f&p=RASK_HUMAN&rb=5&re=165&var=E62G	deleterious(0)	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN			YES	KRAS,missense_variant,p.Glu62Gly,ENST00000311936,NM_004985.3;KRAS,missense_variant,p.Glu62Gly,ENST00000256078,NM_033360.2;KRAS,intron_variant,,ENST00000557334,;AC087239.1,upstream_gene_variant,,ENST00000594112,;					1,1		MODERATE	185/570	E62G	RASK_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000256078		CCDS8703.1			1	
PHF3	0	LGGM	GRCh37	6	64394972	64394972	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	64	9	.	.	ENST00000262043.3:c.1349A>T	p.Gln450Leu	p.Q450L	ENST00000262043		450	cAg/cTg	0	1	1	UPI000007154D	0	NA	ENST00000262043		ENSG00000118482	8921		73	1.87		HGNC	p.Q450L		PHF3		SNV							ENST00000393387	protein_coding	getma.org/?cm=var&var=hg19,6,64394972,A,T&fts=all		hmmpanther:PTHR14914:SF6,hmmpanther:PTHR14914		Q/L		T	low	1689/8233		getma.org/?cm=msa&ty=f&p=PHF3_HUMAN&rb=1&re=669&var=Q450L	deleterious_low_confidence(0)	E9PE34_HUMAN,E7EVH3_HUMAN,E7ER40_HUMAN,B3KP41_HUMAN			YES	PHF3,missense_variant,p.Gln450Leu,ENST00000262043,;PHF3,missense_variant,p.Gln450Leu,ENST00000393387,NM_015153.2;PHF3,missense_variant,p.Gln264Leu,ENST00000506783,;PHF3,missense_variant,p.Gln450Leu,ENST00000509330,;PHF3,missense_variant,p.Gln403Leu,ENST00000494284,;PHF3,missense_variant,p.Gln362Leu,ENST00000481385,;PHF3,intron_variant,,ENST00000515594,;PHF3,downstream_gene_variant,,ENST00000514822,;PHF3,3_prime_UTR_variant,,ENST00000509876,;							MODERATE	1349/6120	Q450L	PHF3_HUMAN			Transcript		benign(0.009)	.	ENSP00000262043		CCDS4966.1			1	
CASS4	0	LGGM	GRCh37	20	55027524	55027524	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	25	9	.	.	ENST00000371336.3:c.1292A>T	p.Lys431Met	p.K431M	ENST00000371336	NM_001164114.1	431	aAg/aTg	0	1		UPI00001285DB	0	NA	ENST00000360314		ENSG00000087589	15878		34	2.215		HGNC	p.K431M		CASS4		SNV							ENST00000371336	protein_coding	getma.org/?cm=var&var=hg19,20,55027524,A,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654		K/M		T	medium	1517/2619		getma.org/?cm=msa&ty=f&p=CASS4_HUMAN&rb=266&re=434&var=K431M	deleterious(0.02)					CASS4,missense_variant,p.Lys431Met,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,missense_variant,p.Lys431Met,ENST00000360314,NM_001164116.1;CASS4,intron_variant,,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;							MODERATE	1292/2361	K431M	CASS4_HUMAN			Transcript		benign(0.19)	.	ENSP00000353462		CCDS33492.1			1	
NME9	0	LGGM	GRCh37	3	138034415	138034415	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	74	9	.	.	ENST00000383180.2:c.202-1166T>A		*68*	ENST00000383180	NM_178130.2			0	1		UPI0000050338	0		ENST00000333911		ENSG00000181322	21343		83			HGNC	p.L113Q		NME9		SNV							ENST00000333911	protein_coding			hmmpanther:PTHR11349:SF48,hmmpanther:PTHR11349,Gene3D:3.40.30.10,Superfamily_domains:SSF52833		L/Q		T		366/1281			deleterious(0)	C9JXP5_HUMAN,C9JPM2_HUMAN				NME9,missense_variant,p.Leu113Gln,ENST00000333911,;NME9,missense_variant,p.Leu113Gln,ENST00000475751,;NME9,intron_variant,,ENST00000383180,NM_178130.2;NME9,intron_variant,,ENST00000317876,;NME9,intron_variant,,ENST00000536478,;NME9,intron_variant,,ENST00000484930,;NME9,intron_variant,,ENST00000341790,;NME9,intron_variant,,ENST00000474690,;NME9,intron_variant,,ENST00000492993,;NME9,intron_variant,,ENST00000478220,;NME9,downstream_gene_variant,,ENST00000488716,;							MODERATE	338/993		TXND6_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000335444					1	
SIPA1L1	0	LGGM	GRCh37	14	72054727	72054727	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	125	9	.	.	ENST00000555818.1:c.138A>T	p.Leu46Phe	p.L46F	ENST00000555818	NM_015556.1	46	ttA/ttT	0	1	1	UPI00000443CB	0	NA	ENST00000555818		ENSG00000197555	20284		134	1.1		HGNC	p.L46F		SIPA1L1		SNV							ENST00000358550	protein_coding	getma.org/?cm=var&var=hg19,14,72054727,A,T&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF10		L/F		T	low	486/7831		getma.org/?cm=msa&ty=f&p=SI1L1_HUMAN&rb=1&re=200&var=L46F	deleterious(0.01)	G3V4Z3_HUMAN			YES	SIPA1L1,missense_variant,p.Leu46Phe,ENST00000555818,NM_015556.1,NM_001284247.1;SIPA1L1,missense_variant,p.Leu46Phe,ENST00000358550,NM_001284246.1;SIPA1L1,missense_variant,p.Leu46Phe,ENST00000381232,NM_001284245.1;SIPA1L1,downstream_gene_variant,,ENST00000557151,;SIPA1L1,downstream_gene_variant,,ENST00000555989,;SIPA1L1,downstream_gene_variant,,ENST00000554362,;SIPA1L1,downstream_gene_variant,,ENST00000555652,;							MODERATE	138/5415	L46F	SI1L1_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000450832		CCDS9807.1			1	
HIST1H3I	0	LGGM	GRCh37	6	27840022	27840022	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	43	9	.	.	ENST00000328488.2:c.72G>A	p.Lys24=	p.K24=	ENST00000328488	NM_003533.2	24	aaG/aaA	0	1	1	UPI00000003C7	0		ENST00000328488		ENSG00000182572	4771		52			HGNC	p.K24K		HIST1H3I		SNV							ENST00000328488	protein_coding			Prints_domain:PR00622,Superfamily_domains:SSF47113,Gene3D:1.10.20.10,hmmpanther:PTHR11426		K		T		78/477							YES	HIST1H3I,synonymous_variant,p.=,ENST00000328488,NM_003533.2;HIST1H1B,upstream_gene_variant,,ENST00000331442,NM_005322.2;HIST1H4L,downstream_gene_variant,,ENST00000355981,NM_003546.2;							LOW	72/411		H31_HUMAN			Transcript			.	ENSP00000329554		CCDS4636.1			1	
TP53BP1	0	LGGM	GRCh37	15	43699645	43699645	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	69	9	.	.	ENST00000382044.4:c.5870T>C	p.Ile1957Thr	p.I1957T	ENST00000382044	NM_001141980.1	1957	aTt/aCt	0	1		UPI0000131031	0	getma.org/pdb.php?prot=TP53B_HUMAN&from=1864&to=1964&var=I1952T	ENST00000263801		ENSG00000067369	11999		78	2.19		HGNC	p.I1955T	COSM1664643	TP53BP1		SNV						1	ENST00000450115	protein_coding	getma.org/?cm=var&var=hg19,15,43699645,A,G&fts=all		Gene3D:3.40.50.10190,PROSITE_profiles:PS50172,hmmpanther:PTHR15321,SMART_domains:SM00292,Superfamily_domains:SSF52113		I/T		G	medium	6108/6346		getma.org/?cm=msa&ty=f&p=TP53B_HUMAN&rb=1864&re=1964&var=I1952T	deleterious(0)	B3KVT9_HUMAN				TP53BP1,missense_variant,p.Ile1952Thr,ENST00000263801,NM_005657.2;TP53BP1,missense_variant,p.Ile1957Thr,ENST00000382044,NM_001141980.1,NM_001141979.1;TP53BP1,missense_variant,p.Ile1955Thr,ENST00000450115,;TP53BP1,missense_variant,p.Ile1907Thr,ENST00000382039,;TUBGCP4,downstream_gene_variant,,ENST00000564079,NM_014444.2;TUBGCP4,downstream_gene_variant,,ENST00000260383,NM_001286414.1;TUBGCP4,downstream_gene_variant,,ENST00000399460,;TUBGCP4,downstream_gene_variant,,ENST00000563147,;TUBGCP4,downstream_gene_variant,,ENST00000565548,;TP53BP1,downstream_gene_variant,,ENST00000434595,;TP53BP1,3_prime_UTR_variant,,ENST00000411772,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000476454,;TUBGCP4,downstream_gene_variant,,ENST00000563963,;TUBGCP4,downstream_gene_variant,,ENST00000561691,;TUBGCP4,downstream_gene_variant,,ENST00000566251,;					1		MODERATE	5855/5919	I1952T	TP53B_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000263801		CCDS10096.1			1	
WDR87	0	LGGM	GRCh37	19	38380807	38380807	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	71	9	.	.	ENST00000303868.5:c.3387T>A	p.Ile1129=	p.I1129=	ENST00000303868	NM_031951.3	1129	atT/atA	0	1	1	UPI0001662BC1	0		ENST00000303868		ENSG00000171804	29934		80			HGNC	p.I1129I		WDR87		SNV							ENST00000303868	protein_coding			hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		I		T		3612/8847				B4DXE9_HUMAN			YES	WDR87,synonymous_variant,p.=,ENST00000447313,;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.3;							LOW	3387/8622		WDR87_HUMAN			Transcript			.	ENSP00000368025		CCDS46063.1			1	
KRAS	0	LGGM	GRCh37	12	25380276	25380276	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	19	9	.	.	ENST00000256078.4:c.182A>G	p.Gln61Arg	p.Q61R	ENST00000256078	NM_033360.2	61	cAa/cGa	0	1	1	UPI0000133132	0	getma.org/pdb.php?prot=RASK_HUMAN&from=5&to=165&var=Q61R	ENST00000256078	pathogenic	ENSG00000133703	6407		28	3.3		HGNC	p.Q61R	rs121913240,COSM552,COSM1158660	KRAS		SNV			1			1,1,1	ENST00000311936	protein_coding	getma.org/?cm=var&var=hg19,12,25380276,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51421,hmmpanther:PTHR24070,hmmpanther:PTHR24070:SF186,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		Q/R		C	medium	246/1119		getma.org/?cm=msa&ty=f&p=RASK_HUMAN&rb=5&re=165&var=Q61R	tolerated(0.06)	Q9UM97_HUMAN,Q71SP6_HUMAN,P78460_HUMAN,L7RSL8_HUMAN,I1SRC5_HUMAN			YES	KRAS,missense_variant,p.Gln61Arg,ENST00000311936,NM_004985.3;KRAS,missense_variant,p.Gln61Arg,ENST00000256078,NM_033360.2;KRAS,intron_variant,,ENST00000557334,;AC087239.1,upstream_gene_variant,,ENST00000594112,;					0,1,1		MODERATE	182/570	Q61R	RASK_HUMAN			Transcript		benign(0.374)	.	ENSP00000256078		CCDS8703.1			1	
IWS1	0	LGGM	GRCh37	2	128262430	128262430	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	115	10	.	.	ENST00000295321.4:c.1049A>G	p.His350Arg	p.H350R	ENST00000295321	NM_017969.2	350	cAt/cGt	0	1	1	UPI000006EA82	0	NA	ENST00000295321		ENSG00000163166	25467		125	0.41		HGNC	p.H350R		IWS1		SNV							ENST00000295321	protein_coding	getma.org/?cm=var&var=hg19,2,128262430,T,C&fts=all		hmmpanther:PTHR22908:SF56,hmmpanther:PTHR22908		H/R		C	neutral	1309/2958		getma.org/?cm=msa&ty=f&p=IWS1_HUMAN&rb=318&re=517&var=H350R	tolerated_low_confidence(0.15)				YES	IWS1,missense_variant,p.His350Arg,ENST00000295321,NM_017969.2;IWS1,missense_variant,p.His357Arg,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,;							MODERATE	1049/2460	H350R	IWS1_HUMAN			Transcript		benign(0.001)	.	ENSP00000295321		CCDS2146.1			1	
GRPEL2	0	LGGM	GRCh37	5	148730646	148730646	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	103	10	.	.	ENST00000329271.3:c.479A>T	p.Lys160Met	p.K160M	ENST00000329271	NM_152407.3	160	aAg/aTg	0	1	1	UPI000004A0F1	0	getma.org/pdb.php?prot=GRPE2_HUMAN&from=42&to=219&var=K160M	ENST00000329271		ENSG00000164284	21060		113	3.74		HGNC	p.K160M		GRPEL2		SNV							ENST00000329271	protein_coding	getma.org/?cm=var&var=hg19,5,148730646,A,T&fts=all		HAMAP:MF_01151,hmmpanther:PTHR21237,hmmpanther:PTHR21237:SF10,Pfam_domain:PF01025,Gene3D:1dkgA01,Superfamily_domains:0053405		K/M		T	high	589/4089		getma.org/?cm=msa&ty=f&p=GRPE2_HUMAN&rb=42&re=219&var=K160M	deleterious(0)	Q8N3S0_HUMAN			YES	GRPEL2,missense_variant,p.Lys160Met,ENST00000329271,NM_152407.3;GRPEL2,3_prime_UTR_variant,,ENST00000416916,;GRPEL2,downstream_gene_variant,,ENST00000513661,;GRPEL2-AS1,intron_variant,,ENST00000521295,;GRPEL2,non_coding_transcript_exon_variant,,ENST00000507562,;							MODERATE	479/678	K160M	GRPE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329558		CCDS4295.1			1	
ZNF697	0	LGGM	GRCh37	1	120165799	120165799	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	21	10	.	.	ENST00000421812.2:c.1167C>T	p.Arg389=	p.R389=	ENST00000421812	NM_001080470.1	389	cgC/cgT	0	1	1	UPI0000DD78D7	0		ENST00000421812		ENSG00000143067	32034		31			HGNC	p.R389R		ZNF697		SNV							ENST00000421812	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF55,SMART_domains:SM00355,Superfamily_domains:SSF57667		R		A		1287/5041				Q8N508_HUMAN			YES	ZNF697,synonymous_variant,p.=,ENST00000421812,NM_001080470.1;							LOW	1167/1638		ZN697_HUMAN			Transcript			.	ENSP00000396857		CCDS44202.1			1	
C1orf173	0	LGGM	GRCh37	1	75038670	75038670	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	144	11	.	.	ENST00000326665.5:c.2724A>T	p.Ala908=	p.A908=	ENST00000326665	NM_001002912.4	908	gcA/gcT	0	1	1	UPI0000237200	0		ENST00000326665		ENSG00000178965	25346		155			HGNC	p.A908A		C1orf173		SNV							ENST00000326665	protein_coding			hmmpanther:PTHR23034,Low_complexity_(Seg):seg		A		A		2943/7159							YES	C1orf173,synonymous_variant,p.=,ENST00000326665,NM_001002912.4;C1orf173,non_coding_transcript_exon_variant,,ENST00000433746,;							LOW	2724/4593		CA173_HUMAN			Transcript			.	ENSP00000322609		CCDS30755.1			1	
PCDH7	0	LGGM	GRCh37	4	31144328	31144328	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	68	11	.	.	ENST00000543491.1:c.3625T>A	p.Leu1209Met	p.L1209M	ENST00000543491		1209	Ttg/Atg	0	1	1	UPI0001CB27C3	0	NA	ENST00000543491		ENSG00000169851	8659		79	0.46		HGNC	p.L1209M		PCDH7		SNV							ENST00000543491	protein_coding	getma.org/?cm=var&var=hg19,4,31144328,T,A&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF14		L/M		A	neutral	3625/3768		getma.org/?cm=msa&ty=f&p=F5GWJ1_HUMAN&rb=1201&re=1255&var=L1209M	tolerated_low_confidence(0.56)	F5GWJ1_HUMAN			YES	PCDH7,missense_variant,p.Leu891Met,ENST00000511884,NM_001173523.1,NM_032457.3;PCDH7,missense_variant,p.Leu1209Met,ENST00000543491,;PCDH7,non_coding_transcript_exon_variant,,ENST00000509759,;							MODERATE	3625/3768	L1209M				Transcript		benign(0.032)	.	ENSP00000441802		CCDS54753.1			1	
MAP1LC3B	0	LGGM	GRCh37	16	87436618	87436618	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	37	11	.	.	ENST00000268607.5:c.293T>C	p.Val98Ala	p.V98A	ENST00000268607	NM_022818.4	98	gTg/gCg	0	1	1	UPI0000001057	0	getma.org/pdb.php?prot=MLP3B_HUMAN&from=15&to=120&var=V98A	ENST00000268607		ENSG00000140941	13352		48	2.09		HGNC	p.V39A		MAP1LC3B		SNV							ENST00000534986	protein_coding	getma.org/?cm=var&var=hg19,16,87436618,T,C&fts=all		hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF15,Gene3D:3.10.20.90,Pfam_domain:PF02991,Superfamily_domains:SSF54236		V/A		C	medium	921/2688		getma.org/?cm=msa&ty=f&p=MLP3B_HUMAN&rb=15&re=120&var=V98A	tolerated(0.08)	Q49A36_HUMAN,Q658J6_HUMAN,H6UMI0_HUMAN			YES	MAP1LC3B,missense_variant,p.Val98Ala,ENST00000268607,NM_022818.4;MAP1LC3B,missense_variant,p.Val39Ala,ENST00000534986,;ZCCHC14,downstream_gene_variant,,ENST00000268616,NM_015144.2;MAP1LC3B,downstream_gene_variant,,ENST00000565788,;RP11-178L8.3,upstream_gene_variant,,ENST00000569147,;MAP1LC3B,3_prime_UTR_variant,,ENST00000564844,;MAP1LC3B,3_prime_UTR_variant,,ENST00000570189,;ZCCHC14,downstream_gene_variant,,ENST00000568020,;MAP1LC3B,downstream_gene_variant,,ENST00000564638,;							MODERATE	293/378	V98A	MLP3B_HUMAN			Transcript		benign(0.168)	.	ENSP00000268607		CCDS10960.1			1	
TTN	0	LGGM	GRCh37	2	179589202	179589202	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	90	11	.	.	ENST00000589042.1:c.20900T>A	p.Leu6967Gln	p.L6967Q	ENST00000589042	NM_001267550.1	6967	cTg/cAg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=6631&to=6720&var=L6650Q	ENST00000591111		ENSG00000155657	12403		101	3.915		HGNC	p.L6967Q		TTN		SNV			1				ENST00000589042	protein_coding	getma.org/?cm=var&var=hg19,2,179589202,A,T&fts=all		Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		L/Q		T	high	20174/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=6631&re=6720&var=L6650Q		C9JQJ2_HUMAN				TTN,missense_variant,p.Leu6967Gln,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Leu6650Gln,ENST00000591111,;TTN,missense_variant,p.Leu5723Gln,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,;							MODERATE	19949/103053	L6650Q	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CDH26	0	LGGM	GRCh37	20	58606377	58606377	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	63	11	.	.	ENST00000244047.5:c.2264A>T	p.Tyr755Phe	p.Y755F	ENST00000244047		755	tAc/tTc	0	1	1	UPI000156542B	0		ENST00000244047		ENSG00000124215	15902		74			HGNC	p.Y755F		CDH26		SNV							ENST00000244047	protein_coding					Y/F		T		2575/2870			tolerated_low_confidence(0.11)					CDH26,missense_variant,p.Tyr755Phe,ENST00000244047,;CDH26,missense_variant,p.Tyr347Phe,ENST00000370991,;							MODERATE	2264/2559		CAD26_HUMAN			Transcript		benign(0.153)	.	ENSP00000244047					1	
PTPRK	0	LGGM	GRCh37	6	128812903	128812903	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	88	11	.	.	ENST00000368213.5:c.100+28501C>G		*34*	ENST00000368213	NM_001135648.1			0	1		UPI0000148ED1	0		ENST00000368215		ENSG00000152894	9674		99			HGNC	p.G64G		PTPRK		SNV							ENST00000392449	protein_coding							C		-/4651								PTPRK,intron_variant,,ENST00000368227,;PTPRK,intron_variant,,ENST00000368226,NM_002844.3;PTPRK,intron_variant,,ENST00000368213,NM_001135648.1;PTPRK,intron_variant,,ENST00000532331,;PTPRK,intron_variant,,ENST00000368210,;PTPRK,intron_variant,,ENST00000368207,;PTPRK,intron_variant,,ENST00000368215,;PTPRK,intron_variant,,ENST00000525459,;PTPRK,non_coding_transcript_exon_variant,,ENST00000495748,;PTPRK,intron_variant,,ENST00000524481,;PTPRK,intron_variant,,ENST00000524534,;PTPRK,synonymous_variant,p.=,ENST00000392449,;PTPRK,intron_variant,,ENST00000532751,;							MODIFIER	-/4320		PTPRK_HUMAN			Transcript			.	ENSP00000357198					1	
OR2B2	0	LGGM	GRCh37	6	27879081	27879081	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	24	11	.	.	ENST00000303324.2:c.1017T>A	p.Pro339=	p.P339=	ENST00000303324	NM_033057.2	339	ccT/ccA	0	1	1	UPI000004187A	0		ENST00000303324		ENSG00000168131	13966		35			HGNC	p.P339P		OR2B2		SNV							ENST00000303324	protein_coding			Transmembrane_helices:TMhelix		P		T		1094/1212				Q6IFA1_HUMAN			YES	OR2B2,synonymous_variant,p.=,ENST00000303324,NM_033057.2;							LOW	1017/1074		OR2B2_HUMAN			Transcript			.	ENSP00000304419		CCDS4641.1			1	
TRPA1	0	LGGM	GRCh37	8	72964891	72964891	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	69	12	.	.	ENST00000262209.4:c.1754A>T	p.His585Leu	p.H585L	ENST00000262209	NM_007332.2	585	cAc/cTc	0	1	1	UPI000021081A	0	NA	ENST00000262209		ENSG00000104321	497		81	2.34		HGNC	p.H585L		TRPA1		SNV			1				ENST00000262209	protein_coding	getma.org/?cm=var&var=hg19,8,72964891,T,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24190,hmmpanther:PTHR24190:SF5,SMART_domains:SM00248,Superfamily_domains:SSF48403		H/L		A	medium	1962/5223		getma.org/?cm=msa&ty=f&p=TRPA1_HUMAN&rb=576&re=677&var=H585L	deleterious(0)				YES	TRPA1,missense_variant,p.His585Leu,ENST00000262209,NM_007332.2;TRPA1,missense_variant,p.His437Leu,ENST00000523582,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000537896,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000524152,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000457356,;RP11-383H13.1,non_coding_transcript_exon_variant,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000518916,;RP11-383H13.1,downstream_gene_variant,,ENST00000519751,;RP11-383H13.1,3_prime_UTR_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;TRPA1,downstream_gene_variant,,ENST00000520788,;							MODERATE	1754/3360	H585L	TRPA1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262209		CCDS34908.1			1	
ABCG4	0	LGGM	GRCh37	11	119029581	119029581	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	79	12	.	.	ENST00000307417.3:c.1379A>G	p.Tyr460Cys	p.Y460C	ENST00000307417	NM_022169.4	460	tAc/tGc	0	1	1	UPI000000D999	0	NA	ENST00000307417		ENSG00000172350	13884		91	1.9		HGNC	p.Y460C	COSM3738886	ABCG4		SNV						1	ENST00000307417	protein_coding	getma.org/?cm=var&var=hg19,11,119029581,A,G&fts=all		Pfam_domain:PF01061,hmmpanther:PTHR19241,hmmpanther:PTHR19241:SF211		Y/C		G	low	1743/3849		getma.org/?cm=msa&ty=f&p=ABCG4_HUMAN&rb=372&re=583&var=Y460C	deleterious(0.02)	Q9NT30_HUMAN,E9PJ00_HUMAN			YES	ABCG4,missense_variant,p.Tyr460Cys,ENST00000307417,NM_022169.4;ABCG4,missense_variant,p.Tyr460Cys,ENST00000531739,;ABCG4,missense_variant,p.Tyr460Cys,ENST00000449422,NM_001142505.1;ABCG4,downstream_gene_variant,,ENST00000534402,;ABCG4,downstream_gene_variant,,ENST00000524604,;AP002956.1,upstream_gene_variant,,ENST00000599663,;ABCG4,non_coding_transcript_exon_variant,,ENST00000533694,;					1		MODERATE	1379/1941	Y460C	ABCG4_HUMAN			Transcript		benign(0.087)	.	ENSP00000304111		CCDS8415.1			1	
CCNJL	0	LGGM	GRCh37	5	159682556	159682556	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	193	13	.	.	ENST00000393977.3:c.887T>A	p.Val296Glu	p.V296E	ENST00000393977	NM_024565.5	296	gTa/gAa	0	1	1	UPI000020C075	0	NA	ENST00000393977		ENSG00000135083	25876		206	-1.545		HGNC	p.V248D		CCNJL		SNV							ENST00000519673	protein_coding	getma.org/?cm=var&var=hg19,5,159682556,A,T&fts=all		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF63,Gene3D:1.10.472.10,Pfam_domain:PF02984,SMART_domains:SM00385,Superfamily_domains:SSF47954		V/E		T	neutral	1173/3320		getma.org/?cm=msa&ty=f&p=CCNJL_HUMAN&rb=193&re=315&var=V296E	deleterious(0)				YES	CCNJL,missense_variant,p.Val296Glu,ENST00000393977,NM_024565.5;CCNJL,missense_variant,p.Val248Glu,ENST00000257536,;CCNJL,missense_variant,p.Val247Asp,ENST00000541762,;CCNJL,missense_variant,p.Val248Asp,ENST00000519673,;CCNJL,downstream_gene_variant,,ENST00000520748,;CCNJL,splice_region_variant,,ENST00000377503,;RP11-34P1.2,upstream_gene_variant,,ENST00000522428,;							MODERATE	887/1308	V296E	CCNJL_HUMAN			Transcript		possibly_damaging(0.723)	.	ENSP00000377547		CCDS4350.2			1	
DNAH17	0	LGGM	GRCh37	17	76492097	76492097	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	80	13	.	.	ENST00000389840.5:c.5721T>A	p.Asp1907Glu	p.D1907E	ENST00000389840		1907	gaT/gaA	0	1	1	UPI0001A5EE11	0	getma.org/pdb.php?prot=DYH17_HUMAN&from=1795&to=2025&var=D1907E	ENST00000389840		ENSG00000187775	2946		93	2.005		HGNC	p.D1907E		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76492097,A,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Gene3D:3.40.50.300,Pfam_domain:PF12774,Superfamily_domains:SSF52540		D/E		T	medium	5846/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=1795&re=2025&var=D1907E					YES	DNAH17,missense_variant,p.Asp1907Glu,ENST00000389840,;DNAH17,missense_variant,p.Asp1916Glu,ENST00000585328,NM_173628.3;DNAH17-AS1,upstream_gene_variant,,ENST00000598378,;RP11-559N14.5,intron_variant,,ENST00000591373,;RP11-559N14.5,downstream_gene_variant,,ENST00000585969,;DNAH17,upstream_gene_variant,,ENST00000586052,;							MODERATE	5721/13458	D1907E	DYH17_HUMAN			Transcript		possibly_damaging(0.729)	.	ENSP00000374490					1	
CDH12	0	LGGM	GRCh37	5	21975318	21975318	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	55	13	.	.	ENST00000382254.1:c.408C>G	p.Thr136=	p.T136=	ENST00000382254	NM_004061.3	136	acC/acG	0	1	1	UPI00000622EB	0		ENST00000382254		ENSG00000154162	1751		68			HGNC	p.T136T	rs773701288	CDH12		SNV							ENST00000522262	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293,SMART_domains:SM00112,Superfamily_domains:SSF49313		T		C		1495/4164				B3KRT0_HUMAN			YES	CDH12,synonymous_variant,p.=,ENST00000382254,NM_004061.3;CDH12,synonymous_variant,p.=,ENST00000504376,;CDH12,synonymous_variant,p.=,ENST00000522262,;CDH12,non_coding_transcript_exon_variant,,ENST00000517378,;	0.000121						LOW	408/2385		CAD12_HUMAN			Transcript			.	ENSP00000371689	8.41E-06	CCDS3890.1			1	
UNC79	0	LGGM	GRCh37	14	94088652	94088652	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	93	13	.	.	ENST00000256339.4:c.4542T>A	p.Asp1514Glu	p.D1514E	ENST00000256339	NM_020818.3	1514	gaT/gaA	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		106	0.46		HGNC	p.D1514E		UNC79		SNV							ENST00000256339	protein_coding	getma.org/?cm=var&var=hg19,14,94088652,T,A&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		D/E		A	neutral	5073/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=1461&re=1869&var=D1691E	tolerated_low_confidence(0.08)					UNC79,missense_variant,p.Asp1713Glu,ENST00000553484,;UNC79,missense_variant,p.Asp1691Glu,ENST00000555664,;UNC79,missense_variant,p.Asp1514Glu,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Asp1691Glu,ENST00000393151,;							MODERATE	5073/7908	D1691E	UNC79_HUMAN			Transcript		benign(0.078)	.	ENSP00000376858					1	
HEPHL1	0	LGGM	GRCh37	11	93822117	93822117	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	86	13	.	.	ENST00000315765.9:c.2277G>T	p.Val759=	p.V759=	ENST00000315765	NM_001098672.1	759	gtG/gtT	0	1	1	UPI0000237563	0		ENST00000315765		ENSG00000181333	30477		99			HGNC	p.V759V		HEPHL1		SNV							ENST00000315765	protein_coding			hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Gene3D:2.60.40.420,Superfamily_domains:SSF49503		V		T		2285/5345							YES	HEPHL1,synonymous_variant,p.=,ENST00000315765,NM_001098672.1;							LOW	2277/3480		HPHL1_HUMAN			Transcript			.	ENSP00000313699		CCDS44710.1			1	
OR8J1	0	LGGM	GRCh37	11	56128106	56128106	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	38	13	.	.	ENST00000303039.3:c.384C>A	p.Asn128Lys	p.N128K	ENST00000303039	NM_001005205.2	128	aaC/aaA	0	1	1	UPI000004BE58	0	getma.org/pdb.php?prot=OR8J1_HUMAN&from=1&to=138&var=N128K	ENST00000303039		ENSG00000172487	14855	8.67E-05	51	0.285		HGNC	p.N128K	rs750933627	OR8J1	0.000185	SNV							ENST00000303039	protein_coding	getma.org/?cm=var&var=hg19,11,56128106,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF249,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		N/K		A	neutral	416/1074		getma.org/?cm=msa&ty=f&p=OR8J1_HUMAN&rb=1&re=138&var=N128K	tolerated(0.12)				YES	OR8J1,missense_variant,p.Asn128Lys,ENST00000303039,NM_001005205.2;RPL5P29,downstream_gene_variant,,ENST00000482972,;							MODERATE	384/951	N128K	OR8J1_HUMAN			Transcript		benign(0.023)	.	ENSP00000304060	3.29E-05	CCDS31529.1			1	
ZNF69	0	LGGM	GRCh37	19	12015543	12015543	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	111	13	.	.	ENST00000340180.5:c.289A>T	p.Arg97Trp	p.R97W	ENST00000340180	NM_021915.2	97	Agg/Tgg	0	1		UPI0000EE6040	0	NA	ENST00000429654		ENSG00000198429	13138		124	1.04		HGNC	p.R97W		ZNF69		SNV							ENST00000340180	protein_coding	getma.org/?cm=var&var=hg19,19,12015543,A,T&fts=all		hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF35		R/W		T	low	471/2010		getma.org/?cm=msa&ty=f&p=C9JR48_HUMAN&rb=51&re=154&var=R97W	deleterious(0.01)					ZNF69,missense_variant,p.Arg111Trp,ENST00000429654,;ZNF69,missense_variant,p.Arg97Trp,ENST00000340180,NM_021915.2;ZNF69,missense_variant,p.Arg97Trp,ENST00000445911,;							MODERATE	331/1701	R97W	ZNF69_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000402985					1	
GOLGA8S	0	LGGM	GRCh37	15	23605883	23605883	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	87	14	.	.	ENST00000562295.1:c.795G>A	p.Ser265=	p.S265=	ENST00000562295		265	tcG/tcA	0	1	1	UPI00024672CC	0		ENST00000562295		ENSG00000261739	44409		101			HGNC	p.S265S	rs375110315	GOLGA8S		SNV							ENST00000562295	protein_coding			Pfam_domain:PF15070,hmmpanther:PTHR10881		S		A		795/1878	1.60E-05			H3BPF8_HUMAN			YES	GOLGA8S,synonymous_variant,p.=,ENST00000562295,;AC100756.1,upstream_gene_variant,,ENST00000459602,;RN7SL536P,upstream_gene_variant,,ENST00000491146,;GOLGA8S,non_coding_transcript_exon_variant,,ENST00000604046,;	0.000117						LOW	795/1878			0.000308		Transcript			.	ENSP00000455298	5.08E-05		0.00116		1	
SFMBT1	0	LGGM	GRCh37	3	52955849	52955849	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	79	15	.	.	ENST00000394752.3:c.1132-2A>G		p.X378_splice	ENST00000394752	NM_016329.3			0	1	1	UPI0000070BC6	0		ENST00000394752		ENSG00000163935	20255		94			HGNC	-		SFMBT1		SNV							ENST00000394752	protein_coding							C		-/4548				C9JWI3_HUMAN,C9IZZ5_HUMAN,C9IY64_HUMAN			YES	SFMBT1,splice_acceptor_variant,,ENST00000394752,NM_016329.3;SFMBT1,splice_acceptor_variant,,ENST00000394750,;SFMBT1,splice_acceptor_variant,,ENST00000358080,;SFMBT1,splice_acceptor_variant,,ENST00000296295,;SFMBT1,splice_acceptor_variant,,ENST00000492146,;							HIGH	1132/2601		SMBT1_HUMAN			Transcript			.	ENSP00000378235		CCDS2867.1			1	
SLC15A4	0	LGGM	GRCh37	12	129299454	129299454	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	98	15	.	.	ENST00000266771.5:c.708T>C	p.Ala236=	p.A236=	ENST00000266771	NM_145648.3	236	gcT/gcC	0	1	1	UPI000006F120	0		ENST00000266771		ENSG00000139370	23090		113			HGNC	p.A236A		SLC15A4		SNV							ENST00000266771	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF00854,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF80,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		A		G		748/2776				F5GZQ7_HUMAN,B6ZDF2_HUMAN			YES	SLC15A4,synonymous_variant,p.=,ENST00000266771,NM_145648.3;SLC15A4,5_prime_UTR_variant,,ENST00000376740,;SLC15A4,upstream_gene_variant,,ENST00000544112,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000539703,;SLC15A4,downstream_gene_variant,,ENST00000535272,;SLC15A4,synonymous_variant,p.=,ENST00000376744,;SLC15A4,non_coding_transcript_exon_variant,,ENST00000366292,;							LOW	708/1734		S15A4_HUMAN			Transcript			.	ENSP00000266771		CCDS9264.1			1	
MUC17	0	LGGM	GRCh37	7	100683332	100683332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	255	15	.	.	ENST00000306151.4:c.8635A>G	p.Thr2879Ala	p.T2879A	ENST00000306151	NM_001040105.1	2879	Acg/Gcg	0	1	1	UPI0000D5BB56	0	NA	ENST00000306151		ENSG00000169876	16800		270	1.04		HGNC	p.T2879A		MUC17		SNV							ENST00000379439	protein_coding	getma.org/?cm=var&var=hg19,7,100683332,A,G&fts=all				T/A		G	low	8699/14241		getma.org/?cm=msa&ty=f&p=MUC17_HUMAN&rb=61&re=3889&var=T2879A		A1A4F7_HUMAN			YES	MUC17,missense_variant,p.Thr2879Ala,ENST00000306151,NM_001040105.1;MUC17,missense_variant,p.Thr2879Ala,ENST00000379439,;MUC17,upstream_gene_variant,,ENST00000470303,;							MODERATE	8635/13482	T2879A	MUC17_HUMAN			Transcript		unknown(0)	.	ENSP00000302716		CCDS34711.1			1	
PITPNM2	0	LGGM	GRCh37	12	123494607	123494607	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	35	15	.	.	ENST00000320201.4:c.433A>G	p.Lys145Glu	p.K145E	ENST00000320201	NM_020845.2	145	Aaa/Gaa	0	1	1	UPI0000070D27	0	getma.org/pdb.php?prot=PITM2_HUMAN&from=1&to=253&var=K145E	ENST00000320201		ENSG00000090975	21044		50	2.27		HGNC	p.K145E		PITPNM2		SNV							ENST00000280562	protein_coding	getma.org/?cm=var&var=hg19,12,123494607,T,C&fts=all		Superfamily_domains:SSF55961,Gene3D:3.30.530.20,Pfam_domain:PF02121,hmmpanther:PTHR10658,hmmpanther:PTHR10658:SF41		K/E		C	medium	572/6736		getma.org/?cm=msa&ty=f&p=PITM2_HUMAN&rb=1&re=253&var=K145E	deleterious(0)	Q9UF51_HUMAN,F5H664_HUMAN			YES	PITPNM2,missense_variant,p.Lys145Glu,ENST00000280562,;PITPNM2,missense_variant,p.Lys145Glu,ENST00000320201,NM_020845.2;PITPNM2,missense_variant,p.Lys145Glu,ENST00000542749,;PITPNM2,missense_variant,p.Lys145Glu,ENST00000546049,;PITPNM2,intron_variant,,ENST00000392428,;PITPNM2,downstream_gene_variant,,ENST00000542210,;MIR4304,downstream_gene_variant,,ENST00000580964,;PITPNM2,non_coding_transcript_exon_variant,,ENST00000451868,;PITPNM2,upstream_gene_variant,,ENST00000436074,;							MODERATE	433/4050	K145E	PITM2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000322218		CCDS9242.1			1	
OC90	0	LGGM	GRCh37	8	133045330	133045330	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	119	15	.	.	ENST00000254627.3:c.815C>T	p.Ala272Val	p.A272V	ENST00000254627	NM_001080399.2	272	gCa/gTa	0	1	1	UPI000192B908	0	NA	ENST00000254627		ENSG00000253117	8100		134	0.895		HGNC	p.A272V		OC90		SNV							ENST00000254627	protein_coding	getma.org/?cm=var&var=hg19,8,133045330,G,A&fts=all		hmmpanther:PTHR11716,hmmpanther:PTHR11716:SF1		A/V		A	low	902/1782		getma.org/?cm=msa&ty=f&p=OC90_HUMAN&rb=192&re=319&var=A288V	tolerated(0.19)				YES	OC90,missense_variant,p.Ala484Val,ENST00000262283,;OC90,missense_variant,p.Ala288Val,ENST00000443356,;OC90,missense_variant,p.Ala272Val,ENST00000254627,NM_001080399.2;OC90,missense_variant,p.Ala272Val,ENST00000603859,;							MODERATE	815/1434	A288V	OC90_HUMAN			Transcript		benign(0.023)	.	ENSP00000254627		CCDS47919.1			1	
WDR87	0	LGGM	GRCh37	19	38379579	38379579	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	139	16	.	.	ENST00000303868.5:c.4615A>T	p.Lys1539Ter	p.K1539*	ENST00000303868	NM_031951.3	1539	Aag/Tag	0	1	1	UPI0001662BC1	0	NA	ENST00000303868		ENSG00000171804	29934		155	0		HGNC	p.K1539X		WDR87		SNV							ENST00000303868	protein_coding	getma.org/?cm=var&var=hg19,19,38379579,T,A&fts=all		hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		K/*		A	NA	4840/8847		NA		B4DXE9_HUMAN			YES	WDR87,stop_gained,p.Lys1578Ter,ENST00000447313,;WDR87,stop_gained,p.Lys1539Ter,ENST00000303868,NM_031951.3;							HIGH	4615/8622	K1539*	WDR87_HUMAN			Transcript			.	ENSP00000368025		CCDS46063.1			1	
ATP8B1	0	LGGM	GRCh37	18	55364856	55364856	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	82	17	.	.	ENST00000536015.1:c.692T>C	p.Leu231Pro	p.L231P	ENST00000536015	NM_005603.4	231	cTg/cCg	0	1		UPI000013DD54	0	NA	ENST00000283684		ENSG00000081923	3706		99	3.845		HGNC	p.L231P		ATP8B1		SNV			1				ENST00000283684	protein_coding	getma.org/?cm=var&var=hg19,18,55364856,A,G&fts=all		hmmpanther:PTHR24092:SF48,hmmpanther:PTHR24092,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049471		L/P		G	high	692/5818		getma.org/?cm=msa&ty=f&p=AT8B1_HUMAN&rb=147&re=418&var=L231P	deleterious(0)	K7ERI0_HUMAN,K7EQC4_HUMAN				ATP8B1,missense_variant,p.Leu231Pro,ENST00000536015,NM_005603.4;ATP8B1,missense_variant,p.Leu231Pro,ENST00000283684,;RP11-35G9.3,intron_variant,,ENST00000599199,;RP11-35G9.5,intron_variant,,ENST00000588925,;ATP8B1,downstream_gene_variant,,ENST00000589147,;ATP8B1,downstream_gene_variant,,ENST00000591728,;							MODERATE	692/3756	L231P	AT8B1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000283684		CCDS11965.1			1	
SUGP2	0	LGGM	GRCh37	19	19121137	19121137	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110061	H110061N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	87	18	.	.	ENST00000601879.1:c.1865A>C	p.Glu622Ala	p.E622A	ENST00000601879		622	gAa/gCa	0	1		UPI000019825D	0	getma.org/pdb.php?prot=SUGP2_HUMAN&from=586&to=638&var=E622A	ENST00000337018		ENSG00000064607	18641		105	0.895		HGNC	p.E636A		SUGP2		SNV							ENST00000600377	protein_coding	getma.org/?cm=var&var=hg19,19,19121137,T,G&fts=all		hmmpanther:PTHR23340:SF2,hmmpanther:PTHR23340,Pfam_domain:PF01805,SMART_domains:SM00648,Superfamily_domains:SSF109905		E/A		G	low	1999/3640		getma.org/?cm=msa&ty=f&p=SUGP2_HUMAN&rb=586&re=638&var=E622A	deleterious(0)	M0R065_HUMAN				SUGP2,missense_variant,p.Glu622Ala,ENST00000601879,;SUGP2,missense_variant,p.Glu636Ala,ENST00000600377,;SUGP2,missense_variant,p.Glu622Ala,ENST00000452918,NM_001017392.3;SUGP2,missense_variant,p.Glu622Ala,ENST00000337018,NM_014884.3;SUGP2,missense_variant,p.Glu391Ala,ENST00000456085,;SUGP2,missense_variant,p.Glu622Ala,ENST00000600239,;SUGP2,missense_variant,p.Glu622Ala,ENST00000594773,;SUGP2,missense_variant,p.Glu622Ala,ENST00000330854,;SUGP2,3_prime_UTR_variant,,ENST00000598240,;							MODERATE	1865/3249	E622A	SUGP2_HUMAN			Transcript		possibly_damaging(0.7)	.	ENSP00000337926		CCDS12392.1			1	
MFF	0	LGGM	GRCh37	2	228197271	228197271	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	201	19	.	.	ENST00000353339.3:c.396A>T	p.Leu132Phe	p.L132F	ENST00000353339	NM_001277061.1	132	ttA/ttT	0	1	1	UPI0000072C36	0	NA	ENST00000353339		ENSG00000168958	24858		220	1.43		HGNC	p.L106F		MFF		SNV							ENST00000409565	protein_coding	getma.org/?cm=var&var=hg19,2,228197271,A,T&fts=all		Pfam_domain:PF05644,hmmpanther:PTHR16501		L/F		T	low	837/2186		getma.org/?cm=msa&ty=f&p=MFF_HUMAN&rb=27&re=342&var=L132F	deleterious(0.01)	E9PPR7_HUMAN,E9PK16_HUMAN,C9JU19_HUMAN,C9JI76_HUMAN,C9JHF5_HUMAN,C9JAF1_HUMAN,C9J846_HUMAN			YES	MFF,missense_variant,p.Leu132Phe,ENST00000353339,NM_001277061.1;MFF,missense_variant,p.Leu132Phe,ENST00000392059,NM_020194.5;MFF,missense_variant,p.Leu106Phe,ENST00000304593,NM_001277062.1;MFF,missense_variant,p.Leu106Phe,ENST00000337110,NM_001277063.1;MFF,missense_variant,p.Leu106Phe,ENST00000349901,NM_001277064.1;MFF,missense_variant,p.Leu106Phe,ENST00000409565,NM_001277066.1;MFF,missense_variant,p.Leu106Phe,ENST00000409616,;MFF,missense_variant,p.Leu106Phe,ENST00000354503,NM_001277065.1;MFF,missense_variant,p.Leu106Phe,ENST00000452930,;MFF,5_prime_UTR_variant,,ENST00000524634,;MFF,5_prime_UTR_variant,,ENST00000531278,;MFF,5_prime_UTR_variant,,ENST00000534203,;MFF,5_prime_UTR_variant,,ENST00000530359,;MFF,downstream_gene_variant,,ENST00000418961,;MFF,downstream_gene_variant,,ENST00000423098,;MFF,downstream_gene_variant,,ENST00000443428,;MFF,downstream_gene_variant,,ENST00000525195,;MFF,downstream_gene_variant,,ENST00000436237,;MFF,non_coding_transcript_exon_variant,,ENST00000476924,;MFF,non_coding_transcript_exon_variant,,ENST00000436791,;MFF,non_coding_transcript_exon_variant,,ENST00000460756,;MFF,non_coding_transcript_exon_variant,,ENST00000470090,;MFF,downstream_gene_variant,,ENST00000489696,;							MODERATE	396/1029	L132F	MFF_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000302037		CCDS2465.1			1	
OR6N1	0	LGGM	GRCh37	1	158735903	158735903	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	125	19	.	.	ENST00000335094.2:c.570T>A	p.Thr190=	p.T190=	ENST00000335094	NM_001005185.1	190	acT/acA	0	1	1	UPI000003FE15	0		ENST00000335094		ENSG00000197403	15034		144			HGNC	p.T190T		OR6N1		SNV							ENST00000335094	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF123,Superfamily_domains:SSF81321		T		T		590/1027							YES	OR6N1,synonymous_variant,p.=,ENST00000335094,NM_001005185.1;							LOW	570/939		OR6N1_HUMAN			Transcript			.	ENSP00000335535		CCDS30905.1			1	
MUC16	0	LGGM	GRCh37	19	9065717	9065717	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	189	19	.	.	ENST00000397910.4:c.21729C>T	p.Ser7243=	p.S7243=	ENST00000397910	NM_024690.2	7243	tcC/tcT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		208			HGNC	p.S7243S		MUC16		SNV							ENST00000397910	protein_coding					S		A		21933/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	21729/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
RGPD4	0	LGGM	GRCh37	2	108499188	108499188	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	159	21	.	.	ENST00000408999.3:c.5125A>T	p.Asn1709Tyr	p.N1709Y	ENST00000408999	NM_182588.2	1709	Aac/Tac	0	1	1	UPI0000418FF7	0	NA	ENST00000408999		ENSG00000196862	32417		180	2.985		HGNC	p.N1709Y		RGPD4		SNV							ENST00000408999	protein_coding	getma.org/?cm=var&var=hg19,2,108499188,A,T&fts=all		PROSITE_profiles:PS50913,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,Pfam_domain:PF01465,Gene3D:1uptF00,SMART_domains:SM00755		N/Y		T	medium	5202/5464		getma.org/?cm=msa&ty=f&p=RGPD4_HUMAN&rb=1706&re=1751&var=N1709Y	deleterious_low_confidence(0)	I1Z9D1_HUMAN			YES	RGPD4,missense_variant,p.Asn1709Tyr,ENST00000408999,NM_182588.2;RGPD4,missense_variant,p.Asn1709Tyr,ENST00000354986,;							MODERATE	5125/5277	N1709Y	RGPD4_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000386810		CCDS46381.1			1	
FMN2	0	LGGM	GRCh37	1	240370914	240370946	+	inframe_deletion	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	novel	by Submitter	H110061	H110061N.bam	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	74	41	.	.	ENST00000319653.9:c.2822_2854delGAATACCTCCTCCGCCCCCTCTACCCGGAGCGG	p.Gly941_Ala951del	p.G941_A951del	ENST00000319653	NM_020066.4	934	ctGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCg/ctg	0	1	1	UPI00015FA087	0		ENST00000319653		ENSG00000155816	14074		115			HGNC	p.934_945del	rs562038978,COSM1340565	FMN2		deletion	-:0.3357		1			0,1	ENST00000319653	protein_coding			Pfam_domain:PF06346,Prints_domain:PR01217,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,Low_complexity_(Seg):seg,SMART_domains:SM00498		LPPLPGAGIPPP/L	-:0.2564	-		3032-3064/6434				Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,inframe_deletion,p.Gly941_Ala951del,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;					0,1		MODERATE	2802-2834/5169		FMN2_HUMAN			Transcript	20		.	ENSP00000318884		CCDS31069.2			1	
COL6A6	0	LGGM	GRCh37	3	130287115	130287115	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	152	26	.	.	ENST00000358511.6:c.2068G>T	p.Asp690Tyr	p.D690Y	ENST00000358511	NM_001102608.1	690	Gac/Tac	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=622&to=791&var=D690Y	ENST00000358511		ENSG00000206384	27023		178	3.005		HGNC	p.D690Y		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130287115,G,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		D/Y		T	medium	2099/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=622&re=791&var=D690Y	tolerated(0.06)				YES	COL6A6,missense_variant,p.Asp690Tyr,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Asp690Tyr,ENST00000453409,;							MODERATE	2068/6792	D690Y	CO6A6_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000351310		CCDS46911.1			1	
PLEKHF2	0	LGGM	GRCh37	8	96166945	96166945	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	38	39	.	.	ENST00000315367.3:c.673G>A	p.Asp225Asn	p.D225N	ENST00000315367	NM_024613.3	225	Gac/Aac	0	1	1	UPI0000035DB0	0	NA	ENST00000315367		ENSG00000175895	20757		77	0		HGNC	p.D225N		PLEKHF2		SNV							ENST00000519516	protein_coding	getma.org/?cm=var&var=hg19,8,96166945,G,A&fts=all		hmmpanther:PTHR22835:SF136,hmmpanther:PTHR22835		D/N		A	neutral	914/2881		getma.org/?cm=msa&ty=f&p=PKHF2_HUMAN&rb=214&re=249&var=D225N	tolerated(0.52)				YES	PLEKHF2,missense_variant,p.Asp225Asn,ENST00000315367,NM_024613.3;PLEKHF2,missense_variant,p.Asp225Asn,ENST00000519516,;							MODERATE	673/750	D225N	PKHF2_HUMAN			Transcript		benign(0)	.	ENSP00000322373		CCDS6267.1			1	
CD1E	0	LGGM	GRCh37	1	158325098	158325098	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110061	H110061N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	183	39	.	.	ENST00000368167.3:c.364G>A	p.Glu122Lys	p.E122K	ENST00000368167	NM_030893.3	122	Gag/Aag	0	1	1	UPI000046F8C2	0	getma.org/pdb.php?prot=CD1E_HUMAN&from=1&to=200&var=E122K	ENST00000368167		ENSG00000158488	1638		222	2.555		HGNC	p.E122K		CD1E		SNV							ENST00000368167	protein_coding	getma.org/?cm=var&var=hg19,1,158325098,G,A&fts=all		Gene3D:3.30.500.10,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF8,Superfamily_domains:SSF54452		E/K		A	medium	603/1458		getma.org/?cm=msa&ty=f&p=CD1E_HUMAN&rb=1&re=200&var=E122K	deleterious(0.02)	Q13974_HUMAN			YES	CD1E,missense_variant,p.Glu23Lys,ENST00000444681,NM_001185114.1;CD1E,missense_variant,p.Glu122Lys,ENST00000368160,NM_001042583.2;CD1E,missense_variant,p.Glu122Lys,ENST00000368161,NM_001042584.2;CD1E,missense_variant,p.Glu122Lys,ENST00000368163,NM_001042585.2;CD1E,missense_variant,p.Glu120Lys,ENST00000434258,;CD1E,missense_variant,p.Glu122Lys,ENST00000368167,NM_030893.3;CD1E,intron_variant,,ENST00000368166,NM_001185112.1,NM_001042586.2;CD1E,intron_variant,,ENST00000368165,NM_001185107.1;CD1E,intron_variant,,ENST00000368164,NM_001042587.2;CD1E,intron_variant,,ENST00000368156,NM_001185115.1;CD1E,intron_variant,,ENST00000452291,;CD1E,intron_variant,,ENST00000368155,NM_001185108.1;CD1E,intron_variant,,ENST00000368154,NM_001185113.1;CD1E,intron_variant,,ENST00000368157,NM_001185110.1;CD1E,upstream_gene_variant,,ENST00000368162,;CD1E,non_coding_transcript_exon_variant,,ENST00000464822,;							MODERATE	364/1167	E122K	CD1E_HUMAN			Transcript		possibly_damaging(0.627)	.	ENSP00000357149		CCDS41417.1			1	
CRNN	0	LGGM	GRCh37	1	152382683	152382683	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110061	H110061N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	104	41	.	.	ENST00000271835.3:c.875G>T	p.Gly292Val	p.G292V	ENST00000271835	NM_016190.2	292	gGg/gTg	0	1	1	UPI000006E106	0	NA	ENST00000271835		ENSG00000143536	1230		145	1.7		HGNC	p.G292V		CRNN		SNV							ENST00000271835	protein_coding	getma.org/?cm=var&var=hg19,1,152382683,C,A&fts=all		hmmpanther:PTHR11639,hmmpanther:PTHR11639:SF26		G/V		A	low	938/1902		getma.org/?cm=msa&ty=f&p=CRNN_HUMAN&rb=111&re=494&var=G292V	deleterious(0.02)				YES	CRNN,missense_variant,p.Gly292Val,ENST00000271835,NM_016190.2;RP1-91G5.3,intron_variant,,ENST00000411804,;							MODERATE	875/1488	G292V	CRNN_HUMAN			Transcript		possibly_damaging(0.485)	.	ENSP00000271835		CCDS1010.1			1	
FLG	0	LGGM	GRCh37	1	152285166	152285166	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110061	H110061N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110061N.bam, H110061T.bam	Illumina HiSeq	330	61	.	.	ENST00000368799.1:c.2196T>A	p.Ser732=	p.S732=	ENST00000368799	NM_002016.1	732	tcT/tcA	0	1	1	UPI0000470CB3	0		ENST00000368799		ENSG00000143631	3748		391			HGNC	p.S732S		FLG		SNV			1				ENST00000368799	protein_coding			hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516		S		T		2232/12747				Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,synonymous_variant,p.=,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							LOW	2196/12186		FILA_HUMAN			Transcript			.	ENSP00000357789		CCDS30860.1			1	
C19orf26	0	LGGM	GRCh37	19	1234572	1234572	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	2	2	.	.	ENST00000590083.1:c.625C>A	p.Gln209Lys	p.Q209K	ENST00000590083		209	Cag/Aag	0	1		UPI000006DF67	0	NA	ENST00000382477		ENSG00000099625	28617		4	1.1		HGNC	p.Q203K		C19orf26		SNV							ENST00000215376	protein_coding	getma.org/?cm=var&var=hg19,19,1234572,G,T&fts=all				Q/K		T	low	960/2453		getma.org/?cm=msa&ty=f&p=DOS_HUMAN&rb=1&re=239&var=Q229K	deleterious(0)					C19orf26,missense_variant,p.Gln209Lys,ENST00000590083,;C19orf26,missense_variant,p.Gln203Lys,ENST00000215376,NM_152769.2;C19orf26,missense_variant,p.Gln229Lys,ENST00000382477,;AC004221.2,upstream_gene_variant,,ENST00000592843,;C19orf26,missense_variant,p.Gln86Lys,ENST00000591127,;C19orf26,downstream_gene_variant,,ENST00000589260,;							MODERATE	685/2178	Q229K	DOS_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000371917					1	
DZIP3	0	LGGM	GRCh37	3	108380996	108380996	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	4	2	.	.	ENST00000361582.3:c.2315G>A	p.Arg772Lys	p.R772K	ENST00000361582	NM_014648.3	772	aGa/aAa	0	1	1	UPI000006E7D4	0	NA	ENST00000361582		ENSG00000198919	30938		6	-0.41		HGNC	p.R772K	rs758989319	DZIP3		SNV							ENST00000463306	protein_coding	getma.org/?cm=var&var=hg19,3,108380996,G,A&fts=all		hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15		R/K		A	neutral	2545/5350	1.59E-05	getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=571&re=1009&var=R772K	tolerated(1)	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,missense_variant,p.Arg772Lys,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Arg772Lys,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							MODERATE	2315/3627	R772K	DZIP3_HUMAN			Transcript		benign(0)	.	ENSP00000355028	8.24E-06	CCDS2952.1			1	
SGK2	0	LGGM	GRCh37	20	42195707	42195707	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	15	3	.	.	ENST00000341458.4:c.217-1G>A		p.X73_splice	ENST00000341458	NM_016276.3			0	1	1	UPI0000033528	0		ENST00000341458		ENSG00000101049	13900		18			HGNC	-		SGK2		SNV							ENST00000373100	protein_coding							A		-/2164							YES	SGK2,splice_acceptor_variant,,ENST00000373100,;SGK2,splice_acceptor_variant,,ENST00000341458,NM_016276.3;SGK2,splice_acceptor_variant,,ENST00000373092,NM_170693.2;SGK2,splice_acceptor_variant,,ENST00000373077,;SGK2,splice_acceptor_variant,,ENST00000426287,;SGK2,splice_acceptor_variant,,ENST00000423407,NM_001199264.1;SGK2,splice_acceptor_variant,,ENST00000412111,;SGK2,upstream_gene_variant,,ENST00000485914,;SGK2,splice_acceptor_variant,,ENST00000496343,;							HIGH	217/1284		SGK2_HUMAN			Transcript			.	ENSP00000340608		CCDS13320.1			1	
TTN	0	LGGM	GRCh37	2	179406008	179406008	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	39	3	.	.	ENST00000589042.1:c.97795+1G>T		p.X32599_splice	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		42			HGNC	-		TTN		SNV			1				ENST00000359218	protein_coding							A		-/104301				C9JQJ2_HUMAN				TTN,splice_donor_variant,,ENST00000589042,NM_001267550.1;TTN,splice_donor_variant,,ENST00000591111,;TTN,splice_donor_variant,,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,splice_donor_variant,,ENST00000342175,NM_133437.3;TTN,splice_donor_variant,,ENST00000359218,NM_133432.3;TTN,splice_donor_variant,,ENST00000460472,NM_003319.4;RP11-65L3.4,non_coding_transcript_exon_variant,,ENST00000604692,;TTN-AS1,intron_variant,,ENST00000419746,;TTN-AS1,intron_variant,,ENST00000456053,;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000590040,;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,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,intron_variant,,ENST00000438095,;TTN-AS1,downstream_gene_variant,,ENST00000589434,;TTN-AS1,downstream_gene_variant,,ENST00000431259,;TTN-AS1,downstream_gene_variant,,ENST00000588257,;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,;TTN-AS1,upstream_gene_variant,,ENST00000590932,;TTN-AS1,downstream_gene_variant,,ENST00000589842,;TTN-AS1,downstream_gene_variant,,ENST00000588716,;TTN-AS1,downstream_gene_variant,,ENST00000592836,;TTN-AS1,downstream_gene_variant,,ENST00000415561,;							HIGH	92872/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
CEP135	0	LGGM	GRCh37	4	56865715	56865715	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	14	3	.	.	ENST00000257287.4:c.2184C>T	p.Thr728=	p.T728=	ENST00000257287	NM_025009.4	728	acC/acT	0	1	1	UPI00003CE420	0		ENST00000257287		ENSG00000174799	29086		17			HGNC	p.T728T		CEP135		SNV			1				ENST00000257287	protein_coding			hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF10		T		T		2308/5562							YES	CEP135,synonymous_variant,p.=,ENST00000257287,NM_025009.4;CEP135,non_coding_transcript_exon_variant,,ENST00000506202,;							LOW	2184/3423		CP135_HUMAN			Transcript			.	ENSP00000257287		CCDS33986.1			1	
GPBP1L1	0	LGGM	GRCh37	1	46099834	46099834	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	34	3	.	.	ENST00000355105.3:c.819C>T	p.Thr273=	p.T273=	ENST00000355105	NM_021639.4	273	acC/acT	0	1		UPI0000072AA4	0		ENST00000290795		ENSG00000159592	28843		37			HGNC	p.T273T	rs765592778	GPBP1L1		SNV							ENST00000355105	protein_coding			hmmpanther:PTHR14339,hmmpanther:PTHR14339:SF10		T		A		2041/3599								GPBP1L1,synonymous_variant,p.=,ENST00000355105,NM_021639.4;GPBP1L1,synonymous_variant,p.=,ENST00000290795,;GPBP1L1,non_coding_transcript_exon_variant,,ENST00000479235,;GPBP1L1,upstream_gene_variant,,ENST00000467032,;GPBP1L1,upstream_gene_variant,,ENST00000487436,;GPBP1L1,upstream_gene_variant,,ENST00000468724,;							LOW	819/1425		GPBL1_HUMAN			Transcript			.	ENSP00000290795		CCDS528.1			1	
LRBA	0	LGGM	GRCh37	4	151836873	151836873	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	12	3	.	.	ENST00000357115.3:c.901A>G	p.Met301Val	p.M301V	ENST00000357115	NM_006726.4	301	Atg/Gtg	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		15	2.175		HGNC	p.M301V		LRBA		SNV			1				ENST00000535741	protein_coding	getma.org/?cm=var&var=hg19,4,151836873,T,C&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64,Pfam_domain:PF13385,Gene3D:2.60.120.200,Superfamily_domains:SSF49899		M/V		C	medium	1145/9899		getma.org/?cm=msa&ty=f&p=LRBA_HUMAN&rb=205&re=377&var=M301V	deleterious(0.04)	Q7KZN3_HUMAN			YES	LRBA,missense_variant,p.Met301Val,ENST00000535741,;LRBA,missense_variant,p.Met301Val,ENST00000510413,NM_001199282.2;LRBA,missense_variant,p.Met301Val,ENST00000357115,NM_006726.4;LRBA,missense_variant,p.Met301Val,ENST00000507224,;							MODERATE	901/8592	M301V	LRBA_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000349629		CCDS3773.1			1	
ZNF138	0	LGGM	GRCh37	7	64292116	64292116	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	14	3	.	.	ENST00000440155.2:c.418C>T	p.His140Tyr	p.H140Y	ENST00000440155	NM_006524.3	140	Cat/Tat	0	1	1	UPI000198CD4D	0	NA	ENST00000440155		ENSG00000197008	12922		17	1.65		HGNC	p.H140Y		ZNF138		SNV							ENST00000440155	protein_coding	getma.org/?cm=var&var=hg19,7,64292116,C,T&fts=all		Gene3D:3.30.160.60,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF98,Superfamily_domains:SSF57667		H/Y		T	low	562/1066		getma.org/?cm=msa&ty=f&p=ZN138_HUMAN&rb=1&re=123&var=H109Y	tolerated(0.24)	E7EWC5_HUMAN,A2RRP7_HUMAN			YES	ZNF138,missense_variant,p.His109Tyr,ENST00000359735,NM_001271637.1,NM_001271639.1;ZNF138,missense_variant,p.His134Tyr,ENST00000437743,NM_001271638.1,NM_001271649.1;ZNF138,missense_variant,p.His109Tyr,ENST00000397136,;ZNF138,missense_variant,p.His166Tyr,ENST00000307355,;ZNF138,missense_variant,p.His140Tyr,ENST00000440155,NM_006524.3;ZNF138,3_prime_UTR_variant,,ENST00000440598,;ZNF138,3_prime_UTR_variant,,ENST00000494380,NM_001160183.2;ZNF138,non_coding_transcript_exon_variant,,ENST00000430838,;RP11-797H7.1,downstream_gene_variant,,ENST00000427545,;							MODERATE	418/882	H109Y	ZN138_HUMAN			Transcript		benign(0.096)	.	ENSP00000407262		CCDS34645.2			1	
TMX4	0	LGGM	GRCh37	20	7980470	7980470	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	32	3	.	.	ENST00000246024.2:c.376G>T	p.Gly126Ter	p.G126*	ENST00000246024	NM_021156.2	126	Gga/Tga	0	1	1	UPI000003B0A9	0	NA	ENST00000246024		ENSG00000125827	25237		35	0		HGNC	p.G126X		TMX4		SNV							ENST00000246024	protein_coding	getma.org/?cm=var&var=hg19,20,7980470,C,A&fts=all		PROSITE_profiles:PS51352,hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF72,Gene3D:3.40.30.10,Pfam_domain:PF00085,Superfamily_domains:SSF52833		G/*		A	NA	592/6169		NA					YES	TMX4,splice_acceptor_variant,,ENST00000527925,;TMX4,stop_gained,p.Gly126Ter,ENST00000246024,NM_021156.2;TMX4,non_coding_transcript_exon_variant,,ENST00000530935,;TMX4,3_prime_UTR_variant,,ENST00000462384,;							HIGH	376/1050	G126*	TMX4_HUMAN			Transcript			.	ENSP00000246024		CCDS13101.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H110104	H110104N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	12	6	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	18			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
TRPM4	0	LGGM	GRCh37	19	49713585	49713585	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	18	4	.	.	ENST00000252826.5:c.3251A>T	p.His1084Leu	p.H1084L	ENST00000252826	NM_017636.3	1084	cAc/cTc	0	1	1	UPI0000070598	0	NA	ENST00000252826		ENSG00000130529	17993		22	3.255		HGNC	p.H1084L		TRPM4		SNV			1				ENST00000252826	protein_coding	getma.org/?cm=var&var=hg19,19,49713585,A,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6		H/L		T	medium	3377/4109		getma.org/?cm=msa&ty=f&p=TRPM4_HUMAN&rb=955&re=1154&var=H1084L	deleterious(0)				YES	TRPM4,missense_variant,p.His1084Leu,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.His939Leu,ENST00000427978,NM_001195227.1;TRPM4,missense_variant,p.His730Leu,ENST00000355712,;TRPM4,upstream_gene_variant,,ENST00000597316,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,upstream_gene_variant,,ENST00000599459,;							MODERATE	3251/3645	H1084L	TRPM4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000252826		CCDS33073.1			1	
UNC13C	0	LGGM	GRCh37	15	54614140	54614140	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	34	4	.	.	ENST00000260323.11:c.4272C>T	p.His1424=	p.H1424=	ENST00000260323	NM_001080534.1	1424	caC/caT	0	1	1	UPI0000DD82AB	0		ENST00000260323		ENSG00000137766	23149		38			HGNC	p.H1422H		UNC13C		SNV							ENST00000537900	protein_coding			hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		H		T		4272/8131				H3BRP8_HUMAN			YES	UNC13C,synonymous_variant,p.=,ENST00000545554,;UNC13C,synonymous_variant,p.=,ENST00000537900,;UNC13C,synonymous_variant,p.=,ENST00000260323,NM_001080534.1;UNC13C,non_coding_transcript_exon_variant,,ENST00000561210,;HNRNPA1P74,upstream_gene_variant,,ENST00000560782,;							LOW	4272/6645		UN13C_HUMAN			Transcript			.	ENSP00000260323		CCDS45264.1			1	
ELFN2	0	LGGM	GRCh37	22	37771401	37771401	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	6	4	.	.	ENST00000402918.2:c.174C>G	p.His58Gln	p.H58Q	ENST00000402918	NM_052906.3	58	caC/caG	0	1	1	UPI000004E87D	0	getma.org/pdb.php?prot=PPR29_HUMAN&from=1&to=200&var=H58Q	ENST00000402918		ENSG00000166897	29396		10	0.355		HGNC	p.H58Q		ELFN2		SNV							ENST00000402918	protein_coding	getma.org/?cm=var&var=hg19,22,37771401,G,C&fts=all		hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		H/Q		C	neutral	960/8361		getma.org/?cm=msa&ty=f&p=PPR29_HUMAN&rb=1&re=200&var=H58Q	tolerated(0.53)				YES	ELFN2,missense_variant,p.His58Gln,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,;							MODERATE	174/2463	H58Q	PPR29_HUMAN			Transcript		benign(0.048)	.	ENSP00000385277		CCDS33642.1			1	
PRAMEF2	0	LGGM	GRCh37	1	12921549	12921549	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	88	4	.	.	ENST00000240189.2:c.1340C>A	p.Pro447His	p.P447H	ENST00000240189	NM_023014.1	447	cCc/cAc	0	1	1	UPI0000139EF9	0	NA	ENST00000240189		ENSG00000120952	28841		92	2.96		HGNC	p.P447H		PRAMEF2		SNV							ENST00000240189	protein_coding	getma.org/?cm=var&var=hg19,1,12921549,C,A&fts=all		hmmpanther:PTHR14224:SF20,hmmpanther:PTHR14224,PIRSF_domain:PIRSF038286		P/H		A	medium	1427/1642		getma.org/?cm=msa&ty=f&p=PRAM2_HUMAN&rb=401&re=474&var=P447H	deleterious(0)				YES	PRAMEF2,missense_variant,p.Pro447His,ENST00000240189,NM_023014.1;							MODERATE	1340/1425	P447H	PRAM2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000240189		CCDS149.1			1	
CORO2A	0	LGGM	GRCh37	9	100893301	100893301	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	18	4	.	.	ENST00000343933.5:c.806G>A	p.Gly269Asp	p.G269D	ENST00000343933	NM_003389.3	269	gGc/gAc	0	1	1	UPI0000127C45	0	getma.org/pdb.php?prot=COR2A_HUMAN&from=261&to=397&var=G269D	ENST00000343933		ENSG00000106789	2255		22	2.065		HGNC	p.G269D		CORO2A		SNV							ENST00000343933	protein_coding	getma.org/?cm=var&var=hg19,9,100893301,C,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF08954,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF2,Superfamily_domains:SSF50978		G/D		T	medium	1064/5635		getma.org/?cm=msa&ty=f&p=COR2A_HUMAN&rb=261&re=397&var=G269D	deleterious(0.02)				YES	CORO2A,missense_variant,p.Gly269Asp,ENST00000343933,NM_003389.3;CORO2A,missense_variant,p.Gly269Asp,ENST00000375077,NM_052820.3;							MODERATE	806/1578	G269D	COR2A_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000343746		CCDS6735.1			1	
SERPINB7	0	LGGM	GRCh37	18	61460449	61460449	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	15	5	.	.	ENST00000398019.2:c.274A>T	p.Lys92Ter	p.K92*	ENST00000398019	NM_003784.3	92	Aag/Tag	0	1		UPI0000135DAA	0	NA	ENST00000336429		ENSG00000166396	13902		20	0		HGNC	p.K92X		SERPINB7		SNV			1				ENST00000336429	protein_coding	getma.org/?cm=var&var=hg19,18,61460449,A,T&fts=all		hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		K/*		T	NA	370/1973		NA		Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN				SERPINB7,stop_gained,p.Lys92Ter,ENST00000398019,NM_003784.3;SERPINB7,stop_gained,p.Lys92Ter,ENST00000336429,NM_001040147.2;SERPINB7,stop_gained,p.Lys92Ter,ENST00000546027,NM_001261830.1;SERPINB7,stop_gained,p.Lys75Ter,ENST00000540675,NM_001261831.1;SERPINB7,stop_gained,p.Lys92Ter,ENST00000425392,;SERPINB7,stop_gained,p.Lys92Ter,ENST00000447428,;SERPINB7,stop_gained,p.Lys92Ter,ENST00000431370,;							HIGH	274/1143	K92*	SPB7_HUMAN			Transcript			.	ENSP00000337212		CCDS11988.1			1	
SIRT3	0	LGGM	GRCh37	11	233216	233216	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	13	6	.	.	ENST00000382743.4:c.474-1G>C		p.X158_splice	ENST00000382743	NM_012239.5			0	1	1	UPI0000073D3C	0		ENST00000382743		ENSG00000142082	14931		19			HGNC	-		SIRT3		SNV							ENST00000382743	protein_coding							G		-/2543				E9PNA0_HUMAN,E9PM52_HUMAN			YES	SIRT3,splice_acceptor_variant,,ENST00000382743,NM_012239.5,NM_001017524.2;SIRT3,splice_acceptor_variant,,ENST00000525319,;SIRT3,splice_acceptor_variant,,ENST00000524564,;SIRT3,splice_acceptor_variant,,ENST00000532956,;SIRT3,splice_acceptor_variant,,ENST00000529382,;SIRT3,splice_acceptor_variant,,ENST00000528469,;SIRT3,splice_acceptor_variant,,ENST00000525237,;SIRT3,splice_acceptor_variant,,ENST00000525776,;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,splice_acceptor_variant,,ENST00000528702,;SIRT3,splice_acceptor_variant,,ENST00000531753,;SIRT3,splice_acceptor_variant,,ENST00000532837,;SIRT3,splice_acceptor_variant,,ENST00000526854,;SIRT3,splice_acceptor_variant,,ENST00000529055,;SIRT3,splice_acceptor_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,;							HIGH	474/1200		SIR3_HUMAN			Transcript			.	ENSP00000372191		CCDS7691.1			1	
TSEN2	0	LGGM	GRCh37	3	12573116	12573116	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	10	6	.	.	ENST00000284995.6:c.1296G>T	p.Lys432Asn	p.K432N	ENST00000284995	NM_025265.3	432	aaG/aaT	0	1	1	UPI000006CC96	0	NA	ENST00000284995		ENSG00000154743	28422		16	0		HGNC	p.K432N		TSEN2		SNV			1				ENST00000284995	protein_coding	getma.org/?cm=var&var=hg19,3,12573116,G,T&fts=all		hmmpanther:PTHR21227,hmmpanther:PTHR21227:SF0,Gene3D:3.40.1350.10,PIRSF_domain:PIRSF011789,Superfamily_domains:SSF53032		K/N		T	neutral	1683/2381		getma.org/?cm=msa&ty=f&p=SEN2_HUMAN&rb=432&re=465&var=K432N	tolerated(0.07)	C9J7Z4_HUMAN			YES	TSEN2,missense_variant,p.Lys432Asn,ENST00000284995,NM_025265.3;TSEN2,missense_variant,p.Lys406Asn,ENST00000415684,;TSEN2,missense_variant,p.Lys432Asn,ENST00000402228,NM_001145392.1;TSEN2,missense_variant,p.Lys415Asn,ENST00000383797,;TSEN2,missense_variant,p.Lys406Asn,ENST00000314571,NM_001145393.1;TSEN2,missense_variant,p.Lys373Asn,ENST00000454502,NM_001145394.1;TSEN2,missense_variant,p.Lys17Asn,ENST00000412698,;TSEN2,downstream_gene_variant,,ENST00000444864,NM_001145395.1;TSEN2,downstream_gene_variant,,ENST00000446004,;TSEN2,non_coding_transcript_exon_variant,,ENST00000475595,;C3orf83,intron_variant,,ENST00000567514,;TSEN2,missense_variant,p.Lys48Asn,ENST00000455118,;TSEN2,non_coding_transcript_exon_variant,,ENST00000473755,;							MODERATE	1296/1398	K432N	SEN2_HUMAN			Transcript		benign(0.052)	.	ENSP00000284995		CCDS2611.1			1	
ABCC3	0	LGGM	GRCh37	17	48751019	48751019	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	13	6	.	.	ENST00000285238.8:c.2599G>A	p.Ala867Thr	p.A867T	ENST00000285238	NM_003786.3	867	Gcg/Acg	0	1	1	UPI000004B145	0	NA	ENST00000285238		ENSG00000108846	54		19	-0.345		HGNC	p.A867T	rs747342723	ABCC3		SNV							ENST00000285238	protein_coding	getma.org/?cm=var&var=hg19,17,48751019,G,A&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF199,TIGRFAM_domain:TIGR00957		A/T		A	neutral	2679/5716	6.02E-05	getma.org/?cm=msa&ty=f&p=MRP3_HUMAN&rb=780&re=964&var=A867T	tolerated(0.43)	Q96QA9_HUMAN,Q2M3C9_HUMAN			YES	ABCC3,missense_variant,p.Ala867Thr,ENST00000285238,NM_003786.3;ABCC3,missense_variant,p.Ala16Thr,ENST00000513745,;ABCC3,splice_region_variant,,ENST00000506464,;ABCC3,upstream_gene_variant,,ENST00000510891,;ABCC3,downstream_gene_variant,,ENST00000503304,;ABCC3,missense_variant,p.Ala867Thr,ENST00000505699,;ABCC3,splice_region_variant,,ENST00000502426,;ABCC3,splice_region_variant,,ENST00000510633,;	0.000116						MODERATE	2599/4584	A867T	MRP3_HUMAN			Transcript		benign(0.004)	.	ENSP00000285238	4.12E-05	CCDS32681.1			1	
KCNAB3	0	LGGM	GRCh37	17	7827366	7827366	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	6	6	.	.	ENST00000303790.2:c.847A>T	p.Thr283Ser	p.T283S	ENST00000303790	NM_004732.3	283	Act/Tct	0	1	1	UPI000013E8ED	0	getma.org/pdb.php?prot=KCAB3_HUMAN&from=92&to=397&var=T283S	ENST00000303790		ENSG00000170049	6230		12	1.19		HGNC	p.T283S		KCNAB3		SNV							ENST00000303790	protein_coding	getma.org/?cm=var&var=hg19,17,7827366,T,A&fts=all		hmmpanther:PTHR11732:SF137,hmmpanther:PTHR11732,Gene3D:3.20.20.100,Pfam_domain:PF00248,TIGRFAM_domain:TIGR01293,Superfamily_domains:SSF51430,Prints_domain:PR01577		T/S		A	low	847/2458		getma.org/?cm=msa&ty=f&p=KCAB3_HUMAN&rb=92&re=397&var=T283S	tolerated(0.07)				YES	KCNAB3,missense_variant,p.Thr283Ser,ENST00000303790,NM_004732.3;KCNAB3,3_prime_UTR_variant,,ENST00000570587,;KCNAB3,non_coding_transcript_exon_variant,,ENST00000576981,;KCNAB3,downstream_gene_variant,,ENST00000570852,;KCNAB3,upstream_gene_variant,,ENST00000572275,;KCNAB3,downstream_gene_variant,,ENST00000574006,;RP11-1099M24.7,downstream_gene_variant,,ENST00000573621,;							MODERATE	847/1215	T283S	KCAB3_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000302719		CCDS11124.1			1	
SEC61A2	0	LGGM	GRCh37	10	12199038	12199038	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	17	6	.	.	ENST00000298428.9:c.749T>A	p.Phe250Tyr	p.F250Y	ENST00000298428	NM_018144.3	250	tTt/tAt	0	1	1	UPI0000000B0A	0	getma.org/pdb.php?prot=S61A2_HUMAN&from=75&to=459&var=F250Y	ENST00000298428		ENSG00000065665	17702		23	2.56		HGNC	p.F250Y		SEC61A2		SNV							ENST00000379020	protein_coding	getma.org/?cm=var&var=hg19,10,12199038,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10906,Pfam_domain:PF00344,Gene3D:1.10.3370.10,TIGRFAM_domain:TIGR00967,PIRSF_domain:PIRSF004557,Superfamily_domains:0043235		F/Y		A	medium	838/1893		getma.org/?cm=msa&ty=f&p=S61A2_HUMAN&rb=75&re=459&var=F250Y	tolerated(0.11)	Q9NVQ7_HUMAN			YES	SEC61A2,missense_variant,p.Phe228Tyr,ENST00000379033,NM_001142628.1;SEC61A2,missense_variant,p.Phe250Tyr,ENST00000379020,;SEC61A2,missense_variant,p.Phe250Tyr,ENST00000304267,NM_001142627.1;SEC61A2,missense_variant,p.Phe250Tyr,ENST00000298428,NM_018144.3;SEC61A2,missense_variant,p.Phe132Tyr,ENST00000419021,;SEC61A2,missense_variant,p.Phe162Tyr,ENST00000441368,;SEC61A2,intron_variant,,ENST00000418772,;SEC61A2,downstream_gene_variant,,ENST00000379051,;SEC61A2,downstream_gene_variant,,ENST00000379017,;SEC61A2,non_coding_transcript_exon_variant,,ENST00000495368,;SEC61A2,non_coding_transcript_exon_variant,,ENST00000466451,;SEC61A2,missense_variant,p.Phe250Tyr,ENST00000475268,;SEC61A2,3_prime_UTR_variant,,ENST00000472221,;							MODERATE	749/1431	F250Y	S61A2_HUMAN			Transcript		benign(0.168)	.	ENSP00000298428		CCDS7088.1			1	
BCL11B	0	LGGM	GRCh37	14	99640708	99640708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	5	6	.	.	ENST00000357195.3:c.2465G>T	p.Arg822Leu	p.R822L	ENST00000357195	NM_138576.2	822	cGg/cTg	0	1	1	UPI000006E083	0	getma.org/pdb.php?prot=BC11B_HUMAN&from=810&to=835&var=R822L	ENST00000357195		ENSG00000127152	13222		11	2.055		HGNC	p.R751L		BCL11B		SNV							ENST00000345514	protein_coding	getma.org/?cm=var&var=hg19,14,99640708,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF45,Superfamily_domains:SSF57667		R/L		A	medium	2475/7559		getma.org/?cm=msa&ty=f&p=BC11B_HUMAN&rb=790&re=855&var=R822L	deleterious(0)	L8B7P7_HUMAN			YES	BCL11B,missense_variant,p.Arg751Leu,ENST00000345514,NM_022898.1,NM_001282238.1;BCL11B,missense_variant,p.Arg822Leu,ENST00000357195,NM_138576.2,NM_001282237.1;BCL11B,missense_variant,p.Arg628Leu,ENST00000443726,;							MODERATE	2465/2685	R822L	BC11B_HUMAN			Transcript		benign(0.045)	.	ENSP00000349723		CCDS9950.1			1	
SALL4	0	LGGM	GRCh37	20	50405533	50405533	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	19	6	.	.	ENST00000217086.4:c.2609A>G	p.His870Arg	p.H870R	ENST00000217086	NM_020436.3	870	cAt/cGt	0	1	1	UPI0000135527	0	NA	ENST00000217086		ENSG00000101115	15924		25	2.565		HGNC	p.H870R		SALL4		SNV			1				ENST00000217086	protein_coding	getma.org/?cm=var&var=hg19,20,50405533,T,C&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/R		C	medium	2721/3497		getma.org/?cm=msa&ty=f&p=SALL4_HUMAN&rb=829&re=883&var=H870R	deleterious(0.02)				YES	SALL4,missense_variant,p.His870Arg,ENST00000217086,NM_020436.3;SALL4,missense_variant,p.His433Arg,ENST00000395997,;SALL4,missense_variant,p.His93Arg,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;							MODERATE	2609/3162	H870R	SALL4_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000217086		CCDS13438.1			1	
TAPBPL	0	LGGM	GRCh37	12	6568072	6568072	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	6	6	.	.	ENST00000266556.7:c.1166T>A	p.Leu389Gln	p.L389Q	ENST00000266556	NM_018009.4	389	cTg/cAg	0	1	1	UPI000013D6F6	0	getma.org/pdb.php?prot=TPSNR_HUMAN&from=311&to=394&var=L389Q	ENST00000266556		ENSG00000139192	30683		12	2.97		HGNC	p.L389Q		TAPBPL		SNV							ENST00000266556	protein_coding	getma.org/?cm=var&var=hg19,12,6568072,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR23411,hmmpanther:PTHR23411:SF3,SMART_domains:SM00407,Superfamily_domains:SSF48726		L/Q		A	medium	1331/1741		getma.org/?cm=msa&ty=f&p=TPSNR_HUMAN&rb=311&re=394&var=L389Q	deleterious(0)				YES	TAPBPL,missense_variant,p.Leu389Gln,ENST00000266556,NM_018009.4;VAMP1,downstream_gene_variant,,ENST00000361716,;VAMP1,downstream_gene_variant,,ENST00000396308,NM_199245.1,NM_014231.3;VAMP1,downstream_gene_variant,,ENST00000400911,NM_016830.2;TAPBPL,downstream_gene_variant,,ENST00000544021,;VAMP1,downstream_gene_variant,,ENST00000535180,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000545700,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000539384,;TAPBPL,non_coding_transcript_exon_variant,,ENST00000543567,;TAPBPL,intron_variant,,ENST00000542160,;VAMP1,downstream_gene_variant,,ENST00000544432,;TAPBPL,upstream_gene_variant,,ENST00000544289,;							MODERATE	1166/1407	L389Q	TPSNR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000266556		CCDS8546.1			1	
ZNF45	0	LGGM	GRCh37	19	44423059	44423059	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	26	6	.	.	ENST00000269973.5:c.198G>A	p.Trp66Ter	p.W66*	ENST00000269973	NM_003425.3	66	tgG/tgA	0	1	1	UPI0000001C64	0	NA	ENST00000269973		ENSG00000124459	13111		32	0		HGNC	p.W66X		ZNF45		SNV							ENST00000269973	protein_coding	getma.org/?cm=var&var=hg19,19,44423059,C,T&fts=all		SMART_domains:SM00349,hmmpanther:PTHR24377:SF174,hmmpanther:PTHR24377,PROSITE_profiles:PS50805		W/*		T	NA	1289/3898		NA		K7EPV5_HUMAN			YES	ZNF45,stop_gained,p.Trp66Ter,ENST00000269973,NM_003425.3;ZNF45,stop_gained,p.Trp66Ter,ENST00000589703,;ZNF45,stop_gained,p.Trp30Ter,ENST00000588140,;RP11-15A1.2,intron_variant,,ENST00000586247,;							HIGH	198/2049	W66*	ZNF45_HUMAN			Transcript			.	ENSP00000269973		CCDS12632.1			1	
IL1RL1	0	LGGM	GRCh37	2	102968034	102968034	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	20	6	.	.	ENST00000233954.1:c.1324A>G	p.Arg442Gly	p.R442G	ENST00000233954	NM_016232.4	442	Agg/Ggg	0	1	1	UPI000013C992	0	getma.org/pdb.php?prot=ILRL1_HUMAN&from=379&to=534&var=R442G	ENST00000233954		ENSG00000115602	5998		26	3.215		HGNC	p.R442G		IL1RL1		SNV							ENST00000233954	protein_coding	getma.org/?cm=var&var=hg19,2,102968034,A,G&fts=all		PROSITE_profiles:PS50104,hmmpanther:PTHR11890:SF7,hmmpanther:PTHR11890,Gene3D:3.40.50.10140,Pfam_domain:PF01582,SMART_domains:SM00255,Superfamily_domains:SSF52200,Prints_domain:PR01537		R/G		G	medium	1595/2058		getma.org/?cm=msa&ty=f&p=ILRL1_HUMAN&rb=379&re=534&var=R442G	deleterious(0)	C9JSY6_HUMAN,A8VPX0_HUMAN			YES	IL1RL1,missense_variant,p.Arg442Gly,ENST00000233954,NM_016232.4;IL18R1,intron_variant,,ENST00000410040,;IL18R1,upstream_gene_variant,,ENST00000409599,;IL18R1,upstream_gene_variant,,ENST00000466357,;							MODERATE	1324/1671	R442G	ILRL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000233954		CCDS2057.1			1	
ZNF467	0	LGGM	GRCh37	7	149462030	149462030	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	4	6	.	.	ENST00000302017.3:c.1561G>C	p.Ala521Pro	p.A521P	ENST00000302017	NM_207336.1	521	Gcc/Ccc	0	1	1	UPI0000160B41	0	getma.org/pdb.php?prot=ZN467_HUMAN&from=501&to=526&var=A521P	ENST00000302017		ENSG00000181444	23154		10	-0.705		HGNC	p.A521P		ZNF467		SNV							ENST00000302017	protein_coding	getma.org/?cm=var&var=hg19,7,149462030,C,G&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF14,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		A/P		G	neutral	1975/2553		getma.org/?cm=msa&ty=f&p=ZN467_HUMAN&rb=481&re=546&var=A521P	deleterious(0.01)				YES	ZNF467,missense_variant,p.Ala521Pro,ENST00000302017,NM_207336.1;ZNF467,intron_variant,,ENST00000484747,;							MODERATE	1561/1788	A521P	ZN467_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000304769		CCDS5899.1			1	
BSN	0	LGGM	GRCh37	3	49689658	49689658	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	4	7	.	.	ENST00000296452.4:c.2669C>T	p.Ala890Val	p.A890V	ENST00000296452	NM_003458.3	890	gCa/gTa	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		11	0.895		HGNC	p.A890V		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49689658,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1		A/V		T	low	2783/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=522&re=1172&var=A890V					YES	BSN,missense_variant,p.Ala890Val,ENST00000296452,NM_003458.3;BSN,downstream_gene_variant,,ENST00000467456,;							MODERATE	2669/11781	A890V	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
TTC19	0	LGGM	GRCh37	17	15928467	15928467	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	15	8	.	.	ENST00000261647.5:c.813A>C	p.Gln271His	p.Q271H	ENST00000261647	NM_001271420.1	271	caA/caC	0	1	1	UPI0000042226	0	getma.org/pdb.php?prot=TTC19_HUMAN&from=233&to=311&var=Q271H	ENST00000261647		ENSG00000011295	26006		23	1.03		HGNC	p.Q22H		TTC19		SNV			1				ENST00000470649	protein_coding	getma.org/?cm=var&var=hg19,17,15928467,A,C&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF13424,hmmpanther:PTHR13143,Superfamily_domains:SSF48452,Superfamily_domains:SSF48452		Q/H		C	low	1282/3002		getma.org/?cm=msa&ty=f&p=TTC19_HUMAN&rb=233&re=311&var=Q271H	tolerated(0.1)				YES	TTC19,missense_variant,p.Gln271His,ENST00000261647,NM_001271420.1,NM_017775.3;TTC19,missense_variant,p.Gln392His,ENST00000486880,;TTC19,missense_variant,p.Gln22His,ENST00000470649,;TTC19,coding_sequence_variant,p.=,ENST00000578103,;NCOR1,downstream_gene_variant,,ENST00000268712,NM_006311.3;TTC19,non_coding_transcript_exon_variant,,ENST00000497842,;TTC19,3_prime_UTR_variant,,ENST00000475723,;TTC19,non_coding_transcript_exon_variant,,ENST00000481107,;TTC19,non_coding_transcript_exon_variant,,ENST00000465567,;							MODERATE	813/1143	Q271H	TTC19_HUMAN			Transcript		benign(0.12)	.	ENSP00000261647		CCDS11174.2			1	
HEXIM1	0	LGGM	GRCh37	17	43226710	43226710	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	22	8	.	.	ENST00000332499.2:c.153G>C	p.Ala51=	p.A51=	ENST00000332499	NM_006460.2	51	gcG/gcC	0	1	1	UPI000006E405	0		ENST00000332499		ENSG00000186834	24953		30			HGNC	p.A51A		HEXIM1		SNV							ENST00000332499	protein_coding			hmmpanther:PTHR13469,hmmpanther:PTHR13469:SF7		A		C		2027/4785							YES	HEXIM1,synonymous_variant,p.=,ENST00000332499,NM_006460.2;AC002117.1,downstream_gene_variant,,ENST00000589950,;AC002117.1,downstream_gene_variant,,ENST00000452741,;							LOW	153/1080		HEXI1_HUMAN			Transcript			.	ENSP00000328773		CCDS11495.1			1	
FHL2	0	LGGM	GRCh37	2	106002893	106002893	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	27	8	.	.	ENST00000358129.4:c.81C>T	p.Tyr27=	p.Y27=	ENST00000358129	NM_201555.1	27	taC/taT	0	1		UPI0000140D45	0		ENST00000322142		ENSG00000115641	3703		35			HGNC	p.Y27Y		FHL2		SNV			1				ENST00000393352	protein_coding			hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF3,Gene3D:2.10.110.10,Superfamily_domains:SSF57716		Y		A		248/1462				Q6I9R8_HUMAN,Q53T40_HUMAN,Q53QP3_HUMAN,C9J3S8_HUMAN				FHL2,synonymous_variant,p.=,ENST00000409177,;FHL2,synonymous_variant,p.=,ENST00000358129,NM_201555.1;FHL2,synonymous_variant,p.=,ENST00000344213,;FHL2,synonymous_variant,p.=,ENST00000409807,;FHL2,synonymous_variant,p.=,ENST00000393353,NM_001450.3;FHL2,synonymous_variant,p.=,ENST00000322142,NM_001039492.2;FHL2,synonymous_variant,p.=,ENST00000393352,NM_201557.3;FHL2,synonymous_variant,p.=,ENST00000408995,;FHL2,synonymous_variant,p.=,ENST00000336660,;FHL2,synonymous_variant,p.=,ENST00000607522,;FHL2,downstream_gene_variant,,ENST00000447958,;FHL2,synonymous_variant,p.=,ENST00000452732,;FHL2,3_prime_UTR_variant,,ENST00000530340,;							LOW	81/840		FHL2_HUMAN			Transcript			.	ENSP00000322909		CCDS2070.1			1	
RRP9	0	LGGM	GRCh37	3	51970304	51970304	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	22	8	.	.	ENST00000232888.6:c.704A>G	p.Tyr235Cys	p.Y235C	ENST00000232888	NM_004704.4	235	tAc/tGc	0	1	1	UPI000006F889	0	NA	ENST00000232888		ENSG00000114767	16829		30	0.32		HGNC	p.Y235C		RRP9		SNV							ENST00000232888	protein_coding	getma.org/?cm=var&var=hg19,3,51970304,T,C&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19865,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		Y/C		C	neutral	778/1578		getma.org/?cm=msa&ty=f&p=U3IP2_HUMAN&rb=231&re=269&var=Y235C	deleterious(0)				YES	RRP9,missense_variant,p.Tyr235Cys,ENST00000232888,NM_004704.4;							MODERATE	704/1428	Y235C	U3IP2_HUMAN			Transcript		benign(0.033)	.	ENSP00000232888		CCDS2837.1			1	
KIAA1324L	0	LGGM	GRCh37	7	86542320	86542320	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	13	8	.	.	ENST00000450689.2:c.1932C>A	p.Ser644=	p.S644=	ENST00000450689	NM_001142749.2	644	tcC/tcA	0	1	1	UPI000173AA00	0		ENST00000450689		ENSG00000164659	21945		21			HGNC	p.P598Q		KIAA1324L		SNV							ENST00000444627	protein_coding			hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Superfamily_domains:SSF57184		S		T		2118/6841				F1LLU5_HUMAN,C9JFK7_HUMAN			YES	KIAA1324L,missense_variant,p.Pro598Gln,ENST00000444627,;KIAA1324L,synonymous_variant,p.=,ENST00000450689,NM_001142749.2;KIAA1324L,synonymous_variant,p.=,ENST00000297222,;KIAA1324L,synonymous_variant,p.=,ENST00000416314,NM_152748.3;KIAA1324L,synonymous_variant,p.=,ENST00000423294,;KIAA1324L,downstream_gene_variant,,ENST00000490995,;KIAA1324L,downstream_gene_variant,,ENST00000474609,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000470853,;KIAA1324L,upstream_gene_variant,,ENST00000427812,;							LOW	1932/3090		K132L_HUMAN			Transcript			.	ENSP00000413445		CCDS47632.1			1	
RYR3	0	LGGM	GRCh37	15	33939644	33939644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	22	8	.	.	ENST00000389232.4:c.3961C>A	p.Leu1321Ile	p.L1321I	ENST00000389232	NM_001036.3	1321	Ctc/Atc	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		30	0.2		HGNC	p.L1321I		RYR3		SNV							ENST00000389232	protein_coding	getma.org/?cm=var&var=hg19,15,33939644,C,A&fts=all		hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188		L/I		A	neutral	4031/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=1254&re=1466&var=L1321I					YES	RYR3,missense_variant,p.Leu1321Ile,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Leu1321Ile,ENST00000415757,NM_001243996.1;							MODERATE	3961/14613	L1321I	RYR3_HUMAN			Transcript		benign(0)	.	ENSP00000373884		CCDS45210.1			1	
NKTR	0	LGGM	GRCh37	3	42685437	42685437	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	16	8	.	.	ENST00000232978.8:c.4243A>G	p.Ser1415Gly	p.S1415G	ENST00000232978	NM_005385.3	1415	Agt/Ggt	0	1	1	UPI00001301FD	0	NA	ENST00000232978		ENSG00000114857	7833		24	2.085		HGNC	p.S1415G		NKTR		SNV							ENST00000232978	protein_coding	getma.org/?cm=var&var=hg19,3,42685437,A,G&fts=all		Low_complexity_(Seg):seg		S/G		G	medium	4431/7337		getma.org/?cm=msa&ty=f&p=NKTR_HUMAN&rb=715&re=1460&var=S1415G	deleterious_low_confidence(0.01)				YES	NKTR,missense_variant,p.Ser1415Gly,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,,ENST00000490189,;							MODERATE	4243/4389	S1415G	NKTR_HUMAN			Transcript		unknown(0)	.	ENSP00000232978		CCDS2702.1			1	
CCNT2	0	LGGM	GRCh37	2	135712120	135712120	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	20	8	.	.	ENST00000264157.5:c.2095G>T	p.Ala699Ser	p.A699S	ENST00000264157	NM_058241.2	699	Gcc/Tcc	0	1	1	UPI000013E228	0	NA	ENST00000264157		ENSG00000082258	1600		28	1.39		HGNC	p.A699S		CCNT2		SNV							ENST00000264157	protein_coding	getma.org/?cm=var&var=hg19,2,135712120,G,T&fts=all				A/S		T	low	2125/6917		getma.org/?cm=msa&ty=f&p=CCNT2_HUMAN&rb=646&re=730&var=A699S	tolerated(0.06)				YES	CCNT2,missense_variant,p.Ala699Ser,ENST00000264157,NM_058241.2,NM_001241.3;CCNT2,missense_variant,p.Ala118Ser,ENST00000452521,;CCNT2,3_prime_UTR_variant,,ENST00000295238,;CCNT2,3_prime_UTR_variant,,ENST00000537343,;CCNT2,downstream_gene_variant,,ENST00000446247,;CCNT2,downstream_gene_variant,,ENST00000438691,;CCNT2,3_prime_UTR_variant,,ENST00000419781,;CCNT2,3_prime_UTR_variant,,ENST00000452839,;							MODERATE	2095/2193	A699S	CCNT2_HUMAN			Transcript		benign(0.002)	.	ENSP00000264157		CCDS2174.1			1	
GTF3C1	0	LGGM	GRCh37	16	27504582	27504582	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	14	9	.	.	ENST00000356183.4:c.2814G>T	p.Leu938=	p.L938=	ENST00000356183	NM_001520.3	938	ctG/ctT	0	1	1	UPI00001FF123	0		ENST00000356183		ENSG00000077235	4664		23			HGNC	p.L938L		GTF3C1		SNV							ENST00000561623	protein_coding			hmmpanther:PTHR15180		L		A		2830/7018				Q7Z7H4_HUMAN,I3L1Z3_HUMAN			YES	GTF3C1,synonymous_variant,p.=,ENST00000356183,NM_001520.3;GTF3C1,synonymous_variant,p.=,ENST00000561623,NM_001286242.1;GTF3C1,intron_variant,,ENST00000569653,;GTF3C1,upstream_gene_variant,,ENST00000564664,;							LOW	2814/6330		TF3C1_HUMAN			Transcript			.	ENSP00000348510		CCDS32414.1			1	
NFASC	0	LGGM	GRCh37	1	204957920	204957920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	42	10	.	.	ENST00000339876.6:c.2753C>T	p.Ala918Val	p.A918V	ENST00000339876	NM_001005388.2	918	gCa/gTa	0	1	1	UPI0000237208	0	NA	ENST00000339876		ENSG00000163531	29866		52	0.41		HGNC	p.A1021V		NFASC		SNV							ENST00000360049	protein_coding	getma.org/?cm=var&var=hg19,1,204957920,C,T&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF41,PROSITE_profiles:PS50853,Low_complexity_(Seg):seg		A/V		T	neutral	3081/10333		getma.org/?cm=msa&ty=f&p=NFASC_HUMAN&rb=932&re=1025&var=A1025V	tolerated(0.12)	D6RHX4_HUMAN			YES	NFASC,missense_variant,p.Ala1025Val,ENST00000367172,;NFASC,missense_variant,p.Ala1010Val,ENST00000367171,;NFASC,missense_variant,p.Ala1025Val,ENST00000367170,;NFASC,missense_variant,p.Ala1025Val,ENST00000338515,;NFASC,missense_variant,p.Ala918Val,ENST00000339876,NM_001005388.2;NFASC,missense_variant,p.Ala1025Val,ENST00000338586,;NFASC,missense_variant,p.Ala918Val,ENST00000401399,;NFASC,missense_variant,p.Ala1021Val,ENST00000539706,NM_001160332.1;NFASC,missense_variant,p.Ala1021Val,ENST00000360049,NM_015090.3;NFASC,missense_variant,p.Ala918Val,ENST00000367169,;NFASC,missense_variant,p.Ala1004Val,ENST00000404076,;NFASC,missense_variant,p.Ala1021Val,ENST00000404907,;NFASC,missense_variant,p.Ala1012Val,ENST00000430393,NM_001160331.1;NFASC,missense_variant,p.Ala888Val,ENST00000367173,;NFASC,missense_variant,p.Ala1021Val,ENST00000513543,;NFASC,missense_variant,p.Ala150Val,ENST00000425360,;NFASC,missense_variant,p.Ala44Val,ENST00000413225,;NFASC,non_coding_transcript_exon_variant,,ENST00000495396,;NFASC,non_coding_transcript_exon_variant,,ENST00000404977,;NFASC,non_coding_transcript_exon_variant,,ENST00000492085,;NFASC,non_coding_transcript_exon_variant,,ENST00000468328,;NFASC,downstream_gene_variant,,ENST00000471392,;NFASC,3_prime_UTR_variant,,ENST00000504476,;NFASC,non_coding_transcript_exon_variant,,ENST00000512826,;							MODERATE	2753/3723	A1025V	NFASC_HUMAN			Transcript		unknown(0)	.	ENSP00000344786		CCDS53460.1			1	
CCR6	0	LGGM	GRCh37	6	167550816	167550816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	9	10	.	.	ENST00000341935.5:c.1098C>A	p.Asn366Lys	p.N366K	ENST00000341935	NM_031409.3	366	aaC/aaA	0	1	1	UPI00000008CE	0	NA	ENST00000341935		ENSG00000112486	1607		19	1.78		HGNC	p.N366K		CCR6		SNV			1				ENST00000400926	protein_coding	getma.org/?cm=var&var=hg19,6,167550816,C,A&fts=all		Prints_domain:PR01529,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF24		N/K		A	low	1650/4018		getma.org/?cm=msa&ty=f&p=CCR6_HUMAN&rb=317&re=374&var=N366K	tolerated(0.12)				YES	CCR6,missense_variant,p.Asn366Lys,ENST00000341935,NM_031409.3;CCR6,missense_variant,p.Asn366Lys,ENST00000400926,NM_004367.5;CCR6,missense_variant,p.Asn366Lys,ENST00000349984,;RP11-517H2.6,non_coding_transcript_exon_variant,,ENST00000609590,;							MODERATE	1098/1125	N366K	CCR6_HUMAN			Transcript		benign(0.071)	.	ENSP00000343952		CCDS5298.1			1	
USP48	0	LGGM	GRCh37	1	22063021	22063021	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	28	10	.	.	ENST00000308271.9:c.1089T>A	p.Ser363=	p.S363=	ENST00000308271	NM_032236.5	363	tcT/tcA	0	1	1	UPI0000192195	0		ENST00000308271		ENSG00000090686	18533		38			HGNC	p.S363S		USP48		SNV							ENST00000421625	protein_coding			PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF100,Pfam_domain:PF00443,Superfamily_domains:SSF54001		S		T		1738/4595				E9PRY5_HUMAN,E9PJH5_HUMAN,E9PJ87_HUMAN			YES	USP48,synonymous_variant,p.=,ENST00000308271,NM_032236.5;USP48,synonymous_variant,p.=,ENST00000400301,;USP48,synonymous_variant,p.=,ENST00000529637,;USP48,synonymous_variant,p.=,ENST00000421625,NM_001032730.1;USP48,upstream_gene_variant,,ENST00000534705,;USP48,upstream_gene_variant,,ENST00000526044,;USP48,synonymous_variant,p.=,ENST00000374730,;							LOW	1089/3108		UBP48_HUMAN			Transcript			.	ENSP00000309262		CCDS30623.1			1	
PRUNE2	0	LGGM	GRCh37	9	79321835	79321835	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	32	10	.	.	ENST00000376718.3:c.5355G>A	p.Glu1785=	p.E1785=	ENST00000376718	NM_015225.2	1785	gaG/gaA	0	1	1	UPI0001612CC0	0		ENST00000376718		ENSG00000106772	25209		42			HGNC	p.E1426E	COSM3658491	PRUNE2		SNV						1	ENST00000428286	protein_coding			hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112		E		T		5479/12584							YES	PRUNE2,synonymous_variant,p.=,ENST00000428286,;PRUNE2,synonymous_variant,p.=,ENST00000376718,NM_015225.2;PRUNE2,synonymous_variant,p.=,ENST00000426088,;PRUNE2,upstream_gene_variant,,ENST00000480674,;					1		LOW	5355/9267		PRUN2_HUMAN			Transcript			.	ENSP00000365908		CCDS47982.1			1	
ABAT	0	LGGM	GRCh37	16	8868748	8868748	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	12	10	.	.	ENST00000396600.2:c.956A>G	p.His319Arg	p.H319R	ENST00000396600	NM_000663.4	319	cAt/cGt	0	1		UPI000006D4FC	0	getma.org/pdb.php?prot=GABT_HUMAN&from=76&to=446&var=H319R	ENST00000268251		ENSG00000183044	23		22	1.425		HGNC	p.H319R		ABAT		SNV			1				ENST00000396600	protein_coding	getma.org/?cm=var&var=hg19,16,8868748,A,G&fts=all		Gene3D:3.40.640.10,Pfam_domain:PF00202,PIRSF_domain:PIRSF000521,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF6,Superfamily_domains:SSF53383,TIGRFAM_domain:TIGR00699		H/R		G	low	1144/4836		getma.org/?cm=msa&ty=f&p=GABT_HUMAN&rb=76&re=446&var=H319R	tolerated(0.06)	H3BRJ1_HUMAN,H3BP74_HUMAN				ABAT,missense_variant,p.His319Arg,ENST00000396600,NM_000663.4;ABAT,missense_variant,p.His319Arg,ENST00000268251,NM_020686.5;ABAT,missense_variant,p.His334Arg,ENST00000567812,;ABAT,missense_variant,p.His319Arg,ENST00000425191,NM_001127448.1;ABAT,missense_variant,p.His319Arg,ENST00000569156,;ABAT,splice_region_variant,,ENST00000566590,;							MODERATE	956/1503	H319R	GABT_HUMAN			Transcript		benign(0.091)	.	ENSP00000268251		CCDS10534.1			1	
XCR1	0	LGGM	GRCh37	3	46063256	46063256	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	17	10	.	.	ENST00000309285.3:c.184C>G	p.Leu62Val	p.L62V	ENST00000309285	NM_001024644.1	62	Ctg/Gtg	0	1	1	UPI000004358D	0	getma.org/pdb.php?prot=XCR1_HUMAN&from=48&to=287&var=L62V	ENST00000309285		ENSG00000173578	1625		27	2.91		HGNC	p.L62V		XCR1		SNV							ENST00000309285	protein_coding	getma.org/?cm=var&var=hg19,3,46063256,G,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24227:SF59,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01568		L/V		C	medium	541/5281		getma.org/?cm=msa&ty=f&p=XCR1_HUMAN&rb=48&re=287&var=L62V	deleterious(0)	Q689E2_HUMAN			YES	XCR1,missense_variant,p.Leu62Val,ENST00000309285,NM_001024644.1;XCR1,missense_variant,p.Leu62Val,ENST00000542109,NM_005283.2;XCR1,downstream_gene_variant,,ENST00000395946,;NRBF2P2,upstream_gene_variant,,ENST00000413087,;							MODERATE	184/1002	L62V	XCR1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000310405		CCDS2736.1			1	
APP	0	LGGM	GRCh37	21	27369686	27369686	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	27	10	.	.	ENST00000346798.3:c.1079A>T	p.Asp360Val	p.D360V	ENST00000346798	NM_000484.3	360	gAt/gTt	0	1	1	UPI000002DB1C	0	getma.org/pdb.php?prot=A4_HUMAN&from=343&to=362&var=D360V	ENST00000346798		ENSG00000142192	620		37	-0.55		HGNC	p.D360V		APP		SNV			1				ENST00000358918	protein_coding	getma.org/?cm=var&var=hg19,21,27369686,T,A&fts=all		hmmpanther:PTHR23103,hmmpanther:PTHR23103:SF7		D/V		A	neutral	1113/3467		getma.org/?cm=msa&ty=f&p=A4_HUMAN&rb=313&re=392&var=D360V	tolerated(0.53)	L7XE61_HUMAN,L7XCZ9_HUMAN,B7Z313_HUMAN			YES	APP,missense_variant,p.Asp360Val,ENST00000358918,NM_001204302.1,NM_001204301.1;APP,missense_variant,p.Asp360Val,ENST00000346798,NM_000484.3;APP,missense_variant,p.Asp304Val,ENST00000359726,;APP,missense_variant,p.Asp304Val,ENST00000439274,NM_001136130.2;APP,missense_variant,p.Asp95Val,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,;							MODERATE	1079/2313	D360V	A4_HUMAN			Transcript		benign(0.001)	.	ENSP00000284981		CCDS13576.1			1	
TMEM206	0	LGGM	GRCh37	1	212550912	212550912	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	76	11	.	.	ENST00000535273.1:c.958C>T	p.Arg320Trp	p.R320W	ENST00000535273	NM_001198862.1	320	Cgg/Tgg	0	1		UPI00000736AD	0	NA	ENST00000261455		ENSG00000065600	25593	8.64E-05	87	0.975		HGNC	p.R320W	rs747223607,COSM1560297	TMEM206	0.000121	SNV						0,1	ENST00000535273	protein_coding	getma.org/?cm=var&var=hg19,1,212550912,G,A&fts=all		Pfam_domain:PF15122,hmmpanther:PTHR16087,hmmpanther:PTHR16087:SF0		R/W		A	low	913/2475	6.00E-05	getma.org/?cm=msa&ty=f&p=TM206_HUMAN&rb=33&re=348&var=R259W	deleterious(0)	B4DHQ5_HUMAN				TMEM206,missense_variant,p.Arg259Trp,ENST00000261455,NM_018252.2;TMEM206,missense_variant,p.Arg320Trp,ENST00000535273,NM_001198862.1;TMEM206,non_coding_transcript_exon_variant,,ENST00000467822,;TMEM206,non_coding_transcript_exon_variant,,ENST00000478166,;	0.000462				0,1		MODERATE	775/1053	R259W	TM206_HUMAN			Transcript		probably_damaging(1)	common_variant	ENSP00000261455	9.06E-05	CCDS1504.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102452888	102452888	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	39	11	.	.	ENST00000360184.4:c.2326C>T	p.Pro776Ser	p.P776S	ENST00000360184	NM_001376.4	776	Ccg/Tcg	0	1	1	UPI00001B515A	0	NA	ENST00000360184		ENSG00000197102	2961		50	3.14		HGNC	p.P776S		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102452888,C,T&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF08385		P/S		T	medium	2490/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=238&re=834&var=P776S		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Pro776Ser,ENST00000360184,NM_001376.4;							MODERATE	2326/13941	P776S	DYHC1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000348965		CCDS9966.1			1	
KNOP1	0	LGGM	GRCh37	16	19718438	19718438	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	30	12	.	.	ENST00000219837.7:c.1171A>T	p.Ser391Cys	p.S391C	ENST00000219837	NM_001012991.2	391	Agc/Tgc	0	1	1	UPI00001982F5	0	NA	ENST00000219837		ENSG00000103550	34404		42	1.5		HGNC	p.S70C		KNOP1		SNV							ENST00000568230	protein_coding	getma.org/?cm=var&var=hg19,16,19718438,T,A&fts=all		Pfam_domain:PF15477,hmmpanther:PTHR22426		S/C		A	low	1250/4786		getma.org/?cm=msa&ty=f&p=CP088_HUMAN&rb=305&re=456&var=S391C	deleterious(0)	H3BNU8_HUMAN,H3BMC9_HUMAN			YES	KNOP1,missense_variant,p.Ser391Cys,ENST00000219837,NM_001012991.2;KNOP1,missense_variant,p.Ser70Cys,ENST00000568230,;C16orf62,downstream_gene_variant,,ENST00000542027,;KNOP1,downstream_gene_variant,,ENST00000567367,;AC002550.5,non_coding_transcript_exon_variant,,ENST00000565916,;KNOP1,downstream_gene_variant,,ENST00000565844,;							MODERATE	1171/1377	S391C	KNOP1_HUMAN			Transcript		possibly_damaging(0.569)	.	ENSP00000219837		CCDS42127.1			1	
E2F8	0	LGGM	GRCh37	11	19251060	19251060	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	47	12	.	.	ENST00000527884.1:c.1834G>A	p.Asp612Asn	p.D612N	ENST00000527884	NM_001256372.1	612	Gac/Aac	0	1		UPI00001F9E94	0	NA	ENST00000250024		ENSG00000129173	24727		59	2.08		HGNC	p.D612N		E2F8		SNV							ENST00000250024	protein_coding	getma.org/?cm=var&var=hg19,11,19251060,C,T&fts=all		hmmpanther:PTHR12081:SF40,hmmpanther:PTHR12081		D/N		T	medium	2347/3240		getma.org/?cm=msa&ty=f&p=E2F8_HUMAN&rb=548&re=747&var=D612N	tolerated(0.22)	E9PMT9_HUMAN				E2F8,missense_variant,p.Asp612Asn,ENST00000527884,NM_001256372.1,NM_001256371.1;E2F8,missense_variant,p.Asp612Asn,ENST00000250024,NM_024680.3;RP11-428C19.4,intron_variant,,ENST00000527978,;E2F8,upstream_gene_variant,,ENST00000529188,;							MODERATE	1834/2604	D612N	E2F8_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000250024		CCDS7849.1			1	
ABCA4	0	LGGM	GRCh37	1	94466597	94466597	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	25	13	.	.	ENST00000370225.3:c.6347T>G	p.Ile2116Ser	p.I2116S	ENST00000370225	NM_000350.2	2116	aTc/aGc	0	1	1	UPI000012511C	0	getma.org/pdb.php?prot=ABCA4_HUMAN&from=1938&to=2170&var=I2116S	ENST00000370225		ENSG00000198691	34		38	1.45		HGNC	p.I386S		ABCA4		SNV			1				ENST00000536513	protein_coding	getma.org/?cm=var&var=hg19,1,94466597,A,C&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01257		I/S		C	low	6434/7309		getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=1938&re=2170&var=I2116S	deleterious(0)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN			YES	ABCA4,missense_variant,p.Ile2116Ser,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Ile386Ser,ENST00000536513,;ABCA4,missense_variant,p.Ile235Ser,ENST00000535881,;ABCA4,downstream_gene_variant,,ENST00000465352,;ABCA4,downstream_gene_variant,,ENST00000484388,;							MODERATE	6347/6822	I2116S	ABCA4_HUMAN			Transcript		possibly_damaging(0.501)	.	ENSP00000359245		CCDS747.1			1	
PAM	0	LGGM	GRCh37	5	102364636	102364636	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	14	14	.	.	ENST00000304400.7:c.2792G>T	p.Arg931Leu	p.R931L	ENST00000304400		931	cGt/cTt	0	1		UPI0000001BB7	0	NA	ENST00000438793		ENSG00000145730	8596		28	0.805		HGNC	p.R930L		PAM		SNV							ENST00000438793	protein_coding	getma.org/?cm=var&var=hg19,5,102364636,G,T&fts=all		hmmpanther:PTHR10680,hmmpanther:PTHR10680:SF13		R/L		T	low	3259/5432		getma.org/?cm=msa&ty=f&p=AMD_HUMAN&rb=807&re=973&var=R930L	deleterious(0.02)	D6RG20_HUMAN,D6RF09_HUMAN,D6RDU2_HUMAN,D6RCD5_HUMAN,D6RAQ2_HUMAN,D6R961_HUMAN				PAM,missense_variant,p.Arg930Leu,ENST00000438793,NM_001177306.1,NM_000919.3,NM_138766.2;PAM,missense_variant,p.Arg823Leu,ENST00000348126,NM_138821.2;PAM,missense_variant,p.Arg832Leu,ENST00000274392,;PAM,missense_variant,p.Arg844Leu,ENST00000346918,NM_138822.2;PAM,missense_variant,p.Arg292Leu,ENST00000379787,;PAM,missense_variant,p.Arg931Leu,ENST00000304400,;PAM,missense_variant,p.Arg862Leu,ENST00000455264,;PAM,missense_variant,p.Arg636Leu,ENST00000379799,;PAM,missense_variant,p.Arg207Leu,ENST00000504691,;PAM,non_coding_transcript_exon_variant,,ENST00000504456,;PAM,non_coding_transcript_exon_variant,,ENST00000510006,;PAM,downstream_gene_variant,,ENST00000515456,;PAM,3_prime_UTR_variant,,ENST00000345721,;EIF3KP1,upstream_gene_variant,,ENST00000513279,;							MODERATE	2789/2922	R930L	AMD_HUMAN			Transcript		benign(0.373)	.	ENSP00000396493		CCDS54885.1			1	
KHK	0	LGGM	GRCh37	2	27322409	27322409	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	20	14	.	.	ENST00000260599.6:c.775A>G	p.Thr259Ala	p.T259A	ENST00000260599	NM_000221.2	259	Acc/Gcc	0	1		UPI000002ACC0	0	getma.org/pdb.php?prot=KHK_HUMAN&from=3&to=293&var=T259A	ENST00000260598		ENSG00000138030	6315		34	2.84		HGNC	p.T259A		KHK		SNV			1				ENST00000260598	protein_coding	getma.org/?cm=var&var=hg19,2,27322409,A,G&fts=all		Gene3D:3.40.1190.20,Pfam_domain:PF00294,hmmpanther:PTHR10584,hmmpanther:PTHR10584:SF177,Superfamily_domains:SSF53613		T/A		G	medium	1253/2397		getma.org/?cm=msa&ty=f&p=KHK_HUMAN&rb=3&re=293&var=T259A	deleterious(0)					KHK,missense_variant,p.Thr259Ala,ENST00000260599,NM_000221.2;KHK,missense_variant,p.Thr259Ala,ENST00000260598,NM_006488.2;CGREF1,3_prime_UTR_variant,,ENST00000402550,NM_001166240.1;CGREF1,3_prime_UTR_variant,,ENST00000452318,NM_001166241.1;CGREF1,downstream_gene_variant,,ENST00000402394,NM_006569.5;CGREF1,downstream_gene_variant,,ENST00000312734,;CGREF1,downstream_gene_variant,,ENST00000404694,;CGREF1,downstream_gene_variant,,ENST00000405600,NM_001166239.1;KHK,downstream_gene_variant,,ENST00000429697,;CGREF1,downstream_gene_variant,,ENST00000260595,;KHK,non_coding_transcript_exon_variant,,ENST00000490823,;CGREF1,3_prime_UTR_variant,,ENST00000440612,;KHK,non_coding_transcript_exon_variant,,ENST00000464371,;KHK,downstream_gene_variant,,ENST00000469936,;CGREF1,downstream_gene_variant,,ENST00000467539,;							MODERATE	775/897	T259A	KHK_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260598		CCDS1735.1			1	
DYNC2LI1	0	LGGM	GRCh37	2	44021612	44021612	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	19	14	.	.	ENST00000260605.8:c.337C>G	p.Leu113Val	p.L113V	ENST00000260605	NM_001193464.1	113	Ctc/Gtc	0	1	1	UPI0000044727	0	NA	ENST00000260605		ENSG00000138036	24595		33	1.635		HGNC	p.L113V	rs757227264	DYNC2LI1		SNV							ENST00000260605	protein_coding	getma.org/?cm=var&var=hg19,2,44021612,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF05783,hmmpanther:PTHR13236,Superfamily_domains:SSF52540		L/V		G	low	437/1399	3.01E-05	getma.org/?cm=msa&ty=f&p=DC2L1_HUMAN&rb=2&re=179&var=L113V	tolerated(0.06)	F8W853_HUMAN			YES	DYNC2LI1,missense_variant,p.Leu113Val,ENST00000260605,NM_001193464.1,NM_016008.3;DYNC2LI1,missense_variant,p.Leu113Val,ENST00000605786,;DYNC2LI1,missense_variant,p.Leu97Val,ENST00000378587,;DYNC2LI1,missense_variant,p.Leu113Val,ENST00000406852,NM_015522.3;DYNC2LI1,3_prime_UTR_variant,,ENST00000398823,;DYNC2LI1,5_prime_UTR_variant,,ENST00000443170,;DYNC2LI1,non_coding_transcript_exon_variant,,ENST00000489222,;DYNC2LI1,3_prime_UTR_variant,,ENST00000462426,;DYNC2LI1,3_prime_UTR_variant,,ENST00000479242,;DYNC2LI1,downstream_gene_variant,,ENST00000496980,;							MODERATE	337/1056	L113V	DC2L1_HUMAN			Transcript		possibly_damaging(0.789)	.	ENSP00000260605	1.65E-05	CCDS1813.1			1	
PDSS2	0	LGGM	GRCh37	6	107780305	107780305	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	17	15	.	.	ENST00000369037.4:c.185A>C	p.Tyr62Ser	p.Y62S	ENST00000369037	NM_020381.3	62	tAc/tCc	0	1	1	UPI000013E3B4	0	NA	ENST00000369037		ENSG00000164494	23041		32	1.965		HGNC	p.Y62S		PDSS2		SNV			1				ENST00000453874	protein_coding	getma.org/?cm=var&var=hg19,6,107780305,T,G&fts=all		hmmpanther:PTHR12001,hmmpanther:PTHR12001:SF49,Superfamily_domains:SSF48576		Y/S		G	medium	463/3540		getma.org/?cm=msa&ty=f&p=DLP1_HUMAN&rb=1&re=106&var=Y62S	deleterious(0)	B4DWD3_HUMAN			YES	PDSS2,missense_variant,p.Tyr62Ser,ENST00000369037,NM_020381.3;PDSS2,missense_variant,p.Tyr62Ser,ENST00000453874,;PDSS2,missense_variant,p.Tyr62Ser,ENST00000369031,;							MODERATE	185/1200	Y62S	DLP1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000358033		CCDS5059.1			1	
VPS4A	0	LGGM	GRCh37	16	69354048	69354048	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	24	15	.	.	ENST00000254950.11:c.625G>A	p.Val209Ile	p.V209I	ENST00000254950	NM_013245.2	209	Gtc/Atc	0	1	1	UPI000000DC7F	0	getma.org/pdb.php?prot=VPS4A_HUMAN&from=163&to=293&var=V209I	ENST00000254950		ENSG00000132612	13488		39	0.425		HGNC	p.V233I		VPS4A		SNV							ENST00000570054	protein_coding	getma.org/?cm=var&var=hg19,16,69354048,G,A&fts=all		hmmpanther:PTHR23074,hmmpanther:PTHR23074:SF82,Gene3D:3.40.50.300,Pfam_domain:PF00004,SMART_domains:SM00382,Superfamily_domains:SSF52540		V/I		A	neutral	781/2203		getma.org/?cm=msa&ty=f&p=VPS4A_HUMAN&rb=163&re=293&var=V209I	tolerated(0.09)	Q9UF30_HUMAN			YES	VPS4A,missense_variant,p.Val209Ile,ENST00000254950,NM_013245.2;RP11-343C2.11,missense_variant,p.Val233Ile,ENST00000570054,;COG8,downstream_gene_variant,,ENST00000562595,;COG8,non_coding_transcript_exon_variant,,ENST00000564419,;VPS4A,upstream_gene_variant,,ENST00000564399,;VPS4A,non_coding_transcript_exon_variant,,ENST00000562754,;VPS4A,upstream_gene_variant,,ENST00000566354,;							MODERATE	625/1314	V209I	VPS4A_HUMAN			Transcript		benign(0.222)	.	ENSP00000254950		CCDS45517.1			1	
EXOSC4	0	LGGM	GRCh37	8	145134870	145134870	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	44	15	.	.	ENST00000316052.5:c.196C>T	p.Leu66=	p.L66=	ENST00000316052	NM_019037.2	66	Ctg/Ttg	0	1	1	UPI0000000C49	0		ENST00000316052		ENSG00000178896	18189		59			HGNC	p.L66L		EXOSC4		SNV							ENST00000525936	protein_coding			Gene3D:1e3hA01,Pfam_domain:PF01138,hmmpanther:PTHR11953,hmmpanther:PTHR11953:SF0,Superfamily_domains:SSF54211		L		T		299/887							YES	EXOSC4,synonymous_variant,p.=,ENST00000527954,;EXOSC4,synonymous_variant,p.=,ENST00000316052,NM_019037.2;EXOSC4,synonymous_variant,p.=,ENST00000525936,;GPAA1,upstream_gene_variant,,ENST00000355091,NM_003801.3;GPAA1,upstream_gene_variant,,ENST00000361036,;GPAA1,upstream_gene_variant,,ENST00000525087,;GPAA1,upstream_gene_variant,,ENST00000524418,;GPAA1,upstream_gene_variant,,ENST00000530258,;CTD-3065J16.9,upstream_gene_variant,,ENST00000524499,;GPAA1,upstream_gene_variant,,ENST00000527144,;GPAA1,upstream_gene_variant,,ENST00000526341,;GPAA1,upstream_gene_variant,,ENST00000526233,;GPAA1,upstream_gene_variant,,ENST00000529638,;GPAA1,upstream_gene_variant,,ENST00000534072,;GPAA1,upstream_gene_variant,,ENST00000532758,;GPAA1,upstream_gene_variant,,ENST00000528073,;GPAA1,upstream_gene_variant,,ENST00000530796,;GPAA1,upstream_gene_variant,,ENST00000525308,;GPAA1,upstream_gene_variant,,ENST00000529503,;GPAA1,upstream_gene_variant,,ENST00000527653,;GPAA1,upstream_gene_variant,,ENST00000530633,;GPAA1,upstream_gene_variant,,ENST00000531593,;							LOW	196/738		EXOS4_HUMAN			Transcript			.	ENSP00000315476		CCDS6414.1			1	
ZBTB38	0	LGGM	GRCh37	3	141163402	141163402	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	35	15	.	.	ENST00000514251.1:c.2172A>T	p.Ser724=	p.S724=	ENST00000514251		724	tcA/tcT	0	1		UPI0002064F68	0		ENST00000321464		ENSG00000177311	26636		50			HGNC	p.S724S		ZBTB38		SNV			1				ENST00000441582	protein_coding			hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF23		S		T		2222/3650				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				ZBTB38,synonymous_variant,p.=,ENST00000514251,;ZBTB38,synonymous_variant,p.=,ENST00000441582,;ZBTB38,synonymous_variant,p.=,ENST00000321464,;ZBTB38,synonymous_variant,p.=,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,;							LOW	2175/3591					Transcript			.	ENSP00000372635					1	
SLC34A2	0	LGGM	GRCh37	4	25677958	25677958	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	41	17	.	.	ENST00000382051.3:c.1660G>A	p.Val554Met	p.V554M	ENST00000382051	NM_006424.2	554	Gtg/Atg	0	1	1	UPI000013DF24	0	NA	ENST00000382051		ENSG00000157765	11020		58	2.795		HGNC	p.V553M		SLC34A2		SNV			1				ENST00000504570	protein_coding	getma.org/?cm=var&var=hg19,4,25677958,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,TIGRFAM_domain:TIGR01013,hmmpanther:PTHR10010,hmmpanther:PTHR10010:SF23		V/M		A	medium	1710/4122		getma.org/?cm=msa&ty=f&p=NPT2B_HUMAN&rb=520&re=690&var=V554M	deleterious(0)	D6RBC0_HUMAN			YES	SLC34A2,missense_variant,p.Val554Met,ENST00000382051,NM_006424.2,NM_001177998.1;SLC34A2,missense_variant,p.Val553Met,ENST00000503434,NM_001177999.1;SLC34A2,missense_variant,p.Val553Met,ENST00000504570,;RP11-302F12.1,upstream_gene_variant,,ENST00000496507,;							MODERATE	1660/2073	V554M	NPT2B_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000371483		CCDS3435.1			1	
SUPT6H	0	LGGM	GRCh37	17	27005197	27005197	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	34	17	.	.	ENST00000314616.6:c.1103A>G	p.Asn368Ser	p.N368S	ENST00000314616	NM_003170.3	368	aAt/aGt	0	1	1	UPI000015FFA7	0	getma.org/pdb.php?prot=SPT6H_HUMAN&from=268&to=467&var=N368S	ENST00000314616		ENSG00000109111	11470		51	1.81		HGNC	p.N368S		SUPT6H		SNV							ENST00000314616	protein_coding	getma.org/?cm=var&var=hg19,17,27005197,A,G&fts=all		Superfamily_domains:0054854,PIRSF_domain:PIRSF036947,Pfam_domain:PF14641,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145		N/S		G	low	1386/6518		getma.org/?cm=msa&ty=f&p=SPT6H_HUMAN&rb=268&re=467&var=N368S	deleterious(0)	J3QS64_HUMAN			YES	SUPT6H,missense_variant,p.Asn368Ser,ENST00000314616,NM_003170.3;SUPT6H,missense_variant,p.Asn368Ser,ENST00000347486,;SUPT6H,downstream_gene_variant,,ENST00000577713,;SUPT6H,upstream_gene_variant,,ENST00000577939,;SUPT6H,downstream_gene_variant,,ENST00000584312,;SUPT6H,downstream_gene_variant,,ENST00000584285,;							MODERATE	1103/5181	N368S	SPT6H_HUMAN			Transcript		possibly_damaging(0.688)	.	ENSP00000319104		CCDS32596.1			1	
SMG1	0	LGGM	GRCh37	16	18847308	18847308	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	57	18	.	.	ENST00000446231.2:c.8004G>C	p.Met2668Ile	p.M2668I	ENST00000446231		2668	atG/atC	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		75	0.345		HGNC	p.M2668I		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18847308,C,G&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59		M/I		G	neutral	8417/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2628&re=2827&var=M2668I	deleterious(0.04)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Met2668Ile,ENST00000446231,;SMG1,missense_variant,p.Met2668Ile,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Met2558Ile,ENST00000565324,;SMG1,downstream_gene_variant,,ENST00000563448,;							MODERATE	8004/10986	M2668I	SMG1_HUMAN			Transcript		benign(0.011)	.	ENSP00000402515		CCDS45430.1			1	
GCOM1	0	LGGM	GRCh37	15	57925895	57925895	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	41	22	.	.	ENST00000267853.5:c.889C>G	p.Gln297Glu	p.Q297E	ENST00000267853		297	Cag/Gag	0	1		UPI0000375B72	0	NA	ENST00000380569		ENSG00000137878	26424		63	1.04		HGNC	p.Q297E		GCOM1		SNV							ENST00000380568	protein_coding	getma.org/?cm=var&var=hg19,15,57925895,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF2,Pfam_domain:PF15328		Q/E		G	low	1016/1846		getma.org/?cm=msa&ty=f&p=MYZAP_HUMAN&rb=201&re=400&var=Q297E	tolerated(0.07)				YES	GCOM1,missense_variant,p.Gln297Glu,ENST00000574161,NM_001018100.3;MYZAP,missense_variant,p.Gln297Glu,ENST00000267853,;GCOM1,missense_variant,p.Gln297Glu,ENST00000587652,;GCOM1,missense_variant,p.Gln297Glu,ENST00000572390,NM_152451.6;MYZAP,missense_variant,p.Gln297Glu,ENST00000380565,;GCOM1,missense_variant,p.Gln297Glu,ENST00000380569,NM_001018090.4;GCOM1,missense_variant,p.Gln297Glu,ENST00000380568,NM_001018091.4;GCOM1,missense_variant,p.Gln266Glu,ENST00000396180,;GCOM1,missense_variant,p.Gln266Glu,ENST00000380561,;GCOM1,missense_variant,p.Gln228Glu,ENST00000380560,;MYZAP,missense_variant,p.Gln12Glu,ENST00000461709,;POLR2M,5_prime_UTR_variant,,ENST00000380563,;GCOM1,missense_variant,p.Gln297Glu,ENST00000460962,;GCOM1,missense_variant,p.Gln297Glu,ENST00000488175,;GCOM1,missense_variant,p.Gln266Glu,ENST00000468886,;GCOM1,missense_variant,p.Gln297Glu,ENST00000496627,;GCOM1,missense_variant,p.Gln228Glu,ENST00000471563,;GCOM1,missense_variant,p.Gln266Glu,ENST00000496101,;GCOM1,missense_variant,p.Gln297Glu,ENST00000463717,;GCOM1,missense_variant,p.Gln297Glu,ENST00000482814,;GCOM1,missense_variant,p.Gln297Glu,ENST00000477282,;							MODERATE	889/1653	Q297E				Transcript		benign(0.007)	.	ENSP00000369943		CCDS32247.1			1	
PTPRB	0	LGGM	GRCh37	12	70932710	70932710	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	28	23	.	.	ENST00000334414.6:c.5863T>C	p.Leu1955=	p.L1955=	ENST00000334414	NM_001109754.2	1955	Ttg/Ctg	0	1		UPI00001FC788	0		ENST00000261266		ENSG00000127329	9665		51			HGNC	p.L1955L	rs770788684	PTPRB		SNV							ENST00000334414	protein_coding			Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00194,Superfamily_domains:SSF52799		L		G		5239/6110	1.83E-05							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.=,ENST00000538708,NM_001206972.1;PTPRB,synonymous_variant,p.=,ENST00000550857,;RP11-588H23.3,non_coding_transcript_exon_variant,,ENST00000548687,;RP11-588H23.3,downstream_gene_variant,,ENST00000546836,;RP11-588H23.3,downstream_gene_variant,,ENST00000551438,;RP11-588H23.3,downstream_gene_variant,,ENST00000549460,;RP11-588H23.3,downstream_gene_variant,,ENST00000547656,;PTPRB,downstream_gene_variant,,ENST00000549400,;							LOW	5209/5994		PTPRB_HUMAN			Transcript			.	ENSP00000261266	8.28E-06	CCDS44944.1			1	
USP40	0	LGGM	GRCh37	2	234468524	234468524	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	78	24	.	.	ENST00000450966.1:c.350T>C	p.Leu117Pro	p.L117P	ENST00000450966	NM_018218.2	117	cTg/cCg	0	1		UPI00004C8020	0	getma.org/pdb.php?prot=UBP40_HUMAN&from=38&to=479&var=L105P	ENST00000251722		ENSG00000085982	20069		102	2.83		HGNC	p.L105P		USP40		SNV							ENST00000251722	protein_coding	getma.org/?cm=var&var=hg19,2,234468524,A,G&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF423,PROSITE_profiles:PS50235		L/P		G	medium	432/5692		getma.org/?cm=msa&ty=f&p=UBP40_HUMAN&rb=38&re=479&var=L105P	deleterious(0)					USP40,missense_variant,p.Leu105Pro,ENST00000251722,;USP40,missense_variant,p.Leu117Pro,ENST00000450966,NM_018218.2;USP40,missense_variant,p.Leu105Pro,ENST00000427112,;USP40,downstream_gene_variant,,ENST00000443711,;USP40,non_coding_transcript_exon_variant,,ENST00000484528,;USP40,non_coding_transcript_exon_variant,,ENST00000427947,;							MODERATE	314/3708	L105P	UBP40_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000251722					1	
BOC	0	LGGM	GRCh37	3	113002408	113002408	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	26	24	.	.	ENST00000495514.1:c.2582T>C	p.Val861Ala	p.V861A	ENST00000495514		861	gTc/gCc	0	1		UPI0000072E0E	0	NA	ENST00000355385		ENSG00000144857	17173		50	2.39		HGNC	p.V861A		BOC		SNV							ENST00000355385	protein_coding	getma.org/?cm=var&var=hg19,3,113002408,T,C&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		V/A		C	medium	2921/4278		getma.org/?cm=msa&ty=f&p=BOC_HUMAN&rb=803&re=1002&var=V861A	deleterious(0)	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,missense_variant,p.Val861Ala,ENST00000495514,;BOC,missense_variant,p.Val861Ala,ENST00000355385,NM_033254.2;BOC,missense_variant,p.Val862Ala,ENST00000273395,;WDR52,downstream_gene_variant,,ENST00000393845,NM_001164496.1;BOC,upstream_gene_variant,,ENST00000473008,;BOC,downstream_gene_variant,,ENST00000497495,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;WDR52,downstream_gene_variant,,ENST00000489244,;BOC,downstream_gene_variant,,ENST00000463971,;BOC,upstream_gene_variant,,ENST00000488486,;							MODERATE	2582/3345	V861A	BOC_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000347546		CCDS2971.1			1	
TSC2	0	LGGM	GRCh37	16	2115590	2115590	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	23	25	.	.	ENST00000219476.3:c.1670T>A	p.Leu557Ter	p.L557*	ENST00000219476	NM_000548.3	557	tTg/tAg	0	1	1	UPI000013C781	0	NA	ENST00000219476		ENSG00000103197	12363		48	0		HGNC	p.L557X		TSC2		SNV			1				ENST00000350773	protein_coding	getma.org/?cm=var&var=hg19,16,2115590,T,A&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF1,Pfam_domain:PF03542,Superfamily_domains:SSF48371		L/*		A	NA	2300/6156		NA					YES	TSC2,stop_gained,p.Leu557Ter,ENST00000219476,NM_000548.3;TSC2,stop_gained,p.Leu557Ter,ENST00000350773,NM_001114382.1;TSC2,stop_gained,p.Leu557Ter,ENST00000353929,;TSC2,stop_gained,p.Leu568Ter,ENST00000568454,;TSC2,stop_gained,p.Leu557Ter,ENST00000401874,NM_001077183.1;TSC2,stop_gained,p.Leu520Ter,ENST00000439673,;TSC2,stop_gained,p.Leu508Ter,ENST00000382538,;TSC2,downstream_gene_variant,,ENST00000467949,;TSC2,upstream_gene_variant,,ENST00000562474,;TSC2,3_prime_UTR_variant,,ENST00000439117,;TSC2,3_prime_UTR_variant,,ENST00000568566,;TSC2,non_coding_transcript_exon_variant,,ENST00000488675,;TSC2,non_coding_transcript_exon_variant,,ENST00000490108,;TSC2,downstream_gene_variant,,ENST00000463601,;TSC2,downstream_gene_variant,,ENST00000568238,;							HIGH	1670/5424	L557*	TSC2_HUMAN			Transcript			.	ENSP00000219476		CCDS10458.1			1	
USP32	0	LGGM	GRCh37	17	58259003	58259003	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	38	26	.	.	ENST00000300896.4:c.4230G>T	p.Arg1410=	p.R1410=	ENST00000300896	NM_032582.3	1410	cgG/cgT	0	1	1	UPI0000047AF8	0		ENST00000300896		ENSG00000170832	19143		64			HGNC	p.R1410R		USP32		SNV							ENST00000300896	protein_coding			Pfam_domain:PF00443,hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006,PROSITE_profiles:PS50235		R		A		4425/5171				Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN			YES	USP32,synonymous_variant,p.=,ENST00000300896,NM_032582.3;USP32,synonymous_variant,p.=,ENST00000592339,;USP32,synonymous_variant,p.=,ENST00000593071,;USP32,downstream_gene_variant,,ENST00000586238,;							LOW	4230/4815		UBP32_HUMAN			Transcript			.	ENSP00000300896		CCDS32697.1			1	
CACNB4	0	LGGM	GRCh37	2	152698432	152698432	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110104	H110104N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	58	29	.	.	ENST00000539935.1:c.1287A>G	p.Ala429=	p.A429=	ENST00000539935	NM_001145798.1	429	gcA/gcG	0	1	1	UPI0000208F1E	0		ENST00000539935		ENSG00000182389	1404		87			HGNC	p.A395A		CACNB4		SNV			1				ENST00000534999	protein_coding			hmmpanther:PTHR11824:SF7,hmmpanther:PTHR11824		A		C		1355/7974				Q9NZA2_HUMAN,Q580I4_HUMAN,Q53S65_HUMAN			YES	CACNB4,synonymous_variant,p.=,ENST00000360283,;CACNB4,synonymous_variant,p.=,ENST00000539935,NM_001145798.1,NM_000726.3;CACNB4,synonymous_variant,p.=,ENST00000397327,;CACNB4,synonymous_variant,p.=,ENST00000534999,NM_001005747.2;CACNB4,synonymous_variant,p.=,ENST00000439467,;CACNB4,synonymous_variant,p.=,ENST00000427385,NM_001005746.2;CACNB4,intron_variant,,ENST00000201943,;							LOW	1287/1563		CACB4_HUMAN			Transcript			.	ENSP00000438949		CCDS46426.1			1	
FGA	0	LGGM	GRCh37	4	155505681	155505681	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	64	29	.	.	ENST00000302053.3:c.2196T>C	p.Ala732=	p.A732=	ENST00000302053	NM_000508.3	732	gcT/gcC	0	1	1	UPI000012A75A	0		ENST00000302053		ENSG00000171560	3661		93			HGNC	p.A732A		FGA		SNV			1				ENST00000302053	protein_coding			Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,SMART_domains:SM00186,Superfamily_domains:SSF56496		A		G		2275/3678				Q86Z09_HUMAN			YES	FGA,synonymous_variant,p.=,ENST00000302053,NM_000508.3;FGA,downstream_gene_variant,,ENST00000403106,NM_021871.2;							LOW	2196/2601		FIBA_HUMAN			Transcript			.	ENSP00000306361		CCDS3787.1			1	
IFNA4	0	LGGM	GRCh37	9	21187400	21187400	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110104	H110104N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	53	30	.	.	ENST00000421715.1:c.131T>A	p.Met44Lys	p.M44K	ENST00000421715	NM_021068.2	44	aTg/aAg	0	1	1	UPI000002BA77	0	getma.org/pdb.php?prot=IFNA4_HUMAN&from=26&to=187&var=M44K	ENST00000421715		ENSG00000236637	5425		83	3.615		HGNC	p.M44K		IFNA4		SNV							ENST00000421715	protein_coding	getma.org/?cm=var&var=hg19,9,21187400,A,T&fts=all		Superfamily_domains:SSF47266,Pfam_domain:PF00143,Gene3D:1.20.1250.10,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF29		M/K		T	high	199/982		getma.org/?cm=msa&ty=f&p=IFNA4_HUMAN&rb=26&re=187&var=M44K	deleterious(0)	Q9UMJ2_HUMAN			YES	IFNA4,missense_variant,p.Met44Lys,ENST00000421715,NM_021068.2;IFNWP9,downstream_gene_variant,,ENST00000448683,;							MODERATE	131/570	M44K	IFNA4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000412897		CCDS6498.1			1	
TTN	0	LGGM	GRCh37	2	179401216	179401216	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	55	30	.	.	ENST00000589042.1:c.100258G>A	p.Gly33420Arg	p.G33420R	ENST00000589042	NM_001267550.1	33420	Gga/Aga	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=31753&to=31838&var=G31779R	ENST00000591111		ENSG00000155657	12403		85	3.25		HGNC	p.G24480R		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179401216,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		G/R		T	medium	95560/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=31753&re=31838&var=G31779R		C9JQJ2_HUMAN				TTN,missense_variant,p.Gly33420Arg,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Gly31779Arg,ENST00000591111,;TTN,missense_variant,p.Gly30852Arg,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Gly24547Arg,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Gly24480Arg,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Gly24355Arg,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,,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,,ENST00000442329,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000587568,;TTN-AS1,downstream_gene_variant,,ENST00000604571,;TTN-AS1,downstream_gene_variant,,ENST00000589355,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;							MODERATE	95335/103053	G31779R	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ANO3	0	LGGM	GRCh37	11	26463598	26463598	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110104	H110104N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	41	30	.	.	ENST00000256737.3:c.180C>A	p.Thr60=	p.T60=	ENST00000256737	NM_031418.2	60	acC/acA	0	1	1	UPI00001F9ED8	0		ENST00000256737		ENSG00000134343	14004		71			HGNC	p.T60T		ANO3		SNV			1				ENST00000531646	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12308:SF16,hmmpanther:PTHR12308		T		A		1032/6642				E9PQ79_HUMAN,B7Z3F5_HUMAN,B7Z3A8_HUMAN			YES	ANO3,synonymous_variant,p.=,ENST00000256737,NM_031418.2;ANO3,synonymous_variant,p.=,ENST00000537978,;ANO3,synonymous_variant,p.=,ENST00000525139,;ANO3,synonymous_variant,p.=,ENST00000531646,;							LOW	180/2946		ANO3_HUMAN			Transcript			.	ENSP00000256737		CCDS31447.1			1	
PTCHD4	0	LGGM	GRCh37	6	47847130	47847130	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	98	36	.	.	ENST00000339488.4:c.1450C>A	p.Gln484Lys	p.Q484K	ENST00000339488	NM_001013732.3	484	Cag/Aag	0	1	1	UPI000179A8D3	0	NA	ENST00000339488		ENSG00000244694	21345		134	2.085		HGNC	p.Q484K	rs767935619	PTCHD4	6.10E-05	SNV							ENST00000339488	protein_coding	getma.org/?cm=var&var=hg19,6,47847130,G,T&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF15,Pfam_domain:PF02460		Q/K		T	medium	1484/2850		getma.org/?cm=msa&ty=f&p=PTHD4_HUMAN&rb=401&re=600&var=Q484K	deleterious(0)	B2RPC0_HUMAN			YES	PTCHD4,missense_variant,p.Gln484Lys,ENST00000339488,NM_001013732.3;							MODERATE	1450/2541	Q484K	PTHD4_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000341914	8.24E-06	CCDS34473.2			1	
CGN	0	LGGM	GRCh37	1	151491423	151491423	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110104	H110104N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110104N.bam, H110104T.bam	Illumina HiSeq	25	40	.	.	ENST00000271636.7:c.428G>T	p.Gly143Val	p.G143V	ENST00000271636	NM_020770.2	143	gGc/gTc	0	1	1	UPI0000161C1E	0	NA	ENST00000271636		ENSG00000143375	17429		65	1.79		HGNC	p.G143V		CGN		SNV							ENST00000271636	protein_coding	getma.org/?cm=var&var=hg19,1,151491423,G,T&fts=all				G/V		T	low	561/5091		getma.org/?cm=msa&ty=f&p=CING_HUMAN&rb=1&re=200&var=G137V	tolerated(0.09)	A6PVU7_HUMAN,A2A3M4_HUMAN			YES	CGN,missense_variant,p.Gly143Val,ENST00000271636,NM_020770.2;CGN,missense_variant,p.Gly143Val,ENST00000427934,;CGN,missense_variant,p.Gly143Val,ENST00000502442,;CGN,missense_variant,p.Gly143Val,ENST00000505188,;CGN,upstream_gene_variant,,ENST00000416743,;							MODERATE	428/3612	G137V	CING_HUMAN			Transcript		benign(0.009)	.	ENSP00000271636		CCDS999.1			1	
SLC6A3	0	LGGM	GRCh37	5	1401089	1401089	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	1	2	.	.	ENST00000270349.9:c.1780G>A	p.Ala594Thr	p.A594T	ENST00000270349	NM_001044.4	594	Gcc/Acc	0	1	1	UPI000013548F	0	NA	ENST00000270349		ENSG00000142319	11049		3	0.55		HGNC	p.A594T		SLC6A3		SNV			1				ENST00000453492	protein_coding	getma.org/?cm=var&var=hg19,5,1401089,C,T&fts=all		hmmpanther:PTHR11616:SF38,hmmpanther:PTHR11616		A/T		T	neutral	1908/3932		getma.org/?cm=msa&ty=f&p=SC6A3_HUMAN&rb=584&re=620&var=A594T	tolerated(0.22)	Q6LC27_HUMAN,H0YBA7_HUMAN			YES	SLC6A3,missense_variant,p.Ala594Thr,ENST00000270349,NM_001044.4;SLC6A3,missense_variant,p.Ala594Thr,ENST00000453492,;SLC6A3,missense_variant,p.Ala55Thr,ENST00000512002,;							MODERATE	1780/1863	A594T	SC6A3_HUMAN			Transcript		benign(0.043)	.	ENSP00000270349		CCDS3863.1			1	
FRMD6	0	LGGM	GRCh37	14	52156649	52156649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	12	2	.	.	ENST00000344768.5:c.95T>C	p.Ile32Thr	p.I32T	ENST00000344768		32	aTa/aCa	0	1	1	UPI00000473F6	0	NA	ENST00000344768		ENSG00000139926	19839		14	1.04		HGNC	p.I32T		FRMD6		SNV							ENST00000356218	protein_coding	getma.org/?cm=var&var=hg19,14,52156649,T,C&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF9,Gene3D:3.10.20.90,Pfam_domain:PF09379,SMART_domains:SM00295,Superfamily_domains:SSF54236		I/T		C	low	291/2972		getma.org/?cm=msa&ty=f&p=FRMD6_HUMAN&rb=20&re=117&var=I32T	deleterious(0)	G3V517_HUMAN,G3V3V8_HUMAN			YES	FRMD6,missense_variant,p.Ile32Thr,ENST00000395718,NM_001267046.1,NM_152330.3;FRMD6,missense_variant,p.Ile32Thr,ENST00000356218,NM_001042481.2;FRMD6,missense_variant,p.Ile32Thr,ENST00000344768,;FRMD6,missense_variant,p.Ile32Thr,ENST00000554778,;RNA5SP385,upstream_gene_variant,,ENST00000515947,;FRMD6,downstream_gene_variant,,ENST00000556137,;							MODERATE	95/1869	I32T	FRMD6_HUMAN			Transcript		benign(0.328)	.	ENSP00000343899		CCDS58318.1			1	
SCYL1	0	LGGM	GRCh37	11	65300260	65300260	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	14	2	.	.	ENST00000270176.5:c.1214G>T	p.Arg405Leu	p.R405L	ENST00000270176	NM_020680.3	405	cGg/cTg	0	1	1	UPI0000035B94	0	NA	ENST00000270176		ENSG00000142186	14372		16	3.085		HGNC	p.R405L		SCYL1		SNV							ENST00000420247	protein_coding	getma.org/?cm=var&var=hg19,11,65300260,G,T&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR12984:SF3,hmmpanther:PTHR12984		R/L		T	medium	1291/2642		getma.org/?cm=msa&ty=f&p=NTKL_HUMAN&rb=250&re=449&var=R405L	deleterious(0)	E9PPN3_HUMAN			YES	SCYL1,missense_variant,p.Arg405Leu,ENST00000524944,;SCYL1,missense_variant,p.Arg405Leu,ENST00000270176,NM_020680.3;SCYL1,missense_variant,p.Arg262Leu,ENST00000527009,;SCYL1,missense_variant,p.Arg405Leu,ENST00000525364,;SCYL1,missense_variant,p.Arg405Leu,ENST00000420247,NM_001048218.1;SCYL1,missense_variant,p.Arg405Leu,ENST00000533862,;SCYL1,missense_variant,p.Arg405Leu,ENST00000279270,;SCYL1,upstream_gene_variant,,ENST00000528545,;SCYL1,missense_variant,p.Arg15Leu,ENST00000531601,;SCYL1,non_coding_transcript_exon_variant,,ENST00000529178,;SCYL1,upstream_gene_variant,,ENST00000526454,;SCYL1,upstream_gene_variant,,ENST00000524897,;SCYL1,upstream_gene_variant,,ENST00000529981,;							MODERATE	1214/2427	R405L	NTKL_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000270176		CCDS41672.1			1	
TTC40	0	LGGM	GRCh37	10	134722106	134722106	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	11	2	.	.	ENST00000368586.5:c.2790G>T	p.Ser930=	p.S930=	ENST00000368586	NM_001200049.2	930	tcG/tcT	0	1	1	UPI0001B79116	0		ENST00000368586		ENSG00000171811	25247		13			HGNC	p.S930S		TTC40		SNV							ENST00000368586	protein_coding			hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977		S		A		2891/8278							YES	TTC40,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;TTC40,synonymous_variant,p.=,ENST00000368582,;TTC40,non_coding_transcript_exon_variant,,ENST00000486104,;TTC40,non_coding_transcript_exon_variant,,ENST00000466834,;							LOW	2790/8148		TTC40_HUMAN			Transcript			.	ENSP00000357575		CCDS58101.1			1	
AFAP1L2	0	LGGM	GRCh37	10	116067566	116067566	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	10	2	.	.	ENST00000304129.4:c.1070C>G	p.Ser357Cys	p.S357C	ENST00000304129	NM_001287824.1	357	tCc/tGc	0	1	1	UPI0000071FAF	0	getma.org/pdb.php?prot=AF1L2_HUMAN&from=354&to=444&var=S357C	ENST00000304129		ENSG00000169129	25901		12	0.625		HGNC	p.S357C		AFAP1L2		SNV							ENST00000369271	protein_coding	getma.org/?cm=var&var=hg19,10,116067566,G,C&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR14338:SF4,hmmpanther:PTHR14338,SMART_domains:SM00233,Superfamily_domains:SSF50729		S/C		C	neutral	1100/3705		getma.org/?cm=msa&ty=f&p=AF1L2_HUMAN&rb=354&re=444&var=S357C	tolerated(0.53)				YES	AFAP1L2,missense_variant,p.Ser357Cys,ENST00000369271,NM_032550.2,NM_001001936.1;AFAP1L2,missense_variant,p.Ser357Cys,ENST00000304129,NM_001287824.1;AFAP1L2,missense_variant,p.Ser410Cys,ENST00000545353,;AFAP1L2,downstream_gene_variant,,ENST00000419268,;AFAP1L2,upstream_gene_variant,,ENST00000486300,;							MODERATE	1070/2457	S357C	AF1L2_HUMAN			Transcript		benign(0.072)	.	ENSP00000303042		CCDS31286.1			1	
USP32	0	LGGM	GRCh37	17	58292102	58292102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	14	2	.	.	ENST00000300896.4:c.1901G>T	p.Arg634Leu	p.R634L	ENST00000300896	NM_032582.3	634	cGg/cTg	0	1	1	UPI0000047AF8	0	NA	ENST00000300896		ENSG00000170832	19143		16	1.87		HGNC	p.R631L	rs750820136	USP32		SNV							ENST00000590133	protein_coding	getma.org/?cm=var&var=hg19,17,58292102,C,A&fts=all		hmmpanther:PTHR24006:SF392,hmmpanther:PTHR24006		R/L		A	low	2096/5171		getma.org/?cm=msa&ty=f&p=UBP32_HUMAN&rb=587&re=730&var=R634L	deleterious(0)	Q86WP5_HUMAN,Q6IRT0_HUMAN,Q4VC15_HUMAN,K7EQL6_HUMAN			YES	USP32,missense_variant,p.Arg634Leu,ENST00000300896,NM_032582.3;USP32,missense_variant,p.Arg304Leu,ENST00000592339,;USP32,missense_variant,p.Arg631Leu,ENST00000590133,;USP32,missense_variant,p.Arg179Leu,ENST00000591768,;USP32,downstream_gene_variant,,ENST00000587651,;USP32,downstream_gene_variant,,ENST00000589552,;							MODERATE	1901/4815	R634L	UBP32_HUMAN			Transcript		benign(0.366)	.	ENSP00000300896	8.24E-06	CCDS32697.1			1	
RELL2	0	LGGM	GRCh37	5	141019071	141019071	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	23	3	.	.	ENST00000297164.3:c.358C>A	p.His120Asn	p.H120N	ENST00000297164	NM_173828.4	120	Cat/Aat	0	1	1	UPI00000733D0	0	NA	ENST00000297164		ENSG00000164620	26902		26	2.165		HGNC	p.H54N		RELL2		SNV							ENST00000518856	protein_coding	getma.org/?cm=var&var=hg19,5,141019071,C,A&fts=all		hmmpanther:PTHR31481		H/N		A	medium	1558/2520		getma.org/?cm=msa&ty=f&p=RELL2_HUMAN&rb=65&re=264&var=H120N	deleterious(0)	E5RFS6_HUMAN			YES	RELL2,missense_variant,p.His120Asn,ENST00000297164,NM_173828.4;RELL2,missense_variant,p.His120Asn,ENST00000444782,NM_001130029.1;RELL2,missense_variant,p.His54Asn,ENST00000521367,;RELL2,missense_variant,p.His54Asn,ENST00000518856,;FCHSD1,3_prime_UTR_variant,,ENST00000435817,NM_033449.2;FCHSD1,downstream_gene_variant,,ENST00000522126,;FCHSD1,downstream_gene_variant,,ENST00000522783,;HDAC3,upstream_gene_variant,,ENST00000305264,NM_003883.3;HDAC3,upstream_gene_variant,,ENST00000523088,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000523856,;RELL2,non_coding_transcript_exon_variant,,ENST00000518025,;RELL2,non_coding_transcript_exon_variant,,ENST00000517794,;RELL2,intron_variant,,ENST00000520674,;FCHSD1,downstream_gene_variant,,ENST00000518160,;FCHSD1,non_coding_transcript_exon_variant,,ENST00000520747,;HDAC3,upstream_gene_variant,,ENST00000469550,;HDAC3,upstream_gene_variant,,ENST00000492506,;HDAC3,upstream_gene_variant,,ENST00000495485,;HDAC3,upstream_gene_variant,,ENST00000519474,;HDAC3,upstream_gene_variant,,ENST00000471968,;							MODERATE	358/912	H120N	RELL2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000297164		CCDS4265.1			1	
SPRED2	0	LGGM	GRCh37	2	65541091	65541091	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	29	3	.	.	ENST00000356388.4:c.801C>G	p.Pro267=	p.P267=	ENST00000356388	NM_181784.2	267	ccC/ccG	0	1	1	UPI000013E7B4	0		ENST00000356388		ENSG00000198369	17722		32			HGNC	p.P267P		SPRED2		SNV							ENST00000356388	protein_coding			hmmpanther:PTHR11202,hmmpanther:PTHR11202:SF11		P		C		991/4097				C9J623_HUMAN			YES	SPRED2,synonymous_variant,p.=,ENST00000356388,NM_181784.2;SPRED2,synonymous_variant,p.=,ENST00000443619,NM_001128210.1;SPRED2,synonymous_variant,p.=,ENST00000452315,;SPRED2,synonymous_variant,p.=,ENST00000421087,;SPRED2,downstream_gene_variant,,ENST00000474228,;							LOW	801/1257		SPRE2_HUMAN			Transcript			.	ENSP00000348753		CCDS33211.1			1	
NPL	0	LGGM	GRCh37	1	182783980	182783980	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	26	3	.	.	ENST00000367553.1:c.351G>T	p.Lys117Asn	p.K117N	ENST00000367553	NM_030769.2	117	aaG/aaT	0	1		UPI00000728AB	0	getma.org/pdb.php?prot=NPL_HUMAN&from=7&to=304&var=K117N	ENST00000258317		ENSG00000135838	16781		29	2.455		HGNC	p.K117N		NPL		SNV							ENST00000367553	protein_coding	getma.org/?cm=var&var=hg19,1,182783980,G,T&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF00701,PIRSF_domain:PIRSF001365,hmmpanther:PTHR12128,hmmpanther:PTHR12128:SF21,Superfamily_domains:SSF51569		K/N		T	medium	373/1530		getma.org/?cm=msa&ty=f&p=NPL_HUMAN&rb=7&re=304&var=K117N	deleterious(0)					NPL,missense_variant,p.Lys98Asn,ENST00000367554,NM_001200050.1;NPL,missense_variant,p.Lys117Asn,ENST00000367553,NM_030769.2,NM_001200056.1;NPL,missense_variant,p.Lys117Asn,ENST00000367555,NM_001200051.1;NPL,missense_variant,p.Lys117Asn,ENST00000258317,;NPL,missense_variant,p.Lys117Asn,ENST00000367552,;NPL,non_coding_transcript_exon_variant,,ENST00000463899,;NPL,non_coding_transcript_exon_variant,,ENST00000488424,;NPL,non_coding_transcript_exon_variant,,ENST00000479721,;NPL,downstream_gene_variant,,ENST00000460690,;NPL,upstream_gene_variant,,ENST00000460179,;							MODERATE	351/963	K117N	NPL_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000258317		CCDS1350.1			1	
OR51E2	0	LGGM	GRCh37	11	4712433	4712433	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	19	3	.	.	ENST00000608504.1:n.500G>A		*167*	ENST00000608504				0	1	1	UPI000003B49B	0		ENST00000396950		ENSG00000167332	15195		22			HGNC	p.R165K		OR51E2		SNV							ENST00000357764	protein_coding							T		-/2781				E9PPJ8_HUMAN			YES	OR51E2,intron_variant,,ENST00000396950,NM_030774.3;OR51E2,intron_variant,,ENST00000532598,;OR51C1P,non_coding_transcript_exon_variant,,ENST00000608504,;OR51C1P,non_coding_transcript_exon_variant,,ENST00000357764,;							MODIFIER	-/963		O51E2_HUMAN			Transcript			.	ENSP00000380153		CCDS7751.1			1	
CEP164	0	LGGM	GRCh37	11	117261806	117261806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	46	3	.	.	ENST00000278935.3:c.2158C>A	p.Gln720Lys	p.Q720K	ENST00000278935	NM_014956.4	720	Caa/Aaa	0	1	1	UPI00001FA422	0	NA	ENST00000278935		ENSG00000110274	29182		49	2.015		HGNC	p.Q694K		CEP164		SNV			1				ENST00000529538	protein_coding	getma.org/?cm=var&var=hg19,11,117261806,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF8		Q/K		A	medium	2305/5630		getma.org/?cm=msa&ty=f&p=CE164_HUMAN&rb=610&re=770&var=Q720K	tolerated(0.98)	E9PR73_HUMAN,E9PLS8_HUMAN,E9PIM2_HUMAN,E9PI05_HUMAN			YES	CEP164,missense_variant,p.Gln720Lys,ENST00000278935,NM_014956.4,NM_001271933.1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,;CEP164,downstream_gene_variant,,ENST00000529153,;							MODERATE	2158/4383	Q720K	CE164_HUMAN			Transcript		benign(0.228)	.	ENSP00000278935		CCDS31683.1			1	
PNPLA6	0	LGGM	GRCh37	19	7623985	7623985	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	31	3	.	.	ENST00000414982.3:c.3677C>A	p.Pro1226Gln	p.P1226Q	ENST00000414982	NM_001166111.1	1226	cCg/cAg	0	1	1	UPI0001AE63FF	0	NA	ENST00000414982		ENSG00000032444	16268		34	3.12		HGNC	p.P1178Q		PNPLA6		SNV			1				ENST00000221249	protein_coding	getma.org/?cm=var&var=hg19,19,7623985,C,A&fts=all		hmmpanther:PTHR14226,hmmpanther:PTHR14226:SF26,Superfamily_domains:SSF52151		P/Q		A	medium	3872/4522		getma.org/?cm=msa&ty=f&p=PLPL6_HUMAN&rb=1139&re=1338&var=P1217Q	deleterious(0)				YES	PNPLA6,missense_variant,p.Pro1178Gln,ENST00000221249,NM_006702.4;PNPLA6,missense_variant,p.Pro1226Gln,ENST00000414982,NM_001166111.1;PNPLA6,missense_variant,p.Pro1151Gln,ENST00000545201,NM_001166112.1;PNPLA6,missense_variant,p.Pro1178Gln,ENST00000450331,NM_001166113.1;PNPLA6,missense_variant,p.Pro1216Gln,ENST00000600737,NM_001166114.1;PNPLA6,missense_variant,p.Pro45Gln,ENST00000599947,;PNPLA6,upstream_gene_variant,,ENST00000597202,;PNPLA6,downstream_gene_variant,,ENST00000595352,;PNPLA6,downstream_gene_variant,,ENST00000599951,;							MODERATE	3677/4128	P1217Q	PLPL6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000407509		CCDS54206.1			1	
SH3RF3	0	LGGM	GRCh37	2	109964138	109964138	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	24	3	.	.	ENST00000309415.6:c.582C>T	p.Cys194=	p.C194=	ENST00000309415	NM_001099289.1	194	tgC/tgT	0	1	1	UPI0000DD7AEA	0		ENST00000309415		ENSG00000172985	24699		27			HGNC	p.C194C		SH3RF3		SNV							ENST00000309415	protein_coding			hmmpanther:PTHR10661,hmmpanther:PTHR10661:SF116,Superfamily_domains:SSF50044		C		T		582/2649				C9JNJ4_HUMAN			YES	SH3RF3,synonymous_variant,p.=,ENST00000309415,NM_001099289.1;SH3RF3,synonymous_variant,p.=,ENST00000418513,;							LOW	582/2649		SH3R3_HUMAN			Transcript			.	ENSP00000309186					1	
ZNF142	0	LGGM	GRCh37	2	219503453	219503453	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	16	3	.	.	ENST00000411696.2:c.4673G>A	p.Arg1558Gln	p.R1558Q	ENST00000411696		1558	cGg/cAg	0	1	1	UPI000013D5FC	0	getma.org/pdb.php?prot=ZN142_HUMAN&from=1548&to=1564&var=R1558Q	ENST00000411696		ENSG00000115568	12927		19	1.24		HGNC	p.R1558Q	rs757596506	ZNF142	6.11E-05	SNV							ENST00000449707	protein_coding	getma.org/?cm=var&var=hg19,2,219503453,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF43,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/Q		T	low	5453/6034	1.52E-05	getma.org/?cm=msa&ty=f&p=ZN142_HUMAN&rb=1518&re=1594&var=R1558Q	tolerated(0.13)	C9J055_HUMAN			YES	ZNF142,missense_variant,p.Arg1558Gln,ENST00000411696,;ZNF142,missense_variant,p.Arg1558Gln,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,,ENST00000458239,;							MODERATE	4673/5064	R1558Q	ZN142_HUMAN			Transcript		benign(0.238)	.	ENSP00000398798	1.65E-05	CCDS42817.1			1	
PCDHB5	0	LGGM	GRCh37	5	140516746	140516746	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	20	3	.	.	ENST00000231134.5:c.1730G>A	p.Arg577Gln	p.R577Q	ENST00000231134	NM_015669.2	577	cGg/cAg	0	1	1	UPI00001273E1	0	getma.org/pdb.php?prot=PCDB5_HUMAN&from=574&to=662&var=R577Q	ENST00000231134		ENSG00000113209	8690		23	2.135		HGNC	p.R577Q		PCDHB5		SNV							ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140516746,G,A&fts=all		Superfamily_domains:SSF49313,Gene3D:2.60.40.60,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		R/Q		A	medium	1947/2904		getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=574&re=662&var=R577Q	deleterious_low_confidence(0)				YES	PCDHB5,missense_variant,p.Arg577Gln,ENST00000231134,NM_015669.2;							MODERATE	1730/2388	R577Q	PCDB5_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000231134		CCDS4247.1			1	
INTS6	0	LGGM	GRCh37	13	51953649	51953649	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	19	3	.	.	ENST00000311234.4:c.1335A>G	p.Glu445=	p.E445=	ENST00000311234	NM_012141.2	445	gaA/gaG	0	1	1	UPI0000030C84	0		ENST00000311234		ENSG00000102786	14879		22			HGNC	p.E445E		INTS6		SNV							ENST00000311234	protein_coding			hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957		E		C		1808/3662				G5E9X1_HUMAN,C9K0V7_HUMAN,C9JVX2_HUMAN,C9J885_HUMAN,C9J0C6_HUMAN,B3KQH5_HUMAN			YES	INTS6,synonymous_variant,p.=,ENST00000311234,NM_012141.2;INTS6,synonymous_variant,p.=,ENST00000398119,NM_001039937.1;INTS6,synonymous_variant,p.=,ENST00000425000,;INTS6,synonymous_variant,p.=,ENST00000497989,;INTS6,synonymous_variant,p.=,ENST00000490542,;INTS6,intron_variant,,ENST00000463928,;INTS6,downstream_gene_variant,,ENST00000420668,;INTS6,downstream_gene_variant,,ENST00000483746,;INTS6,downstream_gene_variant,,ENST00000460868,;INTS6,3_prime_UTR_variant,,ENST00000469430,;INTS6,non_coding_transcript_exon_variant,,ENST00000483441,;INTS6,non_coding_transcript_exon_variant,,ENST00000493153,;							LOW	1335/2664		INT6_HUMAN			Transcript			.	ENSP00000310260		CCDS9428.1			1	
HEXB	0	LGGM	GRCh37	5	73992843	73992843	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	20	3	.	.	ENST00000261416.7:c.581T>C	p.Ile194Thr	p.I194T	ENST00000261416	NM_000521.3	194	aTt/aCt	0	1	1	UPI000013D183	0	getma.org/pdb.php?prot=HEXB_HUMAN&from=68&to=198&var=I194T	ENST00000261416		ENSG00000049860	4879		23	3.81		HGNC	p.I194T		HEXB		SNV			1				ENST00000261416	protein_coding	getma.org/?cm=var&var=hg19,5,73992843,T,C&fts=all		hmmpanther:PTHR22600,hmmpanther:PTHR22600:SF11,Gene3D:3.30.379.10,PIRSF_domain:PIRSF001093,Superfamily_domains:SSF55545,Prints_domain:PR00738		I/T		C	high	698/1901		getma.org/?cm=msa&ty=f&p=HEXB_HUMAN&rb=68&re=198&var=I194T	deleterious(0)	Q5URX0_HUMAN,D6REQ8_HUMAN			YES	HEXB,missense_variant,p.Ile194Thr,ENST00000261416,NM_000521.3;HEXB,5_prime_UTR_variant,,ENST00000511181,;HEXB,non_coding_transcript_exon_variant,,ENST00000513079,;HEXB,non_coding_transcript_exon_variant,,ENST00000510820,;							MODERATE	581/1671	I194T	HEXB_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261416		CCDS4022.1			1	
ANGPTL6	0	LGGM	GRCh37	19	10203381	10203381	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	47	3	.	.	ENST00000253109.4:c.1297C>A	p.His433Asn	p.H433N	ENST00000253109	NM_031917.2	433	Cac/Aac	0	1	1	UPI000004BA54	0	getma.org/pdb.php?prot=ANGL6_HUMAN&from=256&to=468&var=H433N	ENST00000253109		ENSG00000130812	23140		50	0.665		HGNC	p.H433N		ANGPTL6		SNV							ENST00000253109	protein_coding	getma.org/?cm=var&var=hg19,19,10203381,G,T&fts=all		PROSITE_profiles:PS51406,hmmpanther:PTHR19143:SF169,hmmpanther:PTHR19143,Gene3D:4.10.530.10,Pfam_domain:PF00147,SMART_domains:SM00186,Superfamily_domains:SSF56496		H/N		T	neutral	1536/1900		getma.org/?cm=msa&ty=f&p=ANGL6_HUMAN&rb=256&re=468&var=H433N	deleterious(0)				YES	ANGPTL6,missense_variant,p.His433Asn,ENST00000253109,NM_031917.2;ANGPTL6,missense_variant,p.His433Asn,ENST00000592641,;ANGPTL6,missense_variant,p.His393Asn,ENST00000589181,;C19orf66,3_prime_UTR_variant,,ENST00000397881,;C19orf66,3_prime_UTR_variant,,ENST00000253110,NM_018381.2;C19orf66,3_prime_UTR_variant,,ENST00000591813,;C19orf66,downstream_gene_variant,,ENST00000590378,;C19orf66,downstream_gene_variant,,ENST00000593131,;CTD-2240E14.4,upstream_gene_variant,,ENST00000589622,;C19orf66,non_coding_transcript_exon_variant,,ENST00000585919,;C19orf66,non_coding_transcript_exon_variant,,ENST00000586730,;C19orf66,downstream_gene_variant,,ENST00000592551,;C19orf66,downstream_gene_variant,,ENST00000587710,;ANGPTL6,downstream_gene_variant,,ENST00000586910,;C19orf66,downstream_gene_variant,,ENST00000586889,;C19orf66,downstream_gene_variant,,ENST00000587609,;							MODERATE	1297/1413	H433N	ANGL6_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000253109		CCDS12224.1			1	
CLDN9	0	LGGM	GRCh37	16	3063852	3063852	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	19	3	.	.	ENST00000445369.2:c.489C>T	p.Ser163=	p.S163=	ENST00000445369	NM_020982.3	163	tcC/tcT	0	1	1	UPI0000035DA5	0		ENST00000445369		ENSG00000213937	2051		22			HGNC	p.S163S	COSM3508852	CLDN9		SNV						1	ENST00000445369	protein_coding			Pfam_domain:PF00822,Prints_domain:PR01077,hmmpanther:PTHR12002,hmmpanther:PTHR12002:SF42,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		S		T		1396/2050							YES	CLDN9,synonymous_variant,p.=,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,;					1		LOW	489/654		CLD9_HUMAN			Transcript			.	ENSP00000398017		CCDS10487.1			1	
LTBP4	0	LGGM	GRCh37	19	41120285	41120285	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	44	3	.	.	ENST00000308370.7:c.2946C>A	p.Pro982=	p.P982=	ENST00000308370	NM_001042544.1	982	ccC/ccA	0	1	1	UPI000179A7A0	0		ENST00000308370		ENSG00000090006	6717		47			HGNC	p.P435P		LTBP4		SNV			1				ENST00000545697	protein_coding			Superfamily_domains:SSF57184,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01187,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		P		A		2946/5142							YES	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.=,ENST00000243562,;LTBP4,synonymous_variant,p.=,ENST00000601032,;LTBP4,synonymous_variant,p.=,ENST00000599724,;LTBP4,synonymous_variant,p.=,ENST00000597071,;LTBP4,synonymous_variant,p.=,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,,ENST00000601560,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595183,;LTBP4,downstream_gene_variant,,ENST00000598055,;LTBP4,upstream_gene_variant,,ENST00000597603,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594266,;LTBP4,non_coding_transcript_exon_variant,,ENST00000597816,;LTBP4,non_coding_transcript_exon_variant,,ENST00000602251,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595767,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600499,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601570,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594457,;LTBP4,non_coding_transcript_exon_variant,,ENST00000595665,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594448,;LTBP4,non_coding_transcript_exon_variant,,ENST00000593614,;LTBP4,non_coding_transcript_exon_variant,,ENST00000596351,;LTBP4,non_coding_transcript_exon_variant,,ENST00000601464,;LTBP4,downstream_gene_variant,,ENST00000546155,;LTBP4,downstream_gene_variant,,ENST00000598717,;LTBP4,downstream_gene_variant,,ENST00000598256,;							LOW	2946/4872		LTBP4_HUMAN			Transcript			.	ENSP00000311905					1	
YEATS2	0	LGGM	GRCh37	3	183493894	183493894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	20	3	.	.	ENST00000305135.5:c.2560C>A	p.Leu854Ile	p.L854I	ENST00000305135	NM_018023.4	854	Ctc/Atc	0	1	1	UPI00001BB2B9	0	NA	ENST00000305135		ENSG00000163872	25489		23	0.895		HGNC	p.L854I		YEATS2		SNV							ENST00000421660	protein_coding	getma.org/?cm=var&var=hg19,3,183493894,C,A&fts=all		hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7		L/I		A	low	2755/6506		getma.org/?cm=msa&ty=f&p=YETS2_HUMAN&rb=715&re=914&var=L854I	deleterious_low_confidence(0)				YES	YEATS2,missense_variant,p.Leu854Ile,ENST00000305135,NM_018023.4;YEATS2,missense_variant,p.Leu40Ile,ENST00000432781,;							MODERATE	2560/4269	L854I	YETS2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000306983		CCDS43175.1			1	
SORCS3	0	LGGM	GRCh37	10	106924079	106924079	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	23	4	.	.	ENST00000369701.3:c.1751T>A	p.Leu584His	p.L584H	ENST00000369701	NM_014978.1	584	cTc/cAc	0	1	1	UPI0000135CE1	0	getma.org/pdb.php?prot=SORC3_HUMAN&from=480&to=679&var=L584H	ENST00000369701		ENSG00000156395	16699		27	3.7		HGNC	p.L29H	rs374687821	SORCS3		SNV	A:0.0002						ENST00000393176	protein_coding	getma.org/?cm=var&var=hg19,10,106924079,T,A&fts=all		Gene3D:2.130.10.140,hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF10,SMART_domains:SM00602,Superfamily_domains:SSF110296		L/H	A:0	A	high	1978/5757		getma.org/?cm=msa&ty=f&p=SORC3_HUMAN&rb=480&re=679&var=L584H	deleterious(0)	B7Z891_HUMAN			YES	SORCS3,missense_variant,p.Leu584His,ENST00000369701,NM_014978.1;SORCS3,missense_variant,p.Leu29His,ENST00000393176,;							MODERATE	1751/3669	L584H	SORC3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358715		CCDS7558.1			1	
DEPDC5	0	LGGM	GRCh37	22	32188763	32188763	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	25	4	.	.	ENST00000382112.3:c.727C>T	p.Arg243Ter	p.R243*	ENST00000382112	NM_001136029.2	243	Cga/Tga	0	1		UPI00004708D4	0	NA	ENST00000400246		ENSG00000100150	18423		29	0		HGNC	p.R243X	rs772872014,COSM260408,COSM3842520,COSM1682216,COSM3842521	DEPDC5		SNV			1			0,1,1,1,1	ENST00000535622	protein_coding	getma.org/?cm=var&var=hg19,22,32188763,C,T&fts=all		Pfam_domain:PF12257,hmmpanther:PTHR13179		R/*		T	NA	869/5410		NA		C9JGS4_HUMAN				DEPDC5,stop_gained,p.Arg243Ter,ENST00000400246,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000266091,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400249,NM_014662.3;DEPDC5,stop_gained,p.Arg243Ter,ENST00000382112,NM_001136029.2,NM_001242896.1;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400248,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000382111,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000382105,;DEPDC5,stop_gained,p.Arg243Ter,ENST00000535622,NM_001242897.1;DEPDC5,stop_gained,p.Arg243Ter,ENST00000400242,NM_001007188.2;DEPDC5,stop_gained,p.Arg215Ter,ENST00000536766,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000469974,;DEPDC5,non_coding_transcript_exon_variant,,ENST00000473802,;	0.000116				0,1,1,1,1		HIGH	727/4659	R243*	DEPD5_HUMAN			Transcript			.	ENSP00000383105	8.28E-06				1	
SNED1	0	LGGM	GRCh37	2	241976711	241976711	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	28	4	.	.	ENST00000310397.8:c.986G>T	p.Gly329Val	p.G329V	ENST00000310397	NM_001080437.1	329	gGc/gTc	0	1	1	UPI0000DD7AB0	0	getma.org/pdb.php?prot=SNED1_HUMAN&from=315&to=345&var=G329V	ENST00000310397		ENSG00000162804	24696		32	2.335		HGNC	p.G329V		SNED1		SNV							ENST00000405547	protein_coding	getma.org/?cm=var&var=hg19,2,241976711,G,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF28,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		G/V		T	medium	986/8174		getma.org/?cm=msa&ty=f&p=SNED1_HUMAN&rb=315&re=345&var=G329V	deleterious(0.04)				YES	SNED1,missense_variant,p.Gly329Val,ENST00000310397,NM_001080437.1;SNED1,missense_variant,p.Gly329Val,ENST00000405547,;SNED1,missense_variant,p.Gly329Val,ENST00000342631,;SNED1,missense_variant,p.Gly329Val,ENST00000401884,;SNED1,missense_variant,p.Gly26Val,ENST00000401644,;SNED1,upstream_gene_variant,,ENST00000431690,;SNED1,upstream_gene_variant,,ENST00000420591,;AC005237.4,intron_variant,,ENST00000458377,;SNED1,non_coding_transcript_exon_variant,,ENST00000493358,;							MODERATE	986/4242	G329V	SNED1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000308893		CCDS46562.1			1	
SLU7	0	LGGM	GRCh37	5	159834507	159834507	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	14	4	.	.	ENST00000297151.4:c.1101G>A	p.Gln367=	p.Q367=	ENST00000297151	NM_006425.4	367	caG/caA	0	1	1	UPI000013E3CE	0		ENST00000297151		ENSG00000164609	16939		18			HGNC	p.Q367Q		SLU7		SNV							ENST00000297151	protein_coding			hmmpanther:PTHR12942,hmmpanther:PTHR12942:SF2,Pfam_domain:PF11708		Q		T		1489/3793				E5RK41_HUMAN,E5RGM7_HUMAN			YES	SLU7,synonymous_variant,p.=,ENST00000297151,NM_006425.4;SLU7,non_coding_transcript_exon_variant,,ENST00000520841,;SLU7,non_coding_transcript_exon_variant,,ENST00000523219,;SLU7,upstream_gene_variant,,ENST00000521320,;							LOW	1101/1761		SLU7_HUMAN			Transcript			.	ENSP00000297151		CCDS4352.1			1	
SPATS2L	0	LGGM	GRCh37	2	201342544	201342544	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	15	5	.	.	ENST00000358677.5:c.1467T>G	p.Asn489Lys	p.N489K	ENST00000358677	NM_015535.2	489	aaT/aaG	0	1	1	UPI0000D48A8E	0	NA	ENST00000358677		ENSG00000196141	24574		20	0.695		HGNC	p.N497K		SPATS2L		SNV							ENST00000409151	protein_coding	getma.org/?cm=var&var=hg19,2,201342544,T,G&fts=all		hmmpanther:PTHR15623:SF8,hmmpanther:PTHR15623		N/K		G	neutral	1714/6156		getma.org/?cm=msa&ty=f&p=SPS2L_HUMAN&rb=378&re=556&var=N489K	deleterious_low_confidence(0.01)	F8WAV0_HUMAN,F8VT91_HUMAN,F2Z2S1_HUMAN,C9JKE4_HUMAN,C9J8M7_HUMAN,C9IZC3_HUMAN,B8ZZZ7_HUMAN			YES	SPATS2L,missense_variant,p.Asn489Lys,ENST00000358677,NM_015535.2,NM_001282744.1,NM_001282735.1,NM_001282743.1;SPATS2L,missense_variant,p.Asn489Lys,ENST00000409988,NM_001100422.1;SPATS2L,missense_variant,p.Asn489Lys,ENST00000409718,;SPATS2L,missense_variant,p.Asn489Lys,ENST00000409140,NM_001100423.1;SPATS2L,missense_variant,p.Asn429Lys,ENST00000409385,;SPATS2L,missense_variant,p.Asn489Lys,ENST00000451764,;SPATS2L,missense_variant,p.Asn420Lys,ENST00000360760,NM_001100424.1;SPATS2L,missense_variant,p.Asn497Lys,ENST00000409151,;SPATS2L,missense_variant,p.Asn519Lys,ENST00000409755,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000460095,;SPATS2L,downstream_gene_variant,,ENST00000468832,;SPATS2L,non_coding_transcript_exon_variant,,ENST00000462190,;							MODERATE	1467/1677	N489K	SPS2L_HUMAN			Transcript		benign(0.069)	.	ENSP00000351503		CCDS46483.1			1	
CC2D2B	0	LGGM	GRCh37	10	97784617	97784617	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	29	5	.	.	ENST00000410012.2:c.788A>T	p.Glu263Val	p.E263V	ENST00000410012	NM_001159747.1	263	gAa/gTa	0	1		UPI0000D4C251	0	NA	ENST00000344386		ENSG00000188649	31666		34	1.495		HGNC	p.E263V		CC2D2B		SNV							ENST00000410012	protein_coding	getma.org/?cm=var&var=hg19,10,97784617,A,T&fts=all						T	low	-/1809		getma.org/?cm=msa&ty=f&p=B4DYD4_HUMAN&rb=4&re=399&var=E263V						CC2D2B,missense_variant,p.Glu263Val,ENST00000410012,NM_001159747.1;CC2D2B,intron_variant,,ENST00000371198,;CC2D2B,intron_variant,,ENST00000344386,NM_001001732.3;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000451364,;ENTPD1-AS1,intron_variant,,ENST00000449197,;RP11-690P14.4,intron_variant,,ENST00000475252,;							MODIFIER	-/969	E263V	C2D2B_HUMAN			Transcript			.	ENSP00000343747		CCDS41555.1			1	
TP53	0	LGGM	GRCh37	17	7578211	7578211	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	13	5	.	.	ENST00000269305.4:c.638G>T	p.Arg213Leu	p.R213L	ENST00000269305	NM_001126112.2	213	cGa/cTa	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R213L	ENST00000269305		ENSG00000141510	11998		18	3.315		HGNC	p.R213L	TP53_g.12707G>T,COSM43650,COSM241998,COSM241997,COSM241999,COSM3378349,COSM1741334,COSM242000	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7578211,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/L		A	medium	828/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R213L	deleterious(0)	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			YES	TP53,missense_variant,p.Arg213Leu,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg213Leu,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg213Leu,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg213Leu,ENST00000445888,;TP53,missense_variant,p.Arg213Leu,ENST00000359597,;TP53,missense_variant,p.Arg213Leu,ENST00000413465,;TP53,missense_variant,p.Arg81Leu,ENST00000509690,;TP53,missense_variant,p.Arg120Leu,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,;					0,1,1,1,1,1,1,1		MODERATE	638/1182	R213L	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
PLEKHG3	0	LGGM	GRCh37	14	65208504	65208504	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	50	5	.	.	ENST00000247226.7:c.2101T>G	p.Phe701Val	p.F701V	ENST00000247226	NM_015549.1	701	Ttc/Gtc	0	1		UPI0000ECF248	0	NA	ENST00000394691		ENSG00000126822	20364		55	1.78		HGNC	p.F757V		PLEKHG3		SNV							ENST00000394691	protein_coding	getma.org/?cm=var&var=hg19,14,65208504,T,G&fts=all		hmmpanther:PTHR22143,hmmpanther:PTHR22143:SF4		F/V		G	low	2416/4396		getma.org/?cm=msa&ty=f&p=PKHG3_HUMAN&rb=561&re=1218&var=F757V	deleterious(0.03)	G3V3I3_HUMAN,G3V311_HUMAN,G3V278_HUMAN				PLEKHG3,missense_variant,p.Phe701Val,ENST00000247226,NM_015549.1;PLEKHG3,missense_variant,p.Phe757Val,ENST00000394691,;PLEKHG3,missense_variant,p.Phe290Val,ENST00000471182,;PLEKHG3,missense_variant,p.Phe262Val,ENST00000484731,;SPTB,downstream_gene_variant,,ENST00000389722,NM_001024858.2;PLEKHG3,splice_donor_variant,,ENST00000492928,;PLEKHG3,non_coding_transcript_exon_variant,,ENST00000490180,;							MODERATE	2269/3660	F757V	PKHG3_HUMAN			Transcript		benign(0.094)	.	ENSP00000378183					1	
POLR3B	0	LGGM	GRCh37	12	106838338	106838338	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	36	5	.	.	ENST00000228347.4:c.2053T>A	p.Tyr685Asn	p.Y685N	ENST00000228347	NM_018082.5	685	Tat/Aat	0	1	1	UPI000000DB67	0	getma.org/pdb.php?prot=RPC2_HUMAN&from=666&to=1041&var=Y685N	ENST00000228347		ENSG00000013503	30348		41	4.43		HGNC	p.Y627N		POLR3B		SNV			1				ENST00000539066	protein_coding	getma.org/?cm=var&var=hg19,12,106838338,T,A&fts=all		Gene3D:2a6hC02,Pfam_domain:PF00562,hmmpanther:PTHR20856,hmmpanther:PTHR20856:SF8,Superfamily_domains:SSF64484		Y/N		A	high	2275/4273		getma.org/?cm=msa&ty=f&p=RPC2_HUMAN&rb=666&re=1041&var=Y685N	deleterious(0)	F8VRU2_HUMAN,B3KRQ8_HUMAN			YES	POLR3B,missense_variant,p.Tyr685Asn,ENST00000228347,NM_018082.5;POLR3B,missense_variant,p.Tyr627Asn,ENST00000539066,NM_001160708.1;							MODERATE	2053/3402	Y685N	RPC2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000228347		CCDS9105.1			1	
MTERFD2	0	LGGM	GRCh37	2	242033795	242033795	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	16	6	.	.	ENST00000310397.8:c.*2744C>T		*915*	ENST00000310397	NM_001080437.1			0	1		UPI0000209875	0		ENST00000241527		ENSG00000122085	28785		22			HGNC	p.K105K		MTERFD2		SNV							ENST00000414146	nonsense_mediated_decay							T		2089/4529				C9JX74_HUMAN,B4DFP7_HUMAN				MTERFD2,synonymous_variant,p.=,ENST00000414146,;SNED1,3_prime_UTR_variant,,ENST00000310397,NM_001080437.1;SNED1,3_prime_UTR_variant,,ENST00000405547,;MTERFD2,intron_variant,,ENST00000495694,;SNED1,downstream_gene_variant,,ENST00000342631,;MTERFD2,downstream_gene_variant,,ENST00000391980,NM_182501.3;MTERFD2,downstream_gene_variant,,ENST00000406593,;MTERFD2,downstream_gene_variant,,ENST00000407095,;MTERFD2,downstream_gene_variant,,ENST00000424798,;MTERFD2,downstream_gene_variant,,ENST00000439144,;MTERFD2,downstream_gene_variant,,ENST00000401626,;MTERFD2,upstream_gene_variant,,ENST00000449133,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000464344,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000488567,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000455202,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000479205,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000493169,;MTERFD2,intron_variant,,ENST00000480298,;MTERFD2,3_prime_UTR_variant,,ENST00000241527,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000496878,;MTERFD2,non_coding_transcript_exon_variant,,ENST00000476564,;SNED1,downstream_gene_variant,,ENST00000466618,;MTERFD2,downstream_gene_variant,,ENST00000475860,;MTERFD2,downstream_gene_variant,,ENST00000460915,;							MODIFIER	-/1146		MTER2_HUMAN			Transcript			.	ENSP00000241527		CCDS2544.1			1	
KCTD19	0	LGGM	GRCh37	16	67328071	67328071	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	84	6	.	.	ENST00000304372.5:c.1594A>G	p.Thr532Ala	p.T532A	ENST00000304372	NM_001100915.1	532	Aca/Gca	0	1	1	UPI00001D7875	0	NA	ENST00000304372		ENSG00000168676	24753		90	0.205		HGNC	p.T532A		KCTD19		SNV							ENST00000304372	protein_coding	getma.org/?cm=var&var=hg19,16,67328071,T,C&fts=all				T/A		C	neutral	1650/2958		getma.org/?cm=msa&ty=f&p=KCD19_HUMAN&rb=517&re=723&var=T532A	tolerated(0.5)	J3KSZ9_HUMAN,H3BVC0_HUMAN			YES	KCTD19,missense_variant,p.Thr532Ala,ENST00000304372,NM_001100915.1;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;KCTD19,upstream_gene_variant,,ENST00000562841,;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,,ENST00000562289,;							MODERATE	1594/2781	T532A	KCD19_HUMAN			Transcript		benign(0)	.	ENSP00000305702		CCDS42179.1			1	
CPD	0	LGGM	GRCh37	17	28754421	28754421	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	28	6	.	.	ENST00000225719.4:c.1862G>T	p.Ser621Ile	p.S621I	ENST00000225719	NM_001304.4	621	aGt/aTt	0	1	1	UPI000000DAF7	0	getma.org/pdb.php?prot=CBPD_HUMAN&from=509&to=784&var=S621I	ENST00000225719		ENSG00000108582	2301		34	1.63		HGNC	p.S621I		CPD		SNV							ENST00000225719	protein_coding	getma.org/?cm=var&var=hg19,17,28754421,G,T&fts=all		Gene3D:3.40.630.10,Pfam_domain:PF00246,hmmpanther:PTHR11532,hmmpanther:PTHR11532:SF40,SMART_domains:SM00631,Superfamily_domains:SSF53187		S/I		T	low	1938/9394		getma.org/?cm=msa&ty=f&p=CBPD_HUMAN&rb=509&re=784&var=S621I	deleterious(0.04)				YES	CPD,missense_variant,p.Ser621Ile,ENST00000225719,NM_001304.4;CPD,missense_variant,p.Ser374Ile,ENST00000543464,NM_001199775.1;							MODERATE	1862/4143	S621I	CBPD_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000225719		CCDS11257.1			1	
CHST14	0	LGGM	GRCh37	15	40764117	40764117	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	50	6	.	.	ENST00000306243.5:c.705A>T	p.Gln235His	p.Q235H	ENST00000306243	NM_130468.3	235	caA/caT	0	1	1	UPI000004616D	0	NA	ENST00000306243		ENSG00000169105	24464		56	0.255		HGNC	p.Q235H		CHST14		SNV			1				ENST00000306243	protein_coding	getma.org/?cm=var&var=hg19,15,40764117,A,T&fts=all		hmmpanther:PTHR12137:SF34,hmmpanther:PTHR12137,Pfam_domain:PF03567		Q/H		T	neutral	958/2194		getma.org/?cm=msa&ty=f&p=CHSTE_HUMAN&rb=139&re=365&var=Q235H	tolerated(0.06)				YES	CHST14,missense_variant,p.Gln235His,ENST00000306243,NM_130468.3;CHST14,missense_variant,p.Gln210His,ENST00000559991,;BAHD1,downstream_gene_variant,,ENST00000561234,;BAHD1,downstream_gene_variant,,ENST00000416165,NM_014952.3;BAHD1,downstream_gene_variant,,ENST00000560846,;							MODERATE	705/1131	Q235H	CHSTE_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000307297		CCDS10059.1			1	
MYBPC3	0	LGGM	GRCh37	11	47360201	47360201	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	14	6	.	.	ENST00000545968.1:c.2178C>T	p.Arg726=	p.R726=	ENST00000545968	NM_000256.3	726	cgC/cgT	0	1	1	UPI000006EEAA	0		ENST00000545968	likely_benign	ENSG00000134571	7551		20			HGNC	p.R726R	rs370676057,COSM1981537,COSM3415890	MYBPC3		SNV	A:0		1			1,1,1	ENST00000544791	protein_coding			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		R	A:0.0001	A		2233/4217	4.87E-05			B6D426_HUMAN			YES	MYBPC3,synonymous_variant,p.=,ENST00000545968,NM_000256.3;MYBPC3,synonymous_variant,p.=,ENST00000399249,;MYBPC3,synonymous_variant,p.=,ENST00000256993,;MYBPC3,synonymous_variant,p.=,ENST00000544791,;					0,1,1		LOW	2178/3825		MYPC3_HUMAN	0.00017		Transcript			.	ENSP00000442795	3.31E-05	CCDS53621.1			1	
FZD10	0	LGGM	GRCh37	12	130647927	130647927	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	44	6	.	.	ENST00000229030.4:c.440G>A	p.Cys147Tyr	p.C147Y	ENST00000229030		147	tGc/tAc	0	1	1	UPI000004EC92	0	getma.org/pdb.php?prot=FZD10_HUMAN&from=34&to=148&var=C147Y	ENST00000229030		ENSG00000111432	4039		50	3.72		HGNC	p.C147Y		FZD10		SNV							ENST00000229030	protein_coding	getma.org/?cm=var&var=hg19,12,130647927,G,A&fts=all		PROSITE_profiles:PS50038,hmmpanther:PTHR11309:SF86,hmmpanther:PTHR11309,Gene3D:1ijyA00,Pfam_domain:PF01392,SMART_domains:SM00063,Superfamily_domains:SSF63501		C/Y		A	high	924/3281		getma.org/?cm=msa&ty=f&p=FZD10_HUMAN&rb=34&re=148&var=C147Y	deleterious(0)				YES	FZD10,missense_variant,p.Cys147Tyr,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,;							MODERATE	440/1746	C147Y	FZD10_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000229030		CCDS9267.1			1	
PER3	0	LGGM	GRCh37	1	7889973	7890026	+	inframe_deletion	In_Frame_Del	DEL	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	-	novel	by Submitter	H110129	H110129N.bam	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	44	13	.	.	ENST00000361923.2:c.3019_3072del	p.Ala1007_Ser1024del	p.A1007_S1024del	ENST00000361923	NM_016831.1	980	gAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAag/gag	0	1	1	UPI0000167B1D	0		ENST00000361923		ENSG00000049246	8847		57			HGNC	p.989_1007del	TMP_ESP_1_7889973_7890026	PER3		deletion	-:0.1317						ENST00000377532	protein_coding			Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		ENPSHPTASALSTGSPPMK/E	-:0.1768	-		3114-3167/6203				Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,inframe_deletion,p.Ala1016_Ser1033del,ENST00000377532,;PER3,inframe_deletion,p.Ala1007_Ser1024del,ENST00000361923,NM_016831.1;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;							MODERATE	2939-2992/3606		PER3_HUMAN			Transcript	80		.	ENSP00000355031		CCDS89.1			1	
SLC17A8	0	LGGM	GRCh37	12	100806652	100806652	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	25	7	.	.	ENST00000323346.5:c.1291A>G	p.Ile431Val	p.I431V	ENST00000323346	NM_001145288.1	431	Att/Gtt	0	1	1	UPI0000073B9B	0	NA	ENST00000323346		ENSG00000179520	20151		32	1.915		HGNC	p.I381V		SLC17A8		SNV			1				ENST00000392989	protein_coding	getma.org/?cm=var&var=hg19,12,100806652,A,G&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF207,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		I/V		G	medium	1604/3983		getma.org/?cm=msa&ty=f&p=VGLU3_HUMAN&rb=81&re=465&var=I431V	deleterious(0)				YES	SLC17A8,missense_variant,p.Ile431Val,ENST00000323346,NM_001145288.1,NM_139319.2;SLC17A8,missense_variant,p.Ile381Val,ENST00000392989,;SLC17A8,non_coding_transcript_exon_variant,,ENST00000552697,;							MODERATE	1291/1770	I431V	VGLU3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000316909		CCDS9077.1			1	
C12orf50	0	LGGM	GRCh37	12	88390198	88390198	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	19	7	.	.	ENST00000298699.2:c.434A>G	p.Glu145Gly	p.E145G	ENST00000298699	NM_152589.1	145	gAa/gGa	0	1	1	UPI0000071382	0	NA	ENST00000298699		ENSG00000165805	26665		26	2.19		HGNC	p.E145G		C12orf50		SNV							ENST00000550553	protein_coding	getma.org/?cm=var&var=hg19,12,88390198,T,C&fts=all		hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF1		E/G		C	medium	615/1718		getma.org/?cm=msa&ty=f&p=CL050_HUMAN&rb=87&re=412&var=E145G	deleterious(0.03)	F8VXH4_HUMAN			YES	C12orf50,missense_variant,p.Glu145Gly,ENST00000298699,NM_152589.1;C12orf50,missense_variant,p.Glu145Gly,ENST00000550553,;C12orf50,downstream_gene_variant,,ENST00000551163,;C12orf50,non_coding_transcript_exon_variant,,ENST00000551944,;							MODERATE	434/1245	E145G	CL050_HUMAN			Transcript		possibly_damaging(0.789)	.	ENSP00000298699		CCDS9031.1			1	
KRT35	0	LGGM	GRCh37	17	39637254	39637254	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	29	8	.	.	ENST00000393989.1:c.96C>T	p.Tyr32=	p.Y32=	ENST00000393989	NM_002280.4	32	taC/taT	0	1	1	UPI0000D74C4B	0		ENST00000393989		ENSG00000197079	6453		37			HGNC	p.Y2Y	rs775323065	KRT35		SNV							ENST00000246639	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF109		Y		A		139/1670				C4AM86_HUMAN			YES	KRT35,synonymous_variant,p.=,ENST00000246639,;KRT35,synonymous_variant,p.=,ENST00000393989,NM_002280.4;							LOW	96/1368		KRT35_HUMAN			Transcript			.	ENSP00000377558		CCDS11394.2			1	
LYZL6	0	LGGM	GRCh37	17	34266225	34266225	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	39	8	.	.	ENST00000585556.1:c.136G>A	p.Asp46Asn	p.D46N	ENST00000585556		46	Gac/Aac	0	1	1	UPI000006E183	0	getma.org/pdb.php?prot=LYZL6_HUMAN&from=20&to=145&var=D46N	ENST00000585556		ENSG00000161572	29614		47	0.455		HGNC	p.D46N		LYZL6		SNV							ENST00000394523	protein_coding	getma.org/?cm=var&var=hg19,17,34266225,C,T&fts=all		PROSITE_profiles:PS51348,hmmpanther:PTHR11407,hmmpanther:PTHR11407:SF9,Gene3D:1.10.530.10,Pfam_domain:PF00062,SMART_domains:SM00263,Superfamily_domains:SSF53955,Prints_domain:PR00135		D/N		T	neutral	471/1047		getma.org/?cm=msa&ty=f&p=LYZL6_HUMAN&rb=20&re=145&var=D46N	tolerated(0.06)				YES	LYZL6,missense_variant,p.Asp46Asn,ENST00000585556,;LYZL6,missense_variant,p.Asp46Asn,ENST00000293274,NM_001199951.1;LYZL6,missense_variant,p.Asp46Asn,ENST00000394523,NM_020426.2;LYZL6,non_coding_transcript_exon_variant,,ENST00000492340,;							MODERATE	136/447	D46N	LYZL6_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000468094		CCDS11302.1			1	
DAPK1	0	LGGM	GRCh37	9	90312006	90312006	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	39	8	.	.	ENST00000408954.3:c.2498C>T	p.Thr833Met	p.T833M	ENST00000408954	NM_004938.2	833	aCg/aTg	0	1		UPI0000210C2F	0	NA	ENST00000358077		ENSG00000196730	2674		47	1.7		HGNC	p.T833M	rs560541760	DAPK1		SNV							ENST00000408954	protein_coding	getma.org/?cm=var&var=hg19,9,90312006,C,T&fts=all		hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF54,Superfamily_domains:SSF52540		T/M		T	low	2681/5743	1.50E-05	getma.org/?cm=msa&ty=f&p=DAPK1_HUMAN&rb=751&re=1284&var=T833M	deleterious(0.01)					DAPK1,missense_variant,p.Thr833Met,ENST00000469640,;DAPK1,missense_variant,p.Thr833Met,ENST00000408954,NM_004938.2;DAPK1,missense_variant,p.Thr833Met,ENST00000472284,NM_001288729.1,NM_001288730.1;DAPK1,missense_variant,p.Thr833Met,ENST00000358077,NM_001288731.1;DAPK1,intron_variant,,ENST00000491893,;DAPK1,upstream_gene_variant,,ENST00000468482,;DAPK1,3_prime_UTR_variant,,ENST00000489291,;							MODERATE	2498/4293	T833M	DAPK1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000350785	8.27E-06	CCDS43842.1			1	
ZBTB25	0	LGGM	GRCh37	14	64953758	64953758	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	35	8	.	.	ENST00000608382.1:c.1191C>A	p.Asp397Glu	p.D397E	ENST00000608382	NM_006977.2	397	gaC/gaA	0	1		UPI0000074252	0	NA	ENST00000394715		ENSG00000089775	13112		43	0.805		HGNC	p.D397E		ZBTB25		SNV							ENST00000394715	protein_coding	getma.org/?cm=var&var=hg19,14,64953758,G,T&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF6		D/E		T	low	1893/2094		getma.org/?cm=msa&ty=f&p=ZBT25_HUMAN&rb=372&re=435&var=D397E	tolerated(0.47)					ZBTB25,missense_variant,p.Asp397Glu,ENST00000608382,NM_006977.2;ZBTB25,missense_variant,p.Asp397Glu,ENST00000394715,;ZBTB25,intron_variant,,ENST00000555220,;ZBTB25,intron_variant,,ENST00000555424,;							MODERATE	1191/1308	D397E	ZBT25_HUMAN			Transcript		benign(0.009)	.	ENSP00000378204		CCDS9765.1			1	
FZD2	0	LGGM	GRCh37	17	42635177	42635177	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	26	9	.	.	ENST00000315323.3:c.121C>T	p.Pro41Ser	p.P41S	ENST00000315323	NM_001466.3	41	Ccc/Tcc	0	1	1	UPI0000050444	0	getma.org/pdb.php?prot=FZD2_HUMAN&from=39&to=151&var=P41S	ENST00000315323		ENSG00000180340	4040		35	2.84		HGNC	p.P41S	rs776956114	FZD2		SNV							ENST00000315323	protein_coding	getma.org/?cm=var&var=hg19,17,42635177,C,T&fts=all		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF34,SMART_domains:SM00063,Superfamily_domains:SSF63501		P/S		T	medium	253/1983	1.51E-05	getma.org/?cm=msa&ty=f&p=FZD2_HUMAN&rb=39&re=151&var=P41S	tolerated(0.06)	Q86UZ8_HUMAN			YES	FZD2,missense_variant,p.Pro41Ser,ENST00000315323,NM_001466.3;							MODERATE	121/1698	P41S	FZD2_HUMAN			Transcript		benign(0.093)	.	ENSP00000323901	8.24E-06	CCDS11484.1			1	
BICC1	0	LGGM	GRCh37	10	60577441	60577441	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	36	9	.	.	ENST00000373886.3:c.2653C>G	p.Leu885Val	p.L885V	ENST00000373886	NM_001080512.1	885	Ctg/Gtg	0	1	1	UPI000059D156	0	getma.org/pdb.php?prot=BICC1_HUMAN&from=874&to=934&var=L885V	ENST00000373886		ENSG00000122870	19351		45	2.785		HGNC	p.L885V		BICC1		SNV			1				ENST00000373886	protein_coding	getma.org/?cm=var&var=hg19,10,60577441,C,G&fts=all		PROSITE_profiles:PS50105,hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF32,Gene3D:1.10.150.50,Pfam_domain:PF00536,SMART_domains:SM00454,Superfamily_domains:SSF47769		L/V		G	medium	2657/5473		getma.org/?cm=msa&ty=f&p=BICC1_HUMAN&rb=874&re=934&var=L885V	tolerated(0.11)				YES	BICC1,missense_variant,p.Leu885Val,ENST00000373886,NM_001080512.1;BICC1,downstream_gene_variant,,ENST00000263103,;							MODERATE	2653/2925	L885V	BICC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362993		CCDS31206.1			1	
CNN1	0	LGGM	GRCh37	19	11660230	11660230	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	19	9	.	.	ENST00000252456.2:c.594T>A	p.Pro198=	p.P198=	ENST00000252456	NM_001299.4	198	ccT/ccA	0	1	1	UPI0000127AE3	0		ENST00000252456		ENSG00000130176	2155		28			HGNC	p.P178P		CNN1		SNV							ENST00000544952	protein_coding			Prints_domain:PR00889,hmmpanther:PTHR18959		P		A		805/1633				K7ENC5_HUMAN,B7Z7E1_HUMAN			YES	CNN1,synonymous_variant,p.=,ENST00000592923,;CNN1,synonymous_variant,p.=,ENST00000252456,NM_001299.4;CNN1,synonymous_variant,p.=,ENST00000535659,;CNN1,synonymous_variant,p.=,ENST00000544952,;CNN1,synonymous_variant,p.=,ENST00000588935,;CNN1,synonymous_variant,p.=,ENST00000586577,;CNN1,intron_variant,,ENST00000592338,;CNN1,intron_variant,,ENST00000587087,;ELOF1,downstream_gene_variant,,ENST00000586683,;ELOF1,downstream_gene_variant,,ENST00000587806,;ELOF1,downstream_gene_variant,,ENST00000252445,NM_032377.3;ELOF1,downstream_gene_variant,,ENST00000591912,;ELOF1,downstream_gene_variant,,ENST00000589171,;ELOF1,downstream_gene_variant,,ENST00000591674,;ELOF1,downstream_gene_variant,,ENST00000586120,;ELOF1,downstream_gene_variant,,ENST00000590700,;CNN1,downstream_gene_variant,,ENST00000586059,;							LOW	594/894		CNN1_HUMAN			Transcript			.	ENSP00000252456		CCDS12263.1			1	
WTAP	0	LGGM	GRCh37	6	160176464	160176464	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	34	9	.	.	ENST00000358372.4:c.1012A>C	p.Ser338Arg	p.S338R	ENST00000358372	NM_004906.4	338	Agt/Cgt	0	1	1	UPI0000070280	0	NA	ENST00000358372		ENSG00000146457	16846		43	0.895		HGNC	p.S338R		WTAP		SNV							ENST00000358372	protein_coding	getma.org/?cm=var&var=hg19,6,160176464,A,C&fts=all		hmmpanther:PTHR15217,hmmpanther:PTHR15217:SF0		S/R		C	low	2769/3656		getma.org/?cm=msa&ty=f&p=FL2D_HUMAN&rb=245&re=396&var=S338R	deleterious_low_confidence(0.01)	Q6AHX7_HUMAN			YES	WTAP,missense_variant,p.Ser338Arg,ENST00000358372,NM_004906.4,NM_001270531.1;SOD2,intron_variant,,ENST00000546087,;ACAT2,upstream_gene_variant,,ENST00000367048,NM_005891.2;SOD2,downstream_gene_variant,,ENST00000535372,;							MODERATE	1012/1191	S338R	FL2D_HUMAN			Transcript		benign(0.382)	.	ENSP00000351141		CCDS5266.1			1	
IQSEC1	0	LGGM	GRCh37	3	12962068	12962068	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	23	10	.	.	ENST00000273221.4:c.1924G>T	p.Val642Leu	p.V642L	ENST00000273221	NM_014869.5	642	Gtg/Ttg	0	1	1	UPI00003E1F36	0		ENST00000273221		ENSG00000144711	29112		33			HGNC	p.V628L		IQSEC1		SNV							ENST00000429247	protein_coding			Superfamily_domains:SSF48425,SMART_domains:SM00222,Gene3D:1.10.1000.11,Pfam_domain:PF01369,hmmpanther:PTHR10663:SF63,hmmpanther:PTHR10663,PROSITE_profiles:PS50190		V/L		A		2141/5279			tolerated(0.75)				YES	IQSEC1,missense_variant,p.Val642Leu,ENST00000273221,NM_014869.5;IQSEC1,missense_variant,p.Val643Leu,ENST00000450726,;IQSEC1,missense_variant,p.Val628Leu,ENST00000429247,NM_001134382.2;							MODERATE	1924/2892		IQEC1_HUMAN			Transcript		benign(0.157)	.	ENSP00000273221		CCDS33703.1			1	
LDB2	0	LGGM	GRCh37	4	16504391	16504391	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	65	10	.	.	ENST00000304523.5:c.997G>A	p.Gly333Ser	p.G333S	ENST00000304523	NM_001290.3	333	Ggc/Agc	0	1	1	UPI0000073D86	0	getma.org/pdb.php?prot=LDB2_HUMAN&from=234&to=373&var=G333S	ENST00000304523		ENSG00000169744	6533	8.64E-05	75	1.435		HGNC	p.G331S	rs779101509	LDB2	6.06E-05	SNV							ENST00000515064	protein_coding	getma.org/?cm=var&var=hg19,4,16504391,C,T&fts=all		hmmpanther:PTHR10378,hmmpanther:PTHR10378:SF8		G/S		T	low	1321/2548		getma.org/?cm=msa&ty=f&p=LDB2_HUMAN&rb=234&re=373&var=G333S	tolerated(0.24)	Q4W5E7_HUMAN,D6RAT1_HUMAN			YES	LDB2,missense_variant,p.Gly333Ser,ENST00000304523,NM_001290.3;LDB2,missense_variant,p.Gly331Ser,ENST00000515064,;LDB2,missense_variant,p.Gly254Ser,ENST00000507464,;LDB2,3_prime_UTR_variant,,ENST00000502640,;LDB2,3_prime_UTR_variant,,ENST00000441778,NM_001130834.1;LDB2,downstream_gene_variant,,ENST00000503178,;RP11-446J8.1,intron_variant,,ENST00000512370,;LDB2,non_coding_transcript_exon_variant,,ENST00000509803,;LDB2,downstream_gene_variant,,ENST00000508918,;							MODERATE	997/1122	G333S	LDB2_HUMAN			Transcript		benign(0.042)	.	ENSP00000306772	1.65E-05	CCDS3420.1			1	
OTOGL	0	LGGM	GRCh37	12	80722463	80722463	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	41	10	.	.	ENST00000458043.2:c.4191C>A	p.Pro1397=	p.P1397=	ENST00000458043	NM_173591.3	1397	ccC/ccA	0	1		UPI00020CE39B	0		ENST00000547103		ENSG00000165899	26901		51			HGNC	p.P1397P		OTOGL		SNV			1				ENST00000458043	protein_coding			hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339,Gene3D:2.10.25.10		P		A		4197/8032				E2QRK2_HUMAN				OTOGL,synonymous_variant,p.=,ENST00000458043,NM_173591.3;OTOGL,synonymous_variant,p.=,ENST00000547103,;							LOW	4191/6999		OTOGL_HUMAN			Transcript			.	ENSP00000447211					1	
SPTB	0	LGGM	GRCh37	14	65263400	65263400	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	16	10	.	.	ENST00000389722.3:c.1216C>T	p.Arg406Trp	p.R406W	ENST00000389722	NM_001024858.2	406	Cgg/Tgg	0	1		UPI000053030C	0	getma.org/pdb.php?prot=SPTB1_HUMAN&from=302&to=412&var=R406W	ENST00000389721		ENSG00000070182	11274		26	3.585		HGNC	p.R406W	rs779318405	SPTB	6.06E-05	SNV			1				ENST00000542895	protein_coding	getma.org/?cm=var&var=hg19,14,65263400,G,A&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,Low_complexity_(Seg):seg,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/W		A	high	1249/6705	3.00E-05	getma.org/?cm=msa&ty=f&p=SPTB1_HUMAN&rb=302&re=412&var=R406W	deleterious(0)	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,O14726_HUMAN,O14725_HUMAN				SPTB,missense_variant,p.Arg406Trp,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Arg406Trp,ENST00000556626,;SPTB,missense_variant,p.Arg406Trp,ENST00000542895,;SPTB,missense_variant,p.Arg406Trp,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Arg406Trp,ENST00000389720,;							MODERATE	1216/6414	R406W	SPTB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000374371	2.47E-05	CCDS32100.1			1	
SLCO3A1	0	LGGM	GRCh37	15	92690301	92690301	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	38	10	.	.	ENST00000318445.6:c.1600G>A	p.Glu534Lys	p.E534K	ENST00000318445	NM_013272.3	534	Gag/Aag	0	1	1	UPI00001AF1F7	0	NA	ENST00000318445		ENSG00000176463	10952		48	-0.35		HGNC	p.E534K		SLCO3A1		SNV							ENST00000318445	protein_coding	getma.org/?cm=var&var=hg19,15,92690301,G,A&fts=all		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF9,Gene3D:1.20.1250.20,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805		E/K		A	neutral	1814/5115		getma.org/?cm=msa&ty=f&p=SO3A1_HUMAN&rb=39&re=623&var=E534K	tolerated(0.2)				YES	SLCO3A1,missense_variant,p.Glu534Lys,ENST00000318445,NM_013272.3;SLCO3A1,missense_variant,p.Glu534Lys,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,synonymous_variant,p.=,ENST00000555210,;SLCO3A1,synonymous_variant,p.=,ENST00000555892,;SLCO3A1,non_coding_transcript_exon_variant,,ENST00000553653,;							MODERATE	1600/2133	E534K	SO3A1_HUMAN			Transcript		benign(0.257)	.	ENSP00000320634		CCDS10371.1			1	
PPIL2	0	LGGM	GRCh37	22	22024892	22024892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	29	11	.	.	ENST00000412327.1:c.120C>A	p.Asp40Glu	p.D40E	ENST00000412327	NM_148176.2	40	gaC/gaA	0	1		UPI0000128C6F	0	NA	ENST00000335025		ENSG00000100023	9261		40	2.485		HGNC	p.D40E		PPIL2		SNV							ENST00000406385	protein_coding	getma.org/?cm=var&var=hg19,22,22024892,C,A&fts=all		Pfam_domain:PF04641,PROSITE_profiles:PS51698,Superfamily_domains:SSF57850		D/E		A	medium	211/4929		getma.org/?cm=msa&ty=f&p=PPIL2_HUMAN&rb=22&re=258&var=D40E	tolerated(0.12)					PPIL2,missense_variant,p.Asp40Glu,ENST00000335025,;PPIL2,missense_variant,p.Asp40Glu,ENST00000406385,;PPIL2,missense_variant,p.Asp40Glu,ENST00000412327,NM_148176.2,NM_148175.2,NM_014337.3;PPIL2,missense_variant,p.Asp40Glu,ENST00000398831,;PPIL2,missense_variant,p.Asp40Glu,ENST00000456792,;PPIL2,missense_variant,p.Asp40Glu,ENST00000492445,;PPIL2,missense_variant,p.Asp71Glu,ENST00000458567,;PPIL2,non_coding_transcript_exon_variant,,ENST00000484439,;PPIL2,downstream_gene_variant,,ENST00000498589,;PPIL2,upstream_gene_variant,,ENST00000485930,;PPIL2,3_prime_UTR_variant,,ENST00000417788,;PPIL2,non_coding_transcript_exon_variant,,ENST00000498109,;PPIL2,downstream_gene_variant,,ENST00000496819,;							MODERATE	120/1563	D40E	PPIL2_HUMAN			Transcript		benign(0.099)	.	ENSP00000334553		CCDS13793.1			1	
TTBK1	0	LGGM	GRCh37	6	43251228	43251228	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	19	11	.	.	ENST00000259750.4:c.2750C>G	p.Ala917Gly	p.A917G	ENST00000259750	NM_032538.1	917	gCa/gGa	0	1	1	UPI000041512B	0	NA	ENST00000259750		ENSG00000146216	19140		30	1.155		HGNC	p.A917G		TTBK1		SNV							ENST00000259750	protein_coding	getma.org/?cm=var&var=hg19,6,43251228,C,G&fts=all		Low_complexity_(Seg):seg		A/G		G	low	2833/6932		getma.org/?cm=msa&ty=f&p=TTBK1_HUMAN&rb=578&re=1319&var=A917G					YES	TTBK1,missense_variant,p.Ala917Gly,ENST00000259750,NM_032538.1;							MODERATE	2750/3966	A917G	TTBK1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000259750		CCDS34455.1			1	
LIMCH1	0	LGGM	GRCh37	4	41652448	41652448	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	22	11	.	.	ENST00000313860.7:c.1704T>C	p.His568=	p.H568=	ENST00000313860	NM_014988.2	568	caT/caC	0	1	1	UPI0000D61554	0		ENST00000313860		ENSG00000064042	29191		33			HGNC	p.H402H		LIMCH1		SNV							ENST00000381753	protein_coding			hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3		H		C		1758/6165				D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN			YES	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,;							LOW	1704/3252		LIMC1_HUMAN			Transcript			.	ENSP00000316891		CCDS33977.1			1	
SLC35F4	0	LGGM	GRCh37	14	58038736	58038736	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	30	11	.	.	ENST00000339762.6:c.917T>C	p.Ile306Thr	p.I306T	ENST00000339762		306	aTa/aCa	0	1	1	UPI00006C1432	0	NA	ENST00000339762		ENSG00000151812	19845		41	2.1		HGNC	p.I147T	rs758805273	SLC35F4	0.000159	SNV							ENST00000554729	protein_coding	getma.org/?cm=var&var=hg19,14,58038736,A,G&fts=all		Superfamily_domains:0043518,Pfam_domain:PF13536,hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF2,Transmembrane_helices:TMhelix		I/T		G	medium	917/1779		getma.org/?cm=msa&ty=f&p=S35F4_HUMAN&rb=228&re=329&var=I306T	deleterious(0)				YES	SLC35F4,missense_variant,p.Ile270Thr,ENST00000556826,NM_001206920.1;SLC35F4,missense_variant,p.Ile306Thr,ENST00000339762,;SLC35F4,missense_variant,p.Ile147Thr,ENST00000554729,;SLC35F4,splice_region_variant,,ENST00000557254,;SLC35F4,splice_region_variant,,ENST00000556306,;							MODERATE	917/1566	I306T	S35F4_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000342518	1.66E-05				1	
OTUD7A	0	LGGM	GRCh37	15	31795936	31795936	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	52	12	.	.	ENST00000307050.4:c.958G>C	p.Val320Leu	p.V320L	ENST00000307050	NM_130901.1	320	Gtt/Ctt	0	1	1	UPI0000073AA5	0	getma.org/pdb.php?prot=OTU7A_HUMAN&from=205&to=368&var=V320L	ENST00000307050		ENSG00000169918	20718		64	1.78		HGNC	p.V320L		OTUD7A		SNV							ENST00000307050	protein_coding	getma.org/?cm=var&var=hg19,15,31795936,C,G&fts=all		PROSITE_profiles:PS50802,hmmpanther:PTHR13367:SF9,hmmpanther:PTHR13367,Pfam_domain:PF02338		V/L		G	low	1051/3042		getma.org/?cm=msa&ty=f&p=OTU7A_HUMAN&rb=205&re=368&var=V320L	deleterious(0)	H0YN66_HUMAN			YES	OTUD7A,missense_variant,p.Val327Leu,ENST00000382902,;OTUD7A,missense_variant,p.Val320Leu,ENST00000307050,NM_130901.1;							MODERATE	958/2781	V320L	OTU7A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000305926		CCDS10026.1			1	
AP4B1	0	LGGM	GRCh37	1	114444429	114444429	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	33	14	.	.	ENST00000369569.1:c.417G>T	p.Val139=	p.V139=	ENST00000369569	NM_001253852.1	139	gtG/gtT	0	1		UPI0000072F63	0		ENST00000256658		ENSG00000134262	572		47			HGNC	p.V64V		AP4B1		SNV			1				ENST00000369564	protein_coding			Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF002291,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF4,Superfamily_domains:SSF48371		V		A		622/2742				B1ALD2_HUMAN				AP4B1,synonymous_variant,p.=,ENST00000369569,NM_001253852.1;AP4B1,synonymous_variant,p.=,ENST00000256658,NM_006594.3,NM_001253853.1;AP4B1,synonymous_variant,p.=,ENST00000369564,;AP4B1,synonymous_variant,p.=,ENST00000369571,;AP4B1,intron_variant,,ENST00000369567,;AP4B1,intron_variant,,ENST00000369566,;AP4B1,intron_variant,,ENST00000432415,;DCLRE1B,upstream_gene_variant,,ENST00000369563,NM_022836.3;AP4B1-AS1,downstream_gene_variant,,ENST00000419536,;AP4B1,non_coding_transcript_exon_variant,,ENST00000489499,;AP4B1,non_coding_transcript_exon_variant,,ENST00000484201,;AP4B1,non_coding_transcript_exon_variant,,ENST00000489092,;AP4B1,non_coding_transcript_exon_variant,,ENST00000472122,;DCLRE1B,upstream_gene_variant,,ENST00000466480,;AP4B1,upstream_gene_variant,,ENST00000462591,;AP4B1,upstream_gene_variant,,ENST00000479285,;AP4B1,upstream_gene_variant,,ENST00000479801,;AP4B1,upstream_gene_variant,,ENST00000460653,;							LOW	417/2220		AP4B1_HUMAN			Transcript			.	ENSP00000256658		CCDS865.1			1	
HIST1H4B	0	LGGM	GRCh37	6	26027421	26027421	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	42	14	.	.	ENST00000377364.3:c.60A>T	p.Arg20=	p.R20=	ENST00000377364	NM_003544.2	20	cgA/cgT	0	1	1	UPI000000003C	0		ENST00000377364		ENSG00000124529	4789		56			HGNC	p.R20R		HIST1H4B		SNV							ENST00000377364	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10484,Gene3D:1.10.20.10,SMART_domains:SM00417,Superfamily_domains:SSF47113,Prints_domain:PR00623		R		A		60/357				Q6B823_HUMAN,B2R4R0_HUMAN			YES	HIST1H4B,synonymous_variant,p.=,ENST00000377364,NM_003544.2;HIST1H3B,downstream_gene_variant,,ENST00000244661,NM_003537.3;							LOW	60/312		H4_HUMAN			Transcript			.	ENSP00000366581		CCDS4572.1			1	
PCDHB11	0	LGGM	GRCh37	5	140581346	140581346	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	31	14	.	.	ENST00000354757.3:c.1999T>C	p.Ser667Pro	p.S667P	ENST00000354757	NM_018931.2	667	Tcc/Ccc	0	1	1	UPI00001273E6	0	NA	ENST00000354757		ENSG00000197479	8682		45	0.675		HGNC	p.S667P		PCDHB11		SNV							ENST00000354757	protein_coding	getma.org/?cm=var&var=hg19,5,140581346,T,C&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF91,SMART_domains:SM00112		S/P		C	neutral	1999/3271		getma.org/?cm=msa&ty=f&p=PCDBB_HUMAN&rb=568&re=671&var=S667P	deleterious_low_confidence(0)	B4DSF7_HUMAN			YES	PCDHB11,missense_variant,p.Ser667Pro,ENST00000354757,NM_018931.2;PCDHB11,missense_variant,p.Ser302Pro,ENST00000536699,;							MODERATE	1999/2394	S667P	PCDBB_HUMAN			Transcript		benign(0.323)	.	ENSP00000346802		CCDS4253.1			1	
MCTP2	0	LGGM	GRCh37	15	94841554	94841554	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	56	15	.	.	ENST00000357742.4:c.60G>C	p.Leu20Phe	p.L20F	ENST00000357742	NM_018349.3	20	ttG/ttC	0	1	1	UPI0000D613A2	0	NA	ENST00000357742		ENSG00000140563	25636		71	0.895		HGNC	p.L20F		MCTP2		SNV			1				ENST00000456504	protein_coding	getma.org/?cm=var&var=hg19,15,94841554,G,C&fts=all		hmmpanther:PTHR16122,hmmpanther:PTHR16122:SF5		L/F		C	low	60/3965		getma.org/?cm=msa&ty=f&p=MCTP2_HUMAN&rb=1&re=195&var=L20F	tolerated_low_confidence(0.09)	Q9NPN6_HUMAN			YES	MCTP2,missense_variant,p.Leu20Phe,ENST00000357742,NM_018349.3;MCTP2,missense_variant,p.Leu20Phe,ENST00000451018,NM_001159643.1;MCTP2,missense_variant,p.Leu20Phe,ENST00000543482,;MCTP2,5_prime_UTR_variant,,ENST00000331706,;MCTP2,non_coding_transcript_exon_variant,,ENST00000561608,;MCTP2,missense_variant,p.Leu20Phe,ENST00000456504,;MCTP2,non_coding_transcript_exon_variant,,ENST00000556363,;							MODERATE	60/2637	L20F	MCTP2_HUMAN			Transcript		benign(0.179)	.	ENSP00000350377		CCDS32338.1			1	
NSUN5	0	LGGM	GRCh37	7	72722462	72722462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	36	16	.	.	ENST00000310326.8:c.182G>T	p.Arg61Leu	p.R61L	ENST00000310326		61	cGt/cTt	0	1		UPI0000071AE4	0	NA	ENST00000252594		ENSG00000130305	16385		52	1.5		HGNC	p.R61L		NSUN5		SNV							ENST00000310326	protein_coding	getma.org/?cm=var&var=hg19,7,72722462,C,A&fts=all		hmmpanther:PTHR22807,hmmpanther:PTHR22807:SF4		R/L		A	low	198/1672		getma.org/?cm=msa&ty=f&p=NSUN5_HUMAN&rb=1&re=163&var=R61L	deleterious(0.01)					NSUN5,missense_variant,p.Arg61Leu,ENST00000428206,NM_001168348.2;NSUN5,missense_variant,p.Arg61Leu,ENST00000252594,;NSUN5,missense_variant,p.Arg61Leu,ENST00000438747,NM_001168347.2,NM_148956.3,NM_018044.4;NSUN5,missense_variant,p.Arg61Leu,ENST00000310326,;TRIM50,downstream_gene_variant,,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,downstream_gene_variant,,ENST00000453152,NM_001281451.1;NSUN5,synonymous_variant,p.=,ENST00000455763,;NSUN5,non_coding_transcript_exon_variant,,ENST00000471461,;NSUN5,upstream_gene_variant,,ENST00000478977,;TRIM50,downstream_gene_variant,,ENST00000488217,;							MODERATE	182/1290	R61L	NSUN5_HUMAN			Transcript		benign(0.051)	.	ENSP00000252594		CCDS5547.1			1	
WBSCR27	0	LGGM	GRCh37	7	73249240	73249240	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	20	16	.	.	ENST00000297873.4:c.571G>C	p.Gly191Arg	p.G191R	ENST00000297873	NM_152559.2	191	Ggg/Cgg	0	1	1	UPI000013E466	0	NA	ENST00000297873		ENSG00000165171	19068		36	1.79		HGNC	p.G191R		WBSCR27		SNV							ENST00000297873	protein_coding	getma.org/?cm=var&var=hg19,7,73249240,C,G&fts=all		hmmpanther:PTHR10108,hmmpanther:PTHR10108:SF693,Superfamily_domains:SSF53335		G/R		G	low	621/941		getma.org/?cm=msa&ty=f&p=WBS27_HUMAN&rb=169&re=245&var=G191R	tolerated(0.07)				YES	WBSCR27,missense_variant,p.Gly191Arg,ENST00000297873,NM_152559.2;CLDN4,downstream_gene_variant,,ENST00000435050,;CLDN4,downstream_gene_variant,,ENST00000431918,;CLDN4,downstream_gene_variant,,ENST00000340958,NM_001305.3;WBSCR27,downstream_gene_variant,,ENST00000493174,;WBSCR27,downstream_gene_variant,,ENST00000458679,;							MODERATE	571/738	G191R	WBS27_HUMAN			Transcript		benign(0.242)	.	ENSP00000297873		CCDS5561.1			1	
C20orf24	0	LGGM	GRCh37	20	35240500	35240500	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	205	17	.	.	ENST00000342422.3:c.306C>G	p.Leu102=	p.L102=	ENST00000342422	NM_199483.2	102	ctC/ctG	0	1		UPI00001285D5	0		ENST00000373852		ENSG00000101084	15870		222			HGNC	p.L102L		C20orf24		SNV							ENST00000342422	protein_coding							G		599/1059								C20orf24,synonymous_variant,p.=,ENST00000342422,NM_199483.2;C20orf24,3_prime_UTR_variant,,ENST00000344795,NM_018840.4,NM_001199534.1;C20orf24,3_prime_UTR_variant,,ENST00000373852,;TGIF2-C20orf24,3_prime_UTR_variant,,ENST00000558530,NM_001199535.1;SLA2,downstream_gene_variant,,ENST00000262866,NM_175077.2,NM_032214.3;SLA2,downstream_gene_variant,,ENST00000360672,;C20orf24,3_prime_UTR_variant,,ENST00000483815,;C20orf24,3_prime_UTR_variant,,ENST00000492721,;C20orf24,non_coding_transcript_exon_variant,,ENST00000494506,;C20orf24,downstream_gene_variant,,ENST00000491113,;							MODIFIER	-/414		CT024_HUMAN			Transcript			.	ENSP00000362958		CCDS56190.1			1	
OR10J3	0	LGGM	GRCh37	1	159284124	159284124	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	59	18	.	.	ENST00000332217.5:c.326G>A	p.Gly109Asp	p.G109D	ENST00000332217	NM_001004467.1	109	gGc/gAc	0	1	1	UPI0000441EEF	0	getma.org/pdb.php?prot=O10J3_HUMAN&from=1&to=139&var=G109D	ENST00000332217		ENSG00000196266	14992		77	4.02		HGNC	p.G109D		OR10J3		SNV							ENST00000332217	protein_coding	getma.org/?cm=var&var=hg19,1,159284124,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF28,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		G/D		T	high	326/990		getma.org/?cm=msa&ty=f&p=O10J3_HUMAN&rb=1&re=139&var=G109D	deleterious(0.01)				YES	OR10J3,missense_variant,p.Gly109Asp,ENST00000332217,NM_001004467.1;							MODERATE	326/990	G109D	O10J3_HUMAN			Transcript		benign(0.12)	.	ENSP00000331789		CCDS30909.1			1	
TTN	0	LGGM	GRCh37	2	179434499	179434499	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	75	19	.	.	ENST00000589042.1:c.76360A>G	p.Met25454Val	p.M25454V	ENST00000589042	NM_001267550.1	25454	Atg/Gtg	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=23766&to=23852&var=M23813V	ENST00000591111		ENSG00000155657	12403		94	-0.305		HGNC	p.M16514V		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179434499,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		M/V		C	neutral	71662/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=23766&re=23852&var=M23813V		C9JQJ2_HUMAN				TTN,missense_variant,p.Met25454Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Met23813Val,ENST00000591111,;TTN,missense_variant,p.Met22886Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Met16581Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Met16514Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Met16389Val,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,;							MODERATE	71437/103053	M23813V	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
VNN1	0	LGGM	GRCh37	6	133032945	133032945	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	36	20	.	.	ENST00000367928.4:c.244A>G	p.Ile82Val	p.I82V	ENST00000367928	NM_004666.2	82	Att/Gtt	0	1	1	UPI000013C91E	0	getma.org/pdb.php?prot=VNN1_HUMAN&from=27&to=261&var=I82V	ENST00000367928		ENSG00000112299	12705		56	1.36		HGNC	p.I82V		VNN1		SNV							ENST00000367928	protein_coding	getma.org/?cm=var&var=hg19,6,133032945,T,C&fts=all		Gene3D:3.60.110.10,Pfam_domain:PF00795,PIRSF_domain:PIRSF011861,PROSITE_profiles:PS50263,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF4,Superfamily_domains:SSF56317		I/V		C	low	258/3106		getma.org/?cm=msa&ty=f&p=VNN1_HUMAN&rb=27&re=261&var=I82V	deleterious(0.04)				YES	VNN1,missense_variant,p.Ile82Val,ENST00000367928,NM_004666.2;							MODERATE	244/1542	I82V	VNN1_HUMAN			Transcript		benign(0.014)	.	ENSP00000356905		CCDS5159.1			1	
ABCA13	0	LGGM	GRCh37	7	48314083	48314083	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110129	H110129N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	70	21	.	.	ENST00000435803.1:c.4820G>A	p.Ser1607Asn	p.S1607N	ENST00000435803	NM_152701.3	1607	aGc/aAc	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		91	-0.955		HGNC	p.S1607N		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48314083,G,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		S/N		A	neutral	4844/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=1601&re=1800&var=S1607N					YES	ABCA13,missense_variant,p.Ser1607Asn,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							MODERATE	4820/15177	S1607N	ABCAD_HUMAN			Transcript		benign(0)	.	ENSP00000411096		CCDS47584.1			1	
CDH10	0	LGGM	GRCh37	5	24487821	24487821	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110129	H110129N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	64	21	.	.	ENST00000264463.4:c.2318A>T	p.Asn773Ile	p.N773I	ENST00000264463	NM_006727.3	773	aAt/aTt	0	1	1	UPI0000167B7B	0	getma.org/pdb.php?prot=CAD10_HUMAN&from=635&to=782&var=N773I	ENST00000264463		ENSG00000040731	1749		85	1.24		HGNC	p.N773I		CDH10		SNV							ENST00000264463	protein_coding	getma.org/?cm=var&var=hg19,5,24487821,T,A&fts=all		Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF293		N/I		A	low	2826/3438		getma.org/?cm=msa&ty=f&p=CAD10_HUMAN&rb=635&re=782&var=N773I	deleterious(0)				YES	CDH10,missense_variant,p.Asn773Ile,ENST00000264463,NM_006727.3;CDH10,non_coding_transcript_exon_variant,,ENST00000502921,;CDH10,3_prime_UTR_variant,,ENST00000510477,;CDH10,non_coding_transcript_exon_variant,,ENST00000503958,;							MODERATE	2318/2367	N773I	CAD10_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000264463		CCDS3892.1			1	
PCDHB8	0	LGGM	GRCh37	5	140559195	140559195	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	122	22	.	.	ENST00000239444.2:c.1580C>A	p.Ala527Glu	p.A527E	ENST00000239444	NM_019120.3	527	gCg/gAg	0	1	1	UPI000013CA80	0	getma.org/pdb.php?prot=PCDB8_HUMAN&from=457&to=553&var=A527E	ENST00000239444		ENSG00000120322	8693		144	-0.72		HGNC	p.A527E	rs550109182,COSM589861	PCDHB8		SNV						0,1	ENST00000239444	protein_coding	getma.org/?cm=var&var=hg19,5,140559195,C,A&fts=all	G:0	Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF89,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/E		A	neutral	1825/2711		getma.org/?cm=msa&ty=f&p=PCDB8_HUMAN&rb=457&re=553&var=A527E	tolerated_low_confidence(0.12)		G:0	G:0	YES	PCDHB8,missense_variant,p.Ala527Glu,ENST00000239444,NM_019120.3;PCDHB16,upstream_gene_variant,,ENST00000361016,NM_020957.1;PCDHB7,downstream_gene_variant,,ENST00000231137,NM_018940.2;		G:0.0002			0,1		MODERATE	1580/2406	A527E	PCDB8_HUMAN	0.000302	G:0.001	Transcript		benign(0.003)	.	ENSP00000239444	1.65E-05	CCDS4250.1		G:0	1	
COL12A1	0	LGGM	GRCh37	6	75890675	75890675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	58	23	.	.	ENST00000322507.8:c.2144G>T	p.Gly715Val	p.G715V	ENST00000322507	NM_004370.5	715	gGa/gTa	0	1	1	UPI000045890B	0	getma.org/pdb.php?prot=COCA1_HUMAN&from=631&to=719&var=G715V	ENST00000322507		ENSG00000111799	2188		81	2.645		HGNC	p.G715V		COL12A1		SNV			1				ENST00000322507	protein_coding	getma.org/?cm=var&var=hg19,6,75890675,C,A&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF23,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Superfamily_domains:SSF49265		G/V		A	medium	2454/11723		getma.org/?cm=msa&ty=f&p=COCA1_HUMAN&rb=631&re=719&var=G715V					YES	COL12A1,missense_variant,p.Gly715Val,ENST00000322507,NM_004370.5;COL12A1,missense_variant,p.Gly715Val,ENST00000483888,;COL12A1,missense_variant,p.Gly715Val,ENST00000416123,;COL12A1,intron_variant,,ENST00000345356,NM_080645.2;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,;							MODERATE	2144/9192	G715V	COCA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000325146		CCDS43482.1			1	
MRPL17	0	LGGM	GRCh37	11	6703467	6703467	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	29	24	.	.	ENST00000288937.6:c.410G>A	p.Arg137His	p.R137H	ENST00000288937	NM_022061.3	137	cGc/cAc	0	1	1	UPI0000070867	0	NA	ENST00000288937		ENSG00000158042	14053		53	0.255		HGNC	p.R137H		MRPL17		SNV							ENST00000288937	protein_coding	getma.org/?cm=var&var=hg19,11,6703467,C,T&fts=all		hmmpanther:PTHR14413		R/H		T	neutral	515/1969		getma.org/?cm=msa&ty=f&p=RM17_HUMAN&rb=127&re=175&var=R137H	tolerated(0.17)				YES	MRPL17,missense_variant,p.Arg137His,ENST00000288937,NM_022061.3;MRPL17,missense_variant,p.Arg114His,ENST00000532203,;MRPL17,non_coding_transcript_exon_variant,,ENST00000532676,;MRPL17,non_coding_transcript_exon_variant,,ENST00000529958,;RP11-732A19.1,downstream_gene_variant,,ENST00000464563,;							MODERATE	410/528	R137H	RM17_HUMAN			Transcript		benign(0.006)	.	ENSP00000288937		CCDS31412.1			1	
COX5B	0	LGGM	GRCh37	2	98263886	98263886	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	72	26	.	.	ENST00000258424.2:c.257A>G	p.Lys86Arg	p.K86R	ENST00000258424	NM_001862.2	86	aAg/aGg	0	1	1	UPI0000128135	0	getma.org/pdb.php?prot=COX5B_HUMAN&from=3&to=129&var=K86R	ENST00000258424		ENSG00000135940	2269		98	2.035		HGNC	p.K86R		COX5B		SNV							ENST00000258424	protein_coding	getma.org/?cm=var&var=hg19,2,98263886,A,G&fts=all		Gene3D:1v54F00,Pfam_domain:PF01215,PROSITE_profiles:PS51359,hmmpanther:PTHR10122,Superfamily_domains:SSF57802		K/R		G	medium	304/712		getma.org/?cm=msa&ty=f&p=COX5B_HUMAN&rb=3&re=129&var=K86R	deleterious(0.05)				YES	COX5B,missense_variant,p.Lys86Arg,ENST00000258424,NM_001862.2;COX5B,non_coding_transcript_exon_variant,,ENST00000464949,;COX5B,non_coding_transcript_exon_variant,,ENST00000491989,;COX5B,downstream_gene_variant,,ENST00000494306,;							MODERATE	257/390	K86R	COX5B_HUMAN			Transcript		benign(0.139)	.	ENSP00000258424		CCDS2032.1			1	
OR52E6	0	LGGM	GRCh37	11	5862276	5862276	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	65	29	.	.	ENST00000329322.5:c.852T>C	p.Val284=	p.V284=	ENST00000329322	NM_001005167.1	284	gtT/gtC	0	1	1	UPI00000015AE	0		ENST00000329322		ENSG00000205409	15215		94			HGNC	p.V288V		OR52E6		SNV							ENST00000379946	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF45,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		G		852/970							YES	OR52E6,synonymous_variant,p.=,ENST00000329322,NM_001005167.1;OR52E6,synonymous_variant,p.=,ENST00000379946,;TRIM5,intron_variant,,ENST00000380027,;TRIM5,intron_variant,,ENST00000412903,;							LOW	852/942		O52E6_HUMAN			Transcript			.	ENSP00000328878		CCDS53597.1			1	
CLCN4	0	LGGM	GRCh37	X	10188827	10188827	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	26	37	.	.	ENST00000380833.4:c.2102C>T	p.Pro701Leu	p.P701L	ENST00000380833	NM_001830.3	701	cCg/cTg	0	1	1	UPI0000127A99	0	getma.org/pdb.php?prot=CLCN4_HUMAN&from=693&to=748&var=P701L	ENST00000380833		ENSG00000073464	2022		63	2.605		HGNC	p.P701L	rs763898442	CLCN4		SNV							ENST00000380833	protein_coding	getma.org/?cm=var&var=hg19,X,10188827,C,T&fts=all		PROSITE_profiles:PS51371,hmmpanther:PTHR11689:SF18,hmmpanther:PTHR11689,Pfam_domain:PF00571,Gene3D:3.10.580.10,SMART_domains:SM00116,Superfamily_domains:SSF54631		P/L		T	medium	2493/6750	2.08E-05	getma.org/?cm=msa&ty=f&p=CLCN4_HUMAN&rb=693&re=748&var=P701L	deleterious(0.01)	Q75N13_HUMAN,B7Z5Z4_HUMAN			YES	CLCN4,missense_variant,p.Pro701Leu,ENST00000380833,NM_001830.3,NM_001256944.1;CLCN4,missense_variant,p.Pro670Leu,ENST00000380829,;CLCN4,missense_variant,p.Pro607Leu,ENST00000421085,;AC003666.1,upstream_gene_variant,,ENST00000410201,;							MODERATE	2102/2283	P701L	CLCN4_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000370213	1.65E-05	CCDS14137.1			1	
COPA	0	LGGM	GRCh37	1	160309721	160309721	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110129	H110129N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	41	37	.	.	ENST00000368069.3:c.206G>T	p.Gly69Val	p.G69V	ENST00000368069		69	gGa/gTa	0	1		UPI000013CAD9	0	NA	ENST00000241704		ENSG00000122218	2230		78	1.905		HGNC	p.G69V		COPA		SNV							ENST00000368069	protein_coding	getma.org/?cm=var&var=hg19,1,160309721,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF003354,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19876,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/V		A	medium	436/4789		getma.org/?cm=msa&ty=f&p=COPA_HUMAN&rb=41&re=79&var=G69V	deleterious(0)					COPA,missense_variant,p.Gly69Val,ENST00000241704,NM_004371.3,NM_001098398.1;COPA,missense_variant,p.Gly69Val,ENST00000368069,;NCSTN,upstream_gene_variant,,ENST00000368063,;NCSTN,upstream_gene_variant,,ENST00000294785,NM_015331.2;NCSTN,upstream_gene_variant,,ENST00000392212,;NCSTN,upstream_gene_variant,,ENST00000535857,;NCSTN,upstream_gene_variant,,ENST00000421914,;NCSTN,upstream_gene_variant,,ENST00000438008,;NCSTN,upstream_gene_variant,,ENST00000437169,;NCSTN,upstream_gene_variant,,ENST00000467837,;NCSTN,upstream_gene_variant,,ENST00000465223,;NCSTN,upstream_gene_variant,,ENST00000491332,;COPA,non_coding_transcript_exon_variant,,ENST00000541366,;COPA,non_coding_transcript_exon_variant,,ENST00000545266,;							MODERATE	206/3675	G69V	COPA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000241704		CCDS1202.1			1	
HMCN1	0	LGGM	GRCh37	1	185959490	185959490	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110129	H110129N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110129N.bam, H110129T.bam	Illumina HiSeq	145	55	.	.	ENST00000271588.4:c.3292A>G	p.Thr1098Ala	p.T1098A	ENST00000271588	NM_031935.2	1098	Aca/Gca	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=1082&to=1167&var=T1098A	ENST00000271588		ENSG00000143341	19194		200	1.825		HGNC	p.T1098A	rs369454087	HMCN1		SNV	G:0		1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,185959490,A,G&fts=all		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		T/A	G:0.0001	G	low	3521/18208	1.50E-05	getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=1082&re=1167&var=T1098A					YES	HMCN1,missense_variant,p.Thr1098Ala,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Thr1098Ala,ENST00000367492,;HMCN1,non_coding_transcript_exon_variant,,ENST00000485744,;							MODERATE	3292/16908	T1098A	HMCN1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000271588	8.24E-06	CCDS30956.1			1	
NEUROG2	0	LGGM	GRCh37	4	113436409	113436409	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	4	2	.	.	ENST00000313341.3:c.223C>T	p.Arg75Trp	p.R75W	ENST00000313341	NM_024019.3	75	Cgg/Tgg	0	1	1	UPI000006ED59	0	NA	ENST00000313341		ENSG00000178403	13805		6	0.55		HGNC	p.R75W		NEUROG2		SNV							ENST00000313341	protein_coding	getma.org/?cm=var&var=hg19,4,113436409,G,A&fts=all		hmmpanther:PTHR19290:SF87,hmmpanther:PTHR19290		R/W		A	neutral	550/2287		getma.org/?cm=msa&ty=f&p=NGN2_HUMAN&rb=1&re=112&var=R75W	deleterious_low_confidence(0)				YES	NEUROG2,missense_variant,p.Arg75Trp,ENST00000313341,NM_024019.3;RP11-402J6.1,upstream_gene_variant,,ENST00000506057,;RP11-402J6.1,upstream_gene_variant,,ENST00000504009,;							MODERATE	223/819	R75W	NGN2_HUMAN			Transcript		benign(0.187)	.	ENSP00000317333		CCDS3698.1			1	
RYR1	0	LGGM	GRCh37	19	38964252	38964252	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	4	2	.	.	ENST00000359596.3:c.4001del	p.Leu1334ArgfsTer64	p.L1334Rfs*64	ENST00000359596		1334	cTg/cg	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		6			HGNC	p.L1334fs		RYR1		deletion			1				ENST00000355481	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		L/X		-		4001/15117				O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,frameshift_variant,p.Leu1334ArgfsTer64,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,frameshift_variant,p.Leu1334ArgfsTer64,ENST00000360985,;RYR1,frameshift_variant,p.Leu1334ArgfsTer64,ENST00000359596,;							HIGH	4001/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
DNAH8	0	LGGM	GRCh37	6	38890878	38890878	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	16	2	.	.	ENST00000359357.3:c.10056C>A	p.Ala3352=	p.A3352=	ENST00000359357		3352	gcC/gcA	0	1	1	UPI00003677EB	0		ENST00000359357		ENSG00000124721	2952		18			HGNC	p.A3316A		DNAH8		SNV							ENST00000441566	protein_coding			Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		A		A		10310/13860							YES	DNAH8,synonymous_variant,p.=,ENST00000327475,NM_001206927.1;DNAH8,synonymous_variant,p.=,ENST00000359357,;DNAH8,synonymous_variant,p.=,ENST00000441566,;DNAH8,synonymous_variant,p.=,ENST00000449981,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000416948,;RP1-207H1.3,non_coding_transcript_exon_variant,,ENST00000418399,;RP1-207H1.2,upstream_gene_variant,,ENST00000407768,;							LOW	10056/13473		DYH8_HUMAN			Transcript			.	ENSP00000352312					1	
TMEM184A	0	LGGM	GRCh37	7	1586662	1586663	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC	novel	by Submitter	H110134	H110134N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	8	3	.	.	ENST00000297477.5:c.1167_1168insGGC	p.Pro389_Ser390insGly	p.P389_S390insG	ENST00000297477	NM_001097620.1	389	-/GGC	0	1	1	UPI000013E413	0		ENST00000297477		ENSG00000164855	28797		11			HGNC	p.S390delinsGS	TMP_ESP_7_1586663_1586662,COSM1449635	TMEM184A		insertion	GCC:0.4684					0,1	ENST00000297477	protein_coding			hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20		-/G	GCC:0.4789	GCC		1484-1485/6276				C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN			YES	TMEM184A,inframe_insertion,p.Pro389_Ser390insGly,ENST00000297477,NM_001097620.1;MAFK,downstream_gene_variant,,ENST00000343242,NM_002360.3;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,;MAFK,downstream_gene_variant,,ENST00000403150,;TMEM184A,downstream_gene_variant,,ENST00000474813,;TMEM184A,downstream_gene_variant,,ENST00000421923,;					0,1		MODERATE	1167-1168/1242		T184A_HUMAN			Transcript			.	ENSP00000297477		CCDS43537.1			1	
PKN1	0	LGGM	GRCh37	19	14554401	14554401	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	10	3	.	.	ENST00000342216.4:c.460A>G	p.Met154Val	p.M154V	ENST00000342216	NM_213560.1	154	Atg/Gtg	0	1		UPI000013CB15	0	getma.org/pdb.php?prot=PKN1_HUMAN&from=126&to=198&var=M148V	ENST00000242783		ENSG00000123143	9405		13	2.36		HGNC	p.M160V	rs760067248	PKN1		SNV							ENST00000586557	protein_coding	getma.org/?cm=var&var=hg19,19,14554401,A,G&fts=all		hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF69,Gene3D:1.10.287.160,Pfam_domain:PF02185,SMART_domains:SM00742,Superfamily_domains:SSF46585		M/V		G	medium	607/3069	6.17E-05	getma.org/?cm=msa&ty=f&p=PKN1_HUMAN&rb=126&re=198&var=M148V	deleterious(0.04)					PKN1,start_lost,p.Met1?,ENST00000585619,;PKN1,missense_variant,p.Met148Val,ENST00000242783,NM_002741.3;PKN1,missense_variant,p.Met154Val,ENST00000342216,NM_213560.1;PKN1,missense_variant,p.Met160Val,ENST00000586557,;PKN1,missense_variant,p.Met160Val,ENST00000590097,;PKN1,non_coding_transcript_exon_variant,,ENST00000587429,;PKN1,downstream_gene_variant,,ENST00000592794,;PKN1,non_coding_transcript_exon_variant,,ENST00000585839,;							MODERATE	442/2829	M148V	PKN1_HUMAN			Transcript		benign(0.12)	.	ENSP00000242783	3.29E-05	CCDS42513.1			1	
FRY	0	LGGM	GRCh37	13	32605943	32605943	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	4	3	.	.	ENST00000380250.3:c.11A>G	p.Gln4Arg	p.Q4R	ENST00000380250	NM_023037.2	4	cAg/cGg	0	1	1	UPI000046FD40	0	NA	ENST00000380250		ENSG00000073910	20367		7	1.7		HGNC	p.Q4R	rs768964967	FRY		SNV							ENST00000380250	protein_coding	getma.org/?cm=var&var=hg19,13,32605943,A,G&fts=all		hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29		Q/R		G	low	507/10735		getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=1&re=163&var=Q4R	tolerated_low_confidence(0.06)	Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,missense_variant,p.Gln4Arg,ENST00000380250,NM_023037.2;FRY-AS1,upstream_gene_variant,,ENST00000428419,;FRY,non_coding_transcript_exon_variant,,ENST00000463566,;							MODERATE	Nov-42	Q4R	FRY_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000369600		CCDS41875.1			1	
ZNF48	0	LGGM	GRCh37	16	30409275	30409275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	30	3	.	.	ENST00000320159.2:c.704G>A	p.Arg235His	p.R235H	ENST00000320159	NM_152652.2	235	cGc/cAc	0	1	1	UPI000013E982	0	NA	ENST00000320159		ENSG00000180035	13114		33	1.665		HGNC	p.R235H	COSM703295	ZNF48		SNV						1	ENST00000320159	protein_coding	getma.org/?cm=var&var=hg19,16,30409275,G,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF18,PROSITE_profiles:PS50157		R/H		A	low	1080/3234		getma.org/?cm=msa&ty=f&p=ZNF48_HUMAN&rb=232&re=288&var=R235H	deleterious(0.02)	E9PQ92_HUMAN,E9PJ50_HUMAN			YES	ZNF48,missense_variant,p.Arg235His,ENST00000320159,NM_152652.2,NM_001214907.1,NM_001214909.1,NM_001214906.1;ZNF48,downstream_gene_variant,,ENST00000524644,;ZNF48,downstream_gene_variant,,ENST00000528032,;ZNF48,downstream_gene_variant,,ENST00000495929,;SEPT1,upstream_gene_variant,,ENST00000570039,;SEPT1,upstream_gene_variant,,ENST00000567783,;					1		MODERATE	704/1857	R235H	ZNF48_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000324056		CCDS10679.1			1	
LDLR	0	LGGM	GRCh37	19	11233852	11233852	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	32	3	.	.	ENST00000558518.1:c.2143G>T	p.Ala715Ser	p.A715S	ENST00000558518	NM_001195798.1	715	Gct/Tct	0	1	1	UPI00000015DF	0	getma.org/pdb.php?prot=LDLR_HUMAN&from=657&to=856&var=A715S	ENST00000558518		ENSG00000130164	6547		35	0.835		HGNC	p.A547S		LDLR		SNV			1				ENST00000455727	protein_coding	getma.org/?cm=var&var=hg19,19,11233852,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF195		A/S		T	low	2330/3617		getma.org/?cm=msa&ty=f&p=LDLR_HUMAN&rb=657&re=856&var=A715S	tolerated(0.41)	Q6LCH2_HUMAN,E1B4S5_HUMAN			YES	LDLR,missense_variant,p.Ala800Ser,ENST00000252444,;LDLR,missense_variant,p.Ala715Ser,ENST00000558518,NM_001195798.1,NM_000527.4;LDLR,missense_variant,p.Ala715Ser,ENST00000558013,;LDLR,missense_variant,p.Ala715Ser,ENST00000557933,;LDLR,missense_variant,p.Ala674Ser,ENST00000535915,NM_001195799.1;LDLR,missense_variant,p.Ala537Ser,ENST00000545707,NM_001195803.1;LDLR,missense_variant,p.Ala547Ser,ENST00000455727,NM_001195800.1;LDLR,upstream_gene_variant,,ENST00000560628,;LDLR,downstream_gene_variant,,ENST00000559340,;							MODERATE	2143/2583	A715S	LDLR_HUMAN			Transcript		benign(0.002)	.	ENSP00000454071		CCDS12254.1			1	
TGFB2	0	LGGM	GRCh37	1	218609479	218609479	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	81	4	.	.	ENST00000366929.4:c.1006T>C	p.Tyr336His	p.Y336H	ENST00000366929	NM_001135599.2	336	Tat/Cat	0	1		UPI000002BEF5	0	NA	ENST00000366930		ENSG00000092969	11768		85	1.625		HGNC	p.Y336H		TGFB2		SNV			1				ENST00000366929	protein_coding	getma.org/?cm=var&var=hg19,1,218609479,T,C&fts=all		Superfamily_domains:SSF57501,PIRSF_domain:PIRSF001787,Gene3D:2.10.90.10,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF141,PROSITE_profiles:PS51362		Y/H		C	low	1389/4969		getma.org/?cm=msa&ty=f&p=TGFB2_HUMAN&rb=282&re=313&var=Y308H	deleterious(0.01)					TGFB2,missense_variant,p.Tyr336His,ENST00000366929,NM_001135599.2;TGFB2,missense_variant,p.Tyr308His,ENST00000366930,NM_003238.3;TGFB2,non_coding_transcript_exon_variant,,ENST00000479322,;TGFB2,downstream_gene_variant,,ENST00000488793,;							MODERATE	922/1245	Y308H	TGFB2_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000355897		CCDS1521.1			1	
SLITRK3	0	LGGM	GRCh37	3	164906124	164906124	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	66	4	.	.	ENST00000475390.1:c.2495C>T	p.Thr832Met	p.T832M	ENST00000475390		832	aCg/aTg	0	1		UPI000004F259	0	NA	ENST00000241274		ENSG00000121871	23501		70	0.55		HGNC	p.T832M	rs745603572,COSM72734	SLITRK3		SNV						0,1	ENST00000475390	protein_coding	getma.org/?cm=var&var=hg19,3,164906124,G,A&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF14,Low_complexity_(Seg):seg		T/M		A	neutral	2777/4391	1.50E-05	getma.org/?cm=msa&ty=f&p=SLIK3_HUMAN&rb=740&re=939&var=T832M	tolerated(0.11)	C9K0R4_HUMAN				SLITRK3,missense_variant,p.Thr832Met,ENST00000475390,;SLITRK3,missense_variant,p.Thr832Met,ENST00000241274,NM_014926.2;SLITRK3,downstream_gene_variant,,ENST00000497724,;					0,1		MODERATE	2495/2934	T832M	SLIK3_HUMAN			Transcript		possibly_damaging(0.451)	.	ENSP00000241274	8.24E-06	CCDS3197.1			1	
SEZ6L	0	LGGM	GRCh37	22	26747060	26747060	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	55	5	.	.	ENST00000248933.6:c.2450G>A	p.Arg817His	p.R817H	ENST00000248933		817	cGc/cAc	0	1	1	UPI0000136779	0	NA	ENST00000248933		ENSG00000100095	10763		60	2.19		HGNC	p.R817H	COSM1565981	SEZ6L		SNV						1	ENST00000529632	protein_coding	getma.org/?cm=var&var=hg19,22,26747060,G,A&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF81,SMART_domains:SM00032,Superfamily_domains:SSF57535		R/H		A	medium	2545/3248		getma.org/?cm=msa&ty=f&p=SE6L1_HUMAN&rb=806&re=865&var=R817H	deleterious(0)				YES	SEZ6L,missense_variant,p.Arg817His,ENST00000529632,NM_001184777.1,NM_001184775.1,NM_001184774.1;SEZ6L,missense_variant,p.Arg817His,ENST00000404234,NM_001184773.1,NM_021115.4;SEZ6L,missense_variant,p.Arg590His,ENST00000402979,;SEZ6L,missense_variant,p.Arg817His,ENST00000248933,;SEZ6L,missense_variant,p.Arg590His,ENST00000403121,;SEZ6L,missense_variant,p.Arg817His,ENST00000343706,;SEZ6L,missense_variant,p.Arg14His,ENST00000411842,;SEZ6L,intron_variant,,ENST00000360929,NM_001184776.1;SEZ6L,non_coding_transcript_exon_variant,,ENST00000483291,;					1		MODERATE	2450/3075	R817H	SE6L1_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000248933		CCDS13833.1			1	
MACF1	0	LGGM	GRCh37	1	39757627	39757627	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	27	5	.	.	ENST00000545844.1:c.1846G>T	p.Glu616Ter	p.E616*	ENST00000545844		616	Gag/Tag	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		32	0		HGNC	p.E611X		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39757627,G,T&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		E/*		T	NA	1933/23440		NA		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,stop_gained,p.Glu611Ter,ENST00000564288,;MACF1,stop_gained,p.Glu648Ter,ENST00000567887,;MACF1,stop_gained,p.Glu616Ter,ENST00000372915,;MACF1,stop_gained,p.Glu616Ter,ENST00000545844,;MACF1,stop_gained,p.Glu616Ter,ENST00000317713,;MACF1,stop_gained,p.Glu616Ter,ENST00000361689,NM_012090.5;MACF1,stop_gained,p.Glu616Ter,ENST00000539005,;MACF1,stop_gained,p.Glu765Ter,ENST00000530262,;MACF1,stop_gained,p.Glu574Ter,ENST00000524432,;MACF1,stop_gained,p.Glu776Ter,ENST00000496804,;MACF1,downstream_gene_variant,,ENST00000484393,;							HIGH	1846/22167	E616*	MACF1_HUMAN			Transcript			.	ENSP00000362006					1	
ZNF28	0	LGGM	GRCh37	19	53304095	53304095	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	57	5	.	.	ENST00000457749.2:c.1003G>A	p.Ala335Thr	p.A335T	ENST00000457749	NM_006969.3	335	Gct/Act	0	1	1	UPI00001D8190	0	getma.org/pdb.php?prot=ZNF28_HUMAN&from=321&to=340&var=A335T	ENST00000457749		ENSG00000198538	13073		62	-0.31		HGNC	p.A282T		ZNF28		SNV							ENST00000360272	protein_coding	getma.org/?cm=var&var=hg19,19,53304095,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF226,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		A/T		T	neutral	1123/4556		getma.org/?cm=msa&ty=f&p=ZNF28_HUMAN&rb=291&re=370&var=A335T	tolerated(0.34)	C9K0H3_HUMAN			YES	ZNF28,missense_variant,p.Ala282Thr,ENST00000438150,;ZNF28,missense_variant,p.Ala335Thr,ENST00000457749,NM_006969.3;ZNF28,missense_variant,p.Ala282Thr,ENST00000360272,;ZNF28,missense_variant,p.Ala282Thr,ENST00000414252,;ZNF28,missense_variant,p.Ala282Thr,ENST00000391783,;ZNF28,downstream_gene_variant,,ENST00000594602,;ZNF28,downstream_gene_variant,,ENST00000339844,;ZNF28,downstream_gene_variant,,ENST00000596559,;							MODERATE	1003/2157	A335T	ZNF28_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000397693		CCDS33093.2			1	
SULF1	0	LGGM	GRCh37	8	70540408	70540408	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	72	6	.	.	ENST00000260128.4:c.2045A>G	p.Tyr682Cys	p.Y682C	ENST00000260128	NM_015170.2	682	tAt/tGt	0	1	1	UPI000003FD82	0	NA	ENST00000260128		ENSG00000137573	20391		78	2.28		HGNC	p.Y682C		SULF1		SNV							ENST00000458141	protein_coding	getma.org/?cm=var&var=hg19,8,70540408,A,G&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF210,PIRSF_domain:PIRSF036665		Y/C		G	medium	2762/5710		getma.org/?cm=msa&ty=f&p=SULF1_HUMAN&rb=681&re=871&var=Y682C	tolerated(0.06)	Q96E28_HUMAN,E9PS14_HUMAN,E9PPQ3_HUMAN,E9PLS5_HUMAN,E9PJL8_HUMAN,E9PI06_HUMAN			YES	SULF1,missense_variant,p.Tyr682Cys,ENST00000260128,NM_015170.2;SULF1,missense_variant,p.Tyr682Cys,ENST00000458141,NM_001128204.1;SULF1,missense_variant,p.Tyr682Cys,ENST00000402687,NM_001128205.1;SULF1,missense_variant,p.Tyr682Cys,ENST00000419716,NM_001128206.1;SULF1,splice_region_variant,,ENST00000521946,;SULF1,splice_region_variant,,ENST00000524731,;SULF1,missense_variant,p.Tyr23Cys,ENST00000531512,;							MODERATE	2045/2616	Y682C	SULF1_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000260128		CCDS6204.1			1	
HKDC1	0	LGGM	GRCh37	10	71025517	71025517	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	5	6	.	.	ENST00000354624.5:c.2549T>A	p.Leu850Gln	p.L850Q	ENST00000354624	NM_025130.3	850	cTa/cAa	0	1	1	UPI00003666D2	0	getma.org/pdb.php?prot=HKDC1_HUMAN&from=670&to=909&var=L850Q	ENST00000354624		ENSG00000156510	23302		11	1.915		HGNC	p.L850Q		HKDC1		SNV							ENST00000354624	protein_coding	getma.org/?cm=var&var=hg19,10,71025517,T,A&fts=all		Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12		L/Q		A	medium	2682/3689		getma.org/?cm=msa&ty=f&p=HKDC1_HUMAN&rb=670&re=909&var=L850Q	tolerated(0.1)				YES	HKDC1,missense_variant,p.Leu850Gln,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,intron_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,;							MODERATE	2549/2754	L850Q	HKDC1_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000346643		CCDS7288.1			1	
THSD7B	0	LGGM	GRCh37	2	138163275	138163275	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	109	6	.	.	ENST00000272643.3:c.2593A>C	p.Thr865Pro	p.T865P	ENST00000272643		865	Aca/Cca	0	1	1	UPI00015E0A18	0	NA	ENST00000272643		ENSG00000144229	29348		115	1.78		HGNC	p.T865P		THSD7B		SNV							ENST00000409968	protein_coding	getma.org/?cm=var&var=hg19,2,138163275,A,C&fts=all		hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF7		T/P		C	low	2593/5942		getma.org/?cm=msa&ty=f&p=THS7B_HUMAN&rb=797&re=869&var=T865P	tolerated(0.16)				YES	THSD7B,missense_variant,p.Thr865Pro,ENST00000409968,;THSD7B,missense_variant,p.Thr865Pro,ENST00000272643,;THSD7B,missense_variant,p.Thr834Pro,ENST00000413152,NM_001080427.1;THSD7B,intron_variant,,ENST00000543459,;							MODERATE	2593/4830	T865P	THS7B_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000272643					1	
CUL4A	0	LGGM	GRCh37	13	113883798	113883798	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	3	6	.	.	ENST00000375440.4:c.477C>G	p.Thr159=	p.T159=	ENST00000375440	NM_001008895.2	159	acC/acG	0	1	1	UPI000021C449	0		ENST00000375440		ENSG00000139842	2554		9			HGNC	p.T159T		CUL4A		SNV							ENST00000375440	protein_coding			hmmpanther:PTHR11932:SF68,hmmpanther:PTHR11932,Pfam_domain:PF00888,Gene3D:1.20.1310.10,Superfamily_domains:SSF74788		T		G		561/2364				B4DKT2_HUMAN			YES	CUL4A,synonymous_variant,p.=,ENST00000451881,NM_003589.2,NM_001278514.1;CUL4A,synonymous_variant,p.=,ENST00000326335,;CUL4A,synonymous_variant,p.=,ENST00000375441,NM_001278513.1;CUL4A,synonymous_variant,p.=,ENST00000375440,NM_001008895.2;CUL4A,non_coding_transcript_exon_variant,,ENST00000463426,;CUL4A,non_coding_transcript_exon_variant,,ENST00000488558,;CUL4A,non_coding_transcript_exon_variant,,ENST00000498562,;CUL4A,downstream_gene_variant,,ENST00000494985,;							LOW	477/2280		CUL4A_HUMAN			Transcript			.	ENSP00000364589		CCDS41908.1			1	
KIF26A	0	LGGM	GRCh37	14	104641783	104641783	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	6	7	.	.	ENST00000423312.2:c.2658C>T	p.Pro886=	p.P886=	ENST00000423312	NM_015656.1	886	ccC/ccT	0	1	1	UPI00006C145D	0		ENST00000423312		ENSG00000066735	20226	0.00013	13			HGNC	p.P747P	rs377209406	KIF26A		SNV	T:0						ENST00000315264	protein_coding			hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF407		P	T:0.0001	T		2658/5649	4.36E-05			C9JFF0_HUMAN			YES	KIF26A,synonymous_variant,p.=,ENST00000315264,;KIF26A,synonymous_variant,p.=,ENST00000423312,NM_015656.1;							LOW	2658/5649		KI26A_HUMAN			Transcript			.	ENSP00000388241	2.52E-05	CCDS45171.1			1	
ASH2L	0	LGGM	GRCh37	8	37986383	37986383	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	131	7	.	.	ENST00000343823.6:c.1441G>A	p.Gly481Arg	p.G481R	ENST00000343823	NM_004674.4	481	Gga/Aga	0	1	1	UPI0000038D65	0	getma.org/pdb.php?prot=ASH2L_HUMAN&from=418&to=498&var=G481R	ENST00000343823		ENSG00000129691	744		138	1.95		HGNC	p.G481R		ASH2L		SNV							ENST00000343823	protein_coding	getma.org/?cm=var&var=hg19,8,37986383,G,A&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR10598,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		G/R		A	medium	1750/3090		getma.org/?cm=msa&ty=f&p=ASH2L_HUMAN&rb=418&re=498&var=G481R	tolerated(0.08)	F5H8F7_HUMAN			YES	ASH2L,missense_variant,p.Gly481Arg,ENST00000343823,NM_004674.4;ASH2L,missense_variant,p.Gly387Arg,ENST00000428278,NM_001105214.2;ASH2L,missense_variant,p.Gly387Arg,ENST00000250635,;ASH2L,missense_variant,p.Gly387Arg,ENST00000521652,NM_001261832.1;ASH2L,missense_variant,p.Gly342Arg,ENST00000545394,NM_001282272.1;ASH2L,missense_variant,p.Gly77Arg,ENST00000524247,;RP11-90P5.5,downstream_gene_variant,,ENST00000476186,;ASH2L,3_prime_UTR_variant,,ENST00000517496,;ASH2L,downstream_gene_variant,,ENST00000518186,;							MODERATE	1441/1887	G481R	ASH2L_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000340896		CCDS6101.1			1	
SLC4A5	0	LGGM	GRCh37	2	74466590	74466590	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	16	8	.	.	ENST00000377634.4:c.2191C>T	p.Arg731Cys	p.R731C	ENST00000377634		731	Cgc/Tgc	0	1		UPI000007386D	0	NA	ENST00000346834		ENSG00000188687	18168		24	1.04		HGNC	p.R667C		SLC4A5		SNV							ENST00000359484	protein_coding	getma.org/?cm=var&var=hg19,2,74466590,G,A&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955		R/C		A	low	2589/6104		getma.org/?cm=msa&ty=f&p=S4A5_HUMAN&rb=487&re=1023&var=R731C	deleterious(0.02)	Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,missense_variant,p.Arg731Cys,ENST00000394019,NM_133478.2;SLC4A5,missense_variant,p.Arg731Cys,ENST00000423644,;SLC4A5,missense_variant,p.Arg731Cys,ENST00000346834,;SLC4A5,missense_variant,p.Arg667Cys,ENST00000359484,;SLC4A5,missense_variant,p.Arg731Cys,ENST00000377634,;SLC4A5,missense_variant,p.Arg731Cys,ENST00000357822,NM_021196.3;SLC4A5,missense_variant,p.Arg667Cys,ENST00000358683,;SLC4A5,missense_variant,p.Arg731Cys,ENST00000377632,;SLC4A5,missense_variant,p.Arg731Cys,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;							MODERATE	2191/3123	R731C	S4A5_HUMAN			Transcript		possibly_damaging(0.466)	.	ENSP00000251768					1	
MDN1	0	LGGM	GRCh37	6	90486319	90486319	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	7	8	.	.	ENST00000369393.3:c.1821G>T	p.Lys607Asn	p.K607N	ENST00000369393		607	aaG/aaT	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		15	2.36		HGNC	p.K607N		MDN1		SNV							ENST00000369393	protein_coding	getma.org/?cm=var&var=hg19,6,90486319,C,A&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382		K/N		A	medium	1937/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=459&re=658&var=K607N		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Lys607Asn,ENST00000369393,;MDN1,missense_variant,p.Lys607Asn,ENST00000428876,NM_014611.1;MDN1,missense_variant,p.Lys534Asn,ENST00000439638,;							MODERATE	1821/16791	K607N	MDN1_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000358400		CCDS5024.1			1	
CCKBR	0	LGGM	GRCh37	11	6291487	6291487	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	18	9	.	.	ENST00000334619.2:c.573G>T	p.Val191=	p.V191=	ENST00000334619	NM_176875.3	191	gtG/gtT	0	1	1	UPI0000000C18	0		ENST00000334619		ENSG00000110148	1571		27			HGNC	p.V191V		CCKBR		SNV							ENST00000525462	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00527,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF45,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V		T		766/2121							YES	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,;							LOW	573/1344		GASR_HUMAN			Transcript			.	ENSP00000335544		CCDS7761.1			1	
FAM160B1	0	LGGM	GRCh37	10	116606987	116606987	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	6	10	.	.	ENST00000369248.4:c.1707A>G	p.Val569=	p.V569=	ENST00000369248	NM_020940.3	569	gtA/gtG	0	1	1	UPI0000160B10	0		ENST00000369248		ENSG00000151553	29320		16			HGNC	p.V569V		FAM160B1		SNV							ENST00000369250	protein_coding			hmmpanther:PTHR21705:SF2,hmmpanther:PTHR21705		V		G		2042/5806							YES	FAM160B1,synonymous_variant,p.=,ENST00000369248,NM_020940.3;FAM160B1,synonymous_variant,p.=,ENST00000369250,NM_001135051.1;							LOW	1707/2298		F16B1_HUMAN			Transcript			.	ENSP00000358251		CCDS31290.1			1	
F2	0	LGGM	GRCh37	11	46751078	46751078	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	15	10	.	.	ENST00000311907.5:c.1621C>T	p.Arg541Trp	p.R541W	ENST00000311907	NM_000506.3	541	Cgg/Tgg	0	1	1	UPI0000136ECD	0	getma.org/pdb.php?prot=THRB_HUMAN&from=364&to=613&var=R541W	ENST00000311907		ENSG00000180210	3535		25	1.66		HGNC	p.R502W		F2		SNV			1				ENST00000530231	protein_coding	getma.org/?cm=var&var=hg19,11,46751078,C,T&fts=all		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		R/W		T	low	1677/2023		getma.org/?cm=msa&ty=f&p=THRB_HUMAN&rb=364&re=613&var=R541W	deleterious(0)	Q8TD58_HUMAN,Q86WA1_HUMAN			YES	F2,missense_variant,p.Arg541Trp,ENST00000311907,NM_000506.3;F2,missense_variant,p.Arg502Trp,ENST00000530231,;F2,downstream_gene_variant,,ENST00000442468,;F2,downstream_gene_variant,,ENST00000490274,;							MODERATE	1621/1869	R541W	THRB_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000308541		CCDS31476.1			1	
LRRC4C	0	LGGM	GRCh37	11	40136901	40136901	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	18	10	.	.	ENST00000278198.2:c.942G>C	p.Trp314Cys	p.W314C	ENST00000278198		314	tgG/tgC	0	1	1	UPI000000D9A7	0	getma.org/pdb.php?prot=LRC4C_HUMAN&from=301&to=353&var=W314C	ENST00000278198		ENSG00000148948	29317		28	2.56		HGNC	p.W314C		LRRC4C		SNV							ENST00000528697	protein_coding	getma.org/?cm=var&var=hg19,11,40136901,C,G&fts=all		hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		W/C		G	medium	2906/4054		getma.org/?cm=msa&ty=f&p=LRC4C_HUMAN&rb=301&re=353&var=W314C	deleterious(0.02)	E9PLP4_HUMAN			YES	LRRC4C,missense_variant,p.Trp314Cys,ENST00000278198,;LRRC4C,missense_variant,p.Trp314Cys,ENST00000527150,;LRRC4C,missense_variant,p.Trp314Cys,ENST00000530763,NM_020929.2;LRRC4C,missense_variant,p.Trp314Cys,ENST00000528697,NM_001258419.1;LRRC4C,downstream_gene_variant,,ENST00000533474,;							MODERATE	942/1923	W314C	LRC4C_HUMAN			Transcript		possibly_damaging(0.856)	.	ENSP00000278198		CCDS31464.1			1	
SPATA2	0	LGGM	GRCh37	20	48522267	48522267	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	18	10	.	.	ENST00000422556.1:c.1452C>T	p.Leu484=	p.L484=	ENST00000422556	NM_001135773.1	484	ctC/ctT	0	1		UPI000013557F	0		ENST00000289431		ENSG00000158480	14681		28			HGNC	p.L484L		SPATA2		SNV							ENST00000422556	protein_coding			hmmpanther:PTHR15326,hmmpanther:PTHR15326:SF4		L		A		1683/4022				F5H3K3_HUMAN				SPATA2,synonymous_variant,p.=,ENST00000422556,NM_001135773.1;SPATA2,synonymous_variant,p.=,ENST00000289431,NM_006038.3;SPATA2,synonymous_variant,p.=,ENST00000543716,;							LOW	1452/1563		SPAT2_HUMAN			Transcript			.	ENSP00000289431		CCDS13422.1			1	
RASEF	0	LGGM	GRCh37	9	85677361	85677361	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	11	10	.	.	ENST00000376447.3:c.422T>A	p.Phe141Tyr	p.F141Y	ENST00000376447	NM_152573.3	141	tTc/tAc	0	1	1	UPI0000074189	0	NA	ENST00000376447		ENSG00000165105	26464		21	0.805		HGNC	p.F141Y		RASEF		SNV							ENST00000340717	protein_coding	getma.org/?cm=var&var=hg19,9,85677361,A,T&fts=all		hmmpanther:PTHR22621,hmmpanther:PTHR22621:SF2		F/Y		T	low	683/5576		getma.org/?cm=msa&ty=f&p=RASEF_HUMAN&rb=72&re=181&var=F141Y	tolerated(0.6)				YES	RASEF,missense_variant,p.Phe141Tyr,ENST00000376447,NM_152573.3;RASEF,missense_variant,p.Phe141Tyr,ENST00000340717,;							MODERATE	422/2223	F141Y	RASEF_HUMAN			Transcript		benign(0.001)	.	ENSP00000365630		CCDS6662.1			1	
BNC1	0	LGGM	GRCh37	15	83932666	83932666	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	20	11	.	.	ENST00000345382.2:c.1337C>T	p.Thr446Met	p.T446M	ENST00000345382	NM_001717.3	446	aCg/aTg	0	1	1	UPI0000126796	0	NA	ENST00000345382		ENSG00000169594	1081		31	1.21		HGNC	p.T439M	rs377611889,COSM3988176	BNC1	6.06E-05	SNV	A:0.0002			0.000192		0,1	ENST00000569704	protein_coding	getma.org/?cm=var&var=hg19,15,83932666,G,A&fts=all		hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1		T/M	A:0	A	low	1423/4610		getma.org/?cm=msa&ty=f&p=BNC1_HUMAN&rb=379&re=578&var=T446M	tolerated(0.09)				YES	BNC1,missense_variant,p.Thr446Met,ENST00000345382,NM_001717.3;BNC1,missense_variant,p.Thr439Met,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;					0,1		MODERATE	1337/2985	T446M	BNC1_HUMAN			Transcript		benign(0.003)	.	ENSP00000307041	2.47E-05	CCDS10324.1			1	
CDH7	0	LGGM	GRCh37	18	63476993	63476993	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	21	12	.	.	ENST00000397968.2:c.264C>A	p.Gly88=	p.G88=	ENST00000397968	NM_004361.2	88	ggC/ggA	0	1		UPI000013D269	0		ENST00000323011		ENSG00000081138	1766		33			HGNC	p.G88G		CDH7		SNV							ENST00000536984	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313		G		A		589/2728								CDH7,synonymous_variant,p.=,ENST00000536984,;CDH7,synonymous_variant,p.=,ENST00000397968,NM_004361.2;CDH7,synonymous_variant,p.=,ENST00000323011,NM_033646.1;							LOW	264/2358		CADH7_HUMAN			Transcript			.	ENSP00000319166		CCDS11993.1			1	
RYR1	0	LGGM	GRCh37	19	39027406	39027406	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	10	12	.	.	ENST00000359596.3:c.11607C>T	p.Asn3869=	p.N3869=	ENST00000359596		3869	aaC/aaT	0	1	1	UPI0000D7E62F	0		ENST00000359596		ENSG00000196218	10483		22			HGNC	p.N3864N	COSM1264711	RYR1		SNV			1			1	ENST00000355481	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15		N		T		11607/15117				O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,splice_region_variant,p.=,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,splice_region_variant,p.=,ENST00000359596,;RYR1,intron_variant,,ENST00000360985,;RYR1,intron_variant,,ENST00000596431,;RYR1,downstream_gene_variant,,ENST00000599547,;RYR1,downstream_gene_variant,,ENST00000601514,;AC067969.2,intron_variant,,ENST00000595853,;RYR1,intron_variant,,ENST00000594335,;RYR1,intron_variant,,ENST00000593322,;					1		LOW	11607/15117		RYR1_HUMAN			Transcript			.	ENSP00000352608		CCDS33011.1			1	
VWA5A	0	LGGM	GRCh37	11	123988437	123988437	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	16	13	.	.	ENST00000456829.2:c.101C>A	p.Ser34Tyr	p.S34Y	ENST00000456829	NM_001130142.1	34	tCt/tAt	0	1		UPI0000158B80	0	NA	ENST00000392748		ENSG00000110002	6658		29	1.59		HGNC	p.S34Y	rs753327381	VWA5A		SNV							ENST00000524524	protein_coding	getma.org/?cm=var&var=hg19,11,123988437,C,A&fts=all		Pfam_domain:PF08487,PROSITE_profiles:PS51468,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF100,SMART_domains:SM00609		S/Y		A	low	195/3419		getma.org/?cm=msa&ty=f&p=VMA5A_HUMAN&rb=13&re=132&var=S34Y	deleterious(0.02)					VWA5A,missense_variant,p.Ser34Tyr,ENST00000456829,NM_001130142.1;VWA5A,missense_variant,p.Ser34Tyr,ENST00000392748,NM_014622.4;VWA5A,missense_variant,p.Ser34Tyr,ENST00000360334,;VWA5A,missense_variant,p.Ser50Tyr,ENST00000392744,;VWA5A,missense_variant,p.Ser34Tyr,ENST00000449321,;VWA5A,missense_variant,p.Ser34Tyr,ENST00000361352,NM_198315.2;VWA5A,non_coding_transcript_exon_variant,,ENST00000533623,;							MODERATE	101/2361	S34Y	VMA5A_HUMAN	0.000151		Transcript		probably_damaging(0.95)	.	ENSP00000376504	8.24E-06	CCDS8444.1			1	
VPRBP	0	LGGM	GRCh37	3	51455577	51455577	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	32	13	.	.	ENST00000423656.1:c.2224G>A	p.Asp742Asn	p.D742N	ENST00000423656		742	Gat/Aat	0	1	1	UPI000020AC56	0	NA	ENST00000423656		ENSG00000145041	30911		45	1.245		HGNC	p.D742N		VPRBP		SNV							ENST00000423656	protein_coding	getma.org/?cm=var&var=hg19,3,51455577,C,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR13129,hmmpanther:PTHR13129:SF4		D/N		T	low	2224/4529		getma.org/?cm=msa&ty=f&p=VPRBP_HUMAN&rb=1001&re=1200&var=D1171N	tolerated(0.33)	H0Y4P3_HUMAN			YES	VPRBP,missense_variant,p.Asp742Asn,ENST00000423656,;VPRBP,missense_variant,p.Asp722Asn,ENST00000335891,;							MODERATE	2224/3237	D1171N				Transcript		benign(0.302)	.	ENSP00000393183					1	
TP53	0	LGGM	GRCh37	17	7578218	7578218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	4	13	.	.	ENST00000269305.4:c.631A>G	p.Thr211Ala	p.T211A	ENST00000269305	NM_001126112.2	211	Act/Gct	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=T211A	ENST00000269305		ENSG00000141510	11998		17	2.61		HGNC	p.T211A	TP53_g.12700A>G,COSM44238,COSM1386680,COSM1386681,COSM1386683,COSM1386682	TP53		SNV			1			0,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7578218,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		T/A		C	medium	821/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=T211A	deleterious(0.01)	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			YES	TP53,missense_variant,p.Thr211Ala,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Thr211Ala,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Thr211Ala,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Thr211Ala,ENST00000445888,;TP53,missense_variant,p.Thr211Ala,ENST00000359597,;TP53,missense_variant,p.Thr211Ala,ENST00000413465,;TP53,missense_variant,p.Thr79Ala,ENST00000509690,;TP53,missense_variant,p.Thr118Ala,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,;					0,1,1,1,1,1		MODERATE	631/1182	T211A	P53_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000269305		CCDS11118.1			1	
FHDC1	0	LGGM	GRCh37	4	153884178	153884178	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	3	13	.	.	ENST00000511601.1:c.925G>A	p.Gly309Arg	p.G309R	ENST00000511601		309	Ggg/Agg	0	1		UPI00001D7673	0	getma.org/pdb.php?prot=FHDC1_HUMAN&from=88&to=457&var=G309R	ENST00000260008		ENSG00000137460	29363		16	3.1		HGNC	p.G309R		FHDC1		SNV							ENST00000260008	protein_coding	getma.org/?cm=var&var=hg19,4,153884178,G,A&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		G/R		A	medium	1000/6480		getma.org/?cm=msa&ty=f&p=FHDC1_HUMAN&rb=88&re=457&var=G309R	deleterious(0.04)					FHDC1,missense_variant,p.Gly309Arg,ENST00000511601,;FHDC1,missense_variant,p.Gly309Arg,ENST00000260008,NM_033393.2;							MODERATE	925/3432	G309R	FHDC1_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000260008		CCDS34081.1			1	
GCC2	0	LGGM	GRCh37	2	109088336	109088336	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	9	13	.	.	ENST00000309863.6:c.2551C>T	p.Gln851Ter	p.Q851*	ENST00000309863	NM_181453.3	851	Cag/Tag	0	1	1	UPI000049DF0C	0	NA	ENST00000309863		ENSG00000135968	23218		22	0		HGNC	p.Q851X		GCC2		SNV							ENST00000309863	protein_coding	getma.org/?cm=var&var=hg19,2,109088336,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23		Q/*		T	NA	3265/7537		NA		B8ZZW2_HUMAN,B3KR21_HUMAN			YES	GCC2,stop_gained,p.Gln851Ter,ENST00000309863,NM_181453.3;GCC2,stop_gained,p.Gln814Ter,ENST00000409896,;GCC2,stop_gained,p.Gln23Ter,ENST00000462897,;GCC2,stop_gained,p.Gln13Ter,ENST00000492785,;GCC2,downstream_gene_variant,,ENST00000409821,;GCC2,downstream_gene_variant,,ENST00000485546,;GCC2,downstream_gene_variant,,ENST00000478207,;GCC2,3_prime_UTR_variant,,ENST00000482325,;GCC2,upstream_gene_variant,,ENST00000447558,;							HIGH	2551/5055	Q851*	GCC2_HUMAN			Transcript			.	ENSP00000307939		CCDS33268.1			1	
BPHL	0	LGGM	GRCh37	6	3127539	3127539	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	9	14	.	.	ENST00000380379.5:c.275T>C	p.Val92Ala	p.V92A	ENST00000380379	NM_004332.2	92	gTc/gCc	0	1	1	UPI000000DC96	0	getma.org/pdb.php?prot=BPHL_HUMAN&from=63&to=285&var=V92A	ENST00000380379		ENSG00000137274	1094		23	2.51		HGNC	p.V75A	rs763887560	BPHL		SNV							ENST00000380368	protein_coding	getma.org/?cm=var&var=hg19,6,3127539,T,C&fts=all		hmmpanther:PTHR10992:SF772,hmmpanther:PTHR10992,Pfam_domain:PF12697,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474		V/A		C	medium	324/1928	8.99E-05	getma.org/?cm=msa&ty=f&p=BPHL_HUMAN&rb=63&re=285&var=V92A	deleterious(0)				YES	BPHL,missense_variant,p.Val75Ala,ENST00000380368,;BPHL,missense_variant,p.Val75Ala,ENST00000380375,;BPHL,missense_variant,p.Val92Ala,ENST00000380379,NM_004332.2;BPHL,missense_variant,p.Val75Ala,ENST00000434640,;BPHL,missense_variant,p.Val92Ala,ENST00000433912,;BPHL,3_prime_UTR_variant,,ENST00000430655,;BPHL,3_prime_UTR_variant,,ENST00000424847,;BPHL,non_coding_transcript_exon_variant,,ENST00000490918,;BPHL,non_coding_transcript_exon_variant,,ENST00000488487,;BPHL,downstream_gene_variant,,ENST00000479273,;							MODERATE	275/876	V92A	BPHL_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000369739	4.94E-05	CCDS4483.2			1	
PPP1R36	0	LGGM	GRCh37	14	65053992	65053992	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	25	14	.	.	ENST00000298705.1:c.792G>A	p.Gly264=	p.G264=	ENST00000298705	NM_172365.1	264	ggG/ggA	0	1	1	UPI0000070446	0		ENST00000298705		ENSG00000165807	20097		39			HGNC	p.G264G		PPP1R36		SNV							ENST00000298705	protein_coding			hmmpanther:PTHR21055,Pfam_domain:PF14895		G		A		888/1405				G3V5S6_HUMAN,E9PLB5_HUMAN			YES	PPP1R36,synonymous_variant,p.=,ENST00000298705,NM_172365.1;RP11-973N13.3,intron_variant,,ENST00000556634,;RP11-973N13.3,intron_variant,,ENST00000554454,;PPP1R36,3_prime_UTR_variant,,ENST00000467261,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000554400,;PPP1R36,non_coding_transcript_exon_variant,,ENST00000556023,;							LOW	792/1269		PPR36_HUMAN			Transcript			.	ENSP00000298705		CCDS9767.1			1	
PBX1	0	LGGM	GRCh37	1	164790842	164790842	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	38	16	.	.	ENST00000420696.2:c.1179G>A	p.Met393Ile	p.M393I	ENST00000420696	NM_002585.3	393	atG/atA	0	1	1	UPI00000213E1	0	NA	ENST00000420696		ENSG00000185630	8632		54	1.245		HGNC	p.M393I		PBX1		SNV			1				ENST00000420696	protein_coding	getma.org/?cm=var&var=hg19,1,164790842,G,A&fts=all		hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58		M/I		A	low	1367/6636		getma.org/?cm=msa&ty=f&p=PBX1_HUMAN&rb=294&re=430&var=M393I	tolerated(0.23)	Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN			YES	PBX1,missense_variant,p.Met393Ile,ENST00000420696,NM_002585.3,NM_001204963.1,NM_001204961.1;PBX1,missense_variant,p.Met288Ile,ENST00000560641,;PBX1,missense_variant,p.Met288Ile,ENST00000540246,;PBX1,missense_variant,p.Met393Ile,ENST00000540236,;PBX1,missense_variant,p.Met302Ile,ENST00000559240,;PBX1,3_prime_UTR_variant,,ENST00000367897,;PBX1,downstream_gene_variant,,ENST00000401534,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,non_coding_transcript_exon_variant,,ENST00000465089,;							MODERATE	1179/1293	M393I	PBX1_HUMAN			Transcript		benign(0.001)	.	ENSP00000405890		CCDS1246.1			1	
PRKCB	0	LGGM	GRCh37	16	24135188	24135188	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	21	16	.	.	ENST00000303531.7:c.951G>A	p.Pro317=	p.P317=	ENST00000303531	NM_002738.6	317	ccG/ccA	0	1		UPI000012DF67	0		ENST00000321728		ENSG00000166501	9395		37			HGNC	p.P317P	rs750938251	PRKCB	0.000303	SNV							ENST00000321728	protein_coding			PIRSF_domain:PIRSF000550,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63		P		A		1126/2689				I3L1Z0_HUMAN				PRKCB,synonymous_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,synonymous_variant,p.=,ENST00000321728,NM_212535.2;							LOW	951/2016		KPCB_HUMAN			Transcript			.	ENSP00000318315	4.12E-05	CCDS10618.1			1	
ZFAT	0	LGGM	GRCh37	8	135614961	135614961	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	28	16	.	.	ENST00000377838.3:c.1001C>T	p.Thr334Ile	p.T334I	ENST00000377838	NM_020863.3	334	aCc/aTc	0	1	1	UPI0000210061	0	getma.org/pdb.php?prot=ZFAT_HUMAN&from=313&to=337&var=T334I	ENST00000377838		ENSG00000066827	19899		44	1.735		HGNC	p.T334I		ZFAT		SNV							ENST00000523243	protein_coding	getma.org/?cm=var&var=hg19,8,135614961,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF0,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/I		A	low	1176/4597		getma.org/?cm=msa&ty=f&p=ZFAT_HUMAN&rb=293&re=357&var=T334I	deleterious(0)				YES	ZFAT,missense_variant,p.Thr322Ile,ENST00000520727,NM_001029939.3;ZFAT,missense_variant,p.Thr334Ile,ENST00000377838,NM_020863.3,NM_001174157.1;ZFAT,missense_variant,p.Thr322Ile,ENST00000429442,;ZFAT,missense_variant,p.Thr322Ile,ENST00000520214,NM_001167583.2;ZFAT,missense_variant,p.Thr322Ile,ENST00000520356,NM_001174158.1;ZFAT,missense_variant,p.Thr272Ile,ENST00000523399,;ZFAT-AS1,downstream_gene_variant,,ENST00000505776,;ZFAT,downstream_gene_variant,,ENST00000523040,;ZFAT,missense_variant,p.Thr334Ile,ENST00000523243,;ZFAT,3_prime_UTR_variant,,ENST00000523924,;ZFAT,non_coding_transcript_exon_variant,,ENST00000522974,;ZFAT,upstream_gene_variant,,ENST00000519827,;							MODERATE	1001/3732	T334I	ZFAT_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000367069		CCDS47924.1			1	
CASR	0	LGGM	GRCh37	3	122003325	122003325	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	20	16	.	.	ENST00000498619.1:c.2554C>T	p.Leu852=	p.L852=	ENST00000498619	NM_001178065.1	852	Ctg/Ttg	0	1		UPI000013E30B	0		ENST00000490131		ENSG00000036828	1514		36			HGNC	p.L852L		CASR		SNV			1				ENST00000498619	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF358,Pfam_domain:PF00003		L		T		2896/3783				Q2F3K6_HUMAN,Q2F3K5_HUMAN,Q2F3K4_HUMAN,Q2F3K3_HUMAN				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,;							LOW	2524/3237		CASR_HUMAN			Transcript			.	ENSP00000418685		CCDS3010.1			1	
ZNF587	0	LGGM	GRCh37	19	58371042	58371042	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	18	16	.	.	ENST00000339656.5:c.1262C>G	p.Ser421Cys	p.S421C	ENST00000339656	NM_032828.3	421	tCc/tGc	0	1	1	UPI0000073916	0	getma.org/pdb.php?prot=ZN587_HUMAN&from=420&to=421&var=S421C	ENST00000339656		ENSG00000198466	30955		34	2.655		HGNC	p.S420C		ZNF587		SNV							ENST00000423137	protein_coding	getma.org/?cm=var&var=hg19,19,58371042,C,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/C		G	medium	1444/6882		getma.org/?cm=msa&ty=f&p=ZN587_HUMAN&rb=390&re=451&var=S421C	deleterious(0.05)	M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0QXF5_HUMAN,E7EP41_HUMAN			YES	ZNF587,missense_variant,p.Ser421Cys,ENST00000339656,NM_032828.3,NM_001204817.1;ZNF587,missense_variant,p.Ser378Cys,ENST00000419854,;ZNF587,missense_variant,p.Ser420Cys,ENST00000423137,;ZNF814,intron_variant,,ENST00000597832,;ZNF814,intron_variant,,ENST00000595295,;ZNF814,intron_variant,,ENST00000597342,;ZNF814,intron_variant,,ENST00000596604,;ZNF587B,downstream_gene_variant,,ENST00000316462,;CTD-2583A14.10,downstream_gene_variant,,ENST00000596498,;CTD-2583A14.10,downstream_gene_variant,,ENST00000598031,;CTD-2583A14.10,downstream_gene_variant,,ENST00000603271,;CTD-2583A14.10,downstream_gene_variant,,ENST00000593873,;CTD-2583A14.10,downstream_gene_variant,,ENST00000597134,;ZNF814,upstream_gene_variant,,ENST00000597652,;ZNF587,upstream_gene_variant,,ENST00000596433,;ZNF814,non_coding_transcript_exon_variant,,ENST00000596184,;ZNF814,intron_variant,,ENST00000595894,;CTD-2583A14.10,downstream_gene_variant,,ENST00000604231,;							MODERATE	1262/1728	S421C	ZN587_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000345479		CCDS12964.1			1	
SLC22A6	0	LGGM	GRCh37	11	62744784	62744784	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	9	16	.	.	ENST00000377871.3:c.1437C>T	p.Ala479=	p.A479=	ENST00000377871	NM_153278.2	479	gcC/gcT	0	1	1	UPI00000747EC	0		ENST00000377871		ENSG00000197901	10970		25			HGNC	p.A479A	rs765253931	SLC22A6		SNV				0.000195			ENST00000360421	protein_coding			PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF205,hmmpanther:PTHR24064,Pfam_domain:PF00083,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		A		A		1704/2151							YES	SLC22A6,synonymous_variant,p.=,ENST00000377871,NM_153278.2,NM_004790.4;SLC22A6,synonymous_variant,p.=,ENST00000360421,NM_153277.2,NM_153276.2;SLC22A6,intron_variant,,ENST00000421062,;SLC22A6,intron_variant,,ENST00000458333,;SLC22A6,downstream_gene_variant,,ENST00000537349,;SLC22A6,3_prime_UTR_variant,,ENST00000540654,;							LOW	1437/1692		S22A6_HUMAN			Transcript			.	ENSP00000367102	1.65E-05	CCDS31591.1			1	
SLITRK5	0	LGGM	GRCh37	13	88329473	88329473	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	58	17	.	.	ENST00000325089.6:c.1830G>T	p.Leu610=	p.L610=	ENST00000325089	NM_015567.1	610	ctG/ctT	0	1	1	UPI000015F6F7	0		ENST00000325089		ENSG00000165300	20295		75			HGNC	p.L369L		SLITRK5		SNV							ENST00000400028	protein_coding			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,SMART_domains:SM00082		L		T		2049/4447							YES	SLITRK5,synonymous_variant,p.=,ENST00000325089,NM_015567.1;SLITRK5,synonymous_variant,p.=,ENST00000400028,;							LOW	1830/2877		SLIK5_HUMAN			Transcript			.	ENSP00000366283		CCDS9465.1			1	
BLTP1	0	LGGM	GRCh37	4	123249383	123249383	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	6	17	.	.	ENST00000264501.4:c.11120C>G	p.Pro3707Arg	p.P3707R	ENST00000264501		3707	cCa/cGa	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		23	1.1		HGNC	p.P3707R	rs202154220	KIAA1109	0.000303	SNV	T:0.0011						ENST00000264501	protein_coding	getma.org/?cm=var&var=hg19,4,123249383,C,G&fts=all	G:0	hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		P/R	T:0	G	low	11493/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=3689&re=3888&var=P3707R		B3KN93_HUMAN	G:0	G:0	YES	KIAA1109,missense_variant,p.Pro3707Arg,ENST00000264501,;KIAA1109,missense_variant,p.Pro3707Arg,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Pro411Arg,ENST00000438707,;KIAA1109,missense_variant,p.Pro118Arg,ENST00000306802,;KIAA1109,downstream_gene_variant,,ENST00000455637,;KIAA1109,downstream_gene_variant,,ENST00000419325,;KIAA1109,non_coding_transcript_exon_variant,,ENST00000480651,;		G:0.0002					MODERATE	11120/15018	P3707R	K1109_HUMAN		G:0	Transcript		benign(0.19)	.	ENSP00000264501	4.14E-05	CCDS43267.1		G:0.001	1	
RNF38	0	LGGM	GRCh37	9	36356432	36356432	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	25	18	.	.	ENST00000259605.6:c.777A>T	p.Pro259=	p.P259=	ENST00000259605	NM_022781.4	259	ccA/ccT	0	1	1	UPI00001D69FF	0		ENST00000259605		ENSG00000137075	18052		43			HGNC	p.P176P		RNF38		SNV							ENST00000357058	protein_coding			hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF81		P		A		885/5012				Q9H748_HUMAN			YES	RNF38,synonymous_variant,p.=,ENST00000357058,NM_194328.2;RNF38,synonymous_variant,p.=,ENST00000350199,NM_194332.2;RNF38,synonymous_variant,p.=,ENST00000259605,NM_022781.4;RNF38,synonymous_variant,p.=,ENST00000377885,NM_194330.2;RNF38,synonymous_variant,p.=,ENST00000353739,NM_194329.2;RNF38,synonymous_variant,p.=,ENST00000377877,;RNF38,non_coding_transcript_exon_variant,,ENST00000491349,;							LOW	777/1548		RNF38_HUMAN			Transcript			.	ENSP00000259605		CCDS6603.1			1	
CHSY3	0	LGGM	GRCh37	5	129520409	129520409	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	17	19	.	.	ENST00000305031.4:c.1574G>C	p.Gly525Ala	p.G525A	ENST00000305031	NM_175856.4	525	gGc/gCc	0	1	1	UPI0000251E08	0	NA	ENST00000305031		ENSG00000198108	24293		36	2.92		HGNC	p.G525A		CHSY3		SNV							ENST00000305031	protein_coding	getma.org/?cm=var&var=hg19,5,129520409,G,C&fts=all		Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18		G/A		C	medium	1932/3850		getma.org/?cm=msa&ty=f&p=CHSS3_HUMAN&rb=328&re=864&var=G525A	deleterious(0.02)	Q1JTV1_HUMAN			YES	CHSY3,missense_variant,p.Gly525Ala,ENST00000305031,NM_175856.4;CHSY3,downstream_gene_variant,,ENST00000507545,;							MODERATE	1574/2649	G525A	CHSS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302629		CCDS34223.1			1	
ACSL5	0	LGGM	GRCh37	10	114176700	114176700	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	35	20	.	.	ENST00000356116.1:c.1306T>C	p.Ser436Pro	p.S436P	ENST00000356116	NM_016234.3	436	Tcc/Ccc	0	1		UPI000012E295	0	getma.org/pdb.php?prot=ACSL5_HUMAN&from=107&to=573&var=S380P	ENST00000354273		ENSG00000197142	16526		55	2.3		HGNC	p.S380P		ACSL5		SNV							ENST00000433418	protein_coding	getma.org/?cm=var&var=hg19,10,114176700,T,C&fts=all		Pfam_domain:PF00501,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF143		S/P		C	medium	1417/3353		getma.org/?cm=msa&ty=f&p=ACSL5_HUMAN&rb=107&re=573&var=S380P	deleterious(0.05)					ACSL5,missense_variant,p.Ser380Pro,ENST00000393081,NM_203380.1;ACSL5,missense_variant,p.Ser436Pro,ENST00000356116,NM_016234.3;ACSL5,missense_variant,p.Ser380Pro,ENST00000354273,;ACSL5,missense_variant,p.Ser380Pro,ENST00000354655,NM_203379.1;ACSL5,missense_variant,p.Ser380Pro,ENST00000433418,;ACSL5,missense_variant,p.Ser162Pro,ENST00000369410,;RP11-324O2.6,intron_variant,,ENST00000424422,;ACSL5,non_coding_transcript_exon_variant,,ENST00000495539,;ACSL5,non_coding_transcript_exon_variant,,ENST00000467340,;							MODERATE	1138/2052	S380P	ACSL5_HUMAN			Transcript		benign(0.094)	.	ENSP00000346223		CCDS7573.1			1	
NAV3	0	LGGM	GRCh37	12	78513153	78513153	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	56	21	.	.	ENST00000536525.2:c.3177G>A	p.Ser1059=	p.S1059=	ENST00000536525	NM_014903.4	1059	tcG/tcA	0	1		UPI0000E59849	0		ENST00000397909		ENSG00000067798	15998		77			HGNC	p.S1059S	rs761458394	NAV3	6.06E-05	SNV							ENST00000266692	protein_coding			hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		S		A		3350/9821				F8VZV4_HUMAN				NAV3,synonymous_variant,p.=,ENST00000397909,NM_001024383.1;NAV3,synonymous_variant,p.=,ENST00000228327,;NAV3,synonymous_variant,p.=,ENST00000266692,;NAV3,synonymous_variant,p.=,ENST00000536525,NM_014903.4;NAV3,synonymous_variant,p.=,ENST00000552895,;NAV3,upstream_gene_variant,,ENST00000550788,;							LOW	3177/7158		NAV3_HUMAN			Transcript			.	ENSP00000381007	8.27E-06	CCDS66432.1			1	
GINS3	0	LGGM	GRCh37	16	58437133	58437133	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	27	22	.	.	ENST00000426538.2:c.435G>T	p.Val145=	p.V145=	ENST00000426538	NM_001126129.1	145	gtG/gtT	0	1		UPI000006D678	0		ENST00000318129		ENSG00000181938	25851		49			HGNC	p.V145V		GINS3		SNV							ENST00000426538	protein_coding			hmmpanther:PTHR22768,Pfam_domain:PF05916,Superfamily_domains:SSF158573		V		T		526/2274								GINS3,synonymous_variant,p.=,ENST00000318129,NM_022770.3;GINS3,synonymous_variant,p.=,ENST00000426538,NM_001126129.1;GINS3,intron_variant,,ENST00000328514,NM_001126130.1;GINS3,non_coding_transcript_exon_variant,,ENST00000567143,;							LOW	318/651		PSF3_HUMAN			Transcript			.	ENSP00000318196		CCDS10796.1			1	
GINS3	0	LGGM	GRCh37	16	58437134	58437134	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	25	23	.	.	ENST00000426538.2:c.436G>T	p.Val146Leu	p.V146L	ENST00000426538	NM_001126129.1	146	Gtg/Ttg	0	1		UPI000006D678	0	getma.org/pdb.php?prot=PSF3_HUMAN&from=66&to=173&var=V107L	ENST00000318129		ENSG00000181938	25851		48	2.82		HGNC	p.V146L		GINS3		SNV							ENST00000426538	protein_coding	getma.org/?cm=var&var=hg19,16,58437134,G,T&fts=all		hmmpanther:PTHR22768,Pfam_domain:PF05916,Superfamily_domains:SSF158573		V/L		T	medium	527/2274		getma.org/?cm=msa&ty=f&p=PSF3_HUMAN&rb=66&re=173&var=V107L	tolerated(0.05)					GINS3,missense_variant,p.Val107Leu,ENST00000318129,NM_022770.3;GINS3,missense_variant,p.Val146Leu,ENST00000426538,NM_001126129.1;GINS3,intron_variant,,ENST00000328514,NM_001126130.1;GINS3,non_coding_transcript_exon_variant,,ENST00000567143,;							MODERATE	319/651	V107L	PSF3_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000318196		CCDS10796.1			1	
CD55	0	LGGM	GRCh37	1	207495914	207495927	+	splice_donor_variant,intron_variant	Splice_Site	DEL	TAAGTTCTTCATCT	TAAGTTCTTCATCT	-	novel	by Submitter	H110134	H110134N.bam	TAAGTTCTTCATCT	TAAGTTCTTCATCT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	15	24	.	.	ENST00000314754.8:c.286+3_286+16del		p.X96_splice	ENST00000314754	NM_001114752.1			0	1		UPI0000032E67	0		ENST00000367064		ENSG00000196352	2665		39			HGNC	-		CD55		deletion			1				-	protein_coding							-		-/2760				Q76N74_HUMAN				CD55,splice_donor_variant,,ENST00000367064,NM_000574.3;CD55,splice_donor_variant,,ENST00000391921,;CD55,splice_donor_variant,,ENST00000314754,NM_001114752.1;CD55,splice_donor_variant,,ENST00000367063,;CD55,splice_donor_variant,,ENST00000367065,;CD55,splice_donor_variant,,ENST00000391920,;CD55,splice_donor_variant,,ENST00000367062,;CD55,splice_donor_variant,,ENST00000367067,;CD55,splice_donor_variant,,ENST00000343420,;CD55,upstream_gene_variant,,ENST00000465534,;CD55,splice_donor_variant,,ENST00000482390,;CD55,splice_donor_variant,,ENST00000488171,;CD55,upstream_gene_variant,,ENST00000476590,;							HIGH	286/1146		DAF_HUMAN			Transcript	1		.	ENSP00000356031		CCDS31006.1			1	
TXK	0	LGGM	GRCh37	4	48115319	48115319	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	36	24	.	.	ENST00000264316.4:c.79A>G	p.Arg27Gly	p.R27G	ENST00000264316	NM_003328.2	27	Aga/Gga	0	1	1	UPI000013D4F9	0	NA	ENST00000264316		ENSG00000074966	12434		60	0.895		HGNC	p.R27G		TXK		SNV							ENST00000264316	protein_coding	getma.org/?cm=var&var=hg19,4,48115319,T,C&fts=all		Gene3D:3.30.200.20,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF159		R/G		C	low	165/2914		getma.org/?cm=msa&ty=f&p=TXK_HUMAN&rb=1&re=87&var=R27G	tolerated(0.29)	Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN			YES	TXK,missense_variant,p.Arg27Gly,ENST00000264316,NM_003328.2;TXK,missense_variant,p.Arg27Gly,ENST00000506073,;RNU6-868P,upstream_gene_variant,,ENST00000517241,;TXK,non_coding_transcript_exon_variant,,ENST00000510457,;							MODERATE	79/1584	R27G	TXK_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000264316		CCDS3480.1			1	
HSD17B4	0	LGGM	GRCh37	5	118872181	118872181	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	30	25	.	.	ENST00000504811.1:c.2132C>T	p.Thr711Ile	p.T711I	ENST00000504811	NM_001199291.1	711	aCa/aTa	0	1		UPI0000000C4F	0	getma.org/pdb.php?prot=DHB4_HUMAN&from=628&to=731&var=T686I	ENST00000256216		ENSG00000133835	5213		55	1.495		HGNC	p.T549I		HSD17B4		SNV			1				ENST00000513628	protein_coding	getma.org/?cm=var&var=hg19,5,118872181,C,T&fts=all		Gene3D:3.30.1050.10,Pfam_domain:PF02036,Superfamily_domains:SSF55718		T/I		T	low	2190/2683		getma.org/?cm=msa&ty=f&p=DHB4_HUMAN&rb=628&re=731&var=T686I	tolerated(0.25)	Q9UBA4_HUMAN,E7ET17_HUMAN				HSD17B4,missense_variant,p.Thr711Ile,ENST00000504811,NM_001199291.1;HSD17B4,missense_variant,p.Thr686Ile,ENST00000256216,NM_000414.3;HSD17B4,missense_variant,p.Thr662Ile,ENST00000510025,;HSD17B4,missense_variant,p.Thr546Ile,ENST00000414835,;HSD17B4,missense_variant,p.Thr668Ile,ENST00000515320,NM_001199292.1;HSD17B4,missense_variant,p.Thr424Ile,ENST00000509514,;HSD17B4,missense_variant,p.Thr549Ile,ENST00000513628,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000522415,;HSD17B4,intron_variant,,ENST00000509951,;HSD17B4,3_prime_UTR_variant,,ENST00000442060,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000515235,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000503310,;HSD17B4,non_coding_transcript_exon_variant,,ENST00000509606,;							MODERATE	2057/2211	T686I	DHB4_HUMAN			Transcript		benign(0.052)	.	ENSP00000256216		CCDS4126.1			1	
DHX30	0	LGGM	GRCh37	3	47883212	47883212	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110134	H110134N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	32	25	.	.	ENST00000445061.1:c.774A>G	p.Ser258=	p.S258=	ENST00000445061	NM_138615.2	258	tcA/tcG	0	1	1	UPI000007112B	0		ENST00000445061		ENSG00000132153	16716		57			HGNC	p.S230S	rs774190263	DHX30		SNV							ENST00000348968	protein_coding			hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934		S		G		1181/4065	3.00E-05			H7BXY3_HUMAN			YES	DHX30,synonymous_variant,p.=,ENST00000446256,NM_014966.3;DHX30,synonymous_variant,p.=,ENST00000445061,NM_138615.2;DHX30,synonymous_variant,p.=,ENST00000348968,;DHX30,synonymous_variant,p.=,ENST00000457607,;DHX30,upstream_gene_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,3_prime_UTR_variant,,ENST00000441384,;							LOW	774/3585		DHX30_HUMAN			Transcript			.	ENSP00000405620	1.65E-05	CCDS2759.1			1	
KRTAP5-5	0	LGGM	GRCh37	11	1651614	1651643	+	inframe_deletion	In_Frame_Del	DEL	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC	-	novel	by Submitter	H110134	H110134N.bam	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	90	27	.	.	ENST00000399676.2:c.575_604del	p.Tyr192_Pro201del	p.Y192_P201del	ENST00000399676	NM_001001480.2	182	TACTGCTGCCAGTCCAGCTGCTGTAAGCCC/-	0	1	1	UPI0000E592E5	0		ENST00000399676		ENSG00000185940	23601		117			HGNC	p.182_191del	rs576867883,COSM253911	KRTAP5-5		deletion	-:0.3485					0,1	ENST00000399676	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF41,Pfam_domain:PF13885		YCCQSSCCKP/-	-:0.3816	-		582-611/1128							YES	KRTAP5-5,inframe_deletion,p.Tyr192_Pro201del,ENST00000399676,NM_001001480.2;					0,1		MODERATE	544-573/714		KRA55_HUMAN			Transcript	31		.	ENSP00000382584		CCDS41592.1			1	
FGFR1	0	LGGM	GRCh37	8	38282184	38282184	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	18	28	.	.	ENST00000425967.3:c.872G>A	p.Gly291Glu	p.G291E	ENST00000425967	NM_001174067.1	291	gGg/gAg	0	1		UPI00000534B8	0	getma.org/pdb.php?prot=FGFR1_HUMAN&from=259&to=358&var=G260E	ENST00000447712		ENSG00000077782	3688		46	1.715		HGNC	p.G169E		FGFR1		SNV			1				ENST00000326324	protein_coding	getma.org/?cm=var&var=hg19,8,38282184,C,T&fts=all		PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,Superfamily_domains:SSF48726		G/E		T	low	1721/5900		getma.org/?cm=msa&ty=f&p=FGFR1_HUMAN&rb=259&re=358&var=G260E	deleterious(0.02)	E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,missense_variant,p.Gly261Glu,ENST00000341462,;FGFR1,missense_variant,p.Gly260Glu,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,missense_variant,p.Gly258Glu,ENST00000397091,;FGFR1,missense_variant,p.Gly260Glu,ENST00000532791,;FGFR1,missense_variant,p.Gly291Glu,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Gly252Glu,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Gly171Glu,ENST00000356207,NM_023105.2;FGFR1,missense_variant,p.Gly169Glu,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Gly258Glu,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,missense_variant,p.Gly169Glu,ENST00000397103,;FGFR1,missense_variant,p.Gly258Glu,ENST00000397108,;FGFR1,missense_variant,p.Gly260Glu,ENST00000525001,;FGFR1,missense_variant,p.Gly100Glu,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,,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,downstream_gene_variant,,ENST00000532386,;FGFR1,upstream_gene_variant,,ENST00000464163,;							MODERATE	779/2469	G260E	FGFR1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000400162		CCDS6107.2			1	
PKHD1L1	0	LGGM	GRCh37	8	110464474	110464474	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	70	28	.	.	ENST00000378402.5:c.6472T>C	p.Cys2158Arg	p.C2158R	ENST00000378402	NM_177531.4	2158	Tgt/Cgt	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		98	-1.385		HGNC	p.C2158R		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110464474,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,SMART_domains:SM00429,Superfamily_domains:SSF81296		C/R		C	neutral	6576/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=2091&re=2176&var=C2158R	tolerated(1)				YES	PKHD1L1,missense_variant,p.Cys2158Arg,ENST00000378402,NM_177531.4;							MODERATE	6472/12732	C2158R	PKHL1_HUMAN			Transcript		benign(0)	.	ENSP00000367655		CCDS47911.1			1	
TMEM110	0	LGGM	GRCh37	3	52886661	52886661	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110134	H110134N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	33	34	.	.	ENST00000355083.5:c.263A>G	p.Asn88Ser	p.N88S	ENST00000355083	NM_198563.2	88	aAt/aGt	0	1	1	UPI000000DB9A	0	NA	ENST00000355083		ENSG00000213533	30526		67	2.745		HGNC	p.N88S		TMEM110		SNV							ENST00000504329	protein_coding	getma.org/?cm=var&var=hg19,3,52886661,T,C&fts=all		hmmpanther:PTHR31735,hmmpanther:PTHR31735:SF2,Transmembrane_helices:TMhelix		N/S		C	medium	409/4769		getma.org/?cm=msa&ty=f&p=TM110_HUMAN&rb=1&re=99&var=N88S	deleterious(0)				YES	TMEM110,missense_variant,p.Asn88Ser,ENST00000355083,NM_198563.2;TMEM110-MUSTN1,missense_variant,p.Asn88Ser,ENST00000504329,NM_001198974.2;TMEM110,missense_variant,p.Asn19Ser,ENST00000485356,;TMEM110,3_prime_UTR_variant,,ENST00000467979,;							MODERATE	263/885	N88S	TM110_HUMAN			Transcript		benign(0.123)	.	ENSP00000347195		CCDS2866.1			1	
FNDC7	0	LGGM	GRCh37	1	109270571	109270571	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	35	37	.	.	ENST00000370017.3:c.1253C>T	p.Thr418Ile	p.T418I	ENST00000370017	NM_001144937.1	418	aCt/aTt	0	1	1	UPI000187497A	0	NA	ENST00000370017		ENSG00000143107	26668		72	0		HGNC	p.T419I		FNDC7		SNV							ENST00000271311	protein_coding	getma.org/?cm=var&var=hg19,1,109270571,C,T&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Gene3D:2.60.40.10,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF177,PROSITE_profiles:PS50853		T/I		T	neutral	1530/3332		getma.org/?cm=msa&ty=f&p=FNDC7_HUMAN&rb=375&re=455&var=T418I	deleterious(0)				YES	FNDC7,missense_variant,p.Thr418Ile,ENST00000370017,NM_001144937.1;FNDC7,missense_variant,p.Thr419Ile,ENST00000271311,;FNDC7,missense_variant,p.Thr194Ile,ENST00000445274,;							MODERATE	1253/2202	T418I	FNDC7_HUMAN			Transcript		benign(0.027)	.	ENSP00000359034		CCDS44185.1			1	
SYTL2	0	LGGM	GRCh37	11	85438488	85438488	+	upstream_gene_variant	5'Flank	SNP	C	C	G	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	50	39	.	.				ENST00000354566	NM_206927.2			0	1		UPI0001AADE5A	0		ENST00000528231		ENSG00000137501	15585		89			HGNC	p.G195A		SYTL2		SNV							ENST00000359152	protein_coding							G		-/3536				Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,missense_variant,p.Gly195Ala,ENST00000359152,NM_206928.2;SYTL2,5_prime_UTR_variant,,ENST00000525423,;SYTL2,intron_variant,,ENST00000316356,;SYTL2,intron_variant,,ENST00000389960,NM_032943.3;SYTL2,intron_variant,,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,intron_variant,,ENST00000527523,;SYTL2,intron_variant,,ENST00000524452,;SYTL2,upstream_gene_variant,,ENST00000354566,NM_206927.2;SYTL2,upstream_gene_variant,,ENST00000530351,;SYTL2,upstream_gene_variant,,ENST00000389959,;							MODIFIER	-/2805		SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
OR6K6	0	LGGM	GRCh37	1	158724896	158724896	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	84	39	.	.	ENST00000368144.2:c.291G>A	p.Leu97=	p.L97=	ENST00000368144	NM_001005184.1	97	ctG/ctA	0	1	1	UPI000015F229	0		ENST00000368144		ENSG00000180433	15033		123			HGNC	p.L97L		OR6K6		SNV							ENST00000368144	protein_coding			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF132,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		A		387/1172							YES	OR6K6,synonymous_variant,p.=,ENST00000368144,NM_001005184.1;							LOW	291/1032		OR6K6_HUMAN			Transcript			.	ENSP00000357126		CCDS30904.1			1	
TAS2R31	0	LGGM	GRCh37	12	11183371	11183371	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	53	40	.	.	ENST00000390675.2:c.564C>A	p.Phe188Leu	p.F188L	ENST00000390675	NM_176885.2	188	ttC/ttA	0	1	1	UPI000000D820	0	NA	ENST00000390675		ENSG00000256436	19113		93	1.645		HGNC	p.F188L		TAS2R31		SNV							ENST00000390675	protein_coding	getma.org/?cm=var&var=hg19,12,11183371,G,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11394:SF54,hmmpanther:PTHR11394,Gene3D:1.20.1070.10,Pfam_domain:PF05296,Superfamily_domains:SSF81321		F/L		T	low	636/1021		getma.org/?cm=msa&ty=f&p=T2R31_HUMAN&rb=1&re=298&var=F188L	tolerated(0.08)				YES	TAS2R31,missense_variant,p.Phe188Leu,ENST00000390675,NM_176885.2;AC018630.1,upstream_gene_variant,,ENST00000601123,;TAS2R14,intron_variant,,ENST00000381852,;PRR4,intron_variant,,ENST00000536668,;PRR4,intron_variant,,ENST00000535024,;PRR4,intron_variant,,ENST00000539853,;PRR4,intron_variant,,ENST00000536086,;PRR4,intron_variant,,ENST00000534923,;PRR4,intron_variant,,ENST00000541977,;PRR4,intron_variant,,ENST00000541456,;							MODERATE	564/930	F188L	T2R31_HUMAN			Transcript		possibly_damaging(0.558)	.	ENSP00000375093		CCDS53747.1			1	
PGPEP1L	0	LGGM	GRCh37	15	99512714	99512714	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	46	42	.	.	ENST00000378919.6:c.311C>T	p.Ala104Val	p.A104V	ENST00000378919	NM_001102612.2	104	gCa/gTa	0	1	1	UPI00006C1572	0	getma.org/pdb.php?prot=PGPIL_HUMAN&from=5&to=155&var=A104V	ENST00000378919		ENSG00000183571	27080		88	2.215		HGNC	p.A50V		PGPEP1L		SNV							ENST00000535714	protein_coding	getma.org/?cm=var&var=hg19,15,99512714,G,A&fts=all		hmmpanther:PTHR23402:SF14,hmmpanther:PTHR23402,Pfam_domain:PF01470,Gene3D:3.40.630.20,Superfamily_domains:SSF53182		A/V		A	medium	517/995		getma.org/?cm=msa&ty=f&p=PGPIL_HUMAN&rb=5&re=155&var=A104V	deleterious(0.04)	H0YF86_HUMAN			YES	PGPEP1L,missense_variant,p.Ala50Val,ENST00000535714,NM_001167902.1;PGPEP1L,missense_variant,p.Ala104Val,ENST00000378919,NM_001102612.2;IGF1R,downstream_gene_variant,,ENST00000268035,NM_000875.3;IGF1R,downstream_gene_variant,,ENST00000558762,;RP11-654A16.3,intron_variant,,ENST00000559468,;							MODERATE	311/591	A104V	PGPIL_HUMAN			Transcript		benign(0.271)	.	ENSP00000368199		CCDS53977.1			1	
CANT1	0	LGGM	GRCh37	17	76993279	76993279	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	142	45	.	.	ENST00000302345.2:c.426G>A	p.Lys142=	p.K142=	ENST00000302345	NM_001159773.1	142	aaG/aaA	0	1	1	UPI00000734F8	0		ENST00000302345		ENSG00000171302	19721		187			HGNC	p.G89S		CANT1		SNV			1				ENST00000588611	protein_coding			Superfamily_domains:0049295,Pfam_domain:PF06079,hmmpanther:PTHR13023,hmmpanther:PTHR13023:SF3		K		T		921/3534				K7EQT4_HUMAN,K7EMT2_HUMAN,K7EKT2_HUMAN,K7EIP9_HUMAN			YES	CANT1,missense_variant,p.Gly89Ser,ENST00000588611,;CANT1,synonymous_variant,p.=,ENST00000302345,NM_001159773.1,NM_138793.3;CANT1,synonymous_variant,p.=,ENST00000392446,;CANT1,synonymous_variant,p.=,ENST00000591773,NM_001159772.1;CANT1,downstream_gene_variant,,ENST00000588075,;CANT1,downstream_gene_variant,,ENST00000586916,;CANT1,downstream_gene_variant,,ENST00000590370,;CANT1,downstream_gene_variant,,ENST00000591625,;CANT1,downstream_gene_variant,,ENST00000592033,;CANT1,downstream_gene_variant,,ENST00000591811,;CANT1,downstream_gene_variant,,ENST00000591732,;CANT1,downstream_gene_variant,,ENST00000592887,;CANT1,downstream_gene_variant,,ENST00000587242,;CANT1,synonymous_variant,p.=,ENST00000592228,;CANT1,upstream_gene_variant,,ENST00000588096,;							LOW	426/1206		CANT1_HUMAN			Transcript			.	ENSP00000307674		CCDS11760.1			1	
IGHV1OR21-1	0	LGGM	GRCh37	21	10863019	10863019	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110134	H110134N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	274	61	.	.	ENST00000559480.1:c.315G>A	p.Leu105=	p.L105=	ENST00000559480		105	ctG/ctA	0	1	1	UPI000041AB26	0		ENST00000559480		ENSG00000169861	38040		335			HGNC	p.L105L	rs781584790	IGHV1OR21-1	6.06E-05	SNV							ENST00000302092	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266:SF73,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		L		A		315/363							YES	IGHV1OR21-1,synonymous_variant,p.=,ENST00000559480,;IGHV1OR21-1,synonymous_variant,p.=,ENST00000302092,;							LOW	315/363		IV1U1_HUMAN			Transcript			.	ENSP00000453358	8.24E-06				1	
GLI2	0	LGGM	GRCh37	2	121742052	121742052	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110134	H110134N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110134N.bam, H110134T.bam	Illumina HiSeq	124	108	.	.	ENST00000452319.1:c.1689C>T	p.Pro563=	p.P563=	ENST00000452319		563	ccC/ccT	0	1		UPI000053FCB4	0		ENST00000361492		ENSG00000074047	4318		232			HGNC	p.P563P		GLI2		SNV			1				ENST00000361492	protein_coding			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR19818:SF73,hmmpanther:PTHR19818,PROSITE_profiles:PS50157		P		T		1719/6768				Q6RSW2_HUMAN,Q59FV5_HUMAN,Q1PSW9_HUMAN				GLI2,synonymous_variant,p.=,ENST00000452319,;GLI2,synonymous_variant,p.=,ENST00000361492,NM_005270.4;GLI2,synonymous_variant,p.=,ENST00000314490,;GLI2,non_coding_transcript_exon_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,;							LOW	1689/4761		GLI2_HUMAN			Transcript			.	ENSP00000354586		CCDS33283.1			1	
CARKD	0	LGGM	GRCh37	13	111277535	111277535	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	15	2	.	.	ENST00000309957.2:c.298-2A>G		p.X100_splice	ENST00000309957	NM_001242881.1			0	1	1	UPI000013DD48	0		ENST00000309957		ENSG00000213995	25576		17			HGNC	-		CARKD		SNV							ENST00000309957	protein_coding							G		-/2659							YES	CARKD,splice_acceptor_variant,,ENST00000309957,NM_001242881.1,NM_018210.3;CARKD,intron_variant,,ENST00000458711,;CARKD,intron_variant,,ENST00000397191,;CARKD,intron_variant,,ENST00000424185,NM_001242883.1;CARKD,intron_variant,,ENST00000470164,;							HIGH	298/1173		NNRD_HUMAN			Transcript			.	ENSP00000311984		CCDS9513.1			1	
UBXN11	0	LGGM	GRCh37	1	26623430	26623430	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	6	2	.	.	ENST00000374222.1:c.412C>A	p.Arg138=	p.R138=	ENST00000374222		138	Cgg/Agg	0	1		UPI00004700E1	0		ENST00000374221		ENSG00000158062	30600		8			HGNC	p.R105R		UBXN11		SNV							ENST00000452980	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23333,hmmpanther:PTHR23333:SF4		R		T		626/1792								UBXN11,synonymous_variant,p.=,ENST00000374222,;UBXN11,synonymous_variant,p.=,ENST00000374217,NM_145345.2;UBXN11,synonymous_variant,p.=,ENST00000374221,NM_183008.2;UBXN11,synonymous_variant,p.=,ENST00000357089,;UBXN11,synonymous_variant,p.=,ENST00000436301,;UBXN11,synonymous_variant,p.=,ENST00000374215,;UBXN11,synonymous_variant,p.=,ENST00000423664,;UBXN11,synonymous_variant,p.=,ENST00000452980,;UBXN11,synonymous_variant,p.=,ENST00000442942,;UBXN11,synonymous_variant,p.=,ENST00000450041,;UBXN11,5_prime_UTR_variant,,ENST00000374223,;UBXN11,intron_variant,,ENST00000314675,NM_001077262.1;UBXN11,intron_variant,,ENST00000535108,;UBXN11,downstream_gene_variant,,ENST00000421827,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,intron_variant,,ENST00000494942,;							LOW	412/1563		UBX11_HUMAN			Transcript			.	ENSP00000363338		CCDS41288.1			1	
KIAA1549	0	LGGM	GRCh37	7	138554294	138554294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	10	2	.	.	ENST00000422774.1:c.4765C>A	p.Pro1589Thr	p.P1589T	ENST00000422774		1589	Ccc/Acc	0	1	1	UPI0001837EBD	0	NA	ENST00000422774		ENSG00000122778	22219		12	2.045		HGNC	p.P1539T		KIAA1549		SNV			1				ENST00000242365	protein_coding	getma.org/?cm=var&var=hg19,7,138554294,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4,Pfam_domain:PF12877		P/T		T	medium	4814/6283		getma.org/?cm=msa&ty=f&p=K1549_HUMAN&rb=1035&re=1702&var=P1589T	deleterious(0)				YES	KIAA1549,missense_variant,p.Pro1589Thr,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,missense_variant,p.Pro1539Thr,ENST00000242365,;KIAA1549,missense_variant,p.Pro1589Thr,ENST00000422774,;							MODERATE	4765/5853	P1589T	K1549_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000416040		CCDS56513.1			1	
NPTX1	0	LGGM	GRCh37	17	78445680	78445680	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	10	2	.	.	ENST00000306773.4:c.929G>C	p.Gly310Ala	p.G310A	ENST00000306773	NM_002522.3	310	gGc/gCc	0	1	1	UPI000013EB88	0	getma.org/pdb.php?prot=NPTX1_HUMAN&from=227&to=422&var=G310A	ENST00000306773		ENSG00000171246	7952		12	2.24		HGNC	p.G310A		NPTX1		SNV							ENST00000306773	protein_coding	getma.org/?cm=var&var=hg19,17,78445680,C,G&fts=all		Gene3D:2.60.120.200,Pfam_domain:PF00354,hmmpanther:PTHR19277,hmmpanther:PTHR19277:SF24,SMART_domains:SM00159,Superfamily_domains:SSF49899		G/A		G	medium	1087/5122		getma.org/?cm=msa&ty=f&p=NPTX1_HUMAN&rb=227&re=422&var=G310A	tolerated(0.06)				YES	NPTX1,missense_variant,p.Gly310Ala,ENST00000306773,NM_002522.3;NPTX1,downstream_gene_variant,,ENST00000575212,;NPTX1,non_coding_transcript_exon_variant,,ENST00000535681,;NPTX1,downstream_gene_variant,,ENST00000571100,;							MODERATE	929/1299	G310A	NPTX1_HUMAN			Transcript		possibly_damaging(0.681)	.	ENSP00000307549		CCDS32762.1			1	
CEP170B	0	LGGM	GRCh37	14	105354168	105354168	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	4	2	.	.	ENST00000414716.3:c.3592C>A	p.Arg1198Ser	p.R1198S	ENST00000414716	NM_001112726.2	1198	Cgc/Agc	0	1	1	UPI00001FDCF7	0	NA	ENST00000414716		ENSG00000099814	20362		6	2.485		HGNC	p.R1199S		CEP170B		SNV							ENST00000453495	protein_coding	getma.org/?cm=var&var=hg19,14,105354168,C,A&fts=all		hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF18,Pfam_domain:PF15308		R/S		A	medium	3820/6705		getma.org/?cm=msa&ty=f&p=K0284_HUMAN&rb=1091&re=1290&var=R1198S	deleterious(0)	E9PFC1_HUMAN			YES	CEP170B,missense_variant,p.Arg1199Ser,ENST00000453495,;CEP170B,missense_variant,p.Arg1198Ser,ENST00000414716,NM_001112726.2;CEP170B,missense_variant,p.Arg1128Ser,ENST00000556508,NM_015005.2;CEP170B,missense_variant,p.Arg1128Ser,ENST00000418279,;							MODERATE	3592/4665	R1198S	C170B_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000404151		CCDS45175.1			1	
MAGEB10	0	LGGM	GRCh37	X	27839744	27839744	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	8	2	.	.	ENST00000356790.2:c.321C>A	p.Pro107=	p.P107=	ENST00000356790	NM_182506.3	107	ccC/ccA	0	1	1	UPI000013F050	0		ENST00000356790		ENSG00000177689	25377		10			HGNC	p.P107P		MAGEB10		SNV							ENST00000356790	protein_coding			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36		P		A		566/1953							YES	MAGEB10,synonymous_variant,p.=,ENST00000356790,NM_182506.3;							LOW	321/1044		MAGBA_HUMAN			Transcript			.	ENSP00000368304		CCDS35221.1			1	
RECQL5	0	LGGM	GRCh37	17	73620669	73620669	+	downstream_gene_variant	3'Flank	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	13	2	.	.				ENST00000317905	NM_004259.6			0	1	1	UPI0000133477	0		ENST00000317905		ENSG00000108469	9950		15		2265	HGNC	p.T222K		RECQL5		SNV							ENST00000293201	protein_coding							A		-/3704				Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN			YES	RECQL5,downstream_gene_variant,,ENST00000317905,NM_004259.6;RECQL5,downstream_gene_variant,,ENST00000423245,;RECQL5,downstream_gene_variant,,ENST00000580707,;RECQL5,downstream_gene_variant,,ENST00000581825,;RECQL5,downstream_gene_variant,,ENST00000582548,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578382,;MYO15B,non_coding_transcript_exon_variant,,ENST00000580414,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578220,;MYO15B,non_coding_transcript_exon_variant,,ENST00000577948,;RECQL5,downstream_gene_variant,,ENST00000443199,;MYO15B,upstream_gene_variant,,ENST00000580262,;MYO15B,downstream_gene_variant,,ENST00000583140,;MYO15B,downstream_gene_variant,,ENST00000580096,;RECQL5,downstream_gene_variant,,ENST00000578865,;MYO15B,downstream_gene_variant,,ENST00000577785,;MYO15B,downstream_gene_variant,,ENST00000582597,;MYO15B,downstream_gene_variant,,ENST00000577613,;MYO15B,downstream_gene_variant,,ENST00000579052,;MYO15B,downstream_gene_variant,,ENST00000577986,;MYO15B,downstream_gene_variant,,ENST00000579048,;MYO15B,downstream_gene_variant,,ENST00000577296,;RECQL5,downstream_gene_variant,,ENST00000579265,;							MODIFIER	-/2976		RECQ5_HUMAN			Transcript			.	ENSP00000317636		CCDS42380.1			1	
ZIC1	0	LGGM	GRCh37	3	147128415	147128415	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	9	2	.	.	ENST00000282928.4:c.516C>A	p.Tyr172Ter	p.Y172*	ENST00000282928	NM_003412.3	172	taC/taA	0	1	1	UPI000013DD09	0	NA	ENST00000282928		ENSG00000152977	12872		11	0		HGNC	p.Y172X		ZIC1		SNV			1				ENST00000282928	protein_coding	getma.org/?cm=var&var=hg19,3,147128415,C,A&fts=all		hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26		Y/*		A	NA	1245/5241		NA					YES	ZIC1,stop_gained,p.Tyr172Ter,ENST00000282928,NM_003412.3;ZIC1,intron_variant,,ENST00000488404,;ZIC4,upstream_gene_variant,,ENST00000383075,NM_032153.5;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,;							HIGH	516/1344	Y172*	ZIC1_HUMAN			Transcript			.	ENSP00000282928		CCDS3136.1			1	
ABHD17A	0	LGGM	GRCh37	19	1881527	1881527	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	4	2	.	.	ENST00000250974.9:c.39delC	p.Cys14AlafsTer43	p.C14Afs*43	ENST00000250974	NM_031213.3	13	ttC/tt	0	1		UPI000004CC5E	0		ENST00000292577		ENSG00000129968	28756		6			HGNC	p.F13fs	rs762199778	ABHD17A	6.54E-05	deletion							ENST00000590661	protein_coding			hmmpanther:PTHR12277,hmmpanther:PTHR12277:SF52,Low_complexity_(Seg):seg		F/X		-		473/1757								ABHD17A,frameshift_variant,p.Cys14AlafsTer43,ENST00000292577,NM_001130111.1;ABHD17A,frameshift_variant,p.Cys14AlafsTer43,ENST00000250974,NM_031213.3;ABHD17A,frameshift_variant,p.Cys14AlafsTer43,ENST00000590661,;ABHD17A,frameshift_variant,p.Cys14AlafsTer43,ENST00000591351,;ABHD17A,non_coding_transcript_exon_variant,,ENST00000588598,;ABHD17A,upstream_gene_variant,,ENST00000592757,;	0.00013						HIGH	39/933		AB17A_HUMAN			Transcript			.	ENSP00000292577	4.21E-05	CCDS45902.1			1	
TSR1	0	LGGM	GRCh37	17	2234240	2234240	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	35	3	.	.	ENST00000301364.5:c.1659+1G>T		p.X553_splice	ENST00000301364	NM_018128.4			0	1	1	UPI00002005DF	0		ENST00000301364		ENSG00000167721	25542		38			HGNC	-		TSR1		SNV							ENST00000301364	protein_coding							A		-/5188							YES	TSR1,splice_donor_variant,,ENST00000301364,NM_018128.4;TSR1,downstream_gene_variant,,ENST00000576112,;SNORD91A,upstream_gene_variant,,ENST00000390861,NR_003072.1;SNORD91B,upstream_gene_variant,,ENST00000391250,NR_003073.1;SNORD91A,upstream_gene_variant,,ENST00000609620,;SNORD91B,upstream_gene_variant,,ENST00000608459,;TSR1,splice_donor_variant,,ENST00000575049,;TSR1,downstream_gene_variant,,ENST00000571806,;TSR1,downstream_gene_variant,,ENST00000576202,;							HIGH	1659/2415		TSR1_HUMAN			Transcript			.	ENSP00000301364		CCDS32525.1			1	
MIA3	0	LGGM	GRCh37	1	222818999	222818999	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	23	3	.	.	ENST00000344922.5:c.3581C>A	p.Ala1194Asp	p.A1194D	ENST00000344922	NM_198551.2	1194	gCc/gAc	0	1	1	UPI00001D75B3	0	NA	ENST00000344922		ENSG00000154305	24008		26	2.33		HGNC	p.A72D		MIA3		SNV							ENST00000340535	protein_coding	getma.org/?cm=var&var=hg19,1,222818999,C,A&fts=all		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF37		A/D		A	medium	3606/8142		getma.org/?cm=msa&ty=f&p=MIA3_HUMAN&rb=981&re=1219&var=A1194D	deleterious(0)				YES	MIA3,missense_variant,p.Ala1194Asp,ENST00000344922,NM_198551.2;MIA3,missense_variant,p.Ala1194Asp,ENST00000344441,;MIA3,missense_variant,p.Ala777Asp,ENST00000354906,;MIA3,missense_variant,p.Ala72Asp,ENST00000340535,;MIA3,intron_variant,,ENST00000344507,;MIA3,non_coding_transcript_exon_variant,,ENST00000470521,;MIA3,non_coding_transcript_exon_variant,,ENST00000495210,;MIA3,upstream_gene_variant,,ENST00000467190,;RP11-378J18.6,upstream_gene_variant,,ENST00000413568,;							MODERATE	3581/5724	A1194D	MIA3_HUMAN			Transcript		benign(0.221)	.	ENSP00000340900		CCDS41470.1			1	
SERINC3	0	LGGM	GRCh37	20	43139948	43139948	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	23	3	.	.	ENST00000342374.4:c.457G>C	p.Gly153Arg	p.G153R	ENST00000342374	NM_006811.2	153	Ggg/Cgg	0	1		UPI0000136B4D	0	NA	ENST00000255175		ENSG00000132824	11699		26	1.04		HGNC	p.G153R		SERINC3		SNV							ENST00000255175	protein_coding	getma.org/?cm=var&var=hg19,20,43139948,C,G&fts=all		Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF13,Transmembrane_helices:TMhelix		G/R		G	low	591/1726		getma.org/?cm=msa&ty=f&p=SERC3_HUMAN&rb=15&re=472&var=G153R	tolerated(0.08)	Q5H936_HUMAN,B4DUE9_HUMAN				SERINC3,missense_variant,p.Gly153Arg,ENST00000342374,NM_006811.2;SERINC3,missense_variant,p.Gly153Arg,ENST00000255175,NM_198941.1;SERINC3,missense_variant,p.Gly98Arg,ENST00000541235,;SERINC3,downstream_gene_variant,,ENST00000468234,;							MODERATE	457/1422	G153R	SERC3_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000255175		CCDS13333.1			1	
PCBP4	0	LGGM	GRCh37	3	51994649	51994649	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	25	3	.	.	ENST00000461554.1:c.148C>A	p.Arg50=	p.R50=	ENST00000461554	NM_001174100.1	50	Cgg/Agg	0	1		UPI00001313CB	0		ENST00000322099		ENSG00000090097	8652		28			HGNC	p.P48Q		PCBP4		SNV							ENST00000471308	protein_coding			PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF135,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791		R		T		295/1964				C9K0A2_HUMAN,C9JZY3_HUMAN,C9JTY5_HUMAN,C9JSA6_HUMAN,C9J5V4_HUMAN,C9IZV9_HUMAN				PCBP4,synonymous_variant,p.=,ENST00000461554,NM_001174100.1;PCBP4,synonymous_variant,p.=,ENST00000355852,NM_033008.2;PCBP4,synonymous_variant,p.=,ENST00000484633,NM_020418.3;PCBP4,synonymous_variant,p.=,ENST00000322099,NM_033010.2;PCBP4,synonymous_variant,p.=,ENST00000395014,;PCBP4,synonymous_variant,p.=,ENST00000428823,;PCBP4,synonymous_variant,p.=,ENST00000471622,;PCBP4,synonymous_variant,p.=,ENST00000466412,;PCBP4,synonymous_variant,p.=,ENST00000468324,;PCBP4,synonymous_variant,p.=,ENST00000483411,;PCBP4,synonymous_variant,p.=,ENST00000497653,;RP11-155D18.14,synonymous_variant,p.=,ENST00000489595,;PCBP4,synonymous_variant,p.=,ENST00000490063,;PCBP4,5_prime_UTR_variant,,ENST00000395013,;GPR62,downstream_gene_variant,,ENST00000322241,NM_080865.3;PCBP4,downstream_gene_variant,,ENST00000461544,;RP11-155D18.12,downstream_gene_variant,,ENST00000488257,;PCBP4,missense_variant,p.Pro48Gln,ENST00000471308,;PCBP4,non_coding_transcript_exon_variant,,ENST00000492809,;PCBP4,non_coding_transcript_exon_variant,,ENST00000498822,;PCBP4,non_coding_transcript_exon_variant,,ENST00000497390,;PCBP4,non_coding_transcript_exon_variant,,ENST00000471358,;							LOW	148/1212		PCBP4_HUMAN			Transcript			.	ENSP00000322341		CCDS2839.1			1	
CCDC129	0	LGGM	GRCh37	7	31691569	31691569	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	33	3	.	.	ENST00000451887.2:c.2806C>A	p.Leu936Met	p.L936M	ENST00000451887	NM_001257968.1	936	Ctg/Atg	0	1		UPI00015A2549	0	NA	ENST00000407970		ENSG00000180347	27363		36	2.175		HGNC	p.L762M		CCDC129		SNV							ENST00000319386	protein_coding	getma.org/?cm=var&var=hg19,7,31691569,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF14723,hmmpanther:PTHR17469,hmmpanther:PTHR17469:SF12,Low_complexity_(Seg):seg		L/M		A	medium	2766/3269		getma.org/?cm=msa&ty=f&p=CC129_HUMAN&rb=1&re=1042&var=L910M	deleterious(0)	E7ERG9_HUMAN,E7EQ43_HUMAN,B8ZZ49_HUMAN				CCDC129,missense_variant,p.Leu762Met,ENST00000319386,;CCDC129,missense_variant,p.Leu818Met,ENST00000409210,;CCDC129,missense_variant,p.Leu936Met,ENST00000451887,NM_001257968.1;CCDC129,missense_variant,p.Leu910Met,ENST00000407970,NM_194300.3,NM_001257967.1;CCDC129,upstream_gene_variant,,ENST00000463693,;							MODERATE	2728/3135	L910M	CC129_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384416		CCDS5435.2			1	
COL5A1	0	LGGM	GRCh37	9	137623496	137623496	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	23	3	.	.	ENST00000371817.3:c.1319C>A	p.Thr440Asn	p.T440N	ENST00000371817	NM_001278074.1	440	aCc/aAc	0	1	1	UPI0000210EE3	0	NA	ENST00000371817		ENSG00000130635	2209		26	0.895		HGNC	p.T440N		COL5A1		SNV			1				ENST00000371817	protein_coding	getma.org/?cm=var&var=hg19,9,137623496,C,A&fts=all		hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023		T/N		A	low	1733/8468		getma.org/?cm=msa&ty=f&p=CO5A1_HUMAN&rb=430&re=466&var=T440N		Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN			YES	COL5A1,missense_variant,p.Thr440Asn,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,non_coding_transcript_exon_variant,,ENST00000469093,;							MODERATE	1319/5517	T440N	CO5A1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000360882		CCDS6982.1			1	
C9orf43	0	LGGM	GRCh37	9	116183423	116183423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	39	3	.	.	ENST00000288462.4:c.386C>A	p.Pro129His	p.P129H	ENST00000288462	NM_152786.2	129	cCt/cAt	0	1	1	UPI00000725EE	0	NA	ENST00000288462		ENSG00000157653	23570		42	0.695		HGNC	p.P129H		C9orf43		SNV							ENST00000374165	protein_coding	getma.org/?cm=var&var=hg19,9,116183423,C,A&fts=all		Pfam_domain:PF15504		P/H		A	neutral	832/2130		getma.org/?cm=msa&ty=f&p=CI043_HUMAN&rb=1&re=459&var=P129H	deleterious(0)				YES	C9orf43,missense_variant,p.Pro129His,ENST00000288462,NM_152786.2;C9orf43,missense_variant,p.Pro129His,ENST00000374165,NM_001278630.1,NM_001278629.1;C9orf43,non_coding_transcript_exon_variant,,ENST00000490544,;							MODERATE	386/1386	P129H	CI043_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000288462		CCDS6796.1			1	
FHDC1	0	LGGM	GRCh37	4	153896239	153896239	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	25	3	.	.	ENST00000511601.1:c.1796C>A	p.Ala599Glu	p.A599E	ENST00000511601		599	gCa/gAa	0	1		UPI00001D7673	0	NA	ENST00000260008		ENSG00000137460	29363		28	1.79		HGNC	p.A599E		FHDC1		SNV							ENST00000260008	protein_coding	getma.org/?cm=var&var=hg19,4,153896239,C,A&fts=all		hmmpanther:PTHR23213:SF194,hmmpanther:PTHR23213		A/E		A	low	1871/6480		getma.org/?cm=msa&ty=f&p=FHDC1_HUMAN&rb=458&re=657&var=A599E	tolerated(1)					FHDC1,missense_variant,p.Ala599Glu,ENST00000511601,;FHDC1,missense_variant,p.Ala599Glu,ENST00000260008,NM_033393.2;							MODERATE	1796/3432	A599E	FHDC1_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000260008		CCDS34081.1			1	
PPP1R15A	0	LGGM	GRCh37	19	49378138	49378138	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	17	3	.	.	ENST00000200453.5:c.1648C>A	p.Pro550Thr	p.P550T	ENST00000200453	NM_014330.3	550	Ccc/Acc	0	1	1	UPI000006F652	0	NA	ENST00000200453		ENSG00000087074	14375		20	1.32		HGNC	p.P550T		PPP1R15A		SNV							ENST00000200453	protein_coding	getma.org/?cm=var&var=hg19,19,49378138,C,A&fts=all		Pfam_domain:PF10488,hmmpanther:PTHR16489,hmmpanther:PTHR16489:SF10,Low_complexity_(Seg):seg		P/T		A	low	1917/2378		getma.org/?cm=msa&ty=f&p=PR15A_HUMAN&rb=536&re=619&var=P550T	deleterious(0.02)				YES	PPP1R15A,missense_variant,p.Pro550Thr,ENST00000200453,NM_014330.3;PPP1R15A,missense_variant,p.Pro189Thr,ENST00000600406,;							MODERATE	1648/2025	P550T	PR15A_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000200453		CCDS12738.1			1	
ZNF835	0	LGGM	GRCh37	19	57175310	57175310	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	12	3	.	.	ENST00000537055.2:c.1257G>T	p.Lys419Asn	p.K419N	ENST00000537055	NM_001005850.2	419	aaG/aaT	0	1	1	UPI0000EE7244	0	getma.org/pdb.php?prot=ZN835_HUMAN&from=426&to=451&var=K441N	ENST00000537055		ENSG00000127903	34332		15	2.695		HGNC	p.K419N		ZNF835		SNV							ENST00000537055	protein_coding	getma.org/?cm=var&var=hg19,19,57175310,C,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/N		A	medium	1489/2779		getma.org/?cm=msa&ty=f&p=ZN835_HUMAN&rb=406&re=471&var=K441N	deleterious(0.04)	M0QYX0_HUMAN			YES	ZNF835,missense_variant,p.Lys419Asn,ENST00000537055,NM_001005850.2;ZNF835,downstream_gene_variant,,ENST00000601659,;							MODERATE	1257/1614	K441N	ZN835_HUMAN			Transcript		benign(0.367)	.	ENSP00000444747		CCDS56105.1			1	
NKAPL	0	LGGM	GRCh37	6	28227792	28227792	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	41	3	.	.	ENST00000343684.3:c.643G>A	p.Asp215Asn	p.D215N	ENST00000343684	NM_001007531.2	215	Gac/Aac	0	1	1	UPI0000072A86	0	NA	ENST00000343684		ENSG00000189134	21584		44	-0.69		HGNC	p.D215N		NKAPL		SNV							ENST00000343684	protein_coding	getma.org/?cm=var&var=hg19,6,28227792,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3		D/N		A	neutral	695/1639		getma.org/?cm=msa&ty=f&p=NKAPL_HUMAN&rb=201&re=290&var=D215N	tolerated(0.21)				YES	NKAPL,missense_variant,p.Asp215Asn,ENST00000343684,NM_001007531.2;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;							MODERATE	643/1209	D215N	NKAPL_HUMAN			Transcript		unknown(0)	.	ENSP00000345716		CCDS34353.1			1	
BAZ1B	0	LGGM	GRCh37	7	72903641	72903641	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	41	3	.	.	ENST00000339594.4:c.774G>A	p.Arg258=	p.R258=	ENST00000339594	NM_032408.3	258	cgG/cgA	0	1	1	UPI0000126731	0		ENST00000339594		ENSG00000009954	961		44			HGNC	p.R258R		BAZ1B		SNV			1				ENST00000404251	protein_coding			hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF60		R		T		1113/6102							YES	BAZ1B,synonymous_variant,p.=,ENST00000339594,NM_032408.3;BAZ1B,synonymous_variant,p.=,ENST00000404251,;							LOW	774/4452		BAZ1B_HUMAN			Transcript			.	ENSP00000342434		CCDS5549.1			1	
DLX1	0	LGGM	GRCh37	2	172950570	172950570	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	37	3	.	.	ENST00000361725.4:c.165C>A	p.Gly55=	p.G55=	ENST00000361725	NM_178120.4	55	ggC/ggA	0	1	1	UPI0000185FE8	0		ENST00000361725		ENSG00000144355	2914		40			HGNC	p.G55G		DLX1		SNV							ENST00000361725	protein_coding			hmmpanther:PTHR24327:SF21,hmmpanther:PTHR24327		G		A		617/2640				Q53SU3_HUMAN,J3KP55_HUMAN,F8VXJ2_HUMAN			YES	DLX1,synonymous_variant,p.=,ENST00000361725,NM_178120.4;DLX1,synonymous_variant,p.=,ENST00000341900,NM_001038493.1;DLX1,synonymous_variant,p.=,ENST00000361609,;DLX1,synonymous_variant,p.=,ENST00000469444,;METAP1D,downstream_gene_variant,,ENST00000315796,NM_199227.1;DLX1,upstream_gene_variant,,ENST00000550686,;DLX1,non_coding_transcript_exon_variant,,ENST00000409492,;DLX1,upstream_gene_variant,,ENST00000475989,;							LOW	165/768		DLX1_HUMAN			Transcript			.	ENSP00000354478		CCDS2247.2			1	
POC1B-GALNT4	0	LGGM	GRCh37	12	89917956	89917956	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	39	3	.	.	ENST00000529983.2:c.371G>A	p.Cys124Tyr	p.C124Y	ENST00000529983	NM_003774.4	124	tGt/tAt	0	1	1	UPI0000228FE1	0	NA	ENST00000548729		ENSG00000259075	42957		42	3.05		HGNC	p.C124Y	rs774089086	POC1B-GALNT4	6.06E-05	SNV							ENST00000529983	protein_coding	getma.org/?cm=var&var=hg19,12,89917956,C,T&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF7,Superfamily_domains:SSF53448		C/Y		T	medium	665/5436		getma.org/?cm=msa&ty=f&p=GALT4_HUMAN&rb=1&re=137&var=C124Y	deleterious(0)	F8VUJ3_HUMAN			YES	POC1B-GALNT4,missense_variant,p.Cys121Tyr,ENST00000548729,NM_001199781.1,NM_001199782.1;GALNT4,missense_variant,p.Cys124Tyr,ENST00000529983,NM_003774.4;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000313546,NM_172240.2;POC1B-GALNT4,intron_variant,,ENST00000547474,;POC1B,intron_variant,,ENST00000549035,NM_001199777.1;GALNT4,intron_variant,,ENST00000413530,;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000549504,;RP11-734K2.4,upstream_gene_variant,,ENST00000605233,;POC1B,intron_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000547496,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000546830,;POC1B,intron_variant,,ENST00000547274,;							MODERATE	362/1728	C124Y				Transcript		probably_damaging(0.999)	.	ENSP00000447852	8.27E-06	CCDS55860.1			1	
PCDHGA1	0	LGGM	GRCh37	5	140710985	140710985	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	40	3	.	.	ENST00000517417.1:c.734C>A	p.Ala245Glu	p.A245E	ENST00000517417	NM_018912.2	245	gCa/gAa	0	1	1	UPI0000070596	0	getma.org/pdb.php?prot=PCDG1_HUMAN&from=243&to=347&var=A245E	ENST00000517417		ENSG00000204956	8696		43	-0.115		HGNC	p.A245E		PCDHGA1		SNV							ENST00000378105	protein_coding	getma.org/?cm=var&var=hg19,5,140710985,C,A&fts=all		Gene3D:2.60.40.60,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF108,Superfamily_domains:SSF49313		A/E		A	neutral	734/4602		getma.org/?cm=msa&ty=f&p=PCDG1_HUMAN&rb=243&re=347&var=A245E	deleterious_low_confidence(0.01)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA1,missense_variant,p.Ala245Glu,ENST00000517417,NM_018912.2;PCDHGA1,missense_variant,p.Ala245Glu,ENST00000378105,NM_031993.1;AC005618.6,downstream_gene_variant,,ENST00000606901,;AC005618.6,downstream_gene_variant,,ENST00000606674,;							MODERATE	734/2796	A245E	PCDG1_HUMAN			Transcript		benign(0.006)	.	ENSP00000431083		CCDS54922.1			1	
ASB6	0	LGGM	GRCh37	9	132400320	132400320	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	24	3	.	.	ENST00000277458.4:c.1015A>C	p.Lys339Gln	p.K339Q	ENST00000277458	NM_017873.3	339	Aaa/Caa	0	1	1	UPI000004A09F	0	NA	ENST00000277458		ENSG00000148331	17181		27	-0.55		HGNC	p.K260Q		ASB6		SNV							ENST00000450050	protein_coding	getma.org/?cm=var&var=hg19,9,132400320,T,G&fts=all		hmmpanther:PTHR24132:SF0,hmmpanther:PTHR24132		K/Q		G	neutral	1181/2330		getma.org/?cm=msa&ty=f&p=ASB6_HUMAN&rb=208&re=371&var=K339Q	tolerated(0.56)				YES	ASB6,missense_variant,p.Lys339Gln,ENST00000277458,NM_017873.3;ASB6,missense_variant,p.Lys260Gln,ENST00000450050,;ASB6,3_prime_UTR_variant,,ENST00000277459,NM_177999.2;NTMT1,downstream_gene_variant,,ENST00000372486,NM_001286796.1;NTMT1,downstream_gene_variant,,ENST00000372483,NM_014064.2,NM_001286797.1,NM_001286798.1;NTMT1,downstream_gene_variant,,ENST00000459968,;NTMT1,downstream_gene_variant,,ENST00000482347,NM_001286803.1;NTMT1,downstream_gene_variant,,ENST00000372480,;NTMT1,downstream_gene_variant,,ENST00000372481,NM_001286800.1;RP11-483H20.4,upstream_gene_variant,,ENST00000455074,;NTMT1,downstream_gene_variant,,ENST00000486391,;NTMT1,downstream_gene_variant,,ENST00000481189,;							MODERATE	1015/1266	K339Q	ASB6_HUMAN			Transcript		benign(0.002)	.	ENSP00000277458		CCDS6924.1			1	
PGM5	0	LGGM	GRCh37	9	71098946	71098946	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	44	3	.	.	ENST00000396396.1:c.1461C>A	p.Gly487=	p.G487=	ENST00000396396	NM_021965.3	487	ggC/ggA	0	1	1	UPI0000210ABF	0		ENST00000396396		ENSG00000154330	8908		47			HGNC	p.G487G		PGM5		SNV							ENST00000396396	protein_coding			hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF27,Gene3D:3.30.310.50,Superfamily_domains:SSF55957		G		A		1690/3338							YES	PGM5,synonymous_variant,p.=,ENST00000396396,NM_021965.3;PGM5,non_coding_transcript_exon_variant,,ENST00000472639,;							LOW	1461/1704		PGM5_HUMAN			Transcript			.	ENSP00000379678		CCDS6622.2			1	
MACF1	0	LGGM	GRCh37	1	39800655	39800655	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	47	3	.	.	ENST00000545844.1:c.4629+7630C>A		*1543*	ENST00000545844				0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		50	0		HGNC	p.Q1239K		MACF1		SNV							ENST00000289893	protein_coding	getma.org/?cm=var&var=hg19,1,39800655,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37		Q/K		A	neutral	8497/23440		getma.org/?cm=msa&ty=f&p=H3BPE1_HUMAN&rb=2601&re=2800&var=Q2799K		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Gln2799Lys,ENST00000564288,;MACF1,missense_variant,p.Gln2836Lys,ENST00000567887,;MACF1,missense_variant,p.Gln2804Lys,ENST00000372915,;MACF1,missense_variant,p.Gln1239Lys,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,;							MODERATE	8410/22167	Q2799K	MACF1_HUMAN			Transcript		benign(0.002)	.	ENSP00000362006					1	
OXNAD1	0	LGGM	GRCh37	3	16345036	16345036	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	42	3	.	.	ENST00000285083.5:c.906C>A	p.Pro302=	p.P302=	ENST00000285083	NM_138381.3	302	ccC/ccA	0	1	1	UPI0000071465	0		ENST00000285083		ENSG00000154814	25128		45			HGNC	p.P302P		OXNAD1		SNV							ENST00000285083	protein_coding			hmmpanther:PTHR19370:SF68,hmmpanther:PTHR19370,Gene3D:3.40.50.80,Superfamily_domains:SSF52343		P		A		1371/3929							YES	OXNAD1,synonymous_variant,p.=,ENST00000285083,NM_138381.3;OXNAD1,synonymous_variant,p.=,ENST00000606098,;OXNAD1,synonymous_variant,p.=,ENST00000605932,;OXNAD1,synonymous_variant,p.=,ENST00000435829,;OXNAD1,synonymous_variant,p.=,ENST00000544043,;OXNAD1,3_prime_UTR_variant,,ENST00000442255,;OXNAD1,downstream_gene_variant,,ENST00000452581,;							LOW	906/939		OXND1_HUMAN			Transcript			.	ENSP00000285083		CCDS2630.1			1	
SRRM2	0	LGGM	GRCh37	16	2812752	2812752	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	90	4	.	.	ENST00000301740.8:c.2223C>A	p.Ser741Arg	p.S741R	ENST00000301740	NM_016333.3	741	agC/agA	0	1	1	UPI000049DDFC	0	NA	ENST00000301740		ENSG00000167978	16639		94	0.695		HGNC	p.S741R		SRRM2		SNV							ENST00000571093	protein_coding	getma.org/?cm=var&var=hg19,16,2812752,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093		S/R		A	neutral	2772/9353		getma.org/?cm=msa&ty=f&p=SRRM2_HUMAN&rb=561&re=839&var=S741R		I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN			YES	SRRM2,missense_variant,p.Ser741Arg,ENST00000301740,NM_016333.3;SRRM2,missense_variant,p.Ser741Arg,ENST00000576924,;SRRM2,missense_variant,p.Ser645Arg,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,;							MODERATE	2223/8259	S741R	SRRM2_HUMAN			Transcript		unknown(0)	.	ENSP00000301740		CCDS32373.1			1	
DNAJC10	0	LGGM	GRCh37	2	183622431	183622431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	31	4	.	.	ENST00000264065.7:c.1822C>A	p.Leu608Met	p.L608M	ENST00000264065	NM_018981.2	608	Ctg/Atg	0	1	1	UPI000007376C	0	getma.org/pdb.php?prot=DJC10_HUMAN&from=557&to=660&var=L608M	ENST00000264065		ENSG00000077232	24637		35	2.02		HGNC	p.L608M		DNAJC10		SNV							ENST00000264065	protein_coding	getma.org/?cm=var&var=hg19,2,183622431,C,A&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF3,Gene3D:3.40.30.10,Pfam_domain:PF00085,PIRSF_domain:PIRSF037293,Superfamily_domains:SSF52833		L/M		A	medium	2237/20129		getma.org/?cm=msa&ty=f&p=DJC10_HUMAN&rb=557&re=660&var=L608M	tolerated(0.3)	Q8N4C5_HUMAN			YES	DNAJC10,missense_variant,p.Leu608Met,ENST00000264065,NM_018981.2,NM_001271581.1;DNAJC10,3_prime_UTR_variant,,ENST00000418559,;DNAJC10,non_coding_transcript_exon_variant,,ENST00000491074,;							MODERATE	1822/2382	L608M	DJC10_HUMAN			Transcript		benign(0.213)	.	ENSP00000264065		CCDS33345.1			1	
HECW1	0	LGGM	GRCh37	7	43485123	43485123	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	17	5	.	.	ENST00000395891.2:c.2352G>A	p.Pro784=	p.P784=	ENST00000395891	NM_015052.3	784	ccG/ccA	0	1	1	UPI0000D74C41	0		ENST00000395891		ENSG00000002746	22195	0.000115	22			HGNC	p.P784P	rs750828862,COSM3230295,COSM3230296	HECW1		SNV						0,1,1	ENST00000453890	protein_coding			hmmpanther:PTHR11254:SF79,hmmpanther:PTHR11254		P		A		2957/9501				A4D1V5_HUMAN			YES	HECW1,synonymous_variant,p.=,ENST00000395891,NM_015052.3;HECW1,synonymous_variant,p.=,ENST00000453890,NM_001287059.1;HECW1,downstream_gene_variant,,ENST00000471043,;					0,1,1		LOW	2352/4821		HECW1_HUMAN			Transcript			.	ENSP00000379228	8.34E-06	CCDS5469.2			1	
NKAPL	0	LGGM	GRCh37	6	28227371	28227371	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	18	5	.	.	ENST00000343684.3:c.222G>A	p.Arg74=	p.R74=	ENST00000343684	NM_001007531.2	74	cgG/cgA	0	1	1	UPI0000072A86	0		ENST00000343684		ENSG00000189134	21584		23			HGNC	p.R74R		NKAPL		SNV							ENST00000343684	protein_coding			hmmpanther:PTHR13087,hmmpanther:PTHR13087:SF3		R		A		274/1639							YES	NKAPL,synonymous_variant,p.=,ENST00000343684,NM_001007531.2;ZKSCAN4,upstream_gene_variant,,ENST00000423974,;							LOW	222/1209		NKAPL_HUMAN			Transcript			.	ENSP00000345716		CCDS34353.1			1	
CSF1R	0	LGGM	GRCh37	5	149459876	149459876	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	9	5	.	.	ENST00000286301.3:c.331C>T	p.Leu111=	p.L111=	ENST00000286301	NM_005211.3	111	Cta/Tta	0	1	1	UPI000004984A	0		ENST00000286301		ENSG00000182578	2433		14			HGNC	p.L111L		CSF1R		SNV			1				ENST00000286301	protein_coding			hmmpanther:PTHR24416:SF47,hmmpanther:PTHR24416,Gene3D:2.60.40.10,PIRSF_domain:PIRSF500947,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF48726		L		A		623/3989				Q6LEI2_HUMAN,D6RGW1_HUMAN			YES	CSF1R,synonymous_variant,p.=,ENST00000286301,NM_005211.3,NM_001288705.1;CSF1R,synonymous_variant,p.=,ENST00000543093,;CSF1R,5_prime_UTR_variant,,ENST00000511344,;CSF1R,synonymous_variant,p.=,ENST00000504875,;CSF1R,non_coding_transcript_exon_variant,,ENST00000502660,;							LOW	331/2919		CSF1R_HUMAN			Transcript			.	ENSP00000286301		CCDS4302.1			1	
ITIH5	0	LGGM	GRCh37	10	7679191	7679191	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	81	5	.	.	ENST00000256861.6:c.652G>T	p.Asp218Tyr	p.D218Y	ENST00000256861	NM_030569.6	218	Gat/Tat	0	1	1	UPI00001F8AF3	0	NA	ENST00000256861		ENSG00000123243	21449		86	1.735		HGNC	p.D218Y		ITIH5		SNV							ENST00000397146	protein_coding	getma.org/?cm=var&var=hg19,10,7679191,C,A&fts=all		hmmpanther:PTHR10338:SF62,hmmpanther:PTHR10338		D/Y		A	low	731/6722		getma.org/?cm=msa&ty=f&p=ITIH5_HUMAN&rb=162&re=294&var=D218Y	deleterious(0.04)				YES	ITIH5,missense_variant,p.Asp218Tyr,ENST00000256861,NM_030569.6;ITIH5,missense_variant,p.Asp218Tyr,ENST00000397145,NM_001001851.2;ITIH5,missense_variant,p.Asp218Tyr,ENST00000397146,;ITIH5,splice_region_variant,,ENST00000446830,;ITIH5,splice_region_variant,,ENST00000434980,;							MODERATE	652/2871	D218Y	ITIH5_HUMAN			Transcript		possibly_damaging(0.712)	.	ENSP00000256861					1	
TP53	0	LGGM	GRCh37	17	7578190	7578190	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	9	5	.	.	ENST00000269305.4:c.659A>G	p.Tyr220Cys	p.Y220C	ENST00000269305	NM_001126112.2	220	tAt/tGt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y220C	ENST00000269305	pathogenic	ENSG00000141510	11998		14	3.02		HGNC	p.Y220C	rs121912666,TP53_g.12728A>G,COSM10758,COSM99720,COSM99718,COSM3355993,COSM1644277,COSM99719	TP53		SNV			1			1,0,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7578190,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/C		C	medium	849/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y220C	deleterious(0)	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			YES	TP53,missense_variant,p.Tyr220Cys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr220Cys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr220Cys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr220Cys,ENST00000445888,;TP53,missense_variant,p.Tyr220Cys,ENST00000359597,;TP53,missense_variant,p.Tyr220Cys,ENST00000413465,;TP53,missense_variant,p.Tyr88Cys,ENST00000509690,;TP53,missense_variant,p.Tyr127Cys,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,;					0,0,1,1,1,1,1,1		MODERATE	659/1182	Y220C	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	25404506
PPP1R21	0	LGGM	GRCh37	2	48734521	48734521	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	32	5	.	.	ENST00000294952.8:c.2082C>T	p.Ala694=	p.A694=	ENST00000294952	NM_001135629.2	694	gcC/gcT	0	1	1	UPI000015C523	0		ENST00000294952		ENSG00000162869	30595		37			HGNC	p.A652A	rs781766986	PPP1R21		SNV							ENST00000449090	protein_coding			hmmpanther:PTHR21448,Pfam_domain:PF10212		A		T		2239/3142	4.50E-05			F8W7E1_HUMAN			YES	PPP1R21,synonymous_variant,p.=,ENST00000294952,NM_001135629.2;PPP1R21,synonymous_variant,p.=,ENST00000281394,NM_001193475.1,NM_152994.4;PPP1R21,synonymous_variant,p.=,ENST00000449090,;PPP1R21,non_coding_transcript_exon_variant,,ENST00000476199,;PPP1R21,3_prime_UTR_variant,,ENST00000416913,;PPP1R21,3_prime_UTR_variant,,ENST00000431614,;							LOW	2082/2343		PPR21_HUMAN			Transcript			.	ENSP00000294952	2.47E-05	CCDS46278.1			1	
GIGYF2	0	LGGM	GRCh37	2	233712126	233712126	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	48	6	.	.	ENST00000409451.3:c.3592T>C	p.Tyr1198His	p.Y1198H	ENST00000409451		1198	Tat/Cat	0	1		UPI00001BD8AE	0	NA	ENST00000373563		ENSG00000204120	11960		54	2.405		HGNC	p.Y1199H		GIGYF2		SNV			1				ENST00000373566	protein_coding	getma.org/?cm=var&var=hg19,2,233712126,T,C&fts=all		hmmpanther:PTHR14445,hmmpanther:PTHR14445:SF38		Y/H		C	medium	3724/5847		getma.org/?cm=msa&ty=f&p=PERQ2_HUMAN&rb=990&re=1189&var=Y1177H		C9JZC0_HUMAN,C9JXQ0_HUMAN,C9JRZ2_HUMAN,C9JPV7_HUMAN,C9JHT0_HUMAN,C9JH18_HUMAN,C9J7G1_HUMAN,C9J1A6_HUMAN,C9J0V6_HUMAN,B9EG55_HUMAN				GIGYF2,missense_variant,p.Tyr1199His,ENST00000373566,;GIGYF2,missense_variant,p.Tyr1177His,ENST00000409547,NM_015575.3;GIGYF2,missense_variant,p.Tyr1199His,ENST00000409480,NM_001103147.1;GIGYF2,missense_variant,p.Tyr1198His,ENST00000409451,;GIGYF2,missense_variant,p.Tyr1177His,ENST00000373563,NM_001103146.1;GIGYF2,missense_variant,p.Tyr1171His,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,;							MODERATE	3529/3900	Y1177H	PERQ2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000362664		CCDS33401.1			1	
GLI3	0	LGGM	GRCh37	7	42004531	42004531	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	33	6	.	.	ENST00000395925.3:c.4140C>T	p.Val1380=	p.V1380=	ENST00000395925	NM_000168.5	1380	gtC/gtT	0	1	1	UPI000020EE4C	0		ENST00000395925		ENSG00000106571	4319		39			HGNC	p.V1380V		GLI3		SNV			1				ENST00000395925	protein_coding			hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		V		A		4225/8208				C9J9N4_HUMAN			YES	GLI3,synonymous_variant,p.=,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							LOW	4140/4743		GLI3_HUMAN			Transcript			.	ENSP00000379258		CCDS5465.1			1	
RBP4	0	LGGM	GRCh37	10	95360717	95360717	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	10	6	.	.	ENST00000371467.1:c.69A>G	p.Arg23=	p.R23=	ENST00000371467		23	cgA/cgG	0	1		UPI0000044958	0		ENST00000371464		ENSG00000138207	9922		16			HGNC	p.R21R		RBP4		SNV			1				ENST00000371469	protein_coding			hmmpanther:PTHR11873,hmmpanther:PTHR11873:SF2,Gene3D:2.40.128.20,PIRSF_domain:PIRSF036893,PIRSF_domain:PIRSF500204,Superfamily_domains:SSF50814		R		C		143/1068								RBP4,synonymous_variant,p.=,ENST00000371467,;RBP4,synonymous_variant,p.=,ENST00000371464,NM_006744.3;RBP4,synonymous_variant,p.=,ENST00000371469,;FFAR4,intron_variant,,ENST00000604414,;							LOW	69/606		RET4_HUMAN			Transcript			.	ENSP00000360519		CCDS31249.1			1	
CDH2	0	LGGM	GRCh37	18	25591861	25591861	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	68	6	.	.	ENST00000269141.3:c.495A>C	p.Pro165=	p.P165=	ENST00000269141	NM_001792.3	165	ccA/ccC	0	1	1	UPI000013D7FD	0		ENST00000269141		ENSG00000170558	1759		74			HGNC	p.P134P		CDH2		SNV							ENST00000399380	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF79,hmmpanther:PTHR24027,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		P		G		919/4332				C9JMH2_HUMAN,C9J126_HUMAN			YES	CDH2,synonymous_variant,p.=,ENST00000269141,NM_001792.3;CDH2,synonymous_variant,p.=,ENST00000399380,;CDH2,synonymous_variant,p.=,ENST00000418492,;CDH2,synonymous_variant,p.=,ENST00000430882,;CDH2,downstream_gene_variant,,ENST00000413878,;							LOW	495/2721		CADH2_HUMAN			Transcript			.	ENSP00000269141		CCDS11891.1			1	
ZNF365	0	LGGM	GRCh37	10	64415194	64415194	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	36	6	.	.	ENST00000410046.3:c.1130-962C>G		*377*	ENST00000410046	NM_199451.2			0	1	1	UPI00002323B9	0	NA	ENST00000410046		ENSG00000138311	18194		42	0		HGNC	p.P65R		ZNF365		SNV			1				ENST00000395251	protein_coding	getma.org/?cm=var&var=hg19,10,64415194,C,G&fts=all						G	neutral	-/3379		getma.org/?cm=msa&ty=f&p=TALAN_HUMAN&rb=50&re=120&var=P65R		C9J1G1_HUMAN			YES	ZNF365,missense_variant,p.Pro65Arg,ENST00000395251,NM_199452.3;ZNF365,intron_variant,,ENST00000410046,NM_199451.2;ZNF365,intron_variant,,ENST00000395249,;AC067751.1,upstream_gene_variant,,ENST00000579246,;ZNF365,non_coding_transcript_exon_variant,,ENST00000461412,;ZNF365,intron_variant,,ENST00000373784,;ZNF365,intron_variant,,ENST00000344640,;							MODIFIER	-/1389	P65R	ZN365_HUMAN			Transcript			.	ENSP00000387091		CCDS7264.1			1	
LRP1B	0	LGGM	GRCh37	2	141135782	141135782	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	35	7	.	.	ENST00000389484.3:c.10605T>C	p.Asp3535=	p.D3535=	ENST00000389484	NM_018557.2	3535	gaT/gaC	0	1	1	UPI00001B045B	0		ENST00000389484		ENSG00000168702	6693		42			HGNC	p.D3535D		LRP1B		SNV							ENST00000389484	protein_coding			Gene3D:4.10.400.10,Pfam_domain:PF00057,PROSITE_patterns:PS01209,PROSITE_profiles:PS50068,SMART_domains:SM00181,SMART_domains:SM00192,Superfamily_domains:SSF57424		D		G		11577/16535				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			YES	LRP1B,synonymous_variant,p.=,ENST00000389484,NM_018557.2;							LOW	10605/13800		LRP1B_HUMAN			Transcript			.	ENSP00000374135		CCDS2182.1			1	
IP6K3	0	LGGM	GRCh37	6	33693388	33693388	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	21	7	.	.	ENST00000451316.1:c.595T>C	p.Leu199=	p.L199=	ENST00000451316	NM_001142883.1	199	Ttg/Ctg	0	1		UPI000013E117	0		ENST00000293756		ENSG00000161896	17269		28			HGNC	p.L199L		IP6K3		SNV							ENST00000451316	protein_coding			hmmpanther:PTHR12400,hmmpanther:PTHR12400:SF40,Pfam_domain:PF03770,Superfamily_domains:SSF56104		L		G		922/2610				Q5TAQ4_HUMAN				IP6K3,synonymous_variant,p.=,ENST00000451316,NM_001142883.1;IP6K3,synonymous_variant,p.=,ENST00000293756,NM_054111.4;							LOW	595/1233		IP6K3_HUMAN			Transcript			.	ENSP00000293756		CCDS34435.1			1	
COL4A4	0	LGGM	GRCh37	2	227895226	227895226	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	35	8	.	.	ENST00000396625.3:c.3906C>A	p.Pro1302=	p.P1302=	ENST00000396625	NM_000092.4	1302	ccC/ccA	0	1	1	UPI000013D987	0		ENST00000396625		ENSG00000081052	2206		43			HGNC	p.P1302P		COL4A4		SNV			1				ENST00000396625	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24021:SF5,hmmpanther:PTHR24021,Pfam_domain:PF01391		P		T		4114/9895							YES	COL4A4,synonymous_variant,p.=,ENST00000396625,NM_000092.4;COL4A4,synonymous_variant,p.=,ENST00000329662,;							LOW	3906/5073		CO4A4_HUMAN			Transcript			.	ENSP00000379866		CCDS42828.1			1	
ZNF831	0	LGGM	GRCh37	20	57769509	57769509	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	30	8	.	.	ENST00000371030.2:c.3435A>T	p.Pro1145=	p.P1145=	ENST00000371030	NM_178457.2	1145	ccA/ccT	0	1	1	UPI00001D82E4	0		ENST00000371030		ENSG00000124203	16167		38			HGNC	p.P1145P		ZNF831		SNV							ENST00000371030	protein_coding			hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		P		T		3435/9404							YES	ZNF831,synonymous_variant,p.=,ENST00000371030,NM_178457.2;							LOW	3435/5034		ZN831_HUMAN			Transcript			.	ENSP00000360069		CCDS42894.1			1	
CYP11B2	0	LGGM	GRCh37	8	143996283	143996283	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	5	9	.	.	ENST00000323110.2:c.637G>A	p.Gly213Ser	p.G213S	ENST00000323110	NM_000498.3	213	Ggc/Agc	0	1	1	UPI00001282CF	0	getma.org/pdb.php?prot=C11B2_HUMAN&from=42&to=499&var=G213S	ENST00000323110		ENSG00000179142	2592		14	1.115		HGNC	p.G213S		CYP11B2		SNV			1				ENST00000323110	protein_coding	getma.org/?cm=var&var=hg19,8,143996283,C,T&fts=all		hmmpanther:PTHR24279:SF46,hmmpanther:PTHR24279,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		G/S		T	low	640/2936		getma.org/?cm=msa&ty=f&p=C11B2_HUMAN&rb=42&re=499&var=G213S	tolerated(0.36)	Q14098_HUMAN			YES	CYP11B2,missense_variant,p.Gly213Ser,ENST00000323110,NM_000498.3;GML,intron_variant,,ENST00000522728,;							MODERATE	637/1512	G213S	C11B2_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000325822		CCDS6393.1			1	
MAGI2	0	LGGM	GRCh37	7	77764449	77764449	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	38	9	.	.	ENST00000354212.4:c.2920C>T	p.Arg974Trp	p.R974W	ENST00000354212	NM_012301.3	974	Cgg/Tgg	0	1	1	UPI00001615D2	0	getma.org/pdb.php?prot=MAGI2_HUMAN&from=920&to=1007&var=R974W	ENST00000354212		ENSG00000187391	18957		47	2.595		HGNC	p.R974W	rs751815413,COSM3882534	MAGI2		SNV						0,1	ENST00000354212	protein_coding	getma.org/?cm=var&var=hg19,7,77764449,G,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR10316:SF27,hmmpanther:PTHR10316,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/W		A	medium	3174/6861		getma.org/?cm=msa&ty=f&p=MAGI2_HUMAN&rb=920&re=1007&var=R974W	deleterious(0)				YES	MAGI2,missense_variant,p.Arg974Trp,ENST00000354212,NM_012301.3;MAGI2,missense_variant,p.Arg960Trp,ENST00000419488,;MAGI2,missense_variant,p.Arg974Trp,ENST00000522391,;MAGI2,non_coding_transcript_exon_variant,,ENST00000519748,;					0,1		MODERATE	2920/4368	R974W	MAGI2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000346151		CCDS5594.1			1	
PCDHA6	0	LGGM	GRCh37	5	140209491	140209491	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	45	10	.	.	ENST00000529310.1:c.1815G>A	p.Ala605=	p.A605=	ENST00000529310	NM_018909.2	605	gcG/gcA	0	1	1	UPI00001273CE	0		ENST00000529310		ENSG00000081842	8672		55			HGNC	p.A605A		PCDHA6		SNV							ENST00000529310	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24028:SF83,hmmpanther:PTHR24028,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		A		A		1929/5374							YES	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;							LOW	1815/2853		PCDA6_HUMAN			Transcript			.	ENSP00000433378		CCDS47281.1			1	
ZNF804A	0	LGGM	GRCh37	2	185803146	185803146	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	73	10	.	.	ENST00000302277.6:c.3023A>G	p.Lys1008Arg	p.K1008R	ENST00000302277	NM_194250.1	1008	aAa/aGa	0	1	1	UPI00001B4B18	0	NA	ENST00000302277		ENSG00000170396	21711		83	1.79		HGNC	p.K1008R		ZNF804A		SNV							ENST00000302277	protein_coding	getma.org/?cm=var&var=hg19,2,185803146,A,G&fts=all		hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614		K/R		G	low	3617/4690		getma.org/?cm=msa&ty=f&p=Z804A_HUMAN&rb=930&re=1207&var=K1008R	deleterious(0)				YES	ZNF804A,missense_variant,p.Lys1008Arg,ENST00000302277,NM_194250.1;							MODERATE	3023/3630	K1008R	Z804A_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000303252		CCDS2291.1			1	
RHBDD2	0	LGGM	GRCh37	7	75517326	75517326	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	43	10	.	.	ENST00000006777.6:c.754G>T	p.Gly252Cys	p.G252C	ENST00000006777	NM_001040456.1	252	Ggc/Tgc	0	1	1	UPI0000072213	0	NA	ENST00000006777		ENSG00000005486	23082		53	0.805		HGNC	p.G252C		RHBDD2		SNV							ENST00000006777	protein_coding	getma.org/?cm=var&var=hg19,7,75517326,G,T&fts=all		hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF33		G/C		T	low	889/1802		getma.org/?cm=msa&ty=f&p=RHBD2_HUMAN&rb=206&re=364&var=G252C	deleterious(0)				YES	RHBDD2,missense_variant,p.Gly111Cys,ENST00000318622,NM_001040457.1;RHBDD2,missense_variant,p.Gly252Cys,ENST00000006777,NM_001040456.1;RHBDD2,missense_variant,p.Gly111Cys,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468304,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000467406,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;							MODERATE	754/1095	G252C	RHBD2_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000006777		CCDS43602.1			1	
DCHS2	0	LGGM	GRCh37	4	155241534	155241534	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	23	10	.	.	ENST00000357232.4:c.3652T>C	p.Ser1218Pro	p.S1218P	ENST00000357232	NM_017639.3	1218	Tca/Cca	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=1169&to=1260&var=S1218P	ENST00000357232		ENSG00000197410	23111		33	3.01		HGNC	p.S1218P		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155241534,A,G&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		S/P		G	medium	3652/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=1169&re=1260&var=S1218P	deleterious(0.02)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Ser1218Pro,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;							MODERATE	3652/8751	S1218P	PCD23_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000349768		CCDS3785.1			1	
RHBDD2	0	LGGM	GRCh37	7	75517327	75517327	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	43	10	.	.	ENST00000006777.6:c.755G>T	p.Gly252Val	p.G252V	ENST00000006777	NM_001040456.1	252	gGc/gTc	0	1	1	UPI0000072213	0	NA	ENST00000006777		ENSG00000005486	23082		53	0.805		HGNC	p.G252V		RHBDD2		SNV							ENST00000006777	protein_coding	getma.org/?cm=var&var=hg19,7,75517327,G,T&fts=all		hmmpanther:PTHR22790,hmmpanther:PTHR22790:SF33		G/V		T	low	890/1802		getma.org/?cm=msa&ty=f&p=RHBD2_HUMAN&rb=206&re=364&var=G252V	deleterious(0)				YES	RHBDD2,missense_variant,p.Gly111Val,ENST00000318622,NM_001040457.1;RHBDD2,missense_variant,p.Gly252Val,ENST00000006777,NM_001040456.1;RHBDD2,missense_variant,p.Gly111Val,ENST00000428119,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000468304,;RHBDD2,non_coding_transcript_exon_variant,,ENST00000467406,;RHBDD2,3_prime_UTR_variant,,ENST00000454791,;							MODERATE	755/1095	G252V	RHBD2_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000006777		CCDS43602.1			1	
ITGAV	0	LGGM	GRCh37	2	187506303	187506303	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	90	10	.	.	ENST00000261023.3:c.1147G>A	p.Asp383Asn	p.D383N	ENST00000261023	NM_002210.4	383	Gat/Aat	0	1	1	UPI000013D12E	0	getma.org/pdb.php?prot=ITAV_HUMAN&from=370&to=406&var=D383N	ENST00000261023		ENSG00000138448	6150		100	3.155		HGNC	p.D347N		ITGAV		SNV							ENST00000374907	protein_coding	getma.org/?cm=var&var=hg19,2,187506303,G,A&fts=all		Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF4,SMART_domains:SM00191,Superfamily_domains:SSF69318		D/N		A	medium	1421/7030		getma.org/?cm=msa&ty=f&p=ITAV_HUMAN&rb=370&re=406&var=D383N	deleterious(0)	L7RXH0_HUMAN			YES	ITGAV,missense_variant,p.Asp383Asn,ENST00000261023,NM_002210.4;ITGAV,missense_variant,p.Asp347Asn,ENST00000374907,NM_001145000.2;ITGAV,missense_variant,p.Asp337Asn,ENST00000433736,NM_001144999.2;AC017101.10,non_coding_transcript_exon_variant,,ENST00000453665,;							MODERATE	1147/3147	D383N	ITAV_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000261023		CCDS2292.1			1	
STAB2	0	LGGM	GRCh37	12	104099446	104099446	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	24	11	.	.	ENST00000388887.2:c.3937T>C	p.Phe1313Leu	p.F1313L	ENST00000388887	NM_017564.9	1313	Ttc/Ctc	0	1	1	UPI00001ADDF4	0	NA	ENST00000388887		ENSG00000136011	18629		35	1.765		HGNC	p.F1313L		STAB2		SNV							ENST00000388887	protein_coding	getma.org/?cm=var&var=hg19,12,104099446,T,C&fts=all		hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03		F/L		C	low	4141/8251		getma.org/?cm=msa&ty=f&p=STAB2_HUMAN&rb=1268&re=1467&var=F1313L	tolerated(0.39)	H0YIF3_HUMAN			YES	STAB2,missense_variant,p.Phe1313Leu,ENST00000388887,NM_017564.9;STAB2,3_prime_UTR_variant,,ENST00000549474,;							MODERATE	3937/7656	F1313L	STAB2_HUMAN			Transcript		benign(0.253)	.	ENSP00000373539		CCDS31888.1			1	
PCDH18	0	LGGM	GRCh37	4	138453240	138453240	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	27	11	.	.	ENST00000344876.4:c.3G>T	p.Met1?	p.M1?	ENST00000344876	NM_019035.3	1	atG/atT	0	1	1	UPI0000047A88	0	NA	ENST00000344876		ENSG00000189184	14268		38	0		HGNC	p.M1I		PCDH18		SNV							ENST00000344876	protein_coding	getma.org/?cm=var&var=hg19,4,138453240,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9		M/I		A	NA	390/5906		http://getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=1&re=57&var=M1I	tolerated_low_confidence(0.13)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,start_lost,p.Met1?,ENST00000344876,NM_019035.3;PCDH18,start_lost,p.Met1?,ENST00000412923,;PCDH18,intron_variant,,ENST00000507846,;PCDH18,intron_variant,,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;							HIGH	Mar-08	M1I	PCD18_HUMAN			Transcript		benign(0.01)	.	ENSP00000355082		CCDS34064.1			1	
PRPF38B	0	LGGM	GRCh37	1	109238901	109238901	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	33	11	.	.	ENST00000370025.4:c.500A>G	p.Tyr167Cys	p.Y167C	ENST00000370025	NM_018061.2	167	tAt/tGt	0	1	1	UPI000013CF13	0	NA	ENST00000370025		ENSG00000134186	25512		44	2.28		HGNC	p.Y56C		PRPF38B		SNV							ENST00000370021	protein_coding	getma.org/?cm=var&var=hg19,1,109238901,A,G&fts=all		hmmpanther:PTHR23142,Pfam_domain:PF03371		Y/C		G	medium	769/3693		getma.org/?cm=msa&ty=f&p=PR38B_HUMAN&rb=42&re=233&var=Y167C	deleterious(0)				YES	PRPF38B,missense_variant,p.Tyr56Cys,ENST00000370021,;PRPF38B,missense_variant,p.Tyr167Cys,ENST00000370025,NM_018061.2;PRPF38B,missense_variant,p.Tyr167Cys,ENST00000370022,;PRPF38B,splice_region_variant,,ENST00000467302,;PRPF38B,upstream_gene_variant,,ENST00000485810,;							MODERATE	500/1641	Y167C	PR38B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359042		CCDS788.1			1	
VCX	0	LGGM	GRCh37	X	7811734	7811734	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	56	12	.	.	ENST00000381059.3:c.298C>T	p.Gln100Ter	p.Q100*	ENST00000381059	NM_013452.2	100	Cag/Tag	0	1	1	UPI0000138291	0	NA	ENST00000381059		ENSG00000182583	12667		68	0		HGNC	p.Q100X		VCX		SNV							ENST00000381059	protein_coding	getma.org/?cm=var&var=hg19,X,7811734,C,T&fts=all		hmmpanther:PTHR15251:SF0,hmmpanther:PTHR15251,Pfam_domain:PF15231		Q/*		T	NA	517/967		NA					YES	VCX,stop_gained,p.Gln100Ter,ENST00000381059,NM_013452.2;VCX,stop_gained,p.Gln100Ter,ENST00000341408,;							HIGH	298/621	Q100*	VCX1_HUMAN			Transcript			.	ENSP00000370447		CCDS14128.1			1	
HS3ST5	0	LGGM	GRCh37	6	114378982	114378982	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	138	12	.	.	ENST00000312719.5:c.480T>C	p.Phe160=	p.F160=	ENST00000312719		160	ttT/ttC	0	1	1	UPI00000740A8	0		ENST00000312719		ENSG00000249853	19419		150			HGNC	p.F160F		HS3ST5		SNV							ENST00000411826	protein_coding			hmmpanther:PTHR10605:SF33,hmmpanther:PTHR10605,Gene3D:3.40.50.300,Pfam_domain:PF00685,Superfamily_domains:SSF52540		F		G		1669/3901							YES	HS3ST5,synonymous_variant,p.=,ENST00000312719,;HS3ST5,synonymous_variant,p.=,ENST00000411826,NM_153612.3;RP3-399L15.3,intron_variant,,ENST00000519104,;RP3-399L15.3,intron_variant,,ENST00000519270,;RP3-399L15.3,intron_variant,,ENST00000523087,;							LOW	480/1041		HS3S5_HUMAN			Transcript			.	ENSP00000427888		CCDS34517.1			1	
ANO1	0	LGGM	GRCh37	11	70007401	70007401	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	50	12	.	.	ENST00000355303.5:c.1713C>A	p.Ile571=	p.I571=	ENST00000355303	NM_018043.5	571	atC/atA	0	1	1	UPI000013CE03	0		ENST00000355303		ENSG00000131620	21625		62			HGNC	p.I571I		ANO1		SNV							ENST00000355303	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF13,Pfam_domain:PF04547		I		A		2018/4790							YES	ANO1,synonymous_variant,p.=,ENST00000355303,NM_018043.5;ANO1,synonymous_variant,p.=,ENST00000538023,;ANO1,synonymous_variant,p.=,ENST00000398543,;ANO1,synonymous_variant,p.=,ENST00000531349,;ANO1,synonymous_variant,p.=,ENST00000530676,;ANO1,synonymous_variant,p.=,ENST00000316296,;ANO1,synonymous_variant,p.=,ENST00000531300,;ANO1,upstream_gene_variant,,ENST00000529636,;							LOW	1713/2961		ANO1_HUMAN			Transcript			.	ENSP00000347454		CCDS44663.1			1	
ADNP	0	LGGM	GRCh37	20	49510617	49510617	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	49	12	.	.	ENST00000396029.3:c.634G>A	p.Gly212Ser	p.G212S	ENST00000396029	NM_015339.2	212	Ggc/Agc	0	1		UPI00000375B9	0	NA	ENST00000349014		ENSG00000101126	15766		61	0		HGNC	p.G212S		ADNP		SNV			1				ENST00000396032	protein_coding	getma.org/?cm=var&var=hg19,20,49510617,C,T&fts=all		hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1		G/S		T	neutral	931/5963		getma.org/?cm=msa&ty=f&p=ADNP_HUMAN&rb=201&re=400&var=G212S	tolerated(0.86)	E9PQK8_HUMAN				ADNP,missense_variant,p.Gly212Ser,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,missense_variant,p.Gly212Ser,ENST00000371602,;ADNP,missense_variant,p.Gly212Ser,ENST00000349014,NM_001282532.1;ADNP,missense_variant,p.Gly212Ser,ENST00000396032,NM_181442.1;ADNP,downstream_gene_variant,,ENST00000534467,;							MODERATE	634/3309	G212S	ADNP_HUMAN			Transcript		benign(0)	.	ENSP00000342905		CCDS13433.1			1	
LIX1L	0	LGGM	GRCh37	1	145498578	145498578	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	42	12	.	.	ENST00000369308.3:c.814A>G	p.Ile272Val	p.I272V	ENST00000369308	NM_153713.2	272	Att/Gtt	0	1	1	UPI0000074663	0	NA	ENST00000369308		ENSG00000152022	28715		54	0.69		HGNC	p.I272V		LIX1L		SNV							ENST00000369308	protein_coding	getma.org/?cm=var&var=hg19,1,145498578,A,G&fts=all		Pfam_domain:PF14954,hmmpanther:PTHR31139		I/V		G	neutral	888/3979		getma.org/?cm=msa&ty=f&p=LIX1L_HUMAN&rb=1&re=335&var=I272V	deleterious(0.04)				YES	LIX1L,missense_variant,p.Ile272Val,ENST00000369308,NM_153713.2;RP11-315I20.1,non_coding_transcript_exon_variant,,ENST00000601726,;RP11-315I20.1,intron_variant,,ENST00000598354,;RP11-315I20.1,intron_variant,,ENST00000598103,;RP11-315I20.1,intron_variant,,ENST00000599626,;RP11-315I20.1,intron_variant,,ENST00000599469,;RP11-315I20.1,intron_variant,,ENST00000597144,;RP11-315I20.1,intron_variant,,ENST00000595518,;RP11-315I20.1,intron_variant,,ENST00000595494,;RP11-315I20.1,intron_variant,,ENST00000600340,;RP11-315I20.1,intron_variant,,ENST00000412239,;RP11-315I20.1,intron_variant,,ENST00000599147,;RP11-315I20.1,intron_variant,,ENST00000437797,;RP11-315I20.1,intron_variant,,ENST00000448561,;RP11-315I20.1,intron_variant,,ENST00000421764,;RP11-315I20.1,upstream_gene_variant,,ENST00000366105,;RP11-315I20.1,upstream_gene_variant,,ENST00000437207,;							MODERATE	814/1014	I272V	LIX1L_HUMAN			Transcript		benign(0.01)	.	ENSP00000358314		CCDS915.1			1	
MUSK	0	LGGM	GRCh37	9	113563165	113563165	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	50	13	.	.	ENST00000374448.4:c.2507G>T	p.Arg836Leu	p.R836L	ENST00000374448	NM_005592.3	836	cGt/cTt	0	1	1	UPI000006D2F7	0	getma.org/pdb.php?prot=MUSK_HUMAN&from=575&to=856&var=R836L	ENST00000374448		ENSG00000030304	7525		63	-0.05		HGNC	p.R836L		MUSK		SNV			1				ENST00000374448	protein_coding	getma.org/?cm=var&var=hg19,9,113563165,G,T&fts=all		Prints_domain:PR00109,Superfamily_domains:SSF56112,SMART_domains:SM00219,Gene3D:1.10.510.10,Pfam_domain:PF07714,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63,PROSITE_profiles:PS50011		R/L		T	neutral	2641/2754		getma.org/?cm=msa&ty=f&p=MUSK_HUMAN&rb=575&re=856&var=R836L	deleterious(0)				YES	MUSK,missense_variant,p.Arg828Leu,ENST00000416899,;MUSK,missense_variant,p.Arg836Leu,ENST00000374448,NM_005592.3,NM_001166281.1;MUSK,missense_variant,p.Arg836Leu,ENST00000189978,;							MODERATE	2507/2610	R836L	MUSK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363571		CCDS48005.1			1	
AEBP1	0	LGGM	GRCh37	7	44152676	44152676	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	45	13	.	.	ENST00000223357.3:c.2656C>T	p.Leu886=	p.L886=	ENST00000223357	NM_001129.4	886	Ctg/Ttg	0	1	1	UPI00000746E2	0		ENST00000223357		ENSG00000106624	303		58			HGNC	p.L886L	rs748511270	AEBP1	0.000303	SNV							ENST00000223357	protein_coding			hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		L		T		2961/4081				B4DJB3_HUMAN			YES	AEBP1,synonymous_variant,p.=,ENST00000223357,NM_001129.4;AEBP1,synonymous_variant,p.=,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000436844,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;POLD2,downstream_gene_variant,,ENST00000456038,;POLD2,downstream_gene_variant,,ENST00000418438,;POLD2,downstream_gene_variant,,ENST00000436400,;MIR4649,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;AEBP1,downstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000463464,;POLD2,downstream_gene_variant,,ENST00000470867,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000464871,;POLD2,downstream_gene_variant,,ENST00000496539,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000489883,;POLD2,downstream_gene_variant,,ENST00000467469,;POLD2,downstream_gene_variant,,ENST00000461116,;							LOW	2656/3477		AEBP1_HUMAN			Transcript			.	ENSP00000223357	4.12E-05	CCDS5476.1			1	
AEBP1	0	LGGM	GRCh37	7	44152675	44152675	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	45	13	.	.	ENST00000223357.3:c.2655G>T	p.Glu885Asp	p.E885D	ENST00000223357	NM_001129.4	885	gaG/gaT	0	1	1	UPI00000746E2	0	getma.org/pdb.php?prot=AEBP1_HUMAN&from=570&to=896&var=E885D	ENST00000223357		ENSG00000106624	303		58	1.01		HGNC	p.E885D		AEBP1		SNV							ENST00000223357	protein_coding	getma.org/?cm=var&var=hg19,7,44152675,G,T&fts=all		hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532,Gene3D:3.40.630.10,Pfam_domain:PF00246,SMART_domains:SM00631,Superfamily_domains:SSF53187		E/D		T	low	2960/4081		getma.org/?cm=msa&ty=f&p=AEBP1_HUMAN&rb=570&re=896&var=E885D	deleterious(0.03)	B4DJB3_HUMAN			YES	AEBP1,missense_variant,p.Glu885Asp,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Glu460Asp,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000436844,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;POLD2,downstream_gene_variant,,ENST00000456038,;POLD2,downstream_gene_variant,,ENST00000418438,;POLD2,downstream_gene_variant,,ENST00000436400,;MIR4649,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;AEBP1,downstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000463464,;POLD2,downstream_gene_variant,,ENST00000470867,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000464871,;POLD2,downstream_gene_variant,,ENST00000496539,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000489883,;POLD2,downstream_gene_variant,,ENST00000467469,;POLD2,downstream_gene_variant,,ENST00000461116,;							MODERATE	2655/3477	E885D	AEBP1_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000223357		CCDS5476.1			1	
GLB1	0	LGGM	GRCh37	3	33118596	33118596	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	52	13	.	.	ENST00000307363.5:c.76-4391G>T		*26*	ENST00000307363	NM_000404.2			0	1	1	UPI0000E5A543	0		ENST00000307363		ENSG00000170266	4298		65			HGNC	p.R70L		GLB1		SNV			1				ENST00000436768	protein_coding							A		-/2616				C9JF15_HUMAN,C9J539_HUMAN			YES	GLB1,missense_variant,p.Arg70Leu,ENST00000445488,;GLB1,missense_variant,p.Arg70Leu,ENST00000436768,;GLB1,5_prime_UTR_variant,,ENST00000450835,;GLB1,intron_variant,,ENST00000307363,NM_000404.2;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,,ENST00000498537,;GLB1,intron_variant,,ENST00000464355,;GLB1,intron_variant,,ENST00000485698,;GLB1,intron_variant,,ENST00000482097,;GLB1,intron_variant,,ENST00000438227,;GLB1,upstream_gene_variant,,ENST00000446732,;SUMO2P10,upstream_gene_variant,,ENST00000452006,;							MODIFIER	-/2034		BGAL_HUMAN			Transcript			.	ENSP00000306920		CCDS43061.1			1	
UBN2	0	LGGM	GRCh37	7	138968446	138968446	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	23	13	.	.	ENST00000473989.3:c.2795A>G	p.His932Arg	p.H932R	ENST00000473989	NM_173569.3	932	cAt/cGt	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		36	1.04		HGNC	p.H849R		UBN2		SNV							ENST00000288561	protein_coding	getma.org/?cm=var&var=hg19,7,138968446,A,G&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		H/R		G	low	2795/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=791&re=1346&var=H932R	deleterious_low_confidence(0.02)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.His932Arg,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.His849Arg,ENST00000288561,;							MODERATE	2795/4044	H932R	UBN2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000418648		CCDS43655.2			1	
SENP1	0	LGGM	GRCh37	12	48457498	48457498	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	51	14	.	.	ENST00000004980.5:c.1402G>T	p.Asp468Tyr	p.D468Y	ENST00000004980		468	Gat/Tat	0	1		UPI000003756B	0	getma.org/pdb.php?prot=SENP1_HUMAN&from=464&to=642&var=D468Y	ENST00000448372		ENSG00000079387	17927		65	4.035		HGNC	p.D468Y	COSM218410	SENP1		SNV						1	ENST00000549518	protein_coding	getma.org/?cm=var&var=hg19,12,48457498,C,A&fts=all		Pfam_domain:PF02902,PROSITE_profiles:PS50600,hmmpanther:PTHR12606,hmmpanther:PTHR12606:SF7,Superfamily_domains:SSF54001		D/Y		A	high	1848/4726		getma.org/?cm=msa&ty=f&p=SENP1_HUMAN&rb=464&re=642&var=D468Y	deleterious(0)	F8VRZ8_HUMAN				SENP1,missense_variant,p.Asp468Tyr,ENST00000004980,;SENP1,missense_variant,p.Asp468Tyr,ENST00000448372,NM_001267595.1;SENP1,missense_variant,p.Asp468Tyr,ENST00000551330,;SENP1,missense_variant,p.Asp468Tyr,ENST00000549518,NM_001267594.1;SENP1,missense_variant,p.Asp468Tyr,ENST00000549595,;SENP1,3_prime_UTR_variant,,ENST00000339976,;SENP1,3_prime_UTR_variant,,ENST00000552189,;SENP1,non_coding_transcript_exon_variant,,ENST00000551358,;					1		MODERATE	1402/1932	D468Y	SENP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000394791					1	
SLCO1A2	0	LGGM	GRCh37	12	21467551	21467551	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	46	15	.	.	ENST00000307378.6:c.267T>A	p.Ile89=	p.I89=	ENST00000307378	NM_134431.3	89	atT/atA	0	1	1	UPI0000037575	0		ENST00000307378		ENSG00000084453	10956		61			HGNC	p.I89I		SLCO1A2		SNV							ENST00000450590	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Pfam_domain:PF03137,Gene3D:1.20.1250.20,hmmpanther:PTHR11388:SF16,hmmpanther:PTHR11388,PROSITE_profiles:PS50850		I		T		988/7682				C9K059_HUMAN,C9JUW6_HUMAN,C9JTF6_HUMAN,C9JHU9_HUMAN,C9JGK7_HUMAN,C9JG34_HUMAN,C9JCA7_HUMAN,B4DJE6_HUMAN			YES	SLCO1A2,synonymous_variant,p.=,ENST00000307378,NM_134431.3;SLCO1A2,synonymous_variant,p.=,ENST00000452078,NM_021094.3;SLCO1A2,synonymous_variant,p.=,ENST00000390670,;SLCO1A2,synonymous_variant,p.=,ENST00000453443,;SLCO1A2,synonymous_variant,p.=,ENST00000422327,;SLCO1A2,synonymous_variant,p.=,ENST00000450590,;SLCO1A2,synonymous_variant,p.=,ENST00000421294,;SLCO1A2,5_prime_UTR_variant,,ENST00000413682,;SLCO1A2,intron_variant,,ENST00000537524,;SLCO1A2,intron_variant,,ENST00000458504,;SLCO1A2,downstream_gene_variant,,ENST00000421287,;SLCO1A2,downstream_gene_variant,,ENST00000435179,;SLCO1A2,downstream_gene_variant,,ENST00000445053,;SLCO1A2,intron_variant,,ENST00000473830,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000480394,;SLCO1A2,non_coding_transcript_exon_variant,,ENST00000463718,;SLCO1A2,intron_variant,,ENST00000544290,;SLCO1A2,intron_variant,,ENST00000544020,;							LOW	267/2013		SO1A2_HUMAN			Transcript			.	ENSP00000305974		CCDS8686.1			1	
MAP1B	0	LGGM	GRCh37	5	71492923	71492923	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	26	15	.	.	ENST00000296755.7:c.3741A>G	p.Ser1247=	p.S1247=	ENST00000296755	NM_005909.3	1247	tcA/tcG	0	1	1	UPI000013E382	0		ENST00000296755		ENSG00000131711	6836		41			HGNC	p.S1247S		MAP1B		SNV							ENST00000296755	protein_coding			hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5,Low_complexity_(Seg):seg		S		G		4039/12034				D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,synonymous_variant,p.=,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							LOW	3741/7407		MAP1B_HUMAN			Transcript			.	ENSP00000296755		CCDS4012.1			1	
DMD	0	LGGM	GRCh37	X	32382796	32382796	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	22	15	.	.	ENST00000357033.4:c.5057A>G	p.Gln1686Arg	p.Q1686R	ENST00000357033	NM_004007.2	1686	cAg/cGg	0	1	1	UPI000049E111	0	NA	ENST00000357033		ENSG00000198947	2928		37	1.5		HGNC	p.Q1686R		DMD		SNV			1				ENST00000357033	protein_coding	getma.org/?cm=var&var=hg19,X,32382796,T,C&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00435,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966		Q/R		C	low	5264/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=1679&re=1778&var=Q1686R		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			YES	DMD,missense_variant,p.Gln1686Arg,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.Gln1682Arg,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,downstream_gene_variant,,ENST00000420596,;DMD,downstream_gene_variant,,ENST00000448370,;DMD,intron_variant,,ENST00000488902,;							MODERATE	5057/11058	Q1686R				Transcript		benign(0.145)	.	ENSP00000354923		CCDS14233.1			1	
CDH18	0	LGGM	GRCh37	5	19473629	19473629	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	56	16	.	.	ENST00000507958.1:c.2079T>G	p.Pro693=	p.P693=	ENST00000507958		693	ccT/ccG	0	1		UPI0000126DBD	0		ENST00000274170		ENSG00000145526	1757		72			HGNC	p.P693P		CDH18		SNV							ENST00000274170	protein_coding			hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,Pfam_domain:PF01049		P		C		2591/2885								CDH18,synonymous_variant,p.=,ENST00000507958,;CDH18,synonymous_variant,p.=,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,synonymous_variant,p.=,ENST00000274170,;CDH18,downstream_gene_variant,,ENST00000506372,;CDH18,downstream_gene_variant,,ENST00000502796,;CDH18,downstream_gene_variant,,ENST00000515257,;CDH18,non_coding_transcript_exon_variant,,ENST00000510297,;							LOW	2079/2373		CAD18_HUMAN			Transcript			.	ENSP00000274170		CCDS3889.1			1	
P2RY6	0	LGGM	GRCh37	11	73008138	73008138	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	54	17	.	.	ENST00000393590.2:c.575A>G	p.Tyr192Cys	p.Y192C	ENST00000393590	NM_001277208.1	192	tAt/tGt	0	1		UPI000005041C	0	getma.org/pdb.php?prot=P2RY6_HUMAN&from=43&to=301&var=Y192C	ENST00000349767		ENSG00000171631	8543		71	2.88		HGNC	p.Y192C		P2RY6		SNV							ENST00000542092	protein_coding	getma.org/?cm=var&var=hg19,11,73008138,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF16,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01068		Y/C		G	medium	988/1700		getma.org/?cm=msa&ty=f&p=P2RY6_HUMAN&rb=43&re=301&var=Y192C	deleterious(0)	F5GYF3_HUMAN,F5GX90_HUMAN				P2RY6,missense_variant,p.Tyr192Cys,ENST00000393590,NM_001277208.1,NM_001277207.1;P2RY6,missense_variant,p.Tyr192Cys,ENST00000540124,;P2RY6,missense_variant,p.Tyr192Cys,ENST00000393591,NM_176798.2;P2RY6,missense_variant,p.Tyr192Cys,ENST00000349767,NM_176796.2;P2RY6,missense_variant,p.Tyr192Cys,ENST00000542092,NM_001277205.1;P2RY6,missense_variant,p.Tyr192Cys,ENST00000540342,;P2RY6,missense_variant,p.Tyr192Cys,ENST00000393592,;P2RY6,missense_variant,p.Tyr192Cys,ENST00000538328,;P2RY6,missense_variant,p.Tyr192Cys,ENST00000535931,;P2RY6,missense_variant,p.Tyr31Cys,ENST00000536225,;P2RY6,downstream_gene_variant,,ENST00000544437,;							MODERATE	575/987	Y192C	P2RY6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000309771		CCDS8220.1			1	
ATP13A4	0	LGGM	GRCh37	3	193176913	193176913	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	57	17	.	.	ENST00000342695.4:c.1631A>T	p.Gln544Leu	p.Q544L	ENST00000342695	NM_032279.2	544	cAg/cTg	0	1	1	UPI0000520D50	0	getma.org/pdb.php?prot=AT134_HUMAN&from=483&to=857&var=Q544L	ENST00000342695		ENSG00000127249	25422		74	0.73		HGNC	p.Q544L		ATP13A4		SNV							ENST00000342695	protein_coding	getma.org/?cm=var&var=hg19,3,193176913,T,A&fts=all		hmmpanther:PTHR24093:SF279,hmmpanther:PTHR24093,Pfam_domain:PF12710,Gene3D:3.40.1110.10,TIGRFAM_domain:TIGR01657,Superfamily_domains:SSF81660		Q/L		A	neutral	1954/4208		getma.org/?cm=msa&ty=f&p=AT134_HUMAN&rb=483&re=857&var=Q544L	deleterious(0.03)				YES	ATP13A4,missense_variant,p.Gln544Leu,ENST00000342695,NM_032279.2;ATP13A4,missense_variant,p.Gln525Leu,ENST00000392443,;ATP13A4,missense_variant,p.Gln544Leu,ENST00000295548,;ATP13A4,missense_variant,p.Gln184Leu,ENST00000428352,;ATP13A4,3_prime_UTR_variant,,ENST00000450950,;ATP13A4,non_coding_transcript_exon_variant,,ENST00000490925,;							MODERATE	1631/3591	Q544L	AT134_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000339182		CCDS3304.2			1	
PRDM9	0	LGGM	GRCh37	5	23527534	23527534	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	50	21	.	.	ENST00000296682.3:c.2337G>T	p.Arg779Ser	p.R779S	ENST00000296682	NM_020227.2	779	agG/agT	0	1	1	UPI00006C9E90	0	getma.org/pdb.php?prot=PRDM9_HUMAN&from=762&to=786&var=R779S	ENST00000296682		ENSG00000164256	13994		71	-0.435		HGNC	p.R779S		PRDM9		SNV							ENST00000296682	protein_coding	getma.org/?cm=var&var=hg19,5,23527534,G,T&fts=all		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		R/S		T	neutral	2519/3691		getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=742&re=806&var=R779S	tolerated(0.68)	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN			YES	PRDM9,missense_variant,p.Arg779Ser,ENST00000296682,NM_020227.2;							MODERATE	2337/2685	R779S	PRDM9_HUMAN			Transcript		unknown(0)	.	ENSP00000296682		CCDS43307.1			1	
RPGRIP1	0	LGGM	GRCh37	14	21756173	21756173	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	69	22	.	.	ENST00000400017.2:c.38C>T	p.Pro13Leu	p.P13L	ENST00000400017	NM_020366.3	13	cCa/cTa	0	1	1	UPI0000071B81	0	NA	ENST00000400017		ENSG00000092200	13436		91	1.32		HGNC	p.P13L		RPGRIP1		SNV			1				ENST00000206660	protein_coding	getma.org/?cm=var&var=hg19,14,21756173,C,T&fts=all		hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF3		P/L		T	low	38/3940		getma.org/?cm=msa&ty=f&p=RPGR1_HUMAN&rb=1&re=319&var=P13L	deleterious(0.02)				YES	RPGRIP1,missense_variant,p.Pro13Leu,ENST00000206660,;RPGRIP1,missense_variant,p.Pro13Leu,ENST00000400017,NM_020366.3;RPGRIP1,missense_variant,p.Pro13Leu,ENST00000557771,;RPGRIP1,missense_variant,p.Pro13Leu,ENST00000556336,;							MODERATE	38/3861	P13L	RPGR1_HUMAN			Transcript		benign(0.041)	.	ENSP00000382895		CCDS45080.1			1	
DROSHA	0	LGGM	GRCh37	5	31468134	31468134	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	52	22	.	.	ENST00000344624.3:c.2278G>T	p.Glu760Ter	p.E760*	ENST00000344624		760	Gaa/Taa	0	1		UPI0000134351	0	NA	ENST00000344624		ENSG00000113360	17904		74	0		HGNC	p.E723X		DROSHA		SNV							ENST00000442743	protein_coding	getma.org/?cm=var&var=hg19,5,31468134,C,A&fts=all		hmmpanther:PTHR11207		E/*		A	NA	2325/5102		NA		E5RHD1_HUMAN				DROSHA,stop_gained,p.Glu760Ter,ENST00000511367,NM_013235.4;DROSHA,stop_gained,p.Glu760Ter,ENST00000344624,;DROSHA,stop_gained,p.Glu723Ter,ENST00000442743,;DROSHA,stop_gained,p.Glu723Ter,ENST00000513349,NM_001100412.1;DROSHA,non_coding_transcript_exon_variant,,ENST00000510375,;DROSHA,non_coding_transcript_exon_variant,,ENST00000512124,;DROSHA,upstream_gene_variant,,ENST00000505601,;DROSHA,downstream_gene_variant,,ENST00000512885,;DROSHA,non_coding_transcript_exon_variant,,ENST00000511803,;DROSHA,upstream_gene_variant,,ENST00000507174,;DROSHA,upstream_gene_variant,,ENST00000509608,;							HIGH	2278/4125	E760*	RNC_HUMAN			Transcript			.	ENSP00000339845		CCDS47195.1			1	
ZNF701	0	LGGM	GRCh37	19	53077368	53077368	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	69	26	.	.	ENST00000540331.1:c.166C>T	p.Arg56Trp	p.R56W	ENST00000540331	NM_001172655.1	56	Cgg/Tgg	0	1		UPI0001C53D22	0	NA	ENST00000301093		ENSG00000167562	25597		95	0		HGNC	p.R63W	rs367929162	ZNF701		SNV	T:0						ENST00000596514	protein_coding	getma.org/?cm=var&var=hg19,19,53077368,C,T&fts=all		Low_complexity_(Seg):seg		R/W	T:0.0002	T	neutral	201/2610		getma.org/?cm=msa&ty=f&p=B9EGF2_HUMAN&rb=1&re=73&var=R56W	tolerated(0.06)	M0R085_HUMAN,F5GZM6_HUMAN				ZNF701,missense_variant,p.Arg56Trp,ENST00000540331,NM_001172655.1;ZNF701,missense_variant,p.Arg56Trp,ENST00000301093,;ZNF701,missense_variant,p.Arg56Trp,ENST00000593941,;ZNF701,missense_variant,p.Arg63Trp,ENST00000596514,;ZNF701,5_prime_UTR_variant,,ENST00000391785,NM_018260.2;CTD-3099C6.7,downstream_gene_variant,,ENST00000599222,;ZNF701,non_coding_transcript_exon_variant,,ENST00000478039,;							MODERATE	166/1596	R56W				Transcript		benign(0.018)	.	ENSP00000301093		CCDS54311.1			1	
OGFRL1	0	LGGM	GRCh37	6	72011661	72011661	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	75	29	.	.	ENST00000370435.4:c.1265C>T	p.Ser422Phe	p.S422F	ENST00000370435	NM_024576.3	422	tCt/tTt	0	1	1	UPI000021D446	0	NA	ENST00000370435		ENSG00000119900	21378		104	1.15		HGNC	p.S422F		OGFRL1		SNV							ENST00000370435	protein_coding	getma.org/?cm=var&var=hg19,6,72011661,C,T&fts=all		hmmpanther:PTHR14015,hmmpanther:PTHR14015:SF2		S/F		T	low	1399/8391		getma.org/?cm=msa&ty=f&p=OGRL1_HUMAN&rb=322&re=451&var=S422F	deleterious_low_confidence(0)				YES	OGFRL1,missense_variant,p.Ser422Phe,ENST00000370435,NM_024576.3;RP3-331H24.5,intron_variant,,ENST00000602823,;RP11-154D6.1,intron_variant,,ENST00000591156,;RP11-154D6.1,intron_variant,,ENST00000587253,;RP11-154D6.1,intron_variant,,ENST00000588612,;RP11-154D6.1,intron_variant,,ENST00000586232,;RP11-154D6.1,intron_variant,,ENST00000586030,;RP11-154D6.1,intron_variant,,ENST00000412751,;RP11-154D6.1,intron_variant,,ENST00000432050,;RP11-154D6.1,intron_variant,,ENST00000423255,;RP11-154D6.1,downstream_gene_variant,,ENST00000587397,;RP11-154D6.1,downstream_gene_variant,,ENST00000587036,;RP11-154D6.1,downstream_gene_variant,,ENST00000450998,;RP11-154D6.1,downstream_gene_variant,,ENST00000585882,;							MODERATE	1265/1356	S422F	OGRL1_HUMAN			Transcript		possibly_damaging(0.485)	.	ENSP00000359464		CCDS34482.1			1	
OR2M3	0	LGGM	GRCh37	1	248367275	248367275	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110146	H110146N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	85	31	.	.	ENST00000456743.1:c.906G>A	p.Met302Ile	p.M302I	ENST00000456743	NM_001004689.1	302	atG/atA	0	1	1	UPI000004B234	0	NA	ENST00000456743		ENSG00000228198	8269		116	0.205		HGNC	p.M302I		OR2M3		SNV							ENST00000456743	protein_coding	getma.org/?cm=var&var=hg19,1,248367275,G,A&fts=all		Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453		M/I		A	neutral	944/1061		getma.org/?cm=msa&ty=f&p=OR2M3_HUMAN&rb=254&re=312&var=M302I	deleterious(0.01)				YES	OR2M3,missense_variant,p.Met302Ile,ENST00000456743,NM_001004689.1;							MODERATE	906/939	M302I	OR2M3_HUMAN			Transcript		benign(0.001)	.	ENSP00000389625		CCDS31107.1			1	
PCID2	0	LGGM	GRCh37	13	113862350	113862350	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	76	34	.	.	ENST00000246505.5:c.36+563T>G		*12*	ENST00000246505	NM_001258212.1			0	1		UPI000007187B	0		ENST00000337344		ENSG00000126226	25653		110			HGNC	p.V6V		PCID2		SNV							ENST00000375459	protein_coding							C		-/1898								PCID2,synonymous_variant,p.=,ENST00000375457,NM_001258213.1;PCID2,synonymous_variant,p.=,ENST00000375459,;PCID2,intron_variant,,ENST00000337344,NM_001127202.2;PCID2,intron_variant,,ENST00000246505,NM_001258212.1;PCID2,intron_variant,,ENST00000375479,NM_018386.3,NM_001127203.2;PCID2,intron_variant,,ENST00000375477,;CUL4A,upstream_gene_variant,,ENST00000451881,NM_003589.2,NM_001278514.1;CUL4A,upstream_gene_variant,,ENST00000326335,;CUL4A,upstream_gene_variant,,ENST00000375441,NM_001278513.1;CUL4A,upstream_gene_variant,,ENST00000375440,NM_001008895.2;PCID2,intron_variant,,ENST00000484641,;PCID2,intron_variant,,ENST00000475433,;PCID2,intron_variant,,ENST00000480971,;PCID2,intron_variant,,ENST00000491548,;CUL4A,upstream_gene_variant,,ENST00000463426,;CUL4A,upstream_gene_variant,,ENST00000474116,;CUL4A,upstream_gene_variant,,ENST00000488558,;CUL4A,upstream_gene_variant,,ENST00000498562,;CUL4A,upstream_gene_variant,,ENST00000494985,;							MODIFIER	-/1200		PCID2_HUMAN			Transcript			.	ENSP00000337405		CCDS9532.2			1	
PRKDC	0	LGGM	GRCh37	8	48848323	48848323	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110146	H110146N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	140	36	.	.	ENST00000314191.2:c.1416G>A	p.Gly472=	p.G472=	ENST00000314191	NM_006904.6	472	ggG/ggA	0	1	1	UPI000045790C	0		ENST00000314191		ENSG00000253729	9413		176			HGNC	p.G472G		PRKDC		SNV			1				ENST00000314191	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF54		G		T		1473/13506				F5GX40_HUMAN			YES	PRKDC,synonymous_variant,p.=,ENST00000314191,NM_006904.6;PRKDC,synonymous_variant,p.=,ENST00000338368,NM_001081640.1;PRKDC,non_coding_transcript_exon_variant,,ENST00000523565,;PRKDC,non_coding_transcript_exon_variant,,ENST00000518216,;PRKDC,downstream_gene_variant,,ENST00000535375,;							LOW	1416/12384		PRKDC_HUMAN			Transcript			.	ENSP00000313420					1	
PIK3R1	0	LGGM	GRCh37	5	67593386	67593386	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110146	H110146N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	136	38	.	.	ENST00000274335.5:c.2132A>G	p.Asn711Ser	p.N711S	ENST00000274335		711	aAt/aGt	0	1	1	UPI000013D9FF	0	getma.org/pdb.php?prot=P85A_HUMAN&from=624&to=718&var=N711S	ENST00000521381		ENSG00000145675	8979	8.64E-05	174	1.37		HGNC	p.N711S	rs374119964	PIK3R1		SNV	G:0.0002		1	9.61E-05			ENST00000274335	protein_coding	getma.org/?cm=var&var=hg19,5,67593386,A,G&fts=all		Gene3D:3.30.505.10,PROSITE_profiles:PS50001,hmmpanther:PTHR10155,hmmpanther:PTHR10155:SF3,Superfamily_domains:SSF55550		N/S	G:0	G	low	2748/7011		getma.org/?cm=msa&ty=f&p=P85A_HUMAN&rb=624&re=718&var=N711S	deleterious(0.01)	J7GXU7_HUMAN,J7GU64_HUMAN,E5RJY0_HUMAN,E5RHI0_HUMAN,E5RGI8_HUMAN,B3KWZ7_HUMAN			YES	PIK3R1,missense_variant,p.Asn711Ser,ENST00000521381,NM_181523.2;PIK3R1,missense_variant,p.Asn719Ser,ENST00000396611,;PIK3R1,missense_variant,p.Asn711Ser,ENST00000274335,;PIK3R1,missense_variant,p.Asn711Ser,ENST00000521657,;PIK3R1,missense_variant,p.Asn411Ser,ENST00000320694,NM_181524.1;PIK3R1,missense_variant,p.Asn348Ser,ENST00000523872,NM_001242466.1;PIK3R1,missense_variant,p.Asn441Ser,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,;							MODERATE	2132/2175	N711S	P85A_HUMAN			Transcript		possibly_damaging(0.882)	.	ENSP00000428056	1.65E-05	CCDS3993.1			1	
RXFP2	0	LGGM	GRCh37	13	32376488	32376488	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110146	H110146N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110146N.bam, H110146T.bam	Illumina HiSeq	115	54	.	.	ENST00000298386.2:c.2211T>A	p.Leu737=	p.L737=	ENST00000298386	NM_130806.3	737	ctT/ctA	0	1	1	UPI0000049589	0		ENST00000298386		ENSG00000133105	17318		169			HGNC	p.L737L		RXFP2		SNV			1				ENST00000298386	protein_coding					L		A		2282/2803							YES	RXFP2,synonymous_variant,p.=,ENST00000298386,NM_130806.3;RXFP2,synonymous_variant,p.=,ENST00000380314,NM_001166058.1;							LOW	2211/2265		RXFP2_HUMAN			Transcript			.	ENSP00000298386		CCDS9342.1			1	
PTCH2	0	LGGM	GRCh37	1	45294843	45294843	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	3	2	.	.	ENST00000372192.3:c.1357G>T	p.Ala453Ser	p.A453S	ENST00000372192	NM_003738.4	453	Gct/Tct	0	1	1	UPI00001328B8	0	NA	ENST00000372192		ENSG00000117425	9586		5	1.545		HGNC	p.A453S		PTCH2		SNV			1				ENST00000372192	protein_coding	getma.org/?cm=var&var=hg19,1,45294843,C,A&fts=all		Gene3D:2j8sB01,Pfam_domain:PF12349,PROSITE_profiles:PS50156,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF62,Superfamily_domains:SSF82866,TIGRFAM_domain:TIGR00918		A/S		A	low	1488/4225		getma.org/?cm=msa&ty=f&p=PTC2_HUMAN&rb=418&re=570&var=A453S	deleterious(0)				YES	PTCH2,missense_variant,p.Ala453Ser,ENST00000447098,NM_001166292.1;PTCH2,missense_variant,p.Ala453Ser,ENST00000372192,NM_003738.4;							MODERATE	1357/3612	A453S	PTC2_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000361266		CCDS516.1			1	
FCHO1	0	LGGM	GRCh37	19	17881284	17881284	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	7	2	.	.	ENST00000594202.1:c.387C>A	p.Gly129=	p.G129=	ENST00000594202	NM_001161357.1	129	ggC/ggA	0	1		UPI000004A0C6	0		ENST00000252771		ENSG00000130475	29002		9			HGNC	p.G129G		FCHO1		SNV							ENST00000596507	protein_coding			hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF6,Superfamily_domains:SSF103657		G		A		573/3118				M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN				FCHO1,synonymous_variant,p.=,ENST00000594202,NM_001161357.1;FCHO1,synonymous_variant,p.=,ENST00000596536,NM_015122.2;FCHO1,synonymous_variant,p.=,ENST00000389133,;FCHO1,synonymous_variant,p.=,ENST00000252771,;FCHO1,synonymous_variant,p.=,ENST00000539407,;FCHO1,synonymous_variant,p.=,ENST00000600676,NM_001161358.1;FCHO1,synonymous_variant,p.=,ENST00000596951,;FCHO1,synonymous_variant,p.=,ENST00000597512,;FCHO1,synonymous_variant,p.=,ENST00000595033,NM_001161359.1;FCHO1,synonymous_variant,p.=,ENST00000595023,;FCHO1,synonymous_variant,p.=,ENST00000596507,;FCHO1,synonymous_variant,p.=,ENST00000597718,;FCHO1,synonymous_variant,p.=,ENST00000600209,;FCHO1,synonymous_variant,p.=,ENST00000594068,;FCHO1,synonymous_variant,p.=,ENST00000595549,;FCHO1,synonymous_variant,p.=,ENST00000593833,;FCHO1,downstream_gene_variant,,ENST00000596309,;FCHO1,downstream_gene_variant,,ENST00000596865,;FCHO1,downstream_gene_variant,,ENST00000598932,;FCHO1,downstream_gene_variant,,ENST00000597474,;FCHO1,downstream_gene_variant,,ENST00000598086,;FCHO1,downstream_gene_variant,,ENST00000599236,;FCHO1,downstream_gene_variant,,ENST00000601247,;FCHO1,non_coding_transcript_exon_variant,,ENST00000597076,;FCHO1,upstream_gene_variant,,ENST00000600393,;FCHO1,upstream_gene_variant,,ENST00000596522,;							LOW	387/2670		FCHO1_HUMAN			Transcript			.	ENSP00000252771		CCDS32955.1			1	
ZNF567	0	LGGM	GRCh37	19	37211180	37211180	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	15	3	.	.	ENST00000585696.1:c.1461A>G	p.Thr487=	p.T487=	ENST00000585696		487	acA/acG	0	1		UPI000022A7F5	0		ENST00000536254		ENSG00000189042	28696		18			HGNC	p.T487T		ZNF567		SNV							ENST00000588311	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF25,SMART_domains:SM00355,Superfamily_domains:SSF57667		T		G		1776/2825								ZNF567,synonymous_variant,p.=,ENST00000585696,;ZNF567,synonymous_variant,p.=,ENST00000536254,;ZNF567,synonymous_variant,p.=,ENST00000360729,NM_152603.2;ZNF567,synonymous_variant,p.=,ENST00000588311,;ZNF567,synonymous_variant,p.=,ENST00000392163,;ZNF850,intron_variant,,ENST00000589390,;ZNF567,intron_variant,,ENST00000589264,;ZNF567,intron_variant,,ENST00000591308,;							LOW	1554/1944		ZN567_HUMAN			Transcript			.	ENSP00000441838					1	
ACAD10	0	LGGM	GRCh37	12	112194274	112194274	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	2	3	.	.	ENST00000455480.2:c.3270T>G	p.Ile1090Met	p.I1090M	ENST00000455480	NM_001136538.1	1090	atT/atG	0	1		UPI000013C8E1	0	getma.org/pdb.php?prot=ACD10_HUMAN&from=1056&to=1059&var=I1059M	ENST00000313698		ENSG00000111271	21597		5	0		HGNC	p.I1059M		ACAD10		SNV							ENST00000313698	protein_coding	getma.org/?cm=var&var=hg19,12,112194274,T,G&fts=all				I/M		G	neutral	3332/3959		getma.org/?cm=msa&ty=f&p=ACD10_HUMAN&rb=1026&re=1059&var=I1059M	deleterious(0.02)	F8VXK4_HUMAN,D6RFF6_HUMAN				ACAD10,missense_variant,p.Ile1090Met,ENST00000455480,NM_001136538.1;ACAD10,missense_variant,p.Ile1059Met,ENST00000313698,NM_025247.5;RP11-162P23.2,intron_variant,,ENST00000546840,;ACAD10,intron_variant,,ENST00000508303,;ACAD10,non_coding_transcript_exon_variant,,ENST00000512792,;ACAD10,non_coding_transcript_exon_variant,,ENST00000547491,;							MODERATE	3177/3180	I1059M	ACD10_HUMAN			Transcript		benign(0.202)	.	ENSP00000325137		CCDS31903.1			1	
IL16	0	LGGM	GRCh37	15	81592250	81592250	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	23	3	.	.	ENST00000302987.4:c.2583A>G	p.Arg861=	p.R861=	ENST00000302987		861	agA/agG	0	1	1	UPI0000229CE7	0		ENST00000302987		ENSG00000172349	5980		26			HGNC	p.R861R		IL16		SNV							ENST00000394660	protein_coding			hmmpanther:PTHR11324,hmmpanther:PTHR11324:SF2		R		G		2583/3999				H0YLL1_HUMAN			YES	IL16,synonymous_variant,p.=,ENST00000394660,NM_172217.3,NM_001172128.1;IL16,synonymous_variant,p.=,ENST00000302987,;IL16,synonymous_variant,p.=,ENST00000559388,;IL16,synonymous_variant,p.=,ENST00000394652,NM_004513.5;IL16,synonymous_variant,p.=,ENST00000558332,;RP11-761I4.4,downstream_gene_variant,,ENST00000607019,;IL16,non_coding_transcript_exon_variant,,ENST00000560230,;IL16,upstream_gene_variant,,ENST00000559342,;IL16,3_prime_UTR_variant,,ENST00000360547,;IL16,3_prime_UTR_variant,,ENST00000560115,;IL16,3_prime_UTR_variant,,ENST00000558857,;							LOW	2583/3999		IL16_HUMAN			Transcript			.	ENSP00000302935		CCDS42069.1			1	
ARMC10	0	LGGM	GRCh37	7	102737761	102737761	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	29	3	.	.	ENST00000323716.3:c.743A>G	p.Asn248Ser	p.N248S	ENST00000323716	NM_031905.4	248	aAt/aGt	0	1	1	UPI0000039E55	0	NA	ENST00000323716		ENSG00000170632	21706		32	2.565		HGNC	p.N189S		ARMC10		SNV							ENST00000428183	protein_coding	getma.org/?cm=var&var=hg19,7,102737761,A,G&fts=all		hmmpanther:PTHR15712:SF19,hmmpanther:PTHR15712,Gene3D:1.25.10.10,Pfam_domain:PF04826,Superfamily_domains:SSF48371		N/S		G	medium	1135/2629		getma.org/?cm=msa&ty=f&p=ARM10_HUMAN&rb=85&re=337&var=N248S	deleterious(0)				YES	ARMC10,missense_variant,p.Asn248Ser,ENST00000323716,NM_031905.4;ARMC10,missense_variant,p.Asn213Ser,ENST00000441711,NM_001161009.2;ARMC10,missense_variant,p.Asn189Ser,ENST00000428183,NM_001161010.2;ARMC10,missense_variant,p.Asn154Ser,ENST00000454559,NM_001161012.2;ARMC10,intron_variant,,ENST00000425331,NM_001161011.2;ARMC10,intron_variant,,ENST00000541300,NM_001161013.2;ARMC10,intron_variant,,ENST00000434153,;ARMC10,intron_variant,,ENST00000431642,;NAPEPLD,downstream_gene_variant,,ENST00000417955,;NAPEPLD,downstream_gene_variant,,ENST00000341533,NM_198990.4,NM_001122838.1;ARMC10,3_prime_UTR_variant,,ENST00000306450,;ARMC10,3_prime_UTR_variant,,ENST00000323735,;ARMC10,non_coding_transcript_exon_variant,,ENST00000479145,;NAPEPLD,downstream_gene_variant,,ENST00000414118,;NAPEPLD,downstream_gene_variant,,ENST00000422589,;							MODERATE	743/1032	N248S	ARM10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000319412		CCDS5728.1			1	
PDGFRA	0	LGGM	GRCh37	4	55141052	55141052	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	47	3	.	.	ENST00000257290.5:c.1698C>A	p.Ser566Arg	p.S566R	ENST00000257290	NM_006206.4	566	agC/agA	0	1	1	UPI0000131793	0	getma.org/pdb.php?prot=PGFRA_HUMAN&from=412&to=592&var=S566R	ENST00000257290		ENSG00000134853	8803		50	2.045		HGNC	p.S566R		PDGFRA		SNV			1				ENST00000509490	protein_coding	getma.org/?cm=var&var=hg19,4,55141052,C,A&fts=all		hmmpanther:PTHR24416:SF52,hmmpanther:PTHR24416,Gene3D:3.30.200.20,PIRSF_domain:PIRSF500950,PIRSF_domain:PIRSF000615,Superfamily_domains:SSF56112		S/R		A	medium	2029/6576		getma.org/?cm=msa&ty=f&p=PGFRA_HUMAN&rb=412&re=592&var=S566R	deleterious(0)	D6RIG5_HUMAN,D6RG11_HUMAN,D6RDX0_HUMAN			YES	PDGFRA,missense_variant,p.Ser566Arg,ENST00000257290,NM_006206.4;FIP1L1,intron_variant,,ENST00000507166,;PDGFRA,missense_variant,p.Ser566Arg,ENST00000509490,;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,;PDGFRA,upstream_gene_variant,,ENST00000507536,;PDGFRA,upstream_gene_variant,,ENST00000461294,;							MODERATE	1698/3270	S566R	PGFRA_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000257290		CCDS3495.1			1	
SLC43A1	0	LGGM	GRCh37	11	57261621	57261621	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	6	4	.	.	ENST00000278426.3:c.716T>A	p.Leu239Gln	p.L239Q	ENST00000278426	NM_003627.5	239	cTg/cAg	0	1	1	UPI0000071F2B	0	NA	ENST00000278426		ENSG00000149150	9225		10	2.135		HGNC	p.L239Q		SLC43A1		SNV							ENST00000528450	protein_coding	getma.org/?cm=var&var=hg19,11,57261621,A,T&fts=all		Pfam_domain:PF07690,hmmpanther:PTHR20766,hmmpanther:PTHR20766:SF0		L/Q		T	medium	1072/2598		getma.org/?cm=msa&ty=f&p=LAT3_HUMAN&rb=70&re=489&var=L239Q	deleterious(0.01)	E9PJT8_HUMAN,B3KNL1_HUMAN			YES	SLC43A1,missense_variant,p.Leu239Gln,ENST00000278426,NM_003627.5;SLC43A1,missense_variant,p.Leu239Gln,ENST00000528450,NM_001198810.1;SLC43A1,missense_variant,p.Leu208Gln,ENST00000533066,;SLC43A1,intron_variant,,ENST00000525764,;SLC43A1,non_coding_transcript_exon_variant,,ENST00000533515,;SLC43A1,synonymous_variant,p.=,ENST00000530159,;SLC43A1,non_coding_transcript_exon_variant,,ENST00000529452,;SLC43A1,intron_variant,,ENST00000534298,;SLC43A1,downstream_gene_variant,,ENST00000524995,;SLC43A1,downstream_gene_variant,,ENST00000534105,;							MODERATE	716/1680	L239Q	LAT3_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000278426		CCDS7958.1			1	
LOXHD1	0	LGGM	GRCh37	18	44152060	44152060	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	5	4	.	.	ENST00000398722.4:c.1202C>T	p.Ala401Val	p.A401V	ENST00000398722		401	gCg/gTg	0	1	1	UPI0001A595CE	0	NA	ENST00000536736		ENSG00000167210	26521		9	1.04		HGNC	p.A679V	rs370779024	LOXHD1		SNV			1				ENST00000441551	protein_coding	getma.org/?cm=var&var=hg19,18,44152060,G,A&fts=all	A:0	hmmpanther:PTHR10877:SF110,hmmpanther:PTHR10877		A/V		A	low	2036/6848	0.000113	getma.org/?cm=msa&ty=f&p=LOXH1_HUMAN&rb=364&re=437&var=A401V	tolerated(0.32)	J3KRE7_HUMAN,F5GZB4_HUMAN,C9J269_HUMAN,C9IYQ1_HUMAN	A:0	A:0		LOXHD1,missense_variant,p.Ala679Val,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Ala679Val,ENST00000441551,;LOXHD1,missense_variant,p.Ala401Val,ENST00000398722,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;		A:0.0002					MODERATE	2036/6636	A401V			A:0.001	Transcript		benign(0.003)	.	ENSP00000444586	3.66E-05			A:0	1	
ZNF862	0	LGGM	GRCh37	7	149558611	149558611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	4	4	.	.	ENST00000223210.4:c.2362C>T	p.Arg788Cys	p.R788C	ENST00000223210	NM_001099220.1	788	Cgc/Tgc	0	1	1	UPI000016105C	0	NA	ENST00000223210		ENSG00000106479	34519		8	0.895		HGNC	p.R788C		ZNF862		SNV							ENST00000223210	protein_coding	getma.org/?cm=var&var=hg19,7,149558611,C,T&fts=all		hmmpanther:PTHR23232,hmmpanther:PTHR23232:SF43,Superfamily_domains:SSF53098		R/C		T	low	2607/6950		getma.org/?cm=msa&ty=f&p=ZN862_HUMAN&rb=774&re=973&var=R788C	deleterious(0)	C9JB70_HUMAN			YES	ZNF862,missense_variant,p.Arg788Cys,ENST00000223210,NM_001099220.1;RP4-751H13.7,non_coding_transcript_exon_variant,,ENST00000608963,;ZNF862,downstream_gene_variant,,ENST00000478024,;							MODERATE	2362/3510	R788C	ZN862_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000223210		CCDS47741.1			1	
PDCD5	0	LGGM	GRCh37	19	33076817	33076817	+	splice_region_variant,intron_variant	Splice_Region	SNP	A	A	C	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	25	4	.	.	ENST00000590247.2:c.258+4A>C		p.X86_splice	ENST00000590247	NM_004708.3			0	1	1	UPI00001313D8	0		ENST00000590247		ENSG00000105185	8764		29			HGNC	p.S88R		PDCD5		SNV							ENST00000419343	protein_coding							C		-/699				K7EQA1_HUMAN			YES	PDCD5,missense_variant,p.Ser88Arg,ENST00000419343,;PDCD5,splice_region_variant,,ENST00000590247,NM_004708.3;PDCD5,splice_region_variant,,ENST00000586035,;PDCD5,intron_variant,,ENST00000592786,;PDCD5,intron_variant,,ENST00000379316,;PDCD5,splice_region_variant,,ENST00000221784,;PDCD5,splice_region_variant,,ENST00000586316,;PDCD5,upstream_gene_variant,,ENST00000588622,;							LOW	-/378		PDCD5_HUMAN			Transcript			.	ENSP00000466214		CCDS12423.1			1	
PKP4	0	LGGM	GRCh37	2	159488417	159488417	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	22	4	.	.	ENST00000389759.3:c.1306C>T	p.Gln436Ter	p.Q436*	ENST00000389759	NM_003628.3	436	Caa/Taa	0	1	1	UPI000044D379	0	NA	ENST00000389759		ENSG00000144283	9026		26	0		HGNC	p.Q436X		PKP4		SNV							ENST00000389759	protein_coding	getma.org/?cm=var&var=hg19,2,159488417,C,T&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8		Q/*		T	NA	1418/4443		NA		Q53TM5_HUMAN			YES	PKP4,stop_gained,p.Gln436Ter,ENST00000389757,NM_001005476.1;PKP4,stop_gained,p.Gln436Ter,ENST00000389759,NM_003628.3;PKP4,upstream_gene_variant,,ENST00000494945,;PKP4,3_prime_UTR_variant,,ENST00000426248,;PKP4,3_prime_UTR_variant,,ENST00000421462,;PKP4,3_prime_UTR_variant,,ENST00000452162,;PKP4,3_prime_UTR_variant,,ENST00000481115,;							HIGH	1306/3579	Q436*	PKP4_HUMAN			Transcript			.	ENSP00000374409		CCDS33305.1			1	
PDCD5	0	LGGM	GRCh37	19	33076805	33076805	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	27	4	.	.	ENST00000590247.2:c.250A>C	p.Ser84Arg	p.S84R	ENST00000590247	NM_004708.3	84	Agt/Cgt	0	1	1	UPI00001313D8	0	getma.org/pdb.php?prot=PDCD5_HUMAN&from=9&to=113&var=S84R	ENST00000590247		ENSG00000105185	8764		31	-0.01		HGNC	p.S84R		PDCD5		SNV							ENST00000590247	protein_coding	getma.org/?cm=var&var=hg19,19,33076805,A,C&fts=all		hmmpanther:PTHR10840,hmmpanther:PTHR10840:SF0,Pfam_domain:PF01984,Gene3D:1eijA00,PIRSF_domain:PIRSF015730,Superfamily_domains:SSF46950		S/R		C	neutral	444/699		getma.org/?cm=msa&ty=f&p=PDCD5_HUMAN&rb=9&re=113&var=S84R	tolerated(0.62)	K7EQA1_HUMAN			YES	PDCD5,missense_variant,p.Ser84Arg,ENST00000419343,;PDCD5,missense_variant,p.Ser84Arg,ENST00000590247,NM_004708.3;PDCD5,missense_variant,p.Ser46Arg,ENST00000586035,;PDCD5,intron_variant,,ENST00000592786,;PDCD5,intron_variant,,ENST00000379316,;PDCD5,3_prime_UTR_variant,,ENST00000221784,;PDCD5,non_coding_transcript_exon_variant,,ENST00000586316,;PDCD5,upstream_gene_variant,,ENST00000588622,;							MODERATE	250/378	S84R	PDCD5_HUMAN			Transcript		benign(0.197)	.	ENSP00000466214		CCDS12423.1			1	
FANCL	0	LGGM	GRCh37	2	58468417	58468417	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	13	4	.	.	ENST00000402135.3:c.32A>G	p.Gln11Arg	p.Q11R	ENST00000402135	NM_001114636.1	11	cAg/cGg	0	1		UPI000013C98C	0	NA	ENST00000233741		ENSG00000115392	20748		17	2.08		HGNC	p.Q11R	rs762613868	FANCL	6.08E-05	SNV			1				ENST00000403295	protein_coding	getma.org/?cm=var&var=hg19,2,58468417,T,C&fts=all		Pfam_domain:PF09765,hmmpanther:PTHR13206,hmmpanther:PTHR13206:SF0		Q/R		C	medium	69/1683		getma.org/?cm=msa&ty=f&p=FANCL_HUMAN&rb=8&re=295&var=Q11R	tolerated(0.18)					FANCL,missense_variant,p.Gln11Arg,ENST00000402135,NM_001114636.1;FANCL,missense_variant,p.Gln11Arg,ENST00000233741,NM_018062.3;FANCL,missense_variant,p.Gln11Arg,ENST00000403295,;FANCL,missense_variant,p.Gln11Arg,ENST00000449070,;FANCL,missense_variant,p.Gln11Arg,ENST00000540646,;FANCL,missense_variant,p.Gln11Arg,ENST00000427708,;FANCL,missense_variant,p.Gln11Arg,ENST00000446381,;FANCL,5_prime_UTR_variant,,ENST00000403676,;FANCL,5_prime_UTR_variant,,ENST00000417361,;RP11-334G22.1,upstream_gene_variant,,ENST00000608934,;							MODERATE	32/1128	Q11R	FANCL_HUMAN			Transcript		possibly_damaging(0.672)	.	ENSP00000233741	8.24E-06	CCDS1860.1			1	
MAN2B2	0	LGGM	GRCh37	4	6588865	6588865	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	16	5	.	.	ENST00000285599.3:c.534C>A	p.Tyr178Ter	p.Y178*	ENST00000285599	NM_015274.1	178	taC/taA	0	1	1	UPI000004BF05	0	NA	ENST00000285599		ENSG00000013288	29623		21	0		HGNC	p.Y178X		MAN2B2		SNV							ENST00000504248	protein_coding	getma.org/?cm=var&var=hg19,4,6588865,C,A&fts=all		Gene3D:3.20.110.10,Pfam_domain:PF01074,hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF5,Superfamily_domains:SSF88713		Y/*		A	NA	570/5143		NA		Q05BN7_HUMAN,B3KQN1_HUMAN			YES	MAN2B2,stop_gained,p.Tyr177Ter,ENST00000505907,;MAN2B2,stop_gained,p.Tyr178Ter,ENST00000285599,NM_015274.1;MAN2B2,stop_gained,p.Tyr178Ter,ENST00000504248,;							HIGH	534/3030	Y178*	MA2B2_HUMAN			Transcript			.	ENSP00000285599		CCDS33951.1			1	
COL4A3BP	0	LGGM	GRCh37	5	74706902	74706902	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	3	6	.	.	ENST00000380494.5:c.1248G>A	p.Glu416=	p.E416=	ENST00000380494	NM_001130105.1	416	gaG/gaA	0	1		UPI0000126C1D	0		ENST00000405807		ENSG00000113163	2205		9			HGNC	p.E416E		COL4A3BP		SNV			1				ENST00000380494	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10219:SF31,hmmpanther:PTHR10219		E		T		1286/2843								COL4A3BP,synonymous_variant,p.=,ENST00000380494,NM_001130105.1;COL4A3BP,synonymous_variant,p.=,ENST00000405807,NM_005713.2;COL4A3BP,synonymous_variant,p.=,ENST00000261415,NM_031361.2;							LOW	864/1875		C43BP_HUMAN			Transcript			.	ENSP00000383996		CCDS4028.1			1	
TMTC2	0	LGGM	GRCh37	12	83526056	83526056	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	25	7	.	.	ENST00000321196.3:c.2399C>A	p.Ala800Asp	p.A800D	ENST00000321196	NM_152588.1	800	gCc/gAc	0	1	1	UPI0000073F0F	0	getma.org/pdb.php?prot=TMTC2_HUMAN&from=744&to=819&var=A800D	ENST00000321196		ENSG00000179104	25440		32	1.8		HGNC	p.A800D		TMTC2		SNV							ENST00000321196	protein_coding	getma.org/?cm=var&var=hg19,12,83526056,C,A&fts=all		PROSITE_profiles:PS50293,PROSITE_profiles:PS50005,hmmpanther:PTHR23083:SF390,hmmpanther:PTHR23083,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		A/D		A	low	3106/5681		getma.org/?cm=msa&ty=f&p=TMTC2_HUMAN&rb=744&re=819&var=A800D	tolerated(0.17)				YES	TMTC2,missense_variant,p.Ala794Asp,ENST00000549919,;TMTC2,missense_variant,p.Ala800Asp,ENST00000321196,NM_152588.1;TMTC2,3_prime_UTR_variant,,ENST00000546590,;							MODERATE	2399/2511	A800D	TMTC2_HUMAN			Transcript		benign(0.043)	.	ENSP00000322300		CCDS9025.1			1	
NTRK3	0	LGGM	GRCh37	15	88476333	88476333	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	14	7	.	.	ENST00000360948.2:c.1799T>A	p.Ile600Asn	p.I600N	ENST00000360948	NM_001012338.2	600	aTt/aAt	0	1	1	UPI000006DC82	0	getma.org/pdb.php?prot=NTRK3_HUMAN&from=538&to=824&var=I600N	ENST00000360948		ENSG00000140538	8033		21	3.8		HGNC	p.I600N		NTRK3		SNV			1				ENST00000360948	protein_coding	getma.org/?cm=var&var=hg19,15,88476333,A,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF66,SMART_domains:SM00219,Superfamily_domains:SSF56112		I/N		T	high	1961/2826		getma.org/?cm=msa&ty=f&p=NTRK3_HUMAN&rb=538&re=824&var=I600N	deleterious(0)	R4GNH5_HUMAN			YES	NTRK3,missense_variant,p.Ile600Asn,ENST00000394480,NM_002530.3,NM_001243101.1;NTRK3,missense_variant,p.Ile600Asn,ENST00000360948,NM_001012338.2;NTRK3,missense_variant,p.Ile592Asn,ENST00000357724,;NTRK3,missense_variant,p.Ile600Asn,ENST00000355254,;NTRK3,missense_variant,p.Ile592Asn,ENST00000557856,;NTRK3,missense_variant,p.Ile592Asn,ENST00000558676,;NTRK3,missense_variant,p.Ile502Asn,ENST00000542733,;NTRK3,upstream_gene_variant,,ENST00000558576,;NTRK3,non_coding_transcript_exon_variant,,ENST00000559680,;							MODERATE	1799/2520	I600N	NTRK3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354207		CCDS32322.1			1	
DLG5	0	LGGM	GRCh37	10	79579185	79579185	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	4	7	.	.	ENST00000372391.2:c.3565A>G	p.Ser1189Gly	p.S1189G	ENST00000372391	NM_004747.3	1189	Agc/Ggc	0	1	1	UPI0000470041	0	NA	ENST00000372391		ENSG00000151208	2904		11	0.69		HGNC	p.S150G		DLG5		SNV							ENST00000424842	protein_coding	getma.org/?cm=var&var=hg19,10,79579185,T,C&fts=all		hmmpanther:PTHR13865		S/G		C	neutral	3571/7415		getma.org/?cm=msa&ty=f&p=DLG5_HUMAN&rb=1184&re=1349&var=S1189G	tolerated(0.08)				YES	DLG5,missense_variant,p.Ser1189Gly,ENST00000372391,NM_004747.3;DLG5,missense_variant,p.Ser849Gly,ENST00000372388,;DLG5,missense_variant,p.Ser150Gly,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,;							MODERATE	3565/5760	S1189G	DLG5_HUMAN			Transcript		benign(0)	.	ENSP00000361467		CCDS7353.2			1	
SCAF8	0	LGGM	GRCh37	6	155139646	155139646	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	9	7	.	.	ENST00000367178.3:c.1555A>T	p.Met519Leu	p.M519L	ENST00000367178	NM_014892.3	519	Atg/Ttg	0	1	1	UPI0000070A1C	0	getma.org/pdb.php?prot=SCAF8_HUMAN&from=479&to=545&var=M519L	ENST00000367178		ENSG00000213079	20959		16	2.115		HGNC	p.M585L		SCAF8		SNV							ENST00000367186	protein_coding	getma.org/?cm=var&var=hg19,6,155139646,A,T&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR14124:SF4,hmmpanther:PTHR14124,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		M/L		T	medium	2131/5055		getma.org/?cm=msa&ty=f&p=SCAF8_HUMAN&rb=479&re=545&var=M519L	deleterious(0.01)	Q9H8B2_HUMAN,Q8NDE9_HUMAN			YES	SCAF8,missense_variant,p.Met519Leu,ENST00000367178,NM_014892.3,NM_001286194.1;SCAF8,missense_variant,p.Met519Leu,ENST00000417268,NM_001286188.1,NM_001286199.1;SCAF8,missense_variant,p.Met585Leu,ENST00000367186,NM_001286189.1;SCAF8,upstream_gene_variant,,ENST00000479234,;							MODERATE	1555/3816	M519L	SCAF8_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000356146		CCDS5247.1			1	
NUP188	0	LGGM	GRCh37	9	131755679	131755679	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	11	8	.	.	ENST00000372577.2:c.2844A>C	p.Ser948=	p.S948=	ENST00000372577	NM_015354.2	948	tcA/tcC	0	1	1	UPI000041A60F	0		ENST00000372577		ENSG00000095319	17859		19			HGNC	p.S948S		NUP188		SNV							ENST00000372577	protein_coding			hmmpanther:PTHR31431,hmmpanther:PTHR31431:SF1,Superfamily_domains:SSF48371		S		C		2865/5689							YES	NUP188,synonymous_variant,p.=,ENST00000372577,NM_015354.2;NUP188,non_coding_transcript_exon_variant,,ENST00000467044,;NUP188,downstream_gene_variant,,ENST00000491502,;NUP188,non_coding_transcript_exon_variant,,ENST00000477069,;NUP188,upstream_gene_variant,,ENST00000495726,;NUP188,upstream_gene_variant,,ENST00000485158,;							LOW	2844/5250		NU188_HUMAN			Transcript			.	ENSP00000361658		CCDS35156.1			1	
GPR98	0	LGGM	GRCh37	5	89939656	89939656	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	7	8	.	.	ENST00000405460.2:c.2590G>A	p.Gly864Arg	p.G864R	ENST00000405460	NM_032119.3	864	Gga/Aga	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		15	1.735		HGNC	p.G864R	rs572283380	GPR98	0.000249	SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89939656,G,A&fts=all	A:0	hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,Superfamily_domains:SSF141072		G/R		A	low	2686/19338	8.79E-05	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=838&re=992&var=G864R			A:0	A:0	YES	GPR98,missense_variant,p.Gly864Arg,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Gly453Arg,ENST00000504142,;GPR98,non_coding_transcript_exon_variant,,ENST00000512205,;		A:0.0002					MODERATE	2590/18921	G864R	GPR98_HUMAN		A:0	Transcript		probably_damaging(0.98)	.	ENSP00000384582	5.79E-05	CCDS47246.1		A:0.001	1	
TP53	0	LGGM	GRCh37	17	7578280	7578280	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	5	8	.	.	ENST00000269305.4:c.569C>T	p.Pro190Leu	p.P190L	ENST00000269305	NM_001126112.2	190	cCt/cTt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=P190L	ENST00000269305		ENSG00000141510	11998		13	2.085		HGNC	p.P190L	TP53_g.12638C>T,COSM43657,COSM1386772,COSM1386773,COSM1386775,COSM3356968,COSM2152692,COSM1386774	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7578280,G,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		P/L		A	medium	759/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=P190L	deleterious(0.05)	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			YES	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,;					0,1,1,1,1,1,1,1		MODERATE	569/1182	P190L	P53_HUMAN			Transcript		possibly_damaging(0.812)	.	ENSP00000269305		CCDS11118.1			1	
DOCK8	0	LGGM	GRCh37	9	286527	286527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	3	8	.	.	ENST00000453981.1:c.223C>A	p.Leu75Met	p.L75M	ENST00000453981		75	Ctg/Atg	0	1		UPI000034ECCE	0	NA	ENST00000432829		ENSG00000107099	19191		11	1.7		HGNC	p.L7M		DOCK8		SNV			1				ENST00000469391	protein_coding	getma.org/?cm=var&var=hg19,9,286527,C,A&fts=all		hmmpanther:PTHR23317:SF74,hmmpanther:PTHR23317,Pfam_domain:PF11878		L/M		A	low	335/7452		getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=69&re=164&var=L75M	tolerated(0.2)	E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				DOCK8,missense_variant,p.Leu7Met,ENST00000432829,NM_203447.3;DOCK8,missense_variant,p.Leu75Met,ENST00000453981,;DOCK8,missense_variant,p.Leu7Met,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,missense_variant,p.Leu7Met,ENST00000479404,;DOCK8,missense_variant,p.Leu7Met,ENST00000487230,;DOCK8,missense_variant,p.Leu7Met,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,;							MODERATE	19/6096	L75M	DOCK8_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000394888		CCDS55283.1			1	
OMG	0	LGGM	GRCh37	17	29622466	29622466	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	31	9	.	.	ENST00000247271.4:c.884T>C	p.Val295Ala	p.V295A	ENST00000247271	NM_002544.4	295	gTa/gCa	0	1	1	UPI0000130CE1	0	NA	ENST00000247271		ENSG00000126861	8135		40	0.345		HGNC	p.V295A		OMG		SNV							ENST00000247271	protein_coding	getma.org/?cm=var&var=hg19,17,29622466,A,G&fts=all		hmmpanther:PTHR24371,hmmpanther:PTHR24371:SF52		V/A		G	neutral	1146/1947		getma.org/?cm=msa&ty=f&p=OMGP_HUMAN&rb=248&re=438&var=V295A	tolerated(1)				YES	OMG,missense_variant,p.Val295Ala,ENST00000247271,NM_002544.4;NF1,intron_variant,,ENST00000358273,NM_001042492.2;NF1,intron_variant,,ENST00000356175,NM_000267.3;NF1,intron_variant,,ENST00000456735,;OMG,intron_variant,,ENST00000580156,;OMG,non_coding_transcript_exon_variant,,ENST00000582029,;NF1,intron_variant,,ENST00000579081,;NF1,intron_variant,,ENST00000493220,;							MODERATE	884/1323	V295A	OMGP_HUMAN			Transcript		benign(0.001)	.	ENSP00000247271		CCDS11265.1			1	
FSIP2	0	LGGM	GRCh37	2	186670035	186670035	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	15	9	.	.	ENST00000343098.5:c.16269T>C	p.Ala5423=	p.A5423=	ENST00000343098	NM_173651.2	5423	gcT/gcC	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		24			HGNC	p.A5423A		FSIP2		SNV							ENST00000343098	protein_coding			hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		A		C		16002/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;							LOW	16002/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306					1	
USP37	0	LGGM	GRCh37	2	219339532	219339532	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	17	9	.	.	ENST00000258399.3:c.2120A>G	p.Glu707Gly	p.E707G	ENST00000258399	NM_020935.2	707	gAg/gGg	0	1	1	UPI0000160023	0	NA	ENST00000258399		ENSG00000135913	20063		26	2.175		HGNC	p.E707G		USP37		SNV							ENST00000454775	protein_coding	getma.org/?cm=var&var=hg19,2,219339532,T,C&fts=all		Pfam_domain:PF00443,Pfam_domain:PF02809,PROSITE_profiles:PS50235,PROSITE_profiles:PS50330,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF125,SMART_domains:SM00726		E/G		C	medium	2533/8032		getma.org/?cm=msa&ty=f&p=UBP37_HUMAN&rb=683&re=740&var=E707G	deleterious(0.01)				YES	USP37,missense_variant,p.Glu707Gly,ENST00000258399,NM_020935.2;USP37,missense_variant,p.Glu707Gly,ENST00000454775,;USP37,missense_variant,p.Glu613Gly,ENST00000415516,;USP37,missense_variant,p.Glu707Gly,ENST00000418019,;USP37,non_coding_transcript_exon_variant,,ENST00000473554,;USP37,non_coding_transcript_exon_variant,,ENST00000484018,;USP37,downstream_gene_variant,,ENST00000475553,;							MODERATE	2120/2940	E707G	UBP37_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000258399		CCDS2418.1			1	
PLCL1	0	LGGM	GRCh37	2	198950876	198950876	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	25	10	.	.	ENST00000428675.1:c.2635G>A	p.Gly879Ser	p.G879S	ENST00000428675	NM_006226.3	879	Ggt/Agt	0	1	1	UPI000165BCF5	0	NA	ENST00000428675		ENSG00000115896	9063		35	2.39		HGNC	p.G805S		PLCL1		SNV							ENST00000487695	protein_coding	getma.org/?cm=var&var=hg19,2,198950876,G,A&fts=all		hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336		G/S		A	medium	3033/5125		getma.org/?cm=msa&ty=f&p=PLCL1_HUMAN&rb=814&re=1013&var=G879S	tolerated(0.05)				YES	PLCL1,missense_variant,p.Gly879Ser,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Gly781Ser,ENST00000437704,;PLCL1,missense_variant,p.Gly805Ser,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;							MODERATE	2635/3288	G879S	PLCL1_HUMAN			Transcript		benign(0.201)	.	ENSP00000402861		CCDS2326.2			1	
FUBP1	0	LGGM	GRCh37	1	78414910	78414910	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	26	10	.	.	ENST00000370768.2:c.1856A>G	p.Tyr619Cys	p.Y619C	ENST00000370768	NM_003902.3	619	tAt/tGt	0	1	1	UPI0000070218	0	NA	ENST00000370768		ENSG00000162613	4004		36	2.215		HGNC	p.Y640C		FUBP1		SNV							ENST00000436586	protein_coding	getma.org/?cm=var&var=hg19,1,78414910,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10288:SF99,hmmpanther:PTHR10288,Pfam_domain:PF09005		Y/C		C	medium	1938/2378		getma.org/?cm=msa&ty=f&p=FUBP1_HUMAN&rb=601&re=633&var=Y619C	deleterious(0)				YES	FUBP1,missense_variant,p.Tyr619Cys,ENST00000370767,;FUBP1,missense_variant,p.Tyr619Cys,ENST00000370768,NM_003902.3;FUBP1,missense_variant,p.Tyr640Cys,ENST00000436586,;FUBP1,non_coding_transcript_exon_variant,,ENST00000492405,;FUBP1,non_coding_transcript_exon_variant,,ENST00000488814,;FUBP1,non_coding_transcript_exon_variant,,ENST00000492724,;FUBP1,non_coding_transcript_exon_variant,,ENST00000487684,;FUBP1,upstream_gene_variant,,ENST00000489495,;FUBP1,upstream_gene_variant,,ENST00000474632,;FUBP1,upstream_gene_variant,,ENST00000483894,;FUBP1,upstream_gene_variant,,ENST00000480673,;FUBP1,missense_variant,p.Tyr618Cys,ENST00000294623,;							MODERATE	1856/1935	Y619C	FUBP1_HUMAN			Transcript		unknown(0)	.	ENSP00000359804		CCDS683.1			1	
ICAM1	0	LGGM	GRCh37	19	10395606	10395606	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	8	10	.	.	ENST00000264832.3:c.1328A>T	p.Glu443Val	p.E443V	ENST00000264832	NM_000201.2	443	gAa/gTa	0	1	1	UPI000000D91C	0	getma.org/pdb.php?prot=ICAM1_HUMAN&from=405&to=474&var=E443V	ENST00000264832		ENSG00000090339	5344		18	-0.37		HGNC	p.E221V		ICAM1		SNV			1				ENST00000423829	protein_coding	getma.org/?cm=var&var=hg19,19,10395606,A,T&fts=all		hmmpanther:PTHR13771,hmmpanther:PTHR13771:SF5,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/V		T	neutral	1653/3252		getma.org/?cm=msa&ty=f&p=ICAM1_HUMAN&rb=405&re=474&var=E443V	tolerated(0.32)	B4DNT6_HUMAN			YES	ICAM1,missense_variant,p.Glu443Val,ENST00000264832,NM_000201.2;ICAM1,missense_variant,p.Glu221Val,ENST00000423829,;ICAM4,upstream_gene_variant,,ENST00000393717,NM_022377.3;ICAM4,upstream_gene_variant,,ENST00000380770,NM_001544.4;ICAM4,upstream_gene_variant,,ENST00000340992,NM_001039132.2;ICAM1,downstream_gene_variant,,ENST00000588645,;CTD-2369P2.5,intron_variant,,ENST00000592893,;CTD-2369P2.8,downstream_gene_variant,,ENST00000589379,;ICAM1,downstream_gene_variant,,ENST00000585443,;ICAM1,downstream_gene_variant,,ENST00000592686,;							MODERATE	1328/1599	E443V	ICAM1_HUMAN			Transcript		benign(0.006)	.	ENSP00000264832		CCDS12231.1			1	
NIPBL	0	LGGM	GRCh37	5	37064823	37064823	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	32	10	.	.	ENST00000282516.8:c.8244G>C	p.Trp2748Cys	p.W2748C	ENST00000282516	NM_133433.3	2748	tgG/tgC	0	1	1	UPI00003761B5	0	NA	ENST00000282516		ENSG00000164190	28862		42	0.805		HGNC	p.W2748C		NIPBL		SNV			1				ENST00000282516	protein_coding	getma.org/?cm=var&var=hg19,5,37064823,G,C&fts=all		hmmpanther:PTHR21704,hmmpanther:PTHR21704:SF18		W/C		C	low	8743/10435		getma.org/?cm=msa&ty=f&p=NIPBL_HUMAN&rb=2658&re=2804&var=W2748C	deleterious_low_confidence(0)	A2RRA7_HUMAN			YES	NIPBL,missense_variant,p.Trp2748Cys,ENST00000282516,NM_133433.3,NM_015384.4;NIPBL,downstream_gene_variant,,ENST00000448238,;NIPBL,downstream_gene_variant,,ENST00000513819,;NIPBL,non_coding_transcript_exon_variant,,ENST00000514335,;							MODERATE	8244/8415	W2748C	NIPBL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000282516		CCDS3920.1			1	
KDM4B	0	LGGM	GRCh37	19	5032947	5032947	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	34	12	.	.	ENST00000159111.4:c.46A>G	p.Met16Val	p.M16V	ENST00000159111	NM_015015.2	16	Atg/Gtg	0	1	1	UPI00001C202B	0	getma.org/pdb.php?prot=KDM4B_HUMAN&from=16&to=50&var=M16V	ENST00000159111		ENSG00000127663	29136		46	3.205		HGNC	p.M16V	rs747267698	KDM4B		SNV							ENST00000536461	protein_coding	getma.org/?cm=var&var=hg19,19,5032947,A,G&fts=all		Pfam_domain:PF02375,PROSITE_profiles:PS51183,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF30,SMART_domains:SM00545		M/V		G	medium	264/5593	1.50E-05	getma.org/?cm=msa&ty=f&p=KDM4B_HUMAN&rb=16&re=50&var=M16V		K7ES23_HUMAN			YES	KDM4B,missense_variant,p.Met16Val,ENST00000159111,NM_015015.2;KDM4B,missense_variant,p.Met16Val,ENST00000536461,;KDM4B,missense_variant,p.Met16Val,ENST00000381759,;KDM4B,missense_variant,p.Met16Val,ENST00000588337,;							MODERATE	46/3291	M16V	KDM4B_HUMAN			Transcript		possibly_damaging(0.818)	.	ENSP00000159111	8.24E-06	CCDS12138.1			1	
COL14A1	0	LGGM	GRCh37	8	121239463	121239463	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	9	12	.	.	ENST00000297848.3:c.2009T>C	p.Val670Ala	p.V670A	ENST00000297848	NM_021110.2	670	gTc/gCc	0	1	1	UPI000046D377	0	getma.org/pdb.php?prot=COEA1_HUMAN&from=625&to=704&var=V670A	ENST00000297848		ENSG00000187955	2191		21	2.165		HGNC	p.V483A	COSM486025	COL14A1		SNV			1			1	ENST00000434620	protein_coding	getma.org/?cm=var&var=hg19,8,121239463,T,C&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR22992:SF89,hmmpanther:PTHR22992,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		V/A		C	medium	2279/6466		getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=625&re=704&var=V670A	tolerated(0.09)				YES	COL14A1,missense_variant,p.Val670Ala,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Val575Ala,ENST00000247781,;COL14A1,missense_variant,p.Val670Ala,ENST00000309791,;COL14A1,missense_variant,p.Val483Ala,ENST00000434620,;COL14A1,3_prime_UTR_variant,,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,3_prime_UTR_variant,,ENST00000498051,;					1		MODERATE	2009/5391	V670A	COEA1_HUMAN			Transcript		benign(0.007)	.	ENSP00000297848		CCDS34938.1			1	
PTCD3	0	LGGM	GRCh37	2	86362084	86362084	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	54	12	.	.	ENST00000254630.7:c.1752A>C	p.Leu584Phe	p.L584F	ENST00000254630	NM_017952.5	584	ttA/ttC	0	1	1	UPI0000208870	0	NA	ENST00000254630		ENSG00000132300	24717		66	2.565		HGNC	p.L584F		PTCD3		SNV							ENST00000254630	protein_coding	getma.org/?cm=var&var=hg19,2,86362084,A,C&fts=all		PROSITE_profiles:PS51375,hmmpanther:PTHR16276,hmmpanther:PTHR16276:SF0		L/F		C	medium	1818/6734		getma.org/?cm=msa&ty=f&p=PTCD3_HUMAN&rb=568&re=689&var=L584F	deleterious(0.04)				YES	PTCD3,missense_variant,p.Leu584Phe,ENST00000254630,NM_017952.5;SNORD94,upstream_gene_variant,,ENST00000386037,NR_004378.1;PTCD3,non_coding_transcript_exon_variant,,ENST00000477520,;PTCD3,downstream_gene_variant,,ENST00000494323,;PTCD3,non_coding_transcript_exon_variant,,ENST00000487043,;PTCD3,non_coding_transcript_exon_variant,,ENST00000469585,;PTCD3,non_coding_transcript_exon_variant,,ENST00000467273,;PTCD3,downstream_gene_variant,,ENST00000464541,;PTCD3,downstream_gene_variant,,ENST00000493430,;PTCD3,downstream_gene_variant,,ENST00000476215,;PTCD3,downstream_gene_variant,,ENST00000472044,;							MODERATE	1752/2070	L584F	PTCD3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000254630		CCDS33235.1			1	
IGKV6D-41	0	LGGM	GRCh37	2	90109059	90109059	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	16	12	.	.	ENST00000390271.2:c.324T>C	p.Cys108=	p.C108=	ENST00000390271		108	tgT/tgC	0	1	1	UPI0000116D04	0		ENST00000390271		ENSG00000211626	5838		28			HGNC	p.C108C		IGKV6D-41		SNV							ENST00000390271	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00409,SMART_domains:SM00406,Pfam_domain:PF07686,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146,PROSITE_profiles:PS50835		C		C		350/371							YES	IGKV6D-41,synonymous_variant,p.=,ENST00000390271,;							LOW	324/345					Transcript			.	ENSP00000374806					1	
XIRP2	0	LGGM	GRCh37	2	168104124	168104124	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	25	13	.	.	ENST00000409195.1:c.6222T>A	p.Leu2074=	p.L2074=	ENST00000409195	NM_152381.5	2074	ctT/ctA	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		38			HGNC	p.L1852L		XIRP2		SNV							ENST00000409273	protein_coding			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		L		A		6311/12675				J3KNB1_HUMAN			YES	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;							LOW	6222/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
FAP	0	LGGM	GRCh37	2	163072437	163072437	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	5	13	.	.	ENST00000188790.4:c.837A>G	p.Glu279=	p.E279=	ENST00000188790	NM_004460.2	279	gaA/gaG	0	1	1	UPI00000012A2	0		ENST00000188790		ENSG00000078098	3590		18			HGNC	p.E279E		FAP		SNV							ENST00000188790	protein_coding			Gene3D:2.140.10.30,Pfam_domain:PF00930,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111,Superfamily_domains:SSF82171		E		C		1045/2780				C9J131_HUMAN			YES	FAP,synonymous_variant,p.=,ENST00000188790,NM_004460.2;FAP,synonymous_variant,p.=,ENST00000443424,;FAP,downstream_gene_variant,,ENST00000447386,;FAP,non_coding_transcript_exon_variant,,ENST00000480838,;FAP,downstream_gene_variant,,ENST00000450031,;							LOW	837/2283		SEPR_HUMAN			Transcript			.	ENSP00000188790		CCDS33311.1			1	
LAMA1	0	LGGM	GRCh37	18	6961753	6961753	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	4	14	.	.	ENST00000389658.3:c.7458C>A	p.Ile2486=	p.I2486=	ENST00000389658	NM_005559.3	2486	atC/atA	0	1	1	UPI00001C1FF9	0		ENST00000389658		ENSG00000101680	6481		18			HGNC	p.I2486I		LAMA1		SNV			1				ENST00000389658	protein_coding			Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,Superfamily_domains:SSF49899		I		T		7552/9657				Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,synonymous_variant,p.=,ENST00000389658,NM_005559.3;RP11-781P6.1,downstream_gene_variant,,ENST00000584722,;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;LAMA1,intron_variant,,ENST00000488064,;LAMA1,upstream_gene_variant,,ENST00000488089,;LAMA1,downstream_gene_variant,,ENST00000490190,;LAMA1,downstream_gene_variant,,ENST00000484335,;							LOW	7458/9228		LAMA1_HUMAN			Transcript			.	ENSP00000374309		CCDS32787.1			1	
RAD54B	0	LGGM	GRCh37	8	95392407	95392407	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	19	14	.	.	ENST00000336148.5:c.2213A>G	p.Tyr738Cys	p.Y738C	ENST00000336148	NM_012415.3	738	tAt/tGt	0	1	1	UPI0000070088	0	getma.org/pdb.php?prot=RA54B_HUMAN&from=678&to=758&var=Y738C	ENST00000336148		ENSG00000197275	17228		33	2.46		HGNC	p.Y738C	rs779107055,COSM198795	RAD54B		SNV						0,1	ENST00000336148	protein_coding	getma.org/?cm=var&var=hg19,8,95392407,T,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00490,Pfam_domain:PF00271,Gene3D:3.40.50.300,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568,PROSITE_profiles:PS51194		Y/C		C	medium	2338/3068	1.50E-05	getma.org/?cm=msa&ty=f&p=RA54B_HUMAN&rb=678&re=758&var=Y738C	deleterious(0)	E5RHN9_HUMAN			YES	RAD54B,missense_variant,p.Tyr738Cys,ENST00000336148,NM_012415.3;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,downstream_gene_variant,,ENST00000518358,;					0,1		MODERATE	2213/2733	Y738C	RA54B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000336606	8.24E-06	CCDS6262.1			1	
FAT3	0	LGGM	GRCh37	11	92532934	92532934	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	71	14	.	.	ENST00000298047.6:c.6755C>A	p.Ser2252Tyr	p.S2252Y	ENST00000298047		2252	tCt/tAt	0	1	1	UPI000050B6C6	0	getma.org/pdb.php?prot=FAT3_HUMAN&from=2191&to=2278&var=S2252Y	ENST00000298047		ENSG00000165323	23112		85	2.975		HGNC	p.S2102Y		FAT3		SNV							ENST00000525166	protein_coding	getma.org/?cm=var&var=hg19,11,92532934,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF33,SMART_domains:SM00112,Superfamily_domains:SSF49313		S/Y		A	medium	6772/19126		getma.org/?cm=msa&ty=f&p=FAT3_HUMAN&rb=2191&re=2278&var=S2252Y		E9PQ73_HUMAN			YES	FAT3,missense_variant,p.Ser2252Tyr,ENST00000298047,;FAT3,missense_variant,p.Ser2252Tyr,ENST00000409404,NM_001008781.2;FAT3,missense_variant,p.Ser2102Tyr,ENST00000525166,;							MODERATE	6755/13770	S2252Y	FAT3_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000298047					1	
EDRF1	0	LGGM	GRCh37	10	127438112	127438112	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	20	14	.	.	ENST00000356792.4:c.3255A>G	p.Ala1085=	p.A1085=	ENST00000356792	NM_001202438.1	1085	gcA/gcG	0	1	1	UPI00005CA2E3	0		ENST00000356792		ENSG00000107938	24640		34			HGNC	p.A1085A		EDRF1		SNV							ENST00000356792	protein_coding			hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000		A		G		3487/4128							YES	EDRF1,synonymous_variant,p.=,ENST00000337623,NM_015608.2;EDRF1,synonymous_variant,p.=,ENST00000356792,NM_001202438.1;EDRF1-AS1,intron_variant,,ENST00000601363,;EDRF1-AS1,intron_variant,,ENST00000593871,;EDRF1-AS1,intron_variant,,ENST00000602030,;EDRF1-AS1,intron_variant,,ENST00000449436,;EDRF1-AS1,intron_variant,,ENST00000600784,;EDRF1-AS1,intron_variant,,ENST00000594025,;EDRF1,3_prime_UTR_variant,,ENST00000419769,;EDRF1,3_prime_UTR_variant,,ENST00000481600,;EDRF1,3_prime_UTR_variant,,ENST00000368815,;EDRF1,non_coding_transcript_exon_variant,,ENST00000368812,;EDRF1,non_coding_transcript_exon_variant,,ENST00000527655,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525524,;EDRF1,downstream_gene_variant,,ENST00000525091,;EDRF1,downstream_gene_variant,,ENST00000469725,;EDRF1,upstream_gene_variant,,ENST00000525358,;							LOW	3255/3717		EDRF1_HUMAN			Transcript			.	ENSP00000349244		CCDS55733.1			1	
HECTD1	0	LGGM	GRCh37	14	31574841	31574841	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	6	15	.	.	ENST00000399332.1:c.7260A>G	p.Ile2420Met	p.I2420M	ENST00000399332	NM_015382.2	2420	atA/atG	0	1	1	UPI0000E8AC98	0	getma.org/pdb.php?prot=HECD1_HUMAN&from=2179&to=2610&var=I2420M	ENST00000399332		ENSG00000092148	20157		21	0.895		HGNC	p.I2420M		HECTD1		SNV							ENST00000399332	protein_coding	getma.org/?cm=var&var=hg19,14,31574841,T,C&fts=all		Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,Gene3D:1c4zA02,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF75,PROSITE_profiles:PS50237		I/M		C	low	7749/9134		getma.org/?cm=msa&ty=f&p=HECD1_HUMAN&rb=2179&re=2610&var=I2420M	deleterious(0.01)	G3V4V5_HUMAN			YES	HECTD1,missense_variant,p.Ile2420Met,ENST00000399332,NM_015382.2;HECTD1,missense_variant,p.Ile2420Met,ENST00000553700,;HECTD1,missense_variant,p.Ile786Met,ENST00000554882,;HECTD1,non_coding_transcript_exon_variant,,ENST00000555843,;HECTD1,upstream_gene_variant,,ENST00000556281,;HECTD1,upstream_gene_variant,,ENST00000557695,;HECTD1,downstream_gene_variant,,ENST00000555311,;							MODERATE	7260/7833	I2420M	HECD1_HUMAN			Transcript		benign(0.31)	.	ENSP00000382269		CCDS41939.1			1	
SMARCC2	0	LGGM	GRCh37	12	56566275	56566275	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	18	16	.	.	ENST00000267064.4:c.1771-1G>A		p.X591_splice	ENST00000267064	NM_003075.3			0	1	1	UPI0000071C4E	0		ENST00000267064		ENSG00000139613	11105		34			HGNC	-		SMARCC2		SNV							ENST00000394023	protein_coding							T		-/4076				F8VZW6_HUMAN			YES	SMARCC2,splice_acceptor_variant,,ENST00000394023,NM_001130420.1;SMARCC2,splice_acceptor_variant,,ENST00000550164,;SMARCC2,splice_acceptor_variant,,ENST00000267064,NM_003075.3;SMARCC2,splice_acceptor_variant,,ENST00000347471,NM_139067.2;RP11-977G19.5,intron_variant,,ENST00000553176,;SMARCC2,splice_acceptor_variant,,ENST00000549209,;SMARCC2,splice_acceptor_variant,,ENST00000552674,;SMARCC2,splice_acceptor_variant,,ENST00000548130,;SMARCC2,splice_acceptor_variant,,ENST00000552931,;SMARCC2,downstream_gene_variant,,ENST00000552566,;							HIGH	1771/3645		SMRC2_HUMAN			Transcript			.	ENSP00000267064		CCDS8907.1			1	
IGF1	0	LGGM	GRCh37	12	102874134	102874134	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	24	16	.	.	ENST00000307046.8:c.26C>A	p.Thr9Asn	p.T9N	ENST00000307046	NM_001111285.1	9	aCc/aAc	0	1	1	UPI0000115ED4	0	NA	ENST00000307046		ENSG00000017427	5464		40	1.7		HGNC	p.T9N		IGF1		SNV			1				ENST00000337514	protein_coding	getma.org/?cm=var&var=hg19,12,102874134,G,T&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11454,hmmpanther:PTHR11454:SF4		T/N		T	low	208/1097		getma.org/?cm=msa&ty=f&p=IGF1_HUMAN&rb=1&re=50&var=T9N	tolerated_low_confidence(0.05)	Q6LD41_HUMAN			YES	IGF1,missense_variant,p.Thr9Asn,ENST00000456098,NM_001111283.1;IGF1,missense_variant,p.Thr9Asn,ENST00000337514,NM_000618.3;IGF1,missense_variant,p.Thr9Asn,ENST00000307046,NM_001111285.1;IGF1,missense_variant,p.Thr9Asn,ENST00000392904,;IGF1,upstream_gene_variant,,ENST00000424202,NM_001111284.1;IGF1,upstream_gene_variant,,ENST00000392905,;							MODERATE	26/588	T9N	IGF1_HUMAN			Transcript		benign(0.016)	.	ENSP00000302665		CCDS44962.1			1	
SPG11	0	LGGM	GRCh37	15	44943909	44943909	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	33	16	.	.	ENST00000261866.7:c.1236A>G	p.Ser412=	p.S412=	ENST00000261866	NM_025137.3	412	tcA/tcG	0	1	1	UPI0000456840	0		ENST00000261866		ENSG00000104133	11226		49			HGNC	p.S412S		SPG11		SNV			1				ENST00000559193	protein_coding			hmmpanther:PTHR13650		S		C		1253/7774				H0YN96_HUMAN,C4B7M3_HUMAN			YES	SPG11,synonymous_variant,p.=,ENST00000261866,NM_025137.3;SPG11,synonymous_variant,p.=,ENST00000535302,NM_001160227.1;SPG11,synonymous_variant,p.=,ENST00000427534,;SPG11,synonymous_variant,p.=,ENST00000558319,;SPG11,synonymous_variant,p.=,ENST00000559193,;SPG11,upstream_gene_variant,,ENST00000557866,;							LOW	1236/7332		SPTCS_HUMAN			Transcript			.	ENSP00000261866		CCDS10112.1			1	
PPP1R9A	0	LGGM	GRCh37	7	94540005	94540005	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	4	18	.	.	ENST00000433360.1:c.580C>T	p.Arg194Ter	p.R194*	ENST00000433360	NM_001166160.1	194	Cga/Tga	0	1		UPI00003BF75D	0	NA	ENST00000340694		ENSG00000158528	14946		22	0		HGNC	p.R194X		PPP1R9A		SNV							ENST00000289495	protein_coding	getma.org/?cm=var&var=hg19,7,94540005,C,T&fts=all		hmmpanther:PTHR16154,hmmpanther:PTHR16154:SF22,Low_complexity_(Seg):seg		R/*		T	NA	862/9689		NA		C9J730_HUMAN,C9J3G5_HUMAN,B7ZLX4_HUMAN				PPP1R9A,stop_gained,p.Arg194Ter,ENST00000289495,NM_001166161.1;PPP1R9A,stop_gained,p.Arg194Ter,ENST00000456331,NM_001166162.1;PPP1R9A,stop_gained,p.Arg194Ter,ENST00000433881,;PPP1R9A,stop_gained,p.Arg194Ter,ENST00000340694,NM_001166163.1,NM_017650.2;PPP1R9A,stop_gained,p.Arg194Ter,ENST00000433360,NM_001166160.1;PPP1R9A,stop_gained,p.Arg194Ter,ENST00000424654,;PPP1R9A,downstream_gene_variant,,ENST00000413325,;PPP1R9A,downstream_gene_variant,,ENST00000422324,;							HIGH	580/3297	R194*	NEB1_HUMAN			Transcript			.	ENSP00000344524		CCDS34683.1			1	
DCLK1	0	LGGM	GRCh37	13	36402387	36402387	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	4	18	.	.	ENST00000255448.4:c.1287A>T	p.Lys429Asn	p.K429N	ENST00000255448	NM_004734.4	429	aaA/aaT	0	1		UPI000004F5EA	0	getma.org/pdb.php?prot=DCLK1_HUMAN&from=390&to=647&var=K429N	ENST00000360631		ENSG00000133083	2700		22	0.74		HGNC	p.K429N		DCLK1		SNV							ENST00000255448	protein_coding	getma.org/?cm=var&var=hg19,13,36402387,T,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF123,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		K/N		A	neutral	1499/5629		getma.org/?cm=msa&ty=f&p=DCLK1_HUMAN&rb=390&re=647&var=K429N	deleterious(0)	B7Z655_HUMAN				DCLK1,missense_variant,p.Lys429Asn,ENST00000255448,NM_004734.4;DCLK1,missense_variant,p.Lys429Asn,ENST00000360631,;DCLK1,missense_variant,p.Lys122Asn,ENST00000379893,NM_001195416.1,NM_001195415.1;							MODERATE	1287/2223	K429N	DCLK1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000353846					1	
FUS	0	LGGM	GRCh37	16	31200470	31200470	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	40	19	.	.	ENST00000254108.7:c.859A>G	p.Ile287Val	p.I287V	ENST00000254108	NM_004960.3	287	Atc/Gtc	0	1	1	UPI000012AD9A	0	getma.org/pdb.php?prot=FUS_HUMAN&from=287&to=365&var=I287V	ENST00000254108		ENSG00000089280	4010		59	0.405		HGNC	p.I287V		FUS		SNV			1				ENST00000254108	protein_coding	getma.org/?cm=var&var=hg19,16,31200470,A,G&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR23238:SF5,hmmpanther:PTHR23238,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		I/V		G	neutral	964/2054		getma.org/?cm=msa&ty=f&p=FUS_HUMAN&rb=287&re=365&var=I287V	tolerated(0.17)	Q6IBQ5_HUMAN			YES	FUS,missense_variant,p.Ile287Val,ENST00000254108,NM_004960.3,NM_001170937.1,NM_001170634.1;FUS,missense_variant,p.Ile286Val,ENST00000380244,;FUS,missense_variant,p.Ile288Val,ENST00000568685,;FUS,non_coding_transcript_exon_variant,,ENST00000474990,;FUS,3_prime_UTR_variant,,ENST00000566605,;FUS,non_coding_transcript_exon_variant,,ENST00000487509,;FUS,non_coding_transcript_exon_variant,,ENST00000564766,;FUS,non_coding_transcript_exon_variant,,ENST00000568901,;FUS,upstream_gene_variant,,ENST00000483853,;FUS,downstream_gene_variant,,ENST00000487974,;FUS,upstream_gene_variant,,ENST00000569760,;FUS,downstream_gene_variant,,ENST00000570090,;							MODERATE	859/1581	I287V	FUS_HUMAN			Transcript		benign(0.008)	.	ENSP00000254108		CCDS10707.1			1	
IVL	0	LGGM	GRCh37	1	152884018	152884018	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	47	19	.	.	ENST00000368764.3:c.1745C>T	p.Pro582Leu	p.P582L	ENST00000368764		582	cCc/cTc	0	1	1	UPI000013E24A	0	NA	ENST00000368764		ENSG00000163207	6187		66	-0.345		HGNC	p.P436L		IVL		SNV							ENST00000392667	protein_coding	getma.org/?cm=var&var=hg19,1,152884018,C,T&fts=all				P/L		T	neutral	1809/2153		getma.org/?cm=msa&ty=f&p=INVO_HUMAN&rb=543&re=585&var=P582L	tolerated_low_confidence(1)	J3KPN6_HUMAN			YES	IVL,missense_variant,p.Pro582Leu,ENST00000368764,;IVL,missense_variant,p.Pro436Leu,ENST00000392667,NM_005547.2;							MODERATE	1745/1758	P582L	INVO_HUMAN			Transcript		unknown(0)	.	ENSP00000357753		CCDS1030.1			1	
TXNRD1	0	LGGM	GRCh37	12	104719184	104719184	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	36	19	.	.	ENST00000525566.1:c.1285A>G	p.Ile429Val	p.I429V	ENST00000525566	NM_001093771.2	429	Atc/Gtc	0	1	1	UPI00015294EE	0	getma.org/pdb.php?prot=TRXR1_HUMAN&from=164&to=490&var=I429V	ENST00000525566		ENSG00000198431	12437		55	-0.345		HGNC	p.I279V		TXNRD1		SNV							ENST00000527688	protein_coding	getma.org/?cm=var&var=hg19,12,104719184,A,G&fts=all		Superfamily_domains:SSF51905,Gene3D:3.50.50.60,TIGRFAM_domain:TIGR01438,Pfam_domain:PF07992,hmmpanther:PTHR22912,hmmpanther:PTHR22912:SF129		I/V		G	neutral	1309/3836		getma.org/?cm=msa&ty=f&p=TRXR1_HUMAN&rb=164&re=490&var=I429V	tolerated(0.62)	F5H780_HUMAN,E9PRI8_HUMAN,E9PQI3_HUMAN,E9PLT3_HUMAN,E9PKI4_HUMAN,E9PKD3_HUMAN,B7Z904_HUMAN,B2R5P6_HUMAN			YES	TXNRD1,missense_variant,p.Ile331Val,ENST00000526691,NM_001261445.1,NM_003330.3;TXNRD1,missense_variant,p.Ile279Val,ENST00000503506,NM_182729.2,NM_001261446.1,NM_182743.2;TXNRD1,missense_variant,p.Ile331Val,ENST00000388854,;TXNRD1,missense_variant,p.Ile378Val,ENST00000378070,;TXNRD1,missense_variant,p.Ile429Val,ENST00000525566,NM_001093771.2;TXNRD1,missense_variant,p.Ile429Val,ENST00000429002,;TXNRD1,missense_variant,p.Ile323Val,ENST00000526390,;TXNRD1,missense_variant,p.Ile279Val,ENST00000354940,NM_182742.2;TXNRD1,missense_variant,p.Ile394Val,ENST00000427956,;TXNRD1,missense_variant,p.Ile323Val,ENST00000397736,;TXNRD1,missense_variant,p.Ile241Val,ENST00000540716,;TXNRD1,missense_variant,p.Ile241Val,ENST00000529546,;TXNRD1,missense_variant,p.Ile329Val,ENST00000542918,;TXNRD1,missense_variant,p.Ile279Val,ENST00000524698,;TXNRD1,missense_variant,p.Ile348Val,ENST00000526950,;TXNRD1,5_prime_UTR_variant,,ENST00000529751,;TXNRD1,missense_variant,p.Ile279Val,ENST00000527688,;							MODERATE	1285/1950	I429V	TRXR1_HUMAN			Transcript		benign(0)	.	ENSP00000434516		CCDS53820.1			1	
CCDC39	0	LGGM	GRCh37	3	180372641	180372641	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	21	21	.	.	ENST00000442201.2:c.839A>G	p.Glu280Gly	p.E280G	ENST00000442201	NM_181426.1	280	gAg/gGg	0	1	1	UPI00015D7298	0	NA	ENST00000442201		ENSG00000145075	25244		42	2.42		HGNC	p.E280G		CCDC39		SNV			1				ENST00000442201	protein_coding	getma.org/?cm=var&var=hg19,3,180372641,T,C&fts=all		hmmpanther:PTHR18962:SF0,hmmpanther:PTHR18962		E/G		C	medium	959/3279		getma.org/?cm=msa&ty=f&p=CCD39_HUMAN&rb=1&re=348&var=E280G	deleterious(0)				YES	CCDC39,missense_variant,p.Glu364Gly,ENST00000273654,;CCDC39,missense_variant,p.Glu280Gly,ENST00000442201,NM_181426.1;CCDC39,missense_variant,p.Glu280Gly,ENST00000476379,;							MODERATE	839/2826	E280G	CCD39_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000405708		CCDS46964.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H110170	H110170N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	60	33	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			93		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
ECI2	0	LGGM	GRCh37	6	4133849	4133849	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	38	22	.	.	ENST00000380118.3:c.147A>C	p.Gln49His	p.Q49H	ENST00000380118		49	caA/caC	0	1	1	UPI000004ECA9	0	getma.org/pdb.php?prot=ECI2_HUMAN&from=39&to=123&var=Q49H	ENST00000380118		ENSG00000198721	14601		60	1.275		HGNC	p.Q96H		ECI2		SNV							ENST00000495548	protein_coding	getma.org/?cm=var&var=hg19,6,4133849,T,G&fts=all		Gene3D:1.20.80.10,Pfam_domain:PF00887,Prints_domain:PR00689,PROSITE_profiles:PS51228,hmmpanther:PTHR23310,hmmpanther:PTHR23310:SF55,Superfamily_domains:SSF47027		Q/H		G	low	184/1407		getma.org/?cm=msa&ty=f&p=ECI2_HUMAN&rb=39&re=123&var=Q49H	deleterious(0.03)	C9J000_HUMAN,B4DLL3_HUMAN			YES	ECI2,missense_variant,p.Gln19His,ENST00000465828,;ECI2,missense_variant,p.Gln49His,ENST00000380118,;ECI2,missense_variant,p.Gln19His,ENST00000380125,NM_001166010.1;ECI2,missense_variant,p.Gln19His,ENST00000361538,NM_006117.2;ECI2,missense_variant,p.Gln96His,ENST00000495548,;ECI2,5_prime_UTR_variant,,ENST00000413766,NM_206836.2;C6orf201,downstream_gene_variant,,ENST00000380175,NM_001085401.2;C6orf201,downstream_gene_variant,,ENST00000333388,;RP3-400B16.1,upstream_gene_variant,,ENST00000427049,;RP3-400B16.4,upstream_gene_variant,,ENST00000527831,;C6orf201,downstream_gene_variant,,ENST00000496987,;ECI2,missense_variant,p.Gln49His,ENST00000380120,;ECI2,missense_variant,p.Gln19His,ENST00000496241,;ECI2,missense_variant,p.Gln49His,ENST00000478266,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;ECI2,non_coding_transcript_exon_variant,,ENST00000489086,;C6orf201,downstream_gene_variant,,ENST00000436110,;C6orf201,downstream_gene_variant,,ENST00000427996,;C6orf201,downstream_gene_variant,,ENST00000451679,;							MODERATE	147/1185	Q49H	ECI2_HUMAN			Transcript		benign(0.061)	.	ENSP00000369461		CCDS43420.2			1	
KLHL41	0	LGGM	GRCh37	2	170367306	170367306	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	30	22	.	.	ENST00000284669.1:c.1018A>G	p.Ile340Val	p.I340V	ENST00000284669	NM_006063.2	340	Att/Gtt	0	1	1	UPI0000000DC5	0	getma.org/pdb.php?prot=KBTBA_HUMAN&from=238&to=386&var=I340V	ENST00000284669		ENSG00000239474	16905		52	1.245		HGNC	p.I340V		KLHL41		SNV			1				ENST00000284669	protein_coding	getma.org/?cm=var&var=hg19,2,170367306,A,G&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF146,Gene3D:1zgkA00,PIRSF_domain:PIRSF037037,Superfamily_domains:0052715		I/V		G	low	1095/2464		getma.org/?cm=msa&ty=f&p=KBTBA_HUMAN&rb=238&re=386&var=I340V	tolerated(0.11)				YES	KLHL41,missense_variant,p.Ile340Val,ENST00000284669,NM_006063.2;RP11-724O16.1,intron_variant,,ENST00000513963,;BBS5,intron_variant,,ENST00000554017,;BBS5,downstream_gene_variant,,ENST00000295240,NM_152384.2;BBS5,downstream_gene_variant,,ENST00000392663,;KLHL41,upstream_gene_variant,,ENST00000463400,;KLHL41,upstream_gene_variant,,ENST00000480330,;BBS5,downstream_gene_variant,,ENST00000472667,;							MODERATE	1018/1821	I340V	KLH41_HUMAN			Transcript		benign(0)	.	ENSP00000284669		CCDS2234.1			1	
ECI2	0	LGGM	GRCh37	6	4133844	4133844	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	39	23	.	.	ENST00000380118.3:c.152A>C	p.Lys51Thr	p.K51T	ENST00000380118		51	aAa/aCa	0	1	1	UPI000004ECA9	0	getma.org/pdb.php?prot=ECI2_HUMAN&from=39&to=123&var=K51T	ENST00000380118		ENSG00000198721	14601		62	2.69		HGNC	p.K98T		ECI2		SNV							ENST00000495548	protein_coding	getma.org/?cm=var&var=hg19,6,4133844,T,G&fts=all		Gene3D:1.20.80.10,Pfam_domain:PF00887,Prints_domain:PR00689,PROSITE_profiles:PS51228,hmmpanther:PTHR23310,hmmpanther:PTHR23310:SF55,Superfamily_domains:SSF47027		K/T		G	medium	189/1407		getma.org/?cm=msa&ty=f&p=ECI2_HUMAN&rb=39&re=123&var=K51T	tolerated(0.07)	C9J000_HUMAN,B4DLL3_HUMAN			YES	ECI2,missense_variant,p.Lys21Thr,ENST00000465828,;ECI2,missense_variant,p.Lys51Thr,ENST00000380118,;ECI2,missense_variant,p.Lys21Thr,ENST00000380125,NM_001166010.1;ECI2,missense_variant,p.Lys21Thr,ENST00000361538,NM_006117.2;ECI2,missense_variant,p.Lys98Thr,ENST00000495548,;ECI2,5_prime_UTR_variant,,ENST00000413766,NM_206836.2;C6orf201,downstream_gene_variant,,ENST00000380175,NM_001085401.2;C6orf201,downstream_gene_variant,,ENST00000333388,;RP3-400B16.1,upstream_gene_variant,,ENST00000427049,;RP3-400B16.4,upstream_gene_variant,,ENST00000527831,;C6orf201,downstream_gene_variant,,ENST00000496987,;ECI2,missense_variant,p.Lys51Thr,ENST00000380120,;ECI2,missense_variant,p.Lys21Thr,ENST00000496241,;ECI2,missense_variant,p.Lys51Thr,ENST00000478266,;ECI2,non_coding_transcript_exon_variant,,ENST00000464583,;ECI2,non_coding_transcript_exon_variant,,ENST00000464057,;ECI2,non_coding_transcript_exon_variant,,ENST00000489086,;C6orf201,downstream_gene_variant,,ENST00000436110,;C6orf201,downstream_gene_variant,,ENST00000427996,;C6orf201,downstream_gene_variant,,ENST00000451679,;							MODERATE	152/1185	K51T	ECI2_HUMAN			Transcript		benign(0.222)	.	ENSP00000369461		CCDS43420.2			1	
ESRP1	0	LGGM	GRCh37	8	95680361	95680361	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	68	24	.	.	ENST00000433389.2:c.1116C>T	p.Asp372=	p.D372=	ENST00000433389	NM_001034915.2	372	gaC/gaT	0	1	1	UPI0000210327	0		ENST00000433389		ENSG00000104413	25966	0.000606	92			HGNC	p.D372D	rs748528710	ESRP1		SNV							ENST00000454170	protein_coding			Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,SMART_domains:SM00360,Superfamily_domains:SSF54928		D		T		1306/3770	5.99E-05			E5RI26_HUMAN,E5RGE9_HUMAN			YES	ESRP1,synonymous_variant,p.=,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,synonymous_variant,p.=,ENST00000358397,;ESRP1,synonymous_variant,p.=,ENST00000423620,NM_001122826.1;ESRP1,synonymous_variant,p.=,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,synonymous_variant,p.=,ENST00000519505,;ESRP1,synonymous_variant,p.=,ENST00000517610,;ESRP1,downstream_gene_variant,,ENST00000522756,;ESRP1,non_coding_transcript_exon_variant,,ENST00000517556,;							LOW	1116/2046		ESRP1_HUMAN			Transcript			common_variant	ENSP00000405738	9.10E-05	CCDS47897.1			1	
KIAA1598	0	LGGM	GRCh37	10	118661327	118661327	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	25	25	.	.	ENST00000355371.4:c.1622G>T	p.Gly541Val	p.G541V	ENST00000355371	NM_001258299.1	541	gGt/gTt	0	1	1	UPI0000404A8F	0	NA	ENST00000355371		ENSG00000187164	29319		50	1.7		HGNC	p.G541V		KIAA1598		SNV							ENST00000355371	protein_coding	getma.org/?cm=var&var=hg19,10,118661327,C,A&fts=all		Low_complexity_(Seg):seg		G/V		A	low	2120/3941		getma.org/?cm=msa&ty=f&p=SHOT1_HUMAN&rb=51&re=629&var=G541V	deleterious(0)				YES	KIAA1598,missense_variant,p.Gly541Val,ENST00000355371,NM_001258299.1,NM_001127211.2,NM_001258298.1;KIAA1598,missense_variant,p.Gly541Val,ENST00000392903,;KIAA1598,missense_variant,p.Gly481Val,ENST00000392901,NM_001258300.1;KIAA1598,intron_variant,,ENST00000260777,NM_018330.6;ENO4,intron_variant,,ENST00000369207,;KIAA1598,non_coding_transcript_exon_variant,,ENST00000497044,;							MODERATE	1622/1896	G541V	SHOT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347532		CCDS44482.1			1	
KLB	0	LGGM	GRCh37	4	39409103	39409103	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110170	H110170N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	51	27	.	.	ENST00000257408.4:c.534T>G	p.Leu178=	p.L178=	ENST00000257408	NM_175737.3	178	ctT/ctG	0	1	1	UPI000000D726	0		ENST00000257408		ENSG00000134962	15527		78			HGNC	p.L178L		KLB		SNV							ENST00000257408	protein_coding			hmmpanther:PTHR10353:SF7,hmmpanther:PTHR10353,Pfam_domain:PF00232,Gene3D:3.20.20.80,Superfamily_domains:SSF51445		L		G		631/6082							YES	KLB,synonymous_variant,p.=,ENST00000257408,NM_175737.3;MIR5591,upstream_gene_variant,,ENST00000578248,;							LOW	534/3135		KLOTB_HUMAN			Transcript			.	ENSP00000257408		CCDS3451.1			1	
DOCK6	0	LGGM	GRCh37	19	11332598	11332598	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110170	H110170N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	33	27	.	.	ENST00000294618.7:c.3479G>A	p.Arg1160His	p.R1160H	ENST00000294618	NM_020812.3	1160	cGt/cAt	0	1	1	UPI000059D66F	0	NA	ENST00000294618		ENSG00000130158	19189		60	1.04		HGNC	p.R1160H	rs778082263	DOCK6		SNV			1				ENST00000294618	protein_coding	getma.org/?cm=var&var=hg19,19,11332598,C,T&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF65		R/H		T	low	3491/6358	4.53E-05	getma.org/?cm=msa&ty=f&p=DOCK6_HUMAN&rb=1125&re=1324&var=R1160H	tolerated(0.11)				YES	DOCK6,missense_variant,p.Arg1160His,ENST00000294618,NM_020812.3;DOCK6,missense_variant,p.Arg499His,ENST00000319867,;DOCK6,missense_variant,p.Arg449His,ENST00000587656,;DOCK6,upstream_gene_variant,,ENST00000588429,;DOCK6,upstream_gene_variant,,ENST00000592403,;DOCK6,downstream_gene_variant,,ENST00000592550,;							MODERATE	3479/6144	R1160H	DOCK6_HUMAN			Transcript		benign(0.003)	.	ENSP00000294618	3.31E-05	CCDS45975.1	0.00113		1	
LY9	0	LGGM	GRCh37	1	160766049	160766049	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	31	28	.	.	ENST00000263285.6:c.72G>C	p.Gln24His	p.Q24H	ENST00000263285		24	caG/caC	0	1	1	UPI00001416AF	0	NA	ENST00000263285		ENSG00000122224	6730		59	2.125		HGNC	p.Q24H		LY9		SNV							ENST00000341032	protein_coding	getma.org/?cm=var&var=hg19,1,160766049,G,C&fts=all		hmmpanther:PTHR12080,hmmpanther:PTHR12080:SF14		Q/H		C	medium	102/2443		getma.org/?cm=msa&ty=f&p=LY9_HUMAN&rb=1&re=155&var=Q24H	tolerated(0.06)				YES	LY9,missense_variant,p.Gln24His,ENST00000368037,NM_001261456.1,NM_002348.3;LY9,missense_variant,p.Gln24His,ENST00000263285,;LY9,missense_variant,p.Gln24His,ENST00000392203,NM_001261457.1;LY9,missense_variant,p.Gln24His,ENST00000341032,;LY9,missense_variant,p.Gln24His,ENST00000368039,NM_001033667.2;LY9,5_prime_UTR_variant,,ENST00000368040,;LY9,5_prime_UTR_variant,,ENST00000368041,;LY9,non_coding_transcript_exon_variant,,ENST00000471816,;LY9,non_coding_transcript_exon_variant,,ENST00000485624,;LY9,non_coding_transcript_exon_variant,,ENST00000480837,;LY9,missense_variant,p.Gln24His,ENST00000474998,;LY9,missense_variant,p.Gln20His,ENST00000490902,;							MODERATE	72/1968	Q24H	LY9_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000263285		CCDS30916.1			1	
CLCN4	0	LGGM	GRCh37	X	10188828	10188828	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	8	32	.	.	ENST00000380833.4:c.2103G>A	p.Pro701=	p.P701=	ENST00000380833	NM_001830.3	701	ccG/ccA	0	1	1	UPI0000127A99	0		ENST00000380833		ENSG00000073464	2022		40			HGNC	p.P701P		CLCN4		SNV							ENST00000380833	protein_coding			PROSITE_profiles:PS51371,hmmpanther:PTHR11689:SF18,hmmpanther:PTHR11689,Pfam_domain:PF00571,Gene3D:3.10.580.10,SMART_domains:SM00116,Superfamily_domains:SSF54631		P		A		2494/6750				Q75N13_HUMAN,B7Z5Z4_HUMAN			YES	CLCN4,synonymous_variant,p.=,ENST00000380833,NM_001830.3,NM_001256944.1;CLCN4,synonymous_variant,p.=,ENST00000380829,;CLCN4,synonymous_variant,p.=,ENST00000421085,;AC003666.1,upstream_gene_variant,,ENST00000410201,;							LOW	2103/2283		CLCN4_HUMAN			Transcript			.	ENSP00000370213		CCDS14137.1			1	
COL6A3	0	LGGM	GRCh37	2	238274629	238274629	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110170	H110170N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	38	40	.	.	ENST00000295550.4:c.5550T>A	p.Asn1850Lys	p.N1850K	ENST00000295550	NM_004369.3	1850	aaT/aaA	0	1	1	UPI0000456F39	0	NA	ENST00000295550		ENSG00000163359	2213		78	1.935		HGNC	p.N1650K		COL6A3		SNV			1				ENST00000346358	protein_coding	getma.org/?cm=var&var=hg19,2,238274629,A,T&fts=all		Gene3D:3.40.50.410,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300		N/K		T	medium	6003/10749		getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=1838&re=2024&var=N1850K		Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	COL6A3,missense_variant,p.Asn1850Lys,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Asn1649Lys,ENST00000347401,;COL6A3,missense_variant,p.Asn1644Lys,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Asn1650Lys,ENST00000346358,;COL6A3,missense_variant,p.Asn1644Lys,ENST00000409809,;COL6A3,missense_variant,p.Asn1243Lys,ENST00000472056,NM_057166.4;							MODERATE	5550/9534	N1850K	CO6A3_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000295550		CCDS33412.1			1	
TRHR	0	LGGM	GRCh37	8	110131470	110131470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110170	H110170N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110170N.bam, H110170T.bam	Illumina HiSeq	75	125	.	.	ENST00000518632.1:c.983G>A	p.Arg328His	p.R328H	ENST00000518632		328	cGt/cAt	0	1		UPI0000050437	0	NA	ENST00000311762		ENSG00000174417	12299		200	2.415		HGNC	p.R328H	rs769413252	TRHR	6.06E-05	SNV			1				ENST00000311762	protein_coding	getma.org/?cm=var&var=hg19,8,110131470,G,A&fts=all		hmmpanther:PTHR24243:SF115,hmmpanther:PTHR24243,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01846,Prints_domain:PR00237		R/H		A	medium	1072/1415	3.00E-05	getma.org/?cm=msa&ty=f&p=TRFR_HUMAN&rb=321&re=398&var=R328H	deleterious(0)					TRHR,missense_variant,p.Arg328His,ENST00000518632,;TRHR,missense_variant,p.Arg328His,ENST00000311762,NM_003301.5;	0.000116						MODERATE	983/1197	R328H	TRFR_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000309818	3.29E-05	CCDS6311.1			1	
KCNQ1	0	LGGM	GRCh37	11	2594192	2594192	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	14	2	.	.	ENST00000155840.5:c.897C>A	p.Tyr299Ter	p.Y299*	ENST00000155840	NM_000218.2	299	taC/taA	0	1	1	UPI000004662D	0	NA	ENST00000155840		ENSG00000053918	6294		16	0		HGNC	p.Y172X		KCNQ1		SNV			1				ENST00000335475	protein_coding	getma.org/?cm=var&var=hg19,11,2594192,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF109,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169		Y/*		A	NA	1005/3245		NA		Q96AI9_HUMAN,A0FIK7_HUMAN			YES	KCNQ1,stop_gained,p.Tyr299Ter,ENST00000155840,NM_000218.2,NM_181798.1;KCNQ1,stop_gained,p.Tyr172Ter,ENST00000335475,;KCNQ1,downstream_gene_variant,,ENST00000496887,;							HIGH	897/2031	Y299*	KCNQ1_HUMAN			Transcript			.	ENSP00000155840		CCDS7736.1			1	
INO80	0	LGGM	GRCh37	15	41319843	41319843	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	13	2	.	.	ENST00000361937.3:c.2999G>T	p.Arg1000Leu	p.R1000L	ENST00000361937		1000	cGc/cTc	0	1	1	UPI00001B6AFC	0	NA	ENST00000361937		ENSG00000128908	26956		15	0		HGNC	p.R1000L		INO80		SNV							ENST00000361937	protein_coding	getma.org/?cm=var&var=hg19,15,41319843,C,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF213		R/L		A	neutral	3424/6439		getma.org/?cm=msa&ty=f&p=INO80_HUMAN&rb=823&re=1022&var=R1000L	tolerated(0.55)	Q9NUK2_HUMAN			YES	INO80,missense_variant,p.Arg1000Leu,ENST00000361937,;INO80,missense_variant,p.Arg1000Leu,ENST00000401393,NM_017553.1;RP11-540O11.4,non_coding_transcript_exon_variant,,ENST00000560178,;RP11-540O11.4,downstream_gene_variant,,ENST00000558967,;INO80,missense_variant,p.Arg1000Leu,ENST00000558357,;INO80,upstream_gene_variant,,ENST00000557849,;							MODERATE	2999/4671	R1000L	INO80_HUMAN			Transcript		benign(0.005)	.	ENSP00000355205		CCDS10071.1			1	
YEATS2	0	LGGM	GRCh37	3	183528344	183528344	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	12	2	.	.	ENST00000305135.5:c.4242C>A	p.His1414Gln	p.H1414Q	ENST00000305135	NM_018023.4	1414	caC/caA	0	1	1	UPI00001BB2B9	0	NA	ENST00000305135		ENSG00000163872	25489		14	0.895		HGNC	p.H1414Q		YEATS2		SNV							ENST00000305135	protein_coding	getma.org/?cm=var&var=hg19,3,183528344,C,A&fts=all		hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF7		H/Q		A	low	4437/6506		getma.org/?cm=msa&ty=f&p=YETS2_HUMAN&rb=1315&re=1422&var=H1414Q	deleterious(0)				YES	YEATS2,missense_variant,p.His1414Gln,ENST00000305135,NM_018023.4;YEATS2-AS1,non_coding_transcript_exon_variant,,ENST00000609195,;YEATS2-AS1,upstream_gene_variant,,ENST00000425008,;YEATS2-AS1,upstream_gene_variant,,ENST00000609871,;YEATS2,non_coding_transcript_exon_variant,,ENST00000472593,;YEATS2,non_coding_transcript_exon_variant,,ENST00000468850,;YEATS2,downstream_gene_variant,,ENST00000481343,;							MODERATE	4242/4269	H1414Q	YETS2_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000306983		CCDS43175.1			1	
ARID1B	0	LGGM	GRCh37	6	157519945	157519945	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	3	2	.	.	ENST00000346085.5:c.4014G>A	p.Arg1338=	p.R1338=	ENST00000346085	NM_020732.3	1338	agG/agA	0	1		UPI000058E2EA	0		ENST00000350026		ENSG00000049618	18040		5			HGNC	p.R1378R	rs779177994	ARID1B		SNV			1				ENST00000367148	protein_coding			hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF11		R		A		3976/7971								ARID1B,splice_region_variant,p.=,ENST00000346085,NM_020732.3;ARID1B,splice_region_variant,p.=,ENST00000367148,;ARID1B,splice_region_variant,p.=,ENST00000275248,;ARID1B,splice_region_variant,p.=,ENST00000350026,NM_017519.2;ARID1B,splice_region_variant,p.=,ENST00000414678,;	0.000747						LOW	3975/6711		ARI1B_HUMAN			Transcript			common_variant	ENSP00000055163	4.12E-05	CCDS5251.2			1	
HMG20B	0	LGGM	GRCh37	19	3575590	3575590	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	6	2	.	.	ENST00000333651.6:c.404G>T	p.Arg135Leu	p.R135L	ENST00000333651	NM_006339.2	135	cGg/cTg	0	1	1	UPI000006D8AE	0	getma.org/pdb.php?prot=HM20B_HUMAN&from=70&to=138&var=R135L	ENST00000333651		ENSG00000064961	5002		8	0.65		HGNC	p.R135L		HMG20B		SNV							ENST00000333651	protein_coding	getma.org/?cm=var&var=hg19,19,3575590,G,T&fts=all		Gene3D:1.10.30.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00505,Prints_domain:PR00886,PROSITE_profiles:PS50118,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF137,SMART_domains:SM00398,Superfamily_domains:SSF47095		R/L		T	neutral	479/1596		getma.org/?cm=msa&ty=f&p=HM20B_HUMAN&rb=70&re=138&var=R135L	deleterious(0.03)	C9JQA7_HUMAN,C9J8X5_HUMAN			YES	HMG20B,missense_variant,p.Arg135Leu,ENST00000333651,NM_006339.2;HMG20B,missense_variant,p.Arg152Leu,ENST00000262949,;HMG20B,missense_variant,p.Arg135Leu,ENST00000453933,;HMG20B,missense_variant,p.Arg135Leu,ENST00000416526,;HMG20B,missense_variant,p.Arg149Leu,ENST00000417382,;HMG20B,upstream_gene_variant,,ENST00000585900,;MFSD12,upstream_gene_variant,,ENST00000592652,;MFSD12,upstream_gene_variant,,ENST00000591878,;MFSD12,upstream_gene_variant,,ENST00000586402,;HMG20B,downstream_gene_variant,,ENST00000585741,;HMG20B,3_prime_UTR_variant,,ENST00000435022,;HMG20B,non_coding_transcript_exon_variant,,ENST00000488973,;HMG20B,non_coding_transcript_exon_variant,,ENST00000486028,;HMG20B,non_coding_transcript_exon_variant,,ENST00000483417,;HMG20B,upstream_gene_variant,,ENST00000487894,;MFSD12,upstream_gene_variant,,ENST00000585814,;HMG20B,upstream_gene_variant,,ENST00000464304,;HMG20B,upstream_gene_variant,,ENST00000493191,;HMG20B,downstream_gene_variant,,ENST00000470356,;HMG20B,upstream_gene_variant,,ENST00000461099,;MFSD12,upstream_gene_variant,,ENST00000588626,;							MODERATE	404/954	R135L	HM20B_HUMAN			Transcript		possibly_damaging(0.476)	.	ENSP00000328269		CCDS45919.1			1	
FSHR	0	LGGM	GRCh37	2	49189951	49189951	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	21	3	.	.	ENST00000406846.2:c.2009G>C	p.Gly670Ala	p.G670A	ENST00000406846	NM_000145.3	670	gGc/gCc	0	1	1	UPI000013E97A	0	NA	ENST00000406846		ENSG00000170820	3969		24	2.34		HGNC	p.G644A		FSHR		SNV			1				ENST00000304421	protein_coding	getma.org/?cm=var&var=hg19,2,49189951,C,G&fts=all		Prints_domain:PR01143,hmmpanther:PTHR24372,hmmpanther:PTHR24372:SF5		G/A		G	medium	2129/2784		getma.org/?cm=msa&ty=f&p=FSHR_HUMAN&rb=627&re=695&var=G670A	deleterious(0.02)	F5GZW2_HUMAN,B6UV82_HUMAN,A5JS81_HUMAN			YES	FSHR,missense_variant,p.Gly670Ala,ENST00000406846,NM_000145.3;FSHR,missense_variant,p.Gly608Ala,ENST00000346173,;FSHR,missense_variant,p.Gly644Ala,ENST00000304421,NM_181446.2;FSHR,missense_variant,p.Gly406Ala,ENST00000541117,;FSHR,downstream_gene_variant,,ENST00000454032,;							MODERATE	2009/2088	G670A	FSHR_HUMAN			Transcript		benign(0.055)	.	ENSP00000384708		CCDS1843.1			1	
OPN4	0	LGGM	GRCh37	10	88418284	88418284	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	28	3	.	.	ENST00000372071.2:c.501C>T	p.Ser167=	p.S167=	ENST00000372071	NM_001030015.2	167	tcC/tcT	0	1		UPI000005047E	0		ENST00000241891		ENSG00000122375	14449		31			HGNC	p.S156S		OPN4		SNV							ENST00000241891	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,PROSITE_patterns:PS00237,hmmpanther:PTHR24240:SF72,hmmpanther:PTHR24240,PROSITE_profiles:PS50262		S		T		635/2308								OPN4,synonymous_variant,p.=,ENST00000372071,NM_001030015.2;OPN4,synonymous_variant,p.=,ENST00000241891,NM_033282.3;OPN4,synonymous_variant,p.=,ENST00000443292,;							LOW	468/1437		OPN4_HUMAN			Transcript			.	ENSP00000241891		CCDS7376.1			1	
UBE2D3	0	LGGM	GRCh37	4	103730952	103730952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	44	3	.	.	ENST00000357194.6:c.91G>T	p.Asp31Tyr	p.D31Y	ENST00000357194	NM_181893.2	31	Gat/Tat	0	1		UPI000000004D	0	getma.org/pdb.php?prot=UB2D3_HUMAN&from=5&to=142&var=D29Y	ENST00000321805		ENSG00000109332	12476		47	3.635		HGNC	p.D29Y		UBE2D3		SNV							ENST00000503418	protein_coding	getma.org/?cm=var&var=hg19,4,103730952,C,A&fts=all		Gene3D:3.10.110.10,Pfam_domain:PF00179,PROSITE_profiles:PS50127,hmmpanther:PTHR24068,hmmpanther:PTHR24068:SF48,SMART_domains:SM00212,Superfamily_domains:SSF54495		D/Y		A	high	548/1087		getma.org/?cm=msa&ty=f&p=UB2D3_HUMAN&rb=5&re=142&var=D29Y	deleterious_low_confidence(0)	D6RIZ3_HUMAN,D6RGD0_HUMAN,D6RFM0_HUMAN,D6RAW0_HUMAN,D6RAH7_HUMAN,D6RA11_HUMAN				UBE2D3,missense_variant,p.Asp29Tyr,ENST00000453744,NM_181891.2;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000394804,NM_181886.3;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000343106,NM_181892.3;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000394801,NM_003340.6,NM_181888.3;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000394803,NM_181889.2;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000321805,NM_181887.2;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000338145,NM_181890.2;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000349311,;UBE2D3,missense_variant,p.Asp23Tyr,ENST00000350435,;UBE2D3,missense_variant,p.Asp31Tyr,ENST00000357194,NM_181893.2;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000508249,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000502690,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000508238,;UBE2D3,5_prime_UTR_variant,,ENST00000508476,;UBE2D3,5_prime_UTR_variant,,ENST00000504211,;UBE2D3,5_prime_UTR_variant,,ENST00000507845,;UBE2D3,5_prime_UTR_variant,,ENST00000502404,;UBE2D3,5_prime_UTR_variant,,ENST00000505207,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000513098,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000505307,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000502563,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000503418,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000514755,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000510129,;UBE2D3,missense_variant,p.Asp29Tyr,ENST00000508974,;UBE2D3,5_prime_UTR_variant,,ENST00000508635,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508474,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503742,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000508818,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000503282,;UBE2D3,non_coding_transcript_exon_variant,,ENST00000510599,;							MODERATE	85/444	D29Y	UB2D3_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000318494		CCDS3660.1			1	
RHCE	0	LGGM	GRCh37	1	25712252	25712252	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	32	3	.	.	ENST00000294413.7:c.1023C>A	p.Ile341=	p.I341=	ENST00000294413	NM_020485.4	341	atC/atA	0	1	1	UPI00001D9627	0		ENST00000294413		ENSG00000188672	10008		35			HGNC	p.I341I		RHCE		SNV			1				ENST00000413854	protein_coding			Prints_domain:PR00342,Superfamily_domains:0044218,Gene3D:1.10.3430.10,Pfam_domain:PF00909,hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883,Transmembrane_helices:TMhelix		I		T		1082/1591				Q9UP89_HUMAN,Q9UEC6_HUMAN,Q8NDV4_HUMAN,Q5UD29_HUMAN,D0AB04_HUMAN,D0AB03_HUMAN,B6ZCF8_HUMAN,B6ZCF7_HUMAN,A8YPS4_HUMAN			YES	RHCE,synonymous_variant,p.=,ENST00000349320,;RHCE,synonymous_variant,p.=,ENST00000294413,NM_020485.4;RHCE,synonymous_variant,p.=,ENST00000243186,;RHCE,synonymous_variant,p.=,ENST00000374352,;RHCE,synonymous_variant,p.=,ENST00000413854,;RHCE,synonymous_variant,p.=,ENST00000455194,;RHCE,synonymous_variant,p.=,ENST00000340849,NM_138617.3;RHCE,synonymous_variant,p.=,ENST00000346452,NM_138616.3;RHCE,intron_variant,,ENST00000425135,;RHCE,intron_variant,,ENST00000349438,NM_138618.3;RHCE,intron_variant,,ENST00000527747,;RHCE,3_prime_UTR_variant,,ENST00000533771,;RHCE,non_coding_transcript_exon_variant,,ENST00000527187,;							LOW	1023/1254		RHCE_HUMAN			Transcript			.	ENSP00000294413		CCDS30635.1			1	
PBRM1	0	LGGM	GRCh37	3	52598173	52598173	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	24	3	.	.	ENST00000394830.3:c.3693T>C	p.Leu1231=	p.L1231=	ENST00000394830	NM_018313.4	1231	ctT/ctC	0	1		UPI000019A59F	0		ENST00000296302		ENSG00000163939	30064		27			HGNC	p.L1256L		PBRM1		SNV			1				ENST00000409057	protein_coding			Pfam_domain:PF01426,PROSITE_profiles:PS51038,hmmpanther:PTHR16062,SMART_domains:SM00439		L		G		3770/5145				C9JQF1_HUMAN,C9JPI5_HUMAN,C9JCJ2_HUMAN,C9J9L6_HUMAN,C9J409_HUMAN,C9J053_HUMAN				PBRM1,synonymous_variant,p.=,ENST00000356770,;PBRM1,synonymous_variant,p.=,ENST00000296302,;PBRM1,synonymous_variant,p.=,ENST00000394830,NM_018313.4;PBRM1,synonymous_variant,p.=,ENST00000409114,;PBRM1,synonymous_variant,p.=,ENST00000409057,;PBRM1,synonymous_variant,p.=,ENST00000410007,;PBRM1,synonymous_variant,p.=,ENST00000409767,;PBRM1,synonymous_variant,p.=,ENST00000337303,;PBRM1,synonymous_variant,p.=,ENST00000423351,;SMIM4,intron_variant,,ENST00000476842,;RNU6ATAC16P,downstream_gene_variant,,ENST00000408591,;PBRM1,3_prime_UTR_variant,,ENST00000412587,;							LOW	3768/5070		PB1_HUMAN			Transcript			.	ENSP00000296302					1	
TMEM147	0	LGGM	GRCh37	19	36037641	36037641	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	26	3	.	.	ENST00000222284.5:c.275C>T	p.Ala92Val	p.A92V	ENST00000222284	NM_032635.3	92	gCc/gTc	0	1	1	UPI0000072F84	0	NA	ENST00000222284		ENSG00000105677	30414		29	1.1		HGNC	p.A92V	COSM247870	TMEM147		SNV						1	ENST00000392205	protein_coding	getma.org/?cm=var&var=hg19,19,36037641,C,T&fts=all		hmmpanther:PTHR12869:SF0,hmmpanther:PTHR12869,Pfam_domain:PF09767		A/V		T	low	420/899		getma.org/?cm=msa&ty=f&p=TM147_HUMAN&rb=2&re=158&var=A92V	tolerated(0.19)	A8MU21_HUMAN			YES	TMEM147,missense_variant,p.Ala43Val,ENST00000392204,NM_001242597.1;TMEM147,missense_variant,p.Ala92Val,ENST00000222284,NM_032635.3;TMEM147,missense_variant,p.Ala92Val,ENST00000392205,;ATP4A,downstream_gene_variant,,ENST00000262623,NM_000704.2;GAPDHS,downstream_gene_variant,,ENST00000222286,NM_014364.4;GAPDHS,downstream_gene_variant,,ENST00000585510,;AD000090.2,upstream_gene_variant,,ENST00000588286,;AD000090.2,upstream_gene_variant,,ENST00000590717,;AD000090.2,upstream_gene_variant,,ENST00000589137,;AD000090.2,upstream_gene_variant,,ENST00000590125,;AD000090.2,upstream_gene_variant,,ENST00000444728,;TMEM147,non_coding_transcript_exon_variant,,ENST00000595467,;TMEM147,non_coding_transcript_exon_variant,,ENST00000599895,;TMEM147,non_coding_transcript_exon_variant,,ENST00000477168,;TMEM147,non_coding_transcript_exon_variant,,ENST00000595180,;TMEM147,intron_variant,,ENST00000593027,NM_001242598.1;ATP4A,downstream_gene_variant,,ENST00000592131,;GAPDHS,downstream_gene_variant,,ENST00000586334,;TMEM147,downstream_gene_variant,,ENST00000596232,;					1		MODERATE	275/675	A92V	TM147_HUMAN			Transcript		benign(0.201)	.	ENSP00000222284		CCDS12466.1			1	
FDPS	0	LGGM	GRCh37	1	155287783	155287783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	28	3	.	.	ENST00000356657.6:c.532C>T	p.Arg178Cys	p.R178C	ENST00000356657	NM_001135821.1	178	Cgc/Tgc	0	1	1	UPI000006E4F7	0	getma.org/pdb.php?prot=FPPS_HUMAN&from=110&to=382&var=R178C	ENST00000356657		ENSG00000160752	3631	8.64E-05	31	2.16		HGNC	p.R112C	rs749581999,COSM2153567	FDPS		SNV						0,1	ENST00000447866	protein_coding	getma.org/?cm=var&var=hg19,1,155287783,C,T&fts=all		Gene3D:1.10.600.10,Pfam_domain:PF00348,PROSITE_patterns:PS00723,hmmpanther:PTHR11525,hmmpanther:PTHR11525:SF0,Superfamily_domains:SSF48576		R/C		T	medium	694/1478	1.50E-05	getma.org/?cm=msa&ty=f&p=FPPS_HUMAN&rb=110&re=382&var=R178C	deleterious(0.04)				YES	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,;					0,1		MODERATE	532/1260	R178C	FPPS_HUMAN			Transcript		possibly_damaging(0.475)	.	ENSP00000349078	1.65E-05	CCDS1110.1			1	
MTERFD3	0	LGGM	GRCh37	12	107372467	107372467	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	20	3	.	.	ENST00000552029.1:c.26C>T	p.Ser9Phe	p.S9F	ENST00000552029		9	tCc/tTc	0	1		UPI000006E7A4	0	NA	ENST00000240050		ENSG00000120832	30779		23	1.5		HGNC	p.S9F		MTERFD3		SNV							ENST00000550496	protein_coding	getma.org/?cm=var&var=hg19,12,107372467,G,A&fts=all		hmmpanther:PTHR15437,hmmpanther:PTHR15437:SF1,Low_complexity_(Seg):seg		S/F		A	low	392/1790		getma.org/?cm=msa&ty=f&p=MTER3_HUMAN&rb=1&re=54&var=S9F	tolerated(0.13)	F8VXH5_HUMAN,F8VSL4_HUMAN,F8VSD8_HUMAN				MTERFD3,missense_variant,p.Ser9Phe,ENST00000552029,;MTERFD3,missense_variant,p.Ser9Phe,ENST00000240050,NM_001033050.2;MTERFD3,missense_variant,p.Ser9Phe,ENST00000392830,NM_025198.4;MTERFD3,missense_variant,p.Ser9Phe,ENST00000548101,;MTERFD3,missense_variant,p.Ser9Phe,ENST00000550736,;MTERFD3,missense_variant,p.Ser9Phe,ENST00000550496,;C12orf23,downstream_gene_variant,,ENST00000280756,NM_152261.2;C12orf23,downstream_gene_variant,,ENST00000548125,;C12orf23,non_coding_transcript_exon_variant,,ENST00000551237,;C12orf23,non_coding_transcript_exon_variant,,ENST00000548806,;							MODERATE	26/1158	S9F	MTER3_HUMAN			Transcript		benign(0.001)	.	ENSP00000240050		CCDS9111.1			1	
CNOT10	0	LGGM	GRCh37	3	32811437	32811437	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	30	3	.	.	ENST00000454516.2:c.2243A>G	p.Tyr748Cys	p.Y748C	ENST00000454516	NM_001256742.1	748	tAc/tGc	0	1		UPI000006DA16	0	NA	ENST00000328834		ENSG00000182973	23817		33	1.935		HGNC	p.Y688C		CNOT10		SNV							ENST00000328834	protein_coding	getma.org/?cm=var&var=hg19,3,32811437,A,G&fts=all		hmmpanther:PTHR12979:SF5,hmmpanther:PTHR12979,Superfamily_domains:SSF48452		Y/C		G	medium	2379/2815		getma.org/?cm=msa&ty=f&p=CNOTA_HUMAN&rb=673&re=744&var=Y688C	deleterious(0)	B7Z5B3_HUMAN				CNOT10,missense_variant,p.Tyr688Cys,ENST00000328834,NM_015442.2;CNOT10,missense_variant,p.Tyr748Cys,ENST00000454516,NM_001256742.1;CNOT10,missense_variant,p.Tyr661Cys,ENST00000331889,NM_001256741.1;CNOT10,missense_variant,p.Tyr223Cys,ENST00000430408,;CNOT10,non_coding_transcript_exon_variant,,ENST00000471003,;CNOT10,non_coding_transcript_exon_variant,,ENST00000473064,;CNOT10,3_prime_UTR_variant,,ENST00000416457,;CNOT10,non_coding_transcript_exon_variant,,ENST00000481526,;CNOT10,non_coding_transcript_exon_variant,,ENST00000479397,;CNOT10,non_coding_transcript_exon_variant,,ENST00000476967,;CNOT10,intron_variant,,ENST00000435630,;CNOT10,downstream_gene_variant,,ENST00000468599,;							MODERATE	2063/2235	Y688C	CNO10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000330060		CCDS2655.1			1	
GNG11	0	LGGM	GRCh37	7	93555457	93555457	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	12	3	.	.	ENST00000248564.5:c.151G>A	p.Asp51Asn	p.D51N	ENST00000248564	NM_004126.3	51	Gat/Aat	0	1	1	UPI0000001AD4	0		ENST00000248564		ENSG00000127920	4403		15			HGNC	p.D51N		GNG11		SNV							ENST00000248564	protein_coding			Gene3D:4.10.260.10,Pfam_domain:PF00631,Prints_domain:PR00321,PROSITE_profiles:PS50058,hmmpanther:PTHR13809,hmmpanther:PTHR13809:SF20,SMART_domains:SM00224,Superfamily_domains:SSF48670		D/N		A		590/3055			deleterious(0.02)	Q53Y01_HUMAN			YES	GNG11,missense_variant,p.Asp51Asn,ENST00000248564,NM_004126.3;							MODERATE	151/222		GBG11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000248564		CCDS5634.1			1	
OR8K3	0	LGGM	GRCh37	11	56086516	56086516	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	38	3	.	.	ENST00000312711.1:c.734C>G	p.Thr245Arg	p.T245R	ENST00000312711	NM_001005202.1	245	aCa/aGa	0	1	1	UPI0000041BE7	0	NA	ENST00000312711		ENSG00000181689	15313		41	3.815		HGNC	p.T245R		OR8K3		SNV							ENST00000312711	protein_coding	getma.org/?cm=var&var=hg19,11,56086516,C,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF161,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		T/R		G	high	734/939		getma.org/?cm=msa&ty=f&p=OR8K3_HUMAN&rb=139&re=282&var=T245R	deleterious_low_confidence(0)				YES	OR8K3,missense_variant,p.Thr245Arg,ENST00000312711,NM_001005202.1;							MODERATE	734/939	T245R	OR8K3_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000323555		CCDS31527.1			1	
EP400	0	LGGM	GRCh37	12	132508394	132508394	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	12	4	.	.	ENST00000389561.2:c.4763C>T	p.Thr1588Met	p.T1588M	ENST00000389561	NM_015409.4	1588	aCg/aTg	0	1	1	UPI00004566BC	0	NA	ENST00000389561		ENSG00000183495	11958		16	1.845		HGNC	p.T1588M	rs757987853	EP400	6.09E-05	SNV							ENST00000541296	protein_coding	getma.org/?cm=var&var=hg19,12,132508394,C,T&fts=all		hmmpanther:PTHR10799:SF599,hmmpanther:PTHR10799		T/M		T	low	4872/12268		getma.org/?cm=msa&ty=f&p=EP400_HUMAN&rb=1451&re=1729&var=T1624M					YES	EP400,missense_variant,p.Thr1624Met,ENST00000333577,;EP400,missense_variant,p.Thr1588Met,ENST00000389561,NM_015409.4;EP400,missense_variant,p.Thr1587Met,ENST00000389562,;EP400,missense_variant,p.Thr1551Met,ENST00000332482,;EP400,missense_variant,p.Thr1507Met,ENST00000330386,;							MODERATE	4763/9372	T1624M	EP400_HUMAN			Transcript		unknown(0)	.	ENSP00000374212	8.24E-06	CCDS31929.2			1	
MYH14	0	LGGM	GRCh37	19	50812308	50812308	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	26	4	.	.	ENST00000601313.1:c.5834A>T	p.Glu1945Val	p.E1945V	ENST00000601313	NM_001145809.1	1945	gAg/gTg	0	1		UPI0000551C8C	0	NA	ENST00000376970		ENSG00000105357	23212		30	2.81		HGNC	p.E1937V		MYH14		SNV			1				ENST00000376970	protein_coding	getma.org/?cm=var&var=hg19,19,50812308,A,T&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF318		E/V		T	medium	5857/6886		getma.org/?cm=msa&ty=f&p=MYH14_HUMAN&rb=1090&re=1947&var=E1904V		F2Z2U8_HUMAN,A1L2Z2_HUMAN				MYH14,missense_variant,p.Glu1945Val,ENST00000440075,;MYH14,missense_variant,p.Glu1945Val,ENST00000601313,NM_001145809.1;MYH14,missense_variant,p.Glu1937Val,ENST00000376970,NM_024729.3;MYH14,missense_variant,p.Glu1945Val,ENST00000262269,;MYH14,missense_variant,p.Glu1912Val,ENST00000425460,NM_001077186.1;MYH14,missense_variant,p.Glu1912Val,ENST00000598205,;MYH14,missense_variant,p.Glu1904Val,ENST00000596571,;KCNC3,downstream_gene_variant,,ENST00000376959,;KCNC3,downstream_gene_variant,,ENST00000474951,;KCNC3,downstream_gene_variant,,ENST00000391818,;CTB-191K22.5,downstream_gene_variant,,ENST00000595563,;MYH14,non_coding_transcript_exon_variant,,ENST00000595016,;MYH14,non_coding_transcript_exon_variant,,ENST00000597072,;							MODERATE	5810/6087	E1904V				Transcript		probably_damaging(0.924)	.	ENSP00000366169					1	
LRGUK	0	LGGM	GRCh37	7	133863332	133863332	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	13	4	.	.	ENST00000285928.2:c.1185C>T	p.Ser395=	p.S395=	ENST00000285928	NM_144648.1	395	agC/agT	0	1	1	UPI0000072C76	0		ENST00000285928		ENSG00000155530	21964		17			HGNC	p.S395S	rs200858255,COSM1085733	LRGUK	6.08E-05	SNV						0,1	ENST00000285928	protein_coding		A:0	hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF35		S		T		1254/3163					A:0	A:0.001	YES	LRGUK,synonymous_variant,p.=,ENST00000285928,NM_144648.1;		A:0.0002			0,1		LOW	1185/2478		LRGUK_HUMAN		A:0	Transcript			.	ENSP00000285928	8.24E-06	CCDS5830.1		A:0	1	
FGFR1	0	LGGM	GRCh37	8	38285455	38285455	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	43	4	.	.	ENST00000425967.3:c.698G>T	p.Arg233Ile	p.R233I	ENST00000425967	NM_001174067.1	233	aGa/aTa	0	1		UPI00000534B8	0	getma.org/pdb.php?prot=FGFR1_HUMAN&from=160&to=247&var=R202I	ENST00000447712		ENSG00000077782	3688		47	3.185		HGNC	p.R113I		FGFR1		SNV			1				ENST00000356207	protein_coding	getma.org/?cm=var&var=hg19,8,38285455,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/I		A	medium	1547/5900		getma.org/?cm=msa&ty=f&p=FGFR1_HUMAN&rb=160&re=247&var=R202I	deleterious(0)	E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,missense_variant,p.Arg203Ile,ENST00000341462,;FGFR1,missense_variant,p.Arg202Ile,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,missense_variant,p.Arg200Ile,ENST00000397091,;FGFR1,missense_variant,p.Arg202Ile,ENST00000532791,;FGFR1,missense_variant,p.Arg233Ile,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Arg194Ile,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Arg113Ile,ENST00000356207,NM_023105.2;FGFR1,missense_variant,p.Arg111Ile,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Arg200Ile,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,missense_variant,p.Arg111Ile,ENST00000397103,;FGFR1,missense_variant,p.Arg200Ile,ENST00000397108,;FGFR1,missense_variant,p.Arg202Ile,ENST00000525001,;FGFR1,missense_variant,p.Arg113Ile,ENST00000529552,;FGFR1,missense_variant,p.Arg111Ile,ENST00000526742,;FGFR1,missense_variant,p.Arg42Ile,ENST00000533668,;FGFR1,downstream_gene_variant,,ENST00000413133,;FGFR1,downstream_gene_variant,,ENST00000434187,;FGFR1,downstream_gene_variant,,ENST00000530568,;RP11-350N15.4,downstream_gene_variant,,ENST00000528407,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527203,;FGFR1,intron_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,3_prime_UTR_variant,,ENST00000484370,;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,,ENST00000474970,;FGFR1,non_coding_transcript_exon_variant,,ENST00000532386,;FGFR1,downstream_gene_variant,,ENST00000397090,;FGFR1,upstream_gene_variant,,ENST00000464163,;FGFR1,upstream_gene_variant,,ENST00000475621,;							MODERATE	605/2469	R202I	FGFR1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000400162		CCDS6107.2			1	
XIRP2	0	LGGM	GRCh37	2	168108408	168108408	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	22	4	.	.	ENST00000409195.1:c.10506T>C	p.Ser3502=	p.S3502=	ENST00000409195	NM_152381.5	3502	tcT/tcC	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		26			HGNC	p.S3280S		XIRP2		SNV							ENST00000409273	protein_coding			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		S		C		10595/12675				J3KNB1_HUMAN			YES	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;							LOW	10506/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
POMGNT2	0	LGGM	GRCh37	3	43121607	43121607	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	8	4	.	.	ENST00000344697.2:c.1317C>A	p.Asn439Lys	p.N439K	ENST00000344697	NM_032806.5	439	aaC/aaA	0	1	1	UPI0000037921	0	NA	ENST00000344697		ENSG00000144647	25902		12	2.63		HGNC	p.N439K		POMGNT2		SNV			1				ENST00000344697	protein_coding	getma.org/?cm=var&var=hg19,3,43121607,G,T&fts=all		hmmpanther:PTHR20961:SF0,hmmpanther:PTHR20961		N/K		T	medium	1663/2544		getma.org/?cm=msa&ty=f&p=AGO61_HUMAN&rb=396&re=580&var=N439K	deleterious(0.01)				YES	POMGNT2,missense_variant,p.Asn439Lys,ENST00000344697,NM_032806.5;POMGNT2,missense_variant,p.Asn439Lys,ENST00000441964,;							MODERATE	1317/1743	N439K	PMGT2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000344125		CCDS2709.1			1	
CRYBB3	0	LGGM	GRCh37	22	25601329	25601329	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	11	4	.	.	ENST00000215855.2:c.470C>T	p.Thr157Met	p.T157M	ENST00000215855	NM_004076.4	157	aCg/aTg	0	1	1	UPI000013C6A0	0	getma.org/pdb.php?prot=CRBB3_HUMAN&from=115&to=197&var=T157M	ENST00000215855		ENSG00000100053	2400		15	2.885		HGNC	p.T157M	rs375467933	CRYBB3	0.00112	SNV	T:0		1				ENST00000215855	protein_coding	getma.org/?cm=var&var=hg19,22,25601329,C,T&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF13,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695		T/M	T:0.0001	T	medium	550/867	4.58E-05	getma.org/?cm=msa&ty=f&p=CRBB3_HUMAN&rb=115&re=197&var=T157M	tolerated(0.05)				YES	CRYBB3,missense_variant,p.Thr157Met,ENST00000215855,NM_004076.4;CRYBB3,intron_variant,,ENST00000404334,;							MODERATE	470/636	T157M	CRBB3_HUMAN			Transcript		probably_damaging(0.998)	common_variant	ENSP00000215855	0.000173	CCDS13830.1			1	
CTNNB1	0	LGGM	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	27	4	.	.	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=265&to=349&var=K335I	ENST00000349496		ENSG00000168036	2514		31	3.02		HGNC	p.K335I	COSM17797	CTNNB1		SNV			1			1	ENST00000396183	protein_coding	getma.org/?cm=var&var=hg19,3,41268766,A,T&fts=all		PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869		K/I		T	medium	1284/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=265&re=349&var=K335I	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000488914,;					1		MODERATE	1004/2346	K335I	CTNB1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000344456		CCDS2694.1			1	
PPARGC1A	0	LGGM	GRCh37	4	23803364	23803364	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	28	5	.	.	ENST00000264867.2:c.2282A>C	p.Tyr761Ser	p.Y761S	ENST00000264867	NM_013261.3	761	tAt/tCt	0	1	1	UPI000004D072	0	NA	ENST00000264867		ENSG00000109819	9237		33	2.375		HGNC	p.Y761S		PPARGC1A		SNV			1				ENST00000264867	protein_coding	getma.org/?cm=var&var=hg19,4,23803364,T,G&fts=all		hmmpanther:PTHR15528:SF10,hmmpanther:PTHR15528		Y/S		G	medium	2402/6318		getma.org/?cm=msa&ty=f&p=PRGC1_HUMAN&rb=743&re=798&var=Y761S	deleterious(0)	G8DM16_HUMAN			YES	PPARGC1A,missense_variant,p.Tyr761Ser,ENST00000264867,NM_013261.3;PPARGC1A,non_coding_transcript_exon_variant,,ENST00000509702,;PPARGC1A,3_prime_UTR_variant,,ENST00000506055,;							MODERATE	2282/2397	Y761S	PRGC1_HUMAN			Transcript		unknown(0)	.	ENSP00000264867		CCDS3429.1			1	
DNMT3B	0	LGGM	GRCh37	20	31390249	31390249	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	72	5	.	.	ENST00000328111.2:c.2204T>A	p.Phe735Tyr	p.F735Y	ENST00000328111	NM_006892.3	735	tTc/tAc	0	1	1	UPI0000001046	0	getma.org/pdb.php?prot=DNM3B_HUMAN&from=726&to=853&var=F735Y	ENST00000328111		ENSG00000088305	2979		77	1.73		HGNC	p.F727Y		DNMT3B		SNV			1				ENST00000201963	protein_coding	getma.org/?cm=var&var=hg19,20,31390249,T,A&fts=all		PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068,Superfamily_domains:SSF53335		F/Y		A	low	2525/4336		getma.org/?cm=msa&ty=f&p=DNM3B_HUMAN&rb=726&re=853&var=F735Y	deleterious(0.04)				YES	DNMT3B,missense_variant,p.Phe735Tyr,ENST00000328111,NM_006892.3;DNMT3B,missense_variant,p.Phe727Tyr,ENST00000201963,NM_175850.2;DNMT3B,missense_variant,p.Phe715Tyr,ENST00000353855,NM_175848.1;DNMT3B,missense_variant,p.Phe715Tyr,ENST00000348286,NM_175849.1,NM_001207055.1;DNMT3B,missense_variant,p.Phe715Tyr,ENST00000344505,;DNMT3B,missense_variant,p.Phe673Tyr,ENST00000443239,;DNMT3B,missense_variant,p.Phe639Tyr,ENST00000456297,NM_001207056.1;DNMT3B,downstream_gene_variant,,ENST00000375623,;							MODERATE	2204/2562	F735Y	DNM3B_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000328547		CCDS13205.1			1	
RGS22	0	LGGM	GRCh37	8	101075720	101075720	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	33	5	.	.	ENST00000360863.6:c.1276T>A	p.Leu426Met	p.L426M	ENST00000360863	NM_015668.3	426	Ttg/Atg	0	1	1	UPI0000E5AF25	0	NA	ENST00000360863		ENSG00000132554	24499		38	1.79		HGNC	p.L426M		RGS22		SNV							ENST00000360863	protein_coding	getma.org/?cm=var&var=hg19,8,101075720,A,T&fts=all		hmmpanther:PTHR10845:SF132,hmmpanther:PTHR10845,Superfamily_domains:SSF48097		L/M		T	low	1471/4296		getma.org/?cm=msa&ty=f&p=RGS22_HUMAN&rb=401&re=600&var=L426M	tolerated(0.07)	E5RHE4_HUMAN,E5RFV6_HUMAN			YES	RGS22,missense_variant,p.Leu426Met,ENST00000360863,NM_015668.3;RGS22,missense_variant,p.Leu245Met,ENST00000523287,NM_001286693.1;RGS22,missense_variant,p.Leu414Met,ENST00000523437,NM_001286692.1;RGS22,intron_variant,,ENST00000517828,;RGS22,downstream_gene_variant,,ENST00000520117,;RGS22,missense_variant,p.Leu426Met,ENST00000519725,;RGS22,non_coding_transcript_exon_variant,,ENST00000520923,;							MODERATE	1276/3795	L426M	RGS22_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000354109		CCDS43758.1			1	
EVC2	0	LGGM	GRCh37	4	5624382	5624382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	17	5	.	.	ENST00000344408.5:c.2383G>A	p.Glu795Lys	p.E795K	ENST00000344408	NM_147127.4	795	Gag/Aag	0	1	1	UPI00001910B5	0	NA	ENST00000344408		ENSG00000173040	19747		22	2.005		HGNC	p.E795K		EVC2		SNV			1				ENST00000344408	protein_coding	getma.org/?cm=var&var=hg19,4,5624382,C,T&fts=all		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		E/K		T	medium	2437/4390		getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=662&re=861&var=E795K	deleterious(0)	Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,missense_variant,p.Glu715Lys,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Glu795Lys,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Glu795Lys,ENST00000344938,;EVC2,missense_variant,p.Glu715Lys,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;							MODERATE	2383/3927	E795K	LBN_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000342144		CCDS3382.2			1	
GRM8	0	LGGM	GRCh37	7	126173893	126173893	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	21	5	.	.	ENST00000339582.2:c.1543G>C	p.Val515Leu	p.V515L	ENST00000339582		515	Gtc/Ctc	0	1	1	UPI000012F085	0	getma.org/pdb.php?prot=GRM8_HUMAN&from=512&to=562&var=V515L	ENST00000339582		ENSG00000179603	4600		26	1.845		HGNC	p.V515L	rs769863833	GRM8		SNV							ENST00000358373	protein_coding	getma.org/?cm=var&var=hg19,7,126173893,C,G&fts=all		Pfam_domain:PF07562,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF26		V/L		G	low	2352/4057	1.51E-05	getma.org/?cm=msa&ty=f&p=GRM8_HUMAN&rb=512&re=562&var=V515L	tolerated(0.17)	E7ETK3_HUMAN,C9J7I1_HUMAN			YES	GRM8,missense_variant,p.Val515Leu,ENST00000339582,;GRM8,missense_variant,p.Val515Leu,ENST00000358373,NM_001127323.1;GRM8,missense_variant,p.Val515Leu,ENST00000444921,NM_000845.2;GRM8,intron_variant,,ENST00000480995,;GRM8,missense_variant,p.Val515Leu,ENST00000472701,;GRM8,3_prime_UTR_variant,,ENST00000341617,;							MODERATE	1543/2727	V515L	GRM8_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000344173	8.24E-06	CCDS5794.1			1	
MOV10	0	LGGM	GRCh37	1	113237429	113237429	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	13	5	.	.	ENST00000413052.2:c.1531G>A	p.Val511Ile	p.V511I	ENST00000413052	NM_001130079.1	511	Gtt/Att	0	1		UPI000012FA84	0	getma.org/pdb.php?prot=MOV10_HUMAN&from=498&to=606&var=V511I	ENST00000357443		ENSG00000155363	7200		18	1.385		HGNC	p.V511I	rs760699545	MOV10	6.06E-05	SNV							ENST00000413052	protein_coding	getma.org/?cm=var&var=hg19,1,113237429,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF13086,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326,Superfamily_domains:SSF52540		V/I		A	low	1699/3383		getma.org/?cm=msa&ty=f&p=MOV10_HUMAN&rb=498&re=606&var=V511I	tolerated(0.16)	Q5JR04_HUMAN,B3KQ43_HUMAN				MOV10,missense_variant,p.Val455Ile,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Val511Ile,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,missense_variant,p.Val511Ile,ENST00000369645,;MOV10,missense_variant,p.Val511Ile,ENST00000357443,;RP11-426L16.3,intron_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_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,;							MODERATE	1531/3012	V511I	MOV10_HUMAN			Transcript		benign(0.201)	.	ENSP00000350028	8.24E-06	CCDS853.1			1	
NEDD4	0	LGGM	GRCh37	15	56122192	56122192	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	7	5	.	.	ENST00000338963.2:c.3647A>G	p.Asn1216Ser	p.N1216S	ENST00000338963	NM_198400.2	1216	aAt/aGt	0	1		UPI00001FE52D	0	getma.org/pdb.php?prot=NEDD4_HUMAN&from=1013&to=1318&var=N1288S	ENST00000508342		ENSG00000069869	7727		12	3.295		HGNC	p.N869S		NEDD4		SNV							ENST00000435532	protein_coding	getma.org/?cm=var&var=hg19,15,56122192,T,C&fts=all		Pfam_domain:PF00632,PROSITE_profiles:PS50237,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF282,SMART_domains:SM00119,Superfamily_domains:SSF56204		N/S		C	medium	4163/7235		getma.org/?cm=msa&ty=f&p=NEDD4_HUMAN&rb=1013&re=1318&var=N1288S	deleterious(0)					NEDD4,missense_variant,p.Asn1288Ser,ENST00000508342,NM_001284338.1;NEDD4,missense_variant,p.Asn1216Ser,ENST00000338963,NM_198400.2;NEDD4,missense_variant,p.Asn1272Ser,ENST00000506154,NM_001284339.1;NEDD4,missense_variant,p.Asn869Ser,ENST00000435532,NM_006154.2;NEDD4,missense_variant,p.Asn879Ser,ENST00000508871,NM_001284340.1;NEDD4,3_prime_UTR_variant,,ENST00000503468,;							MODERATE	3863/3960	N1288S	NEDD4_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000424827		CCDS61644.1			1	
FRMPD3	0	LGGM	GRCh37	X	106788995	106788995	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	23	6	.	.	ENST00000276185.4:c.425C>T	p.Ala142Val	p.A142V	ENST00000276185		142	gCg/gTg	0	1	1	UPI00006C1C33	0	NA	ENST00000276185		ENSG00000147234	29382		29	1.995		HGNC	p.A90V	rs764349957	FRMPD3	0.000111	SNV							ENST00000439554	protein_coding	getma.org/?cm=var&var=hg19,X,106788995,C,T&fts=all		hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF6,Low_complexity_(Seg):seg		A/V		T	medium	425/5433		getma.org/?cm=msa&ty=f&p=FRPD3_HUMAN&rb=129&re=268&var=A142V	deleterious(0)				YES	FRMPD3,missense_variant,p.Ala90Val,ENST00000439554,NM_032428.1;FRMPD3,missense_variant,p.Ala142Val,ENST00000276185,;FRMPD3-AS1,non_coding_transcript_exon_variant,,ENST00000415252,;FRMPD3,non_coding_transcript_exon_variant,,ENST00000477796,;							MODERATE	425/5433	A142V	FRPD3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000276185	1.72E-05				1	
HSD11B1	0	LGGM	GRCh37	1	209879240	209879240	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	62	6	.	.	ENST00000367028.2:c.173G>A	p.Gly58Glu	p.G58E	ENST00000367028	NM_001206741.1	58	gGa/gAa	0	1		UPI000004C796	0	getma.org/pdb.php?prot=DHI1_HUMAN&from=35&to=202&var=G58E	ENST00000367027		ENSG00000117594	5208		68	3.285		HGNC	p.G58E	COSM3482890	HSD11B1		SNV			1			1	ENST00000367028	protein_coding	getma.org/?cm=var&var=hg19,1,209879240,G,A&fts=all		hmmpanther:PTHR24322:SF249,hmmpanther:PTHR24322,Pfam_domain:PF00106,Gene3D:3.40.50.720,Superfamily_domains:SSF51735		G/E		A	medium	270/1319		getma.org/?cm=msa&ty=f&p=DHI1_HUMAN&rb=35&re=202&var=G58E	tolerated(0.12)					HSD11B1,missense_variant,p.Gly58Glu,ENST00000367028,NM_001206741.1;HSD11B1,missense_variant,p.Gly58Glu,ENST00000261465,NM_181755.2;HSD11B1,missense_variant,p.Gly58Glu,ENST00000367027,NM_005525.3;RP1-28O10.1,intron_variant,,ENST00000441672,;					1		MODERATE	173/879	G58E	DHI1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000355994		CCDS1489.1			1	
CFP	0	LGGM	GRCh37	X	47486897	47486897	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	3	6	.	.	ENST00000247153.3:c.547G>A	p.Ala183Thr	p.A183T	ENST00000247153	NM_002621.2	183	Gcc/Acc	0	1	1	UPI0000132325	0	getma.org/pdb.php?prot=PROP_HUMAN&from=140&to=190&var=A183T	ENST00000247153		ENSG00000126759	8864		9	-0.11		HGNC	p.A183T		CFP		SNV			1				ENST00000396992	protein_coding	getma.org/?cm=var&var=hg19,X,47486897,C,T&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,Prints_domain:PR01705,PROSITE_profiles:PS50092,hmmpanther:PTHR22906,SMART_domains:SM00209,Superfamily_domains:SSF82895		A/T		T	neutral	789/1713		getma.org/?cm=msa&ty=f&p=PROP_HUMAN&rb=140&re=190&var=A183T	tolerated(0.42)	E9PAQ1_HUMAN,C9J7V5_HUMAN			YES	CFP,missense_variant,p.Ala183Thr,ENST00000247153,NM_002621.2;CFP,missense_variant,p.Ala183Thr,ENST00000396992,NM_001145252.1;CFP,missense_variant,p.Ala183Thr,ENST00000377005,;CFP,missense_variant,p.Ala48Thr,ENST00000469388,;CFP,downstream_gene_variant,,ENST00000480317,;CFP,non_coding_transcript_exon_variant,,ENST00000485991,;CFP,upstream_gene_variant,,ENST00000478222,;							MODERATE	547/1410	A183T	PROP_HUMAN			Transcript		benign(0.006)	.	ENSP00000247153		CCDS14282.1			1	
KIAA1551	0	LGGM	GRCh37	12	32135438	32135438	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	17	6	.	.	ENST00000312561.4:c.1549G>T	p.Asp517Tyr	p.D517Y	ENST00000312561	NM_018169.3	517	Gac/Tac	0	1	1	UPI0000577B2F	0	NA	ENST00000312561		ENSG00000174718	25559		23	0.695		HGNC	p.D517Y		KIAA1551		SNV							ENST00000381054	protein_coding	getma.org/?cm=var&var=hg19,12,32135438,G,T&fts=all		hmmpanther:PTHR21604		D/Y		T	neutral	1963/6228		getma.org/?cm=msa&ty=f&p=CL035_HUMAN&rb=401&re=600&var=D517Y	deleterious(0.02)	J3KPI3_HUMAN,F5H488_HUMAN			YES	KIAA1551,missense_variant,p.Asp517Tyr,ENST00000312561,NM_018169.3;KIAA1551,missense_variant,p.Asp517Tyr,ENST00000381054,;KIAA1551,downstream_gene_variant,,ENST00000540924,;KIAA1551,intron_variant,,ENST00000535596,;KIAA1551,intron_variant,,ENST00000397578,;KIAA1551,intron_variant,,ENST00000541981,;KIAA1551,upstream_gene_variant,,ENST00000543763,;							MODERATE	1549/5244	D517Y	K1551_HUMAN			Transcript		possibly_damaging(0.742)	.	ENSP00000310338		CCDS8725.2			1	
FAM217A	0	LGGM	GRCh37	6	4069939	4069939	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	40	6	.	.	ENST00000274673.3:c.518T>C	p.Ile173Thr	p.I173T	ENST00000274673	NM_173563.2	173	aTa/aCa	0	1	1	UPI0000160AA7	0	NA	ENST00000274673		ENSG00000145975	21362		46	0.805		HGNC	p.I301T	rs544551216	FAM217A		SNV							ENST00000470599	protein_coding	getma.org/?cm=var&var=hg19,6,4069939,A,G&fts=all	G:0	hmmpanther:PTHR22145,hmmpanther:PTHR22145:SF4		I/T		G	low	922/2265		getma.org/?cm=msa&ty=f&p=F217A_HUMAN&rb=1&re=200&var=I173T	tolerated(0.42)	C9J6U0_HUMAN,C9J5H0_HUMAN	G:0	G:0.001	YES	FAM217A,missense_variant,p.Ile173Thr,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,;	0.000693	G:0.0002					MODERATE	518/1527	I173T	F217A_HUMAN		G:0	Transcript		benign(0.003)	common_variant	ENSP00000274673	4.94E-05	CCDS4489.1		G:0	1	
CD46	0	LGGM	GRCh37	1	207930506	207930506	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	74	6	.	.	ENST00000322875.4:c.245G>C	p.Arg82Pro	p.R82P	ENST00000322875	NM_172359.2	82	cGg/cCg	0	1		UPI0000160DF2	0	getma.org/pdb.php?prot=MCP_HUMAN&from=35&to=94&var=R82P	ENST00000358170		ENSG00000117335	6953		80	-0.145		HGNC	p.R82P		CD46		SNV			1				ENST00000357714	protein_coding	getma.org/?cm=var&var=hg19,1,207930506,G,C&fts=all		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		R/P		C	neutral	401/3371		getma.org/?cm=msa&ty=f&p=MCP_HUMAN&rb=35&re=94&var=R82P	tolerated(0.58)	Q06C42_HUMAN				CD46,missense_variant,p.Arg82Pro,ENST00000358170,NM_002389.4;CD46,missense_variant,p.Arg82Pro,ENST00000367042,NM_172351.2;CD46,missense_variant,p.Arg82Pro,ENST00000367041,NM_172352.2;CD46,missense_variant,p.Arg82Pro,ENST00000322875,NM_172359.2;CD46,missense_variant,p.Arg82Pro,ENST00000361067,;CD46,missense_variant,p.Arg82Pro,ENST00000354848,NM_153826.3;CD46,missense_variant,p.Arg82Pro,ENST00000357714,NM_172353.2;CD46,missense_variant,p.Arg82Pro,ENST00000441839,;CD46,missense_variant,p.Arg82Pro,ENST00000322918,NM_172350.2;CD46,missense_variant,p.Arg82Pro,ENST00000360212,NM_172361.2;CD46,missense_variant,p.Arg82Pro,ENST00000480003,;CD46,intron_variant,,ENST00000367047,;CD46,non_coding_transcript_exon_variant,,ENST00000469535,;CD46,non_coding_transcript_exon_variant,,ENST00000493796,;CD46,upstream_gene_variant,,ENST00000464082,;							MODERATE	245/1179	R82P	MCP_HUMAN			Transcript		benign(0.008)	.	ENSP00000350893		CCDS1485.1			1	
MSH6	0	LGGM	GRCh37	2	48028282	48028282	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	15	6	.	.	ENST00000234420.5:c.3160A>C	p.Ile1054Leu	p.I1054L	ENST00000234420	NM_000179.2	1054	Atc/Ctc	0	1	1	UPI00000405F8	0	getma.org/pdb.php?prot=MSH6_HUMAN&from=737&to=1065&var=I1054L	ENST00000234420		ENSG00000116062	7329		21	0.83		HGNC	p.I1054L		MSH6		SNV			1				ENST00000234420	protein_coding	getma.org/?cm=var&var=hg19,2,48028282,A,C&fts=all		hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,Pfam_domain:PF05192,SMART_domains:SM00533,PIRSF_domain:PIRSF037677,Superfamily_domains:SSF48334		I/L		C	low	3312/7476		getma.org/?cm=msa&ty=f&p=MSH6_HUMAN&rb=737&re=1065&var=I1054L	tolerated(1)	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN			YES	MSH6,missense_variant,p.Ile1054Leu,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Ile752Leu,ENST00000538136,NM_001281494.1;MSH6,missense_variant,p.Ile924Leu,ENST00000540021,NM_001281492.1,NM_001281493.1;FBXO11,intron_variant,,ENST00000405808,;MSH6,downstream_gene_variant,,ENST00000455383,;MSH6,downstream_gene_variant,,ENST00000411819,;MSH6,3_prime_UTR_variant,,ENST00000445503,;FBXO11,intron_variant,,ENST00000434234,;MSH6,downstream_gene_variant,,ENST00000456246,;RPL36AP15,upstream_gene_variant,,ENST00000444514,;							MODERATE	3160/4083	I1054L	MSH6_HUMAN			Transcript		benign(0.016)	.	ENSP00000234420		CCDS1836.1			1	
VPS13B	0	LGGM	GRCh37	8	100155276	100155276	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	51	6	.	.	ENST00000358544.2:c.1726A>T	p.Ser576Cys	p.S576C	ENST00000358544	NM_017890.4	576	Agc/Tgc	0	1	1	UPI00001D2D35	0	NA	ENST00000358544		ENSG00000132549	2183		57	0.695		HGNC	p.S576C		VPS13B		SNV			1				ENST00000355155	protein_coding	getma.org/?cm=var&var=hg19,8,100155276,A,T&fts=all		hmmpanther:PTHR12517,hmmpanther:PTHR12517:SF0		S/C		T	neutral	1837/14094		getma.org/?cm=msa&ty=f&p=VP13B_HUMAN&rb=521&re=720&var=S576C	deleterious(0)				YES	VPS13B,missense_variant,p.Ser576Cys,ENST00000395996,;VPS13B,missense_variant,p.Ser576Cys,ENST00000358544,NM_017890.4;VPS13B,missense_variant,p.Ser576Cys,ENST00000357162,NM_152564.4;VPS13B,missense_variant,p.Ser576Cys,ENST00000355155,NM_015243.2;VPS13B,missense_variant,p.Ser576Cys,ENST00000496144,;							MODERATE	1726/12069	S576C	VP13B_HUMAN			Transcript		benign(0.024)	.	ENSP00000351346		CCDS6280.1			1	
ZFP91	0	LGGM	GRCh37	11	58380277	58380277	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	32	6	.	.	ENST00000316059.6:c.951A>T	p.Gly317=	p.G317=	ENST00000316059	NM_001197051.1	317	ggA/ggT	0	1	1	UPI0000070D45	0		ENST00000316059		ENSG00000186660	14983		38			HGNC	p.G317G		ZFP91		SNV							ENST00000316059	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,PROSITE_patterns:PS00028,hmmpanther:PTHR11389:SF437,hmmpanther:PTHR11389		G		T		1122/5220				B4DIN6_HUMAN			YES	ZFP91,synonymous_variant,p.=,ENST00000316059,NM_001197051.1,NM_053023.4;AP001350.1,upstream_gene_variant,,ENST00000601906,;ZFP91-CNTF,synonymous_variant,p.=,ENST00000389919,;ZFP91-CNTF,synonymous_variant,p.=,ENST00000422974,;							LOW	951/1713		ZFP91_HUMAN			Transcript			.	ENSP00000339030		CCDS31553.1			1	
LRRK2	0	LGGM	GRCh37	12	40681238	40681238	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	9	6	.	.	ENST00000298910.7:c.2586A>G	p.Gly862=	p.G862=	ENST00000298910	NM_198578.3	862	ggA/ggG	0	1	1	UPI00006C128E	0		ENST00000298910		ENSG00000188906	18618		15			HGNC	p.G862G		LRRK2		SNV			1				ENST00000298910	protein_coding			hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF417		G		G		2644/9158							YES	LRRK2,synonymous_variant,p.=,ENST00000298910,NM_198578.3;LRRK2,synonymous_variant,p.=,ENST00000343742,;LRRK2,downstream_gene_variant,,ENST00000416796,;AC084290.2,downstream_gene_variant,,ENST00000434995,;							LOW	2586/7584		LRRK2_HUMAN			Transcript			.	ENSP00000298910		CCDS31774.1			1	
ZNF318	0	LGGM	GRCh37	6	43324970	43324970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	76	7	.	.	ENST00000361428.2:c.1082C>T	p.Ser361Leu	p.S361L	ENST00000361428	NM_014345.2	361	tCg/tTg	0	1	1	UPI000049E044	0	NA	ENST00000361428		ENSG00000171467	13578		83	0.805		HGNC	p.S361L		ZNF318		SNV							ENST00000318149	protein_coding	getma.org/?cm=var&var=hg19,6,43324970,G,A&fts=all		hmmpanther:PTHR15577:SF2,hmmpanther:PTHR15577		S/L		A	low	1160/8006		getma.org/?cm=msa&ty=f&p=ZN318_HUMAN&rb=1&re=1049&var=S361L					YES	ZNF318,missense_variant,p.Ser361Leu,ENST00000361428,NM_014345.2;ZNF318,missense_variant,p.Ser361Leu,ENST00000318149,;ZNF318,missense_variant,p.Ser361Leu,ENST00000605935,;							MODERATE	1082/6840	S361L	ZN318_HUMAN			Transcript		benign(0.112)	.	ENSP00000354964		CCDS4895.2			1	
ZCCHC4	0	LGGM	GRCh37	4	25363544	25363544	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	22	7	.	.	ENST00000302874.4:c.1075C>T	p.Arg359Cys	p.R359C	ENST00000302874	NM_024936.2	359	Cgt/Tgt	0	1	1	UPI0000251F28	0	NA	ENST00000302874		ENSG00000168228	22917		29	2.555		HGNC	p.R359C	rs367583475	ZCCHC4		SNV	T:0						ENST00000302874	protein_coding	getma.org/?cm=var&var=hg19,4,25363544,C,T&fts=all		hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2		R/C	T:0.0001	T	medium	1099/2785		getma.org/?cm=msa&ty=f&p=ZCHC4_HUMAN&rb=348&re=513&var=R359C	deleterious(0)				YES	ZCCHC4,missense_variant,p.Arg359Cys,ENST00000302874,NM_024936.2;ZCCHC4,missense_variant,p.Arg224Cys,ENST00000505412,;ZCCHC4,3_prime_UTR_variant,,ENST00000507760,;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000508058,;							MODERATE	1075/1542	R359C	ZCHC4_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000303468		CCDS43218.1			1	
SDE2	0	LGGM	GRCh37	1	226173155	226173155	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	67	7	.	.	ENST00000272091.7:c.1204G>A	p.Glu402Lys	p.E402K	ENST00000272091	NM_152608.3	402	Gag/Aag	0	1	1	UPI0000204007	0	NA	ENST00000272091		ENSG00000143751	26643		74	2.82		HGNC	p.E307K		SDE2		SNV							ENST00000366817	protein_coding	getma.org/?cm=var&var=hg19,1,226173155,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12786:SF1,hmmpanther:PTHR12786,Pfam_domain:PF13297		E/K		T	medium	1223/3975		getma.org/?cm=msa&ty=f&p=CA055_HUMAN&rb=385&re=444&var=E402K	deleterious(0.01)				YES	SDE2,missense_variant,p.Glu402Lys,ENST00000272091,NM_152608.3;							MODERATE	1204/1356	E402K	SDE2_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000272091		CCDS41473.1			1	
ALG8	0	LGGM	GRCh37	11	77823757	77823757	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	30	7	.	.	ENST00000299626.5:c.837A>T	p.Ala279=	p.A279=	ENST00000299626	NM_024079.4	279	gcA/gcT	0	1	1	UPI000013E5C8	0		ENST00000299626		ENSG00000159063	23161		37			HGNC	p.A279A		ALG8		SNV			1				ENST00000376156	protein_coding			hmmpanther:PTHR12413,hmmpanther:PTHR12413:SF2,Pfam_domain:PF03155		A		A		909/1675				E9PR58_HUMAN,E9PKA5_HUMAN			YES	ALG8,synonymous_variant,p.=,ENST00000376156,NM_001007027.2;ALG8,synonymous_variant,p.=,ENST00000299626,NM_024079.4;ALG8,synonymous_variant,p.=,ENST00000530454,;ALG8,synonymous_variant,p.=,ENST00000525755,;ALG8,synonymous_variant,p.=,ENST00000530608,;ALG8,synonymous_variant,p.=,ENST00000529139,;ALG8,synonymous_variant,p.=,ENST00000532440,;ALG8,synonymous_variant,p.=,ENST00000525783,;ALG8,intron_variant,,ENST00000532306,;ALG8,downstream_gene_variant,,ENST00000527099,;ALG8,downstream_gene_variant,,ENST00000525870,;ALG8,upstream_gene_variant,,ENST00000526849,;ALG8,non_coding_transcript_exon_variant,,ENST00000524925,;ALG8,intron_variant,,ENST00000532552,;ALG8,3_prime_UTR_variant,,ENST00000526737,;ALG8,downstream_gene_variant,,ENST00000532050,;							LOW	837/1581		ALG8_HUMAN			Transcript			.	ENSP00000299626		CCDS8258.1			1	
ARRB2	0	LGGM	GRCh37	17	4622588	4622588	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	20	7	.	.	ENST00000412477.3:c.853T>C	p.Ser285Pro	p.S285P	ENST00000412477		285	Tct/Cct	0	1		UPI000004230A	0	getma.org/pdb.php?prot=ARRB2_HUMAN&from=194&to=349&var=S264P	ENST00000269260		ENSG00000141480	712		27	-0.085		HGNC	p.S72P		ARRB2		SNV							ENST00000572457	protein_coding	getma.org/?cm=var&var=hg19,17,4622588,T,C&fts=all		Gene3D:1g4mB02,Pfam_domain:PF02752,hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF20,SMART_domains:SM01017,Superfamily_domains:SSF81296		S/P		C	neutral	1023/1895		getma.org/?cm=msa&ty=f&p=ARRB2_HUMAN&rb=194&re=349&var=S264P	tolerated(0.41)	Q68DZ5_HUMAN,K7EL17_HUMAN				ARRB2,missense_variant,p.Ser264Pro,ENST00000269260,NM_001257328.1,NM_004313.3,NM_001257330.1;ARRB2,missense_variant,p.Ser285Pro,ENST00000412477,;ARRB2,missense_variant,p.Ser249Pro,ENST00000346341,NM_199004.1,NM_001257331.1;ARRB2,missense_variant,p.Ser72Pro,ENST00000572457,;ARRB2,missense_variant,p.Ser72Pro,ENST00000571206,;ARRB2,missense_variant,p.Ser72Pro,ENST00000574954,;ARRB2,missense_variant,p.Ser249Pro,ENST00000381488,;ARRB2,missense_variant,p.Ser72Pro,ENST00000571428,;ARRB2,splice_region_variant,,ENST00000575877,NM_001257329.1;ARRB2,downstream_gene_variant,,ENST00000570718,;ARRB2,downstream_gene_variant,,ENST00000570739,;ARRB2,3_prime_UTR_variant,,ENST00000576235,;ARRB2,3_prime_UTR_variant,,ENST00000574502,;ARRB2,downstream_gene_variant,,ENST00000571791,;ARRB2,downstream_gene_variant,,ENST00000573886,;ARRB2,downstream_gene_variant,,ENST00000577054,;ARRB2,downstream_gene_variant,,ENST00000575131,;ARRB2,downstream_gene_variant,,ENST00000572782,;ARRB2,downstream_gene_variant,,ENST00000574888,;ARRB2,downstream_gene_variant,,ENST00000572497,;							MODERATE	790/1230	S264P	ARRB2_HUMAN			Transcript		benign(0.007)	.	ENSP00000269260		CCDS11050.1			1	
ANKRD44	0	LGGM	GRCh37	2	198001380	198001380	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	10	7	.	.	ENST00000409919.1:c.197G>A	p.Arg66His	p.R66H	ENST00000409919	NM_153697.2	66	cGt/cAt	0	1		UPI0001AE772B	0	getma.org/pdb.php?prot=ANR44_HUMAN&from=12&to=104&var=R66H	ENST00000282272		ENSG00000065413	25259		17	1.36		HGNC	p.R58H	rs377194538	ANKRD44		SNV	T:0						ENST00000282272	protein_coding	getma.org/?cm=var&var=hg19,2,198001380,C,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158,hmmpanther:PTHR24158:SF19,SMART_domains:SM00248,Superfamily_domains:SSF48403		R/H	T:0.0001	T	low	173/2958	1.50E-05	getma.org/?cm=msa&ty=f&p=ANR44_HUMAN&rb=12&re=104&var=R66H	deleterious(0.01)	Q53T07_HUMAN,J3KN93_HUMAN,C9JY51_HUMAN				ANKRD44,missense_variant,p.Arg41His,ENST00000328737,;ANKRD44,missense_variant,p.Arg41His,ENST00000450567,;ANKRD44,missense_variant,p.Arg41His,ENST00000337207,;ANKRD44,missense_variant,p.Arg58His,ENST00000282272,NM_001195144.1;ANKRD44,missense_variant,p.Arg66His,ENST00000409153,;ANKRD44,missense_variant,p.Arg66His,ENST00000409919,NM_153697.2;ANKRD44,missense_variant,p.Arg41His,ENST00000443014,;ANKRD44,5_prime_UTR_variant,,ENST00000539527,;ANKRD44,missense_variant,p.Val40Met,ENST00000447713,;ANKRD44,non_coding_transcript_exon_variant,,ENST00000463879,;							MODERATE	173/2958	R66H				Transcript		probably_damaging(0.99)	.	ENSP00000282272	8.24E-06				1	
NOP14	0	LGGM	GRCh37	4	2956156	2956156	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	66	7	.	.	ENST00000416614.2:c.607G>C	p.Glu203Gln	p.E203Q	ENST00000416614		203	Gag/Cag	0	1		UPI00001A9472	0	NA	ENST00000314262		ENSG00000087269	16821		73	1.77		HGNC	p.E203Q		NOP14		SNV							ENST00000502735	protein_coding	getma.org/?cm=var&var=hg19,4,2956156,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23183:SF0,hmmpanther:PTHR23183,Pfam_domain:PF04147		E/Q		G	low	656/2889		getma.org/?cm=msa&ty=f&p=NOP14_HUMAN&rb=10&re=847&var=E203Q	tolerated(0.07)					NOP14,missense_variant,p.Glu203Gln,ENST00000416614,;NOP14,missense_variant,p.Glu203Gln,ENST00000314262,NM_003703.1;NOP14,missense_variant,p.Glu203Gln,ENST00000502735,;NOP14,missense_variant,p.Glu203Gln,ENST00000398071,;NOP14-AS1,intron_variant,,ENST00000503709,;NOP14-AS1,downstream_gene_variant,,ENST00000515194,;							MODERATE	607/2574	E203Q	NOP14_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000315674		CCDS33945.1			1	
UBE2R2	0	LGGM	GRCh37	9	33917126	33917126	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	26	7	.	.	ENST00000263228.3:c.608C>G	p.Ser203Ter	p.S203*	ENST00000263228	NM_017811.3	203	tCa/tGa	0	1	1	UPI0000000C64	0	NA	ENST00000263228		ENSG00000107341	19907		33	0		HGNC	p.S203X		UBE2R2		SNV							ENST00000263228	protein_coding	getma.org/?cm=var&var=hg19,9,33917126,C,G&fts=all		hmmpanther:PTHR24067:SF96,hmmpanther:PTHR24067,Gene3D:3.10.110.10		S/*		G	NA	799/4075		NA					YES	UBE2R2,stop_gained,p.Ser203Ter,ENST00000263228,NM_017811.3;UBAP2,downstream_gene_variant,,ENST00000379238,;UBAP2,downstream_gene_variant,,ENST00000360802,NM_018449.2;UBAP2,downstream_gene_variant,,ENST00000449054,;UBAP2,downstream_gene_variant,,ENST00000379235,;							HIGH	608/717	S203*	UB2R2_HUMAN			Transcript			.	ENSP00000263228		CCDS6546.1			1	
RYR2	0	LGGM	GRCh37	1	237947540	237947540	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	175	7	.	.	ENST00000366574.2:c.12528G>A	p.Val4176=	p.V4176=	ENST00000366574	NM_001035.2	4176	gtG/gtA	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		182			HGNC	p.V4160V		RYR2		SNV			1				ENST00000542537	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		V		A		12845/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	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,;							LOW	12528/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
ADAMTS8	0	LGGM	GRCh37	11	130278672	130278672	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	47	8	.	.	ENST00000257359.6:c.1914C>T	p.Phe638=	p.F638=	ENST00000257359	NM_007037.4	638	ttC/ttT	0	1	1	UPI000013CF5D	0		ENST00000257359		ENSG00000134917	224		55			HGNC	p.F638F	rs760759970,COSM1352607,COSM1352605,COSM1352606	ADAMTS8		SNV						0,1,1,1	ENST00000257359	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF41		F		A		2621/4010	3.00E-05						YES	ADAMTS8,synonymous_variant,p.=,ENST00000257359,NM_007037.4;ADAMTS8,non_coding_transcript_exon_variant,,ENST00000531752,;					0,1,1,1		LOW	1914/2670		ATS8_HUMAN			Transcript			.	ENSP00000257359	1.65E-05	CCDS41732.1			1	
WDR37	0	LGGM	GRCh37	10	1170186	1170186	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	12	8	.	.	ENST00000358220.1:c.1132G>A	p.Gly378Arg	p.G378R	ENST00000358220		378	Gga/Aga	0	1		UPI000013D3B7	0	getma.org/pdb.php?prot=WDR37_HUMAN&from=358&to=394&var=G378R	ENST00000263150		ENSG00000047056	31406		20	1.415		HGNC	p.G378R	rs773537662	WDR37		SNV							ENST00000358220	protein_coding	getma.org/?cm=var&var=hg19,10,1170186,G,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19855,hmmpanther:PTHR19855:SF12,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/R		A	low	1283/4462	3.00E-05	getma.org/?cm=msa&ty=f&p=WDR37_HUMAN&rb=358&re=394&var=G378R	tolerated(0.1)	A8K976_HUMAN				WDR37,missense_variant,p.Gly378Arg,ENST00000358220,;WDR37,missense_variant,p.Gly378Arg,ENST00000263150,NM_014023.3;WDR37,non_coding_transcript_exon_variant,,ENST00000482165,;							MODERATE	1132/1485	G378R	WDR37_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263150	1.65E-05	CCDS7057.1			1	
POU4F3	0	LGGM	GRCh37	5	145719257	145719257	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	42	8	.	.	ENST00000230732.4:c.267G>A	p.Thr89=	p.T89=	ENST00000230732	NM_002700.2	89	acG/acA	0	1	1	UPI0000131D91	0		ENST00000230732		ENSG00000091010	9220		50			HGNC	p.T89T	rs747345533	POU4F3		SNV			1				ENST00000230732	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF43		T		A		356/1182							YES	POU4F3,synonymous_variant,p.=,ENST00000230732,NM_002700.2;RBM27,downstream_gene_variant,,ENST00000506502,;CTC-359M8.1,intron_variant,,ENST00000515598,;							LOW	267/1017		PO4F3_HUMAN			Transcript			.	ENSP00000230732		CCDS4281.1			1	
SIPA1	0	LGGM	GRCh37	11	65417946	65417948	+	inframe_deletion,splice_region_variant	In_Frame_Del	DEL	AGA	AGA	-	novel	by Submitter	H110180	H110180N.bam	AGA	AGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	15	8	.	.	ENST00000394224.3:c.2980_2982del	p.Lys994del	p.K994del	ENST00000394224	NM_153253.29	993	cAGAag/cag	0	1	1	UPI0000135D8A	0		ENST00000394224		ENSG00000213445	10885		23			HGNC	p.891_892del		SIPA1		deletion							ENST00000527525	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF14,Superfamily_domains:SSF90257		QK/Q		-		3274-3276/3628				E9PIB3_HUMAN			YES	SIPA1,inframe_deletion,p.Lys994del,ENST00000394224,NM_153253.29;SIPA1,inframe_deletion,p.Lys994del,ENST00000534313,NM_006747.3;SIPA1,inframe_deletion,p.Lys892del,ENST00000527525,;SIPA1,inframe_deletion,p.Lys892del,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;RELA,downstream_gene_variant,,ENST00000532999,;MIR4489,downstream_gene_variant,,ENST00000578869,;SIPA1,splice_region_variant,,ENST00000528699,;SIPA1,splice_region_variant,,ENST00000529725,;SIPA1,non_coding_transcript_exon_variant,,ENST00000531339,;RELA,downstream_gene_variant,,ENST00000531484,;RELA,downstream_gene_variant,,ENST00000526283,;SIPA1,downstream_gene_variant,,ENST00000530226,;							MODERATE	2978-2980/3129		SIPA1_HUMAN			Transcript	2		.	ENSP00000377771		CCDS8108.1			1	
PEAK1	0	LGGM	GRCh37	15	77406547	77406547	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	32	8	.	.	ENST00000560626.2:c.5192C>T	p.Ala1731Val	p.A1731V	ENST00000560626		1731	gCc/gTc	0	1		UPI00002378D0	0	NA	ENST00000312493		ENSG00000173517	29431		40	2.28		HGNC	p.A1731V		PEAK1		SNV							ENST00000312493	protein_coding	getma.org/?cm=var&var=hg19,15,77406547,G,A&fts=all		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5		A/V		A	medium	5471/11547		getma.org/?cm=msa&ty=f&p=PEAK1_HUMAN&rb=1667&re=1744&var=A1731V	tolerated(0.07)	H3BUZ5_HUMAN,H3BUE6_HUMAN				PEAK1,missense_variant,p.Ala1731Val,ENST00000560626,;PEAK1,missense_variant,p.Ala1731Val,ENST00000312493,NM_024776.3;							MODERATE	5192/5241	A1731V	PEAK1_HUMAN			Transcript		benign(0.023)	.	ENSP00000309230		CCDS42062.1			1	
TSPAN5	0	LGGM	GRCh37	4	99393725	99393725	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	12	9	.	.	ENST00000305798.3:c.755G>A	p.Cys252Tyr	p.C252Y	ENST00000305798	NM_005723.3	252	tGc/tAc	0	1	1	UPI0000022DE0	0	NA	ENST00000305798		ENSG00000168785	17753		21	0.89		HGNC	p.C252Y		TSPAN5		SNV							ENST00000305798	protein_coding	getma.org/?cm=var&var=hg19,4,99393725,C,T&fts=all		Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Prints_domain:PR00259,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF63,Transmembrane_helices:TMhelix		C/Y		T	low	1158/3365		getma.org/?cm=msa&ty=f&p=TSN5_HUMAN&rb=14&re=261&var=C252Y	tolerated(0.29)	D6RGZ7_HUMAN,D6R9N6_HUMAN,B7Z317_HUMAN			YES	TSPAN5,missense_variant,p.Cys252Tyr,ENST00000305798,NM_005723.3;TSPAN5,missense_variant,p.Cys181Tyr,ENST00000505184,;TSPAN5,3_prime_UTR_variant,,ENST00000508798,;TSPAN5,non_coding_transcript_exon_variant,,ENST00000511753,;							MODERATE	755/807	C252Y	TSN5_HUMAN			Transcript		benign(0.414)	.	ENSP00000307701		CCDS3646.1			1	
COL6A5	0	LGGM	GRCh37	3	130174432	130174432	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	28	9	.	.	ENST00000265379.6:c.6712C>G	p.Gln2238Glu	p.Q2238E	ENST00000265379	NM_001278298.1	2238	Caa/Gaa	0	1		UPI00015E564F	0	NA	ENST00000312481		ENSG00000172752	26674		37	1.78		HGNC	p.Q2238E		COL6A5		SNV							ENST00000265379	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,3,130174432,C,G&fts=all				Q/E		G	low	7206/9226		getma.org/?cm=msa&ty=f&p=CO6A5_HUMAN&rb=2142&re=2290&var=Q2238E	tolerated(0.09)					COL6A5,missense_variant,p.Gln2238Glu,ENST00000265379,NM_001278298.1;COL6A5,missense_variant,p.Gln2238Glu,ENST00000432398,NM_153264.6;COL6A5,missense_variant,p.Gln490Glu,ENST00000512836,;COL6A5,missense_variant,p.Gln73Glu,ENST00000512482,;COL6A5,missense_variant,p.Gln181Glu,ENST00000373157,;COL6A5,missense_variant,p.Gln2238Glu,ENST00000312481,;							MODERATE	6712/7848	Q2238E	CO6A5_HUMAN			Transcript		benign(0.004)	.	ENSP00000309762					1	
ZIC1	0	LGGM	GRCh37	3	147130449	147130449	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	36	9	.	.	ENST00000282928.4:c.1127C>T	p.Ser376Leu	p.S376L	ENST00000282928	NM_003412.3	376	tCg/tTg	0	1	1	UPI000013DD09	0	getma.org/pdb.php?prot=ZIC1_HUMAN&from=362&to=384&var=S376L	ENST00000282928		ENSG00000152977	12872		45	1.285		HGNC	p.S376L	COSM4114286	ZIC1		SNV			1			1	ENST00000282928	protein_coding	getma.org/?cm=var&var=hg19,3,147130449,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF26,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/L		T	low	1856/5241		getma.org/?cm=msa&ty=f&p=ZIC1_HUMAN&rb=342&re=404&var=S376L	deleterious(0)				YES	ZIC1,missense_variant,p.Ser376Leu,ENST00000282928,NM_003412.3;ZIC1,missense_variant,p.Ser65Leu,ENST00000488404,;ZIC1,intron_variant,,ENST00000472523,;					1		MODERATE	1127/1344	S376L	ZIC1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000282928		CCDS3136.1			1	
KSR2	0	LGGM	GRCh37	12	118112123	118112123	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	58	10	.	.	ENST00000339824.5:c.987-6660G>A		*329*	ENST00000339824				0	1	1	UPI000152636C	0		ENST00000339824		ENSG00000171435	18610		68			HGNC	p.E14E	rs747729118	KSR2		SNV							ENST00000302438	protein_coding							T		-/4429				E9PB13_HUMAN			YES	KSR2,synonymous_variant,p.=,ENST00000302438,;KSR2,intron_variant,,ENST00000425217,NM_173598.4;KSR2,intron_variant,,ENST00000339824,;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;	0.00138						MODIFIER	-/2853		KSR2_HUMAN			Transcript			common_variant	ENSP00000339952	7.46E-05				1	
PKN3	0	LGGM	GRCh37	9	131480838	131480838	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	19	11	.	.	ENST00000291906.4:c.2059T>A	p.Leu687Met	p.L687M	ENST00000291906	NM_013355.3	687	Ttg/Atg	0	1	1	UPI000013E087	0	getma.org/pdb.php?prot=PKN3_HUMAN&from=559&to=818&var=L687M	ENST00000291906		ENSG00000160447	17999		30	2.145		HGNC	p.L687M		PKN3		SNV							ENST00000291906	protein_coding	getma.org/?cm=var&var=hg19,9,131480838,T,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:1.10.510.10,PROSITE_patterns:PS00108,hmmpanther:PTHR24357:SF53,hmmpanther:PTHR24357,PROSITE_profiles:PS50011		L/M		A	medium	2452/3375		getma.org/?cm=msa&ty=f&p=PKN3_HUMAN&rb=559&re=818&var=L687M	deleterious(0.01)	Q05BU1_HUMAN			YES	PKN3,missense_variant,p.Leu687Met,ENST00000291906,NM_013355.3;ZDHHC12,downstream_gene_variant,,ENST00000372667,;ZDHHC12,downstream_gene_variant,,ENST00000372663,NM_032799.4;ZDHHC12,downstream_gene_variant,,ENST00000372672,;ZDHHC12,downstream_gene_variant,,ENST00000406904,;ZDHHC12,downstream_gene_variant,,ENST00000452105,;PKN3,non_coding_transcript_exon_variant,,ENST00000485301,;PKN3,intron_variant,,ENST00000483521,;ZDHHC12,downstream_gene_variant,,ENST00000467312,;							MODERATE	2059/2670	L687M	PKN3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000291906		CCDS6908.1			1	
ZFHX2	0	LGGM	GRCh37	14	24003002	24003002	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	78	11	.	.	ENST00000419474.3:c.1533C>T	p.Asp511=	p.D511=	ENST00000419474	NM_033400.2	511	gaC/gaT	0	1	1	UPI000198D01B	0		ENST00000419474		ENSG00000136367	20152		89			HGNC	p.D511D	rs755931087	ZFHX2		SNV							ENST00000560206	protein_coding			hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF86,Gene3D:3.30.160.60,SMART_domains:SM00451,SMART_domains:SM00355,Superfamily_domains:SSF57667		D		A		1889/9180				G3V3N5_HUMAN,C9JSX6_HUMAN			YES	ZFHX2,synonymous_variant,p.=,ENST00000419474,NM_033400.2;ZFHX2,downstream_gene_variant,,ENST00000412565,;ZFHX2,downstream_gene_variant,,ENST00000555334,;RP11-66N24.4,intron_variant,,ENST00000554403,;RP11-66N24.4,intron_variant,,ENST00000553985,;RP11-66N24.4,intron_variant,,ENST00000556354,;							LOW	1533/7719		ZFHX2_HUMAN			Transcript			.	ENSP00000413418	8.59E-06	CCDS55907.1			1	
LPHN3	0	LGGM	GRCh37	4	62936521	62936521	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	21	12	.	.	ENST00000514591.1:c.4305G>A	p.Gln1435=	p.Q1435=	ENST00000514591		1435	caG/caA	0	1	1	UPI00016278EF	0		ENST00000514591		ENSG00000150471	20974		33			HGNC	p.Q1494Q		LPHN3		SNV							ENST00000507625	protein_coding			Pfam_domain:PF02354		Q		A		4634/6297				Q4W5J9_HUMAN,E9PE04_HUMAN			YES	LPHN3,synonymous_variant,p.=,ENST00000514591,;LPHN3,synonymous_variant,p.=,ENST00000545650,NM_015236.4;LPHN3,synonymous_variant,p.=,ENST00000506720,;LPHN3,synonymous_variant,p.=,ENST00000506746,;LPHN3,synonymous_variant,p.=,ENST00000507625,;LPHN3,synonymous_variant,p.=,ENST00000508946,;LPHN3,synonymous_variant,p.=,ENST00000514996,;LPHN3,synonymous_variant,p.=,ENST00000502815,;LPHN3,3_prime_UTR_variant,,ENST00000512091,;LPHN3,3_prime_UTR_variant,,ENST00000509896,;LPHN3,3_prime_UTR_variant,,ENST00000511324,;LPHN3,3_prime_UTR_variant,,ENST00000508693,;LPHN3,3_prime_UTR_variant,,ENST00000507164,;LPHN3,3_prime_UTR_variant,,ENST00000506700,;LPHN3,3_prime_UTR_variant,,ENST00000504896,;LPHN3,3_prime_UTR_variant,,ENST00000514157,;RP11-84A1.3,downstream_gene_variant,,ENST00000506704,;RP11-84A1.3,downstream_gene_variant,,ENST00000504135,;RP11-84A1.3,downstream_gene_variant,,ENST00000509461,;							LOW	4305/4410					Transcript			.	ENSP00000422533		CCDS54768.1			1	
KANK1	0	LGGM	GRCh37	9	712522	712522	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	30	12	.	.	ENST00000382303.1:c.1756G>A	p.Val586Met	p.V586M	ENST00000382303	NM_001256876.1	586	Gtg/Atg	0	1		UPI00001AF26E	0	NA	ENST00000382297		ENSG00000107104	19309		42	1.995		HGNC	p.V586M		KANK1		SNV			1				ENST00000382297	protein_coding	getma.org/?cm=var&var=hg19,9,712522,G,A&fts=all		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF19		V/M		A	medium	1878/5051		getma.org/?cm=msa&ty=f&p=KANK1_HUMAN&rb=301&re=972&var=V586M	deleterious(0.04)	Q8WUM7_HUMAN,Q53U93_HUMAN				KANK1,missense_variant,p.Val586Met,ENST00000382303,NM_001256876.1;KANK1,missense_variant,p.Val428Met,ENST00000382293,NM_153186.4;KANK1,missense_variant,p.Val586Met,ENST00000382297,NM_001256877.1,NM_015158.3;KANK1,non_coding_transcript_exon_variant,,ENST00000489369,;KANK1,non_coding_transcript_exon_variant,,ENST00000354485,;							MODERATE	1756/4059	V586M	KANK1_HUMAN			Transcript		benign(0.08)	.	ENSP00000371734		CCDS34976.1			1	
TMEM87A	0	LGGM	GRCh37	15	42531907	42531907	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	18	12	.	.	ENST00000389834.4:c.645C>T	p.Pro215=	p.P215=	ENST00000389834	NM_015497.3	215	ccC/ccT	0	1	1	UPI0000073A7E	0		ENST00000389834		ENSG00000103978	24522		30			HGNC	p.P74P		TMEM87A		SNV							ENST00000561578	protein_coding			hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF10,Pfam_domain:PF06814		P		A		910/3109				H3BPJ4_HUMAN,H3BMU0_HUMAN,H3BM87_HUMAN			YES	TMEM87A,synonymous_variant,p.=,ENST00000389834,NM_015497.3;TMEM87A,synonymous_variant,p.=,ENST00000448392,NM_001286487.1;TMEM87A,synonymous_variant,p.=,ENST00000568400,;TMEM87A,synonymous_variant,p.=,ENST00000563371,;TMEM87A,synonymous_variant,p.=,ENST00000561578,;TMEM87A,upstream_gene_variant,,ENST00000566014,;TMEM87A,downstream_gene_variant,,ENST00000566474,;TMEM87A,3_prime_UTR_variant,,ENST00000569075,;TMEM87A,non_coding_transcript_exon_variant,,ENST00000562946,;							LOW	645/1668		TM87A_HUMAN			Transcript			.	ENSP00000374484		CCDS32205.1			1	
NAT10	0	LGGM	GRCh37	11	34154595	34154595	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	44	12	.	.	ENST00000257829.3:c.1640T>C	p.Met547Thr	p.M547T	ENST00000257829	NM_024662.2	547	aTg/aCg	0	1	1	UPI000013CF8E	0	getma.org/pdb.php?prot=NAT10_HUMAN&from=528&to=753&var=M547T	ENST00000257829		ENSG00000135372	29830		56	2.8		HGNC	p.M547T		NAT10		SNV							ENST00000257829	protein_coding	getma.org/?cm=var&var=hg19,11,34154595,T,C&fts=all		Pfam_domain:PF13718,hmmpanther:PTHR10925		M/T		C	medium	1846/4002		getma.org/?cm=msa&ty=f&p=NAT10_HUMAN&rb=528&re=753&var=M547T	deleterious(0)	E9PJN6_HUMAN,E7ESU4_HUMAN			YES	NAT10,missense_variant,p.Met547Thr,ENST00000257829,NM_024662.2;NAT10,missense_variant,p.Met475Thr,ENST00000531159,NM_001144030.1;NAT10,intron_variant,,ENST00000527971,;							MODERATE	1640/3078	M547T	NAT10_HUMAN			Transcript		benign(0.314)	.	ENSP00000257829		CCDS7889.1			1	
ZNF555	0	LGGM	GRCh37	19	2850651	2850651	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	77	13	.	.	ENST00000334241.4:c.70G>T	p.Ala24Ser	p.A24S	ENST00000334241	NM_152791.4	24	Gct/Tct	0	1	1	UPI0000203006	0	getma.org/pdb.php?prot=ZN555_HUMAN&from=4&to=44&var=A24S	ENST00000334241		ENSG00000186300	28382		90	0.77		HGNC	p.A24S		ZNF555		SNV							ENST00000334241	protein_coding	getma.org/?cm=var&var=hg19,19,2850651,G,T&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF99,SMART_domains:SM00349		A/S		T	neutral	208/8557		getma.org/?cm=msa&ty=f&p=ZN555_HUMAN&rb=4&re=44&var=A24S	tolerated(1)	K7ENK0_HUMAN			YES	ZNF555,missense_variant,p.Ala24Ser,ENST00000334241,NM_152791.4,NM_001172775.1;ZNF555,missense_variant,p.Ala24Ser,ENST00000591539,;ZNF555,5_prime_UTR_variant,,ENST00000585966,;AC006130.3,intron_variant,,ENST00000589365,;							MODERATE	70/1887	A24S	ZN555_HUMAN			Transcript		benign(0.032)	.	ENSP00000334853		CCDS12096.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H110180	H110180N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	29	19	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		48			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
SYDE2	0	LGGM	GRCh37	1	85648330	85648330	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	33	14	.	.	ENST00000341460.5:c.1995T>C	p.His665=	p.H665=	ENST00000341460	NM_032184.1	665	caT/caC	0	1	1	UPI0001553B04	0		ENST00000341460		ENSG00000097096	25841		47			HGNC	p.H665H		SYDE2		SNV							ENST00000341460	protein_coding			hmmpanther:PTHR23178:SF24,hmmpanther:PTHR23178		H		G		2045/5512							YES	SYDE2,synonymous_variant,p.=,ENST00000341460,NM_032184.1;SYDE2,non_coding_transcript_exon_variant,,ENST00000234668,;							LOW	1995/3585		SYDE2_HUMAN			Transcript			.	ENSP00000340594		CCDS44169.1			1	
SPAG7	0	LGGM	GRCh37	17	4864146	4864146	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	27	15	.	.	ENST00000206020.3:c.88C>T	p.Gln30Ter	p.Q30*	ENST00000206020	NM_004890.2	30	Cag/Tag	0	1	1	UPI000006FBF5	0	NA	ENST00000206020		ENSG00000091640	11216		42	0		HGNC	p.Q30X		SPAG7		SNV							ENST00000206020	protein_coding	getma.org/?cm=var&var=hg19,17,4864146,G,A&fts=all		Superfamily_domains:SSF82708,PIRSF_domain:PIRSF037943,hmmpanther:PTHR13498,Coiled-coils_(Ncoils):Coil		Q/*		A	NA	156/1058		NA		I3L0X5_HUMAN			YES	SPAG7,stop_gained,p.Gln19Ter,ENST00000575142,;SPAG7,stop_gained,p.Gln30Ter,ENST00000206020,NM_004890.2;SPAG7,splice_region_variant,,ENST00000573366,;ENO3,downstream_gene_variant,,ENST00000323997,NM_001976.4,NM_053013.3;ENO3,downstream_gene_variant,,ENST00000518175,;ENO3,downstream_gene_variant,,ENST00000519584,NM_001193503.1;SPAG7,downstream_gene_variant,,ENST00000571023,;SPAG7,stop_gained,p.Gln19Ter,ENST00000575784,;SPAG7,splice_region_variant,,ENST00000573805,;ENO3,downstream_gene_variant,,ENST00000521659,;ENO3,downstream_gene_variant,,ENST00000522954,;ENO3,downstream_gene_variant,,ENST00000522425,;SPAG7,upstream_gene_variant,,ENST00000572148,;							HIGH	88/684	Q30*	SPAG7_HUMAN			Transcript			.	ENSP00000206020		CCDS42240.1			1	
SEL1L3	0	LGGM	GRCh37	4	25849368	25849368	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	92	15	.	.	ENST00000399878.3:c.281G>A	p.Arg94His	p.R94H	ENST00000399878	NM_015187.3	94	cGc/cAc	0	1	1	UPI00001D7736	0	NA	ENST00000399878		ENSG00000091490	29108		107	1.39		HGNC	p.R59H		SEL1L3		SNV							ENST00000264868	protein_coding	getma.org/?cm=var&var=hg19,4,25849368,C,T&fts=all		hmmpanther:PTHR11102,hmmpanther:PTHR11102:SF58		R/H		T	low	404/4514		getma.org/?cm=msa&ty=f&p=SE1L3_HUMAN&rb=1&re=200&var=R94H	tolerated(0.58)	D6RF11_HUMAN,D6RDH1_HUMAN,D6RCE1_HUMAN,B4DTH5_HUMAN			YES	SEL1L3,missense_variant,p.Arg94His,ENST00000399878,NM_015187.3;SEL1L3,missense_variant,p.Arg59His,ENST00000264868,;SEL1L3,5_prime_UTR_variant,,ENST00000502949,;SEL1L3,5_prime_UTR_variant,,ENST00000513691,;SEL1L3,5_prime_UTR_variant,,ENST00000514872,;SEL1L3,5_prime_UTR_variant,,ENST00000510880,;SEL1L3,intron_variant,,ENST00000513364,;							MODERATE	281/3399	R94H	SE1L3_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000382767		CCDS47037.1			1	
DCLK3	0	LGGM	GRCh37	3	36780107	36780107	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	57	15	.	.	ENST00000416516.2:c.44T>A	p.Val15Glu	p.V15E	ENST00000416516	NM_033403.1	15	gTa/gAa	0	1	1	UPI0000E2657D	0	NA	ENST00000416516		ENSG00000163673	19005		72	0		HGNC	p.V15E		DCLK3		SNV							ENST00000416516	protein_coding	getma.org/?cm=var&var=hg19,3,36780107,A,T&fts=all				V/E		T	neutral	535/5344		getma.org/?cm=msa&ty=f&p=DCLK3_HUMAN&rb=1&re=31&var=V15E	deleterious(0)	B3KVM3_HUMAN			YES	DCLK3,missense_variant,p.Val15Glu,ENST00000416516,NM_033403.1;							MODERATE	44/1947	V15E	DCLK3_HUMAN			Transcript		benign(0.145)	.	ENSP00000394484		CCDS43064.1			1	
SPESP1	0	LGGM	GRCh37	15	69238487	69238487	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	43	15	.	.	ENST00000310673.3:c.614A>T	p.Glu205Val	p.E205V	ENST00000310673	NM_145658.3	205	gAa/gTa	0	1	1	UPI0000072E8F	0	NA	ENST00000310673		ENSG00000258484	15570		58	0.695		HGNC	p.E205V		SPESP1		SNV							ENST00000310673	protein_coding	getma.org/?cm=var&var=hg19,15,69238487,A,T&fts=all		hmmpanther:PTHR31667,hmmpanther:PTHR31667:SF2		E/V		T	neutral	768/1431		getma.org/?cm=msa&ty=f&p=SPESP_HUMAN&rb=1&re=333&var=E205V	deleterious(0.03)				YES	SPESP1,missense_variant,p.Glu205Val,ENST00000310673,NM_145658.3;NOX5,intron_variant,,ENST00000260364,;NOX5,intron_variant,,ENST00000448182,;NOX5,intron_variant,,ENST00000455873,NM_001184780.1;SPESP1,downstream_gene_variant,,ENST00000560188,;SPESP1,downstream_gene_variant,,ENST00000561467,;RP11-809H16.2,intron_variant,,ENST00000557966,;							MODERATE	614/1053	E205V	SPESP_HUMAN			Transcript		benign(0.339)	.	ENSP00000312284		CCDS10230.1			1	
DDB1	0	LGGM	GRCh37	11	61079504	61079504	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	60	15	.	.	ENST00000301764.7:c.2122C>T	p.Gln708Ter	p.Q708*	ENST00000301764	NM_001923.4	708	Cag/Tag	0	1	1	UPI0000000CB7	0	NA	ENST00000301764		ENSG00000167986	2717		75	0		HGNC	p.Q708X		DDB1		SNV							ENST00000540166	protein_coding	getma.org/?cm=var&var=hg19,11,61079504,G,A&fts=all		hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF3		Q/*		A	NA	2520/4506		NA		F8WF81_HUMAN,F5H775_HUMAN,F5H6C5_HUMAN,F5H581_HUMAN,F5H2L3_HUMAN,F5H0Y5_HUMAN,F5GZY8_HUMAN,F5GZ34_HUMAN,F5GYG8_HUMAN			YES	DDB1,stop_gained,p.Gln708Ter,ENST00000301764,NM_001923.4;DDB1,stop_gained,p.Gln175Ter,ENST00000535147,;DDB1,intron_variant,,ENST00000450997,;DDB1,intron_variant,,ENST00000543658,;DDB1,upstream_gene_variant,,ENST00000539332,;DDB1,downstream_gene_variant,,ENST00000539739,;DDB1,downstream_gene_variant,,ENST00000535967,;DDB1,downstream_gene_variant,,ENST00000537877,;DDB1,downstream_gene_variant,,ENST00000535174,;DDB1,downstream_gene_variant,,ENST00000545930,;DDB1,downstream_gene_variant,,ENST00000538280,;DDB1,stop_gained,p.Gln708Ter,ENST00000540166,;DDB1,downstream_gene_variant,,ENST00000414411,;DDB1,downstream_gene_variant,,ENST00000540784,;							HIGH	2122/3423	Q708*	DDB1_HUMAN			Transcript			.	ENSP00000301764		CCDS31576.1			1	
ALOX12B	0	LGGM	GRCh37	17	7978965	7978965	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	47	16	.	.	ENST00000319144.4:c.1602G>A	p.Gln534=	p.Q534=	ENST00000319144	NM_001139.2	534	caG/caA	0	1	1	UPI000000D996	0		ENST00000319144		ENSG00000179477	430		63			HGNC	p.Q534Q		ALOX12B		SNV			1				ENST00000319144	protein_coding			PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:1.20.245.10,Superfamily_domains:SSF48484		Q		T		1863/2502							YES	ALOX12B,synonymous_variant,p.=,ENST00000319144,NM_001139.2;AC129492.6,upstream_gene_variant,,ENST00000399413,;ALOX12B,intron_variant,,ENST00000577351,;ALOX12B,downstream_gene_variant,,ENST00000583276,;ALOX12B,downstream_gene_variant,,ENST00000584116,;							LOW	1602/2106		LX12B_HUMAN			Transcript			.	ENSP00000315167		CCDS11129.1			1	
TARBP1	0	LGGM	GRCh37	1	234528207	234528207	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	130	16	.	.	ENST00000040877.1:c.4652A>T	p.Asp1551Val	p.D1551V	ENST00000040877	NM_005646.3	1551	gAc/gTc	0	1	1	UPI000006DB0F	0	getma.org/pdb.php?prot=TARB1_HUMAN&from=1463&to=1606&var=D1551V	ENST00000040877		ENSG00000059588	11568		146	0.975		HGNC	p.D1551V		TARBP1		SNV							ENST00000040877	protein_coding	getma.org/?cm=var&var=hg19,1,234528207,T,A&fts=all		Gene3D:3.40.1280.10,Pfam_domain:PF00588,PROSITE_profiles:PS51624,hmmpanther:PTHR12029,hmmpanther:PTHR12029:SF11,Superfamily_domains:SSF75217		D/V		A	low	4652/5130		getma.org/?cm=msa&ty=f&p=TARB1_HUMAN&rb=1463&re=1606&var=D1551V	deleterious(0)				YES	TARBP1,missense_variant,p.Asp1551Val,ENST00000040877,NM_005646.3;TARBP1,non_coding_transcript_exon_variant,,ENST00000483404,;TARBP1,non_coding_transcript_exon_variant,,ENST00000462259,;TARBP1,non_coding_transcript_exon_variant,,ENST00000496673,;TARBP1,non_coding_transcript_exon_variant,,ENST00000471918,;							MODERATE	4652/4866	D1551V	TARB1_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000040877		CCDS1601.1			1	
DNASE1L3	0	LGGM	GRCh37	3	58193965	58193965	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	27	18	.	.	ENST00000318316.3:c.210A>G	p.Ile70Met	p.I70M	ENST00000318316		70	atA/atG	0	1		UPI0000129890	0	getma.org/pdb.php?prot=DNSL3_HUMAN&from=24&to=274&var=I70M	ENST00000394549		ENSG00000163687	2959		45	0.345		HGNC	p.I70M		DNASE1L3		SNV			1				ENST00000461914	protein_coding	getma.org/?cm=var&var=hg19,3,58193965,T,C&fts=all		Gene3D:3.60.10.10,Pfam_domain:PF03372,PIRSF_domain:PIRSF000988,hmmpanther:PTHR11371,hmmpanther:PTHR11371:SF21,SMART_domains:SM00476,Superfamily_domains:SSF56219		I/M		C	neutral	527/1294		getma.org/?cm=msa&ty=f&p=DNSL3_HUMAN&rb=24&re=274&var=I70M	tolerated(0.4)	C9J9N0_HUMAN,C9J0L2_HUMAN				DNASE1L3,missense_variant,p.Ile70Met,ENST00000483681,;DNASE1L3,missense_variant,p.Ile70Met,ENST00000318316,;DNASE1L3,missense_variant,p.Ile70Met,ENST00000486455,NM_001256560.1;DNASE1L3,missense_variant,p.Ile70Met,ENST00000394549,NM_004944.3;DNASE1L3,missense_variant,p.Ile70Met,ENST00000460422,;DNASE1L3,missense_variant,p.Ile70Met,ENST00000461914,;DNASE1L3,upstream_gene_variant,,ENST00000477209,;DNASE1L3,non_coding_transcript_exon_variant,,ENST00000463694,;							MODERATE	210/918	I70M	DNSL3_HUMAN			Transcript		benign(0.004)	.	ENSP00000378053		CCDS2886.1			1	
GRIN3A	0	LGGM	GRCh37	9	104433083	104433083	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	21	18	.	.	ENST00000361820.3:c.1611C>G	p.Cys537Trp	p.C537W	ENST00000361820	NM_133445.2	537	tgC/tgG	0	1	1	UPI0000367661	0	getma.org/pdb.php?prot=NMD3A_HUMAN&from=401&to=562&var=C537W	ENST00000361820		ENSG00000198785	16767		39	2.61		HGNC	p.C537W		GRIN3A		SNV							ENST00000361820	protein_coding	getma.org/?cm=var&var=hg19,9,104433083,G,C&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF163		C/W		C	medium	2212/7770		getma.org/?cm=msa&ty=f&p=NMD3A_HUMAN&rb=401&re=562&var=C537W	deleterious(0)				YES	GRIN3A,missense_variant,p.Cys537Trp,ENST00000361820,NM_133445.2;							MODERATE	1611/3348	C537W	NMD3A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355155		CCDS6758.1			1	
HNRNPA3	0	LGGM	GRCh37	2	178080559	178080559	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	14	18	.	.	ENST00000392524.2:c.277A>G	p.Met93Val	p.M93V	ENST00000392524		93	Atg/Gtg	0	1	1	UPI00001BE8DE	0	getma.org/pdb.php?prot=ROA3_HUMAN&from=37&to=106&var=M93V	ENST00000392524		ENSG00000170144	24941		32	-0.63		HGNC	p.M93V		HNRNPA3		SNV							ENST00000435711	protein_coding	getma.org/?cm=var&var=hg19,2,178080559,A,G&fts=all		Superfamily_domains:SSF54928,SMART_domains:SM00360,Pfam_domain:PF14259,Gene3D:3.30.70.330,hmmpanther:PTHR24012:SF284,hmmpanther:PTHR24012,PROSITE_profiles:PS50102		M/V		G	neutral	514/2067		getma.org/?cm=msa&ty=f&p=ROA3_HUMAN&rb=37&re=106&var=M93V	tolerated(0.05)	Q8NFG3_HUMAN			YES	HNRNPA3,missense_variant,p.Met71Val,ENST00000411529,NM_194247.2;HNRNPA3,missense_variant,p.Met93Val,ENST00000392524,;HNRNPA3,missense_variant,p.Met93Val,ENST00000435711,;HNRNPA3,upstream_gene_variant,,ENST00000432457,;MIR4444-2,downstream_gene_variant,,ENST00000581696,;AC079305.8,upstream_gene_variant,,ENST00000455416,;HNRNPA3,upstream_gene_variant,,ENST00000483137,;							MODERATE	277/1137	M93V	ROA3_HUMAN			Transcript		benign(0.034)	.	ENSP00000376309		CCDS2273.1			1	
AP2A2	0	LGGM	GRCh37	11	977201	977201	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	21	18	.	.	ENST00000448903.2:c.580C>G	p.His194Asp	p.H194D	ENST00000448903	NM_012305.3	194	Cac/Gac	0	1	1	UPI0000124FF5	0	getma.org/pdb.php?prot=AP2A2_HUMAN&from=29&to=590&var=H194D	ENST00000448903		ENSG00000183020	562		39	1.8		HGNC	p.H194D		AP2A2		SNV							ENST00000332231	protein_coding	getma.org/?cm=var&var=hg19,11,977201,C,G&fts=all		hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371		H/D		G	low	721/4575		getma.org/?cm=msa&ty=f&p=AP2A2_HUMAN&rb=29&re=590&var=H194D	tolerated(0.08)	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN			YES	AP2A2,missense_variant,p.His194Asp,ENST00000448903,NM_012305.3,NM_001242837.1;AP2A2,missense_variant,p.His194Asp,ENST00000332231,;AP2A2,missense_variant,p.His194Asp,ENST00000534328,;AP2A2,missense_variant,p.His184Asp,ENST00000534485,;AP2A2,missense_variant,p.His34Asp,ENST00000525796,;AP2A2,downstream_gene_variant,,ENST00000524559,;AP2A2,downstream_gene_variant,,ENST00000531548,;AP2A2,downstream_gene_variant,,ENST00000527024,;AP2A2,intron_variant,,ENST00000528195,;AP2A2,downstream_gene_variant,,ENST00000529818,;AP2A2,missense_variant,p.His194Asp,ENST00000528815,;							MODERATE	580/2820	H194D	AP2A2_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000413234		CCDS44512.1			1	
GPR21	0	LGGM	GRCh37	9	125797693	125797693	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	21	19	.	.	ENST00000373642.1:c.848G>A	p.Arg283His	p.R283H	ENST00000373642	NM_005294.2	283	cGc/cAc	0	1	1	UPI00000315CA	0	getma.org/pdb.php?prot=GPR21_HUMAN&from=45&to=304&var=R283H	ENST00000373642		ENSG00000188394	4476	0.000173	40	1.28		HGNC	p.R283H	rs780216187	GPR21		SNV							ENST00000373642	protein_coding	getma.org/?cm=var&var=hg19,9,125797693,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF252,Superfamily_domains:SSF81321		R/H		A	low	888/1170	1.50E-05	getma.org/?cm=msa&ty=f&p=GPR21_HUMAN&rb=45&re=304&var=R283H	tolerated(0.19)	H9NIL4_HUMAN			YES	GPR21,missense_variant,p.Arg283His,ENST00000373642,NM_005294.2;RABGAP1,intron_variant,,ENST00000373647,NM_012197.3;RABGAP1,intron_variant,,ENST00000373643,;RABGAP1,intron_variant,,ENST00000493854,;RABGAP1,intron_variant,,ENST00000475607,;RABGAP1,downstream_gene_variant,,ENST00000468760,;RABGAP1,intron_variant,,ENST00000456584,;							MODERATE	848/1050	R283H	GPR21_HUMAN			Transcript		benign(0.003)	.	ENSP00000362746	2.47E-05	CCDS6849.1			1	
ZFPM2	0	LGGM	GRCh37	8	106813590	106813590	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110180	H110180N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	178	19	.	.	ENST00000407775.2:c.1280T>C	p.Met427Thr	p.M427T	ENST00000407775	NM_012082.3	427	aTg/aCg	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		197	-0.345		HGNC	p.M295T		ZFPM2		SNV			1				ENST00000520492	protein_coding	getma.org/?cm=var&var=hg19,8,106813590,T,C&fts=all		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5		M/T		C	neutral	1530/4700		getma.org/?cm=msa&ty=f&p=FOG2_HUMAN&rb=321&re=520&var=M427T	tolerated(0.49)	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,missense_variant,p.Met427Thr,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Met295Thr,ENST00000520492,;ZFPM2,missense_variant,p.Met295Thr,ENST00000517361,;ZFPM2,missense_variant,p.Met158Thr,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							MODERATE	1280/3456	M427T	FOG2_HUMAN			Transcript		benign(0.001)	.	ENSP00000384179		CCDS47908.1			1	
APOC4	0	LGGM	GRCh37	19	45448526	45448526	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	75	19	.	.	ENST00000419266.2:c.348C>T	p.Cys116=	p.C116=	ENST00000419266		116	tgC/tgT	0	1		UPI0000125C2A	0		ENST00000592954		ENSG00000267467	611	8.67E-05	94			HGNC	p.C116C	rs770516305	APOC4		SNV				9.74E-05			ENST00000419266	protein_coding			hmmpanther:PTHR32288,Pfam_domain:PF15119		C		T		388/615				K7EMC3_HUMAN				APOC4,synonymous_variant,p.=,ENST00000419266,;APOC4,synonymous_variant,p.=,ENST00000592954,NM_001646.2;APOC4-APOC2,intron_variant,,ENST00000589057,;APOC2,upstream_gene_variant,,ENST00000585786,;APOC2,upstream_gene_variant,,ENST00000590360,;APOC2,upstream_gene_variant,,ENST00000252490,NM_000483.4;APOC2,upstream_gene_variant,,ENST00000591597,;APOC2,upstream_gene_variant,,ENST00000592257,;CTB-129P6.11,downstream_gene_variant,,ENST00000591646,;APOC4,downstream_gene_variant,,ENST00000591600,;APOC4-APOC2,synonymous_variant,p.=,ENST00000585685,;							LOW	348/384		APOC4_HUMAN			Transcript			.	ENSP00000468236	1.65E-05	CCDS12649.1			1	
FRYL	0	LGGM	GRCh37	4	48582947	48582947	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	37	21	.	.	ENST00000358350.4:c.2194G>A	p.Asp732Asn	p.D732N	ENST00000358350	NM_015030.1	732	Gat/Aat	0	1	1	UPI0000EBC149	0	NA	ENST00000358350		ENSG00000075539	29127		58	2.49		HGNC	p.D732N		FRYL		SNV							ENST00000537810	protein_coding	getma.org/?cm=var&var=hg19,4,48582947,C,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR12295:SF9,hmmpanther:PTHR12295		D/N		T	medium	2799/11706		getma.org/?cm=msa&ty=f&p=FRYL_HUMAN&rb=650&re=849&var=D732N	deleterious(0)				YES	FRYL,missense_variant,p.Asp732Asn,ENST00000358350,NM_015030.1;FRYL,missense_variant,p.Asp732Asn,ENST00000537810,;FRYL,missense_variant,p.Asp732Asn,ENST00000503238,;FRYL,missense_variant,p.Asp732Asn,ENST00000507711,;FRYL,missense_variant,p.Asp438Asn,ENST00000506685,;FRYL,5_prime_UTR_variant,,ENST00000264319,;							MODERATE	2194/9042	D732N	FRYL_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000351113		CCDS43227.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H110180	H110180N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	39	21	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			60		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
ARL1	0	LGGM	GRCh37	12	101790197	101790197	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	88	22	.	.	ENST00000261636.8:c.495C>T	p.Gly165=	p.G165=	ENST00000261636	NM_001177.4	165	ggC/ggT	0	1	1	UPI0000125EE1	0		ENST00000261636		ENSG00000120805	692		110			HGNC	p.G165G		ARL1		SNV							ENST00000551671	protein_coding			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		G		A		670/3241				F8W1Z8_HUMAN,B4DWW1_HUMAN			YES	ARL1,synonymous_variant,p.=,ENST00000261636,NM_001177.4;ARL1,synonymous_variant,p.=,ENST00000536227,;ARL1,synonymous_variant,p.=,ENST00000539055,;ARL1,synonymous_variant,p.=,ENST00000551671,;ARL1,synonymous_variant,p.=,ENST00000551828,;ARL1,synonymous_variant,p.=,ENST00000551688,;ARL1,downstream_gene_variant,,ENST00000549283,;ARL1,3_prime_UTR_variant,,ENST00000551092,;ARL1,non_coding_transcript_exon_variant,,ENST00000550597,;							LOW	495/546		ARL1_HUMAN			Transcript			.	ENSP00000261636		CCDS44958.1			1	
FREM3	0	LGGM	GRCh37	4	144507090	144507090	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	26	23	.	.	ENST00000329798.5:c.6085G>A	p.Val2029Met	p.V2029M	ENST00000329798	NM_001168235.1	2029	Gtg/Atg	0	1	1	UPI0000D615C2	0	getma.org/pdb.php?prot=FREM3_HUMAN&from=1995&to=2102&var=V2029M	ENST00000329798		ENSG00000183090	25172		49	2.43		HGNC	p.V2029M	rs368245426	FREM3	0.000127	SNV							ENST00000329798	protein_coding	getma.org/?cm=var&var=hg19,4,144507090,C,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF30,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		V/M		T	medium	6085/6729		getma.org/?cm=msa&ty=f&p=FREM3_HUMAN&rb=1995&re=2102&var=V2029M	deleterious(0)				YES	FREM3,missense_variant,p.Val2029Met,ENST00000329798,NM_001168235.1;GUSBP5,intron_variant,,ENST00000511042,;							MODERATE	6085/6420	V2029M	FREM3_HUMAN	0.0031		Transcript		possibly_damaging(0.652)	common_variant	ENSP00000332886	0.000271	CCDS54808.1	0.00439		1	
TACC2	0	LGGM	GRCh37	10	123976243	123976243	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	45	25	.	.	ENST00000369005.1:c.7446G>A	p.Thr2482=	p.T2482=	ENST00000369005	NM_206862.2	2482	acG/acA	0	1		UPI0000246F6B	0		ENST00000334433		ENSG00000138162	11523		70			HGNC	p.T628T	rs767565546	TACC2	6.06E-05	SNV							ENST00000358010	protein_coding			hmmpanther:PTHR13924,hmmpanther:PTHR13924:SF11		T		A		7492/9377								TACC2,synonymous_variant,p.=,ENST00000369005,NM_206862.2;TACC2,synonymous_variant,p.=,ENST00000334433,;TACC2,synonymous_variant,p.=,ENST00000515273,;TACC2,synonymous_variant,p.=,ENST00000515603,;TACC2,synonymous_variant,p.=,ENST00000453444,;TACC2,synonymous_variant,p.=,ENST00000513429,NM_206861.1;TACC2,synonymous_variant,p.=,ENST00000360561,NM_206860.1;TACC2,synonymous_variant,p.=,ENST00000368999,;TACC2,synonymous_variant,p.=,ENST00000358010,;TACC2,synonymous_variant,p.=,ENST00000369000,;TACC2,synonymous_variant,p.=,ENST00000369001,;TACC2,synonymous_variant,p.=,ENST00000369004,;TACC2,synonymous_variant,p.=,ENST00000260733,NM_006997.2;TACC2,synonymous_variant,p.=,ENST00000514539,;TACC2,synonymous_variant,p.=,ENST00000496913,;TACC2,synonymous_variant,p.=,ENST00000508411,;TACC2,downstream_gene_variant,,ENST00000505639,;TACC2,3_prime_UTR_variant,,ENST00000440764,;TACC2,non_coding_transcript_exon_variant,,ENST00000368997,;							LOW	7446/8847		TACC2_HUMAN			Transcript			.	ENSP00000334280	8.24E-06	CCDS7626.1			1	
PRPF3	0	LGGM	GRCh37	1	150298290	150298290	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	87	25	.	.	ENST00000324862.6:c.227C>G	p.Ser76Cys	p.S76C	ENST00000324862	NM_004698.2	76	tCt/tGt	0	1	1	UPI00000729AA	0	getma.org/pdb.php?prot=PRPF3_HUMAN&from=8&to=79&var=S76C	ENST00000324862		ENSG00000117360	17348		112	1.905		HGNC	p.S76C		PRPF3		SNV			1				ENST00000324862	protein_coding	getma.org/?cm=var&var=hg19,1,150298290,C,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51025,hmmpanther:PTHR14212,Pfam_domain:PF01480,Gene3D:1mp1A00,SMART_domains:SM00311,Superfamily_domains:0048205		S/C		G	medium	392/2433		getma.org/?cm=msa&ty=f&p=PRPF3_HUMAN&rb=8&re=79&var=S76C	deleterious(0)				YES	PRPF3,missense_variant,p.Ser76Cys,ENST00000324862,NM_004698.2;PRPF3,missense_variant,p.Ser76Cys,ENST00000414970,;PRPF3,5_prime_UTR_variant,,ENST00000543398,;PRPF3,non_coding_transcript_exon_variant,,ENST00000496202,;PRPF3,upstream_gene_variant,,ENST00000467329,;PRPF3,upstream_gene_variant,,ENST00000467514,;							MODERATE	227/2052	S76C	PRPF3_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000315379		CCDS951.1			1	
NRG3	0	LGGM	GRCh37	10	84744865	84744865	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	108	27	.	.	ENST00000372141.2:c.1595G>A	p.Ser532Asn	p.S532N	ENST00000372141	NM_001165972.1	532	aGt/aAt	0	1		UPI000013050A	0	NA	ENST00000404547		ENSG00000185737	7999		135	0.06		HGNC	p.S182N	COSM1242585,COSM1242586	NRG3		SNV						1,1	ENST00000537893	protein_coding	getma.org/?cm=var&var=hg19,10,84744865,G,A&fts=all		hmmpanther:PTHR11100,hmmpanther:PTHR11100:SF18		S/N		A	neutral	1667/2163		getma.org/?cm=msa&ty=f&p=NRG3_HUMAN&rb=341&re=719&var=S556N	tolerated_low_confidence(0.69)	D9ZHP6_HUMAN				NRG3,missense_variant,p.Ser335Asn,ENST00000372142,NM_001165973.1;NRG3,missense_variant,p.Ser556Asn,ENST00000404547,;NRG3,missense_variant,p.Ser532Asn,ENST00000372141,NM_001165972.1,NM_001010848.3;NRG3,missense_variant,p.Ser362Asn,ENST00000556918,;NRG3,missense_variant,p.Ser336Asn,ENST00000404576,;NRG3,missense_variant,p.Ser182Asn,ENST00000545131,;NRG3,missense_variant,p.Ser182Asn,ENST00000537893,;NRG3,3_prime_UTR_variant,,ENST00000602794,;NRG3,3_prime_UTR_variant,,ENST00000555784,;					1,1		MODERATE	1667/2163	S556N	NRG3_HUMAN			Transcript		benign(0.002)	.	ENSP00000384796					1	
GRM1	0	LGGM	GRCh37	6	146673443	146673443	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110180	H110180N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	9	35	.	.	ENST00000361719.2:c.1244A>G	p.Asn415Ser	p.N415S	ENST00000361719		415	aAt/aGt	0	1		UPI000013DCFD	0	getma.org/pdb.php?prot=GRM1_HUMAN&from=77&to=485&var=N415S	ENST00000282753		ENSG00000152822	4593	8.64E-05	44	2.325		HGNC	p.N415S	rs750321663	GRM1		SNV			1				ENST00000392299	protein_coding	getma.org/?cm=var&var=hg19,6,146673443,A,G&fts=all		hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822,Prints_domain:PR00593		N/S		G	medium	1479/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=77&re=485&var=N415S	deleterious(0.01)					GRM1,missense_variant,p.Asn415Ser,ENST00000392299,;GRM1,missense_variant,p.Asn415Ser,ENST00000361719,;GRM1,missense_variant,p.Asn415Ser,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Asn415Ser,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Asn415Ser,ENST00000355289,;GRM1,missense_variant,p.Asn415Ser,ENST00000507907,;							MODERATE	1244/3585	N415S	GRM1_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000282753	8.24E-06	CCDS5209.1			1	
ZNF611	0	LGGM	GRCh37	19	53208411	53208411	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	109	37	.	.	ENST00000543227.1:c.1897C>T	p.His633Tyr	p.H633Y	ENST00000543227	NM_001161499.1	633	Cac/Tac	0	1		UPI00001406C1	0	getma.org/pdb.php?prot=ZN611_HUMAN&from=608&to=633&var=H633Y	ENST00000319783		ENSG00000213020	28766		146	-0.41		HGNC	p.H633Y		ZNF611		SNV							ENST00000543227	protein_coding	getma.org/?cm=var&var=hg19,19,53208411,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF233,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/Y		A	neutral	2214/3153		getma.org/?cm=msa&ty=f&p=ZN611_HUMAN&rb=588&re=653&var=H633Y	tolerated(0.89)	M0QYR0_HUMAN				ZNF611,missense_variant,p.His633Tyr,ENST00000543227,NM_001161499.1;ZNF611,missense_variant,p.His633Tyr,ENST00000540744,NM_001161500.1;ZNF611,missense_variant,p.His564Tyr,ENST00000453741,NM_001161501.1;ZNF611,missense_variant,p.His564Tyr,ENST00000602162,;ZNF611,missense_variant,p.His633Tyr,ENST00000319783,NM_030972.3;ZNF611,missense_variant,p.His564Tyr,ENST00000595798,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;							MODERATE	1897/2118	H633Y	ZN611_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000322427		CCDS12855.1			1	
AHNAK2	0	LGGM	GRCh37	14	105410031	105410031	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	169	37	.	.	ENST00000333244.5:c.11757G>A	p.Lys3919=	p.K3919=	ENST00000333244	NM_138420.2	3919	aaG/aaA	0	1	1	UPI00015BB2CA	0		ENST00000333244		ENSG00000185567	20125	8.64E-05	206			HGNC	p.K3919K	rs566831238	AHNAK2		SNV							ENST00000333244	protein_coding		T:0	hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		K		T		11877/18254					T:0.0014	T:0	YES	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;		T:0.0002					LOW	11757/17388		AHNK2_HUMAN		T:0	Transcript			.	ENSP00000353114	8.27E-06	CCDS45177.1		T:0	1	
AHNAK2	0	LGGM	GRCh37	14	105409866	105409866	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110180	H110180N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	165	145	.	.	ENST00000333244.5:c.11922G>T	p.Lys3974Asn	p.K3974N	ENST00000333244	NM_138420.2	3974	aaG/aaT	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		310	2.96		HGNC	p.K3974N		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105409866,C,A&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37,Low_complexity_(Seg):seg		K/N		A	medium	12042/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=3801&re=4000&var=K3974N					YES	AHNAK2,missense_variant,p.Lys3974Asn,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							MODERATE	11922/17388	K3974N	AHNK2_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000353114		CCDS45177.1			1	
LHX1	0	LGGM	GRCh37	17	35300146	35300146	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	3	2	.	.	ENST00000254457.5:c.939C>A	p.Phe313Leu	p.F313L	ENST00000254457	NM_005568.3	313	ttC/ttA	0	1	1	UPI000013CE37	0	NA	ENST00000254457		ENSG00000132130	6593		5	2.095		HGNC	p.F313L		LHX1		SNV							ENST00000254457	protein_coding	getma.org/?cm=var&var=hg19,17,35300146,C,A&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF94		F/L		A	medium	2350/4121		getma.org/?cm=msa&ty=f&p=LHX1_HUMAN&rb=238&re=406&var=F313L	deleterious(0.02)	Q58F18_HUMAN			YES	LHX1,missense_variant,p.Phe313Leu,ENST00000254457,NM_005568.3;RP11-445F12.2,intron_variant,,ENST00000607336,;LHX1,intron_variant,,ENST00000589584,;LHX1,downstream_gene_variant,,ENST00000557970,;LHX1,downstream_gene_variant,,ENST00000559572,;							MODERATE	939/1221	F313L	LHX1_HUMAN			Transcript		benign(0.153)	.	ENSP00000254457		CCDS11316.1			1	
ZSWIM2	0	LGGM	GRCh37	2	187713855	187713855	+	start_lost	Translation_Start_Site	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	4	2	.	.	ENST00000295131.2:c.3G>T	p.Met1?	p.M1?	ENST00000295131	NM_182521.2	1	atG/atT	0	1	1	UPI000013E20D	0	NA	ENST00000295131		ENSG00000163012	30990		6	0		HGNC	p.M1I		ZSWIM2		SNV							ENST00000419862	protein_coding	getma.org/?cm=var&var=hg19,2,187713855,C,A&fts=all				M/I		A	NA	43/2091		http://getma.org/?cm=msa&ty=f&p=ZSWM2_HUMAN&rb=1&re=53&var=M1I	deleterious_low_confidence(0.01)				YES	ZSWIM2,start_lost,p.Met1?,ENST00000295131,NM_182521.2;ZSWIM2,start_lost,p.Met1?,ENST00000419862,;							HIGH	3/1902	M1I	ZSWM2_HUMAN			Transcript		possibly_damaging(0.713)	.	ENSP00000295131		CCDS33348.1			1	
HDGFL2	0	LGGM	GRCh37	19	4491821	4491821	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	15	2	.	.	ENST00000301284.4:c.667C>A	p.Arg223=	p.R223=	ENST00000301284	NM_001001520.1	223	Cgg/Agg	0	1	1	UPI000013E6F7	0		ENST00000301284		ENSG00000167674			17			Uniprot_gn	p.R98R		HDGFRP2		SNV							ENST00000589486	protein_coding			hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF18,Low_complexity_(Seg):seg		R		A		731/2296				K7EQ06_HUMAN,K7EJP7_HUMAN,K7EIG6_HUMAN			YES	HDGFRP2,synonymous_variant,p.=,ENST00000301284,NM_001001520.1,NM_032631.2;HDGFRP2,synonymous_variant,p.=,ENST00000586684,;HDGFRP2,synonymous_variant,p.=,ENST00000589486,;HDGFRP2,upstream_gene_variant,,ENST00000587016,;HDGFRP2,downstream_gene_variant,,ENST00000592691,;HDGFRP2,synonymous_variant,p.=,ENST00000590872,;HDGFRP2,downstream_gene_variant,,ENST00000601353,;							LOW	667/2031		HDGR2_HUMAN			Transcript			.	ENSP00000301284		CCDS42472.1			1	
KDM8	0	LGGM	GRCh37	16	27221795	27221795	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	16	2	.	.	ENST00000441782.2:c.465C>A	p.Ala155=	p.A155=	ENST00000441782	NM_001145348.1	155	gcC/gcA	0	1		UPI0000071B08	0		ENST00000286096		ENSG00000155666	25840		18			HGNC	p.A117A		KDM8		SNV							ENST00000286096	protein_coding			hmmpanther:PTHR12461,hmmpanther:PTHR12461:SF11		A		A		524/2458				H3BR76_HUMAN,H3BM39_HUMAN,B4DPM6_HUMAN				KDM8,synonymous_variant,p.=,ENST00000286096,NM_024773.2;KDM8,synonymous_variant,p.=,ENST00000380948,;KDM8,synonymous_variant,p.=,ENST00000568965,;KDM8,synonymous_variant,p.=,ENST00000441782,NM_001145348.1;KDM8,synonymous_variant,p.=,ENST00000569329,;KDM8,synonymous_variant,p.=,ENST00000562733,;KDM8,upstream_gene_variant,,ENST00000567735,;CTD-3203P2.1,downstream_gene_variant,,ENST00000567108,;KDM8,non_coding_transcript_exon_variant,,ENST00000562269,;KDM8,upstream_gene_variant,,ENST00000567785,;KDM8,upstream_gene_variant,,ENST00000567366,;KDM8,intron_variant,,ENST00000564961,;KDM8,upstream_gene_variant,,ENST00000563571,;KDM8,upstream_gene_variant,,ENST00000568792,;							LOW	351/1251		KDM8_HUMAN			Transcript			.	ENSP00000286096		CCDS10627.1			1	
WFDC1	0	LGGM	GRCh37	16	84353043	84353043	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	15	2	.	.	ENST00000219454.5:c.428C>A	p.Ala143Glu	p.A143E	ENST00000219454	NM_001282467.1	143	gCg/gAg	0	1	1	UPI0000138EFA	0	NA	ENST00000219454		ENSG00000103175	15466		17	0.975		HGNC	p.A143E		WFDC1		SNV							ENST00000219454	protein_coding	getma.org/?cm=var&var=hg19,16,84353043,C,A&fts=all		hmmpanther:PTHR14308		A/E		A	low	754/1527		getma.org/?cm=msa&ty=f&p=WFDC1_HUMAN&rb=108&re=220&var=A143E	deleterious(0)				YES	WFDC1,missense_variant,p.Ala143Glu,ENST00000219454,NM_001282467.1,NM_001282466.1;WFDC1,missense_variant,p.Ala143Glu,ENST00000568638,NM_021197.2;WFDC1,non_coding_transcript_exon_variant,,ENST00000567056,;							MODERATE	428/663	A143E	WFDC1_HUMAN			Transcript		possibly_damaging(0.67)	.	ENSP00000219454		CCDS10946.1			1	
HMGXB3	0	LGGM	GRCh37	5	149416366	149416366	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	13	2	.	.	ENST00000502717.1:c.2151C>G	p.Asn717Lys	p.N717K	ENST00000502717	NM_014983.2	717	aaC/aaG	0	1	1	UPI00001C1E29	0	NA	ENST00000502717		ENSG00000113716	28982		15	2.095		HGNC	p.N685K		HMGXB3		SNV							ENST00000503427	protein_coding	getma.org/?cm=var&var=hg19,5,149416366,C,G&fts=all		hmmpanther:PTHR17609,hmmpanther:PTHR17609:SF0		N/K		G	medium	2615/4974		getma.org/?cm=msa&ty=f&p=HMGX3_HUMAN&rb=472&re=1536&var=N963K	deleterious(0)	Q6P442_HUMAN			YES	HMGXB3,missense_variant,p.Asn685Lys,ENST00000503427,;HMGXB3,missense_variant,p.Asn717Lys,ENST00000502717,NM_014983.2;HMGXB3,intron_variant,,ENST00000514469,;HMGXB3,intron_variant,,ENST00000513318,;							MODERATE	2151/3879	N963K	HMGX3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000421917		CCDS54935.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81599213	81599213	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	12	2	.	.	ENST00000356860.3:c.2292T>A	p.Thr764=	p.T764=	ENST00000356860	NM_000722.2	764	acT/acA	0	1		UPI0001B9E74B	0		ENST00000356253		ENSG00000153956	1399		14			HGNC	p.T764T		CACNA2D1		SNV			1				ENST00000356860	protein_coding			hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6		T		T		2584/3858				Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,synonymous_variant,p.=,ENST00000356860,NM_000722.2;CACNA2D1,synonymous_variant,p.=,ENST00000356253,;CACNA2D1,synonymous_variant,p.=,ENST00000443883,;CACNA2D1,intron_variant,,ENST00000535308,;CACNA2D1,intron_variant,,ENST00000486539,;							LOW	2328/3312		CA2D1_HUMAN			Transcript			.	ENSP00000348589					1	
DDX10	0	LGGM	GRCh37	11	108546412	108546412	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	45	3	.	.	ENST00000322536.3:c.337G>A	p.Ala113Thr	p.A113T	ENST00000322536	NM_004398.2	113	Gcc/Acc	0	1	1	UPI0000140E62	0	getma.org/pdb.php?prot=DDX10_HUMAN&from=93&to=263&var=A113T	ENST00000322536		ENSG00000178105	2735		48	3.705		HGNC	p.A113T	COSM466283	DDX10		SNV						1	ENST00000322536	protein_coding	getma.org/?cm=var&var=hg19,11,108546412,G,A&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF54,Pfam_domain:PF00270,Gene3D:3.40.50.300,SMART_domains:SM00487		A/T		A	high	466/3264		getma.org/?cm=msa&ty=f&p=DDX10_HUMAN&rb=93&re=263&var=A113T	deleterious(0.03)				YES	DDX10,missense_variant,p.Ala113Thr,ENST00000526794,;DDX10,missense_variant,p.Ala113Thr,ENST00000322536,NM_004398.2;DDX10,non_coding_transcript_exon_variant,,ENST00000534774,;					1		MODERATE	337/2628	A113T	DDX10_HUMAN			Transcript		benign(0.336)	.	ENSP00000314348		CCDS8342.1			1	
ZNF7	0	LGGM	GRCh37	8	146067528	146067528	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	46	3	.	.	ENST00000528372.1:c.1036C>T	p.Gln346Ter	p.Q346*	ENST00000528372		346	Cag/Tag	0	1	1	UPI000013C3F8	0	NA	ENST00000528372		ENSG00000147789	13139		49	0		HGNC	p.Q346X		ZNF7		SNV							ENST00000325241	protein_coding	getma.org/?cm=var&var=hg19,8,146067528,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF189,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/*		T	NA	1276/2905		NA		Q7KZ25_HUMAN,F5H290_HUMAN,E9PPK0_HUMAN			YES	ZNF7,stop_gained,p.Gln346Ter,ENST00000528372,;ZNF7,stop_gained,p.Gln346Ter,ENST00000325241,NM_003416.2;ZNF7,stop_gained,p.Gln357Ter,ENST00000446747,NM_001282795.1;ZNF7,stop_gained,p.Gln250Ter,ENST00000544249,NM_001282797.1;ZNF7,intron_variant,,ENST00000525266,NM_001282796.1;ZNF7,intron_variant,,ENST00000325217,;ZNF7,downstream_gene_variant,,ENST00000528130,;ZNF7,downstream_gene_variant,,ENST00000532777,;ZNF7,downstream_gene_variant,,ENST00000527218,;ZNF7,downstream_gene_variant,,ENST00000533314,;ZNF7,downstream_gene_variant,,ENST00000529819,;ZNF7,downstream_gene_variant,,ENST00000532393,;ZNF7,downstream_gene_variant,,ENST00000530776,;ZNF7,downstream_gene_variant,,ENST00000532051,;ZNF7,non_coding_transcript_exon_variant,,ENST00000528017,;COMMD5,intron_variant,,ENST00000530332,;ZNF7,downstream_gene_variant,,ENST00000532382,;ZNF7,downstream_gene_variant,,ENST00000530082,;ZNF7,downstream_gene_variant,,ENST00000529767,;							HIGH	1036/2061	Q346*	ZNF7_HUMAN			Transcript			.	ENSP00000432724		CCDS6435.1			1	
MUC19	0	LGGM	GRCh37	12	40941584	40941584	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	41	3	.	.	ENST00000454784.4:c.*6411G>A		*2137*	ENST00000454784				0	1	1	UPI0003B927DE	0		ENST00000454784		ENSG00000205592	14362		44			HGNC	p.T107T	rs758156014	MUC19		SNV							ENST00000538912	protein_coding							A		18037/19628				C9JCE7_HUMAN			YES	MUC19,3_prime_UTR_variant,,ENST00000454784,;MUC19,upstream_gene_variant,,ENST00000542482,;MUC19,non_coding_transcript_exon_variant,,ENST00000460785,;MUC19,non_coding_transcript_exon_variant,,ENST00000492952,;MUC19,synonymous_variant,p.=,ENST00000380816,;MUC19,non_coding_transcript_exon_variant,,ENST00000541039,;							MODIFIER	-/10893					Transcript			.	ENSP00000476404					1	
REV3L	0	LGGM	GRCh37	6	111711345	111711345	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	16	3	.	.	ENST00000358835.3:c.701G>A	p.Cys234Tyr	p.C234Y	ENST00000358835		234	tGt/tAt	0	1	1	UPI0000140023	0	NA	ENST00000358835		ENSG00000009413	9968		19	2.375		HGNC	p.C234Y		REV3L		SNV							ENST00000358835	protein_coding	getma.org/?cm=var&var=hg19,6,111711345,C,T&fts=all		hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		C/Y		T	medium	1156/10789		getma.org/?cm=msa&ty=f&p=DPOLZ_HUMAN&rb=204&re=403&var=C234Y	deleterious(0)	Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,missense_variant,p.Cys156Tyr,ENST00000435970,NM_001286432.1;REV3L,missense_variant,p.Cys234Tyr,ENST00000358835,;REV3L,missense_variant,p.Cys234Tyr,ENST00000368802,NM_002912.3;REV3L,missense_variant,p.Cys234Tyr,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;REV3L,downstream_gene_variant,,ENST00000460981,;REV3L,upstream_gene_variant,,ENST00000470871,;							MODERATE	701/9393	C234Y	DPOLZ_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000351697		CCDS5091.2			1	
MUC12	0	LGGM	GRCh37	7	100639217	100639217	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	3	3	.	.	ENST00000536621.1:c.5373delA	p.Gly1792ValfsTer72	p.G1792Vfs*72	ENST00000536621	NM_001164462.1	1791	tcA/tc	0	1		UPI0001722DB1	0		ENST00000379442		ENSG00000205277	7510		6			HGNC	p.S1791fs	COSM1488040	MUC12		deletion						1	ENST00000536621	protein_coding			hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		S/X		-		5802/16737								MUC12,frameshift_variant,p.Gly1935ValfsTer72,ENST00000379442,;MUC12,frameshift_variant,p.Gly1792ValfsTer72,ENST00000536621,NM_001164462.1;					1		HIGH	5802/16437		MUC12_HUMAN			Transcript			.	ENSP00000368755					1	
CORO7	0	LGGM	GRCh37	16	4410971	4410971	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	19	3	.	.	ENST00000251166.4:c.1890G>A	p.Arg630=	p.R630=	ENST00000251166	NM_024535.4	630	cgG/cgA	0	1	1	UPI00001FF898	0		ENST00000251166		ENSG00000262246	26161		22			HGNC	p.R630R		CORO7		SNV							ENST00000251166	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR10856:SF20,hmmpanther:PTHR10856,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:0049172		R		T		2036/3540				I3L258_HUMAN,B3KSY4_HUMAN			YES	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;CORO7,3_prime_UTR_variant,,ENST00000423908,;CORO7,downstream_gene_variant,,ENST00000572549,;CORO7,upstream_gene_variant,,ENST00000570779,;CORO7,downstream_gene_variant,,ENST00000572044,;CORO7-PAM16,upstream_gene_variant,,ENST00000572274,;CORO7-PAM16,3_prime_UTR_variant,,ENST00000575334,;CORO7,3_prime_UTR_variant,,ENST00000571227,;CORO7,3_prime_UTR_variant,,ENST00000574311,;CORO7,3_prime_UTR_variant,,ENST00000576437,;CORO7,non_coding_transcript_exon_variant,,ENST00000575714,;CORO7,non_coding_transcript_exon_variant,,ENST00000575531,;CORO7,non_coding_transcript_exon_variant,,ENST00000572666,;CORO7,downstream_gene_variant,,ENST00000571756,;CORO7,downstream_gene_variant,,ENST00000573773,;CORO7,upstream_gene_variant,,ENST00000576637,;CORO7,upstream_gene_variant,,ENST00000572125,;CORO7,upstream_gene_variant,,ENST00000574849,;							LOW	1890/2778		CORO7_HUMAN			Transcript			.	ENSP00000251166		CCDS10513.1			1	
MYO3B	0	LGGM	GRCh37	2	171092614	171092614	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	46	3	.	.	ENST00000408978.4:c.717G>A	p.Met239Ile	p.M239I	ENST00000408978	NM_138995.4	239	atG/atA	0	1	1	UPI000020907B	0	getma.org/pdb.php?prot=MYO3B_HUMAN&from=27&to=293&var=M239I	ENST00000408978		ENSG00000071909	15576		49	1.335		HGNC	p.M248I		MYO3B		SNV							ENST00000334231	protein_coding	getma.org/?cm=var&var=hg19,2,171092614,G,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF311,PROSITE_profiles:PS50011		M/I		A	low	860/5529		getma.org/?cm=msa&ty=f&p=MYO3B_HUMAN&rb=27&re=293&var=M239I	deleterious(0.01)				YES	MYO3B,missense_variant,p.Met248Ile,ENST00000334231,;MYO3B,missense_variant,p.Met239Ile,ENST00000408978,NM_138995.4;MYO3B,missense_variant,p.Met239Ile,ENST00000409044,NM_001083615.3;MYO3B,missense_variant,p.Met248Ile,ENST00000484338,;MYO3B,missense_variant,p.Met239Ile,ENST00000442690,;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,;MYO3B,missense_variant,p.Met239Ile,ENST00000317935,;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,;							MODERATE	717/4026	M239I	MYO3B_HUMAN			Transcript		benign(0.309)	.	ENSP00000386213		CCDS42773.1			1	
ANKRD31	0	LGGM	GRCh37	5	74484396	74484396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	15	3	.	.	ENST00000506364.2:c.1486G>T	p.Ala496Ser	p.A496S	ENST00000506364		496	Gct/Tct	0	1		UPI00001D7FAE	0	getma.org/pdb.php?prot=ANR31_HUMAN&from=491&to=585&var=A496S	ENST00000274361		ENSG00000145700	26853		18	2.755		HGNC	p.A496S		ANKRD31		SNV							ENST00000506364	protein_coding	getma.org/?cm=var&var=hg19,5,74484396,C,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,SMART_domains:SM00248,Superfamily_domains:SSF48403		A/S		A	medium	1678/6036		getma.org/?cm=msa&ty=f&p=ANR31_HUMAN&rb=491&re=585&var=A496S	deleterious(0)	H0YAM5_HUMAN,D6RJB7_HUMAN				ANKRD31,missense_variant,p.Ala496Ser,ENST00000506364,;ANKRD31,missense_variant,p.Ala496Ser,ENST00000274361,NM_001164443.1;							MODERATE	1486/5622	A496S	ANR31_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274361		CCDS47233.1			1	
CNPY2	0	LGGM	GRCh37	12	56705188	56705188	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	41	3	.	.	ENST00000273308.4:c.215C>T	p.Ala72Val	p.A72V	ENST00000273308	NM_014255.5	72	gCc/gTc	0	1	1	UPI000004C630	0	NA	ENST00000273308		ENSG00000257727	13529		44	2.375		HGNC	p.A72V		CNPY2		SNV							ENST00000549318	protein_coding	getma.org/?cm=var&var=hg19,12,56705188,G,A&fts=all		Pfam_domain:PF11938,hmmpanther:PTHR13341,hmmpanther:PTHR13341:SF7,PROSITE_profiles:PS50015		A/V		A	medium	756/1209		getma.org/?cm=msa&ty=f&p=CNPY2_HUMAN&rb=25&re=172&var=A72V	deleterious(0.02)	H0YI18_HUMAN,F8W1K5_HUMAN,F8VXJ7_HUMAN			YES	CNPY2,missense_variant,p.Ala72Val,ENST00000273308,NM_014255.5;RP11-977G19.10,missense_variant,p.Ala72Val,ENST00000549318,;CNPY2,missense_variant,p.Ala72Val,ENST00000551475,;CNPY2,missense_variant,p.Ala20Val,ENST00000551286,;RP11-977G19.10,intron_variant,,ENST00000547423,;RP11-977G19.10,intron_variant,,ENST00000548360,;PAN2,downstream_gene_variant,,ENST00000425394,NM_001127460.2;RP11-977G19.11,intron_variant,,ENST00000549860,;RP11-977G19.11,intron_variant,,ENST00000549565,;RP11-977G19.12,downstream_gene_variant,,ENST00000546789,;CNPY2,intron_variant,,ENST00000551720,;CNPY2,downstream_gene_variant,,ENST00000551276,;CNPY2,3_prime_UTR_variant,,ENST00000553191,;CNPY2,non_coding_transcript_exon_variant,,ENST00000546937,;CNPY2,downstream_gene_variant,,ENST00000548013,;CNPY2,upstream_gene_variant,,ENST00000546466,;CNPY2,downstream_gene_variant,,ENST00000546388,;CNPY2,downstream_gene_variant,,ENST00000553164,;CNPY2,downstream_gene_variant,,ENST00000547570,;							MODERATE	215/549	A72V	CNPY2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000273308		CCDS8914.1			1	
SYN2	0	LGGM	GRCh37	3	12232065	12232065	+	downstream_gene_variant	3'Flank	SNP	A	A	G	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	89	4	.	.				ENST00000432424				0	1	1		0		ENST00000432424		ENSG00000157152	11495		93		4837	HGNC	p.E495E	rs547699585	SYN2		SNV							ENST00000540660	processed_transcript		G:0					G		-/3897					G:0	G:0.001	YES	SYN2,non_coding_transcript_exon_variant,,ENST00000426379,;SYN2,downstream_gene_variant,,ENST00000432424,;SYN2,non_coding_transcript_exon_variant,,ENST00000439861,;	0.000232	G:0.0002					MODIFIER					G:0	Transcript			.		1.65E-05			G:0	1	
ATP10B	0	LGGM	GRCh37	5	159992632	159992632	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	48	4	.	.	ENST00000327245.5:c.4214C>T	p.Thr1405Met	p.T1405M	ENST00000327245	NM_025153.2	1405	aCg/aTg	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		52	0		HGNC	p.T1405M	rs746808098	ATP10B	0.000424	SNV							ENST00000327245	protein_coding	getma.org/?cm=var&var=hg19,5,159992632,G,A&fts=all		hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		T/M		A	neutral	5061/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=1265&re=1461&var=T1405M	deleterious_low_confidence(0.05)				YES	ATP10B,missense_variant,p.Thr1405Met,ENST00000327245,NM_025153.2;	0.000465						MODERATE	4214/4386	T1405M	AT10B_HUMAN			Transcript		benign(0.243)	common_variant	ENSP00000313600	9.09E-05	CCDS43394.1			1	
TTN	0	LGGM	GRCh37	2	179402102	179402102	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	43	4	.	.	ENST00000589042.1:c.99832A>G	p.Thr33278Ala	p.T33278A	ENST00000589042	NM_001267550.1	33278	Aca/Gca	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=31562&to=31646&var=T31637A	ENST00000591111		ENSG00000155657	12403		47	1.18		HGNC	p.T24338A	rs749065018	TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179402102,T,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/A		C	low	95134/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=31562&re=31646&var=T31637A		C9JQJ2_HUMAN				TTN,missense_variant,p.Thr33278Ala,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr31637Ala,ENST00000591111,;TTN,missense_variant,p.Thr30710Ala,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Thr24405Ala,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr24338Ala,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr24213Ala,ENST00000460472,NM_003319.4;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000419746,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000591466,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000585358,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000591867,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588244,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000450692,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000588716,;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,,ENST00000586452,;TTN-AS1,intron_variant,,ENST00000589391,;TTN-AS1,intron_variant,,ENST00000592689,;TTN-AS1,intron_variant,,ENST00000592600,;TTN-AS1,intron_variant,,ENST00000585487,;TTN-AS1,intron_variant,,ENST00000592182,;TTN-AS1,intron_variant,,ENST00000590807,;TTN-AS1,intron_variant,,ENST00000586831,;TTN-AS1,intron_variant,,ENST00000588804,;TTN-AS1,intron_variant,,ENST00000592630,;TTN-AS1,intron_variant,,ENST00000592750,;TTN-AS1,intron_variant,,ENST00000592836,;TTN-AS1,intron_variant,,ENST00000591332,;TTN-AS1,downstream_gene_variant,,ENST00000442329,;TTN-AS1,downstream_gene_variant,,ENST00000588257,;TTN-AS1,upstream_gene_variant,,ENST00000590932,;RP11-65L3.4,upstream_gene_variant,,ENST00000604692,;TTN-AS1,downstream_gene_variant,,ENST00000589842,;TTN-AS1,upstream_gene_variant,,ENST00000415561,;TTN-AS1,upstream_gene_variant,,ENST00000438095,;	0.00014						MODERATE	94909/103053	T31637A	TITIN_HUMAN			Transcript			.	ENSP00000465570	8.28E-06				1	
ALS2	0	LGGM	GRCh37	2	202593779	202593779	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	61	4	.	.	ENST00000264276.6:c.2708T>G	p.Met903Arg	p.M903R	ENST00000264276	NM_020919.3	903	aTg/aGg	0	1	1	UPI0000231C77	0	NA	ENST00000264276		ENSG00000003393	443		65	1.445		HGNC	p.M215R		ALS2		SNV			1				ENST00000457679	protein_coding	getma.org/?cm=var&var=hg19,2,202593779,A,C&fts=all		hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF12		M/R		C	low	3081/6644		getma.org/?cm=msa&ty=f&p=ALS2_HUMAN&rb=901&re=1007&var=M903R	deleterious(0.03)	J3KQ43_HUMAN,J3KQ33_HUMAN,A8K4R4_HUMAN			YES	ALS2,missense_variant,p.Met903Arg,ENST00000264276,NM_020919.3;ALS2,missense_variant,p.Met215Arg,ENST00000457679,;ALS2,non_coding_transcript_exon_variant,,ENST00000494017,;ALS2,non_coding_transcript_exon_variant,,ENST00000483703,;ALS2,upstream_gene_variant,,ENST00000489440,;ALS2,missense_variant,p.Met224Arg,ENST00000439495,;ALS2,non_coding_transcript_exon_variant,,ENST00000482891,;							MODERATE	2708/4974	M903R	ALS2_HUMAN			Transcript		benign(0.122)	.	ENSP00000264276		CCDS42800.1			1	
KIAA1919	0	LGGM	GRCh37	6	111587644	111587644	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	52	4	.	.	ENST00000368847.4:c.879G>A	p.Gln293=	p.Q293=	ENST00000368847	NM_153369.2	293	caG/caA	0	1	1	UPI000013EF89	0		ENST00000368847		ENSG00000173214	21053		56			HGNC	p.Q293Q		KIAA1919		SNV							ENST00000368847	protein_coding			hmmpanther:PTHR23121:SF12,hmmpanther:PTHR23121,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		Q		A		1232/5958							YES	KIAA1919,synonymous_variant,p.=,ENST00000368847,NM_153369.2;							LOW	879/1557		NAGT1_HUMAN			Transcript			.	ENSP00000357840		CCDS5090.1			1	
SMARCC1	0	LGGM	GRCh37	3	47787438	47787438	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	60	4	.	.	ENST00000254480.5:c.361A>C	p.Ile121Leu	p.I121L	ENST00000254480	NM_003074.3	121	Att/Ctt	0	1	1	UPI000013CE3B	0	NA	ENST00000254480		ENSG00000173473	11104		64	2.58		HGNC	p.I121L		SMARCC1		SNV							ENST00000454240	protein_coding	getma.org/?cm=var&var=hg19,3,47787438,T,G&fts=all		hmmpanther:PTHR12802,hmmpanther:PTHR12802:SF9		I/L		G	medium	481/6375		getma.org/?cm=msa&ty=f&p=SMRC1_HUMAN&rb=38&re=237&var=I121L	tolerated(0.08)	F8WE13_HUMAN			YES	SMARCC1,missense_variant,p.Ile121Leu,ENST00000254480,NM_003074.3;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,;SMARCC1,non_coding_transcript_exon_variant,,ENST00000485833,;SMARCC1,missense_variant,p.Ile121Leu,ENST00000454240,;							MODERATE	361/3318	I121L	SMRC1_HUMAN			Transcript		benign(0.09)	.	ENSP00000254480		CCDS2758.1			1	
SLC39A12	0	LGGM	GRCh37	10	18266867	18266867	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	71	5	.	.	ENST00000377369.2:c.788G>A	p.Ser263Asn	p.S263N	ENST00000377369	NM_001145195.1	263	aGt/aAt	0	1	1	UPI00004044FC	0	NA	ENST00000377369		ENSG00000148482	20860		76	1.25		HGNC	p.S263N	rs772093225	SLC39A12		SNV				9.67E-05			ENST00000377369	protein_coding	getma.org/?cm=var&var=hg19,10,18266867,G,A&fts=all		hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF4		S/N		A	low	1061/2808		getma.org/?cm=msa&ty=f&p=S39AC_HUMAN&rb=201&re=365&var=S263N	tolerated(0.43)	F5GX72_HUMAN			YES	SLC39A12,missense_variant,p.Ser263Asn,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Ser263Asn,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Ser263Asn,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Ser129Asn,ENST00000539911,NM_001282734.1;							MODERATE	788/2076	S263N	S39AC_HUMAN			Transcript		benign(0.002)	.	ENSP00000366586	8.24E-06	CCDS44362.1			1	
FRY	0	LGGM	GRCh37	13	32812070	32812070	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	68	5	.	.	ENST00000380250.3:c.6365G>T	p.Ser2122Ile	p.S2122I	ENST00000380250	NM_023037.2	2122	aGt/aTt	0	1	1	UPI000046FD40	0	NA	ENST00000380250		ENSG00000073910	20367		73	1.905		HGNC	p.S2122I		FRY		SNV							ENST00000380250	protein_coding	getma.org/?cm=var&var=hg19,13,32812070,G,T&fts=all		Pfam_domain:PF14225,hmmpanther:PTHR12295,hmmpanther:PTHR12295:SF29,Low_complexity_(Seg):seg		S/I		T	medium	6861/10735		getma.org/?cm=msa&ty=f&p=FRY_HUMAN&rb=2038&re=2300&var=S2122I	deleterious(0)	Q96KW3_HUMAN,F5H4D2_HUMAN			YES	FRY,missense_variant,p.Ser2122Ile,ENST00000380250,NM_023037.2;							MODERATE	6365/9042	S2122I	FRY_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000369600		CCDS41875.1			1	
ANKRD18B	0	LGGM	GRCh37	9	33548297	33548297	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	49	5	.	.	ENST00000290943.6:c.1325A>G	p.Tyr442Cys	p.Y442C	ENST00000290943	NM_001244752.1	442	tAc/tGc	0	1	1	UPI0000EE047B	0		ENST00000290943		ENSG00000230453	23644		54			HGNC	p.Y442C		ANKRD18B		SNV							ENST00000290943	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24147:SF22,hmmpanther:PTHR24147,Pfam_domain:PF14915		Y/C		G		1421/3773			deleterious(0.02)				YES	ANKRD18B,missense_variant,p.Tyr442Cys,ENST00000290943,NM_001244752.1;ANKRD18B,upstream_gene_variant,,ENST00000357927,;ANKRD18B,downstream_gene_variant,,ENST00000605687,;							MODERATE	1325/3036		AN18B_HUMAN			Transcript		possibly_damaging(0.797)	.	ENSP00000290943					1	
REST	0	LGGM	GRCh37	4	57777099	57777099	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	22	5	.	.	ENST00000309042.7:c.295A>G	p.Ile99Val	p.I99V	ENST00000309042	NM_005612.4	99	Ata/Gta	0	1	1	UPI000013FBF6	0	NA	ENST00000309042		ENSG00000084093	9966		27	-0.69		HGNC	p.I99V		REST		SNV							ENST00000309042	protein_coding	getma.org/?cm=var&var=hg19,4,57777099,A,G&fts=all		hmmpanther:PTHR10032:SF71,hmmpanther:PTHR10032		I/V		G	neutral	609/7300		getma.org/?cm=msa&ty=f&p=REST_HUMAN&rb=1&re=134&var=I99V	tolerated(0.78)				YES	REST,missense_variant,p.Ile99Val,ENST00000309042,NM_005612.4,NM_001193508.1;REST,upstream_gene_variant,,ENST00000514063,;REST,downstream_gene_variant,,ENST00000503522,;REST,non_coding_transcript_exon_variant,,ENST00000511065,;							MODERATE	295/3294	I99V	REST_HUMAN			Transcript		benign(0.009)	.	ENSP00000311816		CCDS3509.1			1	
TP63	0	LGGM	GRCh37	3	189590736	189590736	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	59	5	.	.	ENST00000264731.3:c.1301C>T	p.Thr434Met	p.T434M	ENST00000264731	NM_003722.4	434	aCg/aTg	0	1	1	UPI0000073CF2	0	NA	ENST00000264731		ENSG00000073282	15979		64	1.04		HGNC	p.T340M	rs558374141,COSM3591209,COSM3591210,COSM3591211	TP63	0.000182	SNV			1			0,1,1,1	ENST00000392461	protein_coding	getma.org/?cm=var&var=hg19,3,189590736,C,T&fts=all	T:0	hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF8		T/M		T	low	1390/4909		getma.org/?cm=msa&ty=f&p=P63_HUMAN&rb=433&re=540&var=T434M	deleterious(0.02)		T:0	T:0	YES	TP63,missense_variant,p.Thr434Met,ENST00000264731,NM_003722.4,NM_001114978.1;TP63,missense_variant,p.Thr340Met,ENST00000354600,NM_001114981.1,NM_001114980.1;TP63,missense_variant,p.Thr349Met,ENST00000382063,;TP63,missense_variant,p.Thr434Met,ENST00000418709,NM_001114979.1;TP63,missense_variant,p.Thr340Met,ENST00000437221,NM_001114982.1;TP63,missense_variant,p.Thr434Met,ENST00000320472,;TP63,missense_variant,p.Thr430Met,ENST00000440651,;TP63,missense_variant,p.Thr336Met,ENST00000456148,;TP63,missense_variant,p.Thr434Met,ENST00000392460,;TP63,missense_variant,p.Thr255Met,ENST00000449992,;TP63,missense_variant,p.Thr340Met,ENST00000392463,;TP63,missense_variant,p.Thr340Met,ENST00000392461,;TP63,non_coding_transcript_exon_variant,,ENST00000460036,;		T:0.0002			0,1,1,1		MODERATE	1301/2043	T434M	P63_HUMAN		T:0	Transcript		possibly_damaging(0.628)	.	ENSP00000264731	2.47E-05	CCDS3293.1		T:0.001	1	
C5orf42	0	LGGM	GRCh37	5	37185111	37185111	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	45	6	.	.	ENST00000425232.2:c.4260A>G	p.Lys1420=	p.K1420=	ENST00000425232	NM_023073.3	1420	aaA/aaG	0	1	1	UPI0001AAB3EA	0		ENST00000425232		ENSG00000197603	25801		51			HGNC	p.K301K		C5orf42		SNV			1				ENST00000274258	protein_coding			hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		K		C		4491/11199							YES	C5orf42,synonymous_variant,p.=,ENST00000274258,;C5orf42,synonymous_variant,p.=,ENST00000425232,NM_023073.3;C5orf42,synonymous_variant,p.=,ENST00000508244,;C5orf42,synonymous_variant,p.=,ENST00000514429,;C5orf42,synonymous_variant,p.=,ENST00000509849,;							LOW	4260/9594		CE042_HUMAN			Transcript			.	ENSP00000389014		CCDS34146.2			1	
ATP8B2	0	LGGM	GRCh37	1	154309936	154309936	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	67	6	.	.	ENST00000368489.3:c.1049A>G	p.Asp350Gly	p.D350G	ENST00000368489	NM_020452.3	350	gAc/gGc	0	1	1	UPI00001B92AB	0	NA	ENST00000368489		ENSG00000143515	13534		73	0.14		HGNC	p.D350G		ATP8B2		SNV							ENST00000368489	protein_coding	getma.org/?cm=var&var=hg19,1,154309936,A,G&fts=all		hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049473		D/G		G	neutral	1049/5861		getma.org/?cm=msa&ty=f&p=AT8B2_HUMAN&rb=103&re=374&var=D336G	tolerated(0.29)	Q6P3T1_HUMAN			YES	ATP8B2,missense_variant,p.Asp350Gly,ENST00000368489,NM_020452.3;ATP8B2,missense_variant,p.Asp336Gly,ENST00000341822,;ATP8B2,missense_variant,p.Asp317Gly,ENST00000368487,NM_001005855.1;RNU7-57P,upstream_gene_variant,,ENST00000459540,;ATP8B2,non_coding_transcript_exon_variant,,ENST00000426445,;							MODERATE	1049/3672	D336G	AT8B2_HUMAN			Transcript		benign(0.079)	.	ENSP00000357475		CCDS1066.1			1	
MKI67	0	LGGM	GRCh37	10	129901811	129901811	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	51	7	.	.	ENST00000368654.3:c.8293G>A	p.Ala2765Thr	p.A2765T	ENST00000368654	NM_002417.4	2765	Gca/Aca	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		58	1.78		HGNC	p.A2405T	rs768940923	MKI67		SNV							ENST00000368653	protein_coding	getma.org/?cm=var&var=hg19,10,129901811,C,T&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065		A/T		T	low	8669/12678	1.50E-05	getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=2701&re=2811&var=A2765T	tolerated(0.65)				YES	MKI67,missense_variant,p.Ala2765Thr,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Ala2405Thr,ENST00000368653,NM_001145966.1;MKI67,upstream_gene_variant,,ENST00000464771,;							MODERATE	8293/9771	A2765T	KI67_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000357643	8.24E-06	CCDS7659.1			1	
BARHL2	0	LGGM	GRCh37	1	91180282	91180282	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	49	7	.	.	ENST00000370445.4:c.657G>T	p.Thr219=	p.T219=	ENST00000370445	NM_020063.1	219	acG/acT	0	1	1	UPI00001B50ED	0		ENST00000370445		ENSG00000143032	954		56			HGNC	p.T219T		BARHL2		SNV							ENST00000370445	protein_coding			Gene3D:1.10.10.60,hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF4		T		A		699/1979							YES	BARHL2,synonymous_variant,p.=,ENST00000370445,NM_020063.1;							LOW	657/1164		BARH2_HUMAN			Transcript			.	ENSP00000359474		CCDS730.1			1	
CREB5	0	LGGM	GRCh37	7	28534549	28534549	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	57	7	.	.	ENST00000357727.2:c.101T>G	p.Met34Arg	p.M34R	ENST00000357727	NM_182898.2	34	aTg/aGg	0	1	1	UPI0000457534	0	getma.org/pdb.php?prot=CREB5_HUMAN&from=1&to=200&var=M34R	ENST00000357727		ENSG00000146592	16844		64	1.935		HGNC	p.M27R		CREB5		SNV							ENST00000424599	protein_coding	getma.org/?cm=var&var=hg19,7,28534549,T,G&fts=all		Gene3D:3.30.160.60,PIRSF_domain:PIRSF003153,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19304,hmmpanther:PTHR19304:SF8,Superfamily_domains:SSF57667		M/R		G	medium	491/8532		getma.org/?cm=msa&ty=f&p=CREB5_HUMAN&rb=1&re=200&var=M34R	tolerated(0.06)	H9KVC5_HUMAN,C9JN33_HUMAN			YES	CREB5,start_lost,p.Met1?,ENST00000396299,NM_182899.3;CREB5,start_lost,p.Met1?,ENST00000409603,;CREB5,missense_variant,p.Met34Arg,ENST00000357727,NM_182898.2;CREB5,missense_variant,p.Met27Arg,ENST00000396300,NM_004904.2;CREB5,missense_variant,p.Met27Arg,ENST00000424599,;CREB5,non_coding_transcript_exon_variant,,ENST00000469531,;							MODERATE	101/1527	M34R	CREB5_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000350359		CCDS5417.1			1	
CSTPP1	0	LGGM	GRCh37	11	47008794	47008794	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	77	8	.	.	ENST00000378615.3:c.82G>T	p.Val28Leu	p.V28L	ENST00000378615		28	Gtg/Ttg	0	1		UPI000006E352	0	NA	ENST00000278460		ENSG00000149179	28720		85	0.715		HGNC	p.S74I		C11orf49		SNV							ENST00000526424	protein_coding	getma.org/?cm=var&var=hg19,11,47008794,G,T&fts=all				V/L		T	neutral	141/1645		getma.org/?cm=msa&ty=f&p=CK049_HUMAN&rb=1&re=329&var=V28L	tolerated(0.12)	E9PI28_HUMAN,B4DUV7_HUMAN				C11orf49,missense_variant,p.Val28Leu,ENST00000395460,NM_001003676.2;C11orf49,missense_variant,p.Val28Leu,ENST00000378615,;C11orf49,missense_variant,p.Val28Leu,ENST00000278460,NM_024113.4,NM_001278222.1,NM_001003677.2;C11orf49,missense_variant,p.Val28Leu,ENST00000378618,NM_001003678.2;C11orf49,5_prime_UTR_variant,,ENST00000536126,;C11orf49,5_prime_UTR_variant,,ENST00000543718,;C11orf49,intron_variant,,ENST00000527234,;C11orf49,intron_variant,,ENST00000533124,;C11orf49,missense_variant,p.Val28Leu,ENST00000528488,;C11orf49,missense_variant,p.Val28Leu,ENST00000527784,;C11orf49,missense_variant,p.Val28Leu,ENST00000532633,;C11orf49,missense_variant,p.Val28Leu,ENST00000525279,;C11orf49,missense_variant,p.Ser74Ile,ENST00000526424,;C11orf49,missense_variant,p.Val28Leu,ENST00000527667,;C11orf49,non_coding_transcript_exon_variant,,ENST00000522712,;C11orf49,non_coding_transcript_exon_variant,,ENST00000531648,;C11orf49,non_coding_transcript_exon_variant,,ENST00000532840,;C11orf49,intron_variant,,ENST00000525895,;							MODERATE	82/996	V28L	CK049_HUMAN			Transcript		benign(0.027)	.	ENSP00000278460		CCDS7925.1			1	
TRIM22	0	LGGM	GRCh37	11	5730321	5730321	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	40	8	.	.	ENST00000379965.3:c.940G>T	p.Val314Phe	p.V314F	ENST00000379965	NM_001199573.1	314	Gtt/Ttt	0	1	1	UPI0000074222	0	getma.org/pdb.php?prot=TRI22_HUMAN&from=283&to=498&var=V314F	ENST00000379965		ENSG00000132274	16379		48	1.76		HGNC	p.V314F		TRIM22		SNV							ENST00000379965	protein_coding	getma.org/?cm=var&var=hg19,11,5730321,G,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF265,Superfamily_domains:SSF49899,Prints_domain:PR01407		V/F		T	low	1217/2989		getma.org/?cm=msa&ty=f&p=TRI22_HUMAN&rb=283&re=498&var=V314F	deleterious(0.01)	C9JIU5_HUMAN,C9J060_HUMAN			YES	TRIM22,missense_variant,p.Val314Phe,ENST00000379965,NM_001199573.1,NM_006074.4;TRIM22,missense_variant,p.Val282Phe,ENST00000454828,;TRIM5,intron_variant,,ENST00000380027,;TRIM22,intron_variant,,ENST00000444844,;TRIM22,intron_variant,,ENST00000429063,;TRIM5,intron_variant,,ENST00000412903,;TRIM22,intron_variant,,ENST00000450670,;TRIM22,3_prime_UTR_variant,,ENST00000414897,;TRIM22,non_coding_transcript_exon_variant,,ENST00000480395,;TRIM22,non_coding_transcript_exon_variant,,ENST00000493494,;							MODERATE	940/1497	V314F	TRI22_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000369299		CCDS41612.1			1	
ZNF250	0	LGGM	GRCh37	8	146107558	146107558	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	31	8	.	.	ENST00000292579.7:c.1025A>C	p.Asn342Thr	p.N342T	ENST00000292579	NM_021061.4	342	aAt/aCt	0	1	1	UPI0000197F51	0	getma.org/pdb.php?prot=ZN250_HUMAN&from=325&to=350&var=N342T	ENST00000292579		ENSG00000196150	13044		39	0.225		HGNC	p.N342T		ZNF250		SNV							ENST00000292579	protein_coding	getma.org/?cm=var&var=hg19,8,146107558,T,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF112,SMART_domains:SM00355,Superfamily_domains:SSF57667		N/T		G	neutral	1142/6364		getma.org/?cm=msa&ty=f&p=ZN250_HUMAN&rb=305&re=370&var=N342T	tolerated(0.23)				YES	ZNF250,missense_variant,p.Asn342Thr,ENST00000292579,NM_021061.4,NM_001109689.3;ZNF250,missense_variant,p.Asn337Thr,ENST00000417550,;ZNF250,intron_variant,,ENST00000342660,;ZNF250,intron_variant,,ENST00000543949,;ZNF250,downstream_gene_variant,,ENST00000533622,;ZNF250,downstream_gene_variant,,ENST00000533221,;ZNF250,downstream_gene_variant,,ENST00000525694,;ZNF250,intron_variant,,ENST00000533543,;ZNF250,intron_variant,,ENST00000529780,;ZNF250,intron_variant,,ENST00000528258,;							MODERATE	1025/1683	N342T	ZN250_HUMAN			Transcript		benign(0.05)	.	ENSP00000292579		CCDS34972.1			1	
IL20	0	LGGM	GRCh37	1	207039975	207039975	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110193	H110193N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	77	12	.	.	ENST00000367098.1:c.372G>T	p.Arg124=	p.R124=	ENST00000367098		124	cgG/cgT	0	1		UPI000004C618	0		ENST00000367096		ENSG00000162891	6002		89			HGNC	p.R124R		IL20		SNV							ENST00000367098	protein_coding			Gene3D:1.20.1250.10,Pfam_domain:PF00726,hmmpanther:PTHR11585,hmmpanther:PTHR11585:SF4,SMART_domains:SM00188,Superfamily_domains:SSF47266		R		T		416/925								IL20,synonymous_variant,p.=,ENST00000367098,;IL20,synonymous_variant,p.=,ENST00000367096,NM_018724.3;IL20,synonymous_variant,p.=,ENST00000391930,;							LOW	372/531		IL20_HUMAN			Transcript			.	ENSP00000356063		CCDS1470.1			1	
CR1	0	LGGM	GRCh37	1	207790123	207790123	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110193	H110193N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	120	13	.	.	ENST00000367049.4:c.6865C>T	p.Arg2289Cys	p.R2289C	ENST00000367049	NM_000651.4	2289	Cgc/Tgc	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1774&to=1840&var=R1839C	ENST00000367051		ENSG00000203710	2334	0.000173	133	3.255		HGNC	p.R1839C	rs769027388	CR1		SNV			1				ENST00000367053	protein_coding	getma.org/?cm=var&var=hg19,1,207790123,C,T&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		R/C		T	medium	5626/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1774&re=1840&var=R1839C	deleterious(0.01)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Arg2289Cys,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Arg1839Cys,ENST00000367053,;CR1,missense_variant,p.Arg1839Cys,ENST00000367052,;CR1,missense_variant,p.Arg1839Cys,ENST00000367051,;CR1,missense_variant,p.Arg1839Cys,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Arg462Cys,ENST00000529814,;							MODERATE	5515/6120	R1839C	CR1_HUMAN			Transcript		probably_damaging(0.911)	.	ENSP00000356018	1.65E-05				1	
TICRR	0	LGGM	GRCh37	15	90166948	90166948	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110193	H110193N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	132	15	.	.	ENST00000268138.7:c.3407A>G	p.Glu1136Gly	p.E1136G	ENST00000268138		1136	gAa/gGa	0	1	1	UPI0000D61399	0	NA	ENST00000268138		ENSG00000140534	28704		147	1.79		HGNC	p.E1136G		TICRR		SNV							ENST00000268138	protein_coding	getma.org/?cm=var&var=hg19,15,90166948,A,G&fts=all		hmmpanther:PTHR21556		E/G		G	low	3512/6771		getma.org/?cm=msa&ty=f&p=TICRR_HUMAN&rb=1&re=1145&var=E1136G	deleterious(0.01)				YES	TICRR,missense_variant,p.Glu1136Gly,ENST00000268138,;TICRR,missense_variant,p.Glu1135Gly,ENST00000560985,NM_152259.3;KIF7,downstream_gene_variant,,ENST00000394412,NM_198525.2;KIF7,intron_variant,,ENST00000558928,;TICRR,upstream_gene_variant,,ENST00000561095,;							MODERATE	3407/5733	E1136G	TICRR_HUMAN			Transcript		possibly_damaging(0.479)	.	ENSP00000268138		CCDS10352.2			1	
SPIDR	0	LGGM	GRCh37	8	48614406	48614406	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	67	19	.	.	ENST00000297423.4:c.1897T>C	p.Cys633Arg	p.C633R	ENST00000297423	NM_001080394.2	633	Tgc/Cgc	0	1	1	UPI0000253B92	0	NA	ENST00000297423		ENSG00000164808	28971		86	1.61		HGNC	p.C108R		SPIDR		SNV							ENST00000519362	protein_coding	getma.org/?cm=var&var=hg19,8,48614406,T,C&fts=all		Pfam_domain:PF14951		C/R		C	low	2281/3988		getma.org/?cm=msa&ty=f&p=K0146_HUMAN&rb=1&re=913&var=C633R	tolerated(0.31)	E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN			YES	SPIDR,missense_variant,p.Cys633Arg,ENST00000297423,NM_001080394.2;SPIDR,missense_variant,p.Cys573Arg,ENST00000518074,NM_001282919.1;SPIDR,missense_variant,p.Cys563Arg,ENST00000541342,NM_001282916.1;SPIDR,missense_variant,p.Cys315Arg,ENST00000519401,;SPIDR,missense_variant,p.Cys108Arg,ENST00000517693,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519141,;SPIDR,non_coding_transcript_exon_variant,,ENST00000522321,;SPIDR,non_coding_transcript_exon_variant,,ENST00000518692,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519362,;							MODERATE	1897/2748	C633R	SPIDR_HUMAN			Transcript		benign(0.188)	.	ENSP00000297423		CCDS43737.1			1	
SPIDR	0	LGGM	GRCh37	8	48614410	48614410	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H110193	H110193N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110193N.bam, H110193T.bam	Illumina HiSeq	64	20	.	.	ENST00000297423.4:c.1901T>G	p.Leu634Ter	p.L634*	ENST00000297423	NM_001080394.2	634	tTa/tGa	0	1	1	UPI0000253B92	0	NA	ENST00000297423		ENSG00000164808	28971		84	0		HGNC	p.L109X		SPIDR		SNV							ENST00000519362	protein_coding	getma.org/?cm=var&var=hg19,8,48614410,T,G&fts=all		Pfam_domain:PF14951		L/*		G	NA	2285/3988		NA		E5RGX8_HUMAN,E5RFY2_HUMAN,B3KP42_HUMAN			YES	SPIDR,stop_gained,p.Leu634Ter,ENST00000297423,NM_001080394.2;SPIDR,stop_gained,p.Leu574Ter,ENST00000518074,NM_001282919.1;SPIDR,stop_gained,p.Leu564Ter,ENST00000541342,NM_001282916.1;SPIDR,stop_gained,p.Leu316Ter,ENST00000519401,;SPIDR,stop_gained,p.Leu109Ter,ENST00000517693,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521214,;SPIDR,non_coding_transcript_exon_variant,,ENST00000521550,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519141,;SPIDR,non_coding_transcript_exon_variant,,ENST00000522321,;SPIDR,non_coding_transcript_exon_variant,,ENST00000518692,;SPIDR,3_prime_UTR_variant,,ENST00000522117,;SPIDR,3_prime_UTR_variant,,ENST00000524126,;SPIDR,non_coding_transcript_exon_variant,,ENST00000524141,;SPIDR,non_coding_transcript_exon_variant,,ENST00000519362,;							HIGH	1901/2748	L634*	SPIDR_HUMAN			Transcript			.	ENSP00000297423		CCDS43737.1			1	
KEAP1	0	LGGM	GRCh37	19	10610363	10610363	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	11	2	.	.	ENST00000171111.5:c.347G>T	p.Arg116Leu	p.R116L	ENST00000171111	NM_203500.1	116	cGg/cTg	0	1	1	UPI000007139C	0	getma.org/pdb.php?prot=KEAP1_HUMAN&from=67&to=179&var=R116L	ENST00000171111		ENSG00000079999	23177		13	1.545		HGNC	p.R116L		KEAP1		SNV							ENST00000591419	protein_coding	getma.org/?cm=var&var=hg19,19,10610363,C,A&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695		R/L		A	low	895/2955		getma.org/?cm=msa&ty=f&p=KEAP1_HUMAN&rb=67&re=179&var=R116L	deleterious(0.01)	K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,missense_variant,p.Arg116Leu,ENST00000171111,NM_203500.1;KEAP1,missense_variant,p.Arg116Leu,ENST00000393623,NM_012289.3;KEAP1,missense_variant,p.Arg116Leu,ENST00000591419,;KEAP1,missense_variant,p.Arg116Leu,ENST00000592055,;KEAP1,missense_variant,p.Arg116Leu,ENST00000591039,;KEAP1,upstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000585845,;							MODERATE	347/1875	R116L	KEAP1_HUMAN			Transcript		possibly_damaging(0.845)	.	ENSP00000171111		CCDS12239.1			1	
SEPHS1	0	LGGM	GRCh37	10	13371777	13371777	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	5	2	.	.	ENST00000327347.5:c.572C>T	p.Ala191Val	p.A191V	ENST00000327347	NM_012247.4	191	gCa/gTa	0	1	1	UPI0000135E82	0	getma.org/pdb.php?prot=SPS1_HUMAN&from=165&to=191&var=A191V	ENST00000327347		ENSG00000086475	19685		7	2.795		HGNC	p.A124V		SEPHS1		SNV							ENST00000537130	protein_coding	getma.org/?cm=var&var=hg19,10,13371777,G,A&fts=all		Superfamily_domains:SSF56042,PIRSF_domain:PIRSF036407,TIGRFAM_domain:TIGR00476,hmmpanther:PTHR10256,hmmpanther:PTHR10256:SF2		A/V		A	medium	948/3273		getma.org/?cm=msa&ty=f&p=SPS1_HUMAN&rb=135&re=221&var=A191V	deleterious(0.03)	Q5T5U7_HUMAN,Q5T5U6_HUMAN			YES	SEPHS1,missense_variant,p.Ala191Val,ENST00000327347,NM_012247.4,NM_001195602.1;SEPHS1,missense_variant,p.Ala191Val,ENST00000545675,;SEPHS1,missense_variant,p.Ala191Val,ENST00000378614,NM_001195604.1;SEPHS1,missense_variant,p.Ala124Val,ENST00000537130,;SEPHS1,downstream_gene_variant,,ENST00000413411,;SEPHS1,downstream_gene_variant,,ENST00000425947,;							MODERATE	572/1179	A191V	SPS1_HUMAN			Transcript		possibly_damaging(0.533)	.	ENSP00000367893		CCDS7098.1			1	
PHF21B	0	LGGM	GRCh37	22	45404443	45404443	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	4	2	.	.	ENST00000313237.5:c.103del	p.Ala35ArgfsTer43	p.A35Rfs*43	ENST00000313237	NM_138415.4	35	Gcg/cg	0	1	1	UPI0000072111	0		ENST00000313237		ENSG00000056487	25161		6			HGNC	p.A23fs		PHF21B		deletion							ENST00000404079	protein_coding			hmmpanther:PTHR24102:SF1,hmmpanther:PTHR24102		A/X		-		254/3671				B3KTL5_HUMAN			YES	PHF21B,frameshift_variant,p.Ala35ArgfsTer43,ENST00000313237,NM_138415.4;PHF21B,frameshift_variant,p.Ala35ArgfsTer43,ENST00000396103,NM_001135862.2;PHF21B,frameshift_variant,p.Ala23ArgfsTer43,ENST00000404079,NM_001242450.1;PHF21B,frameshift_variant,p.Ala23ArgfsTer43,ENST00000447824,;PHF21B,frameshift_variant,p.Ala23ArgfsTer43,ENST00000420689,;PHF21B,5_prime_UTR_variant,,ENST00000403565,NM_001284296.1;PHF21B,intron_variant,,ENST00000414269,;RP4-753M9.1,upstream_gene_variant,,ENST00000424580,;PHF21B,non_coding_transcript_exon_variant,,ENST00000490679,;PHF21B,non_coding_transcript_exon_variant,,ENST00000495348,;PHF21B,non_coding_transcript_exon_variant,,ENST00000474327,;PHF21B,non_coding_transcript_exon_variant,,ENST00000491522,;							HIGH	103/1596		PF21B_HUMAN			Transcript			.	ENSP00000324403		CCDS14061.1			1	
HCN2	0	LGGM	GRCh37	19	590562	590562	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	2	2	.	.	ENST00000251287.2:c.617C>A	p.Pro206Gln	p.P206Q	ENST00000251287	NM_001194.3	206	cCg/cAg	0	1	1	UPI000013CCF6	0	NA	ENST00000251287		ENSG00000099822	4846		4	3.145		HGNC	p.P206Q		HCN2		SNV							ENST00000251287	protein_coding	getma.org/?cm=var&var=hg19,19,590562,C,A&fts=all		Pfam_domain:PF08412,Prints_domain:PR01463,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF372,Superfamily_domains:SSF81324		P/Q		A	medium	670/3408		getma.org/?cm=msa&ty=f&p=HCN2_HUMAN&rb=166&re=242&var=P206Q	deleterious(0)	Q09ND3_HUMAN			YES	HCN2,missense_variant,p.Pro206Gln,ENST00000251287,NM_001194.3;AC005559.3,non_coding_transcript_exon_variant,,ENST00000589661,;							MODERATE	617/2670	P206Q	HCN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251287		CCDS12035.1			1	
CTD-3193O13.9	0	LGGM	GRCh37	19	7935795	7935863	+	splice_donor_variant,non_coding_transcript_exon_variant,intron_variant	Splice_Site	DEL	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	-	novel	by Submitter	H110224	H110224N.bam	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	4	2	.	.	ENST00000597156.1:n.402+31_432del		p.X134_splice	ENST00000597156				0	1	1	UPI0001DA930F	0		ENST00000539422		ENSG00000183248		0.0192	6			Clone_based_vega_gene	p.40_49del		CTD-3193O13.9	0.0303	deletion				0.0121			ENST00000327607	protein_coding					PLENLPSLAPPPLQTASAPLTTPH/H		-		2430-2498/4518	0.0353			F5H1R7_HUMAN			YES	CTD-3193O13.9,inframe_deletion,p.Pro756_Pro778del,ENST00000539422,NM_001190467.1;CTD-3193O13.9,inframe_deletion,p.Pro171_Pro193del,ENST00000599142,;CTD-3193O13.11,splice_donor_variant,,ENST00000597156,;CTD-3193O13.9,intron_variant,,ENST00000593356,;	0.0484						MODERATE	2267-2335/4041					Transcript			common_variant	ENSP00000438970	0.011				1	
CLVS1	0	LGGM	GRCh37	8	62371062	62371062	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	17	3	.	.	ENST00000519846.1:c.938C>A	p.Ser313Ter	p.S313*	ENST00000519846		313	tCg/tAg	0	1		UPI000007472D	0	NA	ENST00000325897		ENSG00000177182	23139		20	0		HGNC	p.S34X		CLVS1		SNV							ENST00000518592	protein_coding	getma.org/?cm=var&var=hg19,8,62371062,C,A&fts=all		hmmpanther:PTHR10174,hmmpanther:PTHR10174:SF72		S/*		A	NA	1256/3486		NA		G3V122_HUMAN,E5RK22_HUMAN,E5RI68_HUMAN				CLVS1,stop_gained,p.Ser313Ter,ENST00000519846,;CLVS1,stop_gained,p.Ser313Ter,ENST00000325897,NM_173519.2;CLVS1,stop_gained,p.Ser34Ter,ENST00000518592,;CLVS1,stop_gained,p.Ser34Ter,ENST00000520712,;CLVS1,downstream_gene_variant,,ENST00000524095,;CLVS1,non_coding_transcript_exon_variant,,ENST00000522928,;CLVS1,downstream_gene_variant,,ENST00000518426,;							HIGH	938/1065	S313*	CLVS1_HUMAN			Transcript			.	ENSP00000325506		CCDS6176.1			1	
KMT2A	0	LGGM	GRCh37	11	118355640	118355640	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	12	3	.	.	ENST00000534358.1:c.4282A>G	p.Ile1428Val	p.I1428V	ENST00000534358	NM_005933.3	1428	Ata/Gta	0	1		UPI00001BE8DF	0	NA	ENST00000389506		ENSG00000118058	7132		15	-0.57		HGNC	p.I1428V	COSM338947	KMT2A		SNV			1			1	ENST00000534358	protein_coding	getma.org/?cm=var&var=hg19,11,118355640,A,G&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF302,PIRSF_domain:PIRSF010354		I/V		G	neutral	4282/13655		getma.org/?cm=msa&ty=f&p=MLL1_HUMAN&rb=1395&re=1480&var=I1428V		Q9UPD0_HUMAN,Q9UM91_HUMAN,Q9HBJ4_HUMAN,B4DIJ7_HUMAN				KMT2A,missense_variant,p.Ile1428Val,ENST00000534358,NM_005933.3,NM_001197104.1;KMT2A,missense_variant,p.Ile1428Val,ENST00000389506,;KMT2A,intron_variant,,ENST00000354520,;KMT2A,intron_variant,,ENST00000392873,;KMT2A,downstream_gene_variant,,ENST00000531904,;KMT2A,downstream_gene_variant,,ENST00000420751,;					1		MODERATE	4282/11910	I1428V	KMT2A_HUMAN			Transcript		benign(0.035)	.	ENSP00000374157		CCDS31686.1			1	
COLEC11	0	LGGM	GRCh37	2	3691474	3691474	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	11	3	.	.	ENST00000418971.2:c.624G>A	p.Ala208=	p.A208=	ENST00000418971	NM_001255985.1	208	gcG/gcA	0	1		UPI0000049DFF	0		ENST00000349077		ENSG00000118004	17213		14			HGNC	p.A168A	rs374212450	COLEC11		SNV	A:0.0002		1				ENST00000403096	protein_coding			PROSITE_profiles:PS50041,hmmpanther:PTHR24024:SF14,hmmpanther:PTHR24024,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		A	A:0	A		685/1259								COLEC11,synonymous_variant,p.=,ENST00000403096,NM_001255986.1;COLEC11,synonymous_variant,p.=,ENST00000236693,NM_199235.2;COLEC11,synonymous_variant,p.=,ENST00000382062,NM_001255983.1,NM_001255982.1;COLEC11,synonymous_variant,p.=,ENST00000418971,NM_001255985.1;COLEC11,synonymous_variant,p.=,ENST00000349077,NM_024027.4;COLEC11,synonymous_variant,p.=,ENST00000402794,NM_001255987.1;COLEC11,synonymous_variant,p.=,ENST00000402922,NM_001255988.1;COLEC11,synonymous_variant,p.=,ENST00000404205,NM_001255989.1;COLEC11,downstream_gene_variant,,ENST00000438814,;COLEC11,non_coding_transcript_exon_variant,,ENST00000487365,;COLEC11,non_coding_transcript_exon_variant,,ENST00000460971,;COLEC11,3_prime_UTR_variant,,ENST00000416132,;							LOW	582/816		COL11_HUMAN			Transcript			.	ENSP00000339168		CCDS1649.1			1	
CLCN7	0	LGGM	GRCh37	16	1501640	1501640	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	2	3	.	.	ENST00000382745.4:c.1431C>T	p.Leu477=	p.L477=	ENST00000382745	NM_001287.5	477	ctC/ctT	0	1	1	UPI000004904C	0		ENST00000382745		ENSG00000103249	2025		5			HGNC	p.L453L		CLCN7		SNV			1				ENST00000448525	protein_coding			hmmpanther:PTHR11689:SF14,hmmpanther:PTHR11689,Gene3D:1otsB00,Pfam_domain:PF00654,Superfamily_domains:SSF81340		L		A		2037/4720				Q9BSM4_HUMAN,Q96RY8_HUMAN,I3L470_HUMAN,B3KXZ3_HUMAN			YES	CLCN7,synonymous_variant,p.=,ENST00000382745,NM_001287.5;CLCN7,synonymous_variant,p.=,ENST00000448525,NM_001114331.2;CLCN7,synonymous_variant,p.=,ENST00000262318,;LA16c-390E6.4,upstream_gene_variant,,ENST00000563610,;CLCN7,non_coding_transcript_exon_variant,,ENST00000563642,;CLCN7,upstream_gene_variant,,ENST00000565092,;CLCN7,downstream_gene_variant,,ENST00000563822,;CLCN7,upstream_gene_variant,,ENST00000567836,;CLCN7,upstream_gene_variant,,ENST00000567789,;							LOW	1431/2418		CLCN7_HUMAN			Transcript			.	ENSP00000372193		CCDS32361.1			1	
ACBD5	0	LGGM	GRCh37	10	27529346	27529346	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	24	3	.	.	ENST00000396271.3:c.83G>T	p.Arg28Leu	p.R28L	ENST00000396271	NM_145698.3	28	cGg/cTg	0	1		UPI000046FE29	0	NA	ENST00000375888		ENSG00000107897	23338		27	0.695		HGNC	p.R26L		ACBD5		SNV							ENST00000375888	protein_coding	getma.org/?cm=var&var=hg19,10,27529346,C,A&fts=all		hmmpanther:PTHR23310,hmmpanther:PTHR23310:SF6,PIRSF_domain:PIRSF002412		R/L		A	neutral	142/1747		getma.org/?cm=msa&ty=f&p=ACBD5_HUMAN&rb=1&re=40&var=R26L	tolerated_low_confidence(0.07)					ACBD5,missense_variant,p.Arg28Leu,ENST00000396271,NM_145698.3,NM_001271512.1;ACBD5,missense_variant,p.Arg26Leu,ENST00000375888,;ACBD5,missense_variant,p.Arg35Leu,ENST00000426079,;ACBD5,5_prime_UTR_variant,,ENST00000375905,NM_001042473.2;ACBD5,5_prime_UTR_variant,,ENST00000375901,;ACBD5,5_prime_UTR_variant,,ENST00000375897,;ACBD5,5_prime_UTR_variant,,ENST00000412279,;RP11-85G18.6,upstream_gene_variant,,ENST00000574842,;AL160291.1,upstream_gene_variant,,ENST00000578607,;ACBD5,non_coding_transcript_exon_variant,,ENST00000476758,;							MODERATE	77/1605	R26L	ACBD5_HUMAN			Transcript		benign(0.005)	.	ENSP00000365049					1	
EFNA4	0	LGGM	GRCh37	1	155041352	155041352	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	24	3	.	.	ENST00000427683.2:c.470-143G>T		*157*	ENST00000427683				0	1		UPI0000129C90	0	NA	ENST00000368409		ENSG00000243364	3224		27	0.55		HGNC	p.G165W		EFNA4		SNV							ENST00000368409	protein_coding	getma.org/?cm=var&var=hg19,1,155041352,G,T&fts=all		hmmpanther:PTHR11304,hmmpanther:PTHR11304:SF6		G/W		T	neutral	586/1263		getma.org/?cm=msa&ty=f&p=EFNA4_HUMAN&rb=158&re=201&var=G165W	tolerated(0.1)					EFNA4,missense_variant,p.Gly165Trp,ENST00000368409,NM_005227.2;EFNA4,intron_variant,,ENST00000359751,NM_182690.2,NM_182689.1;EFNA4,intron_variant,,ENST00000427683,;EFNA3,intron_variant,,ENST00000505139,;EFNA3,intron_variant,,ENST00000556931,;							MODERATE	493/606	G165W	EFNA4_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000357394		CCDS1089.1			1	
TMED10	0	LGGM	GRCh37	14	75643161	75643161	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	13	3	.	.	ENST00000303575.4:c.122G>T	p.Arg41Leu	p.R41L	ENST00000303575	NM_006827.5	41	cGc/cTc	0	1	1	UPI0000137068	0	NA	ENST00000303575		ENSG00000170348	16998		16	2.8		HGNC	p.R41L		TMED10		SNV							ENST00000555873	protein_coding	getma.org/?cm=var&var=hg19,14,75643161,C,A&fts=all		Pfam_domain:PF01105,PROSITE_profiles:PS50866,hmmpanther:PTHR22811,hmmpanther:PTHR22811:SF58		R/L		A	medium	174/4127		getma.org/?cm=msa&ty=f&p=TMEDA_HUMAN&rb=31&re=213&var=R41L	tolerated(0.19)	B4DZH3_HUMAN			YES	TMED10,missense_variant,p.Arg41Leu,ENST00000303575,NM_006827.5;TMED10,missense_variant,p.Arg41Leu,ENST00000555873,;TMED10,non_coding_transcript_exon_variant,,ENST00000555085,;							MODERATE	122/660	R41L	TMEDA_HUMAN			Transcript		benign(0.087)	.	ENSP00000303145		CCDS9840.1			1	
CADPS	0	LGGM	GRCh37	3	62535709	62535709	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	35	3	.	.	ENST00000383710.4:c.1835G>A	p.Arg612His	p.R612H	ENST00000383710	NM_003716.3	612	cGc/cAc	0	1	1	UPI00001C036A	0	getma.org/pdb.php?prot=CAPS1_HUMAN&from=521&to=624&var=R612H	ENST00000383710		ENSG00000163618	1426		38	2.045		HGNC	p.R107H		CADPS		SNV							ENST00000542833	protein_coding	getma.org/?cm=var&var=hg19,3,62535709,C,T&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166,PROSITE_profiles:PS50003		R/H		T	medium	2185/5471		getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=521&re=624&var=R612H	deleterious(0.03)				YES	CADPS,missense_variant,p.Arg612His,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Arg612His,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Arg612His,ENST00000283269,NM_183394.2;CADPS,missense_variant,p.Arg107His,ENST00000542833,;CADPS,missense_variant,p.Arg43His,ENST00000478434,;CADPS,non_coding_transcript_exon_variant,,ENST00000490424,;							MODERATE	1835/4062	R612H	CAPS1_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000373215		CCDS46858.1			1	
PALM2-AKAP2	0	LGGM	GRCh37	9	112900656	112900656	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	24	3	.	.	ENST00000374530.3:c.2832C>A	p.Ser944=	p.S944=	ENST00000374530	NM_007203.4	944	tcC/tcA	0	1	1	UPI0000125755	0		ENST00000374530		ENSG00000157654	33529		27			HGNC	p.S944S		PALM2-AKAP2		SNV							ENST00000302798	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10498,hmmpanther:PTHR10498:SF10,Pfam_domain:PF15304		S		A		3012/7507							YES	PALM2-AKAP2,synonymous_variant,p.=,ENST00000374530,NM_007203.4,NM_147150.2;AKAP2,synonymous_variant,p.=,ENST00000374525,NM_001004065.4;PALM2-AKAP2,synonymous_variant,p.=,ENST00000302798,;AKAP2,synonymous_variant,p.=,ENST00000434623,NM_001198656.1;AKAP2,synonymous_variant,p.=,ENST00000555236,;AKAP2,synonymous_variant,p.=,ENST00000510514,;AKAP2,synonymous_variant,p.=,ENST00000259318,NM_001136562.2;AKAP2,synonymous_variant,p.=,ENST00000480388,;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,;AKAP2,non_coding_transcript_exon_variant,,ENST00000482335,;AKAP2,downstream_gene_variant,,ENST00000471798,;AKAP2,intron_variant,,ENST00000495980,;							LOW	2832/3312					Transcript			.	ENSP00000363654		CCDS35100.1			1	
CHD7	0	LGGM	GRCh37	8	61757887	61757887	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	39	3	.	.	ENST00000423902.2:c.5129C>T	p.Ala1710Val	p.A1710V	ENST00000423902	NM_017780.3	1710	gCc/gTc	0	1	1	UPI0000251DA6	0	NA	ENST00000423902		ENSG00000171316	20626		42	1.32		HGNC	p.A1710V	rs776964640	CHD7		SNV			1				ENST00000307121	protein_coding	getma.org/?cm=var&var=hg19,8,61757887,C,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551		A/V		T	low	5608/10446		getma.org/?cm=msa&ty=f&p=CHD7_HUMAN&rb=1605&re=1804&var=A1710V		H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,missense_variant,p.Ala1710Val,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;							MODERATE	5129/8994	A1710V	CHD7_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000392028	8.27E-06	CCDS47865.1			1	
DUSP3	0	LGGM	GRCh37	17	41852101	41852101	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	19	3	.	.	ENST00000226004.3:c.331C>A	p.Gln111Lys	p.Q111K	ENST00000226004	NM_004090.3	111	Cag/Aag	0	1	1	UPI000012995E	0	getma.org/pdb.php?prot=DUS3_HUMAN&from=37&to=176&var=Q111K	ENST00000226004		ENSG00000108861	3069		22	-0.565		HGNC	p.Q111K		DUSP3		SNV							ENST00000226004	protein_coding	getma.org/?cm=var&var=hg19,17,41852101,G,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00782,Prints_domain:PR01908,Prints_domain:PR01909,PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,hmmpanther:PTHR10159,SMART_domains:SM00195,Superfamily_domains:SSF52799		Q/K		T	neutral	395/4110		getma.org/?cm=msa&ty=f&p=DUS3_HUMAN&rb=37&re=176&var=Q111K	tolerated(1)				YES	DUSP3,missense_variant,p.Gln111Lys,ENST00000226004,NM_004090.3;DUSP3,missense_variant,p.Gln70Lys,ENST00000590935,;DUSP3,missense_variant,p.Gln70Lys,ENST00000397937,;DUSP3,missense_variant,p.Gln13Lys,ENST00000590753,;DUSP3,downstream_gene_variant,,ENST00000591618,;DUSP3,3_prime_UTR_variant,,ENST00000590342,;							MODERATE	331/558	Q111K	DUS3_HUMAN			Transcript		benign(0)	.	ENSP00000226004		CCDS11469.1			1	
KIF18A	0	LGGM	GRCh37	11	28119357	28119357	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	34	3	.	.	ENST00000263181.6:c.138C>A	p.Pro46=	p.P46=	ENST00000263181	NM_031217.3	46	ccC/ccA	0	1	1	UPI0000037CCC	0		ENST00000263181		ENSG00000121621	29441		37			HGNC	p.P46P		KIF18A		SNV							ENST00000263181	protein_coding			Gene3D:3.40.850.10,Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF399,SMART_domains:SM00129,Superfamily_domains:SSF52540		P		T		429/3568							YES	KIF18A,synonymous_variant,p.=,ENST00000263181,NM_031217.3;KIF18A,non_coding_transcript_exon_variant,,ENST00000533466,;KIF18A,non_coding_transcript_exon_variant,,ENST00000526288,;							LOW	138/2697		KI18A_HUMAN			Transcript			.	ENSP00000263181		CCDS7867.1			1	
ZNF99	0	LGGM	GRCh37	19	22940254	22940254	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	43	3	.	.	ENST00000596209.1:c.2457T>C	p.Cys819=	p.C819=	ENST00000596209	NM_001080409.2	819	tgT/tgC	0	1	1	UPI0000426011	0		ENST00000596209		ENSG00000213973	13175		46			HGNC	p.C728C		ZNF99		SNV							ENST00000397104	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,PROSITE_profiles:PS50157		C		G		2548/2686				M0R335_HUMAN			YES	ZNF99,synonymous_variant,p.=,ENST00000397104,;ZNF99,synonymous_variant,p.=,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							LOW	2457/2595					Transcript			.	ENSP00000472969		CCDS59369.1			1	
MOSPD2	0	LGGM	GRCh37	X	14930377	14930377	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	2	3	.	.	ENST00000380492.3:c.886C>A	p.Pro296Thr	p.P296T	ENST00000380492	NM_152581.3	296	Cca/Aca	0	1	1	UPI00000735BA	0	NA	ENST00000380492		ENSG00000130150	28381		5	0.755		HGNC	p.P296T		MOSPD2		SNV							ENST00000380492	protein_coding	getma.org/?cm=var&var=hg19,X,14930377,C,A&fts=all		hmmpanther:PTHR19993,hmmpanther:PTHR19993:SF1		P/T		A	neutral	974/4163		getma.org/?cm=msa&ty=f&p=MSPD2_HUMAN&rb=235&re=326&var=P296T	tolerated(0.4)				YES	MOSPD2,missense_variant,p.Pro296Thr,ENST00000380492,NM_152581.3,NM_001177475.1;MOSPD2,missense_variant,p.Pro296Thr,ENST00000482354,;MOSPD2,missense_variant,p.Pro83Thr,ENST00000460386,;MOSPD2,non_coding_transcript_exon_variant,,ENST00000495110,;							MODERATE	886/1557	P296T	MSPD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000369860		CCDS14162.1			1	
TIMD4	0	LGGM	GRCh37	5	156381666	156381666	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	15	3	.	.	ENST00000274532.2:c.160T>C	p.Trp54Arg	p.W54R	ENST00000274532	NM_138379.2	54	Tgg/Cgg	0	1	1	UPI000013DA13	0	getma.org/pdb.php?prot=TIMD4_HUMAN&from=19&to=139&var=W54R	ENST00000274532		ENSG00000145850	25132		18	3.37		HGNC	p.W54R	rs750846321	TIMD4		SNV							ENST00000407087	protein_coding	getma.org/?cm=var&var=hg19,5,156381666,A,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR15498:SF29,hmmpanther:PTHR15498,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		W/R		G	medium	217/1369	1.50E-05	getma.org/?cm=msa&ty=f&p=TIMD4_HUMAN&rb=19&re=139&var=W54R	deleterious(0)	B5MCV9_HUMAN			YES	TIMD4,missense_variant,p.Trp54Arg,ENST00000274532,NM_138379.2;TIMD4,missense_variant,p.Trp54Arg,ENST00000407087,NM_001146726.1;							MODERATE	160/1137	W54R	TIMD4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000274532	8.24E-06	CCDS4332.1			1	
CELSR2	0	LGGM	GRCh37	1	109810516	109810516	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	21	4	.	.	ENST00000271332.3:c.6152G>A	p.Arg2051His	p.R2051H	ENST00000271332	NM_001408.2	2051	cGc/cAc	0	1	1	UPI00000015B6	0	NA	ENST00000271332		ENSG00000143126	3231		25	0		HGNC	p.R2051H	rs781660638	CELSR2		SNV							ENST00000271332	protein_coding	getma.org/?cm=var&var=hg19,1,109810516,G,A&fts=all		Pfam_domain:PF12003,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF32		R/H		A	neutral	6213/10534		getma.org/?cm=msa&ty=f&p=CELR2_HUMAN&rb=2044&re=2290&var=R2051H	tolerated(0.14)				YES	CELSR2,missense_variant,p.Arg2051His,ENST00000271332,NM_001408.2;CELSR2,upstream_gene_variant,,ENST00000498157,;CELSR2,upstream_gene_variant,,ENST00000489018,;CELSR2,downstream_gene_variant,,ENST00000459940,;	0.000117						MODERATE	6152/8772	R2051H	CELR2_HUMAN			Transcript		benign(0.021)	.	ENSP00000271332	8.24E-06	CCDS796.1			1	
SLC9C2	0	LGGM	GRCh37	1	173493115	173493115	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	40	4	.	.	ENST00000367714.3:c.2633T>A	p.Phe878Tyr	p.F878Y	ENST00000367714	NM_178527.3	878	tTc/tAc	0	1	1	UPI0000197379	0	NA	ENST00000367714		ENSG00000162753	28664		44	2.28		HGNC	p.F878Y		SLC9C2		SNV							ENST00000367714	protein_coding	getma.org/?cm=var&var=hg19,1,173493115,A,T&fts=all		Gene3D:2.60.120.10,hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF91,Superfamily_domains:SSF51206		F/Y		T	medium	3056/4428		getma.org/?cm=msa&ty=f&p=S9A11_HUMAN&rb=744&re=884&var=F878Y	deleterious(0)	F5H342_HUMAN			YES	SLC9C2,missense_variant,p.Phe878Tyr,ENST00000367714,NM_178527.3;SLC9C2,downstream_gene_variant,,ENST00000536496,;SLC9C2,non_coding_transcript_exon_variant,,ENST00000466087,;							MODERATE	2633/3375	F878Y	SL9C2_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000356687		CCDS1308.1			1	
GDPD2	0	LGGM	GRCh37	X	69646224	69646224	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	7	4	.	.	ENST00000453994.2:c.367C>A	p.Leu123Met	p.L123M	ENST00000453994	NM_001171192.1	123	Ctg/Atg	0	1		UPI000004C627	0	NA	ENST00000374382		ENSG00000130055	25974		11	2.215		HGNC	p.L123M		GDPD2		SNV							ENST00000453994	protein_coding	getma.org/?cm=var&var=hg19,X,69646224,C,A&fts=all		hmmpanther:PTHR23344,hmmpanther:PTHR23344:SF1,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/M		A	medium	618/2169		getma.org/?cm=msa&ty=f&p=GDPD2_HUMAN&rb=1&re=200&var=L123M	tolerated(0.21)					GDPD2,missense_variant,p.Leu123Met,ENST00000453994,NM_001171192.1;GDPD2,missense_variant,p.Leu44Met,ENST00000536730,NM_001171193.1;GDPD2,missense_variant,p.Leu123Met,ENST00000374382,NM_017711.3;GDPD2,missense_variant,p.Leu44Met,ENST00000538649,NM_001171191.1;GDPD2,non_coding_transcript_exon_variant,,ENST00000472623,;							MODERATE	367/1620	L123M	GDPD2_HUMAN			Transcript		benign(0.287)	.	ENSP00000363503		CCDS14402.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43840468	43840468	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	23	4	.	.	ENST00000389420.3:c.2127A>T	p.Lys709Asn	p.K709N	ENST00000389420	NM_025003.3	709	aaA/aaT	0	1	1	UPI00004565F4	0	getma.org/pdb.php?prot=ATS20_HUMAN&from=611&to=720&var=K709N	ENST00000389420		ENSG00000173157	17178		27	2.61		HGNC	p.K709N		ADAMTS20		SNV							ENST00000389420	protein_coding	getma.org/?cm=var&var=hg19,12,43840468,T,A&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Prints_domain:PR01857		K/N		A	medium	2127/6076		getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=611&re=720&var=K709N	deleterious(0)				YES	ADAMTS20,missense_variant,p.Lys709Asn,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Lys709Asn,ENST00000553158,;							MODERATE	2127/5733	K709N	ATS20_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000374071		CCDS31778.2			1	
LTBP4	0	LGGM	GRCh37	19	41111117	41111117	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	17	4	.	.	ENST00000308370.7:c.628C>A	p.Arg210Ser	p.R210S	ENST00000308370	NM_001042544.1	210	Cgc/Agc	0	1	1	UPI000179A7A0	0	NA	ENST00000308370		ENSG00000090006	6717		21	0.55		HGNC	p.R143S		LTBP4		SNV			1				ENST00000396819	protein_coding	getma.org/?cm=var&var=hg19,19,41111117,C,A&fts=all		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		R/S		A	neutral	628/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=201&re=356&var=R210S	deleterious(0.02)				YES	LTBP4,missense_variant,p.Arg210Ser,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Arg173Ser,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Arg143Ser,ENST00000396819,NM_001042545.1;LTBP4,5_prime_UTR_variant,,ENST00000545697,;RN7SL758P,downstream_gene_variant,,ENST00000580450,;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,,ENST00000599016,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000595529,;LTBP4,downstream_gene_variant,,ENST00000593738,;							MODERATE	628/4872	R210S	LTBP4_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000311905					1	
PTPRB	0	LGGM	GRCh37	12	71029547	71029547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	41	5	.	.	ENST00000334414.6:c.355G>T	p.Val119Leu	p.V119L	ENST00000334414	NM_001109754.2	119	Gtg/Ttg	0	1	1	UPI00002294FA	0	NA	ENST00000334414		ENSG00000127329	9665		46	0.895		HGNC	p.V119L		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,71029547,C,A&fts=all		Gene3D:2.80.10.50,Superfamily_domains:SSF50370		V/L		A	low	400/11332		getma.org/?cm=msa&ty=f&p=F8VSD5_HUMAN&rb=1&re=200&var=V118L	deleterious_low_confidence(0.04)				YES	PTPRB,missense_variant,p.Val119Leu,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Val119Leu,ENST00000550358,;PTPRB,missense_variant,p.Val118Leu,ENST00000551525,;PTPRB,intron_variant,,ENST00000548122,;PTPRR,downstream_gene_variant,,ENST00000283228,NM_002849.3;PTPRR,downstream_gene_variant,,ENST00000440835,NM_130846.2;PTPRR,downstream_gene_variant,,ENST00000378778,NM_001207016.1;PTPRR,downstream_gene_variant,,ENST00000342084,NM_001207015.1;PTPRR,downstream_gene_variant,,ENST00000549308,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRR,downstream_gene_variant,,ENST00000537619,;PTPRR,downstream_gene_variant,,ENST00000547752,;PTPRR,downstream_gene_variant,,ENST00000549107,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;PTPRR,downstream_gene_variant,,ENST00000551219,;							MODERATE	355/6648	V118L	PTPRB_HUMAN			Transcript		benign(0.048)	.	ENSP00000334928		CCDS44943.1			1	
PCDHB4	0	LGGM	GRCh37	5	140503853	140503853	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	37	5	.	.	ENST00000194152.1:c.2273C>T	p.Ser758Phe	p.S758F	ENST00000194152	NM_018938.2	758	tCt/tTt	0	1	1	UPI00001273DF	0	NA	ENST00000194152		ENSG00000081818	8689		42	3.925		HGNC	p.S758F		PCDHB4		SNV							ENST00000194152	protein_coding	getma.org/?cm=var&var=hg19,5,140503853,C,T&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55		S/F		T	high	2273/3621		getma.org/?cm=msa&ty=f&p=PCDB4_HUMAN&rb=663&re=795&var=S758F	deleterious_low_confidence(0)				YES	PCDHB4,missense_variant,p.Ser758Phe,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;							MODERATE	2273/2388	S758F	PCDB4_HUMAN			Transcript		benign(0.029)	.	ENSP00000194152		CCDS4246.1			1	
TMEM184A	0	LGGM	GRCh37	7	1595113	1595113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	12	5	.	.	ENST00000297477.5:c.8A>T	p.Asn3Ile	p.N3I	ENST00000297477	NM_001097620.1	3	aAt/aTt	0	1	1	UPI000013E413	0	NA	ENST00000297477		ENSG00000164855	28797		17	0.805		HGNC	p.N3I		TMEM184A		SNV							ENST00000319018	protein_coding	getma.org/?cm=var&var=hg19,7,1595113,T,A&fts=all		hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20		N/I		A	low	325/6276		getma.org/?cm=msa&ty=f&p=T184A_HUMAN&rb=1&re=51&var=N3I	deleterious_low_confidence(0)	C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN			YES	TMEM184A,missense_variant,p.Asn3Ile,ENST00000297477,NM_001097620.1;TMEM184A,missense_variant,p.Asn3Ile,ENST00000319010,;TMEM184A,missense_variant,p.Asn3Ile,ENST00000441933,;TMEM184A,missense_variant,p.Asn3Ile,ENST00000431208,;TMEM184A,missense_variant,p.Asn3Ile,ENST00000414730,;TMEM184A,missense_variant,p.Asn3Ile,ENST00000319018,;TMEM184A,missense_variant,p.Asn3Ile,ENST00000421923,;TMEM184A,upstream_gene_variant,,ENST00000468535,;TMEM184A,upstream_gene_variant,,ENST00000474813,;							MODERATE	8/1242	N3I	T184A_HUMAN			Transcript		benign(0.312)	.	ENSP00000297477		CCDS43537.1			1	
HMCN1	0	LGGM	GRCh37	1	186076070	186076070	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	29	5	.	.	ENST00000271588.4:c.10825G>A	p.Asp3609Asn	p.D3609N	ENST00000271588	NM_031935.2	3609	Gat/Aat	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3530&to=3616&var=D3609N	ENST00000271588		ENSG00000143341	19194		34	0.845		HGNC	p.D3609N		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186076070,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00409,Superfamily_domains:SSF48726		D/N		A	low	11054/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3530&re=3616&var=D3609N					YES	HMCN1,missense_variant,p.Asp3609Asn,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Asp3609Asn,ENST00000367492,;							MODERATE	10825/16908	D3609N	HMCN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000271588		CCDS30956.1			1	
ARSB	0	LGGM	GRCh37	5	78251252	78251252	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	11	5	.	.	ENST00000264914.4:c.764A>G	p.Tyr255Cys	p.Y255C	ENST00000264914	NM_000046.3	255	tAt/tGt	0	1	1	UPI00001260A3	0	getma.org/pdb.php?prot=ARSB_HUMAN&from=45&to=486&var=Y255C	ENST00000264914		ENSG00000113273	714		16	3.08		HGNC	p.Y255C		ARSB		SNV			1				ENST00000264914	protein_coding	getma.org/?cm=var&var=hg19,5,78251252,T,C&fts=all		hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF206,Gene3D:3.40.720.10,Pfam_domain:PF00884,Superfamily_domains:SSF53649		Y/C		C	medium	1301/5327		getma.org/?cm=msa&ty=f&p=ARSB_HUMAN&rb=45&re=486&var=Y255C	deleterious(0)	E5RHC4_HUMAN			YES	ARSB,missense_variant,p.Tyr255Cys,ENST00000264914,NM_000046.3;ARSB,missense_variant,p.Tyr255Cys,ENST00000396151,NM_198709.2;ARSB,missense_variant,p.Tyr255Cys,ENST00000565165,;							MODERATE	764/1602	Y255C	ARSB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264914		CCDS4043.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43840472	43840472	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	24	5	.	.	ENST00000389420.3:c.2123A>C	p.Asp708Ala	p.D708A	ENST00000389420	NM_025003.3	708	gAc/gCc	0	1	1	UPI00004565F4	0	getma.org/pdb.php?prot=ATS20_HUMAN&from=611&to=720&var=D708A	ENST00000389420		ENSG00000173157	17178		29	4.305		HGNC	p.D708A		ADAMTS20		SNV							ENST00000389420	protein_coding	getma.org/?cm=var&var=hg19,12,43840472,T,G&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Prints_domain:PR01857		D/A		G	high	2123/6076		getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=611&re=720&var=D708A	deleterious(0)				YES	ADAMTS20,missense_variant,p.Asp708Ala,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Asp708Ala,ENST00000553158,;							MODERATE	2123/5733	D708A	ATS20_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374071		CCDS31778.2			1	
MLLT1	0	LGGM	GRCh37	19	6213742	6213742	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	17	5	.	.	ENST00000252674.7:c.1474G>T	p.Asp492Tyr	p.D492Y	ENST00000252674	NM_005934.3	492	Gac/Tac	0	1	1	UPI000006F7B3	0	NA	ENST00000252674		ENSG00000130382	7134		22	2.395		HGNC	p.D492Y		MLLT1		SNV							ENST00000252674	protein_coding	getma.org/?cm=var&var=hg19,19,6213742,C,A&fts=all		hmmpanther:PTHR23195,hmmpanther:PTHR23195:SF14		D/Y		A	medium	1638/1931		getma.org/?cm=msa&ty=f&p=ENL_HUMAN&rb=152&re=557&var=D492Y	deleterious(0)				YES	MLLT1,missense_variant,p.Asp492Tyr,ENST00000252674,NM_005934.3;CTC-503J8.6,upstream_gene_variant,,ENST00000586154,;CTC-503J8.6,upstream_gene_variant,,ENST00000587473,;MLLT1,non_coding_transcript_exon_variant,,ENST00000585588,;							MODERATE	1474/1680	D492Y	ENL_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000252674		CCDS12160.1			1	
BARD1	0	LGGM	GRCh37	2	215593706	215593706	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	12	5	.	.	ENST00000260947.4:c.2028C>T	p.Tyr676=	p.Y676=	ENST00000260947	NM_000465.2	676	taC/taT	0	1	1	UPI000013D11D	0		ENST00000260947		ENSG00000138376	952		17			HGNC	p.T531I		BARD1		SNV			1				ENST00000449967	protein_coding			PROSITE_profiles:PS50172,hmmpanther:PTHR24171:SF8,hmmpanther:PTHR24171,Gene3D:3.40.50.10190,SMART_domains:SM00292,Superfamily_domains:SSF52113		Y		A		2163/5499							YES	BARD1,missense_variant,p.Thr531Ile,ENST00000449967,;BARD1,synonymous_variant,p.=,ENST00000260947,NM_000465.2,NM_001282548.1,NM_001282545.1,NM_001282543.1;BARD1,synonymous_variant,p.=,ENST00000432456,;BARD1,downstream_gene_variant,,ENST00000421162,;BARD1,non_coding_transcript_exon_variant,,ENST00000471590,;BARD1,3_prime_UTR_variant,,ENST00000455743,;							LOW	2028/2334		BARD1_HUMAN			Transcript			.	ENSP00000260947		CCDS2397.1			1	
SLC1A2	0	LGGM	GRCh37	11	35336605	35336605	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	31	6	.	.	ENST00000278379.3:c.275T>A	p.Leu92His	p.L92H	ENST00000278379	NM_004171.3	92	cTc/cAc	0	1	1	UPI0000129B12	0	getma.org/pdb.php?prot=EAA2_HUMAN&from=46&to=496&var=L92H	ENST00000278379		ENSG00000110436	10940		37	3.865		HGNC	p.L83H		SLC1A2		SNV							ENST00000395753	protein_coding	getma.org/?cm=var&var=hg19,11,35336605,A,T&fts=all		Superfamily_domains:0053221,Gene3D:2nwlC00,Pfam_domain:PF00375,Prints_domain:PR00173,PROSITE_patterns:PS00713,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF43,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/H		T	high	558/11696		getma.org/?cm=msa&ty=f&p=EAA2_HUMAN&rb=46&re=496&var=L92H	deleterious(0)	A2A2U1_HUMAN			YES	SLC1A2,missense_variant,p.Leu92His,ENST00000278379,NM_004171.3;SLC1A2,missense_variant,p.Leu83His,ENST00000395753,NM_001252652.1;SLC1A2,missense_variant,p.Leu83His,ENST00000395750,NM_001195728.2;SLC1A2,missense_variant,p.Leu92His,ENST00000606205,;SLC1A2,missense_variant,p.Leu88His,ENST00000449068,;							MODERATE	275/1725	L92H	EAA2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000278379		CCDS31459.1			1	
ZNF71	0	LGGM	GRCh37	19	57133975	57133975	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	31	6	.	.	ENST00000328070.6:c.1320C>T	p.Cys440=	p.C440=	ENST00000328070	NM_021216.4	440	tgC/tgT	0	1	1	UPI00000437FA	0		ENST00000328070		ENSG00000197951	13141		37			HGNC	p.C440C		ZNF71		SNV							ENST00000328070	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF115,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		C		T		1554/5428				M0R0C0_HUMAN			YES	ZNF71,synonymous_variant,p.=,ENST00000328070,NM_021216.4;ZNF71,downstream_gene_variant,,ENST00000599599,;							LOW	1320/1470		ZNF71_HUMAN			Transcript			.	ENSP00000328245		CCDS12947.1			1	
TTC21B	0	LGGM	GRCh37	2	166755195	166755195	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	11	7	.	.	ENST00000243344.7:c.2950+1G>T		p.X984_splice	ENST00000243344	NM_024753.4			0	1	1	UPI000020900A	0		ENST00000243344		ENSG00000123607	25660		18			HGNC	-		TTC21B		SNV			1				ENST00000243344	protein_coding							A		-/5482				B3KU32_HUMAN			YES	TTC21B,splice_donor_variant,,ENST00000243344,NM_024753.4;TTC21B,non_coding_transcript_exon_variant,,ENST00000484129,;							HIGH	2950/3951		TT21B_HUMAN			Transcript			.	ENSP00000243344		CCDS33315.1			1	
ZNF341	0	LGGM	GRCh37	20	32379022	32379022	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	14	7	.	.	ENST00000342427.2:c.2243G>A	p.Ser748Asn	p.S748N	ENST00000342427	NM_032819.3	748	aGt/aAt	0	1		UPI0000470A07	0	NA	ENST00000375200		ENSG00000131061	15992		21	0.345		HGNC	p.S755N		ZNF341		SNV							ENST00000375200	protein_coding	getma.org/?cm=var&var=hg19,20,32379022,G,A&fts=all		hmmpanther:PTHR24388		S/N		A	neutral	2629/3682		getma.org/?cm=msa&ty=f&p=ZN341_HUMAN&rb=706&re=854&var=S755N	tolerated(0.51)					ZNF341,missense_variant,p.Ser755Asn,ENST00000375200,NM_001282933.1;ZNF341,missense_variant,p.Ser748Asn,ENST00000342427,NM_032819.3;RP4-553F4.6,intron_variant,,ENST00000443171,;RP4-553F4.6,intron_variant,,ENST00000423074,;RP4-553F4.6,intron_variant,,ENST00000439444,;ZNF341,3_prime_UTR_variant,,ENST00000483118,;ZNF341,3_prime_UTR_variant,,ENST00000497876,NM_001282935.1;ZNF341,non_coding_transcript_exon_variant,,ENST00000493497,;							MODERATE	2264/2565	S755N	ZN341_HUMAN			Transcript		benign(0)	.	ENSP00000364346					1	
RBP1	0	LGGM	GRCh37	3	139257680	139257680	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	29	7	.	.	ENST00000232219.2:c.381C>A	p.Phe127Leu	p.F127L	ENST00000232219	NM_002899.3	127	ttC/ttA	0	1	1	UPI000020A341	0	getma.org/pdb.php?prot=RET1_HUMAN&from=6&to=134&var=F65L	ENST00000232219		ENSG00000114115	9919		36	3.45		HGNC	p.F117L		RBP1		SNV							ENST00000487424	protein_coding	getma.org/?cm=var&var=hg19,3,139257680,G,T&fts=all		Gene3D:2.40.128.20,Pfam_domain:PF00061,Prints_domain:PR00178,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF56,Superfamily_domains:SSF50814		F/L		T	medium	492/898		getma.org/?cm=msa&ty=f&p=RET1_HUMAN&rb=6&re=134&var=F65L	deleterious(0.01)				YES	RBP1,missense_variant,p.Phe127Leu,ENST00000483943,NM_001130993.1;RBP1,missense_variant,p.Phe127Leu,ENST00000492918,NM_001130992.1;RBP1,missense_variant,p.Phe127Leu,ENST00000232219,NM_002899.3;RP11-319G6.1,intron_variant,,ENST00000515247,;RP11-319G6.1,upstream_gene_variant,,ENST00000381790,;RBP1,missense_variant,p.Phe117Leu,ENST00000487424,;							MODERATE	381/594	F65L				Transcript		probably_damaging(0.981)	.	ENSP00000232219		CCDS3110.2			1	
GRID2	0	LGGM	GRCh37	4	94693640	94693640	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	17	7	.	.	ENST00000282020.4:c.3015C>T	p.Thr1005=	p.T1005=	ENST00000282020	NM_001510.2	1005	acC/acT	0	1	1	UPI00001AEA78	0		ENST00000282020		ENSG00000152208	4576		24			HGNC	p.T1005T		GRID2		SNV			1				ENST00000282020	protein_coding					T		T		3273/5340				Q4W5S4_HUMAN,Q4W5L9_HUMAN,Q4W5F4_HUMAN,Q4W5B7_HUMAN,D6R976_HUMAN			YES	GRID2,synonymous_variant,p.=,ENST00000282020,NM_001510.2;GRID2,synonymous_variant,p.=,ENST00000510992,NM_001286838.1;							LOW	3015/3024		GRID2_HUMAN			Transcript			.	ENSP00000282020		CCDS3637.1			1	
ZNF268	0	LGGM	GRCh37	12	133768493	133768493	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	47	8	.	.	ENST00000536435.2:c.362-1G>A		p.X121_splice	ENST00000536435	NM_003415.2			0	1		UPI000013C33E	0		ENST00000228289		ENSG00000090612	13061		55			HGNC	-		ZNF268		SNV							ENST00000416488	protein_coding							A		-/3543				Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN				ZNF268,splice_acceptor_variant,,ENST00000536435,NM_003415.2,NM_001165885.1;ZNF268,splice_acceptor_variant,,ENST00000541009,NM_152943.2;ZNF268,splice_acceptor_variant,,ENST00000542986,;ZNF268,splice_acceptor_variant,,ENST00000228289,NM_001165882.2,NM_001165881.2;CTD-2140B24.4,splice_acceptor_variant,,ENST00000540096,;ZNF268,splice_acceptor_variant,,ENST00000416488,;ZNF268,splice_acceptor_variant,,ENST00000542711,NM_001165886.1;ZNF268,splice_acceptor_variant,,ENST00000541211,;ZNF268,splice_acceptor_variant,,ENST00000500625,;ZNF268,splice_acceptor_variant,,ENST00000592241,NM_001165887.1;ZNF268,splice_acceptor_variant,,ENST00000591951,;ZNF268,intron_variant,,ENST00000536899,NM_001165884.2;ZNF268,intron_variant,,ENST00000537565,;ZNF268,intron_variant,,ENST00000539248,NM_001165883.1;ZNF268,downstream_gene_variant,,ENST00000541975,;ZNF268,splice_acceptor_variant,,ENST00000588312,;ZNF268,non_coding_transcript_exon_variant,,ENST00000585488,;ZNF268,non_coding_transcript_exon_variant,,ENST00000534953,;ZNF268,downstream_gene_variant,,ENST00000546126,;ZNF268,downstream_gene_variant,,ENST00000537973,;							HIGH	362/2844		ZN268_HUMAN			Transcript			.	ENSP00000228289		CCDS45012.1			1	
ANO2	0	LGGM	GRCh37	12	5744345	5744345	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	37	8	.	.	ENST00000327087.8:c.1789G>A	p.Ala597Thr	p.A597T	ENST00000327087	NM_001278596.1	597	Gct/Act	0	1		UPI00000715DF	0	NA	ENST00000356134		ENSG00000047617	1183	9.06E-05	45	1.23		HGNC	p.A157T	rs748165730	ANO2		SNV							ENST00000545860	protein_coding	getma.org/?cm=var&var=hg19,12,5744345,C,T&fts=all		Pfam_domain:PF04547,hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF20,Transmembrane_helices:TMhelix		A/T		T	low	1864/3717	7.90E-05	getma.org/?cm=msa&ty=f&p=ANO2_HUMAN&rb=352&re=944&var=A602T	deleterious(0.04)	Q69YW4_HUMAN				ANO2,missense_variant,p.Ala598Thr,ENST00000546188,;ANO2,missense_variant,p.Ala597Thr,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,missense_variant,p.Ala598Thr,ENST00000356134,;ANO2,missense_variant,p.Ala157Thr,ENST00000545860,;ANO2,downstream_gene_variant,,ENST00000538154,;ANO2,downstream_gene_variant,,ENST00000542326,;							MODERATE	1792/3000	A602T	ANO2_HUMAN			Transcript		benign(0.245)	.	ENSP00000348453	4.96E-05				1	
EPHB4	0	LGGM	GRCh37	7	100410518	100410518	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	44	8	.	.	ENST00000358173.3:c.1969C>T	p.Gln657Ter	p.Q657*	ENST00000358173	NM_004444.4	657	Cag/Tag	0	1	1	UPI0000000DBB	0	NA	ENST00000358173		ENSG00000196411	3395		52	0		HGNC	p.Q657X		EPHB4		SNV							ENST00000360620	protein_coding	getma.org/?cm=var&var=hg19,7,100410518,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF296,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00219,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF56112		Q/*		A	NA	2438/4329		NA		Q541P7_HUMAN			YES	EPHB4,stop_gained,p.Gln657Ter,ENST00000358173,NM_004444.4;EPHB4,stop_gained,p.Gln657Ter,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,non_coding_transcript_exon_variant,,ENST00000467515,;							HIGH	1969/2964	Q657*	EPHB4_HUMAN			Transcript			.	ENSP00000350896		CCDS5706.1			1	
ZNF197	0	LGGM	GRCh37	3	44683886	44683886	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	23	8	.	.	ENST00000396058.1:c.1264G>C	p.Gly422Arg	p.G422R	ENST00000396058		422	Ggg/Cgg	0	1		UPI000013C317	0	getma.org/pdb.php?prot=ZN197_HUMAN&from=412&to=437&var=G422R	ENST00000344387		ENSG00000186448	12988		31	2.025		HGNC	p.G422R		ZNF197		SNV							ENST00000396058	protein_coding	getma.org/?cm=var&var=hg19,3,44683886,G,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF280,Superfamily_domains:SSF57667		G/R		C	medium	1449/3275		getma.org/?cm=msa&ty=f&p=ZN197_HUMAN&rb=392&re=457&var=G422R	deleterious(0)	C9JQH5_HUMAN				ZNF197,missense_variant,p.Gly422Arg,ENST00000396058,;ZNF197,missense_variant,p.Gly422Arg,ENST00000344387,NM_006991.3;ZNF197,intron_variant,,ENST00000383745,NM_001024855.1;ZNF197,intron_variant,,ENST00000383744,;RP11-944L7.4,intron_variant,,ENST00000457331,;ZNF197,intron_variant,,ENST00000334075,;							MODERATE	1264/3090	G422R	ZN197_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345809		CCDS2717.1			1	
OTOP1	0	LGGM	GRCh37	4	4214666	4214666	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	24	8	.	.	ENST00000296358.4:c.469G>T	p.Gly157Ter	p.G157*	ENST00000296358	NM_177998.1	157	Gga/Tga	0	1	1	UPI0000186945	0	NA	ENST00000296358		ENSG00000163982	19656		32	0		HGNC	p.G157X		OTOP1		SNV							ENST00000296358	protein_coding	getma.org/?cm=var&var=hg19,4,4214666,C,A&fts=all		Pfam_domain:PF03189,hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF19,Transmembrane_helices:TMhelix		G/*		A	NA	494/1864		NA					YES	OTOP1,stop_gained,p.Gly157Ter,ENST00000296358,NM_177998.1;							HIGH	469/1839	G157*	OTOP1_HUMAN			Transcript			.	ENSP00000296358		CCDS3372.1			1	
ZFYVE28	0	LGGM	GRCh37	4	2307060	2307060	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	8	8	.	.	ENST00000290974.2:c.1007A>G	p.Gln336Arg	p.Q336R	ENST00000290974	NM_020972.2	336	cAg/cGg	0	1	1	UPI00001C1E08	0	NA	ENST00000290974		ENSG00000159733	29334		16	2.095		HGNC	p.Q306R		ZFYVE28		SNV							ENST00000511071	protein_coding	getma.org/?cm=var&var=hg19,4,2307060,T,C&fts=all		hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF140		Q/R		C	medium	1347/4131		getma.org/?cm=msa&ty=f&p=LST2_HUMAN&rb=293&re=706&var=Q336R	deleterious_low_confidence(0.01)	Q49AA1_HUMAN,D6RID3_HUMAN			YES	ZFYVE28,missense_variant,p.Gln336Arg,ENST00000290974,NM_020972.2;ZFYVE28,missense_variant,p.Gln306Arg,ENST00000511071,NM_001172656.1;ZFYVE28,missense_variant,p.Gln266Arg,ENST00000515312,NM_001172659.1;RP11-478C1.7,intron_variant,,ENST00000510632,;							MODERATE	1007/2664	Q336R	LST2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000290974		CCDS33942.1			1	
USP50	0	LGGM	GRCh37	15	50833443	50833443	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	27	8	.	.	ENST00000532404.1:c.463A>G	p.Arg155Gly	p.R155G	ENST00000532404	NM_203494.4	155	Aga/Gga	0	1	1	UPI0001CB7F8F	0	getma.org/pdb.php?prot=UBP50_HUMAN&from=41&to=339&var=R160G	ENST00000532404		ENSG00000170236	20079		35	1.015		HGNC	p.R155G		USP50		SNV							ENST00000532404	protein_coding	getma.org/?cm=var&var=hg19,15,50833443,T,C&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF397,Pfam_domain:PF00443,Superfamily_domains:SSF54001		R/G		C	low	637/1386		getma.org/?cm=msa&ty=f&p=UBP50_HUMAN&rb=41&re=339&var=R160G	tolerated(0.06)	E9PP86_HUMAN			YES	USP50,missense_variant,p.Arg155Gly,ENST00000532404,NM_203494.4;USP50,intron_variant,,ENST00000530218,;USP50,synonymous_variant,p.=,ENST00000559105,;USP50,upstream_gene_variant,,ENST00000529349,;							MODERATE	463/1005	R160G				Transcript		possibly_damaging(0.827)	.	ENSP00000434676		CCDS53944.1			1	
NEK11	0	LGGM	GRCh37	3	130828690	130828690	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	20	9	.	.	ENST00000383366.4:c.380G>T	p.Gly127Val	p.G127V	ENST00000383366	NM_024800.4	127	gGa/gTa	0	1	1	UPI000013F25D	0	getma.org/pdb.php?prot=NEK11_HUMAN&from=29&to=287&var=G127V	ENST00000383366		ENSG00000114670	18593		29	2.275		HGNC	p.E72X		NEK11		SNV							ENST00000510474	protein_coding	getma.org/?cm=var&var=hg19,3,130828690,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24362:SF242,hmmpanther:PTHR24362,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/V		T	medium	673/2914		getma.org/?cm=msa&ty=f&p=NEK11_HUMAN&rb=29&re=287&var=G127V	deleterious(0)				YES	NEK11,missense_variant,p.Gly127Val,ENST00000383366,NM_024800.4;NEK11,missense_variant,p.Gly127Val,ENST00000429253,;NEK11,missense_variant,p.Gly127Val,ENST00000510688,NM_001146003.1;NEK11,missense_variant,p.Gly127Val,ENST00000510769,;NEK11,missense_variant,p.Gly127Val,ENST00000511262,NM_145910.3;NEK11,missense_variant,p.Gly127Val,ENST00000508196,;NEK11,missense_variant,p.Gly127Val,ENST00000507910,;NEK11,missense_variant,p.Gly127Val,ENST00000356918,;NEK11,5_prime_UTR_variant,,ENST00000412440,;AC121332.1,downstream_gene_variant,,ENST00000390784,;NEK11,non_coding_transcript_exon_variant,,ENST00000426022,;NEK11,non_coding_transcript_exon_variant,,ENST00000510926,;NEK11,stop_gained,p.Glu72Ter,ENST00000510474,;NEK11,missense_variant,p.Gly127Val,ENST00000514915,;NEK11,missense_variant,p.Gly71Val,ENST00000602792,;NEK11,non_coding_transcript_exon_variant,,ENST00000506695,;							MODERATE	380/1938	G127V	NEK11_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000372857		CCDS3069.1			1	
RSC1A1	0	LGGM	GRCh37	1	15986963	15986963	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	27	9	.	.	ENST00000345034.1:c.600A>T	p.Glu200Asp	p.E200D	ENST00000345034	NM_006511.1	200	gaA/gaT	0	1	1	UPI00000715AC	0	NA	ENST00000345034		ENSG00000215695	10458		36	0		HGNC	p.E200D		RSC1A1		SNV							ENST00000345034	protein_coding	getma.org/?cm=var&var=hg19,1,15986963,A,T&fts=all		hmmpanther:PTHR15397,hmmpanther:PTHR15397:SF2		E/D		T	neutral	600/1854		getma.org/?cm=msa&ty=f&p=RSCA1_HUMAN&rb=1&re=200&var=E200D	tolerated(0.27)				YES	RSC1A1,missense_variant,p.Glu200Asp,ENST00000345034,NM_006511.1;DDI2,3_prime_UTR_variant,,ENST00000480945,NM_032341.4;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,downstream_gene_variant,,ENST00000548451,;							MODERATE	600/1854	E200D	RSCA1_HUMAN			Transcript		benign(0.275)	.	ENSP00000341963		CCDS161.1			1	
TBX22	0	LGGM	GRCh37	X	79283499	79283499	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	5	9	.	.	ENST00000373294.5:c.873G>T	p.Leu291Phe	p.L291F	ENST00000373294	NM_016954.2	291	ttG/ttT	0	1	1	UPI00001377ED	0	NA	ENST00000373294		ENSG00000122145	11600		14	2.175		HGNC	p.L171F		TBX22		SNV			1				ENST00000373291	protein_coding	getma.org/?cm=var&var=hg19,X,79283499,G,T&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97		L/F		T	medium	901/2249		getma.org/?cm=msa&ty=f&p=TBX22_HUMAN&rb=285&re=484&var=L291F	deleterious(0.01)	C3TX51_HUMAN			YES	TBX22,missense_variant,p.Leu171Phe,ENST00000442340,NM_001109878.1,NM_001109879.1;TBX22,missense_variant,p.Leu291Phe,ENST00000373294,NM_016954.2;TBX22,missense_variant,p.Leu171Phe,ENST00000373291,;TBX22,missense_variant,p.Leu291Phe,ENST00000373296,;							MODERATE	873/1563	L291F	TBX22_HUMAN			Transcript		benign(0.194)	.	ENSP00000362390		CCDS14445.1			1	
C11orf30	0	LGGM	GRCh37	11	76224522	76224522	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	30	9	.	.	ENST00000529032.1:c.1456A>G	p.Met486Val	p.M486V	ENST00000529032		486	Atg/Gtg	0	1		UPI0000071307	0	NA	ENST00000334736		ENSG00000158636	18071		39	0.895		HGNC	p.M501V	rs753236718	C11orf30		SNV							ENST00000524767	protein_coding	getma.org/?cm=var&var=hg19,11,76224522,A,G&fts=all		hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF2		M/V		G	low	1599/5508	1.50E-05	getma.org/?cm=msa&ty=f&p=EMSY_HUMAN&rb=137&re=1320&var=M486V	tolerated_low_confidence(0.14)					C11orf30,missense_variant,p.Met486Val,ENST00000529032,;C11orf30,missense_variant,p.Met486Val,ENST00000334736,NM_020193.3;C11orf30,missense_variant,p.Met486Val,ENST00000343878,;C11orf30,missense_variant,p.Met501Val,ENST00000525038,;C11orf30,missense_variant,p.Met501Val,ENST00000524767,;C11orf30,missense_variant,p.Met487Val,ENST00000525919,;C11orf30,missense_variant,p.Met402Val,ENST00000524490,;C11orf30,missense_variant,p.Met500Val,ENST00000533248,;C11orf30,missense_variant,p.Met28Val,ENST00000531998,;C11orf30,missense_variant,p.Met55Val,ENST00000533972,;							MODERATE	1456/3969	M486V	EMSY_HUMAN			Transcript		benign(0.091)	.	ENSP00000334130	8.24E-06	CCDS8244.1			1	
NAA15	0	LGGM	GRCh37	4	140282950	140282950	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	19	9	.	.	ENST00000296543.5:c.1612T>C	p.Tyr538His	p.Y538H	ENST00000296543	NM_057175.3	538	Tat/Cat	0	1	1	UPI000004B631	0	NA	ENST00000296543		ENSG00000164134	30782		28	3.505		HGNC	p.Y538H		NAA15		SNV			1				ENST00000398947	protein_coding	getma.org/?cm=var&var=hg19,4,140282950,T,C&fts=all		PIRSF_domain:PIRSF000422,Pfam_domain:PF12569,hmmpanther:PTHR22767,hmmpanther:PTHR22767:SF4		Y/H		C	high	1935/6222		getma.org/?cm=msa&ty=f&p=NAA15_HUMAN&rb=187&re=698&var=Y538H	deleterious(0)				YES	NAA15,missense_variant,p.Tyr538His,ENST00000296543,NM_057175.3;NAA15,missense_variant,p.Tyr538His,ENST00000398947,;NAA15,downstream_gene_variant,,ENST00000468029,;							MODERATE	1612/2601	Y538H	NAA15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296543		CCDS43270.1			1	
AMTN	0	LGGM	GRCh37	4	71390664	71390664	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	11	9	.	.	ENST00000339336.4:c.280C>T	p.Gln94Ter	p.Q94*	ENST00000339336	NM_212557.2	94	Caa/Taa	0	1	1	UPI00000389F3	0	NA	ENST00000339336		ENSG00000187689	33188		20	0		HGNC	p.Q94X		AMTN		SNV							ENST00000339336	protein_coding	getma.org/?cm=var&var=hg19,4,71390664,C,T&fts=all				Q/*		T	NA	410/1037		NA		F1T0L8_HUMAN			YES	AMTN,stop_gained,p.Gln94Ter,ENST00000339336,NM_212557.2;AMTN,stop_gained,p.Gln93Ter,ENST00000504451,NM_001286731.1;							HIGH	280/630	Q94*	AMTN_HUMAN			Transcript			.	ENSP00000341013		CCDS3542.1			1	
AMTN	0	LGGM	GRCh37	4	71390663	71390663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	13	9	.	.	ENST00000339336.4:c.279G>T	p.Gln93His	p.Q93H	ENST00000339336	NM_212557.2	93	caG/caT	0	1	1	UPI00000389F3	0	NA	ENST00000339336		ENSG00000187689	33188		22	0.895		HGNC	p.Q93H		AMTN		SNV							ENST00000339336	protein_coding	getma.org/?cm=var&var=hg19,4,71390663,G,T&fts=all				Q/H		T	low	409/1037		getma.org/?cm=msa&ty=f&p=AMTN_HUMAN&rb=5&re=190&var=Q93H	tolerated(0.07)	F1T0L8_HUMAN			YES	AMTN,missense_variant,p.Gln93His,ENST00000339336,NM_212557.2;AMTN,missense_variant,p.Gln92His,ENST00000504451,NM_001286731.1;							MODERATE	279/630	Q93H	AMTN_HUMAN			Transcript		benign(0.058)	.	ENSP00000341013		CCDS3542.1			1	
RSC1A1	0	LGGM	GRCh37	1	15986977	15986977	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	29	9	.	.	ENST00000345034.1:c.614A>G	p.Asn205Ser	p.N205S	ENST00000345034	NM_006511.1	205	aAt/aGt	0	1	1	UPI00000715AC	0	NA	ENST00000345034		ENSG00000215695	10458		38	0.345		HGNC	p.N205S		RSC1A1		SNV							ENST00000345034	protein_coding	getma.org/?cm=var&var=hg19,1,15986977,A,G&fts=all		hmmpanther:PTHR15397,hmmpanther:PTHR15397:SF2		N/S		G	neutral	614/1854		getma.org/?cm=msa&ty=f&p=RSCA1_HUMAN&rb=201&re=400&var=N205S	tolerated(0.45)				YES	RSC1A1,missense_variant,p.Asn205Ser,ENST00000345034,NM_006511.1;DDI2,3_prime_UTR_variant,,ENST00000480945,NM_032341.4;DDI2,3_prime_UTR_variant,,ENST00000320153,;DDI2,downstream_gene_variant,,ENST00000548451,;							MODERATE	614/1854	N205S	RSCA1_HUMAN			Transcript		benign(0.023)	.	ENSP00000341963		CCDS161.1			1	
ZNF701	0	LGGM	GRCh37	19	53085932	53085932	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	43	9	.	.	ENST00000540331.1:c.818A>G	p.Glu273Gly	p.E273G	ENST00000540331	NM_001172655.1	273	gAa/gGa	0	1		UPI0001C53D22	0	NA	ENST00000301093		ENSG00000167562	25597		52	0.345		HGNC	p.E207G		ZNF701		SNV							ENST00000391785	protein_coding	getma.org/?cm=var&var=hg19,19,53085932,A,G&fts=all		hmmpanther:PTHR24407:SF12,hmmpanther:PTHR24407,Superfamily_domains:SSF57667		E/G		G	neutral	853/2610		getma.org/?cm=msa&ty=f&p=ZN701_HUMAN&rb=49&re=228&var=E207G	tolerated(0.09)	M0R085_HUMAN,F5GZM6_HUMAN				ZNF701,missense_variant,p.Glu273Gly,ENST00000540331,NM_001172655.1;ZNF701,missense_variant,p.Glu207Gly,ENST00000391785,NM_018260.2;ZNF701,missense_variant,p.Glu273Gly,ENST00000301093,;ZNF701,downstream_gene_variant,,ENST00000593941,;ZNF701,downstream_gene_variant,,ENST00000596514,;CTD-3099C6.7,intron_variant,,ENST00000599222,;							MODERATE	818/1596	E207G				Transcript		benign(0.121)	.	ENSP00000301093		CCDS54311.1			1	
CCDC8	0	LGGM	GRCh37	19	46915678	46915678	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	17	9	.	.	ENST00000307522.3:c.390G>T	p.Met130Ile	p.M130I	ENST00000307522	NM_032040.4	130	atG/atT	0	1	1	UPI00000730F2	0	NA	ENST00000307522		ENSG00000169515	25367		26	1.995		HGNC	p.M130I		CCDC8		SNV			1				ENST00000307522	protein_coding	getma.org/?cm=var&var=hg19,19,46915678,C,A&fts=all		hmmpanther:PTHR23095,hmmpanther:PTHR23095:SF2		M/I		A	medium	1164/3213		getma.org/?cm=msa&ty=f&p=CCDC8_HUMAN&rb=1&re=537&var=M130I					YES	CCDC8,missense_variant,p.Met130Ile,ENST00000307522,NM_032040.4;							MODERATE	390/1617	M130I	CCDC8_HUMAN			Transcript		benign(0.102)	.	ENSP00000303158		CCDS12685.1			1	
NEURL4	0	LGGM	GRCh37	17	7226265	7226265	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	14	10	.	.	ENST00000399464.2:c.2593+2T>C		p.X865_splice	ENST00000399464	NM_032442.2			0	1	1	UPI000020081C	0		ENST00000399464		ENSG00000215041	34410		24			HGNC	-		NEURL4		SNV							ENST00000399464	protein_coding							G		-/5200							YES	NEURL4,splice_donor_variant,,ENST00000399464,NM_032442.2;NEURL4,splice_donor_variant,,ENST00000571887,;NEURL4,splice_region_variant,,ENST00000315614,NM_001005408.1;NEURL4,splice_region_variant,,ENST00000570460,;NEURL4,upstream_gene_variant,,ENST00000574120,;NEURL4,splice_donor_variant,,ENST00000573186,;NEURL4,splice_donor_variant,,ENST00000573651,;NEURL4,splice_donor_variant,,ENST00000571508,;RP11-542C16.2,upstream_gene_variant,,ENST00000575474,;RP11-542C16.2,upstream_gene_variant,,ENST00000315601,;NEURL4,upstream_gene_variant,,ENST00000576794,;NEURL4,downstream_gene_variant,,ENST00000576966,;NEURL4,downstream_gene_variant,,ENST00000576485,;NEURL4,upstream_gene_variant,,ENST00000572029,;NEURL4,downstream_gene_variant,,ENST00000571243,;							HIGH	2593/4689		NEUL4_HUMAN			Transcript			.	ENSP00000382390		CCDS42251.1			1	
C11orf30	0	LGGM	GRCh37	11	76255384	76255384	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	29	11	.	.	ENST00000529032.1:c.2791T>G	p.Leu931Val	p.L931V	ENST00000529032		931	Tta/Gta	0	1		UPI0000071307	0	NA	ENST00000334736		ENSG00000158636	18071		40	0.895		HGNC	p.L71V		C11orf30		SNV							ENST00000532719	protein_coding	getma.org/?cm=var&var=hg19,11,76255384,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16500,hmmpanther:PTHR16500:SF2		L/V		G	low	2934/5508		getma.org/?cm=msa&ty=f&p=EMSY_HUMAN&rb=137&re=1320&var=L931V	deleterious_low_confidence(0.02)					C11orf30,missense_variant,p.Leu931Val,ENST00000529032,;C11orf30,missense_variant,p.Leu931Val,ENST00000334736,NM_020193.3;C11orf30,missense_variant,p.Leu931Val,ENST00000343878,;C11orf30,missense_variant,p.Leu932Val,ENST00000525038,;C11orf30,missense_variant,p.Leu946Val,ENST00000524767,;C11orf30,missense_variant,p.Leu932Val,ENST00000525919,;C11orf30,missense_variant,p.Leu833Val,ENST00000524490,;C11orf30,missense_variant,p.Leu840Val,ENST00000533248,;C11orf30,missense_variant,p.Leu71Val,ENST00000532719,;C11orf30,missense_variant,p.Leu203Val,ENST00000524451,;C11orf30,upstream_gene_variant,,ENST00000531793,;C11orf30,non_coding_transcript_exon_variant,,ENST00000531641,;C11orf30,non_coding_transcript_exon_variant,,ENST00000534573,;							MODERATE	2791/3969	L931V	EMSY_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000334130		CCDS8244.1			1	
GPR31	0	LGGM	GRCh37	6	167570724	167570724	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	35	13	.	.	ENST00000366834.1:c.596G>C	p.Gly199Ala	p.G199A	ENST00000366834	NM_005299.2	199	gGc/gCc	0	1	1	UPI000007390A	0	getma.org/pdb.php?prot=GPR31_HUMAN&from=31&to=282&var=G199A	ENST00000366834		ENSG00000120436	4486		48	1.19		HGNC	p.G199A		GPR31		SNV							ENST00000366834	protein_coding	getma.org/?cm=var&var=hg19,6,167570724,C,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24231,hmmpanther:PTHR24231:SF37,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/A		G	low	1094/2059		getma.org/?cm=msa&ty=f&p=GPR31_HUMAN&rb=31&re=282&var=G199A	tolerated(0.98)				YES	GPR31,missense_variant,p.Gly199Ala,ENST00000366834,NM_005299.2;TCP10L2,intron_variant,,ENST00000486697,;TCP10L2,intron_variant,,ENST00000539001,;							MODERATE	596/960	G199A	GPR31_HUMAN			Transcript		benign(0.021)	.	ENSP00000355799		CCDS5299.1			1	
IGHV3-66	0	LGGM	GRCh37	14	107131240	107131240	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	44	13	.	.	ENST00000390632.2:c.141C>T	p.Thr47=	p.T47=	ENST00000390632		47	acC/acT	0	1	1	UPI000011AAC3	0		ENST00000390632		ENSG00000211972	5619		57			HGNC	p.T47T		IGHV3-66		SNV							ENST00000390632	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF91,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		T		A		220/427							YES	IGHV3-66,synonymous_variant,p.=,ENST00000390632,;IGHVII-65-1,upstream_gene_variant,,ENST00000519992,;							LOW	141/348					Transcript			.	ENSP00000375041					1	
RYR2	0	LGGM	GRCh37	1	237753146	237753146	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	89	14	.	.	ENST00000366574.2:c.3652G>C	p.Gly1218Arg	p.G1218R	ENST00000366574	NM_001035.2	1218	Gga/Cga	0	1	1	UPI0000DD0308	0	getma.org/pdb.php?prot=RYR2_HUMAN&from=1098&to=1221&var=G1218R	ENST00000366574		ENSG00000198626	10484		103	3.77		HGNC	p.G1218R		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237753146,G,C&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449		G/R		C	high	3969/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1098&re=1221&var=G1218R		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Gly1218Arg,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Gly1202Arg,ENST00000542537,;RYR2,missense_variant,p.Gly1216Arg,ENST00000360064,;							MODERATE	3652/14904	G1218R	RYR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355533		CCDS55691.1			1	
ZNF618	0	LGGM	GRCh37	9	116810209	116810209	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	20	15	.	.	ENST00000288466.7:c.1004G>T	p.Arg335Leu	p.R335L	ENST00000288466	NM_133374.2	335	cGa/cTa	0	1		UPI000046FD4E	0		ENST00000374126		ENSG00000157657	29416		35			HGNC	p.R335L		ZNF618		SNV							ENST00000288466	protein_coding			hmmpanther:PTHR24383,hmmpanther:PTHR24383:SF12		R/L		T		1382/3018			deleterious_low_confidence(0.01)					ZNF618,missense_variant,p.Arg335Leu,ENST00000288466,NM_133374.2;ZNF618,missense_variant,p.Arg428Leu,ENST00000374126,;ZNF618,non_coding_transcript_exon_variant,,ENST00000470105,;							MODERATE	1283/2865		ZN618_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000363241					1	
ZNF182	0	LGGM	GRCh37	X	47836248	47836248	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110224	H110224N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	11	15	.	.	ENST00000396965.1:c.1238A>T	p.Glu413Val	p.E413V	ENST00000396965	NM_001178099.1	413	gAg/gTg	0	1		UPI0000211F7D	0	getma.org/pdb.php?prot=ZN182_HUMAN&from=389&to=413&var=E413V	ENST00000305127		ENSG00000147118	13001		26	0.385		HGNC	p.E413V		ZNF182		SNV							ENST00000396965	protein_coding	getma.org/?cm=var&var=hg19,X,47836248,T,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF218,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/V		A	neutral	1584/3573		getma.org/?cm=msa&ty=f&p=ZN182_HUMAN&rb=369&re=433&var=E413V	tolerated(0.75)					ZNF182,missense_variant,p.Glu413Val,ENST00000396965,NM_001178099.1;ZNF182,missense_variant,p.Glu413Val,ENST00000305127,NM_006962.1;ZNF182,missense_variant,p.Glu394Val,ENST00000376943,NM_001007088.1;ZNF81,intron_variant,,ENST00000376950,;							MODERATE	1238/1920	E413V	ZN182_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000306351		CCDS35236.1			1	
CELA2B	0	LGGM	GRCh37	1	15808850	15808850	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	14	15	.	.	ENST00000375910.3:c.318G>A	p.Val106=	p.V106=	ENST00000375910	NM_015849.2	106	gtG/gtA	0	1	1	UPI00000724AA	0		ENST00000375910		ENSG00000215704	29995		29			HGNC	p.V106V		CELA2B		SNV							ENST00000375910	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24257,hmmpanther:PTHR24257:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494		V		A		343/923							YES	CELA2B,synonymous_variant,p.=,ENST00000375910,NM_015849.2;CELA2B,synonymous_variant,p.=,ENST00000422901,;CELA2B,non_coding_transcript_exon_variant,,ENST00000494280,;CELA2B,upstream_gene_variant,,ENST00000488764,;							LOW	318/810		CEL2B_HUMAN			Transcript			.	ENSP00000365075		CCDS30605.1			1	
FGFR1	0	LGGM	GRCh37	8	38272306	38272306	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	24	17	.	.	ENST00000425967.3:c.2061G>A	p.Lys687=	p.K687=	ENST00000425967	NM_001174067.1	687	aaG/aaA	0	1		UPI00000534B8	0		ENST00000447712		ENSG00000077782	3688		41			HGNC	p.K565K		FGFR1		SNV			1				ENST00000326324	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000628,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131,SMART_domains:SM00219,Superfamily_domains:SSF56112		K		T		2910/5900				E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,synonymous_variant,p.=,ENST00000341462,;FGFR1,synonymous_variant,p.=,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,synonymous_variant,p.=,ENST00000397091,;FGFR1,synonymous_variant,p.=,ENST00000532791,;FGFR1,synonymous_variant,p.=,ENST00000425967,NM_001174067.1;FGFR1,synonymous_variant,p.=,ENST00000335922,NM_001174064.1;FGFR1,synonymous_variant,p.=,ENST00000356207,NM_023105.2;FGFR1,synonymous_variant,p.=,ENST00000326324,NM_023106.2;FGFR1,synonymous_variant,p.=,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,synonymous_variant,p.=,ENST00000397103,;FGFR1,synonymous_variant,p.=,ENST00000397108,;FGFR1,upstream_gene_variant,,ENST00000526688,;FGFR1,synonymous_variant,p.=,ENST00000531196,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000533619,;FGFR1,downstream_gene_variant,,ENST00000487647,;FGFR1,downstream_gene_variant,,ENST00000466021,;FGFR1,downstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000524528,;							LOW	1968/2469		FGFR1_HUMAN			Transcript			.	ENSP00000400162		CCDS6107.2			1	
RSBN1L	0	LGGM	GRCh37	7	77379181	77379181	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	36	17	.	.	ENST00000334955.8:c.1144G>C	p.Glu382Gln	p.E382Q	ENST00000334955	NM_198467.2	382	Gaa/Caa	0	1	1	UPI000020F469	0	NA	ENST00000334955		ENSG00000187257	24765		53	0.99		HGNC	p.E112Q		RSBN1L		SNV							ENST00000445288	protein_coding	getma.org/?cm=var&var=hg19,7,77379181,G,C&fts=all		hmmpanther:PTHR13354:SF9,hmmpanther:PTHR13354		E/Q		C	low	1171/6422		getma.org/?cm=msa&ty=f&p=RSBNL_HUMAN&rb=201&re=400&var=E382Q	tolerated(0.32)	C9JM20_HUMAN			YES	RSBN1L,missense_variant,p.Glu382Gln,ENST00000334955,NM_198467.2;RSBN1L,missense_variant,p.Glu112Gln,ENST00000445288,;							MODERATE	1144/2541	E382Q	RSBNL_HUMAN			Transcript		benign(0.203)	.	ENSP00000334040		CCDS43607.1			1	
GORASP2	0	LGGM	GRCh37	2	171806124	171806124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110224	H110224N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	40	18	.	.	ENST00000234160.4:c.220A>T	p.Ser74Cys	p.S74C	ENST00000234160	NM_015530.4	74	Agc/Tgc	0	1	1	UPI000007373B	0	getma.org/pdb.php?prot=GORS2_HUMAN&from=69&to=205&var=S74C	ENST00000234160		ENSG00000115806	17500		58	3.235		HGNC	p.S74C		GORASP2		SNV							ENST00000234160	protein_coding	getma.org/?cm=var&var=hg19,2,171806124,A,T&fts=all		hmmpanther:PTHR12893,hmmpanther:PTHR12893:SF1,Gene3D:2.30.42.10,Pfam_domain:PF04495,Superfamily_domains:SSF50156		S/C		T	medium	1035/3173		getma.org/?cm=msa&ty=f&p=GORS2_HUMAN&rb=69&re=205&var=S74C	deleterious(0)	B4DQF1_HUMAN			YES	GORASP2,missense_variant,p.Ser74Cys,ENST00000234160,NM_015530.4,NM_001201428.1;GORASP2,missense_variant,p.Ser86Cys,ENST00000452526,;GORASP2,non_coding_transcript_exon_variant,,ENST00000493692,;GORASP2,non_coding_transcript_exon_variant,,ENST00000471559,;GORASP2,non_coding_transcript_exon_variant,,ENST00000497928,;GORASP2,3_prime_UTR_variant,,ENST00000442798,;GORASP2,3_prime_UTR_variant,,ENST00000454751,;GORASP2,3_prime_UTR_variant,,ENST00000444801,;GORASP2,3_prime_UTR_variant,,ENST00000455067,;GORASP2,upstream_gene_variant,,ENST00000486498,;GORASP2,downstream_gene_variant,,ENST00000497674,;GORASP2,upstream_gene_variant,,ENST00000488928,;							MODERATE	220/1359	S74C	GORS2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000234160		CCDS33325.1			1	
THSD7A	0	LGGM	GRCh37	7	11676056	11676056	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	31	20	.	.	ENST00000423059.4:c.723C>G	p.Cys241Trp	p.C241W	ENST00000423059	NM_015204.2	241	tgC/tgG	0	1	1	UPI00006C0B74	0	getma.org/pdb.php?prot=THS7A_HUMAN&from=198&to=246&var=C241W	ENST00000423059		ENSG00000005108	22207		51	4.53		HGNC	p.C241W		THSD7A		SNV							ENST00000423059	protein_coding	getma.org/?cm=var&var=hg19,7,11676056,G,C&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR11311,hmmpanther:PTHR11311:SF8,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		C/W		C	high	975/10663		getma.org/?cm=msa&ty=f&p=THS7A_HUMAN&rb=198&re=246&var=C241W	deleterious(0)				YES	THSD7A,missense_variant,p.Cys241Trp,ENST00000423059,NM_015204.2;THSD7A,downstream_gene_variant,,ENST00000480061,;							MODERATE	723/4974	C241W	THS7A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000406482		CCDS47543.1			1	
FCRLA	0	LGGM	GRCh37	1	161680590	161680590	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	16	21	.	.	ENST00000367959.2:c.189C>T	p.Cys63=	p.C63=	ENST00000367959	NM_001184866.1	63	tgC/tgT	0	1	1	UPI0001D3957E	0		ENST00000367959		ENSG00000132185	18504		37			HGNC	p.C57C	rs774744249	FCRLA	0.000121	SNV							ENST00000367949	protein_coding			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF9		C		T		431/2362				A6NC03_HUMAN			YES	FCRLA,synonymous_variant,p.=,ENST00000367959,NM_001184866.1;FCRLA,synonymous_variant,p.=,ENST00000540926,;FCRLA,synonymous_variant,p.=,ENST00000236938,NM_032738.3;FCRLA,synonymous_variant,p.=,ENST00000546024,NM_001184867.1;FCRLA,synonymous_variant,p.=,ENST00000367953,;FCRLA,synonymous_variant,p.=,ENST00000367949,NM_001184873.1;FCRLA,synonymous_variant,p.=,ENST00000309691,;FCRLA,synonymous_variant,p.=,ENST00000349527,;FCRLA,synonymous_variant,p.=,ENST00000367950,;FCRLA,intron_variant,,ENST00000540521,NM_001184870.1;FCRLA,intron_variant,,ENST00000367957,NM_001184872.1;FCRLA,intron_variant,,ENST00000350710,NM_001184871.1;FCRLA,intron_variant,,ENST00000294796,;FCRLA,non_coding_transcript_exon_variant,,ENST00000470841,;FCRLA,non_coding_transcript_exon_variant,,ENST00000465403,;							LOW	189/1149					Transcript			.	ENSP00000356936	1.65E-05	CCDS53415.1			1	
CSMD1	0	LGGM	GRCh37	8	3087631	3087631	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	21	21	.	.	ENST00000537824.1:c.4276C>A	p.Gln1426Lys	p.Q1426K	ENST00000537824	NM_033225.5	1426	Caa/Aaa	0	1	1	UPI0001B723C6	0	getma.org/pdb.php?prot=CSMD1_HUMAN&from=1392&to=1448&var=Q1427K	ENST00000537824		ENSG00000183117	14026		42	0.755		HGNC	p.Q1427K		CSMD1		SNV							ENST00000520002	protein_coding	getma.org/?cm=var&var=hg19,8,3087631,G,T&fts=all		PROSITE_profiles:PS50923,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		Q/K		T	neutral	4276/10695		getma.org/?cm=msa&ty=f&p=CSMD1_HUMAN&rb=1392&re=1448&var=Q1427K		F5GZ18_HUMAN			YES	CSMD1,missense_variant,p.Gln907Lys,ENST00000335551,;CSMD1,missense_variant,p.Gln1427Lys,ENST00000520002,;CSMD1,missense_variant,p.Gln1427Lys,ENST00000602557,;CSMD1,missense_variant,p.Gln1427Lys,ENST00000602723,;CSMD1,missense_variant,p.Gln1427Lys,ENST00000400186,;CSMD1,missense_variant,p.Gln1426Lys,ENST00000537824,NM_033225.5;CSMD1,missense_variant,p.Gln1426Lys,ENST00000542608,;CSMD1,missense_variant,p.Gln1426Lys,ENST00000539096,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523387,;CSMD1,non_coding_transcript_exon_variant,,ENST00000523488,;							MODERATE	4276/10695	Q1427K				Transcript		benign(0.003)	.	ENSP00000441462		CCDS55189.1			1	
PAPOLB	0	LGGM	GRCh37	7	4900119	4900119	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110224	H110224N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	138	21	.	.	ENST00000404991.1:c.1320G>C	p.Gly440=	p.G440=	ENST00000404991	NM_020144.4	440	ggG/ggC	0	1	1	UPI0000131304	0		ENST00000404991		ENSG00000218823	15970		159			HGNC	p.G440G		PAPOLB		SNV							ENST00000404991	protein_coding			Gene3D:3.30.70.590,Pfam_domain:PF04926,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF19,Superfamily_domains:SSF55003		G		G		1507/4262				A4D1Z6_HUMAN			YES	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,;							LOW	1320/1911		PAPOB_HUMAN			Transcript			.	ENSP00000384700					1	
UNC80	0	LGGM	GRCh37	2	210690690	210690690	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110224	H110224N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110224N.bam, H110224T.bam	Illumina HiSeq	46	25	.	.	ENST00000439458.1:c.2391G>T	p.Val797=	p.V797=	ENST00000439458	NM_032504.1	797	gtG/gtT	0	1	1	UPI00017E10C9	0		ENST00000439458		ENSG00000144406	26582		71			HGNC	p.V797V		UNC80		SNV							ENST00000272845	protein_coding			hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		V		T		2471/13562							YES	UNC80,synonymous_variant,p.=,ENST00000439458,NM_032504.1;UNC80,synonymous_variant,p.=,ENST00000272845,NM_182587.3;UNC80,upstream_gene_variant,,ENST00000489023,;							LOW	2391/9777		UNC80_HUMAN			Transcript			.	ENSP00000391088		CCDS46504.1			1	
SLC9A3	0	LGGM	GRCh37	5	475101	475101	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	5	2	.	.	ENST00000264938.3:c.2398C>A	p.Arg800Ser	p.R800S	ENST00000264938	NM_004174.2	800	Cgc/Agc	0	1	1	UPI000013D597	0	NA	ENST00000264938		ENSG00000066230	11073		7	2.36		HGNC	p.R791S		SLC9A3		SNV							ENST00000514375	protein_coding	getma.org/?cm=var&var=hg19,5,475101,G,T&fts=all		hmmpanther:PTHR10110:SF90,hmmpanther:PTHR10110		R/S		T	medium	2408/2584		getma.org/?cm=msa&ty=f&p=SL9A3_HUMAN&rb=663&re=834&var=R800S	deleterious_low_confidence(0)				YES	SLC9A3,missense_variant,p.Arg800Ser,ENST00000264938,NM_004174.2;SLC9A3,missense_variant,p.Arg791Ser,ENST00000514375,NM_001284351.1;CTD-2228K2.5,upstream_gene_variant,,ENST00000342584,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510604,;CTD-2228K2.7,intron_variant,,ENST00000607286,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606319,;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,;CTD-2228K2.7,upstream_gene_variant,,ENST00000431004,;CTD-2228K2.5,upstream_gene_variant,,ENST00000510714,;EXOC3,downstream_gene_variant,,ENST00000509294,;CTD-2228K2.5,upstream_gene_variant,,ENST00000502511,;EXOC3,downstream_gene_variant,,ENST00000515601,;EXOC3,downstream_gene_variant,,ENST00000503889,;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,;SLC9A3,downstream_gene_variant,,ENST00000507407,;							MODERATE	2398/2505	R800S	SL9A3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000264938		CCDS3855.1			1	
HSF1	0	LGGM	GRCh37	8	145534880	145534880	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	6	2	.	.	ENST00000528838.1:c.509G>T	p.Arg170Leu	p.R170L	ENST00000528838	NM_005526.2	170	cGg/cTg	0	1	1	UPI0000000DE5	0	NA	ENST00000528838		ENSG00000185122	5224		8	2.445		HGNC	p.R170L		HSF1		SNV							ENST00000528838	protein_coding	getma.org/?cm=var&var=hg19,8,145534880,G,T&fts=all		hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF142		R/L		T	medium	669/2142		getma.org/?cm=msa&ty=f&p=HSF1_HUMAN&rb=123&re=245&var=R170L	deleterious(0)	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN			YES	HSF1,missense_variant,p.Arg170Leu,ENST00000528838,NM_005526.2;HSF1,missense_variant,p.Arg105Leu,ENST00000400780,;HSF1,missense_variant,p.Arg105Leu,ENST00000533240,;GS1-393G12.12,downstream_gene_variant,,ENST00000525023,;HSF1,non_coding_transcript_exon_variant,,ENST00000528199,;HSF1,non_coding_transcript_exon_variant,,ENST00000533130,;HSF1,non_coding_transcript_exon_variant,,ENST00000531447,;HSF1,intron_variant,,ENST00000534314,;HSF1,upstream_gene_variant,,ENST00000528842,;HSF1,downstream_gene_variant,,ENST00000528988,;HSF1,downstream_gene_variant,,ENST00000529630,;HSF1,upstream_gene_variant,,ENST00000530661,;HSF1,non_coding_transcript_exon_variant,,ENST00000532338,;HSF1,non_coding_transcript_exon_variant,,ENST00000527328,;							MODERATE	509/1590	R170L	HSF1_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000431512		CCDS6419.1			1	
LAMA5	0	LGGM	GRCh37	20	60898902	60898902	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	1	2	.	.	ENST00000252999.3:c.5779G>T	p.Gly1927Cys	p.G1927C	ENST00000252999	NM_005560.4	1927	Ggc/Tgc	0	1	1	UPI0000161FDC	0	NA	ENST00000252999		ENSG00000130702	6485		3	3.165		HGNC	p.G1927C		LAMA5		SNV							ENST00000252999	protein_coding	getma.org/?cm=var&var=hg19,20,60898902,C,A&fts=all		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		G/C		A	medium	5846/11426		getma.org/?cm=msa&ty=f&p=LAMA5_HUMAN&rb=1913&re=1966&var=G1927C		O75079_HUMAN			YES	LAMA5,missense_variant,p.Gly1927Cys,ENST00000252999,NM_005560.4;LAMA5,downstream_gene_variant,,ENST00000497363,;LAMA5,non_coding_transcript_exon_variant,,ENST00000464134,;LAMA5,upstream_gene_variant,,ENST00000481120,;							MODERATE	5779/11088	G1927C	LAMA5_HUMAN			Transcript		possibly_damaging(0.816)	.	ENSP00000252999		CCDS33502.1			1	
ELN	0	LGGM	GRCh37	7	73480290	73480290	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	2	.	.	ENST00000252034.7:c.2049A>G	p.Gly683=	p.G683=	ENST00000252034	NM_000501.3	683	ggA/ggG	0	1		UPI0000D61C6B	0		ENST00000358929		ENSG00000049540	3327		16			HGNC	p.G683G		ELN		SNV			1				ENST00000252034	protein_coding			hmmpanther:PTHR24018,hmmpanther:PTHR24018:SF2,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		G		G		2344/3674				Q9UMK5_HUMAN,F8WAH6_HUMAN				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.=,ENST00000458204,NM_001278917.1;ELN,synonymous_variant,p.=,ENST00000414324,NM_001278914.1;ELN,synonymous_variant,p.=,ENST00000380576,;ELN,synonymous_variant,p.=,ENST00000320492,NM_001278913.1;ELN,synonymous_variant,p.=,ENST00000320399,;ELN,synonymous_variant,p.=,ENST00000380562,;ELN,intron_variant,,ENST00000357036,NM_001081754.2;ELN,intron_variant,,ENST00000429192,NM_001081753.2;ELN,intron_variant,,ENST00000380584,NM_001278916.1;ELN,intron_variant,,ENST00000380575,NM_001278918.1,NM_001081752.2;ELN,intron_variant,,ENST00000380553,;ELN,intron_variant,,ENST00000445912,NM_001278912.1;CTB-51J22.1,upstream_gene_variant,,ENST00000435932,;							LOW	2253/2379					Transcript			.	ENSP00000351807					1	
PKMYT1	0	LGGM	GRCh37	16	3025332	3025332	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	3	2	.	.	ENST00000262300.8:c.860C>A	p.Ala287Glu	p.A287E	ENST00000262300	NM_001258450.1	287	gCg/gAg	0	1	1	UPI000004CF52	0	getma.org/pdb.php?prot=PMYT1_HUMAN&from=110&to=359&var=A287E	ENST00000262300		ENSG00000127564	29650		5	3.04		HGNC	p.A278E		PKMYT1		SNV							ENST00000574385	protein_coding	getma.org/?cm=var&var=hg19,16,3025332,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF000567,PROSITE_profiles:PS50011,hmmpanther:PTHR11042,hmmpanther:PTHR11042:SF73,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/E		T	medium	1369/2171		getma.org/?cm=msa&ty=f&p=PMYT1_HUMAN&rb=110&re=359&var=A287E	deleterious(0)	Q0IJ49_HUMAN,I3L4Y0_HUMAN,I3L4K3_HUMAN,I3L1H7_HUMAN,I3L136_HUMAN			YES	PKMYT1,missense_variant,p.Ala287Glu,ENST00000431515,;PKMYT1,missense_variant,p.Ala287Glu,ENST00000262300,NM_001258450.1,NM_004203.4,NM_182687.2;PKMYT1,missense_variant,p.Ala287Glu,ENST00000440027,;PKMYT1,missense_variant,p.Ala278Glu,ENST00000574385,NM_001258451.1;PKMYT1,missense_variant,p.Ala278Glu,ENST00000573944,;PKMYT1,missense_variant,p.Ala218Glu,ENST00000574730,;PAQR4,downstream_gene_variant,,ENST00000318782,NM_152341.3,NM_001284513.1;PAQR4,downstream_gene_variant,,ENST00000293978,NM_001284511.1;PAQR4,downstream_gene_variant,,ENST00000572687,NM_001284512.1;PKMYT1,downstream_gene_variant,,ENST00000576268,;PKMYT1,downstream_gene_variant,,ENST00000574415,;PKMYT1,downstream_gene_variant,,ENST00000575632,;PKMYT1,downstream_gene_variant,,ENST00000572059,;PAQR4,downstream_gene_variant,,ENST00000574988,;PAQR4,downstream_gene_variant,,ENST00000576565,;PKMYT1,upstream_gene_variant,,ENST00000575040,;PKMYT1,downstream_gene_variant,,ENST00000572619,;PKMYT1,upstream_gene_variant,,ENST00000574333,;PKMYT1,missense_variant,p.Ala278Glu,ENST00000382240,;PKMYT1,upstream_gene_variant,,ENST00000575981,;PKMYT1,upstream_gene_variant,,ENST00000574680,;PKMYT1,downstream_gene_variant,,ENST00000570649,;PKMYT1,downstream_gene_variant,,ENST00000572658,;							MODERATE	860/1500	A287E	PMYT1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000262300		CCDS10486.1			1	
BLK	0	LGGM	GRCh37	8	11421500	11421500	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	2	2	.	.	ENST00000259089.4:c.1401C>A	p.Gly467=	p.G467=	ENST00000259089	NM_001715.2	467	ggC/ggA	0	1	1	UPI000006EA28	0		ENST00000259089		ENSG00000136573	1057		4			HGNC	p.G396G		BLK		SNV			1				ENST00000529894	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF39,SMART_domains:SM00219,Superfamily_domains:SSF56112		G		A		1993/2606				E9PJX5_HUMAN			YES	BLK,synonymous_variant,p.=,ENST00000259089,NM_001715.2;BLK,synonymous_variant,p.=,ENST00000529894,;RP11-148O21.2,upstream_gene_variant,,ENST00000533322,;BLK,non_coding_transcript_exon_variant,,ENST00000526097,;							LOW	1401/1518		BLK_HUMAN			Transcript			.	ENSP00000259089		CCDS5982.1			1	
ITGB1BP2	0	LGGM	GRCh37	X	70524909	70524909	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	11	2	.	.	ENST00000373829.3:c.911A>G	p.Glu304Gly	p.E304G	ENST00000373829	NM_012278.1	304	gAg/gGg	0	1	1	UPI000000103C	0	getma.org/pdb.php?prot=ITBP2_HUMAN&from=215&to=304&var=E304G	ENST00000373829		ENSG00000147166	6154		13	2.575		HGNC	p.E304G		ITGB1BP2		SNV							ENST00000373829	protein_coding	getma.org/?cm=var&var=hg19,X,70524909,A,G&fts=all		Gene3D:2.60.40.790,PROSITE_profiles:PS51203,hmmpanther:PTHR12621,hmmpanther:PTHR12621:SF8,Superfamily_domains:SSF49764		E/G		G	medium	984/1296		getma.org/?cm=msa&ty=f&p=ITBP2_HUMAN&rb=215&re=304&var=E304G	deleterious(0)				YES	ITGB1BP2,missense_variant,p.Glu286Gly,ENST00000538820,;ITGB1BP2,missense_variant,p.Glu304Gly,ENST00000373829,NM_012278.1;NONO,downstream_gene_variant,,ENST00000535149,NM_001145410.1;NONO,downstream_gene_variant,,ENST00000276079,NM_007363.4;NONO,downstream_gene_variant,,ENST00000373841,NM_001145409.1;NONO,downstream_gene_variant,,ENST00000373856,NM_001145408.1;NONO,downstream_gene_variant,,ENST00000490044,;NONO,downstream_gene_variant,,ENST00000473525,;ITGB1BP2,downstream_gene_variant,,ENST00000465388,;NONO,downstream_gene_variant,,ENST00000474431,;ITGB1BP2,downstream_gene_variant,,ENST00000475413,;ITGB1BP2,downstream_gene_variant,,ENST00000483897,;NONO,downstream_gene_variant,,ENST00000472185,;AL590762.1,downstream_gene_variant,,ENST00000536900,;							MODERATE	911/1044	E304G	ITBP2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000362935		CCDS14411.1			1	
SYN3	0	LGGM	GRCh37	22	32937590	32937590	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	15	2	.	.	ENST00000358763.2:c.884T>G	p.Ile295Ser	p.I295S	ENST00000358763	NM_001135774.1	295	aTc/aGc	0	1	1	UPI00001365D3	0	getma.org/pdb.php?prot=SYN3_HUMAN&from=193&to=395&var=I295S	ENST00000358763		ENSG00000185666	11496		17	2.83		HGNC	p.I295S		SYN3		SNV							ENST00000332840	protein_coding	getma.org/?cm=var&var=hg19,22,32937590,A,C&fts=all		hmmpanther:PTHR10841,Pfam_domain:PF02750,Gene3D:3.30.470.20,Superfamily_domains:SSF56059,Prints_domain:PR01368		I/S		C	medium	1127/3126		getma.org/?cm=msa&ty=f&p=SYN3_HUMAN&rb=193&re=395&var=I295S	deleterious(0)	Q4TT46_HUMAN,Q17R54_HUMAN,A6ZJ82_HUMAN			YES	SYN3,missense_variant,p.Ile295Ser,ENST00000358763,NM_001135774.1;SYN3,missense_variant,p.Ile295Ser,ENST00000332840,NM_003490.3,NM_133633.2;							MODERATE	884/1743	I295S	SYN3_HUMAN			Transcript		unknown(0)	.	ENSP00000351614		CCDS13908.1			1	
SDC3	0	LGGM	GRCh37	1	31346189	31346189	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	8	2	.	.	ENST00000339394.6:c.1198G>C	p.Ala400Pro	p.A400P	ENST00000339394	NM_014654.3	400	Gct/Cct	0	1	1	UPI000045619B	0	NA	ENST00000339394		ENSG00000162512	10660		10	0.895		HGNC	p.A400P		SDC3		SNV							ENST00000339394	protein_coding	getma.org/?cm=var&var=hg19,1,31346189,C,G&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10915,hmmpanther:PTHR10915:SF7,Pfam_domain:PF01034		A/P		G	low	1373/1580		getma.org/?cm=msa&ty=f&p=SDC3_HUMAN&rb=28&re=440&var=A400P	deleterious(0)				YES	SDC3,missense_variant,p.Ala342Pro,ENST00000336798,;SDC3,missense_variant,p.Ala400Pro,ENST00000339394,NM_014654.3;SDC3,downstream_gene_variant,,ENST00000471567,;							MODERATE	1198/1329	A400P	SDC3_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000344468		CCDS30661.1			1	
WDR38	0	LGGM	GRCh37	9	127618771	127618771	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	7	2	.	.	ENST00000373574.1:c.510C>A	p.Thr170=	p.T170=	ENST00000373574	NM_001045476.2	170	acC/acA	0	1	1	UPI00004A0D82	0		ENST00000373574		ENSG00000136918	23745		9			HGNC	p.T170T		WDR38		SNV							ENST00000373574	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,SMART_domains:SM00320,Superfamily_domains:SSF50978		T		A		566/1252							YES	WDR38,synonymous_variant,p.=,ENST00000373574,NM_001045476.2,NM_001276375.1,NM_001276374.1;RPL35,downstream_gene_variant,,ENST00000373570,;RPL35,downstream_gene_variant,,ENST00000348462,NM_007209.3;RPL35,downstream_gene_variant,,ENST00000487431,;RPL35,downstream_gene_variant,,ENST00000493018,;RPL35,downstream_gene_variant,,ENST00000495728,;							LOW	510/945		WDR38_HUMAN			Transcript			.	ENSP00000362677		CCDS43876.1			1	
ATG16L2	0	LGGM	GRCh37	11	72537287	72537287	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	5	2	.	.	ENST00000321297.5:c.1172C>A	p.Ser391Ter	p.S391*	ENST00000321297	NM_033388.1	391	tCg/tAg	0	1	1	UPI0000140B06	0	NA	ENST00000321297		ENSG00000168010	25464		7	0		HGNC	p.S222X		ATG16L2		SNV							ENST00000541367	protein_coding	getma.org/?cm=var&var=hg19,11,72537287,C,A&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19878:SF2,hmmpanther:PTHR19878,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		S/*		A	NA	1310/2243		NA		F5H7B6_HUMAN			YES	ATG16L2,stop_gained,p.Ser391Ter,ENST00000321297,NM_033388.1;ATG16L2,stop_gained,p.Ser222Ter,ENST00000541367,;ATG16L2,stop_gained,p.Ser222Ter,ENST00000538973,;ATG16L2,stop_gained,p.Ser169Ter,ENST00000540222,;ATG16L2,stop_gained,p.Ser229Ter,ENST00000535830,;ATG16L2,intron_variant,,ENST00000534905,;ATG16L2,intron_variant,,ENST00000541554,;ATG16L2,splice_region_variant,,ENST00000536995,;ATG16L2,splice_region_variant,,ENST00000439504,;ATG16L2,splice_region_variant,,ENST00000544490,;ATG16L2,splice_region_variant,,ENST00000435507,;ATG16L2,splice_region_variant,,ENST00000542481,;ATG16L2,3_prime_UTR_variant,,ENST00000537837,;ATG16L2,downstream_gene_variant,,ENST00000542908,;ATG16L2,downstream_gene_variant,,ENST00000537212,;ATG16L2,downstream_gene_variant,,ENST00000545248,;ATG16L2,downstream_gene_variant,,ENST00000541999,;ATG16L2,downstream_gene_variant,,ENST00000537143,;							HIGH	1172/1860	S391*	A16L2_HUMAN			Transcript			.	ENSP00000326340		CCDS31634.1			1	
CLMN	0	LGGM	GRCh37	14	95681977	95681977	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	42	3	.	.	ENST00000298912.4:c.417+1G>T		p.X139_splice	ENST00000298912	NM_024734.3			0	1	1	UPI000006DB99	0		ENST00000298912		ENSG00000165959	19972		45			HGNC	-		CLMN		SNV							ENST00000298912	protein_coding							A		-/12747				G3V5U3_HUMAN,G3V4C0_HUMAN,A0PJD0_HUMAN			YES	CLMN,splice_donor_variant,,ENST00000298912,NM_024734.3;CLMN,splice_donor_variant,,ENST00000555336,;CLMN,splice_donor_variant,,ENST00000555615,;CLMN,upstream_gene_variant,,ENST00000556454,;							HIGH	417/3009		CLMN_HUMAN			Transcript			.	ENSP00000298912		CCDS9933.1			1	
COL22A1	0	LGGM	GRCh37	8	139706805	139706805	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	30	3	.	.	ENST00000303045.6:c.2647-1G>T		p.X883_splice	ENST00000303045	NM_152888.1			0	1	1	UPI00001C1EA1	0		ENST00000303045		ENSG00000169436	22989		33			HGNC	-	COSM1096559	COL22A1		SNV						1	ENST00000303045	protein_coding							A		-/6346							YES	COL22A1,splice_acceptor_variant,,ENST00000303045,NM_152888.1;COL22A1,splice_acceptor_variant,,ENST00000435777,;COL22A1,splice_acceptor_variant,,ENST00000341807,;					1		HIGH	2647/4881		COMA1_HUMAN			Transcript			.	ENSP00000303153		CCDS6376.1			1	
WDR52	0	LGGM	GRCh37	3	113152411	113152411	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	41	3	.	.	ENST00000393845.2:c.100+1G>T		p.X34_splice	ENST00000393845	NM_001164496.1			0	1		UPI000006D67B	0		ENST00000295868		ENSG00000206530	25631		44			HGNC	-		WDR52		SNV							ENST00000393845	protein_coding							A		-/3377				C9K0A4_HUMAN				WDR52,splice_donor_variant,,ENST00000393845,NM_001164496.1;WDR52,splice_donor_variant,,ENST00000295868,NM_018338.3;WDR52,splice_donor_variant,,ENST00000473143,;WDR52-AS1,intron_variant,,ENST00000498480,;WDR52,splice_donor_variant,,ENST00000488854,;WDR52,splice_donor_variant,,ENST00000479422,;WDR52,splice_donor_variant,,ENST00000489938,;							HIGH	100/2949		WDR52_HUMAN			Transcript			.	ENSP00000295868		CCDS2972.1			1	
PXDN	0	LGGM	GRCh37	2	1670022	1670022	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	40	3	.	.	ENST00000252804.4:c.1255G>T	p.Asp419Tyr	p.D419Y	ENST00000252804	NM_012293.1	419	Gac/Tac	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=342&to=429&var=D419Y	ENST00000252804		ENSG00000130508	14966		43	1.22		HGNC	p.D419Y		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1670022,C,A&fts=all		PROSITE_profiles:PS50835,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		D/Y		A	low	1306/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=342&re=429&var=D419Y	deleterious(0.01)				YES	PXDN,missense_variant,p.Asp419Tyr,ENST00000252804,NM_012293.1;PXDN,missense_variant,p.Asp415Tyr,ENST00000433670,;PXDN,non_coding_transcript_exon_variant,,ENST00000467191,;PXDN,downstream_gene_variant,,ENST00000483018,;PXDN,downstream_gene_variant,,ENST00000477810,;PXDN,non_coding_transcript_exon_variant,,ENST00000478155,;							MODERATE	1255/4440	D419Y	PXDN_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000252804		CCDS46221.1			1	
PAK2	0	LGGM	GRCh37	3	196539136	196539136	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	22	3	.	.	ENST00000327134.3:c.820G>T	p.Glu274Ter	p.E274*	ENST00000327134	NM_002577.4	274	Gag/Tag	0	1	1	UPI0000141B02	0	NA	ENST00000327134		ENSG00000180370	8591		25	0		HGNC	p.E274X		PAK2		SNV							ENST00000327134	protein_coding	getma.org/?cm=var&var=hg19,3,196539136,G,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_patterns:PS00107,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF250,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/*		T	NA	1142/6139		NA		H9XFB4_HUMAN			YES	PAK2,stop_gained,p.Glu274Ter,ENST00000327134,NM_002577.4;PAK2,stop_gained,p.Glu17Ter,ENST00000426668,;PAK2,downstream_gene_variant,,ENST00000481344,;							HIGH	820/1575	E274*	PAK2_HUMAN			Transcript			.	ENSP00000314067		CCDS3321.1			1	
ARHGEF10L	0	LGGM	GRCh37	1	17950940	17950940	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	3	.	.	ENST00000361221.3:c.1259C>A	p.Ala420Asp	p.A420D	ENST00000361221	NM_018125.3	420	gCc/gAc	0	1	1	UPI00003664EA	0	getma.org/pdb.php?prot=ARGAL_HUMAN&from=320&to=502&var=A420D	ENST00000361221		ENSG00000074964	25540		22	3.6		HGNC	p.A420D		ARHGEF10L		SNV							ENST00000361221	protein_coding	getma.org/?cm=var&var=hg19,1,17950940,C,A&fts=all		Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF16,SMART_domains:SM00325,Superfamily_domains:SSF48065		A/D		A	high	1418/4488		getma.org/?cm=msa&ty=f&p=ARGAL_HUMAN&rb=320&re=502&var=A420D	deleterious(0)				YES	ARHGEF10L,missense_variant,p.Ala420Asp,ENST00000361221,NM_018125.3;ARHGEF10L,missense_variant,p.Ala381Asp,ENST00000452522,;ARHGEF10L,missense_variant,p.Ala381Asp,ENST00000375415,NM_001011722.2;ARHGEF10L,missense_variant,p.Ala198Asp,ENST00000375408,;ARHGEF10L,missense_variant,p.Ala420Asp,ENST00000434513,;ARHGEF10L,missense_variant,p.Ala178Asp,ENST00000375420,;ARHGEF10L,intron_variant,,ENST00000167825,;ARHGEF10L,non_coding_transcript_exon_variant,,ENST00000469726,;ARHGEF10L,upstream_gene_variant,,ENST00000475356,;							MODERATE	1259/3840	A420D	ARGAL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355060		CCDS182.1			1	
C11orf88	0	LGGM	GRCh37	11	111386269	111386269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	39	3	.	.	ENST00000332814.6:c.260C>A	p.Ala87Glu	p.A87E	ENST00000332814	NM_207430.2	87	gCg/gAg	0	1		UPI00001FA33D	0	NA	ENST00000375618		ENSG00000183644	25061		42	-0.69		HGNC	p.A87E	rs529187598	C11orf88		SNV							ENST00000375618	protein_coding	getma.org/?cm=var&var=hg19,11,111386269,C,A&fts=all		hmmpanther:PTHR16213:SF32,hmmpanther:PTHR16213		A/E		A	neutral	260/712	7.52E-05	getma.org/?cm=msa&ty=f&p=CK088_HUMAN&rb=1&re=113&var=A87E	tolerated(1)					C11orf88,missense_variant,p.Ala87Glu,ENST00000529167,;C11orf88,missense_variant,p.Ala87Glu,ENST00000332814,NM_207430.2;C11orf88,missense_variant,p.Ala87Glu,ENST00000375618,NM_001100388.1;BTG4,upstream_gene_variant,,ENST00000525791,;BTG4,upstream_gene_variant,,ENST00000356018,NM_017589.3;BTG4,upstream_gene_variant,,ENST00000456861,;MIR34B,downstream_gene_variant,,ENST00000385076,;MIR34C,downstream_gene_variant,,ENST00000384831,;RP11-794P6.6,intron_variant,,ENST00000530283,;C11orf88,upstream_gene_variant,,ENST00000529661,;							MODERATE	260/510	A87E	CK088_HUMAN			Transcript		benign(0.001)	.	ENSP00000364768	4.14E-05	CCDS41713.1			1	
SART3	0	LGGM	GRCh37	12	108941719	108941719	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	3	.	.	ENST00000228284.3:c.488G>T	p.Gly163Val	p.G163V	ENST00000228284	NM_014706.3	163	gGc/gTc	0	1	1	UPI000006D72B	0	NA	ENST00000228284		ENSG00000075856	16860		19	-0.095		HGNC	p.G163V		SART3		SNV			1				ENST00000546815	protein_coding	getma.org/?cm=var&var=hg19,12,108941719,C,A&fts=all		hmmpanther:PTHR23269,hmmpanther:PTHR23269:SF0,Superfamily_domains:SSF48452		G/V		A	neutral	723/4004		getma.org/?cm=msa&ty=f&p=SART3_HUMAN&rb=1&re=200&var=G163V	tolerated(0.24)	H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN			YES	SART3,missense_variant,p.Gly163Val,ENST00000228284,NM_014706.3;SART3,missense_variant,p.Gly163Val,ENST00000431469,;SART3,missense_variant,p.Gly163Val,ENST00000546815,;SART3,missense_variant,p.Gly31Val,ENST00000550322,;SART3,missense_variant,p.Gly31Val,ENST00000550619,;SART3,non_coding_transcript_exon_variant,,ENST00000552221,;SART3,missense_variant,p.Gly163Val,ENST00000546728,;SART3,missense_variant,p.Gly163Val,ENST00000547528,;SART3,upstream_gene_variant,,ENST00000551416,;							MODERATE	488/2892	G163V	SART3_HUMAN			Transcript		benign(0.002)	.	ENSP00000228284		CCDS9117.1			1	
P4HA1	0	LGGM	GRCh37	10	74813292	74813292	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	37	3	.	.	ENST00000412021.2:c.520G>T	p.Ala174Ser	p.A174S	ENST00000412021	NM_001142595.1	174	Gcc/Tcc	0	1		UPI0000001C27	0	getma.org/pdb.php?prot=P4HA1_HUMAN&from=157&to=356&var=A174S	ENST00000307116		ENSG00000122884	8546		40	1.835		HGNC	p.A174S		P4HA1		SNV							ENST00000373008	protein_coding	getma.org/?cm=var&var=hg19,10,74813292,C,A&fts=all		hmmpanther:PTHR10869:SF40,hmmpanther:PTHR10869,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		A/S		A	low	637/2727		getma.org/?cm=msa&ty=f&p=P4HA1_HUMAN&rb=157&re=356&var=A174S	tolerated(0.43)					P4HA1,missense_variant,p.Ala174Ser,ENST00000412021,NM_001142595.1;P4HA1,missense_variant,p.Ala174Ser,ENST00000263556,NM_000917.3;P4HA1,missense_variant,p.Ala174Ser,ENST00000394890,NM_001017962.2;P4HA1,missense_variant,p.Ala174Ser,ENST00000440381,NM_001142596.1;P4HA1,missense_variant,p.Ala174Ser,ENST00000307116,;P4HA1,missense_variant,p.Ala174Ser,ENST00000373008,;							MODERATE	520/1605	A174S	P4HA1_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000307318					1	
GARS	0	LGGM	GRCh37	7	30671884	30671884	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	37	3	.	.	ENST00000389266.3:c.1925G>T	p.Gly642Val	p.G642V	ENST00000389266	NM_002047.2	642	gGa/gTa	0	1	1	UPI00005A885C	0	getma.org/pdb.php?prot=SYG_HUMAN&from=615&to=709&var=G642V	ENST00000389266		ENSG00000106105	4162		40	2.695		HGNC	p.G642V	rs755352374	GARS	6.07E-05	SNV			1				ENST00000389266	protein_coding	getma.org/?cm=var&var=hg19,7,30671884,G,T&fts=all		Gene3D:3.40.50.800,Pfam_domain:PF03129,hmmpanther:PTHR10745,hmmpanther:PTHR10745:SF0,Superfamily_domains:SSF52954,TIGRFAM_domain:TIGR00389		G/V		T	medium	2166/2634		getma.org/?cm=msa&ty=f&p=SYG_HUMAN&rb=615&re=709&var=G642V	deleterious(0.02)	Q75MN1_HUMAN			YES	GARS,missense_variant,p.Gly642Val,ENST00000389266,NM_002047.2;GARS,3_prime_UTR_variant,,ENST00000444666,;GARS,non_coding_transcript_exon_variant,,ENST00000496643,;GARS,non_coding_transcript_exon_variant,,ENST00000485784,;GARS,non_coding_transcript_exon_variant,,ENST00000465748,;GARS,downstream_gene_variant,,ENST00000470392,;							MODERATE	1925/2220	G642V	SYG_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000373918	8.27E-06	CCDS43564.1			1	
MKRN1	0	LGGM	GRCh37	7	140171714	140171714	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	46	3	.	.	ENST00000255977.2:c.283C>A	p.Arg95=	p.R95=	ENST00000255977	NM_013446.3	95	Cga/Aga	0	1	1	UPI0000001C5F	0		ENST00000255977		ENSG00000133606	7112		49			HGNC	p.R31R		MKRN1		SNV							ENST00000494939	protein_coding			Superfamily_domains:SSF90229,SMART_domains:SM00356,Gene3D:1m9oA00,Pfam_domain:PF00642,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF37,PROSITE_profiles:PS50103		R		T		508/3151				F5H0I9_HUMAN,C9JYX8_HUMAN,C9J031_HUMAN,C9IY57_HUMAN			YES	MKRN1,synonymous_variant,p.=,ENST00000255977,NM_013446.3;MKRN1,synonymous_variant,p.=,ENST00000474576,;MKRN1,synonymous_variant,p.=,ENST00000443720,NM_001145125.1;MKRN1,synonymous_variant,p.=,ENST00000467513,;MKRN1,synonymous_variant,p.=,ENST00000471104,;MKRN1,synonymous_variant,p.=,ENST00000480552,;MKRN1,synonymous_variant,p.=,ENST00000494939,;MKRN1,synonymous_variant,p.=,ENST00000473444,;MKRN1,5_prime_UTR_variant,,ENST00000437223,;MKRN1,non_coding_transcript_exon_variant,,ENST00000481705,;MKRN1,synonymous_variant,p.=,ENST00000495305,;MKRN1,3_prime_UTR_variant,,ENST00000496169,;MKRN1,3_prime_UTR_variant,,ENST00000498535,;MKRN1,3_prime_UTR_variant,,ENST00000475180,;MKRN1,non_coding_transcript_exon_variant,,ENST00000475010,;							LOW	283/1449		MKRN1_HUMAN			Transcript			.	ENSP00000255977		CCDS5860.1			1	
LTBP4	0	LGGM	GRCh37	19	41111004	41111004	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	34	3	.	.	ENST00000308370.7:c.515C>A	p.Pro172His	p.P172H	ENST00000308370	NM_001042544.1	172	cCc/cAc	0	1	1	UPI000179A7A0	0	NA	ENST00000308370		ENSG00000090006	6717		37	2.935		HGNC	p.P135H		LTBP4		SNV			1				ENST00000204005	protein_coding	getma.org/?cm=var&var=hg19,19,41111004,C,A&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026		P/H		A	medium	515/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=149&re=181&var=P172H	deleterious(0)				YES	LTBP4,missense_variant,p.Pro172His,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Pro135His,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Pro105His,ENST00000396819,NM_001042545.1;LTBP4,5_prime_UTR_variant,,ENST00000545697,;RN7SL758P,downstream_gene_variant,,ENST00000580450,;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,,ENST00000599016,;LTBP4,non_coding_transcript_exon_variant,,ENST00000600026,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,non_coding_transcript_exon_variant,,ENST00000593738,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000595529,;							MODERATE	515/4872	P172H	LTBP4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000311905					1	
PSMB3	0	LGGM	GRCh37	17	36916810	36916810	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	33	3	.	.	ENST00000225426.4:c.423C>A	p.Thr141=	p.T141=	ENST00000225426	NM_002795.2	141	acC/acA	0	1	1	UPI00001325B3	0		ENST00000225426		ENSG00000108294	9540		36			HGNC	p.T138T		PSMB3		SNV							ENST00000579088	protein_coding			PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF49,Gene3D:3.60.20.10,Pfam_domain:PF00227,Superfamily_domains:SSF56235		T		A		514/773				J3QKR3_HUMAN			YES	PSMB3,synonymous_variant,p.=,ENST00000225426,NM_002795.2;PSMB3,synonymous_variant,p.=,ENST00000579088,;PSMB3,3_prime_UTR_variant,,ENST00000584662,;PSMB3,non_coding_transcript_exon_variant,,ENST00000581388,;PSMB3,intron_variant,,ENST00000579729,;PSMB3,upstream_gene_variant,,ENST00000583873,;							LOW	423/618		PSB3_HUMAN			Transcript			.	ENSP00000225426		CCDS11328.1			1	
ZBTB46	0	LGGM	GRCh37	20	62421202	62421202	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	41	3	.	.	ENST00000245663.4:c.909G>T	p.Ser303=	p.S303=	ENST00000245663	NM_025224.3	303	tcG/tcT	0	1	1	UPI0000206406	0		ENST00000245663		ENSG00000130584	16094		44			HGNC	p.S303S		ZBTB46		SNV							ENST00000395104	protein_coding			hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF118		S		A		1060/5185							YES	ZBTB46,synonymous_variant,p.=,ENST00000245663,NM_025224.3;ZBTB46,synonymous_variant,p.=,ENST00000395104,;ZBTB46,synonymous_variant,p.=,ENST00000302995,;ZBTB46,non_coding_transcript_exon_variant,,ENST00000480766,;							LOW	909/1770		ZBT46_HUMAN			Transcript			.	ENSP00000245663		CCDS13538.1			1	
SLC5A6	0	LGGM	GRCh37	2	27428937	27428937	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	29	3	.	.	ENST00000310574.3:c.536C>A	p.Ser179Tyr	p.S179Y	ENST00000310574	NM_021095.2	179	tCc/tAc	0	1	1	UPI000006DE33	0	getma.org/pdb.php?prot=SC5A6_HUMAN&from=59&to=463&var=S179Y	ENST00000310574		ENSG00000138074	11041		32	3.065		HGNC	p.S179Y		SLC5A6		SNV							ENST00000310574	protein_coding	getma.org/?cm=var&var=hg19,2,27428937,G,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF124,PROSITE_patterns:PS00456,Pfam_domain:PF00474,TIGRFAM_domain:TIGR00813		S/Y		T	medium	1010/3231		getma.org/?cm=msa&ty=f&p=SC5A6_HUMAN&rb=59&re=463&var=S179Y	deleterious(0)	Q9HD19_HUMAN,E7EXC0_HUMAN,E7EW78_HUMAN,E7EW41_HUMAN,E7ERE1_HUMAN,E7EP02_HUMAN,E7ENN0_HUMAN,E7ENG0_HUMAN,E7EMX0_HUMAN			YES	SLC5A6,missense_variant,p.Ser179Tyr,ENST00000310574,NM_021095.2;SLC5A6,missense_variant,p.Ser179Tyr,ENST00000408041,;SLC5A6,missense_variant,p.Ser179Tyr,ENST00000412471,;SLC5A6,downstream_gene_variant,,ENST00000414408,;SLC5A6,downstream_gene_variant,,ENST00000401463,;SLC5A6,downstream_gene_variant,,ENST00000432106,;SLC5A6,downstream_gene_variant,,ENST00000426119,;SLC5A6,downstream_gene_variant,,ENST00000430186,;SLC5A6,downstream_gene_variant,,ENST00000428518,;SLC5A6,downstream_gene_variant,,ENST00000442731,;SLC5A6,upstream_gene_variant,,ENST00000461319,;SLC5A6,3_prime_UTR_variant,,ENST00000445802,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000488743,;SLC5A6,non_coding_transcript_exon_variant,,ENST00000464538,;SLC5A6,upstream_gene_variant,,ENST00000461757,;SLC5A6,upstream_gene_variant,,ENST00000476319,;SLC5A6,upstream_gene_variant,,ENST00000492069,;SLC5A6,upstream_gene_variant,,ENST00000481751,;							MODERATE	536/1908	S179Y	SC5A6_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000310208		CCDS1740.1			1	
RABEPK	0	LGGM	GRCh37	9	127982890	127982890	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	29	3	.	.	ENST00000373538.3:c.437C>A	p.Ala146Glu	p.A146E	ENST00000373538	NM_005833.3	146	gCa/gAa	0	1	1	UPI000013D058	0	NA	ENST00000373538		ENSG00000136933	16896		32	2.97		HGNC	p.A229E		RABEPK		SNV							ENST00000416065	protein_coding	getma.org/?cm=var&var=hg19,9,127982890,C,A&fts=all		hmmpanther:PTHR23244:SF257,hmmpanther:PTHR23244,Gene3D:1zgkA00,Pfam_domain:PF13415,Superfamily_domains:0052715		A/E		A	medium	747/1504		getma.org/?cm=msa&ty=f&p=RABEK_HUMAN&rb=99&re=147&var=A146E	deleterious(0)				YES	RABEPK,missense_variant,p.Ala146Glu,ENST00000373538,NM_005833.3;RABEPK,missense_variant,p.Ala146Glu,ENST00000394125,NM_001174152.1;RABEPK,missense_variant,p.Ala95Glu,ENST00000259460,NM_001174153.1;RABEPK,missense_variant,p.Ala229Glu,ENST00000416065,;RABEPK,3_prime_UTR_variant,,ENST00000373544,;RABEPK,3_prime_UTR_variant,,ENST00000394124,;							MODERATE	437/1119	A146E	RABEK_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000362639		CCDS6862.1			1	
AFF3	0	LGGM	GRCh37	2	100722333	100722333	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	3	.	.	ENST00000434301.1:n.953C>G		*318*	ENST00000434301				0	1		UPI0000207EDD	0		ENST00000409236		ENSG00000144218	6473		22		1155	HGNC	p.G51A		AFF3		SNV							ENST00000415384	protein_coding							G		-/9407				C9JZ66_HUMAN,C9JMS1_HUMAN,C9JC67_HUMAN,C9J847_HUMAN,C9J622_HUMAN				AFF3,missense_variant,p.Gly51Ala,ENST00000415384,;AFF3,5_prime_UTR_variant,,ENST00000427118,;AFF3,intron_variant,,ENST00000317233,NM_002285.2;AFF3,intron_variant,,ENST00000409579,;AFF3,intron_variant,,ENST00000423966,;AFF3,intron_variant,,ENST00000416492,;AFF3,upstream_gene_variant,,ENST00000409236,;AFF3,upstream_gene_variant,,ENST00000356421,NM_001025108.1;AFF3,upstream_gene_variant,,ENST00000440445,;AFF3,upstream_gene_variant,,ENST00000432037,;AFF3,upstream_gene_variant,,ENST00000424600,;AFF3,upstream_gene_variant,,ENST00000441400,;AC092667.2,non_coding_transcript_exon_variant,,ENST00000434301,;AFF3,downstream_gene_variant,,ENST00000483600,;							MODIFIER	-/3681		AFF3_HUMAN			Transcript			.	ENSP00000387207		CCDS42723.1			1	
FAM132A	0	LGGM	GRCh37	1	1179867	1179867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	9	3	.	.	ENST00000330388.2:c.188C>A	p.Ala63Asp	p.A63D	ENST00000330388	NM_001014980.2	63	gCc/gAc	0	1	1	UPI00001D7E7A	0	NA	ENST00000330388		ENSG00000184163	32308		12	1.04		HGNC	p.A63D		FAM132A		SNV							ENST00000330388	protein_coding	getma.org/?cm=var&var=hg19,1,1179867,G,T&fts=all		hmmpanther:PTHR24019,hmmpanther:PTHR24019:SF9		A/D		T	low	220/1036		getma.org/?cm=msa&ty=f&p=F132A_HUMAN&rb=18&re=68&var=A63D	tolerated(0.05)				YES	FAM132A,missense_variant,p.Ala63Asp,ENST00000330388,NM_001014980.2;FAM132A,non_coding_transcript_exon_variant,,ENST00000486627,;FAM132A,upstream_gene_variant,,ENST00000462849,;FAM132A,upstream_gene_variant,,ENST00000468365,;FAM132A,upstream_gene_variant,,ENST00000478606,;							MODERATE	188/909	A63D	F132A_HUMAN			Transcript		benign(0.431)	.	ENSP00000329137		CCDS30554.1			1	
FAM83B	0	LGGM	GRCh37	6	54806452	54806452	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	46	3	.	.	ENST00000306858.7:c.2683C>A	p.Gln895Lys	p.Q895K	ENST00000306858	NM_001010872.2	895	Caa/Aaa	0	1	1	UPI00001D81EC	0	NA	ENST00000306858		ENSG00000168143	21357		49	2.125		HGNC	p.Q895K		FAM83B		SNV							ENST00000306858	protein_coding	getma.org/?cm=var&var=hg19,6,54806452,C,A&fts=all		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4		Q/K		A	medium	2799/3167		getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=524&re=1009&var=Q895K	deleterious(0.01)				YES	FAM83B,missense_variant,p.Gln895Lys,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;							MODERATE	2683/3036	Q895K	FA83B_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000304078		CCDS34479.1			1	
CCZ1	0	LGGM	GRCh37	7	5942331	5942331	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	13	3	.	.	ENST00000325974.6:c.478G>T	p.Gly160Cys	p.G160C	ENST00000325974	NM_015622.5	160	Ggc/Tgc	0	1	1	UPI000006CEFF	0	NA	ENST00000325974		ENSG00000122674	21691		16	1.32		HGNC	p.G17C		CCZ1		SNV							ENST00000537980	protein_coding	getma.org/?cm=var&var=hg19,7,5942331,G,T&fts=all		Pfam_domain:PF08217,hmmpanther:PTHR13056		G/C		T	low	544/1802		getma.org/?cm=msa&ty=f&p=CCZ1B_HUMAN&rb=1&re=200&var=G160C	deleterious(0)	Q7L8P3_HUMAN,F5H553_HUMAN			YES	CCZ1,missense_variant,p.Gly160Cys,ENST00000325974,NM_015622.5;CCZ1,missense_variant,p.Gly17Cys,ENST00000537980,;CCZ1,non_coding_transcript_exon_variant,,ENST00000483394,;CCZ1,downstream_gene_variant,,ENST00000478672,;CCZ1,downstream_gene_variant,,ENST00000461592,;							MODERATE	478/1449	G160C	CCZ1_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000325681		CCDS34597.1			1	
CACNA1G	0	LGGM	GRCh37	17	48694806	48694806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	28	3	.	.	ENST00000359106.5:c.5029C>A	p.Gln1677Lys	p.Q1677K	ENST00000359106	NM_018896.4	1677	Cag/Aag	0	1	1	UPI000012727A	0	getma.org/pdb.php?prot=CAC1G_HUMAN&from=1645&to=1850&var=Q1677K	ENST00000359106		ENSG00000006283	1394		31	1.185		HGNC	p.Q1620K		CACNA1G		SNV							ENST00000514717	protein_coding	getma.org/?cm=var&var=hg19,17,48694806,C,A&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF137,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		Q/K		A	low	5029/7648		getma.org/?cm=msa&ty=f&p=CAC1G_HUMAN&rb=1645&re=1850&var=Q1677K	deleterious(0)				YES	CACNA1G,missense_variant,p.Gln1643Lys,ENST00000352832,NM_198379.2,NM_198387.2,NM_001256334.1,NM_198388.2,NM_198376.2;CACNA1G,missense_variant,p.Gln1643Lys,ENST00000354983,NM_198396.2;CACNA1G,missense_variant,p.Gln1677Lys,ENST00000359106,NM_018896.4;CACNA1G,missense_variant,p.Gln1654Lys,ENST00000360761,NM_198382.2,NM_001256332.1;CACNA1G,missense_variant,p.Gln1636Lys,ENST00000442258,;CACNA1G,missense_variant,p.Gln1659Lys,ENST00000429973,NM_198386.2,NM_198378.2;CACNA1G,missense_variant,p.Gln1666Lys,ENST00000507336,NM_198377.2;CACNA1G,missense_variant,p.Gln1643Lys,ENST00000358244,;CACNA1G,missense_variant,p.Gln1677Lys,ENST00000507510,NM_198385.2;CACNA1G,missense_variant,p.Gln1666Lys,ENST00000515765,NM_198380.2;CACNA1G,missense_variant,p.Gln1659Lys,ENST00000515411,NM_001256324.1;CACNA1G,missense_variant,p.Gln1654Lys,ENST00000502264,NM_198383.2;CACNA1G,missense_variant,p.Gln1643Lys,ENST00000510115,;CACNA1G,missense_variant,p.Gln1684Lys,ENST00000514079,NM_001256325.1;CACNA1G,missense_variant,p.Gln1632Lys,ENST00000513689,NM_001256326.1;CACNA1G,missense_variant,p.Gln1677Lys,ENST00000515165,NM_198384.2;CACNA1G,missense_variant,p.Gln1677Lys,ENST00000507609,NM_001256327.1;CACNA1G,missense_variant,p.Gln1666Lys,ENST00000512389,;CACNA1G,missense_variant,p.Gln1659Lys,ENST00000514181,NM_001256328.1;CACNA1G,missense_variant,p.Gln1643Lys,ENST00000503485,NM_001256359.1,NM_001256329.1;CACNA1G,missense_variant,p.Gln1632Lys,ENST00000513964,NM_001256330.1,NM_001256361.1,NM_001256360.1;CACNA1G,missense_variant,p.Gln1625Lys,ENST00000510366,NM_001256331.1;CACNA1G,missense_variant,p.Gln1620Lys,ENST00000514717,;CACNA1G,missense_variant,p.Gln1677Lys,ENST00000505165,NM_001256333.1;CACNA1G,missense_variant,p.Gln1666Lys,ENST00000507896,;CACNA1G,missense_variant,p.Gln1677Lys,ENST00000506406,;CACNA1G,missense_variant,p.Gln1666Lys,ENST00000504076,;CACNA1G,missense_variant,p.Gln1659Lys,ENST00000511765,;CACNA1G,missense_variant,p.Gln1654Lys,ENST00000503436,;CACNA1G,missense_variant,p.Gln1654Lys,ENST00000511768,;CACNA1G,missense_variant,p.Gln1636Lys,ENST00000503607,;							MODERATE	5029/7134	Q1677K	CAC1G_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000352011		CCDS45730.1			1	
GAK	0	LGGM	GRCh37	4	891847	891847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	13	3	.	.	ENST00000314167.4:c.625C>A	p.Gln209Lys	p.Q209K	ENST00000314167	NM_005255.2	209	Cag/Aag	0	1	1	UPI000012B04A	0	getma.org/pdb.php?prot=GAK_HUMAN&from=40&to=313&var=Q209K	ENST00000314167		ENSG00000178950	4113		16	0.785		HGNC	p.Q130K		GAK		SNV							ENST00000511163	protein_coding	getma.org/?cm=var&var=hg19,4,891847,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23172,hmmpanther:PTHR23172:SF34,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/K		T	neutral	736/4442		getma.org/?cm=msa&ty=f&p=GAK_HUMAN&rb=40&re=313&var=Q209K	tolerated(0.41)	Q59HA5_HUMAN,D6RF16_HUMAN,D6RC24_HUMAN			YES	GAK,missense_variant,p.Gln209Lys,ENST00000314167,NM_005255.2;GAK,missense_variant,p.Gln130Lys,ENST00000511163,;GAK,missense_variant,p.Gln103Lys,ENST00000502656,;GAK,3_prime_UTR_variant,,ENST00000505819,;GAK,3_prime_UTR_variant,,ENST00000507580,;GAK,non_coding_transcript_exon_variant,,ENST00000507991,;GAK,upstream_gene_variant,,ENST00000504435,;GAK,downstream_gene_variant,,ENST00000512325,;							MODERATE	625/3936	Q209K	GAK_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000314499		CCDS3340.1			1	
ZMYM2	0	LGGM	GRCh37	13	20601359	20601359	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	28	3	.	.	ENST00000382869.3:c.1752C>A	p.Cys584Ter	p.C584*	ENST00000382869	NM_001190965.1	584	tgC/tgA	0	1		UPI000013C318	0	NA	ENST00000382871		ENSG00000121741	12989		31	0		HGNC	p.C584X		ZMYM2		SNV							ENST00000456228	protein_coding	getma.org/?cm=var&var=hg19,13,20601359,C,A&fts=all		Pfam_domain:PF06467,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF73,SMART_domains:SM00746		C/*		A	NA	1937/5051		NA						ZMYM2,stop_gained,p.Cys584Ter,ENST00000382869,NM_001190965.1,NM_003453.3,NM_197968.2;ZMYM2,stop_gained,p.Cys584Ter,ENST00000382874,NM_001190964.1;ZMYM2,stop_gained,p.Cys584Ter,ENST00000382871,;ZMYM2,stop_gained,p.Cys66Ter,ENST00000382883,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000468677,;ZMYM2,non_coding_transcript_exon_variant,,ENST00000382870,;							HIGH	1752/4134	C584*	ZMYM2_HUMAN			Transcript			.	ENSP00000372324		CCDS45016.1			1	
AXIN2	0	LGGM	GRCh37	17	63534420	63534420	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	17	3	.	.	ENST00000307078.5:c.1101C>A	p.Pro367=	p.P367=	ENST00000307078	NM_004655.3	367	ccC/ccA	0	1	1	UPI00001AEE5A	0		ENST00000307078		ENSG00000168646	904		20			HGNC	p.P367P		AXIN2		SNV			1				ENST00000375702	protein_coding			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF103		P		T		1415/4259				J3QRK4_HUMAN,J3QQJ3_HUMAN,F5GX43_HUMAN			YES	AXIN2,synonymous_variant,p.=,ENST00000307078,NM_004655.3;AXIN2,synonymous_variant,p.=,ENST00000375702,;CTD-2535L24.2,3_prime_UTR_variant,,ENST00000577662,;AXIN2,upstream_gene_variant,,ENST00000578251,;							LOW	1101/2532		AXIN2_HUMAN			Transcript			.	ENSP00000302625		CCDS11662.1			1	
TMEM106B	0	LGGM	GRCh37	7	12254501	12254501	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	36	3	.	.	ENST00000396667.3:c.65C>A	p.Thr22Lys	p.T22K	ENST00000396667	NM_018374.3	22	aCa/aAa	0	1	1	UPI000003ED3C	0	NA	ENST00000396667		ENSG00000106460	22407		39	0.69		HGNC	p.T22K		TMEM106B		SNV							ENST00000442107	protein_coding	getma.org/?cm=var&var=hg19,7,12254501,C,A&fts=all		Pfam_domain:PF07092		T/K		A	neutral	387/12539		getma.org/?cm=msa&ty=f&p=T106B_HUMAN&rb=14&re=258&var=T22K	tolerated(0.14)	C9JZ87_HUMAN,C9J998_HUMAN			YES	TMEM106B,missense_variant,p.Thr22Lys,ENST00000396667,NM_018374.3;TMEM106B,missense_variant,p.Thr22Lys,ENST00000396668,NM_001134232.1;TMEM106B,missense_variant,p.Thr22Lys,ENST00000444443,;TMEM106B,missense_variant,p.Thr22Lys,ENST00000442107,;TMEM106B,non_coding_transcript_exon_variant,,ENST00000453686,;TMEM106B,missense_variant,p.Thr22Lys,ENST00000420833,;							MODERATE	65/825	T22K	T106B_HUMAN			Transcript		benign(0.081)	.	ENSP00000379901		CCDS5358.1			1	
SPPL2C	0	LGGM	GRCh37	17	43923997	43923997	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	3	.	.	ENST00000329196.5:c.1725C>A	p.Asn575Lys	p.N575K	ENST00000329196	NM_175882.2	575	aaC/aaA	0	1	1	UPI0000EE80B4	0	NA	ENST00000329196		ENSG00000185294	28902		34	1.61		HGNC	p.N575K		SPPL2C		SNV							ENST00000329196	protein_coding	getma.org/?cm=var&var=hg19,17,43923997,C,A&fts=all		hmmpanther:PTHR12174,hmmpanther:PTHR12174:SF38		N/K		A	low	1742/2183		getma.org/?cm=msa&ty=f&p=SPP2C_HUMAN&rb=401&re=600&var=N575K	tolerated(0.16)				YES	SPPL2C,missense_variant,p.Asn575Lys,ENST00000329196,NM_175882.2;MAPT-AS1,intron_variant,,ENST00000579599,;MAPT-AS1,intron_variant,,ENST00000579244,;MAPT-AS1,upstream_gene_variant,,ENST00000581125,;							MODERATE	1725/2055	N575K	SPP2C_HUMAN			Transcript		benign(0.004)	.	ENSP00000332488		CCDS32673.1			1	
MYO5C	0	LGGM	GRCh37	15	52537578	52537578	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	37	3	.	.	ENST00000261839.7:c.2151C>A	p.Cys717Ter	p.C717*	ENST00000261839	NM_018728.3	717	tgC/tgA	0	1	1	UPI000013D20E	0	NA	ENST00000261839		ENSG00000128833	7604		40	0		HGNC	p.C717X		MYO5C		SNV							ENST00000261839	protein_coding	getma.org/?cm=var&var=hg19,15,52537578,G,T&fts=all		PROSITE_profiles:PS51456,hmmpanther:PTHR13140:SF313,hmmpanther:PTHR13140,Pfam_domain:PF00063,SMART_domains:SM00242,Superfamily_domains:SSF52540		C/*		T	NA	2313/6971		NA		Q14783_HUMAN,H0YM93_HUMAN			YES	MYO5C,stop_gained,p.Cys717Ter,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,;							HIGH	2151/5229	C717*	MYO5C_HUMAN			Transcript			.	ENSP00000261839		CCDS42036.1			1	
CLPB	0	LGGM	GRCh37	11	72013350	72013350	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	40	3	.	.	ENST00000294053.3:c.1255G>T	p.Glu419Ter	p.E419*	ENST00000294053	NM_001258394.1	419	Gag/Tag	0	1	1	UPI00001359D5	0	NA	ENST00000294053		ENSG00000162129	30664		43	0		HGNC	p.E27X		CLPB		SNV			1				ENST00000538021	protein_coding	getma.org/?cm=var&var=hg19,11,72013350,C,A&fts=all		hmmpanther:PTHR11638,Pfam_domain:PF07724,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		E/*		A	NA	1429/3240		NA		F5H392_HUMAN			YES	CLPB,stop_gained,p.Glu419Ter,ENST00000294053,NM_001258394.1,NM_030813.4;CLPB,stop_gained,p.Glu389Ter,ENST00000538039,NM_001258392.1;CLPB,stop_gained,p.Glu374Ter,ENST00000437826,;CLPB,stop_gained,p.Glu424Ter,ENST00000535990,;CLPB,stop_gained,p.Glu218Ter,ENST00000543042,;CLPB,stop_gained,p.Glu360Ter,ENST00000340729,NM_001258393.1;CLPB,stop_gained,p.Glu27Ter,ENST00000538021,;CLPB,stop_gained,p.Glu197Ter,ENST00000544382,;AP000593.7,non_coding_transcript_exon_variant,,ENST00000546065,;CLPB,stop_gained,p.Glu389Ter,ENST00000535477,;							HIGH	1255/2124	E419*	CLPB_HUMAN			Transcript			.	ENSP00000294053		CCDS8215.1			1	
JAK2	0	LGGM	GRCh37	9	5022096	5022096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	41	3	.	.	ENST00000381652.3:c.109C>A	p.Pro37Thr	p.P37T	ENST00000381652	NM_004972.3	37	Cca/Aca	0	1	1	UPI000012DA9E	0	NA	ENST00000381652		ENSG00000096968	6192		44	-0.115		HGNC	p.P37T		JAK2		SNV			1				ENST00000381652	protein_coding	getma.org/?cm=var&var=hg19,9,5022096,C,A&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,PIRSF_domain:PIRSF000636,SMART_domains:SM00295		P/T		A	neutral	603/5285		getma.org/?cm=msa&ty=f&p=JAK2_HUMAN&rb=37&re=380&var=P37T	tolerated(0.35)	Q8IXP2_HUMAN,F5H5U8_HUMAN			YES	JAK2,missense_variant,p.Pro37Thr,ENST00000381652,NM_004972.3;JAK2,missense_variant,p.Pro37Thr,ENST00000539801,;JAK2,downstream_gene_variant,,ENST00000476574,;							MODERATE	109/3399	P37T	JAK2_HUMAN			Transcript		benign(0.001)	.	ENSP00000371067		CCDS6457.1			1	
NDUFAF1	0	LGGM	GRCh37	15	41688790	41688790	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	33	3	.	.	ENST00000260361.4:c.468G>T	p.Lys156Asn	p.K156N	ENST00000260361	NM_016013.3	156	aaG/aaT	0	1	1	UPI0000127985	0	NA	ENST00000260361		ENSG00000137806	18828		36	0.905		HGNC	p.K156N		NDUFAF1		SNV			1				ENST00000560978	protein_coding	getma.org/?cm=var&var=hg19,15,41688790,C,A&fts=all		hmmpanther:PTHR13194,hmmpanther:PTHR13194:SF18,Pfam_domain:PF08547,Superfamily_domains:SSF49785		K/N		A	low	850/1457		getma.org/?cm=msa&ty=f&p=CIA30_HUMAN&rb=125&re=298&var=K156N	deleterious(0.04)	H0YNN4_HUMAN,H0YNB7_HUMAN			YES	NDUFAF1,missense_variant,p.Lys156Asn,ENST00000260361,NM_016013.3;NDUFAF1,missense_variant,p.Lys156Asn,ENST00000558719,;NDUFAF1,missense_variant,p.Lys156Asn,ENST00000560978,;NDUFAF1,missense_variant,p.Lys156Asn,ENST00000559127,;							MODERATE	468/984	K156N	CIA30_HUMAN			Transcript		benign(0.182)	.	ENSP00000260361		CCDS10075.1			1	
ECHS1	0	LGGM	GRCh37	10	135184225	135184225	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	30	3	.	.	ENST00000368547.3:c.125G>T	p.Gly42Val	p.G42V	ENST00000368547	NM_004092.3	42	gGg/gTg	0	1	1	UPI000013CC49	0	getma.org/pdb.php?prot=ECHM_HUMAN&from=40&to=282&var=G42V	ENST00000368547		ENSG00000127884	3151		33	0.75		HGNC	p.G42V		ECHS1		SNV			1				ENST00000368547	protein_coding	getma.org/?cm=var&var=hg19,10,135184225,C,A&fts=all		hmmpanther:PTHR11941,hmmpanther:PTHR11941:SF24,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		G/V		A	neutral	481/1617		getma.org/?cm=msa&ty=f&p=ECHM_HUMAN&rb=40&re=282&var=G42V	deleterious(0.01)				YES	ECHS1,missense_variant,p.Gly42Val,ENST00000368547,NM_004092.3;MIR3944,downstream_gene_variant,,ENST00000581277,;							MODERATE	125/873	G42V	ECHM_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000357535		CCDS7681.1			1	
FAM72A	0	LGGM	GRCh37	1	206145541	206145541	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	35	3	.	.	ENST00000367128.3:c.318C>A	p.Ser106Arg	p.S106R	ENST00000367128		106	agC/agA	0	1	1	UPI0000046C34	0	NA	ENST00000367128		ENSG00000196550	24044		38	2.33		HGNC	p.S106R		FAM72A		SNV							ENST00000367128	protein_coding	getma.org/?cm=var&var=hg19,1,206145541,C,A&fts=all		hmmpanther:PTHR31841,Pfam_domain:PF14976		S/R		A	medium	1166/2398		getma.org/?cm=msa&ty=f&p=FA72A_HUMAN&rb=1&re=147&var=S106R	deleterious(0.01)	U3KPW2_HUMAN			YES	FAM72A,missense_variant,p.Ser106Arg,ENST00000367128,;FAM72A,missense_variant,p.Ser66Arg,ENST00000341209,NM_001123168.1;FAM72A,missense_variant,p.Ser77Arg,ENST00000431655,;FAM72A,missense_variant,p.Ser106Arg,ENST00000367129,;FAM72A,non_coding_transcript_exon_variant,,ENST00000470041,;FAM72A,downstream_gene_variant,,ENST00000481737,;							MODERATE	318/450	S106R	FA72A_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000356096		CCDS41458.1			1	
XRCC1	0	LGGM	GRCh37	19	44057638	44057638	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	3	.	.	ENST00000262887.5:c.516G>T	p.Gln172His	p.Q172H	ENST00000262887		172	caG/caT	0	1	1	UPI000013D351	0	NA	ENST00000262887		ENSG00000073050	12828		22	2.215		HGNC	p.Q141H		XRCC1		SNV							ENST00000543982	protein_coding	getma.org/?cm=var&var=hg19,19,44057638,C,A&fts=all		hmmpanther:PTHR11370,hmmpanther:PTHR11370:SF1		Q/H		A	medium	1064/2802		getma.org/?cm=msa&ty=f&p=XRCC1_HUMAN&rb=152&re=314&var=Q172H	deleterious(0.02)	M4WFF9_HUMAN			YES	XRCC1,missense_variant,p.Gln172His,ENST00000262887,;XRCC1,missense_variant,p.Gln141His,ENST00000543982,NM_006297.2;XRCC1,missense_variant,p.Gln179His,ENST00000598165,;XRCC1,missense_variant,p.Gln148His,ENST00000599693,;XRCC1,missense_variant,p.Gln135His,ENST00000594107,;L34079.2,downstream_gene_variant,,ENST00000594374,;L34079.3,non_coding_transcript_exon_variant,,ENST00000597119,;XRCC1,missense_variant,p.Gln101His,ENST00000597811,;XRCC1,non_coding_transcript_exon_variant,,ENST00000595789,;XRCC1,non_coding_transcript_exon_variant,,ENST00000598422,;							MODERATE	516/1902	Q172H	XRCC1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262887		CCDS12624.1			1	
RAB15	0	LGGM	GRCh37	14	65415408	65415408	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	3	.	.	ENST00000267512.5:c.589G>T	p.Ala197Ser	p.A197S	ENST00000267512	NM_198686.2	197	Gca/Tca	0	1		UPI0000049C59	0	NA	ENST00000533601		ENSG00000139998	20150		19	0		HGNC	p.C153F		RAB15		SNV							ENST00000533601	protein_coding	getma.org/?cm=var&var=hg19,14,65415408,C,A&fts=all		Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,hmmpanther:PTHR24073:SF367,hmmpanther:PTHR24073,PROSITE_profiles:PS51419		C/F		A	neutral	796/3515		getma.org/?cm=msa&ty=f&p=G5EMR7_HUMAN&rb=1&re=200&var=A197S	tolerated(0.11)	G5EMR8_HUMAN,G3V562_HUMAN,G3V196_HUMAN				RAB15,missense_variant,p.Cys153Phe,ENST00000533601,;RAB15,missense_variant,p.Ala197Ser,ENST00000267512,NM_198686.2;RAB15,missense_variant,p.Cys107Phe,ENST00000426039,;RAB15,missense_variant,p.Cys107Phe,ENST00000554593,;RAB15,3_prime_UTR_variant,,ENST00000436278,;FNTB,intron_variant,,ENST00000542227,NM_001202558.1;CHURC1-FNTB,intron_variant,,ENST00000549987,NM_001202559.1;FNTB,intron_variant,,ENST00000447296,;CHURC1-FNTB,intron_variant,,ENST00000553743,;CHURC1,downstream_gene_variant,,ENST00000551947,;CHURC1,downstream_gene_variant,,ENST00000551093,;RAB15,3_prime_UTR_variant,,ENST00000585059,;RAB15,non_coding_transcript_exon_variant,,ENST00000555256,;CHURC1-FNTB,intron_variant,,ENST00000552941,;CHURC1-FNTB,intron_variant,,ENST00000551823,;							MODERATE	458/639	A197S	RAB15_HUMAN			Transcript		benign(0.003)	.	ENSP00000434103					1	
TMEM180	0	LGGM	GRCh37	10	104230472	104230472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	34	3	.	.	ENST00000238936.4:c.302C>A	p.Ala101Asp	p.A101D	ENST00000238936	NM_024789.3	101	gCc/gAc	0	1	1	UPI00002374ED	0	NA	ENST00000238936		ENSG00000138111	26196		37	2.455		HGNC	p.A101D		TMEM180		SNV							ENST00000238936	protein_coding	getma.org/?cm=var&var=hg19,10,104230472,C,A&fts=all		Pfam_domain:PF13347,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		A/D		A	medium	539/2852		getma.org/?cm=msa&ty=f&p=TM180_HUMAN&rb=8&re=492&var=A101D	deleterious(0.02)	B4DKJ1_HUMAN			YES	TMEM180,missense_variant,p.Ala101Asp,ENST00000238936,NM_024789.3;TMEM180,intron_variant,,ENST00000366277,;TMEM180,intron_variant,,ENST00000369931,;TMEM180,downstream_gene_variant,,ENST00000450947,;TMEM180,upstream_gene_variant,,ENST00000469294,;TMEM180,downstream_gene_variant,,ENST00000428200,;							MODERATE	302/1554	A101D	TM180_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000238936		CCDS7535.1			1	
GLE1	0	LGGM	GRCh37	9	131289777	131289777	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	26	3	.	.	ENST00000309971.4:c.1285C>A	p.Pro429Thr	p.P429T	ENST00000309971	NM_001003722.1	429	Cca/Aca	0	1	1	UPI000013EF77	0	NA	ENST00000309971		ENSG00000119392	4315		29	2.74		HGNC	p.P429T		GLE1		SNV			1				ENST00000309971	protein_coding	getma.org/?cm=var&var=hg19,9,131289777,C,A&fts=all		hmmpanther:PTHR12960:SF0,hmmpanther:PTHR12960,Pfam_domain:PF07817		P/T		A	medium	1391/3321		getma.org/?cm=msa&ty=f&p=GLE1_HUMAN&rb=393&re=651&var=P429T	deleterious(0)	B3KMG0_HUMAN			YES	GLE1,missense_variant,p.Pro429Thr,ENST00000309971,NM_001003722.1;GLE1,missense_variant,p.Pro175Thr,ENST00000539582,;GLE1,missense_variant,p.Pro429Thr,ENST00000372770,NM_001499.2;RP11-216B9.6,downstream_gene_variant,,ENST00000434999,;GLE1,non_coding_transcript_exon_variant,,ENST00000494417,;							MODERATE	1285/2097	P429T	GLE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308622		CCDS35154.1			1	
REV1	0	LGGM	GRCh37	2	100019177	100019177	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	44	3	.	.	ENST00000258428.3:c.3471C>A	p.Pro1157=	p.P1157=	ENST00000258428	NM_001037872.1	1157	ccC/ccA	0	1	1	UPI0000073A14	0		ENST00000258428		ENSG00000135945	14060		47			HGNC	p.P1156P		REV1		SNV							ENST00000393445	protein_coding			PIRSF_domain:PIRSF036573		P		T		3700/4751							YES	REV1,synonymous_variant,p.=,ENST00000258428,NM_001037872.1,NM_016316.2;REV1,synonymous_variant,p.=,ENST00000393445,;EIF5B,downstream_gene_variant,,ENST00000289371,NM_015904.3;RP11-527J8.1,upstream_gene_variant,,ENST00000608144,;REV1,intron_variant,,ENST00000482595,;REV1,downstream_gene_variant,,ENST00000465835,;REV1,3_prime_UTR_variant,,ENST00000413697,;REV1,non_coding_transcript_exon_variant,,ENST00000465086,;EIF5B,downstream_gene_variant,,ENST00000470023,;REV1,downstream_gene_variant,,ENST00000485487,;REV1,downstream_gene_variant,,ENST00000472000,;EIF5B,downstream_gene_variant,,ENST00000494190,;REV1,downstream_gene_variant,,ENST00000477121,;REV1,downstream_gene_variant,,ENST00000438366,;							LOW	3471/3756		REV1_HUMAN			Transcript			.	ENSP00000258428		CCDS2045.1			1	
FAM3B	0	LGGM	GRCh37	21	42694914	42694914	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	20	3	.	.	ENST00000357985.2:c.84C>A	p.Leu28=	p.L28=	ENST00000357985	NM_058186.3	28	ctC/ctA	0	1	1	UPI00000015C5	0		ENST00000357985		ENSG00000183844	1253		23			HGNC	p.L51L		FAM3B		SNV							ENST00000398646	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF2		L		A		230/1088							YES	FAM3B,synonymous_variant,p.=,ENST00000398652,;FAM3B,synonymous_variant,p.=,ENST00000357985,NM_058186.3;FAM3B,synonymous_variant,p.=,ENST00000398646,;FAM3B,intron_variant,,ENST00000398647,NM_206964.1;FAM3B,non_coding_transcript_exon_variant,,ENST00000479810,;FAM3B,non_coding_transcript_exon_variant,,ENST00000518236,;							LOW	84/708		FAM3B_HUMAN			Transcript			.	ENSP00000350673		CCDS13671.1			1	
BMP4	0	LGGM	GRCh37	14	54416962	54416962	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	3	.	.	ENST00000245451.4:c.1015G>T	p.Gly339Trp	p.G339W	ENST00000245451	NM_001202.3	339	Ggg/Tgg	0	1	1	UPI000000CC31	0	getma.org/pdb.php?prot=BMP4_HUMAN&from=305&to=408&var=G339W	ENST00000245451		ENSG00000125378	1071		34	4.875		HGNC	p.G339W		BMP4		SNV			1				ENST00000417573	protein_coding	getma.org/?cm=var&var=hg19,14,54416962,C,A&fts=all		Superfamily_domains:SSF57501,SMART_domains:SM00204,Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_patterns:PS00250,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF49,PROSITE_profiles:PS51362		G/W		A	high	1409/1917		getma.org/?cm=msa&ty=f&p=BMP4_HUMAN&rb=305&re=408&var=G339W	deleterious(0)	U3MVU6_HUMAN,Q53XC5_HUMAN,H0YM53_HUMAN,H0YLW3_HUMAN			YES	BMP4,missense_variant,p.Gly339Trp,ENST00000245451,NM_001202.3;BMP4,missense_variant,p.Gly339Trp,ENST00000417573,NM_130851.2;BMP4,missense_variant,p.Gly339Trp,ENST00000559087,NM_130850.2;BMP4,missense_variant,p.Gly339Trp,ENST00000558984,;BMP4,downstream_gene_variant,,ENST00000559501,;BMP4,downstream_gene_variant,,ENST00000559642,;BMP4,downstream_gene_variant,,ENST00000558961,;BMP4,downstream_gene_variant,,ENST00000609748,;MIR5580,upstream_gene_variant,,ENST00000580850,;							MODERATE	1015/1227	G339W	BMP4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000245451		CCDS9715.1			1	
MYBPC1	0	LGGM	GRCh37	12	102074159	102074159	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	23	3	.	.	ENST00000452455.2:c.3264G>T	p.Val1088=	p.V1088=	ENST00000452455	NM_001254718.1	1088	gtG/gtT	0	1		UPI000012FBC7	0		ENST00000550270		ENSG00000196091	7549		26			HGNC	p.V1088V		MYBPC1		SNV			1				ENST00000550270	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF43,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		V		T		3264/3426				F8W1Z9_HUMAN				MYBPC1,synonymous_variant,p.=,ENST00000549145,;MYBPC1,synonymous_variant,p.=,ENST00000551300,;MYBPC1,synonymous_variant,p.=,ENST00000441232,NM_001254719.1;MYBPC1,synonymous_variant,p.=,ENST00000361466,NM_002465.3;MYBPC1,synonymous_variant,p.=,ENST00000361685,NM_206819.2;MYBPC1,synonymous_variant,p.=,ENST00000452455,NM_001254718.1;MYBPC1,synonymous_variant,p.=,ENST00000360610,NM_206820.2;MYBPC1,synonymous_variant,p.=,ENST00000547405,NM_001254722.1;MYBPC1,synonymous_variant,p.=,ENST00000553190,NM_206821.2;MYBPC1,synonymous_variant,p.=,ENST00000547509,;MYBPC1,synonymous_variant,p.=,ENST00000392934,NM_001254723.1;MYBPC1,synonymous_variant,p.=,ENST00000545503,;MYBPC1,synonymous_variant,p.=,ENST00000541119,NM_001254720.1;MYBPC1,synonymous_variant,p.=,ENST00000536007,NM_001254721.1;MYBPC1,synonymous_variant,p.=,ENST00000550270,;MYBPC1,intron_variant,,ENST00000550501,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000549608,;							LOW	3264/3426		MYPC1_HUMAN			Transcript			.	ENSP00000449702		CCDS9085.1			1	
TGM7	0	LGGM	GRCh37	15	43579628	43579628	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	20	3	.	.	ENST00000452443.2:c.715C>A	p.Leu239Met	p.L239M	ENST00000452443	NM_052955.2	239	Ctg/Atg	0	1	1	UPI0000049F68	0	getma.org/pdb.php?prot=TGM7_HUMAN&from=126&to=256&var=L239M	ENST00000452443		ENSG00000159495	30790		23	2.73		HGNC	p.L239M		TGM7		SNV							ENST00000452443	protein_coding	getma.org/?cm=var&var=hg19,15,43579628,G,T&fts=all		Gene3D:1ex0A02,PIRSF_domain:PIRSF000459,hmmpanther:PTHR11590,hmmpanther:PTHR11590:SF41,Superfamily_domains:SSF54001		L/M		T	medium	720/2313		getma.org/?cm=msa&ty=f&p=TGM7_HUMAN&rb=126&re=256&var=L239M	deleterious(0.01)				YES	TGM7,missense_variant,p.Leu239Met,ENST00000452443,NM_052955.2;							MODERATE	715/2133	L239M	TGM7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000389466		CCDS32213.1			1	
ATP6V1E1	0	LGGM	GRCh37	22	18095617	18095617	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	40	3	.	.	ENST00000253413.5:c.237G>T	p.Ala79=	p.A79=	ENST00000253413	NM_001696.3	79	gcG/gcT	0	1	1	UPI0000000C60	0		ENST00000253413		ENSG00000131100	857		43			HGNC	p.A79A		ATP6V1E1		SNV							ENST00000253413	protein_coding			Pfam_domain:PF01991,hmmpanther:PTHR11583,hmmpanther:PTHR11583:SF2,HAMAP:MF_00311		A		A		420/1402				Q53Y06_HUMAN			YES	ATP6V1E1,synonymous_variant,p.=,ENST00000253413,NM_001696.3;ATP6V1E1,synonymous_variant,p.=,ENST00000399796,NM_001039367.1;ATP6V1E1,synonymous_variant,p.=,ENST00000399798,NM_001039366.1;ATP6V1E1,synonymous_variant,p.=,ENST00000413576,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000478963,;ATP6V1E1,downstream_gene_variant,,ENST00000460085,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000484653,;ATP6V1E1,non_coding_transcript_exon_variant,,ENST00000481365,;							LOW	237/681		VATE1_HUMAN			Transcript			.	ENSP00000253413		CCDS13745.1			1	
PRDM14	0	LGGM	GRCh37	8	70981741	70981741	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	9	3	.	.	ENST00000276594.2:c.355C>A	p.His119Asn	p.H119N	ENST00000276594	NM_024504.3	119	Cac/Aac	0	1	1	UPI0000132186	0	NA	ENST00000276594		ENSG00000147596	14001		12	0.695		HGNC	p.H119N		PRDM14		SNV							ENST00000276594	protein_coding	getma.org/?cm=var&var=hg19,8,70981741,G,T&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354		H/N		T	neutral	557/2344		getma.org/?cm=msa&ty=f&p=PRD14_HUMAN&rb=22&re=192&var=H119N	tolerated_low_confidence(0.38)	C9JMM8_HUMAN			YES	PRDM14,missense_variant,p.His119Asn,ENST00000276594,NM_024504.3;PRDM14,downstream_gene_variant,,ENST00000426346,;							MODERATE	355/1716	H119N	PRD14_HUMAN			Transcript		benign(0.006)	.	ENSP00000276594		CCDS6206.1			1	
BCR	0	LGGM	GRCh37	22	23524296	23524296	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	12	3	.	.	ENST00000305877.8:c.1149C>A	p.Pro383=	p.P383=	ENST00000305877	NM_004327.3	383	ccC/ccA	0	1	1	UPI000016A088	0		ENST00000305877		ENSG00000186716	1014		15			HGNC	p.P383P		BCR		SNV			1				ENST00000398512	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23182:SF3,hmmpanther:PTHR23182		P		A		1900/7082							YES	BCR,synonymous_variant,p.=,ENST00000305877,NM_004327.3;BCR,synonymous_variant,p.=,ENST00000359540,NM_021574.2;BCR,synonymous_variant,p.=,ENST00000398512,;BCR,intron_variant,,ENST00000479188,;BCRP8,upstream_gene_variant,,ENST00000593306,;BCRP8,upstream_gene_variant,,ENST00000412037,;							LOW	1149/3816		BCR_HUMAN			Transcript			.	ENSP00000303507		CCDS13806.1			1	
SERPINE3	0	LGGM	GRCh37	13	51918442	51918442	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	32	3	.	.	ENST00000521255.1:c.311G>T	p.Ser104Ile	p.S104I	ENST00000521255	NM_001101320.1	104	aGc/aTc	0	1	1	UPI00001B2164	0	getma.org/pdb.php?prot=SERP3_HUMAN&from=29&to=400&var=S104I	ENST00000521255		ENSG00000253309	24774		35	1.87		HGNC	p.S104I		SERPINE3		SNV							ENST00000521255	protein_coding	getma.org/?cm=var&var=hg19,13,51918442,G,T&fts=all		Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF129		S/I		T	low	371/1439		getma.org/?cm=msa&ty=f&p=SERP3_HUMAN&rb=29&re=400&var=S104I	deleterious(0.02)	E5RG55_HUMAN			YES	SERPINE3,missense_variant,p.Ser104Ile,ENST00000524365,;SERPINE3,missense_variant,p.Ser104Ile,ENST00000521255,NM_001101320.1;SERPINE3,missense_variant,p.Ser104Ile,ENST00000400389,;SERPINE3,downstream_gene_variant,,ENST00000419898,;MIR5693,downstream_gene_variant,,ENST00000577722,;							MODERATE	311/1275	S104I	SERP3_HUMAN			Transcript		possibly_damaging(0.824)	.	ENSP00000428316		CCDS53870.1			1	
FGFR1	0	LGGM	GRCh37	8	38280677	38280677	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	30	3	.	.	ENST00000425967.3:c.1030-1218G>T		*344*	ENST00000425967	NM_001174067.1			0	1		UPI00000534B8	0		ENST00000447712		ENSG00000077782	3688		33			HGNC	p.S319I		FGFR1		SNV			1				ENST00000341462	protein_coding							A		-/5900				E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,missense_variant,p.Ser319Ile,ENST00000341462,;FGFR1,missense_variant,p.Ser227Ile,ENST00000397103,;FGFR1,intron_variant,,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,intron_variant,,ENST00000397091,;FGFR1,intron_variant,,ENST00000532791,;FGFR1,intron_variant,,ENST00000425967,NM_001174067.1;FGFR1,intron_variant,,ENST00000335922,NM_001174064.1;FGFR1,intron_variant,,ENST00000356207,NM_023105.2;FGFR1,intron_variant,,ENST00000326324,NM_023106.2;FGFR1,intron_variant,,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,intron_variant,,ENST00000397108,;FGFR1,downstream_gene_variant,,ENST00000525001,;FGFR1,downstream_gene_variant,,ENST00000529552,;FGFR1,downstream_gene_variant,,ENST00000526742,;FGFR1,downstream_gene_variant,,ENST00000533668,;FGFR1,downstream_gene_variant,,ENST00000530568,;RP11-350N15.4,intron_variant,,ENST00000528407,;FGFR1,intron_variant,,ENST00000530701,;FGFR1,downstream_gene_variant,,ENST00000527203,;FGFR1,non_coding_transcript_exon_variant,,ENST00000464163,;FGFR1,intron_variant,,ENST00000526570,;FGFR1,intron_variant,,ENST00000487647,;FGFR1,intron_variant,,ENST00000475621,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,downstream_gene_variant,,ENST00000496296,;FGFR1,upstream_gene_variant,,ENST00000527114,;FGFR1,downstream_gene_variant,,ENST00000484370,;FGFR1,upstream_gene_variant,,ENST00000466021,;FGFR1,upstream_gene_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000474970,;FGFR1,downstream_gene_variant,,ENST00000532386,;FGFR1,upstream_gene_variant,,ENST00000524528,;							MODIFIER	-/2469		FGFR1_HUMAN			Transcript			.	ENSP00000400162		CCDS6107.2			1	
ACAD11	0	LGGM	GRCh37	3	132280059	132280059	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	22	3	.	.	ENST00000264990.6:c.2004G>T	p.Glu668Asp	p.E668D	ENST00000264990	NM_032169.4	668	gaG/gaT	0	1	1	UPI00003671B7	0	getma.org/pdb.php?prot=ACD11_HUMAN&from=618&to=769&var=E668D	ENST00000264990		ENSG00000240303	30211		25	1.17		HGNC	p.E564D		ACAD11		SNV							ENST00000355458	protein_coding	getma.org/?cm=var&var=hg19,3,132280059,C,A&fts=all		hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF195,Gene3D:1.20.140.10,Pfam_domain:PF00441,Superfamily_domains:SSF47203		E/D		A	low	2976/4142		getma.org/?cm=msa&ty=f&p=ACD11_HUMAN&rb=618&re=769&var=E668D	tolerated(0.39)	Q08AE9_HUMAN,B4DQ41_HUMAN			YES	ACAD11,missense_variant,p.Glu668Asp,ENST00000264990,NM_032169.4;ACAD11,missense_variant,p.Glu564Asp,ENST00000355458,;ACAD11,missense_variant,p.Glu193Asp,ENST00000545291,;NPHP3,splice_region_variant,,ENST00000471702,;ACAD11,splice_region_variant,,ENST00000496418,;ACAD11,splice_region_variant,,ENST00000469042,;ACAD11,splice_region_variant,,ENST00000485198,;							MODERATE	2004/2343	E668D	ACD11_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000264990		CCDS3074.1			1	
ACCSL	0	LGGM	GRCh37	11	44079971	44079971	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	44	3	.	.	ENST00000378832.1:c.1432C>A	p.Arg478Ser	p.R478S	ENST00000378832	NM_001031854.2	478	Cgc/Agc	0	1	1	UPI000023785D	0	getma.org/pdb.php?prot=1A1L2_HUMAN&from=169&to=545&var=R478S	ENST00000378832		ENSG00000205126	34391		47	-0.215		HGNC	p.R478S		ACCSL		SNV							ENST00000378832	protein_coding	getma.org/?cm=var&var=hg19,11,44079971,C,A&fts=all		hmmpanther:PTHR11751:SF344,hmmpanther:PTHR11751,Pfam_domain:PF00155,Gene3D:3.90.1150.10,Superfamily_domains:SSF53383		R/S		A	neutral	1488/1820		getma.org/?cm=msa&ty=f&p=1A1L2_HUMAN&rb=169&re=545&var=R478S	tolerated(0.15)				YES	ACCSL,missense_variant,p.Arg478Ser,ENST00000378832,NM_001031854.2;ACCSL,3_prime_UTR_variant,,ENST00000527145,;							MODERATE	1432/1707	R478S	1A1L2_HUMAN			Transcript		benign(0.157)	.	ENSP00000368109		CCDS41636.1			1	
KCNJ5	0	LGGM	GRCh37	11	128781503	128781503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	43	3	.	.	ENST00000529694.1:c.335C>A	p.Ala112Asp	p.A112D	ENST00000529694	NM_000890.3	112	gCt/gAt	0	1		UPI000013D428	0	getma.org/pdb.php?prot=IRK5_HUMAN&from=54&to=385&var=A112D	ENST00000338350		ENSG00000120457	6266		46	3.805		HGNC	p.A112D		KCNJ5		SNV			1				ENST00000529694	protein_coding	getma.org/?cm=var&var=hg19,11,128781503,C,A&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR01320,Superfamily_domains:SSF81324,PIRSF_domain:PIRSF005465,Gene3D:1.10.287.70,Pfam_domain:PF01007,hmmpanther:PTHR11767:SF18,hmmpanther:PTHR11767		A/D		A	high	687/1734		getma.org/?cm=msa&ty=f&p=IRK5_HUMAN&rb=54&re=385&var=A112D	deleterious(0)	H9A8L0_HUMAN,H9A8K9_HUMAN				KCNJ5,missense_variant,p.Ala112Asp,ENST00000529694,NM_000890.3;KCNJ5,missense_variant,p.Ala112Asp,ENST00000338350,;KCNJ5,missense_variant,p.Ala112Asp,ENST00000533599,;							MODERATE	335/1260	A112D	IRK5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000339960		CCDS8479.1			1	
MORC2	0	LGGM	GRCh37	22	31329492	31329492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	40	3	.	.	ENST00000215862.4:c.2155G>T	p.Gly719Trp	p.G719W	ENST00000215862	NM_014941.1	719	Ggg/Tgg	0	1		UPI000041AB7E	0	NA	ENST00000397641		ENSG00000133422	23573		43	1.59		HGNC	p.G719W		MORC2		SNV							ENST00000215862	protein_coding	getma.org/?cm=var&var=hg19,22,31329492,C,A&fts=all		hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337		G/W		A	low	2750/5181		getma.org/?cm=msa&ty=f&p=MORC2_HUMAN&rb=744&re=943&var=G781W	deleterious_low_confidence(0)					MORC2,missense_variant,p.Gly781Trp,ENST00000397641,;MORC2,missense_variant,p.Gly719Trp,ENST00000215862,NM_014941.1;MORC2,upstream_gene_variant,,ENST00000445980,;MORC2-AS1,downstream_gene_variant,,ENST00000441558,;MORC2,downstream_gene_variant,,ENST00000469915,;							MODERATE	2341/3099	G781W	MORC2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000380763					1	
CLPTM1	0	LGGM	GRCh37	19	45490575	45490575	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	44	3	.	.	ENST00000337392.5:c.932C>A	p.Ser311Ter	p.S311*	ENST00000337392	NM_001294.2	311	tCg/tAg	0	1	1	UPI0000072CBA	0	NA	ENST00000337392		ENSG00000104853	2087		47	0		HGNC	p.S311X		CLPTM1		SNV							ENST00000337392	protein_coding	getma.org/?cm=var&var=hg19,19,45490575,C,A&fts=all		hmmpanther:PTHR21347,hmmpanther:PTHR21347:SF0,Pfam_domain:PF05602		S/*		A	NA	1082/2604		NA		K7EKQ7_HUMAN,B4DDS3_HUMAN			YES	CLPTM1,stop_gained,p.Ser297Ter,ENST00000541297,;CLPTM1,stop_gained,p.Ser311Ter,ENST00000337392,NM_001294.2,NM_001282176.1,NM_001282175.1;CLPTM1,stop_gained,p.Ser209Ter,ENST00000546079,;CLPTM1,upstream_gene_variant,,ENST00000586915,;CLPTM1,downstream_gene_variant,,ENST00000591304,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000589158,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588855,;CLPTM1,non_coding_transcript_exon_variant,,ENST00000588274,;CLPTM1,downstream_gene_variant,,ENST00000587537,;CLPTM1,upstream_gene_variant,,ENST00000586975,;CLPTM1,upstream_gene_variant,,ENST00000589347,;							HIGH	932/2010	S311*	CLPT1_HUMAN			Transcript			.	ENSP00000336994		CCDS12651.1			1	
TMEM2	0	LGGM	GRCh37	9	74324272	74324272	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	28	3	.	.	ENST00000377044.4:c.2888C>A	p.Ala963Asp	p.A963D	ENST00000377044	NM_013390.2	963	gCt/gAt	0	1	1	UPI0000071E8D	0	NA	ENST00000377044		ENSG00000135048	11869		31	1.15		HGNC	p.A900D		TMEM2		SNV							ENST00000377066	protein_coding	getma.org/?cm=var&var=hg19,9,74324272,G,T&fts=all		hmmpanther:PTHR15535,hmmpanther:PTHR15535:SF17		A/D		T	low	3428/6523		getma.org/?cm=msa&ty=f&p=TMEM2_HUMAN&rb=846&re=1045&var=A963D	deleterious(0)	F5H6B2_HUMAN,B4E1B9_HUMAN,B3KNL9_HUMAN			YES	TMEM2,missense_variant,p.Ala963Asp,ENST00000377044,NM_013390.2,NM_001135820.1;TMEM2,missense_variant,p.Ala900Asp,ENST00000377066,;TMEM2,missense_variant,p.Ala64Asp,ENST00000377043,;TMEM2,upstream_gene_variant,,ENST00000396272,;TMEM2,upstream_gene_variant,,ENST00000377055,;TMEM2,3_prime_UTR_variant,,ENST00000542935,;TMEM2,non_coding_transcript_exon_variant,,ENST00000537329,;TMEM2,upstream_gene_variant,,ENST00000474495,;							MODERATE	2888/4152	A963D	TMEM2_HUMAN			Transcript		benign(0.025)	.	ENSP00000366243		CCDS6638.1			1	
TIAM2	0	LGGM	GRCh37	6	155469455	155469455	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	3	.	.	ENST00000461783.3:c.2015C>A	p.Ala672Asp	p.A672D	ENST00000461783		672	gCc/gAc	0	1		UPI00004DF8BE	0	getma.org/pdb.php?prot=TIAM2_HUMAN&from=621&to=820&var=A672D	ENST00000318981		ENSG00000146426	11806		19	1.905		HGNC	p.A672D		TIAM2		SNV							ENST00000528535	protein_coding	getma.org/?cm=var&var=hg19,6,155469455,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		A/D		A	medium	2223/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=621&re=820&var=A672D	deleterious(0)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Ala672Asp,ENST00000461783,;TIAM2,missense_variant,p.Ala672Asp,ENST00000456144,;TIAM2,missense_variant,p.Ala24Asp,ENST00000367174,;TIAM2,missense_variant,p.Ala672Asp,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Ala672Asp,ENST00000360366,;TIAM2,missense_variant,p.Ala672Asp,ENST00000529824,;TIAM2,missense_variant,p.Ala672Asp,ENST00000528535,;TIAM2,upstream_gene_variant,,ENST00000528391,;TIAM2,upstream_gene_variant,,ENST00000456877,;							MODERATE	2015/5106	A672D	TIAM2_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000327315		CCDS34558.1			1	
KRT78	0	LGGM	GRCh37	12	53233118	53233118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	3	.	.	ENST00000304620.4:c.1342G>T	p.Gly448Cys	p.G448C	ENST00000304620	NM_173352.2	448	Ggt/Tgt	0	1	1	UPI00001AEDBE	0	NA	ENST00000304620		ENSG00000170423	28926		19	0.345		HGNC	p.G338C		KRT78		SNV							ENST00000359499	protein_coding	getma.org/?cm=var&var=hg19,12,53233118,C,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF127,Low_complexity_(Seg):seg		G/C		A	neutral	1406/1778		getma.org/?cm=msa&ty=f&p=K2C78_HUMAN&rb=424&re=520&var=G448C	deleterious(0.03)	F8VS93_HUMAN,B4DQ49_HUMAN			YES	KRT78,missense_variant,p.Gly338Cys,ENST00000359499,;KRT78,missense_variant,p.Gly448Cys,ENST00000304620,NM_173352.2;KRT78,missense_variant,p.Gly31Cys,ENST00000547920,;RP11-153F5.3,downstream_gene_variant,,ENST00000550463,;							MODERATE	1342/1563	G448C	K2C78_HUMAN			Transcript		benign(0.017)	.	ENSP00000306261		CCDS8840.1			1	
SIN3A	0	LGGM	GRCh37	15	75704023	75704023	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	40	3	.	.	ENST00000394947.3:c.818C>A	p.Ala273Glu	p.A273E	ENST00000394947	NM_001145358.1	273	gCa/gAa	0	1		UPI000013EAD4	0	NA	ENST00000360439		ENSG00000169375	19353		43	0.895		HGNC	p.A273E		SIN3A		SNV							ENST00000394949	protein_coding	getma.org/?cm=var&var=hg19,15,75704023,G,T&fts=all		hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF2,Low_complexity_(Seg):seg		A/E		T	low	1000/5050		getma.org/?cm=msa&ty=f&p=SIN3A_HUMAN&rb=188&re=321&var=A273E	tolerated(0.36)	H3BT34_HUMAN,H3BQ88_HUMAN,H3BQ76_HUMAN,H3BP90_HUMAN,H3BNZ3_HUMAN,H3BNA0_HUMAN				SIN3A,missense_variant,p.Ala273Glu,ENST00000394947,NM_001145358.1;SIN3A,missense_variant,p.Ala273Glu,ENST00000360439,NM_001145357.1;SIN3A,missense_variant,p.Ala273Glu,ENST00000394949,NM_015477.2;SIN3A,downstream_gene_variant,,ENST00000564778,;SIN3A,downstream_gene_variant,,ENST00000562776,;SIN3A,downstream_gene_variant,,ENST00000568431,;CTD-2562G15.2,upstream_gene_variant,,ENST00000569073,;							MODERATE	818/3822	A273E	SIN3A_HUMAN			Transcript		benign(0.118)	.	ENSP00000353622		CCDS10279.1			1	
ZNF654	0	LGGM	GRCh37	3	88189549	88189549	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	45	3	.	.	ENST00000309495.5:c.1089G>T	p.Leu363=	p.L363=	ENST00000309495	NM_018293.2	363	ctG/ctT	0	1	1	UPI0000DD0307	0		ENST00000309495		ENSG00000175105	25612		48			HGNC	p.L363L		ZNF654		SNV							ENST00000309495	protein_coding			hmmpanther:PTHR15507		L		T		1296/4966							YES	ZNF654,synonymous_variant,p.=,ENST00000309495,NM_018293.2;CGGBP1,intron_variant,,ENST00000462901,;CGGBP1,intron_variant,,ENST00000467332,;RP11-159G9.5,downstream_gene_variant,,ENST00000473136,;RP11-159G9.5,downstream_gene_variant,,ENST00000498458,;							LOW	1089/1746		ZN654_HUMAN			Transcript			.	ENSP00000312141		CCDS46874.1			1	
SNX16	0	LGGM	GRCh37	8	82736126	82736126	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	36	3	.	.	ENST00000396330.2:c.512G>T	p.Trp171Leu	p.W171L	ENST00000396330	NM_022133.3	171	tGg/tTg	0	1		UPI000004D24C	0	getma.org/pdb.php?prot=SNX16_HUMAN&from=108&to=214&var=W171L	ENST00000345957		ENSG00000104497	14980		39	0.44		HGNC	p.W171L		SNX16		SNV							ENST00000345957	protein_coding	getma.org/?cm=var&var=hg19,8,82736126,C,A&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PROSITE_profiles:PS50195,hmmpanther:PTHR22999,hmmpanther:PTHR22999:SF7,SMART_domains:SM00312,Superfamily_domains:SSF64268		W/L		A	neutral	791/1853		getma.org/?cm=msa&ty=f&p=SNX16_HUMAN&rb=108&re=214&var=W171L	tolerated(0.06)	E5RJ81_HUMAN,E5RJ65_HUMAN,E5RHF1_HUMAN,E5RGQ6_HUMAN				SNX16,missense_variant,p.Trp171Leu,ENST00000396330,NM_022133.3;SNX16,missense_variant,p.Trp142Leu,ENST00000353788,NM_152837.2;SNX16,missense_variant,p.Trp171Leu,ENST00000345957,NM_152836.2;SNX16,missense_variant,p.Trp171Leu,ENST00000521810,;SNX16,missense_variant,p.Trp142Leu,ENST00000523757,;SNX16,intron_variant,,ENST00000520618,;SNX16,upstream_gene_variant,,ENST00000519212,;							MODERATE	512/1035	W171L	SNX16_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000322652		CCDS6234.1			1	
PRPF40A	0	LGGM	GRCh37	2	153573904	153573904	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	3	.	.	ENST00000410080.1:c.50G>T	p.Arg17Met	p.R17M	ENST00000410080	NM_017892.3	17	aGg/aTg	0	1	1	UPI00015743D9	0	NA	ENST00000410080		ENSG00000196504	16463		17	0		HGNC	p.R2M		PRPF40A		SNV							ENST00000545856	protein_coding	getma.org/?cm=var&var=hg19,2,153573904,C,A&fts=all		hmmpanther:PTHR11864:SF2,hmmpanther:PTHR11864		R/M		A	neutral	592/8048		getma.org/?cm=msa&ty=f&p=PR40A_HUMAN&rb=1&re=141&var=R2M	deleterious_low_confidence(0.01)	Q4ZG51_HUMAN			YES	PRPF40A,missense_variant,p.Arg17Met,ENST00000410080,NM_017892.3;PRPF40A,missense_variant,p.Arg2Met,ENST00000545856,;PRPF40A,missense_variant,p.Arg23Met,ENST00000448428,;ARL6IP6,upstream_gene_variant,,ENST00000326446,NM_152522.5;PRPF40A,upstream_gene_variant,,ENST00000493468,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000486100,;ARL6IP6,upstream_gene_variant,,ENST00000463690,;ARL6IP6,upstream_gene_variant,,ENST00000495469,;PRPF40A,missense_variant,p.Arg25Met,ENST00000354363,;PRPF40A,non_coding_transcript_exon_variant,,ENST00000450303,;PRPF40A,upstream_gene_variant,,ENST00000489741,;ARL6IP6,upstream_gene_variant,,ENST00000455875,;ARL6IP6,upstream_gene_variant,,ENST00000425034,;							MODERATE	50/2793	R2M	PR40A_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000386458		CCDS46430.1			1	
CCDC40	0	LGGM	GRCh37	17	78013675	78013675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	43	3	.	.	ENST00000397545.4:c.158C>A	p.Pro53His	p.P53H	ENST00000397545	NM_017950.3	53	cCt/cAt	0	1	1	UPI0000201739	0	NA	ENST00000397545		ENSG00000141519	26090		46	0.345		HGNC	p.P53H		CCDC40		SNV			1				ENST00000374876	protein_coding	getma.org/?cm=var&var=hg19,17,78013675,C,A&fts=all				P/H		A	neutral	185/4294		getma.org/?cm=msa&ty=f&p=CCD40_HUMAN&rb=1&re=200&var=P53H	deleterious_low_confidence(0.01)	I3L2X6_HUMAN,I3L292_HUMAN			YES	CCDC40,missense_variant,p.Pro53His,ENST00000397545,NM_017950.3;CCDC40,missense_variant,p.Pro53His,ENST00000374877,NM_001243342.1;CCDC40,missense_variant,p.Pro53His,ENST00000374876,;CCDC40,missense_variant,p.Pro53His,ENST00000269318,;CCDC40,missense_variant,p.Pro23His,ENST00000574099,;CCDC40,missense_variant,p.Pro23His,ENST00000576033,;TBC1D16,upstream_gene_variant,,ENST00000310924,NM_019020.3;CCDC40,non_coding_transcript_exon_variant,,ENST00000572270,;CCDC40,non_coding_transcript_exon_variant,,ENST00000572083,;CCDC40,non_coding_transcript_exon_variant,,ENST00000576241,;CCDC40,upstream_gene_variant,,ENST00000573474,;							MODERATE	158/3429	P53H	CCD40_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000380679		CCDS42395.1			1	
ASB4	0	LGGM	GRCh37	7	95115440	95115440	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	47	3	.	.	ENST00000325885.5:c.157G>T	p.Glu53Ter	p.E53*	ENST00000325885	NM_016116.2	53	Gag/Tag	0	1	1	UPI00001260E8	0	NA	ENST00000325885		ENSG00000005981	16009		50	0		HGNC	p.E53X		ASB4		SNV							ENST00000428113	protein_coding	getma.org/?cm=var&var=hg19,7,95115440,G,T&fts=all		Gene3D:1.25.40.20,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF26,Superfamily_domains:SSF48403		E/*		T	NA	228/3825		NA					YES	ASB4,stop_gained,p.Glu53Ter,ENST00000325885,NM_016116.2;ASB4,stop_gained,p.Glu53Ter,ENST00000428113,NM_145872.2;ASB4,intron_variant,,ENST00000257621,;							HIGH	157/1281	E53*	ASB4_HUMAN			Transcript			.	ENSP00000321388		CCDS5641.1			1	
SSBP2	0	LGGM	GRCh37	5	80742706	80742706	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	39	3	.	.	ENST00000320672.4:c.759C>A	p.Pro253=	p.P253=	ENST00000320672	NM_001256732.1	253	ccC/ccA	0	1	1	UPI000003DBBE	0		ENST00000320672		ENSG00000145687	15831		42			HGNC	p.P167P		SSBP2		SNV							ENST00000504985	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12610,hmmpanther:PTHR12610:SF23,Pfam_domain:PF04503		P		T		970/8780							YES	SSBP2,synonymous_variant,p.=,ENST00000320672,NM_001256732.1,NM_001256733.1,NM_012446.3;SSBP2,synonymous_variant,p.=,ENST00000514493,NM_001256735.1,NM_001256734.1;SSBP2,synonymous_variant,p.=,ENST00000509053,NM_001256736.1;SSBP2,synonymous_variant,p.=,ENST00000505980,;SSBP2,synonymous_variant,p.=,ENST00000515395,;SSBP2,synonymous_variant,p.=,ENST00000504985,;SSBP2,synonymous_variant,p.=,ENST00000512923,;SSBP2,non_coding_transcript_exon_variant,,ENST00000510060,;SSBP2,non_coding_transcript_exon_variant,,ENST00000507655,;SSBP2,non_coding_transcript_exon_variant,,ENST00000509743,;SSBP2,upstream_gene_variant,,ENST00000504136,;							LOW	759/1086		SSBP2_HUMAN			Transcript			.	ENSP00000322977		CCDS4056.1			1	
PPM1D	0	LGGM	GRCh37	17	58678058	58678058	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	3	.	.	ENST00000305921.3:c.283C>A	p.Arg95Ser	p.R95S	ENST00000305921	NM_003620.3	95	Cgt/Agt	0	1	1	UPI0000130FE8	0	getma.org/pdb.php?prot=PPM1D_HUMAN&from=65&to=368&var=R95S	ENST00000305921		ENSG00000170836	9277		19	0.51		HGNC	p.R95S		PPM1D		SNV							ENST00000305921	protein_coding	getma.org/?cm=var&var=hg19,17,58678058,C,A&fts=all		Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF231,Low_complexity_(Seg):seg,SMART_domains:SM00332,Superfamily_domains:SSF81606		R/S		A	neutral	515/2986		getma.org/?cm=msa&ty=f&p=PPM1D_HUMAN&rb=65&re=368&var=R95S	tolerated(0.05)				YES	PPM1D,missense_variant,p.Arg95Ser,ENST00000305921,NM_003620.3;PPM1D,upstream_gene_variant,,ENST00000590418,;PPM1D,missense_variant,p.Arg95Ser,ENST00000392995,;							MODERATE	283/1818	R95S	PPM1D_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000306682		CCDS11625.1			1	
OR1E2	0	LGGM	GRCh37	17	3336439	3336439	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	28	3	.	.	ENST00000248384.1:c.697T>C	p.Ser233Pro	p.S233P	ENST00000248384	NM_003554.1	233	Tcc/Ccc	0	1	1	UPI0000041BBF	0	NA	ENST00000248384		ENSG00000127780	8190		31	3.065		HGNC	p.S233P		OR1E2		SNV							ENST00000248384	protein_coding	getma.org/?cm=var&var=hg19,17,3336439,A,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF137,Superfamily_domains:SSF81321		S/P		G	medium	697/972		getma.org/?cm=msa&ty=f&p=OR1E2_HUMAN&rb=148&re=292&var=S233P	deleterious(0)	Q6IFM7_HUMAN			YES	OR1E2,missense_variant,p.Ser233Pro,ENST00000248384,NM_003554.1;							MODERATE	697/972	S233P	OR1E2_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000248384		CCDS11026.1			1	
SPG11	0	LGGM	GRCh37	15	44865822	44865822	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	32	3	.	.	ENST00000261866.7:c.6128G>T	p.Gly2043Val	p.G2043V	ENST00000261866	NM_025137.3	2043	gGc/gTc	0	1	1	UPI0000456840	0	NA	ENST00000261866		ENSG00000104133	11226		35	2.32		HGNC	p.G2043V		SPG11		SNV			1				ENST00000558319	protein_coding	getma.org/?cm=var&var=hg19,15,44865822,C,A&fts=all		hmmpanther:PTHR13650		G/V		A	medium	6145/7774		getma.org/?cm=msa&ty=f&p=SPTCS_HUMAN&rb=694&re=2441&var=G2043V	deleterious(0)	H0YN96_HUMAN,C4B7M3_HUMAN			YES	SPG11,missense_variant,p.Gly2043Val,ENST00000261866,NM_025137.3;SPG11,missense_variant,p.Gly2043Val,ENST00000427534,;SPG11,missense_variant,p.Gly2043Val,ENST00000558319,;SPG11,intron_variant,,ENST00000535302,NM_001160227.1;SPG11,intron_variant,,ENST00000559511,;SPG11,upstream_gene_variant,,ENST00000558138,;SPG11,upstream_gene_variant,,ENST00000559347,;SPG11,non_coding_transcript_exon_variant,,ENST00000558080,;SPG11,non_coding_transcript_exon_variant,,ENST00000561268,;SPG11,non_coding_transcript_exon_variant,,ENST00000559933,;SPG11,downstream_gene_variant,,ENST00000559822,;							MODERATE	6128/7332	G2043V	SPTCS_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000261866		CCDS10112.1			1	
RQCD1	0	LGGM	GRCh37	2	219458984	219458984	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	11	3	.	.	ENST00000273064.6:c.885C>A	p.Pro295=	p.P295=	ENST00000273064	NM_005444.2	295	ccC/ccA	0	1	1	UPI0000052E10	0		ENST00000273064		ENSG00000144580	10445		14			HGNC	p.P295P		RQCD1		SNV							ENST00000542068	protein_coding			hmmpanther:PTHR12262		P		A		1260/4079				D5MQE1_HUMAN,B4DJE1_HUMAN			YES	RQCD1,synonymous_variant,p.=,ENST00000273064,NM_005444.2;RQCD1,synonymous_variant,p.=,ENST00000542068,;RQCD1,synonymous_variant,p.=,ENST00000509807,NM_001271634.1;RQCD1,3_prime_UTR_variant,,ENST00000418808,;RQCD1,downstream_gene_variant,,ENST00000295701,NM_001271635.1;RNU6-136P,upstream_gene_variant,,ENST00000384663,;RQCD1,downstream_gene_variant,,ENST00000473626,;							LOW	885/900		RCD1_HUMAN			Transcript			.	ENSP00000273064		CCDS33379.1			1	
MKL2	0	LGGM	GRCh37	16	14354978	14354978	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	42	3	.	.	ENST00000318282.5:c.2827G>T	p.Ala943Ser	p.A943S	ENST00000318282		943	Gcc/Tcc	0	1	1	UPI0000225CCB	0	NA	ENST00000318282		ENSG00000186260	29819		45	0.405		HGNC	p.A943S		MKL2		SNV							ENST00000318282	protein_coding	getma.org/?cm=var&var=hg19,16,14354978,G,T&fts=all		hmmpanther:PTHR22793,hmmpanther:PTHR22793:SF5		A/S		T	neutral	2957/8608		getma.org/?cm=msa&ty=f&p=MKL2_HUMAN&rb=824&re=1023&var=A982S	tolerated(0.72)	I3L0U1_HUMAN			YES	MKL2,missense_variant,p.Ala993Ser,ENST00000571589,NM_014048.3;MKL2,missense_variant,p.Ala943Ser,ENST00000318282,;MKL2,missense_variant,p.Ala982Ser,ENST00000341243,;MKL2,missense_variant,p.Ala943Ser,ENST00000574045,;MKL2,missense_variant,p.Ala85Ser,ENST00000571770,;MKL2,non_coding_transcript_exon_variant,,ENST00000572588,;AC040173.1,upstream_gene_variant,,ENST00000546067,;							MODERATE	2827/3150	A982S	MKL2_HUMAN			Transcript		benign(0.197)	.	ENSP00000339086		CCDS32391.1			1	
C3orf20	0	LGGM	GRCh37	3	14745889	14745889	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	32	3	.	.	ENST00000253697.3:c.924C>A	p.Pro308=	p.P308=	ENST00000253697	NM_032137.4	308	ccC/ccA	0	1	1	UPI000013CDE9	0		ENST00000253697		ENSG00000131379	25320		35			HGNC	p.P186P		C3orf20		SNV							ENST00000435614	protein_coding			hmmpanther:PTHR23093,hmmpanther:PTHR23093:SF14		P		A		1376/3326							YES	C3orf20,synonymous_variant,p.=,ENST00000253697,NM_032137.4;C3orf20,synonymous_variant,p.=,ENST00000435614,NM_001184958.1;C3orf20,synonymous_variant,p.=,ENST00000412910,NM_001184957.1;C3orf20,non_coding_transcript_exon_variant,,ENST00000495387,;							LOW	924/2715		CC020_HUMAN			Transcript			.	ENSP00000253697		CCDS33706.1			1	
VCAN	0	LGGM	GRCh37	5	82835050	82835050	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	37	3	.	.	ENST00000265077.3:c.6228G>T	p.Glu2076Asp	p.E2076D	ENST00000265077	NM_004385.4	2076	gaG/gaT	0	1	1	UPI000013178B	0	NA	ENST00000265077		ENSG00000038427	2464		40	0		HGNC	p.E1089D		VCAN		SNV			1				ENST00000343200	protein_coding	getma.org/?cm=var&var=hg19,5,82835050,G,T&fts=all		hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804		E/D		T	neutral	6793/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=2036&re=2110&var=E2076D	tolerated(0.57)				YES	VCAN,missense_variant,p.Glu2076Asp,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Glu1089Asp,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Glu1089Asp,ENST00000513960,;VCAN,intron_variant,,ENST00000342785,NM_001164098.1;VCAN,intron_variant,,ENST00000512590,;VCAN,intron_variant,,ENST00000502527,;VCAN-AS1,intron_variant,,ENST00000512090,;VCAN-AS1,downstream_gene_variant,,ENST00000513899,;VCAN,non_coding_transcript_exon_variant,,ENST00000513016,;VCAN,upstream_gene_variant,,ENST00000507162,;VCAN,downstream_gene_variant,,ENST00000515397,;							MODERATE	6228/10191	E2076D	CSPG2_HUMAN			Transcript		benign(0.002)	.	ENSP00000265077		CCDS4060.1			1	
SYNE1	0	LGGM	GRCh37	6	152671357	152671357	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	33	3	.	.	ENST00000367255.5:c.11847C>A	p.Asp3949Glu	p.D3949E	ENST00000367255	NM_182961.3	3949	gaC/gaA	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		36	1.59		HGNC	p.D3949E		SYNE1		SNV			1				ENST00000367255	protein_coding	getma.org/?cm=var&var=hg19,6,152671357,G,T&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,SMART_domains:SM00150,Superfamily_domains:SSF46966		D/E		T	low	12449/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=3920&re=4119&var=D3949E					YES	SYNE1,missense_variant,p.Asp3949Glu,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Asp3949Glu,ENST00000265368,;SYNE1,missense_variant,p.Asp3873Glu,ENST00000341594,;SYNE1,intron_variant,,ENST00000448038,;SYNE1,intron_variant,,ENST00000423061,NM_033071.3;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;							MODERATE	11847/26394	D3949E	SYNE1_HUMAN			Transcript		benign(0.092)	.	ENSP00000356224		CCDS5236.2			1	
N4BP1	0	LGGM	GRCh37	16	48576865	48576865	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	46	3	.	.	ENST00000262384.3:c.2641C>A	p.His881Asn	p.H881N	ENST00000262384	NM_153029.3	881	Cac/Aac	0	1	1	UPI000013D2A2	0	NA	ENST00000262384		ENSG00000102921	29850		49	1.575		HGNC	p.H881N		N4BP1		SNV							ENST00000262384	protein_coding	getma.org/?cm=var&var=hg19,16,48576865,G,T&fts=all				H/N		T	low	2878/7106		getma.org/?cm=msa&ty=f&p=N4BP1_HUMAN&rb=770&re=896&var=H881N	tolerated(0.23)	I3L3R7_HUMAN			YES	N4BP1,missense_variant,p.His881Asn,ENST00000262384,NM_153029.3;N4BP1,non_coding_transcript_exon_variant,,ENST00000565423,;N4BP1,downstream_gene_variant,,ENST00000565638,;N4BP1,downstream_gene_variant,,ENST00000564124,;N4BP1,downstream_gene_variant,,ENST00000569027,;							MODERATE	2641/2691	H881N	N4BP1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000262384		CCDS45479.1			1	
MEIS3	0	LGGM	GRCh37	19	47912788	47912788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	35	3	.	.	ENST00000561293.1:c.614G>T	p.Arg205Leu	p.R205L	ENST00000561293		205	cGa/cTa	0	1		UPI00004C800D	0	NA	ENST00000558555		ENSG00000105419	29537		38	2.255		HGNC	p.R205L		MEIS3		SNV							ENST00000558555	protein_coding	getma.org/?cm=var&var=hg19,19,47912788,C,A&fts=all		hmmpanther:PTHR11850:SF71,hmmpanther:PTHR11850		R/L		A	medium	802/1715		getma.org/?cm=msa&ty=f&p=ME3L1_HUMAN&rb=1&re=178&var=R104L	deleterious(0.04)					MEIS3,missense_variant,p.Arg188Leu,ENST00000331559,NM_020160.2;MEIS3,missense_variant,p.Arg205Leu,ENST00000561293,;MEIS3,missense_variant,p.Arg293Leu,ENST00000561096,;MEIS3,missense_variant,p.Arg205Leu,ENST00000559524,;MEIS3,missense_variant,p.Arg188Leu,ENST00000441740,NM_001009813.2;MEIS3,missense_variant,p.Arg205Leu,ENST00000558555,;MEIS3,missense_variant,p.Arg80Leu,ENST00000560245,;MEIS3,missense_variant,p.Arg64Leu,ENST00000559338,;MEIS3,upstream_gene_variant,,ENST00000607695,;MEIS3,non_coding_transcript_exon_variant,,ENST00000560253,;MEIS3,non_coding_transcript_exon_variant,,ENST00000561204,;							MODERATE	614/1128	R104L	MEIS3_HUMAN			Transcript		benign(0.049)	.	ENSP00000454073					1	
OR10H2	0	LGGM	GRCh37	19	15839089	15839089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	3	.	.	ENST00000305899.3:c.236C>A	p.Pro79Gln	p.P79Q	ENST00000305899	NM_013939.2	79	cCg/cAg	0	1	1	UPI000004CA3E	0	getma.org/pdb.php?prot=O10H2_HUMAN&from=1&to=138&var=P79Q	ENST00000305899		ENSG00000171942	8173		22	4.545		HGNC	p.P79Q	rs779676994	OR10H2		SNV							ENST00000305899	protein_coding	getma.org/?cm=var&var=hg19,19,15839089,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF85,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Pfam_domain:PF10320,Superfamily_domains:SSF81321,Prints_domain:PR00237		P/Q		A	high	256/1029	1.50E-05	getma.org/?cm=msa&ty=f&p=O10H2_HUMAN&rb=1&re=138&var=P79Q	deleterious(0)				YES	OR10H2,missense_variant,p.Pro79Gln,ENST00000305899,NM_013939.2;							MODERATE	236/948	P79Q	O10H2_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000306095	8.24E-06	CCDS12333.1			1	
TAF1	0	LGGM	GRCh37	X	70643066	70643066	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	3	.	.	ENST00000276072.3:c.4612C>A	p.Gln1538Lys	p.Q1538K	ENST00000276072		1538	Cag/Aag	0	1		UPI00001367DD	0	getma.org/pdb.php?prot=TAF1_HUMAN&from=1509&to=1595&var=Q1517K	ENST00000373790		ENSG00000147133	11535		34	1.005		HGNC	p.Q1517K		TAF1		SNV			1				ENST00000373790	protein_coding	getma.org/?cm=var&var=hg19,X,70643066,C,A&fts=all		Superfamily_domains:SSF47370,PIRSF_domain:PIRSF003047,SMART_domains:SM00297,Pfam_domain:PF00439,Gene3D:1.20.920.10,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0		Q/K		A	low	4600/7629		getma.org/?cm=msa&ty=f&p=TAF1_HUMAN&rb=1509&re=1595&var=Q1517K	deleterious(0.04)					TAF1,missense_variant,p.Gln1517Lys,ENST00000449580,;TAF1,missense_variant,p.Gln1538Lys,ENST00000423759,NM_001286074.1;TAF1,missense_variant,p.Gln1517Lys,ENST00000373790,NM_004606.3,NM_138923.2;TAF1,missense_variant,p.Gln1538Lys,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,upstream_gene_variant,,ENST00000492404,;TAF1,missense_variant,p.Gln172Lys,ENST00000437147,;TAF1,missense_variant,p.Gln172Lys,ENST00000373775,;AL590762.11,upstream_gene_variant,,ENST00000391782,;							MODERATE	4549/5619	Q1517K	TAF1_HUMAN			Transcript		benign(0.001)	.	ENSP00000362895		CCDS35325.1			1	
PARD3	0	LGGM	GRCh37	10	34558599	34558599	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	44	3	.	.	ENST00000374789.3:c.3414C>A	p.Pro1138=	p.P1138=	ENST00000374789	NM_019619.3	1138	ccC/ccA	0	1	1	UPI0000073A9F	0		ENST00000374789		ENSG00000148498	16051		47			HGNC	p.P1078P		PARD3		SNV							ENST00000374790	protein_coding			hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10		P		T		3740/6005							YES	PARD3,synonymous_variant,p.=,ENST00000374789,NM_019619.3;PARD3,synonymous_variant,p.=,ENST00000374788,NM_001184785.1;PARD3,synonymous_variant,p.=,ENST00000545693,NM_001184786.1;PARD3,synonymous_variant,p.=,ENST00000346874,NM_001184787.1;PARD3,synonymous_variant,p.=,ENST00000350537,NM_001184788.1,NM_001184789.1;PARD3,synonymous_variant,p.=,ENST00000374790,;PARD3,synonymous_variant,p.=,ENST00000545260,NM_001184790.1;PARD3,synonymous_variant,p.=,ENST00000374794,NM_001184791.1;PARD3,downstream_gene_variant,,ENST00000466092,;							LOW	3414/4071		PARD3_HUMAN			Transcript			.	ENSP00000363921		CCDS7178.1			1	
TLE3	0	LGGM	GRCh37	15	70348690	70348690	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	28	3	.	.	ENST00000558939.1:c.1284G>T	p.Pro428=	p.P428=	ENST00000558939	NM_001282979.1	428	ccG/ccT	0	1	1	UPI000013703A	0		ENST00000558939		ENSG00000140332	11839		31			HGNC	p.P425P	rs544054629	TLE3		SNV							ENST00000451782	protein_coding			hmmpanther:PTHR10814		P		A		2662/6004				H0YNT2_HUMAN			YES	TLE3,synonymous_variant,p.=,ENST00000558939,NM_001282979.1;TLE3,synonymous_variant,p.=,ENST00000442299,;TLE3,synonymous_variant,p.=,ENST00000317509,NM_005078.2,NM_001105192.1,NM_020908.1;TLE3,synonymous_variant,p.=,ENST00000557997,;TLE3,synonymous_variant,p.=,ENST00000560589,;TLE3,synonymous_variant,p.=,ENST00000559929,;TLE3,synonymous_variant,p.=,ENST00000560939,;TLE3,synonymous_variant,p.=,ENST00000559048,;TLE3,synonymous_variant,p.=,ENST00000558201,;TLE3,synonymous_variant,p.=,ENST00000440567,NM_001282981.1;TLE3,synonymous_variant,p.=,ENST00000539550,;TLE3,synonymous_variant,p.=,ENST00000451782,;TLE3,synonymous_variant,p.=,ENST00000558379,NM_001282980.1;TLE3,synonymous_variant,p.=,ENST00000557907,;TLE3,synonymous_variant,p.=,ENST00000559191,;TLE3,synonymous_variant,p.=,ENST00000557919,;TLE3,synonymous_variant,p.=,ENST00000561453,;TLE3,synonymous_variant,p.=,ENST00000560525,;TLE3,non_coding_transcript_exon_variant,,ENST00000557815,;TLE3,upstream_gene_variant,,ENST00000542329,;TLE3,upstream_gene_variant,,ENST00000559608,;TLE3,downstream_gene_variant,,ENST00000559826,;							LOW	1284/2319		TLE3_HUMAN			Transcript			.	ENSP00000452871		CCDS45293.1			1	
HDAC1	0	LGGM	GRCh37	1	32797714	32797714	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	3	.	.	ENST00000373548.3:c.1243G>T	p.Ala415Ser	p.A415S	ENST00000373548	NM_004964.2	415	Gcc/Tcc	0	1	1	UPI0000035528	0	NA	ENST00000373548		ENSG00000116478	4852		34	1.58		HGNC	p.A415S		HDAC1		SNV							ENST00000373548	protein_coding	getma.org/?cm=var&var=hg19,1,32797714,G,T&fts=all		hmmpanther:PTHR10625:SF113,hmmpanther:PTHR10625,PIRSF_domain:PIRSF037913		A/S		T	low	1327/2124		getma.org/?cm=msa&ty=f&p=HDAC1_HUMAN&rb=321&re=482&var=A415S	tolerated(0.43)	Q6IT96_HUMAN,F5GXM1_HUMAN			YES	HDAC1,missense_variant,p.Ala415Ser,ENST00000373548,NM_004964.2;HDAC1,missense_variant,p.Ala222Ser,ENST00000373541,;MARCKSL1,downstream_gene_variant,,ENST00000329421,NM_023009.6;HDAC1,downstream_gene_variant,,ENST00000428704,;HDAC1,downstream_gene_variant,,ENST00000490081,;HDAC1,downstream_gene_variant,,ENST00000463172,;HDAC1,downstream_gene_variant,,ENST00000482310,;HDAC1,downstream_gene_variant,,ENST00000481281,;HDAC1,downstream_gene_variant,,ENST00000472928,;HDAC1,non_coding_transcript_exon_variant,,ENST00000476391,;HDAC1,non_coding_transcript_exon_variant,,ENST00000471488,;HDAC1,downstream_gene_variant,,ENST00000484305,;							MODERATE	1243/1449	A415S	HDAC1_HUMAN			Transcript		benign(0.046)	.	ENSP00000362649		CCDS360.1			1	
RAPGEF3	0	LGGM	GRCh37	12	48143172	48143172	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	20	4	.	.	ENST00000449771.2:c.1041+1G>T		p.X347_splice	ENST00000449771				0	1		UPI0000406B36	0		ENST00000389212		ENSG00000079337	16629		24			HGNC	-		RAPGEF3		SNV							ENST00000405493	protein_coding							A		-/3294				F8W0N0_HUMAN,F8VXK1_HUMAN,B3KP15_HUMAN				RAPGEF3,splice_donor_variant,,ENST00000405493,NM_001098532.2,NM_006105.5;RAPGEF3,splice_donor_variant,,ENST00000395358,;RAPGEF3,splice_donor_variant,,ENST00000171000,NM_001098531.2;RAPGEF3,splice_donor_variant,,ENST00000449771,;RAPGEF3,splice_donor_variant,,ENST00000389212,;RAPGEF3,splice_donor_variant,,ENST00000549151,;RAPGEF3,splice_donor_variant,,ENST00000548919,;RAPGEF3,downstream_gene_variant,,ENST00000466322,;RAPGEF3,downstream_gene_variant,,ENST00000495953,;SLC48A1,upstream_gene_variant,,ENST00000548498,;RAPGEF3,downstream_gene_variant,,ENST00000549347,;RAPGEF3,splice_donor_variant,,ENST00000482843,;RAPGEF3,splice_donor_variant,,ENST00000547856,;RAPGEF3,splice_donor_variant,,ENST00000495465,;RAPGEF3,non_coding_transcript_exon_variant,,ENST00000479866,;RAPGEF3,upstream_gene_variant,,ENST00000395360,;SLC48A1,upstream_gene_variant,,ENST00000552003,;RAPGEF3,upstream_gene_variant,,ENST00000494764,;							HIGH	1041/2772		RPGF3_HUMAN			Transcript			.	ENSP00000373864		CCDS41775.1			1	
TREML4	0	LGGM	GRCh37	6	41196451	41196451	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	82	4	.	.	ENST00000341495.2:c.64-1G>T		p.X22_splice	ENST00000341495	NM_198153.2			0	1	1	UPI00001D696F	0		ENST00000341495		ENSG00000188056	30807		86			HGNC	-		TREML4		SNV							ENST00000341495	protein_coding							T		-/2070							YES	TREML4,splice_acceptor_variant,,ENST00000341495,NM_198153.2;TREML4,splice_acceptor_variant,,ENST00000448827,;TREML4,upstream_gene_variant,,ENST00000461240,;							HIGH	64/603		TRML4_HUMAN			Transcript			.	ENSP00000342570		CCDS34446.1			1	
PLEKHG4	0	LGGM	GRCh37	16	67316405	67316405	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	4	.	.	ENST00000360461.5:c.1254-1G>T		p.X418_splice	ENST00000360461	NM_001129727.1			0	1	1	UPI000013C774	0		ENST00000360461		ENSG00000196155	24501		20			HGNC	-	rs749332080	PLEKHG4		SNV			1				ENST00000360461	protein_coding							T		-/6782	1.50E-05			H3BSU4_HUMAN,H3BQP9_HUMAN,H3BQE6_HUMAN,H3BPQ5_HUMAN,H3BME5_HUMAN,C5IFI8_HUMAN			YES	PLEKHG4,splice_acceptor_variant,,ENST00000360461,NM_001129727.1,NM_015432.3;PLEKHG4,splice_acceptor_variant,,ENST00000379344,NM_001129729.1;PLEKHG4,splice_acceptor_variant,,ENST00000450733,NM_001129731.1;PLEKHG4,splice_acceptor_variant,,ENST00000427155,NM_001129728.1;PLEKHG4,downstream_gene_variant,,ENST00000562144,;PLEKHG4,downstream_gene_variant,,ENST00000565899,;PLEKHG4,downstream_gene_variant,,ENST00000565773,;PLEKHG4,downstream_gene_variant,,ENST00000568621,;PLEKHG4,downstream_gene_variant,,ENST00000562744,;PLEKHG4,downstream_gene_variant,,ENST00000567938,;PLEKHG4,splice_acceptor_variant,,ENST00000563969,;PLEKHG4,splice_acceptor_variant,,ENST00000393966,;							HIGH	1254/3576		PKHG4_HUMAN			Transcript			.	ENSP00000353646	8.24E-06	CCDS32466.1			1	
PTH2R	0	LGGM	GRCh37	2	209302275	209302275	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	46	4	.	.	ENST00000272847.2:c.192C>A	p.Phe64Leu	p.F64L	ENST00000272847	NM_005048.3	64	ttC/ttA	0	1	1	UPI000005041E	0	getma.org/pdb.php?prot=PTH2R_HUMAN&from=60&to=128&var=F64L	ENST00000272847		ENSG00000144407	9609		50	-1.05		HGNC	p.F64L		PTH2R		SNV							ENST00000272847	protein_coding	getma.org/?cm=var&var=hg19,2,209302275,C,A&fts=all		Superfamily_domains:SSF111418,SMART_domains:SM00008,Pfam_domain:PF02793,PROSITE_patterns:PS00649,hmmpanther:PTHR12011:SF69,hmmpanther:PTHR12011,PROSITE_profiles:PS50227		F/L		A	neutral	405/2713		getma.org/?cm=msa&ty=f&p=PTH2R_HUMAN&rb=60&re=128&var=F64L	tolerated(1)	Q53T35_HUMAN,Q53SF6_HUMAN,B4DFN8_HUMAN			YES	PTH2R,missense_variant,p.Phe64Leu,ENST00000272847,NM_005048.3;PTH2R,non_coding_transcript_exon_variant,,ENST00000413482,;							MODERATE	192/1653	F64L	PTH2R_HUMAN			Transcript		benign(0.006)	.	ENSP00000272847		CCDS2383.1			1	
CENPF	0	LGGM	GRCh37	1	214818754	214818754	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	85	4	.	.	ENST00000366955.3:c.5841C>A	p.Val1947=	p.V1947=	ENST00000366955	NM_016343.3	1947	gtC/gtA	0	1	1	UPI00001AE985	0		ENST00000366955		ENSG00000117724	1857		89			HGNC	p.V1947V		CENPF		SNV							ENST00000366955	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874		V		A		6009/10307							YES	CENPF,synonymous_variant,p.=,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000467765,;							LOW	5841/9345		CENPF_HUMAN			Transcript			.	ENSP00000355922		CCDS31023.1			1	
ZMYND12	0	LGGM	GRCh37	1	42915659	42915659	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	32	4	.	.	ENST00000372565.3:c.182G>T	p.Arg61Leu	p.R61L	ENST00000372565	NM_032257.4	61	cGc/cTc	0	1	1	UPI000020587B	0		ENST00000372565		ENSG00000066185	21192		36			HGNC	p.R61L		ZMYND12		SNV							ENST00000372565	protein_coding			hmmpanther:PTHR12298		R/L		A		452/1775			tolerated(0.06)				YES	ZMYND12,missense_variant,p.Arg61Leu,ENST00000372565,NM_032257.4;ZMYND12,synonymous_variant,p.=,ENST00000433602,NM_001146192.1;ZMYND12,intron_variant,,ENST00000461083,;							MODERATE	182/1098		ZMY12_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000361646		CCDS467.1			1	
HSPG2	0	LGGM	GRCh37	1	22169400	22169400	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	3	4	.	.	ENST00000374695.3:c.8773C>A	p.Gln2925Lys	p.Q2925K	ENST00000374695	NM_005529.5	2925	Cag/Aag	0	1	1	UPI0000212778	0	NA	ENST00000374695		ENSG00000142798	5273		7	1.04		HGNC	p.Q2925K		HSPG2		SNV			1				ENST00000374695	protein_coding	getma.org/?cm=var&var=hg19,1,22169400,G,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Superfamily_domains:SSF48726		Q/K		T	low	8853/14327		getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=2925&re=3009&var=Q2925K		B6EU51_HUMAN			YES	HSPG2,missense_variant,p.Gln2925Lys,ENST00000374695,NM_005529.5;HSPG2,downstream_gene_variant,,ENST00000430507,;HSPG2,downstream_gene_variant,,ENST00000453796,;HSPG2,upstream_gene_variant,,ENST00000374676,;							MODERATE	8773/13176	Q2925K	PGBM_HUMAN			Transcript		benign(0.005)	.	ENSP00000363827		CCDS30625.1			1	
ARAP1	0	LGGM	GRCh37	11	72423532	72423532	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	49	4	.	.	ENST00000393609.3:c.829G>T	p.Asp277Tyr	p.D277Y	ENST00000393609	NM_001040118.2	277	Gac/Tac	0	1	1	UPI000053F81B	0	NA	ENST00000393609		ENSG00000186635	16925		53	0.805		HGNC	p.D277Y		ARAP1		SNV							ENST00000359373	protein_coding	getma.org/?cm=var&var=hg19,11,72423532,C,A&fts=all		Low_complexity_(Seg):seg		D/Y		A	low	1032/5145		getma.org/?cm=msa&ty=f&p=ARAP1_HUMAN&rb=70&re=319&var=D277Y	deleterious(0.03)	F8WBT0_HUMAN,F5GWN4_HUMAN			YES	ARAP1,missense_variant,p.Asp277Tyr,ENST00000359373,;ARAP1,missense_variant,p.Asp277Tyr,ENST00000393609,NM_001040118.2;ARAP1,missense_variant,p.Asp32Tyr,ENST00000334211,NM_015242.4;ARAP1,missense_variant,p.Asp277Tyr,ENST00000455638,;ARAP1,missense_variant,p.Asp37Tyr,ENST00000393605,;ARAP1,missense_variant,p.Asp32Tyr,ENST00000426523,;ARAP1,missense_variant,p.Asp32Tyr,ENST00000429686,NM_001135190.1;ARAP1,upstream_gene_variant,,ENST00000542264,;ARAP1,non_coding_transcript_exon_variant,,ENST00000465814,;RPS12P20,downstream_gene_variant,,ENST00000464109,;							MODERATE	829/4353	D277Y	ARAP1_HUMAN			Transcript		possibly_damaging(0.489)	.	ENSP00000377233		CCDS41687.1			1	
GRIK3	0	LGGM	GRCh37	1	37291277	37291277	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	12	4	.	.	ENST00000373091.3:c.1681C>A	p.Leu561Met	p.L561M	ENST00000373091	NM_000831.3	561	Ctg/Atg	0	1	1	UPI000013E311	0	getma.org/pdb.php?prot=GRIK3_HUMAN&from=510&to=561&var=L561M	ENST00000373091		ENSG00000163873	4581		16	2.53		HGNC	p.L561M		GRIK3		SNV							ENST00000373093	protein_coding	getma.org/?cm=var&var=hg19,1,37291277,G,T&fts=all		SMART_domains:SM00079,Gene3D:3.40.190.10,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966		L/M		T	medium	1698/9101		getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=510&re=561&var=L561M	tolerated(0.06)	Q96SC0_HUMAN			YES	GRIK3,missense_variant,p.Leu561Met,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Leu561Met,ENST00000373093,;							MODERATE	1681/2760	L561M	GRIK3_HUMAN			Transcript		benign(0.345)	.	ENSP00000362183		CCDS416.1			1	
NPR2	0	LGGM	GRCh37	9	35805542	35805542	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	39	4	.	.	ENST00000342694.2:c.1922C>A	p.Ser641Ter	p.S641*	ENST00000342694	NM_003995.3	641	tCg/tAg	0	1	1	UPI0000125B42	0	NA	ENST00000342694		ENSG00000159899	7944		43	0		HGNC	p.S641X		NPR2		SNV			1				ENST00000342694	protein_coding	getma.org/?cm=var&var=hg19,9,35805542,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF231,Low_complexity_(Seg):seg,Superfamily_domains:SSF56112		S/*		A	NA	2177/3686		NA					YES	NPR2,stop_gained,p.Ser641Ter,ENST00000342694,NM_003995.3;NPR2,stop_gained,p.Ser6Ter,ENST00000421267,;SPAG8,downstream_gene_variant,,ENST00000340291,NM_172312.1;SPAG8,downstream_gene_variant,,ENST00000484764,;SPAG8,downstream_gene_variant,,ENST00000396638,NM_001039592.1;SPAG8,downstream_gene_variant,,ENST00000497810,;NPR2,upstream_gene_variant,,ENST00000447210,;SPAG8,downstream_gene_variant,,ENST00000479751,;SPAG8,downstream_gene_variant,,ENST00000463889,;SPAG8,downstream_gene_variant,,ENST00000489063,;NPR2,non_coding_transcript_exon_variant,,ENST00000464810,;SPAG8,downstream_gene_variant,,ENST00000475644,;SPAG8,downstream_gene_variant,,ENST00000472605,;SPAG8,downstream_gene_variant,,ENST00000495667,;SPAG8,downstream_gene_variant,,ENST00000471631,;NPR2,upstream_gene_variant,,ENST00000448821,;SPAG8,downstream_gene_variant,,ENST00000460836,;NPR2,upstream_gene_variant,,ENST00000469249,;							HIGH	1922/3144	S641*	ANPRB_HUMAN			Transcript			.	ENSP00000341083		CCDS6590.1			1	
SLC12A5	0	LGGM	GRCh37	20	44682277	44682277	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	53	4	.	.	ENST00000454036.2:c.2677C>A	p.Gln893Lys	p.Q893K	ENST00000454036	NM_001134771.1	893	Cag/Aag	0	1	1	UPI00015F4605	0	NA	ENST00000454036		ENSG00000124140	13818		57	2.04		HGNC	p.Q893K		SLC12A5		SNV							ENST00000454036	protein_coding	getma.org/?cm=var&var=hg19,20,44682277,C,A&fts=all		hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930		Q/K		A	medium	2726/3566		getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=700&re=899&var=Q893K	tolerated(0.05)	B7Z3I0_HUMAN			YES	SLC12A5,missense_variant,p.Gln870Lys,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Gln893Lys,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000539566,;							MODERATE	2677/3420	Q893K	S12A5_HUMAN			Transcript		benign(0.283)	.	ENSP00000387694		CCDS46610.1			1	
PEX13	0	LGGM	GRCh37	2	61275803	61275803	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	82	4	.	.	ENST00000295030.5:c.1110G>T	p.Leu370Phe	p.L370F	ENST00000295030	NM_002618.3	370	ttG/ttT	0	1	1	UPI0000131707	0	NA	ENST00000295030		ENSG00000162928	8855		86	0.895		HGNC	p.L370F		PEX13		SNV			1				ENST00000295030	protein_coding	getma.org/?cm=var&var=hg19,2,61275803,G,T&fts=all		hmmpanther:PTHR19332		L/F		T	low	1148/4470		getma.org/?cm=msa&ty=f&p=PEX13_HUMAN&rb=329&re=403&var=L370F	deleterious(0.03)				YES	PEX13,missense_variant,p.Leu370Phe,ENST00000295030,NM_002618.3;							MODERATE	1110/1212	L370F	PEX13_HUMAN			Transcript		possibly_damaging(0.851)	.	ENSP00000295030		CCDS1866.1			1	
FAT4	0	LGGM	GRCh37	4	126408675	126408675	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	43	4	.	.	ENST00000394329.3:c.12992C>A	p.Pro4331His	p.P4331H	ENST00000394329	NM_024582.4	4331	cCt/cAt	0	1	1	UPI000155D6E3	0	getma.org/pdb.php?prot=FAT4_HUMAN&from=4250&to=4374&var=P4331H	ENST00000394329		ENSG00000196159	23109		47	0.97		HGNC	p.P4331H		FAT4		SNV			1				ENST00000394329	protein_coding	getma.org/?cm=var&var=hg19,4,126408675,C,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899		P/H		A	low	13005/16123		getma.org/?cm=msa&ty=f&p=FAT4_HUMAN&rb=4250&re=4374&var=P4331H		B3KRB4_HUMAN			YES	FAT4,missense_variant,p.Pro4331His,ENST00000394329,NM_024582.4;FAT4,missense_variant,p.Pro2572His,ENST00000335110,;							MODERATE	12992/14946	P4331H	FAT4_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000377862		CCDS3732.3			1	
USP47	0	LGGM	GRCh37	11	11971458	11971458	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	82	4	.	.	ENST00000339865.5:c.3167C>A	p.Ala1056Asp	p.A1056D	ENST00000339865	NM_017944.3	1056	gCt/gAt	0	1		UPI0001E88E94	0	NA	ENST00000399455		ENSG00000170242	20076		86	0.69		HGNC	p.A1124D		USP47		SNV							ENST00000527733	protein_coding	getma.org/?cm=var&var=hg19,11,11971458,C,A&fts=all				A/D		A	neutral	3551/7396		getma.org/?cm=msa&ty=f&p=UBP47_HUMAN&rb=1048&re=1373&var=A1144D	tolerated(0.1)					USP47,missense_variant,p.Ala1056Asp,ENST00000339865,NM_017944.3;USP47,missense_variant,p.Ala1144Asp,ENST00000399455,;USP47,missense_variant,p.Ala1124Asp,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,,ENST00000530369,;USP47,upstream_gene_variant,,ENST00000529813,;USP47,downstream_gene_variant,,ENST00000531513,;							MODERATE	3431/4128	A1144D	UBP47_HUMAN			Transcript		benign(0.147)	.	ENSP00000382382					1	
BTRC	0	LGGM	GRCh37	10	103190140	103190140	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	76	4	.	.	ENST00000370187.3:c.87C>A	p.Ser29Arg	p.S29R	ENST00000370187	NM_033637.3	29	agC/agA	0	1	1	UPI00000012B5	0	NA	ENST00000370187		ENSG00000166167	1144		80	0		HGNC	p.S29R		BTRC		SNV			1				ENST00000370187	protein_coding	getma.org/?cm=var&var=hg19,10,103190140,C,A&fts=all				S/R		A	neutral	205/6134		getma.org/?cm=msa&ty=f&p=FBW1A_HUMAN&rb=15&re=112&var=S29R	deleterious_low_confidence(0.01)	Q5T1W7_HUMAN			YES	BTRC,missense_variant,p.Ser29Arg,ENST00000370187,NM_033637.3;BTRC,missense_variant,p.Ser14Arg,ENST00000393441,NM_001256856.1;BTRC,missense_variant,p.Ser11Arg,ENST00000370183,;BTRC,intron_variant,,ENST00000408038,NM_003939.4;BTRC,non_coding_transcript_exon_variant,,ENST00000475200,;BTRC,intron_variant,,ENST00000465182,;							MODERATE	87/1818	S29R	FBW1A_HUMAN			Transcript		benign(0.004)	.	ENSP00000359206		CCDS7512.1			1	
KANK4	0	LGGM	GRCh37	1	62739941	62739941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	11	4	.	.	ENST00000371153.4:c.835C>A	p.Pro279Thr	p.P279T	ENST00000371153	NM_181712.4	279	Cct/Act	0	1	1	UPI000022AE73	0	NA	ENST00000371153		ENSG00000132854	27263		15	1.78		HGNC	p.P279T		KANK4		SNV							ENST00000371153	protein_coding	getma.org/?cm=var&var=hg19,1,62739941,G,T&fts=all		hmmpanther:PTHR24168,hmmpanther:PTHR24168:SF20		P/T		T	low	1214/4665		getma.org/?cm=msa&ty=f&p=KANK4_HUMAN&rb=80&re=637&var=P279T	tolerated(0.22)	B1ALP6_HUMAN,B1ALP5_HUMAN			YES	KANK4,missense_variant,p.Pro279Thr,ENST00000371153,NM_181712.4;KANK4,intron_variant,,ENST00000354381,;KANK4,upstream_gene_variant,,ENST00000371150,;							MODERATE	835/2988	P279T	KANK4_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000360195		CCDS620.1			1	
ZPBP	0	LGGM	GRCh37	7	49977191	49977191	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	68	4	.	.	ENST00000046087.2:c.989C>A	p.Pro330His	p.P330H	ENST00000046087	NM_007009.2	330	cCc/cAc	0	1	1	UPI0000073BD0	0	NA	ENST00000046087		ENSG00000042813	15662		72	2.39		HGNC	p.P330H		ZPBP		SNV							ENST00000046087	protein_coding	getma.org/?cm=var&var=hg19,7,49977191,G,T&fts=all		Pfam_domain:PF07354,hmmpanther:PTHR15443,hmmpanther:PTHR15443:SF5		P/H		T	medium	1059/1213		getma.org/?cm=msa&ty=f&p=ZPBP1_HUMAN&rb=86&re=351&var=P330H	deleterious(0)				YES	ZPBP,missense_variant,p.Pro330His,ENST00000046087,NM_007009.2,NM_001159878.1;ZPBP,missense_variant,p.Pro329His,ENST00000419417,;ZPBP,intron_variant,,ENST00000491129,;ZPBP,upstream_gene_variant,,ENST00000465922,;AC096568.3,downstream_gene_variant,,ENST00000451274,;							MODERATE	989/1056	P330H	ZPBP1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000046087		CCDS5509.1			1	
TTC28	0	LGGM	GRCh37	22	28702623	28702623	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	15	4	.	.	ENST00000397906.2:c.390C>A	p.Phe130Leu	p.F130L	ENST00000397906	NM_001145418.1	130	ttC/ttA	0	1	1	UPI00003E58F8	0	NA	ENST00000397906		ENSG00000100154	29179		19	1.845		HGNC	p.F130L		TTC28		SNV							ENST00000397906	protein_coding	getma.org/?cm=var&var=hg19,22,28702623,G,T&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF07719,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,SMART_domains:SM00028,Superfamily_domains:SSF48452		F/L		T	low	532/11793		getma.org/?cm=msa&ty=f&p=TTC28_HUMAN&rb=126&re=159&var=F130L	tolerated(0.11)				YES	TTC28,missense_variant,p.Phe130Leu,ENST00000397906,NM_001145418.1;Y_RNA,downstream_gene_variant,,ENST00000362927,;TTC28,non_coding_transcript_exon_variant,,ENST00000490475,;							MODERATE	390/7446	F130L	TTC28_HUMAN			Transcript		benign(0.216)	.	ENSP00000381003		CCDS46678.1			1	
LTBP1	0	LGGM	GRCh37	2	33505220	33505220	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	40	4	.	.	ENST00000404816.2:c.3107G>A	p.Cys1036Tyr	p.C1036Y	ENST00000404816		1036	tGc/tAc	0	1	1	UPI000173A4A4	0	NA	ENST00000404816		ENSG00000049323	6714		44	3.96		HGNC	p.C711Y		LTBP1		SNV							ENST00000390003	protein_coding	getma.org/?cm=var&var=hg19,2,33505220,G,A&fts=all		hmmpanther:PTHR24034:SF39,hmmpanther:PTHR24034,Gene3D:2.10.25.10,SMART_domains:SM00181,SMART_domains:SM00179,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184		C/Y		A	high	3460/6333		getma.org/?cm=msa&ty=f&p=LTBP1_HUMAN&rb=998&re=1036&var=C1036Y	deleterious(0)	H7C2H7_HUMAN			YES	LTBP1,missense_variant,p.Cys1036Tyr,ENST00000404816,;LTBP1,missense_variant,p.Cys1037Tyr,ENST00000354476,NM_206943.2;LTBP1,missense_variant,p.Cys711Tyr,ENST00000390003,NM_000627.3;LTBP1,missense_variant,p.Cys710Tyr,ENST00000418533,NM_001166266.1,NM_001166264.1;LTBP1,missense_variant,p.Cys657Tyr,ENST00000404525,NM_001166265.1;LTBP1,missense_variant,p.Cys710Tyr,ENST00000407925,;LTBP1,missense_variant,p.Cys657Tyr,ENST00000402934,;LTBP1,missense_variant,p.Cys44Tyr,ENST00000415140,;							MODERATE	3107/5166	C1036Y	LTBP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000386043		CCDS33177.2			1	
MGAT4A	0	LGGM	GRCh37	2	99261922	99261922	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	86	4	.	.	ENST00000264968.3:c.858G>T	p.Met286Ile	p.M286I	ENST00000264968		286	atG/atT	0	1	1	UPI000003F051	0	NA	ENST00000264968		ENSG00000071073	7047		90	1.36		HGNC	p.M286I		MGAT4A		SNV							ENST00000264968	protein_coding	getma.org/?cm=var&var=hg19,2,99261922,C,A&fts=all		hmmpanther:PTHR12062:SF4,hmmpanther:PTHR12062,Pfam_domain:PF04666		M/I		A	low	1222/8432		getma.org/?cm=msa&ty=f&p=MGT4A_HUMAN&rb=74&re=380&var=M286I	tolerated(0.15)				YES	MGAT4A,missense_variant,p.Met286Ile,ENST00000264968,;MGAT4A,missense_variant,p.Met286Ile,ENST00000393487,NM_012214.2;MGAT4A,missense_variant,p.Met158Ile,ENST00000414521,NM_001160154.1;MGAT4A,missense_variant,p.Met286Ile,ENST00000409391,;MGAT4A,non_coding_transcript_exon_variant,,ENST00000492163,;							MODERATE	858/1608	M286I	MGT4A_HUMAN			Transcript		benign(0.01)	.	ENSP00000264968		CCDS2036.1			1	
AURKA	0	LGGM	GRCh37	20	54958040	54958040	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	36	5	.	.	ENST00000312783.6:c.566+1G>T		p.X189_splice	ENST00000312783	NM_198436.1			0	1		UPI000013C70F	0		ENST00000312783		ENSG00000087586	11393		41			HGNC	-		AURKA		SNV							ENST00000395914	protein_coding							A		-/2223				Q5QPD4_HUMAN,Q5QPD2_HUMAN,Q5QPD1_HUMAN,A3KFJ2_HUMAN,A3KFJ1_HUMAN				AURKA,splice_donor_variant,,ENST00000395909,NM_198433.1;AURKA,splice_donor_variant,,ENST00000347343,NM_003600.2;AURKA,splice_donor_variant,,ENST00000395914,NM_198434.1;AURKA,splice_donor_variant,,ENST00000312783,NM_198436.1;AURKA,splice_donor_variant,,ENST00000395913,;AURKA,splice_donor_variant,,ENST00000395911,;AURKA,splice_donor_variant,,ENST00000395915,NM_198437.1,NM_198435.1;AURKA,splice_donor_variant,,ENST00000371356,;AURKA,splice_donor_variant,,ENST00000395907,;AURKA,splice_donor_variant,,ENST00000441357,;AURKA,downstream_gene_variant,,ENST00000420474,;AURKA,downstream_gene_variant,,ENST00000456249,;AURKA,downstream_gene_variant,,ENST00000422322,;AURKA,downstream_gene_variant,,ENST00000451915,;							HIGH	566/1212		AURKA_HUMAN			Transcript			.	ENSP00000321591		CCDS13451.1			1	
PPFIA3	0	LGGM	GRCh37	19	49643224	49643224	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	43	5	.	.	ENST00000334186.4:c.2247C>A	p.Gly749=	p.G749=	ENST00000334186	NM_003660.3	749	ggC/ggA	0	1	1	UPI00001AE464	0		ENST00000334186		ENSG00000177380	9247		48			HGNC	p.G749G		PPFIA3		SNV							ENST00000334186	protein_coding			hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF4		G		A		2596/4733				R4GNF1_HUMAN			YES	PPFIA3,synonymous_variant,p.=,ENST00000334186,NM_003660.3;PPFIA3,synonymous_variant,p.=,ENST00000602351,;PPFIA3,upstream_gene_variant,,ENST00000602848,;PPFIA3,3_prime_UTR_variant,,ENST00000602655,;PPFIA3,non_coding_transcript_exon_variant,,ENST00000421230,;PPFIA3,downstream_gene_variant,,ENST00000602716,;							LOW	2247/3585		LIPA3_HUMAN			Transcript			.	ENSP00000335614		CCDS12758.1			1	
FAM20B	0	LGGM	GRCh37	1	179013256	179013256	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	39	5	.	.	ENST00000263733.4:c.274G>A	p.Ala92Thr	p.A92T	ENST00000263733	NM_014864.3	92	Gcc/Acc	0	1	1	UPI000000DB7F	0	NA	ENST00000263733		ENSG00000116199	23017		44	1.03		HGNC	p.A92T	COSM1336626	FAM20B		SNV						1	ENST00000440702	protein_coding	getma.org/?cm=var&var=hg19,1,179013256,G,A&fts=all		hmmpanther:PTHR12450		A/T		A	low	610/5984		getma.org/?cm=msa&ty=f&p=XYLK_HUMAN&rb=1&re=186&var=A92T	tolerated(0.31)				YES	FAM20B,missense_variant,p.Ala92Thr,ENST00000263733,NM_014864.3;FAM20B,missense_variant,p.Ala92Thr,ENST00000440702,;					1		MODERATE	274/1230	A92T	XYLK_HUMAN			Transcript		benign(0.002)	.	ENSP00000263733		CCDS1328.1			1	
NFKB1	0	LGGM	GRCh37	4	103527806	103527806	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	26	5	.	.	ENST00000226574.4:c.1906C>T	p.Leu636Phe	p.L636F	ENST00000226574	NM_003998.3	636	Ctc/Ttc	0	1		UPI000000D917	0	NA	ENST00000394820		ENSG00000109320	7794		31	3.245		HGNC	p.L636F		NFKB1		SNV							ENST00000226574	protein_coding	getma.org/?cm=var&var=hg19,4,103527806,C,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF9,Low_complexity_(Seg):seg,SMART_domains:SM00248,Superfamily_domains:SSF48403		L/F		T	medium	2368/3693		getma.org/?cm=msa&ty=f&p=NFKB1_HUMAN&rb=614&re=643&var=L635F	deleterious(0)	D6RF93_HUMAN				NFKB1,missense_variant,p.Leu636Phe,ENST00000226574,NM_003998.3,NM_001165412.1;NFKB1,missense_variant,p.Leu455Phe,ENST00000600343,;NFKB1,missense_variant,p.Leu635Phe,ENST00000505458,;NFKB1,missense_variant,p.Leu635Phe,ENST00000394820,;							MODERATE	1903/2907	L635F	NFKB1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378297		CCDS54783.1			1	
AUTS2	0	LGGM	GRCh37	7	70255952	70255952	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	3	5	.	.	ENST00000342771.4:c.3750C>G	p.Ser1250=	p.S1250=	ENST00000342771	NM_015570.2	1250	tcC/tcG	0	1	1	UPI0000126665	0		ENST00000342771		ENSG00000158321	14262		8			HGNC	p.S1250S		AUTS2		SNV			1				ENST00000342771	protein_coding			hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5		S		G		4071/6173				Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN			YES	AUTS2,synonymous_variant,p.=,ENST00000342771,NM_015570.2;AUTS2,synonymous_variant,p.=,ENST00000406775,NM_001127231.1;AUTS2,downstream_gene_variant,,ENST00000418686,;AUTS2,downstream_gene_variant,,ENST00000498384,;AUTS2,downstream_gene_variant,,ENST00000449547,;AUTS2,downstream_gene_variant,,ENST00000439256,;							LOW	3750/3780		AUTS2_HUMAN			Transcript			.	ENSP00000344087		CCDS5539.1			1	
SLC4A9	0	LGGM	GRCh37	5	139740514	139740514	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	4	5	.	.	ENST00000230993.6:c.420T>C	p.Leu140=	p.L140=	ENST00000230993	NM_001258428.1	140	ctT/ctC	0	1		UPI000018336F	0		ENST00000507527		ENSG00000113073	11035		9			HGNC	p.L116L		SLC4A9		SNV							ENST00000506545	protein_coding			hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF33,Pfam_domain:PF07565,Gene3D:1hynR00,Superfamily_domains:SSF55804		L		C		442/3258								SLC4A9,synonymous_variant,p.=,ENST00000230993,NM_001258428.1;SLC4A9,synonymous_variant,p.=,ENST00000506757,NM_031467.2,NM_001258426.1;SLC4A9,synonymous_variant,p.=,ENST00000507527,;SLC4A9,synonymous_variant,p.=,ENST00000432095,;SLC4A9,synonymous_variant,p.=,ENST00000506545,NM_001258427.1;CTC-329D1.3,upstream_gene_variant,,ENST00000520443,;SLC4A9,upstream_gene_variant,,ENST00000514849,;							LOW	420/2952		B3A4_HUMAN			Transcript			.	ENSP00000427661		CCDS58973.1			1	
JAK2	0	LGGM	GRCh37	9	5065016	5065016	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	6	.	.	ENST00000381652.3:c.1190A>T	p.Gln397Leu	p.Q397L	ENST00000381652	NM_004972.3	397	cAa/cTa	0	1	1	UPI000012DA9E	0	NA	ENST00000381652		ENSG00000096968	6192		25	2.005		HGNC	p.Q397L		JAK2		SNV			1				ENST00000381652	protein_coding	getma.org/?cm=var&var=hg19,9,5065016,A,T&fts=all		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF179,PIRSF_domain:PIRSF000636,SMART_domains:SM00252,Superfamily_domains:SSF55550		Q/L		T	medium	1684/5285		getma.org/?cm=msa&ty=f&p=JAK2_HUMAN&rb=201&re=399&var=Q397L	tolerated(0.06)	Q8IXP2_HUMAN,F5H5U8_HUMAN			YES	JAK2,missense_variant,p.Gln397Leu,ENST00000381652,NM_004972.3;JAK2,missense_variant,p.Gln397Leu,ENST00000539801,;JAK2,missense_variant,p.Gln248Leu,ENST00000544510,;							MODERATE	1190/3399	Q397L	JAK2_HUMAN			Transcript		benign(0.031)	.	ENSP00000371067		CCDS6457.1			1	
MSH6	0	LGGM	GRCh37	2	48026371	48026371	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	26	6	.	.	ENST00000234420.5:c.1249A>G	p.Lys417Glu	p.K417E	ENST00000234420	NM_000179.2	417	Aag/Gag	0	1	1	UPI00000405F8	0	getma.org/pdb.php?prot=MSH6_HUMAN&from=407&to=526&var=K417E	ENST00000234420		ENSG00000116062	7329		32	4.15		HGNC	p.K417E		MSH6		SNV			1				ENST00000234420	protein_coding	getma.org/?cm=var&var=hg19,2,48026371,A,G&fts=all		hmmpanther:PTHR11361:SF31,hmmpanther:PTHR11361,Gene3D:1ewqB01,Pfam_domain:PF01624,PIRSF_domain:PIRSF037677,Superfamily_domains:SSF55271		K/E		G	high	1401/7476		getma.org/?cm=msa&ty=f&p=MSH6_HUMAN&rb=407&re=526&var=K417E	deleterious(0)	U3KQ72_HUMAN,F5H2F9_HUMAN,C9JH55_HUMAN,C9J8Y8_HUMAN,C9J7Y7_HUMAN			YES	MSH6,missense_variant,p.Lys417Glu,ENST00000234420,NM_000179.2;MSH6,missense_variant,p.Lys115Glu,ENST00000538136,NM_001281494.1;MSH6,missense_variant,p.Lys287Glu,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,;							MODERATE	1249/4083	K417E	MSH6_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000234420		CCDS1836.1			1	
GRHL2	0	LGGM	GRCh37	8	102589717	102589717	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	7	.	.	ENST00000251808.3:c.973C>T	p.His325Tyr	p.H325Y	ENST00000251808	NM_024915.3	325	Cat/Tat	0	1	1	UPI000013CD16	0	NA	ENST00000251808		ENSG00000083307	2799		21	2.63		HGNC	p.H325Y		GRHL2		SNV			1				ENST00000251808	protein_coding	getma.org/?cm=var&var=hg19,8,102589717,C,T&fts=all		Pfam_domain:PF04516,hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF17		H/Y		T	medium	1311/5239		getma.org/?cm=msa&ty=f&p=GRHL2_HUMAN&rb=209&re=440&var=H325Y	deleterious(0.03)				YES	GRHL2,missense_variant,p.His325Tyr,ENST00000251808,NM_024915.3;GRHL2,missense_variant,p.His309Tyr,ENST00000395927,;							MODERATE	973/1878	H325Y	GRHL2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000251808		CCDS34931.1			1	
GRHL2	0	LGGM	GRCh37	8	102589716	102589716	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	7	.	.	ENST00000251808.3:c.972G>T	p.Gln324His	p.Q324H	ENST00000251808	NM_024915.3	324	caG/caT	0	1	1	UPI000013CD16	0	NA	ENST00000251808		ENSG00000083307	2799		21	2.485		HGNC	p.Q324H		GRHL2		SNV			1				ENST00000251808	protein_coding	getma.org/?cm=var&var=hg19,8,102589716,G,T&fts=all		Pfam_domain:PF04516,hmmpanther:PTHR11037,hmmpanther:PTHR11037:SF17		Q/H		T	medium	1310/5239		getma.org/?cm=msa&ty=f&p=GRHL2_HUMAN&rb=209&re=440&var=Q324H	deleterious(0)				YES	GRHL2,missense_variant,p.Gln324His,ENST00000251808,NM_024915.3;GRHL2,missense_variant,p.Gln308His,ENST00000395927,;							MODERATE	972/1878	Q324H	GRHL2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000251808		CCDS34931.1			1	
SYNE3	0	LGGM	GRCh37	14	95909499	95909499	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	2	7	.	.	ENST00000334258.5:c.1904C>T	p.Ser635Phe	p.S635F	ENST00000334258	NM_152592.3	635	tCt/tTt	0	1	1	UPI0000246F54	0	NA	ENST00000334258		ENSG00000176438	19861		9	0.695		HGNC	p.S392F	rs372244319	SYNE3	0.000123	SNV	A:0.0002						ENST00000554873	protein_coding	getma.org/?cm=var&var=hg19,14,95909499,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF46966,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF245		S/F	A:0	A	neutral	1919/3275		getma.org/?cm=msa&ty=f&p=SYNE3_HUMAN&rb=601&re=647&var=S635F	deleterious(0.02)				YES	SYNE3,missense_variant,p.Ser635Phe,ENST00000334258,NM_152592.3;SYNE3,missense_variant,p.Ser635Phe,ENST00000557275,;SYNE3,missense_variant,p.Ser392Phe,ENST00000554873,;SYNE3,downstream_gene_variant,,ENST00000553340,;SYNE3,non_coding_transcript_exon_variant,,ENST00000555759,;							MODERATE	1904/2928	S635F	SYNE3_HUMAN			Transcript		benign(0.043)	.	ENSP00000334308	1.65E-05	CCDS9935.1			1	
SYTL3	0	LGGM	GRCh37	6	159185552	159185552	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	18	7	.	.	ENST00000297239.9:c.1749T>A	p.Asp583Glu	p.D583E	ENST00000297239		583	gaT/gaA	0	1	1	UPI000015FE68	0	NA	ENST00000297239		ENSG00000164674	15587		25	0.975		HGNC	p.D309E		SYTL3		SNV							ENST00000367081	protein_coding	getma.org/?cm=var&var=hg19,6,159185552,T,A&fts=all		hmmpanther:PTHR10024:SF177,hmmpanther:PTHR10024,SMART_domains:SM00239		D/E		A	low	1943/2292		getma.org/?cm=msa&ty=f&p=SYTL3_HUMAN&rb=572&re=610&var=D583E	tolerated(0.09)				YES	SYTL3,missense_variant,p.Asp583Glu,ENST00000297239,;SYTL3,missense_variant,p.Asp515Glu,ENST00000360448,NM_001242394.1,NM_001242384.1,NM_001009991.3,NM_001242395.1;SYTL3,missense_variant,p.Asp309Glu,ENST00000367081,;EZR,downstream_gene_variant,,ENST00000367075,NM_001111077.1;EZR,downstream_gene_variant,,ENST00000337147,NM_003379.4;EZR,downstream_gene_variant,,ENST00000392177,;MIR3918,downstream_gene_variant,,ENST00000581555,;							MODERATE	1749/1833	D583E	SYTL3_HUMAN			Transcript		benign(0.057)	.	ENSP00000297239		CCDS56458.1			1	
TG	0	LGGM	GRCh37	8	133900280	133900280	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	7	.	.	ENST00000220616.4:c.2228A>T	p.Gln743Leu	p.Q743L	ENST00000220616	NM_003235.4	743	cAg/cTg	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		21	1.445		HGNC	p.Q743L		TG		SNV			1				ENST00000220616	protein_coding	getma.org/?cm=var&var=hg19,8,133900280,A,T&fts=all		PIRSF_domain:PIRSF001831,PROSITE_profiles:PS51162,Superfamily_domains:SSF57610		Q/L		T	low	2268/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=727&re=921&var=Q743L	deleterious(0.04)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Gln743Leu,ENST00000220616,NM_003235.4;TG,missense_variant,p.Gln743Leu,ENST00000377869,;TG,downstream_gene_variant,,ENST00000520769,;							MODERATE	2228/8307	Q743L	THYG_HUMAN			Transcript		benign(0.055)	.	ENSP00000220616		CCDS34944.1			1	
EHD4	0	LGGM	GRCh37	15	42193280	42193280	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	8	7	.	.	ENST00000220325.4:c.1189A>G	p.Met397Val	p.M397V	ENST00000220325	NM_139265.3	397	Atg/Gtg	0	1	1	UPI0000129E25	0	getma.org/pdb.php?prot=EHD4_HUMAN&from=225&to=424&var=M397V	ENST00000220325		ENSG00000103966	3245		15	2.425		HGNC	p.M397V		EHD4		SNV							ENST00000220325	protein_coding	getma.org/?cm=var&var=hg19,15,42193280,T,C&fts=all		hmmpanther:PTHR11216:SF57,hmmpanther:PTHR11216		M/V		C	medium	1273/3603		getma.org/?cm=msa&ty=f&p=EHD4_HUMAN&rb=225&re=424&var=M397V	tolerated(0.07)				YES	EHD4,missense_variant,p.Met397Val,ENST00000220325,NM_139265.3;RP11-23P13.7,upstream_gene_variant,,ENST00000605942,;RP11-23P13.6,downstream_gene_variant,,ENST00000564432,;							MODERATE	1189/1626	M397V	EHD4_HUMAN			Transcript		benign(0.024)	.	ENSP00000220325		CCDS10081.1			1	
AK8	0	LGGM	GRCh37	9	135698625	135698625	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	38	8	.	.	ENST00000298545.3:c.856G>T	p.Ala286Ser	p.A286S	ENST00000298545	NM_152572.2	286	Gcc/Tcc	0	1	1	UPI0000071236	0	getma.org/pdb.php?prot=KAD8_HUMAN&from=273&to=451&var=A286S	ENST00000298545		ENSG00000165695	26526		46	1		HGNC	p.A286S		AK8		SNV							ENST00000298545	protein_coding	getma.org/?cm=var&var=hg19,9,135698625,C,A&fts=all		Gene3D:3.40.50.300,HAMAP:MF_00235,Pfam_domain:PF00406,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF64,Superfamily_domains:SSF52540		A/S		A	low	1378/2072		getma.org/?cm=msa&ty=f&p=KAD8_HUMAN&rb=273&re=451&var=A286S	tolerated(0.31)				YES	AK8,missense_variant,p.Ala286Ser,ENST00000298545,NM_152572.2;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;							MODERATE	856/1440	A286S	KAD8_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000298545		CCDS6954.1			1	
MYO10	0	LGGM	GRCh37	5	16762218	16762218	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	8	.	.	ENST00000513610.1:c.1592A>G	p.Asn531Ser	p.N531S	ENST00000513610	NM_012334.2	531	aAc/aGc	0	1	1	UPI0001597062	0	getma.org/pdb.php?prot=MYO10_HUMAN&from=65&to=727&var=N531S	ENST00000513610		ENSG00000145555	7593		22	1.245		HGNC	p.N542S		MYO10		SNV							ENST00000513882	protein_coding	getma.org/?cm=var&var=hg19,5,16762218,T,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF276,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		N/S		C	low	2047/8038		getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=65&re=727&var=N531S	tolerated(0.12)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Asn531Ser,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Asn542Ser,ENST00000513882,;MYO10,upstream_gene_variant,,ENST00000510401,;							MODERATE	1592/6177	N531S	MYO10_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000421280		CCDS54834.1			1	
UNC80	0	LGGM	GRCh37	2	210782582	210782582	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	25	9	.	.	ENST00000439458.1:c.4913C>G	p.Thr1638Ser	p.T1638S	ENST00000439458	NM_032504.1	1638	aCt/aGt	0	1	1	UPI00017E10C9	0	NA	ENST00000439458		ENSG00000144406	26582		34	0.345		HGNC	p.T1638S		UNC80		SNV							ENST00000439458	protein_coding	getma.org/?cm=var&var=hg19,2,210782582,C,G&fts=all		hmmpanther:PTHR31781,hmmpanther:PTHR31781:SF1		T/S		G	neutral	4993/13562		getma.org/?cm=msa&ty=f&p=UNC80_HUMAN&rb=1171&re=2869&var=T1638S					YES	UNC80,missense_variant,p.Thr1638Ser,ENST00000439458,NM_032504.1;UNC80,missense_variant,p.Thr1633Ser,ENST00000272845,NM_182587.3;UNC80,non_coding_transcript_exon_variant,,ENST00000489023,;							MODERATE	4913/9777	T1638S	UNC80_HUMAN			Transcript		benign(0.033)	.	ENSP00000391088		CCDS46504.1			1	
HVCN1	0	LGGM	GRCh37	12	111099021	111099021	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	22	9	.	.	ENST00000356742.5:c.254C>A	p.Pro85His	p.P85H	ENST00000356742		85	cCc/cAc	0	1		UPI0000038CA3	0	NA	ENST00000242607		ENSG00000122986	28240		31	1.355		HGNC	p.P85H		HVCN1		SNV							ENST00000548312	protein_coding	getma.org/?cm=var&var=hg19,12,111099021,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF44		P/H		T	low	435/1634		getma.org/?cm=msa&ty=f&p=HVCN1_HUMAN&rb=1&re=140&var=P85H	tolerated(0.11)	F8W0B3_HUMAN,F8VPF7_HUMAN				HVCN1,missense_variant,p.Pro85His,ENST00000356742,;HVCN1,missense_variant,p.Pro85His,ENST00000242607,NM_032369.3,NM_001040107.1;HVCN1,missense_variant,p.Pro85His,ENST00000548312,;HVCN1,missense_variant,p.Pro65His,ENST00000439744,NM_001256413.1;HVCN1,missense_variant,p.Pro85His,ENST00000549442,;HVCN1,downstream_gene_variant,,ENST00000546713,;HVCN1,intron_variant,,ENST00000547887,;							MODERATE	254/822	P85H	HVCN1_HUMAN			Transcript		possibly_damaging(0.503)	.	ENSP00000242607		CCDS31900.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103055700	103055700	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	27	9	.	.	ENST00000398093.3:c.6553C>T	p.His2185Tyr	p.H2185Y	ENST00000398093		2185	Cat/Tat	0	1		UPI0000418CA2	0	NA	ENST00000375735		ENSG00000187240	2962		36	1.1		HGNC	p.H2185Y		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,103055700,C,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		H/Y		T	low	6697/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=2111&re=2258&var=H2185Y						DYNC2H1,missense_variant,p.His2185Tyr,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.His2185Tyr,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;							MODERATE	6553/12924	H2185Y	DYHC2_HUMAN			Transcript		benign(0.009)	.	ENSP00000364887		CCDS53701.1			1	
PAGE2B	0	LGGM	GRCh37	X	55103026	55103026	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	1	10	.	.	ENST00000374971.1:c.109C>T	p.Arg37Cys	p.R37C	ENST00000374971	NM_001015038.2	37	Cgt/Tgt	0	1	1	UPI0000040ABA	0	NA	ENST00000374971		ENSG00000238269	31805		11	1.95		HGNC	p.R37C		PAGE2B		SNV							ENST00000374974	protein_coding	getma.org/?cm=var&var=hg19,X,55103026,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14047:SF9,hmmpanther:PTHR14047,Pfam_domain:PF05831		R/C		T	medium	161/493		getma.org/?cm=msa&ty=f&p=GGEE3_HUMAN&rb=4&re=111&var=R37C	tolerated(0.07)				YES	PAGE2B,missense_variant,p.Arg37Cys,ENST00000374971,NM_001015038.2;PAGE2B,missense_variant,p.Arg37Cys,ENST00000374974,;							MODERATE	109/336	R37C	GGEE3_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000364110		CCDS35304.1			1	
KIT	0	LGGM	GRCh37	4	55561720	55561720	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	11	.	.	ENST00000288135.5:c.110C>G	p.Pro37Arg	p.P37R	ENST00000288135	NM_000222.2	37	cCa/cGa	0	1	1	UPI000003F17D	0	getma.org/pdb.php?prot=KIT_HUMAN&from=35&to=111&var=P37R	ENST00000288135		ENSG00000157404	6342		27	2.705		HGNC	p.P37R		KIT		SNV			1				ENST00000412167	protein_coding	getma.org/?cm=var&var=hg19,4,55561720,C,G&fts=all		Low_complexity_(Seg):seg,Gene3D:2.60.40.10,PIRSF_domain:PIRSF000615,PIRSF_domain:PIRSF500951		P/R		G	medium	207/5186		getma.org/?cm=msa&ty=f&p=KIT_HUMAN&rb=35&re=111&var=P37R	deleterious(0)	Q8TCG9_HUMAN			YES	KIT,missense_variant,p.Pro37Arg,ENST00000288135,NM_000222.2,NM_001093772.1;KIT,missense_variant,p.Pro37Arg,ENST00000412167,;KIT,non_coding_transcript_exon_variant,,ENST00000514582,;							MODERATE	110/2931	P37R	KIT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288135		CCDS3496.1			1	
KCNF1	0	LGGM	GRCh37	2	11053561	11053561	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	30	11	.	.	ENST00000295082.1:c.1009G>A	p.Val337Ile	p.V337I	ENST00000295082	NM_002236.4	337	Gtc/Atc	0	1	1	UPI000012DC98	0	getma.org/pdb.php?prot=KCNF1_HUMAN&from=224&to=405&var=V337I	ENST00000295082		ENSG00000162975	6246		41	0.175		HGNC	p.V337I		KCNF1		SNV							ENST00000295082	protein_coding	getma.org/?cm=var&var=hg19,2,11053561,G,A&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,Prints_domain:PR01491,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF42,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		V/I		A	neutral	1499/2288		getma.org/?cm=msa&ty=f&p=KCNF1_HUMAN&rb=224&re=405&var=V337I	tolerated(1)				YES	KCNF1,missense_variant,p.Val337Ile,ENST00000295082,NM_002236.4;							MODERATE	1009/1485	V337I	KCNF1_HUMAN			Transcript		benign(0.225)	.	ENSP00000295082		CCDS1676.1			1	
C16orf96	0	LGGM	GRCh37	16	4606807	4606807	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	9	12	.	.	ENST00000444310.4:c.317A>G	p.Gln106Arg	p.Q106R	ENST00000444310	NM_001145011.1	106	cAg/cGg	0	1	1	UPI0001929538	0	NA	ENST00000444310		ENSG00000205832	40031		21	1.87		HGNC	p.Q106R		C16orf96		SNV							ENST00000444310	protein_coding	getma.org/?cm=var&var=hg19,16,4606807,A,G&fts=all				Q/R		G	low	317/3823		getma.org/?cm=msa&ty=f&p=CP096_HUMAN&rb=1&re=200&var=Q106R	deleterious(0.01)				YES	C16orf96,missense_variant,p.Gln106Arg,ENST00000444310,NM_001145011.1;RP11-709D24.5,downstream_gene_variant,,ENST00000563704,;							MODERATE	317/3426	Q106R	CP096_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000415027		CCDS53986.1			1	
DOCK3	0	LGGM	GRCh37	3	51393561	51393561	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	105	12	.	.	ENST00000266037.9:c.4291G>A	p.Asp1431Asn	p.D1431N	ENST00000266037	NM_004947.4	1431	Gat/Aat	0	1	1	UPI000007412C	0	getma.org/pdb.php?prot=DOCK3_HUMAN&from=1122&to=1630&var=D1431N	ENST00000266037		ENSG00000088538	2989		117	1.355		HGNC	p.D1431N		DOCK3		SNV							ENST00000266037	protein_coding	getma.org/?cm=var&var=hg19,3,51393561,G,A&fts=all		PROSITE_profiles:PS51651,hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF66		D/N		A	low	4314/8755		getma.org/?cm=msa&ty=f&p=DOCK3_HUMAN&rb=1122&re=1630&var=D1431N	tolerated(0.13)				YES	DOCK3,missense_variant,p.Asp1431Asn,ENST00000266037,NM_004947.4;							MODERATE	4291/6093	D1431N	DOCK3_HUMAN			Transcript		benign(0.004)	.	ENSP00000266037		CCDS46835.1			1	
HIST1H3A	0	LGGM	GRCh37	6	26020744	26020744	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	12	.	.	ENST00000357647.3:c.27G>T	p.Arg9=	p.R9=	ENST00000357647	NM_003529.2	9	cgG/cgT	0	1	1	UPI00000003C7	0		ENST00000357647		ENSG00000198366	4766		31			HGNC	p.R9R	COSM740926	HIST1H3A		SNV						1	ENST00000357647	protein_coding			hmmpanther:PTHR11426,Gene3D:1.10.20.10,Superfamily_domains:SSF47113,Prints_domain:PR00622		R		T		27/469							YES	HIST1H3A,synonymous_variant,p.=,ENST00000357647,NM_003529.2;HIST1H1A,upstream_gene_variant,,ENST00000244573,NM_005325.3;HIST1H4A,upstream_gene_variant,,ENST00000359907,NM_003538.3;HIST1H1PS2,downstream_gene_variant,,ENST00000437528,;					1		LOW	27/411		H31_HUMAN			Transcript			.	ENSP00000350275		CCDS4570.1			1	
GLRB	0	LGGM	GRCh37	4	158057997	158057997	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	23	12	.	.	ENST00000264428.4:c.569T>C	p.Phe190Ser	p.F190S	ENST00000264428	NM_000824.4	190	tTt/tCt	0	1	1	UPI000000161E	0	getma.org/pdb.php?prot=GLRB_HUMAN&from=56&to=266&var=F190S	ENST00000264428		ENSG00000109738	4329		35	4.005		HGNC	p.F190S		GLRB		SNV			1				ENST00000541722	protein_coding	getma.org/?cm=var&var=hg19,4,158057997,T,C&fts=all		Superfamily_domains:0038932,Gene3D:2.70.170.10,Pfam_domain:PF02931,Prints_domain:PR00252,PROSITE_patterns:PS00236,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF29,TIGRFAM_domain:TIGR00860		F/S		C	high	839/3126		getma.org/?cm=msa&ty=f&p=GLRB_HUMAN&rb=56&re=266&var=F190S	deleterious(0)				YES	GLRB,missense_variant,p.Phe190Ser,ENST00000264428,NM_000824.4;GLRB,missense_variant,p.Phe190Ser,ENST00000541722,NM_001166061.1;GLRB,missense_variant,p.Phe190Ser,ENST00000509282,NM_001166060.1;GLRB,intron_variant,,ENST00000512619,;GLRB,3_prime_UTR_variant,,ENST00000506411,;GLRB,non_coding_transcript_exon_variant,,ENST00000510970,;GLRB,downstream_gene_variant,,ENST00000515642,;							MODERATE	569/1494	F190S	GLRB_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000264428		CCDS3796.1			1	
POLH	0	LGGM	GRCh37	6	43573011	43573011	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	11	13	.	.	ENST00000372236.4:c.1029A>G	p.Gln343=	p.Q343=	ENST00000372236	NM_006502.2	343	caA/caG	0	1	1	UPI000006F8FD	0		ENST00000372236		ENSG00000170734	9181		24			HGNC	p.Q343Q		POLH		SNV			1				ENST00000372226	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11076,hmmpanther:PTHR11076:SF11,Pfam_domain:PF11799,Gene3D:3.30.1490.100,PIRSF_domain:PIRSF036603,Superfamily_domains:SSF100879		Q		G		1324/3540				Q5JTF2_HUMAN,B4DG64_HUMAN,B3KN75_HUMAN			YES	POLH,synonymous_variant,p.=,ENST00000372236,NM_006502.2;POLH,synonymous_variant,p.=,ENST00000372226,;POLH,synonymous_variant,p.=,ENST00000535400,;GTPBP2,downstream_gene_variant,,ENST00000496137,;							LOW	1029/2142		POLH_HUMAN			Transcript			.	ENSP00000361310		CCDS4902.1			1	
NLRP2	0	LGGM	GRCh37	19	55501506	55501506	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	19	14	.	.	ENST00000543010.1:c.2483C>T	p.Ala828Val	p.A828V	ENST00000543010	NM_001174081.1	828	gCt/gTt	0	1		UPI000004C0CC	0	getma.org/pdb.php?prot=NALP2_HUMAN&from=810&to=833&var=A828V	ENST00000448584		ENSG00000022556	22948		33	-0.375		HGNC	p.A804V		NLRP2		SNV							ENST00000391721	protein_coding	getma.org/?cm=var&var=hg19,19,55501506,C,T&fts=all		Superfamily_domains:SSF52047,SMART_domains:SM00368,Pfam_domain:PF13516,Gene3D:3.80.10.10,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF14		A/V		T	neutral	2625/3573		getma.org/?cm=msa&ty=f&p=NALP2_HUMAN&rb=790&re=853&var=A828V	tolerated(0.7)	K7EPE6_HUMAN,K7ELX1_HUMAN,K7EJ90_HUMAN,F5H7Q5_HUMAN,F5H5B1_HUMAN				NLRP2,missense_variant,p.Ala828Val,ENST00000543010,NM_001174081.1;NLRP2,missense_variant,p.Ala828Val,ENST00000448584,NM_001174083.1,NM_017852.3;NLRP2,missense_variant,p.Ala806Val,ENST00000537859,NM_001174082.1;NLRP2,missense_variant,p.Ala825Val,ENST00000263437,;NLRP2,missense_variant,p.Ala804Val,ENST00000538819,;NLRP2,missense_variant,p.Ala806Val,ENST00000339757,;NLRP2,missense_variant,p.Ala804Val,ENST00000391721,;NLRP2,missense_variant,p.Ala805Val,ENST00000427260,;NLRP2,downstream_gene_variant,,ENST00000540005,;NLRP2,upstream_gene_variant,,ENST00000586512,;NLRP2,3_prime_UTR_variant,,ENST00000381637,;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,;NLRP2,intron_variant,,ENST00000543277,;NLRP2,upstream_gene_variant,,ENST00000542755,;							MODERATE	2483/3189	A828V	NALP2_HUMAN			Transcript		benign(0.096)	.	ENSP00000409370		CCDS12913.1			1	
PPP2R2A	0	LGGM	GRCh37	8	26220199	26220199	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	4	15	.	.	ENST00000315985.7:c.668-1G>T		p.X223_splice	ENST00000315985	NM_001177591.1			0	1		UPI000000D997	0		ENST00000380737		ENSG00000221914	9304		19			HGNC	-		PPP2R2A		SNV							ENST00000380737	protein_coding							T		-/3940				E5RFR9_HUMAN				PPP2R2A,splice_acceptor_variant,,ENST00000380737,NM_002717.3;PPP2R2A,splice_acceptor_variant,,ENST00000315985,NM_001177591.1;PPP2R2A,splice_acceptor_variant,,ENST00000524169,;PPP2R2A,downstream_gene_variant,,ENST00000522535,;PPP2R2A,downstream_gene_variant,,ENST00000521557,;PPP2R2A,downstream_gene_variant,,ENST00000523925,;PPP2R2A,downstream_gene_variant,,ENST00000519636,;PPP2R2A,downstream_gene_variant,,ENST00000524099,;PPP2R2A,downstream_gene_variant,,ENST00000523964,;PPP2R2A,downstream_gene_variant,,ENST00000520438,;PPP2R2A,splice_acceptor_variant,,ENST00000517754,;PPP2R2A,splice_acceptor_variant,,ENST00000518890,;PPP2R2A,splice_acceptor_variant,,ENST00000518215,;PPP2R2A,upstream_gene_variant,,ENST00000518208,;PPP2R2A,downstream_gene_variant,,ENST00000520329,;PPP2R2A,downstream_gene_variant,,ENST00000518397,;PPP2R2A,downstream_gene_variant,,ENST00000519439,;PPP2R2A,downstream_gene_variant,,ENST00000521484,;							HIGH	638/1344		2ABA_HUMAN			Transcript			.	ENSP00000370113		CCDS34867.1			1	
COL7A1	0	LGGM	GRCh37	3	48617238	48617238	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	14	15	.	.	ENST00000328333.8:c.5134G>A	p.Gly1712Arg	p.G1712R	ENST00000328333	NM_000094.3	1712	Gga/Aga	0	1	1	UPI0000126D20	0	NA	ENST00000328333		ENSG00000114270	2214		29	3.4		HGNC	p.G1712R	COSM228925	COL7A1		SNV			1			1	ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48617238,C,T&fts=all		hmmpanther:PTHR24023		G/R		T	medium	5242/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=1549&re=1748&var=G1712R					YES	COL7A1,missense_variant,p.Gly1712Arg,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Gly1712Arg,ENST00000454817,;MIR711,upstream_gene_variant,,ENST00000390201,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;					1		MODERATE	5134/8835	G1712R	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
CSNK1G3	0	LGGM	GRCh37	5	122893227	122893227	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	25	15	.	.	ENST00000395412.1:c.258A>G	p.Glu86=	p.E86=	ENST00000395412		86	gaA/gaG	0	1		UPI000035B1BD	0		ENST00000361991		ENSG00000151292	2456		40			HGNC	p.E86E		CSNK1G3		SNV							ENST00000395411	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR11909:SF112,hmmpanther:PTHR11909,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		E		G		288/2424								CSNK1G3,synonymous_variant,p.=,ENST00000395412,;CSNK1G3,synonymous_variant,p.=,ENST00000395411,NM_004384.4;CSNK1G3,synonymous_variant,p.=,ENST00000345990,NM_001270573.1,NM_001031812.3;CSNK1G3,synonymous_variant,p.=,ENST00000360683,NM_001044723.2;CSNK1G3,synonymous_variant,p.=,ENST00000521364,NM_001270572.1;CSNK1G3,synonymous_variant,p.=,ENST00000361991,;CSNK1G3,synonymous_variant,p.=,ENST00000510842,;CSNK1G3,synonymous_variant,p.=,ENST00000512718,;CSNK1G3,intron_variant,,ENST00000511130,NM_001270574.1;CSNK1G3,non_coding_transcript_exon_variant,,ENST00000514131,;							LOW	258/1344		KC1G3_HUMAN			Transcript			.	ENSP00000354942		CCDS4135.1			1	
KLHL2	0	LGGM	GRCh37	4	166184352	166184352	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	25	15	.	.	ENST00000514860.1:c.397C>G	p.Leu133Val	p.L133V	ENST00000514860		133	Ctt/Gtt	0	1		UPI000020B68D	0	getma.org/pdb.php?prot=KLHL2_HUMAN&from=46&to=153&var=L129V	ENST00000226725		ENSG00000109466	6353		40	2.035		HGNC	p.L32V		KLHL2		SNV							ENST00000421009	protein_coding	getma.org/?cm=var&var=hg19,4,166184352,C,G&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF155,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,SMART_domains:SM00225,Superfamily_domains:SSF54695		L/V		G	medium	644/3134		getma.org/?cm=msa&ty=f&p=KLHL2_HUMAN&rb=46&re=153&var=L129V	deleterious(0.03)	D6RGC3_HUMAN,B4DFZ5_HUMAN				KLHL2,missense_variant,p.Leu129Val,ENST00000226725,NM_007246.3;KLHL2,missense_variant,p.Leu41Val,ENST00000538127,NM_001161522.1,NM_001161521.1;KLHL2,missense_variant,p.Leu32Val,ENST00000421009,;KLHL2,missense_variant,p.Leu133Val,ENST00000514860,;KLHL2,missense_variant,p.Leu91Val,ENST00000509704,;KLHL2,5_prime_UTR_variant,,ENST00000506761,;KLHL2,intron_variant,,ENST00000506541,;KLHL2,upstream_gene_variant,,ENST00000509028,;KLHL2,3_prime_UTR_variant,,ENST00000506824,;							MODERATE	385/1782	L129V	KLHL2_HUMAN			Transcript		benign(0.028)	.	ENSP00000226725		CCDS34094.1			1	
SPDL1	0	LGGM	GRCh37	5	169028440	169028440	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	38	15	.	.	ENST00000265295.4:c.1481T>C	p.Leu494Ser	p.L494S	ENST00000265295	NM_017785.4	494	tTa/tCa	0	1	1	UPI000013D5F0	0	NA	ENST00000265295		ENSG00000040275	26010		53	1.21		HGNC	p.L494S		SPDL1		SNV							ENST00000265295	protein_coding	getma.org/?cm=var&var=hg19,5,169028440,T,C&fts=all		HAMAP:MF_03041,hmmpanther:PTHR32123,hmmpanther:PTHR32123:SF9		L/S		C	low	1760/2668		getma.org/?cm=msa&ty=f&p=SPDLY_HUMAN&rb=9&re=603&var=L494S	tolerated(0.29)	D6RIF7_HUMAN,D6RIB8_HUMAN,D6REZ1_HUMAN,D6RC83_HUMAN,D6R936_HUMAN			YES	SPDL1,missense_variant,p.Leu494Ser,ENST00000265295,NM_017785.4;SPDL1,downstream_gene_variant,,ENST00000505977,;SPDL1,3_prime_UTR_variant,,ENST00000507232,;							MODERATE	1481/1818	L494S	SPDLY_HUMAN			Transcript		benign(0.009)	.	ENSP00000265295		CCDS4370.1			1	
ZNF750	0	LGGM	GRCh37	17	80788140	80788140	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	16	15	.	.	ENST00000269394.3:c.2050C>T	p.Pro684Ser	p.P684S	ENST00000269394	NM_024702.2	684	Ccc/Tcc	0	1	1	UPI000013D82D	0	NA	ENST00000269394		ENSG00000141579	25843		31	0.69		HGNC	p.P285S		ZNF750		SNV			1				ENST00000572562	protein_coding	getma.org/?cm=var&var=hg19,17,80788140,G,A&fts=all		hmmpanther:PTHR14678:SF1,hmmpanther:PTHR14678		P/S		A	neutral	2884/3713		getma.org/?cm=msa&ty=f&p=ZN750_HUMAN&rb=548&re=721&var=P684S	tolerated(0.28)	I3L0W7_HUMAN,B4DWV0_HUMAN			YES	ZNF750,missense_variant,p.Pro684Ser,ENST00000269394,NM_024702.2;ZNF750,missense_variant,p.Pro285Ser,ENST00000572562,;TBCD,intron_variant,,ENST00000355528,NM_005993.4;TBCD,intron_variant,,ENST00000539345,;TBCD,intron_variant,,ENST00000397466,;							MODERATE	2050/2172	P684S	ZN750_HUMAN			Transcript		benign(0.278)	.	ENSP00000269394		CCDS11819.1			1	
RBL2	0	LGGM	GRCh37	16	53513138	53513138	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	5	17	.	.	ENST00000262133.6:c.2775+1G>T		p.X925_splice	ENST00000262133	NM_005611.3			0	1	1	UPI000013D264	0		ENST00000262133		ENSG00000103479	9894		22			HGNC	-		RBL2		SNV							ENST00000262133	protein_coding							T		-/4906				J3KSF7_HUMAN			YES	RBL2,splice_donor_variant,,ENST00000262133,NM_005611.3;RBL2,intron_variant,,ENST00000544545,;RBL2,splice_donor_variant,,ENST00000379935,;RBL2,upstream_gene_variant,,ENST00000564605,;							HIGH	2775/3420		RBL2_HUMAN			Transcript			.	ENSP00000262133		CCDS10748.1			1	
DOCK2	0	LGGM	GRCh37	5	169139215	169139215	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	24	17	.	.	ENST00000256935.8:c.1647A>C	p.Leu549Phe	p.L549F	ENST00000256935	NM_004946.2	549	ttA/ttC	0	1	1	UPI00001A38CC	0	getma.org/pdb.php?prot=DOCK2_HUMAN&from=418&to=617&var=L549F	ENST00000256935		ENSG00000134516	2988		41	3.105		HGNC	p.L549F		DOCK2		SNV							ENST00000256935	protein_coding	getma.org/?cm=var&var=hg19,5,169139215,A,C&fts=all		PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF14429		L/F		C	medium	1727/6097		getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=418&re=617&var=L549F	deleterious(0)	Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,missense_variant,p.Leu549Phe,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,missense_variant,p.Leu549Phe,ENST00000524185,;							MODERATE	1647/5493	L549F	DOCK2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000256935		CCDS4371.1			1	
MAT1A	0	LGGM	GRCh37	10	82049112	82049112	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	29	18	.	.	ENST00000372213.3:c.68A>G	p.Glu23Gly	p.E23G	ENST00000372213	NM_000429.2	23	gAg/gGg	0	1	1	UPI000012EFF3	0	getma.org/pdb.php?prot=METK1_HUMAN&from=16&to=115&var=E23G	ENST00000372213		ENSG00000151224	6903		47	4.46		HGNC	p.E23G		MAT1A		SNV			1				ENST00000372206	protein_coding	getma.org/?cm=var&var=hg19,10,82049112,T,C&fts=all		HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,TIGRFAM_domain:TIGR01034,Pfam_domain:PF00438,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973		E/G		C	high	329/3410		getma.org/?cm=msa&ty=f&p=METK1_HUMAN&rb=16&re=115&var=E23G	deleterious(0)				YES	MAT1A,start_lost,p.Glu1?,ENST00000455001,;MAT1A,missense_variant,p.Glu23Gly,ENST00000372213,NM_000429.2;							MODERATE	68/1188	E23G	METK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361287		CCDS7365.1			1	
PRKCH	0	LGGM	GRCh37	14	61917677	61917677	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	29	18	.	.	ENST00000332981.5:c.820C>A	p.Leu274Ile	p.L274I	ENST00000332981	NM_006255.3	274	Ctt/Att	0	1	1	UPI0000073BBF	0	getma.org/pdb.php?prot=KPCL_HUMAN&from=246&to=298&var=L274I	ENST00000332981		ENSG00000027075	9403		47	2.82		HGNC	p.L274I		PRKCH		SNV			1				ENST00000332981	protein_coding	getma.org/?cm=var&var=hg19,14,61917677,C,A&fts=all		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000551,PIRSF_domain:PIRSF501107,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF51,SMART_domains:SM00109,Superfamily_domains:SSF57889		L/I		A	medium	1205/3582		getma.org/?cm=msa&ty=f&p=KPCL_HUMAN&rb=246&re=298&var=L274I	deleterious(0.02)	G3V5U5_HUMAN,G3V5F8_HUMAN,G3V520_HUMAN,G3V4X4_HUMAN,G3V4Q9_HUMAN,G3V4Q6_HUMAN,G3V4L3_HUMAN,G3V4H0_HUMAN,G3V3E7_HUMAN,G3V304_HUMAN,B4DV01_HUMAN,B4DJN5_HUMAN			YES	PRKCH,missense_variant,p.Leu274Ile,ENST00000332981,NM_006255.3;PRKCH,missense_variant,p.Leu113Ile,ENST00000555082,;PRKCH,missense_variant,p.Leu113Ile,ENST00000557585,;PRKCH,missense_variant,p.Leu5Ile,ENST00000553726,;PRKCH,missense_variant,p.Leu113Ile,ENST00000556778,;PRKCH,intron_variant,,ENST00000555185,;PRKCH,downstream_gene_variant,,ENST00000557473,;PRKCH,downstream_gene_variant,,ENST00000553265,;PRKCH,downstream_gene_variant,,ENST00000553831,;PRKCH,downstream_gene_variant,,ENST00000555906,;PRKCH,downstream_gene_variant,,ENST00000556164,;PRKCH,upstream_gene_variant,,ENST00000553889,;							MODERATE	820/2052	L274I	KPCL_HUMAN			Transcript		possibly_damaging(0.513)	.	ENSP00000329127		CCDS9752.1			1	
NAP1L3	0	LGGM	GRCh37	X	92927725	92927725	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	21	19	.	.	ENST00000373079.3:c.579A>T	p.Glu193Asp	p.E193D	ENST00000373079	NM_004538.5	193	gaA/gaT	0	1	1	UPI0000167B31	0	NA	ENST00000373079		ENSG00000186310	7639		40	1.095		HGNC	p.E193D		NAP1L3		SNV							ENST00000373079	protein_coding	getma.org/?cm=var&var=hg19,X,92927725,T,A&fts=all		Pfam_domain:PF00956,hmmpanther:PTHR11875,hmmpanther:PTHR11875:SF38,Low_complexity_(Seg):seg		E/D		A	low	843/2639		getma.org/?cm=msa&ty=f&p=NP1L3_HUMAN&rb=105&re=215&var=E193D	tolerated(0.12)				YES	NAP1L3,missense_variant,p.Glu193Asp,ENST00000373079,NM_004538.5;NAP1L3,missense_variant,p.Glu186Asp,ENST00000475430,;FAM133A,upstream_gene_variant,,ENST00000538690,NM_001171110.1;FAM133A,upstream_gene_variant,,ENST00000355813,NM_173698.2,NM_001171109.1;FAM133A,upstream_gene_variant,,ENST00000322139,NM_001171111.1;FAM133A,upstream_gene_variant,,ENST00000332647,;							MODERATE	579/1521	E193D	NP1L3_HUMAN			Transcript		possibly_damaging(0.523)	.	ENSP00000362171		CCDS14465.1			1	
IGKV1-9	0	LGGM	GRCh37	2	89309608	89309608	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	90	19	.	.	ENST00000493819.1:c.222C>T	p.Ser74=	p.S74=	ENST00000493819		74	tcC/tcT	0	1	1	UPI00001148ED	0		ENST00000493819		ENSG00000241755	5744		109			HGNC	p.S74S	rs752651035	IGKV1-9		SNV							ENST00000493819	IG_V_gene			Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		A		280/409	3.02E-05						YES	IGKV1-9,synonymous_variant,p.=,ENST00000493819,;							LOW	222/351					Transcript			.	ENSP00000419598	1.66E-05				1	
SLA	0	LGGM	GRCh37	8	134050983	134050983	+	splice_acceptor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	21	20	.	.	ENST00000427060.2:c.738-1G>C		p.X246_splice	ENST00000427060	NM_006748.3			0	1		UPI000004B144	0		ENST00000338087		ENSG00000155926	10902		41			HGNC	-		SLA		SNV							ENST00000338087	protein_coding							G		-/3447				Q6FI01_HUMAN,E5RK95_HUMAN,E5RK29_HUMAN,E5RJ69_HUMAN,E5RHT2_HUMAN,E5RGG0_HUMAN,B7Z4L6_HUMAN				SLA,splice_acceptor_variant,,ENST00000338087,NM_001045556.2;SLA,splice_acceptor_variant,,ENST00000395352,NM_001045557.2;SLA,splice_acceptor_variant,,ENST00000427060,NM_006748.3;SLA,splice_acceptor_variant,,ENST00000524345,NM_001282965.1;SLA,splice_acceptor_variant,,ENST00000517648,NM_001282964.1;TG,intron_variant,,ENST00000220616,NM_003235.4;TG,intron_variant,,ENST00000377869,;TG,intron_variant,,ENST00000542445,;TG,intron_variant,,ENST00000519178,;TG,intron_variant,,ENST00000519543,;SLA,splice_acceptor_variant,,ENST00000517549,;TG,intron_variant,,ENST00000523756,;							HIGH	618/831		SLAP1_HUMAN			Transcript			.	ENSP00000337548		CCDS6370.1			1	
MICAL3	0	LGGM	GRCh37	22	18371875	18371875	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	47	20	.	.	ENST00000441493.2:c.1816G>A	p.Glu606Lys	p.E606K	ENST00000441493	NM_015241.2	606	Gag/Aag	0	1	1	UPI0001823FDE	0	getma.org/pdb.php?prot=MICA3_HUMAN&from=521&to=624&var=E606K	ENST00000441493		ENSG00000243156	24694		67	0.41		HGNC	p.E606K		MICAL3		SNV							ENST00000429452	protein_coding	getma.org/?cm=var&var=hg19,22,18371875,C,T&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF218,SMART_domains:SM00033,Superfamily_domains:SSF47576		E/K		T	neutral	2169/9445		getma.org/?cm=msa&ty=f&p=MICA3_HUMAN&rb=521&re=624&var=E606K		C9J922_HUMAN,A8K0E1_HUMAN			YES	MICAL3,missense_variant,p.Glu606Lys,ENST00000441493,NM_015241.2;MICAL3,missense_variant,p.Glu606Lys,ENST00000429452,NM_001136004.1;MICAL3,missense_variant,p.Glu125Lys,ENST00000461307,;MICAL3,missense_variant,p.Glu606Lys,ENST00000414725,;MICAL3,missense_variant,p.Glu606Lys,ENST00000444520,NM_001122731.1;MICAL3,missense_variant,p.Glu606Lys,ENST00000585038,;MICAL3,missense_variant,p.Glu606Lys,ENST00000207726,;MICAL3,missense_variant,p.Glu606Lys,ENST00000400561,;MICAL3,missense_variant,p.Glu606Lys,ENST00000383094,;MICAL3,3_prime_UTR_variant,,ENST00000495076,;							MODERATE	1816/6009	E606K	MICA3_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000416015		CCDS46659.1			1	
WSCD1	0	LGGM	GRCh37	17	5998516	5998516	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	23	20	.	.	ENST00000574946.1:c.822G>A	p.Gly274=	p.G274=	ENST00000574946		274	ggG/ggA	0	1		UPI0000197208	0		ENST00000317744		ENSG00000179314	29060		43			HGNC	p.G274G		WSCD1		SNV							ENST00000539421	protein_coding			SMART_domains:SM00321,Pfam_domain:PF01822,hmmpanther:PTHR19297:SF90,hmmpanther:PTHR19297,PROSITE_profiles:PS51212		G		A		1149/5819				I3NI40_HUMAN,I3L3G4_HUMAN,I3L2Y9_HUMAN,I3L127_HUMAN				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,downstream_gene_variant,,ENST00000576947,;WSCD1,3_prime_UTR_variant,,ENST00000571494,;							LOW	822/1728		WSCD1_HUMAN			Transcript			.	ENSP00000323087		CCDS32538.1			1	
ADCY9	0	LGGM	GRCh37	16	4042208	4042208	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	18	21	.	.	ENST00000294016.3:c.2146A>T	p.Arg716Trp	p.R716W	ENST00000294016	NM_001116.3	716	Agg/Tgg	0	1	1	UPI000012887F	0	NA	ENST00000294016		ENSG00000162104	240		39	1.845		HGNC	p.R716W		ADCY9		SNV							ENST00000294016	protein_coding	getma.org/?cm=var&var=hg19,16,4042208,T,A&fts=all		hmmpanther:PTHR11920:SF272,hmmpanther:PTHR11920		R/W		A	low	2685/7725		getma.org/?cm=msa&ty=f&p=ADCY9_HUMAN&rb=574&re=773&var=R716W	deleterious(0)				YES	ADCY9,missense_variant,p.Arg716Trp,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,;							MODERATE	2146/4062	R716W	ADCY9_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000294016		CCDS32382.1			1	
MYH3	0	LGGM	GRCh37	17	10533770	10533770	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	41	21	.	.	ENST00000583535.1:c.5292C>G	p.Ala1764=	p.A1764=	ENST00000583535	NM_002470.3	1764	gcC/gcG	0	1	1	UPI000013C892	0		ENST00000583535		ENSG00000109063	7573		62			HGNC	p.A1764A		MYH3		SNV			1				ENST00000583535	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF297,Pfam_domain:PF01576,Superfamily_domains:SSF57997		A		C		5380/6037							YES	MYH3,synonymous_variant,p.=,ENST00000583535,NM_002470.3;MYH3,synonymous_variant,p.=,ENST00000226209,;MYH3,upstream_gene_variant,,ENST00000577963,;MYH3,upstream_gene_variant,,ENST00000579928,;							LOW	5292/5823		MYH3_HUMAN			Transcript			.	ENSP00000464317		CCDS11157.1			1	
ZNF568	0	LGGM	GRCh37	19	37440451	37440451	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	24	21	.	.	ENST00000333987.7:c.396G>A	p.Gln132=	p.Q132=	ENST00000333987	NM_001204835.1	132	caG/caA	0	1	1	UPI000059D700	0		ENST00000333987		ENSG00000198453	25392		45			HGNC	p.Q68Q	rs530144988	ZNF568		SNV							ENST00000587857	protein_coding		A:0	hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF147		Q		A		902/2441				A2VDJ6_HUMAN	A:0	A:0.001	YES	ZNF568,synonymous_variant,p.=,ENST00000415168,NM_001204837.1;ZNF568,synonymous_variant,p.=,ENST00000333987,NM_001204835.1,NM_198539.3;ZNF568,synonymous_variant,p.=,ENST00000587857,NM_001204836.1;ZNF568,intron_variant,,ENST00000455427,NM_001204839.1;ZNF568,intron_variant,,ENST00000444991,NM_001204838.1;ZNF568,intron_variant,,ENST00000427117,;		A:0.0002					LOW	396/1935		ZN568_HUMAN		A:0	Transcript			.	ENSP00000334685		CCDS42558.1		A:0	1	
MAT1A	0	LGGM	GRCh37	10	82049125	82049125	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	21	.	.	ENST00000372213.3:c.55A>C	p.Met19Leu	p.M19L	ENST00000372213	NM_000429.2	19	Atg/Ctg	0	1	1	UPI000012EFF3	0	getma.org/pdb.php?prot=METK1_HUMAN&from=16&to=115&var=M19L	ENST00000372213		ENSG00000151224	6903		52	-3.03		HGNC	p.M19L		MAT1A		SNV			1				ENST00000372206	protein_coding	getma.org/?cm=var&var=hg19,10,82049125,T,G&fts=all		HAMAP:MF_00086,hmmpanther:PTHR11964:SF11,hmmpanther:PTHR11964,TIGRFAM_domain:TIGR01034,Pfam_domain:PF00438,PIRSF_domain:PIRSF000497,Superfamily_domains:SSF55973		M/L		G	neutral	316/3410		getma.org/?cm=msa&ty=f&p=METK1_HUMAN&rb=16&re=115&var=M19L	tolerated(1)				YES	MAT1A,missense_variant,p.Met19Leu,ENST00000372213,NM_000429.2;MAT1A,upstream_gene_variant,,ENST00000455001,;							MODERATE	55/1188	M19L	METK1_HUMAN			Transcript		benign(0.001)	.	ENSP00000361287		CCDS7365.1			1	
HERC1	0	LGGM	GRCh37	15	63972880	63972880	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	62	21	.	.	ENST00000443617.2:c.6321T>A	p.Asp2107Glu	p.D2107E	ENST00000443617	NM_003922.3	2107	gaT/gaA	0	1	1	UPI0000212760	0	getma.org/pdb.php?prot=HERC1_HUMAN&from=2069&to=2192&var=D2107E	ENST00000443617		ENSG00000103657	4867		83	1.32		HGNC	p.D2107E		HERC1		SNV							ENST00000443617	protein_coding	getma.org/?cm=var&var=hg19,15,63972880,A,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		D/E		T	low	6409/15137		getma.org/?cm=msa&ty=f&p=HERC1_HUMAN&rb=2069&re=2192&var=D2107E		H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,missense_variant,p.Asp2107Glu,ENST00000443617,NM_003922.3;HERC1,upstream_gene_variant,,ENST00000559715,;RP11-317G6.1,intron_variant,,ENST00000559303,;							MODERATE	6321/14586	D2107E	HERC1_HUMAN			Transcript		possibly_damaging(0.801)	.	ENSP00000390158		CCDS45277.1			1	
SLC6A15	0	LGGM	GRCh37	12	85264269	85264269	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	44	22	.	.	ENST00000266682.5:c.1483G>T	p.Glu495Ter	p.E495*	ENST00000266682	NM_182767.5	495	Gaa/Taa	0	1	1	UPI0000038BF2	0	NA	ENST00000266682		ENSG00000072041	13621		66	0		HGNC	p.E388X	rs759182477	SLC6A15		SNV							ENST00000552192	protein_coding	getma.org/?cm=var&var=hg19,12,85264269,C,A&fts=all		PROSITE_profiles:PS50267,hmmpanther:PTHR11616,hmmpanther:PTHR11616:SF101,Pfam_domain:PF00209,Superfamily_domains:0053687		E/*		A	NA	2025/4044	1.52E-05	NA		Q68CX0_HUMAN,F8VX16_HUMAN,F8VSG1_HUMAN			YES	SLC6A15,stop_gained,p.Glu495Ter,ENST00000266682,NM_182767.5;SLC6A15,stop_gained,p.Glu203Ter,ENST00000309283,;SLC6A15,stop_gained,p.Glu388Ter,ENST00000552192,NM_001146335.2;SLC6A15,downstream_gene_variant,,ENST00000551612,;SLC6A15,downstream_gene_variant,,ENST00000551388,;SLC6A15,downstream_gene_variant,,ENST00000551818,;SLC6A15,upstream_gene_variant,,ENST00000548267,;							HIGH	1483/2193	E495*	S6A15_HUMAN			Transcript			.	ENSP00000266682	8.24E-06	CCDS9026.1			1	
DKK1	0	LGGM	GRCh37	10	54076189	54076189	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	15	23	.	.	ENST00000373970.3:c.541A>G	p.Thr181Ala	p.T181A	ENST00000373970	NM_012242.2	181	Acc/Gcc	0	1	1	UPI000004C65E	0	getma.org/pdb.php?prot=DKK1_HUMAN&from=141&to=266&var=T181A	ENST00000373970		ENSG00000107984	2891		38	0.455		HGNC	p.T181A		DKK1		SNV			1				ENST00000373970	protein_coding	getma.org/?cm=var&var=hg19,10,54076189,A,G&fts=all		Gene3D:2.10.80.10		T/A		G	neutral	680/1790		getma.org/?cm=msa&ty=f&p=DKK1_HUMAN&rb=141&re=266&var=T181A	tolerated(0.59)	I1W660_HUMAN			YES	DKK1,missense_variant,p.Thr181Ala,ENST00000373970,NM_012242.2;PRKG1-AS1,upstream_gene_variant,,ENST00000420193,;DKK1,non_coding_transcript_exon_variant,,ENST00000467359,;DKK1,non_coding_transcript_exon_variant,,ENST00000476752,;DKK1,non_coding_transcript_exon_variant,,ENST00000494277,;							MODERATE	541/801	T181A	DKK1_HUMAN			Transcript		benign(0.002)	.	ENSP00000363081		CCDS7246.1			1	
DPP6	0	LGGM	GRCh37	7	154659788	154659788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	45	23	.	.	ENST00000377770.3:c.1798G>A	p.Glu600Lys	p.E600K	ENST00000377770		600	Gag/Aag	0	1	1	UPI00001AE746	0	getma.org/pdb.php?prot=DPP6_HUMAN&from=562&to=640&var=E600K	ENST00000377770		ENSG00000130226	3010		68	0.605		HGNC	p.E493K		DPP6		SNV			1				ENST00000427557	protein_coding	getma.org/?cm=var&var=hg19,7,154659788,G,A&fts=all		Superfamily_domains:SSF53474,Gene3D:3.40.50.1820,hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF20		E/K		A	neutral	1939/3710		getma.org/?cm=msa&ty=f&p=DPP6_HUMAN&rb=562&re=640&var=E600K	tolerated(0.9)	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,missense_variant,p.Glu536Lys,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,missense_variant,p.Glu538Lys,ENST00000332007,;DPP6,missense_variant,p.Glu600Lys,ENST00000377770,;DPP6,missense_variant,p.Glu493Lys,ENST00000427557,;RP11-476H24.1,upstream_gene_variant,,ENST00000448767,;DPP6,upstream_gene_variant,,ENST00000479637,;DPP6,non_coding_transcript_exon_variant,,ENST00000488512,;DPP6,non_coding_transcript_exon_variant,,ENST00000484789,;							MODERATE	1798/2598	E600K	DPP6_HUMAN			Transcript		benign(0.001)	.	ENSP00000367001					1	
TBC1D32	0	LGGM	GRCh37	6	121401967	121401967	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	47	25	.	.	ENST00000398212.2:c.3724C>T	p.Arg1242Ter	p.R1242*	ENST00000398212	NM_152730.4	1242	Cga/Tga	0	1	1	UPI0000E67203	0	NA	ENST00000398212		ENSG00000146350	21485		72	0		HGNC	p.R1283X	rs748798523	TBC1D32		SNV							ENST00000275159	protein_coding	getma.org/?cm=var&var=hg19,6,121401967,G,A&fts=all		hmmpanther:PTHR13465,hmmpanther:PTHR13465:SF3,Pfam_domain:PF14961		R/*		A	NA	3774/3824	3.02E-05	NA		A2A304_HUMAN			YES	TBC1D32,stop_gained,p.Arg1283Ter,ENST00000275159,;TBC1D32,stop_gained,p.Arg1242Ter,ENST00000398212,NM_152730.4;TBC1D32,non_coding_transcript_exon_variant,,ENST00000398197,;TBC1D32,3_prime_UTR_variant,,ENST00000464622,;TBC1D32,downstream_gene_variant,,ENST00000519972,;							HIGH	3724/3774	R1242*	BROMI_HUMAN			Transcript			.	ENSP00000381270	1.66E-05	CCDS43501.1			1	
MTMR6	0	LGGM	GRCh37	13	25841990	25841990	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	46	26	.	.	ENST00000381801.5:c.231T>G	p.Thr77=	p.T77=	ENST00000381801	NM_004685.3	77	acT/acG	0	1	1	UPI00001FC8D0	0		ENST00000381801		ENSG00000139505	7453		72			HGNC	p.T77T		MTMR6		SNV							ENST00000540661	protein_coding			hmmpanther:PTHR10807:SF34,hmmpanther:PTHR10807,Gene3D:2.30.29.30,Superfamily_domains:SSF50729		T		C		993/5659				Q8N5Q4_HUMAN			YES	MTMR6,synonymous_variant,p.=,ENST00000381801,NM_004685.3;MTMR6,synonymous_variant,p.=,ENST00000540661,;							LOW	231/1866		MTMR6_HUMAN			Transcript			.	ENSP00000371221		CCDS9313.1			1	
ZEB1	0	LGGM	GRCh37	10	31652382	31652382	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	54	26	.	.	ENST00000607134.1:n.724T>G		*242*	ENST00000607134				0	1		UPI0000136AC6	0		ENST00000320985		ENSG00000148516	11642		80			HGNC	p.S124S		ZEB1		SNV			1				ENST00000359888	protein_coding							C		-/5423								ZEB1,intron_variant,,ENST00000446923,NM_001174094.1,NM_001128128.2;ZEB1,intron_variant,,ENST00000361642,NM_001174093.1,NM_001174095.1,NM_001174096.1,NM_030751.5;ZEB1,intron_variant,,ENST00000320985,;ZEB1,intron_variant,,ENST00000560721,;ZEB1,intron_variant,,ENST00000542815,;ZEB1,intron_variant,,ENST00000561212,;ZEB1,intron_variant,,ENST00000559476,;ZEB1,intron_variant,,ENST00000424869,;ZEB1,intron_variant,,ENST00000558440,;RP11-192P3.5,non_coding_transcript_exon_variant,,ENST00000607134,;RP11-192P3.5,non_coding_transcript_exon_variant,,ENST00000359888,;ZEB1,intron_variant,,ENST00000559858,;ZEB1,intron_variant,,ENST00000493835,;ZEB1,intron_variant,,ENST00000606671,;ZEB1,intron_variant,,ENST00000606161,;ZEB1,intron_variant,,ENST00000483752,;ZEB1,downstream_gene_variant,,ENST00000558832,;ZEB1,intron_variant,,ENST00000437844,;ZEB1,intron_variant,,ENST00000488625,;ZEB1,intron_variant,,ENST00000542879,;ZEB1,intron_variant,,ENST00000558655,;ZEB1,intron_variant,,ENST00000561304,;ZEB1,intron_variant,,ENST00000559496,;ZEB1,intron_variant,,ENST00000558863,;ZEB1,intron_variant,,ENST00000560196,;ZEB1,intron_variant,,ENST00000561061,;ZEB1,intron_variant,,ENST00000557827,;SPTLC1P1,downstream_gene_variant,,ENST00000447199,;							MODIFIER	-/3375		ZEB1_HUMAN			Transcript			.	ENSP00000319248		CCDS7169.1			1	
OPRM1	0	LGGM	GRCh37	6	154410994	154410994	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	23	26	.	.	ENST00000434900.2:c.603C>A	p.Tyr201Ter	p.Y201*	ENST00000434900	NM_001145279.2	201	taC/taA	0	1		UPI0000130D9C	0	NA	ENST00000330432		ENSG00000112038	8156		49	0		HGNC	p.Y108X		OPRM1		SNV							ENST00000337049	protein_coding	getma.org/?cm=var&var=hg19,6,154410994,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF7,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00384,Prints_domain:PR00237		Y/*		A	NA	561/2178		NA		Q7Z6A5_HUMAN,Q71V90_HUMAN,C9EA00_HUMAN,C9E9Z9_HUMAN,C7E9I8_HUMAN,B8K2Q5_HUMAN				OPRM1,stop_gained,p.Tyr108Ter,ENST00000414028,NM_001145284.2;OPRM1,stop_gained,p.Tyr8Ter,ENST00000522236,NM_001145287.1;OPRM1,stop_gained,p.Tyr8Ter,ENST00000522555,NM_001285526.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000435918,NM_001145283.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000330432,NM_000914.3,NM_001285524.1;OPRM1,stop_gained,p.Tyr201Ter,ENST00000434900,NM_001145279.2;OPRM1,stop_gained,p.Tyr8Ter,ENST00000520708,;OPRM1,stop_gained,p.Tyr108Ter,ENST00000428397,NM_001008504.2;OPRM1,stop_gained,p.Tyr108Ter,ENST00000229768,NM_001008505.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000360422,NM_001285523.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000419506,NM_001145286.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000337049,NM_001008503.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000452687,NM_001145282.1;OPRM1,stop_gained,p.Tyr108Ter,ENST00000524163,NM_001145285.1;OPRM1,stop_gained,p.Tyr27Ter,ENST00000518759,NM_001145281.2;OPRM1,stop_gained,p.Tyr156Ter,ENST00000520282,;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,;OPRM1,stop_gained,p.Tyr108Ter,ENST00000519083,;OPRM1,stop_gained,p.Tyr108Ter,ENST00000522739,;OPRM1,intron_variant,,ENST00000524150,;							HIGH	324/1203	Y108*	OPRM_HUMAN			Transcript			.	ENSP00000328264		CCDS55070.1			1	
EXOC2	0	LGGM	GRCh37	6	632965	632965	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	53	26	.	.	ENST00000230449.4:c.271A>C	p.Lys91Gln	p.K91Q	ENST00000230449	NM_018303.5	91	Aag/Cag	0	1	1	UPI000003E7E3	0	getma.org/pdb.php?prot=EXOC2_HUMAN&from=8&to=92&var=K91Q	ENST00000230449		ENSG00000112685	24968		79	1.155		HGNC	p.K91Q		EXOC2		SNV							ENST00000230449	protein_coding	getma.org/?cm=var&var=hg19,6,632965,T,G&fts=all		hmmpanther:PTHR13043,Gene3D:2.60.40.10,Superfamily_domains:SSF81296		K/Q		G	low	407/4449		getma.org/?cm=msa&ty=f&p=EXOC2_HUMAN&rb=8&re=92&var=K91Q	deleterious(0.02)	Q2MDF5_HUMAN,G8JLK9_HUMAN			YES	EXOC2,missense_variant,p.Lys91Gln,ENST00000230449,NM_018303.5;EXOC2,missense_variant,p.Lys91Gln,ENST00000443083,;EXOC2,intron_variant,,ENST00000448181,;							MODERATE	271/2775	K91Q	EXOC2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000230449		CCDS34327.1			1	
GARIN1A	0	LGGM	GRCh37	7	128317830	128317830	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	32	27	.	.	ENST00000480462.1:c.578del	p.Leu193ArgfsTer61	p.L193Rfs*61	ENST00000480462		193	cTg/cg	0	1	1	UPI0000198E09	0		ENST00000480462		ENSG00000205085	27998		59			HGNC	p.L193fs		FAM71F2		deletion							ENST00000480462	protein_coding			hmmpanther:PTHR22574:SF4,hmmpanther:PTHR22574		L/X		-		684/2147							YES	FAM71F2,frameshift_variant,p.Leu193ArgfsTer61,ENST00000480462,;FAM71F2,frameshift_variant,p.Leu184ArgfsTer61,ENST00000378704,NM_001128926.1,NM_001012454.3;FAM71F2,intron_variant,,ENST00000477515,;FAM71F2,non_coding_transcript_exon_variant,,ENST00000460349,;FAM71F2,frameshift_variant,p.Leu184ArgfsTer61,ENST00000434001,;FAM71F2,frameshift_variant,p.Leu184ArgfsTer61,ENST00000474069,;							HIGH	578/930		F71F2_HUMAN			Transcript			.	ENSP00000420140		CCDS47701.1			1	
KIR2DL4	0	LGGM	GRCh37	19	55324728	55324728	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	20	27	.	.	ENST00000345540.5:c.707-417G>A		*236*	ENST00000345540	NM_001080770.1			0	1	1	UPI000013E082	0		ENST00000345540		ENSG00000189013	6332		47			HGNC	p.A283A	rs775132202	KIR2DL4	0.000283	SNV							ENST00000396289	protein_coding							A		-/1447				Q96L48_HUMAN,C3VNC8_HUMAN,C3VNC1_HUMAN			YES	KIR2DL4,synonymous_variant,p.=,ENST00000396289,;KIR2DL4,synonymous_variant,p.=,ENST00000396284,;KIR3DL1,intron_variant,,ENST00000538269,;KIR3DL1,intron_variant,,ENST00000541392,;KIR3DL1,intron_variant,,ENST00000402254,;KIR2DL4,intron_variant,,ENST00000359085,NM_002255.5,NM_001080772.1;KIR2DL4,intron_variant,,ENST00000345540,NM_001080770.1;KIR2DL4,intron_variant,,ENST00000357494,;KIR2DL4,intron_variant,,ENST00000346587,;KIR2DL4,intron_variant,,ENST00000396293,;KIR3DL1,upstream_gene_variant,,ENST00000391728,NM_013289.2;KIR3DL1,upstream_gene_variant,,ENST00000326542,;KIR3DL1,upstream_gene_variant,,ENST00000358178,;KIR2DL4,intron_variant,,ENST00000463062,;KIR2DL4,intron_variant,,ENST00000486965,;							MODIFIER	-/1029		KI2L4_HUMAN			Transcript			.	ENSP00000339634	2.30E-05	CCDS42619.1			1	
DYNC2H1	0	LGGM	GRCh37	11	102985956	102985956	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	65	28	.	.	ENST00000398093.3:c.553C>T	p.Arg185Cys	p.R185C	ENST00000398093		185	Cgt/Tgt	0	1		UPI0000418CA2	0	NA	ENST00000375735		ENSG00000187240	2962	0.00014	93	1.7		HGNC	p.R185C	rs566324506	DYNC2H1		SNV			1	0.000277			ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,102985956,C,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		R/C		T	low	697/13678	2.21E-05	getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=1&re=187&var=R185C						DYNC2H1,missense_variant,p.Arg185Cys,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Arg185Cys,ENST00000398093,;DYNC2H1,missense_variant,p.Arg185Cys,ENST00000334267,;							MODERATE	553/12924	R185C	DYHC2_HUMAN			Transcript		possibly_damaging(0.586)	.	ENSP00000364887	3.31E-05	CCDS53701.1			1	
CHD1	0	LGGM	GRCh37	5	98232937	98232937	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	47	29	.	.	ENST00000284049.3:c.1453C>G	p.Gln485Glu	p.Q485E	ENST00000284049	NM_001270.2	485	Caa/Gaa	0	1	1	UPI000013DD75	0	getma.org/pdb.php?prot=CHD1_HUMAN&from=484&to=765&var=Q485E	ENST00000284049		ENSG00000153922	1915		76	4.65		HGNC	p.Q485E		CHD1		SNV							ENST00000284049	protein_coding	getma.org/?cm=var&var=hg19,5,98232937,G,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799		Q/E		C	high	1603/5918		getma.org/?cm=msa&ty=f&p=CHD1_HUMAN&rb=484&re=765&var=Q485E	deleterious(0)				YES	CHD1,missense_variant,p.Gln485Glu,ENST00000284049,NM_001270.2;							MODERATE	1453/5133	Q485E	CHD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000284049		CCDS34204.1			1	
REV3L	0	LGGM	GRCh37	6	111696021	111696046	+	frameshift_variant	Frame_Shift_Del	DEL	TGCTTTTGATTTCTTAATCTGTGCTC	TGCTTTTGATTTCTTAATCTGTGCTC	-	novel	by Submitter	H110261	H110261N.bam	TGCTTTTGATTTCTTAATCTGTGCTC	TGCTTTTGATTTCTTAATCTGTGCTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	54	29	.	.	ENST00000358835.3:c.3512_3537del	p.Arg1171LysfsTer4	p.R1171Kfs*4	ENST00000358835		1171	aGAGCACAGATTAAGAAATCAAAAGCA/a	0	1	1	UPI0000140023	0		ENST00000358835		ENSG00000009413	9968		83			HGNC	p.1171_1179del		REV3L		deletion							ENST00000358835	protein_coding			hmmpanther:PTHR10322:SF16,hmmpanther:PTHR10322		RAQIKKSKA/X		-		3967-3992/10789				Q9UID5_HUMAN,C4TNX2_HUMAN,C4TNX1_HUMAN,C4TNX0_HUMAN,C4B7Q4_HUMAN			YES	REV3L,frameshift_variant,p.Arg1093LysfsTer4,ENST00000435970,NM_001286432.1;REV3L,frameshift_variant,p.Arg1171LysfsTer4,ENST00000358835,;REV3L,frameshift_variant,p.Arg1171LysfsTer4,ENST00000368802,NM_002912.3;REV3L,frameshift_variant,p.Arg1171LysfsTer4,ENST00000368805,;REV3L,3_prime_UTR_variant,,ENST00000422377,;REV3L,3_prime_UTR_variant,,ENST00000434009,NM_001286431.1;							HIGH	3512-3537/9393		DPOLZ_HUMAN			Transcript			.	ENSP00000351697		CCDS5091.2			1	
TTC39B	0	LGGM	GRCh37	9	15177738	15177738	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	12	29	.	.	ENST00000512701.2:c.1798C>T	p.Arg600Trp	p.R600W	ENST00000512701		600	Cgg/Tgg	0	1	1	UPI0001BE810F	0	NA	ENST00000512701		ENSG00000155158	23704	8.64E-05	41	2.215		HGNC	p.R587W	rs764948699	TTC39B		SNV				9.61E-05			ENST00000380850	protein_coding	getma.org/?cm=var&var=hg19,9,15177738,G,A&fts=all		hmmpanther:PTHR31859,hmmpanther:PTHR31859:SF4,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF81901		R/W		A	medium	1835/10483		getma.org/?cm=msa&ty=f&p=TT39B_HUMAN&rb=594&re=682&var=R600W	deleterious(0.01)				YES	TTC39B,missense_variant,p.Arg600Trp,ENST00000512701,;TTC39B,missense_variant,p.Arg534Trp,ENST00000355694,NM_001168339.1,NM_152574.2;TTC39B,missense_variant,p.Arg587Trp,ENST00000380850,NM_001168340.1;TTC39B,missense_variant,p.Arg531Trp,ENST00000297615,NM_001168341.1;TTC39B,missense_variant,p.Arg435Trp,ENST00000507285,;TTC39B,missense_variant,p.Arg435Trp,ENST00000507993,NM_001168342.1;TTC39B,non_coding_transcript_exon_variant,,ENST00000380853,;							MODERATE	1798/2049	R600W	TT39B_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000422496	2.47E-05	CCDS6477.2	0.0011		1	
TMEM63C	0	LGGM	GRCh37	14	77691785	77691785	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	34	31	.	.	ENST00000298351.4:c.331T>A	p.Phe111Ile	p.F111I	ENST00000298351	NM_020431.2	111	Ttc/Atc	0	1	1	UPI0000049C5C	0	NA	ENST00000298351		ENSG00000165548	23787		65	1.4		HGNC	p.F111I		TMEM63C		SNV							ENST00000298351	protein_coding	getma.org/?cm=var&var=hg19,14,77691785,T,A&fts=all		hmmpanther:PTHR13018:SF21,hmmpanther:PTHR13018,Pfam_domain:PF13967		F/I		A	low	475/5334		getma.org/?cm=msa&ty=f&p=TM63C_HUMAN&rb=38&re=206&var=F111I	tolerated(0.42)	G3V4J5_HUMAN,G3V3S9_HUMAN,G3V3S4_HUMAN,G3V3H0_HUMAN,G3V2V1_HUMAN			YES	TMEM63C,missense_variant,p.Phe111Ile,ENST00000298351,NM_020431.2;TMEM63C,missense_variant,p.Phe111Ile,ENST00000554766,;RP11-463C8.4,3_prime_UTR_variant,,ENST00000557752,;							MODERATE	331/2421	F111I	TM63C_HUMAN			Transcript		benign(0.002)	.	ENSP00000298351		CCDS45141.1			1	
LRRN1	0	LGGM	GRCh37	3	3888175	3888175	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	38	31	.	.	ENST00000319331.3:c.1850C>T	p.Ala617Val	p.A617V	ENST00000319331	NM_020873.5	617	gCc/gTc	0	1	1	UPI0000034CB8	0	NA	ENST00000319331		ENSG00000175928	20980		69	1.055		HGNC	p.A617V		LRRN1		SNV							ENST00000319331	protein_coding	getma.org/?cm=var&var=hg19,3,3888175,C,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF97		A/V		T	low	2611/3823		getma.org/?cm=msa&ty=f&p=LRRN1_HUMAN&rb=517&re=629&var=A617V	tolerated(0.4)				YES	LRRN1,missense_variant,p.Ala617Val,ENST00000319331,NM_020873.5;SUMF1,intron_variant,,ENST00000534863,;LRRN1,downstream_gene_variant,,ENST00000496115,;SUMF1,intron_variant,,ENST00000448413,;							MODERATE	1850/2151	A617V	LRRN1_HUMAN			Transcript		benign(0.004)	.	ENSP00000314901		CCDS33685.1			1	
SRCAP	0	LGGM	GRCh37	16	30745296	30745296	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	39	32	.	.	ENST00000262518.4:c.6576G>A	p.Glu2192=	p.E2192=	ENST00000262518	NM_006662.2	2192	gaG/gaA	0	1	1	UPI000059D368	0		ENST00000262518		ENSG00000080603	16974		71			HGNC	p.E2015E		SRCAP		SNV			1				ENST00000380361	protein_coding			Gene3D:3.40.50.300,PROSITE_profiles:PS51194,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF581,Superfamily_domains:SSF52540		E		A		6961/10474				G1UI29_HUMAN,C9J4U4_HUMAN			YES	SRCAP,synonymous_variant,p.=,ENST00000262518,NM_006662.2;SRCAP,synonymous_variant,p.=,ENST00000395059,;SRCAP,synonymous_variant,p.=,ENST00000344771,;SRCAP,synonymous_variant,p.=,ENST00000380361,;SRCAP,non_coding_transcript_exon_variant,,ENST00000474008,;							LOW	6576/9693		SRCAP_HUMAN			Transcript			.	ENSP00000262518		CCDS10689.2			1	
SBF2	0	LGGM	GRCh37	11	9874266	9874266	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	29	32	.	.	ENST00000256190.8:c.2567A>C	p.Glu856Ala	p.E856A	ENST00000256190	NM_030962.3	856	gAa/gCa	0	1	1	UPI00000622D5	0	NA	ENST00000256190		ENSG00000133812	2135		61	1.975		HGNC	p.E856A		SBF2		SNV			1				ENST00000256190	protein_coding	getma.org/?cm=var&var=hg19,11,9874266,T,G&fts=all		hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF4		E/A		G	medium	2705/7439		getma.org/?cm=msa&ty=f&p=MTMRD_HUMAN&rb=755&re=870&var=E856A	deleterious(0)	H0YDZ1_HUMAN			YES	SBF2,missense_variant,p.Glu856Ala,ENST00000256190,NM_030962.3;SBF2,downstream_gene_variant,,ENST00000420722,;RP11-1H15.2,intron_variant,,ENST00000533659,;SBF2,non_coding_transcript_exon_variant,,ENST00000533770,;							MODERATE	2567/5550	E856A	MTMRD_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000256190		CCDS31427.1			1	
OR4D1	0	LGGM	GRCh37	17	56233003	56233003	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	29	33	.	.	ENST00000268912.5:c.489A>G	p.Ile163Met	p.I163M	ENST00000268912	NM_012374.1	163	atA/atG	0	1	1	UPI0000041E8C	0	NA	ENST00000268912		ENSG00000141194	8293		62	1.15		HGNC	p.I163M		OR4D1		SNV							ENST00000268912	protein_coding	getma.org/?cm=var&var=hg19,17,56233003,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF315,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		I/M		G	low	510/1024		getma.org/?cm=msa&ty=f&p=OR4D1_HUMAN&rb=139&re=280&var=I163M	tolerated(0.35)				YES	OR4D1,missense_variant,p.Ile163Met,ENST00000268912,NM_012374.1;MSX2P1,upstream_gene_variant,,ENST00000584100,;MSX2P1,upstream_gene_variant,,ENST00000432896,;							MODERATE	489/933	I163M	OR4D1_HUMAN			Transcript		benign(0.003)	.	ENSP00000365451		CCDS42365.1			1	
CUX1	0	LGGM	GRCh37	7	101844767	101844767	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	45	34	.	.	ENST00000360264.3:c.2223G>T	p.Gln741His	p.Q741H	ENST00000360264	NM_001202543.1	741	caG/caT	0	1		UPI0000246CDF	0	NA	ENST00000292535		ENSG00000257923	2557		79	0.69		HGNC	p.Q730H		CUX1		SNV							ENST00000292535	protein_coding	getma.org/?cm=var&var=hg19,7,101844767,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14043,hmmpanther:PTHR14043:SF4		Q/H		T	neutral	2228/13747		getma.org/?cm=msa&ty=f&p=CUX1_HUMAN&rb=630&re=829&var=Q730H	tolerated(0.11)					CUX1,missense_variant,p.Gln741His,ENST00000360264,NM_001202543.1;CUX1,missense_variant,p.Gln730His,ENST00000292535,NM_181552.3;CUX1,missense_variant,p.Gln708His,ENST00000549414,;CUX1,missense_variant,p.Gln674His,ENST00000550008,;CUX1,missense_variant,p.Gln628His,ENST00000546411,;CUX1,missense_variant,p.Gln572His,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,;							MODERATE	2190/4518	Q730H	CUX1_HUMAN			Transcript		unknown(0)	.	ENSP00000292535		CCDS5721.1			1	
FAM208B	0	LGGM	GRCh37	10	5804573	5804573	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	30	35	.	.	ENST00000328090.5:c.7253T>G	p.Ile2418Arg	p.I2418R	ENST00000328090	NM_017782.4	2418	aTa/aGa	0	1	1	UPI00004589BB	0	NA	ENST00000328090		ENSG00000108021	23484		65	0.55		HGNC	p.I2418R		FAM208B		SNV							ENST00000328090	protein_coding	getma.org/?cm=var&var=hg19,10,5804573,T,G&fts=all		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		I/R		G	neutral	7878/8626		getma.org/?cm=msa&ty=f&p=F208B_HUMAN&rb=2401&re=2430&var=I2418R	deleterious(0)				YES	FAM208B,missense_variant,p.Ile2418Arg,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,;							MODERATE	7253/7293	I2418R	F208B_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000328426		CCDS41485.1			1	
LAMA3	0	LGGM	GRCh37	18	21453161	21453161	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	18	35	.	.	ENST00000313654.9:c.4998+1536G>C		*1666*	ENST00000313654	NM_198129.1			0	1	1	UPI00001C1222	0		ENST00000313654		ENSG00000053747	6483		53			HGNC	p.V51V		LAMA3		SNV			1				ENST00000269217	protein_coding							C		-/10661				B0YJ32_HUMAN			YES	LAMA3,synonymous_variant,p.=,ENST00000269217,NM_000227.3;LAMA3,synonymous_variant,p.=,ENST00000587184,NM_001127718.1;LAMA3,intron_variant,,ENST00000313654,NM_198129.1;LAMA3,intron_variant,,ENST00000399516,NM_001127717.1;							MODIFIER	-/10002		LAMA3_HUMAN			Transcript			.	ENSP00000324532		CCDS42419.1			1	
ALB	0	LGGM	GRCh37	4	74276071	74276071	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	38	.	.	ENST00000295897.4:c.658del	p.Gln220ArgfsTer21	p.Q220Rfs*21	ENST00000295897	NM_000477.5	220	Cag/ag	0	1	1	UPI000002C1AC	0		ENST00000295897		ENSG00000163631	399		69			HGNC	p.Q70fs		ALB		deletion			1				ENST00000503124	protein_coding			PROSITE_profiles:PS51438,hmmpanther:PTHR11385,hmmpanther:PTHR11385:SF6,Gene3D:1.10.246.10,SMART_domains:SM00103,PIRSF_domain:PIRSF002520		Q/X		-		747/2263							YES	ALB,frameshift_variant,p.Gln220ArgfsTer21,ENST00000295897,NM_000477.5;ALB,frameshift_variant,p.Gln220ArgfsTer21,ENST00000509063,;ALB,frameshift_variant,p.Gln70ArgfsTer21,ENST00000503124,;ALB,frameshift_variant,p.Gln105ArgfsTer21,ENST00000401494,;ALB,frameshift_variant,p.Gln65ArgfsTer21,ENST00000511370,;ALB,intron_variant,,ENST00000415165,;ALB,downstream_gene_variant,,ENST00000441319,;ALB,non_coding_transcript_exon_variant,,ENST00000505649,;ALB,downstream_gene_variant,,ENST00000514786,;ALB,downstream_gene_variant,,ENST00000510166,;ALB,frameshift_variant,p.Asn85LysfsTer32,ENST00000476441,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000504043,;ALB,upstream_gene_variant,,ENST00000507673,;							HIGH	658/1830		ALBU_HUMAN			Transcript			.	ENSP00000295897		CCDS3555.1			1	
AMDHD1	0	LGGM	GRCh37	12	96360239	96360239	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	31	40	.	.	ENST00000266736.2:c.1146G>T	p.Ser382=	p.S382=	ENST00000266736	NM_152435.2	382	tcG/tcT	0	1	1	UPI000013D70B	0		ENST00000266736		ENSG00000139344	28577		71			HGNC	p.S382S		AMDHD1		SNV							ENST00000266736	protein_coding			hmmpanther:PTHR22642,hmmpanther:PTHR22642:SF1,Gene3D:2.30.40.10,Pfam_domain:PF13147,TIGRFAM_domain:TIGR01224,Superfamily_domains:SSF51338,Superfamily_domains:SSF51556		S		T		1252/2136							YES	AMDHD1,synonymous_variant,p.=,ENST00000266736,NM_152435.2;AMDHD1,3_prime_UTR_variant,,ENST00000548310,;							LOW	1146/1281		HUTI_HUMAN			Transcript			.	ENSP00000266736		CCDS9057.1			1	
ZNF337	0	LGGM	GRCh37	20	25656431	25656431	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	66	41	.	.	ENST00000376436.1:c.1493G>A	p.Arg498Gln	p.R498Q	ENST00000376436		498	cGg/cAg	0	1		UPI000013C35E	0	getma.org/pdb.php?prot=ZN337_HUMAN&from=475&to=498&var=R498Q	ENST00000252979		ENSG00000130684	15809		107	1.79		HGNC	p.R466Q	rs766155224	ZNF337		SNV							ENST00000538750	protein_coding	getma.org/?cm=var&var=hg19,20,25656431,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF22,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/Q		T	low	1625/3205	1.50E-05	getma.org/?cm=msa&ty=f&p=ZN337_HUMAN&rb=455&re=518&var=R498Q	tolerated(0.12)	B3KPK8_HUMAN				ZNF337,missense_variant,p.Arg498Gln,ENST00000376436,;ZNF337,missense_variant,p.Arg498Gln,ENST00000252979,NM_015655.2;ZNF337,missense_variant,p.Arg466Gln,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,,ENST00000421829,;ZNF337,downstream_gene_variant,,ENST00000481610,;							MODERATE	1493/2256	R498Q	ZN337_HUMAN			Transcript		possibly_damaging(0.553)	.	ENSP00000252979	8.24E-06	CCDS13174.1			1	
C4orf21	0	LGGM	GRCh37	4	113475113	113475113	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110261	H110261N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	43	42	.	.	ENST00000505019.1:c.5224A>C	p.Ser1742Arg	p.S1742R	ENST00000505019	NM_018392.4	1742	Agt/Cgt	0	1	1	UPI0000EE2F8F	0	getma.org/pdb.php?prot=YD002_HUMAN&from=436&to=669&var=S564R	ENST00000505019		ENSG00000138658	25654		85	0.735		HGNC	p.S640R		C4orf21		SNV							ENST00000445413	protein_coding	getma.org/?cm=var&var=hg19,4,113475113,T,G&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF13086,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF325		S/R		G	neutral	5350/6652		getma.org/?cm=msa&ty=f&p=YD002_HUMAN&rb=436&re=669&var=S564R	deleterious(0)	I3L0G6_HUMAN,D6REN9_HUMAN			YES	C4orf21,missense_variant,p.Ser1742Arg,ENST00000505019,NM_018392.4;C4orf21,missense_variant,p.Ser640Arg,ENST00000445413,;C4orf21,non_coding_transcript_exon_variant,,ENST00000506675,;							MODERATE	5224/6315	S564R	CD021_HUMAN			Transcript		benign(0.168)	.	ENSP00000424737		CCDS3700.2			1	
XIRP2	0	LGGM	GRCh37	2	168106705	168106705	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	35	42	.	.	ENST00000409195.1:c.8803C>T	p.Arg2935Trp	p.R2935W	ENST00000409195	NM_152381.5	2935	Cgg/Tgg	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		77	0		HGNC	p.R2713W	rs758016305	XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168106705,C,T&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		R/W		T	neutral	8892/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=R2760W		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Arg2935Trp,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Arg2935Trp,ENST00000295237,;XIRP2,missense_variant,p.Arg2713Trp,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;							MODERATE	8803/10650	R2760W		0.000151		Transcript		benign(0.041)	.	ENSP00000386840	8.28E-06	CCDS42769.1			1	
PRRX1	0	LGGM	GRCh37	1	170705314	170705314	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	26	54	.	.	ENST00000239461.6:c.725C>T	p.Pro242Leu	p.P242L	ENST00000239461	NM_022716.2	242	cCa/cTa	0	1	1	UPI0000131D11	0	NA	ENST00000239461		ENSG00000116132	9142		80	0.895		HGNC	p.P242L		PRRX1		SNV			1				ENST00000239461	protein_coding	getma.org/?cm=var&var=hg19,1,170705314,C,T&fts=all				P/L		T	low	1038/4284		getma.org/?cm=msa&ty=f&p=PRRX1_HUMAN&rb=208&re=245&var=P242L	deleterious_low_confidence(0)				YES	PRRX1,missense_variant,p.Pro242Leu,ENST00000239461,NM_022716.2;PRRX1,3_prime_UTR_variant,,ENST00000367760,NM_006902.3;PRRX1,non_coding_transcript_exon_variant,,ENST00000476867,;PRRX1,non_coding_transcript_exon_variant,,ENST00000495280,;PRRX1,non_coding_transcript_exon_variant,,ENST00000496573,;PRRX1,non_coding_transcript_exon_variant,,ENST00000485529,;							MODERATE	725/738	P242L	PRRX1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000239461		CCDS1290.1			1	
MOGAT1	0	LGGM	GRCh37	2	223553998	223553998	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	43	54	.	.	ENST00000446656.3:c.288A>G	p.Gln96=	p.Q96=	ENST00000446656	NM_058165.2	96	caA/caG	0	1	1	UPI000013D50F	0		ENST00000446656		ENSG00000124003	18210		97			HGNC	p.Q96Q		MOGAT1		SNV							ENST00000446656	protein_coding			hmmpanther:PTHR12317:SF10,hmmpanther:PTHR12317,Pfam_domain:PF03982		Q		G		288/1048							YES	MOGAT1,synonymous_variant,p.=,ENST00000446656,NM_058165.2;							LOW	288/1008		MOGT1_HUMAN			Transcript			.	ENSP00000406674		CCDS46524.1			1	
CLTC	0	LGGM	GRCh37	17	57724929	57724929	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110261	H110261N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	45	67	.	.	ENST00000269122.3:c.421A>G	p.Met141Val	p.M141V	ENST00000269122	NM_004859.3	141	Atg/Gtg	0	1	1	UPI0000127ABD	0	getma.org/pdb.php?prot=CLH1_HUMAN&from=57&to=147&var=M141V	ENST00000269122		ENSG00000141367	2092		112	0.425		HGNC	p.M141V		CLTC		SNV			1				ENST00000269122	protein_coding	getma.org/?cm=var&var=hg19,17,57724929,A,G&fts=all		hmmpanther:PTHR10292:SF7,hmmpanther:PTHR10292,Gene3D:3gc3B00,PIRSF_domain:PIRSF002290,Superfamily_domains:0046096		M/V		G	neutral	695/7760		getma.org/?cm=msa&ty=f&p=CLH1_HUMAN&rb=57&re=147&var=M141V	tolerated(0.91)	Q49AL0_HUMAN			YES	CLTC,missense_variant,p.Met141Val,ENST00000269122,NM_004859.3,NM_001288653.1;CLTC,missense_variant,p.Met141Val,ENST00000393043,;CLTC,intron_variant,,ENST00000579456,;CLTC,downstream_gene_variant,,ENST00000580081,;CLTC,intron_variant,,ENST00000584313,;CLTC,upstream_gene_variant,,ENST00000472129,;CLTC,upstream_gene_variant,,ENST00000585198,;							MODERATE	421/5028	M141V	CLH1_HUMAN			Transcript		benign(0.001)	.	ENSP00000269122		CCDS32696.1			1	
FLG	0	LGGM	GRCh37	1	152282317	152282317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110261	H110261N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	130	73	.	.	ENST00000368799.1:c.5045G>T	p.Gly1682Val	p.G1682V	ENST00000368799	NM_002016.1	1682	gGa/gTa	0	1	1	UPI0000470CB3	0	NA	ENST00000368799		ENSG00000143631	3748		203	2.175		HGNC	p.G1682V		FLG		SNV			1				ENST00000368799	protein_coding	getma.org/?cm=var&var=hg19,1,152282317,C,A&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF21,Pfam_domain:PF03516		G/V		A	medium	5081/12747		getma.org/?cm=msa&ty=f&p=FILA_HUMAN&rb=1671&re=1725&var=G1682V		Q4JFL9_HUMAN,I0B0K8_HUMAN,I0B0K6_HUMAN,I0B0K5_HUMAN,I0B0K3_HUMAN			YES	FLG,missense_variant,p.Gly1682Val,ENST00000368799,NM_002016.1;FLG-AS1,intron_variant,,ENST00000420707,;FLG-AS1,intron_variant,,ENST00000593011,;FLG-AS1,upstream_gene_variant,,ENST00000392688,;							MODERATE	5045/12186	G1682V	FILA_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000357789		CCDS30860.1			1	
WDFY3	0	LGGM	GRCh37	4	85701299	85701299	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	57	81	.	.	ENST00000295888.4:c.4327C>T	p.Leu1443=	p.L1443=	ENST00000295888	NM_014991.4	1443	Cta/Tta	0	1	1	UPI000013E2C7	0		ENST00000295888		ENSG00000163625	20751		138			HGNC	p.L1443L		WDFY3		SNV							ENST00000295888	protein_coding			hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		L		A		4735/14247				D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,synonymous_variant,p.=,ENST00000322366,;WDFY3,synonymous_variant,p.=,ENST00000295888,NM_014991.4;							LOW	4327/10581		WDFY3_HUMAN			Transcript			.	ENSP00000295888		CCDS3609.1			1	
DST	0	LGGM	GRCh37	6	56470353	56470353	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H110261	H110261N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110261N.bam, H110261T.bam	Illumina HiSeq	149	118	.	.	ENST00000244364.6:c.3672+4872C>G		*1224*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		267			HGNC	p.P2814A		DST		SNV			1				ENST00000312431	protein_coding							C		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Pro2992Ala,ENST00000370754,;DST,missense_variant,p.Pro2814Ala,ENST00000370769,;DST,missense_variant,p.Pro2814Ala,ENST00000312431,;DST,missense_variant,p.Pro2488Ala,ENST00000446842,;DST,missense_variant,p.Pro2814Ala,ENST00000361203,;DST,missense_variant,p.Pro2488Ala,ENST00000439203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
ATP11A	0	LGGM	GRCh37	13	113512583	113512583	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	14	2	.	.	ENST00000487903.1:c.2646C>A	p.Leu882=	p.L882=	ENST00000487903		882	ctC/ctA	0	1		UPI00001FCB27	0		ENST00000375645		ENSG00000068650	13552		16			HGNC	p.L882L		ATP11A		SNV			1				ENST00000375645	protein_coding			Superfamily_domains:0049473,TIGRFAM_domain:TIGR01652,TIGRFAM_domain:TIGR01494,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF33		L		A		2734/8795								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,downstream_gene_variant,,ENST00000489577,;ATP11A,synonymous_variant,p.=,ENST00000471555,;ATP11A,non_coding_transcript_exon_variant,,ENST00000459908,;							LOW	2646/3405		AT11A_HUMAN			Transcript			.	ENSP00000364796		CCDS32011.1			1	
PLCG2	0	LGGM	GRCh37	16	81922800	81922800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	9	2	.	.	ENST00000359376.3:c.789C>A	p.Asn263Lys	p.N263K	ENST00000359376	NM_002661.3	263	aaC/aaA	0	1	1	UPI00001411F7	0	NA	ENST00000359376		ENSG00000197943	9066		11	1.15		HGNC	p.N263K		PLCG2		SNV			1				ENST00000359376	protein_coding	getma.org/?cm=var&var=hg19,16,81922800,C,A&fts=all		Pfam_domain:PF09279,PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25,Superfamily_domains:SSF47473		N/K		A	low	1003/4308		getma.org/?cm=msa&ty=f&p=PLCG2_HUMAN&rb=229&re=309&var=N263K	tolerated(0.5)	H3BQV5_HUMAN			YES	PLCG2,missense_variant,p.Asn263Lys,ENST00000359376,NM_002661.3;PLCG2,missense_variant,p.Asn33Lys,ENST00000563193,;PLCG2,upstream_gene_variant,,ENST00000562605,;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000563375,;							MODERATE	789/3798	N263K	PLCG2_HUMAN			Transcript		benign(0.403)	.	ENSP00000352336		CCDS42204.1			1	
DHX29	0	LGGM	GRCh37	5	54566291	54566291	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H110321	H110321N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	10	2	.	.	ENST00000251636.5:c.3018T>G	p.Ser1006=	p.S1006=	ENST00000251636	NM_019030.2	1006	tcT/tcG	0	1	1	UPI00001AE72C	0		ENST00000251636		ENSG00000067248	15815		12			HGNC	p.S1006S		DHX29		SNV							ENST00000251636	protein_coding			PROSITE_profiles:PS51194,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF82,Superfamily_domains:SSF52540		S		C		3167/4502							YES	DHX29,synonymous_variant,p.=,ENST00000251636,NM_019030.2;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;DHX29,non_coding_transcript_exon_variant,,ENST00000513447,;							LOW	3018/4110		DHX29_HUMAN			Transcript			.	ENSP00000251636		CCDS34158.1			1	
GSTT2B	0	LGGM	GRCh37	22	24302527	24302527	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	6	2	.	.	ENST00000290765.4:c.154G>T	p.Gly52Trp	p.G52W	ENST00000290765	NM_001080843.2	52	Ggg/Tgg	0	1	1	UPI000011244D	0	getma.org/pdb.php?prot=GSTT2_HUMAN&from=10&to=75&var=G52W	ENST00000290765		ENSG00000133433	33437		8	3.82		HGNC	p.G52W		GSTT2B		SNV							ENST00000290765	protein_coding	getma.org/?cm=var&var=hg19,22,24302527,C,A&fts=all		PROSITE_profiles:PS50404,hmmpanther:PTHR11260:SF126,hmmpanther:PTHR11260,Gene3D:3.40.30.10,Pfam_domain:PF02798,Superfamily_domains:SSF52833		G/W		A	high	209/1099		getma.org/?cm=msa&ty=f&p=GSTT2_HUMAN&rb=10&re=75&var=G52W	deleterious(0.02)	G9J6Q5_HUMAN			YES	GSTT2B,missense_variant,p.Gly52Trp,ENST00000290765,NM_001080843.2;GSTT2B,missense_variant,p.Gly52Trp,ENST00000404172,;KB-1125A3.10,upstream_gene_variant,,ENST00000542932,;KB-1125A3.10,upstream_gene_variant,,ENST00000423307,;							MODERATE	154/735	G52W	GSTT2_HUMAN			Transcript		possibly_damaging(0.69)	.	ENSP00000290765		CCDS33617.1			1	
RAB40A	0	LGGM	GRCh37	X	102755202	102755202	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	36	3	.	.	ENST00000372633.1:c.483C>A	p.Phe161Leu	p.F161L	ENST00000372633		161	ttC/ttA	0	1		UPI000013E953	0	getma.org/pdb.php?prot=RB40A_HUMAN&from=16&to=176&var=F161L	ENST00000304236		ENSG00000172476	18283		39	0.41		HGNC	p.F161L		RAB40A		SNV							ENST00000372633	protein_coding	getma.org/?cm=var&var=hg19,X,102755202,G,T&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF442,Pfam_domain:PF00071,Gene3D:3.40.50.300,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449		F/L		T	neutral	825/1345		getma.org/?cm=msa&ty=f&p=RB40A_HUMAN&rb=16&re=176&var=F161L	tolerated(0.11)					RAB40A,missense_variant,p.Phe161Leu,ENST00000372633,;RAB40A,missense_variant,p.Phe161Leu,ENST00000304236,NM_080879.2;LL0XNC01-250H12.3,non_coding_transcript_exon_variant,,ENST00000445990,;							MODERATE	483/834	F161L	RB40A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305648		CCDS35357.1			1	
LTBP4	0	LGGM	GRCh37	19	41132968	41132968	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	46	3	.	.	ENST00000308370.7:c.4272C>T	p.Gly1424=	p.G1424=	ENST00000308370	NM_001042544.1	1424	ggC/ggT	0	1	1	UPI000179A7A0	0		ENST00000308370		ENSG00000090006	6717		49			HGNC	p.G792G		LTBP4		SNV			1				ENST00000545697	protein_coding			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,Low_complexity_(Seg):seg		G		T		4272/5142							YES	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,upstream_gene_variant,,ENST00000598166,;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,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,;							LOW	4272/4872		LTBP4_HUMAN			Transcript			.	ENSP00000311905					1	
TUBG1	0	LGGM	GRCh37	17	40766329	40766329	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	25	3	.	.	ENST00000251413.3:c.895C>A	p.Gln299Lys	p.Q299K	ENST00000251413	NM_001070.4	299	Cag/Aag	0	1	1	UPI0000136A56	0	getma.org/pdb.php?prot=TBG1_HUMAN&from=264&to=393&var=Q299K	ENST00000251413		ENSG00000131462	12417		28	3.445		HGNC	p.Q299K		TUBG1		SNV							ENST00000251413	protein_coding	getma.org/?cm=var&var=hg19,17,40766329,C,A&fts=all		Prints_domain:PR01164,Superfamily_domains:SSF55307,SMART_domains:SM00865,Gene3D:3.30.1330.20,Pfam_domain:PF03953,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF62		Q/K		A	medium	957/1611		getma.org/?cm=msa&ty=f&p=TBG1_HUMAN&rb=264&re=393&var=Q299K	deleterious(0.01)				YES	TUBG1,missense_variant,p.Gln299Lys,ENST00000251413,NM_001070.4;FAM134C,upstream_gene_variant,,ENST00000309428,NM_178126.3;FAM134C,upstream_gene_variant,,ENST00000585894,;FAM134C,upstream_gene_variant,,ENST00000543197,;TUBG1,downstream_gene_variant,,ENST00000591509,;FAM134C,upstream_gene_variant,,ENST00000591547,;FAM134C,upstream_gene_variant,,ENST00000588423,;TUBG1,3_prime_UTR_variant,,ENST00000589688,;FAM134C,upstream_gene_variant,,ENST00000589797,;FAM134C,upstream_gene_variant,,ENST00000586870,;TUBG1,downstream_gene_variant,,ENST00000589613,;FAM134C,upstream_gene_variant,,ENST00000586796,;TUBG1,downstream_gene_variant,,ENST00000588056,;FAM134C,upstream_gene_variant,,ENST00000593251,;FAM134C,upstream_gene_variant,,ENST00000585726,;FAM134C,upstream_gene_variant,,ENST00000590541,;							MODERATE	895/1356	Q299K	TBG1_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000251413		CCDS11433.1			1	
RIMS2	0	LGGM	GRCh37	8	105080789	105080789	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	40	3	.	.	ENST00000406091.3:c.3334+53946C>A		*1112*	ENST00000406091	NM_001100117.2			0	1	1	UPI0001597063	0		ENST00000406091		ENSG00000176406	17283		43			HGNC	p.Y890X		RIMS2		SNV							ENST00000436393	protein_coding							A		-/4050				E9PFB6_HUMAN			YES	RIMS2,stop_gained,p.Tyr890Ter,ENST00000436393,;RIMS2,stop_gained,p.Tyr963Ter,ENST00000408894,;RIMS2,intron_variant,,ENST00000507740,NM_014677.4;RIMS2,intron_variant,,ENST00000406091,NM_001100117.2;RIMS2,intron_variant,,ENST00000262231,NM_001282881.1;							MODIFIER	-/4050		RIMS2_HUMAN			Transcript			.	ENSP00000384892		CCDS55269.1			1	
CSAD	0	LGGM	GRCh37	12	53563888	53563888	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	32	3	.	.	ENST00000267085.4:c.751C>A	p.Leu251Met	p.L251M	ENST00000267085	NM_015989.4	251	Ctg/Atg	0	1		UPI000013D727	0	getma.org/pdb.php?prot=CSAD_HUMAN&from=49&to=417&var=L224M	ENST00000444623		ENSG00000139631	18966		35	4.12		HGNC	p.L77M		CSAD		SNV							ENST00000379846	protein_coding	getma.org/?cm=var&var=hg19,12,53563888,G,T&fts=all		Superfamily_domains:SSF53383,Pfam_domain:PF00282,Gene3D:3.40.640.10,hmmpanther:PTHR11999:SF72,hmmpanther:PTHR11999		L/M		T	high	938/2122		getma.org/?cm=msa&ty=f&p=CSAD_HUMAN&rb=49&re=417&var=L224M	deleterious(0)	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN				CSAD,missense_variant,p.Leu251Met,ENST00000267085,NM_015989.4,NM_001244706.1;CSAD,missense_variant,p.Leu250Met,ENST00000379850,;CSAD,missense_variant,p.Leu77Met,ENST00000379843,;CSAD,missense_variant,p.Leu224Met,ENST00000444623,NM_001244705.1;CSAD,missense_variant,p.Leu77Met,ENST00000379846,;CSAD,missense_variant,p.Leu224Met,ENST00000453446,;CSAD,missense_variant,p.Leu77Met,ENST00000548698,;CSAD,downstream_gene_variant,,ENST00000542115,;CSAD,downstream_gene_variant,,ENST00000498635,;CSAD,downstream_gene_variant,,ENST00000437073,;CSAD,downstream_gene_variant,,ENST00000424990,;CSAD,non_coding_transcript_exon_variant,,ENST00000454442,;CSAD,downstream_gene_variant,,ENST00000491654,;CSAD,synonymous_variant,p.=,ENST00000475890,;CSAD,3_prime_UTR_variant,,ENST00000424845,;CSAD,3_prime_UTR_variant,,ENST00000483632,;CSAD,non_coding_transcript_exon_variant,,ENST00000490923,;CSAD,non_coding_transcript_exon_variant,,ENST00000485004,;CSAD,non_coding_transcript_exon_variant,,ENST00000490589,;CSAD,non_coding_transcript_exon_variant,,ENST00000472908,;CSAD,downstream_gene_variant,,ENST00000461392,;							MODERATE	670/1482	L224M	CSAD_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000415485		CCDS58235.1			1	
PIP	0	LGGM	GRCh37	7	142836618	142836618	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	82	4	.	.	ENST00000291009.3:c.324G>A	p.Val108=	p.V108=	ENST00000291009	NM_002652.2	108	gtG/gtA	0	1	1	UPI0000131B05	0		ENST00000291009		ENSG00000159763	8993		86			HGNC	p.V108V		PIP		SNV							ENST00000291009	protein_coding			hmmpanther:PTHR15096:SF1,hmmpanther:PTHR15096,Pfam_domain:PF05326,PIRSF_domain:PIRSF002572,Superfamily_domains:SSF81296		V		A		364/585							YES	PIP,synonymous_variant,p.=,ENST00000291009,NM_002652.2;							LOW	324/441		PIP_HUMAN			Transcript			.	ENSP00000291009		CCDS34768.1			1	
FDPS	0	LGGM	GRCh37	1	155288542	155288542	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	46	4	.	.	ENST00000356657.6:c.771G>T	p.Lys257Asn	p.K257N	ENST00000356657	NM_001135821.1	257	aaG/aaT	0	1	1	UPI000006E4F7	0	getma.org/pdb.php?prot=FPPS_HUMAN&from=110&to=382&var=K257N	ENST00000356657		ENSG00000160752	3631		50	1.125		HGNC	p.K257N		FDPS		SNV							ENST00000356657	protein_coding	getma.org/?cm=var&var=hg19,1,155288542,G,T&fts=all		Gene3D:1.10.600.10,Pfam_domain:PF00348,hmmpanther:PTHR11525,hmmpanther:PTHR11525:SF0,Superfamily_domains:SSF48576		K/N		T	low	933/1478		getma.org/?cm=msa&ty=f&p=FPPS_HUMAN&rb=110&re=382&var=K257N	tolerated(0.12)				YES	FDPS,missense_variant,p.Lys257Asn,ENST00000356657,NM_001135821.1;FDPS,missense_variant,p.Lys257Asn,ENST00000368356,NM_002004.3;FDPS,missense_variant,p.Lys191Asn,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,intron_variant,,ENST00000446880,;RUSC1-AS1,intron_variant,,ENST00000543656,;RUSC1-AS1,intron_variant,,ENST00000443642,;RUSC1-AS1,downstream_gene_variant,,ENST00000450199,;FDPS,splice_region_variant,,ENST00000468479,;FDPS,splice_region_variant,,ENST00000491013,;FDPS,splice_region_variant,,ENST00000467076,;FDPS,splice_region_variant,,ENST00000477057,;FDPS,splice_region_variant,,ENST00000492244,;FDPS,splice_region_variant,,ENST00000492887,;FDPS,non_coding_transcript_exon_variant,,ENST00000470171,;FDPS,non_coding_transcript_exon_variant,,ENST00000490140,;RUSC1,upstream_gene_variant,,ENST00000497930,;FDPS,downstream_gene_variant,,ENST00000461507,;RUSC1,upstream_gene_variant,,ENST00000484664,;FDPS,downstream_gene_variant,,ENST00000489003,;RUSC1,upstream_gene_variant,,ENST00000467820,;FDPS,downstream_gene_variant,,ENST00000495308,;FDPS,downstream_gene_variant,,ENST00000474345,;FDPS,downstream_gene_variant,,ENST00000465559,;FDPS,downstream_gene_variant,,ENST00000471117,;FDPS,upstream_gene_variant,,ENST00000489324,;							MODERATE	771/1260	K257N	FPPS_HUMAN			Transcript		benign(0.185)	.	ENSP00000349078		CCDS1110.1			1	
NRD1	0	LGGM	GRCh37	1	52275035	52275035	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110321	H110321N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	46	4	.	.	ENST00000354831.7:c.2146T>G	p.Phe716Val	p.F716V	ENST00000354831	NM_002525.2	716	Ttc/Gtc	0	1	1	UPI0000458A53	0	getma.org/pdb.php?prot=NRDC_HUMAN&from=548&to=747&var=F647V	ENST00000354831		ENSG00000078618	7995		50	0.335		HGNC	p.F648V		NRD1		SNV							ENST00000352171	protein_coding	getma.org/?cm=var&var=hg19,1,52275035,A,C&fts=all		hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,Gene3D:3.30.830.10,Superfamily_domains:SSF63411		F/V		C	neutral	2336/3895		getma.org/?cm=msa&ty=f&p=NRDC_HUMAN&rb=548&re=747&var=F647V	tolerated(0.2)	G3V1R5_HUMAN,B1AKJ5_HUMAN			YES	NRD1,missense_variant,p.Phe716Val,ENST00000354831,NM_002525.2;NRD1,missense_variant,p.Phe648Val,ENST00000352171,NM_001101662.1;NRD1,missense_variant,p.Phe584Val,ENST00000539524,NM_001242361.1;NRD1,missense_variant,p.Phe516Val,ENST00000544028,;NRD1,missense_variant,p.Phe103Val,ENST00000440943,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,downstream_gene_variant,,ENST00000483007,;							MODERATE	2146/3660	F647V				Transcript		benign(0.041)	.	ENSP00000346890		CCDS559.1			1	
C15orf32	0	LGGM	GRCh37	15	93016224	93016224	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110321	H110321N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	57	5	.	.	ENST00000333334.2:c.416T>C	p.Val139Ala	p.V139A	ENST00000333334	NM_153040.2	139	gTg/gCg	0	1	1	UPI0000072820	0	NA	ENST00000333334		ENSG00000183643	26549		62	0.55		HGNC	p.V139A		C15orf32		SNV							ENST00000556865	protein_coding	getma.org/?cm=var&var=hg19,15,93016224,T,C&fts=all				V/A		C	neutral	911/1749		getma.org/?cm=msa&ty=f&p=CO032_HUMAN&rb=1&re=177&var=V139A	deleterious_low_confidence(0.04)				YES	C15orf32,missense_variant,p.Val139Ala,ENST00000333334,NM_153040.2;C15orf32,missense_variant,p.Val139Ala,ENST00000556865,;ST8SIA2,downstream_gene_variant,,ENST00000268164,NM_006011.3;RP11-763K15.1,upstream_gene_variant,,ENST00000554440,;							MODERATE	416/537	V139A	CO032_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000330267		CCDS10373.1			1	
SCN10A	0	LGGM	GRCh37	3	38752345	38752345	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110321	H110321N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	17	5	.	.	ENST00000449082.2:c.4133A>T	p.Asp1378Val	p.D1378V	ENST00000449082	NM_006514.2	1378	gAt/gTt	0	1	1	UPI0000209BDA	0	NA	ENST00000449082		ENSG00000185313	10582		22	4.51		HGNC	p.D1378V		SCN10A		SNV			1				ENST00000449082	protein_coding	getma.org/?cm=var&var=hg19,3,38752345,T,A&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF23,Superfamily_domains:SSF81324		D/V		A	high	4133/6418		getma.org/?cm=msa&ty=f&p=SCNAA_HUMAN&rb=1188&re=1417&var=D1378V	deleterious(0)				YES	SCN10A,missense_variant,p.Asp1378Val,ENST00000449082,NM_006514.2;							MODERATE	4133/5871	D1378V	SCNAA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000390600		CCDS33736.1			1	
CD109	0	LGGM	GRCh37	6	74530222	74530222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110321	H110321N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	14	6	.	.	ENST00000287097.5:c.4097T>A	p.Val1366Glu	p.V1366E	ENST00000287097		1366	gTg/gAg	0	1	1	UPI000013DE92	0	getma.org/pdb.php?prot=CD109_HUMAN&from=1311&to=1395&var=V1366E	ENST00000287097		ENSG00000156535	21685		20	0.745		HGNC	p.V1289E		CD109		SNV			1				ENST00000422508	protein_coding	getma.org/?cm=var&var=hg19,6,74530222,T,A&fts=all		Gene3D:1ayoA00,Pfam_domain:PF07677,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF29,Superfamily_domains:SSF49410		V/E		A	neutral	4209/9130		getma.org/?cm=msa&ty=f&p=CD109_HUMAN&rb=1311&re=1395&var=V1366E	deleterious(0.02)	Q5XUN1_HUMAN,Q5XUM8_HUMAN,Q5XUM6_HUMAN,F1C639_HUMAN			YES	CD109,missense_variant,p.Val1349Glu,ENST00000437994,NM_133493.3,NM_001159587.1;CD109,missense_variant,p.Val1289Glu,ENST00000422508,NM_001159588.1;CD109,missense_variant,p.Val1366Glu,ENST00000287097,;							MODERATE	4097/4338	V1366E	CD109_HUMAN			Transcript		benign(0.02)	.	ENSP00000287097		CCDS4982.1			1	
PROCR	0	LGGM	GRCh37	20	33764073	33764073	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	55	6	.	.	ENST00000216968.4:c.425G>C	p.Ser142Thr	p.S142T	ENST00000216968	NM_006404.4	142	aGt/aCt	0	1	1	UPI000012A08E	0	getma.org/pdb.php?prot=EPCR_HUMAN&from=70&to=201&var=S142T	ENST00000216968		ENSG00000101000	9452		61	2.045		HGNC	p.S142T		PROCR		SNV							ENST00000216968	protein_coding	getma.org/?cm=var&var=hg19,20,33764073,G,C&fts=all		Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR15349,Superfamily_domains:SSF54452		S/T		C	medium	507/1348		getma.org/?cm=msa&ty=f&p=EPCR_HUMAN&rb=70&re=201&var=S142T	tolerated(0.09)				YES	PROCR,missense_variant,p.Ser142Thr,ENST00000216968,NM_006404.4;EDEM2,intron_variant,,ENST00000540582,;							MODERATE	425/717	S142T	EPCR_HUMAN			Transcript		benign(0.235)	.	ENSP00000216968		CCDS13248.1			1	
PTN	0	LGGM	GRCh37	7	136936019	136936019	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110321	H110321N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	79	6	.	.	ENST00000348225.2:c.409A>G	p.Ile137Val	p.I137V	ENST00000348225	NM_002825.5	137	Atc/Gtc	0	1	1	UPI000013297B	0	getma.org/pdb.php?prot=PTN_HUMAN&from=96&to=162&var=I137V	ENST00000348225		ENSG00000105894	9630		85	-0.695		HGNC	p.I137V		PTN		SNV							ENST00000393083	protein_coding	getma.org/?cm=var&var=hg19,7,136936019,T,C&fts=all		Superfamily_domains:SSF57288,Gene3D:1mkcA00,Pfam_domain:PF01091,hmmpanther:PTHR13850,hmmpanther:PTHR13850:SF1		I/V		C	neutral	837/1614		getma.org/?cm=msa&ty=f&p=PTN_HUMAN&rb=96&re=162&var=I137V	tolerated(1)				YES	PTN,missense_variant,p.Ile137Val,ENST00000348225,NM_002825.5;PTN,missense_variant,p.Ile137Val,ENST00000393083,;							MODERATE	409/507	I137V	PTN_HUMAN			Transcript		benign(0.02)	.	ENSP00000341170		CCDS5844.1			1	
KIRREL3	0	LGGM	GRCh37	11	126316672	126316672	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110321	H110321N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	35	6	.	.	ENST00000525144.2:c.1107G>A	p.Met369Ile	p.M369I	ENST00000525144	NM_032531.3	369	atG/atA	0	1	1	UPI00000740A0	0	getma.org/pdb.php?prot=KIRR3_HUMAN&from=335&to=416&var=M369I	ENST00000525144		ENSG00000149571	23204		41	0.03		HGNC	p.M369I		KIRREL3		SNV			1				ENST00000525704	protein_coding	getma.org/?cm=var&var=hg19,11,126316672,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR11640,hmmpanther:PTHR11640:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		M/I		T	neutral	1357/3808		getma.org/?cm=msa&ty=f&p=KIRR3_HUMAN&rb=335&re=416&var=M369I	tolerated(0.07)	B4DT91_HUMAN			YES	KIRREL3,missense_variant,p.Met369Ile,ENST00000525144,NM_032531.3;KIRREL3,missense_variant,p.Met369Ile,ENST00000529097,;KIRREL3,missense_variant,p.Met369Ile,ENST00000525704,NM_001161707.1;							MODERATE	1107/2337	M369I	KIRR3_HUMAN			Transcript		possibly_damaging(0.505)	.	ENSP00000435466		CCDS53723.1			1	
KRTAP4-1	0	LGGM	GRCh37	17	39340796	39340852	+	inframe_deletion	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	novel	by Submitter	H110321	H110321N.bam	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	9	33	.	.	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	p.His94_Cys112del	p.H94_C112del	ENST00000398472		85	cgCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCGt/cgt	0	1	1	UPI0000246F4A	0		ENST00000398472		ENSG00000198443	18907		42			HGNC	p.85_104del		KRTAP4-1		deletion							ENST00000398472	protein_coding			hmmpanther:PTHR23262:SF43,hmmpanther:PTHR23262		RPLCCQTTCHPSCGMSSCCR/R		-		743-799/1241							YES	KRTAP4-1,inframe_deletion,p.His94_Cys112del,ENST00000398472,;KRTAP9-1,upstream_gene_variant,,ENST00000377723,;AC006070.12,downstream_gene_variant,,ENST00000508151,;							MODERATE	255-311/441		KRA41_HUMAN			Transcript			.	ENSP00000381489					1	
WASL	0	LGGM	GRCh37	7	123332496	123332496	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	40	17	.	.	ENST00000223023.4:c.1252C>G	p.Gln418Glu	p.Q418E	ENST00000223023	NM_003941.3	418	Cag/Gag	0	1	1	UPI000013C821	0	NA	ENST00000223023		ENSG00000106299	12735		57	2.015		HGNC	p.Q418E		WASL		SNV							ENST00000223023	protein_coding	getma.org/?cm=var&var=hg19,7,123332496,G,C&fts=all		Superfamily_domains:0037032,SMART_domains:SM00246,Pfam_domain:PF02205,hmmpanther:PTHR12779:SF3,hmmpanther:PTHR12779,PROSITE_profiles:PS51082		Q/E		C	medium	1585/4435		getma.org/?cm=msa&ty=f&p=WASL_HUMAN&rb=383&re=448&var=Q418E	deleterious(0.03)				YES	WASL,missense_variant,p.Gln418Glu,ENST00000223023,NM_003941.3;							MODERATE	1252/1518	Q418E	WASL_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000223023		CCDS34743.1			1	
RP11-1186N24.5	0	LGGM	GRCh37	16	15198261	15198331	+	intron_variant,non_coding_transcript_variant	Intron	DEL	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	-	novel	by Submitter	H110321	H110321N.bam	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC	GGGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCAGACACACTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	127	71	.	.	ENST00000569858.1:n.622+1116_622+1186del		*208*	ENST00000569858				0	1			0		ENST00000605794		ENSG00000270580			198		249	Clone_based_vega_gene	p.309_326del		RP11-1186N24.5		deletion							ENST00000547107	lincRNA							-		-/2902							YES	PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;RP11-1186N24.5,downstream_gene_variant,,ENST00000605794,;RP11-72I8.1,intron_variant,,ENST00000569858,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000534799,;NPIPP1,non_coding_transcript_exon_variant,,ENST00000547107,;NPIPP1,downstream_gene_variant,,ENST00000448014,;NPIPP1,downstream_gene_variant,,ENST00000358815,;							MODIFIER						Transcript			.						1	
DNAH2	0	LGGM	GRCh37	17	7726811	7726811	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	40	22	.	.	ENST00000572933.1:c.11194G>T	p.Asp3732Tyr	p.D3732Y	ENST00000572933		3732	Gat/Tat	0	1		UPI00005B2F0D	0	NA	ENST00000389173		ENSG00000183914	2948		62	3.51		HGNC	p.D681Y		DNAH2		SNV							ENST00000575105	protein_coding	getma.org/?cm=var&var=hg19,17,7726811,G,T&fts=all		Pfam_domain:PF03028,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF183		D/Y		T	high	11208/13505		getma.org/?cm=msa&ty=f&p=DYH2_HUMAN&rb=3719&re=4424&var=D3732Y						DNAH2,missense_variant,p.Asp3732Tyr,ENST00000572933,;DNAH2,missense_variant,p.Asp3732Tyr,ENST00000389173,NM_020877.2;DNAH2,missense_variant,p.Asp681Tyr,ENST00000575105,;							MODERATE	11194/13284	D3732Y	DYH2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000373825		CCDS32551.1			1	
ZNF44	0	LGGM	GRCh37	19	12384539	12384539	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110321	H110321N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110321N.bam, H110321T.bam	Illumina HiSeq	56	23	.	.	ENST00000356109.5:c.675C>A	p.Thr225=	p.T225=	ENST00000356109	NM_001164276.1	225	acC/acA	0	1	1	UPI00017A7462	0		ENST00000356109		ENSG00000197857	13110		79			HGNC	p.T225T		ZNF44		SNV							ENST00000393337	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF17,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		T		T		794/2706				Q6LDH8_HUMAN,O14858_HUMAN			YES	ZNF44,synonymous_variant,p.=,ENST00000356109,NM_001164276.1;ZNF44,synonymous_variant,p.=,ENST00000355684,NM_016264.3;ZNF44,synonymous_variant,p.=,ENST00000393337,;ZNF44,synonymous_variant,p.=,ENST00000397742,;ZNF44,intron_variant,,ENST00000600003,;ZNF44,downstream_gene_variant,,ENST00000354656,;							LOW	675/1992		ZNF44_HUMAN			Transcript			.	ENSP00000348419		CCDS54223.1			1	
SLC4A7	0	LGGM	GRCh37	3	27460006	27460006	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	9	2	.	.	ENST00000295736.5:c.1603A>T	p.Ile535Leu	p.I535L	ENST00000295736	NM_003615.4	535	Ata/Tta	0	1	1	UPI0000DBEEB7	0	NA	ENST00000295736		ENSG00000033867	11033		11	2.9		HGNC	p.I85L		SLC4A7		SNV							ENST00000388777	protein_coding	getma.org/?cm=var&var=hg19,3,27460006,T,A&fts=all		Gene3D:1hynR00,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834		I/L		A	medium	1674/7757		getma.org/?cm=msa&ty=f&p=S4A7_HUMAN&rb=533&re=573&var=I535L	deleterious(0)				YES	SLC4A7,missense_variant,p.Ile535Leu,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Ile411Leu,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Ile86Leu,ENST00000419036,;SLC4A7,missense_variant,p.Ile544Leu,ENST00000454389,;SLC4A7,missense_variant,p.Ile531Leu,ENST00000440156,;SLC4A7,missense_variant,p.Ile531Leu,ENST00000445684,;SLC4A7,missense_variant,p.Ile85Leu,ENST00000388777,;SLC4A7,missense_variant,p.Ile527Leu,ENST00000446700,;SLC4A7,missense_variant,p.Ile527Leu,ENST00000425128,;SLC4A7,missense_variant,p.Ile420Leu,ENST00000435667,;SLC4A7,missense_variant,p.Ile416Leu,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Ile416Leu,ENST00000437179,;SLC4A7,missense_variant,p.Ile431Leu,ENST00000428179,;RN7SL859P,downstream_gene_variant,,ENST00000578725,;SLC4A7,missense_variant,p.Ile527Leu,ENST00000438530,;SLC4A7,missense_variant,p.Ile416Leu,ENST00000457377,;SLC4A7,missense_variant,p.Ile416Leu,ENST00000437266,;SLC4A7,downstream_gene_variant,,ENST00000491211,;							MODERATE	1603/3645	I535L	S4A7_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000295736		CCDS33721.1			1	
RASL12	0	LGGM	GRCh37	15	65357567	65357567	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	7	2	.	.	ENST00000220062.4:c.148G>T	p.Asp50Tyr	p.D50Y	ENST00000220062	NM_016563.2	50	Gac/Tac	0	1	1	UPI000006F3CC	0	getma.org/pdb.php?prot=RASLC_HUMAN&from=22&to=185&var=D50Y	ENST00000220062		ENSG00000103710	30289		9	2.35		HGNC	p.D50Y		RASL12		SNV							ENST00000220062	protein_coding	getma.org/?cm=var&var=hg19,15,65357567,C,A&fts=all		Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00175,SMART_domains:SM00173,SMART_domains:SM00174,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,hmmpanther:PTHR24070:SF196,hmmpanther:PTHR24070,PROSITE_profiles:PS51421		D/Y		A	medium	425/2636		getma.org/?cm=msa&ty=f&p=RASLC_HUMAN&rb=22&re=185&var=D50Y	deleterious(0)				YES	RASL12,missense_variant,p.Asp50Tyr,ENST00000220062,NM_016563.2;RASL12,missense_variant,p.Asp39Tyr,ENST00000434605,;RASL12,intron_variant,,ENST00000421977,;							MODERATE	148/801	D50Y	RASLC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000220062		CCDS10200.1			1	
TOP1	0	LGGM	GRCh37	20	39713157	39713157	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	10	2	.	.	ENST00000361337.2:c.563C>T	p.Pro188Leu	p.P188L	ENST00000361337	NM_003286.2	188	cCa/cTa	0	1	1	UPI000004F0B1	0	NA	ENST00000361337		ENSG00000198900	11986		12	1.15		HGNC	p.P188L		TOP1		SNV							ENST00000361337	protein_coding	getma.org/?cm=var&var=hg19,20,39713157,C,T&fts=all		hmmpanther:PTHR10290,hmmpanther:PTHR10290:SF1,Low_complexity_(Seg):seg		P/L		T	low	813/3738		getma.org/?cm=msa&ty=f&p=TOP1_HUMAN&rb=117&re=214&var=P188L	tolerated(0.29)	Q9BVT2_HUMAN			YES	TOP1,missense_variant,p.Pro188Leu,ENST00000361337,NM_003286.2;							MODERATE	563/2298	P188L	TOP1_HUMAN			Transcript		benign(0)	.	ENSP00000354522		CCDS13312.1			1	
HYDIN	0	LGGM	GRCh37	16	70998662	70998662	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	5	2	.	.	ENST00000393567.2:c.5757G>T	p.Ala1919=	p.A1919=	ENST00000393567	NM_001270974.1	1919	gcG/gcT	0	1	1	UPI0001FEF4F9	0		ENST00000393567		ENSG00000157423	19368		7			HGNC	p.A1918A		HYDIN		SNV			1				ENST00000316490	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		A		A		5908/15719				K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,synonymous_variant,p.=,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;HYDIN,non_coding_transcript_exon_variant,,ENST00000543521,;HYDIN,upstream_gene_variant,,ENST00000546297,;							LOW	5757/15366		HYDIN_HUMAN			Transcript			.	ENSP00000377197		CCDS59269.1			1	
SPNS1	0	LGGM	GRCh37	16	28992863	28992863	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	30	3	.	.	ENST00000311008.11:c.736G>A	p.Val246Met	p.V246M	ENST00000311008	NM_032038.2	246	Gtg/Atg	0	1	1	UPI000004DB99	0	NA	ENST00000311008		ENSG00000169682	30621		33	-0.425		HGNC	p.V246M	rs759504146,COSM1377221	SPNS1	0.000182	SNV						0,1	ENST00000311008	protein_coding	getma.org/?cm=var&var=hg19,16,28992863,G,A&fts=all		Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24001,hmmpanther:PTHR24001:SF3,Superfamily_domains:SSF103473		V/M		A	neutral	1113/2208	3.00E-05	getma.org/?cm=msa&ty=f&p=SPNS1_HUMAN&rb=65&re=435&var=V246M	deleterious(0.01)	H3BT44_HUMAN,H3BP14_HUMAN			YES	SPNS1,missense_variant,p.Val246Met,ENST00000311008,NM_032038.2;SPNS1,missense_variant,p.Val173Met,ENST00000323081,NM_001142450.1;SPNS1,missense_variant,p.Val246Met,ENST00000334536,NM_001142451.1;SPNS1,missense_variant,p.Val291Met,ENST00000565975,NM_001142448.1;SPNS1,missense_variant,p.Val224Met,ENST00000352260,NM_001142449.1;SPNS1,missense_variant,p.Val240Met,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,;LAT,upstream_gene_variant,,ENST00000354453,;SPNS1,downstream_gene_variant,,ENST00000568388,;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,;					0,1		MODERATE	736/1587	V246M	SPNS1_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000309945	4.12E-05	CCDS10646.1			1	
GRAMD2	0	LGGM	GRCh37	15	72456002	72456002	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	20	3	.	.	ENST00000309731.7:c.697G>C	p.Val233Leu	p.V233L	ENST00000309731	NM_001012642.2	233	Gtg/Ctg	0	1	1	UPI00001FE7DE	0	NA	ENST00000309731		ENSG00000175318	27287		23	0.895		HGNC	p.V233L		GRAMD2		SNV							ENST00000309731	protein_coding	getma.org/?cm=var&var=hg19,15,72456002,C,G&fts=all		hmmpanther:PTHR23319,hmmpanther:PTHR23319:SF7		V/L		G	low	711/3281		getma.org/?cm=msa&ty=f&p=GRAM2_HUMAN&rb=190&re=352&var=V233L	tolerated(1)	B4E188_HUMAN			YES	GRAMD2,missense_variant,p.Val233Leu,ENST00000309731,NM_001012642.2;GRAMD2,downstream_gene_variant,,ENST00000564129,;GRAMD2,downstream_gene_variant,,ENST00000568594,;GRAMD2,downstream_gene_variant,,ENST00000570275,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564184,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567662,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000565233,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000567029,;GRAMD2,non_coding_transcript_exon_variant,,ENST00000564773,;GRAMD2,downstream_gene_variant,,ENST00000567637,;GRAMD2,downstream_gene_variant,,ENST00000562288,;							MODERATE	697/1065	V233L	GRAM2_HUMAN			Transcript		benign(0.002)	.	ENSP00000311657		CCDS32283.1			1	
OR51A2	0	LGGM	GRCh37	11	4976293	4976293	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	44	3	.	.	ENST00000380371.1:c.651G>T	p.Val217=	p.V217=	ENST00000380371	NM_001004748.1	217	gtG/gtT	0	1	1	UPI0000041B7B	0		ENST00000380371		ENSG00000205496	14764		47			HGNC	p.V217V		OR51A2		SNV							ENST00000380371	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF61,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		V		A		651/942							YES	OR51A2,synonymous_variant,p.=,ENST00000380371,NM_001004748.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							LOW	651/942		O51A2_HUMAN			Transcript			.	ENSP00000369729		CCDS31368.1			1	
SPHKAP	0	LGGM	GRCh37	2	228860334	228860334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	42	3	.	.	ENST00000392056.3:c.4525C>T	p.Pro1509Ser	p.P1509S	ENST00000392056	NM_001142644.1	1509	Cct/Tct	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		45	2.14		HGNC	p.P1509S	rs776554607	SPHKAP		SNV							ENST00000344657	protein_coding	getma.org/?cm=var&var=hg19,2,228860334,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		P/S		A	medium	4572/6917	1.50E-05	getma.org/?cm=msa&ty=f&p=SPKAP_HUMAN&rb=1401&re=1566&var=P1509S	tolerated(0.9)				YES	SPHKAP,missense_variant,p.Pro1509Ser,ENST00000392056,NM_001142644.1;SPHKAP,missense_variant,p.Pro1509Ser,ENST00000344657,NM_030623.3;SPHKAP,non_coding_transcript_exon_variant,,ENST00000490603,;							MODERATE	4525/5103	P1509S	SPKAP_HUMAN			Transcript		benign(0.103)	.	ENSP00000375909	8.24E-06	CCDS46537.1			1	
TCTE1	0	LGGM	GRCh37	6	44254074	44254074	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	18	3	.	.	ENST00000371505.4:c.473G>A	p.Arg158Gln	p.R158Q	ENST00000371505	NM_182539.3	158	cGg/cAg	0	1	1	UPI0000160BC0	0	NA	ENST00000371505		ENSG00000146221	11693		21	2.175		HGNC	p.R158Q		TCTE1		SNV							ENST00000371505	protein_coding	getma.org/?cm=var&var=hg19,6,44254074,C,T&fts=all		hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2		R/Q		T	medium	596/3067		getma.org/?cm=msa&ty=f&p=TCTE1_HUMAN&rb=1&re=200&var=R158Q	deleterious(0)				YES	TCTE1,missense_variant,p.Arg158Gln,ENST00000371505,NM_182539.3;TCTE1,missense_variant,p.Arg5Gln,ENST00000371503,;TCTE1,missense_variant,p.Arg5Gln,ENST00000371504,;TMEM151B,intron_variant,,ENST00000438774,;RP11-444E17.6,intron_variant,,ENST00000505802,;							MODERATE	473/1506	R158Q	TCTE1_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000360560		CCDS4910.1			1	
GNB2L1	0	LGGM	GRCh37	5	180665235	180665235	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	39	3	.	.	ENST00000512805.1:c.641G>T	p.Gly214Val	p.G214V	ENST00000512805	NM_006098.4	214	gGc/gTc	0	1	1	UPI0000001602	0	getma.org/pdb.php?prot=GBLP_HUMAN&from=182&to=220&var=G214V	ENST00000512805		ENSG00000204628	4399		42	3.19		HGNC	p.G262V		GNB2L1		SNV							ENST00000510199	protein_coding	getma.org/?cm=var&var=hg19,5,180665235,C,A&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,Prints_domain:PR00320,PROSITE_patterns:PS00678,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19868,hmmpanther:PTHR19868:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978		G/V		A	medium	1050/1403		getma.org/?cm=msa&ty=f&p=GBLP_HUMAN&rb=182&re=220&var=G214V	deleterious(0)	E9KL35_HUMAN,D6RFX4_HUMAN,D6RF23_HUMAN			YES	GNB2L1,missense_variant,p.Gly200Val,ENST00000502844,;GNB2L1,missense_variant,p.Gly214Val,ENST00000512805,NM_006098.4;GNB2L1,missense_variant,p.Gly262Val,ENST00000510199,;GNB2L1,missense_variant,p.Gly232Val,ENST00000512968,;GNB2L1,missense_variant,p.Gly121Val,ENST00000504128,;GNB2L1,missense_variant,p.Gly170Val,ENST00000376817,;GNB2L1,missense_variant,p.Gly166Val,ENST00000511900,;GNB2L1,missense_variant,p.Gly145Val,ENST00000507756,;GNB2L1,missense_variant,p.Gly173Val,ENST00000507000,;GNB2L1,missense_variant,p.Gly95Val,ENST00000502905,;GNB2L1,missense_variant,p.Gly72Val,ENST00000509535,;GNB2L1,5_prime_UTR_variant,,ENST00000514455,;GNB2L1,intron_variant,,ENST00000511566,;GNB2L1,intron_variant,,ENST00000504726,;TRIM41,downstream_gene_variant,,ENST00000315073,NM_033549.4;TRIM41,downstream_gene_variant,,ENST00000351937,NM_201627.2;GNB2L1,downstream_gene_variant,,ENST00000456394,;TRIM41,downstream_gene_variant,,ENST00000515499,;GNB2L1,upstream_gene_variant,,ENST00000509148,;GNB2L1,downstream_gene_variant,,ENST00000513027,;GNB2L1,downstream_gene_variant,,ENST00000503081,;SNORD96A,downstream_gene_variant,,ENST00000606577,NR_002592.1;GNB2L1,downstream_gene_variant,,ENST00000505461,;TRIM41,downstream_gene_variant,,ENST00000510072,;GNB2L1,downstream_gene_variant,,ENST00000514318,;GNB2L1,downstream_gene_variant,,ENST00000503170,;GNB2L1,3_prime_UTR_variant,,ENST00000508682,;GNB2L1,3_prime_UTR_variant,,ENST00000511473,;GNB2L1,3_prime_UTR_variant,,ENST00000504325,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000513060,;GNB2L1,non_coding_transcript_exon_variant,,ENST00000514183,;TRIM41,downstream_gene_variant,,ENST00000515834,;TRIM41,downstream_gene_variant,,ENST00000515223,;TRIM41,downstream_gene_variant,,ENST00000508930,;TRIM41,downstream_gene_variant,,ENST00000503114,;GNB2L1,downstream_gene_variant,,ENST00000502548,;GNB2L1,downstream_gene_variant,,ENST00000515417,;GNB2L1,downstream_gene_variant,,ENST00000503494,;GNB2L1,downstream_gene_variant,,ENST00000502890,;GNB2L1,downstream_gene_variant,,ENST00000507261,;GNB2L1,downstream_gene_variant,,ENST00000508963,;GNB2L1,downstream_gene_variant,,ENST00000506312,;GNB2L1,downstream_gene_variant,,ENST00000508044,;TRIM41,downstream_gene_variant,,ENST00000514219,;GNB2L1,upstream_gene_variant,,ENST00000507273,;							MODERATE	641/954	G214V	GBLP_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000426909		CCDS34324.1			1	
LRRC43	0	LGGM	GRCh37	12	122685391	122685391	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	14	3	.	.	ENST00000339777.4:c.1719G>A	p.Glu573=	p.E573=	ENST00000339777	NM_152759.4	573	gaG/gaA	0	1	1	UPI00015347BE	0		ENST00000339777		ENSG00000158113	28562		17			HGNC	p.E573E		LRRC43		SNV							ENST00000339777	protein_coding			hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF224		E		A		1747/2028				F5H0N3_HUMAN			YES	LRRC43,synonymous_variant,p.=,ENST00000339777,NM_152759.4;LRRC43,synonymous_variant,p.=,ENST00000425921,NM_001098519.1;B3GNT4,upstream_gene_variant,,ENST00000535274,;B3GNT4,upstream_gene_variant,,ENST00000546192,;B3GNT4,upstream_gene_variant,,ENST00000324189,NM_030765.2;LRRC43,non_coding_transcript_exon_variant,,ENST00000537733,;B3GNT4,upstream_gene_variant,,ENST00000545141,;LRRC43,downstream_gene_variant,,ENST00000541498,;B3GNT4,upstream_gene_variant,,ENST00000537991,;B3GNT4,upstream_gene_variant,,ENST00000538257,;							LOW	1719/1971		LRC43_HUMAN			Transcript			.	ENSP00000344233		CCDS45001.1			1	
TG	0	LGGM	GRCh37	8	133905952	133905952	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	47	3	.	.	ENST00000220616.4:c.2779G>T	p.Glu927Ter	p.E927*	ENST00000220616	NM_003235.4	927	Gaa/Taa	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		50	0		HGNC	p.E927X		TG		SNV			1				ENST00000220616	protein_coding	getma.org/?cm=var&var=hg19,8,133905952,G,T&fts=all		PIRSF_domain:PIRSF001831		E/*		T	NA	2819/8450		NA		Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,stop_gained,p.Glu927Ter,ENST00000220616,NM_003235.4;TG,stop_gained,p.Glu927Ter,ENST00000377869,;TG,upstream_gene_variant,,ENST00000518505,;TG,upstream_gene_variant,,ENST00000523756,;TG,upstream_gene_variant,,ENST00000518097,;							HIGH	2779/8307	E927*	THYG_HUMAN			Transcript			.	ENSP00000220616		CCDS34944.1			1	
CCDC91	0	LGGM	GRCh37	12	28544276	28544276	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	11	3	.	.	ENST00000545336.1:c.694A>T	p.Ile232Phe	p.I232F	ENST00000545336		232	Att/Ttt	0	1		UPI00001AEE23	0	NA	ENST00000381259		ENSG00000123106	24855	8.67E-05	14	0.55		HGNC	p.I232F	rs200277976	CCDC91		SNV							ENST00000543809	protein_coding	getma.org/?cm=var&var=hg19,12,28544276,A,T&fts=all				I/F		T	neutral	710/2334		getma.org/?cm=msa&ty=f&p=CCD91_HUMAN&rb=137&re=439&var=I232F	deleterious(0.03)	F5H4N8_HUMAN,F5GZH9_HUMAN,F5GXK6_HUMAN				CCDC91,missense_variant,p.Ile232Phe,ENST00000545336,;CCDC91,missense_variant,p.Ile232Phe,ENST00000381259,NM_018318.3;CCDC91,missense_variant,p.Ile202Phe,ENST00000306172,;CCDC91,missense_variant,p.Ile28Phe,ENST00000540794,;CCDC91,intron_variant,,ENST00000539107,;CCDC91,intron_variant,,ENST00000381256,;CCDC91,intron_variant,,ENST00000536154,;CCDC91,non_coding_transcript_exon_variant,,ENST00000540401,;CCDC91,non_coding_transcript_exon_variant,,ENST00000539904,;CCDC91,missense_variant,p.Ile232Phe,ENST00000543809,;CCDC91,missense_variant,p.Ile232Phe,ENST00000545737,;CCDC91,missense_variant,p.Ile232Phe,ENST00000536442,;CCDC91,3_prime_UTR_variant,,ENST00000535520,;							MODERATE	694/1326	I232F	CCD91_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000370658	8.24E-06	CCDS8716.1			1	
VN1R2	0	LGGM	GRCh37	19	53762024	53762024	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	31	3	.	.	ENST00000341702.3:c.396T>G	p.Thr132=	p.T132=	ENST00000341702	NM_173856.2	132	acT/acG	0	1	1	UPI0000062046	0		ENST00000341702		ENSG00000196131	19872		34			HGNC	p.T132T		VN1R2		SNV							ENST00000341702	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		T		G		480/1311							YES	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,;							LOW	396/1188		VN1R2_HUMAN			Transcript			.	ENSP00000351244		CCDS12862.1			1	
OR9I1	0	LGGM	GRCh37	11	57886838	57886838	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	26	3	.	.	ENST00000302610.1:c.79C>T	p.Leu27Phe	p.L27F	ENST00000302610	NM_001005211.1	27	Ctc/Ttc	0	1	1	UPI0000041B43	0	NA	ENST00000302610		ENSG00000172377	14718		29	1.9		HGNC	p.L27F	rs778401099	OR9I1	0.000122	SNV							ENST00000302610	protein_coding	getma.org/?cm=var&var=hg19,11,57886838,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26452:SF232,hmmpanther:PTHR26452,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/F		A	low	79/945	1.50E-05	getma.org/?cm=msa&ty=f&p=OR9I1_HUMAN&rb=1&re=138&var=L27F	deleterious(0.04)				YES	OR9I1,missense_variant,p.Leu27Phe,ENST00000302610,NM_001005211.1;OR9Q1,intron_variant,,ENST00000335397,NM_001005212.3;							MODERATE	79/945	L27F	OR9I1_HUMAN			Transcript		benign(0.242)	.	ENSP00000302606	2.47E-05	CCDS31542.1			1	
SCEL	0	LGGM	GRCh37	13	78183227	78183227	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	29	3	.	.	ENST00000349847.3:c.1252C>T	p.Pro418Ser	p.P418S	ENST00000349847	NM_144777.2	418	Cca/Tca	0	1	1	UPI000013CFF1	0	NA	ENST00000349847		ENSG00000136155	10573		32	2.31		HGNC	p.P376S		SCEL		SNV							ENST00000535157	protein_coding	getma.org/?cm=var&var=hg19,13,78183227,C,T&fts=all		hmmpanther:PTHR15468:SF6,hmmpanther:PTHR15468		P/S		T	medium	1336/2386		getma.org/?cm=msa&ty=f&p=SCEL_HUMAN&rb=260&re=459&var=P418S	tolerated(0.08)				YES	SCEL,missense_variant,p.Pro376Ser,ENST00000535157,NM_001160706.1;SCEL,missense_variant,p.Pro398Ser,ENST00000377246,NM_003843.3;SCEL,missense_variant,p.Pro418Ser,ENST00000349847,NM_144777.2;SCEL-AS1,upstream_gene_variant,,ENST00000456280,;SCEL-AS1,upstream_gene_variant,,ENST00000457528,;SCEL,non_coding_transcript_exon_variant,,ENST00000469982,;SCEL,3_prime_UTR_variant,,ENST00000471491,;							MODERATE	1252/2067	P418S	SCEL_HUMAN			Transcript		benign(0.406)	.	ENSP00000302579		CCDS9459.1			1	
SLC35F4	0	LGGM	GRCh37	14	58048139	58048139	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	42	3	.	.	ENST00000339762.6:c.708G>T	p.Arg236=	p.R236=	ENST00000339762		236	cgG/cgT	0	1	1	UPI00006C1432	0		ENST00000339762		ENSG00000151812	19845		45			HGNC	p.R77R		SLC35F4		SNV							ENST00000554729	protein_coding			hmmpanther:PTHR19346,hmmpanther:PTHR19346:SF2		R		A		708/1779							YES	SLC35F4,synonymous_variant,p.=,ENST00000556826,NM_001206920.1;SLC35F4,synonymous_variant,p.=,ENST00000339762,;SLC35F4,synonymous_variant,p.=,ENST00000554729,;RP11-409I10.2,downstream_gene_variant,,ENST00000555600,;SLC35F4,synonymous_variant,p.=,ENST00000557254,;SLC35F4,upstream_gene_variant,,ENST00000556306,;							LOW	708/1566		S35F4_HUMAN			Transcript			.	ENSP00000342518					1	
FAM53B	0	LGGM	GRCh37	10	126370836	126370836	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	4	4	.	.	ENST00000337318.3:c.246G>A	p.Glu82=	p.E82=	ENST00000337318	NM_014661.3	82	gaG/gaA	0	1	1	UPI000013DC3C	0		ENST00000337318		ENSG00000189319	28968		8			HGNC	p.E82E		FAM53B		SNV							ENST00000392754	protein_coding			Pfam_domain:PF15242		E		T		458/5431							YES	FAM53B,synonymous_variant,p.=,ENST00000337318,NM_014661.3;FAM53B,synonymous_variant,p.=,ENST00000392754,;FAM53B,synonymous_variant,p.=,ENST00000280780,;RP11-12J10.3,3_prime_UTR_variant,,ENST00000494792,;							LOW	246/1269		FA53B_HUMAN			Transcript			.	ENSP00000338532		CCDS7641.1			1	
CD300C	0	LGGM	GRCh37	17	72541048	72541048	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	22	4	.	.	ENST00000330793.1:c.100C>A	p.Pro34Thr	p.P34T	ENST00000330793	NM_006678.4	34	Ccc/Acc	0	1	1	UPI0000127BB8	0	getma.org/pdb.php?prot=CLM6_HUMAN&from=22&to=138&var=P34T	ENST00000330793		ENSG00000167850	19320		26	-0.59		HGNC	p.P34T		CD300C		SNV							ENST00000330793	protein_coding	getma.org/?cm=var&var=hg19,17,72541048,G,T&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF39,PROSITE_profiles:PS50835		P/T		T	neutral	461/1517		getma.org/?cm=msa&ty=f&p=CLM6_HUMAN&rb=22&re=138&var=P34T	tolerated(1)				YES	CD300C,missense_variant,p.Pro34Thr,ENST00000330793,NM_006678.4;AC079325.5,downstream_gene_variant,,ENST00000430386,;							MODERATE	100/675	P34T	CLM6_HUMAN			Transcript		benign(0.011)	.	ENSP00000329507		CCDS11701.1			1	
CELF6	0	LGGM	GRCh37	15	72579634	72579634	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	25	4	.	.	ENST00000287202.5:c.1418G>A	p.Arg473Gln	p.R473Q	ENST00000287202	NM_052840.4	473	cGg/cAg	0	1	1	UPI000006F0AA	0	getma.org/pdb.php?prot=CELF6_HUMAN&from=396&to=474&var=R473Q	ENST00000287202		ENSG00000140488	14059		29	-0.01		HGNC	p.R336Q		CELF6		SNV							ENST00000543764	protein_coding	getma.org/?cm=var&var=hg19,15,72579634,C,T&fts=all		Superfamily_domains:SSF54928,Gene3D:3.30.70.330,hmmpanther:PTHR24622,hmmpanther:PTHR24622:SF180,PROSITE_profiles:PS50102		R/Q		T	neutral	1673/3345		getma.org/?cm=msa&ty=f&p=CELF6_HUMAN&rb=396&re=474&var=R473Q	deleterious(0)	B3KWE6_HUMAN			YES	CELF6,missense_variant,p.Arg473Gln,ENST00000287202,NM_052840.4;CELF6,missense_variant,p.Arg360Gln,ENST00000395258,;CELF6,missense_variant,p.Arg334Gln,ENST00000539635,;CELF6,missense_variant,p.Arg336Gln,ENST00000543764,NM_001172685.1;CELF6,missense_variant,p.Arg446Gln,ENST00000567083,NM_001172684.1;RP11-106M3.3,intron_variant,,ENST00000570175,;RP11-106M3.2,non_coding_transcript_exon_variant,,ENST00000379915,;CELF6,downstream_gene_variant,,ENST00000569311,;CELF6,missense_variant,p.Arg473Gln,ENST00000569547,;CELF6,3_prime_UTR_variant,,ENST00000437872,;							MODERATE	1418/1446	R473Q	CELF6_HUMAN			Transcript		benign(0.148)	.	ENSP00000287202		CCDS10242.1			1	
KCNQ1	0	LGGM	GRCh37	11	2604767	2604767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	19	4	.	.	ENST00000155840.5:c.1024C>A	p.Leu342Ile	p.L342I	ENST00000155840	NM_000218.2	342	Ctc/Atc	0	1	1	UPI000004662D	0	getma.org/pdb.php?prot=KCNQ1_HUMAN&from=158&to=347&var=L342I	ENST00000155840		ENSG00000053918	6294		23	1.71		HGNC	p.L215I		KCNQ1		SNV			1				ENST00000335475	protein_coding	getma.org/?cm=var&var=hg19,11,2604767,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF109,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169		L/I		A	low	1132/3245		getma.org/?cm=msa&ty=f&p=KCNQ1_HUMAN&rb=158&re=347&var=L342I	deleterious(0)	Q96AI9_HUMAN,A0FIK7_HUMAN			YES	KCNQ1,missense_variant,p.Leu342Ile,ENST00000155840,NM_000218.2,NM_181798.1;KCNQ1,missense_variant,p.Leu215Ile,ENST00000335475,;							MODERATE	1024/2031	L342I	KCNQ1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000155840		CCDS7736.1			1	
SLCO6A1	0	LGGM	GRCh37	5	101811427	101811427	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	38	4	.	.	ENST00000506729.1:c.873C>A	p.Val291=	p.V291=	ENST00000506729		291	gtC/gtA	0	1		UPI000020C392	0		ENST00000379807		ENSG00000205359	23613		42			HGNC	p.V229V		SLCO6A1		SNV							ENST00000379810	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF3,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805		V		T		1008/2437				H0Y8R6_HUMAN,D3DSZ4_HUMAN				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,non_coding_transcript_exon_variant,,ENST00000514551,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505407,;SLCO6A1,non_coding_transcript_exon_variant,,ENST00000505739,;							LOW	873/2160		SO6A1_HUMAN			Transcript			.	ENSP00000369135		CCDS34206.1			1	
KLKB1	0	LGGM	GRCh37	4	187177177	187177177	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	14	4	.	.	ENST00000264690.6:c.1521A>G	p.Lys507=	p.K507=	ENST00000264690	NM_000892.3	507	aaA/aaG	0	1	1	UPI000050EC06	0		ENST00000264690		ENSG00000164344	6371		18			HGNC	p.K507K		KLKB1		SNV			1				ENST00000513864	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF74,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		K		G		1708/2363				C9JCT1_HUMAN,C9J075_HUMAN,C9IYG8_HUMAN			YES	KLKB1,synonymous_variant,p.=,ENST00000264690,NM_000892.3;KLKB1,synonymous_variant,p.=,ENST00000511608,;KLKB1,synonymous_variant,p.=,ENST00000513864,;KLKB1,non_coding_transcript_exon_variant,,ENST00000511406,;KLKB1,downstream_gene_variant,,ENST00000467271,;							LOW	1521/1917		KLKB1_HUMAN			Transcript			.	ENSP00000264690		CCDS34120.1			1	
CD300E	0	LGGM	GRCh37	17	72613437	72613437	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	30	4	.	.	ENST00000328630.3:c.208G>T	p.Val70Leu	p.V70L	ENST00000328630		70	Gtg/Ttg	0	1		UPI00005A9395	0	getma.org/pdb.php?prot=CLM2_HUMAN&from=15&to=125&var=V70L	ENST00000392619		ENSG00000186407	28874	8.64E-05	34	-0.925		HGNC	p.V70L	rs747124910	CD300E		SNV							ENST00000328630	protein_coding	getma.org/?cm=var&var=hg19,17,72613437,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR11860,hmmpanther:PTHR11860:SF34,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/L		A	neutral	325/3501	4.50E-05	getma.org/?cm=msa&ty=f&p=CLM2_HUMAN&rb=15&re=125&var=V70L	deleterious(0.01)	J3KPN5_HUMAN				CD300E,missense_variant,p.Val97Leu,ENST00000392619,NM_181449.2;CD300E,missense_variant,p.Val111Leu,ENST00000426295,;CD300E,missense_variant,p.Val70Leu,ENST00000328630,;CD300E,missense_variant,p.Val72Leu,ENST00000412268,;							MODERATE	289/699	V70L				Transcript		benign(0.001)	.	ENSP00000376395	3.29E-05				1	
SUOX	0	LGGM	GRCh37	12	56396019	56396019	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	10	4	.	.	ENST00000394109.3:c.14A>G	p.His5Arg	p.H5R	ENST00000394109		5	cAc/cGc	0	1		UPI00001FC4A1	0	NA	ENST00000266971		ENSG00000139531	11460		14	0.205		HGNC	p.H5R		SUOX		SNV			1				ENST00000548274	protein_coding	getma.org/?cm=var&var=hg19,12,56396019,A,G&fts=all				H/R		G	neutral	242/2364		getma.org/?cm=msa&ty=f&p=SUOX_HUMAN&rb=1&re=55&var=H5R	tolerated_low_confidence(0.37)	F8VVW9_HUMAN,F8VRK9_HUMAN,F8VPA2_HUMAN,D6QX84_HUMAN,B2R6Y2_HUMAN				SUOX,missense_variant,p.His5Arg,ENST00000394109,;SUOX,missense_variant,p.His5Arg,ENST00000394115,NM_000456.2;SUOX,missense_variant,p.His5Arg,ENST00000266971,NM_001032386.1;SUOX,missense_variant,p.His5Arg,ENST00000548274,;SUOX,missense_variant,p.His5Arg,ENST00000356124,NM_001032387.1;SUOX,missense_variant,p.His5Arg,ENST00000546833,;SUOX,missense_variant,p.His5Arg,ENST00000551841,;SUOX,missense_variant,p.His5Arg,ENST00000547586,;SUOX,missense_variant,p.His5Arg,ENST00000552258,;SUOX,non_coding_transcript_exon_variant,,ENST00000550478,;SUOX,non_coding_transcript_exon_variant,,ENST00000551698,;SUOX,non_coding_transcript_exon_variant,,ENST00000550340,;SUOX,intron_variant,,ENST00000552363,;SUOX,downstream_gene_variant,,ENST00000550121,;SUOX,missense_variant,p.His5Arg,ENST00000550065,;SUOX,non_coding_transcript_exon_variant,,ENST00000546712,;SUOX,non_coding_transcript_exon_variant,,ENST00000552813,;							MODERATE	14/1638	H5R	SUOX_HUMAN			Transcript		benign(0)	.	ENSP00000266971		CCDS8901.2			1	
NAT10	0	LGGM	GRCh37	11	34153050	34153050	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	37	4	.	.	ENST00000257829.3:c.1492G>T	p.Gly498Cys	p.G498C	ENST00000257829	NM_024662.2	498	Ggc/Tgc	0	1	1	UPI000013CF8E	0	NA	ENST00000257829		ENSG00000135372	29830		41	3.09		HGNC	p.G498C		NAT10		SNV							ENST00000257829	protein_coding	getma.org/?cm=var&var=hg19,11,34153050,G,T&fts=all		hmmpanther:PTHR10925		G/C		T	medium	1698/4002		getma.org/?cm=msa&ty=f&p=NAT10_HUMAN&rb=489&re=527&var=G498C	deleterious(0.02)	E9PJN6_HUMAN,E7ESU4_HUMAN			YES	NAT10,missense_variant,p.Gly498Cys,ENST00000257829,NM_024662.2;NAT10,missense_variant,p.Gly426Cys,ENST00000531159,NM_001144030.1;NAT10,intron_variant,,ENST00000527971,;							MODERATE	1492/3078	G498C	NAT10_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000257829		CCDS7889.1			1	
WDFY3	0	LGGM	GRCh37	4	85658343	85658343	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	26	4	.	.	ENST00000295888.4:c.6751C>A	p.His2251Asn	p.H2251N	ENST00000295888	NM_014991.4	2251	Cat/Aat	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		30	1.61		HGNC	p.H2251N		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85658343,G,T&fts=all		hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		H/N		T	low	7159/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=2201&re=2400&var=H2251N	deleterious(0.01)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.His2251Asn,ENST00000322366,;WDFY3,missense_variant,p.His2251Asn,ENST00000295888,NM_014991.4;WDFY3,upstream_gene_variant,,ENST00000514711,;WDFY3,non_coding_transcript_exon_variant,,ENST00000504839,;							MODERATE	6751/10581	H2251N	WDFY3_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000295888		CCDS3609.1			1	
CACNA2D2	0	LGGM	GRCh37	3	50405084	50405084	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	6	4	.	.	ENST00000479441.1:c.2307C>A	p.Val769=	p.V769=	ENST00000479441		769	gtC/gtA	0	1	1	UPI0000E5A6AF	0		ENST00000479441		ENSG00000007402	1400		10			HGNC	p.V769V		CACNA2D2		SNV							ENST00000423994	protein_coding			hmmpanther:PTHR10166:SF7,hmmpanther:PTHR10166		V		T		2307/3453							YES	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,;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,;							LOW	2307/3453		CA2D2_HUMAN			Transcript			.	ENSP00000418081		CCDS54588.1			1	
MOGAT2	0	LGGM	GRCh37	11	75439863	75439863	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	34	4	.	.	ENST00000198801.5:c.679G>A	p.Gly227Arg	p.G227R	ENST00000198801	NM_025098.2	227	Ggg/Agg	0	1	1	UPI000000D839	0	NA	ENST00000198801		ENSG00000166391	23248		38	3.925		HGNC	p.G145R	rs769871558	MOGAT2		SNV							ENST00000526712	protein_coding	getma.org/?cm=var&var=hg19,11,75439863,G,A&fts=all		hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF5,Pfam_domain:PF03982		G/R		A	high	749/1404	3.00E-05	getma.org/?cm=msa&ty=f&p=MOGT2_HUMAN&rb=39&re=334&var=G227R	deleterious(0)				YES	MOGAT2,missense_variant,p.Gly145Arg,ENST00000526712,;MOGAT2,missense_variant,p.Gly227Arg,ENST00000198801,NM_025098.2;MOGAT2,3_prime_UTR_variant,,ENST00000525093,;	0.000231						MODERATE	679/1005	G227R	MOGT2_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000198801	3.29E-05	CCDS8240.1			1	
WDR75	0	LGGM	GRCh37	2	190339492	190339492	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	11	4	.	.	ENST00000314761.4:c.2246C>T	p.Ser749Phe	p.S749F	ENST00000314761	NM_032168.1	749	tCc/tTc	0	1	1	UPI000007452C	0	NA	ENST00000314761		ENSG00000115368	25725		15	1.905		HGNC	p.S749F	rs755378434,COSM1669602	WDR75		SNV						0,1	ENST00000314761	protein_coding	getma.org/?cm=var&var=hg19,2,190339492,C,T&fts=all				S/F		T	medium	2306/2701	4.50E-05	getma.org/?cm=msa&ty=f&p=WDR75_HUMAN&rb=674&re=830&var=S749F	deleterious(0)	Q05D27_HUMAN,A8K330_HUMAN			YES	WDR75,missense_variant,p.Ser749Phe,ENST00000314761,NM_032168.1;WDR75,3_prime_UTR_variant,,ENST00000427960,;WDR75,3_prime_UTR_variant,,ENST00000436347,;					0,1		MODERATE	2246/2493	S749F	WDR75_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000314193	2.47E-05	CCDS2298.1			1	
ABCC9	0	LGGM	GRCh37	12	22065826	22065826	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	26	5	.	.	ENST00000261200.4:c.991G>A	p.Gly331Arg	p.G331R	ENST00000261200	NM_020297.2	331	Ggg/Agg	0	1		UPI000013D141	0	NA	ENST00000261201		ENSG00000069431	60		31	0.895		HGNC	p.G331R		ABCC9		SNV			1				ENST00000261200	protein_coding	getma.org/?cm=var&var=hg19,12,22065826,C,T&fts=all		Superfamily_domains:SSF90123,Gene3D:2hydA01,Pfam_domain:PF00664,hmmpanther:PTHR24223:SF173,hmmpanther:PTHR24223,PROSITE_profiles:PS50929,Low_complexity_(Seg):seg		G/R		T	low	991/4650		getma.org/?cm=msa&ty=f&p=ABCC9_HUMAN&rb=297&re=585&var=G331R	tolerated(0.52)					ABCC9,missense_variant,p.Gly331Arg,ENST00000261200,NM_020297.2;ABCC9,missense_variant,p.Gly331Arg,ENST00000261201,NM_005691.2;ABCC9,missense_variant,p.Gly331Arg,ENST00000345162,;ABCC9,upstream_gene_variant,,ENST00000544039,;							MODERATE	991/4650	G331R	ABCC9_HUMAN			Transcript		benign(0.094)	.	ENSP00000261201		CCDS8694.1			1	
MTPAP	0	LGGM	GRCh37	10	30630407	30630407	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	11	5	.	.	ENST00000263063.4:c.320A>G	p.Tyr107Cys	p.Y107C	ENST00000263063	NM_018109.3	107	tAt/tGt	0	1	1	UPI0000070081	0	getma.org/pdb.php?prot=PAPD1_HUMAN&from=1&to=196&var=Y107C	ENST00000263063		ENSG00000107951	25532		16	2.28		HGNC	p.Y107C		MTPAP		SNV			1				ENST00000263063	protein_coding	getma.org/?cm=var&var=hg19,10,30630407,T,C&fts=all		hmmpanther:PTHR12271:SF33,hmmpanther:PTHR12271		Y/C		C	medium	364/5601		getma.org/?cm=msa&ty=f&p=PAPD1_HUMAN&rb=1&re=196&var=Y107C	deleterious(0)	Q5T852_HUMAN			YES	MTPAP,missense_variant,p.Tyr237Cys,ENST00000358107,;MTPAP,missense_variant,p.Tyr107Cys,ENST00000263063,NM_018109.3;MTPAP,missense_variant,p.Tyr42Cys,ENST00000417581,;MTPAP,missense_variant,p.Tyr69Cys,ENST00000421701,;MTPAP,non_coding_transcript_exon_variant,,ENST00000488290,;							MODERATE	320/1749	Y107C	PAPD1_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000263063		CCDS7165.1			1	
LRRIQ1	0	LGGM	GRCh37	12	85521720	85521720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	63	5	.	.	ENST00000393217.2:c.4118C>A	p.Ser1373Tyr	p.S1373Y	ENST00000393217	NM_001079910.1	1373	tCc/tAc	0	1	1	UPI0000ED4E82	0	NA	ENST00000393217		ENSG00000133640	25708		68	0		HGNC	p.S1373Y		LRRIQ1		SNV							ENST00000393217	protein_coding	getma.org/?cm=var&var=hg19,12,85521720,C,A&fts=all				S/Y		A	neutral	4179/5394		getma.org/?cm=msa&ty=f&p=LRIQ1_HUMAN&rb=1357&re=1395&var=S1373Y	tolerated(1)	A8MY60_HUMAN			YES	LRRIQ1,missense_variant,p.Ser1373Tyr,ENST00000393217,NM_001079910.1;LRRIQ1,downstream_gene_variant,,ENST00000525971,;							MODERATE	4118/5169	S1373Y	LRIQ1_HUMAN			Transcript		benign(0.002)	.	ENSP00000376910		CCDS41816.1			1	
FAM208B	0	LGGM	GRCh37	10	5791926	5791926	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	8	5	.	.	ENST00000328090.5:c.6542G>A	p.Cys2181Tyr	p.C2181Y	ENST00000328090	NM_017782.4	2181	tGt/tAt	0	1	1	UPI00004589BB	0	NA	ENST00000328090		ENSG00000108021	23484		13	2.135		HGNC	p.C2181Y		FAM208B		SNV							ENST00000328090	protein_coding	getma.org/?cm=var&var=hg19,10,5791926,G,A&fts=all		hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		C/Y		A	medium	7167/8626		getma.org/?cm=msa&ty=f&p=F208B_HUMAN&rb=2001&re=2200&var=C2181Y	deleterious(0.03)				YES	FAM208B,missense_variant,p.Cys2181Tyr,ENST00000328090,NM_017782.4;							MODERATE	6542/7293	C2181Y	F208B_HUMAN			Transcript		benign(0.388)	.	ENSP00000328426		CCDS41485.1			1	
CHRDL2	0	LGGM	GRCh37	11	74408331	74408331	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	26	5	.	.	ENST00000263671.5:c.1187T>G	p.Leu396Arg	p.L396R	ENST00000263671	NM_015424.4	396	cTt/cGt	0	1		UPI0000039F09	0	NA	ENST00000376332		ENSG00000054938	24168		31	1.24		HGNC	p.L378V		CHRDL2		SNV							ENST00000376332	protein_coding	getma.org/?cm=var&var=hg19,11,74408331,A,C&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF226		L/V		C	low	1629/1867		getma.org/?cm=msa&ty=f&p=E9PCG7_HUMAN&rb=175&re=374&var=L331R	tolerated(0.05)					CHRDL2,missense_variant,p.Leu378Val,ENST00000376332,NM_001278473.1;CHRDL2,missense_variant,p.Leu396Arg,ENST00000263671,NM_015424.4;CHRDL2,missense_variant,p.Leu36Arg,ENST00000529912,;CHRDL2,intron_variant,,ENST00000525413,;CHRDL2,downstream_gene_variant,,ENST00000534159,;CHRDL2,3_prime_UTR_variant,,ENST00000376324,;AP001324.1,downstream_gene_variant,,ENST00000330802,;							MODERATE	1132/1290	L331R	CRDL2_HUMAN			Transcript		benign(0.437)	.	ENSP00000365510		CCDS60893.1			1	
TTN	0	LGGM	GRCh37	2	179615303	179615303	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	19	5	.	.	ENST00000589042.1:c.11311+2548T>C		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		24	0.895		HGNC	p.C3942R		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179615303,A,G&fts=all						G	low	-/104301		getma.org/?cm=msa&ty=f&p=E7EQE1_HUMAN&rb=3902&re=3975&var=C3944R		C9JQJ2_HUMAN				TTN,missense_variant,p.Cys3942Arg,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,;							MODIFIER	-/103053	C3944R	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
RYR3	0	LGGM	GRCh37	15	33905473	33905473	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	57	5	.	.	ENST00000389232.4:c.2254A>T	p.Ser752Cys	p.S752C	ENST00000389232	NM_001036.3	752	Agc/Tgc	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		62	1.525		HGNC	p.S752C		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,33905473,A,T&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715,PROSITE_profiles:PS50188		S/C		T	low	2324/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=657&re=795&var=S752C					YES	RYR3,missense_variant,p.Ser752Cys,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Ser752Cys,ENST00000415757,NM_001243996.1;							MODERATE	2254/14613	S752C	RYR3_HUMAN			Transcript		benign(0.166)	.	ENSP00000373884		CCDS45210.1			1	
SGK1	0	LGGM	GRCh37	6	134492245	134492245	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	29	5	.	.	ENST00000367858.5:c.1239A>G	p.Pro413=	p.P413=	ENST00000367858	NM_001143676.1	413	ccA/ccG	0	1		UPI0000050C3D	0		ENST00000237305		ENSG00000118515	10810		34			HGNC	p.P413P		SGK1		SNV							ENST00000367858	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF148,SMART_domains:SM00220,Superfamily_domains:SSF56112		P		C		1043/2401				Q8IZV4_HUMAN,Q6AW81_HUMAN,B7Z1G1_HUMAN				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,downstream_gene_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,,ENST00000473704,;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,,ENST00000525877,;SGK1,downstream_gene_variant,,ENST00000525700,;SGK1,downstream_gene_variant,,ENST00000472859,;SGK1,downstream_gene_variant,,ENST00000524764,;							LOW	954/1296		SGK1_HUMAN			Transcript			.	ENSP00000237305		CCDS5170.1			1	
GALC	0	LGGM	GRCh37	14	88401205	88401205	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	18	5	.	.	ENST00000261304.2:c.1929C>T	p.Gly643=	p.G643=	ENST00000261304	NM_000153.3	643	ggC/ggT	0	1	1	UPI00001FD982	0		ENST00000261304		ENSG00000054983	4115		23			HGNC	p.G617G		GALC		SNV			1				ENST00000393569	protein_coding			Pfam_domain:PF02057,hmmpanther:PTHR15172,hmmpanther:PTHR15172:SF1		G		A		2036/3883							YES	GALC,synonymous_variant,p.=,ENST00000261304,NM_000153.3,NM_001201401.1;GALC,synonymous_variant,p.=,ENST00000393569,NM_001201402.1;GALC,synonymous_variant,p.=,ENST00000393568,;GALC,intron_variant,,ENST00000544807,;GALC,3_prime_UTR_variant,,ENST00000555179,;GALC,intron_variant,,ENST00000555000,;							LOW	1929/2058		GALC_HUMAN			Transcript			.	ENSP00000261304		CCDS9878.2			1	
SNX18	0	LGGM	GRCh37	5	53814856	53814856	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	17	5	.	.	ENST00000326277.3:c.1074G>T	p.Trp358Cys	p.W358C	ENST00000326277	NM_052870.2	358	tgG/tgT	0	1	1	UPI00001418B0	0	getma.org/pdb.php?prot=SNX18_HUMAN&from=274&to=382&var=W358C	ENST00000326277		ENSG00000178996	19245		22	-0.205		HGNC	p.W358C		SNX18		SNV							ENST00000343017	protein_coding	getma.org/?cm=var&var=hg19,5,53814856,G,T&fts=all		Gene3D:3.30.1520.10,Pfam_domain:PF00787,PIRSF_domain:PIRSF027744,PROSITE_profiles:PS50195,hmmpanther:PTHR10555,hmmpanther:PTHR10555:SF13,SMART_domains:SM00312,Superfamily_domains:SSF64268		W/C		T	neutral	1264/3241		getma.org/?cm=msa&ty=f&p=SNX18_HUMAN&rb=274&re=382&var=W358C	tolerated(0.22)				YES	SNX18,missense_variant,p.Trp358Cys,ENST00000343017,NM_001145427.1;SNX18,missense_variant,p.Trp358Cys,ENST00000381410,NM_001102575.1;SNX18,missense_variant,p.Trp358Cys,ENST00000326277,NM_052870.2;							MODERATE	1074/1887	W358C	SNX18_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000317332		CCDS3962.1			1	
NUP98	0	LGGM	GRCh37	11	3712607	3712607	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	36	5	.	.	ENST00000324932.7:c.4424G>A	p.Cys1475Tyr	p.C1475Y	ENST00000324932	NM_139132.3	1475	tGc/tAc	0	1		UPI00015DFF4D	0	getma.org/pdb.php?prot=NUP98_HUMAN&from=1329&to=1628&var=C1492Y	ENST00000359171		ENSG00000110713	8068		41	2.585		HGNC	p.C1475Y		NUP98		SNV							ENST00000355260	protein_coding	getma.org/?cm=var&var=hg19,11,3712607,C,T&fts=all		hmmpanther:PTHR23198:SF0,hmmpanther:PTHR23198,Pfam_domain:PF12110		C/Y		T	medium	4845/6770		getma.org/?cm=msa&ty=f&p=NUP98_HUMAN&rb=1329&re=1628&var=C1492Y	deleterious(0)	Q9HDC8_HUMAN,J3KP29_HUMAN				NUP98,missense_variant,p.Cys1475Tyr,ENST00000324932,NM_139132.3,NM_016320.4;NUP98,missense_variant,p.Cys1475Tyr,ENST00000359171,;NUP98,missense_variant,p.Cys1475Tyr,ENST00000355260,;NUP98,missense_variant,p.Cys428Tyr,ENST00000429801,;snoU13,upstream_gene_variant,,ENST00000458786,;NUP98,downstream_gene_variant,,ENST00000488828,;NUP98,missense_variant,p.Cys123Tyr,ENST00000524563,;NUP98,downstream_gene_variant,,ENST00000529063,;NUP98,downstream_gene_variant,,ENST00000530345,;							MODERATE	4424/4917	C1492Y				Transcript		possibly_damaging(0.859)	.	ENSP00000352091					1	
KLKB1	0	LGGM	GRCh37	4	187177192	187177192	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	15	5	.	.	ENST00000264690.6:c.1536A>G	p.Thr512=	p.T512=	ENST00000264690	NM_000892.3	512	acA/acG	0	1	1	UPI000050EC06	0		ENST00000264690		ENSG00000164344	6371		20			HGNC	p.T512T		KLKB1		SNV			1				ENST00000513864	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF74,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,Superfamily_domains:SSF50494		T		G		1723/2363				C9JCT1_HUMAN,C9J075_HUMAN,C9IYG8_HUMAN			YES	KLKB1,synonymous_variant,p.=,ENST00000264690,NM_000892.3;KLKB1,synonymous_variant,p.=,ENST00000511608,;KLKB1,synonymous_variant,p.=,ENST00000513864,;KLKB1,non_coding_transcript_exon_variant,,ENST00000511406,;KLKB1,downstream_gene_variant,,ENST00000467271,;							LOW	1536/1917		KLKB1_HUMAN			Transcript			.	ENSP00000264690		CCDS34120.1			1	
PCLO	0	LGGM	GRCh37	7	82764869	82764869	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	24	5	.	.	ENST00000333891.9:c.1997T>C	p.Val666Ala	p.V666A	ENST00000333891	NM_033026.5	666	gTt/gCt	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		29	-0.255		HGNC	p.V666A	rs372896273	PCLO		SNV	G:0		1				ENST00000423517	protein_coding	getma.org/?cm=var&var=hg19,7,82764869,A,G&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		V/A	G:0.0001	G	neutral	2335/20329	3.02E-05	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=593&re=792&var=V612A					YES	PCLO,missense_variant,p.Val666Ala,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Val666Ala,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000461143,;							MODERATE	1997/15429	V612A	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319	1.65E-05	CCDS47630.1			1	
L3MBTL1	0	LGGM	GRCh37	20	42157994	42157994	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	14	5	.	.	ENST00000427442.2:c.976C>G	p.Leu326Val	p.L326V	ENST00000427442		326	Ctc/Gtc	0	1	1	UPI0001E18E26	0	getma.org/pdb.php?prot=LMBL1_HUMAN&from=242&to=314&var=L258V	ENST00000427442		ENSG00000185513	15905		19	1.765		HGNC	p.L258V		L3MBTL1		SNV							ENST00000373134	protein_coding	getma.org/?cm=var&var=hg19,20,42157994,C,G&fts=all		Gene3D:2.30.30.160,Pfam_domain:PF02820,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69,SMART_domains:SM00561,Superfamily_domains:SSF63748		L/V		G	low	1135/3157		getma.org/?cm=msa&ty=f&p=LMBL1_HUMAN&rb=242&re=314&var=L258V	deleterious(0.02)	B0QYN5_HUMAN,B0QYN4_HUMAN			YES	L3MBTL1,missense_variant,p.Leu44Val,ENST00000422861,;L3MBTL1,missense_variant,p.Leu258Val,ENST00000444063,;L3MBTL1,missense_variant,p.Leu258Val,ENST00000373135,NM_015478.6;L3MBTL1,missense_variant,p.Leu326Val,ENST00000427442,;L3MBTL1,missense_variant,p.Leu326Val,ENST00000418998,NM_032107.4;L3MBTL1,missense_variant,p.Leu258Val,ENST00000373134,;L3MBTL1,downstream_gene_variant,,ENST00000457824,;L3MBTL1,intron_variant,,ENST00000485334,;L3MBTL1,upstream_gene_variant,,ENST00000373133,;L3MBTL1,downstream_gene_variant,,ENST00000430781,;L3MBTL1,upstream_gene_variant,,ENST00000445228,;L3MBTL1,upstream_gene_variant,,ENST00000497347,;							MODERATE	976/2523	L258V	LMBL1_HUMAN			Transcript		possibly_damaging(0.542)	.	ENSP00000402107		CCDS46602.2			1	
ARFGEF2	0	LGGM	GRCh37	20	47649704	47649704	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	32	6	.	.	ENST00000371917.4:c.5326C>T	p.Gln1776Ter	p.Q1776*	ENST00000371917	NM_006420.2	1776	Cag/Tag	0	1	1	UPI000013D378	0	NA	ENST00000371917		ENSG00000124198	15853		38	0		HGNC	p.Q1776X		ARFGEF2		SNV			1				ENST00000371917	protein_coding	getma.org/?cm=var&var=hg19,20,47649704,C,T&fts=all				Q/*		T	NA	5326/8852		NA		Q59FR3_HUMAN			YES	ARFGEF2,stop_gained,p.Gln1776Ter,ENST00000371917,NM_006420.2;							HIGH	5326/5358	Q1776*	BIG2_HUMAN			Transcript			.	ENSP00000360985		CCDS13411.1			1	
PTRH1	0	LGGM	GRCh37	9	130476907	130476907	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	11	6	.	.	ENST00000419060.1:c.391G>A	p.Ala131Thr	p.A131T	ENST00000419060		131	Gct/Act	0	1	1	UPI000000DB98	0	getma.org/pdb.php?prot=PTH_HUMAN&from=32&to=209&var=A131T	ENST00000419060		ENSG00000187024	27039		17	0.625		HGNC	p.A131T		PTRH1		SNV							ENST00000543175	protein_coding	getma.org/?cm=var&var=hg19,9,130476907,C,T&fts=all		hmmpanther:PTHR17224:SF1,hmmpanther:PTHR17224,Pfam_domain:PF01195,Gene3D:3.40.50.1470,Superfamily_domains:SSF53178		A/T		T	neutral	1848/2692		getma.org/?cm=msa&ty=f&p=PTH_HUMAN&rb=32&re=209&var=A131T	deleterious(0.01)				YES	PTRH1,missense_variant,p.Ala131Thr,ENST00000419060,;PTRH1,missense_variant,p.Ala131Thr,ENST00000423807,;PTRH1,missense_variant,p.Ala131Thr,ENST00000543175,NM_001002913.1;C9orf117,intron_variant,,ENST00000373293,;TTC16,upstream_gene_variant,,ENST00000373289,NM_144965.1;C9orf117,downstream_gene_variant,,ENST00000373295,NM_001012502.2;TTC16,upstream_gene_variant,,ENST00000393748,;C9orf117,non_coding_transcript_exon_variant,,ENST00000464092,;PTRH1,non_coding_transcript_exon_variant,,ENST00000456267,;PTRH1,non_coding_transcript_exon_variant,,ENST00000416214,;PTRH1,intron_variant,,ENST00000335223,;PTRH1,intron_variant,,ENST00000414832,;C9orf117,intron_variant,,ENST00000461104,;C9orf117,downstream_gene_variant,,ENST00000496009,;PTRH1,downstream_gene_variant,,ENST00000429848,;							MODERATE	391/645	A131T	PTH_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000418661		CCDS35147.1			1	
ADAMTS10	0	LGGM	GRCh37	19	8656886	8656886	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	8	6	.	.	ENST00000270328.4:c.1689T>C	p.Cys563=	p.C563=	ENST00000270328		563	tgT/tgC	0	1		UPI000013D883	0		ENST00000597188		ENSG00000142303	13201		14			HGNC	p.V54A		ADAMTS10		SNV			1				ENST00000595838	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895,Prints_domain:PR01857		C		G		1960/3749								ADAMTS10,missense_variant,p.Val54Ala,ENST00000595838,NM_001282352.1;ADAMTS10,synonymous_variant,p.=,ENST00000270328,;ADAMTS10,synonymous_variant,p.=,ENST00000597188,NM_030957.2;ADAMTS10,missense_variant,p.Val54Ala,ENST00000593826,;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,,ENST00000603221,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596236,;ADAMTS10,downstream_gene_variant,,ENST00000601872,;ADAMTS10,upstream_gene_variant,,ENST00000596911,;							LOW	1689/3312		ATS10_HUMAN			Transcript			.	ENSP00000471851		CCDS12206.1			1	
RLTPR	0	LGGM	GRCh37	16	67683020	67683020	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	12	6	.	.	ENST00000334583.6:c.1633A>G	p.Arg545Gly	p.R545G	ENST00000334583	NM_001013838.1	545	Aga/Gga	0	1	1	UPI00005194F2	0	NA	ENST00000334583		ENSG00000159753	27089		18	1.33		HGNC	p.R509G		RLTPR		SNV							ENST00000545661	protein_coding	getma.org/?cm=var&var=hg19,16,67683020,A,G&fts=all		Gene3D:3.80.10.10,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF41,Superfamily_domains:SSF52047		R/G		G	low	1961/4687		getma.org/?cm=msa&ty=f&p=LR16C_HUMAN&rb=401&re=600&var=R545G	deleterious(0)				YES	RLTPR,missense_variant,p.Arg545Gly,ENST00000334583,NM_001013838.1;RLTPR,missense_variant,p.Arg509Gly,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,;							MODERATE	1633/4308	R545G	LR16C_HUMAN			Transcript		benign(0.122)	.	ENSP00000334958		CCDS45513.1			1	
TP53	0	LGGM	GRCh37	17	7578191	7578191	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	14	6	.	.	ENST00000269305.4:c.658T>A	p.Tyr220Asn	p.Y220N	ENST00000269305	NM_001126112.2	220	Tat/Aat	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=Y220N	ENST00000269305		ENSG00000141510	11998		20	3.02		HGNC	p.Y220N	TP53_g.12727T>A,COSM44672,COSM1630416,COSM1630417,COSM1630419,COSM3773306,COSM1726886,COSM1630418	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7578191,A,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		Y/N		T	medium	848/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=Y220N	deleterious(0)	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			YES	TP53,missense_variant,p.Tyr220Asn,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Tyr220Asn,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Tyr220Asn,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Tyr220Asn,ENST00000445888,;TP53,missense_variant,p.Tyr220Asn,ENST00000359597,;TP53,missense_variant,p.Tyr220Asn,ENST00000413465,;TP53,missense_variant,p.Tyr88Asn,ENST00000509690,;TP53,missense_variant,p.Tyr127Asn,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,;					0,1,1,1,1,1,1,1		MODERATE	658/1182	Y220N	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
MORC1	0	LGGM	GRCh37	3	108812386	108812386	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	12	6	.	.	ENST00000232603.5:c.586A>G	p.Thr196Ala	p.T196A	ENST00000232603	NM_014429.3	196	Act/Gct	0	1	1	UPI000013C964	0	NA	ENST00000232603		ENSG00000114487	7198		18	3		HGNC	p.T196A		MORC1		SNV							ENST00000232603	protein_coding	getma.org/?cm=var&var=hg19,3,108812386,T,C&fts=all		hmmpanther:PTHR23337,hmmpanther:PTHR23337:SF6,Gene3D:3.30.565.10,Superfamily_domains:SSF55874		T/A		C	medium	669/3764		getma.org/?cm=msa&ty=f&p=MORC1_HUMAN&rb=163&re=362&var=T196A	deleterious(0.03)				YES	MORC1,missense_variant,p.Thr196Ala,ENST00000232603,NM_014429.3;MORC1,missense_variant,p.Thr196Ala,ENST00000483760,;							MODERATE	586/2955	T196A	MORC1_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000232603		CCDS2955.1			1	
PTRF	0	LGGM	GRCh37	17	40557097	40557097	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	27	6	.	.	ENST00000357037.5:c.781G>C	p.Glu261Gln	p.E261Q	ENST00000357037	NM_012232.5	261	Gaa/Caa	0	1	1	UPI00001AF3C2	0	NA	ENST00000357037		ENSG00000177469	9688		33	0.895		HGNC	p.E261Q		PTRF		SNV			1				ENST00000357037	protein_coding	getma.org/?cm=var&var=hg19,17,40557097,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR15240:SF3,hmmpanther:PTHR15240,Pfam_domain:PF15237		E/Q		G	low	1201/3828		getma.org/?cm=msa&ty=f&p=PTRF_HUMAN&rb=1&re=388&var=E261Q	tolerated(0.06)				YES	PTRF,missense_variant,p.Glu261Gln,ENST00000357037,NM_012232.5;							MODERATE	781/1173	E261Q	PTRF_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000349541		CCDS11425.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102476308	102476308	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	39	6	.	.	ENST00000360184.4:c.6106T>C	p.Phe2036Leu	p.F2036L	ENST00000360184	NM_001376.4	2036	Ttc/Ctc	0	1	1	UPI00001B515A	0	getma.org/pdb.php?prot=DYHC1_HUMAN&from=1868&to=2107&var=F2036L	ENST00000360184		ENSG00000197102	2961		45	2.875		HGNC	p.F2036L		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102476308,T,C&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676,Pfam_domain:PF12774,SMART_domains:SM00382,Superfamily_domains:SSF52540		F/L		C	medium	6270/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=1868&re=2107&var=F2036L		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Phe2036Leu,ENST00000360184,NM_001376.4;							MODERATE	6106/13941	F2036L	DYHC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348965		CCDS9966.1			1	
LAMB3	0	LGGM	GRCh37	1	209800808	209800808	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	26	6	.	.	ENST00000391911.1:c.1405C>T	p.His469Tyr	p.H469Y	ENST00000391911	NM_001017402.1	469	Cac/Tac	0	1		UPI000012E76F	0	getma.org/pdb.php?prot=LAMB3_HUMAN&from=431&to=478&var=H469Y	ENST00000356082		ENSG00000196878	6490		32	-0.08		HGNC	p.H469Y		LAMB3		SNV			1				ENST00000367030	protein_coding	getma.org/?cm=var&var=hg19,1,209800808,G,A&fts=all		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		H/Y		A	neutral	1540/4055		getma.org/?cm=msa&ty=f&p=LAMB3_HUMAN&rb=431&re=478&var=H469Y	tolerated(0.37)	Q5THA1_HUMAN				LAMB3,missense_variant,p.His469Tyr,ENST00000391911,NM_001017402.1;LAMB3,missense_variant,p.His469Tyr,ENST00000356082,NM_000228.2;LAMB3,missense_variant,p.His469Tyr,ENST00000367030,NM_001127641.1;MIR4260,upstream_gene_variant,,ENST00000583107,;							MODERATE	1405/3519	H469Y	LAMB3_HUMAN			Transcript		benign(0.02)	.	ENSP00000348384		CCDS1487.1			1	
POLR1A	0	LGGM	GRCh37	2	86267590	86267590	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	10	6	.	.	ENST00000263857.6:c.3665C>T	p.Pro1222Leu	p.P1222L	ENST00000263857		1222	cCc/cTc	0	1	1	UPI0000D7DB86	0	getma.org/pdb.php?prot=RPA1_HUMAN&from=958&to=1672&var=P1222L	ENST00000263857		ENSG00000068654	17264		16	4.135		HGNC	p.P1222L		POLR1A		SNV			1				ENST00000263857	protein_coding	getma.org/?cm=var&var=hg19,2,86267590,G,A&fts=all		hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF11,Pfam_domain:PF04998,Superfamily_domains:SSF64484		P/L		A	high	4044/12749		getma.org/?cm=msa&ty=f&p=RPA1_HUMAN&rb=958&re=1672&var=P1222L	deleterious(0)	Q96AG9_HUMAN,Q53T12_HUMAN,B7Z8X7_HUMAN			YES	POLR1A,missense_variant,p.Pro1222Leu,ENST00000263857,;POLR1A,missense_variant,p.Pro1222Leu,ENST00000409681,NM_015425.3;POLR1A,non_coding_transcript_exon_variant,,ENST00000462078,;POLR1A,upstream_gene_variant,,ENST00000492034,;POLR1A,upstream_gene_variant,,ENST00000496892,;							MODERATE	3665/5163	P1222L	RPA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263857		CCDS42706.1			1	
HOXA10	0	LGGM	GRCh37	7	27213888	27213888	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	17	6	.	.	ENST00000283921.4:c.38A>T	p.Asn13Ile	p.N13I	ENST00000283921	NM_018951.3	13	aAt/aTt	0	1	1	UPI0000EE42DA	0	NA	ENST00000283921		ENSG00000253293	5100		23	0.69		HGNC	p.N13I		HOXA10		SNV							ENST00000283921	protein_coding	getma.org/?cm=var&var=hg19,7,27213888,T,A&fts=all		PROSITE_profiles:PS51257		N/I		A	neutral	38/2541		getma.org/?cm=msa&ty=f&p=HXA10_HUMAN&rb=1&re=50&var=N13I	deleterious(0)				YES	HOXA10,missense_variant,p.Asn13Ile,ENST00000283921,NM_018951.3;HOXA10,intron_variant,,ENST00000396344,;RP1-170O19.20,intron_variant,,ENST00000470747,;MIR196B,upstream_gene_variant,,ENST00000384852,;HOXA10-AS,downstream_gene_variant,,ENST00000519935,;HOXA10-AS,downstream_gene_variant,,ENST00000523790,;HOXA10-AS,downstream_gene_variant,,ENST00000519694,;RP1-170O19.20,intron_variant,,ENST00000465941,;HOXA9,upstream_gene_variant,,ENST00000497089,;HOXA10,upstream_gene_variant,,ENST00000521421,;HOXA10,upstream_gene_variant,,ENST00000524368,;HOXA10,upstream_gene_variant,,ENST00000519593,;HOXA9,upstream_gene_variant,,ENST00000487384,;HOXA9,upstream_gene_variant,,ENST00000489695,;							MODERATE	38/1233	N13I	HXA10_HUMAN			Transcript		benign(0.159)	.	ENSP00000283921		CCDS5410.2			1	
PTPRO	0	LGGM	GRCh37	12	15722431	15722431	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	31	6	.	.	ENST00000281171.4:c.2828A>G	p.Glu943Gly	p.E943G	ENST00000281171	NM_030667.2	943	gAg/gGg	0	1	1	UPI000013DC62	0	getma.org/pdb.php?prot=PTPRO_HUMAN&from=938&to=1195&var=E943G	ENST00000281171		ENSG00000151490	9678		37	2.49		HGNC	p.E943G		PTPRO		SNV			1				ENST00000281171	protein_coding	getma.org/?cm=var&var=hg19,12,15722431,A,G&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		E/G		G	medium	3158/5301		getma.org/?cm=msa&ty=f&p=PTPRO_HUMAN&rb=938&re=1195&var=E943G	deleterious(0)	B4DS16_HUMAN			YES	PTPRO,missense_variant,p.Glu943Gly,ENST00000281171,NM_030667.2;PTPRO,missense_variant,p.Glu915Gly,ENST00000348962,NM_002848.3;PTPRO,missense_variant,p.Glu132Gly,ENST00000445537,NM_030671.2;PTPRO,missense_variant,p.Glu104Gly,ENST00000544244,NM_030670.2;PTPRO,missense_variant,p.Glu132Gly,ENST00000442921,NM_030669.2;PTPRO,missense_variant,p.Glu104Gly,ENST00000542557,NM_030668.2;PTPRO,splice_region_variant,,ENST00000538907,;PTPRO,splice_region_variant,,ENST00000535311,;							MODERATE	2828/3651	E943G	PTPRO_HUMAN			Transcript		benign(0.27)	.	ENSP00000281171		CCDS8675.1			1	
PTCHD2	0	LGGM	GRCh37	1	11579780	11579780	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	39	6	.	.	ENST00000294484.6:c.2043A>T	p.Ser681=	p.S681=	ENST00000294484	NM_020780.1	681	tcA/tcT	0	1	1	UPI00001C1D7A	0		ENST00000294484		ENSG00000204624	29251		45			HGNC	p.S681S		PTCHD2		SNV							ENST00000294484	protein_coding			Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF49,Low_complexity_(Seg):seg		S		T		2181/5215							YES	PTCHD2,synonymous_variant,p.=,ENST00000294484,NM_020780.1;PTCHD2,synonymous_variant,p.=,ENST00000389575,;							LOW	2043/4179		PTHD2_HUMAN			Transcript			.	ENSP00000294484		CCDS41247.1			1	
MS4A1	0	LGGM	GRCh37	11	60231760	60231760	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	10	7	.	.	ENST00000534668.1:c.280-1G>A		p.X94_splice	ENST00000534668	NM_152866.2			0	1		UPI000012733B	0		ENST00000345732		ENSG00000156738	7315		17			HGNC	-		MS4A1		SNV			1				ENST00000345732	protein_coding							A		-/3331								MS4A1,splice_acceptor_variant,,ENST00000534668,NM_152866.2;MS4A1,splice_acceptor_variant,,ENST00000389939,;MS4A1,splice_acceptor_variant,,ENST00000345732,NM_021950.3;MS4A1,splice_acceptor_variant,,ENST00000532073,;MS4A1,splice_acceptor_variant,,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,;							HIGH	280/894		CD20_HUMAN			Transcript			.	ENSP00000314620		CCDS31570.1			1	
NFATC2	0	LGGM	GRCh37	20	50139790	50139790	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	15	7	.	.	ENST00000396009.3:c.990G>T	p.Ser330=	p.S330=	ENST00000396009	NM_001258297.1	330	tcG/tcT	0	1	1	UPI0000167D0F	0		ENST00000396009		ENSG00000101096	7776		22			HGNC	p.S330S		NFATC2		SNV							ENST00000396009	protein_coding			hmmpanther:PTHR12533:SF4,hmmpanther:PTHR12533,Low_complexity_(Seg):seg		S		A		1210/7437				B5B2P4_HUMAN,B5B2P3_HUMAN			YES	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,synonymous_variant,p.=,ENST00000610033,;NFATC2,synonymous_variant,p.=,ENST00000609507,NM_001258294.1;							LOW	990/2778		NFAC2_HUMAN			Transcript			.	ENSP00000379330		CCDS13437.1			1	
SHPRH	0	LGGM	GRCh37	6	146261892	146261892	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	14	7	.	.	ENST00000367505.2:c.2536A>G	p.Ile846Val	p.I846V	ENST00000367505		846	Atc/Gtc	0	1		UPI0000458A24	0	getma.org/pdb.php?prot=SHPRH_HUMAN&from=307&to=987&var=I846V	ENST00000275233		ENSG00000146414	19336		21	-1.22		HGNC	p.I735V		SHPRH		SNV							ENST00000519632	protein_coding	getma.org/?cm=var&var=hg19,6,146261892,T,C&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540		I/V		C	neutral	2935/6649		getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=307&re=987&var=I846V	tolerated(1)					SHPRH,missense_variant,p.Ile846Val,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Ile846Val,ENST00000367505,;SHPRH,missense_variant,p.Ile846Val,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Ile846Val,ENST00000275233,;SHPRH,missense_variant,p.Ile735Val,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;SHPRH,upstream_gene_variant,,ENST00000520752,;							MODERATE	2536/5052	I846V	SHPRH_HUMAN			Transcript		benign(0.004)	.	ENSP00000275233		CCDS43513.2			1	
ADAMTSL3	0	LGGM	GRCh37	15	84683369	84683369	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	36	7	.	.	ENST00000286744.5:c.4049G>A	p.Gly1350Glu	p.G1350E	ENST00000286744	NM_207517.2	1350	gGa/gAa	0	1	1	UPI00001615A5	0	getma.org/pdb.php?prot=ATL3_HUMAN&from=1307&to=1384&var=G1350E	ENST00000286744		ENSG00000156218	14633		43	2.075		HGNC	p.G1350E		ADAMTSL3		SNV							ENST00000286744	protein_coding	getma.org/?cm=var&var=hg19,15,84683369,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/E		A	medium	4273/7336		getma.org/?cm=msa&ty=f&p=ATL3_HUMAN&rb=1307&re=1384&var=G1350E	deleterious(0.01)				YES	ADAMTSL3,missense_variant,p.Gly1350Glu,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Gly1350Glu,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;							MODERATE	4049/5076	G1350E	ATL3_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000286744		CCDS10326.1			1	
LRP1	0	LGGM	GRCh37	12	57578135	57578135	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	16	7	.	.	ENST00000243077.3:c.6086A>C	p.Gln2029Pro	p.Q2029P	ENST00000243077	NM_002332.2	2029	cAg/cCg	0	1	1	UPI00001B044F	0	getma.org/pdb.php?prot=LRP1_HUMAN&from=2020&to=2061&var=Q2029P	ENST00000243077		ENSG00000123384	6692		23	2.18		HGNC	p.Q2029P		LRP1		SNV							ENST00000243077	protein_coding	getma.org/?cm=var&var=hg19,12,57578135,A,C&fts=all		Gene3D:2.120.10.30,Pfam_domain:PF00058,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF100,SMART_domains:SM00135,Superfamily_domains:SSF63825		Q/P		C	medium	6552/14897		getma.org/?cm=msa&ty=f&p=LRP1_HUMAN&rb=2020&re=2061&var=Q2029P		Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,missense_variant,p.Gln2029Pro,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000554118,;							MODERATE	6086/13635	Q2029P	LRP1_HUMAN			Transcript		possibly_damaging(0.744)	.	ENSP00000243077		CCDS8932.1			1	
PCNXL2	0	LGGM	GRCh37	1	233275516	233275516	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	74	7	.	.	ENST00000258229.9:c.3603G>C	p.Leu1201Phe	p.L1201F	ENST00000258229	NM_014801.3	1201	ttG/ttC	0	1	1	UPI0000F58F23	0	NA	ENST00000258229		ENSG00000135749	8736		81	2.705		HGNC	p.L37F		PCNXL2		SNV							ENST00000484347	protein_coding	getma.org/?cm=var&var=hg19,1,233275516,C,G&fts=all		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF5,Transmembrane_helices:TMhelix		L/F		G	medium	3838/7518		getma.org/?cm=msa&ty=f&p=PCX2_HUMAN&rb=1040&re=1239&var=L1201F	deleterious(0)	B3KNZ5_HUMAN			YES	PCNXL2,missense_variant,p.Leu1201Phe,ENST00000258229,NM_014801.3;PCNXL2,missense_variant,p.Leu334Phe,ENST00000488780,;PCNXL2,missense_variant,p.Leu37Phe,ENST00000484347,;PCNXL2,non_coding_transcript_exon_variant,,ENST00000520463,;PCNXL2,downstream_gene_variant,,ENST00000467336,;PCNXL2,downstream_gene_variant,,ENST00000496510,;PCNXL2,missense_variant,p.Leu223Phe,ENST00000462233,;PCNXL2,missense_variant,p.Leu23Phe,ENST00000490102,;PCNXL2,3_prime_UTR_variant,,ENST00000475463,;PCNXL2,3_prime_UTR_variant,,ENST00000486012,;PCNXL2,upstream_gene_variant,,ENST00000484041,;							MODERATE	3603/6414	L1201F	PCX2_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000258229		CCDS44335.1			1	
DRD1	0	LGGM	GRCh37	5	174869963	174869963	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	49	7	.	.	ENST00000393752.2:c.140C>T	p.Ala47Val	p.A47V	ENST00000393752	NM_000794.3	47	gCc/gTc	0	1	1	UPI00000503F5	0	getma.org/pdb.php?prot=DRD1_HUMAN&from=40&to=331&var=A47V	ENST00000393752		ENSG00000184845	3020		56	2.73		HGNC	p.A47V		DRD1		SNV							ENST00000329144	protein_coding	getma.org/?cm=var&var=hg19,5,174869963,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,Prints_domain:PR00242,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF221,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/V		A	medium	1133/4054		getma.org/?cm=msa&ty=f&p=DRD1_HUMAN&rb=40&re=331&var=A47V	deleterious(0)				YES	DRD1,missense_variant,p.Ala47Val,ENST00000393752,NM_000794.3;							MODERATE	140/1341	A47V	DRD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377353		CCDS4393.1			1	
SF3B2	0	LGGM	GRCh37	11	65820542	65820542	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	48	7	.	.	ENST00000322535.6:c.225G>A	p.Gly75=	p.G75=	ENST00000322535	NM_006842.2	75	ggG/ggA	0	1	1	UPI00001C1F20	0		ENST00000322535		ENSG00000087365	10769		55			HGNC	p.G75G		SF3B2		SNV							ENST00000528302	protein_coding					G		A		274/2903				E9PIL8_HUMAN			YES	SF3B2,synonymous_variant,p.=,ENST00000528302,;SF3B2,synonymous_variant,p.=,ENST00000322535,NM_006842.2;SF3B2,synonymous_variant,p.=,ENST00000530322,;SF3B2,synonymous_variant,p.=,ENST00000533595,;SF3B2,synonymous_variant,p.=,ENST00000524627,;SF3B2,5_prime_UTR_variant,,ENST00000524475,;GAL3ST3,upstream_gene_variant,,ENST00000312006,NM_033036.2;snoU13,upstream_gene_variant,,ENST00000459530,;SF3B2,non_coding_transcript_exon_variant,,ENST00000533421,;SF3B2,downstream_gene_variant,,ENST00000534307,;SF3B2,downstream_gene_variant,,ENST00000529577,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531041,;SF3B2,non_coding_transcript_exon_variant,,ENST00000531589,;GAL3ST3,upstream_gene_variant,,ENST00000527048,;SF3B2,upstream_gene_variant,,ENST00000525207,;SF3B2,upstream_gene_variant,,ENST00000526653,;							LOW	225/2688		SF3B2_HUMAN			Transcript			.	ENSP00000318861		CCDS31612.1			1	
ZNF556	0	LGGM	GRCh37	19	2877346	2877346	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	29	7	.	.	ENST00000307635.2:c.390A>T	p.Arg130=	p.R130=	ENST00000307635	NM_024967.1	130	cgA/cgT	0	1	1	UPI000006DA0F	0		ENST00000307635		ENSG00000172000	25669		36			HGNC	p.R129R		ZNF556		SNV							ENST00000586426	protein_coding			hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF142		R		T		477/1632							YES	ZNF556,synonymous_variant,p.=,ENST00000586426,;ZNF556,synonymous_variant,p.=,ENST00000307635,NM_024967.1;AC006130.1,upstream_gene_variant,,ENST00000579582,;ZNF556,3_prime_UTR_variant,,ENST00000586470,;AC006130.4,upstream_gene_variant,,ENST00000586202,;							LOW	390/1371		ZN556_HUMAN			Transcript			.	ENSP00000302603		CCDS12097.1			1	
WNK2	0	LGGM	GRCh37	9	96080350	96080350	+	3_prime_UTR_variant	3'UTR	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	52	7	.	.	ENST00000297954.4:c.*41T>A		*14*	ENST00000297954	NM_001282394.1			0	1	1	UPI0000236D76	0		ENST00000297954		ENSG00000165238	14542		59			HGNC	p.Y1835X		WNK2		SNV							ENST00000427277	protein_coding							A		6935/7138							YES	WNK2,stop_gained,p.Tyr2219Ter,ENST00000432730,;WNK2,stop_gained,p.Tyr1835Ter,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,;							MODIFIER	-/6894		WNK2_HUMAN			Transcript			.	ENSP00000297954					1	
GRIA1	0	LGGM	GRCh37	5	153174265	153174265	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	39	8	.	.	ENST00000518783.1:c.2385C>T	p.Gly795=	p.G795=	ENST00000518783	NM_001258021.1	795	ggC/ggT	0	1		UPI000013DE17	0		ENST00000285900		ENSG00000155511	4571		47			HGNC	p.G718G		GRIA1		SNV							ENST00000521843	protein_coding			Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,Low_complexity_(Seg):seg,Superfamily_domains:SSF53850		G		T		2698/5708								GRIA1,synonymous_variant,p.=,ENST00000285900,NM_000827.3,NM_001258019.1;GRIA1,synonymous_variant,p.=,ENST00000518783,NM_001258021.1;GRIA1,synonymous_variant,p.=,ENST00000521843,NM_001258023.1;GRIA1,synonymous_variant,p.=,ENST00000518142,;GRIA1,intron_variant,,ENST00000340592,NM_001258020.1,NM_001114183.1;GRIA1,intron_variant,,ENST00000448073,NM_001258022.1;							LOW	2355/2721		GRIA1_HUMAN			Transcript			.	ENSP00000285900		CCDS4322.1			1	
C14orf37	0	LGGM	GRCh37	14	58471860	58471860	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	38	8	.	.	ENST00000267485.7:c.2162G>T	p.Gly721Val	p.G721V	ENST00000267485	NM_001001872.2	721	gGg/gTg	0	1	1	UPI000000CC37	0	NA	ENST00000267485		ENSG00000139971	19846		46	1.795		HGNC	p.G721V		C14orf37		SNV							ENST00000267485	protein_coding	getma.org/?cm=var&var=hg19,14,58471860,C,A&fts=all		hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Transmembrane_helices:TMhelix		G/V		A	low	2357/6495		getma.org/?cm=msa&ty=f&p=CN037_HUMAN&rb=7&re=772&var=G721V	deleterious(0)				YES	C14orf37,missense_variant,p.Gly721Val,ENST00000267485,NM_001001872.2;C14orf37,upstream_gene_variant,,ENST00000556788,;							MODERATE	2162/2325	G721V	CN037_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000267485		CCDS32089.1			1	
CLEC4F	0	LGGM	GRCh37	2	71043598	71043598	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	35	8	.	.	ENST00000272367.2:c.915T>C	p.Phe305=	p.F305=	ENST00000272367	NM_001258027.1	305	ttT/ttC	0	1	1	UPI0000376BCC	0		ENST00000272367		ENSG00000152672	25357		43			HGNC	p.F305F		CLEC4F		SNV							ENST00000426626	protein_coding			hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195		F		G		992/2475							YES	CLEC4F,synonymous_variant,p.=,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,synonymous_variant,p.=,ENST00000426626,;AC007395.4,upstream_gene_variant,,ENST00000451333,;							LOW	915/1770		CLC4F_HUMAN			Transcript			.	ENSP00000272367		CCDS1910.1			1	
ANK2	0	LGGM	GRCh37	4	114277867	114277867	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	35	8	.	.	ENST00000357077.4:c.8093G>T	p.Ser2698Ile	p.S2698I	ENST00000357077	NM_001148.4	2698	aGc/aTc	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		43	1.935		HGNC	p.S2665I		ANK2		SNV			1				ENST00000264366	protein_coding	getma.org/?cm=var&var=hg19,4,114277867,G,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,Low_complexity_(Seg):seg		S/I		T	medium	8146/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=1998&re=3536&var=S2698I		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Ser2698Ile,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Ser2665Ile,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,;							MODERATE	8093/11874	S2698I	ANK2_HUMAN			Transcript		probably_damaging(0.921)	.	ENSP00000349588		CCDS3702.1			1	
ZNF451	0	LGGM	GRCh37	6	56966578	56966578	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	30	8	.	.	ENST00000370706.4:c.186+2639A>G		*62*	ENST00000370706	NM_001031623.2			0	1	1	UPI000004A571	0	NA	ENST00000370706		ENSG00000112200	21091		38	0		HGNC	p.Y455C	COSM1634887	ZNF451		SNV						1	ENST00000370708	protein_coding	getma.org/?cm=var&var=hg19,6,56966578,A,G&fts=all						G	neutral	-/5268		getma.org/?cm=msa&ty=f&p=B4DYS2_HUMAN&rb=344&re=457&var=Y455C		Q96JY2_HUMAN,D6RAV4_HUMAN			YES	ZNF451,missense_variant,p.Tyr455Cys,ENST00000370708,NM_001257273.1;ZNF451,intron_variant,,ENST00000370706,NM_001031623.2;ZNF451,intron_variant,,ENST00000357489,NM_015555.2;ZNF451,intron_variant,,ENST00000491832,;ZNF451,intron_variant,,ENST00000510483,;ZNF451,intron_variant,,ENST00000515290,;ZNF451,intron_variant,,ENST00000370702,;ZNF451,downstream_gene_variant,,ENST00000508603,;ZNF451,downstream_gene_variant,,ENST00000370710,;ZNF451,intron_variant,,ENST00000509071,;ZNF451,downstream_gene_variant,,ENST00000510989,;ZNF451,upstream_gene_variant,,ENST00000509251,;ZNF451,intron_variant,,ENST00000444273,;ZNF451,intron_variant,,ENST00000502749,;ZNF451,intron_variant,,ENST00000370711,;ZNF451,intron_variant,,ENST00000504603,;					1		MODIFIER	-/3186	Y455C	ZN451_HUMAN			Transcript			.	ENSP00000359740		CCDS43477.1			1	
LIX1	0	LGGM	GRCh37	5	96460328	96460328	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	17	8	.	.	ENST00000274382.4:c.88G>A	p.Val30Ile	p.V30I	ENST00000274382	NM_153234.4	30	Gtt/Att	0	1	1	UPI000007388A	0	NA	ENST00000274382		ENSG00000145721	18581	8.66E-05	25	2.14		HGNC	p.V6I	rs769558664	LIX1		SNV							ENST00000512378	protein_coding	getma.org/?cm=var&var=hg19,5,96460328,C,T&fts=all		hmmpanther:PTHR31139,Pfam_domain:PF14954		V/I		T	medium	384/4023		getma.org/?cm=msa&ty=f&p=LIX1_HUMAN&rb=1&re=281&var=V30I	deleterious(0.01)				YES	LIX1,missense_variant,p.Val30Ile,ENST00000274382,NM_153234.4;LIX1,missense_variant,p.Val6Ile,ENST00000512378,;CTD-2215E18.1,intron_variant,,ENST00000509481,;	0.000116						MODERATE	88/849	V30I	LIX1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000274382	1.65E-05	CCDS4088.1			1	
C14orf37	0	LGGM	GRCh37	14	58471867	58471867	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	37	8	.	.	ENST00000267485.7:c.2155G>T	p.Gly719Trp	p.G719W	ENST00000267485	NM_001001872.2	719	Ggg/Tgg	0	1	1	UPI000000CC37	0	NA	ENST00000267485		ENSG00000139971	19846		45	1.795		HGNC	p.G719W		C14orf37		SNV							ENST00000267485	protein_coding	getma.org/?cm=var&var=hg19,14,58471867,C,A&fts=all		hmmpanther:PTHR21585,hmmpanther:PTHR21585:SF0,Transmembrane_helices:TMhelix		G/W		A	low	2350/6495		getma.org/?cm=msa&ty=f&p=CN037_HUMAN&rb=7&re=772&var=G719W	deleterious(0)				YES	C14orf37,missense_variant,p.Gly719Trp,ENST00000267485,NM_001001872.2;C14orf37,upstream_gene_variant,,ENST00000556788,;							MODERATE	2155/2325	G719W	CN037_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000267485		CCDS32089.1			1	
R3HCC1L	0	LGGM	GRCh37	10	99969164	99969164	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	28	8	.	.	ENST00000298999.3:c.1293G>A	p.Gly431=	p.G431=	ENST00000298999	NM_014472.4	431	ggG/ggA	0	1	1	UPI00001F94F0	0		ENST00000298999		ENSG00000166024	23512		36			HGNC	p.G431G		R3HCC1L		SNV							ENST00000298999	protein_coding			hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF2		G		A		1596/3379							YES	R3HCC1L,synonymous_variant,p.=,ENST00000298999,NM_014472.4;R3HCC1L,synonymous_variant,p.=,ENST00000370584,NM_001256620.1,NM_138469.2;R3HCC1L,5_prime_UTR_variant,,ENST00000314594,NM_001256619.1;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;							LOW	1293/2337		R3HCL_HUMAN			Transcript			.	ENSP00000298999		CCDS31267.1			1	
OR8I2	0	LGGM	GRCh37	11	55861246	55861246	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	71	9	.	.	ENST00000302124.2:c.463A>T	p.Ser155Cys	p.S155C	ENST00000302124	NM_001003750.1	155	Agc/Tgc	0	1	1	UPI0000041D16	0	NA	ENST00000302124		ENSG00000172154	15310		80	0.935		HGNC	p.S155C		OR8I2		SNV							ENST00000560768	protein_coding	getma.org/?cm=var&var=hg19,11,55861246,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF207,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/C		T	low	494/1010		getma.org/?cm=msa&ty=f&p=OR8I2_HUMAN&rb=139&re=282&var=S155C	deleterious(0.04)	H0YLY8_HUMAN			YES	OR8I2,missense_variant,p.Ser155Cys,ENST00000302124,NM_001003750.1;OR8I4P,downstream_gene_variant,,ENST00000526965,;							MODERATE	463/933	S155C	OR8I2_HUMAN			Transcript		benign(0.069)	.	ENSP00000303864		CCDS31517.1			1	
OSTM1	0	LGGM	GRCh37	6	108370507	108370507	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	37	9	.	.	ENST00000193322.3:c.899A>G	p.Tyr300Cys	p.Y300C	ENST00000193322	NM_014028.3	300	tAc/tGc	0	1	1	UPI00000472C4	0	NA	ENST00000193322		ENSG00000081087	21652		46	2.785		HGNC	p.Y300C		OSTM1		SNV			1				ENST00000193322	protein_coding	getma.org/?cm=var&var=hg19,6,108370507,T,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR15644:SF1,hmmpanther:PTHR15644,Pfam_domain:PF09777		Y/C		C	medium	985/4467		getma.org/?cm=msa&ty=f&p=OSTM1_HUMAN&rb=84&re=330&var=Y300C	deleterious(0)	E5RFY7_HUMAN			YES	OSTM1,missense_variant,p.Tyr300Cys,ENST00000193322,NM_014028.3;OSTM1,missense_variant,p.Tyr153Cys,ENST00000440575,;OSTM1,non_coding_transcript_exon_variant,,ENST00000472669,;OSTM1,non_coding_transcript_exon_variant,,ENST00000477774,;							MODERATE	899/1005	Y300C	OSTM1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000193322		CCDS5062.1			1	
HDLBP	0	LGGM	GRCh37	2	242179464	242179464	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	67	9	.	.	ENST00000391975.1:c.2243G>A	p.Gly748Asp	p.G748D	ENST00000391975	NM_203346.3	748	gGc/gAc	0	1	1	UPI00001AEF85	0	getma.org/pdb.php?prot=VIGLN_HUMAN&from=729&to=790&var=G748D	ENST00000391975		ENSG00000115677	4857		76	1.79		HGNC	p.G748D	COSM390927	HDLBP		SNV						1	ENST00000310931	protein_coding	getma.org/?cm=var&var=hg19,2,242179464,C,T&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50084,hmmpanther:PTHR10627:SF34,hmmpanther:PTHR10627,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		G/D		T	low	2471/6372		getma.org/?cm=msa&ty=f&p=VIGLN_HUMAN&rb=729&re=790&var=G748D	deleterious(0)	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			YES	HDLBP,missense_variant,p.Gly748Asp,ENST00000391975,NM_203346.3;HDLBP,missense_variant,p.Gly748Asp,ENST00000310931,NM_005336.4;HDLBP,missense_variant,p.Gly748Asp,ENST00000391976,;HDLBP,missense_variant,p.Gly715Asp,ENST00000427183,NM_001243900.1;HDLBP,missense_variant,p.Gly557Asp,ENST00000373292,;HDLBP,missense_variant,p.Gly150Asp,ENST00000427487,;HDLBP,missense_variant,p.Gly257Asp,ENST00000452931,;HDLBP,non_coding_transcript_exon_variant,,ENST00000471294,;HDLBP,upstream_gene_variant,,ENST00000470482,;HDLBP,upstream_gene_variant,,ENST00000483086,;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000479169,;HDLBP,non_coding_transcript_exon_variant,,ENST00000459788,;HDLBP,upstream_gene_variant,,ENST00000479894,;					1		MODERATE	2243/3807	G748D	VIGLN_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000375836		CCDS2547.1			1	
BDP1	0	LGGM	GRCh37	5	70782451	70782451	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	12	9	.	.	ENST00000358731.4:c.1210A>G	p.Lys404Glu	p.K404E	ENST00000358731	NM_018429.2	404	Aaa/Gaa	0	1	1	UPI000020CA90	0	NA	ENST00000358731		ENSG00000145734	13652		21	1.87		HGNC	p.K404E		BDP1		SNV							ENST00000358731	protein_coding	getma.org/?cm=var&var=hg19,5,70782451,A,G&fts=all		hmmpanther:PTHR22929:SF0,hmmpanther:PTHR22929		K/E		G	low	1473/11073		getma.org/?cm=msa&ty=f&p=BDP1_HUMAN&rb=376&re=2622&var=K404E	deleterious(0.01)				YES	BDP1,missense_variant,p.Lys404Glu,ENST00000358731,NM_018429.2;BDP1,5_prime_UTR_variant,,ENST00000380675,;BDP1,non_coding_transcript_exon_variant,,ENST00000508917,;							MODERATE	1210/7875	K404E	BDP1_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000351575		CCDS43328.1			1	
MIS18BP1	0	LGGM	GRCh37	14	45679657	45679657	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	32	9	.	.	ENST00000310806.4:c.3078A>G	p.Ser1026=	p.S1026=	ENST00000310806	NM_018353.4	1026	tcA/tcG	0	1	1	UPI00001FD488	0		ENST00000310806		ENSG00000129534	20190		41			HGNC	p.S1026S		MIS18BP1		SNV							ENST00000310806	protein_coding			hmmpanther:PTHR16124:SF1,hmmpanther:PTHR16124		S		C		3537/4777				C9J2Q8_HUMAN			YES	MIS18BP1,synonymous_variant,p.=,ENST00000310806,NM_018353.4;MIS18BP1,non_coding_transcript_exon_variant,,ENST00000469020,;MIS18BP1,upstream_gene_variant,,ENST00000470424,;MIS18BP1,downstream_gene_variant,,ENST00000554093,;MIS18BP1,upstream_gene_variant,,ENST00000496413,;							LOW	3078/3399		M18BP_HUMAN			Transcript			.	ENSP00000309790		CCDS9684.1			1	
ZNF512	0	LGGM	GRCh37	2	27820998	27820998	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	42	9	.	.	ENST00000355467.4:c.154T>G	p.Leu52Val	p.L52V	ENST00000355467	NM_001271289.1	52	Tta/Gta	0	1	1	UPI0000141030	0	NA	ENST00000355467		ENSG00000243943	29380		51	1.1		HGNC	p.L51V		ZNF512		SNV							ENST00000416005	protein_coding	getma.org/?cm=var&var=hg19,2,27820998,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22979:SF2,hmmpanther:PTHR22979		L/V		G	low	237/3541		getma.org/?cm=msa&ty=f&p=ZN512_HUMAN&rb=1&re=200&var=L52V	tolerated_low_confidence(0.68)	Q658M0_HUMAN			YES	ZNF512,missense_variant,p.Leu52Val,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,missense_variant,p.Leu51Val,ENST00000379717,;ZNF512,missense_variant,p.Leu51Val,ENST00000416005,NM_001271286.1;ZNF512,5_prime_UTR_variant,,ENST00000413371,;ZNF512,5_prime_UTR_variant,,ENST00000556601,;RP11-158I13.2,non_coding_transcript_exon_variant,,ENST00000505973,;ZNF512,non_coding_transcript_exon_variant,,ENST00000494548,;ZNF512,non_coding_transcript_exon_variant,,ENST00000461705,;							MODERATE	154/1704	L52V	ZN512_HUMAN			Transcript		benign(0.029)	.	ENSP00000347648		CCDS1758.1			1	
NCBP1	0	LGGM	GRCh37	9	100429109	100429109	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	45	10	.	.	ENST00000375147.3:c.1966C>G	p.Gln656Glu	p.Q656E	ENST00000375147	NM_002486.4	656	Cag/Gag	0	1	1	UPI0000112754	0	getma.org/pdb.php?prot=NCBP1_HUMAN&from=485&to=754&var=Q656E	ENST00000375147		ENSG00000136937	7658		55	0.975		HGNC	p.Q9E		NCBP1		SNV							ENST00000375130	protein_coding	getma.org/?cm=var&var=hg19,9,100429109,C,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF09090,hmmpanther:PTHR12412,Superfamily_domains:SSF48371		Q/E		G	low	2222/5178		getma.org/?cm=msa&ty=f&p=NCBP1_HUMAN&rb=485&re=754&var=Q656E	tolerated(0.61)				YES	NCBP1,missense_variant,p.Gln656Glu,ENST00000375147,NM_002486.4;NCBP1,missense_variant,p.Gln23Glu,ENST00000375130,;							MODERATE	1966/2373	Q656E	NCBP1_HUMAN			Transcript		benign(0.004)	.	ENSP00000364289		CCDS6728.1			1	
DNAH7	0	LGGM	GRCh37	2	196825169	196825169	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	64	10	.	.	ENST00000312428.6:c.2706A>G	p.Glu902=	p.E902=	ENST00000312428	NM_018897.2	902	gaA/gaG	0	1	1	UPI0000141B95	0		ENST00000312428		ENSG00000118997	18661		74			HGNC	p.E902E		DNAH7		SNV							ENST00000312428	protein_coding			hmmpanther:PTHR10676:SF138,hmmpanther:PTHR10676,Pfam_domain:PF08393		E		C		2807/12394				C9JUY3_HUMAN			YES	DNAH7,synonymous_variant,p.=,ENST00000312428,NM_018897.2;							LOW	2706/12075		DYH7_HUMAN			Transcript			.	ENSP00000311273		CCDS42794.1			1	
OR4C6	0	LGGM	GRCh37	11	55432971	55432971	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	36	10	.	.	ENST00000314259.3:c.329T>A	p.Ile110Asn	p.I110N	ENST00000314259	NM_001004704.1	110	aTc/aAc	0	1	1	UPI0000041868	0	getma.org/pdb.php?prot=OR4C6_HUMAN&from=1&to=136&var=I110N	ENST00000314259		ENSG00000181903	14743		46	1.035		HGNC	p.I110N		OR4C6		SNV							ENST00000314259	protein_coding	getma.org/?cm=var&var=hg19,11,55432971,T,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF80,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/N		A	low	358/1058		getma.org/?cm=msa&ty=f&p=OR4C6_HUMAN&rb=1&re=136&var=I110N	deleterious_low_confidence(0)				YES	OR4C6,missense_variant,p.Ile110Asn,ENST00000314259,NM_001004704.1;							MODERATE	329/930	I110N	OR4C6_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000324769		CCDS31506.1			1	
UPP2	0	LGGM	GRCh37	2	158958631	158958631	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	22	10	.	.	ENST00000605860.1:c.227A>T	p.Tyr76Phe	p.Y76F	ENST00000605860		76	tAt/tTt	0	1		UPI0000073C90	0	NA	ENST00000005756		ENSG00000007001	23061		32	2.085		HGNC	p.Y19F		UPP2		SNV							ENST00000005756	protein_coding	getma.org/?cm=var&var=hg19,2,158958631,A,T&fts=all				Y/F		T	medium	250/2224		getma.org/?cm=msa&ty=f&p=UPP2_HUMAN&rb=1&re=59&var=Y19F	tolerated(0.23)					UPP2,missense_variant,p.Tyr76Phe,ENST00000605860,;UPP2,missense_variant,p.Tyr76Phe,ENST00000409859,NM_001135098.1;UPP2,missense_variant,p.Tyr19Phe,ENST00000005756,NM_173355.3;UPP2,non_coding_transcript_exon_variant,,ENST00000460456,;							MODERATE	56/954	Y19F	UPP2_HUMAN			Transcript		benign(0.147)	.	ENSP00000005756		CCDS2207.1			1	
CIDEB	0	LGGM	GRCh37	14	24775322	24775322	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	31	10	.	.	ENST00000336557.5:c.358C>G	p.Leu120Val	p.L120V	ENST00000336557		120	Ctg/Gtg	0	1		UPI0000001BDD	0	NA	ENST00000258807		ENSG00000136305	1977		41	2.25		HGNC	p.L120V		CIDEB		SNV							ENST00000258807	protein_coding	getma.org/?cm=var&var=hg19,14,24775322,G,C&fts=all		hmmpanther:PTHR12306,hmmpanther:PTHR12306:SF10		L/V		C	medium	1546/2294		getma.org/?cm=msa&ty=f&p=CIDEB_HUMAN&rb=111&re=219&var=L120V	tolerated(0.09)	G3V4E2_HUMAN				CIDEB,missense_variant,p.Leu120Val,ENST00000336557,;CIDEB,missense_variant,p.Leu120Val,ENST00000258807,NM_014430.2;CIDEB,missense_variant,p.Leu120Val,ENST00000554411,;NOP9,3_prime_UTR_variant,,ENST00000267425,NM_174913.1;LTB4R2,intron_variant,,ENST00000527924,;NOP9,intron_variant,,ENST00000557362,;CIDEB,intron_variant,,ENST00000556756,;LTB4R2,upstream_gene_variant,,ENST00000528054,;NOP9,downstream_gene_variant,,ENST00000396802,NM_001286367.1;LTB4R2,upstream_gene_variant,,ENST00000543919,NM_019839.4,NM_001164692.2;LTB4R2,upstream_gene_variant,,ENST00000533293,;LTB4R2,upstream_gene_variant,,ENST00000530080,;CIDEB,downstream_gene_variant,,ENST00000555817,;CIDEB,downstream_gene_variant,,ENST00000555471,;							MODERATE	358/660	L120V	CIDEB_HUMAN			Transcript		benign(0.237)	.	ENSP00000258807		CCDS32056.1			1	
ZNF789	0	LGGM	GRCh37	7	99084554	99084554	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	40	10	.	.	ENST00000331410.5:c.721C>T	p.Arg241Trp	p.R241W	ENST00000331410	NM_213603.2	241	Cgg/Tgg	0	1	1	UPI00001D74C1	0	getma.org/pdb.php?prot=ZN789_HUMAN&from=228&to=254&var=R241W	ENST00000331410		ENSG00000198556	27801		50	2.855		HGNC	p.R241W	rs368664475	ZNF789		SNV	T:0.0005			0.000193			ENST00000331410	protein_coding	getma.org/?cm=var&var=hg19,7,99084554,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13912,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF196,SMART_domains:SM00355,Superfamily_domains:SSF57667		R/W	T:0	T	medium	991/1654	3.00E-05	getma.org/?cm=msa&ty=f&p=ZN789_HUMAN&rb=208&re=274&var=R241W	deleterious(0.02)				YES	ZNF789,missense_variant,p.Arg241Trp,ENST00000331410,NM_213603.2;ZNF789,intron_variant,,ENST00000493485,;ZNF789,downstream_gene_variant,,ENST00000483089,;ZNF789,downstream_gene_variant,,ENST00000448667,;ZNF789,downstream_gene_variant,,ENST00000379724,NM_001013258.1;ZNF394,non_coding_transcript_exon_variant,,ENST00000462024,;ZNF789,intron_variant,,ENST00000494186,;ZNF789,downstream_gene_variant,,ENST00000481472,;ZNF789,non_coding_transcript_exon_variant,,ENST00000481108,;ZNF789,downstream_gene_variant,,ENST00000465438,;ZNF789,downstream_gene_variant,,ENST00000447047,;							MODERATE	721/1278	R241W	ZN789_HUMAN			Transcript		benign(0.022)	.	ENSP00000331927	3.29E-05	CCDS34693.1			1	
COQ6	0	LGGM	GRCh37	14	74422595	74422595	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	40	11	.	.	ENST00000334571.2:c.445A>G	p.Met149Val	p.M149V	ENST00000334571	NM_182476.2	149	Atg/Gtg	0	1	1	UPI0000127F00	0	NA	ENST00000334571		ENSG00000119723	20233		51	-1.405		HGNC	p.M124V		COQ6		SNV			1				ENST00000394026	protein_coding	getma.org/?cm=var&var=hg19,14,74422595,A,G&fts=all		Gene3D:3.50.50.60,hmmpanther:PTHR13789,hmmpanther:PTHR13789:SF5,Superfamily_domains:SSF51905,TIGRFAM_domain:TIGR01988,TIGRFAM_domain:TIGR01989		M/V		G	neutral	485/2118		getma.org/?cm=msa&ty=f&p=COQ6_HUMAN&rb=1&re=188&var=M149V	tolerated(0.21)	G3V2W8_HUMAN			YES	COQ6,missense_variant,p.Met149Val,ENST00000334571,NM_182476.2;COQ6,missense_variant,p.Met124Val,ENST00000394026,NM_182480.2;COQ6,missense_variant,p.Met74Val,ENST00000238709,;COQ6,missense_variant,p.Met74Val,ENST00000554320,;COQ6,missense_variant,p.Met149Val,ENST00000554920,;ENTPD5,downstream_gene_variant,,ENST00000557325,;COQ6,non_coding_transcript_exon_variant,,ENST00000555552,;COQ6,upstream_gene_variant,,ENST00000557780,;COQ6,3_prime_UTR_variant,,ENST00000554341,;COQ6,3_prime_UTR_variant,,ENST00000557584,;COQ6,3_prime_UTR_variant,,ENST00000555196,;COQ6,3_prime_UTR_variant,,ENST00000554153,;COQ6,non_coding_transcript_exon_variant,,ENST00000553462,;COQ6,non_coding_transcript_exon_variant,,ENST00000556300,;COQ6,non_coding_transcript_exon_variant,,ENST00000557205,;COQ6,non_coding_transcript_exon_variant,,ENST00000555511,;COQ6,non_coding_transcript_exon_variant,,ENST00000555392,;COQ6,non_coding_transcript_exon_variant,,ENST00000553922,;COQ6,non_coding_transcript_exon_variant,,ENST00000554193,;COQ6,upstream_gene_variant,,ENST00000556588,;COQ6,upstream_gene_variant,,ENST00000553448,;COQ6,downstream_gene_variant,,ENST00000554217,;							MODERATE	445/1407	M149V	COQ6_HUMAN			Transcript		benign(0.001)	.	ENSP00000333946		CCDS9823.1			1	
ZFHX4	0	LGGM	GRCh37	8	77768161	77768161	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	73	11	.	.	ENST00000521891.2:c.9004A>G	p.Thr3002Ala	p.T3002A	ENST00000521891	NM_024721.4	3002	Acg/Gcg	0	1	1	UPI0000424CC7	0	getma.org/pdb.php?prot=ZFHX4_HUMAN&from=2942&to=2960&var=T2957A	ENST00000521891		ENSG00000091656	30939		84	0.49		HGNC	p.T3002A	rs550272201	ZFHX4	6.07E-05	SNV							ENST00000521891	protein_coding	getma.org/?cm=var&var=hg19,8,77768161,A,G&fts=all	G:0	hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40		T/A		G	neutral	9452/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=2912&re=2990&var=T2957A		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN	G:0	G:0.001	YES	ZFHX4,missense_variant,p.Thr3002Ala,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Thr2957Ala,ENST00000455469,;ZFHX4,missense_variant,p.Thr2976Ala,ENST00000518282,;ZFHX4,missense_variant,p.Thr2957Ala,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000522409,;	0.000236	G:0.0002					MODERATE	9004/10851	T2957A			G:0	Transcript		benign(0.001)	.	ENSP00000430497	2.48E-05	CCDS47878.2		G:0	1	
BAZ1A	0	LGGM	GRCh37	14	35227987	35227987	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	24	12	.	.	ENST00000360310.1:c.4309G>T	p.Ala1437Ser	p.A1437S	ENST00000360310	NM_013448.2	1437	Gct/Tct	0	1	1	UPI00001584D3	0	NA	ENST00000360310		ENSG00000198604	960		36	1.31		HGNC	p.A1437S		BAZ1A		SNV							ENST00000382422	protein_coding	getma.org/?cm=var&var=hg19,14,35227987,C,A&fts=all		Gene3D:1.20.920.10,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145,SMART_domains:SM00297,Superfamily_domains:SSF47370		A/S		A	low	4877/6010		getma.org/?cm=msa&ty=f&p=BAZ1A_HUMAN&rb=1401&re=1467&var=A1437S	deleterious(0.01)	D3DS96_HUMAN			YES	BAZ1A,missense_variant,p.Ala1437Ser,ENST00000360310,NM_013448.2;BAZ1A,missense_variant,p.Ala1405Ser,ENST00000358716,NM_182648.1;BAZ1A,missense_variant,p.Ala1437Ser,ENST00000382422,;BAZ1A,non_coding_transcript_exon_variant,,ENST00000557739,;BAZ1A,intron_variant,,ENST00000555331,;							MODERATE	4309/4671	A1437S	BAZ1A_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000353458		CCDS9651.1			1	
GSPT1	0	LGGM	GRCh37	16	11980369	11980369	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	18	12	.	.	ENST00000434724.2:c.1212A>G	p.Gly404=	p.G404=	ENST00000434724	NM_002094.3	404	ggA/ggG	0	1		UPI000012BC15	0		ENST00000420576		ENSG00000103342	4621		30			HGNC	p.G266G		GSPT1		SNV							ENST00000563468	protein_coding			hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF125,Gene3D:3.40.50.300,Pfam_domain:PF00009,Superfamily_domains:SSF52540		G		C		901/1603								GSPT1,synonymous_variant,p.=,ENST00000434724,NM_002094.3,NM_001130006.1;GSPT1,synonymous_variant,p.=,ENST00000439887,;GSPT1,synonymous_variant,p.=,ENST00000563468,;GSPT1,synonymous_variant,p.=,ENST00000565267,;GSPT1,synonymous_variant,p.=,ENST00000420576,NM_001130007.1;GSPT1,downstream_gene_variant,,ENST00000568849,;RP11-166B2.8,intron_variant,,ENST00000574364,;RP11-166B2.3,upstream_gene_variant,,ENST00000568144,;GSPT1,non_coding_transcript_exon_variant,,ENST00000564790,;GSPT1,non_coding_transcript_exon_variant,,ENST00000562794,;GSPT1,downstream_gene_variant,,ENST00000567631,;							LOW	798/1500		ERF3A_HUMAN			Transcript			.	ENSP00000399539		CCDS45414.1			1	
INTS7	0	LGGM	GRCh37	1	212125989	212125989	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	24	13	.	.	ENST00000366994.3:c.2238A>C	p.Arg746Ser	p.R746S	ENST00000366994	NM_001199811.1	746	agA/agC	0	1	1	UPI000006FE2E	0	NA	ENST00000366994		ENSG00000143493	24484		37	1.155		HGNC	p.R697S		INTS7		SNV							ENST00000440600	protein_coding	getma.org/?cm=var&var=hg19,1,212125989,T,G&fts=all		hmmpanther:PTHR13322,hmmpanther:PTHR13322:SF2		R/S		G	low	2343/4417		getma.org/?cm=msa&ty=f&p=INT7_HUMAN&rb=8&re=823&var=R746S	deleterious(0.02)				YES	INTS7,missense_variant,p.Arg746Ser,ENST00000366994,NM_001199811.1,NM_015434.3,NM_001199812.1;INTS7,missense_variant,p.Arg746Ser,ENST00000366993,;INTS7,missense_variant,p.Arg746Ser,ENST00000366992,;INTS7,missense_variant,p.Arg697Ser,ENST00000440600,NM_001199809.1;INTS7,non_coding_transcript_exon_variant,,ENST00000469606,;INTS7,non_coding_transcript_exon_variant,,ENST00000461212,;INTS7,non_coding_transcript_exon_variant,,ENST00000475798,;							MODERATE	2238/2889	R746S	INT7_HUMAN			Transcript		benign(0.059)	.	ENSP00000355961		CCDS1501.1			1	
WDR78	0	LGGM	GRCh37	1	67390489	67390489	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	31	13	.	.	ENST00000371026.3:c.26C>G	p.Ala9Gly	p.A9G	ENST00000371026	NM_024763.4	9	gCc/gGc	0	1	1	UPI00004561EF	0	NA	ENST00000371026		ENSG00000152763	26252		44	0.345		HGNC	p.A9G		WDR78		SNV							ENST00000371026	protein_coding	getma.org/?cm=var&var=hg19,1,67390489,G,C&fts=all		Low_complexity_(Seg):seg		A/G		C	neutral	82/3848		getma.org/?cm=msa&ty=f&p=WDR78_HUMAN&rb=1&re=469&var=A9G	tolerated_low_confidence(0.41)				YES	WDR78,missense_variant,p.Ala9Gly,ENST00000371026,NM_024763.4;WDR78,missense_variant,p.Ala9Gly,ENST00000371023,NM_207014.2;WDR78,missense_variant,p.Ala9Gly,ENST00000371022,;WDR78,5_prime_UTR_variant,,ENST00000431318,;MIER1,upstream_gene_variant,,ENST00000357692,NM_001146110.1;MIER1,upstream_gene_variant,,ENST00000371018,NM_001146112.1,NM_001146111.1,NM_020948.3,NM_001077702.2;MIER1,upstream_gene_variant,,ENST00000355977,NM_001146113.1,NM_001077703.2;MIER1,upstream_gene_variant,,ENST00000401041,NM_001077700.2;MIER1,upstream_gene_variant,,ENST00000371012,NM_001278215.1;MIER1,upstream_gene_variant,,ENST00000371016,;MIER1,upstream_gene_variant,,ENST00000371014,;WDR78,upstream_gene_variant,,ENST00000474506,;WDR78,missense_variant,p.Ala5Gly,ENST00000531980,;WDR78,missense_variant,p.Ala5Gly,ENST00000532629,;							MODERATE	26/2547	A9G	WDR78_HUMAN			Transcript		benign(0.017)	.	ENSP00000360065		CCDS635.1			1	
KIAA0226L	0	LGGM	GRCh37	13	46933656	46933656	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	34	13	.	.	ENST00000429979.1:c.1230A>T	p.Arg410Ser	p.R410S	ENST00000429979	NM_025113.2	410	agA/agT	0	1		UPI00001FCD59	0	NA	ENST00000389908		ENSG00000102445	20420		47	3.03		HGNC	p.R253S		KIAA0226L		SNV							ENST00000409879	protein_coding	getma.org/?cm=var&var=hg19,13,46933656,T,A&fts=all		hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF9		R/S		A	medium	1813/2993		getma.org/?cm=msa&ty=f&p=K226L_HUMAN&rb=401&re=600&var=R410S	deleterious(0)	Q5W050_HUMAN,A8XR14_HUMAN,A8KAG9_HUMAN				KIAA0226L,missense_variant,p.Arg410Ser,ENST00000429979,NM_025113.2;KIAA0226L,missense_variant,p.Arg410Ser,ENST00000378797,NM_001286762.1;KIAA0226L,missense_variant,p.Arg253Ser,ENST00000409879,;KIAA0226L,missense_variant,p.Arg410Ser,ENST00000389908,;KIAA0226L,missense_variant,p.Arg410Ser,ENST00000378787,;KIAA0226L,missense_variant,p.Arg343Ser,ENST00000378784,NM_001286763.1;KIAA0226L,missense_variant,p.Arg275Ser,ENST00000534925,NM_001286764.1;KIAA0226L,missense_variant,p.Arg253Ser,ENST00000322896,;KIAA0226L,3_prime_UTR_variant,,ENST00000378781,;KIAA0226L,3_prime_UTR_variant,,ENST00000441284,;PPP1R2P4,non_coding_transcript_exon_variant,,ENST00000535073,;							MODERATE	1230/1989	R410S	K226L_HUMAN			Transcript		benign(0.403)	.	ENSP00000374558		CCDS31970.2			1	
POLE	0	LGGM	GRCh37	12	133219447	133219447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	48	13	.	.	ENST00000320574.5:c.4687A>T	p.Thr1563Ser	p.T1563S	ENST00000320574	NM_006231.2	1563	Acc/Tcc	0	1	1	UPI00001FBF97	0	NA	ENST00000320574		ENSG00000177084	9177		61	1.245		HGNC	p.T1563S		POLE		SNV			1				ENST00000320574	protein_coding	getma.org/?cm=var&var=hg19,12,133219447,T,A&fts=all		hmmpanther:PTHR10670,hmmpanther:PTHR10670:SF0,Pfam_domain:PF08490		T/S		A	low	4731/7840		getma.org/?cm=msa&ty=f&p=DPOE1_HUMAN&rb=1525&re=1925&var=T1563S	tolerated(0.65)	Q9UNE8_HUMAN,Q96IE1_HUMAN,Q8WU23_HUMAN,F5H7H6_HUMAN,F5H5Q5_HUMAN,F5H3W5_HUMAN,F5H0H8_HUMAN,D3DXI9_HUMAN			YES	POLE,missense_variant,p.Thr1563Ser,ENST00000320574,NM_006231.2;POLE,missense_variant,p.Thr1536Ser,ENST00000535270,;POLE,upstream_gene_variant,,ENST00000434528,;POLE,3_prime_UTR_variant,,ENST00000537064,;POLE,upstream_gene_variant,,ENST00000541213,;POLE,upstream_gene_variant,,ENST00000542362,;							MODERATE	4687/6861	T1563S	DPOE1_HUMAN			Transcript		benign(0.01)	.	ENSP00000322570		CCDS9278.1			1	
FLG2	0	LGGM	GRCh37	1	152326196	152326196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	91	14	.	.	ENST00000388718.5:c.4066C>T	p.His1356Tyr	p.H1356Y	ENST00000388718	NM_001014342.2	1356	Cac/Tac	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		105	2.125		HGNC	p.H1356Y		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152326196,G,A&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		H/Y		A	medium	4139/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=H1356Y					YES	FLG2,missense_variant,p.His1356Tyr,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	4066/7176	H1356Y	FILA2_HUMAN			Transcript		benign(0.083)	.	ENSP00000373370		CCDS30861.1			1	
FRMPD4	0	LGGM	GRCh37	X	12736011	12736011	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	18	14	.	.	ENST00000380682.1:c.3066C>T	p.Ser1022=	p.S1022=	ENST00000380682	NM_014728.3	1022	tcC/tcT	0	1	1	UPI00001C2066	0		ENST00000380682		ENSG00000169933	29007		32			HGNC	p.S1022S		FRMPD4		SNV							ENST00000380682	protein_coding			hmmpanther:PTHR13436,hmmpanther:PTHR13436:SF3		S		T		3572/8465							YES	FRMPD4,synonymous_variant,p.=,ENST00000380682,NM_014728.3;							LOW	3066/3969		FRPD4_HUMAN			Transcript			.	ENSP00000370057		CCDS35201.1			1	
PCDHA7	0	LGGM	GRCh37	5	140216002	140216002	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	45	14	.	.	ENST00000525929.1:c.2034G>A	p.Ala678=	p.A678=	ENST00000525929	NM_018910.2	678	gcG/gcA	0	1	1	UPI00001273CF	0		ENST00000525929		ENSG00000204963	8673	8.64E-05	59			HGNC	p.A678A	rs782598314	PCDHA7		SNV							ENST00000378125	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF67,PROSITE_profiles:PS50268		A		A		2034/5221							YES	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,;PCDHA8,upstream_gene_variant,,ENST00000531613,NM_018911.2;PCDHA8,upstream_gene_variant,,ENST00000378123,NM_031856.1;							LOW	2034/2814		PCDA7_HUMAN			Transcript			.	ENSP00000436426	8.24E-06	CCDS54918.1			1	
BEND7	0	LGGM	GRCh37	10	13541893	13541893	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	26	14	.	.	ENST00000341083.3:c.177G>T	p.Pro59=	p.P59=	ENST00000341083	NM_152751.2	59	ccG/ccT	0	1	1	UPI000013FFEA	0		ENST00000341083		ENSG00000165626	23514		40			HGNC	p.P111P		BEND7		SNV							ENST00000396900	protein_coding					P		A		474/2239							YES	BEND7,synonymous_variant,p.=,ENST00000341083,NM_152751.2;BEND7,synonymous_variant,p.=,ENST00000396900,;BEND7,synonymous_variant,p.=,ENST00000396898,;BEND7,synonymous_variant,p.=,ENST00000378605,NM_001100912.1;BEND7,non_coding_transcript_exon_variant,,ENST00000466271,;BEND7,upstream_gene_variant,,ENST00000492675,;							LOW	177/1407		BEND7_HUMAN			Transcript			.	ENSP00000345773		CCDS7099.1			1	
KIF24	0	LGGM	GRCh37	9	34311136	34311136	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	52	15	.	.	ENST00000379166.2:c.209C>G	p.Ala70Gly	p.A70G	ENST00000379166	NM_194313.2	70	gCa/gGa	0	1	1	UPI00004F9D23	0	NA	ENST00000379166		ENSG00000186638	19916		67	1.845		HGNC	p.A70G		KIF24		SNV							ENST00000379174	protein_coding	getma.org/?cm=var&var=hg19,9,34311136,G,C&fts=all				A/G		C	low	329/6226		getma.org/?cm=msa&ty=f&p=KIF24_HUMAN&rb=63&re=228&var=A70G	tolerated(0.06)				YES	KIF24,missense_variant,p.Ala70Gly,ENST00000379166,NM_194313.2;KIF24,missense_variant,p.Ala70Gly,ENST00000402558,;KIF24,missense_variant,p.Ala70Gly,ENST00000345050,;KIF24,missense_variant,p.Ala70Gly,ENST00000379174,;							MODERATE	209/4107	A70G	KIF24_HUMAN			Transcript		benign(0.02)	.	ENSP00000368464		CCDS6551.2			1	
COL2A1	0	LGGM	GRCh37	12	48368475	48368475	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	70	15	.	.	ENST00000380518.3:c.4057A>G	p.Ile1353Val	p.I1353V	ENST00000380518	NM_033150.2	1353	Atc/Gtc	0	1	1	UPI0000D79713	0	NA	ENST00000380518		ENSG00000139219	2200		85	1.535		HGNC	p.I1284V	COSM693830,COSM693829	COL2A1		SNV			1			1,1	ENST00000337299	protein_coding	getma.org/?cm=var&var=hg19,12,48368475,T,C&fts=all		Pfam_domain:PF01410,PROSITE_profiles:PS51461,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF58,SMART_domains:SM00038		I/V		C	low	4222/5071		getma.org/?cm=msa&ty=f&p=CO2A1_HUMAN&rb=1269&re=1486&var=I1353V					YES	COL2A1,missense_variant,p.Ile1353Val,ENST00000380518,NM_033150.2,NM_001844.4;COL2A1,missense_variant,p.Ile1284Val,ENST00000337299,;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,;COL2A1,downstream_gene_variant,,ENST00000546974,;					1,1		MODERATE	4057/4464	I1353V	CO2A1_HUMAN			Transcript		unknown(0)	.	ENSP00000369889		CCDS41778.1			1	
DLG2	0	LGGM	GRCh37	11	84996269	84996269	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	91	16	.	.	ENST00000376104.2:c.181T>C	p.Ser61Pro	p.S61P	ENST00000376104	NM_001142699.1	61	Tca/Cca	0	1	1	UPI0000E59399	0	NA	ENST00000376104		ENSG00000150672	2901		107	1.04		HGNC	p.S61P		DLG2		SNV							ENST00000376104	protein_coding	getma.org/?cm=var&var=hg19,11,84996269,A,G&fts=all		PIRSF_domain:PIRSF001741,hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF6		S/P		G	low	493/5139		getma.org/?cm=msa&ty=f&p=H0YGP1_HUMAN&rb=1&re=200&var=S61P	tolerated_low_confidence(0.28)	F8W750_HUMAN,E9PQT9_HUMAN			YES	DLG2,missense_variant,p.Ser61Pro,ENST00000376104,NM_001142699.1;DLG2,missense_variant,p.Ser61Pro,ENST00000543673,;							MODERATE	181/2928	S61P	DLG2_HUMAN			Transcript		benign(0.03)	.	ENSP00000365272		CCDS44690.1			1	
PCDHB10	0	LGGM	GRCh37	5	140572292	140572292	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	27	16	.	.	ENST00000239446.4:c.167A>C	p.Glu56Ala	p.E56A	ENST00000239446	NM_018930.3	56	gAg/gCg	0	1	1	UPI0000048F2E	0	getma.org/pdb.php?prot=PCDBA_HUMAN&from=29&to=112&var=E56A	ENST00000239446		ENSG00000120324	8681		43	-0.845		HGNC	p.E56A		PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140572292,A,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF08266,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Superfamily_domains:SSF49313		E/A		C	neutral	351/3274		getma.org/?cm=msa&ty=f&p=PCDBA_HUMAN&rb=29&re=112&var=E56A	tolerated_low_confidence(0.08)	O95883_HUMAN			YES	PCDHB10,missense_variant,p.Glu56Ala,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							MODERATE	167/2403	E56A	PCDBA_HUMAN			Transcript		benign(0)	.	ENSP00000239446		CCDS4252.1			1	
ART1	0	LGGM	GRCh37	11	3681547	3681547	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	22	16	.	.	ENST00000250693.1:c.798C>G	p.Leu266=	p.L266=	ENST00000250693	NM_004314.2	266	ctC/ctG	0	1	1	UPI000013CCC8	0		ENST00000250693		ENSG00000129744	723		38			HGNC	p.L266L		ART1		SNV							ENST00000250693	protein_coding			hmmpanther:PTHR10339:SF19,hmmpanther:PTHR10339,Gene3D:3.90.176.10,Pfam_domain:PF01129,Superfamily_domains:SSF56399		L		G		899/1312							YES	ART1,synonymous_variant,p.=,ENST00000250693,NM_004314.2;Y_RNA,downstream_gene_variant,,ENST00000364409,;Y_RNA,downstream_gene_variant,,ENST00000363331,;ART1,downstream_gene_variant,,ENST00000529556,;							LOW	798/984		NAR1_HUMAN			Transcript			.	ENSP00000250693		CCDS7744.1			1	
STON1-GTF2A1L	0	LGGM	GRCh37	2	48873783	48873783	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	36	16	.	.	ENST00000394754.1:c.2692C>T	p.Leu898=	p.L898=	ENST00000394754	NM_172311.2	898	Cta/Tta	0	1	1	UPI000013C976	0		ENST00000394754		ENSG00000068781	30651		52			HGNC	p.L160L		STON1-GTF2A1L		SNV							ENST00000430487	protein_coding			Pfam_domain:PF03153		L		T		2806/3824				Q53S48_HUMAN			YES	STON1-GTF2A1L,synonymous_variant,p.=,ENST00000394754,NM_172311.2;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000405008,;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000309827,;STON1-GTF2A1L,synonymous_variant,p.=,ENST00000394751,NM_001198594.1;GTF2A1L,synonymous_variant,p.=,ENST00000403751,NM_006872.3;GTF2A1L,synonymous_variant,p.=,ENST00000430487,NM_001193487.1;GTF2A1L,synonymous_variant,p.=,ENST00000437125,;GTF2A1L,synonymous_variant,p.=,ENST00000448460,;LHCGR,intron_variant,,ENST00000420913,;GTF2A1L,downstream_gene_variant,,ENST00000468326,;GTF2A1L,downstream_gene_variant,,ENST00000423675,;							LOW	2692/3549					Transcript			.	ENSP00000378236		CCDS1840.1			1	
MAP3K4	0	LGGM	GRCh37	6	161470501	161470501	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	30	16	.	.	ENST00000392142.4:c.1197C>A	p.Ile399=	p.I399=	ENST00000392142	NM_005922.2	399	atC/atA	0	1	1	UPI00004574E1	0		ENST00000392142		ENSG00000085511	6856		46			HGNC	p.I399I		MAP3K4		SNV							ENST00000348824	protein_coding			hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF53		I		A		1345/5490				F5H534_HUMAN			YES	MAP3K4,synonymous_variant,p.=,ENST00000392142,NM_005922.2;MAP3K4,synonymous_variant,p.=,ENST00000366920,;MAP3K4,synonymous_variant,p.=,ENST00000366919,NM_006724.2;MAP3K4,synonymous_variant,p.=,ENST00000348824,;MAP3K4,downstream_gene_variant,,ENST00000446500,;MAP3K4,synonymous_variant,p.=,ENST00000490904,;MAP3K4,synonymous_variant,p.=,ENST00000544041,;MAP3K4,intron_variant,,ENST00000542952,;							LOW	1197/4827		M3K4_HUMAN			Transcript			.	ENSP00000375986		CCDS34565.1			1	
WBP1	0	LGGM	GRCh37	2	74686042	74686042	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	22	16	.	.	ENST00000233615.2:c.69+244G>A		*23*	ENST00000233615	NM_012477.3			0	1	1	UPI0000138EBA	0		ENST00000233615		ENSG00000239779	12737		38			HGNC	p.G15D	rs753828624	WBP1	0.000782	SNV							ENST00000428943	protein_coding							A		-/1294							YES	WBP1,missense_variant,p.Gly15Asp,ENST00000428943,;WBP1,intron_variant,,ENST00000393972,;WBP1,intron_variant,,ENST00000233615,NM_012477.3;WBP1,intron_variant,,ENST00000409737,;MOGS,downstream_gene_variant,,ENST00000233616,NM_006302.2;MOGS,downstream_gene_variant,,ENST00000409065,;MOGS,downstream_gene_variant,,ENST00000452063,NM_001146158.1;MOGS,downstream_gene_variant,,ENST00000448666,;INO80B,downstream_gene_variant,,ENST00000233331,NM_031288.3;MOGS,downstream_gene_variant,,ENST00000535045,;INO80B,downstream_gene_variant,,ENST00000409917,;INO80B,downstream_gene_variant,,ENST00000409493,;INO80B,downstream_gene_variant,,ENST00000431187,;MOGS,downstream_gene_variant,,ENST00000414701,;WBP1,non_coding_transcript_exon_variant,,ENST00000474185,;WBP1,intron_variant,,ENST00000494741,;WBP1,intron_variant,,ENST00000470536,;WBP1,intron_variant,,ENST00000466835,;WBP1,intron_variant,,ENST00000464774,;INO80B,downstream_gene_variant,,ENST00000469849,;INO80B,downstream_gene_variant,,ENST00000494986,;MOGS,downstream_gene_variant,,ENST00000462443,;MOGS,downstream_gene_variant,,ENST00000489655,;WBP1,non_coding_transcript_exon_variant,,ENST00000484744,;WBP1,non_coding_transcript_exon_variant,,ENST00000466303,;WBP1,non_coding_transcript_exon_variant,,ENST00000492047,;INO80B,intron_variant,,ENST00000452361,;INO80B,intron_variant,,ENST00000441673,;WBP1,intron_variant,,ENST00000473467,;MOGS,downstream_gene_variant,,ENST00000462189,;WBP1,upstream_gene_variant,,ENST00000490120,;INO80B,downstream_gene_variant,,ENST00000471577,;INO80B,downstream_gene_variant,,ENST00000473618,;INO80B,downstream_gene_variant,,ENST00000455562,;							MODIFIER	-/810		WBP1_HUMAN			Transcript			common_variant	ENSP00000233615	0.000237	CCDS1943.1			1	
TAS2R38	0	LGGM	GRCh37	7	141673198	141673198	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	35	17	.	.	ENST00000547270.1:c.292C>T	p.Leu98=	p.L98=	ENST00000547270	NM_176817.4	98	Cta/Tta	0	1	1	UPI000000D825	0		ENST00000547270		ENSG00000257138	9584		52			HGNC	p.L98L		TAS2R38		SNV			1				ENST00000547270	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF52,hmmpanther:PTHR11394		L		A		376/1143				Q50KM3_HUMAN,Q50KM1_HUMAN			YES	TAS2R38,synonymous_variant,p.=,ENST00000547270,NM_176817.4;MGAM,intron_variant,,ENST00000465654,;							LOW	292/1002		T2R38_HUMAN			Transcript			.	ENSP00000448219		CCDS34765.1			1	
ACTR1A	0	LGGM	GRCh37	10	104247947	104247947	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	31	17	.	.	ENST00000369905.4:c.275A>T	p.Tyr92Phe	p.Y92F	ENST00000369905	NM_005736.3	92	tAt/tTt	0	1	1	UPI0000000973	0	getma.org/pdb.php?prot=ACTZ_HUMAN&from=7&to=376&var=Y92F	ENST00000369905		ENSG00000138107	167		48	2.21		HGNC	p.Y45F		ACTR1A		SNV							ENST00000446605	protein_coding	getma.org/?cm=var&var=hg19,10,104247947,T,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF166,SMART_domains:SM00268,Superfamily_domains:SSF53067		Y/F		A	medium	339/2829		getma.org/?cm=msa&ty=f&p=ACTZ_HUMAN&rb=7&re=376&var=Y92F	deleterious(0.02)	F5H3I4_HUMAN,B4DXP9_HUMAN			YES	ACTR1A,missense_variant,p.Tyr92Phe,ENST00000369905,NM_005736.3;ACTR1A,missense_variant,p.Tyr92Phe,ENST00000487599,;ACTR1A,missense_variant,p.Tyr18Phe,ENST00000545684,;ACTR1A,missense_variant,p.Tyr45Phe,ENST00000446605,;RP11-18I14.11,downstream_gene_variant,,ENST00000608017,;ACTR1A,non_coding_transcript_exon_variant,,ENST00000481044,;ACTR1A,non_coding_transcript_exon_variant,,ENST00000480947,;ACTR1A,upstream_gene_variant,,ENST00000470322,;ACTR1A,upstream_gene_variant,,ENST00000494549,;							MODERATE	275/1131	Y92F	ACTZ_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000358921		CCDS7536.1			1	
BIRC6	0	LGGM	GRCh37	2	32626307	32626307	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	107	17	.	.	ENST00000421745.2:c.1111A>C	p.Thr371Pro	p.T371P	ENST00000421745	NM_016252.3	371	Act/Cct	0	1	1	UPI0001611442	0	NA	ENST00000421745		ENSG00000115760	13516		124	1.845		HGNC	p.T371P		BIRC6		SNV							ENST00000421745	protein_coding	getma.org/?cm=var&var=hg19,2,32626307,A,C&fts=all		Gene3D:1.10.1170.10,hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93,Superfamily_domains:SSF57924		T/P		C	low	1245/15703		getma.org/?cm=msa&ty=f&p=BIRC6_HUMAN&rb=360&re=559&var=T371P					YES	BIRC6,missense_variant,p.Thr371Pro,ENST00000421745,NM_016252.3;BIRC6,non_coding_transcript_exon_variant,,ENST00000466527,;							MODERATE	1111/14574	T371P	BIRC6_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000393596		CCDS33175.2			1	
CSRNP3	0	LGGM	GRCh37	2	166535562	166535562	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	48	18	.	.	ENST00000314499.7:c.1057T>C	p.Cys353Arg	p.C353R	ENST00000314499	NM_001172173.1	353	Tgc/Cgc	0	1	1	UPI0000136882	0	NA	ENST00000314499		ENSG00000178662	30729		66	1.04		HGNC	p.C353R	rs763548669	CSRNP3		SNV							ENST00000421875	protein_coding	getma.org/?cm=var&var=hg19,2,166535562,T,C&fts=all		hmmpanther:PTHR13580:SF13,hmmpanther:PTHR13580		C/R		C	low	1433/11788	1.50E-05	getma.org/?cm=msa&ty=f&p=CSRN3_HUMAN&rb=291&re=583&var=C353R	deleterious(0.03)	E7EN18_HUMAN,B8ZZD9_HUMAN			YES	CSRNP3,missense_variant,p.Cys353Arg,ENST00000314499,NM_001172173.1;CSRNP3,missense_variant,p.Cys353Arg,ENST00000342316,NM_024969.3;CSRNP3,missense_variant,p.Cys385Arg,ENST00000409420,;CSRNP3,missense_variant,p.Cys353Arg,ENST00000421875,;CSRNP3,downstream_gene_variant,,ENST00000409664,;							MODERATE	1057/1758	C353R	CSRN3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000318258	8.24E-06	CCDS2225.1			1	
XIRP2	0	LGGM	GRCh37	2	168107798	168107798	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	56	18	.	.	ENST00000409195.1:c.9896T>C	p.Val3299Ala	p.V3299A	ENST00000409195	NM_152381.5	3299	gTt/gCt	0	1	1	UPI0000E9BBED	0	NA	ENST00000409195		ENSG00000163092	14303		74	1.995		HGNC	p.V3077A		XIRP2		SNV							ENST00000409273	protein_coding	getma.org/?cm=var&var=hg19,2,168107798,T,C&fts=all		hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		V/A		C	medium	9985/12675		getma.org/?cm=msa&ty=f&p=XIRP2_HUMAN&rb=1694&re=3372&var=V3124A		J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Val3299Ala,ENST00000409195,NM_152381.5;XIRP2,missense_variant,p.Val3299Ala,ENST00000295237,;XIRP2,missense_variant,p.Val3077Ala,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;							MODERATE	9896/10650	V3124A				Transcript		probably_damaging(0.998)	.	ENSP00000386840		CCDS42769.1			1	
IGF2R	0	LGGM	GRCh37	6	160482622	160482622	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	48	18	.	.	ENST00000356956.1:c.3350A>G	p.Lys1117Arg	p.K1117R	ENST00000356956	NM_000876.2	1117	aAg/aGg	0	1	1	UPI0000072478	0	getma.org/pdb.php?prot=MPRI_HUMAN&from=1031&to=1178&var=K1117R	ENST00000356956		ENSG00000197081	5467		66	1.065		HGNC	p.K1117R	rs758227931	IGF2R		SNV							ENST00000356956	protein_coding	getma.org/?cm=var&var=hg19,6,160482622,A,G&fts=all		hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911		K/R		G	low	3498/9091	1.50E-05	getma.org/?cm=msa&ty=f&p=MPRI_HUMAN&rb=1031&re=1178&var=K1117R	tolerated(0.27)	A0N9R7_HUMAN,A0N9R6_HUMAN			YES	IGF2R,missense_variant,p.Lys1117Arg,ENST00000356956,NM_000876.2;							MODERATE	3350/7476	K1117R	MPRI_HUMAN			Transcript		benign(0.013)	.	ENSP00000349437	8.24E-06	CCDS5273.1			1	
GCSAM	0	LGGM	GRCh37	3	111842344	111842344	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	59	18	.	.	ENST00000484193.1:c.501T>C	p.Arg167=	p.R167=	ENST00000484193		167	cgT/cgC	0	1		UPI000000D7DB	0		ENST00000308910		ENSG00000174500	20253		77			HGNC	p.R167R		GCSAM		SNV							ENST00000484193	protein_coding					R		G		680/3336				C9JY41_HUMAN,C9IY73_HUMAN				GCSAM,synonymous_variant,p.=,ENST00000308910,NM_001190259.1,NM_001190260.1,NM_152785.4;GCSAM,synonymous_variant,p.=,ENST00000484193,;GCSAM,synonymous_variant,p.=,ENST00000460387,;GCSAM,downstream_gene_variant,,ENST00000488580,;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,;							LOW	495/537		GCSAM_HUMAN			Transcript			.	ENSP00000309487		CCDS2964.1			1	
AHCTF1	0	LGGM	GRCh37	1	247013108	247013108	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	89	18	.	.	ENST00000326225.3:c.6227A>T	p.Glu2076Val	p.E2076V	ENST00000326225	NM_015446.4	2076	gAa/gTa	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		107	0.895		HGNC	p.E2102V		AHCTF1		SNV							ENST00000366508	protein_coding	getma.org/?cm=var&var=hg19,1,247013108,T,A&fts=all		hmmpanther:PTHR21583		E/V		A	low	6324/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=1052&re=2264&var=E2067V	tolerated(0.19)	C9J5C5_HUMAN			YES	AHCTF1,missense_variant,p.Glu2102Val,ENST00000366508,;AHCTF1,missense_variant,p.Glu2076Val,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Glu2067Val,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,downstream_gene_variant,,ENST00000483900,;AHCTF1,missense_variant,p.Glu15Val,ENST00000498601,;							MODERATE	6227/6828	E2067V	ELYS_HUMAN			Transcript		benign(0.234)	.	ENSP00000355465		CCDS1629.2			1	
DNTT	0	LGGM	GRCh37	10	98079148	98079148	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	64	19	.	.	ENST00000371174.2:c.507+1G>T		p.X169_splice	ENST00000371174				0	1	1	UPI000013C84B	0		ENST00000371174		ENSG00000107447	2983		83			HGNC	-		DNTT		SNV							ENST00000419175	protein_coding							T		-/1972							YES	DNTT,splice_donor_variant,,ENST00000419175,NM_004088.3,NM_001017520.1;DNTT,splice_donor_variant,,ENST00000371174,;							HIGH	507/1530		TDT_HUMAN			Transcript			.	ENSP00000360216		CCDS7447.1			1	
CAMSAP3	0	LGGM	GRCh37	19	7670110	7670110	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	47	19	.	.	ENST00000446248.2:c.149-2A>G		p.X50_splice	ENST00000446248	NM_001080429.2			0	1		UPI0000197405	0		ENST00000160298		ENSG00000076826	29307		66			HGNC	-		CAMSAP3		SNV							ENST00000446248	protein_coding							G		-/3889				Q8WZ12_HUMAN				CAMSAP3,splice_acceptor_variant,,ENST00000446248,NM_001080429.2;CAMSAP3,splice_acceptor_variant,,ENST00000160298,NM_020902.1;							HIGH	149/3750		CAMP3_HUMAN			Transcript			.	ENSP00000160298		CCDS42489.1			1	
COPG1	0	LGGM	GRCh37	3	128979175	128979175	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	43	19	.	.	ENST00000314797.6:c.872-1G>T		p.X291_splice	ENST00000314797	NM_016128.3			0	1	1	UPI000000095F	0		ENST00000314797		ENSG00000181789	2236		62			HGNC	-		COPG1		SNV							ENST00000314797	protein_coding							T		-/3076				Q8WUI6_HUMAN			YES	COPG1,splice_acceptor_variant,,ENST00000314797,NM_016128.3;COPG1,splice_acceptor_variant,,ENST00000515725,;COPG1,non_coding_transcript_exon_variant,,ENST00000504547,;COPG1,upstream_gene_variant,,ENST00000513410,;							HIGH	872/2625		COPG1_HUMAN			Transcript			.	ENSP00000325002		CCDS33851.1			1	
UBXN10	0	LGGM	GRCh37	1	20517339	20517339	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	35	19	.	.	ENST00000375099.3:c.285G>A	p.Glu95=	p.E95=	ENST00000375099	NM_152376.3	95	gaG/gaA	0	1	1	UPI000000DBEB	0		ENST00000375099		ENSG00000162543	26354		54			HGNC	p.E95E		UBXN10		SNV							ENST00000375099	protein_coding			hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF25		E		A		369/5571							YES	UBXN10,synonymous_variant,p.=,ENST00000375099,NM_152376.3;UBXN10-AS1,upstream_gene_variant,,ENST00000442226,;							LOW	285/843		UBX10_HUMAN			Transcript			.	ENSP00000364240		CCDS205.1			1	
TRPM2	0	LGGM	GRCh37	21	45815322	45815322	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	36	19	.	.	ENST00000397928.1:c.1820T>A	p.Leu607His	p.L607H	ENST00000397928	NM_003307.3	607	cTc/cAc	0	1		UPI0000169D60	0	NA	ENST00000300482		ENSG00000142185	12339		55	1.79		HGNC	p.L607H		TRPM2		SNV							ENST00000397932	protein_coding	getma.org/?cm=var&var=hg19,21,45815322,T,A&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2		L/H		A	low	2033/5989		getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=601&re=800&var=L607H	tolerated(0.15)	C9JZQ8_HUMAN				TRPM2,missense_variant,p.Leu607His,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Leu607His,ENST00000300482,;TRPM2,missense_variant,p.Leu587His,ENST00000300481,;TRPM2,missense_variant,p.Leu607His,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;							MODERATE	1820/4512	L607H	TRPM2_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000300482		CCDS13710.1			1	
NBPF10	0	LGGM	GRCh37	1	145299882	145299882	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	155	20	.	.	ENST00000342960.5:c.931G>C	p.Glu311Gln	p.E311Q	ENST00000342960	NM_001039703.5	311	Gag/Cag	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		175	0.95		HGNC	p.E40Q		NBPF10		SNV							ENST00000369338	protein_coding	getma.org/?cm=var&var=hg19,1,145299882,G,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		E/Q		C	low	966/10697		getma.org/?cm=msa&ty=f&p=H7BY67_HUMAN&rb=1&re=200&var=E53Q		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Glu311Gln,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Glu40Gln,ENST00000369338,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,intron_variant,,ENST00000369339,;NBPF10,upstream_gene_variant,,ENST00000605176,;NBPF10,missense_variant,p.Glu311Gln,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;							MODERATE	931/10662	E53Q				Transcript		possibly_damaging(0.468)	.	ENSP00000345684					1	
ZNF804B	0	LGGM	GRCh37	7	88965685	88965685	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	35	21	.	.	ENST00000333190.4:c.3389A>G	p.Asp1130Gly	p.D1130G	ENST00000333190	NM_181646.2	1130	gAc/gGc	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		56	1.79		HGNC	p.D1130G		ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88965685,A,G&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		D/G		G	low	3998/4659		getma.org/?cm=msa&ty=f&p=Z804B_HUMAN&rb=1130&re=1347&var=D1130G	tolerated(0.07)				YES	ZNF804B,missense_variant,p.Asp1130Gly,ENST00000333190,NM_181646.2;							MODERATE	3389/4050	D1130G	Z804B_HUMAN			Transcript		benign(0.113)	.	ENSP00000329638		CCDS5613.1			1	
ETV1	0	LGGM	GRCh37	7	13975498	13975498	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	24	22	.	.	ENST00000405192.2:c.389T>A	p.Val130Glu	p.V130E	ENST00000405192	NM_001163147.1	130	gTg/gAg	0	1		UPI000012A26E	0	NA	ENST00000405218		ENSG00000006468	3490		46	1.355		HGNC	p.V90E		ETV1		SNV			1				ENST00000403527	protein_coding	getma.org/?cm=var&var=hg19,7,13975498,A,T&fts=all		Pfam_domain:PF04621,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF160		V/E		T	low	861/3391		getma.org/?cm=msa&ty=f&p=ETV1_HUMAN&rb=1&re=333&var=V130E	tolerated(0.48)	C9J9L1_HUMAN,C9J4P4_HUMAN,C9J0B7_HUMAN				ETV1,missense_variant,p.Val112Glu,ENST00000343495,;ETV1,missense_variant,p.Val130Glu,ENST00000430479,NM_004956.4;ETV1,missense_variant,p.Val112Glu,ENST00000242066,NM_001163148.1;ETV1,missense_variant,p.Val72Glu,ENST00000420159,NM_001163151.1;ETV1,missense_variant,p.Val130Glu,ENST00000405192,NM_001163147.1;ETV1,missense_variant,p.Val144Glu,ENST00000405358,;ETV1,missense_variant,p.Val130Glu,ENST00000405218,;ETV1,missense_variant,p.Val90Glu,ENST00000403527,NM_001163150.1;ETV1,missense_variant,p.Val112Glu,ENST00000403685,NM_001163149.1;ETV1,missense_variant,p.Val72Glu,ENST00000438956,;ETV1,intron_variant,,ENST00000399357,NM_001163152.1;ETV1,intron_variant,,ENST00000443608,;ETV1,downstream_gene_variant,,ENST00000431887,;ETV1,downstream_gene_variant,,ENST00000421381,;ETV1,non_coding_transcript_exon_variant,,ENST00000476720,;ETV1,non_coding_transcript_exon_variant,,ENST00000497115,;ETV1,missense_variant,p.Val130Glu,ENST00000443137,;ETV1,non_coding_transcript_exon_variant,,ENST00000472931,;ETV1,non_coding_transcript_exon_variant,,ENST00000476355,;							MODERATE	389/1434	V130E	ETV1_HUMAN			Transcript		benign(0.253)	.	ENSP00000385551		CCDS55088.1			1	
H2BFM	0	LGGM	GRCh37	X	103294481	103294481	+	upstream_gene_variant	5'Flank	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	19	22	.	.				ENST00000355016	NM_001164416.1			0	1	1	UPI0000161AB5	0		ENST00000355016		ENSG00000101812	27867		41		35	HGNC	p.T83A		H2BFM		SNV							ENST00000243297	protein_coding							G		-/1882				A9UJN3_HUMAN			YES	H2BFM,missense_variant,p.Thr83Ala,ENST00000243297,;H2BFM,upstream_gene_variant,,ENST00000355016,NM_001164416.1;H2BFM,upstream_gene_variant,,ENST00000417637,;							MODIFIER	-/465					Transcript			.	ENSP00000347119		CCDS55468.1			1	
DIRC1	0	LGGM	GRCh37	2	189599387	189599387	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	69	23	.	.	ENST00000308100.4:c.261del	p.Lys87AsnfsTer6	p.K87Nfs*6	ENST00000308100	NM_052952.2	87	aaG/aa	0	1	1	UPI000006FA16	0		ENST00000308100		ENSG00000174325	15760		92			HGNC	p.K87fs		DIRC1		deletion							ENST00000308100	protein_coding					K/X		-		532/1037							YES	DIRC1,frameshift_variant,p.Lys87AsnfsTer6,ENST00000308100,NM_052952.2;AC079613.1,intron_variant,,ENST00000431708,;							HIGH	261/315		DIRC1_HUMAN			Transcript			.	ENSP00000307860		CCDS2296.1			1	
DOCK7	0	LGGM	GRCh37	1	62943427	62943427	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	44	27	.	.	ENST00000340370.5:c.5485T>C	p.Phe1829Leu	p.F1829L	ENST00000340370	NM_033407.3	1829	Ttt/Ctt	0	1	1	UPI000044FEA9	0	getma.org/pdb.php?prot=DOCK7_HUMAN&from=1580&to=2103&var=F1860L	ENST00000340370		ENSG00000116641	19190		71	3.1		HGNC	p.F1849L		DOCK7		SNV			1				ENST00000251157	protein_coding	getma.org/?cm=var&var=hg19,1,62943427,A,G&fts=all		PROSITE_profiles:PS51651,hmmpanther:PTHR23317:SF78,hmmpanther:PTHR23317		F/L		G	medium	5503/6864		getma.org/?cm=msa&ty=f&p=DOCK7_HUMAN&rb=1580&re=2103&var=F1860L	deleterious(0)				YES	DOCK7,missense_variant,p.Phe1849Leu,ENST00000251157,NM_001272001.1,NM_001271999.1;DOCK7,missense_variant,p.Phe1829Leu,ENST00000340370,NM_033407.3,NM_001272000.1;DOCK7,missense_variant,p.Phe1023Leu,ENST00000454575,;DOCK7,non_coding_transcript_exon_variant,,ENST00000489185,;DOCK7,upstream_gene_variant,,ENST00000467758,;							MODERATE	5485/6330	F1860L	DOCK7_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000340742		CCDS30734.1			1	
OR4N5	0	LGGM	GRCh37	14	20612048	20612048	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	121	27	.	.	ENST00000333629.1:c.154G>A	p.Asp52Asn	p.D52N	ENST00000333629	NM_001004724.1	52	Gac/Aac	0	1	1	UPI0000041C40	0	getma.org/pdb.php?prot=OR4N5_HUMAN&from=1&to=138&var=D52N	ENST00000333629		ENSG00000184394	15358		148	2.145		HGNC	p.D52N		OR4N5		SNV							ENST00000333629	protein_coding	getma.org/?cm=var&var=hg19,14,20612048,G,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF40,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		D/N		A	medium	154/927		getma.org/?cm=msa&ty=f&p=OR4N5_HUMAN&rb=1&re=138&var=D52N	deleterious(0.05)				YES	OR4N5,missense_variant,p.Asp52Asn,ENST00000333629,NM_001004724.1;RNA5SP381,downstream_gene_variant,,ENST00000516076,;							MODERATE	154/927	D52N	OR4N5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000332110		CCDS32031.1			1	
GLI3	0	LGGM	GRCh37	7	42011979	42011979	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	60	28	.	.	ENST00000395925.3:c.2060A>G	p.Glu687Gly	p.E687G	ENST00000395925	NM_000168.5	687	gAa/gGa	0	1	1	UPI000020EE4C	0	NA	ENST00000395925		ENSG00000106571	4319		88	2.705		HGNC	p.E687G		GLI3		SNV			1				ENST00000395925	protein_coding	getma.org/?cm=var&var=hg19,7,42011979,T,C&fts=all		hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		E/G		C	medium	2145/8208		getma.org/?cm=msa&ty=f&p=GLI3_HUMAN&rb=681&re=1089&var=E687G	deleterious(0)	C9J9N4_HUMAN			YES	GLI3,missense_variant,p.Glu687Gly,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;GLI3,downstream_gene_variant,,ENST00000464291,;							MODERATE	2060/4743	E687G	GLI3_HUMAN			Transcript		possibly_damaging(0.786)	.	ENSP00000379258		CCDS5465.1			1	
C5orf42	0	LGGM	GRCh37	5	37168958	37168958	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	40	28	.	.	ENST00000425232.2:c.7168A>T	p.Ile2390Leu	p.I2390L	ENST00000425232	NM_023073.3	2390	Ata/Tta	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		68	0.55		HGNC	p.I1270L		C5orf42		SNV			1				ENST00000274258	protein_coding	getma.org/?cm=var&var=hg19,5,37168958,T,A&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2		I/L		A	neutral	7399/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=691&re=1730&var=I1270L	tolerated(0.42)				YES	C5orf42,missense_variant,p.Ile1270Leu,ENST00000274258,;C5orf42,missense_variant,p.Ile2390Leu,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Ile2390Leu,ENST00000508244,;C5orf42,missense_variant,p.Ile1438Leu,ENST00000514429,;C5orf42,missense_variant,p.Ile81Leu,ENST00000511824,;C5orf42,missense_variant,p.Ile1394Leu,ENST00000509849,;C5orf42,downstream_gene_variant,,ENST00000511781,;							MODERATE	7168/9594	I1270L	CE042_HUMAN			Transcript		benign(0.002)	.	ENSP00000389014		CCDS34146.2			1	
WDR87	0	LGGM	GRCh37	19	38384156	38384156	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	63	29	.	.	ENST00000303868.5:c.2070G>A	p.Val690=	p.V690=	ENST00000303868	NM_031951.3	690	gtG/gtA	0	1	1	UPI0001662BC1	0		ENST00000303868		ENSG00000171804	29934		92			HGNC	p.V690V		WDR87		SNV							ENST00000303868	protein_coding			hmmpanther:PTHR19852,hmmpanther:PTHR19852:SF18		V		T		2295/8847				B4DXE9_HUMAN			YES	WDR87,synonymous_variant,p.=,ENST00000447313,;WDR87,synonymous_variant,p.=,ENST00000303868,NM_031951.3;WDR87,downstream_gene_variant,,ENST00000473328,;							LOW	2070/8622		WDR87_HUMAN			Transcript			.	ENSP00000368025		CCDS46063.1			1	
ITGAM	0	LGGM	GRCh37	16	31338223	31338223	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110362	H110362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	88	29	.	.	ENST00000544665.3:c.2678G>T	p.Gly893Val	p.G893V	ENST00000544665	NM_001145808.1	893	gGa/gTa	0	1		UPI00000498C2	0	getma.org/pdb.php?prot=ITAM_HUMAN&from=614&to=1032&var=G892V	ENST00000287497		ENSG00000169896	6149		117	2.6		HGNC	p.G892V		ITGAM		SNV			1				ENST00000287497	protein_coding	getma.org/?cm=var&var=hg19,16,31338223,G,T&fts=all		hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:2.60.40.1510,Pfam_domain:PF08441,Superfamily_domains:SSF69179		G/V		T	medium	2750/3595		getma.org/?cm=msa&ty=f&p=ITAM_HUMAN&rb=614&re=1032&var=G892V	deleterious(0)	B3KXM6_HUMAN				ITGAM,missense_variant,p.Gly893Val,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,missense_variant,p.Gly892Val,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,;							MODERATE	2675/3459	G892V	ITAM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000287497		CCDS45470.1			1	
ZNF611	0	LGGM	GRCh37	19	53208749	53208749	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	79	31	.	.	ENST00000543227.1:c.1559G>A	p.Ser520Asn	p.S520N	ENST00000543227	NM_001161499.1	520	aGt/aAt	0	1		UPI00001406C1	0	getma.org/pdb.php?prot=ZN611_HUMAN&from=496&to=521&var=S520N	ENST00000319783		ENSG00000213020	28766		110	1.455		HGNC	p.S520N		ZNF611		SNV							ENST00000543227	protein_coding	getma.org/?cm=var&var=hg19,19,53208749,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF233,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/N		T	low	1876/3153		getma.org/?cm=msa&ty=f&p=ZN611_HUMAN&rb=476&re=541&var=S520N	tolerated(0.27)	M0QYR0_HUMAN				ZNF611,missense_variant,p.Ser520Asn,ENST00000543227,NM_001161499.1;ZNF611,missense_variant,p.Ser520Asn,ENST00000540744,NM_001161500.1;ZNF611,missense_variant,p.Ser451Asn,ENST00000453741,NM_001161501.1;ZNF611,missense_variant,p.Ser451Asn,ENST00000602162,;ZNF611,missense_variant,p.Ser520Asn,ENST00000319783,NM_030972.3;ZNF611,missense_variant,p.Ser451Asn,ENST00000595798,;ZNF611,downstream_gene_variant,,ENST00000600943,;ZNF611,downstream_gene_variant,,ENST00000596702,;ZNF611,downstream_gene_variant,,ENST00000601643,;ZNF611,downstream_gene_variant,,ENST00000602046,;ZNF611,3_prime_UTR_variant,,ENST00000595001,;ZNF611,3_prime_UTR_variant,,ENST00000601249,;ZNF611,downstream_gene_variant,,ENST00000597343,;ZNF611,downstream_gene_variant,,ENST00000598639,;ZNF611,downstream_gene_variant,,ENST00000598723,;							MODERATE	1559/2118	S520N	ZN611_HUMAN			Transcript		benign(0.381)	.	ENSP00000322427		CCDS12855.1			1	
NOS2	0	LGGM	GRCh37	17	26100236	26100236	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	100	32	.	.	ENST00000313735.6:c.1510G>C	p.Glu504Gln	p.E504Q	ENST00000313735	NM_000625.4	504	Gag/Cag	0	1	1	UPI000011D645	0	NA	ENST00000313735		ENSG00000007171	7873		132	2.28		HGNC	p.E504Q		NOS2		SNV			1				ENST00000313735	protein_coding	getma.org/?cm=var&var=hg19,17,26100236,C,G&fts=all		hmmpanther:PTHR19384:SF56,hmmpanther:PTHR19384,PIRSF_domain:PIRSF000333		E/Q		G	medium	1744/4176		getma.org/?cm=msa&ty=f&p=NOS2_HUMAN&rb=503&re=540&var=E504Q	tolerated(0.37)	Q9UM94_HUMAN			YES	NOS2,missense_variant,p.Glu504Gln,ENST00000313735,NM_000625.4;							MODERATE	1510/3462	E504Q	NOS2_HUMAN			Transcript		benign(0.091)	.	ENSP00000327251		CCDS11223.1			1	
CSMD3	0	LGGM	GRCh37	8	113694798	113694798	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	33	32	.	.	ENST00000297405.5:c.2550T>G	p.Phe850Leu	p.F850L	ENST00000297405	NM_198123.1	850	ttT/ttG	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=834&to=891&var=F850L	ENST00000297405		ENSG00000164796	19291		65	1.585		HGNC	p.F746L		CSMD3		SNV							ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113694798,A,C&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535		F/L		C	low	2795/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=834&re=891&var=F850L	tolerated(0.58)				YES	CSMD3,missense_variant,p.Phe850Leu,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Phe810Leu,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Phe850Leu,ENST00000352409,;CSMD3,missense_variant,p.Phe746Leu,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Phe190Leu,ENST00000339701,;							MODERATE	2550/11124	F850L	CSMD3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297405		CCDS6315.1			1	
ESRP1	0	LGGM	GRCh37	8	95683779	95683779	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	178	37	.	.	ENST00000433389.2:c.1332A>G	p.Arg444=	p.R444=	ENST00000433389	NM_001034915.2	444	agA/agG	0	1	1	UPI0000210327	0		ENST00000433389		ENSG00000104413	25966		215			HGNC	p.R444R		ESRP1		SNV							ENST00000423620	protein_coding			Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,Superfamily_domains:SSF54928		R		G		1522/3770				E5RI26_HUMAN,E5RGE9_HUMAN			YES	ESRP1,synonymous_variant,p.=,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,synonymous_variant,p.=,ENST00000358397,;ESRP1,synonymous_variant,p.=,ENST00000423620,NM_001122826.1;ESRP1,synonymous_variant,p.=,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,synonymous_variant,p.=,ENST00000519505,;ESRP1,synonymous_variant,p.=,ENST00000517610,;ESRP1,downstream_gene_variant,,ENST00000517556,;							LOW	1332/2046		ESRP1_HUMAN			Transcript			.	ENSP00000405738		CCDS47897.1			1	
LCE1A	0	LGGM	GRCh37	1	152799967	152799967	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110362	H110362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	49	42	.	.	ENST00000335123.2:c.19C>A	p.Gln7Lys	p.Q7K	ENST00000335123	NM_178348.2	7	Cag/Aag	0	1	1	UPI0000192766	0	NA	ENST00000335123		ENSG00000186844	29459		91	2.92		HGNC	p.Q7K		LCE1A		SNV							ENST00000335123	protein_coding	getma.org/?cm=var&var=hg19,1,152799967,C,A&fts=all		Prints_domain:PR00021,hmmpanther:PTHR23263:SF46,hmmpanther:PTHR23263,Low_complexity_(Seg):seg		Q/K		A	medium	19/625		getma.org/?cm=msa&ty=f&p=LCE1A_HUMAN&rb=1&re=110&var=Q7K	deleterious_low_confidence(0)				YES	LCE1A,missense_variant,p.Gln7Lys,ENST00000335123,NM_178348.2;							MODERATE	19/333	Q7K	LCE1A_HUMAN			Transcript		unknown(0)	.	ENSP00000334869		CCDS1028.1			1	
NEB	0	LGGM	GRCh37	2	152374859	152374859	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	144	50	.	.	ENST00000397345.3:c.22773A>G	p.Leu7591=	p.L7591=	ENST00000397345	NM_001164508.1	7591	ctA/ctG	0	1		UPI0000212787	0		ENST00000172853		ENSG00000183091	7720		194			HGNC	p.L5890L		NEB		SNV			1				ENST00000409198	protein_coding			Pfam_domain:PF00880,PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37,SMART_domains:SM00227		L		C		17818/20577				J3QK84_HUMAN				NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;NEB,synonymous_variant,p.=,ENST00000413693,;NEB,synonymous_variant,p.=,ENST00000434685,;NEB,upstream_gene_variant,,ENST00000424585,;NEB,non_coding_transcript_exon_variant,,ENST00000483418,;							LOW	17670/20010					Transcript			.	ENSP00000172853					1	
FER1L6	0	LGGM	GRCh37	8	125094592	125094592	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110362	H110362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	72	57	.	.	ENST00000522917.1:c.4284T>G	p.His1428Gln	p.H1428Q	ENST00000522917	NM_001039112.2	1428	caT/caG	0	1		UPI0000E9B4AA	0	getma.org/pdb.php?prot=FR1L6_HUMAN&from=1358&to=1441&var=H1428Q	ENST00000399018		ENSG00000214814	28065		129	1.97		HGNC	p.H1428Q		FER1L6		SNV							ENST00000399018	protein_coding	getma.org/?cm=var&var=hg19,8,125094592,T,G&fts=all		PROSITE_profiles:PS50004,hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF37,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		H/Q		G	medium	4298/5859		getma.org/?cm=msa&ty=f&p=FR1L6_HUMAN&rb=1358&re=1441&var=H1428Q	deleterious(0.02)					FER1L6,missense_variant,p.His1428Gln,ENST00000522917,NM_001039112.2;FER1L6,missense_variant,p.His1428Gln,ENST00000399018,;FER1L6-AS2,intron_variant,,ENST00000520031,;							MODERATE	4284/5574	H1428Q	FR1L6_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000381982		CCDS43767.1			1	
COL4A2	0	LGGM	GRCh37	13	111117827	111117827	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110362	H110362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110362N.bam, H110362T.bam	Illumina HiSeq	21	104	.	.	ENST00000360467.5:c.1852A>G	p.Met618Val	p.M618V	ENST00000360467	NM_001846.2	618	Atg/Gtg	0	1	1	UPI000041C713	0	getma.org/pdb.php?prot=CO4A2_HUMAN&from=553&to=678&var=M618V	ENST00000360467		ENSG00000134871	2203		125	0.135		HGNC	p.M618V		COL4A2		SNV			1				ENST00000360467	protein_coding	getma.org/?cm=var&var=hg19,13,111117827,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF366,hmmpanther:PTHR24023		M/V		G	neutral	2158/6281		getma.org/?cm=msa&ty=f&p=CO4A2_HUMAN&rb=553&re=678&var=M618V		A2A352_HUMAN			YES	COL4A2,missense_variant,p.Met618Val,ENST00000360467,NM_001846.2;COL4A2-AS2,upstream_gene_variant,,ENST00000458403,;COL4A2,upstream_gene_variant,,ENST00000494852,;COL4A2,downstream_gene_variant,,ENST00000478681,;							MODERATE	1852/5139	M618V	CO4A2_HUMAN			Transcript		possibly_damaging(0.547)	.	ENSP00000353654		CCDS41907.1			1	
DGCR2	0	LGGM	GRCh37	22	19029473	19029473	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	3	2	.	.	ENST00000263196.7:c.1007-1G>T		p.X336_splice	ENST00000263196	NM_001184781.1			0	1	1	UPI0000001613	0		ENST00000263196		ENSG00000070413	2845		5			HGNC	-		DGCR2		SNV							ENST00000537045	protein_coding							A		-/4480				B7Z8B7_HUMAN,B7Z3C4_HUMAN			YES	DGCR2,splice_acceptor_variant,,ENST00000545799,;DGCR2,splice_acceptor_variant,,ENST00000263196,NM_001184781.1,NM_005137.2;DGCR2,splice_acceptor_variant,,ENST00000537045,NM_001173533.1,NM_001173534.1;DGCR11,downstream_gene_variant,,ENST00000609958,;Y_RNA,upstream_gene_variant,,ENST00000384012,;DGCR2,splice_acceptor_variant,,ENST00000389262,;DGCR2,splice_acceptor_variant,,ENST00000467659,;							HIGH	1007/1653		IDD_HUMAN			Transcript			.	ENSP00000263196		CCDS33598.1			1	
LGALS9B	0	LGGM	GRCh37	17	20354802	20354802	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	1	2	.	.	ENST00000324290.5:c.913A>T	p.Ser305Cys	p.S305C	ENST00000324290	NM_001042685.1	305	Agc/Tgc	0	1		UPI0000D622DB	0	getma.org/pdb.php?prot=LEG9B_HUMAN&from=227&to=356&var=S306C	ENST00000423676		ENSG00000170298	24842		3	3.255		HGNC	p.S306C		LGALS9B		SNV							ENST00000423676	protein_coding	getma.org/?cm=var&var=hg19,17,20354802,T,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00276,SMART_domains:SM00908,Pfam_domain:PF00337,Gene3D:2.60.120.200,hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91,PROSITE_profiles:PS51304		S/C		A	medium	980/1713		getma.org/?cm=msa&ty=f&p=LEG9B_HUMAN&rb=227&re=356&var=S306C	deleterious(0.03)	B4DKP4_HUMAN				LGALS9B,missense_variant,p.Ser306Cys,ENST00000423676,;LGALS9B,missense_variant,p.Ser305Cys,ENST00000324290,NM_001042685.1;NOS2P3,downstream_gene_variant,,ENST00000458685,;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,downstream_gene_variant,,ENST00000581490,;LGALS9B,downstream_gene_variant,,ENST00000578724,;NOS2P3,downstream_gene_variant,,ENST00000411468,;							MODERATE	916/1071	S306C	LEG9B_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000388841					1	
TEPP	0	LGGM	GRCh37	16	58019124	58019124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	4	2	.	.	ENST00000290871.5:c.640G>T	p.Gly214Cys	p.G214C	ENST00000290871	NM_199046.2	214	Ggc/Tgc	0	1		UPI00001D7874	0	NA	ENST00000441824		ENSG00000159648	33745		6	2.7		HGNC	p.G214C		TEPP		SNV							ENST00000290871	protein_coding	getma.org/?cm=var&var=hg19,16,58019124,G,T&fts=all				G/C		T	medium	677/998		getma.org/?cm=msa&ty=f&p=TEPP_HUMAN&rb=1&re=269&var=G214C	tolerated(0.07)					TEPP,missense_variant,p.Gly214Cys,ENST00000290871,NM_199046.2;TEPP,missense_variant,p.Gly214Cys,ENST00000441824,NM_199456.2;TEPP,non_coding_transcript_exon_variant,,ENST00000569996,;TEPP,non_coding_transcript_exon_variant,,ENST00000562915,;							MODERATE	640/816	G214C	TEPP_HUMAN			Transcript		unknown(0)	.	ENSP00000401917		CCDS45496.1			1	
ESRRA	0	LGGM	GRCh37	11	64082697	64082697	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	12	2	.	.	ENST00000405666.1:c.967C>A	p.Arg323=	p.R323=	ENST00000405666	NM_001282450.1	323	Cga/Aga	0	1		UPI0000167B87	0		ENST00000000442		ENSG00000173153	3471		14			HGNC	p.R323R		ESRRA		SNV							ENST00000405666	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24084,Pfam_domain:PF00104,Gene3D:1.10.565.10,PIRSF_domain:PIRSF500939,SMART_domains:SM00430,PIRSF_domain:PIRSF002527,Superfamily_domains:SSF48508,Prints_domain:PR00398		R		A		1138/2215				Q96I02_HUMAN,Q96F89_HUMAN,Q569H8_HUMAN,F5H0E9_HUMAN,F5GWT5_HUMAN				ESRRA,synonymous_variant,p.=,ENST00000405666,NM_001282450.1;ESRRA,synonymous_variant,p.=,ENST00000406310,NM_004451.3,NM_001282451.1;ESRRA,synonymous_variant,p.=,ENST00000000442,;ESRRA,synonymous_variant,p.=,ENST00000545035,;TRMT112,downstream_gene_variant,,ENST00000544844,;PRDX5,upstream_gene_variant,,ENST00000265462,NM_012094.4;TRMT112,downstream_gene_variant,,ENST00000535750,;ESRRA,downstream_gene_variant,,ENST00000539594,;TRMT112,downstream_gene_variant,,ENST00000535126,;TRMT112,downstream_gene_variant,,ENST00000539854,;PRDX5,upstream_gene_variant,,ENST00000352435,NM_181651.2;TRMT112,downstream_gene_variant,,ENST00000308774,NM_016404.1,NM_001286082.1;PRDX5,upstream_gene_variant,,ENST00000347941,NM_181652.2;ESRRA,intron_variant,,ENST00000467987,;TRMT112,downstream_gene_variant,,ENST00000537918,;							LOW	967/1272		ERR1_HUMAN			Transcript			.	ENSP00000000442		CCDS41667.1			1	
SLC4A5	0	LGGM	GRCh37	2	74483014	74483014	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	15	2	.	.	ENST00000377634.4:c.913T>C	p.Ser305Pro	p.S305P	ENST00000377634		305	Tcc/Ccc	0	1		UPI000007386D	0	getma.org/pdb.php?prot=S4A5_HUMAN&from=141&to=408&var=S305P	ENST00000346834		ENSG00000188687	18168		17	3.485		HGNC	p.S241P		SLC4A5		SNV							ENST00000359484	protein_coding	getma.org/?cm=var&var=hg19,2,74483014,A,G&fts=all		hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF20,Pfam_domain:PF07565,Gene3D:1hynR00,TIGRFAM_domain:TIGR00834,Superfamily_domains:SSF55804		S/P		G	medium	1311/6104		getma.org/?cm=msa&ty=f&p=S4A5_HUMAN&rb=141&re=408&var=S305P	deleterious(0)	Q9UDR3_HUMAN,Q53QY5_HUMAN,C9JW32_HUMAN,C9JU12_HUMAN,C9JNL6_HUMAN				SLC4A5,missense_variant,p.Ser305Pro,ENST00000394019,NM_133478.2;SLC4A5,missense_variant,p.Ser305Pro,ENST00000423644,;SLC4A5,missense_variant,p.Ser305Pro,ENST00000346834,;SLC4A5,missense_variant,p.Ser241Pro,ENST00000359484,;SLC4A5,missense_variant,p.Ser305Pro,ENST00000377634,;SLC4A5,missense_variant,p.Ser305Pro,ENST00000357822,NM_021196.3;SLC4A5,missense_variant,p.Ser241Pro,ENST00000358683,;SLC4A5,missense_variant,p.Ser305Pro,ENST00000377632,;SLC4A5,missense_variant,p.Ser305Pro,ENST00000425249,;SLC4A5,non_coding_transcript_exon_variant,,ENST00000483195,;RP11-287D1.3,3_prime_UTR_variant,,ENST00000451608,;							MODERATE	913/3123	S305P	S4A5_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000251768					1	
AICDA	0	LGGM	GRCh37	12	8757952	8757952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	10	2	.	.	ENST00000229335.6:c.286G>T	p.Asp96Tyr	p.D96Y	ENST00000229335	NM_020661.2	96	Gac/Tac	0	1	1	UPI000000171E	0	getma.org/pdb.php?prot=AICDA_HUMAN&from=11&to=181&var=D96Y	ENST00000229335		ENSG00000111732	13203		12	1.935		HGNC	p.D96Y	COSM944181	AICDA		SNV			1			1	ENST00000229335	protein_coding	getma.org/?cm=var&var=hg19,12,8757952,C,A&fts=all		Pfam_domain:PF08210,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF10,Superfamily_domains:SSF53927		D/Y		A	medium	390/2819		getma.org/?cm=msa&ty=f&p=AICDA_HUMAN&rb=11&re=181&var=D96Y	deleterious(0.04)	Q7Z599_HUMAN,Q5XM85_HUMAN,Q546Y9_HUMAN,A3QRX5_HUMAN			YES	AICDA,missense_variant,p.Asp96Tyr,ENST00000229335,NM_020661.2;AICDA,missense_variant,p.Asp95Tyr,ENST00000543081,;AICDA,missense_variant,p.Asp96Tyr,ENST00000537228,;AICDA,missense_variant,p.Asp95Tyr,ENST00000545512,;AICDA,intron_variant,,ENST00000544516,;AICDA,non_coding_transcript_exon_variant,,ENST00000545576,;					1		MODERATE	286/597	D96Y	AICDA_HUMAN			Transcript		benign(0.284)	.	ENSP00000229335		CCDS41747.1			1	
GRIK5	0	LGGM	GRCh37	19	42509996	42509996	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	6	2	.	.	ENST00000262895.3:c.2142C>A	p.Asn714Lys	p.N714K	ENST00000262895	NM_002088.4	714	aaC/aaA	0	1	1	UPI000013D353	0	getma.org/pdb.php?prot=GRIK5_HUMAN&from=543&to=815&var=N714K	ENST00000262895		ENSG00000105737	4583		8	-0.5		HGNC	p.N714K		GRIK5		SNV							ENST00000262895	protein_coding	getma.org/?cm=var&var=hg19,19,42509996,G,T&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF53850		N/K		T	neutral	2142/3493		getma.org/?cm=msa&ty=f&p=GRIK5_HUMAN&rb=543&re=815&var=N714K	tolerated(0.34)				YES	GRIK5,missense_variant,p.Asn714Lys,ENST00000262895,NM_002088.4;GRIK5,missense_variant,p.Asn714Lys,ENST00000301218,;GRIK5,missense_variant,p.Asn714Lys,ENST00000593562,;GRIK5,non_coding_transcript_exon_variant,,ENST00000454993,;GRIK5,upstream_gene_variant,,ENST00000602210,;							MODERATE	2142/2943	N714K	GRIK5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262895		CCDS12595.1			1	
DNAJA4	0	LGGM	GRCh37	15	78566714	78566714	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	16	2	.	.	ENST00000394855.3:c.681C>A	p.Ser227Arg	p.S227R	ENST00000394855	NM_018602.3	227	agC/agA	0	1		UPI0000129433	0	getma.org/pdb.php?prot=DNJA4_HUMAN&from=135&to=201&var=S198R	ENST00000343789		ENSG00000140403	14885		18	0.32		HGNC	p.S227R		DNAJA4		SNV							ENST00000394855	protein_coding	getma.org/?cm=var&var=hg19,15,78566714,C,A&fts=all		HAMAP:MF_01152,PROSITE_profiles:PS51188,hmmpanther:PTHR24076,hmmpanther:PTHR24076:SF75,Gene3D:2.10.230.10,Pfam_domain:PF00684,Superfamily_domains:SSF57938		S/R		A	neutral	625/2961		getma.org/?cm=msa&ty=f&p=DNJA4_HUMAN&rb=135&re=201&var=S198R	tolerated(0.23)	Q8N2A9_HUMAN,Q7Z4D5_HUMAN,C9JDE6_HUMAN				DNAJA4,missense_variant,p.Ser227Arg,ENST00000394855,NM_018602.3;DNAJA4,missense_variant,p.Ser198Arg,ENST00000394852,NM_001130182.1;DNAJA4,missense_variant,p.Ser198Arg,ENST00000343789,;DNAJA4,missense_variant,p.Ser171Arg,ENST00000446172,NM_001130183.1;WDR61,downstream_gene_variant,,ENST00000560807,;WDR61,downstream_gene_variant,,ENST00000558453,;DNAJA4,missense_variant,p.Ser198Arg,ENST00000483802,;DNAJA4,missense_variant,p.Ser198Arg,ENST00000440911,;DNAJA4,3_prime_UTR_variant,,ENST00000542636,;DNAJA4,non_coding_transcript_exon_variant,,ENST00000485075,;DNAJA4,upstream_gene_variant,,ENST00000480425,;DNAJA4,upstream_gene_variant,,ENST00000493321,;DNAJA4,downstream_gene_variant,,ENST00000423642,;							MODERATE	594/1194	S198R	DNJA4_HUMAN			Transcript		benign(0.247)	.	ENSP00000339581		CCDS45316.1			1	
ALOX12	0	LGGM	GRCh37	17	6901830	6901830	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	12	2	.	.	ENST00000251535.6:c.340C>A	p.Arg114Ser	p.R114S	ENST00000251535	NM_000697.2	114	Cgc/Agc	0	1	1	UPI000013CD03	0	getma.org/pdb.php?prot=LOX12_HUMAN&from=2&to=114&var=R114S	ENST00000251535		ENSG00000108839	429		14	2.25		HGNC	p.R17S		ALOX12		SNV			1				ENST00000480801	protein_coding	getma.org/?cm=var&var=hg19,17,6901830,C,A&fts=all		PROSITE_profiles:PS50095,PROSITE_profiles:PS51393,hmmpanther:PTHR11771,hmmpanther:PTHR11771:SF4,Superfamily_domains:SSF48484		R/S		A	medium	393/2358		getma.org/?cm=msa&ty=f&p=LOX12_HUMAN&rb=2&re=114&var=R114S	tolerated(0.07)				YES	ALOX12,missense_variant,p.Arg114Ser,ENST00000251535,NM_000697.2;ALOX12,missense_variant,p.Arg17Ser,ENST00000480801,;AC027763.2,intron_variant,,ENST00000399541,;AC027763.2,intron_variant,,ENST00000575889,;AC027763.2,downstream_gene_variant,,ENST00000399540,;AC027763.2,downstream_gene_variant,,ENST00000574377,;AC027763.2,downstream_gene_variant,,ENST00000575727,;AC027763.2,downstream_gene_variant,,ENST00000573939,;RP11-589P10.5,upstream_gene_variant,,ENST00000573222,;RP11-589P10.7,intron_variant,,ENST00000572547,;AC027763.2,intron_variant,,ENST00000572385,;AC027763.2,intron_variant,,ENST00000570562,;AC027763.2,downstream_gene_variant,,ENST00000571010,;							MODERATE	340/1992	R114S	LOX12_HUMAN			Transcript		benign(0.045)	.	ENSP00000251535		CCDS11084.1			1	
GNA12	0	LGGM	GRCh37	7	2883598	2883598	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	8	2	.	.	ENST00000275364.3:c.198C>A	p.Gly66=	p.G66=	ENST00000275364	NM_007353.2	66	ggC/ggA	0	1	1	UPI000013DA5B	0		ENST00000275364		ENSG00000146535	4380		10			HGNC	p.G66G		GNA12		SNV							ENST00000275364	protein_coding			Prints_domain:PR00318,Superfamily_domains:SSF52540,SMART_domains:SM00275,Pfam_domain:PF00503,Gene3D:3.40.50.300,hmmpanther:PTHR10218:SF130,hmmpanther:PTHR10218		G		T		361/4378							YES	GNA12,synonymous_variant,p.=,ENST00000275364,NM_007353.2;GNA12,5_prime_UTR_variant,,ENST00000544127,;							LOW	198/1146		GNA12_HUMAN			Transcript			.	ENSP00000275364		CCDS5335.1			1	
FMN2	0	LGGM	GRCh37	1	240256883	240256883	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	9	2	.	.	ENST00000319653.9:c.1474C>A	p.Arg492Ser	p.R492S	ENST00000319653	NM_020066.4	492	Cgc/Agc	0	1	1	UPI00015FA087	0	NA	ENST00000319653		ENSG00000155816	14074		11	0.55		HGNC	p.R492S		FMN2		SNV			1				ENST00000319653	protein_coding	getma.org/?cm=var&var=hg19,1,240256883,C,A&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185		R/S		A	neutral	1704/6434		getma.org/?cm=msa&ty=f&p=FMN2_HUMAN&rb=401&re=529&var=R492S		Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,missense_variant,p.Arg492Ser,ENST00000319653,NM_020066.4;FMN2,intron_variant,,ENST00000447095,;							MODERATE	1474/5169	R492S	FMN2_HUMAN			Transcript		unknown(0)	.	ENSP00000318884		CCDS31069.2			1	
TMEM184A	0	LGGM	GRCh37	7	1586662	1586663	+	inframe_insertion	In_Frame_Ins	INS	-	-	GCC	novel	by Submitter	H110379	H110379N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	2	4	.	.	ENST00000297477.5:c.1167_1168insGGC	p.Pro389_Ser390insGly	p.P389_S390insG	ENST00000297477	NM_001097620.1	389	-/GGC	0	1	1	UPI000013E413	0		ENST00000297477		ENSG00000164855	28797		6			HGNC	p.S390delinsGS	TMP_ESP_7_1586663_1586662,COSM1449635	TMEM184A		insertion	GCC:0.4684					0,1	ENST00000297477	protein_coding			hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF20		-/G	GCC:0.4789	GCC		1484-1485/6276				C9JKG9_HUMAN,C9JDD9_HUMAN,C9J4I0_HUMAN			YES	TMEM184A,inframe_insertion,p.Pro389_Ser390insGly,ENST00000297477,NM_001097620.1;MAFK,downstream_gene_variant,,ENST00000343242,NM_002360.3;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,;MAFK,downstream_gene_variant,,ENST00000403150,;TMEM184A,downstream_gene_variant,,ENST00000474813,;TMEM184A,downstream_gene_variant,,ENST00000421923,;					0,1		MODERATE	1167-1168/1242		T184A_HUMAN			Transcript			.	ENSP00000297477		CCDS43537.1			1	
PIK3CD	0	LGGM	GRCh37	1	9781907	9781907	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	32	3	.	.	ENST00000377346.4:c.2044C>A	p.Leu682Met	p.L682M	ENST00000377346	NM_005026.3	682	Ctg/Atg	0	1	1	UPI000013E807	0	getma.org/pdb.php?prot=PK3CD_HUMAN&from=499&to=684&var=L682M	ENST00000377346		ENSG00000171608	8977		35	2.44		HGNC	p.L682M		PIK3CD		SNV			1				ENST00000377346	protein_coding	getma.org/?cm=var&var=hg19,1,9781907,C,A&fts=all		hmmpanther:PTHR10048:SF35,hmmpanther:PTHR10048,Pfam_domain:PF00613,Gene3D:3.30.1010.10,SMART_domains:SM00145,Superfamily_domains:SSF56112		L/M		A	medium	2239/5203		getma.org/?cm=msa&ty=f&p=PK3CD_HUMAN&rb=499&re=684&var=L682M	deleterious(0)	B7ZM44_HUMAN			YES	PIK3CD,missense_variant,p.Leu706Met,ENST00000536656,;PIK3CD,missense_variant,p.Leu682Met,ENST00000377346,NM_005026.3;PIK3CD,missense_variant,p.Leu706Met,ENST00000361110,;PIK3CD,3_prime_UTR_variant,,ENST00000543390,;PIK3CD,downstream_gene_variant,,ENST00000479223,;							MODERATE	2044/3135	L682M	PK3CD_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000366563		CCDS104.1			1	
EIF4ENIF1	0	LGGM	GRCh37	22	31840668	31840668	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	35	3	.	.	ENST00000397525.1:c.1997G>T	p.Arg666Leu	p.R666L	ENST00000397525	NM_001164501.1	666	cGa/cTa	0	1		UPI0000124F14	0	NA	ENST00000330125		ENSG00000184708	16687		38	2.045		HGNC	p.R223L		EIF4ENIF1		SNV							ENST00000418321	protein_coding	getma.org/?cm=var&var=hg19,22,31840668,C,A&fts=all		hmmpanther:PTHR12269,Pfam_domain:PF10477		R/L		A	medium	2072/3544		getma.org/?cm=msa&ty=f&p=4ET_HUMAN&rb=30&re=713&var=R666L	deleterious(0)	B1AKL6_HUMAN,B1AKL5_HUMAN				EIF4ENIF1,missense_variant,p.Arg666Leu,ENST00000397525,NM_001164501.1;EIF4ENIF1,missense_variant,p.Arg666Leu,ENST00000330125,NM_019843.3;EIF4ENIF1,missense_variant,p.Arg642Leu,ENST00000397523,;EIF4ENIF1,missense_variant,p.Arg492Leu,ENST00000344710,NM_001164502.1;EIF4ENIF1,missense_variant,p.Arg321Leu,ENST00000382180,;EIF4ENIF1,missense_variant,p.Arg223Leu,ENST00000418321,;EIF4ENIF1,upstream_gene_variant,,ENST00000441289,;EIF4ENIF1,3_prime_UTR_variant,,ENST00000445424,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000495101,;EIF4ENIF1,non_coding_transcript_exon_variant,,ENST00000487671,;DRG1,intron_variant,,ENST00000548143,;EIF4ENIF1,upstream_gene_variant,,ENST00000475437,;							MODERATE	1997/2958	R666L	4ET_HUMAN			Transcript		benign(0.258)	.	ENSP00000328103		CCDS13898.1			1	
OR2D2	0	LGGM	GRCh37	11	6912946	6912946	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	3	.	.	ENST00000299459.2:c.786C>A	p.Pro262=	p.P262=	ENST00000299459	NM_003700.1	262	ccC/ccA	0	1	1	UPI0000061F0B	0		ENST00000299459		ENSG00000166368	8244		42			HGNC	p.P262P		OR2D2		SNV							ENST00000299459	protein_coding			Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF156,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		P		T		885/1110							YES	OR2D2,synonymous_variant,p.=,ENST00000299459,NM_003700.1;							LOW	786/927		OR2D2_HUMAN			Transcript			.	ENSP00000299459		CCDS31416.1			1	
AFP	0	LGGM	GRCh37	4	74316381	74316381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	34	3	.	.	ENST00000395792.2:c.1339C>A	p.Leu447Met	p.L447M	ENST00000395792	NM_001134.1	447	Ctg/Atg	0	1	1	UPI00000012A9	0	getma.org/pdb.php?prot=FETA_HUMAN&from=412&to=592&var=L447M	ENST00000395792		ENSG00000081051	317		37	2.965		HGNC	p.L447M		AFP		SNV			1				ENST00000226359	protein_coding	getma.org/?cm=var&var=hg19,4,74316381,C,A&fts=all		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		L/M		A	medium	1439/2484		getma.org/?cm=msa&ty=f&p=FETA_HUMAN&rb=412&re=592&var=L447M	deleterious(0.02)				YES	AFP,missense_variant,p.Leu447Met,ENST00000395792,NM_001134.1;AFP,missense_variant,p.Leu447Met,ENST00000226359,;AFP,upstream_gene_variant,,ENST00000506820,;AFP,non_coding_transcript_exon_variant,,ENST00000508838,;AFP,upstream_gene_variant,,ENST00000514279,;							MODERATE	1339/1830	L447M	FETA_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379138		CCDS3556.1			1	
CYFIP2	0	LGGM	GRCh37	5	156755045	156755045	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	38	3	.	.	ENST00000521420.1:c.2066C>A	p.Ala689Asp	p.A689D	ENST00000521420		689	gCc/gAc	0	1	1	UPI0001D55E6B	0	getma.org/pdb.php?prot=CYFP2_HUMAN&from=384&to=1248&var=A740D	ENST00000521420		ENSG00000055163	13760		41	0.2		HGNC	p.A689D		CYFIP2		SNV							ENST00000521420	protein_coding	getma.org/?cm=var&var=hg19,5,156755045,C,A&fts=all		hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994		A/D		A	neutral	2157/6370		getma.org/?cm=msa&ty=f&p=CYFP2_HUMAN&rb=384&re=1248&var=A740D	tolerated(0.41)	E7EVJ5_HUMAN			YES	CYFIP2,missense_variant,p.Ala715Asp,ENST00000347377,NM_001037332.2;CYFIP2,missense_variant,p.Ala715Asp,ENST00000377576,NM_014376.2;CYFIP2,missense_variant,p.Ala740Asp,ENST00000318218,;CYFIP2,missense_variant,p.Ala689Asp,ENST00000521420,;CYFIP2,missense_variant,p.Ala640Asp,ENST00000541131,;CYFIP2,missense_variant,p.Ala414Asp,ENST00000435847,;CYFIP2,missense_variant,p.Ala519Asp,ENST00000522463,;CYFIP2,5_prime_UTR_variant,,ENST00000442283,NM_001037333.1;CYFIP2,downstream_gene_variant,,ENST00000520960,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000518555,;CYFIP2,non_coding_transcript_exon_variant,,ENST00000520424,;							MODERATE	2066/3684	A740D				Transcript		benign(0.045)	.	ENSP00000430904					1	
DOLK	0	LGGM	GRCh37	9	131709511	131709511	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	20	3	.	.	ENST00000372586.3:c.72G>T	p.Ala24=	p.A24=	ENST00000372586	NM_014908.3	24	gcG/gcT	0	1	1	UPI0000001C36	0		ENST00000372586		ENSG00000175283	23406		23			HGNC	p.A24A		DOLK		SNV			1				ENST00000372586	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13205,hmmpanther:PTHR13205:SF14		A		A		388/2090							YES	DOLK,synonymous_variant,p.=,ENST00000372586,NM_014908.3;RP11-101E3.5,intron_variant,,ENST00000482796,;NUP188,upstream_gene_variant,,ENST00000372577,NM_015354.2;NUP188,upstream_gene_variant,,ENST00000550219,;NUP188,upstream_gene_variant,,ENST00000491990,;NUP188,upstream_gene_variant,,ENST00000464729,;							LOW	72/1617		DOLK_HUMAN			Transcript			.	ENSP00000361667		CCDS6915.1			1	
TMEM50A	0	LGGM	GRCh37	1	25678125	25678125	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	43	3	.	.	ENST00000374358.4:c.215C>A	p.Ala72Glu	p.A72E	ENST00000374358	NM_014313.3	72	gCa/gAa	0	1	1	UPI000000D811	0	NA	ENST00000374358		ENSG00000183726	30590		46	2.81		HGNC	p.A72E		TMEM50A		SNV							ENST00000374358	protein_coding	getma.org/?cm=var&var=hg19,1,25678125,C,A&fts=all		Pfam_domain:PF05255,hmmpanther:PTHR13180,hmmpanther:PTHR13180:SF1,Transmembrane_helices:TMhelix		A/E		A	medium	768/2683		getma.org/?cm=msa&ty=f&p=TM50A_HUMAN&rb=1&re=157&var=A72E	deleterious(0)	Q7RU07_HUMAN			YES	TMEM50A,missense_variant,p.Ala72Glu,ENST00000374358,NM_014313.3;TMEM50A,non_coding_transcript_exon_variant,,ENST00000480937,;TMEM50A,non_coding_transcript_exon_variant,,ENST00000491936,;TMEM50A,non_coding_transcript_exon_variant,,ENST00000468704,;TMEM50A,non_coding_transcript_exon_variant,,ENST00000498135,;TMEM50A,non_coding_transcript_exon_variant,,ENST00000487234,;							MODERATE	215/474	A72E	TM50A_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000363478		CCDS264.1			1	
TRIO	0	LGGM	GRCh37	5	14487755	14487755	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	4	3	.	.	ENST00000344204.4:c.7018C>T	p.Arg2340Trp	p.R2340W	ENST00000344204	NM_007118.2	2340	Cgg/Tgg	0	1	1	UPI000034ECE6	0	NA	ENST00000344204		ENSG00000038382	12303		7	0		HGNC	p.R2281W		TRIO		SNV			1				ENST00000512070	protein_coding	getma.org/?cm=var&var=hg19,5,14487755,C,T&fts=all		hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF104,Low_complexity_(Seg):seg		R/W		T	neutral	7042/11100		getma.org/?cm=msa&ty=f&p=TRIO_HUMAN&rb=2300&re=2344&var=R2340W					YES	TRIO,missense_variant,p.Arg2340Trp,ENST00000344204,NM_007118.2;TRIO,missense_variant,p.Arg2340Trp,ENST00000537187,;TRIO,missense_variant,p.Arg2073Trp,ENST00000513206,;TRIO,upstream_gene_variant,,ENST00000344135,;TRIO,missense_variant,p.Arg2281Trp,ENST00000512070,;TRIO,non_coding_transcript_exon_variant,,ENST00000515144,;TRIO,non_coding_transcript_exon_variant,,ENST00000510281,;TRIO,upstream_gene_variant,,ENST00000503399,;							MODERATE	7018/9294	R2340W	TRIO_HUMAN			Transcript		benign(0.253)	.	ENSP00000339299		CCDS3883.1			1	
B4GALT3	0	LGGM	GRCh37	1	161143737	161143737	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	36	3	.	.	ENST00000319769.5:c.592C>A	p.Leu198Ile	p.L198I	ENST00000319769	NM_003779.3	198	Ctc/Atc	0	1	1	UPI0000070AD6	0	getma.org/pdb.php?prot=B4GT3_HUMAN&from=77&to=212&var=L198I	ENST00000319769		ENSG00000158850	926		39	2.885		HGNC	p.L198I		B4GALT3		SNV							ENST00000319769	protein_coding	getma.org/?cm=var&var=hg19,1,161143737,G,T&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF13733,Prints_domain:PR02050,hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF33,Superfamily_domains:SSF53448		L/I		T	medium	815/1911		getma.org/?cm=msa&ty=f&p=B4GT3_HUMAN&rb=77&re=212&var=L198I	deleterious(0.03)				YES	B4GALT3,missense_variant,p.Leu198Ile,ENST00000319769,NM_003779.3,NM_001199873.1;B4GALT3,missense_variant,p.Leu198Ile,ENST00000367998,NM_001199874.1;PPOX,intron_variant,,ENST00000432542,;PPOX,intron_variant,,ENST00000535223,;PPOX,downstream_gene_variant,,ENST00000367999,NM_001122764.1;PPOX,downstream_gene_variant,,ENST00000352210,NM_000309.3;PPOX,downstream_gene_variant,,ENST00000544598,;PPOX,downstream_gene_variant,,ENST00000537523,;PPOX,downstream_gene_variant,,ENST00000537829,;B4GALT3,non_coding_transcript_exon_variant,,ENST00000470882,;B4GALT3,non_coding_transcript_exon_variant,,ENST00000466504,;B4GALT3,non_coding_transcript_exon_variant,,ENST00000465740,;PPOX,intron_variant,,ENST00000495483,;PPOX,intron_variant,,ENST00000497522,;PPOX,downstream_gene_variant,,ENST00000462977,;PPOX,downstream_gene_variant,,ENST00000470607,;B4GALT3,downstream_gene_variant,,ENST00000496313,;PPOX,downstream_gene_variant,,ENST00000494216,;B4GALT3,downstream_gene_variant,,ENST00000467863,;B4GALT3,downstream_gene_variant,,ENST00000493164,;PPOX,downstream_gene_variant,,ENST00000466452,;B4GALT3,downstream_gene_variant,,ENST00000487004,;B4GALT3,downstream_gene_variant,,ENST00000482288,;B4GALT3,downstream_gene_variant,,ENST00000460415,;PPOX,downstream_gene_variant,,ENST00000460611,;PPOX,downstream_gene_variant,,ENST00000462866,;B4GALT3,upstream_gene_variant,,ENST00000486938,;PPOX,downstream_gene_variant,,ENST00000541818,;PPOX,downstream_gene_variant,,ENST00000539753,;							MODERATE	592/1182	L198I	B4GT3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000320965		CCDS1222.1			1	
WDFY3	0	LGGM	GRCh37	4	85707292	85707292	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	3	.	.	ENST00000295888.4:c.3902G>T	p.Cys1301Phe	p.C1301F	ENST00000295888	NM_014991.4	1301	tGt/tTt	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		42	1.5		HGNC	p.C1301F		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85707292,C,A&fts=all		hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		C/F		A	low	4310/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=1201&re=1400&var=C1301F	tolerated(0.71)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Cys1301Phe,ENST00000322366,;WDFY3,missense_variant,p.Cys1301Phe,ENST00000295888,NM_014991.4;							MODERATE	3902/10581	C1301F	WDFY3_HUMAN			Transcript		benign(0)	.	ENSP00000295888		CCDS3609.1			1	
PPP2R1B	0	LGGM	GRCh37	11	111624245	111624245	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	40	3	.	.	ENST00000311129.5:c.1086G>T	p.Met362Ile	p.M362I	ENST00000311129	NM_181699.2	362	atG/atT	0	1		UPI0000169868	0	getma.org/pdb.php?prot=2AAB_HUMAN&from=326&to=377&var=M362I	ENST00000527614		ENSG00000137713	9303		43	3.47		HGNC	p.M201I		PPP2R1B		SNV							ENST00000427203	protein_coding	getma.org/?cm=var&var=hg19,11,111624245,C,A&fts=all		Gene3D:1.25.10.10,PROSITE_profiles:PS50077,hmmpanther:PTHR10648,hmmpanther:PTHR10648:SF9,Superfamily_domains:SSF48371		M/I		A	medium	1152/5587		getma.org/?cm=msa&ty=f&p=2AAB_HUMAN&rb=326&re=377&var=M362I	deleterious(0.05)					PPP2R1B,missense_variant,p.Met362Ile,ENST00000527614,NM_001177562.1,NM_002716.4;PPP2R1B,missense_variant,p.Met201Ile,ENST00000427203,;PPP2R1B,missense_variant,p.Met362Ile,ENST00000311129,NM_181699.2;PPP2R1B,missense_variant,p.Met298Ile,ENST00000426998,NM_181700.1;PPP2R1B,missense_variant,p.Met235Ile,ENST00000393055,NM_001177563.1;PPP2R1B,missense_variant,p.Met63Ile,ENST00000531890,;PPP2R1B,intron_variant,,ENST00000341980,;PPP2R1B,3_prime_UTR_variant,,ENST00000534521,;							MODERATE	1086/1806	M362I	2AAB_HUMAN			Transcript		possibly_damaging(0.769)	.	ENSP00000437193		CCDS8349.1			1	
FOXO1	0	LGGM	GRCh37	13	41134749	41134749	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	24	3	.	.	ENST00000379561.5:c.879C>A	p.Ser293=	p.S293=	ENST00000379561	NM_002015.3	293	tcC/tcA	0	1	1	UPI000013DC20	0		ENST00000379561		ENSG00000150907	3819		27			HGNC	p.S293S		FOXO1		SNV			1				ENST00000379561	protein_coding			hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF159		S		T		1264/5735							YES	FOXO1,synonymous_variant,p.=,ENST00000379561,NM_002015.3;FOXO1,downstream_gene_variant,,ENST00000473775,;							LOW	879/1968		FOXO1_HUMAN			Transcript			.	ENSP00000368880		CCDS9371.1			1	
CADPS	0	LGGM	GRCh37	3	62578421	62578421	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	43	3	.	.	ENST00000383710.4:c.1328G>T	p.Trp443Leu	p.W443L	ENST00000383710	NM_003716.3	443	tGg/tTg	0	1	1	UPI00001C036A	0	NA	ENST00000383710		ENSG00000163618	1426		46	2.485		HGNC	p.W443L		CADPS		SNV							ENST00000283269	protein_coding	getma.org/?cm=var&var=hg19,3,62578421,C,A&fts=all		hmmpanther:PTHR12166:SF5,hmmpanther:PTHR12166		W/L		A	medium	1678/5471		getma.org/?cm=msa&ty=f&p=CAPS1_HUMAN&rb=400&re=481&var=W443L	deleterious(0)				YES	CADPS,missense_variant,p.Trp443Leu,ENST00000383710,NM_003716.3;CADPS,missense_variant,p.Trp443Leu,ENST00000357948,NM_183393.2;CADPS,missense_variant,p.Trp443Leu,ENST00000283269,NM_183394.2;							MODERATE	1328/4062	W443L	CAPS1_HUMAN			Transcript		benign(0.307)	.	ENSP00000373215		CCDS46858.1			1	
ITGB4	0	LGGM	GRCh37	17	73723556	73723556	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	8	3	.	.	ENST00000200181.3:c.234G>T	p.Val78=	p.V78=	ENST00000200181	NM_000213.3	78	gtG/gtT	0	1	1	UPI00001AE5C0	0		ENST00000200181		ENSG00000132470	6158		11			HGNC	p.V78V		ITGB4		SNV			1				ENST00000450894	protein_coding			hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Pfam_domain:PF00362,PIRSF_domain:PIRSF002513,SMART_domains:SM00187,Superfamily_domains:SSF103575,Prints_domain:PR01186		V		T		421/5919							YES	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,upstream_gene_variant,,ENST00000582629,;ITGB4,non_coding_transcript_exon_variant,,ENST00000584558,;ITGB4,upstream_gene_variant,,ENST00000584374,;ITGB4,non_coding_transcript_exon_variant,,ENST00000580542,;							LOW	234/5469		ITB4_HUMAN			Transcript			.	ENSP00000200181		CCDS11727.1			1	
COL5A2	0	LGGM	GRCh37	2	189926329	189926329	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	45	3	.	.	ENST00000374866.3:c.1990G>T	p.Glu664Ter	p.E664*	ENST00000374866	NM_000393.3	664	Gaa/Taa	0	1	1	UPI00006C511C	0	NA	ENST00000374866		ENSG00000204262	2210		48	0		HGNC	p.E664X		COL5A2		SNV			1				ENST00000374866	protein_coding	getma.org/?cm=var&var=hg19,2,189926329,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF481		E/*		A	NA	2265/6949		NA		D3DPH5_HUMAN			YES	COL5A2,stop_gained,p.Glu664Ter,ENST00000374866,NM_000393.3;COL5A2,non_coding_transcript_exon_variant,,ENST00000470524,;							HIGH	1990/4500	E664*	CO5A2_HUMAN			Transcript			.	ENSP00000364000		CCDS33350.1			1	
DISP2	0	LGGM	GRCh37	15	40660437	40660437	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	17	3	.	.	ENST00000267889.3:c.2124C>A	p.Cys708Ter	p.C708*	ENST00000267889	NM_033510.1	708	tgC/tgA	0	1	1	UPI0000160F9B	0	NA	ENST00000267889		ENSG00000140323	19712		20	0		HGNC	p.C708X		DISP2		SNV							ENST00000267889	protein_coding	getma.org/?cm=var&var=hg19,15,40660437,C,A&fts=all		hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58,Transmembrane_helices:TMhelix		C/*		A	NA	2211/5031		NA					YES	DISP2,stop_gained,p.Cys708Ter,ENST00000267889,NM_033510.1;DISP2,upstream_gene_variant,,ENST00000558623,;LINC00594,upstream_gene_variant,,ENST00000561261,;RP11-64K12.4,downstream_gene_variant,,ENST00000558421,;DISP2,downstream_gene_variant,,ENST00000559721,;							HIGH	2124/4206	C708*	DISP2_HUMAN			Transcript			.	ENSP00000267889		CCDS10056.1			1	
SUSD4	0	LGGM	GRCh37	1	223442013	223442013	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	47	3	.	.	ENST00000343846.3:c.366C>T	p.Cys122=	p.C122=	ENST00000343846		122	tgC/tgT	0	1	1	UPI0000205CB5	0		ENST00000343846		ENSG00000143502	25470		50			HGNC	p.C122C		SUSD4		SNV							ENST00000343846	protein_coding			PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF207,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		C		A		1000/3480				B7Z469_HUMAN			YES	SUSD4,synonymous_variant,p.=,ENST00000343846,;SUSD4,synonymous_variant,p.=,ENST00000366878,NM_017982.3;SUSD4,synonymous_variant,p.=,ENST00000484758,;SUSD4,synonymous_variant,p.=,ENST00000608996,;SUSD4,synonymous_variant,p.=,ENST00000494793,;SUSD4,synonymous_variant,p.=,ENST00000344029,NM_001037175.2;SUSD4,5_prime_UTR_variant,,ENST00000454695,;SUSD4,non_coding_transcript_exon_variant,,ENST00000478605,;SUSD4,non_coding_transcript_exon_variant,,ENST00000483818,;SUSD4,non_coding_transcript_exon_variant,,ENST00000497669,;							LOW	366/1473		SUSD4_HUMAN			Transcript			.	ENSP00000344219		CCDS41471.1			1	
HSPA12A	0	LGGM	GRCh37	10	118434646	118434646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	14	3	.	.	ENST00000369209.3:c.1674G>T	p.Lys558Asn	p.K558N	ENST00000369209	NM_025015.2	558	aaG/aaT	0	1	1	UPI00001B3DE3	0	NA	ENST00000369209		ENSG00000165868	19022		17	2.25		HGNC	p.K558N		HSPA12A		SNV							ENST00000369209	protein_coding	getma.org/?cm=var&var=hg19,10,118434646,C,A&fts=all		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF46		K/N		A	medium	1779/5722		getma.org/?cm=msa&ty=f&p=HS12A_HUMAN&rb=401&re=600&var=K558N	deleterious(0.01)				YES	HSPA12A,missense_variant,p.Lys558Asn,ENST00000369209,NM_025015.2;RP11-498B4.5,downstream_gene_variant,,ENST00000433600,;C10orf82,upstream_gene_variant,,ENST00000588224,;							MODERATE	1674/2028	K558N	HS12A_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000358211		CCDS41569.1			1	
ALDOB	0	LGGM	GRCh37	9	104187889	104187889	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	40	3	.	.	ENST00000374855.4:c.645G>T	p.Lys215Asn	p.K215N	ENST00000374855	NM_000035.3	215	aaG/aaT	0	1	1	UPI000016A4A9	0	getma.org/pdb.php?prot=ALDOB_HUMAN&from=15&to=364&var=K215N	ENST00000374855		ENSG00000136872	417		43	2.61		HGNC	p.K142N		ALDOB		SNV			1				ENST00000374853	protein_coding	getma.org/?cm=var&var=hg19,9,104187889,C,A&fts=all		Superfamily_domains:SSF51569,Gene3D:3.20.20.70,Pfam_domain:PF00274,hmmpanther:PTHR11627,hmmpanther:PTHR11627:SF2		K/N		A	medium	770/2451		getma.org/?cm=msa&ty=f&p=ALDOB_HUMAN&rb=15&re=364&var=K215N	deleterious(0)				YES	ALDOB,missense_variant,p.Lys215Asn,ENST00000374855,NM_000035.3;ALDOB,non_coding_transcript_exon_variant,,ENST00000468981,;							MODERATE	645/1095	K215N	ALDOB_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000363988		CCDS6756.1			1	
FREM1	0	LGGM	GRCh37	9	14816814	14816814	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	18	3	.	.	ENST00000422223.2:c.2602G>T	p.Asp868Tyr	p.D868Y	ENST00000422223	NM_144966.5	868	Gat/Tat	0	1		UPI000057A218	0	NA	ENST00000380880		ENSG00000164946	23399		21	3.32		HGNC	p.D868Y		FREM1		SNV			1				ENST00000380880	protein_coding	getma.org/?cm=var&var=hg19,9,14816814,C,A&fts=all		hmmpanther:PTHR11878:SF24,hmmpanther:PTHR11878		D/Y		A	medium	3386/7324		getma.org/?cm=msa&ty=f&p=FREM1_HUMAN&rb=801&re=1000&var=D868Y	deleterious(0)					FREM1,missense_variant,p.Asp869Tyr,ENST00000380881,;FREM1,missense_variant,p.Asp868Tyr,ENST00000422223,NM_144966.5;FREM1,missense_variant,p.Asp868Tyr,ENST00000380880,;FREM1,missense_variant,p.Asp868Tyr,ENST00000380875,;							MODERATE	2602/6540	D868Y	FREM1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000370262		CCDS47952.1			1	
PLEKHA6	0	LGGM	GRCh37	1	204218020	204218020	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	28	3	.	.	ENST00000272203.3:c.1753C>A	p.Leu585Met	p.L585M	ENST00000272203	NM_014935.4	585	Ctg/Atg	0	1	1	UPI000013D935	0	NA	ENST00000272203		ENSG00000143850	17053		31	1.87		HGNC	p.L605M		PLEKHA6		SNV							ENST00000414478	protein_coding	getma.org/?cm=var&var=hg19,1,204218020,G,T&fts=all		hmmpanther:PTHR12752,hmmpanther:PTHR12752:SF5		L/M		T	low	2070/7401		getma.org/?cm=msa&ty=f&p=PKHA6_HUMAN&rb=559&re=758&var=L585M	deleterious(0)				YES	PLEKHA6,missense_variant,p.Leu585Met,ENST00000272203,NM_014935.4;PLEKHA6,missense_variant,p.Leu605Met,ENST00000414478,;							MODERATE	1753/3147	L585M	PKHA6_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000272203		CCDS1444.1			1	
IGF2BP2	0	LGGM	GRCh37	3	185375119	185375119	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	3	.	.	ENST00000382199.2:c.1341G>T	p.Gly447=	p.G447=	ENST00000382199	NM_006548.4	447	ggG/ggT	0	1	1	UPI000013C5B6	0		ENST00000382199		ENSG00000073792	28867		42			HGNC	p.G404G		IGF2BP2		SNV							ENST00000346192	protein_coding			PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF93,hmmpanther:PTHR10288,Pfam_domain:PF00013,Gene3D:3.30.1370.10,SMART_domains:SM00322,Superfamily_domains:SSF54791		G		A		1437/3688							YES	IGF2BP2,synonymous_variant,p.=,ENST00000382199,NM_006548.4;IGF2BP2,synonymous_variant,p.=,ENST00000457616,;IGF2BP2,synonymous_variant,p.=,ENST00000421047,;IGF2BP2,synonymous_variant,p.=,ENST00000346192,NM_001007225.1;IGF2BP2,non_coding_transcript_exon_variant,,ENST00000494906,;							LOW	1341/1800		IF2B2_HUMAN			Transcript			.	ENSP00000371634		CCDS3273.2			1	
SLC3A2	0	LGGM	GRCh37	11	62650384	62650384	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	18	3	.	.	ENST00000377891.2:c.909C>A	p.Ile303=	p.I303=	ENST00000377891	NM_001012662.2	303	atC/atA	0	1		UPI000013E757	0		ENST00000377890		ENSG00000168003	11026		21			HGNC	p.I302I		SLC3A2		SNV							ENST00000377890	protein_coding			hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF12,Pfam_domain:PF00128,Gene3D:3.20.20.80,SMART_domains:SM00642,Superfamily_domains:SSF51445		I		A		1074/2161				F5H867_HUMAN,F5H056_HUMAN,F5GZI0_HUMAN,B4E2Z3_HUMAN				SLC3A2,synonymous_variant,p.=,ENST00000377892,;SLC3A2,synonymous_variant,p.=,ENST00000377891,NM_001012662.2;SLC3A2,synonymous_variant,p.=,ENST00000377890,NM_002394.5;SLC3A2,synonymous_variant,p.=,ENST00000535296,;SLC3A2,synonymous_variant,p.=,ENST00000377889,NM_001012664.2;SLC3A2,synonymous_variant,p.=,ENST00000338663,NM_001013251.2;SLC3A2,5_prime_UTR_variant,,ENST00000536981,;SLC3A2,5_prime_UTR_variant,,ENST00000539891,;SLC3A2,downstream_gene_variant,,ENST00000538084,;SLC3A2,downstream_gene_variant,,ENST00000544377,;SLC3A2,downstream_gene_variant,,ENST00000539458,;SLC3A2,upstream_gene_variant,,ENST00000539507,;SLC3A2,downstream_gene_variant,,ENST00000541372,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000538682,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000457660,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000537839,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000537508,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000546253,;SLC3A2,non_coding_transcript_exon_variant,,ENST00000546312,;SLC3A2,upstream_gene_variant,,ENST00000542922,;SLC3A2,upstream_gene_variant,,ENST00000535768,;SLC3A2,upstream_gene_variant,,ENST00000541425,;SLC3A2,upstream_gene_variant,,ENST00000542793,;SLC3A2,downstream_gene_variant,,ENST00000541649,;							LOW	906/1893		4F2_HUMAN			Transcript			.	ENSP00000367122		CCDS8039.2			1	
CELSR3	0	LGGM	GRCh37	3	48691126	48691126	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	3	.	.	ENST00000164024.4:c.5374G>A	p.Ala1792Thr	p.A1792T	ENST00000164024	NM_001407.2	1792	Gca/Aca	0	1	1	UPI00001AE5A6	0	NA	ENST00000164024		ENSG00000008300	3230		42	1.155		HGNC	p.A1792T		CELSR3		SNV							ENST00000544264	protein_coding	getma.org/?cm=var&var=hg19,3,48691126,C,T&fts=all		Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF38,SMART_domains:SM00282,Superfamily_domains:SSF49899		A/T		T	low	5655/11956		getma.org/?cm=msa&ty=f&p=CELR3_HUMAN&rb=1764&re=1944&var=A1792T	tolerated(0.31)	B4DSQ9_HUMAN			YES	CELSR3,missense_variant,p.Ala1792Thr,ENST00000544264,;CELSR3,missense_variant,p.Ala1792Thr,ENST00000164024,NM_001407.2;							MODERATE	5374/9939	A1792T	CELR3_HUMAN			Transcript		benign(0.119)	.	ENSP00000164024		CCDS2775.1			1	
SH3TC2	0	LGGM	GRCh37	5	148392236	148392236	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	16	3	.	.	ENST00000515425.1:c.3115G>T	p.Glu1039Ter	p.E1039*	ENST00000515425	NM_024577.3	1039	Gag/Tag	0	1	1	UPI00001DFBEE	0	NA	ENST00000515425		ENSG00000169247	29427		19	0		HGNC	p.E586X		SH3TC2		SNV			1				ENST00000538184	protein_coding	getma.org/?cm=var&var=hg19,5,148392236,C,A&fts=all		Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2		E/*		A	NA	3217/4059		NA		B3KXB9_HUMAN			YES	SH3TC2,stop_gained,p.Glu586Ter,ENST00000538184,;SH3TC2,stop_gained,p.Glu1039Ter,ENST00000515425,NM_024577.3;SH3TC2,stop_gained,p.Glu1032Ter,ENST00000512049,;SH3TC2,upstream_gene_variant,,ENST00000502274,;SH3TC2,upstream_gene_variant,,ENST00000515229,;SH3TC2,stop_gained,p.Glu1039Ter,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;							HIGH	3115/3867	E1039*	S3TC2_HUMAN			Transcript			.	ENSP00000423660		CCDS4293.1			1	
ZBTB24	0	LGGM	GRCh37	6	109787315	109787315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	4	.	.	ENST00000230122.3:c.1833G>T	p.Gln611His	p.Q611H	ENST00000230122	NM_014797.2	611	caG/caT	0	1	1	UPI000013C924	0	NA	ENST00000230122		ENSG00000112365	21143		43	0.695		HGNC	p.Q611H		ZBTB24		SNV			1				ENST00000230122	protein_coding	getma.org/?cm=var&var=hg19,6,109787315,C,A&fts=all				Q/H		A	neutral	2001/5519		getma.org/?cm=msa&ty=f&p=ZBT24_HUMAN&rb=563&re=661&var=Q611H	tolerated(0.24)				YES	ZBTB24,missense_variant,p.Gln611His,ENST00000230122,NM_014797.2,NM_001164313.1;MICAL1,upstream_gene_variant,,ENST00000368952,NM_001286613.1;							MODERATE	1833/2094	Q611H	ZBT24_HUMAN			Transcript		benign(0.005)	.	ENSP00000230122		CCDS34509.1			1	
ZNF451	0	LGGM	GRCh37	6	57018783	57018783	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	58	4	.	.	ENST00000370706.4:c.3008C>A	p.Pro1003His	p.P1003H	ENST00000370706	NM_001031623.2	1003	cCt/cAt	0	1	1	UPI000004A571	0	NA	ENST00000370706		ENSG00000112200	21091		62	2.005		HGNC	p.P1003H		ZNF451		SNV							ENST00000491832	protein_coding	getma.org/?cm=var&var=hg19,6,57018783,C,A&fts=all				P/H		A	medium	3252/5268		getma.org/?cm=msa&ty=f&p=ZN451_HUMAN&rb=977&re=1061&var=P1003H	deleterious_low_confidence(0)	Q96JY2_HUMAN,D6RAV4_HUMAN			YES	ZNF451,missense_variant,p.Pro1003His,ENST00000370706,NM_001031623.2;ZNF451,missense_variant,p.Pro955His,ENST00000357489,NM_015555.2;ZNF451,missense_variant,p.Pro1003His,ENST00000491832,;RP11-203B9.4,intron_variant,,ENST00000416069,;RP11-203B9.4,intron_variant,,ENST00000586432,;RP11-203B9.4,intron_variant,,ENST00000592038,;RP11-203B9.4,intron_variant,,ENST00000588811,;RP11-203B9.4,intron_variant,,ENST00000589549,;RP11-203B9.4,intron_variant,,ENST00000589263,;RP11-203B9.4,intron_variant,,ENST00000586053,;RP11-203B9.4,intron_variant,,ENST00000586668,;RP11-203B9.4,intron_variant,,ENST00000591553,;RP11-203B9.4,intron_variant,,ENST00000587815,;RP11-203B9.4,intron_variant,,ENST00000585792,;RP11-203B9.4,intron_variant,,ENST00000586466,;RP11-203B9.4,intron_variant,,ENST00000592500,;ZNF451,non_coding_transcript_exon_variant,,ENST00000508548,;ZNF451,intron_variant,,ENST00000504603,;ZNF451,downstream_gene_variant,,ENST00000444273,;							MODERATE	3008/3186	P1003H	ZN451_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359740		CCDS43477.1			1	
KIAA0195	0	LGGM	GRCh37	17	73486376	73486376	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	59	4	.	.	ENST00000314256.7:c.1016C>A	p.Ala339Asp	p.A339D	ENST00000314256	NM_014738.4	339	gCc/gAc	0	1	1	UPI0000139439	0	NA	ENST00000314256		ENSG00000177728	28983		63	1.5		HGNC	p.A349D		KIAA0195		SNV							ENST00000375248	protein_coding	getma.org/?cm=var&var=hg19,17,73486376,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR13219:SF6,hmmpanther:PTHR13219		A/D		A	low	1410/5213		getma.org/?cm=msa&ty=f&p=K0195_HUMAN&rb=335&re=534&var=A339D	deleterious(0.01)	J3QS17_HUMAN,J3QRT3_HUMAN,J3QLM7_HUMAN,J3KT63_HUMAN,J3KRU7_HUMAN			YES	KIAA0195,missense_variant,p.Ala339Asp,ENST00000314256,NM_014738.4;KIAA0195,missense_variant,p.Ala349Asp,ENST00000375248,;KIAA0195,5_prime_UTR_variant,,ENST00000581252,;KIAA0195,intron_variant,,ENST00000579208,;KIAA0195,upstream_gene_variant,,ENST00000578853,;KIAA0195,upstream_gene_variant,,ENST00000580918,;KIAA0195,downstream_gene_variant,,ENST00000582186,;KIAA0195,downstream_gene_variant,,ENST00000582455,;KIAA0195,downstream_gene_variant,,ENST00000577380,;KIAA0195,downstream_gene_variant,,ENST00000581519,;KIAA0195,downstream_gene_variant,,ENST00000583795,;KIAA0195,downstream_gene_variant,,ENST00000580416,;KIAA0195,3_prime_UTR_variant,,ENST00000580441,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000585105,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000581085,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000579241,;KIAA0195,non_coding_transcript_exon_variant,,ENST00000580849,;KIAA0195,upstream_gene_variant,,ENST00000581867,;KIAA0195,upstream_gene_variant,,ENST00000578624,;KIAA0195,upstream_gene_variant,,ENST00000581723,;KIAA0195,downstream_gene_variant,,ENST00000585277,;KIAA0195,upstream_gene_variant,,ENST00000583071,;KIAA0195,upstream_gene_variant,,ENST00000582843,;KIAA0195,upstream_gene_variant,,ENST00000583296,;KIAA0195,downstream_gene_variant,,ENST00000579707,;KIAA0195,downstream_gene_variant,,ENST00000584383,;							MODERATE	1016/4071	A339D	K0195_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000313885		CCDS32732.1			1	
ZNF599	0	LGGM	GRCh37	19	35250233	35250233	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	87	4	.	.	ENST00000329285.8:c.1473C>A	p.Ser491Arg	p.S491R	ENST00000329285	NM_001007248.2	491	agC/agA	0	1	1	UPI0000071186	0	getma.org/pdb.php?prot=ZN599_HUMAN&from=491&to=492&var=S491R	ENST00000329285		ENSG00000153896	26408		91	1.065		HGNC	p.S491R		ZNF599		SNV							ENST00000329285	protein_coding	getma.org/?cm=var&var=hg19,19,35250233,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF20,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/R		T	low	1847/3099		getma.org/?cm=msa&ty=f&p=ZN599_HUMAN&rb=461&re=522&var=S491R	tolerated(1)				YES	ZNF599,missense_variant,p.Ser491Arg,ENST00000329285,NM_001007248.2;ZNF599,downstream_gene_variant,,ENST00000587354,;							MODERATE	1473/1767	S491R	ZN599_HUMAN			Transcript		benign(0.026)	.	ENSP00000333802		CCDS32991.1			1	
KCNK5	0	LGGM	GRCh37	6	39159269	39159269	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	67	4	.	.	ENST00000359534.3:c.897G>T	p.Glu299Asp	p.E299D	ENST00000359534	NM_003740.3	299	gaG/gaT	0	1	1	UPI000003AFB5	0	NA	ENST00000359534		ENSG00000164626	6280		71	1.1		HGNC	p.E299D		KCNK5		SNV							ENST00000359534	protein_coding	getma.org/?cm=var&var=hg19,6,39159269,C,A&fts=all		hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22		E/D		A	low	1236/3756		getma.org/?cm=msa&ty=f&p=KCNK5_HUMAN&rb=252&re=451&var=E299D	deleterious(0.05)				YES	KCNK5,missense_variant,p.Glu299Asp,ENST00000359534,NM_003740.3;							MODERATE	897/1500	E299D	KCNK5_HUMAN			Transcript		possibly_damaging(0.638)	.	ENSP00000352527		CCDS4841.1			1	
ACO2	0	LGGM	GRCh37	22	41923299	41923299	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	6	4	.	.	ENST00000216254.4:c.1961G>C	p.Gly654Ala	p.G654A	ENST00000216254	NM_001098.2	654	gGc/gCc	0	1	1	UPI000003CA3B	0	getma.org/pdb.php?prot=ACON_HUMAN&from=582&to=712&var=G654A	ENST00000216254		ENSG00000100412	118		10	4.24		HGNC	p.G679A		ACO2		SNV			1				ENST00000396512	protein_coding	getma.org/?cm=var&var=hg19,22,41923299,G,C&fts=all		hmmpanther:PTHR11670:SF30,hmmpanther:PTHR11670,TIGRFAM_domain:TIGR01340,Gene3D:3.20.19.10,Pfam_domain:PF00694,Superfamily_domains:SSF52016		G/A		C	high	1983/2741		getma.org/?cm=msa&ty=f&p=ACON_HUMAN&rb=582&re=712&var=G654A	deleterious_low_confidence(0.01)	B4DZ08_HUMAN,B4DEC3_HUMAN			YES	ACO2,missense_variant,p.Gly679Ala,ENST00000396512,;ACO2,missense_variant,p.Gly654Ala,ENST00000216254,NM_001098.2;POLR3H,3_prime_UTR_variant,,ENST00000355209,NM_001018050.2;POLR3H,3_prime_UTR_variant,,ENST00000396504,NM_138338.3,NM_001282885.1,NM_001282884.1;POLR3H,downstream_gene_variant,,ENST00000337566,NM_001018052.2;POLR3H,downstream_gene_variant,,ENST00000407461,;POLR3H,downstream_gene_variant,,ENST00000432789,;POLR3H,downstream_gene_variant,,ENST00000431534,;POLR3H,downstream_gene_variant,,ENST00000442616,;							MODERATE	1961/2343	G654A	ACON_HUMAN			Transcript		benign(0.281)	.	ENSP00000216254		CCDS14017.1			1	
SYNJ2	0	LGGM	GRCh37	6	158492779	158492779	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	26	4	.	.	ENST00000355585.4:c.2086C>A	p.Arg696=	p.R696=	ENST00000355585	NM_001178088.1	696	Cgg/Agg	0	1	1	UPI000006E2F8	0		ENST00000355585		ENSG00000078269	11504		30			HGNC	p.R696R		SYNJ2		SNV							ENST00000367121	protein_coding			Gene3D:3.60.10.10,Pfam_domain:PF03372,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98,SMART_domains:SM00128,Superfamily_domains:SSF56219		R		A		2161/7378				B4DLC4_HUMAN			YES	SYNJ2,synonymous_variant,p.=,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,synonymous_variant,p.=,ENST00000367122,;SYNJ2,synonymous_variant,p.=,ENST00000367121,;SYNJ2,downstream_gene_variant,,ENST00000449859,;							LOW	2086/4491		SYNJ2_HUMAN			Transcript			.	ENSP00000347792		CCDS5254.1			1	
SLC4A1	0	LGGM	GRCh37	17	42336564	42336577	+	frameshift_variant	Frame_Shift_Del	DEL	AAGCTGGGTGTAAT	AAGCTGGGTGTAAT	-	novel	by Submitter	H110379	H110379N.bam	AAGCTGGGTGTAAT	AAGCTGGGTGTAAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	9	4	.	.	ENST00000262418.6:c.830_843del	p.Asp277GlyfsTer89	p.D277Gfs*89	ENST00000262418	NM_000342.3	277	gATTACACCCAGCTT/g	0	1	1	UPI00000375B8	0		ENST00000262418		ENSG00000004939	11027		13			HGNC	p.277_281del		SLC4A1		deletion			1				ENST00000262418	protein_coding			Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Superfamily_domains:SSF55804,TIGRFAM_domain:TIGR00834		DYTQL/X		-		986-999/4965				Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN			YES	SLC4A1,frameshift_variant,p.Asp277GlyfsTer89,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,;							HIGH	830-843/2736		B3AT_HUMAN			Transcript			.	ENSP00000262418		CCDS11481.1			1	
TACC1	0	LGGM	GRCh37	8	38693683	38693683	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	33	4	.	.	ENST00000317827.4:c.1717C>A	p.Leu573Met	p.L573M	ENST00000317827	NM_006283.2	573	Ctg/Atg	0	1	1	UPI000013DACE	0	NA	ENST00000317827		ENSG00000147526	11522		37	1.65		HGNC	p.L349M		TACC1		SNV			1				ENST00000520973	protein_coding	getma.org/?cm=var&var=hg19,8,38693683,C,A&fts=all		hmmpanther:PTHR13924		L/M		A	low	2096/7802		getma.org/?cm=msa&ty=f&p=TACC1_HUMAN&rb=401&re=596&var=L573M	tolerated(0.05)	E5RJU4_HUMAN,E5RJG6_HUMAN,E5RIP3_HUMAN,E5RI10_HUMAN			YES	TACC1,missense_variant,p.Leu585Met,ENST00000379931,;TACC1,missense_variant,p.Leu573Met,ENST00000317827,NM_006283.2;TACC1,missense_variant,p.Leu163Met,ENST00000276520,NM_001122824.1;TACC1,missense_variant,p.Leu147Met,ENST00000330691,;TACC1,missense_variant,p.Leu135Met,ENST00000348567,;TACC1,missense_variant,p.Leu377Met,ENST00000519416,;TACC1,missense_variant,p.Leu378Met,ENST00000520615,NM_001146216.2;TACC1,missense_variant,p.Leu223Met,ENST00000518809,;TACC1,missense_variant,p.Leu499Met,ENST00000518415,;TACC1,missense_variant,p.Leu560Met,ENST00000443286,;TACC1,missense_variant,p.Leu349Met,ENST00000520973,;TACC1,missense_variant,p.Leu508Met,ENST00000520340,;TACC1,missense_variant,p.Leu331Met,ENST00000521866,;TACC1,missense_variant,p.Leu516Met,ENST00000522904,;TACC1,missense_variant,p.Leu11Met,ENST00000520611,;TACC1,downstream_gene_variant,,ENST00000521642,;TACC1,downstream_gene_variant,,ENST00000521050,;TACC1,non_coding_transcript_exon_variant,,ENST00000522752,;TACC1,non_coding_transcript_exon_variant,,ENST00000523239,;TACC1,upstream_gene_variant,,ENST00000519093,;TACC1,upstream_gene_variant,,ENST00000521568,;							MODERATE	1717/2418	L573M	TACC1_HUMAN			Transcript		possibly_damaging(0.765)	.	ENSP00000321703		CCDS6109.1			1	
KCND3	0	LGGM	GRCh37	1	112525231	112525231	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	16	5	.	.	ENST00000315987.2:c.118G>A	p.Glu40Lys	p.E40K	ENST00000315987	NM_004980.4	40	Gag/Aag	0	1	1	UPI000003050A	0	getma.org/pdb.php?prot=KCND3_HUMAN&from=32&to=41&var=E40K	ENST00000315987		ENSG00000171385	6239		21	1.44		HGNC	p.E40K		KCND3		SNV			1				ENST00000315987	protein_coding	getma.org/?cm=var&var=hg19,1,112525231,C,T&fts=all		Gene3D:3.30.710.10,Prints_domain:PR01518,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF17,SMART_domains:SM00225,Superfamily_domains:SSF54695		E/K		T	low	598/2716		getma.org/?cm=msa&ty=f&p=KCND3_HUMAN&rb=2&re=71&var=E40K	tolerated(0.28)				YES	KCND3,missense_variant,p.Glu40Lys,ENST00000369697,;KCND3,missense_variant,p.Glu40Lys,ENST00000315987,NM_004980.4;KCND3,missense_variant,p.Glu40Lys,ENST00000302127,NM_172198.2;							MODERATE	118/1968	E40K	KCND3_HUMAN			Transcript		benign(0)	.	ENSP00000319591		CCDS843.1			1	
ZNF181	0	LGGM	GRCh37	19	35232275	35232275	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	66	5	.	.	ENST00000492450.1:c.989T>C	p.Phe330Ser	p.F330S	ENST00000492450		330	tTt/tCt	0	1	1	UPI000020207A	0	getma.org/pdb.php?prot=ZN181_HUMAN&from=307&to=332&var=F330S	ENST00000492450		ENSG00000197841	12971		71	3.08		HGNC	p.F374S	rs759838638,COSM1129899	ZNF181		SNV						0,1	ENST00000392232	protein_coding	getma.org/?cm=var&var=hg19,19,35232275,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF110,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,SMART_domains:SM00614,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		F/S		C	medium	1078/1894	4.50E-05	getma.org/?cm=msa&ty=f&p=ZN181_HUMAN&rb=287&re=352&var=F330S	deleterious(0)	B4DM69_HUMAN			YES	ZNF181,missense_variant,p.Phe374Ser,ENST00000392232,;ZNF181,missense_variant,p.Phe329Ser,ENST00000459757,NM_001029997.3,NM_001145665.1;ZNF181,missense_variant,p.Phe330Ser,ENST00000492450,;ZNF181,downstream_gene_variant,,ENST00000595708,;ZNF181,downstream_gene_variant,,ENST00000599244,;ZNF181,downstream_gene_variant,,ENST00000593781,;ZNF181,non_coding_transcript_exon_variant,,ENST00000448715,;	0.000231				0,1		MODERATE	989/1716	F330S	ZN181_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000420727	4.12E-05	CCDS32990.2			1	
ITGB4	0	LGGM	GRCh37	17	73753053	73753053	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	17	5	.	.	ENST00000200181.3:c.5083G>A	p.Asp1695Asn	p.D1695N	ENST00000200181	NM_000213.3	1695	Gac/Aac	0	1	1	UPI00001AE5C0	0	getma.org/pdb.php?prot=ITB4_HUMAN&from=1642&to=1728&var=D1695N	ENST00000200181		ENSG00000132470	6158		22	0.18		HGNC	p.D1625N		ITGB4		SNV			1				ENST00000450894	protein_coding	getma.org/?cm=var&var=hg19,17,73753053,G,A&fts=all		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF002513,SMART_domains:SM00060,Superfamily_domains:SSF49265		D/N		A	neutral	5270/5919		getma.org/?cm=msa&ty=f&p=ITB4_HUMAN&rb=1642&re=1728&var=D1695N	tolerated(0.14)				YES	ITGB4,missense_variant,p.Asp1695Asn,ENST00000200181,NM_000213.3;ITGB4,missense_variant,p.Asp1678Asn,ENST00000339591,;ITGB4,missense_variant,p.Asp1678Asn,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Asp1625Asn,ENST00000450894,NM_001005731.1;ITGB4,missense_variant,p.Asp1625Asn,ENST00000579662,;ITGB4,missense_variant,p.Asp192Asn,ENST00000584939,;GALK1,intron_variant,,ENST00000225614,;ITGB4,intron_variant,,ENST00000582629,;GALK1,downstream_gene_variant,,ENST00000588479,;GALK1,downstream_gene_variant,,ENST00000437911,NM_000154.1;GALK1,downstream_gene_variant,,ENST00000592997,;ITGB4,downstream_gene_variant,,ENST00000583327,;ITGB4,upstream_gene_variant,,ENST00000578318,;GALK1,intron_variant,,ENST00000589643,;GALK1,downstream_gene_variant,,ENST00000592494,;GALK1,downstream_gene_variant,,ENST00000587707,;GALK1,downstream_gene_variant,,ENST00000586733,;ITGB4,downstream_gene_variant,,ENST00000579211,;							MODERATE	5083/5469	D1695N	ITB4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000200181		CCDS11727.1			1	
ABHD4	0	LGGM	GRCh37	14	23075370	23075370	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	10	6	.	.	ENST00000428304.2:c.683A>G	p.Lys228Arg	p.K228R	ENST00000428304	NM_022060.2	228	aAg/aGg	0	1	1	UPI00000493BB	0	getma.org/pdb.php?prot=ABHD4_HUMAN&from=71&to=333&var=K228R	ENST00000428304		ENSG00000100439	20154		16	0.415		HGNC	p.K228R	COSM954515	ABHD4		SNV						1	ENST00000428304	protein_coding	getma.org/?cm=var&var=hg19,14,23075370,A,G&fts=all		hmmpanther:PTHR10992:SF737,hmmpanther:PTHR10992,Gene3D:3.40.50.1820,Pfam_domain:PF12697,Superfamily_domains:SSF53474		K/R		G	neutral	753/2510		getma.org/?cm=msa&ty=f&p=ABHD4_HUMAN&rb=71&re=333&var=K228R	tolerated(0.09)	F5H6T0_HUMAN,B4DW04_HUMAN			YES	ABHD4,missense_variant,p.Lys228Arg,ENST00000428304,NM_022060.2;ABHD4,missense_variant,p.Lys162Arg,ENST00000216327,;ABHD4,downstream_gene_variant,,ENST00000542041,;ABHD4,downstream_gene_variant,,ENST00000545034,;ABHD4,non_coding_transcript_exon_variant,,ENST00000544562,;ABHD4,synonymous_variant,p.=,ENST00000418446,;ABHD4,3_prime_UTR_variant,,ENST00000541962,;ABHD4,downstream_gene_variant,,ENST00000539344,;ABHD4,downstream_gene_variant,,ENST00000537243,;					1		MODERATE	683/1029	K228R	ABHD4_HUMAN			Transcript		benign(0.123)	.	ENSP00000414558		CCDS9572.1			1	
SLC5A8	0	LGGM	GRCh37	12	101603581	101603581	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	8	6	.	.	ENST00000536262.2:c.46G>T	p.Val16Leu	p.V16L	ENST00000536262	NM_145913.3	16	Gtg/Ttg	0	1	1	UPI000004DAF6	0	NA	ENST00000536262		ENSG00000256870	19119		14	0.635		HGNC	p.V16L		SLC5A8		SNV							ENST00000536262	protein_coding	getma.org/?cm=var&var=hg19,12,101603581,C,A&fts=all		PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,Transmembrane_helices:TMhelix		V/L		A	neutral	605/4178		getma.org/?cm=msa&ty=f&p=SC5A8_HUMAN&rb=1&re=44&var=V16L	tolerated(0.24)				YES	SLC5A8,missense_variant,p.Val16Leu,ENST00000536262,NM_145913.3;							MODERATE	46/1833	V16L	SC5A8_HUMAN			Transcript		benign(0.012)	.	ENSP00000445340		CCDS9080.1			1	
STAC	0	LGGM	GRCh37	3	36570215	36570215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	12	6	.	.	ENST00000273183.3:c.948G>T	p.Glu316Asp	p.E316D	ENST00000273183	NM_003149.1	316	gaG/gaT	0	1	1	UPI0000136081	0	getma.org/pdb.php?prot=STAC_HUMAN&from=291&to=336&var=E316D	ENST00000273183		ENSG00000144681	11353		18	-0.325		HGNC	p.E244D		STAC		SNV							ENST00000434649	protein_coding	getma.org/?cm=var&var=hg19,3,36570215,G,T&fts=all		Prints_domain:PR01887,Prints_domain:PR00452,Superfamily_domains:SSF50044,SMART_domains:SM00326,Pfam_domain:PF00018,Gene3D:2.30.30.40,hmmpanther:PTHR15135:SF3,hmmpanther:PTHR15135,PROSITE_profiles:PS50002		E/D		T	neutral	1248/3227		getma.org/?cm=msa&ty=f&p=STAC_HUMAN&rb=291&re=336&var=E316D	tolerated(1)	B4DZ13_HUMAN			YES	STAC,missense_variant,p.Glu316Asp,ENST00000273183,NM_003149.1;STAC,missense_variant,p.Glu255Asp,ENST00000457375,;STAC,missense_variant,p.Glu244Asp,ENST00000434649,;STAC,non_coding_transcript_exon_variant,,ENST00000465064,;							MODERATE	948/1209	E316D	STAC_HUMAN			Transcript		benign(0.083)	.	ENSP00000273183		CCDS2662.1			1	
MUC12	0	LGGM	GRCh37	7	100643228	100643228	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	96	6	.	.	ENST00000536621.1:c.9384C>A	p.Gly3128=	p.G3128=	ENST00000536621	NM_001164462.1	3128	ggC/ggA	0	1		UPI0001722DB1	0		ENST00000379442		ENSG00000205277	7510		102			HGNC	p.G3128G		MUC12		SNV							ENST00000536621	protein_coding			hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9,Low_complexity_(Seg):seg		G		A		9813/16737								MUC12,synonymous_variant,p.=,ENST00000379442,;MUC12,synonymous_variant,p.=,ENST00000536621,NM_001164462.1;							LOW	9813/16437		MUC12_HUMAN			Transcript			.	ENSP00000368755					1	
TNIP1	0	LGGM	GRCh37	5	150444639	150444639	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	9	6	.	.	ENST00000389378.2:c.18G>A	p.Pro6=	p.P6=	ENST00000389378	NM_001252385.1	6	ccG/ccA	0	1		UPI000000DCDC	0		ENST00000315050		ENSG00000145901	16903		15			HGNC	p.P6P	rs765807266	TNIP1	0.000122	SNV							ENST00000518977	protein_coding			hmmpanther:PTHR31882,hmmpanther:PTHR31882:SF3		P		T		128/2785	4.52E-05			E7EWG2_HUMAN,E7EW68_HUMAN,E7EW15_HUMAN,B7Z5B0_HUMAN,A4F1X2_HUMAN,A4F1W8_HUMAN				TNIP1,synonymous_variant,p.=,ENST00000389378,NM_001252385.1,NM_001258454.1,NM_006058.4,NM_001252393.1;TNIP1,synonymous_variant,p.=,ENST00000315050,NM_001252391.1;TNIP1,synonymous_variant,p.=,ENST00000523338,NM_001252392.1;TNIP1,synonymous_variant,p.=,ENST00000521591,;TNIP1,synonymous_variant,p.=,ENST00000522226,NM_001252390.1;TNIP1,synonymous_variant,p.=,ENST00000518977,;TNIP1,synonymous_variant,p.=,ENST00000523200,NM_001258455.1;TNIP1,synonymous_variant,p.=,ENST00000524280,NM_001258456.1;TNIP1,synonymous_variant,p.=,ENST00000520695,;TNIP1,synonymous_variant,p.=,ENST00000521001,;TNIP1,intron_variant,,ENST00000520931,NM_001252386.1;TNIP1,intron_variant,,ENST00000522100,;TNIP1,upstream_gene_variant,,ENST00000519339,;							LOW	18/1911		TNIP1_HUMAN			Transcript			.	ENSP00000317891	4.94E-05	CCDS34280.1			1	
UNC5CL	0	LGGM	GRCh37	6	41001686	41001686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	17	6	.	.	ENST00000244565.3:c.620G>T	p.Arg207Met	p.R207M	ENST00000244565	NM_173561.2	207	aGg/aTg	0	1	1	UPI00001609DB	0	getma.org/pdb.php?prot=UN5CL_HUMAN&from=100&to=207&var=R207M	ENST00000244565		ENSG00000124602	21203		23	1.245		HGNC	p.R207M		UNC5CL		SNV							ENST00000244565	protein_coding	getma.org/?cm=var&var=hg19,6,41001686,C,A&fts=all		PROSITE_profiles:PS51145,hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF39		R/M		A	low	709/2986		getma.org/?cm=msa&ty=f&p=UN5CL_HUMAN&rb=100&re=207&var=R207M	deleterious(0.03)	H8YHX0_HUMAN			YES	UNC5CL,missense_variant,p.Arg207Met,ENST00000244565,NM_173561.2;UNC5CL,missense_variant,p.Arg207Met,ENST00000373164,;UNC5CL,upstream_gene_variant,,ENST00000470102,;OARD1,3_prime_UTR_variant,,ENST00000482853,;							MODERATE	620/1557	R207M	UN5CL_HUMAN			Transcript		possibly_damaging(0.617)	.	ENSP00000244565		CCDS4847.1			1	
NOTCH1	0	LGGM	GRCh37	9	139407949	139407949	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	13	7	.	.	ENST00000277541.6:c.2248T>A	p.Cys750Ser	p.C750S	ENST00000277541	NM_017617.3	750	Tgt/Agt	0	1	1	UPI0000210F68	0	getma.org/pdb.php?prot=NOTC1_HUMAN&from=716&to=751&var=C750S	ENST00000277541		ENSG00000148400	7881		20	4.09		HGNC	p.C750S		NOTCH1		SNV			1				ENST00000277541	protein_coding	getma.org/?cm=var&var=hg19,9,139407949,A,T&fts=all		Gene3D:2gy5A03,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF37,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		C/S		T	high	2324/9371		getma.org/?cm=msa&ty=f&p=NOTC1_HUMAN&rb=716&re=751&var=C750S	deleterious(0)	H9CXX2_HUMAN			YES	NOTCH1,missense_variant,p.Cys750Ser,ENST00000277541,NM_017617.3;							MODERATE	2248/7668	C750S	NOTC1_HUMAN			Transcript		possibly_damaging(0.723)	.	ENSP00000277541		CCDS43905.1			1	
RASSF7	0	LGGM	GRCh37	11	563566	563566	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	4	8	.	.	ENST00000397583.3:c.1043A>G	p.His348Arg	p.H348R	ENST00000397583	NM_003475.3	348	cAt/cGt	0	1	1	UPI0000127A61	0	NA	ENST00000397583		ENSG00000099849	1166		12	0		HGNC	p.H348R	rs752528871	RASSF7		SNV							ENST00000397583	protein_coding	getma.org/?cm=var&var=hg19,11,563566,A,G&fts=all				H/R		G	neutral	1476/1928	3.16E-05	getma.org/?cm=msa&ty=f&p=RASF7_HUMAN&rb=344&re=373&var=H348R	tolerated_low_confidence(0.29)	E9PM39_HUMAN			YES	RASSF7,missense_variant,p.His348Arg,ENST00000397583,NM_003475.3;RASSF7,missense_variant,p.His348Arg,ENST00000344375,;RASSF7,synonymous_variant,p.=,ENST00000454668,NM_001143994.1;RASSF7,3_prime_UTR_variant,,ENST00000431809,;RASSF7,3_prime_UTR_variant,,ENST00000397582,NM_001143993.1;C11orf35,upstream_gene_variant,,ENST00000329451,NM_173573.2;C11orf35,upstream_gene_variant,,ENST00000441853,;C11orf35,upstream_gene_variant,,ENST00000486629,;RASSF7,downstream_gene_variant,,ENST00000528736,;MIR210HG,downstream_gene_variant,,ENST00000500447,;MIR210HG,downstream_gene_variant,,ENST00000533920,;MIR210HG,downstream_gene_variant,,ENST00000528245,;MIR210HG,downstream_gene_variant,,ENST00000534540,;MIR210,downstream_gene_variant,,ENST00000362168,;RP11-496I9.1,downstream_gene_variant,,ENST00000527620,;RP11-496I9.1,downstream_gene_variant,,ENST00000533844,;RP11-496I9.1,downstream_gene_variant,,ENST00000527113,;RASSF7,downstream_gene_variant,,ENST00000524468,;RASSF7,3_prime_UTR_variant,,ENST00000414138,;RASSF7,3_prime_UTR_variant,,ENST00000531112,;C11orf35,upstream_gene_variant,,ENST00000492515,;							MODERATE	1043/1122	H348R	RASF7_HUMAN			Transcript		benign(0.002)	.	ENSP00000380713	1.65E-05	CCDS7702.1			1	
PIWIL1	0	LGGM	GRCh37	12	130841645	130841645	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	15	8	.	.	ENST00000245255.3:c.1587A>G	p.Ala529=	p.A529=	ENST00000245255	NM_004764.4	529	gcA/gcG	0	1	1	UPI000007059F	0		ENST00000245255		ENSG00000125207	9007		23			HGNC	p.A529A		PIWIL1		SNV							ENST00000245255	protein_coding			Superfamily_domains:SSF53098,Gene3D:3.40.50.2300,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31		A		G		1859/3897				F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN			YES	PIWIL1,synonymous_variant,p.=,ENST00000245255,NM_004764.4,NM_001190971.1;							LOW	1587/2586		PIWL1_HUMAN			Transcript			.	ENSP00000245255		CCDS9268.1			1	
SNX19	0	LGGM	GRCh37	11	130777968	130777968	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	11	8	.	.	ENST00000265909.4:c.2045del	p.Ser682MetfsTer7	p.S682Mfs*7	ENST00000265909	NM_014758.2	682	aGt/at	0	1	1	UPI000013D6A5	0		ENST00000265909		ENSG00000120451	21532		19			HGNC	p.S62fs		SNX19		deletion							ENST00000528555	protein_coding			hmmpanther:PTHR22775,hmmpanther:PTHR22775:SF27		S/X		-		2615/6535				E9PLV3_HUMAN,E9PJV7_HUMAN			YES	SNX19,frameshift_variant,p.Ser682MetfsTer7,ENST00000265909,NM_014758.2;SNX19,frameshift_variant,p.Ser682MetfsTer7,ENST00000533214,;SNX19,frameshift_variant,p.Ser62MetfsTer7,ENST00000530356,;SNX19,frameshift_variant,p.Ser125MetfsTer7,ENST00000539184,;SNX19,frameshift_variant,p.Ser62MetfsTer7,ENST00000528555,;SNX19,5_prime_UTR_variant,,ENST00000534726,;SNX19,intron_variant,,ENST00000545537,;SNX19,non_coding_transcript_exon_variant,,ENST00000524460,;SNX19,intron_variant,,ENST00000533318,;SNX19,upstream_gene_variant,,ENST00000526579,;SNX19,downstream_gene_variant,,ENST00000531608,;SNX19,upstream_gene_variant,,ENST00000527451,;							HIGH	2045/2979		SNX19_HUMAN			Transcript			.	ENSP00000265909		CCDS31721.1			1	
KMT2B	0	LGGM	GRCh37	19	36220867	36220867	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	12	9	.	.	ENST00000222270.7:c.4918-1G>A		p.X1640_splice	ENST00000222270	NM_014727.1			0	1		UPI00001376B5	0		ENST00000420124		ENSG00000272333	15840		21			Uniprot_gn	-		KMT2B		SNV							ENST00000420124	protein_coding							A		-/8469								KMT2B,splice_acceptor_variant,,ENST00000222270,NM_014727.1;KMT2B,splice_acceptor_variant,,ENST00000420124,;KMT2B,splice_acceptor_variant,,ENST00000607650,;KMT2B,upstream_gene_variant,,ENST00000592092,;							HIGH	4918/8148		KMT2B_HUMAN			Transcript			.	ENSP00000398837					1	
POTEG	0	LGGM	GRCh37	14	19553525	19553525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	60	9	.	.	ENST00000409832.3:c.109G>A	p.Gly37Arg	p.G37R	ENST00000409832	NM_001005356.2	37	Ggg/Agg	0	1		UPI00015DFD28	0	NA	ENST00000547889		ENSG00000222036	33896		69	0.805		HGNC	p.G37R	COSM3885744	POTEG		SNV						1	ENST00000552966	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,14,19553525,G,A&fts=all		hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF43		G/R		A	low	161/1975		getma.org/?cm=msa&ty=f&p=POTEG_HUMAN&rb=1&re=39&var=G37R	tolerated_low_confidence(0.08)					POTEG,missense_variant,p.Gly37Arg,ENST00000409832,NM_001005356.2;POTEG,missense_variant,p.Gly37Arg,ENST00000552966,;POTEG,missense_variant,p.Gly37Arg,ENST00000547889,;					1		MODERATE	109/1461	G37R	POTEG_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000448062					1	
TLN2	0	LGGM	GRCh37	15	63076012	63076012	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	13	9	.	.	ENST00000561311.1:c.5659G>T	p.Ala1887Ser	p.A1887S	ENST00000561311		1887	Gct/Tct	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=1850&to=1974&var=A1887S	ENST00000306829		ENSG00000171914	15447		22	1.77		HGNC	p.A1887S		TLN2		SNV							ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,63076012,G,T&fts=all		hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Gene3D:1.20.1440.10,Pfam_domain:PF08913,Superfamily_domains:SSF47220		A/S		T	low	5659/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=1850&re=1974&var=A1887S	tolerated(0.18)					TLN2,missense_variant,p.Ala1887Ser,ENST00000561311,;TLN2,missense_variant,p.Ala1887Ser,ENST00000306829,NM_015059.2;TLN2,missense_variant,p.Ala801Ser,ENST00000494733,;TLN2,missense_variant,p.Ala280Ser,ENST00000472902,;AC103740.1,upstream_gene_variant,,ENST00000577415,;TLN2,non_coding_transcript_exon_variant,,ENST00000489129,;							MODERATE	5659/7629	A1887S	TLN2_HUMAN			Transcript		possibly_damaging(0.456)	.	ENSP00000303476		CCDS32261.1			1	
MYCBP2	0	LGGM	GRCh37	13	77671577	77671577	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	14	9	.	.	ENST00000544440.2:c.9598G>T	p.Asp3200Tyr	p.D3200Y	ENST00000544440		3200	Gat/Tat	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		23	1.385		HGNC	p.D3238Y		MYCBP2		SNV							ENST00000407578	protein_coding	getma.org/?cm=var&var=hg19,13,77671577,C,A&fts=all		hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		D/Y		A	low	9691/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=3047&re=3246&var=D3200Y						MYCBP2,missense_variant,p.Asp3238Tyr,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Asp3200Tyr,ENST00000357337,;MYCBP2,missense_variant,p.Asp3200Tyr,ENST00000544440,;MYCBP2,downstream_gene_variant,,ENST00000360084,;MYCBP2-AS1,intron_variant,,ENST00000593933,;MYCBP2,non_coding_transcript_exon_variant,,ENST00000485061,;MYCBP2,downstream_gene_variant,,ENST00000482517,;MYCBP2,downstream_gene_variant,,ENST00000498073,;MYCBP2,downstream_gene_variant,,ENST00000462987,;							MODERATE	9598/13923	D3200Y	MYCB2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349892					1	
CTNNB1	0	LGGM	GRCh37	3	41266100	41266100	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	25	20	.	.	ENST00000349496.5:c.97T>C	p.Ser33Pro	p.S33P	ENST00000349496	NM_001904.3	33	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S33P	ENST00000349496		ENSG00000168036	2514		45	2.46		HGNC	p.S33P	COSM5682	CTNNB1		SNV			1			1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266100,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	377/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S33P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser33Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser33Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser26Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser33Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser26Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					1		MODERATE	97/2346	S33P	CTNB1_HUMAN			Transcript		benign(0.423)	.	ENSP00000344456		CCDS2694.1			1	
ZNF207	0	LGGM	GRCh37	17	30678802	30678802	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	23	10	.	.	ENST00000394670.4:c.42-3C>A		p.X14_splice	ENST00000394670	NM_001098507.1			0	1		UPI000013C31B	0		ENST00000321233		ENSG00000010244	12998		33			HGNC	p.I16I		ZNF207		SNV							ENST00000342555	protein_coding							A		-/2283				J3QS27_HUMAN,J3KTL1_HUMAN,J3KRW6_HUMAN,J3KRB6_HUMAN				ZNF207,splice_region_variant,,ENST00000394670,NM_001098507.1;ZNF207,splice_region_variant,,ENST00000577908,;ZNF207,splice_region_variant,,ENST00000321233,NM_003457.3;ZNF207,splice_region_variant,,ENST00000394673,NM_001032293.2;ZNF207,splice_region_variant,,ENST00000341711,;ZNF207,synonymous_variant,p.=,ENST00000342555,;ZNF207,5_prime_UTR_variant,,ENST00000582165,;ZNF207,5_prime_UTR_variant,,ENST00000578918,;ZNF207,5_prime_UTR_variant,,ENST00000579634,;ZNF207,5_prime_UTR_variant,,ENST00000580759,;ZNF207,intron_variant,,ENST00000394679,;C17orf75,upstream_gene_variant,,ENST00000583774,;MIR632,downstream_gene_variant,,ENST00000385193,;RP11-227G15.3,splice_region_variant,,ENST00000581915,;RP11-227G15.3,non_coding_transcript_exon_variant,,ENST00000578389,;ZNF207,splice_region_variant,,ENST00000577324,;							LOW	-/1437		ZN207_HUMAN			Transcript			.	ENSP00000322777		CCDS11271.1			1	
ZNF831	0	LGGM	GRCh37	20	57828053	57828053	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	21	10	.	.	ENST00000371030.2:c.4048C>T	p.Pro1350Ser	p.P1350S	ENST00000371030	NM_178457.2	1350	Cca/Tca	0	1	1	UPI00001D82E4	0	NA	ENST00000371030		ENSG00000124203	16167		31	1.59		HGNC	p.P1350S		ZNF831		SNV							ENST00000371030	protein_coding	getma.org/?cm=var&var=hg19,20,57828053,C,T&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF52		P/S		T	low	4048/9404		getma.org/?cm=msa&ty=f&p=ZN831_HUMAN&rb=1346&re=1675&var=P1350S	tolerated(0.29)				YES	ZNF831,missense_variant,p.Pro1350Ser,ENST00000371030,NM_178457.2;							MODERATE	4048/5034	P1350S	ZN831_HUMAN			Transcript		benign(0.268)	.	ENSP00000360069		CCDS42894.1			1	
GALR3	0	LGGM	GRCh37	22	38219653	38219653	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	19	11	.	.	ENST00000249041.2:c.240C>T	p.Ala80=	p.A80=	ENST00000249041	NM_003614.1	80	gcC/gcT	0	1	1	UPI00000015B5	0		ENST00000249041		ENSG00000128310	4134		30			HGNC	p.A80A		GALR3		SNV							ENST00000249041	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00663,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24230,hmmpanther:PTHR24230:SF17,PROSITE_profiles:PS50262		A		T		265/1157							YES	GALR3,synonymous_variant,p.=,ENST00000249041,NM_003614.1;							LOW	240/1107		GALR3_HUMAN			Transcript			.	ENSP00000249041		CCDS13958.1			1	
MKL1	0	LGGM	GRCh37	22	40819672	40819672	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	14	11	.	.	ENST00000355630.3:c.495G>A	p.Pro165=	p.P165=	ENST00000355630	NM_020831.3	165	ccG/ccA	0	1	1	UPI000007311D	0		ENST00000355630		ENSG00000196588	14334		25			HGNC	p.P165P	rs779867177,COSM4104401	MKL1		SNV			1			0,1	ENST00000355630	protein_coding			hmmpanther:PTHR22793:SF6,hmmpanther:PTHR22793		P		T		1086/4496	1.55E-05			Q29R68_HUMAN			YES	MKL1,synonymous_variant,p.=,ENST00000396617,NM_001282662.1;MKL1,synonymous_variant,p.=,ENST00000355630,NM_020831.3;MKL1,synonymous_variant,p.=,ENST00000407029,NM_001282660.1;MKL1,intron_variant,,ENST00000402042,NM_001282661.1;					0,1		LOW	495/2796		MKL1_HUMAN			Transcript			.	ENSP00000347847	8.25E-06	CCDS14003.1			1	
YIPF1	0	LGGM	GRCh37	1	54325779	54325779	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	5	11	.	.	ENST00000072644.1:c.879A>T	p.Thr293=	p.T293=	ENST00000072644	NM_018982.4	293	acA/acT	0	1	1	UPI000006FF6D	0		ENST00000072644		ENSG00000058799	25231		16			HGNC	p.T293T		YIPF1		SNV							ENST00000464950	protein_coding			hmmpanther:PTHR12822:SF4,hmmpanther:PTHR12822		T		A		1216/1803							YES	YIPF1,synonymous_variant,p.=,ENST00000072644,NM_018982.4;YIPF1,synonymous_variant,p.=,ENST00000371399,;YIPF1,synonymous_variant,p.=,ENST00000539954,;YIPF1,synonymous_variant,p.=,ENST00000464950,;							LOW	879/921		YIPF1_HUMAN			Transcript			.	ENSP00000072644		CCDS584.1			1	
PCK2	0	LGGM	GRCh37	14	24568892	24568892	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	14	11	.	.	ENST00000216780.4:c.978G>T	p.Val326=	p.V326=	ENST00000216780	NM_004563.2	326	gtG/gtT	0	1	1	UPI000013C708	0		ENST00000216780		ENSG00000100889	8725		25			HGNC	p.V192V		PCK2		SNV			1				ENST00000558096	protein_coding			Superfamily_domains:SSF53795,PIRSF_domain:PIRSF001348,Pfam_domain:PF00821,Gene3D:3.90.228.20,hmmpanther:PTHR11561:SF3,hmmpanther:PTHR11561,HAMAP:MF_00452		V		T		1246/2357				H0YNG4_HUMAN,H0YMU6_HUMAN,B4DW73_HUMAN			YES	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,;NRL,intron_variant,,ENST00000561028,;NRL,intron_variant,,ENST00000558280,;NRL,upstream_gene_variant,,ENST00000396997,;PCK2,downstream_gene_variant,,ENST00000560736,;PCK2,downstream_gene_variant,,ENST00000559837,;PCK2,upstream_gene_variant,,ENST00000559171,;PCK2,downstream_gene_variant,,ENST00000560657,;PCK2,3_prime_UTR_variant,,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,;							LOW	978/1923		PCKGM_HUMAN			Transcript			.	ENSP00000216780		CCDS9609.1			1	
OTOP3	0	LGGM	GRCh37	17	72938058	72938058	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	13	11	.	.	ENST00000328801.4:c.553G>A	p.Val185Met	p.V185M	ENST00000328801	NM_001272005.1	185	Gtg/Atg	0	1	1	UPI000019097F	0	NA	ENST00000328801		ENSG00000182938	19658		24	1.955		HGNC	p.V185M		OTOP3		SNV							ENST00000328801	protein_coding	getma.org/?cm=var&var=hg19,17,72938058,G,A&fts=all		hmmpanther:PTHR21522,hmmpanther:PTHR21522:SF36		V/M		A	medium	553/2363		getma.org/?cm=msa&ty=f&p=OTOP3_HUMAN&rb=137&re=260&var=V185M	tolerated(0.08)				YES	OTOP3,missense_variant,p.Val185Met,ENST00000328801,NM_001272005.1,NM_178233.2;OTOP3,3_prime_UTR_variant,,ENST00000580749,;							MODERATE	553/1791	V185M	OTOP3_HUMAN			Transcript		benign(0.17)	.	ENSP00000328090		CCDS11709.1			1	
TAS1R2	0	LGGM	GRCh37	1	19184085	19184085	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	22	11	.	.	ENST00000375371.3:c.223A>C	p.Met75Leu	p.M75L	ENST00000375371	NM_152232.2	75	Atg/Ctg	0	1	1	UPI0000456168	0	getma.org/pdb.php?prot=TS1R2_HUMAN&from=70&to=454&var=M75L	ENST00000375371		ENSG00000179002	14905		33	1.72		HGNC	p.M75L		TAS1R2		SNV							ENST00000375371	protein_coding	getma.org/?cm=var&var=hg19,1,19184085,T,G&fts=all		Gene3D:3.40.50.2300,Pfam_domain:PF01094,Prints_domain:PR00248,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF3,Superfamily_domains:SSF53822		M/L		G	low	245/2542		getma.org/?cm=msa&ty=f&p=TS1R2_HUMAN&rb=70&re=454&var=M75L	tolerated(0.2)				YES	TAS1R2,missense_variant,p.Met75Leu,ENST00000375371,NM_152232.2;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,;							MODERATE	223/2520	M75L	TS1R2_HUMAN			Transcript		benign(0.014)	.	ENSP00000364520		CCDS187.1			1	
SFI1	0	LGGM	GRCh37	22	32002358	32002358	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	10	12	.	.	ENST00000400288.2:c.2099A>T	p.Asp700Val	p.D700V	ENST00000400288	NM_001007467.2	700	gAt/gTt	0	1	1	UPI00004703B1	0	NA	ENST00000400288		ENSG00000198089	29064		22	0		HGNC	p.D669V		SFI1		SNV							ENST00000432498	protein_coding	getma.org/?cm=var&var=hg19,22,32002358,A,T&fts=all		hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF2		D/V		T	neutral	2204/4002		getma.org/?cm=msa&ty=f&p=SFI1_HUMAN&rb=1&re=1197&var=D700V	tolerated(0.15)				YES	SFI1,missense_variant,p.Asp669Val,ENST00000432498,NM_014775.3;SFI1,missense_variant,p.Asp645Val,ENST00000540643,NM_001258325.1;SFI1,missense_variant,p.Asp618Val,ENST00000443326,NM_001258326.1,NM_001258327.1;SFI1,missense_variant,p.Asp700Val,ENST00000400288,NM_001007467.2;SFI1,missense_variant,p.Asp547Val,ENST00000414585,;SFI1,missense_variant,p.Asp618Val,ENST00000400289,;SFI1,missense_variant,p.Asp547Val,ENST00000443011,;SFI1,missense_variant,p.Asp283Val,ENST00000417682,;SFI1,non_coding_transcript_exon_variant,,ENST00000466991,;SFI1,3_prime_UTR_variant,,ENST00000524296,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,non_coding_transcript_exon_variant,,ENST00000488883,;SFI1,intron_variant,,ENST00000452250,;SFI1,upstream_gene_variant,,ENST00000491973,;							MODERATE	2099/3729	D700V	SFI1_HUMAN			Transcript		possibly_damaging(0.636)	.	ENSP00000383145		CCDS43004.1			1	
C9orf72	0	LGGM	GRCh37	9	27548287	27548287	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	25	12	.	.	ENST00000380003.3:c.1393G>T	p.Gly465Ter	p.G465*	ENST00000380003	NM_001256054.1	465	Gga/Tga	0	1	1	UPI00001D3FEF	0	NA	ENST00000380003		ENSG00000147894	28337		37	0		HGNC	p.G465X		C9orf72		SNV			1				ENST00000380003	protein_coding	getma.org/?cm=var&var=hg19,9,27548287,C,A&fts=all		hmmpanther:PTHR31855,hmmpanther:PTHR31855:SF1		G/*		A	NA	1457/3200		NA		Q9NUW0_HUMAN			YES	C9orf72,stop_gained,p.Gly465Ter,ENST00000380003,NM_001256054.1,NM_018325.3;C9orf72,non_coding_transcript_exon_variant,,ENST00000488117,;							HIGH	1393/1446	G465*	CI072_HUMAN			Transcript			.	ENSP00000369339		CCDS6522.1			1	
STXBP4	0	LGGM	GRCh37	17	53158427	53158427	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	23	12	.	.	ENST00000376352.2:c.1372T>C	p.Leu458=	p.L458=	ENST00000376352	NM_178509.5	458	Tta/Cta	0	1	1	UPI000050D3EE	0		ENST00000376352		ENSG00000166263	19694		35			HGNC	p.L458L		STXBP4		SNV							ENST00000376352	protein_coding			hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF16		L		C		1579/6243							YES	STXBP4,synonymous_variant,p.=,ENST00000376352,NM_178509.5;STXBP4,synonymous_variant,p.=,ENST00000434978,;							LOW	1372/1662		STXB4_HUMAN			Transcript			.	ENSP00000365530		CCDS11584.2			1	
GNL3	0	LGGM	GRCh37	3	52725556	52725556	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	7	13	.	.	ENST00000418458.1:c.782-2A>T		p.X261_splice	ENST00000418458	NM_014366.4			0	1	1	UPI000003C48A	0		ENST00000418458		ENSG00000163938	29931		20			HGNC	-		GNL3		SNV							ENST00000418458	protein_coding							T		-/2040				C9JZT7_HUMAN,C9JYH9_HUMAN			YES	GNL3,splice_acceptor_variant,,ENST00000394799,NM_206825.1;GNL3,splice_acceptor_variant,,ENST00000418458,NM_014366.4,NM_206826.1;GLT8D1,downstream_gene_variant,,ENST00000407584,NM_001278280.1,NM_001010983.2,NM_001278281.1;GLT8D1,downstream_gene_variant,,ENST00000266014,NM_018446.3;GLT8D1,downstream_gene_variant,,ENST00000478968,;GLT8D1,downstream_gene_variant,,ENST00000394783,NM_152932.2;GLT8D1,downstream_gene_variant,,ENST00000491606,;GLT8D1,downstream_gene_variant,,ENST00000479553,;GNL3,downstream_gene_variant,,ENST00000474423,;GNL3,downstream_gene_variant,,ENST00000479230,;SNORD19B,downstream_gene_variant,,ENST00000459623,NR_003687.1;SNORD19B,downstream_gene_variant,,ENST00000516978,;SNORD69,upstream_gene_variant,,ENST00000391150,NR_003057.1;SNORD19,downstream_gene_variant,,ENST00000410413,;SNORD19,downstream_gene_variant,,ENST00000391191,NR_003047.1;GLT8D1,downstream_gene_variant,,ENST00000463827,;GNL3,downstream_gene_variant,,ENST00000460073,;GNL3,downstream_gene_variant,,ENST00000468146,;GNL3,splice_acceptor_variant,,ENST00000496254,;GNL3,splice_acceptor_variant,,ENST00000484022,;GLT8D1,downstream_gene_variant,,ENST00000484163,;GLT8D1,downstream_gene_variant,,ENST00000480080,;GLT8D1,downstream_gene_variant,,ENST00000485899,;GLT8D1,downstream_gene_variant,,ENST00000481643,;GNL3,downstream_gene_variant,,ENST00000492349,;GNL3,downstream_gene_variant,,ENST00000462550,;GNL3,upstream_gene_variant,,ENST00000497356,;GNL3,downstream_gene_variant,,ENST00000468885,;							HIGH	782/1650		GNL3_HUMAN			Transcript			.	ENSP00000395772		CCDS2861.1			1	
MYH6	0	LGGM	GRCh37	14	23858108	23858108	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	19	13	.	.	ENST00000405093.3:c.4135A>G	p.Thr1379Ala	p.T1379A	ENST00000405093	NM_002471.3	1379	Acg/Gcg	0	1		UPI0000160969	0	NA	ENST00000356287		ENSG00000197616	7576		32	2.335		HGNC	p.T1379A	COSM4050043	MYH6		SNV			1			1	ENST00000405093	protein_coding	getma.org/?cm=var&var=hg19,14,23858108,T,C&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF260		T/A		C	medium	4165/5871		getma.org/?cm=msa&ty=f&p=MYH6_HUMAN&rb=1070&re=1928&var=T1379A	deleterious(0.04)	Q9UQV1_HUMAN,A8CLL2_HUMAN				MYH6,missense_variant,p.Thr1379Ala,ENST00000405093,NM_002471.3;MYH6,missense_variant,p.Thr1379Ala,ENST00000356287,;MIR208A,upstream_gene_variant,,ENST00000362287,;					1		MODERATE	4135/5820	T1379A	MYH6_HUMAN			Transcript		possibly_damaging(0.859)	.	ENSP00000348634		CCDS9600.1			1	
MSANTD3	0	LGGM	GRCh37	9	103213188	103213188	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	17	13	.	.	ENST00000395067.2:c.768A>G	p.Gln256=	p.Q256=	ENST00000395067	NM_080655.2	256	caA/caG	0	1	1	UPI000006CCC7	0		ENST00000395067		ENSG00000066697	23370		30			HGNC	p.Q256Q		MSANTD3		SNV							ENST00000395067	protein_coding			hmmpanther:PTHR21632		Q		G		1039/1362							YES	MSANTD3,synonymous_variant,p.=,ENST00000395067,NM_080655.2,NM_001198806.1,NM_001198805.1;MSANTD3-TMEFF1,intron_variant,,ENST00000502978,NM_001198812.1;TMEFF1,intron_variant,,ENST00000334943,;MSANTD3,downstream_gene_variant,,ENST00000374885,NM_001198807.1;MSANTD3,downstream_gene_variant,,ENST00000374886,;MSANTD3,non_coding_transcript_exon_variant,,ENST00000489377,;							LOW	768/828		MSD3_HUMAN			Transcript			.	ENSP00000378506		CCDS6749.1			1	
KDELR2	0	LGGM	GRCh37	7	6509361	6509361	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	13	.	.	ENST00000258739.4:c.217G>A	p.Ala73Thr	p.A73T	ENST00000258739	NM_006854.3	73	Gcc/Acc	0	1	1	UPI000012A0CC	0	NA	ENST00000258739		ENSG00000136240	6305		52	1.595		HGNC	p.A73T		KDELR2		SNV							ENST00000490996	protein_coding	getma.org/?cm=var&var=hg19,7,6509361,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10585:SF6,hmmpanther:PTHR10585,Pfam_domain:PF00810		A/T		T	low	402/2884		getma.org/?cm=msa&ty=f&p=ERD22_HUMAN&rb=28&re=170&var=A73T	tolerated(0.34)				YES	KDELR2,missense_variant,p.Ala73Thr,ENST00000258739,NM_006854.3;KDELR2,missense_variant,p.Ala73Thr,ENST00000490996,NM_001100603.1;DAGLB,intron_variant,,ENST00000436575,;KDELR2,intron_variant,,ENST00000463747,;KDELR2,3_prime_UTR_variant,,ENST00000382267,;KDELR2,non_coding_transcript_exon_variant,,ENST00000454368,;KDELR2,downstream_gene_variant,,ENST00000462052,;							MODERATE	217/639	A73T	ERD22_HUMAN			Transcript		benign(0.014)	.	ENSP00000258739		CCDS5351.1			1	
CACNA2D4	0	LGGM	GRCh37	12	1984493	1984493	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	29	14	.	.	ENST00000382722.5:c.1730G>A	p.Gly577Glu	p.G577E	ENST00000382722	NM_172364.4	577	gGg/gAg	0	1	1	UPI0000E593D9	0	NA	ENST00000382722		ENSG00000151062	20202		43	2.175		HGNC	p.G552E	COSM1236740,COSM1236741	CACNA2D4		SNV			1			1,1	ENST00000587995	protein_coding	getma.org/?cm=var&var=hg19,12,1984493,C,T&fts=all		Pfam_domain:PF02743,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF26		G/E		T	medium	2093/5475		getma.org/?cm=msa&ty=f&p=CA2D4_HUMAN&rb=487&re=580&var=G577E	deleterious(0)				YES	CACNA2D4,missense_variant,p.Gly577Glu,ENST00000382722,NM_172364.4;CACNA2D4,missense_variant,p.Gly552Glu,ENST00000587995,;CACNA2D4,missense_variant,p.Gly577Glu,ENST00000586184,;CACNA2D4,missense_variant,p.Gly513Glu,ENST00000588077,;CACNA2D4,missense_variant,p.Gly513Glu,ENST00000585708,;CACNA2D4,missense_variant,p.Gly462Glu,ENST00000585732,;CACNA2D4,upstream_gene_variant,,ENST00000539048,;CACNA2D4,synonymous_variant,p.=,ENST00000444595,;CACNA2D4,non_coding_transcript_exon_variant,,ENST00000280663,;					1,1		MODERATE	1730/3414	G577E	CA2D4_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000372169		CCDS44785.1			1	
TAF4	0	LGGM	GRCh37	20	60575621	60575621	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	23	14	.	.	ENST00000252996.4:c.2643A>T	p.Arg881Ser	p.R881S	ENST00000252996	NM_003185.3	881	agA/agT	0	1	1	UPI000020630A	0	getma.org/pdb.php?prot=TAF4_HUMAN&from=834&to=1084&var=R881S	ENST00000252996		ENSG00000130699	11537		37	2.545		HGNC	p.R745S		TAF4		SNV							ENST00000436129	protein_coding	getma.org/?cm=var&var=hg19,20,60575621,T,A&fts=all		hmmpanther:PTHR15138,hmmpanther:PTHR15138:SF13,Pfam_domain:PF05236,Gene3D:1.10.20.10,Superfamily_domains:SSF47113		R/S		A	medium	2643/4628		getma.org/?cm=msa&ty=f&p=TAF4_HUMAN&rb=834&re=1084&var=R881S					YES	TAF4,missense_variant,p.Arg881Ser,ENST00000252996,NM_003185.3;TAF4,downstream_gene_variant,,ENST00000488539,;TAF4,upstream_gene_variant,,ENST00000474089,;TAF4,non_coding_transcript_exon_variant,,ENST00000436129,;TAF4,downstream_gene_variant,,ENST00000609041,;							MODERATE	2643/3258	R881S	TAF4_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000252996		CCDS33500.1			1	
AP3B2	0	LGGM	GRCh37	15	83346470	83346470	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	11	15	.	.	ENST00000261722.3:c.1331G>A	p.Arg444His	p.R444H	ENST00000261722	NM_004644.4	444	cGt/cAt	0	1	1	UPI0000125030	0	getma.org/pdb.php?prot=AP3B2_HUMAN&from=34&to=590&var=R444H	ENST00000261722		ENSG00000103723	567		26	0.345		HGNC	p.R444H	rs376790454	AP3B2		SNV	T:0.0002			0.000204			ENST00000535359	protein_coding	getma.org/?cm=var&var=hg19,15,83346470,C,T&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF01602,PIRSF_domain:PIRSF037096,hmmpanther:PTHR11134,hmmpanther:PTHR11134:SF11,Superfamily_domains:SSF48371		R/H	T:0	T	neutral	1539/3736		getma.org/?cm=msa&ty=f&p=AP3B2_HUMAN&rb=34&re=590&var=R444H	deleterious(0.01)	F5GWU4_HUMAN			YES	AP3B2,missense_variant,p.Arg444His,ENST00000261722,NM_004644.4;AP3B2,missense_variant,p.Arg444His,ENST00000535359,NM_001278512.1;AP3B2,missense_variant,p.Arg412His,ENST00000535348,NM_001278511.1;AP3B2,downstream_gene_variant,,ENST00000541693,;RP11-752G15.3,intron_variant,,ENST00000560650,;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,;AP3B2,downstream_gene_variant,,ENST00000535385,;AP3B2,downstream_gene_variant,,ENST00000559888,;							MODERATE	1331/3249	R444H	AP3B2_HUMAN			Transcript		possibly_damaging(0.682)	.	ENSP00000261722	8.26E-06	CCDS45331.1			1	
OR52A1	0	LGGM	GRCh37	11	5173110	5173110	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	44	15	.	.	ENST00000380367.1:c.490C>G	p.Leu164Val	p.L164V	ENST00000380367		164	Ctg/Gtg	0	1		UPI0000140B1E	0	NA	ENST00000328942		ENSG00000182070	8318		59	0.5		HGNC	p.L164V		OR52A1		SNV							ENST00000328942	protein_coding	getma.org/?cm=var&var=hg19,11,5173110,G,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26450:SF98,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		L/V		C	neutral	490/939		getma.org/?cm=msa&ty=f&p=O52A1_HUMAN&rb=142&re=288&var=L164V	deleterious(0.01)					OR52A1,missense_variant,p.Leu164Val,ENST00000380367,;OR52A1,missense_variant,p.Leu164Val,ENST00000328942,NM_012375.2;							MODERATE	490/939	L164V	O52A1_HUMAN			Transcript		possibly_damaging(0.558)	.	ENSP00000333684		CCDS31374.1			1	
SMYD2	0	LGGM	GRCh37	1	214492284	214492284	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	50	15	.	.	ENST00000366957.5:c.492C>T	p.Leu164=	p.L164=	ENST00000366957	NM_020197.2	164	ctC/ctT	0	1	1	UPI0000205E5F	0		ENST00000366957		ENSG00000143499	20982		65			HGNC	p.L164L	rs770920046	SMYD2		SNV							ENST00000366957	protein_coding			Superfamily_domains:SSF82199,SMART_domains:SM00317,Pfam_domain:PF00856,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF15,PROSITE_profiles:PS50280		L		T		514/1671	1.50E-05			I6L9H7_HUMAN			YES	SMYD2,synonymous_variant,p.=,ENST00000366957,NM_020197.2;SMYD2,synonymous_variant,p.=,ENST00000415093,;SMYD2,non_coding_transcript_exon_variant,,ENST00000491455,;SMYD2,non_coding_transcript_exon_variant,,ENST00000460580,;SMYD2,non_coding_transcript_exon_variant,,ENST00000471645,;							LOW	492/1302		SMYD2_HUMAN			Transcript			.	ENSP00000355924	8.24E-06	CCDS31022.1			1	
DNASE1L2	0	LGGM	GRCh37	16	2288392	2288394	+	inframe_deletion	In_Frame_Del	DEL	GGA	GGA	-	novel	by Submitter	H110379	H110379N.bam	GGA	GGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	31	15	.	.	ENST00000564065.1:c.875_877del	p.Glu292del	p.E292del	ENST00000564065		291	gtGGAg/gtg	0	1		UPI000012935A	0		ENST00000320700		ENSG00000167968	2958		46			HGNC	p.291_292del		DNASE1L2		deletion							ENST00000320700	protein_coding			hmmpanther:PTHR11371,hmmpanther:PTHR11371:SF25,Gene3D:3.60.10.10,PIRSF_domain:PIRSF000988,SMART_domains:SM00476,Superfamily_domains:SSF56219,Prints_domain:PR00130		VE/V		-		1006-1008/1326				Q6JVM3_HUMAN				DNASE1L2,inframe_deletion,p.Glu292del,ENST00000564065,;DNASE1L2,inframe_deletion,p.Glu292del,ENST00000320700,NM_001374.2;DNASE1L2,inframe_deletion,p.Glu292del,ENST00000567494,;DNASE1L2,inframe_deletion,p.Glu271del,ENST00000382437,;E4F1,downstream_gene_variant,,ENST00000301727,NM_004424.3;E4F1,downstream_gene_variant,,ENST00000564139,NM_001288776.1;E4F1,downstream_gene_variant,,ENST00000565090,NM_001288778.1;ECI1,downstream_gene_variant,,ENST00000301729,NM_001919.3;ECI1,downstream_gene_variant,,ENST00000570258,;ECI1,downstream_gene_variant,,ENST00000566379,;ECI1,downstream_gene_variant,,ENST00000562238,NM_001178029.1;DNASE1L2,downstream_gene_variant,,ENST00000569184,;RP11-304L19.12,upstream_gene_variant,,ENST00000564055,;RP11-304L19.12,upstream_gene_variant,,ENST00000594097,;RP11-304L19.11,upstream_gene_variant,,ENST00000565709,;E4F1,downstream_gene_variant,,ENST00000569796,;ECI1,downstream_gene_variant,,ENST00000563447,;E4F1,downstream_gene_variant,,ENST00000563643,;ECI1,downstream_gene_variant,,ENST00000563029,;E4F1,downstream_gene_variant,,ENST00000567111,;E4F1,downstream_gene_variant,,ENST00000564930,;							MODERATE	873-875/900		DNSL2_HUMAN			Transcript	2		.	ENSP00000316938		CCDS42105.1			1	
NDST2	0	LGGM	GRCh37	10	75567686	75567686	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	7	15	.	.	ENST00000309979.6:c.461G>T	p.Arg154Leu	p.R154L	ENST00000309979		154	cGg/cTg	0	1		UPI00020658C4	0	NA	ENST00000299641		ENSG00000166507	7681		22	2.98		HGNC	p.R31L		NDST2		SNV							ENST00000299641	protein_coding	getma.org/?cm=var&var=hg19,10,75567686,C,A&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36		R/L		A	medium	1063/3789		getma.org/?cm=msa&ty=f&p=NDST2_HUMAN&rb=24&re=514&var=R154L	deleterious(0)	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN				NDST2,missense_variant,p.Arg31Leu,ENST00000299641,NM_003635.3;NDST2,missense_variant,p.Arg154Leu,ENST00000309979,;CAMK2G,downstream_gene_variant,,ENST00000423381,NM_001204492.1;CAMK2G,downstream_gene_variant,,ENST00000322680,NM_172170.4,NM_172171.2;CAMK2G,downstream_gene_variant,,ENST00000394762,;CAMK2G,downstream_gene_variant,,ENST00000322635,NM_172169.2;CAMK2G,downstream_gene_variant,,ENST00000351293,NM_001222.3,NM_172173.2;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,downstream_gene_variant,,ENST00000398701,;NDST2,downstream_gene_variant,,ENST00000465929,;NDST2,upstream_gene_variant,,ENST00000463410,;RP11-574K11.31,missense_variant,p.Arg154Leu,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;							MODERATE	92/2283	R154L				Transcript		probably_damaging(0.93)	.	ENSP00000299641					1	
PTGER3	0	LGGM	GRCh37	1	71328074	71328074	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	23	15	.	.	ENST00000361210.2:c.1187C>A	p.Pro396His	p.P396H	ENST00000361210		396	cCc/cAc	0	1		UPI00004CF8B1	0		ENST00000351052		ENSG00000050628	9595		38			HGNC	p.P419H		PTGER3		SNV							ENST00000497146	protein_coding							T		-/2021				Q9UBW3_HUMAN,Q5CZ57_HUMAN				PTGER3,intron_variant,,ENST00000351052,;PTGER3,intron_variant,,ENST00000370931,NM_198714.1;PTGER3,intron_variant,,ENST00000370932,NM_198717.1;PTGER3,intron_variant,,ENST00000460330,NM_198716.1;PTGER3,missense_variant,p.Pro419His,ENST00000497146,;PTGER3,missense_variant,p.Pro396His,ENST00000361210,;PTGER3,missense_variant,p.Pro387His,ENST00000479353,;							MODIFIER	-/1260					Transcript			.	ENSP00000280208					1	
FBN1	0	LGGM	GRCh37	15	48757886	48757886	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	24	15	.	.	ENST00000316623.5:c.4821T>C	p.Ile1607=	p.I1607=	ENST00000316623	NM_000138.4	1607	atT/atC	0	1	1	UPI0000163B0B	0		ENST00000316623		ENSG00000166147	3603		39			HGNC	p.I1607I		FBN1		SNV			1				ENST00000316623	protein_coding			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,Superfamily_domains:SSF57196,Superfamily_domains:SSF57581		I		G		5277/11756				Q75N89_HUMAN,Q75N88_HUMAN,H0YN80_HUMAN			YES	FBN1,synonymous_variant,p.=,ENST00000316623,NM_000138.4;FBN1,synonymous_variant,p.=,ENST00000559133,;FBN1,3_prime_UTR_variant,,ENST00000537463,;							LOW	4821/8616		FBN1_HUMAN			Transcript			.	ENSP00000325527		CCDS32232.1			1	
ALDH3B2	0	LGGM	GRCh37	11	67431932	67431932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	21	16	.	.	ENST00000349015.3:c.808G>A	p.Ala270Thr	p.A270T	ENST00000349015	NM_000695.3	270	Gcc/Acc	0	1	1	UPI000013CE83	0	getma.org/pdb.php?prot=AL3B2_HUMAN&from=4&to=347&var=A270T	ENST00000349015		ENSG00000132746	411	0.000777	37	3.485		HGNC	p.A270T	rs771376111	ALDH3B2		SNV							ENST00000349015	protein_coding	getma.org/?cm=var&var=hg19,11,67431932,C,T&fts=all		hmmpanther:PTHR11699:SF119,hmmpanther:PTHR11699,Pfam_domain:PF00171,Gene3D:3.40.309.10,Superfamily_domains:SSF53720		A/T		T	medium	1247/2649		getma.org/?cm=msa&ty=f&p=AL3B2_HUMAN&rb=4&re=347&var=A270T	deleterious(0)	E9PKY9_HUMAN,E9PJV0_HUMAN			YES	ALDH3B2,missense_variant,p.Ala270Thr,ENST00000349015,NM_000695.3;ALDH3B2,missense_variant,p.Ala270Thr,ENST00000530069,NM_001031615.1;ALDH3B2,missense_variant,p.Ala41Thr,ENST00000531248,;ALDH3B2,downstream_gene_variant,,ENST00000525827,;ALDH3B2,downstream_gene_variant,,ENST00000528756,;ALDH3B2,downstream_gene_variant,,ENST00000531881,;ALDH3B2,downstream_gene_variant,,ENST00000533962,;ALDH3B2,non_coding_transcript_exon_variant,,ENST00000534425,;							MODERATE	808/1158	A270T	AL3B2_HUMAN			Transcript		probably_damaging(0.99)	common_variant	ENSP00000255084	7.41E-05	CCDS31622.1			1	
UMODL1	0	LGGM	GRCh37	21	43543079	43543079	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	24	16	.	.	ENST00000408989.2:c.3350T>A	p.Val1117Asp	p.V1117D	ENST00000408989	NM_173568.3	1117	gTc/gAc	0	1		UPI00006C2192	0	NA	ENST00000408910		ENSG00000177398	12560		40	1.04		HGNC	p.V1117D		UMODL1		SNV							ENST00000408989	protein_coding	getma.org/?cm=var&var=hg19,21,43543079,T,A&fts=all		hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135		V/D		A	low	2966/4878		getma.org/?cm=msa&ty=f&p=UROL1_HUMAN&rb=942&re=991&var=V989D	deleterious(0.02)	Q6L9N9_HUMAN				UMODL1,missense_variant,p.Val917Asp,ENST00000400424,NM_001199528.2;UMODL1,missense_variant,p.Val1045Asp,ENST00000400427,NM_001199527.1;UMODL1,missense_variant,p.Val1117Asp,ENST00000408989,NM_173568.3;UMODL1,missense_variant,p.Val989Asp,ENST00000408910,NM_001004416.2;UMODL1,non_coding_transcript_exon_variant,,ENST00000400423,;UMODL1,intron_variant,,ENST00000484174,;UMODL1,upstream_gene_variant,,ENST00000484712,;							MODERATE	2966/3957	V989D	UROL1_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000386147		CCDS42936.1			1	
TBCE	0	LGGM	GRCh37	1	235599758	235599758	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	46	16	.	.	ENST00000366601.3:c.891T>A	p.Ala297=	p.A297=	ENST00000366601		297	gcT/gcA	0	1	1	UPI000006F791	0		ENST00000366601		ENSG00000116957	11582		62			HGNC	p.A297A		TBCE		SNV			1				ENST00000366601	protein_coding			Gene3D:3.80.10.10,hmmpanther:PTHR15140,hmmpanther:PTHR15140:SF6,Superfamily_domains:SSF52047		A		A		1067/1966							YES	TBCE,synonymous_variant,p.=,ENST00000543662,NM_001287801.1;TBCE,synonymous_variant,p.=,ENST00000366601,;TBCE,synonymous_variant,p.=,ENST00000406207,NM_001079515.1,NM_003193.3;TBCE,non_coding_transcript_exon_variant,,ENST00000472011,;TBCE,downstream_gene_variant,,ENST00000482230,;TBCE,downstream_gene_variant,,ENST00000461651,;RPS21P1,downstream_gene_variant,,ENST00000434479,;							LOW	891/1584		TBCE_HUMAN			Transcript			.	ENSP00000355560		CCDS1605.1			1	
NPY1R	0	LGGM	GRCh37	4	164246777	164246777	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	21	17	.	.	ENST00000296533.2:c.833C>T	p.Pro278Leu	p.P278L	ENST00000296533	NM_000909.5	278	cCt/cTt	0	1	1	UPI000002D509	0	getma.org/pdb.php?prot=NPY1R_HUMAN&from=57&to=320&var=P278L	ENST00000296533		ENSG00000164128	7956		38	4.455		HGNC	p.P35L		NPY1R		SNV							ENST00000509586	protein_coding	getma.org/?cm=var&var=hg19,4,164246777,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF214,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		P/L		A	high	1365/3029		getma.org/?cm=msa&ty=f&p=NPY1R_HUMAN&rb=57&re=320&var=P278L	deleterious(0)	D6RI97_HUMAN,D6RHH6_HUMAN,D6REY0_HUMAN,D6RC44_HUMAN,D6R9D0_HUMAN,B4DKL9_HUMAN			YES	NPY1R,missense_variant,p.Pro278Leu,ENST00000296533,NM_000909.5;NPY1R,missense_variant,p.Pro35Leu,ENST00000509586,;NPY1R,missense_variant,p.Pro35Leu,ENST00000504391,;NPY1R,downstream_gene_variant,,ENST00000515701,;NPY1R,downstream_gene_variant,,ENST00000511901,;NPY1R,downstream_gene_variant,,ENST00000512819,;NPY1R,downstream_gene_variant,,ENST00000504790,;							MODERATE	833/1155	P278L	NPY1R_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354652		CCDS34089.1			1	
MPHOSPH9	0	LGGM	GRCh37	12	123706198	123706198	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	22	17	.	.	ENST00000392425.3:c.137G>T	p.Gly46Val	p.G46V	ENST00000392425		46	gGa/gTa	0	1		UPI00001FB90F	0	NA	ENST00000606320		ENSG00000051825	7215		39	1.935		HGNC	p.G46V		MPHOSPH9		SNV							ENST00000392425	protein_coding	getma.org/?cm=var&var=hg19,12,123706198,C,A&fts=all		hmmpanther:PTHR14926:SF1,hmmpanther:PTHR14926		G/V		A	medium	800/6351		getma.org/?cm=msa&ty=f&p=MPP9_HUMAN&rb=39&re=1029&var=G46V	deleterious(0)	U3KQ28_HUMAN,F5H1W2_HUMAN,F5GZJ0_HUMAN				MPHOSPH9,missense_variant,p.Gly198Val,ENST00000606320,NM_022782.3;MPHOSPH9,missense_variant,p.Gly168Val,ENST00000541076,;MPHOSPH9,missense_variant,p.Gly46Val,ENST00000392425,;MPHOSPH9,missense_variant,p.Gly46Val,ENST00000302349,;MPHOSPH9,missense_variant,p.Gly55Val,ENST00000539336,;MPHOSPH9,intron_variant,,ENST00000537854,;MPHOSPH9,downstream_gene_variant,,ENST00000541437,;MPHOSPH9,downstream_gene_variant,,ENST00000539639,;MPHOSPH9,downstream_gene_variant,,ENST00000538169,;MPHOSPH9,missense_variant,p.Gly66Val,ENST00000302373,;MPHOSPH9,3_prime_UTR_variant,,ENST00000545556,;MPHOSPH9,upstream_gene_variant,,ENST00000539024,;MPHOSPH9,downstream_gene_variant,,ENST00000535049,;							MODERATE	593/3552	G46V				Transcript		probably_damaging(1)	.	ENSP00000475489		CCDS9243.2			1	
FERMT1	0	LGGM	GRCh37	20	6091105	6091105	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	30	17	.	.	ENST00000217289.4:c.586G>A	p.Gly196Arg	p.G196R	ENST00000217289	NM_017671.4	196	Gga/Aga	0	1	1	UPI00001285DD	0	NA	ENST00000217289		ENSG00000101311	15889		47	2.215		HGNC	p.G196R		FERMT1		SNV			1				ENST00000217289	protein_coding	getma.org/?cm=var&var=hg19,20,6091105,C,T&fts=all		hmmpanther:PTHR16160:SF12,hmmpanther:PTHR16160,Pfam_domain:PF09379,SMART_domains:SM00295		G/R		T	medium	1375/5151		getma.org/?cm=msa&ty=f&p=FERM1_HUMAN&rb=99&re=276&var=G196R	tolerated(0.08)	Q5JWV4_HUMAN,G3V1L6_HUMAN			YES	FERMT1,missense_variant,p.Gly196Arg,ENST00000217289,NM_017671.4;FERMT1,intron_variant,,ENST00000536936,;FERMT1,downstream_gene_variant,,ENST00000378844,;							MODERATE	586/2034	G196R	FERM1_HUMAN			Transcript		possibly_damaging(0.582)	.	ENSP00000217289		CCDS13098.1			1	
UMODL1	0	LGGM	GRCh37	21	43543080	43543080	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	24	17	.	.	ENST00000408989.2:c.3351C>A	p.Val1117=	p.V1117=	ENST00000408989	NM_173568.3	1117	gtC/gtA	0	1		UPI00006C2192	0		ENST00000408910		ENSG00000177398	12560		41			HGNC	p.V1117V		UMODL1		SNV							ENST00000408989	protein_coding			hmmpanther:PTHR22962,hmmpanther:PTHR22962:SF135		V		A		2967/4878				Q6L9N9_HUMAN				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,non_coding_transcript_exon_variant,,ENST00000400423,;UMODL1,intron_variant,,ENST00000484174,;UMODL1,upstream_gene_variant,,ENST00000484712,;							LOW	2967/3957		UROL1_HUMAN			Transcript			.	ENSP00000386147		CCDS42936.1			1	
STK10	0	LGGM	GRCh37	5	171583648	171583648	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	14	17	.	.	ENST00000176763.5:c.301T>A	p.Tyr101Asn	p.Y101N	ENST00000176763	NM_005990.3	101	Tat/Aat	0	1	1	UPI0000136104	0	getma.org/pdb.php?prot=STK10_HUMAN&from=36&to=294&var=Y101N	ENST00000176763		ENSG00000072786	11388		31	-0.055		HGNC	p.Y101N		STK10		SNV			1				ENST00000176763	protein_coding	getma.org/?cm=var&var=hg19,5,171583648,A,T&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF195,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/N		T	neutral	645/6060		getma.org/?cm=msa&ty=f&p=STK10_HUMAN&rb=36&re=294&var=Y101N	deleterious(0)				YES	STK10,missense_variant,p.Tyr101Asn,ENST00000176763,NM_005990.3;STK10,non_coding_transcript_exon_variant,,ENST00000519710,;							MODERATE	301/2907	Y101N	STK10_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000176763		CCDS34290.1			1	
PEX6	0	LGGM	GRCh37	6	42946188	42946188	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	18	17	.	.	ENST00000304611.8:c.701C>T	p.Thr234Ile	p.T234I	ENST00000304611	NM_000287.3	234	aCt/aTt	0	1	1	UPI00001316EC	0	NA	ENST00000304611		ENSG00000124587	8859		35	1.39		HGNC	p.T234I		PEX6		SNV			1				ENST00000244546	protein_coding	getma.org/?cm=var&var=hg19,6,42946188,G,A&fts=all		hmmpanther:PTHR23077:SF9,hmmpanther:PTHR23077		T/I		A	low	771/3478		getma.org/?cm=msa&ty=f&p=PEX6_HUMAN&rb=201&re=398&var=T234I	tolerated(0.25)				YES	PEX6,missense_variant,p.Thr234Ile,ENST00000304611,NM_000287.3;PEX6,missense_variant,p.Thr234Ile,ENST00000244546,;							MODERATE	701/2943	T234I	PEX6_HUMAN			Transcript		benign(0.002)	.	ENSP00000303511		CCDS4877.1			1	
PEBP4	0	LGGM	GRCh37	8	22584705	22584705	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	5	17	.	.	ENST00000256404.6:c.386A>G	p.Gln129Arg	p.Q129R	ENST00000256404	NM_144962.2	129	cAg/cGg	0	1	1	UPI0000037788	0	getma.org/pdb.php?prot=PEBP4_HUMAN&from=57&to=197&var=Q129R	ENST00000256404		ENSG00000134020	28319		22	1.15		HGNC	p.Q129R		PEBP4		SNV							ENST00000256404	protein_coding	getma.org/?cm=var&var=hg19,8,22584705,T,C&fts=all		Gene3D:3.90.280.10,Pfam_domain:PF01161,hmmpanther:PTHR11362,hmmpanther:PTHR11362:SF12,Superfamily_domains:SSF49777		Q/R		C	low	478/890		getma.org/?cm=msa&ty=f&p=PEBP4_HUMAN&rb=57&re=197&var=Q129R	tolerated(0.49)				YES	PEBP4,missense_variant,p.Gln129Arg,ENST00000256404,NM_144962.2;RP11-459E5.1,intron_variant,,ENST00000523627,;							MODERATE	386/684	Q129R	PEBP4_HUMAN			Transcript		benign(0.005)	.	ENSP00000256404		CCDS43724.1			1	
UNC13A	0	LGGM	GRCh37	19	17756594	17756594	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	31	18	.	.	ENST00000519716.2:c.2245A>G	p.Ile749Val	p.I749V	ENST00000519716	NM_001080421.2	749	Atc/Gtc	0	1	1	UPI00006C19A7	0	getma.org/pdb.php?prot=UN13A_HUMAN&from=678&to=769&var=I749V	ENST00000519716		ENSG00000130477	23150		49	-0.695		HGNC	p.I749V		UNC13A		SNV			1				ENST00000552293	protein_coding	getma.org/?cm=var&var=hg19,19,17756594,T,C&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,PROSITE_profiles:PS50004,hmmpanther:PTHR10480,SMART_domains:SM00239,Superfamily_domains:SSF49562		I/V		C	neutral	2245/9838		getma.org/?cm=msa&ty=f&p=UN13A_HUMAN&rb=678&re=769&var=I749V	deleterious(0)				YES	UNC13A,missense_variant,p.Ile837Val,ENST00000428389,;UNC13A,missense_variant,p.Ile749Val,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Ile749Val,ENST00000252773,;UNC13A,missense_variant,p.Ile749Val,ENST00000551649,;UNC13A,missense_variant,p.Ile749Val,ENST00000552293,;UNC13A,missense_variant,p.Ile747Val,ENST00000550896,;							MODERATE	2245/5112	I749V	UN13A_HUMAN			Transcript		possibly_damaging(0.815)	.	ENSP00000429562		CCDS46013.2			1	
CCDC96	0	LGGM	GRCh37	4	7043903	7043903	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	41	18	.	.	ENST00000310085.4:c.763G>T	p.Glu255Ter	p.E255*	ENST00000310085	NM_153376.2	255	Gag/Tag	0	1	1	UPI00000705C9	0	NA	ENST00000310085		ENSG00000173013	26900		59	0		HGNC	p.E255X		CCDC96		SNV							ENST00000310085	protein_coding	getma.org/?cm=var&var=hg19,4,7043903,C,A&fts=all		hmmpanther:PTHR15654,hmmpanther:PTHR15654:SF1		E/*		A	NA	826/2150		NA					YES	CCDC96,stop_gained,p.Glu255Ter,ENST00000310085,NM_153376.2;TADA2B,intron_variant,,ENST00000506692,;TADA2B,upstream_gene_variant,,ENST00000310074,NM_152293.2;TADA2B,upstream_gene_variant,,ENST00000512388,;RP11-367J11.2,intron_variant,,ENST00000500031,;							HIGH	763/1668	E255*	CCD96_HUMAN			Transcript			.	ENSP00000309285		CCDS3395.1			1	
SLCO1C1	0	LGGM	GRCh37	12	20905388	20905388	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	21	19	.	.	ENST00000381552.1:c.2168C>T	p.Pro723Leu	p.P723L	ENST00000381552		723	cCa/cTa	0	1		UPI00000557C4	0	NA	ENST00000266509		ENSG00000139155	13819		40	0		HGNC	p.Q689X		SLCO1C1		SNV							ENST00000266509	protein_coding	getma.org/?cm=var&var=hg19,12,20905388,C,T&fts=all		hmmpanther:PTHR11388:SF18,hmmpanther:PTHR11388		Q/*		T	NA	2433/3365		NA						SLCO1C1,stop_gained,p.Gln689Ter,ENST00000266509,NM_017435.4;SLCO1C1,stop_gained,p.Gln640Ter,ENST00000540354,NM_001145945.1;SLCO1C1,missense_variant,p.Pro723Leu,ENST00000381552,;SLCO1C1,missense_variant,p.Pro723Leu,ENST00000545604,NM_001145946.1;SLCO1C1,missense_variant,p.Pro605Leu,ENST00000545102,NM_001145944.1;SLCO1C1,3_prime_UTR_variant,,ENST00000539415,;							HIGH	2065/2139	Q689*	SO1C1_HUMAN			Transcript			.	ENSP00000266509		CCDS8683.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70674022	70674022	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	34	19	.	.	ENST00000260126.4:c.996T>C	p.Asn332=	p.N332=	ENST00000260126	NM_030958.2	332	aaT/aaC	0	1	1	UPI0000140F53	0		ENST00000260126		ENSG00000137571	19046		53			HGNC	p.N332N		SLCO5A1		SNV							ENST00000530307	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805		N		G		1703/9076							YES	SLCO5A1,synonymous_variant,p.=,ENST00000260126,NM_030958.2;SLCO5A1,synonymous_variant,p.=,ENST00000524945,NM_001146008.1;SLCO5A1,synonymous_variant,p.=,ENST00000530307,NM_001146009.1;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,;							LOW	996/2547		SO5A1_HUMAN			Transcript			.	ENSP00000260126		CCDS6205.1			1	
CTCF	0	LGGM	GRCh37	16	67655447	67655447	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	22	19	.	.	ENST00000264010.4:c.1310T>A	p.Phe437Tyr	p.F437Y	ENST00000264010	NM_006565.3	437	tTt/tAt	0	1	1	UPI0000000DDE	0	getma.org/pdb.php?prot=CTCF_HUMAN&from=437&to=460&var=F437Y	ENST00000264010		ENSG00000102974	13723		41	1.055		HGNC	p.F109Y		CTCF		SNV			1				ENST00000401394	protein_coding	getma.org/?cm=var&var=hg19,16,67655447,T,A&fts=all		Pfam_domain:PF00096,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF123,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/Y		A	low	1754/3939		getma.org/?cm=msa&ty=f&p=CTCF_HUMAN&rb=417&re=480&var=F437Y	tolerated(0.69)				YES	CTCF,missense_variant,p.Phe437Tyr,ENST00000264010,NM_006565.3;CTCF,missense_variant,p.Phe109Tyr,ENST00000401394,NM_001191022.1;							MODERATE	1310/2184	F437Y	CTCF_HUMAN			Transcript		benign(0.04)	.	ENSP00000264010		CCDS10841.1			1	
WDR7	0	LGGM	GRCh37	18	54363599	54363599	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	30	19	.	.	ENST00000254442.3:c.1484T>A	p.Ile495Lys	p.I495K	ENST00000254442	NM_015285.2	495	aTa/aAa	0	1	1	UPI000013CE33	0	NA	ENST00000254442		ENSG00000091157	13490		49	0.445		HGNC	p.I495K		WDR7		SNV							ENST00000357574	protein_coding	getma.org/?cm=var&var=hg19,18,54363599,T,A&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF48,PROSITE_patterns:PS00678,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50998		I/K		A	neutral	1695/9074		getma.org/?cm=msa&ty=f&p=WDR7_HUMAN&rb=454&re=498&var=I495K	deleterious(0.02)	K7ERP9_HUMAN,K7EPQ4_HUMAN,K7EMB8_HUMAN,K7ELZ4_HUMAN			YES	WDR7,missense_variant,p.Ile495Lys,ENST00000254442,NM_015285.2;WDR7,missense_variant,p.Ile495Lys,ENST00000357574,NM_052834.2;WDR7,intron_variant,,ENST00000589935,;WDR7,non_coding_transcript_exon_variant,,ENST00000585754,;							MODERATE	1484/4473	I495K	WDR7_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000254442		CCDS11962.1			1	
PIWIL1	0	LGGM	GRCh37	12	130841503	130841503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	16	19	.	.	ENST00000245255.3:c.1445C>A	p.Thr482Lys	p.T482K	ENST00000245255	NM_004764.4	482	aCa/aAa	0	1	1	UPI000007059F	0	NA	ENST00000245255		ENSG00000125207	9007		35	2.125		HGNC	p.T482K		PIWIL1		SNV							ENST00000245255	protein_coding	getma.org/?cm=var&var=hg19,12,130841503,C,A&fts=all		Superfamily_domains:SSF53098,Gene3D:3.40.50.2300,hmmpanther:PTHR22892,hmmpanther:PTHR22892:SF31		T/K		A	medium	1717/3897		getma.org/?cm=msa&ty=f&p=PIWL1_HUMAN&rb=415&re=554&var=T482K	deleterious(0.01)	F5H889_HUMAN,F5H3U6_HUMAN,F5H2F7_HUMAN,F5GZL9_HUMAN,F5GYG0_HUMAN,F5GWW4_HUMAN			YES	PIWIL1,missense_variant,p.Thr482Lys,ENST00000245255,NM_004764.4,NM_001190971.1;							MODERATE	1445/2586	T482K	PIWL1_HUMAN			Transcript		benign(0.276)	.	ENSP00000245255		CCDS9268.1			1	
MST1R	0	LGGM	GRCh37	3	49933749	49933749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	25	19	.	.	ENST00000296474.3:c.2528G>T	p.Ser843Ile	p.S843I	ENST00000296474	NM_002447.2	843	aGt/aTt	0	1	1	UPI000013E344	0	NA	ENST00000296474		ENSG00000164078	7381		44	2.045		HGNC	p.S843I		MST1R		SNV							ENST00000411578	protein_coding	getma.org/?cm=var&var=hg19,3,49933749,C,A&fts=all		PIRSF_domain:PIRSF000617,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113,SMART_domains:SM00429,Superfamily_domains:SSF81296		S/I		A	medium	2556/4536		getma.org/?cm=msa&ty=f&p=RON_HUMAN&rb=770&re=860&var=S843I	deleterious(0)				YES	MST1R,missense_variant,p.Ser843Ile,ENST00000296474,NM_002447.2;MST1R,missense_variant,p.Ser843Ile,ENST00000344206,NM_001244937.1;MST1R,upstream_gene_variant,,ENST00000434765,;MST1R,upstream_gene_variant,,ENST00000440292,;CTD-2330K9.2,upstream_gene_variant,,ENST00000435478,;MST1R,missense_variant,p.Ser843Ile,ENST00000411578,;MST1R,non_coding_transcript_exon_variant,,ENST00000468525,;MST1R,downstream_gene_variant,,ENST00000485044,;MST1R,downstream_gene_variant,,ENST00000493535,;MST1R,downstream_gene_variant,,ENST00000497001,;MST1R,upstream_gene_variant,,ENST00000463789,;MST1R,upstream_gene_variant,,ENST00000467110,;MST1R,upstream_gene_variant,,ENST00000490053,;							MODERATE	2528/4203	S843I	RON_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000296474		CCDS2807.1			1	
GPRC6A	0	LGGM	GRCh37	6	117150152	117150152	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	31	19	.	.	ENST00000310357.3:c.25A>G	p.Thr9Ala	p.T9A	ENST00000310357	NM_148963.2	9	Acc/Gcc	0	1	1	UPI000013EFF9	0	NA	ENST00000310357		ENSG00000173612	18510		50	0		HGNC	p.T9A		GPRC6A		SNV							ENST00000530250	protein_coding	getma.org/?cm=var&var=hg19,6,117150152,T,C&fts=all		hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF5,Cleavage_site_(Signalp):SignalP-noTM		T/A		C	neutral	47/2860		getma.org/?cm=msa&ty=f&p=GPC6A_HUMAN&rb=1&re=72&var=T9A	tolerated(0.48)				YES	GPRC6A,missense_variant,p.Thr9Ala,ENST00000310357,NM_148963.2;GPRC6A,missense_variant,p.Thr9Ala,ENST00000368549,NM_001286355.1;GPRC6A,missense_variant,p.Thr9Ala,ENST00000530250,NM_001286354.1;							MODERATE	25/2781	T9A	GPC6A_HUMAN			Transcript		benign(0.08)	.	ENSP00000309493		CCDS5112.1			1	
ALMS1	0	LGGM	GRCh37	2	73679455	73679455	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	37	20	.	.	ENST00000264448.6:c.5798C>A	p.Pro1933Gln	p.P1933Q	ENST00000264448	NM_015120.4	1933	cCa/cAa	0	1	1	UPI0000212786	0	NA	ENST00000264448		ENSG00000116127	428		57	0.895		HGNC	p.P1933Q		ALMS1		SNV			1				ENST00000377715	protein_coding	getma.org/?cm=var&var=hg19,2,73679455,C,A&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23		P/Q		A	low	5909/12922		getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=P1933Q		A6NMY3_HUMAN			YES	ALMS1,missense_variant,p.Pro1933Gln,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Pro1891Gln,ENST00000409009,;ALMS1,missense_variant,p.Pro1933Gln,ENST00000377715,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,missense_variant,p.Pro211Gln,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000484298,;							MODERATE	5798/12504	P1933Q	ALMS1_HUMAN			Transcript		benign(0.142)	.	ENSP00000264448		CCDS42697.1			1	
POLQ	0	LGGM	GRCh37	3	121151234	121151234	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	15	20	.	.	ENST00000264233.5:c.7690A>G	p.Ser2564Gly	p.S2564G	ENST00000264233	NM_199420.3	2564	Agt/Ggt	0	1	1	UPI0000D61B5F	0	getma.org/pdb.php?prot=DPOLQ_HUMAN&from=2301&to=2585&var=S2564G	ENST00000264233		ENSG00000051341	9186		35	0.41		HGNC	p.S2564G		POLQ		SNV							ENST00000264233	protein_coding	getma.org/?cm=var&var=hg19,3,121151234,T,C&fts=all		Gene3D:3.30.70.370,Pfam_domain:PF00476,Superfamily_domains:SSF56672		S/G		C	neutral	7819/8775		getma.org/?cm=msa&ty=f&p=DPOLQ_HUMAN&rb=2301&re=2585&var=S2564G	deleterious(0.03)				YES	POLQ,missense_variant,p.Ser2564Gly,ENST00000264233,NM_199420.3;							MODERATE	7690/7773	S2564G	DPOLQ_HUMAN			Transcript		benign(0.314)	.	ENSP00000264233		CCDS33833.1			1	
FSIP2	0	LGGM	GRCh37	2	186668362	186668362	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	37	21	.	.	ENST00000343098.5:c.14596T>A	p.Phe4866Ile	p.F4866I	ENST00000343098	NM_173651.2	4866	Ttc/Atc	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		58	0.55		HGNC	p.F4777I		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186668362,T,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		F/I		A	neutral	14329/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=4711&re=4910&var=F4777I						FSIP2,missense_variant,p.Phe4866Ile,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Phe4777Ile,ENST00000424728,;AC008174.3,upstream_gene_variant,,ENST00000436557,;AC008174.3,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;							MODERATE	14329/20724	F4777I	FSIP2_HUMAN			Transcript		benign(0.191)	.	ENSP00000401306					1	
KCNA2	0	LGGM	GRCh37	1	111146244	111146244	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	25	21	.	.	ENST00000485317.1:c.1161A>G	p.Gly387=	p.G387=	ENST00000485317		387	ggA/ggG	0	1		UPI00001279A1	0		ENST00000316361		ENSG00000177301	6220		46			HGNC	p.G387G		KCNA2		SNV			1				ENST00000440270	protein_coding			Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF23,Superfamily_domains:SSF81324		G		C		1782/2150								KCNA2,synonymous_variant,p.=,ENST00000485317,;KCNA2,synonymous_variant,p.=,ENST00000316361,NM_004974.3;KCNA2,synonymous_variant,p.=,ENST00000440270,;KCNA2,intron_variant,,ENST00000369770,NM_001204269.1;KCNA2,downstream_gene_variant,,ENST00000525120,;							LOW	1161/1500		KCNA2_HUMAN			Transcript			.	ENSP00000314520		CCDS827.1			1	
FAM172A	0	LGGM	GRCh37	5	93294656	93294656	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	25	21	.	.	ENST00000395965.3:c.393T>A	p.Ser131Arg	p.S131R	ENST00000395965	NM_032042.5	131	agT/agA	0	1	1	UPI000006DF3B	0	NA	ENST00000395965		ENSG00000113391	25365		46	1.23		HGNC	p.S131R		FAM172A		SNV							ENST00000395965	protein_coding	getma.org/?cm=var&var=hg19,5,93294656,A,T&fts=all		hmmpanther:PTHR21357,hmmpanther:PTHR21357:SF3,Pfam_domain:PF09757		S/R		T	low	536/4312		getma.org/?cm=msa&ty=f&p=F172A_HUMAN&rb=76&re=229&var=S131R	tolerated(0.15)				YES	FAM172A,missense_variant,p.Ser131Arg,ENST00000395965,NM_032042.5;FAM172A,missense_variant,p.Ser85Arg,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509739,;FAM172A,non_coding_transcript_exon_variant,,ENST00000504768,;FAM172A,missense_variant,p.Ser48Arg,ENST00000502503,;FAM172A,non_coding_transcript_exon_variant,,ENST00000506398,;							MODERATE	393/1251	S131R	F172A_HUMAN			Transcript		benign(0.079)	.	ENSP00000379294		CCDS4069.1			1	
ENPP3	0	LGGM	GRCh37	6	131974033	131974033	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	26	22	.	.	ENST00000414305.1:c.464+2T>C		p.X155_splice	ENST00000414305				0	1		UPI000013DD9F	0		ENST00000357639		ENSG00000154269	3358		48			HGNC	-	rs781663942	ENPP3	6.08E-05	SNV							ENST00000427707	protein_coding							C		-/3154	1.50E-05			Q9UNI4_HUMAN,Q9NQM9_HUMAN,Q9H515_HUMAN,F5GY67_HUMAN				ENPP3,splice_donor_variant,,ENST00000414305,;ENPP3,splice_donor_variant,,ENST00000357639,NM_005021.3;ENPP3,splice_donor_variant,,ENST00000358229,;ENPP3,splice_donor_variant,,ENST00000543135,;ENPP3,splice_donor_variant,,ENST00000427148,;ENPP3,intron_variant,,ENST00000470930,;ENPP3,splice_donor_variant,,ENST00000427707,;ENPP3,splice_donor_variant,,ENST00000494023,;ENPP3,downstream_gene_variant,,ENST00000423831,;							HIGH	464/2628		ENPP3_HUMAN			Transcript			.	ENSP00000350265	1.65E-05	CCDS5148.1			1	
GPR125	0	LGGM	GRCh37	4	22436981	22436981	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	30	23	.	.	ENST00000334304.5:c.1396A>G	p.Met466Val	p.M466V	ENST00000334304	NM_145290.3	466	Atg/Gtg	0	1	1	UPI00001D7735	0	NA	ENST00000334304		ENSG00000152990	13839		53	1.65		HGNC	p.M240V		GPR125		SNV							ENST00000508133	protein_coding	getma.org/?cm=var&var=hg19,4,22436981,T,C&fts=all		hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35		M/V		C	low	1666/4557		getma.org/?cm=msa&ty=f&p=GP125_HUMAN&rb=418&re=617&var=M466V	deleterious(0)	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN			YES	GPR125,missense_variant,p.Met466Val,ENST00000334304,NM_145290.3;GPR125,missense_variant,p.Met466Val,ENST00000502482,;GPR125,missense_variant,p.Met240Val,ENST00000508133,;GPR125,downstream_gene_variant,,ENST00000514129,;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;							MODERATE	1396/3966	M466V	GP125_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000334952		CCDS33964.1			1	
PCDH10	0	LGGM	GRCh37	4	134084157	134084157	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	23	.	.	ENST00000264360.5:c.2823T>G	p.Thr941=	p.T941=	ENST00000264360	NM_032961.1	941	acT/acG	0	1	1	UPI0000161C61	0		ENST00000264360		ENSG00000138650	13404	8.65E-05	62			HGNC	p.T941T	rs766245596,COSM4122315	PCDH10		SNV						0,1	ENST00000264360	protein_coding					T		G		3649/8399				Q9NSR3_HUMAN			YES	PCDH10,synonymous_variant,p.=,ENST00000264360,NM_032961.1;PCDH10,non_coding_transcript_exon_variant,,ENST00000511112,;					0,1		LOW	2823/3123		PCD10_HUMAN			Transcript			.	ENSP00000264360	8.24E-06	CCDS34063.1			1	
ATP10A	0	LGGM	GRCh37	15	25924563	25924563	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	24	23	.	.	ENST00000356865.6:c.4425C>T	p.Pro1475=	p.P1475=	ENST00000356865	NM_024490.3	1475	ccC/ccT	0	1	1	UPI0000124FAB	0		ENST00000356865		ENSG00000206190	13542		47			HGNC	p.P1475P		ATP10A		SNV			1				ENST00000356865	protein_coding			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF43		P		A		4537/6680							YES	ATP10A,synonymous_variant,p.=,ENST00000356865,NM_024490.3;ATP10A,downstream_gene_variant,,ENST00000555756,;ATP10A,3_prime_UTR_variant,,ENST00000555815,;ATP10A,downstream_gene_variant,,ENST00000555450,;							LOW	4425/4500		AT10A_HUMAN			Transcript			.	ENSP00000349325		CCDS32178.1			1	
LMLN	0	LGGM	GRCh37	3	197765523	197765523	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	42	24	.	.	ENST00000420910.2:c.2064G>T	p.Leu688=	p.L688=	ENST00000420910	NM_001136049.2	688	ctG/ctT	0	1		UPI00001B0155	0		ENST00000330198		ENSG00000185621	15991		66			HGNC	p.L599L		LMLN		SNV							ENST00000332636	protein_coding			hmmpanther:PTHR10942,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L		T		1975/7043								LMLN,synonymous_variant,p.=,ENST00000330198,NM_033029.3;LMLN,synonymous_variant,p.=,ENST00000420910,NM_001136049.2;LMLN,synonymous_variant,p.=,ENST00000482695,;LMLN,synonymous_variant,p.=,ENST00000332636,;LMLN-AS1,non_coding_transcript_exon_variant,,ENST00000423460,;LMLN,non_coding_transcript_exon_variant,,ENST00000451139,;							LOW	1953/1968		LMLN_HUMAN			Transcript			.	ENSP00000328829		CCDS3332.1			1	
LRIG3	0	LGGM	GRCh37	12	59268058	59268058	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	40	24	.	.	ENST00000320743.3:c.2894T>G	p.Ile965Arg	p.I965R	ENST00000320743	NM_153377.4	965	aTa/aGa	0	1	1	UPI0000035BB5	0	NA	ENST00000320743		ENSG00000139263	30991		64	0		HGNC	p.I905R		LRIG3		SNV							ENST00000379141	protein_coding	getma.org/?cm=var&var=hg19,12,59268058,A,C&fts=all				I/R		C	neutral	3181/4070		getma.org/?cm=msa&ty=f&p=LRIG3_HUMAN&rb=808&re=1117&var=I965R	tolerated_low_confidence(0.52)	F8VYZ5_HUMAN			YES	LRIG3,missense_variant,p.Ile965Arg,ENST00000320743,NM_153377.4;LRIG3,missense_variant,p.Ile905Arg,ENST00000379141,NM_001136051.2;LRIG3,missense_variant,p.Ile67Arg,ENST00000550825,;LRIG3,3_prime_UTR_variant,,ENST00000433272,;LRIG3,non_coding_transcript_exon_variant,,ENST00000552646,;							MODERATE	2894/3360	I965R	LRIG3_HUMAN			Transcript		benign(0.078)	.	ENSP00000326759		CCDS8960.1			1	
KIAA1468	0	LGGM	GRCh37	18	59898425	59898425	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	32	25	.	.	ENST00000398130.2:c.1449-2A>G		p.X483_splice	ENST00000398130	NM_020854.3			0	1	1	UPI0000DA5AF7	0		ENST00000398130		ENSG00000134444	29289		57			HGNC	-		KIAA1468		SNV							ENST00000256858	protein_coding							G		-/5471				Q96ES0_HUMAN			YES	KIAA1468,splice_acceptor_variant,,ENST00000256858,;KIAA1468,splice_acceptor_variant,,ENST00000398130,NM_020854.3;KIAA1468,splice_acceptor_variant,,ENST00000592479,;KIAA1468,splice_acceptor_variant,,ENST00000591227,;KIAA1468,splice_acceptor_variant,,ENST00000587725,;KIAA1468,downstream_gene_variant,,ENST00000590713,;							HIGH	1449/3651		K1468_HUMAN			Transcript			.	ENSP00000381198		CCDS11979.2			1	
KRT73	0	LGGM	GRCh37	12	53002084	53002084	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	21	25	.	.	ENST00000305748.3:c.1519C>A	p.Pro507Thr	p.P507T	ENST00000305748	NM_175068.2	507	Ccc/Acc	0	1	1	UPI000000DCB8	0	NA	ENST00000305748		ENSG00000186049	28928		46	1.245		HGNC	p.P507T		KRT73		SNV							ENST00000305748	protein_coding	getma.org/?cm=var&var=hg19,12,53002084,G,T&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF122		P/T		T	low	1554/2284		getma.org/?cm=msa&ty=f&p=K2C73_HUMAN&rb=445&re=540&var=P507T	tolerated_low_confidence(0.42)				YES	KRT73,missense_variant,p.Pro507Thr,ENST00000305748,NM_175068.2;KRT73,missense_variant,p.Pro252Thr,ENST00000552855,;RP11-641A6.2,intron_variant,,ENST00000551089,;RP11-641A6.2,upstream_gene_variant,,ENST00000552364,;RP11-641A6.2,upstream_gene_variant,,ENST00000549180,;KRT73,non_coding_transcript_exon_variant,,ENST00000546934,;							MODERATE	1519/1623	P507T	K2C73_HUMAN			Transcript		benign(0.045)	.	ENSP00000307014		CCDS8834.1			1	
CCDC171	0	LGGM	GRCh37	9	15729742	15729742	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	38	25	.	.	ENST00000380701.3:c.1995G>T	p.Lys665Asn	p.K665N	ENST00000380701	NM_173550.2	665	aaG/aaT	0	1	1	UPI000021C44B	0	NA	ENST00000380701		ENSG00000164989	29828		63	0.805		HGNC	p.K665N		CCDC171		SNV							ENST00000297641	protein_coding	getma.org/?cm=var&var=hg19,9,15729742,G,T&fts=all				K/N		T	low	2323/6512		getma.org/?cm=msa&ty=f&p=CC171_HUMAN&rb=601&re=800&var=K665N	tolerated(0.06)	Q8NCV3_HUMAN			YES	CCDC171,missense_variant,p.Lys665Asn,ENST00000380701,NM_173550.2;CCDC171,missense_variant,p.Lys665Asn,ENST00000297641,;							MODERATE	1995/3981	K665N	CC171_HUMAN			Transcript		possibly_damaging(0.619)	.	ENSP00000370077		CCDS6481.1			1	
PBX1	0	LGGM	GRCh37	1	164768978	164768978	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	73	25	.	.	ENST00000420696.2:c.553G>T	p.Glu185Ter	p.E185*	ENST00000420696	NM_002585.3	185	Gag/Tag	0	1	1	UPI00000213E1	0	NA	ENST00000420696		ENSG00000185630	8632		98	0		HGNC	p.E185X		PBX1		SNV			1				ENST00000559240	protein_coding	getma.org/?cm=var&var=hg19,1,164768978,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03792,hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58		E/*		T	NA	741/6636		NA		Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN			YES	PBX1,stop_gained,p.Glu185Ter,ENST00000420696,NM_002585.3,NM_001204963.1,NM_001204961.1;PBX1,stop_gained,p.Glu80Ter,ENST00000560641,;PBX1,stop_gained,p.Glu185Ter,ENST00000367897,;PBX1,stop_gained,p.Glu80Ter,ENST00000540246,;PBX1,stop_gained,p.Glu185Ter,ENST00000540236,;PBX1,stop_gained,p.Glu185Ter,ENST00000401534,;PBX1,stop_gained,p.Glu185Ter,ENST00000559240,;PBX1,stop_gained,p.Glu113Ter,ENST00000559578,;PBX1,stop_gained,p.Glu80Ter,ENST00000558837,;PBX1,stop_gained,p.Glu80Ter,ENST00000482110,;PBX1,stop_gained,p.Glu80Ter,ENST00000559560,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;							HIGH	553/1293	E185*	PBX1_HUMAN			Transcript			.	ENSP00000405890		CCDS1246.1			1	
CSNK1A1	0	LGGM	GRCh37	5	148886603	148886603	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	42	25	.	.	ENST00000515768.1:c.928C>T	p.Arg310Cys	p.R310C	ENST00000515768		310	Cgc/Tgc	0	1		UPI000000412B	0	getma.org/pdb.php?prot=KC1A_HUMAN&from=17&to=292&var=R282C	ENST00000377843		ENSG00000113712	2451		67	3.905		HGNC	p.R282C		CSNK1A1		SNV							ENST00000322237	protein_coding	getma.org/?cm=var&var=hg19,5,148886603,G,A&fts=all		Gene3D:1.10.510.10,PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF84,SMART_domains:SM00220,Superfamily_domains:SSF56112		R/C		A	high	1324/3065		getma.org/?cm=msa&ty=f&p=KC1A_HUMAN&rb=17&re=292&var=R282C	deleterious_low_confidence(0.02)	U3KQ83_HUMAN,U3KPX3_HUMAN,B4E1D9_HUMAN				CSNK1A1,missense_variant,p.Arg282Cys,ENST00000261798,;CSNK1A1,missense_variant,p.Arg282Cys,ENST00000377843,NM_001271741.1,NM_001892.5,NM_001025105.2;CSNK1A1,missense_variant,p.Arg221Cys,ENST00000515435,NM_001271742.1;CSNK1A1,missense_variant,p.Arg193Cys,ENST00000504676,;CSNK1A1,missense_variant,p.Arg113Cys,ENST00000503350,;CSNK1A1,missense_variant,p.Arg310Cys,ENST00000515768,;CSNK1A1,missense_variant,p.Arg42Cys,ENST00000606299,;CSNK1A1,missense_variant,p.Arg79Cys,ENST00000606719,;CSNK1A1,missense_variant,p.Arg101Cys,ENST00000606826,;CTB-89H12.4,upstream_gene_variant,,ENST00000499521,;							MODERATE	844/1014	R282C	KC1A_HUMAN			Transcript		benign(0.059)	.	ENSP00000367074		CCDS47303.1			1	
CEBPZ	0	LGGM	GRCh37	2	37455604	37455604	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	45	26	.	.	ENST00000234170.5:c.732A>G	p.Leu244=	p.L244=	ENST00000234170	NM_005760.2	244	ctA/ctG	0	1	1	UPI0000072AAB	0		ENST00000234170		ENSG00000115816	24218		71			HGNC	p.L244L		CEBPZ		SNV							ENST00000234170	protein_coding			hmmpanther:PTHR12048		L		C		878/3463							YES	CEBPZ,synonymous_variant,p.=,ENST00000234170,NM_005760.2;NDUFAF7,upstream_gene_variant,,ENST00000002125,NM_144736.4;NDUFAF7,upstream_gene_variant,,ENST00000336237,NM_001083946.1;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;CEBPZ,downstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;							LOW	732/3165		CEBPZ_HUMAN			Transcript			.	ENSP00000234170		CCDS1787.1			1	
DSG2	0	LGGM	GRCh37	18	29102143	29102143	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	26	26	.	.	ENST00000261590.8:c.621T>A	p.Tyr207Ter	p.Y207*	ENST00000261590	NM_001943.3	207	taT/taA	0	1	1	UPI0000048E38	0	NA	ENST00000261590		ENSG00000046604	3049		52	0		HGNC	p.Y207X		DSG2		SNV			1				ENST00000261590	protein_coding	getma.org/?cm=var&var=hg19,18,29102143,T,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF1,Pfam_domain:PF00028,Gene3D:2.60.40.60,SMART_domains:SM00112,Superfamily_domains:SSF49313		Y/*		A	NA	830/5831		NA					YES	DSG2,stop_gained,p.Tyr207Ter,ENST00000261590,NM_001943.3;DSG2,stop_gained,p.Tyr207Ter,ENST00000585206,;							HIGH	621/3357	Y207*	DSG2_HUMAN			Transcript			.	ENSP00000261590		CCDS42423.1			1	
PCLO	0	LGGM	GRCh37	7	82430905	82430905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	106	26	.	.	ENST00000333891.9:c.14936G>A	p.Gly4979Glu	p.G4979E	ENST00000333891	NM_033026.5	4979	gGg/gAg	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		132	0.975		HGNC	p.G4979E	COSM3640938,COSM3640939	PCLO		SNV			1			1,1	ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82430905,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		G/E		T	low	15274/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=4870&re=4948&var=G4902E					YES	PCLO,missense_variant,p.Gly4979Glu,ENST00000333891,NM_033026.5;PCLO,splice_region_variant,,ENST00000432078,;					1,1		MODERATE	14936/15429	G4902E	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
AKAP12	0	LGGM	GRCh37	6	151670850	151670850	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	35	26	.	.	ENST00000402676.2:c.1324G>C	p.Val442Leu	p.V442L	ENST00000402676	NM_005100.3	442	Gtg/Ctg	0	1		UPI000013CDC7	0	NA	ENST00000253332		ENSG00000131016	370		61	-2.015		HGNC	p.V337L		AKAP12		SNV							ENST00000359755	protein_coding	getma.org/?cm=var&var=hg19,6,151670850,G,C&fts=all		hmmpanther:PTHR23209		V/L		C	neutral	1513/6597		getma.org/?cm=msa&ty=f&p=AKA12_HUMAN&rb=401&re=600&var=V442L	tolerated(1)					AKAP12,missense_variant,p.Val442Leu,ENST00000402676,NM_005100.3;AKAP12,missense_variant,p.Val442Leu,ENST00000253332,;AKAP12,missense_variant,p.Val344Leu,ENST00000354675,NM_144497.2;AKAP12,missense_variant,p.Val337Leu,ENST00000359755,;snoU13,upstream_gene_variant,,ENST00000458767,;AKAP12,downstream_gene_variant,,ENST00000490177,;							MODERATE	1324/5349	V442L	AKA12_HUMAN			Transcript		benign(0)	.	ENSP00000253332		CCDS5229.1			1	
ZDHHC18	0	LGGM	GRCh37	1	27175134	27175134	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	32	26	.	.	ENST00000374142.4:c.532C>T	p.Arg178Trp	p.R178W	ENST00000374142	NM_032283.2	178	Cgg/Tgg	0	1	1	UPI00001C0437	0	NA	ENST00000374142		ENSG00000204160	20712		58	3.675		HGNC	p.R43W		ZDHHC18		SNV							ENST00000374141	protein_coding	getma.org/?cm=var&var=hg19,1,27175134,C,T&fts=all		Pfam_domain:PF01529,hmmpanther:PTHR22883,hmmpanther:PTHR22883:SF37		R/W		T	high	627/5020		getma.org/?cm=msa&ty=f&p=ZDH18_HUMAN&rb=136&re=316&var=R178W	deleterious(0)	E9PJS3_HUMAN,B4DQ84_HUMAN			YES	ZDHHC18,missense_variant,p.Arg178Trp,ENST00000374142,NM_032283.2;ZDHHC18,missense_variant,p.Arg43Trp,ENST00000374141,;ZDHHC18,missense_variant,p.Arg43Trp,ENST00000534643,;ZDHHC18,upstream_gene_variant,,ENST00000488397,;ZDHHC18,upstream_gene_variant,,ENST00000478902,;							MODERATE	532/1167	R178W	ZDH18_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363257		CCDS30650.1			1	
MEGF11	0	LGGM	GRCh37	15	66190404	66190404	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	36	27	.	.	ENST00000409699.2:c.3003T>C	p.Gly1001=	p.G1001=	ENST00000409699		1001	ggT/ggC	0	1	1	UPI00001FE6DA	0		ENST00000409699		ENSG00000157890	29635	9.11E-05	63			HGNC	p.G1001G	rs765559166	MEGF11		SNV							ENST00000409699	protein_coding					G		G		3176/6163	1.54E-05			C9JYE7_HUMAN			YES	MEGF11,synonymous_variant,p.=,ENST00000409699,;MEGF11,synonymous_variant,p.=,ENST00000422354,NM_032445.2;MEGF11,synonymous_variant,p.=,ENST00000395625,;MEGF11,synonymous_variant,p.=,ENST00000288745,;MEGF11,3_prime_UTR_variant,,ENST00000360698,;MEGF11,downstream_gene_variant,,ENST00000478721,;MEGF11,downstream_gene_variant,,ENST00000489275,;MEGF11,downstream_gene_variant,,ENST00000490495,;							LOW	3003/3135		MEG11_HUMAN			Transcript			.	ENSP00000386908	1.65E-05	CCDS10213.2			1	
SCN4A	0	LGGM	GRCh37	17	62034837	62034837	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	32	27	.	.	ENST00000435607.1:c.2061C>T	p.Asn687=	p.N687=	ENST00000435607	NM_000334.4	687	aaC/aaT	0	1	1	UPI0000201254	0		ENST00000435607		ENSG00000007314	10591		59			HGNC	p.N687N		SCN4A		SNV			1				ENST00000435607	protein_coding			hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Superfamily_domains:SSF81324		N		A		2138/7805				Q9H3L9_HUMAN			YES	SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;SCN4A,synonymous_variant,p.=,ENST00000578147,;SCN4A,downstream_gene_variant,,ENST00000581514,;							LOW	2061/5511		SCN4A_HUMAN			Transcript			.	ENSP00000396320		CCDS45761.1			1	
TUBB6	0	LGGM	GRCh37	18	12325743	12325743	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	28	.	.	ENST00000317702.5:c.955G>A	p.Gly319Arg	p.G319R	ENST00000317702		319	Ggg/Agg	0	1	1	UPI0000072BFF	0	getma.org/pdb.php?prot=TBB6_HUMAN&from=261&to=383&var=G319R	ENST00000317702		ENSG00000176014	20776		67	4.64		HGNC	p.G319R		TUBB6		SNV							ENST00000317702	protein_coding	getma.org/?cm=var&var=hg19,18,12325743,G,A&fts=all		Prints_domain:PR01163,Superfamily_domains:SSF55307,SMART_domains:SM00865,Pfam_domain:PF03953,Gene3D:3.30.1330.20,hmmpanther:PTHR11588:SF88,hmmpanther:PTHR11588		G/R		A	high	1189/2064		getma.org/?cm=msa&ty=f&p=TBB6_HUMAN&rb=261&re=383&var=G319R	deleterious_low_confidence(0)	K7ES63_HUMAN,K7EL29_HUMAN,B4E386_HUMAN,B3KS31_HUMAN			YES	TUBB6,missense_variant,p.Gly319Arg,ENST00000317702,;TUBB6,missense_variant,p.Gly282Arg,ENST00000590103,;TUBB6,3_prime_UTR_variant,,ENST00000591208,NM_032525.1;TUBB6,intron_variant,,ENST00000591909,;TUBB6,intron_variant,,ENST00000590967,;TUBB6,intron_variant,,ENST00000586691,;AFG3L2,downstream_gene_variant,,ENST00000269143,NM_006796.2;TUBB6,downstream_gene_variant,,ENST00000586653,;TUBB6,downstream_gene_variant,,ENST00000590693,;TUBB6,downstream_gene_variant,,ENST00000591463,;TUBB6,downstream_gene_variant,,ENST00000592683,;TUBB6,3_prime_UTR_variant,,ENST00000586810,;TUBB6,non_coding_transcript_exon_variant,,ENST00000417736,;TUBB6,downstream_gene_variant,,ENST00000590388,;							MODERATE	955/1341	G319R	TBB6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318697		CCDS11858.1			1	
VEPH1	0	LGGM	GRCh37	3	156983378	156983378	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	33	28	.	.	ENST00000362010.2:c.2202A>C	p.Lys734Asn	p.K734N	ENST00000362010	NM_001167912.1	734	aaA/aaC	0	1	1	UPI000013F6EE	0	getma.org/pdb.php?prot=MELT_HUMAN&from=717&to=819&var=K734N	ENST00000362010		ENSG00000197415	25735		61	3.12		HGNC	p.K734N		VEPH1		SNV							ENST00000392832	protein_coding	getma.org/?cm=var&var=hg19,3,156983378,T,G&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR21630,hmmpanther:PTHR21630:SF9,Gene3D:2.30.29.30,Pfam_domain:PF00169,SMART_domains:SM00233,Superfamily_domains:SSF50729		K/N		G	medium	2510/4202		getma.org/?cm=msa&ty=f&p=MELT_HUMAN&rb=717&re=819&var=K734N	deleterious(0)	C9JRT0_HUMAN,C9J4U8_HUMAN,C9J379_HUMAN,C9IZY4_HUMAN			YES	VEPH1,missense_variant,p.Lys734Asn,ENST00000362010,NM_001167912.1;VEPH1,missense_variant,p.Lys689Asn,ENST00000543418,NM_024621.2;VEPH1,missense_variant,p.Lys689Asn,ENST00000392833,NM_001167911.1;VEPH1,missense_variant,p.Lys734Asn,ENST00000392832,;RP11-550I24.2,intron_variant,,ENST00000488040,;RP11-550I24.2,intron_variant,,ENST00000487238,;RP11-550I24.2,intron_variant,,ENST00000475102,;							MODERATE	2202/2502	K734N	MELT_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000354919		CCDS3179.1			1	
DCHS1	0	LGGM	GRCh37	11	6653572	6653572	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	30	28	.	.	ENST00000299441.3:c.3171G>A	p.Arg1057=	p.R1057=	ENST00000299441	NM_003737.2	1057	cgG/cgA	0	1	1	UPI00001313B6	0		ENST00000299441		ENSG00000166341	13681		58			HGNC	p.R1057R		DCHS1		SNV			1				ENST00000299441	protein_coding			Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		R		T		3583/10763							YES	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.2;RP11-732A19.6,intron_variant,,ENST00000526633,;							LOW	3171/9897		PCD16_HUMAN			Transcript			.	ENSP00000299441		CCDS7771.1			1	
ING3	0	LGGM	GRCh37	7	120595620	120595620	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	14	28	.	.	ENST00000315870.5:c.209A>G	p.Tyr70Cys	p.Y70C	ENST00000315870	NM_019071.2	70	tAt/tGt	0	1	1	UPI00000373B3	0	getma.org/pdb.php?prot=ING3_HUMAN&from=2&to=104&var=Y70C	ENST00000315870		ENSG00000071243	14587		42	2.24		HGNC	p.Y70C	rs769542101,COSM3995306	ING3		SNV			1			0,1	ENST00000315870	protein_coding	getma.org/?cm=var&var=hg19,7,120595620,A,G&fts=all		hmmpanther:PTHR10333,Pfam_domain:PF12998		Y/C		G	medium	357/3777	4.74E-05	getma.org/?cm=msa&ty=f&p=ING3_HUMAN&rb=2&re=104&var=Y70C	deleterious(0.01)	E7ET07_HUMAN			YES	ING3,missense_variant,p.Tyr70Cys,ENST00000315870,NM_019071.2;ING3,missense_variant,p.Tyr70Cys,ENST00000445699,;ING3,missense_variant,p.Tyr55Cys,ENST00000431467,;ING3,missense_variant,p.Tyr70Cys,ENST00000339121,NM_198267.1;ING3,missense_variant,p.Tyr70Cys,ENST00000427726,;					0,1		MODERATE	209/1257	Y70C	ING3_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000320566	2.47E-05	CCDS5778.1			1	
SLC39A6	0	LGGM	GRCh37	18	33706780	33706780	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	45	29	.	.	ENST00000269187.5:c.191A>G	p.Tyr64Cys	p.Y64C	ENST00000269187	NM_012319.3	64	tAt/tGt	0	1	1	UPI000004EC93	0	NA	ENST00000269187		ENSG00000141424	18607		74	1.905		HGNC	p.Y64C		SLC39A6		SNV							ENST00000590986	protein_coding	getma.org/?cm=var&var=hg19,18,33706780,T,C&fts=all		hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF8		Y/C		C	medium	405/3543		getma.org/?cm=msa&ty=f&p=S39A6_HUMAN&rb=1&re=200&var=Y64C	deleterious(0)	K7EQ91_HUMAN			YES	SLC39A6,missense_variant,p.Tyr64Cys,ENST00000269187,NM_012319.3;SLC39A6,missense_variant,p.Tyr64Cys,ENST00000590986,;SLC39A6,intron_variant,,ENST00000440549,NM_001099406.1;ELP2,upstream_gene_variant,,ENST00000358232,NM_018255.2;ELP2,upstream_gene_variant,,ENST00000442325,NM_001242875.1;ELP2,upstream_gene_variant,,ENST00000350494,NM_001242876.1;ELP2,upstream_gene_variant,,ENST00000351393,NM_001242877.1;ELP2,upstream_gene_variant,,ENST00000423854,NM_001242879.1;ELP2,upstream_gene_variant,,ENST00000542824,NM_001242878.1;SLC39A6,upstream_gene_variant,,ENST00000586829,;ELP2,upstream_gene_variant,,ENST00000543127,;ELP2,upstream_gene_variant,,ENST00000540135,;ELP2,upstream_gene_variant,,ENST00000539560,;ELP2,upstream_gene_variant,,ENST00000535488,;ELP2,upstream_gene_variant,,ENST00000542430,;ELP2,upstream_gene_variant,,ENST00000541190,;ELP2,upstream_gene_variant,,ENST00000545632,;ELP2,upstream_gene_variant,,ENST00000544267,;ELP2,upstream_gene_variant,,ENST00000540799,;							MODERATE	191/2268	Y64C	S39A6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000269187		CCDS42428.1			1	
DNAH8	0	LGGM	GRCh37	6	38810579	38810579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	38	30	.	.	ENST00000359357.3:c.4094T>C	p.Ile1365Thr	p.I1365T	ENST00000359357		1365	aTc/aCc	0	1	1	UPI00003677EB	0	getma.org/pdb.php?prot=DYH8_HUMAN&from=1266&to=1678&var=I1365T	ENST00000359357		ENSG00000124721	2952		68	3.845		HGNC	p.I1365T		DNAH8		SNV							ENST00000441566	protein_coding	getma.org/?cm=var&var=hg19,6,38810579,T,C&fts=all		Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF229		I/T		C	high	4348/13860		getma.org/?cm=msa&ty=f&p=DYH8_HUMAN&rb=1266&re=1678&var=I1365T					YES	DNAH8,missense_variant,p.Ile1570Thr,ENST00000327475,NM_001206927.1;DNAH8,missense_variant,p.Ile1365Thr,ENST00000359357,;DNAH8,missense_variant,p.Ile1365Thr,ENST00000441566,;DNAH8,missense_variant,p.Ile1582Thr,ENST00000449981,;							MODERATE	4094/13473	I1365T	DYH8_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000352312					1	
MOGAT3	0	LGGM	GRCh37	7	100843704	100843704	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	23	30	.	.	ENST00000223114.4:c.202G>A	p.Asp68Asn	p.D68N	ENST00000223114	NM_178176.2	68	Gac/Aac	0	1	1	UPI00000622D1	0	NA	ENST00000223114		ENSG00000106384	23249		53	0.505		HGNC	p.D68N		MOGAT3		SNV							ENST00000223114	protein_coding	getma.org/?cm=var&var=hg19,7,100843704,C,T&fts=all		Pfam_domain:PF03982,hmmpanther:PTHR12317,hmmpanther:PTHR12317:SF13		D/N		T	neutral	369/2132		getma.org/?cm=msa&ty=f&p=MOGT3_HUMAN&rb=45&re=341&var=D68N	tolerated(0.48)				YES	MOGAT3,missense_variant,p.Asp68Asn,ENST00000223114,NM_178176.2;MOGAT3,missense_variant,p.Asp68Asn,ENST00000440203,;MOGAT3,missense_variant,p.Asp68Asn,ENST00000379423,NM_001287147.1;RP4-747G18.5,downstream_gene_variant,,ENST00000428316,;DGAT2L7P,downstream_gene_variant,,ENST00000602462,;DGAT2L7P,downstream_gene_variant,,ENST00000379421,;							MODERATE	202/1026	D68N	MOGT3_HUMAN			Transcript		benign(0.075)	.	ENSP00000223114		CCDS5714.1			1	
FBXW2	0	LGGM	GRCh37	9	123550178	123550178	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	33	30	.	.	ENST00000608872.1:c.359A>T	p.Lys120Met	p.K120M	ENST00000608872	NM_012164.3	120	aAg/aTg	0	1	1	UPI000006FE3A	0	NA	ENST00000608872		ENSG00000119402	13608		63	0.805		HGNC	p.K120M		FBXW2		SNV							ENST00000373926	protein_coding	getma.org/?cm=var&var=hg19,9,123550178,T,A&fts=all		Gene3D:1.20.1280.50,hmmpanther:PTHR22837,hmmpanther:PTHR22837:SF2,Superfamily_domains:SSF81383		K/M		A	low	547/9138		getma.org/?cm=msa&ty=f&p=FBXW2_HUMAN&rb=95&re=139&var=K120M	deleterious(0.01)	Q4VXH1_HUMAN,B4DT60_HUMAN			YES	FBXW2,missense_variant,p.Lys120Met,ENST00000608872,NM_012164.3;FBXW2,missense_variant,p.Lys120Met,ENST00000340778,;FBXW2,5_prime_UTR_variant,,ENST00000453291,;FBXW2,non_coding_transcript_exon_variant,,ENST00000474117,;FBXW2,downstream_gene_variant,,ENST00000476481,;							MODERATE	359/1365	K120M				Transcript		probably_damaging(0.981)	.	ENSP00000476369		CCDS43872.1			1	
AKR1D1	0	LGGM	GRCh37	7	137790137	137790137	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	100	31	.	.	ENST00000242375.3:c.541A>G	p.Asn181Asp	p.N181D	ENST00000242375	NM_005989.3	181	Aac/Gac	0	1	1	UPI0000125764	0	getma.org/pdb.php?prot=AK1D1_HUMAN&from=20&to=304&var=N181D	ENST00000242375		ENSG00000122787	388		131	0.21		HGNC	p.N181D		AKR1D1		SNV			1				ENST00000242375	protein_coding	getma.org/?cm=var&var=hg19,7,137790137,A,G&fts=all		hmmpanther:PTHR11732:SF140,hmmpanther:PTHR11732,Pfam_domain:PF00248,Gene3D:3.20.20.100,PIRSF_domain:PIRSF000097,Superfamily_domains:SSF51430		N/D		G	neutral	583/2347		getma.org/?cm=msa&ty=f&p=AK1D1_HUMAN&rb=20&re=304&var=N181D	deleterious(0.01)	C4PL35_HUMAN			YES	AKR1D1,missense_variant,p.Asn181Asp,ENST00000242375,NM_005989.3;AKR1D1,missense_variant,p.Asn181Asp,ENST00000432161,NM_001190907.1;AKR1D1,intron_variant,,ENST00000411726,NM_001190906.1;AKR1D1,non_coding_transcript_exon_variant,,ENST00000468877,;							MODERATE	541/981	N181D	AK1D1_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000242375		CCDS5846.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43826237	43826237	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	50	32	.	.	ENST00000389420.3:c.2966G>A	p.Arg989Gln	p.R989Q	ENST00000389420	NM_025003.3	989	cGa/cAa	0	1	1	UPI00004565F4	0	NA	ENST00000389420		ENSG00000173157	17178		82	2.83		HGNC	p.R155Q	rs767096383,COSM1705448,COSM1705449,COSM3460751	ADAMTS20		SNV						0,1,1,1	ENST00000549670	protein_coding	getma.org/?cm=var&var=hg19,12,43826237,C,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		R/Q		T	medium	2966/6076		getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=970&re=1022&var=R989Q	deleterious(0)				YES	ADAMTS20,missense_variant,p.Arg989Gln,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Arg989Gln,ENST00000553158,;ADAMTS20,missense_variant,p.Arg143Gln,ENST00000395541,;ADAMTS20,missense_variant,p.Arg155Gln,ENST00000549670,;	0.000116				0,1,1,1		MODERATE	2966/5733	R989Q	ATS20_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374071	8.24E-06	CCDS31778.2			1	
GTF2IRD1	0	LGGM	GRCh37	7	74015478	74015478	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	54	32	.	.	ENST00000455841.2:c.2833G>A	p.Val945Met	p.V945M	ENST00000455841	NM_001199207.1	945	Gtg/Atg	0	1		UPI000012AE30	0	NA	ENST00000265755		ENSG00000006704	4661		86	1.1		HGNC	p.V928M		GTF2IRD1		SNV			1				ENST00000265755	protein_coding	getma.org/?cm=var&var=hg19,7,74015478,G,A&fts=all		PIRSF_domain:PIRSF016441		V/M		A	low	3175/3430		getma.org/?cm=msa&ty=f&p=GT2D1_HUMAN&rb=878&re=959&var=V928M	tolerated_low_confidence(0.24)	Q75MX6_HUMAN				GTF2IRD1,missense_variant,p.Val913Met,ENST00000476977,;GTF2IRD1,missense_variant,p.Val928Met,ENST00000265755,NM_005685.3,NM_016328.2;GTF2IRD1,missense_variant,p.Val945Met,ENST00000455841,NM_001199207.1;GTF2IRD1,missense_variant,p.Val913Met,ENST00000424337,;GTF2IRD1,downstream_gene_variant,,ENST00000470715,;GTF2IRD1,non_coding_transcript_exon_variant,,ENST00000486086,;							MODERATE	2782/2880	V928M	GT2D1_HUMAN			Transcript		benign(0.011)	.	ENSP00000265755		CCDS5571.1			1	
ABCA9	0	LGGM	GRCh37	17	66981106	66981106	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	28	32	.	.	ENST00000340001.4:c.4299G>T	p.Leu1433=	p.L1433=	ENST00000340001	NM_080283.3	1433	ctG/ctT	0	1	1	UPI00000747B1	0		ENST00000340001		ENSG00000154258	39		60			HGNC	p.L1433L		ABCA9		SNV							ENST00000340001	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229,PROSITE_profiles:PS50893		L		A		4511/6514				K7EJJ0_HUMAN			YES	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,;							LOW	4299/4875		ABCA9_HUMAN			Transcript			.	ENSP00000342216		CCDS11681.1			1	
UBE3A	0	LGGM	GRCh37	15	25616201	25616201	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	48	33	.	.	ENST00000397954.2:c.1129A>G	p.Met377Val	p.M377V	ENST00000397954		377	Atg/Gtg	0	1	1	UPI0000161F3B	0	NA	ENST00000397954		ENSG00000114062	12496		81	-1.15		HGNC	p.M354V		UBE3A		SNV			1				ENST00000566215	protein_coding	getma.org/?cm=var&var=hg19,15,25616201,T,C&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF301,PIRSF_domain:PIRSF037201		M/V		C	neutral	1129/2628		getma.org/?cm=msa&ty=f&p=UBE3A_HUMAN&rb=11&re=495&var=M377V	tolerated(0.29)	Q9UBN9_HUMAN,Q9H2G0_HUMAN,Q96GR7_HUMAN			YES	UBE3A,missense_variant,p.Met374Val,ENST00000232165,NM_130839.2,NM_000462.3;UBE3A,missense_variant,p.Met354Val,ENST00000438097,NM_130838.1;UBE3A,missense_variant,p.Met354Val,ENST00000566215,;UBE3A,missense_variant,p.Met354Val,ENST00000428984,;UBE3A,missense_variant,p.Met377Val,ENST00000397954,;SNHG14,intron_variant,,ENST00000554726,;							MODERATE	1129/2628	M377V	UBE3A_HUMAN			Transcript		benign(0)	.	ENSP00000381045		CCDS45192.1			1	
MUC16	0	LGGM	GRCh37	19	9070391	9070391	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	52	33	.	.	ENST00000397910.4:c.17055T>C	p.Ser5685=	p.S5685=	ENST00000397910	NM_024690.2	5685	agT/agC	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		85			HGNC	p.S5685S		MUC16		SNV							ENST00000397910	protein_coding			Low_complexity_(Seg):seg		S		G		17259/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	17055/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
HEPHL1	0	LGGM	GRCh37	11	93836103	93836103	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	39	33	.	.	ENST00000315765.9:c.2599A>G	p.Asn867Asp	p.N867D	ENST00000315765	NM_001098672.1	867	Aat/Gat	0	1	1	UPI0000237563	0	getma.org/pdb.php?prot=HPHL1_HUMAN&from=807&to=909&var=N867D	ENST00000315765		ENSG00000181333	30477		72	1.25		HGNC	p.N867D		HEPHL1		SNV							ENST00000315765	protein_coding	getma.org/?cm=var&var=hg19,11,93836103,A,G&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF615,Pfam_domain:PF07732,Gene3D:2.60.40.420,Superfamily_domains:SSF49503		N/D		G	low	2607/5345		getma.org/?cm=msa&ty=f&p=HPHL1_HUMAN&rb=807&re=909&var=N867D	tolerated(0.65)				YES	HEPHL1,missense_variant,p.Asn867Asp,ENST00000315765,NM_001098672.1;							MODERATE	2599/3480	N867D	HPHL1_HUMAN			Transcript		benign(0.008)	.	ENSP00000313699		CCDS44710.1			1	
FAR1	0	LGGM	GRCh37	11	13722001	13722001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	42	35	.	.	ENST00000354817.3:c.327C>A	p.Phe109Leu	p.F109L	ENST00000354817	NM_032228.5	109	ttC/ttA	0	1	1	UPI00000477EF	0	getma.org/pdb.php?prot=FACR1_HUMAN&from=15&to=285&var=F109L	ENST00000354817		ENSG00000197601	26222		77	1.7		HGNC	p.F109L		FAR1		SNV			1				ENST00000354817	protein_coding	getma.org/?cm=var&var=hg19,11,13722001,C,A&fts=all		hmmpanther:PTHR11011,Gene3D:3.40.50.720,Pfam_domain:PF07993,Superfamily_domains:SSF51735		F/L		A	low	471/5264		getma.org/?cm=msa&ty=f&p=FACR1_HUMAN&rb=15&re=285&var=F109L	deleterious(0)	E9PPB8_HUMAN			YES	FAR1,missense_variant,p.Phe109Leu,ENST00000354817,NM_032228.5;FAR1,missense_variant,p.Phe109Leu,ENST00000532701,;FAR1,non_coding_transcript_exon_variant,,ENST00000524933,;FAR1,non_coding_transcript_exon_variant,,ENST00000532769,;							MODERATE	327/1548	F109L	FACR1_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000346874		CCDS7813.1			1	
ERLIN1	0	LGGM	GRCh37	10	101935819	101935819	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	10	35	.	.	ENST00000421367.2:c.313A>G	p.Ile105Val	p.I105V	ENST00000421367	NM_006459.3	105	Atc/Gtc	0	1		UPI0000155AF8	0	NA	ENST00000407654		ENSG00000107566	16947		45	1.89		HGNC	p.I105V		ERLIN1		SNV			1				ENST00000407654	protein_coding	getma.org/?cm=var&var=hg19,10,101935819,T,C&fts=all		Superfamily_domains:0050593,Pfam_domain:PF01145,hmmpanther:PTHR15351,hmmpanther:PTHR15351:SF2,SMART_domains:SM00244		I/V		C	low	396/1453		getma.org/?cm=msa&ty=f&p=ERLN1_HUMAN&rb=24&re=215&var=I103V	tolerated(0.34)	D3DR65_HUMAN,B0QZ43_HUMAN				ERLIN1,missense_variant,p.Ile105Val,ENST00000421367,NM_006459.3,NM_001100626.1;ERLIN1,missense_variant,p.Ile105Val,ENST00000407654,;ERLIN1,missense_variant,p.Ile105Val,ENST00000370408,;							MODERATE	313/1047	I103V	ERLN1_HUMAN			Transcript		benign(0.06)	.	ENSP00000384900		CCDS7487.2			1	
TTN	0	LGGM	GRCh37	2	179665222	179665222	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	40	35	.	.	ENST00000589042.1:c.483A>T	p.Leu161Phe	p.L161F	ENST00000589042	NM_001267550.1	161	ttA/ttT	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=104&to=193&var=L161F	ENST00000591111		ENSG00000155657	12403		75	3.27		HGNC	p.L161F		TTN		SNV			1				ENST00000359218	protein_coding	getma.org/?cm=var&var=hg19,2,179665222,T,A&fts=all		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		L/F		A	medium	708/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=104&re=193&var=L161F		C9JQJ2_HUMAN				TTN,missense_variant,p.Leu161Phe,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Leu161Phe,ENST00000591111,;TTN,missense_variant,p.Leu161Phe,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Leu161Phe,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Leu161Phe,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Leu161Phe,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Leu161Phe,ENST00000360870,NM_133379.4;TTN,downstream_gene_variant,,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;							MODERATE	483/103053	L161F	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
DHX30	0	LGGM	GRCh37	3	47859537	47859537	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	68	35	.	.	ENST00000445061.1:c.54G>T	p.Gln18His	p.Q18H	ENST00000445061	NM_138615.2	18	caG/caT	0	1	1	UPI000007112B	0	NA	ENST00000445061		ENSG00000132153	16716		103	-0.69		HGNC	p.Q18H		DHX30		SNV							ENST00000395745	protein_coding	getma.org/?cm=var&var=hg19,3,47859537,G,T&fts=all		hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934		Q/H		T	neutral	461/4065		getma.org/?cm=msa&ty=f&p=DHX30_HUMAN&rb=1&re=200&var=Q18H	deleterious_low_confidence(0)	H7BXY3_HUMAN			YES	DHX30,missense_variant,p.Gln18His,ENST00000445061,NM_138615.2;DHX30,5_prime_UTR_variant,,ENST00000446256,NM_014966.3;DHX30,5_prime_UTR_variant,,ENST00000348968,;DHX30,non_coding_transcript_exon_variant,,ENST00000476446,;DHX30,non_coding_transcript_exon_variant,,ENST00000492893,;DHX30,missense_variant,p.Gln18His,ENST00000395745,;DHX30,missense_variant,p.Gln18His,ENST00000441384,;DHX30,missense_variant,p.Gln18His,ENST00000415400,;DHX30,downstream_gene_variant,,ENST00000472718,;							MODERATE	54/3585	Q18H	DHX30_HUMAN			Transcript		benign(0.113)	.	ENSP00000405620		CCDS2759.1			1	
CCDC121	0	LGGM	GRCh37	2	27850227	27850227	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	36	36	.	.	ENST00000394775.3:c.926T>A	p.Leu309His	p.L309H	ENST00000394775	NM_001142683.2	309	cTc/cAc	0	1		UPI00001C0AF5	0	NA	ENST00000324364		ENSG00000176714	25833		72	2.085		HGNC	p.L309H		CCDC121		SNV							ENST00000394775	protein_coding	getma.org/?cm=var&var=hg19,2,27850227,A,T&fts=all		Pfam_domain:PF14988,hmmpanther:PTHR14845,hmmpanther:PTHR14845:SF1,Low_complexity_(Seg):seg		L/H		T	medium	621/2342		getma.org/?cm=msa&ty=f&p=CC121_HUMAN&rb=1&re=276&var=L147H	deleterious(0)					CCDC121,missense_variant,p.Leu147His,ENST00000324364,NM_024584.4;CCDC121,missense_variant,p.Leu309His,ENST00000394775,NM_001142683.2;ZNF512,intron_variant,,ENST00000556601,;ZNF512,downstream_gene_variant,,ENST00000355467,NM_001271289.1,NM_001271288.1,NM_001271287.1,NM_032434.3,NM_001271318.1;ZNF512,downstream_gene_variant,,ENST00000379717,;GPN1,upstream_gene_variant,,ENST00000264718,;GPN1,upstream_gene_variant,,ENST00000610189,NM_007266.3;GPN1,upstream_gene_variant,,ENST00000424214,NM_001145048.1;GPN1,upstream_gene_variant,,ENST00000515877,;GPN1,upstream_gene_variant,,ENST00000458167,NM_001145049.1;GPN1,upstream_gene_variant,,ENST00000407583,NM_001145047.1;GPN1,upstream_gene_variant,,ENST00000503738,;CCDC121,downstream_gene_variant,,ENST00000522876,;RP11-158I13.2,intron_variant,,ENST00000505973,;GPN1,upstream_gene_variant,,ENST00000461249,;GPN1,upstream_gene_variant,,ENST00000481754,;ZNF512,downstream_gene_variant,,ENST00000488055,;GPN1,upstream_gene_variant,,ENST00000478484,;GPN1,upstream_gene_variant,,ENST00000436280,;							MODERATE	440/837	L147H	CC121_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000339087		CCDS1759.1			1	
C18orf54	0	LGGM	GRCh37	18	51888705	51888705	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	58	37	.	.	ENST00000300091.5:c.589+387A>G		*197*	ENST00000300091	NM_173529.4			0	1	1	UPI0000074279	0		ENST00000300091		ENSG00000166845	13796		95			HGNC	p.K326E		C18orf54		SNV							ENST00000382911	protein_coding							G		-/5237				J3KS56_HUMAN,J3KRX3_HUMAN,I7HAS0_HUMAN,I7GY12_HUMAN			YES	C18orf54,missense_variant,p.Lys326Glu,ENST00000382911,;C18orf54,intron_variant,,ENST00000300091,NM_173529.4;C18orf54,intron_variant,,ENST00000578138,;STARD6,upstream_gene_variant,,ENST00000581310,;STARD6,upstream_gene_variant,,ENST00000577499,;STARD6,upstream_gene_variant,,ENST00000584040,;C18orf54,upstream_gene_variant,,ENST00000582188,;							MODIFIER	-/1119		LAS2_HUMAN			Transcript			.	ENSP00000300091		CCDS11956.1			1	
GRM1	0	LGGM	GRCh37	6	146755221	146755221	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	44	37	.	.	ENST00000361719.2:c.2874G>A	p.Glu958=	p.E958=	ENST00000361719		958	gaG/gaA	0	1		UPI000013DCFD	0		ENST00000282753		ENSG00000152822	4593		81			HGNC	p.E958E		GRM1		SNV			1				ENST00000361719	protein_coding					E		A		3109/6622								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,;							LOW	2874/3585		GRM1_HUMAN			Transcript			.	ENSP00000282753		CCDS5209.1			1	
OGT	0	LGGM	GRCh37	X	70783026	70783026	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	3	38	.	.	ENST00000373719.3:c.2195A>G	p.Asn732Ser	p.N732S	ENST00000373719	NM_181673.2	732	aAt/aGt	0	1	1	UPI0000073C9F	0	getma.org/pdb.php?prot=OGT1_HUMAN&from=556&to=1024&var=N732S	ENST00000373719		ENSG00000147162	8127		41	1.27		HGNC	p.N722S		OGT		SNV							ENST00000373701	protein_coding	getma.org/?cm=var&var=hg19,X,70783026,A,G&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF369,Pfam_domain:PF13844		N/S		G	low	2412/5461		getma.org/?cm=msa&ty=f&p=OGT1_HUMAN&rb=556&re=1024&var=N732S	tolerated(0.1)	C9JZL3_HUMAN			YES	OGT,missense_variant,p.Asn732Ser,ENST00000373719,NM_181673.2,NM_181672.2;OGT,missense_variant,p.Asn722Ser,ENST00000373701,;OGT,non_coding_transcript_exon_variant,,ENST00000488174,;OGT,upstream_gene_variant,,ENST00000474633,;							MODERATE	2195/3141	N732S	OGT1_HUMAN			Transcript		benign(0.012)	.	ENSP00000362824		CCDS14414.1			1	
ZNF99	0	LGGM	GRCh37	19	22941743	22941743	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	69	39	.	.	ENST00000596209.1:c.968A>T	p.Asn323Ile	p.N323I	ENST00000596209	NM_001080409.2	323	aAc/aTc	0	1	1	UPI0000426011	0	getma.org/pdb.php?prot=ZNF99_HUMAN&from=208&to=233&var=N232I	ENST00000596209		ENSG00000213973	13175		108	0.16		HGNC	p.N323I		ZNF99		SNV							ENST00000596209	protein_coding	getma.org/?cm=var&var=hg19,19,22941743,T,A&fts=all		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		N/I		A	neutral	1059/2686		getma.org/?cm=msa&ty=f&p=ZNF99_HUMAN&rb=188&re=253&var=N232I	tolerated(0.36)	M0R335_HUMAN			YES	ZNF99,missense_variant,p.Asn232Ile,ENST00000397104,;ZNF99,missense_variant,p.Asn323Ile,ENST00000596209,NM_001080409.2;CTC-451A6.4,upstream_gene_variant,,ENST00000442497,;							MODERATE	968/2595	N232I				Transcript		possibly_damaging(0.888)	.	ENSP00000472969		CCDS59369.1			1	
ACVR2B	0	LGGM	GRCh37	3	38520649	38520649	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	68	40	.	.	ENST00000352511.4:c.697A>C	p.Ile233Leu	p.I233L	ENST00000352511	NM_001106.3	233	Atc/Ctc	0	1	1	UPI00001AF0AE	0	getma.org/pdb.php?prot=AVR2B_HUMAN&from=190&to=478&var=I233L	ENST00000352511		ENSG00000114739	174		108	1.42		HGNC	p.I233L		ACVR2B		SNV			1				ENST00000352511	protein_coding	getma.org/?cm=var&var=hg19,3,38520649,A,C&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF57,Superfamily_domains:SSF56112		I/L		C	low	1169/11821		getma.org/?cm=msa&ty=f&p=AVR2B_HUMAN&rb=190&re=478&var=I233L	deleterious(0)	Q71UM3_HUMAN,Q4VAU9_HUMAN			YES	ACVR2B,missense_variant,p.Ile233Leu,ENST00000352511,NM_001106.3;ACVR2B,non_coding_transcript_exon_variant,,ENST00000461232,;ACVR2B,non_coding_transcript_exon_variant,,ENST00000465020,;							MODERATE	697/1539	I233L	AVR2B_HUMAN			Transcript		benign(0.133)	.	ENSP00000340361		CCDS2679.1			1	
RNF150	0	LGGM	GRCh37	4	141888894	141888894	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	71	42	.	.	ENST00000515673.2:c.618C>A	p.Arg206=	p.R206=	ENST00000515673		206	cgC/cgA	0	1	1	UPI00004C9B0C	0		ENST00000515673		ENSG00000170153	23138		113			HGNC	p.R65R		RNF150		SNV							ENST00000420921	protein_coding			hmmpanther:PTHR22765:SF42,hmmpanther:PTHR22765		R		T		652/9805				D6RIE5_HUMAN			YES	RNF150,synonymous_variant,p.=,ENST00000515673,;RNF150,synonymous_variant,p.=,ENST00000420921,;RNF150,synonymous_variant,p.=,ENST00000379512,;RNF150,synonymous_variant,p.=,ENST00000507500,;RNF150,synonymous_variant,p.=,ENST00000506101,;RNF150,intron_variant,,ENST00000306799,NM_020724.1;RNF150,non_coding_transcript_exon_variant,,ENST00000515057,;							LOW	618/1317		RN150_HUMAN			Transcript			.	ENSP00000425840		CCDS34065.1			1	
BCAT1	0	LGGM	GRCh37	12	25047298	25047298	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	28	44	.	.	ENST00000539282.1:c.226T>G	p.Ser76Ala	p.S76A	ENST00000539282	NM_001178093.1	76	Tca/Gca	0	1		UPI0000213DBE	0	getma.org/pdb.php?prot=BCAT1_HUMAN&from=1&to=110&var=S64A	ENST00000261192		ENSG00000060982	976		72	-0.195		HGNC	p.S76A		BCAT1		SNV							ENST00000539282	protein_coding	getma.org/?cm=var&var=hg19,12,25047298,A,C&fts=all		Gene3D:3.30.470.10,PIRSF_domain:PIRSF006468,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF29,Superfamily_domains:SSF56752		S/A		C	neutral	717/8335		getma.org/?cm=msa&ty=f&p=BCAT1_HUMAN&rb=1&re=110&var=S64A	tolerated(0.72)					BCAT1,missense_variant,p.Ser64Ala,ENST00000261192,NM_005504.6,NM_001178091.1;BCAT1,missense_variant,p.Ser63Ala,ENST00000538118,NM_001178094.1;BCAT1,missense_variant,p.Ser40Ala,ENST00000342945,NM_001178092.1;BCAT1,missense_variant,p.Ser76Ala,ENST00000539282,NM_001178093.1;BCAT1,missense_variant,p.Ser64Ala,ENST00000539780,;BCAT1,missense_variant,p.Ser40Ala,ENST00000546285,;BCAT1,non_coding_transcript_exon_variant,,ENST00000544418,;							MODERATE	190/1161	S64A	BCAT1_HUMAN			Transcript		benign(0)	.	ENSP00000261192		CCDS44845.1			1	
ZFPM2	0	LGGM	GRCh37	8	106815206	106815206	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	77	47	.	.	ENST00000407775.2:c.2896T>C	p.Cys966Arg	p.C966R	ENST00000407775	NM_012082.3	966	Tgc/Cgc	0	1	1	UPI000057A0B4	0	NA	ENST00000407775		ENSG00000169946	16700		124	0.805		HGNC	p.C834R		ZFPM2		SNV			1				ENST00000520492	protein_coding	getma.org/?cm=var&var=hg19,8,106815206,T,C&fts=all		hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF5		C/R		C	low	3146/4700		getma.org/?cm=msa&ty=f&p=FOG2_HUMAN&rb=887&re=1045&var=C966R	deleterious(0.05)	Q9NPQ0_HUMAN,F5H542_HUMAN,E7ET52_HUMAN,E5RJX0_HUMAN			YES	ZFPM2,missense_variant,p.Cys966Arg,ENST00000407775,NM_012082.3;ZFPM2,missense_variant,p.Cys834Arg,ENST00000520492,;ZFPM2,missense_variant,p.Cys834Arg,ENST00000517361,;ZFPM2,missense_variant,p.Cys697Arg,ENST00000378472,;RP11-152P17.2,intron_variant,,ENST00000524045,;RP11-152P17.2,intron_variant,,ENST00000520433,;RP11-152P17.2,intron_variant,,ENST00000518932,;RP11-152P17.2,intron_variant,,ENST00000520594,;RP11-152P17.2,intron_variant,,ENST00000509144,;RP11-152P17.2,intron_variant,,ENST00000521622,;ZFPM2,non_coding_transcript_exon_variant,,ENST00000522296,;RP11-152P17.2,intron_variant,,ENST00000520078,;							MODERATE	2896/3456	C966R	FOG2_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000384179		CCDS47908.1			1	
HBS1L	0	LGGM	GRCh37	6	135358809	135358809	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H110379	H110379N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	88	48	.	.	ENST00000367837.5:c.430+1902G>T		*144*	ENST00000367837	NM_006620.3			0	1	1	UPI00000372EA	0		ENST00000367837		ENSG00000112339	4834		136			HGNC	p.L262F		HBS1L		SNV							ENST00000367822	protein_coding							A		-/7163				E9PS53_HUMAN,E9PHZ9_HUMAN,D9YZV0_HUMAN,B7Z524_HUMAN,B7Z1K2_HUMAN			YES	HBS1L,missense_variant,p.Leu262Phe,ENST00000367822,NM_001145207.1;HBS1L,intron_variant,,ENST00000367837,NM_006620.3,NM_001145158.1;HBS1L,intron_variant,,ENST00000367826,;HBS1L,intron_variant,,ENST00000415177,;HBS1L,intron_variant,,ENST00000533274,;HBS1L,intron_variant,,ENST00000367824,;HBS1L,intron_variant,,ENST00000445176,;HBS1L,intron_variant,,ENST00000314674,;HBS1L,intron_variant,,ENST00000367820,;HBS1L,intron_variant,,ENST00000524715,;HBS1L,intron_variant,,ENST00000529882,;HBS1L,downstream_gene_variant,,ENST00000525067,;HBS1L,intron_variant,,ENST00000526100,;							MODIFIER	-/2055		HBS1L_HUMAN			Transcript			.	ENSP00000356811		CCDS5173.1			1	
NPAT	0	LGGM	GRCh37	11	108068089	108068089	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	51	52	.	.	ENST00000278612.8:c.96A>G	p.Ser32=	p.S32=	ENST00000278612	NM_002519.2	32	tcA/tcG	0	1	1	UPI00001FA306	0		ENST00000278612		ENSG00000149308	7896		103			HGNC	p.S32S		NPAT		SNV							ENST00000278612	protein_coding			SMART_domains:SM00667,hmmpanther:PTHR15087:SF5,hmmpanther:PTHR15087,PROSITE_profiles:PS50896		S		C		202/6117							YES	NPAT,synonymous_variant,p.=,ENST00000278612,NM_002519.2;NPAT,non_coding_transcript_exon_variant,,ENST00000610253,;NPAT,3_prime_UTR_variant,,ENST00000531384,;							LOW	96/4284		NPAT_HUMAN			Transcript			.	ENSP00000278612		CCDS41710.1			1	
BBS9	0	LGGM	GRCh37	7	33312767	33312767	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	130	53	.	.	ENST00000242067.6:c.846del	p.Lys282AsnfsTer20	p.K282Nfs*20	ENST00000242067	NM_198428.2	282	aaG/aa	0	1	1	UPI000020ED57	0		ENST00000242067		ENSG00000122507	30000		183			HGNC	p.K282fs		BBS9		deletion			1				ENST00000396127	protein_coding			Pfam_domain:PF14727,hmmpanther:PTHR20991,hmmpanther:PTHR20991:SF0		K/X		-		1367/4027				C9JRR5_HUMAN,C9JJ08_HUMAN			YES	BBS9,frameshift_variant,p.Lys282AsnfsTer20,ENST00000242067,NM_198428.2;BBS9,frameshift_variant,p.Lys282AsnfsTer20,ENST00000355070,NM_001033605.1;BBS9,frameshift_variant,p.Lys282AsnfsTer20,ENST00000396127,NM_001033604.1;BBS9,frameshift_variant,p.Lys282AsnfsTer20,ENST00000354265,;BBS9,frameshift_variant,p.Lys282AsnfsTer20,ENST00000350941,NM_014451.3;BBS9,frameshift_variant,p.Lys237AsnfsTer20,ENST00000425508,;BBS9,downstream_gene_variant,,ENST00000442858,;BBS9,frameshift_variant,p.Lys282AsnfsTer20,ENST00000433714,;AC007312.3,downstream_gene_variant,,ENST00000427493,;							HIGH	846/2664		PTHB1_HUMAN			Transcript			.	ENSP00000242067		CCDS43566.1			1	
TNRC6B	0	LGGM	GRCh37	22	40661357	40661357	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	58	57	.	.	ENST00000454349.2:c.1123A>C	p.Asn375His	p.N375H	ENST00000454349	NM_001162501.1	375	Aat/Cat	0	1	1	UPI00017A6F19	0	NA	ENST00000454349		ENSG00000100354	29190		115	0.805		HGNC	p.N375H		TNRC6B		SNV							ENST00000454349	protein_coding	getma.org/?cm=var&var=hg19,22,40661357,A,C&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF32		N/H		C	low	1334/18279		getma.org/?cm=msa&ty=f&p=TNR6B_HUMAN&rb=1&re=579&var=N375H	deleterious(0)				YES	TNRC6B,missense_variant,p.Asn375His,ENST00000454349,NM_001162501.1;TNRC6B,missense_variant,p.Asn375His,ENST00000335727,NM_015088.2;TNRC6B,missense_variant,p.Asn118His,ENST00000446273,;TNRC6B,intron_variant,,ENST00000301923,NM_001024843.1;TNRC6B,intron_variant,,ENST00000402203,;							MODERATE	1123/5502	N375H	TNR6B_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000401946		CCDS54533.1			1	
C7	0	LGGM	GRCh37	5	40950059	40950059	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	87	57	.	.	ENST00000313164.9:c.1036G>A	p.Val346Ile	p.V346I	ENST00000313164	NM_000587.2	346	Gtt/Att	0	1	1	UPI000020CA08	0	getma.org/pdb.php?prot=CO7_HUMAN&from=225&to=448&var=V346I	ENST00000313164		ENSG00000112936	1346	0.00203	144	-0.345		HGNC	p.V346I	rs369760989	C7		SNV	A:0.0003		1	0.000682			ENST00000313164	protein_coding	getma.org/?cm=var&var=hg19,5,40950059,G,A&fts=all		Pfam_domain:PF01823,PROSITE_profiles:PS51412,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF312,SMART_domains:SM00457		V/I	A:0	A	neutral	1395/4257	9.93E-05	getma.org/?cm=msa&ty=f&p=CO7_HUMAN&rb=225&re=448&var=V346I	tolerated(0.49)				YES	C7,missense_variant,p.Val346Ile,ENST00000313164,NM_000587.2;C7,downstream_gene_variant,,ENST00000508185,;	0.000229						MODERATE	1036/2532	V346I	CO7_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000322061	0.000141	CCDS47201.1			1	
MUC16	0	LGGM	GRCh37	19	9060614	9060614	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	81	57	.	.	ENST00000397910.4:c.26832C>T	p.Gly8944=	p.G8944=	ENST00000397910	NM_024690.2	8944	ggC/ggT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		138			HGNC	p.G8944G		MUC16		SNV							ENST00000397910	protein_coding					G		A		27036/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	26832/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
CREB3L2	0	LGGM	GRCh37	7	137569764	137569764	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	28	58	.	.	ENST00000330387.6:c.1247A>T	p.Gln416Leu	p.Q416L	ENST00000330387	NM_194071.3	416	cAg/cTg	0	1	1	UPI0000457614	0	NA	ENST00000330387		ENSG00000182158	23720		86	0.345		HGNC	p.Q416L		CREB3L2		SNV			1				ENST00000330387	protein_coding	getma.org/?cm=var&var=hg19,7,137569764,T,A&fts=all		hmmpanther:PTHR22952:SF96,hmmpanther:PTHR22952		Q/L		A	neutral	1599/7412		getma.org/?cm=msa&ty=f&p=CR3L2_HUMAN&rb=362&re=520&var=Q416L	tolerated(0.09)				YES	CREB3L2,missense_variant,p.Gln416Leu,ENST00000330387,NM_194071.3;CREB3L2,missense_variant,p.Gln416Leu,ENST00000456390,;							MODERATE	1247/1563	Q416L	CR3L2_HUMAN			Transcript		benign(0.004)	.	ENSP00000329140		CCDS34760.1			1	
TRAPPC11	0	LGGM	GRCh37	4	184606428	184606428	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	71	59	.	.	ENST00000334690.6:c.1634A>G	p.Glu545Gly	p.E545G	ENST00000334690	NM_021942.5	545	gAa/gGa	0	1	1	UPI000020B774	0	NA	ENST00000334690		ENSG00000168538	25751		130	1.995		HGNC	p.E545G		TRAPPC11		SNV			1				ENST00000357207	protein_coding	getma.org/?cm=var&var=hg19,4,184606428,A,G&fts=all		hmmpanther:PTHR14374		E/G		G	medium	1836/4552		getma.org/?cm=msa&ty=f&p=TPC11_HUMAN&rb=401&re=600&var=E545G	tolerated(0.13)				YES	TRAPPC11,missense_variant,p.Glu545Gly,ENST00000334690,NM_021942.5;TRAPPC11,missense_variant,p.Glu545Gly,ENST00000357207,NM_199053.2;TRAPPC11,missense_variant,p.Glu151Gly,ENST00000512476,;TRAPPC11,intron_variant,,ENST00000505676,;							MODERATE	1634/3402	E545G	TPC11_HUMAN			Transcript		benign(0.403)	.	ENSP00000335371		CCDS34112.1			1	
IGHV1-46	0	LGGM	GRCh37	14	106967160	106967160	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	90	64	.	.	ENST00000390622.2:c.240A>G	p.Ala80=	p.A80=	ENST00000390622		80	gcA/gcG	0	1	1	UPI0000113ACE	0		ENST00000390622		ENSG00000211962	5554		154			HGNC	p.A80A		IGHV1-46		SNV							ENST00000390622	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF73,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		A		C		544/655							YES	IGHV1-46,synonymous_variant,p.=,ENST00000390622,;IGHV1-45,upstream_gene_variant,,ENST00000390621,;LINC00221,intron_variant,,ENST00000433371,;IGHVII-46-1,downstream_gene_variant,,ENST00000519794,;							LOW	240/351					Transcript			.	ENSP00000375031					1	
SPAG8	0	LGGM	GRCh37	9	35810019	35810019	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H110379	H110379N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	120	68	.	.	ENST00000340291.2:c.1263+225C>T		*421*	ENST00000340291	NM_172312.1			0	1		UPI0000072B9C	0		ENST00000475644		ENSG00000137098	14105		188			HGNC	p.Y450Y		SPAG8		SNV							ENST00000484764	nonsense_mediated_decay							A		1603/2481				F8WBP3_HUMAN				SPAG8,synonymous_variant,p.=,ENST00000484764,;SPAG8,synonymous_variant,p.=,ENST00000396638,NM_001039592.1;SPAG8,synonymous_variant,p.=,ENST00000497810,;SPAG8,intron_variant,,ENST00000340291,NM_172312.1;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,;SPAG8,3_prime_UTR_variant,,ENST00000475644,;SPAG8,3_prime_UTR_variant,,ENST00000495667,;SPAG8,intron_variant,,ENST00000460836,;NPR2,downstream_gene_variant,,ENST00000464810,;SPAG8,downstream_gene_variant,,ENST00000472605,;SPAG8,downstream_gene_variant,,ENST00000471631,;NPR2,downstream_gene_variant,,ENST00000448821,;NPR2,downstream_gene_variant,,ENST00000469249,;							MODIFIER	-/1281		SPAG8_HUMAN			Transcript			.	ENSP00000418530					1	
PSG9	0	LGGM	GRCh37	19	43772099	43772099	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110379	H110379N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	104	80	.	.	ENST00000270077.3:c.267T>C	p.Ile89=	p.I89=	ENST00000270077	NM_002784.3	89	atT/atC	0	1	1	UPI00001327A5	0		ENST00000270077		ENSG00000183668	9526		184			HGNC	p.I89I		PSG9		SNV							ENST00000596730	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF126		I		G		364/1705				Q9UMH8_HUMAN,Q15461_HUMAN,Q12810_HUMAN			YES	PSG9,synonymous_variant,p.=,ENST00000244293,;PSG9,synonymous_variant,p.=,ENST00000596730,;PSG9,synonymous_variant,p.=,ENST00000418820,;PSG9,synonymous_variant,p.=,ENST00000270077,NM_002784.3;PSG9,synonymous_variant,p.=,ENST00000593948,;PSG9,synonymous_variant,p.=,ENST00000443718,;PSG9,synonymous_variant,p.=,ENST00000291752,;							LOW	267/1281		PSG9_HUMAN			Transcript			.	ENSP00000270077		CCDS12618.1			1	
PSG3	0	LGGM	GRCh37	19	43236945	43236945	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	133	80	.	.	ENST00000327495.5:c.700A>C	p.Asn234His	p.N234H	ENST00000327495	NM_021016.3	234	Aat/Cat	0	1	1	UPI0000073DC1	0	getma.org/pdb.php?prot=PSG3_HUMAN&from=148&to=235&var=N234H	ENST00000327495		ENSG00000221826	9520		213	1.9		HGNC	p.N234H		PSG3		SNV							ENST00000327495	protein_coding	getma.org/?cm=var&var=hg19,19,43236945,T,G&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF116,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		N/H		G	low	885/1961		getma.org/?cm=msa&ty=f&p=PSG3_HUMAN&rb=148&re=235&var=N234H	deleterious(0)				YES	PSG3,missense_variant,p.Asn234His,ENST00000327495,NM_021016.3;PSG3,missense_variant,p.Asn234His,ENST00000595140,;PSG3,downstream_gene_variant,,ENST00000490592,;PSG3,3_prime_UTR_variant,,ENST00000594378,;PSG3,non_coding_transcript_exon_variant,,ENST00000597009,;							MODERATE	700/1287	N234H	PSG3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000332215		CCDS12611.1			1	
COL6A3	0	LGGM	GRCh37	2	238267698	238267698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	173	116	.	.	ENST00000295550.4:c.6388A>G	p.Lys2130Glu	p.K2130E	ENST00000295550	NM_004369.3	2130	Aaa/Gaa	0	1	1	UPI0000456F39	0	NA	ENST00000295550		ENSG00000163359	2213		289	1.955		HGNC	p.K1523E		COL6A3		SNV			1				ENST00000472056	protein_coding	getma.org/?cm=var&var=hg19,2,238267698,T,C&fts=all		hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83		K/E		C	medium	6841/10749		getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=2104&re=2163&var=K2130E		Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	COL6A3,missense_variant,p.Lys2130Glu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Lys1929Glu,ENST00000347401,;COL6A3,missense_variant,p.Lys1924Glu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Lys1930Glu,ENST00000346358,;COL6A3,missense_variant,p.Lys1924Glu,ENST00000409809,;COL6A3,missense_variant,p.Lys1523Glu,ENST00000472056,NM_057166.4;COL6A3,upstream_gene_variant,,ENST00000491769,;COL6A3,upstream_gene_variant,,ENST00000493475,;							MODERATE	6388/9534	K2130E	CO6A3_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000295550		CCDS33412.1			1	
ATRX	0	LGGM	GRCh37	X	76939237	76939237	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110379	H110379N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110379N.bam, H110379T.bam	Illumina HiSeq	21	116	.	.	ENST00000373344.5:c.1511A>G	p.Tyr504Cys	p.Y504C	ENST00000373344	NM_000489.3	504	tAt/tGt	0	1	1	UPI0000161F78	0	NA	ENST00000373344		ENSG00000085224	886		137	1.61		HGNC	p.Y504C		ATRX		SNV			1				ENST00000373344	protein_coding	getma.org/?cm=var&var=hg19,X,76939237,T,C&fts=all		hmmpanther:PTHR10799:SF566,hmmpanther:PTHR10799		Y/C		C	low	1726/11167		getma.org/?cm=msa&ty=f&p=ATRX_HUMAN&rb=401&re=600&var=Y504C		B4DLE1_HUMAN			YES	ATRX,missense_variant,p.Tyr504Cys,ENST00000373344,NM_000489.3;ATRX,missense_variant,p.Tyr466Cys,ENST00000395603,NM_138270.2;ATRX,non_coding_transcript_exon_variant,,ENST00000480283,;ATRX,upstream_gene_variant,,ENST00000493470,;							MODERATE	1511/7479	Y504C	ATRX_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000362441		CCDS14434.1			1	
CTD-3193O13.9	0	LGGM	GRCh37	19	7935795	7935863	+	splice_donor_variant,non_coding_transcript_exon_variant,intron_variant	Splice_Site	DEL	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	-	novel	by Submitter	H110451	H110451N.bam	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG	GGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAGAGAAGGTAGGTTCTCCAGAG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	4	3	.	.	ENST00000597156.1:n.402+31_432del		p.X134_splice	ENST00000597156				0	1	1	UPI0001DA930F	0		ENST00000539422		ENSG00000183248		0.0192	7			Clone_based_vega_gene	p.40_49del		CTD-3193O13.9	0.0303	deletion				0.0121			ENST00000327607	protein_coding					PLENLPSLAPPPLQTASAPLTTPH/H		-		2430-2498/4518	0.0353			F5H1R7_HUMAN			YES	CTD-3193O13.9,inframe_deletion,p.Pro756_Pro778del,ENST00000539422,NM_001190467.1;CTD-3193O13.9,inframe_deletion,p.Pro171_Pro193del,ENST00000599142,;CTD-3193O13.11,splice_donor_variant,,ENST00000597156,;CTD-3193O13.9,intron_variant,,ENST00000593356,;	0.0484						MODERATE	2267-2335/4041					Transcript			common_variant	ENSP00000438970	0.011				1	
FASN	0	LGGM	GRCh37	17	80037061	80037061	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	14	2	.	.	ENST00000306749.2:c.7494C>G	p.His2498Gln	p.H2498Q	ENST00000306749	NM_004104.4	2498	caC/caG	0	1	1	UPI000013EB82	0	NA	ENST00000306749		ENSG00000169710	3594		16	1.735		HGNC	p.H2498Q		FASN		SNV							ENST00000306749	protein_coding	getma.org/?cm=var&var=hg19,17,80037061,G,C&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00975,hmmpanther:PTHR11712,hmmpanther:PTHR11712:SF227,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474		H/Q		C	low	7713/8560		getma.org/?cm=msa&ty=f&p=FAS_HUMAN&rb=2242&re=2501&var=H2498Q	tolerated(0.1)				YES	FASN,missense_variant,p.His2498Gln,ENST00000306749,NM_004104.4;FASN,downstream_gene_variant,,ENST00000579758,;FASN,3_prime_UTR_variant,,ENST00000580382,;FASN,non_coding_transcript_exon_variant,,ENST00000584610,;FASN,downstream_gene_variant,,ENST00000578424,;							MODERATE	7494/7536	H2498Q	FAS_HUMAN			Transcript		possibly_damaging(0.817)	.	ENSP00000304592		CCDS11801.1			1	
INF2	0	LGGM	GRCh37	14	105177433	105177433	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	12	2	.	.	ENST00000392634.4:c.2328C>A	p.Asp776Glu	p.D776E	ENST00000392634	NM_022489.3	776	gaC/gaA	0	1	1	UPI000156D0FB	0	getma.org/pdb.php?prot=INF2_HUMAN&from=554&to=921&var=D776E	ENST00000392634		ENSG00000203485	23791		14	1.915		HGNC	p.D776E		INF2		SNV			1				ENST00000330634	protein_coding	getma.org/?cm=var&var=hg19,14,105177433,C,A&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213:SF5,hmmpanther:PTHR23213,Pfam_domain:PF02181,SMART_domains:SM00498,Superfamily_domains:SSF101447		D/E		A	medium	2440/4672		getma.org/?cm=msa&ty=f&p=INF2_HUMAN&rb=554&re=921&var=D776E	deleterious(0)				YES	INF2,missense_variant,p.Asp776Glu,ENST00000392634,NM_022489.3;INF2,missense_variant,p.Asp776Glu,ENST00000330634,NM_001031714.3;INF2,missense_variant,p.Asp244Glu,ENST00000252527,;INF2,upstream_gene_variant,,ENST00000481338,;INF2,non_coding_transcript_exon_variant,,ENST00000474229,;INF2,intron_variant,,ENST00000480763,;INF2,upstream_gene_variant,,ENST00000477497,;							MODERATE	2328/3750	D776E	INF2_HUMAN			Transcript		unknown(0)	.	ENSP00000376410		CCDS9989.2			1	
R3HDM2	0	LGGM	GRCh37	12	57660563	57660563	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110451	H110451N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	5	2	.	.	ENST00000347140.3:c.2040T>C	p.Pro680=	p.P680=	ENST00000347140		680	ccT/ccC	0	1	1	UPI00005A60D3	0		ENST00000347140		ENSG00000179912	29167		7			HGNC	p.P680P		R3HDM2		SNV							ENST00000347140	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672		P		G		2431/4331				C9J7N6_HUMAN			YES	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,synonymous_variant,p.=,ENST00000413953,;R3HDM2,synonymous_variant,p.=,ENST00000548161,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000546843,;R3HDM2,downstream_gene_variant,,ENST00000466401,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;							LOW	2040/2931		R3HD2_HUMAN			Transcript			.	ENSP00000317903		CCDS8937.2			1	
MED13	0	LGGM	GRCh37	17	60060411	60060411	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	17	2	.	.	ENST00000397786.2:c.2953G>T	p.Gly985Trp	p.G985W	ENST00000397786	NM_005121.2	985	Ggg/Tgg	0	1	1	UPI0000D7D6F6	0	NA	ENST00000397786		ENSG00000108510	22474		19	0		HGNC	p.G985W		MED13		SNV							ENST00000397786	protein_coding	getma.org/?cm=var&var=hg19,17,60060411,C,A&fts=all		hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF22		G/W		A	neutral	3030/10465		getma.org/?cm=msa&ty=f&p=MED13_HUMAN&rb=985&re=1184&var=G985W	deleterious(0.05)				YES	MED13,missense_variant,p.Gly985Trp,ENST00000397786,NM_005121.2;							MODERATE	2953/6525	G985W	MED13_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000380888		CCDS42366.1			1	
CREBBP	0	LGGM	GRCh37	16	3788617	3788617	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	15	2	.	.	ENST00000262367.5:c.4337G>T	p.Arg1446Leu	p.R1446L	ENST00000262367	NM_004380.2	1446	cGc/cTc	0	1	1	UPI0000000620	0	getma.org/pdb.php?prot=CBP_HUMAN&from=1342&to=1648&var=R1446L	ENST00000262367		ENSG00000005339	2348		17	3.765		HGNC	p.R1408L	COSM88738	CREBBP		SNV			1			1	ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3788617,C,A&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5,Pfam_domain:PF08214		R/L		A	high	5147/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1342&re=1648&var=R1446L		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			YES	CREBBP,missense_variant,p.Arg1446Leu,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Arg1408Leu,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000570939,;CREBBP,downstream_gene_variant,,ENST00000573517,;CREBBP,intron_variant,,ENST00000576720,;CREBBP,intron_variant,,ENST00000574740,;CREBBP,downstream_gene_variant,,ENST00000572569,;CREBBP,upstream_gene_variant,,ENST00000571763,;					1		MODERATE	4337/7329	R1446L	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
ANKRD13A	0	LGGM	GRCh37	12	110468531	110468531	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	10	2	.	.	ENST00000261739.4:c.1316C>A	p.Ser439Tyr	p.S439Y	ENST00000261739	NM_033121.1	439	tCt/tAt	0	1	1	UPI000004472C	0	NA	ENST00000261739		ENSG00000076513	21268		12	1.245		HGNC	p.S77Y		ANKRD13A		SNV							ENST00000549826	protein_coding	getma.org/?cm=var&var=hg19,12,110468531,C,A&fts=all		hmmpanther:PTHR12447,hmmpanther:PTHR12447:SF4,Pfam_domain:PF11904		S/Y		A	low	1482/4148		getma.org/?cm=msa&ty=f&p=AN13A_HUMAN&rb=156&re=471&var=S439Y	deleterious(0.04)	Q3ZTS7_HUMAN,B4DDL0_HUMAN,B3KMT9_HUMAN			YES	ANKRD13A,missense_variant,p.Ser439Tyr,ENST00000261739,NM_033121.1;ANKRD13A,missense_variant,p.Ser292Tyr,ENST00000547639,;ANKRD13A,missense_variant,p.Ser109Tyr,ENST00000547419,;ANKRD13A,missense_variant,p.Ser56Tyr,ENST00000551491,;C12orf76,intron_variant,,ENST00000546651,;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000553251,;ANKRD13A,non_coding_transcript_exon_variant,,ENST00000549826,;ANKRD13A,downstream_gene_variant,,ENST00000553025,;ANKRD13A,downstream_gene_variant,,ENST00000546476,;							MODERATE	1316/1773	S439Y	AN13A_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000261739		CCDS9140.1			1	
TEX11	0	LGGM	GRCh37	X	69960620	69960620	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	12	2	.	.	ENST00000395889.2:c.819G>T	p.Thr273=	p.T273=	ENST00000395889	NM_001003811.1	273	acG/acT	0	1		UPI000013CA89	0		ENST00000344304		ENSG00000120498	11733		14			HGNC	p.T273T	rs757473146	TEX11		SNV			1				ENST00000395889	protein_coding			hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631		T		A		819/2977	2.58E-05							TEX11,synonymous_variant,p.=,ENST00000395889,NM_001003811.1;TEX11,synonymous_variant,p.=,ENST00000374333,NM_031276.2;TEX11,synonymous_variant,p.=,ENST00000344304,;							LOW	819/2823		TEX11_HUMAN			Transcript			.	ENSP00000340995	2.47E-05	CCDS35323.1			1	
CHPF	0	LGGM	GRCh37	2	220406470	220406470	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	15	2	.	.	ENST00000243776.6:c.756G>T	p.Ser252=	p.S252=	ENST00000243776	NM_024536.5	252	tcG/tcT	0	1	1	UPI00001AE6D6	0		ENST00000243776		ENSG00000123989	24291		17			HGNC	p.S252S		CHPF		SNV							ENST00000243776	protein_coding			hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF12		S		A		1005/3013							YES	CHPF,synonymous_variant,p.=,ENST00000243776,NM_024536.5;CHPF,synonymous_variant,p.=,ENST00000535926,NM_001195731.1;CHPF,synonymous_variant,p.=,ENST00000373891,;ASIC4,downstream_gene_variant,,ENST00000358078,;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.1;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000474489,;							LOW	756/2328		CHSS2_HUMAN			Transcript			.	ENSP00000243776		CCDS2443.1			1	
MAP3K15	0	LGGM	GRCh37	X	19398323	19398323	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	6	2	.	.	ENST00000338883.4:c.2504G>T	p.Trp835Leu	p.W835L	ENST00000338883	NM_001001671.3	835	tGg/tTg	0	1	1	UPI0000E444D0	0	getma.org/pdb.php?prot=M3K15_HUMAN&from=654&to=908&var=W835L	ENST00000338883		ENSG00000180815	31689		8	4.655		HGNC	p.W667L		MAP3K15		SNV							ENST00000469203	protein_coding	getma.org/?cm=var&var=hg19,X,19398323,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF363,SMART_domains:SM00220,Superfamily_domains:SSF56112		W/L		A	high	2504/4635		getma.org/?cm=msa&ty=f&p=M3K15_HUMAN&rb=654&re=908&var=W835L	deleterious(0)	E7EWI5_HUMAN			YES	MAP3K15,missense_variant,p.Trp835Leu,ENST00000338883,NM_001001671.3;MAP3K15,missense_variant,p.Trp270Leu,ENST00000359173,;MAP3K15,missense_variant,p.Trp667Leu,ENST00000469203,;Y_RNA,downstream_gene_variant,,ENST00000365274,;MAP3K15,non_coding_transcript_exon_variant,,ENST00000518578,;							MODERATE	2504/3942	W835L	M3K15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345629					1	
ZBTB17	0	LGGM	GRCh37	1	16274914	16274914	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	24	3	.	.	ENST00000375743.4:c.77G>T	p.Cys26Phe	p.C26F	ENST00000375743	NM_003443.2	26	tGc/tTc	0	1	1	UPI000013C9D2	0	getma.org/pdb.php?prot=ZBT17_HUMAN&from=14&to=113&var=C26F	ENST00000375743		ENSG00000116809	12936		27	1.705		HGNC	p.C26F		ZBTB17		SNV							ENST00000448462	protein_coding	getma.org/?cm=var&var=hg19,1,16274914,C,A&fts=all		Gene3D:3.30.710.10,Pfam_domain:PF00651,PROSITE_profiles:PS50097,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF165,SMART_domains:SM00225,Superfamily_domains:SSF54695		C/F		A	low	310/2745		getma.org/?cm=msa&ty=f&p=ZBT17_HUMAN&rb=14&re=113&var=C26F	deleterious_low_confidence(0)				YES	ZBTB17,missense_variant,p.Cys26Phe,ENST00000375733,NM_001287603.1;ZBTB17,missense_variant,p.Cys26Phe,ENST00000375743,NM_003443.2,NM_001287604.1;ZBTB17,missense_variant,p.Cys26Phe,ENST00000448462,;ZBTB17,intron_variant,,ENST00000537142,NM_001242884.1;ZBTB17,upstream_gene_variant,,ENST00000444358,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000479282,;ZBTB17,non_coding_transcript_exon_variant,,ENST00000494020,;ZBTB17,upstream_gene_variant,,ENST00000492834,;ZBTB17,upstream_gene_variant,,ENST00000474511,;ZBTB17,upstream_gene_variant,,ENST00000490899,;ZBTB17,upstream_gene_variant,,ENST00000472658,;ZBTB17,upstream_gene_variant,,ENST00000471805,;ZBTB17,upstream_gene_variant,,ENST00000464719,;ZBTB17,upstream_gene_variant,,ENST00000487785,;							MODERATE	77/2412	C26F	ZBT17_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364895		CCDS165.1			1	
PKD1	0	LGGM	GRCh37	16	2149940	2149940	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	20	3	.	.	ENST00000262304.4:c.9845C>A	p.Thr3282Asn	p.T3282N	ENST00000262304	NM_001009944.2	3282	aCc/aAc	0	1	1	UPI00001B0454	0	NA	ENST00000262304		ENSG00000008710	9008		23	2.905		HGNC	p.T3282N		PKD1		SNV			1				ENST00000423118	protein_coding	getma.org/?cm=var&var=hg19,16,2149940,G,T&fts=all		hmmpanther:PTHR10877:SF123,hmmpanther:PTHR10877,Prints_domain:PR00500		T/N		T	medium	10054/14138		getma.org/?cm=msa&ty=f&p=PKD1_HUMAN&rb=3229&re=3428&var=T3282N		O75276_HUMAN			YES	PKD1,missense_variant,p.Thr3282Asn,ENST00000262304,NM_001009944.2;PKD1,missense_variant,p.Thr3282Asn,ENST00000423118,NM_000296.3;PKD1,missense_variant,p.Thr483Asn,ENST00000567946,;RP11-304L19.1,downstream_gene_variant,,ENST00000570072,;RP11-304L19.3,upstream_gene_variant,,ENST00000565937,;RP11-304L19.1,downstream_gene_variant,,ENST00000563284,;PKD1,non_coding_transcript_exon_variant,,ENST00000570193,;PKD1,non_coding_transcript_exon_variant,,ENST00000566905,;PKD1,downstream_gene_variant,,ENST00000561991,;PKD1,downstream_gene_variant,,ENST00000475889,;PKD1,upstream_gene_variant,,ENST00000566784,;PKD1,3_prime_UTR_variant,,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,,ENST00000471603,;PKD1,non_coding_transcript_exon_variant,,ENST00000480227,;PKD1,non_coding_transcript_exon_variant,,ENST00000562297,;PKD1,non_coding_transcript_exon_variant,,ENST00000469851,;PKD1,non_coding_transcript_exon_variant,,ENST00000570253,;PKD1,downstream_gene_variant,,ENST00000565639,;PKD1,downstream_gene_variant,,ENST00000474088,;PKD1,downstream_gene_variant,,ENST00000483814,;							MODERATE	9845/12912	T3282N	PKD1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000262304		CCDS32369.1			1	
GPT2	0	LGGM	GRCh37	16	46934651	46934651	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	24	3	.	.	ENST00000340124.4:c.391G>T	p.Ala131Ser	p.A131S	ENST00000340124	NM_133443.2	131	Gct/Tct	0	1	1	UPI000004DBE2	0	getma.org/pdb.php?prot=ALAT2_HUMAN&from=110&to=511&var=A131S	ENST00000340124		ENSG00000166123	18062		27	2.725		HGNC	p.A131S		GPT2		SNV							ENST00000340124	protein_coding	getma.org/?cm=var&var=hg19,16,46934651,G,T&fts=all		hmmpanther:PTHR11751:SF311,hmmpanther:PTHR11751,Gene3D:3.40.640.10,Pfam_domain:PF00155,Superfamily_domains:SSF53383		A/S		T	medium	503/3984		getma.org/?cm=msa&ty=f&p=ALAT2_HUMAN&rb=110&re=511&var=A131S	deleterious(0.02)	B3KR40_HUMAN			YES	GPT2,missense_variant,p.Ala31Ser,ENST00000440783,NM_001142466.1;GPT2,missense_variant,p.Ala131Ser,ENST00000340124,NM_133443.2;GPT2,missense_variant,p.Ala53Ser,ENST00000562132,;							MODERATE	391/1572	A131S	ALAT2_HUMAN			Transcript		benign(0.326)	.	ENSP00000345282		CCDS10725.1			1	
GPR64	0	LGGM	GRCh37	X	19009166	19009166	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	35	3	.	.	ENST00000379869.3:c.2870G>T	p.Gly957Val	p.G957V	ENST00000379869	NM_001079858.2	957	gGa/gTa	0	1	1	UPI000021246C	0	NA	ENST00000379869		ENSG00000173698	4516		38	0.345		HGNC	p.G935V		GPR64		SNV							ENST00000360279	protein_coding	getma.org/?cm=var&var=hg19,X,19009166,C,A&fts=all		hmmpanther:PTHR12011:SF264,hmmpanther:PTHR12011		G/V		A	neutral	3034/4768		getma.org/?cm=msa&ty=f&p=GPR64_HUMAN&rb=876&re=1017&var=G957V	deleterious(0.02)				YES	GPR64,missense_variant,p.Gly941Val,ENST00000354791,;GPR64,missense_variant,p.Gly941Val,ENST00000379878,NM_001184833.1;GPR64,missense_variant,p.Gly933Val,ENST00000379876,NM_001184836.1,NM_001184835.1;GPR64,missense_variant,p.Gly957Val,ENST00000379869,NM_001079858.2,NM_005756.3;GPR64,missense_variant,p.Gly935Val,ENST00000360279,NM_001079860.2;GPR64,missense_variant,p.Gly906Val,ENST00000379873,NM_001184834.1;GPR64,missense_variant,p.Gly927Val,ENST00000357544,NM_001184837.1;GPR64,missense_variant,p.Gly954Val,ENST00000357991,;GPR64,missense_variant,p.Gly943Val,ENST00000356606,NM_001079859.2;GPR64,missense_variant,p.Gly838Val,ENST00000340581,;							MODERATE	2870/3054	G957V	GPR64_HUMAN			Transcript		benign(0.356)	.	ENSP00000369198		CCDS43923.1			1	
GABBR2	0	LGGM	GRCh37	9	101068489	101068489	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	8	3	.	.	ENST00000259455.2:c.2143G>T	p.Asp715Tyr	p.D715Y	ENST00000259455	NM_005458.7	715	Gac/Tac	0	1	1	UPI0000035832	0	NA	ENST00000259455		ENSG00000136928	4507		11	3.055		HGNC	p.D715Y		GABBR2		SNV							ENST00000259455	protein_coding	getma.org/?cm=var&var=hg19,9,101068489,C,A&fts=all		Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34		D/Y		A	medium	2603/5761		getma.org/?cm=msa&ty=f&p=GABR2_HUMAN&rb=491&re=747&var=D715Y	deleterious(0)	H9NIL8_HUMAN			YES	GABBR2,missense_variant,p.Asp715Tyr,ENST00000259455,NM_005458.7;							MODERATE	2143/2826	D715Y	GABR2_HUMAN			Transcript		benign(0.113)	.	ENSP00000259455		CCDS6736.1			1	
ENPP1	0	LGGM	GRCh37	6	132182820	132182820	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	47	3	.	.	ENST00000360971.2:c.1001C>A	p.Pro334Gln	p.P334Q	ENST00000360971	NM_006208.2	334	cCa/cAa	0	1	1	UPI00001303F0	0	getma.org/pdb.php?prot=ENPP1_HUMAN&from=212&to=538&var=P334Q	ENST00000360971		ENSG00000197594	3356		50	3.635		HGNC	p.P334Q		ENPP1		SNV			1				ENST00000513998	protein_coding	getma.org/?cm=var&var=hg19,6,132182820,C,A&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF01663,hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF64,Superfamily_domains:SSF53649		P/Q		A	high	1021/7442		getma.org/?cm=msa&ty=f&p=ENPP1_HUMAN&rb=212&re=538&var=P334Q	deleterious(0)	Q9NS95_HUMAN			YES	ENPP1,missense_variant,p.Pro334Gln,ENST00000360971,NM_006208.2;ENPP1,missense_variant,p.Pro334Gln,ENST00000513998,;ENPP1,non_coding_transcript_exon_variant,,ENST00000459624,;							MODERATE	1001/2778	P334Q	ENPP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000354238		CCDS5150.2			1	
MAGI1	0	LGGM	GRCh37	3	65479300	65479300	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	32	3	.	.	ENST00000402939.2:c.437C>A	p.Thr146Asn	p.T146N	ENST00000402939	NM_001033057.1	146	aCc/aAc	0	1	1	UPI0000457132	0	getma.org/pdb.php?prot=MAGI1_HUMAN&from=125&to=201&var=T146N	ENST00000402939		ENSG00000151276	946		35	3.7		HGNC	p.T21N		MAGI1		SNV							ENST00000463103	protein_coding	getma.org/?cm=var&var=hg19,3,65479300,G,T&fts=all		PROSITE_profiles:PS50052,hmmpanther:PTHR10316,hmmpanther:PTHR10316:SF12,PROSITE_patterns:PS00856,Pfam_domain:PF00625,Gene3D:3.30.63.10,SMART_domains:SM00072,Superfamily_domains:SSF52540		T/N		T	high	437/4389		getma.org/?cm=msa&ty=f&p=MAGI1_HUMAN&rb=125&re=201&var=T146N	deleterious(0)				YES	MAGI1,missense_variant,p.Thr146Asn,ENST00000330909,NM_015520.1;MAGI1,missense_variant,p.Thr146Asn,ENST00000483466,NM_004742.2;MAGI1,missense_variant,p.Thr146Asn,ENST00000402939,NM_001033057.1;MAGI1,missense_variant,p.Thr21Asn,ENST00000463103,;MAGI1,missense_variant,p.Thr27Asn,ENST00000460329,;MAGI1,missense_variant,p.Thr146Asn,ENST00000497477,;MAGI1,non_coding_transcript_exon_variant,,ENST00000470990,;MAGI1,non_coding_transcript_exon_variant,,ENST00000476403,;MAGI1,non_coding_transcript_exon_variant,,ENST00000496734,;MAGI1,non_coding_transcript_exon_variant,,ENST00000464060,;							MODERATE	437/4389	T146N	MAGI1_HUMAN			Transcript		possibly_damaging(0.645)	.	ENSP00000385450		CCDS33780.1			1	
UBAP2	0	LGGM	GRCh37	9	33960859	33960859	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	33	3	.	.	ENST00000379238.1:c.763G>T	p.Val255Leu	p.V255L	ENST00000379238		255	Gtg/Ttg	0	1		UPI0000140784	0	NA	ENST00000360802		ENSG00000137073	14185		36	0.455		HGNC	p.V255L		UBAP2		SNV							ENST00000379238	protein_coding	getma.org/?cm=var&var=hg19,9,33960859,C,A&fts=all		hmmpanther:PTHR16308,hmmpanther:PTHR16308:SF17		V/L		A	neutral	876/4284		getma.org/?cm=msa&ty=f&p=UBAP2_HUMAN&rb=90&re=289&var=V255L	tolerated(0.95)	Q5JV03_HUMAN				UBAP2,missense_variant,p.Val255Leu,ENST00000379238,;UBAP2,missense_variant,p.Val255Leu,ENST00000360802,NM_018449.2;UBAP2,missense_variant,p.Val255Leu,ENST00000449054,;UBAP2,missense_variant,p.Val202Leu,ENST00000418786,;UBAP2,missense_variant,p.Val202Leu,ENST00000412543,;UBAP2,missense_variant,p.Val110Leu,ENST00000421278,;UBAP2,synonymous_variant,p.=,ENST00000379239,NM_001282529.1;UBAP2,intron_variant,,ENST00000539807,;UBAP2,non_coding_transcript_exon_variant,,ENST00000462799,;							MODERATE	763/3360	V255L	UBAP2_HUMAN			Transcript		benign(0.41)	.	ENSP00000354039		CCDS6547.1			1	
SIRPG	0	LGGM	GRCh37	20	1629945	1629945	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	47	3	.	.	ENST00000303415.3:c.183G>T	p.Val61=	p.V61=	ENST00000303415	NM_018556.3	61	gtG/gtT	0	1	1	UPI00001AE5FD	0		ENST00000303415		ENSG00000089012	15757		50			HGNC	p.V61V		SIRPG		SNV							ENST00000344103	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19971,hmmpanther:PTHR19971:SF6,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		V		A		248/1716							YES	SIRPG,synonymous_variant,p.=,ENST00000381580,;SIRPG,synonymous_variant,p.=,ENST00000303415,NM_018556.3;SIRPG,synonymous_variant,p.=,ENST00000381583,NM_001039508.1;SIRPG,synonymous_variant,p.=,ENST00000344103,NM_080816.2;SIRPG,synonymous_variant,p.=,ENST00000216927,;RP11-77C3.3,downstream_gene_variant,,ENST00000456177,;							LOW	183/1164		SIRPG_HUMAN			Transcript			.	ENSP00000305529		CCDS13020.2			1	
ANKS1A	0	LGGM	GRCh37	6	34985297	34985297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	25	3	.	.	ENST00000360359.3:c.1471C>A	p.Gln491Lys	p.Q491K	ENST00000360359	NM_015245.2	491	Cag/Aag	0	1	1	UPI00001C1E4D	0	NA	ENST00000360359		ENSG00000064999	20961		28	1.245		HGNC	p.Q491K		ANKS1A		SNV							ENST00000360359	protein_coding	getma.org/?cm=var&var=hg19,6,34985297,C,A&fts=all		hmmpanther:PTHR24174		Q/K		A	low	1609/6336		getma.org/?cm=msa&ty=f&p=ANS1A_HUMAN&rb=459&re=687&var=Q491K	tolerated(0.06)				YES	ANKS1A,missense_variant,p.Gln491Lys,ENST00000360359,NM_015245.2;ANKS1A,intron_variant,,ENST00000535627,;							MODERATE	1471/3405	Q491K	ANS1A_HUMAN			Transcript		benign(0.027)	.	ENSP00000353518		CCDS4798.1			1	
ADCY6	0	LGGM	GRCh37	12	49171211	49171211	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	24	3	.	.	ENST00000307885.4:c.1230G>T	p.Arg410=	p.R410=	ENST00000307885	NM_015270.3	410	cgG/cgT	0	1	1	UPI000003EC29	0		ENST00000307885		ENSG00000174233	237		27			HGNC	p.R410R		ADCY6		SNV			1				ENST00000357869	protein_coding			Gene3D:3.30.70.1230,Pfam_domain:PF00211,PROSITE_profiles:PS50125,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF263,SMART_domains:SM00044,Superfamily_domains:SSF55073		R		A		1925/6464				Q9NR74_HUMAN,Q6LCE1_HUMAN			YES	ADCY6,synonymous_variant,p.=,ENST00000307885,NM_015270.3;ADCY6,synonymous_variant,p.=,ENST00000357869,;ADCY6,synonymous_variant,p.=,ENST00000550422,NM_020983.2;ADCY6,downstream_gene_variant,,ENST00000548820,;ADCY6,upstream_gene_variant,,ENST00000552090,;ADCY6,upstream_gene_variant,,ENST00000548351,;ADCY6,non_coding_transcript_exon_variant,,ENST00000551435,;ADCY6,upstream_gene_variant,,ENST00000547260,;ADCY6,upstream_gene_variant,,ENST00000552099,;							LOW	1230/3507		ADCY6_HUMAN			Transcript			.	ENSP00000311405		CCDS8767.1			1	
XYLB	0	LGGM	GRCh37	3	38406730	38406730	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	37	4	.	.	ENST00000207870.3:c.332C>A	p.Ala111Glu	p.A111E	ENST00000207870	NM_005108.3	111	gCa/gAa	0	1	1	UPI0000160544	0	getma.org/pdb.php?prot=XYLB_HUMAN&from=9&to=287&var=A111E	ENST00000207870		ENSG00000093217	12839		41	0.805		HGNC	p.H61N		XYLB		SNV							ENST00000424034	protein_coding	getma.org/?cm=var&var=hg19,3,38406730,C,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00370,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF57,Superfamily_domains:SSF53067		A/E		A	low	422/3664		getma.org/?cm=msa&ty=f&p=XYLB_HUMAN&rb=9&re=287&var=A111E	tolerated(0.09)	B4DDT2_HUMAN,B3KM56_HUMAN			YES	XYLB,missense_variant,p.Ala111Glu,ENST00000207870,NM_005108.3;XYLB,5_prime_UTR_variant,,ENST00000542835,;XYLB,upstream_gene_variant,,ENST00000487569,;XYLB,missense_variant,p.His61Asn,ENST00000424034,;							MODERATE	332/1611	A111E	XYLB_HUMAN			Transcript		benign(0.063)	.	ENSP00000207870		CCDS2678.1			1	
ATF5	0	LGGM	GRCh37	19	50436323	50436323	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	10	4	.	.	ENST00000423777.2:c.823C>T	p.Arg275Trp	p.R275W	ENST00000423777	NM_001193646.1	275	Cgg/Tgg	0	1	1	UPI000003842F	0	getma.org/pdb.php?prot=ATF5_HUMAN&from=270&to=282&var=R275W	ENST00000423777		ENSG00000169136	790		14	1.59		HGNC	p.R275W	rs751801694	ATF5	7.69E-05	SNV							ENST00000423777	protein_coding	getma.org/?cm=var&var=hg19,19,50436323,C,T&fts=all		hmmpanther:PTHR13044,hmmpanther:PTHR13044:SF3		R/W		T	low	1200/2069		getma.org/?cm=msa&ty=f&p=ATF5_HUMAN&rb=240&re=282&var=R275W	deleterious(0)	M0R040_HUMAN,M0QZD2_HUMAN			YES	ATF5,missense_variant,p.Arg275Trp,ENST00000423777,NM_001193646.1;ATF5,missense_variant,p.Arg275Trp,ENST00000595125,NM_012068.5;NUP62,upstream_gene_variant,,ENST00000596217,;NUP62,upstream_gene_variant,,ENST00000422090,NM_001193357.1;NUP62,upstream_gene_variant,,ENST00000413454,NM_153718.3,NM_012346.4;NUP62,upstream_gene_variant,,ENST00000352066,NM_016553.4;IL4I1,upstream_gene_variant,,ENST00000595948,NM_001258018.1;IL4I1,upstream_gene_variant,,ENST00000341114,NM_001258017.1,NM_172374.2;NUP62,upstream_gene_variant,,ENST00000597029,;NUP62,upstream_gene_variant,,ENST00000597723,;NUP62,upstream_gene_variant,,ENST00000593652,;NUP62,upstream_gene_variant,,ENST00000596437,;ATF5,downstream_gene_variant,,ENST00000597227,;IL4I1,upstream_gene_variant,,ENST00000596022,;ATF5,downstream_gene_variant,,ENST00000596658,;IL4I1,upstream_gene_variant,,ENST00000596011,;ATF5,downstream_gene_variant,,ENST00000600336,;IL4I1,upstream_gene_variant,,ENST00000597295,;NUP62,upstream_gene_variant,,ENST00000600935,;NUP62,upstream_gene_variant,,ENST00000599567,;NUP62,upstream_gene_variant,,ENST00000599788,;NUP62,upstream_gene_variant,,ENST00000594673,;NUP62,upstream_gene_variant,,ENST00000596680,;MIR4751,non_coding_transcript_exon_variant,,ENST00000578027,;NUP62,upstream_gene_variant,,ENST00000600583,;NUP62,upstream_gene_variant,,ENST00000599830,;NUP62,upstream_gene_variant,,ENST00000598301,;NUP62,upstream_gene_variant,,ENST00000595463,;NUP62,upstream_gene_variant,,ENST00000599560,;NUP62,upstream_gene_variant,,ENST00000601665,;NUP62,upstream_gene_variant,,ENST00000597814,;NUP62,upstream_gene_variant,,ENST00000599186,;CTC-326K19.6,intron_variant,,ENST00000451973,;IL4I1,upstream_gene_variant,,ENST00000601717,;							MODERATE	823/849	R275W	ATF5_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000396954	8.24E-06	CCDS12789.1			1	
PARP2	0	LGGM	GRCh37	14	20813588	20813588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	34	4	.	.	ENST00000250416.5:c.277C>A	p.Pro93Thr	p.P93T	ENST00000250416	NM_005484.3	93	Cct/Act	0	1	1	UPI0000035DCA	0	NA	ENST00000250416		ENSG00000129484	272		38	2.215		HGNC	p.P93T		PARP2		SNV							ENST00000527915	protein_coding	getma.org/?cm=var&var=hg19,14,20813588,C,A&fts=all		hmmpanther:PTHR15447,Superfamily_domains:0052256		P/T		A	medium	304/1886		getma.org/?cm=msa&ty=f&p=PARP2_HUMAN&rb=1&re=110&var=P93T	deleterious(0)	G3V167_HUMAN			YES	PARP2,missense_variant,p.Pro93Thr,ENST00000527915,;PARP2,missense_variant,p.Pro93Thr,ENST00000250416,NM_005484.3,NM_001042618.1;PARP2,missense_variant,p.Pro80Thr,ENST00000429687,;RP11-203M5.2,intron_variant,,ENST00000528210,;RPPH1,upstream_gene_variant,,ENST00000554988,;RPPH1,upstream_gene_variant,,ENST00000516869,;PARP2,missense_variant,p.Pro80Thr,ENST00000529465,;							MODERATE	277/1752	P93T	PARP2_HUMAN			Transcript		benign(0.259)	.	ENSP00000250416		CCDS41910.1			1	
PRG3	0	LGGM	GRCh37	11	57147060	57147060	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	46	4	.	.	ENST00000287143.2:c.282G>A	p.Arg94=	p.R94=	ENST00000287143	NM_006093.3	94	agG/agA	0	1	1	UPI000013DE94	0		ENST00000287143		ENSG00000156575	9363		50			HGNC	p.R94R		PRG3		SNV							ENST00000287143	protein_coding			Prints_domain:PR00770,hmmpanther:PTHR10068,hmmpanther:PTHR10068:SF8,SMART_domains:SM00034		R		T		392/869							YES	PRG3,synonymous_variant,p.=,ENST00000287143,NM_006093.3;							LOW	282/678		PRG3_HUMAN			Transcript			.	ENSP00000287143		CCDS7954.1			1	
COL27A1	0	LGGM	GRCh37	9	117068813	117068813	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	21	4	.	.	ENST00000356083.3:c.4952C>A	p.Pro1651Gln	p.P1651Q	ENST00000356083	NM_032888.2	1651	cCa/cAa	0	1	1	UPI0000062271	0	NA	ENST00000356083		ENSG00000196739	22986		25	1.39		HGNC	p.P1651Q		COL27A1		SNV							ENST00000356083	protein_coding	getma.org/?cm=var&var=hg19,9,117068813,C,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF362		P/Q		A	low	5343/7790		getma.org/?cm=msa&ty=f&p=CORA1_HUMAN&rb=1624&re=1675&var=P1651Q					YES	COL27A1,missense_variant,p.Pro1651Gln,ENST00000356083,NM_032888.2;COL27A1,non_coding_transcript_exon_variant,,ENST00000490831,;COL27A1,upstream_gene_variant,,ENST00000468565,;COL27A1,downstream_gene_variant,,ENST00000494780,;COL27A1,3_prime_UTR_variant,,ENST00000494090,;							MODERATE	4952/5583	P1651Q	CORA1_HUMAN			Transcript		unknown(0)	.	ENSP00000348385		CCDS6802.1			1	
PRKCB	0	LGGM	GRCh37	16	24185843	24185843	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	17	5	.	.	ENST00000303531.7:c.1336T>C	p.Tyr446His	p.Y446H	ENST00000303531	NM_002738.6	446	Tac/Cac	0	1		UPI000012DF67	0	getma.org/pdb.php?prot=KPCB_HUMAN&from=342&to=600&var=Y446H	ENST00000321728		ENSG00000166501	9395		22	3.235		HGNC	p.Y93H	COSM3507943,COSM3507944,COSM3507945	PRKCB		SNV						1,1,1	ENST00000472066	protein_coding	getma.org/?cm=var&var=hg19,16,24185843,T,C&fts=all		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		Y/H		C	medium	1511/2689		getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=342&re=600&var=Y446H	deleterious(0)	I3L1Z0_HUMAN				PRKCB,missense_variant,p.Tyr446His,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Tyr446His,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Tyr93His,ENST00000472066,;PRKCB,non_coding_transcript_exon_variant,,ENST00000487674,;PRKCB,non_coding_transcript_exon_variant,,ENST00000463752,;					1,1,1		MODERATE	1336/2016	Y446H	KPCB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000318315		CCDS10618.1			1	
RXFP1	0	LGGM	GRCh37	4	159569866	159569866	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	14	6	.	.	ENST00000307765.5:c.1972C>T	p.Pro658Ser	p.P658S	ENST00000307765	NM_001253728.1	658	Cca/Tca	0	1	1	UPI000013EC4B	0	getma.org/pdb.php?prot=RXFP1_HUMAN&from=422&to=681&var=P658S	ENST00000307765		ENSG00000171509	19718	9.30E-05	20	1.645		HGNC	p.P553S	rs761713060	RXFP1		SNV							ENST00000448688	protein_coding	getma.org/?cm=var&var=hg19,4,159569866,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF18,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01739		P/S		T	low	2223/3842		getma.org/?cm=msa&ty=f&p=RXFP1_HUMAN&rb=422&re=681&var=P658S	tolerated(0.09)	Q4W5D9_HUMAN,E9PCA3_HUMAN			YES	RXFP1,missense_variant,p.Pro658Ser,ENST00000307765,NM_001253728.1,NM_001253730.1,NM_001253733.1,NM_001253732.1,NM_021634.3,NM_001253727.1;RXFP1,missense_variant,p.Pro553Ser,ENST00000448688,;RXFP1,missense_variant,p.Pro577Ser,ENST00000460056,;RXFP1,missense_variant,p.Pro625Ser,ENST00000470033,;RXFP1,missense_variant,p.Pro610Ser,ENST00000343542,NM_001253729.1;RXFP1,3_prime_UTR_variant,,ENST00000342048,;RXFP1,downstream_gene_variant,,ENST00000471616,;							MODERATE	1972/2274	P658S	RXFP1_HUMAN			Transcript		benign(0.173)	.	ENSP00000303248	8.28E-06	CCDS43276.1			1	
PELI2	0	LGGM	GRCh37	14	56755315	56755315	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	15	7	.	.	ENST00000267460.4:c.470C>A	p.Ala157Asp	p.A157D	ENST00000267460	NM_021255.2	157	gCc/gAc	0	1	1	UPI0000062262	0	getma.org/pdb.php?prot=PELI2_HUMAN&from=5&to=420&var=A157D	ENST00000267460		ENSG00000139946	8828		22	3.02		HGNC	p.A157D		PELI2		SNV							ENST00000267460	protein_coding	getma.org/?cm=var&var=hg19,14,56755315,C,A&fts=all		hmmpanther:PTHR12098:SF5,hmmpanther:PTHR12098,Pfam_domain:PF04710,PIRSF_domain:PIRSF038886		A/D		A	medium	756/5909		getma.org/?cm=msa&ty=f&p=PELI2_HUMAN&rb=5&re=420&var=A157D	deleterious(0)	Q659D8_HUMAN,H0YNF4_HUMAN,H0YK56_HUMAN			YES	PELI2,missense_variant,p.Ala157Asp,ENST00000267460,NM_021255.2;PELI2,missense_variant,p.Ala57Asp,ENST00000559044,;PELI2,missense_variant,p.Ala57Asp,ENST00000561019,;							MODERATE	470/1263	A157D	PELI2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000267460		CCDS9726.1			1	
TULP4	0	LGGM	GRCh37	6	158923159	158923159	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	5	7	.	.	ENST00000367097.3:c.2464G>T	p.Ala822Ser	p.A822S	ENST00000367097	NM_020245.4	822	Gcc/Tcc	0	1	1	UPI000013CD76	0	NA	ENST00000367097		ENSG00000130338	15530		12	1.67		HGNC	p.A822S		TULP4		SNV							ENST00000367097	protein_coding	getma.org/?cm=var&var=hg19,6,158923159,G,T&fts=all		hmmpanther:PTHR16517,hmmpanther:PTHR16517:SF2		A/S		T	low	3821/11123		getma.org/?cm=msa&ty=f&p=TULP4_HUMAN&rb=671&re=1380&var=A822S	deleterious_low_confidence(0.01)				YES	TULP4,missense_variant,p.Ala822Ser,ENST00000367097,NM_020245.4;TULP4,intron_variant,,ENST00000367094,NM_001007466.2;							MODERATE	2464/4632	A822S	TULP4_HUMAN			Transcript		benign(0.174)	.	ENSP00000356064		CCDS34561.1			1	
PRPF19	0	LGGM	GRCh37	11	60666656	60666656	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	9	7	.	.	ENST00000227524.4:c.949A>G	p.Thr317Ala	p.T317A	ENST00000227524	NM_014502.4	317	Act/Gct	0	1	1	UPI000003F659	0	NA	ENST00000227524		ENSG00000110107	17896		16	2.3		HGNC	p.T317A		PRPF19		SNV							ENST00000227524	protein_coding	getma.org/?cm=var&var=hg19,11,60666656,T,C&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Pfam_domain:PF00400,Gene3D:2.130.10.10,hmmpanther:PTHR13889,PROSITE_profiles:PS50294,PROSITE_profiles:PS50231		T/A		C	medium	1155/2157		getma.org/?cm=msa&ty=f&p=PRP19_HUMAN&rb=296&re=329&var=T317A	deleterious(0)	F5H2I0_HUMAN			YES	PRPF19,missense_variant,p.Thr317Ala,ENST00000227524,NM_014502.4;PRPF19,intron_variant,,ENST00000541371,;PRPF19,intron_variant,,ENST00000540473,;PRPF19,downstream_gene_variant,,ENST00000546152,;PRPF19,upstream_gene_variant,,ENST00000535326,;PRPF19,non_coding_transcript_exon_variant,,ENST00000539960,;PRPF19,upstream_gene_variant,,ENST00000539180,;							MODERATE	949/1515	T317A	PRP19_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000227524		CCDS7995.1			1	
TG	0	LGGM	GRCh37	8	133948004	133948004	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	31	7	.	.	ENST00000220616.4:c.4936C>T	p.Arg1646Ter	p.R1646*	ENST00000220616	NM_003235.4	1646	Cga/Tga	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		38	0		HGNC	p.R1646X	rs555316512,COSM454057	TG		SNV			1			0,1	ENST00000220616	protein_coding	getma.org/?cm=var&var=hg19,8,133948004,C,T&fts=all	T:0	PIRSF_domain:PIRSF001831		R/*		T	NA	4976/8450		NA		Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN	T:0	T:0.001	YES	TG,stop_gained,p.Arg1646Ter,ENST00000220616,NM_003235.4;TG,stop_gained,p.Arg1589Ter,ENST00000377869,;TG,stop_gained,p.Arg80Ter,ENST00000542445,;TG,stop_gained,p.Arg166Ter,ENST00000519178,;TG,3_prime_UTR_variant,,ENST00000523756,;	0.000116	T:0.0002			0,1		HIGH	4936/8307	R1646*	THYG_HUMAN		T:0	Transcript			.	ENSP00000220616	8.24E-06	CCDS34944.1		T:0	1	
SHISA6	0	LGGM	GRCh37	17	11145013	11145013	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	5	8	.	.	ENST00000441885.3:c.274G>T	p.Glu92Ter	p.E92*	ENST00000441885	NM_207386.3	92	Gag/Tag	0	1		UPI000166306E	0	NA	ENST00000409168		ENSG00000188803	34491		13	0		HGNC	p.E92X		SHISA6		SNV							ENST00000409168	protein_coding	getma.org/?cm=var&var=hg19,17,11145013,G,T&fts=all		Pfam_domain:PF13908,hmmpanther:PTHR31774,hmmpanther:PTHR31774:SF0		E/*		T	NA	274/7262		NA						SHISA6,stop_gained,p.Glu92Ter,ENST00000441885,NM_207386.3;SHISA6,stop_gained,p.Glu92Ter,ENST00000432116,NM_001173462.1;SHISA6,stop_gained,p.Glu92Ter,ENST00000409168,NM_001173461.1;SHISA6,upstream_gene_variant,,ENST00000343478,;							HIGH	274/1503	E92*	SHSA6_HUMAN			Transcript			.	ENSP00000387157		CCDS54090.1			1	
CDKN1A	0	LGGM	GRCh37	6	36652020	36652020	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	8	8	.	.	ENST00000244741.5:c.142C>T	p.Arg48Ter	p.R48*	ENST00000244741	NM_000389.4	48	Cga/Tga	0	1		UPI0000048F7B	0	NA	ENST00000244741		ENSG00000124762	1784		16	0		HGNC	p.R48X	COSM1312152	CDKN1A		SNV			1			1	ENST00000373711	protein_coding	getma.org/?cm=var&var=hg19,6,36652020,C,T&fts=all		Gene3D:1jsuC00,Pfam_domain:PF02234,hmmpanther:PTHR10265:SF16,hmmpanther:PTHR10265		R/*		T	NA	288/2180		NA						CDKN1A,stop_gained,p.Arg48Ter,ENST00000405375,NM_001220778.1;CDKN1A,stop_gained,p.Arg48Ter,ENST00000244741,NM_000389.4,NM_001220777.1,NM_078467.2;CDKN1A,stop_gained,p.Arg82Ter,ENST00000448526,;CDKN1A,stop_gained,p.Arg48Ter,ENST00000373711,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000462537,;					1		HIGH	142/495	R48*	CDN1A_HUMAN			Transcript			.	ENSP00000244741		CCDS4824.1			1	
LILRA5	0	LGGM	GRCh37	19	54822857	54822857	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	24	9	.	.	ENST00000301219.3:c.539A>T	p.Lys180Met	p.K180M	ENST00000301219	NM_021250.2	180	aAg/aTg	0	1		UPI0000034C08	0	getma.org/pdb.php?prot=LIRA5_HUMAN&from=141&to=218&var=K180M	ENST00000432233		ENSG00000187116	16309		33	2.56		HGNC	p.K168M		LILRA5		SNV							ENST00000446712	protein_coding	getma.org/?cm=var&var=hg19,19,54822857,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF85,SMART_domains:SM00409,Superfamily_domains:SSF48726		K/M		A	medium	618/922		getma.org/?cm=msa&ty=f&p=LIRA5_HUMAN&rb=141&re=218&var=K180M	deleterious(0.03)					LILRA5,missense_variant,p.Lys180Met,ENST00000301219,NM_021250.2;LILRA5,missense_variant,p.Lys168Met,ENST00000346508,NM_181985.2;LILRA5,missense_variant,p.Lys168Met,ENST00000446712,NM_181986.2;LILRA5,missense_variant,p.Lys180Met,ENST00000432233,NM_181879.2;AC008984.2,intron_variant,,ENST00000507363,;LILRA5,non_coding_transcript_exon_variant,,ENST00000489504,;LILRA5,non_coding_transcript_exon_variant,,ENST00000486742,;LILRA5,non_coding_transcript_exon_variant,,ENST00000477720,;							MODERATE	539/798	K180M	LIRA5_HUMAN			Transcript		possibly_damaging(0.674)	.	ENSP00000404236		CCDS46178.1			1	
BMP7	0	LGGM	GRCh37	20	55777612	55777612	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	9	9	.	.	ENST00000395863.3:c.679G>T	p.Asp227Tyr	p.D227Y	ENST00000395863	NM_001719.2	227	Gac/Tac	0	1	1	UPI00000349AD	0	NA	ENST00000395863		ENSG00000101144	1074		18	2.915		HGNC	p.D227Y		BMP7		SNV							ENST00000395863	protein_coding	getma.org/?cm=var&var=hg19,20,55777612,C,A&fts=all		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135,Pfam_domain:PF00688		D/Y		A	medium	1185/4013		getma.org/?cm=msa&ty=f&p=BMP7_HUMAN&rb=22&re=280&var=D227Y	deleterious(0)	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN			YES	BMP7,missense_variant,p.Asp227Tyr,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Asp227Tyr,ENST00000450594,;BMP7,missense_variant,p.Asp227Tyr,ENST00000395864,;BMP7,missense_variant,p.Asp149Tyr,ENST00000433911,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000530870,;BMP7,non_coding_transcript_exon_variant,,ENST00000524700,;							MODERATE	679/1296	D227Y	BMP7_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000379204		CCDS13455.1			1	
DECR2	0	LGGM	GRCh37	16	461530	461530	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	11	9	.	.	ENST00000219481.5:c.831C>T	p.Asn277=	p.N277=	ENST00000219481	NM_020664.3	277	aaC/aaT	0	1	1	UPI000003BBDC	0		ENST00000219481		ENSG00000242612	2754		20			HGNC	p.N265N	rs756535523	DECR2		SNV				9.69E-05			ENST00000424398	protein_coding			hmmpanther:PTHR24315:SF0,hmmpanther:PTHR24315		N		T		969/1615	3.03E-05			Q9H3W9_HUMAN			YES	DECR2,synonymous_variant,p.=,ENST00000219481,NM_020664.3;DECR2,synonymous_variant,p.=,ENST00000424398,;DECR2,downstream_gene_variant,,ENST00000397710,;DECR2,intron_variant,,ENST00000461947,;DECR2,downstream_gene_variant,,ENST00000461802,;DECR2,3_prime_UTR_variant,,ENST00000437024,;DECR2,3_prime_UTR_variant,,ENST00000439661,;DECR2,3_prime_UTR_variant,,ENST00000429116,;DECR2,non_coding_transcript_exon_variant,,ENST00000461749,;NME4,downstream_gene_variant,,ENST00000444498,;DECR2,downstream_gene_variant,,ENST00000445291,;DECR2,downstream_gene_variant,,ENST00000465166,;DECR2,downstream_gene_variant,,ENST00000469922,;							LOW	831/879		DECR2_HUMAN			Transcript			.	ENSP00000219481	2.47E-05	CCDS10409.1			1	
ADPRHL2	0	LGGM	GRCh37	1	36556940	36556940	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H110451	H110451N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	5	10	.	.	ENST00000373178.4:c.307A>T	p.Arg103Ter	p.R103*	ENST00000373178	NM_017825.2	103	Aga/Tga	0	1	1	UPI0000039EBB	0	NA	ENST00000373178		ENSG00000116863	21304		15	0		HGNC	p.R103X		ADPRHL2		SNV							ENST00000373178	protein_coding	getma.org/?cm=var&var=hg19,1,36556940,A,T&fts=all		hmmpanther:PTHR16222,hmmpanther:PTHR16222:SF12,Pfam_domain:PF03747,Superfamily_domains:0043888		R/*		T	NA	337/1668		NA		B7ZAN4_HUMAN,B4DHV5_HUMAN			YES	ADPRHL2,stop_gained,p.Arg103Ter,ENST00000373178,NM_017825.2;COL8A2,downstream_gene_variant,,ENST00000397799,;COL8A2,downstream_gene_variant,,ENST00000303143,NM_005202.2;TEKT2,downstream_gene_variant,,ENST00000207457,NM_014466.2;TEKT2,downstream_gene_variant,,ENST00000473120,;TEKT2,downstream_gene_variant,,ENST00000469024,;							HIGH	307/1092	R103*	ARHL2_HUMAN			Transcript			.	ENSP00000362273		CCDS402.1			1	
TBC1D21	0	LGGM	GRCh37	15	74174009	74174009	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	12	10	.	.	ENST00000300504.2:c.193G>A	p.Glu65Lys	p.E65K	ENST00000300504	NM_153356.1	65	Gaa/Aaa	0	1	1	UPI00000741CB	0	NA	ENST00000300504		ENSG00000167139	28536		22	1.385		HGNC	p.E65K		TBC1D21		SNV							ENST00000300504	protein_coding	getma.org/?cm=var&var=hg19,15,74174009,G,A&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF258,hmmpanther:PTHR22957,Pfam_domain:PF00566,Gene3D:2qq8A02,SMART_domains:SM00164,Superfamily_domains:SSF47923		E/K		A	low	276/1207		getma.org/?cm=msa&ty=f&p=TBC21_HUMAN&rb=60&re=287&var=E65K	deleterious(0)				YES	TBC1D21,missense_variant,p.Glu65Lys,ENST00000300504,NM_153356.1;TBC1D21,missense_variant,p.Glu29Lys,ENST00000535547,NM_001286434.1;TBC1D21,missense_variant,p.Glu65Lys,ENST00000562056,;							MODERATE	193/1011	E65K	TBC21_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000300504		CCDS10252.1			1	
OR2AG1	0	LGGM	GRCh37	11	6807112	6807112	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110451	H110451N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	22	11	.	.	ENST00000307401.4:c.844A>G	p.Thr282Ala	p.T282A	ENST00000307401	NM_001004489.2	282	Act/Gct	0	1	1	UPI00000015AF	0	NA	ENST00000307401		ENSG00000170803	15142		33	2.15		HGNC	p.T282A		OR2AG1		SNV							ENST00000307401	protein_coding	getma.org/?cm=var&var=hg19,11,6807112,A,G&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF183,PROSITE_profiles:PS50262		T/A		G	medium	865/998		getma.org/?cm=msa&ty=f&p=O2AG1_HUMAN&rb=139&re=283&var=T282A	deleterious(0.01)				YES	OR2AG1,missense_variant,p.Thr282Ala,ENST00000307401,NM_001004489.2;							MODERATE	844/951	T282A	O2AG1_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000307447		CCDS31414.1			1	
UGT1A10	0	LGGM	GRCh37	2	234545848	234545848	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	196	12	.	.	ENST00000344644.5:c.680C>T	p.Ala227Val	p.A227V	ENST00000344644	NM_019075.2	227	gCc/gTc	0	1	1	UPI000006D7E8	0	NA	ENST00000344644		ENSG00000242515	12531		208	0.845		HGNC	p.A227V		UGT1A10		SNV							ENST00000373445	protein_coding	getma.org/?cm=var&var=hg19,2,234545848,C,T&fts=all		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Superfamily_domains:SSF53756		A/V		T	low	749/2408		getma.org/?cm=msa&ty=f&p=UD110_HUMAN&rb=26&re=521&var=A227V	deleterious(0.05)	Q5DT02_HUMAN,Q13406_HUMAN			YES	UGT1A10,missense_variant,p.Ala227Val,ENST00000344644,NM_019075.2;UGT1A10,missense_variant,p.Ala227Val,ENST00000373445,;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;							MODERATE	680/1593	A227V	UD110_HUMAN			Transcript		benign(0.019)	.	ENSP00000343838		CCDS33403.1			1	
TOPAZ1	0	LGGM	GRCh37	3	44284617	44284617	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	24	13	.	.	ENST00000309765.4:c.619C>G	p.Pro207Ala	p.P207A	ENST00000309765	NM_001145030.1	207	Cca/Gca	0	1	1	UPI000047FF75	0	NA	ENST00000309765		ENSG00000173769	24746		37	0.55		HGNC	p.P207A		TOPAZ1		SNV							ENST00000309765	protein_coding	getma.org/?cm=var&var=hg19,3,44284617,C,G&fts=all				P/A		G	neutral	787/5334		getma.org/?cm=msa&ty=f&p=TOPZ1_HUMAN&rb=201&re=400&var=P207A	tolerated(0.36)				YES	TOPAZ1,missense_variant,p.Pro207Ala,ENST00000309765,NM_001145030.1;							MODERATE	619/5079	P207A	TOPZ1_HUMAN			Transcript		benign(0.234)	.	ENSP00000310303		CCDS46809.1			1	
TESK1	0	LGGM	GRCh37	9	35609180	35609180	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	23	13	.	.	ENST00000336395.5:c.1322C>T	p.Ser441Phe	p.S441F	ENST00000336395	NM_006285.2	441	tCc/tTc	0	1	1	UPI0000074302	0	NA	ENST00000336395		ENSG00000107140	11731		36	1.625		HGNC	p.S441F		TESK1		SNV							ENST00000336395	protein_coding	getma.org/?cm=var&var=hg19,9,35609180,C,T&fts=all		hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257		S/F		T	low	1572/2421		getma.org/?cm=msa&ty=f&p=TESK1_HUMAN&rb=312&re=450&var=S441F	deleterious(0.03)	Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN			YES	TESK1,missense_variant,p.Ser441Phe,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,;							MODERATE	1322/1881	S441F	TESK1_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000338127		CCDS6580.1			1	
GRIN2A	0	LGGM	GRCh37	16	9857204	9857204	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	29	13	.	.	ENST00000330684.3:c.4197C>T	p.Ser1399=	p.S1399=	ENST00000330684	NM_001134407.1	1399	agC/agT	0	1		UPI000000D7AB	0		ENST00000330684		ENSG00000183454	4585		42			HGNC	p.S1399S		GRIN2A		SNV			1				ENST00000396575	protein_coding			Pfam_domain:PF10565		S		A		4745/5031				Q547U9_HUMAN				GRIN2A,synonymous_variant,p.=,ENST00000396573,NM_000833.3;GRIN2A,synonymous_variant,p.=,ENST00000330684,NM_001134407.1;GRIN2A,synonymous_variant,p.=,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,;							LOW	4197/4395		NMDE1_HUMAN			Transcript			.	ENSP00000332549		CCDS10539.1			1	
DNAH17	0	LGGM	GRCh37	17	76455881	76455881	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	31	14	.	.	ENST00000389840.5:c.9596G>A	p.Cys3199Tyr	p.C3199Y	ENST00000389840		3199	tGc/tAc	0	1	1	UPI0001A5EE11	0	getma.org/pdb.php?prot=DYH17_HUMAN&from=3029&to=3372&var=C3199Y	ENST00000389840		ENSG00000187775	2946		45	2.07		HGNC	p.C3199Y		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76455881,C,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12777		C/Y		T	medium	9721/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=3029&re=3372&var=C3199Y					YES	DNAH17,missense_variant,p.Cys3199Tyr,ENST00000389840,;DNAH17,missense_variant,p.Cys3208Tyr,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,upstream_gene_variant,,ENST00000592152,;DNAH17,missense_variant,p.Cys414Tyr,ENST00000591369,;							MODERATE	9596/13458	C3199Y	DYH17_HUMAN			Transcript		benign(0.33)	.	ENSP00000374490					1	
CCNB1IP1	0	LGGM	GRCh37	14	20784449	20784449	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	35	14	.	.	ENST00000398169.3:c.234A>G	p.Ala78=	p.A78=	ENST00000398169		78	gcA/gcG	0	1		UPI000000CBC0	0		ENST00000353689		ENSG00000100814	19437		49			HGNC	p.A78A		CCNB1IP1		SNV							ENST00000398169	protein_coding			hmmpanther:PTHR14305		A		C		509/1288				G3V5S3_HUMAN				CCNB1IP1,synonymous_variant,p.=,ENST00000398169,;CCNB1IP1,synonymous_variant,p.=,ENST00000437553,NM_182852.3;CCNB1IP1,synonymous_variant,p.=,ENST00000398160,;CCNB1IP1,synonymous_variant,p.=,ENST00000398163,;CCNB1IP1,synonymous_variant,p.=,ENST00000358932,NM_021178.4;CCNB1IP1,synonymous_variant,p.=,ENST00000557665,;CCNB1IP1,synonymous_variant,p.=,ENST00000353689,NM_182849.2;CCNB1IP1,downstream_gene_variant,,ENST00000556563,;CCNB1IP1,downstream_gene_variant,,ENST00000553291,;CCNB1IP1,downstream_gene_variant,,ENST00000553516,;CCNB1IP1,downstream_gene_variant,,ENST00000555348,;CCNB1IP1,synonymous_variant,p.=,ENST00000556854,;CCNB1IP1,synonymous_variant,p.=,ENST00000554047,;CCNB1IP1,upstream_gene_variant,,ENST00000554184,;							LOW	234/834		CIP1_HUMAN			Transcript			.	ENSP00000337396		CCDS9547.1			1	
SHPRH	0	LGGM	GRCh37	6	146264842	146264842	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	49	15	.	.	ENST00000367505.2:c.1675G>T	p.Asp559Tyr	p.D559Y	ENST00000367505		559	Gat/Tat	0	1		UPI0000458A24	0	NA	ENST00000275233		ENSG00000146414	19336		64	0.69		HGNC	p.D448Y		SHPRH		SNV							ENST00000519632	protein_coding	getma.org/?cm=var&var=hg19,6,146264842,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552,Pfam_domain:PF00176,SMART_domains:SM00487		D/Y		A	neutral	2074/6649		getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=307&re=987&var=D559Y	deleterious_low_confidence(0.01)					SHPRH,missense_variant,p.Asp559Tyr,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Asp559Tyr,ENST00000367505,;SHPRH,missense_variant,p.Asp559Tyr,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Asp559Tyr,ENST00000275233,;SHPRH,missense_variant,p.Asp448Tyr,ENST00000519632,;SHPRH,3_prime_UTR_variant,,ENST00000433355,;SHPRH,downstream_gene_variant,,ENST00000521977,;							MODERATE	1675/5052	D559Y	SHPRH_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000275233		CCDS43513.2			1	
CNOT1	0	LGGM	GRCh37	16	58617046	58617046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	7	16	.	.	ENST00000317147.5:c.847C>T	p.Arg283Trp	p.R283W	ENST00000317147	NM_016284.4	283	Cgg/Tgg	0	1	1	UPI00001FF2F6	0	NA	ENST00000317147		ENSG00000125107	7877		23	2.015		HGNC	p.R283W		CNOT1		SNV							ENST00000569240	protein_coding	getma.org/?cm=var&var=hg19,16,58617046,G,A&fts=all		hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162		R/W		A	medium	1180/8471		getma.org/?cm=msa&ty=f&p=CNOT1_HUMAN&rb=201&re=400&var=R283W	deleterious(0.01)	H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN			YES	CNOT1,missense_variant,p.Arg283Trp,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,missense_variant,p.Arg283Trp,ENST00000569240,;CNOT1,missense_variant,p.Arg283Trp,ENST00000441024,NM_206999.2;CNOT1,missense_variant,p.Arg283Trp,ENST00000567188,;CNOT1,intron_variant,,ENST00000565605,;							MODERATE	847/7131	R283W	CNOT1_HUMAN			Transcript		possibly_damaging(0.891)	.	ENSP00000320949		CCDS10799.1			1	
AKAP9	0	LGGM	GRCh37	7	91713975	91713975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	48	17	.	.	ENST00000356239.3:c.8668G>A	p.Ala2890Thr	p.A2890T	ENST00000356239	NM_147185.2	2890	Gca/Aca	0	1	1	UPI000002A38D	0	NA	ENST00000356239		ENSG00000127914	379		65	0.205		HGNC	p.A736T		AKAP9		SNV			1				ENST00000394534	protein_coding	getma.org/?cm=var&var=hg19,7,91713975,G,A&fts=all		hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10		A/T		A	neutral	8901/12471		getma.org/?cm=msa&ty=f&p=AKAP9_HUMAN&rb=2422&re=3699&var=C2902T		Q8IW64_HUMAN			YES	AKAP9,missense_variant,p.Ala2890Thr,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Ala736Thr,ENST00000394534,;AKAP9,missense_variant,p.Ala35Thr,ENST00000435423,;AKAP9,intron_variant,,ENST00000359028,;AKAP9,intron_variant,,ENST00000358100,;							MODERATE	8668/11724	C2902T	AKAP9_HUMAN			Transcript		benign(0)	.	ENSP00000348573		CCDS5622.1			1	
EFCAB6	0	LGGM	GRCh37	22	43926831	43926831	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	18	17	.	.	ENST00000262726.7:c.4247C>T	p.Ala1416Val	p.A1416V	ENST00000262726	NM_022785.3	1416	gCg/gTg	0	1	1	UPI0000225CD7	0	NA	ENST00000262726		ENSG00000186976	24204		35	1.7		HGNC	p.A1264V	rs773235865	EFCAB6		SNV							ENST00000396231	protein_coding	getma.org/?cm=var&var=hg19,22,43926831,G,A&fts=all		hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF220		A/V		A	low	4501/4869	1.51E-05	getma.org/?cm=msa&ty=f&p=EFCB6_HUMAN&rb=1327&re=1426&var=A1416V	tolerated(0.66)				YES	EFCAB6,missense_variant,p.Ala1416Val,ENST00000262726,NM_022785.3;EFCAB6,missense_variant,p.Ala1264Val,ENST00000396231,NM_198856.2;EFCAB6-AS1,intron_variant,,ENST00000431327,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000461800,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000483324,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000477145,;							MODERATE	4247/4506	A1416V	EFCB6_HUMAN			Transcript		benign(0.037)	.	ENSP00000262726	8.24E-06	CCDS14049.1			1	
ALK	0	LGGM	GRCh37	2	29416535	29416535	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	35	17	.	.	ENST00000389048.3:c.4418G>C	p.Gly1473Ala	p.G1473A	ENST00000389048	NM_004304.4	1473	gGg/gCg	0	1	1	UPI00001684DA	0	NA	ENST00000389048		ENSG00000171094	427		52	1.79		HGNC	p.G1473A		ALK		SNV			1				ENST00000389048	protein_coding	getma.org/?cm=var&var=hg19,2,29416535,C,G&fts=all		hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF276		G/A		G	low	5325/6220		getma.org/?cm=msa&ty=f&p=ALK_HUMAN&rb=1422&re=1618&var=G1473A	deleterious(0.03)	Q580I3_HUMAN			YES	ALK,missense_variant,p.Gly1473Ala,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Gly303Ala,ENST00000431873,;CLIP4,downstream_gene_variant,,ENST00000401617,;							MODERATE	4418/4863	G1473A	ALK_HUMAN			Transcript		benign(0.011)	.	ENSP00000373700		CCDS33172.1			1	
XPO1	0	LGGM	GRCh37	2	61720070	61720070	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	39	18	.	.	ENST00000401558.2:c.1364A>T	p.Lys455Met	p.K455M	ENST00000401558	NM_003400.3	455	aAg/aTg	0	1	1	UPI0000001C23	0	getma.org/pdb.php?prot=XPO1_HUMAN&from=269&to=468&var=K455M	ENST00000401558		ENSG00000082898	12825		57	3.205		HGNC	p.K455M		XPO1		SNV							ENST00000401558	protein_coding	getma.org/?cm=var&var=hg19,2,61720070,T,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR11223,Superfamily_domains:SSF48371		K/M		A	medium	2092/4915		getma.org/?cm=msa&ty=f&p=XPO1_HUMAN&rb=269&re=468&var=K455M	deleterious(0)	C9JV99_HUMAN,C9JQ02_HUMAN,C9JKM9_HUMAN,C9JF49_HUMAN,C9J673_HUMAN,C9IZS4_HUMAN,C9IYM2_HUMAN,B7ZB16_HUMAN,B3KWD0_HUMAN			YES	XPO1,missense_variant,p.Lys455Met,ENST00000401558,NM_003400.3;XPO1,missense_variant,p.Lys455Met,ENST00000404992,;XPO1,missense_variant,p.Lys455Met,ENST00000406957,;XPO1,upstream_gene_variant,,ENST00000494468,;XPO1,3_prime_UTR_variant,,ENST00000428210,;XPO1,non_coding_transcript_exon_variant,,ENST00000481073,;XPO1,non_coding_transcript_exon_variant,,ENST00000469337,;XPO1,upstream_gene_variant,,ENST00000461407,;XPO1,downstream_gene_variant,,ENST00000460037,;XPO1,downstream_gene_variant,,ENST00000437159,;XPO1,downstream_gene_variant,,ENST00000475744,;							MODERATE	1364/3216	K455M	XPO1_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000384863		CCDS33205.1			1	
OR10Q1	0	LGGM	GRCh37	11	57996082	57996082	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110451	H110451N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	19	19	.	.	ENST00000316770.2:c.266T>A	p.Ile89Asn	p.I89N	ENST00000316770	NM_001004471.2	89	aTt/aAt	0	1	1	UPI0000041C4C	0	getma.org/pdb.php?prot=O10Q1_HUMAN&from=1&to=142&var=I89N	ENST00000316770		ENSG00000180475	15134		38	2.66		HGNC	p.I89N		OR10Q1		SNV							ENST00000316770	protein_coding	getma.org/?cm=var&var=hg19,11,57996082,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF253,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		I/N		T	medium	309/1037		getma.org/?cm=msa&ty=f&p=O10Q1_HUMAN&rb=1&re=142&var=I89N	deleterious(0.02)				YES	OR10Q1,missense_variant,p.Ile89Asn,ENST00000316770,NM_001004471.2;							MODERATE	266/960	I89N	O10Q1_HUMAN			Transcript		possibly_damaging(0.563)	.	ENSP00000314324		CCDS31547.1			1	
MKI67	0	LGGM	GRCh37	10	129904847	129904847	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	24	20	.	.	ENST00000368654.3:c.5257C>A	p.Pro1753Thr	p.P1753T	ENST00000368654	NM_002417.4	1753	Cca/Aca	0	1	1	UPI000013DB54	0	NA	ENST00000368654		ENSG00000148773	7107		44	0.69		HGNC	p.P1393T		MKI67		SNV							ENST00000368653	protein_coding	getma.org/?cm=var&var=hg19,10,129904847,G,T&fts=all		hmmpanther:PTHR21603,hmmpanther:PTHR21603:SF3,Pfam_domain:PF08065		P/T		T	neutral	5633/12678		getma.org/?cm=msa&ty=f&p=KI67_HUMAN&rb=1732&re=1843&var=P1753T	tolerated(0.47)				YES	MKI67,missense_variant,p.Pro1753Thr,ENST00000368654,NM_002417.4;MKI67,missense_variant,p.Pro1393Thr,ENST00000368653,NM_001145966.1;MKI67,downstream_gene_variant,,ENST00000484853,;MKI67,upstream_gene_variant,,ENST00000464771,;							MODERATE	5257/9771	P1753T	KI67_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000357643		CCDS7659.1			1	
TIGD4	0	LGGM	GRCh37	4	153691800	153691800	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	55	22	.	.	ENST00000304337.2:c.357G>A	p.Gln119=	p.Q119=	ENST00000304337	NM_145720.3	119	caG/caA	0	1	1	UPI000013E966	0		ENST00000304337		ENSG00000169989	18335		77			HGNC	p.Q119Q		TIGD4		SNV							ENST00000304337	protein_coding			PROSITE_profiles:PS51253,hmmpanther:PTHR19303,hmmpanther:PTHR19303:SF204,Gene3D:1.10.10.60,Pfam_domain:PF03221,SMART_domains:SM00674,Superfamily_domains:SSF46689		Q		T		1178/2472							YES	TIGD4,synonymous_variant,p.=,ENST00000304337,NM_145720.3;							LOW	357/1539		TIGD4_HUMAN			Transcript			.	ENSP00000355162		CCDS34079.1			1	
UPB1	0	LGGM	GRCh37	22	24898404	24898404	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	49	22	.	.	ENST00000326010.5:c.364+223G>A		*122*	ENST00000326010	NM_016327.2			0	1	1	UPI0000126B4C	0		ENST00000326010		ENSG00000100024	16297		71			HGNC	p.R155H	rs373444527	UPB1		SNV	A:0.0011		1	0.000442			ENST00000382760	protein_coding						A:0	A		-/2290	4.67E-05			A4QPH4_HUMAN			YES	UPB1,missense_variant,p.Arg155His,ENST00000382760,;UPB1,intron_variant,,ENST00000413389,;UPB1,intron_variant,,ENST00000326010,NM_016327.2;UPB1,intron_variant,,ENST00000415388,;							MODIFIER	-/1155		BUP1_HUMAN			Transcript			common_variant	ENSP00000324343	5.78E-05	CCDS13827.1			1	
CDHR2	0	LGGM	GRCh37	5	176022555	176022555	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	25	22	.	.	ENST00000510636.1:c.3815C>A	p.Pro1272Gln	p.P1272Q	ENST00000510636	NM_001171976.1	1272	cCa/cAa	0	1		UPI0000DBEE8C	0	NA	ENST00000261944		ENSG00000074276	18231		47	1.59		HGNC	p.P1272Q		CDHR2		SNV							ENST00000261944	protein_coding	getma.org/?cm=var&var=hg19,5,176022555,C,A&fts=all		Low_complexity_(Seg):seg		P/Q		A	low	3854/4068		getma.org/?cm=msa&ty=f&p=CDHR2_HUMAN&rb=1242&re=1310&var=P1272Q	tolerated(0.26)					CDHR2,missense_variant,p.Pro1272Gln,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Pro1272Gln,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Pro1272Gln,ENST00000506348,;GPRIN1,downstream_gene_variant,,ENST00000303991,NM_052899.2;CDHR2,downstream_gene_variant,,ENST00000513031,;CDHR2,downstream_gene_variant,,ENST00000416365,;							MODERATE	3815/3933	P1272Q	CDHR2_HUMAN			Transcript		benign(0.003)	.	ENSP00000261944		CCDS34297.1			1	
PCDHB7	0	LGGM	GRCh37	5	140553408	140553408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	21	22	.	.	ENST00000231137.3:c.992G>T	p.Cys331Phe	p.C331F	ENST00000231137	NM_018940.2	331	tGc/tTc	0	1	1	UPI00001273E3	0	getma.org/pdb.php?prot=PCDB7_HUMAN&from=247&to=338&var=C331F	ENST00000231137		ENSG00000113212	8692		43	3.035		HGNC	p.C331F		PCDHB7		SNV							ENST00000231137	protein_coding	getma.org/?cm=var&var=hg19,5,140553408,G,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF69,SMART_domains:SM00112,Superfamily_domains:SSF49313		C/F		T	medium	1166/3715		getma.org/?cm=msa&ty=f&p=PCDB7_HUMAN&rb=247&re=338&var=C331F	deleterious_low_confidence(0)				YES	PCDHB7,missense_variant,p.Cys331Phe,ENST00000231137,NM_018940.2;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3;							MODERATE	992/2382	C331F	PCDB7_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000231137		CCDS4249.1			1	
ACPP	0	LGGM	GRCh37	3	132075600	132075600	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	55	24	.	.	ENST00000351273.7:c.1039T>C	p.Cys347Arg	p.C347R	ENST00000351273	NM_001134194.1	347	Tgc/Cgc	0	1		UPI0000039832	0	getma.org/pdb.php?prot=PPAP_HUMAN&from=333&to=386&var=C347R	ENST00000336375		ENSG00000014257	125		79	3.425		HGNC	p.C347R		ACPP		SNV							ENST00000351273	protein_coding	getma.org/?cm=var&var=hg19,3,132075600,T,C&fts=all		Gene3D:3.40.50.1240,hmmpanther:PTHR11567,hmmpanther:PTHR11567:SF32,Superfamily_domains:SSF53254		C/R		C	medium	1129/3125		getma.org/?cm=msa&ty=f&p=PPAP_HUMAN&rb=333&re=386&var=C347R	deleterious(0)	Q6LBH1_HUMAN				ACPP,missense_variant,p.Cys347Arg,ENST00000336375,NM_001099.4;ACPP,missense_variant,p.Cys347Arg,ENST00000351273,NM_001134194.1;ACPP,missense_variant,p.Cys314Arg,ENST00000475741,;ACPP,missense_variant,p.Cys32Arg,ENST00000507647,;ACPP,downstream_gene_variant,,ENST00000512463,;							MODERATE	1039/1161	C347R	PPAP_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337471		CCDS3073.1			1	
AHDC1	0	LGGM	GRCh37	1	27873863	27873863	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	31	25	.	.	ENST00000374011.2:c.4764C>A	p.Pro1588=	p.P1588=	ENST00000374011	NM_001029882.2	1588	ccC/ccA	0	1		UPI0000418EA1	0		ENST00000247087		ENSG00000126705	25230		56			HGNC	p.P1588P		AHDC1		SNV			1				ENST00000374011	protein_coding			hmmpanther:PTHR15617,hmmpanther:PTHR15617:SF1,Low_complexity_(Seg):seg		P		T		5361/6334								AHDC1,synonymous_variant,p.=,ENST00000374011,NM_001029882.2;AHDC1,synonymous_variant,p.=,ENST00000247087,;AHDC1,downstream_gene_variant,,ENST00000487743,;							LOW	4764/4812		AHDC1_HUMAN			Transcript			.	ENSP00000247087		CCDS30652.1			1	
CHAF1B	0	LGGM	GRCh37	21	37783813	37783813	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	64	26	.	.	ENST00000314103.5:c.972G>A	p.Glu324=	p.E324=	ENST00000314103	NM_005441.2	324	gaG/gaA	0	1	1	UPI0000126DD1	0		ENST00000314103		ENSG00000159259	1911		90			HGNC	p.E324E		CHAF1B		SNV							ENST00000314103	protein_coding			hmmpanther:PTHR15271,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		E		A		1123/4480							YES	CHAF1B,synonymous_variant,p.=,ENST00000314103,NM_005441.2;CHAF1B,non_coding_transcript_exon_variant,,ENST00000481458,;							LOW	972/1680		CAF1B_HUMAN			Transcript			.	ENSP00000315700		CCDS13644.1			1	
CELF1	0	LGGM	GRCh37	11	47505973	47505973	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	28	28	.	.	ENST00000532048.1:c.491G>C	p.Arg164Pro	p.R164P	ENST00000532048	NM_001172639.1	164	cGg/cCg	0	1		UPI00001286E2	0	getma.org/pdb.php?prot=CELF1_HUMAN&from=110&to=178&var=R138P	ENST00000358597		ENSG00000149187	2549		56	2.925		HGNC	p.R137P		CELF1		SNV							ENST00000395290	protein_coding	getma.org/?cm=var&var=hg19,11,47505973,C,G&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24622:SF179,hmmpanther:PTHR24622,Gene3D:3.30.70.330,Pfam_domain:PF00076,SMART_domains:SM00360,Superfamily_domains:SSF54928		R/P		G	medium	413/2108		getma.org/?cm=msa&ty=f&p=CELF1_HUMAN&rb=110&re=178&var=R138P	tolerated(0.11)	F5H4Y5_HUMAN,E9PSH0_HUMAN,E9PQK4_HUMAN,E9PKA1_HUMAN				CELF1,missense_variant,p.Arg137Pro,ENST00000395290,NM_001172640.1,NM_001025596.2;CELF1,missense_variant,p.Arg165Pro,ENST00000531165,;CELF1,missense_variant,p.Arg164Pro,ENST00000532048,NM_001172639.1;CELF1,missense_variant,p.Arg138Pro,ENST00000395292,NM_198700.2;CELF1,missense_variant,p.Arg138Pro,ENST00000310513,NM_006560.3;CELF1,missense_variant,p.Arg138Pro,ENST00000358597,;CELF1,missense_variant,p.Arg138Pro,ENST00000361904,;CELF1,downstream_gene_variant,,ENST00000525841,;CELF1,downstream_gene_variant,,ENST00000530151,;CELF1,downstream_gene_variant,,ENST00000528538,;CELF1,downstream_gene_variant,,ENST00000543178,;CELF1,downstream_gene_variant,,ENST00000526277,;CELF1,downstream_gene_variant,,ENST00000535982,;CELF1,downstream_gene_variant,,ENST00000528434,;CELF1,downstream_gene_variant,,ENST00000526419,;AC090559.1,downstream_gene_variant,,ENST00000578625,;CELF1,non_coding_transcript_exon_variant,,ENST00000422993,;CELF1,upstream_gene_variant,,ENST00000532146,;							MODERATE	413/1461	R138P	CELF1_HUMAN			Transcript		benign(0.046)	.	ENSP00000351409		CCDS31482.1			1	
ZNF655	0	LGGM	GRCh37	7	99158277	99158277	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110451	H110451N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	32	29	.	.	ENST00000424881.1:c.95A>C	p.Gln32Pro	p.Q32P	ENST00000424881	NM_001085368.1	32	cAg/cCg	0	1		UPI0000070B32	0	NA	ENST00000252713		ENSG00000197343	30899		61	0.695		HGNC	p.Q32P		ZNF655		SNV							ENST00000424881	protein_coding	getma.org/?cm=var&var=hg19,7,99158277,A,C&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF284		Q/P		C	neutral	332/2535		getma.org/?cm=msa&ty=f&p=ZN655_HUMAN&rb=1&re=43&var=Q32P	tolerated(0.26)	Q68DU4_HUMAN				ZNF655,missense_variant,p.Gln32Pro,ENST00000424881,NM_001085368.1,NM_001083956.1;ZNF655,missense_variant,p.Gln32Pro,ENST00000425063,;ZNF655,missense_variant,p.Gln32Pro,ENST00000394163,NM_001009960.1,NM_138494.2;ZNF655,missense_variant,p.Gln32Pro,ENST00000252713,;ZNF655,missense_variant,p.Gln32Pro,ENST00000493277,;ZNF655,missense_variant,p.Gln32Pro,ENST00000320583,NM_024061.3,NM_001085367.1;ZNF655,missense_variant,p.Gln32Pro,ENST00000357864,NM_001085366.1;ZNF655,missense_variant,p.Gln32Pro,ENST00000440391,NM_001009958.1;ZNF655,missense_variant,p.Gln32Pro,ENST00000422164,;ZNF655,missense_variant,p.Gln32Pro,ENST00000422647,;ZNF655,missense_variant,p.Gln32Pro,ENST00000454654,;ZNF655,missense_variant,p.Gln32Pro,ENST00000427931,;ZNF655,missense_variant,p.Gln32Pro,ENST00000452314,;ZNF655,missense_variant,p.Gln32Pro,ENST00000449244,;FAM200A,upstream_gene_variant,,ENST00000408938,;GS1-259H13.10,non_coding_transcript_exon_variant,,ENST00000486324,;ZNF655,missense_variant,p.Gln32Pro,ENST00000416144,;ZNF655,missense_variant,p.Gln32Pro,ENST00000423973,;GS1-259H13.10,missense_variant,p.Gln32Pro,ENST00000455905,;ZNF655,missense_variant,p.Gln32Pro,ENST00000422422,;ZNF655,missense_variant,p.Gln32Pro,ENST00000412636,;ZNF655,non_coding_transcript_exon_variant,,ENST00000467680,;ZNF655,non_coding_transcript_exon_variant,,ENST00000488751,;ZNF655,non_coding_transcript_exon_variant,,ENST00000489320,;ZNF655,non_coding_transcript_exon_variant,,ENST00000493947,;							MODERATE	95/1476	Q32P	ZN655_HUMAN			Transcript		benign(0.001)	.	ENSP00000252713		CCDS5669.1			1	
PHF10	0	LGGM	GRCh37	6	170114892	170114892	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	50	29	.	.	ENST00000339209.4:c.740G>C	p.Arg247Pro	p.R247P	ENST00000339209	NM_133325.2	247	cGa/cCa	0	1	1	UPI0000EE1F6E	0	NA	ENST00000339209		ENSG00000130024	18250		79	1.245		HGNC	p.R245P		PHF10		SNV							ENST00000366780	protein_coding	getma.org/?cm=var&var=hg19,6,170114892,C,G&fts=all		hmmpanther:PTHR10615		R/P		G	low	864/1719		getma.org/?cm=msa&ty=f&p=PHF10_HUMAN&rb=15&re=368&var=R247P	tolerated(0.25)	S5FMB0_HUMAN			YES	PHF10,missense_variant,p.Arg247Pro,ENST00000339209,NM_133325.2,NM_018288.3;PHF10,missense_variant,p.Arg245Pro,ENST00000366780,;PHF10,downstream_gene_variant,,ENST00000464779,;PHF10,intron_variant,,ENST00000480008,;							MODERATE	740/1497	R247P	PHF10_HUMAN			Transcript		benign(0.264)	.	ENSP00000341805		CCDS5308.2			1	
FAM26E	0	LGGM	GRCh37	6	116837018	116837018	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	42	34	.	.	ENST00000368599.3:c.796T>A	p.Ser266Thr	p.S266T	ENST00000368599	NM_153711.2	266	Tca/Aca	0	1	1	UPI0000072525	0	NA	ENST00000368599		ENSG00000178033	21568		76	2		HGNC	p.S266T		FAM26E		SNV							ENST00000368599	protein_coding	getma.org/?cm=var&var=hg19,6,116837018,T,A&fts=all		hmmpanther:PTHR32261:SF4,hmmpanther:PTHR32261		S/T		A	medium	847/9784		getma.org/?cm=msa&ty=f&p=FA26E_HUMAN&rb=1&re=306&var=S266T	deleterious(0)				YES	FAM26E,missense_variant,p.Ser266Thr,ENST00000368599,NM_153711.2;TRAPPC3L,intron_variant,,ENST00000368602,NM_001139444.2;TRAPPC3L,intron_variant,,ENST00000437098,;TRAPPC3L,upstream_gene_variant,,ENST00000356128,;							MODERATE	796/930	S266T	FA26E_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000357588		CCDS5108.1			1	
PRDM9	0	LGGM	GRCh37	5	23527470	23527470	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110451	H110451N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	54	37	.	.	ENST00000296682.3:c.2273G>A	p.Arg758His	p.R758H	ENST00000296682	NM_020227.2	758	cGc/cAc	0	1	1	UPI00006C9E90	0	getma.org/pdb.php?prot=PRDM9_HUMAN&from=734&to=758&var=R758H	ENST00000296682		ENSG00000164256	13994		91	1.18		HGNC	p.R758H	COSM125571	PRDM9		SNV						1	ENST00000296682	protein_coding	getma.org/?cm=var&var=hg19,5,23527470,G,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF21,PROSITE_profiles:PS50157		R/H		A	low	2455/3691		getma.org/?cm=msa&ty=f&p=PRDM9_HUMAN&rb=714&re=778&var=R758H	deleterious(0.01)	D6RD68_HUMAN,D2KI85_HUMAN,D2E453_HUMAN			YES	PRDM9,missense_variant,p.Arg758His,ENST00000296682,NM_020227.2;					1		MODERATE	2273/2685	R758H	PRDM9_HUMAN			Transcript		possibly_damaging(0.648)	.	ENSP00000296682		CCDS43307.1			1	
ELAC2	0	LGGM	GRCh37	17	12920243	12920243	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	26	39	.	.	ENST00000338034.4:c.303G>A	p.Lys101=	p.K101=	ENST00000338034	NM_018127.6	101	aaG/aaA	0	1	1	UPI000004A07E	0		ENST00000338034		ENSG00000006744	14198		65			HGNC	p.K101K	rs777807535	ELAC2		SNV			1				ENST00000426905	protein_coding			Gene3D:3.60.15.10,Pfam_domain:PF13691,hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44,Superfamily_domains:SSF56281		K		T		543/3148				Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN			YES	ELAC2,synonymous_variant,p.=,ENST00000338034,NM_018127.6,NM_173717.1;ELAC2,synonymous_variant,p.=,ENST00000395962,;ELAC2,synonymous_variant,p.=,ENST00000426905,NM_001165962.1;ELAC2,synonymous_variant,p.=,ENST00000609101,;ELAC2,synonymous_variant,p.=,ENST00000609757,;ELAC2,synonymous_variant,p.=,ENST00000581499,;ELAC2,synonymous_variant,p.=,ENST00000580504,;ELAC2,synonymous_variant,p.=,ENST00000578071,;ELAC2,synonymous_variant,p.=,ENST00000583371,;ELAC2,upstream_gene_variant,,ENST00000584650,;ELAC2,splice_acceptor_variant,,ENST00000609345,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;	0.000231						LOW	303/2481		RNZ2_HUMAN			Transcript			.	ENSP00000337445	1.65E-05	CCDS11164.1			1	
AMHR2	0	LGGM	GRCh37	12	53824001	53824001	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	77	51	.	.	ENST00000257863.4:c.1360T>C	p.Trp454Arg	p.W454R	ENST00000257863	NM_001164690.1	454	Tgg/Cgg	0	1	1	UPI0000125970	0		ENST00000257863		ENSG00000135409	465		128			HGNC	p.W151R		AMHR2		SNV			1				ENST00000550839	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF00069,PIRSF_domain:PIRSF037392,PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF49,Superfamily_domains:SSF56112		W/R		C		1440/1863			tolerated(0.88)	H3BPI9_HUMAN			YES	AMHR2,missense_variant,p.Trp454Arg,ENST00000257863,NM_001164690.1,NM_020547.2;AMHR2,missense_variant,p.Trp151Arg,ENST00000550839,;AMHR2,synonymous_variant,p.=,ENST00000550311,;AMHR2,intron_variant,,ENST00000379791,NM_001164691.1;AMHR2,non_coding_transcript_exon_variant,,ENST00000552233,;AMHR2,downstream_gene_variant,,ENST00000548303,;							MODERATE	1360/1722		AMHR2_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000257863		CCDS8858.1			1	
ZNF600	0	LGGM	GRCh37	19	53270282	53270282	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110451	H110451N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	91	51	.	.	ENST00000338230.3:c.727G>C	p.Val243Leu	p.V243L	ENST00000338230	NM_198457.2	243	Gta/Cta	0	1	1	UPI0000366E5E	0	getma.org/pdb.php?prot=ZN600_HUMAN&from=232&to=257&var=V243L	ENST00000338230		ENSG00000189190	30951		142	0.825		HGNC	p.V243L		ZNF600		SNV							ENST00000338230	protein_coding	getma.org/?cm=var&var=hg19,19,53270282,C,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF233,Superfamily_domains:SSF57667		V/L		G	low	995/3829		getma.org/?cm=msa&ty=f&p=ZN600_HUMAN&rb=212&re=277&var=V243L	deleterious(0)				YES	ZNF600,missense_variant,p.Val243Leu,ENST00000338230,NM_198457.2;							MODERATE	727/2169	V243L	ZN600_HUMAN			Transcript		benign(0.174)	.	ENSP00000344791		CCDS12856.1			1	
PTPN13	0	LGGM	GRCh37	4	87731010	87731010	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	81	53	.	.	ENST00000436978.1:c.7187T>A	p.Phe2396Tyr	p.F2396Y	ENST00000436978	NM_080685.2	2396	tTt/tAt	0	1		UPI0000132973	0	getma.org/pdb.php?prot=PTN13_HUMAN&from=2237&to=2466&var=F2391Y	ENST00000411767		ENSG00000163629	9646		134	1.085		HGNC	p.F2396Y		PTPN13		SNV							ENST00000436978	protein_coding	getma.org/?cm=var&var=hg19,4,87731010,T,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000933,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF197,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		F/Y		A	low	7235/8119		getma.org/?cm=msa&ty=f&p=PTN13_HUMAN&rb=2237&re=2466&var=F2391Y	deleterious(0.01)	D6R9X4_HUMAN				PTPN13,missense_variant,p.Phe2396Tyr,ENST00000436978,NM_080685.2,NM_080683.2;PTPN13,missense_variant,p.Phe2372Tyr,ENST00000427191,NM_006264.2;PTPN13,missense_variant,p.Phe2391Tyr,ENST00000411767,;PTPN13,missense_variant,p.Phe2396Tyr,ENST00000511467,;PTPN13,missense_variant,p.Phe2200Tyr,ENST00000316707,NM_080684.2;							MODERATE	7172/7458	F2391Y	PTN13_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000407249		CCDS47094.1			1	
MEP1B	0	LGGM	GRCh37	18	29793480	29793480	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	96	61	.	.	ENST00000269202.6:c.1537T>G	p.Ser513Ala	p.S513A	ENST00000269202	NM_005925.2	513	Tcc/Gcc	0	1	1	UPI0000201B8B	0	getma.org/pdb.php?prot=MEP1B_HUMAN&from=434&to=587&var=S513A	ENST00000269202		ENSG00000141434	7020		157	2.725		HGNC	p.S513A		MEP1B		SNV							ENST00000581447	protein_coding	getma.org/?cm=var&var=hg19,18,29793480,T,G&fts=all		Gene3D:2.60.210.10,Pfam_domain:PF00917,PIRSF_domain:PIRSF001196,PROSITE_profiles:PS50144,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF312,SMART_domains:SM00061,Superfamily_domains:SSF49599		S/A		G	medium	1584/2312		getma.org/?cm=msa&ty=f&p=MEP1B_HUMAN&rb=434&re=587&var=S513A	deleterious(0)	J3KRK1_HUMAN			YES	MEP1B,missense_variant,p.Ser513Ala,ENST00000269202,NM_005925.2;MEP1B,missense_variant,p.Ser513Ala,ENST00000581447,;GAREM,intron_variant,,ENST00000583696,;							MODERATE	1537/2106	S513A	MEP1B_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000269202		CCDS45846.1			1	
AKR1B15	0	LGGM	GRCh37	7	134260579	134260579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110451	H110451N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110451N.bam, H110451T.bam	Illumina HiSeq	125	78	.	.	ENST00000457545.2:c.643T>C	p.Cys215Arg	p.C215R	ENST00000457545	NM_001080538.2	215	Tgt/Cgt	0	1	1	UPI00004193E1	0	getma.org/pdb.php?prot=AK1BF_HUMAN&from=53&to=322&var=C215R	ENST00000457545		ENSG00000227471	37281		203	2.07		HGNC	p.C187R		AKR1B15		SNV							ENST00000423958	protein_coding	getma.org/?cm=var&var=hg19,7,134260579,T,C&fts=all		Gene3D:3.20.20.100,Pfam_domain:PF00248,PIRSF_domain:PIRSF000097,Prints_domain:PR00069,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF197,Superfamily_domains:SSF51430		C/R		C	medium	903/1621		getma.org/?cm=msa&ty=f&p=AK1BF_HUMAN&rb=53&re=322&var=C215R	deleterious(0)				YES	AKR1B15,missense_variant,p.Cys215Arg,ENST00000457545,NM_001080538.2;AKR1B15,missense_variant,p.Cys187Arg,ENST00000423958,;							MODERATE	643/1035	C215R	AK1BF_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000389289		CCDS47715.2			1	
VWF	0	LGGM	GRCh37	12	6181591	6181591	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	7	2	.	.	ENST00000261405.5:c.1015G>T	p.Glu339Ter	p.E339*	ENST00000261405	NM_000552.3	339	Gaa/Taa	0	1	1	UPI00001AE7EE	0	NA	ENST00000261405		ENSG00000110799	12726		9	0		HGNC	p.E339X		VWF		SNV			1				ENST00000261405	protein_coding	getma.org/?cm=var&var=hg19,12,6181591,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF01826,PIRSF_domain:PIRSF002495,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,Superfamily_domains:SSF57567		E/*		A	NA	1270/8838		NA		H2DLA2_HUMAN			YES	VWF,stop_gained,p.Glu339Ter,ENST00000261405,NM_000552.3;VWF,intron_variant,,ENST00000538635,;							HIGH	1015/8442	E339*	VWF_HUMAN			Transcript			.	ENSP00000261405		CCDS8539.1			1	
HYDIN	0	LGGM	GRCh37	16	70954863	70954863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	3	2	.	.	ENST00000393567.2:c.7416G>T	p.Met2472Ile	p.M2472I	ENST00000393567	NM_001270974.1	2472	atG/atT	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		5	1.24		HGNC	p.M2472I		HYDIN		SNV			1				ENST00000393567	protein_coding	getma.org/?cm=var&var=hg19,16,70954863,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		M/I		A	low	7567/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2360&re=2511&var=M2472I		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Met2472Ile,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;							MODERATE	7416/15366	M2472I	HYDIN_HUMAN			Transcript		benign(0.263)	.	ENSP00000377197		CCDS59269.1			1	
PADI1	0	LGGM	GRCh37	1	17550166	17550166	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	13	2	.	.	ENST00000375471.4:c.324C>A	p.Ser108Arg	p.S108R	ENST00000375471	NM_013358.2	108	agC/agA	0	1	1	UPI000013D8A2	0	getma.org/pdb.php?prot=PADI1_HUMAN&from=1&to=113&var=S108R	ENST00000375471		ENSG00000142623	18367		15	1.79		HGNC	p.S108R	COSM365573	PADI1		SNV						1	ENST00000375471	protein_coding	getma.org/?cm=var&var=hg19,1,17550166,C,A&fts=all		Pfam_domain:PF08526,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF9,Superfamily_domains:SSF49503		S/R		A	low	416/3846		getma.org/?cm=msa&ty=f&p=PADI1_HUMAN&rb=1&re=113&var=S108R	deleterious(0)	B4DQP2_HUMAN,B4DDP3_HUMAN			YES	PADI1,missense_variant,p.Ser108Arg,ENST00000375471,NM_013358.2;PADI1,non_coding_transcript_exon_variant,,ENST00000483501,;					1		MODERATE	324/1992	S108R	PADI1_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000364620		CCDS178.1			1	
MUC12	0	LGGM	GRCh37	7	100615428	100615428	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	18	2	.	.	ENST00000536621.1:c.67+2458C>G		*23*	ENST00000536621	NM_001164462.1			0	1		UPI0001722DB1	0		ENST00000379442		ENSG00000205277	7510		20			HGNC	p.Q33E		MUC12		SNV							ENST00000379442	protein_coding					Q/E		G		97/16737								MUC12,missense_variant,p.Gln33Glu,ENST00000379442,;MUC12,intron_variant,,ENST00000536621,NM_001164462.1;MUC3A,downstream_gene_variant,,ENST00000319509,;MUC3A,downstream_gene_variant,,ENST00000422757,;RP11-395B7.2,upstream_gene_variant,,ENST00000420080,;MUC3A,downstream_gene_variant,,ENST00000483133,;MUC3A,downstream_gene_variant,,ENST00000480291,;MUC3A,downstream_gene_variant,,ENST00000414964,;							MODERATE	97/16437		MUC12_HUMAN			Transcript		unknown(0)	.	ENSP00000368755					1	
CYP2E1	0	LGGM	GRCh37	10	135342033	135342033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	12	2	.	.	ENST00000463117.2:c.226C>A	p.Arg76Ser	p.R76S	ENST00000463117		76	Cgc/Agc	0	1		UPI0000128291	0	getma.org/pdb.php?prot=CP2E1_HUMAN&from=33&to=489&var=R76S	ENST00000252945		ENSG00000130649	2631		14	0.935		HGNC	p.R76S		CYP2E1		SNV							ENST00000541261	protein_coding	getma.org/?cm=var&var=hg19,10,135342033,C,A&fts=all		hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264,Prints_domain:PR00463		R/S		A	low	259/1667		getma.org/?cm=msa&ty=f&p=CP2E1_HUMAN&rb=33&re=489&var=R76S	deleterious(0.02)	Q4LBD0_HUMAN,F5H694_HUMAN				CYP2E1,missense_variant,p.Arg76Ser,ENST00000463117,;CYP2E1,missense_variant,p.Arg76Ser,ENST00000252945,NM_000773.3;CYP2E1,missense_variant,p.Arg76Ser,ENST00000541261,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,intron_variant,,ENST00000421586,;CYP2E1,intron_variant,,ENST00000418356,;AL161645.2,intron_variant,,ENST00000599428,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000480558,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000477500,;CYP2E1,intron_variant,,ENST00000541080,;CYP2E1,upstream_gene_variant,,ENST00000368520,;RP11-108K14.4,downstream_gene_variant,,ENST00000488261,;RP11-108K14.4,downstream_gene_variant,,ENST00000356567,;							MODERATE	226/1482	R76S	CP2E1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000252945		CCDS7686.1			1	
PDE4C	0	LGGM	GRCh37	19	18322054	18322054	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	17	2	.	.	ENST00000355502.3:c.1824G>C	p.Leu608=	p.L608=	ENST00000355502		608	ctG/ctC	0	1	1	UPI0000127BF8	0		ENST00000355502		ENSG00000105650	8782		19			HGNC	p.L608L		PDE4C		SNV							ENST00000355502	protein_coding			Gene3D:1.10.1300.10,Pfam_domain:PF00233,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF94,Superfamily_domains:SSF109604		L		G		2696/5979				Q9UPJ5_HUMAN,Q9P1U3_HUMAN,Q32MM7_HUMAN,O76105_HUMAN,M0R1P5_HUMAN,B7Z2S3_HUMAN			YES	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,;AC068499.10,intron_variant,,ENST00000594805,;AC068499.10,downstream_gene_variant,,ENST00000599416,;PDE4C,3_prime_UTR_variant,,ENST00000599188,;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,;							LOW	1824/2139		PDE4C_HUMAN			Transcript			.	ENSP00000347689		CCDS12373.1			1	
LMF1	0	LGGM	GRCh37	16	904616	904616	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	6	2	.	.	ENST00000262301.11:c.1620C>T	p.Ile540=	p.I540=	ENST00000262301	NM_022773.2	540	atC/atT	0	1	1	UPI000006E366	0		ENST00000262301		ENSG00000103227	14154	0.000134	8			HGNC	p.I540I	rs747840267	LMF1		SNV			1				ENST00000262301	protein_coding			hmmpanther:PTHR14463,Pfam_domain:PF06762		I		A		1639/2621	2.21E-05			H3BVI4_HUMAN,H3BN37_HUMAN,B3KS80_HUMAN			YES	LMF1,synonymous_variant,p.=,ENST00000262301,NM_022773.2;LMF1,synonymous_variant,p.=,ENST00000399843,;LMF1,synonymous_variant,p.=,ENST00000543238,;LMF1,synonymous_variant,p.=,ENST00000568897,;LMF1,3_prime_UTR_variant,,ENST00000545827,;LMF1,3_prime_UTR_variant,,ENST00000565276,;LMF1,non_coding_transcript_exon_variant,,ENST00000569516,;							LOW	1620/1704		LMF1_HUMAN			Transcript			.	ENSP00000262301	1.66E-05	CCDS45373.1			1	
LCN1	0	LGGM	GRCh37	9	138413373	138413373	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110467	H110467N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	13	2	.	.	ENST00000263598.2:c.30T>C	p.Leu10=	p.L10=	ENST00000263598	NM_002297.3	10	ctT/ctC	0	1	1	UPI0000040631	0		ENST00000263598		ENSG00000160349	6525		15			HGNC	p.L10L	rs768895070,COSM204739	LCN1	0.000378	SNV				0.000844		0,1	ENST00000371781	protein_coding			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11430:SF3,hmmpanther:PTHR11430		L		C		90/776	0.00025						YES	LCN1,synonymous_variant,p.=,ENST00000263598,NM_002297.3,NM_001252618.1,NM_001252619.1,NM_001252617.1;LCN1,synonymous_variant,p.=,ENST00000371781,;					0,1		LOW	30/531		LCN1_HUMAN	0.000323		Transcript			common_variant	ENSP00000263598	0.000371	CCDS6991.1	0.00117		1	
ARL10	0	LGGM	GRCh37	5	175793541	175793541	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	11	2	.	.	ENST00000310389.5:c.342C>A	p.Ser114=	p.S114=	ENST00000310389	NM_173664.4	114	tcC/tcA	0	1	1	UPI000006FEF9	0		ENST00000310389		ENSG00000175414	22042		13			HGNC	p.S114S		ARL10		SNV							ENST00000310389	protein_coding			PROSITE_profiles:PS51417,hmmpanther:PTHR11711,hmmpanther:PTHR11711:SF126,Pfam_domain:PF00025,Gene3D:3.40.50.300,SMART_domains:SM00177,SMART_domains:SM00178,Superfamily_domains:SSF52540		S		A		438/10845							YES	ARL10,synonymous_variant,p.=,ENST00000310389,NM_173664.4;KIAA1191,upstream_gene_variant,,ENST00000298569,NM_020444.3,NM_001287336.1,NM_001287335.1;KIAA1191,upstream_gene_variant,,ENST00000393725,NM_001079684.1;KIAA1191,upstream_gene_variant,,ENST00000510164,NM_001079685.1;KIAA1191,upstream_gene_variant,,ENST00000503082,;KIAA1191,upstream_gene_variant,,ENST00000533553,;KIAA1191,upstream_gene_variant,,ENST00000506983,;KIAA1191,upstream_gene_variant,,ENST00000504688,;ARL10,upstream_gene_variant,,ENST00000503175,;ARL10,upstream_gene_variant,,ENST00000514533,;MIR1271,upstream_gene_variant,,ENST00000408537,;KIAA1191,upstream_gene_variant,,ENST00000393728,;KIAA1191,upstream_gene_variant,,ENST00000506668,;KIAA1191,upstream_gene_variant,,ENST00000506613,;ARL10,non_coding_transcript_exon_variant,,ENST00000507151,;KIAA1191,upstream_gene_variant,,ENST00000508023,;							LOW	342/735		ARL10_HUMAN			Transcript			.	ENSP00000308496		CCDS4400.1			1	
SVIL	0	LGGM	GRCh37	10	29776206	29776206	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	18	2	.	.	ENST00000375398.2:c.4371G>C	p.Arg1457Ser	p.R1457S	ENST00000375398		1457	agG/agC	0	1		UPI0000366678	0	getma.org/pdb.php?prot=SVIL_HUMAN&from=1453&to=1522&var=R1457S	ENST00000355867		ENSG00000197321	11480		20	2.745		HGNC	p.R371S		SVIL		SNV							ENST00000535393	protein_coding	getma.org/?cm=var&var=hg19,10,29776206,C,G&fts=all		hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF28,Gene3D:3.40.20.10,SMART_domains:SM00262,Superfamily_domains:SSF55753		R/S		G	medium	5124/7586		getma.org/?cm=msa&ty=f&p=SVIL_HUMAN&rb=1453&re=1522&var=R1457S	deleterious(0)	Q569J5_HUMAN				SVIL,missense_variant,p.Arg1457Ser,ENST00000375398,;SVIL,missense_variant,p.Arg1457Ser,ENST00000355867,NM_021738.2;SVIL,missense_variant,p.Arg1031Ser,ENST00000375400,NM_003174.3;SVIL,missense_variant,p.Arg371Ser,ENST00000535393,;SVIL,missense_variant,p.Arg249Ser,ENST00000538146,;PTCHD3P1,non_coding_transcript_exon_variant,,ENST00000413405,;PTCHD3P1,downstream_gene_variant,,ENST00000414457,;PTCHD3P1,downstream_gene_variant,,ENST00000446807,;PTCHD3P1,downstream_gene_variant,,ENST00000423223,;SVIL,downstream_gene_variant,,ENST00000474106,;SVIL,upstream_gene_variant,,ENST00000482607,;							MODERATE	4371/6645	R1457S	SVIL_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000348128		CCDS7164.1			1	
IGHM	0	LGGM	GRCh37	14	106322317	106322317	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	6	2	.	.	ENST00000390559.2:c.7G>T	p.Ala3Ser	p.A3S	ENST00000390559		3	Gca/Tca	0	1	1	UPI000173A6A1	0		ENST00000390559		ENSG00000211899	5541		8			HGNC	p.A3S		IGHM		SNV			1				ENST00000390559	IG_C_gene			Gene3D:2.60.40.10		A/S		A		7/1461			tolerated(0.85)	Q86TT1_HUMAN			YES	IGHM,missense_variant,p.Ala3Ser,ENST00000390559,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.1,downstream_gene_variant,,ENST00000581354,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;AL122127.4,downstream_gene_variant,,ENST00000581720,;AL122127.3,downstream_gene_variant,,ENST00000580379,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.2,downstream_gene_variant,,ENST00000581918,;AL122127.5,downstream_gene_variant,,ENST00000582202,;							MODERATE	7/1362					Transcript		benign(0.003)	.	ENSP00000375001					1	
PCNT	0	LGGM	GRCh37	21	47809276	47809276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	13	2	.	.	ENST00000359568.5:c.3770G>T	p.Arg1257Leu	p.R1257L	ENST00000359568	NM_006031.5	1257	cGg/cTg	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		15	1.7		HGNC	p.R1257L		PCNT		SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47809276,G,T&fts=all		hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		R/L		T	low	3877/10560		getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=781&re=1299&var=R1257L					YES	PCNT,missense_variant,p.Arg1257Leu,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;							MODERATE	3770/10011	R1257L	PCNT_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000352572		CCDS33592.1			1	
PDK1	0	LGGM	GRCh37	2	173421038	173421038	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	3	2	.	.	ENST00000282077.3:c.160C>T	p.Pro54Ser	p.P54S	ENST00000282077		54	Ccg/Tcg	0	1	1	UPI0000001C7A	0	NA	ENST00000282077		ENSG00000152256	8809		5	0.55		HGNC	p.P54S		PDK1		SNV							ENST00000431718	protein_coding	getma.org/?cm=var&var=hg19,2,173421038,C,T&fts=all		hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF14,Gene3D:1.20.140.20,Superfamily_domains:SSF69012		P/S		T	neutral	342/14193		getma.org/?cm=msa&ty=f&p=PDK1_HUMAN&rb=1&re=54&var=P54S	deleterious(0)	C9JKT3_HUMAN,Q53R49_HUMAN,B7Z7N6_HUMAN,B7Z207_HUMAN			YES	PDK1,missense_variant,p.Pro54Ser,ENST00000282077,;PDK1,missense_variant,p.Pro54Ser,ENST00000410055,NM_002610.4;PDK1,missense_variant,p.Pro54Ser,ENST00000392571,NM_001278549.1;PDK1,intron_variant,,ENST00000543905,;PDK1,intron_variant,,ENST00000544863,;PDK1,intron_variant,,ENST00000443353,;PDK1,upstream_gene_variant,,ENST00000416991,;PDK1,upstream_gene_variant,,ENST00000439519,;AC093818.1,non_coding_transcript_exon_variant,,ENST00000450443,;AC093818.1,non_coding_transcript_exon_variant,,ENST00000442417,;AC093818.1,non_coding_transcript_exon_variant,,ENST00000436922,;AC093818.1,non_coding_transcript_exon_variant,,ENST00000444919,;Y_RNA,downstream_gene_variant,,ENST00000362996,;PDK1,missense_variant,p.Pro54Ser,ENST00000431718,;PDK1,intron_variant,,ENST00000436490,;							MODERATE	160/1311	P54S	PDK1_HUMAN			Transcript		benign(0.132)	.	ENSP00000282077		CCDS2250.1			1	
UMOD	0	LGGM	GRCh37	16	20352446	20352446	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	9	2	.	.	ENST00000570689.1:c.1544C>A	p.Thr515Lys	p.T515K	ENST00000570689		515	aCg/aAg	0	1		UPI0000137E1A	0	getma.org/pdb.php?prot=UROM_HUMAN&from=334&to=585&var=T515K	ENST00000302509		ENSG00000169344	12559		11	1.92		HGNC	p.T515K		UMOD		SNV			1				ENST00000570689	protein_coding	getma.org/?cm=var&var=hg19,16,20352446,G,T&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF12,hmmpanther:PTHR22962,PROSITE_patterns:PS00682,Pfam_domain:PF00100,SMART_domains:SM00241		T/K		T	medium	1610/2251		getma.org/?cm=msa&ty=f&p=UROM_HUMAN&rb=334&re=585&var=T515K	tolerated(0.12)	Q8NHW8_HUMAN,I3L4Y6_HUMAN,I3L4B0_HUMAN,I3L2J2_HUMAN,I3L1M3_HUMAN,I3L1A9_HUMAN,B3KXM9_HUMAN				UMOD,missense_variant,p.Thr548Lys,ENST00000396134,NM_001278614.1;UMOD,missense_variant,p.Thr564Lys,ENST00000396138,NM_003361.3,NM_001008389.2;UMOD,missense_variant,p.Thr548Lys,ENST00000424589,;UMOD,missense_variant,p.Thr515Lys,ENST00000570689,;UMOD,missense_variant,p.Thr515Lys,ENST00000396142,;UMOD,missense_variant,p.Thr515Lys,ENST00000302509,;UMOD,non_coding_transcript_exon_variant,,ENST00000570331,;							MODERATE	1544/1923	T515K	UROM_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000306279		CCDS10583.1			1	
NOTCH1	0	LGGM	GRCh37	9	139418192	139418192	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	6	2	.	.	ENST00000277541.6:c.380G>T	p.Cys127Phe	p.C127F	ENST00000277541	NM_017617.3	127	tGc/tTc	0	1	1	UPI0000210F68	0	NA	ENST00000277541		ENSG00000148400	7881		8	4.245		HGNC	p.C127F		NOTCH1		SNV			1				ENST00000277541	protein_coding	getma.org/?cm=var&var=hg19,9,139418192,C,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF002279,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF37,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		C/F		A	high	456/9371		getma.org/?cm=msa&ty=f&p=NOTC1_HUMAN&rb=106&re=137&var=C127F	deleterious(0)	H9CXX2_HUMAN			YES	NOTCH1,missense_variant,p.Cys127Phe,ENST00000277541,NM_017617.3;MIR4673,upstream_gene_variant,,ENST00000584777,;NOTCH1,non_coding_transcript_exon_variant,,ENST00000491649,;							MODERATE	380/7668	C127F	NOTC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000277541		CCDS43905.1			1	
APLP2	0	LGGM	GRCh37	11	129979341	129979341	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	23	2	.	.	ENST00000263574.5:c.123C>A	p.Ala41=	p.A41=	ENST00000263574	NM_001642.2	41	gcC/gcA	0	1	1	UPI0000125CAE	0		ENST00000263574		ENSG00000084234	598		25			HGNC	p.A41A		APLP2		SNV							ENST00000528499	protein_coding			hmmpanther:PTHR23103:SF14,hmmpanther:PTHR23103		A		A		195/3720				Q9UED0_HUMAN			YES	APLP2,synonymous_variant,p.=,ENST00000263574,NM_001642.2;APLP2,synonymous_variant,p.=,ENST00000278756,;APLP2,synonymous_variant,p.=,ENST00000338167,NM_001142276.1;APLP2,synonymous_variant,p.=,ENST00000528499,NM_001142277.1;APLP2,synonymous_variant,p.=,ENST00000345598,NM_001142278.1;APLP2,synonymous_variant,p.=,ENST00000533713,;APLP2,synonymous_variant,p.=,ENST00000533195,;APLP2,5_prime_UTR_variant,,ENST00000543137,NM_001243299.1;APLP2,intron_variant,,ENST00000539648,;APLP2,non_coding_transcript_exon_variant,,ENST00000532456,;APLP2,non_coding_transcript_exon_variant,,ENST00000526330,;APLP2,non_coding_transcript_exon_variant,,ENST00000529701,;APLP2,non_coding_transcript_exon_variant,,ENST00000534761,;APLP2,non_coding_transcript_exon_variant,,ENST00000529235,;APLP2,non_coding_transcript_exon_variant,,ENST00000529483,;APLP2,intron_variant,,ENST00000534001,;APLP2,intron_variant,,ENST00000527702,;APLP2,synonymous_variant,p.=,ENST00000534582,;APLP2,3_prime_UTR_variant,,ENST00000530132,;APLP2,non_coding_transcript_exon_variant,,ENST00000533532,;APLP2,non_coding_transcript_exon_variant,,ENST00000533618,;APLP2,non_coding_transcript_exon_variant,,ENST00000461918,;APLP2,non_coding_transcript_exon_variant,,ENST00000525215,;APLP2,intron_variant,,ENST00000533616,;							LOW	123/2292		APLP2_HUMAN			Transcript			.	ENSP00000263574		CCDS8486.1			1	
RPL22	0	LGGM	GRCh37	1	6257755	6257755	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	21	2	.	.	ENST00000234875.4:c.74G>C	p.Cys25Ser	p.C25S	ENST00000234875	NM_000983.3	25	tGc/tCc	0	1	1	UPI000015A487	0	getma.org/pdb.php?prot=RL22_HUMAN&from=13&to=127&var=C25S	ENST00000234875		ENSG00000116251	10315		23	3.77		HGNC	p.C25S		RPL22		SNV							ENST00000234875	protein_coding	getma.org/?cm=var&var=hg19,1,6257755,C,G&fts=all		hmmpanther:PTHR10064:SF2,hmmpanther:PTHR10064,Pfam_domain:PF01776		C/S		G	high	113/2078		getma.org/?cm=msa&ty=f&p=RL22_HUMAN&rb=13&re=127&var=C25S	deleterious(0.02)	Q8WYP0_HUMAN,K7ERI7_HUMAN,K7EP65_HUMAN,K7EMH1_HUMAN,K7ELC4_HUMAN,K7EJT5_HUMAN			YES	RPL22,missense_variant,p.Cys25Ser,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,;							MODERATE	74/387	C25S	RL22_HUMAN			Transcript		possibly_damaging(0.606)	.	ENSP00000346088		CCDS58.1			1	
TSPAN13	0	LGGM	GRCh37	7	16793602	16793602	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	10	2	.	.	ENST00000262067.4:c.10G>C	p.Gly4Arg	p.G4R	ENST00000262067	NM_014399.3	4	Ggg/Cgg	0	1	1	UPI0000048EB9	0	NA	ENST00000262067		ENSG00000106537	21643		12	1.91		HGNC	p.G4R		TSPAN13		SNV							ENST00000262067	protein_coding	getma.org/?cm=var&var=hg19,7,16793602,G,C&fts=all		PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF203		G/R		C	medium	443/2093		getma.org/?cm=msa&ty=f&p=TSN13_HUMAN&rb=1&re=37&var=G4R	deleterious(0)	Q6FGK0_HUMAN			YES	TSPAN13,missense_variant,p.Gly4Arg,ENST00000262067,NM_014399.3;							MODERATE	10/615	G4R	TSN13_HUMAN			Transcript		possibly_damaging(0.701)	.	ENSP00000262067		CCDS5363.1			1	
HMGCR	0	LGGM	GRCh37	5	74650929	74650929	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	46	3	.	.	ENST00000287936.4:c.1612G>T	p.Val538Phe	p.V538F	ENST00000287936	NM_000859.2	538	Gtt/Ttt	0	1	1	UPI000012C9E2	0	getma.org/pdb.php?prot=HMDH_HUMAN&from=489&to=871&var=V538F	ENST00000287936		ENSG00000113161	5006		49	3.895		HGNC	p.V538F		HMGCR		SNV			1				ENST00000287936	protein_coding	getma.org/?cm=var&var=hg19,5,74650929,G,T&fts=all		PROSITE_profiles:PS50065,hmmpanther:PTHR10572:SF4,hmmpanther:PTHR10572,Gene3D:3.90.770.10,TIGRFAM_domain:TIGR00920,Pfam_domain:PF00368,TIGRFAM_domain:TIGR00533,Superfamily_domains:SSF56542,Prints_domain:PR00071		V/F		T	high	1768/4585		getma.org/?cm=msa&ty=f&p=HMDH_HUMAN&rb=489&re=871&var=V538F	deleterious(0)	D6RIW0_HUMAN,C9JKX7_HUMAN			YES	HMGCR,missense_variant,p.Val538Phe,ENST00000287936,NM_000859.2;HMGCR,missense_variant,p.Val538Phe,ENST00000511206,;HMGCR,intron_variant,,ENST00000343975,NM_001130996.1;HMGCR,upstream_gene_variant,,ENST00000509085,;HMGCR,upstream_gene_variant,,ENST00000511986,;HMGCR,non_coding_transcript_exon_variant,,ENST00000515776,;HMGCR,downstream_gene_variant,,ENST00000504466,;HMGCR,upstream_gene_variant,,ENST00000514315,;HMGCR,upstream_gene_variant,,ENST00000512053,;HMGCR,upstream_gene_variant,,ENST00000508070,;							MODERATE	1612/2667	V538F	HMDH_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000287936		CCDS4027.1			1	
GFRA1	0	LGGM	GRCh37	10	117856216	117856216	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	16	3	.	.	ENST00000355422.6:c.830G>T	p.Cys277Phe	p.C277F	ENST00000355422	NM_005264.4	277	tGt/tTt	0	1	1	UPI000012B3A8	0	getma.org/pdb.php?prot=GFRA1_HUMAN&from=243&to=337&var=C277F	ENST00000355422		ENSG00000151892	4243		19	2.79		HGNC	p.C156F		GFRA1		SNV							ENST00000544592	protein_coding	getma.org/?cm=var&var=hg19,10,117856216,C,A&fts=all		hmmpanther:PTHR10269,hmmpanther:PTHR10269:SF3,Pfam_domain:PF02351,SMART_domains:SM00907,PIRSF_domain:PIRSF038071,Superfamily_domains:0042655		C/F		A	medium	1381/2583		getma.org/?cm=msa&ty=f&p=GFRA1_HUMAN&rb=243&re=337&var=C277F	deleterious(0)				YES	GFRA1,missense_variant,p.Cys272Phe,ENST00000439649,NM_001145453.1;GFRA1,missense_variant,p.Cys272Phe,ENST00000369236,NM_145793.3;GFRA1,missense_variant,p.Cys277Phe,ENST00000355422,NM_005264.4;GFRA1,missense_variant,p.Cys277Phe,ENST00000369234,;GFRA1,missense_variant,p.Cys156Phe,ENST00000544592,;							MODERATE	830/1398	C277F	GFRA1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000347591		CCDS44481.1			1	
CYP4F11	0	LGGM	GRCh37	19	16024666	16024666	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110467	H110467N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	8	3	.	.	ENST00000402119.4:c.1451T>A	p.Leu484His	p.L484H	ENST00000402119	NM_021187.3	484	cTc/cAc	0	1		UPI000013CC35	0	getma.org/pdb.php?prot=CP4FB_HUMAN&from=52&to=515&var=L484H	ENST00000248041		ENSG00000171903	13265		11	1.485		HGNC	p.L484H		CYP4F11		SNV							ENST00000402119	protein_coding	getma.org/?cm=var&var=hg19,19,16024666,A,T&fts=all		hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF61,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264,Prints_domain:PR00463		L/H		T	low	1488/2977		getma.org/?cm=msa&ty=f&p=CP4FB_HUMAN&rb=52&re=515&var=L484H	deleterious(0)					CYP4F11,missense_variant,p.Leu484His,ENST00000402119,NM_021187.3;CYP4F11,missense_variant,p.Leu484His,ENST00000248041,NM_001128932.1;CYP4F11,missense_variant,p.Leu159His,ENST00000591841,;CYP4F11,3_prime_UTR_variant,,ENST00000326742,;AC005336.4,upstream_gene_variant,,ENST00000585431,;							MODERATE	1451/1575	L484H	CP4FB_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000248041		CCDS12337.1			1	
KRT39	0	LGGM	GRCh37	17	39115078	39115078	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	44	3	.	.	ENST00000355612.2:c.1251G>T	p.Glu417Asp	p.E417D	ENST00000355612	NM_213656.3	417	gaG/gaT	0	1	1	UPI0000237913	0	NA	ENST00000355612		ENSG00000196859	32971		47	1.59		HGNC	p.E417D		KRT39		SNV							ENST00000355612	protein_coding	getma.org/?cm=var&var=hg19,17,39115078,C,A&fts=all		hmmpanther:PTHR23239:SF106,hmmpanther:PTHR23239		E/D		A	low	1287/1696		getma.org/?cm=msa&ty=f&p=K1C39_HUMAN&rb=407&re=491&var=E417D	tolerated(0.34)	J3QRE9_HUMAN			YES	KRT39,missense_variant,p.Glu417Asp,ENST00000355612,NM_213656.3;AC004231.2,intron_variant,,ENST00000418393,;KRT39,3_prime_UTR_variant,,ENST00000578078,;KRT39,non_coding_transcript_exon_variant,,ENST00000578029,;							MODERATE	1251/1476	E417D	K1C39_HUMAN			Transcript		benign(0.006)	.	ENSP00000347823		CCDS11382.1			1	
DHX29	0	LGGM	GRCh37	5	54563559	54563559	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	21	3	.	.	ENST00000251636.5:c.3386C>T	p.Ala1129Val	p.A1129V	ENST00000251636	NM_019030.2	1129	gCc/gTc	0	1	1	UPI00001AE72C	0	getma.org/pdb.php?prot=DHX29_HUMAN&from=1048&to=1139&var=A1129V	ENST00000251636		ENSG00000067248	15815		24	2.375		HGNC	p.A1129V		DHX29		SNV							ENST00000251636	protein_coding	getma.org/?cm=var&var=hg19,5,54563559,G,A&fts=all		Pfam_domain:PF04408,hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF82,SMART_domains:SM00847,Superfamily_domains:SSF52540		A/V		A	medium	3535/4502		getma.org/?cm=msa&ty=f&p=DHX29_HUMAN&rb=1048&re=1139&var=A1129V	deleterious(0.01)				YES	DHX29,missense_variant,p.Ala1129Val,ENST00000251636,NM_019030.2;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;DHX29,downstream_gene_variant,,ENST00000513447,;							MODERATE	3386/4110	A1129V	DHX29_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000251636		CCDS34158.1			1	
DCHS2	0	LGGM	GRCh37	4	155243542	155243542	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	40	3	.	.	ENST00000357232.4:c.2752G>T	p.Val918Phe	p.V918F	ENST00000357232	NM_017639.3	918	Gtc/Ttc	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=848&to=939&var=V918F	ENST00000357232		ENSG00000197410	23111		43	3.205		HGNC	p.V918F		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155243542,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/F		A	medium	2752/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=848&re=939&var=V918F	deleterious(0)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Val918Phe,ENST00000357232,NM_017639.3;DCHS2,downstream_gene_variant,,ENST00000339452,NM_001142552.1;							MODERATE	2752/8751	V918F	PCD23_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000349768		CCDS3785.1			1	
FCGR2A	0	LGGM	GRCh37	1	161487842	161487842	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	32	3	.	.	ENST00000271450.6:c.858C>A	p.Gly286=	p.G286=	ENST00000271450	NM_021642.3	286	ggC/ggA	0	1	1	UPI000013D8DE	0		ENST00000271450		ENSG00000143226	3616		35			HGNC	p.G21G		FCGR2A		SNV							ENST00000461298	protein_coding			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF51		G		A		896/2412				F5H137_HUMAN,F5GY95_HUMAN			YES	FCGR2A,synonymous_variant,p.=,ENST00000271450,NM_021642.3,NM_001136219.1;FCGR2A,synonymous_variant,p.=,ENST00000367972,;FCGR2A,synonymous_variant,p.=,ENST00000459885,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000486608,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000461298,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000471026,;FCGR2A,non_coding_transcript_exon_variant,,ENST00000491841,;RP11-25K21.6,non_coding_transcript_exon_variant,,ENST00000537821,;FCGR2A,3_prime_UTR_variant,,ENST00000467525,;FCGR2A,3_prime_UTR_variant,,ENST00000483665,;							LOW	858/954		FCG2A_HUMAN			Transcript			.	ENSP00000271450		CCDS44264.1			1	
CMTR2	0	LGGM	GRCh37	16	71318110	71318110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	46	3	.	.	ENST00000338099.5:c.1714G>T	p.Val572Leu	p.V572L	ENST00000338099		572	Gta/Tta	0	1	1	UPI000006EA8B	0	NA	ENST00000338099		ENSG00000180917	25635		49	0.55		HGNC	p.V572L		CMTR2		SNV							ENST00000434935	protein_coding	getma.org/?cm=var&var=hg19,16,71318110,C,A&fts=all		hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF1		V/L		A	neutral	2051/4869		getma.org/?cm=msa&ty=f&p=FTSJ1_HUMAN&rb=531&re=610&var=V572L	tolerated(0.32)	H3BUK2_HUMAN,H3BTZ7_HUMAN,H3BS00_HUMAN,H3BR19_HUMAN,H3BNZ8_HUMAN			YES	CMTR2,missense_variant,p.Val572Leu,ENST00000338099,;CMTR2,missense_variant,p.Val572Leu,ENST00000434935,NM_001099642.1,NM_018348.5;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;							MODERATE	1714/2313	V572L	CMTR2_HUMAN			Transcript		benign(0.002)	.	ENSP00000337512		CCDS10898.1			1	
ABCD2	0	LGGM	GRCh37	12	39973380	39973380	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	44	3	.	.	ENST00000308666.3:c.1834G>T	p.Gly612Trp	p.G612W	ENST00000308666	NM_005164.3	612	Ggg/Tgg	0	1	1	UPI000004C4C6	0	getma.org/pdb.php?prot=ABCD2_HUMAN&from=518&to=637&var=G612W	ENST00000308666		ENSG00000173208	66		47	4.685		HGNC	p.G612W		ABCD2		SNV							ENST00000308666	protein_coding	getma.org/?cm=var&var=hg19,12,39973380,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_patterns:PS00211,PROSITE_profiles:PS50893,hmmpanther:PTHR11384,hmmpanther:PTHR11384:SF24,SMART_domains:SM00382,Superfamily_domains:SSF52540		G/W		A	high	1970/6238		getma.org/?cm=msa&ty=f&p=ABCD2_HUMAN&rb=518&re=637&var=G612W	deleterious(0)				YES	ABCD2,missense_variant,p.Gly612Trp,ENST00000308666,NM_005164.3;							MODERATE	1834/2223	G612W	ABCD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000310688		CCDS8734.1			1	
PARS2	0	LGGM	GRCh37	1	55224246	55224246	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	47	3	.	.	ENST00000371279.3:c.589G>T	p.Gly197Cys	p.G197C	ENST00000371279	NM_152268.3	197	Ggt/Tgt	0	1	1	UPI00000492D2	0	getma.org/pdb.php?prot=SYPM_HUMAN&from=97&to=268&var=G197C	ENST00000371279		ENSG00000162396	30563		50	4.05		HGNC	p.G197C		PARS2		SNV							ENST00000371279	protein_coding	getma.org/?cm=var&var=hg19,1,55224246,C,A&fts=all		Gene3D:3.30.930.10,Pfam_domain:PF00587,Prints_domain:PR01046,PROSITE_profiles:PS50862,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF3,Superfamily_domains:SSF55681		G/C		A	high	672/2347		getma.org/?cm=msa&ty=f&p=SYPM_HUMAN&rb=97&re=268&var=G197C	deleterious(0)				YES	PARS2,missense_variant,p.Gly197Cys,ENST00000371279,NM_152268.3;							MODERATE	589/1428	G197C	SYPM_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000360327		CCDS597.1			1	
KMT2D	0	LGGM	GRCh37	12	49448472	49448472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	14	3	.	.	ENST00000301067.7:c.239G>T	p.Arg80Leu	p.R80L	ENST00000301067	NM_003482.3	80	cGg/cTg	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067		ENSG00000167548	7133		17	0.55		HGNC	p.R80L		KMT2D		SNV			1				ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49448472,C,A&fts=all				R/L		A	neutral	239/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=1&re=138&var=R80L		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Arg80Leu,ENST00000301067,NM_003482.3;KMT2D,missense_variant,p.Arg80Leu,ENST00000547610,;							MODERATE	239/16614	R80L	KMT2D_HUMAN			Transcript		unknown(0)	.	ENSP00000301067		CCDS44873.1			1	
PDGFRL	0	LGGM	GRCh37	8	17434800	17434800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	9	3	.	.	ENST00000541323.1:c.39C>A	p.His13Gln	p.H13Q	ENST00000541323	NM_006207.2	13	caC/caA	0	1		UPI0000070143	0	NA	ENST00000251630		ENSG00000104213	8805		12	1.7		HGNC	p.H13Q		PDGFRL		SNV			1				ENST00000251630	protein_coding	getma.org/?cm=var&var=hg19,8,17434800,C,A&fts=all		Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR15360:SF1,hmmpanther:PTHR15360		H/Q		A	low	480/1901		getma.org/?cm=msa&ty=f&p=PGFRL_HUMAN&rb=1&re=76&var=H13Q	tolerated(0.3)					PDGFRL,missense_variant,p.His13Gln,ENST00000541323,NM_006207.2;PDGFRL,missense_variant,p.His13Gln,ENST00000251630,;PDGFRL,missense_variant,p.His13Gln,ENST00000398074,;							MODERATE	39/1128	H13Q	PGFRL_HUMAN			Transcript		benign(0.002)	.	ENSP00000251630		CCDS6003.1			1	
PANK2	0	LGGM	GRCh37	20	3888882	3888882	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	31	3	.	.	ENST00000316562.4:c.938C>T	p.Ala313Val	p.A313V	ENST00000316562	NM_153638.2	313	gCc/gTc	0	1	1	UPI000036701A	0	getma.org/pdb.php?prot=PANK2_HUMAN&from=212&to=567&var=A313V	ENST00000316562		ENSG00000125779	15894		34	2.115		HGNC	p.A313V		PANK2		SNV			1				ENST00000316562	protein_coding	getma.org/?cm=var&var=hg19,20,3888882,C,T&fts=all		hmmpanther:PTHR12280:SF25,hmmpanther:PTHR12280,TIGRFAM_domain:TIGR00555,Pfam_domain:PF03630,Superfamily_domains:SSF53067		A/V		T	medium	944/2280		getma.org/?cm=msa&ty=f&p=PANK2_HUMAN&rb=212&re=567&var=A313V	tolerated(0.07)	Q52M85_HUMAN,D3DVZ1_HUMAN,A4FU43_HUMAN			YES	PANK2,missense_variant,p.Ala22Val,ENST00000497424,NM_024960.4,NM_153640.2;PANK2,missense_variant,p.Ala313Val,ENST00000316562,NM_153638.2;PANK2,missense_variant,p.Ala190Val,ENST00000610179,;PANK2,intron_variant,,ENST00000495692,;PANK2,intron_variant,,ENST00000471830,;PANK2,upstream_gene_variant,,ENST00000464452,;PANK2,intron_variant,,ENST00000336066,;							MODERATE	938/1713	A313V	PANK2_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000313377		CCDS13071.2			1	
PPP5C	0	LGGM	GRCh37	19	46887060	46887060	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110467	H110467N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	30	3	.	.	ENST00000012443.4:c.723G>T	p.Gly241=	p.G241=	ENST00000012443	NM_006247.3	241	ggG/ggT	0	1	1	UPI0000041859	0		ENST00000012443		ENSG00000011485	9322		33			HGNC	p.G241G		PPP5C		SNV							ENST00000012443	protein_coding			hmmpanther:PTHR11668:SF12,hmmpanther:PTHR11668,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,PIRSF_domain:PIRSF033096,Superfamily_domains:SSF56300,Prints_domain:PR00114		G		T		826/2109				B4DDZ8_HUMAN			YES	PPP5C,synonymous_variant,p.=,ENST00000012443,NM_006247.3;PPP5C,synonymous_variant,p.=,ENST00000391919,NM_001204284.1;AC007193.9,upstream_gene_variant,,ENST00000599645,;PPP5C,synonymous_variant,p.=,ENST00000478046,;PPP5C,non_coding_transcript_exon_variant,,ENST00000487483,;PPP5C,non_coding_transcript_exon_variant,,ENST00000486994,;PPP5C,non_coding_transcript_exon_variant,,ENST00000532058,;PPP5C,non_coding_transcript_exon_variant,,ENST00000467502,;PPP5C,non_coding_transcript_exon_variant,,ENST00000491003,;PPP5C,non_coding_transcript_exon_variant,,ENST00000595055,;PPP5C,non_coding_transcript_exon_variant,,ENST00000493347,;PPP5C,upstream_gene_variant,,ENST00000525507,;PPP5C,upstream_gene_variant,,ENST00000527623,;PPP5C,upstream_gene_variant,,ENST00000492109,;PPP5C,downstream_gene_variant,,ENST00000527193,;							LOW	723/1500		PPP5_HUMAN			Transcript			.	ENSP00000012443		CCDS12684.1			1	
CNN2	0	LGGM	GRCh37	19	1036462	1036462	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	34	3	.	.	ENST00000263097.4:c.555C>A	p.Gly185=	p.G185=	ENST00000263097	NM_004368.2	185	ggC/ggA	0	1	1	UPI0000127AF5	0		ENST00000263097		ENSG00000064666	2156		37			HGNC	p.G146G		CNN2		SNV							ENST00000348419	protein_coding			Pfam_domain:PF00402,Prints_domain:PR00889,PROSITE_patterns:PS01052,PROSITE_profiles:PS51122,hmmpanther:PTHR18959,hmmpanther:PTHR18959:SF47,Superfamily_domains:SSF47576		G		A		918/2462							YES	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.=,ENST00000565096,;CNN2,synonymous_variant,p.=,ENST00000562075,;CNN2,synonymous_variant,p.=,ENST00000607102,;ABCA7,upstream_gene_variant,,ENST00000263094,NM_019112.3;ABCA7,upstream_gene_variant,,ENST00000433129,;ABCA7,upstream_gene_variant,,ENST00000524850,;ABCA7,upstream_gene_variant,,ENST00000531467,;AC011558.5,downstream_gene_variant,,ENST00000585757,;CNN2,non_coding_transcript_exon_variant,,ENST00000606983,;CNN2,downstream_gene_variant,,ENST00000562015,;CNN2,non_coding_transcript_exon_variant,,ENST00000566695,;CNN2,intron_variant,,ENST00000569352,;CNN2,upstream_gene_variant,,ENST00000564572,;ABCA7,upstream_gene_variant,,ENST00000525238,;ABCA7,upstream_gene_variant,,ENST00000526885,;ABCA7,upstream_gene_variant,,ENST00000527496,;ABCA7,upstream_gene_variant,,ENST00000530703,;							LOW	555/930		CNN2_HUMAN			Transcript			.	ENSP00000263097		CCDS12053.1			1	
CA11	0	LGGM	GRCh37	19	49147684	49147684	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	24	3	.	.	ENST00000084798.4:c.285G>T	p.Lys95Asn	p.K95N	ENST00000084798	NM_001217.3	95	aaG/aaT	0	1	1	UPI000004C652	0	getma.org/pdb.php?prot=CAH11_HUMAN&from=35&to=303&var=K95N	ENST00000084798		ENSG00000063180	1370		27	0.91		HGNC	p.K95N		CA11		SNV							ENST00000084798	protein_coding	getma.org/?cm=var&var=hg19,19,49147684,C,A&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF93,Gene3D:3.10.200.10,Pfam_domain:PF00194,SMART_domains:SM01057,Superfamily_domains:SSF51069		K/N		A	low	965/1844		getma.org/?cm=msa&ty=f&p=CAH11_HUMAN&rb=35&re=303&var=K95N	deleterious(0)				YES	CA11,missense_variant,p.Lys95Asn,ENST00000084798,NM_001217.3;CA11,upstream_gene_variant,,ENST00000596080,;SEC1P,intron_variant,,ENST00000430145,;SEC1P,intron_variant,,ENST00000474419,;SEC1P,intron_variant,,ENST00000483163,;SEC1P,intron_variant,,ENST00000521217,;							MODERATE	285/987	K95N	CAH11_HUMAN			Transcript		possibly_damaging(0.753)	.	ENSP00000084798		CCDS12729.1			1	
TLK2	0	LGGM	GRCh37	17	60629756	60629756	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	38	3	.	.	ENST00000346027.5:c.625C>A	p.Gln209Lys	p.Q209K	ENST00000346027	NM_006852.3	209	Cag/Aag	0	1		UPI00001B6B0E	0	NA	ENST00000326270		ENSG00000146872	11842		41	2.52		HGNC	p.Q31K		TLK2		SNV							ENST00000578697	protein_coding	getma.org/?cm=var&var=hg19,17,60629756,C,A&fts=all		hmmpanther:PTHR22974,hmmpanther:PTHR22974:SF20		Q/K		A	medium	893/3512		getma.org/?cm=msa&ty=f&p=TLK2_HUMAN&rb=1&re=447&var=Q209K	deleterious(0.03)	J3QS73_HUMAN,J3QQN4_HUMAN,J3KST4_HUMAN				TLK2,missense_variant,p.Gln60Lys,ENST00000582809,;TLK2,missense_variant,p.Gln209Lys,ENST00000326270,NM_001284333.1;TLK2,missense_variant,p.Gln209Lys,ENST00000346027,NM_006852.3;TLK2,missense_variant,p.Gln177Lys,ENST00000343388,NM_001112707.1,NM_001284363.1;TLK2,missense_variant,p.Gln177Lys,ENST00000542523,;TLK2,missense_variant,p.Gln139Lys,ENST00000580705,;TLK2,missense_variant,p.Gln31Lys,ENST00000578697,;TLK2,intron_variant,,ENST00000581041,;TLK2,downstream_gene_variant,,ENST00000583843,;RP11-464D20.6,downstream_gene_variant,,ENST00000583426,;TLK2,upstream_gene_variant,,ENST00000581286,;							MODERATE	625/2319	Q209K	TLK2_HUMAN			Transcript		benign(0.045)	.	ENSP00000316512		CCDS62283.1			1	
CAPN5	0	LGGM	GRCh37	11	76831788	76831788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	35	3	.	.	ENST00000278559.3:c.1320C>A	p.His440Gln	p.H440Q	ENST00000278559	NM_004055.4	440	caC/caA	0	1	1	UPI0000126E9F	0	getma.org/pdb.php?prot=CAN5_HUMAN&from=353&to=496&var=H440Q	ENST00000278559		ENSG00000149260	1482		38	2.45		HGNC	p.H480Q		CAPN5		SNV			1				ENST00000456580	protein_coding	getma.org/?cm=var&var=hg19,11,76831788,C,A&fts=all		Superfamily_domains:SSF49758,SMART_domains:SM00720,Gene3D:2.60.120.380,Pfam_domain:PF01067,hmmpanther:PTHR10183,hmmpanther:PTHR10183:SF138		H/Q		A	medium	1509/4397		getma.org/?cm=msa&ty=f&p=CAN5_HUMAN&rb=353&re=496&var=H440Q	tolerated(0.17)	E9PS73_HUMAN			YES	CAPN5,missense_variant,p.His440Gln,ENST00000278559,NM_004055.4;CAPN5,missense_variant,p.His480Gln,ENST00000456580,;CAPN5,missense_variant,p.His440Gln,ENST00000529629,;CAPN5,intron_variant,,ENST00000531028,;CAPN5,non_coding_transcript_exon_variant,,ENST00000527129,;							MODERATE	1320/1923	H440Q	CAN5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000278559		CCDS8248.1			1	
TMEM209	0	LGGM	GRCh37	7	129841822	129841822	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	34	3	.	.	ENST00000397622.2:c.441G>T	p.Ser147=	p.S147=	ENST00000397622	NM_032842.3	147	tcG/tcT	0	1	1	UPI000020FAA2	0		ENST00000397622		ENSG00000146842	21898		37			HGNC	p.S146S		TMEM209		SNV							ENST00000462753	protein_coding			Pfam_domain:PF09786,hmmpanther:PTHR21780,hmmpanther:PTHR21780:SF0,Low_complexity_(Seg):seg		S		A		564/3545				C9J5K4_HUMAN			YES	TMEM209,synonymous_variant,p.=,ENST00000397622,NM_032842.3;TMEM209,synonymous_variant,p.=,ENST00000462753,;TMEM209,synonymous_variant,p.=,ENST00000336804,;TMEM209,synonymous_variant,p.=,ENST00000473456,;TMEM209,downstream_gene_variant,,ENST00000471077,;TMEM209,downstream_gene_variant,,ENST00000471985,;RP11-775D22.3,intron_variant,,ENST00000483283,;							LOW	441/1686		TM209_HUMAN			Transcript			.	ENSP00000380747		CCDS47712.1			1	
PLAT	0	LGGM	GRCh37	8	42050655	42050655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	31	3	.	.	ENST00000220809.4:c.49G>T	p.Ala17Ser	p.A17S	ENST00000220809	NM_000930.3	17	Gca/Tca	0	1	1	UPI0000000DD4	0	NA	ENST00000220809		ENSG00000104368	9051		34	1.955		HGNC	p.A17S		PLAT		SNV							ENST00000519510	protein_coding	getma.org/?cm=var&var=hg19,8,42050655,C,A&fts=all		PIRSF_domain:PIRSF001145,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF0,Cleavage_site_(Signalp):SignalP-noTM		A/S		A	medium	306/2706		getma.org/?cm=msa&ty=f&p=TPA_HUMAN&rb=1&re=40&var=A17S	tolerated_low_confidence(0.06)	Q6LBF5_HUMAN,E5RHG4_HUMAN,E5RGA1_HUMAN			YES	PLAT,missense_variant,p.Ala17Ser,ENST00000220809,NM_000930.3;PLAT,missense_variant,p.Ala17Ser,ENST00000270189,;PLAT,missense_variant,p.Ala17Ser,ENST00000429089,;PLAT,missense_variant,p.Ala17Ser,ENST00000352041,NM_033011.2;PLAT,missense_variant,p.Ala17Ser,ENST00000519510,;PLAT,missense_variant,p.Ala17Ser,ENST00000429710,;PLAT,missense_variant,p.Ala17Ser,ENST00000524009,;PLAT,missense_variant,p.Ala17Ser,ENST00000520523,;PLAT,missense_variant,p.Ala17Ser,ENST00000521694,;PLAT,upstream_gene_variant,,ENST00000521647,;							MODERATE	49/1689	A17S	TPA_HUMAN			Transcript		benign(0.211)	.	ENSP00000220809		CCDS6126.1			1	
BCAR3	0	LGGM	GRCh37	1	94048301	94048301	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	18	3	.	.	ENST00000370244.1:c.1243G>T	p.Val415Phe	p.V415F	ENST00000370244	NM_001261408.1	415	Gtt/Ttt	0	1		UPI000000D971	0	NA	ENST00000260502		ENSG00000137936	973		21	0.895		HGNC	p.V324F	rs748029100	BCAR3		SNV							ENST00000370247	protein_coding	getma.org/?cm=var&var=hg19,1,94048301,C,A&fts=all		hmmpanther:PTHR14247,hmmpanther:PTHR14247:SF10,Low_complexity_(Seg):seg		V/F		A	low	1486/3171	1.50E-05	getma.org/?cm=msa&ty=f&p=BCAR3_HUMAN&rb=235&re=434&var=V415F	tolerated(0.58)	B3KNL6_HUMAN				BCAR3,missense_variant,p.Val415Phe,ENST00000370244,NM_001261408.1;BCAR3,missense_variant,p.Val415Phe,ENST00000370243,NM_001261409.1;BCAR3,missense_variant,p.Val415Phe,ENST00000260502,NM_003567.3;BCAR3,missense_variant,p.Val324Phe,ENST00000370247,NM_001261410.1;BCAR3,missense_variant,p.Val91Phe,ENST00000539242,;BCAR3,non_coding_transcript_exon_variant,,ENST00000466632,;							MODERATE	1243/2478	V415F	BCAR3_HUMAN			Transcript		benign(0.001)	.	ENSP00000260502	8.24E-06	CCDS745.1			1	
ARHGAP26	0	LGGM	GRCh37	5	142150441	142150441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	37	3	.	.	ENST00000274498.4:c.115C>A	p.Leu39Ile	p.L39I	ENST00000274498	NM_015071.4	39	Ctc/Atc	0	1	1	UPI0000130D6B	0	NA	ENST00000274498		ENSG00000145819	17073		40	1.345		HGNC	p.L39I		ARHGAP26		SNV			1				ENST00000378004	protein_coding	getma.org/?cm=var&var=hg19,5,142150441,C,A&fts=all		Gene3D:1y2oA00,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08397,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF4,Superfamily_domains:SSF103657		L/I		A	low	493/6862		getma.org/?cm=msa&ty=f&p=RHG26_HUMAN&rb=27&re=232&var=L39I	tolerated(0.05)	Q9HBW4_HUMAN,Q8NFJ1_HUMAN,C9J6V4_HUMAN			YES	ARHGAP26,missense_variant,p.Leu39Ile,ENST00000378004,NM_001135608.1;ARHGAP26,missense_variant,p.Leu39Ile,ENST00000274498,NM_015071.4;ARHGAP26,upstream_gene_variant,,ENST00000378013,;							MODERATE	115/2445	L39I	RHG26_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000274498		CCDS4277.1			1	
DPH6	0	LGGM	GRCh37	15	35746956	35746956	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	41	3	.	.	ENST00000256538.4:c.378G>T	p.Val126=	p.V126=	ENST00000256538	NM_080650.3	126	gtG/gtT	0	1	1	UPI000007296C	0		ENST00000256538		ENSG00000134146	30543		44			HGNC	p.V78V		DPH6		SNV							ENST00000561411	protein_coding			Gene3D:3.40.50.620,Pfam_domain:PF01902,hmmpanther:PTHR12196,Superfamily_domains:SSF52402,TIGRFAM_domain:TIGR00290		V		A		405/2099				H0YND7_HUMAN			YES	DPH6,synonymous_variant,p.=,ENST00000256538,NM_080650.3;DPH6,synonymous_variant,p.=,ENST00000561411,;DPH6,synonymous_variant,p.=,ENST00000558266,;DPH6,non_coding_transcript_exon_variant,,ENST00000559784,;							LOW	378/804		DPH6_HUMAN			Transcript			.	ENSP00000256538		CCDS10043.1			1	
MEP1B	0	LGGM	GRCh37	18	29784201	29784201	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	32	3	.	.	ENST00000269202.6:c.425C>A	p.Ala142Glu	p.A142E	ENST00000269202	NM_005925.2	142	gCa/gAa	0	1	1	UPI0000201B8B	0	getma.org/pdb.php?prot=MEP1B_HUMAN&from=69&to=257&var=A142E	ENST00000269202		ENSG00000141434	7020		35	-0.12		HGNC	p.A142E		MEP1B		SNV							ENST00000581447	protein_coding	getma.org/?cm=var&var=hg19,18,29784201,C,A&fts=all		Gene3D:3.40.390.10,Pfam_domain:PF01400,PIRSF_domain:PIRSF001196,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF312,SMART_domains:SM00235,Superfamily_domains:SSF55486		A/E		A	neutral	472/2312		getma.org/?cm=msa&ty=f&p=MEP1B_HUMAN&rb=69&re=257&var=A142E	tolerated(0.93)	J3KRK1_HUMAN			YES	MEP1B,missense_variant,p.Ala142Glu,ENST00000269202,NM_005925.2;MEP1B,missense_variant,p.Ala142Glu,ENST00000581447,;MEP1B,missense_variant,p.Ala110Glu,ENST00000581184,;GAREM,intron_variant,,ENST00000583696,;MEP1B,downstream_gene_variant,,ENST00000579919,;							MODERATE	425/2106	A142E	MEP1B_HUMAN			Transcript		benign(0.008)	.	ENSP00000269202		CCDS45846.1			1	
ASZ1	0	LGGM	GRCh37	7	117007467	117007467	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110467	H110467N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	21	3	.	.	ENST00000284629.2:c.1214T>C	p.Leu405Ser	p.L405S	ENST00000284629	NM_130768.2	405	tTg/tCg	0	1	1	UPI0000070EE2	0	NA	ENST00000284629		ENSG00000154438	1350		24	1.845		HGNC	p.L405S		ASZ1		SNV							ENST00000284629	protein_coding	getma.org/?cm=var&var=hg19,7,117007467,A,G&fts=all		hmmpanther:PTHR24157,Superfamily_domains:0051779		L/S		G	low	1277/1865		getma.org/?cm=msa&ty=f&p=ASZ1_HUMAN&rb=335&re=475&var=L405S	deleterious(0)	C9JP59_HUMAN,B7ZM20_HUMAN			YES	ASZ1,missense_variant,p.Leu405Ser,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,;							MODERATE	1214/1428	L405S	ASZ1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000284629		CCDS5772.1			1	
TOP2B	0	LGGM	GRCh37	3	25650711	25650711	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	33	3	.	.	ENST00000435706.2:c.4041G>T	p.Val1347=	p.V1347=	ENST00000435706	NM_001068.3	1347	gtG/gtT	0	1		UPI000013719A	0		ENST00000264331		ENSG00000077097	11990		36			HGNC	p.V204V		TOP2B		SNV							ENST00000540199	protein_coding			hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36		V		A		4056/5189				Q8WTY5_HUMAN,Q6LC06_HUMAN,Q6LBI8_HUMAN,B4DLV2_HUMAN				TOP2B,synonymous_variant,p.=,ENST00000435706,NM_001068.3;TOP2B,synonymous_variant,p.=,ENST00000264331,;TOP2B,synonymous_variant,p.=,ENST00000542520,;TOP2B,synonymous_variant,p.=,ENST00000540199,;TOP2B,downstream_gene_variant,,ENST00000475717,;TOP2B,3_prime_UTR_variant,,ENST00000413971,;							LOW	4056/4881		TOP2B_HUMAN			Transcript			.	ENSP00000264331					1	
OR10G8	0	LGGM	GRCh37	11	123900753	123900753	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	96	4	.	.	ENST00000431524.1:c.424C>A	p.Leu142Ile	p.L142I	ENST00000431524	NM_001004464.1	142	Ctt/Att	0	1	1	UPI0000040A8F	0	NA	ENST00000431524		ENSG00000234560	14845		100	1.16		HGNC	p.L142I		OR10G8		SNV							ENST00000431524	protein_coding	getma.org/?cm=var&var=hg19,11,123900753,C,A&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF146,PROSITE_profiles:PS50262		L/I		A	low	457/1045		getma.org/?cm=msa&ty=f&p=O10G8_HUMAN&rb=138&re=280&var=L142I	tolerated(0.65)				YES	OR10G8,missense_variant,p.Leu142Ile,ENST00000431524,NM_001004464.1;							MODERATE	424/936	L142I	O10G8_HUMAN			Transcript		benign(0.068)	.	ENSP00000389072		CCDS31704.1			1	
DYNC1H1	0	LGGM	GRCh37	14	102446102	102446102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	85	4	.	.	ENST00000360184.4:c.565C>A	p.Leu189Ile	p.L189I	ENST00000360184	NM_001376.4	189	Ctc/Atc	0	1	1	UPI00001B515A	0	NA	ENST00000360184		ENSG00000197102	2961		89	2.71		HGNC	p.L189I		DYNC1H1		SNV			1				ENST00000360184	protein_coding	getma.org/?cm=var&var=hg19,14,102446102,C,A&fts=all		hmmpanther:PTHR10676:SF28,hmmpanther:PTHR10676		L/I		A	medium	729/14333		getma.org/?cm=msa&ty=f&p=DYHC1_HUMAN&rb=1&re=200&var=L189I		Q92862_HUMAN,B4DSR6_HUMAN			YES	DYNC1H1,missense_variant,p.Leu189Ile,ENST00000360184,NM_001376.4;							MODERATE	565/13941	L189I	DYHC1_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000348965		CCDS9966.1			1	
CCDC127	0	LGGM	GRCh37	5	216863	216863	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	45	4	.	.	ENST00000296824.3:c.102G>T	p.Met34Ile	p.M34I	ENST00000296824	NM_145265.2	34	atG/atT	0	1	1	UPI0000071C29	0	NA	ENST00000296824		ENSG00000164366	30520		49	1.735		HGNC	p.M34I		CCDC127		SNV							ENST00000296824	protein_coding	getma.org/?cm=var&var=hg19,5,216863,C,A&fts=all		hmmpanther:PTHR31958		M/I		A	low	235/9342		getma.org/?cm=msa&ty=f&p=CC127_HUMAN&rb=1&re=79&var=M34I	deleterious(0.02)	D6R9R2_HUMAN			YES	CCDC127,missense_variant,p.Met34Ile,ENST00000296824,NM_145265.2;CCDC127,missense_variant,p.Met34Ile,ENST00000441693,;SDHA,upstream_gene_variant,,ENST00000264932,NM_004168.2;SDHA,upstream_gene_variant,,ENST00000510361,;SDHA,upstream_gene_variant,,ENST00000504309,;CTD-2083E4.4,intron_variant,,ENST00000565521,;SDHA,upstream_gene_variant,,ENST00000505555,;SDHA,upstream_gene_variant,,ENST00000504824,;SDHA,upstream_gene_variant,,ENST00000502379,;SDHA,upstream_gene_variant,,ENST00000509632,;							MODERATE	102/783	M34I	CC127_HUMAN			Transcript		benign(0.251)	.	ENSP00000296824		CCDS3852.1			1	
PCDHB10	0	LGGM	GRCh37	5	140573346	140573346	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110467	H110467N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110467N.bam, H110467T.bam	Illumina HiSeq	92	4	.	.	ENST00000239446.4:c.1221C>A	p.Gly407=	p.G407=	ENST00000239446	NM_018930.3	407	ggC/ggA	0	1	1	UPI0000048F2E	0		ENST00000239446		ENSG00000120324	8681		96			HGNC	p.G407G		PCDHB10		SNV							ENST00000239446	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		G		A		1405/3274				O95883_HUMAN			YES	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							LOW	1221/2403		PCDBA_HUMAN			Transcript			.	ENSP00000239446		CCDS4252.1			1	
POMT2	0	LGGM	GRCh37	14	77769203	77769203	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	5	2	.	.	ENST00000261534.4:c.631G>T	p.Val211Phe	p.V211F	ENST00000261534	NM_013382.5	211	Gtc/Ttc	0	1	1	UPI0000070587	0	NA	ENST00000261534		ENSG00000009830	19743		7	2.195		HGNC	p.V211F		POMT2		SNV			1				ENST00000261534	protein_coding	getma.org/?cm=var&var=hg19,14,77769203,C,A&fts=all		hmmpanther:PTHR10050,hmmpanther:PTHR10050:SF31,Pfam_domain:PF02366		V/F		A	medium	834/4876		getma.org/?cm=msa&ty=f&p=POMT2_HUMAN&rb=62&re=306&var=V211F	deleterious(0.05)	G3V4X9_HUMAN			YES	POMT2,missense_variant,p.Val211Phe,ENST00000261534,NM_013382.5;POMT2,missense_variant,p.Val120Phe,ENST00000554948,;POMT2,non_coding_transcript_exon_variant,,ENST00000556880,;POMT2,non_coding_transcript_exon_variant,,ENST00000553863,;POMT2,downstream_gene_variant,,ENST00000555788,;POMT2,3_prime_UTR_variant,,ENST00000556326,;POMT2,non_coding_transcript_exon_variant,,ENST00000452340,;POMT2,non_coding_transcript_exon_variant,,ENST00000555675,;POMT2,intron_variant,,ENST00000557289,;POMT2,upstream_gene_variant,,ENST00000554767,;POMT2,downstream_gene_variant,,ENST00000557525,;							MODERATE	631/2253	V211F	POMT2_HUMAN			Transcript		benign(0.366)	.	ENSP00000261534		CCDS9857.1			1	
NKD2	0	LGGM	GRCh37	5	1033559	1033559	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	5	2	.	.	ENST00000296849.5:c.275G>A	p.Arg92Lys	p.R92K	ENST00000296849	NM_033120.3	92	aGg/aAg	0	1	1	UPI0000073E19	0	NA	ENST00000296849		ENSG00000145506	17046		7	0.515		HGNC	p.R92K		NKD2		SNV							ENST00000274150	protein_coding	getma.org/?cm=var&var=hg19,5,1033559,G,A&fts=all		hmmpanther:PTHR22611,hmmpanther:PTHR22611:SF1		R/K		A	neutral	504/2155		getma.org/?cm=msa&ty=f&p=NKD2_HUMAN&rb=40&re=449&var=R92K	tolerated(1)				YES	NKD2,missense_variant,p.Arg92Lys,ENST00000296849,NM_033120.3;NKD2,missense_variant,p.Arg92Lys,ENST00000274150,NM_001271082.1;NKD2,missense_variant,p.Arg92Lys,ENST00000537972,;NKD2,upstream_gene_variant,,ENST00000382730,;NKD2,upstream_gene_variant,,ENST00000513296,;NKD2,upstream_gene_variant,,ENST00000523688,;NKD2,upstream_gene_variant,,ENST00000519933,;							MODERATE	275/1356	R92K	NKD2_HUMAN			Transcript		benign(0.009)	.	ENSP00000296849		CCDS3859.1			1	
ANKFY1	0	LGGM	GRCh37	17	4088316	4088316	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	11	2	.	.	ENST00000570535.1:c.1622G>C	p.Cys541Ser	p.C541S	ENST00000570535	NM_001257999.1	541	tGt/tCt	0	1		UPI0000038C5D	0	getma.org/pdb.php?prot=ANFY1_HUMAN&from=433&to=521&var=C499S	ENST00000341657		ENSG00000185722	20763		13	0.49		HGNC	p.C499S		ANKFY1		SNV							ENST00000574367	protein_coding	getma.org/?cm=var&var=hg19,17,4088316,C,G&fts=all		Prints_domain:PR01415,Superfamily_domains:SSF48403,Superfamily_domains:SSF48403,SMART_domains:SM00248,Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24189,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297		C/S		G	neutral	1532/7418		getma.org/?cm=msa&ty=f&p=ANFY1_HUMAN&rb=433&re=521&var=C499S	tolerated(0.05)	I3L1Z9_HUMAN				ANKFY1,missense_variant,p.Cys499Ser,ENST00000341657,NM_016376.3;ANKFY1,missense_variant,p.Cys541Ser,ENST00000570535,NM_001257999.1;ANKFY1,missense_variant,p.Cys499Ser,ENST00000574367,;ANKFY1,5_prime_UTR_variant,,ENST00000574736,;CYB5D2,intron_variant,,ENST00000573984,;Y_RNA,upstream_gene_variant,,ENST00000516003,;ANKFY1,non_coding_transcript_exon_variant,,ENST00000573722,;ANKFY1,3_prime_UTR_variant,,ENST00000572412,;ANKFY1,upstream_gene_variant,,ENST00000572564,;ANKFY1,downstream_gene_variant,,ENST00000575509,;ANKFY1,upstream_gene_variant,,ENST00000571547,;							MODERATE	1496/3510	C499S	ANFY1_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000343362					1	
HYDIN	0	LGGM	GRCh37	16	70866774	70866774	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	5	2	.	.	ENST00000393567.2:c.13876G>T	p.Val4626Leu	p.V4626L	ENST00000393567	NM_001270974.1	4626	Gtg/Ttg	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		7	2.075		HGNC	p.V4625L		HYDIN		SNV			1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,70866774,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		V/L		A	medium	14027/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2724&re=4636&var=V4626L		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Val4626Leu,ENST00000393567,NM_001270974.1;HYDIN,3_prime_UTR_variant,,ENST00000378856,;							MODERATE	13876/15366	V4626L	HYDIN_HUMAN			Transcript		benign(0.003)	.	ENSP00000377197		CCDS59269.1			1	
CDK11B	0	LGGM	GRCh37	1	1575740	1575740	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	20	2	.	.	ENST00000407249.3:c.1158G>T	p.Pro386=	p.P386=	ENST00000407249		386	ccG/ccT	0	1	1	UPI0000D61E1A	0		ENST00000407249		ENSG00000248333	1729		22			HGNC	p.P386P		CDK11B		SNV							ENST00000407249	protein_coding			hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF107		P		A		1158/2384				Q6P5Y5_HUMAN,Q5QPQ9_HUMAN,J3QR44_HUMAN,A4VCI5_HUMAN			YES	CDK11B,synonymous_variant,p.=,ENST00000407249,;CDK11B,synonymous_variant,p.=,ENST00000513088,;CDK11B,synonymous_variant,p.=,ENST00000317673,;CDK11B,synonymous_variant,p.=,ENST00000340677,;CDK11B,synonymous_variant,p.=,ENST00000341832,;							LOW	1158/2358					Transcript			.	ENSP00000464036					1	
TJP2	0	LGGM	GRCh37	9	71840972	71840972	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	23	2	.	.	ENST00000539225.1:c.1184C>A	p.Thr395Lys	p.T395K	ENST00000539225	NM_001170416.1	395	aCg/aAg	0	1		UPI0000141800	0	getma.org/pdb.php?prot=ZO2_HUMAN&from=298&to=382&var=T364K	ENST00000377245		ENSG00000119139	11828		25	0.44		HGNC	p.T364K		TJP2		SNV			1				ENST00000348208	protein_coding	getma.org/?cm=var&var=hg19,9,71840972,C,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF26,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		T/K		A	neutral	1299/4611		getma.org/?cm=msa&ty=f&p=ZO2_HUMAN&rb=298&re=382&var=T364K	tolerated(0.09)	U3KQJ2_HUMAN,B1AN86_HUMAN				TJP2,missense_variant,p.Thr364Lys,ENST00000377245,NM_004817.3;TJP2,missense_variant,p.Thr395Lys,ENST00000539225,NM_001170416.1;TJP2,missense_variant,p.Thr368Lys,ENST00000535702,NM_001170415.1;TJP2,missense_variant,p.Thr341Lys,ENST00000453658,NM_001170414.2;TJP2,missense_variant,p.Thr364Lys,ENST00000348208,NM_201629.3;TJP2,missense_variant,p.Thr364Lys,ENST00000265384,NM_001170630.1;TJP2,downstream_gene_variant,,ENST00000423935,;							MODERATE	1091/3573	T364K	ZO2_HUMAN			Transcript		benign(0.237)	.	ENSP00000366453		CCDS6627.1			1	
ALOX15	0	LGGM	GRCh37	17	4540538	4540538	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	12	2	.	.	ENST00000570836.1:c.823G>T	p.Glu275Ter	p.E275*	ENST00000570836		275	Gaa/Taa	0	1		UPI000013E118	0	NA	ENST00000293761		ENSG00000161905	433		14	0		HGNC	p.E297X		ALOX15		SNV							ENST00000545513	protein_coding	getma.org/?cm=var&var=hg19,17,4540538,C,A&fts=all		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF33,hmmpanther:PTHR11771,Gene3D:3.10.450.60,Pfam_domain:PF00305,Superfamily_domains:SSF48484		E/*		A	NA	837/2677		NA		I3L175_HUMAN,D3DTK1_HUMAN				ALOX15,stop_gained,p.Glu275Ter,ENST00000570836,;ALOX15,stop_gained,p.Glu275Ter,ENST00000293761,NM_001140.3;ALOX15,stop_gained,p.Glu236Ter,ENST00000574640,;ALOX15,stop_gained,p.Glu297Ter,ENST00000545513,;ALOX15,downstream_gene_variant,,ENST00000572265,;ALOX15,downstream_gene_variant,,ENST00000576394,;ALOX15,non_coding_transcript_exon_variant,,ENST00000576572,;ALOX15,downstream_gene_variant,,ENST00000573740,;							HIGH	823/1989	E275*	LOX15_HUMAN			Transcript			.	ENSP00000293761		CCDS11049.1			1	
KRT74	0	LGGM	GRCh37	12	52962089	52962089	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	45	3	.	.	ENST00000305620.2:c.1219C>A	p.Leu407Met	p.L407M	ENST00000305620	NM_175053.3	407	Ctg/Atg	0	1	1	UPI00001AEDF9	0	getma.org/pdb.php?prot=K2C74_HUMAN&from=139&to=452&var=L407M	ENST00000305620		ENSG00000170484	28929		48	3.7		HGNC	p.L407M		KRT74		SNV			1				ENST00000305620	protein_coding	getma.org/?cm=var&var=hg19,12,52962089,G,T&fts=all		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF94,Superfamily_domains:SSF64593		L/M		T	high	1267/2788		getma.org/?cm=msa&ty=f&p=K2C74_HUMAN&rb=139&re=452&var=L407M	deleterious(0.02)				YES	KRT74,missense_variant,p.Leu421Met,ENST00000549343,;KRT74,missense_variant,p.Leu407Met,ENST00000305620,NM_175053.3;KRT74,non_coding_transcript_exon_variant,,ENST00000546384,;							MODERATE	1219/1590	L407M	K2C74_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307240		CCDS8832.1			1	
HHIP	0	LGGM	GRCh37	4	145567855	145567855	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	32	3	.	.	ENST00000296575.3:c.28C>A	p.Leu10Met	p.L10M	ENST00000296575	NM_022475.2	10	Ctg/Atg	0	1	1	UPI0000071302	0	NA	ENST00000296575		ENSG00000164161	14866		35	0.345		HGNC	p.L10M		HHIP		SNV			1				ENST00000296575	protein_coding	getma.org/?cm=var&var=hg19,4,145567855,C,A&fts=all		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/M		A	neutral	683/10072		getma.org/?cm=msa&ty=f&p=HHIP_HUMAN&rb=1&re=37&var=L10M	deleterious_low_confidence(0.01)				YES	HHIP,missense_variant,p.Leu10Met,ENST00000296575,NM_022475.2;HHIP,missense_variant,p.Leu10Met,ENST00000434550,;HHIP-AS1,intron_variant,,ENST00000512359,;HHIP-AS1,upstream_gene_variant,,ENST00000508269,;HHIP-AS1,upstream_gene_variant,,ENST00000503066,;HHIP,upstream_gene_variant,,ENST00000511314,;HHIP,upstream_gene_variant,,ENST00000515080,;HHIP,upstream_gene_variant,,ENST00000505891,;							MODERATE	28/2103	L10M	HHIP_HUMAN			Transcript		unknown(0)	.	ENSP00000296575		CCDS3762.1			1	
ADAM21	0	LGGM	GRCh37	14	70924887	70924887	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	46	3	.	.	ENST00000603540.1:c.671C>A	p.Ser224Tyr	p.S224Y	ENST00000603540	NM_003813.3	224	tCt/tAt	0	1	1	UPI000013D756	0	getma.org/pdb.php?prot=ADA21_HUMAN&from=208&to=398&var=S224Y	ENST00000603540		ENSG00000139985	200		49	-0.23		HGNC	p.S224Y		ADAM21		SNV							ENST00000267499	protein_coding	getma.org/?cm=var&var=hg19,14,70924887,C,A&fts=all		Superfamily_domains:SSF55486,Gene3D:3.40.390.10,Pfam_domain:PF01421,hmmpanther:PTHR11905:SF116,hmmpanther:PTHR11905,PROSITE_profiles:PS50215		S/Y		A	neutral	929/2658		getma.org/?cm=msa&ty=f&p=ADA21_HUMAN&rb=208&re=398&var=S224Y	tolerated(1)				YES	ADAM21,missense_variant,p.Ser224Tyr,ENST00000603540,NM_003813.3;ADAM21,missense_variant,p.Ser224Tyr,ENST00000267499,;RP11-486O13.4,intron_variant,,ENST00000556646,;							MODERATE	671/2169	S224Y	ADA21_HUMAN			Transcript		benign(0.035)	.	ENSP00000474385		CCDS9804.1			1	
AFF1	0	LGGM	GRCh37	4	88026991	88026991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	40	3	.	.	ENST00000395146.4:c.1370C>A	p.Pro457His	p.P457H	ENST00000395146	NM_001166693.1	457	cCt/cAt	0	1		UPI0000125658	0	NA	ENST00000307808		ENSG00000172493	7135		43	2.445		HGNC	p.P88H		AFF1		SNV			1				ENST00000511722	protein_coding	getma.org/?cm=var&var=hg19,4,88026991,C,A&fts=all		Pfam_domain:PF05110,hmmpanther:PTHR10528,hmmpanther:PTHR10528:SF14,Low_complexity_(Seg):seg		P/H		A	medium	1769/9390		getma.org/?cm=msa&ty=f&p=AFF1_HUMAN&rb=8&re=1208&var=P450H	deleterious(0)	Q712L1_HUMAN,Q14C88_HUMAN,D6RIZ5_HUMAN,D6RAU0_HUMAN				AFF1,missense_variant,p.Pro450His,ENST00000307808,NM_005935.2;AFF1,missense_variant,p.Pro457His,ENST00000395146,NM_001166693.1;AFF1,missense_variant,p.Pro88His,ENST00000544085,;AFF1,missense_variant,p.Pro88His,ENST00000511722,;AFF1,missense_variant,p.Pro141His,ENST00000514970,;AFF1,downstream_gene_variant,,ENST00000503477,;							MODERATE	1349/3633	P450H	AFF1_HUMAN			Transcript		unknown(0)	.	ENSP00000305689		CCDS3616.1			1	
GFM2	0	LGGM	GRCh37	5	74035918	74035918	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	33	3	.	.	ENST00000296805.3:c.975G>T	p.Val325=	p.V325=	ENST00000296805	NM_032380.4	325	gtG/gtT	0	1	1	UPI0000129CA7	0		ENST00000296805		ENSG00000164347	29682		36			HGNC	p.V283V		GFM2		SNV							ENST00000509097	protein_coding			hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Pfam_domain:PF00009,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		V		A		1433/3249				D6RF75_HUMAN			YES	GFM2,synonymous_variant,p.=,ENST00000296805,NM_032380.4;GFM2,synonymous_variant,p.=,ENST00000509430,NM_001281302.1;GFM2,synonymous_variant,p.=,ENST00000345239,NM_170691.2;GFM2,synonymous_variant,p.=,ENST00000427854,NM_170681.2;GFM2,synonymous_variant,p.=,ENST00000509097,;GFM2,upstream_gene_variant,,ENST00000515125,;GFM2,upstream_gene_variant,,ENST00000514734,;GFM2,non_coding_transcript_exon_variant,,ENST00000513331,;							LOW	975/2340		RRF2M_HUMAN			Transcript			.	ENSP00000296805		CCDS4023.1			1	
HMGXB3	0	LGGM	GRCh37	5	149404051	149404051	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	43	3	.	.	ENST00000502717.1:c.1268C>A	p.Ala423Asp	p.A423D	ENST00000502717	NM_014983.2	423	gCc/gAc	0	1	1	UPI00001C1E29	0	NA	ENST00000502717		ENSG00000113716	28982		46	1.79		HGNC	p.A423D		HMGXB3		SNV							ENST00000502717	protein_coding	getma.org/?cm=var&var=hg19,5,149404051,C,A&fts=all		hmmpanther:PTHR17609,hmmpanther:PTHR17609:SF0		A/D		A	low	1732/4974		getma.org/?cm=msa&ty=f&p=HMGX3_HUMAN&rb=472&re=1536&var=A669D	deleterious(0.05)	Q6P442_HUMAN			YES	HMGXB3,missense_variant,p.Ala423Asp,ENST00000502717,NM_014983.2;HMGXB3,intron_variant,,ENST00000503427,;snoU13,downstream_gene_variant,,ENST00000458810,;HMGXB3,upstream_gene_variant,,ENST00000514469,;RPS20P4,upstream_gene_variant,,ENST00000461659,;							MODERATE	1268/3879	A669D	HMGX3_HUMAN			Transcript		benign(0.01)	.	ENSP00000421917		CCDS54935.1			1	
SPTBN1	0	LGGM	GRCh37	2	54753686	54753686	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	45	3	.	.	ENST00000356805.4:c.131G>A	p.Arg44His	p.R44H	ENST00000356805	NM_003128.2	44	cGc/cAc	0	1	1	UPI0000DBEE4B	0	NA	ENST00000356805		ENSG00000115306	11275		48	2.3		HGNC	p.R44H		SPTBN1		SNV							ENST00000389980	protein_coding	getma.org/?cm=var&var=hg19,2,54753686,G,A&fts=all		Gene3D:1.10.418.10,PIRSF_domain:PIRSF002297,Superfamily_domains:SSF47576		R/H		A	medium	412/8482		getma.org/?cm=msa&ty=f&p=SPTB2_HUMAN&rb=1&re=275&var=R44H	deleterious(0)	Q53RC4_HUMAN,F8W6C1_HUMAN,D6W5C0_HUMAN,B2ZZ89_HUMAN			YES	SPTBN1,missense_variant,p.Arg44His,ENST00000356805,NM_003128.2;SPTBN1,missense_variant,p.Arg44His,ENST00000389980,;AC092839.3,intron_variant,,ENST00000433475,;SPTBN1,non_coding_transcript_exon_variant,,ENST00000602898,;RPL23AP32,upstream_gene_variant,,ENST00000395315,;							MODERATE	131/7095	R44H	SPTB2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000349259		CCDS33198.1			1	
ZNF559-ZNF177	0	LGGM	GRCh37	19	9491939	9491939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	19	3	.	.	ENST00000434737.2:c.932C>A	p.Pro311His	p.P311H	ENST00000434737		311	cCt/cAt	0	1	1	UPI000013C64B	0	getma.org/pdb.php?prot=ZN177_HUMAN&from=138&to=163&var=P151H	ENST00000541595		ENSG00000270011	42964		22	3.38		HGNC	p.P151H		ZNF559-ZNF177		SNV							ENST00000541595	protein_coding	getma.org/?cm=var&var=hg19,19,9491939,C,A&fts=all		Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF126,PROSITE_profiles:PS50157		P/H		A	medium	1081/2435		getma.org/?cm=msa&ty=f&p=ZN177_HUMAN&rb=118&re=183&var=P151H	deleterious(0)	S4R3Q2_HUMAN			YES	ZNF559-ZNF177,missense_variant,p.Pro151His,ENST00000541595,NM_001172650.2;ZNF177,missense_variant,p.Pro151His,ENST00000602738,;ZNF177,missense_variant,p.Pro311His,ENST00000434737,;ZNF177,missense_variant,p.Pro311His,ENST00000589262,NM_001172651.1;ZNF177,missense_variant,p.Pro151His,ENST00000343499,NM_003451.2;ZNF559-ZNF177,3_prime_UTR_variant,,ENST00000446085,;ZNF177,3_prime_UTR_variant,,ENST00000602856,NM_001202425.1;ZNF177,intron_variant,,ENST00000590616,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603656,;ZNF177,downstream_gene_variant,,ENST00000592912,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605471,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603974,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000603024,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605775,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605006,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000605093,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000604886,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000593242,;ZNF559-ZNF177,downstream_gene_variant,,ENST00000604543,;							MODERATE	452/966	P151H				Transcript		probably_damaging(1)	.	ENSP00000445323		CCDS12212.1			1	
AGR3	0	LGGM	GRCh37	7	16913426	16913426	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	46	3	.	.	ENST00000310398.2:c.151G>T	p.Gly51Cys	p.G51C	ENST00000310398	NM_176813.3	51	Ggt/Tgt	0	1	1	UPI0000040D21	0	getma.org/pdb.php?prot=AGR3_HUMAN&from=43&to=124&var=G51C	ENST00000310398		ENSG00000173467	24167		49	2.345		HGNC	p.G51C	COSM3879943	AGR3		SNV						1	ENST00000402239	protein_coding	getma.org/?cm=var&var=hg19,7,16913426,C,A&fts=all		Gene3D:3.40.30.10,Pfam_domain:PF13899,hmmpanther:PTHR15337,hmmpanther:PTHR15337:SF5,Superfamily_domains:SSF52833		G/C		A	medium	222/749		getma.org/?cm=msa&ty=f&p=AGR3_HUMAN&rb=43&re=124&var=G51C	deleterious(0)				YES	AGR3,missense_variant,p.Gly51Cys,ENST00000310398,NM_176813.3;AGR3,missense_variant,p.Gly51Cys,ENST00000402239,;AGR3,missense_variant,p.Gly30Cys,ENST00000414935,;AGR3,non_coding_transcript_exon_variant,,ENST00000486448,;					1		MODERATE	151/501	G51C	AGR3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000308606		CCDS5365.1			1	
STIL	0	LGGM	GRCh37	1	47717124	47717124	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	40	3	.	.	ENST00000371877.3:c.3551G>T	p.Cys1184Phe	p.C1184F	ENST00000371877		1184	tGt/tTt	0	1		UPI0000470133	0	NA	ENST00000360380		ENSG00000123473	10879		43	0.895		HGNC	p.C1184F		STIL		SNV			1				ENST00000371877	protein_coding	getma.org/?cm=var&var=hg19,1,47717124,C,A&fts=all		hmmpanther:PTHR15128:SF0,hmmpanther:PTHR15128		C/F		A	low	3912/5225		getma.org/?cm=msa&ty=f&p=STIL_HUMAN&rb=1139&re=1215&var=C1183F	deleterious(0.03)	Q5T0D0_HUMAN				STIL,missense_variant,p.Cys1183Phe,ENST00000360380,NM_001282936.1;STIL,missense_variant,p.Cys1183Phe,ENST00000337817,NM_001048166.1,NM_003035.2;STIL,missense_variant,p.Cys1184Phe,ENST00000371877,;STIL,missense_variant,p.Cys1183Phe,ENST00000243182,;STIL,missense_variant,p.Cys1166Phe,ENST00000396221,NM_001282937.1;							MODERATE	3548/3864	C1183F	STIL_HUMAN			Transcript		benign(0.182)	.	ENSP00000353544		CCDS548.1			1	
THSD4	0	LGGM	GRCh37	15	72040918	72040918	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	13	3	.	.	ENST00000355327.3:c.2400C>A	p.Thr800=	p.T800=	ENST00000355327		800	acC/acA	0	1	1	UPI00001A797D	0		ENST00000355327		ENSG00000187720	25835		16			HGNC	p.T800T		THSD4		SNV							ENST00000261862	protein_coding			PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF16,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		T		A		2534/9200							YES	THSD4,synonymous_variant,p.=,ENST00000355327,;THSD4,synonymous_variant,p.=,ENST00000261862,NM_024817.2;THSD4,synonymous_variant,p.=,ENST00000357769,NM_001286429.1;THSD4,non_coding_transcript_exon_variant,,ENST00000567838,;							LOW	2400/3057		THSD4_HUMAN			Transcript			.	ENSP00000347484		CCDS10238.2			1	
MYO1D	0	LGGM	GRCh37	17	31098153	31098153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	28	3	.	.	ENST00000318217.5:c.704C>A	p.Ala235Asp	p.A235D	ENST00000318217	NM_015194.1	235	gCt/gAt	0	1	1	UPI0000186004	0	getma.org/pdb.php?prot=MYO1D_HUMAN&from=11&to=682&var=A235D	ENST00000318217		ENSG00000176658	7598		31	-0.155		HGNC	p.A235D		MYO1D		SNV							ENST00000579584	protein_coding	getma.org/?cm=var&var=hg19,17,31098153,G,T&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF333,SMART_domains:SM00242,Superfamily_domains:SSF52540		A/D		T	neutral	1009/5563		getma.org/?cm=msa&ty=f&p=MYO1D_HUMAN&rb=11&re=682&var=A235D	tolerated(0.13)	Q8N618_HUMAN,K7EIG7_HUMAN			YES	MYO1D,missense_variant,p.Ala235Asp,ENST00000318217,NM_015194.1;MYO1D,missense_variant,p.Ala147Asp,ENST00000394649,;MYO1D,missense_variant,p.Ala235Asp,ENST00000579584,;MYO1D,missense_variant,p.Ala235Asp,ENST00000583621,;							MODERATE	704/3021	A235D	MYO1D_HUMAN			Transcript		benign(0.014)	.	ENSP00000324527		CCDS32615.1			1	
DDX11	0	LGGM	GRCh37	12	31244784	31244784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	37	3	.	.	ENST00000407793.2:c.1221C>A	p.Ser407Arg	p.S407R	ENST00000407793	NM_030653.3	407	agC/agA	0	1		UPI000006F88F	0	getma.org/pdb.php?prot=DDX12_HUMAN&from=250&to=434&var=S426R	ENST00000545668		ENSG00000013573	2736		40	2.795		HGNC	p.S407R	rs138190731	DDX11	0.000121	SNV	T:0.0002		1	0.0012			ENST00000542838	protein_coding	getma.org/?cm=var&var=hg19,12,31244784,C,A&fts=all		PROSITE_profiles:PS51193,hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF35,Pfam_domain:PF06733,TIGRFAM_domain:TIGR00604,SMART_domains:SM00488,Superfamily_domains:SSF52540		S/R	T:0.0001	A	medium	1301/3751	0.000213	getma.org/?cm=msa&ty=f&p=DDX12_HUMAN&rb=250&re=434&var=S426R	deleterious(0.02)	F5GXJ8_HUMAN				DDX11,missense_variant,p.Ser407Arg,ENST00000407793,NM_030653.3,NM_152438.1;DDX11,missense_variant,p.Ser407Arg,ENST00000545668,NM_001257144.1;DDX11,missense_variant,p.Ser407Arg,ENST00000350437,NM_004399.2;DDX11,missense_variant,p.Ser381Arg,ENST00000228264,NM_001257145.1;DDX11,missense_variant,p.Ser407Arg,ENST00000542838,;DDX11,3_prime_UTR_variant,,ENST00000251758,;DDX11,downstream_gene_variant,,ENST00000438391,;DDX11,downstream_gene_variant,,ENST00000415475,;DDX11,downstream_gene_variant,,ENST00000544652,;DDX11,upstream_gene_variant,,ENST00000539673,;DDX11,downstream_gene_variant,,ENST00000545717,;DDX11,3_prime_UTR_variant,,ENST00000435753,;DDX11,3_prime_UTR_variant,,ENST00000539049,;DDX11,3_prime_UTR_variant,,ENST00000542129,;DDX11,non_coding_transcript_exon_variant,,ENST00000536265,;DDX11,non_coding_transcript_exon_variant,,ENST00000543026,;DDX11,non_coding_transcript_exon_variant,,ENST00000536580,;DDX11,intron_variant,,ENST00000538345,;DDX11,downstream_gene_variant,,ENST00000535158,;DDX11,downstream_gene_variant,,ENST00000540935,;DDX11,downstream_gene_variant,,ENST00000542244,;DDX11,downstream_gene_variant,,ENST00000542242,;DDX11,upstream_gene_variant,,ENST00000543511,;DDX11,upstream_gene_variant,,ENST00000539699,;	0.000116						MODERATE	1221/2913	S426R	DDX11_HUMAN			Transcript		probably_damaging(0.998)	common_variant	ENSP00000440402	0.000297	CCDS44856.1			1	
AKAP10	0	LGGM	GRCh37	17	19850726	19850726	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	45	3	.	.	ENST00000225737.6:c.970A>G	p.Ile324Val	p.I324V	ENST00000225737	NM_007202.3	324	Atc/Gtc	0	1	1	UPI000006E08E	0	NA	ENST00000225737		ENSG00000108599	368		48	1.675		HGNC	p.I324V		AKAP10		SNV			1				ENST00000395536	protein_coding	getma.org/?cm=var&var=hg19,17,19850726,T,C&fts=all		PROSITE_profiles:PS50132,hmmpanther:PTHR13155,Gene3D:1.10.167.10,Pfam_domain:PF00615,SMART_domains:SM00315,Superfamily_domains:SSF48097		I/V		C	low	1128/4072		getma.org/?cm=msa&ty=f&p=AKA10_HUMAN&rb=257&re=368&var=I324V	tolerated(0.16)				YES	AKAP10,missense_variant,p.Ile324Val,ENST00000225737,NM_007202.3;AKAP10,missense_variant,p.Ile324Val,ENST00000395536,;AKAP10,missense_variant,p.Ile22Val,ENST00000460046,;AKAP10,3_prime_UTR_variant,,ENST00000582611,;AKAP10,non_coding_transcript_exon_variant,,ENST00000474245,;							MODERATE	970/1989	I324V	AKA10_HUMAN			Transcript		possibly_damaging(0.56)	.	ENSP00000225737		CCDS11214.1			1	
DNAH3	0	LGGM	GRCh37	16	20975709	20975709	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	43	3	.	.	ENST00000261383.3:c.9497G>T	p.Arg3166Met	p.R3166M	ENST00000261383	NM_017539.1	3166	aGg/aTg	0	1	1	UPI00001100F2	0	getma.org/pdb.php?prot=DYH3_HUMAN&from=3044&to=3274&var=R3166M	ENST00000261383		ENSG00000158486	2949		46	1.085		HGNC	p.R3166M		DNAH3		SNV							ENST00000261383	protein_coding	getma.org/?cm=var&var=hg19,16,20975709,C,A&fts=all		Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242		R/M		A	low	9497/12394		getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=3044&re=3274&var=R3166M	tolerated(0.1)				YES	DNAH3,missense_variant,p.Arg3166Met,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;							MODERATE	9497/12351	R3166M	DYH3_HUMAN			Transcript		benign(0.102)	.	ENSP00000261383		CCDS10594.1			1	
DCHS2	0	LGGM	GRCh37	4	155254281	155254281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	12	3	.	.	ENST00000357232.4:c.1582G>T	p.Ala528Ser	p.A528S	ENST00000357232	NM_017639.3	528	Gcc/Tcc	0	1	1	UPI000035B018	0	getma.org/pdb.php?prot=PCD23_HUMAN&from=485&to=575&var=A528S	ENST00000357232		ENSG00000197410	23111		15	-0.825		HGNC	p.A528S		DCHS2		SNV							ENST00000357232	protein_coding	getma.org/?cm=var&var=hg19,4,155254281,C,A&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF257,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/S		A	neutral	1582/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=485&re=575&var=A528S	tolerated(1)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Ala528Ser,ENST00000357232,NM_017639.3;DCHS2,missense_variant,p.Ala1027Ser,ENST00000339452,NM_001142552.1;DCHS2,non_coding_transcript_exon_variant,,ENST00000507542,;DCHS2,downstream_gene_variant,,ENST00000504580,;							MODERATE	1582/8751	A528S	PCD23_HUMAN			Transcript		benign(0.017)	.	ENSP00000349768		CCDS3785.1			1	
SRRT	0	LGGM	GRCh37	7	100483538	100483538	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	35	3	.	.	ENST00000347433.4:c.1434C>A	p.Ile478=	p.I478=	ENST00000347433		478	atC/atA	0	1	1	UPI0000126098	0		ENST00000347433		ENSG00000087087	24101		38			HGNC	p.I108I		SRRT		SNV							ENST00000448764	protein_coding			hmmpanther:PTHR13165,hmmpanther:PTHR13165:SF0,Superfamily_domains:SSF54928		I		A		1592/2904							YES	SRRT,synonymous_variant,p.=,ENST00000388793,NM_015908.5,NM_001128852.1;SRRT,synonymous_variant,p.=,ENST00000457580,NM_001128853.1,NM_001128854.1;SRRT,synonymous_variant,p.=,ENST00000347433,;SRRT,synonymous_variant,p.=,ENST00000432932,;SRRT,synonymous_variant,p.=,ENST00000448764,;ACHE,downstream_gene_variant,,ENST00000302913,NM_015831.2;ACHE,downstream_gene_variant,,ENST00000412389,;ACHE,downstream_gene_variant,,ENST00000411582,;ACHE,downstream_gene_variant,,ENST00000241069,NM_000665.3;ACHE,downstream_gene_variant,,ENST00000428317,;ACHE,downstream_gene_variant,,ENST00000419336,NM_001282449.1;ACHE,downstream_gene_variant,,ENST00000430554,;ACHE,downstream_gene_variant,,ENST00000426415,;UFSP1,downstream_gene_variant,,ENST00000388761,NM_001015072.3;SRRT,downstream_gene_variant,,ENST00000431645,;SRRT,3_prime_UTR_variant,,ENST00000449389,;SRRT,non_coding_transcript_exon_variant,,ENST00000466432,;ACHE,downstream_gene_variant,,ENST00000454485,;ACHE,downstream_gene_variant,,ENST00000442452,;ACHE,downstream_gene_variant,,ENST00000440755,;SRRT,downstream_gene_variant,,ENST00000423692,;SRRT,downstream_gene_variant,,ENST00000474896,;SRRT,upstream_gene_variant,,ENST00000478693,;SRRT,downstream_gene_variant,,ENST00000460194,;SRRT,upstream_gene_variant,,ENST00000487311,;SRRT,downstream_gene_variant,,ENST00000448716,;SRRT,upstream_gene_variant,,ENST00000477529,;SRRT,upstream_gene_variant,,ENST00000445337,;SRRT,upstream_gene_variant,,ENST00000469602,;							LOW	1434/2631		SRRT_HUMAN			Transcript			.	ENSP00000314491		CCDS34709.1			1	
SELPLG	0	LGGM	GRCh37	12	109017651	109017680	+	inframe_deletion	In_Frame_Del	DEL	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	-	novel	by Submitter	H110610	H110610N.bam	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT	GAGTGGTCTGTGCCTCCGTGGGCACTGGTT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	19	11	.	.	ENST00000228463.6:c.452_481delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln151_Thr160del	p.Q151_T160del	ENST00000228463	NM_001206609.1	151	cAACCAGTGCCCACGGAGGCACAGACCACTCca/cca	0	1		UPI0000135861	0		ENST00000550948		ENSG00000110876	10722	0.106	30			HGNC	p.131_135del	rs63748999,COSM1358534,COSM1358533	SELPLG	0.229	deletion	-:0.1173			0.105		0,1,1	ENST00000388962	protein_coding		-:0.0817	hmmpanther:PTHR17384,hmmpanther:PTHR17384:SF0,Low_complexity_(Seg):seg		QPVPTEAQTTP/P	-:0.1694	-		629-658/2256	0.157			B4DT54_HUMAN	-:0.0879	-:0.13		SELPLG,splice_acceptor_variant,,ENST00000388962,NM_003006.4;SELPLG,inframe_deletion,p.Gln135_Thr144del,ENST00000550948,;SELPLG,inframe_deletion,p.Gln151_Thr160del,ENST00000228463,NM_001206609.1;RP11-689B22.2,upstream_gene_variant,,ENST00000550306,;	0.348	-:0.1114			0,1,1		MODERATE	404-433/1239		SELPL_HUMAN	0.166	-:0.0835	Transcript			common_variant	ENSP00000447752	0.171	CCDS31895.2	0.174	-:0.1779	1	
MSX1	0	LGGM	GRCh37	4	4864659	4864659	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	18	4	.	.	ENST00000382723.4:c.701A>G	p.Glu234Gly	p.E234G	ENST00000382723	NM_002448.3	234	gAg/gGg	0	1	1	UPI0000D474F4	0	NA	ENST00000382723		ENSG00000163132	7391		22	2.7		HGNC	p.E234G		MSX1		SNV			1				ENST00000382723	protein_coding	getma.org/?cm=var&var=hg19,4,4864659,A,G&fts=all		hmmpanther:PTHR24338:SF3,hmmpanther:PTHR24338,SMART_domains:SM00389		E/G		G	medium	935/1939		getma.org/?cm=msa&ty=f&p=MSX1_HUMAN&rb=224&re=297&var=E228G	deleterious(0)	E9KY19_HUMAN,E9KY18_HUMAN,E9KY17_HUMAN,E9KY16_HUMAN,E9KY15_HUMAN,E9KY14_HUMAN,E9KY13_HUMAN,E9KY12_HUMAN,E9KY11_HUMAN,E9KY10_HUMAN,E9KY09_HUMAN,E9KY08_HUMAN,E9KY07_HUMAN,E9KY06_HUMAN,E9KY05_HUMAN,E9KY04_HUMAN,E9KY03_HUMAN,E9KY02_HUMAN,E9KY01_HUMAN,E9KY00_HUMAN,E9KXZ9_HUMAN,E9KXZ8_HUMAN,E9KXZ7_HUMAN,E9KXZ6_HUMAN,E9KXZ5_HUMAN,E9KXZ4_HUMAN,E9KXZ3_HUMAN,E9KXZ2_HUMAN,E9KXZ1_HUMAN,E9KXZ0_HUMAN,E9KXY9_HUMAN,E9KXY8_HUMAN,E9KXY7_HUMAN,E9KXY6_HUMAN,E9KXY5_HUMAN,E9KXY4_HUMAN,E9KXY3_HUMAN,E9KXY2_HUMAN,E9KXY1_HUMAN,E9KXY0_HUMAN,E9KXX9_HUMAN,E9KXX8_HUMAN,E9KXX7_HUMAN,E9KXX6_HUMAN,E9KXX5_HUMAN,E9KXX4_HUMAN,E9KXX3_HUMAN,E9KXX2_HUMAN,E9KXX1_HUMAN,E9KXX0_HUMAN,E9KXW9_HUMAN,E9KXW8_HUMAN,E9KXW7_HUMAN,E9KXW6_HUMAN,E9KXW5_HUMAN,E9KXW4_HUMAN,E9KXW3_HUMAN,E9KXW2_HUMAN,E9KXW1_HUMAN,E9KXW0_HUMAN,E9KXV9_HUMAN,E9KXV8_HUMAN,E9KXV7_HUMAN,E9KXV6_HUMAN,E9KXV5_HUMAN,E9KXV4_HUMAN,E9KXV3_HUMAN,E9KXV2_HUMAN,E9KXV1_HUMAN,E9KXV0_HUMAN,E9KXU9_HUMAN,E9KXU8_HUMAN,E9KXU7_HUMAN,E9KXU6_HUMAN,E9KXU5_HUMAN,E9KXU4_HUMAN,E9KXU3_HUMAN,E9KXU2_HUMAN,E9KXU1_HUMAN,E9KXU0_HUMAN,E9KXT9_HUMAN,E9KXT8_HUMAN,E9KXT7_HUMAN,E9KXT6_HUMAN,E9KXT5_HUMAN,E9KXT4_HUMAN,E9KXT3_HUMAN,E9KXT2_HUMAN,E9KXT1_HUMAN,E9KXT0_HUMAN,E9KXS9_HUMAN,E9KXS8_HUMAN,E9KXS7_HUMAN,E9KXS6_HUMAN,A0SZU5_HUMAN			YES	MSX1,missense_variant,p.Glu234Gly,ENST00000382723,NM_002448.3;MSX1,non_coding_transcript_exon_variant,,ENST00000468421,;							MODERATE	701/912	E228G	MSX1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000372170		CCDS3378.2			1	
P2RY12	0	LGGM	GRCh37	3	151056346	151056346	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	63	4	.	.	ENST00000302632.3:c.288G>A	p.Val96=	p.V96=	ENST00000302632	NM_022788.4	96	gtG/gtA	0	1	1	UPI0000001662	0		ENST00000302632		ENSG00000169313	18124		67			HGNC	p.V96V		P2RY12		SNV			1				ENST00000302632	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		V		T		588/1766							YES	P2RY12,synonymous_variant,p.=,ENST00000302632,NM_022788.4,NM_176876.2;MED12L,intron_variant,,ENST00000474524,NM_053002.4;MED12L,intron_variant,,ENST00000273432,;MED12L,downstream_gene_variant,,ENST00000480026,;MED12L,intron_variant,,ENST00000491549,;MED12L,intron_variant,,ENST00000468305,;P2RY12,non_coding_transcript_exon_variant,,ENST00000468596,;							LOW	288/1029		P2Y12_HUMAN			Transcript			.	ENSP00000307259		CCDS3159.1			1	
FRMPD2	0	LGGM	GRCh37	10	49376682	49376682	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	51	5	.	.	ENST00000374201.3:c.3493C>G	p.Arg1165Gly	p.R1165G	ENST00000374201	NM_001018071.3	1165	Cga/Gga	0	1	1	UPI0000D60F5F	0	getma.org/pdb.php?prot=FRPD2_HUMAN&from=1079&to=1167&var=R1165G	ENST00000374201		ENSG00000170324	28572		56	2.945		HGNC	p.R117G		FRMPD2		SNV							ENST00000474573	protein_coding	getma.org/?cm=var&var=hg19,10,49376682,G,C&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR19964:SF42,hmmpanther:PTHR19964,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/G		C	medium	3796/4997		getma.org/?cm=msa&ty=f&p=FRPD2_HUMAN&rb=1079&re=1167&var=R1165G	deleterious(0)				YES	FRMPD2,missense_variant,p.Arg1165Gly,ENST00000374201,NM_001018071.3,NM_001042512.2;FRMPD2,missense_variant,p.Arg1133Gly,ENST00000407470,;FRMPD2,missense_variant,p.Arg1140Gly,ENST00000305531,;FRMPD2,missense_variant,p.Arg117Gly,ENST00000474573,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000463706,;FRMPD2,non_coding_transcript_exon_variant,,ENST00000491130,;							MODERATE	3493/3930	R1165G	FRPD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000363317		CCDS31195.1			1	
NRSN2	0	LGGM	GRCh37	20	334090	334090	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	54	5	.	.	ENST00000382291.3:c.426G>A	p.Leu142=	p.L142=	ENST00000382291	NM_024958.2	142	ctG/ctA	0	1		UPI0000037BF7	0		ENST00000382285		ENSG00000125841	16229		59			HGNC	p.L142L		NRSN2		SNV							ENST00000382291	protein_coding			hmmpanther:PTHR14796,hmmpanther:PTHR14796:SF4,Pfam_domain:PF14927		L		A		664/1047								NRSN2,synonymous_variant,p.=,ENST00000382291,NM_024958.2;NRSN2,synonymous_variant,p.=,ENST00000382285,;NRSN2,synonymous_variant,p.=,ENST00000470439,;NRSN2,synonymous_variant,p.=,ENST00000609504,;NRSN2,synonymous_variant,p.=,ENST00000609179,;NRSN2,intron_variant,,ENST00000608875,;NRSN2,intron_variant,,ENST00000608736,;NRSN2,non_coding_transcript_exon_variant,,ENST00000492242,;NRSN2,intron_variant,,ENST00000608467,;							LOW	426/615		NRSN2_HUMAN			Transcript			.	ENSP00000371722		CCDS12996.1			1	
IGSF9B	0	LGGM	GRCh37	11	133790697	133790697	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	13	5	.	.	ENST00000533871.2:c.2923C>A	p.Pro975Thr	p.P975T	ENST00000533871	NM_001277285.1	975	Cct/Act	0	1		UPI0001545E3E	0	NA	ENST00000321016		ENSG00000080854	32326		18	0.345		HGNC	p.P817T		IGSF9B		SNV							ENST00000533871	protein_coding	getma.org/?cm=var&var=hg19,11,133790697,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF575		P/T		T	neutral	3154/7309		getma.org/?cm=msa&ty=f&p=TUTLB_HUMAN&rb=899&re=1098&var=P975T	deleterious_low_confidence(0.04)					IGSF9B,missense_variant,p.Pro975Thr,ENST00000321016,;IGSF9B,missense_variant,p.Pro975Thr,ENST00000533871,NM_001277285.1;IGSF9B,downstream_gene_variant,,ENST00000527648,;							MODERATE	2923/4050	P975T	TUTLB_HUMAN			Transcript		benign(0.139)	.	ENSP00000317980					1	
FEZ1	0	LGGM	GRCh37	11	125324031	125324031	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	10	6	.	.	ENST00000278919.3:c.1015A>C	p.Lys339Gln	p.K339Q	ENST00000278919	NM_005103.4	339	Aaa/Caa	0	1	1	UPI000012A6FE	0	NA	ENST00000278919		ENSG00000149557	3659		16	1.7		HGNC	p.K339Q		FEZ1		SNV							ENST00000278919	protein_coding	getma.org/?cm=var&var=hg19,11,125324031,T,G&fts=all		hmmpanther:PTHR12394,hmmpanther:PTHR12394:SF4		K/Q		G	low	1250/1748		getma.org/?cm=msa&ty=f&p=FEZ1_HUMAN&rb=301&re=392&var=K339Q	deleterious(0.04)	E9PNH2_HUMAN			YES	FEZ1,missense_variant,p.Lys339Gln,ENST00000278919,NM_005103.4;FEZ1,downstream_gene_variant,,ENST00000577924,;FEZ1,non_coding_transcript_exon_variant,,ENST00000527350,;FEZ1,upstream_gene_variant,,ENST00000526507,;FEZ1,upstream_gene_variant,,ENST00000532778,;FEZ1,non_coding_transcript_exon_variant,,ENST00000524427,;FEZ1,non_coding_transcript_exon_variant,,ENST00000528863,;FEZ1,upstream_gene_variant,,ENST00000530096,;FEZ1,downstream_gene_variant,,ENST00000392709,;FEZ1,downstream_gene_variant,,ENST00000533294,;							MODERATE	1015/1179	K339Q	FEZ1_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000278919		CCDS31716.1			1	
NSD1	0	LGGM	GRCh37	5	176639168	176639168	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	25	6	.	.	ENST00000439151.2:c.3768G>T	p.Leu1256Phe	p.L1256F	ENST00000439151	NM_022455.4	1256	ttG/ttT	0	1	1	UPI000006F9C6	0	NA	ENST00000439151		ENSG00000165671	14234		31	0		HGNC	p.L19F		NSD1		SNV			1				ENST00000375350	protein_coding	getma.org/?cm=var&var=hg19,5,176639168,G,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF312		L/F		T	neutral	3813/12892		getma.org/?cm=msa&ty=f&p=NSD1_HUMAN&rb=395&re=1258&var=L1256F	tolerated_low_confidence(0.37)	Q9H6H8_HUMAN,Q9H6B5_HUMAN,Q96MN8_HUMAN,Q96DQ7_HUMAN,Q658U6_HUMAN,D6RE14_HUMAN,D6RBP3_HUMAN,D6RA90_HUMAN			YES	NSD1,missense_variant,p.Leu1256Phe,ENST00000439151,NM_022455.4;NSD1,missense_variant,p.Leu1153Phe,ENST00000361032,;NSD1,missense_variant,p.Leu987Phe,ENST00000354179,NM_172349.2;NSD1,missense_variant,p.Leu987Phe,ENST00000347982,;NSD1,downstream_gene_variant,,ENST00000508896,;NSD1,missense_variant,p.Leu19Phe,ENST00000375350,;							MODERATE	3768/8091	L1256F	NSD1_HUMAN			Transcript		benign(0.009)	.	ENSP00000395929		CCDS4412.1			1	
PER3	0	LGGM	GRCh37	1	7889973	7890026	+	inframe_deletion	In_Frame_Del	DEL	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	-	novel	by Submitter	H110610	H110610N.bam	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	34	13	.	.	ENST00000361923.2:c.3019_3072del	p.Ala1007_Ser1024del	p.A1007_S1024del	ENST00000361923	NM_016831.1	980	gAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAag/gag	0	1	1	UPI0000167B1D	0		ENST00000361923		ENSG00000049246	8847		47			HGNC	p.980_998del	TMP_ESP_1_7889973_7890026	PER3		deletion	-:0.1317						ENST00000361923	protein_coding			Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		ENPSHPTASALSTGSPPMK/E	-:0.1768	-		3114-3167/6203				Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,inframe_deletion,p.Ala1016_Ser1033del,ENST00000377532,;PER3,inframe_deletion,p.Ala1007_Ser1024del,ENST00000361923,NM_016831.1;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;							MODERATE	2939-2992/3606		PER3_HUMAN			Transcript	80		.	ENSP00000355031		CCDS89.1			1	
PXDN	0	LGGM	GRCh37	2	1652353	1652353	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	12	7	.	.	ENST00000252804.4:c.3199A>T	p.Thr1067Ser	p.T1067S	ENST00000252804	NM_012293.1	1067	Acc/Tcc	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=741&to=1289&var=T1067S	ENST00000252804		ENSG00000130508	14966		19	2.005		HGNC	p.T1067S		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1652353,T,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113,Prints_domain:PR00457		T/S		A	medium	3250/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=741&re=1289&var=T1067S	deleterious(0)				YES	PXDN,missense_variant,p.Thr1067Ser,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;							MODERATE	3199/4440	T1067S	PXDN_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000252804		CCDS46221.1			1	
COL13A1	0	LGGM	GRCh37	10	71664717	71664717	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	26	8	.	.	ENST00000398978.3:c.915+2T>G		p.X305_splice	ENST00000398978	NM_001130103.1			0	1	1	UPI000046FD72	0		ENST00000398978		ENSG00000197467	2190		34			HGNC	-		COL13A1		SNV							ENST00000398973	protein_coding							G		-/3093				Q9UP45_HUMAN			YES	COL13A1,splice_donor_variant,,ENST00000356340,;COL13A1,splice_donor_variant,,ENST00000398974,;COL13A1,splice_donor_variant,,ENST00000398972,;COL13A1,splice_donor_variant,,ENST00000398978,NM_001130103.1;COL13A1,splice_donor_variant,,ENST00000398971,;COL13A1,splice_donor_variant,,ENST00000398968,;COL13A1,splice_donor_variant,,ENST00000398966,;COL13A1,splice_donor_variant,,ENST00000398973,;COL13A1,splice_donor_variant,,ENST00000398964,;COL13A1,splice_donor_variant,,ENST00000354547,NM_080801.3;COL13A1,splice_donor_variant,,ENST00000357811,NM_080802.3;COL13A1,splice_donor_variant,,ENST00000398969,;COL13A1,splice_donor_variant,,ENST00000520267,NM_080798.3;COL13A1,splice_donor_variant,,ENST00000522165,NM_080800.3;COL13A1,splice_donor_variant,,ENST00000517713,;COL13A1,splice_donor_variant,,ENST00000520133,NM_080805.3;COL13A1,splice_donor_variant,,ENST00000479733,;							HIGH	915/2154		CODA1_HUMAN			Transcript			.	ENSP00000381949		CCDS44419.1			1	
WDR78	0	LGGM	GRCh37	1	67303422	67303422	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	26	8	.	.	ENST00000371026.3:c.1552G>T	p.Ala518Ser	p.A518S	ENST00000371026	NM_024763.4	518	Gct/Tct	0	1	1	UPI00004561EF	0	NA	ENST00000371026		ENSG00000152763	26252		34	1.79		HGNC	p.A284S		WDR78		SNV							ENST00000464352	protein_coding	getma.org/?cm=var&var=hg19,1,67303422,C,A&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR12442:SF12,hmmpanther:PTHR12442		A/S		A	low	1608/3848		getma.org/?cm=msa&ty=f&p=WDR78_HUMAN&rb=470&re=669&var=A518S	deleterious(0)				YES	WDR78,missense_variant,p.Ala518Ser,ENST00000371026,NM_024763.4;WDR78,missense_variant,p.Ala264Ser,ENST00000431318,;WDR78,missense_variant,p.Ala284Ser,ENST00000464352,;WDR78,missense_variant,p.Ala518Ser,ENST00000371023,NM_207014.2;WDR78,missense_variant,p.Ala140Ser,ENST00000531552,;WDR78,3_prime_UTR_variant,,ENST00000491297,;							MODERATE	1552/2547	A518S	WDR78_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000360065		CCDS635.1			1	
STC1	0	LGGM	GRCh37	8	23702357	23702357	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	6	8	.	.	ENST00000290271.2:c.670G>A	p.Val224Ile	p.V224I	ENST00000290271	NM_003155.2	224	Gtc/Atc	0	1	1	UPI00001360B4	0	NA	ENST00000290271		ENSG00000159167	11373		14	-0.205		HGNC	p.V224I		STC1		SNV							ENST00000290271	protein_coding	getma.org/?cm=var&var=hg19,8,23702357,C,T&fts=all		hmmpanther:PTHR11245:SF1,hmmpanther:PTHR11245		V/I		T	neutral	954/3883		getma.org/?cm=msa&ty=f&p=STC1_HUMAN&rb=210&re=247&var=V224I	tolerated(0.92)	Q71UE5_HUMAN,B4DN22_HUMAN			YES	STC1,missense_variant,p.Val224Ile,ENST00000290271,NM_003155.2;STC1,missense_variant,p.Val155Ile,ENST00000524323,;							MODERATE	670/744	V224I	STC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000290271		CCDS6043.1			1	
TOP2B	0	LGGM	GRCh37	3	25677474	25677474	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	157	8	.	.	ENST00000435706.2:c.790G>T	p.Gly264Cys	p.G264C	ENST00000435706	NM_001068.3	264	Ggt/Tgt	0	1		UPI000013719A	0	getma.org/pdb.php?prot=TOP2B_HUMAN&from=246&to=286&var=G269C	ENST00000264331		ENSG00000077097	11990		165	3.44		HGNC	p.G269C		TOP2B		SNV							ENST00000264331	protein_coding	getma.org/?cm=var&var=hg19,3,25677474,C,A&fts=all		Gene3D:3.30.565.10,hmmpanther:PTHR10169,hmmpanther:PTHR10169:SF36,SMART_domains:SM00433,Superfamily_domains:SSF55874		G/C		A	medium	805/5189		getma.org/?cm=msa&ty=f&p=TOP2B_HUMAN&rb=246&re=286&var=G269C	deleterious(0)	Q8WTY5_HUMAN,Q6LC06_HUMAN,Q6LBI8_HUMAN,B4DLV2_HUMAN				TOP2B,missense_variant,p.Gly264Cys,ENST00000435706,NM_001068.3;TOP2B,missense_variant,p.Gly269Cys,ENST00000264331,;TOP2B,missense_variant,p.Gly264Cys,ENST00000424225,;							MODERATE	805/4881	G269C	TOP2B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264331					1	
PTPRB	0	LGGM	GRCh37	12	71016419	71016419	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	30	9	.	.	ENST00000334414.6:c.459G>C	p.Leu153=	p.L153=	ENST00000334414	NM_001109754.2	153	ctG/ctC	0	1	1	UPI00002294FA	0		ENST00000334414		ENSG00000127329	9665		39			HGNC	p.L153L		PTPRB		SNV							ENST00000334414	protein_coding					L		G		504/11332							YES	PTPRB,synonymous_variant,p.=,ENST00000334414,NM_001109754.2;PTPRB,synonymous_variant,p.=,ENST00000550358,;PTPRB,synonymous_variant,p.=,ENST00000551525,;PTPRB,intron_variant,,ENST00000548122,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;							LOW	459/6648		PTPRB_HUMAN			Transcript			.	ENSP00000334928		CCDS44943.1			1	
FRS2	0	LGGM	GRCh37	12	69964280	69964280	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	11	9	.	.	ENST00000299293.2:c.236G>T	p.Arg79Met	p.R79M	ENST00000299293	NM_001278353.1	79	aGg/aTg	0	1		UPI000003F143	0	getma.org/pdb.php?prot=FRS2_HUMAN&from=17&to=109&var=R79M	ENST00000397997		ENSG00000166225	16971		20	2.24		HGNC	p.R79M		FRS2		SNV							ENST00000397997	protein_coding	getma.org/?cm=var&var=hg19,12,69964280,G,T&fts=all		PROSITE_profiles:PS51064,hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF40,Gene3D:2.30.29.30,Pfam_domain:PF02174,SMART_domains:SM00310,Superfamily_domains:SSF50729		R/M		T	medium	538/6653		getma.org/?cm=msa&ty=f&p=FRS2_HUMAN&rb=17&re=109&var=R79M	deleterious(0.01)	L7RTG7_HUMAN,F8VZI4_HUMAN,F8VZ12_HUMAN,F8VYZ7_HUMAN,F8VX65_HUMAN,F8VW66_HUMAN,F8VS98_HUMAN				FRS2,missense_variant,p.Arg79Met,ENST00000299293,NM_001278353.1,NM_001278356.1,NM_006654.4,NM_001278351.1;FRS2,missense_variant,p.Arg79Met,ENST00000397997,NM_001278355.1,NM_001042555.2,NM_001278354.1;FRS2,missense_variant,p.Arg79Met,ENST00000550389,NM_001278357.1;FRS2,missense_variant,p.Arg79Met,ENST00000549921,;FRS2,missense_variant,p.Arg79Met,ENST00000550937,;FRS2,missense_variant,p.Arg79Met,ENST00000551325,;FRS2,downstream_gene_variant,,ENST00000547219,;FRS2,downstream_gene_variant,,ENST00000548154,;FRS2,downstream_gene_variant,,ENST00000549092,;FRS2,downstream_gene_variant,,ENST00000550169,;FRS2,downstream_gene_variant,,ENST00000550316,;FRS2,downstream_gene_variant,,ENST00000547414,;							MODERATE	236/1527	R79M	FRS2_HUMAN			Transcript		possibly_damaging(0.85)	.	ENSP00000381083		CCDS41809.1			1	
HSPA4	0	LGGM	GRCh37	5	132437490	132437490	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	15	9	.	.	ENST00000304858.2:c.2077G>A	p.Glu693Lys	p.E693K	ENST00000304858	NM_002154.3	693	Gaa/Aaa	0	1	1	UPI000013E9D5	0	NA	ENST00000304858		ENSG00000170606	5237		24	2.25		HGNC	p.E693K		HSPA4		SNV							ENST00000304858	protein_coding	getma.org/?cm=var&var=hg19,5,132437490,G,A&fts=all		hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF136,Gene3D:1.20.1270.10,Superfamily_domains:SSF100934		E/K		A	medium	2366/4825		getma.org/?cm=msa&ty=f&p=HSP74_HUMAN&rb=692&re=840&var=E693K	deleterious(0.02)	Q7KYN0_HUMAN,B4E354_HUMAN,B4DUS3_HUMAN,B4DT47_HUMAN,B4DN48_HUMAN,B0AZU6_HUMAN,B0AZT0_HUMAN,B0AZS1_HUMAN			YES	HSPA4,missense_variant,p.Glu693Lys,ENST00000304858,NM_002154.3;HSPA4,non_coding_transcript_exon_variant,,ENST00000514825,;							MODERATE	2077/2523	E693K	HSP74_HUMAN			Transcript		possibly_damaging(0.467)	.	ENSP00000302961		CCDS4166.1			1	
PCDHB1	0	LGGM	GRCh37	5	140432514	140432514	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	23	10	.	.	ENST00000306549.3:c.1459A>T	p.Ile487Leu	p.I487L	ENST00000306549	NM_013340.2	487	Ata/Tta	0	1	1	UPI000013EB56	0	getma.org/pdb.php?prot=PCDB1_HUMAN&from=457&to=553&var=I487L	ENST00000306549		ENSG00000171815	8680		33	0.83		HGNC	p.I487L		PCDHB1		SNV							ENST00000306549	protein_coding	getma.org/?cm=var&var=hg19,5,140432514,A,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF88,SMART_domains:SM00112,Superfamily_domains:SSF49313		I/L		T	low	1536/2534		getma.org/?cm=msa&ty=f&p=PCDB1_HUMAN&rb=457&re=553&var=I487L	tolerated(0.21)				YES	PCDHB1,missense_variant,p.Ile487Leu,ENST00000306549,NM_013340.2;							MODERATE	1459/2457	I487L	PCDB1_HUMAN			Transcript		benign(0.072)	.	ENSP00000307234		CCDS4243.1			1	
RUVBL2	0	LGGM	GRCh37	19	49506540	49506540	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	9	10	.	.	ENST00000595090.1:c.72C>T	p.Ala24=	p.A24=	ENST00000595090	NM_006666.1	24	gcC/gcT	0	1	1	UPI0000044738	0		ENST00000595090		ENSG00000183207	10475		19			HGNC	p.A24A		RUVBL2		SNV							ENST00000221413	protein_coding			Pfam_domain:PF06068,hmmpanther:PTHR11093		A		T		536/2009				M0QXI6_HUMAN,B3KQ59_HUMAN			YES	RUVBL2,synonymous_variant,p.=,ENST00000595090,NM_006666.1;RUVBL2,5_prime_UTR_variant,,ENST00000413176,;RUVBL2,5_prime_UTR_variant,,ENST00000601968,;RUVBL2,5_prime_UTR_variant,,ENST00000596837,;RUVBL2,downstream_gene_variant,,ENST00000598768,;RUVBL2,synonymous_variant,p.=,ENST00000596247,;RUVBL2,synonymous_variant,p.=,ENST00000221413,;RUVBL2,3_prime_UTR_variant,,ENST00000593570,;RUVBL2,3_prime_UTR_variant,,ENST00000595811,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594338,;RUVBL2,non_coding_transcript_exon_variant,,ENST00000594017,;							LOW	72/1392		RUVB2_HUMAN			Transcript			.	ENSP00000473172		CCDS42588.1			1	
DDN	0	LGGM	GRCh37	12	49392334	49392334	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	11	10	.	.	ENST00000421952.2:c.325G>A	p.Glu109Lys	p.E109K	ENST00000421952	NM_015086.1	109	Gag/Aag	0	1	1	UPI000019821C	0	NA	ENST00000421952		ENSG00000181418	24458		21	0.805		HGNC	p.E109K	rs760587728	DDN	6.51E-05	SNV							ENST00000421952	protein_coding	getma.org/?cm=var&var=hg19,12,49392334,C,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15498,hmmpanther:PTHR16757		E/K		T	low	347/3749		getma.org/?cm=msa&ty=f&p=DEND_HUMAN&rb=1&re=448&var=E109K	deleterious_low_confidence(0)				YES	DDN,missense_variant,p.Glu109Lys,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,,ENST00000552212,NM_001206710.1;PRKAG1,downstream_gene_variant,,ENST00000551770,;PRKAG1,downstream_gene_variant,,ENST00000548362,;PRKAG1,downstream_gene_variant,,ENST00000551696,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547866,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552933,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000552284,;RP11-386G11.5,non_coding_transcript_exon_variant,,ENST00000547395,;RP11-386G11.3,downstream_gene_variant,,ENST00000549516,;PRKAG1,downstream_gene_variant,,ENST00000546531,;							MODERATE	325/2136	E109K	DEND_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000390590	8.39E-06	CCDS31791.2			1	
VNN1	0	LGGM	GRCh37	6	133035133	133035133	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	22	11	.	.	ENST00000367928.4:c.42C>G	p.Phe14Leu	p.F14L	ENST00000367928	NM_004666.2	14	ttC/ttG	0	1	1	UPI000013C91E	0	NA	ENST00000367928		ENSG00000112299	12705		33	-0.2		HGNC	p.F14L		VNN1		SNV							ENST00000367928	protein_coding	getma.org/?cm=var&var=hg19,6,133035133,G,C&fts=all		PIRSF_domain:PIRSF011861,hmmpanther:PTHR10609,hmmpanther:PTHR10609:SF4,Cleavage_site_(Signalp):SignalP-noTM		F/L		C	neutral	56/3106		getma.org/?cm=msa&ty=f&p=VNN1_HUMAN&rb=1&re=56&var=F14L	tolerated(1)				YES	VNN1,missense_variant,p.Phe14Leu,ENST00000367928,NM_004666.2;							MODERATE	42/1542	F14L	VNN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000356905		CCDS5159.1			1	
PI4KA	0	LGGM	GRCh37	22	21159401	21159401	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	20	12	.	.	ENST00000255882.6:c.1221C>G	p.Phe407Leu	p.F407L	ENST00000255882	NM_058004.3	407	ttC/ttG	0	1	1	UPI0000E06BD6	0	NA	ENST00000255882		ENSG00000241973	8983		32	1.79		HGNC	p.F407L		PI4KA		SNV							ENST00000255882	protein_coding	getma.org/?cm=var&var=hg19,22,21159401,G,C&fts=all		Superfamily_domains:SSF48371		F/L		C	low	1308/6752		getma.org/?cm=msa&ty=f&p=PI4KA_HUMAN&rb=201&re=400&var=F349L	deleterious(0.05)	Q4LE69_HUMAN,J3KN10_HUMAN,C9JLI1_HUMAN			YES	PI4KA,missense_variant,p.Phe407Leu,ENST00000255882,NM_058004.3;PI4KA,missense_variant,p.Phe349Leu,ENST00000572273,;PI4KA,non_coding_transcript_exon_variant,,ENST00000485963,;PI4KA,upstream_gene_variant,,ENST00000485950,;							MODERATE	1221/6309	F349L				Transcript		benign(0.241)	.	ENSP00000255882		CCDS33603.2			1	
ELTD1	0	LGGM	GRCh37	1	79357249	79357249	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	38	12	.	.	ENST00000370742.3:c.1970G>A	p.Gly657Glu	p.G657E	ENST00000370742	NM_022159.3	657	gGg/gAg	0	1	1	UPI00004561FF	0	NA	ENST00000370742		ENSG00000162618	20822		50	4.115		HGNC	p.G657E		ELTD1		SNV							ENST00000370742	protein_coding	getma.org/?cm=var&var=hg19,1,79357249,C,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF59,PROSITE_patterns:PS00650,Pfam_domain:PF00002,Prints_domain:PR00249		G/E		T	high	2034/3527		getma.org/?cm=msa&ty=f&p=ELTD1_HUMAN&rb=424&re=660&var=G657E	deleterious(0)				YES	ELTD1,missense_variant,p.Gly657Glu,ENST00000370742,NM_022159.3;ELTD1,missense_variant,p.Gly115Glu,ENST00000401034,;							MODERATE	1970/2073	G657E	ELTD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359778		CCDS41352.1			1	
LRRC3	0	LGGM	GRCh37	21	45877049	45877049	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	16	13	.	.	ENST00000291592.4:c.522C>T	p.Thr174=	p.T174=	ENST00000291592	NM_030891.3	174	acC/acT	0	1	1	UPI000012E946	0		ENST00000291592		ENSG00000160233	14965		29			HGNC	p.T174T		LRRC3		SNV							ENST00000291592	protein_coding			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF135,Superfamily_domains:SSF52058		T		T		839/2529							YES	LRRC3,synonymous_variant,p.=,ENST00000291592,NM_030891.3;LRRC3DN,upstream_gene_variant,,ENST00000596691,;LRRC3-AS1,upstream_gene_variant,,ENST00000426578,;							LOW	522/774		LRRC3_HUMAN			Transcript			.	ENSP00000291592		CCDS13711.1			1	
PLAT	0	LGGM	GRCh37	8	42045509	42045509	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	23	13	.	.	ENST00000220809.4:c.279C>T	p.Asn93=	p.N93=	ENST00000220809	NM_000930.3	93	aaC/aaT	0	1	1	UPI0000000DD4	0		ENST00000220809		ENSG00000104368	9051		36			HGNC	p.N93N	rs761451359	PLAT		SNV				0.000195			ENST00000519510	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF00008,PIRSF_domain:PIRSF001145,PROSITE_profiles:PS50026,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF0		N		A		536/2706				Q6LBF5_HUMAN,E5RHG4_HUMAN,E5RGA1_HUMAN			YES	PLAT,synonymous_variant,p.=,ENST00000220809,NM_000930.3;PLAT,synonymous_variant,p.=,ENST00000270189,;PLAT,synonymous_variant,p.=,ENST00000429089,;PLAT,synonymous_variant,p.=,ENST00000352041,NM_033011.2;PLAT,synonymous_variant,p.=,ENST00000519510,;PLAT,synonymous_variant,p.=,ENST00000524009,;PLAT,synonymous_variant,p.=,ENST00000520523,;PLAT,synonymous_variant,p.=,ENST00000521694,;PLAT,intron_variant,,ENST00000429710,;PLAT,non_coding_transcript_exon_variant,,ENST00000521647,;PLAT,upstream_gene_variant,,ENST00000521042,;PLAT,upstream_gene_variant,,ENST00000524261,;							LOW	279/1689		TPA_HUMAN			Transcript			.	ENSP00000220809	1.65E-05	CCDS6126.1			1	
ZNF746	0	LGGM	GRCh37	7	149191586	149191586	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	45	13	.	.	ENST00000458143.2:c.33G>T	p.Pro11=	p.P11=	ENST00000458143	NM_001163474.1	11	ccG/ccT	0	1		UPI0000352C19	0		ENST00000340622		ENSG00000181220	21948		58			HGNC	p.P11P		ZNF746		SNV							ENST00000458143	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF13		P		A		314/3806				Q96N48_HUMAN				ZNF746,synonymous_variant,p.=,ENST00000461958,;ZNF746,synonymous_variant,p.=,ENST00000340622,;ZNF746,synonymous_variant,p.=,ENST00000458143,NM_001163474.1,NM_152557.4;							LOW	33/1935		ZN746_HUMAN			Transcript			.	ENSP00000345140		CCDS5897.1			1	
KDM3A	0	LGGM	GRCh37	2	86711135	86711135	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	28	13	.	.	ENST00000409556.1:c.2948A>G	p.His983Arg	p.H983R	ENST00000409556		983	cAt/cGt	0	1		UPI0000161FAE	0	NA	ENST00000312912		ENSG00000115548	20815		41	-0.44		HGNC	p.H931R		KDM3A		SNV							ENST00000542128	protein_coding	getma.org/?cm=var&var=hg19,2,86711135,A,G&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF7,Superfamily_domains:SSF51197		H/R		G	neutral	3275/4884		getma.org/?cm=msa&ty=f&p=KDM3A_HUMAN&rb=907&re=1106&var=H983R	tolerated(0.14)	C9JC73_HUMAN,C9J7Q7_HUMAN				KDM3A,missense_variant,p.His983Arg,ENST00000409556,;KDM3A,missense_variant,p.His983Arg,ENST00000312912,NM_018433.5;KDM3A,missense_variant,p.His983Arg,ENST00000409064,NM_001146688.1;KDM3A,missense_variant,p.His931Arg,ENST00000542128,;KDM3A,upstream_gene_variant,,ENST00000462197,;KDM3A,3_prime_UTR_variant,,ENST00000441719,;KDM3A,upstream_gene_variant,,ENST00000491383,;KDM3A,upstream_gene_variant,,ENST00000470160,;							MODERATE	2948/3966	H983R	KDM3A_HUMAN			Transcript		benign(0.003)	.	ENSP00000323659		CCDS1990.1			1	
TNFSF13B	0	LGGM	GRCh37	13	108922551	108922551	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	20	13	.	.	ENST00000375887.4:c.308A>T	p.Glu103Val	p.E103V	ENST00000375887	NM_006573.4	103	gAg/gTg	0	1	1	UPI0000001C02	0	NA	ENST00000375887		ENSG00000102524	11929		33	0		HGNC	p.E103V		TNFSF13B		SNV							ENST00000542136	protein_coding	getma.org/?cm=var&var=hg19,13,108922551,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15151,hmmpanther:PTHR15151:SF2		E/V		T	neutral	486/2582		getma.org/?cm=msa&ty=f&p=TN13B_HUMAN&rb=88&re=167&var=E103V	tolerated(0.24)				YES	TNFSF13B,missense_variant,p.Glu103Val,ENST00000375887,NM_006573.4;TNFSF13B,missense_variant,p.Glu103Val,ENST00000430559,NM_001145645.2;TNFSF13B,missense_variant,p.Glu103Val,ENST00000542136,;TNFSF13B,non_coding_transcript_exon_variant,,ENST00000486502,;TNFSF13B,upstream_gene_variant,,ENST00000479435,;							MODERATE	308/858	E103V	TN13B_HUMAN			Transcript		benign(0.01)	.	ENSP00000365048		CCDS9509.1			1	
OBSCN	0	LGGM	GRCh37	1	228437786	228437786	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	75	13	.	.	ENST00000570156.2:c.4430A>G	p.Lys1477Arg	p.K1477R	ENST00000570156	NM_001271223.2	1477	aAg/aGg	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=1352&to=1430&var=K1385R	ENST00000422127		ENSG00000154358	15719		88	2.255		HGNC	p.K1385R		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228437786,A,G&fts=all		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		K/R		G	medium	4198/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=1352&re=1430&var=K1385R						OBSCN,missense_variant,p.Lys1477Arg,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Lys1385Arg,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Lys1385Arg,ENST00000284548,NM_052843.3;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;							MODERATE	4154/23907	K1385R	OBSCN_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000409493		CCDS58065.1			1	
USP19	0	LGGM	GRCh37	3	49149430	49149430	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	12	14	.	.	ENST00000434032.2:c.2811G>A	p.Glu937=	p.E937=	ENST00000434032	NM_001199160.1	937	gaG/gaA	0	1		UPI00004BA927	0		ENST00000398888		ENSG00000172046	12617		26			HGNC	p.E836E		USP19		SNV							ENST00000398888	protein_coding			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF404		E		T		2827/4559								USP19,synonymous_variant,p.=,ENST00000453664,NM_001199161.1,NM_001199162.1;USP19,synonymous_variant,p.=,ENST00000417901,;USP19,synonymous_variant,p.=,ENST00000434032,NM_001199160.1;USP19,synonymous_variant,p.=,ENST00000398892,;USP19,synonymous_variant,p.=,ENST00000398888,NM_006677.2;USP19,synonymous_variant,p.=,ENST00000398898,;USP19,synonymous_variant,p.=,ENST00000398896,;USP19,downstream_gene_variant,,ENST00000306026,;USP19,downstream_gene_variant,,ENST00000479073,;USP19,downstream_gene_variant,,ENST00000464931,;USP19,upstream_gene_variant,,ENST00000483667,;							LOW	2508/3957		UBP19_HUMAN			Transcript			.	ENSP00000381863		CCDS43090.1			1	
ABCA12	0	LGGM	GRCh37	2	215852474	215852474	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	8	14	.	.	ENST00000272895.7:c.3873T>C	p.Pro1291=	p.P1291=	ENST00000272895	NM_173076.2	1291	ccT/ccC	0	1	1	UPI000019AB7A	0		ENST00000272895		ENSG00000144452	14637		22			HGNC	p.P1291P		ABCA12		SNV			1				ENST00000272895	protein_coding			hmmpanther:PTHR19229:SF29,hmmpanther:PTHR19229		P		G		4093/9100				A0SYP7_HUMAN			YES	ABCA12,synonymous_variant,p.=,ENST00000272895,NM_173076.2;ABCA12,synonymous_variant,p.=,ENST00000389661,NM_015657.3;							LOW	3873/7788		ABCAC_HUMAN			Transcript			.	ENSP00000272895		CCDS33372.1			1	
ZNF93	0	LGGM	GRCh37	19	20044292	20044292	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	34	14	.	.	ENST00000343769.5:c.528A>G	p.Ile176Met	p.I176M	ENST00000343769	NM_031218.3	176	atA/atG	0	1	1	UPI00002263B9	0	getma.org/pdb.php?prot=ZNF93_HUMAN&from=159&to=184&var=I176M	ENST00000343769		ENSG00000184635	13169		48	0.065		HGNC	p.I176M		ZNF93		SNV							ENST00000343769	protein_coding	getma.org/?cm=var&var=hg19,19,20044292,A,G&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF270,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		I/M		G	neutral	556/2648		getma.org/?cm=msa&ty=f&p=ZNF93_HUMAN&rb=139&re=204&var=I176M	deleterious(0.04)	K7EPV7_HUMAN,B4DJ46_HUMAN			YES	ZNF93,missense_variant,p.Ile176Met,ENST00000343769,NM_031218.3;ZNF93,missense_variant,p.Ile112Met,ENST00000588146,;ZNF93,downstream_gene_variant,,ENST00000592160,;AC007204.1,downstream_gene_variant,,ENST00000595282,;AC007204.2,intron_variant,,ENST00000592245,;ZNF93,downstream_gene_variant,,ENST00000586021,;							MODERATE	528/1863	I176M	ZNF93_HUMAN			Transcript		benign(0.118)	.	ENSP00000342002		CCDS32973.1			1	
GPR116	0	LGGM	GRCh37	6	46836795	46836795	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	13	14	.	.	ENST00000283296.7:c.1446T>C	p.Val482=	p.V482=	ENST00000283296	NM_001098518.1	482	gtT/gtC	0	1		UPI000007075A	0		ENST00000265417		ENSG00000069122	19030		27			HGNC	p.V482V		GPR116		SNV							ENST00000362015	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,SMART_domains:SM00409,Superfamily_domains:SSF48726		V		G		1680/5668								GPR116,synonymous_variant,p.=,ENST00000283296,NM_001098518.1;GPR116,synonymous_variant,p.=,ENST00000362015,;GPR116,synonymous_variant,p.=,ENST00000265417,NM_015234.4;GPR116,synonymous_variant,p.=,ENST00000456426,;GPR116,5_prime_UTR_variant,,ENST00000545669,;							LOW	1446/4041		GP116_HUMAN			Transcript			.	ENSP00000265417		CCDS4919.1			1	
PRKD1	0	LGGM	GRCh37	14	30099931	30099931	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	25	15	.	.	ENST00000331968.5:c.1672+17T>A		*558*	ENST00000331968	NM_002742.2			0	1	1	UPI0000456761	0		ENST00000331968		ENSG00000184304	9407		40			HGNC	p.F144L		PRKD1		SNV			1				ENST00000546371	protein_coding							T		-/3726				Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Phe144Leu,ENST00000546371,;PRKD1,intron_variant,,ENST00000331968,NM_002742.2;PRKD1,intron_variant,,ENST00000415220,;							MODIFIER	-/2739		KPCD1_HUMAN			Transcript			.	ENSP00000333568		CCDS9637.1			1	
RHOBTB1	0	LGGM	GRCh37	10	62652582	62652582	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	54	15	.	.	ENST00000337910.5:c.468G>A	p.Arg156=	p.R156=	ENST00000337910	NM_001242359.1	156	agG/agA	0	1	1	UPI000000D9B7	0		ENST00000337910		ENSG00000072422	18738		69			HGNC	p.R156R		RHOBTB1		SNV							ENST00000337910	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00071,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF120,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540		R		T		806/4473				Q567T3_HUMAN			YES	RHOBTB1,synonymous_variant,p.=,ENST00000337910,NM_001242359.1,NM_014836.4;RHOBTB1,synonymous_variant,p.=,ENST00000357917,;RHOBTB1,upstream_gene_variant,,ENST00000483488,;							LOW	468/2091		RHBT1_HUMAN			Transcript			.	ENSP00000338671		CCDS7261.1			1	
ACSF2	0	LGGM	GRCh37	17	48541621	48541621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	38	15	.	.	ENST00000300441.4:c.1181C>A	p.Ala394Asp	p.A394D	ENST00000300441	NM_025149.4	394	gCc/gAc	0	1	1	UPI0000049DEF	0	getma.org/pdb.php?prot=ACSF2_HUMAN&from=101&to=540&var=A394D	ENST00000300441		ENSG00000167107	26101		53	1.045		HGNC	p.A234D		ACSF2		SNV							ENST00000541920	protein_coding	getma.org/?cm=var&var=hg19,17,48541621,C,A&fts=all		hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		A/D		A	low	1285/2235		getma.org/?cm=msa&ty=f&p=ACSF2_HUMAN&rb=101&re=540&var=A394D	tolerated(0.06)	B4DUF5_HUMAN			YES	ACSF2,missense_variant,p.Ala419Asp,ENST00000427954,;ACSF2,missense_variant,p.Ala394Asp,ENST00000300441,NM_025149.4;ACSF2,missense_variant,p.Ala381Asp,ENST00000502667,;ACSF2,missense_variant,p.Ala351Asp,ENST00000504392,;ACSF2,missense_variant,p.Ala234Asp,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,,ENST00000506085,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,upstream_gene_variant,,ENST00000513544,;ACSF2,upstream_gene_variant,,ENST00000508734,;ACSF2,missense_variant,p.Ala39Asp,ENST00000508245,;ACSF2,missense_variant,p.Ala58Asp,ENST00000510262,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,non_coding_transcript_exon_variant,,ENST00000513101,;ACSF2,upstream_gene_variant,,ENST00000511288,;ACSF2,downstream_gene_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,downstream_gene_variant,,ENST00000570356,;							MODERATE	1181/1848	A394D	ACSF2_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000300441		CCDS11567.1			1	
MSTN	0	LGGM	GRCh37	2	190925132	190925132	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	31	15	.	.	ENST00000260950.4:c.403C>T	p.Pro135Ser	p.P135S	ENST00000260950	NM_005259.2	135	Ccc/Tcc	0	1	1	UPI0000037254	0	getma.org/pdb.php?prot=GDF8_HUMAN&from=13&to=256&var=P135S	ENST00000260950		ENSG00000138379	4223		46	1.4		HGNC	p.P135S		MSTN		SNV			1				ENST00000260950	protein_coding	getma.org/?cm=var&var=hg19,2,190925132,G,A&fts=all		Pfam_domain:PF00688,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF13		P/S		A	low	536/2822		getma.org/?cm=msa&ty=f&p=GDF8_HUMAN&rb=13&re=256&var=P135S	tolerated(0.25)	Q53S46_HUMAN			YES	MSTN,missense_variant,p.Pro135Ser,ENST00000260950,NM_005259.2;C2orf88,intron_variant,,ENST00000478197,;C2orf88,intron_variant,,ENST00000495546,;							MODERATE	403/1128	P135S	GDF8_HUMAN			Transcript		benign(0.06)	.	ENSP00000260950		CCDS2303.1			1	
ATG13	0	LGGM	GRCh37	11	46686964	46686964	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	46	15	.	.	ENST00000528494.1:c.1031C>T	p.Pro344Leu	p.P344L	ENST00000528494	NM_001205119.1	344	cCc/cTc	0	1		UPI0000139B84	0	NA	ENST00000359513		ENSG00000175224	29091		61	1.59		HGNC	p.P311L		ATG13		SNV							ENST00000359513	protein_coding	getma.org/?cm=var&var=hg19,11,46686964,C,T&fts=all		hmmpanther:PTHR13430,hmmpanther:PTHR13430:SF2		P/L		T	low	1240/4348		getma.org/?cm=msa&ty=f&p=ATG13_HUMAN&rb=231&re=515&var=P311L	deleterious_low_confidence(0.05)	J9JIF6_HUMAN,J3QRL1_HUMAN,J3QR83_HUMAN,J3QR16_HUMAN,J3KST9_HUMAN,J3KRU6_HUMAN,E9PPR2_HUMAN				ATG13,missense_variant,p.Pro311Leu,ENST00000434074,NM_001205120.1;ATG13,missense_variant,p.Pro311Leu,ENST00000312040,NM_001142673.2;ATG13,missense_variant,p.Pro274Leu,ENST00000451945,;ATG13,missense_variant,p.Pro311Leu,ENST00000359513,;ATG13,missense_variant,p.Pro311Leu,ENST00000526508,;ATG13,missense_variant,p.Pro274Leu,ENST00000524625,NM_014741.4;ATG13,missense_variant,p.Pro274Leu,ENST00000529655,NM_001205121.1;ATG13,missense_variant,p.Pro344Leu,ENST00000528494,NM_001205119.1;ATG13,missense_variant,p.Pro195Leu,ENST00000530500,NM_001205122.1;ATG13,missense_variant,p.Pro43Leu,ENST00000525009,;ATG13,intron_variant,,ENST00000531933,;ATG13,non_coding_transcript_exon_variant,,ENST00000527907,;ATG13,non_coding_transcript_exon_variant,,ENST00000533316,;ATG13,upstream_gene_variant,,ENST00000529395,;ATG13,downstream_gene_variant,,ENST00000528984,;ATG13,upstream_gene_variant,,ENST00000532067,;							MODERATE	932/1554	P311L	ATG13_HUMAN			Transcript		benign(0.002)	.	ENSP00000352500		CCDS44582.1			1	
ARSF	0	LGGM	GRCh37	X	3030531	3030531	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	3	15	.	.	ENST00000381127.1:c.1707C>G	p.Phe569Leu	p.F569L	ENST00000381127	NM_001201539.1	569	ttC/ttG	0	1		UPI00001A9629	0	NA	ENST00000359361		ENSG00000062096	721		18	2.175		HGNC	p.F569L		ARSF		SNV							ENST00000537104	protein_coding	getma.org/?cm=var&var=hg19,X,3030531,C,G&fts=all		Superfamily_domains:SSF53649,Pfam_domain:PF14707,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF73		F/L		G	medium	1775/1991		getma.org/?cm=msa&ty=f&p=ARSF_HUMAN&rb=519&re=590&var=F569L	tolerated(0.08)					ARSF,missense_variant,p.Phe569Leu,ENST00000381127,NM_001201539.1,NM_001201538.1;ARSF,missense_variant,p.Phe569Leu,ENST00000359361,NM_004042.4;ARSF,missense_variant,p.Phe569Leu,ENST00000537104,;RP13-824C8.2,downstream_gene_variant,,ENST00000443851,;							MODERATE	1707/1773	F569L	ARSF_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000352319		CCDS14123.1			1	
ATP6AP1L	0	LGGM	GRCh37	5	81606012	81606012	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	31	16	.	.	ENST00000380167.4:c.117A>C	p.Arg39Ser	p.R39S	ENST00000380167		39	agA/agC	0	1	1	UPI000015F4B3	0	NA	ENST00000380167		ENSG00000205464	28091		47	1.04		HGNC	p.R39S		ATP6AP1L		SNV							ENST00000380167	protein_coding	getma.org/?cm=var&var=hg19,5,81606012,A,C&fts=all		hmmpanther:PTHR12471,hmmpanther:PTHR12471:SF3		R/S		C	low	1442/2503		getma.org/?cm=msa&ty=f&p=VAS1L_HUMAN&rb=28&re=221&var=R39S	tolerated(0.17)				YES	ATP6AP1L,missense_variant,p.Arg39Ser,ENST00000380167,;ATP6AP1L,missense_variant,p.Arg39Ser,ENST00000439350,NM_001017971.1;ATP6AP1L,non_coding_transcript_exon_variant,,ENST00000508366,;ATP6AP1L,non_coding_transcript_exon_variant,,ENST00000514672,;							MODERATE	117/675	R39S	VAS1L_HUMAN			Transcript		benign(0.017)	.	ENSP00000369513		CCDS34196.1			1	
SUPT7L	0	LGGM	GRCh37	2	27880323	27880323	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	12	16	.	.	ENST00000337768.5:c.633T>C	p.Pro211=	p.P211=	ENST00000337768	NM_014860.1	211	ccT/ccC	0	1	1	UPI000013607D	0		ENST00000337768		ENSG00000119760	30632		28			HGNC	p.P211P		SUPT7L		SNV							ENST00000337768	protein_coding			Pfam_domain:PF07524,SMART_domains:SM00576		P		G		1203/4488							YES	SUPT7L,synonymous_variant,p.=,ENST00000337768,NM_014860.1,NM_001282729.1;SUPT7L,synonymous_variant,p.=,ENST00000406540,;SUPT7L,synonymous_variant,p.=,ENST00000464789,;SUPT7L,synonymous_variant,p.=,ENST00000405491,;SUPT7L,synonymous_variant,p.=,ENST00000404798,NM_001282732.1;							LOW	633/1245		ST65G_HUMAN			Transcript			.	ENSP00000336750		CCDS42667.1			1	
SLC35G6	0	LGGM	GRCh37	17	7385453	7385453	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	5	16	.	.	ENST00000412468.2:c.150T>A	p.Pro50=	p.P50=	ENST00000412468	NM_001102614.1	50	ccT/ccA	0	1	1	UPI000021D25A	0		ENST00000412468		ENSG00000259224	31351		21			HGNC	p.P50P		SLC35G6		SNV							ENST00000412468	protein_coding			hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		P		A		265/1195							YES	SLC35G6,synonymous_variant,p.=,ENST00000412468,NM_001102614.1;ZBTB4,intron_variant,,ENST00000311403,NM_020899.3;POLR2A,upstream_gene_variant,,ENST00000322644,NM_000937.4;ZBTB4,upstream_gene_variant,,ENST00000380599,NM_001128833.1;POLR2A,upstream_gene_variant,,ENST00000572844,;							LOW	150/1017		S35G6_HUMAN			Transcript			.	ENSP00000396523		CCDS45603.1			1	
MACROD2	0	LGGM	GRCh37	20	14066288	14066288	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	5	16	.	.	ENST00000217246.4:c.185C>A	p.Ser62Tyr	p.S62Y	ENST00000217246	NM_080676.5	62	tCc/tAc	0	1	1	UPI00005B2E12	0	NA	ENST00000217246		ENSG00000172264	16126		21	0.895		HGNC	p.S62Y		MACROD2		SNV							ENST00000217246	protein_coding	getma.org/?cm=var&var=hg19,20,14066288,C,A&fts=all		PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF54,Gene3D:3.40.220.10,Superfamily_domains:SSF52949		S/Y		A	low	580/4994		getma.org/?cm=msa&ty=f&p=MACD2_HUMAN&rb=59&re=240&var=S62Y	tolerated(0.33)				YES	MACROD2,missense_variant,p.Ser62Tyr,ENST00000217246,NM_080676.5;MACROD2,missense_variant,p.Ser62Tyr,ENST00000310348,;MACROD2,non_coding_transcript_exon_variant,,ENST00000477147,;MACROD2,non_coding_transcript_exon_variant,,ENST00000494602,;MACROD2,non_coding_transcript_exon_variant,,ENST00000490428,;							MODERATE	185/1278	S62Y	MACD2_HUMAN			Transcript		possibly_damaging(0.66)	.	ENSP00000217246		CCDS13120.2			1	
ACSF2	0	LGGM	GRCh37	17	48541620	48541620	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	38	16	.	.	ENST00000300441.4:c.1180G>A	p.Ala394Thr	p.A394T	ENST00000300441	NM_025149.4	394	Gcc/Acc	0	1	1	UPI0000049DEF	0	getma.org/pdb.php?prot=ACSF2_HUMAN&from=101&to=540&var=A394T	ENST00000300441		ENSG00000167107	26101		54	1.105		HGNC	p.A234T		ACSF2		SNV							ENST00000541920	protein_coding	getma.org/?cm=var&var=hg19,17,48541620,G,A&fts=all		hmmpanther:PTHR24095,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		A/T		A	low	1284/2235		getma.org/?cm=msa&ty=f&p=ACSF2_HUMAN&rb=101&re=540&var=A394T	tolerated(0.07)	B4DUF5_HUMAN			YES	ACSF2,missense_variant,p.Ala419Thr,ENST00000427954,;ACSF2,missense_variant,p.Ala394Thr,ENST00000300441,NM_025149.4;ACSF2,missense_variant,p.Ala381Thr,ENST00000502667,;ACSF2,missense_variant,p.Ala351Thr,ENST00000504392,;ACSF2,missense_variant,p.Ala234Thr,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,,ENST00000506085,;ACSF2,upstream_gene_variant,,ENST00000509806,;ACSF2,upstream_gene_variant,,ENST00000513544,;ACSF2,upstream_gene_variant,,ENST00000508734,;ACSF2,missense_variant,p.Ala39Thr,ENST00000508245,;ACSF2,missense_variant,p.Ala58Thr,ENST00000510262,;ACSF2,3_prime_UTR_variant,,ENST00000510410,;ACSF2,non_coding_transcript_exon_variant,,ENST00000513101,;ACSF2,upstream_gene_variant,,ENST00000511288,;ACSF2,downstream_gene_variant,,ENST00000506052,;ACSF2,upstream_gene_variant,,ENST00000507769,;ACSF2,downstream_gene_variant,,ENST00000503408,;ACSF2,downstream_gene_variant,,ENST00000504945,;ACSF2,downstream_gene_variant,,ENST00000570356,;							MODERATE	1180/1848	A394T	ACSF2_HUMAN			Transcript		benign(0.02)	.	ENSP00000300441		CCDS11567.1			1	
CREBBP	0	LGGM	GRCh37	16	3832858	3832858	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	13	17	.	.	ENST00000262367.5:c.1400C>T	p.Ala467Val	p.A467V	ENST00000262367	NM_004380.2	467	gCc/gTc	0	1	1	UPI0000000620	0	NA	ENST00000262367		ENSG00000005339	2348		30	1.975		HGNC	p.A429V	COSM1377861	CREBBP		SNV			1			1	ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3832858,G,A&fts=all		hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		A/V		A	medium	2210/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=433&re=586&var=A467V		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			YES	CREBBP,missense_variant,p.Ala467Val,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Ala429Val,ENST00000382070,NM_001079846.1;CREBBP,upstream_gene_variant,,ENST00000572134,;CREBBP,upstream_gene_variant,,ENST00000571826,;					1		MODERATE	1400/7329	A467V	CBP_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000262367		CCDS10509.1			1	
KCNH8	0	LGGM	GRCh37	3	19575545	19575545	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	19	17	.	.	ENST00000328405.2:c.3278T>C	p.Val1093Ala	p.V1093A	ENST00000328405	NM_144633.2	1093	gTc/gCc	0	1	1	UPI0000167D12	0	NA	ENST00000328405		ENSG00000183960	18864		36	1.59		HGNC	p.V1093A		KCNH8		SNV							ENST00000328405	protein_coding	getma.org/?cm=var&var=hg19,3,19575545,T,C&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF380		V/A		C	low	3544/5137		getma.org/?cm=msa&ty=f&p=KCNH8_HUMAN&rb=853&re=1105&var=V1093A	tolerated_low_confidence(0.11)				YES	KCNH8,missense_variant,p.Val1093Ala,ENST00000328405,NM_144633.2;KCNH8,3_prime_UTR_variant,,ENST00000452398,;							MODERATE	3278/3324	V1093A	KCNH8_HUMAN			Transcript		benign(0.001)	.	ENSP00000328813		CCDS2632.1			1	
DHRS2	0	LGGM	GRCh37	14	24113370	24113370	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	17	17	.	.	ENST00000344777.7:c.539T>A	p.Val180Glu	p.V180E	ENST00000344777	NM_182908.4	180	gTg/gAg	0	1		UPI000004C787	0	getma.org/pdb.php?prot=DHRS2_HUMAN&from=20&to=254&var=V158E	ENST00000250383		ENSG00000100867	18349		34	0.24		HGNC	p.V180E	rs141543727	DHRS2		SNV	C:0			0.000192			ENST00000250383	protein_coding	getma.org/?cm=var&var=hg19,14,24113370,T,A&fts=all	C:0	Gene3D:3.40.50.720,Pfam_domain:PF13561,PROSITE_patterns:PS00061,hmmpanther:PTHR24322,hmmpanther:PTHR24322:SF322,Superfamily_domains:SSF51735		V/E	C:0.0009	A	neutral	1015/1705		getma.org/?cm=msa&ty=f&p=DHRS2_HUMAN&rb=20&re=254&var=V158E	tolerated(0.64)	C9JZP6_HUMAN	C:0	C:0		DHRS2,missense_variant,p.Val180Glu,ENST00000250383,NM_005794.3;DHRS2,missense_variant,p.Val180Glu,ENST00000344777,NM_182908.4;DHRS2,missense_variant,p.Val96Glu,ENST00000557535,;DHRS2,missense_variant,p.Val80Glu,ENST00000553600,;DHRS2,missense_variant,p.Val180Glu,ENST00000432832,;DHRS2,downstream_gene_variant,,ENST00000553896,;DHRS2,splice_region_variant,,ENST00000556729,;DHRS2,splice_region_variant,,ENST00000556701,;DHRS2,non_coding_transcript_exon_variant,,ENST00000556550,;		C:0.0004					MODERATE	539/843	V158E	DHRS2_HUMAN		C:0.002	Transcript		benign(0.143)	.	ENSP00000250383	1.65E-05	CCDS9604.1		C:0	1	
ZNF644	0	LGGM	GRCh37	1	91403643	91403643	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	28	18	.	.	ENST00000370440.1:c.3087A>G	p.Ile1029Met	p.I1029M	ENST00000370440		1029	atA/atG	0	1		UPI000004A010	0	NA	ENST00000337393		ENSG00000122482	29222		46	1.1		HGNC	p.I1029M	rs760558829	ZNF644	6.14E-05	SNV			1				ENST00000370440	protein_coding	getma.org/?cm=var&var=hg19,1,91403643,T,C&fts=all		hmmpanther:PTHR24402:SF180,hmmpanther:PTHR24402		I/M		C	low	3328/5683		getma.org/?cm=msa&ty=f&p=ZN644_HUMAN&rb=988&re=1187&var=I1029M	deleterious(0.02)	Q9NVH8_HUMAN,Q9H8J8_HUMAN,Q8NEI6_HUMAN				ZNF644,missense_variant,p.Ile1029Met,ENST00000370440,;ZNF644,missense_variant,p.Ile1029Met,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,;							MODERATE	3087/3984	I1029M	ZN644_HUMAN			Transcript		possibly_damaging(0.474)	.	ENSP00000337008	8.25E-06	CCDS731.1			1	
APOB	0	LGGM	GRCh37	2	21228201	21228201	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	53	19	.	.	ENST00000233242.1:c.11539A>G	p.Ile3847Val	p.I3847V	ENST00000233242	NM_000384.2	3847	Atc/Gtc	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		72	2.19		HGNC	p.I3847V		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21228201,T,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		I/V		C	medium	11667/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3440&re=4087&var=I3847V		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Ile3847Val,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;							MODERATE	11539/13692	I3847V	APOB_HUMAN			Transcript		possibly_damaging(0.545)	.	ENSP00000233242		CCDS1703.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266137	41266137	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	36	19	.	.	ENST00000349496.5:c.134C>A	p.Ser45Tyr	p.S45Y	ENST00000349496	NM_001904.3	45	tCt/tAt	0	1	1	UPI000012862F	0	NA	ENST00000349496	pathogenic	ENSG00000168036	2514		55	2.01		HGNC	p.S45Y	rs121913409,COSM5692	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266137,C,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/Y		A	medium	414/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S45Y	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser45Tyr,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Ser45Tyr,ENST00000441708,;CTNNB1,missense_variant,p.Ser38Tyr,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	134/2346	S45Y	CTNB1_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000344456		CCDS2694.1			1	
ANTXRL	0	LGGM	GRCh37	10	47701160	47701160	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	10	20	.	.	ENST00000447511.2:c.1736C>A	p.Pro579His	p.P579H	ENST00000447511	NM_001278688.1	579	cCc/cAc	0	1	1	UPI00015B6A6A	0		ENST00000447511		ENSG00000198250	27277		30			HGNC	p.P579H		ANTXRL		SNV							ENST00000447511	protein_coding					P/H		A		2001/2284			deleterious(0)	H3BVE1_HUMAN,H3BPS2_HUMAN			YES	ANTXRL,missense_variant,p.Pro579His,ENST00000447511,NM_001278688.1;ANTXRL,synonymous_variant,p.=,ENST00000537271,;ANTXRL,3_prime_UTR_variant,,ENST00000424375,;							MODERATE	1736/1896					Transcript		probably_damaging(0.98)	.	ENSP00000455449		CCDS60524.1			1	
GRSF1	0	LGGM	GRCh37	4	71697294	71697294	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	24	20	.	.	ENST00000254799.6:c.912C>G	p.Asn304Lys	p.N304K	ENST00000254799	NM_002092.3	304	aaC/aaG	0	1	1	UPI0001838834	0	getma.org/pdb.php?prot=GRSF1_HUMAN&from=252&to=320&var=N304K	ENST00000254799		ENSG00000132463	4610		44	-0.08		HGNC	p.N142K		GRSF1		SNV							ENST00000502323	protein_coding	getma.org/?cm=var&var=hg19,4,71697294,G,C&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF26,SMART_domains:SM00360,Superfamily_domains:SSF54928		N/K		C	neutral	1030/6666		getma.org/?cm=msa&ty=f&p=GRSF1_HUMAN&rb=252&re=320&var=N304K	tolerated(0.44)				YES	GRSF1,missense_variant,p.Asn304Lys,ENST00000254799,NM_002092.3;GRSF1,missense_variant,p.Asn142Lys,ENST00000439371,NM_001098477.1;GRSF1,missense_variant,p.Asn277Lys,ENST00000499044,;GRSF1,missense_variant,p.Asn142Lys,ENST00000502323,;GRSF1,missense_variant,p.Asn241Lys,ENST00000514161,;GRSF1,missense_variant,p.Asn186Lys,ENST00000545193,;GRSF1,intron_variant,,ENST00000508091,;GRSF1,non_coding_transcript_exon_variant,,ENST00000505068,;GRSF1,intron_variant,,ENST00000506453,;							MODERATE	912/1443	N304K	GRSF1_HUMAN			Transcript		benign(0.41)	.	ENSP00000254799		CCDS47069.1			1	
SUV39H2	0	LGGM	GRCh37	10	14938901	14938901	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	75	21	.	.	ENST00000354919.6:c.234G>T	p.Trp78Cys	p.W78C	ENST00000354919	NM_001193424.1	78	tgG/tgT	0	1	1	UPI0000136177	0	getma.org/pdb.php?prot=SUV92_HUMAN&from=47&to=96&var=W78C	ENST00000354919		ENSG00000152455	17287		96	4.515		HGNC	p.G30X		SUV39H2		SNV							ENST00000378331	protein_coding	getma.org/?cm=var&var=hg19,10,14938901,G,T&fts=all		Gene3D:2.40.50.40,Pfam_domain:PF00385,PIRSF_domain:PIRSF009343,PROSITE_patterns:PS00598,PROSITE_profiles:PS50013,PROSITE_profiles:PS51579,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF284,SMART_domains:SM00298,Superfamily_domains:SSF54160		W/C		T	high	234/1233		getma.org/?cm=msa&ty=f&p=SUV92_HUMAN&rb=47&re=96&var=W78C	deleterious(0)	C9JMB4_HUMAN,C9IYH9_HUMAN			YES	SUV39H2,missense_variant,p.Trp18Cys,ENST00000313519,NM_024670.3,NM_001193425.1;SUV39H2,missense_variant,p.Trp78Cys,ENST00000378325,NM_001193427.1,NM_001193426.1;SUV39H2,missense_variant,p.Trp78Cys,ENST00000354919,NM_001193424.1;SUV39H2,missense_variant,p.Trp18Cys,ENST00000433779,;SUV39H2,missense_variant,p.Trp18Cys,ENST00000420416,;SUV39H2,missense_variant,p.Trp18Cys,ENST00000412254,;SUV39H2,intron_variant,,ENST00000358298,;DCLRE1C,downstream_gene_variant,,ENST00000378289,;SUV39H2,stop_gained,p.Gly30Ter,ENST00000378331,;							MODERATE	234/1233	W78C	SUV92_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000346997		CCDS53494.1			1	
DGKG	0	LGGM	GRCh37	3	186015876	186015876	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	22	21	.	.	ENST00000265022.3:c.287G>A	p.Ser96Asn	p.S96N	ENST00000265022	NM_001080744.1	96	aGc/aAc	0	1	1	UPI000013D5AB	0	getma.org/pdb.php?prot=DGKG_HUMAN&from=1&to=200&var=S96N	ENST00000265022		ENSG00000058866	2853		43	1.5		HGNC	p.S96N		DGKG		SNV							ENST00000544847	protein_coding	getma.org/?cm=var&var=hg19,3,186015876,C,T&fts=all		hmmpanther:PTHR11255:SF36,hmmpanther:PTHR11255,Pfam_domain:PF14513		S/N		T	low	827/5805		getma.org/?cm=msa&ty=f&p=DGKG_HUMAN&rb=1&re=200&var=S96N	tolerated(0.15)				YES	DGKG,missense_variant,p.Ser96Asn,ENST00000265022,NM_001080744.1,NM_001346.2,NM_001080745.1;DGKG,missense_variant,p.Ser96Asn,ENST00000344484,;DGKG,missense_variant,p.Ser96Asn,ENST00000544847,;DGKG,missense_variant,p.Ser96Asn,ENST00000382164,;DGKG,non_coding_transcript_exon_variant,,ENST00000480809,;							MODERATE	287/2376	S96N	DGKG_HUMAN			Transcript		benign(0.242)	.	ENSP00000265022		CCDS3274.1			1	
PRSS27	0	LGGM	GRCh37	16	2764202	2764202	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	12	21	.	.	ENST00000302641.3:c.372C>T	p.Asp124=	p.D124=	ENST00000302641	NM_031948.3	124	gaC/gaT	0	1	1	UPI000000D71C	0		ENST00000302641		ENSG00000172382	15475		33			HGNC	p.D124D		PRSS27		SNV							ENST00000302641	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF67,SMART_domains:SM00020,Superfamily_domains:SSF50494		D		A		427/1130							YES	PRSS27,synonymous_variant,p.=,ENST00000302641,NM_031948.3;AC092117.1,downstream_gene_variant,,ENST00000410123,;PRSS27,3_prime_UTR_variant,,ENST00000562249,;PRSS27,3_prime_UTR_variant,,ENST00000565903,;PRSS27,non_coding_transcript_exon_variant,,ENST00000543965,;PRSS27,downstream_gene_variant,,ENST00000566492,;							LOW	372/873		PRS27_HUMAN			Transcript			.	ENSP00000306390		CCDS10476.1			1	
TTC40	0	LGGM	GRCh37	10	134647615	134647615	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	54	22	.	.	ENST00000368586.5:c.6879T>G	p.Pro2293=	p.P2293=	ENST00000368586	NM_001200049.2	2293	ccT/ccG	0	1	1	UPI0001B79116	0		ENST00000368586		ENSG00000171811	25247		76			HGNC	p.P454P		TTC40		SNV							ENST00000263170	protein_coding					P		C		6980/8278							YES	TTC40,synonymous_variant,p.=,ENST00000368586,NM_001200049.2;TTC40,synonymous_variant,p.=,ENST00000263170,;TTC40,synonymous_variant,p.=,ENST00000448925,;TTC40,downstream_gene_variant,,ENST00000476633,;							LOW	6879/8148		TTC40_HUMAN			Transcript			.	ENSP00000357575		CCDS58101.1			1	
C1R	0	LGGM	GRCh37	12	7188418	7188418	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	41	22	.	.	ENST00000542285.1:c.1380A>C	p.Gln460His	p.Q460H	ENST00000542285		460	caA/caC	0	1	1	UPI00020653A8	0		ENST00000542285		ENSG00000159403	1246		63			HGNC	p.Q460H		C1R		SNV			1				ENST00000542285	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001155,PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF78,SMART_domains:SM00020,Superfamily_domains:SSF50494		Q/H		G		1530/2112			tolerated(0.11)	H0YFH3_HUMAN,F5H3A3_HUMAN,F5H1N6_HUMAN,F5GWL0_HUMAN			YES	C1R,missense_variant,p.Gln460His,ENST00000542285,;C1R,missense_variant,p.Gln88His,ENST00000602480,NM_001733.4;C1R,missense_variant,p.Gln88His,ENST00000602286,;							MODERATE	1380/1962					Transcript		benign(0.004)	.	ENSP00000438615					1	
RTN4	0	LGGM	GRCh37	2	55209746	55209746	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	25	22	.	.	ENST00000337526.6:c.3265C>A	p.Gln1089Lys	p.Q1089K	ENST00000337526	NM_020532.4	1089	Cag/Aag	0	1	1	UPI000000D81D	0	getma.org/pdb.php?prot=RTN4_HUMAN&from=1005&to=1175&var=Q1089K	ENST00000337526		ENSG00000115310	14085		47	1.64		HGNC	p.Q96K		RTN4		SNV							ENST00000394609	protein_coding	getma.org/?cm=var&var=hg19,2,55209746,G,T&fts=all		Pfam_domain:PF02453,PROSITE_profiles:PS50845,hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25		Q/K		T	low	3509/4790		getma.org/?cm=msa&ty=f&p=RTN4_HUMAN&rb=1005&re=1175&var=Q1089K	deleterious(0.01)	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN			YES	RTN4,missense_variant,p.Gln1089Lys,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Gln883Lys,ENST00000394611,;RTN4,missense_variant,p.Gln883Lys,ENST00000357376,NM_207521.1;RTN4,missense_variant,p.Gln883Lys,ENST00000404909,;RTN4,missense_variant,p.Gln883Lys,ENST00000405240,;RTN4,missense_variant,p.Gln857Lys,ENST00000354474,;RTN4,missense_variant,p.Gln289Lys,ENST00000357732,NM_207520.1;RTN4,missense_variant,p.Gln270Lys,ENST00000317610,NM_153828.2;RTN4,missense_variant,p.Gln96Lys,ENST00000394609,NM_007008.2;RTN4,missense_variant,p.Gln242Lys,ENST00000402434,;RTN4,missense_variant,p.Gln113Lys,ENST00000438462,;RTN4,non_coding_transcript_exon_variant,,ENST00000486085,;							MODERATE	3265/3579	Q1089K	RTN4_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000337838		CCDS42684.1			1	
TPRG1	0	LGGM	GRCh37	3	188933079	188933079	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	23	23	.	.	ENST00000345063.3:c.211-2A>T		p.X71_splice	ENST00000345063	NM_198485.3			0	1	1	UPI00001C08BF	0		ENST00000345063		ENSG00000188001	24759		46			HGNC	-		TPRG1		SNV							ENST00000433971	protein_coding							T		-/5479				C9JDW1_HUMAN			YES	TPRG1,splice_acceptor_variant,,ENST00000345063,NM_198485.3;TPRG1,splice_acceptor_variant,,ENST00000433971,;TPRG1,splice_acceptor_variant,,ENST00000412373,;TPRG1,splice_acceptor_variant,,ENST00000456832,;TPRG1,upstream_gene_variant,,ENST00000425670,;TPRG1,splice_acceptor_variant,,ENST00000460613,;TPRG1,downstream_gene_variant,,ENST00000493725,;							HIGH	211/828		TPRG1_HUMAN			Transcript			.	ENSP00000341031		CCDS3292.1			1	
SIN3B	0	LGGM	GRCh37	19	16942361	16942361	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	26	24	.	.	ENST00000379803.1:c.284A>G	p.Asp95Gly	p.D95G	ENST00000379803	NM_015260.2	95	gAc/gGc	0	1	1	UPI0000425EFA	0	getma.org/pdb.php?prot=SIN3B_HUMAN&from=59&to=105&var=D95G	ENST00000379803		ENSG00000127511	19354		50	1.445		HGNC	p.D95G		SIN3B		SNV							ENST00000248054	protein_coding	getma.org/?cm=var&var=hg19,19,16942361,A,G&fts=all		Gene3D:1g1eB00,Pfam_domain:PF02671,PROSITE_profiles:PS51477,hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1,Superfamily_domains:SSF47762		D/G		G	low	298/5129		getma.org/?cm=msa&ty=f&p=SIN3B_HUMAN&rb=59&re=105&var=D95G	deleterious(0)				YES	SIN3B,missense_variant,p.Asp95Gly,ENST00000379803,NM_015260.2;SIN3B,missense_variant,p.Asp95Gly,ENST00000248054,;SIN3B,missense_variant,p.Asp95Gly,ENST00000596802,;							MODERATE	284/3489	D95G	SIN3B_HUMAN			Transcript		possibly_damaging(0.542)	.	ENSP00000369131		CCDS32946.1			1	
ROR1	0	LGGM	GRCh37	1	64606071	64606071	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	31	24	.	.	ENST00000371079.1:c.890T>C	p.Ile297Thr	p.I297T	ENST00000371079	NM_005012.3	297	aTc/aCc	0	1	1	UPI00001AF82C	0	NA	ENST00000371079		ENSG00000185483	10256		55	1.24		HGNC	p.I297T		ROR1		SNV							ENST00000371080	protein_coding	getma.org/?cm=var&var=hg19,1,64606071,T,C&fts=all		Gene3D:2.40.20.10,Pfam_domain:PF01392,PIRSF_domain:PIRSF000624,PROSITE_profiles:PS50038,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132		I/T		C	low	1265/5832		getma.org/?cm=msa&ty=f&p=ROR1_HUMAN&rb=170&re=297&var=I297T	deleterious(0.01)				YES	ROR1,missense_variant,p.Ile297Thr,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Ile297Thr,ENST00000371080,NM_001083592.1;ROR1,5_prime_UTR_variant,,ENST00000545203,;RP11-24J23.2,intron_variant,,ENST00000424995,;ROR1,downstream_gene_variant,,ENST00000482426,;							MODERATE	890/2814	I297T	ROR1_HUMAN			Transcript		possibly_damaging(0.566)	.	ENSP00000360120		CCDS626.1			1	
GABRR2	0	LGGM	GRCh37	6	89977745	89977745	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	27	24	.	.	ENST00000402938.3:c.583G>T	p.Glu195Ter	p.E195*	ENST00000402938	NM_002043.3	195	Gag/Tag	0	1	1	UPI000012B0DB	0	NA	ENST00000402938		ENSG00000111886	4091		51	0		HGNC	p.E220X		GABRR2		SNV							ENST00000402938	protein_coding	getma.org/?cm=var&var=hg19,6,89977745,C,A&fts=all		hmmpanther:PTHR18945:SF197,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932		E/*		A	NA	717/1682		NA		B4DER2_HUMAN			YES	GABRR2,stop_gained,p.Glu195Ter,ENST00000402938,NM_002043.3;GABRR2,stop_gained,p.Glu220Ter,ENST00000602399,;GABRR2,downstream_gene_variant,,ENST00000602808,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602432,;							HIGH	583/1398	E220*	GBRR2_HUMAN			Transcript			.	ENSP00000386029		CCDS5020.3			1	
C22orf39	0	LGGM	GRCh37	22	19429188	19429188	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	33	24	.	.				ENST00000399562	NM_173793.4			0	1	1	UPI0000D4CFB9	0	NA	ENST00000399562		ENSG00000242259	27012		57	0	112	HGNC	p.N74K		C22orf39		SNV							ENST00000399568	protein_coding	getma.org/?cm=var&var=hg19,22,19429188,A,C&fts=all						C	neutral	-/3350		getma.org/?cm=msa&ty=f&p=F5H3A8_HUMAN&rb=1&re=117&var=N111K					YES	C22orf39,missense_variant,p.Asn111Lys,ENST00000542103,NM_001166242.1;C22orf39,missense_variant,p.Asn74Lys,ENST00000399568,;HIRA,intron_variant,,ENST00000541063,;HIRA,intron_variant,,ENST00000546308,;C22orf39,downstream_gene_variant,,ENST00000399562,NM_173793.4;C22orf39,downstream_gene_variant,,ENST00000333059,;C22orf39,intron_variant,,ENST00000509549,;HIRA,intron_variant,,ENST00000452818,;							MODIFIER	-/429	N111K	CV039_HUMAN			Transcript			.	ENSP00000382474		CCDS33599.2			1	
KCNH4	0	LGGM	GRCh37	17	40323819	40323819	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	7	24	.	.	ENST00000264661.3:c.1182G>A	p.Leu394=	p.L394=	ENST00000264661	NM_012285.2	394	ctG/ctA	0	1	1	UPI000012DCA8	0		ENST00000264661		ENSG00000089558	6253		31			HGNC	p.L394L		KCNH4		SNV							ENST00000264661	protein_coding			hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378,Pfam_domain:PF00520		L		T		1515/3920							YES	KCNH4,synonymous_variant,p.=,ENST00000264661,NM_012285.2;KCNH4,synonymous_variant,p.=,ENST00000607371,;							LOW	1182/3054		KCNH4_HUMAN			Transcript			.	ENSP00000264661		CCDS11420.1			1	
OXSM	0	LGGM	GRCh37	3	25833148	25833148	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	39	25	.	.	ENST00000280701.3:c.637G>A	p.Ala213Thr	p.A213T	ENST00000280701	NM_017897.2	213	Gct/Act	0	1	1	UPI000004713F	0	getma.org/pdb.php?prot=OXSM_HUMAN&from=41&to=291&var=A213T	ENST00000280701		ENSG00000151093	26063		64	1.04		HGNC	p.A213T	rs565892479	OXSM		SNV							ENST00000420173	protein_coding	getma.org/?cm=var&var=hg19,3,25833148,G,A&fts=all	A:0	hmmpanther:PTHR11712,PROSITE_patterns:PS00606,Gene3D:3.40.47.10,TIGRFAM_domain:TIGR03150,Pfam_domain:PF00109,SMART_domains:SM00825,PIRSF_domain:PIRSF000447,Superfamily_domains:SSF53901		A/T		A	low	736/1519		getma.org/?cm=msa&ty=f&p=OXSM_HUMAN&rb=41&re=291&var=A213T	deleterious(0.02)	C9JQQ2_HUMAN,C9J2G3_HUMAN,B4E3Q7_HUMAN	A:0	A:0.001	YES	OXSM,missense_variant,p.Ala213Thr,ENST00000280701,NM_017897.2;OXSM,missense_variant,p.Ala213Thr,ENST00000420173,NM_001145391.1;OXSM,missense_variant,p.Ala213Thr,ENST00000452098,;OXSM,missense_variant,p.Ala213Thr,ENST00000428266,;NGLY1,upstream_gene_variant,,ENST00000417874,NM_001145294.1;OXSM,intron_variant,,ENST00000449808,;OXSM,downstream_gene_variant,,ENST00000464688,;OXSM,intron_variant,,ENST00000448177,;	0.000116	A:0.0002					MODERATE	637/1380	A213T	OXSM_HUMAN		A:0	Transcript		benign(0.141)	.	ENSP00000280701	8.24E-06	CCDS2643.1		A:0	1	
PTPRR	0	LGGM	GRCh37	12	71286706	71286706	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	52	26	.	.	ENST00000283228.2:c.110G>C	p.Ser37Thr	p.S37T	ENST00000283228	NM_002849.3	37	aGt/aCt	0	1	1	UPI000013DD2F	0	NA	ENST00000283228		ENSG00000153233	9680		78	0.895		HGNC	p.S37T		PTPRR		SNV							ENST00000283228	protein_coding	getma.org/?cm=var&var=hg19,12,71286706,C,G&fts=all		PIRSF_domain:PIRSF001997		S/T		G	low	563/3529		getma.org/?cm=msa&ty=f&p=PTPRR_HUMAN&rb=1&re=200&var=S37T	deleterious_low_confidence(0.02)	Q68CP6_HUMAN,F8VVE9_HUMAN			YES	PTPRR,missense_variant,p.Ser37Thr,ENST00000283228,NM_002849.3;							MODERATE	110/1974	S37T	PTPRR_HUMAN			Transcript		benign(0.033)	.	ENSP00000283228		CCDS8998.1			1	
PCDHGC3	0	LGGM	GRCh37	5	140857632	140857632	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	51	27	.	.	ENST00000308177.3:c.1949A>G	p.Asp650Gly	p.D650G	ENST00000308177	NM_002588.2	650	gAc/gGc	0	1	1	UPI000006F34F	0	NA	ENST00000308177		ENSG00000240184	8716		78	4.65		HGNC	p.D650G		PCDHGC3		SNV							ENST00000308177	protein_coding	getma.org/?cm=var&var=hg19,5,140857632,A,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF70,SMART_domains:SM00112,Superfamily_domains:SSF49313		D/G		G	high	2053/4711		getma.org/?cm=msa&ty=f&p=PCDGK_HUMAN&rb=580&re=667&var=D650G	deleterious(0)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGC3,missense_variant,p.Asp650Gly,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;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;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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,;							MODERATE	1949/2805	D650G	PCDGK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312070		CCDS4261.1			1	
AARS	0	LGGM	GRCh37	16	70304221	70304221	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	10	29	.	.	ENST00000261772.8:c.694C>T	p.Pro232Ser	p.P232S	ENST00000261772	NM_001605.2	232	Cct/Tct	0	1	1	UPI0000169F0B	0	getma.org/pdb.php?prot=SYAC_HUMAN&from=9&to=597&var=P232S	ENST00000261772		ENSG00000090861	20		39	1.37		HGNC	p.P232S		AARS		SNV			1				ENST00000261772	protein_coding	getma.org/?cm=var&var=hg19,16,70304221,G,A&fts=all		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		P/S		A	low	838/3477		getma.org/?cm=msa&ty=f&p=SYAC_HUMAN&rb=9&re=597&var=P232S	tolerated(0.35)				YES	AARS,missense_variant,p.Pro232Ser,ENST00000261772,NM_001605.2;AARS,upstream_gene_variant,,ENST00000569790,;AARS,upstream_gene_variant,,ENST00000566969,;							MODERATE	694/2907	P232S	SYAC_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000261772		CCDS32474.1			1	
FMNL1	0	LGGM	GRCh37	17	43323577	43323577	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	10	29	.	.	ENST00000331495.3:c.3091T>C	p.Ser1031Pro	p.S1031P	ENST00000331495	NM_005892.3	1031	Tca/Cca	0	1	1	UPI0000246EE9	0	NA	ENST00000331495		ENSG00000184922	1212		39	1.725		HGNC	p.S1031P		FMNL1		SNV							ENST00000331495	protein_coding	getma.org/?cm=var&var=hg19,17,43323577,T,C&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,Low_complexity_(Seg):seg,SMART_domains:SM00498		S/P		C	low	3427/4101		getma.org/?cm=msa&ty=f&p=FMNL_HUMAN&rb=999&re=1100&var=S1031P	tolerated(0.28)				YES	FMNL1,missense_variant,p.Ser1031Pro,ENST00000331495,NM_005892.3;FMNL1,missense_variant,p.Ser1031Pro,ENST00000328118,;FMNL1,missense_variant,p.Ser609Pro,ENST00000587489,;FMNL1,missense_variant,p.Ser361Pro,ENST00000586643,;FMNL1,missense_variant,p.Ser64Pro,ENST00000586092,;FMNL1,3_prime_UTR_variant,,ENST00000589911,;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,;FMNL1,splice_region_variant,,ENST00000587856,;							MODERATE	3091/3303	S1031P	FMNL_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000329219		CCDS11497.1			1	
ADAMTS2	0	LGGM	GRCh37	5	178567038	178567038	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	50	30	.	.	ENST00000251582.7:c.1630-2A>C		p.X544_splice	ENST00000251582	NM_014244.4			0	1	1	UPI00001AE729	0		ENST00000251582		ENSG00000087116	218		80			HGNC	-		ADAMTS2		SNV			1				ENST00000251582	protein_coding							G		-/6754							YES	ADAMTS2,splice_acceptor_variant,,ENST00000251582,NM_014244.4;							HIGH	1630/3636		ATS2_HUMAN			Transcript			.	ENSP00000251582		CCDS4444.1			1	
HIST1H1B	0	LGGM	GRCh37	6	27835194	27835194	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	45	32	.	.	ENST00000331442.3:c.114G>T	p.Ala38=	p.A38=	ENST00000331442	NM_005322.2	38	gcG/gcT	0	1	1	UPI0000001BDA	0		ENST00000331442		ENSG00000184357	4719		77			HGNC	p.A38A	COSM741689	HIST1H1B		SNV						1	ENST00000331442	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11467:SF24,hmmpanther:PTHR11467,Gene3D:1.10.10.10,SMART_domains:SM00526,Prints_domain:PR00624		A		A		166/790							YES	HIST1H1B,synonymous_variant,p.=,ENST00000331442,NM_005322.2;HIST1H2AL,downstream_gene_variant,,ENST00000357320,NM_003511.2;HIST1H3I,downstream_gene_variant,,ENST00000328488,NM_003533.2;HIST1H2BPS2,upstream_gene_variant,,ENST00000402707,;					1		LOW	114/681		H15_HUMAN			Transcript			.	ENSP00000330074		CCDS4635.1			1	
CDK5RAP1	0	LGGM	GRCh37	20	31982911	31982911	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	31	32	.	.	ENST00000346416.2:c.316A>T	p.Thr106Ser	p.T106S	ENST00000346416	NM_001278169.1	106	Acc/Tcc	0	1		UPI00001AA262	0	NA	ENST00000357886		ENSG00000101391	15880		63	2.28		HGNC	p.T106S		CDK5RAP1		SNV							ENST00000339269	protein_coding	getma.org/?cm=var&var=hg19,20,31982911,T,A&fts=all		HAMAP:MF_01864,Pfam_domain:PF00919,PROSITE_profiles:PS51449,hmmpanther:PTHR11918,hmmpanther:PTHR11918:SF48,TIGRFAM_domain:TIGR00089,TIGRFAM_domain:TIGR01574		T/S		A	medium	470/2164		getma.org/?cm=msa&ty=f&p=CK5P1_HUMAN&rb=101&re=204&var=T106S	deleterious(0)					CDK5RAP1,missense_variant,p.Thr106Ser,ENST00000357886,;CDK5RAP1,missense_variant,p.Thr106Ser,ENST00000346416,NM_001278169.1,NM_016408.3,NM_001278167.1;CDK5RAP1,missense_variant,p.Thr16Ser,ENST00000473997,NM_016082.4;CDK5RAP1,missense_variant,p.Thr106Ser,ENST00000339269,NM_001278168.1;CDK5RAP1,missense_variant,p.Thr106Ser,ENST00000544843,;CDK5RAP1,non_coding_transcript_exon_variant,,ENST00000477105,;CDK5RAP1,intron_variant,,ENST00000481964,;CDK5RAP1,intron_variant,,ENST00000496381,;CDK5RAP1,intron_variant,,ENST00000482967,;CDK5RAP1,intron_variant,,ENST00000471264,;CDK5RAP1,intron_variant,,ENST00000461356,;CDK5RAP1,intron_variant,,ENST00000488723,;CDK5RAP1,intron_variant,,ENST00000460043,;							MODERATE	316/1806	T106S	CK5P1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000350558					1	
ETAA1	0	LGGM	GRCh37	2	67631722	67631722	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	93	36	.	.	ENST00000272342.5:c.1908A>G	p.Ile636Met	p.I636M	ENST00000272342	NM_019002.3	636	atA/atG	0	1	1	UPI00001414BC	0	NA	ENST00000272342		ENSG00000143971	24648		129	0		HGNC	p.I636M		ETAA1		SNV							ENST00000272342	protein_coding	getma.org/?cm=var&var=hg19,2,67631722,A,G&fts=all		hmmpanther:PTHR16434:SF1,hmmpanther:PTHR16434,Pfam_domain:PF15350		I/M		G	neutral	2038/3418		getma.org/?cm=msa&ty=f&p=ETAA1_HUMAN&rb=411&re=925&var=I636M	tolerated(0.25)				YES	ETAA1,missense_variant,p.Ile636Met,ENST00000272342,NM_019002.3;ETAA1,intron_variant,,ENST00000462772,;							MODERATE	1908/2781	I636M	ETAA1_HUMAN			Transcript		unknown(0)	.	ENSP00000272342		CCDS1882.1			1	
RPUSD3	0	LGGM	GRCh37	3	9881945	9881945	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	69	36	.	.	ENST00000383820.5:c.647T>C	p.Val216Ala	p.V216A	ENST00000383820	NM_173659.3	216	gTc/gCc	0	1	1	UPI000066D9E0	0	NA	ENST00000383820		ENSG00000156990	28437		105	0.58		HGNC	p.V201A		RPUSD3		SNV							ENST00000433535	protein_coding	getma.org/?cm=var&var=hg19,3,9881945,A,G&fts=all		hmmpanther:PTHR10436:SF46,hmmpanther:PTHR10436,Pfam_domain:PF00849,Superfamily_domains:SSF55120		V/A		G	neutral	649/1225		getma.org/?cm=msa&ty=f&p=RUSD3_HUMAN&rb=89&re=252&var=V216A	deleterious(0.02)	B4DS39_HUMAN,A8K773_HUMAN			YES	RPUSD3,missense_variant,p.Val216Ala,ENST00000383820,NM_173659.3;RPUSD3,missense_variant,p.Val201Ala,ENST00000433535,NM_001142547.1;RPUSD3,missense_variant,p.Val184Ala,ENST00000424438,;RPUSD3,missense_variant,p.Val212Ala,ENST00000418713,;RPUSD3,missense_variant,p.Val45Ala,ENST00000423108,;RPUSD3,synonymous_variant,p.=,ENST00000427174,;TTLL3,intron_variant,,ENST00000455274,;TTLL3,downstream_gene_variant,,ENST00000383827,;TTLL3,downstream_gene_variant,,ENST00000547186,NM_001025930.3;TTLL3,downstream_gene_variant,,ENST00000397241,;TTLL3,downstream_gene_variant,,ENST00000426895,;ARPC4-TTLL3,downstream_gene_variant,,ENST00000397256,NM_001198793.1;TTLL3,downstream_gene_variant,,ENST00000430793,;RPUSD3,downstream_gene_variant,,ENST00000433972,;RPUSD3,downstream_gene_variant,,ENST00000433555,;TTLL3,downstream_gene_variant,,ENST00000471058,;RPUSD3,downstream_gene_variant,,ENST00000485705,;RPUSD3,downstream_gene_variant,,ENST00000473522,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000484134,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000475470,;RPUSD3,non_coding_transcript_exon_variant,,ENST00000464783,;TTLL3,downstream_gene_variant,,ENST00000496526,;TTLL3,downstream_gene_variant,,ENST00000483051,;TTLL3,downstream_gene_variant,,ENST00000473661,;TTLL3,downstream_gene_variant,,ENST00000427220,;TTLL3,downstream_gene_variant,,ENST00000438141,;TTLL3,downstream_gene_variant,,ENST00000430390,;RPUSD3,upstream_gene_variant,,ENST00000466141,;RPUSD3,downstream_gene_variant,,ENST00000472381,;RPUSD3,downstream_gene_variant,,ENST00000451405,;RPUSD3,downstream_gene_variant,,ENST00000460909,;							MODERATE	647/1056	V216A	RUSD3_HUMAN			Transcript		benign(0.088)	.	ENSP00000373331		CCDS2586.2			1	
OBSL1	0	LGGM	GRCh37	2	220424096	220424096	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	85	37	.	.	ENST00000404537.1:c.3077G>T	p.Gly1026Val	p.G1026V	ENST00000404537	NM_015311.2	1026	gGg/gTg	0	1	1	UPI0000E07EA0	0	getma.org/pdb.php?prot=OBSL1_HUMAN&from=1001&to=1076&var=G1026V	ENST00000404537		ENSG00000124006	29092		122	4.07		HGNC	p.G1026V		OBSL1		SNV			1				ENST00000373876	protein_coding	getma.org/?cm=var&var=hg19,2,220424096,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/V		A	high	3134/5841		getma.org/?cm=msa&ty=f&p=OBSL1_HUMAN&rb=1001&re=1076&var=G1026V	deleterious(0)				YES	OBSL1,missense_variant,p.Gly1026Val,ENST00000404537,NM_015311.2;OBSL1,missense_variant,p.Gly1026Val,ENST00000265318,;OBSL1,missense_variant,p.Gly1026Val,ENST00000603926,NM_001173431.1;OBSL1,missense_variant,p.Gly1026Val,ENST00000373876,;OBSL1,missense_variant,p.Gly17Val,ENST00000265317,;OBSL1,missense_variant,p.Gly79Val,ENST00000604031,;OBSL1,missense_variant,p.Gly20Val,ENST00000456147,;OBSL1,downstream_gene_variant,,ENST00000373873,NM_001173408.1;OBSL1,downstream_gene_variant,,ENST00000289656,;RP11-256I23.2,non_coding_transcript_exon_variant,,ENST00000597192,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,downstream_gene_variant,,ENST00000462385,;OBSL1,upstream_gene_variant,,ENST00000472388,;OBSL1,upstream_gene_variant,,ENST00000596474,;							MODERATE	3077/5691	G1026V	OBSL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000385636		CCDS46520.1			1	
HSPB8	0	LGGM	GRCh37	12	119617226	119617226	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	80	37	.	.	ENST00000281938.2:c.109A>G	p.Met37Val	p.M37V	ENST00000281938	NM_014365.2	37	Atg/Gtg	0	1	1	UPI0000037C1B	0	NA	ENST00000281938		ENSG00000152137	30171		117	1.67		HGNC	p.M37V		HSPB8		SNV			1				ENST00000281938	protein_coding	getma.org/?cm=var&var=hg19,12,119617226,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF27,PIRSF_domain:PIRSF036514,Prints_domain:PR00299		M/V		G	low	780/2150		getma.org/?cm=msa&ty=f&p=HSPB8_HUMAN&rb=1&re=92&var=M37V	deleterious(0.02)				YES	HSPB8,missense_variant,p.Met37Val,ENST00000281938,NM_014365.2;HSPB8,upstream_gene_variant,,ENST00000541798,;RP11-64B16.3,upstream_gene_variant,,ENST00000538405,;RP11-64B16.4,downstream_gene_variant,,ENST00000535921,;							MODERATE	109/591	M37V	HSPB8_HUMAN			Transcript		benign(0.02)	.	ENSP00000281938		CCDS9189.1			1	
MDN1	0	LGGM	GRCh37	6	90362804	90362804	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	48	38	.	.	ENST00000369393.3:c.15732A>G	p.Lys5244=	p.K5244=	ENST00000369393		5244	aaA/aaG	0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		86			HGNC	p.K5244K		MDN1		SNV							ENST00000428876	protein_coding			PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58		K		C		15848/18413				M0QXR3_HUMAN			YES	MDN1,synonymous_variant,p.=,ENST00000369393,;MDN1,synonymous_variant,p.=,ENST00000428876,NM_014611.1;							LOW	15732/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
RNF133	0	LGGM	GRCh37	7	122338191	122338191	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	57	38	.	.	ENST00000340112.2:c.782A>C	p.Glu261Ala	p.E261A	ENST00000340112	NM_139175.1	261	gAa/gCa	0	1	1	UPI0000070D9A	0	getma.org/pdb.php?prot=RN133_HUMAN&from=254&to=299&var=E261A	ENST00000340112		ENSG00000188050	21154		95	2.355		HGNC	p.E261A		RNF133		SNV							ENST00000340112	protein_coding	getma.org/?cm=var&var=hg19,7,122338191,T,G&fts=all		PROSITE_profiles:PS50089,hmmpanther:PTHR22765:SF38,hmmpanther:PTHR22765,Gene3D:3.30.40.10,Pfam_domain:PF13639,SMART_domains:SM00184,Superfamily_domains:SSF57850		E/A		G	medium	1020/1445		getma.org/?cm=msa&ty=f&p=RN133_HUMAN&rb=254&re=299&var=E261A	deleterious(0)				YES	RNF133,missense_variant,p.Glu261Ala,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,;							MODERATE	782/1131	E261A	RN133_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000344489		CCDS5784.1			1	
FSIP2	0	LGGM	GRCh37	2	186667307	186667307	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	65	39	.	.	ENST00000343098.5:c.13541A>T	p.Asp4514Val	p.D4514V	ENST00000343098	NM_173651.2	4514	gAt/gTt	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		104	0.55		HGNC	p.D4425V		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186667307,A,T&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		D/V		T	neutral	13274/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=4311&re=4510&var=D4425V						FSIP2,missense_variant,p.Asp4514Val,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Asp4425Val,ENST00000424728,;AC008174.3,upstream_gene_variant,,ENST00000436557,;AC008174.3,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;							MODERATE	13274/20724	D4425V	FSIP2_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000401306					1	
ZNF462	0	LGGM	GRCh37	9	109765581	109765581	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	9	40	.	.	ENST00000277225.5:c.7063C>T	p.Arg2355Cys	p.R2355C	ENST00000277225		2355	Cgt/Tgt	0	1	1	UPI0000470106	0	NA	ENST00000277225		ENSG00000148143	21684		49	2.415		HGNC	p.R312C		ZNF462		SNV							ENST00000542028	protein_coding	getma.org/?cm=var&var=hg19,9,109765581,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385		R/C		T	medium	7352/10414		getma.org/?cm=msa&ty=f&p=ZN462_HUMAN&rb=2324&re=2506&var=R2355C		U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,missense_variant,p.Arg2355Cys,ENST00000277225,;ZNF462,missense_variant,p.Arg2415Cys,ENST00000457913,NM_021224.4;ZNF462,missense_variant,p.Arg1298Cys,ENST00000374686,;ZNF462,missense_variant,p.Arg1261Cys,ENST00000441147,;ZNF462,missense_variant,p.Arg312Cys,ENST00000542028,;RP11-508N12.2,intron_variant,,ENST00000439901,;							MODERATE	7063/7521	R2355C	ZN462_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000277225		CCDS35096.1			1	
TMC3	0	LGGM	GRCh37	15	81631079	81631079	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	51	41	.	.	ENST00000359440.5:c.1998G>C	p.Glu666Asp	p.E666D	ENST00000359440	NM_001080532.1	666	gaG/gaC	0	1	1	UPI00006C154A	0	NA	ENST00000359440		ENSG00000188869	22995		92	1.195		HGNC	p.E666D		TMC3		SNV							ENST00000359440	protein_coding	getma.org/?cm=var&var=hg19,15,81631079,C,G&fts=all		hmmpanther:PTHR23302,hmmpanther:PTHR23302:SF35		E/D		G	low	2134/4641		getma.org/?cm=msa&ty=f&p=TMC3_HUMAN&rb=615&re=814&var=E666D	tolerated(0.13)				YES	TMC3,missense_variant,p.Glu667Asp,ENST00000558726,;TMC3,missense_variant,p.Glu666Asp,ENST00000359440,NM_001080532.1;RP11-761I4.3,intron_variant,,ENST00000559781,;RP11-761I4.3,intron_variant,,ENST00000560851,;RP11-761I4.3,intron_variant,,ENST00000560973,;RP11-761I4.3,upstream_gene_variant,,ENST00000559277,;TMC3,non_coding_transcript_exon_variant,,ENST00000559982,;							MODERATE	1998/3303	E666D	TMC3_HUMAN			Transcript		benign(0.011)	.	ENSP00000352413		CCDS45324.1			1	
ATP8A1	0	LGGM	GRCh37	4	42629060	42629060	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	57	42	.	.	ENST00000381668.5:c.116T>G	p.Ile39Ser	p.I39S	ENST00000381668	NM_006095.2	39	aTt/aGt	0	1	1	UPI0000125063	0	NA	ENST00000381668		ENSG00000124406	13531		99	2.66		HGNC	p.I39S		ATP8A1		SNV							ENST00000510289	protein_coding	getma.org/?cm=var&var=hg19,4,42629060,A,C&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56		I/S		C	medium	348/8270		getma.org/?cm=msa&ty=f&p=AT8A1_HUMAN&rb=1&re=103&var=I39S	deleterious(0)	H0YAJ4_HUMAN			YES	ATP8A1,missense_variant,p.Ile39Ser,ENST00000381668,NM_006095.2;ATP8A1,missense_variant,p.Ile39Ser,ENST00000264449,NM_001105529.1;ATP8A1,missense_variant,p.Ile39Ser,ENST00000510289,;							MODERATE	116/3495	I39S	AT8A1_HUMAN			Transcript		benign(0.042)	.	ENSP00000371084		CCDS3466.1			1	
PBX4	0	LGGM	GRCh37	19	19675779	19675779	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	61	44	.	.	ENST00000251203.9:c.888A>T	p.Pro296=	p.P296=	ENST00000251203	NM_025245.2	296	ccA/ccT	0	1	1	UPI000013CCED	0		ENST00000251203		ENSG00000105717	13403		105			HGNC	p.P296P		PBX4		SNV							ENST00000251203	protein_coding			hmmpanther:PTHR11850:SF70,hmmpanther:PTHR11850		P		A		1175/1724							YES	PBX4,synonymous_variant,p.=,ENST00000251203,NM_025245.2;PBX4,3_prime_UTR_variant,,ENST00000557978,;PBX4,3_prime_UTR_variant,,ENST00000558222,;PBX4,upstream_gene_variant,,ENST00000558276,;							LOW	888/1125		PBX4_HUMAN			Transcript			.	ENSP00000251203		CCDS12406.1			1	
ARMC2	0	LGGM	GRCh37	6	109285388	109285388	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	84	46	.	.	ENST00000392644.4:c.2158A>T	p.Arg720Trp	p.R720W	ENST00000392644	NM_032131.4	720	Agg/Tgg	0	1	1	UPI000022CC80	0	NA	ENST00000392644		ENSG00000118690	23045		130	0.55		HGNC	p.R555W		ARMC2		SNV							ENST00000368972	protein_coding	getma.org/?cm=var&var=hg19,6,109285388,A,T&fts=all		hmmpanther:PTHR21356,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		R/W		T	neutral	2326/3241		getma.org/?cm=msa&ty=f&p=ARMC2_HUMAN&rb=444&re=813&var=R720W	deleterious(0)	G5E993_HUMAN,B0QZC1_HUMAN			YES	ARMC2,missense_variant,p.Arg720Trp,ENST00000392644,NM_032131.4;ARMC2,missense_variant,p.Arg555Trp,ENST00000368972,NM_001286609.1;ARMC2,non_coding_transcript_exon_variant,,ENST00000481850,;							MODERATE	2158/2604	R720W	ARMC2_HUMAN			Transcript		possibly_damaging(0.518)	.	ENSP00000376417		CCDS5069.2			1	
FOXD3	0	LGGM	GRCh37	1	63789307	63789307	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	77	47	.	.	ENST00000371116.2:c.578T>A	p.Leu193His	p.L193H	ENST00000371116	NM_012183.2	193	cTc/cAc	0	1	1	UPI000012ADCB	0	getma.org/pdb.php?prot=FOXD3_HUMAN&from=141&to=236&var=L193H	ENST00000371116		ENSG00000187140	3804		124	4.485		HGNC	p.L193H		FOXD3		SNV			1				ENST00000371116	protein_coding	getma.org/?cm=var&var=hg19,1,63789307,T,A&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00250,Prints_domain:PR00053,PROSITE_profiles:PS50039,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF121,SMART_domains:SM00339,Superfamily_domains:SSF46785		L/H		A	high	578/2068		getma.org/?cm=msa&ty=f&p=FOXD3_HUMAN&rb=141&re=236&var=L193H	deleterious(0)				YES	FOXD3,missense_variant,p.Leu193His,ENST00000371116,NM_012183.2;RP4-792G4.2,intron_variant,,ENST00000427268,;RP4-792G4.2,upstream_gene_variant,,ENST00000418244,;RP4-792G4.2,upstream_gene_variant,,ENST00000449386,;RP4-792G4.2,upstream_gene_variant,,ENST00000431294,;RP4-792G4.2,upstream_gene_variant,,ENST00000426393,;							MODERATE	578/1437	L193H	FOXD3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000360157		CCDS624.1			1	
PCDHGA8	0	LGGM	GRCh37	5	140773096	140773096	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	94	47	.	.	ENST00000398604.2:c.716C>T	p.Ala239Val	p.A239V	ENST00000398604	NM_032088.1	239	gCc/gTc	0	1	1	UPI000006FC06	0	getma.org/pdb.php?prot=PCDG8_HUMAN&from=134&to=242&var=A239V	ENST00000398604		ENSG00000253767	8706		141	2.085		HGNC	p.A239V		PCDHGA8		SNV							ENST00000398604	protein_coding	getma.org/?cm=var&var=hg19,5,140773096,C,T&fts=all		Gene3D:2.60.40.60,PROSITE_patterns:PS00232,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/V		T	medium	716/4605		getma.org/?cm=msa&ty=f&p=PCDG8_HUMAN&rb=134&re=242&var=A239V	deleterious_low_confidence(0.02)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA8,missense_variant,p.Ala239Val,ENST00000398604,NM_032088.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;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;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGB4,intron_variant,,ENST00000519479,NM_003736.2,NM_018925.2,NM_032098.1;							MODERATE	716/2799	A239V	PCDG8_HUMAN			Transcript		benign(0.075)	.	ENSP00000381605		CCDS47291.1			1	
NBEA	0	LGGM	GRCh37	13	35644856	35644856	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	78	48	.	.	ENST00000400445.3:c.1438G>T	p.Asp480Tyr	p.D480Y	ENST00000400445	NM_015678.4	480	Gat/Tat	0	1	1	UPI00004FF92F	0	NA	ENST00000400445		ENSG00000172915	7648		126	2.36		HGNC	p.D480Y		NBEA		SNV							ENST00000540320	protein_coding	getma.org/?cm=var&var=hg19,13,35644856,G,T&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743		D/Y		T	medium	1972/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=404&re=603&var=D480Y	deleterious(0)				YES	NBEA,missense_variant,p.Asp480Tyr,ENST00000540320,;NBEA,missense_variant,p.Asp480Tyr,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Asp480Tyr,ENST00000310336,;NBEA,missense_variant,p.Asp480Tyr,ENST00000379939,;NBEA,splice_region_variant,,ENST00000497540,;							MODERATE	1438/8841	D480Y	NBEA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000383295		CCDS45026.1			1	
ARGLU1	0	LGGM	GRCh37	13	107211834	107211834	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	64	50	.	.	ENST00000400198.3:c.519C>T	p.Leu173=	p.L173=	ENST00000400198	NM_018011.3	173	ctC/ctT	0	1	1	UPI00000373ED	0		ENST00000400198		ENSG00000134884	25482		114			HGNC	p.S23L		ARGLU1		SNV							ENST00000375926	protein_coding			Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31711,Pfam_domain:PF15346		L		A		764/3390							YES	ARGLU1,missense_variant,p.Ser23Leu,ENST00000375926,;ARGLU1,missense_variant,p.Ser23Leu,ENST00000360629,;ARGLU1,synonymous_variant,p.=,ENST00000400198,NM_018011.3;ARGLU1,upstream_gene_variant,,ENST00000472226,;							LOW	519/822		ARGL1_HUMAN			Transcript			.	ENSP00000383059		CCDS41906.1			1	
MARCH11	0	LGGM	GRCh37	5	16067847	16067847	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	69	51	.	.	ENST00000332432.8:c.942T>A	p.Ala314=	p.A314=	ENST00000332432	NM_001102562.1	314	gcT/gcA	0	1	1	UPI00015B3D4A	0		ENST00000332432		ENSG00000183654	33609		120			HGNC	p.A314A		MARCH11		SNV							ENST00000332432	protein_coding			hmmpanther:PTHR23012,hmmpanther:PTHR23012:SF67		A		T		1142/1741							YES	MARCH11,missense_variant,p.Leu54Gln,ENST00000507111,;MARCH11,synonymous_variant,p.=,ENST00000332432,NM_001102562.1;							LOW	942/1209		MARHB_HUMAN			Transcript			.	ENSP00000333181		CCDS47192.1			1	
CEP170	0	LGGM	GRCh37	1	243327611	243327611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110610	H110610N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	26	51	.	.	ENST00000366542.1:c.3651G>A	p.Met1217Ile	p.M1217I	ENST00000366542	NM_014812.2	1217	atG/atA	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		77	0		HGNC	p.M1119I		CEP170		SNV							ENST00000366543	protein_coding	getma.org/?cm=var&var=hg19,1,243327611,C,T&fts=all		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		M/I		T	neutral	3703/6828		getma.org/?cm=msa&ty=f&p=CE170_HUMAN&rb=1173&re=1217&var=M1217I	tolerated(0.52)	Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,missense_variant,p.Met1217Ile,ENST00000366542,NM_014812.2;CEP170,missense_variant,p.Met1119Ile,ENST00000366544,NM_001042404.1;CEP170,missense_variant,p.Met1119Ile,ENST00000366543,NM_001042405.1;CEP170,missense_variant,p.Met1181Ile,ENST00000336415,;CEP170,missense_variant,p.Met62Ile,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,upstream_gene_variant,,ENST00000437499,;RP11-261C10.4,upstream_gene_variant,,ENST00000422938,;CEP170,downstream_gene_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;							MODERATE	3651/4755	M1217I	CE170_HUMAN			Transcript		benign(0.001)	.	ENSP00000355500		CCDS44339.1			1	
ANKRD30B	0	LGGM	GRCh37	18	14757861	14757861	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	96	53	.	.	ENST00000358984.4:c.665G>A	p.Gly222Asp	p.G222D	ENST00000358984	NM_001145029.1	222	gGc/gAc	0	1	1	UPI0000425FF7	0	getma.org/pdb.php?prot=AN30B_HUMAN&from=176&to=270&var=G222D	ENST00000358984		ENSG00000180777	24165		149	-0.505		HGNC	p.G222D		ANKRD30B		SNV							ENST00000447268	protein_coding	getma.org/?cm=var&var=hg19,18,14757861,G,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50297,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF20,SMART_domains:SM00248,Superfamily_domains:SSF48403		G/D		A	neutral	845/4359		getma.org/?cm=msa&ty=f&p=AN30B_HUMAN&rb=176&re=270&var=G222D	tolerated(0.19)				YES	ANKRD30B,missense_variant,p.Gly222Asp,ENST00000358984,NM_001145029.1;ANKRD30B,missense_variant,p.Gly222Asp,ENST00000447268,;RNU6-1210P,upstream_gene_variant,,ENST00000363775,;ANKRD30B,intron_variant,,ENST00000579292,;ANKRD30B,missense_variant,p.Gly222Asp,ENST00000580206,;							MODERATE	665/4179	G222D	AN30B_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000351875		CCDS54182.1			1	
ABL2	0	LGGM	GRCh37	1	179087847	179087847	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	53	59	.	.	ENST00000502732.1:c.1098C>A	p.Tyr366Ter	p.Y366*	ENST00000502732	NM_001168237.1	366	taC/taA	0	1	1	UPI0000125140	0	NA	ENST00000502732		ENSG00000143322	77		112	0		HGNC	p.Y366X		ABL2		SNV							ENST00000511413	protein_coding	getma.org/?cm=var&var=hg19,1,179087847,G,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87,SMART_domains:SM00219,Superfamily_domains:SSF56112		Y/*		T	NA	1302/12144		NA					YES	ABL2,stop_gained,p.Tyr366Ter,ENST00000502732,NM_001168237.1,NM_007314.3,NM_001168238.1,NM_001168236.1;ABL2,stop_gained,p.Tyr330Ter,ENST00000408940,NM_001168239.1;ABL2,stop_gained,p.Tyr351Ter,ENST00000344730,NM_001136000.2,NM_005158.4;ABL2,stop_gained,p.Tyr351Ter,ENST00000512653,;ABL2,stop_gained,p.Tyr345Ter,ENST00000367623,;ABL2,stop_gained,p.Tyr366Ter,ENST00000511413,;ABL2,stop_gained,p.Tyr345Ter,ENST00000507173,;ABL2,stop_gained,p.Tyr330Ter,ENST00000504405,;ABL2,stop_gained,p.Tyr345Ter,ENST00000392043,NM_001136001.1;ABL2,non_coding_transcript_exon_variant,,ENST00000504324,;ABL2,non_coding_transcript_exon_variant,,ENST00000509520,;							HIGH	1098/3549	Y366*	ABL2_HUMAN			Transcript			.	ENSP00000427562		CCDS30947.1			1	
TUBB8	0	LGGM	GRCh37	10	93420	93420	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110610	H110610N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	109	60	.	.	ENST00000309812.4:c.912C>G	p.Asp304Glu	p.D304E	ENST00000309812	NM_177987.2	304	gaC/gaG	0	1	1	UPI000007238E	0	getma.org/pdb.php?prot=YI016_HUMAN&from=189&to=311&var=D232E	ENST00000309812		ENSG00000173876	20773		169	4.865		HGNC	p.D232E		TUBB8		SNV							ENST00000447903	protein_coding	getma.org/?cm=var&var=hg19,10,93420,G,C&fts=all		Superfamily_domains:SSF55307,SMART_domains:SM00865,Pfam_domain:PF03953,Gene3D:3.30.1330.20,hmmpanther:PTHR11588:SF55,hmmpanther:PTHR11588		D/E		C	high	975/1563		getma.org/?cm=msa&ty=f&p=YI016_HUMAN&rb=189&re=311&var=D232E	deleterious_low_confidence(0.02)	F5H0I4_HUMAN			YES	TUBB8,missense_variant,p.Asp232Glu,ENST00000447903,;TUBB8,missense_variant,p.Asp304Glu,ENST00000309812,NM_177987.2;TUBB8,downstream_gene_variant,,ENST00000332708,;TUBB8,downstream_gene_variant,,ENST00000413237,;TUBB8,downstream_gene_variant,,ENST00000482075,;RP11-631M21.6,downstream_gene_variant,,ENST00000416477,;							MODERATE	912/1335	D232E	TBB8_HUMAN			Transcript		benign(0.204)	.	ENSP00000311042		CCDS7051.1			1	
ANKIB1	0	LGGM	GRCh37	7	92027910	92027910	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110610	H110610N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	97	74	.	.	ENST00000265742.3:c.2917A>G	p.Ile973Val	p.I973V	ENST00000265742	NM_019004.1	973	Atc/Gtc	0	1	1	UPI00001C1E7C	0	NA	ENST00000265742		ENSG00000001629	22215		171	0.975		HGNC	p.I973V		ANKIB1		SNV							ENST00000265742	protein_coding	getma.org/?cm=var&var=hg19,7,92027910,A,G&fts=all				I/V		G	low	3293/6081		getma.org/?cm=msa&ty=f&p=AKIB1_HUMAN&rb=961&re=996&var=I973V	deleterious_low_confidence(0)	Q4VBX8_HUMAN,C9JZ63_HUMAN			YES	ANKIB1,missense_variant,p.Ile973Val,ENST00000265742,NM_019004.1;ANKIB1,3_prime_UTR_variant,,ENST00000422095,;ANKIB1,downstream_gene_variant,,ENST00000465883,;							MODERATE	2917/3270	I973V	AKIB1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000265742		CCDS47639.1			1	
GCNT7	0	LGGM	GRCh37	20	55072127	55072127	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110610	H110610N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110610N.bam, H110610T.bam	Illumina HiSeq	79	98	.	.	ENST00000243913.4:c.172A>T	p.Arg58Ter	p.R58*	ENST00000243913	NM_080615.1	58	Aga/Tga	0	1	1	UPI0000E5A355	0	NA	ENST00000243913		ENSG00000124091	16099		177	0		HGNC	p.R58X		GCNT7		SNV							ENST00000243913	protein_coding	getma.org/?cm=var&var=hg19,20,55072127,T,A&fts=all		hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF72,Pfam_domain:PF02485		R/*		A	NA	1244/2064		NA		F2Z6J8_HUMAN			YES	GCNT7,stop_gained,p.Arg58Ter,ENST00000243913,NM_080615.1;RTFDC1,intron_variant,,ENST00000023939,NM_016407.3,NM_001283036.1;RTFDC1,intron_variant,,ENST00000395881,NM_001283037.1;RTFDC1,intron_variant,,ENST00000357348,NM_001283035.1;RTFDC1,intron_variant,,ENST00000449062,;							HIGH	172/927	R180*	GCNT7_HUMAN			Transcript			.	ENSP00000243913					1	
MST1	0	LGGM	GRCh37	3	49723792	49723792	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	7	3	.	.	ENST00000449682.2:c.970C>T	p.Gln324Ter	p.Q324*	ENST00000449682	NM_020998.3	324	Caa/Taa	0	1		UPI0002065A7A	0	NA	ENST00000383728		ENSG00000173531	7380		10	0		HGNC	p.Q249X		MST1		SNV			1				ENST00000383728	protein_coding	getma.org/?cm=var&var=hg19,3,49723792,G,A&fts=all		Gene3D:2.40.20.10,Pfam_domain:PF00051,PROSITE_profiles:PS50070,SMART_domains:SM00130,Superfamily_domains:SSF57440		Q/*		A	NA	802/1434		NA						MST1,stop_gained,p.Gln324Ter,ENST00000449682,NM_020998.3;MST1,stop_gained,p.Gln249Ter,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,;							HIGH	745/795	Q310*	HGFL_HUMAN			Transcript			.	ENSP00000373234					1	
WNK2	0	LGGM	GRCh37	9	96021492	96021492	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	19	3	.	.	ENST00000297954.4:c.2662G>A	p.Ala888Thr	p.A888T	ENST00000297954	NM_001282394.1	888	Gcc/Acc	0	1	1	UPI0000236D76	0	NA	ENST00000297954		ENSG00000165238	14542		22	1.1		HGNC	p.A888T		WNK2		SNV							ENST00000297954	protein_coding	getma.org/?cm=var&var=hg19,9,96021492,G,A&fts=all		hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF10,Low_complexity_(Seg):seg		A/T		A	low	2662/7138		getma.org/?cm=msa&ty=f&p=WNK2_HUMAN&rb=712&re=911&var=A888T					YES	WNK2,missense_variant,p.Ala884Thr,ENST00000432730,;WNK2,missense_variant,p.Ala888Thr,ENST00000297954,NM_001282394.1;WNK2,missense_variant,p.Ala500Thr,ENST00000349097,;WNK2,missense_variant,p.Ala888Thr,ENST00000395477,NM_006648.3;WNK2,missense_variant,p.Ala492Thr,ENST00000411624,;WNK2,missense_variant,p.Ala500Thr,ENST00000427277,;WNK2,5_prime_UTR_variant,,ENST00000356055,;WNK2,3_prime_UTR_variant,,ENST00000395475,;WNK2,upstream_gene_variant,,ENST00000448251,;WNK2,downstream_gene_variant,,ENST00000448039,;WNK2,non_coding_transcript_exon_variant,,ENST00000464625,;WNK2,upstream_gene_variant,,ENST00000478583,;							MODERATE	2662/6894	A888T	WNK2_HUMAN			Transcript		possibly_damaging(0.807)	.	ENSP00000297954					1	
IL31	0	LGGM	GRCh37	12	122657006	122657006	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	39	3	.	.	ENST00000377035.1:c.448C>T	p.Leu150Phe	p.L150F	ENST00000377035	NM_001014336.1	150	Ctc/Ttc	0	1	1	UPI00003BF6FE	0	NA	ENST00000377035		ENSG00000204671	19372		42	0.345		HGNC	p.L150F		IL31		SNV							ENST00000377035	protein_coding	getma.org/?cm=var&var=hg19,12,122657006,G,A&fts=all		Pfam_domain:PF15209		L/F		A	neutral	475/904		getma.org/?cm=msa&ty=f&p=IL31_HUMAN&rb=1&re=163&var=L150F	tolerated(0.49)				YES	IL31,missense_variant,p.Leu150Phe,ENST00000377035,NM_001014336.1;LRRC43,intron_variant,,ENST00000537729,;							MODERATE	448/495	L150F	IL31_HUMAN			Transcript		possibly_damaging(0.813)	.	ENSP00000366234		CCDS31919.1			1	
PPAN-P2RY11	0	LGGM	GRCh37	19	10221411	10221411	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	11	3	.	.	ENST00000393796.4:c.1070G>T	p.Gly357Val	p.G357V	ENST00000393796		357	gGg/gTg	0	1		UPI000016A418	0	NA	ENST00000393796		ENSG00000243207	33526		14	1.495		HGNC	p.G357V		PPAN-P2RY11		SNV							ENST00000253107	protein_coding	getma.org/?cm=var&var=hg19,19,10221411,G,T&fts=all		hmmpanther:PTHR12661,hmmpanther:PTHR12661:SF5		G/V		T	low	1070/2385		getma.org/?cm=msa&ty=f&p=SSF1_HUMAN&rb=287&re=473&var=G357V	deleterious(0.02)				YES	PPAN-P2RY11,missense_variant,p.Gly357Val,ENST00000428358,NM_001198690.1,NM_001040664.2;PPAN,missense_variant,p.Gly357Val,ENST00000556468,;PPAN-P2RY11,missense_variant,p.Gly357Val,ENST00000393796,;PPAN,missense_variant,p.Gly357Val,ENST00000253107,NM_020230.5;PPAN,missense_variant,p.Gly304Val,ENST00000393793,;PPAN,missense_variant,p.Gly117Val,ENST00000444703,;P2RY11,upstream_gene_variant,,ENST00000321826,NM_002566.4;EIF3G,downstream_gene_variant,,ENST00000253108,NM_003755.3;EIF3G,downstream_gene_variant,,ENST00000589454,;PPAN,downstream_gene_variant,,ENST00000446223,;PPAN,downstream_gene_variant,,ENST00000430370,;EIF3G,downstream_gene_variant,,ENST00000593054,;SNORD105,downstream_gene_variant,,ENST00000386910,NR_004381.1;SNORD105B,downstream_gene_variant,,ENST00000458770,NR_003688.1;P2RY11,upstream_gene_variant,,ENST00000471843,;PPAN,non_coding_transcript_exon_variant,,ENST00000486482,;PPAN,non_coding_transcript_exon_variant,,ENST00000468881,;EIF3G,downstream_gene_variant,,ENST00000590158,;PPAN,downstream_gene_variant,,ENST00000466025,;							MODERATE	1070/2385	G357V				Transcript		probably_damaging(0.932)	.	ENSP00000377385		CCDS42498.1			1	
TRAPPC11	0	LGGM	GRCh37	4	184598688	184598688	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	46	3	.	.	ENST00000334690.6:c.812C>A	p.Ala271Glu	p.A271E	ENST00000334690	NM_021942.5	271	gCa/gAa	0	1	1	UPI000020B774	0	NA	ENST00000334690		ENSG00000168538	25751		49	2.725		HGNC	p.A271E		TRAPPC11		SNV			1				ENST00000357207	protein_coding	getma.org/?cm=var&var=hg19,4,184598688,C,A&fts=all		Pfam_domain:PF11817,hmmpanther:PTHR14374		A/E		A	medium	1014/4552		getma.org/?cm=msa&ty=f&p=TPC11_HUMAN&rb=201&re=400&var=A271E	deleterious(0)				YES	TRAPPC11,missense_variant,p.Ala271Glu,ENST00000334690,NM_021942.5;TRAPPC11,missense_variant,p.Ala271Glu,ENST00000357207,NM_199053.2;RNU6-335P,upstream_gene_variant,,ENST00000364563,;TRAPPC11,non_coding_transcript_exon_variant,,ENST00000511409,;TRAPPC11,intron_variant,,ENST00000505676,;TRAPPC11,downstream_gene_variant,,ENST00000509857,;TRAPPC11,downstream_gene_variant,,ENST00000513600,;							MODERATE	812/3402	A271E	TPC11_HUMAN			Transcript		possibly_damaging(0.849)	.	ENSP00000335371		CCDS34112.1			1	
PAX8	0	LGGM	GRCh37	2	113993058	113993058	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	8	3	.	.	ENST00000429538.3:c.1000C>T	p.Gln334Ter	p.Q334*	ENST00000429538	NM_003466.3	334	Caa/Taa	0	1		UPI0000161BD3	0		ENST00000263334		ENSG00000125618	8622		11			HGNC	p.Q334X		PAX8		SNV			1				ENST00000429538	protein_coding			hmmpanther:PTHR24329:SF10,hmmpanther:PTHR24329		S		A		921/1197								PAX8,stop_gained,p.Gln334Ter,ENST00000429538,NM_003466.3;PAX8,synonymous_variant,p.=,ENST00000348715,NM_013952.3;PAX8,synonymous_variant,p.=,ENST00000263334,;PAX8,intron_variant,,ENST00000263335,NM_013953.3;PAX8,intron_variant,,ENST00000397647,NM_013992.3;PAX8,intron_variant,,ENST00000468980,;PAX8,upstream_gene_variant,,ENST00000465084,;PAX8-AS1,intron_variant,,ENST00000456685,;PAX8-AS1,upstream_gene_variant,,ENST00000422956,;PAX8-AS1,upstream_gene_variant,,ENST00000436293,;PAX8-AS1,upstream_gene_variant,,ENST00000445745,;PAX8-AS1,upstream_gene_variant,,ENST00000333145,;PAX8-AS1,upstream_gene_variant,,ENST00000437551,;PAX8-AS1,upstream_gene_variant,,ENST00000451179,;PAX8-AS1,upstream_gene_variant,,ENST00000431844,;PAX8-AS1,upstream_gene_variant,,ENST00000553869,;PAX8-AS1,upstream_gene_variant,,ENST00000556070,;PAX8,3_prime_UTR_variant,,ENST00000497038,;PAX8,non_coding_transcript_exon_variant,,ENST00000485840,;PAX8,non_coding_transcript_exon_variant,,ENST00000554352,;PAX8-AS1,upstream_gene_variant,,ENST00000555766,;							LOW	921/1197		PAX8_HUMAN			Transcript			.	ENSP00000263334		CCDS46399.1			1	
GBP4	0	LGGM	GRCh37	1	89652208	89652208	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	20	3	.	.	ENST00000355754.6:c.1515G>T	p.Ala505=	p.A505=	ENST00000355754	NM_052941.4	505	gcG/gcT	0	1	1	UPI000013E1A4	0		ENST00000355754		ENSG00000162654	20480		23			HGNC	p.A505A		GBP4		SNV							ENST00000355754	protein_coding			Superfamily_domains:0037397,Gene3D:1f5nA01,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02841,hmmpanther:PTHR10751,hmmpanther:PTHR10751:SF17,Low_complexity_(Seg):seg		A		A		1613/6127				B4E2F1_HUMAN			YES	GBP4,splice_region_variant,p.=,ENST00000355754,NM_052941.4;GBP4,non_coding_transcript_exon_variant,,ENST00000481397,;GBP4,upstream_gene_variant,,ENST00000471938,;							LOW	1515/1923		GBP4_HUMAN			Transcript			.	ENSP00000359490		CCDS721.1			1	
DCHS1	0	LGGM	GRCh37	11	6647276	6647276	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	12	4	.	.	ENST00000299441.3:c.6606T>A	p.Ser2202=	p.S2202=	ENST00000299441	NM_003737.2	2202	tcT/tcA	0	1	1	UPI00001313B6	0		ENST00000299441		ENSG00000166341	13681		16			HGNC	p.S2202S		DCHS1		SNV			1				ENST00000299441	protein_coding			Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24027:SF294,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		S		T		7018/10763							YES	DCHS1,synonymous_variant,p.=,ENST00000299441,NM_003737.2;RP11-732A19.5,downstream_gene_variant,,ENST00000526456,;RP11-732A19.6,upstream_gene_variant,,ENST00000526633,;							LOW	6606/9897		PCD16_HUMAN			Transcript			.	ENSP00000299441		CCDS7771.1			1	
ABCA9	0	LGGM	GRCh37	17	67003941	67003941	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	77	4	.	.	ENST00000340001.4:c.3394G>T	p.Gly1132Trp	p.G1132W	ENST00000340001	NM_080283.3	1132	Ggg/Tgg	0	1	1	UPI00000747B1	0	NA	ENST00000340001		ENSG00000154258	39		81	1.745		HGNC	p.G1132W		ABCA9		SNV							ENST00000340001	protein_coding	getma.org/?cm=var&var=hg19,17,67003941,C,A&fts=all		Pfam_domain:PF12698,hmmpanther:PTHR19229:SF11,hmmpanther:PTHR19229		G/W		A	low	3606/6514		getma.org/?cm=msa&ty=f&p=ABCA9_HUMAN&rb=917&re=1220&var=G1132W	deleterious(0.04)	K7EJJ0_HUMAN			YES	ABCA9,missense_variant,p.Gly1132Trp,ENST00000340001,NM_080283.3;ABCA9,missense_variant,p.Gly1132Trp,ENST00000370732,;ABCA9,intron_variant,,ENST00000453985,;ABCA9-AS1,intron_variant,,ENST00000458677,;ABCA9,downstream_gene_variant,,ENST00000492580,;							MODERATE	3394/4875	G1132W	ABCA9_HUMAN			Transcript		benign(0.337)	.	ENSP00000342216		CCDS11681.1			1	
LMNA	0	LGGM	GRCh37	1	156100472	156100472	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	24	4	.	.	ENST00000368300.4:c.421C>A	p.Leu141Met	p.L141M	ENST00000368300	NM_170707.3	141	Ctg/Atg	0	1	1	UPI000012E20D	0	NA	ENST00000368300		ENSG00000160789	6636		28	3.025		HGNC	p.L58M		LMNA		SNV			1				ENST00000504687	protein_coding	getma.org/?cm=var&var=hg19,1,156100472,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF158,hmmpanther:PTHR23239,Pfam_domain:PF00038,Superfamily_domains:SSF90257		L/M		A	medium	633/3190		getma.org/?cm=msa&ty=f&p=LMNA_HUMAN&rb=30&re=386&var=L141M	deleterious(0.01)	Q5I6Y5_HUMAN			YES	LMNA,missense_variant,p.Leu141Met,ENST00000368300,NM_170707.3;LMNA,missense_variant,p.Leu141Met,ENST00000347559,NM_170708.3;LMNA,missense_variant,p.Leu141Met,ENST00000368301,NM_001282625.1;LMNA,missense_variant,p.Leu141Met,ENST00000368299,NM_001282626.1;LMNA,missense_variant,p.Leu141Met,ENST00000361308,NM_005572.3;LMNA,missense_variant,p.Leu42Met,ENST00000473598,;LMNA,missense_variant,p.Leu29Met,ENST00000448611,NM_001257374.1;LMNA,missense_variant,p.Leu60Met,ENST00000368297,NM_001282624.1;LMNA,missense_variant,p.Leu60Met,ENST00000392353,;LMNA,missense_variant,p.Leu58Met,ENST00000504687,;LMNA,non_coding_transcript_exon_variant,,ENST00000469565,;LMNA,non_coding_transcript_exon_variant,,ENST00000502751,;LMNA,non_coding_transcript_exon_variant,,ENST00000470199,;LMNA,non_coding_transcript_exon_variant,,ENST00000502357,;LMNA,upstream_gene_variant,,ENST00000496738,;LMNA,3_prime_UTR_variant,,ENST00000515459,;LMNA,upstream_gene_variant,,ENST00000368298,;LMNA,upstream_gene_variant,,ENST00000515824,;							MODERATE	421/1995	L141M	LMNA_HUMAN			Transcript		probably_damaging(0.956)	.	ENSP00000357283		CCDS1129.1			1	
FAM131C	0	LGGM	GRCh37	1	16390043	16390043	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	5	4	.	.	ENST00000375662.4:c.111C>T	p.Thr37=	p.T37=	ENST00000375662	NM_182623.2	37	acC/acT	0	1	1	UPI000022B016	0		ENST00000375662		ENSG00000185519	26717		9			HGNC	p.T37T	rs376630111	FAM131C	6.07E-05	SNV	A:0						ENST00000375662	protein_coding			hmmpanther:PTHR15736,hmmpanther:PTHR15736:SF2		T	A:0.0001	A		295/1695							YES	FAM131C,synonymous_variant,p.=,ENST00000375662,NM_182623.2;FAM131C,intron_variant,,ENST00000494078,;							LOW	111/843		F131C_HUMAN			Transcript			.	ENSP00000364814	8.26E-06	CCDS41270.1			1	
C1orf159	0	LGGM	GRCh37	1	1025784	1025784	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	10	4	.	.	ENST00000421241.2:c.97G>T	p.Asp33Tyr	p.D33Y	ENST00000421241	NM_017891.4	33	Gat/Tat	0	1		UPI000013EF85	0	NA	ENST00000379339		ENSG00000131591	26062		14	2.045		HGNC	p.D33Y		C1orf159		SNV							ENST00000434641	protein_coding	getma.org/?cm=var&var=hg19,1,1025784,C,A&fts=all		Pfam_domain:PF14946,hmmpanther:PTHR16247		D/Y		A	medium	416/2429		getma.org/?cm=msa&ty=f&p=CA159_HUMAN&rb=1&re=200&var=D69Y	deleterious(0)					C1orf159,missense_variant,p.Asp69Tyr,ENST00000448924,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000294576,;C1orf159,missense_variant,p.Asp69Tyr,ENST00000379339,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000379320,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000421241,NM_017891.4;C1orf159,missense_variant,p.Asp33Tyr,ENST00000379319,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000437760,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000434641,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000462097,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000475119,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000442117,;C1orf159,downstream_gene_variant,,ENST00000480643,;C1orf159,downstream_gene_variant,,ENST00000427787,;C1orf159,non_coding_transcript_exon_variant,,ENST00000482816,;C1orf159,missense_variant,p.Gly65Val,ENST00000467751,;C1orf159,missense_variant,p.Asp33Tyr,ENST00000379325,;C1orf159,3_prime_UTR_variant,,ENST00000477196,;C1orf159,non_coding_transcript_exon_variant,,ENST00000465822,;C1orf159,non_coding_transcript_exon_variant,,ENST00000473600,;C1orf159,upstream_gene_variant,,ENST00000487177,;C1orf159,downstream_gene_variant,,ENST00000472741,;							MODERATE	205/1143	D69Y	CA159_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000368644					1	
ARHGEF38	0	LGGM	GRCh37	4	106580405	106580405	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	10	4	.	.	ENST00000420470.2:c.1428G>C	p.Glu476Asp	p.E476D	ENST00000420470	NM_001242729.1	476	gaG/gaC	0	1	1	UPI0001D3B6A5	0	getma.org/pdb.php?prot=C9JIB4_HUMAN&from=316&to=515&var=E476D	ENST00000420470		ENSG00000236699	25968		14	2.9		HGNC	p.E476D		ARHGEF38		SNV							ENST00000420470	protein_coding	getma.org/?cm=var&var=hg19,4,106580405,G,C&fts=all		Gene3D:1.20.1270.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF18,SMART_domains:SM00721,Superfamily_domains:SSF103657		E/D		C	medium	1572/5454		getma.org/?cm=msa&ty=f&p=C9JIB4_HUMAN&rb=316&re=515&var=E476D	deleterious(0)				YES	ARHGEF38,missense_variant,p.Glu476Asp,ENST00000420470,NM_001242729.1;ARHGEF38,non_coding_transcript_exon_variant,,ENST00000508036,;							MODERATE	1428/2334	E476D	ARH38_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000416125		CCDS56338.1			1	
GLT6D1	0	LGGM	GRCh37	9	138516207	138516207	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	20	5	.	.	ENST00000371763.1:c.567G>T	p.Pro189=	p.P189=	ENST00000371763	NM_182974.2	189	ccG/ccT	0	1	1	UPI0000246F68	0		ENST00000371763		ENSG00000204007	23671		25			HGNC	p.P189P		GLT6D1		SNV							ENST00000371763	protein_coding			Superfamily_domains:SSF53448,Gene3D:3.90.550.10,Pfam_domain:PF03414,hmmpanther:PTHR10462,hmmpanther:PTHR10462:SF27		P		A		821/1526							YES	GLT6D1,synonymous_variant,p.=,ENST00000371763,NM_182974.2;							LOW	567/831		GL6D1_HUMAN			Transcript			.	ENSP00000360829		CCDS43900.1			1	
UPP2	0	LGGM	GRCh37	2	158851747	158851747	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	15	5	.	.	ENST00000605860.1:c.37G>T	p.Glu13Ter	p.E13*	ENST00000605860		13	Gaa/Taa	0	1	1	UPI0000EE2DE7	0		ENST00000605860		ENSG00000007001	23061		20			HGNC	p.E13X		UPP2		SNV							ENST00000409859	protein_coding					E/*		T		83/2435							YES	UPP2,stop_gained,p.Glu13Ter,ENST00000605860,;UPP2,stop_gained,p.Glu13Ter,ENST00000409859,NM_001135098.1;							HIGH	37/1125		UPP2_HUMAN			Transcript			.	ENSP00000474090		CCDS46435.1			1	
XBP1	0	LGGM	GRCh37	22	29195108	29195108	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	24	5	.	.	ENST00000216037.6:c.261C>T	p.Ala87=	p.A87=	ENST00000216037	NM_005080.3	87	gcC/gcT	0	1	1	UPI000006FC05	0		ENST00000216037		ENSG00000100219	12801		29			HGNC	p.A87A		XBP1		SNV			1				ENST00000216037	protein_coding			Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50217,hmmpanther:PTHR13301,PROSITE_patterns:PS00036,Pfam_domain:PF07716,Gene3D:1.20.5.170,SMART_domains:SM00338,Superfamily_domains:SSF57959		A		A		334/1850							YES	XBP1,synonymous_variant,p.=,ENST00000216037,NM_005080.3,NM_001079539.1;XBP1,synonymous_variant,p.=,ENST00000403532,;XBP1,synonymous_variant,p.=,ENST00000405219,;XBP1,synonymous_variant,p.=,ENST00000344347,;CTA-292E10.6,upstream_gene_variant,,ENST00000585003,;CTA-292E10.6,upstream_gene_variant,,ENST00000458080,;CTA-292E10.6,upstream_gene_variant,,ENST00000451486,;CTA-292E10.6,upstream_gene_variant,,ENST00000418292,;XBP1,non_coding_transcript_exon_variant,,ENST00000482720,;XBP1,upstream_gene_variant,,ENST00000484256,;							LOW	261/786		XBP1_HUMAN			Transcript			.	ENSP00000216037		CCDS13847.1			1	
ABCB6	0	LGGM	GRCh37	2	220079202	220079202	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	33	5	.	.	ENST00000265316.3:c.1295C>G	p.Thr432Ser	p.T432S	ENST00000265316	NM_005689.2	432	aCt/aGt	0	1	1	UPI000004C4BA	0	NA	ENST00000265316		ENSG00000115657	47		38	2.775		HGNC	p.T432S		ABCB6		SNV			1				ENST00000265316	protein_coding	getma.org/?cm=var&var=hg19,2,220079202,G,C&fts=all		PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123		T/S		C	medium	1612/3016		getma.org/?cm=msa&ty=f&p=ABCB6_HUMAN&rb=265&re=544&var=T432S	deleterious(0.04)	U3THN0_HUMAN,H7C1R6_HUMAN			YES	ABCB6,missense_variant,p.Thr432Ser,ENST00000265316,NM_005689.2;ABCB6,missense_variant,p.Thr386Ser,ENST00000439002,;ABCB6,missense_variant,p.Thr280Ser,ENST00000295750,;ATG9A,downstream_gene_variant,,ENST00000409618,;ATG9A,downstream_gene_variant,,ENST00000396761,NM_024085.3;ZFAND2B,downstream_gene_variant,,ENST00000409594,;ZFAND2B,downstream_gene_variant,,ENST00000409097,;ZFAND2B,downstream_gene_variant,,ENST00000289528,NM_001270999.1,NM_138802.2,NM_001270998.1;ZFAND2B,downstream_gene_variant,,ENST00000425849,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,3_prime_UTR_variant,,ENST00000448398,;ABCB6,3_prime_UTR_variant,,ENST00000417678,;ABCB6,non_coding_transcript_exon_variant,,ENST00000497882,;ABCB6,non_coding_transcript_exon_variant,,ENST00000496984,;ABCB6,non_coding_transcript_exon_variant,,ENST00000492953,;ABCB6,non_coding_transcript_exon_variant,,ENST00000494639,;ATG9A,downstream_gene_variant,,ENST00000409033,;ZFAND2B,downstream_gene_variant,,ENST00000464902,;ZFAND2B,downstream_gene_variant,,ENST00000475533,;ABCB6,upstream_gene_variant,,ENST00000485773,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,upstream_gene_variant,,ENST00000487380,;ABCB6,upstream_gene_variant,,ENST00000443805,;ABCB6,downstream_gene_variant,,ENST00000452545,;							MODERATE	1295/2529	T432S	ABCB6_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000265316		CCDS2436.1			1	
DDX51	0	LGGM	GRCh37	12	132625400	132625400	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	49	5	.	.	ENST00000397333.3:c.1416G>C	p.Lys472Asn	p.K472N	ENST00000397333	NM_175066.3	472	aaG/aaC	0	1	1	UPI000049DD95	0	NA	ENST00000397333		ENSG00000185163	20082		54	1.995		HGNC	p.K472N		DDX51		SNV							ENST00000397333	protein_coding	getma.org/?cm=var&var=hg19,12,132625400,C,G&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF68,Superfamily_domains:SSF52540		K/N		G	medium	1455/4718		getma.org/?cm=msa&ty=f&p=DDX51_HUMAN&rb=442&re=524&var=K472N	deleterious(0.04)				YES	DDX51,missense_variant,p.Lys472Asn,ENST00000397333,NM_175066.3;NOC4L,upstream_gene_variant,,ENST00000330579,NM_024078.1;NOC4L,upstream_gene_variant,,ENST00000541954,;DDX51,non_coding_transcript_exon_variant,,ENST00000329073,;DDX51,non_coding_transcript_exon_variant,,ENST00000545991,;DDX51,upstream_gene_variant,,ENST00000462829,;DDX51,upstream_gene_variant,,ENST00000541489,;DDX51,downstream_gene_variant,,ENST00000546058,;							MODERATE	1416/2001	K472N	DDX51_HUMAN			Transcript		benign(0.41)	.	ENSP00000380495		CCDS41865.1			1	
ITPRIPL2	0	LGGM	GRCh37	16	19126463	19126463	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	51	6	.	.	ENST00000381440.3:c.680G>C	p.Arg227Pro	p.R227P	ENST00000381440	NM_001034841.3	227	cGg/cCg	0	1	1	UPI000023760C	0	NA	ENST00000381440		ENSG00000205730	27257		57	0.805		HGNC	p.R227P		ITPRIPL2		SNV							ENST00000381440	protein_coding	getma.org/?cm=var&var=hg19,16,19126463,G,C&fts=all		hmmpanther:PTHR10656,hmmpanther:PTHR10656:SF9		R/P		C	low	1210/7693		getma.org/?cm=msa&ty=f&p=IPIL2_HUMAN&rb=201&re=330&var=R227P	deleterious(0.01)				YES	ITPRIPL2,missense_variant,p.Arg227Pro,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,;							MODERATE	680/1608	R227P	IPIL2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000370849		CCDS32395.1			1	
RHOD	0	LGGM	GRCh37	11	66833449	66833449	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	2	6	.	.	ENST00000308831.2:c.215C>G	p.Thr72Arg	p.T72R	ENST00000308831	NM_014578.3	72	aCa/aGa	0	1	1	UPI000013EDC5	0	getma.org/pdb.php?prot=RHOD_HUMAN&from=19&to=192&var=T72R	ENST00000308831		ENSG00000173156	670		8	4.755		HGNC	p.T72R		RHOD		SNV							ENST00000308831	protein_coding	getma.org/?cm=var&var=hg19,11,66833449,C,G&fts=all		PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF98,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00175,SMART_domains:SM00176,SMART_domains:SM00173,Superfamily_domains:SSF52540,Prints_domain:PR00449		T/R		G	high	300/1129		getma.org/?cm=msa&ty=f&p=RHOD_HUMAN&rb=19&re=192&var=T72R	deleterious(0)				YES	RHOD,missense_variant,p.Thr72Arg,ENST00000308831,NM_014578.3;RHOD,missense_variant,p.Thr72Arg,ENST00000533360,;RHOD,intron_variant,,ENST00000532559,;							MODERATE	215/633	T72R	RHOD_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000308576		CCDS8155.1			1	
SPAG11B	0	LGGM	GRCh37	8	7320339	7320339	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	31	6	.	.	ENST00000398462.2:c.104C>T	p.Ala35Val	p.A35V	ENST00000398462	NM_058201.2	35	gCt/gTt	0	1		UPI000013E418	0	NA	ENST00000297498		ENSG00000164871	14534		37	1.1		HGNC	p.A35V	rs748579906	SPAG11B		SNV							ENST00000317900	protein_coding	getma.org/?cm=var&var=hg19,8,7320339,G,A&fts=all		hmmpanther:PTHR14081,hmmpanther:PTHR14081:SF1,Pfam_domain:PF05324		A/V		A	low	271/795	3.02E-05	getma.org/?cm=msa&ty=f&p=SG11A_HUMAN&rb=2&re=74&var=A35V	tolerated_low_confidence(0.13)					SPAG11B,missense_variant,p.Ala35Val,ENST00000317900,NM_058203.2;SPAG11B,missense_variant,p.Ala35Val,ENST00000297498,NM_016512.3;SPAG11B,missense_variant,p.Ala35Val,ENST00000398462,NM_058201.2;SPAG11B,missense_variant,p.Ala35Val,ENST00000359758,NM_058200.2;SPAG11B,missense_variant,p.Ala35Val,ENST00000361111,NM_058202.2;SPAG11B,missense_variant,p.Ala18Val,ENST00000528943,;AC130360.1,downstream_gene_variant,,ENST00000401375,;SPAG11B,missense_variant,p.Ala14Val,ENST00000528767,;							MODERATE	104/312	A35V	SG11B_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000297498	2.47E-05	CCDS5966.1			1	
VWF	0	LGGM	GRCh37	12	6058260	6058260	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	10	6	.	.	ENST00000261405.5:c.8363G>C	p.Cys2788Ser	p.C2788S	ENST00000261405	NM_000552.3	2788	tGc/tCc	0	1	1	UPI00001AE7EE	0	NA	ENST00000261405		ENSG00000110799	12726		16	3.385		HGNC	p.C2788S		VWF		SNV			1				ENST00000261405	protein_coding	getma.org/?cm=var&var=hg19,12,6058260,C,G&fts=all		PIRSF_domain:PIRSF002495,PROSITE_patterns:PS01185,PROSITE_profiles:PS01225,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF259,SMART_domains:SM00041		C/S		G	medium	8618/8838		getma.org/?cm=msa&ty=f&p=VWF_HUMAN&rb=2724&re=2812&var=C2788S	deleterious(0)	H2DLA2_HUMAN			YES	VWF,missense_variant,p.Cys2788Ser,ENST00000261405,NM_000552.3;ANO2,upstream_gene_variant,,ENST00000356134,;ANO2,upstream_gene_variant,,ENST00000327087,NM_001278596.1,NM_001278597.1;ANO2,upstream_gene_variant,,ENST00000546188,;							MODERATE	8363/8442	C2788S	VWF_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000261405		CCDS8539.1			1	
EVX1	0	LGGM	GRCh37	7	27283028	27283028	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	9	6	.	.	ENST00000496902.4:c.379T>A	p.Cys127Ser	p.C127S	ENST00000496902		127	Tgc/Agc	0	1	1	UPI000012A2AD	0	NA	ENST00000496902		ENSG00000106038	3506		15	2.175		HGNC	p.C127S		EVX1		SNV							ENST00000496902	protein_coding	getma.org/?cm=var&var=hg19,7,27283028,T,A&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF246		C/S		A	medium	865/2712		getma.org/?cm=msa&ty=f&p=EVX1_HUMAN&rb=1&re=160&var=C127S	deleterious(0.04)	B4DQJ0_HUMAN			YES	EVX1,missense_variant,p.Cys127Ser,ENST00000496902,;EVX1,splice_region_variant,,ENST00000535619,;EVX1,splice_region_variant,,ENST00000580535,;EVX1,splice_region_variant,,ENST00000222761,NM_001989.3;RP1-170O19.17,upstream_gene_variant,,ENST00000523608,;EVX1-AS,intron_variant,,ENST00000519218,;EVX1-AS,intron_variant,,ENST00000517726,;EVX1-AS,upstream_gene_variant,,ENST00000519050,;EVX1,upstream_gene_variant,,ENST00000518886,;							MODERATE	379/1224	C127S	EVX1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000419266		CCDS5413.1			1	
TP53	0	LGGM	GRCh37	17	7577569	7577569	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	1	6	.	.	ENST00000269305.4:c.712T>C	p.Cys238Arg	p.C238R	ENST00000269305	NM_001126112.2	238	Tgt/Cgt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=C238R	ENST00000269305		ENSG00000141510	11998		7	3.365		HGNC	p.C238R	TP53_g.13349T>C,COSM44321,COSM1386628,COSM1386629,COSM3937609,COSM3937608,COSM1386630	TP53		SNV			1			0,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577569,A,G&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		C/R		G	medium	902/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=C238R	deleterious(0)	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			YES	TP53,missense_variant,p.Cys238Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Cys238Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Cys238Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Cys238Arg,ENST00000445888,;TP53,missense_variant,p.Cys238Arg,ENST00000359597,;TP53,missense_variant,p.Cys238Arg,ENST00000413465,;TP53,missense_variant,p.Cys106Arg,ENST00000509690,;TP53,missense_variant,p.Cys145Arg,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,;					0,1,1,1,1,1,1		MODERATE	712/1182	C238R	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
ZNF513	0	LGGM	GRCh37	2	27601064	27601064	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	19	6	.	.	ENST00000323703.6:c.974A>C	p.Glu325Ala	p.E325A	ENST00000323703	NM_144631.5	325	gAg/gCg	0	1	1	UPI00000437BA	0	NA	ENST00000323703		ENSG00000163795	26498		25	0.345		HGNC	p.E325A		ZNF513		SNV			1				ENST00000323703	protein_coding	getma.org/?cm=var&var=hg19,2,27601064,T,G&fts=all		hmmpanther:PTHR24382:SF3,hmmpanther:PTHR24382		E/A		G	neutral	1173/2139		getma.org/?cm=msa&ty=f&p=ZN513_HUMAN&rb=218&re=373&var=E325A	tolerated(0.1)	C9JT52_HUMAN			YES	ZNF513,missense_variant,p.Glu325Ala,ENST00000323703,NM_144631.5;ZNF513,missense_variant,p.Glu263Ala,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,intron_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,,ENST00000493711,;SNX17,downstream_gene_variant,,ENST00000464279,;							MODERATE	974/1626	E325A	ZN513_HUMAN			Transcript		benign(0.292)	.	ENSP00000318373		CCDS1751.1			1	
FAM124B	0	LGGM	GRCh37	2	225266293	225266293	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	40	7	.	.	ENST00000409685.3:c.193C>A	p.Pro65Thr	p.P65T	ENST00000409685	NM_001122779.1	65	Cca/Aca	0	1	1	UPI00002096DA	0	NA	ENST00000409685		ENSG00000124019	26224		47	2.65		HGNC	p.P65T		FAM124B		SNV							ENST00000409685	protein_coding	getma.org/?cm=var&var=hg19,2,225266293,G,T&fts=all		hmmpanther:PTHR14715:SF2,hmmpanther:PTHR14715,Pfam_domain:PF15067		P/T		T	medium	459/2509		getma.org/?cm=msa&ty=f&p=F124B_HUMAN&rb=1&re=251&var=P65T	deleterious(0)				YES	FAM124B,missense_variant,p.Pro65Thr,ENST00000389874,NM_024785.2;FAM124B,missense_variant,p.Pro65Thr,ENST00000409685,NM_001122779.1;FAM124B,missense_variant,p.Pro65Thr,ENST00000243806,;							MODERATE	193/1368	P65T	F124B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386895		CCDS46527.1			1	
ADRBK1	0	LGGM	GRCh37	11	67051768	67051768	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	37	7	.	.	ENST00000308595.5:c.1578C>T	p.Phe526=	p.F526=	ENST00000308595	NM_001619.3	526	ttC/ttT	0	1	1	UPI0000001C68	0		ENST00000308595		ENSG00000173020	289		44			HGNC	p.F526F	rs757334023,COSM1298490	ADRBK1		SNV						0,1	ENST00000308595	protein_coding			Superfamily_domains:SSF56112,SMART_domains:SM00133,hmmpanther:PTHR24355:SF22,hmmpanther:PTHR24355		F		T		1868/3466	4.54E-05						YES	ADRBK1,synonymous_variant,p.=,ENST00000308595,NM_001619.3;ADRBK1,intron_variant,,ENST00000526285,;ANKRD13D,upstream_gene_variant,,ENST00000447274,;ANKRD13D,upstream_gene_variant,,ENST00000511455,NM_207354.2;ADRBK1,non_coding_transcript_exon_variant,,ENST00000527176,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000532099,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000524899,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000532611,;ADRBK1,intron_variant,,ENST00000529738,;ADRBK1,downstream_gene_variant,,ENST00000531390,;ADRBK1,downstream_gene_variant,,ENST00000534651,;ADRBK1,downstream_gene_variant,,ENST00000530291,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000416281,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000533077,;ADRBK1,downstream_gene_variant,,ENST00000526572,;ADRBK1,downstream_gene_variant,,ENST00000529815,;	0.000116				0,1		LOW	1578/2070		ARBK1_HUMAN			Transcript			.	ENSP00000312262	3.29E-05	CCDS8156.1			1	
HIST1H2AI	0	LGGM	GRCh37	6	27775992	27775992	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	63	7	.	.	ENST00000358739.3:c.5C>A	p.Ser2Tyr	p.S2Y	ENST00000358739	NM_003509.2	2	tCt/tAt	0	1	1	UPI0000000E01	0		ENST00000358739		ENSG00000196747	4725		70			HGNC	p.S2Y		HIST1H2AI		SNV							ENST00000358739	protein_coding			hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,Low_complexity_(Seg):seg		S/Y		A		94/531			deleterious_low_confidence(0)	A4FTV9_HUMAN,A3KPC7_HUMAN			YES	HIST1H2AI,missense_variant,p.Ser2Tyr,ENST00000358739,NM_003509.2;HIST1H3H,upstream_gene_variant,,ENST00000369163,NM_003536.2;HIST1H2BL,upstream_gene_variant,,ENST00000377401,NM_003519.3;HIST1H4PS1,downstream_gene_variant,,ENST00000406085,;							MODERATE	5/393		H2A1_HUMAN			Transcript		benign(0.184)	.	ENSP00000351589		CCDS4626.1			1	
KDM1B	0	LGGM	GRCh37	6	18197315	18197315	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	49	7	.	.	ENST00000297792.5:c.601C>G	p.Pro201Ala	p.P201A	ENST00000297792		201	Cct/Gct	0	1	1	UPI000023739E	0	NA	ENST00000297792		ENSG00000165097	21577		56	0.895		HGNC	p.P333A		KDM1B		SNV							ENST00000388870	protein_coding	getma.org/?cm=var&var=hg19,6,18197315,C,G&fts=all		hmmpanther:PTHR10742:SF241,hmmpanther:PTHR10742		P/A		G	low	778/3811		getma.org/?cm=msa&ty=f&p=KDM1B_HUMAN&rb=275&re=373&var=P333A	tolerated_low_confidence(0.45)	Q08EI0_HUMAN			YES	KDM1B,missense_variant,p.Pro333Ala,ENST00000388870,;KDM1B,missense_variant,p.Pro201Ala,ENST00000397244,NM_153042.3;KDM1B,missense_variant,p.Pro201Ala,ENST00000297792,;KDM1B,missense_variant,p.Pro150Ala,ENST00000449850,;KDM1B,intron_variant,,ENST00000546309,;							MODERATE	601/1773	P333A	KDM1B_HUMAN			Transcript		unknown(0)	.	ENSP00000297792		CCDS34343.1			1	
TRAF3IP2	0	LGGM	GRCh37	6	111901421	111901421	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	13	7	.	.	ENST00000368761.5:c.1001T>G	p.Phe334Cys	p.F334C	ENST00000368761	NM_001164281.2	334	tTt/tGt	0	1		UPI000013DDEF	0	NA	ENST00000340026		ENSG00000056972	1343		20	0.55		HGNC	p.F334C		TRAF3IP2		SNV			1				ENST00000359831	protein_coding	getma.org/?cm=var&var=hg19,6,111901421,A,C&fts=all				F/C		C	neutral	1623/2785		getma.org/?cm=msa&ty=f&p=CIKS_HUMAN&rb=6&re=396&var=F343C	tolerated(0.11)					TRAF3IP2,missense_variant,p.Phe334Cys,ENST00000368761,NM_001164281.2,NM_147686.3;TRAF3IP2,missense_variant,p.Phe343Cys,ENST00000340026,;TRAF3IP2,missense_variant,p.Phe334Cys,ENST00000359831,;TRAF3IP2,5_prime_UTR_variant,,ENST00000392556,;TRAF3IP2-AS1,intron_variant,,ENST00000532353,;TRAF3IP2-AS1,intron_variant,,ENST00000442928,;TRAF3IP2-AS1,intron_variant,,ENST00000607066,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000438298,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000449449,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000606892,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000456352,;TRAF3IP2-AS1,downstream_gene_variant,,ENST00000440395,;TRAF3IP2,non_coding_transcript_exon_variant,,ENST00000532708,;TRAF3IP2,non_coding_transcript_exon_variant,,ENST00000528599,;							MODERATE	1028/1725	F343C	CIKS_HUMAN			Transcript		benign(0.401)	.	ENSP00000345984					1	
KEL	0	LGGM	GRCh37	7	142640057	142640057	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	17	7	.	.	ENST00000355265.2:c.1846G>T	p.Ala616Ser	p.A616S	ENST00000355265	NM_000420.2	616	Gct/Tct	0	1	1	UPI000000D923	0	getma.org/pdb.php?prot=KELL_HUMAN&from=540&to=731&var=A616S	ENST00000355265		ENSG00000197993	6308		24	0.175		HGNC	p.A616S		KEL		SNV			1				ENST00000355265	protein_coding	getma.org/?cm=var&var=hg19,7,142640057,C,A&fts=all		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF101,Pfam_domain:PF01431,Superfamily_domains:SSF55486		A/S		A	neutral	2321/2812		getma.org/?cm=msa&ty=f&p=KELL_HUMAN&rb=540&re=731&var=A616S	tolerated(0.34)	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			YES	KEL,missense_variant,p.Ala616Ser,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,,ENST00000478969,;KEL,intron_variant,,ENST00000470850,;KEL,downstream_gene_variant,,ENST00000465697,;							MODERATE	1846/2199	A616S	KELL_HUMAN			Transcript		possibly_damaging(0.595)	.	ENSP00000347409		CCDS34766.1			1	
PLEKHA7	0	LGGM	GRCh37	11	16816200	16816200	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	22	7	.	.	ENST00000355661.3:c.2580C>T	p.Ser860=	p.S860=	ENST00000355661		860	agC/agT	0	1	1	UPI0000456498	0		ENST00000355661		ENSG00000166689	27049		29			HGNC	p.S860S		PLEKHA7		SNV							ENST00000531066	protein_coding			hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752,Low_complexity_(Seg):seg		S		A		2591/4980				E9PL74_HUMAN,E9PIK1_HUMAN			YES	PLEKHA7,synonymous_variant,p.=,ENST00000355661,;PLEKHA7,synonymous_variant,p.=,ENST00000448080,NM_175058.4;PLEKHA7,synonymous_variant,p.=,ENST00000531066,;PLEKHA7,synonymous_variant,p.=,ENST00000530489,;PLEKHA7,intron_variant,,ENST00000532079,;PLEKHA7,downstream_gene_variant,,ENST00000525581,;PLEKHA7,upstream_gene_variant,,ENST00000332954,;PLEKHA7,upstream_gene_variant,,ENST00000533901,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525177,;PLEKHA7,upstream_gene_variant,,ENST00000531776,;PLEKHA7,upstream_gene_variant,,ENST00000533251,;							LOW	2580/3366		PKHA7_HUMAN			Transcript			.	ENSP00000347883		CCDS31434.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266097	41266097	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	25	11	.	.	ENST00000349496.5:c.94G>T	p.Asp32Tyr	p.D32Y	ENST00000349496	NM_001904.3	32	Gac/Tac	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=D32Y	ENST00000349496	pathogenic	ENSG00000168036	2514		36	2.46		HGNC	p.D32Y	rs28931588,COSM5661	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266097,G,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		D/Y		T	medium	374/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=D32Y	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Asp32Tyr,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000453024,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000405570,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000450969,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000431914,;CTNNB1,missense_variant,p.Asp32Tyr,ENST00000441708,;CTNNB1,missense_variant,p.Asp25Tyr,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	94/2346	D32Y	CTNB1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000344456		CCDS2694.1			1	19635198
LRP1B	0	LGGM	GRCh37	2	141643794	141643794	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	44	8	.	.	ENST00000389484.3:c.3877C>T	p.Leu1293Phe	p.L1293F	ENST00000389484	NM_018557.2	1293	Ctt/Ttt	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=1132&to=1331&var=L1293F	ENST00000389484		ENSG00000168702	6693		52	3.095		HGNC	p.L438F		LRP1B		SNV							ENST00000434794	protein_coding	getma.org/?cm=var&var=hg19,2,141643794,G,A&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		L/F		A	medium	4849/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=1132&re=1331&var=L1293F		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			YES	LRP1B,missense_variant,p.Leu1293Phe,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Leu438Phe,ENST00000434794,;							MODERATE	3877/13800	L1293F	LRP1B_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000374135		CCDS2182.1			1	
CACNA2D1	0	LGGM	GRCh37	7	81667482	81667482	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	37	8	.	.	ENST00000356860.3:c.949G>T	p.Val317Leu	p.V317L	ENST00000356860	NM_000722.2	317	Gtg/Ttg	0	1		UPI0001B9E74B	0	NA	ENST00000356253		ENSG00000153956	1399		45	0.26		HGNC	p.V317L		CACNA2D1		SNV			1				ENST00000356253	protein_coding	getma.org/?cm=var&var=hg19,7,81667482,C,A&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR10166,hmmpanther:PTHR10166:SF6,SMART_domains:SM00327,Superfamily_domains:SSF53300		V/L		A	neutral	1205/3858		getma.org/?cm=msa&ty=f&p=CA2D1_HUMAN&rb=253&re=425&var=V317L	tolerated(0.22)	Q9UDU5_HUMAN,Q9UDL7_HUMAN,O95026_HUMAN				CACNA2D1,missense_variant,p.Val317Leu,ENST00000356860,NM_000722.2;CACNA2D1,missense_variant,p.Val317Leu,ENST00000356253,;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000492734,;							MODERATE	949/3312	V317L	CA2D1_HUMAN			Transcript		benign(0.006)	.	ENSP00000348589					1	
SLC33A1	0	LGGM	GRCh37	3	155551740	155551740	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	12	9	.	.	ENST00000392845.3:c.1054A>G	p.Met352Val	p.M352V	ENST00000392845		352	Atg/Gtg	0	1		UPI000006E3FD	0	NA	ENST00000359479		ENSG00000169359	95		21	1.405		HGNC	p.M352V	rs749048114	SLC33A1		SNV			1				ENST00000359479	protein_coding	getma.org/?cm=var&var=hg19,3,155551740,T,C&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00901,hmmpanther:PTHR12778:SF3,hmmpanther:PTHR12778		M/V		C	low	1486/2404	1.50E-05	getma.org/?cm=msa&ty=f&p=ACATN_HUMAN&rb=288&re=381&var=M352V	tolerated(0.11)					SLC33A1,missense_variant,p.Met352Val,ENST00000392845,;SLC33A1,missense_variant,p.Met352Val,ENST00000359479,NM_004733.3,NM_001190992.1;SLC33A1,missense_variant,p.Met72Val,ENST00000475842,;SLC33A1,intron_variant,,ENST00000496772,;SLC33A1,missense_variant,p.Asn63Ser,ENST00000468581,;							MODERATE	1054/1650	M352V	ACATN_HUMAN			Transcript		benign(0.011)	.	ENSP00000352456	8.24E-06	CCDS3173.1			1	
EGFR	0	LGGM	GRCh37	7	55268093	55268093	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	37	9	.	.	ENST00000275493.2:c.2933A>C	p.Tyr978Ser	p.Y978S	ENST00000275493	NM_005228.3	978	tAc/tCc	0	1	1	UPI000003E750	0	getma.org/pdb.php?prot=EGFR_HUMAN&from=969&to=1208&var=Y978S	ENST00000275493		ENSG00000146648	3236		46	2.88		HGNC	p.Y933S		EGFR		SNV			1				ENST00000455089	protein_coding	getma.org/?cm=var&var=hg19,7,55268093,A,C&fts=all		Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416:SF91,hmmpanther:PTHR24416,PROSITE_profiles:PS50011		Y/S		C	medium	3110/9821		getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=969&re=1208&var=Y978S	deleterious(0)	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN			YES	EGFR,missense_variant,p.Tyr978Ser,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Tyr925Ser,ENST00000454757,;EGFR,missense_variant,p.Tyr933Ser,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR,non_coding_transcript_exon_variant,,ENST00000485503,;							MODERATE	2933/3633	Y978S	EGFR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000275493		CCDS5514.1			1	
SMAD4	0	LGGM	GRCh37	18	48603083	48603083	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	14	9	.	.	ENST00000342988.3:c.1384G>A	p.Ala462Thr	p.A462T	ENST00000342988	NM_005359.5	462	Gca/Aca	0	1	1	UPI0000053431	0	getma.org/pdb.php?prot=SMAD4_HUMAN&from=317&to=532&var=A462T	ENST00000342988		ENSG00000141646	6770		23	2.79		HGNC	p.A51T		SMAD4		SNV			1				ENST00000593223	protein_coding	getma.org/?cm=var&var=hg19,18,48603083,G,A&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51076,hmmpanther:PTHR13703,hmmpanther:PTHR13703:SF33,Pfam_domain:PF03166,Gene3D:2.60.200.10,SMART_domains:SM00524,Superfamily_domains:SSF49879		A/T		A	medium	1922/8769		getma.org/?cm=msa&ty=f&p=SMAD4_HUMAN&rb=317&re=532&var=A462T	deleterious(0.04)	Q9BYG6_HUMAN,K7ENG8_HUMAN,K7ENG1_HUMAN,K7EL18_HUMAN,K7EL15_HUMAN,K7EIJ2_HUMAN			YES	SMAD4,missense_variant,p.Ala462Thr,ENST00000342988,NM_005359.5;SMAD4,missense_variant,p.Ala462Thr,ENST00000398417,;SMAD4,missense_variant,p.Ala366Thr,ENST00000588745,;SMAD4,missense_variant,p.Ala51Thr,ENST00000593223,;SMAD4,upstream_gene_variant,,ENST00000586253,;SMAD4,3_prime_UTR_variant,,ENST00000592186,;SMAD4,non_coding_transcript_exon_variant,,ENST00000591126,;SMAD4,non_coding_transcript_exon_variant,,ENST00000590499,;							MODERATE	1384/1659	A462T	SMAD4_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000341551		CCDS11950.1			1	
SYCP2L	0	LGGM	GRCh37	6	10912960	10912960	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	45	9	.	.	ENST00000283141.6:c.973G>A	p.Gly325Arg	p.G325R	ENST00000283141	NM_001040274.2	325	Gga/Aga	0	1	1	UPI000022CA18	0	NA	ENST00000283141		ENSG00000153157	21537		54	2.51		HGNC	p.G325R		SYCP2L		SNV							ENST00000283141	protein_coding	getma.org/?cm=var&var=hg19,6,10912960,G,A&fts=all		hmmpanther:PTHR15607:SF14,hmmpanther:PTHR15607		G/R		A	medium	1269/3130		getma.org/?cm=msa&ty=f&p=SYC2L_HUMAN&rb=23&re=413&var=G325R	deleterious(0.02)				YES	SYCP2L,missense_variant,p.Gly325Arg,ENST00000283141,NM_001040274.2;SYCP2L,missense_variant,p.Gly166Arg,ENST00000543878,;SYCP2L,3_prime_UTR_variant,,ENST00000341041,;RP11-637O19.3,3_prime_UTR_variant,,ENST00000480294,;SYCP2L,3_prime_UTR_variant,,ENST00000487561,;							MODERATE	973/2439	G325R	SYC2L_HUMAN			Transcript		possibly_damaging(0.554)	.	ENSP00000283141		CCDS43423.1			1	
CACNA1I	0	LGGM	GRCh37	22	40057234	40057234	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	16	9	.	.	ENST00000402142.3:c.2820G>T	p.Pro940=	p.P940=	ENST00000402142	NM_021096.3	940	ccG/ccT	0	1	1	UPI000012727D	0		ENST00000402142		ENSG00000100346	1396		25			HGNC	p.P905P		CACNA1I		SNV							ENST00000407673	protein_coding			hmmpanther:PTHR10037:SF202,hmmpanther:PTHR10037		P		T		2820/10004							YES	CACNA1I,synonymous_variant,p.=,ENST00000336649,;CACNA1I,synonymous_variant,p.=,ENST00000402142,NM_021096.3;CACNA1I,synonymous_variant,p.=,ENST00000400164,;CACNA1I,synonymous_variant,p.=,ENST00000404898,NM_001003406.1;CACNA1I,synonymous_variant,p.=,ENST00000401624,;CACNA1I,synonymous_variant,p.=,ENST00000407673,;							LOW	2820/6672		CAC1I_HUMAN			Transcript			.	ENSP00000385019		CCDS46710.1			1	
CDC42BPG	0	LGGM	GRCh37	11	64606659	64606659	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	23	9	.	.	ENST00000342711.5:c.722A>G	p.Glu241Gly	p.E241G	ENST00000342711	NM_017525.2	241	gAg/gGg	0	1	1	UPI000047C9E2	0	getma.org/pdb.php?prot=MRCKG_HUMAN&from=71&to=337&var=E241G	ENST00000342711		ENSG00000171219	29829		32	4.45		HGNC	p.E241G		CDC42BPG		SNV							ENST00000342711	protein_coding	getma.org/?cm=var&var=hg19,11,64606659,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF22,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/G		C	high	722/5742		getma.org/?cm=msa&ty=f&p=MRCKG_HUMAN&rb=71&re=337&var=E241G	deleterious(0)				YES	CDC42BPG,missense_variant,p.Glu241Gly,ENST00000342711,NM_017525.2;							MODERATE	722/4656	E241G	MRCKG_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000345133		CCDS31601.1			1	
HDGF	0	LGGM	GRCh37	1	156714804	156714804	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	45	10	.	.	ENST00000368206.5:c.347A>G	p.Tyr116Cys	p.Y116C	ENST00000368206	NM_001126050.1	116	tAt/tGt	0	1		UPI0000044935	0	getma.org/pdb.php?prot=HDGF_HUMAN&from=82&to=107&var=Y100C	ENST00000357325		ENSG00000143321	4856		55	0.975		HGNC	p.Y100C		HDGF		SNV							ENST00000357325	protein_coding	getma.org/?cm=var&var=hg19,1,156714804,T,C&fts=all		hmmpanther:PTHR12550,hmmpanther:PTHR12550:SF20,Superfamily_domains:SSF63748		Y/C		C	low	614/2380		getma.org/?cm=msa&ty=f&p=HDGF_HUMAN&rb=52&re=137&var=Y100C	tolerated(0.15)	A8K8G0_HUMAN				HDGF,missense_variant,p.Tyr100Cys,ENST00000357325,NM_004494.2;HDGF,missense_variant,p.Tyr93Cys,ENST00000368209,NM_001126051.1;HDGF,missense_variant,p.Tyr100Cys,ENST00000537739,;HDGF,missense_variant,p.Tyr68Cys,ENST00000416666,;HDGF,missense_variant,p.Tyr116Cys,ENST00000368206,NM_001126050.1;MRPL24,upstream_gene_variant,,ENST00000434558,;MRPL24,upstream_gene_variant,,ENST00000368211,NM_024540.3,NM_145729.2;MRPL24,upstream_gene_variant,,ENST00000361531,;MRPL24,upstream_gene_variant,,ENST00000412846,;MRPL24,upstream_gene_variant,,ENST00000420938,;HDGF,non_coding_transcript_exon_variant,,ENST00000465180,;HDGF,non_coding_transcript_exon_variant,,ENST00000482651,;HDGF,non_coding_transcript_exon_variant,,ENST00000469145,;HDGF,non_coding_transcript_exon_variant,,ENST00000495212,;HDGF,non_coding_transcript_exon_variant,,ENST00000471377,;HDGF,upstream_gene_variant,,ENST00000477306,;							MODERATE	299/723	Y100C	HDGF_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000349878		CCDS1156.1			1	
SEPT1	0	LGGM	GRCh37	16	30393674	30393674	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	72	10	.	.	ENST00000321367.3:c.157G>A	p.Val53Met	p.V53M	ENST00000321367	NM_052838.4	53	Gtg/Atg	0	1	1	UPI000066D948	0	NA	ENST00000321367		ENSG00000180096	2879	0.000173	82	1.185		HGNC	p.V6M	rs557567271	SEPT1		SNV				0.00058			ENST00000571393	protein_coding	getma.org/?cm=var&var=hg19,16,30393674,C,T&fts=all	T:0.003	hmmpanther:PTHR18884,hmmpanther:PTHR18884:SF6,PIRSF_domain:PIRSF006698,Superfamily_domains:SSF52540		V/M		T	low	203/1592		getma.org/?cm=msa&ty=f&p=SEPT1_HUMAN&rb=1&re=51&var=V6M	deleterious(0)	S4R362_HUMAN,J3KNL2_HUMAN,H3BS29_HUMAN	T:0	T:0	YES	SEPT1,missense_variant,p.Val53Met,ENST00000321367,NM_052838.4;SEPT1,missense_variant,p.Val6Met,ENST00000571393,;SEPT1,missense_variant,p.Val11Met,ENST00000605106,;SEPT1,5_prime_UTR_variant,,ENST00000566517,;ZNF48,intron_variant,,ENST00000528032,;ZNF48,intron_variant,,ENST00000495929,;MYLPF,downstream_gene_variant,,ENST00000322861,NM_013292.3;MYLPF,downstream_gene_variant,,ENST00000568749,;MYLPF,downstream_gene_variant,,ENST00000566955,;SEPT1,downstream_gene_variant,,ENST00000570039,;SEPT1,downstream_gene_variant,,ENST00000567783,;SEPT1,missense_variant,p.Val11Met,ENST00000572252,;SEPT1,missense_variant,p.Arg28His,ENST00000568577,;SEPT1,non_coding_transcript_exon_variant,,ENST00000563957,;SEPT1,non_coding_transcript_exon_variant,,ENST00000573615,;SEPT1,non_coding_transcript_exon_variant,,ENST00000563743,;SEPT1,non_coding_transcript_exon_variant,,ENST00000562152,;MYLPF,downstream_gene_variant,,ENST00000563728,;		T:0.0008					MODERATE	157/1245	V6M			T:0	Transcript		probably_damaging(0.999)	common_variant	ENSP00000324511	6.59E-05	CCDS10678.3		T:0	1	
LTBP4	0	LGGM	GRCh37	19	41119085	41119085	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	18	10	.	.	ENST00000308370.7:c.2615G>C	p.Arg872Pro	p.R872P	ENST00000308370	NM_001042544.1	872	cGg/cCg	0	1	1	UPI000179A7A0	0	getma.org/pdb.php?prot=LTBP4_HUMAN&from=834&to=876&var=R872P	ENST00000308370		ENSG00000090006	6717		28	0.425		HGNC	p.R835P		LTBP4		SNV			1				ENST00000204005	protein_coding	getma.org/?cm=var&var=hg19,19,41119085,G,C&fts=all		SMART_domains:SM00181,SMART_domains:SM00179,hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41,PROSITE_profiles:PS50026		R/P		C	neutral	2615/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=834&re=876&var=R872P	tolerated(0.1)				YES	LTBP4,missense_variant,p.Arg872Pro,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Arg835Pro,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Arg805Pro,ENST00000396819,NM_001042545.1;LTBP4,missense_variant,p.Arg325Pro,ENST00000545697,;LTBP4,missense_variant,p.Arg104Pro,ENST00000601032,;LTBP4,upstream_gene_variant,,ENST00000243562,;LTBP4,upstream_gene_variant,,ENST00000599724,;LTBP4,upstream_gene_variant,,ENST00000597071,;LTBP4,upstream_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,,ENST00000601560,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598055,;LTBP4,upstream_gene_variant,,ENST00000595183,;LTBP4,upstream_gene_variant,,ENST00000597603,;LTBP4,non_coding_transcript_exon_variant,,ENST00000546155,;LTBP4,non_coding_transcript_exon_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000595118,;LTBP4,upstream_gene_variant,,ENST00000318809,;LTBP4,downstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000594266,;LTBP4,downstream_gene_variant,,ENST00000598256,;LTBP4,upstream_gene_variant,,ENST00000597816,;LTBP4,upstream_gene_variant,,ENST00000602251,;LTBP4,upstream_gene_variant,,ENST00000595767,;LTBP4,upstream_gene_variant,,ENST00000600499,;LTBP4,upstream_gene_variant,,ENST00000601570,;LTBP4,upstream_gene_variant,,ENST00000594457,;LTBP4,upstream_gene_variant,,ENST00000595665,;LTBP4,upstream_gene_variant,,ENST00000594448,;LTBP4,upstream_gene_variant,,ENST00000593614,;LTBP4,upstream_gene_variant,,ENST00000596351,;LTBP4,upstream_gene_variant,,ENST00000601464,;							MODERATE	2615/4872	R872P	LTBP4_HUMAN			Transcript		benign(0.015)	.	ENSP00000311905					1	
BMPR1B	0	LGGM	GRCh37	4	96051059	96051059	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	17	10	.	.	ENST00000440890.2:c.722G>A	p.Gly241Glu	p.G241E	ENST00000440890		241	gGa/gAa	0	1		UPI000000DC59	0	getma.org/pdb.php?prot=BMR1B_HUMAN&from=204&to=491&var=G211E	ENST00000264568		ENSG00000138696	1077		27	4.145		HGNC	p.G211E	COSM1310394,COSM1310393	BMPR1B		SNV			1			1,1	ENST00000264568	protein_coding	getma.org/?cm=var&var=hg19,4,96051059,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23255:SF62,hmmpanther:PTHR23255,PROSITE_patterns:PS00107,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/E		A	high	786/1807		getma.org/?cm=msa&ty=f&p=BMR1B_HUMAN&rb=204&re=491&var=G211E	deleterious(0)	D6RGW8_HUMAN				BMPR1B,missense_variant,p.Gly211Glu,ENST00000515059,NM_001203.2;BMPR1B,missense_variant,p.Gly211Glu,ENST00000394931,;BMPR1B,missense_variant,p.Gly211Glu,ENST00000264568,NM_001256794.1;BMPR1B,missense_variant,p.Gly241Glu,ENST00000440890,;BMPR1B,missense_variant,p.Gly211Glu,ENST00000509540,NM_001256793.1;BMPR1B,missense_variant,p.Gly211Glu,ENST00000512312,NM_001256792.1;					1,1		MODERATE	632/1509	G211E	BMR1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000264568		CCDS3642.1			1	
SLC22A2	0	LGGM	GRCh37	6	160679727	160679727	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	16	10	.	.	ENST00000366953.3:c.63A>C	p.Gln21His	p.Q21H	ENST00000366953	NM_003058.3	21	caA/caC	0	1	1	UPI000013D5BB	0	NA	ENST00000366953		ENSG00000112499	10966		26	2.42		HGNC	p.Q21H		SLC22A2		SNV							ENST00000366953	protein_coding	getma.org/?cm=var&var=hg19,6,160679727,T,G&fts=all		hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF173,TIGRFAM_domain:TIGR00898		Q/H		G	medium	322/2597		getma.org/?cm=msa&ty=f&p=S22A2_HUMAN&rb=1&re=59&var=Q21H	deleterious(0)	Q5T7Q5_HUMAN			YES	SLC22A2,missense_variant,p.Gln21His,ENST00000366953,NM_003058.3;SLC22A2,5_prime_UTR_variant,,ENST00000366952,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000491092,;SLC22A2,non_coding_transcript_exon_variant,,ENST00000489644,;							MODERATE	63/1668	Q21H	S22A2_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000355920		CCDS5276.1			1	
MAGEE2	0	LGGM	GRCh37	X	75003405	75003405	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	10	10	.	.	ENST00000373359.2:c.1482C>G	p.Asn494Lys	p.N494K	ENST00000373359	NM_138703.4	494	aaC/aaG	0	1	1	UPI0000071D2B	0	getma.org/pdb.php?prot=MAGE2_HUMAN&from=311&to=502&var=N494K	ENST00000373359		ENSG00000186675	24935		20	0.55		HGNC	p.N494K		MAGEE2		SNV							ENST00000373359	protein_coding	getma.org/?cm=var&var=hg19,X,75003405,G,C&fts=all		PROSITE_profiles:PS50838,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF7		N/K		C	neutral	1675/2257		getma.org/?cm=msa&ty=f&p=MAGE2_HUMAN&rb=311&re=502&var=N494K	deleterious(0.03)				YES	MAGEE2,missense_variant,p.Asn494Lys,ENST00000373359,NM_138703.4;							MODERATE	1482/1572	N494K	MAGE2_HUMAN			Transcript		benign(0)	.	ENSP00000362457		CCDS14431.1			1	
PSRC1	0	LGGM	GRCh37	1	109824246	109824246	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	22	11	.	.	ENST00000369909.2:c.514A>C	p.Lys172Gln	p.K172Q	ENST00000369909	NM_032636.7	172	Aag/Cag	0	1		UPI00001CE021	0	NA	ENST00000409138		ENSG00000134222	24472		33	1.5		HGNC	p.K172Q		PSRC1		SNV							ENST00000429031	protein_coding	getma.org/?cm=var&var=hg19,1,109824246,T,G&fts=all		hmmpanther:PTHR21584,hmmpanther:PTHR21584:SF1		K/Q		G	low	660/1826		getma.org/?cm=msa&ty=f&p=PSRC1_HUMAN&rb=1&re=219&var=K172Q	deleterious(0.01)	Q5T2Z0_HUMAN				PSRC1,missense_variant,p.Lys172Gln,ENST00000438534,NM_001005290.3;PSRC1,missense_variant,p.Lys172Gln,ENST00000409138,;PSRC1,missense_variant,p.Lys172Gln,ENST00000369909,NM_032636.7,NM_001032291.2;PSRC1,missense_variant,p.Lys172Gln,ENST00000409267,;PSRC1,missense_variant,p.Lys172Gln,ENST00000369907,;PSRC1,missense_variant,p.Lys172Gln,ENST00000369903,;PSRC1,missense_variant,p.Lys172Gln,ENST00000369904,;PSRC1,missense_variant,p.Lys172Gln,ENST00000418914,;PSRC1,missense_variant,p.Lys172Gln,ENST00000429031,;PSRC1,missense_variant,p.Lys20Gln,ENST00000474126,;PSRC1,non_coding_transcript_exon_variant,,ENST00000492431,;PSRC1,non_coding_transcript_exon_variant,,ENST00000459765,;PSRC1,non_coding_transcript_exon_variant,,ENST00000471740,;							MODERATE	514/1092	K172Q	PSRC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000474667					1	
SLC36A3	0	LGGM	GRCh37	5	150657018	150657018	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	87	11	.	.	ENST00000377713.3:c.1472C>T	p.Ala491Val	p.A491V	ENST00000377713	NM_001145017.1	491	gCc/gTc	0	1		UPI00001AA154	0	NA	ENST00000335230		ENSG00000186334	19659		98	2.615		HGNC	p.A450V		SLC36A3		SNV							ENST00000335230	protein_coding	getma.org/?cm=var&var=hg19,5,150657018,G,A&fts=all		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF203,Transmembrane_helices:TMhelix		A/V		A	medium	1761/2456		getma.org/?cm=msa&ty=f&p=S36A3_HUMAN&rb=40&re=452&var=A450V	deleterious(0)					SLC36A3,missense_variant,p.Ala450Val,ENST00000335230,NM_181774.3;SLC36A3,missense_variant,p.Ala491Val,ENST00000377713,NM_001145017.1;SLC36A3,non_coding_transcript_exon_variant,,ENST00000423071,;							MODERATE	1349/1413	A450V	S36A3_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000334750		CCDS4314.1			1	
OR2B6	0	LGGM	GRCh37	6	27925950	27925950	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	35	12	.	.	ENST00000244623.1:c.932T>C	p.Ile311Thr	p.I311T	ENST00000244623	NM_012367.1	311	aTc/aCc	0	1	1	UPI000003F061	0	NA	ENST00000244623		ENSG00000124657	8241		47	0		HGNC	p.I311T	rs375426538	OR2B6		SNV	C:0						ENST00000244623	protein_coding	getma.org/?cm=var&var=hg19,6,27925950,T,C&fts=all		hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF202		I/T	C:0.0001	C	neutral	932/942		getma.org/?cm=msa&ty=f&p=OR2B6_HUMAN&rb=284&re=313&var=I311T	tolerated(0.51)				YES	OR2B6,missense_variant,p.Ile311Thr,ENST00000244623,NM_012367.1;							MODERATE	932/942	I311T	OR2B6_HUMAN			Transcript		benign(0.001)	.	ENSP00000244623		CCDS4642.1			1	
MUC16	0	LGGM	GRCh37	19	8987303	8987303	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	5	12	.	.	ENST00000397910.4:c.41784G>A	p.Leu13928=	p.L13928=	ENST00000397910	NM_024690.2	13928	ctG/ctA	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		17			HGNC	p.L569L		MUC16		SNV							ENST00000380951	protein_coding			Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		L		T		41988/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	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,;							LOW	41784/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
MEP1A	0	LGGM	GRCh37	6	46802318	46802318	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	42	13	.	.	ENST00000230588.4:c.1613T>C	p.Ile538Thr	p.I538T	ENST00000230588	NM_005588.2	538	aTa/aCa	0	1	1	UPI000006E4E9	0	getma.org/pdb.php?prot=MEP1A_HUMAN&from=438&to=595&var=I538T	ENST00000230588		ENSG00000112818	7015	8.64E-05	55	2.25		HGNC	p.I538T	rs776229099	MEP1A	0.000442	SNV							ENST00000230588	protein_coding	getma.org/?cm=var&var=hg19,6,46802318,T,C&fts=all		Gene3D:2.60.210.10,Pfam_domain:PF00917,PIRSF_domain:PIRSF001196,PROSITE_profiles:PS50144,SMART_domains:SM00061,Superfamily_domains:SSF49599		I/T		C	medium	1622/2892		getma.org/?cm=msa&ty=f&p=MEP1A_HUMAN&rb=438&re=595&var=I538T	tolerated(0.47)				YES	MEP1A,missense_variant,p.Ile538Thr,ENST00000230588,NM_005588.2;							MODERATE	1613/2241	I538T	MEP1A_HUMAN			Transcript		benign(0.014)	common_variant	ENSP00000230588	6.59E-05	CCDS4918.1			1	
CASK	0	LGGM	GRCh37	X	41646441	41646441	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	24	13	.	.	ENST00000378166.4:c.268G>T	p.Val90Phe	p.V90F	ENST00000378166	NM_003688.3	90	Gtt/Ttt	0	1		UPI0000458AE9	0	getma.org/pdb.php?prot=CSKP_HUMAN&from=12&to=276&var=V90F	ENST00000378163		ENSG00000147044	1497		37	2.48		HGNC	p.V90F		CASK		SNV			1				ENST00000378158	protein_coding	getma.org/?cm=var&var=hg19,X,41646441,C,A&fts=all		Superfamily_domains:SSF56112,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR23122:SF40,hmmpanther:PTHR23122,PROSITE_profiles:PS50011		V/F		A	medium	743/4411		getma.org/?cm=msa&ty=f&p=CSKP_HUMAN&rb=12&re=276&var=V90F	deleterious(0)					CASK,missense_variant,p.Val90Phe,ENST00000318588,;CASK,missense_variant,p.Val90Phe,ENST00000361962,;CASK,missense_variant,p.Val90Phe,ENST00000421587,NM_001126055.2;CASK,missense_variant,p.Val90Phe,ENST00000378163,;CASK,missense_variant,p.Val90Phe,ENST00000378158,;CASK,missense_variant,p.Val90Phe,ENST00000378166,NM_003688.3;CASK,missense_variant,p.Val90Phe,ENST00000442742,NM_001126054.2;CASK,missense_variant,p.Val90Phe,ENST00000378154,;CASK,non_coding_transcript_exon_variant,,ENST00000477823,;CASK,non_coding_transcript_exon_variant,,ENST00000468986,;RP5-1174J21.1,downstream_gene_variant,,ENST00000443795,;							MODERATE	268/2781	V90F	CSKP_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000367405					1	
FRMD4A	0	LGGM	GRCh37	10	13716983	13716983	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	34	13	.	.	ENST00000357447.2:c.1179C>A	p.Ser393=	p.S393=	ENST00000357447	NM_018027.3	393	tcC/tcA	0	1	1	UPI0000366665	0		ENST00000357447		ENSG00000151474	25491		47			HGNC	p.S426S		FRMD4A		SNV							ENST00000264546	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF11819,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF12		S		T		1548/6815				F8WAN4_HUMAN			YES	FRMD4A,synonymous_variant,p.=,ENST00000357447,NM_018027.3;FRMD4A,synonymous_variant,p.=,ENST00000358621,;FRMD4A,synonymous_variant,p.=,ENST00000378503,;FRMD4A,synonymous_variant,p.=,ENST00000264546,;RP11-295P9.12,upstream_gene_variant,,ENST00000609756,;							LOW	1179/3120		FRM4A_HUMAN			Transcript			.	ENSP00000350032		CCDS7101.1			1	
TAF13	0	LGGM	GRCh37	1	109618544	109618544	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	31	13	.	.	ENST00000338366.5:c.26C>T	p.Thr9Met	p.T9M	ENST00000338366	NM_005645.3	9	aCg/aTg	0	1	1	UPI000000104E	0	NA	ENST00000338366		ENSG00000197780	11546		44	0.55		HGNC	p.T9M		TAF13		SNV							ENST00000338366	protein_coding	getma.org/?cm=var&var=hg19,1,109618544,G,A&fts=all		hmmpanther:PTHR11380,Low_complexity_(Seg):seg		T/M		A	neutral	81/813		getma.org/?cm=msa&ty=f&p=TAF13_HUMAN&rb=1&re=59&var=T9M	tolerated(0.1)				YES	TAF13,missense_variant,p.Thr9Met,ENST00000338366,NM_005645.3;TAF13,missense_variant,p.Thr9Met,ENST00000461096,;							MODERATE	26/375	T9M	TAF13_HUMAN			Transcript		unknown(0)	.	ENSP00000355051		CCDS30788.1			1	
DUSP27	0	LGGM	GRCh37	1	167096237	167096237	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	7	13	.	.	ENST00000361200.2:c.1869A>G	p.Arg623=	p.R623=	ENST00000361200		623	agA/agG	0	1		UPI000040DFF5	0		ENST00000271385		ENSG00000198842	25034		20			HGNC	p.R623R		DUSP27		SNV							ENST00000361200	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF25,Low_complexity_(Seg):seg		R		G		1989/3597								DUSP27,synonymous_variant,p.=,ENST00000361200,;DUSP27,synonymous_variant,p.=,ENST00000443333,NM_001080426.1;DUSP27,synonymous_variant,p.=,ENST00000271385,;DUSP27,intron_variant,,ENST00000485151,;							LOW	1869/3477		DUS27_HUMAN			Transcript			.	ENSP00000271385		CCDS30932.1			1	
FAM13C	0	LGGM	GRCh37	10	61115651	61115651	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	43	13	.	.	ENST00000373868.2:c.115C>T	p.Leu39Phe	p.L39F	ENST00000373868	NM_198215.3	39	Ctc/Ttc	0	1	1	UPI00001AEA18	0	NA	ENST00000373868		ENSG00000148541	19371		56	1.155		HGNC	p.L39F		FAM13C		SNV							ENST00000277705	protein_coding	getma.org/?cm=var&var=hg19,10,61115651,G,A&fts=all		hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904		L/F		A	low	203/3327		getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=L39F	tolerated_low_confidence(0.37)	D6RIX4_HUMAN			YES	FAM13C,missense_variant,p.Leu39Phe,ENST00000277705,;FAM13C,missense_variant,p.Leu39Phe,ENST00000442566,;FAM13C,missense_variant,p.Leu39Phe,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.Leu39Phe,ENST00000419214,NM_001001971.2;FAM13C,missense_variant,p.Leu39Phe,ENST00000435852,;FAM13C,missense_variant,p.Leu39Phe,ENST00000422313,;FAM13C,5_prime_UTR_variant,,ENST00000373867,NM_001166698.1;FAM13C,5_prime_UTR_variant,,ENST00000468840,NM_001143773.1;FAM13C,5_prime_UTR_variant,,ENST00000503444,;FAM13C,5_prime_UTR_variant,,ENST00000512919,;FAM13C,non_coding_transcript_exon_variant,,ENST00000470220,;FAM13C,upstream_gene_variant,,ENST00000507862,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,3_prime_UTR_variant,,ENST00000504410,;							MODERATE	115/1758	L39F	FA13C_HUMAN			Transcript		benign(0.037)	.	ENSP00000362975		CCDS7255.1			1	
RP11-1407O15.2	0	LGGM	GRCh37	17	36357259	36357259	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	140	14	.	.	ENST00000520237.1:c.994C>A	p.Leu332Ile	p.L332I	ENST00000520237		332	Ctt/Att	0	1	1	UPI0001AE669C	0		ENST00000520237		ENSG00000174093			154			Clone_based_vega_gene	p.L332I		RP11-1407O15.2		SNV							ENST00000520237	protein_coding			Superfamily_domains:SSF55486,Pfam_domain:PF01433,hmmpanther:PTHR11533:SF163,hmmpanther:PTHR11533		L/I		T		1104/1676				E7EWZ2_HUMAN			YES	RP11-1407O15.2,missense_variant,p.Leu332Ile,ENST00000520237,;RP11-1407O15.2,missense_variant,p.Leu332Ile,ENST00000312412,;RP11-1407O15.2,missense_variant,p.Leu328Ile,ENST00000518004,;RP11-1407O15.2,missense_variant,p.Leu177Ile,ENST00000544906,;RP11-1407O15.2,missense_variant,p.Leu288Ile,ENST00000523089,;TBC1D3,5_prime_UTR_variant,,ENST00000537432,;RP11-1407O15.2,missense_variant,p.Leu20Ile,ENST00000523258,;RP11-1407O15.2,3_prime_UTR_variant,,ENST00000520499,;RP11-1407O15.2,3_prime_UTR_variant,,ENST00000523052,;RP11-1407O15.2,non_coding_transcript_exon_variant,,ENST00000400815,;							MODERATE	994/1433					Transcript			.	ENSP00000428261					1	
PCYOX1L	0	LGGM	GRCh37	5	148747653	148747653	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	93	14	.	.	ENST00000274569.4:c.921C>T	p.Asp307=	p.D307=	ENST00000274569	NM_024028.3	307	gaC/gaT	0	1	1	UPI0000049E12	0		ENST00000274569		ENSG00000145882	28477		107			HGNC	p.D307D		PCYOX1L		SNV							ENST00000274569	protein_coding			Gene3D:3.50.50.60,Pfam_domain:PF07156,PIRSF_domain:PIRSF036292,hmmpanther:PTHR15944,hmmpanther:PTHR15944:SF2,Superfamily_domains:SSF51905		D		T		983/2546				E7EVZ5_HUMAN			YES	PCYOX1L,synonymous_variant,p.=,ENST00000514349,;PCYOX1L,synonymous_variant,p.=,ENST00000274569,NM_024028.3;RP11-394O4.3,upstream_gene_variant,,ENST00000521756,;IL17B,downstream_gene_variant,,ENST00000518814,;PCYOX1L,3_prime_UTR_variant,,ENST00000511945,;PCYOX1L,3_prime_UTR_variant,,ENST00000505669,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000507621,;PCYOX1L,non_coding_transcript_exon_variant,,ENST00000503240,;PCYOX1L,downstream_gene_variant,,ENST00000510990,;							LOW	921/1485		PCYXL_HUMAN			Transcript			.	ENSP00000274569		CCDS4296.1			1	
NCOA1	0	LGGM	GRCh37	2	24974872	24974872	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	27	14	.	.	ENST00000406961.1:c.3728C>T	p.Ala1243Val	p.A1243V	ENST00000406961		1243	gCc/gTc	0	1		UPI000006E1F7	0	NA	ENST00000348332		ENSG00000084676	7668		41	0		HGNC	p.A1092V		NCOA1		SNV							ENST00000407230	protein_coding	getma.org/?cm=var&var=hg19,2,24974872,C,T&fts=all		PIRSF_domain:PIRSF038181,Pfam_domain:PF07469,hmmpanther:PTHR10684:SF1,hmmpanther:PTHR10684		A/V		T	neutral	3986/6895		getma.org/?cm=msa&ty=f&p=NCOA1_HUMAN&rb=1212&re=1268&var=A1243V	deleterious(0.03)					NCOA1,missense_variant,p.Ala1243Val,ENST00000405141,;NCOA1,missense_variant,p.Ala1243Val,ENST00000406961,;NCOA1,missense_variant,p.Ala1243Val,ENST00000288599,NM_147223.2;NCOA1,missense_variant,p.Ala1243Val,ENST00000348332,NM_147233.2,NM_003743.4;NCOA1,missense_variant,p.Ala1243Val,ENST00000395856,;NCOA1,missense_variant,p.Ala1092Val,ENST00000407230,;NCOA1,missense_variant,p.Ala1243Val,ENST00000538539,;							MODERATE	3728/4326	A1243V	NCOA1_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000320940		CCDS1712.1			1	
PCBP2	0	LGGM	GRCh37	12	53861587	53861587	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	32	15	.	.	ENST00000359462.5:c.800-2A>T		p.X267_splice	ENST00000359462				0	1		UPI00001313C9	0		ENST00000439930		ENSG00000197111	8648		47			HGNC	-		PCBP2		SNV							ENST00000447282	protein_coding							T		-/1296				H3BSP4_HUMAN,F8W0G4_HUMAN,F8VTZ0_HUMAN				PCBP2,splice_acceptor_variant,,ENST00000603815,NM_001128912.1,NM_001128911.1,NM_005016.5,NM_031989.4;PCBP2,splice_acceptor_variant,,ENST00000447282,NM_001128913.1,NM_001098620.2;PCBP2,splice_acceptor_variant,,ENST00000359462,;PCBP2,splice_acceptor_variant,,ENST00000553064,;PCBP2,splice_acceptor_variant,,ENST00000359282,;PCBP2,splice_acceptor_variant,,ENST00000549863,;PCBP2,splice_acceptor_variant,,ENST00000546463,;PCBP2,splice_acceptor_variant,,ENST00000552296,;PCBP2,splice_acceptor_variant,,ENST00000439930,;PCBP2,splice_acceptor_variant,,ENST00000548933,;PCBP2,splice_acceptor_variant,,ENST00000562264,;PCBP2,intron_variant,,ENST00000437231,NM_001128914.1;PCBP2,intron_variant,,ENST00000455667,;PCBP2,intron_variant,,ENST00000547859,;PCBP2,intron_variant,,ENST00000552819,;PCBP2,downstream_gene_variant,,ENST00000541275,;PCBP2,splice_acceptor_variant,,ENST00000550585,;PCBP2,non_coding_transcript_exon_variant,,ENST00000547048,;RP11-793H13.8,downstream_gene_variant,,ENST00000547717,;PCBP2,downstream_gene_variant,,ENST00000546652,;PCBP2,upstream_gene_variant,,ENST00000550733,;PCBP2,downstream_gene_variant,,ENST00000547987,;PCBP2,downstream_gene_variant,,ENST00000549272,;							HIGH	800/1098		PCBP2_HUMAN			Transcript			.	ENSP00000408949		CCDS44901.1			1	
EQTN	0	LGGM	GRCh37	9	27292447	27292447	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	66	15	.	.	ENST00000380032.3:c.328A>G	p.Ile110Val	p.I110V	ENST00000380032	NM_020641.2	110	Att/Gtt	0	1	1	UPI000013CA7C	0	NA	ENST00000380032		ENSG00000120160	1359		81	0		HGNC	p.I110V		EQTN		SNV							ENST00000380032	protein_coding	getma.org/?cm=var&var=hg19,9,27292447,T,C&fts=all		Pfam_domain:PF15339,Low_complexity_(Seg):seg		I/V		C	neutral	412/1031		getma.org/?cm=msa&ty=f&p=AFAF_HUMAN&rb=53&re=264&var=I110V	tolerated(0.45)				YES	EQTN,missense_variant,p.Ile110Val,ENST00000380032,NM_020641.2;EQTN,missense_variant,p.Ile110Val,ENST00000380031,;EQTN,intron_variant,,ENST00000537675,NM_001161585.1;EQTN,non_coding_transcript_exon_variant,,ENST00000484994,;							MODERATE	328/885	I110V	EQTN_HUMAN			Transcript		benign(0)	.	ENSP00000369371		CCDS35001.1			1	
SPEN	0	LGGM	GRCh37	1	16254612	16254612	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	31	15	.	.	ENST00000375759.3:c.1877A>G	p.Tyr626Cys	p.Y626C	ENST00000375759	NM_015001.2	626	tAt/tGt	0	1	1	UPI000006FF0C	0	NA	ENST00000375759		ENSG00000065526	17575		46	0.695		HGNC	p.Y626C	COSM3723684	SPEN		SNV						1	ENST00000375759	protein_coding	getma.org/?cm=var&var=hg19,1,16254612,A,G&fts=all		hmmpanther:PTHR23189:SF9,hmmpanther:PTHR23189		Y/C		G	neutral	2081/12232		getma.org/?cm=msa&ty=f&p=MINT_HUMAN&rb=601&re=719&var=Y626C					YES	SPEN,missense_variant,p.Tyr626Cys,ENST00000375759,NM_015001.2;					1		MODERATE	1877/10995	Y626C	MINT_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000364912		CCDS164.1			1	
ARHGAP28	0	LGGM	GRCh37	18	6890003	6890003	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	55	15	.	.	ENST00000419673.2:c.1176T>G	p.Ser392=	p.S392=	ENST00000419673	NM_001010000.2	392	tcT/tcG	0	1		UPI0001E5E846	0		ENST00000383472		ENSG00000088756	25509		70			HGNC	p.S392S		ARHGAP28		SNV							ENST00000419673	protein_coding			Gene3D:1.10.555.10,PROSITE_profiles:PS50238,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF5,SMART_domains:SM00324,Superfamily_domains:SSF48350		S		G		1757/2295				J3KTC0_HUMAN,E9PL26_HUMAN				ARHGAP28,synonymous_variant,p.=,ENST00000419673,NM_001010000.2;ARHGAP28,synonymous_variant,p.=,ENST00000314319,;ARHGAP28,synonymous_variant,p.=,ENST00000262227,;ARHGAP28,synonymous_variant,p.=,ENST00000400091,;ARHGAP28,synonymous_variant,p.=,ENST00000383472,;ARHGAP28,synonymous_variant,p.=,ENST00000531294,;ARHGAP28,synonymous_variant,p.=,ENST00000532996,;ARHGAP28,synonymous_variant,p.=,ENST00000418986,;ARHGAP28,synonymous_variant,p.=,ENST00000579689,;							LOW	1653/2190		RHG28_HUMAN			Transcript			.	ENSP00000372964					1	
PKHD1L1	0	LGGM	GRCh37	8	110464475	110464475	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	98	16	.	.	ENST00000378402.5:c.6473G>C	p.Cys2158Ser	p.C2158S	ENST00000378402	NM_177531.4	2158	tGt/tCt	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		114	-0.55		HGNC	p.C2158S		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110464475,G,C&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF01833,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213,SMART_domains:SM00429,Superfamily_domains:SSF81296		C/S		C	neutral	6577/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=2091&re=2176&var=C2158S	tolerated(0.1)				YES	PKHD1L1,missense_variant,p.Cys2158Ser,ENST00000378402,NM_177531.4;							MODERATE	6473/12732	C2158S	PKHL1_HUMAN			Transcript		benign(0.004)	.	ENSP00000367655		CCDS47911.1			1	
MACF1	0	LGGM	GRCh37	1	39903591	39903591	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	43	17	.	.	ENST00000545844.1:c.11954A>T	p.Lys3985Ile	p.K3985I	ENST00000545844		3985	aAa/aTa	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		60	2.545		HGNC	p.K6044I		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39903591,A,T&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		K/I		T	medium	17915/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=3801&re=4000&var=K3985I		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Lys6044Ile,ENST00000564288,;MACF1,missense_variant,p.Lys6081Ile,ENST00000567887,;MACF1,missense_variant,p.Lys5943Ile,ENST00000372915,;MACF1,missense_variant,p.Lys4487Ile,ENST00000289893,;MACF1,missense_variant,p.Lys3985Ile,ENST00000545844,;MACF1,missense_variant,p.Lys3985Ile,ENST00000317713,;MACF1,missense_variant,p.Lys3985Ile,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Lys3855Ile,ENST00000539005,;MACF1,missense_variant,p.Lys2989Ile,ENST00000372925,;MACF1,intron_variant,,ENST00000469490,;MACF1,downstream_gene_variant,,ENST00000473843,;							MODERATE	17828/22167	K3985I	MACF1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000362006					1	
DNAJC13	0	LGGM	GRCh37	3	132242462	132242462	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	34	17	.	.	ENST00000260818.6:c.5965A>G	p.Ile1989Val	p.I1989V	ENST00000260818	NM_015268.3	1989	Att/Gtt	0	1	1	UPI000022C1FD	0	NA	ENST00000260818		ENSG00000138246	30343	8.64E-05	51	1.195		HGNC	p.I1989V	rs770942699	DNAJC13		SNV			1				ENST00000260818	protein_coding	getma.org/?cm=var&var=hg19,3,132242462,A,G&fts=all		hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF25		I/V		G	low	6213/7730		getma.org/?cm=msa&ty=f&p=DJC13_HUMAN&rb=1363&re=2241&var=I1989V	tolerated(0.71)				YES	DNAJC13,missense_variant,p.Ile1989Val,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000463038,;DNAJC13,upstream_gene_variant,,ENST00000509279,;							MODERATE	5965/6732	I1989V	DJC13_HUMAN			Transcript		benign(0.002)	.	ENSP00000260818	8.24E-06	CCDS33857.1			1	
LUZP1	0	LGGM	GRCh37	1	23420637	23420637	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	45	18	.	.	ENST00000302291.4:c.118G>T	p.Ala40Ser	p.A40S	ENST00000302291		40	Gca/Tca	0	1	1	UPI000020466A	0	NA	ENST00000302291		ENSG00000169641	14985		63	1.47		HGNC	p.A40S		LUZP1		SNV							ENST00000302291	protein_coding	getma.org/?cm=var&var=hg19,1,23420637,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23166:SF7,hmmpanther:PTHR23166		A/S		A	low	920/8898		getma.org/?cm=msa&ty=f&p=LUZP1_HUMAN&rb=1&re=1074&var=A40S	tolerated(0.31)	E5RHU7_HUMAN,E5RFK8_HUMAN			YES	LUZP1,missense_variant,p.Ala40Ser,ENST00000302291,;LUZP1,missense_variant,p.Ala40Ser,ENST00000418342,NM_001142546.1,NM_033631.3;LUZP1,missense_variant,p.Ala40Ser,ENST00000374623,NM_033631.3;LUZP1,missense_variant,p.Ala40Ser,ENST00000314174,;LUZP1,missense_variant,p.Ala40Ser,ENST00000471849,;LUZP1,downstream_gene_variant,,ENST00000475164,;							MODERATE	118/3231	A40S	LUZP1_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000303758		CCDS30628.1			1	
CHSY3	0	LGGM	GRCh37	5	129241200	129241210	+	frameshift_variant	Frame_Shift_Del	DEL	ACCGGGTGTGG	ACCGGGTGTGG	-	novel	by Submitter	H110669	H110669N.bam	ACCGGGTGTGG	ACCGGGTGTGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	37	18	.	.	ENST00000305031.4:c.680_690del	p.Pro227ArgfsTer25	p.P227Rfs*25	ENST00000305031	NM_175856.4	226	ctACCGGGTGTGGac/ctac	0	1	1	UPI0000251E08	0		ENST00000305031		ENSG00000198108	24293		55			HGNC	p.226_230del		CHSY3		deletion							ENST00000305031	protein_coding			hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Low_complexity_(Seg):seg		LPGVD/LX		-		1036-1046/3850				Q1JTV1_HUMAN			YES	CHSY3,frameshift_variant,p.Pro227ArgfsTer25,ENST00000305031,NM_175856.4;CTC-575N7.1,intron_variant,,ENST00000503616,;CTC-575N7.1,intron_variant,,ENST00000515569,;CHSY3,upstream_gene_variant,,ENST00000507545,;							HIGH	678-688/2649		CHSS3_HUMAN			Transcript	2		.	ENSP00000302629		CCDS34223.1			1	
AUTS2	0	LGGM	GRCh37	7	70228074	70228074	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	14	20	.	.	ENST00000342771.4:c.961G>T	p.Asp321Tyr	p.D321Y	ENST00000342771	NM_015570.2	321	Gac/Tac	0	1	1	UPI0000126665	0	NA	ENST00000342771		ENSG00000158321	14262		34	0		HGNC	p.D321Y		AUTS2		SNV			1				ENST00000342771	protein_coding	getma.org/?cm=var&var=hg19,7,70228074,G,T&fts=all		hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5		D/Y		T	neutral	1282/6173		getma.org/?cm=msa&ty=f&p=AUTS2_HUMAN&rb=1&re=1257&var=D321Y	deleterious(0.04)	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN			YES	AUTS2,missense_variant,p.Asp321Tyr,ENST00000342771,NM_015570.2;AUTS2,missense_variant,p.Asp321Tyr,ENST00000406775,NM_001127231.1;AUTS2,missense_variant,p.Asp102Tyr,ENST00000416482,;AUTS2,upstream_gene_variant,,ENST00000443672,;AUTS2,upstream_gene_variant,,ENST00000483297,;AUTS2,upstream_gene_variant,,ENST00000481994,;							MODERATE	961/3780	D321Y	AUTS2_HUMAN			Transcript		benign(0.237)	.	ENSP00000344087		CCDS5539.1			1	
CLEC2A	0	LGGM	GRCh37	12	10084913	10084913	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	25	21	.	.	ENST00000455827.1:c.16C>T	p.Leu6=	p.L6=	ENST00000455827	NM_001130711.1	6	Ctg/Ttg	0	1	1	UPI000156577E	0		ENST00000455827		ENSG00000188393	24191		46			HGNC	p.L6L		CLEC2A		SNV							ENST00000455827	protein_coding					L		A		68/916							YES	CLEC2A,synonymous_variant,p.=,ENST00000455827,NM_001130711.1;CLEC2A,synonymous_variant,p.=,ENST00000339766,;AC091814.2,downstream_gene_variant,,ENST00000412084,;							LOW	16/525		CLC2A_HUMAN			Transcript			.	ENSP00000396163		CCDS44829.1			1	
ANK3	0	LGGM	GRCh37	10	61835628	61835628	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	47	21	.	.	ENST00000280772.2:c.5011A>C	p.Ile1671Leu	p.I1671L	ENST00000280772	NM_020987.3	1671	Ata/Cta	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		68	0		HGNC	p.I1671L		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61835628,T,G&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,Low_complexity_(Seg):seg		I/L		G	neutral	5203/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=1487&re=1686&var=I1671L		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Ile1671Leu,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,;							MODERATE	5011/13134	I1671L	ANK3_HUMAN			Transcript		benign(0)	.	ENSP00000280772		CCDS7258.1			1	
DNAH3	0	LGGM	GRCh37	16	20986601	20986601	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	171	24	.	.	ENST00000261383.3:c.8213A>T	p.Asp2738Val	p.D2738V	ENST00000261383	NM_017539.1	2738	gAt/gTt	0	1	1	UPI00001100F2	0	getma.org/pdb.php?prot=DYH3_HUMAN&from=2677&to=3027&var=D2738V	ENST00000261383		ENSG00000158486	2949		195	2.735		HGNC	p.D2738V		DNAH3		SNV							ENST00000261383	protein_coding	getma.org/?cm=var&var=hg19,16,20986601,T,A&fts=all		Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF242		D/V		A	medium	8213/12394		getma.org/?cm=msa&ty=f&p=DYH3_HUMAN&rb=2677&re=3027&var=D2738V	deleterious(0)				YES	DNAH3,missense_variant,p.Asp2738Val,ENST00000261383,NM_017539.1;DNAH3,3_prime_UTR_variant,,ENST00000415178,;							MODERATE	8213/12351	D2738V	DYH3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000261383		CCDS10594.1			1	
NDST4	0	LGGM	GRCh37	4	115997710	115997710	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	14	24	.	.	ENST00000264363.2:c.483A>G	p.Ile161Met	p.I161M	ENST00000264363	NM_022569.1	161	atA/atG	0	1	1	UPI000006CED7	0	NA	ENST00000264363		ENSG00000138653	20779		38	1.91		HGNC	p.I161M		NDST4		SNV							ENST00000264363	protein_coding	getma.org/?cm=var&var=hg19,4,115997710,T,C&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF29		I/M		C	medium	1162/3351		getma.org/?cm=msa&ty=f&p=NDST4_HUMAN&rb=19&re=505&var=I161M	tolerated(0.05)				YES	NDST4,missense_variant,p.Ile161Met,ENST00000264363,NM_022569.1;NDST4,intron_variant,,ENST00000504854,;NDST4,intron_variant,,ENST00000514570,;							MODERATE	483/2619	I161M	NDST4_HUMAN			Transcript		benign(0.023)	.	ENSP00000264363		CCDS3706.1			1	
KIF1B	0	LGGM	GRCh37	1	10394637	10394637	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110669	H110669N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	19	25	.	.	ENST00000263934.6:c.2846T>A	p.Ile949Asn	p.I949N	ENST00000263934	NM_015074.3	949	aTc/aAc	0	1		UPI000003424C	0	NA	ENST00000377086		ENSG00000054523	16636		44	1.5		HGNC	p.I949N		KIF1B		SNV			1				ENST00000263934	protein_coding	getma.org/?cm=var&var=hg19,1,10394637,T,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328		I/N		A	low	3186/10669		getma.org/?cm=msa&ty=f&p=KIF1B_HUMAN&rb=893&re=1092&var=I995N	deleterious(0)	B4DMF3_HUMAN				KIF1B,missense_variant,p.Ile995Asn,ENST00000377086,;KIF1B,missense_variant,p.Ile995Asn,ENST00000377081,;KIF1B,missense_variant,p.Ile949Asn,ENST00000263934,NM_015074.3;							MODERATE	2984/5451	I995N	KIF1B_HUMAN			Transcript		possibly_damaging(0.757)	.	ENSP00000366290					1	
ATP1A4	0	LGGM	GRCh37	1	160134189	160134189	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	86	25	.	.	ENST00000368081.4:c.1022C>A	p.Pro341His	p.P341H	ENST00000368081	NM_144699.3	341	cCt/cAt	0	1	1	UPI0000124FC5	0	getma.org/pdb.php?prot=AT1A4_HUMAN&from=143&to=374&var=P341H	ENST00000368081		ENSG00000132681	14073		111	5.05		HGNC	p.P341H		ATP1A4		SNV							ENST00000477338	protein_coding	getma.org/?cm=var&var=hg19,1,160134189,C,A&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF233,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494,Transmembrane_helices:TMhelix		P/H		A	high	1493/3839		getma.org/?cm=msa&ty=f&p=AT1A4_HUMAN&rb=143&re=374&var=P341H	deleterious(0)	Q13818_HUMAN			YES	ATP1A4,missense_variant,p.Pro341His,ENST00000368081,NM_144699.3;ATP1A4,missense_variant,p.Pro341His,ENST00000477338,;ATP1A4,upstream_gene_variant,,ENST00000469023,;							MODERATE	1022/3090	P341H	AT1A4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000357060		CCDS1197.1			1	
DOPEY2	0	LGGM	GRCh37	21	37584272	37584272	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	22	27	.	.	ENST00000399151.3:c.781G>T	p.Asp261Tyr	p.D261Y	ENST00000399151	NM_005128.2	261	Gat/Tat	0	1	1	UPI000013D876	0	NA	ENST00000399151		ENSG00000142197	1291		49	1.445		HGNC	p.D261Y		DOPEY2		SNV							ENST00000399151	protein_coding	getma.org/?cm=var&var=hg19,21,37584272,G,T&fts=all		hmmpanther:PTHR14042:SF23,hmmpanther:PTHR14042,Pfam_domain:PF04118		D/Y		T	low	866/7685		getma.org/?cm=msa&ty=f&p=DOP2_HUMAN&rb=10&re=314&var=D261Y	deleterious(0.03)	F8W8U9_HUMAN			YES	DOPEY2,missense_variant,p.Asp261Tyr,ENST00000399151,NM_005128.2;RN7SL73P,downstream_gene_variant,,ENST00000585239,;DOPEY2,splice_region_variant,,ENST00000492760,;							MODERATE	781/6897	D261Y	DOP2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000382104		CCDS13643.1			1	
FGF5	0	LGGM	GRCh37	4	81207669	81207669	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	9	27	.	.	ENST00000312465.7:c.650C>G	p.Pro217Arg	p.P217R	ENST00000312465	NM_004464.3	217	cCa/cGa	0	1	1	UPI0000039721	0	NA	ENST00000312465		ENSG00000138675	3683		36	1.04		HGNC	p.P217R		FGF5		SNV			1				ENST00000312465	protein_coding	getma.org/?cm=var&var=hg19,4,81207669,C,G&fts=all		hmmpanther:PTHR11486,hmmpanther:PTHR11486:SF23,Gene3D:2.80.10.50,SMART_domains:SM00442,Superfamily_domains:SSF50353,Prints_domain:PR00262		P/R		G	low	876/4555		getma.org/?cm=msa&ty=f&p=FGF5_HUMAN&rb=217&re=268&var=P217R	deleterious(0)	Q8NF90_HUMAN,Q8NBG6_HUMAN			YES	FGF5,missense_variant,p.Pro217Arg,ENST00000312465,NM_004464.3;FGF5,3_prime_UTR_variant,,ENST00000456523,NM_033143.2;FGF5,non_coding_transcript_exon_variant,,ENST00000503413,;FGF5,intron_variant,,ENST00000507780,;							MODERATE	650/807	P217R	FGF5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000311697		CCDS34021.1			1	
PRR4	0	LGGM	GRCh37	12	10999827	10999827	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	38	28	.	.	ENST00000228811.4:c.240C>A	p.His80Gln	p.H80Q	ENST00000228811	NM_007244.2	80	caC/caA	0	1	1	UPI0000072AC7	0	NA	ENST00000228811		ENSG00000111215	18020		66	0.63		HGNC	p.H80Q		PRR4		SNV							ENST00000228811	protein_coding	getma.org/?cm=var&var=hg19,12,10999827,G,T&fts=all		Pfam_domain:PF15240,hmmpanther:PTHR23203,hmmpanther:PTHR23203:SF9,Low_complexity_(Seg):seg		H/Q		T	neutral	278/563		getma.org/?cm=msa&ty=f&p=PROL4_HUMAN&rb=1&re=86&var=H80Q	tolerated_low_confidence(0.11)				YES	PRR4,missense_variant,p.His80Gln,ENST00000228811,NM_007244.2;PRR4,intron_variant,,ENST00000540107,;PRR4,intron_variant,,ENST00000544994,NM_001098538.2;PRR4,non_coding_transcript_exon_variant,,ENST00000536668,;PRR4,non_coding_transcript_exon_variant,,ENST00000539285,;PRR4,non_coding_transcript_exon_variant,,ENST00000535024,;PRR4,non_coding_transcript_exon_variant,,ENST00000540808,;PRR4,intron_variant,,ENST00000542881,;PRR4,intron_variant,,ENST00000538332,;PRR4,downstream_gene_variant,,ENST00000542658,;PRR4,non_coding_transcript_exon_variant,,ENST00000539179,;							MODERATE	240/405	H80Q	PROL4_HUMAN			Transcript		benign(0.402)	.	ENSP00000228811		CCDS41756.1			1	
ANKFN1	0	LGGM	GRCh37	17	54558125	54558125	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	76	31	.	.	ENST00000318698.2:c.2046G>A	p.Glu682=	p.E682=	ENST00000318698	NM_153228.2	682	gaG/gaA	0	1	1	UPI000049DE57	0		ENST00000318698		ENSG00000153930	26766		107			HGNC	p.E682E	rs762568737	ANKFN1		SNV							ENST00000566473	protein_coding			hmmpanther:PTHR21437:SF3,hmmpanther:PTHR21437		E		A		2081/2426							YES	ANKFN1,synonymous_variant,p.=,ENST00000566473,;ANKFN1,synonymous_variant,p.=,ENST00000318698,NM_153228.2;							LOW	2046/2292		ANKF1_HUMAN			Transcript			.	ENSP00000321627	8.24E-06	CCDS32686.1	0.0011		1	
DAAM2	0	LGGM	GRCh37	6	39838201	39838201	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	44	32	.	.	ENST00000398904.2:c.959A>C	p.Glu320Ala	p.E320A	ENST00000398904		320	gAa/gCa	0	1		UPI000020DC88	0	getma.org/pdb.php?prot=DAAM2_HUMAN&from=231&to=437&var=E320A	ENST00000274867		ENSG00000146122	18143		76	3.05		HGNC	p.E320A		DAAM2		SNV							ENST00000538976	protein_coding	getma.org/?cm=var&var=hg19,6,39838201,A,C&fts=all		PROSITE_profiles:PS51232,hmmpanther:PTHR23213:SF171,hmmpanther:PTHR23213,Pfam_domain:PF06367,Superfamily_domains:SSF48371		E/A		C	medium	1115/6194		getma.org/?cm=msa&ty=f&p=DAAM2_HUMAN&rb=231&re=437&var=E320A	deleterious(0.04)					DAAM2,missense_variant,p.Glu320Ala,ENST00000538976,NM_015345.3;DAAM2,missense_variant,p.Glu320Ala,ENST00000398904,;DAAM2,missense_variant,p.Glu320Ala,ENST00000274867,NM_001201427.1;DAAM2,downstream_gene_variant,,ENST00000494405,;DAAM2,upstream_gene_variant,,ENST00000491083,;							MODERATE	959/3207	E320A	DAAM2_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000274867		CCDS56426.1			1	
ABCC2	0	LGGM	GRCh37	10	101591408	101591408	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	59	36	.	.	ENST00000370449.4:c.2924G>T	p.Gly975Val	p.G975V	ENST00000370449	NM_000392.3	975	gGa/gTa	0	1	1	UPI000013D6CA	0	NA	ENST00000370449		ENSG00000023839	53		95	3.36		HGNC	p.G975V		ABCC2		SNV			1				ENST00000370449	protein_coding	getma.org/?cm=var&var=hg19,10,101591408,G,T&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,TIGRFAM_domain:TIGR00957		G/V		T	medium	3037/5312		getma.org/?cm=msa&ty=f&p=MRP2_HUMAN&rb=790&re=975&var=G975V	deleterious(0)				YES	ABCC2,missense_variant,p.Gly975Val,ENST00000370449,NM_000392.3;							MODERATE	2924/4638	G975V	MRP2_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000359478		CCDS7484.1			1	
MRVI1	0	LGGM	GRCh37	11	10626010	10626010	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	39	36	.	.	ENST00000423302.2:c.1685G>A	p.Arg562His	p.R562H	ENST00000423302	NM_130385.3	562	cGc/cAc	0	1	1	UPI0001F78343	0	NA	ENST00000423302		ENSG00000072952	7237	0.000173	75	2.44		HGNC	p.R247H	rs368966460,COSM1215535,COSM4017493	MRVI1	6.06E-05	SNV	T:0					0,1,1	ENST00000558540	protein_coding	getma.org/?cm=var&var=hg19,11,10626010,C,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF05781,hmmpanther:PTHR15352,hmmpanther:PTHR15352:SF2,Low_complexity_(Seg):seg		R/H	T:0.0001	T	medium	1835/6126	6.00E-05	getma.org/?cm=msa&ty=f&p=MRVI1_HUMAN&rb=293&re=885&var=R535H	deleterious(0)	H0YI08_HUMAN,E9PRG4_HUMAN			YES	MRVI1,missense_variant,p.Arg471His,ENST00000547195,NM_001100163.2,NM_001206881.1;MRVI1,missense_variant,p.Arg562His,ENST00000423302,NM_130385.3,NM_001206880.1;MRVI1,missense_variant,p.Arg471His,ENST00000552103,;MRVI1,missense_variant,p.Arg247His,ENST00000545852,;MRVI1,missense_variant,p.Arg553His,ENST00000421747,NM_001098579.2;MRVI1,missense_variant,p.Arg535His,ENST00000436272,;MRVI1,missense_variant,p.Arg247His,ENST00000424001,;MRVI1,missense_variant,p.Arg247His,ENST00000558540,NM_001100167.2;MRVI1,missense_variant,p.Arg554His,ENST00000531107,;MRVI1,missense_variant,p.Arg247His,ENST00000534266,;MRVI1,missense_variant,p.Arg471His,ENST00000527509,;MRVI1,missense_variant,p.Arg356His,ENST00000541483,;MRVI1-AS1,downstream_gene_variant,,ENST00000525578,;MRVI1-AS1,downstream_gene_variant,,ENST00000529979,;MRVI1-AS1,downstream_gene_variant,,ENST00000529829,;LYVE1,intron_variant,,ENST00000531706,;MRVI1,missense_variant,p.Arg305His,ENST00000526414,;MRVI1,3_prime_UTR_variant,,ENST00000529448,;					0,1,1		MODERATE	1685/2739	R535H	MRVI1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000412130	5.79E-05	CCDS55746.1			1	
SPTA1	0	LGGM	GRCh37	1	158606485	158606485	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	68	37	.	.	ENST00000368147.4:c.5256G>T	p.Leu1752=	p.L1752=	ENST00000368147	NM_003126.2	1752	ctG/ctT	0	1	1	UPI0000458906	0		ENST00000368147		ENSG00000163554	11272		105			HGNC	p.L1752L		SPTA1		SNV			1				ENST00000368147	protein_coding			Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF240,SMART_domains:SM00150,Superfamily_domains:SSF46966		L		A		5437/7999				O60686_HUMAN			YES	SPTA1,synonymous_variant,p.=,ENST00000368147,NM_003126.2;SPTA1,upstream_gene_variant,,ENST00000461624,;SPTA1,downstream_gene_variant,,ENST00000465741,;							LOW	5256/7260		SPTA1_HUMAN			Transcript			.	ENSP00000357129		CCDS41423.1			1	
USP24	0	LGGM	GRCh37	1	55598268	55598268	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	105	38	.	.	ENST00000294383.6:c.3487C>A	p.Arg1163=	p.R1163=	ENST00000294383	NM_015306.2	1163	Cga/Aga	0	1	1	UPI000059CFDE	0		ENST00000294383		ENSG00000162402	12623		143			HGNC	p.R1163R		USP24		SNV							ENST00000294383	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF349		R		T		3487/10549							YES	USP24,synonymous_variant,p.=,ENST00000294383,NM_015306.2;USP24,synonymous_variant,p.=,ENST00000407756,;							LOW	3487/7863		UBP24_HUMAN			Transcript			.	ENSP00000294383		CCDS44154.2			1	
SOCS4	0	LGGM	GRCh37	14	55509933	55509933	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	51	38	.	.	ENST00000395472.2:c.174C>T	p.Thr58=	p.T58=	ENST00000395472	NM_080867.2	58	acC/acT	0	1		UPI000000CC33	0		ENST00000339298		ENSG00000180008	19392		89			HGNC	p.T58T	rs371023809	SOCS4		SNV	G:0.0002						ENST00000339298	protein_coding			Pfam_domain:PF12610,hmmpanther:PTHR10385,hmmpanther:PTHR10385:SF29		T	G:0	T		396/6667	1.50E-05			Q5H9R6_HUMAN				SOCS4,synonymous_variant,p.=,ENST00000395472,NM_080867.2,NM_199421.1;SOCS4,synonymous_variant,p.=,ENST00000339298,;SOCS4,synonymous_variant,p.=,ENST00000555846,;							LOW	174/1323		SOCS4_HUMAN			Transcript			.	ENSP00000341327	8.24E-06	CCDS9722.1			1	
MYH1	0	LGGM	GRCh37	17	10398298	10398298	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	13	41	.	.	ENST00000226207.5:c.5416C>T	p.Gln1806Ter	p.Q1806*	ENST00000226207	NM_005963.3	1806	Cag/Tag	0	1	1	UPI000013C891	0	NA	ENST00000226207		ENSG00000109061	7567		54	0		HGNC	p.Q1806X		MYH1		SNV							ENST00000226207	protein_coding	getma.org/?cm=var&var=hg19,17,10398298,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF264,Superfamily_domains:SSF57997		Q/*		A	NA	5511/6024		NA					YES	MYH1,stop_gained,p.Gln1806Ter,ENST00000226207,NM_005963.3;CTC-297N7.11,intron_variant,,ENST00000587182,;RP11-799N11.1,intron_variant,,ENST00000399342,;RP11-799N11.1,intron_variant,,ENST00000581304,;							HIGH	5416/5820	Q1806*	MYH1_HUMAN			Transcript			.	ENSP00000226207		CCDS11155.1			1	
CENPF	0	LGGM	GRCh37	1	214832282	214832282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	75	43	.	.	ENST00000366955.3:c.9052C>A	p.Gln3018Lys	p.Q3018K	ENST00000366955	NM_016343.3	3018	Cag/Aag	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		118	1.955		HGNC	p.Q3018K		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214832282,C,A&fts=all		hmmpanther:PTHR18874		Q/K		A	medium	9220/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=3110&re=3210&var=Q3114K					YES	CENPF,missense_variant,p.Gln3018Lys,ENST00000366955,NM_016343.3;CENPF,downstream_gene_variant,,ENST00000467765,;CENPF,downstream_gene_variant,,ENST00000469862,;							MODERATE	9052/9345	Q3114K	CENPF_HUMAN			Transcript		benign(0.127)	.	ENSP00000355922		CCDS31023.1			1	
FBXO7	0	LGGM	GRCh37	22	32875102	32875102	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110669	H110669N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	71	45	.	.	ENST00000266087.7:c.257A>G	p.Asn86Ser	p.N86S	ENST00000266087	NM_012179.3	86	aAt/aGt	0	1	1	UPI000012A587	0	NA	ENST00000266087		ENSG00000100225	13586		116	1.845		HGNC	p.N86S		FBXO7		SNV			1				ENST00000266087	protein_coding	getma.org/?cm=var&var=hg19,22,32875102,A,G&fts=all		hmmpanther:PTHR15537,hmmpanther:PTHR15537:SF2,Superfamily_domains:SSF54236		N/S		G	low	584/2195		getma.org/?cm=msa&ty=f&p=FBX7_HUMAN&rb=1&re=181&var=N86S	tolerated(0.83)	F8WBR0_HUMAN,A2A282_HUMAN			YES	FBXO7,missense_variant,p.Asn86Ser,ENST00000266087,NM_012179.3;FBXO7,5_prime_UTR_variant,,ENST00000397426,NM_001257990.1;FBXO7,5_prime_UTR_variant,,ENST00000444207,;FBXO7,intron_variant,,ENST00000382058,NM_001033024.1;FBXO7,intron_variant,,ENST00000452138,;FBXO7,non_coding_transcript_exon_variant,,ENST00000465418,;FBXO7,intron_variant,,ENST00000492535,;FBXO7,intron_variant,,ENST00000425028,;FBXO7,intron_variant,,ENST00000420700,;							MODERATE	257/1569	N86S	FBX7_HUMAN			Transcript		benign(0.052)	.	ENSP00000266087		CCDS13907.1			1	
OR1F1	0	LGGM	GRCh37	16	3254571	3254571	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110669	H110669N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	17	49	.	.	ENST00000304646.2:c.325G>A	p.Asp109Asn	p.D109N	ENST00000304646	NM_012360.1	109	Gac/Aac	0	1	1	UPI00000015B4	0	getma.org/pdb.php?prot=OR1F1_HUMAN&from=1&to=138&var=D109N	ENST00000304646		ENSG00000168124	8194		66	-0.605		HGNC	p.D109N		OR1F1		SNV							ENST00000304646	protein_coding	getma.org/?cm=var&var=hg19,16,3254571,G,A&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26451:SF304,hmmpanther:PTHR26451,PROSITE_profiles:PS50262		D/N		A	neutral	325/942		getma.org/?cm=msa&ty=f&p=OR1F1_HUMAN&rb=1&re=138&var=D109N	tolerated(0.5)				YES	OR1F1,missense_variant,p.Asp109Asn,ENST00000304646,NM_012360.1;AJ003147.9,intron_variant,,ENST00000576468,;							MODERATE	325/939	D109N	OR1F1_HUMAN			Transcript		benign(0.008)	.	ENSP00000305424		CCDS10496.1			1	
OR5T3	0	LGGM	GRCh37	11	56020170	56020170	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110669	H110669N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110669N.bam, H110669T.bam	Illumina HiSeq	76	54	.	.	ENST00000303059.3:c.495C>T	p.Ser165=	p.S165=	ENST00000303059	NM_001004747.1	165	agC/agT	0	1	1	UPI0000061E96	0		ENST00000303059		ENSG00000172489	15297		130			HGNC	p.S165S		OR5T3		SNV							ENST00000303059	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF87,Superfamily_domains:SSF81321		S		T		495/1023							YES	OR5T3,synonymous_variant,p.=,ENST00000303059,NM_001004747.1;							LOW	495/1023		OR5T3_HUMAN			Transcript			.	ENSP00000305403		CCDS31524.1			1	
TIMM50	0	LGGM	GRCh37	19	39972589	39972589	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	47	3	.	.	ENST00000314349.4:c.484G>T	p.Gly162Cys	p.G162C	ENST00000314349	NM_001001563.1	162	Ggt/Tgt	0	1		UPI0000202335	0	NA	ENST00000607714		ENSG00000105197	23656		50	0.69		HGNC	p.G162C		TIMM50		SNV							ENST00000601358	protein_coding	getma.org/?cm=var&var=hg19,19,39972589,G,T&fts=all		hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF3,Low_complexity_(Seg):seg		G/C		T	neutral	197/1338		getma.org/?cm=msa&ty=f&p=TIM50_HUMAN&rb=1&re=147&var=G59C	deleterious(0.02)					TIMM50,missense_variant,p.Gly162Cys,ENST00000314349,NM_001001563.1;TIMM50,missense_variant,p.Gly59Cys,ENST00000607714,;TIMM50,missense_variant,p.Gly59Cys,ENST00000602028,;TIMM50,missense_variant,p.Gly59Cys,ENST00000601403,;TIMM50,missense_variant,p.Gly54Cys,ENST00000594583,;TIMM50,5_prime_UTR_variant,,ENST00000544017,;TIMM50,intron_variant,,ENST00000599794,;TIMM50,intron_variant,,ENST00000597666,;TIMM50,missense_variant,p.Gly59Cys,ENST00000601358,;TIMM50,missense_variant,p.Gly35Cys,ENST00000602265,;TIMM50,missense_variant,p.Gly35Cys,ENST00000599733,;TIMM50,missense_variant,p.Gly50Cys,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,;							MODERATE	175/1062	G59C	TIM50_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000475531					1	
HHLA1	0	LGGM	GRCh37	8	133083685	133083685	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	37	3	.	.	ENST00000434736.2:c.1479G>A	p.Leu493=	p.L493=	ENST00000434736		493	ctG/ctA	0	1		UPI000192B909	0		ENST00000414222		ENSG00000132297	4904		40			HGNC	p.L493L		HHLA1		SNV							ENST00000434736	protein_coding			hmmpanther:PTHR15299		L		T		1371/4105								HHLA1,synonymous_variant,p.=,ENST00000414222,NM_001145095.1;HHLA1,synonymous_variant,p.=,ENST00000434736,;OC90,intron_variant,,ENST00000262283,;HHLA1,non_coding_transcript_exon_variant,,ENST00000473291,;							LOW	1371/1596		HHLA1_HUMAN			Transcript			.	ENSP00000388322					1	
SRGAP1	0	LGGM	GRCh37	12	64472889	64472889	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	31	3	.	.	ENST00000355086.3:c.1316A>G	p.Tyr439Cys	p.Y439C	ENST00000355086	NM_020762.2	439	tAc/tGc	0	1	1	UPI00001A9CB9	0	NA	ENST00000355086		ENSG00000196935	17382		34	2.395		HGNC	p.Y439C	rs777173697	SRGAP1	6.13E-05	SNV							ENST00000357825	protein_coding	getma.org/?cm=var&var=hg19,12,64472889,A,G&fts=all		hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15		Y/C		G	medium	1840/8943		getma.org/?cm=msa&ty=f&p=SRGP1_HUMAN&rb=322&re=519&var=Y439C	deleterious(0)				YES	SRGAP1,missense_variant,p.Tyr439Cys,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.Tyr439Cys,ENST00000357825,;SRGAP1,missense_variant,p.Tyr399Cys,ENST00000543397,;RP11-196H14.2,intron_variant,,ENST00000535594,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537556,;							MODERATE	1316/3258	Y439C	SRGP1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000347198	8.24E-06	CCDS8967.1			1	
RFTN2	0	LGGM	GRCh37	2	198498685	198498685	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	40	3	.	.	ENST00000295049.4:c.475G>T	p.Gly159Ter	p.G159*	ENST00000295049	NM_144629.2	159	Gga/Tga	0	1	1	UPI000013E1F9	0	NA	ENST00000295049		ENSG00000162944	26402		43	0		HGNC	p.G159X		RFTN2		SNV							ENST00000295049	protein_coding	getma.org/?cm=var&var=hg19,2,198498685,C,A&fts=all		hmmpanther:PTHR17601,hmmpanther:PTHR17601:SF1,Pfam_domain:PF15250		G/*		A	NA	1012/5827		NA		C9J6C2_HUMAN			YES	RFTN2,stop_gained,p.Gly159Ter,ENST00000295049,NM_144629.2;							HIGH	475/1506	G159*	RFTN2_HUMAN			Transcript			.	ENSP00000295049		CCDS2323.1			1	
CIC	0	LGGM	GRCh37	19	42797111	42797111	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	29	3	.	.	ENST00000575354.2:c.3473G>T	p.Gly1158Val	p.G1158V	ENST00000575354	NM_015125.3	1158	gGt/gTt	0	1	1	UPI000013C5A0	0	NA	ENST00000575354		ENSG00000079432	14214		32	0		HGNC	p.G1158V		CIC		SNV							ENST00000160740	protein_coding	getma.org/?cm=var&var=hg19,19,42797111,G,T&fts=all		hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059,Prints_domain:PR01217		G/V		T	neutral	3513/5473		getma.org/?cm=msa&ty=f&p=CIC_HUMAN&rb=292&re=1606&var=G1158V					YES	CIC,missense_variant,p.Gly2065Val,ENST00000572681,;CIC,missense_variant,p.Gly1156Val,ENST00000160740,;CIC,missense_variant,p.Gly1158Val,ENST00000575354,NM_015125.3;CIC,upstream_gene_variant,,ENST00000576505,;PAFAH1B3,downstream_gene_variant,,ENST00000538771,NM_001145940.1,NM_001145939.1;PAFAH1B3,downstream_gene_variant,,ENST00000262890,NM_002573.3;CIC,upstream_gene_variant,,ENST00000573349,;PAFAH1B3,downstream_gene_variant,,ENST00000594989,;PAFAH1B3,downstream_gene_variant,,ENST00000595530,;PAFAH1B3,downstream_gene_variant,,ENST00000596265,;CIC,upstream_gene_variant,,ENST00000575287,;CIC,upstream_gene_variant,,ENST00000571033,;							MODERATE	3473/4827	G1158V	CIC_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000458663		CCDS12601.1			1	
LRCH3	0	LGGM	GRCh37	3	197547217	197547217	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	44	3	.	.	ENST00000334859.4:c.556C>A	p.Gln186Lys	p.Q186K	ENST00000334859	NM_032773.2	186	Caa/Aaa	0	1		UPI000021D348	0	getma.org/pdb.php?prot=LRCH3_HUMAN&from=151&to=208&var=Q186K	ENST00000425562		ENSG00000186001	28637		47	0.845		HGNC	p.Q186K	COSM1422110	LRCH3		SNV						1	ENST00000414675	protein_coding	getma.org/?cm=var&var=hg19,3,197547217,C,A&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR23155,hmmpanther:PTHR23155:SF423,SMART_domains:SM00364,SMART_domains:SM00369,Superfamily_domains:SSF52058		Q/K		A	low	556/2970		getma.org/?cm=msa&ty=f&p=LRCH3_HUMAN&rb=151&re=208&var=Q186K	deleterious(0.03)	F5H3V2_HUMAN				LRCH3,missense_variant,p.Gln186Lys,ENST00000438796,;LRCH3,missense_variant,p.Gln186Lys,ENST00000425562,;LRCH3,missense_variant,p.Gln186Lys,ENST00000414675,;LRCH3,missense_variant,p.Gln186Lys,ENST00000334859,NM_032773.2;LRCH3,intron_variant,,ENST00000441090,;LRCH3,non_coding_transcript_exon_variant,,ENST00000493726,;LRCH3,3_prime_UTR_variant,,ENST00000443727,;					1		MODERATE	556/2334	Q186K	LRCH3_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000393579					1	
FAAH2	0	LGGM	GRCh37	X	57318995	57318995	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	39	3	.	.	ENST00000374900.4:c.257A>G	p.Asn86Ser	p.N86S	ENST00000374900	NM_174912.3	86	aAt/aGt	0	1	1	UPI000004CC6F	0	getma.org/pdb.php?prot=FAAH2_HUMAN&from=69&to=513&var=N86S	ENST00000374900		ENSG00000165591	26440		42	3.745		HGNC	p.N86S		FAAH2		SNV							ENST00000374900	protein_coding	getma.org/?cm=var&var=hg19,X,57318995,A,G&fts=all		Gene3D:3.90.1300.10,Pfam_domain:PF01425,hmmpanther:PTHR11895,hmmpanther:PTHR11895:SF66,Superfamily_domains:SSF75304		N/S		G	high	377/1983		getma.org/?cm=msa&ty=f&p=FAAH2_HUMAN&rb=69&re=513&var=N86S	deleterious(0)	B2C6G4_HUMAN			YES	FAAH2,missense_variant,p.Asn86Ser,ENST00000374900,NM_174912.3;							MODERATE	257/1599	N86S	FAAH2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000364035		CCDS14375.1			1	
IL1R1	0	LGGM	GRCh37	2	102781760	102781760	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	26	3	.	.	ENST00000410023.1:c.482A>G	p.Tyr161Cys	p.Y161C	ENST00000410023		161	tAt/tGt	0	1	1	UPI0000034759	0	getma.org/pdb.php?prot=IL1R1_HUMAN&from=125&to=213&var=Y161C	ENST00000410023		ENSG00000115594	5993		29	3.13		HGNC	p.Y161C		IL1R1		SNV							ENST00000409589	protein_coding	getma.org/?cm=var&var=hg19,2,102781760,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF19,SMART_domains:SM00409,Superfamily_domains:SSF48726		Y/C		G	medium	800/5143		getma.org/?cm=msa&ty=f&p=IL1R1_HUMAN&rb=125&re=213&var=Y161C	deleterious(0)	C9JWB2_HUMAN,C9JW84_HUMAN,C9JQ36_HUMAN,C9J686_HUMAN,C9J3W8_HUMAN			YES	IL1R1,missense_variant,p.Tyr161Cys,ENST00000410023,;IL1R1,missense_variant,p.Tyr161Cys,ENST00000233946,NM_000877.2;IL1R1,missense_variant,p.Tyr161Cys,ENST00000409589,;IL1R1,missense_variant,p.Tyr161Cys,ENST00000424272,;IL1R1,missense_variant,p.Tyr161Cys,ENST00000409329,;IL1R1,missense_variant,p.Tyr161Cys,ENST00000409929,;IL1R1,missense_variant,p.Tyr161Cys,ENST00000409288,;IL1R1,missense_variant,p.Tyr17Cys,ENST00000428279,;IL1R1,missense_variant,p.Tyr161Cys,ENST00000430171,;IL1R1,downstream_gene_variant,,ENST00000452403,;IL1R1,downstream_gene_variant,,ENST00000442590,;IL1R1,downstream_gene_variant,,ENST00000450319,;IL1R1,missense_variant,p.Ile103Val,ENST00000422532,;IL1R1,intron_variant,,ENST00000413623,;							MODERATE	482/1710	Y161C	IL1R1_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000386380		CCDS2055.1			1	
CABP1	0	LGGM	GRCh37	12	121093790	121093790	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	27	3	.	.	ENST00000316803.3:c.655-3891T>C		*219*	ENST00000316803	NM_001033677.1			0	1	1	UPI00005B3D8A	0		ENST00000316803		ENSG00000157782	1384		30			HGNC	p.T59T		CABP1		SNV							ENST00000453000	protein_coding							C		-/1658							YES	CABP1,synonymous_variant,p.=,ENST00000453000,;CABP1,intron_variant,,ENST00000316803,NM_001033677.1;CABP1,intron_variant,,ENST00000288616,NM_031205.3;CABP1,intron_variant,,ENST00000351200,NM_004276.4;CABP1,upstream_gene_variant,,ENST00000498082,;							MODIFIER	-/1113		CABP1_HUMAN			Transcript			.	ENSP00000317310		CCDS31913.1			1	
PDE6B	0	LGGM	GRCh37	4	647783	647783	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	37	4	.	.	ENST00000496514.1:c.852+2T>C		p.X284_splice	ENST00000496514				0	1	1	UPI0000DBEE72	0		ENST00000496514		ENSG00000133256	8786		41			HGNC	-		PDE6B		SNV			1				ENST00000255622	protein_coding							C		-/3232				H7C4P9_HUMAN,C9J628_HUMAN			YES	PDE6B,splice_donor_variant,,ENST00000255622,NM_000283.3,NM_001145291.1;PDE6B,splice_donor_variant,,ENST00000496514,;PDE6B,splice_donor_variant,,ENST00000429163,NM_001145292.1;PDE6B,splice_donor_variant,,ENST00000488061,;PDE6B,splice_donor_variant,,ENST00000487902,;PDE6B,splice_donor_variant,,ENST00000465426,;RP11-1191J2.2,intron_variant,,ENST00000468356,;RP11-1191J2.2,intron_variant,,ENST00000489312,;RP11-1191J2.2,upstream_gene_variant,,ENST00000599030,;RP11-1191J2.2,upstream_gene_variant,,ENST00000598370,;PDE6B,splice_donor_variant,,ENST00000476034,;PDE6B,splice_donor_variant,,ENST00000467152,;PDE6B,splice_donor_variant,,ENST00000474251,;							HIGH	852/2565		PDE6B_HUMAN			Transcript			.	ENSP00000420295		CCDS33932.1			1	
HIST1H2AC	0	LGGM	GRCh37	6	26124646	26124646	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	31	4	.	.	ENST00000602637.1:c.186G>T	p.Glu62Asp	p.E62D	ENST00000602637		62	gaG/gaT	0	1		UPI0000000DB8	0	getma.org/pdb.php?prot=H2A1C_HUMAN&from=18&to=91&var=E62D	ENST00000314088		ENSG00000180573	4733		35	3.505		HGNC	p.E62D	COSM1076705	HIST1H2AC		SNV						1	ENST00000314088	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,6,26124646,G,T&fts=all		hmmpanther:PTHR23430,hmmpanther:PTHR23430:SF24,Gene3D:1.10.20.10,Pfam_domain:PF00125,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620		E/D		T	high	274/1668		getma.org/?cm=msa&ty=f&p=H2A1C_HUMAN&rb=18&re=91&var=E62D	deleterious_low_confidence(0.02)					HIST1H2AC,missense_variant,p.Glu62Asp,ENST00000602637,;HIST1H2AC,missense_variant,p.Glu62Asp,ENST00000377791,NM_003512.3;HIST1H2BC,upstream_gene_variant,,ENST00000314332,;HIST1H2BC,upstream_gene_variant,,ENST00000396984,NM_003526.2;HIST1H2AC,missense_variant,p.Glu62Asp,ENST00000314088,;					1		MODERATE	186/393	E62D	H2A1C_HUMAN			Transcript		benign(0.008)	.	ENSP00000321389		CCDS4585.1			1	
SCAMP2	0	LGGM	GRCh37	15	75140980	75140980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	31	4	.	.	ENST00000268099.9:c.695A>G	p.Tyr232Cys	p.Y232C	ENST00000268099	NM_005697.3	232	tAc/tGc	0	1	1	UPI00001355FD	0	NA	ENST00000268099		ENSG00000140497	10564		35	1.48		HGNC	p.Y232C		SCAMP2		SNV							ENST00000268099	protein_coding	getma.org/?cm=var&var=hg19,15,75140980,T,C&fts=all		Pfam_domain:PF04144,hmmpanther:PTHR10687,hmmpanther:PTHR10687:SF7,Transmembrane_helices:TMhelix		Y/C		C	low	805/2453		getma.org/?cm=msa&ty=f&p=SCAM2_HUMAN&rb=116&re=294&var=Y232C	tolerated(0.07)	H3BMN2_HUMAN			YES	SCAMP2,missense_variant,p.Tyr192Cys,ENST00000566480,;SCAMP2,missense_variant,p.Tyr232Cys,ENST00000268099,NM_005697.3;SCAMP2,missense_variant,p.Tyr82Cys,ENST00000565345,;SCAMP2,downstream_gene_variant,,ENST00000564529,;SCAMP2,downstream_gene_variant,,ENST00000562363,;SCAMP2,synonymous_variant,p.=,ENST00000569904,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000563829,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000569251,;SCAMP2,non_coding_transcript_exon_variant,,ENST00000567638,;SCAMP2,intron_variant,,ENST00000563663,;SCAMP2,downstream_gene_variant,,ENST00000566557,;							MODERATE	695/990	Y232C	SCAM2_HUMAN			Transcript		benign(0.049)	.	ENSP00000268099		CCDS10271.1			1	
TGFBR3	0	LGGM	GRCh37	1	92262932	92262932	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	73	4	.	.	ENST00000212355.4:c.158C>G	p.Ala53Gly	p.A53G	ENST00000212355	NM_001195683.1	53	gCc/gGc	0	1	1	UPI000049D997	0	NA	ENST00000212355		ENSG00000069702	11774		77	1.995		HGNC	p.A53G		TGFBR3		SNV			1				ENST00000465892	protein_coding	getma.org/?cm=var&var=hg19,1,92262932,G,C&fts=all		hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5		A/G		C	medium	624/6416		getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=21&re=414&var=A53G	deleterious(0.01)	E9PAW7_HUMAN			YES	TGFBR3,missense_variant,p.Ala53Gly,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ala53Gly,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ala53Gly,ENST00000525962,;TGFBR3,missense_variant,p.Ala53Gly,ENST00000465892,;TGFBR3,downstream_gene_variant,,ENST00000417833,;TGFBR3,missense_variant,p.Ala53Gly,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;							MODERATE	158/2556	A53G	TGBR3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000212355		CCDS30770.1			1	
TACR2	0	LGGM	GRCh37	10	71164706	71164706	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	16	5	.	.	ENST00000373306.4:c.1073T>C	p.Phe358Ser	p.F358S	ENST00000373306	NM_001057.2	358	tTc/tCc	0	1	1	UPI0000061EE3	0	NA	ENST00000373306		ENSG00000075073	11527		21	2.095		HGNC	p.F358S		TACR2		SNV							ENST00000373306	protein_coding	getma.org/?cm=var&var=hg19,10,71164706,A,G&fts=all		Prints_domain:PR01025		F/S		G	medium	1617/2083		getma.org/?cm=msa&ty=f&p=NK2R_HUMAN&rb=308&re=398&var=F358S	tolerated(0.38)	A6NEW7_HUMAN			YES	TACR2,missense_variant,p.Phe358Ser,ENST00000373306,NM_001057.2;TACR2,missense_variant,p.Phe146Ser,ENST00000373307,;HK1,downstream_gene_variant,,ENST00000448642,;HK1,downstream_gene_variant,,ENST00000360289,NM_033498.2,NM_033500.2,NM_033497.2;HK1,downstream_gene_variant,,ENST00000359426,NM_000188.2;HK1,downstream_gene_variant,,ENST00000298649,NM_033496.2;HK1,downstream_gene_variant,,ENST00000404387,;HK1,downstream_gene_variant,,ENST00000470050,;							MODERATE	1073/1197	F358S	NK2R_HUMAN			Transcript		benign(0.003)	.	ENSP00000362403		CCDS7293.1			1	
KCNT2	0	LGGM	GRCh37	1	196274433	196274433	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	25	5	.	.	ENST00000294725.9:c.2526C>T	p.Pro842=	p.P842=	ENST00000294725		842	ccC/ccT	0	1	1	UPI00001E0966	0		ENST00000294725		ENSG00000162687	18866		30			HGNC	p.P842P	rs371248112	KCNT2	6.06E-05	SNV	A:0						ENST00000294725	protein_coding			Gene3D:3.40.50.720,hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF9		P	A:0.0001	A		3442/4409	3.01E-05			A9LNM6_HUMAN			YES	KCNT2,synonymous_variant,p.=,ENST00000367433,NM_198503.2,NM_001287819.1;KCNT2,synonymous_variant,p.=,ENST00000367431,;KCNT2,synonymous_variant,p.=,ENST00000294725,;KCNT2,synonymous_variant,p.=,ENST00000609185,;KCNT2,intron_variant,,ENST00000451324,;KCNT2,non_coding_transcript_exon_variant,,ENST00000498426,;KCNT2,non_coding_transcript_exon_variant,,ENST00000610076,;	0.000116						LOW	2526/3408		KCNT2_HUMAN			Transcript			.	ENSP00000294725	3.29E-05	CCDS1384.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186915882	186915882	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	63	5	.	.	ENST00000367466.3:c.1147G>A	p.Glu383Lys	p.E383K	ENST00000367466	NM_024420.2	383	Gaa/Aaa	0	1	1	UPI0000203D76	0	getma.org/pdb.php?prot=PA24A_HUMAN&from=190&to=675&var=E383K	ENST00000367466		ENSG00000116711	9035		68	3.165		HGNC	p.E323K		PLA2G4A		SNV							ENST00000442353	protein_coding	getma.org/?cm=var&var=hg19,1,186915882,G,A&fts=all		Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00022,Superfamily_domains:SSF52151		E/K		A	medium	1299/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=190&re=675&var=E383K	deleterious(0)				YES	PLA2G4A,missense_variant,p.Glu383Lys,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Glu323Lys,ENST00000442353,;							MODERATE	1147/2250	E383K	PA24A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356436		CCDS1372.1			1	
TGFBR3	0	LGGM	GRCh37	1	92262933	92262933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	73	5	.	.	ENST00000212355.4:c.157G>T	p.Ala53Ser	p.A53S	ENST00000212355	NM_001195683.1	53	Gcc/Tcc	0	1	1	UPI000049D997	0	NA	ENST00000212355		ENSG00000069702	11774		78	1.995		HGNC	p.A53S		TGFBR3		SNV			1				ENST00000465892	protein_coding	getma.org/?cm=var&var=hg19,1,92262933,C,A&fts=all		hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5		A/S		A	medium	623/6416		getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=21&re=414&var=A53S	deleterious(0.01)	E9PAW7_HUMAN			YES	TGFBR3,missense_variant,p.Ala53Ser,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ala53Ser,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ala53Ser,ENST00000525962,;TGFBR3,missense_variant,p.Ala53Ser,ENST00000465892,;TGFBR3,downstream_gene_variant,,ENST00000417833,;TGFBR3,missense_variant,p.Ala53Ser,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;							MODERATE	157/2556	A53S	TGBR3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000212355		CCDS30770.1			1	
SLC52A2	0	LGGM	GRCh37	8	145584569	145584569	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	63	5	.	.	ENST00000532887.1:c.1232C>T	p.Ala411Val	p.A411V	ENST00000532887		411	gCc/gTc	0	1		UPI000004470A	0	NA	ENST00000329994		ENSG00000185803	30224		68	0.6		HGNC	p.A411V		SLC52A2		SNV			1				ENST00000532887	protein_coding	getma.org/?cm=var&var=hg19,8,145584569,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12929:SF5,hmmpanther:PTHR12929		A/V		T	neutral	1533/1896		getma.org/?cm=msa&ty=f&p=RFT3_HUMAN&rb=372&re=445&var=A411V	tolerated(0.83)	F5GXA8_HUMAN,E9PRC3_HUMAN,E9PIX2_HUMAN				SLC52A2,missense_variant,p.Ala411Val,ENST00000532887,;SLC52A2,missense_variant,p.Ala411Val,ENST00000329994,NM_024531.4;SLC52A2,missense_variant,p.Ala411Val,ENST00000527078,;SLC52A2,missense_variant,p.Ala411Val,ENST00000402965,NM_001253815.1;SLC52A2,missense_variant,p.Ala411Val,ENST00000530047,NM_001253816.1;SLC52A2,missense_variant,p.Ala323Val,ENST00000540505,;SLC52A2,synonymous_variant,p.=,ENST00000526752,;FBXL6,upstream_gene_variant,,ENST00000331890,NM_012162.3;FBXL6,upstream_gene_variant,,ENST00000455319,NM_024555.5;SLC52A2,downstream_gene_variant,,ENST00000534725,;SLC52A2,downstream_gene_variant,,ENST00000526338,;SLC52A2,downstream_gene_variant,,ENST00000524541,;FBXL6,upstream_gene_variant,,ENST00000526524,;FBXL6,upstream_gene_variant,,ENST00000527000,;SLC52A2,downstream_gene_variant,,ENST00000526891,;SLC52A2,downstream_gene_variant,,ENST00000532815,;FBXL6,upstream_gene_variant,,ENST00000530687,;FBXL6,upstream_gene_variant,,ENST00000524909,;FBXL6,upstream_gene_variant,,ENST00000530142,;FBXL6,upstream_gene_variant,,ENST00000524492,;SLC52A2,downstream_gene_variant,,ENST00000533662,;SLC52A2,downstream_gene_variant,,ENST00000526779,;FBXL6,upstream_gene_variant,,ENST00000529279,;							MODERATE	1232/1338	A411V	S52A2_HUMAN			Transcript		benign(0.056)	.	ENSP00000333638		CCDS6423.1			1	
CLCA4	0	LGGM	GRCh37	1	87031620	87031620	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	71	5	.	.	ENST00000370563.3:c.871C>G	p.Pro291Ala	p.P291A	ENST00000370563	NM_012128.3	291	Cca/Gca	0	1	1	UPI00000389E8	0	NA	ENST00000370563		ENSG00000016602	2018		76	1.32		HGNC	p.P291A		CLCA4		SNV			1				ENST00000370563	protein_coding	getma.org/?cm=var&var=hg19,1,87031620,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,TIGRFAM_domain:TIGR00868		P/A		G	low	913/3211		getma.org/?cm=msa&ty=f&p=CLCA4_HUMAN&rb=263&re=306&var=P291A	tolerated(0.18)	Q9NXP1_HUMAN			YES	CLCA4,missense_variant,p.Pro291Ala,ENST00000370563,NM_012128.3;CLCA4,missense_variant,p.Pro4Ala,ENST00000263723,;							MODERATE	871/2760	P291A	CLCA4_HUMAN			Transcript		benign(0.013)	.	ENSP00000359594		CCDS41355.1			1	
RYR2	0	LGGM	GRCh37	1	237527673	237527673	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	51	6	.	.	ENST00000366574.2:c.309+1G>A		p.X103_splice	ENST00000366574	NM_001035.2			0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		57			HGNC	-		RYR2		SNV			1				ENST00000366574	protein_coding							A		-/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,splice_donor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_donor_variant,,ENST00000542537,;RYR2,intron_variant,,ENST00000360064,;							HIGH	309/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
ZNF382	0	LGGM	GRCh37	19	37117619	37117619	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	64	6	.	.	ENST00000292928.2:c.820G>T	p.Gly274Trp	p.G274W	ENST00000292928	NM_032825.4	274	Ggg/Tgg	0	1	1	UPI000013E0E2	0	getma.org/pdb.php?prot=ZN382_HUMAN&from=248&to=309&var=G274W	ENST00000292928		ENSG00000161298	17409		70	3.505		HGNC	p.G274W		ZNF382		SNV							ENST00000292928	protein_coding	getma.org/?cm=var&var=hg19,19,37117619,G,T&fts=all		hmmpanther:PTHR24404,hmmpanther:PTHR24404:SF22,Superfamily_domains:SSF57667		G/W		T	high	933/2813		getma.org/?cm=msa&ty=f&p=ZN382_HUMAN&rb=248&re=309&var=G274W	deleterious(0)	K7EK67_HUMAN,C9JME7_HUMAN			YES	ZNF382,missense_variant,p.Gly273Trp,ENST00000435416,;ZNF382,missense_variant,p.Gly274Trp,ENST00000292928,NM_032825.4,NM_001256838.1;ZNF382,missense_variant,p.Gly273Trp,ENST00000439428,;ZNF382,missense_variant,p.Gly225Trp,ENST00000423582,;ZNF382,downstream_gene_variant,,ENST00000590785,;CTD-3234P18.2,upstream_gene_variant,,ENST00000585467,;							MODERATE	820/1653	G274W	ZN382_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000292928		CCDS33004.1			1	
ALMS1	0	LGGM	GRCh37	2	73836708	73836708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	25	6	.	.	ENST00000264448.6:c.12473A>G	p.Gln4158Arg	p.Q4158R	ENST00000264448	NM_015120.4	4158	cAa/cGa	0	1	1	UPI0000212786	0	NA	ENST00000264448		ENSG00000116127	428		31	1.04		HGNC	p.Q4158R		ALMS1		SNV			1				ENST00000264448	protein_coding	getma.org/?cm=var&var=hg19,2,73836708,A,G&fts=all		hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23,Pfam_domain:PF15309		Q/R		G	low	12584/12922		getma.org/?cm=msa&ty=f&p=ALMS1_HUMAN&rb=49&re=4165&var=Q4158R		A6NMY3_HUMAN			YES	ALMS1,missense_variant,p.Gln4158Arg,ENST00000264448,NM_015120.4;ALMS1,missense_variant,p.Gln4116Arg,ENST00000409009,;ALMS1,non_coding_transcript_exon_variant,,ENST00000490821,;ALMS1,downstream_gene_variant,,ENST00000464408,;							MODERATE	12473/12504	Q4158R	ALMS1_HUMAN			Transcript		benign(0.206)	.	ENSP00000264448		CCDS42697.1			1	
ARHGAP10	0	LGGM	GRCh37	4	148887916	148887916	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	61	6	.	.	ENST00000336498.3:c.1642G>A	p.Glu548Lys	p.E548K	ENST00000336498	NM_024605.3	548	Gaa/Aaa	0	1	1	UPI000013EA63	0	getma.org/pdb.php?prot=RHG10_HUMAN&from=397&to=551&var=E548K	ENST00000336498		ENSG00000071205	26099		67	2.895		HGNC	p.E548K		ARHGAP10		SNV							ENST00000336498	protein_coding	getma.org/?cm=var&var=hg19,4,148887916,G,A&fts=all		PROSITE_profiles:PS50238,hmmpanther:PTHR12552,hmmpanther:PTHR12552:SF5,Gene3D:1.10.555.10,Pfam_domain:PF00620,SMART_domains:SM00324,Superfamily_domains:SSF48350		E/K		A	medium	1881/3299		getma.org/?cm=msa&ty=f&p=RHG10_HUMAN&rb=397&re=551&var=E548K	deleterious(0)	Q8ND72_HUMAN,Q3KQX3_HUMAN			YES	ARHGAP10,missense_variant,p.Glu548Lys,ENST00000336498,NM_024605.3;ARHGAP10,missense_variant,p.Glu226Lys,ENST00000507661,;ARHGAP10,missense_variant,p.Glu197Lys,ENST00000414545,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506054,;ARHGAP10,non_coding_transcript_exon_variant,,ENST00000506020,;							MODERATE	1642/2361	E548K	RHG10_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000336923		CCDS34075.1			1	
CYP39A1	0	LGGM	GRCh37	6	46563767	46563767	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	65	6	.	.	ENST00000275016.2:c.1022C>T	p.Pro341Leu	p.P341L	ENST00000275016	NM_001278739.1	341	cCt/cTt	0	1	1	UPI000013DA3D	0	getma.org/pdb.php?prot=CP39A_HUMAN&from=29&to=463&var=P341L	ENST00000275016		ENSG00000146233	17449		71	2.17		HGNC	p.P341L		CYP39A1		SNV							ENST00000275016	protein_coding	getma.org/?cm=var&var=hg19,6,46563767,G,A&fts=all		hmmpanther:PTHR24304,hmmpanther:PTHR24304:SF4,Pfam_domain:PF00067,Gene3D:1.10.630.10,PIRSF_domain:PIRSF000047,Superfamily_domains:SSF48264,Prints_domain:PR00465		P/L		A	medium	1226/2176		getma.org/?cm=msa&ty=f&p=CP39A_HUMAN&rb=29&re=463&var=P341L	deleterious(0.02)				YES	CYP39A1,missense_variant,p.Pro341Leu,ENST00000275016,NM_001278739.1,NM_001278738.1,NM_016593.4;CYP39A1,non_coding_transcript_exon_variant,,ENST00000480804,;							MODERATE	1022/1410	P341L	CP39A_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000275016		CCDS4916.1			1	
APOH	0	LGGM	GRCh37	17	64224297	64224297	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	64	6	.	.	ENST00000205948.6:c.82G>T	p.Asp28Tyr	p.D28Y	ENST00000205948	NM_000042.2	28	Gat/Tat	0	1	1	UPI0000125CAA	0	getma.org/pdb.php?prot=APOH_HUMAN&from=23&to=79&var=D28Y	ENST00000205948		ENSG00000091583	616		70	1.795		HGNC	p.D28Y		APOH		SNV							ENST00000205948	protein_coding	getma.org/?cm=var&var=hg19,17,64224297,C,A&fts=all		Superfamily_domains:SSF57535,SMART_domains:SM00032,Pfam_domain:PF00084,Gene3D:2.10.70.10,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF46,PROSITE_profiles:PS50923		D/Y		A	low	120/1176		getma.org/?cm=msa&ty=f&p=APOH_HUMAN&rb=23&re=79&var=D28Y	deleterious(0.01)	J3QRN2_HUMAN,J3QLI0_HUMAN,D9IWP9_HUMAN			YES	APOH,missense_variant,p.Asp28Tyr,ENST00000205948,NM_000042.2;APOH,missense_variant,p.Asp28Tyr,ENST00000577982,;APOH,5_prime_UTR_variant,,ENST00000581797,;							MODERATE	82/1038	D28Y	APOH_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000205948		CCDS11663.1			1	
ZNF645	0	LGGM	GRCh37	X	22292159	22292159	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	47	6	.	.	ENST00000323684.1:c.1051T>C	p.Ser351Pro	p.S351P	ENST00000323684	NM_152577.3	351	Tct/Cct	0	1	1	UPI0000073BD5	0	NA	ENST00000323684		ENSG00000175809	26371		53	-0.695		HGNC	p.S351P		ZNF645		SNV							ENST00000323684	protein_coding	getma.org/?cm=var&var=hg19,X,22292159,T,C&fts=all		hmmpanther:PTHR13480,hmmpanther:PTHR13480:SF1		S/P		C	neutral	1095/1510		getma.org/?cm=msa&ty=f&p=ZN645_HUMAN&rb=201&re=400&var=S351P	tolerated(1)				YES	ZNF645,missense_variant,p.Ser351Pro,ENST00000323684,NM_152577.3;RP11-40F8.2,intron_variant,,ENST00000608254,;							MODERATE	1051/1278	S351P	ZN645_HUMAN			Transcript		benign(0.001)	.	ENSP00000323348		CCDS14205.1			1	
STX7	0	LGGM	GRCh37	6	132824592	132824592	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	42	6	.	.	ENST00000367941.2:c.78A>G	p.Thr26=	p.T26=	ENST00000367941	NM_003569.2	26	acA/acG	0	1	1	UPI0000136167	0		ENST00000367941		ENSG00000079950	11442		48			HGNC	p.T26T		STX7		SNV							ENST00000448348	protein_coding			Gene3D:1.20.58.70,Pfam_domain:PF14523,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF90,SMART_domains:SM00503,Superfamily_domains:SSF47661		T		C		192/15791							YES	STX7,synonymous_variant,p.=,ENST00000367941,NM_003569.2;STX7,synonymous_variant,p.=,ENST00000367937,;STX7,non_coding_transcript_exon_variant,,ENST00000448348,;STX7,non_coding_transcript_exon_variant,,ENST00000475879,;							LOW	78/786		STX7_HUMAN			Transcript			.	ENSP00000356918		CCDS5153.1			1	
RYR2	0	LGGM	GRCh37	1	237519263	237519263	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	52	7	.	.	ENST00000366574.2:c.274-2A>T		p.X92_splice	ENST00000366574	NM_001035.2			0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		59			HGNC	-		RYR2		SNV			1				ENST00000366574	protein_coding							T		-/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,splice_acceptor_variant,,ENST00000366574,NM_001035.2;RYR2,splice_acceptor_variant,,ENST00000542537,;RYR2,intron_variant,,ENST00000360064,;							HIGH	274/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
CXorf67	0	LGGM	GRCh37	X	51151359	51151359	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	26	7	.	.	ENST00000342995.2:c.1491C>A	p.Pro497=	p.P497=	ENST00000342995		497	ccC/ccA	0	1	1	UPI000000DB6D	0		ENST00000342995		ENSG00000187690	33738		33			HGNC	p.P497P		CXorf67		SNV							ENST00000342995	protein_coding			hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0		P		A		1593/1921							YES	CXorf67,synonymous_variant,p.=,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;							LOW	1491/1512		CX067_HUMAN			Transcript			.	ENSP00000342680					1	
SEC14L1	0	LGGM	GRCh37	17	75201414	75201414	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	46	7	.	.	ENST00000392476.2:c.1155T>C	p.Phe385=	p.F385=	ENST00000392476	NM_001204408.1	385	ttT/ttC	0	1		UPI000013D328	0		ENST00000430767		ENSG00000129657	10698		53			HGNC	p.F351F	rs368590338	SEC14L1		SNV	C:0.0002			9.61E-05			ENST00000591437	protein_coding			Gene3D:3.40.525.10,Pfam_domain:PF00650,PROSITE_profiles:PS50191,hmmpanther:PTHR23324,hmmpanther:PTHR23324:SF51,SMART_domains:SM00516,Superfamily_domains:SSF52087		F	C:0	C		1511/5283				K7EQK4_HUMAN,K7ELU0_HUMAN,K7ELM0_HUMAN,K7EJ08_HUMAN,B4E0D1_HUMAN,B4DEZ7_HUMAN				SEC14L1,synonymous_variant,p.=,ENST00000413679,NM_001143999.1,NM_003003.3,NM_001143998.1;SEC14L1,synonymous_variant,p.=,ENST00000436233,;SEC14L1,synonymous_variant,p.=,ENST00000430767,NM_001204410.1;SEC14L1,synonymous_variant,p.=,ENST00000392476,NM_001204408.1;SEC14L1,synonymous_variant,p.=,ENST00000443798,NM_001039573.2;SEC14L1,synonymous_variant,p.=,ENST00000591437,;SEC14L1,synonymous_variant,p.=,ENST00000585618,;SEC14L1,synonymous_variant,p.=,ENST00000431431,NM_001144001.1;SEC14L1,synonymous_variant,p.=,ENST00000589827,;SEC14L1,upstream_gene_variant,,ENST00000588488,;SEC14L1,non_coding_transcript_exon_variant,,ENST00000587821,;SEC14L1,upstream_gene_variant,,ENST00000587491,;							LOW	1155/2148		S14L1_HUMAN			Transcript			.	ENSP00000408169	8.24E-06	CCDS11752.1			1	
CNOT4	0	LGGM	GRCh37	7	135107012	135107012	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	79	7	.	.	ENST00000541284.1:c.265A>G	p.Arg89Gly	p.R89G	ENST00000541284	NM_001190849.1	89	Aga/Gga	0	1		UPI000020FB5C	0	NA	ENST00000315544		ENSG00000080802	7880		86	2.155		HGNC	p.R89G		CNOT4		SNV							ENST00000414802	protein_coding	getma.org/?cm=var&var=hg19,7,135107012,T,C&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12603:SF2,hmmpanther:PTHR12603		R/G		C	medium	545/4631		getma.org/?cm=msa&ty=f&p=CNOT4_HUMAN&rb=1&re=129&var=R89G	tolerated(0.06)					CNOT4,missense_variant,p.Arg89Gly,ENST00000428680,NM_001008225.2;CNOT4,missense_variant,p.Arg89Gly,ENST00000315544,NM_001190848.1;CNOT4,missense_variant,p.Arg89Gly,ENST00000541284,NM_001190849.1,NM_001190850.1;CNOT4,missense_variant,p.Arg89Gly,ENST00000451834,;CNOT4,missense_variant,p.Arg89Gly,ENST00000423368,NM_001190847.1,NM_013316.3;CNOT4,missense_variant,p.Arg89Gly,ENST00000361528,;CNOT4,missense_variant,p.Arg89Gly,ENST00000414802,;CNOT4,missense_variant,p.Arg89Gly,ENST00000356162,;CNOT4,non_coding_transcript_exon_variant,,ENST00000491203,;CNOT4,downstream_gene_variant,,ENST00000465721,;CNOT4,downstream_gene_variant,,ENST00000498534,;							MODERATE	265/1728	R89G	CNOT4_HUMAN			Transcript		benign(0.138)	.	ENSP00000326731		CCDS55166.1			1	
CHN1	0	LGGM	GRCh37	2	175742815	175742815	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	74	7	.	.	ENST00000409900.3:c.302G>A	p.Gly101Asp	p.G101D	ENST00000409900	NM_001822.5	101	gGc/gAc	0	1	1	UPI000012781D	0	getma.org/pdb.php?prot=CHIN_HUMAN&from=49&to=119&var=G101D	ENST00000409900		ENSG00000128656	1943		81	2.85		HGNC	p.G101D	rs750772600,COSM3933377	CHN1	0.000127	SNV			1			0,1	ENST00000409156	protein_coding	getma.org/?cm=var&var=hg19,2,175742815,C,T&fts=all		PROSITE_profiles:PS50001,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF6,Pfam_domain:PF00017,Gene3D:3.30.505.10,PIRSF_domain:PIRSF038015,SMART_domains:SM00252,Superfamily_domains:SSF55550		G/D		T	medium	616/2447		getma.org/?cm=msa&ty=f&p=CHIN_HUMAN&rb=49&re=119&var=G101D	tolerated(0.05)	C9J3G1_HUMAN			YES	CHN1,missense_variant,p.Gly101Asp,ENST00000409900,NM_001822.5;CHN1,missense_variant,p.Gly101Asp,ENST00000409156,NM_001025201.3;CHN1,non_coding_transcript_exon_variant,,ENST00000469597,;CHN1,intron_variant,,ENST00000488080,;CHN1,upstream_gene_variant,,ENST00000481174,;CHN1,non_coding_transcript_exon_variant,,ENST00000490654,;CHN1,intron_variant,,ENST00000425395,;					0,1		MODERATE	302/1380	G101D	CHIN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000386741	1.66E-05	CCDS46455.1			1	
NRP2	0	LGGM	GRCh37	2	206640988	206640988	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	76	7	.	.	ENST00000360409.3:c.2440+9446G>T		*814*	ENST00000360409	NM_003872.2			0	1	1	UPI000014020F	0		ENST00000360409		ENSG00000118257	8005		83			HGNC	p.G815V		NRP2		SNV							ENST00000357118	protein_coding							T		-/6662				C9JH98_HUMAN			YES	NRP2,missense_variant,p.Gly815Val,ENST00000357118,NM_201267.1;NRP2,missense_variant,p.Gly820Val,ENST00000272849,NM_018534.3;NRP2,intron_variant,,ENST00000360409,NM_003872.2,NM_201266.1,NM_201279.1;NRP2,intron_variant,,ENST00000540178,;NRP2,intron_variant,,ENST00000540841,;NRP2,intron_variant,,ENST00000357785,;NRP2,intron_variant,,ENST00000412873,;NRP2,intron_variant,,ENST00000467850,;AC007362.1,upstream_gene_variant,,ENST00000315950,;							MODIFIER	-/2796		NRP2_HUMAN			Transcript			.	ENSP00000353582		CCDS2364.1			1	
GPRASP2	0	LGGM	GRCh37	X	101971396	101971396	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	82	7	.	.	ENST00000543253.1:c.1599T>C	p.Leu533=	p.L533=	ENST00000543253	NM_001184874.2	533	ctT/ctC	0	1		UPI000006F01A	0		ENST00000332262		ENSG00000158301	25169		89			HGNC	p.L533L		GPRASP2		SNV							ENST00000543253	protein_coding			hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10		L		C		2455/3720								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,;							LOW	1599/2517		GASP2_HUMAN			Transcript			.	ENSP00000339057		CCDS14501.1			1	
SMC2	0	LGGM	GRCh37	9	106889730	106889730	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	90	7	.	.	ENST00000286398.7:c.2759A>G	p.His920Arg	p.H920R	ENST00000286398	NM_006444.2	920	cAt/cGt	0	1	1	UPI000013DE44	0	NA	ENST00000286398		ENSG00000136824	14011		97	1.555		HGNC	p.H920R		SMC2		SNV							ENST00000374793	protein_coding	getma.org/?cm=var&var=hg19,9,106889730,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9		H/R		G	low	3047/5976		getma.org/?cm=msa&ty=f&p=SMC2_HUMAN&rb=717&re=1167&var=H920R	tolerated(0.35)	Q5T821_HUMAN			YES	SMC2,missense_variant,p.His920Arg,ENST00000286398,NM_006444.2,NM_001265602.1,NM_001042551.1;SMC2,missense_variant,p.His920Arg,ENST00000374793,;SMC2,missense_variant,p.His920Arg,ENST00000374787,NM_001042550.1;SMC2,missense_variant,p.His920Arg,ENST00000303219,;SMC2,5_prime_UTR_variant,,ENST00000493955,;							MODERATE	2759/3594	H920R	SMC2_HUMAN			Transcript		benign(0.158)	.	ENSP00000286398		CCDS35086.1			1	
APH1A	0	LGGM	GRCh37	1	150239588	150239588	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	48	8	.	.	ENST00000369109.3:c.496G>C	p.Ala166Pro	p.A166P	ENST00000369109	NM_001077628.2	166	Gcc/Ccc	0	1	1	UPI0000073CA3	0	NA	ENST00000369109		ENSG00000117362	29509		56	2.33		HGNC	p.A96P		APH1A		SNV							ENST00000414276	protein_coding	getma.org/?cm=var&var=hg19,1,150239588,C,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12889:SF2,hmmpanther:PTHR12889,Pfam_domain:PF06105		A/P		G	medium	685/1713		getma.org/?cm=msa&ty=f&p=APH1A_HUMAN&rb=2&re=246&var=A166P	deleterious(0.02)				YES	APH1A,missense_variant,p.Ala166Pro,ENST00000360244,NM_016022.3;APH1A,missense_variant,p.Ala166Pro,ENST00000369109,NM_001077628.2;APH1A,missense_variant,p.Ala96Pro,ENST00000414276,NM_001243772.1;APH1A,missense_variant,p.Ala109Pro,ENST00000236017,;CA14,downstream_gene_variant,,ENST00000369111,NM_012113.1;C1orf54,upstream_gene_variant,,ENST00000369102,;CA14,downstream_gene_variant,,ENST00000607082,;APH1A,non_coding_transcript_exon_variant,,ENST00000461320,;APH1A,non_coding_transcript_exon_variant,,ENST00000486308,;APH1A,non_coding_transcript_exon_variant,,ENST00000486720,;APH1A,downstream_gene_variant,,ENST00000476538,;APH1A,downstream_gene_variant,,ENST00000493092,;CA14,downstream_gene_variant,,ENST00000607652,;CA14,downstream_gene_variant,,ENST00000483993,;							MODERATE	496/798	A166P	APH1A_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000358105		CCDS41390.1			1	
ODC1	0	LGGM	GRCh37	2	10581999	10581999	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	81	8	.	.	ENST00000234111.4:c.970G>A	p.Gly324Arg	p.G324R	ENST00000234111	NM_002539.1	324	Gga/Aga	0	1	1	UPI0000001283	0	getma.org/pdb.php?prot=DCOR_HUMAN&from=285&to=408&var=G324R	ENST00000234111		ENSG00000115758	8109		89	3.715		HGNC	p.G324R		ODC1		SNV							ENST00000405333	protein_coding	getma.org/?cm=var&var=hg19,2,10581999,C,T&fts=all		hmmpanther:PTHR11482:SF42,hmmpanther:PTHR11482,Pfam_domain:PF00278,Gene3D:2.40.37.10,Superfamily_domains:SSF50621,Prints_domain:PR01182		G/R		T	high	1481/2653		getma.org/?cm=msa&ty=f&p=DCOR_HUMAN&rb=285&re=408&var=G324R	deleterious(0.01)	C9JG30_HUMAN			YES	ODC1,missense_variant,p.Gly324Arg,ENST00000234111,NM_002539.1,NM_001287190.1;ODC1,missense_variant,p.Gly324Arg,ENST00000405333,NM_001287189.1;ODC1,downstream_gene_variant,,ENST00000443218,;SNORA80B,downstream_gene_variant,,ENST00000383906,NR_028374.1;ODC1,downstream_gene_variant,,ENST00000446285,;							MODERATE	970/1386	G324R	DCOR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000234111		CCDS1672.1			1	
WHSC1	0	LGGM	GRCh37	4	1918745	1918745	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	52	8	.	.	ENST00000382891.5:c.908C>T	p.Thr303Met	p.T303M	ENST00000382891	NM_133335.3	303	aCg/aTg	0	1		UPI0000073F57	0	NA	ENST00000382891		ENSG00000109685	12766		60	1.445		HGNC	p.T303M		WHSC1		SNV			1				ENST00000382892	protein_coding	getma.org/?cm=var&var=hg19,4,1918745,C,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Gene3D:2.30.30.160,Pfam_domain:PF00855,Superfamily_domains:SSF63748		T/M		T	low	1047/7534		getma.org/?cm=msa&ty=f&p=NSD2_HUMAN&rb=299&re=454&var=T303M	deleterious(0.01)	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN				WHSC1,missense_variant,p.Thr303Met,ENST00000503128,;WHSC1,missense_variant,p.Thr303Met,ENST00000398261,NM_133334.2;WHSC1,missense_variant,p.Thr303Met,ENST00000382895,NM_133330.2;WHSC1,missense_variant,p.Thr303Met,ENST00000382892,NM_133331.2;WHSC1,missense_variant,p.Thr303Met,ENST00000382891,NM_133335.3;WHSC1,missense_variant,p.Thr303Met,ENST00000420906,NM_007331.1;WHSC1,missense_variant,p.Thr303Met,ENST00000508803,NM_001042424.2;WHSC1,missense_variant,p.Thr303Met,ENST00000514045,;WHSC1,missense_variant,p.Thr303Met,ENST00000509115,;WHSC1,downstream_gene_variant,,ENST00000436793,;WHSC1,missense_variant,p.Thr303Met,ENST00000312087,;WHSC1,missense_variant,p.Thr303Met,ENST00000353275,;WHSC1,3_prime_UTR_variant,,ENST00000512700,;WHSC1,non_coding_transcript_exon_variant,,ENST00000508355,;WHSC1,upstream_gene_variant,,ENST00000511904,;							MODERATE	908/4098	T303M	NSD2_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000372347		CCDS33940.1			1	
FTHL17	0	LGGM	GRCh37	X	31089941	31089941	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	30	8	.	.	ENST00000359202.3:c.130C>T	p.Arg44Trp	p.R44W	ENST00000359202	NM_031894.2	44	Cgg/Tgg	0	1	1	UPI00000421FF	0	getma.org/pdb.php?prot=FHL17_HUMAN&from=18&to=159&var=R44W	ENST00000359202		ENSG00000132446	3987		38	3.65		HGNC	p.R44W	rs770613475,COSM1120022,COSM1120023	FTHL17		SNV				0.000118		0,1,1	ENST00000359202	protein_coding	getma.org/?cm=var&var=hg19,X,31089941,G,A&fts=all	A:0.0008	PROSITE_profiles:PS50905,hmmpanther:PTHR11431:SF33,hmmpanther:PTHR11431,Pfam_domain:PF00210,Gene3D:1.20.1260.10,Superfamily_domains:SSF47240		R/W		A	high	230/811		getma.org/?cm=msa&ty=f&p=FHL17_HUMAN&rb=18&re=159&var=R44W	deleterious(0)		A:0	A:0	YES	FTHL17,missense_variant,p.Arg44Trp,ENST00000359202,NM_031894.2;		A:0.0003			0,1,1		MODERATE	130/552	R44W	FHL17_HUMAN		A:0	Transcript		probably_damaging(0.991)	.	ENSP00000368207	8.24E-06	CCDS14227.1		A:0	1	
TAF2	0	LGGM	GRCh37	8	120744382	120744382	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	121	8	.	.	ENST00000378164.2:c.3382A>T	p.Ser1128Cys	p.S1128C	ENST00000378164	NM_003184.3	1128	Agc/Tgc	0	1	1	UPI0000210507	0	NA	ENST00000378164		ENSG00000064313	11536		129	0		HGNC	p.S1128C		TAF2		SNV			1				ENST00000378164	protein_coding	getma.org/?cm=var&var=hg19,8,120744382,T,A&fts=all		hmmpanther:PTHR15137		S/C		A	neutral	3681/5048		getma.org/?cm=msa&ty=f&p=TAF2_HUMAN&rb=1007&re=1199&var=S1128C	deleterious_low_confidence(0.02)				YES	TAF2,missense_variant,p.Ser1128Cys,ENST00000378164,NM_003184.3;TAF2,missense_variant,p.Ser304Cys,ENST00000529653,;TAF2,non_coding_transcript_exon_variant,,ENST00000526969,;							MODERATE	3382/3600	S1128C	TAF2_HUMAN			Transcript		benign(0.066)	.	ENSP00000367406		CCDS34937.1			1	
METTL22	0	LGGM	GRCh37	16	8722955	8722955	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	85	8	.	.	ENST00000381920.3:c.502A>G	p.Ile168Val	p.I168V	ENST00000381920	NM_024109.2	168	Atc/Gtc	0	1	1	UPI00001FED9D	0	getma.org/pdb.php?prot=MET22_HUMAN&from=164&to=349&var=I168V	ENST00000381920		ENSG00000067365	28368		93	-0.93		HGNC	p.I168V	rs767535258,COSM1520336	METTL22	6.35E-05	SNV						0,1	ENST00000381920	protein_coding	getma.org/?cm=var&var=hg19,16,8722955,A,G&fts=all		Gene3D:3.40.50.150,hmmpanther:PTHR23108,hmmpanther:PTHR23108:SF0		I/V		G	neutral	760/1552		getma.org/?cm=msa&ty=f&p=MET22_HUMAN&rb=164&re=349&var=I168V	tolerated(1)	H3BTR2_HUMAN			YES	METTL22,missense_variant,p.Ile168Val,ENST00000381920,NM_024109.2;METTL22,missense_variant,p.Ile112Val,ENST00000561758,;METTL22,downstream_gene_variant,,ENST00000563958,;METTL22,downstream_gene_variant,,ENST00000564554,;METTL22,upstream_gene_variant,,ENST00000568967,;METTL22,downstream_gene_variant,,ENST00000563037,;METTL22,missense_variant,p.Ile168Val,ENST00000163678,;METTL22,3_prime_UTR_variant,,ENST00000567295,;					0,1		MODERATE	502/1215	I168V	MET22_HUMAN			Transcript		benign(0.006)	.	ENSP00000371345	8.26E-06	CCDS10533.2			1	
RPS6KA6	0	LGGM	GRCh37	X	83352858	83352858	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	63	9	.	.	ENST00000262752.2:c.1777-2A>G		p.X593_splice	ENST00000262752	NM_014496.4			0	1	1	UPI0000035B52	0		ENST00000262752		ENSG00000072133	10435		72			HGNC	-		RPS6KA6		SNV							ENST00000262752	protein_coding							C		-/2547							YES	RPS6KA6,splice_acceptor_variant,,ENST00000262752,NM_014496.4;RPS6KA6,splice_acceptor_variant,,ENST00000543399,;RPS6KA6,splice_acceptor_variant,,ENST00000495332,;							HIGH	1777/2238		KS6A6_HUMAN			Transcript			.	ENSP00000262752		CCDS14451.1			1	
ALB	0	LGGM	GRCh37	4	74277834	74277834	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	52	9	.	.	ENST00000295897.4:c.835G>C	p.Asp279His	p.D279H	ENST00000295897	NM_000477.5	279	Gat/Cat	0	1	1	UPI000002C1AC	0	getma.org/pdb.php?prot=ALBU_HUMAN&from=220&to=394&var=D279H	ENST00000295897		ENSG00000163631	399		61	2.74		HGNC	p.D279H		ALB		SNV			1				ENST00000295897	protein_coding	getma.org/?cm=var&var=hg19,4,74277834,G,C&fts=all		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		D/H		C	medium	924/2263		getma.org/?cm=msa&ty=f&p=ALBU_HUMAN&rb=220&re=394&var=D279H	tolerated(0.32)				YES	ALB,missense_variant,p.Asp279His,ENST00000295897,NM_000477.5;ALB,missense_variant,p.Asp279His,ENST00000509063,;ALB,missense_variant,p.Asp129His,ENST00000503124,;ALB,missense_variant,p.Asp164His,ENST00000401494,;ALB,missense_variant,p.Asp124His,ENST00000511370,;ALB,missense_variant,p.Asp87His,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,,ENST00000507673,;ALB,upstream_gene_variant,,ENST00000484992,;ALB,downstream_gene_variant,,ENST00000515133,;ALB,upstream_gene_variant,,ENST00000504043,;							MODERATE	835/1830	D279H	ALBU_HUMAN			Transcript		benign(0.122)	.	ENSP00000295897		CCDS3555.1			1	
PSMB5	0	LGGM	GRCh37	14	23495378	23495378	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	75	9	.	.	ENST00000361611.6:c.712G>T	p.Val238Leu	p.V238L	ENST00000361611	NM_002797.3	238	Gtg/Ttg	0	1	1	UPI000013C701	0	getma.org/pdb.php?prot=PSB5_HUMAN&from=56&to=238&var=V238L	ENST00000361611		ENSG00000100804	9542		84	2.725		HGNC	p.V135L		PSMB5		SNV							ENST00000425762	protein_coding	getma.org/?cm=var&var=hg19,14,23495378,C,A&fts=all		Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_profiles:PS51476,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF51,Superfamily_domains:SSF56235		V/L		A	medium	976/1294		getma.org/?cm=msa&ty=f&p=PSB5_HUMAN&rb=56&re=238&var=V238L	deleterious(0.03)				YES	PSMB5,missense_variant,p.Val238Leu,ENST00000361611,NM_002797.3;PSMB5,missense_variant,p.Val135Leu,ENST00000425762,NM_001130725.1;PSMB5,3_prime_UTR_variant,,ENST00000493471,NM_001144932.1;PSMB5,3_prime_UTR_variant,,ENST00000460922,;PSMB5,intron_variant,,ENST00000555895,;PSMB5,downstream_gene_variant,,ENST00000334454,;							MODERATE	712/792	V238L	PSB5_HUMAN			Transcript		benign(0.3)	.	ENSP00000355325		CCDS9584.1			1	
RP11-1220K2.2	0	LGGM	GRCh37	7	141833901	141833901	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	61	10	.	.	ENST00000550469.2:c.696T>C	p.Asn232=	p.N232=	ENST00000550469		232	aaT/aaC	0	1		UPI0002B8321D	0		ENST00000477922		ENSG00000257743			71			Clone_based_vega_gene	p.N232N		RP11-1220K2.2		SNV							ENST00000477922	protein_coding			hmmpanther:PTHR22762:SF55,hmmpanther:PTHR22762,Superfamily_domains:SSF74650		N		C		750/7867				C9JNC2_HUMAN				RP11-1220K2.2,synonymous_variant,p.=,ENST00000477922,;RP11-1220K2.2,synonymous_variant,p.=,ENST00000550469,;							LOW	696/7548					Transcript			.	ENSP00000420449					1	
MORC4	0	LGGM	GRCh37	X	106185779	106185779	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	79	10	.	.	ENST00000355610.4:c.2342G>A	p.Arg781His	p.R781H	ENST00000355610	NM_001085354.2	781	cGt/cAt	0	1	1	UPI00003E75D3	0	NA	ENST00000355610		ENSG00000133131	23485		89	1.7		HGNC	p.R781H		MORC4		SNV							ENST00000255495	protein_coding	getma.org/?cm=var&var=hg19,X,106185779,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1,Low_complexity_(Seg):seg		R/H		T	low	2617/3834		getma.org/?cm=msa&ty=f&p=MORC4_HUMAN&rb=553&re=935&var=R781H	tolerated(0.08)				YES	MORC4,missense_variant,p.Arg781His,ENST00000355610,NM_001085354.2,NM_024657.4;MORC4,missense_variant,p.Arg529His,ENST00000535534,;MORC4,missense_variant,p.Arg781His,ENST00000255495,;MORC4,intron_variant,,ENST00000604604,;MORC4,non_coding_transcript_exon_variant,,ENST00000478924,;							MODERATE	2342/2814	R781H	MORC4_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000347821		CCDS14525.2			1	
CLCA4	0	LGGM	GRCh37	1	87041101	87041101	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	62	10	.	.	ENST00000370563.3:c.1770T>C	p.Ser590=	p.S590=	ENST00000370563	NM_012128.3	590	tcT/tcC	0	1	1	UPI00000389E8	0		ENST00000370563		ENSG00000016602	2018		72			HGNC	p.S590S		CLCA4		SNV			1				ENST00000370563	protein_coding			hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,Pfam_domain:PF09315,TIGRFAM_domain:TIGR00868		S		C		1812/3211				Q9NXP1_HUMAN			YES	CLCA4,synonymous_variant,p.=,ENST00000370563,NM_012128.3;CLCA4,downstream_gene_variant,,ENST00000263723,;RP4-651E10.4,intron_variant,,ENST00000456587,;CLCA4,downstream_gene_variant,,ENST00000496322,;							LOW	1770/2760		CLCA4_HUMAN			Transcript			.	ENSP00000359594		CCDS41355.1			1	
GLYR1	0	LGGM	GRCh37	16	4873858	4873858	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	85	11	.	.	ENST00000321919.9:c.588G>T	p.Pro196=	p.P196=	ENST00000321919	NM_032569.3	196	ccG/ccT	0	1	1	UPI00001FF8EE	0		ENST00000321919		ENSG00000140632	24434		96			HGNC	p.P196P	rs772879234	GLYR1		SNV							ENST00000591451	protein_coding			hmmpanther:PTHR22981,hmmpanther:PTHR22981:SF56		P		A		665/3772	1.50E-05			K7EPU6_HUMAN			YES	GLYR1,synonymous_variant,p.=,ENST00000321919,NM_032569.3;GLYR1,synonymous_variant,p.=,ENST00000381983,;GLYR1,synonymous_variant,p.=,ENST00000589389,;GLYR1,synonymous_variant,p.=,ENST00000436648,;GLYR1,synonymous_variant,p.=,ENST00000591451,;GLYR1,synonymous_variant,p.=,ENST00000587297,;GLYR1,synonymous_variant,p.=,ENST00000588297,;GLYR1,non_coding_transcript_exon_variant,,ENST00000586901,;GLYR1,3_prime_UTR_variant,,ENST00000588732,;GLYR1,upstream_gene_variant,,ENST00000586095,;							LOW	588/1662		GLYR1_HUMAN			Transcript			.	ENSP00000322716	8.24E-06	CCDS10524.1			1	
SSX4B	0	LGGM	GRCh37	X	48270281	48270281	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110702	H110702N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	141	11	.	.	ENST00000376884.2:c.96C>T	p.Phe32=	p.F32=	ENST00000376884	NM_001034832.3	32	ttC/ttT	0	1	1	UPI0000136054	0		ENST00000376884		ENSG00000198946	16880		152			HGNC	p.F32F		SSX4B		SNV							ENST00000376884	protein_coding			Superfamily_domains:0044637,SMART_domains:SM00349,hmmpanther:PTHR14112:SF8,hmmpanther:PTHR14112,PROSITE_profiles:PS50806		F		A		154/1217							YES	SSX4B,synonymous_variant,p.=,ENST00000376884,NM_001034832.3;SSX4B,synonymous_variant,p.=,ENST00000396928,NM_001040612.2;AF196972.2,upstream_gene_variant,,ENST00000415467,;							LOW	96/567		SSX4_HUMAN			Transcript			.	ENSP00000366081		CCDS35241.1			1	
TM7SF2	0	LGGM	GRCh37	11	64881006	64881006	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	117	11	.	.	ENST00000279263.7:c.543T>A	p.Pro181=	p.P181=	ENST00000279263	NM_003273.3	181	ccT/ccA	0	1	1	UPI000013DBC4	0		ENST00000279263		ENSG00000149809	11863		128			HGNC	p.P32P		TM7SF2		SNV							ENST00000526085	protein_coding			hmmpanther:PTHR21257,PROSITE_patterns:PS01017,Pfam_domain:PF01222		P		A		705/1722				F5GYV3_HUMAN,E9PRQ1_HUMAN,E9PLI3_HUMAN			YES	TM7SF2,synonymous_variant,p.=,ENST00000279263,NM_003273.3;TM7SF2,synonymous_variant,p.=,ENST00000540748,;TM7SF2,synonymous_variant,p.=,ENST00000345348,NM_001277233.1;TM7SF2,synonymous_variant,p.=,ENST00000525385,;TM7SF2,synonymous_variant,p.=,ENST00000531321,;TM7SF2,synonymous_variant,p.=,ENST00000534371,;TM7SF2,synonymous_variant,p.=,ENST00000529414,;TM7SF2,synonymous_variant,p.=,ENST00000524986,;TM7SF2,synonymous_variant,p.=,ENST00000528802,;TM7SF2,synonymous_variant,p.=,ENST00000526085,;TM7SF2,synonymous_variant,p.=,ENST00000527968,;TM7SF2,intron_variant,,ENST00000526809,;VPS51,downstream_gene_variant,,ENST00000279281,NM_013265.3;ZNHIT2,downstream_gene_variant,,ENST00000310597,NM_014205.2;VPS51,downstream_gene_variant,,ENST00000526856,;VPS51,downstream_gene_variant,,ENST00000530673,;ZNHIT2,downstream_gene_variant,,ENST00000528598,;TM7SF2,downstream_gene_variant,,ENST00000530750,;AP003068.9,upstream_gene_variant,,ENST00000528887,;AP003068.12,upstream_gene_variant,,ENST00000527789,;TM7SF2,intron_variant,,ENST00000531029,;VPS51,downstream_gene_variant,,ENST00000527646,;TM7SF2,downstream_gene_variant,,ENST00000533646,;TM7SF2,3_prime_UTR_variant,,ENST00000529601,;TM7SF2,3_prime_UTR_variant,,ENST00000524690,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000530650,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000533766,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000527851,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000529233,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000532328,;TM7SF2,non_coding_transcript_exon_variant,,ENST00000534667,;TM7SF2,intron_variant,,ENST00000529292,;TM7SF2,intron_variant,,ENST00000528026,;VPS51,downstream_gene_variant,,ENST00000534591,;TM7SF2,upstream_gene_variant,,ENST00000526048,;VPS51,downstream_gene_variant,,ENST00000533827,;TM7SF2,downstream_gene_variant,,ENST00000530892,;VPS51,downstream_gene_variant,,ENST00000531146,;							LOW	543/1257		ERG24_HUMAN			Transcript			.	ENSP00000279263		CCDS41669.1			1	
VPS33A	0	LGGM	GRCh37	12	122729150	122729150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	43	12	.	.	ENST00000267199.4:c.935G>T	p.Ser312Ile	p.S312I	ENST00000267199	NM_022916.4	312	aGc/aTc	0	1	1	UPI000000D7AA	0	getma.org/pdb.php?prot=VP33A_HUMAN&from=33&to=591&var=S312I	ENST00000267199		ENSG00000139719	18179		55	2.85		HGNC	p.S312I		VPS33A		SNV							ENST00000267199	protein_coding	getma.org/?cm=var&var=hg19,12,122729150,C,A&fts=all		Gene3D:3.90.830.10,Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF31,Superfamily_domains:SSF56815		S/I		A	medium	1048/4586		getma.org/?cm=msa&ty=f&p=VP33A_HUMAN&rb=33&re=591&var=S312I	deleterious(0)	Q9H6C4_HUMAN			YES	VPS33A,missense_variant,p.Ser312Ile,ENST00000267199,NM_022916.4;VPS33A,missense_variant,p.Ser117Ile,ENST00000536212,;VPS33A,non_coding_transcript_exon_variant,,ENST00000540669,;VPS33A,intron_variant,,ENST00000541169,;RP11-512M8.5,missense_variant,p.Ser273Ile,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;VPS33A,downstream_gene_variant,,ENST00000544349,;							MODERATE	935/1791	S312I	VP33A_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000267199		CCDS9231.1			1	
CAPZA1	0	LGGM	GRCh37	1	113197206	113197206	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	142	13	.	.	ENST00000263168.3:c.339A>G	p.Ala113=	p.A113=	ENST00000263168	NM_006135.2	113	gcA/gcG	0	1	1	UPI00001270FA	0		ENST00000263168		ENSG00000116489	1488		155			HGNC	p.A113A		CAPZA1		SNV							ENST00000263168	protein_coding			Pfam_domain:PF01267,hmmpanther:PTHR10653,hmmpanther:PTHR10653:SF2,Superfamily_domains:SSF90096		A		G		1011/3020							YES	CAPZA1,synonymous_variant,p.=,ENST00000263168,NM_006135.2;snoU13,downstream_gene_variant,,ENST00000459345,;CAPZA1,non_coding_transcript_exon_variant,,ENST00000498626,;CAPZA1,intron_variant,,ENST00000476936,;CAPZA1,upstream_gene_variant,,ENST00000466066,;CAPZA1,downstream_gene_variant,,ENST00000485542,;							LOW	339/861		CAZA1_HUMAN			Transcript			.	ENSP00000263168		CCDS30805.1			1	
RICTOR	0	LGGM	GRCh37	5	39002698	39002698	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	134	13	.	.	ENST00000357387.3:c.331A>G	p.Ile111Val	p.I111V	ENST00000357387	NM_152756.3	111	Atc/Gtc	0	1	1	UPI00003529F3	0	NA	ENST00000357387		ENSG00000164327	28611		147	1.93		HGNC	p.I95V		RICTOR		SNV							ENST00000514735	protein_coding	getma.org/?cm=var&var=hg19,5,39002698,T,C&fts=all		Superfamily_domains:SSF48371,Pfam_domain:PF14664,Gene3D:1.25.10.10,hmmpanther:PTHR13298:SF11,hmmpanther:PTHR13298		I/V		C	medium	362/9543		getma.org/?cm=msa&ty=f&p=RICTR_HUMAN&rb=6&re=1706&var=I111V	tolerated(0.23)				YES	RICTOR,missense_variant,p.Ile111Val,ENST00000357387,NM_152756.3;RICTOR,missense_variant,p.Ile111Val,ENST00000296782,NM_001285439.1;RICTOR,missense_variant,p.Ile95Val,ENST00000514735,;RICTOR,missense_variant,p.Ile111Val,ENST00000511516,NM_001285440.1;RICTOR,non_coding_transcript_exon_variant,,ENST00000510711,;RICTOR,non_coding_transcript_exon_variant,,ENST00000513566,;							MODERATE	331/5127	I111V	RICTR_HUMAN			Transcript		benign(0.013)	.	ENSP00000349959		CCDS34148.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26236998	26236998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	95	13	.	.	ENST00000354667.4:c.237G>T	p.Met79Ile	p.M79I	ENST00000354667	NM_031243.2	79	atG/atT	0	1	1	UPI000002F091	0	getma.org/pdb.php?prot=ROA2_HUMAN&from=23&to=92&var=M79I	ENST00000354667		ENSG00000122566	5033		108	0.37		HGNC	p.M67I		HNRNPA2B1		SNV			1				ENST00000356674	protein_coding	getma.org/?cm=var&var=hg19,7,26236998,C,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Pfam_domain:PF14259,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		M/I		A	neutral	406/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=23&re=92&var=M79I	deleterious(0.04)				YES	HNRNPA2B1,missense_variant,p.Met79Ile,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Met67Ile,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;HNRNPA2B1,missense_variant,p.Met79Ile,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;							MODERATE	237/1062	M79I	ROA2_HUMAN			Transcript		possibly_damaging(0.457)	.	ENSP00000346694		CCDS43557.1			1	
ABCA1	0	LGGM	GRCh37	9	107550302	107550302	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110702	H110702N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	55	14	.	.	ENST00000374736.3:c.6103G>A	p.Val2035Met	p.V2035M	ENST00000374736	NM_005502.3	2035	Gtg/Atg	0	1	1	UPI000013E441	0	getma.org/pdb.php?prot=ABCA1_HUMAN&from=1953&to=2073&var=V2035M	ENST00000374736		ENSG00000165029	29		69	0.39		HGNC	p.V2035M	rs372790037	ABCA1		SNV	T:0.0002		1	9.61E-05			ENST00000374736	protein_coding	getma.org/?cm=var&var=hg19,9,107550302,C,T&fts=all		PROSITE_profiles:PS50893,hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF00005,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		V/M	T:0	T	neutral	6498/10494		getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1953&re=2073&var=V2035M	tolerated(0.24)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Val2035Met,ENST00000374736,NM_005502.3;							MODERATE	6103/6786	V2035M	ABCA1_HUMAN			Transcript		benign(0.014)	.	ENSP00000363868	8.24E-06	CCDS6762.1			1	
MEIS2	0	LGGM	GRCh37	15	37184408	37184408	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	117	14	.	.	ENST00000561208.1:c.1400T>C	p.Val467Ala	p.V467A	ENST00000561208		467	gTt/gCt	0	1	1	UPI000012EEBC	0	NA	ENST00000561208		ENSG00000134138	7001		131	-0.895		HGNC	p.V460A		MEIS2		SNV			1				ENST00000338564	protein_coding	getma.org/?cm=var&var=hg19,15,37184408,A,G&fts=all		hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850		V/A		G	neutral	1819/4818		getma.org/?cm=msa&ty=f&p=MEIS2_HUMAN&rb=334&re=477&var=V467A	tolerated_low_confidence(0.47)	H0YKN2_HUMAN,H0YKE5_HUMAN			YES	MEIS2,missense_variant,p.Val460Ala,ENST00000338564,NM_001220482.1;MEIS2,missense_variant,p.Val467Ala,ENST00000561208,;MEIS2,missense_variant,p.Val460Ala,ENST00000382766,NM_170676.4,NM_170675.4;MEIS2,3_prime_UTR_variant,,ENST00000444725,NM_170677.4,NM_170674.4;MEIS2,3_prime_UTR_variant,,ENST00000340545,NM_002399.3;MEIS2,3_prime_UTR_variant,,ENST00000424352,;MEIS2,3_prime_UTR_variant,,ENST00000397624,;MEIS2,3_prime_UTR_variant,,ENST00000557796,;MEIS2,3_prime_UTR_variant,,ENST00000559085,NM_172315.2;MEIS2,3_prime_UTR_variant,,ENST00000219869,;MEIS2,3_prime_UTR_variant,,ENST00000397620,NM_172316.2;MEIS2,downstream_gene_variant,,ENST00000559561,;MEIS2,downstream_gene_variant,,ENST00000607277,;MEIS2,downstream_gene_variant,,ENST00000559408,;MEIS2,3_prime_UTR_variant,,ENST00000314177,;MEIS2,3_prime_UTR_variant,,ENST00000560570,;MEIS2,non_coding_transcript_exon_variant,,ENST00000560702,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561264,;MEIS2,non_coding_transcript_exon_variant,,ENST00000559972,;MEIS2,downstream_gene_variant,,ENST00000558643,;MEIS2,downstream_gene_variant,,ENST00000559371,;MEIS2,downstream_gene_variant,,ENST00000561284,;MEIS2,downstream_gene_variant,,ENST00000557992,;							MODERATE	1400/1434	V467A	MEIS2_HUMAN			Transcript		benign(0)	.	ENSP00000453793		CCDS10044.1			1	
EIF4A2	0	LGGM	GRCh37	3	186506968	186506968	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	79	15	.	.	ENST00000323963.5:c.1134T>C	p.Thr378=	p.T378=	ENST00000323963		378	acT/acC	0	1	1	UPI0000000DD2	0		ENST00000323963		ENSG00000156976	3284		94			HGNC	p.T283T		EIF4A2		SNV							ENST00000356531	protein_coding			PROSITE_profiles:PS51194,hmmpanther:PTHR24031:SF226,hmmpanther:PTHR24031,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		T		C		1198/1919				Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN			YES	EIF4A2,synonymous_variant,p.=,ENST00000323963,;EIF4A2,synonymous_variant,p.=,ENST00000440191,NM_001967.3;EIF4A2,synonymous_variant,p.=,ENST00000356531,;RFC4,downstream_gene_variant,,ENST00000392481,NM_181573.2;RFC4,downstream_gene_variant,,ENST00000296273,NM_002916.3;RFC4,downstream_gene_variant,,ENST00000433496,;RFC4,downstream_gene_variant,,ENST00000447345,;RFC4,downstream_gene_variant,,ENST00000418288,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000498746,;EIF4A2,downstream_gene_variant,,ENST00000441007,;RFC4,downstream_gene_variant,,ENST00000417876,;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,;SNORD2,downstream_gene_variant,,ENST00000459163,NR_002587.1;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,3_prime_UTR_variant,,ENST00000425053,;EIF4A2,3_prime_UTR_variant,,ENST00000426808,;EIF4A2,3_prime_UTR_variant,,ENST00000443963,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000494445,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000496382,;RFC4,downstream_gene_variant,,ENST00000494047,;EIF4A2,downstream_gene_variant,,ENST00000468362,;EIF4A2,downstream_gene_variant,,ENST00000465267,;RFC4,downstream_gene_variant,,ENST00000479307,;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,,ENST00000465222,;RFC4,downstream_gene_variant,,ENST00000460408,;EIF4A2,downstream_gene_variant,,ENST00000486805,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,downstream_gene_variant,,ENST00000465032,;EIF4A2,downstream_gene_variant,,ENST00000495049,;EIF4A2,downstream_gene_variant,,ENST00000461021,;EIF4A2,downstream_gene_variant,,ENST00000467585,;EIF4A2,downstream_gene_variant,,ENST00000466362,;							LOW	1134/1224		IF4A2_HUMAN			Transcript			.	ENSP00000326381		CCDS3282.1			1	
RYR2	0	LGGM	GRCh37	1	237789024	237789024	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	102	17	.	.	ENST00000366574.2:c.6086T>A	p.Leu2029Gln	p.L2029Q	ENST00000366574	NM_001035.2	2029	cTg/cAg	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		119	2.89		HGNC	p.L2029Q		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237789024,T,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		L/Q		A	medium	6403/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1962&re=2120&var=L2029Q		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Leu2029Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu2013Gln,ENST00000542537,;RYR2,missense_variant,p.Leu2027Gln,ENST00000360064,;							MODERATE	6086/14904	L2029Q	RYR2_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000355533		CCDS55691.1			1	
GPR125	0	LGGM	GRCh37	4	22390775	22390775	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	175	21	.	.	ENST00000334304.5:c.2659A>G	p.Ile887Val	p.I887V	ENST00000334304	NM_145290.3	887	Att/Gtt	0	1	1	UPI00001D7735	0	NA	ENST00000334304		ENSG00000152990	13839		196	1.835		HGNC	p.I14V		GPR125		SNV							ENST00000511051	protein_coding	getma.org/?cm=var&var=hg19,4,22390775,T,C&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF00002,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF35,PROSITE_profiles:PS50261		I/V		C	low	2929/4557		getma.org/?cm=msa&ty=f&p=GP125_HUMAN&rb=756&re=1043&var=I887V	deleterious(0.02)	Q6JN45_HUMAN,D6RER4_HUMAN,D6RDX4_HUMAN			YES	GPR125,missense_variant,p.Ile887Val,ENST00000334304,NM_145290.3;GPR125,non_coding_transcript_exon_variant,,ENST00000282943,;GPR125,downstream_gene_variant,,ENST00000504617,;GPR125,missense_variant,p.Ile14Val,ENST00000511051,;GPR125,non_coding_transcript_exon_variant,,ENST00000499527,;							MODERATE	2659/3966	I887V	GP125_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000334952		CCDS33964.1			1	
NBPF10	0	LGGM	GRCh37	1	145304565	145304565	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110702	H110702N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	356	25	.	.	ENST00000342960.5:c.1498A>G	p.Ile500Val	p.I500V	ENST00000342960	NM_001039703.5	500	Atc/Gtc	0	1	1	UPI0001CE93AE	0	NA	ENST00000342960		ENSG00000163386	31992		381	1.555		HGNC	p.I425V		NBPF10		SNV							ENST00000448873	protein_coding	getma.org/?cm=var&var=hg19,1,145304565,A,G&fts=all		Pfam_domain:PF06758,PROSITE_profiles:PS51316,hmmpanther:PTHR14199,hmmpanther:PTHR14199:SF16		I/V		G	low	1533/10697		getma.org/?cm=msa&ty=f&p=H7BY67_HUMAN&rb=201&re=340&var=I242V		S4R3H5_HUMAN,A6NDV3_HUMAN			YES	NBPF10,missense_variant,p.Ile500Val,ENST00000342960,NM_001039703.5;NBPF10,missense_variant,p.Ile229Val,ENST00000369339,;NBPF10,missense_variant,p.Ile229Val,ENST00000369338,;NBPF10,missense_variant,p.Ile166Val,ENST00000605176,;NBPF10,3_prime_UTR_variant,,ENST00000448873,;NBPF10,missense_variant,p.Ile500Val,ENST00000490598,;RP11-458D21.5,3_prime_UTR_variant,,ENST00000468030,;NBPF10,3_prime_UTR_variant,,ENST00000464433,;							MODERATE	1498/10662	I242V				Transcript		benign(0.165)	.	ENSP00000345684					1	
ZFHX4	0	LGGM	GRCh37	8	77767735	77767735	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110702	H110702N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110702N.bam, H110702T.bam	Illumina HiSeq	120	27	.	.	ENST00000521891.2:c.8578T>G	p.Cys2860Gly	p.C2860G	ENST00000521891	NM_024721.4	2860	Tgc/Ggc	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		147	0.14		HGNC	p.C2834G		ZFHX4		SNV							ENST00000518282	protein_coding	getma.org/?cm=var&var=hg19,8,77767735,T,G&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40		C/G		G	neutral	9026/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=2654&re=2853&var=C2815G		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Cys2860Gly,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Cys2815Gly,ENST00000455469,;ZFHX4,missense_variant,p.Cys2834Gly,ENST00000518282,;ZFHX4,missense_variant,p.Cys2815Gly,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000522409,;							MODERATE	8578/10851	C2815G				Transcript		benign(0.443)	.	ENSP00000430497		CCDS47878.2			1	
CNGA3	0	LGGM	GRCh37	2	98994168	98994168	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	6	2	.	.	ENST00000393504.1:c.120G>A	p.Glu40=	p.E40=	ENST00000393504	NM_001298.2	40	gaG/gaA	0	1		UPI000004717B	0		ENST00000272602		ENSG00000144191	2150		8			HGNC	p.E40E		CNGA3		SNV			1				ENST00000393504	protein_coding			Low_complexity_(Seg):seg		E		A		159/3470								CNGA3,synonymous_variant,p.=,ENST00000393504,NM_001298.2;CNGA3,synonymous_variant,p.=,ENST00000272602,;CNGA3,synonymous_variant,p.=,ENST00000436404,NM_001079878.1;CNGA3,5_prime_UTR_variant,,ENST00000409937,;CNGA3,upstream_gene_variant,,ENST00000393503,;							LOW	120/2085		CNGA3_HUMAN			Transcript			.	ENSP00000272602		CCDS2034.1			1	
LRRC37B	0	LGGM	GRCh37	17	30357698	30357698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	6	2	.	.	ENST00000341671.7:c.1847G>T	p.Arg616Leu	p.R616L	ENST00000341671	NM_052888.2	616	cGa/cTa	0	1	1	UPI000044D37B	0	NA	ENST00000341671		ENSG00000185158	29070		8	1.665		HGNC	p.R534L		LRRC37B		SNV							ENST00000543378	protein_coding	getma.org/?cm=var&var=hg19,17,30357698,G,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR23045,hmmpanther:PTHR23045:SF5,SMART_domains:SM00369,Superfamily_domains:SSF52058		R/L		T	low	1852/3025		getma.org/?cm=msa&ty=f&p=LR37B_HUMAN&rb=604&re=657&var=R616L	deleterious(0)	J3QL10_HUMAN,F5H5K1_HUMAN			YES	LRRC37B,missense_variant,p.Arg643Leu,ENST00000327564,;LRRC37B,missense_variant,p.Arg534Leu,ENST00000543378,;LRRC37B,missense_variant,p.Arg616Leu,ENST00000341671,NM_052888.2;LRRC37B,intron_variant,,ENST00000584368,;LRRC37B,intron_variant,,ENST00000394713,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000580871,;LRRC37B,downstream_gene_variant,,ENST00000581786,;LRRC37B,missense_variant,p.Arg628Leu,ENST00000578674,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583204,;LRRC37B,non_coding_transcript_exon_variant,,ENST00000583758,;LRRC37B,intron_variant,,ENST00000582815,;LRRC37B,upstream_gene_variant,,ENST00000580303,;							MODERATE	1847/2844	R616L	LR37B_HUMAN			Transcript		benign(0)	.	ENSP00000340519		CCDS32609.1			1	
CHN2	0	LGGM	GRCh37	7	29407574	29407574	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	47	3	.	.	ENST00000222792.6:c.115C>A	p.Arg39Ser	p.R39S	ENST00000222792	NM_004067.2	39	Cgt/Agt	0	1	1	UPI000012781F	0	getma.org/pdb.php?prot=CHIO_HUMAN&from=1&to=58&var=R39S	ENST00000222792		ENSG00000106069	1944		50	1.04		HGNC	p.R52S		CHN2		SNV							ENST00000409350	protein_coding	getma.org/?cm=var&var=hg19,7,29407574,C,A&fts=all		PIRSF_domain:PIRSF038015,hmmpanther:PTHR23178,hmmpanther:PTHR23178:SF7,Superfamily_domains:SSF55550		R/S		A	low	645/3530		getma.org/?cm=msa&ty=f&p=CHIO_HUMAN&rb=1&re=58&var=R39S	tolerated(0.07)	A4D1A2_HUMAN			YES	CHN2,missense_variant,p.Arg39Ser,ENST00000222792,NM_004067.2;CHN2,missense_variant,p.Arg39Ser,ENST00000435288,;CHN2,missense_variant,p.Arg24Ser,ENST00000546235,;CHN2,missense_variant,p.Arg114Ser,ENST00000539406,;CHN2,missense_variant,p.Arg52Ser,ENST00000495789,;CHN2,missense_variant,p.Arg39Ser,ENST00000539389,;CHN2,missense_variant,p.Arg114Ser,ENST00000439384,;CHN2,missense_variant,p.Arg52Ser,ENST00000409350,;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,,ENST00000483081,;CHN2,non_coding_transcript_exon_variant,,ENST00000478128,;CHN2,synonymous_variant,p.=,ENST00000474070,;							MODERATE	115/1407	R39S	CHIO_HUMAN			Transcript		possibly_damaging(0.867)	.	ENSP00000222792		CCDS5420.1			1	
PCDHGB4	0	LGGM	GRCh37	5	140767872	140767872	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	46	3	.	.	ENST00000519479.1:c.421C>A	p.Gln141Lys	p.Q141K	ENST00000519479	NM_003736.2	141	Caa/Aaa	0	1	1	UPI000006F773	0	getma.org/pdb.php?prot=PCDGG_HUMAN&from=138&to=233&var=Q141K	ENST00000519479		ENSG00000253953	8711		49	-0.4		HGNC	p.Q141K		PCDHGB4		SNV							ENST00000519479	protein_coding	getma.org/?cm=var&var=hg19,5,140767872,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF73,Superfamily_domains:SSF49313		Q/K		A	neutral	421/4578		getma.org/?cm=msa&ty=f&p=PCDGG_HUMAN&rb=138&re=233&var=Q141K	tolerated(0.59)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB4,missense_variant,p.Gln141Lys,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;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,NM_032095.1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1;							MODERATE	421/2772	Q141K	PCDGG_HUMAN			Transcript		benign(0.017)	.	ENSP00000428288		CCDS54928.1			1	
SERPINE2	0	LGGM	GRCh37	2	224856533	224856533	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	31	3	.	.	ENST00000447280.2:c.708C>A	p.Ser236=	p.S236=	ENST00000447280	NM_001136530.1	236	tcC/tcA	0	1		UPI0000049599	0		ENST00000258405		ENSG00000135919	8951		34			HGNC	p.S224S		SERPINE2		SNV							ENST00000409840	protein_coding			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF48,Gene3D:2.30.39.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		S		T		915/2195				C9K031_HUMAN,C9JRK5_HUMAN,C9JN98_HUMAN				SERPINE2,synonymous_variant,p.=,ENST00000409840,;SERPINE2,synonymous_variant,p.=,ENST00000258405,NM_001136528.1,NM_006216.3;SERPINE2,synonymous_variant,p.=,ENST00000409304,;SERPINE2,synonymous_variant,p.=,ENST00000447280,NM_001136530.1;SERPINE2,synonymous_variant,p.=,ENST00000432738,;							LOW	672/1197		GDN_HUMAN			Transcript			.	ENSP00000258405		CCDS2460.1			1	
ZNF10	0	LGGM	GRCh37	12	133732526	133732526	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	30	3	.	.	ENST00000248211.6:c.694C>A	p.His232Asn	p.H232N	ENST00000248211	NM_015394.4	232	Cac/Aac	0	1	1	UPI0000073582	0	getma.org/pdb.php?prot=ZNF10_HUMAN&from=55&to=254&var=H232N	ENST00000248211		ENSG00000256223	12879		33	3.125		HGNC	p.H232N		ZNF10		SNV							ENST00000248211	protein_coding	getma.org/?cm=var&var=hg19,12,133732526,C,A&fts=all		Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF124,PROSITE_profiles:PS50157		H/N		A	medium	916/4441		getma.org/?cm=msa&ty=f&p=ZNF10_HUMAN&rb=55&re=254&var=H232N	deleterious(0.02)	Q9UG14_HUMAN,F5H6S6_HUMAN,F5H311_HUMAN,F5H0R3_HUMAN,F5GZ75_HUMAN			YES	ZNF10,missense_variant,p.His232Asn,ENST00000248211,NM_015394.4;ZNF10,missense_variant,p.His232Asn,ENST00000426665,;ZNF10,missense_variant,p.His190Asn,ENST00000537119,;ZNF10,intron_variant,,ENST00000402932,;ZNF268,intron_variant,,ENST00000416488,;CTD-2140B24.4,intron_variant,,ENST00000540096,;ZNF10,downstream_gene_variant,,ENST00000540609,;ZNF10,downstream_gene_variant,,ENST00000538918,;ZNF10,downstream_gene_variant,,ENST00000536877,;ZNF10,downstream_gene_variant,,ENST00000540927,;ZNF10,downstream_gene_variant,,ENST00000536704,;							MODERATE	694/1722	H232N	ZNF10_HUMAN			Transcript		benign(0.018)	.	ENSP00000248211		CCDS9283.1			1	
KCNH5	0	LGGM	GRCh37	14	63269148	63269148	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	45	3	.	.	ENST00000322893.7:c.1721G>T	p.Gly574Val	p.G574V	ENST00000322893	NM_139318.4	574	gGg/gTg	0	1	1	UPI0000039E2D	0	getma.org/pdb.php?prot=KCNH5_HUMAN&from=568&to=655&var=G574V	ENST00000322893		ENSG00000140015	6254		48	3.86		HGNC	p.G574V		KCNH5		SNV							ENST00000322893	protein_coding	getma.org/?cm=var&var=hg19,14,63269148,C,A&fts=all		Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,SMART_domains:SM00100,Superfamily_domains:SSF51206		G/V		A	high	1990/4175		getma.org/?cm=msa&ty=f&p=KCNH5_HUMAN&rb=568&re=655&var=G574V	deleterious(0)				YES	KCNH5,missense_variant,p.Gly574Val,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Gly574Val,ENST00000420622,NM_172375.2;KCNH5,missense_variant,p.Gly516Val,ENST00000394968,;							MODERATE	1721/2967	G574V	KCNH5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000321427		CCDS9756.1			1	
PTGDR	0	LGGM	GRCh37	14	52734751	52734751	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	27	3	.	.	ENST00000306051.2:c.219G>T	p.Leu73Phe	p.L73F	ENST00000306051	NM_000953.2	73	ttG/ttT	0	1	1	UPI000000D994	0	NA	ENST00000306051		ENSG00000168229	9591		30	2.325		HGNC	p.L73F		PTGDR		SNV			1				ENST00000306051	protein_coding	getma.org/?cm=var&var=hg19,14,52734751,G,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01788,PROSITE_profiles:PS50262,hmmpanther:PTHR11866,hmmpanther:PTHR11866:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/F		T	medium	321/2942		getma.org/?cm=msa&ty=f&p=PD2R_HUMAN&rb=48&re=323&var=L73F	deleterious(0.02)				YES	PTGDR,missense_variant,p.Leu73Phe,ENST00000306051,NM_000953.2;PTGDR,missense_variant,p.Leu73Phe,ENST00000553372,NM_001281469.1;							MODERATE	219/1080	L73F	PD2R_HUMAN			Transcript		benign(0.269)	.	ENSP00000303424		CCDS9707.1			1	
MATK	0	LGGM	GRCh37	19	3781670	3781670	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	37	3	.	.	ENST00000395045.2:c.680C>A	p.Ala227Glu	p.A227E	ENST00000395045	NM_002378.3	227	gCg/gAg	0	1		UPI0000000C50	0	getma.org/pdb.php?prot=MATK_HUMAN&from=197&to=234&var=A226E	ENST00000310132		ENSG00000007264	6906		40	1.7		HGNC	p.A107E		MATK		SNV							ENST00000587180	protein_coding	getma.org/?cm=var&var=hg19,19,3781670,G,T&fts=all		hmmpanther:PTHR24418:SF50,hmmpanther:PTHR24418,Gene3D:3.30.200.20,Superfamily_domains:SSF55550		A/E		T	low	1076/2133		getma.org/?cm=msa&ty=f&p=MATK_HUMAN&rb=197&re=234&var=A226E	tolerated(0.08)	K7ERY4_HUMAN,K7EQV3_HUMAN,K7ENL8_HUMAN,F1T0G6_HUMAN				MATK,missense_variant,p.Ala226Glu,ENST00000310132,NM_139355.2;MATK,missense_variant,p.Ala227Glu,ENST00000395045,NM_002378.3;MATK,missense_variant,p.Ala226Glu,ENST00000585778,;MATK,missense_variant,p.Ala185Glu,ENST00000395040,NM_139354.2;MATK,missense_variant,p.Ala141Glu,ENST00000590493,;MATK,missense_variant,p.Ala107Glu,ENST00000587180,;MATK,missense_variant,p.Ala133Glu,ENST00000588983,;MATK,downstream_gene_variant,,ENST00000590028,;MATK,downstream_gene_variant,,ENST00000591059,;MATK,downstream_gene_variant,,ENST00000590849,;MATK,downstream_gene_variant,,ENST00000590980,;							MODERATE	677/1524	A226E	MATK_HUMAN			Transcript		benign(0.309)	.	ENSP00000308734		CCDS12114.1			1	
PKD2	0	LGGM	GRCh37	4	88957457	88957457	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	44	3	.	.	ENST00000237596.2:c.795G>T	p.Thr265=	p.T265=	ENST00000237596	NM_000297.3	265	acG/acT	0	1	1	UPI000013CA1D	0		ENST00000237596		ENSG00000118762	9009		47			HGNC	p.T265T		PKD2		SNV			1				ENST00000237596	protein_coding			hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF114		T		T		861/5056				Q9UEU6_HUMAN,B7Z2D4_HUMAN,B4DFN3_HUMAN,B4DE45_HUMAN			YES	PKD2,synonymous_variant,p.=,ENST00000237596,NM_000297.3;PKD2,non_coding_transcript_exon_variant,,ENST00000506367,;PKD2,non_coding_transcript_exon_variant,,ENST00000506727,;							LOW	795/2907		PKD2_HUMAN			Transcript			.	ENSP00000237596		CCDS3627.1			1	
RARS	0	LGGM	GRCh37	5	167945004	167945004	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	38	3	.	.	ENST00000231572.3:c.1810C>A	p.Leu604Met	p.L604M	ENST00000231572	NM_002887.3	604	Ctg/Atg	0	1	1	UPI0000136648	0	getma.org/pdb.php?prot=SYRC_HUMAN&from=534&to=660&var=L604M	ENST00000231572		ENSG00000113643	9870		41	2.925		HGNC	p.L604M		RARS		SNV							ENST00000231572	protein_coding	getma.org/?cm=var&var=hg19,5,167945004,C,A&fts=all		Superfamily_domains:SSF47323,SMART_domains:SM00836,Gene3D:1.10.730.10,TIGRFAM_domain:TIGR00456,Pfam_domain:PF05746,hmmpanther:PTHR11956:SF1,hmmpanther:PTHR11956,HAMAP:MF_00123		L/M		A	medium	1864/2146		getma.org/?cm=msa&ty=f&p=SYRC_HUMAN&rb=534&re=660&var=L604M	deleterious(0)	F5H3T8_HUMAN			YES	RARS,missense_variant,p.Leu604Met,ENST00000231572,NM_002887.3;RARS,missense_variant,p.Leu398Met,ENST00000538719,;RARS,3_prime_UTR_variant,,ENST00000520013,;							MODERATE	1810/1983	L604M	SYRC_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000231572		CCDS4367.1			1	
PPAP2C	0	LGGM	GRCh37	19	282218	282218	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	18	3	.	.	ENST00000327790.3:c.696C>T	p.Gly232=	p.G232=	ENST00000327790	NM_177543.2	232	ggC/ggT	0	1		UPI0000168653	0		ENST00000434325		ENSG00000141934	9230		21			HGNC	p.G211G		PPAP2C		SNV							ENST00000269812	protein_coding			Superfamily_domains:SSF48317,SMART_domains:SM00014,Pfam_domain:PF01569,Gene3D:1.20.144.10,hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Transmembrane_helices:TMhelix		G		A		649/926								PPAP2C,synonymous_variant,p.=,ENST00000269812,NM_003712.3,NM_177526.2;PPAP2C,synonymous_variant,p.=,ENST00000327790,NM_177543.2;PPAP2C,synonymous_variant,p.=,ENST00000434325,;PPAP2C,synonymous_variant,p.=,ENST00000586998,;PPAP2C,downstream_gene_variant,,ENST00000589672,;VN2R11P,downstream_gene_variant,,ENST00000589981,;							LOW	465/699		LPP2_HUMAN			Transcript			.	ENSP00000388565		CCDS45889.1			1	
CLRN2	0	LGGM	GRCh37	4	17516952	17516952	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	37	3	.	.	ENST00000511148.2:c.63C>A	p.Phe21Leu	p.F21L	ENST00000511148	NM_001079827.2	21	ttC/ttA	0	1	1	UPI0000D6154A	0	NA	ENST00000511148		ENSG00000249581	33939		40	1.245		HGNC	p.F21L		CLRN2		SNV							ENST00000511148	protein_coding	getma.org/?cm=var&var=hg19,4,17516952,C,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR31548,hmmpanther:PTHR31548:SF5,Pfam_domain:PF00822		F/L		A	low	165/823		getma.org/?cm=msa&ty=f&p=CLRN2_HUMAN&rb=18&re=208&var=F21L	tolerated(0.23)				YES	CLRN2,missense_variant,p.Phe21Leu,ENST00000511148,NM_001079827.2;QDPR,upstream_gene_variant,,ENST00000281243,NM_000320.2;QDPR,upstream_gene_variant,,ENST00000428702,;QDPR,upstream_gene_variant,,ENST00000513615,;QDPR,upstream_gene_variant,,ENST00000505710,;QDPR,upstream_gene_variant,,ENST00000508623,;QDPR,upstream_gene_variant,,ENST00000507439,;QDPR,upstream_gene_variant,,ENST00000514300,;							MODERATE	63/699	F21L	CLRN2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000424711		CCDS47032.1			1	
RAD1	0	LGGM	GRCh37	5	34913656	34913656	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	35	3	.	.	ENST00000382038.2:c.226C>A	p.Gln76Lys	p.Q76K	ENST00000382038	NM_002853.3	76	Cag/Aag	0	1		UPI000003159B	0	getma.org/pdb.php?prot=RAD1_HUMAN&from=16&to=257&var=Q76K	ENST00000341754		ENSG00000113456	9806		38	-0.51		HGNC	p.Q76K		RAD1		SNV							ENST00000341754	protein_coding	getma.org/?cm=var&var=hg19,5,34913656,G,T&fts=all		Gene3D:3.70.10.10,Pfam_domain:PF02144,Prints_domain:PR01245,hmmpanther:PTHR10870		Q/K		T	neutral	1125/2341		getma.org/?cm=msa&ty=f&p=RAD1_HUMAN&rb=16&re=257&var=Q76K	tolerated(1)					RAD1,missense_variant,p.Gln76Lys,ENST00000382038,NM_002853.3;RAD1,missense_variant,p.Gln76Lys,ENST00000341754,;BRIX1,upstream_gene_variant,,ENST00000336767,NM_018321.3;BRIX1,upstream_gene_variant,,ENST00000506023,;RAD1,3_prime_UTR_variant,,ENST00000513914,;RAD1,intron_variant,,ENST00000325577,;RAD1,intron_variant,,ENST00000511456,;BRIX1,upstream_gene_variant,,ENST00000510834,;BRIX1,upstream_gene_variant,,ENST00000515798,;BRIX1,upstream_gene_variant,,ENST00000510960,;RAD1,downstream_gene_variant,,ENST00000506311,;RAD1,downstream_gene_variant,,ENST00000512192,;							MODERATE	226/849	Q76K	RAD1_HUMAN			Transcript		benign(0)	.	ENSP00000340879		CCDS3905.1			1	
ANKRD11	0	LGGM	GRCh37	16	89349005	89349005	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	30	3	.	.	ENST00000301030.4:c.3945G>T	p.Pro1315=	p.P1315=	ENST00000301030	NM_001256183.1	1315	ccG/ccT	0	1	1	UPI00004569E1	0		ENST00000301030		ENSG00000167522	21316		33			HGNC	p.P1315P		ANKRD11		SNV			1				ENST00000301030	protein_coding			hmmpanther:PTHR24145		P		A		4406/9301							YES	ANKRD11,synonymous_variant,p.=,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,synonymous_variant,p.=,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000562275,;ANKRD11,downstream_gene_variant,,ENST00000378332,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							LOW	3945/7992		ANR11_HUMAN			Transcript			.	ENSP00000301030		CCDS32513.1			1	
ZNF236	0	LGGM	GRCh37	18	74607159	74607159	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	33	3	.	.	ENST00000253159.8:c.1602C>A	p.Gly534=	p.G534=	ENST00000253159	NM_007345.3	534	ggC/ggA	0	1	1	UPI0000F6DCCB	0		ENST00000253159		ENSG00000130856	13028		36			HGNC	p.G534G		ZNF236		SNV							ENST00000253159	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15,Superfamily_domains:SSF57667		G		A		1800/8124							YES	ZNF236,synonymous_variant,p.=,ENST00000253159,NM_007345.3;ZNF236,synonymous_variant,p.=,ENST00000320610,;ZNF236,upstream_gene_variant,,ENST00000584565,;ZNF236,synonymous_variant,p.=,ENST00000543926,;ZNF236,non_coding_transcript_exon_variant,,ENST00000583488,;							LOW	1602/5538		ZN236_HUMAN			Transcript			.	ENSP00000253159		CCDS42447.1			1	
TEX2	0	LGGM	GRCh37	17	62265646	62265646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	42	3	.	.	ENST00000258991.3:c.2327G>T	p.Arg776Leu	p.R776L	ENST00000258991	NM_001288732.1	776	cGg/cTg	0	1		UPI0000201266	0	NA	ENST00000583097		ENSG00000136478	30884		45	2.25		HGNC	p.R769L		TEX2		SNV							ENST00000584379	protein_coding	getma.org/?cm=var&var=hg19,17,62265646,C,A&fts=all		hmmpanther:PTHR13466,hmmpanther:PTHR13466:SF2		R/L		A	medium	2479/4852		getma.org/?cm=msa&ty=f&p=TEX2_HUMAN&rb=582&re=781&var=R769L	deleterious(0.01)	Q9NX99_HUMAN,Q7Z2T6_HUMAN,J3QKY0_HUMAN,J3KRY2_HUMAN				TEX2,missense_variant,p.Arg776Leu,ENST00000258991,NM_001288732.1,NM_001288733.1;TEX2,missense_variant,p.Arg769Leu,ENST00000583097,;TEX2,missense_variant,p.Arg769Leu,ENST00000584379,NM_018469.3;TEX2,missense_variant,p.Arg270Leu,ENST00000583501,;TEX2,non_coding_transcript_exon_variant,,ENST00000577489,;							MODERATE	2306/3384	R769L	TEX2_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000462665					1	
PRSS23	0	LGGM	GRCh37	11	86519354	86519354	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	36	3	.	.	ENST00000280258.5:c.669G>T	p.Arg223=	p.R223=	ENST00000280258	NM_007173.4	223	cgG/cgT	0	1	1	UPI0000048EBC	0		ENST00000280258		ENSG00000150687	14370		39			HGNC	p.R223R		PRSS23		SNV							ENST00000280258	protein_coding			hmmpanther:PTHR15462,hmmpanther:PTHR15462:SF10,Gene3D:2.40.10.10,Pfam_domain:PF00089,Superfamily_domains:SSF50494		R		T		1094/4015				E9PRR2_HUMAN,B7ZB43_HUMAN			YES	PRSS23,synonymous_variant,p.=,ENST00000280258,NM_007173.4;PRSS23,synonymous_variant,p.=,ENST00000441050,;PRSS23,intron_variant,,ENST00000533902,;PRSS23,downstream_gene_variant,,ENST00000527521,;PRSS23,intron_variant,,ENST00000531475,;PRSS23,intron_variant,,ENST00000533880,;PRSS23,intron_variant,,ENST00000532234,;							LOW	669/1152		PRS23_HUMAN			Transcript			.	ENSP00000280258		CCDS8278.1			1	
AL391152.1	0	LGGM	GRCh37	14	57672637	57672637	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	19	3	.	.	ENST00000391612.1:c.58T>C	p.Ser20Pro	p.S20P	ENST00000391612		20	Tct/Cct	0	1	1	UPI000007299B	0		ENST00000391612		ENSG00000212928			22			Clone_based_ensembl_gene	p.S20P		AL391152.1		SNV							ENST00000391612	protein_coding					S/P		C		750/1404				Q9UHT0_HUMAN			YES	AL391152.1,missense_variant,p.Ser20Pro,ENST00000391612,;EXOC5,3_prime_UTR_variant,,ENST00000413566,NM_006544.3;EXOC5,downstream_gene_variant,,ENST00000340918,;EXOC5,downstream_gene_variant,,ENST00000554011,;EXOC5,downstream_gene_variant,,ENST00000555148,;							MODERATE	58/171					Transcript		possibly_damaging(0.514)	.	ENSP00000375470					1	
RNASEH2A	0	LGGM	GRCh37	19	12924144	12924144	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	21	3	.	.	ENST00000221486.4:c.764A>C	p.Glu255Ala	p.E255A	ENST00000221486	NM_006397.2	255	gAg/gCg	0	1	1	UPI00001343E6	0	getma.org/pdb.php?prot=RNH2A_HUMAN&from=242&to=299&var=E255A	ENST00000221486		ENSG00000104889	18518		24	1.355		HGNC	p.E255A		RNASEH2A		SNV			1				ENST00000221486	protein_coding	getma.org/?cm=var&var=hg19,19,12924144,A,C&fts=all		hmmpanther:PTHR10954,hmmpanther:PTHR10954:SF7		E/A		C	low	858/1165		getma.org/?cm=msa&ty=f&p=RNH2A_HUMAN&rb=242&re=299&var=E255A	deleterious(0.03)				YES	RNASEH2A,missense_variant,p.Glu255Ala,ENST00000221486,NM_006397.2;HOOK2,intron_variant,,ENST00000589765,;RNASEH2A,splice_region_variant,,ENST00000593017,;							MODERATE	764/900	E255A	RNH2A_HUMAN			Transcript		benign(0.343)	.	ENSP00000221486		CCDS12282.1			1	
MPPE1	0	LGGM	GRCh37	18	11897050	11897050	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	23	3	.	.	ENST00000588072.1:c.214G>T	p.Ala72Ser	p.A72S	ENST00000588072	NM_023075.5	72	Gcc/Tcc	0	1	1	UPI000013DDD8	0	NA	ENST00000588072		ENSG00000154889	15988		26	2.1		HGNC	p.A72S		MPPE1		SNV							ENST00000590501	protein_coding	getma.org/?cm=var&var=hg19,18,11897050,C,A&fts=all		hmmpanther:PTHR13315,hmmpanther:PTHR13315:SF0,Pfam_domain:PF12850,Gene3D:3.60.21.10,Superfamily_domains:SSF56300		A/S		A	medium	1436/4236		getma.org/?cm=msa&ty=f&p=MPPE1_HUMAN&rb=70&re=352&var=A72S	deleterious(0)	K7ESB8_HUMAN,K7ES91_HUMAN,K7ERI3_HUMAN,K7ER13_HUMAN,K7EQV4_HUMAN,K7EQ74_HUMAN,K7EQ70_HUMAN,K7EJU0_HUMAN			YES	MPPE1,missense_variant,p.Ala72Ser,ENST00000588072,NM_023075.5;MPPE1,missense_variant,p.Ala72Ser,ENST00000317235,;MPPE1,missense_variant,p.Ala72Ser,ENST00000344987,;MPPE1,missense_variant,p.Ala72Ser,ENST00000399978,;MPPE1,missense_variant,p.Ala72Ser,ENST00000309976,NM_001242904.1;MPPE1,missense_variant,p.Ala72Ser,ENST00000588191,;MPPE1,missense_variant,p.Ala72Ser,ENST00000588186,;MPPE1,missense_variant,p.Ala72Ser,ENST00000592977,;MPPE1,missense_variant,p.Ala72Ser,ENST00000589267,;MPPE1,missense_variant,p.Ala72Ser,ENST00000590501,;MPPE1,missense_variant,p.Ala72Ser,ENST00000588103,;MPPE1,upstream_gene_variant,,ENST00000592331,;MPPE1,downstream_gene_variant,,ENST00000589859,;MPPE1,downstream_gene_variant,,ENST00000586844,;MPPE1,non_coding_transcript_exon_variant,,ENST00000586364,;MPPE1,non_coding_transcript_exon_variant,,ENST00000587381,;MPPE1,downstream_gene_variant,,ENST00000589829,;MPPE1,downstream_gene_variant,,ENST00000591667,;MPPE1,missense_variant,p.Ala72Ser,ENST00000496196,;MPPE1,5_prime_UTR_variant,,ENST00000317251,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592447,;MPPE1,non_coding_transcript_exon_variant,,ENST00000589731,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592894,;MPPE1,non_coding_transcript_exon_variant,,ENST00000592180,;MPPE1,downstream_gene_variant,,ENST00000593001,;							MODERATE	214/1191	A72S	MPPE1_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000465894		CCDS11853.1			1	
DNTTIP2	0	LGGM	GRCh37	1	94336239	94336239	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	29	3	.	.	ENST00000436063.2:c.2177G>T	p.Arg726Ile	p.R726I	ENST00000436063	NM_014597.4	726	aGa/aTa	0	1	1	UPI000006F063	0	NA	ENST00000436063		ENSG00000067334	24013		32	2.22		HGNC	p.R726I		DNTTIP2		SNV							ENST00000436063	protein_coding	getma.org/?cm=var&var=hg19,1,94336239,C,A&fts=all		Pfam_domain:PF08698,hmmpanther:PTHR21686,hmmpanther:PTHR21686:SF12		R/I		A	medium	2235/4363		getma.org/?cm=msa&ty=f&p=TDIF2_HUMAN&rb=635&re=731&var=R726I	deleterious(0)				YES	DNTTIP2,missense_variant,p.Arg726Ile,ENST00000436063,NM_014597.4;DNTTIP2,splice_region_variant,,ENST00000496535,;DNTTIP2,downstream_gene_variant,,ENST00000460191,;DNTTIP2,splice_region_variant,,ENST00000359208,;DNTTIP2,splice_region_variant,,ENST00000462746,;							MODERATE	2177/2271	R726I	TDIF2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000411010		CCDS44174.1			1	
ANK3	0	LGGM	GRCh37	10	61830270	61830270	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	45	3	.	.	ENST00000280772.2:c.10369C>A	p.Arg3457Ser	p.R3457S	ENST00000280772	NM_020987.3	3457	Cgc/Agc	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		48	1.445		HGNC	p.R3457S		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61830270,G,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		R/S		T	low	10561/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=3026&re=3614&var=R3457S		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Arg3457Ser,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,;							MODERATE	10369/13134	R3457S	ANK3_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000280772		CCDS7258.1			1	
ARPC1B	0	LGGM	GRCh37	7	98988654	98988654	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	18	3	.	.	ENST00000451682.1:c.639C>A	p.Ser213Arg	p.S213R	ENST00000451682		213	agC/agA	0	1		UPI0000125D33	0	getma.org/pdb.php?prot=ARC1B_HUMAN&from=171&to=370&var=S213R	ENST00000252725		ENSG00000130429	704		21	3.25		HGNC	p.S213R		ARPC1B		SNV							ENST00000252725	protein_coding	getma.org/?cm=var&var=hg19,7,98988654,C,A&fts=all		Gene3D:2.130.10.10,PIRSF_domain:PIRSF038093,hmmpanther:PTHR10709,hmmpanther:PTHR10709:SF10,SMART_domains:SM00320,Superfamily_domains:SSF50978		S/R		A	medium	759/1551		getma.org/?cm=msa&ty=f&p=ARC1B_HUMAN&rb=171&re=370&var=S213R	deleterious(0.01)	F8VXW2_HUMAN,C9K057_HUMAN,C9JTT6_HUMAN,C9JQM8_HUMAN,C9JM51_HUMAN,C9JFG9_HUMAN,C9JEY1_HUMAN,C9JBJ7_HUMAN,C9J6C8_HUMAN,C9J4Z7_HUMAN,A4D275_HUMAN				ARPC1B,missense_variant,p.Ser213Arg,ENST00000451682,;ARPC1B,missense_variant,p.Ser213Arg,ENST00000252725,NM_005720.3;PDAP1,downstream_gene_variant,,ENST00000350498,NM_014891.6;ARPC1A,downstream_gene_variant,,ENST00000432884,;ARPC1B,downstream_gene_variant,,ENST00000443222,;ARPC1B,downstream_gene_variant,,ENST00000431816,;ARPC1B,downstream_gene_variant,,ENST00000455009,;ARPC1B,downstream_gene_variant,,ENST00000414376,;ARPC1B,downstream_gene_variant,,ENST00000418347,;ARPC1B,downstream_gene_variant,,ENST00000458033,;ARPC1B,downstream_gene_variant,,ENST00000417330,;ARPC1B,downstream_gene_variant,,ENST00000427217,;ARPC1B,downstream_gene_variant,,ENST00000474880,;ARPC1B,upstream_gene_variant,,ENST00000463078,;ARPC1B,downstream_gene_variant,,ENST00000493403,;PDAP1,downstream_gene_variant,,ENST00000496335,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000481997,;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484375,;ARPC1A,downstream_gene_variant,,ENST00000441989,;ARPC1B,upstream_gene_variant,,ENST00000491294,;ARPC1B,downstream_gene_variant,,ENST00000468337,;ARPC1B,downstream_gene_variant,,ENST00000432343,;ARPC1B,downstream_gene_variant,,ENST00000445924,;ARPC1B,downstream_gene_variant,,ENST00000484600,;							MODERATE	639/1119	S213R	ARC1B_HUMAN			Transcript		possibly_damaging(0.576)	.	ENSP00000252725		CCDS5661.1			1	
TNS3	0	LGGM	GRCh37	7	47344445	47344445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	19	3	.	.	ENST00000398879.1:c.2807G>T	p.Gly936Val	p.G936V	ENST00000398879		936	gGg/gTg	0	1		UPI00001AE9DA	0	NA	ENST00000311160		ENSG00000136205	21616		22	0.805		HGNC	p.G936V		TNS3		SNV							ENST00000398879	protein_coding	getma.org/?cm=var&var=hg19,7,47344445,C,A&fts=all		hmmpanther:PTHR12305,hmmpanther:PTHR12305:SF41		G/V		A	low	3165/7618		getma.org/?cm=msa&ty=f&p=TENS3_HUMAN&rb=901&re=1100&var=G936V	tolerated(0.51)	C9JWN9_HUMAN,C9JTD0_HUMAN				TNS3,missense_variant,p.Gly936Val,ENST00000398879,;TNS3,missense_variant,p.Gly936Val,ENST00000311160,NM_022748.11;TNS3,missense_variant,p.Gly696Val,ENST00000355730,;TNS3,missense_variant,p.Gly1039Val,ENST00000457718,;							MODERATE	2807/4338	G936V	TENS3_HUMAN			Transcript		benign(0.006)	.	ENSP00000312143		CCDS5506.2			1	
PLCE1	0	LGGM	GRCh37	10	95995870	95995870	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	38	3	.	.	ENST00000371380.3:c.2413C>A	p.Arg805=	p.R805=	ENST00000371380		805	Cga/Aga	0	1		UPI00001F93EE	0		ENST00000260766		ENSG00000138193	17175		41			HGNC	p.R497R		PLCE1		SNV			1				ENST00000371385	protein_coding			Low_complexity_(Seg):seg,SMART_domains:SM00147,Superfamily_domains:0041591		R		A		3047/7992				B7ZM61_HUMAN				PLCE1,synonymous_variant,p.=,ENST00000371380,;PLCE1,synonymous_variant,p.=,ENST00000260766,NM_016341.3;PLCE1,synonymous_variant,p.=,ENST00000371375,;PLCE1,synonymous_variant,p.=,ENST00000371385,NM_001165979.1;							LOW	2413/6909		PLCE1_HUMAN			Transcript			.	ENSP00000260766		CCDS41552.1			1	
CLASP1	0	LGGM	GRCh37	2	122204917	122204917	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	10	3	.	.	ENST00000263710.4:c.1908C>T	p.Ser636=	p.S636=	ENST00000263710	NM_015282.2	636	tcC/tcT	0	1	1	UPI00001A8BFF	0		ENST00000263710		ENSG00000074054	17088		13			HGNC	p.S405S		CLASP1		SNV							ENST00000541859	protein_coding			hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567		S		A		2298/8090				C9JP76_HUMAN,C9J151_HUMAN			YES	CLASP1,synonymous_variant,p.=,ENST00000263710,NM_015282.2;CLASP1,synonymous_variant,p.=,ENST00000409078,;CLASP1,synonymous_variant,p.=,ENST00000455322,;CLASP1,synonymous_variant,p.=,ENST00000397587,NM_001142274.1,NM_001142273.1;CLASP1,synonymous_variant,p.=,ENST00000541377,NM_001207051.1;CLASP1,synonymous_variant,p.=,ENST00000541859,;CLASP1,synonymous_variant,p.=,ENST00000545861,;CLASP1,synonymous_variant,p.=,ENST00000452274,;							LOW	1908/4617		CLAP1_HUMAN			Transcript			.	ENSP00000263710					1	
LIMCH1	0	LGGM	GRCh37	4	41615556	41615556	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	31	3	.	.	ENST00000313860.7:c.560G>T	p.Arg187Leu	p.R187L	ENST00000313860	NM_014988.2	187	cGc/cTc	0	1	1	UPI0000D61554	0	NA	ENST00000313860		ENSG00000064042	29191		34	2.215		HGNC	p.R33L		LIMCH1		SNV							ENST00000381753	protein_coding	getma.org/?cm=var&var=hg19,4,41615556,G,T&fts=all		hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3		R/L		T	medium	614/6165		getma.org/?cm=msa&ty=f&p=LIMC1_HUMAN&rb=139&re=303&var=R187L	deleterious(0)	D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN			YES	LIMCH1,missense_variant,p.Arg187Leu,ENST00000313860,NM_014988.2;LIMCH1,missense_variant,p.Arg33Leu,ENST00000396595,NM_001112719.1;LIMCH1,missense_variant,p.Arg33Leu,ENST00000381753,NM_001112720.1;LIMCH1,missense_variant,p.Arg28Leu,ENST00000503057,;LIMCH1,missense_variant,p.Arg28Leu,ENST00000513024,;LIMCH1,missense_variant,p.Arg187Leu,ENST00000512820,;LIMCH1,missense_variant,p.Arg187Leu,ENST00000512946,NM_001112717.1;LIMCH1,missense_variant,p.Arg187Leu,ENST00000508501,NM_001112718.1;LIMCH1,missense_variant,p.Arg187Leu,ENST00000512632,;LIMCH1,missense_variant,p.Arg40Leu,ENST00000514096,;LIMCH1,missense_variant,p.Arg33Leu,ENST00000509277,;LIMCH1,missense_variant,p.Arg28Leu,ENST00000511496,;LIMCH1,missense_variant,p.Arg22Leu,ENST00000508466,;LIMCH1,missense_variant,p.Arg28Leu,ENST00000509638,;LIMCH1,missense_variant,p.Arg35Leu,ENST00000509454,;LIMCH1,missense_variant,p.Arg28Leu,ENST00000446625,;LIMCH1,downstream_gene_variant,,ENST00000511424,;LIMCH1,non_coding_transcript_exon_variant,,ENST00000514190,;							MODERATE	560/3252	R187L	LIMC1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000316891		CCDS33977.1			1	
HTT	0	LGGM	GRCh37	4	3174662	3174662	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	33	4	.	.	ENST00000355072.5:c.3970T>C	p.Leu1324=	p.L1324=	ENST00000355072	NM_002111.6	1324	Ttg/Ctg	0	1	1	UPI000013D567	0		ENST00000355072		ENSG00000197386	4851		37			HGNC	p.L1324L		HTT		SNV			1				ENST00000355072	protein_coding			hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10		L		C		4115/13464				D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,synonymous_variant,p.=,ENST00000355072,NM_002111.6;HTT,synonymous_variant,p.=,ENST00000509618,;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;							LOW	3970/9429		HD_HUMAN			Transcript			.	ENSP00000347184		CCDS43206.1			1	
ZNF324B	0	LGGM	GRCh37	19	58967109	58967109	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	12	4	.	.	ENST00000336614.4:c.798C>A	p.Phe266Leu	p.F266L	ENST00000336614	NM_207395.2	266	ttC/ttA	0	1	1	UPI000022AA2D	0	NA	ENST00000336614		ENSG00000249471	33107		16	2.565		HGNC	p.F256L	rs555542293	ZNF324B	6.17E-05	SNV							ENST00000391696	protein_coding	getma.org/?cm=var&var=hg19,19,58967109,C,A&fts=all	A:0	Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24382,hmmpanther:PTHR24382:SF32,SMART_domains:SM00355,Superfamily_domains:SSF57667		F/L		A	medium	905/2996	1.58E-05	getma.org/?cm=msa&ty=f&p=Z324B_HUMAN&rb=208&re=270&var=F266L	deleterious(0)	M0R3B5_HUMAN,M0R1X9_HUMAN,M0R0B1_HUMAN	A:0	A:0	YES	ZNF324B,missense_variant,p.Phe256Leu,ENST00000391696,;ZNF324B,missense_variant,p.Phe266Leu,ENST00000336614,NM_207395.2;ZNF324B,missense_variant,p.Phe266Leu,ENST00000545523,;ZNF324B,downstream_gene_variant,,ENST00000598244,;ZNF324B,downstream_gene_variant,,ENST00000599193,;ZNF324B,downstream_gene_variant,,ENST00000594214,;ZNF324B,downstream_gene_variant,,ENST00000599194,;		A:0.0002					MODERATE	798/1635	F266L	Z324B_HUMAN		A:0	Transcript		probably_damaging(0.996)	.	ENSP00000337473	1.65E-05	CCDS33138.1		A:0.001	1	
EPHA3	0	LGGM	GRCh37	3	89390905	89390905	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	19	4	.	.	ENST00000336596.2:c.971G>T	p.Arg324Leu	p.R324L	ENST00000336596	NM_005233.5	324	cGa/cTa	0	1	1	UPI0000163BE4	0	getma.org/pdb.php?prot=EPHA3_HUMAN&from=307&to=326&var=R324L	ENST00000336596		ENSG00000044524	3387		23	3.125		HGNC	p.R324L		EPHA3		SNV			1				ENST00000494014	protein_coding	getma.org/?cm=var&var=hg19,3,89390905,G,T&fts=all		hmmpanther:PTHR24416:SF18,hmmpanther:PTHR24416,PIRSF_domain:PIRSF000666		R/L		T	medium	1196/5809		getma.org/?cm=msa&ty=f&p=EPHA3_HUMAN&rb=277&re=356&var=R324L	deleterious(0.01)				YES	EPHA3,missense_variant,p.Arg324Leu,ENST00000336596,NM_005233.5;EPHA3,missense_variant,p.Arg324Leu,ENST00000494014,;EPHA3,missense_variant,p.Arg324Leu,ENST00000452448,NM_182644.2;							MODERATE	971/2952	R324L	EPHA3_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000337451		CCDS2922.1			1	
ZNF493	0	LGGM	GRCh37	19	21607760	21607760	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	34	4	.	.	ENST00000392288.2:c.2299C>A	p.His767Asn	p.H767N	ENST00000392288	NM_001076678.2	767	Cat/Aat	0	1		UPI000022ABBE	0	getma.org/pdb.php?prot=ZN493_HUMAN&from=625&to=646&var=H639N	ENST00000355504		ENSG00000196268	23708		38	-0.47		HGNC	p.H639N		ZNF493		SNV							ENST00000355504	protein_coding	getma.org/?cm=var&var=hg19,19,21607760,C,A&fts=all		PROSITE_profiles:PS50157		H/N		A	neutral	2181/4386		getma.org/?cm=msa&ty=f&p=ZN493_HUMAN&rb=595&re=646&var=H639N	tolerated(0.17)					ZNF493,missense_variant,p.His767Asn,ENST00000392288,NM_001076678.2;ZNF493,missense_variant,p.His639Asn,ENST00000355504,NM_175910.6;ZNF493,downstream_gene_variant,,ENST00000596302,;CTD-2561J22.3,intron_variant,,ENST00000600810,;ZNF493,downstream_gene_variant,,ENST00000598152,;							MODERATE	1915/1941	H639N	ZN493_HUMAN			Transcript		benign(0.003)	.	ENSP00000347691		CCDS12412.1			1	
RPL13	0	LGGM	GRCh37	16	89627441	89627441	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	14	4	.	.	ENST00000393099.3:c.74G>T	p.Trp25Leu	p.W25L	ENST00000393099	NM_033251.2	25	tGg/tTg	0	1		UPI0000001228	0	getma.org/pdb.php?prot=RL13_HUMAN&from=7&to=185&var=W25L	ENST00000311528		ENSG00000167526	10303		18	3.685		HGNC	p.W25L		RPL13		SNV							ENST00000393099	protein_coding	getma.org/?cm=var&var=hg19,16,89627441,G,T&fts=all		hmmpanther:PTHR11722:SF0,hmmpanther:PTHR11722,Pfam_domain:PF01294		W/L		T	high	150/2211		getma.org/?cm=msa&ty=f&p=RL13_HUMAN&rb=7&re=185&var=W25L	deleterious(0)	O60250_HUMAN,J3QSB4_HUMAN,H3BUK8_HUMAN,A8K4C8_HUMAN				RPL13,missense_variant,p.Trp25Leu,ENST00000393099,NM_033251.2;RPL13,missense_variant,p.Trp25Leu,ENST00000311528,NM_001243130.1,NM_000977.3;RPL13,missense_variant,p.Trp25Leu,ENST00000452368,NM_001243131.1;RPL13,missense_variant,p.Trp25Leu,ENST00000567815,;RPL13,missense_variant,p.Trp25Leu,ENST00000467736,;RPL13,intron_variant,,ENST00000563270,;SPG7,downstream_gene_variant,,ENST00000268704,NM_003119.2;RPL13,upstream_gene_variant,,ENST00000472354,;SNORD68,upstream_gene_variant,,ENST00000363214,;SPG7,downstream_gene_variant,,ENST00000565891,;RPL13,missense_variant,p.Trp25Leu,ENST00000562879,;RPL13,non_coding_transcript_exon_variant,,ENST00000563749,;RPL13,non_coding_transcript_exon_variant,,ENST00000484610,;RPL13,non_coding_transcript_exon_variant,,ENST00000399461,;RPL13,non_coding_transcript_exon_variant,,ENST00000491523,;RPL13,non_coding_transcript_exon_variant,,ENST00000487034,;RPL13,non_coding_transcript_exon_variant,,ENST00000565571,;SPG7,downstream_gene_variant,,ENST00000569820,;SPG7,downstream_gene_variant,,ENST00000561702,;SPG7,downstream_gene_variant,,ENST00000561911,;SPG7,downstream_gene_variant,,ENST00000569720,;RPL13,upstream_gene_variant,,ENST00000570149,;							MODERATE	74/636	W25L	RL13_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000307889		CCDS10979.1			1	
TESK1	0	LGGM	GRCh37	9	35607998	35607998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	45	4	.	.	ENST00000336395.5:c.785C>A	p.Pro262Gln	p.P262Q	ENST00000336395	NM_006285.2	262	cCa/cAa	0	1	1	UPI0000074302	0	getma.org/pdb.php?prot=TESK1_HUMAN&from=57&to=311&var=P262Q	ENST00000336395		ENSG00000107140	11731		49	2.055		HGNC	p.P262Q		TESK1		SNV							ENST00000336395	protein_coding	getma.org/?cm=var&var=hg19,9,35607998,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257:SF372,hmmpanther:PTHR23257,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		P/Q		A	medium	1035/2421		getma.org/?cm=msa&ty=f&p=TESK1_HUMAN&rb=57&re=311&var=P262Q	deleterious(0)	Q8NFJ2_HUMAN,Q8NFE2_HUMAN,Q8NFE1_HUMAN,Q8N6A2_HUMAN,B4DQQ3_HUMAN			YES	TESK1,missense_variant,p.Pro262Gln,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,;TESK1,non_coding_transcript_exon_variant,,ENST00000467424,;TESK1,non_coding_transcript_exon_variant,,ENST00000463897,;TESK1,non_coding_transcript_exon_variant,,ENST00000480077,;CD72,downstream_gene_variant,,ENST00000490239,;							MODERATE	785/1881	P262Q	TESK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000338127		CCDS6580.1			1	
ISY1-RAB43	0	LGGM	GRCh37	3	128859282	128859282	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	88	4	.	.	ENST00000273541.8:c.347G>T	p.Gly116Val	p.G116V	ENST00000273541		116	gGa/gTa	0	1	1	UPI00005A60DB	0	NA	ENST00000418265		ENSG00000261796	42969		92	3.185		HGNC	p.G54V		ISY1-RAB43		SNV							ENST00000496163	protein_coding	getma.org/?cm=var&var=hg19,3,128859282,C,A&fts=all		hmmpanther:PTHR13021,Pfam_domain:PF06246		G/V		A	medium	408/4868		getma.org/?cm=msa&ty=f&p=ISY1_HUMAN&rb=1&re=267&var=G116V	deleterious(0)	H9XFA1_HUMAN			YES	ISY1-RAB43,missense_variant,p.Gly116Val,ENST00000418265,NM_001204890.1;ISY1,missense_variant,p.Gly116Val,ENST00000393295,NM_001199469.1,NM_020701.3;ISY1,missense_variant,p.Gly116Val,ENST00000273541,;ISY1,missense_variant,p.Gly116Val,ENST00000393292,;ISY1,missense_variant,p.Gly54Val,ENST00000496163,;ISY1,non_coding_transcript_exon_variant,,ENST00000471497,;ISY1,3_prime_UTR_variant,,ENST00000485703,;							MODERATE	347/996	G116V				Transcript		probably_damaging(0.969)	.	ENSP00000411822		CCDS56276.1			1	
THBS1	0	LGGM	GRCh37	15	39874447	39874447	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	25	4	.	.	ENST00000260356.5:c.121C>A	p.Arg41Ser	p.R41S	ENST00000260356	NM_003246.2	41	Cgc/Agc	0	1	1	UPI00001FE219	0	getma.org/pdb.php?prot=TSP1_HUMAN&from=24&to=221&var=R41S	ENST00000260356		ENSG00000137801	11785		29	1.7		HGNC	p.R41S	rs769663658	THBS1		SNV							ENST00000260356	protein_coding	getma.org/?cm=var&var=hg19,15,39874447,C,A&fts=all		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,SMART_domains:SM00210,Superfamily_domains:SSF49899		R/S		A	low	286/7775		getma.org/?cm=msa&ty=f&p=TSP1_HUMAN&rb=24&re=221&var=R41S	deleterious_low_confidence(0.03)	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,missense_variant,p.Arg41Ser,ENST00000260356,NM_003246.2;THBS1,missense_variant,p.Arg41Ser,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000478845,;	0.000463						MODERATE	121/3513	R41S	TSP1_HUMAN			Transcript		benign(0.03)	common_variant	ENSP00000260356	4.12E-05	CCDS32194.1			1	
TMEM246	0	LGGM	GRCh37	9	104238171	104238171	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	33	4	.	.	ENST00000374851.1:c.1204C>A	p.Leu402Ile	p.L402I	ENST00000374851		402	Ctc/Atc	0	1		UPI000006D08E	0	NA	ENST00000374847		ENSG00000165152	28180		37	1.59		HGNC	p.L402I		TMEM246		SNV							ENST00000374851	protein_coding	getma.org/?cm=var&var=hg19,9,104238171,G,T&fts=all		hmmpanther:PTHR31410,hmmpanther:PTHR31410:SF1		L/I		T	low	1505/4223		getma.org/?cm=msa&ty=f&p=TM246_HUMAN&rb=371&re=403&var=L402I	deleterious(0)					TMEM246,missense_variant,p.Leu402Ile,ENST00000374851,;TMEM246,missense_variant,p.Leu402Ile,ENST00000374848,NM_032342.1;TMEM246,missense_variant,p.Leu402Ile,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,;							MODERATE	1204/1212	L402I	TM246_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000363980		CCDS6757.1			1	
ATP5G1	0	LGGM	GRCh37	17	46972536	46972536	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	22	4	.	.	ENST00000393366.2:c.136C>G	p.Pro46Ala	p.P46A	ENST00000393366	NM_005175.2	46	Cca/Gca	0	1		UPI00001261D0	0	NA	ENST00000355938		ENSG00000159199	841		26	2.485		HGNC	p.P46A		ATP5G1		SNV							ENST00000514808	protein_coding	getma.org/?cm=var&var=hg19,17,46972536,C,G&fts=all		hmmpanther:PTHR10031,hmmpanther:PTHR10031:SF3		P/A		G	medium	221/598		getma.org/?cm=msa&ty=f&p=AT5G1_HUMAN&rb=1&re=66&var=P46A	tolerated(0.12)	I3L0Y5_HUMAN,Q6FIH7_HUMAN,D6R9H7_HUMAN				ATP5G1,missense_variant,p.Pro46Ala,ENST00000393366,NM_005175.2;ATP5G1,missense_variant,p.Pro46Ala,ENST00000355938,NM_001002027.1;ATP5G1,missense_variant,p.Pro20Ala,ENST00000506855,;ATP5G1,missense_variant,p.Pro46Ala,ENST00000504591,;ATP5G1,missense_variant,p.Pro46Ala,ENST00000514808,;ATP5G1,intron_variant,,ENST00000503641,;ATP5G1,non_coding_transcript_exon_variant,,ENST00000513781,;ATP5G1,non_coding_transcript_exon_variant,,ENST00000515060,;SUMO2P17,intron_variant,,ENST00000508743,;ATP5G1,non_coding_transcript_exon_variant,,ENST00000513347,;ATP5G1,non_coding_transcript_exon_variant,,ENST00000502964,;RP11-501C14.9,upstream_gene_variant,,ENST00000603088,;							MODERATE	136/411	P46A	AT5G1_HUMAN			Transcript		benign(0.005)	.	ENSP00000348205		CCDS11539.1			1	
DDX50	0	LGGM	GRCh37	10	70706269	70706269	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	37	4	.	.	ENST00000373585.3:c.2097C>T	p.Gly699=	p.G699=	ENST00000373585	NM_024045.1	699	ggC/ggT	0	1	1	UPI000006FBBF	0		ENST00000373585		ENSG00000107625	17906		41			HGNC	p.G699G	rs758499543	DDX50		SNV							ENST00000373585	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24031:SF227,hmmpanther:PTHR24031		G		T		2204/2538	1.50E-05			Q9NTA9_HUMAN,B4DED6_HUMAN			YES	DDX50,synonymous_variant,p.=,ENST00000373585,NM_024045.1;DDX50,non_coding_transcript_exon_variant,,ENST00000466265,;							LOW	2097/2214		DDX50_HUMAN			Transcript			.	ENSP00000362687	8.24E-06	CCDS7283.1			1	
ANKRD28	0	LGGM	GRCh37	3	15719062	15719062	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	72	4	.	.	ENST00000399451.2:c.2625G>T	p.Leu875=	p.L875=	ENST00000399451	NM_015199.3	875	ctG/ctT	0	1	1	UPI00004120FF	0		ENST00000399451		ENSG00000206560	29024		76			HGNC	p.L875L		ANKRD28		SNV							ENST00000399451	protein_coding			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24158:SF22,hmmpanther:PTHR24158,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		A		2993/6564							YES	ANKRD28,synonymous_variant,p.=,ENST00000399451,NM_015199.3,NM_001195098.1,NM_001195099.1;ANKRD28,synonymous_variant,p.=,ENST00000383777,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000497037,;ANKRD28,upstream_gene_variant,,ENST00000498713,;ANKRD28,synonymous_variant,p.=,ENST00000412318,;ANKRD28,3_prime_UTR_variant,,ENST00000451422,;ANKRD28,non_coding_transcript_exon_variant,,ENST00000479043,;ANKRD28,downstream_gene_variant,,ENST00000463533,;							LOW	2625/3162		ANR28_HUMAN			Transcript			.	ENSP00000382379		CCDS46769.1			1	
DZIP3	0	LGGM	GRCh37	3	108407734	108407734	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	28	4	.	.	ENST00000361582.3:c.3479T>A	p.Leu1160His	p.L1160H	ENST00000361582	NM_014648.3	1160	cTt/cAt	0	1	1	UPI000006E7D4	0	getma.org/pdb.php?prot=DZIP3_HUMAN&from=1146&to=1190&var=L1160H	ENST00000361582		ENSG00000198919	30938		32	1.665		HGNC	p.L1160H		DZIP3		SNV							ENST00000463306	protein_coding	getma.org/?cm=var&var=hg19,3,108407734,T,A&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13639,PROSITE_profiles:PS50089,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15,SMART_domains:SM00184,Superfamily_domains:SSF57850		L/H		A	low	3709/5350		getma.org/?cm=msa&ty=f&p=DZIP3_HUMAN&rb=1146&re=1190&var=L1160H	deleterious(0)	Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,missense_variant,p.Leu1160His,ENST00000361582,NM_014648.3;DZIP3,missense_variant,p.Leu1160His,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							MODERATE	3479/3627	L1160H	DZIP3_HUMAN			Transcript		possibly_damaging(0.895)	.	ENSP00000355028		CCDS2952.1			1	
ZNF557	0	LGGM	GRCh37	19	7083731	7083731	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	43	4	.	.	ENST00000414706.1:c.1269G>T	p.Thr423=	p.T423=	ENST00000414706	NM_024341.2	423	acG/acT	0	1	1	UPI000020324B	0		ENST00000414706		ENSG00000130544	28632		47			HGNC	p.T423T		ZNF557		SNV							ENST00000414706	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF145,SMART_domains:SM00355		T		T		1742/5990				B2RD50_HUMAN			YES	ZNF557,synonymous_variant,p.=,ENST00000414706,NM_024341.2,NM_001044388.1,NM_001044387.1;ZNF557,synonymous_variant,p.=,ENST00000439035,;ZNF557,synonymous_variant,p.=,ENST00000252840,;CTB-25J19.9,upstream_gene_variant,,ENST00000598826,;							LOW	1269/1293		ZN557_HUMAN			Transcript			.	ENSP00000404065		CCDS42485.1			1	
CIT	0	LGGM	GRCh37	12	120138616	120138616	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	34	4	.	.	ENST00000392521.2:c.5557G>A	p.Val1853Met	p.V1853M	ENST00000392521	NM_001206999.1	1853	Gtg/Atg	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		38	2.485		HGNC	p.V1811M		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120138616,C,T&fts=all		PROSITE_profiles:PS50219,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,Pfam_domain:PF00780,PIRSF_domain:PIRSF038145,SMART_domains:SM00036		V/M		T	medium	5484/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=1597&re=1869&var=V1811M	deleterious(0)					CIT,missense_variant,p.Val1853Met,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.Val1811Met,ENST00000261833,NM_007174.2;CIT,missense_variant,p.Val1424Met,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,;							MODERATE	5431/6084	V1811M	CTRO_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000261833		CCDS9192.1			1	
SHROOM3	0	LGGM	GRCh37	4	77678005	77678005	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	71	4	.	.	ENST00000296043.6:c.5113C>A	p.Arg1705=	p.R1705=	ENST00000296043	NM_020859.3	1705	Cga/Aga	0	1	1	UPI0000E5AC1C	0		ENST00000296043		ENSG00000138771	30422		75			HGNC	p.R1705R		SHROOM3		SNV			1				ENST00000296043	protein_coding			PROSITE_profiles:PS51307,hmmpanther:PTHR15012:SF33,hmmpanther:PTHR15012,Pfam_domain:PF08687		R		A		6066/11020							YES	SHROOM3,synonymous_variant,p.=,ENST00000296043,NM_020859.3;RP11-359D14.2,downstream_gene_variant,,ENST00000452412,;RP11-359D14.3,downstream_gene_variant,,ENST00000449007,;SHROOM3,downstream_gene_variant,,ENST00000469923,;							LOW	5113/5991		SHRM3_HUMAN			Transcript			.	ENSP00000296043		CCDS3579.2			1	
HRH2	0	LGGM	GRCh37	5	175110281	175110281	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	79	5	.	.	ENST00000377291.2:c.45C>A	p.Thr15=	p.T15=	ENST00000377291	NM_001131055.1	15	acC/acA	0	1		UPI00000007CC	0		ENST00000231683		ENSG00000113749	5183		84			HGNC	p.T15T		HRH2		SNV							ENST00000377291	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00531,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,Superfamily_domains:SSF81321		T		A		1818/3095								HRH2,synonymous_variant,p.=,ENST00000231683,NM_022304.2;HRH2,synonymous_variant,p.=,ENST00000377291,NM_001131055.1;							LOW	45/1080		HRH2_HUMAN			Transcript			.	ENSP00000231683		CCDS4395.1			1	
UBR3	0	LGGM	GRCh37	2	170843173	170843173	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	25	5	.	.	ENST00000418381.1:c.3653T>C	p.Ile1218Thr	p.I1218T	ENST00000418381	NM_172070.3	1218	aTt/aCt	0	1		UPI00015FA088	0	NA	ENST00000272793		ENSG00000144357	30467		30	-0.05		HGNC	p.I1218T		UBR3		SNV							ENST00000418381	protein_coding	getma.org/?cm=var&var=hg19,2,170843173,T,C&fts=all		hmmpanther:PTHR21497,hmmpanther:PTHR21497:SF25		I/T		C	neutral	3703/8005		getma.org/?cm=msa&ty=f&p=UBR3_HUMAN&rb=1189&re=1388&var=I1218T	tolerated(0.58)	Q68DC1_HUMAN				UBR3,missense_variant,p.Ile1218Thr,ENST00000272793,;UBR3,missense_variant,p.Ile1218Thr,ENST00000418381,NM_172070.3;UBR3,missense_variant,p.Ile276Thr,ENST00000392632,;UBR3,missense_variant,p.Ile39Thr,ENST00000392631,;UBR3,intron_variant,,ENST00000430321,;							MODERATE	3653/5667	I1218T	UBR3_HUMAN			Transcript		benign(0.003)	.	ENSP00000272793					1	
SETD6	0	LGGM	GRCh37	16	58550524	58550524	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	26	5	.	.	ENST00000219315.4:c.619G>T	p.Val207Phe	p.V207F	ENST00000219315		207	Gtt/Ttt	0	1	1	UPI000013C779	0	getma.org/pdb.php?prot=SETD6_HUMAN&from=74&to=286&var=V207F	ENST00000219315		ENSG00000103037	26116		31	1.245		HGNC	p.V198F		SETD6		SNV							ENST00000422445	protein_coding	getma.org/?cm=var&var=hg19,16,58550524,G,T&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR13271:SF25,hmmpanther:PTHR13271,Pfam_domain:PF00856,Gene3D:2h21C01,PIRSF_domain:PIRSF011771,Superfamily_domains:SSF82199		V/F		T	low	669/1553		getma.org/?cm=msa&ty=f&p=SETD6_HUMAN&rb=74&re=286&var=V207F	tolerated(0.16)				YES	SETD6,missense_variant,p.Val138Phe,ENST00000394266,;SETD6,missense_variant,p.Val183Phe,ENST00000310682,NM_001160305.1,NM_024860.2;SETD6,missense_variant,p.Val207Phe,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,;NDRG4,downstream_gene_variant,,ENST00000356752,NM_001242833.1;NDRG4,downstream_gene_variant,,ENST00000569923,;NDRG4,downstream_gene_variant,,ENST00000568640,;NDRG4,downstream_gene_variant,,ENST00000569408,;SETD6,non_coding_transcript_exon_variant,,ENST00000418480,;SETD6,missense_variant,p.Val183Phe,ENST00000427443,;SETD6,missense_variant,p.Val198Phe,ENST00000422445,;SETD6,non_coding_transcript_exon_variant,,ENST00000467320,;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,upstream_gene_variant,,ENST00000463954,;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,;							MODERATE	619/1422	V207F	SETD6_HUMAN			Transcript		benign(0.057)	.	ENSP00000219315		CCDS54013.1			1	
KMT2C	0	LGGM	GRCh37	7	151904465	151904465	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	67	5	.	.	ENST00000262189.6:c.3761G>T	p.Arg1254Leu	p.R1254L	ENST00000262189	NM_170606.2	1254	cGg/cTg	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		72	1.555		HGNC	p.R1254L		KMT2C		SNV							ENST00000355193	protein_coding	getma.org/?cm=var&var=hg19,7,151904465,C,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305		R/L		A	low	3980/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=1061&re=1260&var=R1254L		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Arg1254Leu,ENST00000355193,;KMT2C,missense_variant,p.Arg1254Leu,ENST00000262189,NM_170606.2;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;							MODERATE	3761/14736	R1254L	KMT2C_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000262189		CCDS5931.1			1	
NTSR2	0	LGGM	GRCh37	2	11802325	11802325	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	47	5	.	.	ENST00000306928.5:c.666T>A	p.Thr222=	p.T222=	ENST00000306928	NM_012344.3	222	acT/acA	0	1	1	UPI000013EBAA	0		ENST00000306928		ENSG00000169006	8040		52			HGNC	p.T222T		NTSR2		SNV							ENST00000306928	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24243,hmmpanther:PTHR24243:SF10,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		T		T		701/1569							YES	NTSR2,synonymous_variant,p.=,ENST00000306928,NM_012344.3;AC110754.3,downstream_gene_variant,,ENST00000399740,;							LOW	666/1233		NTR2_HUMAN			Transcript			.	ENSP00000303686		CCDS1681.1			1	
ZNF485	0	LGGM	GRCh37	10	44111774	44111774	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	42	5	.	.	ENST00000361807.3:c.283C>G	p.Leu95Val	p.L95V	ENST00000361807	NM_145312.3	95	Cta/Gta	0	1	1	UPI00000717FE	0	NA	ENST00000361807		ENSG00000198298	23440		47	-0.09		HGNC	p.L4V		ZNF485		SNV							ENST00000374437	protein_coding	getma.org/?cm=var&var=hg19,10,44111774,C,G&fts=all		hmmpanther:PTHR24376:SF14,hmmpanther:PTHR24376		L/V		G	neutral	477/2054		getma.org/?cm=msa&ty=f&p=ZN485_HUMAN&rb=52&re=143&var=L95V	tolerated(0.48)	C9JV60_HUMAN,B4DSE6_HUMAN,B2R8D6_HUMAN			YES	ZNF485,missense_variant,p.Leu95Val,ENST00000361807,NM_145312.3;ZNF485,missense_variant,p.Leu95Val,ENST00000374435,;ZNF485,missense_variant,p.Leu4Val,ENST00000374437,;ZNF485,missense_variant,p.Leu95Val,ENST00000430885,;							MODERATE	283/1326	L95V	ZN485_HUMAN			Transcript		benign(0.006)	.	ENSP00000354694		CCDS7205.2			1	
HRH2	0	LGGM	GRCh37	5	175110986	175110986	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	44	5	.	.	ENST00000377291.2:c.750C>G	p.Tyr250Ter	p.Y250*	ENST00000377291	NM_001131055.1	250	taC/taG	0	1		UPI00000007CC	0	NA	ENST00000231683		ENSG00000113749	5183		49	0		HGNC	p.Y250X		HRH2		SNV							ENST00000377291	protein_coding	getma.org/?cm=var&var=hg19,5,175110986,C,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF222,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		Y/*		G	NA	2523/3095		NA						HRH2,stop_gained,p.Tyr250Ter,ENST00000231683,NM_022304.2;HRH2,stop_gained,p.Tyr250Ter,ENST00000377291,NM_001131055.1;							HIGH	750/1080	Y250*	HRH2_HUMAN			Transcript			.	ENSP00000231683		CCDS4395.1			1	
CACNG5	0	LGGM	GRCh37	17	64880851	64880851	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	33	5	.	.	ENST00000533854.1:c.570+73T>C		*190*	ENST00000533854				0	1		UPI0000001240	0		ENST00000307139		ENSG00000075429	1409		38			HGNC	p.W215R		CACNG5		SNV							ENST00000169565	protein_coding							C		-/828								CACNG5,missense_variant,p.Trp215Arg,ENST00000169565,;CACNG5,intron_variant,,ENST00000533854,;CACNG5,intron_variant,,ENST00000307139,NM_145811.2;							MODIFIER	-/828		CCG5_HUMAN			Transcript			.	ENSP00000303092		CCDS11665.1			1	
SUPT3H	0	LGGM	GRCh37	6	44988329	44988329	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	47	5	.	.	ENST00000371460.1:c.260G>A	p.Arg87Lys	p.R87K	ENST00000371460	NM_181356.2	87	aGg/aAg	0	1	1	UPI000018CE7C	0	NA	ENST00000371460		ENSG00000196284	11466		52	1.355		HGNC	p.R76K		SUPT3H		SNV							ENST00000306867	protein_coding	getma.org/?cm=var&var=hg19,6,44988329,C,T&fts=all		hmmpanther:PTHR11380:SF3,hmmpanther:PTHR11380,Pfam_domain:PF02269		R/K		T	low	578/2389		getma.org/?cm=msa&ty=f&p=SUPT3_HUMAN&rb=106&re=198&var=R158K	tolerated(0.34)	B4E1H0_HUMAN			YES	SUPT3H,missense_variant,p.Arg87Lys,ENST00000371460,NM_181356.2;SUPT3H,missense_variant,p.Arg76Lys,ENST00000371459,NM_003599.3,NM_001261823.1;SUPT3H,missense_variant,p.Arg87Lys,ENST00000371461,;SUPT3H,missense_variant,p.Arg76Lys,ENST00000306867,;SUPT3H,missense_variant,p.Arg76Lys,ENST00000475057,;							MODERATE	260/987	R158K	SUPT3_HUMAN			Transcript		benign(0.02)	.	ENSP00000360515		CCDS34466.1			1	
ZAN	0	LGGM	GRCh37	7	100370951	100370951	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	49	5	.	.	ENST00000546292.1:c.5469C>T	p.Ser1823=	p.S1823=	ENST00000546292	NM_173059.1	1823	agC/agT	0	1	1	UPI00004575C6	0		ENST00000546292		ENSG00000146839	12857		54			HGNC	p.S400S		ZAN		SNV							ENST00000546213	protein_coding			Low_complexity_(Seg):seg,Superfamily_domains:SSF57567,SMART_domains:SM00181,Gene3D:2.10.25.10,Pfam_domain:PF01826,hmmpanther:PTHR11339:SF221,hmmpanther:PTHR11339		S		T		5617/8375				F5H0T8_HUMAN			YES	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,synonymous_variant,p.=,ENST00000427578,;ZAN,synonymous_variant,p.=,ENST00000449052,;ZAN,synonymous_variant,p.=,ENST00000349350,;ZAN,synonymous_variant,p.=,ENST00000443370,;ZAN,synonymous_variant,p.=,ENST00000421100,;ZAN,synonymous_variant,p.=,ENST00000348028,;							LOW	5469/8163					Transcript			.	ENSP00000445943					1	
ALG12	0	LGGM	GRCh37	22	50307354	50307354	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	32	5	.	.	ENST00000330817.6:c.60A>C	p.Val20=	p.V20=	ENST00000330817	NM_024105.3	20	gtA/gtC	0	1	1	UPI000006D8F9	0		ENST00000330817		ENSG00000182858	19358		37			HGNC	p.V20V		ALG12		SNV			1				ENST00000330817	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF03901,hmmpanther:PTHR22760:SF1,hmmpanther:PTHR22760		V		G		334/5350							YES	ALG12,synonymous_variant,p.=,ENST00000330817,NM_024105.3;CRELD2,upstream_gene_variant,,ENST00000404488,NM_001135101.1;CRELD2,upstream_gene_variant,,ENST00000328268,NM_024324.3;CRELD2,upstream_gene_variant,,ENST00000450207,;ALG12,upstream_gene_variant,,ENST00000492791,;							LOW	60/1467		ALG12_HUMAN			Transcript			.	ENSP00000333813		CCDS14081.1			1	
EDIL3	0	LGGM	GRCh37	5	83476279	83476279	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	22	6	.	.	ENST00000296591.5:c.287G>T	p.Arg96Leu	p.R96L	ENST00000296591	NM_005711.4	96	cGa/cTa	0	1	1	UPI000004D126	0	getma.org/pdb.php?prot=EDIL3_HUMAN&from=78&to=115&var=R96L	ENST00000296591		ENSG00000164176	3173		28	1.87		HGNC	p.R96L		EDIL3		SNV							ENST00000296591	protein_coding	getma.org/?cm=var&var=hg19,5,83476279,C,A&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF00008,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50026		R/L		A	low	706/4727		getma.org/?cm=msa&ty=f&p=EDIL3_HUMAN&rb=78&re=115&var=R96L	deleterious(0)				YES	EDIL3,missense_variant,p.Arg96Leu,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Arg86Leu,ENST00000380138,NM_001278642.1;EDIL3,non_coding_transcript_exon_variant,,ENST00000507663,;							MODERATE	287/1443	R96L	EDIL3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000296591		CCDS4062.1			1	
DNMBP	0	LGGM	GRCh37	10	101715455	101715455	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	23	6	.	.	ENST00000324109.4:c.1776C>T	p.Ser592=	p.S592=	ENST00000324109	NM_015221.2	592	tcC/tcT	0	1	1	UPI000013D6C9	0		ENST00000324109		ENSG00000107554	30373		29			HGNC	p.S592S		DNMBP		SNV							ENST00000342239	protein_coding			hmmpanther:PTHR22834,hmmpanther:PTHR22834:SF19		S		A		1868/6400				B4E0Q3_HUMAN			YES	DNMBP,synonymous_variant,p.=,ENST00000342239,;DNMBP,synonymous_variant,p.=,ENST00000324109,NM_015221.2;DNMBP-AS1,non_coding_transcript_exon_variant,,ENST00000434409,;							LOW	1776/4734		DNMBP_HUMAN			Transcript			.	ENSP00000315659		CCDS7485.1			1	
OR1S1	0	LGGM	GRCh37	11	57982678	57982678	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	68	6	.	.	ENST00000309433.6:c.462C>A	p.Gly154=	p.G154=	ENST00000309433	NM_001004458.1	154	ggC/ggA	0	1	1	UPI0000041C51	0		ENST00000309433		ENSG00000172774	8227		74			HGNC	p.G154G		OR1S1		SNV							ENST00000309433	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		G		A		462/979							YES	OR1S1,synonymous_variant,p.=,ENST00000309433,NM_001004458.1;							LOW	462/978		OR1S1_HUMAN			Transcript			.	ENSP00000311688		CCDS31546.1			1	
GCK	0	LGGM	GRCh37	7	44228543	44228543	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	24	6	.	.	ENST00000403799.3:c.10G>T	p.Asp4Tyr	p.D4Y	ENST00000403799	NM_000162.3	4	Gac/Tac	0	1	1	UPI0000036BD4	0	NA	ENST00000403799		ENSG00000106633	4195		30	0		HGNC	p.D4Y		GCK		SNV			1				ENST00000403799	protein_coding	getma.org/?cm=var&var=hg19,7,44228543,C,A&fts=all		hmmpanther:PTHR19443:SF3,hmmpanther:PTHR19443		D/Y		A	neutral	480/2729		getma.org/?cm=msa&ty=f&p=HXK4_HUMAN&rb=1&re=39&var=D4Y	tolerated(0.09)	M4PS83_HUMAN,M4PPE1_HUMAN,Q53Y25_HUMAN				GCK,missense_variant,p.Asp4Tyr,ENST00000403799,NM_000162.3;GCK,missense_variant,p.Asp4Tyr,ENST00000437084,;GCK,intron_variant,,ENST00000476008,;							MODERATE	10/1398	D4Y	HXK4_HUMAN			Transcript		benign(0.017)	.	ENSP00000384247		CCDS5479.1			1	
ZNF280A	0	LGGM	GRCh37	22	22869759	22869759	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	45	6	.	.	ENST00000302097.3:c.196G>T	p.Val66Phe	p.V66F	ENST00000302097	NM_080740.3	66	Gtc/Ttc	0	1	1	UPI000013E78F	0	NA	ENST00000302097		ENSG00000169548	18597		51	1.87		HGNC	p.V66F		ZNF280A		SNV							ENST00000302097	protein_coding	getma.org/?cm=var&var=hg19,22,22869759,C,A&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF121,Pfam_domain:PF13836		V/F		A	low	449/2148		getma.org/?cm=msa&ty=f&p=Z280A_HUMAN&rb=47&re=219&var=V66F	deleterious(0)				YES	ZNF280A,missense_variant,p.Val66Phe,ENST00000302097,NM_080740.3;snoU13,upstream_gene_variant,,ENST00000459485,;							MODERATE	196/1629	V66F	Z280A_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000302855		CCDS13800.1			1	
CENPC	0	LGGM	GRCh37	4	68380240	68380240	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	81	6	.	.	ENST00000273853.6:c.996A>G	p.Ile332Met	p.I332M	ENST00000273853	NM_001812.2	332	atA/atG	0	1	1	UPI00004135A3	0	NA	ENST00000273853		ENSG00000145241	1854		87	0.345		HGNC	p.I332M		CENPC		SNV							ENST00000506882	protein_coding	getma.org/?cm=var&var=hg19,4,68380240,T,C&fts=all		hmmpanther:PTHR16684,Pfam_domain:PF15620		I/M		C	neutral	1247/3885		getma.org/?cm=msa&ty=f&p=CENPC_HUMAN&rb=324&re=512&var=I332M	deleterious(0.01)				YES	CENPC,missense_variant,p.Ile332Met,ENST00000273853,NM_001812.2;CENPC,missense_variant,p.Ile332Met,ENST00000506882,;CENPC,missense_variant,p.Ile239Met,ENST00000513216,;CENPC,non_coding_transcript_exon_variant,,ENST00000510189,;CENPC,upstream_gene_variant,,ENST00000506410,;							MODERATE	996/2832	I332M	CENPC_HUMAN			Transcript		benign(0.102)	.	ENSP00000273853		CCDS47063.1			1	
VTCN1	0	LGGM	GRCh37	1	117695862	117695862	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	61	7	.	.	ENST00000369458.3:c.575C>A	p.Ser192Ter	p.S192*	ENST00000369458	NM_024626.3	192	tCg/tAg	0	1	1	UPI00000389E3	0	NA	ENST00000369458		ENSG00000134258	28873		68	0		HGNC	p.S97X		VTCN1		SNV							ENST00000539893	protein_coding	getma.org/?cm=var&var=hg19,1,117695862,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13927,PROSITE_profiles:PS50835,hmmpanther:PTHR24100,hmmpanther:PTHR24100:SF0,Superfamily_domains:SSF48726		S/*		T	NA	654/2612		NA					YES	VTCN1,stop_gained,p.Ser192Ter,ENST00000369458,NM_024626.3;VTCN1,stop_gained,p.Ser195Ter,ENST00000359008,;VTCN1,stop_gained,p.Ser76Ter,ENST00000328189,NM_001253850.1;VTCN1,stop_gained,p.Ser97Ter,ENST00000539893,NM_001253849.1;VTCN1,non_coding_transcript_exon_variant,,ENST00000463461,;VTCN1,downstream_gene_variant,,ENST00000488493,;							HIGH	575/849	S192*	VTCN1_HUMAN			Transcript			.	ENSP00000358470		CCDS894.1			1	
TXLNB	0	LGGM	GRCh37	6	139563948	139563948	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	27	7	.	.	ENST00000358430.3:c.1770C>T	p.Cys590=	p.C590=	ENST00000358430	NM_153235.3	590	tgC/tgT	0	1	1	UPI0000072983	0		ENST00000358430		ENSG00000164440	21617		34			HGNC	p.C590C		TXLNB		SNV							ENST00000358430	protein_coding			hmmpanther:PTHR16127,hmmpanther:PTHR16127:SF10		C		A		2003/4753				H0UI60_HUMAN			YES	TXLNB,synonymous_variant,p.=,ENST00000358430,NM_153235.3;RP1-225E12.2,upstream_gene_variant,,ENST00000588529,;RP1-225E12.2,upstream_gene_variant,,ENST00000587814,;RP1-225E12.2,upstream_gene_variant,,ENST00000587577,;RP1-225E12.2,upstream_gene_variant,,ENST00000589192,;RP1-225E12.2,upstream_gene_variant,,ENST00000588638,;RP1-225E12.2,upstream_gene_variant,,ENST00000585447,;RP1-225E12.2,upstream_gene_variant,,ENST00000591102,;RP1-225E12.2,upstream_gene_variant,,ENST00000590679,;RP1-225E12.2,upstream_gene_variant,,ENST00000586229,;RP1-225E12.2,upstream_gene_variant,,ENST00000586266,;RP1-225E12.2,upstream_gene_variant,,ENST00000415194,;RP1-225E12.2,upstream_gene_variant,,ENST00000587333,;RP1-225E12.2,upstream_gene_variant,,ENST00000592557,;RP1-225E12.2,upstream_gene_variant,,ENST00000590219,;RP1-225E12.3,intron_variant,,ENST00000585874,;							LOW	1770/2055		TXLNB_HUMAN			Transcript			.	ENSP00000351206		CCDS34545.1			1	
NHSL1	0	LGGM	GRCh37	6	138752925	138752925	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	31	7	.	.	ENST00000427025.2:c.2569T>C	p.Ser857Pro	p.S857P	ENST00000427025	NM_020464.1	857	Tcc/Ccc	0	1	1	UPI0001750345	0	NA	ENST00000427025		ENSG00000135540	21021		38	2.505		HGNC	p.S853P		NHSL1		SNV							ENST00000343505	protein_coding	getma.org/?cm=var&var=hg19,6,138752925,A,G&fts=all		Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF3		S/P		G	medium	3198/7500		getma.org/?cm=msa&ty=f&p=NHSL1_HUMAN&rb=351&re=919&var=S857P	deleterious(0.01)	B4DS58_HUMAN			YES	NHSL1,missense_variant,p.Ser857Pro,ENST00000427025,NM_020464.1;NHSL1,missense_variant,p.Ser853Pro,ENST00000343505,NM_001144060.1;NHSL1,downstream_gene_variant,,ENST00000342260,;MIR3145,downstream_gene_variant,,ENST00000580727,;							MODERATE	2569/4833	S857P	NHSL1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000394546		CCDS55063.1			1	
GABBR2	0	LGGM	GRCh37	9	101168367	101168367	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	37	8	.	.	ENST00000259455.2:c.1293T>C	p.Phe431=	p.F431=	ENST00000259455	NM_005458.7	431	ttT/ttC	0	1	1	UPI0000035832	0		ENST00000259455		ENSG00000136928	4507		45			HGNC	p.F431F		GABBR2		SNV							ENST00000259455	protein_coding			Prints_domain:PR01178,hmmpanther:PTHR10519,hmmpanther:PTHR10519:SF34,Superfamily_domains:SSF53822		F		G		1753/5761				H9NIL8_HUMAN			YES	GABBR2,synonymous_variant,p.=,ENST00000259455,NM_005458.7;							LOW	1293/2826		GABR2_HUMAN			Transcript			.	ENSP00000259455		CCDS6736.1			1	
ACSM2B	0	LGGM	GRCh37	16	20556542	20556542	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	17	8	.	.	ENST00000329697.6:c.1218A>G	p.Thr406=	p.T406=	ENST00000329697	NM_001105069.1	406	acA/acG	0	1	1	UPI00001AFAA7	0		ENST00000329697		ENSG00000066813	30931		25			HGNC	p.T406T		ACSM2B		SNV							ENST00000329697	protein_coding			Superfamily_domains:SSF56801,Gene3D:2.30.38.10,Pfam_domain:PF00501,hmmpanther:PTHR24095:SF140,hmmpanther:PTHR24095		T		C		1387/2935				H3BTX9_HUMAN,H3BQ84_HUMAN,H3BP79_HUMAN,H3BM61_HUMAN			YES	ACSM2B,synonymous_variant,p.=,ENST00000329697,NM_001105069.1;ACSM2B,synonymous_variant,p.=,ENST00000565232,;ACSM2B,synonymous_variant,p.=,ENST00000567001,NM_182617.3;ACSM2B,synonymous_variant,p.=,ENST00000565322,;ACSM2B,downstream_gene_variant,,ENST00000569163,;ACSM2B,upstream_gene_variant,,ENST00000568098,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000567288,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569131,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000566998,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000569364,;ACSM2B,non_coding_transcript_exon_variant,,ENST00000563943,;ACSM2B,downstream_gene_variant,,ENST00000569327,;ACSM2B,upstream_gene_variant,,ENST00000564849,;							LOW	1218/1734		ACS2B_HUMAN			Transcript			.	ENSP00000327453		CCDS10586.1			1	
TRIM22	0	LGGM	GRCh37	11	5730440	5730440	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	49	8	.	.	ENST00000379965.3:c.1059G>T	p.Gly353=	p.G353=	ENST00000379965	NM_001199573.1	353	ggG/ggT	0	1	1	UPI0000074222	0		ENST00000379965		ENSG00000132274	16379		57			HGNC	p.G353G		TRIM22		SNV							ENST00000379965	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF265,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899,Prints_domain:PR01407		G		T		1336/2989				C9JIU5_HUMAN,C9J060_HUMAN			YES	TRIM22,synonymous_variant,p.=,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,;							LOW	1059/1497		TRI22_HUMAN			Transcript			.	ENSP00000369299		CCDS41612.1			1	
BZW2	0	LGGM	GRCh37	7	16736656	16736656	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	29	8	.	.	ENST00000433922.2:c.939T>A	p.Leu313=	p.L313=	ENST00000433922	NM_001159767.1	313	ctT/ctA	0	1		UPI000003B445	0		ENST00000258761		ENSG00000136261	18808		37			HGNC	p.L313L		BZW2		SNV							ENST00000258761	protein_coding			PROSITE_profiles:PS51363,hmmpanther:PTHR14208:SF1,hmmpanther:PTHR14208,Gene3D:1.25.40.180,Superfamily_domains:SSF48371		L		A		1104/1860				Q75MG1_HUMAN,E7ETZ4_HUMAN,E7EMS9_HUMAN,C9JF98_HUMAN,B5MCH7_HUMAN,B5MCE7_HUMAN				BZW2,synonymous_variant,p.=,ENST00000433922,NM_001159767.1;BZW2,synonymous_variant,p.=,ENST00000258761,NM_014038.2;BZW2,synonymous_variant,p.=,ENST00000405202,;BZW2,synonymous_variant,p.=,ENST00000415365,;BZW2,synonymous_variant,p.=,ENST00000407633,;BZW2,3_prime_UTR_variant,,ENST00000452975,;BZW2,downstream_gene_variant,,ENST00000446596,;AC073333.8,intron_variant,,ENST00000418907,;BZW2,non_coding_transcript_exon_variant,,ENST00000432311,;BZW2,3_prime_UTR_variant,,ENST00000436868,;BZW2,3_prime_UTR_variant,,ENST00000437745,;							LOW	939/1260		BZW2_HUMAN			Transcript			.	ENSP00000258761		CCDS5362.1			1	
ZNF484	0	LGGM	GRCh37	9	95610822	95610822	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	24	9	.	.	ENST00000395506.3:c.253G>T	p.Gly85Cys	p.G85C	ENST00000395506		85	Ggt/Tgt	0	1		UPI00001B64FA	0	NA	ENST00000375495		ENSG00000127081	23385		33	1.24		HGNC	p.G85C		ZNF484		SNV							ENST00000395506	protein_coding	getma.org/?cm=var&var=hg19,9,95610822,C,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF144		G/C		A	low	396/2867		getma.org/?cm=msa&ty=f&p=ZN484_HUMAN&rb=49&re=248&var=G83C	tolerated(0.1)					ZNF484,missense_variant,p.Gly47Cys,ENST00000395505,NM_001261460.1,NM_001261459.1;ZNF484,missense_variant,p.Gly83Cys,ENST00000375495,NM_031486.2;ZNF484,missense_variant,p.Gly85Cys,ENST00000395506,;ZNF484,missense_variant,p.Gly47Cys,ENST00000332591,NM_001007101.2,NM_001261458.1;ANKRD19P,intron_variant,,ENST00000473204,;							MODERATE	247/2559	G83C	ZN484_HUMAN			Transcript		benign(0.066)	.	ENSP00000364645		CCDS35066.1			1	
HNRNPA2B1	0	LGGM	GRCh37	7	26237343	26237343	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	31	9	.	.	ENST00000354667.4:c.52G>A	p.Glu18Lys	p.E18K	ENST00000354667	NM_031243.2	18	Gaa/Aaa	0	1	1	UPI000002F091	0	getma.org/pdb.php?prot=ROA2_HUMAN&from=1&to=22&var=E18K	ENST00000354667		ENSG00000122566	5033		40	1.38		HGNC	p.E18K		HNRNPA2B1		SNV			1				ENST00000354667	protein_coding	getma.org/?cm=var&var=hg19,7,26237343,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF329,hmmpanther:PTHR24012,Gene3D:3.30.70.330		E/K		T	low	221/3664		getma.org/?cm=msa&ty=f&p=ROA2_HUMAN&rb=1&re=52&var=E18K	tolerated(0.09)				YES	HNRNPA2B1,missense_variant,p.Glu18Lys,ENST00000354667,NM_031243.2;HNRNPA2B1,missense_variant,p.Glu6Lys,ENST00000356674,NM_002137.3;CBX3,upstream_gene_variant,,ENST00000337620,NM_007276.4;CBX3,upstream_gene_variant,,ENST00000396386,NM_016587.3;CBX3,upstream_gene_variant,,ENST00000409747,;CBX3,upstream_gene_variant,,ENST00000456948,;CBX3,upstream_gene_variant,,ENST00000497498,;HNRNPA2B1,missense_variant,p.Glu18Lys,ENST00000360787,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000463181,;HNRNPA2B1,non_coding_transcript_exon_variant,,ENST00000490912,;HNRNPA2B1,upstream_gene_variant,,ENST00000495810,;							MODERATE	52/1062	E18K	ROA2_HUMAN			Transcript		possibly_damaging(0.574)	.	ENSP00000346694		CCDS43557.1			1	
FSIP2	0	LGGM	GRCh37	2	186667396	186667396	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	76	10	.	.	ENST00000343098.5:c.13630C>A	p.Gln4544Lys	p.Q4544K	ENST00000343098	NM_173651.2	4544	Cag/Aag	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		86	0.55		HGNC	p.Q4455K		FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186667396,C,A&fts=all		hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		Q/K		A	neutral	13363/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=4311&re=4510&var=Q4455K						FSIP2,missense_variant,p.Gln4544Lys,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Gln4455Lys,ENST00000424728,;AC008174.3,upstream_gene_variant,,ENST00000436557,;AC008174.3,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;							MODERATE	13363/20724	Q4455K	FSIP2_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000401306					1	
KALRN	0	LGGM	GRCh37	3	124376602	124376602	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	39	11	.	.	ENST00000291478.5:c.894A>T	p.Glu298Asp	p.E298D	ENST00000291478	NM_007064.3	298	gaA/gaT	0	1	1	UPI00001AEB7E	0	getma.org/pdb.php?prot=KALRN_HUMAN&from=1932&to=2102&var=E1994D	ENST00000291478		ENSG00000160145	4814		50	2.97		HGNC	p.E266D		KALRN		SNV			1				ENST00000428018	protein_coding	getma.org/?cm=var&var=hg19,3,124376602,A,T&fts=all		PROSITE_profiles:PS50010,hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF49,Pfam_domain:PF00621,Gene3D:1.20.900.10,SMART_domains:SM00325,Superfamily_domains:SSF48065		E/D		T	medium	1057/10888		getma.org/?cm=msa&ty=f&p=KALRN_HUMAN&rb=1932&re=2102&var=E1994D	deleterious(0)					KALRN,missense_variant,p.Glu298Asp,ENST00000291478,NM_007064.3;KALRN,missense_variant,p.Glu1995Asp,ENST00000360013,NM_001024660.3;KALRN,missense_variant,p.Glu1964Asp,ENST00000354186,;KALRN,missense_variant,p.Glu266Asp,ENST00000428018,;KALRN,missense_variant,p.Glu336Asp,ENST00000393496,;KALRN,missense_variant,p.Glu87Asp,ENST00000459915,;							MODERATE	894/3870	E1994D	KALRN_HUMAN			Transcript		possibly_damaging(0.684)	.	ENSP00000291478		CCDS3028.1			1	
BMP5	0	LGGM	GRCh37	6	55739289	55739289	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	49	11	.	.	ENST00000370830.3:c.375T>C	p.Arg125=	p.R125=	ENST00000370830	NM_021073.2	125	cgT/cgC	0	1	1	UPI0000126A2C	0		ENST00000370830		ENSG00000112175	1072		60			HGNC	p.R125R		BMP5		SNV							ENST00000370830	protein_coding			hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF139,Pfam_domain:PF00688		R		G		1074/3952				M9VUD0_HUMAN			YES	BMP5,synonymous_variant,p.=,ENST00000370830,NM_021073.2;BMP5,synonymous_variant,p.=,ENST00000446683,;							LOW	375/1365		BMP5_HUMAN			Transcript			.	ENSP00000359866		CCDS4958.1			1	
GTSF1	0	LGGM	GRCh37	12	54857035	54857035	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	36	11	.	.	ENST00000552397.1:c.164C>T	p.Ala55Val	p.A55V	ENST00000552397		55	gCt/gTt	0	1		UPI0000169CBC	0	NA	ENST00000305879		ENSG00000170627	26565		47	2.675		HGNC	p.A55V		GTSF1		SNV							ENST00000305879	protein_coding	getma.org/?cm=var&var=hg19,12,54857035,G,A&fts=all		Pfam_domain:PF05253,hmmpanther:PTHR21402,hmmpanther:PTHR21402:SF4		A/V		A	medium	247/804		getma.org/?cm=msa&ty=f&p=GTSF1_HUMAN&rb=27&re=93&var=A55V	deleterious(0)					GTSF1,missense_variant,p.Ala55Val,ENST00000552397,;GTSF1,missense_variant,p.Ala55Val,ENST00000305879,NM_144594.2;RP11-753H16.3,intron_variant,,ENST00000550474,;RP11-753H16.5,intron_variant,,ENST00000552785,;GTSF1,non_coding_transcript_exon_variant,,ENST00000552395,;GTSF1,downstream_gene_variant,,ENST00000548538,;GTSF1,upstream_gene_variant,,ENST00000552336,;GTSF1,missense_variant,p.Ala55Val,ENST00000546931,;GTSF1,non_coding_transcript_exon_variant,,ENST00000546575,;GTSF1,downstream_gene_variant,,ENST00000546739,;							MODERATE	164/504	A55V	GTSF1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304185		CCDS8881.1			1	
C17orf104	0	LGGM	GRCh37	17	42751476	42751476	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	44	12	.	.	ENST00000409122.2:c.2771A>C	p.Gln924Pro	p.Q924P	ENST00000409122	NM_001145080.2	924	cAa/cCa	0	1	1	UPI0001881A86	0	NA	ENST00000409122		ENSG00000180336	26670		56	0.345		HGNC	p.Q924P		C17orf104		SNV							ENST00000409122	protein_coding	getma.org/?cm=var&var=hg19,17,42751476,A,C&fts=all				Q/P		C	neutral	2913/4604		getma.org/?cm=msa&ty=f&p=CQ104_HUMAN&rb=73&re=950&var=Q924P	tolerated(0.12)	C9JYK8_HUMAN,C9J4A2_HUMAN			YES	C17orf104,missense_variant,p.Gln924Pro,ENST00000409122,NM_001145080.2;CCDC43,intron_variant,,ENST00000588687,;C17orf104,downstream_gene_variant,,ENST00000409464,;C17orf104,downstream_gene_variant,,ENST00000359945,;CCDC43,downstream_gene_variant,,ENST00000315286,NM_144609.2;CCDC43,downstream_gene_variant,,ENST00000588210,;CCDC43,downstream_gene_variant,,ENST00000457422,NM_001099225.1;RP11-1072C15.4,non_coding_transcript_exon_variant,,ENST00000591628,;C17orf104,upstream_gene_variant,,ENST00000588805,;C17orf104,intron_variant,,ENST00000472403,;							MODERATE	2771/2859	Q924P	CQ104_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000386452		CCDS45703.2			1	
SIK2	0	LGGM	GRCh37	11	111582971	111582971	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	43	12	.	.	ENST00000304987.3:c.1138C>T	p.Pro380Ser	p.P380S	ENST00000304987	NM_015191.1	380	Ccg/Tcg	0	1	1	UPI000006F406	0	NA	ENST00000304987		ENSG00000170145	21680		55	1.495		HGNC	p.P380S		SIK2		SNV							ENST00000304987	protein_coding	getma.org/?cm=var&var=hg19,11,111582971,C,T&fts=all		PIRSF_domain:PIRSF037014,hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF145		P/S		T	low	1311/9678		getma.org/?cm=msa&ty=f&p=SIK2_HUMAN&rb=272&re=471&var=P380S	tolerated(0.44)				YES	SIK2,missense_variant,p.Pro380Ser,ENST00000304987,NM_015191.1;							MODERATE	1138/2781	P380S	SIK2_HUMAN			Transcript		benign(0.05)	.	ENSP00000305976		CCDS8347.1			1	
ACVR1C	0	LGGM	GRCh37	2	158400958	158400958	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	47	12	.	.	ENST00000243349.8:c.942A>C	p.Gln314His	p.Q314H	ENST00000243349	NM_001111032.1	314	caA/caC	0	1	1	UPI000006CFAE	0	getma.org/pdb.php?prot=ACV1C_HUMAN&from=195&to=482&var=Q314H	ENST00000243349		ENSG00000123612	18123		59	1.5		HGNC	p.Q264H		ACVR1C		SNV							ENST00000409680	protein_coding	getma.org/?cm=var&var=hg19,2,158400958,T,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF58,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Q/H		G	low	1303/8994		getma.org/?cm=msa&ty=f&p=ACV1C_HUMAN&rb=195&re=482&var=Q314H	deleterious(0.01)	Q53SF5_HUMAN			YES	ACVR1C,missense_variant,p.Gln314His,ENST00000243349,NM_001111032.1,NM_145259.2;ACVR1C,missense_variant,p.Gln264His,ENST00000409680,NM_001111031.1;ACVR1C,missense_variant,p.Gln234His,ENST00000335450,;ACVR1C,missense_variant,p.Gln157His,ENST00000348328,NM_001111033.1;							MODERATE	942/1482	Q314H	ACV1C_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000243349		CCDS2205.1			1	
BRD1	0	LGGM	GRCh37	22	50216844	50216844	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	74	12	.	.	ENST00000216267.8:c.1122C>T	p.Gly374=	p.G374=	ENST00000216267	NM_014577.1	374	ggC/ggT	0	1	1	UPI0000126ACA	0		ENST00000216267		ENSG00000100425	1102		86			HGNC	p.G6G		BRD1		SNV							ENST00000438393	protein_coding			hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF17,Pfam_domain:PF13832,SMART_domains:SM00249		G		A		1609/4614				Q659H0_HUMAN			YES	BRD1,synonymous_variant,p.=,ENST00000216267,NM_014577.1;BRD1,synonymous_variant,p.=,ENST00000404760,;BRD1,synonymous_variant,p.=,ENST00000457780,;BRD1,synonymous_variant,p.=,ENST00000404034,;BRD1,synonymous_variant,p.=,ENST00000542442,;BRD1,5_prime_UTR_variant,,ENST00000342989,;BRD1,non_coding_transcript_exon_variant,,ENST00000459821,;BRD1,non_coding_transcript_exon_variant,,ENST00000494833,;BRD1,synonymous_variant,p.=,ENST00000438393,;							LOW	1122/3177		BRD1_HUMAN			Transcript			.	ENSP00000216267		CCDS14080.1			1	
IBTK	0	LGGM	GRCh37	6	82925891	82925891	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	35	12	.	.	ENST00000306270.7:c.1503T>C	p.Ile501=	p.I501=	ENST00000306270	NM_015525.2	501	atT/atC	0	1	1	UPI000041929F	0		ENST00000306270		ENSG00000005700	17853		47			HGNC	p.I501I		IBTK		SNV							ENST00000503631	protein_coding			hmmpanther:PTHR22872,hmmpanther:PTHR22872:SF2		I		G		2053/6054							YES	IBTK,synonymous_variant,p.=,ENST00000306270,NM_015525.2;IBTK,synonymous_variant,p.=,ENST00000510291,;IBTK,synonymous_variant,p.=,ENST00000503631,;IBTK,3_prime_UTR_variant,,ENST00000503400,;IBTK,non_coding_transcript_exon_variant,,ENST00000505222,;IBTK,non_coding_transcript_exon_variant,,ENST00000369751,;							LOW	1503/4062		IBTK_HUMAN			Transcript			.	ENSP00000305721		CCDS34490.1			1	
ELK3	0	LGGM	GRCh37	12	96641331	96641331	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	51	14	.	.	ENST00000228741.3:c.821T>G	p.Leu274Trp	p.L274W	ENST00000228741	NM_005230.2	274	tTg/tGg	0	1	1	UPI0000000E09	0	NA	ENST00000228741		ENSG00000111145	3325		65	2.095		HGNC	p.L274W		ELK3		SNV							ENST00000228741	protein_coding	getma.org/?cm=var&var=hg19,12,96641331,T,G&fts=all		hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF172		L/W		G	medium	1147/4205		getma.org/?cm=msa&ty=f&p=ELK3_HUMAN&rb=88&re=287&var=L274W	deleterious(0.02)	F8VZQ0_HUMAN,F8VUJ0_HUMAN			YES	ELK3,missense_variant,p.Leu274Trp,ENST00000228741,NM_005230.2;ELK3,intron_variant,,ENST00000552142,;ELK3,downstream_gene_variant,,ENST00000547860,;ELK3,intron_variant,,ENST00000549985,;							MODERATE	821/1224	L274W	ELK3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000228741		CCDS9060.1			1	
GALNTL6	0	LGGM	GRCh37	4	173269726	173269726	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	52	14	.	.	ENST00000506823.1:c.439C>T	p.Pro147Ser	p.P147S	ENST00000506823	NM_001034845.2	147	Cca/Tca	0	1	1	UPI000058EB5C	0	getma.org/pdb.php?prot=GLTL6_HUMAN&from=143&to=328&var=P147S	ENST00000506823		ENSG00000174473	33844		66	2.8		HGNC	p.P130S		GALNTL6		SNV							ENST00000508122	protein_coding	getma.org/?cm=var&var=hg19,4,173269726,C,T&fts=all		Superfamily_domains:SSF53448,Pfam_domain:PF00535,Gene3D:3.90.550.10,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34		P/S		T	medium	1096/3922		getma.org/?cm=msa&ty=f&p=GLTL6_HUMAN&rb=143&re=328&var=P147S	tolerated(0.08)	E5D8G0_HUMAN			YES	GALNTL6,missense_variant,p.Pro147Ser,ENST00000506823,NM_001034845.2;GALNTL6,missense_variant,p.Pro130Ser,ENST00000508122,;GALNTL6,non_coding_transcript_exon_variant,,ENST00000457021,;							MODERATE	439/1806	P147S	GLTL6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000423313		CCDS34104.1			1	
SYNGR4	0	LGGM	GRCh37	19	48876911	48876911	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	56	14	.	.	ENST00000344846.2:c.231C>A	p.Phe77Leu	p.F77L	ENST00000344846	NM_012451.3	77	ttC/ttA	0	1	1	UPI000013C7EB	0	NA	ENST00000344846		ENSG00000105467	11502		70	2.495		HGNC	p.F77L		SYNGR4		SNV							ENST00000344846	protein_coding	getma.org/?cm=var&var=hg19,19,48876911,C,A&fts=all		Pfam_domain:PF01284,PIRSF_domain:PIRSF011282,PROSITE_profiles:PS51225,hmmpanther:PTHR10838,hmmpanther:PTHR10838:SF2,Transmembrane_helices:TMhelix		F/L		A	medium	481/1000		getma.org/?cm=msa&ty=f&p=SNG4_HUMAN&rb=18&re=163&var=F77L	deleterious(0.03)	M0QYL0_HUMAN			YES	SYNGR4,missense_variant,p.Phe77Leu,ENST00000344846,NM_012451.3;SYNGR4,missense_variant,p.Phe28Leu,ENST00000601610,;SYNGR4,missense_variant,p.Phe28Leu,ENST00000595322,;SYNGR4,missense_variant,p.Phe28Leu,ENST00000600863,;							MODERATE	231/705	F77L	SNG4_HUMAN			Transcript		benign(0.269)	.	ENSP00000344041		CCDS12717.1			1	
MARCH7	0	LGGM	GRCh37	2	160615808	160615808	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110772	H110772N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	63	14	.	.	ENST00000259050.4:c.1855G>A	p.Asp619Asn	p.D619N	ENST00000259050	NM_022826.2	619	Gat/Aat	0	1	1	UPI00000733EE	0	NA	ENST00000259050		ENSG00000136536	17393		77	0.785		HGNC	p.D619N		MARCH7		SNV							ENST00000259050	protein_coding	getma.org/?cm=var&var=hg19,2,160615808,G,A&fts=all		hmmpanther:PTHR14471:SF1,hmmpanther:PTHR14471		D/N		A	neutral	1977/5922		getma.org/?cm=msa&ty=f&p=MARH7_HUMAN&rb=608&re=704&var=D619N	deleterious(0.03)	C9J159_HUMAN			YES	MARCH7,missense_variant,p.Asp619Asn,ENST00000259050,NM_022826.2,NM_001282805.1;MARCH7,missense_variant,p.Asp619Asn,ENST00000409175,;MARCH7,missense_variant,p.Asp563Asn,ENST00000539065,NM_001282806.1;MARCH7,missense_variant,p.Asp581Asn,ENST00000409591,NM_001282807.1;MARCH7,missense_variant,p.Asp52Asn,ENST00000420397,;MARCH7,non_coding_transcript_exon_variant,,ENST00000478396,;							MODERATE	1855/2115	D619N	MARH7_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000259050		CCDS2210.1			1	
THRA	0	LGGM	GRCh37	17	38245595	38245595	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	61	15	.	.	ENST00000264637.4:c.1110+9C>T		*370*	ENST00000264637	NM_003250.5			0	1	1	UPI0000136D1E	0		ENST00000264637		ENSG00000126351	11796		76			HGNC	p.D373D		THRA		SNV			1				ENST00000546243	protein_coding							T		-/2538				J3QRW5_HUMAN,J3QRA9_HUMAN,J3QR26_HUMAN,J3KTF3_HUMAN			YES	THRA,synonymous_variant,p.=,ENST00000450525,NM_199334.3;THRA,synonymous_variant,p.=,ENST00000546243,;THRA,intron_variant,,ENST00000264637,NM_003250.5;THRA,intron_variant,,ENST00000584985,NM_001190918.1;THRA,intron_variant,,ENST00000394121,NM_001190919.1;NR1D1,downstream_gene_variant,,ENST00000246672,NM_021724.4;THRA,downstream_gene_variant,,ENST00000577637,;							MODIFIER	-/1473		THA_HUMAN			Transcript			.	ENSP00000264637		CCDS11360.1			1	
COL6A6	0	LGGM	GRCh37	3	130300492	130300492	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	96	15	.	.	ENST00000358511.6:c.3635C>A	p.Thr1212Asn	p.T1212N	ENST00000358511	NM_001102608.1	1212	aCc/aAc	0	1	1	UPI00015B6548	0	NA	ENST00000358511		ENSG00000206384	27023		111	1.1		HGNC	p.T1212N		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130300492,C,A&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		T/N		A	low	3666/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=1187&re=1371&var=T1212N	tolerated(0.1)				YES	COL6A6,missense_variant,p.Thr1212Asn,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Thr1212Asn,ENST00000453409,;COL6A6,upstream_gene_variant,,ENST00000511332,;COL6A6,upstream_gene_variant,,ENST00000506143,;							MODERATE	3635/6792	T1212N	CO6A6_HUMAN			Transcript		possibly_damaging(0.448)	.	ENSP00000351310		CCDS46911.1			1	
DIEXF	0	LGGM	GRCh37	1	210015689	210015689	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110772	H110772N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	55	15	.	.	ENST00000491415.2:c.1565A>G	p.Asn522Ser	p.N522S	ENST00000491415	NM_014388.6	522	aAt/aGt	0	1	1	UPI000006D987	0	NA	ENST00000491415		ENSG00000117597	28440		70	1.675		HGNC	p.N522S		DIEXF		SNV							ENST00000491415	protein_coding	getma.org/?cm=var&var=hg19,1,210015689,A,G&fts=all		hmmpanther:PTHR12933,Pfam_domain:PF06862,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		N/S		G	low	1622/8446		getma.org/?cm=msa&ty=f&p=DIEXF_HUMAN&rb=313&re=751&var=N522S	tolerated(0.05)	B3KVX2_HUMAN			YES	DIEXF,missense_variant,p.Asn522Ser,ENST00000491415,NM_014388.6;DIEXF,missense_variant,p.Asn203Ser,ENST00000457820,;							MODERATE	1565/2271	N522S	DIEXF_HUMAN			Transcript		benign(0.133)	.	ENSP00000419005		CCDS1493.1			1	
COL6A3	0	LGGM	GRCh37	2	238285829	238285829	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	63	16	.	.	ENST00000295550.4:c.2656G>T	p.Val886Leu	p.V886L	ENST00000295550	NM_004369.3	886	Gtg/Ttg	0	1	1	UPI0000456F39	0	getma.org/pdb.php?prot=CO6A3_HUMAN&from=837&to=1009&var=V886L	ENST00000295550		ENSG00000163359	2213		79	1.205		HGNC	p.V279L		COL6A3		SNV			1				ENST00000472056	protein_coding	getma.org/?cm=var&var=hg19,2,238285829,C,A&fts=all		Gene3D:3.40.50.410,Pfam_domain:PF00092,PROSITE_profiles:PS50234,hmmpanther:PTHR22992,hmmpanther:PTHR22992:SF83,SMART_domains:SM00327,Superfamily_domains:SSF53300		V/L		A	low	3109/10749		getma.org/?cm=msa&ty=f&p=CO6A3_HUMAN&rb=837&re=1009&var=V886L		Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	COL6A3,missense_variant,p.Val886Leu,ENST00000295550,NM_004369.3;COL6A3,missense_variant,p.Val685Leu,ENST00000347401,;COL6A3,missense_variant,p.Val680Leu,ENST00000353578,NM_057167.3;COL6A3,missense_variant,p.Val686Leu,ENST00000346358,;COL6A3,missense_variant,p.Val680Leu,ENST00000409809,;COL6A3,missense_variant,p.Val279Leu,ENST00000472056,NM_057166.4;COL6A3,missense_variant,p.Val680Leu,ENST00000392004,NM_057165.4;COL6A3,missense_variant,p.Val479Leu,ENST00000392003,NM_057164.4;COL6A3,missense_variant,p.Val686Leu,ENST00000433762,;							MODERATE	2656/9534	V886L	CO6A3_HUMAN			Transcript		benign(0.123)	.	ENSP00000295550		CCDS33412.1			1	
KIF4B	0	LGGM	GRCh37	5	154395266	154395266	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	77	17	.	.	ENST00000435029.4:c.1847T>C	p.Leu616Pro	p.L616P	ENST00000435029	NM_001099293.1	616	cTg/cCg	0	1	1	UPI000013D5DB	0	NA	ENST00000435029		ENSG00000226650	6322		94	2.22		HGNC	p.L616P	rs375089807	KIF4B		SNV	C:0						ENST00000435029	protein_coding	getma.org/?cm=var&var=hg19,5,154395266,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF392		L/P	C:0.0001	C	medium	2007/4426	1.50E-05	getma.org/?cm=msa&ty=f&p=KIF4B_HUMAN&rb=378&re=1232&var=L616P	deleterious(0)				YES	KIF4B,missense_variant,p.Leu616Pro,ENST00000435029,NM_001099293.1;							MODERATE	1847/3705	L616P	KIF4B_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000387875	8.24E-06	CCDS47324.1			1	
ANK3	0	LGGM	GRCh37	10	61831394	61831394	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	71	17	.	.	ENST00000280772.2:c.9245A>T	p.Gln3082Leu	p.Q3082L	ENST00000280772	NM_020987.3	3082	cAg/cTg	0	1	1	UPI0000141BA9	0	NA	ENST00000280772		ENSG00000151150	494		88	0		HGNC	p.Q3082L		ANK3		SNV			1				ENST00000280772	protein_coding	getma.org/?cm=var&var=hg19,10,61831394,T,A&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15		Q/L		A	neutral	9437/16874		getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=3026&re=3614&var=Q3082L		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Gln3082Leu,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,;							MODERATE	9245/13134	Q3082L	ANK3_HUMAN			Transcript		benign(0.012)	.	ENSP00000280772		CCDS7258.1			1	
PYHIN1	0	LGGM	GRCh37	1	158914828	158914828	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	79	21	.	.	ENST00000368140.1:c.1355C>A	p.Thr452Asn	p.T452N	ENST00000368140	NM_152501.4	452	aCc/aAc	0	1	1	UPI0000225618	0	NA	ENST00000368140		ENSG00000163564	28894		100	0.805		HGNC	p.T443N		PYHIN1		SNV							ENST00000392252	protein_coding	getma.org/?cm=var&var=hg19,1,158914828,C,A&fts=all		hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF14,Low_complexity_(Seg):seg		T/N		A	low	1600/2083		getma.org/?cm=msa&ty=f&p=IFIX_HUMAN&rb=381&re=492&var=T452N	tolerated_low_confidence(0.17)				YES	PYHIN1,missense_variant,p.Thr452Asn,ENST00000368140,NM_152501.4,NM_198928.4,NM_198929.4;PYHIN1,missense_variant,p.Thr443Asn,ENST00000368138,;PYHIN1,missense_variant,p.Thr452Asn,ENST00000392254,;PYHIN1,missense_variant,p.Thr443Asn,ENST00000392252,NM_198930.3;PYHIN1,downstream_gene_variant,,ENST00000368135,;PYHIN1,non_coding_transcript_exon_variant,,ENST00000485134,;							MODERATE	1355/1479	T452N	IFIX_HUMAN			Transcript		benign(0.031)	.	ENSP00000357122		CCDS1178.1			1	
EYA1	0	LGGM	GRCh37	8	72267028	72267028	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	76	21	.	.	ENST00000340726.3:c.113A>G	p.Asn38Ser	p.N38S	ENST00000340726	NM_000503.4	38	aAt/aGt	0	1	1	UPI000012A3B3	0	NA	ENST00000340726		ENSG00000104313	3519		97	1.245		HGNC	p.N38S	rs750274491	EYA1	0.000121	SNV			1				ENST00000303824	protein_coding	getma.org/?cm=var&var=hg19,8,72267028,T,C&fts=all		hmmpanther:PTHR10190:SF11,hmmpanther:PTHR10190		N/S		C	low	753/4326		getma.org/?cm=msa&ty=f&p=EYA1_HUMAN&rb=1&re=590&var=N38S	tolerated(0.09)	Q4A4D0_HUMAN			YES	EYA1,missense_variant,p.Asn38Ser,ENST00000340726,NM_000503.4,NM_001288574.1;EYA1,missense_variant,p.Asn38Ser,ENST00000303824,;EYA1,missense_variant,p.Asn38Ser,ENST00000388742,NM_172058.2,NM_172059.2;EYA1,missense_variant,p.Asn38Ser,ENST00000388743,;EYA1,missense_variant,p.Asn38Ser,ENST00000419131,;EYA1,intron_variant,,ENST00000388740,NM_172060.2;EYA1,intron_variant,,ENST00000388741,;EYA1,missense_variant,p.Asn38Ser,ENST00000465115,NM_001288575.1;EYA1,non_coding_transcript_exon_variant,,ENST00000496494,;							MODERATE	113/1779	N38S	EYA1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000342626	1.65E-05	CCDS34906.1			1	
ZNF225	0	LGGM	GRCh37	19	44635345	44635345	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110772	H110772N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	80	21	.	.	ENST00000262894.6:c.578T>C	p.Ile193Thr	p.I193T	ENST00000262894	NM_013362.2	193	aTt/aCt	0	1	1	UPI000016960F	0	getma.org/pdb.php?prot=ZN225_HUMAN&from=190&to=215&var=I193T	ENST00000262894		ENSG00000256294	13018		101	0.375		HGNC	p.I193T		ZNF225		SNV							ENST00000262894	protein_coding	getma.org/?cm=var&var=hg19,19,44635345,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF20,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		I/T		C	neutral	858/2495		getma.org/?cm=msa&ty=f&p=ZN225_HUMAN&rb=170&re=235&var=I193T	tolerated(0.53)	K7ERU6_HUMAN,K7ENA2_HUMAN			YES	ZNF225,missense_variant,p.Ile193Thr,ENST00000262894,NM_013362.2;ZNF225,missense_variant,p.Ile193Thr,ENST00000590612,;ZNF225,3_prime_UTR_variant,,ENST00000592780,;ZNF225,downstream_gene_variant,,ENST00000589155,;ZNF225,downstream_gene_variant,,ENST00000592360,;							MODERATE	578/2121	I193T	ZN225_HUMAN			Transcript		benign(0.119)	.	ENSP00000262894		CCDS46100.1			1	
OR10J1	0	LGGM	GRCh37	1	159409575	159409575	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110772	H110772N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110772N.bam, H110772T.bam	Illumina HiSeq	44	22	.	.	ENST00000423932.3:c.27C>G	p.Asn9Lys	p.N9K	ENST00000423932	NM_012351.2	9	aaC/aaG	0	1	1	UPI000013E7DA	0	NA	ENST00000423932		ENSG00000196184	8175		66	-0.345		HGNC	p.N9K		OR10J1		SNV							ENST00000423932	protein_coding	getma.org/?cm=var&var=hg19,1,159409575,C,G&fts=all		Gene3D:1.20.1070.10		N/K		G	neutral	64/1089		getma.org/?cm=msa&ty=f&p=O10J1_HUMAN&rb=1&re=51&var=N9K	tolerated(0.88)				YES	OR10J1,missense_variant,p.Asn9Lys,ENST00000423932,NM_012351.2;RP11-550P17.5,intron_variant,,ENST00000431862,;							MODERATE	27/963	N9K	O10J1_HUMAN			Transcript		benign(0.001)	.	ENSP00000399078		CCDS1185.1			1	
MDN1	0	LGGM	GRCh37	6	90453433	90453433	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	10	2	.	.	ENST00000369393.3:c.4179G>T	p.Gly1393=	p.G1393=	ENST00000369393		1393	ggG/ggT	0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		12			HGNC	p.G1393G		MDN1		SNV							ENST00000428876	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF07728,PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		G		A		4295/18413				M0QXR3_HUMAN			YES	MDN1,splice_region_variant,p.=,ENST00000369393,;MDN1,splice_region_variant,p.=,ENST00000428876,NM_014611.1;							LOW	4179/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
C19orf55	0	LGGM	GRCh37	19	36257770	36257770	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	7	2	.	.	ENST00000544099.1:c.871C>A	p.Arg291=	p.R291=	ENST00000544099		291	Cgg/Agg	0	1		UPI00015DF9A2	0		ENST00000396908		ENSG00000167595	25204		9			HGNC	p.R291R		C19orf55		SNV							ENST00000544099	protein_coding			hmmpanther:PTHR22045		R		A		944/2143								C19orf55,synonymous_variant,p.=,ENST00000544099,;C19orf55,synonymous_variant,p.=,ENST00000396908,NM_001039887.2;C19orf55,downstream_gene_variant,,ENST00000536950,;C19orf55,downstream_gene_variant,,ENST00000301165,;C19orf55,downstream_gene_variant,,ENST00000537459,;C19orf55,downstream_gene_variant,,ENST00000421853,;C19orf55,downstream_gene_variant,,ENST00000545674,;C19orf55,downstream_gene_variant,,ENST00000444637,;C19orf55,downstream_gene_variant,,ENST00000542134,;AC002398.13,downstream_gene_variant,,ENST00000589397,;C19orf55,non_coding_transcript_exon_variant,,ENST00000542591,;C19orf55,intron_variant,,ENST00000544876,;C19orf55,upstream_gene_variant,,ENST00000536037,;C19orf55,synonymous_variant,p.=,ENST00000535581,;C19orf55,downstream_gene_variant,,ENST00000600988,;C19orf55,upstream_gene_variant,,ENST00000544158,;C19orf55,downstream_gene_variant,,ENST00000601095,;C19orf55,downstream_gene_variant,,ENST00000539771,;							LOW	871/1440					Transcript			.	ENSP00000380116					1	
TRIM3	0	LGGM	GRCh37	11	6477958	6477958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	17	3	.	.	ENST00000525074.1:c.998G>T	p.Arg333Leu	p.R333L	ENST00000525074	NM_001248006.1	333	cGc/cTc	0	1		UPI000013C8BA	0	getma.org/pdb.php?prot=TRIM3_HUMAN&from=319&to=415&var=R333L	ENST00000345851		ENSG00000110171	10064		20	1.92		HGNC	p.R333L		TRIM3		SNV							ENST00000530899	protein_coding	getma.org/?cm=var&var=hg19,11,6477958,C,A&fts=all		PROSITE_profiles:PS50194,hmmpanther:PTHR24103:SF1,hmmpanther:PTHR24103,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296		R/L		A	medium	1229/2879		getma.org/?cm=msa&ty=f&p=TRIM3_HUMAN&rb=319&re=415&var=R333L	deleterious(0.01)	E9PMW5_HUMAN,E9PMK8_HUMAN,D3DQT3_HUMAN,B3KV53_HUMAN				TRIM3,missense_variant,p.Arg333Leu,ENST00000525074,NM_001248006.1;TRIM3,missense_variant,p.Arg333Leu,ENST00000359518,NM_006458.3;TRIM3,missense_variant,p.Arg333Leu,ENST00000345851,NM_033278.3;TRIM3,missense_variant,p.Arg255Leu,ENST00000537602,;TRIM3,missense_variant,p.Arg214Leu,ENST00000536344,NM_001248007.1;TRIM3,downstream_gene_variant,,ENST00000528227,;TRIM3,downstream_gene_variant,,ENST00000529529,;TRIM3,non_coding_transcript_exon_variant,,ENST00000529058,;TRIM3,upstream_gene_variant,,ENST00000526845,;TRIM3,downstream_gene_variant,,ENST00000528932,;TRIM3,upstream_gene_variant,,ENST00000527237,;TRIM3,upstream_gene_variant,,ENST00000532542,;TRIM3,upstream_gene_variant,,ENST00000533309,;							MODERATE	998/2235	R333L	TRIM3_HUMAN			Transcript		probably_damaging(0.913)	.	ENSP00000340797		CCDS7764.1			1	
ZNF396	0	LGGM	GRCh37	18	32953477	32953477	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	40	3	.	.	ENST00000306346.1:c.505C>T	p.Pro169Ser	p.P169S	ENST00000306346	NM_145756.2	169	Ccc/Tcc	0	1		UPI0000061E55	0	NA	ENST00000589332		ENSG00000186496	18824		43	1.24		HGNC	p.P169S		ZNF396		SNV							ENST00000586687	protein_coding	getma.org/?cm=var&var=hg19,18,32953477,G,A&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF26		P/S		A	low	637/1884		getma.org/?cm=msa&ty=f&p=ZN396_HUMAN&rb=142&re=264&var=P169S	tolerated(0.26)	K7ERR8_HUMAN,K7EK38_HUMAN				ZNF396,missense_variant,p.Pro169Ser,ENST00000306346,NM_145756.2;ZNF396,missense_variant,p.Pro169Ser,ENST00000589332,;ZNF396,missense_variant,p.Pro169Ser,ENST00000586687,;ZNF396,downstream_gene_variant,,ENST00000585522,;ZNF396,downstream_gene_variant,,ENST00000587422,;ZNF396,non_coding_transcript_exon_variant,,ENST00000586585,;							MODERATE	505/1008	P169S	ZN396_HUMAN			Transcript		benign(0.15)	.	ENSP00000466500					1	
AHNAK2	0	LGGM	GRCh37	14	105405284	105405284	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	31	3	.	.	ENST00000333244.5:c.16504C>T	p.Arg5502Trp	p.R5502W	ENST00000333244	NM_138420.2	5502	Cgg/Tgg	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125	9.36E-05	34	1.845		HGNC	p.R500W	rs377580543	AHNAK2		SNV	A:0			0.000111			ENST00000557457	protein_coding	getma.org/?cm=var&var=hg19,14,105405284,G,A&fts=all				R/W	A:0.0001	A	low	16624/18254	9.55E-05	getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=5401&re=5600&var=R5502W					YES	AHNAK2,missense_variant,p.Arg5502Trp,ENST00000333244,NM_138420.2;AHNAK2,missense_variant,p.Arg500Trp,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							MODERATE	16504/17388	R5502W	AHNK2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000353114	0.000108	CCDS45177.1			1	
CREBBP	0	LGGM	GRCh37	16	3779420	3779420	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	6	3	.	.	ENST00000262367.5:c.5628C>A	p.Asn1876Lys	p.N1876K	ENST00000262367	NM_004380.2	1876	aaC/aaA	0	1	1	UPI0000000620	0	NA	ENST00000262367		ENSG00000005339	2348		9	0.69		HGNC	p.N1838K		CREBBP		SNV			1				ENST00000382070	protein_coding	getma.org/?cm=var&var=hg19,16,3779420,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13808,hmmpanther:PTHR13808:SF5		N/K		T	neutral	6438/10803		getma.org/?cm=msa&ty=f&p=CBP_HUMAN&rb=1844&re=2015&var=N1876K		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			YES	CREBBP,missense_variant,p.Asn1876Lys,ENST00000262367,NM_004380.2;CREBBP,missense_variant,p.Asn1838Lys,ENST00000382070,NM_001079846.1;CREBBP,downstream_gene_variant,,ENST00000576720,;CREBBP,downstream_gene_variant,,ENST00000571763,;							MODERATE	5628/7329	N1876K	CBP_HUMAN			Transcript		unknown(0)	.	ENSP00000262367		CCDS10509.1			1	
DUS1L	0	LGGM	GRCh37	17	80019586	80019586	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	20	3	.	.	ENST00000354321.7:c.605C>T	p.Ala202Val	p.A202V	ENST00000354321		202	gCc/gTc	0	1		UPI00002004B5	0	getma.org/pdb.php?prot=DUS1L_HUMAN&from=20&to=325&var=A202V	ENST00000306796		ENSG00000169718	30086		23	0.995		HGNC	p.A202V		DUS1L		SNV							ENST00000306796	protein_coding	getma.org/?cm=var&var=hg19,17,80019586,G,A&fts=all		hmmpanther:PTHR11082:SF5,hmmpanther:PTHR11082,Pfam_domain:PF01207,Gene3D:3.20.20.70,Superfamily_domains:SSF51395		A/V		A	low	642/2068		getma.org/?cm=msa&ty=f&p=DUS1L_HUMAN&rb=20&re=325&var=A202V	tolerated(0.1)	J3QLE4_HUMAN				DUS1L,missense_variant,p.Ala202Val,ENST00000354321,;DUS1L,missense_variant,p.Ala202Val,ENST00000306796,NM_022156.4;DUS1L,missense_variant,p.Ala70Val,ENST00000538833,;DUS1L,missense_variant,p.Ala202Val,ENST00000582529,;DUS1L,missense_variant,p.Ala202Val,ENST00000578907,;DUS1L,missense_variant,p.Ala185Val,ENST00000578176,;GPS1,downstream_gene_variant,,ENST00000392358,NM_212492.1;GPS1,downstream_gene_variant,,ENST00000320548,;GPS1,downstream_gene_variant,,ENST00000578552,NM_004127.4;GPS1,downstream_gene_variant,,ENST00000306823,;GPS1,downstream_gene_variant,,ENST00000355130,;DUS1L,upstream_gene_variant,,ENST00000542088,;DUS1L,downstream_gene_variant,,ENST00000577907,;GPS1,downstream_gene_variant,,ENST00000578168,;DUS1L,upstream_gene_variant,,ENST00000577574,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578846,;DUS1L,non_coding_transcript_exon_variant,,ENST00000578264,;GPS1,downstream_gene_variant,,ENST00000392357,;GPS1,downstream_gene_variant,,ENST00000584460,;GPS1,downstream_gene_variant,,ENST00000578279,;GPS1,downstream_gene_variant,,ENST00000583486,;DUS1L,upstream_gene_variant,,ENST00000580731,;DUS1L,upstream_gene_variant,,ENST00000582407,;DUS1L,upstream_gene_variant,,ENST00000578428,;DUS1L,upstream_gene_variant,,ENST00000584871,;DUS1L,upstream_gene_variant,,ENST00000579854,;							MODERATE	605/1422	A202V	DUS1L_HUMAN			Transcript		benign(0.01)	.	ENSP00000303515		CCDS32775.1			1	
DR1	0	LGGM	GRCh37	1	93826058	93826058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	3	.	.	ENST00000370272.4:c.393G>T	p.Gln131His	p.Q131H	ENST00000370272	NM_001938.2	131	caG/caT	0	1		UPI0000136997	0	getma.org/pdb.php?prot=NC2B_HUMAN&from=76&to=176&var=Q131H	ENST00000370267		ENSG00000117505	3017		21	1.585		HGNC	p.Q131H		DR1		SNV							ENST00000370267	protein_coding	getma.org/?cm=var&var=hg19,1,93826058,G,T&fts=all		Gene3D:1.10.20.10,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11064,Low_complexity_(Seg):seg,Superfamily_domains:SSF47113		Q/H		T	low	980/1647		getma.org/?cm=msa&ty=f&p=NC2B_HUMAN&rb=76&re=176&var=Q131H	tolerated(0.14)	Q658N3_HUMAN				DR1,missense_variant,p.Gln131His,ENST00000370272,NM_001938.2;DR1,missense_variant,p.Gln131His,ENST00000370267,;DR1,non_coding_transcript_exon_variant,,ENST00000481583,;							MODERATE	393/531	Q131H	NC2B_HUMAN			Transcript		unknown(0)	.	ENSP00000359290		CCDS744.1			1	
SPATS1	0	LGGM	GRCh37	6	44336156	44336156	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	47	3	.	.	ENST00000288390.2:c.615C>A	p.Gly205=	p.G205=	ENST00000288390		205	ggC/ggA	0	1	1	UPI0000072310	0		ENST00000288390		ENSG00000249481	22957		50			HGNC	p.G205G	rs770739945	SPATS1		SNV							ENST00000323108	protein_coding			Pfam_domain:PF15160		G		A		962/1354	1.50E-05			H0Y9A9_HUMAN			YES	SPATS1,synonymous_variant,p.=,ENST00000288390,;SPATS1,synonymous_variant,p.=,ENST00000323108,NM_145026.3;RP11-444E17.6,3_prime_UTR_variant,,ENST00000505802,;SPATS1,3_prime_UTR_variant,,ENST00000506468,;							LOW	615/903		SPAS1_HUMAN			Transcript			.	ENSP00000424400	8.24E-06	CCDS4911.1			1	
CCDC106	0	LGGM	GRCh37	19	56163933	56163933	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	27	3	.	.	ENST00000586790.1:c.664C>A	p.Leu222Met	p.L222M	ENST00000586790		222	Ctg/Atg	0	1		UPI0000072074	0	NA	ENST00000308964		ENSG00000173581	30181		30	0.895		HGNC	p.L222M		CCDC106		SNV							ENST00000588740	protein_coding	getma.org/?cm=var&var=hg19,19,56163933,C,A&fts=all		hmmpanther:PTHR16477,hmmpanther:PTHR16477:SF1		L/M		A	low	952/1546		getma.org/?cm=msa&ty=f&p=CC106_HUMAN&rb=68&re=278&var=L222M	deleterious(0.03)	K7ES29_HUMAN,K7ER22_HUMAN,K7EMP7_HUMAN				CCDC106,missense_variant,p.Leu222Met,ENST00000586790,;CCDC106,missense_variant,p.Leu222Met,ENST00000591578,;CCDC106,missense_variant,p.Leu222Met,ENST00000308964,NM_013301.2;CCDC106,missense_variant,p.Leu222Met,ENST00000588740,;CCDC106,missense_variant,p.Leu187Met,ENST00000591241,;U2AF2,upstream_gene_variant,,ENST00000450554,NM_007279.2,NM_001012478.1;U2AF2,upstream_gene_variant,,ENST00000308924,;CCDC106,downstream_gene_variant,,ENST00000592996,;CCDC106,downstream_gene_variant,,ENST00000587213,;CCDC106,downstream_gene_variant,,ENST00000593069,;U2AF2,upstream_gene_variant,,ENST00000587196,;CCDC106,downstream_gene_variant,,ENST00000586864,;U2AF2,upstream_gene_variant,,ENST00000588850,;							MODERATE	664/843	L222M	CC106_HUMAN			Transcript		possibly_damaging(0.855)	.	ENSP00000309681		CCDS33118.1			1	
TMCC2	0	LGGM	GRCh37	1	205238518	205238518	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	9	4	.	.	ENST00000358024.3:c.1188C>T	p.Ser396=	p.S396=	ENST00000358024	NM_014858.3	396	agC/agT	0	1	1	UPI00002056FC	0		ENST00000358024		ENSG00000133069	24239		13			HGNC	p.S318S	rs558212864,COSM1560318,COSM1560319	TMCC2		SNV				0.000211		0,1,1	ENST00000545499	protein_coding			Pfam_domain:PF10267,hmmpanther:PTHR17613,hmmpanther:PTHR17613:SF9,Low_complexity_(Seg):seg		S		T		1577/3738							YES	TMCC2,synonymous_variant,p.=,ENST00000358024,NM_014858.3;TMCC2,synonymous_variant,p.=,ENST00000329800,;TMCC2,synonymous_variant,p.=,ENST00000330675,;TMCC2,synonymous_variant,p.=,ENST00000545499,NM_001242925.1;TMCC2,synonymous_variant,p.=,ENST00000367159,;TMCC2,non_coding_transcript_exon_variant,,ENST00000495538,;TMCC2,non_coding_transcript_exon_variant,,ENST00000481950,;TMCC2,intron_variant,,ENST00000468846,;					0,1,1		LOW	1188/2130		TMCC2_HUMAN			Transcript			.	ENSP00000350718	1.65E-05	CCDS30984.1			1	
TM9SF2	0	LGGM	GRCh37	13	100191711	100191711	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	90	4	.	.	ENST00000376387.4:c.728C>A	p.Thr243Asn	p.T243N	ENST00000376387	NM_004800.2	243	aCc/aAc	0	1	1	UPI000013684D	0	NA	ENST00000376387		ENSG00000125304	11865		94	0.94		HGNC	p.T243N		TM9SF2		SNV							ENST00000376387	protein_coding	getma.org/?cm=var&var=hg19,13,100191711,C,A&fts=all		hmmpanther:PTHR10766:SF36,hmmpanther:PTHR10766,Pfam_domain:PF02990		T/N		A	low	918/3430		getma.org/?cm=msa&ty=f&p=TM9S2_HUMAN&rb=74&re=621&var=T243N	tolerated(0.31)				YES	TM9SF2,missense_variant,p.Thr243Asn,ENST00000376387,NM_004800.2;RNY3P6,upstream_gene_variant,,ENST00000390895,;TM9SF2,downstream_gene_variant,,ENST00000463709,;TM9SF2,upstream_gene_variant,,ENST00000466555,;							MODERATE	728/1992	T243N	TM9S2_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000365567		CCDS9493.1			1	
CPNE1	0	LGGM	GRCh37	20	34214217	34214217	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	43	4	.	.	ENST00000317677.5:c.1575G>A	p.Pro525=	p.P525=	ENST00000317677	NM_003915.5	525	ccG/ccA	0	1		UPI0000049386	0		ENST00000352393		ENSG00000214078	2314	0.000432	47			HGNC	p.P464P	rs573636405	CPNE1	0.00109	SNV							ENST00000397442	protein_coding		T:0	hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF2		P		T		1883/2147	0.00012			Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN	T:0	T:0		CPNE1,missense_variant,p.Ala161Thr,ENST00000415920,;CPNE1,synonymous_variant,p.=,ENST00000317619,;CPNE1,synonymous_variant,p.=,ENST00000352393,;CPNE1,synonymous_variant,p.=,ENST00000397446,;CPNE1,synonymous_variant,p.=,ENST00000397445,NM_152927.2,NM_152928.2;CPNE1,synonymous_variant,p.=,ENST00000397443,NM_001198863.1,NM_152926.2,NM_152925.2;CPNE1,synonymous_variant,p.=,ENST00000317677,NM_003915.5;CPNE1,synonymous_variant,p.=,ENST00000437340,;CPNE1,synonymous_variant,p.=,ENST00000397442,;CPNE1,downstream_gene_variant,,ENST00000430570,;CPNE1,downstream_gene_variant,,ENST00000414664,;CPNE1,downstream_gene_variant,,ENST00000412056,;CPNE1,non_coding_transcript_exon_variant,,ENST00000462352,;CPNE1,non_coding_transcript_exon_variant,,ENST00000498814,;CPNE1,downstream_gene_variant,,ENST00000498056,;CPNE1,3_prime_UTR_variant,,ENST00000401607,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483495,;CPNE1,non_coding_transcript_exon_variant,,ENST00000473373,;CPNE1,downstream_gene_variant,,ENST00000486021,;		T:0.0006					LOW	1560/1614		CPNE1_HUMAN		T:0.001	Transcript			common_variant	ENSP00000336945	0.000255	CCDS13260.1		T:0.002	1	
OGFOD1	0	LGGM	GRCh37	16	56510106	56510106	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	10	4	.	.	ENST00000566157.1:c.1618T>A	p.Tyr540Asn	p.Y540N	ENST00000566157	NM_018233.3	540	Tat/Aat	0	1	1	UPI0000049DA2	0	NA	ENST00000566157		ENSG00000087263	25585		14	2.36		HGNC	p.Y540N		OGFOD1		SNV							ENST00000566157	protein_coding	getma.org/?cm=var&var=hg19,16,56510106,T,A&fts=all		hmmpanther:PTHR12117		Y/N		A	medium	1741/4647		getma.org/?cm=msa&ty=f&p=OGFD1_HUMAN&rb=496&re=542&var=Y540N	deleterious(0)	H3BUA6_HUMAN,H3BP48_HUMAN			YES	OGFOD1,missense_variant,p.Tyr540Asn,ENST00000566157,NM_018233.3;OGFOD1,missense_variant,p.Tyr497Asn,ENST00000568397,;BBS2,intron_variant,,ENST00000564459,;BBS2,intron_variant,,ENST00000564123,;OGFOD1,3_prime_UTR_variant,,ENST00000336111,;							MODERATE	1618/1629	Y540N	OGFD1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000457258		CCDS10761.2			1	
OGFOD1	0	LGGM	GRCh37	16	56510104	56510104	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	10	4	.	.	ENST00000566157.1:c.1616T>A	p.Ile539Asn	p.I539N	ENST00000566157	NM_018233.3	539	aTc/aAc	0	1	1	UPI0000049DA2	0	NA	ENST00000566157		ENSG00000087263	25585		14	0.345		HGNC	p.I539N		OGFOD1		SNV							ENST00000566157	protein_coding	getma.org/?cm=var&var=hg19,16,56510104,T,A&fts=all		hmmpanther:PTHR12117		I/N		A	neutral	1739/4647		getma.org/?cm=msa&ty=f&p=OGFD1_HUMAN&rb=496&re=542&var=I539N	deleterious(0.02)	H3BUA6_HUMAN,H3BP48_HUMAN			YES	OGFOD1,missense_variant,p.Ile539Asn,ENST00000566157,NM_018233.3;OGFOD1,missense_variant,p.Ile496Asn,ENST00000568397,;BBS2,intron_variant,,ENST00000564459,;BBS2,intron_variant,,ENST00000564123,;OGFOD1,3_prime_UTR_variant,,ENST00000336111,;							MODERATE	1616/1629	I539N	OGFD1_HUMAN			Transcript		benign(0.009)	.	ENSP00000457258		CCDS10761.2			1	
WFIKKN2	0	LGGM	GRCh37	17	48917181	48917181	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	7	4	.	.	ENST00000311378.4:c.532C>A	p.His178Asn	p.H178N	ENST00000311378	NM_175575.5	178	Cac/Aac	0	1	1	UPI000004139B	0	NA	ENST00000311378		ENSG00000173714	30916		11	2.125		HGNC	p.H85N		WFIKKN2		SNV							ENST00000426127	protein_coding	getma.org/?cm=var&var=hg19,17,48917181,C,A&fts=all		hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF183		H/N		A	medium	1060/3588		getma.org/?cm=msa&ty=f&p=WFKN2_HUMAN&rb=176&re=209&var=H178N	tolerated(0.31)	C9J6G4_HUMAN			YES	WFIKKN2,missense_variant,p.His178Asn,ENST00000311378,NM_175575.5;WFIKKN2,missense_variant,p.His85Asn,ENST00000426127,;RP11-506D12.5,downstream_gene_variant,,ENST00000572491,;							MODERATE	532/1731	H178N	WFKN2_HUMAN			Transcript		benign(0.105)	.	ENSP00000311184		CCDS11575.1			1	
HAUS8	0	LGGM	GRCh37	19	17169398	17169398	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	13	4	.	.	ENST00000253669.5:c.606T>A	p.Ser202=	p.S202=	ENST00000253669		202	tcT/tcA	0	1	1	UPI000015FED6	0		ENST00000253669		ENSG00000131351	30532		17			HGNC	p.S202S		HAUS8		SNV							ENST00000253669	protein_coding			hmmpanther:PTHR31807,Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil		S		T		797/1568							YES	HAUS8,synonymous_variant,p.=,ENST00000593360,;HAUS8,synonymous_variant,p.=,ENST00000253669,;HAUS8,synonymous_variant,p.=,ENST00000448593,NM_033417.1,NM_001011699.1;CTD-2528A14.3,downstream_gene_variant,,ENST00000598893,;HAUS8,3_prime_UTR_variant,,ENST00000598517,;HAUS8,3_prime_UTR_variant,,ENST00000601564,;HAUS8,non_coding_transcript_exon_variant,,ENST00000595958,;HAUS8,upstream_gene_variant,,ENST00000597479,;							LOW	606/1233		HAUS8_HUMAN			Transcript			.	ENSP00000253669		CCDS32948.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266124	41266124	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	22	26	.	.	ENST00000349496.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000349496	NM_001904.3	41	Acc/Gcc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41A	ENST00000349496	pathogenic	ENSG00000168036	2514		48	2.445		HGNC	p.T41A	rs121913412,COSM5664	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266124,A,G&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/A		G	medium	401/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41A	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ala,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ala,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ala,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ala,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ala,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	121/2346	T41A	CTNB1_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000344456		CCDS2694.1			1	
DSCAML1	0	LGGM	GRCh37	11	117387188	117387188	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	3	5	.	.	ENST00000321322.6:c.1957G>A	p.Val653Ile	p.V653I	ENST00000321322	NM_020693.2	653	Gtc/Atc	0	1	1	UPI00000726E2	0	getma.org/pdb.php?prot=DSCL1_HUMAN&from=505&to=593&var=V593I	ENST00000321322		ENSG00000177103	14656		8	2.34		HGNC	p.V653I	rs772587336	DSCAML1		SNV							ENST00000321322	protein_coding	getma.org/?cm=var&var=hg19,11,117387188,C,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		V/I		T	medium	1959/6899	1.53E-05	getma.org/?cm=msa&ty=f&p=DSCL1_HUMAN&rb=505&re=593&var=V593I	deleterious(0.01)				YES	DSCAML1,missense_variant,p.Val653Ile,ENST00000321322,NM_020693.2;DSCAML1,missense_variant,p.Val383Ile,ENST00000527706,;							MODERATE	1957/6342	V593I	DSCL1_HUMAN			Transcript		possibly_damaging(0.784)	.	ENSP00000315465	8.24E-06	CCDS8384.1			1	
PCDH11X	0	LGGM	GRCh37	X	91090855	91090855	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	0	5	.	.	ENST00000373094.1:c.352G>A	p.Glu118Lys	p.E118K	ENST00000373094	NM_032968.3	118	Gaa/Aaa	0	1	1	UPI0000070BD8	0	getma.org/pdb.php?prot=PC11X_HUMAN&from=26&to=139&var=E118K	ENST00000373094		ENSG00000102290	8656		5	0.965		HGNC	p.E118K		PCDH11X		SNV							ENST00000373088	protein_coding	getma.org/?cm=var&var=hg19,X,91090855,G,A&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF15,PROSITE_profiles:PS50268		E/K		A	low	1197/9176		getma.org/?cm=msa&ty=f&p=PC11X_HUMAN&rb=26&re=139&var=E118K	deleterious(0.04)	Q70LT5_HUMAN,Q70LT4_HUMAN			YES	PCDH11X,missense_variant,p.Glu118Lys,ENST00000373094,NM_032968.3;PCDH11X,missense_variant,p.Glu118Lys,ENST00000373097,NM_032969.3;PCDH11X,missense_variant,p.Glu118Lys,ENST00000395337,NM_032967.2;PCDH11X,missense_variant,p.Glu118Lys,ENST00000361724,NM_014522.1;PCDH11X,missense_variant,p.Glu118Lys,ENST00000373088,NM_001168362.1;PCDH11X,missense_variant,p.Glu118Lys,ENST00000406881,NM_001168360.1;PCDH11X,missense_variant,p.Glu118Lys,ENST00000504220,NM_001168361.1;PCDH11X,missense_variant,p.Glu118Lys,ENST00000361655,NM_001168363.1;PCDH11X,missense_variant,p.Glu118Lys,ENST00000298274,;							MODERATE	352/4044	E118K	PC11X_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000362186		CCDS14461.1			1	
ELOVL5	0	LGGM	GRCh37	6	53159238	53159238	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	7	5	.	.	ENST00000541407.1:c.58+1202G>C		*20*	ENST00000541407				0	1		UPI0000051C67	0		ENST00000304434		ENSG00000012660	21308		12			HGNC	p.G37A		ELOVL5		SNV			1				ENST00000370913	protein_coding							G		-/2827								ELOVL5,missense_variant,p.Gly37Ala,ENST00000370913,NM_001242831.1;ELOVL5,intron_variant,,ENST00000542638,;ELOVL5,intron_variant,,ENST00000370918,NM_001242830.1,NM_021814.4,NM_001242828.1;ELOVL5,intron_variant,,ENST00000304434,;ELOVL5,intron_variant,,ENST00000541407,;ELOVL5,intron_variant,,ENST00000486973,;ELOVL5,intron_variant,,ENST00000485336,;ELOVL5,intron_variant,,ENST00000465983,;							MODIFIER	-/900		ELOV5_HUMAN			Transcript			.	ENSP00000306640		CCDS4951.1			1	
DCAKD	0	LGGM	GRCh37	17	43112204	43112204	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	6	5	.	.	ENST00000452796.2:c.50T>C	p.Val17Ala	p.V17A	ENST00000452796	NM_001288655.1	17	gTg/gCg	0	1		UPI000007395B	0	getma.org/pdb.php?prot=DCAKD_HUMAN&from=2&to=183&var=V17A	ENST00000310604		ENSG00000172992	26238		11	2.405		HGNC	p.V17A		DCAKD		SNV							ENST00000593094	protein_coding	getma.org/?cm=var&var=hg19,17,43112204,A,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF01121,PROSITE_profiles:PS51219,hmmpanther:PTHR10695,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00152		V/A		G	medium	382/731		getma.org/?cm=msa&ty=f&p=DCAKD_HUMAN&rb=2&re=183&var=V17A	deleterious(0.01)					DCAKD,missense_variant,p.Val17Ala,ENST00000452796,NM_001288655.1;DCAKD,missense_variant,p.Val17Ala,ENST00000342350,NM_024819.4,NM_001288654.1;DCAKD,missense_variant,p.Val17Ala,ENST00000593094,;DCAKD,missense_variant,p.Val17Ala,ENST00000588499,NM_001128631.1;DCAKD,missense_variant,p.Val17Ala,ENST00000310604,;DCAKD,non_coding_transcript_exon_variant,,ENST00000588295,;DCAKD,non_coding_transcript_exon_variant,,ENST00000592902,;							MODERATE	50/399	V17A	DCAKD_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000308515					1	
SYT3	0	LGGM	GRCh37	19	51135756	51135756	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	6	5	.	.	ENST00000338916.4:c.461C>T	p.Ser154Phe	p.S154F	ENST00000338916	NM_032298.2	154	tCt/tTt	0	1	1	UPI0000047AEB	0	NA	ENST00000338916		ENSG00000213023	11511		11	0		HGNC	p.S154F		SYT3		SNV							ENST00000544769	protein_coding	getma.org/?cm=var&var=hg19,19,51135756,G,A&fts=all		hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176		S/F		A	neutral	1095/2915		getma.org/?cm=msa&ty=f&p=SYT3_HUMAN&rb=89&re=288&var=S154F	deleterious(0.05)	M0QY70_HUMAN			YES	SYT3,missense_variant,p.Ser154Phe,ENST00000338916,NM_032298.2;SYT3,missense_variant,p.Ser154Phe,ENST00000544769,;SYT3,missense_variant,p.Ser154Phe,ENST00000593901,NM_001160328.1;SYT3,missense_variant,p.Ser154Phe,ENST00000600079,NM_001160329.1;SYT3,downstream_gene_variant,,ENST00000598997,;							MODERATE	461/1773	S154F	SYT3_HUMAN			Transcript		benign(0.001)	.	ENSP00000340914		CCDS12798.1			1	
TRIM50	0	LGGM	GRCh37	7	72732912	72732912	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	20	6	.	.	ENST00000333149.2:c.635T>C	p.Leu212Pro	p.L212P	ENST00000333149	NM_001281450.1	212	cTg/cCg	0	1	1	UPI000015FD8F	0	NA	ENST00000333149		ENSG00000146755	19017		26	0.805		HGNC	p.L212P		TRIM50		SNV							ENST00000333149	protein_coding	getma.org/?cm=var&var=hg19,7,72732912,A,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF231		L/P		G	low	836/2047		getma.org/?cm=msa&ty=f&p=TRI50_HUMAN&rb=126&re=295&var=L212P	deleterious(0.01)				YES	TRIM50,missense_variant,p.Leu212Pro,ENST00000333149,NM_001281450.1,NM_178125.3;TRIM50,missense_variant,p.Leu212Pro,ENST00000453152,NM_001281451.1;TRIM50,downstream_gene_variant,,ENST00000493498,;TRIM50,upstream_gene_variant,,ENST00000488217,;RP11-483G21.3,downstream_gene_variant,,ENST00000417100,;							MODERATE	635/1464	L212P	TRI50_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000327994		CCDS34654.1			1	
PDIA2	0	LGGM	GRCh37	16	335184	335184	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	6	6	.	.	ENST00000219406.6:c.779C>A	p.Thr260Lys	p.T260K	ENST00000219406	NM_006849.2	260	aCg/aAg	0	1	1	UPI0000131481	0	getma.org/pdb.php?prot=PDIA2_HUMAN&from=179&to=366&var=T260K	ENST00000219406		ENSG00000185615	14180		12	2.22		HGNC	p.T260K		PDIA2		SNV							ENST00000219406	protein_coding	getma.org/?cm=var&var=hg19,16,335184,C,A&fts=all		hmmpanther:PTHR18929,hmmpanther:PTHR18929:SF75,Gene3D:3.40.30.10,TIGRFAM_domain:TIGR01130,Pfam_domain:PF13848,Superfamily_domains:SSF52833,Superfamily_domains:SSF52833		T/K		A	medium	797/1698		getma.org/?cm=msa&ty=f&p=PDIA2_HUMAN&rb=179&re=366&var=T260K	deleterious(0.01)	B3KWF3_HUMAN			YES	PDIA2,missense_variant,p.Thr260Lys,ENST00000219406,NM_006849.2;PDIA2,missense_variant,p.Thr257Lys,ENST00000404312,;AXIN1,downstream_gene_variant,,ENST00000262320,NM_003502.3;AXIN1,downstream_gene_variant,,ENST00000354866,NM_181050.2;ARHGDIG,downstream_gene_variant,,ENST00000219409,NM_001176.3;ARHGDIG,downstream_gene_variant,,ENST00000447871,;PDIA2,downstream_gene_variant,,ENST00000456379,;ARHGDIG,downstream_gene_variant,,ENST00000414650,;PDIA2,upstream_gene_variant,,ENST00000435833,;ARHGDIG,downstream_gene_variant,,ENST00000435035,;ARHGDIG,downstream_gene_variant,,ENST00000412541,;AXIN1,downstream_gene_variant,,ENST00000457798,;PDIA2,non_coding_transcript_exon_variant,,ENST00000462950,;PDIA2,non_coding_transcript_exon_variant,,ENST00000482665,;PDIA2,non_coding_transcript_exon_variant,,ENST00000467212,;AXIN1,downstream_gene_variant,,ENST00000461023,;ARHGDIG,downstream_gene_variant,,ENST00000477621,;							MODERATE	779/1578	T260K	PDIA2_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000219406		CCDS42089.1			1	
EGFR	0	LGGM	GRCh37	7	55260501	55260501	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	9	6	.	.	ENST00000275493.2:c.2668A>G	p.Ile890Val	p.I890V	ENST00000275493	NM_005228.3	890	Atc/Gtc	0	1	1	UPI000003E750	0	getma.org/pdb.php?prot=EGFR_HUMAN&from=712&to=968&var=I890V	ENST00000275493		ENSG00000146648	3236		15	0.27		HGNC	p.I845V		EGFR		SNV			1				ENST00000455089	protein_coding	getma.org/?cm=var&var=hg19,7,55260501,A,G&fts=all		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		I/V		G	neutral	2845/9821		getma.org/?cm=msa&ty=f&p=EGFR_HUMAN&rb=712&re=968&var=I890V	tolerated(0.3)	Q75MF2_HUMAN,I3WA73_HUMAN,I3WA72_HUMAN,G9MC81_HUMAN,F1JTL6_HUMAN,E9PFD7_HUMAN,C9JYS6_HUMAN,A7VN06_HUMAN			YES	EGFR,missense_variant,p.Ile890Val,ENST00000275493,NM_005228.3;EGFR,missense_variant,p.Ile837Val,ENST00000454757,;EGFR,missense_variant,p.Ile845Val,ENST00000455089,;EGFR,intron_variant,,ENST00000442591,;EGFR-AS1,upstream_gene_variant,,ENST00000442411,;EGFR,upstream_gene_variant,,ENST00000485503,;							MODERATE	2668/3633	I890V	EGFR_HUMAN			Transcript		benign(0.008)	.	ENSP00000275493		CCDS5514.1			1	
ITPRIP	0	LGGM	GRCh37	10	106075160	106075160	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	12	6	.	.	ENST00000278071.2:c.650C>A	p.Pro217His	p.P217H	ENST00000278071	NM_033397.3	217	cCc/cAc	0	1	1	UPI0000074521	0	NA	ENST00000278071		ENSG00000148841	29370		18	2.425		HGNC	p.P217H		ITPRIP		SNV							ENST00000358187	protein_coding	getma.org/?cm=var&var=hg19,10,106075160,G,T&fts=all		hmmpanther:PTHR10656:SF8,hmmpanther:PTHR10656		P/H		T	medium	1103/4362		getma.org/?cm=msa&ty=f&p=IPRI_HUMAN&rb=79&re=278&var=P217H	deleterious(0)				YES	ITPRIP,missense_variant,p.Pro217His,ENST00000278071,NM_033397.3;ITPRIP,missense_variant,p.Pro217His,ENST00000337478,NM_001272013.1;ITPRIP,missense_variant,p.Pro217His,ENST00000358187,NM_001272012.1;ITPRIP,downstream_gene_variant,,ENST00000458723,;RP11-127L20.5,downstream_gene_variant,,ENST00000472915,;							MODERATE	650/1644	P217H	IPRI_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000278071		CCDS7557.1			1	
C19orf57	0	LGGM	GRCh37	19	14000713	14000713	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	4	6	.	.	ENST00000346736.2:c.956G>A	p.Gly319Asp	p.G319D	ENST00000346736	NM_024323.3	319	gGt/gAt	0	1		UPI00015887A6	0	NA	ENST00000586783		ENSG00000132016	28153		10	0.975		HGNC	p.G319D	rs369138973	C19orf57		SNV	T:0.0002			0.000107			ENST00000586783	protein_coding	getma.org/?cm=var&var=hg19,19,14000713,C,T&fts=all		hmmpanther:PTHR14583		G/D	T:0	T	low	956/2454	0.000109	getma.org/?cm=msa&ty=f&p=CS057_HUMAN&rb=6&re=666&var=G319D	deleterious(0.03)					C19orf57,missense_variant,p.Gly319Asp,ENST00000454313,;C19orf57,missense_variant,p.Gly319Asp,ENST00000346736,NM_024323.3;C19orf57,missense_variant,p.Gly319Asp,ENST00000586783,;C19orf57,missense_variant,p.Gly15Asp,ENST00000589393,;C19orf57,intron_variant,,ENST00000591586,;C19orf57,upstream_gene_variant,,ENST00000588115,;C19orf57,upstream_gene_variant,,ENST00000591439,;C19orf57,downstream_gene_variant,,ENST00000585755,;							MODERATE	956/2007	G319D	CS057_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000465822	6.59E-05				1	
NPBWR2	0	LGGM	GRCh37	20	62737519	62737519	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	3	6	.	.	ENST00000369768.1:c.666G>T	p.Val222=	p.V222=	ENST00000369768	NM_005286.2	222	gtG/gtT	0	1	1	UPI000013CBB3	0		ENST00000369768		ENSG00000125522	4530		9			HGNC	p.V222V		NPBWR2		SNV							ENST00000369768	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229:SF18,hmmpanther:PTHR24229,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		A		1006/1352							YES	NPBWR2,synonymous_variant,p.=,ENST00000369768,NM_005286.2;							LOW	666/1002		NPBW2_HUMAN			Transcript			.	ENSP00000358783		CCDS13557.1			1	
GPS1	0	LGGM	GRCh37	17	80014723	80014723	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	6	6	.	.	ENST00000392358.2:c.1382A>G	p.Tyr461Cys	p.Y461C	ENST00000392358	NM_212492.1	461	tAc/tGc	0	1		UPI000013EB91	0	NA	ENST00000306823		ENSG00000169727	4549		12	2.42		HGNC	p.Y421C		GPS1		SNV							ENST00000578552	protein_coding	getma.org/?cm=var&var=hg19,17,80014723,A,G&fts=all		hmmpanther:PTHR14145:SF2,hmmpanther:PTHR14145,Pfam_domain:PF01399,Gene3D:1.10.10.10,SMART_domains:SM00088,Superfamily_domains:SSF46785		Y/C		G	medium	1297/1842		getma.org/?cm=msa&ty=f&p=CSN1_HUMAN&rb=324&re=428&var=Y425C	deleterious(0.01)	J3QS84_HUMAN,J3QLT0_HUMAN				GPS1,missense_variant,p.Tyr461Cys,ENST00000392358,NM_212492.1;GPS1,missense_variant,p.Tyr405Cys,ENST00000320548,;GPS1,missense_variant,p.Tyr421Cys,ENST00000578552,NM_004127.4;GPS1,missense_variant,p.Tyr425Cys,ENST00000306823,;GPS1,missense_variant,p.Tyr461Cys,ENST00000355130,;GPS1,intron_variant,,ENST00000578168,;DUS1L,downstream_gene_variant,,ENST00000354321,;DUS1L,downstream_gene_variant,,ENST00000306796,NM_022156.4;DUS1L,downstream_gene_variant,,ENST00000538833,;DUS1L,downstream_gene_variant,,ENST00000582529,;DUS1L,downstream_gene_variant,,ENST00000578907,;DUS1L,downstream_gene_variant,,ENST00000542088,;GPS1,downstream_gene_variant,,ENST00000585084,;DUS1L,downstream_gene_variant,,ENST00000578176,;GPS1,downstream_gene_variant,,ENST00000583641,;GPS1,downstream_gene_variant,,ENST00000583885,;GPS1,downstream_gene_variant,,ENST00000583961,;GPS1,downstream_gene_variant,,ENST00000581418,;GPS1,downstream_gene_variant,,ENST00000583009,;GPS1,downstream_gene_variant,,ENST00000580716,;GPS1,downstream_gene_variant,,ENST00000582327,;DUS1L,downstream_gene_variant,,ENST00000577574,;GPS1,downstream_gene_variant,,ENST00000581578,;GPS1,downstream_gene_variant,,ENST00000584229,;GPS1,3_prime_UTR_variant,,ENST00000584460,;GPS1,non_coding_transcript_exon_variant,,ENST00000392357,;GPS1,non_coding_transcript_exon_variant,,ENST00000578279,;GPS1,non_coding_transcript_exon_variant,,ENST00000583486,;DUS1L,downstream_gene_variant,,ENST00000578846,;DUS1L,downstream_gene_variant,,ENST00000578264,;GPS1,downstream_gene_variant,,ENST00000580141,;DUS1L,downstream_gene_variant,,ENST00000580731,;DUS1L,downstream_gene_variant,,ENST00000582407,;DUS1L,downstream_gene_variant,,ENST00000578428,;DUS1L,downstream_gene_variant,,ENST00000584871,;DUS1L,downstream_gene_variant,,ENST00000579854,;GPS1,downstream_gene_variant,,ENST00000580723,;GPS1,downstream_gene_variant,,ENST00000578642,;GPS1,downstream_gene_variant,,ENST00000578392,;GPS1,downstream_gene_variant,,ENST00000580627,;							MODERATE	1274/1476	Y425C	CSN1_HUMAN			Transcript		benign(0.286)	.	ENSP00000302873		CCDS32774.1			1	
TP53BP1	0	LGGM	GRCh37	15	43739678	43739678	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	12	6	.	.	ENST00000382044.4:c.2722C>T	p.Pro908Ser	p.P908S	ENST00000382044	NM_001141980.1	908	Cca/Tca	0	1		UPI0000131031	0	NA	ENST00000263801		ENSG00000067369	11999		18	1.935		HGNC	p.P908S		TP53BP1		SNV							ENST00000450115	protein_coding	getma.org/?cm=var&var=hg19,15,43739678,G,A&fts=all		hmmpanther:PTHR15321		P/S		A	medium	2960/6346		getma.org/?cm=msa&ty=f&p=TP53B_HUMAN&rb=801&re=1000&var=P903S	tolerated(0.24)	B3KVT9_HUMAN				TP53BP1,missense_variant,p.Pro903Ser,ENST00000263801,NM_005657.2;TP53BP1,missense_variant,p.Pro908Ser,ENST00000382044,NM_001141980.1,NM_001141979.1;TP53BP1,missense_variant,p.Pro908Ser,ENST00000450115,;TP53BP1,missense_variant,p.Pro908Ser,ENST00000382039,;TP53BP1,intron_variant,,ENST00000413546,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000605155,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000414758,;TP53BP1,missense_variant,p.Pro150Ser,ENST00000411772,;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,;TP53BP1,intron_variant,,ENST00000480860,;							MODERATE	2707/5919	P903S	TP53B_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000263801		CCDS10096.1			1	
SMDT1	0	LGGM	GRCh37	22	42475849	42475849	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	9	6	.	.	ENST00000331479.3:c.77G>C	p.Arg26Thr	p.R26T	ENST00000331479	NM_033318.4	26	aGg/aCg	0	1	1	UPI000006EA19	0	NA	ENST00000331479		ENSG00000183172	25055		15	2.075		HGNC	p.R26T		SMDT1		SNV							ENST00000331479	protein_coding	getma.org/?cm=var&var=hg19,22,42475849,G,C&fts=all				R/T		C	medium	151/1567		getma.org/?cm=msa&ty=f&p=CV032_HUMAN&rb=1&re=57&var=R26T	deleterious(0.02)				YES	SMDT1,missense_variant,p.Arg26Thr,ENST00000331479,NM_033318.4;FAM109B,downstream_gene_variant,,ENST00000321753,NM_001002034.2;FAM109B,downstream_gene_variant,,ENST00000419475,;snoU13,upstream_gene_variant,,ENST00000458891,;SMDT1,missense_variant,p.Arg26Thr,ENST00000422252,;SMDT1,non_coding_transcript_exon_variant,,ENST00000484235,;							MODERATE	77/324	R26T	SMDT1_HUMAN			Transcript		benign(0.102)	.	ENSP00000327467		CCDS14031.1			1	
KAT7	0	LGGM	GRCh37	17	47886572	47886572	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	9	7	.	.	ENST00000259021.4:c.753+2T>A		p.X251_splice	ENST00000259021	NM_007067.4			0	1	1	UPI000006D3D5	0		ENST00000259021		ENSG00000136504	17016		16			HGNC	-		KAT7		SNV							ENST00000259021	protein_coding							A		-/3710				G3V125_HUMAN,B4DJ40_HUMAN,B4DGH8_HUMAN			YES	KAT7,splice_donor_variant,,ENST00000503935,;KAT7,splice_donor_variant,,ENST00000259021,NM_007067.4;KAT7,splice_donor_variant,,ENST00000454930,NM_001199156.1;KAT7,intron_variant,,ENST00000435742,;KAT7,intron_variant,,ENST00000424009,NM_001199155.1;KAT7,intron_variant,,ENST00000509773,NM_001199157.1;KAT7,intron_variant,,ENST00000510819,NM_001199158.1;KAT7,intron_variant,,ENST00000509124,;							HIGH	753/1836		KAT7_HUMAN			Transcript			.	ENSP00000259021		CCDS11554.1			1	
TPO	0	LGGM	GRCh37	2	1544411	1544411	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	7	.	.	ENST00000345913.4:c.2664C>T	p.Gly888=	p.G888=	ENST00000345913	NM_000547.5	888	ggC/ggT	0	1		UPI000013D480	0		ENST00000329066		ENSG00000115705	12015		25			HGNC	p.G888G	rs753589249,COSM165095	TPO	6.06E-05	SNV			1			0,1	ENST00000345913	protein_coding					G		T		2747/3138	3.04E-05			Q53QT2_HUMAN,C9J511_HUMAN				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,;					0,1		LOW	2664/2802		PERT_HUMAN			Transcript			.	ENSP00000329869	2.47E-05	CCDS1643.1			1	
EDIL3	0	LGGM	GRCh37	5	83360572	83360572	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	13	7	.	.	ENST00000296591.5:c.899T>C	p.Val300Ala	p.V300A	ENST00000296591	NM_005711.4	300	gTt/gCt	0	1	1	UPI000004D126	0	getma.org/pdb.php?prot=EDIL3_HUMAN&from=173&to=311&var=V300A	ENST00000296591		ENSG00000164176	3173		20	-0.085		HGNC	p.V300A		EDIL3		SNV							ENST00000296591	protein_coding	getma.org/?cm=var&var=hg19,5,83360572,A,G&fts=all		Superfamily_domains:SSF49785,SMART_domains:SM00231,Pfam_domain:PF00754,Gene3D:2.60.120.260,PROSITE_patterns:PS01286,hmmpanther:PTHR10127:SF29,hmmpanther:PTHR10127,PROSITE_profiles:PS50022		V/A		G	neutral	1318/4727		getma.org/?cm=msa&ty=f&p=EDIL3_HUMAN&rb=173&re=311&var=V300A	tolerated(0.37)				YES	EDIL3,missense_variant,p.Val300Ala,ENST00000296591,NM_005711.4;EDIL3,missense_variant,p.Val290Ala,ENST00000380138,NM_001278642.1;EDIL3,non_coding_transcript_exon_variant,,ENST00000510271,;							MODERATE	899/1443	V300A	EDIL3_HUMAN			Transcript		possibly_damaging(0.525)	.	ENSP00000296591		CCDS4062.1			1	
ABCC5	0	LGGM	GRCh37	3	183700756	183700756	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	12	7	.	.	ENST00000334444.6:c.631A>G	p.Thr211Ala	p.T211A	ENST00000334444	NM_005688.2	211	Aca/Gca	0	1	1	UPI000004A33C	0	NA	ENST00000334444		ENSG00000114770	56		19	1.15		HGNC	p.T211A		ABCC5		SNV							ENST00000437205	protein_coding	getma.org/?cm=var&var=hg19,3,183700756,T,C&fts=all		PROSITE_profiles:PS50929,hmmpanther:PTHR24223:SF196,hmmpanther:PTHR24223,Gene3D:2hydA01,Pfam_domain:PF00664,Superfamily_domains:SSF90123		T/A		C	low	872/5921		getma.org/?cm=msa&ty=f&p=MRP5_HUMAN&rb=179&re=447&var=T211A	tolerated(0.76)	C9JZL5_HUMAN			YES	ABCC5,missense_variant,p.Thr211Ala,ENST00000334444,NM_005688.2;ABCC5,missense_variant,p.Thr211Ala,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.Thr211Ala,ENST00000437205,;ABCC5,downstream_gene_variant,,ENST00000443376,;ABCC5,downstream_gene_variant,,ENST00000438979,;							MODERATE	631/4314	T211A	MRP5_HUMAN			Transcript		benign(0.002)	.	ENSP00000333926		CCDS43176.1			1	
ATP4A	0	LGGM	GRCh37	19	36047877	36047877	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	16	7	.	.	ENST00000262623.3:c.1807A>G	p.Ile603Val	p.I603V	ENST00000262623	NM_000704.2	603	Att/Gtt	0	1	1	UPI000016A49B	0	getma.org/pdb.php?prot=ATP4A_HUMAN&from=381&to=740&var=I603V	ENST00000262623		ENSG00000105675	819		23	1.89		HGNC	p.I603V		ATP4A		SNV							ENST00000262623	protein_coding	getma.org/?cm=var&var=hg19,19,36047877,T,C&fts=all		Prints_domain:PR00119,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01106,Gene3D:1.20.1110.10,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF251		I/V		C	low	1836/3709		getma.org/?cm=msa&ty=f&p=ATP4A_HUMAN&rb=381&re=740&var=I603V	deleterious(0.02)				YES	ATP4A,missense_variant,p.Ile603Val,ENST00000262623,NM_000704.2;ATP4A,intron_variant,,ENST00000592131,;ATP4A,intron_variant,,ENST00000592767,;ATP4A,downstream_gene_variant,,ENST00000590916,;							MODERATE	1807/3108	I603V	ATP4A_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000262623		CCDS12467.1			1	
CUL7	0	LGGM	GRCh37	6	43007965	43007965	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	16	7	.	.	ENST00000535468.1:c.4475T>C	p.Leu1492Pro	p.L1492P	ENST00000535468	NM_014780.4	1492	cTg/cCg	0	1		UPI000013D603	0	getma.org/pdb.php?prot=CUL7_HUMAN&from=976&to=1544&var=L1408P	ENST00000265348		ENSG00000044090	21024		23	1.61		HGNC	p.L1492P		CUL7		SNV			1				ENST00000535468	protein_coding	getma.org/?cm=var&var=hg19,6,43007965,A,G&fts=all		PROSITE_profiles:PS50069,hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3,Gene3D:1ldjA05,Pfam_domain:PF00888,Superfamily_domains:SSF75632		L/P		G	low	4309/5254		getma.org/?cm=msa&ty=f&p=CUL7_HUMAN&rb=976&re=1544&var=L1408P	tolerated(0.21)					CUL7,missense_variant,p.Leu1492Pro,ENST00000535468,NM_014780.4,NM_001168370.1;CUL7,missense_variant,p.Leu1408Pro,ENST00000265348,;RN7SL403P,upstream_gene_variant,,ENST00000481783,;KLC4,upstream_gene_variant,,ENST00000467906,;							MODERATE	4223/5097	L1408P	CUL7_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000265348		CCDS4881.1			1	
R3HCC1L	0	LGGM	GRCh37	10	99969155	99969155	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	17	7	.	.	ENST00000298999.3:c.1284T>C	p.Ala428=	p.A428=	ENST00000298999	NM_014472.4	428	gcT/gcC	0	1	1	UPI00001F94F0	0		ENST00000298999		ENSG00000166024	23512		24			HGNC	p.A428A		R3HCC1L		SNV							ENST00000298999	protein_coding			hmmpanther:PTHR21678,hmmpanther:PTHR21678:SF2		A		C		1587/3379							YES	R3HCC1L,synonymous_variant,p.=,ENST00000298999,NM_014472.4;R3HCC1L,synonymous_variant,p.=,ENST00000370584,NM_001256620.1,NM_138469.2;R3HCC1L,5_prime_UTR_variant,,ENST00000314594,NM_001256619.1;R3HCC1L,intron_variant,,ENST00000370586,NM_001256621.1;							LOW	1284/2337		R3HCL_HUMAN			Transcript			.	ENSP00000298999		CCDS31267.1			1	
NDST1	0	LGGM	GRCh37	5	149901014	149901014	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	8	8	.	.	ENST00000261797.6:c.198C>T	p.Arg66=	p.R66=	ENST00000261797	NM_001543.4	66	cgC/cgT	0	1	1	UPI000012CDA5	0		ENST00000261797		ENSG00000070614	7680		16			HGNC	p.R66R	rs765475370	NDST1		SNV			1				ENST00000523767	protein_coding			Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF30		R		T		700/8030	3.05E-05			E5RGN9_HUMAN,E5RG58_HUMAN,E5RG24_HUMAN			YES	NDST1,synonymous_variant,p.=,ENST00000261797,NM_001543.4;NDST1,synonymous_variant,p.=,ENST00000523767,;NDST1,synonymous_variant,p.=,ENST00000522491,;NDST1,synonymous_variant,p.=,ENST00000519157,;NDST1,downstream_gene_variant,,ENST00000518299,;NDST1,downstream_gene_variant,,ENST00000518346,;NDST1,downstream_gene_variant,,ENST00000524161,;							LOW	198/2649		NDST1_HUMAN			Transcript			.	ENSP00000261797	1.65E-05	CCDS34277.1			1	
SLC9A2	0	LGGM	GRCh37	2	103324588	103324588	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	28	9	.	.	ENST00000233969.2:c.2079C>A	p.Ser693Arg	p.S693R	ENST00000233969	NM_003048.3	693	agC/agA	0	1	1	UPI000012FD21	0	NA	ENST00000233969		ENSG00000115616	11072		37	0.895		HGNC	p.S693R		SLC9A2		SNV							ENST00000233969	protein_coding	getma.org/?cm=var&var=hg19,2,103324588,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10110:SF89,hmmpanther:PTHR10110		S/R		A	low	2221/5410		getma.org/?cm=msa&ty=f&p=SL9A2_HUMAN&rb=686&re=812&var=S693R	tolerated(0.19)				YES	SLC9A2,missense_variant,p.Ser693Arg,ENST00000233969,NM_003048.3;							MODERATE	2079/2439	S693R	SL9A2_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000233969		CCDS2062.1			1	
ZMYM1	0	LGGM	GRCh37	1	35579580	35579580	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	22	9	.	.	ENST00000373330.1:c.2149G>T	p.Asp717Tyr	p.D717Y	ENST00000373330		717	Gat/Tat	0	1		UPI0000203ED6	0	NA	ENST00000359858		ENSG00000197056	26253		31	2.975		HGNC	p.D717Y		ZMYM1		SNV							ENST00000373330	protein_coding	getma.org/?cm=var&var=hg19,1,35579580,G,T&fts=all		Pfam_domain:PF14291,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF88,Superfamily_domains:SSF53098		D/Y		T	medium	2299/4175		getma.org/?cm=msa&ty=f&p=ZMYM1_HUMAN&rb=493&re=728&var=D717Y	deleterious(0)	Q9H5R2_HUMAN,Q5SW02_HUMAN,Q5SVZ7_HUMAN				ZMYM1,missense_variant,p.Asp717Tyr,ENST00000373330,;ZMYM1,missense_variant,p.Asp717Tyr,ENST00000359858,NM_024772.3;ZMYM1,downstream_gene_variant,,ENST00000417119,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000373329,;ZMYM1,non_coding_transcript_exon_variant,,ENST00000488455,;ZMYM1,downstream_gene_variant,,ENST00000475654,;ZMYM1,downstream_gene_variant,,ENST00000463393,;							MODERATE	2149/3429	D717Y	ZMYM1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000352920		CCDS41302.1			1	
UTP20	0	LGGM	GRCh37	12	101689332	101689332	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	21	9	.	.	ENST00000261637.4:c.1326T>A	p.Ala442=	p.A442=	ENST00000261637	NM_014503.2	442	gcT/gcA	0	1	1	UPI00001FB38B	0		ENST00000261637		ENSG00000120800	17897		30			HGNC	p.A442A		UTP20		SNV							ENST00000261637	protein_coding			hmmpanther:PTHR17695,hmmpanther:PTHR17695:SF11,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		A		A		1500/9025							YES	UTP20,synonymous_variant,p.=,ENST00000261637,NM_014503.2;UTP20,downstream_gene_variant,,ENST00000551825,;UTP20,downstream_gene_variant,,ENST00000551998,;							LOW	1326/8358		UTP20_HUMAN			Transcript			.	ENSP00000261637		CCDS9081.1			1	
MAGED1	0	LGGM	GRCh37	X	51638613	51638613	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	2	9	.	.	ENST00000375695.2:c.678T>C	p.Asn226=	p.N226=	ENST00000375695	NM_001005333.1	226	aaT/aaC	0	1		UPI000006CD3E	0		ENST00000326587		ENSG00000179222	6813		11			HGNC	p.N170N		MAGED1		SNV							ENST00000375772	protein_coding			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF28		N		C		700/2747								MAGED1,synonymous_variant,p.=,ENST00000375695,NM_001005333.1;MAGED1,synonymous_variant,p.=,ENST00000375722,;MAGED1,synonymous_variant,p.=,ENST00000326587,NM_006986.3;MAGED1,synonymous_variant,p.=,ENST00000375772,NM_001005332.1;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,;MAGED1,non_coding_transcript_exon_variant,,ENST00000470461,;MAGED1,non_coding_transcript_exon_variant,,ENST00000482188,;MAGED1,upstream_gene_variant,,ENST00000473931,;MAGED1,upstream_gene_variant,,ENST00000482599,;							LOW	510/2337		MAGD1_HUMAN			Transcript			.	ENSP00000325333		CCDS14337.1			1	
TRPC4	0	LGGM	GRCh37	13	38266138	38266138	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	5	9	.	.	ENST00000379681.3:c.1232T>A	p.Leu411Gln	p.L411Q	ENST00000379681	NM_001135955.1	411	cTg/cAg	0	1		UPI00001374B2	0	NA	ENST00000379705		ENSG00000133107	12336		14	2.395		HGNC	p.L411Q		TRPC4		SNV							ENST00000379673	protein_coding	getma.org/?cm=var&var=hg19,13,38266138,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10117:SF25,hmmpanther:PTHR10117,TIGRFAM_domain:TIGR00870,Pfam_domain:PF00520		L/Q		T	medium	2090/4059		getma.org/?cm=msa&ty=f&p=TRPC4_HUMAN&rb=404&re=620&var=L411Q	deleterious(0)					TRPC4,missense_variant,p.Leu411Gln,ENST00000379705,;TRPC4,missense_variant,p.Leu411Gln,ENST00000379681,NM_001135955.1,NM_016179.2,NM_003306.1;TRPC4,missense_variant,p.Leu411Gln,ENST00000447043,;TRPC4,missense_variant,p.Leu411Gln,ENST00000358477,;TRPC4,missense_variant,p.Leu238Gln,ENST00000338947,NM_001135958.1;TRPC4,missense_variant,p.Leu411Gln,ENST00000355779,NM_001135957.1;TRPC4,missense_variant,p.Leu411Gln,ENST00000379673,NM_001135956.1;TRPC4,missense_variant,p.Leu411Gln,ENST00000426868,;TRPC4,missense_variant,p.Leu238Gln,ENST00000379679,;TRPC4,intron_variant,,ENST00000488717,;							MODERATE	1232/2934	L411Q	TRPC4_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000369027		CCDS9365.1			1	
TJP1	0	LGGM	GRCh37	15	30008822	30008822	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	9	.	.	ENST00000346128.6:c.4195T>G	p.Ser1399Ala	p.S1399A	ENST00000346128	NM_175610.2	1399	Tct/Gct	0	1	1	UPI000013DC83	0	NA	ENST00000346128		ENSG00000104067	11827		27	1.7		HGNC	p.S1399A		TJP1		SNV							ENST00000356107	protein_coding	getma.org/?cm=var&var=hg19,15,30008822,A,C&fts=all		hmmpanther:PTHR13865,hmmpanther:PTHR13865:SF25,Low_complexity_(Seg):seg		S/A		C	low	4670/7950		getma.org/?cm=msa&ty=f&p=ZO1_HUMAN&rb=1394&re=1593&var=S1399A	tolerated_low_confidence(0.42)				YES	TJP1,missense_variant,p.Ser1399Ala,ENST00000346128,NM_175610.2,NM_003257.3;TJP1,missense_variant,p.Ser1323Ala,ENST00000400011,;TJP1,missense_variant,p.Ser1399Ala,ENST00000356107,;TJP1,missense_variant,p.Ser1319Ala,ENST00000545208,;TJP1,downstream_gene_variant,,ENST00000561307,;							MODERATE	4195/5247	S1399A	ZO1_HUMAN			Transcript		benign(0.003)	.	ENSP00000281537		CCDS42007.1			1	
ZNF804B	0	LGGM	GRCh37	7	88963733	88963733	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	9	.	.	ENST00000333190.4:c.1437T>A	p.Tyr479Ter	p.Y479*	ENST00000333190	NM_181646.2	479	taT/taA	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		27	0		HGNC	p.Y479X		ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88963733,T,A&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		Y/*		A	NA	2046/4659		NA					YES	ZNF804B,stop_gained,p.Tyr479Ter,ENST00000333190,NM_181646.2;							HIGH	1437/4050	Y479*	Z804B_HUMAN			Transcript			.	ENSP00000329638		CCDS5613.1			1	
PRUNE2	0	LGGM	GRCh37	9	79461440	79461440	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	20	10	.	.	ENST00000376718.3:c.499C>T	p.Arg167Cys	p.R167C	ENST00000376718	NM_015225.2	167	Cgc/Tgc	0	1	1	UPI0001612CC0	0	getma.org/pdb.php?prot=PRUN2_HUMAN&from=1&to=200&var=R167C	ENST00000376718		ENSG00000106772	25209		30	0		HGNC	p.R167C	COSM1555372,COSM1555371	PRUNE2		SNV						1,1	ENST00000376718	protein_coding	getma.org/?cm=var&var=hg19,9,79461440,G,A&fts=all		hmmpanther:PTHR12112:SF11,hmmpanther:PTHR12112,Gene3D:1wpnA00,Superfamily_domains:SSF64182		R/C		A	neutral	623/12584		getma.org/?cm=msa&ty=f&p=PRUN2_HUMAN&rb=1&re=200&var=R167C	deleterious(0)				YES	PRUNE2,missense_variant,p.Arg167Cys,ENST00000376718,NM_015225.2;PRUNE2,missense_variant,p.Arg167Cys,ENST00000376713,;PRUNE2,5_prime_UTR_variant,,ENST00000428286,;PRUNE2,non_coding_transcript_exon_variant,,ENST00000492157,;PRUNE2,downstream_gene_variant,,ENST00000489555,;					1,1		MODERATE	499/9267	R167C	PRUN2_HUMAN			Transcript		benign(0.439)	.	ENSP00000365908		CCDS47982.1			1	
COL5A3	0	LGGM	GRCh37	19	10088129	10088129	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	23	10	.	.	ENST00000264828.3:c.3146G>A	p.Gly1049Asp	p.G1049D	ENST00000264828	NM_015719.3	1049	gGc/gAc	0	1	1	UPI00002032A3	0	getma.org/pdb.php?prot=CO5A3_HUMAN&from=991&to=1190&var=G1049D	ENST00000264828		ENSG00000080573	14864		33	3.835		HGNC	p.G1049D		COL5A3		SNV							ENST00000264828	protein_coding	getma.org/?cm=var&var=hg19,19,10088129,C,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF400		G/D		T	high	3232/6174		getma.org/?cm=msa&ty=f&p=CO5A3_HUMAN&rb=991&re=1190&var=G1049D					YES	COL5A3,missense_variant,p.Gly1049Asp,ENST00000264828,NM_015719.3;							MODERATE	3146/5238	G1049D	CO5A3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264828		CCDS12222.1			1	
RTN4IP1	0	LGGM	GRCh37	6	107040079	107040079	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	4	10	.	.	ENST00000369063.3:c.766A>G	p.Lys256Glu	p.K256E	ENST00000369063	NM_032730.4	256	Aaa/Gaa	0	1	1	UPI000002DFDB	0	getma.org/pdb.php?prot=RT4I1_HUMAN&from=247&to=393&var=K256E	ENST00000369063		ENSG00000130347	18647		14	2.645		HGNC	p.K256E		RTN4IP1		SNV							ENST00000369063	protein_coding	getma.org/?cm=var&var=hg19,6,107040079,T,C&fts=all		hmmpanther:PTHR11695:SF294,hmmpanther:PTHR11695,Gene3D:3.40.50.720,Pfam_domain:PF13602,SMART_domains:SM00829,Superfamily_domains:SSF51735		K/E		C	medium	1232/1682		getma.org/?cm=msa&ty=f&p=RT4I1_HUMAN&rb=247&re=393&var=K256E	tolerated(0.07)	B2R9Y1_HUMAN			YES	RTN4IP1,missense_variant,p.Lys256Glu,ENST00000369063,NM_032730.4;RTN4IP1,intron_variant,,ENST00000539449,;							MODERATE	766/1191	K256E	RT4I1_HUMAN			Transcript		benign(0.064)	.	ENSP00000358059		CCDS5056.1			1	
RAD17	0	LGGM	GRCh37	5	68680647	68680647	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	11	10	.	.	ENST00000509734.1:c.565T>C	p.Tyr189His	p.Y189H	ENST00000509734		189	Tat/Cat	0	1		UPI000013DD06	0	getma.org/pdb.php?prot=RAD17_HUMAN&from=83&to=593&var=Y189H	ENST00000380774		ENSG00000152942	9807		21	2.555		HGNC	p.Y178H		RAD17		SNV							ENST00000354312	protein_coding	getma.org/?cm=var&var=hg19,5,68680647,T,C&fts=all		hmmpanther:PTHR12172,TIGRFAM_domain:TIGR00602,Pfam_domain:PF03215,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		Y/H		C	medium	627/2117		getma.org/?cm=msa&ty=f&p=RAD17_HUMAN&rb=83&re=593&var=Y189H	tolerated(0.42)	D6RHU1_HUMAN				RAD17,missense_variant,p.Tyr189His,ENST00000509734,;RAD17,missense_variant,p.Tyr178His,ENST00000305138,NM_002873.1,NM_001278622.1;RAD17,missense_variant,p.Tyr178His,ENST00000354868,NM_133338.2;RAD17,missense_variant,p.Tyr178His,ENST00000361732,NM_133343.1;RAD17,missense_variant,p.Tyr178His,ENST00000354312,NM_133342.2;RAD17,missense_variant,p.Tyr178His,ENST00000345306,NM_133344.2;RAD17,missense_variant,p.Tyr13His,ENST00000358030,NM_133340.2;RAD17,missense_variant,p.Tyr13His,ENST00000521422,;RAD17,missense_variant,p.Tyr92His,ENST00000282891,NM_133341.2;RAD17,missense_variant,p.Tyr189His,ENST00000380774,NM_133339.2;RAD17,missense_variant,p.Tyr13His,ENST00000512785,;RAD17,downstream_gene_variant,,ENST00000506564,;RAD17,non_coding_transcript_exon_variant,,ENST00000514626,;RAD17,intron_variant,,ENST00000504177,;RAD17,downstream_gene_variant,,ENST00000514066,;RAD17,upstream_gene_variant,,ENST00000508320,;							MODERATE	565/2046	Y189H	RAD17_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000370151		CCDS4003.1			1	
KLF12	0	LGGM	GRCh37	13	74269693	74269693	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	23	10	.	.	ENST00000377669.2:c.1143C>T	p.Asp381=	p.D381=	ENST00000377669	NM_007249.4	381	gaC/gaT	0	1	1	UPI000013D144	0		ENST00000377669		ENSG00000118922	6346		33			HGNC	p.D381D		KLF12		SNV							ENST00000377669	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR23223:SF136,hmmpanther:PTHR23223,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		D		A		1170/10637							YES	KLF12,synonymous_variant,p.=,ENST00000377669,NM_007249.4;KLF12,synonymous_variant,p.=,ENST00000377666,;							LOW	1143/1209		KLF12_HUMAN			Transcript			.	ENSP00000366897		CCDS9449.1			1	
SDK2	0	LGGM	GRCh37	17	71426654	71426654	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	4	11	.	.	ENST00000392650.3:c.1579A>G	p.Ile527Val	p.I527V	ENST00000392650	NM_001144952.1	527	Atc/Gtc	0	1	1	UPI0000E5A088	0	getma.org/pdb.php?prot=SDK2_HUMAN&from=496&to=586&var=I527V	ENST00000392650		ENSG00000069188	19308		15	-0.065		HGNC	p.I527V		SDK2		SNV							ENST00000388726	protein_coding	getma.org/?cm=var&var=hg19,17,71426654,T,C&fts=all		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		I/V		C	neutral	1580/10723		getma.org/?cm=msa&ty=f&p=SDK2_HUMAN&rb=496&re=586&var=I527V	tolerated(1)				YES	SDK2,missense_variant,p.Ile527Val,ENST00000392650,NM_001144952.1;SDK2,missense_variant,p.Ile527Val,ENST00000388726,;SDK2,non_coding_transcript_exon_variant,,ENST00000479356,;							MODERATE	1579/6519	I527V	SDK2_HUMAN			Transcript		benign(0.002)	.	ENSP00000376421		CCDS45769.1			1	
TLR5	0	LGGM	GRCh37	1	223284287	223284287	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	23	11	.	.	ENST00000540964.1:c.2087A>G	p.Tyr696Cys	p.Y696C	ENST00000540964		696	tAt/tGt	0	1		UPI0000205D14	0	getma.org/pdb.php?prot=TLR5_HUMAN&from=695&to=835&var=Y696C	ENST00000366881		ENSG00000187554	11851		34	2.78		HGNC	p.Y696C		TLR5		SNV			1				ENST00000342210	protein_coding	getma.org/?cm=var&var=hg19,1,223284287,T,C&fts=all		Superfamily_domains:SSF52200,SMART_domains:SM00255,Gene3D:3.40.50.10140,Pfam_domain:PF01582,hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF221,PROSITE_profiles:PS50104		Y/C		C	medium	2728/3368		getma.org/?cm=msa&ty=f&p=TLR5_HUMAN&rb=695&re=835&var=Y696C	deleterious(0)	B1AZ06_HUMAN				TLR5,missense_variant,p.Tyr696Cys,ENST00000540964,;TLR5,missense_variant,p.Tyr696Cys,ENST00000366881,NM_003268.5;TLR5,missense_variant,p.Tyr696Cys,ENST00000342210,;TLR5,downstream_gene_variant,,ENST00000407096,;							MODERATE	2087/2577	Y696C	TLR5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355846		CCDS31033.1			1	
PDGFD	0	LGGM	GRCh37	11	103780424	103780424	+	stop_lost	Nonstop_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	29	11	.	.	ENST00000393158.2:c.1111T>C	p.Ter371GlnextTer16	p.*371Qext*16	ENST00000393158		371	Taa/Caa	0	1	1	UPI0000034811	0		ENST00000393158		ENSG00000170962	30620		40			HGNC	p.X365Q		PDGFD		SNV							ENST00000302251	protein_coding					*/Q		G		1291/3801							YES	PDGFD,stop_lost,p.Ter365GlnextTer16,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,stop_lost,p.Ter371GlnextTer16,ENST00000393158,;							HIGH	1111/1113		PDGFD_HUMAN			Transcript			.	ENSP00000376865		CCDS41703.1			1	
ITGAM	0	LGGM	GRCh37	16	31288322	31288322	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	11	11	.	.	ENST00000544665.3:c.1165T>A	p.Phe389Ile	p.F389I	ENST00000544665	NM_001145808.1	389	Ttc/Atc	0	1		UPI00000498C2	0	getma.org/pdb.php?prot=ITAM_HUMAN&from=329&to=519&var=F389I	ENST00000287497		ENSG00000169896	6149		22	2.39		HGNC	p.F389I		ITGAM		SNV			1				ENST00000287497	protein_coding	getma.org/?cm=var&var=hg19,16,31288322,T,A&fts=all		PROSITE_profiles:PS51470,hmmpanther:PTHR23220:SF76,hmmpanther:PTHR23220,Gene3D:3nigC00,Superfamily_domains:SSF69318		F/I		A	medium	1240/3595		getma.org/?cm=msa&ty=f&p=ITAM_HUMAN&rb=329&re=519&var=F389I	deleterious(0)	B3KXM6_HUMAN				ITGAM,missense_variant,p.Phe389Ile,ENST00000544665,NM_001145808.1,NM_000632.3;ITGAM,missense_variant,p.Phe389Ile,ENST00000287497,;ITGAM,missense_variant,p.Phe89Ile,ENST00000567031,;ITGAM,downstream_gene_variant,,ENST00000570242,;							MODERATE	1165/3459	F389I	ITAM_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000287497		CCDS45470.1			1	
B4GALT6	0	LGGM	GRCh37	18	29246330	29246330	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	16	11	.	.	ENST00000306851.5:c.121A>G	p.Thr41Ala	p.T41A	ENST00000306851	NM_004775.3	41	Aca/Gca	0	1	1	UPI0000126721	0	NA	ENST00000306851		ENSG00000118276	929		27	2.215		HGNC	p.T41A		B4GALT6		SNV							ENST00000306851	protein_coding	getma.org/?cm=var&var=hg19,18,29246330,T,C&fts=all		hmmpanther:PTHR19300,hmmpanther:PTHR19300:SF29		T/A		C	medium	418/3891		getma.org/?cm=msa&ty=f&p=B4GT6_HUMAN&rb=1&re=107&var=T41A	tolerated(0.14)	Q6NT00_HUMAN,J3QQY9_HUMAN			YES	B4GALT6,missense_variant,p.Thr41Ala,ENST00000306851,NM_004775.3;B4GALT6,missense_variant,p.Thr41Ala,ENST00000383131,;B4GALT6,5_prime_UTR_variant,,ENST00000579372,;B4GALT6,intron_variant,,ENST00000237019,;RNU6-1002P,downstream_gene_variant,,ENST00000516570,;							MODERATE	121/1149	T41A	B4GT6_HUMAN			Transcript		benign(0.408)	.	ENSP00000306459		CCDS11900.1			1	
GRM5	0	LGGM	GRCh37	11	88300958	88300958	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	11	.	.	ENST00000418177.2:c.1893T>C	p.Cys631=	p.C631=	ENST00000418177		631	tgT/tgC	0	1		UPI000012F081	0		ENST00000305447		ENSG00000168959	4597		29			HGNC	p.C631C		GRM5		SNV							ENST00000418177	protein_coding			Pfam_domain:PF00003,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF30,Transmembrane_helices:TMhelix		C		G		2043/4571								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,;							LOW	1893/3639		GRM5_HUMAN			Transcript			.	ENSP00000306138		CCDS44694.1			1	
DFNB31	0	LGGM	GRCh37	9	117165108	117165108	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	7	12	.	.	ENST00000362057.3:c.2650A>G	p.Ile884Val	p.I884V	ENST00000362057	NM_001173425.1	884	Atc/Gtc	0	1	1	UPI00001C1EA6	0	getma.org/pdb.php?prot=WHRN_HUMAN&from=816&to=890&var=I884V	ENST00000362057		ENSG00000095397	16361		19	3.09		HGNC	p.I501V		DFNB31		SNV			1				ENST00000265134	protein_coding	getma.org/?cm=var&var=hg19,9,117165108,T,C&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50106,hmmpanther:PTHR23116:SF31,hmmpanther:PTHR23116,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		I/V		C	medium	2819/3566		getma.org/?cm=msa&ty=f&p=WHRN_HUMAN&rb=816&re=890&var=I884V	deleterious(0)				YES	DFNB31,missense_variant,p.Ile884Val,ENST00000362057,NM_001173425.1,NM_015404.3;DFNB31,missense_variant,p.Ile533Val,ENST00000374059,;DFNB31,missense_variant,p.Ile501Val,ENST00000265134,NM_001083885.2;RP11-9M16.2,upstream_gene_variant,,ENST00000448674,;							MODERATE	2650/2724	I884V	WHRN_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354623		CCDS6806.1			1	
RP11-477N12.3	0	LGGM	GRCh37	17	9725086	9725086	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	4	12	.	.	ENST00000399363.4:c.303C>T	p.Asn101=	p.N101=	ENST00000399363		101	aaC/aaT	0	1	1	UPI000004E879	0		ENST00000399363		ENSG00000214978			16			Clone_based_vega_gene	p.N101N	rs549715077	RP11-477N12.3		SNV							ENST00000399363	protein_coding		A:0	Pfam_domain:PF07803,hmmpanther:PTHR10671:SF27,hmmpanther:PTHR10671		N		A		303/882	0.000235			K7EL98_HUMAN	A:0	A:0	YES	RP11-477N12.3,synonymous_variant,p.=,ENST00000399363,;GLP2R,upstream_gene_variant,,ENST00000262441,NM_004246.1;GLP2R,upstream_gene_variant,,ENST00000574745,;GLP2R,upstream_gene_variant,,ENST00000458005,;		A:0.0004					LOW	303/882		GSG1M_HUMAN		A:0.002	Transcript			.	ENSP00000465978	4.55E-05			A:0	1	
STAB2	0	LGGM	GRCh37	12	104034002	104034002	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	16	12	.	.	ENST00000388887.2:c.1008A>G	p.Ala336=	p.A336=	ENST00000388887	NM_017564.9	336	gcA/gcG	0	1	1	UPI00001ADDF4	0		ENST00000388887		ENSG00000136011	18629		28			HGNC	p.A336A		STAB2		SNV							ENST00000388887	protein_coding			PROSITE_profiles:PS50026,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Gene3D:2gy5A03,SMART_domains:SM00181,SMART_domains:SM00286		A		G		1212/8251				H0YIF3_HUMAN			YES	STAB2,synonymous_variant,p.=,ENST00000388887,NM_017564.9;							LOW	1008/7656		STAB2_HUMAN			Transcript			.	ENSP00000373539		CCDS31888.1			1	
LRRC15	0	LGGM	GRCh37	3	194081223	194081223	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	40	13	.	.	ENST00000439944.2:c.568A>G	p.Ser190Gly	p.S190G	ENST00000439944	NM_001135057.2	190	Agc/Ggc	0	1		UPI00005764CF	0	getma.org/pdb.php?prot=LRC15_HUMAN&from=173&to=233&var=S184G	ENST00000347624		ENSG00000172061	20818		53	1.04		HGNC	p.S190G		LRRC15		SNV							ENST00000428839	protein_coding	getma.org/?cm=var&var=hg19,3,194081223,T,C&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF15,SMART_domains:SM00369,Superfamily_domains:SSF52058		S/G		C	low	636/5883		getma.org/?cm=msa&ty=f&p=LRC15_HUMAN&rb=173&re=233&var=S184G	tolerated(0.11)					LRRC15,missense_variant,p.Ser184Gly,ENST00000347624,NM_130830.4;LRRC15,missense_variant,p.Ser190Gly,ENST00000439944,NM_001135057.2;LRRC15,missense_variant,p.Ser190Gly,ENST00000428839,;							MODERATE	550/1746	S184G	LRC15_HUMAN			Transcript		benign(0.021)	.	ENSP00000306276		CCDS3306.1			1	
PTPDC1	0	LGGM	GRCh37	9	96859792	96859792	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	28	13	.	.	ENST00000288976.3:c.938T>G	p.Val313Gly	p.V313G	ENST00000288976	NM_001253829.1	313	gTc/gGc	0	1		UPI000019097B	0	NA	ENST00000375360		ENSG00000158079	30184		41	2.47		HGNC	p.V261G		PTPDC1		SNV							ENST00000375360	protein_coding	getma.org/?cm=var&var=hg19,9,96859792,T,G&fts=all		hmmpanther:PTHR23339,hmmpanther:PTHR23339:SF25		V/G		G	medium	1122/4517		getma.org/?cm=msa&ty=f&p=PTPC1_HUMAN&rb=244&re=443&var=V261G	deleterious(0)					PTPDC1,missense_variant,p.Val261Gly,ENST00000375360,NM_001253830.1,NM_177995.2;PTPDC1,missense_variant,p.Val313Gly,ENST00000288976,NM_001253829.1,NM_152422.4;PTPDC1,upstream_gene_variant,,ENST00000467049,;							MODERATE	782/2265	V261G	PTPC1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000364509		CCDS6707.1			1	
REL	0	LGGM	GRCh37	2	61147205	61147205	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	26	13	.	.	ENST00000295025.8:c.883A>G	p.Lys295Glu	p.K295E	ENST00000295025	NM_002908.2	295	Aag/Gag	0	1	1	UPI000013367B	0	getma.org/pdb.php?prot=REL_HUMAN&from=179&to=378&var=K295E	ENST00000295025		ENSG00000162924	9954		39	1.525		HGNC	p.K295E		REL		SNV							ENST00000394479	protein_coding	getma.org/?cm=var&var=hg19,2,61147205,A,G&fts=all		hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF4,Low_complexity_(Seg):seg,Superfamily_domains:SSF81296		K/E		G	low	1203/11255		getma.org/?cm=msa&ty=f&p=REL_HUMAN&rb=179&re=378&var=K295E	deleterious(0)				YES	REL,missense_variant,p.Lys295Glu,ENST00000295025,NM_002908.2;REL,missense_variant,p.Lys295Glu,ENST00000394479,;							MODERATE	883/1860	K295E	REL_HUMAN			Transcript		benign(0.345)	.	ENSP00000295025		CCDS1864.1			1	
PLEKHA7	0	LGGM	GRCh37	11	16810697	16810697	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	13	.	.	ENST00000355661.3:c.3303G>A	p.Thr1101=	p.T1101=	ENST00000355661		1101	acG/acA	0	1	1	UPI0000456498	0		ENST00000355661		ENSG00000166689	27049		31			HGNC	p.T1101T	rs372525564	PLEKHA7		SNV	T:0						ENST00000531066	protein_coding			hmmpanther:PTHR12752:SF4,hmmpanther:PTHR12752		T	T:0.0001	T		3314/4980	1.51E-05			E9PL74_HUMAN,E9PIK1_HUMAN			YES	PLEKHA7,synonymous_variant,p.=,ENST00000355661,;PLEKHA7,synonymous_variant,p.=,ENST00000448080,NM_175058.4;PLEKHA7,synonymous_variant,p.=,ENST00000531066,;PLEKHA7,synonymous_variant,p.=,ENST00000530489,;PLEKHA7,3_prime_UTR_variant,,ENST00000532079,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000332954,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000533901,;PLEKHA7,upstream_gene_variant,,ENST00000529049,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000531776,;PLEKHA7,non_coding_transcript_exon_variant,,ENST00000525781,;PLEKHA7,downstream_gene_variant,,ENST00000525177,;PLEKHA7,downstream_gene_variant,,ENST00000533251,;							LOW	3303/3366		PKHA7_HUMAN			Transcript			.	ENSP00000347883	8.24E-06	CCDS31434.1			1	
SYNE2	0	LGGM	GRCh37	14	64519200	64519200	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	22	13	.	.	ENST00000358025.3:c.8569A>G	p.Ile2857Val	p.I2857V	ENST00000358025	NM_182914.2	2857	Ata/Gta	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		35	0.805		HGNC	p.I2890V		SYNE2		SNV			1				ENST00000554584	protein_coding	getma.org/?cm=var&var=hg19,14,64519200,A,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		I/V		G	low	8781/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=2327&re=3682&var=I2857V		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Ile2857Val,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ile2857Val,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ile2890Val,ENST00000554584,;SYNE2,5_prime_UTR_variant,,ENST00000357395,;SYNE2,downstream_gene_variant,,ENST00000557005,;							MODERATE	8569/20658	I2857V	SYNE2_HUMAN			Transcript		benign(0.011)	.	ENSP00000341781		CCDS41963.1			1	
ATP1A1	0	LGGM	GRCh37	1	116927465	116927465	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	21	14	.	.	ENST00000537345.1:c.183+1G>A		p.X61_splice	ENST00000537345	NM_001160233.1			0	1		UPI0000124FBB	0		ENST00000295598		ENSG00000163399	799		35			HGNC	-		ATP1A1		SNV							ENST00000418797	protein_coding							A		-/3654				Q5TC02_HUMAN,Q5TC01_HUMAN				ATP1A1,splice_donor_variant,,ENST00000537345,NM_001160233.1;ATP1A1,splice_donor_variant,,ENST00000295598,NM_000701.7;ATP1A1,splice_donor_variant,,ENST00000369496,NM_001160234.1;ATP1A1,splice_donor_variant,,ENST00000369494,;ATP1A1,splice_donor_variant,,ENST00000418797,;AL136376.1,upstream_gene_variant,,ENST00000598661,;ATP1A1,upstream_gene_variant,,ENST00000491156,;ATP1A1,upstream_gene_variant,,ENST00000463382,;ATP1A1,non_coding_transcript_exon_variant,,ENST00000488733,;							HIGH	183/3072		AT1A1_HUMAN			Transcript			.	ENSP00000295598		CCDS887.1			1	
DLEC1	0	LGGM	GRCh37	3	38139011	38139011	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	14	14	.	.	ENST00000308059.6:c.2448C>T	p.Val816=	p.V816=	ENST00000308059		816	gtC/gtT	0	1	1	UPI00006EB134	0		ENST00000308059		ENSG00000008226	2899		28			HGNC	p.V816V	rs758661030,COSM372234,COSM372235	DLEC1	6.08E-05	SNV			1			0,1,1	ENST00000346219	protein_coding			hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF8		V		T		2469/6426							YES	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,;	0.000116				0,1,1		LOW	2448/5268		DLEC1_HUMAN			Transcript			.	ENSP00000308597	1.65E-05	CCDS2672.2			1	
AHNAK2	0	LGGM	GRCh37	14	105421878	105421878	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	19	14	.	.	ENST00000333244.5:c.408C>T	p.Ile136=	p.I136=	ENST00000333244	NM_138420.2	136	atC/atT	0	1	1	UPI00015BB2CA	0		ENST00000333244		ENSG00000185567	20125		33			HGNC	p.I136I	COSM3494253	AHNAK2		SNV						1	ENST00000333244	protein_coding			Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37,SMART_domains:SM00228,Superfamily_domains:SSF50156		I		A		528/18254							YES	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,upstream_gene_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,upstream_gene_variant,,ENST00000555544,;					1		LOW	408/17388		AHNK2_HUMAN			Transcript			.	ENSP00000353114		CCDS45177.1			1	
MAP4K3	0	LGGM	GRCh37	2	39499641	39499641	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	24	14	.	.	ENST00000263881.3:c.1837T>C	p.Cys613Arg	p.C613R	ENST00000263881	NM_003618.3	613	Tgc/Cgc	0	1	1	UPI00000747E6	0	NA	ENST00000263881		ENSG00000011566	6865		38	0.69		HGNC	p.C529R		MAP4K3		SNV							ENST00000437545	protein_coding	getma.org/?cm=var&var=hg19,2,39499641,A,G&fts=all		PROSITE_profiles:PS50219,hmmpanther:PTHR24361:SF205,hmmpanther:PTHR24361,Pfam_domain:PF00780,SMART_domains:SM00036,PIRSF_domain:PIRSF038172		C/R		G	neutral	2162/4362		getma.org/?cm=msa&ty=f&p=M4K3_HUMAN&rb=566&re=864&var=C613R	deleterious(0)	Q53RV1_HUMAN,H7C1A4_HUMAN,B4DSS3_HUMAN,B3KMM5_HUMAN			YES	MAP4K3,missense_variant,p.Cys613Arg,ENST00000263881,NM_003618.3;MAP4K3,missense_variant,p.Cys592Arg,ENST00000341681,NM_001270425.1;MAP4K3,missense_variant,p.Cys529Arg,ENST00000437545,;MAP4K3,missense_variant,p.Cys166Arg,ENST00000536018,;MAP4K3,non_coding_transcript_exon_variant,,ENST00000495648,;							MODERATE	1837/2685	C613R	M4K3_HUMAN			Transcript		possibly_damaging(0.632)	.	ENSP00000263881		CCDS1803.1			1	
PTCHD3	0	LGGM	GRCh37	10	27687901	27687901	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	17	14	.	.	ENST00000438700.3:c.1626T>C	p.Gly542=	p.G542=	ENST00000438700	NM_001034842.3	542	ggT/ggC	0	1	1	UPI000004E892	0		ENST00000438700		ENSG00000182077	24776		31			HGNC	p.G542G		PTCHD3		SNV							ENST00000438700	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF60,Pfam_domain:PF02460,Gene3D:2j8sB01,Superfamily_domains:SSF82866		G		G		1744/2529				I0CMK0_HUMAN			YES	PTCHD3,synonymous_variant,p.=,ENST00000438700,NM_001034842.3;							LOW	1626/2304		PTHD3_HUMAN			Transcript			.	ENSP00000417658		CCDS31173.1			1	
DHX57	0	LGGM	GRCh37	2	39083519	39083519	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	19	14	.	.	ENST00000295373.6:c.1672C>T	p.Arg558Cys	p.R558C	ENST00000295373	NM_198963.1	558	Cgt/Tgt	0	1		UPI0000231C8A	0	getma.org/pdb.php?prot=DHX57_HUMAN&from=548&to=709&var=R558C	ENST00000457308		ENSG00000163214	20086	8.64E-05	33	2.845		HGNC	p.R558C	rs372022899	DHX57		SNV	A:0						ENST00000295373	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,39083519,G,A&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF106		R/C	A:0.0001	A	medium	1578/4109		getma.org/?cm=msa&ty=f&p=DHX57_HUMAN&rb=548&re=709&var=R558C	deleterious(0.02)	F8WAZ3_HUMAN,C9J207_HUMAN				DHX57,missense_variant,p.Arg558Cys,ENST00000295373,NM_198963.1;DHX57,non_coding_transcript_exon_variant,,ENST00000492042,;DHX57,downstream_gene_variant,,ENST00000479345,;DHX57,missense_variant,p.Arg456Cys,ENST00000457308,;DHX57,non_coding_transcript_exon_variant,,ENST00000460193,;DHX57,non_coding_transcript_exon_variant,,ENST00000474104,;							MODERATE	1366/1419	R558C				Transcript		possibly_damaging(0.498)	.	ENSP00000405111	8.24E-06				1	
MCM2	0	LGGM	GRCh37	3	127335755	127335755	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	20	14	.	.	ENST00000265056.7:c.1567G>A	p.Gly523Arg	p.G523R	ENST00000265056	NM_004526.3	523	Gga/Aga	0	1	1	UPI00001A3E4E	0	getma.org/pdb.php?prot=MCM2_HUMAN&from=460&to=803&var=G523R	ENST00000265056		ENSG00000073111	6944		34	4.82		HGNC	p.G523R		MCM2		SNV							ENST00000265056	protein_coding	getma.org/?cm=var&var=hg19,3,127335755,G,A&fts=all		Prints_domain:PR01657,Superfamily_domains:SSF52540,SMART_domains:SM00350,Pfam_domain:PF00493,Gene3D:3.40.50.300,hmmpanther:PTHR11630:SF44,hmmpanther:PTHR11630,PROSITE_profiles:PS50051		G/R		A	high	1811/3619		getma.org/?cm=msa&ty=f&p=MCM2_HUMAN&rb=460&re=803&var=G523R	deleterious(0)	Q9BWF4_HUMAN,C9JZ21_HUMAN,C9J013_HUMAN			YES	MCM2,missense_variant,p.Gly523Arg,ENST00000265056,NM_004526.3;MCM2,missense_variant,p.Gly455Arg,ENST00000491422,;MCM2,upstream_gene_variant,,ENST00000468414,;MCM2,3_prime_UTR_variant,,ENST00000474964,;MCM2,3_prime_UTR_variant,,ENST00000477668,;MCM2,upstream_gene_variant,,ENST00000473785,;							MODERATE	1567/2715	G523R	MCM2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265056		CCDS3043.1			1	
MTRF1	0	LGGM	GRCh37	13	41800645	41800645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	19	14	.	.	ENST00000379480.4:c.1048C>T	p.Arg350Cys	p.R350C	ENST00000379480	NM_004294.2	350	Cgt/Tgt	0	1		UPI0000035FC6	0	getma.org/pdb.php?prot=RF1M_HUMAN&from=286&to=399&var=R350C	ENST00000379477		ENSG00000120662	7469		33	2.48		HGNC	p.R350C	rs376093788	MTRF1		SNV							ENST00000379477	protein_coding	getma.org/?cm=var&var=hg19,13,41800645,G,A&fts=all		Gene3D:3.30.160.20,Pfam_domain:PF00472,hmmpanther:PTHR11075,hmmpanther:PTHR11075:SF44,Superfamily_domains:SSF75620		R/C		A	medium	1518/1948	4.50E-05	getma.org/?cm=msa&ty=f&p=RF1M_HUMAN&rb=286&re=399&var=R350C	deleterious(0.04)					MTRF1,missense_variant,p.Arg350Cys,ENST00000379480,NM_004294.2;MTRF1,missense_variant,p.Arg350Cys,ENST00000379477,;MTRF1,missense_variant,p.Arg363Cys,ENST00000430347,;MTRF1,non_coding_transcript_exon_variant,,ENST00000473492,;							MODERATE	1048/1338	R350C	RF1M_HUMAN			Transcript		benign(0.064)	.	ENSP00000368790	2.47E-05	CCDS9378.1			1	
LIFR	0	LGGM	GRCh37	5	38504182	38504182	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	16	15	.	.	ENST00000263409.4:c.1333A>C	p.Asn445His	p.N445H	ENST00000263409	NM_002310.5	445	Aat/Cat	0	1	1	UPI000004CAC2	0	getma.org/pdb.php?prot=LIFR_HUMAN&from=434&to=523&var=N445H	ENST00000263409		ENSG00000113594	6597		31	2.125		HGNC	p.N445H	COSM187279	LIFR		SNV			1			1	ENST00000263409	protein_coding	getma.org/?cm=var&var=hg19,5,38504182,T,G&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF91,PROSITE_profiles:PS50853		N/H		G	medium	1496/10089		getma.org/?cm=msa&ty=f&p=LIFR_HUMAN&rb=434&re=523&var=N445H	deleterious(0.01)	D6RJ94_HUMAN,D6RF33_HUMAN			YES	LIFR,missense_variant,p.Asn445His,ENST00000263409,NM_002310.5;LIFR,missense_variant,p.Asn445His,ENST00000453190,NM_001127671.1;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,;LIFR,upstream_gene_variant,,ENST00000506003,;					1		MODERATE	1333/3294	N445H	LIFR_HUMAN			Transcript		possibly_damaging(0.746)	.	ENSP00000263409		CCDS3927.1			1	
OTOGL	0	LGGM	GRCh37	12	80726847	80726847	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	29	15	.	.	ENST00000458043.2:c.4384T>A	p.Leu1462Met	p.L1462M	ENST00000458043	NM_173591.3	1462	Ttg/Atg	0	1		UPI00020CE39B	0	NA	ENST00000547103		ENSG00000165899	26901		44	0.69		HGNC	p.L1450M		OTOGL		SNV			1				ENST00000547103	protein_coding	getma.org/?cm=var&var=hg19,12,80726847,T,A&fts=all		hmmpanther:PTHR11339:SF225,hmmpanther:PTHR11339		L/M		A	neutral	4354/8032		getma.org/?cm=msa&ty=f&p=F8W0C3_HUMAN&rb=1401&re=1600&var=L1450M	tolerated(0.12)	E2QRK2_HUMAN				OTOGL,missense_variant,p.Leu1462Met,ENST00000458043,NM_173591.3;OTOGL,missense_variant,p.Leu1450Met,ENST00000547103,;OTOGL,upstream_gene_variant,,ENST00000298820,;							MODERATE	4348/6999	L1450M	OTOGL_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000447211					1	
TMEM41B	0	LGGM	GRCh37	11	9321242	9321242	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	21	16	.	.	ENST00000528080.1:c.128C>T	p.Ser43Phe	p.S43F	ENST00000528080	NM_015012.3	43	tCc/tTc	0	1		UPI00001C1EF6	0	NA	ENST00000299596		ENSG00000166471	28948		37	0		HGNC	p.S43F	rs546124559	TMEM41B		SNV							ENST00000524543	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,11,9321242,G,A&fts=all	A:0	hmmpanther:PTHR12677,hmmpanther:PTHR12677:SF15		S/F		A	neutral	254/1443		getma.org/?cm=msa&ty=f&p=TM41B_HUMAN&rb=1&re=128&var=S43F	deleterious(0.02)		A:0	A:0.001		TMEM41B,missense_variant,p.Ser43Phe,ENST00000528080,NM_015012.3;TMEM41B,missense_variant,p.Ser43Phe,ENST00000527813,;TMEM41B,missense_variant,p.Ser43Phe,ENST00000533723,NM_001165030.2;TMEM41B,missense_variant,p.Ser43Phe,ENST00000524543,;TMEM41B,missense_variant,p.Ser43Phe,ENST00000299596,;	0.000116	A:0.0002					MODERATE	128/876	S43F	TM41B_HUMAN		A:0	Transcript		benign(0.025)	.	ENSP00000299596	8.24E-06	CCDS31424.1		A:0	1	
SCN1A	0	LGGM	GRCh37	2	166897774	166897774	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	13	17	.	.	ENST00000303395.4:c.2382C>T	p.Asp794=	p.D794=	ENST00000303395		794	gaC/gaT	0	1	1	UPI000003C71D	0		ENST00000303395		ENSG00000144285	10585		30			HGNC	p.D766D		SCN1A		SNV			1				ENST00000409050	protein_coding			Gene3D:1.20.120.350,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133,Superfamily_domains:SSF81324		D		A		2382/8112				F8T7W7_HUMAN			YES	SCN1A,synonymous_variant,p.=,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,synonymous_variant,p.=,ENST00000303395,;SCN1A,synonymous_variant,p.=,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,synonymous_variant,p.=,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000599041,;AC010127.3,intron_variant,,ENST00000595268,;AC010127.3,downstream_gene_variant,,ENST00000597623,;							LOW	2382/6030		SCN1A_HUMAN			Transcript			.	ENSP00000303540		CCDS54413.1			1	
DST	0	LGGM	GRCh37	6	56506766	56506766	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	17	17	.	.	ENST00000244364.6:c.395A>C	p.Gln132Pro	p.Q132P	ENST00000244364	NM_015548.4	132	cAg/cCg	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		34	2.14		HGNC	p.Q458P		DST		SNV			1				ENST00000312431	protein_coding	getma.org/?cm=var&var=hg19,6,56506766,T,G&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38		Q/P		G	medium	603/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=456&re=655&var=Q458P		Q86T18_HUMAN			YES	DST,missense_variant,p.Gln636Pro,ENST00000370754,;DST,missense_variant,p.Gln458Pro,ENST00000370769,;DST,missense_variant,p.Gln458Pro,ENST00000312431,;DST,missense_variant,p.Gln132Pro,ENST00000446842,;DST,missense_variant,p.Gln458Pro,ENST00000361203,;DST,missense_variant,p.Gln458Pro,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Gln458Pro,ENST00000421834,;DST,missense_variant,p.Gln132Pro,ENST00000244364,NM_015548.4;DST,missense_variant,p.Gln132Pro,ENST00000439203,;DST,missense_variant,p.Gln132Pro,ENST00000370765,NM_001723.5;DST,missense_variant,p.Gln498Pro,ENST00000520645,;DST,missense_variant,p.Gln132Pro,ENST00000518935,;DST,missense_variant,p.Gln636Pro,ENST00000449297,;DST,non_coding_transcript_exon_variant,,ENST00000521104,;DST,non_coding_transcript_exon_variant,,ENST00000523967,;DST,downstream_gene_variant,,ENST00000518828,;							MODERATE	395/15516	Q458P	DYST_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000244364		CCDS47443.1			1	
APOB	0	LGGM	GRCh37	2	21224663	21224663	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	30	18	.	.	ENST00000233242.1:c.13631C>T	p.Ser4544Leu	p.S4544L	ENST00000233242	NM_000384.2	4544	tCa/tTa	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		48	0.69		HGNC	p.S4544L		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21224663,G,A&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Pfam_domain:PF12491		S/L		A	neutral	13759/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=4494&re=4551&var=S4544L		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Ser4544Leu,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;							MODERATE	13631/13692	S4544L	APOB_HUMAN			Transcript		benign(0.007)	.	ENSP00000233242		CCDS1703.1			1	
RYR2	0	LGGM	GRCh37	1	237774114	237774114	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	15	18	.	.	ENST00000366574.2:c.4736T>G	p.Val1579Gly	p.V1579G	ENST00000366574	NM_001035.2	1579	gTg/gGg	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		33	1.955		HGNC	p.V1563G		RYR2		SNV			1				ENST00000542537	protein_coding	getma.org/?cm=var&var=hg19,1,237774114,T,G&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		V/G		G	medium	5053/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1562&re=1761&var=V1579G		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Val1579Gly,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Val1563Gly,ENST00000542537,;RYR2,missense_variant,p.Val1577Gly,ENST00000360064,;							MODERATE	4736/14904	V1579G	RYR2_HUMAN			Transcript		benign(0.046)	.	ENSP00000355533		CCDS55691.1			1	
OR2D3	0	LGGM	GRCh37	11	6942416	6942416	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	24	19	.	.	ENST00000317834.3:c.184A>G	p.Ile62Val	p.I62V	ENST00000317834	NM_001004684.1	62	Atc/Gtc	0	1	1	UPI0000041C7D	0	getma.org/pdb.php?prot=OR2D3_HUMAN&from=1&to=154&var=I62V	ENST00000317834		ENSG00000178358	15146		43	1.405		HGNC	p.I62V		OR2D3		SNV							ENST00000317834	protein_coding	getma.org/?cm=var&var=hg19,11,6942416,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF136,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/V		G	low	212/1060		getma.org/?cm=msa&ty=f&p=OR2D3_HUMAN&rb=1&re=154&var=I62V	tolerated(0.21)				YES	OR2D3,missense_variant,p.Ile62Val,ENST00000317834,NM_001004684.1;							MODERATE	184/993	I62V	OR2D3_HUMAN			Transcript		benign(0.011)	.	ENSP00000320560		CCDS31417.1			1	
TRPM1	0	LGGM	GRCh37	15	31339367	31339367	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	19	19	.	.	ENST00000542188.1:c.1762T>C	p.Tyr588His	p.Y588H	ENST00000542188	NM_001252020.1	588	Tac/Cac	0	1		UPI00001FE144	0	NA	ENST00000397795		ENSG00000134160	7146		38	2.66		HGNC	p.Y571H		TRPM1		SNV			1				ENST00000256552	protein_coding	getma.org/?cm=var&var=hg19,15,31339367,A,G&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF13		Y/H		G	medium	1759/5687		getma.org/?cm=msa&ty=f&p=TRPM1_HUMAN&rb=401&re=600&var=Y549H	deleterious(0)	H0YKU7_HUMAN				TRPM1,missense_variant,p.Tyr588His,ENST00000542188,NM_001252020.1;TRPM1,missense_variant,p.Tyr549His,ENST00000397795,NM_002420.5;TRPM1,missense_variant,p.Tyr571His,ENST00000256552,NM_001252024.1;TRPM1,missense_variant,p.Tyr473His,ENST00000558768,;TRPM1,missense_variant,p.Tyr549His,ENST00000558445,;TRPM1,intron_variant,,ENST00000559177,;RP11-348B17.1,downstream_gene_variant,,ENST00000561299,;TRPM1,3_prime_UTR_variant,,ENST00000560801,;							MODERATE	1645/4812	Y549H	TRPM1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380897		CCDS10024.2			1	
ZNF658	0	LGGM	GRCh37	9	40773333	40773333	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	13	19	.	.	ENST00000602553.1:c.1942C>A	p.His648Asn	p.H648N	ENST00000602553		648	Cat/Aat	0	1	1	UPI000046D388	0	getma.org/pdb.php?prot=Z658B_HUMAN&from=404&to=429&var=H408N	ENST00000602553		ENSG00000196409	25226		32	3.545		HGNC	p.H648N		ZNF658		SNV							ENST00000377626	protein_coding	getma.org/?cm=var&var=hg19,9,40773333,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/N		T	high	2237/4155		getma.org/?cm=msa&ty=f&p=Z658B_HUMAN&rb=384&re=449&var=H408N	deleterious(0)	B3KNB1_HUMAN			YES	ZNF658,missense_variant,p.His648Asn,ENST00000602553,;ZNF658,missense_variant,p.His648Asn,ENST00000377626,NM_033160.5;ZNF658,intron_variant,,ENST00000441795,;ZNF658,intron_variant,,ENST00000479710,;							MODERATE	1942/3180	H408N	ZN658_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000473484		CCDS35023.1			1	
PRDM2	0	LGGM	GRCh37	1	14107245	14107245	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	26	20	.	.	ENST00000235372.7:c.2955G>A	p.Pro985=	p.P985=	ENST00000235372	NM_012231.4	985	ccG/ccA	0	1	1	UPI000013C9CD	0		ENST00000235372		ENSG00000116731	9347		46			HGNC	p.P784P		PRDM2		SNV							ENST00000343137	protein_coding			PIRSF_domain:PIRSF002395,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF4,Low_complexity_(Seg):seg		P		A		3811/7957				S4R3F7_HUMAN,D6RJM6_HUMAN			YES	PRDM2,synonymous_variant,p.=,ENST00000235372,NM_012231.4;PRDM2,synonymous_variant,p.=,ENST00000311066,NM_015866.4;PRDM2,synonymous_variant,p.=,ENST00000413440,NM_001007257.2;PRDM2,synonymous_variant,p.=,ENST00000343137,;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1;PRDM2,intron_variant,,ENST00000503842,;PRDM2,intron_variant,,ENST00000505823,;PRDM2,downstream_gene_variant,,ENST00000487453,;PRDM2,downstream_gene_variant,,ENST00000407521,;PRDM2,intron_variant,,ENST00000491134,;							LOW	2955/5157		PRDM2_HUMAN			Transcript			.	ENSP00000235372		CCDS150.1			1	
TCERG1L	0	LGGM	GRCh37	10	133107444	133107444	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	47	20	.	.	ENST00000368642.4:c.461G>T	p.Trp154Leu	p.W154L	ENST00000368642	NM_174937.3	154	tGg/tTg	0	1	1	UPI00004589C8	0	NA	ENST00000368642		ENSG00000176769	23533		67	0.975		HGNC	p.W154L		TCERG1L		SNV							ENST00000368642	protein_coding	getma.org/?cm=var&var=hg19,10,133107444,C,A&fts=all		hmmpanther:PTHR15377:SF5,hmmpanther:PTHR15377,PROSITE_patterns:PS01159		W/L		A	low	547/2618		getma.org/?cm=msa&ty=f&p=TCRGL_HUMAN&rb=148&re=181&var=W154L	deleterious(0)				YES	TCERG1L,missense_variant,p.Trp154Leu,ENST00000368642,NM_174937.3;							MODERATE	461/1761	W154L	TCRGL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357631		CCDS7662.2			1	
TMEM135	0	LGGM	GRCh37	11	87013477	87013477	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	32	21	.	.	ENST00000305494.5:c.691G>A	p.Asp231Asn	p.D231N	ENST00000305494	NM_022918.3	231	Gat/Aat	0	1	1	UPI00001FB0C7	0	NA	ENST00000305494		ENSG00000166575	26167		53	1.83		HGNC	p.D231N		TMEM135		SNV							ENST00000305494	protein_coding	getma.org/?cm=var&var=hg19,11,87013477,G,A&fts=all		hmmpanther:PTHR12459,hmmpanther:PTHR12459:SF4		D/N		A	low	730/2433		getma.org/?cm=msa&ty=f&p=TM135_HUMAN&rb=1&re=456&var=D231N	tolerated(0.08)	Q7Z760_HUMAN,F5H254_HUMAN,B4DKZ1_HUMAN			YES	TMEM135,missense_variant,p.Asp209Asn,ENST00000340353,NM_001168724.1;TMEM135,missense_variant,p.Asp231Asn,ENST00000305494,NM_022918.3;TMEM135,missense_variant,p.Asp92Asn,ENST00000535167,;TMEM135,missense_variant,p.Asp102Asn,ENST00000532959,;							MODERATE	691/1377	D231N	TM135_HUMAN			Transcript		benign(0.003)	.	ENSP00000306344		CCDS8280.1			1	
ERN1	0	LGGM	GRCh37	17	62126519	62126519	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	19	22	.	.	ENST00000433197.3:c.2297A>G	p.Tyr766Cys	p.Y766C	ENST00000433197	NM_001433.3	766	tAc/tGc	0	1	1	UPI0000201263	0	getma.org/pdb.php?prot=ERN1_HUMAN&from=571&to=832&var=Y766C	ENST00000433197		ENSG00000178607	3449		41	1.785		HGNC	p.Y766C		ERN1		SNV							ENST00000433197	protein_coding	getma.org/?cm=var&var=hg19,17,62126519,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR13954:SF10,hmmpanther:PTHR13954,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/C		C	low	2393/7876		getma.org/?cm=msa&ty=f&p=ERN1_HUMAN&rb=571&re=832&var=Y766C	deleterious(0)				YES	ERN1,missense_variant,p.Tyr766Cys,ENST00000433197,NM_001433.3;ERN1,downstream_gene_variant,,ENST00000583077,;							MODERATE	2297/2934	Y766C	ERN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401445		CCDS45762.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125281970	125281970	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	29	22	.	.	ENST00000431078.1:c.1415C>A	p.Pro472His	p.P472H	ENST00000431078	NM_130773.3	472	cCc/cAc	0	1	1	UPI0000071988	0	getma.org/pdb.php?prot=CNTP5_HUMAN&from=395&to=521&var=P472H	ENST00000431078		ENSG00000155052	18748		51	1.15		HGNC	p.P472H		CNTNAP5		SNV							ENST00000431078	protein_coding	getma.org/?cm=var&var=hg19,2,125281970,C,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605,Pfam_domain:PF02210,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		P/H		A	low	1779/5284		getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=395&re=521&var=P472H	deleterious(0.01)				YES	CNTNAP5,missense_variant,p.Pro472His,ENST00000431078,NM_130773.3;							MODERATE	1415/3921	P472H	CNTP5_HUMAN			Transcript		benign(0.389)	.	ENSP00000399013		CCDS46401.1			1	
KMT2C	0	LGGM	GRCh37	7	151851473	151851473	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	29	22	.	.	ENST00000262189.6:c.12018T>A	p.Ser4006=	p.S4006=	ENST00000262189	NM_170606.2	4006	tcT/tcA	0	1	1	UPI0000141B9F	0		ENST00000262189		ENSG00000055609	13726		51			HGNC	p.S4063S		KMT2C		SNV							ENST00000355193	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305		S		T		12237/16862				Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,synonymous_variant,p.=,ENST00000355193,;KMT2C,synonymous_variant,p.=,ENST00000262189,NM_170606.2;KMT2C,synonymous_variant,p.=,ENST00000360104,;KMT2C,synonymous_variant,p.=,ENST00000424877,;KMT2C,synonymous_variant,p.=,ENST00000418061,;KMT2C,non_coding_transcript_exon_variant,,ENST00000485241,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;							LOW	12018/14736		KMT2C_HUMAN			Transcript			.	ENSP00000262189		CCDS5931.1			1	
RCC2	0	LGGM	GRCh37	1	17740119	17740119	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	32	22	.	.	ENST00000375436.4:c.1121G>T	p.Arg374Leu	p.R374L	ENST00000375436	NM_018715.3	374	cGc/cTc	0	1		UPI0000074608	0	getma.org/pdb.php?prot=RCC2_HUMAN&from=349&to=399&var=R374L	ENST00000375433		ENSG00000179051	30297		54	2.67		HGNC	p.R374L		RCC2		SNV							ENST00000375433	protein_coding	getma.org/?cm=var&var=hg19,1,17740119,C,A&fts=all		PROSITE_profiles:PS50012,hmmpanther:PTHR22870,hmmpanther:PTHR22870:SF146,Pfam_domain:PF00415,Gene3D:2.130.10.30,Superfamily_domains:SSF50985		R/L		A	medium	1168/2030		getma.org/?cm=msa&ty=f&p=RCC2_HUMAN&rb=349&re=399&var=R374L	deleterious(0)					RCC2,missense_variant,p.Arg374Leu,ENST00000375436,NM_018715.3;RCC2,missense_variant,p.Arg374Leu,ENST00000375433,NM_001136204.2;AC004824.1,downstream_gene_variant,,ENST00000583469,;RCC2,upstream_gene_variant,,ENST00000474892,;							MODERATE	1121/1569	R374L	RCC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364582		CCDS181.1			1	
GABRG3	0	LGGM	GRCh37	15	27222295	27222295	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	25	23	.	.	ENST00000333743.6:c.200G>A	p.Gly67Glu	p.G67E	ENST00000333743	NM_033223.4	67	gGa/gAa	0	1	1	UPI000012AFCB	0	getma.org/pdb.php?prot=GBRG3_HUMAN&from=47&to=253&var=G67E	ENST00000333743		ENSG00000182256	4088		48	2.535		HGNC	p.G67E		GABRG3		SNV							ENST00000333743	protein_coding	getma.org/?cm=var&var=hg19,15,27222295,G,A&fts=all		hmmpanther:PTHR18945:SF195,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Pfam_domain:PF02931,Superfamily_domains:0038932,Prints_domain:PR01620		G/E		A	medium	454/2004		getma.org/?cm=msa&ty=f&p=GBRG3_HUMAN&rb=47&re=253&var=G67E	deleterious(0)				YES	GABRG3,missense_variant,p.Gly67Glu,ENST00000333743,NM_033223.4;GABRG3,missense_variant,p.Gly67Glu,ENST00000555083,NM_001270873.1;GABRG3,splice_region_variant,,ENST00000553440,;							MODERATE	200/1404	G67E	GBRG3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000331912		CCDS45195.1			1	
DEFB121	0	LGGM	GRCh37	20	29992833	29992833	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	29	23	.	.	ENST00000376314.2:c.114A>G	p.Glu38=	p.E38=	ENST00000376314	NM_001011878.2	38	gaA/gaG	0	1	1	UPI00004A06B0	0		ENST00000376314		ENSG00000204548	18101		52			HGNC	p.E38E		DEFB121		SNV							ENST00000376314	protein_coding			hmmpanther:PTHR15001:SF9,hmmpanther:PTHR15001,Pfam_domain:PF13841		E		C		228/389							YES	DEFB121,synonymous_variant,p.=,ENST00000376314,NM_001011878.2;DEFB121,non_coding_transcript_exon_variant,,ENST00000376312,;							LOW	114/231		DB121_HUMAN			Transcript			.	ENSP00000417128		CCDS33456.1			1	
TOPBP1	0	LGGM	GRCh37	3	133339148	133339148	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	32	23	.	.	ENST00000260810.5:c.3222G>A	p.Gln1074=	p.Q1074=	ENST00000260810	NM_007027.3	1074	caG/caA	0	1	1	UPI000020A292	0		ENST00000260810		ENSG00000163781	17008		55			HGNC	p.Q1074Q		TOPBP1		SNV							ENST00000260810	protein_coding			hmmpanther:PTHR13561:SF25,hmmpanther:PTHR13561		Q		T		3354/5378				A0AV47_HUMAN			YES	TOPBP1,synonymous_variant,p.=,ENST00000260810,NM_007027.3;TOPBP1,non_coding_transcript_exon_variant,,ENST00000513818,;TOPBP1,upstream_gene_variant,,ENST00000505804,;							LOW	3222/4569		TOPB1_HUMAN			Transcript			.	ENSP00000260810		CCDS46919.1			1	
AUTS2	0	LGGM	GRCh37	7	70227889	70227889	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	38	25	.	.	ENST00000342771.4:c.776A>G	p.His259Arg	p.H259R	ENST00000342771	NM_015570.2	259	cAt/cGt	0	1	1	UPI0000126665	0	NA	ENST00000342771		ENSG00000158321	14262		63	-0.55		HGNC	p.H259R		AUTS2		SNV			1				ENST00000342771	protein_coding	getma.org/?cm=var&var=hg19,7,70227889,A,G&fts=all		hmmpanther:PTHR14429,hmmpanther:PTHR14429:SF5		H/R		G	neutral	1097/6173		getma.org/?cm=msa&ty=f&p=AUTS2_HUMAN&rb=1&re=1257&var=H259R	tolerated(0.37)	Q75MQ7_HUMAN,Q75MQ4_HUMAN,Q75MQ3_HUMAN,Q75MD7_HUMAN			YES	AUTS2,missense_variant,p.His259Arg,ENST00000342771,NM_015570.2;AUTS2,missense_variant,p.His259Arg,ENST00000406775,NM_001127231.1;AUTS2,missense_variant,p.His40Arg,ENST00000416482,;AUTS2,upstream_gene_variant,,ENST00000443672,;AUTS2,upstream_gene_variant,,ENST00000481994,;							MODERATE	776/3780	H259R	AUTS2_HUMAN			Transcript		benign(0.001)	.	ENSP00000344087		CCDS5539.1			1	
WDR72	0	LGGM	GRCh37	15	53997185	53997185	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	18	25	.	.	ENST00000396328.1:c.1348G>A	p.Asp450Asn	p.D450N	ENST00000396328	NM_182758.3	450	Gat/Aat	0	1		UPI00001D777D	0	NA	ENST00000360509		ENSG00000166415	26790		43	1.39		HGNC	p.D450N		WDR72		SNV			1				ENST00000560036	protein_coding	getma.org/?cm=var&var=hg19,15,53997185,C,T&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR12816,hmmpanther:PTHR12816:SF18,SMART_domains:SM00320		D/N		T	low	1390/5887		getma.org/?cm=msa&ty=f&p=WDR72_HUMAN&rb=294&re=450&var=D450N	tolerated(0.57)	H0YN02_HUMAN				WDR72,missense_variant,p.Asp450Asn,ENST00000396328,NM_182758.3,NM_001277176.1;WDR72,missense_variant,p.Asp447Asn,ENST00000557913,;WDR72,missense_variant,p.Asp450Asn,ENST00000360509,;WDR72,missense_variant,p.Asp460Asn,ENST00000559418,;WDR72,missense_variant,p.Asp450Asn,ENST00000560036,;							MODERATE	1348/3309	D450N	WDR72_HUMAN			Transcript		benign(0.423)	.	ENSP00000353699		CCDS10151.1			1	
SREBF2	0	LGGM	GRCh37	22	42290822	42290822	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	55	26	.	.	ENST00000361204.4:c.2378-2A>T		p.X793_splice	ENST00000361204	NM_004599.3			0	1	1	UPI00001678D0	0		ENST00000361204		ENSG00000198911	11290		81			HGNC	-		SREBF2		SNV							ENST00000361204	protein_coding							T		-/5240				Q8NCY3_HUMAN			YES	SREBF2,splice_acceptor_variant,,ENST00000361204,NM_004599.3;SREBF2,upstream_gene_variant,,ENST00000435061,;SREBF2,splice_acceptor_variant,,ENST00000491541,;SREBF2,splice_acceptor_variant,,ENST00000424354,;SREBF2,upstream_gene_variant,,ENST00000463741,;							HIGH	2378/3426		SRBP2_HUMAN			Transcript			.	ENSP00000354476		CCDS14023.1			1	
PHLDB2	0	LGGM	GRCh37	3	111602909	111602909	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	45	26	.	.	ENST00000431670.2:c.-14-2A>G		p.X5_splice	ENST00000431670	NM_001134438.1			0	1		UPI0000457152	0		ENST00000393925		ENSG00000144824	29573		71			HGNC	-	rs745464478	PHLDB2		SNV							ENST00000393923	protein_coding							G		-/5543	1.54E-05			Q8NEI7_HUMAN,Q659D2_HUMAN				PHLDB2,splice_acceptor_variant,,ENST00000431670,NM_001134438.1;PHLDB2,splice_acceptor_variant,,ENST00000412622,NM_145753.2;PHLDB2,splice_acceptor_variant,,ENST00000477695,;PHLDB2,splice_acceptor_variant,,ENST00000393923,NM_001134437.1;PHLDB2,splice_acceptor_variant,,ENST00000393925,NM_001134439.1;PHLDB2,splice_acceptor_variant,,ENST00000498699,;PHLDB2,splice_acceptor_variant,,ENST00000478922,;PHLDB2,5_prime_UTR_variant,,ENST00000481953,;							HIGH	-/3762		PHLB2_HUMAN			Transcript			.	ENSP00000377502	8.24E-06	CCDS46886.1			1	
HMCN1	0	LGGM	GRCh37	1	186099181	186099181	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110773	H110773N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	17	28	.	.	ENST00000271588.4:c.12988G>C	p.Ala4330Pro	p.A4330P	ENST00000271588	NM_031935.2	4330	Gca/Cca	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4260&to=4345&var=A4330P	ENST00000271588		ENSG00000143341	19194		45	4.36		HGNC	p.A4330P		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186099181,G,C&fts=all		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		A/P		C	high	13217/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4260&re=4345&var=A4330P					YES	HMCN1,missense_variant,p.Ala4330Pro,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Ala4330Pro,ENST00000367492,;							MODERATE	12988/16908	A4330P	HMCN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000271588		CCDS30956.1			1	
UGT2B4	0	LGGM	GRCh37	4	70361486	70361486	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	60	31	.	.	ENST00000305107.6:c.94G>T	p.Glu32Ter	p.E32*	ENST00000305107	NM_021139.2	32	Gaa/Taa	0	1	1	UPI000000087F	0	NA	ENST00000305107		ENSG00000156096	12553		91	0		HGNC	p.E32X		UGT2B4		SNV							ENST00000512583	protein_coding	getma.org/?cm=var&var=hg19,4,70361486,C,A&fts=all		Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF123,Superfamily_domains:SSF53756		E/*		A	NA	141/2103		NA		D6RGY0_HUMAN			YES	UGT2B4,stop_gained,p.Glu32Ter,ENST00000305107,NM_021139.2;UGT2B4,stop_gained,p.Glu32Ter,ENST00000512583,;UGT2B4,stop_gained,p.Glu32Ter,ENST00000510114,;UGT2B4,intron_variant,,ENST00000381096,;UGT2B4,non_coding_transcript_exon_variant,,ENST00000506580,;UGT2B4,intron_variant,,ENST00000502655,;UGT2B4,intron_variant,,ENST00000503836,;							HIGH	94/1587	E32*	UD2B4_HUMAN			Transcript			.	ENSP00000305221		CCDS43234.1			1	
PHF10	0	LGGM	GRCh37	6	170118884	170118884	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	9	32	.	.	ENST00000339209.4:c.325G>T	p.Asp109Tyr	p.D109Y	ENST00000339209	NM_133325.2	109	Gat/Tat	0	1	1	UPI0000EE1F6E	0	NA	ENST00000339209		ENSG00000130024	18250		41	2.415		HGNC	p.E109X		PHF10		SNV							ENST00000366780	protein_coding	getma.org/?cm=var&var=hg19,6,170118884,C,A&fts=all		hmmpanther:PTHR10615		D/Y		A	medium	449/1719		getma.org/?cm=msa&ty=f&p=PHF10_HUMAN&rb=15&re=368&var=D109Y	deleterious(0)	S5FMB0_HUMAN			YES	PHF10,stop_gained,p.Glu109Ter,ENST00000366780,;PHF10,missense_variant,p.Asp109Tyr,ENST00000339209,NM_133325.2,NM_018288.3;PHF10,splice_region_variant,,ENST00000464779,;PHF10,splice_region_variant,,ENST00000480008,;							MODERATE	325/1497	D109Y	PHF10_HUMAN			Transcript		possibly_damaging(0.553)	.	ENSP00000341805		CCDS5308.2			1	
CHD9	0	LGGM	GRCh37	16	53325665	53325665	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110773	H110773N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	46	35	.	.	ENST00000566029.1:c.5276T>C	p.Val1759Ala	p.V1759A	ENST00000566029		1759	gTt/gCt	0	1		UPI0000E02AC8	0	NA	ENST00000398510		ENSG00000177200	25701		81	0.975		HGNC	p.V1759A		CHD9		SNV							ENST00000564845	protein_coding	getma.org/?cm=var&var=hg19,16,53325665,T,C&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF48		V/A		C	low	5363/11337		getma.org/?cm=msa&ty=f&p=CHD9_HUMAN&rb=1697&re=1896&var=V1759A		H3BV31_HUMAN,H3BSP3_HUMAN,H3BRU9_HUMAN				CHD9,missense_variant,p.Val1759Ala,ENST00000566029,;CHD9,missense_variant,p.Val1759Ala,ENST00000564845,;CHD9,missense_variant,p.Val1759Ala,ENST00000447540,NM_025134.4;CHD9,missense_variant,p.Val1759Ala,ENST00000398510,;CHD9,non_coding_transcript_exon_variant,,ENST00000219084,;							MODERATE	5276/8694	V1759A	CHD9_HUMAN			Transcript		benign(0.155)	.	ENSP00000381522					1	
NSMCE2	0	LGGM	GRCh37	8	126163456	126163456	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	28	45	.	.	ENST00000287437.3:c.201A>C	p.Glu67Asp	p.E67D	ENST00000287437	NM_173685.2	67	gaA/gaC	0	1	1	UPI0000039EC8	0	NA	ENST00000287437		ENSG00000156831	26513		73	1.7		HGNC	p.E7D		NSMCE2		SNV							ENST00000517315	protein_coding	getma.org/?cm=var&var=hg19,8,126163456,A,C&fts=all		hmmpanther:PTHR21330		E/D		C	low	417/1195		getma.org/?cm=msa&ty=f&p=NSE2_HUMAN&rb=1&re=155&var=E67D	deleterious(0.04)	E5RK09_HUMAN,E5RIM1_HUMAN,E5RHW9_HUMAN,E5RFJ1_HUMAN			YES	NSMCE2,missense_variant,p.Glu67Asp,ENST00000287437,NM_173685.2;NSMCE2,missense_variant,p.Glu67Asp,ENST00000522563,;NSMCE2,missense_variant,p.Glu7Asp,ENST00000517315,;NSMCE2,missense_variant,p.Glu67Asp,ENST00000517532,;NSMCE2,missense_variant,p.Glu67Asp,ENST00000523741,;NSMCE2,missense_variant,p.Glu58Asp,ENST00000519712,;NSMCE2,3_prime_UTR_variant,,ENST00000518146,;NSMCE2,non_coding_transcript_exon_variant,,ENST00000519010,;NSMCE2,non_coding_transcript_exon_variant,,ENST00000520866,;NSMCE2,non_coding_transcript_exon_variant,,ENST00000523824,;NSMCE2,non_coding_transcript_exon_variant,,ENST00000523549,;							MODERATE	201/744	E67D	NSE2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000287437		CCDS6356.1			1	
SNTB2	0	LGGM	GRCh37	16	69279590	69279590	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H110773	H110773N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	71	60	.	.	ENST00000336278.4:c.666A>T	p.Ser222=	p.S222=	ENST00000336278	NM_006750.3	222	tcA/tcT	0	1	1	UPI0000135B21	0		ENST00000336278		ENSG00000168807	11169		131			HGNC	p.S222S		SNTB2		SNV							ENST00000467311	protein_coding			hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF8,Low_complexity_(Seg):seg,SMART_domains:SM00233,Superfamily_domains:SSF50729		S		T		704/9789							YES	SNTB2,synonymous_variant,p.=,ENST00000336278,NM_006750.3;SNTB2,synonymous_variant,p.=,ENST00000525632,;SNTB2,synonymous_variant,p.=,ENST00000360496,;RP11-70O5.2,downstream_gene_variant,,ENST00000562422,;SNTB2,non_coding_transcript_exon_variant,,ENST00000528525,;SNTB2,synonymous_variant,p.=,ENST00000467311,;SNTB2,3_prime_UTR_variant,,ENST00000524887,;							LOW	666/1623		SNTB2_HUMAN			Transcript			.	ENSP00000338191		CCDS10873.1			1	
SART3	0	LGGM	GRCh37	12	108938933	108938933	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110773	H110773N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110773N.bam, H110773T.bam	Illumina HiSeq	80	61	.	.	ENST00000228284.3:c.711G>T	p.Ala237=	p.A237=	ENST00000228284	NM_014706.3	237	gcG/gcT	0	1	1	UPI000006D72B	0		ENST00000228284		ENSG00000075856	16860		141			HGNC	p.A237A		SART3		SNV			1				ENST00000546815	protein_coding			hmmpanther:PTHR23269,hmmpanther:PTHR23269:SF0,SMART_domains:SM00386,Superfamily_domains:SSF48452		A		A		946/4004				H0YHU8_HUMAN,F8VZM2_HUMAN,F8VVK9_HUMAN			YES	SART3,synonymous_variant,p.=,ENST00000228284,NM_014706.3;SART3,synonymous_variant,p.=,ENST00000431469,;SART3,synonymous_variant,p.=,ENST00000546815,;SART3,synonymous_variant,p.=,ENST00000550322,;SART3,synonymous_variant,p.=,ENST00000550619,;SART3,downstream_gene_variant,,ENST00000552221,;SART3,synonymous_variant,p.=,ENST00000546728,;SART3,synonymous_variant,p.=,ENST00000547528,;SART3,upstream_gene_variant,,ENST00000551416,;							LOW	711/2892		SART3_HUMAN			Transcript			.	ENSP00000228284		CCDS9117.1			1	
SLC45A3	0	LGGM	GRCh37	1	205632218	205632253	+	inframe_deletion	In_Frame_Del	DEL	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC	-	novel	by Submitter	H110795	H110795N.bam	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC	GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	4	2	.	.	ENST00000367145.3:c.666_701del	p.Leu223_Ala234del	p.L223_A234del	ENST00000367145	NM_033102.2	222	gcGCTGGGCCCCACCGAGCCAGCAGAAGGGCTGTCGGCc/gcc	0	1	1	UPI0000039836	0		ENST00000367145		ENSG00000158715	8642	0.116	6			HGNC	p.222_234del	rs72434280,COSM111686	SLC45A3	0.00234	deletion				0.00197		0,1	ENST00000367145	protein_coding		-:0.0023	Low_complexity_(Seg):seg,hmmpanther:PTHR19432:SF29,hmmpanther:PTHR19432,Pfam_domain:PF07690,Superfamily_domains:SSF103473		ALGPTEPAEGLSA/A		-		962-997/3341	0.00433			Q658X7_HUMAN,A8K2U9_HUMAN	-:0.0937	-:0.0903	YES	SLC45A3,inframe_deletion,p.Leu223_Ala234del,ENST00000367145,NM_033102.2;SLC45A3,upstream_gene_variant,,ENST00000460934,;	0.0914	-:0.0343			0,1		MODERATE	666-701/1662		S45A3_HUMAN	0.0133	-:0.008	Transcript			common_variant	ENSP00000356113	0.0206	CCDS1458.1	0.0163	-:0.0051	1	
DDX4	0	LGGM	GRCh37	5	55112308	55112308	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	6	2	.	.	ENST00000505374.1:c.2115C>A	p.Asn705Lys	p.N705K	ENST00000505374	NM_024415.2	705	aaC/aaA	0	1	1	UPI00001290D3	0	NA	ENST00000505374		ENSG00000152670	18700		8	0.895		HGNC	p.N671K		DDX4		SNV							ENST00000353507	protein_coding	getma.org/?cm=var&var=hg19,5,55112308,C,A&fts=all				N/K		A	low	2207/2884		getma.org/?cm=msa&ty=f&p=DDX4_HUMAN&rb=636&re=724&var=N705K	tolerated(0.08)	D6RBL3_HUMAN,D6RAF5_HUMAN			YES	DDX4,missense_variant,p.Asn705Lys,ENST00000505374,NM_024415.2;DDX4,missense_variant,p.Asn671Lys,ENST00000353507,NM_001142549.1;DDX4,missense_variant,p.Asn685Lys,ENST00000514278,NM_001166533.1;DDX4,missense_variant,p.Asn671Lys,ENST00000354991,;DDX4,missense_variant,p.Asn556Lys,ENST00000511853,NM_001166534.1;DDX4,downstream_gene_variant,,ENST00000503129,;							MODERATE	2115/2175	N705K	DDX4_HUMAN			Transcript		benign(0.184)	.	ENSP00000424838		CCDS3969.1			1	
NPHP1	0	LGGM	GRCh37	2	110881641	110881641	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	26	3	.	.	ENST00000316534.4:c.1930-1G>T		p.X644_splice	ENST00000316534				0	1		UPI00001303E4	0		ENST00000393272		ENSG00000144061	7905		29			HGNC	-		NPHP1		SNV			1				ENST00000316534	protein_coding							A		-/2752								NPHP1,splice_acceptor_variant,,ENST00000316534,;NPHP1,splice_acceptor_variant,,ENST00000393272,NM_207181.2,NM_000272.3;NPHP1,splice_acceptor_variant,,ENST00000445609,NM_001128178.1;NPHP1,splice_acceptor_variant,,ENST00000417665,;NPHP1,splice_acceptor_variant,,ENST00000355301,NM_001128179.1;NPHP1,downstream_gene_variant,,ENST00000422492,;AC013268.1,downstream_gene_variant,,ENST00000390802,;NPHP1,splice_acceptor_variant,,ENST00000461707,;NPHP1,non_coding_transcript_exon_variant,,ENST00000496524,;NPHP1,downstream_gene_variant,,ENST00000493051,;							HIGH	1927/2199		NPHP1_HUMAN			Transcript			.	ENSP00000376953		CCDS46385.1			1	
C11orf80	0	LGGM	GRCh37	11	66610450	66610450	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	4	3	.	.	ENST00000360962.4:c.1878G>T	p.Ala626=	p.A626=	ENST00000360962	NM_024650.3	626	gcG/gcT	0	1	1	UPI0001711D28	0		ENST00000360962		ENSG00000173715	26197		7			HGNC	p.A435A		C11orf80		SNV							ENST00000525449	protein_coding			Pfam_domain:PF15091,hmmpanther:PTHR14652,Low_complexity_(Seg):seg		A		T		1885/2323				E9PIE7_HUMAN			YES	C11orf80,missense_variant,p.Gly206Cys,ENST00000531415,;C11orf80,synonymous_variant,p.=,ENST00000360962,NM_024650.3;C11orf80,synonymous_variant,p.=,ENST00000346672,;C11orf80,synonymous_variant,p.=,ENST00000532565,;C11orf80,synonymous_variant,p.=,ENST00000525449,;C11orf80,synonymous_variant,p.=,ENST00000540737,;C11orf80,synonymous_variant,p.=,ENST00000527634,;RCE1,upstream_gene_variant,,ENST00000309657,NM_005133.2,NM_001032279.1;RCE1,upstream_gene_variant,,ENST00000524506,;RCE1,upstream_gene_variant,,ENST00000525356,;RCE1,upstream_gene_variant,,ENST00000534645,;C11orf80,3_prime_UTR_variant,,ENST00000532727,;RCE1,non_coding_transcript_exon_variant,,ENST00000533277,;RCE1,upstream_gene_variant,,ENST00000524849,;RCE1,upstream_gene_variant,,ENST00000532775,;RCE1,upstream_gene_variant,,ENST00000530610,;RCE1,upstream_gene_variant,,ENST00000534822,;							LOW	1878/2034		CK080_HUMAN			Transcript			.	ENSP00000354227		CCDS53664.1			1	
PRMT2	0	LGGM	GRCh37	21	48069659	48069659	+	splice_region_variant,intron_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	5	3	.	.	ENST00000397637.1:c.654+8C>T		p.X218_splice	ENST00000397637				0	1		UPI0000125B21	0		ENST00000355680		ENSG00000160310	5186		8			HGNC	p.A221V	rs377289558	PRMT2		SNV	T:0.0002			0.000253			ENST00000397628	protein_coding						T:0	T		-/2688	4.07E-05			Q5U7D4_HUMAN				PRMT2,missense_variant,p.Ala221Val,ENST00000397628,;PRMT2,splice_region_variant,,ENST00000397637,;PRMT2,splice_region_variant,,ENST00000355680,NM_206962.2;PRMT2,splice_region_variant,,ENST00000397638,NM_001535.3;PRMT2,splice_region_variant,,ENST00000440086,NM_001242864.1;PRMT2,splice_region_variant,,ENST00000451211,NM_001286677.1;PRMT2,splice_region_variant,,ENST00000458387,NM_001286676.1;PRMT2,splice_region_variant,,ENST00000291705,NM_001286678.1;PRMT2,splice_region_variant,,ENST00000334494,NM_001242865.1;PRMT2,splice_region_variant,,ENST00000455177,;PRMT2,non_coding_transcript_exon_variant,,ENST00000491389,;PRMT2,non_coding_transcript_exon_variant,,ENST00000498151,;PRMT2,splice_region_variant,,ENST00000482508,;PRMT2,splice_region_variant,,ENST00000481861,;DSTNP1,downstream_gene_variant,,ENST00000419906,;							LOW	-/1302		ANM2_HUMAN			Transcript			.	ENSP00000347906	3.30E-05	CCDS13737.1			1	
CRYBB3	0	LGGM	GRCh37	22	25601264	25601264	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	15	3	.	.	ENST00000215855.2:c.405C>A	p.Asp135Glu	p.D135E	ENST00000215855	NM_004076.4	135	gaC/gaA	0	1	1	UPI000013C6A0	0	getma.org/pdb.php?prot=CRBB3_HUMAN&from=115&to=197&var=D135E	ENST00000215855		ENSG00000100053	2400		18	1.925		HGNC	p.D135E		CRYBB3		SNV			1				ENST00000215855	protein_coding	getma.org/?cm=var&var=hg19,22,25601264,C,A&fts=all		PROSITE_profiles:PS50915,hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF13,Gene3D:2.60.20.10,Pfam_domain:PF00030,SMART_domains:SM00247,Superfamily_domains:SSF49695,Prints_domain:PR01367		D/E		A	medium	485/867		getma.org/?cm=msa&ty=f&p=CRBB3_HUMAN&rb=115&re=197&var=D135E	deleterious(0.03)				YES	CRYBB3,missense_variant,p.Asp135Glu,ENST00000215855,NM_004076.4;CRYBB3,intron_variant,,ENST00000404334,;							MODERATE	405/636	D135E	CRBB3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000215855		CCDS13830.1			1	
STOM	0	LGGM	GRCh37	9	124115543	124115543	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	13	3	.	.	ENST00000286713.2:c.276C>T	p.Ile92=	p.I92=	ENST00000286713	NM_004099.5	92	atC/atT	0	1	1	UPI000013DE61	0		ENST00000286713		ENSG00000148175	3383		16			HGNC	p.I92I		STOM		SNV							ENST00000286713	protein_coding			Superfamily_domains:0050593,Pfam_domain:PF01145,hmmpanther:PTHR10264,hmmpanther:PTHR10264:SF49,SMART_domains:SM00244		I		A		294/3010				B4E2V5_HUMAN			YES	STOM,synonymous_variant,p.=,ENST00000286713,NM_004099.5,NM_001270526.1;STOM,synonymous_variant,p.=,ENST00000538954,;STOM,intron_variant,,ENST00000347359,NM_198194.2;							LOW	276/867		STOM_HUMAN			Transcript			.	ENSP00000286713		CCDS6830.1			1	
FAM65A	0	LGGM	GRCh37	16	67579910	67579910	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	26	3	.	.	ENST00000422602.2:c.3506G>A	p.Gly1169Asp	p.G1169D	ENST00000422602	NM_001193523.1	1169	gGc/gAc	0	1		UPI00001C0EC9	0	getma.org/pdb.php?prot=FA65A_HUMAN&from=1135&to=1208&var=G1153D	ENST00000379312		ENSG00000039523	25836		29	1.845		HGNC	p.G1169D		FAM65A		SNV							ENST00000422602	protein_coding	getma.org/?cm=var&var=hg19,16,67579910,G,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF13646,hmmpanther:PTHR15829,hmmpanther:PTHR15829:SF1,Superfamily_domains:SSF48371		G/D		A	low	3579/4116		getma.org/?cm=msa&ty=f&p=FA65A_HUMAN&rb=1135&re=1208&var=G1153D	deleterious(0)					FAM65A,missense_variant,p.Gly1168Asp,ENST00000540839,;FAM65A,missense_variant,p.Gly1163Asp,ENST00000428437,NM_001193524.1;FAM65A,missense_variant,p.Gly1153Asp,ENST00000379312,NM_001193522.1,NM_024519.3;FAM65A,missense_variant,p.Gly1149Asp,ENST00000042381,;FAM65A,missense_variant,p.Gly1169Asp,ENST00000422602,NM_001193523.1;FAM65A,downstream_gene_variant,,ENST00000566559,;FAM65A,downstream_gene_variant,,ENST00000569253,;FAM65A,downstream_gene_variant,,ENST00000568959,;FAM65A,downstream_gene_variant,,ENST00000569179,;CTD-2012K14.6,downstream_gene_variant,,ENST00000605277,;CTD-2012K14.6,downstream_gene_variant,,ENST00000565929,;CTD-2012K14.3,upstream_gene_variant,,ENST00000563083,;CTD-2012K14.4,upstream_gene_variant,,ENST00000564717,;FAM65A,non_coding_transcript_exon_variant,,ENST00000569733,;FAM65A,non_coding_transcript_exon_variant,,ENST00000565190,;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,downstream_gene_variant,,ENST00000565679,;							MODERATE	3458/3672	G1153D	FA65A_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000368614		CCDS54028.1			1	
RYR3	0	LGGM	GRCh37	15	34049744	34049744	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	30	3	.	.	ENST00000389232.4:c.8652G>T	p.Lys2884Asn	p.K2884N	ENST00000389232	NM_001036.3	2884	aaG/aaT	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		33	1.525		HGNC	p.K2884N		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,34049744,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		K/N		T	low	8722/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2804&re=3003&var=K2884N					YES	RYR3,missense_variant,p.Lys2884Asn,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Lys2884Asn,ENST00000415757,NM_001243996.1;							MODERATE	8652/14613	K2884N	RYR3_HUMAN			Transcript		benign(0.015)	.	ENSP00000373884		CCDS45210.1			1	
ABL1	0	LGGM	GRCh37	9	133760582	133760582	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	40	3	.	.	ENST00000318560.5:c.2905G>A	p.Ala969Thr	p.A969T	ENST00000318560	NM_005157.4	969	Gcc/Acc	0	1		UPI000013D6D4	0	NA	ENST00000318560		ENSG00000097007	76		43	-0.35		HGNC	p.A988T	rs775585843,COSM3329299,COSM3329298,COSM3329297	ABL1		SNV			1	0.000101		0,1,1,1	ENST00000372348	protein_coding	getma.org/?cm=var&var=hg19,9,133760582,G,A&fts=all		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87		A/T		A	neutral	3286/5766		getma.org/?cm=msa&ty=f&p=ABL1_HUMAN&rb=953&re=1130&var=A969T	tolerated_low_confidence(0.36)					ABL1,missense_variant,p.Ala969Thr,ENST00000318560,NM_005157.4;ABL1,missense_variant,p.Ala988Thr,ENST00000372348,NM_007313.2;					0,1,1,1		MODERATE	2905/3393	A969T	ABL1_HUMAN			Transcript		benign(0.006)	.	ENSP00000323315	8.24E-06	CCDS35166.1			1	
CPSF3	0	LGGM	GRCh37	2	9613132	9613132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	5	3	.	.	ENST00000238112.3:c.2041A>G	p.Thr681Ala	p.T681A	ENST00000238112	NM_016207.3	681	Acg/Gcg	0	1	1	UPI00001282F5	0	NA	ENST00000238112		ENSG00000119203	2326		8	0.46		HGNC	p.T644A		CPSF3		SNV							ENST00000460593	protein_coding	getma.org/?cm=var&var=hg19,2,9613132,A,G&fts=all		Pfam_domain:PF11718,SMART_domains:SM01098		T/A		G	neutral	2247/2345		getma.org/?cm=msa&ty=f&p=CPSF3_HUMAN&rb=477&re=683&var=T681A	tolerated(0.72)	G5E9W3_HUMAN,C9JZH6_HUMAN			YES	CPSF3,missense_variant,p.Thr644Ala,ENST00000460593,;CPSF3,missense_variant,p.Thr681Ala,ENST00000238112,NM_016207.3;IAH1,upstream_gene_variant,,ENST00000470914,;IAH1,upstream_gene_variant,,ENST00000497473,NM_001039613.1;IAH1,upstream_gene_variant,,ENST00000481367,;IAH1,upstream_gene_variant,,ENST00000545602,;IAH1,upstream_gene_variant,,ENST00000481688,;IAH1,upstream_gene_variant,,ENST00000482918,;IAH1,upstream_gene_variant,,ENST00000496603,;IAH1,upstream_gene_variant,,ENST00000495797,;CPSF3,non_coding_transcript_exon_variant,,ENST00000489403,;IAH1,upstream_gene_variant,,ENST00000489468,;IAH1,upstream_gene_variant,,ENST00000495494,;IAH1,upstream_gene_variant,,ENST00000495050,;IAH1,upstream_gene_variant,,ENST00000351760,;IAH1,upstream_gene_variant,,ENST00000492223,;							MODERATE	2041/2055	T681A	CPSF3_HUMAN			Transcript		benign(0.001)	.	ENSP00000238112		CCDS1664.1			1	
SRSF6	0	LGGM	GRCh37	20	42088823	42088823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	43	3	.	.	ENST00000244020.3:c.532C>A	p.Leu178Ile	p.L178I	ENST00000244020	NM_006275.5	178	Ctt/Att	0	1	1	UPI00001358C1	0	getma.org/pdb.php?prot=SRSF6_HUMAN&from=110&to=183&var=L178I	ENST00000244020		ENSG00000124193	10788		46	1.89		HGNC	p.L178I		SRSF6		SNV							ENST00000244020	protein_coding	getma.org/?cm=var&var=hg19,20,42088823,C,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR10548,hmmpanther:PTHR10548:SF7,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		L/I		A	low	638/3683		getma.org/?cm=msa&ty=f&p=SRSF6_HUMAN&rb=110&re=183&var=L178I	deleterious(0.02)				YES	SRSF6,missense_variant,p.Leu178Ile,ENST00000244020,NM_006275.5;SRSF6,3_prime_UTR_variant,,ENST00000483871,;							MODERATE	532/1035	L178I	SRSF6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000244020		CCDS13318.1			1	
CDC45	0	LGGM	GRCh37	22	19481848	19481848	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	8	4	.	.	ENST00000437685.2:c.487-2A>G		p.X163_splice	ENST00000437685	NM_001178010.2			0	1		UPI0000000C75	0		ENST00000263201		ENSG00000093009	1739		12			HGNC	-		CDC45		SNV							ENST00000407835	protein_coding							G		-/1909				C9K087_HUMAN				CDC45,splice_acceptor_variant,,ENST00000407835,;CDC45,splice_acceptor_variant,,ENST00000437685,NM_001178010.2;CDC45,splice_acceptor_variant,,ENST00000263201,NM_003504.4;CDC45,splice_acceptor_variant,,ENST00000404724,NM_001178011.2;CDC45,splice_acceptor_variant,,ENST00000438587,;CDC45,splice_acceptor_variant,,ENST00000483431,;CDC45,splice_acceptor_variant,,ENST00000487669,;CDC45,splice_acceptor_variant,,ENST00000428937,;							HIGH	487/1701		CDC45_HUMAN			Transcript			.	ENSP00000263201		CCDS13762.1			1	
GPLD1	0	LGGM	GRCh37	6	24473860	24473860	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	14	4	.	.	ENST00000230036.1:c.477G>A	p.Ser159=	p.S159=	ENST00000230036	NM_001503.3	159	tcG/tcA	0	1	1	UPI000013C91C	0		ENST00000230036		ENSG00000112293	4459		18			HGNC	p.S159S	rs770388401,COSM1545881,COSM1545882	GPLD1		SNV				9.95E-05		0,1,1	ENST00000599624	protein_coding			hmmpanther:PTHR23221:SF7,hmmpanther:PTHR23221,Pfam_domain:PF00882,Prints_domain:PR00718		S		T		588/3489							YES	GPLD1,synonymous_variant,p.=,ENST00000230036,NM_001503.3;GPLD1,non_coding_transcript_exon_variant,,ENST00000474784,;GPLD1,downstream_gene_variant,,ENST00000475417,;GPLD1,non_coding_transcript_exon_variant,,ENST00000378243,;GPLD1,non_coding_transcript_exon_variant,,ENST00000486892,;	0.000117				0,1,1		LOW	477/2523		PHLD_HUMAN			Transcript			.	ENSP00000230036	1.65E-05	CCDS4553.1			1	
SWSAP1	0	LGGM	GRCh37	19	11486557	11486557	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	13	5	.	.	ENST00000312423.2:c.555G>T	p.Glu185Asp	p.E185D	ENST00000312423	NM_175871.3	185	gaG/gaT	0	1	1	UPI000013F2CE	0	NA	ENST00000312423		ENSG00000173928	26638		18	0.6		HGNC	p.E185D		SWSAP1		SNV							ENST00000312423	protein_coding	getma.org/?cm=var&var=hg19,19,11486557,G,T&fts=all				E/D		T	neutral	614/1684		getma.org/?cm=msa&ty=f&p=SWAP1_HUMAN&rb=1&re=200&var=E185D	tolerated(0.17)				YES	SWSAP1,missense_variant,p.Glu185Asp,ENST00000312423,NM_175871.3;EPOR,downstream_gene_variant,,ENST00000592375,;EPOR,downstream_gene_variant,,ENST00000222139,NM_000121.3;CTD-2342J14.6,upstream_gene_variant,,ENST00000590399,;EPOR,downstream_gene_variant,,ENST00000588681,;EPOR,downstream_gene_variant,,ENST00000591958,;EPOR,downstream_gene_variant,,ENST00000586890,;EPOR,downstream_gene_variant,,ENST00000588859,;EPOR,downstream_gene_variant,,ENST00000590927,;							MODERATE	555/690	E185D	SWAP1_HUMAN			Transcript		benign(0.007)	.	ENSP00000310008		CCDS12259.1			1	
TFIP11	0	LGGM	GRCh37	22	26892225	26892225	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	12	5	.	.	ENST00000407690.1:c.1663T>C	p.Trp555Arg	p.W555R	ENST00000407690	NM_012143.2	555	Tgg/Cgg	0	1		UPI0000137191	0	NA	ENST00000405938		ENSG00000100109	17165		17	2.95		HGNC	p.W555R		TFIP11		SNV							ENST00000407148	protein_coding	getma.org/?cm=var&var=hg19,22,26892225,A,G&fts=all		hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,Pfam_domain:PF07842,PIRSF_domain:PIRSF017706		W/R		G	medium	2018/2896		getma.org/?cm=msa&ty=f&p=TFP11_HUMAN&rb=397&re=666&var=W555R	deleterious(0)	F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN				TFIP11,missense_variant,p.Trp555Arg,ENST00000407690,NM_012143.2;TFIP11,missense_variant,p.Trp555Arg,ENST00000407431,;TFIP11,missense_variant,p.Trp555Arg,ENST00000405938,NM_001008697.1;TFIP11,missense_variant,p.Trp555Arg,ENST00000407148,;SRRD,downstream_gene_variant,,ENST00000215917,NM_001013694.2;TFIP11,downstream_gene_variant,,ENST00000450493,;TFIP11,downstream_gene_variant,,ENST00000496523,;TFIP11,upstream_gene_variant,,ENST00000492137,;SRRD,downstream_gene_variant,,ENST00000471799,;TFIP11,downstream_gene_variant,,ENST00000481357,;							MODERATE	1663/2514	W555R	TFP11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384297		CCDS13838.1			1	
RC3H2	0	LGGM	GRCh37	9	125627677	125627677	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	54	5	.	.	ENST00000373670.1:c.1585G>C	p.Ala529Pro	p.A529P	ENST00000373670		529	Gct/Cct	0	1		UPI0000048D91	0	NA	ENST00000357244		ENSG00000056586	21461		59	0		HGNC	p.A529P		RC3H2		SNV							ENST00000423239	protein_coding	getma.org/?cm=var&var=hg19,9,125627677,C,G&fts=all		hmmpanther:PTHR13139,hmmpanther:PTHR13139:SF2		A/P		G	neutral	1826/3991		getma.org/?cm=msa&ty=f&p=RC3H2_HUMAN&rb=438&re=637&var=A529P	tolerated(0.22)					RC3H2,missense_variant,p.Ala529Pro,ENST00000373670,;RC3H2,missense_variant,p.Ala529Pro,ENST00000357244,NM_001100588.1;RC3H2,missense_variant,p.Ala529Pro,ENST00000423239,NM_018835.2;RC3H2,downstream_gene_variant,,ENST00000373665,;RC3H2,3_prime_UTR_variant,,ENST00000498479,;							MODERATE	1585/3576	A529P	RC3H2_HUMAN			Transcript		benign(0.071)	.	ENSP00000349783		CCDS43874.1			1	
TFIP11	0	LGGM	GRCh37	22	26892221	26892221	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	14	5	.	.	ENST00000407690.1:c.1667T>G	p.Leu556Arg	p.L556R	ENST00000407690	NM_012143.2	556	cTg/cGg	0	1		UPI0000137191	0	NA	ENST00000405938		ENSG00000100109	17165		19	3.155		HGNC	p.L556R		TFIP11		SNV							ENST00000407148	protein_coding	getma.org/?cm=var&var=hg19,22,26892221,A,C&fts=all		hmmpanther:PTHR23329,hmmpanther:PTHR23329:SF1,Pfam_domain:PF07842,PIRSF_domain:PIRSF017706		L/R		C	medium	2022/2896		getma.org/?cm=msa&ty=f&p=TFP11_HUMAN&rb=397&re=666&var=L556R	deleterious(0)	F6XM96_HUMAN,F6UQ07_HUMAN,F6UKU9_HUMAN,F6SQZ1_HUMAN				TFIP11,missense_variant,p.Leu556Arg,ENST00000407690,NM_012143.2;TFIP11,missense_variant,p.Leu556Arg,ENST00000407431,;TFIP11,missense_variant,p.Leu556Arg,ENST00000405938,NM_001008697.1;TFIP11,missense_variant,p.Leu556Arg,ENST00000407148,;SRRD,downstream_gene_variant,,ENST00000215917,NM_001013694.2;TFIP11,downstream_gene_variant,,ENST00000450493,;TFIP11,downstream_gene_variant,,ENST00000496523,;TFIP11,upstream_gene_variant,,ENST00000492137,;SRRD,downstream_gene_variant,,ENST00000471799,;TFIP11,downstream_gene_variant,,ENST00000481357,;							MODERATE	1667/2514	L556R	TFP11_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384297		CCDS13838.1			1	
KCNQ1	0	LGGM	GRCh37	11	2591976	2591976	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	16	5	.	.	ENST00000155840.5:c.596C>T	p.Ser199Phe	p.S199F	ENST00000155840	NM_000218.2	199	tCc/tTc	0	1	1	UPI000004662D	0	getma.org/pdb.php?prot=KCNQ1_HUMAN&from=158&to=347&var=S199F	ENST00000155840		ENSG00000053918	6294		21	2.5		HGNC	p.S112F		KCNQ1		SNV			1				ENST00000496887	protein_coding	getma.org/?cm=var&var=hg19,11,2591976,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF109,Gene3D:1.10.287.70,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR01459		S/F		T	medium	704/3245		getma.org/?cm=msa&ty=f&p=KCNQ1_HUMAN&rb=158&re=347&var=S199F	deleterious(0.02)	Q96AI9_HUMAN,A0FIK7_HUMAN			YES	KCNQ1,missense_variant,p.Ser199Phe,ENST00000155840,NM_000218.2,NM_181798.1;KCNQ1,missense_variant,p.Ser72Phe,ENST00000335475,;KCNQ1,missense_variant,p.Ser112Phe,ENST00000496887,;							MODERATE	596/2031	S199F	KCNQ1_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000155840		CCDS7736.1			1	
FAM83E	0	LGGM	GRCh37	19	49113229	49113229	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	5	5	.	.	ENST00000263266.3:c.662G>A	p.Cys221Tyr	p.C221Y	ENST00000263266	NM_017708.3	221	tGc/tAc	0	1	1	UPI000013D3D9	0	NA	ENST00000263266		ENSG00000105523	25972		10	1.79		HGNC	p.C221Y		FAM83E		SNV							ENST00000263266	protein_coding	getma.org/?cm=var&var=hg19,19,49113229,C,T&fts=all		hmmpanther:PTHR16181:SF6,hmmpanther:PTHR16181,Gene3D:3.30.870.10,Pfam_domain:PF07894,Superfamily_domains:SSF56024		C/Y		T	low	852/1926		getma.org/?cm=msa&ty=f&p=FA83E_HUMAN&rb=9&re=291&var=C221Y	deleterious(0.02)	M0QZ37_HUMAN			YES	FAM83E,missense_variant,p.Cys221Tyr,ENST00000263266,NM_017708.3;SPACA4,downstream_gene_variant,,ENST00000321762,NM_133498.2;FAM83E,downstream_gene_variant,,ENST00000593772,;FAM83E,downstream_gene_variant,,ENST00000595110,;FAM83E,downstream_gene_variant,,ENST00000599126,;							MODERATE	662/1437	C221Y	FA83E_HUMAN			Transcript		probably_damaging(0.914)	.	ENSP00000263266		CCDS42587.1			1	
MYO9A	0	LGGM	GRCh37	15	72189976	72189976	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	57	6	.	.	ENST00000356056.5:c.4868C>G	p.Thr1623Arg	p.T1623R	ENST00000356056	NM_006901.3	1623	aCa/aGa	0	1	1	UPI000013D213	0	NA	ENST00000356056		ENSG00000066933	7608		63	0.975		HGNC	p.T1623R		MYO9A		SNV							ENST00000356056	protein_coding	getma.org/?cm=var&var=hg19,15,72189976,G,C&fts=all		hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140		T/R		C	low	5341/12409		getma.org/?cm=msa&ty=f&p=MYO9A_HUMAN&rb=1590&re=1714&var=T1623R	tolerated_low_confidence(0.37)	H3BSU8_HUMAN,H3BMS3_HUMAN			YES	MYO9A,missense_variant,p.Thr1623Arg,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Thr1623Arg,ENST00000424560,;MYO9A,missense_variant,p.Thr1604Arg,ENST00000444904,;MYO9A,missense_variant,p.Thr1623Arg,ENST00000564571,;MYO9A,missense_variant,p.Thr1243Arg,ENST00000566885,;MYO9A,missense_variant,p.Thr402Arg,ENST00000561618,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,non_coding_transcript_exon_variant,,ENST00000568781,;							MODERATE	4868/7647	T1623R	MYO9A_HUMAN			Transcript		benign(0.181)	.	ENSP00000348349		CCDS10239.1			1	
UBE2U	0	LGGM	GRCh37	1	64707339	64707339	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	17	6	.	.	ENST00000371076.3:c.600C>T	p.Leu200=	p.L200=	ENST00000371076	NM_152489.1	200	ctC/ctT	0	1	1	UPI000006E065	0		ENST00000371076		ENSG00000177414	28559		23			HGNC	p.L200L		UBE2U		SNV							ENST00000371077	protein_coding					L		T		844/1136							YES	UBE2U,synonymous_variant,p.=,ENST00000371077,;UBE2U,synonymous_variant,p.=,ENST00000371076,NM_152489.1;UBE2U,synonymous_variant,p.=,ENST00000608020,;UBE2U,synonymous_variant,p.=,ENST00000608956,;UBE2U,non_coding_transcript_exon_variant,,ENST00000464349,;							LOW	600/681		UBE2U_HUMAN			Transcript			.	ENSP00000360116		CCDS627.1			1	
KCNK5	0	LGGM	GRCh37	6	39158924	39158924	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	12	6	.	.	ENST00000359534.3:c.1242C>A	p.Ile414=	p.I414=	ENST00000359534	NM_003740.3	414	atC/atA	0	1	1	UPI000003AFB5	0		ENST00000359534		ENSG00000164626	6280		18			HGNC	p.I414I		KCNK5		SNV							ENST00000359534	protein_coding			hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22		I		T		1581/3756							YES	KCNK5,synonymous_variant,p.=,ENST00000359534,NM_003740.3;							LOW	1242/1500		KCNK5_HUMAN			Transcript			.	ENSP00000352527		CCDS4841.1			1	
PPP1CA	0	LGGM	GRCh37	11	67167065	67167065	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	8	6	.	.	ENST00000312989.7:c.523A>G	p.Ile175Val	p.I175V	ENST00000312989		175	Ata/Gta	0	1		UPI0000000C37	0	getma.org/pdb.php?prot=PP1A_HUMAN&from=57&to=252&var=I164V	ENST00000376745		ENSG00000172531	9281		14	0.12		HGNC	p.I175V		PPP1CA		SNV							ENST00000312989	protein_coding	getma.org/?cm=var&var=hg19,11,67167065,T,C&fts=all		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF207,Gene3D:3.60.21.10,Pfam_domain:PF00149,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114		I/V		C	neutral	639/1476		getma.org/?cm=msa&ty=f&p=PP1A_HUMAN&rb=57&re=252&var=I164V	tolerated_low_confidence(0.28)	C4TNW6_HUMAN,C4TNW5_HUMAN,C0STL0_HUMAN				PPP1CA,missense_variant,p.Ile164Val,ENST00000376745,NM_001008709.1,NM_002708.3;PPP1CA,missense_variant,p.Ile175Val,ENST00000312989,;PPP1CA,missense_variant,p.Ile120Val,ENST00000358239,NM_206873.1;PPP1CA,intron_variant,,ENST00000527663,;RAD9A,downstream_gene_variant,,ENST00000307980,NM_004584.2,NM_001243224.1;TBC1D10C,upstream_gene_variant,,ENST00000312390,NM_198517.3;TBC1D10C,upstream_gene_variant,,ENST00000542590,;TBC1D10C,upstream_gene_variant,,ENST00000526387,NM_001256508.1;RAD9A,downstream_gene_variant,,ENST00000544620,;PPP1CA,downstream_gene_variant,,ENST00000542876,;PPP1CA,downstream_gene_variant,,ENST00000546202,;RNU6-1238P,upstream_gene_variant,,ENST00000517215,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532446,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000537694,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000532279,;RAD9A,downstream_gene_variant,,ENST00000535644,;RAD9A,downstream_gene_variant,,ENST00000529100,;RAD9A,downstream_gene_variant,,ENST00000543808,;PPP1CA,downstream_gene_variant,,ENST00000529724,;PPP1CA,non_coding_transcript_exon_variant,,ENST00000526510,;TBC1D10C,upstream_gene_variant,,ENST00000529635,;RAD9A,downstream_gene_variant,,ENST00000530934,;TBC1D10C,upstream_gene_variant,,ENST00000530967,;RAD9A,downstream_gene_variant,,ENST00000538013,;RAD9A,downstream_gene_variant,,ENST00000542139,;							MODERATE	490/993	I164V	PP1A_HUMAN			Transcript		benign(0.026)	.	ENSP00000365936		CCDS8160.1			1	
ARID4A	0	LGGM	GRCh37	14	58813198	58813198	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	11	6	.	.	ENST00000355431.3:c.1049T>G	p.Val350Gly	p.V350G	ENST00000355431	NM_002892.3	350	gTt/gGt	0	1	1	UPI000013FD01	0	getma.org/pdb.php?prot=ARI4A_HUMAN&from=306&to=397&var=V350G	ENST00000355431		ENSG00000032219	9885		17	3.455		HGNC	p.V350G		ARID4A		SNV							ENST00000355431	protein_coding	getma.org/?cm=var&var=hg19,14,58813198,T,G&fts=all		Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF1,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774		V/G		G	medium	1422/5891		getma.org/?cm=msa&ty=f&p=ARI4A_HUMAN&rb=306&re=397&var=V350G	deleterious(0)	H7C485_HUMAN,C9JIF4_HUMAN			YES	ARID4A,missense_variant,p.Val350Gly,ENST00000355431,NM_002892.3;ARID4A,missense_variant,p.Val350Gly,ENST00000431317,;ARID4A,missense_variant,p.Val350Gly,ENST00000348476,NM_023001.2,NM_023000.2;ARID4A,missense_variant,p.Val350Gly,ENST00000395168,;ARID4A,missense_variant,p.Val28Gly,ENST00000417477,;ARID4A,upstream_gene_variant,,ENST00000553355,;							MODERATE	1049/3774	V350G	ARI4A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347602		CCDS9732.1			1	
STAC3	0	LGGM	GRCh37	12	57637675	57637675	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	9	7	.	.	ENST00000332782.2:c.1015G>A	p.Asp339Asn	p.D339N	ENST00000332782	NM_145064.1	339	Gac/Aac	0	1	1	UPI000006E4D3	0	NA	ENST00000332782		ENSG00000185482	28423		16	0.755		HGNC	p.D339N		STAC3		SNV			1				ENST00000332782	protein_coding	getma.org/?cm=var&var=hg19,12,57637675,C,T&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF07653,hmmpanther:PTHR15135,hmmpanther:PTHR15135:SF2,SMART_domains:SM00326,Superfamily_domains:SSF50044		D/N		T	neutral	1217/1656		getma.org/?cm=msa&ty=f&p=STAC3_HUMAN&rb=310&re=364&var=D339N	tolerated(0.11)	G3V5D4_HUMAN,B4DUK9_HUMAN			YES	STAC3,missense_variant,p.Asp339Asn,ENST00000332782,NM_145064.1;STAC3,missense_variant,p.Asp300Asn,ENST00000554578,NM_001286256.1;STAC3,missense_variant,p.Asp153Asn,ENST00000546246,NM_001286257.1;NDUFA4L2,upstream_gene_variant,,ENST00000393825,NM_020142.3;STAC3,downstream_gene_variant,,ENST00000553489,;NDUFA4L2,upstream_gene_variant,,ENST00000557276,;NDUFA4L2,upstream_gene_variant,,ENST00000556234,;STAC3,3_prime_UTR_variant,,ENST00000557176,;STAC3,downstream_gene_variant,,ENST00000554003,;							MODERATE	1015/1095	D339N	STAC3_HUMAN			Transcript		benign(0.428)	.	ENSP00000329200		CCDS8936.1			1	
SYNJ2	0	LGGM	GRCh37	6	158504462	158504462	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	26	7	.	.	ENST00000355585.4:c.2867T>G	p.Val956Gly	p.V956G	ENST00000355585	NM_001178088.1	956	gTg/gGg	0	1	1	UPI000006E2F8	0	getma.org/pdb.php?prot=SYNJ2_HUMAN&from=863&to=1008&var=V956G	ENST00000355585		ENSG00000078269	11504		33	1.83		HGNC	p.V956G		SYNJ2		SNV							ENST00000367121	protein_coding	getma.org/?cm=var&var=hg19,6,158504462,T,G&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF08952,PROSITE_profiles:PS50102,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98,Superfamily_domains:SSF54928		V/G		G	low	2942/7378		getma.org/?cm=msa&ty=f&p=SYNJ2_HUMAN&rb=863&re=1008&var=V956G	deleterious(0)	B4DLC4_HUMAN			YES	SYNJ2,missense_variant,p.Val956Gly,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,missense_variant,p.Val956Gly,ENST00000367122,;SYNJ2,missense_variant,p.Val41Gly,ENST00000367112,;SYNJ2,missense_variant,p.Val956Gly,ENST00000367121,;							MODERATE	2867/4491	V956G	SYNJ2_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000347792		CCDS5254.1			1	
SERPINB2	0	LGGM	GRCh37	18	61568997	61568997	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	71	7	.	.	ENST00000457692.1:c.559G>T	p.Glu187Ter	p.E187*	ENST00000457692	NM_001143818.1	187	Gaa/Taa	0	1		UPI000002BB06	0	NA	ENST00000299502		ENSG00000197632	8584		78	0		HGNC	p.E187X		SERPINB2		SNV							ENST00000299502	protein_coding	getma.org/?cm=var&var=hg19,18,61568997,G,T&fts=all		Superfamily_domains:SSF56574,SMART_domains:SM00093,Pfam_domain:PF00079,Gene3D:3.30.497.10,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF61		E/*		T	NA	639/1913		NA		Q6LDR6_HUMAN,E9PDK7_HUMAN,E7ERB5_HUMAN,E7EPJ9_HUMAN				SERPINB2,stop_gained,p.Glu187Ter,ENST00000457692,NM_001143818.1;SERPINB2,stop_gained,p.Glu187Ter,ENST00000299502,NM_002575.2;SERPINB10,stop_gained,p.Glu64Ter,ENST00000397996,;SERPINB10,stop_gained,p.Glu64Ter,ENST00000418725,;SERPINB2,downstream_gene_variant,,ENST00000413956,;SERPINB2,downstream_gene_variant,,ENST00000443281,;SERPINB2,downstream_gene_variant,,ENST00000404622,;SERPINB2,non_coding_transcript_exon_variant,,ENST00000482254,;							HIGH	559/1248	E187*	PAI2_HUMAN			Transcript			.	ENSP00000299502		CCDS11989.1			1	
PPP2R5C	0	LGGM	GRCh37	14	102276293	102276293	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	14	7	.	.	ENST00000422945.2:c.94-9036A>G		*32*	ENST00000422945	NM_001161725.1			0	1		UPI000019C428	0	NA	ENST00000334743		ENSG00000078304	9311		21	-1.24		HGNC	p.N5S		PPP2R5C		SNV							ENST00000445439	protein_coding	getma.org/?cm=var&var=hg19,14,102276293,A,G&fts=all		PIRSF_domain:PIRSF028043		N/S		G	neutral	62/4328		getma.org/?cm=msa&ty=f&p=2A5G_HUMAN&rb=1&re=56&var=N5S	tolerated_low_confidence(0.2)	Q96B13_HUMAN				PPP2R5C,missense_variant,p.Asn5Ser,ENST00000334743,NM_002719.3;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000350249,NM_178586.2;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000445439,NM_178587.2;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000557095,;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000557621,;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000556946,;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000557714,;PPP2R5C,intron_variant,,ENST00000422945,NM_001161725.1;PPP2R5C,intron_variant,,ENST00000328724,NM_001161726.1;PPP2R5C,intron_variant,,ENST00000557268,;PPP2R5C,intron_variant,,ENST00000554442,;PPP2R5C,intron_variant,,ENST00000553890,;CTD-2017C7.2,intron_variant,,ENST00000554859,;PPP2R5C,intron_variant,,ENST00000556068,;PPP2R5C,intron_variant,,ENST00000554504,;PPP2R5C,missense_variant,p.Asn5Ser,ENST00000556307,;PPP2R5C,non_coding_transcript_exon_variant,,ENST00000553730,;							MODERATE	14/1575	N5S	2A5G_HUMAN			Transcript		benign(0)	.	ENSP00000333905		CCDS9964.1			1	
CDH15	0	LGGM	GRCh37	16	89259891	89259891	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	6	7	.	.	ENST00000289746.2:c.1869C>T	p.Leu623=	p.L623=	ENST00000289746	NM_004933.2	623	ctC/ctT	0	1	1	UPI0000126DAF	0		ENST00000289746		ENSG00000129910	1754		13			HGNC	p.L623L		CDH15		SNV			1				ENST00000289746	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67		L		T		1934/2847							YES	CDH15,synonymous_variant,p.=,ENST00000289746,NM_004933.2;SLC22A31,downstream_gene_variant,,ENST00000562855,;SLC22A31,downstream_gene_variant,,ENST00000563595,;SLC22A31,downstream_gene_variant,,ENST00000562916,;							LOW	1869/2445		CAD15_HUMAN			Transcript			.	ENSP00000289746		CCDS10976.1			1	
PIK3C3	0	LGGM	GRCh37	18	39542455	39542455	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	21	8	.	.	ENST00000262039.4:c.259T>G	p.Trp87Gly	p.W87G	ENST00000262039	NM_002647.2	87	Tgg/Ggg	0	1	1	UPI00000708CE	0	getma.org/pdb.php?prot=PK3C3_HUMAN&from=53&to=198&var=W87G	ENST00000262039		ENSG00000078142	8974		29	3.35		HGNC	p.W87G		PIK3C3		SNV							ENST00000262039	protein_coding	getma.org/?cm=var&var=hg19,18,39542455,T,G&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00142,PIRSF_domain:PIRSF000587,Gene3D:2.60.40.150,Pfam_domain:PF00792,hmmpanther:PTHR10048,PROSITE_profiles:PS51547		W/G		G	medium	345/9443		getma.org/?cm=msa&ty=f&p=PK3C3_HUMAN&rb=53&re=198&var=W87G	deleterious(0)	M0R2C5_HUMAN,M0R0W7_HUMAN,M0R0U1_HUMAN,M0R0G8_HUMAN,M0QZG0_HUMAN			YES	PIK3C3,missense_variant,p.Trp87Gly,ENST00000262039,NM_002647.2;PIK3C3,missense_variant,p.Trp24Gly,ENST00000398870,;PIK3C3,missense_variant,p.Trp87Gly,ENST00000586545,;PIK3C3,missense_variant,p.Trp74Gly,ENST00000585528,;PIK3C3,downstream_gene_variant,,ENST00000590220,;PIK3C3,missense_variant,p.Trp42Gly,ENST00000591011,;PIK3C3,splice_region_variant,,ENST00000589550,;							MODERATE	259/2664	W87G	PK3C3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262039		CCDS11920.1			1	
ALK	0	LGGM	GRCh37	2	29940479	29940479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	61	8	.	.	ENST00000389048.3:c.752A>T	p.Asp251Val	p.D251V	ENST00000389048	NM_004304.4	251	gAc/gTc	0	1	1	UPI00001684DA	0	NA	ENST00000389048		ENSG00000171094	427		69	0.345		HGNC	p.D251V		ALK		SNV			1				ENST00000389048	protein_coding	getma.org/?cm=var&var=hg19,2,29940479,T,A&fts=all				D/V		A	neutral	1659/6220		getma.org/?cm=msa&ty=f&p=ALK_HUMAN&rb=1&re=259&var=D251V	deleterious_low_confidence(0)	Q580I3_HUMAN			YES	ALK,missense_variant,p.Asp251Val,ENST00000389048,NM_004304.4;ALK,missense_variant,p.Asp251Val,ENST00000431873,;							MODERATE	752/4863	D251V	ALK_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000373700		CCDS33172.1			1	
SRRM1	0	LGGM	GRCh37	1	24979059	24979059	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	15	8	.	.	ENST00000323848.9:c.860G>T	p.Arg287Leu	p.R287L	ENST00000323848	NM_005839.3	287	cGg/cTg	0	1	1	UPI000013EBEB	0	NA	ENST00000323848		ENSG00000133226	16638		23	1.24		HGNC	p.R287L		SRRM1		SNV							ENST00000323848	protein_coding	getma.org/?cm=var&var=hg19,1,24979059,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23148		R/L		T	low	1175/4011		getma.org/?cm=msa&ty=f&p=SRRM1_HUMAN&rb=119&re=318&var=R287L		M0QXG5_HUMAN			YES	SRRM1,missense_variant,p.Arg287Leu,ENST00000323848,NM_005839.3;SRRM1,missense_variant,p.Arg287Leu,ENST00000447431,;SRRM1,missense_variant,p.Arg287Leu,ENST00000374389,;SRRM1,missense_variant,p.Arg248Leu,ENST00000596378,;SRRM1,missense_variant,p.Arg156Leu,ENST00000537199,;SRRM1,downstream_gene_variant,,ENST00000593639,;SRRM1,non_coding_transcript_exon_variant,,ENST00000479034,;SRRM1,non_coding_transcript_exon_variant,,ENST00000496882,;SRRM1,non_coding_transcript_exon_variant,,ENST00000470243,;SRRM1,non_coding_transcript_exon_variant,,ENST00000485441,;SRRM1,downstream_gene_variant,,ENST00000466910,;SRRM1,downstream_gene_variant,,ENST00000468822,;SRRM1,upstream_gene_variant,,ENST00000485541,;SRRM1,downstream_gene_variant,,ENST00000490543,;SRRM1,downstream_gene_variant,,ENST00000495561,;SRRM1,upstream_gene_variant,,ENST00000461768,;SRRM1,downstream_gene_variant,,ENST00000478890,;SRRM1,downstream_gene_variant,,ENST00000462710,;SRRM1,downstream_gene_variant,,ENST00000494934,;SRRM1,downstream_gene_variant,,ENST00000600523,;SRRM1,upstream_gene_variant,,ENST00000488317,;							MODERATE	860/2715	R287L	SRRM1_HUMAN			Transcript		unknown(0)	.	ENSP00000326261		CCDS255.1			1	
MAP4K1	0	LGGM	GRCh37	19	39078444	39078444	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	12	8	.	.	ENST00000591517.1:c.*6G>A		*2*	ENST00000591517	NM_007181.4			0	1	1	UPI00000747ED	0		ENST00000591517		ENSG00000104814	6863		20			HGNC	p.E378K		MAP4K1		SNV							ENST00000586296	protein_coding							T		2537/2700							YES	MAP4K1,missense_variant,p.Glu800Lys,ENST00000589130,;MAP4K1,missense_variant,p.Glu804Lys,ENST00000396857,NM_001042600.1;MAP4K1,missense_variant,p.Glu508Lys,ENST00000591921,;MAP4K1,missense_variant,p.Glu378Lys,ENST00000586296,;MAP4K1,3_prime_UTR_variant,,ENST00000591517,NM_007181.4;RYR1,downstream_gene_variant,,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,downstream_gene_variant,,ENST00000360985,;RYR1,downstream_gene_variant,,ENST00000359596,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000593196,;MAP4K1,non_coding_transcript_exon_variant,,ENST00000591210,;							MODIFIER	-/2502		M4K1_HUMAN			Transcript			.	ENSP00000465039		CCDS59385.1			1	
EVC2	0	LGGM	GRCh37	4	5667253	5667253	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	8	8	.	.	ENST00000344408.5:c.994A>T	p.Thr332Ser	p.T332S	ENST00000344408	NM_147127.4	332	Acc/Tcc	0	1	1	UPI00001910B5	0	NA	ENST00000344408		ENSG00000173040	19747		16	0.755		HGNC	p.T332S		EVC2		SNV			1				ENST00000344408	protein_coding	getma.org/?cm=var&var=hg19,4,5667253,T,A&fts=all		Pfam_domain:PF12297,hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		T/S		A	neutral	1048/4390		getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=237&re=661&var=T332S	tolerated(1)	Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,missense_variant,p.Thr252Ser,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Thr332Ser,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Thr332Ser,ENST00000344938,;EVC2,missense_variant,p.Thr252Ser,ENST00000475313,;EVC2,missense_variant,p.Thr252Ser,ENST00000509670,;							MODERATE	994/3927	T332S	LBN_HUMAN			Transcript		benign(0.038)	.	ENSP00000342144		CCDS3382.2			1	
MYRIP	0	LGGM	GRCh37	3	40231922	40231922	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	16	8	.	.	ENST00000302541.6:c.1633A>C	p.Ser545Arg	p.S545R	ENST00000302541	NM_015460.2	545	Agc/Cgc	0	1	1	UPI0000074787	0	NA	ENST00000302541		ENSG00000170011	19156		24	0.69		HGNC	p.S456R		MYRIP		SNV							ENST00000396217	protein_coding	getma.org/?cm=var&var=hg19,3,40231922,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14555:SF6,hmmpanther:PTHR14555,Pfam_domain:PF04698		S/R		C	neutral	1975/5077		getma.org/?cm=msa&ty=f&p=MYRIP_HUMAN&rb=152&re=859&var=S545R	tolerated(0.27)				YES	MYRIP,missense_variant,p.Ser545Arg,ENST00000302541,NM_015460.2,NM_001284423.1;MYRIP,missense_variant,p.Ser456Arg,ENST00000396217,NM_001284425.1;MYRIP,missense_variant,p.Ser545Arg,ENST00000425621,NM_001284424.1;MYRIP,missense_variant,p.Ser545Arg,ENST00000444716,;MYRIP,missense_variant,p.Ser358Arg,ENST00000539167,NM_001284426.1;MYRIP,non_coding_transcript_exon_variant,,ENST00000459828,;MYRIP,missense_variant,p.Ser545Arg,ENST00000458292,;MYRIP,3_prime_UTR_variant,,ENST00000458441,;							MODERATE	1633/2580	S545R	MYRIP_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000301972		CCDS2689.1			1	
LTBP4	0	LGGM	GRCh37	19	41111329	41111329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	8	.	.	ENST00000308370.7:c.662G>T	p.Ser221Ile	p.S221I	ENST00000308370	NM_001042544.1	221	aGc/aTc	0	1	1	UPI000179A7A0	0	NA	ENST00000308370		ENSG00000090006	6717		27	1.1		HGNC	p.S184I		LTBP4		SNV			1				ENST00000204005	protein_coding	getma.org/?cm=var&var=hg19,19,41111329,G,T&fts=all		hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		S/I		T	low	662/5142		getma.org/?cm=msa&ty=f&p=LTBP4_HUMAN&rb=201&re=356&var=S221I	deleterious(0.02)				YES	LTBP4,missense_variant,p.Ser221Ile,ENST00000308370,NM_001042544.1;LTBP4,missense_variant,p.Ser184Ile,ENST00000204005,NM_003573.2;LTBP4,missense_variant,p.Ser154Ile,ENST00000396819,NM_001042545.1;LTBP4,5_prime_UTR_variant,,ENST00000545697,;RN7SL758P,downstream_gene_variant,,ENST00000580450,;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,,ENST00000599016,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,downstream_gene_variant,,ENST00000593738,;							MODERATE	662/4872	S221I	LTBP4_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000311905					1	
ARID4A	0	LGGM	GRCh37	14	58813176	58813184	+	inframe_deletion	In_Frame_Del	DEL	CTCTTCAAA	CTCTTCAAA	-	novel	by Submitter	H110795	H110795N.bam	CTCTTCAAA	CTCTTCAAA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	13	8	.	.	ENST00000355431.3:c.1034_1042del	p.Lys345_Phe347del	p.K345_F347del	ENST00000355431	NM_002892.3	343	CTCTTCAAA/-	0	1	1	UPI000013FD01	0		ENST00000355431		ENSG00000032219	9885		21			HGNC	p.343_345del		ARID4A		deletion							ENST00000355431	protein_coding			Gene3D:1.10.150.60,Pfam_domain:PF01388,PROSITE_profiles:PS51011,hmmpanther:PTHR13964,hmmpanther:PTHR13964:SF1,SMART_domains:SM00501,SMART_domains:SM01014,Superfamily_domains:SSF46774		LFK/-		-		1400-1408/5891				H7C485_HUMAN,C9JIF4_HUMAN			YES	ARID4A,inframe_deletion,p.Lys345_Phe347del,ENST00000355431,NM_002892.3;ARID4A,inframe_deletion,p.Lys345_Phe347del,ENST00000431317,;ARID4A,inframe_deletion,p.Lys345_Phe347del,ENST00000348476,NM_023001.2,NM_023000.2;ARID4A,inframe_deletion,p.Lys345_Phe347del,ENST00000395168,;ARID4A,inframe_deletion,p.Lys23_Phe25del,ENST00000417477,;ARID4A,upstream_gene_variant,,ENST00000553355,;							MODERATE	1027-1035/3774		ARI4A_HUMAN			Transcript	7		.	ENSP00000347602		CCDS9732.1			1	
ATPAF1	0	LGGM	GRCh37	1	47108936	47108936	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	22	8	.	.	ENST00000576409.1:c.791A>G	p.Tyr264Cys	p.Y264C	ENST00000576409		264	tAt/tGt	0	1		UPI0000DACAC7	0	getma.org/pdb.php?prot=ATPF1_HUMAN&from=69&to=310&var=Y241C	ENST00000574428		ENSG00000123472	18803		30	1.67		HGNC	p.Y241C		ATPAF1		SNV			1				ENST00000371937	protein_coding	getma.org/?cm=var&var=hg19,1,47108936,T,C&fts=all						C	low	-/3923		getma.org/?cm=msa&ty=f&p=ATPF1_HUMAN&rb=69&re=310&var=Y241C		I3L1W9_HUMAN				ATPAF1,missense_variant,p.Tyr264Cys,ENST00000576409,;ATPAF1,missense_variant,p.Tyr241Cys,ENST00000371937,NM_022745.4;ATPAF1,missense_variant,p.Tyr90Cys,ENST00000542495,NM_001256418.1;ATPAF1,missense_variant,p.Tyr153Cys,ENST00000532925,NM_001243728.1;ATPAF1,missense_variant,p.Tyr96Cys,ENST00000534216,;ATPAF1,missense_variant,p.Tyr45Cys,ENST00000492233,;ATPAF1,intron_variant,,ENST00000574428,;ATPAF1,intron_variant,,ENST00000329231,NM_001042546.2;ATPAF1,intron_variant,,ENST00000526821,;ATPAF1,3_prime_UTR_variant,,ENST00000529214,;							MODIFIER	-/783	Y241C				Transcript			.	ENSP00000459167					1	
ZNF354B	0	LGGM	GRCh37	5	178309827	178309827	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	29	8	.	.	ENST00000322434.3:c.374G>T	p.Cys125Phe	p.C125F	ENST00000322434	NM_058230.2	125	tGc/tTc	0	1	1	UPI0000071A24	0	NA	ENST00000322434		ENSG00000178338	17197		37	1.04		HGNC	p.C125F		ZNF354B		SNV							ENST00000520377	protein_coding	getma.org/?cm=var&var=hg19,5,178309827,G,T&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87		C/F		T	low	600/2802		getma.org/?cm=msa&ty=f&p=Z354B_HUMAN&rb=55&re=213&var=C125F	tolerated(0.59)	E5RH89_HUMAN			YES	ZNF354B,missense_variant,p.Cys125Phe,ENST00000322434,NM_058230.2;ZNF354B,missense_variant,p.Cys125Phe,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;							MODERATE	374/1839	C125F	Z354B_HUMAN			Transcript		benign(0.003)	.	ENSP00000327143		CCDS4439.1			1	
EIF3F	0	LGGM	GRCh37	11	8013382	8013382	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	115	8	.	.	ENST00000533626.1:c.419A>T	p.Asn140Ile	p.N140I	ENST00000533626		140	aAt/aTt	0	1		UPI000012D301	0	getma.org/pdb.php?prot=EIF3F_HUMAN&from=87&to=196&var=N140I	ENST00000309828		ENSG00000175390	3275		123	2.625		HGNC	p.N155I		EIF3F		SNV							ENST00000537635	protein_coding	getma.org/?cm=var&var=hg19,11,8013382,A,T&fts=all		SMART_domains:SM00232,Pfam_domain:PF01398,hmmpanther:PTHR10540,HAMAP:MF_03005		N/I		T	medium	452/1254		getma.org/?cm=msa&ty=f&p=EIF3F_HUMAN&rb=87&re=196&var=N140I	deleterious(0.01)	B4DEW9_HUMAN				EIF3F,missense_variant,p.Asn140Ile,ENST00000533626,;EIF3F,missense_variant,p.Asn155Ile,ENST00000537635,;EIF3F,missense_variant,p.Asn140Ile,ENST00000309828,NM_003754.2;EIF3F,intron_variant,,ENST00000449102,;EIF3F,upstream_gene_variant,,ENST00000531572,;EIF3F,non_coding_transcript_exon_variant,,ENST00000528653,;EIF3F,non_coding_transcript_exon_variant,,ENST00000532882,;EIF3F,intron_variant,,ENST00000531329,;EIF3F,upstream_gene_variant,,ENST00000530219,;EIF3F,upstream_gene_variant,,ENST00000528763,;							MODERATE	419/1074	N140I	EIF3F_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000310040		CCDS7785.1			1	
LTBP4	0	LGGM	GRCh37	19	41111330	41111330	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	8	.	.	ENST00000308370.7:c.663C>T	p.Ser221=	p.S221=	ENST00000308370	NM_001042544.1	221	agC/agT	0	1	1	UPI000179A7A0	0		ENST00000308370		ENSG00000090006	6717		27			HGNC	p.S184S	rs756943219	LTBP4		SNV			1				ENST00000204005	protein_coding			hmmpanther:PTHR24034,hmmpanther:PTHR24034:SF41		S		T		663/5142							YES	LTBP4,synonymous_variant,p.=,ENST00000308370,NM_001042544.1;LTBP4,synonymous_variant,p.=,ENST00000204005,NM_003573.2;LTBP4,synonymous_variant,p.=,ENST00000396819,NM_001042545.1;LTBP4,5_prime_UTR_variant,,ENST00000545697,;RN7SL758P,downstream_gene_variant,,ENST00000580450,;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,,ENST00000599016,;LTBP4,non_coding_transcript_exon_variant,,ENST00000594537,;LTBP4,upstream_gene_variant,,ENST00000598677,;LTBP4,downstream_gene_variant,,ENST00000600026,;LTBP4,intron_variant,,ENST00000598717,;LTBP4,upstream_gene_variant,,ENST00000546155,;LTBP4,upstream_gene_variant,,ENST00000595529,;LTBP4,upstream_gene_variant,,ENST00000598256,;LTBP4,downstream_gene_variant,,ENST00000593738,;	0.000119						LOW	663/4872		LTBP4_HUMAN			Transcript			.	ENSP00000311905	8.31E-06				1	
ZNF354B	0	LGGM	GRCh37	5	178309828	178309828	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	29	8	.	.	ENST00000322434.3:c.375C>T	p.Cys125=	p.C125=	ENST00000322434	NM_058230.2	125	tgC/tgT	0	1	1	UPI0000071A24	0		ENST00000322434		ENSG00000178338	17197		37			HGNC	p.C125C		ZNF354B		SNV							ENST00000520377	protein_coding			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF87		C		T		601/2802				E5RH89_HUMAN			YES	ZNF354B,synonymous_variant,p.=,ENST00000322434,NM_058230.2;ZNF354B,synonymous_variant,p.=,ENST00000520377,;RNU1-39P,upstream_gene_variant,,ENST00000383897,;ZNF354B,upstream_gene_variant,,ENST00000522714,;ZNF354B,upstream_gene_variant,,ENST00000522624,;							LOW	375/1839		Z354B_HUMAN			Transcript			.	ENSP00000327143		CCDS4439.1			1	
CD82	0	LGGM	GRCh37	11	44640211	44640211	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	9	8	.	.	ENST00000227155.4:c.664G>A	p.Ala222Thr	p.A222T	ENST00000227155	NM_002231.3	222	Gcg/Acg	0	1	1	UPI00001273AE	0	NA	ENST00000227155		ENSG00000085117	6210		17	0.715		HGNC	p.A197T	COSM926997	CD82		SNV						1	ENST00000342935	protein_coding	getma.org/?cm=var&var=hg19,11,44640211,G,A&fts=all		Superfamily_domains:0037997,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF44		A/T		A	neutral	912/2289		getma.org/?cm=msa&ty=f&p=CD82_HUMAN&rb=8&re=256&var=A222T	tolerated(0.42)	E9PP61_HUMAN,E9PJK9_HUMAN,E9PJB7_HUMAN,E9PJ59_HUMAN			YES	CD82,missense_variant,p.Ala222Thr,ENST00000227155,NM_002231.3;CD82,missense_variant,p.Ala197Thr,ENST00000342935,NM_001024844.1;CD82,intron_variant,,ENST00000524750,;CD82,downstream_gene_variant,,ENST00000530601,;CD82,downstream_gene_variant,,ENST00000526958,;CD82,non_coding_transcript_exon_variant,,ENST00000530931,;CD82,non_coding_transcript_exon_variant,,ENST00000529277,;CD82,non_coding_transcript_exon_variant,,ENST00000525898,;					1		MODERATE	664/804	A222T	CD82_HUMAN			Transcript		benign(0.014)	.	ENSP00000227155		CCDS7909.1			1	
ANK2	0	LGGM	GRCh37	4	114284492	114284492	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	21	9	.	.	ENST00000357077.4:c.10757-2A>G		p.X3586_splice	ENST00000357077	NM_001148.4			0	1	1	UPI0000441EF3	0		ENST00000357077		ENSG00000145362	493		30			HGNC	-		ANK2		SNV			1				ENST00000506722	protein_coding							G		-/14196				D6RHC5_HUMAN			YES	ANK2,splice_acceptor_variant,,ENST00000357077,NM_001148.4;ANK2,splice_acceptor_variant,,ENST00000264366,;ANK2,splice_acceptor_variant,,ENST00000506722,NM_001127493.1;ANK2,splice_acceptor_variant,,ENST00000394537,NM_020977.3;ANK2,splice_acceptor_variant,,ENST00000505342,;ANK2,splice_acceptor_variant,,ENST00000514960,;ANK2,splice_acceptor_variant,,ENST00000509550,;ANK2,splice_acceptor_variant,,ENST00000510275,;ANK2,splice_acceptor_variant,,ENST00000504415,;ANK2,splice_acceptor_variant,,ENST00000508007,;							HIGH	10757/11874		ANK2_HUMAN			Transcript			.	ENSP00000349588		CCDS3702.1			1	
TMEM25	0	LGGM	GRCh37	11	118403848	118403848	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	7	9	.	.	ENST00000313236.5:c.599G>T	p.Arg200Leu	p.R200L	ENST00000313236	NM_032780.3	200	cGc/cTc	0	1	1	UPI000000D9FB	0	NA	ENST00000313236		ENSG00000149582	25890		16	0		HGNC	p.R200L		TMEM25		SNV							ENST00000313236	protein_coding	getma.org/?cm=var&var=hg19,11,118403848,G,T&fts=all		hmmpanther:PTHR12035,Gene3D:2.60.40.10		R/L		T	neutral	652/2409		getma.org/?cm=msa&ty=f&p=TMM25_HUMAN&rb=119&re=318&var=R200L	deleterious(0.03)	E9PI73_HUMAN			YES	TMEM25,missense_variant,p.Arg200Leu,ENST00000524725,;TMEM25,missense_variant,p.Arg200Leu,ENST00000411589,;TMEM25,missense_variant,p.Arg200Leu,ENST00000313236,NM_032780.3;TMEM25,missense_variant,p.Arg200Leu,ENST00000359862,NM_001144035.1,NM_001144034.1;TMEM25,missense_variant,p.Arg200Leu,ENST00000442938,NM_001144038.1;TMEM25,missense_variant,p.Arg96Leu,ENST00000354064,NM_001144036.1;TMEM25,missense_variant,p.Arg200Leu,ENST00000354284,NM_001144037.1;TMEM25,missense_variant,p.Arg200Leu,ENST00000533102,;TMEM25,missense_variant,p.Arg35Leu,ENST00000526853,;TMEM25,missense_variant,p.Arg84Leu,ENST00000526973,;TMEM25,missense_variant,p.Arg168Leu,ENST00000533137,;TMEM25,intron_variant,,ENST00000544878,;TMEM25,intron_variant,,ENST00000528373,;TMEM25,intron_variant,,ENST00000532762,;TTC36,downstream_gene_variant,,ENST00000539546,;TTC36,downstream_gene_variant,,ENST00000302783,NM_001080441.1;TMEM25,downstream_gene_variant,,ENST00000527267,;TMEM25,downstream_gene_variant,,ENST00000533689,;RP11-770J1.3,upstream_gene_variant,,ENST00000554407,;RP11-770J1.3,upstream_gene_variant,,ENST00000525992,;RP11-770J1.3,upstream_gene_variant,,ENST00000528578,;RP11-770J1.3,upstream_gene_variant,,ENST00000532597,;RP11-770J1.3,upstream_gene_variant,,ENST00000556583,;TMEM25,non_coding_transcript_exon_variant,,ENST00000529001,;TMEM25,non_coding_transcript_exon_variant,,ENST00000533587,;TMEM25,non_coding_transcript_exon_variant,,ENST00000528934,;TMEM25,downstream_gene_variant,,ENST00000532749,;TMEM25,downstream_gene_variant,,ENST00000530423,;TMEM25,downstream_gene_variant,,ENST00000525129,;TMEM25,3_prime_UTR_variant,,ENST00000534181,;TMEM25,non_coding_transcript_exon_variant,,ENST00000533627,;TMEM25,non_coding_transcript_exon_variant,,ENST00000524522,;TMEM25,non_coding_transcript_exon_variant,,ENST00000531494,;TTC36,downstream_gene_variant,,ENST00000528570,;TTC36,downstream_gene_variant,,ENST00000533501,;TMEM25,downstream_gene_variant,,ENST00000527785,;TMEM25,downstream_gene_variant,,ENST00000525298,;TMEM25,downstream_gene_variant,,ENST00000526941,;TMEM25,downstream_gene_variant,,ENST00000525118,;TMEM25,downstream_gene_variant,,ENST00000529176,;							MODERATE	599/1101	R200L	TMM25_HUMAN			Transcript		benign(0.099)	.	ENSP00000315635		CCDS8398.1			1	
BRIP1	0	LGGM	GRCh37	17	59861637	59861637	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	131	9	.	.	ENST00000259008.2:c.1622A>G	p.Asn541Ser	p.N541S	ENST00000259008	NM_032043.2	541	aAt/aGt	0	1	1	UPI000013D01F	0	NA	ENST00000259008		ENSG00000136492	20473		140	1.755		HGNC	p.N541S		BRIP1		SNV			1				ENST00000259008	protein_coding	getma.org/?cm=var&var=hg19,17,59861637,T,C&fts=all		hmmpanther:PTHR11472,hmmpanther:PTHR11472:SF6,TIGRFAM_domain:TIGR00604		N/S		C	low	1890/6048		getma.org/?cm=msa&ty=f&p=FANCJ_HUMAN&rb=416&re=615&var=N541S	tolerated(0.11)	J3KS24_HUMAN			YES	BRIP1,missense_variant,p.Asn541Ser,ENST00000259008,NM_032043.2;BRIP1,missense_variant,p.Asn541Ser,ENST00000577598,;BRIP1,upstream_gene_variant,,ENST00000583837,;BRIP1,missense_variant,p.Asn76Ser,ENST00000579028,;							MODERATE	1622/3750	N541S	FANCJ_HUMAN			Transcript		benign(0.359)	.	ENSP00000259008		CCDS11631.1			1	
MYRFL	0	LGGM	GRCh37	12	70345962	70345962	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	61	9	.	.	ENST00000535034.1:c.382+7T>G		p.X128_splice	ENST00000535034				0	1		UPI00016627C0	0		ENST00000552032		ENSG00000166268	26316		70			HGNC	p.L692W		MYRFL		SNV							ENST00000547771	protein_coding							G		-/3139								MYRFL,splice_region_variant,,ENST00000547771,;MYRFL,splice_region_variant,,ENST00000552032,;MYRFL,splice_region_variant,,ENST00000548892,;MYRFL,splice_region_variant,,ENST00000299350,;MYRFL,splice_region_variant,,ENST00000535034,;RP11-611E13.2,intron_variant,,ENST00000549419,;							LOW	-/2733		MRFL_HUMAN			Transcript			.	ENSP00000448753					1	
CLDND1	0	LGGM	GRCh37	3	98237815	98237815	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	20	9	.	.	ENST00000437922.1:c.386G>C	p.Cys129Ser	p.C129S	ENST00000437922	NM_001040182.1	129	tGt/tCt	0	1		UPI0000001074	0	NA	ENST00000341181		ENSG00000080822	1322		29	2.175		HGNC	p.C84S		CLDND1		SNV							ENST00000511667	protein_coding	getma.org/?cm=var&var=hg19,3,98237815,C,G&fts=all		Pfam_domain:PF13903,hmmpanther:PTHR14347		C/S		G	medium	530/2161		getma.org/?cm=msa&ty=f&p=CLDN1_HUMAN&rb=17&re=235&var=C106S	deleterious(0)	D6RIU2_HUMAN,D6RHU6_HUMAN,D6RFX6_HUMAN,D6RDY1_HUMAN,D6RDP6_HUMAN,D6RDI6_HUMAN,D6RD48_HUMAN,D6RCR8_HUMAN,D6RCP3_HUMAN,D6RCE6_HUMAN,D6RB31_HUMAN,D6RA76_HUMAN,D6R9S8_HUMAN				CLDND1,missense_variant,p.Cys106Ser,ENST00000503004,;CLDND1,missense_variant,p.Cys106Ser,ENST00000394180,NM_019895.2;CLDND1,missense_variant,p.Cys129Ser,ENST00000437922,NM_001040182.1;CLDND1,missense_variant,p.Cys106Ser,ENST00000394181,;CLDND1,missense_variant,p.Cys106Ser,ENST00000341181,NM_001040183.1,NM_001040181.1,NM_001040199.1;CLDND1,missense_variant,p.Cys106Ser,ENST00000394185,;CLDND1,missense_variant,p.Cys106Ser,ENST00000510545,;CLDND1,missense_variant,p.Cys106Ser,ENST00000507874,;CLDND1,missense_variant,p.Cys106Ser,ENST00000514537,;CLDND1,missense_variant,p.Cys106Ser,ENST00000513287,;CLDND1,missense_variant,p.Cys106Ser,ENST00000508902,;CLDND1,missense_variant,p.Cys106Ser,ENST00000507944,;CLDND1,missense_variant,p.Cys84Ser,ENST00000511667,;CLDND1,missense_variant,p.Cys106Ser,ENST00000502299,;CLDND1,missense_variant,p.Cys106Ser,ENST00000513452,;CLDND1,missense_variant,p.Cys59Ser,ENST00000506885,;CLDND1,missense_variant,p.Cys106Ser,ENST00000508659,;CLDND1,missense_variant,p.Cys106Ser,ENST00000515620,;CLDND1,missense_variant,p.Cys11Ser,ENST00000511081,NM_001040200.1;CLDND1,missense_variant,p.Cys11Ser,ENST00000502288,;CLDND1,missense_variant,p.Cys106Ser,ENST00000508071,;CLDND1,missense_variant,p.Cys84Ser,ENST00000503621,;CLDND1,5_prime_UTR_variant,,ENST00000512147,;CLDND1,5_prime_UTR_variant,,ENST00000510541,;CLDND1,upstream_gene_variant,,ENST00000513873,;CLDND1,downstream_gene_variant,,ENST00000506575,;RP11-227H4.5,upstream_gene_variant,,ENST00000502999,;CLDND1,non_coding_transcript_exon_variant,,ENST00000508503,;CLDND1,3_prime_UTR_variant,,ENST00000503799,;CLDND1,non_coding_transcript_exon_variant,,ENST00000507411,;CLDND1,non_coding_transcript_exon_variant,,ENST00000513988,;CLDND1,downstream_gene_variant,,ENST00000502980,;CPOX,downstream_gene_variant,,ENST00000512905,;CLDND1,upstream_gene_variant,,ENST00000506927,;							MODERATE	317/762	C106S	CLDN1_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000340247		CCDS2930.1			1	
KIAA1211	0	LGGM	GRCh37	4	57180265	57180265	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	15	10	.	.	ENST00000504228.1:c.597C>T	p.His199=	p.H199=	ENST00000504228		199	caC/caT	0	1		UPI0000237309	0		ENST00000264229		ENSG00000109265	29219		25			HGNC	p.H199H		KIAA1211		SNV							ENST00000264229	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		H		T		988/4109								KIAA1211,synonymous_variant,p.=,ENST00000504228,;KIAA1211,synonymous_variant,p.=,ENST00000541073,;KIAA1211,synonymous_variant,p.=,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;							LOW	597/3702		K1211_HUMAN			Transcript			.	ENSP00000264229		CCDS43230.1			1	
ANAPC2	0	LGGM	GRCh37	9	140074680	140074680	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	10	.	.	ENST00000323927.2:c.1843A>G	p.Ile615Val	p.I615V	ENST00000323927	NM_013366.3	615	Atc/Gtc	0	1	1	UPI0000043E1B	0	getma.org/pdb.php?prot=ANC2_HUMAN&from=354&to=735&var=I615V	ENST00000323927		ENSG00000176248	19989		29	0.21		HGNC	p.I615V		ANAPC2		SNV							ENST00000323927	protein_coding	getma.org/?cm=var&var=hg19,9,140074680,T,C&fts=all		PROSITE_profiles:PS50069,hmmpanther:PTHR11932,hmmpanther:PTHR11932:SF5,Gene3D:1ldjA05,Pfam_domain:PF00888,SMART_domains:SM00182,Superfamily_domains:SSF75632		I/V		C	neutral	1848/2632		getma.org/?cm=msa&ty=f&p=ANC2_HUMAN&rb=354&re=735&var=I615V	tolerated(1)	B4DJR9_HUMAN			YES	ANAPC2,missense_variant,p.Ile615Val,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,;							MODERATE	1843/2469	I615V	ANC2_HUMAN			Transcript		benign(0.015)	.	ENSP00000314004		CCDS7033.1			1	
TPO	0	LGGM	GRCh37	2	1507846	1507846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	16	10	.	.	ENST00000345913.4:c.2513G>A	p.Cys838Tyr	p.C838Y	ENST00000345913	NM_000547.5	838	tGc/tAc	0	1		UPI000013D480	0	NA	ENST00000329066		ENSG00000115705	12015		26	3.745		HGNC	p.C838Y		TPO		SNV			1				ENST00000345913	protein_coding	getma.org/?cm=var&var=hg19,2,1507846,G,A&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		C/Y		A	high	2596/3138		getma.org/?cm=msa&ty=f&p=PERT_HUMAN&rb=796&re=838&var=C838Y	deleterious(0.01)	Q53QT2_HUMAN,C9J511_HUMAN				TPO,missense_variant,p.Cys838Tyr,ENST00000345913,NM_000547.5;TPO,missense_variant,p.Cys838Tyr,ENST00000329066,NM_001206744.1;TPO,missense_variant,p.Cys838Tyr,ENST00000337415,;TPO,missense_variant,p.Cys781Tyr,ENST00000382201,NM_001206745.1,NM_175719.3;TPO,missense_variant,p.Cys665Tyr,ENST00000349624,;TPO,missense_variant,p.Cys665Tyr,ENST00000382198,NM_175722.3;TPO,missense_variant,p.Cys313Tyr,ENST00000446278,;TPO,missense_variant,p.Cys59Tyr,ENST00000425083,;TPO,intron_variant,,ENST00000422464,;TPO,intron_variant,,ENST00000346956,NM_175721.3;TPO,intron_variant,,ENST00000469607,;TPO,non_coding_transcript_exon_variant,,ENST00000497517,;TPO,intron_variant,,ENST00000462973,;							MODERATE	2513/2802	C838Y	PERT_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000329869		CCDS1643.1			1	
PPP1R15A	0	LGGM	GRCh37	19	49379168	49379168	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	54	10	.	.	ENST00000200453.5:c.1963A>G	p.Thr655Ala	p.T655A	ENST00000200453	NM_014330.3	655	Aca/Gca	0	1	1	UPI000006F652	0	NA	ENST00000200453		ENSG00000087074	14375		64	0.695		HGNC	p.T655A		PPP1R15A		SNV							ENST00000200453	protein_coding	getma.org/?cm=var&var=hg19,19,49379168,A,G&fts=all		Low_complexity_(Seg):seg		T/A		G	neutral	2232/2378		getma.org/?cm=msa&ty=f&p=PR15A_HUMAN&rb=620&re=674&var=T655A	tolerated(0.14)				YES	PPP1R15A,missense_variant,p.Thr655Ala,ENST00000200453,NM_014330.3;PPP1R15A,3_prime_UTR_variant,,ENST00000600406,;							MODERATE	1963/2025	T655A	PR15A_HUMAN			Transcript		unknown(0)	.	ENSP00000200453		CCDS12738.1			1	
STAB2	0	LGGM	GRCh37	12	104131548	104131548	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	13	10	.	.	ENST00000388887.2:c.5687T>C	p.Phe1896Ser	p.F1896S	ENST00000388887	NM_017564.9	1896	tTc/tCc	0	1	1	UPI00001ADDF4	0	NA	ENST00000388887		ENSG00000136011	18629		23	1.63		HGNC	p.F1896S		STAB2		SNV							ENST00000388887	protein_coding	getma.org/?cm=var&var=hg19,12,104131548,T,C&fts=all		hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038		F/S		C	low	5891/8251		getma.org/?cm=msa&ty=f&p=STAB2_HUMAN&rb=1884&re=2083&var=F1896S	tolerated(0.17)	H0YIF3_HUMAN			YES	STAB2,missense_variant,p.Phe1896Ser,ENST00000388887,NM_017564.9;							MODERATE	5687/7656	F1896S	STAB2_HUMAN			Transcript		benign(0.031)	.	ENSP00000373539		CCDS31888.1			1	
ADCK2	0	LGGM	GRCh37	7	140386919	140386919	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	11	11	.	.	ENST00000072869.4:c.1435G>T	p.Ala479Ser	p.A479S	ENST00000072869	NM_052853.3	479	Gcc/Tcc	0	1	1	UPI000003C962	0	NA	ENST00000072869		ENSG00000133597	19039		22	-0.46		HGNC	p.A479S		ADCK2		SNV							ENST00000476491	protein_coding	getma.org/?cm=var&var=hg19,7,140386919,G,T&fts=all		hmmpanther:PTHR10566,hmmpanther:PTHR10566:SF6		A/S		T	neutral	1613/2377		getma.org/?cm=msa&ty=f&p=ADCK2_HUMAN&rb=200&re=618&var=A479S	tolerated(0.78)	A4D1T6_HUMAN			YES	ADCK2,missense_variant,p.Ala479Ser,ENST00000072869,NM_052853.3;ADCK2,missense_variant,p.Ala479Ser,ENST00000476491,;ADCK2,missense_variant,p.Ala317Ser,ENST00000483369,;ADCK2,missense_variant,p.Ala119Ser,ENST00000473512,;NDUFB2,upstream_gene_variant,,ENST00000482954,;ADCK2,non_coding_transcript_exon_variant,,ENST00000498423,;							MODERATE	1435/1881	A479S	ADCK2_HUMAN			Transcript		benign(0.003)	.	ENSP00000072869		CCDS5861.1			1	
ZNF85	0	LGGM	GRCh37	19	21132544	21132544	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	11	.	.	ENST00000328178.8:c.1224A>G	p.Lys408=	p.K408=	ENST00000328178	NM_003429.4	408	aaA/aaG	0	1	1	UPI0000203897	0		ENST00000328178		ENSG00000105750	13160		30			HGNC	p.K408K		ZNF85		SNV							ENST00000328178	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF88,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		K		G		1337/2296				M0R385_HUMAN,M0R120_HUMAN,M0QZN6_HUMAN			YES	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,downstream_gene_variant,,ENST00000599064,;ZNF85,downstream_gene_variant,,ENST00000595742,;ZNF85,downstream_gene_variant,,ENST00000598862,;ZNF85,downstream_gene_variant,,ENST00000597314,;ZNF85,downstream_gene_variant,,ENST00000595854,;ZNF85,downstream_gene_variant,,ENST00000599885,;ZNF85,downstream_gene_variant,,ENST00000601924,;ZNF85,downstream_gene_variant,,ENST00000601284,;							LOW	1224/1788		ZNF85_HUMAN			Transcript			.	ENSP00000329793		CCDS32977.1			1	
GCKR	0	LGGM	GRCh37	2	27720244	27720244	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	27	12	.	.	ENST00000264717.2:c.194G>A	p.Gly65Glu	p.G65E	ENST00000264717	NM_001486.3	65	gGg/gAg	0	1	1	UPI000013D55B	0	getma.org/pdb.php?prot=GCKR_HUMAN&from=1&to=200&var=G65E	ENST00000264717		ENSG00000084734	4196		39	1.245		HGNC	p.G37E		GCKR		SNV			1				ENST00000453813	protein_coding	getma.org/?cm=var&var=hg19,2,27720244,G,A&fts=all		hmmpanther:PTHR10088,Gene3D:3.40.50.10490,Superfamily_domains:SSF53697		G/E		A	low	257/2186		getma.org/?cm=msa&ty=f&p=GCKR_HUMAN&rb=1&re=200&var=G65E	tolerated(0.3)	F5H1P6_HUMAN			YES	GCKR,missense_variant,p.Gly65Glu,ENST00000264717,NM_001486.3;GCKR,missense_variant,p.Gly37Glu,ENST00000453813,;GCKR,5_prime_UTR_variant,,ENST00000424318,;FNDC4,upstream_gene_variant,,ENST00000264703,NM_022823.2;GCKR,missense_variant,p.Gly65Glu,ENST00000417872,;GCKR,non_coding_transcript_exon_variant,,ENST00000472290,;FNDC4,upstream_gene_variant,,ENST00000491414,;FNDC4,upstream_gene_variant,,ENST00000476197,;							MODERATE	194/1878	G65E	GCKR_HUMAN			Transcript		benign(0.311)	.	ENSP00000264717		CCDS1757.1			1	
ATXN2	0	LGGM	GRCh37	12	111951301	111951301	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	12	.	.	ENST00000377617.3:c.1898A>G	p.Asn633Ser	p.N633S	ENST00000377617	NM_002973.3	633	aAt/aGt	0	1	1	UPI0000DBEEFC	0	NA	ENST00000377617		ENSG00000204842	10555		31	0.345		HGNC	p.I17V		ATXN2		SNV			1				ENST00000481331	protein_coding	getma.org/?cm=var&var=hg19,12,111951301,T,C&fts=all		hmmpanther:PTHR12854,hmmpanther:PTHR12854:SF11		N/S		C	neutral	2060/4702		getma.org/?cm=msa&ty=f&p=ATX2_HUMAN&rb=478&re=677&var=N633S		D2CTA6_HUMAN,D2CTA5_HUMAN,D2CTA3_HUMAN			YES	ATXN2,missense_variant,p.Asn633Ser,ENST00000377617,NM_002973.3;ATXN2,missense_variant,p.Asn633Ser,ENST00000550104,;ATXN2,missense_variant,p.Asn473Ser,ENST00000608853,;ATXN2,missense_variant,p.Asn368Ser,ENST00000389153,;ATXN2,missense_variant,p.Asn368Ser,ENST00000542287,;ATXN2,missense_variant,p.Asn344Ser,ENST00000535949,;ATXN2,missense_variant,p.Asn77Ser,ENST00000492467,;ATXN2,missense_variant,p.Asn162Ser,ENST00000550236,;ATXN2,non_coding_transcript_exon_variant,,ENST00000481331,;ATXN2,missense_variant,p.Asn554Ser,ENST00000483311,;ATXN2,non_coding_transcript_exon_variant,,ENST00000392645,;ATXN2,upstream_gene_variant,,ENST00000546483,;							MODERATE	1898/3942	N633S	ATX2_HUMAN			Transcript		benign(0.004)	.	ENSP00000366843		CCDS31902.1			1	
CDCA7	0	LGGM	GRCh37	2	174228135	174228135	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	22	12	.	.	ENST00000306721.3:c.566G>A	p.Ser189Asn	p.S189N	ENST00000306721	NM_031942.4	189	aGt/aAt	0	1		UPI000006F0C1	0	NA	ENST00000347703		ENSG00000144354	14628		34	-0.205		HGNC	p.S145N		CDCA7		SNV							ENST00000410101	protein_coding	getma.org/?cm=var&var=hg19,2,174228135,G,A&fts=all		hmmpanther:PTHR31169,hmmpanther:PTHR31169:SF2		S/N		A	neutral	473/2500		getma.org/?cm=msa&ty=f&p=CDCA7_HUMAN&rb=48&re=247&var=S110N	tolerated(0.38)	B4DM13_HUMAN				CDCA7,missense_variant,p.Ser189Asn,ENST00000306721,NM_031942.4;CDCA7,missense_variant,p.Ser110Asn,ENST00000347703,NM_145810.2;CDCA7,missense_variant,p.Ser110Asn,ENST00000392567,;CDCA7,missense_variant,p.Ser68Asn,ENST00000410019,;CDCA7,missense_variant,p.Ser145Asn,ENST00000410101,;CDCA7,3_prime_UTR_variant,,ENST00000435616,;CDCA7,non_coding_transcript_exon_variant,,ENST00000467411,;CDCA7,non_coding_transcript_exon_variant,,ENST00000496441,;CDCA7,non_coding_transcript_exon_variant,,ENST00000468359,;							MODERATE	329/1116	S110N	CDCA7_HUMAN			Transcript		benign(0.001)	.	ENSP00000272789		CCDS2253.1			1	
RBM5	0	LGGM	GRCh37	3	50148146	50148146	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	27	12	.	.	ENST00000347869.3:c.1398A>G	p.Glu466=	p.E466=	ENST00000347869	NM_005778.3	466	gaA/gaG	0	1	1	UPI000013337C	0		ENST00000347869		ENSG00000003756	9902		39			HGNC	p.E466E		RBM5		SNV							ENST00000347869	protein_coding			hmmpanther:PTHR13948,hmmpanther:PTHR13948:SF21		E		G		1573/3188				C9JR02_HUMAN,C9JFQ5_HUMAN,C9J9P7_HUMAN			YES	RBM5,synonymous_variant,p.=,ENST00000347869,NM_005778.3;RBM5,non_coding_transcript_exon_variant,,ENST00000441812,;RBM5,upstream_gene_variant,,ENST00000474470,;RBM5,non_coding_transcript_exon_variant,,ENST00000464087,;RBM5,non_coding_transcript_exon_variant,,ENST00000474818,;RBM5,non_coding_transcript_exon_variant,,ENST00000489437,;RBM5,upstream_gene_variant,,ENST00000479275,;RBM5,downstream_gene_variant,,ENST00000496179,;RBM5,upstream_gene_variant,,ENST00000475128,;RBM5,downstream_gene_variant,,ENST00000395174,;RBM5,upstream_gene_variant,,ENST00000464988,;RBM5,downstream_gene_variant,,ENST00000471995,;RBM5,upstream_gene_variant,,ENST00000475590,;RBM5,downstream_gene_variant,,ENST00000494360,;RBM5,upstream_gene_variant,,ENST00000492430,;RBM5,upstream_gene_variant,,ENST00000493993,;							LOW	1398/2448		RBM5_HUMAN			Transcript			.	ENSP00000343054		CCDS2810.1			1	
CUZD1	0	LGGM	GRCh37	10	124593441	124593441	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	12	12	.	.	ENST00000368904.1:c.1398A>T	p.Glu466Asp	p.E466D	ENST00000368904		466	gaA/gaT	0	1	1	UPI000004C655	0	NA	ENST00000368904		ENSG00000138161	17937		24	0.34		HGNC	p.E185D		CUZD1		SNV							ENST00000368899	protein_coding	getma.org/?cm=var&var=hg19,10,124593441,T,A&fts=all		SMART_domains:SM00241,Pfam_domain:PF00100,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF608,PROSITE_profiles:PS51034		E/D		A	neutral	2348/2903		getma.org/?cm=msa&ty=f&p=CUZD1_HUMAN&rb=276&re=519&var=E466D	tolerated(1)				YES	CUZD1,missense_variant,p.Glu466Asp,ENST00000368904,;CUZD1,missense_variant,p.Glu466Asp,ENST00000545804,;CUZD1,missense_variant,p.Glu466Asp,ENST00000392790,NM_022034.5;CUZD1,3_prime_UTR_variant,,ENST00000368901,;CUZD1,3_prime_UTR_variant,,ENST00000368900,;CUZD1,3_prime_UTR_variant,,ENST00000338948,;CUZD1,non_coding_transcript_exon_variant,,ENST00000368899,;							MODERATE	1398/1824	E466D	CUZD1_HUMAN			Transcript		benign(0.007)	.	ENSP00000357900		CCDS7631.1			1	
MAP1A	0	LGGM	GRCh37	15	43816403	43816403	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	16	12	.	.	ENST00000300231.5:c.2732C>T	p.Pro911Leu	p.P911L	ENST00000300231		911	cCc/cTc	0	1	1	UPI000013E63C	0	NA	ENST00000300231		ENSG00000166963	6835		28	2.485		HGNC	p.P911L		MAP1A		SNV							ENST00000399453	protein_coding	getma.org/?cm=var&var=hg19,15,43816403,C,T&fts=all		hmmpanther:PTHR13843:SF6,hmmpanther:PTHR13843		P/L		T	medium	3182/10258		getma.org/?cm=msa&ty=f&p=MAP1A_HUMAN&rb=633&re=1392&var=P911L					YES	MAP1A,missense_variant,p.Pro1149Leu,ENST00000382031,;MAP1A,missense_variant,p.Pro911Leu,ENST00000399453,NM_002373.5;MAP1A,missense_variant,p.Pro911Leu,ENST00000300231,;							MODERATE	2732/8412	P911L	MAP1A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000300231		CCDS42031.1			1	
CYP2E1	0	LGGM	GRCh37	10	135345742	135345742	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	47	13	.	.	ENST00000463117.2:c.602A>G	p.Tyr201Cys	p.Y201C	ENST00000463117		201	tAt/tGt	0	1		UPI0000128291	0	getma.org/pdb.php?prot=CP2E1_HUMAN&from=33&to=489&var=Y201C	ENST00000252945		ENSG00000130649	2631		60	0.205		HGNC	p.Y64C		CYP2E1		SNV							ENST00000418356	protein_coding	getma.org/?cm=var&var=hg19,10,135345742,A,G&fts=all		hmmpanther:PTHR24300:SF19,hmmpanther:PTHR24300,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		Y/C		G	neutral	635/1667		getma.org/?cm=msa&ty=f&p=CP2E1_HUMAN&rb=33&re=489&var=Y201C	deleterious(0.02)	Q4LBD0_HUMAN,F5H694_HUMAN				CYP2E1,missense_variant,p.Tyr201Cys,ENST00000463117,;CYP2E1,missense_variant,p.Tyr201Cys,ENST00000252945,NM_000773.3;CYP2E1,missense_variant,p.Tyr114Cys,ENST00000421586,;CYP2E1,missense_variant,p.Tyr64Cys,ENST00000418356,;SPRN,intron_variant,,ENST00000541506,;CYP2E1,downstream_gene_variant,,ENST00000541261,;AL161645.2,upstream_gene_variant,,ENST00000599428,;CYP2E1,intron_variant,,ENST00000477500,;CYP2E1,downstream_gene_variant,,ENST00000480558,;CYP2E1,non_coding_transcript_exon_variant,,ENST00000368520,;CYP2E1,intron_variant,,ENST00000541080,;							MODERATE	602/1482	Y201C	CP2E1_HUMAN			Transcript		possibly_damaging(0.736)	.	ENSP00000252945		CCDS7686.1			1	
SUPT5H	0	LGGM	GRCh37	19	39963852	39963852	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	14	13	.	.	ENST00000599117.1:c.2268G>A	p.Arg756=	p.R756=	ENST00000599117		756	cgG/cgA	0	1		UPI000006D81A	0		ENST00000432763		ENSG00000196235	11469		27			HGNC	p.R756R		SUPT5H		SNV							ENST00000598725	protein_coding			hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945		R		A		2447/3710				M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN				SUPT5H,synonymous_variant,p.=,ENST00000599117,;SUPT5H,synonymous_variant,p.=,ENST00000359191,;SUPT5H,synonymous_variant,p.=,ENST00000598725,NM_003169.3;SUPT5H,synonymous_variant,p.=,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,synonymous_variant,p.=,ENST00000402194,NM_001130825.1;SUPT5H,non_coding_transcript_exon_variant,,ENST00000599335,;SUPT5H,downstream_gene_variant,,ENST00000598117,;SUPT5H,upstream_gene_variant,,ENST00000600818,;SUPT5H,downstream_gene_variant,,ENST00000596208,;							LOW	2268/3264		SPT5H_HUMAN			Transcript			.	ENSP00000404029		CCDS12536.1			1	
SIDT1	0	LGGM	GRCh37	3	113295812	113295812	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	107	13	.	.	ENST00000264852.4:c.559C>G	p.Gln187Glu	p.Q187E	ENST00000264852	NM_017699.2	187	Cag/Gag	0	1	1	UPI000013D581	0	NA	ENST00000264852		ENSG00000072858	25967		120	2.505		HGNC	p.Q187E		SIDT1		SNV							ENST00000393830	protein_coding	getma.org/?cm=var&var=hg19,3,113295812,C,G&fts=all		Pfam_domain:PF13965,hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15		Q/E		G	medium	1285/5080		getma.org/?cm=msa&ty=f&p=SIDT1_HUMAN&rb=184&re=827&var=Q187E	tolerated(0.1)	B4E0H9_HUMAN			YES	SIDT1,missense_variant,p.Gln187Glu,ENST00000264852,NM_017699.2;SIDT1,missense_variant,p.Gln187Glu,ENST00000393830,;SIDT1,splice_region_variant,,ENST00000491730,;							MODERATE	559/2484	Q187E	SIDT1_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000264852		CCDS2974.1			1	
PHYKPL	0	LGGM	GRCh37	5	177649376	177649376	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	15	13	.	.	ENST00000308158.5:c.907G>A	p.Gly303Ser	p.G303S	ENST00000308158	NM_001278346.1	303	Ggc/Agc	0	1	1	UPI00000746D3	0	getma.org/pdb.php?prot=AT2L2_HUMAN&from=33&to=373&var=G303S	ENST00000308158		ENSG00000175309	28249		28	1.675		HGNC	p.G303S	rs367908733	PHYKPL	6.29E-05	SNV			1	9.75E-05			ENST00000308158	protein_coding	getma.org/?cm=var&var=hg19,5,177649376,C,T&fts=all	T:0.0008	Gene3D:3.40.640.10,Pfam_domain:PF00202,PIRSF_domain:PIRSF000521,hmmpanther:PTHR11986,hmmpanther:PTHR11986:SF52,Superfamily_domains:SSF53383		G/S		T	low	1142/2038	0.00044	getma.org/?cm=msa&ty=f&p=AT2L2_HUMAN&rb=33&re=373&var=G303S	deleterious(0.01)	H0YAK5_HUMAN	T:0	T:0	YES	PHYKPL,missense_variant,p.Gly303Ser,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.Gly35Ser,ENST00000393488,;PHYKPL,3_prime_UTR_variant,,ENST00000493197,;PHYKPL,3_prime_UTR_variant,,ENST00000474052,;PHYKPL,3_prime_UTR_variant,,ENST00000506045,;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,downstream_gene_variant,,ENST00000510913,;PHYKPL,downstream_gene_variant,,ENST00000504096,;PHYKPL,downstream_gene_variant,,ENST00000514424,;PHYKPL,downstream_gene_variant,,ENST00000506001,;	0.000116	T:0.0002					MODERATE	907/1353	G303S	AT2L2_HUMAN		T:0	Transcript		possibly_damaging(0.586)	common_variant	ENSP00000310978	0.000264	CCDS4434.1		T:0	1	
ERH	0	LGGM	GRCh37	14	69847312	69847312	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	32	13	.	.	ENST00000557016.1:c.258G>T	p.Trp86Cys	p.W86C	ENST00000557016	NM_004450.2	86	tgG/tgT	0	1	1	UPI0000000284	0	getma.org/pdb.php?prot=ERH_HUMAN&from=1&to=103&var=W86C	ENST00000557016		ENSG00000100632	3447		45	3.5		HGNC	p.W86C		ERH		SNV							ENST00000557016	protein_coding	getma.org/?cm=var&var=hg19,14,69847312,C,A&fts=all		hmmpanther:PTHR12373,hmmpanther:PTHR12373:SF1,Pfam_domain:PF01133,PIRSF_domain:PIRSF016393,Superfamily_domains:0053200		W/C		A	medium	652/1116		getma.org/?cm=msa&ty=f&p=ERH_HUMAN&rb=1&re=103&var=W86C	tolerated(0.07)	G3V279_HUMAN			YES	ERH,missense_variant,p.Trp86Cys,ENST00000557016,NM_004450.2;ERH,non_coding_transcript_exon_variant,,ENST00000216520,;ERH,non_coding_transcript_exon_variant,,ENST00000557697,;							MODERATE	258/315	W86C	ERH_HUMAN			Transcript		possibly_damaging(0.648)	.	ENSP00000451080		CCDS9794.1			1	
SECISBP2L	0	LGGM	GRCh37	15	49285062	49285062	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	59	14	.	.	ENST00000559471.1:c.2685A>G	p.Lys895=	p.K895=	ENST00000559471	NM_001193489.1	895	aaA/aaG	0	1	1	UPI00001C1F8B	0		ENST00000559471		ENSG00000138593	28997		73			HGNC	p.K850K		SECISBP2L		SNV							ENST00000261847	protein_coding			hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10		K		C		2949/7176				J3KPI1_HUMAN			YES	SECISBP2L,synonymous_variant,p.=,ENST00000559471,NM_001193489.1;SECISBP2L,synonymous_variant,p.=,ENST00000261847,NM_014701.3;SECISBP2L,synonymous_variant,p.=,ENST00000561428,;SECISBP2L,downstream_gene_variant,,ENST00000380927,;Y_RNA,downstream_gene_variant,,ENST00000384377,;							LOW	2685/3306		SBP2L_HUMAN			Transcript			.	ENSP00000453854		CCDS53942.1			1	
MRPL15	0	LGGM	GRCh37	8	55060135	55060135	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	37	14	.	.	ENST00000260102.4:c.747A>C	p.Lys249Asn	p.K249N	ENST00000260102	NM_014175.3	249	aaA/aaC	0	1	1	UPI0000035FCA	0	NA	ENST00000260102		ENSG00000137547	14054		51	1.89		HGNC	p.K249N		MRPL15		SNV							ENST00000260102	protein_coding	getma.org/?cm=var&var=hg19,8,55060135,A,C&fts=all		hmmpanther:PTHR12934		K/N		C	low	821/1147		getma.org/?cm=msa&ty=f&p=RM15_HUMAN&rb=178&re=296&var=K249N	tolerated(0.16)	E5RIZ4_HUMAN			YES	MRPL15,missense_variant,p.Lys249Asn,ENST00000260102,NM_014175.3;MRPL15,downstream_gene_variant,,ENST00000519831,;MRPL15,missense_variant,p.Lys46Asn,ENST00000522521,;							MODERATE	747/891	K249N	RM15_HUMAN			Transcript		benign(0.015)	.	ENSP00000260102		CCDS6158.1			1	
PSMB6	0	LGGM	GRCh37	17	4701016	4701016	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	15	14	.	.	ENST00000270586.3:c.342C>G	p.Ala114=	p.A114=	ENST00000270586	NM_002798.2	114	gcC/gcG	0	1	1	UPI00001325C3	0		ENST00000270586		ENSG00000142507	9543		29			HGNC	p.Q100E		PSMB6		SNV							ENST00000571309	protein_coding			PROSITE_profiles:PS51476,hmmpanther:PTHR11599:SF46,hmmpanther:PTHR11599,Pfam_domain:PF00227,Gene3D:3.60.20.10,Superfamily_domains:SSF56235		A		G		393/844				Q6IAT9_HUMAN			YES	PSMB6,synonymous_variant,p.=,ENST00000270586,NM_002798.2,NM_001270481.1;RP11-81A22.5,downstream_gene_variant,,ENST00000571067,;PSMB6,missense_variant,p.Gln100Glu,ENST00000571309,;PSMB6,non_coding_transcript_exon_variant,,ENST00000575643,;PSMB6,downstream_gene_variant,,ENST00000575079,;							LOW	342/720		PSB6_HUMAN			Transcript			.	ENSP00000270586		CCDS11056.1			1	
FRMPD1	0	LGGM	GRCh37	9	37740707	37740707	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	14	14	.	.	ENST00000539465.1:c.2182T>C	p.Ser728Pro	p.S728P	ENST00000539465		728	Tcc/Ccc	0	1		UPI000013D2CC	0	NA	ENST00000377765		ENSG00000070601	29159		28	0.895		HGNC	p.S728P		FRMPD1		SNV							ENST00000539465	protein_coding	getma.org/?cm=var&var=hg19,9,37740707,T,C&fts=all		hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		S/P		C	low	2281/4971		getma.org/?cm=msa&ty=f&p=FRPD1_HUMAN&rb=512&re=954&var=S728P	tolerated(0.2)	F5H0G3_HUMAN				FRMPD1,missense_variant,p.Ser728Pro,ENST00000539465,;FRMPD1,missense_variant,p.Ser728Pro,ENST00000377765,NM_014907.2;FRMPD1,missense_variant,p.Ser550Pro,ENST00000536622,;FRMPD1,missense_variant,p.Ser597Pro,ENST00000541302,;RP11-613M10.9,intron_variant,,ENST00000540557,;							MODERATE	2182/4737	S728P	FRPD1_HUMAN			Transcript		benign(0.01)	.	ENSP00000366995		CCDS6612.1			1	
RNASE7	0	LGGM	GRCh37	14	21511285	21511285	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	24	14	.	.	ENST00000298690.4:c.134A>G	p.Gln45Arg	p.Q45R	ENST00000298690	NM_032572.3	45	cAg/cGg	0	1	1	UPI000013E505	0	getma.org/pdb.php?prot=RNAS7_HUMAN&from=32&to=153&var=Q45R	ENST00000298690		ENSG00000165799	19278		38	1.405		HGNC	p.Q45R		RNASE7		SNV							ENST00000481538	protein_coding	getma.org/?cm=var&var=hg19,14,21511285,A,G&fts=all		hmmpanther:PTHR11437:SF25,hmmpanther:PTHR11437,Pfam_domain:PF00074,Gene3D:3.10.130.10,SMART_domains:SM00092,Superfamily_domains:SSF54076		Q/R		G	low	391/1498		getma.org/?cm=msa&ty=f&p=RNAS7_HUMAN&rb=32&re=153&var=Q45R	tolerated(0.09)				YES	RNASE7,missense_variant,p.Gln45Arg,ENST00000298690,NM_032572.3;NDRG2,intron_variant,,ENST00000403829,NM_001282211.1;NDRG2,intron_variant,,ENST00000555026,;RNASE7,missense_variant,p.Gln45Arg,ENST00000481538,;							MODERATE	134/471	Q45R	RNAS7_HUMAN			Transcript		benign(0.328)	.	ENSP00000298690		CCDS41914.1			1	
HMCN1	0	LGGM	GRCh37	1	186094844	186094844	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	48	15	.	.	ENST00000271588.4:c.12608A>C	p.Lys4203Thr	p.K4203T	ENST00000271588	NM_031935.2	4203	aAa/aCa	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4169&to=4256&var=K4203T	ENST00000271588		ENSG00000143341	19194		63	0.45		HGNC	p.K4203T		HMCN1		SNV			1				ENST00000367492	protein_coding	getma.org/?cm=var&var=hg19,1,186094844,A,C&fts=all		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		K/T		C	neutral	12837/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4169&re=4256&var=K4203T					YES	HMCN1,missense_variant,p.Lys4203Thr,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Lys4203Thr,ENST00000367492,;							MODERATE	12608/16908	K4203T	HMCN1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000271588		CCDS30956.1			1	
DUOX2	0	LGGM	GRCh37	15	45396203	45396203	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	15	.	.	ENST00000603300.1:c.2609A>T	p.Asp870Val	p.D870V	ENST00000603300	NM_014080.4	870	gAt/gTt	0	1	1	UPI000013D775	0	getma.org/pdb.php?prot=DUOX2_HUMAN&from=821&to=884&var=D870V	ENST00000603300		ENSG00000140279	13273		34	3.795		HGNC	p.D870V		DUOX2		SNV			1				ENST00000389039	protein_coding	getma.org/?cm=var&var=hg19,15,45396203,T,A&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53,SMART_domains:SM00054,Superfamily_domains:SSF47473		D/V		A	high	2812/6345		getma.org/?cm=msa&ty=f&p=DUOX2_HUMAN&rb=821&re=884&var=D870V	deleterious(0)	S6B490_HUMAN			YES	DUOX2,missense_variant,p.Asp870Val,ENST00000389039,;DUOX2,missense_variant,p.Asp870Val,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,upstream_gene_variant,,ENST00000558416,;DUOX2,upstream_gene_variant,,ENST00000560797,;							MODERATE	2609/4647	D870V	DUOX2_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000475084		CCDS10117.1			1	
ALDOA	0	LGGM	GRCh37	16	30080249	30080249	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	25	15	.	.	ENST00000395248.1:c.652A>G	p.Ile218Val	p.I218V	ENST00000395248		218	Atc/Gtc	0	1		UPI0000000C5D	0	getma.org/pdb.php?prot=ALDOA_HUMAN&from=15&to=364&var=I164V	ENST00000338110		ENSG00000149925	414		40	1.775		HGNC	p.I109V		ALDOA		SNV			1				ENST00000564688	protein_coding	getma.org/?cm=var&var=hg19,16,30080249,A,G&fts=all		Superfamily_domains:SSF51569,Pfam_domain:PF00274,Gene3D:3.20.20.70,hmmpanther:PTHR11627		I/V		G	low	1577/2384		getma.org/?cm=msa&ty=f&p=ALDOA_HUMAN&rb=15&re=364&var=I164V	tolerated(0.13)	H3BUH7_HUMAN,A4UCS9_HUMAN				ALDOA,missense_variant,p.Ile164Val,ENST00000566897,;ALDOA,missense_variant,p.Ile218Val,ENST00000395248,;ALDOA,missense_variant,p.Ile164Val,ENST00000338110,NM_000034.3;ALDOA,missense_variant,p.Ile164Val,ENST00000564546,;ALDOA,missense_variant,p.Ile218Val,ENST00000564595,NM_001243177.1;ALDOA,missense_variant,p.Ile164Val,ENST00000412304,NM_001127617.2;ALDOA,missense_variant,p.Ile164Val,ENST00000563060,NM_184043.2;ALDOA,missense_variant,p.Ile164Val,ENST00000569798,;ALDOA,missense_variant,p.Ile164Val,ENST00000395240,NM_184041.2;ALDOA,missense_variant,p.Ile164Val,ENST00000569545,;ALDOA,missense_variant,p.Ile218Val,ENST00000562679,;ALDOA,missense_variant,p.Ile153Val,ENST00000562168,;ALDOA,missense_variant,p.Ile109Val,ENST00000564688,;ALDOA,downstream_gene_variant,,ENST00000568435,;ALDOA,downstream_gene_variant,,ENST00000563987,;ALDOA,upstream_gene_variant,,ENST00000565355,;ALDOA,downstream_gene_variant,,ENST00000566846,;ALDOA,downstream_gene_variant,,ENST00000575627,;ALDOA,downstream_gene_variant,,ENST00000566012,;ALDOA,downstream_gene_variant,,ENST00000562240,;ALDOA,non_coding_transcript_exon_variant,,ENST00000564521,;ALDOA,non_coding_transcript_exon_variant,,ENST00000566146,;ALDOA,upstream_gene_variant,,ENST00000566130,;ALDOA,downstream_gene_variant,,ENST00000567555,;ALDOA,downstream_gene_variant,,ENST00000562302,;							MODERATE	490/1095	I164V	ALDOA_HUMAN			Transcript		benign(0.054)	.	ENSP00000336927		CCDS10668.1			1	
PHF12	0	LGGM	GRCh37	17	27234625	27234625	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	28	16	.	.	ENST00000332830.4:c.2524T>A	p.Cys842Ser	p.C842S	ENST00000332830	NM_001033561.1	842	Tgc/Agc	0	1	1	UPI0000197E05	0	NA	ENST00000332830		ENSG00000109118	20816		44	1.895		HGNC	p.C842S		PHF12		SNV							ENST00000332830	protein_coding	getma.org/?cm=var&var=hg19,17,27234625,A,T&fts=all		PROSITE_profiles:PS50006,hmmpanther:PTHR24102:SF16,hmmpanther:PTHR24102,Gene3D:2.60.200.20,Superfamily_domains:SSF49879		C/S		T	low	3335/4759		getma.org/?cm=msa&ty=f&p=PHF12_HUMAN&rb=324&re=1002&var=C842S	deleterious(0.02)	K7ERZ4_HUMAN,K7ENU0_HUMAN,K7EMX6_HUMAN			YES	PHF12,missense_variant,p.Cys842Ser,ENST00000332830,NM_001033561.1;PHF12,3_prime_UTR_variant,,ENST00000577226,;PHF12,downstream_gene_variant,,ENST00000268756,NM_020889.2;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,;							MODERATE	2524/3015	C842S	PHF12_HUMAN			Transcript		possibly_damaging(0.738)	.	ENSP00000329933		CCDS32598.1			1	
AHNAK	0	LGGM	GRCh37	11	62288921	62288921	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	170	16	.	.	ENST00000378024.4:c.12968A>C	p.Lys4323Thr	p.K4323T	ENST00000378024	NM_001620.2	4323	aAa/aCa	0	1	1	UPI00004EC29C	0	NA	ENST00000378024		ENSG00000124942	347		186	3.425		HGNC	p.K4323T		AHNAK		SNV							ENST00000378024	protein_coding	getma.org/?cm=var&var=hg19,11,62288921,T,G&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF40		K/T		G	medium	13243/18787		getma.org/?cm=msa&ty=f&p=AHNK_HUMAN&rb=4201&re=4400&var=K4323T		E9PQE3_HUMAN,E9PLK4_HUMAN,E9PKR9_HUMAN			YES	AHNAK,missense_variant,p.Lys4323Thr,ENST00000378024,NM_001620.2;AHNAK,intron_variant,,ENST00000257247,NM_024060.3;AHNAK,intron_variant,,ENST00000530124,;AHNAK,intron_variant,,ENST00000533365,;AHNAK,upstream_gene_variant,,ENST00000525875,;							MODERATE	12968/17673	K4323T	AHNK_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000367263		CCDS31584.1			1	
UBE3B	0	LGGM	GRCh37	12	109947414	109947414	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	18	16	.	.	ENST00000342494.3:c.1636A>G	p.Ile546Val	p.I546V	ENST00000342494	NM_130466.3	546	Att/Gtt	0	1	1	UPI000013DC3B	0	NA	ENST00000342494		ENSG00000151148	13478		34	1.1		HGNC	p.I546V		UBE3B		SNV			1				ENST00000539599	protein_coding	getma.org/?cm=var&var=hg19,12,109947414,A,G&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF303		I/V		G	low	2231/5722		getma.org/?cm=msa&ty=f&p=UBE3B_HUMAN&rb=451&re=650&var=I546V	tolerated(0.51)	F5H5T5_HUMAN			YES	UBE3B,missense_variant,p.Ile546Val,ENST00000342494,NM_130466.3;UBE3B,missense_variant,p.Ile546Val,ENST00000434735,NM_183415.2;UBE3B,missense_variant,p.Ile546Val,ENST00000539599,;UBE3B,missense_variant,p.Ile546Val,ENST00000280774,;UBE3B,intron_variant,,ENST00000535900,;UBE3B,missense_variant,p.Ile546Val,ENST00000449510,;UBE3B,non_coding_transcript_exon_variant,,ENST00000539584,;							MODERATE	1636/3207	I546V	UBE3B_HUMAN			Transcript		benign(0.028)	.	ENSP00000340596		CCDS9129.1			1	
ADAMTS10	0	LGGM	GRCh37	19	8654353	8654353	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	26	16	.	.	ENST00000270328.4:c.2017G>A	p.Val673Ile	p.V673I	ENST00000270328		673	Gtc/Atc	0	1		UPI000013D883	0	getma.org/pdb.php?prot=ATS10_HUMAN&from=602&to=705&var=V673I	ENST00000597188		ENSG00000142303	13201	8.67E-05	42	-0.12		HGNC	p.V160I	rs782607385	ADAMTS10		SNV			1				ENST00000595838	protein_coding	getma.org/?cm=var&var=hg19,19,8654353,C,T&fts=all		hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF26,Prints_domain:PR01857		V/I		T	neutral	2288/3749		getma.org/?cm=msa&ty=f&p=ATS10_HUMAN&rb=602&re=705&var=V673I	tolerated(1)					ADAMTS10,missense_variant,p.Val673Ile,ENST00000270328,;ADAMTS10,missense_variant,p.Val673Ile,ENST00000597188,NM_030957.2;ADAMTS10,missense_variant,p.Val160Ile,ENST00000595838,NM_001282352.1;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,;ADAMTS10,3_prime_UTR_variant,,ENST00000593826,;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596911,;ADAMTS10,downstream_gene_variant,,ENST00000601163,;ADAMTS10,downstream_gene_variant,,ENST00000603221,;ADAMTS10,downstream_gene_variant,,ENST00000596236,;							MODERATE	2017/3312	V673I	ATS10_HUMAN			Transcript		possibly_damaging(0.705)	.	ENSP00000471851	8.24E-06	CCDS12206.1			1	
EDNRB	0	LGGM	GRCh37	13	78477409	78477409	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	138	16	.	.	ENST00000377211.4:c.953T>C	p.Val318Ala	p.V318A	ENST00000377211	NM_001201397.1	318	gTc/gCc	0	1		UPI00000503F8	0	getma.org/pdb.php?prot=EDNRB_HUMAN&from=118&to=387&var=V228A	ENST00000334286		ENSG00000136160	3180		154	1.48		HGNC	p.V228A		EDNRB		SNV			1				ENST00000446573	protein_coding	getma.org/?cm=var&var=hg19,13,78477409,A,G&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Pfam_domain:PF00001,Gene3D:1.20.1070.10,hmmpanther:PTHR24243:SF30,hmmpanther:PTHR24243,PROSITE_profiles:PS50262		V/A		G	low	920/4277		getma.org/?cm=msa&ty=f&p=EDNRB_HUMAN&rb=118&re=387&var=V228A	deleterious(0.03)					EDNRB,missense_variant,p.Val318Ala,ENST00000377211,NM_001201397.1;EDNRB,missense_variant,p.Val228Ala,ENST00000334286,NM_001122659.2,NM_000115.3;EDNRB,missense_variant,p.Val228Ala,ENST00000446573,NM_003991.3;							MODERATE	683/1329	V228A	EDNRB_HUMAN			Transcript		benign(0.102)	.	ENSP00000335311		CCDS9461.1			1	
PPEF2	0	LGGM	GRCh37	4	76813088	76813088	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	31	16	.	.	ENST00000286719.7:c.99C>T	p.Tyr33=	p.Y33=	ENST00000286719	NM_006239.2	33	taC/taT	0	1	1	UPI0000163923	0		ENST00000286719		ENSG00000156194	9244		47			HGNC	p.Y33Y	rs375738589	PPEF2	6.07E-05	SNV	A:0.0002			0.000291			ENST00000286719	protein_coding			PIRSF_domain:PIRSF000912,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214		Y	A:0	A		456/3414	1.51E-05			E7EPQ9_HUMAN			YES	PPEF2,synonymous_variant,p.=,ENST00000286719,NM_006239.2;PPEF2,non_coding_transcript_exon_variant,,ENST00000510607,;PPEF2,upstream_gene_variant,,ENST00000503352,;PPEF2,synonymous_variant,p.=,ENST00000511880,;	0.000232						LOW	99/2262		PPE2_HUMAN			Transcript			.	ENSP00000286719	5.77E-05	CCDS34013.1			1	
GRB14	0	LGGM	GRCh37	2	165365343	165365343	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	38	16	.	.	ENST00000263915.3:c.836T>G	p.Phe279Cys	p.F279C	ENST00000263915	NM_004490.2	279	tTt/tGt	0	1	1	UPI000013D489	0	getma.org/pdb.php?prot=GRB14_HUMAN&from=235&to=342&var=F279C	ENST00000263915		ENSG00000115290	4565		54	-0.315		HGNC	p.F279C		GRB14		SNV							ENST00000263915	protein_coding	getma.org/?cm=var&var=hg19,2,165365343,A,C&fts=all		PROSITE_profiles:PS50003,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF22,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		F/C		C	neutral	1375/2382		getma.org/?cm=msa&ty=f&p=GRB14_HUMAN&rb=235&re=342&var=F279C	tolerated(0.23)	Q53QQ0_HUMAN,Q53QM9_HUMAN			YES	GRB14,missense_variant,p.Phe279Cys,ENST00000263915,NM_004490.2;GRB14,missense_variant,p.Phe192Cys,ENST00000543549,;GRB14,missense_variant,p.Phe234Cys,ENST00000446413,;GRB14,non_coding_transcript_exon_variant,,ENST00000488342,;GRB14,non_coding_transcript_exon_variant,,ENST00000469573,;							MODERATE	836/1623	F279C	GRB14_HUMAN			Transcript		benign(0.008)	.	ENSP00000263915		CCDS2222.1			1	
SLC12A6	0	LGGM	GRCh37	15	34543152	34543152	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	19	16	.	.	ENST00000354181.3:c.1440C>T	p.Asp480=	p.D480=	ENST00000354181		480	gaC/gaT	0	1	1	UPI0000135427	0		ENST00000354181		ENSG00000140199	10914		35			HGNC	p.D292D		SLC12A6		SNV			1				ENST00000560164	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF51,hmmpanther:PTHR11827,TIGRFAM_domain:TIGR00930		D		A		1933/4568				H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	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,;RP11-1084A12.2,upstream_gene_variant,,ENST00000559867,;SLC12A6,synonymous_variant,p.=,ENST00000561080,;SLC12A6,synonymous_variant,p.=,ENST00000559664,;SLC12A6,synonymous_variant,p.=,ENST00000559523,;							LOW	1440/3453		S12A6_HUMAN			Transcript			.	ENSP00000346112		CCDS58352.1			1	
SYNE2	0	LGGM	GRCh37	14	64596838	64596838	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	15	17	.	.	ENST00000358025.3:c.14212A>T	p.Ser4738Cys	p.S4738C	ENST00000358025	NM_182914.2	4738	Agc/Tgc	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		32	1.87		HGNC	p.S1123C		SYNE2		SNV			1				ENST00000394768	protein_coding	getma.org/?cm=var&var=hg19,14,64596838,A,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		S/C		T	low	14424/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=4679&re=4878&var=S4738C		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Ser1123Cys,ENST00000357395,;SYNE2,missense_variant,p.Ser4738Cys,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ser4738Cys,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ser4655Cys,ENST00000554584,;SYNE2,missense_variant,p.Ser1372Cys,ENST00000555002,;SYNE2,missense_variant,p.Ser1123Cys,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;							MODERATE	14212/20658	S4738C	SYNE2_HUMAN			Transcript		possibly_damaging(0.896)	.	ENSP00000341781		CCDS41963.1			1	
COL25A1	0	LGGM	GRCh37	4	109841751	109841751	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	34	17	.	.	ENST00000399132.1:c.718G>A	p.Gly240Arg	p.G240R	ENST00000399132	NM_198721.2	240	Ggg/Agg	0	1	1	UPI0000225CD2	0	NA	ENST00000399132		ENSG00000188517	18603		51	4.115		HGNC	p.G240R		COL25A1		SNV			1				ENST00000399126	protein_coding	getma.org/?cm=var&var=hg19,4,109841751,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF412,hmmpanther:PTHR24023		G/R		T	high	1249/2724		getma.org/?cm=msa&ty=f&p=COPA1_HUMAN&rb=192&re=247&var=G240R	deleterious(0)	D6R8Y2_HUMAN			YES	COL25A1,missense_variant,p.Gly240Arg,ENST00000399132,NM_198721.2;COL25A1,missense_variant,p.Gly240Arg,ENST00000399126,NM_032518.2;COL25A1,missense_variant,p.Gly236Arg,ENST00000399127,NM_001256074.1;COL25A1,missense_variant,p.Gly168Arg,ENST00000494183,;							MODERATE	718/1965	G240R	COPA1_HUMAN			Transcript		unknown(0)	.	ENSP00000382083		CCDS43258.1			1	
CHDC2	0	LGGM	GRCh37	X	36122628	36122628	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	11	18	.	.	ENST00000313548.4:c.865T>A	p.Ser289Thr	p.S289T	ENST00000313548	NM_173695.2	289	Tcc/Acc	0	1	1	UPI000006F5CD	0	NA	ENST00000313548		ENSG00000176034	26708		29	1.995		HGNC	p.S289T		CHDC2		SNV							ENST00000378660	protein_coding	getma.org/?cm=var&var=hg19,X,36122628,T,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF4		S/T		A	medium	1051/1956		getma.org/?cm=msa&ty=f&p=CX059_HUMAN&rb=201&re=323&var=S289T	deleterious(0.02)				YES	CHDC2,missense_variant,p.Ser465Thr,ENST00000378660,;CHDC2,missense_variant,p.Ser289Thr,ENST00000313548,NM_173695.2;							MODERATE	865/1509	S289T	CHDC2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000324767		CCDS14238.1			1	
MRPL15	0	LGGM	GRCh37	8	55060166	55060166	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	31	18	.	.	ENST00000260102.4:c.778A>G	p.Lys260Glu	p.K260E	ENST00000260102	NM_014175.3	260	Aag/Gag	0	1	1	UPI0000035FCA	0	NA	ENST00000260102		ENSG00000137547	14054		49	2.955		HGNC	p.K260E		MRPL15		SNV							ENST00000260102	protein_coding	getma.org/?cm=var&var=hg19,8,55060166,A,G&fts=all		hmmpanther:PTHR12934		K/E		G	medium	852/1147		getma.org/?cm=msa&ty=f&p=RM15_HUMAN&rb=178&re=296&var=K260E	deleterious(0)	E5RIZ4_HUMAN			YES	MRPL15,missense_variant,p.Lys260Glu,ENST00000260102,NM_014175.3;MRPL15,downstream_gene_variant,,ENST00000519831,;MRPL15,missense_variant,p.Lys57Glu,ENST00000522521,;							MODERATE	778/891	K260E	RM15_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000260102		CCDS6158.1			1	
FUT1	0	LGGM	GRCh37	19	49253707	49253707	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	17	18	.	.	ENST00000310160.3:c.832G>T	p.Asp278Tyr	p.D278Y	ENST00000310160	NM_000148.3	278	Gat/Tat	0	1	1	UPI00000338F8	0	NA	ENST00000310160		ENSG00000174951	4012		35	2.865		HGNC	p.D278Y		FUT1		SNV			1				ENST00000310160	protein_coding	getma.org/?cm=var&var=hg19,19,49253707,C,A&fts=all		Pfam_domain:PF01531,hmmpanther:PTHR11927,hmmpanther:PTHR11927:SF4		D/Y		A	medium	1807/4246		getma.org/?cm=msa&ty=f&p=FUT1_HUMAN&rb=37&re=353&var=D278Y	deleterious(0)	Q6IZA2_HUMAN,Q76N68_HUMAN,Q5U805_HUMAN,E3UTT6_HUMAN,A7XM32_HUMAN,A7XM28_HUMAN			YES	FUT1,missense_variant,p.Asp278Tyr,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,;							MODERATE	832/1098	D278Y	FUT1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000312021		CCDS12733.1			1	
UCKL1	0	LGGM	GRCh37	20	62577013	62577013	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	24	18	.	.	ENST00000354216.6:c.645A>G	p.Thr215=	p.T215=	ENST00000354216	NM_017859.3	215	acA/acG	0	1	1	UPI000004A08C	0		ENST00000354216		ENSG00000198276	15938		42			HGNC	p.T215T		UCKL1		SNV							ENST00000354216	protein_coding			hmmpanther:PTHR10285:SF64,hmmpanther:PTHR10285,Pfam_domain:PF00485,Gene3D:3.40.50.300,TIGRFAM_domain:TIGR00235,Superfamily_domains:SSF52540		T		C		688/1833				Q5JWV1_HUMAN			YES	UCKL1,synonymous_variant,p.=,ENST00000369908,NM_001193379.1;UCKL1,synonymous_variant,p.=,ENST00000358711,;UCKL1,synonymous_variant,p.=,ENST00000354216,NM_017859.3;UCKL1,synonymous_variant,p.=,ENST00000369892,;UCKL1,upstream_gene_variant,,ENST00000430743,;MIR647,upstream_gene_variant,,ENST00000384823,;MIR1914,upstream_gene_variant,,ENST00000607800,;UCKL1,downstream_gene_variant,,ENST00000492660,;UCKL1,downstream_gene_variant,,ENST00000483710,;							LOW	645/1647		UCKL1_HUMAN			Transcript			.	ENSP00000346155		CCDS13547.1			1	
BUB1B	0	LGGM	GRCh37	15	40477578	40477578	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	44	19	.	.	ENST00000287598.6:c.964A>G	p.Arg322Gly	p.R322G	ENST00000287598	NM_001211.5	322	Agg/Ggg	0	1	1	UPI000006E699	0	NA	ENST00000287598		ENSG00000156970	1149		63	1.1		HGNC	p.R336G	rs774455318	BUB1B		SNV			1				ENST00000412359	protein_coding	getma.org/?cm=var&var=hg19,15,40477578,A,G&fts=all		hmmpanther:PTHR14030,hmmpanther:PTHR14030:SF1		R/G		G	low	1159/3725		getma.org/?cm=msa&ty=f&p=BUB1B_HUMAN&rb=180&re=379&var=R322G	deleterious(0.01)				YES	BUB1B,missense_variant,p.Arg322Gly,ENST00000287598,NM_001211.5;BUB1B,missense_variant,p.Arg336Gly,ENST00000412359,;BUB1B,non_coding_transcript_exon_variant,,ENST00000557848,;BUB1B,non_coding_transcript_exon_variant,,ENST00000559461,;BUB1B,intron_variant,,ENST00000559733,;BUB1B,upstream_gene_variant,,ENST00000559772,;							MODERATE	964/3153	R322G	BUB1B_HUMAN			Transcript		benign(0.283)	.	ENSP00000287598		CCDS10053.1			1	
ARHGAP21	0	LGGM	GRCh37	10	24909574	24909574	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	23	19	.	.	ENST00000396432.2:c.1250C>A	p.Ala417Glu	p.A417E	ENST00000396432	NM_020824.3	417	gCa/gAa	0	1	1	UPI0001639C78	0	NA	ENST00000396432		ENSG00000107863	23725		42	2.32		HGNC	p.A204E		ARHGAP21		SNV							ENST00000320481	protein_coding	getma.org/?cm=var&var=hg19,10,24909574,G,T&fts=all		hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175		A/E		T	medium	1737/7167		getma.org/?cm=msa&ty=f&p=RHG21_HUMAN&rb=356&re=555&var=A416E	deleterious(0)	E7ESW5_HUMAN			YES	ARHGAP21,missense_variant,p.Ala417Glu,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Ala204Glu,ENST00000320481,;ARHGAP21,missense_variant,p.Ala417Glu,ENST00000446003,;ARHGAP21,missense_variant,p.Ala407Glu,ENST00000376410,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;ARHGAP21,downstream_gene_variant,,ENST00000483114,;							MODERATE	1250/5877	A416E	RHG21_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000379709		CCDS7144.2			1	
SOS1	0	LGGM	GRCh37	2	39281818	39281818	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	32	19	.	.	ENST00000402219.2:c.657A>C	p.Leu219=	p.L219=	ENST00000402219	NM_005633.3	219	ctA/ctC	0	1		UPI0000135CF0	0		ENST00000402219		ENSG00000115904	11187		51			HGNC	p.L219L		SOS1		SNV			1				ENST00000402219	protein_coding			Gene3D:1.20.900.10,Pfam_domain:PF00621,PROSITE_profiles:PS50010,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168,SMART_domains:SM00325,Superfamily_domains:SSF48065		L		G		698/8314				Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN				SOS1,synonymous_variant,p.=,ENST00000426016,;SOS1,synonymous_variant,p.=,ENST00000402219,NM_005633.3;SOS1,synonymous_variant,p.=,ENST00000395038,;SOS1,synonymous_variant,p.=,ENST00000428721,;SOS1,downstream_gene_variant,,ENST00000451331,;SOS1,upstream_gene_variant,,ENST00000461545,;							LOW	657/4002		SOS1_HUMAN			Transcript			.	ENSP00000384675		CCDS1802.1			1	
KCNQ4	0	LGGM	GRCh37	1	41285633	41285633	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	24	19	.	.	ENST00000347132.5:c.921C>T	p.Gly307=	p.G307=	ENST00000347132	NM_004700.3	307	ggC/ggT	0	1	1	UPI000013D35B	0		ENST00000347132		ENSG00000117013	6298		43			HGNC	p.G307G		KCNQ4		SNV			1				ENST00000347132	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF4,Pfam_domain:PF00520,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR00169		G		T		1003/4099							YES	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,;							LOW	921/2088		KCNQ4_HUMAN			Transcript			.	ENSP00000262916		CCDS456.1			1	
BMP7	0	LGGM	GRCh37	20	55758870	55758870	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	27	19	.	.	ENST00000395863.3:c.866G>T	p.Arg289Leu	p.R289L	ENST00000395863	NM_001719.2	289	cGc/cTc	0	1	1	UPI00000349AD	0	NA	ENST00000395863		ENSG00000101144	1074		46	1.79		HGNC	p.R289L		BMP7		SNV							ENST00000395863	protein_coding	getma.org/?cm=var&var=hg19,20,55758870,C,A&fts=all		hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF135		R/L		A	low	1372/4013		getma.org/?cm=msa&ty=f&p=BMP7_HUMAN&rb=281&re=326&var=R289L	deleterious(0)	Q9NQQ8_HUMAN,Q9H2W7_HUMAN,A8K571_HUMAN			YES	BMP7,missense_variant,p.Arg289Leu,ENST00000395863,NM_001719.2;BMP7,missense_variant,p.Arg289Leu,ENST00000450594,;BMP7,missense_variant,p.Arg211Leu,ENST00000433911,;BMP7,intron_variant,,ENST00000395864,;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,;BMP7,non_coding_transcript_exon_variant,,ENST00000463939,;							MODERATE	866/1296	R289L	BMP7_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000379204		CCDS13455.1			1	
SERPINA10	0	LGGM	GRCh37	14	94750365	94750380	+	frameshift_variant	Frame_Shift_Del	DEL	GATCATGAAATGAAAT	GATCATGAAATGAAAT	-	novel	by Submitter	H110795	H110795N.bam	GATCATGAAATGAAAT	GATCATGAAATGAAAT					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	44	19	.	.	ENST00000393096.1:c.1257_1272del	p.Phe420MetfsTer15	p.F420Mfs*15	ENST00000393096	NM_016186.2	419	ccATTTCATTTCATGATC/cc	0	1		UPI000013C46E	0		ENST00000261994		ENSG00000140093	15996		63			HGNC	p.459_464del		SERPINA10		deletion							ENST00000554723	protein_coding			Gene3D:2.30.39.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF31,SMART_domains:SM00093,Superfamily_domains:SSF56574		PFHFMI/X		-		1390-1405/2116								SERPINA10,frameshift_variant,p.Phe460MetfsTer15,ENST00000554723,;SERPINA10,frameshift_variant,p.Phe420MetfsTer15,ENST00000393096,NM_016186.2;SERPINA10,frameshift_variant,p.Phe420MetfsTer15,ENST00000261994,NM_001100607.2;SERPINA10,frameshift_variant,p.Phe420MetfsTer15,ENST00000554173,;PPP4R4,downstream_gene_variant,,ENST00000304338,NM_058237.1;							HIGH	1257-1272/1335		ZPI_HUMAN			Transcript			.	ENSP00000261994		CCDS9923.1			1	
GFPT2	0	LGGM	GRCh37	5	179743972	179743972	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	23	19	.	.	ENST00000253778.8:c.1045A>G	p.Thr349Ala	p.T349A	ENST00000253778	NM_005110.2	349	Acc/Gcc	0	1	1	UPI000014F5AC	0	getma.org/pdb.php?prot=GFPT2_HUMAN&from=219&to=362&var=T349A	ENST00000253778		ENSG00000131459	4242		42	1.755		HGNC	p.T349A		GFPT2		SNV							ENST00000253778	protein_coding	getma.org/?cm=var&var=hg19,5,179743972,T,C&fts=all		Gene3D:3.40.50.10490,hmmpanther:PTHR10937,hmmpanther:PTHR10937:SF10,Superfamily_domains:SSF53697,TIGRFAM_domain:TIGR01135		T/A		C	low	1215/3093		getma.org/?cm=msa&ty=f&p=GFPT2_HUMAN&rb=219&re=362&var=T349A	tolerated(0.46)	B3KM63_HUMAN			YES	GFPT2,missense_variant,p.Thr349Ala,ENST00000253778,NM_005110.2;GFPT2,downstream_gene_variant,,ENST00000518906,;GFPT2,non_coding_transcript_exon_variant,,ENST00000520165,;GFPT2,downstream_gene_variant,,ENST00000518185,;GFPT2,downstream_gene_variant,,ENST00000510122,;							MODERATE	1045/2049	T349A	GFPT2_HUMAN			Transcript		benign(0.01)	.	ENSP00000253778		CCDS43411.1			1	
KIAA0368	0	LGGM	GRCh37	9	114152305	114152305	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	49	20	.	.	ENST00000259335.4:c.3772A>G	p.Met1258Val	p.M1258V	ENST00000259335	NM_001080398.1	1258	Atg/Gtg	0	1		UPI0002B83222	0	NA	ENST00000338205		ENSG00000136813	29020		69	3.21		HGNC	p.M1258V		KIAA0368		SNV							ENST00000259335	protein_coding	getma.org/?cm=var&var=hg19,9,114152305,T,C&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF19,Superfamily_domains:SSF48371		M/V		C	medium	3458/7078		getma.org/?cm=msa&ty=f&p=ECM29_HUMAN&rb=923&re=1122&var=M1086V	deleterious(0.01)					KIAA0368,missense_variant,p.Met1258Val,ENST00000259335,NM_001080398.1;KIAA0368,missense_variant,p.Met1080Val,ENST00000338205,;KIAA0368,5_prime_UTR_variant,,ENST00000374378,;							MODERATE	3238/5520	M1086V	ECM29_HUMAN			Transcript		possibly_damaging(0.671)	.	ENSP00000339889					1	
CHPF	0	LGGM	GRCh37	2	220404506	220404506	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	27	20	.	.	ENST00000243776.6:c.1927C>A	p.His643Asn	p.H643N	ENST00000243776	NM_024536.5	643	Cat/Aat	0	1	1	UPI00001AE6D6	0	NA	ENST00000243776		ENSG00000123989	24291		47	2.39		HGNC	p.H643N		CHPF		SNV							ENST00000243776	protein_coding	getma.org/?cm=var&var=hg19,2,220404506,G,T&fts=all		Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF12		H/N		T	medium	2176/3013		getma.org/?cm=msa&ty=f&p=CHSS2_HUMAN&rb=262&re=762&var=H643N	tolerated(0.16)				YES	CHPF,missense_variant,p.His643Asn,ENST00000243776,NM_024536.5;CHPF,missense_variant,p.His481Asn,ENST00000535926,NM_001195731.1;ASIC4,downstream_gene_variant,,ENST00000358078,;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.1;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000474489,;							MODERATE	1927/2328	H643N	CHSS2_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000243776		CCDS2443.1			1	
PPIP5K2	0	LGGM	GRCh37	5	102523016	102523016	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	31	21	.	.	ENST00000321521.9:c.3289+876C>T		*1097*	ENST00000321521				0	1		UPI0000070504	0		ENST00000358359		ENSG00000145725	29035		52			HGNC	p.D1097D	rs782033191	PPIP5K2	0.000131	SNV							ENST00000358359	protein_coding			hmmpanther:PTHR12750:SF10,hmmpanther:PTHR12750		D		T		3800/5813				K7EPT7_HUMAN,D6RFG4_HUMAN				PPIP5K2,splice_region_variant,p.=,ENST00000358359,NM_001281471.1,NM_001276277.1;PPIP5K2,splice_region_variant,p.=,ENST00000511022,;PPIP5K2,intron_variant,,ENST00000321521,;PPIP5K2,intron_variant,,ENST00000414217,NM_015216.3;PPIP5K2,intron_variant,,ENST00000509597,;PPIP5K2,splice_region_variant,,ENST00000513500,;PPIP5K2,splice_region_variant,,ENST00000511724,;PPIP5K2,intron_variant,,ENST00000507966,;PPIP5K2,intron_variant,,ENST00000510672,;							LOW	3291/3732		VIP2_HUMAN			Transcript			.	ENSP00000351126	5.25E-05	CCDS64212.1			1	
PDC	0	LGGM	GRCh37	1	186413326	186413326	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	41	21	.	.	ENST00000391997.2:c.526G>A	p.Gly176Ser	p.G176S	ENST00000391997	NM_002597.4	176	Ggt/Agt	0	1	1	UPI00001319D2	0	getma.org/pdb.php?prot=PHOS_HUMAN&from=1&to=246&var=G176S	ENST00000391997		ENSG00000116703	8759		62	2.325		HGNC	p.G176S		PDC		SNV							ENST00000391997	protein_coding	getma.org/?cm=var&var=hg19,1,186413326,C,T&fts=all		Gene3D:3.40.30.10,Pfam_domain:PF02114,hmmpanther:PTHR21148,hmmpanther:PTHR21148:SF17,Superfamily_domains:SSF52833		G/S		T	medium	614/1242		getma.org/?cm=msa&ty=f&p=PHOS_HUMAN&rb=1&re=246&var=G176S	tolerated(0.08)	Q9UP23_HUMAN,Q52LP8_HUMAN			YES	PDC,missense_variant,p.Gly176Ser,ENST00000391997,NM_002597.4;PDC,missense_variant,p.Gly124Ser,ENST00000497198,NM_022576.3;PDC,missense_variant,p.Gly176Ser,ENST00000340129,;PDC,missense_variant,p.Gly124Ser,ENST00000456239,;							MODERATE	526/741	G176S	PHOS_HUMAN			Transcript		possibly_damaging(0.877)	.	ENSP00000375855		CCDS1370.1			1	
LAG3	0	LGGM	GRCh37	12	6884498	6884498	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	40	22	.	.	ENST00000203629.2:c.841C>T	p.Pro281Ser	p.P281S	ENST00000203629	NM_002286.5	281	Ccc/Tcc	0	1	1	UPI000013C645	0	getma.org/pdb.php?prot=LAG3_HUMAN&from=262&to=353&var=P281S	ENST00000203629		ENSG00000089692	6476		62	2.425		HGNC	p.P281S	COSM942875	LAG3		SNV						1	ENST00000441671	protein_coding	getma.org/?cm=var&var=hg19,12,6884498,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF18,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/S		T	medium	1174/1974		getma.org/?cm=msa&ty=f&p=LAG3_HUMAN&rb=262&re=353&var=P281S	deleterious(0)				YES	LAG3,missense_variant,p.Pro281Ser,ENST00000203629,NM_002286.5;LAG3,missense_variant,p.Pro281Ser,ENST00000441671,;PTMS,downstream_gene_variant,,ENST00000309083,NM_002824.4;PTMS,downstream_gene_variant,,ENST00000389462,;PTMS,downstream_gene_variant,,ENST00000538057,;PTMS,downstream_gene_variant,,ENST00000540667,;PTMS,downstream_gene_variant,,ENST00000540828,;LAG3,non_coding_transcript_exon_variant,,ENST00000538079,;LAG3,upstream_gene_variant,,ENST00000541049,;					1		MODERATE	841/1578	P281S	LAG3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000203629		CCDS8561.1			1	
PALB2	0	LGGM	GRCh37	16	23646694	23646694	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	53	23	.	.	ENST00000261584.4:c.1173A>C	p.Ala391=	p.A391=	ENST00000261584	NM_024675.3	391	gcA/gcC	0	1	1	UPI000000DA86	0		ENST00000261584		ENSG00000083093	26144		76			HGNC	p.A391A		PALB2		SNV			1				ENST00000261584	protein_coding			hmmpanther:PTHR14662:SF2,hmmpanther:PTHR14662		A		G		1326/4003							YES	PALB2,synonymous_variant,p.=,ENST00000261584,NM_024675.3;PALB2,downstream_gene_variant,,ENST00000561514,;PALB2,3_prime_UTR_variant,,ENST00000568219,;PALB2,intron_variant,,ENST00000565038,;PALB2,downstream_gene_variant,,ENST00000567003,;							LOW	1173/3561		PALB2_HUMAN			Transcript			.	ENSP00000261584		CCDS32406.1			1	
MUC15	0	LGGM	GRCh37	11	26584679	26584679	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	46	24	.	.	ENST00000436318.2:c.909C>T	p.Asp303=	p.D303=	ENST00000436318		303	gaC/gaT	0	1		UPI0000048EE0	0		ENST00000455601		ENSG00000169550	14956	0.000175	70			HGNC	p.D303D	rs748244834,COSM39735	MUC15	0.000486	SNV						0,1	ENST00000436318	protein_coding			hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF63		D		A		947/3156	4.51E-05							MUC15,synonymous_variant,p.=,ENST00000436318,;MUC15,synonymous_variant,p.=,ENST00000455601,NM_145650.3;MUC15,synonymous_variant,p.=,ENST00000529533,NM_001135091.1;ANO3,intron_variant,,ENST00000256737,NM_031418.2;ANO3,intron_variant,,ENST00000537978,;ANO3,intron_variant,,ENST00000525139,;ANO3,intron_variant,,ENST00000531568,;MUC15,intron_variant,,ENST00000281268,NM_001135092.1;MUC15,intron_variant,,ENST00000527569,;ANO3,non_coding_transcript_exon_variant,,ENST00000529242,;	0.000348				0,1		LOW	828/1005		MUC15_HUMAN			Transcript			common_variant	ENSP00000397339	0.000132	CCDS7859.1			1	
ZYG11A	0	LGGM	GRCh37	1	53322768	53322768	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	39	25	.	.	ENST00000371528.1:c.355A>T	p.Ile119Leu	p.I119L	ENST00000371528	NM_001004339.2	119	Ata/Tta	0	1	1	UPI000066D8BB	0	NA	ENST00000371528		ENSG00000203995	32058		64	-1.04		HGNC	p.I119L	rs556122769	ZYG11A		SNV							ENST00000371528	protein_coding	getma.org/?cm=var&var=hg19,1,53322768,A,T&fts=all		hmmpanther:PTHR12904,hmmpanther:PTHR12904:SF20,Superfamily_domains:SSF52047		I/L		T	neutral	503/4469		getma.org/?cm=msa&ty=f&p=ZY11A_HUMAN&rb=29&re=753&var=I119L	tolerated(0.91)				YES	ZYG11A,missense_variant,p.Ile119Leu,ENST00000371528,NM_001004339.2;ZYG11A,intron_variant,,ENST00000371532,;							MODERATE	355/2280	I119L	ZY11A_HUMAN			Transcript		benign(0.001)	.	ENSP00000360583		CCDS44148.1			1	
PDE10A	0	LGGM	GRCh37	6	165756936	165756936	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	43	25	.	.	ENST00000539869.2:c.2041C>T	p.Leu681=	p.L681=	ENST00000539869	NM_001130690.2	681	Ctg/Ttg	0	1		UPI0000039E34	0		ENST00000366882		ENSG00000112541	8772		68			HGNC	p.L671L	rs760588043	PDE10A		SNV							ENST00000354448	protein_coding			Superfamily_domains:SSF109604,Prints_domain:PR00387,SMART_domains:SM00471,Pfam_domain:PF00233,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF79		L		A		2166/8233				Q9HCQ1_HUMAN				PDE10A,synonymous_variant,p.=,ENST00000366882,;PDE10A,synonymous_variant,p.=,ENST00000354448,;PDE10A,synonymous_variant,p.=,ENST00000539869,NM_001130690.2;							LOW	2011/2340		PDE10_HUMAN			Transcript			.	ENSP00000355847					1	
SLC12A2	0	LGGM	GRCh37	5	127469950	127469950	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	37	26	.	.	ENST00000262461.2:c.1282A>T	p.Met428Leu	p.M428L	ENST00000262461	NM_001046.2	428	Atg/Ttg	0	1	1	UPI000013541A	0	getma.org/pdb.php?prot=S12A2_HUMAN&from=290&to=793&var=M428L	ENST00000262461		ENSG00000064651	10911		63	1.79		HGNC	p.M428L		SLC12A2		SNV							ENST00000343225	protein_coding	getma.org/?cm=var&var=hg19,5,127469950,A,T&fts=all		Pfam_domain:PF00324,hmmpanther:PTHR11827,hmmpanther:PTHR11827:SF58,TIGRFAM_domain:TIGR00930		M/L		T	low	1471/6885		getma.org/?cm=msa&ty=f&p=S12A2_HUMAN&rb=290&re=793&var=M428L	deleterious(0.05)	Q53ZR1_HUMAN			YES	SLC12A2,missense_variant,p.Met428Leu,ENST00000262461,NM_001046.2;SLC12A2,missense_variant,p.Met428Leu,ENST00000343225,NM_001256461.1;SLC12A2,missense_variant,p.Met428Leu,ENST00000509205,;							MODERATE	1282/3639	M428L	S12A2_HUMAN			Transcript		benign(0.17)	.	ENSP00000262461		CCDS4144.1			1	
SEMA4G	0	LGGM	GRCh37	10	102739621	102739621	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	58	26	.	.	ENST00000210633.3:c.1000T>G	p.Ser334Ala	p.S334A	ENST00000210633		334	Tca/Gca	0	1		UPI0000044D3A	0	getma.org/pdb.php?prot=SEM4G_HUMAN&from=56&to=489&var=S334A	ENST00000370250		ENSG00000095539	10735		84	3.725		HGNC	p.S334A		SEMA4G		SNV							ENST00000519649	protein_coding	getma.org/?cm=var&var=hg19,10,102739621,T,G&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF01403,PROSITE_profiles:PS51004,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF17,SMART_domains:SM00630,Superfamily_domains:SSF101912		S/A		G	high	1373/3596		getma.org/?cm=msa&ty=f&p=SEM4G_HUMAN&rb=56&re=489&var=S334A	deleterious(0)	E5RGX4_HUMAN,E5RFG2_HUMAN				SEMA4G,missense_variant,p.Ser334Ala,ENST00000210633,;SEMA4G,missense_variant,p.Ser334Ala,ENST00000370250,NM_017893.3;SEMA4G,missense_variant,p.Ser334Ala,ENST00000517724,NM_001203244.1;SEMA4G,missense_variant,p.Ser334Ala,ENST00000519649,;MRPL43,intron_variant,,ENST00000318325,NM_176792.2;MRPL43,intron_variant,,ENST00000370242,;MRPL43,intron_variant,,ENST00000523148,;MRPL43,intron_variant,,ENST00000370241,;MRPL43,downstream_gene_variant,,ENST00000342071,NM_176794.1;MRPL43,downstream_gene_variant,,ENST00000299179,NM_176793.1;MRPL43,downstream_gene_variant,,ENST00000448244,;SEMA4G,downstream_gene_variant,,ENST00000518124,;SEMA4G,upstream_gene_variant,,ENST00000476171,;MIR608,downstream_gene_variant,,ENST00000384820,;RP11-108L7.4,downstream_gene_variant,,ENST00000447344,;SEMA4G,downstream_gene_variant,,ENST00000519756,;SEMA4G,upstream_gene_variant,,ENST00000484128,;MRPL43,downstream_gene_variant,,ENST00000476012,;SEMA4G,missense_variant,p.Ser334Ala,ENST00000521006,;SEMA4G,upstream_gene_variant,,ENST00000518948,;							MODERATE	1000/2517	S334A	SEM4G_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000359270					1	
FAM216B	0	LGGM	GRCh37	13	43362726	43362726	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	56	27	.	.	ENST00000537894.1:c.221-1G>T		p.X74_splice	ENST00000537894	NM_182508.2			0	1		UPI0000070E45	0		ENST00000313851		ENSG00000179813	26883		83			HGNC	-		FAM216B		SNV							ENST00000537894	protein_coding							T		-/3241								FAM216B,splice_acceptor_variant,,ENST00000537894,NM_182508.2;FAM216B,splice_acceptor_variant,,ENST00000313851,;							HIGH	221/420		F216B_HUMAN			Transcript			.	ENSP00000319336		CCDS9386.1			1	
STK39	0	LGGM	GRCh37	2	168931635	168931635	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	51	28	.	.	ENST00000355999.4:c.1196C>T	p.Ala399Val	p.A399V	ENST00000355999	NM_013233.2	399	gCt/gTt	0	1	1	UPI000013D46D	0	NA	ENST00000355999		ENSG00000198648	17717		79	1.15		HGNC	p.A399V		STK39		SNV							ENST00000355999	protein_coding	getma.org/?cm=var&var=hg19,2,168931635,G,A&fts=all		hmmpanther:PTHR24361:SF201,hmmpanther:PTHR24361		A/V		A	low	1902/3820		getma.org/?cm=msa&ty=f&p=STK39_HUMAN&rb=338&re=451&var=A399V	deleterious(0.03)				YES	STK39,missense_variant,p.Ala399Val,ENST00000355999,NM_013233.2;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;							MODERATE	1196/1638	A399V	STK39_HUMAN			Transcript		benign(0.206)	.	ENSP00000348278		CCDS42770.1			1	
TTC21A	0	LGGM	GRCh37	3	39152412	39152412	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	36	28	.	.	ENST00000431162.2:c.339G>C	p.Leu113=	p.L113=	ENST00000431162		113	ctG/ctC	0	1	1	UPI00015D46B9	0		ENST00000431162		ENSG00000168026	30761		64			HGNC	p.L113L		TTC21A		SNV							ENST00000440121	protein_coding			Gene3D:1.25.40.10,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR14699,hmmpanther:PTHR14699:SF2,SMART_domains:SM00028,Superfamily_domains:SSF48452		L		C		473/4209							YES	TTC21A,synonymous_variant,p.=,ENST00000301819,NM_145755.2;TTC21A,synonymous_variant,p.=,ENST00000431162,;TTC21A,synonymous_variant,p.=,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,synonymous_variant,p.=,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,;							LOW	339/3963		TT21A_HUMAN			Transcript			.	ENSP00000398211		CCDS46800.1			1	
FOXJ3	0	LGGM	GRCh37	1	42744188	42744188	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	61	28	.	.	ENST00000372572.1:c.200A>T	p.Asp67Val	p.D67V	ENST00000372572	NM_001198851.1	67	gAc/gTc	0	1		UPI000013D359	0	NA	ENST00000361346		ENSG00000198815	29178		89	0.895		HGNC	p.D67V		FOXJ3		SNV							ENST00000361346	protein_coding	getma.org/?cm=var&var=hg19,1,42744188,T,A&fts=all		hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829,Gene3D:1.10.10.10		D/V		A	low	391/5225		getma.org/?cm=msa&ty=f&p=FOXJ3_HUMAN&rb=1&re=77&var=D67V	tolerated(0.13)	F6VXT0_HUMAN,C9JXI1_HUMAN				FOXJ3,missense_variant,p.Asp67Val,ENST00000372572,NM_001198851.1;FOXJ3,missense_variant,p.Asp67Val,ENST00000372573,NM_001198850.1;FOXJ3,missense_variant,p.Asp67Val,ENST00000361346,NM_014947.4;FOXJ3,missense_variant,p.Asp67Val,ENST00000545068,;FOXJ3,missense_variant,p.Asp67Val,ENST00000361776,NM_001198852.1;FOXJ3,missense_variant,p.Asp67Val,ENST00000445886,;FOXJ3,missense_variant,p.Asp24Val,ENST00000454417,;							MODERATE	200/1869	D67V	FOXJ3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000354620		CCDS30689.1			1	
DNAH17	0	LGGM	GRCh37	17	76557931	76557931	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	17	29	.	.	ENST00000389840.5:c.1701G>T	p.Met567Ile	p.M567I	ENST00000389840		567	atG/atT	0	1	1	UPI0001A5EE11	0	NA	ENST00000389840		ENSG00000187775	2946		46	0.59		HGNC	p.M567I		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76557931,C,A&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF08385		M/I		A	neutral	1826/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=186&re=769&var=M567I					YES	DNAH17,missense_variant,p.Met567Ile,ENST00000389840,;DNAH17,missense_variant,p.Met567Ile,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000589793,;							MODERATE	1701/13458	M567I	DYH17_HUMAN			Transcript		benign(0.001)	.	ENSP00000374490					1	
OR51J1	0	LGGM	GRCh37	11	5424406	5424406	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	56	29	.	.	ENST00000332043.1:c.580A>G	p.Ile194Val	p.I194V	ENST00000332043		194	Att/Gtt	0	1	1	UPI00001AFFE3	0		ENST00000332043		ENSG00000184321	14856		85			HGNC	p.I194V		OR51J1		SNV							ENST00000332043	protein_coding			Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR23360:SF9,hmmpanther:PTHR23360,PROSITE_profiles:PS50262		I/V		G		580/951			tolerated(0.26)				YES	OR51J1,missense_variant,p.Ile194Val,ENST00000332043,;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,;							MODERATE	580/951		O51J1_HUMAN			Transcript		benign(0.035)	.	ENSP00000332473					1	
C3orf17	0	LGGM	GRCh37	3	112730075	112730075	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	49	30	.	.	ENST00000314400.5:c.730A>G	p.Ile244Val	p.I244V	ENST00000314400	NM_015412.3	244	Ata/Gta	0	1	1	UPI0000367197	0	NA	ENST00000314400		ENSG00000163608	24496		79	0		HGNC	p.I108V		C3orf17		SNV							ENST00000393857	protein_coding	getma.org/?cm=var&var=hg19,3,112730075,T,C&fts=all				I/V		C	neutral	922/4992		getma.org/?cm=msa&ty=f&p=CC017_HUMAN&rb=36&re=565&var=I244V	tolerated(0.26)	C9J9E3_HUMAN,A8MVI8_HUMAN			YES	C3orf17,missense_variant,p.Ile244Val,ENST00000314400,NM_015412.3;C3orf17,missense_variant,p.Ile174Val,ENST00000383675,;C3orf17,missense_variant,p.Ile108Val,ENST00000393857,;C3orf17,downstream_gene_variant,,ENST00000472166,;C3orf17,non_coding_transcript_exon_variant,,ENST00000472762,;C3orf17,downstream_gene_variant,,ENST00000494575,;C3orf17,missense_variant,p.Ile174Val,ENST00000461381,;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,,ENST00000460410,;C3orf17,3_prime_UTR_variant,,ENST00000496206,;C3orf17,3_prime_UTR_variant,,ENST00000494164,;C3orf17,3_prime_UTR_variant,,ENST00000491121,;C3orf17,non_coding_transcript_exon_variant,,ENST00000486271,;C3orf17,non_coding_transcript_exon_variant,,ENST00000482229,;C3orf17,non_coding_transcript_exon_variant,,ENST00000464816,;GTPBP8,intron_variant,,ENST00000485330,;C3orf17,intron_variant,,ENST00000469809,;C3orf17,intron_variant,,ENST00000462295,;C3orf17,intron_variant,,ENST00000472705,;C3orf17,upstream_gene_variant,,ENST00000474311,;C3orf17,downstream_gene_variant,,ENST00000494891,;C3orf17,downstream_gene_variant,,ENST00000470663,;C3orf17,downstream_gene_variant,,ENST00000496340,;							MODERATE	730/1704	I244V	CC017_HUMAN			Transcript		benign(0.001)	.	ENSP00000320251		CCDS33824.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37490203	37490203	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	47	30	.	.	ENST00000361713.1:c.2651C>A	p.Pro884His	p.P884H	ENST00000361713	NM_052997.2	884	cCc/cAc	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		77	1.75		HGNC	p.P884H		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37490203,C,A&fts=all				P/H		A	low	2750/4405		getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=281&re=1396&var=P940H	deleterious(0.05)	R4GNA2_HUMAN			YES	ANKRD30A,missense_variant,p.Pro1003His,ENST00000374660,;ANKRD30A,missense_variant,p.Pro884His,ENST00000602533,;ANKRD30A,missense_variant,p.Pro884His,ENST00000361713,NM_052997.2;							MODERATE	2651/4026	P940H	AN30A_HUMAN			Transcript		benign(0.326)	.	ENSP00000354432		CCDS7193.1			1	
GRM1	0	LGGM	GRCh37	6	146720364	146720364	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	31	30	.	.	ENST00000361719.2:c.2189C>T	p.Pro730Leu	p.P730L	ENST00000361719		730	cCt/cTt	0	1		UPI000013DCFD	0	NA	ENST00000282753		ENSG00000152822	4593		61	3.44		HGNC	p.P730L		GRM1		SNV			1				ENST00000392299	protein_coding	getma.org/?cm=var&var=hg19,6,146720364,C,T&fts=all		PROSITE_profiles:PS50259,hmmpanther:PTHR24060:SF29,hmmpanther:PTHR24060,Pfam_domain:PF00003		P/L		T	medium	2424/6622		getma.org/?cm=msa&ty=f&p=GRM1_HUMAN&rb=602&re=838&var=P730L	deleterious(0)					GRM1,missense_variant,p.Pro730Leu,ENST00000392299,;GRM1,missense_variant,p.Pro730Leu,ENST00000361719,;GRM1,missense_variant,p.Pro730Leu,ENST00000492807,NM_001278066.1,NM_001278065.1;GRM1,missense_variant,p.Pro730Leu,ENST00000282753,NM_001278067.1,NM_001278064.1;GRM1,missense_variant,p.Pro730Leu,ENST00000355289,;GRM1,missense_variant,p.Pro730Leu,ENST00000507907,;							MODERATE	2189/3585	P730L	GRM1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000282753		CCDS5209.1			1	
GPAM	0	LGGM	GRCh37	10	113913359	113913359	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	22	30	.	.	ENST00000348367.4:c.2436A>G	p.Gln812=	p.Q812=	ENST00000348367		812	caA/caG	0	1	1	UPI000004AC02	0		ENST00000348367		ENSG00000119927	24865		52			HGNC	p.Q812Q	rs748862078	GPAM		SNV				9.83E-05			ENST00000423155	protein_coding			PIRSF_domain:PIRSF000437,PIRSF_domain:PIRSF500064,hmmpanther:PTHR12563,hmmpanther:PTHR12563:SF2		Q		C		2634/6369	1.51E-05			Q6ZMG4_HUMAN			YES	GPAM,synonymous_variant,p.=,ENST00000348367,;GPAM,synonymous_variant,p.=,ENST00000423155,NM_020918.5,NM_001244949.1;GPAM,downstream_gene_variant,,ENST00000369425,;							LOW	2436/2487		GPAT1_HUMAN			Transcript			.	ENSP00000265276	1.65E-05	CCDS7570.1			1	
SYF2	0	LGGM	GRCh37	1	25553955	25553955	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	55	30	.	.	ENST00000236273.4:c.445T>A	p.Tyr149Asn	p.Y149N	ENST00000236273	NM_015484.4	149	Tat/Aat	0	1	1	UPI0000073D39	0	NA	ENST00000236273		ENSG00000117614	19824		85	3.605		HGNC	p.Y149N		SYF2		SNV							ENST00000236273	protein_coding	getma.org/?cm=var&var=hg19,1,25553955,A,T&fts=all		Pfam_domain:PF08231,hmmpanther:PTHR13264,hmmpanther:PTHR13264:SF5		Y/N		T	high	471/1345		getma.org/?cm=msa&ty=f&p=SYF2_HUMAN&rb=89&re=238&var=Y149N	deleterious(0)				YES	SYF2,missense_variant,p.Tyr149Asn,ENST00000236273,NM_015484.4;SYF2,missense_variant,p.Tyr107Asn,ENST00000354361,NM_207170.3;SYF2,downstream_gene_variant,,ENST00000476231,;SYF2,downstream_gene_variant,,ENST00000474160,;							MODERATE	445/732	Y149N	SYF2_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000236273		CCDS259.1			1	
CEACAM1	0	LGGM	GRCh37	19	43031417	43031417	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	82	31	.	.	ENST00000161559.6:c.200G>T	p.Trp67Leu	p.W67L	ENST00000161559	NM_001712.4	67	tGg/tTg	0	1	1	UPI0000127483	0	getma.org/pdb.php?prot=CEAM1_HUMAN&from=33&to=140&var=W67L	ENST00000161559		ENSG00000079385	1814		113	4.045		HGNC	p.W67L		CEACAM1		SNV							ENST00000351134	protein_coding	getma.org/?cm=var&var=hg19,19,43031417,C,A&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR19955:SF118,hmmpanther:PTHR19955		W/L		A	high	335/3519		getma.org/?cm=msa&ty=f&p=CEAM1_HUMAN&rb=33&re=140&var=W67L	deleterious(0)	M0R2K4_HUMAN,M0R109_HUMAN			YES	CEACAM1,missense_variant,p.Trp67Leu,ENST00000161559,NM_001712.4;CEACAM1,missense_variant,p.Trp67Leu,ENST00000403444,NM_001205344.1,NM_001024912.2,NM_001184816.1;CEACAM1,missense_variant,p.Trp67Leu,ENST00000352591,NM_001184813.1;CEACAM1,missense_variant,p.Trp67Leu,ENST00000351134,;CEACAM1,missense_variant,p.Trp67Leu,ENST00000358394,NM_001184815.1;CEACAM1,missense_variant,p.Trp27Leu,ENST00000308072,;CEACAM1,missense_variant,p.Trp67Leu,ENST00000599389,;CEACAM1,missense_variant,p.Trp67Leu,ENST00000403461,;CEACAM1,missense_variant,p.Trp27Leu,ENST00000600172,;CEACAM1,missense_variant,p.Trp27Leu,ENST00000471298,;LIPE-AS1,intron_variant,,ENST00000594688,;LIPE-AS1,intron_variant,,ENST00000594624,;LIPE-AS1,downstream_gene_variant,,ENST00000457234,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000403136,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000377806,;CEACAM1,non_coding_transcript_exon_variant,,ENST00000344391,;							MODERATE	200/1581	W67L	CEAM1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000161559		CCDS12609.1			1	
DMXL1	0	LGGM	GRCh37	5	118445949	118445949	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	28	31	.	.	ENST00000311085.8:c.468T>A	p.Phe156Leu	p.F156L	ENST00000311085	NM_005509.4	156	ttT/ttA	0	1	1	UPI000013F0EC	0	NA	ENST00000311085		ENSG00000172869	2937		59	-0.69		HGNC	p.F156L		DMXL1		SNV							ENST00000503802	protein_coding	getma.org/?cm=var&var=hg19,5,118445949,T,A&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF12,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		F/L		A	neutral	548/11072		getma.org/?cm=msa&ty=f&p=DMXL1_HUMAN&rb=1&re=158&var=F156L	tolerated(1)	F1T0K4_HUMAN,E7EMZ0_HUMAN			YES	DMXL1,missense_variant,p.Phe156Leu,ENST00000311085,NM_005509.4;DMXL1,missense_variant,p.Phe156Leu,ENST00000539542,;DMXL1,missense_variant,p.Phe156Leu,ENST00000503802,;DMXL1,non_coding_transcript_exon_variant,,ENST00000514151,;DMXL1,downstream_gene_variant,,ENST00000510924,;							MODERATE	468/9084	F156L	DMXL1_HUMAN			Transcript		benign(0)	.	ENSP00000309690		CCDS4125.1			1	
TCHHL1	0	LGGM	GRCh37	1	152057954	152057954	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	34	32	.	.	ENST00000368806.1:c.2204A>G	p.Gln735Arg	p.Q735R	ENST00000368806	NM_001008536.1	735	cAa/cGa	0	1	1	UPI0000496834	0	NA	ENST00000368806		ENSG00000182898	31796		66	0.69		HGNC	p.Q735R		TCHHL1		SNV							ENST00000368806	protein_coding	getma.org/?cm=var&var=hg19,1,152057954,T,C&fts=all		hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53		Q/R		C	neutral	2269/3603		getma.org/?cm=msa&ty=f&p=TCHL1_HUMAN&rb=610&re=809&var=Q735R	tolerated(0.08)				YES	TCHHL1,missense_variant,p.Gln735Arg,ENST00000368806,NM_001008536.1;							MODERATE	2204/2715	Q735R	TCHL1_HUMAN			Transcript		benign(0.002)	.	ENSP00000357796		CCDS30857.1			1	
FAM13C	0	LGGM	GRCh37	10	61083857	61083857	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	108	36	.	.	ENST00000373868.2:c.334C>A	p.His112Asn	p.H112N	ENST00000373868	NM_198215.3	112	Cat/Aat	0	1	1	UPI00001AEA18	0	NA	ENST00000373868		ENSG00000148541	19371		144	1.87		HGNC	p.H112N		FAM13C		SNV							ENST00000277705	protein_coding	getma.org/?cm=var&var=hg19,10,61083857,G,T&fts=all		hmmpanther:PTHR15904:SF1,hmmpanther:PTHR15904		H/N		T	low	422/3327		getma.org/?cm=msa&ty=f&p=FA13C_HUMAN&rb=1&re=500&var=H112N	tolerated_low_confidence(0.29)	D6RIX4_HUMAN			YES	FAM13C,missense_variant,p.His29Asn,ENST00000373867,NM_001166698.1;FAM13C,missense_variant,p.His112Asn,ENST00000277705,;FAM13C,missense_variant,p.His112Asn,ENST00000442566,;FAM13C,missense_variant,p.His112Asn,ENST00000373868,NM_198215.3;FAM13C,missense_variant,p.His112Asn,ENST00000419214,NM_001001971.2;FAM13C,missense_variant,p.His29Asn,ENST00000468840,NM_001143773.1;FAM13C,missense_variant,p.His112Asn,ENST00000435852,;FAM13C,missense_variant,p.His112Asn,ENST00000422313,;FAM13C,non_coding_transcript_exon_variant,,ENST00000510215,;FAM13C,non_coding_transcript_exon_variant,,ENST00000470220,;FAM13C,non_coding_transcript_exon_variant,,ENST00000507862,;FAM13C,3_prime_UTR_variant,,ENST00000513059,;FAM13C,3_prime_UTR_variant,,ENST00000504410,;							MODERATE	334/1758	H112N	FA13C_HUMAN			Transcript		benign(0.007)	.	ENSP00000362975		CCDS7255.1			1	
PRKCB	0	LGGM	GRCh37	16	23847628	23847628	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	57	36	.	.	ENST00000303531.7:c.132C>G	p.Phe44Leu	p.F44L	ENST00000303531	NM_002738.6	44	ttC/ttG	0	1		UPI000012DF67	0	getma.org/pdb.php?prot=KPCB_HUMAN&from=37&to=89&var=F44L	ENST00000321728		ENSG00000166501	9395		93	1.16		HGNC	p.F44L		PRKCB		SNV							ENST00000321728	protein_coding	getma.org/?cm=var&var=hg19,16,23847628,C,G&fts=all		Gene3D:3.30.60.20,Pfam_domain:PF00130,PIRSF_domain:PIRSF000550,Prints_domain:PR00008,PROSITE_patterns:PS00479,PROSITE_profiles:PS50081,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00109,Superfamily_domains:SSF57889		F/L		G	low	307/2689		getma.org/?cm=msa&ty=f&p=KPCB_HUMAN&rb=37&re=89&var=F44L	tolerated(0.34)	I3L1Z0_HUMAN				PRKCB,missense_variant,p.Phe44Leu,ENST00000303531,NM_002738.6;PRKCB,missense_variant,p.Phe44Leu,ENST00000321728,NM_212535.2;PRKCB,missense_variant,p.Phe44Leu,ENST00000498058,;PRKCB,upstream_gene_variant,,ENST00000498739,;							MODERATE	132/2016	F44L	KPCB_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000318315		CCDS10618.1			1	
ARSG	0	LGGM	GRCh37	17	66343291	66343291	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	22	37	.	.	ENST00000448504.2:c.432C>T	p.Gly144=	p.G144=	ENST00000448504	NM_014960.4	144	ggC/ggT	0	1	1	UPI000003FD81	0		ENST00000448504		ENSG00000141337	24102		59			HGNC	p.G144G		ARSG		SNV							ENST00000448504	protein_coding			Superfamily_domains:SSF53649,Pfam_domain:PF00884,Gene3D:3.40.720.10,hmmpanther:PTHR10342,hmmpanther:PTHR10342:SF186		G		T		1228/4642				J9JIG6_HUMAN,J3KS49_HUMAN			YES	ARSG,synonymous_variant,p.=,ENST00000448504,NM_014960.4;ARSG,5_prime_UTR_variant,,ENST00000452479,NM_001267727.1;ARSG,non_coding_transcript_exon_variant,,ENST00000582154,;ARSG,non_coding_transcript_exon_variant,,ENST00000581032,;							LOW	432/1578		ARSG_HUMAN			Transcript			.	ENSP00000407193		CCDS11676.1			1	
DST	0	LGGM	GRCh37	6	56366442	56366442	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	59	38	.	.	ENST00000244364.6:c.11747A>G	p.Asn3916Ser	p.N3916S	ENST00000244364	NM_015548.4	3916	aAt/aGt	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		97	1.46		HGNC	p.N3916S		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56366442,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		N/S		C	low	11955/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=6267&re=6374&var=N6328S		Q86T18_HUMAN			YES	DST,missense_variant,p.Asn6508Ser,ENST00000370754,;DST,missense_variant,p.Asn6330Ser,ENST00000370769,;DST,missense_variant,p.Asn6004Ser,ENST00000446842,;DST,missense_variant,p.Asn6219Ser,ENST00000361203,;DST,missense_variant,p.Asn4133Ser,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Asn4242Ser,ENST00000421834,;DST,missense_variant,p.Asn3916Ser,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,non_coding_transcript_exon_variant,,ENST00000340834,;DST,upstream_gene_variant,,ENST00000459869,;							MODERATE	11747/15516	N6328S	DYST_HUMAN			Transcript		benign(0.046)	.	ENSP00000244364		CCDS47443.1			1	
TENM3	0	LGGM	GRCh37	4	183714957	183714957	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110795	H110795N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	68	39	.	.	ENST00000511685.1:c.7132G>T	p.Asp2378Tyr	p.D2378Y	ENST00000511685		2378	Gac/Tac	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		107	1.995		HGNC	p.D2378Y		TENM3		SNV			1				ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183714957,G,T&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,TIGRFAM_domain:TIGR03696		D/Y		T	medium	7255/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=2311&re=2510&var=D2378Y	deleterious(0.02)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Asp2378Tyr,ENST00000511685,;TENM3,missense_variant,p.Asp2378Tyr,ENST00000406950,NM_001080477.1;							MODERATE	7132/8100	D2378Y	TEN3_HUMAN			Transcript		possibly_damaging(0.756)	.	ENSP00000424226		CCDS47165.1			1	
DYNC2H1	0	LGGM	GRCh37	11	103106473	103106473	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	66	42	.	.	ENST00000398093.3:c.9640C>T	p.Leu3214Phe	p.L3214F	ENST00000398093		3214	Ctt/Ttt	0	1		UPI0000418CA2	0	getma.org/pdb.php?prot=DYHC2_HUMAN&from=2895&to=3231&var=L3214F	ENST00000375735		ENSG00000187240	2962		108	2.725		HGNC	p.L3214F		DYNC2H1		SNV			1				ENST00000375735	protein_coding	getma.org/?cm=var&var=hg19,11,103106473,C,T&fts=all		Pfam_domain:PF12777,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF34		L/F		T	medium	9784/13678		getma.org/?cm=msa&ty=f&p=DYHC2_HUMAN&rb=2895&re=3231&var=L3214F						DYNC2H1,missense_variant,p.Leu3214Phe,ENST00000375735,NM_001080463.1,NM_001377.2;DYNC2H1,missense_variant,p.Leu3214Phe,ENST00000398093,;DYNC2H1,intron_variant,,ENST00000334267,;							MODERATE	9640/12924	L3214F	DYHC2_HUMAN			Transcript		probably_damaging(0.924)	.	ENSP00000364887		CCDS53701.1			1	
AGBL1	0	LGGM	GRCh37	15	86702215	86702215	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	68	47	.	.	ENST00000441037.2:c.308A>T	p.Lys103Met	p.K103M	ENST00000441037	NM_152336.2	103	aAg/aTg	0	1	1	UPI0000EC9CE0	0	NA	ENST00000441037		ENSG00000166748	26504		115	2.445		HGNC	p.K103M		AGBL1		SNV			1				ENST00000441037	protein_coding	getma.org/?cm=var&var=hg19,15,86702215,A,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR12756,hmmpanther:PTHR12756:SF5,Superfamily_domains:SSF48371		K/M		T	medium	403/3508		getma.org/?cm=msa&ty=f&p=CBPC4_HUMAN&rb=1&re=534&var=K103M	deleterious(0)	J3KQF5_HUMAN			YES	AGBL1,missense_variant,p.Lys103Met,ENST00000441037,NM_152336.2;AGBL1,missense_variant,p.Lys103Met,ENST00000421325,;							MODERATE	308/3201	K103M	CBPC4_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000413001		CCDS58398.1			1	
BIRC6	0	LGGM	GRCh37	2	32706476	32706476	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	72	48	.	.	ENST00000421745.2:c.7497A>G	p.Leu2499=	p.L2499=	ENST00000421745	NM_016252.3	2499	ttA/ttG	0	1	1	UPI0001611442	0		ENST00000421745		ENSG00000115760	13516		120			HGNC	p.L2499L		BIRC6		SNV							ENST00000421745	protein_coding			hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93		L		G		7631/15703							YES	BIRC6,synonymous_variant,p.=,ENST00000421745,NM_016252.3;							LOW	7497/14574		BIRC6_HUMAN			Transcript			.	ENSP00000393596		CCDS33175.2			1	
PPP1R12A	0	LGGM	GRCh37	12	80214586	80214586	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110795	H110795N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	121	55	.	.	ENST00000450142.2:c.1082A>T	p.Glu361Val	p.E361V	ENST00000450142	NM_002480.2	361	gAg/gTg	0	1		UPI0000073E69	0	NA	ENST00000261207		ENSG00000058272	7618		176	2.365		HGNC	p.E361V		PPP1R12A		SNV							ENST00000261207	protein_coding	getma.org/?cm=var&var=hg19,12,80214586,T,A&fts=all		PIRSF_domain:PIRSF038141,hmmpanther:PTHR24179,hmmpanther:PTHR24179:SF20,Low_complexity_(Seg):seg		E/V		A	medium	1205/5582		getma.org/?cm=msa&ty=f&p=MYPT1_HUMAN&rb=275&re=944&var=E361V	deleterious(0)	F8VW28_HUMAN				PPP1R12A,missense_variant,p.Glu361Val,ENST00000450142,NM_002480.2;PPP1R12A,missense_variant,p.Glu361Val,ENST00000261207,NM_001143885.1;PPP1R12A,missense_variant,p.Glu361Val,ENST00000437004,NM_001244990.1;PPP1R12A,missense_variant,p.Glu274Val,ENST00000546369,NM_001143886.1;PPP1R12A,missense_variant,p.Glu361Val,ENST00000550107,NM_001244992.1;PPP1R12A,missense_variant,p.Glu361Val,ENST00000547330,;PPP1R12A,missense_variant,p.Glu56Val,ENST00000547131,;PPP1R12A,upstream_gene_variant,,ENST00000553081,;PPP1R12A,downstream_gene_variant,,ENST00000550510,;RP11-530C5.2,upstream_gene_variant,,ENST00000548469,;							MODERATE	1082/3093	E361V	MYPT1_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000261207		CCDS44947.1			1	
AOAH	0	LGGM	GRCh37	7	36661379	36661379	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	127	58	.	.	ENST00000258749.5:c.590G>A	p.Arg197Gln	p.R197Q	ENST00000258749	NM_001637.3	197	cGg/cAg	0	1	1	UPI0000001291	0		ENST00000258749		ENSG00000136250	548	0.000433	185			HGNC	p.R197Q	rs756142076	AOAH	6.07E-05	SNV							ENST00000258749	protein_coding			hmmpanther:PTHR15010		R/Q		T		990/2379	1.50E-05		deleterious(0)				YES	AOAH,missense_variant,p.Arg197Gln,ENST00000431169,NM_001177506.1;AOAH,missense_variant,p.Arg197Gln,ENST00000258749,NM_001637.3;AOAH,missense_variant,p.Arg165Gln,ENST00000535891,NM_001177507.1;AOAH,downstream_gene_variant,,ENST00000543742,;							MODERATE	590/1728		AOAH_HUMAN			Transcript		probably_damaging(0.972)	common_variant	ENSP00000258749	5.77E-05	CCDS5448.1			1	
MUC16	0	LGGM	GRCh37	19	9024826	9024826	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110795	H110795N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	137	66	.	.	ENST00000397910.4:c.37036G>T	p.Gly12346Cys	p.G12346C	ENST00000397910	NM_024690.2	12346	Ggt/Tgt	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		203	2.52		HGNC	p.G12346C		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9024826,C,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		G/C		A	medium	37240/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=12340&re=12386&var=G12348C		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Gly12346Cys,ENST00000397910,NM_024690.2;							MODERATE	37036/43524	G12348C				Transcript		probably_damaging(0.961)	.	ENSP00000381008		CCDS54212.1			1	
SEC24A	0	LGGM	GRCh37	5	133996818	133996818	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	149	73	.	.	ENST00000398844.2:c.107A>G	p.Gln36Arg	p.Q36R	ENST00000398844	NM_021982.2	36	cAa/cGa	0	1	1	UPI0000185FF9	0	NA	ENST00000398844		ENSG00000113615	10703		222	0.975		HGNC	p.Q36R		SEC24A		SNV							ENST00000398844	protein_coding	getma.org/?cm=var&var=hg19,5,133996818,A,G&fts=all				Q/R		G	low	395/6299		getma.org/?cm=msa&ty=f&p=SC24A_HUMAN&rb=1&re=68&var=Q36R	deleterious_low_confidence(0.03)				YES	SEC24A,missense_variant,p.Gln36Arg,ENST00000398844,NM_021982.2;SEC24A,missense_variant,p.Gln36Arg,ENST00000322887,NM_001252231.1;							MODERATE	107/3282	Q36R	SC24A_HUMAN			Transcript		benign(0.075)	.	ENSP00000381823		CCDS43363.1			1	
SEC24A	0	LGGM	GRCh37	5	133996850	133996850	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110795	H110795N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110795N.bam, H110795T.bam	Illumina HiSeq	176	82	.	.	ENST00000398844.2:c.139A>C	p.Ser47Arg	p.S47R	ENST00000398844	NM_021982.2	47	Agc/Cgc	0	1	1	UPI0000185FF9	0	NA	ENST00000398844		ENSG00000113615	10703		258	0.895		HGNC	p.S47R		SEC24A		SNV							ENST00000398844	protein_coding	getma.org/?cm=var&var=hg19,5,133996850,A,C&fts=all				S/R		C	low	427/6299		getma.org/?cm=msa&ty=f&p=SC24A_HUMAN&rb=1&re=68&var=S47R	deleterious_low_confidence(0.03)				YES	SEC24A,missense_variant,p.Ser47Arg,ENST00000398844,NM_021982.2;SEC24A,missense_variant,p.Ser47Arg,ENST00000322887,NM_001252231.1;							MODERATE	139/3282	S47R	SC24A_HUMAN			Transcript		benign(0.063)	.	ENSP00000381823		CCDS43363.1			1	
ABHD15	0	LGGM	GRCh37	17	27893404	27893404	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	7	2	.	.	ENST00000307201.4:c.581G>T	p.Arg194Leu	p.R194L	ENST00000307201	NM_198147.2	194	cGc/cTc	0	1	1	UPI00001C1FC9	0	NA	ENST00000307201		ENSG00000168792	26971		9	2.395		HGNC	p.R194L		ABHD15		SNV							ENST00000307201	protein_coding	getma.org/?cm=var&var=hg19,17,27893404,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF12697,PIRSF_domain:PIRSF005211,hmmpanther:PTHR10794,hmmpanther:PTHR10794:SF39,Superfamily_domains:SSF53474		R/L		A	medium	752/3592		getma.org/?cm=msa&ty=f&p=ABH15_HUMAN&rb=160&re=402&var=R194L	deleterious(0)				YES	ABHD15,missense_variant,p.Arg194Leu,ENST00000307201,NM_198147.2;TP53I13,upstream_gene_variant,,ENST00000301057,NM_138349.2;TP53I13,upstream_gene_variant,,ENST00000578749,;TP53I13,upstream_gene_variant,,ENST00000581411,;TP53I13,upstream_gene_variant,,ENST00000580183,;TP53I13,upstream_gene_variant,,ENST00000582829,;TP53I13,upstream_gene_variant,,ENST00000583940,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.4,upstream_gene_variant,,ENST00000579050,;TP53I13,non_coding_transcript_exon_variant,,ENST00000584522,;TP53I13,intron_variant,,ENST00000578073,;TP53I13,upstream_gene_variant,,ENST00000579674,;TP53I13,upstream_gene_variant,,ENST00000577934,;TP53I13,upstream_gene_variant,,ENST00000580132,;							MODERATE	581/1407	R194L	ABH15_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302657		CCDS32602.1			1	
METTL16	0	LGGM	GRCh37	17	2344821	2344821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	6	2	.	.	ENST00000263092.6:c.761G>T	p.Ser254Ile	p.S254I	ENST00000263092	NM_024086.3	254	aGc/aTc	0	1	1	UPI0000200607	0	getma.org/pdb.php?prot=MET16_HUMAN&from=1&to=291&var=S254I	ENST00000263092		ENSG00000127804	28484		8	2.98		HGNC	p.S254I		METTL16		SNV							ENST00000263092	protein_coding	getma.org/?cm=var&var=hg19,17,2344821,C,A&fts=all		Pfam_domain:PF05971,PIRSF_domain:PIRSF037350,hmmpanther:PTHR13393,hmmpanther:PTHR13393:SF0		S/I		A	medium	889/5711		getma.org/?cm=msa&ty=f&p=MET16_HUMAN&rb=1&re=291&var=S254I	deleterious(0)	B7Z3X7_HUMAN			YES	METTL16,missense_variant,p.Ser254Ile,ENST00000263092,NM_024086.3;METTL16,missense_variant,p.Ser36Ile,ENST00000538844,;METTL16,non_coding_transcript_exon_variant,,ENST00000571669,;METTL16,3_prime_UTR_variant,,ENST00000576556,;METTL16,3_prime_UTR_variant,,ENST00000574752,;							MODERATE	761/1689	S254I	MET16_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000263092		CCDS42232.1			1	
AFF3	0	LGGM	GRCh37	2	100209720	100209720	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	15	2	.	.	ENST00000356421.2:c.2478G>T	p.Pro826=	p.P826=	ENST00000356421	NM_001025108.1	826	ccG/ccT	0	1		UPI0000207EDD	0		ENST00000409236		ENSG00000144218	6473		17			HGNC	p.P801P		AFF3		SNV							ENST00000317233	protein_coding			hmmpanther:PTHR10528:SF16,hmmpanther:PTHR10528,Pfam_domain:PF05110		P		A		2516/9407				C9JZ66_HUMAN,C9JMS1_HUMAN,C9JC67_HUMAN,C9J847_HUMAN,C9J622_HUMAN				AFF3,synonymous_variant,p.=,ENST00000409236,;AFF3,synonymous_variant,p.=,ENST00000317233,NM_002285.2;AFF3,synonymous_variant,p.=,ENST00000356421,NM_001025108.1;AFF3,synonymous_variant,p.=,ENST00000409579,;							LOW	2403/3681		AFF3_HUMAN			Transcript			.	ENSP00000387207		CCDS42723.1			1	
VCX3A	0	LGGM	GRCh37	X	6451979	6451979	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	20	4	.	.	ENST00000381089.3:c.368C>T	p.Pro123Leu	p.P123L	ENST00000381089	NM_016379.3	123	cCa/cTa	0	1	1	UPI0000138292	0	NA	ENST00000381089		ENSG00000169059	18159		24	1.7		HGNC	p.P123L	rs370955913	VCX3A		SNV							ENST00000381089	protein_coding	getma.org/?cm=var&var=hg19,X,6451979,G,A&fts=all		Pfam_domain:PF15231,hmmpanther:PTHR15251,hmmpanther:PTHR15251:SF0,Low_complexity_(Seg):seg		P/L		A	low	675/995		getma.org/?cm=msa&ty=f&p=VCX3_HUMAN&rb=1&re=180&var=P123L	deleterious(0)				YES	VCX3A,missense_variant,p.Pro123Leu,ENST00000381089,NM_016379.3;VCX3A,intron_variant,,ENST00000398729,;							MODERATE	368/561	P123L	VCX3_HUMAN			Transcript		unknown(0)	.	ENSP00000370479		CCDS35199.1			1	
GLA	0	LGGM	GRCh37	X	100653552	100653552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	43	3	.	.	ENST00000218516.3:c.805G>T	p.Val269Leu	p.V269L	ENST00000218516	NM_000169.2	269	Gtg/Ttg	0	1	1	UPI0000033A30	0		ENST00000218516		ENSG00000102393	4296		46			HGNC	p.V269L		GLA		SNV			1				ENST00000218516	protein_coding			hmmpanther:PTHR11452,hmmpanther:PTHR11452:SF15,Gene3D:3.20.20.70,Superfamily_domains:SSF51445,Prints_domain:PR00740		V/L		A		827/1318			tolerated(0.21)	Q6LER7_HUMAN,Q53Y83_HUMAN			YES	GLA,missense_variant,p.Val269Leu,ENST00000218516,NM_000169.2;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,;RPL36A,downstream_gene_variant,,ENST00000427805,NM_021029.5;RPL36A,downstream_gene_variant,,ENST00000392994,;RPL36A,downstream_gene_variant,,ENST00000553110,;RPL36A,downstream_gene_variant,,ENST00000471855,;GLA,non_coding_transcript_exon_variant,,ENST00000468823,;GLA,non_coding_transcript_exon_variant,,ENST00000466414,;GLA,downstream_gene_variant,,ENST00000479445,;GLA,downstream_gene_variant,,ENST00000486121,;GLA,downstream_gene_variant,,ENST00000480513,;GLA,3_prime_UTR_variant,,ENST00000493905,;RPL36A,downstream_gene_variant,,ENST00000465340,;RPL36A,downstream_gene_variant,,ENST00000465744,;RPL36A,downstream_gene_variant,,ENST00000372849,;RPL36A,downstream_gene_variant,,ENST00000489407,;							MODERATE	805/1290		AGAL_HUMAN			Transcript		possibly_damaging(0.735)	.	ENSP00000218516		CCDS14484.1			1	
ANKDD1A	0	LGGM	GRCh37	15	65223737	65223737	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	17	3	.	.	ENST00000380230.3:c.722T>C	p.Val241Ala	p.V241A	ENST00000380230	NM_182703.3	241	gTg/gCg	0	1		UPI00020650F0	0	getma.org/pdb.php?prot=AKD1A_HUMAN&from=229&to=321&var=V241A	ENST00000319580		ENSG00000166839	28002		20	1.735		HGNC	p.V150A		ANKDD1A		SNV							ENST00000487867	protein_coding	getma.org/?cm=var&var=hg19,15,65223737,T,C&fts=all						C	low	499/512		getma.org/?cm=msa&ty=f&p=AKD1A_HUMAN&rb=229&re=321&var=V241A		E9PHA0_HUMAN				ANKDD1A,missense_variant,p.Val241Ala,ENST00000380230,NM_182703.3;ANKDD1A,missense_variant,p.Val241Ala,ENST00000357698,;ANKDD1A,missense_variant,p.Val241Ala,ENST00000395720,;ANKDD1A,missense_variant,p.Val150Ala,ENST00000496660,;ANKDD1A,missense_variant,p.Val102Ala,ENST00000483400,;ANKDD1A,missense_variant,p.Val150Ala,ENST00000395723,;ANKDD1A,3_prime_UTR_variant,,ENST00000319580,;AC069368.3,downstream_gene_variant,,ENST00000437723,;ANKDD1A,non_coding_transcript_exon_variant,,ENST00000491145,;ANKDD1A,non_coding_transcript_exon_variant,,ENST00000496480,;ANKDD1A,missense_variant,p.Val150Ala,ENST00000487867,;ANKDD1A,3_prime_UTR_variant,,ENST00000513267,;ANKDD1A,upstream_gene_variant,,ENST00000488082,;							MODIFIER	-/126	V241A				Transcript			.	ENSP00000325895					1	
KANSL1	0	LGGM	GRCh37	17	44111609	44111609	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	20	3	.	.	ENST00000262419.6:c.2584A>G	p.Ile862Val	p.I862V	ENST00000262419	NM_001193466.1	862	Att/Gtt	0	1		UPI0001AE66EA	0	NA	ENST00000574590		ENSG00000120071	24565		23	2.11		HGNC	p.I798V		KANSL1		SNV			1				ENST00000575318	protein_coding	getma.org/?cm=var&var=hg19,17,44111609,T,C&fts=all		hmmpanther:PTHR22443,hmmpanther:PTHR22443:SF14		I/V		C	medium	2811/5105		getma.org/?cm=msa&ty=f&p=KANL1_HUMAN&rb=801&re=1000&var=I862V	deleterious(0.01)	I3L243_HUMAN,I3L233_HUMAN				KANSL1,missense_variant,p.Ile862Val,ENST00000262419,NM_001193466.1;KANSL1,missense_variant,p.Ile156Val,ENST00000393476,;KANSL1,missense_variant,p.Ile862Val,ENST00000574590,NM_001193465.1;KANSL1,missense_variant,p.Ile862Val,ENST00000572904,NM_015443.3;KANSL1,missense_variant,p.Ile862Val,ENST00000432791,;KANSL1,missense_variant,p.Ile798Val,ENST00000575318,;RP11-669E14.6,upstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576137,;KANSL1,upstream_gene_variant,,ENST00000574963,;KANSL1,downstream_gene_variant,,ENST00000573286,;KANSL1,downstream_gene_variant,,ENST00000572679,;KANSL1,upstream_gene_variant,,ENST00000573682,;							MODERATE	2584/3318	I862V	KANL1_HUMAN			Transcript		possibly_damaging(0.832)	.	ENSP00000461812		CCDS11503.1			1	
IGSF3	0	LGGM	GRCh37	1	117158894	117158894	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110908	H110908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	13	3	.	.	ENST00000369483.1:c.229T>C	p.Ser77Pro	p.S77P	ENST00000369483	NM_001542.3	77	Tct/Cct	0	1		UPI00003FEC88	0	getma.org/pdb.php?prot=IGSF3_HUMAN&from=20&to=141&var=S77P	ENST00000369486		ENSG00000143061	5950		16	-0.81		HGNC	p.S77P	rs757297828	IGSF3	0.000211	SNV			1				ENST00000369483	protein_coding	getma.org/?cm=var&var=hg19,1,117158894,A,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR12207,hmmpanther:PTHR12207:SF21,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/P		G	neutral	995/7254		getma.org/?cm=msa&ty=f&p=IGSF3_HUMAN&rb=20&re=141&var=S77P	tolerated(1)					IGSF3,missense_variant,p.Ser77Pro,ENST00000369486,NM_001007237.2;IGSF3,missense_variant,p.Ser77Pro,ENST00000369483,NM_001542.3;IGSF3,missense_variant,p.Ser77Pro,ENST00000318837,;IGSF3,missense_variant,p.Ser3Pro,ENST00000481589,;							MODERATE	229/3585	S77P	IGSF3_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000358498	2.48E-05	CCDS30813.1			1	
UGT2B15	0	LGGM	GRCh37	4	69536159	69536159	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	24	3	.	.	ENST00000338206.5:c.178G>T	p.Ala60Ser	p.A60S	ENST00000338206	NM_001076.3	60	Gct/Tct	0	1	1	UPI000045721A	0	NA	ENST00000338206		ENSG00000196620	12546		27	0.945		HGNC	p.A60S		UGT2B15		SNV							ENST00000338206	protein_coding	getma.org/?cm=var&var=hg19,4,69536159,C,A&fts=all		Superfamily_domains:SSF53756,Pfam_domain:PF00201,hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF178		A/S		A	low	188/2077		getma.org/?cm=msa&ty=f&p=UDB15_HUMAN&rb=24&re=527&var=A60S	tolerated(0.28)				YES	UGT2B15,missense_variant,p.Ala60Ser,ENST00000338206,NM_001076.3;							MODERATE	178/1593	A60S	UDB15_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000341045		CCDS3524.1			1	
DOCK4	0	LGGM	GRCh37	7	111368647	111368647	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	36	3	.	.	ENST00000437633.1:c.5584A>T	p.Thr1862Ser	p.T1862S	ENST00000437633	NM_014705.3	1862	Acc/Tcc	0	1	1	UPI0000D5BB0D	0	NA	ENST00000437633		ENSG00000128512	19192		39	0.695		HGNC	p.T1862S		DOCK4		SNV							ENST00000437633	protein_coding	getma.org/?cm=var&var=hg19,7,111368647,T,A&fts=all		Low_complexity_(Seg):seg		T/S		A	neutral	5841/6212		getma.org/?cm=msa&ty=f&p=DOCK4_HUMAN&rb=1789&re=1966&var=T1862S	tolerated_low_confidence(0.65)	Q75MU6_HUMAN			YES	DOCK4,missense_variant,p.Thr1871Ser,ENST00000428084,;DOCK4,missense_variant,p.Thr1285Ser,ENST00000423057,;DOCK4,missense_variant,p.Thr1862Ser,ENST00000437633,NM_014705.3;DOCK4,missense_variant,p.Thr1895Ser,ENST00000445943,;DOCK4,missense_variant,p.Thr745Ser,ENST00000494651,;DOCK4,non_coding_transcript_exon_variant,,ENST00000494769,;DOCK4,non_coding_transcript_exon_variant,,ENST00000486186,;							MODERATE	5584/5901	T1862S	DOCK4_HUMAN			Transcript		benign(0.005)	.	ENSP00000404179		CCDS47688.1			1	
CNOT2	0	LGGM	GRCh37	12	70723203	70723203	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	32	3	.	.	ENST00000229195.3:c.239G>T	p.Ser80Ile	p.S80I	ENST00000229195	NM_014515.5	80	aGt/aTt	0	1	1	UPI0000052E12	0	NA	ENST00000229195		ENSG00000111596	7878		35	0.55		HGNC	p.S80I		CNOT2		SNV							ENST00000551043	protein_coding	getma.org/?cm=var&var=hg19,12,70723203,G,T&fts=all		hmmpanther:PTHR23326		S/I		T	neutral	818/3280		getma.org/?cm=msa&ty=f&p=CNOT2_HUMAN&rb=1&re=200&var=S80I	tolerated_low_confidence(0.09)	F8VWH8_HUMAN,F8VVY1_HUMAN,F8VUB4_HUMAN,F8VRS2_HUMAN,F8VQD8_HUMAN,F8VPX5_HUMAN,F8VP97_HUMAN			YES	CNOT2,missense_variant,p.Ser80Ile,ENST00000229195,NM_014515.5;CNOT2,missense_variant,p.Ser80Ile,ENST00000418359,NM_001199302.1;CNOT2,missense_variant,p.Ser71Ile,ENST00000548159,;CNOT2,missense_variant,p.Ser80Ile,ENST00000551043,NM_001199303.1;CNOT2,missense_variant,p.Ser80Ile,ENST00000552231,;CNOT2,missense_variant,p.Ser80Ile,ENST00000549750,;CNOT2,missense_variant,p.Ser80Ile,ENST00000552915,;CNOT2,missense_variant,p.Ser60Ile,ENST00000550641,;CNOT2,missense_variant,p.Ser80Ile,ENST00000550194,;CNOT2,missense_variant,p.Ser60Ile,ENST00000551132,;CNOT2,splice_region_variant,,ENST00000551873,;CNOT2,intron_variant,,ENST00000550160,;CNOT2,intron_variant,,ENST00000552483,;CNOT2,upstream_gene_variant,,ENST00000550155,;CNOT2,splice_region_variant,,ENST00000548230,;CNOT2,splice_region_variant,,ENST00000547149,;CNOT2,intron_variant,,ENST00000549443,;CNOT2,splice_region_variant,,ENST00000552151,;CNOT2,splice_region_variant,,ENST00000552319,;CNOT2,splice_region_variant,,ENST00000547321,;CNOT2,intron_variant,,ENST00000548863,;CNOT2,intron_variant,,ENST00000548021,;CNOT2,intron_variant,,ENST00000548599,;							MODERATE	239/1623	S80I	CNOT2_HUMAN			Transcript		benign(0.002)	.	ENSP00000229195		CCDS31857.1			1	
CR2	0	LGGM	GRCh37	1	207641871	207641871	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	32	4	.	.	ENST00000367057.3:c.446-1G>T		p.X149_splice	ENST00000367057	NM_001006658.2			0	1		UPI000013D4F7	0		ENST00000367058		ENSG00000117322	2336		36			HGNC	-		CR2		SNV			1				ENST00000367059	protein_coding							T		-/4063								CR2,splice_acceptor_variant,,ENST00000367057,NM_001006658.2;CR2,splice_acceptor_variant,,ENST00000367058,NM_001877.4;CR2,splice_acceptor_variant,,ENST00000367059,;CR2,splice_acceptor_variant,,ENST00000458541,;CR2,non_coding_transcript_exon_variant,,ENST00000485707,;CR2,downstream_gene_variant,,ENST00000479186,;CR2,upstream_gene_variant,,ENST00000475194,;							HIGH	446/3102		CR2_HUMAN			Transcript			.	ENSP00000356025		CCDS1478.1			1	
MYBPHL	0	LGGM	GRCh37	1	109839430	109839430	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	21	4	.	.	ENST00000357155.1:c.705G>A	p.Thr235=	p.T235=	ENST00000357155	NM_001265613.1	235	acG/acA	0	1	1	UPI000022B031	0		ENST00000357155		ENSG00000221986	30434	8.64E-05	25			HGNC	p.T235T	rs367617695	MYBPHL	6.06E-05	SNV	T:0						ENST00000357155	protein_coding			Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF40		T	T:0.0001	T		755/1372	0.00018						YES	MYBPHL,synonymous_variant,p.=,ENST00000357155,NM_001265613.1,NM_001010985.2;MYBPHL,intron_variant,,ENST00000477962,;MYBPHL,upstream_gene_variant,,ENST00000489706,;							LOW	705/1065		MBPHL_HUMAN			Transcript			.	ENSP00000349678	0.000115	CCDS30793.1			1	
POC1B-GALNT4	0	LGGM	GRCh37	12	89917803	89917803	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	28	4	.	.	ENST00000529983.2:c.524A>G	p.Asp175Gly	p.D175G	ENST00000529983	NM_003774.4	175	gAc/gGc	0	1	1	UPI0000228FE1	0	getma.org/pdb.php?prot=GALT4_HUMAN&from=138&to=321&var=D175G	ENST00000548729		ENSG00000259075	42957		32	4.335		HGNC	p.D175G		POC1B-GALNT4		SNV							ENST00000529983	protein_coding	getma.org/?cm=var&var=hg19,12,89917803,T,C&fts=all		hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF7,Gene3D:3.90.550.10,Pfam_domain:PF00535,Superfamily_domains:SSF53448		D/G		C	high	818/5436		getma.org/?cm=msa&ty=f&p=GALT4_HUMAN&rb=138&re=321&var=D175G	deleterious(0)	F8VUJ3_HUMAN			YES	POC1B-GALNT4,missense_variant,p.Asp172Gly,ENST00000548729,NM_001199781.1,NM_001199782.1;GALNT4,missense_variant,p.Asp175Gly,ENST00000529983,NM_003774.4;POC1B,intron_variant,,ENST00000393179,;POC1B,intron_variant,,ENST00000313546,NM_172240.2;POC1B-GALNT4,intron_variant,,ENST00000547474,;POC1B,intron_variant,,ENST00000549035,NM_001199777.1;GALNT4,intron_variant,,ENST00000413530,;POC1B,intron_variant,,ENST00000541909,;POC1B,intron_variant,,ENST00000549504,;RP11-734K2.4,upstream_gene_variant,,ENST00000605233,;POC1B,intron_variant,,ENST00000539190,;POC1B,intron_variant,,ENST00000547496,;POC1B,intron_variant,,ENST00000548715,;POC1B,intron_variant,,ENST00000552563,;POC1B,intron_variant,,ENST00000546830,;POC1B,intron_variant,,ENST00000547274,;							MODERATE	515/1728	D175G				Transcript		probably_damaging(0.999)	.	ENSP00000447852		CCDS55860.1			1	
FHL3	0	LGGM	GRCh37	1	38463709	38463709	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	46	4	.	.	ENST00000373016.3:c.427C>T	p.Pro143Ser	p.P143S	ENST00000373016	NM_001243878.1	143	Ccc/Tcc	0	1	1	UPI0000070486	0	getma.org/pdb.php?prot=FHL3_HUMAN&from=101&to=158&var=P143S	ENST00000373016		ENSG00000183386	3704		50	0.57		HGNC	p.P143S	COSM535000	FHL3		SNV						1	ENST00000373016	protein_coding	getma.org/?cm=var&var=hg19,1,38463709,G,A&fts=all		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_profiles:PS50023,hmmpanther:PTHR24205,hmmpanther:PTHR24205:SF5,SMART_domains:SM00132,Superfamily_domains:SSF57716		P/S		A	neutral	596/1647		getma.org/?cm=msa&ty=f&p=FHL3_HUMAN&rb=101&re=158&var=P143S	tolerated(0.21)	Q96C98_HUMAN			YES	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,;					1		MODERATE	427/843	P143S	FHL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362107		CCDS30678.1			1	
CDC25C	0	LGGM	GRCh37	5	137626375	137626375	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	27	4	.	.	ENST00000323760.6:c.817C>T	p.Leu273=	p.L273=	ENST00000323760	NM_001790.3	273	Ctg/Ttg	0	1	1	UPI000013E3D2	0		ENST00000323760		ENSG00000158402	1727		31			HGNC	p.L243L		CDC25C		SNV							ENST00000356505	protein_coding			hmmpanther:PTHR10828,hmmpanther:PTHR10828:SF28		L		A		1096/2128				D6RJC2_HUMAN			YES	CDC25C,synonymous_variant,p.=,ENST00000323760,NM_001790.3,NM_001287582.1;CDC25C,synonymous_variant,p.=,ENST00000356505,;CDC25C,synonymous_variant,p.=,ENST00000357274,;CDC25C,synonymous_variant,p.=,ENST00000513970,NM_001287583.1;CDC25C,synonymous_variant,p.=,ENST00000348983,NM_022809.2;CDC25C,synonymous_variant,p.=,ENST00000415130,;CDC25C,synonymous_variant,p.=,ENST00000514555,;CDC25C,synonymous_variant,p.=,ENST00000514017,;CDC25C,downstream_gene_variant,,ENST00000503022,;							LOW	817/1422		MPIP3_HUMAN			Transcript			.	ENSP00000321656		CCDS4202.1			1	
SF3B3	0	LGGM	GRCh37	16	70604025	70604025	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	11	4	.	.	ENST00000302516.5:c.3381C>T	p.Gly1127=	p.G1127=	ENST00000302516	NM_012426.4	1127	ggC/ggT	0	1	1	UPI0000167878	0		ENST00000302516		ENSG00000189091	10770		15			HGNC	p.G1127G		SF3B3		SNV							ENST00000302516	protein_coding			Pfam_domain:PF03178,hmmpanther:PTHR10644,hmmpanther:PTHR10644:SF1		G		T		3592/6969				J3QRB2_HUMAN,J3QL37_HUMAN,I3L4G7_HUMAN,H3BMB0_HUMAN,B3KM77_HUMAN			YES	SF3B3,synonymous_variant,p.=,ENST00000302516,NM_012426.4;SF3B3,non_coding_transcript_exon_variant,,ENST00000565990,;SF3B3,downstream_gene_variant,,ENST00000563739,;SF3B3,downstream_gene_variant,,ENST00000562722,;							LOW	3381/3654		SF3B3_HUMAN			Transcript			.	ENSP00000305790		CCDS10894.1			1	
CLMP	0	LGGM	GRCh37	11	122945497	122945497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	44	4	.	.	ENST00000448775.2:c.734C>A	p.Ala245Asp	p.A245D	ENST00000448775	NM_024769.2	245	gCc/gAc	0	1	1	UPI0000047815	0	NA	ENST00000448775		ENSG00000166250	24039		48	1.78		HGNC	p.A245D	rs751477599	CLMP	6.06E-05	SNV			1				ENST00000448775	protein_coding	getma.org/?cm=var&var=hg19,11,122945497,G,T&fts=all		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF73,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A/D		T	low	1075/2610		getma.org/?cm=msa&ty=f&p=CLMP_HUMAN&rb=226&re=373&var=A245D	deleterious(0.01)				YES	CLMP,missense_variant,p.Ala245Asp,ENST00000448775,NM_024769.2;CLMP,non_coding_transcript_exon_variant,,ENST00000530371,;CLMP,non_coding_transcript_exon_variant,,ENST00000527977,;							MODERATE	734/1122	A245D	CLMP_HUMAN			Transcript		possibly_damaging(0.649)	.	ENSP00000405577	8.27E-06	CCDS8441.1			1	
FCRL5	0	LGGM	GRCh37	1	157514798	157514798	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	49	4	.	.	ENST00000361835.3:c.382G>C	p.Glu128Gln	p.E128Q	ENST00000361835	NM_001195388.1	128	Gaa/Caa	0	1	1	UPI0000458907	0	getma.org/pdb.php?prot=FCRL5_HUMAN&from=103&to=185&var=E128Q	ENST00000361835		ENSG00000143297	18508		53	1.87		HGNC	p.E128Q		FCRL5		SNV							ENST00000361835	protein_coding	getma.org/?cm=var&var=hg19,1,157514798,C,G&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF49,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/Q		G	low	540/5390		getma.org/?cm=msa&ty=f&p=FCRL5_HUMAN&rb=103&re=185&var=E128Q	tolerated(0.44)				YES	FCRL5,missense_variant,p.Glu128Gln,ENST00000361835,NM_001195388.1,NM_031281.2;FCRL5,missense_variant,p.Glu128Gln,ENST00000368189,;FCRL5,missense_variant,p.Glu128Gln,ENST00000356953,;FCRL5,missense_variant,p.Glu128Gln,ENST00000368190,;FCRL5,missense_variant,p.Glu43Gln,ENST00000368191,;FCRL5,downstream_gene_variant,,ENST00000368188,;FCRL5,non_coding_transcript_exon_variant,,ENST00000481082,;							MODERATE	382/2934	E128Q	FCRL5_HUMAN			Transcript		benign(0.105)	.	ENSP00000354691		CCDS1165.1			1	
SLCO2B1	0	LGGM	GRCh37	11	74911392	74911392	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	33	4	.	.	ENST00000289575.5:c.1723G>A	p.Ala575Thr	p.A575T	ENST00000289575	NM_007256.4	575	Gcc/Acc	0	1	1	UPI000013DF8A	0	NA	ENST00000289575		ENSG00000137491	10962		37	0.535		HGNC	p.A575T		SLCO2B1		SNV							ENST00000289575	protein_coding	getma.org/?cm=var&var=hg19,11,74911392,G,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF03137,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF87,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805,Transmembrane_helices:TMhelix		A/T		A	neutral	2118/4494		getma.org/?cm=msa&ty=f&p=SO2B1_HUMAN&rb=48&re=648&var=A575T	deleterious(0.02)	E9PRW4_HUMAN,E9PN87_HUMAN,E9PIU9_HUMAN,E9PI53_HUMAN,E7ERN5_HUMAN,C7BWB7_HUMAN,C7BWB6_HUMAN,B4DJH3_HUMAN			YES	SLCO2B1,missense_variant,p.Ala575Thr,ENST00000289575,NM_007256.4;SLCO2B1,missense_variant,p.Ala348Thr,ENST00000341411,;SLCO2B1,missense_variant,p.Ala348Thr,ENST00000454962,;SLCO2B1,missense_variant,p.Ala459Thr,ENST00000532236,;SLCO2B1,missense_variant,p.Ala553Thr,ENST00000428359,NM_001145211.2;SLCO2B1,missense_variant,p.Ala431Thr,ENST00000525650,NM_001145212.2;SLCO2B1,missense_variant,p.Ala320Thr,ENST00000531756,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530015,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530012,;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000528108,;							MODERATE	1723/2130	A575T	SO2B1_HUMAN			Transcript		possibly_damaging(0.805)	.	ENSP00000289575		CCDS8235.1			1	
OR13C2	0	LGGM	GRCh37	9	107367396	107367396	+	frameshift_variant	Frame_Shift_Del	DEL	A	A	-	novel	by Submitter	H110908	H110908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	2	4	.	.	ENST00000542196.1:c.513del	p.Asn171LysfsTer15	p.N171Kfs*15	ENST00000542196	NM_001004481.1	171	aaT/aa	0	1	1	UPI0000041B29	0		ENST00000542196		ENSG00000257019	14701		6			HGNC	p.N171fs		OR13C2		deletion							ENST00000542196	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF23,Superfamily_domains:SSF81321		N/X		-		556/1028							YES	OR13C2,frameshift_variant,p.Asn171LysfsTer15,ENST00000542196,NM_001004481.1;							HIGH	513/957		O13C2_HUMAN			Transcript			.	ENSP00000438815		CCDS35092.1			1	
SLC39A12	0	LGGM	GRCh37	10	18250788	18250788	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	30	5	.	.	ENST00000377369.2:c.540C>A	p.Ser180Arg	p.S180R	ENST00000377369	NM_001145195.1	180	agC/agA	0	1	1	UPI00004044FC	0	NA	ENST00000377369		ENSG00000148482	20860		35	2.015		HGNC	p.S180R		SLC39A12		SNV							ENST00000377369	protein_coding	getma.org/?cm=var&var=hg19,10,18250788,C,A&fts=all		hmmpanther:PTHR12191,hmmpanther:PTHR12191:SF4		S/R		A	medium	813/2808		getma.org/?cm=msa&ty=f&p=S39AC_HUMAN&rb=1&re=200&var=S180R	deleterious(0.05)	F5GX72_HUMAN			YES	SLC39A12,missense_variant,p.Ser180Arg,ENST00000377369,NM_001145195.1;SLC39A12,missense_variant,p.Ser180Arg,ENST00000377371,NM_001282733.1;SLC39A12,missense_variant,p.Ser180Arg,ENST00000377374,NM_152725.3;SLC39A12,missense_variant,p.Ser46Arg,ENST00000539911,NM_001282734.1;							MODERATE	540/2076	S180R	S39AC_HUMAN			Transcript		benign(0.174)	.	ENSP00000366586		CCDS44362.1			1	
MSMB	0	LGGM	GRCh37	10	51556819	51556819	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	36	5	.	.	ENST00000358559.2:c.178T>C	p.Cys60Arg	p.C60R	ENST00000358559	NM_002443.3	60	Tgc/Cgc	0	1	1	UPI000012F617	0	getma.org/pdb.php?prot=MSMB_HUMAN&from=21&to=114&var=C60R	ENST00000358559		ENSG00000138294	7372		41	2.815		HGNC	p.C60R	rs782455187	MSMB		SNV			1				ENST00000358559	protein_coding	getma.org/?cm=var&var=hg19,10,51556819,T,C&fts=all		Pfam_domain:PF05825,hmmpanther:PTHR10500,hmmpanther:PTHR10500:SF2		C/R		C	medium	265/549	1.54E-05	getma.org/?cm=msa&ty=f&p=MSMB_HUMAN&rb=21&re=114&var=C60R	deleterious(0)				YES	MSMB,missense_variant,p.Cys60Arg,ENST00000358559,NM_002443.3;MSMB,intron_variant,,ENST00000298239,NM_138634.2;MSMB,non_coding_transcript_exon_variant,,ENST00000474170,;MSMB,non_coding_transcript_exon_variant,,ENST00000478719,;MSMB,non_coding_transcript_exon_variant,,ENST00000466268,;MSMB,downstream_gene_variant,,ENST00000487536,;							MODERATE	178/345	C60R	MSMB_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000351363	8.24E-06	CCDS7235.1			1	
SLC2A3	0	LGGM	GRCh37	12	8083847	8083847	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	30	5	.	.	ENST00000075120.7:c.504G>A	p.Val168=	p.V168=	ENST00000075120	NM_006931.2	168	gtG/gtA	0	1	1	UPI0000001C7D	0		ENST00000075120		ENSG00000059804	11007		35			HGNC	p.V137V		SLC2A3		SNV			1				ENST00000544291	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24063:SF322,hmmpanther:PTHR24063,TIGRFAM_domain:TIGR00879,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		V		T		745/3915							YES	SLC2A3,synonymous_variant,p.=,ENST00000075120,NM_006931.2;SLC2A3,synonymous_variant,p.=,ENST00000544291,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000486749,;SLC2A3,non_coding_transcript_exon_variant,,ENST00000495813,;SLC2A3,upstream_gene_variant,,ENST00000490763,;SLC2A3,upstream_gene_variant,,ENST00000479059,;SLC2A3,downstream_gene_variant,,ENST00000476634,;SLC2A3,downstream_gene_variant,,ENST00000541671,;SLC2A3,downstream_gene_variant,,ENST00000544936,;							LOW	504/1491		GTR3_HUMAN			Transcript			.	ENSP00000075120		CCDS8586.1			1	
CD164	0	LGGM	GRCh37	6	109699168	109699168	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	26	5	.	.	ENST00000310786.4:c.266G>A	p.Ser89Asn	p.S89N	ENST00000310786	NM_001142404.1	89	aGc/aAc	0	1	1	UPI000006EB36	0	NA	ENST00000310786		ENSG00000135535	1632		31	1.04		HGNC	p.S89N		CD164		SNV							ENST00000368961	protein_coding	getma.org/?cm=var&var=hg19,6,109699168,C,T&fts=all		Pfam_domain:PF05283,hmmpanther:PTHR11337,hmmpanther:PTHR11337:SF12		S/N		T	low	332/2993		getma.org/?cm=msa&ty=f&p=MUC24_HUMAN&rb=4&re=189&var=S89N	tolerated(0.18)				YES	CD164,missense_variant,p.Ser89Asn,ENST00000368961,;CD164,missense_variant,p.Ser89Asn,ENST00000310786,NM_001142404.1,NM_006016.4;CD164,missense_variant,p.Ser89Asn,ENST00000275080,NM_001142401.1;CD164,missense_variant,p.Ser89Asn,ENST00000324953,NM_001142402.1;CD164,missense_variant,p.Ser89Asn,ENST00000413644,NM_001142403.1;CD164,missense_variant,p.Ser55Asn,ENST00000504373,;CD164,missense_variant,p.Ser89Asn,ENST00000512821,;RP11-425D10.10,upstream_gene_variant,,ENST00000563105,;CD164,non_coding_transcript_exon_variant,,ENST00000506649,;CD164,non_coding_transcript_exon_variant,,ENST00000499860,;CD164,non_coding_transcript_exon_variant,,ENST00000512212,;							MODERATE	266/594	S89N	MUC24_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000309376		CCDS5073.1			1	
USP29	0	LGGM	GRCh37	19	57640418	57640418	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	37	5	.	.	ENST00000254181.4:c.375G>T	p.Met125Ile	p.M125I	ENST00000254181	NM_020903.2	125	atG/atT	0	1	1	UPI0000137A01	0	NA	ENST00000254181		ENSG00000131864	18563		42	-0.345		HGNC	p.M125I		USP29		SNV							ENST00000598197	protein_coding	getma.org/?cm=var&var=hg19,19,57640418,G,T&fts=all		hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006		M/I		T	neutral	829/3705		getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=104&re=281&var=M125I	tolerated(0.24)	M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,missense_variant,p.Met125Ile,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Met125Ile,ENST00000598197,;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;							MODERATE	375/2769	M125I	UBP29_HUMAN			Transcript		benign(0.001)	.	ENSP00000254181		CCDS33124.1			1	
EDN1	0	LGGM	GRCh37	6	12292675	12292675	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	28	6	.	.	ENST00000379375.5:c.166T>G	p.Ser56Ala	p.S56A	ENST00000379375	NM_001955.4	56	Tcg/Gcg	0	1	1	UPI000012A217	0	getma.org/pdb.php?prot=EDN1_HUMAN&from=49&to=78&var=S56A	ENST00000379375		ENSG00000078401	3176		34	1.05		HGNC	p.S56A		EDN1		SNV			1				ENST00000379375	protein_coding	getma.org/?cm=var&var=hg19,6,12292675,T,G&fts=all		Prints_domain:PR00365,SMART_domains:SM00272,Pfam_domain:PF00322,PROSITE_patterns:PS00270,hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF9,Low_complexity_(Seg):seg		S/A		G	low	433/2033		getma.org/?cm=msa&ty=f&p=EDN1_HUMAN&rb=49&re=78&var=S56A	tolerated(0.18)	Q6FH53_HUMAN			YES	EDN1,missense_variant,p.Ser56Ala,ENST00000379375,NM_001955.4,NM_001168319.1;							MODERATE	166/639	S56A	EDN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000368683		CCDS4522.1			1	
LEPRE1	0	LGGM	GRCh37	1	43228139	43228139	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	18	6	.	.	ENST00000236040.4:c.473A>G	p.Lys158Arg	p.K158R	ENST00000236040	NM_001243246.1	158	aAg/aGg	0	1		UPI000003B0B3	0	NA	ENST00000296388		ENSG00000117385	19316		24	1.78		HGNC	p.K158R		LEPRE1		SNV			1				ENST00000236040	protein_coding	getma.org/?cm=var&var=hg19,1,43228139,T,C&fts=all		hmmpanther:PTHR14049:SF5,hmmpanther:PTHR14049,Gene3D:1.25.40.10		K/R		C	low	525/2585		getma.org/?cm=msa&ty=f&p=P3H1_HUMAN&rb=1&re=200&var=K158R	tolerated(0.1)	B4DTG8_HUMAN,B4DNM8_HUMAN				LEPRE1,missense_variant,p.Lys158Arg,ENST00000236040,NM_001243246.1;LEPRE1,missense_variant,p.Lys158Arg,ENST00000397054,NM_022356.3,NM_001146289.1;LEPRE1,missense_variant,p.Lys158Arg,ENST00000296388,;LEPRE1,intron_variant,,ENST00000372526,;C1orf50,upstream_gene_variant,,ENST00000536543,;C1orf50,upstream_gene_variant,,ENST00000372525,NM_024097.3;LEPRE1,non_coding_transcript_exon_variant,,ENST00000492956,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000495874,;LEPRE1,non_coding_transcript_exon_variant,,ENST00000460031,;C1orf50,upstream_gene_variant,,ENST00000603943,;LEPRE1,upstream_gene_variant,,ENST00000463465,;C1orf50,upstream_gene_variant,,ENST00000464081,;							MODERATE	473/2211	K158R	P3H1_HUMAN			Transcript		benign(0.109)	.	ENSP00000296388		CCDS472.2			1	
APOB	0	LGGM	GRCh37	2	21227968	21227968	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	37	6	.	.	ENST00000233242.1:c.11772A>G	p.Leu3924=	p.L3924=	ENST00000233242	NM_000384.2	3924	ctA/ctG	0	1	1	UPI0000141B94	0		ENST00000233242		ENSG00000084674	603		43			HGNC	p.L3924L		APOB		SNV			1				ENST00000233242	protein_coding			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		L		C		11900/14121				S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;							LOW	11772/13692		APOB_HUMAN			Transcript			.	ENSP00000233242		CCDS1703.1			1	
GABRB3	0	LGGM	GRCh37	15	26825559	26825559	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	30	6	.	.	ENST00000311550.5:c.589G>C	p.Asp197His	p.D197H	ENST00000311550	NM_000814.5	197	Gac/Cac	0	1	1	UPI000012AFB0	0	getma.org/pdb.php?prot=GBRB3_HUMAN&from=37&to=243&var=D197H	ENST00000311550		ENSG00000166206	4083		36	2.35		HGNC	p.D126H		GABRB3		SNV			1				ENST00000400188	protein_coding	getma.org/?cm=var&var=hg19,15,26825559,C,G&fts=all		hmmpanther:PTHR18945:SF221,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02931,Gene3D:2.70.170.10,Superfamily_domains:0038932		D/H		G	medium	701/5781		getma.org/?cm=msa&ty=f&p=GBRB3_HUMAN&rb=37&re=243&var=D197H	deleterious(0.04)	G3V5B4_HUMAN			YES	GABRB3,missense_variant,p.Asp253His,ENST00000541819,;GABRB3,missense_variant,p.Asp197His,ENST00000311550,NM_000814.5,NM_001278631.1;GABRB3,missense_variant,p.Asp197His,ENST00000299267,NM_021912.4;GABRB3,missense_variant,p.Asp126His,ENST00000400188,NM_001191321.2;GABRB3,missense_variant,p.Asp112His,ENST00000545868,NM_001191320.1;GABRB3,missense_variant,p.Asp112His,ENST00000555094,;GABRB3,3_prime_UTR_variant,,ENST00000555632,;GABRB3,3_prime_UTR_variant,,ENST00000554556,;GABRB3,non_coding_transcript_exon_variant,,ENST00000557765,;							MODERATE	589/1422	D197H	GBRB3_HUMAN			Transcript		probably_damaging(0.972)	.	ENSP00000308725		CCDS10019.1			1	
ADPRH	0	LGGM	GRCh37	3	119306471	119306471	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	22	6	.	.	ENST00000478399.1:c.820G>T	p.Ala274Ser	p.A274S	ENST00000478399		274	Gcc/Tcc	0	1		UPI0000125ED7	0	getma.org/pdb.php?prot=ADPRH_HUMAN&from=6&to=327&var=A274S	ENST00000357003		ENSG00000144843	269		28	2.1		HGNC	p.A274S		ADPRH		SNV							ENST00000478927	protein_coding	getma.org/?cm=var&var=hg19,3,119306471,G,T&fts=all		hmmpanther:PTHR22957:SF223,hmmpanther:PTHR22957,Pfam_domain:PF03747,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888		A/S		T	medium	1118/3439		getma.org/?cm=msa&ty=f&p=ADPRH_HUMAN&rb=6&re=327&var=A274S	tolerated(0.08)	C9JZW7_HUMAN				ADPRH,missense_variant,p.Ala274Ser,ENST00000478399,;ADPRH,missense_variant,p.Ala274Ser,ENST00000357003,NM_001125.2;ADPRH,missense_variant,p.Ala274Ser,ENST00000478927,;ADPRH,missense_variant,p.Ala274Ser,ENST00000465513,;ADPRH,downstream_gene_variant,,ENST00000481816,;ADPRH,non_coding_transcript_exon_variant,,ENST00000471850,;ADPRH,downstream_gene_variant,,ENST00000485496,;							MODERATE	820/1074	A274S	ADPRH_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000349496		CCDS2990.1			1	
RAB3C	0	LGGM	GRCh37	5	58147114	58147114	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	45	6	.	.	ENST00000282878.4:c.620C>G	p.Ala207Gly	p.A207G	ENST00000282878	NM_138453.2	207	gCt/gGt	0	1	1	UPI0000133178	0	NA	ENST00000282878		ENSG00000152932	30269		51	-0.695		HGNC	p.A207G		RAB3C		SNV							ENST00000282878	protein_coding	getma.org/?cm=var&var=hg19,5,58147114,C,G&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS51419,hmmpanther:PTHR24073,hmmpanther:PTHR24073:SF445,SMART_domains:SM00176		A/G		G	neutral	789/8888		getma.org/?cm=msa&ty=f&p=RAB3C_HUMAN&rb=194&re=227&var=A207G	tolerated(1)				YES	RAB3C,missense_variant,p.Ala207Gly,ENST00000282878,NM_138453.2;CTD-2176I21.2,intron_variant,,ENST00000510198,;RAB3C,non_coding_transcript_exon_variant,,ENST00000381158,;							MODERATE	620/684	A207G	RAB3C_HUMAN			Transcript		benign(0.002)	.	ENSP00000282878		CCDS3976.1			1	
ZNF30	0	LGGM	GRCh37	19	35434421	35434421	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	33	6	.	.	ENST00000439785.1:c.554C>T	p.Ala185Val	p.A185V	ENST00000439785	NM_001099438.1	185	gCc/gTc	0	1		UPI0000E0464D	0	getma.org/pdb.php?prot=ZNF30_HUMAN&from=162&to=187&var=A184V	ENST00000601142		ENSG00000168661	13090		39	1.805		HGNC	p.A185V		ZNF30		SNV							ENST00000303586	protein_coding	getma.org/?cm=var&var=hg19,19,35434421,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF190,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/V		T	low	788/2280		getma.org/?cm=msa&ty=f&p=ZNF30_HUMAN&rb=142&re=207&var=A184V	tolerated(0.08)					ZNF30,missense_variant,p.Ala185Val,ENST00000439785,NM_001099438.1;ZNF30,missense_variant,p.Ala185Val,ENST00000303586,NM_194325.2,NM_001099437.1;ZNF30,missense_variant,p.Ala103Val,ENST00000426813,;ZNF30,missense_variant,p.Ala184Val,ENST00000601142,;ZNF30,3_prime_UTR_variant,,ENST00000601957,;ZNF30,downstream_gene_variant,,ENST00000595818,;							MODERATE	551/1872	A184V	ZNF30_HUMAN			Transcript		benign(0.345)	.	ENSP00000469954		CCDS46045.1			1	
MDN1	0	LGGM	GRCh37	6	90425413	90425413	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	42	7	.	.	ENST00000369393.3:c.6819A>G	p.Ile2273Met	p.I2273M	ENST00000369393		2273	atA/atG	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		49	2.36		HGNC	p.I2273M	rs765939198	MDN1	6.06E-05	SNV							ENST00000369393	protein_coding	getma.org/?cm=var&var=hg19,6,90425413,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF07728,PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		I/M		C	medium	6935/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=2208&re=2306&var=I2273M		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Ile2273Met,ENST00000369393,;MDN1,missense_variant,p.Ile2273Met,ENST00000428876,NM_014611.1;							MODERATE	6819/16791	I2273M	MDN1_HUMAN			Transcript		possibly_damaging(0.562)	.	ENSP00000358400	8.24E-06	CCDS5024.1			1	
A1CF	0	LGGM	GRCh37	10	52587975	52587975	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H110908	H110908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	36	7	.	.	ENST00000373995.3:c.709T>G	p.Ser237Ala	p.S237A	ENST00000373995	NM_138933.2	237	Tca/Gca	0	1		UPI0000071BDE	0	getma.org/pdb.php?prot=A1CF_HUMAN&from=204&to=232&var=S229A	ENST00000373993		ENSG00000148584	24086		43	0.405		HGNC	p.S229A		A1CF		SNV							ENST00000373993	protein_coding	getma.org/?cm=var&var=hg19,10,52587975,A,C&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR24012,hmmpanther:PTHR24012:SF313,Superfamily_domains:SSF54928,TIGRFAM_domain:TIGR01648		S/A		C	neutral	730/1997		getma.org/?cm=msa&ty=f&p=A1CF_HUMAN&rb=174&re=262&var=S229A	deleterious(0.04)	Q7Z2U9_HUMAN,Q5T0W7_HUMAN				A1CF,missense_variant,p.Ser229Ala,ENST00000374001,;A1CF,missense_variant,p.Ser222Ala,ENST00000395489,NM_001198819.1;A1CF,missense_variant,p.Ser237Ala,ENST00000373995,NM_138933.2;A1CF,missense_variant,p.Ser229Ala,ENST00000282641,NM_138932.2;A1CF,missense_variant,p.Ser229Ala,ENST00000373997,NM_001198820.1,NM_001198818.1,NM_014576.3;A1CF,missense_variant,p.Ser229Ala,ENST00000373993,;A1CF,intron_variant,,ENST00000395495,;RP11-449O16.2,upstream_gene_variant,,ENST00000438919,;A1CF,non_coding_transcript_exon_variant,,ENST00000493415,;A1CF,non_coding_transcript_exon_variant,,ENST00000473480,;							MODERATE	685/1785	S229A	A1CF_HUMAN			Transcript		benign(0.003)	.	ENSP00000363105		CCDS7242.1			1	
NBEA	0	LGGM	GRCh37	13	36180651	36180651	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	41	7	.	.	ENST00000400445.3:c.7385T>G	p.Val2462Gly	p.V2462G	ENST00000400445	NM_015678.4	2462	gTa/gGa	0	1	1	UPI00004FF92F	0	getma.org/pdb.php?prot=NBEA_HUMAN&from=2286&to=2563&var=V2462G	ENST00000400445		ENSG00000172915	7648		48	4.07		HGNC	p.V2462G		NBEA		SNV							ENST00000310336	protein_coding	getma.org/?cm=var&var=hg19,13,36180651,T,G&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837		V/G		G	high	7919/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=2286&re=2563&var=V2462G	deleterious(0)				YES	NBEA,missense_variant,p.Val2462Gly,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Val2462Gly,ENST00000540320,;NBEA,missense_variant,p.Val2462Gly,ENST00000310336,;NBEA,missense_variant,p.Val2459Gly,ENST00000379939,;NBEA,missense_variant,p.Val19Gly,ENST00000379922,;NBEA,missense_variant,p.Val255Gly,ENST00000537702,NM_001204197.1;							MODERATE	7385/8841	V2462G	NBEA_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000383295		CCDS45026.1			1	
SAMD7	0	LGGM	GRCh37	3	169644433	169644433	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110908	H110908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	43	7	.	.	ENST00000428432.2:c.383A>G	p.Tyr128Cys	p.Y128C	ENST00000428432	NM_182610.2	128	tAt/tGt	0	1		UPI00001A9D13	0	NA	ENST00000335556		ENSG00000187033	25394	8.64E-05	50	1.21		HGNC	p.Y128C	rs752219811	SAMD7		SNV							ENST00000428432	protein_coding	getma.org/?cm=var&var=hg19,3,169644433,A,G&fts=all		hmmpanther:PTHR12247:SF17,hmmpanther:PTHR12247		Y/C		G	low	749/2376	4.52E-05	getma.org/?cm=msa&ty=f&p=SAMD7_HUMAN&rb=1&re=288&var=Y128C	deleterious(0.04)					SAMD7,missense_variant,p.Tyr128Cys,ENST00000428432,NM_182610.2;SAMD7,missense_variant,p.Tyr128Cys,ENST00000335556,;SAMD7,3_prime_UTR_variant,,ENST00000487910,;							MODERATE	383/1341	Y128C	SAMD7_HUMAN			Transcript		benign(0.036)	.	ENSP00000334668	3.29E-05	CCDS3209.1			1	
KCTD16	0	LGGM	GRCh37	5	143853306	143853306	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	39	8	.	.	ENST00000507359.3:c.916T>C	p.Ser306Pro	p.S306P	ENST00000507359	NM_020768.3	306	Tct/Cct	0	1	1	UPI000004A046	0	NA	ENST00000507359		ENSG00000183775	29244		47	1.1		HGNC	p.S306P		KCTD16		SNV							ENST00000512467	protein_coding	getma.org/?cm=var&var=hg19,5,143853306,T,C&fts=all		hmmpanther:PTHR14499,hmmpanther:PTHR14499:SF28		S/P		C	low	2007/13950		getma.org/?cm=msa&ty=f&p=KCD16_HUMAN&rb=279&re=426&var=S306P	tolerated(0.07)				YES	KCTD16,missense_variant,p.Ser306Pro,ENST00000507359,NM_020768.3;KCTD16,missense_variant,p.Ser306Pro,ENST00000512467,;							MODERATE	916/1287	S306P	KCD16_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000426548		CCDS34260.1			1	
ESCO2	0	LGGM	GRCh37	8	27633038	27633038	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	47	8	.	.	ENST00000305188.8:c.7G>T	p.Ala3Ser	p.A3S	ENST00000305188	NM_001017420.2	3	Gct/Tct	0	1	1	UPI0000160D17	0	NA	ENST00000305188		ENSG00000171320	27230		55	0.895		HGNC	p.A3S		ESCO2		SNV			1				ENST00000305188	protein_coding	getma.org/?cm=var&var=hg19,8,27633038,G,T&fts=all				A/S		T	low	245/3922		getma.org/?cm=msa&ty=f&p=ESCO2_HUMAN&rb=1&re=47&var=A3S	tolerated(0.31)	E5RIE3_HUMAN,E5RFP7_HUMAN			YES	ESCO2,missense_variant,p.Ala3Ser,ENST00000305188,NM_001017420.2;ESCO2,missense_variant,p.Ala3Ser,ENST00000523566,;ESCO2,missense_variant,p.Ala3Ser,ENST00000519637,;ESCO2,5_prime_UTR_variant,,ENST00000397418,;CCDC25,upstream_gene_variant,,ENST00000356537,NM_018246.2;CCDC25,upstream_gene_variant,,ENST00000539095,;CCDC25,upstream_gene_variant,,ENST00000522915,;ESCO2,upstream_gene_variant,,ENST00000518262,;RNU6-1276P,downstream_gene_variant,,ENST00000365372,;ESCO2,upstream_gene_variant,,ENST00000523910,;ESCO2,missense_variant,p.Ala3Ser,ENST00000522378,;ESCO2,non_coding_transcript_exon_variant,,ENST00000524293,;CCDC25,upstream_gene_variant,,ENST00000520486,;CCDC25,upstream_gene_variant,,ENST00000520202,;CCDC25,upstream_gene_variant,,ENST00000519509,;CCDC25,upstream_gene_variant,,ENST00000523841,;CCDC25,upstream_gene_variant,,ENST00000517979,;CCDC25,upstream_gene_variant,,ENST00000524084,;							MODERATE	7/1806	A3S	ESCO2_HUMAN			Transcript		benign(0.024)	.	ENSP00000306999		CCDS34872.1			1	
FAM184B	0	LGGM	GRCh37	4	17706815	17706815	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	39	8	.	.	ENST00000265018.3:c.1185A>T	p.Ala395=	p.A395=	ENST00000265018	NM_015688.1	395	gcA/gcT	0	1	1	UPI000020BD7C	0		ENST00000265018		ENSG00000047662	29235		47			HGNC	p.A395A		FAM184B		SNV							ENST00000265018	protein_coding			hmmpanther:PTHR18870:SF8,hmmpanther:PTHR18870		A		A		1398/6622							YES	FAM184B,synonymous_variant,p.=,ENST00000265018,NM_015688.1;							LOW	1185/3183		F184B_HUMAN			Transcript			.	ENSP00000265018		CCDS47033.1			1	
ZNF114	0	LGGM	GRCh37	19	48789999	48789999	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	54	8	.	.	ENST00000595607.1:c.1118C>T	p.Ser373Phe	p.S373F	ENST00000595607		373	tCc/tTc	0	1		UPI000007282E	0	getma.org/pdb.php?prot=ZN114_HUMAN&from=371&to=375&var=S373F	ENST00000315849		ENSG00000178150	12894		62	1.65		HGNC	p.S373F		ZNF114		SNV							ENST00000315849	protein_coding	getma.org/?cm=var&var=hg19,19,48789999,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF6,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/F		T	low	1342/2206		getma.org/?cm=msa&ty=f&p=ZN114_HUMAN&rb=341&re=405&var=S373F	tolerated(0.08)	Q8N4J1_HUMAN				ZNF114,missense_variant,p.Ser373Phe,ENST00000595607,;ZNF114,missense_variant,p.Ser373Phe,ENST00000315849,NM_153608.1;ZNF114,missense_variant,p.Ser339Phe,ENST00000597695,;ZNF114,missense_variant,p.Ser373Phe,ENST00000600687,;ZNF114,downstream_gene_variant,,ENST00000595408,;ZNF114,downstream_gene_variant,,ENST00000594024,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;							MODERATE	1118/1254	S373F	ZN114_HUMAN			Transcript		possibly_damaging(0.485)	.	ENSP00000318898		CCDS12713.1			1	
SRSF11	0	LGGM	GRCh37	1	70687412	70687412	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	38	9	.	.	ENST00000370950.3:c.93C>T	p.Gly31=	p.G31=	ENST00000370950		31	ggC/ggT	0	1	1	UPI00001358C5	0		ENST00000370950		ENSG00000116754	10782		47			HGNC	p.G31G	rs751006080	SRSF11		SNV							ENST00000370950	protein_coding			hmmpanther:PTHR32343,hmmpanther:PTHR32343:SF6,Low_complexity_(Seg):seg		G		T		175/3784	1.52E-05			Q6N079_HUMAN			YES	SRSF11,synonymous_variant,p.=,ENST00000370950,;SRSF11,synonymous_variant,p.=,ENST00000370951,NM_001190987.1,NM_004768.3;SRSF11,synonymous_variant,p.=,ENST00000405432,;SRSF11,synonymous_variant,p.=,ENST00000395136,;SRSF11,synonymous_variant,p.=,ENST00000436161,;SRSF11,synonymous_variant,p.=,ENST00000454435,;RP4-677H15.4,upstream_gene_variant,,ENST00000422107,;SRSF11,non_coding_transcript_exon_variant,,ENST00000469170,;SRSF11,non_coding_transcript_exon_variant,,ENST00000486667,;SRSF11,non_coding_transcript_exon_variant,,ENST00000463877,;SRSF11,synonymous_variant,p.=,ENST00000473950,;SRSF11,synonymous_variant,p.=,ENST00000475204,;							LOW	93/1455		SRS11_HUMAN			Transcript			.	ENSP00000359988	8.24E-06	CCDS647.1			1	
FNDC3B	0	LGGM	GRCh37	3	171969178	171969178	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H110908	H110908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	45	10	.	.	ENST00000336824.4:c.637A>G	p.Ile213Val	p.I213V	ENST00000336824	NM_001135095.1	213	Atc/Gtc	0	1	1	UPI00001AE8B2	0	NA	ENST00000336824		ENSG00000075420	24670		55	1.39		HGNC	p.I213V	rs750812374	FNDC3B	0.000303	SNV							ENST00000416957	protein_coding	getma.org/?cm=var&var=hg19,3,171969178,A,G&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54		I/V		G	low	736/7904	1.50E-05	getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=201&re=276&var=I213V	tolerated(1)				YES	FNDC3B,missense_variant,p.Ile213Val,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Ile213Val,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Ile213Val,ENST00000416957,;FNDC3B,missense_variant,p.Ile186Val,ENST00000443501,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;							MODERATE	637/3615	I213V	FND3B_HUMAN			Transcript		benign(0.001)	.	ENSP00000338523	4.94E-05	CCDS3217.1			1	
EYS	0	LGGM	GRCh37	6	66115163	66115163	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	75	10	.	.	ENST00000503581.1:c.960C>A	p.Cys320Ter	p.C320*	ENST00000503581	NM_001142800.1	320	tgC/tgA	0	1		UPI0001AE72B3	0	NA	ENST00000370616		ENSG00000188107	21555		85	0		HGNC	p.C320X		EYS		SNV			1				ENST00000370621	protein_coding	getma.org/?cm=var&var=hg19,6,66115163,G,T&fts=all		SMART_domains:SM00181,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65		C/*		T	NA	960/9498		NA						EYS,stop_gained,p.Cys320Ter,ENST00000503581,NM_001142800.1;EYS,stop_gained,p.Cys320Ter,ENST00000370621,;EYS,stop_gained,p.Cys320Ter,ENST00000370616,;EYS,stop_gained,p.Cys320Ter,ENST00000393380,NM_001142801.1;EYS,stop_gained,p.Cys320Ter,ENST00000370618,;EYS,stop_gained,p.Cys320Ter,ENST00000342421,NM_198283.1;							HIGH	960/9498	C320*	EYS_HUMAN			Transcript			.	ENSP00000359650					1	
CHD7	0	LGGM	GRCh37	8	61763089	61763089	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	33	10	.	.	ENST00000423902.2:c.5442G>T	p.Ala1814=	p.A1814=	ENST00000423902	NM_017780.3	1814	gcG/gcT	0	1	1	UPI0000251DA6	0		ENST00000423902		ENSG00000171316	20626		43			HGNC	p.A1814A		CHD7		SNV			1				ENST00000307121	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551		A		T		5921/10446				H0YDC1_HUMAN,E9PP20_HUMAN			YES	CHD7,synonymous_variant,p.=,ENST00000423902,NM_017780.3;CHD7,intron_variant,,ENST00000524602,;CHD7,upstream_gene_variant,,ENST00000529472,;CHD7,upstream_gene_variant,,ENST00000527921,;							LOW	5442/8994		CHD7_HUMAN			Transcript			.	ENSP00000392028		CCDS47865.1			1	
TBC1D30	0	LGGM	GRCh37	12	65260630	65260630	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	57	10	.	.	ENST00000539867.1:c.1238C>A	p.Pro413His	p.P413H	ENST00000539867	NM_015279.1	413	cCt/cAt	0	1	1	UPI000013F308	0	NA	ENST00000539867		ENSG00000111490	29164		67	2.135		HGNC	p.P413H		TBC1D30		SNV							ENST00000539867	protein_coding	getma.org/?cm=var&var=hg19,12,65260630,C,A&fts=all		hmmpanther:PTHR22957:SF253,hmmpanther:PTHR22957		P/H		A	medium	1546/2594		getma.org/?cm=msa&ty=f&p=TBC30_HUMAN&rb=537&re=922&var=P576H	deleterious(0.01)	F8VZ81_HUMAN,F5H7L7_HUMAN			YES	TBC1D30,missense_variant,p.Pro299His,ENST00000542120,;TBC1D30,missense_variant,p.Pro576His,ENST00000229088,;TBC1D30,missense_variant,p.Pro413His,ENST00000539867,NM_015279.1;RPL7P39,downstream_gene_variant,,ENST00000481157,;							MODERATE	1238/2286	P576H	TBC30_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000440207		CCDS53813.1			1	
ZNF17	0	LGGM	GRCh37	19	57931874	57931874	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	58	10	.	.	ENST00000601808.1:c.1014C>G	p.Tyr338Ter	p.Y338*	ENST00000601808	NM_006959.2	338	taC/taG	0	1	1	UPI00001D8198	0	NA	ENST00000601808		ENSG00000186272	12958		68	0		HGNC	p.Y340X		ZNF17		SNV							ENST00000307658	protein_coding	getma.org/?cm=var&var=hg19,19,57931874,C,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF166,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/*		G	NA	1227/2524		NA					YES	ZNF17,stop_gained,p.Tyr340Ter,ENST00000307658,;ZNF17,stop_gained,p.Tyr338Ter,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,;							HIGH	1014/1989	Y338*	ZNF17_HUMAN			Transcript			.	ENSP00000471905		CCDS42636.1			1	
MAP2	0	LGGM	GRCh37	2	210561295	210561295	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	47	11	.	.	ENST00000360351.4:c.4210T>C	p.Leu1404=	p.L1404=	ENST00000360351	NM_002374.3	1404	Tta/Cta	0	1	1	UPI000013D119	0		ENST00000360351		ENSG00000078018	6839		58			HGNC	p.L1400L		MAP2		SNV							ENST00000447185	protein_coding			hmmpanther:PTHR11501:SF15,hmmpanther:PTHR11501,Pfam_domain:PF08377		L		C		4716/9711				A8MZ31_HUMAN			YES	MAP2,synonymous_variant,p.=,ENST00000360351,NM_002374.3;MAP2,synonymous_variant,p.=,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,downstream_gene_variant,,ENST00000445941,;MAP2,non_coding_transcript_exon_variant,,ENST00000475600,;MAP2,non_coding_transcript_exon_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000471619,;MAP2,downstream_gene_variant,,ENST00000461253,;MAP2,downstream_gene_variant,,ENST00000481649,;							LOW	4210/5484		MTAP2_HUMAN			Transcript			.	ENSP00000353508		CCDS2384.1			1	
DCBLD1	0	LGGM	GRCh37	6	117853494	117853494	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	25	11	.	.	ENST00000296955.8:c.657G>T	p.Val219=	p.V219=	ENST00000296955	NM_173674.1	219	gtG/gtT	0	1		UPI000021D1F9	0		ENST00000338728		ENSG00000164465	21479		36			HGNC	p.V219V		DCBLD1		SNV							ENST00000368503	protein_coding			PROSITE_profiles:PS50820,hmmpanther:PTHR24543,hmmpanther:PTHR24543:SF123,Gene3D:1jbiA00,Pfam_domain:PF03815,SMART_domains:SM00603,Superfamily_domains:0039469		V		T		777/3626				Q68DD5_HUMAN				DCBLD1,synonymous_variant,p.=,ENST00000338728,;DCBLD1,synonymous_variant,p.=,ENST00000296955,NM_173674.1;DCBLD1,synonymous_variant,p.=,ENST00000368503,;GOPC,intron_variant,,ENST00000467125,;DCBLD1,non_coding_transcript_exon_variant,,ENST00000533453,;							LOW	657/2148		DCBD1_HUMAN			Transcript			.	ENSP00000342422					1	
KIF14	0	LGGM	GRCh37	1	200574460	200574460	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	38	11	.	.	ENST00000367350.4:c.1697A>T	p.Lys566Ile	p.K566I	ENST00000367350	NM_014875.2	566	aAa/aTa	0	1	1	UPI000012DDA3	0	getma.org/pdb.php?prot=KIF14_HUMAN&from=364&to=701&var=K566I	ENST00000367350		ENSG00000118193	19181		49	2.485		HGNC	p.K566I		KIF14		SNV							ENST00000367350	protein_coding	getma.org/?cm=var&var=hg19,1,200574460,T,A&fts=all		Gene3D:3.40.850.10,Pfam_domain:PF00225,Prints_domain:PR00380,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF128,SMART_domains:SM00129,Superfamily_domains:SSF52540		K/I		A	medium	2136/7274		getma.org/?cm=msa&ty=f&p=KIF14_HUMAN&rb=364&re=701&var=K566I	deleterious(0)				YES	KIF14,missense_variant,p.Lys566Ile,ENST00000367350,NM_014875.2;							MODERATE	1697/4947	K566I	KIF14_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000356319		CCDS30963.1			1	
IFI16	0	LGGM	GRCh37	1	159021502	159021502	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	38	11	.	.	ENST00000368131.4:c.1531G>A	p.Val511Ile	p.V511I	ENST00000368131	NM_005531.2	511	Gtt/Att	0	1		UPI00001412BE	0	NA	ENST00000295809		ENSG00000163565	5395		49	-0.55		HGNC	p.V455I	rs376858619	IFI16		SNV	A:0						ENST00000448393	protein_coding	getma.org/?cm=var&var=hg19,1,159021502,G,A&fts=all		Gene3D:2.40.50.140,PROSITE_profiles:PS50834		V/I	A:0.0001	A	neutral	1954/2867	1.50E-05	getma.org/?cm=msa&ty=f&p=IF16_HUMAN&rb=562&re=761&var=V567I	tolerated(0.33)	H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN				IFI16,missense_variant,p.Val567Ile,ENST00000295809,;IFI16,missense_variant,p.Val511Ile,ENST00000368131,NM_005531.2;IFI16,missense_variant,p.Val511Ile,ENST00000368132,;IFI16,missense_variant,p.Val511Ile,ENST00000359709,NM_001206567.1;IFI16,missense_variant,p.Val515Ile,ENST00000430894,;IFI16,missense_variant,p.Val455Ile,ENST00000340979,;IFI16,missense_variant,p.Val455Ile,ENST00000448393,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000562225,;							MODERATE	1699/2358	V567I	IF16_HUMAN			Transcript		benign(0.027)	.	ENSP00000295809	8.24E-06				1	
TMEM184C	0	LGGM	GRCh37	4	148555519	148555519	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	39	11	.	.	ENST00000296582.3:c.1251T>A	p.Ser417=	p.S417=	ENST00000296582	NM_018241.2	417	tcT/tcA	0	1	1	UPI000013E360	0		ENST00000296582		ENSG00000164168	25587		50			HGNC	p.S417S		TMEM184C		SNV							ENST00000296582	protein_coding			hmmpanther:PTHR23423,hmmpanther:PTHR23423:SF10		S		A		1825/4178							YES	TMEM184C,synonymous_variant,p.=,ENST00000296582,NM_018241.2;TMEM184C,intron_variant,,ENST00000508208,;PRMT10,downstream_gene_variant,,ENST00000322396,NM_138364.2;PRMT10,downstream_gene_variant,,ENST00000541232,;TMEM184C,3_prime_UTR_variant,,ENST00000505999,;PRMT10,downstream_gene_variant,,ENST00000514886,;PRMT10,downstream_gene_variant,,ENST00000510269,;TMEM184C,downstream_gene_variant,,ENST00000506826,;PRMT10,downstream_gene_variant,,ENST00000511687,;							LOW	1251/1317		T184C_HUMAN			Transcript			.	ENSP00000296582		CCDS3770.1			1	
ZNF253	0	LGGM	GRCh37	19	20002752	20002752	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H110908	H110908N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	54	12	.	.	ENST00000589717.1:c.696A>T	p.Glu232Asp	p.E232D	ENST00000589717	NM_021047.2	232	gaA/gaT	0	1	1	UPI0000070CE8	0	getma.org/pdb.php?prot=ZN253_HUMAN&from=214&to=239&var=E232D	ENST00000589717		ENSG00000256771	13497		66	1.21		HGNC	p.E156D		ZNF253		SNV							ENST00000355650	protein_coding	getma.org/?cm=var&var=hg19,19,20002752,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/D		T	low	788/3519		getma.org/?cm=msa&ty=f&p=ZN253_HUMAN&rb=194&re=259&var=E232D	tolerated(0.06)	K7EP55_HUMAN			YES	ZNF253,missense_variant,p.Glu232Asp,ENST00000589717,NM_021047.2;ZNF253,missense_variant,p.Glu156Asp,ENST00000355650,;ZNF253,missense_variant,p.Glu168Asp,ENST00000592725,;AC011477.1,downstream_gene_variant,,ENST00000578823,;CTC-559E9.8,downstream_gene_variant,,ENST00000585571,;							MODERATE	696/1500	E232D	ZN253_HUMAN			Transcript		benign(0.061)	.	ENSP00000468720		CCDS42532.1			1	
PPP6R2	0	LGGM	GRCh37	22	50845236	50845236	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	113	12	.	.	ENST00000395741.3:c.346C>A	p.Leu116Ile	p.L116I	ENST00000395741		116	Ctc/Atc	0	1		UPI00001B31C3	0	NA	ENST00000216061		ENSG00000100239	19253		125	3.18		HGNC	p.L116I		PPP6R2		SNV							ENST00000395741	protein_coding	getma.org/?cm=var&var=hg19,22,50845236,C,A&fts=all		hmmpanther:PTHR12634,hmmpanther:PTHR12634:SF15,Superfamily_domains:SSF48371		L/I		A	medium	716/3415		getma.org/?cm=msa&ty=f&p=PP6R2_HUMAN&rb=1&re=127&var=L116I	deleterious(0.01)					PPP6R2,missense_variant,p.Leu116Ile,ENST00000359139,NM_014678.4,NM_001242900.1,NM_001242899.1,NM_001242898.1;PPP6R2,missense_variant,p.Leu116Ile,ENST00000216061,;PPP6R2,missense_variant,p.Leu116Ile,ENST00000395741,;PPP6R2,missense_variant,p.Leu116Ile,ENST00000395744,;							MODERATE	346/2901	L116I	PP6R2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000216061					1	
NRK	0	LGGM	GRCh37	X	105153257	105153257	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	15	12	.	.	ENST00000428173.2:c.1627C>A	p.His543Asn	p.H543N	ENST00000428173		543	Cac/Aac	0	1		UPI0000418886	0	NA	ENST00000243300		ENSG00000123572	25391		27	1.04		HGNC	p.H542N		NRK		SNV							ENST00000243300	protein_coding	getma.org/?cm=var&var=hg19,X,105153257,C,A&fts=all		hmmpanther:PTHR24361:SF216,hmmpanther:PTHR24361,Gene3D:1.10.510.10		H/N		A	low	1927/8062		getma.org/?cm=msa&ty=f&p=NRK_HUMAN&rb=391&re=579&var=H542N	deleterious(0)	B7Z6I7_HUMAN				NRK,missense_variant,p.His543Asn,ENST00000428173,;NRK,missense_variant,p.His542Asn,ENST00000243300,NM_198465.2;							MODERATE	1624/4749	H542N	NRK_HUMAN			Transcript		benign(0.013)	.	ENSP00000434830		CCDS65305.1			1	
UBR4	0	LGGM	GRCh37	1	19493573	19493573	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	71	12	.	.	ENST00000375254.3:c.4052A>G	p.Tyr1351Cys	p.Y1351C	ENST00000375254	NM_020765.2	1351	tAt/tGt	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		83	1.15		HGNC	p.Y61C	COSM3740886,COSM3740885	UBR4		SNV						1,1	ENST00000417040	protein_coding	getma.org/?cm=var&var=hg19,1,19493573,T,C&fts=all		hmmpanther:PTHR21725,Superfamily_domains:SSF48371		Y/C		C	low	4080/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=Y1351C		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Tyr1351Cys,ENST00000375267,;UBR4,missense_variant,p.Tyr1351Cys,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Tyr1351Cys,ENST00000375217,;UBR4,missense_variant,p.Tyr1351Cys,ENST00000375226,;UBR4,missense_variant,p.Tyr61Cys,ENST00000417040,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;					1,1		MODERATE	4052/15552	Y1351C	UBR4_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000364403		CCDS189.1			1	
ZNF850	0	LGGM	GRCh37	19	37253222	37253222	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	59	12	.	.	ENST00000591344.1:c.124A>G	p.Ser42Gly	p.S42G	ENST00000591344	NM_001193552.1	42	Agc/Ggc	0	1	1	UPI00001D815D	0	getma.org/pdb.php?prot=ZN850_HUMAN&from=7&to=47&var=S42G	ENST00000591344		ENSG00000267041	27994		71	2.33		HGNC	p.S42G		ZNF850		SNV							ENST00000589390	protein_coding	getma.org/?cm=var&var=hg19,19,37253222,T,C&fts=all		PROSITE_profiles:PS50805,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		S/G		C	medium	283/7714		getma.org/?cm=msa&ty=f&p=ZN850_HUMAN&rb=7&re=47&var=S42G	deleterious(0)				YES	ZNF850,missense_variant,p.Ser42Gly,ENST00000591344,NM_001193552.1,NM_001267779.1;ZNF850,missense_variant,p.Ser42Gly,ENST00000589390,;							MODERATE	124/3273	S42G	ZN850_HUMAN			Transcript		benign(0.418)	.	ENSP00000464976		CCDS59379.1			1	
PCDHB4	0	LGGM	GRCh37	5	140503771	140503771	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	56	14	.	.	ENST00000194152.1:c.2191T>C	p.Phe731Leu	p.F731L	ENST00000194152	NM_018938.2	731	Ttt/Ctt	0	1	1	UPI00001273DF	0	NA	ENST00000194152		ENSG00000081818	8689		70	2.81		HGNC	p.F731L	COSM1542281	PCDHB4		SNV						1	ENST00000194152	protein_coding	getma.org/?cm=var&var=hg19,5,140503771,T,C&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF55		F/L		C	medium	2191/3621		getma.org/?cm=msa&ty=f&p=PCDB4_HUMAN&rb=663&re=795&var=F731L	deleterious_low_confidence(0.02)				YES	PCDHB4,missense_variant,p.Phe731Leu,ENST00000194152,NM_018938.2;AC005754.8,downstream_gene_variant,,ENST00000606030,;					1		MODERATE	2191/2388	F731L	PCDB4_HUMAN			Transcript		benign(0.109)	.	ENSP00000194152		CCDS4246.1			1	
BRINP3	0	LGGM	GRCh37	1	190067860	190067860	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H110908	H110908N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	40	15	.	.	ENST00000367462.3:c.1589G>A	p.Arg530His	p.R530H	ENST00000367462	NM_199051.1	530	cGt/cAt	0	1	1	UPI00001C1D9A	0	NA	ENST00000367462		ENSG00000162670	22393		55	2.25		HGNC	p.R530H	COSM1206400	BRINP3		SNV						1	ENST00000367462	protein_coding	getma.org/?cm=var&var=hg19,1,190067860,C,T&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF2		R/H		T	medium	1821/2889		getma.org/?cm=msa&ty=f&p=FAM5C_HUMAN&rb=400&re=599&var=R530H	deleterious(0)				YES	BRINP3,missense_variant,p.Arg530His,ENST00000367462,NM_199051.1;BRINP3,missense_variant,p.Arg428His,ENST00000534846,;					1		MODERATE	1589/2301	R530H	BRNP3_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000356432		CCDS1373.1			1	
MRPL47	0	LGGM	GRCh37	3	179306705	179306705	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	40	19	.	.	ENST00000476781.1:c.708A>G	p.Lys236=	p.K236=	ENST00000476781	NM_020409.2	236	aaA/aaG	0	1	1	UPI000013D022	0		ENST00000476781		ENSG00000136522	16652		59			HGNC	p.K216K		MRPL47		SNV							ENST00000259038	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21183,hmmpanther:PTHR21183:SF18		K		C		738/1370							YES	MRPL47,synonymous_variant,p.=,ENST00000476781,NM_020409.2;MRPL47,synonymous_variant,p.=,ENST00000259038,;MRPL47,synonymous_variant,p.=,ENST00000392659,NM_177988.1;ACTL6A,downstream_gene_variant,,ENST00000429709,NM_004301.3;ACTL6A,downstream_gene_variant,,ENST00000392662,NM_178042.2;ACTL6A,downstream_gene_variant,,ENST00000450518,NM_177989.2;RP11-145M9.6,upstream_gene_variant,,ENST00000610007,;ACTL6A,downstream_gene_variant,,ENST00000461125,;ACTL6A,downstream_gene_variant,,ENST00000484312,;							LOW	708/753		RM47_HUMAN			Transcript			.	ENSP00000417602		CCDS3232.1			1	
SIDT1	0	LGGM	GRCh37	3	113286453	113286453	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	93	20	.	.	ENST00000264852.4:c.411G>C	p.Glu137Asp	p.E137D	ENST00000264852	NM_017699.2	137	gaG/gaC	0	1	1	UPI000013D581	0	NA	ENST00000264852		ENSG00000072858	25967		113	1.04		HGNC	p.E137D		SIDT1		SNV							ENST00000393830	protein_coding	getma.org/?cm=var&var=hg19,3,113286453,G,C&fts=all		hmmpanther:PTHR12185,hmmpanther:PTHR12185:SF15		E/D		C	low	1137/5080		getma.org/?cm=msa&ty=f&p=SIDT1_HUMAN&rb=1&re=183&var=E137D	tolerated(0.07)	B4E0H9_HUMAN			YES	SIDT1,missense_variant,p.Glu137Asp,ENST00000264852,NM_017699.2;SIDT1,missense_variant,p.Glu137Asp,ENST00000393830,;SIDT1,non_coding_transcript_exon_variant,,ENST00000491730,;SIDT1,non_coding_transcript_exon_variant,,ENST00000483946,;							MODERATE	411/2484	E137D	SIDT1_HUMAN			Transcript		benign(0.002)	.	ENSP00000264852		CCDS2974.1			1	
FAM47C	0	LGGM	GRCh37	X	37028215	37028215	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110908	H110908N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	46	20	.	.	ENST00000358047.3:c.1732G>A	p.Gly578Arg	p.G578R	ENST00000358047	NM_001013736.2	578	Gga/Aga	0	1	1	UPI000041ABF8	0	NA	ENST00000358047		ENSG00000198173	25301		66	0		HGNC	p.G578R		FAM47C		SNV							ENST00000358047	protein_coding	getma.org/?cm=var&var=hg19,X,37028215,G,A&fts=all		Pfam_domain:PF14642,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF203		G/R		A	neutral	1784/3308		getma.org/?cm=msa&ty=f&p=FA47C_HUMAN&rb=380&re=579&var=G578R	tolerated_low_confidence(0.51)				YES	FAM47C,missense_variant,p.Gly578Arg,ENST00000358047,NM_001013736.2;							MODERATE	1732/3108	G578R	FA47C_HUMAN			Transcript		benign(0.265)	.	ENSP00000367913		CCDS35227.1			1	
OR2M5	0	LGGM	GRCh37	1	248308922	248308922	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H110908	H110908N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110908N.bam, H110908T.bam	Illumina HiSeq	151	23	.	.	ENST00000366476.1:c.473T>G	p.Ile158Ser	p.I158S	ENST00000366476	NM_001004690.1	158	aTt/aGt	0	1	1	UPI00001612E2	0	NA	ENST00000366476		ENSG00000162727	19576		174	1.94		HGNC	p.I158S		OR2M5		SNV							ENST00000366476	protein_coding	getma.org/?cm=var&var=hg19,1,248308922,T,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF28,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		I/S		G	medium	473/939		getma.org/?cm=msa&ty=f&p=OR2M5_HUMAN&rb=139&re=283&var=I158S	deleterious(0)				YES	OR2M5,missense_variant,p.Ile158Ser,ENST00000366476,NM_001004690.1;							MODERATE	473/939	I158S	OR2M5_HUMAN			Transcript		possibly_damaging(0.905)	.	ENSP00000355432		CCDS31105.1			1	
FABP5	0	LGGM	GRCh37	8	82195636	82195636	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	27	3	.	.	ENST00000297258.6:c.115G>A	p.Ala39Thr	p.A39T	ENST00000297258	NM_001444.2	39	Gcc/Acc	0	1	1	UPI000004068E	0	getma.org/pdb.php?prot=FB5L3_HUMAN&from=2&to=100&var=A5T	ENST00000297258		ENSG00000164687	3560		30	1.26		HGNC	p.A39T		FABP5		SNV							ENST00000297258	protein_coding	getma.org/?cm=var&var=hg19,8,82195636,G,A&fts=all		Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955,hmmpanther:PTHR11955:SF58,Superfamily_domains:SSF50814		A/T		A	low	348/851		getma.org/?cm=msa&ty=f&p=FB5L3_HUMAN&rb=2&re=100&var=A5T	tolerated(0.52)	I6L8B7_HUMAN,E7DVW5_HUMAN			YES	FABP5,missense_variant,p.Ala5Thr,ENST00000396359,;FABP5,missense_variant,p.Ala39Thr,ENST00000297258,NM_001444.2;RP11-363E6.3,upstream_gene_variant,,ENST00000518880,;RP11-363E6.3,upstream_gene_variant,,ENST00000517670,;FABP5,non_coding_transcript_exon_variant,,ENST00000481695,;FABP5,non_coding_transcript_exon_variant,,ENST00000486269,;							MODERATE	115/408	A5T	FABP5_HUMAN			Transcript		probably_damaging(0.92)	.	ENSP00000297258		CCDS6228.1			1	
CEBPE	0	LGGM	GRCh37	14	23586859	23586859	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	36	4	.	.	ENST00000206513.5:c.683G>A	p.Arg228His	p.R228H	ENST00000206513	NM_001805.3	228	cGc/cAc	0	1	1	UPI000013C660	0	getma.org/pdb.php?prot=CEBPE_HUMAN&from=203&to=256&var=R228H	ENST00000206513		ENSG00000092067	1836		40	3.36		HGNC	p.R228H		CEBPE		SNV			1				ENST00000206513	protein_coding	getma.org/?cm=var&var=hg19,14,23586859,C,T&fts=all		Gene3D:1.20.5.170,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF07716,PIRSF_domain:PIRSF005879,PROSITE_profiles:PS50217,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF17,SMART_domains:SM00338,Superfamily_domains:SSF57959		R/H		T	medium	1208/1554		getma.org/?cm=msa&ty=f&p=CEBPE_HUMAN&rb=203&re=256&var=R228H	deleterious(0)				YES	CEBPE,missense_variant,p.Arg228His,ENST00000206513,NM_001805.3;							MODERATE	683/846	R228H	CEBPE_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000206513		CCDS9589.1			1	
HPCAL4	0	LGGM	GRCh37	1	40149761	40149761	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	5	4	.	.	ENST00000372844.3:c.226G>C	p.Gly76Arg	p.G76R	ENST00000372844	NM_016257.2	76	Ggc/Cgc	0	1	1	UPI0000073F20	0	getma.org/pdb.php?prot=HPCL4_HUMAN&from=64&to=125&var=G76R	ENST00000372844		ENSG00000116983	18212		9	1.335		HGNC	p.G76R	rs756698753	HPCAL4		SNV							ENST00000372844	protein_coding	getma.org/?cm=var&var=hg19,1,40149761,C,G&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF00036,Prints_domain:PR00450,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR23055,hmmpanther:PTHR23055:SF84,SMART_domains:SM00054,Superfamily_domains:SSF47473		G/R		G	low	618/4856	1.52E-05	getma.org/?cm=msa&ty=f&p=HPCL4_HUMAN&rb=64&re=125&var=G76R	tolerated(0.27)	B4DG51_HUMAN			YES	HPCAL4,missense_variant,p.Gly76Arg,ENST00000372844,NM_016257.2,NM_001282397.1,NM_001282396.1;							MODERATE	226/576	G76R	HPCL4_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000361935	8.24E-06	CCDS441.1			1	
SDK1	0	LGGM	GRCh37	7	4002295	4002295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	11	7	.	.	ENST00000404826.2:c.1241C>A	p.Pro414His	p.P414H	ENST00000404826	NM_152744.3	414	cCc/cAc	0	1	1	UPI0000DBEEC4	0	getma.org/pdb.php?prot=SDK1_HUMAN&from=386&to=475&var=P414H	ENST00000404826		ENSG00000146555	19307		18	3.605		HGNC	p.P414H	rs756852528	SDK1		SNV							ENST00000389531	protein_coding	getma.org/?cm=var&var=hg19,7,4002295,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF36,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		P/H		A	high	1380/10397	1.56E-05	getma.org/?cm=msa&ty=f&p=SDK1_HUMAN&rb=386&re=475&var=P414H	deleterious(0)				YES	SDK1,missense_variant,p.Pro414His,ENST00000404826,NM_152744.3;SDK1,missense_variant,p.Pro414His,ENST00000389531,;SDK1,downstream_gene_variant,,ENST00000426596,;							MODERATE	1241/6642	P414H	SDK1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000385899	1.65E-05	CCDS34590.1			1	
IARS2	0	LGGM	GRCh37	1	220318983	220318983	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	24	7	.	.	ENST00000302637.5:c.2884A>T	p.Ile962Phe	p.I962F	ENST00000302637	NM_018060.3	962	Atc/Ttc	0	1		UPI00001D69E8	0	NA	ENST00000366922		ENSG00000067704	29685		31	0.55		HGNC	p.I962F		IARS2		SNV							ENST00000302637	protein_coding	getma.org/?cm=var&var=hg19,1,220318983,A,T&fts=all		Superfamily_domains:SSF47323,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF9,HAMAP:MF_02002		I/F		T	neutral	2999/3557		getma.org/?cm=msa&ty=f&p=SYIM_HUMAN&rb=924&re=983&var=I962F	deleterious(0.04)	F6SBX2_HUMAN				IARS2,missense_variant,p.Ile890Phe,ENST00000366922,;IARS2,missense_variant,p.Ile962Phe,ENST00000302637,NM_018060.3;RAB3GAP2,downstream_gene_variant,,ENST00000358951,NM_012414.3;IARS2,downstream_gene_variant,,ENST00000467924,;RPS15AP12,upstream_gene_variant,,ENST00000419498,;							MODERATE	2668/2823	I962F				Transcript		probably_damaging(0.98)	.	ENSP00000355889					1	
C10orf85	0	LGGM	GRCh37	10	122357841	122357841	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	14	8	.	.	ENST00000369071.2:c.19G>T	p.Gly7Trp	p.G7W	ENST00000369071		7	Ggg/Tgg	0	1	1	UPI000006E382	0		ENST00000369071		ENSG00000177234	31365		22			HGNC	p.G7W		C10orf85		SNV							ENST00000369071	protein_coding					G/W		T		121/1909			deleterious_low_confidence(0.04)				YES	C10orf85,missense_variant,p.Gly7Trp,ENST00000369071,;							MODERATE	19/387		CJ085_HUMAN			Transcript		benign(0.003)	.	ENSP00000358067					1	
ZNF81	0	LGGM	GRCh37	X	47747485	47747485	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	1	8	.	.	ENST00000376954.1:c.142G>T	p.Asp48Tyr	p.D48Y	ENST00000376954		48	Gat/Tat	0	1		UPI000023FCDA	0	getma.org/pdb.php?prot=ZNF81_HUMAN&from=21&to=61&var=D48Y	ENST00000338637		ENSG00000197779	13156		9	3.65		HGNC	p.D48Y		ZNF81		SNV			1				ENST00000376954	protein_coding	getma.org/?cm=var&var=hg19,X,47747485,G,T&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF5,SMART_domains:SM00349		D/Y		T	high	391/7859		getma.org/?cm=msa&ty=f&p=ZNF81_HUMAN&rb=21&re=61&var=D48Y	deleterious(0)					ZNF81,missense_variant,p.Asp48Tyr,ENST00000376954,;ZNF81,missense_variant,p.Asp48Tyr,ENST00000338637,NM_007137.3;ZNF81,missense_variant,p.Asp48Tyr,ENST00000334937,;ZNF81,missense_variant,p.Asp48Tyr,ENST00000376950,;							MODERATE	142/1986	D48Y	ZNF81_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000341151		CCDS43933.1			1	
LMTK2	0	LGGM	GRCh37	7	97823667	97823667	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	21	8	.	.	ENST00000297293.5:c.3890A>G	p.Asp1297Gly	p.D1297G	ENST00000297293	NM_014916.3	1297	gAc/gGc	0	1	1	UPI000014F277	0	NA	ENST00000297293		ENSG00000164715	17880		29	2.255		HGNC	p.D1297G		LMTK2		SNV							ENST00000297293	protein_coding	getma.org/?cm=var&var=hg19,7,97823667,A,G&fts=all		Low_complexity_(Seg):seg		D/G		G	medium	4183/8946		getma.org/?cm=msa&ty=f&p=LMTK2_HUMAN&rb=736&re=1310&var=D1297G	deleterious(0)				YES	LMTK2,missense_variant,p.Asp1297Gly,ENST00000297293,NM_014916.3;							MODERATE	3890/4512	D1297G	LMTK2_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000297293		CCDS5654.1			1	
MYH11	0	LGGM	GRCh37	16	15850277	15850277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	4	8	.	.	ENST00000396324.3:c.1691A>G	p.Gln564Arg	p.Q564R	ENST00000396324	NM_001040114.1	564	cAg/cGg	0	1		UPI000012FB86	0	getma.org/pdb.php?prot=MYH11_HUMAN&from=87&to=771&var=Q557R	ENST00000300036		ENSG00000133392	7569		12	1.23		HGNC	p.Q564R		MYH11		SNV			1				ENST00000396324	protein_coding	getma.org/?cm=var&var=hg19,16,15850277,T,C&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF335,SMART_domains:SM00242,Superfamily_domains:SSF52540		Q/R		C	low	1780/6029		getma.org/?cm=msa&ty=f&p=MYH11_HUMAN&rb=87&re=771&var=Q557R		Q68D89_HUMAN,Q66K75_HUMAN				MYH11,missense_variant,p.Gln564Arg,ENST00000452625,NM_001040113.1;MYH11,missense_variant,p.Gln564Arg,ENST00000396324,NM_001040114.1;MYH11,missense_variant,p.Gln557Arg,ENST00000576790,NM_022844.2;MYH11,missense_variant,p.Gln557Arg,ENST00000300036,NM_002474.2;MYH11,non_coding_transcript_exon_variant,,ENST00000570785,;							MODERATE	1670/5919	Q557R	MYH11_HUMAN			Transcript		benign(0.079)	.	ENSP00000300036		CCDS10565.1			1	
CAMSAP3	0	LGGM	GRCh37	19	7677837	7677837	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	5	9	.	.	ENST00000446248.2:c.2539G>T	p.Val847Leu	p.V847L	ENST00000446248	NM_001080429.2	847	Gtg/Ttg	0	1		UPI0000197405	0	NA	ENST00000160298		ENSG00000076826	29307		14	1.185		HGNC	p.V820L		CAMSAP3		SNV							ENST00000160298	protein_coding	getma.org/?cm=var&var=hg19,19,7677837,G,T&fts=all		hmmpanther:PTHR21595,hmmpanther:PTHR21595:SF2		V/L		T	low	2559/3889		getma.org/?cm=msa&ty=f&p=CAMP3_HUMAN&rb=716&re=915&var=V820L	deleterious(0.03)	Q8WZ12_HUMAN				CAMSAP3,missense_variant,p.Val847Leu,ENST00000446248,NM_001080429.2;CAMSAP3,missense_variant,p.Val820Leu,ENST00000160298,NM_020902.1;CAMSAP3,upstream_gene_variant,,ENST00000595692,;CAMSAP3,upstream_gene_variant,,ENST00000593434,;							MODERATE	2458/3750	V820L	CAMP3_HUMAN			Transcript		benign(0.235)	.	ENSP00000160298		CCDS42489.1			1	
AP3D1	0	LGGM	GRCh37	19	2120862	2120862	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	12	9	.	.	ENST00000355272.6:c.1480G>C	p.Glu494Gln	p.E494Q	ENST00000355272	NM_001261826.1	494	Gag/Cag	0	1		UPI0000125031	0	getma.org/pdb.php?prot=AP3D1_HUMAN&from=32&to=583&var=E494Q	ENST00000345016		ENSG00000065000	568		21	1.13		HGNC	p.E494Q		AP3D1		SNV							ENST00000355272	protein_coding	getma.org/?cm=var&var=hg19,19,2120862,C,G&fts=all		Superfamily_domains:SSF48371,PIRSF_domain:PIRSF037092,Gene3D:1.25.10.10,Pfam_domain:PF01602,hmmpanther:PTHR22781		E/Q		G	low	1712/4871		getma.org/?cm=msa&ty=f&p=AP3D1_HUMAN&rb=32&re=583&var=E494Q	tolerated(0.23)	Q9UEB0_HUMAN,Q9UEA9_HUMAN,B3KSV6_HUMAN				AP3D1,missense_variant,p.Glu494Gln,ENST00000355272,NM_001261826.1;AP3D1,missense_variant,p.Glu494Gln,ENST00000345016,NM_003938.6;AP3D1,missense_variant,p.Glu403Gln,ENST00000356926,;AP3D1,missense_variant,p.Glu325Gln,ENST00000350812,;AP3D1,downstream_gene_variant,,ENST00000590683,;AP3D1,upstream_gene_variant,,ENST00000591631,;AP3D1,upstream_gene_variant,,ENST00000586177,;							MODERATE	1480/3462	E494Q	AP3D1_HUMAN			Transcript		benign(0.065)	.	ENSP00000344055		CCDS42459.1			1	
PAPPA2	0	LGGM	GRCh37	1	176659612	176659612	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	21	9	.	.	ENST00000367662.3:c.2431+46G>A		*811*	ENST00000367662	NM_020318.2			0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		30			HGNC	p.G826D		PAPPA2		SNV							ENST00000367661	protein_coding							A		-/9685							YES	PAPPA2,missense_variant,p.Gly826Asp,ENST00000367661,NM_021936.2;PAPPA2,intron_variant,,ENST00000367662,NM_020318.2;							MODIFIER	-/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634		CCDS41438.1			1	
SLC1A7	0	LGGM	GRCh37	1	53558401	53558401	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	3	9	.	.	ENST00000371494.4:c.856C>G	p.Pro286Ala	p.P286A	ENST00000371494	NM_006671.4	286	Ccc/Gcc	0	1	1	UPI000013DED8	0	getma.org/pdb.php?prot=EAA5_HUMAN&from=19&to=476&var=P286A	ENST00000371494		ENSG00000162383	10945		12	1.525		HGNC	p.P286A		SLC1A7		SNV							ENST00000371494	protein_coding	getma.org/?cm=var&var=hg19,1,53558401,G,C&fts=all		hmmpanther:PTHR11958:SF22,hmmpanther:PTHR11958,Gene3D:2nwlC00,Pfam_domain:PF00375,Superfamily_domains:0053221		P/A		C	low	984/2637		getma.org/?cm=msa&ty=f&p=EAA5_HUMAN&rb=19&re=476&var=P286A	tolerated(0.09)	F1T0D2_HUMAN			YES	SLC1A7,missense_variant,p.Pro286Ala,ENST00000371494,NM_006671.4;SLC1A7,upstream_gene_variant,,ENST00000488036,;							MODERATE	856/1683	P286A	EAA5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000360549		CCDS574.1			1	
GFI1B	0	LGGM	GRCh37	9	135864466	135864466	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	14	10	.	.	ENST00000339463.3:c.529G>A	p.Gly177Arg	p.G177R	ENST00000339463		177	Ggg/Agg	0	1	1	UPI000013E4EE	0	getma.org/pdb.php?prot=GFI1B_HUMAN&from=177&to=203&var=G177R	ENST00000339463		ENSG00000165702	4238		24	0.945		HGNC	p.G177R		GFI1B		SNV			1				ENST00000450530	protein_coding	getma.org/?cm=var&var=hg19,9,135864466,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF126,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/R		A	low	1348/2449		getma.org/?cm=msa&ty=f&p=GFI1B_HUMAN&rb=157&re=223&var=G177R	deleterious(0)				YES	GFI1B,missense_variant,p.Gly177Arg,ENST00000339463,;GFI1B,missense_variant,p.Gly177Arg,ENST00000450530,NM_004188.4;GFI1B,missense_variant,p.Gly177Arg,ENST00000372122,;GFI1B,intron_variant,,ENST00000372124,;GFI1B,intron_variant,,ENST00000534944,NM_001135031.1;GFI1B,intron_variant,,ENST00000372123,;							MODERATE	529/993	G177R	GFI1B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000344782		CCDS6957.1			1	
TJAP1	0	LGGM	GRCh37	6	43470071	43470071	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	7	10	.	.	ENST00000372445.5:c.341A>G	p.Asp114Gly	p.D114G	ENST00000372445	NM_001146016.1	114	gAc/gGc	0	1	1	UPI00004A3A96	0	NA	ENST00000372445		ENSG00000137221	17949		17	2.08		HGNC	p.D114G		TJAP1		SNV							ENST00000436109	protein_coding	getma.org/?cm=var&var=hg19,6,43470071,A,G&fts=all		Coiled-coils_(Ncoils):Coil		D/G		G	medium	717/2751		getma.org/?cm=msa&ty=f&p=TJAP1_HUMAN&rb=1&re=556&var=D114G	deleterious(0.02)	E2QRK7_HUMAN,B3KT40_HUMAN			YES	TJAP1,missense_variant,p.Asp72Gly,ENST00000454762,;TJAP1,missense_variant,p.Asp114Gly,ENST00000372444,NM_001146018.1;TJAP1,missense_variant,p.Asp114Gly,ENST00000372445,NM_001146016.1;TJAP1,missense_variant,p.Asp114Gly,ENST00000259751,NM_080604.2;TJAP1,missense_variant,p.Asp114Gly,ENST00000438588,NM_001146017.1;TJAP1,missense_variant,p.Asp114Gly,ENST00000372449,;TJAP1,missense_variant,p.Asp114Gly,ENST00000372452,NM_001146019.1;TJAP1,missense_variant,p.Asp114Gly,ENST00000436109,NM_001146020.1;TJAP1,missense_variant,p.Asp114Gly,ENST00000442878,;LRRC73,downstream_gene_variant,,ENST00000372441,NM_001271882.1,NM_001012974.2;TJAP1,downstream_gene_variant,,ENST00000372454,;TJAP1,non_coding_transcript_exon_variant,,ENST00000483640,;TJAP1,non_coding_transcript_exon_variant,,ENST00000490050,;TJAP1,non_coding_transcript_exon_variant,,ENST00000478173,;TJAP1,non_coding_transcript_exon_variant,,ENST00000459851,;							MODERATE	341/1674	D114G	TJAP1_HUMAN			Transcript		benign(0.392)	.	ENSP00000361522		CCDS55004.1			1	
ZBTB43	0	LGGM	GRCh37	9	129595272	129595272	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	13	12	.	.	ENST00000373464.4:c.484C>T	p.His162Tyr	p.H162Y	ENST00000373464	NM_014007.3	162	Cat/Tat	0	1		UPI000013C34F	0	NA	ENST00000373457		ENSG00000169155	17908		25	0		HGNC	p.H162Y		ZBTB43		SNV							ENST00000373457	protein_coding	getma.org/?cm=var&var=hg19,9,129595272,C,T&fts=all		hmmpanther:PTHR23229,hmmpanther:PTHR23229:SF13		H/Y		T	neutral	1585/5695		getma.org/?cm=msa&ty=f&p=ZBT43_HUMAN&rb=128&re=167&var=H162Y	tolerated(0.06)	Q5JU97_HUMAN				ZBTB43,missense_variant,p.His162Tyr,ENST00000373464,NM_014007.3;ZBTB43,missense_variant,p.His162Tyr,ENST00000449886,NM_001135776.1;ZBTB43,missense_variant,p.His162Tyr,ENST00000373457,;ZBTB43,missense_variant,p.His162Tyr,ENST00000450858,;ZBTB43,upstream_gene_variant,,ENST00000497064,;							MODERATE	484/1404	H162Y	ZBT43_HUMAN			Transcript		benign(0.012)	.	ENSP00000362556		CCDS6867.1			1	
BCL2L1	0	LGGM	GRCh37	20	30309706	30309706	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	31	12	.	.	ENST00000307677.4:c.316A>G	p.Ser106Gly	p.S106G	ENST00000307677	NM_138578.1	106	Agt/Ggt	0	1	1	UPI0000000CEC	0	getma.org/pdb.php?prot=B2CL1_HUMAN&from=90&to=188&var=S106G	ENST00000307677		ENSG00000171552	992		43	1.725		HGNC	p.S106G		BCL2L1		SNV							ENST00000439267	protein_coding	getma.org/?cm=var&var=hg19,20,30309706,T,C&fts=all		Gene3D:1.10.437.10,Pfam_domain:PF00452,Prints_domain:PR01864,PROSITE_profiles:PS50062,hmmpanther:PTHR11256,hmmpanther:PTHR11256:SF12,SMART_domains:SM00337,Superfamily_domains:SSF56854,TIGRFAM_domain:TIGR00865		S/G		C	low	727/2610		getma.org/?cm=msa&ty=f&p=B2CL1_HUMAN&rb=90&re=188&var=S106G	deleterious(0.05)	Q9H1R6_HUMAN,Q5TE64_HUMAN,Q5QP59_HUMAN,Q5QP56_HUMAN			YES	BCL2L1,missense_variant,p.Ser106Gly,ENST00000307677,NM_138578.1;BCL2L1,missense_variant,p.Ser106Gly,ENST00000420653,;BCL2L1,missense_variant,p.Ser106Gly,ENST00000376062,;BCL2L1,missense_variant,p.Ser106Gly,ENST00000376055,NM_001191.2;BCL2L1,missense_variant,p.Ser106Gly,ENST00000422920,;BCL2L1,missense_variant,p.Ser106Gly,ENST00000456404,;BCL2L1,missense_variant,p.Ser106Gly,ENST00000450273,;BCL2L1,missense_variant,p.Ser106Gly,ENST00000420488,;BCL2L1,missense_variant,p.Ser106Gly,ENST00000439267,;BCL2L1,downstream_gene_variant,,ENST00000434194,;AL160175.1,downstream_gene_variant,,ENST00000597287,;							MODERATE	316/702	S106G	B2CL1_HUMAN			Transcript		benign(0.002)	.	ENSP00000302564		CCDS13189.1			1	
NPLOC4	0	LGGM	GRCh37	17	79539108	79539108	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	8	12	.	.	ENST00000331134.6:c.1288G>C	p.Asp430His	p.D430H	ENST00000331134	NM_017921.2	430	Gac/Cac	0	1	1	UPI0000070BDD	0	NA	ENST00000331134		ENSG00000182446	18261		20	3.205		HGNC	p.D269H		NPLOC4		SNV							ENST00000539314	protein_coding	getma.org/?cm=var&var=hg19,17,79539108,C,G&fts=all		hmmpanther:PTHR12710,Pfam_domain:PF05021,PIRSF_domain:PIRSF010052		D/H		G	medium	1504/4415		getma.org/?cm=msa&ty=f&p=NPL4_HUMAN&rb=248&re=557&var=D430H	deleterious(0)				YES	NPLOC4,missense_variant,p.Asp430His,ENST00000374747,;NPLOC4,missense_variant,p.Asp430His,ENST00000331134,NM_017921.2;NPLOC4,missense_variant,p.Asp269His,ENST00000539314,;NPLOC4,upstream_gene_variant,,ENST00000571714,;NPLOC4,upstream_gene_variant,,ENST00000573519,;NPLOC4,upstream_gene_variant,,ENST00000572824,;Y_RNA,upstream_gene_variant,,ENST00000384294,;NPLOC4,upstream_gene_variant,,ENST00000576940,;NPLOC4,3_prime_UTR_variant,,ENST00000574897,;NPLOC4,non_coding_transcript_exon_variant,,ENST00000576713,;NPLOC4,upstream_gene_variant,,ENST00000573212,;							MODERATE	1288/1827	D430H	NPL4_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000331487		CCDS45812.1			1	
USP34	0	LGGM	GRCh37	2	61416096	61416096	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	23	13	.	.	ENST00000398571.2:c.9982C>T	p.Gln3328Ter	p.Q3328*	ENST00000398571	NM_014709.3	3328	Caa/Taa	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		36	0		HGNC	p.Q206X		USP34		SNV							ENST00000436269	protein_coding	getma.org/?cm=var&var=hg19,2,61416096,G,A&fts=all		Coiled-coils_(Ncoils):Coil		Q/*		A	NA	10059/11357		NA					YES	USP34,stop_gained,p.Gln3328Ter,ENST00000398571,NM_014709.3;USP34,stop_gained,p.Gln1005Ter,ENST00000411912,;USP34,stop_gained,p.Gln206Ter,ENST00000436269,;AHSA2,3_prime_UTR_variant,,ENST00000394457,;AHSA2,downstream_gene_variant,,ENST00000357022,NM_152392.3;AHSA2,downstream_gene_variant,,ENST00000410073,;USP34,non_coding_transcript_exon_variant,,ENST00000492604,;AHSA2,downstream_gene_variant,,ENST00000489653,;AHSA2,downstream_gene_variant,,ENST00000493628,;AHSA2,downstream_gene_variant,,ENST00000491217,;USP34,downstream_gene_variant,,ENST00000463046,;AHSA2,downstream_gene_variant,,ENST00000471542,;USP34,downstream_gene_variant,,ENST00000490552,;AHSA2,downstream_gene_variant,,ENST00000484217,;AHSA2,downstream_gene_variant,,ENST00000487904,;USP34,downstream_gene_variant,,ENST00000498268,;							HIGH	9982/10641	Q3328*	UBP34_HUMAN			Transcript			.	ENSP00000381577		CCDS42686.1			1	
LARS	0	LGGM	GRCh37	5	145510643	145510643	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	10	13	.	.	ENST00000394434.2:c.2426A>T	p.Asp809Val	p.D809V	ENST00000394434	NM_020117.9	809	gAt/gTt	0	1	1	UPI0000037316	0	getma.org/pdb.php?prot=SYLC_HUMAN&from=794&to=928&var=D809V	ENST00000394434		ENSG00000133706	6512		23	2.005		HGNC	p.D763V		LARS		SNV			1				ENST00000545646	protein_coding	getma.org/?cm=var&var=hg19,5,145510643,T,A&fts=all		hmmpanther:PTHR11946:SF51,hmmpanther:PTHR11946,Gene3D:1.10.730.10,Pfam_domain:PF08264,TIGRFAM_domain:TIGR00395,Superfamily_domains:SSF47323		D/V		A	medium	2593/4766		getma.org/?cm=msa&ty=f&p=SYLC_HUMAN&rb=794&re=928&var=D809V	deleterious(0.03)	Q9NVC0_HUMAN,Q9NPU8_HUMAN,Q9HAM7_HUMAN,Q2TU79_HUMAN,B4DJ10_HUMAN,B3KXA9_HUMAN			YES	LARS,missense_variant,p.Asp809Val,ENST00000394434,NM_020117.9;LARS,missense_variant,p.Asp782Val,ENST00000274562,;LARS,missense_variant,p.Asp763Val,ENST00000545646,;LARS,missense_variant,p.Asp755Val,ENST00000510191,;LARS,downstream_gene_variant,,ENST00000512412,;LARS,non_coding_transcript_exon_variant,,ENST00000506231,;LARS,upstream_gene_variant,,ENST00000508709,;LARS,upstream_gene_variant,,ENST00000504611,;							MODERATE	2426/3531	D809V	SYLC_HUMAN			Transcript		benign(0.065)	.	ENSP00000377954		CCDS34265.1			1	
ADCY8	0	LGGM	GRCh37	8	131848681	131848681	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	21	13	.	.	ENST00000286355.5:c.2517G>A	p.Thr839=	p.T839=	ENST00000286355	NM_001115.2	839	acG/acA	0	1	1	UPI000012887C	0		ENST00000286355		ENSG00000155897	239		34			HGNC	p.T839T	rs755447347	ADCY8		SNV							ENST00000286355	protein_coding			hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229,Transmembrane_helices:TMhelix		T		T		4610/5938	1.51E-05			E5RFR2_HUMAN			YES	ADCY8,synonymous_variant,p.=,ENST00000286355,NM_001115.2;ADCY8,synonymous_variant,p.=,ENST00000377928,;							LOW	2517/3756		ADCY8_HUMAN			Transcript			.	ENSP00000286355	8.24E-06	CCDS6363.1			1	
CSNK2A1	0	LGGM	GRCh37	20	472946	472946	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	18	13	.	.	ENST00000217244.3:c.573A>C	p.Arg191=	p.R191=	ENST00000217244	NM_177559.2	191	cgA/cgC	0	1	1	UPI0000000CB5	0		ENST00000217244		ENSG00000101266	2457		31			HGNC	p.R191R		CSNK2A1		SNV							ENST00000400227	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24054:SF28,hmmpanther:PTHR24054,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		R		G		949/4416							YES	CSNK2A1,synonymous_variant,p.=,ENST00000217244,NM_177559.2;CSNK2A1,synonymous_variant,p.=,ENST00000349736,NM_001895.3;CSNK2A1,synonymous_variant,p.=,ENST00000400227,;CSNK2A1,synonymous_variant,p.=,ENST00000400217,NM_177560.2;CSNK2A1,downstream_gene_variant,,ENST00000460062,;							LOW	573/1176		CSK21_HUMAN			Transcript			.	ENSP00000217244		CCDS13003.1			1	
KRT25	0	LGGM	GRCh37	17	38911480	38911480	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	9	13	.	.	ENST00000312150.4:c.44G>C	p.Arg15Pro	p.R15P	ENST00000312150	NM_181534.3	15	cGt/cCt	0	1	1	UPI000019B3C3	0	NA	ENST00000312150		ENSG00000204897	30839		22	0.895		HGNC	p.R15P		KRT25		SNV							ENST00000312150	protein_coding	getma.org/?cm=var&var=hg19,17,38911480,C,G&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF160		R/P		G	low	105/1670		getma.org/?cm=msa&ty=f&p=K1C25_HUMAN&rb=1&re=77&var=R15P	tolerated(0.06)				YES	KRT25,missense_variant,p.Arg15Pro,ENST00000312150,NM_181534.3;							MODERATE	44/1353	R15P	K1C25_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000310573		CCDS11373.1			1	
SLCO4A1	0	LGGM	GRCh37	20	61288307	61288307	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	12	14	.	.	ENST00000217159.1:c.501G>A	p.Gly167=	p.G167=	ENST00000217159	NM_016354.3	167	ggG/ggA	0	1	1	UPI00000557C6	0		ENST00000217159		ENSG00000101187	10953		26			HGNC	p.G167G		SLCO4A1		SNV							ENST00000217159	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF66,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805		G		A		706/2776							YES	SLCO4A1,synonymous_variant,p.=,ENST00000217159,NM_016354.3;SLCO4A1,synonymous_variant,p.=,ENST00000370507,;SLCO4A1,synonymous_variant,p.=,ENST00000497209,;							LOW	501/2169		SO4A1_HUMAN			Transcript			.	ENSP00000217159		CCDS13501.1			1	
TP53	0	LGGM	GRCh37	17	7577555	7577555	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	1	14	.	.	ENST00000269305.4:c.726C>T	p.Cys242=	p.C242=	ENST00000269305	NM_001126112.2	242	tgC/tgT	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		15			HGNC	p.C242C	rs375874539,TP53_g.13363C>T,COSM45691	TP53		SNV	A:0,A:0		1			0,0,1	ENST00000269305	protein_coding			Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		C	A:0.0001,A:0.0001	A		916/2579				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			YES	TP53,synonymous_variant,p.=,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,synonymous_variant,p.=,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,synonymous_variant,p.=,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,synonymous_variant,p.=,ENST00000445888,;TP53,synonymous_variant,p.=,ENST00000359597,;TP53,synonymous_variant,p.=,ENST00000413465,;TP53,synonymous_variant,p.=,ENST00000509690,;TP53,synonymous_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,;					0,0,1		LOW	726/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
NLRP7	0	LGGM	GRCh37	19	55442021	55442021	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	35	14	.	.	ENST00000588756.1:c.2656A>G	p.Ser886Gly	p.S886G	ENST00000588756		886	Agc/Ggc	0	1		UPI0000046432	0	getma.org/pdb.php?prot=NALP7_HUMAN&from=875&to=897&var=S886G	ENST00000340844		ENSG00000167634	22947		49	0.54		HGNC	p.S914G		NLRP7		SNV			1				ENST00000446217	protein_coding	getma.org/?cm=var&var=hg19,19,55442021,T,C&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24106,hmmpanther:PTHR24106:SF87,SMART_domains:SM00368,Superfamily_domains:SSF52047		S/G		C	neutral	2732/3250		getma.org/?cm=msa&ty=f&p=NALP7_HUMAN&rb=855&re=917&var=S886G	tolerated(0.33)	K7ER92_HUMAN,K7EPY3_HUMAN,K7EP54_HUMAN				NLRP7,missense_variant,p.Ser886Gly,ENST00000588756,;NLRP7,missense_variant,p.Ser914Gly,ENST00000446217,;NLRP7,missense_variant,p.Ser858Gly,ENST00000448121,NM_139176.3,NM_001127255.1;NLRP7,missense_variant,p.Ser858Gly,ENST00000328092,;NLRP7,missense_variant,p.Ser886Gly,ENST00000592784,;NLRP7,missense_variant,p.Ser886Gly,ENST00000340844,NM_206828.3;NLRP7,missense_variant,p.Ser886Gly,ENST00000590030,;NLRP7,missense_variant,p.Ser886Gly,ENST00000586379,;							MODERATE	2656/2943	S886G	NALP7_HUMAN			Transcript		benign(0.02)	.	ENSP00000339491		CCDS33109.1			1	
TP53	0	LGGM	GRCh37	17	7577556	7577556	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	1	14	.	.	ENST00000269305.4:c.725G>T	p.Cys242Phe	p.C242F	ENST00000269305	NM_001126112.2	242	tGc/tTc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=C242F	ENST00000269305		ENSG00000141510	11998		15	3.345		HGNC	p.C242F	TP53_g.13362G>T,COSM10810,COSM129834,COSM129835,COSM3378347,COSM1646852,COSM129836	TP53		SNV			1			0,1,1,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577556,C,A&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,PROSITE_patterns:PS00348,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		C/F		A	medium	915/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=C242F	deleterious(0)	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			YES	TP53,missense_variant,p.Cys242Phe,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Cys242Phe,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Cys242Phe,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Cys242Phe,ENST00000445888,;TP53,missense_variant,p.Cys242Phe,ENST00000359597,;TP53,missense_variant,p.Cys242Phe,ENST00000413465,;TP53,missense_variant,p.Cys110Phe,ENST00000509690,;TP53,missense_variant,p.Cys149Phe,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,;					0,1,1,1,1,1,1		MODERATE	725/1182	C242F	P53_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000269305		CCDS11118.1			1	
NXF1	0	LGGM	GRCh37	11	62568820	62568820	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	5	14	.	.	ENST00000532297.1:c.779T>C	p.Ile260Thr	p.I260T	ENST00000532297		260	aTt/aCt	0	1		UPI00000012B9	0	getma.org/pdb.php?prot=NXF1_HUMAN&from=201&to=291&var=I260T	ENST00000294172		ENSG00000162231	8071		19	3.205		HGNC	p.I303T		NXF1		SNV							ENST00000530875	protein_coding	getma.org/?cm=var&var=hg19,11,62568820,A,G&fts=all		hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF27,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		I/T		G	medium	915/2346		getma.org/?cm=msa&ty=f&p=NXF1_HUMAN&rb=201&re=291&var=I260T	deleterious(0.02)	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN				NXF1,missense_variant,p.Ile260Thr,ENST00000531709,NM_001081491.1;NXF1,missense_variant,p.Ile260Thr,ENST00000532297,;NXF1,missense_variant,p.Ile260Thr,ENST00000294172,NM_006362.4;NXF1,missense_variant,p.Ile303Thr,ENST00000530875,;NXF1,missense_variant,p.Ile260Thr,ENST00000439713,;NXF1,missense_variant,p.Ile123Thr,ENST00000531131,;NXF1,downstream_gene_variant,,ENST00000533671,;NXF1,downstream_gene_variant,,ENST00000531474,;NXF1,non_coding_transcript_exon_variant,,ENST00000531579,;NXF1,intron_variant,,ENST00000526163,;NXF1,upstream_gene_variant,,ENST00000533048,;NXF1,upstream_gene_variant,,ENST00000533440,;NXF1,downstream_gene_variant,,ENST00000525576,;NXF1,downstream_gene_variant,,ENST00000527064,;NXF1,upstream_gene_variant,,ENST00000531872,;							MODERATE	779/1860	I260T	NXF1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000294172		CCDS8037.1			1	
GRM2	0	LGGM	GRCh37	3	51749511	51749511	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	16	14	.	.	ENST00000395052.3:c.1722C>T	p.Ile574=	p.I574=	ENST00000395052	NM_000839.3	574	atC/atT	0	1	1	UPI000013E346	0		ENST00000395052		ENSG00000164082	4594		30			HGNC	p.I574I	rs750991019	GRM2	0.000122	SNV							ENST00000395052	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50259,hmmpanther:PTHR24060		I		T		1956/3151	1.53E-05			C9JD41_HUMAN			YES	GRM2,synonymous_variant,p.=,ENST00000395052,NM_000839.3;GRM2,intron_variant,,ENST00000442933,;GRM2,non_coding_transcript_exon_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000496661,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,3_prime_UTR_variant,,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;							LOW	1722/2619		GRM2_HUMAN	0.000151		Transcript			.	ENSP00000378492	3.29E-05	CCDS2834.1			1	
SVEP1	0	LGGM	GRCh37	9	113217926	113217926	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	103	15	.	.	ENST00000401783.2:c.3731G>A	p.Gly1244Glu	p.G1244E	ENST00000401783	NM_153366.3	1244	gGa/gAa	0	1		UPI0000458920	0	getma.org/pdb.php?prot=SVEP1_HUMAN&from=1235&to=1265&var=G1244E	ENST00000374469		ENSG00000165124	15985		118	3.87		HGNC	p.G1244E		SVEP1		SNV							ENST00000401783	protein_coding	getma.org/?cm=var&var=hg19,9,113217926,C,T&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57196		G/E		T	high	3926/12194		getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=1235&re=1265&var=G1244E	deleterious(0)					SVEP1,missense_variant,p.Gly1244Glu,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Gly1221Glu,ENST00000374469,;SVEP1,missense_variant,p.Gly1244Glu,ENST00000302728,;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,;							MODERATE	3662/10647	G1244E				Transcript		probably_damaging(0.998)	.	ENSP00000363593					1	
MUC12	0	LGGM	GRCh37	7	100642117	100642117	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	173	15	.	.	ENST00000536621.1:c.8273T>A	p.Phe2758Tyr	p.F2758Y	ENST00000536621	NM_001164462.1	2758	tTc/tAc	0	1		UPI0001722DB1	0	NA	ENST00000379442		ENSG00000205277	7510		188	0		HGNC	p.F2758Y		MUC12		SNV							ENST00000536621	protein_coding	getma.org/?cm=var&var=hg19,7,100642117,T,A&fts=all		hmmpanther:PTHR32093,hmmpanther:PTHR32093:SF9		F/Y		A	neutral	8702/16737		getma.org/?cm=msa&ty=f&p=MUC12_HUMAN&rb=1&re=5129&var=F2901Y						MUC12,missense_variant,p.Phe2901Tyr,ENST00000379442,;MUC12,missense_variant,p.Phe2758Tyr,ENST00000536621,NM_001164462.1;							MODERATE	8702/16437	F2901Y	MUC12_HUMAN			Transcript		benign(0.159)	.	ENSP00000368755					1	
MEIS2	0	LGGM	GRCh37	15	37388537	37388537	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	3	15	.	.	ENST00000561208.1:c.340T>C	p.Cys114Arg	p.C114R	ENST00000561208		114	Tgc/Cgc	0	1	1	UPI000012EEBC	0	NA	ENST00000561208		ENSG00000134138	7001		18	2.645		HGNC	p.C26R		MEIS2		SNV			1				ENST00000397620	protein_coding	getma.org/?cm=var&var=hg19,15,37388537,A,G&fts=all		hmmpanther:PTHR11850:SF47,hmmpanther:PTHR11850		C/R		G	medium	759/4818		getma.org/?cm=msa&ty=f&p=MEIS2_HUMAN&rb=1&re=200&var=C114R	deleterious(0)	H0YKN2_HUMAN,H0YKE5_HUMAN			YES	MEIS2,missense_variant,p.Cys114Arg,ENST00000338564,NM_001220482.1;MEIS2,missense_variant,p.Cys114Arg,ENST00000561208,;MEIS2,missense_variant,p.Cys114Arg,ENST00000444725,NM_170677.4,NM_170674.4;MEIS2,missense_variant,p.Cys114Arg,ENST00000382766,NM_170676.4,NM_170675.4;MEIS2,missense_variant,p.Cys101Arg,ENST00000340545,NM_002399.3;MEIS2,missense_variant,p.Cys114Arg,ENST00000424352,;MEIS2,missense_variant,p.Cys26Arg,ENST00000397624,;MEIS2,missense_variant,p.Cys101Arg,ENST00000557796,;MEIS2,missense_variant,p.Cys101Arg,ENST00000559085,NM_172315.2;MEIS2,missense_variant,p.Cys26Arg,ENST00000397620,NM_172316.2;MEIS2,missense_variant,p.Cys114Arg,ENST00000559561,;MEIS2,missense_variant,p.Cys26Arg,ENST00000558313,;MEIS2,5_prime_UTR_variant,,ENST00000560617,;MEIS2,5_prime_UTR_variant,,ENST00000560697,;MEIS2,intron_variant,,ENST00000219869,;MEIS2,upstream_gene_variant,,ENST00000607277,;MEIS2,upstream_gene_variant,,ENST00000606653,;RP11-128A17.1,upstream_gene_variant,,ENST00000559509,;MEIS2,missense_variant,p.Cys114Arg,ENST00000314177,;MEIS2,non_coding_transcript_exon_variant,,ENST00000561163,;MEIS2,intron_variant,,ENST00000560570,;MEIS2,upstream_gene_variant,,ENST00000561422,;MEIS2,upstream_gene_variant,,ENST00000559129,;							MODERATE	340/1434	C114R	MEIS2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000453793		CCDS10044.1			1	
CATSPERG	0	LGGM	GRCh37	19	38837200	38837200	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	9	15	.	.	ENST00000409235.3:c.780C>A	p.Tyr260Ter	p.Y260*	ENST00000409235	NM_021185.4	260	taC/taA	0	1	1	UPI000022A813	0	NA	ENST00000409235		ENSG00000099338	25243		24	0		HGNC	p.Y260X		CATSPERG		SNV							ENST00000409410	protein_coding	getma.org/?cm=var&var=hg19,19,38837200,C,A&fts=all		Pfam_domain:PF15064,hmmpanther:PTHR14327		Y/*		A	NA	895/3746		NA		Q32MQ2_HUMAN			YES	CATSPERG,stop_gained,p.Tyr260Ter,ENST00000409235,NM_021185.4;CATSPERG,stop_gained,p.Tyr260Ter,ENST00000410018,;CATSPERG,stop_gained,p.Tyr245Ter,ENST00000215069,;CATSPERG,stop_gained,p.Tyr260Ter,ENST00000409410,;snoU13,downstream_gene_variant,,ENST00000459333,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000467739,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000466060,;CATSPERG,stop_gained,p.Tyr237Ter,ENST00000312265,;CATSPERG,stop_gained,p.Tyr123Ter,ENST00000412458,;CATSPERG,3_prime_UTR_variant,,ENST00000471517,;CATSPERG,3_prime_UTR_variant,,ENST00000475343,;CATSPERG,non_coding_transcript_exon_variant,,ENST00000488473,;CATSPERG,downstream_gene_variant,,ENST00000475646,;							HIGH	780/3480	Y260*	CTSRG_HUMAN			Transcript			.	ENSP00000386962		CCDS12514.2			1	
ZNF711	0	LGGM	GRCh37	X	84525669	84525669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	0	15	.	.	ENST00000373165.3:c.1121G>A	p.Gly374Asp	p.G374D	ENST00000373165	NM_021998.4	374	gGt/gAt	0	1		UPI0000212114	0	NA	ENST00000276123		ENSG00000147180	13128		15	1.04		HGNC	p.G374D		ZNF711		SNV			1				ENST00000373165	protein_coding	getma.org/?cm=var&var=hg19,X,84525669,G,A&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1		G/D		A	low	1629/2887		getma.org/?cm=msa&ty=f&p=ZN711_HUMAN&rb=339&re=412&var=G374D	deleterious(0)	B4DS73_HUMAN				ZNF711,missense_variant,p.Gly420Asp,ENST00000360700,;ZNF711,missense_variant,p.Gly382Asp,ENST00000395402,;ZNF711,missense_variant,p.Gly374Asp,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.Gly374Asp,ENST00000276123,;ZNF711,missense_variant,p.Gly216Asp,ENST00000542798,;							MODERATE	1121/2286	G374D	ZN711_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000276123		CCDS35344.1			1	
PSG8	0	LGGM	GRCh37	19	43268360	43268360	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	89	16	.	.	ENST00000306511.4:c.138T>C	p.Ser46=	p.S46=	ENST00000306511	NM_182707.2	46	tcT/tcC	0	1	1	UPI0000071471	0		ENST00000306511		ENSG00000124467	9525		105			HGNC	p.S46S	rs778209745	PSG8		SNV				9.61E-05			ENST00000407488	protein_coding			hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		G		236/1441	4.50E-05						YES	PSG8,synonymous_variant,p.=,ENST00000404209,NM_001130167.1;PSG8,synonymous_variant,p.=,ENST00000401467,;PSG8,synonymous_variant,p.=,ENST00000306511,NM_182707.2;PSG8,intron_variant,,ENST00000406636,NM_001130168.1;PSG8,intron_variant,,ENST00000469260,;PSG8,non_coding_transcript_exon_variant,,ENST00000593692,;PSG8,intron_variant,,ENST00000478387,;							LOW	138/1281		PSG8_HUMAN			Transcript			.	ENSP00000305005	3.29E-05	CCDS33037.1			1	
NTRK2	0	LGGM	GRCh37	9	87342748	87342748	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	23	17	.	.	ENST00000277120.3:c.1033T>A	p.Cys345Ser	p.C345S	ENST00000277120		345	Tgc/Agc	0	1		UPI0000000C0E	0	getma.org/pdb.php?prot=NTRK2_HUMAN&from=298&to=377&var=C345S	ENST00000323115		ENSG00000148053	8032		40	1.685		HGNC	p.C345S		NTRK2		SNV			1				ENST00000359847	protein_coding	getma.org/?cm=var&var=hg19,9,87342748,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,Prints_domain:PR01939,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF136,Superfamily_domains:SSF48726		C/S		A	low	1386/3708		getma.org/?cm=msa&ty=f&p=NTRK2_HUMAN&rb=298&re=377&var=C345S	deleterious(0)	S5MD53_HUMAN,Q8WXJ4_HUMAN,Q548C2_HUMAN				NTRK2,missense_variant,p.Cys345Ser,ENST00000304053,NM_001018065.2;NTRK2,missense_variant,p.Cys345Ser,ENST00000376208,NM_001018066.2;NTRK2,missense_variant,p.Cys345Ser,ENST00000395882,NM_001007097.1;NTRK2,missense_variant,p.Cys345Ser,ENST00000359847,;NTRK2,missense_variant,p.Cys345Ser,ENST00000376214,NM_006180.3;NTRK2,missense_variant,p.Cys345Ser,ENST00000376213,NM_001018064.1;NTRK2,missense_variant,p.Cys345Ser,ENST00000277120,;NTRK2,missense_variant,p.Cys345Ser,ENST00000323115,;NTRK2,missense_variant,p.Cys189Ser,ENST00000395866,;							MODERATE	1033/2469	C345S	NTRK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000314586		CCDS35050.1			1	
PSG8	0	LGGM	GRCh37	19	43268359	43268359	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	90	18	.	.	ENST00000306511.4:c.139G>A	p.Glu47Lys	p.E47K	ENST00000306511	NM_182707.2	47	Gag/Aag	0	1	1	UPI0000071471	0	getma.org/pdb.php?prot=PSG8_HUMAN&from=30&to=140&var=E47K	ENST00000306511		ENSG00000124467	9525		108	2.76		HGNC	p.E47K		PSG8		SNV							ENST00000407488	protein_coding	getma.org/?cm=var&var=hg19,19,43268359,C,T&fts=all		hmmpanther:PTHR19955:SF116,hmmpanther:PTHR19955,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/K		T	medium	237/1441		getma.org/?cm=msa&ty=f&p=PSG8_HUMAN&rb=30&re=140&var=E47K	tolerated(0.05)				YES	PSG8,missense_variant,p.Glu47Lys,ENST00000404209,NM_001130167.1;PSG8,missense_variant,p.Glu47Lys,ENST00000401467,;PSG8,missense_variant,p.Glu47Lys,ENST00000306511,NM_182707.2;PSG8,intron_variant,,ENST00000406636,NM_001130168.1;PSG8,intron_variant,,ENST00000469260,;PSG8,non_coding_transcript_exon_variant,,ENST00000593692,;PSG8,intron_variant,,ENST00000478387,;							MODERATE	139/1281	E47K	PSG8_HUMAN			Transcript		benign(0.063)	.	ENSP00000305005		CCDS33037.1			1	
BDKRB1	0	LGGM	GRCh37	14	96730698	96730698	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	20	18	.	.	ENST00000216629.6:c.679G>T	p.Ala227Ser	p.A227S	ENST00000216629	NM_000710.3	227	Gcc/Tcc	0	1	1	UPI0000000348	0	getma.org/pdb.php?prot=BKRB1_HUMAN&from=54&to=312&var=A227S	ENST00000216629		ENSG00000100739	1029		38	1.455		HGNC	p.A227S		BDKRB1		SNV							ENST00000216629	protein_coding	getma.org/?cm=var&var=hg19,14,96730698,G,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00993,Prints_domain:PR00425,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF4,PROSITE_profiles:PS50262		A/S		T	low	1285/1687		getma.org/?cm=msa&ty=f&p=BKRB1_HUMAN&rb=54&re=312&var=A227S	tolerated(0.39)				YES	BDKRB1,missense_variant,p.Ala227Ser,ENST00000216629,NM_000710.3;BDKRB1,missense_variant,p.Ala227Ser,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,;							MODERATE	679/1062	A227S	BKRB1_HUMAN			Transcript		possibly_damaging(0.755)	.	ENSP00000216629		CCDS9943.1			1	
ENDOD1	0	LGGM	GRCh37	11	94862336	94862336	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	2	18	.	.	ENST00000278505.4:c.1096A>T	p.Lys366Ter	p.K366*	ENST00000278505	NM_015036.2	366	Aag/Tag	0	1	1	UPI0000071599	0	NA	ENST00000278505		ENSG00000149218	29129		20	0		HGNC	p.K366X		ENDOD1		SNV							ENST00000278505	protein_coding	getma.org/?cm=var&var=hg19,11,94862336,A,T&fts=all		hmmpanther:PTHR21472,hmmpanther:PTHR21472:SF8		K/*		T	NA	1214/4687		NA					YES	ENDOD1,stop_gained,p.Lys366Ter,ENST00000278505,NM_015036.2;							HIGH	1096/1503	K366*	ENDD1_HUMAN			Transcript			.	ENSP00000278505		CCDS41699.1			1	
SNX17	0	LGGM	GRCh37	2	27598472	27598472	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	26	19	.	.	ENST00000233575.2:c.874G>T	p.Ala292Ser	p.A292S	ENST00000233575	NM_001267059.1	292	Gcg/Tcg	0	1	1	UPI0000135B4E	0	NA	ENST00000233575		ENSG00000115234	14979		45	2.125		HGNC	p.A78S		SNX17		SNV							ENST00000543024	protein_coding	getma.org/?cm=var&var=hg19,2,27598472,G,T&fts=all		hmmpanther:PTHR12431,hmmpanther:PTHR12431:SF16		A/S		T	medium	1096/2044		getma.org/?cm=msa&ty=f&p=SNX17_HUMAN&rb=106&re=305&var=A292S	tolerated(0.09)	B4DTB8_HUMAN,B4DLL7_HUMAN,B4DDM3_HUMAN			YES	SNX17,missense_variant,p.Ala292Ser,ENST00000233575,NM_001267059.1,NM_001267061.1,NM_014748.3;SNX17,missense_variant,p.Ala78Ser,ENST00000542478,;SNX17,missense_variant,p.Ala78Ser,ENST00000543024,;SNX17,missense_variant,p.Ala267Ser,ENST00000537606,NM_001267060.1;ZNF513,downstream_gene_variant,,ENST00000323703,NM_144631.5;ZNF513,downstream_gene_variant,,ENST00000407879,NM_001201459.1;ZNF513,downstream_gene_variant,,ENST00000436006,;ZNF513,downstream_gene_variant,,ENST00000491924,;SNX17,3_prime_UTR_variant,,ENST00000427123,;SNX17,3_prime_UTR_variant,,ENST00000440760,;SNX17,3_prime_UTR_variant,,ENST00000453453,;SNX17,downstream_gene_variant,,ENST00000494893,;SNX17,downstream_gene_variant,,ENST00000489402,;SNX17,downstream_gene_variant,,ENST00000493711,;SNX17,downstream_gene_variant,,ENST00000484886,;SNX17,downstream_gene_variant,,ENST00000464279,;							MODERATE	874/1413	A292S	SNX17_HUMAN			Transcript		benign(0.363)	.	ENSP00000233575		CCDS1750.1			1	
NYAP2	0	LGGM	GRCh37	2	226447646	226447646	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	14	19	.	.	ENST00000272907.6:c.1513C>T	p.Arg505Trp	p.R505W	ENST00000272907	NM_020864.1	505	Cgg/Tgg	0	1	1	UPI00001C1DB6	0	NA	ENST00000272907		ENSG00000144460	29291		33	1.79		HGNC	p.R505W		NYAP2		SNV							ENST00000272907	protein_coding	getma.org/?cm=var&var=hg19,2,226447646,C,T&fts=all		hmmpanther:PTHR22633		R/W		T	low	1926/4828		getma.org/?cm=msa&ty=f&p=NYAP2_HUMAN&rb=401&re=600&var=R505W	deleterious(0)				YES	NYAP2,missense_variant,p.Arg505Trp,ENST00000272907,NM_020864.1;NYAP2,intron_variant,,ENST00000409269,;							MODERATE	1513/1962	R505W	NYAP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000272907		CCDS46529.1			1	
FCGBP	0	LGGM	GRCh37	19	40354382	40354382	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	28	20	.	.	ENST00000221347.6:c.16087G>A	p.Asp5363Asn	p.D5363N	ENST00000221347	NM_003890.2	5363	Gac/Aac	0	1	1	UPI00001B0455	0	NA	ENST00000221347		ENSG00000090920	13572		48	0.41		HGNC	p.D5363N		FCGBP		SNV							ENST00000221347	protein_coding	getma.org/?cm=var&var=hg19,19,40354382,C,T&fts=all		PROSITE_profiles:PS51233,Pfam_domain:PF00094,SMART_domains:SM00216		D/N		T	neutral	16095/16390		getma.org/?cm=msa&ty=f&p=FCGBP_HUMAN&rb=5235&re=5389&var=D5363N					YES	FCGBP,missense_variant,p.Asp5363Asn,ENST00000221347,NM_003890.2;							MODERATE	16087/16218	D5363N	FCGBP_HUMAN			Transcript		possibly_damaging(0.9)	.	ENSP00000221347		CCDS12546.1			1	
MAP2K1	0	LGGM	GRCh37	15	66782848	66782848	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	79	21	.	.	ENST00000307102.5:c.1077T>G	p.Ala359=	p.A359=	ENST00000307102	NM_002755.3	359	gcT/gcG	0	1	1	UPI000013EBC9	0		ENST00000307102		ENSG00000169032	6840		100			HGNC	p.A183A		MAP2K1		SNV			1				ENST00000566326	protein_coding			PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF15,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		A		G		1608/3410				A4QPA9_HUMAN			YES	MAP2K1,synonymous_variant,p.=,ENST00000307102,NM_002755.3;MAP2K1,synonymous_variant,p.=,ENST00000566326,;SNAPC5,3_prime_UTR_variant,,ENST00000563480,;SNAPC5,3_prime_UTR_variant,,ENST00000395589,NM_006049.2;SNAPC5,downstream_gene_variant,,ENST00000316634,;SNAPC5,downstream_gene_variant,,ENST00000307979,;SNAPC5,downstream_gene_variant,,ENST00000566658,;CTD-3185P2.1,non_coding_transcript_exon_variant,,ENST00000565387,;CTD-3185P2.2,upstream_gene_variant,,ENST00000602360,;SNAPC5,downstream_gene_variant,,ENST00000568875,;SNAPC5,downstream_gene_variant,,ENST00000565465,;SNAPC5,downstream_gene_variant,,ENST00000562411,;							LOW	1077/1182		MP2K1_HUMAN			Transcript			.	ENSP00000302486		CCDS10216.1			1	
TAAR8	0	LGGM	GRCh37	6	132874409	132874409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	43	21	.	.	ENST00000275200.1:c.578T>C	p.Val193Ala	p.V193A	ENST00000275200	NM_053278.1	193	gTa/gCa	0	1	1	UPI000000D87F	0	getma.org/pdb.php?prot=TAAR8_HUMAN&from=48&to=310&var=V193A	ENST00000275200		ENSG00000146385	14964		64	2.475		HGNC	p.V193A		TAAR8		SNV							ENST00000275200	protein_coding	getma.org/?cm=var&var=hg19,6,132874409,T,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF253,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		V/A		C	medium	578/1029		getma.org/?cm=msa&ty=f&p=TAAR8_HUMAN&rb=48&re=310&var=V193A	deleterious(0.02)				YES	TAAR8,missense_variant,p.Val193Ala,ENST00000275200,NM_053278.1;							MODERATE	578/1029	V193A	TAAR8_HUMAN			Transcript		benign(0.078)	.	ENSP00000275200		CCDS5154.1			1	
SMARCAD1	0	LGGM	GRCh37	4	95158111	95158111	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	5	21	.	.	ENST00000359052.4:c.546A>G	p.Glu182=	p.E182=	ENST00000359052	NM_001128430.1	182	gaA/gaG	0	1		UPI000013E22F	0		ENST00000354268		ENSG00000163104	18398		26			HGNC	p.E182E		SMARCAD1		SNV			1				ENST00000510105	protein_coding			PROSITE_profiles:PS51140,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF271		E		G		619/4912								SMARCAD1,synonymous_variant,p.=,ENST00000359052,NM_001128430.1;SMARCAD1,synonymous_variant,p.=,ENST00000354268,;SMARCAD1,synonymous_variant,p.=,ENST00000457823,NM_001128429.2,NM_020159.4;SMARCAD1,synonymous_variant,p.=,ENST00000510105,;SMARCAD1,3_prime_UTR_variant,,ENST00000394961,;							LOW	546/3081		SMRCD_HUMAN			Transcript			.	ENSP00000346217		CCDS3639.1			1	
MAP7	0	LGGM	GRCh37	6	136667074	136667076	+	inframe_deletion	In_Frame_Del	DEL	TTC	TTC	-	novel	by Submitter	H111183	H111183N.bam	TTC	TTC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	22	21	.	.	ENST00000454590.1:c.2223_2225del	p.Leu741_Asn742delinsPhe	p.L741_N742delinsF	ENST00000454590	NM_001198614.1	741	ttGAAt/ttt	0	1		UPI0000072AD5	0		ENST00000354570		ENSG00000135525	6869		43			HGNC	p.741_742del		MAP7		deletion							ENST00000454590	protein_coding			hmmpanther:PTHR15073,hmmpanther:PTHR15073:SF4		LN/F		-		2568-2570/4152								MAP7,inframe_deletion,p.Leu719_Asn720delinsPhe,ENST00000354570,NM_001198616.1,NM_003980.4,NM_001198617.1,NM_001198619.1;MAP7,inframe_deletion,p.Leu741_Asn742delinsPhe,ENST00000454590,NM_001198614.1,NM_001198609.1,NM_001198608.1;MAP7,inframe_deletion,p.Leu573_Asn574delinsPhe,ENST00000432797,NM_001198618.1;MAP7,inframe_deletion,p.Leu704_Asn705delinsPhe,ENST00000544465,NM_001198615.1;MAP7,inframe_deletion,p.Leu704_Asn705delinsPhe,ENST00000438100,NM_001198611.1;							MODERATE	2157-2159/2250		MAP7_HUMAN			Transcript			.	ENSP00000346581		CCDS5178.1			1	
ITGA2	0	LGGM	GRCh37	5	52358644	52358644	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	36	22	.	.	ENST00000296585.5:c.1487G>T	p.Cys496Phe	p.C496F	ENST00000296585	NM_002203.3	496	tGt/tTt	0	1	1	UPI0000169C36	0	getma.org/pdb.php?prot=ITA2_HUMAN&from=364&to=553&var=C496F	ENST00000296585		ENSG00000164171	6137		58	3.04		HGNC	p.C496F		ITGA2		SNV			1				ENST00000509814	protein_coding	getma.org/?cm=var&var=hg19,5,52358644,G,T&fts=all		Prints_domain:PR01185,Superfamily_domains:SSF69318,SMART_domains:SM00191,Gene3D:3nigC00,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF23,PROSITE_profiles:PS51470		C/F		T	medium	1630/7869		getma.org/?cm=msa&ty=f&p=ITA2_HUMAN&rb=364&re=553&var=C496F	deleterious(0)	Q71V33_HUMAN,G3LGR5_HUMAN,F1C629_HUMAN,F1C627_HUMAN,E7ESP4_HUMAN			YES	ITGA2,missense_variant,p.Cys496Phe,ENST00000296585,NM_002203.3;ITGA2,missense_variant,p.Cys496Phe,ENST00000509960,;ITGA2,missense_variant,p.Cys496Phe,ENST00000510722,;ITGA2,missense_variant,p.Cys496Phe,ENST00000509814,;ITGA2,3_prime_UTR_variant,,ENST00000503810,;ITGA2,3_prime_UTR_variant,,ENST00000513685,;							MODERATE	1487/3546	C496F	ITA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296585		CCDS3957.1			1	
EVC	0	LGGM	GRCh37	4	5733292	5733292	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	32	22	.	.	ENST00000382674.2:c.525A>C	p.Ser175=	p.S175=	ENST00000382674		175	tcA/tcC	0	1		UPI000012A2A5	0		ENST00000264956		ENSG00000072840	3497		54			HGNC	p.S175S		EVC		SNV			1				ENST00000382674	protein_coding			hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF12,Low_complexity_(Seg):seg		S		C		709/6431				Q4W5F2_HUMAN,Q4W5A3_HUMAN				EVC,synonymous_variant,p.=,ENST00000382674,;EVC,synonymous_variant,p.=,ENST00000264956,NM_153717.2;EVC,synonymous_variant,p.=,ENST00000509451,;							LOW	525/2979		EVC_HUMAN			Transcript			.	ENSP00000264956		CCDS3383.1			1	
ABCA13	0	LGGM	GRCh37	7	48431681	48431681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	45	23	.	.	ENST00000435803.1:c.11818G>T	p.Ala3940Ser	p.A3940S	ENST00000435803	NM_152701.3	3940	Gct/Tct	0	1	1	UPI00001A95EA	0	getma.org/pdb.php?prot=ABCAD_HUMAN&from=3882&to=4004&var=A3940S	ENST00000435803		ENSG00000179869	14638		68	1.605		HGNC	p.A3940S		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48431681,G,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893		A/S		T	low	11842/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3882&re=4004&var=A3940S					YES	ABCA13,missense_variant,p.Ala3940Ser,ENST00000435803,NM_152701.3;ABCA13,missense_variant,p.Ala206Ser,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;							MODERATE	11818/15177	A3940S	ABCAD_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000411096		CCDS47584.1			1	
MEF2C	0	LGGM	GRCh37	5	88025096	88025096	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	24	23	.	.	ENST00000340208.5:c.933T>C	p.Pro311=	p.P311=	ENST00000340208	NM_001193347.1	311	ccT/ccC	0	1		UPI0000040635	0		ENST00000437473		ENSG00000081189	6996		47			HGNC	p.P301P		MEF2C		SNV			1				ENST00000437473	protein_coding			hmmpanther:PTHR11945:SF25,hmmpanther:PTHR11945		P		G		1321/4095				H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG21_HUMAN,D6RG14_HUMAN,D6RCM6_HUMAN				MEF2C,synonymous_variant,p.=,ENST00000504921,;MEF2C,synonymous_variant,p.=,ENST00000340208,NM_001193347.1;MEF2C,synonymous_variant,p.=,ENST00000424173,NM_001131005.2;MEF2C,synonymous_variant,p.=,ENST00000437473,NM_001193350.1,NM_002397.4;MEF2C,synonymous_variant,p.=,ENST00000514028,;MEF2C,synonymous_variant,p.=,ENST00000510942,;MEF2C,synonymous_variant,p.=,ENST00000506554,;MEF2C,synonymous_variant,p.=,ENST00000514015,;MEF2C,synonymous_variant,p.=,ENST00000508569,;MEF2C,synonymous_variant,p.=,ENST00000539796,NM_001193348.1;MEF2C,downstream_gene_variant,,ENST00000513252,;MEF2C,downstream_gene_variant,,ENST00000506716,;MEF2C,downstream_gene_variant,,ENST00000503554,;MEF2C,non_coding_transcript_exon_variant,,ENST00000510980,;MEF2C,downstream_gene_variant,,ENST00000515715,;							LOW	903/1422		MEF2C_HUMAN			Transcript			.	ENSP00000396219		CCDS47245.1			1	
SERPINB8	0	LGGM	GRCh37	18	61650898	61650898	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	34	24	.	.	ENST00000397985.2:c.510G>A	p.Lys170=	p.K170=	ENST00000397985		170	aaG/aaA	0	1		UPI000013C5F2	0		ENST00000353706		ENSG00000166401	8952		58			HGNC	p.K170K	rs766096367	SERPINB8		SNV							ENST00000397988	protein_coding			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF135,Pfam_domain:PF00079,Gene3D:2.30.39.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		K		A		679/3387	5.99E-05			C9JVA8_HUMAN,C9JTJ8_HUMAN,B4DTW2_HUMAN				SERPINB8,synonymous_variant,p.=,ENST00000397985,;SERPINB8,synonymous_variant,p.=,ENST00000353706,NM_002640.3,NM_001276490.1,NM_198833.1;SERPINB8,synonymous_variant,p.=,ENST00000397988,NM_001031848.1;SERPINB8,synonymous_variant,p.=,ENST00000295211,;SERPINB8,5_prime_UTR_variant,,ENST00000542677,;SERPINB8,downstream_gene_variant,,ENST00000448851,;SERPINB8,downstream_gene_variant,,ENST00000441827,;HMSD,downstream_gene_variant,,ENST00000481726,;SERPINB8,upstream_gene_variant,,ENST00000493661,;							LOW	510/1125		SPB8_HUMAN			Transcript			.	ENSP00000331368	3.29E-05	CCDS11991.1			1	
UBR4	0	LGGM	GRCh37	1	19520020	19520020	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	4	25	.	.	ENST00000375254.3:c.1050C>T	p.Leu350=	p.L350=	ENST00000375254	NM_020765.2	350	ctC/ctT	0	1	1	UPI000021276F	0		ENST00000375254		ENSG00000127481	30313		29			HGNC	p.L350L	rs765564583	UBR4		SNV							ENST00000375267	protein_coding			hmmpanther:PTHR21725		L		A		1078/15906				Q96HY5_HUMAN			YES	UBR4,synonymous_variant,p.=,ENST00000375267,;UBR4,synonymous_variant,p.=,ENST00000375254,NM_020765.2;UBR4,synonymous_variant,p.=,ENST00000375217,;UBR4,synonymous_variant,p.=,ENST00000375226,;	0.000231						LOW	1050/15552		UBR4_HUMAN			Transcript			.	ENSP00000364403	1.65E-05	CCDS189.1			1	
FRAS1	0	LGGM	GRCh37	4	79461920	79461920	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	56	35	.	.	ENST00000264895.6:c.11681C>T	p.Ala3894Val	p.A3894V	ENST00000264895	NM_025074.6	3894	gCg/gTg	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185	8.74E-05	91	-0.41		HGNC	p.A3894V	rs772941624	FRAS1	0.000306	SNV			1	0.000103			ENST00000264895	protein_coding	getma.org/?cm=var&var=hg19,4,79461920,C,T&fts=all				A/V		T	neutral	12121/12479	1.51E-05	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=3155&re=4005&var=A3889V		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Ala3894Val,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Ala2123Val,ENST00000512123,;	0.00047						MODERATE	11681/12039	A3889V	FRAS1_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000264895	9.92E-05	CCDS54771.1			1	
AOC2	0	LGGM	GRCh37	17	41001698	41001698	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	31	26	.	.	ENST00000253799.3:c.1955C>G	p.Pro652Arg	p.P652R	ENST00000253799	NM_009590.2	652	cCc/cGc	0	1	1	UPI000013CDF4	0	getma.org/pdb.php?prot=AOC2_HUMAN&from=307&to=720&var=P652R	ENST00000253799		ENSG00000131480	549		57	3.155		HGNC	p.P652R		AOC2		SNV							ENST00000253799	protein_coding	getma.org/?cm=var&var=hg19,17,41001698,C,G&fts=all		Superfamily_domains:SSF49998,Gene3D:2.70.98.20,Pfam_domain:PF01179,hmmpanther:PTHR10638,hmmpanther:PTHR10638:SF4		P/R		G	medium	1982/2657		getma.org/?cm=msa&ty=f&p=AOC2_HUMAN&rb=307&re=720&var=P652R	deleterious(0)				YES	AOC2,missense_variant,p.Pro652Arg,ENST00000253799,NM_009590.2;AOC2,missense_variant,p.Pro625Arg,ENST00000452774,NM_001158.3;AOC3,upstream_gene_variant,,ENST00000308423,NM_003734.3;AOC3,upstream_gene_variant,,ENST00000591562,NM_001277732.1;AOC3,upstream_gene_variant,,ENST00000592999,;AOC3,upstream_gene_variant,,ENST00000588033,;AOC3,upstream_gene_variant,,ENST00000587330,;							MODERATE	1955/2271	P652R	AOC2_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000253799		CCDS11443.1			1	
ZC3H13	0	LGGM	GRCh37	13	46559587	46559587	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	41	27	.	.	ENST00000282007.3:c.1565A>G	p.Tyr522Cys	p.Y522C	ENST00000282007	NM_015070.3	522	tAt/tGt	0	1		UPI000046F8EB	0	NA	ENST00000242848		ENSG00000123200	20368		68	0.975		HGNC	p.Y522C		ZC3H13		SNV							ENST00000242848	protein_coding	getma.org/?cm=var&var=hg19,13,46559587,T,C&fts=all				Y/C		C	low	1914/8018		getma.org/?cm=msa&ty=f&p=Q32Q34_HUMAN&rb=2&re=374&var=Y239C		F8W781_HUMAN				ZC3H13,missense_variant,p.Tyr522Cys,ENST00000242848,;ZC3H13,missense_variant,p.Tyr522Cys,ENST00000282007,NM_015070.3;							MODERATE	1565/5007	Y239C	ZC3HD_HUMAN			Transcript		possibly_damaging(0.716)	.	ENSP00000242848					1	
DMD	0	LGGM	GRCh37	X	32834605	32834605	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	1	28	.	.	ENST00000357033.4:c.510T>C	p.Asn170=	p.N170=	ENST00000357033	NM_004007.2	170	aaT/aaC	0	1	1	UPI000049E111	0		ENST00000357033		ENSG00000198947	2928		29			HGNC	p.N162N		DMD		SNV			1				ENST00000288447	protein_coding			PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,Pfam_domain:PF00307,Gene3D:1.10.418.10,SMART_domains:SM00033,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF47576		N		G		717/13956				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			YES	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,synonymous_variant,p.=,ENST00000288447,;DMD,intron_variant,,ENST00000447523,;DMD,intron_variant,,ENST00000420596,;DMD,intron_variant,,ENST00000448370,;DMD,non_coding_transcript_exon_variant,,ENST00000480751,;DMD,intron_variant,,ENST00000488902,;							LOW	510/11058					Transcript			.	ENSP00000354923		CCDS14233.1			1	
USH1C	0	LGGM	GRCh37	11	17542942	17542942	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	7	28	.	.	ENST00000005226.7:c.1036G>T	p.Ala346Ser	p.A346S	ENST00000005226	NM_153676.3	346	Gcc/Tcc	0	1		UPI000016944D	0	NA	ENST00000318024		ENSG00000006611	12597		35	-0.425		HGNC	p.A346S		USH1C		SNV			1				ENST00000005226	protein_coding	getma.org/?cm=var&var=hg19,11,17542942,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23116:SF32,hmmpanther:PTHR23116		A/S		A	neutral	1145/2237		getma.org/?cm=msa&ty=f&p=USH1C_HUMAN&rb=321&re=429&var=A346S	tolerated(1)					USH1C,missense_variant,p.Ala346Ser,ENST00000005226,NM_153676.3;USH1C,missense_variant,p.Ala315Ser,ENST00000527720,;USH1C,missense_variant,p.Ala346Ser,ENST00000318024,NM_005709.3;USH1C,missense_variant,p.Ala327Ser,ENST00000527020,;USH1C,downstream_gene_variant,,ENST00000526181,;USH1C,upstream_gene_variant,,ENST00000529563,;USH1C,upstream_gene_variant,,ENST00000530700,;USH1C,missense_variant,p.Ala346Ser,ENST00000526313,;							MODERATE	1036/1659	A346S	USH1C_HUMAN			Transcript		benign(0.004)	.	ENSP00000317018		CCDS31438.1			1	
ZMYND11	0	LGGM	GRCh37	10	294356	294356	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	36	30	.	.	ENST00000397962.3:c.1308G>T	p.Val436=	p.V436=	ENST00000397962		436	gtG/gtT	0	1		UPI0000458A5F	0		ENST00000381591		ENSG00000015171	16966		66			HGNC	p.V316V		ZMYND11		SNV							ENST00000545619	protein_coding			hmmpanther:PTHR24102		V		T		1561/4229								ZMYND11,synonymous_variant,p.=,ENST00000397962,;ZMYND11,synonymous_variant,p.=,ENST00000309776,NM_001202466.1,NM_006624.5;ZMYND11,synonymous_variant,p.=,ENST00000381591,;ZMYND11,synonymous_variant,p.=,ENST00000402736,;ZMYND11,synonymous_variant,p.=,ENST00000381607,NM_001202464.1;ZMYND11,synonymous_variant,p.=,ENST00000381584,;ZMYND11,synonymous_variant,p.=,ENST00000381604,;ZMYND11,synonymous_variant,p.=,ENST00000381602,NM_212479.3;ZMYND11,synonymous_variant,p.=,ENST00000509513,;ZMYND11,synonymous_variant,p.=,ENST00000558098,NM_001202467.1,NM_001202468.1;ZMYND11,synonymous_variant,p.=,ENST00000397959,NM_001202465.1;ZMYND11,synonymous_variant,p.=,ENST00000602682,;ZMYND11,synonymous_variant,p.=,ENST00000403354,;ZMYND11,synonymous_variant,p.=,ENST00000545619,;ZMYND11,synonymous_variant,p.=,ENST00000535374,;ZMYND11,non_coding_transcript_exon_variant,,ENST00000473115,;ZMYND11,downstream_gene_variant,,ENST00000488275,;							LOW	1308/1809		ZMY11_HUMAN			Transcript			.	ENSP00000371003		CCDS7052.2			1	
PRKCB	0	LGGM	GRCh37	16	24105571	24105571	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	4	31	.	.	ENST00000303531.7:c.774T>A	p.Ser258=	p.S258=	ENST00000303531	NM_002738.6	258	tcT/tcA	0	1		UPI000012DF67	0		ENST00000321728		ENSG00000166501	9395		35			HGNC	p.S258S		PRKCB		SNV							ENST00000321728	protein_coding			Gene3D:2.60.40.150,Pfam_domain:PF00168,PIRSF_domain:PIRSF000550,PROSITE_profiles:PS50004,hmmpanther:PTHR24357,hmmpanther:PTHR24357:SF63,SMART_domains:SM00239,Superfamily_domains:SSF49562		S		A		949/2689				I3L1Z0_HUMAN				PRKCB,synonymous_variant,p.=,ENST00000303531,NM_002738.6;PRKCB,synonymous_variant,p.=,ENST00000321728,NM_212535.2;PRKCB,synonymous_variant,p.=,ENST00000498739,;PRKCB,non_coding_transcript_exon_variant,,ENST00000482000,;PRKCB,downstream_gene_variant,,ENST00000486868,;							LOW	774/2016		KPCB_HUMAN			Transcript			.	ENSP00000318315		CCDS10618.1			1	
GOLGA8S	0	LGGM	GRCh37	15	23606390	23606390	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	56	31	.	.	ENST00000562295.1:c.897C>T	p.Pro299=	p.P299=	ENST00000562295		299	ccC/ccT	0	1	1	UPI00024672CC	0		ENST00000562295		ENSG00000261739	44409		87			HGNC	p.P299P		GOLGA8S		SNV							ENST00000562295	protein_coding			Pfam_domain:PF15070,hmmpanther:PTHR10881,Low_complexity_(Seg):seg		P		T		897/1878				H3BPF8_HUMAN			YES	GOLGA8S,synonymous_variant,p.=,ENST00000562295,;AC100756.1,upstream_gene_variant,,ENST00000459602,;RN7SL536P,upstream_gene_variant,,ENST00000491146,;GOLGA8S,non_coding_transcript_exon_variant,,ENST00000604046,;							LOW	897/1878					Transcript			.	ENSP00000455298					1	
PLA2G4A	0	LGGM	GRCh37	1	186957584	186957584	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	52	33	.	.	ENST00000367466.3:c.2194A>G	p.Asn732Asp	p.N732D	ENST00000367466	NM_024420.2	732	Aat/Gat	0	1	1	UPI0000203D76	0	NA	ENST00000367466		ENSG00000116711	9035		85	-1.245		HGNC	p.N732D		PLA2G4A		SNV							ENST00000367466	protein_coding	getma.org/?cm=var&var=hg19,1,186957584,A,G&fts=all		PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13		N/D		G	neutral	2346/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=140&re=740&var=N732D	tolerated(1)				YES	PLA2G4A,missense_variant,p.Asn732Asp,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Asn672Asp,ENST00000442353,;							MODERATE	2194/2250	N732D	PA24A_HUMAN			Transcript		benign(0.001)	.	ENSP00000356436		CCDS1372.1			1	
CNKSR2	0	LGGM	GRCh37	X	21534634	21534634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	2	34	.	.	ENST00000379510.3:c.842C>A	p.Ala281Glu	p.A281E	ENST00000379510	NM_014927.3	281	gCa/gAa	0	1	1	UPI0000070D72	0	getma.org/pdb.php?prot=CNKR2_HUMAN&from=216&to=294&var=A281E	ENST00000379510		ENSG00000149970	19701		36	0.05		HGNC	p.A281E		CNKSR2		SNV			1				ENST00000279451	protein_coding	getma.org/?cm=var&var=hg19,X,21534634,C,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF21,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		A/E		A	neutral	878/5315		getma.org/?cm=msa&ty=f&p=CNKR2_HUMAN&rb=216&re=294&var=A281E	tolerated(0.12)				YES	CNKSR2,missense_variant,p.Ala281Glu,ENST00000425654,NM_001168647.1;CNKSR2,missense_variant,p.Ala281Glu,ENST00000379510,NM_014927.3;CNKSR2,missense_variant,p.Ala281Glu,ENST00000279451,NM_001168648.1;CNKSR2,intron_variant,,ENST00000543067,NM_001168649.1;CNKSR2,intron_variant,,ENST00000479158,;							MODERATE	842/3105	A281E	CNKR2_HUMAN			Transcript		benign(0.102)	.	ENSP00000368824		CCDS14198.1			1	
INPP5J	0	LGGM	GRCh37	22	31522665	31522665	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	43	34	.	.	ENST00000404390.3:c.348T>C	p.Ser116=	p.S116=	ENST00000404390	NM_001002837.1	116	agT/agC	0	1		UPI000004CB11	0		ENST00000331075		ENSG00000185133	8956		77			HGNC	p.S117S		INPP5J		SNV							ENST00000405300	protein_coding			hmmpanther:PTHR11200:SF127,hmmpanther:PTHR11200,Pfam_domain:PF03372,Gene3D:3.60.10.10,SMART_domains:SM00128,Superfamily_domains:SSF56219		S		C		1501/3347				C9K0M5_HUMAN,C9J0H5_HUMAN,B5MBZ3_HUMAN,B4DF95_HUMAN				INPP5J,synonymous_variant,p.=,ENST00000331075,NM_001284285.1;INPP5J,synonymous_variant,p.=,ENST00000412277,NM_001284286.1;INPP5J,synonymous_variant,p.=,ENST00000405300,NM_001284289.1;INPP5J,synonymous_variant,p.=,ENST00000400294,NM_001284288.1;INPP5J,synonymous_variant,p.=,ENST00000404390,NM_001002837.1;INPP5J,synonymous_variant,p.=,ENST00000420017,;INPP5J,upstream_gene_variant,,ENST00000401755,;INPP5J,upstream_gene_variant,,ENST00000404453,;INPP5J,upstream_gene_variant,,ENST00000402238,;INPP5J,downstream_gene_variant,,ENST00000412985,;INPP5J,downstream_gene_variant,,ENST00000463528,;INPP5J,non_coding_transcript_exon_variant,,ENST00000461241,;							LOW	1452/3021		PI5PA_HUMAN			Transcript			.	ENSP00000333262		CCDS63453.1			1	
MC4R	0	LGGM	GRCh37	18	58039368	58039368	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	7	34	.	.	ENST00000299766.3:c.215A>G	p.Asn72Ser	p.N72S	ENST00000299766	NM_005912.2	72	aAc/aGc	0	1	1	UPI000013E5E3	0	getma.org/pdb.php?prot=MC4R_HUMAN&from=61&to=302&var=N72S	ENST00000299766		ENSG00000166603	6932		41	2.175		HGNC	p.N72S	rs775933215	MC4R	6.06E-05	SNV			1				ENST00000299766	protein_coding	getma.org/?cm=var&var=hg19,18,58039368,T,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00534		N/S		C	medium	634/1438	1.50E-05	getma.org/?cm=msa&ty=f&p=MC4R_HUMAN&rb=61&re=302&var=N72S	deleterious(0.01)	K4N7A9_HUMAN,A0N0W8_HUMAN			YES	MC4R,missense_variant,p.Asn72Ser,ENST00000299766,NM_005912.2;							MODERATE	215/999	N72S	MC4R_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000299766	1.65E-05	CCDS11976.1			1	
ZNF208	0	LGGM	GRCh37	19	22155518	22155518	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	36	34	.	.	ENST00000397126.4:c.2318T>C	p.Val773Ala	p.V773A	ENST00000397126	NM_007153.3	773	gTa/gCa	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		70			HGNC	p.V773A		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		V/A		G		2467/3992			deleterious(0.04)				YES	ZNF208,missense_variant,p.Val773Ala,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							MODERATE	2318/3843		ZN208_HUMAN			Transcript		benign(0)	.	ENSP00000380315		CCDS54240.1			1	
PKP4	0	LGGM	GRCh37	2	159514820	159514820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	26	35	.	.	ENST00000389759.3:c.2087G>T	p.Cys696Phe	p.C696F	ENST00000389759	NM_003628.3	696	tGc/tTc	0	1	1	UPI000044D379	0	getma.org/pdb.php?prot=PKP4_HUMAN&from=645&to=844&var=C696F	ENST00000389759		ENSG00000144283	9026		61	2.28		HGNC	p.C696F		PKP4		SNV							ENST00000389759	protein_coding	getma.org/?cm=var&var=hg19,2,159514820,G,T&fts=all		hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF8,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		C/F		T	medium	2199/4443		getma.org/?cm=msa&ty=f&p=PKP4_HUMAN&rb=645&re=844&var=C696F	deleterious(0)	Q53TM5_HUMAN			YES	PKP4,missense_variant,p.Cys696Phe,ENST00000389757,NM_001005476.1;PKP4,missense_variant,p.Cys696Phe,ENST00000389759,NM_003628.3;AC005042.4,downstream_gene_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,,ENST00000492496,;PKP4,upstream_gene_variant,,ENST00000480171,;PKP4,upstream_gene_variant,,ENST00000483881,;							MODERATE	2087/3579	C696F	PKP4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000374409		CCDS33305.1			1	
KCNA4	0	LGGM	GRCh37	11	30032323	30032323	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	25	36	.	.	ENST00000328224.6:c.1903G>A	p.Asp635Asn	p.D635N	ENST00000328224	NM_002233.3	635	Gac/Aac	0	1	1	UPI00001649FF	0	NA	ENST00000328224		ENSG00000182255	6222		61	-0.345		HGNC	p.D635N		KCNA4		SNV							ENST00000328224	protein_coding	getma.org/?cm=var&var=hg19,11,30032323,C,T&fts=all		hmmpanther:PTHR11537:SF45,hmmpanther:PTHR11537		D/N		T	neutral	3137/4172		getma.org/?cm=msa&ty=f&p=KCNA4_HUMAN&rb=560&re=653&var=D635N	tolerated_low_confidence(0.48)				YES	KCNA4,missense_variant,p.Asp635Asn,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;							MODERATE	1903/1962	D635N	KCNA4_HUMAN			Transcript		benign(0.038)	.	ENSP00000328511		CCDS41629.1			1	
FAM193A	0	LGGM	GRCh37	4	2698149	2698149	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	46	37	.	.	ENST00000324666.5:c.2463G>C	p.Arg821=	p.R821=	ENST00000324666	NM_001256666.1	821	cgG/cgC	0	1	1	UPI0000551BCA	0		ENST00000324666		ENSG00000125386	16822		83			HGNC	p.R821R		FAM193A		SNV							ENST00000324666	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15109:SF2,hmmpanther:PTHR15109		R		C		2814/4846				E7EUR8_HUMAN,D6R990_HUMAN			YES	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,3_prime_UTR_variant,,ENST00000512465,;FAM193A,3_prime_UTR_variant,,ENST00000513898,;FAM193A,non_coding_transcript_exon_variant,,ENST00000506120,;							LOW	2463/3798		F193A_HUMAN			Transcript			.	ENSP00000324587		CCDS58875.1			1	
TENM3	0	LGGM	GRCh37	4	183664473	183664473	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	4	38	.	.	ENST00000511685.1:c.3530C>T	p.Ala1177Val	p.A1177V	ENST00000511685		1177	gCg/gTg	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		42	2.555		HGNC	p.A1177V	COSM1218353	TENM3		SNV			1			1	ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183664473,C,T&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Gene3D:2.120.10.30,Superfamily_domains:SSF101898		A/V		T	medium	3653/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=1111&re=1310&var=A1177V	deleterious(0)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Ala1177Val,ENST00000511685,;TENM3,missense_variant,p.Ala1177Val,ENST00000406950,NM_001080477.1;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;					1		MODERATE	3530/8100	A1177V	TEN3_HUMAN			Transcript		benign(0.003)	.	ENSP00000424226		CCDS47165.1			1	
RAPGEF6	0	LGGM	GRCh37	5	130771737	130771737	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	55	38	.	.	ENST00000296859.6:c.3770-2386G>T		*1257*	ENST00000296859				0	1		UPI000020C537	0		ENST00000509018		ENSG00000158987	20655		93			HGNC	p.G1361G		RAPGEF6		SNV							ENST00000308008	protein_coding							A		-/8357				D6RB02_HUMAN				RAPGEF6,synonymous_variant,p.=,ENST00000308008,NM_001164389.1;RAPGEF6,synonymous_variant,p.=,ENST00000512052,;RAPGEF6,intron_variant,,ENST00000509018,NM_016340.5,NM_001164386.1;RAPGEF6,intron_variant,,ENST00000307984,NM_001164387.1;CTC-432M15.3,intron_variant,,ENST00000514667,;RAPGEF6,intron_variant,,ENST00000507093,NM_001164388.1;RAPGEF6,intron_variant,,ENST00000296859,;RAPGEF6,intron_variant,,ENST00000512611,;RAPGEF6,downstream_gene_variant,,ENST00000515170,;							MODIFIER	-/4806		RPGF6_HUMAN			Transcript			.	ENSP00000421684		CCDS34225.1			1	
VPS53	0	LGGM	GRCh37	17	489579	489579	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	6	38	.	.	ENST00000437048.2:c.1244A>G	p.Asn415Ser	p.N415S	ENST00000437048	NM_001128159.2	415	aAt/aGt	0	1		UPI000013ECF4	0	NA	ENST00000571805		ENSG00000141252	25608		44	-0.585		HGNC	p.N415S	rs369165415	VPS53		SNV	C:0.0002		1	9.61E-05			ENST00000571805	protein_coding	getma.org/?cm=var&var=hg19,17,489579,T,C&fts=all		hmmpanther:PTHR12820:SF0,hmmpanther:PTHR12820,Pfam_domain:PF04100		N/S	C:0	C	neutral	1381/2356		getma.org/?cm=msa&ty=f&p=VPS53_HUMAN&rb=39&re=453&var=N415S	tolerated(1)	I3L4P9_HUMAN				VPS53,missense_variant,p.Asn415Ser,ENST00000437048,NM_001128159.2;VPS53,missense_variant,p.Asn217Ser,ENST00000446250,;VPS53,missense_variant,p.Asn386Ser,ENST00000291074,NM_018289.3;VPS53,missense_variant,p.Asn415Ser,ENST00000571805,;VPS53,missense_variant,p.Asn138Ser,ENST00000401468,;VPS53,intron_variant,,ENST00000574029,;VPS53,non_coding_transcript_exon_variant,,ENST00000576149,;VPS53,missense_variant,p.Asn367Ser,ENST00000389040,;VPS53,3_prime_UTR_variant,,ENST00000573028,;							MODERATE	1244/2100	N415S	VPS53_HUMAN			Transcript		benign(0.017)	.	ENSP00000459312	8.24E-06				1	
MUC16	0	LGGM	GRCh37	19	9085351	9085351	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	43	39	.	.	ENST00000397910.4:c.6464A>C	p.Asp2155Ala	p.D2155A	ENST00000397910	NM_024690.2	2155	gAt/gCt	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		82	0		HGNC	p.D2155A		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9085351,T,G&fts=all				D/A		G	neutral	6668/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=1004&re=3903&var=D2155A		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Asp2155Ala,ENST00000397910,NM_024690.2;							MODERATE	6464/43524	D2155A				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
ZNF724P	0	LGGM	GRCh37	19	23406720	23406720	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	48	39	.	.	ENST00000418100.1:c.327C>T	p.His109=	p.H109=	ENST00000418100		109	caC/caT	0	1	1	UPI0000EE61E4	0		ENST00000418100		ENSG00000196081	32460		87			HGNC	p.H109H		ZNF724P		SNV							ENST00000418100	protein_coding			hmmpanther:PTHR24384:SF101,hmmpanther:PTHR24384		H		A		445/2764				M0R3J2_HUMAN			YES	ZNF724P,synonymous_variant,p.=,ENST00000418100,;ZNF724P,downstream_gene_variant,,ENST00000597537,;							LOW	327/1860		ZN724_HUMAN			Transcript			.	ENSP00000413411					1	
EIF4A2	0	LGGM	GRCh37	3	186502891	186502891	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	42	42	.	.	ENST00000323963.5:c.348+1G>A		p.X116_splice	ENST00000323963				0	1	1	UPI0000000DD2	0		ENST00000323963		ENSG00000156976	3284		84			HGNC	-		EIF4A2		SNV							ENST00000323963	protein_coding							A		-/1919				Q96B07_HUMAN,J3KSN7_HUMAN,E7EMV8_HUMAN,C9JUF0_HUMAN			YES	EIF4A2,splice_donor_variant,,ENST00000323963,;EIF4A2,splice_donor_variant,,ENST00000440191,NM_001967.3;EIF4A2,splice_donor_variant,,ENST00000498746,;EIF4A2,intron_variant,,ENST00000356531,;RFC4,downstream_gene_variant,,ENST00000392481,NM_181573.2;RFC4,downstream_gene_variant,,ENST00000296273,NM_002916.3;RFC4,downstream_gene_variant,,ENST00000433496,;EIF4A2,downstream_gene_variant,,ENST00000445596,;EIF4A2,downstream_gene_variant,,ENST00000441007,;RFC4,downstream_gene_variant,,ENST00000417876,;SNORA81,upstream_gene_variant,,ENST00000408493,NR_002989.1;SNORA4,upstream_gene_variant,,ENST00000584302,NR_002588.1;SNORA63,upstream_gene_variant,,ENST00000363450,NR_002586.1;SNORA63,upstream_gene_variant,,ENST00000363548,;SNORD2,downstream_gene_variant,,ENST00000459163,NR_002587.1;RP11-573D15.9,upstream_gene_variant,,ENST00000577781,;EIF4A2,splice_donor_variant,,ENST00000425053,;EIF4A2,splice_donor_variant,,ENST00000466362,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000485101,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465267,;EIF4A2,non_coding_transcript_exon_variant,,ENST00000465032,;EIF4A2,intron_variant,,ENST00000426808,;EIF4A2,intron_variant,,ENST00000443963,;EIF4A2,intron_variant,,ENST00000429589,;EIF4A2,intron_variant,,ENST00000475653,;EIF4A2,intron_variant,,ENST00000495049,;EIF4A2,intron_variant,,ENST00000467585,;EIF4A2,upstream_gene_variant,,ENST00000468362,;RFC4,downstream_gene_variant,,ENST00000479307,;EIF4A2,upstream_gene_variant,,ENST00000492144,;EIF4A2,upstream_gene_variant,,ENST00000497177,;EIF4A2,upstream_gene_variant,,ENST00000475409,;EIF4A2,upstream_gene_variant,,ENST00000465792,;EIF4A2,downstream_gene_variant,,ENST00000465222,;EIF4A2,upstream_gene_variant,,ENST00000494445,;EIF4A2,downstream_gene_variant,,ENST00000486805,;EIF4A2,downstream_gene_variant,,ENST00000491473,;EIF4A2,upstream_gene_variant,,ENST00000461021,;EIF4A2,upstream_gene_variant,,ENST00000496382,;							HIGH	348/1224		IF4A2_HUMAN			Transcript			.	ENSP00000326381		CCDS3282.1			1	
FNDC3B	0	LGGM	GRCh37	3	172052737	172052737	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	40	45	.	.	ENST00000336824.4:c.1645A>G	p.Thr549Ala	p.T549A	ENST00000336824	NM_001135095.1	549	Act/Gct	0	1	1	UPI00001AE8B2	0	getma.org/pdb.php?prot=FND3B_HUMAN&from=476&to=560&var=T549A	ENST00000336824		ENSG00000075420	24670		85	-0.75		HGNC	p.T549A		FNDC3B		SNV							ENST00000415807	protein_coding	getma.org/?cm=var&var=hg19,3,172052737,A,G&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/A		G	neutral	1744/7904		getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=476&re=560&var=T549A	tolerated(0.37)				YES	FNDC3B,missense_variant,p.Thr549Ala,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Thr549Ala,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Thr549Ala,ENST00000416957,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000469491,;FNDC3B,non_coding_transcript_exon_variant,,ENST00000494000,;							MODERATE	1645/3615	T549A	FND3B_HUMAN			Transcript		benign(0.06)	.	ENSP00000338523		CCDS3217.1			1	
MMP14	0	LGGM	GRCh37	14	23312938	23312938	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	44	45	.	.	ENST00000311852.6:c.870C>T	p.Pro290=	p.P290=	ENST00000311852	NM_004995.3	290	ccC/ccT	0	1	1	UPI0000048136	0		ENST00000311852		ENSG00000157227	7160		89			HGNC	p.P290P		MMP14		SNV			1				ENST00000311852	protein_coding			hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF24,PIRSF_domain:PIRSF001191		P		T		1131/3732							YES	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,;							LOW	870/1749		MMP14_HUMAN			Transcript			.	ENSP00000308208		CCDS9577.1			1	
MUSK	0	LGGM	GRCh37	9	113547279	113547279	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	74	47	.	.	ENST00000374448.4:c.1569A>T	p.Gln523His	p.Q523H	ENST00000374448	NM_005592.3	523	caA/caT	0	1	1	UPI000006D2F7	0	NA	ENST00000374448		ENSG00000030304	7525		121	1.155		HGNC	p.Q529H		MUSK		SNV			1				ENST00000189978	protein_coding	getma.org/?cm=var&var=hg19,9,113547279,A,T&fts=all		Gene3D:3.30.200.20,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF63		Q/H		T	low	1703/2754		getma.org/?cm=msa&ty=f&p=MUSK_HUMAN&rb=449&re=574&var=Q523H	tolerated(0.08)				YES	MUSK,missense_variant,p.Gln515His,ENST00000416899,;MUSK,missense_variant,p.Gln523His,ENST00000374448,NM_005592.3,NM_001166281.1;MUSK,missense_variant,p.Gln523His,ENST00000189978,;MUSK,intron_variant,,ENST00000374438,;							MODERATE	1569/2610	Q523H	MUSK_HUMAN			Transcript		benign(0.127)	.	ENSP00000363571		CCDS48005.1			1	
FRAS1	0	LGGM	GRCh37	4	79410208	79410208	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111183	H111183N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	70	47	.	.	ENST00000264895.6:c.8932C>T	p.Arg2978Trp	p.R2978W	ENST00000264895	NM_025074.6	2978	Cgg/Tgg	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		117	2.645		HGNC	p.R2978W	rs772287156	FRAS1		SNV			1				ENST00000264895	protein_coding	getma.org/?cm=var&var=hg19,4,79410208,C,T&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878,Pfam_domain:PF03160,SMART_domains:SM00237,Superfamily_domains:SSF141072		R/W		T	medium	9372/12479	1.50E-05	getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=2902&re=3006&var=R2973W		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Arg2978Trp,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Arg1207Trp,ENST00000512123,;							MODERATE	8932/12039	R2973W	FRAS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264895	8.28E-06	CCDS54771.1			1	
MROH8	0	LGGM	GRCh37	20	35743619	35743619	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	54	51	.	.	ENST00000343811.4:c.2572C>T	p.Thr858Ile	p.T858I	ENST00000343811	NM_152503.4	858	aCc/aTc	0	1	1	UPI0000E5A31D	0	NA	ENST00000343811		ENSG00000101353	16125		105	0.975		HGNC	p.T660I		MROH8		SNV							ENST00000217333	protein_coding	getma.org/?cm=var&var=hg19,20,35743619,G,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF4,Superfamily_domains:SSF48371		T/I		A	low	2572/3425		getma.org/?cm=msa&ty=f&p=E7ETR9_HUMAN&rb=759&re=841&var=T831I	tolerated(0.08)	Q5JYR0_HUMAN,Q5JYQ9_HUMAN			YES	MROH8,missense_variant,p.Thr858Ile,ENST00000343811,NM_152503.4;MROH8,missense_variant,p.Thr831Ile,ENST00000400441,;MROH8,missense_variant,p.Thr817Ile,ENST00000441008,;MROH8,missense_variant,p.Thr660Ile,ENST00000217333,;MROH8,missense_variant,p.Thr459Ile,ENST00000417458,;							MODERATE	2573/3210	T831I				Transcript		probably_damaging(0.999)	.	ENSP00000339971					1	
SCN8A	0	LGGM	GRCh37	12	52200967	52200967	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	63	55	.	.	ENST00000354534.6:c.5697A>G	p.Ala1899=	p.A1899=	ENST00000354534	NM_014191.3	1899	gcA/gcG	0	1	1	UPI000006FD85	0		ENST00000354534		ENSG00000196876	10596		118			HGNC	p.A1858A		SCN8A		SNV			1				ENST00000545061	protein_coding			Pfam_domain:PF00612,PROSITE_profiles:PS50096,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF132,SMART_domains:SM00015		A		G		5875/11556				Q9P2Q6_HUMAN,Q8WWN3_HUMAN			YES	SCN8A,synonymous_variant,p.=,ENST00000354534,NM_014191.3,NM_001177984.2;SCN8A,synonymous_variant,p.=,ENST00000545061,;SCN8A,3_prime_UTR_variant,,ENST00000355133,;AC068987.1,upstream_gene_variant,,ENST00000599343,;RP11-923I11.3,downstream_gene_variant,,ENST00000565518,;							LOW	5697/5943		SCN8A_HUMAN			Transcript			.	ENSP00000346534		CCDS44891.1			1	
CENPF	0	LGGM	GRCh37	1	214794124	214794124	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H111183	H111183N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	122	63	.	.	ENST00000366955.3:c.700A>T	p.Arg234Ter	p.R234*	ENST00000366955	NM_016343.3	234	Aga/Tga	0	1	1	UPI00001AE985	0		ENST00000366955		ENSG00000117724	1857		185			HGNC	p.R234X		CENPF		SNV							ENST00000366955	protein_coding			Pfam_domain:PF10481,hmmpanther:PTHR18874		R/*		T		868/10307							YES	CENPF,stop_gained,p.Arg234Ter,ENST00000366955,NM_016343.3;							HIGH	700/9345		CENPF_HUMAN			Transcript			.	ENSP00000355922		CCDS31023.1			1	
CTAGE1	0	LGGM	GRCh37	18	19997560	19997560	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111183	H111183N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	100	68	.	.	ENST00000391403.2:c.215A>G	p.Glu72Gly	p.E72G	ENST00000391403	NM_172241.2	72	gAg/gGg	0	1	1	UPI00000721F4	0	NA	ENST00000391403		ENSG00000212710	24346		168	2.565		HGNC	p.E72G		CTAGE1		SNV							ENST00000391403	protein_coding	getma.org/?cm=var&var=hg19,18,19997560,T,C&fts=all		hmmpanther:PTHR23158,hmmpanther:PTHR23158:SF41		E/G		C	medium	319/4306		getma.org/?cm=msa&ty=f&p=CTGE2_HUMAN&rb=1&re=743&var=E72G	deleterious(0)	Q8NEG8_HUMAN			YES	CTAGE1,missense_variant,p.Glu72Gly,ENST00000391403,NM_172241.2;CTAGE1,upstream_gene_variant,,ENST00000525417,;RP11-863N1.4,downstream_gene_variant,,ENST00000603437,;							MODERATE	215/2238	E72G	CTGE2_HUMAN			Transcript		possibly_damaging(0.894)	.	ENSP00000375220		CCDS45837.1			1	
SLC12A1	0	LGGM	GRCh37	15	48524941	48524941	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H111183	H111183N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111183N.bam, H111183T.bam	Illumina HiSeq	146	78	.	.	ENST00000396577.3:c.993G>C	p.Leu331=	p.L331=	ENST00000396577	NM_001184832.1	331	ctG/ctC	0	1		UPI0000229BFB	0		ENST00000380993		ENSG00000074803	10910		224			HGNC	p.L331L		SLC12A1		SNV			1				ENST00000396577	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF45,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930		L		C		1209/4707				O76029_HUMAN,H0YLJ2_HUMAN				SLC12A1,synonymous_variant,p.=,ENST00000396577,NM_001184832.1;SLC12A1,synonymous_variant,p.=,ENST00000380993,NM_000338.2;SLC12A1,synonymous_variant,p.=,ENST00000558405,;SLC12A1,synonymous_variant,p.=,ENST00000559641,;SLC12A1,synonymous_variant,p.=,ENST00000330289,;SLC12A1,synonymous_variant,p.=,ENST00000558805,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000559723,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000560692,;SLC12A1,non_coding_transcript_exon_variant,,ENST00000558252,;SLC12A1,downstream_gene_variant,,ENST00000561127,;							LOW	993/3300		S12A1_HUMAN			Transcript			.	ENSP00000370381		CCDS10129.2			1	
ETFB	0	LGGM	GRCh37	19	51850258	51850258	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	5	2	.	.	ENST00000354232.4:c.766G>T	p.Glu256Ter	p.E256*	ENST00000354232	NM_001014763.1	256	Gag/Tag	0	1		UPI0000001BC9	0	NA	ENST00000309244		ENSG00000105379	3482		7	0		HGNC	p.E165X		ETFB		SNV			1				ENST00000309244	protein_coding	getma.org/?cm=var&var=hg19,19,51850258,C,A&fts=all		Gene3D:3.40.50.620,Pfam_domain:PF01012,PIRSF_domain:PIRSF000090,PROSITE_patterns:PS01065,hmmpanther:PTHR21294,SMART_domains:SM00893,Superfamily_domains:SSF52402		E/*		A	NA	585/900		NA						ETFB,stop_gained,p.Glu256Ter,ENST00000354232,NM_001014763.1;ETFB,stop_gained,p.Glu165Ter,ENST00000309244,NM_001985.2;ETFB,stop_gained,p.Glu112Ter,ENST00000596253,;VSIG10L,upstream_gene_variant,,ENST00000335624,NM_001163922.1;CTD-2616J11.9,intron_variant,,ENST00000600974,;CTD-2616J11.16,downstream_gene_variant,,ENST00000601148,;CTD-2616J11.16,downstream_gene_variant,,ENST00000594311,;ETFB,non_coding_transcript_exon_variant,,ENST00000594361,;ETFB,downstream_gene_variant,,ENST00000593992,;CTD-2616J11.11,downstream_gene_variant,,ENST00000600067,;							HIGH	493/768	E165*	ETFB_HUMAN			Transcript			.	ENSP00000311930		CCDS12828.1			1	
WIPI2	0	LGGM	GRCh37	7	5269293	5269293	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	6	2	.	.	ENST00000288828.4:c.1176C>A	p.Asp392Glu	p.D392E	ENST00000288828	NM_001278299.1	392	gaC/gaA	0	1	1	UPI0000073E34	0	NA	ENST00000288828		ENSG00000157954	32225		8	1.67		HGNC	p.D392E		WIPI2		SNV							ENST00000288828	protein_coding	getma.org/?cm=var&var=hg19,7,5269293,C,A&fts=all		hmmpanther:PTHR11227,hmmpanther:PTHR11227:SF27		D/E		A	low	1408/4476		getma.org/?cm=msa&ty=f&p=WIPI2_HUMAN&rb=228&re=427&var=D392E	tolerated(0.32)				YES	WIPI2,missense_variant,p.Asp392Glu,ENST00000288828,NM_001278299.1,NM_001033518.1,NM_015610.3;WIPI2,missense_variant,p.Asp374Glu,ENST00000401525,NM_016003.3;WIPI2,missense_variant,p.Asp374Glu,ENST00000382384,NM_001033519.1;WIPI2,missense_variant,p.Asp392Glu,ENST00000404704,;WIPI2,missense_variant,p.Asp333Glu,ENST00000484262,NM_001033520.1;WIPI2,downstream_gene_variant,,ENST00000488359,;WIPI2,downstream_gene_variant,,ENST00000480238,;WIPI2,non_coding_transcript_exon_variant,,ENST00000471851,;WIPI2,non_coding_transcript_exon_variant,,ENST00000466014,;WIPI2,non_coding_transcript_exon_variant,,ENST00000479690,;							MODERATE	1176/1365	D392E	WIPI2_HUMAN			Transcript		benign(0.23)	.	ENSP00000288828		CCDS5339.1			1	
HAGH	0	LGGM	GRCh37	16	1867246	1867246	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	17	3	.	.	ENST00000397356.3:c.568G>C	p.Gly190Arg	p.G190R	ENST00000397356	NM_005326.4	190	Ggg/Cgg	0	1	1	UPI00001FFAD0	0	getma.org/pdb.php?prot=GLO2_HUMAN&from=55&to=221&var=G190R	ENST00000397356		ENSG00000063854	4805		20	4.595		HGNC	p.G142R		HAGH		SNV							ENST00000397353	protein_coding	getma.org/?cm=var&var=hg19,16,1867246,C,G&fts=all		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		G/R		G	high	975/1744		getma.org/?cm=msa&ty=f&p=GLO2_HUMAN&rb=55&re=221&var=G190R	deleterious(0)	H3BV79_HUMAN,H3BQW8_HUMAN,B4DT01_HUMAN			YES	HAGH,missense_variant,p.Gly190Arg,ENST00000397356,NM_005326.4;HAGH,missense_variant,p.Gly142Arg,ENST00000566709,;HAGH,missense_variant,p.Gly142Arg,ENST00000397353,NM_001040427.1;HAGH,missense_variant,p.Gly121Arg,ENST00000564445,;HAGH,missense_variant,p.Gly142Arg,ENST00000569339,;HAGH,synonymous_variant,p.=,ENST00000455446,NM_001286249.1;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,;							MODERATE	568/927	G190R	GLO2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000380514		CCDS10447.2			1	
MYOT	0	LGGM	GRCh37	5	137206654	137206654	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	18	3	.	.	ENST00000239926.4:c.314C>A	p.Pro105His	p.P105H	ENST00000239926	NM_006790.2	105	cCt/cAt	0	1	1	UPI000013CA96	0	NA	ENST00000239926		ENSG00000120729	12399		21	0.695		HGNC	p.P105H		MYOT		SNV			1				ENST00000239926	protein_coding	getma.org/?cm=var&var=hg19,5,137206654,C,A&fts=all		hmmpanther:PTHR19897		P/H		A	neutral	688/2337		getma.org/?cm=msa&ty=f&p=MYOTI_HUMAN&rb=19&re=137&var=P105H	deleterious(0.01)	B4DT68_HUMAN			YES	MYOT,missense_variant,p.Pro105His,ENST00000239926,NM_006790.2;MYOT,5_prime_UTR_variant,,ENST00000515645,;MYOT,intron_variant,,ENST00000421631,NM_001135940.1;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,intron_variant,,ENST00000509812,;MYOT,intron_variant,,ENST00000511625,;							MODERATE	314/1497	P105H	MYOTI_HUMAN			Transcript		possibly_damaging(0.56)	.	ENSP00000239926		CCDS4194.1			1	
GREB1	0	LGGM	GRCh37	2	11725337	11725337	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	7	3	.	.	ENST00000381486.2:c.952C>T	p.Pro318Ser	p.P318S	ENST00000381486	NM_014668.3	318	Cca/Tca	0	1		UPI0000163937	0	NA	ENST00000234142		ENSG00000196208	24885		10	1.905		HGNC	p.P318S		GREB1		SNV							ENST00000381483	protein_coding	getma.org/?cm=var&var=hg19,2,11725337,C,T&fts=all		hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF13		P/S		T	medium	1214/8444		getma.org/?cm=msa&ty=f&p=GREB1_HUMAN&rb=1&re=1947&var=P318S	deleterious(0)					GREB1,missense_variant,p.Pro318Ser,ENST00000381486,NM_014668.3;GREB1,missense_variant,p.Pro318Ser,ENST00000234142,;GREB1,missense_variant,p.Pro318Ser,ENST00000263834,NM_148903.2;GREB1,missense_variant,p.Pro318Ser,ENST00000381483,NM_033090.2;GREB1,upstream_gene_variant,,ENST00000432985,;GREB1,downstream_gene_variant,,ENST00000389825,;RN7SL674P,downstream_gene_variant,,ENST00000463397,;							MODERATE	952/5850	P318S	GREB1_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000234142		CCDS42655.1			1	
PSMC4	0	LGGM	GRCh37	19	40480715	40480715	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	17	3	.	.	ENST00000157812.2:c.653C>T	p.Ala218Val	p.A218V	ENST00000157812	NM_006503.3	218	gCg/gTg	0	1	1	UPI0000132373	0	getma.org/pdb.php?prot=PRS6B_HUMAN&from=202&to=335&var=A218V	ENST00000157812		ENSG00000013275	9551		20	2.345		HGNC	p.A187V	rs774574844	PSMC4		SNV							ENST00000455878	protein_coding	getma.org/?cm=var&var=hg19,19,40480715,C,T&fts=all		hmmpanther:PTHR23073:SF8,hmmpanther:PTHR23073,Pfam_domain:PF00004,TIGRFAM_domain:TIGR01242,Gene3D:3.40.50.300,SMART_domains:SM00382,Superfamily_domains:SSF52540		A/V		T	medium	851/1591	1.50E-05	getma.org/?cm=msa&ty=f&p=PRS6B_HUMAN&rb=202&re=335&var=A218V	deleterious(0)	A8K2M0_HUMAN			YES	PSMC4,missense_variant,p.Ala218Val,ENST00000157812,NM_006503.3,NM_153001.2;PSMC4,missense_variant,p.Ala187Val,ENST00000455878,;PSMC4,non_coding_transcript_exon_variant,,ENST00000601697,;PSMC4,non_coding_transcript_exon_variant,,ENST00000593455,;PSMC4,non_coding_transcript_exon_variant,,ENST00000596386,;PSMC4,upstream_gene_variant,,ENST00000601194,;							MODERATE	653/1257	A218V	PRS6B_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000157812	8.24E-06	CCDS12547.1			1	
POU3F4	0	LGGM	GRCh37	X	82763810	82763810	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	9	3	.	.	ENST00000373200.2:c.478C>A	p.Gln160Lys	p.Q160K	ENST00000373200	NM_000307.4	160	Cag/Aag	0	1	1	UPI000045785D	0	NA	ENST00000373200		ENSG00000196767	9217		12	1.24		HGNC	p.Q160K		POU3F4		SNV			1				ENST00000373200	protein_coding	getma.org/?cm=var&var=hg19,X,82763810,C,A&fts=all		hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF66,PIRSF_domain:PIRSF002629		Q/K		A	low	542/1507		getma.org/?cm=msa&ty=f&p=PO3F4_HUMAN&rb=1&re=179&var=Q160K	tolerated(0.61)				YES	POU3F4,missense_variant,p.Gln160Lys,ENST00000373200,NM_000307.4;RP3-326L13.3,upstream_gene_variant,,ENST00000607789,;RP3-326L13.2,non_coding_transcript_exon_variant,,ENST00000607095,;							MODERATE	478/1086	Q160K	PO3F4_HUMAN			Transcript		benign(0.015)	.	ENSP00000362296		CCDS14450.1			1	
BMP8B	0	LGGM	GRCh37	1	40230345	40230345	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	37	3	.	.	ENST00000372827.3:c.818C>T	p.Pro273Leu	p.P273L	ENST00000372827	NM_001720.3	273	cCg/cTg	0	1	1	UPI000013C9D9	0	NA	ENST00000372827		ENSG00000116985	1075	8.66E-05	40	1.59		HGNC	p.P298L	rs758257351	BMP8B	6.06E-05	SNV				0.00039			ENST00000397360	protein_coding	getma.org/?cm=var&var=hg19,1,40230345,G,A&fts=all		PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF119,Low_complexity_(Seg):seg		P/L		A	low	1194/4822		getma.org/?cm=msa&ty=f&p=BMP8B_HUMAN&rb=252&re=297&var=P273L	tolerated(0.26)				YES	BMP8B,missense_variant,p.Pro273Leu,ENST00000372827,NM_001720.3;BMP8B,missense_variant,p.Pro298Leu,ENST00000397360,;OXCT2,downstream_gene_variant,,ENST00000327582,NM_022120.1;PPIE,downstream_gene_variant,,ENST00000372830,NM_001195007.1;PPIE,downstream_gene_variant,,ENST00000356511,NM_203456.2;PPIE,downstream_gene_variant,,ENST00000467741,;							MODERATE	818/1209	P273L	BMP8B_HUMAN			Transcript		benign(0.004)	.	ENSP00000361915	4.94E-05	CCDS444.1			1	
OR2G3	0	LGGM	GRCh37	1	247769690	247769690	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	26	3	.	.	ENST00000320002.2:c.803A>T	p.Gln268Leu	p.Q268L	ENST00000320002	NM_001001914.1	268	cAg/cTg	0	1	1	UPI0000041CD9	0	NA	ENST00000320002		ENSG00000177476	15008		29	0.605		HGNC	p.Q268L		OR2G3		SNV							ENST00000320002	protein_coding	getma.org/?cm=var&var=hg19,1,247769690,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF110,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		Q/L		T	neutral	835/983		getma.org/?cm=msa&ty=f&p=OR2G3_HUMAN&rb=139&re=283&var=Q268L	deleterious(0.01)				YES	OR2G3,missense_variant,p.Gln268Leu,ENST00000320002,NM_001001914.1;RNU6-691P,downstream_gene_variant,,ENST00000516585,;RP11-978I15.10,intron_variant,,ENST00000435333,;RP11-978I15.10,intron_variant,,ENST00000446347,;							MODERATE	803/930	Q268L	OR2G3_HUMAN			Transcript		possibly_damaging(0.464)	.	ENSP00000326301		CCDS31093.1			1	
ZNF827	0	LGGM	GRCh37	4	146806981	146806981	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	34	3	.	.	ENST00000379448.4:c.1596G>A	p.Leu532=	p.L532=	ENST00000379448	NM_178835.3	532	ctG/ctA	0	1		UPI0000DA58F8	0		ENST00000508784		ENSG00000151612	27193		37			HGNC	p.L532L		ZNF827		SNV							ENST00000379448	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF4		L		T		1824/7463								ZNF827,synonymous_variant,p.=,ENST00000508784,;ZNF827,synonymous_variant,p.=,ENST00000379448,NM_178835.3;ZNF827,synonymous_variant,p.=,ENST00000513320,;ZNF827,intron_variant,,ENST00000508995,;ZNF827,upstream_gene_variant,,ENST00000513840,;							LOW	1596/3246		ZN827_HUMAN			Transcript			.	ENSP00000421863					1	
WDFY3	0	LGGM	GRCh37	4	85742344	85742344	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	35	3	.	.	ENST00000295888.4:c.1484T>G	p.Ile495Arg	p.I495R	ENST00000295888	NM_014991.4	495	aTa/aGa	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		38	1.245		HGNC	p.I495R		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85742344,A,C&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		I/R		C	low	1892/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=401&re=600&var=I495R	deleterious(0)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Ile495Arg,ENST00000322366,;WDFY3,missense_variant,p.Ile495Arg,ENST00000295888,NM_014991.4;WDFY3,non_coding_transcript_exon_variant,,ENST00000426414,;							MODERATE	1484/10581	I495R	WDFY3_HUMAN			Transcript		possibly_damaging(0.62)	.	ENSP00000295888		CCDS3609.1			1	
FCN1	0	LGGM	GRCh37	9	137809656	137809656	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	21	3	.	.	ENST00000371806.3:c.62A>T	p.His21Leu	p.H21L	ENST00000371806	NM_002003.3	21	cAt/cTt	0	1	1	UPI000012A5A7	0	NA	ENST00000371806		ENSG00000085265	3623		24	0.14		HGNC	p.H21L		FCN1		SNV							ENST00000371806	protein_coding	getma.org/?cm=var&var=hg19,9,137809656,T,A&fts=all		hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF165,Cleavage_site_(Signalp):SignalP-noTM		H/L		A	neutral	154/1286		getma.org/?cm=msa&ty=f&p=FCN1_HUMAN&rb=1&re=49&var=H21L	tolerated(0.43)	Q92531_HUMAN			YES	FCN1,missense_variant,p.His21Leu,ENST00000371806,NM_002003.3;							MODERATE	62/981	H21L	FCN1_HUMAN			Transcript		benign(0)	.	ENSP00000360871		CCDS6985.1			1	
N4BP3	0	LGGM	GRCh37	5	177548355	177548355	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	20	4	.	.	ENST00000274605.5:c.1107+2T>C		p.X369_splice	ENST00000274605	NM_015111.1			0	1	1	UPI00001C1E2A	0		ENST00000274605		ENSG00000145911	29852		24			HGNC	-		N4BP3		SNV							ENST00000274605	protein_coding							C		-/6080							YES	N4BP3,splice_donor_variant,,ENST00000274605,NM_015111.1;							HIGH	1107/1635		N4BP3_HUMAN			Transcript			.	ENSP00000274605		CCDS34307.1			1	
PTPRS	0	LGGM	GRCh37	19	5265018	5265018	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	11	4	.	.	ENST00000357368.4:c.568+1G>T		p.X190_splice	ENST00000357368	NM_002850.3			0	1	1	UPI000059D63E	0		ENST00000357368		ENSG00000105426	9681		15			HGNC	-		PTPRS		SNV							ENST00000353284	protein_coding							A		-/7347				K7ESP0_HUMAN,K7ERX4_HUMAN			YES	PTPRS,splice_donor_variant,,ENST00000357368,NM_002850.3;PTPRS,splice_donor_variant,,ENST00000262963,;PTPRS,splice_donor_variant,,ENST00000348075,NM_130854.2;PTPRS,splice_donor_variant,,ENST00000587303,;PTPRS,splice_donor_variant,,ENST00000353284,NM_130853.2,NM_130855.2;PTPRS,splice_donor_variant,,ENST00000588012,;PTPRS,splice_donor_variant,,ENST00000592099,;PTPRS,splice_region_variant,,ENST00000372412,;PTPRS,splice_donor_variant,,ENST00000588552,;							HIGH	568/5847		PTPRS_HUMAN			Transcript			.	ENSP00000349932		CCDS45930.1			1	
LHCGR	0	LGGM	GRCh37	2	48915170	48915170	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	78	4	.	.	ENST00000294954.7:c.1766C>T	p.Ala589Val	p.A589V	ENST00000294954	NM_000233.3	589	gCc/gTc	0	1	1	UPI000013E1E1	0	getma.org/pdb.php?prot=LSHR_HUMAN&from=376&to=623&var=A589V	ENST00000294954		ENSG00000138039	6585		82	2.905		HGNC	p.A589V	COSM3407884	LHCGR		SNV			1			1	ENST00000294954	protein_coding	getma.org/?cm=var&var=hg19,2,48915170,G,A&fts=all		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		A/V		A	medium	1788/3044		getma.org/?cm=msa&ty=f&p=LSHR_HUMAN&rb=376&re=623&var=A589V	deleterious(0)	Q53S49_HUMAN,Q4ZFZ4_HUMAN			YES	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,;					1		MODERATE	1766/2100	A589V	LSHR_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000294954		CCDS1842.1			1	
RPGRIP1L	0	LGGM	GRCh37	16	53691398	53691398	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	34	4	.	.	ENST00000379925.3:c.1548A>G	p.Leu516=	p.L516=	ENST00000379925	NM_015272.2	516	ctA/ctG	0	1	1	UPI000047DAF2	0		ENST00000379925		ENSG00000103494	29168		38			HGNC	p.L516L		RPGRIP1L		SNV			1				ENST00000379925	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14240,hmmpanther:PTHR14240:SF4		L		C		1599/5297				J3QLR9_HUMAN,I3L2P2_HUMAN,H3BPF5_HUMAN			YES	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,,ENST00000565343,;							LOW	1548/3948		FTM_HUMAN			Transcript			.	ENSP00000369257		CCDS32447.1			1	
ASCC1	0	LGGM	GRCh37	10	73972994	73972994	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	37	4	.	.	ENST00000342444.4:c.63C>A	p.Val21=	p.V21=	ENST00000342444	NM_001198799.2	21	gtC/gtA	0	1	1	UPI000006F7E9	0		ENST00000342444		ENSG00000138303	24268		41			HGNC	p.V21V		ASCC1		SNV			1				ENST00000394915	protein_coding			PIRSF_domain:PIRSF027019,hmmpanther:PTHR13360,hmmpanther:PTHR13360:SF1		V		T		165/2270				E9PJM2_HUMAN			YES	ASCC1,synonymous_variant,p.=,ENST00000342444,NM_001198799.2;ASCC1,synonymous_variant,p.=,ENST00000394919,NM_001198798.2;ASCC1,synonymous_variant,p.=,ENST00000317168,NM_001198800.2;ASCC1,synonymous_variant,p.=,ENST00000317126,;ASCC1,synonymous_variant,p.=,ENST00000545550,;ASCC1,synonymous_variant,p.=,ENST00000394915,;ASCC1,synonymous_variant,p.=,ENST00000533958,;ASCC1,synonymous_variant,p.=,ENST00000524829,;ASCC1,synonymous_variant,p.=,ENST00000527593,;ASCC1,synonymous_variant,p.=,ENST00000526751,;ASCC1,synonymous_variant,p.=,ENST00000531048,;ASCC1,5_prime_UTR_variant,,ENST00000530461,;ANAPC16,upstream_gene_variant,,ENST00000299381,NM_173473.3,NM_001242548.1,NM_001242546.1,NM_001242547.1;ASCC1,upstream_gene_variant,,ENST00000486689,;ASCC1,non_coding_transcript_exon_variant,,ENST00000492502,;ANAPC16,upstream_gene_variant,,ENST00000478193,;ASCC1,synonymous_variant,p.=,ENST00000532011,;							LOW	63/1203		ASCC1_HUMAN			Transcript			.	ENSP00000339404		CCDS55713.1			1	
EFHC2	0	LGGM	GRCh37	X	44091821	44091821	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	43	4	.	.	ENST00000420999.1:c.1526A>G	p.Tyr509Cys	p.Y509C	ENST00000420999	NM_025184.3	509	tAc/tGc	0	1	1	UPI00000717F2	0	NA	ENST00000420999		ENSG00000183690	26233		47	2.19		HGNC	p.Y509C		EFHC2		SNV							ENST00000333807	protein_coding	getma.org/?cm=var&var=hg19,X,44091821,T,C&fts=all		PROSITE_profiles:PS51336,hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11,SMART_domains:SM00676		Y/C		C	medium	1610/2464		getma.org/?cm=msa&ty=f&p=EFHC2_HUMAN&rb=431&re=538&var=Y509C	deleterious(0)				YES	EFHC2,missense_variant,p.Tyr509Cys,ENST00000420999,NM_025184.3;							MODERATE	1526/2250	Y509C	EFHC2_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000404232		CCDS55405.1			1	
COL6A3	0	LGGM	GRCh37	2	238243299	238243299	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	26	5	.	.	ENST00000295550.4:c.9199A>T	p.Arg3067Ter	p.R3067*	ENST00000295550	NM_004369.3	3067	Aga/Tga	0	1	1	UPI0000456F39	0	NA	ENST00000295550		ENSG00000163359	2213		31	0		HGNC	p.R2867X		COL6A3		SNV			1				ENST00000346358	protein_coding	getma.org/?cm=var&var=hg19,2,238243299,T,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,Superfamily_domains:SSF49265		R/*		A	NA	9652/10749		NA		Q8N4Z1_HUMAN,D9ZGF2_HUMAN			YES	COL6A3,stop_gained,p.Arg3067Ter,ENST00000295550,NM_004369.3;COL6A3,stop_gained,p.Arg2866Ter,ENST00000347401,;COL6A3,stop_gained,p.Arg2861Ter,ENST00000353578,NM_057167.3;COL6A3,stop_gained,p.Arg2867Ter,ENST00000346358,;COL6A3,stop_gained,p.Arg2861Ter,ENST00000409809,;COL6A3,stop_gained,p.Arg2460Ter,ENST00000472056,NM_057166.4;COL6A3,non_coding_transcript_exon_variant,,ENST00000493608,;COL6A3,upstream_gene_variant,,ENST00000473258,;COL6A3,non_coding_transcript_exon_variant,,ENST00000491769,;COL6A3,downstream_gene_variant,,ENST00000468792,;							HIGH	9199/9534	R3067*	CO6A3_HUMAN			Transcript			.	ENSP00000295550		CCDS33412.1			1	
KLK3	0	LGGM	GRCh37	19	51361489	51361489	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	18	5	.	.	ENST00000326003.2:c.411G>A	p.Lys137=	p.K137=	ENST00000326003	NM_001030047.1	137	aaG/aaA	0	1	1	UPI0000001C9E	0		ENST00000326003		ENSG00000142515	6364		23			HGNC	p.K100K		KLK3		SNV							ENST00000597286	protein_coding			Superfamily_domains:SSF50494,SMART_domains:SM00020,Gene3D:2.40.10.10,Pfam_domain:PF00089,hmmpanther:PTHR24275:SF15,hmmpanther:PTHR24275,PROSITE_profiles:PS50240		K		A		452/1463				Q6LDS3_HUMAN,Q546G3_HUMAN			YES	KLK3,synonymous_variant,p.=,ENST00000360617,;KLK3,synonymous_variant,p.=,ENST00000326003,NM_001030047.1,NM_001648.2,NM_001030048.1;KLK3,synonymous_variant,p.=,ENST00000593997,;KLK3,synonymous_variant,p.=,ENST00000595952,;KLK3,synonymous_variant,p.=,ENST00000598145,;KLK3,synonymous_variant,p.=,ENST00000597483,;KLK3,synonymous_variant,p.=,ENST00000601503,;KLK3,synonymous_variant,p.=,ENST00000597286,;KLK2,upstream_gene_variant,,ENST00000593493,;KLK3,3_prime_UTR_variant,,ENST00000422986,;KLK3,3_prime_UTR_variant,,ENST00000596185,;KLK3,non_coding_transcript_exon_variant,,ENST00000601349,;KLK3,non_coding_transcript_exon_variant,,ENST00000596333,;KLK3,non_coding_transcript_exon_variant,,ENST00000601812,;KLK3,intron_variant,,ENST00000595392,;KLK3,downstream_gene_variant,,ENST00000595151,;							LOW	411/786		KLK3_HUMAN			Transcript			.	ENSP00000314151		CCDS12807.1			1	
TMPRSS11B	0	LGGM	GRCh37	4	69093683	69093683	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	29	5	.	.	ENST00000332644.5:c.1197C>T	p.Val399=	p.V399=	ENST00000332644	NM_182502.3	399	gtC/gtT	0	1	1	UPI000013E249	0		ENST00000332644		ENSG00000185873	25398		34			HGNC	p.V399V		TMPRSS11B		SNV							ENST00000332644	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF037941,SMART_domains:SM00020,Superfamily_domains:SSF50494		V		A		1359/2671							YES	TMPRSS11B,synonymous_variant,p.=,ENST00000332644,NM_182502.3;TMPRSS11B,downstream_gene_variant,,ENST00000502365,;TMPRSS11B,downstream_gene_variant,,ENST00000510856,;RP11-646E20.6,non_coding_transcript_exon_variant,,ENST00000514295,;							LOW	1197/1251		TM11B_HUMAN			Transcript			.	ENSP00000330475		CCDS3521.1			1	
SLC35B1	0	LGGM	GRCh37	17	47781524	47781524	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	34	5	.	.	ENST00000240333.6:c.593A>G	p.Gln198Arg	p.Q198R	ENST00000240333	NM_005827.2	198	cAa/cGa	0	1	1	UPI0000073E10	0	NA	ENST00000240333		ENSG00000121073	20798		39	0.6		HGNC	p.Q198R		SLC35B1		SNV							ENST00000240333	protein_coding	getma.org/?cm=var&var=hg19,17,47781524,T,C&fts=all		hmmpanther:PTHR10778:SF10,hmmpanther:PTHR10778,Pfam_domain:PF08449		Q/R		C	neutral	715/1606		getma.org/?cm=msa&ty=f&p=S35B1_HUMAN&rb=14&re=318&var=Q198R	tolerated(0.22)				YES	SLC35B1,missense_variant,p.Gln198Arg,ENST00000240333,NM_005827.2,NM_001278784.1;SLC35B1,missense_variant,p.Gln235Arg,ENST00000415270,;SLC35B1,missense_variant,p.Gln131Arg,ENST00000503334,;SLC35B1,missense_variant,p.Gln232Arg,ENST00000515850,;SLC35B1,missense_variant,p.Gln201Arg,ENST00000508520,;SLC35B1,missense_variant,p.Gln167Arg,ENST00000514907,;SLC35B1,missense_variant,p.Gln155Arg,ENST00000511763,;SLC35B1,downstream_gene_variant,,ENST00000511657,;RP11-613C6.2,upstream_gene_variant,,ENST00000512720,;SLC35B1,3_prime_UTR_variant,,ENST00000507773,;SLC35B1,3_prime_UTR_variant,,ENST00000502268,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000504260,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000502406,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000435059,;SLC35B1,non_coding_transcript_exon_variant,,ENST00000513508,;SLC35B1,upstream_gene_variant,,ENST00000507477,;SLC35B1,downstream_gene_variant,,ENST00000509781,;SLC35B1,downstream_gene_variant,,ENST00000508607,;SLC35B1,upstream_gene_variant,,ENST00000508749,;SLC35B1,downstream_gene_variant,,ENST00000505765,;SLC35B1,downstream_gene_variant,,ENST00000508926,;							MODERATE	593/969	Q198R	S35B1_HUMAN			Transcript		benign(0.058)	.	ENSP00000240333					1	
POU5F2	0	LGGM	GRCh37	5	93076839	93076839	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	28	5	.	.	ENST00000510627.4:c.431A>T	p.Gln144Leu	p.Q144L	ENST00000510627	NM_153216.1	144	cAg/cTg	0	1	1	UPI0000135E4C	0	getma.org/pdb.php?prot=PO5F2_HUMAN&from=119&to=192&var=Q144L	ENST00000510627		ENSG00000248483	26367		33	3.04		HGNC	p.Q144L		POU5F2		SNV							ENST00000510627	protein_coding	getma.org/?cm=var&var=hg19,5,93076839,T,A&fts=all		PROSITE_profiles:PS51179,hmmpanther:PTHR11636:SF14,hmmpanther:PTHR11636,PROSITE_patterns:PS00035,Gene3D:1.10.260.40,Pfam_domain:PF00157,SMART_domains:SM00352,Superfamily_domains:SSF47413,Prints_domain:PR00028		Q/L		A	medium	505/1368		getma.org/?cm=msa&ty=f&p=PO5F2_HUMAN&rb=119&re=192&var=Q144L	deleterious(0)				YES	POU5F2,missense_variant,p.Gln144Leu,ENST00000510627,NM_153216.1;FAM172A,intron_variant,,ENST00000395965,NM_032042.5;FAM172A,intron_variant,,ENST00000505869,NM_001163418.1;FAM172A,intron_variant,,ENST00000509163,NM_001163417.1;FAM172A,intron_variant,,ENST00000509739,;RP11-185E12.2,upstream_gene_variant,,ENST00000606528,;POU5F2,upstream_gene_variant,,ENST00000606183,;FAM172A,intron_variant,,ENST00000502503,;							MODERATE	431/987	Q144L	PO5F2_HUMAN			Transcript		benign(0.253)	.	ENSP00000464890		CCDS59489.1			1	
CCDC134	0	LGGM	GRCh37	22	42209753	42209753	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	32	6	.	.	ENST00000255784.5:c.493-2A>T		p.X165_splice	ENST00000255784	NM_024821.2			0	1	1	UPI000007311E	0		ENST00000255784		ENSG00000100147	26185		38			HGNC	-		CCDC134		SNV							ENST00000255784	protein_coding							T		-/1270							YES	CCDC134,splice_acceptor_variant,,ENST00000255784,NM_024821.2;CCDC134,intron_variant,,ENST00000402061,;							HIGH	493/690		CC134_HUMAN			Transcript			.	ENSP00000255784		CCDS33654.1			1	
PRSS16	0	LGGM	GRCh37	6	27215718	27215718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	28	6	.	.	ENST00000230582.3:c.128A>T	p.Gln43Leu	p.Q43L	ENST00000230582	NM_005865.3	43	cAg/cTg	0	1	1	UPI0000137773	0	NA	ENST00000230582		ENSG00000112812	9480		34	-0.55		HGNC	p.Q43L		PRSS16		SNV							ENST00000466364	protein_coding	getma.org/?cm=var&var=hg19,6,27215718,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11010,hmmpanther:PTHR11010:SF22		Q/L		T	neutral	143/2716		getma.org/?cm=msa&ty=f&p=TSSP_HUMAN&rb=1&re=63&var=Q43L	tolerated(0.36)	Q7Z5N5_HUMAN			YES	PRSS16,missense_variant,p.Gln43Leu,ENST00000230582,NM_005865.3;PRSS16,missense_variant,p.Gln43Leu,ENST00000421826,;PRSS16,upstream_gene_variant,,ENST00000475106,;PRSS16,upstream_gene_variant,,ENST00000485993,;PRSS16,upstream_gene_variant,,ENST00000377456,;PRSS16,upstream_gene_variant,,ENST00000484493,;PRSS16,upstream_gene_variant,,ENST00000468138,;PRSS16,upstream_gene_variant,,ENST00000471463,;PRSS16,upstream_gene_variant,,ENST00000478690,;PRSS16,upstream_gene_variant,,ENST00000459736,;PRSS16,missense_variant,p.Gln43Leu,ENST00000454665,;PRSS16,missense_variant,p.Gln43Leu,ENST00000470870,;PRSS16,missense_variant,p.Gln43Leu,ENST00000468930,;PRSS16,missense_variant,p.Gln43Leu,ENST00000466364,;PRSS16,upstream_gene_variant,,ENST00000492575,;PRSS16,upstream_gene_variant,,ENST00000488649,;PRSS16,upstream_gene_variant,,ENST00000495683,;PRSS16,upstream_gene_variant,,ENST00000481125,;PRSS16,upstream_gene_variant,,ENST00000462664,;							MODERATE	128/1545	Q43L	TSSP_HUMAN			Transcript		benign(0)	.	ENSP00000230582		CCDS4623.1			1	
STATH	0	LGGM	GRCh37	4	70865501	70865501	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	20	6	.	.	ENST00000246895.4:c.77T>G	p.Phe26Cys	p.F26C	ENST00000246895	NM_003154.2	26	tTt/tGt	0	1	1	UPI000013609C	0		ENST00000246895		ENSG00000126549	11369		26			HGNC	p.F26C	COSM1057031	STATH		SNV						1	ENST00000246895	protein_coding			Pfam_domain:PF03875,PIRSF_domain:PIRSF002565,hmmpanther:PTHR15057,hmmpanther:PTHR15057:SF0		F/C		G		188/598			tolerated_low_confidence(0.07)				YES	STATH,missense_variant,p.Phe26Cys,ENST00000246895,NM_003154.2;STATH,intron_variant,,ENST00000381060,NM_001009181.1;STATH,non_coding_transcript_exon_variant,,ENST00000507211,;STATH,non_coding_transcript_exon_variant,,ENST00000510010,;STATH,non_coding_transcript_exon_variant,,ENST00000511658,;STATH,downstream_gene_variant,,ENST00000507962,;STATH,upstream_gene_variant,,ENST00000506576,;					1		MODERATE	77/189		STAT_HUMAN			Transcript		unknown(0)	.	ENSP00000246895		CCDS3533.1			1	
ATP13A2	0	LGGM	GRCh37	1	17318302	17318302	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	34	6	.	.	ENST00000326735.8:c.2178C>A	p.Asn726Lys	p.N726K	ENST00000326735		726	aaC/aaA	0	1	1	UPI0000049724	0	getma.org/pdb.php?prot=AT132_HUMAN&from=510&to=887&var=N726K	ENST00000326735		ENSG00000159363	30213		40	3.545		HGNC	p.N721K		ATP13A2		SNV			1				ENST00000341676	protein_coding	getma.org/?cm=var&var=hg19,1,17318302,G,T&fts=all		Gene3D:3.40.50.1000,Pfam_domain:PF12710,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF86,Superfamily_domains:SSF56784,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01657		N/K		T	high	2212/3840		getma.org/?cm=msa&ty=f&p=AT132_HUMAN&rb=510&re=887&var=N726K	deleterious(0)	Q8N4D4_HUMAN			YES	ATP13A2,missense_variant,p.Asn721Lys,ENST00000452699,NM_001141973.1,NM_022089.2;ATP13A2,missense_variant,p.Asn726Lys,ENST00000326735,;ATP13A2,missense_variant,p.Asn721Lys,ENST00000341676,NM_001141974.1;ATP13A2,missense_variant,p.Asn196Lys,ENST00000503552,;ATP13A2,upstream_gene_variant,,ENST00000502418,;ATP13A2,downstream_gene_variant,,ENST00000506174,;RP1-37C10.3,intron_variant,,ENST00000446261,;ATP13A2,downstream_gene_variant,,ENST00000502860,;ATP13A2,non_coding_transcript_exon_variant,,ENST00000466561,;ATP13A2,downstream_gene_variant,,ENST00000463860,;ATP13A2,downstream_gene_variant,,ENST00000509392,;							MODERATE	2178/3543	N726K	AT132_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000327214		CCDS175.1			1	
NFX1	0	LGGM	GRCh37	9	33352711	33352711	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	18	6	.	.	ENST00000379540.3:c.2723A>G	p.Tyr908Cys	p.Y908C	ENST00000379540	NM_002504.4	908	tAt/tGt	0	1	1	UPI0000072140	0	NA	ENST00000379540		ENSG00000086102	7803		24	2.72		HGNC	p.Y908C		NFX1		SNV							ENST00000379521	protein_coding	getma.org/?cm=var&var=hg19,9,33352711,A,G&fts=all		hmmpanther:PTHR12360,hmmpanther:PTHR12360:SF0		Y/C		G	medium	2785/4604		getma.org/?cm=msa&ty=f&p=NFX1_HUMAN&rb=855&re=1004&var=Y908C	deleterious(0)				YES	NFX1,missense_variant,p.Tyr908Cys,ENST00000379540,NM_002504.4;NFX1,missense_variant,p.Tyr908Cys,ENST00000379521,NM_147133.2;NFX1,downstream_gene_variant,,ENST00000318524,NM_147134.2;Y_RNA,downstream_gene_variant,,ENST00000363674,;NFX1,downstream_gene_variant,,ENST00000466971,;							MODERATE	2723/3363	Y908C	NFX1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000368856		CCDS6538.1			1	
DCLK1	0	LGGM	GRCh37	13	36700203	36700203	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	30	6	.	.	ENST00000255448.4:c.72G>T	p.Gly24=	p.G24=	ENST00000255448	NM_004734.4	24	ggG/ggT	0	1		UPI000004F5EA	0		ENST00000360631		ENSG00000133083	2700		36			HGNC	p.G24G		DCLK1		SNV							ENST00000255448	protein_coding			hmmpanther:PTHR24347,hmmpanther:PTHR24347:SF123		G		A		284/5629				B7Z655_HUMAN				DCLK1,synonymous_variant,p.=,ENST00000255448,NM_004734.4;DCLK1,synonymous_variant,p.=,ENST00000360631,;DCLK1,synonymous_variant,p.=,ENST00000379892,;							LOW	72/2223		DCLK1_HUMAN			Transcript			.	ENSP00000353846					1	
ADAMTS20	0	LGGM	GRCh37	12	43819460	43819460	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	53	6	.	.	ENST00000389420.3:c.4141A>T	p.Arg1381Ter	p.R1381*	ENST00000389420	NM_025003.3	1381	Aga/Tga	0	1	1	UPI00004565F4	0	NA	ENST00000389420		ENSG00000173157	17178		59	0		HGNC	p.R499X		ADAMTS20		SNV							ENST00000395541	protein_coding	getma.org/?cm=var&var=hg19,12,43819460,T,A&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		R/*		A	NA	4141/6076		NA					YES	ADAMTS20,stop_gained,p.Arg1381Ter,ENST00000389420,NM_025003.3;ADAMTS20,stop_gained,p.Arg1381Ter,ENST00000553158,;ADAMTS20,stop_gained,p.Arg499Ter,ENST00000395541,;ADAMTS20,stop_gained,p.Arg511Ter,ENST00000549670,;							HIGH	4141/5733	R1381*	ATS20_HUMAN			Transcript			.	ENSP00000374071		CCDS31778.2			1	
ADAM11	0	LGGM	GRCh37	17	42837141	42837141	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	19	6	.	.	ENST00000200557.6:c.113A>T	p.Gln38Leu	p.Q38L	ENST00000200557	NM_002390.4	38	cAg/cTg	0	1	1	UPI000013C629	0	NA	ENST00000200557		ENSG00000073670	189		25	0		HGNC	p.Q38L		ADAM11		SNV							ENST00000200557	protein_coding	getma.org/?cm=var&var=hg19,17,42837141,A,T&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF114,Low_complexity_(Seg):seg		Q/L		T	neutral	282/4571		getma.org/?cm=msa&ty=f&p=ADA11_HUMAN&rb=1&re=44&var=Q38L	tolerated(0.26)				YES	ADAM11,missense_variant,p.Gln38Leu,ENST00000200557,NM_002390.4;ADAM11,5_prime_UTR_variant,,ENST00000535346,;ADAM11,missense_variant,p.Gln38Leu,ENST00000355638,;							MODERATE	113/2310	Q38L	ADA11_HUMAN			Transcript		benign(0.002)	.	ENSP00000200557		CCDS11486.1			1	
KIAA1211	0	LGGM	GRCh37	4	57182265	57182265	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	19	6	.	.	ENST00000504228.1:c.2597A>T	p.Gln866Leu	p.Q866L	ENST00000504228		866	cAg/cTg	0	1		UPI0000237309	0	NA	ENST00000264229		ENSG00000109265	29219		25	2.095		HGNC	p.Q866L		KIAA1211		SNV							ENST00000264229	protein_coding	getma.org/?cm=var&var=hg19,4,57182265,A,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF350		Q/L		T	medium	2988/4109		getma.org/?cm=msa&ty=f&p=K1211_HUMAN&rb=493&re=1231&var=Q866L	deleterious(0)					KIAA1211,missense_variant,p.Gln866Leu,ENST00000504228,;KIAA1211,missense_variant,p.Gln859Leu,ENST00000541073,;KIAA1211,missense_variant,p.Gln866Leu,ENST00000264229,NM_020722.1;KIAA1211,upstream_gene_variant,,ENST00000514330,;KIAA1211,downstream_gene_variant,,ENST00000505410,;MRPL22P1,downstream_gene_variant,,ENST00000505398,;							MODERATE	2597/3702	Q866L	K1211_HUMAN			Transcript		benign(0.145)	.	ENSP00000264229		CCDS43230.1			1	
PCDHGA11	0	LGGM	GRCh37	5	140800932	140800932	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	63	6	.	.	ENST00000398587.2:c.138G>T	p.Val46=	p.V46=	ENST00000398587	NM_032092.1	46	gtG/gtT	0	1	1	UPI00000739DC	0		ENST00000398587		ENSG00000253873	8698		69			HGNC	p.V46V		PCDHGA11		SNV							ENST00000518882	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF08266,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF84,SMART_domains:SM00112,Superfamily_domains:SSF49313		V		T		171/3936				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA11,synonymous_variant,p.=,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,synonymous_variant,p.=,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;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.2;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;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;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,;							LOW	138/2808		PCDGB_HUMAN			Transcript			.	ENSP00000381589		CCDS47294.1			1	
IVL	0	LGGM	GRCh37	1	152882626	152882626	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	48	6	.	.	ENST00000368764.3:c.353A>T	p.Gln118Leu	p.Q118L	ENST00000368764		118	cAg/cTg	0	1	1	UPI000013E24A	0	NA	ENST00000368764		ENSG00000163207	6187		54	1.845		HGNC	p.Q118L		IVL		SNV							ENST00000368764	protein_coding	getma.org/?cm=var&var=hg19,1,152882626,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13905,Low_complexity_(Seg):seg		Q/L		T	low	417/2153		getma.org/?cm=msa&ty=f&p=INVO_HUMAN&rb=114&re=155&var=Q118L	deleterious_low_confidence(0.01)	J3KPN6_HUMAN			YES	IVL,missense_variant,p.Gln118Leu,ENST00000368764,;IVL,5_prime_UTR_variant,,ENST00000392667,NM_005547.2;							MODERATE	353/1758	Q118L	INVO_HUMAN			Transcript		benign(0.035)	.	ENSP00000357753		CCDS1030.1			1	
LAMA2	0	LGGM	GRCh37	6	129823881	129823881	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	26	6	.	.	ENST00000421865.2:c.8322T>A	p.Ile2774=	p.I2774=	ENST00000421865	NM_001079823.1	2774	atT/atA	0	1	1	UPI00003673E0	0		ENST00000421865		ENSG00000196569	6482		32			HGNC	p.I2774I		LAMA2		SNV			1				ENST00000421865	protein_coding			Gene3D:2.60.120.200,PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,Superfamily_domains:SSF49899		I		A		8371/9640				Q59H37_HUMAN			YES	LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;LAMA2,downstream_gene_variant,,ENST00000498257,;							LOW	8322/9369		LAMA2_HUMAN			Transcript			.	ENSP00000400365		CCDS5138.1			1	
CHCHD5	0	LGGM	GRCh37	2	113343841	113343841	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	23	6	.	.	ENST00000324913.5:c.208C>T	p.Arg70Ter	p.R70*	ENST00000324913	NM_032309.2	70	Cga/Tga	0	1	1	UPI0000034E2C	0	NA	ENST00000324913		ENSG00000125611	17840	0.000346	29	0		HGNC	p.R70X	rs755436931	CHCHD5		SNV							ENST00000409719	protein_coding	getma.org/?cm=var&var=hg19,2,113343841,C,T&fts=all		Pfam_domain:PF06747,hmmpanther:PTHR21107,hmmpanther:PTHR21107:SF0		R/*		T	NA	415/691	1.50E-05	NA					YES	CHCHD5,stop_gained,p.Arg70Ter,ENST00000409719,;CHCHD5,stop_gained,p.Arg70Ter,ENST00000324913,NM_032309.2;AC012442.6,upstream_gene_variant,,ENST00000436885,;AC012442.5,upstream_gene_variant,,ENST00000414784,;CHCHD5,non_coding_transcript_exon_variant,,ENST00000489052,;CHCHD5,non_coding_transcript_exon_variant,,ENST00000469030,;CHCHD5,3_prime_UTR_variant,,ENST00000454841,;							HIGH	208/333	R70*	CHCH5_HUMAN			Transcript			.	ENSP00000325655	4.12E-05	CCDS2098.1			1	
KANSL3	0	LGGM	GRCh37	2	97271074	97271074	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	40	7	.	.	ENST00000431828.1:c.1916A>T	p.Gln639Leu	p.Q639L	ENST00000431828		639	cAa/cTa	0	1	1	UPI0000207C82	0	NA	ENST00000431828		ENSG00000114982	25473		47	0.345		HGNC	p.Q552L		KANSL3		SNV							ENST00000599854	protein_coding	getma.org/?cm=var&var=hg19,2,97271074,T,A&fts=all		hmmpanther:PTHR13136		Q/L		A	neutral	1993/5153		getma.org/?cm=msa&ty=f&p=KANL3_HUMAN&rb=601&re=800&var=Q665L	tolerated_low_confidence(0.34)	F8WEN2_HUMAN,B4E1W4_HUMAN			YES	KANSL3,missense_variant,p.Gln552Leu,ENST00000599854,NM_001115016.2;KANSL3,missense_variant,p.Gln639Leu,ENST00000431828,;KANSL3,missense_variant,p.Gln459Leu,ENST00000440133,;KANSL3,intron_variant,,ENST00000441706,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,missense_variant,p.Gln665Leu,ENST00000420155,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000447759,;KANSL3,3_prime_UTR_variant,,ENST00000597150,;KANSL3,3_prime_UTR_variant,,ENST00000444759,;KANSL3,non_coding_transcript_exon_variant,,ENST00000476534,;KANSL3,upstream_gene_variant,,ENST00000484020,;							MODERATE	1916/2637	Q665L	KANL3_HUMAN			Transcript		benign(0.017)	.	ENSP00000396749		CCDS46361.1			1	
SPEG	0	LGGM	GRCh37	2	220355595	220355595	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	21	7	.	.	ENST00000312358.7:c.9302T>C	p.Ile3101Thr	p.I3101T	ENST00000312358	NM_005876.4	3101	aTt/aCt	0	1	1	UPI000066D99E	0	getma.org/pdb.php?prot=SPEG_HUMAN&from=2966&to=3218&var=I3101T	ENST00000312358		ENSG00000072195	16901		28	3.38		HGNC	p.I3101T		SPEG		SNV			1				ENST00000312358	protein_coding	getma.org/?cm=var&var=hg19,2,220355595,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		I/T		C	medium	9434/10782		getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=2966&re=3218&var=I3101T		B9A038_HUMAN			YES	SPEG,missense_variant,p.Ile3101Thr,ENST00000312358,NM_005876.4;SPEG,upstream_gene_variant,,ENST00000412982,NM_001286811.1;AC053503.11,intron_variant,,ENST00000429882,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;							MODERATE	9302/9804	I3101T	SPEG_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000311684		CCDS42824.1			1	
NRIP3	0	LGGM	GRCh37	11	9007265	9007265	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	30	7	.	.	ENST00000309166.3:c.555T>A	p.Ala185=	p.A185=	ENST00000309166	NM_020645.2	185	gcT/gcA	0	1	1	UPI000004B7A9	0		ENST00000309166		ENSG00000175352	1167		37			HGNC	p.A13A		NRIP3		SNV							ENST00000531142	protein_coding			hmmpanther:PTHR12917:SF2,hmmpanther:PTHR12917,Pfam_domain:PF09668,Superfamily_domains:SSF50630		A		T		669/3809				B7Z3Y4_HUMAN			YES	NRIP3,synonymous_variant,p.=,ENST00000309166,NM_020645.2;NRIP3,synonymous_variant,p.=,ENST00000531142,;NRIP3,intron_variant,,ENST00000531090,;NRIP3,upstream_gene_variant,,ENST00000534759,;NRIP3,downstream_gene_variant,,ENST00000525100,;							LOW	555/726		NRIP3_HUMAN			Transcript			.	ENSP00000310205		CCDS31422.1			1	
LIN54	0	LGGM	GRCh37	4	83860886	83860886	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	28	8	.	.	ENST00000340417.3:c.1246G>T	p.Val416Phe	p.V416F	ENST00000340417	NM_194282.2	416	Gtt/Ttt	0	1	1	UPI00001D75DE	0	NA	ENST00000340417		ENSG00000189308	25397		36	0.55		HGNC	p.V327F		LIN54		SNV							ENST00000395283	protein_coding	getma.org/?cm=var&var=hg19,4,83860886,C,A&fts=all		hmmpanther:PTHR12446,hmmpanther:PTHR12446:SF2		V/F		A	neutral	1624/6127		getma.org/?cm=msa&ty=f&p=LIN54_HUMAN&rb=401&re=519&var=V416F	deleterious(0.01)				YES	LIN54,missense_variant,p.Val416Phe,ENST00000340417,NM_194282.2;LIN54,missense_variant,p.Val327Phe,ENST00000395283,;LIN54,missense_variant,p.Val195Phe,ENST00000442461,NM_001115008.1;LIN54,missense_variant,p.Val195Phe,ENST00000446851,;LIN54,missense_variant,p.Val327Phe,ENST00000506560,;LIN54,missense_variant,p.Val416Phe,ENST00000505397,;LIN54,missense_variant,p.Val195Phe,ENST00000510557,NM_001115007.1;LIN54,3_prime_UTR_variant,,ENST00000395282,;LIN54,3_prime_UTR_variant,,ENST00000510877,;LIN54,3_prime_UTR_variant,,ENST00000508171,;							MODERATE	1246/2250	V416F	LIN54_HUMAN			Transcript		possibly_damaging(0.723)	.	ENSP00000341947		CCDS3599.1			1	
CCDC57	0	LGGM	GRCh37	17	80092018	80092018	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	17	8	.	.	ENST00000392346.2:c.246C>T	p.Gly82=	p.G82=	ENST00000392346		82	ggC/ggT	0	1		UPI000155D557	0		ENST00000389641		ENSG00000176155	27564		25			HGNC	p.G31G		CCDC57		SNV							ENST00000324808	protein_coding							A		-/3000								CCDC57,synonymous_variant,p.=,ENST00000392346,;CCDC57,synonymous_variant,p.=,ENST00000419322,;CCDC57,intron_variant,,ENST00000392347,NM_198082.2;CCDC57,intron_variant,,ENST00000389641,;CCDC57,non_coding_transcript_exon_variant,,ENST00000483145,;CCDC57,downstream_gene_variant,,ENST00000582040,;							MODIFIER	-/2751		CCD57_HUMAN			Transcript			.	ENSP00000374292					1	
OGFOD3	0	LGGM	GRCh37	17	80356079	80356079	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	25	8	.	.	ENST00000329197.5:c.816G>C	p.Pro272=	p.P272=	ENST00000329197		272	ccG/ccC	0	1		UPI0000071320	0		ENST00000313056		ENSG00000181396	26174		33			HGNC	p.E50Q		OGFOD3		SNV							ENST00000582593	protein_coding			Pfam_domain:PF13640,PROSITE_profiles:PS51471,hmmpanther:PTHR14650,hmmpanther:PTHR14650:SF1,SMART_domains:SM00702		P		G		968/4287								OGFOD3,synonymous_variant,p.=,ENST00000313056,NM_024648.2,NM_175902.4;OGFOD3,synonymous_variant,p.=,ENST00000329197,;OGFOD3,synonymous_variant,p.=,ENST00000583897,;OGFOD3,synonymous_variant,p.=,ENST00000577495,;OGFOD3,synonymous_variant,p.=,ENST00000583445,;OGFOD3,synonymous_variant,p.=,ENST00000582593,;RP13-20L14.4,downstream_gene_variant,,ENST00000579188,;OGFOD3,upstream_gene_variant,,ENST00000578287,;OGFOD3,3_prime_UTR_variant,,ENST00000580445,;OGFOD3,non_coding_transcript_exon_variant,,ENST00000579407,;OGFOD3,upstream_gene_variant,,ENST00000578586,;							LOW	816/960		OGFD3_HUMAN			Transcript			.	ENSP00000320116		CCDS11811.1			1	
HK1	0	LGGM	GRCh37	10	71136699	71136699	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	40	9	.	.	ENST00000404387.2:c.897G>T	p.Lys299Asn	p.K299N	ENST00000404387		299	aaG/aaT	0	1		UPI0000111BA5	0	getma.org/pdb.php?prot=HXK1_HUMAN&from=223&to=462&var=K295N	ENST00000359426		ENSG00000156515	4922		49	4.365		HGNC	p.K299N		HK1		SNV			1				ENST00000404387	protein_coding	getma.org/?cm=var&var=hg19,10,71136699,G,T&fts=all		Superfamily_domains:SSF53067,Pfam_domain:PF03727,Gene3D:3.40.367.20,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF10		K/N		T	high	989/3605		getma.org/?cm=msa&ty=f&p=HXK1_HUMAN&rb=223&re=462&var=K295N	deleterious(0)	Q71V75_HUMAN,Q59FD4_HUMAN,B4DG62_HUMAN				HK1,missense_variant,p.Lys330Asn,ENST00000448642,;HK1,missense_variant,p.Lys283Asn,ENST00000360289,NM_033498.2,NM_033500.2,NM_033497.2;HK1,missense_variant,p.Lys295Asn,ENST00000359426,NM_000188.2;HK1,missense_variant,p.Lys294Asn,ENST00000298649,NM_033496.2;HK1,missense_variant,p.Lys299Asn,ENST00000404387,;HK1,non_coding_transcript_exon_variant,,ENST00000494253,;HK1,non_coding_transcript_exon_variant,,ENST00000493591,;							MODERATE	885/2754	K295N	HXK1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000352398		CCDS7292.1			1	
SKP1	0	LGGM	GRCh37	5	133494318	133494318	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	35	9	.	.	ENST00000353411.6:c.316-32A>G		*106*	ENST00000353411	NM_170679.2			0	1	1	UPI00000002C9	0		ENST00000353411		ENSG00000113558	10899		44			HGNC	p.Y95C		SKP1		SNV							ENST00000521216	protein_coding							C		-/9467				E7ERH2_HUMAN,E5RGM3_HUMAN			YES	SKP1,missense_variant,p.Tyr95Cys,ENST00000521216,;SKP1,intron_variant,,ENST00000353411,NM_170679.2;SKP1,intron_variant,,ENST00000522552,NM_006930.3;SKP1,intron_variant,,ENST00000517625,;SKP1,intron_variant,,ENST00000522855,;SKP1,intron_variant,,ENST00000519321,;SKP1,intron_variant,,ENST00000328392,;SKP1,downstream_gene_variant,,ENST00000520417,;SKP1,intron_variant,,ENST00000517691,;SKP1,intron_variant,,ENST00000523966,;SKP1,intron_variant,,ENST00000519054,;							MODIFIER	-/492		SKP1_HUMAN			Transcript			.	ENSP00000231487		CCDS4171.1			1	
TRBV6-1	0	LGGM	GRCh37	7	142028224	142028224	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111209	H111209N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	57	9	.	.	ENST00000390353.2:c.47C>A	p.Ala16Glu	p.A16E	ENST00000390353		16	gCa/gAa	0	1	1	UPI0000115AB1	0		ENST00000390353		ENSG00000211706	12226	8.72E-05	66			HGNC	p.A16E	rs778019334	TRBV6-1		SNV							ENST00000390353	TR_V_gene			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF18		A/E		A		104/401			deleterious(0)	A0A586_HUMAN			YES	TRBV6-1,missense_variant,p.Ala16Glu,ENST00000390353,;TRBV7-1,upstream_gene_variant,,ENST00000547918,;							MODERATE	47/344					Transcript		possibly_damaging(0.605)	.	ENSP00000374876	8.39E-06				1	
EPB41L3	0	LGGM	GRCh37	18	5406866	5406866	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	42	9	.	.	ENST00000341928.2:c.2259T>A	p.Asn753Lys	p.N753K	ENST00000341928	NM_012307.3	753	aaT/aaA	0	1	1	UPI0000129AFA	0	NA	ENST00000341928		ENSG00000082397	3380		51	1.65		HGNC	p.N25K		EPB41L3		SNV							ENST00000427684	protein_coding	getma.org/?cm=var&var=hg19,18,5406866,A,T&fts=all		hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF04382,PIRSF_domain:PIRSF002304		N/K		T	low	2600/4706		getma.org/?cm=msa&ty=f&p=E41L3_HUMAN&rb=717&re=765&var=N753K	deleterious(0.03)	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN			YES	EPB41L3,missense_variant,p.Asn753Lys,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Asn753Lys,ENST00000342933,;EPB41L3,missense_variant,p.Asn572Lys,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Asn584Lys,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Asn572Lys,ENST00000400111,;EPB41L3,missense_variant,p.Asn25Lys,ENST00000542146,;EPB41L3,missense_variant,p.Asn25Lys,ENST00000427684,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578524,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000582729,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000579271,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581387,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580647,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000580316,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578395,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581292,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000578196,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000584055,;							MODERATE	2259/3264	N753K	E41L3_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000343158		CCDS11838.1			1	
FANCB	0	LGGM	GRCh37	X	14871243	14871243	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	64	10	.	.	ENST00000398334.1:c.1244A>T	p.Lys415Met	p.K415M	ENST00000398334	NM_001018113.1	415	aAg/aTg	0	1		UPI000006E70A	0	NA	ENST00000324138		ENSG00000181544	3583		74	1.955		HGNC	p.K415M		FANCB		SNV			1				ENST00000452869	protein_coding	getma.org/?cm=var&var=hg19,X,14871243,T,A&fts=all				K/M		A	medium	1398/2894		getma.org/?cm=msa&ty=f&p=FANCB_HUMAN&rb=394&re=561&var=K415M	deleterious(0)	C9J5X9_HUMAN				FANCB,missense_variant,p.Lys415Met,ENST00000398334,NM_001018113.1;FANCB,missense_variant,p.Lys415Met,ENST00000324138,NM_152633.2;FANCB,missense_variant,p.Lys415Met,ENST00000452869,;							MODERATE	1244/2580	K415M	FANCB_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000326819		CCDS14161.1			1	
APOB	0	LGGM	GRCh37	2	21230313	21230313	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	70	10	.	.	ENST00000233242.1:c.9427A>G	p.Thr3143Ala	p.T3143A	ENST00000233242	NM_000384.2	3143	Aca/Gca	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		80	2.595		HGNC	p.T3143A		APOB		SNV			1				ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21230313,T,C&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		T/A		C	medium	9555/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=3073&re=3272&var=T3143A		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Thr3143Ala,ENST00000233242,NM_000384.2;							MODERATE	9427/13692	T3143A	APOB_HUMAN			Transcript		benign(0.04)	.	ENSP00000233242		CCDS1703.1			1	
DAW1	0	LGGM	GRCh37	2	228771871	228771871	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	79	11	.	.	ENST00000309931.2:c.876T>C	p.Asn292=	p.N292=	ENST00000309931	NM_178821.1	292	aaT/aaC	0	1	1	UPI000006EAC6	0		ENST00000309931		ENSG00000123977	26383		90			HGNC	p.N292N		DAW1		SNV							ENST00000373666	protein_coding			PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		N		C		959/1704				G5EA46_HUMAN,C9JP90_HUMAN			YES	DAW1,synonymous_variant,p.=,ENST00000373666,;DAW1,synonymous_variant,p.=,ENST00000309931,NM_178821.1;DAW1,synonymous_variant,p.=,ENST00000545118,;DAW1,downstream_gene_variant,,ENST00000454999,;							LOW	876/1248		DAW1_HUMAN			Transcript			.	ENSP00000311899		CCDS2470.1			1	
FMN2	0	LGGM	GRCh37	1	240341264	240341264	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	38	11	.	.	ENST00000319653.9:c.1826A>C	p.His609Pro	p.H609P	ENST00000319653	NM_020066.4	609	cAc/cCc	0	1	1	UPI00015FA087	0	NA	ENST00000319653		ENSG00000155816	14074		49	1.825		HGNC	p.H609P		FMN2		SNV			1				ENST00000319653	protein_coding	getma.org/?cm=var&var=hg19,1,240341264,A,C&fts=all		hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185		H/P		C	low	2056/6434		getma.org/?cm=msa&ty=f&p=FMN2_HUMAN&rb=531&re=830&var=H609P		Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,missense_variant,p.His609Pro,ENST00000319653,NM_020066.4;FMN2,missense_variant,p.His42Pro,ENST00000447095,;RP11-567G24.3,non_coding_transcript_exon_variant,,ENST00000412311,;RP11-567G24.3,non_coding_transcript_exon_variant,,ENST00000444308,;							MODERATE	1826/5169	H609P	FMN2_HUMAN			Transcript		unknown(0)	.	ENSP00000318884		CCDS31069.2			1	
GPX6	0	LGGM	GRCh37	6	28474208	28474208	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	38	12	.	.	ENST00000361902.1:c.242-2A>T		p.X81_splice	ENST00000361902	NM_182701.1			0	1	1	UPI00001B2975	0		ENST00000361902		ENSG00000198704	4558		50			HGNC	-		GPX6		SNV							ENST00000361902	protein_coding							A		-/1712				A3KN74_HUMAN			YES	GPX6,splice_acceptor_variant,,ENST00000361902,NM_182701.1;GPX6,splice_acceptor_variant,,ENST00000474923,;GPX6,splice_acceptor_variant,,ENST00000483058,;							HIGH	242/666		GPX6_HUMAN			Transcript			.	ENSP00000354581		CCDS43432.1			1	
QSER1	0	LGGM	GRCh37	11	32990671	32990671	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	59	12	.	.	ENST00000399302.2:c.4800T>C	p.His1600=	p.H1600=	ENST00000399302	NM_001076786.1	1600	caT/caC	0	1	1	UPI0000E467AF	0		ENST00000399302		ENSG00000060749	26154		71			HGNC	p.H1361H		QSER1		SNV							ENST00000527788	protein_coding			Low_complexity_(Seg):seg,Pfam_domain:PF13926,hmmpanther:PTHR14709,hmmpanther:PTHR14709:SF2		H		C		5135/9335				E9PQD3_HUMAN,B3KWV1_HUMAN			YES	QSER1,synonymous_variant,p.=,ENST00000399302,NM_001076786.1;QSER1,synonymous_variant,p.=,ENST00000527788,;QSER1,synonymous_variant,p.=,ENST00000524678,;QSER1,downstream_gene_variant,,ENST00000528034,;							LOW	4800/5208		QSER1_HUMAN			Transcript			.	ENSP00000382241		CCDS41631.1			1	
PAX2	0	LGGM	GRCh37	10	102584420	102584420	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	45	13	.	.	ENST00000428433.1:c.1004G>A	p.Ser335Asn	p.S335N	ENST00000428433	NM_003987.3	335	aGc/aAc	0	1	1	UPI00001AEA24	0	NA	ENST00000428433		ENSG00000075891	8616		58	1.965		HGNC	p.S311N		PAX2		SNV			1				ENST00000556085	protein_coding	getma.org/?cm=var&var=hg19,10,102584420,G,A&fts=all		Pfam_domain:PF12403,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF172		S/N		A	medium	1554/4126		getma.org/?cm=msa&ty=f&p=PAX2_HUMAN&rb=301&re=416&var=S335N	tolerated(0.07)	Q5SZP1_HUMAN			YES	PAX2,missense_variant,p.Ser335Asn,ENST00000370296,;PAX2,missense_variant,p.Ser335Asn,ENST00000428433,NM_003987.3,NM_003990.3;PAX2,missense_variant,p.Ser312Asn,ENST00000355243,NM_000278.3,NM_003989.3;PAX2,missense_variant,p.Ser312Asn,ENST00000361791,NM_003988.3;PAX2,missense_variant,p.Ser311Asn,ENST00000556085,;							MODERATE	1004/1254	S335N	PAX2_HUMAN			Transcript		benign(0.05)	.	ENSP00000396259		CCDS53569.1			1	
MEGF10	0	LGGM	GRCh37	5	126674887	126674887	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	36	13	.	.	ENST00000274473.6:c.192A>T	p.Leu64=	p.L64=	ENST00000274473	NM_032446.2	64	ctA/ctT	0	1	1	UPI000006F868	0		ENST00000274473		ENSG00000145794	29634		49			HGNC	p.L64L		MEGF10		SNV			1				ENST00000418761	protein_coding			PROSITE_profiles:PS51041,hmmpanther:PTHR24035,hmmpanther:PTHR24035:SF75		L		T		459/7594							YES	MEGF10,synonymous_variant,p.=,ENST00000274473,NM_032446.2;MEGF10,synonymous_variant,p.=,ENST00000503335,NM_001256545.1;MEGF10,synonymous_variant,p.=,ENST00000508365,;MEGF10,synonymous_variant,p.=,ENST00000418761,;							LOW	192/3423		MEG10_HUMAN			Transcript			.	ENSP00000274473		CCDS4142.1			1	
MUC16	0	LGGM	GRCh37	19	9071730	9071730	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	91	14	.	.	ENST00000397910.4:c.15716A>C	p.Asp5239Ala	p.D5239A	ENST00000397910	NM_024690.2	5239	gAt/gCt	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		105	0		HGNC	p.D5239A		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9071730,T,G&fts=all				D/A		G	neutral	15920/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=5231&re=5430&var=D5241A		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Asp5239Ala,ENST00000397910,NM_024690.2;							MODERATE	15716/43524	D5241A				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
C1orf141	0	LGGM	GRCh37	1	67558765	67558765	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	51	14	.	.	ENST00000371007.2:c.1126T>C	p.Tyr376His	p.Y376H	ENST00000371007		376	Tat/Cat	0	1		UPI0000470AFA	0	NA	ENST00000371006		ENSG00000203963	32044		65	0.345		HGNC	p.Y376H		C1orf141		SNV							ENST00000371006	protein_coding	getma.org/?cm=var&var=hg19,1,67558765,A,G&fts=all		Pfam_domain:PF15078		Y/H		G	neutral	1147/2053		getma.org/?cm=msa&ty=f&p=CA141_HUMAN&rb=357&re=400&var=Y376H	tolerated(0.21)					C1orf141,missense_variant,p.Tyr376His,ENST00000371007,;C1orf141,missense_variant,p.Tyr376His,ENST00000371006,;C1orf141,missense_variant,p.Tyr376His,ENST00000544837,NM_001276351.1;C1orf141,downstream_gene_variant,,ENST00000448166,;C1orf141,downstream_gene_variant,,ENST00000603691,;C1orf141,non_coding_transcript_exon_variant,,ENST00000371004,;							MODERATE	1126/1203	Y376H	CA141_HUMAN			Transcript		benign(0.033)	.	ENSP00000360045		CCDS30745.1			1	
COL15A1	0	LGGM	GRCh37	9	101749634	101749634	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111209	H111209N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	58	14	.	.	ENST00000375001.3:c.707A>T	p.Asp236Val	p.D236V	ENST00000375001	NM_001855.4	236	gAc/gTc	0	1	1	UPI0000211506	0	NA	ENST00000375001		ENSG00000204291	2192		72	0.345		HGNC	p.D236V		COL15A1		SNV							ENST00000375001	protein_coding	getma.org/?cm=var&var=hg19,9,101749634,A,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF398,Superfamily_domains:SSF49899		D/V		T	neutral	1130/5491		getma.org/?cm=msa&ty=f&p=COFA1_HUMAN&rb=236&re=435&var=D236V	deleterious(0)				YES	COL15A1,missense_variant,p.Asp236Val,ENST00000375001,NM_001855.4;COL15A1,downstream_gene_variant,,ENST00000471477,;							MODERATE	707/4167	D236V	COFA1_HUMAN			Transcript		benign(0.203)	.	ENSP00000364140		CCDS35081.1			1	
TEC	0	LGGM	GRCh37	4	48151591	48151591	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	24	15	.	.	ENST00000381501.3:c.989A>G	p.His330Arg	p.H330R	ENST00000381501	NM_003215.2	330	cAt/cGt	0	1	1	UPI000013CFAE	0	getma.org/pdb.php?prot=TEC_HUMAN&from=247&to=330&var=H330R	ENST00000381501		ENSG00000135605	11719		39	3.825		HGNC	p.H330R		TEC		SNV							ENST00000381501	protein_coding	getma.org/?cm=var&var=hg19,4,48151591,T,C&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF219,SMART_domains:SM00252,Superfamily_domains:SSF55550		H/R		C	high	1147/3687		getma.org/?cm=msa&ty=f&p=TEC_HUMAN&rb=247&re=330&var=H330R	deleterious(0)	Q14219_HUMAN			YES	TEC,missense_variant,p.His330Arg,ENST00000381501,NM_003215.2;Y_RNA,upstream_gene_variant,,ENST00000365144,;TEC,non_coding_transcript_exon_variant,,ENST00000511471,;TEC,3_prime_UTR_variant,,ENST00000505452,;TEC,upstream_gene_variant,,ENST00000515146,;							MODERATE	989/1896	H330R	TEC_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000370912		CCDS3481.1			1	
UTRN	0	LGGM	GRCh37	6	144782336	144782336	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111209	H111209N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	86	18	.	.	ENST00000367545.3:c.2711T>C	p.Leu904Pro	p.L904P	ENST00000367545	NM_007124.2	904	cTg/cCg	0	1	1	UPI00003673F1	0	NA	ENST00000367545		ENSG00000152818	12635		104	0.55		HGNC	p.L904P		UTRN		SNV							ENST00000367545	protein_coding	getma.org/?cm=var&var=hg19,6,144782336,T,C&fts=all		hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,PIRSF_domain:PIRSF002341		L/P		C	neutral	2711/12339		getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=727&re=926&var=L904P	deleterious(0.01)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,missense_variant,p.Leu904Pro,ENST00000367545,NM_007124.2;							MODERATE	2711/10302	L904P	UTRO_HUMAN			Transcript		benign(0.282)	.	ENSP00000356515		CCDS34547.1			1	
EPC2	0	LGGM	GRCh37	2	149528365	149528365	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	121	18	.	.	ENST00000258484.6:c.1235G>A	p.Arg412His	p.R412H	ENST00000258484	NM_015630.3	412	cGt/cAt	0	1	1	UPI00005A7FE2	0	NA	ENST00000258484		ENSG00000135999	24543		139	0.75		HGNC	p.R412H	rs373763027	EPC2		SNV	A:0.0005			0.000207			ENST00000258484	protein_coding	getma.org/?cm=var&var=hg19,2,149528365,G,A&fts=all		hmmpanther:PTHR14898,hmmpanther:PTHR14898:SF1		R/H	A:0	A	neutral	1269/3642	1.52E-05	getma.org/?cm=msa&ty=f&p=EPC2_HUMAN&rb=350&re=549&var=R412H	tolerated(0.51)	Q53SN6_HUMAN,Q53SL1_HUMAN,E7ETK1_HUMAN,C9J1X4_HUMAN			YES	EPC2,missense_variant,p.Arg412His,ENST00000258484,NM_015630.3;							MODERATE	1235/2424	R412H	EPC2_HUMAN			Transcript		benign(0.001)	.	ENSP00000258484	2.48E-05	CCDS46422.1			1	
MMP13	0	LGGM	GRCh37	11	102822749	102822749	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	98	22	.	.	ENST00000260302.3:c.791C>G	p.Ser264Cys	p.S264C	ENST00000260302	NM_002427.3	264	tCt/tGt	0	1	1	UPI00000422BC	0	getma.org/pdb.php?prot=MMP13_HUMAN&from=112&to=267&var=S264C	ENST00000260302		ENSG00000137745	7159		120	3.26		HGNC	p.S264C		MMP13		SNV			1				ENST00000340273	protein_coding	getma.org/?cm=var&var=hg19,11,102822749,G,C&fts=all		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		S/C		C	medium	820/2716		getma.org/?cm=msa&ty=f&p=MMP13_HUMAN&rb=112&re=267&var=S264C	deleterious(0)	Q6LBE5_HUMAN			YES	MMP13,missense_variant,p.Ser264Cys,ENST00000260302,NM_002427.3;MMP13,missense_variant,p.Ser264Cys,ENST00000340273,;							MODERATE	791/1416	S264C	MMP13_HUMAN			Transcript		benign(0.288)	.	ENSP00000260302		CCDS8324.1			1	
EDC4	0	LGGM	GRCh37	16	67917593	67917593	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	86	24	.	.	ENST00000358933.5:c.3972G>T	p.Gln1324His	p.Q1324H	ENST00000358933	NM_014329.4	1324	caG/caT	0	1	1	UPI0000141377	0	getma.org/pdb.php?prot=EDC4_HUMAN&from=1294&to=1401&var=Q1324H	ENST00000358933		ENSG00000038358	17157		110	3.085		HGNC	p.Q1324H		EDC4		SNV							ENST00000358933	protein_coding	getma.org/?cm=var&var=hg19,16,67917593,G,T&fts=all		hmmpanther:PTHR15598		Q/H		T	medium	4211/4800		getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=1294&re=1401&var=Q1324H	deleterious(0)				YES	EDC4,missense_variant,p.Gln1324His,ENST00000358933,NM_014329.4;EDC4,missense_variant,p.Gln107His,ENST00000575033,;EDC4,missense_variant,p.Gln77His,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,,ENST00000576972,;EDC4,downstream_gene_variant,,ENST00000577028,;EDC4,downstream_gene_variant,,ENST00000572031,;EDC4,downstream_gene_variant,,ENST00000575507,;EDC4,downstream_gene_variant,,ENST00000572724,;							MODERATE	3972/4206	Q1324H	EDC4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351811		CCDS10849.1			1	
ZNF808	0	LGGM	GRCh37	19	53056690	53056690	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111209	H111209N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111209N.bam, H111209T.bam	Illumina HiSeq	150	27	.	.	ENST00000359798.4:c.521G>A	p.Gly174Asp	p.G174D	ENST00000359798	NM_001039886.3	174	gGt/gAt	0	1	1	UPI000041AA80	0	NA	ENST00000359798		ENSG00000198482	33230		177	3.065		HGNC	p.G105D		ZNF808		SNV							ENST00000487863	protein_coding	getma.org/?cm=var&var=hg19,19,53056690,G,A&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF276		G/D		A	medium	701/3600		getma.org/?cm=msa&ty=f&p=ZN808_HUMAN&rb=65&re=244&var=G174D	tolerated(0.06)	C9JVX0_HUMAN,C9J871_HUMAN,C9J0J5_HUMAN,C9IZE3_HUMAN			YES	ZNF808,missense_variant,p.Gly174Asp,ENST00000359798,NM_001039886.3;ZNF808,missense_variant,p.Gly174Asp,ENST00000465448,;ZNF808,downstream_gene_variant,,ENST00000461321,;ZNF808,downstream_gene_variant,,ENST00000461779,;ZNF808,downstream_gene_variant,,ENST00000486474,;ZNF701,upstream_gene_variant,,ENST00000478039,;ZNF808,missense_variant,p.Gly105Asp,ENST00000487863,;							MODERATE	521/2712	G174D	ZN808_HUMAN			Transcript		benign(0.194)	.	ENSP00000352846		CCDS46167.1			1	
MAD2L2	0	LGGM	GRCh37	1	11736132	11736132	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	6	2	.	.	ENST00000235310.3:c.398G>T	p.Cys133Phe	p.C133F	ENST00000235310		133	tGc/tTc	0	1	1	UPI0000000DF1	0	getma.org/pdb.php?prot=MD2L2_HUMAN&from=12&to=185&var=C133F	ENST00000235310		ENSG00000116670	6764		8	2.08		HGNC	p.C133F		MAD2L2		SNV							ENST00000456915	protein_coding	getma.org/?cm=var&var=hg19,1,11736132,C,A&fts=all		Superfamily_domains:0040144,Gene3D:1go4B00,Pfam_domain:PF02301,PROSITE_profiles:PS50815,hmmpanther:PTHR11842,hmmpanther:PTHR11842:SF10		C/F		A	medium	1327/1860		getma.org/?cm=msa&ty=f&p=MD2L2_HUMAN&rb=12&re=185&var=C133F	deleterious(0)	B1AK45_HUMAN			YES	MAD2L2,missense_variant,p.Cys133Phe,ENST00000235310,;MAD2L2,missense_variant,p.Cys133Phe,ENST00000376692,NM_006341.3;MAD2L2,missense_variant,p.Cys133Phe,ENST00000456915,;MAD2L2,missense_variant,p.Cys146Phe,ENST00000376672,;MAD2L2,missense_variant,p.Cys133Phe,ENST00000376667,NM_001127325.1;MAD2L2,missense_variant,p.Cys146Phe,ENST00000376669,;MAD2L2,missense_variant,p.Cys163Phe,ENST00000445656,;FBXO6,downstream_gene_variant,,ENST00000376753,NM_018438.5;FBXO6,downstream_gene_variant,,ENST00000449067,;MAD2L2,non_coding_transcript_exon_variant,,ENST00000376664,;MAD2L2,downstream_gene_variant,,ENST00000376655,;FBXO6,downstream_gene_variant,,ENST00000474239,;							MODERATE	398/636	C133F	MD2L2_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000235310		CCDS134.1			1	
HCN3	0	LGGM	GRCh37	1	155257895	155257895	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	8	2	.	.	ENST00000368358.3:c.1966C>T	p.Pro656Ser	p.P656S	ENST00000368358	NM_020897.2	656	Ccg/Tcg	0	1	1	UPI00000559A6	0	NA	ENST00000368358		ENSG00000143630	19183		10	0.805		HGNC	p.P656S	rs748700666	HCN3		SNV							ENST00000368358	protein_coding	getma.org/?cm=var&var=hg19,1,155257895,C,T&fts=all		hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF374		P/S		T	low	1974/3718	1.93E-05	getma.org/?cm=msa&ty=f&p=HCN3_HUMAN&rb=532&re=731&var=P656S	tolerated_low_confidence(0.16)				YES	HCN3,missense_variant,p.Pro656Ser,ENST00000368358,NM_020897.2;PKLR,downstream_gene_variant,,ENST00000392414,NM_181871.3;PKLR,downstream_gene_variant,,ENST00000342741,NM_000298.5;HCN3,non_coding_transcript_exon_variant,,ENST00000496230,;HCN3,downstream_gene_variant,,ENST00000467204,;HCN3,upstream_gene_variant,,ENST00000492035,;							MODERATE	1966/2325	P656S	HCN3_HUMAN			Transcript		benign(0.001)	.	ENSP00000357342	8.25E-06	CCDS1108.1			1	
BARHL2	0	LGGM	GRCh37	1	91177977	91177977	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	5	2	.	.	ENST00000370445.4:c.1056G>T	p.Leu352=	p.L352=	ENST00000370445	NM_020063.1	352	ctG/ctT	0	1	1	UPI00001B50ED	0		ENST00000370445		ENSG00000143032	954		7			HGNC	p.L352L		BARHL2		SNV							ENST00000370445	protein_coding			hmmpanther:PTHR24330,hmmpanther:PTHR24330:SF4		L		A		1098/1979							YES	BARHL2,synonymous_variant,p.=,ENST00000370445,NM_020063.1;							LOW	1056/1164		BARH2_HUMAN			Transcript			.	ENSP00000359474		CCDS730.1			1	
PLCH1	0	LGGM	GRCh37	3	155311773	155311773	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	13	2	.	.	ENST00000340059.7:c.391A>G	p.Ser131Gly	p.S131G	ENST00000340059	NM_001130960.1	131	Agt/Ggt	0	1	1	UPI00001D800E	0	NA	ENST00000340059		ENSG00000114805	29185		15	1.43		HGNC	p.S113G		PLCH1		SNV							ENST00000414191	protein_coding	getma.org/?cm=var&var=hg19,3,155311773,T,C&fts=all		Gene3D:2.30.29.30,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF51		S/G		C	low	391/6168		getma.org/?cm=msa&ty=f&p=PLCH1_HUMAN&rb=1&re=138&var=S131G	deleterious(0)				YES	PLCH1,missense_variant,p.Ser113Gly,ENST00000460012,;PLCH1,missense_variant,p.Ser113Gly,ENST00000414191,;PLCH1,missense_variant,p.Ser131Gly,ENST00000447496,NM_001130961.1;PLCH1,missense_variant,p.Ser131Gly,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Ser113Gly,ENST00000334686,NM_014996.2;PLCH1,missense_variant,p.Ser131Gly,ENST00000494598,;							MODERATE	391/5082	S131G	PLCH1_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000345988		CCDS46939.1			1	
COL7A1	0	LGGM	GRCh37	3	48629185	48629185	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	11	2	.	.	ENST00000328333.8:c.1428G>T	p.Pro476=	p.P476=	ENST00000328333	NM_000094.3	476	ccG/ccT	0	1	1	UPI0000126D20	0		ENST00000328333		ENSG00000114270	2214		13			HGNC	p.P476P	COSM1423791	COL7A1		SNV			1			1	ENST00000328333	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265		P		A		1536/9276							YES	COL7A1,synonymous_variant,p.=,ENST00000328333,NM_000094.3;COL7A1,synonymous_variant,p.=,ENST00000454817,;					1		LOW	1428/8835		CO7A1_HUMAN			Transcript			.	ENSP00000332371		CCDS2773.1			1	
MYRF	0	LGGM	GRCh37	11	61547400	61547400	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	7	2	.	.	ENST00000278836.5:c.2334C>G	p.Phe778Leu	p.F778L	ENST00000278836	NM_001127392.1	778	ttC/ttG	0	1	1	UPI0000D45F7B	0	NA	ENST00000278836		ENSG00000124920	1181		9	1.725		HGNC	p.F769L		MYRF		SNV							ENST00000265460	protein_coding	getma.org/?cm=var&var=hg19,11,61547400,C,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13029,hmmpanther:PTHR13029:SF16		F/L		G	low	2430/5927		getma.org/?cm=msa&ty=f&p=MRF_HUMAN&rb=703&re=902&var=F778L	tolerated(0.14)				YES	MYRF,missense_variant,p.Phe778Leu,ENST00000278836,NM_001127392.1;MYRF,missense_variant,p.Phe769Leu,ENST00000265460,NM_013279.2;MYRF,missense_variant,p.Phe169Leu,ENST00000389602,;MYRF,missense_variant,p.Phe424Leu,ENST00000327797,;TMEM258,intron_variant,,ENST00000535042,;MYRF,splice_region_variant,,ENST00000537318,;MYRF,splice_region_variant,,ENST00000536352,;MYRF,upstream_gene_variant,,ENST00000539361,;MYRF,upstream_gene_variant,,ENST00000546247,;							MODERATE	2334/3456	F778L	MRF_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000278836		CCDS44622.1			1	
EPHA5	0	LGGM	GRCh37	4	66218763	66218763	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	14	2	.	.	ENST00000273854.3:c.2295G>T	p.Leu765Phe	p.L765F	ENST00000273854	NM_004439.5	765	ttG/ttT	0	1	1	UPI000013D9D9	0	getma.org/pdb.php?prot=EPHA5_HUMAN&from=675&to=932&var=L765F	ENST00000273854		ENSG00000145242	3389		16	3.725		HGNC	p.L765F		EPHA5		SNV							ENST00000273854	protein_coding	getma.org/?cm=var&var=hg19,4,66218763,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF17,hmmpanther:PTHR24416,Pfam_domain:PF07714,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000666,SMART_domains:SM00219,Superfamily_domains:SSF56112,Prints_domain:PR00109		L/F		A	high	2896/8266		getma.org/?cm=msa&ty=f&p=EPHA5_HUMAN&rb=675&re=932&var=L765F	deleterious(0)				YES	EPHA5,missense_variant,p.Leu765Phe,ENST00000273854,NM_004439.5,NM_001281765.1;EPHA5,missense_variant,p.Leu766Phe,ENST00000511294,NM_001281767.1;EPHA5,missense_variant,p.Leu602Phe,ENST00000432638,;EPHA5,missense_variant,p.Leu743Phe,ENST00000354839,NM_182472.2;							MODERATE	2295/3114	L765F	EPHA5_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000273854		CCDS3513.1			1	
DHRS13	0	LGGM	GRCh37	17	27225741	27225741	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	10	2	.	.	ENST00000378895.4:c.852C>A	p.Asn284Lys	p.N284K	ENST00000378895	NM_144683.3	284	aaC/aaA	0	1	1	UPI00001D6289	0	NA	ENST00000378895		ENSG00000167536	28326		12	1.72		HGNC	p.N234K		DHRS13		SNV							ENST00000394901	protein_coding	getma.org/?cm=var&var=hg19,17,27225741,G,T&fts=all		hmmpanther:PTHR24320:SF53,hmmpanther:PTHR24320,Superfamily_domains:SSF51735		N/K		T	low	979/1921		getma.org/?cm=msa&ty=f&p=DHR13_HUMAN&rb=181&re=320&var=N284K	tolerated(0.09)				YES	DHRS13,missense_variant,p.Asn234Lys,ENST00000394901,;DHRS13,missense_variant,p.Asn284Lys,ENST00000378895,NM_144683.3;DHRS13,missense_variant,p.Asn203Lys,ENST00000426464,;FLOT2,upstream_gene_variant,,ENST00000394906,;FLOT2,upstream_gene_variant,,ENST00000394908,NM_004475.2;FLOT2,upstream_gene_variant,,ENST00000585169,;RP11-20B24.4,non_coding_transcript_exon_variant,,ENST00000579187,;RP11-20B24.4,intron_variant,,ENST00000580603,;FLOT2,upstream_gene_variant,,ENST00000577789,;DHRS13,downstream_gene_variant,,ENST00000581974,;FLOT2,upstream_gene_variant,,ENST00000580805,;FLOT2,upstream_gene_variant,,ENST00000586827,;DHRS13,downstream_gene_variant,,ENST00000581759,;FLOT2,upstream_gene_variant,,ENST00000593158,;FLOT2,upstream_gene_variant,,ENST00000582174,;							MODERATE	852/1134	N284K	DHR13_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000368173		CCDS11246.2			1	
SPRY2	0	LGGM	GRCh37	13	80911767	80911767	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	15	2	.	.	ENST00000377102.1:c.74G>T	p.Arg25Leu	p.R25L	ENST00000377102		25	cGt/cTt	0	1	1	UPI0000001301	0	NA	ENST00000377102		ENSG00000136158	11270		17	0.975		HGNC	p.R25L		SPRY2		SNV							ENST00000377104	protein_coding	getma.org/?cm=var&var=hg19,13,80911767,C,A&fts=all		hmmpanther:PTHR12365,hmmpanther:PTHR12365:SF8		R/L		A	low	1052/2708		getma.org/?cm=msa&ty=f&p=SPY2_HUMAN&rb=1&re=182&var=R25L	tolerated(0.13)				YES	SPRY2,missense_variant,p.Arg25Leu,ENST00000377102,;SPRY2,missense_variant,p.Arg25Leu,ENST00000377104,NM_005842.2;SPRY2,missense_variant,p.Arg25Leu,ENST00000540649,;							MODERATE	74/948	R25L	SPY2_HUMAN			Transcript		benign(0)	.	ENSP00000366306		CCDS9463.1			1	
EPN3	0	LGGM	GRCh37	17	48616263	48616263	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	9	2	.	.	ENST00000268933.3:c.700C>A	p.His234Asn	p.H234N	ENST00000268933	NM_017957.2	234	Cac/Aac	0	1	1	UPI0000073234	0	NA	ENST00000268933		ENSG00000049283	18235		11	1.1		HGNC	p.H234N		EPN3		SNV							ENST00000574464	protein_coding	getma.org/?cm=var&var=hg19,17,48616263,C,A&fts=all		hmmpanther:PTHR12276,hmmpanther:PTHR12276:SF16		H/N		A	low	1279/4071		getma.org/?cm=msa&ty=f&p=EPN3_HUMAN&rb=196&re=264&var=H234N	tolerated(0.33)	D6RFG3_HUMAN,D6REL6_HUMAN,D6RBR6_HUMAN,D6RBI9_HUMAN			YES	EPN3,missense_variant,p.His234Asn,ENST00000268933,NM_017957.2;EPN3,intron_variant,,ENST00000537145,;EPN3,intron_variant,,ENST00000541226,;EPN3,downstream_gene_variant,,ENST00000507467,;EPN3,downstream_gene_variant,,ENST00000503246,;EPN3,downstream_gene_variant,,ENST00000503690,;EPN3,downstream_gene_variant,,ENST00000514874,;EPN3,downstream_gene_variant,,ENST00000515126,;EPN3,downstream_gene_variant,,ENST00000507709,;RP11-94C24.8,upstream_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,missense_variant,p.His234Asn,ENST00000574464,;EPN3,intron_variant,,ENST00000512379,;EPN3,intron_variant,,ENST00000510045,;EPN3,intron_variant,,ENST00000512291,;SPATA20,upstream_gene_variant,,ENST00000504334,;RP11-94C24.8,upstream_gene_variant,,ENST00000509260,;							MODERATE	700/1899	H234N	EPN3_HUMAN			Transcript		benign(0.048)	.	ENSP00000268933		CCDS11570.1			1	
KSR1	0	LGGM	GRCh37	17	25909972	25909972	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	1	2	.	.	ENST00000398988.3:c.410C>A	p.Thr137Lys	p.T137K	ENST00000398988	NM_014238.1	137	aCa/aAa	0	1	1	UPI00005B2F0C	0	NA	ENST00000398988		ENSG00000141068	6465		3	2.65		HGNC	p.T137K		KSR1		SNV							ENST00000583370	protein_coding	getma.org/?cm=var&var=hg19,17,25909972,C,A&fts=all		hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413		T/K		A	medium	855/7234		getma.org/?cm=msa&ty=f&p=KSR1_HUMAN&rb=167&re=366&var=T272K	deleterious(0)	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN			YES	KSR1,missense_variant,p.Thr137Lys,ENST00000398988,NM_014238.1;KSR1,missense_variant,p.Thr274Lys,ENST00000319524,;KSR1,missense_variant,p.Thr137Lys,ENST00000268763,;KSR1,missense_variant,p.Thr274Lys,ENST00000509603,;KSR1,missense_variant,p.Thr9Lys,ENST00000398982,;KSR1,missense_variant,p.Thr137Lys,ENST00000583370,;KSR1,downstream_gene_variant,,ENST00000580163,;KSR1,upstream_gene_variant,,ENST00000581975,;KSR1,downstream_gene_variant,,ENST00000582311,;KSR1,upstream_gene_variant,,ENST00000580822,;KSR1,non_coding_transcript_exon_variant,,ENST00000579399,;KSR1,downstream_gene_variant,,ENST00000398985,;KSR1,upstream_gene_variant,,ENST00000577823,;							MODERATE	410/2289	T272K				Transcript		probably_damaging(0.996)	.	ENSP00000381958		CCDS58532.1			1	
ZFHX3	0	LGGM	GRCh37	16	72923763	72923763	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	5	2	.	.	ENST00000268489.5:c.3315G>A	p.Gln1105=	p.Q1105=	ENST00000268489	NM_006885.3	1105	caG/caA	0	1	1	UPI00001AE937	0		ENST00000268489		ENSG00000140836	777		7			HGNC	p.Q1105Q		ZFHX3		SNV							ENST00000268489	protein_coding			hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208,SMART_domains:SM00355,SMART_domains:SM00451		Q		T		3988/16064				Q6TCJ2_HUMAN			YES	ZFHX3,synonymous_variant,p.=,ENST00000268489,NM_006885.3;ZFHX3,synonymous_variant,p.=,ENST00000397992,NM_001164766.1;ZFHX3,upstream_gene_variant,,ENST00000563625,;							LOW	3315/11112		ZFHX3_HUMAN			Transcript			.	ENSP00000268489		CCDS10908.1			1	
CEP70	0	LGGM	GRCh37	3	138216945	138216945	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	16	2	.	.	ENST00000264982.3:c.1660T>C	p.Tyr554His	p.Y554H	ENST00000264982	NM_024491.2	554	Tac/Cac	0	1	1	UPI000013D5A3	0	NA	ENST00000264982		ENSG00000114107	29972		18	-0.69		HGNC	p.Y27H		CEP70		SNV							ENST00000459695	protein_coding	getma.org/?cm=var&var=hg19,3,138216945,A,G&fts=all		hmmpanther:PTHR14594:SF1,hmmpanther:PTHR14594		Y/H		G	neutral	1927/2732		getma.org/?cm=msa&ty=f&p=CEP70_HUMAN&rb=340&re=595&var=Y554H	tolerated(0.54)	C9JZ04_HUMAN,C9J0F4_HUMAN			YES	CEP70,missense_variant,p.Tyr554His,ENST00000264982,NM_024491.2;CEP70,missense_variant,p.Tyr534His,ENST00000542237,;CEP70,missense_variant,p.Tyr536His,ENST00000474781,;CEP70,missense_variant,p.Tyr554His,ENST00000484888,;CEP70,missense_variant,p.Tyr402His,ENST00000489254,;CEP70,missense_variant,p.Tyr27His,ENST00000459695,;CEP70,downstream_gene_variant,,ENST00000481834,;							MODERATE	1660/1794	Y554H	CEP70_HUMAN			Transcript		benign(0)	.	ENSP00000264982		CCDS3102.1			1	
CDC27	0	LGGM	GRCh37	17	45249352	45249352	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	13	2	.	.	ENST00000531206.1:c.182T>C	p.Leu61Ser	p.L61S	ENST00000531206		61	tTg/tCg	0	1		UPI000012722D	0	NA	ENST00000066544		ENSG00000004897	1728		15	1.535		HGNC	p.L61S		CDC27		SNV							ENST00000575483	protein_coding	getma.org/?cm=var&var=hg19,17,45249352,A,G&fts=all		hmmpanther:PTHR12558:SF11,hmmpanther:PTHR12558,Pfam_domain:PF12895,Superfamily_domains:SSF48452		L/S		G	low	276/5801		getma.org/?cm=msa&ty=f&p=CDC27_HUMAN&rb=17&re=95&var=L61S	deleterious(0)	I0EZ72_HUMAN,I0EZ68_HUMAN				CDC27,missense_variant,p.Leu61Ser,ENST00000066544,NM_001256.3,NM_001114091.1;CDC27,missense_variant,p.Leu61Ser,ENST00000531206,;CDC27,missense_variant,p.Leu61Ser,ENST00000527547,;CDC27,missense_variant,p.Leu61Ser,ENST00000575483,;CDC27,intron_variant,,ENST00000446365,;RP5-867C24.5,downstream_gene_variant,,ENST00000572193,;CDC27,non_coding_transcript_exon_variant,,ENST00000528748,;CDC27,non_coding_transcript_exon_variant,,ENST00000532575,;CDC27,missense_variant,p.Leu61Ser,ENST00000526866,;CDC27,missense_variant,p.Leu21Ser,ENST00000570818,;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,;CDC27,intron_variant,,ENST00000533415,;CDC27,intron_variant,,ENST00000573550,;CDC27,intron_variant,,ENST00000532893,;CDC27,upstream_gene_variant,,ENST00000574304,;							MODERATE	182/2475	L61S	CDC27_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000066544		CCDS11509.1			1	
TTC40	0	LGGM	GRCh37	10	134755606	134755606	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	7	2	.	.	ENST00000368586.5:c.52G>T	p.Ala18Ser	p.A18S	ENST00000368586	NM_001200049.2	18	Gct/Tct	0	1	1	UPI0001B79116	0		ENST00000368586		ENSG00000171811	25247		9			HGNC	p.A18S		TTC40		SNV							ENST00000368586	protein_coding			hmmpanther:PTHR15977:SF13,hmmpanther:PTHR15977		A/S		A		153/8278			tolerated(0.19)				YES	TTC40,missense_variant,p.Ala18Ser,ENST00000368586,NM_001200049.2;TTC40,missense_variant,p.Ala18Ser,ENST00000368582,;TTC40,missense_variant,p.Ala18Ser,ENST00000368585,;LINC01166,downstream_gene_variant,,ENST00000443633,;TTC40,splice_region_variant,,ENST00000475340,;							MODERATE	52/8148		TTC40_HUMAN			Transcript		benign(0.236)	.	ENSP00000357575		CCDS58101.1			1	
RHAG	0	LGGM	GRCh37	6	49580248	49580248	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	20	3	.	.	ENST00000371175.4:c.808-1G>T		p.X270_splice	ENST00000371175	NM_000324.2			0	1	1	UPI000006D18F	0		ENST00000371175		ENSG00000112077	10006		23			HGNC	-		RHAG		SNV			1				ENST00000371175	protein_coding							A		-/1912				Q9UL98_HUMAN,Q9UK69_HUMAN,Q9UHG8_HUMAN,Q9UBB8_HUMAN			YES	RHAG,splice_acceptor_variant,,ENST00000371175,NM_000324.2;RHAG,splice_acceptor_variant,,ENST00000229810,;							HIGH	808/1230		RHAG_HUMAN			Transcript			.	ENSP00000360217		CCDS4927.1			1	
CASS4	0	LGGM	GRCh37	20	55012513	55012513	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	46	3	.	.	ENST00000371336.3:c.330C>A	p.Gly110=	p.G110=	ENST00000371336	NM_001164114.1	110	ggC/ggA	0	1		UPI00001285DB	0		ENST00000360314		ENSG00000087589	15878		49			HGNC	p.G110G		CASS4		SNV							ENST00000434344	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10654:SF12,hmmpanther:PTHR10654		G		A		555/2619								CASS4,synonymous_variant,p.=,ENST00000371336,NM_001164114.1,NM_020356.3;CASS4,synonymous_variant,p.=,ENST00000360314,NM_001164116.1;CASS4,synonymous_variant,p.=,ENST00000434344,NM_001164115.1;CASS4,non_coding_transcript_exon_variant,,ENST00000497244,;							LOW	330/2361		CASS4_HUMAN			Transcript			.	ENSP00000353462		CCDS33492.1			1	
PCMTD2	0	LGGM	GRCh37	20	62896624	62896624	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	43	3	.	.	ENST00000308824.6:c.424G>A	p.Glu142Lys	p.E142K	ENST00000308824	NM_018257.2	142	Gaa/Aaa	0	1	1	UPI0000049C88	0	getma.org/pdb.php?prot=PCMD2_HUMAN&from=9&to=223&var=E142K	ENST00000308824		ENSG00000203880	15882		46	2.075		HGNC	p.E142K		PCMTD2		SNV							ENST00000369758	protein_coding	getma.org/?cm=var&var=hg19,20,62896624,G,A&fts=all		hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF2,Pfam_domain:PF01135,Gene3D:3.40.50.150,Superfamily_domains:SSF53335		E/K		A	medium	551/3843		getma.org/?cm=msa&ty=f&p=PCMD2_HUMAN&rb=9&re=223&var=E142K	deleterious(0)				YES	PCMTD2,missense_variant,p.Glu142Lys,ENST00000308824,NM_018257.2;PCMTD2,missense_variant,p.Glu142Lys,ENST00000369758,NM_001104925.1;PCMTD2,missense_variant,p.Glu142Lys,ENST00000299468,;PCMTD2,intron_variant,,ENST00000609372,;PCMTD2,downstream_gene_variant,,ENST00000609764,;PCMTD2,upstream_gene_variant,,ENST00000609818,;PCMTD2,downstream_gene_variant,,ENST00000610074,;PCMTD2,downstream_gene_variant,,ENST00000608844,;							MODERATE	424/1086	E142K	PCMD2_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000307854		CCDS13559.1			1	
TNRC6A	0	LGGM	GRCh37	16	24817970	24817970	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	42	3	.	.	ENST00000395799.3:c.4405C>A	p.Gln1469Lys	p.Q1469K	ENST00000395799	NM_014494.2	1469	Cag/Aag	0	1	1	UPI000059D33E	0	NA	ENST00000395799		ENSG00000090905	11969		45	1.935		HGNC	p.Q413K		TNRC6A		SNV							ENST00000450465	protein_coding	getma.org/?cm=var&var=hg19,16,24817970,C,A&fts=all		hmmpanther:PTHR13020,hmmpanther:PTHR13020:SF28		Q/K		A	medium	4534/8438		getma.org/?cm=msa&ty=f&p=TNR6A_HUMAN&rb=1404&re=1603&var=Q1469K	tolerated(0.1)	G8JLL8_HUMAN			YES	TNRC6A,missense_variant,p.Gln1469Lys,ENST00000395799,NM_014494.2;TNRC6A,missense_variant,p.Gln1420Lys,ENST00000315183,;TNRC6A,missense_variant,p.Gln413Lys,ENST00000450465,;TNRC6A,missense_variant,p.Gln169Lys,ENST00000568750,;TNRC6A,upstream_gene_variant,,ENST00000432286,;CTD-2515A14.1,intron_variant,,ENST00000568895,;TNRC6A,3_prime_UTR_variant,,ENST00000491718,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000477487,;TNRC6A,non_coding_transcript_exon_variant,,ENST00000462400,;TNRC6A,upstream_gene_variant,,ENST00000569376,;TNRC6A,downstream_gene_variant,,ENST00000561726,;TNRC6A,upstream_gene_variant,,ENST00000563201,;							MODERATE	4405/5889	Q1469K	TNR6A_HUMAN			Transcript		benign(0.103)	.	ENSP00000379144		CCDS10624.2			1	
ZNF804B	0	LGGM	GRCh37	7	88964660	88964660	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	31	3	.	.	ENST00000333190.4:c.2364G>A	p.Trp788Ter	p.W788*	ENST00000333190	NM_181646.2	788	tgG/tgA	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		34	0		HGNC	p.W788X		ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88964660,G,A&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		W/*		A	NA	2973/4659		NA					YES	ZNF804B,stop_gained,p.Trp788Ter,ENST00000333190,NM_181646.2;							HIGH	2364/4050	W788*	Z804B_HUMAN			Transcript			.	ENSP00000329638		CCDS5613.1			1	
PPP1R16B	0	LGGM	GRCh37	20	37529258	37529258	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	27	3	.	.	ENST00000299824.1:c.502A>G	p.Asn168Asp	p.N168D	ENST00000299824	NM_015568.2	168	Aac/Gac	0	1	1	UPI0000132059	0	NA	ENST00000299824		ENSG00000101445	15850		30	2.235		HGNC	p.N168D		PPP1R16B		SNV							ENST00000373331	protein_coding	getma.org/?cm=var&var=hg19,20,37529258,A,G&fts=all		Gene3D:1.25.40.20,PIRSF_domain:PIRSF038159,PROSITE_profiles:PS50297,hmmpanther:PTHR24186,Superfamily_domains:SSF48403		N/D		G	medium	691/6251		getma.org/?cm=msa&ty=f&p=PP16B_HUMAN&rb=167&re=227&var=N168D	deleterious(0)				YES	PPP1R16B,missense_variant,p.Asn168Asp,ENST00000299824,NM_015568.2;PPP1R16B,missense_variant,p.Asn168Asp,ENST00000373331,NM_001172735.1;PPP1R16B,downstream_gene_variant,,ENST00000468265,;PPP1R16B,downstream_gene_variant,,ENST00000463749,;							MODERATE	502/1704	N168D	PP16B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000299824		CCDS13309.1			1	
FMNL3	0	LGGM	GRCh37	12	50052242	50052242	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	13	3	.	.	ENST00000335154.5:c.588G>A	p.Ala196=	p.A196=	ENST00000335154	NM_175736.4	196	gcG/gcA	0	1	1	UPI00001FC1CB	0		ENST00000335154		ENSG00000161791	23698		16			HGNC	p.A196A	rs749638078	FMNL3		SNV							ENST00000550488	protein_coding			PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF29		A		T		822/11192	1.54E-05						YES	FMNL3,synonymous_variant,p.=,ENST00000335154,NM_175736.4;FMNL3,synonymous_variant,p.=,ENST00000550488,;FMNL3,synonymous_variant,p.=,ENST00000293590,;FMNL3,intron_variant,,ENST00000352151,NM_198900.2;FMNL3,downstream_gene_variant,,ENST00000550970,;							LOW	588/3084		FMNL3_HUMAN			Transcript			.	ENSP00000335655	8.25E-06	CCDS44874.1			1	
PTPN12	0	LGGM	GRCh37	7	77236558	77236558	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	45	3	.	.	ENST00000248594.6:c.702C>A	p.Gly234=	p.G234=	ENST00000248594	NM_002835.3	234	ggC/ggA	0	1	1	UPI000013CC4C	0		ENST00000248594		ENSG00000127947	9645		48			HGNC	p.G115G		PTPN12		SNV							ENST00000415482	protein_coding			Prints_domain:PR00700,Superfamily_domains:SSF52799,PIRSF_domain:PIRSF000932,SMART_domains:SM00194,SMART_domains:SM00404,Gene3D:3.90.190.10,Pfam_domain:PF00102,PROSITE_patterns:PS00383,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF33,PROSITE_profiles:PS50056,PROSITE_profiles:PS50055		G		A		974/3406				F8WB51_HUMAN,E9PBR5_HUMAN,C9JJC1_HUMAN,C9J1X8_HUMAN,A4D1C5_HUMAN			YES	PTPN12,synonymous_variant,p.=,ENST00000248594,NM_002835.3;PTPN12,synonymous_variant,p.=,ENST00000435495,NM_001131009.1;PTPN12,synonymous_variant,p.=,ENST00000415482,NM_001131008.1;PTPN12,synonymous_variant,p.=,ENST00000522115,;PTPN12,3_prime_UTR_variant,,ENST00000447995,;PTPN12,non_coding_transcript_exon_variant,,ENST00000464313,;							LOW	702/2343		PTN12_HUMAN			Transcript			.	ENSP00000248594		CCDS5592.1			1	
FOXRED1	0	LGGM	GRCh37	11	126139156	126139156	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	5	3	.	.	ENST00000263578.5:c.55C>T	p.Pro19Ser	p.P19S	ENST00000263578	NM_017547.3	19	Cca/Tca	0	1	1	UPI0000037C04	0	NA	ENST00000263578		ENSG00000110074	26927		8	0.69		HGNC	p.P19S	rs79210019	FOXRED1		SNV			1				ENST00000525770	protein_coding	getma.org/?cm=var&var=hg19,11,126139156,C,T&fts=all	A:0	Low_complexity_(Seg):seg		P/S		T	neutral	129/1970	1.52E-05	getma.org/?cm=msa&ty=f&p=FXRD1_HUMAN&rb=1&re=64&var=P19S	tolerated_low_confidence(0.26)	B4DXM1_HUMAN,B4DQI0_HUMAN	A:0	A:0.003	YES	FOXRED1,missense_variant,p.Pro19Ser,ENST00000263578,NM_017547.3;FOXRED1,5_prime_UTR_variant,,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,,ENST00000533839,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000526366,;SRPR,upstream_gene_variant,,ENST00000530680,;FOXRED1,missense_variant,p.Pro19Ser,ENST00000527004,;FOXRED1,missense_variant,p.Pro19Ser,ENST00000525770,;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,,ENST00000526525,;FOXRED1,non_coding_transcript_exon_variant,,ENST00000529802,;FOXRED1,upstream_gene_variant,,ENST00000530642,;FOXRED1,upstream_gene_variant,,ENST00000534315,;SRPR,upstream_gene_variant,,ENST00000528744,;SRPR,upstream_gene_variant,,ENST00000532268,;FOXRED1,upstream_gene_variant,,ENST00000531257,;FOXRED1,upstream_gene_variant,,ENST00000533395,;SRPR,upstream_gene_variant,,ENST00000527817,;FOXRED1,upstream_gene_variant,,ENST00000527875,;SRPR,upstream_gene_variant,,ENST00000531104,;		A:0.0006					MODERATE	55/1461	P19S	FXRD1_HUMAN		A:0	Transcript		benign(0.109)	.	ENSP00000263578	8.24E-06	CCDS8471.1		A:0	1	
CSRNP3	0	LGGM	GRCh37	2	166535947	166535947	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	27	3	.	.	ENST00000314499.7:c.1442C>T	p.Ala481Val	p.A481V	ENST00000314499	NM_001172173.1	481	gCc/gTc	0	1	1	UPI0000136882	0	NA	ENST00000314499		ENSG00000178662	30729		30	0.55		HGNC	p.A481V	COSM3406988	CSRNP3		SNV						1	ENST00000342316	protein_coding	getma.org/?cm=var&var=hg19,2,166535947,C,T&fts=all		hmmpanther:PTHR13580:SF13,hmmpanther:PTHR13580		A/V		T	neutral	1818/11788		getma.org/?cm=msa&ty=f&p=CSRN3_HUMAN&rb=291&re=583&var=A481V	tolerated_low_confidence(0.07)	E7EN18_HUMAN,B8ZZD9_HUMAN			YES	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,;					1		MODERATE	1442/1758	A481V	CSRN3_HUMAN			Transcript		benign(0.079)	.	ENSP00000318258		CCDS2225.1			1	
PTCD3	0	LGGM	GRCh37	2	86335497	86335497	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	45	3	.	.	ENST00000254630.7:c.129C>G	p.Leu43=	p.L43=	ENST00000254630	NM_017952.5	43	ctC/ctG	0	1	1	UPI0000208870	0		ENST00000254630		ENSG00000132300	24717		48			HGNC	p.S71C		PTCD3		SNV							ENST00000409326	protein_coding			hmmpanther:PTHR16276,hmmpanther:PTHR16276:SF0		L		G		195/6734							YES	PTCD3,synonymous_variant,p.=,ENST00000254630,NM_017952.5;PTCD3,synonymous_variant,p.=,ENST00000409277,;PTCD3,synonymous_variant,p.=,ENST00000409783,;POLR1A,upstream_gene_variant,,ENST00000263857,;POLR1A,upstream_gene_variant,,ENST00000409681,NM_015425.3;PTCD3,non_coding_transcript_exon_variant,,ENST00000465560,;PTCD3,non_coding_transcript_exon_variant,,ENST00000488801,;PTCD3,missense_variant,p.Ser71Cys,ENST00000409326,;PTCD3,synonymous_variant,p.=,ENST00000418628,;PTCD3,non_coding_transcript_exon_variant,,ENST00000473829,;PTCD3,non_coding_transcript_exon_variant,,ENST00000483925,;POLR1A,upstream_gene_variant,,ENST00000486964,;POLR1A,upstream_gene_variant,,ENST00000424089,;POLR1A,upstream_gene_variant,,ENST00000409024,;							LOW	129/2070		PTCD3_HUMAN			Transcript			.	ENSP00000254630		CCDS33235.1			1	
TEAD3	0	LGGM	GRCh37	6	35443381	35443381	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	29	3	.	.	ENST00000338863.7:c.1003G>T	p.Val335Leu	p.V335L	ENST00000338863	NM_003214.3	335	Gtg/Ttg	0	1	1	UPI000015C249	0	getma.org/pdb.php?prot=TEAD3_HUMAN&from=3&to=427&var=V335L	ENST00000338863		ENSG00000007866	11716		32	3.575		HGNC	p.V335L		TEAD3		SNV							ENST00000338863	protein_coding	getma.org/?cm=var&var=hg19,6,35443381,C,A&fts=all		hmmpanther:PTHR11834,hmmpanther:PTHR11834:SF1,Pfam_domain:PF01285,PIRSF_domain:PIRSF002603,PIRSF_domain:PIRSF500720		V/L		A	high	1231/2983		getma.org/?cm=msa&ty=f&p=TEAD3_HUMAN&rb=3&re=427&var=V335L	tolerated(0.05)				YES	TEAD3,missense_variant,p.Val335Leu,ENST00000338863,NM_003214.3;TEAD3,missense_variant,p.Val275Leu,ENST00000402886,;RPL10A,downstream_gene_variant,,ENST00000322203,NM_007104.4;TEAD3,downstream_gene_variant,,ENST00000433586,;RPL10A,downstream_gene_variant,,ENST00000467020,;RPL10A,downstream_gene_variant,,ENST00000464112,;RPL10A,downstream_gene_variant,,ENST00000478340,;RPL10A,downstream_gene_variant,,ENST00000490335,;							MODERATE	1003/1308	V335L	TEAD3_HUMAN			Transcript		benign(0.314)	.	ENSP00000345772		CCDS47414.1			1	
EPG5	0	LGGM	GRCh37	18	43528536	43528536	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	33	3	.	.	ENST00000282041.5:c.1504G>A	p.Val502Met	p.V502M	ENST00000282041	NM_020964.2	502	Gtg/Atg	0	1	1	UPI00004F6F8A	0	NA	ENST00000282041		ENSG00000152223	29331		36	2.005		HGNC	p.V502M		EPG5		SNV			1				ENST00000282041	protein_coding	getma.org/?cm=var&var=hg19,18,43528536,C,T&fts=all		hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		V/M		T	medium	1539/12633		getma.org/?cm=msa&ty=f&p=EPG5_HUMAN&rb=219&re=2577&var=V502M	tolerated(0.07)	Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,missense_variant,p.Val502Met,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,;							MODERATE	1504/7740	V502M	EPG5_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000282041		CCDS11926.2			1	
PCMTD1	0	LGGM	GRCh37	8	52732965	52732965	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	37	3	.	.	ENST00000360540.5:c.1020G>A	p.Lys340=	p.K340=	ENST00000360540	NM_052937.3	340	aaG/aaA	0	1	1	UPI0000047CC0	0		ENST00000360540		ENSG00000168300	30483		40			HGNC	p.K264K		PCMTD1		SNV							ENST00000544451	protein_coding			hmmpanther:PTHR11579,hmmpanther:PTHR11579:SF4		K		T		1427/4252							YES	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,;							LOW	1020/1074		PCMD1_HUMAN			Transcript			.	ENSP00000353739		CCDS6148.1			1	
LIMCH1	0	LGGM	GRCh37	4	41668604	41668604	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	37	3	.	.	ENST00000313860.7:c.2163C>T	p.Pro721=	p.P721=	ENST00000313860	NM_014988.2	721	ccC/ccT	0	1	1	UPI0000D61554	0		ENST00000313860		ENSG00000064042	29191		40			HGNC	p.P555P	rs769085667	LIMCH1	6.07E-05	SNV				9.62E-05			ENST00000381753	protein_coding			hmmpanther:PTHR15551,hmmpanther:PTHR15551:SF3		P		T		2217/6165	1.50E-05			D6RJ93_HUMAN,D6RGH8_HUMAN,D6R8Y0_HUMAN			YES	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.=,ENST00000514096,;LIMCH1,synonymous_variant,p.=,ENST00000509277,;LIMCH1,synonymous_variant,p.=,ENST00000511496,;LIMCH1,synonymous_variant,p.=,ENST00000508466,;LIMCH1,intron_variant,,ENST00000512632,;							LOW	2163/3252		LIMC1_HUMAN			Transcript			.	ENSP00000316891	2.47E-05	CCDS33977.1			1	
SLC8A2	0	LGGM	GRCh37	19	47969518	47969518	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	12	3	.	.	ENST00000236877.6:c.143G>A	p.Arg48His	p.R48H	ENST00000236877	NM_015063.2	48	cGc/cAc	0	1	1	UPI000012FC49	0	NA	ENST00000236877		ENSG00000118160	11069		15	0.695		HGNC	p.R48H	rs576570591	SLC8A2		SNV							ENST00000236877	protein_coding	getma.org/?cm=var&var=hg19,19,47969518,C,T&fts=all	T:0	hmmpanther:PTHR11878,TIGRFAM_domain:TIGR00845		R/H		T	neutral	539/5234		getma.org/?cm=msa&ty=f&p=NAC2_HUMAN&rb=1&re=83&var=R48H	tolerated(0.1)	M0R211_HUMAN,M0R1Z4_HUMAN,F5H6L7_HUMAN,F5GYS4_HUMAN	T:0	T:0	YES	SLC8A2,missense_variant,p.Arg48His,ENST00000236877,NM_015063.2;SLC8A2,intron_variant,,ENST00000542837,;SLC8A2,intron_variant,,ENST00000539381,;SLC8A2,intron_variant,,ENST00000594353,;SLC8A2,intron_variant,,ENST00000597014,;		T:0.0002					MODERATE	143/2766	R48H	NAC2_HUMAN		T:0	Transcript		benign(0.2)	.	ENSP00000236877	8.31E-06	CCDS33065.1		T:0.001	1	
ANKRD32	0	LGGM	GRCh37	5	94027941	94027941	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	31	3	.	.	ENST00000265140.5:c.2675A>T	p.Lys892Met	p.K892M	ENST00000265140	NM_032290.3	892	aAg/aTg	0	1	1	UPI000066D9F9	0	getma.org/pdb.php?prot=ANR32_HUMAN&from=845&to=931&var=K892M	ENST00000265140		ENSG00000133302	25408		34	2.165		HGNC	p.K892M		ANKRD32		SNV							ENST00000265140	protein_coding	getma.org/?cm=var&var=hg19,5,94027941,A,T&fts=all		Superfamily_domains:SSF48403,SMART_domains:SM00248,Pfam_domain:PF00023,Gene3D:1.25.40.20,hmmpanther:PTHR13561,hmmpanther:PTHR13561:SF22,PROSITE_profiles:PS50297,PROSITE_profiles:PS50088		K/M		T	medium	3094/5905		getma.org/?cm=msa&ty=f&p=ANR32_HUMAN&rb=845&re=931&var=K892M	deleterious(0)	I6L9F1_HUMAN,D6RED9_HUMAN			YES	ANKRD32,missense_variant,p.Lys892Met,ENST00000265140,NM_032290.3;ANKRD32,non_coding_transcript_exon_variant,,ENST00000493934,;ANKRD32,non_coding_transcript_exon_variant,,ENST00000450932,;ANKRD32,downstream_gene_variant,,ENST00000475916,;							MODERATE	2675/3177	K892M	ANR32_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000265140		CCDS4071.2			1	
SVEP1	0	LGGM	GRCh37	9	113173903	113173903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	34	3	.	.	ENST00000401783.2:c.6088G>A	p.Ala2030Thr	p.A2030T	ENST00000401783	NM_153366.3	2030	Gcc/Acc	0	1		UPI0000458920	0	NA	ENST00000374469		ENSG00000165124	15985		37	2.08		HGNC	p.A2030T	rs369665876	SVEP1		SNV	T:0						ENST00000401783	protein_coding	getma.org/?cm=var&var=hg19,9,113173903,C,T&fts=all		Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF43,SMART_domains:SM00032,Superfamily_domains:SSF57535		A/T	T:0.0001	T	medium	6283/12194	1.74E-05	getma.org/?cm=msa&ty=f&p=SVEP1_HUMAN&rb=2021&re=2078&var=A2030T	deleterious(0)					SVEP1,missense_variant,p.Ala2030Thr,ENST00000401783,NM_153366.3;SVEP1,missense_variant,p.Ala2007Thr,ENST00000374469,;SVEP1,5_prime_UTR_variant,,ENST00000297826,;	0.000136						MODERATE	6019/10647	A2030T				Transcript		probably_damaging(1)	.	ENSP00000363593	1.65E-05				1	
POLR2A	0	LGGM	GRCh37	17	7415180	7415180	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	37	3	.	.	ENST00000322644.6:c.4152C>T	p.His1384=	p.H1384=	ENST00000322644	NM_000937.4	1384	caC/caT	0	1	1	UPI0000140EB9	0		ENST00000322644		ENSG00000181222	9187		40			HGNC	p.H1384H	rs530215924	POLR2A	0.00266	SNV							ENST00000322644	protein_coding		T:0	Pfam_domain:PF04998,hmmpanther:PTHR19376,hmmpanther:PTHR19376:SF33,Superfamily_domains:SSF64484		H		T		4551/6749					T:0	T:0	YES	POLR2A,synonymous_variant,p.=,ENST00000322644,NM_000937.4;POLR2A,non_coding_transcript_exon_variant,,ENST00000576553,;POLR2A,downstream_gene_variant,,ENST00000573603,;		T:0.0012					LOW	4152/5913		RPB1_HUMAN		T:0	Transcript			common_variant	ENSP00000314949	0.000362	CCDS32548.1		T:0.0061	1	
CDHR2	0	LGGM	GRCh37	5	176008528	176008528	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	14	3	.	.	ENST00000510636.1:c.2003C>T	p.Ser668Phe	p.S668F	ENST00000510636	NM_001171976.1	668	tCt/tTt	0	1		UPI0000DBEE8C	0	NA	ENST00000261944		ENSG00000074276	18231		17	1.56		HGNC	p.S668F		CDHR2		SNV							ENST00000261944	protein_coding	getma.org/?cm=var&var=hg19,5,176008528,C,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF286,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		S/F		T	low	2042/4068		getma.org/?cm=msa&ty=f&p=CDHR2_HUMAN&rb=590&re=686&var=S668F	tolerated(0.44)					CDHR2,missense_variant,p.Ser668Phe,ENST00000510636,NM_001171976.1;CDHR2,missense_variant,p.Ser668Phe,ENST00000261944,NM_017675.4;CDHR2,missense_variant,p.Ser668Phe,ENST00000506348,;							MODERATE	2003/3933	S668F	CDHR2_HUMAN			Transcript		benign(0.156)	.	ENSP00000261944		CCDS34297.1			1	
DNMT3A	0	LGGM	GRCh37	2	25457215	25457215	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	31	3	.	.	ENST00000264709.3:c.2672G>A	p.Arg891Gln	p.R891Q	ENST00000264709	NM_175629.2	891	cGg/cAg	0	1	1	UPI000000DA70	0	getma.org/pdb.php?prot=DNM3A_HUMAN&from=777&to=912&var=R891Q	ENST00000264709		ENSG00000119772	2978		34	1.67		HGNC	p.R891Q		DNMT3A		SNV			1				ENST00000264709	protein_coding	getma.org/?cm=var&var=hg19,2,25457215,C,T&fts=all		PROSITE_profiles:PS51679,hmmpanther:PTHR23068:SF10,hmmpanther:PTHR23068,Superfamily_domains:SSF53335		R/Q		T	low	3010/4380		getma.org/?cm=msa&ty=f&p=DNM3A_HUMAN&rb=777&re=912&var=R891Q	deleterious(0.01)	Q8WVA9_HUMAN,Q6PJ37_HUMAN			YES	DNMT3A,missense_variant,p.Arg891Gln,ENST00000264709,NM_175629.2;DNMT3A,missense_variant,p.Arg891Gln,ENST00000321117,NM_022552.4;DNMT3A,missense_variant,p.Arg702Gln,ENST00000380746,NM_153759.3;DNMT3A,missense_variant,p.Arg668Gln,ENST00000402667,;DNMT3A,downstream_gene_variant,,ENST00000474887,;DNMT3A,downstream_gene_variant,,ENST00000461228,;DNMT3A,downstream_gene_variant,,ENST00000482935,;DNMT3A,downstream_gene_variant,,ENST00000491288,;DNMT3A,3_prime_UTR_variant,,ENST00000380756,;DNMT3A,downstream_gene_variant,,ENST00000466601,;							MODERATE	2672/2739	R891Q	DNM3A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000264709		CCDS33157.1			1	
TRAK1	0	LGGM	GRCh37	3	42264972	42264972	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	17	3	.	.	ENST00000327628.5:c.2605G>T	p.Glu869Ter	p.E869*	ENST00000327628	NM_001042646.2	869	Gag/Tag	0	1	1	UPI0000139F52	0	NA	ENST00000327628		ENSG00000182606	29947		20	0		HGNC	p.E811X		TRAK1		SNV							ENST00000396175	protein_coding	getma.org/?cm=var&var=hg19,3,42264972,G,T&fts=all		hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF11		E/*		T	NA	3005/5293		NA					YES	TRAK1,stop_gained,p.Glu869Ter,ENST00000327628,NM_001042646.2;TRAK1,stop_gained,p.Glu811Ter,ENST00000396175,;RNU4-78P,downstream_gene_variant,,ENST00000410940,;TRAK1,non_coding_transcript_exon_variant,,ENST00000487159,;							HIGH	2605/2862	E869*	TRAK1_HUMAN			Transcript			.	ENSP00000328998		CCDS43072.1			1	
ARID1B	0	LGGM	GRCh37	6	157507678	157507678	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	11	3	.	.	ENST00000346085.5:c.3550+2109C>A		*1184*	ENST00000346085	NM_020732.3			0	1		UPI000058E2EA	0		ENST00000350026		ENSG00000049618	18040		14			HGNC	p.P709Q		ARID1B		SNV			1				ENST00000319584	protein_coding							A		-/7971								ARID1B,missense_variant,p.Pro709Gln,ENST00000319584,;ARID1B,3_prime_UTR_variant,,ENST00000400790,;ARID1B,intron_variant,,ENST00000346085,NM_020732.3;ARID1B,intron_variant,,ENST00000367148,;ARID1B,intron_variant,,ENST00000275248,;ARID1B,intron_variant,,ENST00000350026,NM_017519.2;ARID1B,intron_variant,,ENST00000414678,;							MODIFIER	-/6711		ARI1B_HUMAN			Transcript			.	ENSP00000055163		CCDS5251.2			1	
LRFN1	0	LGGM	GRCh37	19	39798882	39798882	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	8	3	.	.	ENST00000248668.4:c.1707C>T	p.Arg569=	p.R569=	ENST00000248668	NM_020862.1	569	cgC/cgT	0	1	1	UPI00001A5C55	0		ENST00000248668		ENSG00000128011	29290		11			HGNC	p.R569R		LRFN1		SNV							ENST00000248668	protein_coding			hmmpanther:PTHR24373:SF34,hmmpanther:PTHR24373		R		A		1707/3381							YES	LRFN1,synonymous_variant,p.=,ENST00000248668,NM_020862.1;							LOW	1707/2316		LRFN1_HUMAN			Transcript			.	ENSP00000248668		CCDS46071.1			1	
SCN2A	0	LGGM	GRCh37	2	166179978	166179978	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	22	4	.	.	ENST00000357398.3:c.1984A>G	p.Thr662Ala	p.T662A	ENST00000357398		662	Acc/Gcc	0	1		UPI00001279C9	0	NA	ENST00000283256		ENSG00000136531	10588		26	-0.115		HGNC	p.T662A		SCN2A		SNV			1				ENST00000283256	protein_coding	getma.org/?cm=var&var=hg19,2,166179978,A,G&fts=all		Pfam_domain:PF11933,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133		T/A		G	neutral	2140/8403		getma.org/?cm=msa&ty=f&p=SCN2A_HUMAN&rb=488&re=710&var=T662A	tolerated(1)	F8T7W7_HUMAN,A8K0U1_HUMAN				SCN2A,missense_variant,p.Thr662Ala,ENST00000375437,NM_001040142.1;SCN2A,missense_variant,p.Thr662Ala,ENST00000357398,;SCN2A,missense_variant,p.Thr662Ala,ENST00000283256,NM_021007.2;SCN2A,missense_variant,p.Thr662Ala,ENST00000375427,NM_001040143.1;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,;							MODERATE	1984/6018	T662A	SCN2A_HUMAN			Transcript		benign(0.001)	.	ENSP00000283256		CCDS33314.1			1	
DRD5	0	LGGM	GRCh37	4	9784420	9784420	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	29	4	.	.	ENST00000304374.2:c.767T>A	p.Ile256Asn	p.I256N	ENST00000304374	NM_000798.4	256	aTc/aAc	0	1	1	UPI000004E905	0	getma.org/pdb.php?prot=DRD5_HUMAN&from=57&to=359&var=I256N	ENST00000304374		ENSG00000169676	3026		33	2.645		HGNC	p.I256N		DRD5		SNV			1				ENST00000304374	protein_coding	getma.org/?cm=var&var=hg19,4,9784420,T,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF218,Superfamily_domains:SSF81321		I/N		A	medium	1163/2375		getma.org/?cm=msa&ty=f&p=DRD5_HUMAN&rb=57&re=359&var=I256N	deleterious(0)				YES	DRD5,missense_variant,p.Ile256Asn,ENST00000304374,NM_000798.4;SLC2A9,intron_variant,,ENST00000503803,;SLC2A9,intron_variant,,ENST00000508585,;							MODERATE	767/1434	I256N	DRD5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000306129		CCDS3405.1			1	
LRP2	0	LGGM	GRCh37	2	170094651	170094651	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	33	4	.	.	ENST00000263816.3:c.4456A>G	p.Thr1486Ala	p.T1486A	ENST00000263816	NM_004525.2	1486	Act/Gct	0	1	1	UPI0000141BA5	0	getma.org/pdb.php?prot=LRP2_HUMAN&from=1429&to=1520&var=T1486A	ENST00000263816		ENSG00000081479	6694		37	1.085		HGNC	p.T1486A		LRP2		SNV			1				ENST00000263816	protein_coding	getma.org/?cm=var&var=hg19,2,170094651,T,C&fts=all		PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,SMART_domains:SM00135,Superfamily_domains:SSF63825		T/A		C	low	4742/15808		getma.org/?cm=msa&ty=f&p=LRP2_HUMAN&rb=1429&re=1520&var=T1486A		Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,missense_variant,p.Thr1486Ala,ENST00000263816,NM_004525.2;LRP2,downstream_gene_variant,,ENST00000443831,;							MODERATE	4456/13968	T1486A	LRP2_HUMAN			Transcript		benign(0.003)	.	ENSP00000263816		CCDS2232.1			1	
MUC5AC	0	LGGM	GRCh37	11	1159382	1159382	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	25	4	.	.	ENST00000534821.1:c.1359C>T	p.His453=	p.H453=	ENST00000534821		453	caC/caT	0	1	1	UPI0000456454	0		ENST00000534821		ENSG00000215182	7515		29			HGNC	p.H450H	rs761934256	MUC5AC	6.15E-05	SNV							ENST00000356191	protein_coding			PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF248,Pfam_domain:PF00094,SMART_domains:SM00215,SMART_domains:SM00216		H		T		1406/1917				Q7LDT3_HUMAN,E9PJ98_HUMAN			YES	MUC5AC,synonymous_variant,p.=,ENST00000534821,;MUC5AC,synonymous_variant,p.=,ENST00000356191,;							LOW	1359/1870					Transcript			.	ENSP00000435591	8.56E-06				1	
ATN1	0	LGGM	GRCh37	12	7046331	7046331	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	17	4	.	.	ENST00000356654.4:c.1901C>T	p.Pro634Leu	p.P634L	ENST00000356654	NM_001007026.1	634	cCt/cTt	0	1	1	UPI000006F554	0	NA	ENST00000356654		ENSG00000111676	3033		21	1.525		HGNC	p.P634L		ATN1		SNV			1				ENST00000356654	protein_coding	getma.org/?cm=var&var=hg19,12,7046331,C,T&fts=all		Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9,Low_complexity_(Seg):seg		P/L		T	low	2138/4351		getma.org/?cm=msa&ty=f&p=ATN1_HUMAN&rb=349&re=1190&var=P634L		Q86V38_HUMAN			YES	ATN1,missense_variant,p.Pro634Leu,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Pro634Leu,ENST00000396684,NM_001940.3;ATN1,upstream_gene_variant,,ENST00000537488,;ATN1,upstream_gene_variant,,ENST00000541029,;							MODERATE	1901/3573	P634L	ATN1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000349076		CCDS31734.1			1	
MAOB	0	LGGM	GRCh37	X	43640695	43640695	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	20	5	.	.	ENST00000378069.4:c.1025G>A	p.Gly342Glu	p.G342E	ENST00000378069	NM_000898.4	342	gGa/gAa	0	1	1	UPI0000049071	0	getma.org/pdb.php?prot=AOFB_HUMAN&from=14&to=451&var=G342E	ENST00000378069		ENSG00000069535	6834		25	3.71		HGNC	p.G342E		MAOB		SNV							ENST00000378069	protein_coding	getma.org/?cm=var&var=hg19,X,43640695,C,T&fts=all		hmmpanther:PTHR10742,hmmpanther:PTHR10742:SF219,Pfam_domain:PF01593,Gene3D:3.90.660.10,Superfamily_domains:SSF54373		G/E		T	high	1173/2566		getma.org/?cm=msa&ty=f&p=AOFB_HUMAN&rb=14&re=451&var=G342E	deleterious(0)	H0YCD8_HUMAN,B7Z242_HUMAN			YES	MAOB,missense_variant,p.Gly342Glu,ENST00000378069,NM_000898.4;MAOB,missense_variant,p.Gly326Glu,ENST00000536181,;MAOB,missense_variant,p.Gly326Glu,ENST00000538942,;							MODERATE	1025/1563	G342E	AOFB_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000367309		CCDS14261.1			1	
COL4A1	0	LGGM	GRCh37	13	110826853	110826853	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	12	5	.	.	ENST00000375820.4:c.3346G>A	p.Glu1116Lys	p.E1116K	ENST00000375820	NM_001845.4	1116	Gaa/Aaa	0	1	1	UPI00001FCA8A	0	NA	ENST00000375820		ENSG00000187498	2202		17	0.76		HGNC	p.E765K	COSM3872830,COSM3872831	COL4A1		SNV			1			1,1	ENST00000397198	protein_coding	getma.org/?cm=var&var=hg19,13,110826853,C,T&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF61,Pfam_domain:PF01391,Pfam_domain:PF01391		E/K		T	neutral	3468/6524		getma.org/?cm=msa&ty=f&p=CO4A1_HUMAN&rb=1088&re=1174&var=E1116K		A9LSU1_HUMAN			YES	COL4A1,missense_variant,p.Glu1116Lys,ENST00000375820,NM_001845.4;					1,1		MODERATE	3346/5010	E1116K	CO4A1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000364979		CCDS9511.1			1	
GALNT9	0	LGGM	GRCh37	12	132681788	132681788	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	10	5	.	.	ENST00000397325.2:c.578T>A	p.Ile193Asn	p.I193N	ENST00000397325	NM_021808.3	193	aTt/aAt	0	1	1	UPI000006CCBE	0	getma.org/pdb.php?prot=H3BM10_HUMAN&from=201&to=376&var=I332N	ENST00000397325		ENSG00000182870	4131		15	2.925		HGNC	p.I193N		GALNT9		SNV							ENST00000397325	protein_coding	getma.org/?cm=var&var=hg19,12,132681788,A,T&fts=all		PROSITE_profiles:PS50231,hmmpanther:PTHR11675:SF28,hmmpanther:PTHR11675,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370		I/N		T	medium	856/1720		getma.org/?cm=msa&ty=f&p=H3BM10_HUMAN&rb=201&re=376&var=I332N	deleterious(0)	F5H557_HUMAN,F5H317_HUMAN			YES	GALNT9,missense_variant,p.Ile559Asn,ENST00000328957,NM_001122636.1;GALNT9,missense_variant,p.Ile310Asn,ENST00000535228,;GALNT9,missense_variant,p.Ile332Asn,ENST00000411988,;GALNT9,missense_variant,p.Ile193Asn,ENST00000397325,NM_021808.3;GALNT9,missense_variant,p.Ile193Asn,ENST00000541995,;GALNT9,downstream_gene_variant,,ENST00000538356,;							MODERATE	578/714	I332N	GALT9_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000380488		CCDS41866.1			1	
ABCA1	0	LGGM	GRCh37	9	107568547	107568547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	30	5	.	.	ENST00000374736.3:c.4439G>T	p.Gly1480Val	p.G1480V	ENST00000374736	NM_005502.3	1480	gGg/gTg	0	1	1	UPI000013E441	0	NA	ENST00000374736		ENSG00000165029	29		35	2.815		HGNC	p.G1480V		ABCA1		SNV			1				ENST00000374736	protein_coding	getma.org/?cm=var&var=hg19,9,107568547,C,A&fts=all		hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		G/V		A	medium	4834/10494		getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1344&re=1869&var=G1480V	deleterious(0.02)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Gly1480Val,ENST00000374736,NM_005502.3;							MODERATE	4439/6786	G1480V	ABCA1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000363868		CCDS6762.1			1	
MUC2	0	LGGM	GRCh37	11	1075779	1075779	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	8	5	.	.	ENST00000441003.2:c.205G>A	p.Gly69Ser	p.G69S	ENST00000441003	NM_002457.2	69	Ggc/Agc	0	1	1	UPI00006C10F2	0	NA	ENST00000441003		ENSG00000198788	7512		13	0.04		HGNC	p.G69S		MUC2		SNV							ENST00000441003	protein_coding	getma.org/?cm=var&var=hg19,11,1075779,G,A&fts=all		PROSITE_profiles:PS51233,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF261,Pfam_domain:PF00094,SMART_domains:SM00216		G/S		A	neutral	232/8637		getma.org/?cm=msa&ty=f&p=MUC2_HUMAN&rb=37&re=186&var=G69S		Q9UMI9_HUMAN,Q9HBC6_HUMAN,H0Y2U6_HUMAN,E7EUV1_HUMAN			YES	MUC2,missense_variant,p.Gly69Ser,ENST00000441003,NM_002457.2;MUC2,missense_variant,p.Gly69Ser,ENST00000359061,;							MODERATE	205/8454	G69S				Transcript		possibly_damaging(0.747)	.	ENSP00000415183					1	
CDH15	0	LGGM	GRCh37	16	89245947	89245947	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	9	5	.	.	ENST00000289746.2:c.166G>T	p.Glu56Ter	p.E56*	ENST00000289746	NM_004933.2	56	Gag/Tag	0	1	1	UPI0000126DAF	0	NA	ENST00000289746		ENSG00000129910	1754		14	0		HGNC	p.E56X		CDH15		SNV			1				ENST00000289746	protein_coding	getma.org/?cm=var&var=hg19,16,89245947,G,T&fts=all		Superfamily_domains:SSF49313,Pfam_domain:PF00028,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF67		E/*		T	NA	231/2847		NA					YES	CDH15,stop_gained,p.Glu56Ter,ENST00000289746,NM_004933.2;CDH15,non_coding_transcript_exon_variant,,ENST00000521087,;CDH15,non_coding_transcript_exon_variant,,ENST00000524089,;							HIGH	166/2445	E56*	CAD15_HUMAN			Transcript			.	ENSP00000289746		CCDS10976.1			1	
C12orf4	0	LGGM	GRCh37	12	4645206	4645206	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	32	5	.	.	ENST00000261250.3:c.155G>T	p.Ser52Ile	p.S52I	ENST00000261250	NM_020374.2	52	aGt/aTt	0	1	1	UPI0000038C60	0	NA	ENST00000261250		ENSG00000047621	1184		37	0		HGNC	p.S5I		C12orf4		SNV							ENST00000542080	protein_coding	getma.org/?cm=var&var=hg19,12,4645206,C,A&fts=all		Pfam_domain:PF10154,hmmpanther:PTHR16525,hmmpanther:PTHR16525:SF0		S/I		A	neutral	243/3826		getma.org/?cm=msa&ty=f&p=CL004_HUMAN&rb=37&re=548&var=S52I	deleterious(0.02)	F5H744_HUMAN,F5GXX6_HUMAN			YES	C12orf4,missense_variant,p.Ser52Ile,ENST00000261250,NM_020374.2;C12orf4,missense_variant,p.Ser52Ile,ENST00000545746,;C12orf4,missense_variant,p.Ser5Ile,ENST00000542080,;C12orf4,intron_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,non_coding_transcript_exon_variant,,ENST00000535030,;C12orf4,intron_variant,,ENST00000544697,;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,;RAD51AP1,upstream_gene_variant,,ENST00000544110,;							MODERATE	155/1659	S52I	CL004_HUMAN			Transcript		benign(0.131)	.	ENSP00000261250		CCDS8528.1			1	
ZNF507	0	LGGM	GRCh37	19	32847569	32847569	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	46	6	.	.	ENST00000311921.4:c.2175C>G	p.Thr725=	p.T725=	ENST00000311921	NM_014910.4	725	acC/acG	0	1	1	UPI0000202010	0		ENST00000311921		ENSG00000168813	23783		52			HGNC	p.T725T		ZNF507		SNV							ENST00000587084	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24402:SF193,hmmpanther:PTHR24402		T		G		2367/7638							YES	ZNF507,synonymous_variant,p.=,ENST00000311921,NM_014910.4,NM_001136156.1;ZNF507,synonymous_variant,p.=,ENST00000544431,;ZNF507,synonymous_variant,p.=,ENST00000355898,;ZNF507,non_coding_transcript_exon_variant,,ENST00000587084,;							LOW	2175/2862		ZN507_HUMAN			Transcript			.	ENSP00000312277		CCDS32985.1			1	
SH3GL2	0	LGGM	GRCh37	9	17795583	17795583	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	9	6	.	.	ENST00000380607.4:c.901T>A	p.Phe301Ile	p.F301I	ENST00000380607	NM_003026.2	301	Ttt/Att	0	1	1	UPI0000135933	0	getma.org/pdb.php?prot=SH3G2_HUMAN&from=294&to=347&var=F301I	ENST00000380607		ENSG00000107295	10831		15	4.095		HGNC	p.F254I		SH3GL2		SNV							ENST00000537391	protein_coding	getma.org/?cm=var&var=hg19,9,17795583,T,A&fts=all		PROSITE_profiles:PS50002,hmmpanther:PTHR10661:SF113,hmmpanther:PTHR10661,Pfam_domain:PF14604,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044,Prints_domain:PR00452,Prints_domain:PR01887		F/I		A	high	1021/2565		getma.org/?cm=msa&ty=f&p=SH3G2_HUMAN&rb=294&re=347&var=F301I	deleterious(0)	Q7Z376_HUMAN,Q3V639_HUMAN,F5H5J3_HUMAN,D3DRJ2_HUMAN			YES	SH3GL2,missense_variant,p.Phe301Ile,ENST00000380607,NM_003026.2;SH3GL2,missense_variant,p.Phe254Ile,ENST00000537391,;							MODERATE	901/1059	F301I	SH3G2_HUMAN			Transcript		possibly_damaging(0.645)	.	ENSP00000369981		CCDS6483.1			1	
TMPRSS2	0	LGGM	GRCh37	21	42842610	42842610	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	11	6	.	.	ENST00000398585.3:c.1247G>T	p.Cys416Phe	p.C416F	ENST00000398585	NM_001135099.1	416	tGc/tTc	0	1		UPI0000049921	0	getma.org/pdb.php?prot=TMPS2_HUMAN&from=256&to=484&var=C379F	ENST00000332149		ENSG00000184012	11876		17	2.495		HGNC	p.C379F		TMPRSS2		SNV							ENST00000458356	protein_coding	getma.org/?cm=var&var=hg19,21,42842610,C,A&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF94,SMART_domains:SM00020,Superfamily_domains:SSF50494		C/F		A	medium	1271/3205		getma.org/?cm=msa&ty=f&p=TMPS2_HUMAN&rb=256&re=484&var=C379F	deleterious(0)	C9JKZ3_HUMAN,C9JB05_HUMAN				TMPRSS2,missense_variant,p.Cys416Phe,ENST00000398585,NM_001135099.1;TMPRSS2,missense_variant,p.Cys379Phe,ENST00000332149,NM_005656.3;TMPRSS2,missense_variant,p.Cys379Phe,ENST00000454499,;TMPRSS2,missense_variant,p.Cys379Phe,ENST00000458356,;TMPRSS2,downstream_gene_variant,,ENST00000424093,;TMPRSS2,upstream_gene_variant,,ENST00000488556,;TMPRSS2,upstream_gene_variant,,ENST00000469395,;							MODERATE	1136/1479	C379F	TMPS2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000330330		CCDS33564.1			1	
STRAP	0	LGGM	GRCh37	12	16047043	16047043	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	42	6	.	.	ENST00000419869.2:c.466A>T	p.Lys156Ter	p.K156*	ENST00000419869	NM_007178.3	156	Aaa/Taa	0	1	1	UPI0000137C97	0	NA	ENST00000419869		ENSG00000023734	30796		48	0		HGNC	p.K156X		STRAP		SNV							ENST00000419869	protein_coding	getma.org/?cm=var&var=hg19,12,16047043,A,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19877,SMART_domains:SM00320,Superfamily_domains:SSF50978		K/*		T	NA	779/1866		NA		B0AZV0_HUMAN			YES	STRAP,stop_gained,p.Lys156Ter,ENST00000419869,NM_007178.3;STRAP,stop_gained,p.Lys169Ter,ENST00000025399,;STRAP,stop_gained,p.Lys62Ter,ENST00000538352,;STRAP,upstream_gene_variant,,ENST00000538718,;STRAP,3_prime_UTR_variant,,ENST00000541731,;STRAP,upstream_gene_variant,,ENST00000536737,;							HIGH	466/1053	K156*	STRAP_HUMAN			Transcript			.	ENSP00000392270		CCDS8676.1			1	
DOCK2	0	LGGM	GRCh37	5	169135255	169135255	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	10	6	.	.	ENST00000256935.8:c.1466G>C	p.Trp489Ser	p.W489S	ENST00000256935	NM_004946.2	489	tGg/tCg	0	1	1	UPI00001A38CC	0	getma.org/pdb.php?prot=DOCK2_HUMAN&from=418&to=617&var=W489S	ENST00000256935		ENSG00000134516	2988		16	3.17		HGNC	p.W489S		DOCK2		SNV							ENST00000256935	protein_coding	getma.org/?cm=var&var=hg19,5,169135255,G,C&fts=all		PROSITE_profiles:PS51650,hmmpanther:PTHR23317:SF73,hmmpanther:PTHR23317,Pfam_domain:PF14429		W/S		C	medium	1546/6097		getma.org/?cm=msa&ty=f&p=DOCK2_HUMAN&rb=418&re=617&var=W489S	deleterious(0)	Q5XG91_HUMAN,B3KXW9_HUMAN			YES	DOCK2,missense_variant,p.Trp489Ser,ENST00000256935,NM_004946.2;DOCK2,missense_variant,p.Gly16Arg,ENST00000520908,;DOCK2,5_prime_UTR_variant,,ENST00000540750,;DOCK2,missense_variant,p.Trp489Ser,ENST00000524185,;							MODERATE	1466/5493	W489S	DOCK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000256935		CCDS4371.1			1	
ATP10B	0	LGGM	GRCh37	5	160063277	160063277	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	41	7	.	.	ENST00000327245.5:c.1040C>A	p.Pro347His	p.P347H	ENST00000327245	NM_025153.2	347	cCc/cAc	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		48	2.19		HGNC	p.P347H		ATP10B		SNV							ENST00000327245	protein_coding	getma.org/?cm=var&var=hg19,5,160063277,G,T&fts=all		Superfamily_domains:0049473,Pfam_domain:PF00122,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		P/H		T	medium	1887/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=121&re=400&var=P347H	tolerated(0.54)				YES	ATP10B,missense_variant,p.Pro347His,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,;							MODERATE	1040/4386	P347H	AT10B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000313600		CCDS43394.1			1	
TBX22	0	LGGM	GRCh37	X	79278730	79278730	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	34	7	.	.	ENST00000373294.5:c.347A>T	p.Lys116Ile	p.K116I	ENST00000373294	NM_016954.2	116	aAa/aTa	0	1	1	UPI00001377ED	0	getma.org/pdb.php?prot=TBX22_HUMAN&from=93&to=284&var=K116I	ENST00000373294		ENSG00000122145	11600		41	4.105		HGNC	p.K116I		TBX22		SNV			1				ENST00000373294	protein_coding	getma.org/?cm=var&var=hg19,X,79278730,A,T&fts=all		PROSITE_profiles:PS50252,hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF97,PROSITE_patterns:PS01283,Pfam_domain:PF00907,Gene3D:1h6fA00,SMART_domains:SM00425,Superfamily_domains:SSF49417,Prints_domain:PR00937		K/I		T	high	375/2249		getma.org/?cm=msa&ty=f&p=TBX22_HUMAN&rb=93&re=284&var=K116I	deleterious(0)	C3TX51_HUMAN			YES	TBX22,missense_variant,p.Lys116Ile,ENST00000373294,NM_016954.2;TBX22,missense_variant,p.Lys116Ile,ENST00000373296,;TBX22,5_prime_UTR_variant,,ENST00000442340,NM_001109878.1,NM_001109879.1;TBX22,5_prime_UTR_variant,,ENST00000373291,;TBX22,downstream_gene_variant,,ENST00000476373,;							MODERATE	347/1563	K116I	TBX22_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362390		CCDS14445.1			1	
BMP1	0	LGGM	GRCh37	8	22052014	22052014	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	41	7	.	.	ENST00000306385.5:c.1354C>G	p.Pro452Ala	p.P452A	ENST00000306385	NM_006129.4	452	Cca/Gca	0	1	1	UPI0000049818	0	getma.org/pdb.php?prot=BMP1_HUMAN&from=435&to=544&var=P452A	ENST00000306385		ENSG00000168487	1067		48	3.755		HGNC	p.P452A		BMP1		SNV			1				ENST00000397816	protein_coding	getma.org/?cm=var&var=hg19,8,22052014,C,G&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR10127:SF305,hmmpanther:PTHR10127,Pfam_domain:PF00431,Gene3D:2.60.120.290,PIRSF_domain:PIRSF001199,SMART_domains:SM00042,Superfamily_domains:SSF49854		P/A		G	high	2024/4229		getma.org/?cm=msa&ty=f&p=BMP1_HUMAN&rb=435&re=544&var=P452A	deleterious(0)				YES	BMP1,missense_variant,p.Pro452Ala,ENST00000306385,NM_006129.4;BMP1,missense_variant,p.Pro452Ala,ENST00000397816,;BMP1,missense_variant,p.Pro452Ala,ENST00000306349,NM_001199.3;BMP1,missense_variant,p.Pro452Ala,ENST00000397814,;BMP1,3_prime_UTR_variant,,ENST00000354870,;BMP1,non_coding_transcript_exon_variant,,ENST00000523749,;BMP1,missense_variant,p.Pro452Ala,ENST00000520970,;BMP1,missense_variant,p.Pro452Ala,ENST00000471755,;BMP1,missense_variant,p.Pro452Ala,ENST00000521385,;BMP1,3_prime_UTR_variant,,ENST00000520626,;BMP1,3_prime_UTR_variant,,ENST00000520982,;BMP1,3_prime_UTR_variant,,ENST00000518913,;BMP1,3_prime_UTR_variant,,ENST00000483364,;BMP1,non_coding_transcript_exon_variant,,ENST00000517324,;BMP1,upstream_gene_variant,,ENST00000522332,;BMP1,downstream_gene_variant,,ENST00000523457,;							MODERATE	1354/2961	P452A	BMP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000305714		CCDS6026.1			1	
CAPN13	0	LGGM	GRCh37	2	30961302	30961302	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	16	7	.	.	ENST00000295055.8:c.1558C>A	p.Gln520Lys	p.Q520K	ENST00000295055	NM_144575.2	520	Cag/Aag	0	1	1	UPI00000463E5	0	getma.org/pdb.php?prot=CAN13_HUMAN&from=483&to=669&var=Q520K	ENST00000295055		ENSG00000162949	16663		23	2.19		HGNC	p.Q520K		CAPN13		SNV							ENST00000534090	protein_coding	getma.org/?cm=var&var=hg19,2,30961302,G,T&fts=all		hmmpanther:PTHR10183:SF37,hmmpanther:PTHR10183,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		Q/K		T	medium	1735/2683		getma.org/?cm=msa&ty=f&p=CAN13_HUMAN&rb=483&re=669&var=Q520K	deleterious(0.03)				YES	CAPN13,missense_variant,p.Gln520Lys,ENST00000295055,NM_144575.2;CAPN13,missense_variant,p.Gln520Lys,ENST00000534090,;CAPN13,missense_variant,p.Gln84Lys,ENST00000450650,;CAPN13,downstream_gene_variant,,ENST00000458085,;CAPN13,downstream_gene_variant,,ENST00000465450,;							MODERATE	1558/2010	Q520K	CAN13_HUMAN			Transcript		benign(0.218)	.	ENSP00000295055		CCDS46252.1			1	
KCTD17	0	LGGM	GRCh37	22	37455446	37455446	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	29	7	.	.	ENST00000402077.3:c.601G>A	p.Gly201Arg	p.G201R	ENST00000402077	NM_024681.2	201	Ggg/Agg	0	1		UPI0001610FBA	0	NA	ENST00000403888		ENSG00000100379	25705	8.68E-05	36	0.805		HGNC	p.G201R	rs557230272	KCTD17		SNV				9.77E-05			ENST00000403888	protein_coding	getma.org/?cm=var&var=hg19,22,37455446,G,A&fts=all	A:0	hmmpanther:PTHR14958,hmmpanther:PTHR14958:SF20		G/R		A	low	602/1763		getma.org/?cm=msa&ty=f&p=KCD17_HUMAN&rb=201&re=320&var=G201R	deleterious(0)		A:0.0014	A:0		KCTD17,missense_variant,p.Gly201Arg,ENST00000403888,NM_001282684.1;KCTD17,missense_variant,p.Gly201Arg,ENST00000402077,NM_024681.2;KCTD17,missense_variant,p.Gly156Arg,ENST00000456470,NM_001282685.1;RN7SKP214,upstream_gene_variant,,ENST00000364208,;KCTD17,non_coding_transcript_exon_variant,,ENST00000462640,;KCTD17,non_coding_transcript_exon_variant,,ENST00000478231,;KCTD17,non_coding_transcript_exon_variant,,ENST00000483389,;KCTD17,downstream_gene_variant,,ENST00000421900,;	0.000118	A:0.0002					MODERATE	601/966	G201R	KCD17_HUMAN		A:0	Transcript		probably_damaging(0.974)	.	ENSP00000385096	2.47E-05			A:0	1	
LACRT	0	LGGM	GRCh37	12	55026066	55026066	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	37	8	.	.	ENST00000257867.4:c.212C>T	p.Thr71Ile	p.T71I	ENST00000257867	NM_033277.1	71	aCa/aTa	0	1	1	UPI0000038CCC	0	NA	ENST00000257867		ENSG00000135413	16430		45	0.345		HGNC	p.T71I		LACRT		SNV							ENST00000547511	protein_coding	getma.org/?cm=var&var=hg19,12,55026066,G,A&fts=all				T/I		A	neutral	266/551		getma.org/?cm=msa&ty=f&p=LACRT_HUMAN&rb=1&re=137&var=T71I	tolerated_low_confidence(0.22)				YES	LACRT,missense_variant,p.Thr71Ile,ENST00000257867,NM_033277.1;LACRT,missense_variant,p.Thr71Ile,ENST00000547511,;LACRT,missense_variant,p.Thr41Ile,ENST00000546721,;LACRT,non_coding_transcript_exon_variant,,ENST00000549816,;							MODERATE	212/417	T71I	LACRT_HUMAN			Transcript		possibly_damaging(0.702)	.	ENSP00000257867		CCDS8883.1			1	
MTOR	0	LGGM	GRCh37	1	11174876	11174876	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	18	8	.	.	ENST00000361445.4:c.7158T>G	p.Ala2386=	p.A2386=	ENST00000361445	NM_004958.3	2386	gcT/gcG	0	1	1	UPI000012ABD3	0		ENST00000361445		ENSG00000198793	3942		26			HGNC	p.A42A		MTOR		SNV			1				ENST00000455339	protein_coding			PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Pfam_domain:PF00454,Gene3D:1.10.1070.11,SMART_domains:SM00146,Superfamily_domains:SSF56112		A		C		7235/8677				Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,synonymous_variant,p.=,ENST00000361445,NM_004958.3;MTOR,synonymous_variant,p.=,ENST00000376838,;MTOR,synonymous_variant,p.=,ENST00000455339,;MTOR,non_coding_transcript_exon_variant,,ENST00000490931,;MTOR,upstream_gene_variant,,ENST00000473471,;							LOW	7158/7650		MTOR_HUMAN			Transcript			.	ENSP00000354558		CCDS127.1			1	
CENPJ	0	LGGM	GRCh37	13	25457425	25457425	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	32	8	.	.	ENST00000381884.4:c.3907G>A	p.Gly1303Ser	p.G1303S	ENST00000381884	NM_018451.4	1303	Ggc/Agc	0	1	1	UPI000013DC8A	0	NA	ENST00000381884		ENSG00000151849	17272		40	3.36		HGNC	p.G1303S		CENPJ		SNV			1				ENST00000381884	protein_coding	getma.org/?cm=var&var=hg19,13,25457425,C,T&fts=all		Pfam_domain:PF07202,hmmpanther:PTHR10331,hmmpanther:PTHR10331:SF19		G/S		T	medium	4093/4347		getma.org/?cm=msa&ty=f&p=CENPJ_HUMAN&rb=1159&re=1337&var=G1303S	deleterious(0)	B3KVU9_HUMAN			YES	CENPJ,missense_variant,p.Gly1303Ser,ENST00000381884,NM_018451.4;CENPJ,3_prime_UTR_variant,,ENST00000545981,;RNF17,downstream_gene_variant,,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,downstream_gene_variant,,ENST00000381921,;RNF17,downstream_gene_variant,,ENST00000339524,;CENPJ,downstream_gene_variant,,ENST00000493190,;CENPJ,downstream_gene_variant,,ENST00000471870,;							MODERATE	3907/4017	G1303S	CENPJ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000371308		CCDS9310.1			1	
HBG2	0	LGGM	GRCh37	11	5275521	5275521	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	52	9	.	.	ENST00000380259.2:c.315+1G>T		p.X105_splice	ENST00000380259				0	1		UPI00000012DA	0		ENST00000336906		ENSG00000196565	4832		61			HGNC	-		HBG2		SNV			1				ENST00000380259	protein_coding							A		-/602				Q9UNL6_HUMAN,Q9UJ01_HUMAN,Q14476_HUMAN,Q14474_HUMAN,Q14402_HUMAN,D9YZU9_HUMAN,A1EGU3_HUMAN				HBG2,splice_donor_variant,,ENST00000380259,;HBG2,splice_donor_variant,,ENST00000380252,;HBG2,splice_donor_variant,,ENST00000336906,NM_000184.2;HBG1,upstream_gene_variant,,ENST00000330597,NM_000559.2;HBG2,splice_donor_variant,,ENST00000444587,;							HIGH	315/444		HBG2_HUMAN			Transcript			.	ENSP00000338082		CCDS7755.1			1	
CCDC68	0	LGGM	GRCh37	18	52604176	52604176	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	44	10	.	.	ENST00000591504.1:c.359G>C	p.Arg120Thr	p.R120T	ENST00000591504	NM_025214.2	120	aGa/aCa	0	1		UPI00000435F1	0	NA	ENST00000337363		ENSG00000166510	24350		54	2.24		HGNC	p.R120T		CCDC68		SNV							ENST00000591504	protein_coding	getma.org/?cm=var&var=hg19,18,52604176,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171:SF3,hmmpanther:PTHR23171		R/T		G	medium	531/1457		getma.org/?cm=msa&ty=f&p=CCD68_HUMAN&rb=1&re=139&var=R120T	deleterious(0)					CCDC68,missense_variant,p.Arg120Thr,ENST00000591504,NM_025214.2;CCDC68,missense_variant,p.Arg120Thr,ENST00000432185,;CCDC68,missense_variant,p.Arg120Thr,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,;							MODERATE	359/1008	R120T	CCD68_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000337209		CCDS11959.1			1	
CCDC97	0	LGGM	GRCh37	19	41822546	41822546	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	9	10	.	.	ENST00000269967.3:c.304G>A	p.Glu102Lys	p.E102K	ENST00000269967	NM_052848.1	102	Gag/Aag	0	1	1	UPI000007279F	0	NA	ENST00000269967		ENSG00000142039	28289		19	-0.695		HGNC	p.E102K	rs760937643	CCDC97	0.000486	SNV							ENST00000269967	protein_coding	getma.org/?cm=var&var=hg19,19,41822546,G,A&fts=all		hmmpanther:PTHR31840		E/K		A	neutral	426/3322	1.51E-05	getma.org/?cm=msa&ty=f&p=CCD97_HUMAN&rb=1&re=155&var=E102K	tolerated(0.61)				YES	CCDC97,missense_variant,p.Glu102Lys,ENST00000269967,NM_052848.1;TGFB1,intron_variant,,ENST00000598758,;CCDC97,upstream_gene_variant,,ENST00000600918,;CCDC97,downstream_gene_variant,,ENST00000596882,;							MODERATE	304/1032	E102K	CCD97_HUMAN			Transcript		benign(0.021)	common_variant	ENSP00000269967	7.41E-05	CCDS12578.1			1	
SLC9C1	0	LGGM	GRCh37	3	111887873	111887873	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	31	11	.	.	ENST00000305815.5:c.3088A>G	p.Ile1030Val	p.I1030V	ENST00000305815	NM_183061.1	1030	Att/Gtt	0	1	1	UPI00002372C5	0	NA	ENST00000305815		ENSG00000172139	31401		42	0.435		HGNC	p.I1030V		SLC9C1		SNV							ENST00000305815	protein_coding	getma.org/?cm=var&var=hg19,3,111887873,T,C&fts=all		hmmpanther:PTHR10110,hmmpanther:PTHR10110:SF87		I/V		C	neutral	3341/4172		getma.org/?cm=msa&ty=f&p=S9A10_HUMAN&rb=992&re=1177&var=I1030V	tolerated(0.9)	C9J3M6_HUMAN			YES	SLC9C1,missense_variant,p.Ile1030Val,ENST00000305815,NM_183061.1;SLC9C1,missense_variant,p.Ile982Val,ENST00000487372,;SLC9C1,3_prime_UTR_variant,,ENST00000471295,;							MODERATE	3088/3534	I1030V	SL9C1_HUMAN			Transcript		benign(0.003)	.	ENSP00000306627		CCDS33817.1			1	
WBSCR17	0	LGGM	GRCh37	7	71177029	71177029	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	49	12	.	.	ENST00000333538.5:c.1695G>A	p.Thr565=	p.T565=	ENST00000333538	NM_022479.2	565	acG/acA	0	1	1	UPI00000502D5	0		ENST00000333538		ENSG00000185274	16347		61			HGNC	p.T565T	rs371626273,COSM3640226	WBSCR17	6.06E-05	SNV	A:0					0,1	ENST00000333538	protein_coding			PROSITE_profiles:PS50231,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF38,Pfam_domain:PF00652,Gene3D:2.80.10.50,SMART_domains:SM00458,Superfamily_domains:SSF50370		T	A:0.0001	A		2329/3884	3.00E-05			Q68CW8_HUMAN,Q2L4S5_HUMAN,B3KRD2_HUMAN			YES	WBSCR17,synonymous_variant,p.=,ENST00000333538,NM_022479.2;WBSCR17,non_coding_transcript_exon_variant,,ENST00000498380,;WBSCR17,non_coding_transcript_exon_variant,,ENST00000467723,;					0,1		LOW	1695/1797		GLTL3_HUMAN			Transcript			.	ENSP00000329654	2.47E-05	CCDS5540.1			1	
ZCCHC6	0	LGGM	GRCh37	9	88959983	88959983	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	47	12	.	.	ENST00000375963.3:c.906G>C	p.Val302=	p.V302=	ENST00000375963	NM_001185059.1	302	gtG/gtC	0	1	1	UPI00004588F6	0		ENST00000375963		ENSG00000083223	25817		59			HGNC	p.V302V		ZCCHC6		SNV							ENST00000375961	protein_coding			hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF34,Superfamily_domains:SSF81301		V		G		1079/5379							YES	ZCCHC6,synonymous_variant,p.=,ENST00000375961,;ZCCHC6,synonymous_variant,p.=,ENST00000375963,NM_001185059.1,NM_024617.3;ZCCHC6,synonymous_variant,p.=,ENST00000375960,NM_001185074.1;ZCCHC6,synonymous_variant,p.=,ENST00000375947,;ZCCHC6,5_prime_UTR_variant,,ENST00000277141,;ZCCHC6,upstream_gene_variant,,ENST00000375948,;							LOW	906/4488		TUT7_HUMAN			Transcript			.	ENSP00000365130		CCDS35057.1			1	
UNC5D	0	LGGM	GRCh37	8	35583902	35583902	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	52	12	.	.	ENST00000404895.2:c.1536T>A	p.His512Gln	p.H512Q	ENST00000404895	NM_080872.2	512	caT/caA	0	1	1	UPI00001D6915	0	NA	ENST00000404895		ENSG00000156687	18634		64	1.1		HGNC	p.H512Q		UNC5D		SNV							ENST00000404895	protein_coding	getma.org/?cm=var&var=hg19,8,35583902,T,A&fts=all		hmmpanther:PTHR12582,hmmpanther:PTHR12582:SF5		H/Q		A	low	1864/3252		getma.org/?cm=msa&ty=f&p=UNC5D_HUMAN&rb=360&re=539&var=H512Q	tolerated(0.39)				YES	UNC5D,missense_variant,p.His443Gln,ENST00000287272,;UNC5D,missense_variant,p.His507Gln,ENST00000453357,;UNC5D,missense_variant,p.His517Gln,ENST00000416672,;UNC5D,missense_variant,p.His512Gln,ENST00000404895,NM_080872.2;UNC5D,missense_variant,p.His445Gln,ENST00000420357,;UNC5D,missense_variant,p.His88Gln,ENST00000449677,;UNC5D,non_coding_transcript_exon_variant,,ENST00000474634,;							MODERATE	1536/2862	H512Q	UNC5D_HUMAN			Transcript		benign(0.001)	.	ENSP00000385143		CCDS6093.2			1	
SLC30A1	0	LGGM	GRCh37	1	211749541	211749541	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	16	12	.	.	ENST00000367001.4:c.713A>G	p.Asp238Gly	p.D238G	ENST00000367001	NM_021194.2	238	gAt/gGt	0	1	1	UPI000013EBA0	0	NA	ENST00000367001		ENSG00000170385	11012		28	0.43		HGNC	p.D238G		SLC30A1		SNV							ENST00000367001	protein_coding	getma.org/?cm=var&var=hg19,1,211749541,T,C&fts=all		hmmpanther:PTHR11562:SF29,hmmpanther:PTHR11562,Gene3D:3h90A01,Pfam_domain:PF01545,TIGRFAM_domain:TIGR01297,Superfamily_domains:0054606		D/G		C	neutral	843/5474		getma.org/?cm=msa&ty=f&p=ZNT1_HUMAN&rb=11&re=426&var=D238G	deleterious(0.04)	Q96KD7_HUMAN			YES	SLC30A1,missense_variant,p.Asp238Gly,ENST00000367001,NM_021194.2;							MODERATE	713/1524	D238G	ZNT1_HUMAN			Transcript		benign(0.07)	.	ENSP00000355968		CCDS1499.1			1	
XIRP2	0	LGGM	GRCh37	2	168097218	168097218	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	50	12	.	.	ENST00000409195.1:c.1014T>C	p.Ser338=	p.S338=	ENST00000409195	NM_152381.5	338	tcT/tcC	0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		62			HGNC	p.S338S		XIRP2		SNV							ENST00000409756	protein_coding			hmmpanther:PTHR22591,hmmpanther:PTHR22591:SF1		S		C		1103/12675				J3KNB1_HUMAN			YES	XIRP2,synonymous_variant,p.=,ENST00000409195,NM_152381.5;XIRP2,synonymous_variant,p.=,ENST00000295237,;XIRP2,synonymous_variant,p.=,ENST00000409273,NM_001199144.1;XIRP2,synonymous_variant,p.=,ENST00000409728,NM_001199143.1;XIRP2,synonymous_variant,p.=,ENST00000409043,NM_001079810.3;XIRP2,synonymous_variant,p.=,ENST00000409756,;XIRP2,synonymous_variant,p.=,ENST00000420519,;XIRP2,synonymous_variant,p.=,ENST00000409605,NM_001199145.1;							LOW	1014/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
EPHB2	0	LGGM	GRCh37	1	23236928	23236928	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	14	12	.	.	ENST00000374632.3:c.2559G>T	p.Pro853=	p.P853=	ENST00000374632		853	ccG/ccT	0	1		UPI0000033EC3	0		ENST00000400191		ENSG00000133216	3393		26			HGNC	p.P852P		EPHB2		SNV			1				ENST00000400191	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000666,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF123,SMART_domains:SM00219,Superfamily_domains:SSF56112		P		T		2574/4641								EPHB2,synonymous_variant,p.=,ENST00000400191,NM_004442.6,NM_017449.3;EPHB2,synonymous_variant,p.=,ENST00000374627,;EPHB2,synonymous_variant,p.=,ENST00000374632,;EPHB2,synonymous_variant,p.=,ENST00000374630,;							LOW	2556/3168		EPHB2_HUMAN			Transcript			.	ENSP00000383053					1	
ACPL2	0	LGGM	GRCh37	3	141011750	141011750	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	58	15	.	.	ENST00000286353.4:c.1146G>C	p.Leu382=	p.L382=	ENST00000286353	NM_001037172.1	382	ctG/ctC	0	1	1	UPI0000048EC7	0		ENST00000286353		ENSG00000155893	26303		73			HGNC	p.L366L		ACPL2		SNV							ENST00000393007	protein_coding			hmmpanther:PTHR11567:SF110,hmmpanther:PTHR11567,Pfam_domain:PF00328,Gene3D:3.40.50.1240,Superfamily_domains:SSF53254		L		C		1283/3281				D6RGE3_HUMAN,D6RE60_HUMAN,D6RDP0_HUMAN,D6R928_HUMAN,B7Z4T2_HUMAN			YES	ACPL2,synonymous_variant,p.=,ENST00000508812,;ACPL2,synonymous_variant,p.=,ENST00000286353,NM_001037172.1;ACPL2,synonymous_variant,p.=,ENST00000393010,NM_152282.3;ACPL2,synonymous_variant,p.=,ENST00000393007,;ACPL2,synonymous_variant,p.=,ENST00000502783,NM_001282728.1;ACPL2,synonymous_variant,p.=,ENST00000504264,;RP11-438D8.2,intron_variant,,ENST00000507698,;ACPL2,downstream_gene_variant,,ENST00000514263,;ACPL2,downstream_gene_variant,,ENST00000514880,;							LOW	1146/1443		ACPL2_HUMAN			Transcript			.	ENSP00000286353		CCDS3116.1			1	
ADAMTS20	0	LGGM	GRCh37	12	43822052	43822052	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	67	15	.	.	ENST00000389420.3:c.3937T>A	p.Trp1313Arg	p.W1313R	ENST00000389420	NM_025003.3	1313	Tgg/Agg	0	1	1	UPI00004565F4	0	NA	ENST00000389420		ENSG00000173157	17178		82	4.33		HGNC	p.W443R		ADAMTS20		SNV							ENST00000549670	protein_coding	getma.org/?cm=var&var=hg19,12,43822052,A,T&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF165,Gene3D:2.20.100.10,Pfam_domain:PF00090,SMART_domains:SM00209,Superfamily_domains:SSF82895		W/R		T	high	3937/6076		getma.org/?cm=msa&ty=f&p=ATS20_HUMAN&rb=1308&re=1359&var=W1313R	deleterious(0)				YES	ADAMTS20,missense_variant,p.Trp1313Arg,ENST00000389420,NM_025003.3;ADAMTS20,missense_variant,p.Trp1313Arg,ENST00000553158,;ADAMTS20,missense_variant,p.Trp431Arg,ENST00000395541,;ADAMTS20,missense_variant,p.Trp443Arg,ENST00000549670,;							MODERATE	3937/5733	W1313R	ATS20_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000374071		CCDS31778.2			1	
OR2L13	0	LGGM	GRCh37	1	248263444	248263444	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	47	15	.	.	ENST00000366478.2:c.767A>G	p.Tyr256Cys	p.Y256C	ENST00000366478	NM_175911.2	256	tAc/tGc	0	1		UPI0000043517	0	NA	ENST00000358120		ENSG00000196071	19578		62	0.91		HGNC	p.Y256C		OR2L13		SNV							ENST00000358120	protein_coding	getma.org/?cm=var&var=hg19,1,248263444,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF102,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		Y/C		G	low	912/1692		getma.org/?cm=msa&ty=f&p=OR2LD_HUMAN&rb=138&re=282&var=Y256C	deleterious(0.04)					OR2L13,missense_variant,p.Tyr256Cys,ENST00000366478,NM_175911.2;OR2L13,missense_variant,p.Tyr256Cys,ENST00000358120,;							MODERATE	767/939	Y256C	OR2LD_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000350836		CCDS1637.1			1	
LRRIQ1	0	LGGM	GRCh37	12	85546080	85546080	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	58	15	.	.	ENST00000393217.2:c.4352T>C	p.Leu1451Pro	p.L1451P	ENST00000393217	NM_001079910.1	1451	cTa/cCa	0	1	1	UPI0000ED4E82	0	NA	ENST00000393217		ENSG00000133640	25708		73	0		HGNC	p.L1451P		LRRIQ1		SNV							ENST00000393217	protein_coding	getma.org/?cm=var&var=hg19,12,85546080,T,C&fts=all		Low_complexity_(Seg):seg		L/P		C	neutral	4413/5394		getma.org/?cm=msa&ty=f&p=LRIQ1_HUMAN&rb=1417&re=1721&var=L1451P	tolerated(0.09)	A8MY60_HUMAN			YES	LRRIQ1,missense_variant,p.Leu1451Pro,ENST00000393217,NM_001079910.1;							MODERATE	4352/5169	L1451P	LRIQ1_HUMAN			Transcript		benign(0.011)	.	ENSP00000376910		CCDS41816.1			1	
PGD	0	LGGM	GRCh37	1	10477163	10477163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	31	15	.	.	ENST00000270776.8:c.964G>T	p.Asp322Tyr	p.D322Y	ENST00000270776	NM_002631.2	322	Gac/Tac	0	1	1	UPI0000169DB9	0	getma.org/pdb.php?prot=6PGD_HUMAN&from=180&to=470&var=D322Y	ENST00000270776		ENSG00000142657	8891		46	2.74		HGNC	p.D177Y		PGD		SNV							ENST00000483936	protein_coding	getma.org/?cm=var&var=hg19,1,10477163,G,T&fts=all		hmmpanther:PTHR11811,Gene3D:1.10.1040.10,TIGRFAM_domain:TIGR00873,Pfam_domain:PF00393,PIRSF_domain:PIRSF000109,Superfamily_domains:SSF48179		D/Y		T	medium	1002/1885		getma.org/?cm=msa&ty=f&p=6PGD_HUMAN&rb=180&re=470&var=D322Y	deleterious(0.03)	K7EMN2_HUMAN,K7EM49_HUMAN,B4DV68_HUMAN,B4DQJ8_HUMAN			YES	PGD,missense_variant,p.Asp309Tyr,ENST00000538557,;PGD,missense_variant,p.Asp322Tyr,ENST00000270776,NM_002631.2;PGD,missense_variant,p.Asp300Tyr,ENST00000541529,;PGD,missense_variant,p.Asp177Tyr,ENST00000483936,;PGD,downstream_gene_variant,,ENST00000460189,;PGD,non_coding_transcript_exon_variant,,ENST00000498356,;PGD,upstream_gene_variant,,ENST00000496718,;PGD,downstream_gene_variant,,ENST00000493288,;							MODERATE	964/1452	D322Y	6PGD_HUMAN			Transcript		benign(0.208)	.	ENSP00000270776		CCDS113.1			1	
MTBP	0	LGGM	GRCh37	8	121467734	121467734	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	53	15	.	.	ENST00000305949.1:c.544G>C	p.Asp182His	p.D182H	ENST00000305949	NM_022045.4	182	Gac/Cac	0	1	1	UPI00000703F0	0	NA	ENST00000305949		ENSG00000172167	7417		68	2.095		HGNC	p.D182H		MTBP		SNV							ENST00000523373	protein_coding	getma.org/?cm=var&var=hg19,8,121467734,G,C&fts=all		Pfam_domain:PF14918,hmmpanther:PTHR14382,hmmpanther:PTHR14382:SF1,Low_complexity_(Seg):seg		D/H		C	medium	589/3059		getma.org/?cm=msa&ty=f&p=MTBP_HUMAN&rb=34&re=902&var=D182H	deleterious(0)				YES	MTBP,missense_variant,p.Asp182His,ENST00000305949,NM_022045.4;MTBP,missense_variant,p.Asp182His,ENST00000523373,;MTBP,upstream_gene_variant,,ENST00000522449,;MTBP,downstream_gene_variant,,ENST00000522308,;MTBP,downstream_gene_variant,,ENST00000456899,;							MODERATE	544/2715	D182H	MTBP_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000303398		CCDS6333.1			1	
VPS13C	0	LGGM	GRCh37	15	62205509	62205509	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	47	16	.	.	ENST00000261517.5:c.8550+1G>C		p.X2850_splice	ENST00000261517	NM_020821.2			0	1	1	UPI000023B7D3	0		ENST00000261517		ENSG00000129003	23594		63			HGNC	-		VPS13C		SNV							ENST00000249837	protein_coding							G		-/13400				B4E2S9_HUMAN,B3KW10_HUMAN			YES	VPS13C,splice_donor_variant,,ENST00000261517,NM_020821.2;VPS13C,splice_donor_variant,,ENST00000249837,NM_017684.4;VPS13C,splice_donor_variant,,ENST00000395896,NM_001018088.2;VPS13C,splice_donor_variant,,ENST00000395898,NM_018080.3;RN7SL613P,upstream_gene_variant,,ENST00000584412,;VPS13C,splice_donor_variant,,ENST00000558338,;							HIGH	8550/11262		VP13C_HUMAN			Transcript			.	ENSP00000261517		CCDS32257.1			1	
MC4R	0	LGGM	GRCh37	18	58039148	58039148	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	38	16	.	.	ENST00000299766.3:c.435G>T	p.Val145=	p.V145=	ENST00000299766	NM_005912.2	145	gtG/gtT	0	1	1	UPI000013E5E3	0		ENST00000299766		ENSG00000166603	6932		54			HGNC	p.V145V		MC4R		SNV			1				ENST00000299766	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF6,PROSITE_patterns:PS00237,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		A		854/1438				K4N7A9_HUMAN,A0N0W8_HUMAN			YES	MC4R,synonymous_variant,p.=,ENST00000299766,NM_005912.2;							LOW	435/999		MC4R_HUMAN			Transcript			.	ENSP00000299766		CCDS11976.1			1	
WFDC9	0	LGGM	GRCh37	20	44237307	44237307	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	47	16	.	.	ENST00000326000.1:c.234C>A	p.Asp78Glu	p.D78E	ENST00000326000	NM_147198.3	78	gaC/gaA	0	1	1	UPI0000138EAD	0		ENST00000326000		ENSG00000180205	20380		63			HGNC	p.D78E		WFDC9		SNV							ENST00000326000	protein_coding			hmmpanther:PTHR19441:SF16,hmmpanther:PTHR19441		D/E		T		452/659			tolerated(0.15)				YES	WFDC9,missense_variant,p.Asp78Glu,ENST00000326000,NM_147198.3;							MODERATE	234/270		WFDC9_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000320532		CCDS13362.1			1	
SWAP70	0	LGGM	GRCh37	11	9715785	9715785	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	48	17	.	.	ENST00000318950.6:c.192G>A	p.Val64=	p.V64=	ENST00000318950	NM_015055.2	64	gtG/gtA	0	1	1	UPI0000073652	0		ENST00000318950		ENSG00000133789	17070		65			HGNC	p.V64V		SWAP70		SNV							ENST00000526358	protein_coding			hmmpanther:PTHR14383,hmmpanther:PTHR14383:SF6,Superfamily_domains:SSF47473		V		A		295/4882				E9PJM7_HUMAN			YES	SWAP70,synonymous_variant,p.=,ENST00000318950,NM_015055.2;SWAP70,synonymous_variant,p.=,ENST00000447399,;SWAP70,synonymous_variant,p.=,ENST00000526358,;SWAP70,non_coding_transcript_exon_variant,,ENST00000524817,;SWAP70,non_coding_transcript_exon_variant,,ENST00000531814,;							LOW	192/1758		SWP70_HUMAN			Transcript			.	ENSP00000315630		CCDS31426.1			1	
DENND4C	0	LGGM	GRCh37	9	19316665	19316665	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	87	17	.	.	ENST00000602925.1:c.1635T>C	p.Ile545=	p.I545=	ENST00000602925	NM_017925.5	545	atT/atC	0	1	1	UPI0000EE421F	0		ENST00000602925		ENSG00000137145	26079		104			HGNC	p.I309I		DENND4C		SNV							ENST00000380437	protein_coding			hmmpanther:PTHR12296,hmmpanther:PTHR12296:SF17		I		C		2051/6831				R4GNB2_HUMAN			YES	DENND4C,synonymous_variant,p.=,ENST00000380432,;DENND4C,synonymous_variant,p.=,ENST00000602925,NM_017925.5;DENND4C,synonymous_variant,p.=,ENST00000434457,;DENND4C,synonymous_variant,p.=,ENST00000494124,;DENND4C,non_coding_transcript_exon_variant,,ENST00000380437,;							LOW	1635/5730					Transcript			.	ENSP00000473565		CCDS6491.3			1	
THAP5	0	LGGM	GRCh37	7	108204984	108204984	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	131	18	.	.	ENST00000415914.3:c.839A>G	p.Asn280Ser	p.N280S	ENST00000415914	NM_001130475.1	280	aAt/aGt	0	1	1	UPI00003E4106	0	NA	ENST00000415914		ENSG00000177683	23188		149	0.11		HGNC	p.N280S		THAP5		SNV							ENST00000415914	protein_coding	getma.org/?cm=var&var=hg19,7,108204984,T,C&fts=all		hmmpanther:PTHR23080,hmmpanther:PTHR23080:SF64		N/S		C	neutral	993/3306		getma.org/?cm=msa&ty=f&p=THAP5_HUMAN&rb=91&re=290&var=N280S	tolerated(0.86)				YES	THAP5,missense_variant,p.Asn280Ser,ENST00000415914,NM_001130475.1;THAP5,missense_variant,p.Asn238Ser,ENST00000313516,NM_182529.3;THAP5,downstream_gene_variant,,ENST00000438865,;THAP5,non_coding_transcript_exon_variant,,ENST00000493722,;PNPLA8,intron_variant,,ENST00000489738,;THAP5,intron_variant,,ENST00000468884,;THAP5,downstream_gene_variant,,ENST00000412935,;THAP5,downstream_gene_variant,,ENST00000446771,;THAP5,downstream_gene_variant,,ENST00000484452,;							MODERATE	839/1188	N280S	THAP5_HUMAN			Transcript		benign(0.007)	.	ENSP00000400500		CCDS47687.1			1	
USP8	0	LGGM	GRCh37	15	50786431	50786431	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	112	23	.	.	ENST00000433963.1:c.2612A>G	p.Glu871Gly	p.E871G	ENST00000433963	NM_001128611.1	871	gAa/gGa	0	1		UPI0000030306	0	getma.org/pdb.php?prot=UBP8_HUMAN&from=774&to=1106&var=E871G	ENST00000307179		ENSG00000138592	12631		135	4.49		HGNC	p.E871G		USP8		SNV			1				ENST00000307179	protein_coding	getma.org/?cm=var&var=hg19,15,50786431,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350,Pfam_domain:PF00443,Superfamily_domains:SSF54001		E/G		G	high	2810/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=774&re=1106&var=E871G	deleterious(0)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Glu871Gly,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Glu871Gly,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Glu871Gly,ENST00000307179,;USP8,missense_variant,p.Glu765Gly,ENST00000425032,NM_001283049.1;RP11-562A8.5,intron_variant,,ENST00000560159,;RP11-562A8.4,downstream_gene_variant,,ENST00000560380,;USP8,non_coding_transcript_exon_variant,,ENST00000419830,;USP8,upstream_gene_variant,,ENST00000560379,;USP8,downstream_gene_variant,,ENST00000561206,;							MODERATE	2612/3357	E871G	UBP8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000302239		CCDS10137.1			1	
USP13	0	LGGM	GRCh37	3	179501853	179501853	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111362	H111362N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	89	27	.	.	ENST00000263966.3:c.2516A>G	p.Asp839Gly	p.D839G	ENST00000263966	NM_003940.2	839	gAc/gGc	0	1	1	UPI000006DC10	0	getma.org/pdb.php?prot=UBP13_HUMAN&from=333&to=858&var=D839G	ENST00000263966		ENSG00000058056	12611		116	3.655		HGNC	p.D774G		USP13		SNV							ENST00000496897	protein_coding	getma.org/?cm=var&var=hg19,3,179501853,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF426,Pfam_domain:PF00443,PIRSF_domain:PIRSF016308,Superfamily_domains:SSF54001		D/G		G	high	2987/8323		getma.org/?cm=msa&ty=f&p=UBP13_HUMAN&rb=333&re=858&var=D839G	deleterious(0)				YES	USP13,missense_variant,p.Asp839Gly,ENST00000263966,NM_003940.2;USP13,missense_variant,p.Asp774Gly,ENST00000496897,;							MODERATE	2516/2592	D839G	UBP13_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263966		CCDS3235.1			1	
FBXW10B	0	LGGM	GRCh37	17	15496676	15496676	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	145	32	.	.	ENST00000395906.3:c.1981C>T	p.Leu661=	p.L661=	ENST00000395906	NM_006382.3	661	Ctg/Ttg	0	1	1	UPI00015D57D8	0		ENST00000395906		ENSG00000241322	14379		177			HGNC	p.L161L		CDRT1		SNV							ENST00000354433	protein_coding			Gene3D:2.130.10.10,hmmpanther:PTHR19872,hmmpanther:PTHR19872:SF7		L		A		1981/2571							YES	CDRT1,synonymous_variant,p.=,ENST00000395906,NM_006382.3;CDRT1,synonymous_variant,p.=,ENST00000354433,;CDRT1,synonymous_variant,p.=,ENST00000472534,;RP11-385D13.1,intron_variant,,ENST00000455584,;CDRT1,intron_variant,,ENST00000583965,;CDRT1,3_prime_UTR_variant,,ENST00000571263,;CDRT1,downstream_gene_variant,,ENST00000475944,;AC005838.2,downstream_gene_variant,,ENST00000430712,;							LOW	1981/2259		CDRT1_HUMAN			Transcript			.	ENSP00000379242		CCDS45619.1			1	
RTCA	0	LGGM	GRCh37	1	100757039	100757039	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111362	H111362N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	44	45	.	.	ENST00000260563.4:c.1119G>A	p.Gly373=	p.G373=	ENST00000260563	NM_001130841.1	373	ggG/ggA	0	1		UPI00001352BF	0		ENST00000370128		ENSG00000137996	17981		89			HGNC	p.G360G		RTCA		SNV							ENST00000370128	protein_coding			hmmpanther:PTHR11096,hmmpanther:PTHR11096:SF0		G		A		1249/2535				B4DSL0_HUMAN,A6NIC1_HUMAN				RTCA,synonymous_variant,p.=,ENST00000370128,NM_003729.3;RTCA,synonymous_variant,p.=,ENST00000260563,NM_001130841.1;							LOW	1080/1101		RTCA_HUMAN			Transcript			.	ENSP00000359146		CCDS768.1			1	
EIF4G3	0	LGGM	GRCh37	1	21226389	21226389	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111362	H111362N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	59	45	.	.	ENST00000602326.1:c.1650A>G	p.Glu550=	p.E550=	ENST00000602326	NM_001198802.1	550	gaA/gaG	0	1		UPI0000070825	0		ENST00000264211		ENSG00000075151	3298		104			HGNC	p.E264E		EIF4G3		SNV							ENST00000374935	protein_coding			hmmpanther:PTHR23253,hmmpanther:PTHR23253:SF23		E		C		1827/5802				F5H564_HUMAN,B1AN91_HUMAN				EIF4G3,synonymous_variant,p.=,ENST00000602326,NM_001198802.1;EIF4G3,synonymous_variant,p.=,ENST00000400422,NM_001198801.1;EIF4G3,synonymous_variant,p.=,ENST00000264211,NM_003760.4;EIF4G3,synonymous_variant,p.=,ENST00000374937,;EIF4G3,synonymous_variant,p.=,ENST00000374935,;EIF4G3,synonymous_variant,p.=,ENST00000536266,;EIF4G3,synonymous_variant,p.=,ENST00000544689,;EIF4G3,5_prime_UTR_variant,,ENST00000537738,;EIF4G3,non_coding_transcript_exon_variant,,ENST00000374933,;EIF4G3,non_coding_transcript_exon_variant,,ENST00000496705,;							LOW	1632/4758		IF4G3_HUMAN			Transcript			.	ENSP00000264211		CCDS214.1			1	
ZNF578	0	LGGM	GRCh37	19	53014938	53014938	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111362	H111362N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111362N.bam, H111362T.bam	Illumina HiSeq	95	53	.	.	ENST00000421239.2:c.1304C>G	p.Ala435Gly	p.A435G	ENST00000421239	NM_001099694.1	435	gCt/gGt	0	1	1	UPI000048A457	0	getma.org/pdb.php?prot=ZN578_HUMAN&from=188&to=213&var=A210G	ENST00000421239		ENSG00000258405	26449		148	0.875		HGNC	p.A435G		ZNF578		SNV							ENST00000421239	protein_coding	getma.org/?cm=var&var=hg19,19,53014938,C,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/G		G	low	1548/2017		getma.org/?cm=msa&ty=f&p=ZN578_HUMAN&rb=168&re=233&var=A210G	tolerated(0.08)	M0QZV4_HUMAN			YES	ZNF578,missense_variant,p.Ala435Gly,ENST00000421239,NM_001099694.1;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;							MODERATE	1304/1773	A210G	ZN578_HUMAN			Transcript		benign(0.21)	.	ENSP00000459216		CCDS54310.1			1	
C18orf25	0	LGGM	GRCh37	18	43842899	43842899	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	29	3	.	.	ENST00000282059.6:c.1030C>A	p.His344Asn	p.H344N	ENST00000282059	NM_145055.3	344	Cat/Aat	0	1	1	UPI000013DCB6	0	NA	ENST00000282059		ENSG00000152242	28172		32	1.5		HGNC	p.H344N		C18orf25		SNV							ENST00000282059	protein_coding	getma.org/?cm=var&var=hg19,18,43842899,C,A&fts=all		hmmpanther:PTHR13644		H/N		A	low	1404/5454		getma.org/?cm=msa&ty=f&p=CR025_HUMAN&rb=1&re=401&var=H344N		Q5BIX2_HUMAN,K7ER64_HUMAN,K7EQH1_HUMAN			YES	C18orf25,missense_variant,p.His344Asn,ENST00000282059,NM_145055.3;C18orf25,missense_variant,p.His283Asn,ENST00000321319,NM_001008239.2;							MODERATE	1030/1212	H344N	CR025_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000282059		CCDS42430.1			1	
LRIG1	0	LGGM	GRCh37	3	66433787	66433787	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	35	3	.	.	ENST00000273261.3:c.2110G>A	p.Val704Ile	p.V704I	ENST00000273261	NM_015541.2	704	Gta/Ata	0	1	1	UPI000004C5BE	0	getma.org/pdb.php?prot=LRIG1_HUMAN&from=693&to=780&var=V704I	ENST00000273261		ENSG00000144749	17360		38	1.735		HGNC	p.V681I	rs770909613	LRIG1		SNV							ENST00000383703	protein_coding	getma.org/?cm=var&var=hg19,3,66433787,C,T&fts=all		Superfamily_domains:SSF48726,SMART_domains:SM00409,Gene3D:2.60.40.10,Pfam_domain:PF07679,hmmpanther:PTHR24367:SF245,hmmpanther:PTHR24367,PROSITE_profiles:PS50835		V/I		T	low	2635/5273	1.56E-05	getma.org/?cm=msa&ty=f&p=LRIG1_HUMAN&rb=693&re=780&var=V704I	tolerated(0.06)				YES	LRIG1,missense_variant,p.Val681Ile,ENST00000383703,;LRIG1,missense_variant,p.Val704Ile,ENST00000273261,NM_015541.2;SLC25A26,intron_variant,,ENST00000536651,;SLC25A26,downstream_gene_variant,,ENST00000354883,NM_173471.3_dupl9;LRIG1,non_coding_transcript_exon_variant,,ENST00000496559,;LRIG1,non_coding_transcript_exon_variant,,ENST00000495037,;SLC25A26,intron_variant,,ENST00000464350,;SLC25A26,downstream_gene_variant,,ENST00000483224,;							MODERATE	2110/3282	V704I	LRIG1_HUMAN			Transcript		benign(0.395)	.	ENSP00000273261	8.25E-06	CCDS33783.1			1	
PAFAH1B2	0	LGGM	GRCh37	11	117023199	117023199	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	46	3	.	.	ENST00000527958.1:c.36G>A	p.Pro12=	p.P12=	ENST00000527958	NM_002572.3	12	ccG/ccA	0	1	1	UPI00001117F4	0		ENST00000527958		ENSG00000168092	8575		49			HGNC	p.P12P		PAFAH1B2		SNV							ENST00000527958	protein_coding			Gene3D:3.40.50.1110,hmmpanther:PTHR11852,Superfamily_domains:SSF52266		P		A		195/4195							YES	PAFAH1B2,synonymous_variant,p.=,ENST00000527958,NM_002572.3;PAFAH1B2,synonymous_variant,p.=,ENST00000419197,NM_001184748.1;PAFAH1B2,synonymous_variant,p.=,ENST00000529887,NM_001184747.1;PAFAH1B2,synonymous_variant,p.=,ENST00000530272,NM_001184746.1;PAFAH1B2,intron_variant,,ENST00000304808,;PAFAH1B2,intron_variant,,ENST00000526888,;PAFAH1B2,non_coding_transcript_exon_variant,,ENST00000533206,;							LOW	36/690		PA1B2_HUMAN			Transcript			.	ENSP00000435289		CCDS8380.1			1	
RP11-863K10.7	0	LGGM	GRCh37	8	37593486	37593486	+	frameshift_variant	Frame_Shift_Del	DEL	G	G	-	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	7	3	.	.	ENST00000330539.1:c.530del	p.Ser177PhefsTer21	p.S177Ffs*21	ENST00000330539		177	tCt/tt	0	1	1	UPI000049E0BB	0		ENST00000330539		ENSG00000183154			10			Clone_based_vega_gene	p.S177fs		RP11-863K10.7		deletion							ENST00000330539	protein_coding			hmmpanther:PTHR16213:SF46,hmmpanther:PTHR16213		S/X		-		879/2086				B7WP66_HUMAN			YES	RP11-863K10.7,frameshift_variant,p.Ser177PhefsTer21,ENST00000330539,;ERLIN2,upstream_gene_variant,,ENST00000276461,NM_007175.6;ERLIN2,upstream_gene_variant,,ENST00000518586,;ERLIN2,upstream_gene_variant,,ENST00000523887,;ERLIN2,upstream_gene_variant,,ENST00000335171,NM_001003790.3;ERLIN2,upstream_gene_variant,,ENST00000519638,;ERLIN2,upstream_gene_variant,,ENST00000521644,;ERLIN2,upstream_gene_variant,,ENST00000397228,NM_001003791.2;ERLIN2,upstream_gene_variant,,ENST00000523107,;ERLIN2,upstream_gene_variant,,ENST00000518526,;RP11-863K10.2,downstream_gene_variant,,ENST00000523507,;ERLIN2,upstream_gene_variant,,ENST00000521993,;ERLIN2,upstream_gene_variant,,ENST00000519872,;							HIGH	530/618					Transcript			.	ENSP00000328874					1	
LGSN	0	LGGM	GRCh37	6	63990493	63990493	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	46	4	.	.	ENST00000370657.4:c.963C>A	p.Val321=	p.V321=	ENST00000370657		321	gtC/gtA	0	1	1	UPI000013DA35	0		ENST00000370657		ENSG00000146166	21016		50			HGNC	p.S181X		LGSN		SNV							ENST00000370658	protein_coding			Superfamily_domains:SSF55931,Gene3D:3.30.590.10,Pfam_domain:PF00120,hmmpanther:PTHR20852,hmmpanther:PTHR20852:SF7		V		T		997/1949							YES	LGSN,stop_gained,p.Ser181Ter,ENST00000370658,NM_016571.2,NM_001143940.1;LGSN,synonymous_variant,p.=,ENST00000370657,;LGSN,intron_variant,,ENST00000485906,;							LOW	963/1530		LGSN_HUMAN			Transcript			.	ENSP00000359691		CCDS4964.1			1	
TLE3	0	LGGM	GRCh37	15	70352875	70352875	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	77	4	.	.	ENST00000558939.1:c.708C>T	p.Ser236=	p.S236=	ENST00000558939	NM_001282979.1	236	agC/agT	0	1	1	UPI000013703A	0		ENST00000558939		ENSG00000140332	11839		81			HGNC	p.S236S		TLE3		SNV							ENST00000451782	protein_coding			hmmpanther:PTHR10814		S		A		2086/6004				H0YNT2_HUMAN			YES	TLE3,synonymous_variant,p.=,ENST00000558939,NM_001282979.1;TLE3,synonymous_variant,p.=,ENST00000442299,;TLE3,synonymous_variant,p.=,ENST00000317509,NM_005078.2,NM_001105192.1,NM_020908.1;TLE3,synonymous_variant,p.=,ENST00000557997,;TLE3,synonymous_variant,p.=,ENST00000560589,;TLE3,synonymous_variant,p.=,ENST00000559929,;TLE3,synonymous_variant,p.=,ENST00000560939,;TLE3,synonymous_variant,p.=,ENST00000559048,;TLE3,synonymous_variant,p.=,ENST00000558201,;TLE3,synonymous_variant,p.=,ENST00000440567,NM_001282981.1;TLE3,synonymous_variant,p.=,ENST00000539550,;TLE3,synonymous_variant,p.=,ENST00000451782,;TLE3,synonymous_variant,p.=,ENST00000558379,NM_001282980.1;TLE3,synonymous_variant,p.=,ENST00000557907,;TLE3,intron_variant,,ENST00000559191,;TLE3,synonymous_variant,p.=,ENST00000557919,;TLE3,synonymous_variant,p.=,ENST00000561453,;TLE3,synonymous_variant,p.=,ENST00000560525,;TLE3,upstream_gene_variant,,ENST00000557815,;TLE3,upstream_gene_variant,,ENST00000559826,;							LOW	708/2319		TLE3_HUMAN			Transcript			.	ENSP00000452871		CCDS45293.1			1	
AC024940.1	0	LGGM	GRCh37	12	31478059	31478059	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	2	4	.	.	ENST00000313737.4:c.282C>T	p.Ser94=	p.S94=	ENST00000313737		94	tcC/tcT	0	1	1	UPI000013F617	0		ENST00000313737		ENSG00000177340			6			Clone_based_ensembl_gene	p.S94S		AC024940.1		SNV							ENST00000313737	protein_coding					S		T		810/1630							YES	AC024940.1,synonymous_variant,p.=,ENST00000313737,;FAM60A,intron_variant,,ENST00000337682,NM_001135812.1;FAM60A,intron_variant,,ENST00000539409,;FAM60A,intron_variant,,ENST00000395766,NM_001135811.1,NM_021238.2;FAM60A,intron_variant,,ENST00000542983,;FAM60A,intron_variant,,ENST00000543615,;FAM60A,intron_variant,,ENST00000539004,;FAM60A,upstream_gene_variant,,ENST00000454658,;FAM60A,intron_variant,,ENST00000536836,;							LOW	282/480					Transcript			.	ENSP00000324000					1	
ZNF324	0	LGGM	GRCh37	19	58983418	58983418	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	16	4	.	.	ENST00000536459.2:c.1559C>A	p.Ala520Asp	p.A520D	ENST00000536459		520	gCc/gAc	0	1		UPI000013C359	0	NA	ENST00000196482		ENSG00000083812	14096		20	0		HGNC	p.A520D		ZNF324		SNV							ENST00000536459	protein_coding	getma.org/?cm=var&var=hg19,19,58983418,C,A&fts=all				A/D		A	neutral	1653/3000		getma.org/?cm=msa&ty=f&p=Z324A_HUMAN&rb=520&re=551&var=A520D	deleterious_low_confidence(0.02)	F5H1K2_HUMAN				ZNF324,missense_variant,p.Ala520Asp,ENST00000536459,;ZNF324,missense_variant,p.Ala520Asp,ENST00000196482,NM_014347.2;ZNF324,missense_variant,p.Ala297Asp,ENST00000535298,;ZNF324,missense_variant,p.Ala379Asp,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,;							MODERATE	1559/1662	A520D	Z324A_HUMAN			Transcript		benign(0.08)	.	ENSP00000196482		CCDS12981.1			1	
ZDHHC11	0	LGGM	GRCh37	5	840573	840573	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	28	4	.	.	ENST00000283441.8:c.784+37G>T		*262*	ENST00000283441	NM_024786.2			0	1	1	UPI000013C384	0		ENST00000283441		ENSG00000188818	19158		32			HGNC	p.G61V		ZDHHC11		SNV							ENST00000511539	protein_coding							A		-/2604							YES	ZDHHC11,missense_variant,p.Gly61Val,ENST00000511539,;ZDHHC11,intron_variant,,ENST00000283441,NM_024786.2;ZDHHC11,intron_variant,,ENST00000424784,;ZDHHC11,intron_variant,,ENST00000511193,;ZDHHC11,intron_variant,,ENST00000503758,;ZDHHC11,intron_variant,,ENST00000508951,;ZDHHC11,intron_variant,,ENST00000507800,;ZDHHC11,downstream_gene_variant,,ENST00000503880,;ZDHHC11,downstream_gene_variant,,ENST00000505815,;ZDHHC11,downstream_gene_variant,,ENST00000512190,;							MODIFIER	-/1239		ZDH11_HUMAN			Transcript			.	ENSP00000283441		CCDS3857.1			1	
KLHL22	0	LGGM	GRCh37	22	20844089	20844089	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	9	4	.	.	ENST00000328879.4:c.-33-558G>A		*11*	ENST00000328879	NM_032775.3			0	1	1	UPI0000072F37	0		ENST00000328879		ENSG00000099910	25888		13			HGNC	p.R10K		KLHL22		SNV							ENST00000444967	protein_coding							T		-/2616				C9J2T1_HUMAN,C9J191_HUMAN,B7Z2G1_HUMAN			YES	KLHL22,missense_variant,p.Arg10Lys,ENST00000444967,;KLHL22,missense_variant,p.Arg10Lys,ENST00000423364,;KLHL22,intron_variant,,ENST00000328879,NM_032775.3;KLHL22,intron_variant,,ENST00000440659,;KLHL22,intron_variant,,ENST00000443285,;KLHL22,intron_variant,,ENST00000458248,;KLHL22,intron_variant,,ENST00000451553,;KLHL22,intron_variant,,ENST00000431430,;KLHL22,intron_variant,,ENST00000470335,;KLHL22,intron_variant,,ENST00000490556,;KLHL22,intron_variant,,ENST00000494929,;KLHL22,intron_variant,,ENST00000479601,;							MODIFIER	-/1905		KLH22_HUMAN			Transcript			.	ENSP00000331682		CCDS13780.1			1	
MEI1	0	LGGM	GRCh37	22	42140988	42140988	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	15	4	.	.	ENST00000401548.3:c.1458C>T	p.Ser486=	p.S486=	ENST00000401548	NM_152513.3	486	tcC/tcT	0	1	1	UPI00006E232C	0		ENST00000401548		ENSG00000167077	28613		19			HGNC	p.S486S		MEI1		SNV							ENST00000401548	protein_coding			hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10		S		T		1498/4020							YES	MEI1,synonymous_variant,p.=,ENST00000401548,NM_152513.3;MEI1,synonymous_variant,p.=,ENST00000540833,;MEI1,5_prime_UTR_variant,,ENST00000400107,;MEI1,5_prime_UTR_variant,,ENST00000300398,;Y_RNA,upstream_gene_variant,,ENST00000384086,;							LOW	1458/3825		MEI1_HUMAN			Transcript			.	ENSP00000384115		CCDS46718.1			1	
TMPRSS3	0	LGGM	GRCh37	21	43803146	43803146	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	12	5	.	.	ENST00000291532.3:c.778T>A	p.Tyr260Asn	p.Y260N	ENST00000291532	NM_032404.2	260	Tat/Aat	0	1	1	UPI0000047B13	0	getma.org/pdb.php?prot=TMPS3_HUMAN&from=217&to=444&var=Y260N	ENST00000291532		ENSG00000160183	11877		17	0.16		HGNC	p.Y260N		TMPRSS3		SNV			1				ENST00000398397	protein_coding	getma.org/?cm=var&var=hg19,21,43803146,A,T&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF42,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		Y/N		T	neutral	1734/3193		getma.org/?cm=msa&ty=f&p=TMPS3_HUMAN&rb=217&re=444&var=Y260N	tolerated(0.29)				YES	TMPRSS3,missense_variant,p.Tyr260Asn,ENST00000291532,NM_032404.2;TMPRSS3,missense_variant,p.Tyr344Asn,ENST00000380399,;TMPRSS3,missense_variant,p.Tyr258Asn,ENST00000398405,;TMPRSS3,missense_variant,p.Tyr260Asn,ENST00000433957,NM_001256317.1,NM_024022.2;TMPRSS3,missense_variant,p.Tyr260Asn,ENST00000398397,NM_032405.1;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000474596,;TMPRSS3,upstream_gene_variant,,ENST00000478680,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000476848,;TMPRSS3,non_coding_transcript_exon_variant,,ENST00000482761,;							MODERATE	778/1365	Y260N	TMPS3_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000291532		CCDS13686.1			1	
SEMA5A	0	LGGM	GRCh37	5	9108320	9108320	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	25	5	.	.	ENST00000382496.5:c.2005T>G	p.Cys669Gly	p.C669G	ENST00000382496	NM_003966.2	669	Tgc/Ggc	0	1	1	UPI000004F25D	0	getma.org/pdb.php?prot=SEM5A_HUMAN&from=657&to=701&var=C669G	ENST00000382496		ENSG00000112902	10736		30	4.14		HGNC	p.C669G		SEMA5A		SNV			1				ENST00000382496	protein_coding	getma.org/?cm=var&var=hg19,5,9108320,A,C&fts=all		PROSITE_profiles:PS50092,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78,Pfam_domain:PF00090,Gene3D:2.20.100.10,SMART_domains:SM00209,Superfamily_domains:SSF82895		C/G		C	high	2671/11762		getma.org/?cm=msa&ty=f&p=SEM5A_HUMAN&rb=657&re=701&var=C669G	deleterious(0.04)	D6RAF4_HUMAN,B4DE33_HUMAN			YES	SEMA5A,missense_variant,p.Cys669Gly,ENST00000382496,NM_003966.2;							MODERATE	2005/3225	C669G	SEM5A_HUMAN			Transcript		possibly_damaging(0.785)	.	ENSP00000371936		CCDS3875.1			1	
ERBB4	0	LGGM	GRCh37	2	212812239	212812239	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	39	5	.	.	ENST00000342788.4:c.337G>A	p.Asp113Asn	p.D113N	ENST00000342788	NM_005235.2	113	Gat/Aat	0	1	1	UPI00000499DF	0	getma.org/pdb.php?prot=ERBB4_HUMAN&from=55&to=167&var=D113N	ENST00000342788		ENSG00000178568	3432		44	0.715		HGNC	p.D54N	COSM3577367,COSM3577368	ERBB4		SNV			1			1,1	ENST00000435846	protein_coding	getma.org/?cm=var&var=hg19,2,212812239,C,T&fts=all		Gene3D:3.80.20.20,Pfam_domain:PF01030,PIRSF_domain:PIRSF000619,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,Superfamily_domains:SSF52058		D/N		T	neutral	648/12132		getma.org/?cm=msa&ty=f&p=ERBB4_HUMAN&rb=55&re=167&var=D113N	tolerated(0.54)	Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,missense_variant,p.Asp113Asn,ENST00000342788,NM_005235.2;ERBB4,missense_variant,p.Asp113Asn,ENST00000436443,NM_001042599.1;ERBB4,missense_variant,p.Asp113Asn,ENST00000402597,;ERBB4,missense_variant,p.Asp113Asn,ENST00000260943,;ERBB4,missense_variant,p.Asp54Asn,ENST00000435846,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484474,;ERBB4,non_coding_transcript_exon_variant,,ENST00000484594,;					1,1		MODERATE	337/3927	D113N	ERBB4_HUMAN			Transcript		benign(0.007)	.	ENSP00000342235		CCDS2394.1			1	
HNRNPH1	0	LGGM	GRCh37	5	179050047	179050047	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	14	5	.	.	ENST00000356731.5:c.88T>C	p.Phe30Leu	p.F30L	ENST00000356731		30	Ttt/Ctt	0	1	1	UPI0000000C2B	0	getma.org/pdb.php?prot=HNRH1_HUMAN&from=13&to=84&var=F30L	ENST00000356731		ENSG00000169045	5041		19	2.36		HGNC	p.F30L		HNRNPH1		SNV			1				ENST00000512273	protein_coding	getma.org/?cm=var&var=hg19,5,179050047,A,G&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF14259,PROSITE_profiles:PS50102,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF33,SMART_domains:SM00360,Superfamily_domains:SSF54928		F/L		G	medium	1624/3667		getma.org/?cm=msa&ty=f&p=HNRH1_HUMAN&rb=13&re=84&var=F30L	deleterious(0)	Q68DG4_HUMAN,E7EQJ0_HUMAN,E5RJ94_HUMAN,E5RGH4_HUMAN,D6RIU0_HUMAN,D6RFM3_HUMAN,D6RF17_HUMAN,D6RDL0_HUMAN,D6RBM0_HUMAN,D6RAM1_HUMAN			YES	HNRNPH1,missense_variant,p.Phe30Leu,ENST00000356731,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000393432,NM_001257293.1;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000442819,NM_005520.2;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000329433,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000510411,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000523137,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000505811,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000515158,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000521116,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000513225,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000515714,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000510431,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000508103,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000506721,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000504348,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000503664,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000503105,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000519056,;HNRNPH1,upstream_gene_variant,,ENST00000521173,;HNRNPH1,upstream_gene_variant,,ENST00000523921,;HNRNPH1,upstream_gene_variant,,ENST00000521790,;HNRNPH1,downstream_gene_variant,,ENST00000522256,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000524180,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000519455,;HNRNPH1,upstream_gene_variant,,ENST00000518548,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000510678,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000504779,;HNRNPH1,missense_variant,p.Phe30Leu,ENST00000512273,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514332,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000514731,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000513972,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000505087,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000519707,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000515446,;HNRNPH1,non_coding_transcript_exon_variant,,ENST00000513230,;HNRNPH1,upstream_gene_variant,,ENST00000515481,;HNRNPH1,upstream_gene_variant,,ENST00000502904,;HNRNPH1,upstream_gene_variant,,ENST00000502632,;HNRNPH1,upstream_gene_variant,,ENST00000504549,;HNRNPH1,upstream_gene_variant,,ENST00000519958,;HNRNPH1,upstream_gene_variant,,ENST00000519943,;HNRNPH1,upstream_gene_variant,,ENST00000520415,;HNRNPH1,upstream_gene_variant,,ENST00000522958,;							MODERATE	88/1350	F30L	HNRH1_HUMAN			Transcript		benign(0.398)	.	ENSP00000349168		CCDS4446.1			1	
TBKBP1	0	LGGM	GRCh37	17	45785823	45785823	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	12	5	.	.	ENST00000361722.3:c.936T>C	p.Ser312=	p.S312=	ENST00000361722	NM_014726.2	312	agT/agC	0	1	1	UPI000006E6FC	0		ENST00000361722		ENSG00000198933	30140		17			HGNC	p.S312S		TBKBP1		SNV							ENST00000361722	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR14432:SF2,hmmpanther:PTHR14432,Pfam_domain:PF12845		S		C		1785/4121				J3KS71_HUMAN,F5H1U4_HUMAN			YES	TBKBP1,synonymous_variant,p.=,ENST00000361722,NM_014726.2;							LOW	936/1848		TBKB1_HUMAN			Transcript			.	ENSP00000354777		CCDS45722.1			1	
ERMP1	0	LGGM	GRCh37	9	5787155	5787155	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	24	5	.	.	ENST00000339450.5:c.2704T>C	p.Phe902Leu	p.F902L	ENST00000339450	NM_024896.2	902	Ttt/Ctt	0	1	1	UPI00001D7694	0	NA	ENST00000339450		ENSG00000099219	23703		29	1.445		HGNC	p.F902L		ERMP1		SNV							ENST00000462592	protein_coding	getma.org/?cm=var&var=hg19,9,5787155,A,G&fts=all		hmmpanther:PTHR12147,hmmpanther:PTHR12147:SF6		F/L		G	low	2794/5376		getma.org/?cm=msa&ty=f&p=ERMP1_HUMAN&rb=770&re=904&var=F902L	deleterious(0.01)	D3DRI3_HUMAN			YES	ERMP1,missense_variant,p.Phe902Leu,ENST00000339450,NM_024896.2;ERMP1,3_prime_UTR_variant,,ENST00000381506,;ERMP1,3_prime_UTR_variant,,ENST00000543230,;ERMP1,non_coding_transcript_exon_variant,,ENST00000214893,;ERMP1,missense_variant,p.Phe902Leu,ENST00000462592,;ERMP1,3_prime_UTR_variant,,ENST00000489219,;ERMP1,3_prime_UTR_variant,,ENST00000487088,;							MODERATE	2704/2715	F902L	ERMP1_HUMAN			Transcript		benign(0.097)	.	ENSP00000340427		CCDS34983.1			1	
C4orf50	0	LGGM	GRCh37	4	5961321	5961321	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	11	6	.	.	ENST00000531445.1:c.2034T>C	p.Pro678=	p.P678=	ENST00000531445		678	ccT/ccC	0	1		UPI00001C0FBD	0		ENST00000324058		ENSG00000181215	33766	8.68E-05	17			HGNC	p.P204P	rs773623460	C4orf50		SNV							ENST00000324058	protein_coding			Pfam_domain:PF15030		P		G		702/3178	1.50E-05							C4orf50,synonymous_variant,p.=,ENST00000531445,;C4orf50,synonymous_variant,p.=,ENST00000324058,;							LOW	612/831		CD050_HUMAN			Transcript			.	ENSP00000317287	1.65E-05				1	
CALN1	0	LGGM	GRCh37	7	71571152	71571152	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	12	6	.	.	ENST00000395275.2:c.372G>T	p.Gln124His	p.Q124H	ENST00000395275	NM_031468.3	124	caG/caT	0	1		UPI0000127AD6	0	getma.org/pdb.php?prot=CABP8_HUMAN&from=40&to=101&var=Q82H	ENST00000329008		ENSG00000183166	13248		18	1.255		HGNC	p.Q82H		CALN1		SNV							ENST00000329008	protein_coding	getma.org/?cm=var&var=hg19,7,71571152,C,A&fts=all		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		Q/H		A	low	545/9243		getma.org/?cm=msa&ty=f&p=CABP8_HUMAN&rb=40&re=101&var=Q82H	deleterious(0)	Q86UM7_HUMAN,Q86UL5_HUMAN,Q75MW5_HUMAN,Q75MP5_HUMAN,Q75MI2_HUMAN,E9PFU3_HUMAN,A4D1Z1_HUMAN				CALN1,missense_variant,p.Gln124His,ENST00000395275,NM_031468.3;CALN1,missense_variant,p.Gln82His,ENST00000329008,NM_001017440.2;CALN1,missense_variant,p.Gln82His,ENST00000395276,;CALN1,missense_variant,p.Gln124His,ENST00000412588,;CALN1,missense_variant,p.Gln82His,ENST00000431984,;CALN1,missense_variant,p.Gln82His,ENST00000405452,;CALN1,missense_variant,p.Gln82His,ENST00000446128,;ABCF2P2,downstream_gene_variant,,ENST00000450549,;							MODERATE	246/660	Q82H	CABP8_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000332498		CCDS5541.1			1	
PCDHGC5	0	LGGM	GRCh37	5	140870609	140870609	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	32	7	.	.	ENST00000252087.1:c.1802A>G	p.His601Arg	p.H601R	ENST00000252087	NM_018929.2	601	cAc/cGc	0	1	1	UPI000006D689	0	getma.org/pdb.php?prot=PCDGM_HUMAN&from=577&to=667&var=H601R	ENST00000252087		ENSG00000240764	8718		39	1.19		HGNC	p.H601R		PCDHGC5		SNV							ENST00000252087	protein_coding	getma.org/?cm=var&var=hg19,5,140870609,A,G&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF80,SMART_domains:SM00112,Superfamily_domains:SSF49313		H/R		G	low	1802/4641		getma.org/?cm=msa&ty=f&p=PCDGM_HUMAN&rb=577&re=667&var=H601R	deleterious(0.05)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGC5,missense_variant,p.His601Arg,ENST00000252087,NM_018929.2,NM_032403.2,NM_032407.1;PCDHGA12,intron_variant,,ENST00000252085,NM_003735.2,NM_032094.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;PCDHGC3,intron_variant,,ENST00000308177,NM_002588.2,NM_032402.1;PCDHGC4,intron_variant,,ENST00000306593,NM_018928.2,NM_032406.1;PCDHGA10,intron_variant,,ENST00000398610,NM_018913.2,NM_032090.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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,;							MODERATE	1802/2835	H601R	PCDGM_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000252087		CCDS4263.1			1	
TAS2R39	0	LGGM	GRCh37	7	142881341	142881341	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	127	7	.	.	ENST00000446620.1:c.830C>T	p.Ala277Val	p.A277V	ENST00000446620	NM_176881.2	277	gCt/gTt	0	1	1	UPI00000620BE	0	NA	ENST00000446620		ENSG00000236398	18886	8.69E-05	134	1.95		HGNC	p.A277V	rs745326029	TAS2R39		SNV							ENST00000446620	protein_coding	getma.org/?cm=var&var=hg19,7,142881341,C,T&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF40,hmmpanther:PTHR11394		A/V		T	medium	830/1017		getma.org/?cm=msa&ty=f&p=T2R39_HUMAN&rb=29&re=330&var=A277V	tolerated(0.07)	Q50KL2_HUMAN			YES	TAS2R39,missense_variant,p.Ala277Val,ENST00000446620,NM_176881.2;							MODERATE	830/1017	A277V	T2R39_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000405095	8.27E-06	CCDS47729.1			1	
GMIP	0	LGGM	GRCh37	19	19750894	19750894	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	8	7	.	.	ENST00000203556.4:c.537G>A	p.Gln179=	p.Q179=	ENST00000203556	NM_016573.2	179	caG/caA	0	1	1	UPI0000203862	0		ENST00000203556		ENSG00000089639	24852		15			HGNC	p.Q179Q		GMIP		SNV							ENST00000587238	protein_coding			hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16,Superfamily_domains:SSF103657		Q		T		675/3538				K7EQR5_HUMAN			YES	GMIP,splice_region_variant,p.=,ENST00000203556,NM_016573.2;GMIP,splice_region_variant,p.=,ENST00000445806,;GMIP,splice_region_variant,p.=,ENST00000587238,;GMIP,upstream_gene_variant,,ENST00000593186,;GMIP,downstream_gene_variant,,ENST00000587205,;GMIP,upstream_gene_variant,,ENST00000586269,;GMIP,splice_region_variant,,ENST00000588171,;GMIP,splice_region_variant,,ENST00000591047,;GMIP,upstream_gene_variant,,ENST00000587713,;							LOW	537/2913		GMIP_HUMAN			Transcript			.	ENSP00000203556		CCDS12408.1			1	
FAM19A4	0	LGGM	GRCh37	3	68802043	68802043	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	24	7	.	.	ENST00000295569.7:c.257C>A	p.Thr86Lys	p.T86K	ENST00000295569	NM_182522.4	86	aCa/aAa	0	1	1	UPI0000071129	0	NA	ENST00000295569		ENSG00000163377	21591		31	2.61		HGNC	p.T86K		FAM19A4		SNV							ENST00000295569	protein_coding	getma.org/?cm=var&var=hg19,3,68802043,G,T&fts=all		hmmpanther:PTHR31770:SF1,hmmpanther:PTHR31770,Pfam_domain:PF12020		T/K		T	medium	750/2292		getma.org/?cm=msa&ty=f&p=F19A4_HUMAN&rb=49&re=138&var=T86K	deleterious(0)	C9JUW7_HUMAN			YES	FAM19A4,missense_variant,p.Thr86Lys,ENST00000295569,NM_182522.4,NM_001005527.2;FAM19A4,downstream_gene_variant,,ENST00000495737,;							MODERATE	257/423	T86K	F19A4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295569		CCDS2907.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144931045	144931045	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	59	8	.	.	ENST00000369356.4:c.637-7224G>A		*213*	ENST00000369356	NM_014644.5			0	1		UPI0000251FAA	0	NA	ENST00000369354		ENSG00000178104	15580		67	0.755		HGNC	p.A222T		PDE4DIP		SNV							ENST00000313431	protein_coding	getma.org/?cm=var&var=hg19,1,144931045,C,T&fts=all						T	neutral	-/8262		getma.org/?cm=msa&ty=f&p=E9PL24_HUMAN&rb=1&re=1106&var=A222T		I1VE15_HUMAN				PDE4DIP,missense_variant,p.Ala222Thr,ENST00000529945,;PDE4DIP,missense_variant,p.Ala222Thr,ENST00000313431,NM_001002811.2;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000369354,;PDE4DIP,intron_variant,,ENST00000313382,NM_001198832.2;PDE4DIP,intron_variant,,ENST00000369351,;PDE4DIP,intron_variant,,ENST00000369349,NM_001002812.2;PDE4DIP,intron_variant,,ENST00000479408,;PDE4DIP,intron_variant,,ENST00000532801,;							MODIFIER	-/7041	A222T	MYOME_HUMAN			Transcript			.	ENSP00000358360		CCDS30824.1			1	
MYO3A	0	LGGM	GRCh37	10	26442807	26442807	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	34	8	.	.	ENST00000265944.5:c.2664T>C	p.Asn888=	p.N888=	ENST00000265944	NM_017433.4	888	aaT/aaC	0	1	1	UPI000014140A	0		ENST00000265944		ENSG00000095777	7601		42			HGNC	p.N888N	rs558706742	MYO3A		SNV			1				ENST00000265944	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		N		C		2830/5581							YES	MYO3A,synonymous_variant,p.=,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;							LOW	2664/4851		MYO3A_HUMAN			Transcript			.	ENSP00000265944		CCDS7148.1			1	
SCAF11	0	LGGM	GRCh37	12	46316283	46316283	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	48	8	.	.	ENST00000369367.3:c.4208A>T	p.Glu1403Val	p.E1403V	ENST00000369367	NM_004719.2	1403	gAa/gTa	0	1	1	UPI0000D481F2	0	NA	ENST00000369367		ENSG00000139218	10784		56	2.045		HGNC	p.E1211V		SCAF11		SNV							ENST00000549162	protein_coding	getma.org/?cm=var&var=hg19,12,46316283,T,A&fts=all		hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF3		E/V		A	medium	4442/5265		getma.org/?cm=msa&ty=f&p=SCAFB_HUMAN&rb=694&re=1461&var=E1403V	deleterious(0)	F8VXG7_HUMAN			YES	SCAF11,missense_variant,p.Glu1088Val,ENST00000465950,;SCAF11,missense_variant,p.Glu1403Val,ENST00000369367,NM_004719.2;SCAF11,missense_variant,p.Glu1403Val,ENST00000419565,;SCAF11,missense_variant,p.Glu1211Val,ENST00000549162,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550629,;SCAF11,non_coding_transcript_exon_variant,,ENST00000547654,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550893,;SCAF11,downstream_gene_variant,,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000547950,;							MODERATE	4208/4392	E1403V	SCAFB_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000358374		CCDS8748.2			1	
PGC	0	LGGM	GRCh37	6	41710165	41710165	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	37	8	.	.	ENST00000373025.3:c.510C>T	p.Asn170=	p.N170=	ENST00000373025	NM_002630.3	170	aaC/aaT	0	1	1	UPI00001315CC	0		ENST00000373025		ENSG00000096088	8890		45			HGNC	p.N170N		PGC		SNV							ENST00000373025	protein_coding			hmmpanther:PTHR13683:SF242,hmmpanther:PTHR13683,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630		N		A		573/1371							YES	PGC,synonymous_variant,p.=,ENST00000373025,NM_002630.3;PGC,synonymous_variant,p.=,ENST00000425343,NM_001166424.1;PGC,synonymous_variant,p.=,ENST00000356667,;PGC,downstream_gene_variant,,ENST00000415707,;							LOW	510/1167		PEPC_HUMAN			Transcript			.	ENSP00000362116		CCDS4859.1			1	
CNTN1	0	LGGM	GRCh37	12	41352969	41352969	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	29	8	.	.	ENST00000551295.2:c.1737A>T	p.Gly579=	p.G579=	ENST00000551295	NM_001843.3	579	ggA/ggT	0	1		UPI0000127EBA	0		ENST00000347616		ENSG00000018236	2171		37			HGNC	p.G568G		CNTN1		SNV			1				ENST00000348761	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF531,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		G		T		1816/3393				F8VX96_HUMAN,F8VUI9_HUMAN,F8VUI8_HUMAN,F8VQW3_HUMAN				CNTN1,synonymous_variant,p.=,ENST00000551295,NM_001843.3;CNTN1,synonymous_variant,p.=,ENST00000347616,;CNTN1,synonymous_variant,p.=,ENST00000348761,NM_175038.2;CNTN1,synonymous_variant,p.=,ENST00000547849,NM_001256064.1;CNTN1,synonymous_variant,p.=,ENST00000547702,NM_001256063.1;CNTN1,synonymous_variant,p.=,ENST00000360099,;							LOW	1737/3057		CNTN1_HUMAN			Transcript			.	ENSP00000325660		CCDS8737.1			1	
GABRA1	0	LGGM	GRCh37	5	161317952	161317952	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	46	8	.	.	ENST00000428797.2:c.752G>C	p.Gly251Ala	p.G251A	ENST00000428797	NM_001127643.1	251	gGc/gCc	0	1		UPI000012AF95	0	NA	ENST00000023897		ENSG00000022355	4075		54	2.82		HGNC	p.G251A		GABRA1		SNV			1				ENST00000420560	protein_coding	getma.org/?cm=var&var=hg19,5,161317952,G,C&fts=all		hmmpanther:PTHR18945:SF23,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Gene3D:2.70.170.10,Superfamily_domains:SSF90112,Prints_domain:PR00252		G/A		C	medium	1220/2083		getma.org/?cm=msa&ty=f&p=GBRA1_HUMAN&rb=221&re=286&var=G251A	deleterious(0.02)	E5RK60_HUMAN,E5RJS3_HUMAN				GABRA1,missense_variant,p.Gly251Ala,ENST00000428797,NM_001127643.1;GABRA1,missense_variant,p.Gly251Ala,ENST00000444819,;GABRA1,missense_variant,p.Gly251Ala,ENST00000437025,NM_001127645.1;GABRA1,missense_variant,p.Gly251Ala,ENST00000420560,NM_001127648.1;GABRA1,missense_variant,p.Gly251Ala,ENST00000393943,NM_001127644.1;GABRA1,missense_variant,p.Gly251Ala,ENST00000023897,NM_000806.5;GABRA1,non_coding_transcript_exon_variant,,ENST00000519542,;							MODERATE	752/1371	G251A	GBRA1_HUMAN			Transcript		benign(0.003)	.	ENSP00000023897		CCDS4357.1			1	
ERC1	0	LGGM	GRCh37	12	1137118	1137118	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	40	9	.	.	ENST00000397203.2:c.49A>G	p.Ser17Gly	p.S17G	ENST00000397203		17	Agc/Ggc	0	1		UPI000007479C	0	NA	ENST00000360905		ENSG00000082805	17072		49	0.46		HGNC	p.S17G		ERC1		SNV			1				ENST00000397203	protein_coding	getma.org/?cm=var&var=hg19,12,1137118,A,G&fts=all		hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1,Low_complexity_(Seg):seg		S/G		G	neutral	230/5789		getma.org/?cm=msa&ty=f&p=RB6I2_HUMAN&rb=1&re=153&var=S17G	tolerated(0.24)	K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,missense_variant,p.Ser17Gly,ENST00000397203,;ERC1,missense_variant,p.Ser17Gly,ENST00000543086,NM_178039.2;ERC1,missense_variant,p.Ser17Gly,ENST00000589028,NM_178040.2;ERC1,missense_variant,p.Ser17Gly,ENST00000355446,;ERC1,missense_variant,p.Ser17Gly,ENST00000360905,;ERC1,missense_variant,p.Ser17Gly,ENST00000546231,;ERC1,missense_variant,p.Ser17Gly,ENST00000589132,;ERC1,missense_variant,p.Ser17Gly,ENST00000545318,;ERC1,intron_variant,,ENST00000592048,;ERC1,downstream_gene_variant,,ENST00000587595,;ERC1,missense_variant,p.Ser17Gly,ENST00000440394,;ERC1,missense_variant,p.Ser17Gly,ENST00000347735,;ERC1,missense_variant,p.Ser17Gly,ENST00000542302,;ERC1,missense_variant,p.Ser17Gly,ENST00000545948,;							MODERATE	49/3351	S17G	RB6I2_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000354158		CCDS8508.1			1	
TUBD1	0	LGGM	GRCh37	17	57943963	57943963	+	splice_region_variant,intron_variant	Splice_Region	SNP	T	T	G	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	46	9	.	.	ENST00000325752.3:c.1075+7A>C		p.X359_splice	ENST00000325752	NM_016261.3			0	1	1	UPI000013D7FA	0	NA	ENST00000325752		ENSG00000108423	16811		55	0.895		HGNC	p.K361T		TUBD1		SNV							ENST00000394239	protein_coding	getma.org/?cm=var&var=hg19,17,57943963,T,G&fts=all						G	low	-/2472		getma.org/?cm=msa&ty=f&p=B4DPT8_HUMAN&rb=227&re=396&var=K361T		K7EMW6_HUMAN,K7EKE2_HUMAN			YES	TUBD1,missense_variant,p.Lys361Thr,ENST00000394239,NM_001193610.1;TUBD1,splice_region_variant,,ENST00000325752,NM_016261.3;TUBD1,splice_region_variant,,ENST00000340993,NM_001193612.1,NM_001193609.1;TUBD1,splice_region_variant,,ENST00000346141,;TUBD1,splice_region_variant,,ENST00000592426,;TUBD1,splice_region_variant,,ENST00000539018,NM_001193613.1;TUBD1,intron_variant,,ENST00000376094,NM_001193611.1;TUBD1,splice_region_variant,,ENST00000591548,;TUBD1,splice_region_variant,,ENST00000588009,;TUBD1,splice_region_variant,,ENST00000593110,;							LOW	-/1362	K361T	TBD_HUMAN			Transcript			.	ENSP00000320797		CCDS11620.1			1	
OBSCN	0	LGGM	GRCh37	1	228505745	228505745	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	31	9	.	.	ENST00000570156.2:c.16873C>A	p.Arg5625=	p.R5625=	ENST00000570156	NM_001271223.2	5625	Cgg/Agg	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		40			HGNC	p.R5380R		OBSCN		SNV							ENST00000570156	protein_coding			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		R		A		14046/24030								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,;							LOW	14002/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
C10orf11	0	LGGM	GRCh37	10	77806926	77806926	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	53	9	.	.	ENST00000372499.1:c.179C>G	p.Thr60Ser	p.T60S	ENST00000372499	NM_032024.3	60	aCt/aGt	0	1	1	UPI000006D28F	0	getma.org/pdb.php?prot=CJ011_HUMAN&from=1&to=198&var=T60S	ENST00000372499		ENSG00000148655	23405		62	0.405		HGNC	p.T60S		C10orf11		SNV			1				ENST00000372499	protein_coding	getma.org/?cm=var&var=hg19,10,77806926,C,G&fts=all		Superfamily_domains:SSF52058,Pfam_domain:PF14580,Gene3D:3.80.10.10,hmmpanther:PTHR10552,PROSITE_profiles:PS51450		T/S		G	neutral	394/899		getma.org/?cm=msa&ty=f&p=CJ011_HUMAN&rb=1&re=198&var=T60S	tolerated(0.29)				YES	C10orf11,missense_variant,p.Thr60Ser,ENST00000372499,NM_032024.3;C10orf11,non_coding_transcript_exon_variant,,ENST00000593699,;							MODERATE	179/597	T60S	CJ011_HUMAN			Transcript		benign(0.036)	.	ENSP00000361577		CCDS7351.1			1	
CEP192	0	LGGM	GRCh37	18	13124639	13124639	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	22	9	.	.	ENST00000506447.1:c.7484A>G	p.His2495Arg	p.H2495R	ENST00000506447	NM_032142.3	2495	cAt/cGt	0	1	1	UPI0001B09235	0	NA	ENST00000506447		ENSG00000101639	25515		31	1.9		HGNC	p.H1899R		CEP192		SNV							ENST00000325971	protein_coding	getma.org/?cm=var&var=hg19,18,13124639,A,G&fts=all		hmmpanther:PTHR16029:SF10,hmmpanther:PTHR16029		H/R		G	low	7564/7960		getma.org/?cm=msa&ty=f&p=CE192_HUMAN&rb=6&re=1939&var=H1899R	deleterious(0)	E9PF99_HUMAN			YES	CEP192,missense_variant,p.His2495Arg,ENST00000506447,NM_032142.3;CEP192,missense_variant,p.His1899Arg,ENST00000325971,;CEP192,missense_variant,p.His2020Arg,ENST00000430049,;CEP192,missense_variant,p.His2034Arg,ENST00000511820,;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,;CEP192,non_coding_transcript_exon_variant,,ENST00000513183,;CEP192,3_prime_UTR_variant,,ENST00000513432,;CEP192,3_prime_UTR_variant,,ENST00000510237,;CEP192,3_prime_UTR_variant,,ENST00000589993,;							MODERATE	7484/7614	H1899R				Transcript		probably_damaging(0.999)	.	ENSP00000427550		CCDS32792.2			1	
TCTE1	0	LGGM	GRCh37	6	44253884	44253884	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	44	10	.	.	ENST00000371505.4:c.663G>T	p.Glu221Asp	p.E221D	ENST00000371505	NM_182539.3	221	gaG/gaT	0	1	1	UPI0000160BC0	0	NA	ENST00000371505		ENSG00000146221	11693		54	0.2		HGNC	p.E221D		TCTE1		SNV							ENST00000371505	protein_coding	getma.org/?cm=var&var=hg19,6,44253884,C,A&fts=all		hmmpanther:PTHR24107,hmmpanther:PTHR24107:SF2		E/D		A	neutral	786/3067		getma.org/?cm=msa&ty=f&p=TCTE1_HUMAN&rb=201&re=305&var=E221D	tolerated(1)				YES	TCTE1,missense_variant,p.Glu221Asp,ENST00000371505,NM_182539.3;TCTE1,missense_variant,p.Glu68Asp,ENST00000371503,;TCTE1,missense_variant,p.Glu68Asp,ENST00000371504,;TMEM151B,intron_variant,,ENST00000438774,;RP11-444E17.6,intron_variant,,ENST00000505802,;							MODERATE	663/1506	E221D	TCTE1_HUMAN			Transcript		benign(0.002)	.	ENSP00000360560		CCDS4910.1			1	
TGFB3	0	LGGM	GRCh37	14	76446889	76446889	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	16	10	.	.	ENST00000238682.3:c.348G>A	p.Glu116=	p.E116=	ENST00000238682	NM_003239.2	116	gaG/gaA	0	1	1	UPI000000D8EC	0		ENST00000238682		ENSG00000119699	11769		26			HGNC	p.E116E	rs780253883	TGFB3	6.06E-05	SNV			1				ENST00000238682	protein_coding			Pfam_domain:PF00688,PIRSF_domain:PIRSF001787,Prints_domain:PR01426,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF34		E		T		646/2522				Q8WV88_HUMAN,Q6TV16_HUMAN,Q6TV15_HUMAN,Q6TV14_HUMAN,Q6LDJ6_HUMAN,A5YM40_HUMAN			YES	TGFB3,synonymous_variant,p.=,ENST00000238682,NM_003239.2;TGFB3,synonymous_variant,p.=,ENST00000556285,;TGFB3,downstream_gene_variant,,ENST00000556674,;TGFB3,downstream_gene_variant,,ENST00000555193,;IFT43,intron_variant,,ENST00000555677,;							LOW	348/1239		TGFB3_HUMAN			Transcript			.	ENSP00000238682	8.24E-06	CCDS9846.1			1	
PLXNB2	0	LGGM	GRCh37	22	50728444	50728444	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	27	10	.	.	ENST00000449103.1:c.570G>T	p.Arg190=	p.R190=	ENST00000449103		190	cgG/cgT	0	1		UPI000003812D	0		ENST00000359337		ENSG00000196576	9104		37			HGNC	p.R190R		PLXNB2		SNV							ENST00000359337	protein_coding			Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR22625:SF9,PROSITE_profiles:PS51004,hmmpanther:PTHR22625		R		A		679/6351				Q2TBE4_HUMAN,E2PU09_HUMAN,A6QRH1_HUMAN				PLXNB2,synonymous_variant,p.=,ENST00000449103,;PLXNB2,synonymous_variant,p.=,ENST00000359337,NM_012401.3;PLXNB2,synonymous_variant,p.=,ENST00000432455,;PLXNB2,upstream_gene_variant,,ENST00000411680,;PLXNB2,downstream_gene_variant,,ENST00000425954,;PLXNB2,upstream_gene_variant,,ENST00000434732,;PLXNB2,upstream_gene_variant,,ENST00000496720,;							LOW	570/5517		PLXB2_HUMAN			Transcript			.	ENSP00000352288		CCDS43035.1			1	
NOX1	0	LGGM	GRCh37	X	100118565	100118565	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	6	11	.	.	ENST00000372966.3:c.161G>T	p.Arg54Leu	p.R54L	ENST00000372966	NM_001271815.1	54	cGa/cTa	0	1	1	UPI00001303C1	0	NA	ENST00000372966		ENSG00000007952	7889		17	3.635		HGNC	p.R54L		NOX1		SNV							ENST00000372964	protein_coding	getma.org/?cm=var&var=hg19,X,100118565,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11972:SF10,hmmpanther:PTHR11972		R/L		A	high	367/2529		getma.org/?cm=msa&ty=f&p=NOX1_HUMAN&rb=54&re=219&var=R54L	deleterious(0)				YES	NOX1,missense_variant,p.Arg54Leu,ENST00000372966,NM_001271815.1,NM_013955.2,NM_007052.4;NOX1,missense_variant,p.Arg54Leu,ENST00000217885,;NOX1,missense_variant,p.Arg54Leu,ENST00000372964,;NOX1,intron_variant,,ENST00000372960,;							MODERATE	161/1695	R54L	NOX1_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000362057		CCDS14474.1			1	
CSAD	0	LGGM	GRCh37	12	53565165	53565165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	17	12	.	.	ENST00000267085.4:c.593G>T	p.Cys198Phe	p.C198F	ENST00000267085	NM_015989.4	198	tGc/tTc	0	1		UPI000013D727	0	getma.org/pdb.php?prot=CSAD_HUMAN&from=49&to=417&var=C171F	ENST00000444623		ENSG00000139631	18966		29	0.835		HGNC	p.C198F		CSAD		SNV							ENST00000267085	protein_coding	getma.org/?cm=var&var=hg19,12,53565165,C,A&fts=all		Superfamily_domains:SSF53383,Pfam_domain:PF00282,Gene3D:3.40.640.10,hmmpanther:PTHR11999:SF72,hmmpanther:PTHR11999		C/F		A	low	780/2122		getma.org/?cm=msa&ty=f&p=CSAD_HUMAN&rb=49&re=417&var=C171F	tolerated(0.05)	H3BTP4_HUMAN,E9PFW9_HUMAN,C9JTU8_HUMAN				CSAD,missense_variant,p.Cys198Phe,ENST00000267085,NM_015989.4,NM_001244706.1;CSAD,missense_variant,p.Cys197Phe,ENST00000379850,;CSAD,missense_variant,p.Cys171Phe,ENST00000444623,NM_001244705.1;CSAD,missense_variant,p.Cys171Phe,ENST00000453446,;CSAD,3_prime_UTR_variant,,ENST00000542115,;CSAD,intron_variant,,ENST00000379843,;CSAD,intron_variant,,ENST00000379846,;CSAD,intron_variant,,ENST00000548698,;CSAD,downstream_gene_variant,,ENST00000498635,;CSAD,downstream_gene_variant,,ENST00000437073,;CSAD,downstream_gene_variant,,ENST00000424990,;CSAD,non_coding_transcript_exon_variant,,ENST00000454442,;CSAD,downstream_gene_variant,,ENST00000491654,;CSAD,missense_variant,p.Cys171Phe,ENST00000475890,;CSAD,3_prime_UTR_variant,,ENST00000424845,;CSAD,intron_variant,,ENST00000483632,;CSAD,upstream_gene_variant,,ENST00000490923,;CSAD,upstream_gene_variant,,ENST00000485004,;CSAD,upstream_gene_variant,,ENST00000490589,;CSAD,upstream_gene_variant,,ENST00000472908,;CSAD,downstream_gene_variant,,ENST00000461392,;							MODERATE	512/1482	C171F	CSAD_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000415485		CCDS58235.1			1	
APOL6	0	LGGM	GRCh37	22	36054903	36054903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	24	12	.	.	ENST00000409652.4:c.292C>T	p.Leu98Phe	p.L98F	ENST00000409652	NM_030641.3	98	Ctt/Ttt	0	1	1	UPI000000DC62	0	NA	ENST00000409652		ENSG00000221963	14870		36	1.745		HGNC	p.L98F		APOL6		SNV							ENST00000409652	protein_coding	getma.org/?cm=var&var=hg19,22,36054903,C,T&fts=all		Pfam_domain:PF05461,hmmpanther:PTHR14096,hmmpanther:PTHR14096:SF7,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/F		T	low	568/10121		getma.org/?cm=msa&ty=f&p=APOL6_HUMAN&rb=1&re=292&var=L98F	tolerated(0.11)	Q8NCM1_HUMAN,B3KTP4_HUMAN			YES	APOL6,missense_variant,p.Leu98Phe,ENST00000409652,NM_030641.3;							MODERATE	292/1032	L98F	APOL6_HUMAN			Transcript		possibly_damaging(0.818)	.	ENSP00000386280		CCDS13919.1			1	
E2F4	0	LGGM	GRCh37	16	67231775	67231775	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	6	12	.	.	ENST00000379378.3:c.1087A>G	p.Met363Val	p.M363V	ENST00000379378	NM_001950.3	363	Atg/Gtg	0	1	1	UPI000002EFCB	0	NA	ENST00000379378		ENSG00000205250	3118		18	0.895		HGNC	p.M363V		E2F4		SNV							ENST00000379378	protein_coding	getma.org/?cm=var&var=hg19,16,67231775,A,G&fts=all		hmmpanther:PTHR12081,hmmpanther:PTHR12081:SF42,Low_complexity_(Seg):seg		M/V		G	low	1146/2096		getma.org/?cm=msa&ty=f&p=E2F4_HUMAN&rb=284&re=413&var=M363V	tolerated(0.33)				YES	E2F4,missense_variant,p.Met363Val,ENST00000379378,NM_001950.3;E2F4,missense_variant,p.Met104Val,ENST00000565226,;ELMO3,upstream_gene_variant,,ENST00000393997,NM_024712.3;ELMO3,upstream_gene_variant,,ENST00000360833,;ELMO3,upstream_gene_variant,,ENST00000477898,;MIR328,downstream_gene_variant,,ENST00000385213,;E2F4,downstream_gene_variant,,ENST00000564718,;ELMO3,upstream_gene_variant,,ENST00000571638,;E2F4,non_coding_transcript_exon_variant,,ENST00000567007,;E2F4,non_coding_transcript_exon_variant,,ENST00000567228,;E2F4,downstream_gene_variant,,ENST00000568839,;E2F4,downstream_gene_variant,,ENST00000561904,;E2F4,downstream_gene_variant,,ENST00000569573,;ELMO3,upstream_gene_variant,,ENST00000571587,;E2F4,downstream_gene_variant,,ENST00000563238,;E2F4,downstream_gene_variant,,ENST00000568485,;E2F4,downstream_gene_variant,,ENST00000565849,;E2F4,downstream_gene_variant,,ENST00000568693,;E2F4,downstream_gene_variant,,ENST00000566368,;							MODERATE	1087/1242	M363V	E2F4_HUMAN			Transcript		benign(0.096)	.	ENSP00000368686		CCDS32464.1			1	
OR51E2	0	LGGM	GRCh37	11	4712178	4712178	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	42	13	.	.	ENST00000608504.1:n.755T>C		*252*	ENST00000608504				0	1	1	UPI000003B49B	0		ENST00000396950		ENSG00000167332	15195		55			HGNC	p.I250T		OR51E2		SNV							ENST00000357764	protein_coding							G		-/2781				E9PPJ8_HUMAN			YES	OR51E2,intron_variant,,ENST00000396950,NM_030774.3;OR51E2,intron_variant,,ENST00000532598,;OR51C1P,non_coding_transcript_exon_variant,,ENST00000608504,;OR51C1P,non_coding_transcript_exon_variant,,ENST00000357764,;							MODIFIER	-/963		O51E2_HUMAN			Transcript			.	ENSP00000380153		CCDS7751.1			1	
MROH2A	0	LGGM	GRCh37	2	234704668	234704668	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	30	13	.	.	ENST00000389758.3:c.1115T>C	p.Met372Thr	p.M372T	ENST00000389758		372	aTg/aCg	0	1	1	UPI0003B9285E	0	NA	ENST00000389758		ENSG00000185038	27936		43	0.69		HGNC	p.M372T		MROH2A		SNV							ENST00000389758	protein_coding	getma.org/?cm=var&var=hg19,2,234704668,T,C&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14		M/T		C	neutral	1281/5355		getma.org/?cm=msa&ty=f&p=HTRB1_HUMAN&rb=1&re=1704&var=M402T	tolerated(0.31)	F8VUA0_HUMAN,C9IYW5_HUMAN			YES	MROH2A,missense_variant,p.Met372Thr,ENST00000389758,;MROH2A,downstream_gene_variant,,ENST00000480634,;MROH2A,upstream_gene_variant,,ENST00000477506,;							MODERATE	1115/5025	M402T				Transcript		benign(0.001)	.	ENSP00000374408					1	
VN1R2	0	LGGM	GRCh37	19	53762232	53762232	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	24	13	.	.	ENST00000341702.3:c.604A>G	p.Lys202Glu	p.K202E	ENST00000341702	NM_173856.2	202	Aaa/Gaa	0	1	1	UPI0000062046	0	NA	ENST00000341702		ENSG00000196131	19872		37	3.53		HGNC	p.K202E		VN1R2		SNV							ENST00000341702	protein_coding	getma.org/?cm=var&var=hg19,19,53762232,A,G&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01534		K/E		G	high	688/1311		getma.org/?cm=msa&ty=f&p=VN1R2_HUMAN&rb=115&re=374&var=K202E	deleterious(0)				YES	VN1R2,missense_variant,p.Lys202Glu,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,;							MODERATE	604/1188	K202E	VN1R2_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000351244		CCDS12862.1			1	
KIAA1324	0	LGGM	GRCh37	1	109707300	109707300	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	30	14	.	.	ENST00000369939.3:c.454G>A	p.Gly152Arg	p.G152R	ENST00000369939	NM_020775.4	152	Ggg/Agg	0	1	1	UPI00002051E0	0	NA	ENST00000369939		ENSG00000116299	29618		44	-0.345		HGNC	p.G152R	rs755242805	KIAA1324		SNV							ENST00000369939	protein_coding	getma.org/?cm=var&var=hg19,1,109707300,G,A&fts=all		hmmpanther:PTHR22727,hmmpanther:PTHR22727:SF13		G/R		A	neutral	637/3442	3.03E-05	getma.org/?cm=msa&ty=f&p=K1324_HUMAN&rb=1&re=200&var=G152R	tolerated(0.37)	E9PS21_HUMAN,E9PMS2_HUMAN,E9PLY8_HUMAN,E9PLQ2_HUMAN			YES	KIAA1324,missense_variant,p.Gly152Arg,ENST00000369939,NM_020775.4;KIAA1324,missense_variant,p.Gly152Arg,ENST00000529753,NM_001267048.1;KIAA1324,missense_variant,p.Gly152Arg,ENST00000457623,;KIAA1324,missense_variant,p.Gly152Arg,ENST00000531664,;KIAA1324,missense_variant,p.Gly152Arg,ENST00000534476,;KIAA1324,missense_variant,p.Gly152Arg,ENST00000526264,;KIAA1324,downstream_gene_variant,,ENST00000533147,;KIAA1324,3_prime_UTR_variant,,ENST00000527996,NM_001284352.1;KIAA1324,non_coding_transcript_exon_variant,,ENST00000490758,;KIAA1324,downstream_gene_variant,,ENST00000533374,;							MODERATE	454/3042	G152R	K1324_HUMAN			Transcript		benign(0.093)	.	ENSP00000358955	1.65E-05	CCDS794.1			1	
TENM3	0	LGGM	GRCh37	4	183594235	183594235	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	17	14	.	.	ENST00000511685.1:c.1189G>A	p.Glu397Lys	p.E397K	ENST00000511685		397	Gag/Aag	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		31	0.46		HGNC	p.E397K		TENM3		SNV			1				ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183594235,G,A&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10		E/K		A	neutral	1312/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=309&re=508&var=E397K	tolerated(0.37)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Glu397Lys,ENST00000511685,;TENM3,missense_variant,p.Glu397Lys,ENST00000406950,NM_001080477.1;							MODERATE	1189/8100	E397K	TEN3_HUMAN			Transcript		benign(0.292)	.	ENSP00000424226		CCDS47165.1			1	
MAG	0	LGGM	GRCh37	19	35800986	35800986	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	11	14	.	.	ENST00000392213.3:c.1441C>A	p.Gln481Lys	p.Q481K	ENST00000392213	NM_002361.3	481	Cag/Aag	0	1	1	UPI000012EB2F	0	NA	ENST00000392213		ENSG00000105695	6783		25	0.345		HGNC	p.Q481K		MAG		SNV							ENST00000392213	protein_coding	getma.org/?cm=var&var=hg19,19,35800986,C,A&fts=all		hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF23,Superfamily_domains:SSF48726		Q/K		A	neutral	1600/2390		getma.org/?cm=msa&ty=f&p=MAG_HUMAN&rb=413&re=508&var=Q481K	tolerated(0.11)	M0R3I4_HUMAN,M0R3B9_HUMAN,M0QZU4_HUMAN			YES	MAG,missense_variant,p.Gln481Lys,ENST00000361922,NM_080600.2;MAG,missense_variant,p.Gln481Lys,ENST00000392213,NM_002361.3;MAG,missense_variant,p.Gln456Lys,ENST00000537831,NM_001199216.1;MAG,non_coding_transcript_exon_variant,,ENST00000593348,;MAG,upstream_gene_variant,,ENST00000597162,;							MODERATE	1441/1881	Q481K	MAG_HUMAN			Transcript		benign(0.038)	.	ENSP00000376048		CCDS12455.1			1	
GRIA4	0	LGGM	GRCh37	11	105795360	105795360	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	27	14	.	.	ENST00000282499.5:c.1712A>G	p.Tyr571Cys	p.Y571C	ENST00000282499	NM_000829.3	571	tAt/tGt	0	1	1	UPI000013DCE6	0	getma.org/pdb.php?prot=GRIA4_HUMAN&from=544&to=825&var=Y571C	ENST00000282499		ENSG00000152578	4574		41	2.375		HGNC	p.Y571C		GRIA4		SNV							ENST00000525187	protein_coding	getma.org/?cm=var&var=hg19,11,105795360,A,G&fts=all		hmmpanther:PTHR18966:SF100,hmmpanther:PTHR18966,Gene3D:1.10.287.70,Pfam_domain:PF00060,SMART_domains:SM00079,Superfamily_domains:SSF81324		Y/C		G	medium	2158/5508		getma.org/?cm=msa&ty=f&p=GRIA4_HUMAN&rb=544&re=825&var=Y571C	deleterious(0.01)	E9PJZ5_HUMAN			YES	GRIA4,missense_variant,p.Tyr571Cys,ENST00000393127,NM_001077243.2;GRIA4,missense_variant,p.Tyr571Cys,ENST00000282499,NM_000829.3;GRIA4,missense_variant,p.Tyr571Cys,ENST00000530497,;GRIA4,missense_variant,p.Tyr571Cys,ENST00000525187,;							MODERATE	1712/2709	Y571C	GRIA4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000282499		CCDS8333.1			1	
STON1-GTF2A1L	0	LGGM	GRCh37	2	48873772	48873772	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	53	15	.	.	ENST00000394754.1:c.2681T>A	p.Ile894Asn	p.I894N	ENST00000394754	NM_172311.2	894	aTt/aAt	0	1	1	UPI000013C976	0	NA	ENST00000394754		ENSG00000068781	30651		68	0.95		HGNC	p.I156N		STON1-GTF2A1L		SNV							ENST00000430487	protein_coding	getma.org/?cm=var&var=hg19,2,48873772,T,A&fts=all		Pfam_domain:PF03153		I/N		A	low	2795/3824		getma.org/?cm=msa&ty=f&p=TF2AY_HUMAN&rb=9&re=478&var=I190N	deleterious(0.03)	Q53S48_HUMAN			YES	STON1-GTF2A1L,missense_variant,p.Ile894Asn,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Ile894Asn,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Ile894Asn,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Ile894Asn,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Ile847Asn,ENST00000394751,NM_001198594.1;GTF2A1L,missense_variant,p.Ile190Asn,ENST00000403751,NM_006872.3;GTF2A1L,missense_variant,p.Ile156Asn,ENST00000430487,NM_001193487.1;GTF2A1L,missense_variant,p.Ile199Asn,ENST00000437125,;GTF2A1L,missense_variant,p.Ile156Asn,ENST00000448460,;LHCGR,intron_variant,,ENST00000420913,;GTF2A1L,downstream_gene_variant,,ENST00000468326,;GTF2A1L,downstream_gene_variant,,ENST00000423675,;							MODERATE	2681/3549	I190N				Transcript		possibly_damaging(0.567)	.	ENSP00000378236		CCDS1840.1			1	
SNTG2	0	LGGM	GRCh37	2	1161258	1161258	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	34	15	.	.	ENST00000308624.5:c.436G>A	p.Asp146Asn	p.D146N	ENST00000308624	NM_018968.3	146	Gat/Aat	0	1	1	UPI0000456D73	0	getma.org/pdb.php?prot=SNTG2_HUMAN&from=73&to=153&var=D146N	ENST00000308624		ENSG00000172554	13741		49	0.985		HGNC	p.D146N	rs774232298	SNTG2	0.000121	SNV				0.000308			ENST00000308624	protein_coding	getma.org/?cm=var&var=hg19,2,1161258,G,A&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3,SMART_domains:SM00228,Superfamily_domains:SSF50156		D/N		A	low	565/1888	6.00E-05	getma.org/?cm=msa&ty=f&p=SNTG2_HUMAN&rb=73&re=153&var=D146N	deleterious(0.03)				YES	SNTG2,missense_variant,p.Asp146Asn,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,;SNTG2,3_prime_UTR_variant,,ENST00000450962,;SNTG2,downstream_gene_variant,,ENST00000452177,;	0.000116						MODERATE	436/1620	D146N	SNTG2_HUMAN			Transcript		probably_damaging(0.943)	.	ENSP00000311837	8.28E-05	CCDS46220.1			1	
MYO10	0	LGGM	GRCh37	5	16680138	16680138	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	32	15	.	.	ENST00000513610.1:c.4460G>A	p.Arg1487Gln	p.R1487Q	ENST00000513610	NM_012334.2	1487	cGg/cAg	0	1	1	UPI0001597062	0	getma.org/pdb.php?prot=MYO10_HUMAN&from=1393&to=1497&var=R1487Q	ENST00000513610		ENSG00000145555	7593	0.000264	47	1.65		HGNC	p.R1487Q	rs747780788	MYO10		SNV							ENST00000513610	protein_coding	getma.org/?cm=var&var=hg19,5,16680138,C,T&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003		R/Q		T	low	4915/8038	1.51E-05	getma.org/?cm=msa&ty=f&p=MYO10_HUMAN&rb=1393&re=1497&var=R1487Q	deleterious(0.03)	E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	MYO10,missense_variant,p.Arg1487Gln,ENST00000513610,NM_012334.2;MYO10,missense_variant,p.Arg826Gln,ENST00000515803,;MYO10,missense_variant,p.Arg844Gln,ENST00000274203,;MYO10,missense_variant,p.Arg844Gln,ENST00000427430,;MYO10,missense_variant,p.Arg826Gln,ENST00000505695,;							MODERATE	4460/6177	R1487Q	MYO10_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000421280	3.31E-05	CCDS54834.1			1	
DIDO1	0	LGGM	GRCh37	20	61525775	61525775	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	32	15	.	.	ENST00000266070.4:c.2562A>G	p.Lys854=	p.K854=	ENST00000266070	NM_033081.2	854	aaA/aaG	0	1	1	UPI0000206380	0		ENST00000266070		ENSG00000101191	2680		47			HGNC	p.K854K		DIDO1		SNV							ENST00000266070	protein_coding			hmmpanther:PTHR14914:SF7,hmmpanther:PTHR14914		K		C		2888/8544							YES	DIDO1,synonymous_variant,p.=,ENST00000266070,NM_033081.2;DIDO1,synonymous_variant,p.=,ENST00000395343,NM_001193369.1;DIDO1,synonymous_variant,p.=,ENST00000395335,NM_080797.3;DIDO1,synonymous_variant,p.=,ENST00000395340,NM_001193370.1;							LOW	2562/6723		DIDO1_HUMAN			Transcript			.	ENSP00000266070		CCDS33506.1			1	
ACKR2	0	LGGM	GRCh37	3	42906161	42906161	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	35	15	.	.	ENST00000422265.1:c.167T>C	p.Ile56Thr	p.I56T	ENST00000422265	NM_001296.4	56	aTt/aCt	0	1		UPI000004358E	0	NA	ENST00000273145		ENSG00000144648	1565		50	2.1		HGNC	p.I56T		ACKR2		SNV							ENST00000422265	protein_coding	getma.org/?cm=var&var=hg19,3,42906161,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,Prints_domain:PR00645,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF10,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I/T		C	medium	297/2910		getma.org/?cm=msa&ty=f&p=CCBP2_HUMAN&rb=1&re=62&var=I56T	deleterious(0)					ACKR2,missense_variant,p.Ile56Thr,ENST00000422265,NM_001296.4;ACKR2,missense_variant,p.Ile56Thr,ENST00000273145,;ACKR2,missense_variant,p.Ile56Thr,ENST00000442925,;ACKR2,missense_variant,p.Ile56Thr,ENST00000493193,;ACKR2,missense_variant,p.Ile56Thr,ENST00000494619,;ACKR2,missense_variant,p.Ile56Thr,ENST00000497921,;ACKR2,missense_variant,p.Ile56Thr,ENST00000492609,;CYP8B1,intron_variant,,ENST00000437102,;KRBOX1,intron_variant,,ENST00000426937,;ACKR2,non_coding_transcript_exon_variant,,ENST00000498111,;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,;ACKR2,downstream_gene_variant,,ENST00000463699,;							MODERATE	167/1155	I56T	ACKR2_HUMAN			Transcript		benign(0.282)	.	ENSP00000273145		CCDS2706.1			1	
USP29	0	LGGM	GRCh37	19	57641809	57641809	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	59	16	.	.	ENST00000254181.4:c.1766A>G	p.Asp589Gly	p.D589G	ENST00000254181	NM_020903.2	589	gAt/gGt	0	1	1	UPI0000137A01	0	NA	ENST00000254181		ENSG00000131864	18563		75	0.97		HGNC	p.D589G		USP29		SNV							ENST00000598197	protein_coding	getma.org/?cm=var&var=hg19,19,57641809,A,G&fts=all		PROSITE_profiles:PS50235,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006,Pfam_domain:PF00443		D/G		G	low	2220/3705		getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=282&re=882&var=D589G	deleterious(0.03)	M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,missense_variant,p.Asp589Gly,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Asp589Gly,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;							MODERATE	1766/2769	D589G	UBP29_HUMAN			Transcript		possibly_damaging(0.616)	.	ENSP00000254181		CCDS33124.1			1	
AKAP4	0	LGGM	GRCh37	X	49955665	49955665	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	17	17	.	.	ENST00000358526.2:c.2503G>C	p.Asp835His	p.D835H	ENST00000358526	NM_003886.2	835	Gat/Cat	0	1	1	UPI000013DA96	0	NA	ENST00000358526		ENSG00000147081	374		34	2.295		HGNC	p.D826H		AKAP4		SNV							ENST00000376056	protein_coding	getma.org/?cm=var&var=hg19,X,49955665,C,G&fts=all		hmmpanther:PTHR10226:SF8,hmmpanther:PTHR10226,Pfam_domain:PF05716,SMART_domains:SM00807		D/H		G	medium	2627/2881		getma.org/?cm=msa&ty=f&p=AKAP4_HUMAN&rb=230&re=854&var=D835H	deleterious(0)				YES	AKAP4,missense_variant,p.Asp826His,ENST00000376056,;AKAP4,missense_variant,p.Asp835His,ENST00000358526,NM_003886.2;AKAP4,missense_variant,p.Asp826His,ENST00000376064,NM_139289.1;AKAP4,missense_variant,p.Asp452His,ENST00000376058,;AKAP4,downstream_gene_variant,,ENST00000437370,;AKAP4,downstream_gene_variant,,ENST00000448865,;AKAP4,non_coding_transcript_exon_variant,,ENST00000481402,;AKAP4,downstream_gene_variant,,ENST00000480926,;							MODERATE	2503/2565	D835H	AKAP4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000351327		CCDS14329.1			1	
LTF	0	LGGM	GRCh37	3	46479592	46479592	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	76	18	.	.	ENST00000231751.4:c.1937G>A	p.Cys646Tyr	p.C646Y	ENST00000231751	NM_002343.3	646	tGc/tAc	0	1	1	UPI000016ABE3	0	getma.org/pdb.php?prot=TRFL_HUMAN&from=364&to=695&var=C646Y	ENST00000231751		ENSG00000012223	6720		94	1.93		HGNC	p.C633Y		LTF		SNV			1				ENST00000443496	protein_coding	getma.org/?cm=var&var=hg19,3,46479592,C,T&fts=all		PROSITE_profiles:PS51408,hmmpanther:PTHR11485:SF21,hmmpanther:PTHR11485,Gene3D:3.40.190.10,Pfam_domain:PF00405,SMART_domains:SM00094,PIRSF_domain:PIRSF002549,PIRSF_domain:PIRSF500683,Superfamily_domains:SSF53850		C/Y		T	medium	2233/2979		getma.org/?cm=msa&ty=f&p=TRFL_HUMAN&rb=364&re=695&var=C646Y	tolerated(0.31)	C9J0S5_HUMAN,A8K9U8_HUMAN			YES	LTF,missense_variant,p.Cys646Tyr,ENST00000231751,NM_002343.3;LTF,missense_variant,p.Cys633Tyr,ENST00000443496,;LTF,missense_variant,p.Cys602Tyr,ENST00000426532,NM_001199149.1;LTF,missense_variant,p.Cys644Tyr,ENST00000417439,;LTF,non_coding_transcript_exon_variant,,ENST00000493056,;LTF,non_coding_transcript_exon_variant,,ENST00000478874,;							MODERATE	1937/2133	C646Y	TRFL_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000231751		CCDS33747.1			1	
SRGAP3	0	LGGM	GRCh37	3	9166452	9166452	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	18	19	.	.	ENST00000383836.3:c.217C>T	p.Arg73Cys	p.R73C	ENST00000383836	NM_014850.3	73	Cgc/Tgc	0	1	1	UPI0000074099	0	getma.org/pdb.php?prot=SRGP3_HUMAN&from=22&to=87&var=R73C	ENST00000383836		ENSG00000196220	19744		37	2.455		HGNC	p.R73C	COSM1425720	SRGAP3		SNV			1			1	ENST00000383836	protein_coding	getma.org/?cm=var&var=hg19,3,9166452,G,A&fts=all		PROSITE_profiles:PS50133,hmmpanther:PTHR14166:SF8,hmmpanther:PTHR14166,Pfam_domain:PF00611,SMART_domains:SM00055,Superfamily_domains:SSF103657		R/C		A	medium	645/8656		getma.org/?cm=msa&ty=f&p=SRGP3_HUMAN&rb=22&re=87&var=R73C	deleterious(0)				YES	SRGAP3,missense_variant,p.Arg73Cys,ENST00000383836,NM_014850.3;SRGAP3,missense_variant,p.Arg73Cys,ENST00000360413,NM_001033117.2;SRGAP3,non_coding_transcript_exon_variant,,ENST00000433332,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000490889,;SRGAP3,non_coding_transcript_exon_variant,,ENST00000470951,;					1		MODERATE	217/3300	R73C	SRGP3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000373347		CCDS2572.1			1	
USP29	0	LGGM	GRCh37	19	57640702	57640702	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	79	20	.	.	ENST00000254181.4:c.659G>C	p.Arg220Thr	p.R220T	ENST00000254181	NM_020903.2	220	aGa/aCa	0	1	1	UPI0000137A01	0	NA	ENST00000254181		ENSG00000131864	18563		99	1.245		HGNC	p.R220T	COSM95448	USP29		SNV						1	ENST00000598197	protein_coding	getma.org/?cm=var&var=hg19,19,57640702,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24006:SF390,hmmpanther:PTHR24006		R/T		C	low	1113/3705		getma.org/?cm=msa&ty=f&p=UBP29_HUMAN&rb=104&re=281&var=R220T	deleterious(0.04)	M0QZL0_HUMAN,A1L447_HUMAN			YES	USP29,missense_variant,p.Arg220Thr,ENST00000254181,NM_020903.2;USP29,missense_variant,p.Arg220Thr,ENST00000598197,;ZIM3,downstream_gene_variant,,ENST00000269834,NM_052882.1;USP29,downstream_gene_variant,,ENST00000600940,;USP29,downstream_gene_variant,,ENST00000600020,;U3,downstream_gene_variant,,ENST00000516874,;					1		MODERATE	659/2769	R220T	UBP29_HUMAN			Transcript		benign(0.011)	.	ENSP00000254181		CCDS33124.1			1	
KCNH5	0	LGGM	GRCh37	14	63269074	63269074	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	71	20	.	.	ENST00000322893.7:c.1795C>T	p.Gln599Ter	p.Q599*	ENST00000322893	NM_139318.4	599	Cag/Tag	0	1	1	UPI0000039E2D	0	NA	ENST00000322893		ENSG00000140015	6254		91	0		HGNC	p.Q599X		KCNH5		SNV							ENST00000322893	protein_coding	getma.org/?cm=var&var=hg19,14,63269074,G,A&fts=all		Gene3D:2.60.120.10,Pfam_domain:PF00027,PROSITE_profiles:PS50042,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376,SMART_domains:SM00100,Superfamily_domains:SSF51206		Q/*		A	NA	2064/4175		NA					YES	KCNH5,stop_gained,p.Gln599Ter,ENST00000322893,NM_139318.4;KCNH5,stop_gained,p.Gln599Ter,ENST00000420622,NM_172375.2;KCNH5,stop_gained,p.Gln541Ter,ENST00000394968,;							HIGH	1795/2967	Q599*	KCNH5_HUMAN			Transcript			.	ENSP00000321427		CCDS9756.1			1	
ZFHX4	0	LGGM	GRCh37	8	77617978	77617978	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	69	21	.	.	ENST00000521891.2:c.1655A>G	p.Tyr552Cys	p.Y552C	ENST00000521891	NM_024721.4	552	tAt/tGt	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		90	0.755		HGNC	p.Y552C		ZFHX4		SNV							ENST00000521891	protein_coding	getma.org/?cm=var&var=hg19,8,77617978,A,G&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40		Y/C		G	neutral	2103/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=516&re=698&var=Y552C		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Tyr552Cys,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Tyr552Cys,ENST00000455469,;ZFHX4,missense_variant,p.Tyr552Cys,ENST00000518282,;ZFHX4,missense_variant,p.Tyr552Cys,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,;							MODERATE	1655/10851	Y552C				Transcript		benign(0.077)	.	ENSP00000430497		CCDS47878.2			1	
NCAPG2	0	LGGM	GRCh37	7	158447372	158447372	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	50	22	.	.	ENST00000409423.1:c.2661G>T	p.Val887=	p.V887=	ENST00000409423	NM_001281932.1	887	gtG/gtT	0	1		UPI000000DA46	0		ENST00000356309		ENSG00000146918	21904		72			HGNC	p.V887V		NCAPG2		SNV							ENST00000409339	protein_coding			hmmpanther:PTHR16199,hmmpanther:PTHR16199:SF4		V		A		2806/3930								NCAPG2,synonymous_variant,p.=,ENST00000409339,NM_001281933.1;NCAPG2,synonymous_variant,p.=,ENST00000409423,NM_001281932.1;NCAPG2,synonymous_variant,p.=,ENST00000356309,NM_017760.5;NCAPG2,synonymous_variant,p.=,ENST00000449727,;NCAPG2,synonymous_variant,p.=,ENST00000441982,;NCAPG2,synonymous_variant,p.=,ENST00000275830,;NCAPG2,synonymous_variant,p.=,ENST00000541468,;NCAPG2,downstream_gene_variant,,ENST00000474940,;NCAPG2,downstream_gene_variant,,ENST00000475918,;NCAPG2,3_prime_UTR_variant,,ENST00000432615,;NCAPG2,non_coding_transcript_exon_variant,,ENST00000467785,;							LOW	2661/3432		CNDG2_HUMAN			Transcript			.	ENSP00000348657		CCDS43686.1			1	
SLC26A10P	0	LGGM	GRCh37	12	58016912	58016912	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	77	23	.	.	ENST00000320442.4:c.1045A>G	p.Lys349Glu	p.K349E	ENST00000320442	NM_133489.2	349	Aaa/Gaa	0	1	1	UPI000007059E	0	NA	ENST00000320442		ENSG00000135502	14470		100	2.24		HGNC	p.K349E		SLC26A10		SNV							ENST00000379218	protein_coding	getma.org/?cm=var&var=hg19,12,58016912,A,G&fts=all		hmmpanther:PTHR11814:SF57,hmmpanther:PTHR11814,Pfam_domain:PF00916		K/E		G	medium	1356/2389		getma.org/?cm=msa&ty=f&p=S2610_HUMAN&rb=133&re=411&var=K349E	tolerated(0.18)				YES	SLC26A10,missense_variant,p.Lys349Glu,ENST00000379218,;SLC26A10,missense_variant,p.Lys349Glu,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000341156,NM_001478.4;B4GALNT1,downstream_gene_variant,,ENST00000418555,NM_001276468.1;B4GALNT1,downstream_gene_variant,,ENST00000547741,;AC025165.8,upstream_gene_variant,,ENST00000593846,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,missense_variant,p.Lys423Glu,ENST00000474359,;SLC26A10,missense_variant,p.Lys307Glu,ENST00000440686,;B4GALNT1,downstream_gene_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;B4GALNT1,downstream_gene_variant,,ENST00000552798,;SLC26A10,upstream_gene_variant,,ENST00000487816,;SLC26A10,upstream_gene_variant,,ENST00000474791,;SLC26A10,downstream_gene_variant,,ENST00000497297,;SLC26A10,downstream_gene_variant,,ENST00000463802,;							MODERATE	1045/1692	K349E	S2610_HUMAN			Transcript		benign(0.156)	.	ENSP00000320217		CCDS8949.2			1	
NUPL2	0	LGGM	GRCh37	7	23240228	23240228	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	86	23	.	.	ENST00000258742.5:c.1136T>G	p.Ile379Ser	p.I379S	ENST00000258742	NM_007342.2	379	aTc/aGc	0	1	1	UPI0000072A3C	0	NA	ENST00000258742		ENSG00000136243	17010		109	-1.39		HGNC	p.I379S	rs767360407	NUPL2		SNV							ENST00000258742	protein_coding	getma.org/?cm=var&var=hg19,7,23240228,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21495,hmmpanther:PTHR21495:SF42		I/S		G	neutral	1395/1795		getma.org/?cm=msa&ty=f&p=NUPL2_HUMAN&rb=235&re=423&var=I379S	tolerated(0.9)				YES	NUPL2,missense_variant,p.Ile379Ser,ENST00000258742,NM_007342.2;NUPL2,missense_variant,p.Ile404Ser,ENST00000413919,;NUPL2,downstream_gene_variant,,ENST00000487595,;NUPL2,3_prime_UTR_variant,,ENST00000438012,;NUPL2,3_prime_UTR_variant,,ENST00000437140,;NUPL2,non_coding_transcript_exon_variant,,ENST00000477844,;NUPL2,non_coding_transcript_exon_variant,,ENST00000485250,;NUPL2,non_coding_transcript_exon_variant,,ENST00000489145,;NUPL2,downstream_gene_variant,,ENST00000486136,;	0.000809						MODERATE	1136/1272	I379S	NUPL2_HUMAN			Transcript		benign(0.001)	common_variant	ENSP00000258742	5.77E-05	CCDS5379.1			1	
B3GNT1	0	LGGM	GRCh37	11	66114258	66114258	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	48	24	.	.	ENST00000311181.4:c.759C>A	p.Thr253=	p.T253=	ENST00000311181	NM_006876.2	253	acC/acA	0	1	1	UPI00000358A1	0		ENST00000311181		ENSG00000174684	15685		72			HGNC	p.T253T		B3GNT1		SNV			1				ENST00000311181	protein_coding			hmmpanther:PTHR12270:SF20,hmmpanther:PTHR12270,Pfam_domain:PF13896		T		T		906/2072				B4DGI0_HUMAN			YES	B3GNT1,synonymous_variant,p.=,ENST00000311181,NM_006876.2;BRMS1,upstream_gene_variant,,ENST00000359957,NM_015399.3;BRMS1,upstream_gene_variant,,ENST00000425825,NM_001024957.1;BRMS1,upstream_gene_variant,,ENST00000524699,;BRMS1,upstream_gene_variant,,ENST00000530756,;RP11-867G23.8,upstream_gene_variant,,ENST00000531602,;RP11-867G23.8,upstream_gene_variant,,ENST00000580881,;RP11-867G23.8,upstream_gene_variant,,ENST00000581155,;BRMS1,upstream_gene_variant,,ENST00000530238,;BRMS1,upstream_gene_variant,,ENST00000527375,;BRMS1,upstream_gene_variant,,ENST00000534617,;BRMS1,upstream_gene_variant,,ENST00000525127,;BRMS1,upstream_gene_variant,,ENST00000529544,;							LOW	759/1248		B3GN1_HUMAN			Transcript			.	ENSP00000309096		CCDS8136.1			1	
MTPAP	0	LGGM	GRCh37	10	30629261	30629261	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	60	24	.	.	ENST00000263063.4:c.449A>T	p.Asn150Ile	p.N150I	ENST00000263063	NM_018109.3	150	aAt/aTt	0	1	1	UPI0000070081	0	getma.org/pdb.php?prot=PAPD1_HUMAN&from=1&to=196&var=N150I	ENST00000263063		ENSG00000107951	25532		84	1.845		HGNC	p.N150I		MTPAP		SNV			1				ENST00000263063	protein_coding	getma.org/?cm=var&var=hg19,10,30629261,T,A&fts=all		hmmpanther:PTHR12271:SF33,hmmpanther:PTHR12271		N/I		A	low	493/5601		getma.org/?cm=msa&ty=f&p=PAPD1_HUMAN&rb=1&re=196&var=N150I	tolerated(0.08)	Q5T852_HUMAN			YES	MTPAP,missense_variant,p.Asn280Ile,ENST00000358107,;MTPAP,missense_variant,p.Asn150Ile,ENST00000263063,NM_018109.3;MTPAP,missense_variant,p.Asn85Ile,ENST00000417581,;MTPAP,missense_variant,p.Asn112Ile,ENST00000421701,;MTPAP,non_coding_transcript_exon_variant,,ENST00000488290,;							MODERATE	449/1749	N150I	PAPD1_HUMAN			Transcript		benign(0.258)	.	ENSP00000263063		CCDS7165.1			1	
PCDHB5	0	LGGM	GRCh37	5	140516565	140516565	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	82	25	.	.	ENST00000231134.5:c.1549T>C	p.Ser517Pro	p.S517P	ENST00000231134	NM_015669.2	517	Tcg/Ccg	0	1	1	UPI00001273E1	0	getma.org/pdb.php?prot=PCDB5_HUMAN&from=455&to=551&var=S517P	ENST00000231134		ENSG00000113209	8690		107	1.255		HGNC	p.S517P		PCDHB5		SNV							ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140516565,T,C&fts=all		Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		S/P		C	low	1766/2904		getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=455&re=551&var=S517P	deleterious_low_confidence(0)				YES	PCDHB5,missense_variant,p.Ser517Pro,ENST00000231134,NM_015669.2;							MODERATE	1549/2388	S517P	PCDB5_HUMAN			Transcript		benign(0.023)	.	ENSP00000231134		CCDS4247.1			1	
MRRF	0	LGGM	GRCh37	9	125047483	125047483	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	33	25	.	.	ENST00000344641.3:c.376G>T	p.Gly126Trp	p.G126W	ENST00000344641	NM_138777.3	126	Ggg/Tgg	0	1	1	UPI000007291D	0	getma.org/pdb.php?prot=RRFM_HUMAN&from=98&to=261&var=G126W	ENST00000344641		ENSG00000148187	7234		58	2.595		HGNC	p.G126W		MRRF		SNV							ENST00000373723	protein_coding	getma.org/?cm=var&var=hg19,9,125047483,G,T&fts=all		Gene3D:3.30.1360.40,Pfam_domain:PF01765,hmmpanther:PTHR20982,Superfamily_domains:SSF55194		G/W		T	medium	687/1947		getma.org/?cm=msa&ty=f&p=RRFM_HUMAN&rb=98&re=261&var=G126W	deleterious(0)				YES	MRRF,missense_variant,p.Gly126Trp,ENST00000344641,NM_138777.3;MRRF,missense_variant,p.Gly74Trp,ENST00000297908,NM_001173512.1;MRRF,missense_variant,p.Gly126Trp,ENST00000394315,NM_199177.2;MRRF,missense_variant,p.Gly126Trp,ENST00000373723,;MRRF,missense_variant,p.Gly126Trp,ENST00000373730,;MRRF,missense_variant,p.Gly126Trp,ENST00000546115,;MRRF,missense_variant,p.Gly82Trp,ENST00000373729,;MRRF,missense_variant,p.Gly126Trp,ENST00000441707,;MRRF,non_coding_transcript_exon_variant,,ENST00000373724,;MRRF,missense_variant,p.Gly126Trp,ENST00000489572,;MRRF,missense_variant,p.Gly126Trp,ENST00000470366,;MRRF,missense_variant,p.Gly126Trp,ENST00000467864,;MRRF,non_coding_transcript_exon_variant,,ENST00000373728,;MRRF,non_coding_transcript_exon_variant,,ENST00000373727,;							MODERATE	376/789	G126W	RRFM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000343867		CCDS6840.1			1	
ABCC2	0	LGGM	GRCh37	10	101611276	101611276	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	61	26	.	.	ENST00000370449.4:c.4526A>T	p.Asn1509Ile	p.N1509I	ENST00000370449	NM_000392.3	1509	aAc/aTc	0	1	1	UPI000013D6CA	0	getma.org/pdb.php?prot=MRP2_HUMAN&from=1300&to=1534&var=N1509I	ENST00000370449		ENSG00000023839	53		87	3.175		HGNC	p.N1509I		ABCC2		SNV			1				ENST00000370449	protein_coding	getma.org/?cm=var&var=hg19,10,101611276,A,T&fts=all		Gene3D:3.40.50.300,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF176,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00957		N/I		T	medium	4639/5312		getma.org/?cm=msa&ty=f&p=MRP2_HUMAN&rb=1300&re=1534&var=N1509I	deleterious(0.01)				YES	ABCC2,missense_variant,p.Asn1509Ile,ENST00000370449,NM_000392.3;							MODERATE	4526/4638	N1509I	MRP2_HUMAN			Transcript		benign(0.042)	.	ENSP00000359478		CCDS7484.1			1	
PLCL1	0	LGGM	GRCh37	2	198966015	198966015	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	56	27	.	.	ENST00000428675.1:c.2926C>G	p.Gln976Glu	p.Q976E	ENST00000428675	NM_006226.3	976	Caa/Gaa	0	1	1	UPI000165BCF5	0	NA	ENST00000428675		ENSG00000115896	9063		83	2.39		HGNC	p.Q976E		PLCL1		SNV							ENST00000428675	protein_coding	getma.org/?cm=var&var=hg19,2,198966015,C,G&fts=all		hmmpanther:PTHR10336:SF76,hmmpanther:PTHR10336		Q/E		G	medium	3324/5125		getma.org/?cm=msa&ty=f&p=PLCL1_HUMAN&rb=814&re=1013&var=Q976E	tolerated(0.28)				YES	PLCL1,missense_variant,p.Gln976Glu,ENST00000428675,NM_006226.3;PLCL1,missense_variant,p.Gln878Glu,ENST00000437704,;PLCL1,missense_variant,p.Gln902Glu,ENST00000487695,;PLCL1,3_prime_UTR_variant,,ENST00000435320,;							MODERATE	2926/3288	Q976E	PLCL1_HUMAN			Transcript		benign(0.146)	.	ENSP00000402861		CCDS2326.2			1	
RNF139	0	LGGM	GRCh37	8	125498796	125498796	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	42	28	.	.	ENST00000303545.3:c.906C>T	p.Ala302=	p.A302=	ENST00000303545	NM_007218.3	302	gcC/gcT	0	1	1	UPI0000071331	0		ENST00000303545		ENSG00000170881	17023		70			HGNC	p.A302A		RNF139		SNV			1				ENST00000303545	protein_coding			Pfam_domain:PF13705,hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF75,Transmembrane_helices:TMhelix		A		T		1278/2637				E5RH85_HUMAN			YES	RNF139,synonymous_variant,p.=,ENST00000303545,NM_007218.3;TATDN1,downstream_gene_variant,,ENST00000276692,NM_032026.3;TATDN1,downstream_gene_variant,,ENST00000522810,;TATDN1,downstream_gene_variant,,ENST00000519548,NM_001146160.1;RNF139,downstream_gene_variant,,ENST00000517684,;RP11-158K1.3,upstream_gene_variant,,ENST00000518639,;TATDN1,downstream_gene_variant,,ENST00000523631,;TATDN1,downstream_gene_variant,,ENST00000523214,;TATDN1,downstream_gene_variant,,ENST00000522927,;							LOW	906/1995		RN139_HUMAN			Transcript			.	ENSP00000304051		CCDS6350.1			1	
OR5H1	0	LGGM	GRCh37	3	97851663	97851663	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	105	28	.	.	ENST00000354565.2:c.122G>T	p.Gly41Val	p.G41V	ENST00000354565	NM_001005338.1	41	gGg/gTg	0	1	1	UPI0000197652	0	getma.org/pdb.php?prot=OR5H1_HUMAN&from=1&to=138&var=G41V	ENST00000354565		ENSG00000231192	8346		133	3.76		HGNC	p.G41V		OR5H1		SNV							ENST00000354565	protein_coding	getma.org/?cm=var&var=hg19,3,97851663,G,T&fts=all		Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF135,PROSITE_profiles:PS50262		G/V		T	high	122/942		getma.org/?cm=msa&ty=f&p=OR5H1_HUMAN&rb=1&re=138&var=G41V	deleterious(0)				YES	OR5H1,missense_variant,p.Gly41Val,ENST00000354565,NM_001005338.1;RP11-343D2.11,intron_variant,,ENST00000508964,;							MODERATE	122/942	G41V	OR5H1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000346575		CCDS33797.1			1	
TP53	0	LGGM	GRCh37	17	7572963	7572963	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	23	29	.	.	ENST00000269305.4:c.1146A>G	p.Lys382=	p.K382=	ENST00000269305	NM_001126112.2	382	aaA/aaG	0	1	1	UPI000002ED67	0		ENST00000269305		ENSG00000141510	11998		52			HGNC	p.K382K		TP53		SNV			1				ENST00000269305	protein_coding			hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6		K		C		1336/2579				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			YES	TP53,synonymous_variant,p.=,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,synonymous_variant,p.=,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;TP53,3_prime_UTR_variant,,ENST00000576024,;TP53,intron_variant,,ENST00000359597,;TP53,intron_variant,,ENST00000413465,;TP53,downstream_gene_variant,,ENST00000509690,;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,;							LOW	1146/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	
NBEA	0	LGGM	GRCh37	13	36124666	36124666	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	132	29	.	.	ENST00000400445.3:c.6638G>T	p.Arg2213Leu	p.R2213L	ENST00000400445	NM_015678.4	2213	cGa/cTa	0	1	1	UPI00004FF92F	0	getma.org/pdb.php?prot=NBEA_HUMAN&from=2134&to=2285&var=R2213L	ENST00000400445		ENSG00000172915	7648		161	2.885		HGNC	p.R6L		NBEA		SNV							ENST00000537702	protein_coding	getma.org/?cm=var&var=hg19,13,36124666,G,T&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Gene3D:1t77A01,Pfam_domain:PF14844,Superfamily_domains:SSF50729		R/L		T	medium	7172/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=2134&re=2285&var=R2213L	deleterious(0)				YES	NBEA,missense_variant,p.Arg2213Leu,ENST00000540320,;NBEA,missense_variant,p.Arg2213Leu,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Arg2213Leu,ENST00000310336,;NBEA,missense_variant,p.Arg2210Leu,ENST00000379939,;NBEA,missense_variant,p.Arg6Leu,ENST00000537702,NM_001204197.1;							MODERATE	6638/8841	R2213L	NBEA_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000383295		CCDS45026.1			1	
KNCN	0	LGGM	GRCh37	1	47016765	47016765	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	67	30	.	.	ENST00000396314.3:c.123C>T	p.Gly41=	p.G41=	ENST00000396314	NM_001097611.1	41	ggC/ggT	0	1		UPI000155D48B	0		ENST00000481882		ENSG00000162456	26488		97			HGNC	p.G41G	rs759454817	KNCN	0.000123	SNV							ENST00000481882	protein_coding			Transmembrane_helices:TMhelix,Pfam_domain:PF15033		G		A		435/1037	1.51E-05							KNCN,synonymous_variant,p.=,ENST00000481882,;KNCN,synonymous_variant,p.=,ENST00000396314,NM_001097611.1;MKNK1-AS1,intron_variant,,ENST00000602433,;KNCN,upstream_gene_variant,,ENST00000524908,;KNCN,upstream_gene_variant,,ENST00000294445,;							LOW	123/375		KNCN_HUMAN			Transcript			.	ENSP00000419705	2.48E-05				1	
GOSR1	0	LGGM	GRCh37	17	28811255	28811255	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	69	30	.	.	ENST00000225724.5:c.176A>G	p.Asn59Ser	p.N59S	ENST00000225724	NM_001007024.1	59	aAt/aGt	0	1	1	UPI000012BB6B	0	NA	ENST00000225724		ENSG00000108587	4430		99	-0.19		HGNC	p.N57S		GOSR1		SNV							ENST00000427274	protein_coding	getma.org/?cm=var&var=hg19,17,28811255,A,G&fts=all		hmmpanther:PTHR21094,PIRSF_domain:PIRSF027109		N/S		G	neutral	248/6039		getma.org/?cm=msa&ty=f&p=GOSR1_HUMAN&rb=1&re=160&var=N59S	tolerated(0.51)	Q9BZZ3_HUMAN			YES	GOSR1,missense_variant,p.Asn59Ser,ENST00000225724,NM_001007024.1,NM_001007025.1,NM_004871.2;GOSR1,missense_variant,p.Asn57Ser,ENST00000451249,;GOSR1,missense_variant,p.Asn64Ser,ENST00000414833,;GOSR1,missense_variant,p.Asn59Ser,ENST00000581721,;GOSR1,5_prime_UTR_variant,,ENST00000467337,;GOSR1,downstream_gene_variant,,ENST00000579905,;GOSR1,missense_variant,p.Asn57Ser,ENST00000427274,;GOSR1,3_prime_UTR_variant,,ENST00000537788,;GOSR1,non_coding_transcript_exon_variant,,ENST00000491489,;GOSR1,non_coding_transcript_exon_variant,,ENST00000467635,;							MODERATE	176/753	N59S	GOSR1_HUMAN			Transcript		benign(0.003)	.	ENSP00000225724		CCDS11258.1			1	
PPP4R4	0	LGGM	GRCh37	14	94741721	94741721	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	48	31	.	.	ENST00000304338.3:c.2460C>T	p.Phe820=	p.F820=	ENST00000304338	NM_058237.1	820	ttC/ttT	0	1	1	UPI000016223B	0		ENST00000304338		ENSG00000119698	23788		79			HGNC	p.F820F		PPP4R4		SNV							ENST00000304338	protein_coding			hmmpanther:PTHR21467		F		T		2614/3868				G3V431_HUMAN,G3V422_HUMAN			YES	PPP4R4,synonymous_variant,p.=,ENST00000304338,NM_058237.1;							LOW	2460/2622		PP4R4_HUMAN			Transcript			.	ENSP00000305924		CCDS9921.1			1	
FEZ2	0	LGGM	GRCh37	2	36810579	36810579	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	93	31	.	.	ENST00000379245.4:c.409G>A	p.Asp137Asn	p.D137N	ENST00000379245	NM_001042548.1	137	Gat/Aat	0	1		UPI00002317C8	0	NA	ENST00000405912		ENSG00000171055	3660		124	2.545		HGNC	p.D36N		FEZ2		SNV							ENST00000413938	protein_coding	getma.org/?cm=var&var=hg19,2,36810579,C,T&fts=all		Pfam_domain:PF07763,hmmpanther:PTHR12394,hmmpanther:PTHR12394:SF11		D/N		T	medium	409/1931		getma.org/?cm=msa&ty=f&p=FEZ2_HUMAN&rb=46&re=289&var=D137N	tolerated(0.05)	Q7Z674_HUMAN,Q6P2J5_HUMAN,F8WB37_HUMAN,F8W6C0_HUMAN				FEZ2,missense_variant,p.Asp137Asn,ENST00000379245,NM_001042548.1;FEZ2,missense_variant,p.Asp137Asn,ENST00000405912,NM_005102.2;FEZ2,missense_variant,p.Asp36Asn,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.Asp36Asn,ENST00000413938,;FEZ2,missense_variant,p.Asp137Asn,ENST00000451623,;FEZ2,upstream_gene_variant,,ENST00000414288,;							MODERATE	409/1062	D137N	FEZ2_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000385112		CCDS46257.1			1	
PPP1R9A	0	LGGM	GRCh37	7	94913520	94913520	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	87	31	.	.	ENST00000433360.1:c.3487G>A	p.Gly1163Arg	p.G1163R	ENST00000433360	NM_001166160.1	1163	Ggg/Agg	0	1		UPI00003BF75D	0	NA	ENST00000340694		ENSG00000158528	14946		118	0.895		HGNC	p.G1163R		PPP1R9A		SNV							ENST00000433360	protein_coding	getma.org/?cm=var&var=hg19,7,94913520,G,A&fts=all						A	low	-/9689		getma.org/?cm=msa&ty=f&p=B2RWQ1_HUMAN&rb=711&re=1249&var=G1163R		C9J730_HUMAN,C9J3G5_HUMAN,B7ZLX4_HUMAN				PPP1R9A,missense_variant,p.Gly1123Arg,ENST00000289495,NM_001166161.1;PPP1R9A,missense_variant,p.Gly1141Arg,ENST00000456331,NM_001166162.1;PPP1R9A,missense_variant,p.Gly1163Arg,ENST00000433360,NM_001166160.1;PPP1R9A,missense_variant,p.Gly1141Arg,ENST00000424654,;PPP1R9A,intron_variant,,ENST00000433881,;PPP1R9A,intron_variant,,ENST00000340694,NM_001166163.1,NM_017650.2;							MODIFIER	-/3297	G1163R	NEB1_HUMAN			Transcript			.	ENSP00000344524		CCDS34683.1			1	
ZNF274	0	LGGM	GRCh37	19	58723904	58723904	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	166	32	.	.	ENST00000326804.4:c.1354C>T	p.Arg452Cys	p.R452C	ENST00000326804	NM_133502.2	452	Cgt/Tgt	0	1	1	UPI000013D855	0		ENST00000326804		ENSG00000171606	13068		198			HGNC	p.R452C	rs757676940,COSM475411	ZNF274	6.06E-05	SNV						0,1	ENST00000326804	protein_coding			hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF47		R/C		T		1813/2836	3.00E-05		tolerated(0.2)	M0QY30_HUMAN,M0QXW4_HUMAN			YES	ZNF274,missense_variant,p.Arg452Cys,ENST00000326804,NM_133502.2,NM_001278734.1;ZNF274,missense_variant,p.Arg420Cys,ENST00000345813,NM_016325.3,NM_001278735.1;ZNF274,missense_variant,p.Arg347Cys,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,;					0,1		MODERATE	1354/1959		ZN274_HUMAN			Transcript		benign(0.001)	.	ENSP00000321209	2.48E-05				1	
SLC26A2	0	LGGM	GRCh37	5	149360750	149360750	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	96	35	.	.	ENST00000286298.4:c.1594C>A	p.Leu532Ile	p.L532I	ENST00000286298	NM_000112.3	532	Ctt/Att	0	1	1	UPI000013DE3D	0	NA	ENST00000286298		ENSG00000155850	10994		131	2.17		HGNC	p.L532I		SLC26A2		SNV			1				ENST00000286298	protein_coding	getma.org/?cm=var&var=hg19,5,149360750,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF16,TIGRFAM_domain:TIGR00815		L/I		A	medium	1862/8080		getma.org/?cm=msa&ty=f&p=S26A2_HUMAN&rb=515&re=568&var=L532I	tolerated(0.08)	H0YA38_HUMAN,C9JAN6_HUMAN			YES	SLC26A2,missense_variant,p.Leu532Ile,ENST00000286298,NM_000112.3;SLC26A2,intron_variant,,ENST00000503336,;SLC26A2,downstream_gene_variant,,ENST00000433184,;							MODERATE	1594/2220	L532I	S26A2_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000286298		CCDS4300.1			1	
FGA	0	LGGM	GRCh37	4	155505668	155505668	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	63	36	.	.	ENST00000302053.3:c.2209T>C	p.Tyr737His	p.Y737H	ENST00000302053	NM_000508.3	737	Tat/Cat	0	1	1	UPI000012A75A	0	getma.org/pdb.php?prot=FIBA_HUMAN&from=628&to=863&var=Y737H	ENST00000302053		ENSG00000171560	3661		99	1.52		HGNC	p.Y737H	COSM3946089	FGA		SNV			1			1	ENST00000302053	protein_coding	getma.org/?cm=var&var=hg19,4,155505668,A,G&fts=all		Gene3D:3.90.215.10,Pfam_domain:PF00147,PROSITE_profiles:PS51406,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF172,SMART_domains:SM00186,Superfamily_domains:SSF56496		Y/H		G	low	2288/3678		getma.org/?cm=msa&ty=f&p=FIBA_HUMAN&rb=628&re=863&var=Y737H	deleterious(0.03)	Q86Z09_HUMAN			YES	FGA,missense_variant,p.Tyr737His,ENST00000302053,NM_000508.3;FGA,downstream_gene_variant,,ENST00000403106,NM_021871.2;					1		MODERATE	2209/2601	Y737H	FIBA_HUMAN			Transcript		benign(0.369)	.	ENSP00000306361		CCDS3787.1			1	
CEP350	0	LGGM	GRCh37	1	180062854	180062854	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111720	H111720N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	161	36	.	.	ENST00000367607.3:c.7614C>T	p.Asn2538=	p.N2538=	ENST00000367607	NM_014810.4	2538	aaC/aaT	0	1	1	UPI000013CFC5	0		ENST00000367607		ENSG00000135837	24238		197			HGNC	p.N2538N		CEP350		SNV							ENST00000367607	protein_coding			Gene3D:2.30.30.190,Pfam_domain:PF01302,PROSITE_patterns:PS00845,PROSITE_profiles:PS50245,hmmpanther:PTHR13958,SMART_domains:SM01052,Superfamily_domains:SSF74924		N		T		8032/13491				Q5T2X4_HUMAN			YES	CEP350,synonymous_variant,p.=,ENST00000367607,NM_014810.4;CEP350,synonymous_variant,p.=,ENST00000429851,;CEP350,synonymous_variant,p.=,ENST00000417046,;CEP350,non_coding_transcript_exon_variant,,ENST00000490141,;CEP350,upstream_gene_variant,,ENST00000496440,;CEP350,downstream_gene_variant,,ENST00000484356,;							LOW	7614/9354		CE350_HUMAN			Transcript			.	ENSP00000356579		CCDS1336.1			1	
ZNF284	0	LGGM	GRCh37	19	44590055	44590055	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	117	39	.	.	ENST00000421176.3:c.424A>G	p.Ile142Val	p.I142V	ENST00000421176	NM_001037813.2	142	Ata/Gta	0	1	1	UPI00005788EA	0	NA	ENST00000421176		ENSG00000186026	13078		156	0.31		HGNC	p.I142V		ZNF284		SNV							ENST00000421176	protein_coding	getma.org/?cm=var&var=hg19,19,44590055,A,G&fts=all		hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF2		I/V		G	neutral	640/4351		getma.org/?cm=msa&ty=f&p=ZN284_HUMAN&rb=49&re=191&var=I142V	tolerated(0.27)				YES	ZNF284,missense_variant,p.Ile142Val,ENST00000421176,NM_001037813.2;RNU6-902P,upstream_gene_variant,,ENST00000517212,;ZNF223,3_prime_UTR_variant,,ENST00000591793,;							MODERATE	424/1782	I142V	ZN284_HUMAN			Transcript		benign(0.002)	.	ENSP00000411032		CCDS46099.1			1	
OR4M2	0	LGGM	GRCh37	15	22368663	22368663	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111720	H111720N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	199	42	.	.	ENST00000332663.2:c.88A>G	p.Ile30Val	p.I30V	ENST00000332663	NM_001004719.2	30	Ata/Gta	0	1	1	UPI0000046191	0	getma.org/pdb.php?prot=OR4M2_HUMAN&from=1&to=138&var=I30V	ENST00000332663		ENSG00000182974	15373		241	0.31		HGNC	p.I30V	rs764558853	OR4M2		SNV							ENST00000332663	protein_coding	getma.org/?cm=var&var=hg19,15,22368663,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26451:SF53,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/V		G	neutral	186/1084	1.50E-05	getma.org/?cm=msa&ty=f&p=OR4M2_HUMAN&rb=1&re=138&var=I30V	tolerated(0.57)				YES	OR4M2,missense_variant,p.Ile30Val,ENST00000332663,NM_001004719.2;RP11-69H14.6,intron_variant,,ENST00000558896,;RP11-69H14.6,intron_variant,,ENST00000558312,;RP11-69H14.6,intron_variant,,ENST00000560544,;RP11-69H14.6,intron_variant,,ENST00000558798,;RP11-69H14.6,intron_variant,,ENST00000559392,;RP11-69H14.6,intron_variant,,ENST00000560969,;	0.000116						MODERATE	88/942	I30V	OR4M2_HUMAN			Transcript		benign(0)	.	ENSP00000329467	1.65E-05	CCDS32172.1			1	
UGT1A9	0	LGGM	GRCh37	2	234580997	234580997	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111720	H111720N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	73	48	.	.	ENST00000354728.4:c.417G>T	p.Glu139Asp	p.E139D	ENST00000354728		139	gaG/gaT	0	1	1	UPI0000044213	0	NA	ENST00000354728		ENSG00000241119	12541		121	0.975		HGNC	p.E139D		UGT1A9		SNV							ENST00000354728	protein_coding	getma.org/?cm=var&var=hg19,2,234580997,G,T&fts=all		hmmpanther:PTHR11926,hmmpanther:PTHR11926:SF138,Pfam_domain:PF00201,Superfamily_domains:SSF53756		E/D		T	low	499/2416		getma.org/?cm=msa&ty=f&p=UD19_HUMAN&rb=26&re=521&var=E139D	tolerated(0.23)	Q5DSZ5_HUMAN,Q53E75_HUMAN,A9UKF4_HUMAN			YES	UGT1A9,missense_variant,p.Glu139Asp,ENST00000354728,;UGT1A8,missense_variant,p.Glu139Asp,ENST00000609637,NM_021027.2;UGT1A10,intron_variant,,ENST00000344644,NM_019075.2;UGT1A8,intron_variant,,ENST00000373450,NM_019076.4;UGT1A10,intron_variant,,ENST00000373445,;							MODERATE	417/1593	E139D	UD19_HUMAN			Transcript		benign(0.007)	.	ENSP00000346768		CCDS2505.1			1	
SPHKAP	0	LGGM	GRCh37	2	228884696	228884696	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H111720	H111720N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111720N.bam, H111720T.bam	Illumina HiSeq	97	84	.	.	ENST00000392056.3:c.874A>T	p.Lys292Ter	p.K292*	ENST00000392056	NM_001142644.1	292	Aag/Tag	0	1	1	UPI0000411D7E	0	NA	ENST00000392056		ENSG00000153820	30619		181	0		HGNC	p.K292X		SPHKAP		SNV							ENST00000344657	protein_coding	getma.org/?cm=var&var=hg19,2,228884696,T,A&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF7		K/*		A	NA	921/6917		NA					YES	SPHKAP,stop_gained,p.Lys292Ter,ENST00000392056,NM_001142644.1;SPHKAP,stop_gained,p.Lys292Ter,ENST00000344657,NM_030623.3;							HIGH	874/5103	K292*	SPKAP_HUMAN			Transcript			.	ENSP00000375909		CCDS46537.1			1	
SSH1	0	LGGM	GRCh37	12	109201559	109201559	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	11	3	.	.	ENST00000326495.5:c.581G>A	p.Arg194Lys	p.R194K	ENST00000326495	NM_018984.3	194	aGg/aAg	0	1	1	UPI000003E894	0	NA	ENST00000326495		ENSG00000084112	30579		14	1.445		HGNC	p.R205K		SSH1		SNV							ENST00000326470	protein_coding	getma.org/?cm=var&var=hg19,12,109201559,C,T&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138		R/K		T	low	675/8538		getma.org/?cm=msa&ty=f&p=SSH1_HUMAN&rb=1&re=200&var=R194K	tolerated(0.09)				YES	SSH1,missense_variant,p.Arg194Lys,ENST00000326495,NM_018984.3;SSH1,missense_variant,p.Arg205Lys,ENST00000326470,NM_001161331.1;SSH1,missense_variant,p.Arg194Lys,ENST00000551165,NM_001161330.1;SSH1,5_prime_UTR_variant,,ENST00000360239,;SSH1,downstream_gene_variant,,ENST00000546697,;SSH1,downstream_gene_variant,,ENST00000546812,;SSH1,3_prime_UTR_variant,,ENST00000548522,;SSH1,non_coding_transcript_exon_variant,,ENST00000547862,;SSH1,upstream_gene_variant,,ENST00000546433,;SSH1,downstream_gene_variant,,ENST00000547381,;							MODERATE	581/3150	R194K	SSH1_HUMAN			Transcript		benign(0.053)	.	ENSP00000315713		CCDS9121.1			1	
SHROOM4	0	LGGM	GRCh37	X	50350575	50350575	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	29	3	.	.	ENST00000376020.2:c.3567C>T	p.Gly1189=	p.G1189=	ENST00000376020	NM_020717.3	1189	ggC/ggT	0	1		UPI00001C2068	0		ENST00000289292		ENSG00000158352	29215		32			HGNC	p.G1073G		SHROOM4		SNV			1				ENST00000460112	protein_coding			hmmpanther:PTHR15012:SF31,hmmpanther:PTHR15012		G		A		3851/6261								SHROOM4,synonymous_variant,p.=,ENST00000376020,NM_020717.3;SHROOM4,synonymous_variant,p.=,ENST00000460112,;SHROOM4,synonymous_variant,p.=,ENST00000289292,;							LOW	3567/4482		SHRM4_HUMAN			Transcript			.	ENSP00000289292		CCDS35277.1			1	
EDF1	0	LGGM	GRCh37	9	139757327	139757327	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	27	3	.	.	ENST00000224073.1:c.385+31G>T		*129*	ENST00000224073	NM_001281298.1			0	1	1	UPI000006E4E4	0		ENST00000224073		ENSG00000107223	3164		30			HGNC	p.R139L		EDF1		SNV							ENST00000371648	protein_coding							A		-/640							YES	EDF1,missense_variant,p.Arg139Leu,ENST00000371648,NM_153200.2;EDF1,intron_variant,,ENST00000371649,NM_001281297.1;EDF1,intron_variant,,ENST00000224073,NM_001281298.1,NM_003792.3,NM_001281299.1;MAMDC4,downstream_gene_variant,,ENST00000445819,;MAMDC4,downstream_gene_variant,,ENST00000317446,NM_206920.2;MAMDC4,downstream_gene_variant,,ENST00000485732,;MAMDC4,downstream_gene_variant,,ENST00000479475,;							MODIFIER	-/447		EDF1_HUMAN			Transcript			.	ENSP00000224073		CCDS7011.1			1	
SYNE2	0	LGGM	GRCh37	14	64628816	64628816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	47	3	.	.	ENST00000358025.3:c.16121C>A	p.Ala5374Glu	p.A5374E	ENST00000358025	NM_182914.2	5374	gCa/gAa	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		50	2.005		HGNC	p.A1759E		SYNE2		SNV			1				ENST00000394768	protein_coding	getma.org/?cm=var&var=hg19,14,64628816,C,A&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966		A/E		A	medium	16333/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=5279&re=5478&var=A5374E		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Ala1759Glu,ENST00000357395,;SYNE2,missense_variant,p.Ala5374Glu,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Ala5374Glu,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Ala5291Glu,ENST00000554584,;SYNE2,missense_variant,p.Ala2008Glu,ENST00000555002,;SYNE2,missense_variant,p.Ala1759Glu,ENST00000394768,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000556275,;SYNE2,upstream_gene_variant,,ENST00000556342,;SYNE2,missense_variant,p.Ala336Glu,ENST00000555612,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557024,;SYNE2,upstream_gene_variant,,ENST00000553289,;							MODERATE	16121/20658	A5374E	SYNE2_HUMAN			Transcript		benign(0.318)	.	ENSP00000341781		CCDS41963.1			1	
TRPM4	0	LGGM	GRCh37	19	49703585	49703585	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	20	3	.	.	ENST00000252826.5:c.2674C>G	p.Arg892Gly	p.R892G	ENST00000252826	NM_017636.3	892	Cgc/Ggc	0	1	1	UPI0000070598	0	NA	ENST00000252826		ENSG00000130529	17993		23	2.925		HGNC	p.R747G		TRPM4		SNV			1				ENST00000427978	protein_coding	getma.org/?cm=var&var=hg19,19,49703585,C,G&fts=all		Pfam_domain:PF00520,hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6,Transmembrane_helices:TMhelix		R/G		G	medium	2800/4109		getma.org/?cm=msa&ty=f&p=TRPM4_HUMAN&rb=812&re=954&var=R892G	deleterious(0)				YES	TRPM4,missense_variant,p.Arg892Gly,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.Arg747Gly,ENST00000427978,NM_001195227.1;TRPM4,missense_variant,p.Arg538Gly,ENST00000355712,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,downstream_gene_variant,,ENST00000595882,;							MODERATE	2674/3645	R892G	TRPM4_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000252826		CCDS33073.1			1	
C9orf89	0	LGGM	GRCh37	9	95875308	95875308	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	37	3	.	.	ENST00000375464.2:c.471C>A	p.Leu157=	p.L157=	ENST00000375464	NM_032310.3	157	ctC/ctA	0	1		UPI0000073C99	0		ENST00000466409		ENSG00000165233	28148		40			HGNC	p.L157L		C9orf89		SNV							ENST00000375464	nonsense_mediated_decay							A		2035/2291								C9orf89,synonymous_variant,p.=,ENST00000375464,NM_032310.3;C9orf89,non_coding_transcript_exon_variant,,ENST00000488630,;C9orf89,non_coding_transcript_exon_variant,,ENST00000490488,;C9orf89,non_coding_transcript_exon_variant,,ENST00000468781,;C9orf89,downstream_gene_variant,,ENST00000495641,;C9orf89,downstream_gene_variant,,ENST00000498243,;C9orf89,downstream_gene_variant,,ENST00000466929,;C9orf89,downstream_gene_variant,,ENST00000475574,;C9orf89,3_prime_UTR_variant,,ENST00000466409,;							MODIFIER	-/687		BINCA_HUMAN			Transcript			.	ENSP00000437237					1	
TMEM127	0	LGGM	GRCh37	2	96919650	96919650	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	22	3	.	.	ENST00000258439.3:c.613G>T	p.Glu205Ter	p.E205*	ENST00000258439	NM_001193304.2	205	Gag/Tag	0	1	1	UPI000000D96F	0	NA	ENST00000258439		ENSG00000135956	26038		25	0		HGNC	p.E205X		TMEM127		SNV			1				ENST00000432959	protein_coding	getma.org/?cm=var&var=hg19,2,96919650,C,A&fts=all		Low_complexity_(Seg):seg		E/*		A	NA	870/6266		NA		C9J4H2_HUMAN			YES	TMEM127,stop_gained,p.Glu205Ter,ENST00000258439,NM_001193304.2,NM_017849.3;TMEM127,stop_gained,p.Glu205Ter,ENST00000432959,;TMEM127,stop_gained,p.Glu121Ter,ENST00000435268,;							HIGH	613/717	E205*	TM127_HUMAN			Transcript			.	ENSP00000258439		CCDS2018.1			1	
DHX30	0	LGGM	GRCh37	3	47887202	47887202	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	16	3	.	.	ENST00000445061.1:c.952G>T	p.Val318Leu	p.V318L	ENST00000445061	NM_138615.2	318	Gtg/Ttg	0	1	1	UPI000007112B	0	getma.org/pdb.php?prot=DHX30_HUMAN&from=201&to=400&var=V318L	ENST00000445061		ENSG00000132153	16716		19	0.125		HGNC	p.V279L		DHX30		SNV							ENST00000446256	protein_coding	getma.org/?cm=var&var=hg19,3,47887202,G,T&fts=all		hmmpanther:PTHR18934:SF109,hmmpanther:PTHR18934		V/L		T	neutral	1359/4065		getma.org/?cm=msa&ty=f&p=DHX30_HUMAN&rb=201&re=400&var=V318L	tolerated(1)	H7BXY3_HUMAN			YES	DHX30,missense_variant,p.Val279Leu,ENST00000446256,NM_014966.3;DHX30,missense_variant,p.Val318Leu,ENST00000445061,NM_138615.2;DHX30,missense_variant,p.Val290Leu,ENST00000348968,;DHX30,missense_variant,p.Val346Leu,ENST00000457607,;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,non_coding_transcript_exon_variant,,ENST00000461905,;DHX30,3_prime_UTR_variant,,ENST00000395745,;DHX30,downstream_gene_variant,,ENST00000441384,;DHX30,upstream_gene_variant,,ENST00000474183,;							MODERATE	952/3585	V318L	DHX30_HUMAN			Transcript		benign(0.002)	.	ENSP00000405620		CCDS2759.1			1	
LAMC3	0	LGGM	GRCh37	9	133928294	133928294	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	23	3	.	.	ENST00000361069.4:c.1881G>A	p.Arg627=	p.R627=	ENST00000361069	NM_006059.3	627	cgG/cgA	0	1	1	UPI000013D6D3	0		ENST00000361069		ENSG00000050555	6494		26			HGNC	p.R627R		LAMC3		SNV			1				ENST00000361069	protein_coding			Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF240,SMART_domains:SM00281		R		A		2014/6133				Q5JTC4_HUMAN			YES	LAMC3,synonymous_variant,p.=,ENST00000361069,NM_006059.3;LAMC3,intron_variant,,ENST00000480883,;							LOW	1881/4728		LAMC3_HUMAN			Transcript			.	ENSP00000354360		CCDS6938.1			1	
SNX16	0	LGGM	GRCh37	8	82714614	82714614	+	splice_donor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	16	4	.	.	ENST00000396330.2:c.938+1G>T		p.X313_splice	ENST00000396330	NM_022133.3			0	1		UPI000004D24C	0		ENST00000345957		ENSG00000104497	14980		20			HGNC	-	rs756517615	SNX16		SNV				0.000207			ENST00000353788	protein_coding							A		-/1853				E5RJ81_HUMAN,E5RJ65_HUMAN,E5RHF1_HUMAN,E5RGQ6_HUMAN				SNX16,splice_donor_variant,,ENST00000396330,NM_022133.3;SNX16,splice_donor_variant,,ENST00000353788,NM_152837.2;SNX16,splice_donor_variant,,ENST00000345957,NM_152836.2;SNX16,downstream_gene_variant,,ENST00000520618,;RP13-923O23.6,intron_variant,,ENST00000524337,;							HIGH	938/1035		SNX16_HUMAN			Transcript			.	ENSP00000322652	1.65E-05	CCDS6234.1			1	
ANK1	0	LGGM	GRCh37	8	41551605	41551605	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	8	4	.	.	ENST00000265709.8:c.3466G>A	p.Asp1156Asn	p.D1156N	ENST00000265709	NM_001142446.1	1156	Gat/Aat	0	1		UPI000013DF99	0	getma.org/pdb.php?prot=ANK1_HUMAN&from=1067&to=1233&var=D1115N	ENST00000347528		ENSG00000029534	492		12	2.16		HGNC	p.D1115N		ANK1		SNV			1				ENST00000289734	protein_coding	getma.org/?cm=var&var=hg19,8,41551605,C,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF11		D/N		T	medium	3427/8237		getma.org/?cm=msa&ty=f&p=ANK1_HUMAN&rb=1067&re=1233&var=D1115N	deleterious(0.02)	Q9UMG4_HUMAN				ANK1,missense_variant,p.Asp1115Asn,ENST00000396942,;ANK1,missense_variant,p.Asp1115Asn,ENST00000289734,NM_000037.3;ANK1,missense_variant,p.Asp1115Asn,ENST00000347528,NM_020477.2,NM_020476.2,NM_020475.2;ANK1,missense_variant,p.Asp1115Asn,ENST00000352337,;ANK1,missense_variant,p.Asp1115Asn,ENST00000379758,;ANK1,missense_variant,p.Asp1115Asn,ENST00000396945,;ANK1,missense_variant,p.Asp1156Asn,ENST00000265709,NM_001142446.1;ANK1,missense_variant,p.Asp437Asn,ENST00000520299,;ANK1,non_coding_transcript_exon_variant,,ENST00000524227,;ANK1,non_coding_transcript_exon_variant,,ENST00000524069,;ANK1,upstream_gene_variant,,ENST00000518061,;							MODERATE	3343/5646	D1115N	ANK1_HUMAN			Transcript		benign(0.283)	.	ENSP00000339620		CCDS6119.1			1	
MROH2A	0	LGGM	GRCh37	2	234740923	234740923	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	44	4	.	.	ENST00000389758.3:c.4835C>T	p.Ala1612Val	p.A1612V	ENST00000389758		1612	gCa/gTa	0	1	1	UPI0003B9285E	0	NA	ENST00000389758		ENSG00000185038	27936		48	1.79		HGNC	p.A1614V		MROH2A		SNV							ENST00000389758	protein_coding	getma.org/?cm=var&var=hg19,2,234740923,C,T&fts=all		hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF14,Superfamily_domains:SSF48371		A/V		T	low	5001/5355		getma.org/?cm=msa&ty=f&p=HTRB1_HUMAN&rb=1&re=1704&var=A1644V	deleterious(0.01)	F8VUA0_HUMAN,C9IYW5_HUMAN			YES	MROH2A,missense_variant,p.Ala1612Val,ENST00000389758,;HJURP,downstream_gene_variant,,ENST00000411486,NM_018410.3;HJURP,downstream_gene_variant,,ENST00000432087,NM_001282962.1;HJURP,downstream_gene_variant,,ENST00000441687,NM_001282963.1;MROH2A,splice_region_variant,,ENST00000487979,;HJURP,downstream_gene_variant,,ENST00000433484,;							MODERATE	4835/5025	A1644V				Transcript		possibly_damaging(0.558)	.	ENSP00000374408					1	
BAZ2A	0	LGGM	GRCh37	12	56995792	56995792	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	4	4	.	.	ENST00000551812.1:c.3615T>C	p.Leu1205=	p.L1205=	ENST00000551812	NM_013449.3	1205	ctT/ctC	0	1	1	UPI0000D4FED1	0		ENST00000551812		ENSG00000076108	962		8			HGNC	p.L1205L	rs572858995	BAZ2A		SNV							ENST00000551812	protein_coding		G:0	hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		L		G		3809/8600				F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN	G:0	G:0.001	YES	BAZ2A,synonymous_variant,p.=,ENST00000179765,;BAZ2A,synonymous_variant,p.=,ENST00000379441,;BAZ2A,synonymous_variant,p.=,ENST00000551812,NM_013449.3;BAZ2A,synonymous_variant,p.=,ENST00000549884,;BAZ2A,synonymous_variant,p.=,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,downstream_gene_variant,,ENST00000549763,;BAZ2A,downstream_gene_variant,,ENST00000548578,;BAZ2A,downstream_gene_variant,,ENST00000551759,;		G:0.0002					LOW	3615/5718		BAZ2A_HUMAN		G:0	Transcript			.	ENSP00000446880		CCDS44924.1		G:0	1	
KCNV1	0	LGGM	GRCh37	8	110980828	110980828	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	27	4	.	.	ENST00000524391.1:c.992G>T	p.Gly331Val	p.G331V	ENST00000524391		331	gGa/gTa	0	1		UPI0000073DA5	0	getma.org/pdb.php?prot=KCNV1_HUMAN&from=244&to=427&var=G331V	ENST00000297404		ENSG00000164794	18861		31	3.235		HGNC	p.G331V		KCNV1		SNV							ENST00000524391	protein_coding	getma.org/?cm=var&var=hg19,8,110980828,C,A&fts=all		Gene3D:1.10.287.70,Pfam_domain:PF00520,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF38,Superfamily_domains:SSF81324		G/V		A	medium	1334/2927		getma.org/?cm=msa&ty=f&p=KCNV1_HUMAN&rb=244&re=427&var=G331V	deleterious(0)	Q76FP2_HUMAN,B4DMC1_HUMAN				KCNV1,missense_variant,p.Gly331Val,ENST00000524391,;KCNV1,missense_variant,p.Gly331Val,ENST00000297404,NM_014379.2;							MODERATE	992/1503	G331V	KCNV1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297404		CCDS6314.1			1	
LONP2	0	LGGM	GRCh37	16	48395716	48395716	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	37	4	.	.	ENST00000356721.3:c.717C>T	p.Ile239=	p.I239=	ENST00000356721	NM_001006610.1	239	atC/atT	0	1		UPI000000DCD1	0		ENST00000285737		ENSG00000102910	20598	0.00207	41		4456	HGNC	p.I208I	rs764148723	LONP2		SNV							ENST00000380006	protein_coding							A		-/8199				Q9BU35_HUMAN			YES	LONP2,missense_variant,p.Arg218Gln,ENST00000565867,;SIAH1,synonymous_variant,p.=,ENST00000380006,;SIAH1,synonymous_variant,p.=,ENST00000356721,NM_001006610.1;SIAH1,synonymous_variant,p.=,ENST00000394725,NM_003031.3;LONP2,downstream_gene_variant,,ENST00000285737,NM_031490.2;SIAH1,downstream_gene_variant,,ENST00000563745,;LONP2,non_coding_transcript_exon_variant,,ENST00000564259,;SIAH1,downstream_gene_variant,,ENST00000573005,;SIAH1,upstream_gene_variant,,ENST00000565620,;SIAH1,synonymous_variant,p.=,ENST00000568007,;LONP2,non_coding_transcript_exon_variant,,ENST00000566719,;LONP2,intron_variant,,ENST00000565185,;							MODIFIER	-/2559		LONP2_HUMAN			Transcript			common_variant	ENSP00000285737	0.000198	CCDS10734.1			1	
SEMA4G	0	LGGM	GRCh37	10	102743488	102743488	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	4	4	.	.	ENST00000210633.3:c.2132G>T	p.Arg711Leu	p.R711L	ENST00000210633		711	cGa/cTa	0	1		UPI0000044D3A	0	NA	ENST00000370250		ENSG00000095539	10735		8	0.345		HGNC	p.R706L		SEMA4G		SNV							ENST00000521006	protein_coding	getma.org/?cm=var&var=hg19,10,102743488,G,T&fts=all		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF17,Low_complexity_(Seg):seg		R/L		T	neutral	2490/3596		getma.org/?cm=msa&ty=f&p=SEM4G_HUMAN&rb=670&re=836&var=R706L	tolerated(0.17)	E5RGX4_HUMAN,E5RFG2_HUMAN				SEMA4G,missense_variant,p.Arg711Leu,ENST00000210633,;SEMA4G,missense_variant,p.Arg706Leu,ENST00000370250,NM_017893.3;SEMA4G,missense_variant,p.Arg6Leu,ENST00000476171,;SEMA4G,intron_variant,,ENST00000517724,NM_001203244.1;MRPL43,intron_variant,,ENST00000318325,NM_176792.2;MRPL43,intron_variant,,ENST00000342071,NM_176794.1;MRPL43,intron_variant,,ENST00000370242,;MRPL43,intron_variant,,ENST00000523148,;MRPL43,intron_variant,,ENST00000370241,;MRPL43,intron_variant,,ENST00000299179,NM_176793.1;MRPL43,intron_variant,,ENST00000448244,;C10orf2,upstream_gene_variant,,ENST00000370228,NM_001163812.1,NM_001163814.1;C10orf2,upstream_gene_variant,,ENST00000311916,NM_021830.4,NM_001163813.1;SEMA4G,downstream_gene_variant,,ENST00000519649,;MRPL43,downstream_gene_variant,,ENST00000318364,NM_032112.2;MRPL43,downstream_gene_variant,,ENST00000477279,;MRPL43,downstream_gene_variant,,ENST00000370236,;MRPL43,downstream_gene_variant,,ENST00000370234,;RP11-108L7.4,intron_variant,,ENST00000447344,;MRPL43,intron_variant,,ENST00000476012,;C10orf2,upstream_gene_variant,,ENST00000473656,;MRPL43,downstream_gene_variant,,ENST00000493646,;C10orf2,upstream_gene_variant,,ENST00000476766,;SEMA4G,downstream_gene_variant,,ENST00000519756,;SEMA4G,upstream_gene_variant,,ENST00000484128,;C10orf2,upstream_gene_variant,,ENST00000459764,;SEMA4G,missense_variant,p.Arg706Leu,ENST00000521006,;MRPL43,downstream_gene_variant,,ENST00000487059,;SEMA4G,downstream_gene_variant,,ENST00000518948,;							MODERATE	2117/2517	R706L	SEM4G_HUMAN			Transcript		benign(0.027)	.	ENSP00000359270					1	
ACD	0	LGGM	GRCh37	16	67693637	67693637	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	32	4	.	.	ENST00000393919.4:c.562G>T	p.Gly188Trp	p.G188W	ENST00000393919		188	Ggg/Tgg	0	1	1	UPI0000246BB2	0	getma.org/pdb.php?prot=ACD_HUMAN&from=92&to=280&var=G188W	ENST00000393919		ENSG00000102977	25070		36	0.55		HGNC	p.G185W		ACD		SNV			1				ENST00000219251	protein_coding	getma.org/?cm=var&var=hg19,16,67693637,C,A&fts=all		Pfam_domain:PF10341,hmmpanther:PTHR14487:SF2,hmmpanther:PTHR14487		G/W		A	neutral	827/1974		getma.org/?cm=msa&ty=f&p=ACD_HUMAN&rb=92&re=280&var=G188W	deleterious(0.01)				YES	ACD,missense_variant,p.Gly185Trp,ENST00000219251,NM_001082487.1,NM_022914.2,NM_001082486.1;ACD,missense_variant,p.Gly188Trp,ENST00000393919,;ACD,missense_variant,p.Gly106Trp,ENST00000602320,;ACD,missense_variant,p.Gly46Trp,ENST00000602850,;RLTPR,downstream_gene_variant,,ENST00000334583,NM_001013838.1;RLTPR,downstream_gene_variant,,ENST00000545661,;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.1;ENKD1,downstream_gene_variant,,ENST00000602644,;PARD6A,upstream_gene_variant,,ENST00000458121,NM_001037281.1,NM_016948.2;PARD6A,upstream_gene_variant,,ENST00000219255,;PARD6A,upstream_gene_variant,,ENST00000602551,;ACD,upstream_gene_variant,,ENST00000602382,;ENKD1,downstream_gene_variant,,ENST00000602409,;ACD,non_coding_transcript_exon_variant,,ENST00000602622,;ACD,non_coding_transcript_exon_variant,,ENST00000602860,;ACD,non_coding_transcript_exon_variant,,ENST00000602519,;ACD,non_coding_transcript_exon_variant,,ENST00000602945,;ACD,non_coding_transcript_exon_variant,,ENST00000602780,;ACD,non_coding_transcript_exon_variant,,ENST00000602821,;ACD,non_coding_transcript_exon_variant,,ENST00000602423,;PARD6A,upstream_gene_variant,,ENST00000602727,;ENKD1,downstream_gene_variant,,ENST00000602942,;RLTPR,downstream_gene_variant,,ENST00000602368,;ENKD1,downstream_gene_variant,,ENST00000602415,;ACD,upstream_gene_variant,,ENST00000602656,;RLTPR,downstream_gene_variant,,ENST00000602705,;ENKD1,downstream_gene_variant,,ENST00000602642,;							MODERATE	562/1635	G188W	ACD_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000377496		CCDS42181.1			1	
D2HGDH	0	LGGM	GRCh37	2	242690692	242690692	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	25	4	.	.	ENST00000321264.4:c.1029A>G	p.Ser343=	p.S343=	ENST00000321264	NM_152783.3	343	tcA/tcG	0	1	1	UPI0000456F51	0		ENST00000321264		ENSG00000180902	28358		29			HGNC	p.S44S		D2HGDH		SNV			1				ENST00000454048	protein_coding			Pfam_domain:PF02913,hmmpanther:PTHR11748,hmmpanther:PTHR11748:SF35,Superfamily_domains:SSF55103		S		G		1238/2617				B5MCV2_HUMAN,B3KP72_HUMAN			YES	D2HGDH,synonymous_variant,p.=,ENST00000321264,NM_152783.3;D2HGDH,synonymous_variant,p.=,ENST00000403782,NM_001287249.1;D2HGDH,synonymous_variant,p.=,ENST00000432449,;D2HGDH,synonymous_variant,p.=,ENST00000454048,;D2HGDH,downstream_gene_variant,,ENST00000537090,;D2HGDH,downstream_gene_variant,,ENST00000342518,;D2HGDH,upstream_gene_variant,,ENST00000445308,;D2HGDH,downstream_gene_variant,,ENST00000417686,;D2HGDH,downstream_gene_variant,,ENST00000437164,;AC114730.7,downstream_gene_variant,,ENST00000417267,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000496252,;D2HGDH,intron_variant,,ENST00000486953,;D2HGDH,intron_variant,,ENST00000467427,;D2HGDH,3_prime_UTR_variant,,ENST00000436747,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000473126,;D2HGDH,non_coding_transcript_exon_variant,,ENST00000470343,;D2HGDH,intron_variant,,ENST00000400769,;D2HGDH,upstream_gene_variant,,ENST00000468064,;							LOW	1029/1566		D2HDH_HUMAN			Transcript			.	ENSP00000315351		CCDS33426.1			1	
P2RX6	0	LGGM	GRCh37	22	21377000	21377000	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	11	4	.	.	ENST00000413302.2:c.423C>T	p.Asp141=	p.D141=	ENST00000413302		141	gaC/gaT	0	1	1	UPI000013C698	0		ENST00000413302		ENSG00000099957	8538		15			HGNC	p.D115D	rs376910566	P2RX6		SNV	T:0.0002			0.000144			ENST00000401443	protein_coding			hmmpanther:PTHR10125:SF21,hmmpanther:PTHR10125,Gene3D:3h9vA02,TIGRFAM_domain:TIGR00863,Pfam_domain:PF00864		D	T:0	T		571/3687	7.33E-05						YES	P2RX6,synonymous_variant,p.=,ENST00000413302,;P2RX6,synonymous_variant,p.=,ENST00000336296,NM_005446.3;P2RX6,synonymous_variant,p.=,ENST00000443995,;P2RX6,synonymous_variant,p.=,ENST00000401443,NM_001159554.1;P2RX6,intron_variant,,ENST00000402329,;P2RX6,downstream_gene_variant,,ENST00000591411,;P2RX6,3_prime_UTR_variant,,ENST00000432930,;P2RX6,intron_variant,,ENST00000442475,;P2RX6,intron_variant,,ENST00000422210,;P2RX6,intron_variant,,ENST00000452228,;P2RX6,downstream_gene_variant,,ENST00000469722,;P2RX6,upstream_gene_variant,,ENST00000487342,;							LOW	423/1326		P2RX6_HUMAN			Transcript			.	ENSP00000416193	3.30E-05	CCDS13788.2			1	
SLC2A10	0	LGGM	GRCh37	20	45353852	45353852	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	10	4	.	.	ENST00000359271.2:c.177C>G	p.Leu59=	p.L59=	ENST00000359271	NM_030777.3	59	ctC/ctG	0	1	1	UPI000012BC8D	0		ENST00000359271		ENSG00000197496	13444		14			HGNC	p.L59L		SLC2A10		SNV			1				ENST00000359271	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF00083,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF93,Low_complexity_(Seg):seg,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		L		G		427/4368				Q8TDC7_HUMAN			YES	SLC2A10,synonymous_variant,p.=,ENST00000359271,NM_030777.3;							LOW	177/1626		GTR10_HUMAN			Transcript			.	ENSP00000352216		CCDS13402.1			1	
DOT1L	0	LGGM	GRCh37	19	2217044	2217044	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	16	5	.	.	ENST00000398665.3:c.2499G>A	p.Leu833=	p.L833=	ENST00000398665	NM_032482.2	833	ctG/ctA	0	1	1	UPI000002A839	0		ENST00000398665		ENSG00000104885	24948		21			HGNC	p.L833L		DOT1L		SNV							ENST00000398665	protein_coding			PIRSF_domain:PIRSF037123,hmmpanther:PTHR21451,hmmpanther:PTHR21451:SF0		L		A		2535/7436							YES	DOT1L,synonymous_variant,p.=,ENST00000398665,NM_032482.2;DOT1L,downstream_gene_variant,,ENST00000586024,;AC004490.1,upstream_gene_variant,,ENST00000585593,;DOT1L,downstream_gene_variant,,ENST00000608122,;DOT1L,downstream_gene_variant,,ENST00000591498,;DOT1L,non_coding_transcript_exon_variant,,ENST00000482433,;DOT1L,downstream_gene_variant,,ENST00000472540,;							LOW	2499/4614		DOT1L_HUMAN			Transcript			.	ENSP00000381657		CCDS42460.1			1	
CHPF	0	LGGM	GRCh37	2	220404336	220404336	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	37	5	.	.	ENST00000243776.6:c.2097G>C	p.Glu699Asp	p.E699D	ENST00000243776	NM_024536.5	699	gaG/gaC	0	1	1	UPI00001AE6D6	0	NA	ENST00000243776		ENSG00000123989	24291		42	0.475		HGNC	p.E699D		CHPF		SNV							ENST00000243776	protein_coding	getma.org/?cm=var&var=hg19,2,220404336,C,G&fts=all		Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF12,Low_complexity_(Seg):seg		E/D		G	neutral	2346/3013		getma.org/?cm=msa&ty=f&p=CHSS2_HUMAN&rb=262&re=762&var=E699D	tolerated(0.37)				YES	CHPF,missense_variant,p.Glu699Asp,ENST00000243776,NM_024536.5;CHPF,missense_variant,p.Glu537Asp,ENST00000535926,NM_001195731.1;ASIC4,downstream_gene_variant,,ENST00000358078,;ASIC4,downstream_gene_variant,,ENST00000347842,NM_182847.2;TMEM198,upstream_gene_variant,,ENST00000344458,;TMEM198,upstream_gene_variant,,ENST00000373883,NM_001005209.1;CHPF,downstream_gene_variant,,ENST00000373891,;TMEM198,upstream_gene_variant,,ENST00000421791,;TMEM198,upstream_gene_variant,,ENST00000451952,;ASIC4,downstream_gene_variant,,ENST00000474489,;							MODERATE	2097/2328	E699D	CHSS2_HUMAN			Transcript		benign(0.062)	.	ENSP00000243776		CCDS2443.1			1	
RPL22L1	0	LGGM	GRCh37	3	170584272	170584272	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	19	5	.	.	ENST00000295830.8:c.266A>G	p.Asn89Ser	p.N89S	ENST00000295830	NM_001099645.1	89	aAt/aGt	0	1	1	UPI000020A7AA	0	getma.org/pdb.php?prot=RL22L_HUMAN&from=8&to=120&var=N89S	ENST00000295830		ENSG00000163584	27610		24	1.765		HGNC	p.N88S	rs763649319	RPL22L1		SNV							ENST00000463836	protein_coding	getma.org/?cm=var&var=hg19,3,170584272,T,C&fts=all		Low_complexity_(Seg):seg,Pfam_domain:PF01776,hmmpanther:PTHR10064,hmmpanther:PTHR10064:SF1		N/S		C	low	582/2190	0.000109	getma.org/?cm=msa&ty=f&p=RL22L_HUMAN&rb=8&re=120&var=N89S	tolerated(0.29)				YES	RPL22L1,missense_variant,p.Asn89Ser,ENST00000295830,NM_001099645.1;RPL22L1,missense_variant,p.Asn109Ser,ENST00000466674,;RPL22L1,missense_variant,p.Asn88Ser,ENST00000463836,;RPL22L1,3_prime_UTR_variant,,ENST00000494771,;RPL22L1,3_prime_UTR_variant,,ENST00000475836,;RPL22L1,non_coding_transcript_exon_variant,,ENST00000478578,;							MODERATE	266/369	N89S	RL22L_HUMAN			Transcript		benign(0.047)	.	ENSP00000346080	1.68E-05	CCDS46955.1			1	
RUVBL2	0	LGGM	GRCh37	19	49502631	49502631	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	47	6	.	.	ENST00000595090.1:c.67+1G>A		p.X23_splice	ENST00000595090	NM_006666.1			0	1	1	UPI0000044738	0		ENST00000595090		ENSG00000183207	10475		53			HGNC	-		RUVBL2		SNV							ENST00000595090	protein_coding							A		-/2009				M0QXI6_HUMAN,B3KQ59_HUMAN			YES	RUVBL2,splice_donor_variant,,ENST00000413176,;RUVBL2,splice_donor_variant,,ENST00000595090,NM_006666.1;RUVBL2,splice_donor_variant,,ENST00000601968,;RUVBL2,intron_variant,,ENST00000596837,;RUVBL2,downstream_gene_variant,,ENST00000598768,;RUVBL2,splice_donor_variant,,ENST00000594338,;RUVBL2,splice_donor_variant,,ENST00000596247,;RUVBL2,splice_donor_variant,,ENST00000221413,;RUVBL2,splice_donor_variant,,ENST00000594017,;RUVBL2,splice_donor_variant,,ENST00000593570,;RUVBL2,splice_donor_variant,,ENST00000595811,;							HIGH	67/1392		RUVB2_HUMAN			Transcript			.	ENSP00000473172		CCDS42588.1			1	
DDR2	0	LGGM	GRCh37	1	162745616	162745616	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	70	6	.	.	ENST00000367921.3:c.2031C>T	p.Ser677=	p.S677=	ENST00000367921	NM_006182.2	677	agC/agT	0	1		UPI000013E1B4	0		ENST00000367921		ENSG00000162733	2731	0.000259	76			HGNC	p.S677S	rs773962213,COSM2088233,COSM2088232	DDR2		SNV			1			0,1,1	ENST00000367921	protein_coding			Gene3D:1.10.510.10,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF297,SMART_domains:SM00219,Superfamily_domains:SSF56112		S		T		2384/3096	1.50E-05			Q5T245_HUMAN,Q5T244_HUMAN				DDR2,synonymous_variant,p.=,ENST00000367922,NM_001014796.1;DDR2,synonymous_variant,p.=,ENST00000367921,NM_006182.2;DDR2,downstream_gene_variant,,ENST00000433757,;RN7SL861P,upstream_gene_variant,,ENST00000473793,;					0,1,1		LOW	2031/2568		DDR2_HUMAN			Transcript			.	ENSP00000356898	3.29E-05	CCDS1241.1			1	
MN1	0	LGGM	GRCh37	22	28192854	28192854	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	19	6	.	.	ENST00000302326.4:c.3678C>T	p.Ala1226=	p.A1226=	ENST00000302326	NM_002430.2	1226	gcC/gcT	0	1	1	UPI0000207445	0		ENST00000302326		ENSG00000169184	7180		25			HGNC	p.A1226A		MN1		SNV			1				ENST00000302326	protein_coding			hmmpanther:PTHR15821		A		A		4633/7556				A5HML1_HUMAN			YES	MN1,synonymous_variant,p.=,ENST00000302326,NM_002430.2;MN1,upstream_gene_variant,,ENST00000497225,;MN1,synonymous_variant,p.=,ENST00000424656,;							LOW	3678/3963		MN1_HUMAN			Transcript			.	ENSP00000304956		CCDS42998.1			1	
GCKR	0	LGGM	GRCh37	2	27746301	27746301	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	23	6	.	.	ENST00000264717.2:c.1873C>T	p.Gln625Ter	p.Q625*	ENST00000264717	NM_001486.3	625	Cag/Tag	0	1	1	UPI000013D55B	0	NA	ENST00000264717		ENSG00000084734	4196		29	0		HGNC	p.Q435X		GCKR		SNV			1				ENST00000424318	protein_coding	getma.org/?cm=var&var=hg19,2,27746301,C,T&fts=all				Q/*		T	NA	1936/2186		NA		F5H1P6_HUMAN			YES	GCKR,stop_gained,p.Gln625Ter,ENST00000264717,NM_001486.3;GCKR,stop_gained,p.Gln435Ter,ENST00000424318,;							HIGH	1873/1878	Q625*	GCKR_HUMAN			Transcript			.	ENSP00000264717		CCDS1757.1			1	
ADCY10	0	LGGM	GRCh37	1	167803271	167803271	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	32	6	.	.	ENST00000367851.4:c.3354C>A	p.Leu1118=	p.L1118=	ENST00000367851	NM_018417.4	1118	ctC/ctA	0	1	1	UPI0000204D00	0		ENST00000367851		ENSG00000143199	21285		38			HGNC	p.L965L		ADCY10		SNV			1				ENST00000545172	protein_coding			PIRSF_domain:PIRSF011131,hmmpanther:PTHR16305,hmmpanther:PTHR16305:SF23		L		T		3539/5051							YES	ADCY10,synonymous_variant,p.=,ENST00000367848,;ADCY10,synonymous_variant,p.=,ENST00000367851,NM_018417.4;ADCY10,synonymous_variant,p.=,ENST00000545172,NM_001167749.1;ADCY10,3_prime_UTR_variant,,ENST00000485964,;							LOW	3354/4833		ADCYA_HUMAN			Transcript			.	ENSP00000356825		CCDS1265.1			1	
PCDHA12	0	LGGM	GRCh37	5	140256592	140256592	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	27	6	.	.	ENST00000398631.2:c.1535C>T	p.Ala512Val	p.A512V	ENST00000398631	NM_018903.2	512	gCg/gTg	0	1	1	UPI00001273D5	0	getma.org/pdb.php?prot=PCDAC_HUMAN&from=460&to=556&var=A512V	ENST00000398631		ENSG00000251664	8666		33	1.58		HGNC	p.A512V	COSM590008	PCDHA12		SNV						1	ENST00000398631	protein_coding	getma.org/?cm=var&var=hg19,5,140256592,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF76,SMART_domains:SM00112,Superfamily_domains:SSF49313		A/V		T	low	1535/5233		getma.org/?cm=msa&ty=f&p=PCDAC_HUMAN&rb=460&re=556&var=A512V	deleterious_low_confidence(0)				YES	PCDHA12,missense_variant,p.Ala512Val,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,;					1		MODERATE	1535/2826	A512V	PCDAC_HUMAN			Transcript		possibly_damaging(0.691)	.	ENSP00000381628		CCDS47285.1			1	
PHAX	0	LGGM	GRCh37	5	125960408	125960408	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	43	6	.	.	ENST00000297540.4:c.1057A>C	p.Thr353Pro	p.T353P	ENST00000297540	NM_032177.3	353	Act/Cct	0	1	1	UPI000006DD37	0	NA	ENST00000297540		ENSG00000164902	10241		49	0.975		HGNC	p.T353P		PHAX		SNV							ENST00000297540	protein_coding	getma.org/?cm=var&var=hg19,5,125960408,A,C&fts=all		hmmpanther:PTHR13135		T/P		C	low	1752/4288		getma.org/?cm=msa&ty=f&p=PHAX_HUMAN&rb=316&re=394&var=T353P	deleterious(0)				YES	PHAX,missense_variant,p.Thr353Pro,ENST00000297540,NM_032177.3;PHAX,non_coding_transcript_exon_variant,,ENST00000513813,;PHAX,non_coding_transcript_exon_variant,,ENST00000511371,;RP11-395C3.1,downstream_gene_variant,,ENST00000593565,;RP11-395C3.1,downstream_gene_variant,,ENST00000490423,;							MODERATE	1057/1185	T353P	PHAX_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000297540		CCDS4138.1			1	
PER3	0	LGGM	GRCh37	1	7889973	7890026	+	inframe_deletion	In_Frame_Del	DEL	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	-	novel	by Submitter	H111728	H111728N.bam	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	AGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	36	11	.	.	ENST00000361923.2:c.3019_3072del	p.Ala1007_Ser1024del	p.A1007_S1024del	ENST00000361923	NM_016831.1	980	gAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAag/gag	0	1	1	UPI0000167B1D	0		ENST00000361923		ENSG00000049246	8847		47			HGNC	p.980_998del	TMP_ESP_1_7889973_7890026	PER3		deletion	-:0.1317						ENST00000361923	protein_coding			Pfam_domain:PF12114,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF13		ENPSHPTASALSTGSPPMK/E	-:0.1768	-		3114-3167/6203				Q8TAR6_HUMAN,B4DR65_HUMAN,A2I2N5_HUMAN			YES	PER3,inframe_deletion,p.Ala1016_Ser1033del,ENST00000377532,;PER3,inframe_deletion,p.Ala1007_Ser1024del,ENST00000361923,NM_016831.1;RP3-467L1.4,upstream_gene_variant,,ENST00000451646,;							MODERATE	2939-2992/3606		PER3_HUMAN			Transcript	80		.	ENSP00000355031		CCDS89.1			1	
DGCR6	0	LGGM	GRCh37	22	18899113	18899113	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	13	7	.	.	ENST00000331444.6:c.574T>G	p.Trp192Gly	p.W192G	ENST00000331444	NM_005675.4	192	Tgg/Ggg	0	1	1	UPI000000DBA4	0	NA	ENST00000331444		ENSG00000183628	2846		20	-0.69		HGNC	p.W192G		DGCR6		SNV							ENST00000331444	protein_coding	getma.org/?cm=var&var=hg19,22,18899113,T,G&fts=all		hmmpanther:PTHR13054:SF5,hmmpanther:PTHR13054,Pfam_domain:PF07324		W/G		G	neutral	726/1214		getma.org/?cm=msa&ty=f&p=DGCR6_HUMAN&rb=1&re=195&var=W192G	tolerated(0.14)	Q6FGH4_HUMAN			YES	DGCR6,missense_variant,p.Trp192Gly,ENST00000331444,NM_005675.4;DGCR6,missense_variant,p.Trp56Gly,ENST00000413981,;PRODH,downstream_gene_variant,,ENST00000357068,NM_016335.4;PRODH,downstream_gene_variant,,ENST00000420436,;PRODH,downstream_gene_variant,,ENST00000334029,NM_001195226.1;DGCR6,downstream_gene_variant,,ENST00000608842,;DGCR6,non_coding_transcript_exon_variant,,ENST00000436645,;DGCR6,3_prime_UTR_variant,,ENST00000483718,;DGCR6,3_prime_UTR_variant,,ENST00000480608,;DGCR6,3_prime_UTR_variant,,ENST00000427407,;PRODH,downstream_gene_variant,,ENST00000609229,;PRODH,downstream_gene_variant,,ENST00000482858,;PRODH,downstream_gene_variant,,ENST00000491604,;PRODH,downstream_gene_variant,,ENST00000313755,;PRODH,downstream_gene_variant,,ENST00000429300,;DGCR6,downstream_gene_variant,,ENST00000477156,;							MODERATE	574/663	W192G	DGCR6_HUMAN			Transcript		benign(0)	.	ENSP00000331681		CCDS13753.1			1	
UNC13C	0	LGGM	GRCh37	15	54307623	54307623	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	20	7	.	.	ENST00000260323.11:c.2523A>T	p.Ala841=	p.A841=	ENST00000260323	NM_001080534.1	841	gcA/gcT	0	1	1	UPI0000DD82AB	0		ENST00000260323		ENSG00000137766	23149		27			HGNC	p.A841A		UNC13C		SNV							ENST00000537900	protein_coding			hmmpanther:PTHR10480,hmmpanther:PTHR10480:SF2		A		T		2523/8131				H3BRP8_HUMAN			YES	UNC13C,synonymous_variant,p.=,ENST00000545554,;UNC13C,synonymous_variant,p.=,ENST00000537900,;UNC13C,synonymous_variant,p.=,ENST00000260323,NM_001080534.1;							LOW	2523/6645		UN13C_HUMAN			Transcript			.	ENSP00000260323		CCDS45264.1			1	
PCDHB13	0	LGGM	GRCh37	5	140595428	140595428	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	24	7	.	.	ENST00000341948.4:c.1733G>A	p.Arg578Gln	p.R578Q	ENST00000341948	NM_018933.2	578	cGg/cAg	0	1	1	UPI0000047816	0	getma.org/pdb.php?prot=PCDBD_HUMAN&from=575&to=663&var=R578Q	ENST00000341948		ENSG00000187372	8684		31	1.825		HGNC	p.R578Q		PCDHB13		SNV							ENST00000341948	protein_coding	getma.org/?cm=var&var=hg19,5,140595428,G,A&fts=all		Gene3D:2.60.40.60,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,Superfamily_domains:SSF49313		R/Q		A	low	1920/3485		getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=575&re=663&var=R578Q	deleterious_low_confidence(0)				YES	PCDHB13,missense_variant,p.Arg578Gln,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;							MODERATE	1733/2397	R578Q	PCDBD_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000345491		CCDS4255.1			1	
MYLK	0	LGGM	GRCh37	3	123366151	123366151	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	28	7	.	.	ENST00000360304.3:c.4539G>T	p.Met1513Ile	p.M1513I	ENST00000360304	NM_053025.3	1513	atG/atT	0	1	1	UPI000020A0AE	0	getma.org/pdb.php?prot=MYLK_HUMAN&from=1464&to=1719&var=M1513I	ENST00000360304		ENSG00000065534	7590		35	1.56		HGNC	p.M1513I		MYLK		SNV			1				ENST00000360304	protein_coding	getma.org/?cm=var&var=hg19,3,123366151,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44,Pfam_domain:PF00069,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/I		A	low	4821/7834		getma.org/?cm=msa&ty=f&p=MYLK_HUMAN&rb=1464&re=1719&var=M1513I	deleterious(0)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN			YES	MYLK,missense_variant,p.Met1513Ile,ENST00000360772,;MYLK,missense_variant,p.Met1513Ile,ENST00000360304,NM_053025.3;MYLK,missense_variant,p.Met1513Ile,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,missense_variant,p.Met1444Ile,ENST00000346322,NM_053026.3;MYLK,missense_variant,p.Met1513Ile,ENST00000475616,;MYLK,missense_variant,p.Met313Ile,ENST00000354792,;MYLK-AS1,downstream_gene_variant,,ENST00000485162,;MYLK,intron_variant,,ENST00000514895,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000513111,;							MODERATE	4539/5745	M1513I	MYLK_HUMAN			Transcript		benign(0.131)	.	ENSP00000353452		CCDS46896.1			1	
TAF7L	0	LGGM	GRCh37	X	100531458	100531458	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	34	7	.	.	ENST00000372907.3:c.1008G>A	p.Glu336=	p.E336=	ENST00000372907	NM_024885.3	336	gaG/gaA	0	1	1	UPI0000212176	0		ENST00000372907		ENSG00000102387	11548		41			HGNC	p.E250E		TAF7L		SNV							ENST00000356784	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12228,hmmpanther:PTHR12228:SF1		E		T		1020/2341							YES	TAF7L,synonymous_variant,p.=,ENST00000372907,NM_024885.3;TAF7L,synonymous_variant,p.=,ENST00000356784,NM_001168474.1;TAF7L,intron_variant,,ENST00000372905,;TAF7L,intron_variant,,ENST00000324762,;							LOW	1008/1389		TAF7L_HUMAN			Transcript			.	ENSP00000361998		CCDS35347.1			1	
SCN11A	0	LGGM	GRCh37	3	38888607	38888607	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	67	8	.	.	ENST00000302328.3:c.4954G>A	p.Ala1652Thr	p.A1652T	ENST00000302328	NM_014139.2	1652	Gcc/Acc	0	1	1	UPI000006CCD7	0	getma.org/pdb.php?prot=SCNBA_HUMAN&from=1604&to=1791&var=A1652T	ENST00000302328		ENSG00000168356	10583		75	1.18		HGNC	p.A1652T	COSM730937	SCN11A		SNV			1			1	ENST00000450244	protein_coding	getma.org/?cm=var&var=hg19,3,38888607,C,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF22		A/T		T	low	5153/6500		getma.org/?cm=msa&ty=f&p=SCNBA_HUMAN&rb=1604&re=1791&var=A1652T	tolerated(0.5)				YES	SCN11A,missense_variant,p.Ala1652Thr,ENST00000302328,NM_014139.2,NM_001287223.1;SCN11A,missense_variant,p.Ala1652Thr,ENST00000450244,NM_001287223.1;SCN11A,missense_variant,p.Ala1614Thr,ENST00000456224,;SCN11A,downstream_gene_variant,,ENST00000444237,;					1		MODERATE	4954/5376	A1652T	SCNBA_HUMAN			Transcript		benign(0.032)	.	ENSP00000307599		CCDS33737.1			1	
VCAN	0	LGGM	GRCh37	5	82843843	82843843	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	17	8	.	.	ENST00000265077.3:c.9433G>T	p.Gly3145Cys	p.G3145C	ENST00000265077	NM_004385.4	3145	Ggt/Tgt	0	1	1	UPI000013178B	0	getma.org/pdb.php?prot=CSPG2_HUMAN&from=3131&to=3161&var=G3145C	ENST00000265077		ENSG00000038427	2464		25	2.865		HGNC	p.G404C		VCAN		SNV			1				ENST00000502527	protein_coding	getma.org/?cm=var&var=hg19,5,82843843,G,T&fts=all		Superfamily_domains:SSF56436,SMART_domains:SM00179,SMART_domains:SM00181,Pfam_domain:PF00008,Gene3D:2.10.25.10,PROSITE_patterns:PS01187,PROSITE_patterns:PS00010,hmmpanther:PTHR22804:SF6,hmmpanther:PTHR22804,PROSITE_profiles:PS50026		G/C		T	medium	9998/12625		getma.org/?cm=msa&ty=f&p=CSPG2_HUMAN&rb=3131&re=3161&var=G3145C	deleterious(0)				YES	VCAN,missense_variant,p.Gly3145Cys,ENST00000265077,NM_004385.4;VCAN,missense_variant,p.Gly2158Cys,ENST00000343200,NM_001126336.2,NM_001164097.1;VCAN,missense_variant,p.Gly1391Cys,ENST00000342785,NM_001164098.1;VCAN,missense_variant,p.Gly1343Cys,ENST00000512590,;VCAN,missense_variant,p.Gly404Cys,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,;							MODERATE	9433/10191	G3145C	CSPG2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000265077		CCDS4060.1			1	
OR52D1	0	LGGM	GRCh37	11	5510296	5510296	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	37	8	.	.	ENST00000322641.5:c.360C>G	p.Ala120=	p.A120=	ENST00000322641	NM_001005163.2	120	gcC/gcG	0	1	1	UPI0000041DD3	0		ENST00000322641		ENSG00000181609	15212		45			HGNC	p.A120A		OR52D1		SNV							ENST00000322641	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A		G		382/1065							YES	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,;							LOW	360/957		O52D1_HUMAN			Transcript			.	ENSP00000326232		CCDS31384.1			1	
AP2A2	0	LGGM	GRCh37	11	992563	992563	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	12	8	.	.	ENST00000448903.2:c.1330A>G	p.Thr444Ala	p.T444A	ENST00000448903	NM_012305.3	444	Acc/Gcc	0	1	1	UPI0000124FF5	0	getma.org/pdb.php?prot=AP2A2_HUMAN&from=29&to=590&var=T444A	ENST00000448903		ENSG00000183020	562		20	2.665		HGNC	p.T445A		AP2A2		SNV							ENST00000332231	protein_coding	getma.org/?cm=var&var=hg19,11,992563,A,G&fts=all		hmmpanther:PTHR22780:SF24,hmmpanther:PTHR22780,Pfam_domain:PF01602,Gene3D:1.25.10.10,PIRSF_domain:PIRSF037091,Superfamily_domains:SSF48371		T/A		G	medium	1471/4575		getma.org/?cm=msa&ty=f&p=AP2A2_HUMAN&rb=29&re=590&var=T444A	tolerated(0.06)	Q9UFK5_HUMAN,E9PS94_HUMAN,E9PQP4_HUMAN,E9PPZ3_HUMAN,E9PNC4_HUMAN			YES	AP2A2,missense_variant,p.Thr444Ala,ENST00000448903,NM_012305.3,NM_001242837.1;AP2A2,missense_variant,p.Thr445Ala,ENST00000332231,;AP2A2,intron_variant,,ENST00000534328,;AP2A2,intron_variant,,ENST00000528195,;AP2A2,upstream_gene_variant,,ENST00000525891,;AP2A2,missense_variant,p.Thr445Ala,ENST00000528815,;AP2A2,downstream_gene_variant,,ENST00000524952,;							MODERATE	1330/2820	T444A	AP2A2_HUMAN			Transcript		possibly_damaging(0.577)	.	ENSP00000413234		CCDS44512.1			1	
LARGE	0	LGGM	GRCh37	22	33960890	33960890	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	51	8	.	.	ENST00000354992.2:c.731A>T	p.Asp244Val	p.D244V	ENST00000354992	NM_004737.4	244	gAt/gTt	0	1	1	UPI000012E200	0	NA	ENST00000354992		ENSG00000133424	6511		59	3.595		HGNC	p.D244V		LARGE		SNV			1				ENST00000397394	protein_coding	getma.org/?cm=var&var=hg19,22,33960890,T,A&fts=all		hmmpanther:PTHR12270,hmmpanther:PTHR12270:SF18,Pfam_domain:PF01501,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		D/V		A	high	1303/4409		getma.org/?cm=msa&ty=f&p=LARGE_HUMAN&rb=142&re=386&var=D244V	deleterious(0)	B0QZ02_HUMAN,B0QZ01_HUMAN,B0QZ00_HUMAN,B0QYZ9_HUMAN,B0QYZ8_HUMAN			YES	LARGE,missense_variant,p.Asp244Val,ENST00000354992,NM_004737.4;LARGE,missense_variant,p.Asp244Val,ENST00000337431,;LARGE,missense_variant,p.Asp244Val,ENST00000397394,NM_133642.3;LARGE,missense_variant,p.Asp244Val,ENST00000402320,;LARGE,missense_variant,p.Asp244Val,ENST00000437602,;LARGE,missense_variant,p.Asp43Val,ENST00000452586,;LARGE,missense_variant,p.Asp43Val,ENST00000421768,;LARGE,non_coding_transcript_exon_variant,,ENST00000476315,;							MODERATE	731/2271	D244V	LARGE_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000347088		CCDS13912.1			1	
GBA2	0	LGGM	GRCh37	9	35737886	35737886	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	23	8	.	.	ENST00000378103.3:c.2364G>T	p.Leu788=	p.L788=	ENST00000378103	NM_020944.2	788	ctG/ctT	0	1	1	UPI0000073FD5	0		ENST00000378103		ENSG00000070610	18986		31			HGNC	p.L89L		GBA2		SNV			1				ENST00000378088	protein_coding			Superfamily_domains:SSF48208,PIRSF_domain:PIRSF028944,Pfam_domain:PF04685,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654		L		A		2888/3611							YES	GBA2,synonymous_variant,p.=,ENST00000378094,;GBA2,synonymous_variant,p.=,ENST00000378103,NM_020944.2;GBA2,synonymous_variant,p.=,ENST00000545786,;GBA2,synonymous_variant,p.=,ENST00000378088,;CREB3,downstream_gene_variant,,ENST00000353704,NM_006368.4;GBA2,downstream_gene_variant,,ENST00000467252,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000486797,;GBA2,downstream_gene_variant,,ENST00000485259,;GBA2,downstream_gene_variant,,ENST00000488292,;							LOW	2364/2784		GBA2_HUMAN			Transcript			.	ENSP00000367343		CCDS6589.1			1	
DTHD1	0	LGGM	GRCh37	4	36345387	36345387	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	27	9	.	.	ENST00000456874.2:c.2287A>G	p.Lys763Glu	p.K763E	ENST00000456874	NM_001170700.2	763	Aag/Gag	0	1	1	UPI00006C079E	0	NA	ENST00000456874		ENSG00000197057	37261		36	1.935		HGNC	p.K803E		DTHD1		SNV							ENST00000507598	protein_coding	getma.org/?cm=var&var=hg19,4,36345387,A,G&fts=all		hmmpanther:PTHR24199:SF7,hmmpanther:PTHR24199,Gene3D:1.10.533.10,Superfamily_domains:SSF47986		K/E		G	medium	2345/4335		getma.org/?cm=msa&ty=f&p=DTHD1_HUMAN&rb=679&re=764&var=K763E	deleterious(0)				YES	DTHD1,missense_variant,p.Lys763Glu,ENST00000456874,NM_001170700.2;DTHD1,missense_variant,p.Lys598Glu,ENST00000357504,NM_001136536.4;DTHD1,missense_variant,p.Lys803Glu,ENST00000507598,;RP11-431M7.2,intron_variant,,ENST00000504344,;DTHD1,non_coding_transcript_exon_variant,,ENST00000503528,;							MODERATE	2287/2346	K763E	DTHD1_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000401597		CCDS54754.1			1	
TTN	0	LGGM	GRCh37	2	179669349	179669349	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	19	9	.	.	ENST00000589042.1:c.21G>A	p.Thr7=	p.T7=	ENST00000589042	NM_001267550.1	7	acG/acA	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403	8.81E-05	28			HGNC	p.T7T	rs535956871	TTN		SNV			1				ENST00000359218	protein_coding		T:0	Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,Superfamily_domains:SSF48726		T		T		246/104301	3.04E-05			C9JQJ2_HUMAN	T:0	T:0		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,synonymous_variant,p.=,ENST00000360870,NM_133379.4;TTN,synonymous_variant,p.=,ENST00000412264,;TTN,non_coding_transcript_exon_variant,,ENST00000470257,;		T:0.0002					LOW	21/103053		TITIN_HUMAN		T:0.001	Transcript			.	ENSP00000465570	2.47E-05			T:0	1	
NEDD4L	0	LGGM	GRCh37	18	55833020	55833020	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	37	9	.	.	ENST00000400345.3:c.49G>A	p.Gly17Arg	p.G17R	ENST00000400345	NM_001144967.2	17	Gga/Aga	0	1	1	UPI000058E3AE	0	getma.org/pdb.php?prot=NED4L_HUMAN&from=7&to=109&var=G17R	ENST00000400345		ENSG00000049759	7728		46	1.215		HGNC	p.G17R		NEDD4L		SNV							ENST00000400345	protein_coding	getma.org/?cm=var&var=hg19,18,55833020,G,A&fts=all		Gene3D:2.60.40.150,PIRSF_domain:PIRSF001569,PROSITE_profiles:PS50004,hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF310		G/R		A	low	332/3647		getma.org/?cm=msa&ty=f&p=NED4L_HUMAN&rb=7&re=109&var=G17R	tolerated(0.34)	K7ENS6_HUMAN,K7EN51_HUMAN			YES	NEDD4L,missense_variant,p.Gly17Arg,ENST00000382850,NM_015277.5;NEDD4L,missense_variant,p.Gly17Arg,ENST00000400345,NM_001144967.2;NEDD4L,missense_variant,p.Gly9Arg,ENST00000357895,NM_001144968.1,NM_001144965.1;NEDD4L,missense_variant,p.Gly9Arg,ENST00000586263,NM_001144969.1;NEDD4L,missense_variant,p.Gly17Arg,ENST00000356462,NM_001243960.1;NEDD4L,missense_variant,p.Gly17Arg,ENST00000256830,;NEDD4L,splice_region_variant,,ENST00000456986,NM_001144964.1;NEDD4L,splice_region_variant,,ENST00000256832,;NEDD4L,splice_region_variant,,ENST00000435432,NM_001144971.1;NEDD4L,splice_region_variant,,ENST00000592846,;NEDD4L,intron_variant,,ENST00000589054,;NEDD4L,splice_region_variant,,ENST00000588516,;NEDD4L,splice_region_variant,,ENST00000587547,;NEDD4L,splice_region_variant,,ENST00000585363,;NEDD4L,splice_region_variant,,ENST00000591989,;NEDD4L,splice_region_variant,,ENST00000585594,;NEDD4L,splice_region_variant,,ENST00000590694,;NEDD4L,splice_region_variant,,ENST00000591579,;							MODERATE	49/2928	G17R	NED4L_HUMAN			Transcript		benign(0.009)	.	ENSP00000383199		CCDS45872.1			1	
OR51S1	0	LGGM	GRCh37	11	4870304	4870304	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	30	9	.	.	ENST00000322101.2:c.135C>A	p.Leu45=	p.L45=	ENST00000322101	NM_001004758.1	45	ctC/ctA	0	1	1	UPI0000041C33	0		ENST00000322101		ENSG00000176922	15204		39			HGNC	p.L45L		OR51S1		SNV							ENST00000322101	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR26450,hmmpanther:PTHR26450:SF73,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L		T		211/1088							YES	OR51S1,synonymous_variant,p.=,ENST00000322101,NM_001004758.1;MMP26,intron_variant,,ENST00000380390,;MMP26,intron_variant,,ENST00000477339,;							LOW	135/972		O51S1_HUMAN			Transcript			.	ENSP00000322754		CCDS31362.1			1	
MAPKBP1	0	LGGM	GRCh37	15	42104775	42104775	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	44	9	.	.	ENST00000456763.2:c.560A>G	p.Glu187Gly	p.E187G	ENST00000456763	NM_001128608.1	187	gAg/gGg	0	1	1	UPI00002375CB	0	NA	ENST00000456763		ENSG00000137802	29536		53	2.39		HGNC	p.E187G		MAPKBP1		SNV							ENST00000514566	protein_coding	getma.org/?cm=var&var=hg19,15,42104775,A,G&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,Pfam_domain:PF00400,hmmpanther:PTHR22847:SF326,hmmpanther:PTHR22847,PROSITE_profiles:PS50294		E/G		G	medium	756/7158		getma.org/?cm=msa&ty=f&p=MABP1_HUMAN&rb=175&re=204&var=E187G	deleterious(0.01)	D6R9F7_HUMAN			YES	MAPKBP1,missense_variant,p.Glu187Gly,ENST00000457542,NM_014994.2;MAPKBP1,missense_variant,p.Glu187Gly,ENST00000456763,NM_001128608.1;MAPKBP1,missense_variant,p.Glu187Gly,ENST00000221214,;MAPKBP1,missense_variant,p.Glu187Gly,ENST00000514566,NM_001265611.1;MAPKBP1,missense_variant,p.Glu75Gly,ENST00000260357,;MAPKBP1,downstream_gene_variant,,ENST00000510535,;MAPKBP1,downstream_gene_variant,,ENST00000507762,;MAPKBP1,missense_variant,p.Glu187Gly,ENST00000512970,;MAPKBP1,3_prime_UTR_variant,,ENST00000505373,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000505061,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000502292,;MAPKBP1,non_coding_transcript_exon_variant,,ENST00000515164,;MAPKBP1,upstream_gene_variant,,ENST00000503526,;MAPKBP1,downstream_gene_variant,,ENST00000507147,;							MODERATE	560/4545	E187G	MABP1_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000393099		CCDS45239.1			1	
ABCG8	0	LGGM	GRCh37	2	44078761	44078761	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	24	9	.	.	ENST00000272286.2:c.361C>G	p.Arg121Gly	p.R121G	ENST00000272286	NM_022437.2	121	Cga/Gga	0	1	1	UPI000004C4CD	0	getma.org/pdb.php?prot=ABCG8_HUMAN&from=112&to=241&var=R121G	ENST00000272286		ENSG00000143921	13887		33	2.405		HGNC	p.R121G	rs375005392	ABCG8		SNV	T:0		1	0.000192			ENST00000272286	protein_coding	getma.org/?cm=var&var=hg19,2,44078761,C,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR19241,Superfamily_domains:SSF52540		R/G	T:0.0001	G	medium	451/2665		getma.org/?cm=msa&ty=f&p=ABCG8_HUMAN&rb=112&re=241&var=R121G	deleterious(0)	Q96A01_HUMAN			YES	ABCG8,missense_variant,p.Arg121Gly,ENST00000272286,NM_022437.2;							MODERATE	361/2022	R121G	ABCG8_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000272286	1.65E-05	CCDS1815.1			1	
ANKRD26	0	LGGM	GRCh37	10	27389117	27389117	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	46	9	.	.	ENST00000376087.4:c.139C>G	p.Leu47Val	p.L47V	ENST00000376087	NM_014915.2	47	Ctc/Gtc	0	1	1	UPI000006FC41	0	NA	ENST00000376087		ENSG00000107890	29186		55	2.28		HGNC	p.L47V		ANKRD26		SNV			1				ENST00000376087	protein_coding	getma.org/?cm=var&var=hg19,10,27389117,G,C&fts=all		Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24147,hmmpanther:PTHR24147:SF17,PROSITE_profiles:PS50297		L/V		C	medium	305/6591		getma.org/?cm=msa&ty=f&p=ANR26_HUMAN&rb=10&re=79&var=L47V	tolerated(0.11)				YES	ANKRD26,missense_variant,p.Leu47Val,ENST00000376087,NM_014915.2,NM_001256053.1;ANKRD26,missense_variant,p.Leu47Val,ENST00000436985,;							MODERATE	139/5133	L47V	ANR26_HUMAN			Transcript		benign(0.098)	.	ENSP00000365255		CCDS41499.1			1	
MRGPRX4	0	LGGM	GRCh37	11	18195431	18195431	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	36	10	.	.	ENST00000314254.3:c.628C>A	p.Pro210Thr	p.P210T	ENST00000314254	NM_054032.3	210	Ccg/Acg	0	1	1	UPI0000061F60	0	NA	ENST00000314254		ENSG00000179817	17617		46	2.98		HGNC	p.P210T		MRGPRX4		SNV							ENST00000314254	protein_coding	getma.org/?cm=var&var=hg19,11,18195431,C,A&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF23,hmmpanther:PTHR11334,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321		P/T		A	medium	1048/1444		getma.org/?cm=msa&ty=f&p=MRGX4_HUMAN&rb=44&re=272&var=P210T	tolerated(0.06)				YES	MRGPRX4,missense_variant,p.Pro210Thr,ENST00000314254,NM_054032.3;RP11-113D6.6,intron_variant,,ENST00000527671,;							MODERATE	628/969	P210T	MRGX4_HUMAN			Transcript		benign(0.366)	.	ENSP00000314042		CCDS7831.1			1	
ATP8B4	0	LGGM	GRCh37	15	50279668	50279668	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	39	10	.	.	ENST00000284509.6:c.668C>A	p.Ser223Tyr	p.S223Y	ENST00000284509	NM_024837.3	223	tCc/tAc	0	1	1	UPI0000055904	0	NA	ENST00000284509		ENSG00000104043	13536		49	3.605		HGNC	p.S223Y		ATP8B4		SNV							ENST00000559829	protein_coding	getma.org/?cm=var&var=hg19,15,50279668,G,T&fts=all		hmmpanther:PTHR24092:SF46,hmmpanther:PTHR24092,Pfam_domain:PF00122,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049471		S/Y		T	high	810/5677		getma.org/?cm=msa&ty=f&p=AT8B4_HUMAN&rb=83&re=354&var=S223Y	tolerated(0.1)	H0YMB5_HUMAN			YES	ATP8B4,missense_variant,p.Ser223Tyr,ENST00000284509,NM_024837.3;ATP8B4,missense_variant,p.Ser223Tyr,ENST00000559829,;RNA5SP394,downstream_gene_variant,,ENST00000364216,;ATP8B4,non_coding_transcript_exon_variant,,ENST00000558959,;ATP8B4,downstream_gene_variant,,ENST00000560437,;ATP8B4,missense_variant,p.Ser223Tyr,ENST00000557955,;ATP8B4,3_prime_UTR_variant,,ENST00000559726,;ATP8B4,3_prime_UTR_variant,,ENST00000558906,;							MODERATE	668/3579	S223Y	AT8B4_HUMAN			Transcript		possibly_damaging(0.54)	.	ENSP00000284509		CCDS32238.1			1	
UNC13A	0	LGGM	GRCh37	19	17743688	17743688	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	24	10	.	.	ENST00000519716.2:c.3331G>A	p.Ala1111Thr	p.A1111T	ENST00000519716	NM_001080421.2	1111	Gcc/Acc	0	1	1	UPI00006C19A7	0	NA	ENST00000519716		ENSG00000130477	23150		34	0.075		HGNC	p.A1111T		UNC13A		SNV			1				ENST00000552293	protein_coding	getma.org/?cm=var&var=hg19,19,17743688,C,T&fts=all		PROSITE_profiles:PS51258,hmmpanther:PTHR10480		A/T		T	neutral	3331/9838		getma.org/?cm=msa&ty=f&p=UN13A_HUMAN&rb=1093&re=1236&var=A1111T	tolerated(0.39)				YES	UNC13A,missense_variant,p.Ala1199Thr,ENST00000428389,;UNC13A,missense_variant,p.Ala1111Thr,ENST00000519716,NM_001080421.2;UNC13A,missense_variant,p.Ala1111Thr,ENST00000252773,;UNC13A,missense_variant,p.Ala1111Thr,ENST00000551649,;UNC13A,missense_variant,p.Ala1111Thr,ENST00000552293,;UNC13A,missense_variant,p.Ala1109Thr,ENST00000550896,;UNC13A,upstream_gene_variant,,ENST00000601528,;							MODERATE	3331/5112	A1111T	UN13A_HUMAN			Transcript		possibly_damaging(0.524)	.	ENSP00000429562		CCDS46013.2			1	
B3GALT5	0	LGGM	GRCh37	21	41032645	41032645	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	40	10	.	.	ENST00000380620.4:c.159G>T	p.Arg53Ser	p.R53S	ENST00000380620		53	agG/agT	0	1		UPI0000126713	0	NA	ENST00000343118		ENSG00000183778	920		50	0.805		HGNC	p.R53S		B3GALT5		SNV							ENST00000380620	protein_coding	getma.org/?cm=var&var=hg19,21,41032645,G,T&fts=all		hmmpanther:PTHR11214,hmmpanther:PTHR11214:SF18		R/S		T	low	436/2606		getma.org/?cm=msa&ty=f&p=B3GT5_HUMAN&rb=1&re=70&var=R53S	tolerated(0.37)					B3GALT5,missense_variant,p.Arg53Ser,ENST00000380620,;B3GALT5,missense_variant,p.Arg53Ser,ENST00000380618,NM_033170.2,NM_006057.2,NM_001278650.1;B3GALT5,missense_variant,p.Arg53Ser,ENST00000343118,NM_033171.2;B3GALT5,missense_variant,p.Arg53Ser,ENST00000398714,NM_033172.2;AF064860.5,intron_variant,,ENST00000416555,;							MODERATE	159/933	R53S	B3GT5_HUMAN			Transcript		benign(0.001)	.	ENSP00000343318		CCDS13667.1			1	
ZNF548	0	LGGM	GRCh37	19	57911222	57911222	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	41	10	.	.	ENST00000336128.7:c.1603A>G	p.Ile535Val	p.I535V	ENST00000336128	NM_001172773.1	535	Atc/Gtc	0	1		UPI0000202D1F	0	NA	ENST00000366197		ENSG00000188785	26561		51	0.35		HGNC	p.I535V	rs377618513	ZNF548		SNV	G:0						ENST00000336128	protein_coding	getma.org/?cm=var&var=hg19,19,57911222,A,G&fts=all		hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF189		I/V	G:0.0001	G	neutral	1817/3381	5.58E-05	getma.org/?cm=msa&ty=f&p=ZN548_HUMAN&rb=489&re=533&var=I523V	tolerated(0.5)					ZNF548,missense_variant,p.Ile523Val,ENST00000366197,NM_152909.3;ZNF548,missense_variant,p.Ile535Val,ENST00000336128,NM_001172773.1;AC003002.6,intron_variant,,ENST00000596400,;AC003002.6,intron_variant,,ENST00000596617,;AC004076.7,intron_variant,,ENST00000597410,;ZNF548,downstream_gene_variant,,ENST00000600927,;ZNF548,downstream_gene_variant,,ENST00000597400,;ZNF548,downstream_gene_variant,,ENST00000598895,;ZNF548,downstream_gene_variant,,ENST00000596282,;ZNF548,downstream_gene_variant,,ENST00000594668,;ZNF548,downstream_gene_variant,,ENST00000594693,;AC003002.4,downstream_gene_variant,,ENST00000597658,;AC003002.6,intron_variant,,ENST00000600421,;ZNF548,downstream_gene_variant,,ENST00000597047,;ZNF548,downstream_gene_variant,,ENST00000597576,;ZNF548,downstream_gene_variant,,ENST00000602086,;ZNF548,downstream_gene_variant,,ENST00000600442,;							MODERATE	1567/1602	I523V	ZN548_HUMAN			Transcript		benign(0.001)	.	ENSP00000379482	2.48E-05	CCDS46209.1			1	
IL1RL2	0	LGGM	GRCh37	2	102849512	102849512	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	39	11	.	.	ENST00000264257.2:c.1225C>T	p.Leu409=	p.L409=	ENST00000264257	NM_003854.2	409	Ctg/Ttg	0	1	1	UPI000013D4ED	0		ENST00000264257		ENSG00000115598	5999		50			HGNC	p.L409L		IL1RL2		SNV							ENST00000539491	protein_coding			Gene3D:3.40.50.10140,Pfam_domain:PF01582,Prints_domain:PR01537,PROSITE_profiles:PS50104,hmmpanther:PTHR11890,hmmpanther:PTHR11890:SF9,SMART_domains:SM00255,Superfamily_domains:SSF52200		L		T		1351/2615				C9K0I8_HUMAN			YES	IL1RL2,synonymous_variant,p.=,ENST00000264257,NM_003854.2;IL1RL2,synonymous_variant,p.=,ENST00000539491,;IL1RL2,synonymous_variant,p.=,ENST00000441515,;IL1RL2,non_coding_transcript_exon_variant,,ENST00000481806,;							LOW	1225/1728		ILRL2_HUMAN			Transcript			.	ENSP00000264257		CCDS2056.1			1	
ATM	0	LGGM	GRCh37	11	108206684	108206684	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	10	11	.	.	ENST00000278616.4:c.8264A>G	p.Tyr2755Cys	p.Y2755C	ENST00000278616	NM_000051.3	2755	tAt/tGt	0	1	1	UPI0000DBEF44	0	getma.org/pdb.php?prot=ATM_HUMAN&from=2711&to=2962&var=Y2755C	ENST00000278616		ENSG00000149311	795		21	4.27		HGNC	p.Y2755C		ATM		SNV			1				ENST00000452508	protein_coding	getma.org/?cm=var&var=hg19,11,108206684,A,G&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00146,Gene3D:3.30.1010.10,Pfam_domain:PF00454,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66,PROSITE_profiles:PS50290		Y/C		G	high	8649/13147		getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=2711&re=2962&var=Y2755C	deleterious(0)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,missense_variant,p.Tyr2755Cys,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Tyr2755Cys,ENST00000452508,;C11orf65,intron_variant,,ENST00000525729,;C11orf65,intron_variant,,ENST00000524755,;ATM,non_coding_transcript_exon_variant,,ENST00000533979,;C11orf65,downstream_gene_variant,,ENST00000526725,;ATM,non_coding_transcript_exon_variant,,ENST00000524792,;ATM,non_coding_transcript_exon_variant,,ENST00000525056,;C11orf65,intron_variant,,ENST00000527531,;ATM,downstream_gene_variant,,ENST00000533690,;							MODERATE	8264/9171	Y2755C	ATM_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000278616		CCDS31669.1			1	
HTT	0	LGGM	GRCh37	4	3133484	3133484	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	37	11	.	.	ENST00000355072.5:c.2218G>A	p.Asp740Asn	p.D740N	ENST00000355072	NM_002111.6	740	Gac/Aac	0	1	1	UPI000013D567	0	NA	ENST00000355072		ENSG00000197386	4851		48	1.59		HGNC	p.D740N		HTT		SNV			1				ENST00000355072	protein_coding	getma.org/?cm=var&var=hg19,4,3133484,G,A&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10,Superfamily_domains:SSF48371		D/N		A	low	2363/13464		getma.org/?cm=msa&ty=f&p=HD_HUMAN&rb=615&re=814&var=D740N		D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,missense_variant,p.Asp740Asn,ENST00000355072,NM_002111.6;HTT,non_coding_transcript_exon_variant,,ENST00000510626,;							MODERATE	2218/9429	D740N	HD_HUMAN			Transcript		benign(0.005)	.	ENSP00000347184		CCDS43206.1			1	
USP8	0	LGGM	GRCh37	15	50788114	50788114	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	30	11	.	.	ENST00000433963.1:c.2728G>T	p.Ala910Ser	p.A910S	ENST00000433963	NM_001128611.1	910	Gcc/Tcc	0	1		UPI0000030306	0	getma.org/pdb.php?prot=UBP8_HUMAN&from=774&to=1106&var=A910S	ENST00000307179		ENSG00000138592	12631		41	0.29		HGNC	p.A910S		USP8		SNV			1				ENST00000307179	protein_coding	getma.org/?cm=var&var=hg19,15,50788114,G,T&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF350,Pfam_domain:PF00443,Superfamily_domains:SSF54001		A/S		T	neutral	2926/4243		getma.org/?cm=msa&ty=f&p=UBP8_HUMAN&rb=774&re=1106&var=A910S	deleterious(0.03)	H0YNL5_HUMAN,H0YM17_HUMAN,H0YLH2_HUMAN				USP8,missense_variant,p.Ala910Ser,ENST00000433963,NM_001128611.1;USP8,missense_variant,p.Ala910Ser,ENST00000396444,NM_001128610.1,NM_005154.3;USP8,missense_variant,p.Ala910Ser,ENST00000307179,;USP8,missense_variant,p.Ala804Ser,ENST00000425032,NM_001283049.1;USP50,downstream_gene_variant,,ENST00000532404,NM_203494.4;RP11-562A8.5,intron_variant,,ENST00000560159,;RP11-562A8.4,downstream_gene_variant,,ENST00000560380,;USP50,downstream_gene_variant,,ENST00000530218,;USP8,non_coding_transcript_exon_variant,,ENST00000419830,;USP8,upstream_gene_variant,,ENST00000560379,;USP50,downstream_gene_variant,,ENST00000559105,;							MODERATE	2728/3357	A910S	UBP8_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000302239		CCDS10137.1			1	
KCNA6	0	LGGM	GRCh37	12	4920011	4920011	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	12	11	.	.	ENST00000433855.1:c.804G>A	p.Thr268=	p.T268=	ENST00000433855	NM_002235.3	268	acG/acA	0	1		UPI00001279AD	0		ENST00000280684		ENSG00000151079	6225		23			HGNC	p.T268T	COSM4042271	KCNA6		SNV						1	ENST00000433855	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Gene3D:1.20.120.350,Pfam_domain:PF00520,Superfamily_domains:SSF81324,Prints_domain:PR00169		T		A		1670/4237								KCNA6,synonymous_variant,p.=,ENST00000433855,NM_002235.3;KCNA6,synonymous_variant,p.=,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;					1		LOW	804/1590		KCNA6_HUMAN			Transcript			.	ENSP00000280684		CCDS8534.1			1	
KTN1	0	LGGM	GRCh37	14	56103991	56103991	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	30	12	.	.	ENST00000395314.3:c.1625C>G	p.Ser542Ter	p.S542*	ENST00000395314	NM_001079521.1	542	tCa/tGa	0	1	1	UPI0000190F88	0	NA	ENST00000395314		ENSG00000126777	6467		42	0		HGNC	p.S542X		KTN1		SNV							ENST00000395311	protein_coding	getma.org/?cm=var&var=hg19,14,56103991,C,G&fts=all		hmmpanther:PTHR18864		S/*		G	NA	1693/4618		NA		Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,stop_gained,p.Ser542Ter,ENST00000416613,;KTN1,stop_gained,p.Ser542Ter,ENST00000395314,NM_001079521.1;KTN1,stop_gained,p.Ser542Ter,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,stop_gained,p.Ser542Ter,ENST00000395311,;KTN1,stop_gained,p.Ser542Ter,ENST00000438792,NM_004986.3;KTN1,stop_gained,p.Ser542Ter,ENST00000395309,;KTN1,stop_gained,p.Ser542Ter,ENST00000395308,;KTN1,5_prime_UTR_variant,,ENST00000554567,;KTN1,stop_gained,p.Ser542Ter,ENST00000459737,;KTN1,upstream_gene_variant,,ENST00000553360,;							HIGH	1625/4074	S542*	KTN1_HUMAN			Transcript			.	ENSP00000378725		CCDS41957.1			1	
CDCA2	0	LGGM	GRCh37	8	25319623	25319623	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	24	12	.	.	ENST00000330560.3:c.286C>T	p.Arg96Trp	p.R96W	ENST00000330560	NM_152562.2	96	Cgg/Tgg	0	1	1	UPI000013DF9A	0	NA	ENST00000330560		ENSG00000184661	14623		36	2.32		HGNC	p.R81W	rs747346434	CDCA2	6.06E-05	SNV							ENST00000380665	protein_coding	getma.org/?cm=var&var=hg19,8,25319623,C,T&fts=all		hmmpanther:PTHR21603:SF2,hmmpanther:PTHR21603		R/W		T	medium	763/3731		getma.org/?cm=msa&ty=f&p=CDCA2_HUMAN&rb=1&re=385&var=R96W	deleterious(0)				YES	CDCA2,missense_variant,p.Arg96Trp,ENST00000330560,NM_152562.2;CDCA2,missense_variant,p.Arg81Trp,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,;	0.000116						MODERATE	286/3072	R96W	CDCA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000328228	1.65E-05	CCDS6049.1			1	
MDN1	0	LGGM	GRCh37	6	90359797	90359797	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	57	13	.	.	ENST00000369393.3:c.16152G>T	p.Gln5384His	p.Q5384H	ENST00000369393		5384	caG/caT	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		70	3.275		HGNC	p.Q5384H		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90359797,C,A&fts=all		PIRSF_domain:PIRSF010340,PROSITE_profiles:PS50234,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00327,Superfamily_domains:SSF53300		Q/H		A	medium	16268/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=5300&re=5594&var=Q5384H		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Gln5384His,ENST00000369393,;MDN1,missense_variant,p.Gln5384His,ENST00000428876,NM_014611.1;							MODERATE	16152/16791	Q5384H	MDN1_HUMAN			Transcript		unknown(0)	.	ENSP00000358400		CCDS5024.1			1	
LPL	0	LGGM	GRCh37	8	19811669	19811669	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	23	13	.	.	ENST00000311322.8:c.580G>A	p.Ala194Thr	p.A194T	ENST00000311322	NM_000237.2	194	Gcc/Acc	0	1	1	UPI0000036334	0	getma.org/pdb.php?prot=LIPL_HUMAN&from=16&to=338&var=A194T	ENST00000311322		ENSG00000175445	6677		36	1.04		HGNC	p.A194T		LPL		SNV			1				ENST00000311322	protein_coding	getma.org/?cm=var&var=hg19,8,19811669,G,A&fts=all		hmmpanther:PTHR11610:SF3,hmmpanther:PTHR11610,TIGRFAM_domain:TIGR03230,Pfam_domain:PF00151,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF000865,Superfamily_domains:SSF53474		A/T		A	low	1050/3846		getma.org/?cm=msa&ty=f&p=LIPL_HUMAN&rb=16&re=338&var=A194T	tolerated(0.51)	Q71UV2_HUMAN,Q4JIZ7_HUMAN,E7EW14_HUMAN,E5RJI0_HUMAN,E5RHN7_HUMAN			YES	LPL,missense_variant,p.Ala194Thr,ENST00000311322,NM_000237.2;LPL,downstream_gene_variant,,ENST00000524029,;LPL,downstream_gene_variant,,ENST00000520959,;LPL,downstream_gene_variant,,ENST00000522701,;LPL,downstream_gene_variant,,ENST00000521994,;							MODERATE	580/1428	A194T	LIPL_HUMAN			Transcript		benign(0.378)	.	ENSP00000309757		CCDS6012.1			1	
HNRNPA3	0	LGGM	GRCh37	2	178083814	178083814	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	28	13	.	.	ENST00000392524.2:c.1011A>C	p.Gly337=	p.G337=	ENST00000392524		337	ggA/ggC	0	1	1	UPI00001BE8DE	0		ENST00000392524		ENSG00000170144	24941		41			HGNC	p.G74G		HNRNPA3		SNV							ENST00000432457	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24012:SF284,hmmpanther:PTHR24012		G		C		1248/2067				Q8NFG3_HUMAN			YES	HNRNPA3,synonymous_variant,p.=,ENST00000411529,NM_194247.2;HNRNPA3,synonymous_variant,p.=,ENST00000392524,;HNRNPA3,synonymous_variant,p.=,ENST00000435711,;HNRNPA3,synonymous_variant,p.=,ENST00000432457,;HNRNPA3,upstream_gene_variant,,ENST00000483137,;							LOW	1011/1137		ROA3_HUMAN			Transcript			.	ENSP00000376309		CCDS2273.1			1	
FAM135A	0	LGGM	GRCh37	6	71234515	71234515	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	53	13	.	.	ENST00000418814.2:c.1728G>A	p.Leu576=	p.L576=	ENST00000418814	NM_001162529.1	576	ttG/ttA	0	1		UPI0000D61481	0		ENST00000370479		ENSG00000082269	21084		66			HGNC	p.L576L		FAM135A		SNV							ENST00000505868	protein_coding							A		-/5676								FAM135A,synonymous_variant,p.=,ENST00000418814,NM_001162529.1,NM_001105531.2;FAM135A,synonymous_variant,p.=,ENST00000505868,;FAM135A,intron_variant,,ENST00000370479,;FAM135A,intron_variant,,ENST00000457062,NM_020819.4;FAM135A,intron_variant,,ENST00000361499,;FAM135A,intron_variant,,ENST00000505769,;FAM135A,downstream_gene_variant,,ENST00000515323,;FAM135A,intron_variant,,ENST00000194672,;FAM135A,downstream_gene_variant,,ENST00000393299,;							MODIFIER	-/3909		F135A_HUMAN			Transcript			.	ENSP00000359510		CCDS34481.1			1	
VPS26A	0	LGGM	GRCh37	10	70916785	70916785	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	23	13	.	.	ENST00000373382.1:c.252T>C	p.Asn84=	p.N84=	ENST00000373382		84	aaT/aaC	0	1		UPI0000138BC6	0		ENST00000263559		ENSG00000122958	12711		36			HGNC	p.N84N		VPS26A		SNV							ENST00000395098	protein_coding			Pfam_domain:PF03643,hmmpanther:PTHR12233,hmmpanther:PTHR12233:SF4		N		C		378/2697				G3V1N8_HUMAN				VPS26A,synonymous_variant,p.=,ENST00000373382,;VPS26A,synonymous_variant,p.=,ENST00000263559,NM_004896.3;VPS26A,synonymous_variant,p.=,ENST00000395098,NM_001035260.1;VPS26A,synonymous_variant,p.=,ENST00000546041,;VPS26A,synonymous_variant,p.=,ENST00000489794,;VPS26A,5_prime_UTR_variant,,ENST00000541711,;VPS26A,non_coding_transcript_exon_variant,,ENST00000490696,;VPS26A,non_coding_transcript_exon_variant,,ENST00000497564,;VPS26A,intron_variant,,ENST00000467852,;VPS26A,missense_variant,p.Ile59Thr,ENST00000489656,;RP11-259F16.3,downstream_gene_variant,,ENST00000438591,;							LOW	252/984		VP26A_HUMAN			Transcript			.	ENSP00000263559		CCDS7286.1			1	
DMXL2	0	LGGM	GRCh37	15	51827878	51827878	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	31	14	.	.	ENST00000543779.2:c.2418G>T	p.Leu806Phe	p.L806F	ENST00000543779		806	ttG/ttT	0	1		UPI000013CCDD	0	NA	ENST00000251076		ENSG00000104093	2938		45	2.3		HGNC	p.L806F		DMXL2		SNV							ENST00000449909	protein_coding	getma.org/?cm=var&var=hg19,15,51827878,C,A&fts=all		hmmpanther:PTHR13950,hmmpanther:PTHR13950:SF11		L/F		A	medium	2706/10672		getma.org/?cm=msa&ty=f&p=DMXL2_HUMAN&rb=670&re=869&var=L806F	deleterious(0)					DMXL2,missense_variant,p.Leu806Phe,ENST00000251076,NM_015263.3,NM_001174116.1;DMXL2,missense_variant,p.Leu806Phe,ENST00000543779,;DMXL2,missense_variant,p.Leu806Phe,ENST00000449909,NM_001174117.1;							MODERATE	2418/9111	L806F	DMXL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251076		CCDS10141.1			1	
CC2D2B	0	LGGM	GRCh37	10	97784625	97784625	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	27	14	.	.	ENST00000410012.2:c.796T>C	p.Tyr266His	p.Y266H	ENST00000410012	NM_001159747.1	266	Tat/Cat	0	1		UPI0000D4C251	0	NA	ENST00000344386		ENSG00000188649	31666		41	2.07		HGNC	p.Y266H		CC2D2B		SNV							ENST00000410012	protein_coding	getma.org/?cm=var&var=hg19,10,97784625,T,C&fts=all						C	medium	-/1809		getma.org/?cm=msa&ty=f&p=B4DYD4_HUMAN&rb=4&re=399&var=Y266H						CC2D2B,missense_variant,p.Tyr266His,ENST00000410012,NM_001159747.1;CC2D2B,intron_variant,,ENST00000371198,;CC2D2B,intron_variant,,ENST00000344386,NM_001001732.3;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000451364,;ENTPD1-AS1,intron_variant,,ENST00000449197,;RP11-690P14.4,intron_variant,,ENST00000475252,;							MODIFIER	-/969	Y266H	C2D2B_HUMAN			Transcript			.	ENSP00000343747		CCDS41555.1			1	
NF1	0	LGGM	GRCh37	17	29553610	29553610	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	73	14	.	.	ENST00000358273.4:c.2159G>A	p.Arg720Gln	p.R720Q	ENST00000358273	NM_001042492.2	720	cGg/cAg	0	1	1	UPI000012FFAE	0	NA	ENST00000358273		ENSG00000196712	7765		87	0.895		HGNC	p.R754Q		NF1		SNV			1				ENST00000579081	protein_coding	getma.org/?cm=var&var=hg19,17,29553610,G,A&fts=all		hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		R/Q		A	low	2542/12425		getma.org/?cm=msa&ty=f&p=NF1_HUMAN&rb=601&re=800&var=R720Q	tolerated(0.18)	Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	NF1,missense_variant,p.Arg720Gln,ENST00000358273,NM_001042492.2;NF1,missense_variant,p.Arg720Gln,ENST00000356175,NM_000267.3;NF1,missense_variant,p.Arg386Gln,ENST00000456735,;NF1,downstream_gene_variant,,ENST00000431387,NM_001128147.2;NF1,missense_variant,p.Arg754Gln,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000493220,;							MODERATE	2159/8520	R720Q	NF1_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000351015		CCDS42292.1			1	
EVI5	0	LGGM	GRCh37	1	92979218	92979218	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	67	15	.	.	ENST00000370331.1:c.2428G>T	p.Val810Phe	p.V810F	ENST00000370331	NM_005665.4	810	Gtc/Ttc	0	1	1	UPI0000470AFE	0	NA	ENST00000370331		ENSG00000067208	3501		82	0		HGNC	p.V821F		EVI5		SNV							ENST00000543509	protein_coding	getma.org/?cm=var&var=hg19,1,92979218,C,A&fts=all				V/F		A	neutral	2438/7403		getma.org/?cm=msa&ty=f&p=EVI5_HUMAN&rb=780&re=810&var=V810F	deleterious_low_confidence(0)				YES	EVI5,missense_variant,p.Val810Phe,ENST00000370331,NM_005665.4;EVI5,missense_variant,p.Val810Phe,ENST00000540033,;EVI5,missense_variant,p.Val821Phe,ENST00000543509,;							MODERATE	2428/2433	V810F	EVI5_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000359356		CCDS30774.1			1	
RALGAPB	0	LGGM	GRCh37	20	37154658	37154658	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	48	15	.	.	ENST00000262879.6:c.2023G>A	p.Asp675Asn	p.D675N	ENST00000262879		675	Gac/Aac	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		63	2.095		HGNC	p.D503N		RALGAPB		SNV							ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37154658,G,A&fts=all		hmmpanther:PTHR21344		D/N		A	medium	2307/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=601&re=800&var=D675N	deleterious(0)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Asp675Asn,ENST00000262879,;RALGAPB,missense_variant,p.Asp675Asn,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Asp453Asn,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Asp675Asn,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Asp503Asn,ENST00000438490,;RALGAPB,downstream_gene_variant,,ENST00000537204,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,;							MODERATE	2023/4485	D675N	RLGPB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262879		CCDS13305.1			1	
DOCK5	0	LGGM	GRCh37	8	25266319	25266319	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	40	15	.	.	ENST00000276440.7:c.5267G>T	p.Ser1756Ile	p.S1756I	ENST00000276440	NM_024940.6	1756	aGc/aTc	0	1	1	UPI000022D4F3	0	NA	ENST00000276440		ENSG00000147459	23476		55	0.695		HGNC	p.S1756I		DOCK5		SNV							ENST00000276440	protein_coding	getma.org/?cm=var&var=hg19,8,25266319,G,T&fts=all				S/I		T	neutral	5311/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=1708&re=1777&var=S1756I	tolerated(0.08)				YES	DOCK5,missense_variant,p.Ser1756Ile,ENST00000276440,NM_024940.6;DOCK5,splice_region_variant,,ENST00000467709,;DOCK5,upstream_gene_variant,,ENST00000521405,;DOCK5,upstream_gene_variant,,ENST00000479547,;							MODERATE	5267/5613	S1756I	DOCK5_HUMAN			Transcript		benign(0.014)	.	ENSP00000276440		CCDS6047.1			1	
SLC17A1	0	LGGM	GRCh37	6	25820039	25820039	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	34	15	.	.	ENST00000244527.4:c.312A>G	p.Ile104Met	p.I104M	ENST00000244527	NM_005074.3	104	atA/atG	0	1	1	UPI00000719C0	0	NA	ENST00000244527		ENSG00000124568	10929		49	1.52		HGNC	p.I104M		SLC17A1		SNV							ENST00000377886	protein_coding	getma.org/?cm=var&var=hg19,6,25820039,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF26,Pfam_domain:PF07690,TIGRFAM_domain:TIGR00894,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		I/M		C	low	428/1844		getma.org/?cm=msa&ty=f&p=NPT1_HUMAN&rb=26&re=409&var=I104M	tolerated(0.1)	Q96PF5_HUMAN,Q96KL5_HUMAN			YES	SLC17A1,missense_variant,p.Ile104Met,ENST00000244527,NM_005074.3;SLC17A1,missense_variant,p.Ile104Met,ENST00000476801,;SLC17A1,missense_variant,p.Ile104Met,ENST00000427328,;SLC17A1,missense_variant,p.Ile104Met,ENST00000468082,;SLC17A1,missense_variant,p.Ile104Met,ENST00000377886,;							MODERATE	312/1404	I104M	NPT1_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000244527		CCDS4565.1			1	
CNOT1	0	LGGM	GRCh37	16	58589801	58589801	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	31	15	.	.	ENST00000317147.5:c.2491C>T	p.Gln831Ter	p.Q831*	ENST00000317147	NM_016284.4	831	Cag/Tag	0	1	1	UPI00001FF2F6	0	NA	ENST00000317147		ENSG00000125107	7877		46	0		HGNC	p.Q240X	COSM435462,COSM435463	CNOT1		SNV						1,1	ENST00000569882	protein_coding	getma.org/?cm=var&var=hg19,16,58589801,G,A&fts=all		hmmpanther:PTHR13162:SF8,hmmpanther:PTHR13162		Q/*		A	NA	2824/8471		NA		H3BUY8_HUMAN,H3BT18_HUMAN,H3BPF1_HUMAN,B7Z6X2_HUMAN,B3KS60_HUMAN			YES	CNOT1,stop_gained,p.Gln831Ter,ENST00000317147,NM_016284.4,NM_001265612.1;CNOT1,stop_gained,p.Gln826Ter,ENST00000569240,;CNOT1,stop_gained,p.Gln831Ter,ENST00000441024,NM_206999.2;CNOT1,stop_gained,p.Gln240Ter,ENST00000569882,;CNOT1,stop_gained,p.Gln60Ter,ENST00000562046,;CNOT1,upstream_gene_variant,,ENST00000245138,;CNOT1,upstream_gene_variant,,ENST00000567285,;SNORA50,downstream_gene_variant,,ENST00000384225,NR_002980.1;CNOT1,non_coding_transcript_exon_variant,,ENST00000569732,;CNOT1,stop_gained,p.Gln826Ter,ENST00000567188,;					1,1		HIGH	2491/7131	Q831*	CNOT1_HUMAN			Transcript			.	ENSP00000320949		CCDS10799.1			1	
POU4F3	0	LGGM	GRCh37	5	145719248	145719248	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	35	15	.	.	ENST00000230732.4:c.258G>T	p.Val86=	p.V86=	ENST00000230732	NM_002700.2	86	gtG/gtT	0	1	1	UPI0000131D91	0		ENST00000230732		ENSG00000091010	9220		50			HGNC	p.V86V		POU4F3		SNV			1				ENST00000230732	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11636,hmmpanther:PTHR11636:SF43		V		T		347/1182							YES	POU4F3,synonymous_variant,p.=,ENST00000230732,NM_002700.2;RBM27,downstream_gene_variant,,ENST00000506502,;CTC-359M8.1,intron_variant,,ENST00000515598,;							LOW	258/1017		PO4F3_HUMAN			Transcript			.	ENSP00000230732		CCDS4281.1			1	
HIST1H2BD	0	LGGM	GRCh37	6	26158724	26158724	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	66	16	.	.	ENST00000289316.2:c.327G>A	p.Lys109=	p.K109=	ENST00000289316	NM_138720.2	109	aaG/aaA	0	1	1	UPI0000001BD3	0		ENST00000289316		ENSG00000158373	4747		82			HGNC	p.K109K		HIST1H2BD		SNV							ENST00000377777	protein_coding			Prints_domain:PR00621,Prints_domain:PR00621,Superfamily_domains:SSF47113,SMART_domains:SM00427,PROSITE_patterns:PS00357,Gene3D:1.10.20.10,hmmpanther:PTHR23428		K		A		351/789							YES	HIST1H2BD,synonymous_variant,p.=,ENST00000289316,NM_138720.2;HIST1H2BD,synonymous_variant,p.=,ENST00000377777,NM_021063.3;HIST1H1E,downstream_gene_variant,,ENST00000304218,NM_005321.2;							LOW	327/381		H2B1D_HUMAN			Transcript			.	ENSP00000289316		CCDS4587.1			1	
LAMB1	0	LGGM	GRCh37	7	107600269	107600269	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	13	16	.	.	ENST00000222399.6:c.2325C>T	p.Cys775=	p.C775=	ENST00000222399	NM_002291.2	775	tgC/tgT	0	1	1	UPI00001AE63F	0		ENST00000222399		ENSG00000091136	6486	0.0001	29			HGNC	p.C799C	rs569047489,COSM1083945	LAMB1	6.78E-05	SNV			1	0.000112		0,1	ENST00000393561	protein_coding			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		C		A		2556/5725				Q75MC8_HUMAN,E9PCS6_HUMAN			YES	LAMB1,synonymous_variant,p.=,ENST00000393561,;LAMB1,synonymous_variant,p.=,ENST00000222399,NM_002291.2;LAMB1,synonymous_variant,p.=,ENST00000393560,;					0,1		LOW	2325/5361		LAMB1_HUMAN			Transcript			.	ENSP00000222399	4.12E-05	CCDS5750.1			1	
GABRP	0	LGGM	GRCh37	5	170239029	170239029	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	75	16	.	.	ENST00000518525.1:c.1090C>T	p.Arg364Trp	p.R364W	ENST00000518525		364	Cgg/Tgg	0	1		UPI000003C534	0	NA	ENST00000265294		ENSG00000094755	4089		91	0.345		HGNC	p.R364W		GABRP		SNV							ENST00000265294	protein_coding	getma.org/?cm=var&var=hg19,5,170239029,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF470,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112		R/W		T	neutral	1288/3310		getma.org/?cm=msa&ty=f&p=GBRP_HUMAN&rb=249&re=367&var=R364W	deleterious(0.01)	E5RK74_HUMAN,E5RHU0_HUMAN,E5RHF6_HUMAN,E5RGF7_HUMAN,E5RG98_HUMAN				GABRP,missense_variant,p.Arg364Trp,ENST00000518525,;GABRP,missense_variant,p.Arg364Trp,ENST00000265294,NM_014211.2;GABRP,3_prime_UTR_variant,,ENST00000519385,;GABRP,downstream_gene_variant,,ENST00000519598,;							MODERATE	1090/1323	R364W	GBRP_HUMAN			Transcript		possibly_damaging(0.828)	.	ENSP00000265294		CCDS4375.1			1	
ATP10B	0	LGGM	GRCh37	5	160033985	160033985	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	48	17	.	.	ENST00000327245.5:c.2947C>A	p.Pro983Thr	p.P983T	ENST00000327245	NM_025153.2	983	Cca/Aca	0	1	1	UPI0000191DAE	0	NA	ENST00000327245		ENSG00000118322	13543		65	2.075		HGNC	p.P983T		ATP10B		SNV							ENST00000327245	protein_coding	getma.org/?cm=var&var=hg19,5,160033985,G,T&fts=all		Superfamily_domains:SSF56784,Pfam_domain:PF12710,TIGRFAM_domain:TIGR01652,hmmpanther:PTHR24092:SF42,hmmpanther:PTHR24092		P/T		T	medium	3794/7566		getma.org/?cm=msa&ty=f&p=AT10B_HUMAN&rb=430&re=1064&var=P983T	tolerated(0.06)				YES	ATP10B,missense_variant,p.Pro983Thr,ENST00000327245,NM_025153.2;ATP10B,upstream_gene_variant,,ENST00000523758,;ATP10B,downstream_gene_variant,,ENST00000522169,;ATP10B,upstream_gene_variant,,ENST00000517815,;							MODERATE	2947/4386	P983T	AT10B_HUMAN			Transcript		benign(0.052)	.	ENSP00000313600		CCDS43394.1			1	
CEP290	0	LGGM	GRCh37	12	88471481	88471481	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	33	17	.	.	ENST00000552810.1:c.5579G>T	p.Gly1860Val	p.G1860V	ENST00000552810	NM_025114.3	1860	gGa/gTa	0	1	1	UPI0000D60D15	0	NA	ENST00000552810		ENSG00000198707	29021		50	2.015		HGNC	p.G920V		CEP290		SNV			1				ENST00000547691	protein_coding	getma.org/?cm=var&var=hg19,12,88471481,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879		G/V		A	medium	5923/7948		getma.org/?cm=msa&ty=f&p=CE290_HUMAN&rb=1786&re=2419&var=G1860V					YES	CEP290,missense_variant,p.Gly1860Val,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Gly1862Val,ENST00000309041,;CEP290,missense_variant,p.Gly920Val,ENST00000397838,;CEP290,missense_variant,p.Gly920Val,ENST00000547691,;							MODERATE	5579/7440	G1860V	CE290_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000448012		CCDS55858.1			1	
WDR52	0	LGGM	GRCh37	3	113049203	113049203	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	69	17	.	.	ENST00000393845.2:c.3928T>C	p.Ser1310Pro	p.S1310P	ENST00000393845	NM_001164496.1	1310	Tct/Cct	0	1	1	UPI0000367198	0	NA	ENST00000393845		ENSG00000206530	25631		86	0.205		HGNC	p.S1310P		WDR52		SNV							ENST00000393845	protein_coding	getma.org/?cm=var&var=hg19,3,113049203,A,G&fts=all				S/P		G	neutral	3995/10259		getma.org/?cm=msa&ty=f&p=Q9UF55_HUMAN&rb=23&re=988&var=S446P	tolerated(0.41)	C9K0A4_HUMAN			YES	WDR52,missense_variant,p.Ser1310Pro,ENST00000393845,NM_001164496.1;WDR52,missense_variant,p.Ser447Pro,ENST00000465636,;WDR52,upstream_gene_variant,,ENST00000308346,;WDR52,upstream_gene_variant,,ENST00000461734,;WDR52,downstream_gene_variant,,ENST00000490481,;							MODERATE	3928/5565	S446P	WDR52_HUMAN			Transcript		benign(0.009)	.	ENSP00000377428		CCDS54624.1			1	
TM9SF2	0	LGGM	GRCh37	13	100189991	100189991	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	48	18	.	.	ENST00000376387.4:c.592-2A>G		p.X198_splice	ENST00000376387	NM_004800.2			0	1	1	UPI000013684D	0		ENST00000376387		ENSG00000125304	11865		66			HGNC	-		TM9SF2		SNV							ENST00000376387	protein_coding							G		-/3430							YES	TM9SF2,splice_acceptor_variant,,ENST00000376387,NM_004800.2;RNY3P6,upstream_gene_variant,,ENST00000390895,;TM9SF2,splice_acceptor_variant,,ENST00000463709,;TM9SF2,upstream_gene_variant,,ENST00000466555,;							HIGH	592/1992		TM9S2_HUMAN			Transcript			.	ENSP00000365567		CCDS9493.1			1	
DYRK1A	0	LGGM	GRCh37	21	38884403	38884403	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	22	18	.	.	ENST00000398960.2:c.1861C>A	p.Gln621Lys	p.Q621K	ENST00000398960	NM_001396.3	621	Caa/Aaa	0	1	1	UPI0000129A31	0	NA	ENST00000398960		ENSG00000157540	3091		40	0.55		HGNC	p.Q612K		DYRK1A		SNV			1				ENST00000339659	protein_coding	getma.org/?cm=var&var=hg19,21,38884403,C,A&fts=all		hmmpanther:PTHR24058,hmmpanther:PTHR24058:SF28		Q/K		A	neutral	1936/2422		getma.org/?cm=msa&ty=f&p=DYR1A_HUMAN&rb=567&re=761&var=Q621K	tolerated_low_confidence(0.78)	Q76N25_HUMAN,N0GVR9_HUMAN,F8WAP0_HUMAN,E7EMI5_HUMAN			YES	DYRK1A,missense_variant,p.Gln612Lys,ENST00000339659,NM_130436.2;DYRK1A,missense_variant,p.Gln621Lys,ENST00000398960,NM_001396.3,NM_130438.2;DYRK1A,missense_variant,p.Gln393Lys,ENST00000455387,;DYRK1A,3_prime_UTR_variant,,ENST00000338785,NM_101395.2;DYRK1A,downstream_gene_variant,,ENST00000398956,;AP001421.1,upstream_gene_variant,,ENST00000597817,;							MODERATE	1861/2292	Q621K	DYR1A_HUMAN			Transcript		benign(0.025)	.	ENSP00000381932		CCDS42925.1			1	
FGFR2	0	LGGM	GRCh37	10	123325170	123325170	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	45	18	.	.	ENST00000358487.5:c.158C>T	p.Ala53Val	p.A53V	ENST00000358487	NM_000141.4	53	gCg/gTg	0	1		UPI000012A72A	0	getma.org/pdb.php?prot=FGFR2_HUMAN&from=37&to=125&var=A53V	ENST00000358487		ENSG00000066468	3689		63	0.185		HGNC	p.A53V	rs371358242	FGFR2	6.06E-05	SNV	A:0		1				ENST00000359354	protein_coding	getma.org/?cm=var&var=hg19,10,123325170,G,A&fts=all	A:0	PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF130,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF48726		A/V	A:0.0001	A	neutral	431/4255	1.50E-05	getma.org/?cm=msa&ty=f&p=FGFR2_HUMAN&rb=37&re=125&var=A53V	tolerated(0.52)	Q9UMA9_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN	A:0	A:0		FGFR2,missense_variant,p.Ala53Val,ENST00000358487,NM_000141.4;FGFR2,missense_variant,p.Ala53Val,ENST00000369061,NM_001144914.1;FGFR2,missense_variant,p.Ala53Val,ENST00000369060,NM_001144917.1;FGFR2,missense_variant,p.Ala53Val,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Ala53Val,ENST00000351936,;FGFR2,missense_variant,p.Ala53Val,ENST00000369058,;FGFR2,missense_variant,p.Ala53Val,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Ala53Val,ENST00000346997,;FGFR2,missense_variant,p.Ala53Val,ENST00000359354,;FGFR2,intron_variant,,ENST00000357555,NM_023029.2,NM_001144915.1;FGFR2,intron_variant,,ENST00000356226,NM_001144918.1,NM_001144916.1;FGFR2,intron_variant,,ENST00000369059,;FGFR2,intron_variant,,ENST00000360144,NM_001144919.1;FGFR2,intron_variant,,ENST00000336553,;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,;FGFR2,non_coding_transcript_exon_variant,,ENST00000491475,;FGFR2,intron_variant,,ENST00000604236,;		A:0.0002					MODERATE	158/2466	A53V	FGFR2_HUMAN		A:0	Transcript		benign(0.005)	.	ENSP00000351276	1.65E-05	CCDS31298.1		A:0.001	1	
TRIM46	0	LGGM	GRCh37	1	155147951	155147951	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	42	19	.	.	ENST00000334634.4:c.153C>G	p.Asn51Lys	p.N51K	ENST00000334634	NM_001282378.1	51	aaC/aaG	0	1	1	UPI000022B316	0	NA	ENST00000334634		ENSG00000163462	19019		61	1.545		HGNC	p.N58K		TRIM46		SNV							ENST00000543729	protein_coding	getma.org/?cm=var&var=hg19,1,155147951,C,G&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00097,PROSITE_patterns:PS00518,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF27,SMART_domains:SM00184,Superfamily_domains:SSF57850		N/K		G	low	153/3061		getma.org/?cm=msa&ty=f&p=TRI46_HUMAN&rb=33&re=68&var=N51K	deleterious(0.01)	F5GYK0_HUMAN			YES	TRIM46,missense_variant,p.Asn51Lys,ENST00000392451,;TRIM46,missense_variant,p.Asn28Lys,ENST00000368382,NM_001256600.1,NM_001256599.1,NM_025058.4,NM_001256601.1;TRIM46,missense_variant,p.Asn51Lys,ENST00000334634,NM_001282378.1,NM_001256601.1;TRIM46,missense_variant,p.Asn51Lys,ENST00000368383,;TRIM46,missense_variant,p.Asn51Lys,ENST00000368385,NM_001282379.1;TRIM46,missense_variant,p.Asn58Lys,ENST00000543729,;TRIM46,intron_variant,,ENST00000545012,;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,,ENST00000463527,;KRTCAP2,upstream_gene_variant,,ENST00000492892,;KRTCAP2,upstream_gene_variant,,ENST00000482246,;KRTCAP2,upstream_gene_variant,,ENST00000461136,;							MODERATE	153/2280	N51K	TRI46_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000334657		CCDS1097.1			1	
PCDHB5	0	LGGM	GRCh37	5	140517145	140517145	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	71	19	.	.	ENST00000231134.5:c.2129T>A	p.Val710Glu	p.V710E	ENST00000231134	NM_015669.2	710	gTg/gAg	0	1	1	UPI00001273E1	0	NA	ENST00000231134		ENSG00000113209	8690		90	3.795		HGNC	p.V710E		PCDHB5		SNV							ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140517145,T,A&fts=all		hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		V/E		A	high	2346/2904		getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=663&re=795&var=V710E	deleterious_low_confidence(0)				YES	PCDHB5,missense_variant,p.Val710Glu,ENST00000231134,NM_015669.2;							MODERATE	2129/2388	V710E	PCDB5_HUMAN			Transcript		possibly_damaging(0.784)	.	ENSP00000231134		CCDS4247.1			1	
SLC44A5	0	LGGM	GRCh37	1	75685511	75685511	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	20	20	.	.	ENST00000370855.5:c.1152C>T	p.Cys384=	p.C384=	ENST00000370855	NM_152697.4	384	tgC/tgT	0	1	1	UPI000013E195	0		ENST00000370855		ENSG00000137968	28524		40			HGNC	p.C384C		SLC44A5		SNV							ENST00000370855	protein_coding			Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42,Transmembrane_helices:TMhelix		C		A		1266/4406				B7Z473_HUMAN			YES	SLC44A5,synonymous_variant,p.=,ENST00000370855,NM_152697.4;SLC44A5,synonymous_variant,p.=,ENST00000370859,NM_001130058.1;SLC44A5,synonymous_variant,p.=,ENST00000535611,;							LOW	1152/2160		CTL5_HUMAN			Transcript			.	ENSP00000359892		CCDS667.1			1	
SFPQ	0	LGGM	GRCh37	1	35652707	35652707	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	32	20	.	.	ENST00000357214.5:c.1881A>C	p.Gly627=	p.G627=	ENST00000357214	NM_005066.2	627	ggA/ggC	0	1	1	UPI00001358B9	0		ENST00000357214		ENSG00000116560	10774		52			HGNC	p.G627G		SFPQ		SNV			1				ENST00000357214	protein_coding			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF42,Low_complexity_(Seg):seg		G		G		1980/3747				Q9BSV4_HUMAN			YES	SFPQ,synonymous_variant,p.=,ENST00000357214,NM_005066.2;SFPQ,synonymous_variant,p.=,ENST00000470472,;SFPQ,synonymous_variant,p.=,ENST00000460428,;							LOW	1881/2124		SFPQ_HUMAN			Transcript			.	ENSP00000349748		CCDS388.1			1	
MDN1	0	LGGM	GRCh37	6	90438749	90438749	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	40	20	.	.	ENST00000369393.3:c.5250C>T	p.Leu1750=	p.L1750=	ENST00000369393		1750	ctC/ctT	0	1	1	UPI000013C4B8	0		ENST00000369393		ENSG00000112159	18302		60			HGNC	p.L1750L	rs776590217	MDN1		SNV							ENST00000428876	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF07728,PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		L		A		5366/18413				M0QXR3_HUMAN			YES	MDN1,synonymous_variant,p.=,ENST00000369393,;MDN1,synonymous_variant,p.=,ENST00000428876,NM_014611.1;							LOW	5250/16791		MDN1_HUMAN			Transcript			.	ENSP00000358400		CCDS5024.1			1	
ZNF804A	0	LGGM	GRCh37	2	185801346	185801346	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	46	20	.	.	ENST00000302277.6:c.1223A>G	p.Asn408Ser	p.N408S	ENST00000302277	NM_194250.1	408	aAc/aGc	0	1	1	UPI00001B4B18	0	NA	ENST00000302277		ENSG00000170396	21711		66	1.1		HGNC	p.N408S		ZNF804A		SNV							ENST00000302277	protein_coding	getma.org/?cm=var&var=hg19,2,185801346,A,G&fts=all		hmmpanther:PTHR17614:SF13,hmmpanther:PTHR17614		N/S		G	low	1817/4690		getma.org/?cm=msa&ty=f&p=Z804A_HUMAN&rb=285&re=484&var=N408S	tolerated(0.86)				YES	ZNF804A,missense_variant,p.Asn408Ser,ENST00000302277,NM_194250.1;							MODERATE	1223/3630	N408S	Z804A_HUMAN			Transcript		benign(0.079)	.	ENSP00000303252		CCDS2291.1			1	
NETO2	0	LGGM	GRCh37	16	47163191	47163191	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	111	20	.	.	ENST00000562435.1:c.176C>T	p.Ser59Leu	p.S59L	ENST00000562435	NM_018092.4	59	tCg/tTg	0	1	1	UPI000003C718	0	getma.org/pdb.php?prot=NETO2_HUMAN&from=45&to=156&var=S59L	ENST00000562435		ENSG00000171208	14644	8.66E-05	131	4.53		HGNC	p.S59L	rs751020123	NETO2		SNV							ENST00000303155	protein_coding	getma.org/?cm=var&var=hg19,16,47163191,G,A&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF314,SMART_domains:SM00042,Superfamily_domains:SSF49854		S/L		A	high	561/7481		getma.org/?cm=msa&ty=f&p=NETO2_HUMAN&rb=45&re=156&var=S59L	deleterious(0.02)				YES	NETO2,missense_variant,p.Ser59Leu,ENST00000562435,NM_018092.4;NETO2,missense_variant,p.Ser59Leu,ENST00000303155,NM_001201477.1;NETO2,upstream_gene_variant,,ENST00000562559,;							MODERATE	176/1578	S59L	NETO2_HUMAN			Transcript		possibly_damaging(0.597)	.	ENSP00000455169	8.24E-06	CCDS10727.1			1	
SLC44A5	0	LGGM	GRCh37	1	75685512	75685512	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	21	20	.	.	ENST00000370855.5:c.1151G>T	p.Cys384Phe	p.C384F	ENST00000370855	NM_152697.4	384	tGc/tTc	0	1	1	UPI000013E195	0	NA	ENST00000370855		ENSG00000137968	28524		41	0.915		HGNC	p.C384F		SLC44A5		SNV							ENST00000370855	protein_coding	getma.org/?cm=var&var=hg19,1,75685512,C,A&fts=all		Pfam_domain:PF04515,hmmpanther:PTHR12385,hmmpanther:PTHR12385:SF42,Transmembrane_helices:TMhelix		C/F		A	low	1265/4406		getma.org/?cm=msa&ty=f&p=CTL5_HUMAN&rb=327&re=691&var=C384F	deleterious(0.02)	B7Z473_HUMAN			YES	SLC44A5,missense_variant,p.Cys384Phe,ENST00000370855,NM_152697.4;SLC44A5,missense_variant,p.Cys384Phe,ENST00000370859,NM_001130058.1;SLC44A5,missense_variant,p.Cys254Phe,ENST00000535611,;							MODERATE	1151/2160	C384F	CTL5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359892		CCDS667.1			1	
OGG1	0	LGGM	GRCh37	3	9793528	9793528	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	33	22	.	.	ENST00000302036.7:c.460C>T	p.Arg154Cys	p.R154C	ENST00000302036	NM_016821.2	154	Cgc/Tgc	0	1		UPI0000130C46	0	getma.org/pdb.php?prot=OGG1_HUMAN&from=142&to=301&var=R154C	ENST00000344629		ENSG00000114026	8125		55	3.415		HGNC	p.R154C	rs374572934	OGG1		SNV	T:0		1				ENST00000302036	protein_coding	getma.org/?cm=var&var=hg19,3,9793528,C,T&fts=all		Gene3D:1.10.340.30,Pfam_domain:PF00730,hmmpanther:PTHR10242,hmmpanther:PTHR10242:SF2,SMART_domains:SM00478,Superfamily_domains:SSF48150,TIGRFAM_domain:TIGR00588		R/C	T:0.0001	T	medium	803/1744	4.50E-05	getma.org/?cm=msa&ty=f&p=OGG1_HUMAN&rb=142&re=301&var=R154C	deleterious(0)	E5KPN1_HUMAN				OGG1,missense_variant,p.Arg154Cys,ENST00000302036,NM_016821.2;OGG1,missense_variant,p.Arg154Cys,ENST00000302008,NM_016828.2;OGG1,missense_variant,p.Arg154Cys,ENST00000349503,NM_016826.2;OGG1,missense_variant,p.Arg154Cys,ENST00000449570,NM_016829.2;OGG1,missense_variant,p.Arg154Cys,ENST00000339511,NM_016819.3;OGG1,missense_variant,p.Arg154Cys,ENST00000344629,;OGG1,missense_variant,p.Arg154Cys,ENST00000302003,NM_016820.3,NM_002542.5;OGG1,missense_variant,p.Arg60Cys,ENST00000352937,;OGG1,missense_variant,p.Arg154Cys,ENST00000383826,NM_016827.2;OGG1,missense_variant,p.Arg64Cys,ENST00000426518,;OGG1,missense_variant,p.Arg52Cys,ENST00000441094,;BRPF1,downstream_gene_variant,,ENST00000383829,NM_001003694.1;BRPF1,downstream_gene_variant,,ENST00000424362,;BRPF1,downstream_gene_variant,,ENST00000302054,NM_004634.2;BRPF1,downstream_gene_variant,,ENST00000457855,;BRPF1,downstream_gene_variant,,ENST00000433861,;OGG1,upstream_gene_variant,,ENST00000416333,;OGG1,downstream_gene_variant,,ENST00000436092,;OGG1,upstream_gene_variant,,ENST00000383825,;OGG1,missense_variant,p.Arg132Cys,ENST00000429146,;OGG1,non_coding_transcript_exon_variant,,ENST00000432857,;OGG1,intron_variant,,ENST00000425665,;BRPF1,downstream_gene_variant,,ENST00000497565,;							MODERATE	460/1038	R154C	OGG1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000342851	2.47E-05	CCDS2581.1			1	
ZSCAN12	0	LGGM	GRCh37	6	28360721	28360721	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	52	22	.	.	ENST00000361028.1:c.505C>T	p.Pro169Ser	p.P169S	ENST00000361028		169	Cca/Tca	0	1	1	UPI000013C353	0	NA	ENST00000361028		ENSG00000158691	13172		74	0.55		HGNC	p.P169S		ZSCAN12		SNV							ENST00000396827	protein_coding	getma.org/?cm=var&var=hg19,6,28360721,G,A&fts=all		hmmpanther:PTHR23226:SF19,hmmpanther:PTHR23226		P/S		A	neutral	651/5495		getma.org/?cm=msa&ty=f&p=ZSC12_HUMAN&rb=136&re=287&var=P169S	tolerated(0.4)				YES	ZSCAN12,missense_variant,p.Pro169Ser,ENST00000361028,;ZSCAN12,missense_variant,p.Pro169Ser,ENST00000396827,;							MODERATE	505/1815	P169S	ZSC12_HUMAN			Transcript		benign(0.01)	.	ENSP00000354305					1	
C6orf211	0	LGGM	GRCh37	6	151789746	151789746	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	50	22	.	.	ENST00000367294.3:c.827C>T	p.Thr276Ile	p.T276I	ENST00000367294	NM_024573.1	276	aCt/aTt	0	1	1	UPI00000708C7	0	getma.org/pdb.php?prot=CF211_HUMAN&from=20&to=419&var=T276I	ENST00000367294		ENSG00000146476	17872		72	3.035		HGNC	p.T157I		C6orf211		SNV							ENST00000545879	protein_coding	getma.org/?cm=var&var=hg19,6,151789746,C,T&fts=all		hmmpanther:PTHR12260,hmmpanther:PTHR12260:SF1,Pfam_domain:PF01937,Superfamily_domains:SSF111321		T/I		T	medium	1086/2576		getma.org/?cm=msa&ty=f&p=CF211_HUMAN&rb=20&re=419&var=T276I	tolerated(0.09)	F5GZY1_HUMAN			YES	C6orf211,missense_variant,p.Thr276Ile,ENST00000367294,NM_024573.1;C6orf211,missense_variant,p.Thr157Ile,ENST00000545879,NM_001286562.1;C6orf211,downstream_gene_variant,,ENST00000483931,;C6orf211,downstream_gene_variant,,ENST00000494826,;							MODERATE	827/1326	T276I	CF211_HUMAN			Transcript		benign(0.285)	.	ENSP00000356263		CCDS5233.1			1	
FAM212B	0	LGGM	GRCh37	1	112269720	112269720	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	42	23	.	.	ENST00000357260.5:c.764A>T	p.Lys255Met	p.K255M	ENST00000357260	NM_019099.4	255	aAg/aTg	0	1	1	UPI0000072CD1	0	NA	ENST00000357260		ENSG00000197852	28045		65	1.04		HGNC	p.K255M		FAM212B		SNV							ENST00000357260	protein_coding	getma.org/?cm=var&var=hg19,1,112269720,T,A&fts=all				K/M		A	low	946/5980		getma.org/?cm=msa&ty=f&p=F212B_HUMAN&rb=201&re=297&var=K255M	deleterious(0)				YES	FAM212B,missense_variant,p.Lys255Met,ENST00000357260,NM_019099.4;FAM212B,missense_variant,p.Lys240Met,ENST00000444059,NM_198926.2;FAM212B,intron_variant,,ENST00000534365,;FAM212B,downstream_gene_variant,,ENST00000527621,;FAM212B,intron_variant,,ENST00000527570,;							MODERATE	764/894	K255M	F212B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349805		CCDS841.1			1	
MYH15	0	LGGM	GRCh37	3	108204025	108204025	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	59	23	.	.	ENST00000273353.3:c.1087A>G	p.Lys363Glu	p.K363E	ENST00000273353	NM_014981.1	363	Aaa/Gaa	0	1	1	UPI0000253B6F	0	getma.org/pdb.php?prot=MYH15_HUMAN&from=105&to=778&var=K363E	ENST00000273353		ENSG00000144821	31073		82	2.84		HGNC	p.K363E		MYH15		SNV							ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108204025,T,C&fts=all		Pfam_domain:PF00063,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540		K/E		C	medium	1144/7074		getma.org/?cm=msa&ty=f&p=MYH15_HUMAN&rb=105&re=778&var=K363E	deleterious(0)	H9XFA0_HUMAN			YES	MYH15,missense_variant,p.Lys363Glu,ENST00000273353,NM_014981.1;							MODERATE	1087/5841	K363E	MYH15_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000273353		CCDS43127.1			1	
ZNF121	0	LGGM	GRCh37	19	9677033	9677033	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	23	23	.	.	ENST00000320451.6:c.756G>A	p.Glu252=	p.E252=	ENST00000320451	NM_001008727.2	252	gaG/gaA	0	1	1	UPI0000203287	0		ENST00000320451		ENSG00000197961	12904		46			HGNC	p.E252E		ZNF121		SNV							ENST00000586602	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF119,Superfamily_domains:SSF57667		E		T		988/1563				K7EQI1_HUMAN			YES	ZNF121,synonymous_variant,p.=,ENST00000586602,;ZNF121,synonymous_variant,p.=,ENST00000320451,NM_001008727.2;ZNF121,downstream_gene_variant,,ENST00000591447,;ZNF121,upstream_gene_variant,,ENST00000590933,;							LOW	756/1173		ZN121_HUMAN			Transcript			.	ENSP00000326967		CCDS32902.1			1	
THADA	0	LGGM	GRCh37	2	43814071	43814071	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	64	24	.	.	ENST00000405006.4:c.373G>A	p.Glu125Lys	p.E125K	ENST00000405006	NM_001083953.1	125	Gaa/Aaa	0	1	1	UPI00001C0473	0	NA	ENST00000405006		ENSG00000115970	19217		88	1.59		HGNC	p.E125K		THADA		SNV							ENST00000474159	protein_coding	getma.org/?cm=var&var=hg19,2,43814071,C,T&fts=all		hmmpanther:PTHR14387:SF0,hmmpanther:PTHR14387		E/K		T	low	725/6310		getma.org/?cm=msa&ty=f&p=THADA_HUMAN&rb=1&re=200&var=E125K	tolerated(0.18)	Q6YHU4_HUMAN			YES	THADA,missense_variant,p.Glu125Lys,ENST00000403856,;THADA,missense_variant,p.Glu125Lys,ENST00000405006,NM_001083953.1;THADA,missense_variant,p.Glu125Lys,ENST00000405975,NM_022065.4;THADA,missense_variant,p.Glu125Lys,ENST00000404790,NM_001271644.1;THADA,missense_variant,p.Glu125Lys,ENST00000402360,NM_001271643.1;THADA,5_prime_UTR_variant,,ENST00000415080,;THADA,missense_variant,p.Glu125Lys,ENST00000398653,;THADA,missense_variant,p.Glu125Lys,ENST00000408045,;THADA,missense_variant,p.Glu125Lys,ENST00000474159,;							MODERATE	373/5862	E125K	THADA_HUMAN			Transcript		benign(0.341)	.	ENSP00000385995		CCDS46268.1			1	
AIM1	0	LGGM	GRCh37	6	106968147	106968147	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	65	26	.	.	ENST00000369066.3:c.1840G>A	p.Ala614Thr	p.A614T	ENST00000369066	NM_001624.2	614	Gcg/Acg	0	1	1	UPI000013C91D	0	NA	ENST00000369066		ENSG00000112297	356		91	1.245		HGNC	p.A614T	rs530698683	AIM1	0.000424	SNV							ENST00000369066	protein_coding	getma.org/?cm=var&var=hg19,6,106968147,G,A&fts=all	A:0	hmmpanther:PTHR11818,hmmpanther:PTHR11818:SF2		A/T		A	low	2327/7544		getma.org/?cm=msa&ty=f&p=AIM1_HUMAN&rb=1&re=686&var=A614T	tolerated_low_confidence(0.36)	B3KPT0_HUMAN	A:0	A:0	YES	AIM1,missense_variant,p.Ala614Thr,ENST00000369066,NM_001624.2;		A:0.0002					MODERATE	1840/5172	A614T	AIM1_HUMAN	0.000151	A:0	Transcript		benign(0.005)	common_variant	ENSP00000358062	7.41E-05	CCDS34506.1		A:0.001	1	
BCLAF1	0	LGGM	GRCh37	6	136597429	136597429	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	156	27	.	.	ENST00000531224.1:c.1234A>G	p.Arg412Gly	p.R412G	ENST00000531224	NM_001077441.1	412	Agg/Ggg	0	1	1	UPI000006FCE7	0	NA	ENST00000531224		ENSG00000029363	16863		183	1.1		HGNC	p.R412G		BCLAF1		SNV							ENST00000527536	protein_coding	getma.org/?cm=var&var=hg19,6,136597429,T,C&fts=all		Pfam_domain:PF15440,hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF4		R/G		C	low	1487/7263		getma.org/?cm=msa&ty=f&p=BCLF1_HUMAN&rb=1&re=555&var=R412G	tolerated(0.12)	B0AZU3_HUMAN			YES	BCLAF1,missense_variant,p.Arg412Gly,ENST00000531224,NM_001077441.1,NM_014739.2;BCLAF1,missense_variant,p.Arg410Gly,ENST00000353331,NM_001077440.1;BCLAF1,missense_variant,p.Arg412Gly,ENST00000527536,;BCLAF1,missense_variant,p.Arg410Gly,ENST00000527759,;BCLAF1,missense_variant,p.Arg410Gly,ENST00000392348,;BCLAF1,missense_variant,p.Arg412Gly,ENST00000529826,;BCLAF1,intron_variant,,ENST00000530767,;BCLAF1,missense_variant,p.Arg412Gly,ENST00000527613,;BCLAF1,missense_variant,p.Arg412Gly,ENST00000532384,;BCLAF1,missense_variant,p.Arg410Gly,ENST00000530429,;BCLAF1,intron_variant,,ENST00000534269,;BCLAF1,intron_variant,,ENST00000533621,;BCLAF1,upstream_gene_variant,,ENST00000476194,;BCLAF1,downstream_gene_variant,,ENST00000528229,;BCLAF1,upstream_gene_variant,,ENST00000532076,;BCLAF1,upstream_gene_variant,,ENST00000534792,;							MODERATE	1234/2763	R412G	BCLF1_HUMAN			Transcript		benign(0.291)	.	ENSP00000435210		CCDS5177.1			1	
ZNF236	0	LGGM	GRCh37	18	74580735	74580735	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	50	29	.	.	ENST00000253159.8:c.452G>T	p.Arg151Leu	p.R151L	ENST00000253159	NM_007345.3	151	cGg/cTg	0	1	1	UPI0000F6DCCB	0	getma.org/pdb.php?prot=ZN236_HUMAN&from=145&to=152&var=R151L	ENST00000253159		ENSG00000130856	13028		79	2.35		HGNC	p.R151L		ZNF236		SNV							ENST00000253159	protein_coding	getma.org/?cm=var&var=hg19,18,74580735,G,T&fts=all		Gene3D:3.30.160.60,hmmpanther:PTHR24396,hmmpanther:PTHR24396:SF15,Superfamily_domains:SSF57667		R/L		T	medium	650/8124		getma.org/?cm=msa&ty=f&p=ZN236_HUMAN&rb=115&re=182&var=R151L	deleterious(0)				YES	ZNF236,missense_variant,p.Arg151Leu,ENST00000253159,NM_007345.3;ZNF236,missense_variant,p.Arg153Leu,ENST00000320610,;ZNF236,missense_variant,p.Arg151Leu,ENST00000579322,;ZNF236,non_coding_transcript_exon_variant,,ENST00000583095,;ZNF236,missense_variant,p.Arg151Leu,ENST00000543926,;							MODERATE	452/5538	R151L	ZN236_HUMAN			Transcript		benign(0.414)	.	ENSP00000253159		CCDS42447.1			1	
FRAS1	0	LGGM	GRCh37	4	79343080	79343080	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111728	H111728N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	89	29	.	.	ENST00000264895.6:c.4604A>T	p.Asn1535Ile	p.N1535I	ENST00000264895	NM_025074.6	1535	aAc/aTc	0	1	1	UPI000021D4C2	0	NA	ENST00000264895		ENSG00000138759	19185		118	2.485		HGNC	p.N1535I		FRAS1		SNV			1				ENST00000325942	protein_coding	getma.org/?cm=var&var=hg19,4,79343080,A,T&fts=all		hmmpanther:PTHR11878:SF29,hmmpanther:PTHR11878		N/I		T	medium	5044/12479		getma.org/?cm=msa&ty=f&p=FRAS1_HUMAN&rb=1343&re=1542&var=N1534I		Q69YV4_HUMAN,Q4W596_HUMAN			YES	FRAS1,missense_variant,p.Asn1535Ile,ENST00000264895,NM_025074.6;FRAS1,missense_variant,p.Asn1535Ile,ENST00000325942,NM_001166133.1;FRAS1,intron_variant,,ENST00000510944,;							MODERATE	4604/12039	N1534I	FRAS1_HUMAN			Transcript		probably_damaging(0.944)	.	ENSP00000264895		CCDS54771.1			1	
GYS2	0	LGGM	GRCh37	12	21733289	21733289	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	30	30	.	.	ENST00000261195.2:c.290A>T	p.Lys97Met	p.K97M	ENST00000261195	NM_021957.3	97	aAg/aTg	0	1	1	UPI000013D13D	0	getma.org/pdb.php?prot=GYS2_HUMAN&from=32&to=663&var=K97M	ENST00000261195		ENSG00000111713	4707		60	1.15		HGNC	p.K97M		GYS2		SNV			1				ENST00000261195	protein_coding	getma.org/?cm=var&var=hg19,12,21733289,T,A&fts=all		Pfam_domain:PF05693,hmmpanther:PTHR10176,hmmpanther:PTHR10176:SF1,Superfamily_domains:SSF53756		K/M		A	low	545/3132		getma.org/?cm=msa&ty=f&p=GYS2_HUMAN&rb=32&re=663&var=K97M	deleterious(0.02)				YES	GYS2,missense_variant,p.Lys97Met,ENST00000261195,NM_021957.3;							MODERATE	290/2112	K97M	GYS2_HUMAN			Transcript		benign(0.213)	.	ENSP00000261195		CCDS8690.1			1	
NDST3	0	LGGM	GRCh37	4	119161727	119161727	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	29	30	.	.	ENST00000296499.5:c.2167G>A	p.Glu723Lys	p.E723K	ENST00000296499	NM_004784.2	723	Gaa/Aaa	0	1	1	UPI0000071C44	0	getma.org/pdb.php?prot=NDST3_HUMAN&from=595&to=858&var=E723K	ENST00000296499		ENSG00000164100	7682	8.74E-05	59	2.13		HGNC	p.E723K	rs759159756	NDST3	0.000182	SNV							ENST00000296499	protein_coding	getma.org/?cm=var&var=hg19,4,119161727,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00685,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15,Superfamily_domains:SSF52540		E/K		A	medium	2570/5961		getma.org/?cm=msa&ty=f&p=NDST3_HUMAN&rb=595&re=858&var=E723K	deleterious(0.01)				YES	NDST3,missense_variant,p.Glu723Lys,ENST00000296499,NM_004784.2;NDST3,downstream_gene_variant,,ENST00000433996,;							MODERATE	2167/2622	E723K	NDST3_HUMAN			Transcript		benign(0.166)	.	ENSP00000296499	3.29E-05	CCDS3708.1			1	
AMY2B	0	LGGM	GRCh37	1	104118108	104118108	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	210	31	.	.	ENST00000361355.4:c.1047T>A	p.Gly349=	p.G349=	ENST00000361355	NM_020978.4	349	ggT/ggA	0	1	1	UPI0000000CB1	0		ENST00000361355		ENSG00000240038	478		241			HGNC	p.G349G	COSM1244913	AMY2B		SNV						1	ENST00000361355	protein_coding			Gene3D:3.20.20.80,hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF105,SMART_domains:SM00642,Superfamily_domains:SSF51445		G		A		1663/2181				C9JWK7_HUMAN,C9J2Z5_HUMAN			YES	AMY2B,synonymous_variant,p.=,ENST00000361355,NM_020978.4;AMY2B,downstream_gene_variant,,ENST00000453959,;AMY2B,downstream_gene_variant,,ENST00000435302,;AMY2B,non_coding_transcript_exon_variant,,ENST00000491397,;AMY2B,non_coding_transcript_exon_variant,,ENST00000462971,;AMY2B,upstream_gene_variant,,ENST00000481821,;AMY2B,synonymous_variant,p.=,ENST00000477657,;ACTG1P4,downstream_gene_variant,,ENST00000425123,;					1		LOW	1047/1536		AMY2B_HUMAN			Transcript			.	ENSP00000354610		CCDS782.1			1	
CDC7	0	LGGM	GRCh37	1	91977228	91977228	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	45	31	.	.	ENST00000428239.1:c.410T>A	p.Leu137Gln	p.L137Q	ENST00000428239	NM_001134420.1	137	cTg/cAg	0	1		UPI0000127400	0	getma.org/pdb.php?prot=CDC7_HUMAN&from=58&to=224&var=L137Q	ENST00000234626		ENSG00000097046	1745		76	2.245		HGNC	p.L137Q		CDC7		SNV							ENST00000428239	protein_coding	getma.org/?cm=var&var=hg19,1,91977228,T,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR11909,hmmpanther:PTHR11909:SF7,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/Q		A	medium	529/3173		getma.org/?cm=msa&ty=f&p=CDC7_HUMAN&rb=58&re=224&var=L137Q	deleterious(0)	B1AMW7_HUMAN				CDC7,missense_variant,p.Leu137Gln,ENST00000428239,NM_001134420.1;CDC7,missense_variant,p.Leu137Gln,ENST00000234626,NM_001134419.1,NM_003503.3;CDC7,missense_variant,p.Leu109Gln,ENST00000430031,;CDC7,missense_variant,p.Leu137Gln,ENST00000426137,;CDC7,downstream_gene_variant,,ENST00000497611,;CDC7,upstream_gene_variant,,ENST00000486509,;							MODERATE	410/1725	L137Q	CDC7_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000234626		CCDS734.1			1	
MUC16	0	LGGM	GRCh37	19	9060746	9060746	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	56	32	.	.	ENST00000397910.4:c.26700A>T	p.Thr8900=	p.T8900=	ENST00000397910	NM_024690.2	8900	acA/acT	0	1	1	UPI000065CA24	0		ENST00000397910		ENSG00000181143	15582		88			HGNC	p.T8900T		MUC16		SNV							ENST00000397910	protein_coding					T		A		26904/43816				F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,synonymous_variant,p.=,ENST00000397910,NM_024690.2;							LOW	26700/43524					Transcript			.	ENSP00000381008		CCDS54212.1			1	
FSBP	0	LGGM	GRCh37	8	95449096	95449096	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H111728	H111728N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	53	41	.	.	ENST00000481490.2:c.1A>G	p.Met1?	p.M1?	ENST00000481490	NM_001256141.1	1	Atg/Gtg	0	1	1	UPI000006DED8	0		ENST00000481490		ENSG00000265817	43653		94			HGNC	p.M1V		FSBP		SNV							ENST00000481490	protein_coding					M/V		C		75/1158			deleterious(0)				YES	FSBP,start_lost,p.Met1?,ENST00000481490,NM_001256141.1;RAD54B,intron_variant,,ENST00000336148,NM_012415.3;RAD54B,intron_variant,,ENST00000297592,NM_001205262.2;RAD54B,intron_variant,,ENST00000523839,;FSBP,start_lost,p.Met1?,ENST00000517506,;RAD54B,intron_variant,,ENST00000463267,;RAD54B,intron_variant,,ENST00000518998,;							HIGH	1/900		FSBP_HUMAN			Transcript		possibly_damaging(0.678)	.	ENSP00000420405		CCDS59106.1			1	
NOM1	0	LGGM	GRCh37	7	156754923	156754923	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	163	45	.	.	ENST00000275820.3:c.1711G>A	p.Val571Met	p.V571M	ENST00000275820	NM_138400.1	571	Gtg/Atg	0	1	1	UPI000020E71F	0	NA	ENST00000275820		ENSG00000146909	13244		208	2.16		HGNC	p.V571M	rs569215347,COSM3431425	NOM1	0.000303	SNV						0,1	ENST00000275820	protein_coding	getma.org/?cm=var&var=hg19,7,156754923,G,A&fts=all		Gene3D:1.25.40.180,hmmpanther:PTHR18034:SF4,hmmpanther:PTHR18034		V/M		A	medium	1726/6077		getma.org/?cm=msa&ty=f&p=NOM1_HUMAN&rb=560&re=654&var=V571M	deleterious(0.01)				YES	NOM1,missense_variant,p.Val571Met,ENST00000275820,NM_138400.1;NOM1,downstream_gene_variant,,ENST00000460332,;NOM1,non_coding_transcript_exon_variant,,ENST00000469271,;NOM1,non_coding_transcript_exon_variant,,ENST00000475176,;NOM1,non_coding_transcript_exon_variant,,ENST00000472491,;NOM1,non_coding_transcript_exon_variant,,ENST00000489850,;NOM1,upstream_gene_variant,,ENST00000485661,;					0,1		MODERATE	1711/2583	V571M	NOM1_HUMAN			Transcript		benign(0.327)	.	ENSP00000275820	4.12E-05	CCDS34787.1			1	
WDR33	0	LGGM	GRCh37	2	128482510	128482510	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	166	46	.	.	ENST00000322313.4:c.1036C>A	p.Leu346Ile	p.L346I	ENST00000322313	NM_018383.4	346	Ctt/Att	0	1	1	UPI000013D032	0	getma.org/pdb.php?prot=WDR33_HUMAN&from=321&to=360&var=L346I	ENST00000322313		ENSG00000136709	25651		212	0.88		HGNC	p.L346I		WDR33		SNV							ENST00000322313	protein_coding	getma.org/?cm=var&var=hg19,2,128482510,G,T&fts=all		PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR22836,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		L/I		T	low	1195/9471		getma.org/?cm=msa&ty=f&p=WDR33_HUMAN&rb=321&re=360&var=L346I	deleterious(0.04)	C9J8B4_HUMAN,B9A053_HUMAN			YES	WDR33,missense_variant,p.Leu346Ile,ENST00000322313,NM_018383.4;WDR33,downstream_gene_variant,,ENST00000436787,;							MODERATE	1036/4011	L346I	WDR33_HUMAN			Transcript		unknown(0)	.	ENSP00000325377		CCDS2150.1			1	
IGKV1D-16	0	LGGM	GRCh37	2	90139370	90139370	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	117	51	.	.	ENST00000492446.1:c.141G>T	p.Ala47=	p.A47=	ENST00000492446		47	gcG/gcT	0	1	1	UPI0000116772	0		ENST00000492446		ENSG00000241244	5748		168			HGNC	p.A47A		IGKV1D-16		SNV							ENST00000492446	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267:SF122,hmmpanther:PTHR23267,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		T		168/378							YES	IGKV1D-16,synonymous_variant,p.=,ENST00000492446,;AC073416.1,upstream_gene_variant,,ENST00000323194,;							LOW	141/351					Transcript			.	ENSP00000418200					1	
PRKG2	0	LGGM	GRCh37	4	82063993	82063993	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111728	H111728N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	150	66	.	.	ENST00000395578.1:c.1362G>A	p.Glu454=	p.E454=	ENST00000395578		454	gaG/gaA	0	1		UPI000012DDC6	0		ENST00000264399		ENSG00000138669	9416		216			HGNC	p.E454E		PRKG2		SNV							ENST00000395578	protein_coding			Superfamily_domains:SSF56112,PIRSF_domain:PIRSF000559,SMART_domains:SM00220,Pfam_domain:PF00069,Gene3D:3.30.200.20,hmmpanther:PTHR24353:SF24,hmmpanther:PTHR24353,PROSITE_profiles:PS50011		E		T		1376/3328				B7ZA25_HUMAN				PRKG2,synonymous_variant,p.=,ENST00000395578,;PRKG2,synonymous_variant,p.=,ENST00000264399,NM_006259.1;PRKG2,synonymous_variant,p.=,ENST00000545647,;PRKG2,intron_variant,,ENST00000418486,NM_001282485.1;PRKG2,non_coding_transcript_exon_variant,,ENST00000509169,;PRKG2,non_coding_transcript_exon_variant,,ENST00000509474,;PRKG2,intron_variant,,ENST00000456882,;							LOW	1362/2289		KGP2_HUMAN			Transcript			.	ENSP00000264399		CCDS3589.1			1	
PCLO	0	LGGM	GRCh37	7	82546070	82546070	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111728	H111728N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111728N.bam, H111728T.bam	Illumina HiSeq	143	88	.	.	ENST00000333891.9:c.11232C>A	p.Gly3744=	p.G3744=	ENST00000333891	NM_033026.5	3744	ggC/ggA	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		231			HGNC	p.G464G		PCLO		SNV			1				ENST00000437081	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		G		T		11570/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,synonymous_variant,p.=,ENST00000437081,;							LOW	11232/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
C21orf59	0	LGGM	GRCh37	21	33982291	33982291	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	12	3	.	.	ENST00000290155.3:c.164G>A	p.Gly55Asp	p.G55D	ENST00000290155	NM_021254.2	55	gGc/gAc	0	1	1	UPI00001286B0	0	NA	ENST00000290155		ENSG00000159079	1301		15	3.43		HGNC	p.G55D		C21orf59		SNV			1				ENST00000440966	protein_coding	getma.org/?cm=var&var=hg19,21,33982291,C,T&fts=all		hmmpanther:PTHR13238		G/D		T	medium	787/1692		getma.org/?cm=msa&ty=f&p=CU059_HUMAN&rb=1&re=187&var=G55D	deleterious(0)	G8XV63_HUMAN			YES	C21orf59,missense_variant,p.Gly55Asp,ENST00000382549,;C21orf59,missense_variant,p.Gly55Asp,ENST00000290155,NM_021254.2;C21orf59,missense_variant,p.Gly55Asp,ENST00000440966,;AP000275.65,missense_variant,p.Gly55Asp,ENST00000553001,;AP000275.65,missense_variant,p.Gly23Asp,ENST00000431216,;C21orf59,intron_variant,,ENST00000540881,;C21orf59,intron_variant,,ENST00000458138,;C21orf59,missense_variant,p.Gly55Asp,ENST00000300260,;							MODERATE	164/873	G55D	CU059_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000290155		CCDS13617.1			1	
CHD1	0	LGGM	GRCh37	5	98192216	98192216	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	23	3	.	.	ENST00000284049.3:c.5001C>A	p.Asp1667Glu	p.D1667E	ENST00000284049	NM_001270.2	1667	gaC/gaA	0	1	1	UPI000013DD75	0	NA	ENST00000284049		ENSG00000153922	1915		26	0.425		HGNC	p.D1667E		CHD1		SNV							ENST00000284049	protein_coding	getma.org/?cm=var&var=hg19,5,98192216,G,T&fts=all				D/E		T	neutral	5151/5918		getma.org/?cm=msa&ty=f&p=CHD1_HUMAN&rb=1501&re=1708&var=D1667E	tolerated_low_confidence(0.44)				YES	CHD1,missense_variant,p.Asp1667Glu,ENST00000284049,NM_001270.2;CHD1,3_prime_UTR_variant,,ENST00000512844,;CHD1,non_coding_transcript_exon_variant,,ENST00000514344,;CHD1,non_coding_transcript_exon_variant,,ENST00000512392,;CHD1,non_coding_transcript_exon_variant,,ENST00000513064,;CHD1,downstream_gene_variant,,ENST00000505657,;							MODERATE	5001/5133	D1667E	CHD1_HUMAN			Transcript		benign(0.017)	.	ENSP00000284049		CCDS34204.1			1	
GCN1L1	0	LGGM	GRCh37	12	120591081	120591081	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	15	3	.	.	ENST00000300648.6:c.3998G>T	p.Ser1333Ile	p.S1333I	ENST00000300648	NM_006836.1	1333	aGt/aTt	0	1	1	UPI00001FBC69	0	NA	ENST00000300648		ENSG00000089154	4199		18	1.965		HGNC	p.S1333I		GCN1L1		SNV							ENST00000300648	protein_coding	getma.org/?cm=var&var=hg19,12,120591081,C,A&fts=all		Superfamily_domains:SSF48371,Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		S/I		A	medium	4011/8675		getma.org/?cm=msa&ty=f&p=GCN1L_HUMAN&rb=1308&re=1507&var=S1333I		B4DM32_HUMAN			YES	GCN1L1,missense_variant,p.Ser1333Ile,ENST00000300648,NM_006836.1;MIR4498,downstream_gene_variant,,ENST00000577599,;GCN1L1,downstream_gene_variant,,ENST00000547369,;GCN1L1,downstream_gene_variant,,ENST00000551920,;GCN1L1,downstream_gene_variant,,ENST00000548132,;							MODERATE	3998/8016	S1333I	GCN1L_HUMAN			Transcript		possibly_damaging(0.451)	.	ENSP00000300648		CCDS41847.1			1	
IFNA1	0	LGGM	GRCh37	9	21440575	21440575	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	43	3	.	.	ENST00000276927.1:c.69C>A	p.Gly23=	p.G23=	ENST00000276927	NM_024013.2	23	ggC/ggA	0	1	1	UPI000002C6D3	0		ENST00000276927		ENSG00000197919	5417		46			HGNC	p.G23G		IFNA1		SNV							ENST00000276927	protein_coding			Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF30		G		A		136/876				L0N195_HUMAN			YES	IFNA1,synonymous_variant,p.=,ENST00000276927,NM_024013.2;							LOW	69/570		IFNA1_HUMAN			Transcript			.	ENSP00000276927		CCDS6508.1			1	
BX088651.1	0	LGGM	GRCh37	9	44402025	44402025	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	12	3	.	.	ENST00000540551.1:c.231G>T	p.Arg77=	p.R77=	ENST00000540551		77	cgG/cgT	0	1	1	UPI00005DC70B	0		ENST00000540551		ENSG00000212952			15			Clone_based_ensembl_gene	p.R77R		BX088651.1		SNV							ENST00000540551	protein_coding					R		A		403/1711				Q32P50_HUMAN			YES	BX088651.1,synonymous_variant,p.=,ENST00000540551,;RP11-475I24.3,non_coding_transcript_exon_variant,,ENST00000435586,;RP11-475I24.3,non_coding_transcript_exon_variant,,ENST00000428895,;RP11-475I24.3,upstream_gene_variant,,ENST00000425309,;							LOW	231/366					Transcript			.	ENSP00000469774					1	
MOV10	0	LGGM	GRCh37	1	113239414	113239414	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	5	3	.	.	ENST00000413052.2:c.2144A>C	p.Lys715Thr	p.K715T	ENST00000413052	NM_001130079.1	715	aAg/aCg	0	1		UPI000012FA84	0	getma.org/pdb.php?prot=MOV10_HUMAN&from=698&to=923&var=K715T	ENST00000357443		ENSG00000155363	7200		8	1.86		HGNC	p.K715T		MOV10		SNV							ENST00000413052	protein_coding	getma.org/?cm=var&var=hg19,1,113239414,A,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326,Superfamily_domains:SSF52540		K/T		C	low	2312/3383		getma.org/?cm=msa&ty=f&p=MOV10_HUMAN&rb=698&re=923&var=K715T	deleterious(0)	Q5JR04_HUMAN,B3KQ43_HUMAN				MOV10,missense_variant,p.Lys659Thr,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Lys715Thr,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,missense_variant,p.Lys715Thr,ENST00000369645,;MOV10,missense_variant,p.Lys715Thr,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,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,non_coding_transcript_exon_variant,,ENST00000488160,;MOV10,upstream_gene_variant,,ENST00000490413,;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,;							MODERATE	2144/3012	K715T	MOV10_HUMAN			Transcript		possibly_damaging(0.64)	.	ENSP00000350028		CCDS853.1			1	
HYDIN	0	LGGM	GRCh37	16	70942690	70942690	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	21	3	.	.	ENST00000393567.2:c.8079G>T	p.Glu2693Asp	p.E2693D	ENST00000393567	NM_001270974.1	2693	gaG/gaT	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		24	1.155		HGNC	p.E2692D	rs371638619	HYDIN		SNV	T:0		1				ENST00000316490	protein_coding	getma.org/?cm=var&var=hg19,16,70942690,C,A&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		E/D	T:0.0001	A	low	8230/15719	1.50E-05	getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=2561&re=2723&var=E2693D		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Glu2693Asp,ENST00000393567,NM_001270974.1;HYDIN,non_coding_transcript_exon_variant,,ENST00000309900,;							MODERATE	8079/15366	E2693D	HYDIN_HUMAN			Transcript		benign(0)	.	ENSP00000377197	8.28E-06	CCDS59269.1			1	
CRIM1	0	LGGM	GRCh37	2	36668477	36668477	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	44	3	.	.	ENST00000280527.2:c.582C>A	p.Ile194=	p.I194=	ENST00000280527	NM_016441.2	194	atC/atA	0	1	1	UPI000004C628	0		ENST00000280527		ENSG00000150938	2359		47			HGNC	p.I86I		CRIM1		SNV							ENST00000426856	protein_coding					I		A		949/5912				Q53TR0_HUMAN,Q53TH9_HUMAN,Q4ZG85_HUMAN,B4DUW0_HUMAN			YES	CRIM1,synonymous_variant,p.=,ENST00000280527,NM_016441.2;CRIM1,synonymous_variant,p.=,ENST00000426856,;							LOW	582/3111		CRIM1_HUMAN			Transcript			.	ENSP00000280527		CCDS1783.1			1	
LOXHD1	0	LGGM	GRCh37	18	44221948	44221948	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	40	3	.	.	ENST00000441551.2:c.297C>A	p.Thr99=	p.T99=	ENST00000441551		99	acC/acA	0	1	1	UPI0001A595CE	0		ENST00000536736		ENSG00000167210	26521		43			HGNC	p.T99T		LOXHD1		SNV			1				ENST00000441551	protein_coding			PROSITE_profiles:PS50095,Gene3D:2.60.60.20,Pfam_domain:PF01477,SMART_domains:SM00308,Superfamily_domains:SSF49723		T		T		297/6848				J3KRE7_HUMAN,F5GZB4_HUMAN,C9J269_HUMAN,C9IYQ1_HUMAN				LOXHD1,synonymous_variant,p.=,ENST00000536736,NM_144612.6;LOXHD1,synonymous_variant,p.=,ENST00000441551,;							LOW	297/6636					Transcript			.	ENSP00000444586					1	
FSCB	0	LGGM	GRCh37	14	44974154	44974155	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	novel	by Submitter	H111889	H111889N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	5	4	.	.	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro	p.P679_A680insSEVQPPPAEEAP	ENST00000340446	NM_032135.3	679	cct/ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	0	1	1	UPI00001FD466	0		ENST00000340446		ENSG00000189139	20494		9			HGNC	p.P679delinsPSEVQPPPAEEAP	rs375198387	FSCB		insertion	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.3937						ENST00000340446	protein_coding			Low_complexity_(Seg):seg		P/PSEVQPPPAEEAP	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG:0.4663	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG		2328-2329/2938							YES	FSCB,inframe_insertion,p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAlaPro,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,;							MODERATE	2036-2037/2478		FSCB_HUMAN			Transcript			.	ENSP00000344579		CCDS9679.1			1	
NKPD1	0	LGGM	GRCh37	19	45655296	45655296	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	4	4	.	.	ENST00000317951.4:c.2399G>T	p.Gly800Val	p.G800V	ENST00000317951	NM_198478.3	800	gGc/gTc	0	1		UPI0000DA58DB	0	NA	ENST00000438936		ENSG00000179846	24739		8	0		HGNC	p.G578V		NKPD1		SNV							ENST00000589776	protein_coding	getma.org/?cm=var&var=hg19,19,45655296,C,A&fts=all		hmmpanther:PTHR22674:SF4,hmmpanther:PTHR22674		G/V		A	neutral	1945/2080		getma.org/?cm=msa&ty=f&p=NKPD1_HUMAN&rb=415&re=610&var=G578V	tolerated_low_confidence(0.28)					NKPD1,missense_variant,p.Gly800Val,ENST00000317951,NM_198478.3;NKPD1,missense_variant,p.Gly578Val,ENST00000438936,;NKPD1,missense_variant,p.Gly578Val,ENST00000589776,;NKPD1,missense_variant,p.Gly499Val,ENST00000429338,;MARK4,intron_variant,,ENST00000587566,;PPP1R37,downstream_gene_variant,,ENST00000221462,NM_019121.1;AC005757.7,upstream_gene_variant,,ENST00000589594,;PPP1R37,downstream_gene_variant,,ENST00000422370,;PPP1R37,downstream_gene_variant,,ENST00000540059,;							MODERATE	1733/1833	G578V	NKPD1_HUMAN			Transcript		benign(0.035)	.	ENSP00000401739					1	
FFAR4	0	LGGM	GRCh37	10	95347090	95347090	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	47	4	.	.	ENST00000371483.4:c.858G>A	p.Met286Ile	p.M286I	ENST00000371483	NM_181745.3	286	atG/atA	0	1	1	UPI00001C1EE5	0	getma.org/pdb.php?prot=O3FA1_HUMAN&from=57&to=337&var=M286I	ENST00000371483		ENSG00000186188	19061		51	0.675		HGNC	p.M286I		FFAR4		SNV			1				ENST00000371483	protein_coding	getma.org/?cm=var&var=hg19,10,95347090,G,A&fts=all		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		M/I		A	neutral	914/3653		getma.org/?cm=msa&ty=f&p=O3FA1_HUMAN&rb=57&re=337&var=M286I	deleterious(0.01)				YES	FFAR4,missense_variant,p.Met286Ile,ENST00000371483,NM_181745.3;FFAR4,missense_variant,p.Met270Ile,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,;							MODERATE	858/1134	M286I	FFAR4_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000360538		CCDS31248.1			1	
DPP6	0	LGGM	GRCh37	7	154684165	154684165	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	91	4	.	.	ENST00000377770.3:c.2573C>A	p.Ala858Glu	p.A858E	ENST00000377770		858	gCg/gAg	0	1	1	UPI00001AE746	0	getma.org/pdb.php?prot=DPP6_HUMAN&from=851&to=865&var=A858E	ENST00000377770		ENSG00000130226	3010		95	0.895		HGNC	p.A858E		DPP6		SNV			1				ENST00000377770	protein_coding	getma.org/?cm=var&var=hg19,7,154684165,C,A&fts=all				A/E		A	low	2714/3710		getma.org/?cm=msa&ty=f&p=DPP6_HUMAN&rb=821&re=865&var=A858E	tolerated(0.83)	Q75MI8_HUMAN,Q75MI7_HUMAN,Q75MF0_HUMAN			YES	DPP6,missense_variant,p.Ala794Glu,ENST00000404039,NM_130797.2,NM_001936.3,NM_001039350.1;DPP6,missense_variant,p.Ala796Glu,ENST00000332007,;DPP6,missense_variant,p.Ala858Glu,ENST00000377770,;DPP6,missense_variant,p.Ala751Glu,ENST00000427557,;DPP6,downstream_gene_variant,,ENST00000480367,;							MODERATE	2573/2598	A858E	DPP6_HUMAN			Transcript		benign(0.079)	.	ENSP00000367001					1	
TENM2	0	LGGM	GRCh37	5	167551857	167551857	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	11	5	.	.	ENST00000518659.1:c.2011G>C	p.Asp671His	p.D671H	ENST00000518659	NM_001122679.1	671	Gat/Cat	0	1	1	UPI0001C48FC2	0	NA	ENST00000518659		ENSG00000145934	29943		16	2.92		HGNC	p.D439H		TENM2		SNV							ENST00000520394	protein_coding	getma.org/?cm=var&var=hg19,5,167551857,G,C&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,SMART_domains:SM00179,SMART_domains:SM00181		D/H		C	medium	2050/8550		getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=669&re=701&var=D671H	deleterious(0)	G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,missense_variant,p.Asp550His,ENST00000519204,;TENM2,missense_variant,p.Asp504His,ENST00000403607,;TENM2,missense_variant,p.Asp671His,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Asp671His,ENST00000545108,;TENM2,missense_variant,p.Asp439His,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;							MODERATE	2011/8325	D671H	TEN2_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000429430					1	
KIAA1958	0	LGGM	GRCh37	9	115381173	115381173	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	17	5	.	.	ENST00000337530.6:c.1172-26757G>A		*391*	ENST00000337530	NM_001287038.1			0	1	1	UPI000007327E	0		ENST00000337530		ENSG00000165185	23427		22			HGNC	p.D732N		KIAA1958		SNV							ENST00000374244	protein_coding							A		-/11775							YES	KIAA1958,missense_variant,p.Asp732Asn,ENST00000374244,;KIAA1958,intron_variant,,ENST00000337530,NM_001287038.1,NM_133465.3;KIAA1958,intron_variant,,ENST00000536272,NM_001287036.1;							MODIFIER	-/2151		K1958_HUMAN			Transcript			.	ENSP00000336940		CCDS35108.1			1	
ZMYND10	0	LGGM	GRCh37	3	50380022	50380022	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	12	6	.	.	ENST00000231749.3:c.701-22G>T		*234*	ENST00000231749	NM_015896.2			0	1	1	UPI0000126A0E	0		ENST00000231749		ENSG00000004838	19412		18			HGNC	p.V222L		ZMYND10		SNV			1				ENST00000360165	protein_coding							A		-/2896				C9JUQ8_HUMAN			YES	ZMYND10,missense_variant,p.Val222Leu,ENST00000360165,;ZMYND10,intron_variant,,ENST00000231749,NM_015896.2;ZMYND10,intron_variant,,ENST00000442887,;RASSF1,upstream_gene_variant,,ENST00000359365,NM_170714.1,NM_001206957.1,NM_007182.4;RASSF1,upstream_gene_variant,,ENST00000357043,;NPRL2,downstream_gene_variant,,ENST00000232501,NM_006545.4;RASSF1,upstream_gene_variant,,ENST00000395126,NM_170712.2;ZMYND10-AS1,intron_variant,,ENST00000440013,;RASSF1,upstream_gene_variant,,ENST00000488024,;ZMYND10,upstream_gene_variant,,ENST00000490675,;NPRL2,downstream_gene_variant,,ENST00000493465,;ZMYND10,downstream_gene_variant,,ENST00000468182,;ZMYND10,non_coding_transcript_exon_variant,,ENST00000475688,;ZMYND10,intron_variant,,ENST00000443080,;NPRL2,downstream_gene_variant,,ENST00000467294,;NPRL2,downstream_gene_variant,,ENST00000480296,;NPRL2,downstream_gene_variant,,ENST00000461020,;RASSF1,upstream_gene_variant,,ENST00000478619,;NPRL2,downstream_gene_variant,,ENST00000487632,;NPRL2,downstream_gene_variant,,ENST00000479512,;NPRL2,downstream_gene_variant,,ENST00000451194,;RASSF1,upstream_gene_variant,,ENST00000395117,;RASSF1,upstream_gene_variant,,ENST00000482447,;NPRL2,downstream_gene_variant,,ENST00000476064,;NPRL2,downstream_gene_variant,,ENST00000433381,;NPRL2,downstream_gene_variant,,ENST00000429366,;RASSF1,upstream_gene_variant,,ENST00000494145,;ZMYND10,downstream_gene_variant,,ENST00000478269,;ZMYND10,downstream_gene_variant,,ENST00000431869,;							MODIFIER	-/1323		ZMY10_HUMAN			Transcript			.	ENSP00000231749		CCDS2825.1			1	
SLC20A1	0	LGGM	GRCh37	2	113404516	113404516	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	7	6	.	.	ENST00000272542.3:c.111C>T	p.Phe37=	p.F37=	ENST00000272542	NM_005415.4	37	ttC/ttT	0	1	1	UPI0000071362	0		ENST00000272542		ENSG00000144136	10946		13			HGNC	p.F37F		SLC20A1		SNV							ENST00000272542	protein_coding			hmmpanther:PTHR11101,hmmpanther:PTHR11101:SF46,Transmembrane_helices:TMhelix		F		T		650/3381				A7LNJ1_HUMAN			YES	SLC20A1,synonymous_variant,p.=,ENST00000272542,NM_005415.4;SLC20A1,upstream_gene_variant,,ENST00000423633,;SLC20A1,upstream_gene_variant,,ENST00000433924,;AC079922.3,upstream_gene_variant,,ENST00000457336,;SLC20A1,upstream_gene_variant,,ENST00000498224,;SLC20A1,upstream_gene_variant,,ENST00000413135,;SLC20A1,upstream_gene_variant,,ENST00000456264,;							LOW	111/2040		S20A1_HUMAN			Transcript			.	ENSP00000272542		CCDS2099.1			1	
THADA	0	LGGM	GRCh37	2	43793681	43793681	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	23	6	.	.	ENST00000405006.4:c.2311+156A>G		*771*	ENST00000405006	NM_001083953.1			0	1	1	UPI00001C0473	0		ENST00000405006		ENSG00000115970	19217		29			HGNC	p.S823G		THADA		SNV							ENST00000403856	protein_coding							C		-/6310				Q6YHU4_HUMAN			YES	THADA,missense_variant,p.Ser823Gly,ENST00000403856,;THADA,intron_variant,,ENST00000405006,NM_001083953.1;THADA,intron_variant,,ENST00000405975,NM_022065.4;THADA,intron_variant,,ENST00000415080,;THADA,intron_variant,,ENST00000407351,;THADA,intron_variant,,ENST00000330266,;THADA,intron_variant,,ENST00000404790,NM_001271644.1;THADA,intron_variant,,ENST00000402360,NM_001271643.1;THADA,intron_variant,,ENST00000398653,;THADA,intron_variant,,ENST00000408045,;THADA,intron_variant,,ENST00000402796,;THADA,intron_variant,,ENST00000474159,;							MODIFIER	-/5862		THADA_HUMAN			Transcript			.	ENSP00000385995		CCDS46268.1			1	
AIFM2	0	LGGM	GRCh37	10	71874769	71874769	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	7	6	.	.	ENST00000307864.1:c.877A>G	p.Lys293Glu	p.K293E	ENST00000307864	NM_032797.5	293	Aag/Gag	0	1	1	UPI000003F07F	0	NA	ENST00000307864		ENSG00000042286	21411		13	2.38		HGNC	p.K293E		AIFM2		SNV							ENST00000307864	protein_coding	getma.org/?cm=var&var=hg19,10,71874769,T,C&fts=all		hmmpanther:PTHR22915:SF5,hmmpanther:PTHR22915,Gene3D:3.50.50.60,Superfamily_domains:SSF51905,Prints_domain:PR00469		K/E		C	medium	1091/3240		getma.org/?cm=msa&ty=f&p=AIFM2_HUMAN&rb=292&re=373&var=K293E	deleterious(0.03)				YES	AIFM2,missense_variant,p.Lys293Glu,ENST00000307864,NM_032797.5,NM_001198696.1;AIFM2,missense_variant,p.Lys293Glu,ENST00000373248,;H2AFY2,downstream_gene_variant,,ENST00000373255,NM_018649.2;AIFM2,non_coding_transcript_exon_variant,,ENST00000482166,;							MODERATE	877/1122	K293E	AIFM2_HUMAN			Transcript		benign(0.327)	.	ENSP00000312370		CCDS7297.1			1	
C2CD3	0	LGGM	GRCh37	11	73825628	73825628	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	17	6	.	.	ENST00000313663.7:c.1531G>A	p.Glu511Lys	p.E511K	ENST00000313663	NM_015531.4	511	Gaa/Aaa	0	1		UPI0001AE6C29	0	NA	ENST00000334126		ENSG00000168014	24564		23	1.39		HGNC	p.E511K		C2CD3		SNV			1				ENST00000334126	protein_coding	getma.org/?cm=var&var=hg19,11,73825628,C,T&fts=all		hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1		E/K		T	low	1758/7289		getma.org/?cm=msa&ty=f&p=C2CD3_HUMAN&rb=401&re=600&var=E511K	tolerated(0.35)					C2CD3,missense_variant,p.Glu511Lys,ENST00000334126,NM_001286577.1;C2CD3,missense_variant,p.Glu511Lys,ENST00000313663,NM_015531.4;C2CD3,upstream_gene_variant,,ENST00000537285,;C2CD3,non_coding_transcript_exon_variant,,ENST00000415191,;							MODERATE	1531/7062	E511K	C2CD3_HUMAN			Transcript		benign(0.284)	.	ENSP00000334379		CCDS66167.1			1	
SRGAP1	0	LGGM	GRCh37	12	64456744	64456744	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	21	7	.	.	ENST00000355086.3:c.849A>C	p.Thr283=	p.T283=	ENST00000355086	NM_020762.2	283	acA/acC	0	1	1	UPI00001A9CB9	0		ENST00000355086		ENSG00000196935	17382		28			HGNC	p.T283T		SRGAP1		SNV							ENST00000357825	protein_coding			hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Superfamily_domains:SSF103657		T		C		1373/8943							YES	SRGAP1,synonymous_variant,p.=,ENST00000355086,NM_020762.2;SRGAP1,synonymous_variant,p.=,ENST00000357825,;SRGAP1,synonymous_variant,p.=,ENST00000543397,;RP11-196H14.2,intron_variant,,ENST00000535594,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537556,;							LOW	849/3258		SRGP1_HUMAN			Transcript			.	ENSP00000347198		CCDS8967.1			1	
VWDE	0	LGGM	GRCh37	7	12382736	12382736	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	14	7	.	.	ENST00000275358.3:c.4147G>A	p.Gly1383Ser	p.G1383S	ENST00000275358	NM_001135924.1	1383	Ggt/Agt	0	1	1	UPI00006C0B98	0	getma.org/pdb.php?prot=VWDE_HUMAN&from=1358&to=1390&var=G1383S	ENST00000275358		ENSG00000146530	21897		21	2.82		HGNC	p.G1383S	rs374183450	VWDE		SNV	T:0						ENST00000275358	protein_coding	getma.org/?cm=var&var=hg19,7,12382736,C,T&fts=all		Superfamily_domains:SSF57196,SMART_domains:SM00181,Gene3D:2.10.25.10,PROSITE_patterns:PS01186,PROSITE_patterns:PS00022,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF67,PROSITE_profiles:PS50026		G/S	T:0.0003	T	medium	4336/5260	0.000115	getma.org/?cm=msa&ty=f&p=VWDE_HUMAN&rb=1358&re=1390&var=G1383S	deleterious(0)				YES	VWDE,missense_variant,p.Gly1383Ser,ENST00000275358,NM_001135924.1;VWDE,3_prime_UTR_variant,,ENST00000452576,;VWDE,3_prime_UTR_variant,,ENST00000521169,;							MODERATE	4147/4773	G1383S	VWDE_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000275358	4.17E-05	CCDS47544.1			1	
SRGAP1	0	LGGM	GRCh37	12	64456743	64456743	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	21	7	.	.	ENST00000355086.3:c.848C>G	p.Thr283Arg	p.T283R	ENST00000355086	NM_020762.2	283	aCa/aGa	0	1	1	UPI00001A9CB9	0	NA	ENST00000355086		ENSG00000196935	17382		28	2.595		HGNC	p.T283R		SRGAP1		SNV							ENST00000357825	protein_coding	getma.org/?cm=var&var=hg19,12,64456743,C,G&fts=all		hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Superfamily_domains:SSF103657		T/R		G	medium	1372/8943		getma.org/?cm=msa&ty=f&p=SRGP1_HUMAN&rb=122&re=321&var=T283R	deleterious(0)				YES	SRGAP1,missense_variant,p.Thr283Arg,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.Thr283Arg,ENST00000357825,;SRGAP1,missense_variant,p.Thr243Arg,ENST00000543397,;RP11-196H14.2,intron_variant,,ENST00000535594,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537556,;							MODERATE	848/3258	T283R	SRGP1_HUMAN			Transcript		possibly_damaging(0.555)	.	ENSP00000347198		CCDS8967.1			1	
ERAL1	0	LGGM	GRCh37	17	27182071	27182071	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	6	7	.	.	ENST00000254928.5:c.19C>T	p.Arg7Cys	p.R7C	ENST00000254928	NM_005702.2	7	Cgc/Tgc	0	1	1	UPI000006DECC	0	NA	ENST00000254928		ENSG00000132591	3424		13	1.79		HGNC	p.R7C	rs373235611,COSM310916	ERAL1		SNV	T:0.0002			0.000516		0,1	ENST00000412138	protein_coding	getma.org/?cm=var&var=hg19,17,27182071,C,T&fts=all	T:0.0008	hmmpanther:PTHR11649,hmmpanther:PTHR11649:SF3		R/C	T:0	T	low	116/1925		getma.org/?cm=msa&ty=f&p=ERAL1_HUMAN&rb=1&re=114&var=R7C	tolerated_low_confidence(0.23)		T:0	T:0	YES	ERAL1,missense_variant,p.Arg7Cys,ENST00000254928,NM_005702.2;ERAL1,missense_variant,p.Arg4Cys,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,missense_variant,p.Arg7Cys,ENST00000461894,;ERAL1,missense_variant,p.Arg7Cys,ENST00000412138,;ERAL1,upstream_gene_variant,,ENST00000471992,;ERAL1,upstream_gene_variant,,ENST00000577942,;		T:0.0002			0,1		MODERATE	19/1314	R7C	ERAL1_HUMAN		T:0	Transcript		benign(0.005)	common_variant	ENSP00000254928	4.12E-05	CCDS11244.1		T:0	1	
SERPINB7	0	LGGM	GRCh37	18	61459646	61459646	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	20	8	.	.	ENST00000398019.2:c.188C>A	p.Ala63Asp	p.A63D	ENST00000398019	NM_003784.3	63	gCc/gAc	0	1		UPI0000135DAA	0	getma.org/pdb.php?prot=SPB7_HUMAN&from=6&to=380&var=A63D	ENST00000336429		ENSG00000166396	13902		28	0.03		HGNC	p.A63D	rs774524304	SERPINB7		SNV			1				ENST00000336429	protein_coding	getma.org/?cm=var&var=hg19,18,61459646,C,A&fts=all		hmmpanther:PTHR11461:SF56,hmmpanther:PTHR11461,Gene3D:3.30.497.10,Pfam_domain:PF00079,SMART_domains:SM00093,Superfamily_domains:SSF56574		A/D		A	neutral	284/1973	1.50E-05	getma.org/?cm=msa&ty=f&p=SPB7_HUMAN&rb=6&re=380&var=A63D	tolerated(0.65)	Q6MZG5_HUMAN,C9JM00_HUMAN,C9JA68_HUMAN				SERPINB7,missense_variant,p.Ala63Asp,ENST00000398019,NM_003784.3;SERPINB7,missense_variant,p.Ala63Asp,ENST00000336429,NM_001040147.2;SERPINB7,missense_variant,p.Ala63Asp,ENST00000546027,NM_001261830.1;SERPINB7,missense_variant,p.Ala63Asp,ENST00000425392,;SERPINB7,missense_variant,p.Ala63Asp,ENST00000447428,;SERPINB7,missense_variant,p.Ala63Asp,ENST00000431370,;SERPINB7,intron_variant,,ENST00000540675,NM_001261831.1;							MODERATE	188/1143	A63D	SPB7_HUMAN			Transcript		benign(0.004)	.	ENSP00000337212	8.24E-06	CCDS11988.1			1	
DOK1	0	LGGM	GRCh37	2	74783835	74783835	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	23	8	.	.	ENST00000233668.5:c.1040A>G	p.Gln347Arg	p.Q347R	ENST00000233668	NM_001381.3	347	cAg/cGg	0	1	1	UPI00001296A9	0	NA	ENST00000233668		ENSG00000115325	2990		31	1.59		HGNC	p.Q347R		DOK1		SNV							ENST00000233668	protein_coding	getma.org/?cm=var&var=hg19,2,74783835,A,G&fts=all		hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF46		Q/R		G	low	1709/2555		getma.org/?cm=msa&ty=f&p=DOK1_HUMAN&rb=255&re=454&var=Q347R	tolerated(0.24)	Q2TA81_HUMAN			YES	DOK1,missense_variant,p.Gln347Arg,ENST00000233668,NM_001381.3;DOK1,missense_variant,p.Gln208Arg,ENST00000409429,NM_001197260.1;DOK1,3_prime_UTR_variant,,ENST00000340004,;LOXL3,upstream_gene_variant,,ENST00000264094,NM_032603.2;LOXL3,upstream_gene_variant,,ENST00000409549,;M1AP,downstream_gene_variant,,ENST00000290536,NM_138804.4;M1AP,downstream_gene_variant,,ENST00000409585,;LOXL3,upstream_gene_variant,,ENST00000409249,;LOXL3,upstream_gene_variant,,ENST00000393937,;M1AP,downstream_gene_variant,,ENST00000536235,NM_001281296.1;LOXL3,upstream_gene_variant,,ENST00000409986,;M1AP,downstream_gene_variant,,ENST00000358434,;LOXL3,upstream_gene_variant,,ENST00000413469,;DOK1,non_coding_transcript_exon_variant,,ENST00000480318,;DOK1,non_coding_transcript_exon_variant,,ENST00000489958,;DOK1,non_coding_transcript_exon_variant,,ENST00000496966,;M1AP,downstream_gene_variant,,ENST00000464686,;LOXL3,upstream_gene_variant,,ENST00000484369,;DOK1,downstream_gene_variant,,ENST00000485132,;DOK1,downstream_gene_variant,,ENST00000488613,;M1AP,downstream_gene_variant,,ENST00000485997,;DOK1,non_coding_transcript_exon_variant,,ENST00000464613,;DOK1,downstream_gene_variant,,ENST00000429631,;DOK1,downstream_gene_variant,,ENST00000482206,;DOK1,downstream_gene_variant,,ENST00000474924,;DOK1,downstream_gene_variant,,ENST00000475191,;							MODERATE	1040/1446	Q347R	DOK1_HUMAN			Transcript		benign(0.002)	.	ENSP00000233668		CCDS1954.1			1	
DTNA	0	LGGM	GRCh37	18	32457730	32457730	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	11	8	.	.	ENST00000598334.1:c.1690A>G	p.Ile564Val	p.I564V	ENST00000598334	NM_001198938.1	564	Atc/Gtc	0	1		UPI000013DD3C	0	NA	ENST00000399113		ENSG00000134769	3057		19	1.78		HGNC	p.I624V		DTNA		SNV			1				ENST00000399113	protein_coding	getma.org/?cm=var&var=hg19,18,32457730,A,G&fts=all		hmmpanther:PTHR11915:SF268,hmmpanther:PTHR11915,PIRSF_domain:PIRSF038204		I/V		G	low	1870/2232		getma.org/?cm=msa&ty=f&p=DTNA_HUMAN&rb=564&re=650&var=I624V	tolerated(0.45)	M0R0C4_HUMAN,K7ERZ2_HUMAN,K7ENJ7_HUMAN,K7EMN1_HUMAN,K7EJ84_HUMAN				DTNA,missense_variant,p.Ile567Val,ENST00000283365,NM_032975.3;DTNA,missense_variant,p.Ile571Val,ENST00000399121,NM_001198939.1;DTNA,missense_variant,p.Ile624Val,ENST00000444659,NM_001390.4;DTNA,missense_variant,p.Ile625Val,ENST00000269190,;DTNA,missense_variant,p.Ile272Val,ENST00000399097,;DTNA,missense_variant,p.Ile564Val,ENST00000595022,NM_001198940.1;DTNA,missense_variant,p.Ile564Val,ENST00000598334,NM_001198938.1;DTNA,missense_variant,p.Ile567Val,ENST00000598142,;DTNA,missense_variant,p.Ile624Val,ENST00000399113,;DTNA,missense_variant,p.Ile333Val,ENST00000269192,NM_001198942.1;DTNA,missense_variant,p.Ile246Val,ENST00000601125,NM_001198943.1;DTNA,missense_variant,p.Ile272Val,ENST00000591182,NM_032980.3;DTNA,missense_variant,p.Ile276Val,ENST00000556414,NM_001198944.1;DTNA,missense_variant,p.Ile50Val,ENST00000590831,;DTNA,upstream_gene_variant,,ENST00000592449,;							MODERATE	1870/2232	I624V	DTNA_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000382064					1	
HELZ2	0	LGGM	GRCh37	20	62192740	62192740	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	20	8	.	.	ENST00000467148.1:c.6916C>A	p.Gln2306Lys	p.Q2306K	ENST00000467148	NM_001037335.2	2306	Cag/Aag	0	1	1	UPI0000246BF7	0	getma.org/pdb.php?prot=PR285_HUMAN&from=2152&to=2399&var=Q2306K	ENST00000467148		ENSG00000130589	30021		28	0.125		HGNC	p.Q1737K		HELZ2		SNV							ENST00000427522	protein_coding	getma.org/?cm=var&var=hg19,20,62192740,G,T&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF332,Pfam_domain:PF13086,Superfamily_domains:SSF52540		Q/K		T	neutral	6986/8064		getma.org/?cm=msa&ty=f&p=PR285_HUMAN&rb=2152&re=2399&var=Q2306K	tolerated(0.66)	Q3C1U4_HUMAN			YES	HELZ2,missense_variant,p.Gln2306Lys,ENST00000467148,NM_001037335.2;HELZ2,missense_variant,p.Gln1737Lys,ENST00000427522,NM_033405.3;C20orf195,downstream_gene_variant,,ENST00000370098,NM_024059.2;C20orf195,downstream_gene_variant,,ENST00000370097,;HELZ2,non_coding_transcript_exon_variant,,ENST00000478861,;							MODERATE	6916/7950	Q2306K	HELZ2_HUMAN			Transcript		benign(0.022)	.	ENSP00000417401		CCDS33508.1			1	
KDM6A	0	LGGM	GRCh37	X	44942729	44942729	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	1	8	.	.	ENST00000377967.4:c.3309G>T	p.Leu1103=	p.L1103=	ENST00000377967	NM_021140.2	1103	ctG/ctT	0	1	1	UPI000013DA92	0		ENST00000377967		ENSG00000147050	12637		9			HGNC	p.L1110L		KDM6A		SNV			1				ENST00000382899	protein_coding			PROSITE_profiles:PS51184,hmmpanther:PTHR14017:SF9,hmmpanther:PTHR14017,SMART_domains:SM00558,Superfamily_domains:SSF51197		L		T		3350/5438				Q68D33_HUMAN,Q59HG3_HUMAN,Q590H7_HUMAN			YES	KDM6A,synonymous_variant,p.=,ENST00000377967,NM_021140.2;KDM6A,synonymous_variant,p.=,ENST00000382899,;KDM6A,synonymous_variant,p.=,ENST00000433797,;KDM6A,synonymous_variant,p.=,ENST00000414389,;KDM6A,synonymous_variant,p.=,ENST00000536777,;KDM6A,synonymous_variant,p.=,ENST00000543216,;KDM6A,non_coding_transcript_exon_variant,,ENST00000484732,;KDM6A,non_coding_transcript_exon_variant,,ENST00000485072,;							LOW	3309/4206		KDM6A_HUMAN			Transcript			.	ENSP00000367203		CCDS14265.1			1	
RNF19A	0	LGGM	GRCh37	8	101276409	101276409	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	2	8	.	.	ENST00000519449.1:c.1321A>G	p.Ile441Val	p.I441V	ENST00000519449	NM_015435.4	441	Att/Gtt	0	1		UPI000013D5E6	0	NA	ENST00000341084		ENSG00000034677	13432		10	1.755		HGNC	p.I441V		RNF19A		SNV							ENST00000341084	protein_coding	getma.org/?cm=var&var=hg19,8,101276409,T,C&fts=all		hmmpanther:PTHR11685,hmmpanther:PTHR11685:SF111		I/V		C	low	1875/4285		getma.org/?cm=msa&ty=f&p=RN19A_HUMAN&rb=348&re=836&var=I441V	deleterious(0.05)	E7ETB2_HUMAN,E7EQV8_HUMAN,E7EQ63_HUMAN,A3KCU8_HUMAN				RNF19A,missense_variant,p.Ile441Val,ENST00000519449,NM_015435.4,NM_001280539.1;RNF19A,missense_variant,p.Ile441Val,ENST00000341084,NM_183419.3;RNF19A,intron_variant,,ENST00000523255,;SPAG1,downstream_gene_variant,,ENST00000519409,;RNF19A,upstream_gene_variant,,ENST00000523644,;RNF19A,non_coding_transcript_exon_variant,,ENST00000520071,;RNF19A,downstream_gene_variant,,ENST00000524233,;RNF19A,upstream_gene_variant,,ENST00000520903,;							MODERATE	1321/2517	I441V	RN19A_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000342667		CCDS6286.1			1	
CLCN6	0	LGGM	GRCh37	1	11884587	11884587	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	12	8	.	.	ENST00000346436.6:c.625G>T	p.Val209Leu	p.V209L	ENST00000346436	NM_001286.3	209	Gtg/Ttg	0	1	1	UPI000013F2D3	0	getma.org/pdb.php?prot=CLCN6_HUMAN&from=138&to=570&var=V209L	ENST00000346436		ENSG00000011021	2024		20	1.49		HGNC	p.V187L		CLCN6		SNV							ENST00000376487	protein_coding	getma.org/?cm=var&var=hg19,1,11884587,G,T&fts=all		Prints_domain:PR01117,Superfamily_domains:SSF81340,Pfam_domain:PF00654,Gene3D:1otsB00,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF69		V/L		T	low	677/5583		getma.org/?cm=msa&ty=f&p=CLCN6_HUMAN&rb=138&re=570&var=V209L	deleterious(0.01)				YES	CLCN6,missense_variant,p.Val209Leu,ENST00000346436,NM_001286.3;CLCN6,missense_variant,p.Val209Leu,ENST00000312413,;CLCN6,missense_variant,p.Val187Leu,ENST00000376487,NM_001256959.1;CLCN6,missense_variant,p.Val209Leu,ENST00000376496,;CLCN6,downstream_gene_variant,,ENST00000376497,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376492,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376490,;CLCN6,non_coding_transcript_exon_variant,,ENST00000376491,;							MODERATE	625/2610	V209L	CLCN6_HUMAN			Transcript		benign(0.049)	.	ENSP00000234488		CCDS138.1			1	
POLD2	0	LGGM	GRCh37	7	44161494	44161494	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	4	8	.	.	ENST00000406581.2:c.159T>G	p.Ile53Met	p.I53M	ENST00000406581	NM_001256879.1	53	atT/atG	0	1	1	UPI000004D0E7	0	getma.org/pdb.php?prot=DPOD2_HUMAN&from=1&to=195&var=I53M	ENST00000406581		ENSG00000106628	9176		12	1.52		HGNC	p.I53M		POLD2		SNV							ENST00000418438	protein_coding	getma.org/?cm=var&var=hg19,7,44161494,A,C&fts=all		hmmpanther:PTHR10416,hmmpanther:PTHR10416:SF0		I/M		C	low	809/2158		getma.org/?cm=msa&ty=f&p=DPOD2_HUMAN&rb=1&re=195&var=I53M	deleterious(0.02)	C9JLE1_HUMAN,C9J8Z7_HUMAN,C9IZD2_HUMAN,A4D2J4_HUMAN			YES	POLD2,missense_variant,p.Ile53Met,ENST00000406581,NM_001256879.1;POLD2,missense_variant,p.Ile53Met,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,missense_variant,p.Ile53Met,ENST00000223361,;POLD2,missense_variant,p.Ile53Met,ENST00000436844,;POLD2,missense_variant,p.Ile53Met,ENST00000433715,;POLD2,missense_variant,p.Ile53Met,ENST00000456038,;POLD2,missense_variant,p.Ile53Met,ENST00000418438,;RNA5SP230,downstream_gene_variant,,ENST00000517039,;POLD2,downstream_gene_variant,,ENST00000481763,;POLD2,non_coding_transcript_exon_variant,,ENST00000463464,;POLD2,non_coding_transcript_exon_variant,,ENST00000470867,;POLD2,non_coding_transcript_exon_variant,,ENST00000496539,;POLD2,non_coding_transcript_exon_variant,,ENST00000461116,;POLD2,upstream_gene_variant,,ENST00000464871,;POLD2,upstream_gene_variant,,ENST00000481104,;POLD2,upstream_gene_variant,,ENST00000467469,;							MODERATE	159/1410	I53M	DPOD2_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000386105		CCDS5477.1			1	
RALGAPA1	0	LGGM	GRCh37	14	36197670	36197670	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	4	8	.	.	ENST00000307138.6:c.1634A>G	p.Asn545Ser	p.N545S	ENST00000307138	NM_194301.2	545	aAt/aGt	0	1		UPI00003B5C50	0	NA	ENST00000389698		ENSG00000174373	17770		12	2.005		HGNC	p.N545S	rs377319153	RALGAPA1		SNV	C:0.0002			0.000108			ENST00000382366	protein_coding	getma.org/?cm=var&var=hg19,14,36197670,T,C&fts=all		hmmpanther:PTHR10063,hmmpanther:PTHR10063:SF3		N/S	C:0	C	medium	2025/7864		getma.org/?cm=msa&ty=f&p=RGPA1_HUMAN&rb=401&re=600&var=N545S	tolerated(0.82)	Q9H984_HUMAN				RALGAPA1,missense_variant,p.Asn545Ser,ENST00000258840,NM_001283044.1;RALGAPA1,missense_variant,p.Asn545Ser,ENST00000307138,NM_194301.2;RALGAPA1,missense_variant,p.Asn545Ser,ENST00000389698,NM_014990.1;RALGAPA1,missense_variant,p.Asn545Ser,ENST00000382366,NM_001283043.1;RALGAPA1,missense_variant,p.Asn545Ser,ENST00000553892,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554704,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000554652,;RALGAPA1,non_coding_transcript_exon_variant,,ENST00000557069,;RALGAPA1,upstream_gene_variant,,ENST00000556839,;							MODERATE	1634/6111	N545S	RGPA1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000374348	8.24E-06	CCDS32065.1			1	
EWSR1	0	LGGM	GRCh37	22	29668233	29668233	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	34	8	.	.	ENST00000414183.2:c.42G>A	p.Ala14=	p.A14=	ENST00000414183		14	gcG/gcA	0	1		UPI000012A2B1	0		ENST00000397938		ENSG00000182944	3508		42			HGNC	p.A14A	rs775729620	EWSR1	0.000121	SNV			1	9.62E-05			ENST00000415761	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238		A		A		361/2654								EWSR1,synonymous_variant,p.=,ENST00000397938,NM_001163286.1,NM_005243.3,NM_001163285.1,NM_013986.3;EWSR1,synonymous_variant,p.=,ENST00000332050,;EWSR1,synonymous_variant,p.=,ENST00000331029,;EWSR1,synonymous_variant,p.=,ENST00000406548,;EWSR1,synonymous_variant,p.=,ENST00000414183,;EWSR1,synonymous_variant,p.=,ENST00000332035,;EWSR1,synonymous_variant,p.=,ENST00000333395,NM_001163287.1;EWSR1,synonymous_variant,p.=,ENST00000437155,;EWSR1,synonymous_variant,p.=,ENST00000455726,;EWSR1,synonymous_variant,p.=,ENST00000415761,;EWSR1,synonymous_variant,p.=,ENST00000447973,;EWSR1,synonymous_variant,p.=,ENST00000444626,;EWSR1,synonymous_variant,p.=,ENST00000436425,;RHBDD3,upstream_gene_variant,,ENST00000216085,NM_012265.1;RHBDD3,upstream_gene_variant,,ENST00000414672,;RHBDD3,upstream_gene_variant,,ENST00000406335,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483415,;EWSR1,non_coding_transcript_exon_variant,,ENST00000493426,;EWSR1,non_coding_transcript_exon_variant,,ENST00000485037,;EWSR1,upstream_gene_variant,,ENST00000479135,;RHBDD3,upstream_gene_variant,,ENST00000413137,;RHBDD3,upstream_gene_variant,,ENST00000493894,;RHBDD3,upstream_gene_variant,,ENST00000488106,;	0.000231						LOW	42/1971		EWS_HUMAN			Transcript			.	ENSP00000381031	4.12E-05	CCDS13851.1			1	
POLD2	0	LGGM	GRCh37	7	44161479	44161479	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	6	8	.	.	ENST00000406581.2:c.174C>A	p.Leu58=	p.L58=	ENST00000406581	NM_001256879.1	58	ctC/ctA	0	1	1	UPI000004D0E7	0		ENST00000406581		ENSG00000106628	9176		14			HGNC	p.L58L		POLD2		SNV							ENST00000418438	protein_coding			hmmpanther:PTHR10416,hmmpanther:PTHR10416:SF0		L		T		824/2158				C9JLE1_HUMAN,C9J8Z7_HUMAN,C9IZD2_HUMAN,A4D2J4_HUMAN			YES	POLD2,synonymous_variant,p.=,ENST00000406581,NM_001256879.1;POLD2,synonymous_variant,p.=,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,synonymous_variant,p.=,ENST00000223361,;POLD2,synonymous_variant,p.=,ENST00000436844,;POLD2,synonymous_variant,p.=,ENST00000433715,;POLD2,synonymous_variant,p.=,ENST00000456038,;POLD2,synonymous_variant,p.=,ENST00000418438,;RNA5SP230,downstream_gene_variant,,ENST00000517039,;POLD2,downstream_gene_variant,,ENST00000481763,;POLD2,non_coding_transcript_exon_variant,,ENST00000463464,;POLD2,non_coding_transcript_exon_variant,,ENST00000470867,;POLD2,non_coding_transcript_exon_variant,,ENST00000496539,;POLD2,non_coding_transcript_exon_variant,,ENST00000461116,;POLD2,upstream_gene_variant,,ENST00000464871,;POLD2,upstream_gene_variant,,ENST00000481104,;POLD2,upstream_gene_variant,,ENST00000467469,;							LOW	174/1410		DPOD2_HUMAN			Transcript			.	ENSP00000386105		CCDS5477.1			1	
TSPAN6	0	LGGM	GRCh37	X	99888980	99888980	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	7	9	.	.	ENST00000373020.4:c.398A>G	p.Tyr133Cys	p.Y133C	ENST00000373020	NM_003270.3	133	tAt/tGt	0	1	1	UPI0000049052	0	NA	ENST00000373020		ENSG00000000003	11858		16	3.56		HGNC	p.Y133C		TSPAN6		SNV							ENST00000373020	protein_coding	getma.org/?cm=var&var=hg19,X,99888980,T,C&fts=all		hmmpanther:PTHR19282,hmmpanther:PTHR19282:SF169,Gene3D:1g8qA00,Pfam_domain:PF00335,PIRSF_domain:PIRSF002419,Superfamily_domains:0037997		Y/C		C	high	510/2206		getma.org/?cm=msa&ty=f&p=TSN6_HUMAN&rb=16&re=237&var=Y133C	deleterious(0)				YES	TSPAN6,missense_variant,p.Tyr133Cys,ENST00000373020,NM_003270.3,NM_001278741.1,NM_001278740.1;TSPAN6,non_coding_transcript_exon_variant,,ENST00000496771,;TSPAN6,non_coding_transcript_exon_variant,,ENST00000494424,;							MODERATE	398/738	Y133C	TSN6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362111		CCDS14470.1			1	
PHACTR3	0	LGGM	GRCh37	20	58342266	58342266	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	14	9	.	.	ENST00000371015.1:c.567T>C	p.Gly189=	p.G189=	ENST00000371015	NM_080672.4	189	ggT/ggC	0	1	1	UPI000006D452	0		ENST00000371015		ENSG00000087495	15833		23			HGNC	p.G148G		PHACTR3		SNV							ENST00000541461	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR12751,hmmpanther:PTHR12751:SF7		G		C		1034/2728				F6RP66_HUMAN			YES	PHACTR3,synonymous_variant,p.=,ENST00000371015,NM_080672.4;PHACTR3,synonymous_variant,p.=,ENST00000395636,NM_183244.1;PHACTR3,synonymous_variant,p.=,ENST00000359926,NM_001199505.1;PHACTR3,synonymous_variant,p.=,ENST00000355648,NM_001199506.1;PHACTR3,synonymous_variant,p.=,ENST00000541461,NM_001281507.1;PHACTR3,intron_variant,,ENST00000395639,;PHACTR3,intron_variant,,ENST00000361300,NM_183246.1;							LOW	567/1680		PHAR3_HUMAN			Transcript			.	ENSP00000360054		CCDS13480.1			1	
ACIN1	0	LGGM	GRCh37	14	23559811	23559811	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	11	9	.	.	ENST00000262710.1:c.410T>C	p.Ile137Thr	p.I137T	ENST00000262710	NM_001164814.1	137	aTa/aCa	0	1	1	UPI000013D308	0	NA	ENST00000262710		ENSG00000100813	17066		20	1.7		HGNC	p.I137T		ACIN1		SNV							ENST00000262710	protein_coding	getma.org/?cm=var&var=hg19,14,23559811,A,G&fts=all		hmmpanther:PTHR14127		I/T		G	low	738/4935		getma.org/?cm=msa&ty=f&p=ACINU_HUMAN&rb=107&re=306&var=I137T		S4R3H4_HUMAN			YES	ACIN1,missense_variant,p.Ile137Thr,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,missense_variant,p.Ile137Thr,ENST00000457657,NM_001164815.1;ACIN1,missense_variant,p.Ile79Thr,ENST00000605057,;ACIN1,missense_variant,p.Ile137Thr,ENST00000555053,;C14orf119,upstream_gene_variant,,ENST00000319074,NM_017924.3;C14orf119,upstream_gene_variant,,ENST00000554203,;							MODERATE	410/4026	I137T	ACINU_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000262710		CCDS9587.1			1	
MTSS1	0	LGGM	GRCh37	8	125580766	125580766	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	192	10	.	.	ENST00000518547.1:c.472A>G	p.Ile158Val	p.I158V	ENST00000518547	NM_014751.4	158	Atc/Gtc	0	1	1	UPI000019B3D8	0	getma.org/pdb.php?prot=MTSS1_HUMAN&from=16&to=237&var=I158V	ENST00000518547		ENSG00000170873	20443		202	0.345		HGNC	p.I158V		MTSS1		SNV							ENST00000518547	protein_coding	getma.org/?cm=var&var=hg19,8,125580766,T,C&fts=all		Gene3D:1y2oA00,Pfam_domain:PF08397,PROSITE_profiles:PS51338,hmmpanther:PTHR15708,hmmpanther:PTHR15708:SF10,Superfamily_domains:SSF103657		I/V		C	neutral	946/4944		getma.org/?cm=msa&ty=f&p=MTSS1_HUMAN&rb=16&re=237&var=I158V	tolerated(0.31)	E5RJX3_HUMAN			YES	MTSS1,missense_variant,p.Ile158Val,ENST00000518547,NM_014751.4;MTSS1,missense_variant,p.Ile158Val,ENST00000378017,NM_001282974.1;MTSS1,missense_variant,p.Ile162Val,ENST00000325064,NM_001282971.1;MTSS1,missense_variant,p.Ile48Val,ENST00000524090,;MTSS1,missense_variant,p.Ile6Val,ENST00000523179,;MTSS1,missense_variant,p.Ile153Val,ENST00000522162,;MTSS1,5_prime_UTR_variant,,ENST00000354184,;MTSS1,5_prime_UTR_variant,,ENST00000431961,;MTSS1,5_prime_UTR_variant,,ENST00000522118,;MTSS1,upstream_gene_variant,,ENST00000519168,;MTSS1,upstream_gene_variant,,ENST00000395508,;NDUFB9,downstream_gene_variant,,ENST00000522532,;MTSS1,upstream_gene_variant,,ENST00000522722,;MTSS1,upstream_gene_variant,,ENST00000519226,;							MODERATE	472/2268	I158V	MTSS1_HUMAN			Transcript		benign(0.029)	.	ENSP00000429064		CCDS6353.1			1	
OR5T2	0	LGGM	GRCh37	11	56000415	56000415	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	13	10	.	.	ENST00000313264.4:c.247G>T	p.Gly83Ter	p.G83*	ENST00000313264	NM_001004746.1	83	Gga/Tga	0	1	1	UPI0000061E97	0	NA	ENST00000313264		ENSG00000181718	15296		23	0		HGNC	p.G83X		OR5T2		SNV							ENST00000313264	protein_coding	getma.org/?cm=var&var=hg19,11,56000415,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247:SF79,hmmpanther:PTHR24247,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		G/*		A	NA	323/1248		NA					YES	OR5T2,stop_gained,p.Gly83Ter,ENST00000313264,NM_001004746.1;							HIGH	247/1080	G83*	OR5T2_HUMAN			Transcript			.	ENSP00000323688		CCDS31523.1			1	
TP53	0	LGGM	GRCh37	17	7577099	7577099	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	7	10	.	.	ENST00000269305.4:c.839G>A	p.Arg280Lys	p.R280K	ENST00000269305	NM_001126112.2	280	aGa/aAa	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=R280K	ENST00000269305		ENSG00000141510	11998		17	3.33		HGNC	p.R280K	TP53_g.13819G>A,COSM10728,COSM129830,COSM3522694,COSM1659144	TP53		SNV			1			0,1,1,1,1	ENST00000269305	protein_coding	getma.org/?cm=var&var=hg19,17,7577099,C,T&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		R/K		T	medium	1029/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=R280K	deleterious(0.04)	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			YES	TP53,missense_variant,p.Arg280Lys,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Arg280Lys,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Arg280Lys,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Arg280Lys,ENST00000445888,;TP53,missense_variant,p.Arg280Lys,ENST00000359597,;TP53,missense_variant,p.Arg148Lys,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,;					0,1,1,1,1		MODERATE	839/1182	R280K	P53_HUMAN			Transcript		possibly_damaging(0.83)	.	ENSP00000269305		CCDS11118.1			1	
SLC22A11	0	LGGM	GRCh37	11	64329742	64329742	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	11	11	.	.	ENST00000301891.4:c.656T>A	p.Val219Glu	p.V219E	ENST00000301891	NM_018484.2	219	gTg/gAg	0	1	1	UPI000003ED3F	0	NA	ENST00000301891		ENSG00000168065	18120		22	2.67		HGNC	p.V219E		SLC22A11		SNV							ENST00000377581	protein_coding	getma.org/?cm=var&var=hg19,11,64329742,T,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR24064:SF39,hmmpanther:PTHR24064,Pfam_domain:PF00083,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		V/E		A	medium	1030/3860		getma.org/?cm=msa&ty=f&p=S22AB_HUMAN&rb=99&re=526&var=V219E	deleterious(0.02)				YES	SLC22A11,missense_variant,p.Val219Glu,ENST00000301891,NM_018484.2;SLC22A11,missense_variant,p.Val219Glu,ENST00000377585,;SLC22A11,missense_variant,p.Val219Glu,ENST00000377581,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000490834,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000478051,;SLC22A11,non_coding_transcript_exon_variant,,ENST00000460745,;							MODERATE	656/1653	V219E	S22AB_HUMAN			Transcript		possibly_damaging(0.574)	.	ENSP00000301891		CCDS8074.1			1	
SBNO1	0	LGGM	GRCh37	12	123812098	123812098	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	21	11	.	.	ENST00000420886.2:c.1567A>G	p.Met523Val	p.M523V	ENST00000420886	NM_001167856.1	523	Atg/Gtg	0	1	1	UPI00001FB922	0	NA	ENST00000420886		ENSG00000139697	22973		32	2.45		HGNC	p.M523V		SBNO1		SNV							ENST00000420886	protein_coding	getma.org/?cm=var&var=hg19,12,123812098,T,C&fts=all		Pfam_domain:PF13872,hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8		M/V		C	medium	1567/10981		getma.org/?cm=msa&ty=f&p=SBNO1_HUMAN&rb=253&re=561&var=M523V	deleterious(0.02)	Q9NVJ3_HUMAN			YES	SBNO1,missense_variant,p.Met523Val,ENST00000420886,NM_001167856.1;SBNO1,missense_variant,p.Met522Val,ENST00000267176,NM_018183.3;SBNO1,missense_variant,p.Met522Val,ENST00000602750,;SBNO1,missense_variant,p.Met523Val,ENST00000602398,;							MODERATE	1567/4182	M523V	SBNO1_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000387361		CCDS53844.1			1	
GCN1L1	0	LGGM	GRCh37	12	120595662	120595662	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	10	11	.	.	ENST00000300648.6:c.3078G>A	p.Arg1026=	p.R1026=	ENST00000300648	NM_006836.1	1026	cgG/cgA	0	1	1	UPI00001FBC69	0		ENST00000300648		ENSG00000089154	4199		21			HGNC	p.R1026R		GCN1L1		SNV							ENST00000300648	protein_coding			Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR23346,hmmpanther:PTHR23346:SF7		R		T		3091/8675				B4DM32_HUMAN			YES	GCN1L1,synonymous_variant,p.=,ENST00000300648,NM_006836.1;MIR4498,upstream_gene_variant,,ENST00000577599,;GCN1L1,downstream_gene_variant,,ENST00000550471,;GCN1L1,downstream_gene_variant,,ENST00000547369,;GCN1L1,upstream_gene_variant,,ENST00000551920,;GCN1L1,upstream_gene_variant,,ENST00000548132,;							LOW	3078/8016		GCN1L_HUMAN			Transcript			.	ENSP00000300648		CCDS41847.1			1	
PCF11	0	LGGM	GRCh37	11	82892138	82892138	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	25	11	.	.	ENST00000298281.4:c.4072T>G	p.Tyr1358Asp	p.Y1358D	ENST00000298281	NM_015885.3	1358	Tat/Gat	0	1	1	UPI00001BB2B7	0	NA	ENST00000298281		ENSG00000165494	30097		36	2.415		HGNC	p.Y1358D		PCF11		SNV							ENST00000298281	protein_coding	getma.org/?cm=var&var=hg19,11,82892138,T,G&fts=all		hmmpanther:PTHR15921:SF3,hmmpanther:PTHR15921		Y/D		G	medium	4524/7677		getma.org/?cm=msa&ty=f&p=PCF11_HUMAN&rb=1328&re=1527&var=Y1358D	deleterious(0)	E9PKN0_HUMAN			YES	PCF11,missense_variant,p.Tyr1358Asp,ENST00000298281,NM_015885.3;PCF11,missense_variant,p.Tyr143Asp,ENST00000530906,;RP11-727A23.11,downstream_gene_variant,,ENST00000602322,;RP11-727A23.5,downstream_gene_variant,,ENST00000602381,;RP11-727A23.4,intron_variant,,ENST00000528133,;PCF11,non_coding_transcript_exon_variant,,ENST00000528336,;							MODERATE	4072/4668	Y1358D	PCF11_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000298281		CCDS44689.1			1	
ZNF573	0	LGGM	GRCh37	19	38229799	38229799	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	25	11	.	.	ENST00000590414.2:c.1592G>T	p.Cys531Phe	p.C531F	ENST00000590414		531	tGt/tTt	0	1		UPI0000F534BA	0	getma.org/pdb.php?prot=ZN573_HUMAN&from=492&to=516&var=C511F	ENST00000536220		ENSG00000189144	26420		36	3.645		HGNC	p.C443F		ZNF573		SNV							ENST00000357309	protein_coding	getma.org/?cm=var&var=hg19,19,38229799,C,A&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24377:SF159,hmmpanther:PTHR24377,PROSITE_profiles:PS50157		C/F		A	high	1852/2448		getma.org/?cm=msa&ty=f&p=ZN573_HUMAN&rb=472&re=536&var=C511F	deleterious(0)					ZNF573,missense_variant,p.Cys473Phe,ENST00000339503,NM_152360.3;ZNF573,missense_variant,p.Cys443Phe,ENST00000536220,NM_001172689.1,NM_001172691.1,NM_001172690.1;ZNF573,missense_variant,p.Cys444Phe,ENST00000392138,;ZNF573,missense_variant,p.Cys531Phe,ENST00000590414,;ZNF573,missense_variant,p.Cys443Phe,ENST00000357309,NM_001172692.1;ZNF573,downstream_gene_variant,,ENST00000378445,;ZNF573,downstream_gene_variant,,ENST00000585724,;ZNF573,intron_variant,,ENST00000590674,;ZNF573,3_prime_UTR_variant,,ENST00000589632,;ZNF573,3_prime_UTR_variant,,ENST00000586155,;ZNF573,downstream_gene_variant,,ENST00000489148,;ZNF573,downstream_gene_variant,,ENST00000591516,;							MODERATE	1328/1734	C511F	ZN573_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000440464		CCDS54260.1			1	
HIST1H2AE	0	LGGM	GRCh37	6	26217391	26217391	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	22	12	.	.	ENST00000303910.2:c.189C>G	p.Ile63Met	p.I63M	ENST00000303910	NM_021052.2	63	atC/atG	0	1	1	UPI00000007AF	0	getma.org/pdb.php?prot=H2A1B_HUMAN&from=18&to=91&var=I63M	ENST00000303910		ENSG00000168274	4724		34	3.76		HGNC	p.I63M		HIST1H2AE		SNV							ENST00000303910	protein_coding	getma.org/?cm=var&var=hg19,6,26217391,C,G&fts=all		hmmpanther:PTHR23430:SF24,hmmpanther:PTHR23430,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00414,Superfamily_domains:SSF47113,Prints_domain:PR00620		I/M		G	high	227/547		getma.org/?cm=msa&ty=f&p=H2A1B_HUMAN&rb=18&re=91&var=I63M	deleterious_low_confidence(0)	Q08AJ9_HUMAN			YES	HIST1H2AE,missense_variant,p.Ile63Met,ENST00000303910,NM_021052.2;HIST1H2BG,upstream_gene_variant,,ENST00000244601,NM_003518.3;							MODERATE	189/393	I63M	H2A1B_HUMAN			Transcript		possibly_damaging(0.876)	.	ENSP00000303373		CCDS4595.1			1	
TMEM167A	0	LGGM	GRCh37	5	82352967	82352967	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	16	13	.	.	ENST00000502346.1:c.155G>C	p.Arg52Pro	p.R52P	ENST00000502346	NM_174909.4	52	cGg/cCg	0	1	1	UPI0000049FBA	0		ENST00000502346		ENSG00000174695	28330		29			HGNC	p.R52P		TMEM167A		SNV							ENST00000502346	protein_coding			hmmpanther:PTHR13229		R/P		G		328/4630			deleterious(0)				YES	TMEM167A,missense_variant,p.Arg52Pro,ENST00000502346,NM_174909.4;TMEM167A,non_coding_transcript_exon_variant,,ENST00000511450,;TMEM167A,non_coding_transcript_exon_variant,,ENST00000504622,;TMEM167A,non_coding_transcript_exon_variant,,ENST00000503892,;TMEM167A,non_coding_transcript_exon_variant,,ENST00000509770,;TMEM167A,non_coding_transcript_exon_variant,,ENST00000511118,;							MODERATE	155/219		KISHA_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000424707		CCDS34198.1			1	
PRPF4B	0	LGGM	GRCh37	6	4052301	4052301	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	33	13	.	.	ENST00000337659.6:c.2285A>G	p.His762Arg	p.H762R	ENST00000337659	NM_003913.4	762	cAt/cGt	0	1	1	UPI000013DD12	0	getma.org/pdb.php?prot=PRP4B_HUMAN&from=687&to=1003&var=H762R	ENST00000337659		ENSG00000112739	17346		46	2.375		HGNC	p.H748R		PRPF4B		SNV							ENST00000538861	protein_coding	getma.org/?cm=var&var=hg19,6,4052301,A,G&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF45,SMART_domains:SM00220,Superfamily_domains:SSF56112		H/R		G	medium	2385/4415		getma.org/?cm=msa&ty=f&p=PRP4B_HUMAN&rb=687&re=1003&var=H762R	deleterious(0)	H0YDJ3_HUMAN,F5H2U2_HUMAN			YES	PRPF4B,missense_variant,p.His762Arg,ENST00000337659,NM_003913.4;PRPF4B,missense_variant,p.His748Arg,ENST00000538861,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000466185,;FAM217A,intron_variant,,ENST00000469157,;FAM217A,upstream_gene_variant,,ENST00000463904,;PRPF4B,missense_variant,p.His762Arg,ENST00000480058,;PRPF4B,missense_variant,p.His342Arg,ENST00000481109,;PRPF4B,non_coding_transcript_exon_variant,,ENST00000463634,;							MODERATE	2285/3024	H762R	PRP4B_HUMAN			Transcript		unknown(0)	.	ENSP00000337194		CCDS4488.1			1	
APOB	0	LGGM	GRCh37	2	21235340	21235340	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	20	15	.	.	ENST00000233242.1:c.4400C>T	p.Ala1467Val	p.A1467V	ENST00000233242	NM_000384.2	1467	gCt/gTt	0	1	1	UPI0000141B94	0	NA	ENST00000233242		ENSG00000084674	603		35	1.1		HGNC	p.A1467V	COSM274012	APOB		SNV			1			1	ENST00000233242	protein_coding	getma.org/?cm=var&var=hg19,2,21235340,G,A&fts=all		hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		A/V		A	low	4528/14121		getma.org/?cm=msa&ty=f&p=APOB_HUMAN&rb=1273&re=1472&var=A1467V		S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,missense_variant,p.Ala1467Val,ENST00000233242,NM_000384.2;					1		MODERATE	4400/13692	A1467V	APOB_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000233242		CCDS1703.1			1	
CCDC30	0	LGGM	GRCh37	1	43102975	43102975	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	21	15	.	.	ENST00000428554.2:c.1564G>A	p.Glu522Lys	p.E522K	ENST00000428554		522	Gaa/Aaa	0	1		UPI0000458A0B	0	NA	ENST00000340612		ENSG00000186409	26103		36	1.955		HGNC	p.E522K		CCDC30		SNV							ENST00000342022	protein_coding	getma.org/?cm=var&var=hg19,1,43102975,G,A&fts=all				E/K		A	medium	1564/2664		getma.org/?cm=msa&ty=f&p=CCD30_HUMAN&rb=510&re=570&var=E522K	tolerated(0.07)	D6RFH8_HUMAN				CCDC30,missense_variant,p.Glu522Lys,ENST00000428554,;CCDC30,missense_variant,p.Glu522Lys,ENST00000342022,NM_001080850.2;CCDC30,missense_variant,p.Glu522Lys,ENST00000340612,;CCDC30,missense_variant,p.Glu311Lys,ENST00000507855,;CCDC30,missense_variant,p.Glu311Lys,ENST00000390640,;CCDC30,missense_variant,p.Glu220Lys,ENST00000477155,;CCDC30,3_prime_UTR_variant,,ENST00000471390,;							MODERATE	1564/2352	E522K	CCD30_HUMAN			Transcript		benign(0.199)	.	ENSP00000340378		CCDS30690.1			1	
GPR98	0	LGGM	GRCh37	5	90101143	90101143	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	46	16	.	.	ENST00000405460.2:c.14704G>T	p.Ala4902Ser	p.A4902S	ENST00000405460	NM_032119.3	4902	Gct/Tct	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		62	1.085		HGNC	p.A4902S		GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90101143,G,T&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		A/S		T	low	14800/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=4890&re=4995&var=A4902S					YES	GPR98,missense_variant,p.Ala4902Ser,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ala563Ser,ENST00000425867,;GPR98,non_coding_transcript_exon_variant,,ENST00000513828,;							MODERATE	14704/18921	A4902S	GPR98_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000384582		CCDS47246.1			1	
FUCA2	0	LGGM	GRCh37	6	143825244	143825244	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	34	16	.	.	ENST00000002165.6:c.558G>A	p.Trp186Ter	p.W186*	ENST00000002165	NM_032020.4	186	tgG/tgA	0	1	1	UPI0000073C10	0	NA	ENST00000002165		ENSG00000001036	4008		50	0		HGNC	p.W186X		FUCA2		SNV							ENST00000002165	protein_coding	getma.org/?cm=var&var=hg19,6,143825244,C,T&fts=all		hmmpanther:PTHR10030,hmmpanther:PTHR10030:SF24,Pfam_domain:PF01120,Gene3D:3.20.20.80,SMART_domains:SM00812,PIRSF_domain:PIRSF001092,Superfamily_domains:SSF51445,Prints_domain:PR00741		W/*		T	NA	614/2356		NA					YES	FUCA2,stop_gained,p.Trp186Ter,ENST00000002165,NM_032020.4;FUCA2,intron_variant,,ENST00000438118,;FUCA2,upstream_gene_variant,,ENST00000451668,;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000591892,;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000593045,;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000590703,;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000415586,;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000593175,;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000591189,;RP1-20N2.6,intron_variant,,ENST00000589563,;RP1-20N2.6,downstream_gene_variant,,ENST00000610068,;RP1-20N2.6,upstream_gene_variant,,ENST00000589489,;FUCA2,intron_variant,,ENST00000367585,;							HIGH	558/1404	W186*	FUCO2_HUMAN			Transcript			.	ENSP00000002165		CCDS5200.1			1	
CXCL3	0	LGGM	GRCh37	4	74904011	74904011	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	14	16	.	.	ENST00000296026.4:c.220G>C	p.Val74Leu	p.V74L	ENST00000296026	NM_002090.2	74	Gtc/Ctc	0	1	1	UPI0000000DFD	0	getma.org/pdb.php?prot=CXCL3_HUMAN&from=34&to=101&var=V74L	ENST00000296026		ENSG00000163734	4604		30	2.465		HGNC	p.V74L		CXCL3		SNV							ENST00000296026	protein_coding	getma.org/?cm=var&var=hg19,4,74904011,C,G&fts=all		hmmpanther:PTHR10179,hmmpanther:PTHR10179:SF39,PROSITE_patterns:PS00471,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117,Prints_domain:PR00436,Prints_domain:PR00437		V/L		G	medium	298/1075		getma.org/?cm=msa&ty=f&p=CXCL3_HUMAN&rb=34&re=101&var=V74L	deleterious(0)	Q6LD32_HUMAN			YES	CXCL3,missense_variant,p.Val74Leu,ENST00000296026,NM_002090.2;CXCL3,non_coding_transcript_exon_variant,,ENST00000511669,;CXCL3,non_coding_transcript_exon_variant,,ENST00000510390,;CXCL3,non_coding_transcript_exon_variant,,ENST00000502974,;							MODERATE	220/324	V74L	CXCL3_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000296026		CCDS34007.1			1	
HTR5A	0	LGGM	GRCh37	7	154862966	154862966	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	8	16	.	.	ENST00000287907.2:c.357G>A	p.Ala119=	p.A119=	ENST00000287907	NM_024012.3	119	gcG/gcA	0	1	1	UPI000004477E	0		ENST00000287907		ENSG00000157219	5300		24			HGNC	p.H16H	rs376955221	HTR5A	6.07E-05	SNV	A:0.0007			0.000488			ENST00000543018	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF14,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A	A:0	A		933/2912	1.52E-05			Q86UN1_HUMAN,Q75LH0_HUMAN,A4D2N2_HUMAN			YES	HTR5A,synonymous_variant,p.=,ENST00000287907,NM_024012.3;HTR5A-AS1,synonymous_variant,p.=,ENST00000395731,;HTR5A-AS1,synonymous_variant,p.=,ENST00000543018,;HTR5A-AS1,non_coding_transcript_exon_variant,,ENST00000493904,;							LOW	357/1074		5HT5A_HUMAN			Transcript			common_variant	ENSP00000287907	5.77E-05	CCDS5936.1			1	
FAM154A	0	LGGM	GRCh37	9	18928700	18928700	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	4	16	.	.	ENST00000380534.4:c.775G>C	p.Ala259Pro	p.A259P	ENST00000380534	NM_153707.2	259	Gcc/Ccc	0	1	1	UPI0000367609	0	NA	ENST00000380534		ENSG00000155875	28566		20	0.535		HGNC	p.A67P		FAM154A		SNV							ENST00000542071	protein_coding	getma.org/?cm=var&var=hg19,9,18928700,C,G&fts=all		hmmpanther:PTHR31516,hmmpanther:PTHR31516:SF5,Pfam_domain:PF05217		A/P		G	neutral	1055/2099		getma.org/?cm=msa&ty=f&p=F154A_HUMAN&rb=199&re=336&var=A259P	tolerated(0.26)	F6S232_HUMAN			YES	FAM154A,missense_variant,p.Ala259Pro,ENST00000380534,NM_153707.2,NM_001287049.1;FAM154A,missense_variant,p.Ala67Pro,ENST00000542071,NM_001287050.1;FAM154A,3_prime_UTR_variant,,ENST00000380530,NM_001287050.1;							MODERATE	775/1425	A259P	F154A_HUMAN			Transcript		benign(0.033)	.	ENSP00000369907		CCDS6487.1			1	
ZNF549	0	LGGM	GRCh37	19	58046639	58046639	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	26	16	.	.	ENST00000376233.3:c.199+1G>T		p.X67_splice	ENST00000376233	NM_001199295.1			0	1	1	UPI0000202D31	0		ENST00000376233		ENSG00000121406	26632		42			HGNC	p.T124N		ZNF549		SNV							ENST00000601415	protein_coding							T		-/4053							YES	ZNF549,splice_donor_variant,,ENST00000602149,;ZNF549,splice_donor_variant,,ENST00000376233,NM_001199295.1;ZNF549,splice_donor_variant,,ENST00000240719,NM_153263.2;ZNF550,missense_variant,p.Thr124Asn,ENST00000601415,;ZNF549,intron_variant,,ENST00000594943,;							HIGH	199/1923		ZN549_HUMAN			Transcript			.	ENSP00000365407		CCDS56106.1			1	
SYCP3	0	LGGM	GRCh37	12	102127453	102127453	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	27	17	.	.	ENST00000392927.3:c.354-1G>T		p.X118_splice	ENST00000392927	NM_001177948.1			0	1		UPI00000740A6	0		ENST00000266743		ENSG00000139351	18130		44			HGNC	-		SYCP3		SNV			1				ENST00000266743	protein_coding							A		-/1068								SYCP3,splice_acceptor_variant,,ENST00000392927,NM_001177948.1,NM_001177949.1,NM_153694.4;SYCP3,splice_acceptor_variant,,ENST00000266743,;SYCP3,splice_acceptor_variant,,ENST00000392924,;CHPT1,downstream_gene_variant,,ENST00000229266,NM_020244.2;SYCP3,splice_acceptor_variant,,ENST00000478139,;CHPT1,intron_variant,,ENST00000546873,;CHPT1,downstream_gene_variant,,ENST00000552215,;CHPT1,downstream_gene_variant,,ENST00000549128,;CHPT1,downstream_gene_variant,,ENST00000552351,;SYCP3,upstream_gene_variant,,ENST00000478238,;							HIGH	354/711		SYCP3_HUMAN			Transcript			.	ENSP00000266743		CCDS9087.1			1	
ZNF804B	0	LGGM	GRCh37	7	88962880	88962880	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	35	17	.	.	ENST00000333190.4:c.584G>A	p.Arg195Lys	p.R195K	ENST00000333190	NM_181646.2	195	aGg/aAg	0	1	1	UPI00001A92D2	0	NA	ENST00000333190		ENSG00000182348	21958		52	0.895		HGNC	p.R195K		ZNF804B		SNV							ENST00000333190	protein_coding	getma.org/?cm=var&var=hg19,7,88962880,G,A&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF12		R/K		A	low	1193/4659		getma.org/?cm=msa&ty=f&p=Z804B_HUMAN&rb=83&re=249&var=R195K	tolerated(0.07)				YES	ZNF804B,missense_variant,p.Arg195Lys,ENST00000333190,NM_181646.2;							MODERATE	584/4050	R195K	Z804B_HUMAN			Transcript		benign(0.027)	.	ENSP00000329638		CCDS5613.1			1	
OBSCN	0	LGGM	GRCh37	1	228480477	228480477	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	32	17	.	.	ENST00000570156.2:c.12144C>T	p.Leu4048=	p.L4048=	ENST00000570156	NM_001271223.2	4048	ctC/ctT	0	1		UPI0001838884	0		ENST00000422127		ENSG00000154358	15719		49			HGNC	p.L2466L		OBSCN		SNV							ENST00000359599	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		L		T		10901/24030								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,;							LOW	10857/23907		OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
CDH17	0	LGGM	GRCh37	8	95172291	95172291	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	135	17	.	.	ENST00000027335.3:c.1459A>C	p.Ile487Leu	p.I487L	ENST00000027335	NM_004063.3	487	Att/Ctt	0	1	1	UPI000013C546	0	getma.org/pdb.php?prot=CAD17_HUMAN&from=456&to=558&var=I487L	ENST00000027335		ENSG00000079112	1756		152	1.885		HGNC	p.I487L		CDH17		SNV							ENST00000450165	protein_coding	getma.org/?cm=var&var=hg19,8,95172291,T,G&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF292,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313		I/L		G	low	1584/3693		getma.org/?cm=msa&ty=f&p=CAD17_HUMAN&rb=456&re=558&var=I487L	deleterious(0)	E5RJT3_HUMAN			YES	CDH17,missense_variant,p.Ile487Leu,ENST00000027335,NM_004063.3;CDH17,missense_variant,p.Ile487Leu,ENST00000450165,NM_001144663.1;CDH17,missense_variant,p.Ile273Leu,ENST00000441892,;CDH17,missense_variant,p.Ile49Leu,ENST00000520952,;							MODERATE	1459/2499	I487L	CAD17_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000027335		CCDS6260.1			1	
MARK1	0	LGGM	GRCh37	1	220835424	220835424	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	31	17	.	.	ENST00000366917.4:c.2304T>A	p.Asn768Lys	p.N768K	ENST00000366917	NM_001286124.1	768	aaT/aaA	0	1	1	UPI0000048D8B	0	getma.org/pdb.php?prot=MARK1_HUMAN&from=749&to=795&var=N768K	ENST00000366917		ENSG00000116141	6896		48	2.35		HGNC	p.N768K		MARK1		SNV							ENST00000366917	protein_coding	getma.org/?cm=var&var=hg19,1,220835424,T,A&fts=all		Superfamily_domains:SSF103243,Gene3D:3.30.310.80,Pfam_domain:PF02149,hmmpanther:PTHR24346:SF21,hmmpanther:PTHR24346,PROSITE_profiles:PS50032		N/K		A	medium	2570/2946		getma.org/?cm=msa&ty=f&p=MARK1_HUMAN&rb=749&re=795&var=N768K	deleterious(0)	B4DIB3_HUMAN			YES	MARK1,missense_variant,p.Asn618Lys,ENST00000402574,NM_018650.3,NM_001286126.1;MARK1,missense_variant,p.Asn731Lys,ENST00000366918,NM_001286128.1;MARK1,missense_variant,p.Asn768Lys,ENST00000366917,NM_001286124.1;RP11-322F10.2,downstream_gene_variant,,ENST00000446040,;							MODERATE	2304/2388	N768K	MARK1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000355884		CCDS31029.2			1	
ADAM7	0	LGGM	GRCh37	8	24304704	24304704	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	23	17	.	.	ENST00000175238.6:c.162G>T	p.Thr54=	p.T54=	ENST00000175238	NM_003817.3	54	acG/acT	0	1	1	UPI000013C5CC	0		ENST00000175238		ENSG00000069206	214		40			HGNC	p.T54T	rs375404131	ADAM7	0.00194	SNV	T:0.0002			9.65E-05			ENST00000175238	protein_coding		T:0	hmmpanther:PTHR11905:SF21,hmmpanther:PTHR11905,Pfam_domain:PF01562		T	T:0	T		245/3367	7.55E-05				T:0	T:0	YES	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,;		T:0.0010					LOW	162/2265		ADAM7_HUMAN		T:0	Transcript			common_variant	ENSP00000175238	0.000297	CCDS6045.1		T:0.0051	1	
NAV3	0	LGGM	GRCh37	12	78400586	78400586	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	40	17	.	.	ENST00000536525.2:c.1268T>C	p.Met423Thr	p.M423T	ENST00000536525	NM_014903.4	423	aTg/aCg	0	1		UPI0000E59849	0	NA	ENST00000397909		ENSG00000067798	15998		57	1.15		HGNC	p.M423T		NAV3		SNV							ENST00000549464	protein_coding	getma.org/?cm=var&var=hg19,12,78400586,T,C&fts=all		hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF18		M/T		C	low	1441/9821		getma.org/?cm=msa&ty=f&p=NAV3_HUMAN&rb=385&re=584&var=M423T	tolerated_low_confidence(0.44)	F8VZV4_HUMAN				NAV3,missense_variant,p.Met423Thr,ENST00000397909,NM_001024383.1;NAV3,missense_variant,p.Met423Thr,ENST00000228327,;NAV3,missense_variant,p.Met423Thr,ENST00000266692,;NAV3,missense_variant,p.Met423Thr,ENST00000536525,NM_014903.4;NAV3,missense_variant,p.Met423Thr,ENST00000549464,;NAV3,downstream_gene_variant,,ENST00000550503,;NAV3,downstream_gene_variant,,ENST00000547725,;NAV3,upstream_gene_variant,,ENST00000550673,;							MODERATE	1268/7158	M423T	NAV3_HUMAN			Transcript		benign(0)	.	ENSP00000381007		CCDS66432.1			1	
COPS3	0	LGGM	GRCh37	17	17171258	17171258	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	7	18	.	.	ENST00000268717.5:c.382A>G	p.Ile128Val	p.I128V	ENST00000268717	NM_003653.3	128	Ata/Gta	0	1	1	UPI0000073FD1	0	NA	ENST00000268717		ENSG00000141030	2239		25	1.265		HGNC	p.I128V		COPS3		SNV							ENST00000268717	protein_coding	getma.org/?cm=var&var=hg19,17,17171258,T,C&fts=all		hmmpanther:PTHR10758		I/V		C	low	489/1641		getma.org/?cm=msa&ty=f&p=CSN3_HUMAN&rb=1&re=200&var=I128V	tolerated(0.09)	J3QKR0_HUMAN			YES	COPS3,missense_variant,p.Ile108Val,ENST00000539941,NM_001199125.1;COPS3,missense_variant,p.Ile128Val,ENST00000268717,NM_003653.3;COPS3,missense_variant,p.Ile108Val,ENST00000439936,;COPS3,missense_variant,p.Ile128Val,ENST00000417352,;COPS3,missense_variant,p.Ile56Val,ENST00000583160,;COPS3,3_prime_UTR_variant,,ENST00000578317,;COPS3,3_prime_UTR_variant,,ENST00000584216,;COPS3,3_prime_UTR_variant,,ENST00000492672,;COPS3,3_prime_UTR_variant,,ENST00000577210,;COPS3,3_prime_UTR_variant,,ENST00000477299,;COPS3,3_prime_UTR_variant,,ENST00000577246,;COPS3,3_prime_UTR_variant,,ENST00000495640,;COPS3,non_coding_transcript_exon_variant,,ENST00000486810,;COPS3,non_coding_transcript_exon_variant,,ENST00000462236,;							MODERATE	382/1272	I128V	CSN3_HUMAN			Transcript		benign(0.399)	.	ENSP00000268717		CCDS11183.1			1	
SCUBE3	0	LGGM	GRCh37	6	35213081	35213081	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	38	18	.	.	ENST00000274938.7:c.2478T>A	p.Ala826=	p.A826=	ENST00000274938	NM_152753.2	826	gcT/gcA	0	1	1	UPI0000074423	0		ENST00000274938		ENSG00000146197	13655		56			HGNC	p.A842A		SCUBE3		SNV							ENST00000394681	protein_coding			PROSITE_profiles:PS01180,hmmpanther:PTHR24046,hmmpanther:PTHR24046:SF2,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042,Superfamily_domains:SSF49854		A		A		2478/7356				Q7Z3I8_HUMAN			YES	SCUBE3,synonymous_variant,p.=,ENST00000274938,NM_152753.2;SCUBE3,synonymous_variant,p.=,ENST00000394681,;							LOW	2478/2982		SCUB3_HUMAN			Transcript			.	ENSP00000274938		CCDS4800.1			1	
TMPRSS5	0	LGGM	GRCh37	11	113566145	113566145	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	36	18	.	.	ENST00000299882.5:c.599A>C	p.Gln200Pro	p.Q200P	ENST00000299882	NM_030770.2	200	cAa/cCa	0	1	1	UPI00001FA3AA	0	NA	ENST00000299882		ENSG00000166682	14908		54	1.87		HGNC	p.Q191P		TMPRSS5		SNV							ENST00000545579	protein_coding	getma.org/?cm=var&var=hg19,11,113566145,T,G&fts=all		hmmpanther:PTHR24256:SF18,hmmpanther:PTHR24256,Gene3D:3.10.250.10,Pfam_domain:PF15494,Superfamily_domains:SSF56487		Q/P		G	low	748/2232		getma.org/?cm=msa&ty=f&p=TMPS5_HUMAN&rb=112&re=207&var=Q200P	deleterious(0.04)	G5EA43_HUMAN,F5H2M3_HUMAN,B0YJB1_HUMAN			YES	TMPRSS5,missense_variant,p.Gln200Pro,ENST00000299882,NM_030770.2,NM_001288750.1;TMPRSS5,missense_variant,p.Gln191Pro,ENST00000545579,NM_001288751.1;TMPRSS5,missense_variant,p.Gln156Pro,ENST00000538955,;TMPRSS5,5_prime_UTR_variant,,ENST00000540540,;TMPRSS5,5_prime_UTR_variant,,ENST00000536856,;TMPRSS5,5_prime_UTR_variant,,ENST00000538770,;TMPRSS5,5_prime_UTR_variant,,ENST00000539732,;TMPRSS5,intron_variant,,ENST00000544634,NM_001288752.1;TMPRSS5,intron_variant,,ENST00000544476,;TMPRSS5,upstream_gene_variant,,ENST00000545265,;TMPRSS5,upstream_gene_variant,,ENST00000545412,;TMPRSS5,downstream_gene_variant,,ENST00000538091,;							MODERATE	599/1374	Q200P	TMPS5_HUMAN			Transcript		benign(0.136)	.	ENSP00000299882		CCDS44735.1			1	
NALCN	0	LGGM	GRCh37	13	101759921	101759921	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	17	18	.	.	ENST00000251127.6:c.2496C>T	p.Tyr832=	p.Y832=	ENST00000251127	NM_052867.2	832	taC/taT	0	1	1	UPI000004EBBD	0		ENST00000251127		ENSG00000102452	19082		35			HGNC	p.Y832Y	rs545583748	NALCN		SNV			1	9.61E-05			ENST00000251127	protein_coding		A:0.0008	hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176		Y		A		2578/6816				B3KX53_HUMAN,B3KMK1_HUMAN	A:0	A:0	YES	NALCN,synonymous_variant,p.=,ENST00000251127,NM_052867.2;		A:0.0002					LOW	2496/5217		NALCN_HUMAN		A:0	Transcript			.	ENSP00000251127	8.24E-06	CCDS9498.1		A:0	1	
ARID4B	0	LGGM	GRCh37	1	235409814	235409814	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	22	19	.	.	ENST00000264183.3:c.367C>T	p.Leu123Phe	p.L123F	ENST00000264183	NM_016374.5	123	Ctc/Ttc	0	1	1	UPI00000437FE	0	NA	ENST00000264183		ENSG00000054267	15550		41	2.585		HGNC	p.L123F		ARID4B		SNV							ENST00000418304	protein_coding	getma.org/?cm=var&var=hg19,1,235409814,G,A&fts=all		hmmpanther:PTHR13964:SF21,hmmpanther:PTHR13964		L/F		A	medium	865/6067		getma.org/?cm=msa&ty=f&p=ARI4B_HUMAN&rb=1&re=165&var=L123F	deleterious(0)				YES	ARID4B,missense_variant,p.Leu123Phe,ENST00000264183,NM_016374.5;ARID4B,missense_variant,p.Leu123Phe,ENST00000366603,NM_001206794.1;ARID4B,missense_variant,p.Leu123Phe,ENST00000349213,NM_031371.3;ARID4B,missense_variant,p.Leu123Phe,ENST00000418304,;ARID4B,missense_variant,p.Leu123Phe,ENST00000421364,;ARID4B,non_coding_transcript_exon_variant,,ENST00000491632,;ARID4B,non_coding_transcript_exon_variant,,ENST00000466653,;							MODERATE	367/3939	L123F	ARI4B_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000264183		CCDS31061.1			1	
KIAA1244	0	LGGM	GRCh37	6	138655180	138655180	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	32	20	.	.	ENST00000251691.4:c.5197T>G	p.Leu1733Val	p.L1733V	ENST00000251691	NM_020340.4	1733	Tta/Gta	0	1	1	UPI000150AF4A	0	NA	ENST00000251691		ENSG00000112379	21213		52	1.385		HGNC	p.L1733V		KIAA1244		SNV							ENST00000251691	protein_coding	getma.org/?cm=var&var=hg19,6,138655180,T,G&fts=all		hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		L/V		G	low	5363/14877		getma.org/?cm=msa&ty=f&p=BIG3_HUMAN&rb=1719&re=1918&var=L1733V	deleterious(0)	C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,missense_variant,p.Leu1733Val,ENST00000251691,NM_020340.4;							MODERATE	5197/6534	L1733V	BIG3_HUMAN			Transcript		possibly_damaging(0.529)	.	ENSP00000251691		CCDS5189.2			1	
LINC00862	0	LGGM	GRCh37	1	200312437	200312437	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	39	21	.	.	ENST00000367355.1:n.652G>A		*218*	ENST00000367355				0	1	1		0		ENST00000367355		ENSG00000203721	21901		60			HGNC	p.K51K		LINC00862		SNV							ENST00000367356	lincRNA							T		652/1417							YES	LINC00862,non_coding_transcript_exon_variant,,ENST00000367355,;LINC00862,non_coding_transcript_exon_variant,,ENST00000367356,;							MODIFIER						Transcript			.						1	
CDK14	0	LGGM	GRCh37	7	90613488	90613488	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	47	21	.	.	ENST00000265741.3:c.919A>G	p.Met307Val	p.M307V	ENST00000265741	NM_012395.2	307	Atg/Gtg	0	1		UPI000013EAF4	0	getma.org/pdb.php?prot=CDK14_HUMAN&from=135&to=419&var=M325V	ENST00000380050		ENSG00000058091	8883		68	2.19		HGNC	p.M279V		CDK14		SNV							ENST00000406263	protein_coding	getma.org/?cm=var&var=hg19,7,90613488,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056:SF154,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		M/V		G	medium	1104/4995		getma.org/?cm=msa&ty=f&p=CDK14_HUMAN&rb=135&re=419&var=M325V	deleterious(0)	C9JWL6_HUMAN,C9IYJ9_HUMAN				CDK14,missense_variant,p.Met279Val,ENST00000406263,NM_001287136.1;CDK14,missense_variant,p.Met325Val,ENST00000380050,NM_001287137.1,NM_001287135.1;CDK14,missense_variant,p.Met307Val,ENST00000265741,NM_012395.2;CDK14,missense_variant,p.Met196Val,ENST00000436577,;CDK14,downstream_gene_variant,,ENST00000460493,;							MODERATE	973/1410	M325V	CDK14_HUMAN			Transcript		possibly_damaging(0.604)	.	ENSP00000369390					1	
SLC16A10	0	LGGM	GRCh37	6	111498516	111498516	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	23	23	.	.	ENST00000368851.5:c.590A>T	p.Lys197Met	p.K197M	ENST00000368851	NM_018593.4	197	aAg/aTg	0	1	1	UPI00000497DB	0	NA	ENST00000368851		ENSG00000112394	17027		46	2.855		HGNC	p.K197M		SLC16A10		SNV							ENST00000368851	protein_coding	getma.org/?cm=var&var=hg19,6,111498516,A,T&fts=all		hmmpanther:PTHR11360:SF119,hmmpanther:PTHR11360,Gene3D:1.20.1250.20,Pfam_domain:PF07690,Superfamily_domains:SSF103473		K/M		T	medium	765/2508		getma.org/?cm=msa&ty=f&p=MOT10_HUMAN&rb=74&re=380&var=K197M	deleterious(0)	Q9P1I2_HUMAN			YES	SLC16A10,missense_variant,p.Lys197Met,ENST00000368851,NM_018593.4;SLC16A10,missense_variant,p.Lys83Met,ENST00000419619,;SLC16A10,missense_variant,p.Lys83Met,ENST00000439288,;SLC16A10,5_prime_UTR_variant,,ENST00000368850,;SLC16A10,non_coding_transcript_exon_variant,,ENST00000465319,;							MODERATE	590/1548	K197M	MOT10_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000357844		CCDS5089.1			1	
OR5R1	0	LGGM	GRCh37	11	56184976	56184976	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	28	23	.	.	ENST00000312253.1:c.733A>G	p.Met245Val	p.M245V	ENST00000312253	NM_001004744.1	245	Atg/Gtg	0	1	1	UPI000004B225	0	NA	ENST00000312253		ENSG00000174942	14841		51	1.045		HGNC	p.M245V		OR5R1		SNV							ENST00000312253	protein_coding	getma.org/?cm=var&var=hg19,11,56184976,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF89,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		M/V		C	low	733/975		getma.org/?cm=msa&ty=f&p=OR5R1_HUMAN&rb=139&re=283&var=M245V	deleterious(0.05)				YES	OR5R1,missense_variant,p.Met245Val,ENST00000312253,NM_001004744.1;OR5AL1,downstream_gene_variant,,ENST00000440231,;OR5AL1,downstream_gene_variant,,ENST00000327258,;							MODERATE	733/975	M245V	OR5R1_HUMAN			Transcript		benign(0.026)	.	ENSP00000308595		CCDS31530.1			1	
DHX37	0	LGGM	GRCh37	12	125470754	125470754	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	33	23	.	.	ENST00000308736.2:c.164A>G	p.Lys55Arg	p.K55R	ENST00000308736	NM_032656.3	55	aAg/aGg	0	1	1	UPI00000742DC	0	NA	ENST00000308736		ENSG00000150990	17210		56	0.765		HGNC	p.K55R		DHX37		SNV							ENST00000308736	protein_coding	getma.org/?cm=var&var=hg19,12,125470754,T,C&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF99,Low_complexity_(Seg):seg		K/R		C	neutral	263/4548		getma.org/?cm=msa&ty=f&p=DHX37_HUMAN&rb=1&re=179&var=K55R	tolerated(0.07)	Q6IPP7_HUMAN			YES	DHX37,missense_variant,p.Lys55Arg,ENST00000308736,NM_032656.3;DHX37,non_coding_transcript_exon_variant,,ENST00000539298,;							MODERATE	164/3474	K55R	DHX37_HUMAN			Transcript		benign(0)	.	ENSP00000311135		CCDS9261.1			1	
TTLL8	0	LGGM	GRCh37	22	50472829	50472829	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	2	24	.	.	ENST00000433387.1:c.1044G>A	p.Arg348=	p.R348=	ENST00000433387		348	cgG/cgA	0	1	1	UPI0001915500	0		ENST00000433387		ENSG00000138892	34000		26			HGNC	p.R312R		TTLL8		SNV							ENST00000440475	protein_coding			Superfamily_domains:SSF56059,Pfam_domain:PF03133,hmmpanther:PTHR12241,hmmpanther:PTHR12241:SF88,PROSITE_profiles:PS51221		R		T		1044/2549							YES	TTLL8,synonymous_variant,p.=,ENST00000433387,;TTLL8,synonymous_variant,p.=,ENST00000266182,;TTLL8,synonymous_variant,p.=,ENST00000440475,;							LOW	1044/2549		TTLL8_HUMAN			Transcript			.	ENSP00000392252					1	
MED8	0	LGGM	GRCh37	1	43850138	43850138	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	38	24	.	.	ENST00000290663.6:c.889C>A	p.His297Asn	p.H297N	ENST00000290663	NM_052877.4	297	Cac/Aac	0	1		UPI00000015C8	0		ENST00000372457		ENSG00000159479	19971		62			HGNC	p.H297N		MED8		SNV							ENST00000290663	protein_coding							T		1426/1924								MED8,missense_variant,p.His297Asn,ENST00000290663,NM_052877.4;MED8,3_prime_UTR_variant,,ENST00000372457,NM_201542.4,NM_001001653.2;MED8,downstream_gene_variant,,ENST00000372455,;RP1-92O14.6,upstream_gene_variant,,ENST00000436713,;MED8,downstream_gene_variant,,ENST00000473560,;MED8,downstream_gene_variant,,ENST00000460803,;							MODIFIER	-/807		MED8_HUMAN			Transcript			.	ENSP00000361535		CCDS487.2			1	
SLC17A4	0	LGGM	GRCh37	6	25771234	25771234	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	66	24	.	.	ENST00000377905.4:c.700A>G	p.Ile234Val	p.I234V	ENST00000377905	NM_005495.2	234	Atc/Gtc	0	1	1	UPI0000073585	0	NA	ENST00000377905		ENSG00000146039	10932		90	1.385		HGNC	p.I234V	rs749734829	SLC17A4		SNV							ENST00000377905	protein_coding	getma.org/?cm=var&var=hg19,6,25771234,A,G&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50850,hmmpanther:PTHR11662,hmmpanther:PTHR11662:SF25,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		I/V		G	low	819/3616	1.50E-05	getma.org/?cm=msa&ty=f&p=S17A4_HUMAN&rb=43&re=444&var=I234V	tolerated(0.11)				YES	SLC17A4,missense_variant,p.Ile234Val,ENST00000377905,NM_005495.2,NM_001286121.1;SLC17A4,intron_variant,,ENST00000397076,;SLC17A4,intron_variant,,ENST00000439485,;							MODERATE	700/1494	I234V	S17A4_HUMAN			Transcript		probably_damaging(0.917)	.	ENSP00000367137	8.24E-06	CCDS4564.1			1	
PATL1	0	LGGM	GRCh37	11	59410412	59410412	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	124	25	.	.	ENST00000300146.9:c.1990C>T	p.Gln664Ter	p.Q664*	ENST00000300146	NM_152716.2	664	Caa/Taa	0	1	1	UPI00001FA7D8	0	NA	ENST00000300146		ENSG00000166889	26721		149	0		HGNC	p.Q664X		PATL1		SNV							ENST00000300146	protein_coding	getma.org/?cm=var&var=hg19,11,59410412,G,A&fts=all		hmmpanther:PTHR21551,hmmpanther:PTHR21551:SF2,Pfam_domain:PF09770		Q/*		A	NA	2075/4072		NA		B3KXN0_HUMAN			YES	PATL1,stop_gained,p.Gln664Ter,ENST00000300146,NM_152716.2;AP000442.1,downstream_gene_variant,,ENST00000531311,;AP000442.1,downstream_gene_variant,,ENST00000531108,;PATL1,non_coding_transcript_exon_variant,,ENST00000531919,;							HIGH	1990/2313	Q664*	PATL1_HUMAN			Transcript			.	ENSP00000300146		CCDS44613.1			1	
SATB1	0	LGGM	GRCh37	3	18438782	18438782	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	31	25	.	.	ENST00000417717.2:c.640A>T	p.Ser214Cys	p.S214C	ENST00000417717	NM_001195470.1	214	Agt/Tgt	0	1		UPI0000000C35	0	getma.org/pdb.php?prot=SATB1_HUMAN&from=201&to=361&var=S214C	ENST00000338745		ENSG00000182568	10541		56	1.905		HGNC	p.S214C		SATB1		SNV							ENST00000440737	protein_coding	getma.org/?cm=var&var=hg19,3,18438782,T,A&fts=all		hmmpanther:PTHR15116,hmmpanther:PTHR15116:SF14		S/C		A	medium	2375/7810		getma.org/?cm=msa&ty=f&p=SATB1_HUMAN&rb=201&re=361&var=S214C	deleterious(0)	C9JP21_HUMAN,C9JLL5_HUMAN,C9JGL9_HUMAN,C9J7F3_HUMAN,C9J3I0_HUMAN				SATB1,missense_variant,p.Ser214Cys,ENST00000338745,NM_002971.4;SATB1,missense_variant,p.Ser214Cys,ENST00000417717,NM_001195470.1;SATB1,missense_variant,p.Ser214Cys,ENST00000454909,NM_001131010.2;SATB1,missense_variant,p.Ser214Cys,ENST00000440737,;SATB1,splice_region_variant,,ENST00000475083,;TBC1D5,intron_variant,,ENST00000414318,;							MODERATE	640/2292	S214C	SATB1_HUMAN			Transcript		possibly_damaging(0.818)	.	ENSP00000341024		CCDS2631.1			1	
PPAP2C	0	LGGM	GRCh37	19	287751	287751	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	58	27	.	.	ENST00000327790.3:c.268G>A	p.Val90Ile	p.V90I	ENST00000327790	NM_177543.2	90	Gtc/Atc	0	1		UPI0000168653	0	NA	ENST00000434325		ENSG00000141934	9230		85	-0.15		HGNC	p.V69I		PPAP2C		SNV							ENST00000269812	protein_coding	getma.org/?cm=var&var=hg19,19,287751,C,T&fts=all		hmmpanther:PTHR10165:SF25,hmmpanther:PTHR10165,Transmembrane_helices:TMhelix		V/I		T	neutral	221/926		getma.org/?cm=msa&ty=f&p=LPP2_HUMAN&rb=1&re=94&var=V69I	tolerated(1)					PPAP2C,missense_variant,p.Val69Ile,ENST00000269812,NM_003712.3,NM_177526.2;PPAP2C,missense_variant,p.Val90Ile,ENST00000327790,NM_177543.2;PPAP2C,missense_variant,p.Val13Ile,ENST00000434325,;PPAP2C,missense_variant,p.Val75Ile,ENST00000591572,;PPAP2C,upstream_gene_variant,,ENST00000586998,;PPAP2C,splice_region_variant,,ENST00000589672,;							MODERATE	37/699	V69I	LPP2_HUMAN			Transcript		benign(0.007)	.	ENSP00000388565		CCDS45889.1			1	
HECTD4	0	LGGM	GRCh37	12	112686282	112686282	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	54	27	.	.	ENST00000550722.1:c.3547G>A	p.Val1183Met	p.V1183M	ENST00000550722	NM_001109662.3	1183	Gtg/Atg	0	1	1	UPI00020CE513	0	NA	ENST00000550722		ENSG00000173064	26611		81	0.345		HGNC	p.V907M		HECTD4		SNV							ENST00000430131	protein_coding	getma.org/?cm=var&var=hg19,12,112686282,C,T&fts=all				V/M		T	neutral	3943/15405		getma.org/?cm=msa&ty=f&p=K0614_HUMAN&rb=1&re=2133&var=V907M		F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,missense_variant,p.Val1183Met,ENST00000550722,NM_001109662.3;HECTD4,missense_variant,p.Val1157Met,ENST00000377560,;HECTD4,missense_variant,p.Val907Met,ENST00000430131,;HECTD4,downstream_gene_variant,,ENST00000311694,;							MODERATE	3547/12819	V907M				Transcript		benign(0.28)	.	ENSP00000449784					1	
KITLG	0	LGGM	GRCh37	12	88928486	88928486	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	88	35	.	.	ENST00000228280.5:c.130-2206G>C		*44*	ENST00000228280	NM_000899.4			0	1	1	UPI000002D482	0		ENST00000228280		ENSG00000049130	6343		123			HGNC	p.P2P		KITLG		SNV			1				ENST00000378535	protein_coding							G		-/1642				S4R442_HUMAN,S4R384_HUMAN			YES	KITLG,intron_variant,,ENST00000347404,NM_003994.5;KITLG,intron_variant,,ENST00000228280,NM_000899.4;KITLG,intron_variant,,ENST00000357116,;KITLG,intron_variant,,ENST00000552044,;KITLG,non_coding_transcript_exon_variant,,ENST00000378535,;							MODIFIER	-/822		SCF_HUMAN			Transcript			.	ENSP00000228280		CCDS31868.1			1	
ZSCAN2	0	LGGM	GRCh37	15	85164946	85164946	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111889	H111889N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	29	35	.	.	ENST00000448803.2:c.1520G>A	p.Cys507Tyr	p.C507Y	ENST00000448803	NM_181877.3	507	tGt/tAt	0	1	1	UPI000021D4BC	0	getma.org/pdb.php?prot=ZSCA2_HUMAN&from=488&to=513&var=C507Y	ENST00000448803		ENSG00000176371	20994		64	3.96		HGNC	p.C507Y		ZSCAN2		SNV							ENST00000540894	protein_coding	getma.org/?cm=var&var=hg19,15,85164946,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF9,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/Y		A	high	1812/3813		getma.org/?cm=msa&ty=f&p=ZSCA2_HUMAN&rb=468&re=533&var=C507Y	deleterious(0)	F8W6Y9_HUMAN,F5H789_HUMAN,F5H2D8_HUMAN,F5H1K4_HUMAN			YES	ZSCAN2,missense_variant,p.Cys507Tyr,ENST00000448803,NM_181877.3;ZSCAN2,missense_variant,p.Cys357Tyr,ENST00000358472,;ZSCAN2,missense_variant,p.Cys506Tyr,ENST00000327179,;ZSCAN2,missense_variant,p.Cys507Tyr,ENST00000546148,;ZSCAN2,intron_variant,,ENST00000538076,;ZSCAN2,intron_variant,,ENST00000541040,;ZSCAN2,intron_variant,,ENST00000485222,;ZSCAN2,downstream_gene_variant,,ENST00000540936,;ZSCAN2,upstream_gene_variant,,ENST00000303310,;ZSCAN2,missense_variant,p.Cys507Tyr,ENST00000540894,;							MODERATE	1520/1845	C507Y	ZSCA2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000410198		CCDS10329.2			1	
DUSP10	0	LGGM	GRCh37	1	221879458	221879458	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	51	37	.	.	ENST00000366899.3:c.1162G>T	p.Glu388Ter	p.E388*	ENST00000366899	NM_007207.4	388	Gaa/Taa	0	1	1	UPI000003473B	0	NA	ENST00000366899		ENSG00000143507	3065		88	0		HGNC	p.E46X		DUSP10		SNV							ENST00000544095	protein_coding	getma.org/?cm=var&var=hg19,1,221879458,C,A&fts=all		Prints_domain:PR01764,Prints_domain:PR01908,Superfamily_domains:SSF52799,SMART_domains:SM00195,Gene3D:3.90.190.10,Pfam_domain:PF00782,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF299,PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,Low_complexity_(Seg):seg		E/*		A	NA	1401/2676		NA					YES	DUSP10,stop_gained,p.Glu388Ter,ENST00000366899,NM_007207.4;DUSP10,stop_gained,p.Glu46Ter,ENST00000544095,NM_144728.2;DUSP10,stop_gained,p.Glu46Ter,ENST00000323825,NM_144729.2;DUSP10,non_coding_transcript_exon_variant,,ENST00000468085,;DUSP10,non_coding_transcript_exon_variant,,ENST00000477026,;DUSP10,non_coding_transcript_exon_variant,,ENST00000494642,;							HIGH	1162/1449	E388*	DUS10_HUMAN			Transcript			.	ENSP00000355866		CCDS1528.1			1	
ITGB1BP1	0	LGGM	GRCh37	2	9558772	9558772	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	77	39	.	.	ENST00000360635.3:c.55A>G	p.Ile19Val	p.I19V	ENST00000360635		19	Atc/Gtc	0	1		UPI000012DA43	0	NA	ENST00000355346		ENSG00000119185	23927		116	0.695		HGNC	p.I19V		ITGB1BP1		SNV							ENST00000359712	protein_coding	getma.org/?cm=var&var=hg19,2,9558772,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR32055,hmmpanther:PTHR32055:SF1,Pfam_domain:PF10480		I/V		C	neutral	265/1963		getma.org/?cm=msa&ty=f&p=ITBP1_HUMAN&rb=1&re=200&var=I19V	tolerated_low_confidence(0.14)	C9JZ07_HUMAN,C9JBU8_HUMAN,C9J6Y2_HUMAN,C9J5T5_HUMAN,C9J0J6_HUMAN,C9IZZ8_HUMAN				ITGB1BP1,missense_variant,p.Ile19Val,ENST00000360635,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000359712,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000355346,NM_004763.3;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000238091,NM_022334.3;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000456913,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000488451,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000492079,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000494563,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000460001,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000497105,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000484735,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000467606,;CPSF3,upstream_gene_variant,,ENST00000238112,NM_016207.3;ITGB1BP1,intron_variant,,ENST00000490426,;ITGB1BP1,intron_variant,,ENST00000482798,;ITGB1BP1,intron_variant,,ENST00000497031,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000483795,;ITGB1BP1,missense_variant,p.Ile19Val,ENST00000464228,;ITGB1BP1,intron_variant,,ENST00000463190,;							MODERATE	55/603	I19V	ITBP1_HUMAN			Transcript		unknown(0)	.	ENSP00000347504		CCDS1662.1			1	
ACO1	0	LGGM	GRCh37	9	32418434	32418434	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	20	43	.	.	ENST00000309951.6:c.583T>C	p.Tyr195His	p.Y195H	ENST00000309951	NM_002197.2	195	Tat/Cat	0	1	1	UPI000012D87E	0	getma.org/pdb.php?prot=ACOC_HUMAN&from=54&to=564&var=Y195H	ENST00000309951		ENSG00000122729	117		63	1.8		HGNC	p.Y96H		ACO1		SNV							ENST00000541043	protein_coding	getma.org/?cm=var&var=hg19,9,32418434,T,C&fts=all		hmmpanther:PTHR11670:SF32,hmmpanther:PTHR11670,Gene3D:3.30.499.10,Pfam_domain:PF00330,TIGRFAM_domain:TIGR01341,Superfamily_domains:SSF53732		Y/H		C	low	721/7466		getma.org/?cm=msa&ty=f&p=ACOC_HUMAN&rb=54&re=564&var=Y195H	tolerated(0.11)	Q9HBB2_HUMAN			YES	ACO1,missense_variant,p.Tyr195His,ENST00000309951,NM_002197.2;ACO1,missense_variant,p.Tyr195His,ENST00000379923,NM_001278352.1;ACO1,missense_variant,p.Tyr96His,ENST00000541043,;							MODERATE	583/2670	Y195H	ACOC_HUMAN			Transcript		benign(0.001)	.	ENSP00000309477		CCDS6525.1			1	
DNAH11	0	LGGM	GRCh37	7	21640318	21640318	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	82	45	.	.	ENST00000328843.6:c.3025C>G	p.Leu1009Val	p.L1009V	ENST00000328843		1009	Ctg/Gtg	0	1		UPI0002B8CE70	0		ENST00000409508		ENSG00000105877	2942		127			HGNC	p.L1009V	rs542059067	DNAH11	0.000137	SNV			1				ENST00000328843	protein_coding		G:0	hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF227		L/V		G		3056/14167			tolerated(0.1)	U3KQJ8_HUMAN,Q75MY1_HUMAN,Q75KM7_HUMAN,O95705_HUMAN,O43352_HUMAN,O15433_HUMAN,H9NAJ8_HUMAN,H9NAJ7_HUMAN	G:0	G:0.001		DNAH11,missense_variant,p.Leu1009Val,ENST00000328843,;DNAH11,missense_variant,p.Leu1009Val,ENST00000409508,NM_001277115.1;	0.000464	G:0.0002					MODERATE	3025/13551				G:0	Transcript		probably_damaging(0.999)	common_variant	ENSP00000475939	4.96E-05	CCDS64602.1		G:0	1	
GCNT3	0	LGGM	GRCh37	15	59911568	59911568	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	57	46	.	.	ENST00000396065.1:c.1131T>C	p.Ala377=	p.A377=	ENST00000396065	NM_004751.2	377	gcT/gcC	0	1	1	UPI0000034962	0		ENST00000396065		ENSG00000140297	4205		103			HGNC	p.A377A		GCNT3		SNV							ENST00000396065	protein_coding			Pfam_domain:PF02485,hmmpanther:PTHR19297,hmmpanther:PTHR19297:SF81		A		C		1579/3034				H0YNA3_HUMAN,H0YMW7_HUMAN,H0YM40_HUMAN			YES	GCNT3,synonymous_variant,p.=,ENST00000396065,NM_004751.2;GCNT3,synonymous_variant,p.=,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,;							LOW	1131/1317		GCNT3_HUMAN			Transcript			.	ENSP00000379377		CCDS10172.1			1	
GPR98	0	LGGM	GRCh37	5	89938576	89938576	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111889	H111889N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	59	47	.	.	ENST00000405460.2:c.2364A>G	p.Ile788Met	p.I788M	ENST00000405460	NM_032119.3	788	atA/atG	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=638&to=837&var=I788M	ENST00000405460		ENSG00000164199	17416		106	1.79		HGNC	p.I788M	rs751037860	GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,89938576,A,G&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072,Superfamily_domains:SSF141072		I/M		G	low	2460/19338	1.50E-05	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=638&re=837&var=I788M					YES	GPR98,missense_variant,p.Ile788Met,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ile377Met,ENST00000504142,;GPR98,non_coding_transcript_exon_variant,,ENST00000512205,;							MODERATE	2364/18921	I788M	GPR98_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000384582	8.28E-06	CCDS47246.1			1	
CXorf22	0	LGGM	GRCh37	X	35993940	35993940	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111889	H111889N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	9	49	.	.	ENST00000297866.5:c.2623T>A	p.Leu875Met	p.L875M	ENST00000297866	NM_152632.3	875	Ttg/Atg	0	1	1	UPI000022DD27	0	NA	ENST00000297866		ENSG00000165164	28546		58	2.395		HGNC	p.L875M		CXorf22		SNV							ENST00000297866	protein_coding	getma.org/?cm=var&var=hg19,X,35993940,T,A&fts=all		hmmpanther:PTHR23053		L/M		A	medium	2689/3608		getma.org/?cm=msa&ty=f&p=CX022_HUMAN&rb=23&re=950&var=L875M	deleterious(0.04)				YES	CXorf22,missense_variant,p.Leu875Met,ENST00000297866,NM_152632.3;CXorf22,3_prime_UTR_variant,,ENST00000493930,;							MODERATE	2623/2931	L875M	CX022_HUMAN			Transcript		possibly_damaging(0.799)	.	ENSP00000297866		CCDS14237.2			1	
STARD9	0	LGGM	GRCh37	15	42978638	42978638	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111889	H111889N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111889N.bam, H111889T.bam	Illumina HiSeq	80	76	.	.	ENST00000290607.7:c.4862C>T	p.Ala1621Val	p.A1621V	ENST00000290607	NM_020759.2	1621	gCa/gTa	0	1	1	UPI0001BE8155	0	NA	ENST00000290607		ENSG00000159433	19162		156	1.245		HGNC	p.A1621V		STARD9		SNV							ENST00000290607	protein_coding	getma.org/?cm=var&var=hg19,15,42978638,C,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF323		A/V		T	low	4919/15567		getma.org/?cm=msa&ty=f&p=STAR9_HUMAN&rb=762&re=3238&var=A1621V		B4DMS6_HUMAN			YES	STARD9,missense_variant,p.Ala1621Val,ENST00000290607,NM_020759.2;STARD9,downstream_gene_variant,,ENST00000569419,;STARD9,upstream_gene_variant,,ENST00000562619,;STARD9,downstream_gene_variant,,ENST00000562139,;							MODERATE	4862/14103	A1621V	STAR9_HUMAN			Transcript		benign(0.097)	.	ENSP00000290607		CCDS53935.1			1	
SEPN1	0	LGGM	GRCh37	1	26139221	26139221	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	6	2	.	.	ENST00000361547.2:c.1325C>A	p.Ala442Asp	p.A442D	ENST00000361547	NM_020451.2	442	gCt/gAt	0	1	1	UPI00003761B2	0	NA	ENST00000361547		ENSG00000162430	15999		8	2.045		HGNC	p.A408D		SEPN1		SNV			1				ENST00000354177	protein_coding	getma.org/?cm=var&var=hg19,1,26139221,C,A&fts=all		hmmpanther:PTHR16213,hmmpanther:PTHR16213:SF39		A/D		A	medium	1380/4332		getma.org/?cm=msa&ty=f&p=SELN_HUMAN&rb=171&re=589&var=A442D	deleterious(0.05)	D3DPJ3_HUMAN			YES	SEPN1,missense_variant,p.Ala442Asp,ENST00000361547,NM_020451.2;SEPN1,missense_variant,p.Ala408Asp,ENST00000354177,;SEPN1,missense_variant,p.Ala408Asp,ENST00000374315,NM_206926.1;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,;							MODERATE	1325/1773	A442D	SELN_HUMAN			Transcript		possibly_damaging(0.736)	.	ENSP00000355141		CCDS41282.1			1	
AQP7	0	LGGM	GRCh37	9	33391502	33391502	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	3	2	.	.	ENST00000297988.1:c.144+3574G>A		*48*	ENST00000297988	NM_001170.1			0	1	1	UPI0000125D23	0		ENST00000297988		ENSG00000165269	640		5			HGNC	p.G10R	rs753063347	AQP7	0.000254	SNV			1				ENST00000379503	protein_coding							T		-/1256				Q5T5L3_HUMAN			YES	AQP7,missense_variant,p.Gly10Arg,ENST00000379503,;AQP7,intron_variant,,ENST00000537089,;AQP7,intron_variant,,ENST00000539936,;AQP7,intron_variant,,ENST00000297988,NM_001170.1;AQP7,intron_variant,,ENST00000379507,;AQP7,intron_variant,,ENST00000377425,;AQP7,intron_variant,,ENST00000379506,;AQP7,intron_variant,,ENST00000541274,;AQP7,intron_variant,,ENST00000439678,;	0.00233						MODIFIER	-/1029		AQP7_HUMAN			Transcript			common_variant	ENSP00000297988	0.000147	CCDS6541.1			1	
KRT83	0	LGGM	GRCh37	12	52710303	52710303	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	45	3	.	.	ENST00000293670.3:c.990G>T	p.Leu330=	p.L330=	ENST00000293670	NM_002282.3	330	ctG/ctT	0	1	1	UPI0000070AF2	0		ENST00000293670		ENSG00000170523	6460		48			HGNC	p.L330L		KRT83		SNV			1				ENST00000293670	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143,Pfam_domain:PF00038		L		A		1053/1875				Q8NFV1_HUMAN,Q8N120_HUMAN			YES	KRT83,synonymous_variant,p.=,ENST00000293670,NM_002282.3;AC121757.1,downstream_gene_variant,,ENST00000594763,;							LOW	990/1482		KRT83_HUMAN			Transcript			.	ENSP00000293670		CCDS8823.1			1	
TSHZ2	0	LGGM	GRCh37	20	51871999	51871999	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	21	3	.	.	ENST00000371497.5:c.2002C>T	p.Gln668Ter	p.Q668*	ENST00000371497	NM_173485.5	668	Cag/Tag	0	1	1	UPI0000206747	0	NA	ENST00000371497		ENSG00000182463	13010		24	0		HGNC	p.Q665X		TSHZ2		SNV							ENST00000329613	protein_coding	getma.org/?cm=var&var=hg19,20,51871999,C,T&fts=all		hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487		Q/*		T	NA	2889/12187		NA		S4R3C8_HUMAN			YES	TSHZ2,stop_gained,p.Gln668Ter,ENST00000371497,NM_173485.5,NM_001193421.1;TSHZ2,stop_gained,p.Gln665Ter,ENST00000603338,;TSHZ2,stop_gained,p.Gln665Ter,ENST00000329613,;RP4-678D15.1,downstream_gene_variant,,ENST00000606932,;TSHZ2,upstream_gene_variant,,ENST00000605656,;							HIGH	2002/3105	Q668*	TSH2_HUMAN			Transcript			.	ENSP00000360552		CCDS33490.1			1	
HECW2	0	LGGM	GRCh37	2	197184299	197184299	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	3	.	.	ENST00000260983.3:c.1315A>C	p.Arg439=	p.R439=	ENST00000260983	NM_020760.1	439	Agg/Cgg	0	1	1	UPI00001A75E8	0		ENST00000260983		ENSG00000138411	29853		20			HGNC	p.R439R		HECW2		SNV							ENST00000260983	protein_coding			hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254		R		G		1498/11809				C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.1;HECW2,synonymous_variant,p.=,ENST00000409111,;							LOW	1315/4719		HECW2_HUMAN			Transcript			.	ENSP00000260983		CCDS33354.1			1	
SFXN1	0	LGGM	GRCh37	5	174940511	174940511	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	33	3	.	.	ENST00000321442.5:c.642C>A	p.Arg214=	p.R214=	ENST00000321442	NM_022754.5	214	cgC/cgA	0	1	1	UPI0000044799	0		ENST00000321442		ENSG00000164466	16085		36			HGNC	p.R214R		SFXN1		SNV							ENST00000321442	protein_coding			hmmpanther:PTHR11153:SF21,hmmpanther:PTHR11153,TIGRFAM_domain:TIGR00798,Pfam_domain:PF03820		R		A		896/4231				D6RFI0_HUMAN,D6RDG7_HUMAN			YES	SFXN1,synonymous_variant,p.=,ENST00000321442,NM_022754.5;SFXN1,downstream_gene_variant,,ENST00000506963,;SFXN1,downstream_gene_variant,,ENST00000502393,;SFXN1,downstream_gene_variant,,ENST00000507017,;SFXN1,3_prime_UTR_variant,,ENST00000507823,;SFXN1,3_prime_UTR_variant,,ENST00000502865,;SFXN1,non_coding_transcript_exon_variant,,ENST00000515736,;SFXN1,downstream_gene_variant,,ENST00000513725,;SFXN1,downstream_gene_variant,,ENST00000508290,;							LOW	642/969		SFXN1_HUMAN			Transcript			.	ENSP00000316905		CCDS4394.1			1	
OR2T11	0	LGGM	GRCh37	1	248790066	248790066	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	35	3	.	.	ENST00000330803.2:c.364G>A	p.Ala122Thr	p.A122T	ENST00000330803	NM_001001964.1	122	Gct/Act	0	1	1	UPI000004F23F	0	NA	ENST00000330803		ENSG00000183130	19574		38	3.74		HGNC	p.A122T		OR2T11		SNV							ENST00000330803	protein_coding	getma.org/?cm=var&var=hg19,1,248790066,C,T&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF173,Superfamily_domains:SSF81321		A/T		T	high	426/1072		getma.org/?cm=msa&ty=f&p=O2T11_HUMAN&rb=1&re=135&var=A122T	deleterious(0)				YES	OR2T11,missense_variant,p.Ala122Thr,ENST00000330803,NM_001001964.1;							MODERATE	364/951	A122T	O2T11_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000328934		CCDS31122.1			1	
MBD2	0	LGGM	GRCh37	18	51750471	51750471	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	2	3	.	.	ENST00000256429.3:c.459G>T	p.Pro153=	p.P153=	ENST00000256429	NM_003927.4	153	ccG/ccT	0	1	1	UPI000003166A	0		ENST00000256429		ENSG00000134046	6917		5			HGNC	p.P153P		MBD2		SNV							ENST00000256429	protein_coding			PROSITE_profiles:PS50982,hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF2,Gene3D:3.30.890.10,Pfam_domain:PF01429,SMART_domains:SM00391,Superfamily_domains:SSF54171		P		A		688/4080				Q69YZ5_HUMAN,O60535_HUMAN			YES	MBD2,synonymous_variant,p.=,ENST00000256429,NM_003927.4;MBD2,synonymous_variant,p.=,ENST00000398398,;MBD2,synonymous_variant,p.=,ENST00000583046,NM_015832.4;SNORA37,upstream_gene_variant,,ENST00000384504,NR_002970.1;							LOW	459/1236		MBD2_HUMAN			Transcript			.	ENSP00000256429		CCDS11953.1			1	
HECW2	0	LGGM	GRCh37	2	197184300	197184300	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	3	.	.	ENST00000260983.3:c.1314G>T	p.Glu438Asp	p.E438D	ENST00000260983	NM_020760.1	438	gaG/gaT	0	1	1	UPI00001A75E8	0	NA	ENST00000260983		ENSG00000138411	29853		20	-0.46		HGNC	p.E438D		HECW2		SNV							ENST00000260983	protein_coding	getma.org/?cm=var&var=hg19,2,197184300,C,A&fts=all		hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254		E/D		A	neutral	1497/11809		getma.org/?cm=msa&ty=f&p=HECW2_HUMAN&rb=283&re=482&var=E438D	tolerated_low_confidence(0.21)	C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,missense_variant,p.Glu438Asp,ENST00000260983,NM_020760.1;HECW2,missense_variant,p.Glu82Asp,ENST00000409111,;							MODERATE	1314/4719	E438D	HECW2_HUMAN			Transcript		benign(0.002)	.	ENSP00000260983		CCDS33354.1			1	
APOBEC3F	0	LGGM	GRCh37	22	39439067	39439067	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	22	3	.	.	ENST00000308521.5:c.143G>T	p.Arg48Leu	p.R48L	ENST00000308521	NM_145298.5	48	cGt/cTt	0	1	1	UPI000016074C	0	getma.org/pdb.php?prot=ABC3F_HUMAN&from=3&to=189&var=R48L	ENST00000308521		ENSG00000128394	17356		25	-0.295		HGNC	p.R48L		APOBEC3F		SNV							ENST00000308521	protein_coding	getma.org/?cm=var&var=hg19,22,39439067,G,T&fts=all		Pfam_domain:PF08210,hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF24		R/L		T	neutral	500/2694		getma.org/?cm=msa&ty=f&p=ABC3F_HUMAN&rb=3&re=189&var=R48L	tolerated(0.41)	B4DGW8_HUMAN			YES	APOBEC3F,missense_variant,p.Arg48Leu,ENST00000308521,NM_145298.5;APOBEC3F,missense_variant,p.Arg48Leu,ENST00000381565,NM_001006666.1;APOBEC3G,intron_variant,,ENST00000452957,;APOBEC3F,non_coding_transcript_exon_variant,,ENST00000491387,;APOBEC3F,upstream_gene_variant,,ENST00000476513,;							MODERATE	143/1122	R48L	ABC3F_HUMAN			Transcript		benign(0)	.	ENSP00000309749		CCDS33648.1			1	
ARHGEF4	0	LGGM	GRCh37	2	131673455	131673455	+	upstream_gene_variant	5'Flank	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	3	.	.				ENST00000326016	NM_015320.3			0	1	1	UPI00001417F6	0		ENST00000326016		ENSG00000136002	684		20		769	HGNC	p.S316C		ARHGEF4		SNV							ENST00000409359	protein_coding							T		-/3656				Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN			YES	ARHGEF4,missense_variant,p.Ser316Cys,ENST00000409359,;ARHGEF4,upstream_gene_variant,,ENST00000392953,;ARHGEF4,upstream_gene_variant,,ENST00000525839,NM_032995.2;ARHGEF4,upstream_gene_variant,,ENST00000326016,NM_015320.3;ARHGEF4,upstream_gene_variant,,ENST00000428230,;ARHGEF4,upstream_gene_variant,,ENST00000438985,;ARHGEF4,downstream_gene_variant,,ENST00000526381,;							MODIFIER	-/2073		ARHG4_HUMAN			Transcript			.	ENSP00000316845		CCDS2165.1			1	
ERC1	0	LGGM	GRCh37	12	1481048	1481048	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	16	4	.	.	ENST00000397203.2:c.2830C>A	p.Leu944Ile	p.L944I	ENST00000397203		944	Ctc/Atc	0	1		UPI000007479C	0	NA	ENST00000360905		ENSG00000082805	17072		20	2.085		HGNC	p.L944I		ERC1		SNV			1				ENST00000397203	protein_coding	getma.org/?cm=var&var=hg19,12,1481048,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10174,hmmpanther:PTHR18861,hmmpanther:PTHR18861:SF1		L/I		A	medium	3011/5789		getma.org/?cm=msa&ty=f&p=RB6I2_HUMAN&rb=154&re=982&var=L944I	deleterious(0)	K7EKH8_HUMAN,K7EIZ7_HUMAN				ERC1,missense_variant,p.Leu944Ile,ENST00000397203,;ERC1,missense_variant,p.Leu916Ile,ENST00000543086,NM_178039.2;ERC1,missense_variant,p.Leu944Ile,ENST00000589028,NM_178040.2;ERC1,missense_variant,p.Leu944Ile,ENST00000355446,;ERC1,missense_variant,p.Leu944Ile,ENST00000360905,;ERC1,missense_variant,p.Leu948Ile,ENST00000546231,;ERC1,non_coding_transcript_exon_variant,,ENST00000543263,;ERC1,missense_variant,p.Leu920Ile,ENST00000440394,;ERC1,missense_variant,p.Leu876Ile,ENST00000347735,;ERC1,missense_variant,p.Leu904Ile,ENST00000542302,;ERC1,missense_variant,p.Leu648Ile,ENST00000545948,;ERC1,missense_variant,p.Leu213Ile,ENST00000588412,;ERC1,non_coding_transcript_exon_variant,,ENST00000538971,;							MODERATE	2830/3351	L944I	RB6I2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354158		CCDS8508.1			1	
SFXN3	0	LGGM	GRCh37	10	102798400	102798400	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	15	4	.	.	ENST00000224807.5:c.784C>T	p.Arg262Cys	p.R262C	ENST00000224807	NM_030971.3	262	Cgc/Tgc	0	1	1	UPI000006EE3D	0	NA	ENST00000224807		ENSG00000107819	16087		19	2.72		HGNC	p.R258C		SFXN3		SNV							ENST00000393459	protein_coding	getma.org/?cm=var&var=hg19,10,102798400,C,T&fts=all		hmmpanther:PTHR11153:SF20,hmmpanther:PTHR11153,Pfam_domain:PF03820,TIGRFAM_domain:TIGR00798		R/C		T	medium	1240/3089	3.01E-05	getma.org/?cm=msa&ty=f&p=SFXN3_HUMAN&rb=19&re=325&var=R262C	deleterious(0.05)				YES	SFXN3,missense_variant,p.Arg258Cys,ENST00000393459,;SFXN3,missense_variant,p.Arg262Cys,ENST00000224807,NM_030971.3;SFXN3,non_coding_transcript_exon_variant,,ENST00000466982,;SFXN3,non_coding_transcript_exon_variant,,ENST00000470252,;SFXN3,downstream_gene_variant,,ENST00000487721,;SFXN3,downstream_gene_variant,,ENST00000465383,;SFXN3,downstream_gene_variant,,ENST00000489434,;	0.000116						MODERATE	784/978	R262C	SFXN3_HUMAN			Transcript		benign(0.095)	.	ENSP00000224807	2.47E-05	CCDS7508.2			1	
SEMA5A	0	LGGM	GRCh37	5	9063217	9063217	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	11	4	.	.	ENST00000382496.5:c.2300G>T	p.Gly767Val	p.G767V	ENST00000382496	NM_003966.2	767	gGg/gTg	0	1	1	UPI000004F25D	0	NA	ENST00000382496		ENSG00000112902	10736		15	0.345		HGNC	p.G767V		SEMA5A		SNV			1				ENST00000382496	protein_coding	getma.org/?cm=var&var=hg19,5,9063217,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF78		G/V		A	neutral	2966/11762		getma.org/?cm=msa&ty=f&p=SEM5A_HUMAN&rb=702&re=787&var=G767V	deleterious(0.03)	D6RAF4_HUMAN,B4DE33_HUMAN			YES	SEMA5A,missense_variant,p.Gly767Val,ENST00000382496,NM_003966.2;							MODERATE	2300/3225	G767V	SEM5A_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000371936		CCDS3875.1			1	
CSMD2	0	LGGM	GRCh37	1	34046454	34046454	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	26	4	.	.	ENST00000241312.4:c.7292A>C	p.Tyr2431Ser	p.Y2431S	ENST00000241312		2431	tAc/tCc	0	1	1	UPI00004561AB	0	getma.org/pdb.php?prot=CSMD2_HUMAN&from=2355&to=2463&var=Y2431S	ENST00000241312		ENSG00000121904	19290		30	0.815		HGNC	p.Y2429S		CSMD2		SNV							ENST00000373381	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,1,34046454,T,G&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF334,SMART_domains:SM00042,Superfamily_domains:SSF49854		Y/S		G	low	7321/13108		getma.org/?cm=msa&ty=f&p=CSMD2_HUMAN&rb=2355&re=2463&var=Y2431S	deleterious(0.03)				YES	CSMD2,missense_variant,p.Tyr2429Ser,ENST00000373381,NM_052896.3,NM_001281956.1;CSMD2,missense_variant,p.Tyr2431Ser,ENST00000241312,;							MODERATE	7292/10464	Y2431S	CSMD2_HUMAN			Transcript		possibly_damaging(0.881)	.	ENSP00000241312		CCDS380.1			1	
COL4A3	0	LGGM	GRCh37	2	228142266	228142266	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	10	4	.	.	ENST00000396578.3:c.2122A>C	p.Lys708Gln	p.K708Q	ENST00000396578	NM_000091.4	708	Aag/Cag	0	1	1	UPI000013E9F3	0	NA	ENST00000396578		ENSG00000169031	2204		14	1.63		HGNC	p.K708Q		COL4A3		SNV			1				ENST00000396578	protein_coding	getma.org/?cm=var&var=hg19,2,228142266,A,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF417,hmmpanther:PTHR24023,Pfam_domain:PF01391		K/Q		C	low	2284/8097		getma.org/?cm=msa&ty=f&p=CO4A3_HUMAN&rb=699&re=749&var=K708Q		Q548X1_HUMAN,A9QVI3_HUMAN			YES	COL4A3,missense_variant,p.Lys708Gln,ENST00000396578,NM_000091.4;AC097662.2,intron_variant,,ENST00000439598,;AC097662.2,intron_variant,,ENST00000396588,;AC097662.2,intron_variant,,ENST00000433324,;							MODERATE	2122/5013	K708Q	CO4A3_HUMAN			Transcript		unknown(0)	.	ENSP00000379823		CCDS42829.1			1	
NOBOX	0	LGGM	GRCh37	7	144095500	144095500	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	8	4	.	.	ENST00000467773.1:c.1649C>T	p.Thr550Met	p.T550M	ENST00000467773	NM_001080413.3	550	aCg/aTg	0	1	1	UPI00019B220B	0	NA	ENST00000467773		ENSG00000106410	22448		12	0.895		HGNC	p.T518M	rs370203452	NOBOX		SNV	A:0		1				ENST00000483238	protein_coding	getma.org/?cm=var&var=hg19,7,144095500,G,A&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF282		T/M	A:0.0006	A	low	1649/2076	0.000279	getma.org/?cm=msa&ty=f&p=NOBOX_HUMAN&rb=381&re=687&var=T550M	tolerated(0.09)				YES	NOBOX,missense_variant,p.Thr550Met,ENST00000467773,NM_001080413.3;NOBOX,missense_variant,p.Thr518Met,ENST00000483238,;NOBOX,missense_variant,p.Thr433Met,ENST00000223140,;							MODERATE	1649/2076	T550M	NOBOX_HUMAN			Transcript		benign(0.02)	.	ENSP00000419457	4.03E-05				1	
POU4F3	0	LGGM	GRCh37	5	145719610	145719610	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	38	4	.	.	ENST00000230732.4:c.620A>G	p.Asp207Gly	p.D207G	ENST00000230732	NM_002700.2	207	gAc/gGc	0	1	1	UPI0000131D91	0	getma.org/pdb.php?prot=PO4F3_HUMAN&from=179&to=256&var=D207G	ENST00000230732		ENSG00000091010	9220		42	3.105		HGNC	p.D207G	rs547904106	POU4F3	6.06E-05	SNV			1				ENST00000230732	protein_coding	getma.org/?cm=var&var=hg19,5,145719610,A,G&fts=all	G:0	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		D/G		G	medium	709/1182		getma.org/?cm=msa&ty=f&p=PO4F3_HUMAN&rb=179&re=256&var=D207G	deleterious(0)		G:0	G:0	YES	POU4F3,missense_variant,p.Asp207Gly,ENST00000230732,NM_002700.2;RBM27,downstream_gene_variant,,ENST00000506502,;CTC-359M8.1,intron_variant,,ENST00000515598,;		G:0.0002					MODERATE	620/1017	D207G	PO4F3_HUMAN		G:0	Transcript		probably_damaging(0.999)	.	ENSP00000230732	8.24E-06	CCDS4281.1		G:0.001	1	
CCDC105	0	LGGM	GRCh37	19	15132286	15132286	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	16	4	.	.	ENST00000292574.3:c.996G>A	p.Val332=	p.V332=	ENST00000292574	NM_173482.2	332	gtG/gtA	0	1	1	UPI0000073091	0		ENST00000292574		ENSG00000160994	26866		20			HGNC	p.V332V	rs775842809	CCDC105		SNV							ENST00000292574	protein_coding			Pfam_domain:PF03148		V		A		1078/1732							YES	CCDC105,synonymous_variant,p.=,ENST00000292574,NM_173482.2;SLC1A6,intron_variant,,ENST00000595863,;							LOW	996/1500		CC105_HUMAN			Transcript			.	ENSP00000292574		CCDS12322.1			1	
COL5A1	0	LGGM	GRCh37	9	137703384	137703384	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	4	4	.	.	ENST00000371817.3:c.3629G>A	p.Gly1210Glu	p.G1210E	ENST00000371817	NM_001278074.1	1210	gGg/gAg	0	1	1	UPI0000210EE3	0	getma.org/pdb.php?prot=CO5A1_HUMAN&from=1011&to=1210&var=G1210E	ENST00000371817		ENSG00000130635	2209		8	2.695		HGNC	p.G1210E		COL5A1		SNV			1				ENST00000371817	protein_coding	getma.org/?cm=var&var=hg19,9,137703384,G,A&fts=all		hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023		G/E		A	medium	4043/8468		getma.org/?cm=msa&ty=f&p=CO5A1_HUMAN&rb=1011&re=1210&var=G1210E		Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN			YES	COL5A1,missense_variant,p.Gly1210Glu,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,downstream_gene_variant,,ENST00000463925,;							MODERATE	3629/5517	G1210E	CO5A1_HUMAN			Transcript		unknown(0)	.	ENSP00000360882		CCDS6982.1			1	
KLHL31	0	LGGM	GRCh37	6	53519872	53519872	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	42	4	.	.	ENST00000370905.3:c.199C>T	p.Arg67Trp	p.R67W	ENST00000370905	NM_001003760.4	67	Cgg/Tgg	0	1	1	UPI000006D624	0	getma.org/pdb.php?prot=KLH31_HUMAN&from=63&to=167&var=R67W	ENST00000370905		ENSG00000124743	21353		46	3.32		HGNC	p.R67W	COSM1212643	KLHL31		SNV						1	ENST00000370905	protein_coding	getma.org/?cm=var&var=hg19,6,53519872,G,A&fts=all		hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF58,Pfam_domain:PF00651,Gene3D:3.30.710.10,PIRSF_domain:PIRSF037037,Superfamily_domains:SSF54695		R/W		A	medium	340/5743		getma.org/?cm=msa&ty=f&p=KLH31_HUMAN&rb=63&re=167&var=R67W	deleterious(0)				YES	KLHL31,missense_variant,p.Arg67Trp,ENST00000370905,NM_001003760.4;KLHL31,missense_variant,p.Arg67Trp,ENST00000407079,;					1		MODERATE	199/1905	R67W	KLH31_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000359942		CCDS34478.1			1	
HHATL	0	LGGM	GRCh37	3	42735221	42735221	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	11	5	.	.	ENST00000441594.1:c.1136G>A	p.Trp379Ter	p.W379*	ENST00000441594	NM_020707.3	379	tGg/tAg	0	1		UPI000012DC51	0	NA	ENST00000310417		ENSG00000010282	13242		16	0		HGNC	p.W379X		HHATL		SNV							ENST00000441594	protein_coding	getma.org/?cm=var&var=hg19,3,42735221,C,T&fts=all		hmmpanther:PTHR13285,hmmpanther:PTHR13285:SF19,Pfam_domain:PF03062		W/*		T	NA	1283/1750		NA		C9JL39_HUMAN,C9JHL0_HUMAN,C9JEF1_HUMAN				HHATL,stop_gained,p.Trp379Ter,ENST00000441594,NM_020707.3;HHATL,stop_gained,p.Trp379Ter,ENST00000310417,;HHATL,intron_variant,,ENST00000426666,;KLHL40,downstream_gene_variant,,ENST00000287777,NM_152393.3;HHATL,downstream_gene_variant,,ENST00000457462,;HHATL,downstream_gene_variant,,ENST00000416756,;HHATL,downstream_gene_variant,,ENST00000455195,;HHATL,downstream_gene_variant,,ENST00000417472,;CCDC13,intron_variant,,ENST00000479631,;CCDC13,downstream_gene_variant,,ENST00000496027,;HHATL,non_coding_transcript_exon_variant,,ENST00000480939,;HHATL,non_coding_transcript_exon_variant,,ENST00000466007,;HHATL,upstream_gene_variant,,ENST00000490003,;							HIGH	1136/1515	W379*	HHATL_HUMAN			Transcript			.	ENSP00000310621		CCDS2704.1			1	
SLC4A9	0	LGGM	GRCh37	5	139744047	139744047	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	15	5	.	.	ENST00000230993.6:c.1560G>A	p.Val520=	p.V520=	ENST00000230993	NM_001258428.1	520	gtG/gtA	0	1		UPI000018336F	0		ENST00000507527		ENSG00000113073	11035		20			HGNC	p.V496V		SLC4A9		SNV							ENST00000506545	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF33,TIGRFAM_domain:TIGR00834,Pfam_domain:PF00955,Prints_domain:PR01232,Prints_domain:PR01231		V		A		1582/3258								SLC4A9,synonymous_variant,p.=,ENST00000230993,NM_001258428.1;SLC4A9,synonymous_variant,p.=,ENST00000506757,NM_031467.2,NM_001258426.1;SLC4A9,synonymous_variant,p.=,ENST00000507527,;SLC4A9,synonymous_variant,p.=,ENST00000432095,;SLC4A9,synonymous_variant,p.=,ENST00000506545,NM_001258427.1;SLC4A9,upstream_gene_variant,,ENST00000514849,;							LOW	1560/2952		B3A4_HUMAN			Transcript			.	ENSP00000427661		CCDS58973.1			1	
SEC24B	0	LGGM	GRCh37	4	110384150	110384150	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	48	5	.	.	ENST00000265175.5:c.227G>T	p.Gly76Val	p.G76V	ENST00000265175	NM_006323.2	76	gGg/gTg	0	1	1	UPI00004F6ED7	0	NA	ENST00000265175		ENSG00000138802	10704		53	0.55		HGNC	p.G107V		SEC24B		SNV							ENST00000504968	protein_coding	getma.org/?cm=var&var=hg19,4,110384150,G,T&fts=all				G/V		T	neutral	282/5083		getma.org/?cm=msa&ty=f&p=SC24B_HUMAN&rb=1&re=200&var=G76V	deleterious_low_confidence(0)	B4E2E1_HUMAN			YES	SEC24B,missense_variant,p.Gly76Val,ENST00000265175,NM_006323.2;SEC24B,missense_variant,p.Gly107Val,ENST00000504968,;SEC24B,missense_variant,p.Gly76Val,ENST00000399100,NM_001042734.1;							MODERATE	227/3807	G76V	SC24B_HUMAN			Transcript		benign(0.355)	.	ENSP00000265175		CCDS47124.1			1	
TENM4	0	LGGM	GRCh37	11	78372507	78372507	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	5	.	.	ENST00000278550.7:c.7538G>A	p.Trp2513Ter	p.W2513*	ENST00000278550	NM_001098816.2	2513	tGg/tAg	0	1	1	UPI0000DD8112	0	NA	ENST00000278550		ENSG00000149256	29945		22	0		HGNC	p.W2513X		TENM4		SNV							ENST00000278550	protein_coding	getma.org/?cm=var&var=hg19,11,78372507,C,T&fts=all		hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		W/*		T	NA	8001/14000		NA		G3CAT1_HUMAN			YES	TENM4,stop_gained,p.Trp2513Ter,ENST00000278550,NM_001098816.2;TENM4,intron_variant,,ENST00000530738,;							HIGH	7538/8310	W2513*	TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
TRIM58	0	LGGM	GRCh37	1	248031299	248031299	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	7	5	.	.	ENST00000366481.3:c.805A>T	p.Ile269Phe	p.I269F	ENST00000366481	NM_015431.3	269	Atc/Ttc	0	1	1	UPI000020590E	0	NA	ENST00000366481		ENSG00000162722	24150		12	1.365		HGNC	p.I269F		TRIM58		SNV							ENST00000366481	protein_coding	getma.org/?cm=var&var=hg19,1,248031299,A,T&fts=all		hmmpanther:PTHR24103:SF235,hmmpanther:PTHR24103		I/F		T	low	853/3225		getma.org/?cm=msa&ty=f&p=TRI58_HUMAN&rb=133&re=292&var=I269F	deleterious(0.03)				YES	TRIM58,missense_variant,p.Ile269Phe,ENST00000366481,NM_015431.3;OR2W3,5_prime_UTR_variant,,ENST00000537741,;							MODERATE	805/1461	I269F	TRI58_HUMAN			Transcript		benign(0.379)	.	ENSP00000355437		CCDS1636.1			1	
ENTREP3	0	LGGM	GRCh37	1	155220922	155220922	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	11	5	.	.	ENST00000361361.2:c.928T>C	p.Ser310Pro	p.S310P	ENST00000361361	NM_006589.2	310	Tcg/Ccg	0	1	1	UPI00000710DE	0	NA	ENST00000361361		ENSG00000160767	1233		16	1.32		HGNC	p.S310P		FAM189B		SNV							ENST00000361361	protein_coding	getma.org/?cm=var&var=hg19,1,155220922,A,G&fts=all		hmmpanther:PTHR17615,hmmpanther:PTHR17615:SF7		S/P		G	low	1438/3082		getma.org/?cm=msa&ty=f&p=F189B_HUMAN&rb=197&re=396&var=S310P	deleterious(0.03)				YES	FAM189B,missense_variant,p.Ser310Pro,ENST00000361361,NM_006589.2;FAM189B,missense_variant,p.Ser292Pro,ENST00000368368,NM_001267608.1;FAM189B,missense_variant,p.Ser214Pro,ENST00000350210,NM_198264.1;FAM189B,missense_variant,p.Ser214Pro,ENST00000491082,;SCAMP3,downstream_gene_variant,,ENST00000355379,NM_052837.2;SCAMP3,downstream_gene_variant,,ENST00000302631,NM_005698.3;FAM189B,non_coding_transcript_exon_variant,,ENST00000472550,;SCAMP3,downstream_gene_variant,,ENST00000472397,;SCAMP3,downstream_gene_variant,,ENST00000478737,;FAM189B,non_coding_transcript_exon_variant,,ENST00000368366,;FAM189B,non_coding_transcript_exon_variant,,ENST00000497941,;FAM189B,intron_variant,,ENST00000487649,;FAM189B,downstream_gene_variant,,ENST00000481822,;							MODERATE	928/2007	S310P	F189B_HUMAN			Transcript		benign(0.002)	.	ENSP00000354958		CCDS1103.1			1	
CPZ	0	LGGM	GRCh37	4	8616216	8616216	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	11	5	.	.	ENST00000360986.4:c.1494C>T	p.Phe498=	p.F498=	ENST00000360986	NM_001014447.2	498	ttC/ttT	0	1	1	UPI000020BCC5	0		ENST00000360986		ENSG00000109625	2333		16			HGNC	p.F106F	rs757742012	CPZ		SNV							ENST00000429646	protein_coding			Superfamily_domains:SSF53187,SMART_domains:SM00631,Gene3D:3.40.630.10,hmmpanther:PTHR11532:SF4,hmmpanther:PTHR11532		F		T		1668/2267	6.07E-05						YES	CPZ,synonymous_variant,p.=,ENST00000429646,;CPZ,synonymous_variant,p.=,ENST00000382480,NM_001014448.2;CPZ,synonymous_variant,p.=,ENST00000360986,NM_001014447.2;CPZ,synonymous_variant,p.=,ENST00000315782,NM_003652.3;GPR78,3_prime_UTR_variant,,ENST00000514302,;CPZ,3_prime_UTR_variant,,ENST00000515606,;GPR78,non_coding_transcript_exon_variant,,ENST00000513120,;CPZ,upstream_gene_variant,,ENST00000513486,;							LOW	1494/1959		CBPZ_HUMAN			Transcript			.	ENSP00000354255	4.12E-05	CCDS33953.1	0.00112		1	
LSR	0	LGGM	GRCh37	19	35739853	35739853	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	5	.	.	ENST00000361790.3:c.72G>A	p.Trp24Ter	p.W24*	ENST00000361790	NM_205834.3	24	tgG/tgA	0	1	1	UPI000003117A	0	NA	ENST00000361790		ENSG00000105699	29572		22	0		HGNC	p.W24X		LSR		SNV							ENST00000602003	protein_coding	getma.org/?cm=var&var=hg19,19,35739853,G,A&fts=all				W/*		A	NA	231/2210		NA					YES	LSR,stop_gained,p.Trp24Ter,ENST00000602122,;LSR,stop_gained,p.Trp24Ter,ENST00000361790,NM_205834.3;LSR,stop_gained,p.Trp24Ter,ENST00000354900,NM_015925.6,NM_001260489.1;LSR,stop_gained,p.Trp24Ter,ENST00000360798,NM_205835.3;LSR,stop_gained,p.Trp24Ter,ENST00000347609,;LSR,stop_gained,p.Trp24Ter,ENST00000602003,;LSR,upstream_gene_variant,,ENST00000605618,NM_001260490.1;LSR,upstream_gene_variant,,ENST00000427250,;LSR,upstream_gene_variant,,ENST00000601623,;LSR,upstream_gene_variant,,ENST00000599658,;AC002128.5,downstream_gene_variant,,ENST00000604161,;LSR,intron_variant,,ENST00000597933,;LSR,upstream_gene_variant,,ENST00000602044,;							HIGH	72/1950	W24*	LSR_HUMAN			Transcript			.	ENSP00000354575		CCDS12450.1			1	
PARD6G	0	LGGM	GRCh37	18	77960782	77960782	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	22	6	.	.	ENST00000353265.3:c.106C>A	p.Arg36Ser	p.R36S	ENST00000353265	NM_032510.3	36	Cgt/Agt	0	1	1	UPI000006DC0F	0	getma.org/pdb.php?prot=PAR6G_HUMAN&from=18&to=98&var=R36S	ENST00000353265		ENSG00000178184	16076		28	2.095		HGNC	p.R36S		PARD6G		SNV							ENST00000470488	protein_coding	getma.org/?cm=var&var=hg19,18,77960782,G,T&fts=all		hmmpanther:PTHR14102,hmmpanther:PTHR14102:SF3,Pfam_domain:PF00564,Gene3D:3.10.20.240,SMART_domains:SM00666,Superfamily_domains:SSF54277		R/S		T	medium	304/3868		getma.org/?cm=msa&ty=f&p=PAR6G_HUMAN&rb=18&re=98&var=R36S	deleterious(0.02)				YES	PARD6G,missense_variant,p.Arg36Ser,ENST00000353265,NM_032510.3;PARD6G,missense_variant,p.Arg36Ser,ENST00000470488,;PARD6G,upstream_gene_variant,,ENST00000463384,;AC139100.3,non_coding_transcript_exon_variant,,ENST00000588950,;							MODERATE	106/1131	R36S	PAR6G_HUMAN			Transcript		possibly_damaging(0.715)	.	ENSP00000343144		CCDS12022.1			1	
WAS	0	LGGM	GRCh37	X	48544343	48544343	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	27	6	.	.	ENST00000376701.4:c.472C>T	p.Gln158Ter	p.Q158*	ENST00000376701	NM_000377.2	158	Cag/Tag	0	1	1	UPI000003CA0A	0	NA	ENST00000376701		ENSG00000015285	12731		33	0		HGNC	p.Q158X		WAS		SNV			1				ENST00000376701	protein_coding	getma.org/?cm=var&var=hg19,X,48544343,C,T&fts=all		hmmpanther:PTHR12779:SF2,hmmpanther:PTHR12779		Q/*		T	NA	547/1849		NA		C9J3B7_HUMAN			YES	WAS,stop_gained,p.Gln158Ter,ENST00000376701,NM_000377.2;WAS,stop_gained,p.Gln158Ter,ENST00000450772,;WAS,non_coding_transcript_exon_variant,,ENST00000483750,;WAS,non_coding_transcript_exon_variant,,ENST00000490627,;WAS,intron_variant,,ENST00000465982,;WAS,upstream_gene_variant,,ENST00000474174,;WAS,upstream_gene_variant,,ENST00000470107,;							HIGH	472/1509	Q158*	WASP_HUMAN			Transcript			.	ENSP00000365891		CCDS14303.1			1	
OXR1	0	LGGM	GRCh37	8	107696486	107696486	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	154	6	.	.	ENST00000442977.2:c.427C>A	p.Pro143Thr	p.P143T	ENST00000442977	NM_001198532.1	143	Cct/Act	0	1	1	UPI0001914BEA	0	NA	ENST00000442977		ENSG00000164830	15822		160	2.6		HGNC	p.P142T		OXR1		SNV							ENST00000445937	protein_coding	getma.org/?cm=var&var=hg19,8,107696486,C,A&fts=all		Gene3D:3.10.350.10,Pfam_domain:PF01476,hmmpanther:PTHR23354,hmmpanther:PTHR23354:SF69,Low_complexity_(Seg):seg,SMART_domains:SM00257,Superfamily_domains:SSF54106		P/T		A	medium	526/2956		getma.org/?cm=msa&ty=f&p=OXR1_HUMAN&rb=101&re=143&var=P143T	deleterious(0)	E9PLW2_HUMAN			YES	OXR1,missense_variant,p.Pro142Thr,ENST00000445937,NM_018002.3;OXR1,missense_variant,p.Pro142Thr,ENST00000517566,NM_001198533.1;OXR1,missense_variant,p.Pro135Thr,ENST00000312046,NM_181354.4;OXR1,missense_variant,p.Pro142Thr,ENST00000531443,;OXR1,missense_variant,p.Pro143Thr,ENST00000442977,NM_001198532.1;OXR1,missense_variant,p.Pro75Thr,ENST00000497705,;OXR1,missense_variant,p.Pro73Thr,ENST00000517686,;OXR1,5_prime_UTR_variant,,ENST00000452423,;OXR1,non_coding_transcript_exon_variant,,ENST00000517455,;OXR1,3_prime_UTR_variant,,ENST00000438229,;OXR1,intron_variant,,ENST00000435082,;							MODERATE	427/2625	P143T	OXR1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000405424		CCDS56548.1			1	
SLC26A9	0	LGGM	GRCh37	1	205893535	205893535	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	16	6	.	.	ENST00000367134.2:c.1472T>C	p.Leu491Pro	p.L491P	ENST00000367134	NM_134325.2	491	cTg/cCg	0	1		UPI000014028B	0	NA	ENST00000367135		ENSG00000174502	14469		22	2.795		HGNC	p.L491P	rs769532823	SLC26A9		SNV				9.67E-05			ENST00000340781	protein_coding	getma.org/?cm=var&var=hg19,1,205893535,A,G&fts=all		hmmpanther:PTHR11814,hmmpanther:PTHR11814:SF17,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00815,Transmembrane_helices:TMhelix		L/P		G	medium	1586/4799		getma.org/?cm=msa&ty=f&p=S26A9_HUMAN&rb=466&re=519&var=L491P	deleterious(0)					SLC26A9,missense_variant,p.Leu491Pro,ENST00000367135,NM_052934.3;SLC26A9,missense_variant,p.Leu491Pro,ENST00000367134,NM_134325.2;SLC26A9,missense_variant,p.Leu491Pro,ENST00000340781,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,;SLC26A9,non_coding_transcript_exon_variant,,ENST00000461505,;SLC26A9,downstream_gene_variant,,ENST00000469392,;							MODERATE	1472/2376	L491P	S26A9_HUMAN			Transcript		benign(0.049)	.	ENSP00000356103	8.24E-06	CCDS30990.1			1	
GFER	0	LGGM	GRCh37	16	2034863	2034863	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	5	6	.	.	ENST00000248114.6:c.374A>G	p.Gln125Arg	p.Q125R	ENST00000248114	NM_005262.2	125	cAg/cGg	0	1	1	UPI0000140A12	0	getma.org/pdb.php?prot=ALR_HUMAN&from=104&to=197&var=Q125R	ENST00000248114		ENSG00000127554	4236		11	3.035		HGNC	p.Q112R		GFER		SNV			1				ENST00000561710	protein_coding	getma.org/?cm=var&var=hg19,16,2034863,A,G&fts=all		PROSITE_profiles:PS51324,hmmpanther:PTHR12645:SF0,hmmpanther:PTHR12645,Pfam_domain:PF04777,Gene3D:1.20.120.310,Superfamily_domains:SSF69000		Q/R		G	medium	380/2345		getma.org/?cm=msa&ty=f&p=ALR_HUMAN&rb=104&re=197&var=Q125R	deleterious(0)	H3BRD2_HUMAN			YES	GFER,missense_variant,p.Gln125Arg,ENST00000248114,NM_005262.2;GFER,missense_variant,p.Gln50Arg,ENST00000567719,;GFER,missense_variant,p.Gln112Arg,ENST00000561710,;GFER,intron_variant,,ENST00000569451,;TBL3,downstream_gene_variant,,ENST00000568546,NM_006453.2;NOXO1,upstream_gene_variant,,ENST00000354249,NM_172168.2,NM_001267721.1,NM_172167.2,NM_144603.3;NOXO1,upstream_gene_variant,,ENST00000356120,;AC005606.1,downstream_gene_variant,,ENST00000598236,;NOXO1,upstream_gene_variant,,ENST00000397280,;NOXO1,upstream_gene_variant,,ENST00000566005,;SYNGR3,upstream_gene_variant,,ENST00000563869,;NOXO1,upstream_gene_variant,,ENST00000567471,;AC005606.14,downstream_gene_variant,,ENST00000564438,;AC005606.14,downstream_gene_variant,,ENST00000565041,;GFER,non_coding_transcript_exon_variant,,ENST00000565658,;NOXO1,upstream_gene_variant,,ENST00000563181,;							MODERATE	374/618	Q125R	ALR_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000248114		CCDS32368.1			1	
COMMD4	0	LGGM	GRCh37	15	75632041	75632041	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	21	7	.	.	ENST00000267935.8:c.383-2A>T		p.X128_splice	ENST00000267935	NM_017828.3			0	1	1	UPI000004A01C	0		ENST00000267935		ENSG00000140365	26027		28			HGNC	-		COMMD4		SNV							ENST00000267935	protein_coding							T		-/1067							YES	COMMD4,splice_acceptor_variant,,ENST00000267935,NM_017828.3;COMMD4,splice_acceptor_variant,,ENST00000568301,;COMMD4,splice_acceptor_variant,,ENST00000564815,;COMMD4,splice_acceptor_variant,,ENST00000567377,;COMMD4,intron_variant,,ENST00000562789,NM_001284379.1;COMMD4,intron_variant,,ENST00000338995,NM_001284377.1;COMMD4,intron_variant,,ENST00000567195,NM_001284378.1;COMMD4,downstream_gene_variant,,ENST00000561662,;COMMD4,splice_acceptor_variant,,ENST00000480484,;COMMD4,splice_acceptor_variant,,ENST00000569245,;COMMD4,splice_acceptor_variant,,ENST00000562610,;COMMD4,splice_acceptor_variant,,ENST00000562310,;COMMD4,splice_acceptor_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,intron_variant,,ENST00000567935,;COMMD4,downstream_gene_variant,,ENST00000568034,;COMMD4,downstream_gene_variant,,ENST00000567399,;COMMD4,downstream_gene_variant,,ENST00000567023,;COMMD4,downstream_gene_variant,,ENST00000568877,;COMMD4,downstream_gene_variant,,ENST00000564587,;COMMD4,downstream_gene_variant,,ENST00000565517,;COMMD4,downstream_gene_variant,,ENST00000566230,;							HIGH	383/600		COMD4_HUMAN			Transcript			.	ENSP00000267935		CCDS10277.1			1	
COL11A1	0	LGGM	GRCh37	1	103377770	103377770	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	5	7	.	.	ENST00000370096.3:c.4033-2A>T		p.X1345_splice	ENST00000370096	NM_001854.3			0	1	1	UPI00002053EF	0		ENST00000370096		ENSG00000060718	2186		12			HGNC	-		COL11A1		SNV			1				ENST00000353414	protein_coding							A		-/7286				Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,splice_acceptor_variant,,ENST00000358392,NM_080629.2;COL11A1,splice_acceptor_variant,,ENST00000370096,NM_001854.3;COL11A1,splice_acceptor_variant,,ENST00000353414,NM_001190709.1;COL11A1,splice_acceptor_variant,,ENST00000512756,NM_080630.3;							HIGH	4033/5421		COBA1_HUMAN			Transcript			.	ENSP00000359114		CCDS778.1			1	
FAM160B2	0	LGGM	GRCh37	8	21959237	21959237	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	7	.	.	ENST00000289921.7:c.1726C>T	p.Arg576Cys	p.R576C	ENST00000289921	NM_022749.5	576	Cgc/Tgc	0	1	1	UPI00006C5119	0	NA	ENST00000289921		ENSG00000158863	16492		24	1.78		HGNC	p.R576C	rs780495400	FAM160B2	0.000141	SNV							ENST00000450006	protein_coding	getma.org/?cm=var&var=hg19,8,21959237,C,T&fts=all		hmmpanther:PTHR21705,hmmpanther:PTHR21705:SF7		R/C		T	low	1772/4245		getma.org/?cm=msa&ty=f&p=F16B2_HUMAN&rb=477&re=676&var=R576C	tolerated(0.18)				YES	FAM160B2,missense_variant,p.Arg576Cys,ENST00000289921,NM_022749.5;FAM160B2,missense_variant,p.Arg576Cys,ENST00000450006,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000496599,;FAM160B2,non_coding_transcript_exon_variant,,ENST00000477614,;FAM160B2,downstream_gene_variant,,ENST00000488968,;FAM160B2,downstream_gene_variant,,ENST00000427751,;FAM160B2,downstream_gene_variant,,ENST00000498344,;FAM160B2,downstream_gene_variant,,ENST00000464226,;FAM160B2,downstream_gene_variant,,ENST00000491733,;FAM160B2,upstream_gene_variant,,ENST00000523633,;FAM160B2,downstream_gene_variant,,ENST00000462914,;FAM160B2,downstream_gene_variant,,ENST00000474579,;AC091171.1,upstream_gene_variant,,ENST00000436711,;							MODERATE	1726/2232	R576C	F16B2_HUMAN			Transcript		possibly_damaging(0.772)	.	ENSP00000289921	1.66E-05	CCDS6021.2			1	
VWC2	0	LGGM	GRCh37	7	49842368	49842368	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	27	7	.	.	ENST00000340652.4:c.758C>G	p.Ala253Gly	p.A253G	ENST00000340652	NM_198570.3	253	gCg/gGg	0	1	1	UPI00002373A5	0	NA	ENST00000340652		ENSG00000188730	30200	8.64E-05	34	0.75		HGNC	p.A253G	rs762722654	VWC2		SNV							ENST00000340652	protein_coding	getma.org/?cm=var&var=hg19,7,49842368,C,G&fts=all		PROSITE_profiles:PS50184,hmmpanther:PTHR11339:SF258,hmmpanther:PTHR11339,PROSITE_patterns:PS01208,Pfam_domain:PF00093,SMART_domains:SM00214,Superfamily_domains:SSF57603		A/G		G	neutral	1314/11299		getma.org/?cm=msa&ty=f&p=VWC2_HUMAN&rb=218&re=273&var=A253G	tolerated(0.26)				YES	VWC2,missense_variant,p.Ala253Gly,ENST00000340652,NM_198570.3;							MODERATE	758/978	A253G	VWC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000341819	8.24E-06	CCDS5508.1			1	
TIAM2	0	LGGM	GRCh37	6	155458325	155458325	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	20	7	.	.	ENST00000461783.3:c.1209G>A	p.Lys403=	p.K403=	ENST00000461783		403	aaG/aaA	0	1		UPI00004DF8BE	0		ENST00000318981		ENSG00000146426	11806		27			HGNC	p.K403K		TIAM2		SNV							ENST00000528535	protein_coding			hmmpanther:PTHR22826,hmmpanther:PTHR22826:SF118		K		A		1417/5916				F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,synonymous_variant,p.=,ENST00000461783,;TIAM2,synonymous_variant,p.=,ENST00000456144,;TIAM2,synonymous_variant,p.=,ENST00000318981,NM_012454.3;TIAM2,synonymous_variant,p.=,ENST00000360366,;TIAM2,synonymous_variant,p.=,ENST00000529824,;TIAM2,synonymous_variant,p.=,ENST00000528535,;TIAM2,5_prime_UTR_variant,,ENST00000367174,;							LOW	1209/5106		TIAM2_HUMAN			Transcript			.	ENSP00000327315		CCDS34558.1			1	
CTDSPL2	0	LGGM	GRCh37	15	44816308	44816308	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	20	7	.	.	ENST00000260327.4:c.1337A>G	p.Asn446Ser	p.N446S	ENST00000260327	NM_016396.2	446	aAt/aGt	0	1	1	UPI000004A0B3	0	getma.org/pdb.php?prot=CTSL2_HUMAN&from=288&to=450&var=N446S	ENST00000260327		ENSG00000137770	26936		27	0.525		HGNC	p.N446S		CTDSPL2		SNV							ENST00000558966	protein_coding	getma.org/?cm=var&var=hg19,15,44816308,A,G&fts=all		hmmpanther:PTHR12210,Gene3D:3.40.50.1000,TIGRFAM_domain:TIGR02251,Pfam_domain:PF03031,Superfamily_domains:SSF56784		N/S		G	neutral	1900/6828		getma.org/?cm=msa&ty=f&p=CTSL2_HUMAN&rb=288&re=450&var=N446S	deleterious(0.05)	H0YNW9_HUMAN,H0YNU2_HUMAN,H0YMH7_HUMAN			YES	CTDSPL2,missense_variant,p.Asn446Ser,ENST00000260327,NM_016396.2;CTDSPL2,missense_variant,p.Asn374Ser,ENST00000396780,;CTDSPL2,missense_variant,p.Asn374Ser,ENST00000558373,;CTDSPL2,missense_variant,p.Asn446Ser,ENST00000558966,;EIF3J-AS1,downstream_gene_variant,,ENST00000560750,;CTDSPL2,splice_region_variant,,ENST00000559738,;CTDSPL2,splice_region_variant,,ENST00000559175,;CTDSPL2,downstream_gene_variant,,ENST00000560620,;							MODERATE	1337/1401	N446S	CTSL2_HUMAN			Transcript		benign(0.158)	.	ENSP00000260327		CCDS10110.1			1	
SPTB	0	LGGM	GRCh37	14	65242000	65242000	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	14	7	.	.	ENST00000389722.3:c.4685T>A	p.Leu1562Gln	p.L1562Q	ENST00000389722	NM_001024858.2	1562	cTg/cAg	0	1		UPI000053030C	0	getma.org/pdb.php?prot=SPTB1_HUMAN&from=1478&to=1582&var=L1562Q	ENST00000389721		ENSG00000070182	11274		21	3.21		HGNC	p.L227Q		SPTB		SNV			1				ENST00000553938	protein_coding	getma.org/?cm=var&var=hg19,14,65242000,A,T&fts=all		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF248,SMART_domains:SM00150,Superfamily_domains:SSF46966		L/Q		T	medium	4718/6705		getma.org/?cm=msa&ty=f&p=SPTB1_HUMAN&rb=1478&re=1582&var=L1562Q	deleterious(0)	Q71VG2_HUMAN,Q71VG1_HUMAN,Q71VG0_HUMAN,Q71VF9_HUMAN,Q71VF8_HUMAN,O14726_HUMAN,O14725_HUMAN				SPTB,missense_variant,p.Leu1562Gln,ENST00000389722,NM_001024858.2;SPTB,missense_variant,p.Leu1562Gln,ENST00000556626,;SPTB,missense_variant,p.Leu1562Gln,ENST00000542895,;SPTB,missense_variant,p.Leu1562Gln,ENST00000389721,NM_000347.5;SPTB,missense_variant,p.Leu1562Gln,ENST00000389720,;SPTB,missense_variant,p.Leu227Gln,ENST00000553938,;							MODERATE	4685/6414	L1562Q	SPTB1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000374371		CCDS32100.1			1	
MIER3	0	LGGM	GRCh37	5	56234845	56234845	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	39	8	.	.	ENST00000381213.3:c.181-1G>A		p.X61_splice	ENST00000381213	NM_152622.3			0	1		UPI000020C79E	0		ENST00000381199		ENSG00000155545	26678		47			HGNC	-		MIER3		SNV							ENST00000381226	protein_coding							T		-/5188				A8MQD4_HUMAN				MIER3,splice_acceptor_variant,,ENST00000381226,;MIER3,splice_acceptor_variant,,ENST00000381213,NM_152622.3;MIER3,splice_acceptor_variant,,ENST00000381199,;MIER3,splice_acceptor_variant,,ENST00000409421,;MIER3,splice_acceptor_variant,,ENST00000336942,;AC016644.1,upstream_gene_variant,,ENST00000438553,;MIER3,splice_acceptor_variant,,ENST00000452157,;MIER3,splice_acceptor_variant,,ENST00000480115,;MIER3,upstream_gene_variant,,ENST00000451637,;							HIGH	181/1653		MIER3_HUMAN			Transcript			.	ENSP00000370596					1	
BIRC7	0	LGGM	GRCh37	20	61870782	61870782	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	13	8	.	.	ENST00000217169.3:c.722C>A	p.Ala241Glu	p.A241E	ENST00000217169	NM_139317.2	241	gCg/gAg	0	1	1	UPI00001269A6	0	NA	ENST00000217169		ENSG00000101197	13702		21	-0.895		HGNC	p.A241E		BIRC7		SNV							ENST00000217169	protein_coding	getma.org/?cm=var&var=hg19,20,61870782,C,A&fts=all		hmmpanther:PTHR10044,Gene3D:3.30.40.10,Superfamily_domains:SSF57924		A/E		A	neutral	936/1368		getma.org/?cm=msa&ty=f&p=BIRC7_HUMAN&rb=156&re=247&var=A241E	tolerated(1)				YES	BIRC7,missense_variant,p.Ala241Glu,ENST00000217169,NM_139317.2;BIRC7,missense_variant,p.Ala223Glu,ENST00000342412,NM_022161.3;BIRC7,missense_variant,p.Ala136Glu,ENST00000395306,;NKAIN4,downstream_gene_variant,,ENST00000370316,NM_152864.3;NKAIN4,downstream_gene_variant,,ENST00000370313,;NKAIN4,downstream_gene_variant,,ENST00000370307,;NKAIN4,downstream_gene_variant,,ENST00000370317,;MIR3196,downstream_gene_variant,,ENST00000579556,;NKAIN4,downstream_gene_variant,,ENST00000466885,;NKAIN4,downstream_gene_variant,,ENST00000470246,;NKAIN4,downstream_gene_variant,,ENST00000486495,;NKAIN4,downstream_gene_variant,,ENST00000461738,;							MODERATE	722/897	A241E	BIRC7_HUMAN			Transcript		benign(0)	.	ENSP00000217169		CCDS13513.1			1	
ABCA5	0	LGGM	GRCh37	17	67273809	67273809	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	8	.	.	ENST00000392676.3:c.2567A>C	p.Lys856Thr	p.K856T	ENST00000392676		856	aAa/aCa	0	1	1	UPI000013DD9E	0	NA	ENST00000392676		ENSG00000154265	35		25	2.605		HGNC	p.K856T		ABCA5		SNV			1				ENST00000588877	protein_coding	getma.org/?cm=var&var=hg19,17,67273809,T,G&fts=all		hmmpanther:PTHR19229:SF100,hmmpanther:PTHR19229		K/T		G	medium	2632/8220		getma.org/?cm=msa&ty=f&p=ABCA5_HUMAN&rb=814&re=889&var=K856T	deleterious(0.02)	K7EQ50_HUMAN,K7EPM3_HUMAN,K7EMV2_HUMAN,K7EJW6_HUMAN			YES	ABCA5,missense_variant,p.Lys856Thr,ENST00000392676,;ABCA5,missense_variant,p.Lys856Thr,ENST00000392677,NM_172232.2;ABCA5,missense_variant,p.Lys856Thr,ENST00000588877,NM_018672.3;ABCA5,missense_variant,p.Lys856Thr,ENST00000593153,;ABCA5,3_prime_UTR_variant,,ENST00000586995,;ABCA5,3_prime_UTR_variant,,ENST00000591234,;							MODERATE	2567/4929	K856T	ABCA5_HUMAN			Transcript		benign(0.224)	.	ENSP00000376443		CCDS11685.1			1	
EWSR1	0	LGGM	GRCh37	22	29694826	29694826	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	20	8	.	.	ENST00000414183.2:c.1536G>A	p.Gly512=	p.G512=	ENST00000414183		512	ggG/ggA	0	1		UPI000012A2B1	0		ENST00000397938		ENSG00000182944	3508		28			HGNC	p.G507G		EWSR1		SNV			1				ENST00000397938	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238		G		A		1840/2654								EWSR1,synonymous_variant,p.=,ENST00000397938,NM_001163286.1,NM_005243.3,NM_001163285.1,NM_013986.3;EWSR1,synonymous_variant,p.=,ENST00000332050,;EWSR1,synonymous_variant,p.=,ENST00000331029,;EWSR1,synonymous_variant,p.=,ENST00000406548,;EWSR1,synonymous_variant,p.=,ENST00000414183,;EWSR1,synonymous_variant,p.=,ENST00000332035,;EWSR1,synonymous_variant,p.=,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;							LOW	1521/1971		EWS_HUMAN			Transcript			.	ENSP00000381031		CCDS13851.1			1	
TRERF1	0	LGGM	GRCh37	6	42236475	42236475	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	27	8	.	.	ENST00000372922.4:c.854T>C	p.Met285Thr	p.M285T	ENST00000372922	NM_033502.2	285	aTg/aCg	0	1	1	UPI0000052952	0	NA	ENST00000372922		ENSG00000124496	18273		35	0.55		HGNC	p.M285T	rs756998896	TRERF1		SNV							ENST00000340840	protein_coding	getma.org/?cm=var&var=hg19,6,42236475,A,G&fts=all		hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089		M/T		G	neutral	1417/7286	1.50E-05	getma.org/?cm=msa&ty=f&p=TREF1_HUMAN&rb=1&re=503&var=M285T	deleterious_low_confidence(0.02)				YES	TRERF1,missense_variant,p.Met285Thr,ENST00000541110,;TRERF1,missense_variant,p.Met285Thr,ENST00000372917,;TRERF1,missense_variant,p.Met285Thr,ENST00000372922,NM_033502.2;TRERF1,missense_variant,p.Met285Thr,ENST00000340840,;TRERF1,missense_variant,p.Met285Thr,ENST00000354325,;							MODERATE	854/3603	M285T	TREF1_HUMAN			Transcript		benign(0.184)	.	ENSP00000362013	8.24E-06	CCDS4867.1			1	
ZNRF3	0	LGGM	GRCh37	22	29446173	29446173	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	19	8	.	.	ENST00000544604.2:c.2004C>G	p.Ser668Arg	p.S668R	ENST00000544604	NM_001206998.1	668	agC/agG	0	1	1	UPI0000EE5944	0	NA	ENST00000544604		ENSG00000183579	18126		27	2.005		HGNC	p.S568R		ZNRF3		SNV							ENST00000406323	protein_coding	getma.org/?cm=var&var=hg19,22,29446173,C,G&fts=all		hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200		S/R		G	medium	2179/6851		getma.org/?cm=msa&ty=f&p=ZNRF3_HUMAN&rb=361&re=935&var=S668R	deleterious_low_confidence(0)				YES	ZNRF3,missense_variant,p.Ser668Arg,ENST00000544604,NM_001206998.1;ZNRF3,missense_variant,p.Ser568Arg,ENST00000332811,;ZNRF3,missense_variant,p.Ser568Arg,ENST00000406323,;ZNRF3,missense_variant,p.Ser568Arg,ENST00000402174,NM_032173.3;							MODERATE	2004/2811	S668R	ZNRF3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000443824		CCDS56225.1			1	
LCMT2	0	LGGM	GRCh37	15	43622122	43622122	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	10	9	.	.	ENST00000305641.5:c.566C>T	p.Ala189Val	p.A189V	ENST00000305641	NM_014793.4	189	gCg/gTg	0	1	1	UPI00000727F6	0	getma.org/pdb.php?prot=LCMT2_HUMAN&from=12&to=207&var=A189V	ENST00000305641		ENSG00000168806	17558		19	-1.135		HGNC	p.A189V		LCMT2		SNV							ENST00000305641	protein_coding	getma.org/?cm=var&var=hg19,15,43622122,G,A&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF04072,hmmpanther:PTHR13600,hmmpanther:PTHR13600:SF2,Superfamily_domains:SSF53335		A/V		A	neutral	682/2830		getma.org/?cm=msa&ty=f&p=LCMT2_HUMAN&rb=12&re=207&var=A189V	tolerated(1)	B4DUW3_HUMAN			YES	LCMT2,missense_variant,p.Ala189Val,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,,ENST00000565555,;ADAL,upstream_gene_variant,,ENST00000563551,;							MODERATE	566/2061	A189V	LCMT2_HUMAN			Transcript		benign(0.004)	.	ENSP00000307214		CCDS10094.1			1	
EMR3	0	LGGM	GRCh37	19	14749131	14749131	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	13	9	.	.	ENST00000253673.5:c.1270G>T	p.Gly424Cys	p.G424C	ENST00000253673	NM_032571.3	424	Ggt/Tgt	0	1	1	UPI0000456C29	0	NA	ENST00000253673		ENSG00000131355	23647		22	3.2		HGNC	p.G372C		EMR3		SNV							ENST00000344373	protein_coding	getma.org/?cm=var&var=hg19,19,14749131,C,A&fts=all		Pfam_domain:PF00002,Prints_domain:PR00249,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF178,Superfamily_domains:SSF81321		G/C		A	medium	1371/2254		getma.org/?cm=msa&ty=f&p=EMR3_HUMAN&rb=353&re=594&var=G424C	deleterious(0)	M0R1G2_HUMAN			YES	EMR3,missense_variant,p.Gly424Cys,ENST00000253673,NM_032571.3;EMR3,missense_variant,p.Gly372Cys,ENST00000344373,;EMR3,missense_variant,p.Gly209Cys,ENST00000599900,;EMR3,missense_variant,p.Gly298Cys,ENST00000443157,;							MODERATE	1270/1959	G424C	EMR3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000253673		CCDS12315.1			1	
SPEF2	0	LGGM	GRCh37	5	35705875	35705875	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	19	9	.	.	ENST00000356031.3:c.2630T>G	p.Ile877Ser	p.I877S	ENST00000356031	NM_024867.3	877	aTt/aGt	0	1	1	UPI0001505B9F	0	NA	ENST00000356031		ENSG00000152582	26293		28	1.78		HGNC	p.I877S		SPEF2		SNV							ENST00000356031	protein_coding	getma.org/?cm=var&var=hg19,5,35705875,T,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14919,hmmpanther:PTHR14919:SF0,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		I/S		G	low	2784/5681		getma.org/?cm=msa&ty=f&p=SPEF2_HUMAN&rb=764&re=963&var=I877S	deleterious(0)				YES	SPEF2,missense_variant,p.Ile872Ser,ENST00000440995,;SPEF2,missense_variant,p.Ile877Ser,ENST00000356031,NM_024867.3;SPEF2,missense_variant,p.Ile872Ser,ENST00000509059,;SPEF2,missense_variant,p.Ile383Ser,ENST00000504054,;CTD-2113L7.1,intron_variant,,ENST00000510433,;SPEF2,3_prime_UTR_variant,,ENST00000508817,;SPEF2,non_coding_transcript_exon_variant,,ENST00000503074,;							MODERATE	2630/5469	I877S	SPEF2_HUMAN			Transcript		benign(0.022)	.	ENSP00000348314		CCDS43309.1			1	
ROBO4	0	LGGM	GRCh37	11	124757318	124757318	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	16	9	.	.	ENST00000306534.3:c.2134C>A	p.Arg712Ser	p.R712S	ENST00000306534	NM_019055.5	712	Cgt/Agt	0	1	1	UPI000004A023	0	NA	ENST00000306534		ENSG00000154133	17985		25	2.075		HGNC	p.R712S		ROBO4		SNV							ENST00000306534	protein_coding	getma.org/?cm=var&var=hg19,11,124757318,G,T&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF1		R/S		T	medium	2620/4710		getma.org/?cm=msa&ty=f&p=ROBO4_HUMAN&rb=539&re=1005&var=R712S	tolerated(0.44)	B4DYV8_HUMAN			YES	ROBO4,missense_variant,p.Arg712Ser,ENST00000306534,NM_019055.5;ROBO4,missense_variant,p.Arg567Ser,ENST00000533054,;RP11-664I21.6,upstream_gene_variant,,ENST00000524433,;RP11-664I21.5,intron_variant,,ENST00000524453,;ROBO4,non_coding_transcript_exon_variant,,ENST00000534407,;ROBO4,non_coding_transcript_exon_variant,,ENST00000532216,;ROBO4,downstream_gene_variant,,ENST00000525182,;							MODERATE	2134/3024	R712S	ROBO4_HUMAN			Transcript		benign(0.131)	.	ENSP00000304945		CCDS8455.1			1	
TRPS1	0	LGGM	GRCh37	8	116631942	116631942	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	50	10	.	.	ENST00000395715.3:c.383C>G	p.Ser128Cys	p.S128C	ENST00000395715	NM_014112.2	128	tCt/tGt	0	1		UPI0000137646	0	NA	ENST00000220888		ENSG00000104447	12340		60	0.55		HGNC	p.S115C		TRPS1		SNV			1				ENST00000519674	protein_coding	getma.org/?cm=var&var=hg19,8,116631942,G,C&fts=all		hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6		S/C		C	neutral	504/5480		getma.org/?cm=msa&ty=f&p=TRPS1_HUMAN&rb=1&re=206&var=S115C	deleterious_low_confidence(0)					TRPS1,missense_variant,p.Ser128Cys,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,missense_variant,p.Ser115Cys,ENST00000220888,;TRPS1,missense_variant,p.Ser119Cys,ENST00000520276,NM_001282902.1;TRPS1,missense_variant,p.Ser115Cys,ENST00000519674,;TRPS1,missense_variant,p.Ser119Cys,ENST00000517323,;TRPS1,splice_region_variant,,ENST00000519076,;TRPS1,downstream_gene_variant,,ENST00000519815,;TRPS1,downstream_gene_variant,,ENST00000422939,;TRPS1,downstream_gene_variant,,ENST00000395713,;TRPS1,downstream_gene_variant,,ENST00000451156,;							MODERATE	344/3846	S115C	TRPS1_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000220888					1	
SNTG2	0	LGGM	GRCh37	2	1312325	1312325	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	29	10	.	.	ENST00000308624.5:c.1344G>T	p.Ala448=	p.A448=	ENST00000308624	NM_018968.3	448	gcG/gcT	0	1	1	UPI0000456D73	0		ENST00000308624		ENSG00000172554	13741		39			HGNC	p.A448A		SNTG2		SNV							ENST00000308624	protein_coding			hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF3		A		T		1473/1888							YES	SNTG2,synonymous_variant,p.=,ENST00000308624,NM_018968.3;SNTG2,synonymous_variant,p.=,ENST00000407292,;SNTG2,non_coding_transcript_exon_variant,,ENST00000471239,;							LOW	1344/1620		SNTG2_HUMAN			Transcript			.	ENSP00000311837		CCDS46220.1			1	
TNFRSF19	0	LGGM	GRCh37	13	24200885	24200885	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	16	10	.	.	ENST00000382258.4:c.399G>T	p.Met133Ile	p.M133I	ENST00000382258	NM_018647.3	133	atG/atT	0	1	1	UPI00001372A7	0	NA	ENST00000382258		ENSG00000127863	11915		26	2.295		HGNC	p.M133I		TNFRSF19		SNV							ENST00000248484	protein_coding	getma.org/?cm=var&var=hg19,13,24200885,G,T&fts=all		hmmpanther:PTHR12120,hmmpanther:PTHR12120:SF1		M/I		T	medium	603/1625		getma.org/?cm=msa&ty=f&p=TNR19_HUMAN&rb=1&re=152&var=M133I	deleterious(0)				YES	TNFRSF19,start_lost,p.Met1?,ENST00000403372,NM_001204459.1;TNFRSF19,missense_variant,p.Met133Ile,ENST00000382263,NM_001204458.1;TNFRSF19,missense_variant,p.Met133Ile,ENST00000248484,NM_148957.3;TNFRSF19,missense_variant,p.Met133Ile,ENST00000382258,NM_018647.3;							MODERATE	399/1272	M133I	TNR19_HUMAN			Transcript		benign(0.164)	.	ENSP00000371693		CCDS9302.1			1	
SNX18	0	LGGM	GRCh37	5	53815535	53815535	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	24	10	.	.	ENST00000326277.3:c.1753G>T	p.Ala585Ser	p.A585S	ENST00000326277	NM_052870.2	585	Gcc/Tcc	0	1	1	UPI00001418B0	0	NA	ENST00000326277		ENSG00000178996	19245		34	-0.69		HGNC	p.A585S		SNX18		SNV							ENST00000343017	protein_coding	getma.org/?cm=var&var=hg19,5,53815535,G,T&fts=all		PIRSF_domain:PIRSF027744		A/S		T	neutral	1943/3241		getma.org/?cm=msa&ty=f&p=SNX18_HUMAN&rb=421&re=628&var=A585S	tolerated_low_confidence(0.88)				YES	SNX18,missense_variant,p.Ala585Ser,ENST00000343017,NM_001145427.1;SNX18,missense_variant,p.Ala585Ser,ENST00000326277,NM_052870.2;SNX18,intron_variant,,ENST00000381410,NM_001102575.1;							MODERATE	1753/1887	A585S	SNX18_HUMAN			Transcript		benign(0)	.	ENSP00000317332		CCDS3962.1			1	
DISP2	0	LGGM	GRCh37	15	40656063	40656063	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	23	10	.	.	ENST00000267889.3:c.357C>G	p.Ser119=	p.S119=	ENST00000267889	NM_033510.1	119	tcC/tcG	0	1	1	UPI0000160F9B	0		ENST00000267889		ENSG00000140323	19712		33			HGNC	p.S119S		DISP2		SNV							ENST00000267889	protein_coding			hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF58		S		G		444/5031							YES	DISP2,synonymous_variant,p.=,ENST00000267889,NM_033510.1;DISP2,upstream_gene_variant,,ENST00000559721,;							LOW	357/4206		DISP2_HUMAN			Transcript			.	ENSP00000267889		CCDS10056.1			1	
ZNF48	0	LGGM	GRCh37	16	30410334	30410334	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	14	10	.	.	ENST00000320159.2:c.1763A>T	p.Lys588Met	p.K588M	ENST00000320159	NM_152652.2	588	aAg/aTg	0	1	1	UPI000013E982	0	NA	ENST00000320159		ENSG00000180035	13114		24	0.695		HGNC	p.K588M		ZNF48		SNV							ENST00000320159	protein_coding	getma.org/?cm=var&var=hg19,16,30410334,A,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF18,PROSITE_profiles:PS50157		K/M		T	neutral	2139/3234		getma.org/?cm=msa&ty=f&p=ZNF48_HUMAN&rb=583&re=618&var=K588M	tolerated(0.05)	E9PQ92_HUMAN,E9PJ50_HUMAN			YES	ZNF48,missense_variant,p.Lys588Met,ENST00000320159,NM_152652.2,NM_001214907.1,NM_001214909.1,NM_001214906.1;ZNF48,downstream_gene_variant,,ENST00000524644,;ZNF48,downstream_gene_variant,,ENST00000528032,;ZNF48,downstream_gene_variant,,ENST00000495929,;SEPT1,upstream_gene_variant,,ENST00000570039,;SEPT1,upstream_gene_variant,,ENST00000567783,;							MODERATE	1763/1857	K588M	ZNF48_HUMAN			Transcript		possibly_damaging(0.79)	.	ENSP00000324056		CCDS10679.1			1	
KIF18A	0	LGGM	GRCh37	11	28090924	28090924	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	29	11	.	.	ENST00000263181.6:c.1472G>A	p.Arg491His	p.R491H	ENST00000263181	NM_031217.3	491	cGc/cAc	0	1	1	UPI0000037CCC	0	NA	ENST00000263181		ENSG00000121621	29441		40	0.69		HGNC	p.R491H	rs758314655	KIF18A	6.06E-05	SNV				0.000192			ENST00000263181	protein_coding	getma.org/?cm=var&var=hg19,11,28090924,C,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF399		R/H		T	neutral	1763/3568	1.50E-05	getma.org/?cm=msa&ty=f&p=KI18A_HUMAN&rb=356&re=555&var=R491H	tolerated(0.24)				YES	KIF18A,missense_variant,p.Arg491His,ENST00000263181,NM_031217.3;							MODERATE	1472/2697	R491H	KI18A_HUMAN			Transcript		benign(0.051)	.	ENSP00000263181	3.30E-05	CCDS7867.1			1	
HMG20A	0	LGGM	GRCh37	15	77770672	77770672	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	22	11	.	.	ENST00000381714.3:c.727A>T	p.Asn243Tyr	p.N243Y	ENST00000381714	NM_018200.2	243	Aac/Tac	0	1		UPI00000737EF	0	NA	ENST00000336216		ENSG00000140382	5001		33	2.395		HGNC	p.N243Y		HMG20A		SNV							ENST00000336216	protein_coding	getma.org/?cm=var&var=hg19,15,77770672,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF158		N/Y		T	medium	1085/4046		getma.org/?cm=msa&ty=f&p=HM20A_HUMAN&rb=172&re=347&var=N243Y	deleterious(0)	H0YNS8_HUMAN,H0YMS9_HUMAN,H0YM80_HUMAN,H0YKM5_HUMAN,H0YK55_HUMAN,B4DMG1_HUMAN				HMG20A,missense_variant,p.Asn243Tyr,ENST00000381714,NM_018200.2;HMG20A,missense_variant,p.Asn243Tyr,ENST00000336216,;HMG20A,missense_variant,p.Asn14Tyr,ENST00000558845,;HMG20A,non_coding_transcript_exon_variant,,ENST00000559728,;HMG20A,upstream_gene_variant,,ENST00000558288,;							MODERATE	727/1044	N243Y	HM20A_HUMAN			Transcript		possibly_damaging(0.821)	.	ENSP00000336856		CCDS10295.1			1	
LYG1	0	LGGM	GRCh37	2	99907845	99907845	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	7	11	.	.	ENST00000409448.1:c.188C>A	p.Pro63Gln	p.P63Q	ENST00000409448		63	cCa/cAa	0	1		UPI0000036A47	0	getma.org/pdb.php?prot=LYG1_HUMAN&from=15&to=192&var=P63Q	ENST00000308528		ENSG00000144214	27014		18	1.15		HGNC	p.P63Q		LYG1		SNV							ENST00000409448	protein_coding	getma.org/?cm=var&var=hg19,2,99907845,G,T&fts=all		Prints_domain:PR00749,Superfamily_domains:SSF53955,PIRSF_domain:PIRSF001065,Gene3D:1.10.530.10,hmmpanther:PTHR31698:SF5,hmmpanther:PTHR31698		P/Q		T	low	438/990		getma.org/?cm=msa&ty=f&p=LYG1_HUMAN&rb=15&re=192&var=P63Q	tolerated(0.29)					LYG1,missense_variant,p.Pro63Gln,ENST00000409448,;LYG1,missense_variant,p.Pro63Gln,ENST00000308528,NM_174898.2;C2orf15,intron_variant,,ENST00000424491,;							MODERATE	188/585	P63Q	LYG1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000311320		CCDS2043.1			1	
ADAMTS19	0	LGGM	GRCh37	5	128864267	128864267	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	28	11	.	.	ENST00000274487.4:c.1207T>C	p.Trp403Arg	p.W403R	ENST00000274487	NM_133638.3	403	Tgg/Cgg	0	1	1	UPI000013DA0D	0	getma.org/pdb.php?prot=ATS19_HUMAN&from=325&to=545&var=W403R	ENST00000274487		ENSG00000145808	17111		39	2.92		HGNC	p.W403R		ADAMTS19		SNV							ENST00000274487	protein_coding	getma.org/?cm=var&var=hg19,5,128864267,T,C&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF151,Pfam_domain:PF01421,Gene3D:3.40.390.10,Superfamily_domains:SSF55486		W/R		C	medium	1352/5234		getma.org/?cm=msa&ty=f&p=ATS19_HUMAN&rb=325&re=545&var=W403R	deleterious(0)				YES	ADAMTS19,missense_variant,p.Trp403Arg,ENST00000274487,NM_133638.3;CTC-575N7.1,intron_variant,,ENST00000503616,;ADAMTS19,downstream_gene_variant,,ENST00000505791,;ADAMTS19,downstream_gene_variant,,ENST00000502709,;							MODERATE	1207/3624	W403R	ATS19_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000274487		CCDS4146.1			1	
RABEPK	0	LGGM	GRCh37	9	127963071	127963071	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	11	.	.	ENST00000373538.3:c.-121G>A		*41*	ENST00000373538	NM_005833.3			0	1	1	UPI000013D058	0		ENST00000373538		ENSG00000136933	16896		28			HGNC	p.G63E		RABEPK		SNV							ENST00000416065	protein_coding							A		190/1504							YES	RABEPK,missense_variant,p.Gly63Glu,ENST00000416065,;RABEPK,5_prime_UTR_variant,,ENST00000373544,;RABEPK,5_prime_UTR_variant,,ENST00000373538,NM_005833.3;RABEPK,5_prime_UTR_variant,,ENST00000394125,NM_001174152.1;RABEPK,5_prime_UTR_variant,,ENST00000394124,;RABEPK,5_prime_UTR_variant,,ENST00000259460,NM_001174153.1;RP11-366O20.5,upstream_gene_variant,,ENST00000444599,;							MODIFIER	-/1119		RABEK_HUMAN			Transcript			.	ENSP00000362639		CCDS6862.1			1	
RBM33	0	LGGM	GRCh37	7	155532414	155532414	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	11	11	.	.	ENST00000401878.3:c.1743G>A	p.Pro581=	p.P581=	ENST00000401878	NM_053043.2	581	ccG/ccA	0	1	1	UPI00015743D7	0		ENST00000401878		ENSG00000184863	27223		22			HGNC	p.P581P	rs374150068	RBM33		SNV	A:0.0003			0.000371			ENST00000401878	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2		P	A:0	A		1941/10149				C9J7M3_HUMAN			YES	RBM33,synonymous_variant,p.=,ENST00000401878,NM_053043.2;RBM33,synonymous_variant,p.=,ENST00000392761,;RBM33,downstream_gene_variant,,ENST00000440108,;RBM33,3_prime_UTR_variant,,ENST00000307403,;							LOW	1743/3513		RBM33_HUMAN			Transcript			.	ENSP00000384160	4.09E-05	CCDS5941.2			1	
HIF1A	0	LGGM	GRCh37	14	62203643	62203643	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	36	11	.	.	ENST00000539097.1:c.1137A>G	p.Gln379=	p.Q379=	ENST00000539097	NM_001243084.1	379	caA/caG	0	1		UPI0000000A06	0		ENST00000337138		ENSG00000100644	4910		47			HGNC	p.Q379Q		HIF1A		SNV							ENST00000539097	protein_coding			hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF7		Q		G		1330/3919				F8W9L0_HUMAN,D0VY79_HUMAN,B4E2U7_HUMAN				HIF1A,synonymous_variant,p.=,ENST00000394997,;HIF1A,synonymous_variant,p.=,ENST00000337138,NM_001530.3;HIF1A,synonymous_variant,p.=,ENST00000323441,NM_181054.2;HIF1A,synonymous_variant,p.=,ENST00000539097,NM_001243084.1;HIF1A,synonymous_variant,p.=,ENST00000557538,;HIF1A-AS2,intron_variant,,ENST00000554254,;HIF1A,non_coding_transcript_exon_variant,,ENST00000555014,;RP11-618G20.1,intron_variant,,ENST00000555937,;HIF1A,upstream_gene_variant,,ENST00000547430,;							LOW	1065/2481		HIF1A_HUMAN			Transcript			.	ENSP00000338018		CCDS9753.1			1	
HMGCS2	0	LGGM	GRCh37	1	120295277	120295277	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	29	11	.	.	ENST00000369406.3:c.1315G>A	p.Val439Met	p.V439M	ENST00000369406	NM_005518.3	439	Gtg/Atg	0	1	1	UPI000000DA7A	0	getma.org/pdb.php?prot=HMCS2_HUMAN&from=224&to=506&var=V439M	ENST00000369406		ENSG00000134240	5008		40	1.96		HGNC	p.V439M		HMGCS2		SNV			1				ENST00000369406	protein_coding	getma.org/?cm=var&var=hg19,1,120295277,C,T&fts=all		Pfam_domain:PF08540,hmmpanther:PTHR11877,hmmpanther:PTHR11877:SF16,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01833		V/M		T	medium	1365/2428		getma.org/?cm=msa&ty=f&p=HMCS2_HUMAN&rb=224&re=506&var=V439M	tolerated(0.16)				YES	HMGCS2,missense_variant,p.Val439Met,ENST00000369406,NM_005518.3;HMGCS2,missense_variant,p.Val397Met,ENST00000544913,NM_001166107.1;HMGCS2,downstream_gene_variant,,ENST00000476640,;HMGCS2,downstream_gene_variant,,ENST00000472375,;							MODERATE	1315/1527	V439M	HMCS2_HUMAN			Transcript		benign(0.388)	.	ENSP00000358414		CCDS905.1			1	
PTPLAD1	0	LGGM	GRCh37	15	65851071	65851071	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	25	12	.	.	ENST00000261875.5:c.421+2T>C		p.X141_splice	ENST00000261875	NM_016395.2			0	1	1	UPI00001D6EF0	0		ENST00000261875		ENSG00000074696	24175		37			HGNC	-		PTPLAD1		SNV							ENST00000562901	protein_coding							C		-/3225				H3BRL8_HUMAN,H3BMZ1_HUMAN			YES	PTPLAD1,splice_donor_variant,,ENST00000261875,NM_016395.2;PTPLAD1,splice_donor_variant,,ENST00000568793,;PTPLAD1,splice_donor_variant,,ENST00000562901,;PTPLAD1,splice_donor_variant,,ENST00000566511,;PTPLAD1,splice_donor_variant,,ENST00000566074,;PTPLAD1,splice_donor_variant,,ENST00000569894,;PTPLAD1,splice_donor_variant,,ENST00000565299,;PTPLAD1,splice_donor_variant,,ENST00000442729,;PTPLAD1,splice_donor_variant,,ENST00000562832,;							HIGH	421/1089		HACD3_HUMAN			Transcript			.	ENSP00000261875		CCDS45282.1			1	
AMER3	0	LGGM	GRCh37	2	131520861	131520861	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	12	.	.	ENST00000423981.1:c.1216G>T	p.Gly406Cys	p.G406C	ENST00000423981	NM_001105194.1	406	Ggc/Tgc	0	1		UPI0000D61239	0	NA	ENST00000321420		ENSG00000178171	26771		29	0.805		HGNC	p.G406C		AMER3		SNV							ENST00000423981	protein_coding	getma.org/?cm=var&var=hg19,2,131520861,G,T&fts=all		Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2		G/C		T	low	1475/3273		getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=401&re=600&var=G406C	deleterious(0.04)	C9JS07_HUMAN,C9J4B8_HUMAN				AMER3,missense_variant,p.Gly406Cys,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Gly406Cys,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;							MODERATE	1216/2586	G406C	AMER3_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000314914		CCDS2164.1			1	
TNKS	0	LGGM	GRCh37	8	9588418	9588418	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	33	12	.	.	ENST00000310430.6:c.2020A>G	p.Asn674Asp	p.N674D	ENST00000310430	NM_003747.2	674	Aat/Gat	0	1	1	UPI000013F00D	0	getma.org/pdb.php?prot=TNKS1_HUMAN&from=622&to=683&var=N674D	ENST00000310430		ENSG00000173273	11941		45	1.01		HGNC	p.N674D		TNKS		SNV							ENST00000310430	protein_coding	getma.org/?cm=var&var=hg19,8,9588418,A,G&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24180:SF3,hmmpanther:PTHR24180,Pfam_domain:PF12796,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		N/D		G	low	2046/9620		getma.org/?cm=msa&ty=f&p=TNKS1_HUMAN&rb=622&re=683&var=N674D	tolerated(0.42)	Q59FX0_HUMAN,E7EQ52_HUMAN			YES	TNKS,missense_variant,p.Asn674Asp,ENST00000310430,NM_003747.2;TNKS,missense_variant,p.Asn437Asp,ENST00000518281,;TNKS,non_coding_transcript_exon_variant,,ENST00000519930,;TNKS,upstream_gene_variant,,ENST00000518635,;							MODERATE	2020/3984	N674D	TNKS1_HUMAN			Transcript		benign(0.41)	.	ENSP00000311579		CCDS5974.1			1	
WDR78	0	LGGM	GRCh37	1	67327928	67327928	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	26	12	.	.	ENST00000371026.3:c.998C>T	p.Ser333Phe	p.S333F	ENST00000371026	NM_024763.4	333	tCt/tTt	0	1	1	UPI00004561EF	0	NA	ENST00000371026		ENSG00000152763	26252		38	1.905		HGNC	p.S99F		WDR78		SNV							ENST00000464352	protein_coding	getma.org/?cm=var&var=hg19,1,67327928,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12442:SF12,hmmpanther:PTHR12442		S/F		A	medium	1054/3848		getma.org/?cm=msa&ty=f&p=WDR78_HUMAN&rb=1&re=469&var=S333F	deleterious(0.02)				YES	WDR78,missense_variant,p.Ser333Phe,ENST00000371026,NM_024763.4;WDR78,missense_variant,p.Ser79Phe,ENST00000431318,;WDR78,missense_variant,p.Ser99Phe,ENST00000464352,;WDR78,missense_variant,p.Ser333Phe,ENST00000371023,NM_207014.2;WDR78,missense_variant,p.Ser67Phe,ENST00000469450,;WDR78,missense_variant,p.Ser20Phe,ENST00000531552,;WDR78,non_coding_transcript_exon_variant,,ENST00000493572,;WDR78,3_prime_UTR_variant,,ENST00000491297,;WDR78,downstream_gene_variant,,ENST00000531980,;							MODERATE	998/2547	S333F	WDR78_HUMAN			Transcript		benign(0.287)	.	ENSP00000360065		CCDS635.1			1	
NF1	0	LGGM	GRCh37	17	29541573	29541573	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	28	12	.	.	ENST00000358273.4:c.1497A>T	p.Leu499=	p.L499=	ENST00000358273	NM_001042492.2	499	ctA/ctT	0	1	1	UPI000012FFAE	0		ENST00000358273		ENSG00000196712	7765		40			HGNC	p.L533L		NF1		SNV			1				ENST00000579081	protein_coding			hmmpanther:PTHR10194:SF60,hmmpanther:PTHR10194		L		T		1880/12425				Q9UMU3_HUMAN,Q4W6X4_HUMAN,K7EP94_HUMAN			YES	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.=,ENST00000431387,NM_001128147.2;NF1,synonymous_variant,p.=,ENST00000579081,;NF1,3_prime_UTR_variant,,ENST00000495910,;NF1,non_coding_transcript_exon_variant,,ENST00000487476,;							LOW	1497/8520		NF1_HUMAN			Transcript			.	ENSP00000351015		CCDS42292.1			1	
TAMM41	0	LGGM	GRCh37	3	11885555	11885555	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	32	13	.	.	ENST00000273037.5:c.266A>G	p.Asn89Ser	p.N89S	ENST00000273037	NM_138807.2	89	aAt/aGt	0	1		UPI00017A731F	0	NA	ENST00000444133		ENSG00000144559	25187		45	0.875		HGNC	p.N89S		TAMM41		SNV							ENST00000444133	protein_coding	getma.org/?cm=var&var=hg19,3,11885555,T,C&fts=all		Pfam_domain:PF09139,hmmpanther:PTHR13619:SF0,hmmpanther:PTHR13619		N/S		C	low	409/1619		getma.org/?cm=msa&ty=f&p=TAM41_HUMAN&rb=1&re=200&var=N89S	tolerated(0.16)	B4DIY7_HUMAN				TAMM41,missense_variant,p.Asn89Ser,ENST00000444133,;TAMM41,missense_variant,p.Asn89Ser,ENST00000273037,NM_138807.2;TAMM41,missense_variant,p.Asn89Ser,ENST00000455809,NM_001284401.1;TAMM41,missense_variant,p.Asn89Ser,ENST00000457498,;TAMM41,missense_variant,p.Asn89Ser,ENST00000411947,;TAMM41,3_prime_UTR_variant,,ENST00000417723,;TAMM41,non_coding_transcript_exon_variant,,ENST00000494388,;							MODERATE	266/1359	N89S				Transcript		benign(0.101)	.	ENSP00000388598					1	
TF	0	LGGM	GRCh37	3	133474247	133474247	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	21	13	.	.	ENST00000402696.3:c.543G>C	p.Ala181=	p.A181=	ENST00000402696	NM_001063.3	181	gcG/gcC	0	1	1	UPI000013D5A6	0		ENST00000402696		ENSG00000091513	11740		34			HGNC	p.A54A		TF		SNV			1				ENST00000264998	protein_coding			Prints_domain:PR00422,Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408		A		C		1028/2968				J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,synonymous_variant,p.=,ENST00000402696,NM_001063.3;TF,synonymous_variant,p.=,ENST00000264998,;TF,synonymous_variant,p.=,ENST00000482271,;TF,downstream_gene_variant,,ENST00000466911,;TF,downstream_gene_variant,,ENST00000475382,;TFP1,downstream_gene_variant,,ENST00000460564,;TF,3_prime_UTR_variant,,ENST00000494430,;TF,non_coding_transcript_exon_variant,,ENST00000493011,;TF,intron_variant,,ENST00000485977,;TF,downstream_gene_variant,,ENST00000498622,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000460531,;TF,downstream_gene_variant,,ENST00000414694,;RP11-404G16.2,upstream_gene_variant,,ENST00000474389,;							LOW	543/2097		TRFE_HUMAN			Transcript			.	ENSP00000385834		CCDS3080.1			1	
SLC25A21	0	LGGM	GRCh37	14	37180593	37180593	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	32	13	.	.	ENST00000331299.5:c.533G>T	p.Arg178Leu	p.R178L	ENST00000331299	NM_030631.3	178	cGa/cTa	0	1	1	UPI0000130BCE	0	NA	ENST00000331299		ENSG00000183032	14411		45	3.495		HGNC	p.R178L		SLC25A21		SNV							ENST00000331299	protein_coding	getma.org/?cm=var&var=hg19,14,37180593,C,A&fts=all		Superfamily_domains:0048588,Gene3D:1okcA00,Pfam_domain:PF00153,PROSITE_profiles:PS50920,hmmpanther:PTHR24089,hmmpanther:PTHR24089:SF35		R/L		A	medium	1049/2785		getma.org/?cm=msa&ty=f&p=ODC_HUMAN&rb=106&re=201&var=R178L	deleterious(0)				YES	SLC25A21,missense_variant,p.Arg178Leu,ENST00000331299,NM_030631.3;SLC25A21,missense_variant,p.Arg178Leu,ENST00000555449,NM_001171170.1;SLC25A21,non_coding_transcript_exon_variant,,ENST00000556444,;							MODERATE	533/900	R178L	ODC_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329452		CCDS9663.1			1	
LAMA1	0	LGGM	GRCh37	18	7010284	7010284	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	18	13	.	.	ENST00000389658.3:c.3788G>T	p.Gly1263Val	p.G1263V	ENST00000389658	NM_005559.3	1263	gGt/gTt	0	1	1	UPI00001C1FF9	0	NA	ENST00000389658		ENSG00000101680	6481		31	2.85		HGNC	p.G1263V		LAMA1		SNV			1				ENST00000389658	protein_coding	getma.org/?cm=var&var=hg19,18,7010284,C,A&fts=all		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF38,SMART_domains:SM00281		G/V		A	medium	3882/9657		getma.org/?cm=msa&ty=f&p=LAMA1_HUMAN&rb=1218&re=1360&var=G1263V	deleterious(0)	Q7Z5W6_HUMAN,Q6P6D3_HUMAN			YES	LAMA1,missense_variant,p.Gly1263Val,ENST00000389658,NM_005559.3;LAMA1,non_coding_transcript_exon_variant,,ENST00000579014,;							MODERATE	3788/9228	G1263V	LAMA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374309		CCDS32787.1			1	
TET1	0	LGGM	GRCh37	10	70446392	70446392	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	41	13	.	.	ENST00000373644.4:c.5332A>C	p.Ile1778Leu	p.I1778L	ENST00000373644	NM_030625.2	1778	Att/Ctt	0	1	1	UPI000013D114	0	NA	ENST00000373644		ENSG00000138336	29484		54	0.895		HGNC	p.I1778L		TET1		SNV							ENST00000373644	protein_coding	getma.org/?cm=var&var=hg19,10,70446392,A,C&fts=all		Pfam_domain:PF12851,hmmpanther:PTHR23358,hmmpanther:PTHR23358:SF2		I/L		C	low	5541/9288		getma.org/?cm=msa&ty=f&p=TET1_HUMAN&rb=1580&re=2052&var=I1778L	tolerated(0.3)				YES	TET1,missense_variant,p.Ile1778Leu,ENST00000373644,NM_030625.2;							MODERATE	5332/6411	I1778L	TET1_HUMAN			Transcript		benign(0.01)	.	ENSP00000362748		CCDS7281.1			1	
MAP2	0	LGGM	GRCh37	2	210555353	210555353	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	44	13	.	.	ENST00000360351.4:c.455-1996G>T		*152*	ENST00000360351	NM_002374.3			0	1	1	UPI000013D119	0		ENST00000360351		ENSG00000078018	6839		57			HGNC	p.A161S		MAP2		SNV							ENST00000445941	protein_coding							T		-/9711				A8MZ31_HUMAN			YES	MAP2,missense_variant,p.Ala161Ser,ENST00000445941,;MAP2,intron_variant,,ENST00000360351,NM_002374.3;MAP2,intron_variant,,ENST00000447185,;MAP2,intron_variant,,ENST00000392194,NM_031845.2,NM_031847.2;MAP2,intron_variant,,ENST00000199940,NM_001039538.1;MAP2,intron_variant,,ENST00000361559,;MAP2,intron_variant,,ENST00000452717,;MAP2,non_coding_transcript_exon_variant,,ENST00000481649,;MAP2,intron_variant,,ENST00000471619,;MAP2,intron_variant,,ENST00000482864,;MAP2,intron_variant,,ENST00000461253,;							MODIFIER	-/5484		MTAP2_HUMAN			Transcript			.	ENSP00000353508		CCDS2384.1			1	
ANO8	0	LGGM	GRCh37	19	17442163	17442163	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	14	.	.	ENST00000159087.4:c.644G>A	p.Arg215His	p.R215H	ENST00000159087	NM_020959.2	215	cGt/cAt	0	1	1	UPI00001C200F	0	NA	ENST00000159087		ENSG00000074855	29329		31	1.59		HGNC	p.R215H	rs751946976	ANO8		SNV							ENST00000159087	protein_coding	getma.org/?cm=var&var=hg19,19,17442163,C,T&fts=all		hmmpanther:PTHR12308,hmmpanther:PTHR12308:SF26		R/H		T	low	803/4152	0.00012	getma.org/?cm=msa&ty=f&p=ANO8_HUMAN&rb=201&re=236&var=R215H	deleterious(0.01)				YES	ANO8,missense_variant,p.Arg215His,ENST00000159087,NM_020959.2;GTPBP3,upstream_gene_variant,,ENST00000361619,NM_001195422.1;GTPBP3,upstream_gene_variant,,ENST00000598532,;ANO8,missense_variant,p.Arg215His,ENST00000597643,;ANO8,downstream_gene_variant,,ENST00000600711,;GTPBP3,upstream_gene_variant,,ENST00000601213,;							MODERATE	644/3699	R215H	ANO8_HUMAN			Transcript		benign(0.265)	.	ENSP00000159087	6.59E-05	CCDS32949.1			1	
ANK2	0	LGGM	GRCh37	4	114209556	114209556	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	32	14	.	.	ENST00000357077.4:c.2191C>G	p.Pro731Ala	p.P731A	ENST00000357077	NM_001148.4	731	Cct/Gct	0	1	1	UPI0000441EF3	0	getma.org/pdb.php?prot=ANK2_HUMAN&from=727&to=759&var=P731A	ENST00000357077		ENSG00000145362	493		46	0.74		HGNC	p.P710A		ANK2		SNV			1				ENST00000503271	protein_coding	getma.org/?cm=var&var=hg19,4,114209556,C,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17,SMART_domains:SM00248,Superfamily_domains:SSF48403		P/A		G	neutral	2244/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=727&re=759&var=P731A		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Pro731Ala,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Pro731Ala,ENST00000264366,;ANK2,missense_variant,p.Pro710Ala,ENST00000506722,NM_001127493.1;ANK2,missense_variant,p.Pro731Ala,ENST00000394537,NM_020977.3;ANK2,missense_variant,p.Pro746Ala,ENST00000504454,;ANK2,missense_variant,p.Pro677Ala,ENST00000503423,;ANK2,missense_variant,p.Pro710Ala,ENST00000503271,;ANK2,upstream_gene_variant,,ENST00000509550,;ANK2,upstream_gene_variant,,ENST00000502701,;							MODERATE	2191/11874	P731A	ANK2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349588		CCDS3702.1			1	
HTR1F	0	LGGM	GRCh37	3	88040297	88040297	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	36	15	.	.	ENST00000319595.4:c.398G>A	p.Arg133Lys	p.R133K	ENST00000319595	NM_000866.3	133	aGg/aAg	0	1	1	UPI00000503DF	0	getma.org/pdb.php?prot=5HT1F_HUMAN&from=40&to=347&var=R133K	ENST00000319595		ENSG00000179097	5292		51	1.405		HGNC	p.R133K	rs769604315,COSM3597835	HTR1F		SNV						0,1	ENST00000319595	protein_coding	getma.org/?cm=var&var=hg19,3,88040297,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF34,Superfamily_domains:SSF81321		R/K		A	low	452/3074	1.50E-05	getma.org/?cm=msa&ty=f&p=5HT1F_HUMAN&rb=40&re=347&var=R133K	tolerated(1)	Q9P2Q4_HUMAN			YES	HTR1F,missense_variant,p.Arg133Lys,ENST00000319595,NM_000866.3;					0,1		MODERATE	398/1101	R133K	5HT1F_HUMAN			Transcript		possibly_damaging(0.5)	.	ENSP00000322924	8.24E-06	CCDS2920.1			1	
GRIK5	0	LGGM	GRCh37	19	42563536	42563536	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	15	15	.	.	ENST00000262895.3:c.652G>A	p.Ala218Thr	p.A218T	ENST00000262895	NM_002088.4	218	Gcc/Acc	0	1	1	UPI000013D353	0	getma.org/pdb.php?prot=GRIK5_HUMAN&from=40&to=381&var=A218T	ENST00000262895		ENSG00000105737	4583		30	1.95		HGNC	p.A218T		GRIK5		SNV							ENST00000262895	protein_coding	getma.org/?cm=var&var=hg19,19,42563536,C,T&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF34,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822		A/T		T	medium	652/3493		getma.org/?cm=msa&ty=f&p=GRIK5_HUMAN&rb=40&re=381&var=A218T	tolerated(0.17)				YES	GRIK5,missense_variant,p.Ala218Thr,ENST00000262895,NM_002088.4;GRIK5,missense_variant,p.Ala218Thr,ENST00000301218,;GRIK5,missense_variant,p.Ala218Thr,ENST00000593562,;GRIK5,3_prime_UTR_variant,,ENST00000594528,;							MODERATE	652/2943	A218T	GRIK5_HUMAN			Transcript		possibly_damaging(0.64)	.	ENSP00000262895		CCDS12595.1			1	
FCRL1	0	LGGM	GRCh37	1	157766903	157766903	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	32	15	.	.	ENST00000368176.3:c.1206T>A	p.His402Gln	p.H402Q	ENST00000368176	NM_001159398.1	402	caT/caA	0	1	1	UPI000006E5BD	0		ENST00000368176		ENSG00000163534	18509		47			HGNC	p.H402Q		FCRL1		SNV							ENST00000368176	protein_coding			hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF56		H/Q		T		1274/2596			tolerated(0.39)				YES	FCRL1,missense_variant,p.Ile360Lys,ENST00000358292,NM_001159397.1;FCRL1,missense_variant,p.His402Gln,ENST00000368176,NM_001159398.1,NM_052938.4;FCRL1,missense_variant,p.His401Gln,ENST00000491942,;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,;FCRL1,non_coding_transcript_exon_variant,,ENST00000495126,;							MODERATE	1206/1290		FCRL1_HUMAN			Transcript		benign(0.008)	.	ENSP00000357158		CCDS1170.1			1	
USP38	0	LGGM	GRCh37	4	144116940	144116940	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	22	15	.	.	ENST00000307017.4:c.890T>G	p.Leu297Arg	p.L297R	ENST00000307017	NM_032557.5	297	cTg/cGg	0	1	1	UPI0000047AF9	0	NA	ENST00000307017		ENSG00000170185	20067		37	1.895		HGNC	p.L216R		USP38		SNV							ENST00000511739	protein_coding	getma.org/?cm=var&var=hg19,4,144116940,T,G&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF386		L/R		G	low	1396/7009		getma.org/?cm=msa&ty=f&p=UBP38_HUMAN&rb=201&re=400&var=L297R	deleterious(0)	B3KSB9_HUMAN			YES	USP38,missense_variant,p.Leu297Arg,ENST00000307017,NM_032557.5;USP38,missense_variant,p.Leu297Arg,ENST00000510377,;USP38,missense_variant,p.Leu216Arg,ENST00000511739,;							MODERATE	890/3129	L297R	UBP38_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000303434		CCDS3758.1			1	
CCM2L	0	LGGM	GRCh37	20	30617557	30617557	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	41	15	.	.	ENST00000262659.8:c.1254G>C	p.Gly418=	p.G418=	ENST00000262659	NM_080625.3	418	ggG/ggC	0	1	1	UPI0000070921	0		ENST00000262659		ENSG00000101331	16153		56			HGNC	p.E440Q		CCM2L		SNV							ENST00000300415	protein_coding			Low_complexity_(Seg):seg		G		C		1259/2523							YES	CCM2L,missense_variant,p.Glu440Gln,ENST00000300415,;CCM2L,missense_variant,p.Glu193Gln,ENST00000452892,;CCM2L,synonymous_variant,p.=,ENST00000262659,NM_080625.3;RP1-310O13.7,intron_variant,,ENST00000449519,;							LOW	1254/1302		CCM2L_HUMAN			Transcript			.	ENSP00000262659		CCDS13195.1			1	
ITGA2B	0	LGGM	GRCh37	17	42457474	42457474	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	24	15	.	.	ENST00000262407.5:c.1648C>A	p.Arg550=	p.R550=	ENST00000262407	NM_000419.3	550	Cgg/Agg	0	1	1	UPI00001868B8	0		ENST00000262407		ENSG00000005961	6138		39			HGNC	p.R550R	rs748977341	ITGA2B		SNV			1				ENST00000353281	protein_coding			Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF73,Superfamily_domains:SSF69179		R		T		1680/3333	3.06E-05			Q6LDK5_HUMAN,I6XCH0_HUMAN,F1C626_HUMAN			YES	ITGA2B,synonymous_variant,p.=,ENST00000262407,NM_000419.3;ITGA2B,synonymous_variant,p.=,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,;							LOW	1648/3120		ITA2B_HUMAN			Transcript			.	ENSP00000262407	1.65E-05	CCDS32665.1			1	
SACS	0	LGGM	GRCh37	13	23929576	23929576	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	25	16	.	.	ENST00000382298.3:c.1175G>A	p.Trp392Ter	p.W392*	ENST00000382298	NM_014363.5	392	tGg/tAg	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		41	0		HGNC	p.W16X		SACS		SNV			1				ENST00000423156	protein_coding	getma.org/?cm=var&var=hg19,13,23929576,C,T&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		W/*		T	NA	1449/15324		NA						SACS,stop_gained,p.Trp392Ter,ENST00000382298,NM_014363.5;SACS,stop_gained,p.Trp392Ter,ENST00000382292,;SACS,stop_gained,p.Trp292Ter,ENST00000455470,;SACS,stop_gained,p.Trp16Ter,ENST00000423156,;SACS,5_prime_UTR_variant,,ENST00000402364,NM_001278055.1;SACS,upstream_gene_variant,,ENST00000476776,;							HIGH	1175/13740	W392*	SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
PMVK	0	LGGM	GRCh37	1	154901531	154901531	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	51	16	.	.	ENST00000368467.3:c.281A>T	p.Lys94Met	p.K94M	ENST00000368467	NM_006556.3	94	aAg/aTg	0	1	1	UPI000013E263	0	getma.org/pdb.php?prot=PMVK_HUMAN&from=14&to=129&var=K94M	ENST00000368467		ENSG00000163344	9141		67	1.1		HGNC	p.K94M		PMVK		SNV							ENST00000368467	protein_coding	getma.org/?cm=var&var=hg19,1,154901531,T,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF04275,PIRSF_domain:PIRSF036639,hmmpanther:PTHR13101,hmmpanther:PTHR13101:SF1,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01223		K/M		A	low	587/1280		getma.org/?cm=msa&ty=f&p=PMVK_HUMAN&rb=14&re=129&var=K94M	tolerated(0.11)	Q6FGV9_HUMAN			YES	PMVK,missense_variant,p.Lys94Met,ENST00000368467,NM_006556.3;							MODERATE	281/579	K94M	PMVK_HUMAN			Transcript		possibly_damaging(0.684)	.	ENSP00000357452		CCDS1073.1			1	
NACA2	0	LGGM	GRCh37	17	59668488	59668488	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	38	16	.	.	ENST00000521764.1:c.54G>T	p.Gln18His	p.Q18H	ENST00000521764	NM_199290.3	18	caG/caT	0	1	1	UPI0000070B04	0	NA	ENST00000521764		ENSG00000253506	23290		54	1.79		HGNC	p.Q18H		NACA2		SNV							ENST00000521764	protein_coding	getma.org/?cm=var&var=hg19,17,59668488,C,A&fts=all		PIRSF_domain:PIRSF015901,hmmpanther:PTHR21713:SF2,hmmpanther:PTHR21713		Q/H		A	low	76/770		getma.org/?cm=msa&ty=f&p=NACA2_HUMAN&rb=1&re=72&var=Q18H	deleterious(0.01)				YES	NACA2,missense_variant,p.Gln18His,ENST00000521764,NM_199290.3;AC002994.1,non_coding_transcript_exon_variant,,ENST00000447590,;							MODERATE	54/648	Q18H	NACA2_HUMAN			Transcript		benign(0.133)	.	ENSP00000427802		CCDS11630.1			1	
RGS5	0	LGGM	GRCh37	1	163131760	163131760	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	18	16	.	.	ENST00000530507.1:c.162G>A	p.Ser54=	p.S54=	ENST00000530507		54	tcG/tcA	0	1		UPI0000044573	0		ENST00000313961		ENSG00000143248	10001		34			HGNC	p.S74S	rs758946562	RGS5		SNV							ENST00000367903	protein_coding			hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF42,Superfamily_domains:SSF48097		S		T		440/5862	4.50E-05							RGS5,synonymous_variant,p.=,ENST00000313961,NM_003617.3,NM_001254749.1;RGS5,synonymous_variant,p.=,ENST00000367903,;RGS5,synonymous_variant,p.=,ENST00000530507,;RGS5,synonymous_variant,p.=,ENST00000531476,;RGS5,intron_variant,,ENST00000527988,NM_001195303.2,NM_001254748.1;RP11-267N12.1,intron_variant,,ENST00000415437,;RGS5,non_coding_transcript_exon_variant,,ENST00000534288,;RGS5,non_coding_transcript_exon_variant,,ENST00000531954,;RGS5,non_coding_transcript_exon_variant,,ENST00000428971,;RGS5,non_coding_transcript_exon_variant,,ENST00000530241,;RGS5,non_coding_transcript_exon_variant,,ENST00000525894,;							LOW	162/546		RGS5_HUMAN			Transcript			.	ENSP00000319308	2.47E-05	CCDS1244.1			1	
STAB2	0	LGGM	GRCh37	12	104049085	104049085	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	97	17	.	.	ENST00000388887.2:c.1608G>A	p.Glu536=	p.E536=	ENST00000388887	NM_017564.9	536	gaG/gaA	0	1	1	UPI00001ADDF4	0		ENST00000388887		ENSG00000136011	18629		114			HGNC	p.E536E		STAB2		SNV							ENST00000388887	protein_coding			PROSITE_profiles:PS50213,hmmpanther:PTHR24038:SF0,hmmpanther:PTHR24038,Pfam_domain:PF02469,Gene3D:2.30.180.10,Superfamily_domains:SSF82153		E		A		1812/8251				H0YIF3_HUMAN			YES	STAB2,splice_region_variant,p.=,ENST00000388887,NM_017564.9;RP11-341G23.2,intron_variant,,ENST00000551905,;							LOW	1608/7656		STAB2_HUMAN			Transcript			.	ENSP00000373539		CCDS31888.1			1	
PXDNL	0	LGGM	GRCh37	8	52320914	52320914	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	45	17	.	.	ENST00000356297.4:c.3270A>T	p.Arg1090Ser	p.R1090S	ENST00000356297	NM_144651.4	1090	agA/agT	0	1	1	UPI0001AE6ED6	0	getma.org/pdb.php?prot=PXDNL_HUMAN&from=727&to=1272&var=R1090S	ENST00000356297		ENSG00000147485	26359		62	2.615		HGNC	p.R356S		PXDNL		SNV							ENST00000522628	protein_coding	getma.org/?cm=var&var=hg19,8,52320914,T,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		R/S		A	medium	3371/4805		getma.org/?cm=msa&ty=f&p=PXDNL_HUMAN&rb=727&re=1272&var=R1090S	deleterious(0)				YES	PXDNL,missense_variant,p.Arg1090Ser,ENST00000356297,NM_144651.4;PXDNL,missense_variant,p.Arg1090Ser,ENST00000543296,;PXDNL,missense_variant,p.Arg209Ser,ENST00000522933,;PXDNL,missense_variant,p.Arg356Ser,ENST00000522628,;							MODERATE	3270/4392	R1090S	PXDNL_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000348645		CCDS47855.1			1	
ZNF438	0	LGGM	GRCh37	10	31137941	31137941	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	44	17	.	.	ENST00000436087.2:c.1393G>C	p.Gly465Arg	p.G465R	ENST00000436087	NM_001143766.1	465	Gga/Cga	0	1		UPI00001B3D8F	0	NA	ENST00000361310		ENSG00000183621	21029		61	1.15		HGNC	p.G465R		ZNF438		SNV							ENST00000442986	protein_coding	getma.org/?cm=var&var=hg19,10,31137941,C,G&fts=all		hmmpanther:PTHR24397,hmmpanther:PTHR24397:SF2		G/R		G	low	1723/3144		getma.org/?cm=msa&ty=f&p=ZN438_HUMAN&rb=460&re=520&var=G465R	tolerated(0.07)	Q5T427_HUMAN				ZNF438,missense_variant,p.Gly455Arg,ENST00000452305,NM_001143770.1;ZNF438,missense_variant,p.Gly465Arg,ENST00000436087,NM_001143766.1;ZNF438,missense_variant,p.Gly416Arg,ENST00000538351,NM_001143769.1;ZNF438,missense_variant,p.Gly465Arg,ENST00000442986,NM_182755.2,NM_001143768.1;ZNF438,missense_variant,p.Gly455Arg,ENST00000331737,NM_001143771.1;ZNF438,missense_variant,p.Gly465Arg,ENST00000361310,;ZNF438,missense_variant,p.Gly465Arg,ENST00000413025,NM_001143767.1;ZNF438,missense_variant,p.Gly455Arg,ENST00000444692,;ZNF438,missense_variant,p.Gly29Arg,ENST00000375311,;ZNF438,intron_variant,,ENST00000609683,;							MODERATE	1393/2487	G465R	ZN438_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000354663		CCDS7168.1			1	
TPP2	0	LGGM	GRCh37	13	103299687	103299687	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	17	.	.	ENST00000376065.4:c.2621C>T	p.Pro874Leu	p.P874L	ENST00000376065	NM_003291.2	874	cCa/cTa	0	1	1	UPI0000001C91	0	getma.org/pdb.php?prot=TPP2_HUMAN&from=773&to=966&var=P874L	ENST00000376065		ENSG00000134900	12016		34	2.685		HGNC	p.P874L	COSM1706982	TPP2		SNV						1	ENST00000376065	protein_coding	getma.org/?cm=var&var=hg19,13,103299687,C,T&fts=all		Pfam_domain:PF12580		P/L		T	medium	2657/3931		getma.org/?cm=msa&ty=f&p=TPP2_HUMAN&rb=773&re=966&var=P874L	deleterious(0)				YES	TPP2,missense_variant,p.Pro874Leu,ENST00000376052,;TPP2,missense_variant,p.Pro874Leu,ENST00000376065,NM_003291.2;TPP2,upstream_gene_variant,,ENST00000490420,;					1		MODERATE	2621/3750	P874L	TPP2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000365233		CCDS9502.1			1	
HOMEZ	0	LGGM	GRCh37	14	23745682	23745682	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	42	17	.	.	ENST00000357460.5:c.755C>T	p.Thr252Ile	p.T252I	ENST00000357460	NM_020834.2	252	aCa/aTa	0	1	1	UPI0000EE4A53	0	NA	ENST00000357460		ENSG00000215271	20164		59	0.46		HGNC	p.T254I		HOMEZ		SNV							ENST00000561013	protein_coding	getma.org/?cm=var&var=hg19,14,23745682,G,A&fts=all		hmmpanther:PTHR15467		T/I		A	neutral	920/4936		getma.org/?cm=msa&ty=f&p=HOMEZ_HUMAN&rb=134&re=350&var=T252I	tolerated_low_confidence(0.1)	B4DLB7_HUMAN			YES	HOMEZ,missense_variant,p.Thr252Ile,ENST00000357460,NM_020834.2;HOMEZ,missense_variant,p.Thr254Ile,ENST00000561013,;HOMEZ,missense_variant,p.Thr254Ile,ENST00000431326,;HOMEZ,missense_variant,p.Thr82Ile,ENST00000606731,;C14orf164,downstream_gene_variant,,ENST00000399910,;C14orf164,downstream_gene_variant,,ENST00000399905,;C14orf164,downstream_gene_variant,,ENST00000430154,;HOMEZ,downstream_gene_variant,,ENST00000606006,;C14orf164,downstream_gene_variant,,ENST00000492621,;C14orf164,downstream_gene_variant,,ENST00000492355,;C14orf164,downstream_gene_variant,,ENST00000470818,;							MODERATE	755/1653	T252I	HOMEZ_HUMAN			Transcript		benign(0.01)	.	ENSP00000350049		CCDS45085.1			1	
SETX	0	LGGM	GRCh37	9	135203703	135203703	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	37	17	.	.	ENST00000224140.5:c.3282A>T	p.Gln1094His	p.Q1094H	ENST00000224140	NM_015046.5	1094	caA/caT	0	1	1	UPI0000210D28	0	NA	ENST00000224140		ENSG00000107290	445		54	0.625		HGNC	p.Q1094H		SETX		SNV			1				ENST00000393220	protein_coding	getma.org/?cm=var&var=hg19,9,135203703,T,A&fts=all		hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF336		Q/H		A	neutral	3465/11100		getma.org/?cm=msa&ty=f&p=SETX_HUMAN&rb=1022&re=1221&var=Q1094H	deleterious(0.02)				YES	SETX,missense_variant,p.Gln1094His,ENST00000372169,;SETX,missense_variant,p.Gln1094His,ENST00000224140,NM_015046.5;SETX,missense_variant,p.Gln1094His,ENST00000393220,;							MODERATE	3282/8034	Q1094H	SETX_HUMAN			Transcript		benign(0.06)	.	ENSP00000224140		CCDS6947.1			1	
KCNJ5-AS1	0	LGGM	GRCh37	11	128772598	128772598	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	17	17	.	.	ENST00000310799.3:c.292A>T	p.Asn98Tyr	p.N98Y	ENST00000310799	NM_145013.2	98	Aac/Tac	0	1	1	UPI000006E1FD	0	NA	ENST00000310799		ENSG00000174370	28584		34	0		HGNC	p.N98Y		C11orf45		SNV							ENST00000524878	protein_coding	getma.org/?cm=var&var=hg19,11,128772598,T,A&fts=all				N/Y		A	neutral	486/3624		getma.org/?cm=msa&ty=f&p=CK045_HUMAN&rb=1&re=145&var=N98Y	deleterious_low_confidence(0)				YES	C11orf45,missense_variant,p.Asn98Tyr,ENST00000310799,NM_145013.2,NM_001256088.1;C11orf45,missense_variant,p.Asn98Tyr,ENST00000524878,;KCNJ5,intron_variant,,ENST00000529694,NM_000890.3;KCNJ5,intron_variant,,ENST00000338350,;C11orf45,non_coding_transcript_exon_variant,,ENST00000530168,;							MODERATE	292/438	N98Y	CK045_HUMAN			Transcript		possibly_damaging(0.844)	.	ENSP00000307879		CCDS8478.1			1	
ABCA1	0	LGGM	GRCh37	9	107562849	107562849	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	46	17	.	.	ENST00000374736.3:c.4715G>A	p.Arg1572Gln	p.R1572Q	ENST00000374736	NM_005502.3	1572	cGa/cAa	0	1	1	UPI000013E441	0	NA	ENST00000374736		ENSG00000165029	29		63	1.905		HGNC	p.R1572Q	rs769951411	ABCA1		SNV			1				ENST00000374736	protein_coding	getma.org/?cm=var&var=hg19,9,107562849,C,T&fts=all		hmmpanther:PTHR19229:SF34,hmmpanther:PTHR19229,Pfam_domain:PF12698		R/Q		T	medium	5110/10494	1.50E-05	getma.org/?cm=msa&ty=f&p=ABCA1_HUMAN&rb=1344&re=1869&var=R1572Q	tolerated(0.36)	Q9NS76_HUMAN,Q9NP93_HUMAN,Q9H002_HUMAN			YES	ABCA1,missense_variant,p.Arg1572Gln,ENST00000374736,NM_005502.3;							MODERATE	4715/6786	R1572Q	ABCA1_HUMAN			Transcript		benign(0.037)	.	ENSP00000363868	8.24E-06	CCDS6762.1			1	
ARMC9	0	LGGM	GRCh37	2	232209704	232209704	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	37	17	.	.	ENST00000349938.4:c.1896G>C	p.Gly632=	p.G632=	ENST00000349938	NM_025139.4	632	ggG/ggC	0	1	1	UPI00001AE7AC	0		ENST00000349938		ENSG00000135931	20730		54			HGNC	p.G632G		ARMC9		SNV							ENST00000349938	protein_coding			hmmpanther:PTHR14881		G		C		2090/2300				C9JW07_HUMAN			YES	ARMC9,synonymous_variant,p.=,ENST00000349938,NM_025139.4,NM_001271466.1;ARMC9,non_coding_transcript_exon_variant,,ENST00000483477,;ARMC9,3_prime_UTR_variant,,ENST00000428662,;ARMC9,non_coding_transcript_exon_variant,,ENST00000486787,;							LOW	1896/1998		ARMC9_HUMAN			Transcript			.	ENSP00000258417		CCDS2484.1			1	
GIT1	0	LGGM	GRCh37	17	27903290	27903290	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	33	18	.	.	ENST00000394869.3:c.1586G>T	p.Gly529Val	p.G529V	ENST00000394869	NM_001085454.1	529	gGg/gTg	0	1		UPI000013C867	0	NA	ENST00000225394		ENSG00000108262	4272		51	1.355		HGNC	p.G529V		GIT1		SNV							ENST00000394869	protein_coding	getma.org/?cm=var&var=hg19,17,27903290,C,A&fts=all		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF193		G/V		A	low	1808/3768		getma.org/?cm=msa&ty=f&p=GIT1_HUMAN&rb=359&re=558&var=G520V	tolerated(0.08)	K7EIX6_HUMAN,B4DS81_HUMAN				GIT1,missense_variant,p.Gly520Val,ENST00000225394,NM_014030.3;GIT1,missense_variant,p.Gly529Val,ENST00000394869,NM_001085454.1;GIT1,missense_variant,p.Gly529Val,ENST00000581348,;GIT1,missense_variant,p.Gly520Val,ENST00000579937,;TP53I13,downstream_gene_variant,,ENST00000301057,NM_138349.2;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,upstream_gene_variant,,ENST00000578266,;TP53I13,downstream_gene_variant,,ENST00000378818,;RP11-68I3.2,intron_variant,,ENST00000581474,;GIT1,missense_variant,p.Gly55Val,ENST00000578670,;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,;GIT1,non_coding_transcript_exon_variant,,ENST00000491377,;TP53I13,downstream_gene_variant,,ENST00000579674,;GIT1,downstream_gene_variant,,ENST00000579536,;TP53I13,downstream_gene_variant,,ENST00000577934,;GIT1,downstream_gene_variant,,ENST00000581925,;GIT1,downstream_gene_variant,,ENST00000586574,;							MODERATE	1559/2286	G520V	GIT1_HUMAN			Transcript		benign(0.339)	.	ENSP00000225394		CCDS11250.1			1	
GPR63	0	LGGM	GRCh37	6	97247413	97247413	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	32	18	.	.	ENST00000229955.3:c.195T>A	p.Ala65=	p.A65=	ENST00000229955	NM_030784.3	65	gcT/gcA	0	1	1	UPI0000037594	0		ENST00000229955		ENSG00000112218	13302		50			HGNC	p.A65A		GPR63		SNV							ENST00000417980	protein_coding			hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Superfamily_domains:SSF81321		A		T		541/5952				A8K1C4_HUMAN			YES	GPR63,synonymous_variant,p.=,ENST00000229955,NM_030784.3,NM_001143957.2;GPR63,synonymous_variant,p.=,ENST00000417980,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;							LOW	195/1260		GPR63_HUMAN			Transcript			.	ENSP00000229955		CCDS5036.1			1	
SUPT5H	0	LGGM	GRCh37	19	39964716	39964716	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	36	18	.	.	ENST00000599117.1:c.2606A>T	p.Gln869Leu	p.Q869L	ENST00000599117		869	cAg/cTg	0	1		UPI000006D81A	0	NA	ENST00000432763		ENSG00000196235	11469		54	1.5		HGNC	p.Q869L		SUPT5H		SNV							ENST00000598725	protein_coding	getma.org/?cm=var&var=hg19,19,39964716,A,T&fts=all		hmmpanther:PTHR11125,Pfam_domain:PF12815,PIRSF_domain:PIRSF036945,SMART_domains:SM01104		Q/L		T	low	2785/3710		getma.org/?cm=msa&ty=f&p=SPT5H_HUMAN&rb=754&re=878&var=Q869L	tolerated(0.13)	M0R2M5_HUMAN,M0R105_HUMAN,B4E0Q4_HUMAN,B4DZJ7_HUMAN				SUPT5H,missense_variant,p.Gln869Leu,ENST00000599117,;SUPT5H,missense_variant,p.Gln865Leu,ENST00000359191,;SUPT5H,missense_variant,p.Gln869Leu,ENST00000598725,NM_003169.3;SUPT5H,missense_variant,p.Gln869Leu,ENST00000432763,NM_001111020.2,NM_001130824.1;SUPT5H,missense_variant,p.Gln865Leu,ENST00000402194,NM_001130825.1;SUPT5H,non_coding_transcript_exon_variant,,ENST00000599335,;SUPT5H,downstream_gene_variant,,ENST00000598117,;SUPT5H,upstream_gene_variant,,ENST00000600818,;SUPT5H,downstream_gene_variant,,ENST00000596208,;							MODERATE	2606/3264	Q869L	SPT5H_HUMAN			Transcript		benign(0.342)	.	ENSP00000404029		CCDS12536.1			1	
KCNB2	0	LGGM	GRCh37	8	73849449	73849449	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	34	18	.	.	ENST00000523207.1:c.1859C>A	p.Pro620Gln	p.P620Q	ENST00000523207	NM_004770.2	620	cCg/cAg	0	1	1	UPI000012DC85	0	NA	ENST00000523207		ENSG00000182674	6232		52	1.525		HGNC	p.P620Q		KCNB2		SNV							ENST00000523207	protein_coding	getma.org/?cm=var&var=hg19,8,73849449,C,A&fts=all		Pfam_domain:PF03521,Prints_domain:PR01515		P/Q		A	low	2447/3582		getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=471&re=760&var=P620Q	deleterious_low_confidence(0.03)				YES	KCNB2,missense_variant,p.Pro620Gln,ENST00000523207,NM_004770.2;							MODERATE	1859/2736	P620Q	KCNB2_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000430846		CCDS6209.1			1	
CUBN	0	LGGM	GRCh37	10	17142036	17142036	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	53	18	.	.	ENST00000377833.4:c.1733G>A	p.Gly578Asp	p.G578D	ENST00000377833	NM_001081.3	578	gGc/gAc	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=474&to=583&var=G578D	ENST00000377833		ENSG00000107611	2548		71	3.725		HGNC	p.G578D		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,17142036,C,T&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		G/D		T	high	1799/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=474&re=583&var=G578D	deleterious(0)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Gly578Asp,ENST00000377833,NM_001081.3;							MODERATE	1733/10872	G578D	CUBN_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000367064		CCDS7113.1			1	
LAMA2	0	LGGM	GRCh37	6	129475726	129475726	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	24	18	.	.	ENST00000421865.2:c.1104A>T	p.Ile368=	p.I368=	ENST00000421865	NM_001079823.1	368	atA/atT	0	1	1	UPI00003673E0	0		ENST00000421865		ENSG00000196569	6482		42			HGNC	p.I368I		LAMA2		SNV			1				ENST00000421865	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF00053,PROSITE_profiles:PS50027,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00180,Superfamily_domains:SSF57196		I		T		1153/9640				Q59H37_HUMAN			YES	LAMA2,synonymous_variant,p.=,ENST00000421865,NM_001079823.1,NM_000426.3;BMPR1APS1,downstream_gene_variant,,ENST00000403332,;							LOW	1104/9369		LAMA2_HUMAN			Transcript			.	ENSP00000400365		CCDS5138.1			1	
ADAM32	0	LGGM	GRCh37	8	39112002	39112002	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	37	18	.	.	ENST00000379907.4:c.1972A>T	p.Lys658Ter	p.K658*	ENST00000379907	NM_145004.5	658	Aaa/Taa	0	1	1	UPI000013F62F	0	NA	ENST00000379907		ENSG00000197140	15479		55	0		HGNC	p.K658X		ADAM32		SNV							ENST00000379907	protein_coding	getma.org/?cm=var&var=hg19,8,39112002,A,T&fts=all		hmmpanther:PTHR11905:SF24,hmmpanther:PTHR11905		K/*		T	NA	2099/2601		NA		E5RJY7_HUMAN			YES	ADAM32,stop_gained,p.Lys658Ter,ENST00000379907,NM_145004.5;ADAM32,stop_gained,p.Lys559Ter,ENST00000437682,;ADAM32,stop_gained,p.Lys552Ter,ENST00000519315,;ADAM32,non_coding_transcript_exon_variant,,ENST00000520691,;							HIGH	1972/2364	K658*	ADA32_HUMAN			Transcript			.	ENSP00000369238		CCDS47846.1			1	
POTEJ	0	LGGM	GRCh37	2	131415073	131415073	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	77	18	.	.	ENST00000409602.1:c.2740A>T	p.Ser914Cys	p.S914C	ENST00000409602	NM_001277083.1	914	Agc/Tgc	0	1	1	UPI0000DD7A4B	0	getma.org/pdb.php?prot=POTEJ_HUMAN&from=665&to=1038&var=S914C	ENST00000409602		ENSG00000222038	37094		95	0.58		HGNC	p.S914C	rs756689031	POTEJ		SNV				0.000853			ENST00000409602	protein_coding	getma.org/?cm=var&var=hg19,2,131415073,A,T&fts=all		Gene3D:3.90.640.10,Pfam_domain:PF00022,Prints_domain:PR00190,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,SMART_domains:SM00268,Superfamily_domains:SSF53067		S/C		T	neutral	2792/3383		getma.org/?cm=msa&ty=f&p=POTEJ_HUMAN&rb=665&re=1038&var=S914C	deleterious_low_confidence(0)				YES	POTEJ,missense_variant,p.Ser914Cys,ENST00000409602,NM_001277083.1;AC140481.1,downstream_gene_variant,,ENST00000535037,;							MODERATE	2740/3117	S914C	POTEJ_HUMAN			Transcript		benign(0.38)	common_variant	ENSP00000387176	6.71E-05	CCDS59432.1			1	
MRGPRX3	0	LGGM	GRCh37	11	18158884	18158884	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	54	19	.	.	ENST00000396275.2:c.135C>T	p.Asn45=	p.N45=	ENST00000396275	NM_054031.3	45	aaC/aaT	0	1	1	UPI0000061FCF	0		ENST00000396275		ENSG00000179826	17980	0.000259	73			HGNC	p.N45N	rs566088854	MRGPRX3	6.06E-05	SNV							ENST00000531264	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF22,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		N		T		496/1639	1.50E-05			E9PPY5_HUMAN			YES	MRGPRX3,synonymous_variant,p.=,ENST00000396275,NM_054031.3;MRGPRX3,synonymous_variant,p.=,ENST00000531264,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;							LOW	135/969		MRGX3_HUMAN			Transcript			.	ENSP00000379571	4.94E-05	CCDS7830.1	0.0011		1	
RPS6KB2	0	LGGM	GRCh37	11	67200297	67200297	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	33	19	.	.	ENST00000312629.5:c.605T>C	p.Leu202Pro	p.L202P	ENST00000312629	NM_003952.2	202	cTc/cCc	0	1	1	UPI00001FAD74	0	getma.org/pdb.php?prot=KS6B2_HUMAN&from=67&to=328&var=L202P	ENST00000312629		ENSG00000175634	10437		52	4.11		HGNC	p.L202P		RPS6KB2		SNV							ENST00000312629	protein_coding	getma.org/?cm=var&var=hg19,11,67200297,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351:SF39,hmmpanther:PTHR24351,PROSITE_patterns:PS00108,Pfam_domain:PF00069,Gene3D:1.10.510.10,PIRSF_domain:PIRSF000605,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/P		C	high	650/1726		getma.org/?cm=msa&ty=f&p=KS6B2_HUMAN&rb=67&re=328&var=L202P	deleterious(0)				YES	RPS6KB2,missense_variant,p.Leu202Pro,ENST00000312629,NM_003952.2;RPS6KB2,3_prime_UTR_variant,,ENST00000539188,;PTPRCAP,downstream_gene_variant,,ENST00000326294,NM_005608.2;RPS6KB2,downstream_gene_variant,,ENST00000524934,;AP003419.16,intron_variant,,ENST00000535922,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000524814,;RPS6KB2,3_prime_UTR_variant,,ENST00000528964,;RPS6KB2,3_prime_UTR_variant,,ENST00000556575,;RPS6KB2,3_prime_UTR_variant,,ENST00000420069,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000525088,;RPS6KB2,non_coding_transcript_exon_variant,,ENST00000526268,;RPS6KB2,intron_variant,,ENST00000525996,;RPS6KB2,upstream_gene_variant,,ENST00000531765,;RPS6KB2,downstream_gene_variant,,ENST00000530623,;RPS6KB2,downstream_gene_variant,,ENST00000525726,;							MODERATE	605/1449	L202P	KS6B2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000308413		CCDS41677.1			1	
GPR22	0	LGGM	GRCh37	7	107115592	107115592	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	46	19	.	.	ENST00000304402.4:c.1087C>T	p.His363Tyr	p.H363Y	ENST00000304402	NM_005295.2	363	Cac/Tac	0	1	1	UPI000013E975	0	getma.org/pdb.php?prot=GPR22_HUMAN&from=58&to=367&var=H363Y	ENST00000304402		ENSG00000172209	4477		65	1.955		HGNC	p.H363Y		GPR22		SNV							ENST00000304402	protein_coding	getma.org/?cm=var&var=hg19,7,107115592,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF1,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		H/Y		T	medium	2430/2936		getma.org/?cm=msa&ty=f&p=GPR22_HUMAN&rb=58&re=367&var=H363Y	deleterious(0)	Q59G39_HUMAN,A4D0R8_HUMAN			YES	GPR22,missense_variant,p.His363Tyr,ENST00000304402,NM_005295.2;COG5,intron_variant,,ENST00000393603,NM_001161520.1;COG5,intron_variant,,ENST00000347053,NM_181733.2;COG5,intron_variant,,ENST00000297135,NM_006348.3;COG5,intron_variant,,ENST00000475638,;COG5,intron_variant,,ENST00000484237,;GPR22,downstream_gene_variant,,ENST00000473300,;GPR22,downstream_gene_variant,,ENST00000496754,;							MODERATE	1087/1302	H363Y	GPR22_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000302676		CCDS5744.1			1	
TP53	0	LGGM	GRCh37	17	7579312	7579312	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	25	19	.	.	ENST00000269305.4:c.375G>A	p.Thr125=	p.T125=	ENST00000269305	NM_001126112.2	125	acG/acA	0	1	1	UPI000002ED67	0		ENST00000269305	pathogenic	ENSG00000141510	11998		44			HGNC	p.T125T	rs55863639,TP53_g.11606G>A,COSM43904,COSM292894,COSM292893,COSM3403299,COSM2744976	TP53		SNV			1			1,0,1,1,1,1,1	ENST00000508793	protein_coding			Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		T		T		565/2579				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			YES	TP53,splice_region_variant,p.=,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,splice_region_variant,p.=,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,splice_region_variant,p.=,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,splice_region_variant,p.=,ENST00000445888,;TP53,splice_region_variant,p.=,ENST00000359597,;TP53,splice_region_variant,p.=,ENST00000413465,;TP53,splice_region_variant,p.=,ENST00000508793,;TP53,splice_region_variant,p.=,ENST00000604348,;TP53,splice_region_variant,p.=,ENST00000503591,;TP53,intron_variant,,ENST00000509690,;TP53,intron_variant,,ENST00000514944,;TP53,upstream_gene_variant,,ENST00000576024,;TP53,upstream_gene_variant,,ENST00000574684,;TP53,splice_region_variant,,ENST00000505014,;TP53,upstream_gene_variant,,ENST00000510385,;TP53,upstream_gene_variant,,ENST00000504290,;TP53,upstream_gene_variant,,ENST00000504937,;					0,0,1,1,1,1,1		LOW	375/1182		P53_HUMAN			Transcript			.	ENSP00000269305		CCDS11118.1			1	25730903
MROH8	0	LGGM	GRCh37	20	35757522	35757522	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	19	19	.	.	ENST00000343811.4:c.1778G>T	p.Thr593=	p.T593=	ENST00000343811	NM_152503.4	593	acG/acT	0	1	1	UPI0000E5A31D	0		ENST00000343811		ENSG00000101353	16125		38			HGNC	p.T395T	rs566345990	MROH8		SNV							ENST00000217333	protein_coding		A:0	Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF4		T		A		1778/3425				Q5JYR0_HUMAN,Q5JYQ9_HUMAN	A:0.0014	A:0	YES	MROH8,synonymous_variant,p.=,ENST00000343811,NM_152503.4;MROH8,synonymous_variant,p.=,ENST00000400441,;MROH8,synonymous_variant,p.=,ENST00000441008,;MROH8,synonymous_variant,p.=,ENST00000217333,;MROH8,synonymous_variant,p.=,ENST00000417458,;MROH8,synonymous_variant,p.=,ENST00000400440,NM_213631.1;MROH8,synonymous_variant,p.=,ENST00000421643,NM_213632.1;		A:0.0002					LOW	1779/3210				A:0	Transcript			.	ENSP00000339971				A:0	1	
TENM3	0	LGGM	GRCh37	4	183601870	183601870	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	41	20	.	.	ENST00000511685.1:c.1814A>T	p.Lys605Ile	p.K605I	ENST00000511685		605	aAa/aTa	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		61	2.23		HGNC	p.K605I		TENM3		SNV			1				ENST00000406950	protein_coding	getma.org/?cm=var&var=hg19,4,183601870,A,T&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Gene3D:2.10.25.10,SMART_domains:SM00181		K/I		T	medium	1937/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=578&re=610&var=K605I	deleterious(0)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Lys605Ile,ENST00000511685,;TENM3,missense_variant,p.Lys605Ile,ENST00000406950,NM_001080477.1;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;TENM3,non_coding_transcript_exon_variant,,ENST00000507737,;							MODERATE	1814/8100	K605I	TEN3_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000424226		CCDS47165.1			1	
EXOSC1	0	LGGM	GRCh37	10	99196222	99196222	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	55	20	.	.	ENST00000370902.3:c.568C>T	p.Pro190Ser	p.P190S	ENST00000370902	NM_016046.3	190	Ccc/Tcc	0	1	1	UPI0000128542	0	NA	ENST00000370902		ENSG00000171311	17286		75	1.845		HGNC	p.P149S		EXOSC1		SNV							ENST00000370884	protein_coding	getma.org/?cm=var&var=hg19,10,99196222,G,A&fts=all		hmmpanther:PTHR12686,hmmpanther:PTHR12686:SF8		P/S		A	low	600/923		getma.org/?cm=msa&ty=f&p=EXOS1_HUMAN&rb=136&re=195&var=P190S	tolerated(0.07)				YES	EXOSC1,missense_variant,p.Pro190Ser,ENST00000370902,NM_016046.3;EXOSC1,missense_variant,p.Pro173Ser,ENST00000370886,;EXOSC1,missense_variant,p.Pro165Ser,ENST00000370885,;EXOSC1,missense_variant,p.Pro160Ser,ENST00000370884,;EXOSC1,missense_variant,p.Pro138Ser,ENST00000477692,;EXOSC1,3_prime_UTR_variant,,ENST00000485122,;PGAM1,downstream_gene_variant,,ENST00000334828,NM_002629.2;PGAM1,downstream_gene_variant,,ENST00000467867,;EXOSC1,downstream_gene_variant,,ENST00000471049,;EXOSC1,downstream_gene_variant,,ENST00000472345,;EXOSC1,downstream_gene_variant,,ENST00000476234,;							MODERATE	568/588	P190S	EXOS1_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000359939		CCDS7459.1			1	
AMT	0	LGGM	GRCh37	3	49457752	49457752	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	47	21	.	.	ENST00000273588.3:c.363C>T	p.Asn121=	p.N121=	ENST00000273588	NM_000481.3	121	aaC/aaT	0	1	1	UPI000012B35E	0		ENST00000273588		ENSG00000145020	473		68			HGNC	p.N24N	rs367604855,COSM4118496	AMT	0.000363	SNV	A:0		1			0,1	ENST00000546031	protein_coding			Gene3D:3.30.70.1400,Pfam_domain:PF01571,PIRSF_domain:PIRSF006487,hmmpanther:PTHR13847,hmmpanther:PTHR13847:SF5,Superfamily_domains:SSF103025,TIGRFAM_domain:TIGR00528		N	A:0.0005	A		666/2276	0.00039			B4DGG9_HUMAN,B3KTU4_HUMAN			YES	AMT,synonymous_variant,p.=,ENST00000273588,NM_000481.3;AMT,synonymous_variant,p.=,ENST00000538581,NM_001164711.1;AMT,synonymous_variant,p.=,ENST00000395338,NM_001164712.1;AMT,synonymous_variant,p.=,ENST00000427987,;AMT,synonymous_variant,p.=,ENST00000546031,;AMT,synonymous_variant,p.=,ENST00000430521,;AMT,intron_variant,,ENST00000458307,NM_001164710.1;NICN1,downstream_gene_variant,,ENST00000273598,NM_032316.3;TCTA,downstream_gene_variant,,ENST00000273590,NM_022171.2;NICN1,downstream_gene_variant,,ENST00000436744,;NICN1-AS1,upstream_gene_variant,,ENST00000424915,;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,;AMT,non_coding_transcript_exon_variant,,ENST00000462048,;TCTA,downstream_gene_variant,,ENST00000493381,;NICN1,downstream_gene_variant,,ENST00000422593,;AMT,3_prime_UTR_variant,,ENST00000399379,;AMT,non_coding_transcript_exon_variant,,ENST00000465925,;AMT,non_coding_transcript_exon_variant,,ENST00000478594,;AMT,non_coding_transcript_exon_variant,,ENST00000461210,;AMT,non_coding_transcript_exon_variant,,ENST00000476828,;AMT,intron_variant,,ENST00000495436,;NICN1,downstream_gene_variant,,ENST00000423832,;NICN1,downstream_gene_variant,,ENST00000497742,;AMT,upstream_gene_variant,,ENST00000476127,;NICN1,downstream_gene_variant,,ENST00000494057,;AMT,downstream_gene_variant,,ENST00000498571,;AMT,upstream_gene_variant,,ENST00000491800,;AMT,upstream_gene_variant,,ENST00000473163,;NICN1,downstream_gene_variant,,ENST00000461015,;					0,1		LOW	363/1212		GCST_HUMAN			Transcript			.	ENSP00000273588	0.000264	CCDS2797.1			1	
ZNF107	0	LGGM	GRCh37	7	64166798	64166798	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	27	21	.	.	ENST00000395391.1:c.116A>T	p.Tyr39Phe	p.Y39F	ENST00000395391		39	tAt/tTt	0	1		UPI000000DBC2	0	NA	ENST00000344930		ENSG00000196247	12887		48	0.69		HGNC	p.Y39F	COSM73388	ZNF107		SNV						1	ENST00000344930	protein_coding	getma.org/?cm=var&var=hg19,7,64166798,A,T&fts=all				Y/F		T	neutral	568/5174		getma.org/?cm=msa&ty=f&p=ZN107_HUMAN&rb=1&re=89&var=Y39F	tolerated(0.15)	Q9H3U2_HUMAN,C9JSF9_HUMAN				ZNF107,missense_variant,p.Tyr39Phe,ENST00000395391,;ZNF107,missense_variant,p.Tyr39Phe,ENST00000423627,;ZNF107,missense_variant,p.Tyr39Phe,ENST00000344930,NM_001013746.1,NM_001282360.1,NM_001282359.1;ZNF107,missense_variant,p.Tyr39Phe,ENST00000360117,NM_016220.3;					1		MODERATE	116/2352	Y39F	ZN107_HUMAN			Transcript		benign(0.122)	.	ENSP00000343443		CCDS5527.1			1	
PHF7	0	LGGM	GRCh37	3	52456291	52456291	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	30	21	.	.	ENST00000327906.3:c.734A>G	p.Tyr245Cys	p.Y245C	ENST00000327906	NM_016483.5	245	tAt/tGt	0	1	1	UPI000007190E	0	getma.org/pdb.php?prot=PHF7_HUMAN&from=146&to=345&var=Y245C	ENST00000327906		ENSG00000010318	18458		51	2.08		HGNC	p.Y245C		PHF7		SNV							ENST00000478707	protein_coding	getma.org/?cm=var&var=hg19,3,52456291,A,G&fts=all		hmmpanther:PTHR12420:SF11,hmmpanther:PTHR12420,Gene3D:3.30.40.10,Superfamily_domains:SSF57903		Y/C		G	medium	1394/2130		getma.org/?cm=msa&ty=f&p=PHF7_HUMAN&rb=146&re=345&var=Y245C	deleterious(0)	C9J4W0_HUMAN			YES	PHF7,missense_variant,p.Tyr245Cys,ENST00000327906,NM_016483.5;PHF7,missense_variant,p.Tyr205Cys,ENST00000461861,;PHF7,intron_variant,,ENST00000347025,NM_001278221.1;PHF7,intron_variant,,ENST00000465863,;PHF7,downstream_gene_variant,,ENST00000472337,;PHF7,non_coding_transcript_exon_variant,,ENST00000498509,;PHF7,non_coding_transcript_exon_variant,,ENST00000459935,;							MODERATE	734/1146	Y245C	PHF7_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000333024		CCDS2854.1			1	
C12orf55	0	LGGM	GRCh37	12	97052121	97052121	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	64	21	.	.	ENST00000524981.4:c.5457G>A	p.Glu1819=	p.E1819=	ENST00000524981		1819	gaG/gaA	0	1	1	UPI0001F77A4D	0		ENST00000524981		ENSG00000188596	26456		85			HGNC	p.E1819E		C12orf55		SNV							ENST00000524981	protein_coding					E		A		5480/9766				R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,synonymous_variant,p.=,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							LOW	5457/9291					Transcript			.	ENSP00000431759					1	
C14orf23	0	LGGM	GRCh37	14	29261328	29261328	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	51	22	.	.	ENST00000399387.4:c.365C>A	p.Thr122Lys	p.T122K	ENST00000399387		122	aCa/aAa	0	1	1	UPI0000160243	0		ENST00000399387		ENSG00000186960	19828		73			HGNC	p.T122K	rs765393704	C14orf23	0.000132	SNV							ENST00000399387	protein_coding			Low_complexity_(Seg):seg		T/K		A		469/1575			deleterious_low_confidence(0)				YES	C14orf23,missense_variant,p.Thr122Lys,ENST00000399387,;C14orf23,intron_variant,,ENST00000548213,;C14orf23,intron_variant,,ENST00000550266,;							MODERATE	365/504		CN023_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000382318	4.94E-05				1	
DOPEY1	0	LGGM	GRCh37	6	83848716	83848716	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	32	22	.	.	ENST00000349129.2:c.4955G>A	p.Cys1652Tyr	p.C1652Y	ENST00000349129	NM_015018.3	1652	tGt/tAt	0	1	1	UPI00001C1574	0	NA	ENST00000349129		ENSG00000083097	21194		54	-1.495		HGNC	p.C1652Y		DOPEY1		SNV							ENST00000349129	protein_coding	getma.org/?cm=var&var=hg19,6,83848716,G,A&fts=all		hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		C/Y		A	neutral	5215/8210		getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=1360&re=2463&var=C1652Y	tolerated(1)				YES	DOPEY1,missense_variant,p.Cys1652Tyr,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Cys1643Tyr,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Cys1633Tyr,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000493541,;							MODERATE	4955/7398	C1652Y	DOP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000195654		CCDS4996.1			1	
TTC7B	0	LGGM	GRCh37	14	91124680	91124680	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	25	22	.	.	ENST00000328459.6:c.1204C>T	p.Gln402Ter	p.Q402*	ENST00000328459	NM_001010854.1	402	Cag/Tag	0	1	1	UPI00001FD9F0	0	NA	ENST00000328459		ENSG00000165914	19858		47	0		HGNC	p.Q402X		TTC7B		SNV							ENST00000357056	protein_coding	getma.org/?cm=var&var=hg19,14,91124680,G,A&fts=all		Superfamily_domains:SSF48452,SMART_domains:SM00028,Pfam_domain:PF13371,Gene3D:1.25.40.10,hmmpanther:PTHR23083:SF365,hmmpanther:PTHR23083,PROSITE_profiles:PS50293,PROSITE_profiles:PS50005		Q/*		A	NA	1326/3433		NA		G3V3E4_HUMAN,B3KX34_HUMAN			YES	TTC7B,stop_gained,p.Gln402Ter,ENST00000357056,;TTC7B,stop_gained,p.Gln402Ter,ENST00000328459,NM_001010854.1;TTC7B,stop_gained,p.Gln72Ter,ENST00000554462,;TTC7B,upstream_gene_variant,,ENST00000556490,;TTC7B,stop_gained,p.Gln143Ter,ENST00000555005,;TTC7B,intron_variant,,ENST00000555239,;TTC7B,upstream_gene_variant,,ENST00000556749,;							HIGH	1204/2532	Q402*	TTC7B_HUMAN			Transcript			.	ENSP00000336127		CCDS32140.1			1	
CCDC66	0	LGGM	GRCh37	3	56597900	56597900	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	37	23	.	.	ENST00000394672.3:c.291A>G	p.Lys97=	p.K97=	ENST00000394672	NM_001141947.1	97	aaA/aaG	0	1	1	UPI000020ADBC	0		ENST00000394672		ENSG00000180376	27709		60			HGNC	p.K97K		CCDC66		SNV							ENST00000538560	protein_coding			hmmpanther:PTHR22736,hmmpanther:PTHR22736:SF1		K		G		361/3096				F8WCY0_HUMAN			YES	CCDC66,synonymous_variant,p.=,ENST00000394672,NM_001141947.1,NM_001012506.4;CCDC66,synonymous_variant,p.=,ENST00000436465,;CCDC66,synonymous_variant,p.=,ENST00000326595,;CCDC66,synonymous_variant,p.=,ENST00000538560,;CCDC66,synonymous_variant,p.=,ENST00000422222,;CCDC66,non_coding_transcript_exon_variant,,ENST00000442522,;CCDC66,non_coding_transcript_exon_variant,,ENST00000469966,;CCDC66,non_coding_transcript_exon_variant,,ENST00000472582,;CCDC66,non_coding_transcript_exon_variant,,ENST00000460838,;CCDC66,non_coding_transcript_exon_variant,,ENST00000459746,;CCDC66,intron_variant,,ENST00000484623,;CCDC66,synonymous_variant,p.=,ENST00000471681,;CCDC66,synonymous_variant,p.=,ENST00000341455,;CCDC66,3_prime_UTR_variant,,ENST00000434467,;CCDC66,3_prime_UTR_variant,,ENST00000422788,;CCDC66,non_coding_transcript_exon_variant,,ENST00000473322,;CCDC66,intron_variant,,ENST00000439445,;CCDC66,upstream_gene_variant,,ENST00000482673,;CCDC66,upstream_gene_variant,,ENST00000494672,;CCDC66,downstream_gene_variant,,ENST00000487739,;CCDC66,upstream_gene_variant,,ENST00000484441,;							LOW	291/2847		CCD66_HUMAN			Transcript			.	ENSP00000378167		CCDS46852.1			1	
SLITRK5	0	LGGM	GRCh37	13	88329277	88329277	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	43	23	.	.	ENST00000325089.6:c.1634T>C	p.Val545Ala	p.V545A	ENST00000325089	NM_015567.1	545	gTg/gCg	0	1	1	UPI000015F6F7	0	getma.org/pdb.php?prot=SLIK5_HUMAN&from=505&to=564&var=V545A	ENST00000325089		ENSG00000165300	20295		66	-0.275		HGNC	p.V304A		SLITRK5		SNV							ENST00000400028	protein_coding	getma.org/?cm=var&var=hg19,13,88329277,T,C&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13855,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10,SMART_domains:SM00369,Superfamily_domains:SSF52058		V/A		C	neutral	1853/4447		getma.org/?cm=msa&ty=f&p=SLIK5_HUMAN&rb=505&re=564&var=V545A	deleterious(0.02)				YES	SLITRK5,missense_variant,p.Val545Ala,ENST00000325089,NM_015567.1;SLITRK5,missense_variant,p.Val304Ala,ENST00000400028,;							MODERATE	1634/2877	V545A	SLIK5_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000366283		CCDS9465.1			1	
C12orf55	0	LGGM	GRCh37	12	97052104	97052104	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	63	24	.	.	ENST00000524981.4:c.5440G>A	p.Glu1814Lys	p.E1814K	ENST00000524981		1814	Gag/Aag	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		87	1.78		HGNC	p.E1814K		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97052104,G,A&fts=all				E/K		A	low	5463/9766		getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1780&re=1979&var=E1814K	tolerated(0.63)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Glu1814Lys,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	5440/9291	E1814K				Transcript		benign(0.222)	.	ENSP00000431759					1	
RBM12B	0	LGGM	GRCh37	8	94747792	94747792	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	28	25	.	.	ENST00000399300.2:c.847G>T	p.Gly283Ter	p.G283*	ENST00000399300	NM_203390.2	283	Gga/Tga	0	1	1	UPI0000E9B14C	0	NA	ENST00000399300		ENSG00000183808	32310		53	0		HGNC	p.G283X		RBM12B		SNV							ENST00000399300	protein_coding	getma.org/?cm=var&var=hg19,8,94747792,C,A&fts=all		Gene3D:3.30.70.330,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF28,Superfamily_domains:SSF54928		G/*		A	NA	1061/7269		NA		E5RJW8_HUMAN,E5RJV8_HUMAN,E5RJ83_HUMAN,E5RHG1_HUMAN			YES	RBM12B,stop_gained,p.Gly283Ter,ENST00000399300,NM_203390.2;RBM12B,stop_gained,p.Gly283Ter,ENST00000517700,;FAM92A1,downstream_gene_variant,,ENST00000518322,NM_145269.3;RBM12B-AS1,upstream_gene_variant,,ENST00000391680,;RBM12B,downstream_gene_variant,,ENST00000519109,;RBM12B,downstream_gene_variant,,ENST00000520560,;RBM12B,downstream_gene_variant,,ENST00000518597,;RBM12B,downstream_gene_variant,,ENST00000521947,;RP11-10N23.4,downstream_gene_variant,,ENST00000517998,;RBM12B,intron_variant,,ENST00000520961,;							HIGH	847/3006	G283*	RB12B_HUMAN			Transcript			.	ENSP00000382239		CCDS43755.1			1	
PTK7	0	LGGM	GRCh37	6	43098054	43098054	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	37	25	.	.	ENST00000481273.1:c.581C>A	p.Thr194Lys	p.T194K	ENST00000481273	NM_001270398.1	194	aCg/aAg	0	1		UPI0000001BDB	0	getma.org/pdb.php?prot=PTK7_HUMAN&from=128&to=219&var=T186K	ENST00000230419		ENSG00000112655	9618		62	2.105		HGNC	p.T186K		PTK7		SNV							ENST00000471863	protein_coding	getma.org/?cm=var&var=hg19,6,43098054,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR26391,hmmpanther:PTHR26391:SF14,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/K		A	medium	778/4272		getma.org/?cm=msa&ty=f&p=PTK7_HUMAN&rb=128&re=219&var=T186K	tolerated(0.19)	F8WDG7_HUMAN				PTK7,missense_variant,p.Thr186Lys,ENST00000230419,NM_002821.4;PTK7,missense_variant,p.Thr186Lys,ENST00000345201,NM_152880.3;PTK7,missense_variant,p.Thr186Lys,ENST00000352931,NM_152882.3;PTK7,missense_variant,p.Thr186Lys,ENST00000349241,NM_152881.3;PTK7,missense_variant,p.Thr194Lys,ENST00000481273,NM_001270398.1;PTK7,missense_variant,p.Thr186Lys,ENST00000471863,;PTK7,upstream_gene_variant,,ENST00000489707,;PTK7,downstream_gene_variant,,ENST00000476760,;PTK7,upstream_gene_variant,,ENST00000481946,;PTK7,missense_variant,p.Thr186Lys,ENST00000230418,;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,;PTK7,intron_variant,,ENST00000470019,;PTK7,upstream_gene_variant,,ENST00000490710,;							MODERATE	557/3213	T186K	PTK7_HUMAN			Transcript		benign(0.136)	.	ENSP00000230419		CCDS4884.1			1	
CD1A	0	LGGM	GRCh37	1	158227281	158227281	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	84	25	.	.	ENST00000289429.5:c.954G>A	p.Ala318=	p.A318=	ENST00000289429	NM_001763.2	318	gcG/gcA	0	1	1	UPI0000161A54	0		ENST00000289429		ENSG00000158477	1634		109			HGNC	p.A318A	rs768867270,COSM290108	CD1A		SNV						0,1	ENST00000289429	protein_coding			hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A		A		1487/2096	1.50E-05						YES	CD1A,synonymous_variant,p.=,ENST00000289429,NM_001763.2;					0,1		LOW	954/984		CD1A_HUMAN			Transcript			.	ENSP00000289429	8.24E-06	CCDS1174.1			1	
PXDNL	0	LGGM	GRCh37	8	52359577	52359577	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	63	26	.	.	ENST00000356297.4:c.1512T>A	p.Thr504=	p.T504=	ENST00000356297	NM_144651.4	504	acT/acA	0	1	1	UPI0001AE6ED6	0		ENST00000356297		ENSG00000147485	26359		89			HGNC	p.T504T		PXDNL		SNV							ENST00000543296	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Pfam_domain:PF07679,SMART_domains:SM00409,Superfamily_domains:SSF48726		T		T		1613/4805							YES	PXDNL,synonymous_variant,p.=,ENST00000356297,NM_144651.4;PXDNL,synonymous_variant,p.=,ENST00000543296,;							LOW	1512/4392		PXDNL_HUMAN			Transcript			.	ENSP00000348645		CCDS47855.1			1	
ZNF669	0	LGGM	GRCh37	1	247264580	247264580	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	68	26	.	.	ENST00000343381.6:c.491G>T	p.Gly164Val	p.G164V	ENST00000343381	NM_024804.2	164	gGt/gTt	0	1	1	UPI000013E1E0	0	NA	ENST00000343381		ENSG00000188295	25736		94	0.345		HGNC	p.V58F		ZNF669		SNV							ENST00000366500	protein_coding	getma.org/?cm=var&var=hg19,1,247264580,C,A&fts=all		hmmpanther:PTHR24381:SF127,hmmpanther:PTHR24381,PROSITE_profiles:PS50805		G/V		A	neutral	664/1951		getma.org/?cm=msa&ty=f&p=ZN669_HUMAN&rb=90&re=176&var=G164V	deleterious(0.01)				YES	ZNF669,missense_variant,p.Gly164Val,ENST00000343381,NM_024804.2;ZNF669,missense_variant,p.Val144Phe,ENST00000358785,;ZNF669,missense_variant,p.Gly78Val,ENST00000448299,NM_001142572.1;ZNF669,missense_variant,p.Val58Phe,ENST00000366500,;ZNF669,3_prime_UTR_variant,,ENST00000366501,;ZNF669,downstream_gene_variant,,ENST00000476158,;							MODERATE	491/1395	G164V	ZN669_HUMAN			Transcript		benign(0.007)	.	ENSP00000342818		CCDS31088.1			1	
AC114546.1	0	LGGM	GRCh37	15	35271925	35271925	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	73	26	.	.	ENST00000391457.2:c.152T>A	p.Leu51Ter	p.L51*	ENST00000391457		51	tTa/tAa	0	1	1	UPI000006F036	0		ENST00000391457		ENSG00000212768			99			Clone_based_ensembl_gene	p.L51X		AC114546.1		SNV							ENST00000391457	protein_coding					L/*		A		1374/1717				Q9UHS9_HUMAN			YES	AC114546.1,stop_gained,p.Leu51Ter,ENST00000391457,;ZNF770,3_prime_UTR_variant,,ENST00000356321,NM_014106.3;ZNF770,downstream_gene_variant,,ENST00000559564,;							HIGH	152/204					Transcript			.	ENSP00000375288					1	
RHOBTB1	0	LGGM	GRCh37	10	62648354	62648354	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	56	27	.	.	ENST00000337910.5:c.1072G>T	p.Gly358Trp	p.G358W	ENST00000337910	NM_001242359.1	358	Ggg/Tgg	0	1	1	UPI000000D9B7	0	NA	ENST00000337910		ENSG00000072422	18738		83	1.15		HGNC	p.G358W		RHOBTB1		SNV							ENST00000337910	protein_coding	getma.org/?cm=var&var=hg19,10,62648354,C,A&fts=all		PROSITE_profiles:PS50097,SMART_domains:SM00225		G/W		A	low	1410/4473		getma.org/?cm=msa&ty=f&p=RHBT1_HUMAN&rb=266&re=427&var=G358W	deleterious(0.02)	Q567T3_HUMAN			YES	RHOBTB1,missense_variant,p.Gly358Trp,ENST00000337910,NM_001242359.1,NM_014836.4;RHOBTB1,missense_variant,p.Gly358Trp,ENST00000357917,;RHOBTB1,upstream_gene_variant,,ENST00000483488,;							MODERATE	1072/2091	G358W	RHBT1_HUMAN			Transcript		benign(0.371)	.	ENSP00000338671		CCDS7261.1			1	
ZFX	0	LGGM	GRCh37	X	24229410	24229410	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	45	28	.	.	ENST00000379177.1:c.2335G>T	p.Glu779Ter	p.E779*	ENST00000379177	NM_003410.3	779	Gag/Tag	0	1		UPI000013C504	0	NA	ENST00000304543		ENSG00000005889	12869		73	0		HGNC	p.E550X		ZFX		SNV							ENST00000539115	protein_coding	getma.org/?cm=var&var=hg19,X,24229410,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF00096,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF208,SMART_domains:SM00355,Superfamily_domains:SSF57667		E/*		T	NA	2589/2996		NA		Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN				ZFX,stop_gained,p.Glu779Ter,ENST00000379177,NM_003410.3,NM_001178085.1;ZFX,stop_gained,p.Glu779Ter,ENST00000379188,NM_001178084.1,NM_001178095.1;ZFX,stop_gained,p.Glu550Ter,ENST00000539115,NM_001178086.1;ZFX,stop_gained,p.Glu779Ter,ENST00000304543,;ZFX,stop_gained,p.Glu818Ter,ENST00000540034,;ZFX,stop_gained,p.Glu729Ter,ENST00000338565,;ZFX,downstream_gene_variant,,ENST00000459724,;							HIGH	2335/2418	E779*	ZFX_HUMAN			Transcript			.	ENSP00000304985		CCDS14211.1			1	
MFN1	0	LGGM	GRCh37	3	179104324	179104324	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	64	28	.	.	ENST00000471841.1:c.1919G>T	p.Arg640Leu	p.R640L	ENST00000471841	NM_033540.2	640	cGa/cTa	0	1	1	UPI000013D495	0	NA	ENST00000471841		ENSG00000171109	18262		92	2.76		HGNC	p.R640L		MFN1		SNV							ENST00000471841	protein_coding	getma.org/?cm=var&var=hg19,3,179104324,G,T&fts=all		Pfam_domain:PF04799,hmmpanther:PTHR10465,hmmpanther:PTHR10465:SF2		R/L		T	medium	2045/5224		getma.org/?cm=msa&ty=f&p=MFN1_HUMAN&rb=567&re=737&var=R640L	deleterious(0)	C9JXQ1_HUMAN,C9JQT7_HUMAN			YES	MFN1,missense_variant,p.Arg640Leu,ENST00000471841,NM_033540.2;MFN1,missense_variant,p.Arg529Leu,ENST00000280653,;MFN1,missense_variant,p.Arg640Leu,ENST00000263969,;MFN1,missense_variant,p.Arg392Leu,ENST00000474903,;MFN1,3_prime_UTR_variant,,ENST00000357390,;MFN1,downstream_gene_variant,,ENST00000480636,;							MODERATE	1919/2226	R640L	MFN1_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000420617		CCDS3228.1			1	
ZNF253	0	LGGM	GRCh37	19	19989362	19989362	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	226	29	.	.	ENST00000589717.1:c.76C>T	p.Arg26Trp	p.R26W	ENST00000589717	NM_021047.2	26	Cgg/Tgg	0	1	1	UPI0000070CE8	0	getma.org/pdb.php?prot=ZN253_HUMAN&from=4&to=44&var=R26W	ENST00000589717		ENSG00000256771	13497		255	2.875		HGNC	p.R26W	rs753613453	ZNF253		SNV				0.000103			ENST00000589717	protein_coding	getma.org/?cm=var&var=hg19,19,19989362,C,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF106,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		R/W		T	medium	168/3519	3.03E-05	getma.org/?cm=msa&ty=f&p=ZN253_HUMAN&rb=4&re=44&var=R26W	deleterious(0.03)	K7EP55_HUMAN			YES	ZNF253,missense_variant,p.Arg26Trp,ENST00000589717,NM_021047.2;ZNF253,intron_variant,,ENST00000355650,;ZNF253,intron_variant,,ENST00000592725,;ZNF253,non_coding_transcript_exon_variant,,ENST00000589668,;	0.000116						MODERATE	76/1500	R26W	ZN253_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000468720	3.29E-05	CCDS42532.1			1	
TRPM4	0	LGGM	GRCh37	19	49713476	49713476	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	30	30	.	.	ENST00000252826.5:c.3142G>T	p.Gly1048Cys	p.G1048C	ENST00000252826	NM_017636.3	1048	Ggc/Tgc	0	1	1	UPI0000070598	0	NA	ENST00000252826		ENSG00000130529	17993		60	2.05		HGNC	p.G903C		TRPM4		SNV			1				ENST00000427978	protein_coding	getma.org/?cm=var&var=hg19,19,49713476,G,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF6		G/C		T	medium	3268/4109		getma.org/?cm=msa&ty=f&p=TRPM4_HUMAN&rb=955&re=1154&var=G1048C	tolerated(0.08)				YES	TRPM4,missense_variant,p.Gly1048Cys,ENST00000252826,NM_017636.3;TRPM4,missense_variant,p.Gly903Cys,ENST00000427978,NM_001195227.1;TRPM4,missense_variant,p.Gly694Cys,ENST00000355712,;TRPM4,upstream_gene_variant,,ENST00000597316,;TRPM4,3_prime_UTR_variant,,ENST00000595519,;TRPM4,3_prime_UTR_variant,,ENST00000598502,;TRPM4,3_prime_UTR_variant,,ENST00000598697,;TRPM4,non_coding_transcript_exon_variant,,ENST00000596338,;TRPM4,non_coding_transcript_exon_variant,,ENST00000595071,;TRPM4,upstream_gene_variant,,ENST00000599459,;							MODERATE	3142/3645	G1048C	TRPM4_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000252826		CCDS33073.1			1	
FBXO2	0	LGGM	GRCh37	1	11710021	11710021	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	39	30	.	.	ENST00000354287.4:c.502T>C	p.Tyr168His	p.Y168H	ENST00000354287	NM_012168.5	168	Tac/Cac	0	1	1	UPI00000711D1	0	getma.org/pdb.php?prot=FBX2_HUMAN&from=110&to=296&var=Y168H	ENST00000354287		ENSG00000116661	13581		69	2.585		HGNC	p.Y168H		FBXO2		SNV							ENST00000354287	protein_coding	getma.org/?cm=var&var=hg19,1,11710021,A,G&fts=all		PROSITE_profiles:PS51114,hmmpanther:PTHR12125,hmmpanther:PTHR12125:SF8,Gene3D:2.60.120.260,Pfam_domain:PF04300,Superfamily_domains:SSF49785		Y/H		G	medium	844/1560		getma.org/?cm=msa&ty=f&p=FBX2_HUMAN&rb=110&re=296&var=Y168H	deleterious(0.04)				YES	FBXO2,missense_variant,p.Tyr168His,ENST00000354287,NM_012168.5;FBXO44,upstream_gene_variant,,ENST00000376770,NM_001014765.1;FBXO44,upstream_gene_variant,,ENST00000251547,NM_033182.5;FBXO44,upstream_gene_variant,,ENST00000251546,NM_183412.2;FBXO44,upstream_gene_variant,,ENST00000376762,;FBXO44,upstream_gene_variant,,ENST00000425796,;FBXO44,upstream_gene_variant,,ENST00000376768,;FBXO44,upstream_gene_variant,,ENST00000376760,;FBXO2,downstream_gene_variant,,ENST00000465901,;FBXO2,downstream_gene_variant,,ENST00000475961,;FBXO2,non_coding_transcript_exon_variant,,ENST00000466919,;FBXO2,non_coding_transcript_exon_variant,,ENST00000471501,;							MODERATE	502/891	Y168H	FBX2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000346240		CCDS130.1			1	
RAD54B	0	LGGM	GRCh37	8	95403899	95403899	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	73	31	.	.	ENST00000336148.5:c.1747A>T	p.Ile583Leu	p.I583L	ENST00000336148	NM_012415.3	583	Ata/Tta	0	1	1	UPI0000070088	0	getma.org/pdb.php?prot=RA54B_HUMAN&from=299&to=598&var=I583L	ENST00000336148		ENSG00000197275	17228		104	-0.55		HGNC	p.I583L		RAD54B		SNV							ENST00000336148	protein_coding	getma.org/?cm=var&var=hg19,8,95403899,T,A&fts=all		Superfamily_domains:SSF52540,Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF568		I/L		A	neutral	1872/3068		getma.org/?cm=msa&ty=f&p=RA54B_HUMAN&rb=299&re=598&var=I583L	tolerated(0.23)	E5RHN9_HUMAN			YES	RAD54B,missense_variant,p.Ile583Leu,ENST00000336148,NM_012415.3;FSBP,3_prime_UTR_variant,,ENST00000517506,;RAD54B,downstream_gene_variant,,ENST00000463267,;RAD54B,downstream_gene_variant,,ENST00000523192,;RAD54B,upstream_gene_variant,,ENST00000518358,;							MODERATE	1747/2733	I583L	RA54B_HUMAN			Transcript		benign(0.02)	.	ENSP00000336606		CCDS6262.1			1	
ZNF233	0	LGGM	GRCh37	19	44778366	44778366	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	61	31	.	.	ENST00000391958.2:c.1553G>T	p.Ser518Ile	p.S518I	ENST00000391958	NM_181756.2	518	aGt/aTt	0	1	1	UPI000049DEBE	0	getma.org/pdb.php?prot=ZN233_HUMAN&from=494&to=519&var=S518I	ENST00000391958		ENSG00000159915	30946		92	1.555		HGNC	p.S518I		ZNF233		SNV							ENST00000391958	protein_coding	getma.org/?cm=var&var=hg19,19,44778366,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF42,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/I		T	low	1680/2784		getma.org/?cm=msa&ty=f&p=ZN233_HUMAN&rb=474&re=539&var=S518I	deleterious(0.02)	K7EN46_HUMAN			YES	ZNF233,missense_variant,p.Ser518Ile,ENST00000391958,NM_181756.2;ZNF233,missense_variant,p.Ser500Ile,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,;							MODERATE	1553/2013	S518I	ZN233_HUMAN			Transcript		possibly_damaging(0.751)	.	ENSP00000375820		CCDS33047.1			1	
URB2	0	LGGM	GRCh37	1	229772621	229772621	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	63	32	.	.	ENST00000258243.2:c.2261T>C	p.Leu754Pro	p.L754P	ENST00000258243	NM_014777.2	754	cTg/cCg	0	1	1	UPI000013CFBD	0	NA	ENST00000258243		ENSG00000135763	28967		95	2.125		HGNC	p.L754P		URB2		SNV							ENST00000258243	protein_coding	getma.org/?cm=var&var=hg19,1,229772621,T,C&fts=all		hmmpanther:PTHR15682		L/P		C	medium	2397/5613		getma.org/?cm=msa&ty=f&p=URB2_HUMAN&rb=568&re=767&var=L754P	deleterious(0)	Q5VYD0_HUMAN			YES	URB2,missense_variant,p.Leu754Pro,ENST00000258243,NM_014777.2;							MODERATE	2261/4575	L754P	URB2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000258243		CCDS31052.1			1	
TECTA	0	LGGM	GRCh37	11	121037338	121037338	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	41	33	.	.	ENST00000392793.1:c.5435A>G	p.Glu1812Gly	p.E1812G	ENST00000392793		1812	gAa/gGa	0	1		UPI000045659D	0	NA	ENST00000264037		ENSG00000109927	11720		74	1.7		HGNC	p.E1812G		TECTA		SNV			1				ENST00000392793	protein_coding	getma.org/?cm=var&var=hg19,11,121037338,A,G&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR11339,Pfam_domain:PF00100,SMART_domains:SM00241		E/G		G	low	5435/6468		getma.org/?cm=msa&ty=f&p=TECTA_HUMAN&rb=1805&re=2059&var=E1812G	deleterious(0.04)					TECTA,missense_variant,p.Glu1812Gly,ENST00000392793,;TECTA,missense_variant,p.Glu1812Gly,ENST00000264037,NM_005422.2;							MODERATE	5435/6468	E1812G	TECTA_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000264037		CCDS8434.1			1	
WWC3	0	LGGM	GRCh37	X	10084497	10084497	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	65	35	.	.	ENST00000380861.4:c.1014G>A	p.Gln338=	p.Q338=	ENST00000380861	NM_015691.3	338	caG/caA	0	1	1	UPI0000225CDE	0		ENST00000380861		ENSG00000047644	29237		100			HGNC	p.Q338Q		WWC3		SNV							ENST00000380861	protein_coding			hmmpanther:PTHR14791,hmmpanther:PTHR14791:SF25		Q		A		1405/6647				T2C6S4_HUMAN			YES	WWC3,synonymous_variant,p.=,ENST00000380861,NM_015691.3;WWC3,synonymous_variant,p.=,ENST00000454666,;							LOW	1014/3279		WWC3_HUMAN			Transcript			.	ENSP00000370242		CCDS14136.1			1	
LILRB2	0	LGGM	GRCh37	19	54780134	54780134	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	35	36	.	.	ENST00000391749.4:c.1581C>T	p.Ala527=	p.A527=	ENST00000391749	NM_001278406.1	527	gcC/gcT	0	1	1	UPI00000707E4	0		ENST00000391749		ENSG00000131042	6606		71			HGNC	p.P502L		LILRB2		SNV							ENST00000391746	protein_coding			hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF92		A		A		1853/2286				C9JF29_HUMAN			YES	LILRB2,missense_variant,p.Pro502Leu,ENST00000391746,NM_001278405.1;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,downstream_gene_variant,,ENST00000471216,;LILRB2,synonymous_variant,p.=,ENST00000455108,;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,;							LOW	1581/1797		LIRB2_HUMAN			Transcript			.	ENSP00000375629		CCDS12886.1			1	
BEND7	0	LGGM	GRCh37	10	13494606	13494606	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	60	38	.	.	ENST00000341083.3:c.960A>G	p.Pro320=	p.P320=	ENST00000341083	NM_152751.2	320	ccA/ccG	0	1	1	UPI000013FFEA	0		ENST00000341083		ENSG00000165626	23514		98			HGNC	p.P372P		BEND7		SNV							ENST00000396900	protein_coding			PROSITE_profiles:PS51457,Pfam_domain:PF10523,SMART_domains:SM01025		P		C		1257/2239							YES	BEND7,synonymous_variant,p.=,ENST00000440282,;BEND7,synonymous_variant,p.=,ENST00000341083,NM_152751.2;BEND7,synonymous_variant,p.=,ENST00000396900,;BEND7,synonymous_variant,p.=,ENST00000396898,;BEND7,synonymous_variant,p.=,ENST00000378605,NM_001100912.1;BEND7,non_coding_transcript_exon_variant,,ENST00000486542,;BEND7,non_coding_transcript_exon_variant,,ENST00000480703,;BEND7,non_coding_transcript_exon_variant,,ENST00000469555,;BEND7,non_coding_transcript_exon_variant,,ENST00000463303,;							LOW	960/1407		BEND7_HUMAN			Transcript			.	ENSP00000345773		CCDS7099.1			1	
CLDN18	0	LGGM	GRCh37	3	137749810	137749810	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H111909	H111909N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	63	39	.	.	ENST00000183605.5:c.615-2A>T		p.X205_splice	ENST00000183605	NM_016369.3			0	1	1	UPI00000389FC	0		ENST00000183605		ENSG00000066405	2039		102			HGNC	-		CLDN18		SNV							ENST00000343735	protein_coding							T		-/3520							YES	CLDN18,splice_acceptor_variant,,ENST00000183605,NM_016369.3;CLDN18,splice_acceptor_variant,,ENST00000343735,NM_001002026.2;CLDN18,splice_acceptor_variant,,ENST00000479660,;							HIGH	615/786		CLD18_HUMAN			Transcript			.	ENSP00000183605		CCDS3095.1			1	
OR2L5	0	LGGM	GRCh37	1	248185832	248185832	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111909	H111909N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	79	40	.	.	ENST00000355281.1:c.583G>A	p.Glu195Lys	p.E195K	ENST00000355281	NM_001258284.1	195	Gag/Aag	0	1	1	UPI0000061EEE	0		ENST00000355281		ENSG00000197454	15011		119			HGNC	p.E195K		OR2L5		SNV							ENST00000355281	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF189,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		E/K		A		583/939			deleterious(0.01)				YES	OR2L5,missense_variant,p.Glu195Lys,ENST00000355281,NM_001258284.1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2;							MODERATE	583/939		OR2L5_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000347428		CCDS58068.1			1	
CORO2A	0	LGGM	GRCh37	9	100890519	100890519	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	62	44	.	.	ENST00000343933.5:c.1104A>G	p.Ile368Met	p.I368M	ENST00000343933	NM_003389.3	368	atA/atG	0	1	1	UPI0000127C45	0	getma.org/pdb.php?prot=COR2A_HUMAN&from=261&to=397&var=I368M	ENST00000343933		ENSG00000106789	2255		106	3.565		HGNC	p.I368M		CORO2A		SNV							ENST00000343933	protein_coding	getma.org/?cm=var&var=hg19,9,100890519,T,C&fts=all		Pfam_domain:PF08954,hmmpanther:PTHR10856,hmmpanther:PTHR10856:SF2		I/M		C	high	1362/5635		getma.org/?cm=msa&ty=f&p=COR2A_HUMAN&rb=261&re=397&var=I368M	deleterious(0.01)				YES	CORO2A,missense_variant,p.Ile368Met,ENST00000343933,NM_003389.3;CORO2A,missense_variant,p.Ile368Met,ENST00000375077,NM_052820.3;							MODERATE	1104/1578	I368M	COR2A_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000343746		CCDS6735.1			1	
SHANK2	0	LGGM	GRCh37	11	70742640	70742640	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H111909	H111909N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	63	54	.	.	ENST00000338508.4:c.1143A>C	p.Ala381=	p.A381=	ENST00000338508		381	gcA/gcC	0	1	1	UPI00020653A9	0		ENST00000338508		ENSG00000162105	14295		117			HGNC	p.A381A		SHANK2		SNV			1				ENST00000338508	protein_coding			PROSITE_profiles:PS50297,hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17,Gene3D:1.25.40.20,SMART_domains:SM00248,Superfamily_domains:SSF48403		A		G		1143/8987				C9JFP8_HUMAN,A6NHU9_HUMAN			YES	SHANK2,synonymous_variant,p.=,ENST00000338508,;SHANK2,synonymous_variant,p.=,ENST00000294018,;SHANK2,non_coding_transcript_exon_variant,,ENST00000460048,;							LOW	1143/5553					Transcript			.	ENSP00000345193					1	
GPRASP2	0	LGGM	GRCh37	X	101970450	101970450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	82	67	.	.	ENST00000543253.1:c.653C>A	p.Ala218Asp	p.A218D	ENST00000543253	NM_001184874.2	218	gCc/gAc	0	1		UPI000006F01A	0	NA	ENST00000332262		ENSG00000158301	25169		149	1.15		HGNC	p.A218D		GPRASP2		SNV							ENST00000543253	protein_coding	getma.org/?cm=var&var=hg19,X,101970450,C,A&fts=all		hmmpanther:PTHR15712,hmmpanther:PTHR15712:SF10		A/D		A	low	1509/3720		getma.org/?cm=msa&ty=f&p=GASP2_HUMAN&rb=160&re=359&var=A218D	deleterious(0.04)					GPRASP2,missense_variant,p.Ala218Asp,ENST00000543253,NM_001184874.2,NM_001184876.2,NM_001004051.3;GPRASP2,missense_variant,p.Ala218Asp,ENST00000535209,;GPRASP2,missense_variant,p.Ala218Asp,ENST00000332262,NM_138437.5,NM_001184875.2;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,;							MODERATE	653/2517	A218D	GASP2_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000339057		CCDS14501.1			1	
KRT77	0	LGGM	GRCh37	12	53091483	53091483	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111909	H111909N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111909N.bam, H111909T.bam	Illumina HiSeq	155	73	.	.	ENST00000341809.3:c.741G>T	p.Val247=	p.V247=	ENST00000341809	NM_175078.2	247	gtG/gtT	0	1	1	UPI00001D797A	0		ENST00000341809		ENSG00000189182	20411		228			HGNC	p.V247V		KRT77		SNV							ENST00000341809	protein_coding			Pfam_domain:PF00038,Prints_domain:PR01276,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF87		V		A		770/3305				F5GY66_HUMAN			YES	KRT77,synonymous_variant,p.=,ENST00000341809,NM_175078.2;KRT77,synonymous_variant,p.=,ENST00000537195,;RP11-641A6.3,downstream_gene_variant,,ENST00000547533,;KRT77,3_prime_UTR_variant,,ENST00000553168,;KRT77,upstream_gene_variant,,ENST00000550823,;							LOW	741/1737		K2C1B_HUMAN			Transcript			.	ENSP00000342710		CCDS8837.1			1	
C10orf85	0	LGGM	GRCh37	10	122357868	122357868	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	28	3	.	.	ENST00000369071.2:c.46C>A	p.Pro16Thr	p.P16T	ENST00000369071		16	Ccc/Acc	0	1	1	UPI000006E382	0		ENST00000369071		ENSG00000177234	31365		31			HGNC	p.P16T		C10orf85		SNV							ENST00000369071	protein_coding					P/T		A		148/1909			deleterious_low_confidence(0)				YES	C10orf85,missense_variant,p.Pro16Thr,ENST00000369071,;							MODERATE	46/387		CJ085_HUMAN			Transcript		possibly_damaging(0.81)	.	ENSP00000358067					1	
MRPL18	0	LGGM	GRCh37	6	160218323	160218323	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	35	3	.	.	ENST00000367034.4:c.244C>A	p.Arg82=	p.R82=	ENST00000367034	NM_014161.3	82	Cga/Aga	0	1	1	UPI0000037B54	0		ENST00000367034		ENSG00000112110	14477		38			HGNC	p.R82R	rs375117381	MRPL18		SNV	A:0						ENST00000367034	protein_coding			hmmpanther:PTHR12899:SF3,hmmpanther:PTHR12899,Pfam_domain:PF00861,Gene3D:3.30.420.100,Superfamily_domains:SSF53137		R	A:0.0001	A		366/978	4.51E-05						YES	MRPL18,synonymous_variant,p.=,ENST00000367034,NM_014161.3;PNLDC1,upstream_gene_variant,,ENST00000610273,NM_173516.2;PNLDC1,upstream_gene_variant,,ENST00000392167,NM_001271862.1;MRPL18,non_coding_transcript_exon_variant,,ENST00000480842,;MRPL18,non_coding_transcript_exon_variant,,ENST00000476826,;MRPL18,non_coding_transcript_exon_variant,,ENST00000479638,;PNLDC1,upstream_gene_variant,,ENST00000609334,;PNLDC1,upstream_gene_variant,,ENST00000275275,;PNLDC1,upstream_gene_variant,,ENST00000610041,;PNLDC1,upstream_gene_variant,,ENST00000610048,;							LOW	244/543		RM18_HUMAN			Transcript			.	ENSP00000356001	2.47E-05	CCDS5270.1			1	
DSCAM	0	LGGM	GRCh37	21	41559082	41559082	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	43	3	.	.	ENST00000400454.1:c.2755G>T	p.Asp919Tyr	p.D919Y	ENST00000400454	NM_001271534.1	919	Gat/Tat	0	1	1	UPI00000422DF	0	getma.org/pdb.php?prot=DSCAM_HUMAN&from=886&to=972&var=D919Y	ENST00000400454		ENSG00000171587	3039		46	0.86		HGNC	p.D671Y		DSCAM		SNV							ENST00000404019	protein_coding	getma.org/?cm=var&var=hg19,21,41559082,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF16,SMART_domains:SM00060,Superfamily_domains:SSF49265		D/Y		A	low	3233/8552		getma.org/?cm=msa&ty=f&p=DSCAM_HUMAN&rb=886&re=972&var=D919Y	deleterious(0.01)				YES	DSCAM,missense_variant,p.Asp919Tyr,ENST00000400454,NM_001271534.1,NM_001389.3;DSCAM,missense_variant,p.Asp671Tyr,ENST00000404019,;							MODERATE	2755/6039	D919Y	DSCAM_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000383303		CCDS42929.1			1	
PAK6	0	LGGM	GRCh37	15	40558674	40558674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	15	3	.	.	ENST00000560346.1:c.836C>A	p.Pro279Gln	p.P279Q	ENST00000560346		279	cCa/cAa	0	1		UPI0000001C3B	0	NA	ENST00000260404		ENSG00000137843	16061		18	0.695		HGNC	p.P279Q		PAK6		SNV							ENST00000441369	protein_coding	getma.org/?cm=var&var=hg19,15,40558674,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24361:SF182,hmmpanther:PTHR24361,Gene3D:3.30.200.20		P/Q		A	neutral	1262/3865		getma.org/?cm=msa&ty=f&p=PAK6_HUMAN&rb=124&re=352&var=P279Q	tolerated_low_confidence(0.06)	H0YMS4_HUMAN,H0YM99_HUMAN,H0YLZ9_HUMAN,H0YL16_HUMAN,H0YK91_HUMAN,H0YK74_HUMAN				PAK6,missense_variant,p.Pro279Gln,ENST00000455577,NM_001276718.1;PAK6,missense_variant,p.Pro279Gln,ENST00000560346,;PAK6,missense_variant,p.Pro279Gln,ENST00000441369,NM_001128628.2;PAK6,missense_variant,p.Pro279Gln,ENST00000260404,NM_020168.5;PAK6,missense_variant,p.Pro279Gln,ENST00000453867,NM_001128629.2;PAK6,missense_variant,p.Pro279Gln,ENST00000542403,NM_001276717.1;PAK6,missense_variant,p.Pro279Gln,ENST00000560669,;PAK6,downstream_gene_variant,,ENST00000561230,;PAK6,downstream_gene_variant,,ENST00000559617,;PAK6,downstream_gene_variant,,ENST00000559139,;PAK6,downstream_gene_variant,,ENST00000560684,;PAK6,downstream_gene_variant,,ENST00000558055,;PAK6,downstream_gene_variant,,ENST00000560806,;PAK6,downstream_gene_variant,,ENST00000558106,;PAK6,downstream_gene_variant,,ENST00000558878,;PAK6,downstream_gene_variant,,ENST00000558183,;PAK6,non_coding_transcript_exon_variant,,ENST00000559901,;PAK6,upstream_gene_variant,,ENST00000557926,;RP11-133K1.2,3_prime_UTR_variant,,ENST00000558658,;RP11-133K1.2,non_coding_transcript_exon_variant,,ENST00000559936,;RP11-133K1.2,non_coding_transcript_exon_variant,,ENST00000558965,;RP11-133K1.2,downstream_gene_variant,,ENST00000559435,;							MODERATE	836/2046	P279Q	PAK6_HUMAN			Transcript		benign(0.131)	.	ENSP00000260404		CCDS10054.1			1	
GNAT1	0	LGGM	GRCh37	3	50232001	50232001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	86	4	.	.	ENST00000232461.3:c.776C>A	p.Ser259Tyr	p.S259Y	ENST00000232461	NM_144499.2	259	tCc/tAc	0	1	1	UPI000000124C	0	getma.org/pdb.php?prot=GNAT1_HUMAN&from=3&to=350&var=S259Y	ENST00000232461		ENSG00000114349	4393		90	4.035		HGNC	p.S259Y		GNAT1		SNV			1				ENST00000232461	protein_coding	getma.org/?cm=var&var=hg19,3,50232001,C,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00503,hmmpanther:PTHR10218,hmmpanther:PTHR10218:SF67,SMART_domains:SM00275,Superfamily_domains:SSF52540		S/Y		A	high	890/2417		getma.org/?cm=msa&ty=f&p=GNAT1_HUMAN&rb=3&re=350&var=S259Y	deleterious(0)	C9JCV8_HUMAN			YES	GNAT1,missense_variant,p.Ser259Tyr,ENST00000232461,NM_144499.2;GNAT1,missense_variant,p.Ser259Tyr,ENST00000433068,NM_000172.3;GNAT1,downstream_gene_variant,,ENST00000440836,;GNAT1,downstream_gene_variant,,ENST00000481246,;GNAT1,downstream_gene_variant,,ENST00000467787,;							MODERATE	776/1053	S259Y	GNAT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000232461		CCDS2812.1			1	
TSPAN32	0	LGGM	GRCh37	11	2338696	2338696	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	29	6	.	.	ENST00000182290.4:c.842G>A	p.Trp281Ter	p.W281*	ENST00000182290	NM_139022.2	281	tGg/tAg	0	1	1	UPI000013198B	0	NA	ENST00000182290		ENSG00000064201	13410		35	0		HGNC	p.W281X		TSPAN32		SNV							ENST00000182290	protein_coding	getma.org/?cm=var&var=hg19,11,2338696,G,A&fts=all				W/*		A	NA	979/1318		NA					YES	TSPAN32,stop_gained,p.Trp281Ter,ENST00000182290,NM_139022.2;TSPAN32,stop_gained,p.Trp270Ter,ENST00000451520,;TSPAN32,stop_gained,p.Trp226Ter,ENST00000381117,;TSPAN32,intron_variant,,ENST00000381121,;RNU6-878P,upstream_gene_variant,,ENST00000384578,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000486011,;TSPAN32,downstream_gene_variant,,ENST00000483227,;TSPAN32,downstream_gene_variant,,ENST00000479508,;TSPAN32,downstream_gene_variant,,ENST00000484523,;TSPAN32,3_prime_UTR_variant,,ENST00000446063,;TSPAN32,3_prime_UTR_variant,,ENST00000339046,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000461200,;TSPAN32,non_coding_transcript_exon_variant,,ENST00000493924,;TSPAN32,downstream_gene_variant,,ENST00000498313,;TSPAN32,downstream_gene_variant,,ENST00000484104,;TSPAN32,downstream_gene_variant,,ENST00000493948,;							HIGH	842/963	W281*	TSN32_HUMAN			Transcript			.	ENSP00000182290		CCDS7733.1			1	
MAP3K10	0	LGGM	GRCh37	19	40710447	40710447	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	19	6	.	.	ENST00000253055.3:c.919G>A	p.Asp307Asn	p.D307N	ENST00000253055	NM_002446.3	307	Gac/Aac	0	1	1	UPI000013CDAC	0	getma.org/pdb.php?prot=M3K10_HUMAN&from=98&to=357&var=D307N	ENST00000253055		ENSG00000130758	6849		25	0.23		HGNC	p.D307N		MAP3K10		SNV							ENST00000253055	protein_coding	getma.org/?cm=var&var=hg19,19,40710447,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000556,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF370,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/N		A	neutral	1207/3436		getma.org/?cm=msa&ty=f&p=M3K10_HUMAN&rb=98&re=357&var=D307N	deleterious(0)				YES	MAP3K10,missense_variant,p.Asp307Asn,ENST00000253055,NM_002446.3;AC118344.1,downstream_gene_variant,,ENST00000408124,;MAP3K10,non_coding_transcript_exon_variant,,ENST00000593906,;MAP3K10,missense_variant,p.Asp57Asn,ENST00000597986,;MAP3K10,intron_variant,,ENST00000593502,;MAP3K10,intron_variant,,ENST00000594951,;MAP3K10,upstream_gene_variant,,ENST00000594791,;MAP3K10,upstream_gene_variant,,ENST00000601702,;MAP3K10,upstream_gene_variant,,ENST00000594569,;							MODERATE	919/2865	D307N	M3K10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000253055		CCDS12549.1			1	
OR2A7	0	LGGM	GRCh37	7	143956172	143956172	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	9	8	.	.	ENST00000493325.1:c.550C>G	p.Leu184Val	p.L184V	ENST00000493325	NM_001005328.1	184	Ctc/Gtc	0	1	1	UPI00000373F5	0	NA	ENST00000493325		ENSG00000243896	8234		17	2.075		HGNC	p.L184V		OR2A7		SNV							ENST00000493325	protein_coding	getma.org/?cm=var&var=hg19,7,143956172,G,C&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF135,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00245		L/V		C	medium	644/1116		getma.org/?cm=msa&ty=f&p=OR2A7_HUMAN&rb=138&re=282&var=L184V	deleterious(0.01)				YES	OR2A7,missense_variant,p.Leu184Val,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,;							MODERATE	550/933	L184V	OR2A7_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000420502		CCDS55177.1			1	
GZMM	0	LGGM	GRCh37	19	547428	547428	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	20	9	.	.	ENST00000264553.3:c.204G>A	p.Leu68=	p.L68=	ENST00000264553	NM_001258351.1	68	ctG/ctA	0	1	1	UPI000013D531	0		ENST00000264553		ENSG00000197540	4712		29			HGNC	p.L68L		GZMM		SNV							ENST00000264553	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24259,hmmpanther:PTHR24259:SF33,SMART_domains:SM00020,Superfamily_domains:SSF50494		L		A		242/940							YES	GZMM,synonymous_variant,p.=,ENST00000264553,NM_001258351.1,NM_005317.3;GZMM,synonymous_variant,p.=,ENST00000592501,;							LOW	204/774		GRAM_HUMAN			Transcript			.	ENSP00000264553		CCDS12031.1			1	
KRTAP5-10	0	LGGM	GRCh37	11	71276909	71276910	+	inframe_insertion	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	novel	by Submitter	H111988	H111988N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	13	9	.	.	ENST00000398531.1:c.305_306insAGGCTGTGGCTCCTGTGGGGGCTCCAAGGG	p.Gly129_Gly138dup	p.G129_G138dup	ENST00000398531	NM_001012710.1	92	-/GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA	0	1	1	UPI0000376062	0		ENST00000398531		ENSG00000204572	23605		22			HGNC	p.G92delinsGGCGSCGGSKG		KRTAP5-10		insertion							ENST00000398531	protein_coding			hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF47,Low_complexity_(Seg):seg		-/GCGSCGGSKG		GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA		301-302/1058							YES	KRTAP5-10,inframe_insertion,p.Gly129_Gly138dup,ENST00000398531,NM_001012710.1;KRTAP5-10,intron_variant,,ENST00000376536,;AP000867.14,upstream_gene_variant,,ENST00000511464,;							MODERATE	276-277/609		KR510_HUMAN			Transcript	29		.	ENSP00000381542		CCDS41684.1			1	
HECW2	0	LGGM	GRCh37	2	197183352	197183352	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	37	10	.	.	ENST00000260983.3:c.2262G>A	p.Pro754=	p.P754=	ENST00000260983	NM_020760.1	754	ccG/ccA	0	1	1	UPI00001A75E8	0		ENST00000260983		ENSG00000138411	29853		47			HGNC	p.P754P	rs765240680,COSM95941	HECW2		SNV						0,1	ENST00000260983	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11254:SF127,hmmpanther:PTHR11254		P		T		2445/11809	1.55E-05			C9JPI9_HUMAN,C9JHL2_HUMAN			YES	HECW2,synonymous_variant,p.=,ENST00000260983,NM_020760.1;HECW2,synonymous_variant,p.=,ENST00000409111,;					0,1		LOW	2262/4719		HECW2_HUMAN			Transcript			.	ENSP00000260983	8.24E-06	CCDS33354.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H111988	H111988N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	54	26	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		80			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
CA8	0	LGGM	GRCh37	8	61192327	61192327	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	104	15	.	.	ENST00000317995.4:c.213C>T	p.Ser71=	p.S71=	ENST00000317995	NM_004056.4	71	tcC/tcT	0	1	1	UPI000000D816	0		ENST00000317995		ENSG00000178538	1382		119			HGNC	p.S71S		CA8		SNV			1				ENST00000317995	protein_coding			PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF99,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069		S		A		478/3812				B4DFA0_HUMAN			YES	CA8,synonymous_variant,p.=,ENST00000317995,NM_004056.4;CA8,non_coding_transcript_exon_variant,,ENST00000524872,;CA8,non_coding_transcript_exon_variant,,ENST00000529918,;							LOW	213/873		CAH8_HUMAN			Transcript			.	ENSP00000314407		CCDS6174.1			1	
DNAH1	0	LGGM	GRCh37	3	52387259	52387259	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	60	16	.	.	ENST00000420323.2:c.3168C>T	p.Asn1056=	p.N1056=	ENST00000420323	NM_015512.4	1056	aaC/aaT	0	1	1	UPI0001AE79D6	0		ENST00000420323		ENSG00000114841	2940		76			HGNC	p.N1056N		DNAH1		SNV			1				ENST00000420323	protein_coding			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF137		N		T		3429/13104							YES	DNAH1,synonymous_variant,p.=,ENST00000420323,NM_015512.4;DNAH1,non_coding_transcript_exon_variant,,ENST00000486752,;DNAH1,non_coding_transcript_exon_variant,,ENST00000497875,;							LOW	3168/12798		DYH1_HUMAN			Transcript			.	ENSP00000401514		CCDS46842.1			1	
CDH9	0	LGGM	GRCh37	5	26906887	26906887	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	42	17	.	.	ENST00000231021.4:c.584C>T	p.Ala195Val	p.A195V	ENST00000231021	NM_016279.3	195	gCc/gTc	0	1	1	UPI000013C945	0	getma.org/pdb.php?prot=CADH9_HUMAN&from=164&to=259&var=A195V	ENST00000231021		ENSG00000113100	1768		59	3.465		HGNC	p.A195V		CDH9		SNV							ENST00000231021	protein_coding	getma.org/?cm=var&var=hg19,5,26906887,G,A&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF99,PROSITE_profiles:PS50268		A/V		A	medium	757/3079		getma.org/?cm=msa&ty=f&p=CADH9_HUMAN&rb=164&re=259&var=A195V	deleterious(0.01)	E7EPN0_HUMAN,D6RBT9_HUMAN			YES	CDH9,missense_variant,p.Ala195Val,ENST00000231021,NM_016279.3;CDH9,non_coding_transcript_exon_variant,,ENST00000505045,;							MODERATE	584/2370	A195V	CADH9_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000231021		CCDS3893.1			1	
TENM2	0	LGGM	GRCh37	5	166802318	166802318	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	56	18	.	.	ENST00000518659.1:c.342C>T	p.Asp114=	p.D114=	ENST00000518659	NM_001122679.1	114	gaC/gaT	0	1	1	UPI0001C48FC2	0		ENST00000518659		ENSG00000145934	29943		74			HGNC	p.D114D		TENM2		SNV							ENST00000545108	protein_coding			Pfam_domain:PF06484,PROSITE_profiles:PS51361,hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8		D		T		381/8550				G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,synonymous_variant,p.=,ENST00000518659,NM_001122679.1;TENM2,synonymous_variant,p.=,ENST00000545108,;							LOW	342/8325		TEN2_HUMAN			Transcript			.	ENSP00000429430					1	
KRT4	0	LGGM	GRCh37	12	53207583	53207584	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	CACCAAAGCCACCAGTGCCGAAACC	novel	by Submitter	H111988	H111988N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	24	27	.	.	ENST00000551956.1:c.260_261insGTTTCGGCACTGGTGGCTTTGGTGG	p.Gly88PhefsTer17	p.G88Ffs*17	ENST00000551956		87	ggt/gGGTTTCGGCACTGGTGGCTTTGGTGgt	0	1		UPI0000D9FD95	0		ENST00000293774		ENSG00000170477	6441		51			HGNC	p.G67fs		KRT4		insertion			1				ENST00000458244	protein_coding			hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF85,Low_complexity_(Seg):seg		G/GFRHWWLWWX		CACCAAAGCCACCAGTGCCGAAACC		752-753/2576				Q9UEK9_HUMAN				KRT4,frameshift_variant,p.Gly88PhefsTer17,ENST00000551956,;KRT4,frameshift_variant,p.Gly162PhefsTer17,ENST00000293774,;KRT4,frameshift_variant,p.Gly68PhefsTer17,ENST00000458244,NM_002272.3;KRT4,intron_variant,,ENST00000548097,;KRT4,intron_variant,,ENST00000552668,;KRT4,upstream_gene_variant,,ENST00000549295,;KRT4,upstream_gene_variant,,ENST00000551436,;							HIGH	481-482/1785		K2C4_HUMAN			Transcript	-1		.	ENSP00000293774					1	
TLN1	0	LGGM	GRCh37	9	35714832	35714832	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	50	19	.	.	ENST00000314888.9:c.2796C>T	p.Ile932=	p.I932=	ENST00000314888	NM_006289.3	932	atC/atT	0	1	1	UPI0000211375	0		ENST00000314888		ENSG00000137076	11845		69			HGNC	p.I932I	rs751064011	TLN1		SNV							ENST00000540444	protein_coding			Low_complexity_(Seg):seg,Gene3D:1r0dB00,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981		I		A		3150/8823	1.60E-05						YES	TLN1,synonymous_variant,p.=,ENST00000314888,NM_006289.3;TLN1,synonymous_variant,p.=,ENST00000540444,;	0.000118						LOW	2796/7626		TLN1_HUMAN			Transcript			.	ENSP00000316029	1.65E-05	CCDS35009.1			1	
MUC16	0	LGGM	GRCh37	19	9000197	9000197	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	86	20	.	.	ENST00000397910.4:c.40560G>T	p.Lys13520Asn	p.K13520N	ENST00000397910	NM_024690.2	13520	aaG/aaT	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13480&to=13588&var=K13522N	ENST00000397910		ENSG00000181143	15582		106	2.685		HGNC	p.K13520N		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9000197,C,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0,SMART_domains:SM00200		K/N		A	medium	40764/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13480&re=13588&var=K13522N		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Lys13520Asn,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Lys360Asn,ENST00000599436,;MUC16,missense_variant,p.Lys161Asn,ENST00000380951,;MUC16,missense_variant,p.Lys360Asn,ENST00000601404,;MUC16,missense_variant,p.Lys140Asn,ENST00000596768,;							MODERATE	40560/43524	K13522N				Transcript		probably_damaging(0.946)	.	ENSP00000381008		CCDS54212.1			1	
ZBTB1	0	LGGM	GRCh37	14	64988506	64988506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H111988	H111988N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	120	20	.	.	ENST00000394712.2:c.284A>T	p.Glu95Val	p.E95V	ENST00000394712	NM_001123329.1	95	gAg/gTg	0	1		UPI00001FD6B2	0	getma.org/pdb.php?prot=ZBTB1_HUMAN&from=14&to=120&var=E95V	ENST00000554015		ENSG00000126804	20259		140	1.075		HGNC	p.E95V		ZBTB1		SNV							ENST00000394712	protein_coding	getma.org/?cm=var&var=hg19,14,64988506,A,T&fts=all		Superfamily_domains:SSF54695,SMART_domains:SM00225,Gene3D:3.30.710.10,Pfam_domain:PF00651,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF326		E/V		T	low	715/2825		getma.org/?cm=msa&ty=f&p=ZBTB1_HUMAN&rb=14&re=120&var=E95V	deleterious(0)	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN				ZBTB1,missense_variant,p.Glu95Val,ENST00000358738,NM_014950.2;ZBTB1,missense_variant,p.Glu95Val,ENST00000394712,NM_001123329.1;ZBTB1,missense_variant,p.Glu95Val,ENST00000554015,;ZBTB1,missense_variant,p.Glu95Val,ENST00000553583,;ZBTB1,missense_variant,p.Glu95Val,ENST00000556965,;ZBTB1,downstream_gene_variant,,ENST00000555321,;RP11-973N13.4,intron_variant,,ENST00000554918,;							MODERATE	284/2142	E95V	ZBTB1_HUMAN			Transcript		possibly_damaging(0.898)	.	ENSP00000451000		CCDS45126.1			1	
SLC16A14	0	LGGM	GRCh37	2	230910394	230910394	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	48	20	.	.	ENST00000295190.4:c.1381+67C>G		*461*	ENST00000295190	NM_152527.4			0	1	1	UPI000004EE99	0		ENST00000295190		ENSG00000163053	26417		68			HGNC	p.P483R		SLC16A14		SNV							ENST00000412034	protein_coding							C		-/4390				C9JME4_HUMAN,C9JIV1_HUMAN,B3KNY7_HUMAN			YES	SLC16A14,missense_variant,p.Pro483Arg,ENST00000457406,;SLC16A14,missense_variant,p.Pro483Arg,ENST00000412034,;SLC16A14,intron_variant,,ENST00000295190,NM_152527.4;							MODIFIER	-/1533		MOT14_HUMAN			Transcript			.	ENSP00000295190		CCDS2473.1			1	
FBXO8	0	LGGM	GRCh37	4	175183952	175183952	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111988	H111988N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	35	21	.	.	ENST00000393674.2:c.292T>C	p.Trp98Arg	p.W98R	ENST00000393674	NM_012180.2	98	Tgg/Cgg	0	1	1	UPI000012A588	0	NA	ENST00000393674		ENSG00000164117	13587		56	3.665		HGNC	p.W98R		FBXO8		SNV							ENST00000393674	protein_coding	getma.org/?cm=var&var=hg19,4,175183952,A,G&fts=all		PROSITE_profiles:PS50181,hmmpanther:PTHR10663,Gene3D:1.20.1280.50,Pfam_domain:PF12937,Superfamily_domains:SSF81383		W/R		G	high	1155/2577		getma.org/?cm=msa&ty=f&p=FBX8_HUMAN&rb=68&re=111&var=W98R	deleterious(0)	D6RIC0_HUMAN			YES	FBXO8,missense_variant,p.Trp98Arg,ENST00000393674,NM_012180.2;FBXO8,missense_variant,p.Trp98Arg,ENST00000513696,;FBXO8,splice_region_variant,,ENST00000503293,;FBXO8,missense_variant,p.Trp98Arg,ENST00000515664,;							MODERATE	292/960	W98R	FBX8_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000377280		CCDS3820.1			1	
ATG12	0	LGGM	GRCh37	5	115177212	115177212	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	84	21	.	.	ENST00000509910.1:c.38C>T	p.Thr13Ile	p.T13I	ENST00000509910		13	aCt/aTt	0	1	1	UPI0000125C66	0	NA	ENST00000509910		ENSG00000145782	588		105	0.55		HGNC	p.T13I		ATG12		SNV							ENST00000379594	protein_coding	getma.org/?cm=var&var=hg19,5,115177212,G,A&fts=all		hmmpanther:PTHR13385		T/I		A	neutral	344/4333		getma.org/?cm=msa&ty=f&p=ATG12_HUMAN&rb=1&re=53&var=T13I	tolerated(0.09)				YES	ATG12,missense_variant,p.Thr13Ile,ENST00000509910,;ATG12,missense_variant,p.Thr60Ile,ENST00000274459,NM_004707.3;ATG12,missense_variant,p.Thr13Ile,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,missense_variant,p.Thr13Ile,ENST00000513322,;ATG12,missense_variant,p.Thr13Ile,ENST00000379594,;ATG12,missense_variant,p.Thr18Ile,ENST00000505993,;ATG12,missense_variant,p.Thr11Ile,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,;							MODERATE	38/423	T13I	ATG12_HUMAN			Transcript		benign(0)	.	ENSP00000425107		CCDS4122.2			1	
LSR	0	LGGM	GRCh37	19	35757285	35757285	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H111988	H111988N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	72	22	.	.	ENST00000361790.3:c.946A>G	p.Thr316Ala	p.T316A	ENST00000361790	NM_205834.3	316	Acc/Gcc	0	1	1	UPI000003117A	0	NA	ENST00000361790		ENSG00000105699	29572		94	1.5		HGNC	p.T160A		LSR		SNV							ENST00000427250	protein_coding	getma.org/?cm=var&var=hg19,19,35757285,A,G&fts=all		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF1		T/A		G	low	1105/2210		getma.org/?cm=msa&ty=f&p=LSR_HUMAN&rb=308&re=507&var=T316A	deleterious(0.05)				YES	LSR,missense_variant,p.Thr297Ala,ENST00000602122,;LSR,missense_variant,p.Thr316Ala,ENST00000361790,NM_205834.3;LSR,missense_variant,p.Thr297Ala,ENST00000354900,NM_015925.6,NM_001260489.1;LSR,missense_variant,p.Thr248Ala,ENST00000360798,NM_205835.3;LSR,missense_variant,p.Thr279Ala,ENST00000347609,;LSR,missense_variant,p.Thr160Ala,ENST00000427250,;LSR,missense_variant,p.Thr167Ala,ENST00000605618,NM_001260490.1;LSR,missense_variant,p.Thr100Ala,ENST00000599658,;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,;AD000684.2,downstream_gene_variant,,ENST00000602262,;USF2,upstream_gene_variant,,ENST00000600341,;LSR,downstream_gene_variant,,ENST00000597933,;LSR,downstream_gene_variant,,ENST00000602044,;USF2,upstream_gene_variant,,ENST00000607959,;USF2,upstream_gene_variant,,ENST00000602164,;LSR,upstream_gene_variant,,ENST00000597446,;USF2,upstream_gene_variant,,ENST00000593708,;USF2,upstream_gene_variant,,ENST00000597671,;							MODERATE	946/1950	T316A	LSR_HUMAN			Transcript		benign(0.338)	.	ENSP00000354575		CCDS12450.1			1	
FZD3	0	LGGM	GRCh37	8	28378351	28378351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	44	27	.	.	ENST00000240093.3:c.386G>A	p.Arg129Lys	p.R129K	ENST00000240093	NM_017412.3	129	aGg/aAg	0	1	1	UPI000003156A	0	getma.org/pdb.php?prot=FZD3_HUMAN&from=28&to=138&var=R129K	ENST00000240093		ENSG00000104290	4041		71	0.94		HGNC	p.R129K		FZD3		SNV							ENST00000537916	protein_coding	getma.org/?cm=var&var=hg19,8,28378351,G,A&fts=all		Gene3D:1ijyA00,Pfam_domain:PF01392,PROSITE_profiles:PS50038,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF22,SMART_domains:SM00063,Superfamily_domains:SSF63501		R/K		A	low	864/13726		getma.org/?cm=msa&ty=f&p=FZD3_HUMAN&rb=28&re=138&var=R129K	tolerated(0.32)	E5RGI9_HUMAN			YES	FZD3,missense_variant,p.Arg129Lys,ENST00000240093,NM_017412.3;FZD3,missense_variant,p.Arg129Lys,ENST00000537916,NM_145866.1;							MODERATE	386/2001	R129K	FZD3_HUMAN			Transcript		benign(0.004)	.	ENSP00000240093		CCDS6069.1			1	
TIPRL	0	LGGM	GRCh37	1	168165819	168165819	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	86	31	.	.	ENST00000367833.2:c.551G>A	p.Arg184Gln	p.R184Q	ENST00000367833	NM_152902.3	184	cGg/cAg	0	1	1	UPI0000071605	0	NA	ENST00000367833		ENSG00000143155	30231	8.64E-05	117	3.4		HGNC	p.R184Q	rs762161696	TIPRL		SNV							ENST00000367833	protein_coding	getma.org/?cm=var&var=hg19,1,168165819,G,A&fts=all		Pfam_domain:PF04176,hmmpanther:PTHR21021,Low_complexity_(Seg):seg		R/Q		A	medium	696/1630		getma.org/?cm=msa&ty=f&p=TIPRL_HUMAN&rb=48&re=226&var=R184Q	deleterious(0)				YES	TIPRL,missense_variant,p.Arg184Gln,ENST00000367833,NM_152902.3;TIPRL,downstream_gene_variant,,ENST00000367830,NM_001031800.1;							MODERATE	551/819	R184Q	TIPRL_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000356807	8.24E-06	CCDS1270.1			1	
ARHGAP21	0	LGGM	GRCh37	10	24890972	24890972	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	69	31	.	.	ENST00000396432.2:c.2782G>A	p.Val928Ile	p.V928I	ENST00000396432	NM_020824.3	928	Gtc/Atc	0	1	1	UPI0001639C78	0	NA	ENST00000396432		ENSG00000107863	23725		100	0.9		HGNC	p.V918I		ARHGAP21		SNV							ENST00000376410	protein_coding	getma.org/?cm=var&var=hg19,10,24890972,C,T&fts=all		hmmpanther:PTHR23175:SF16,hmmpanther:PTHR23175		V/I		T	low	3269/7167		getma.org/?cm=msa&ty=f&p=RHG21_HUMAN&rb=756&re=930&var=V927I	tolerated(0.33)	E7ESW5_HUMAN			YES	ARHGAP21,missense_variant,p.Val928Ile,ENST00000396432,NM_020824.3;ARHGAP21,missense_variant,p.Val715Ile,ENST00000320481,;ARHGAP21,missense_variant,p.Val928Ile,ENST00000446003,;ARHGAP21,missense_variant,p.Val918Ile,ENST00000376410,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000493154,;ARHGAP21,non_coding_transcript_exon_variant,,ENST00000486374,;							MODERATE	2782/5877	V927I	RHG21_HUMAN			Transcript		benign(0.096)	.	ENSP00000379709		CCDS7144.2			1	
USP42	0	LGGM	GRCh37	7	6187477	6187477	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	117	31	.	.	ENST00000306177.5:c.1340C>T	p.Ala447Val	p.A447V	ENST00000306177	NM_032172.2	447	gCt/gTt	0	1	1	UPI0000416754	0	NA	ENST00000306177		ENSG00000106346	20068		148	1.01		HGNC	p.A293V		USP42		SNV							ENST00000426246	protein_coding	getma.org/?cm=var&var=hg19,7,6187477,C,T&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF405		A/V		T	low	1498/5155		getma.org/?cm=msa&ty=f&p=UBP42_HUMAN&rb=410&re=609&var=A447V	deleterious(0.02)	E5RJP3_HUMAN,C9JPC9_HUMAN			YES	USP42,missense_variant,p.Ala447Val,ENST00000306177,NM_032172.2;USP42,missense_variant,p.Ala293Val,ENST00000426246,;USP42,missense_variant,p.Ala380Val,ENST00000465073,;USP42,3_prime_UTR_variant,,ENST00000521713,;USP42,non_coding_transcript_exon_variant,,ENST00000479544,;USP42,downstream_gene_variant,,ENST00000404008,;							MODERATE	1340/3951	A447V	UBP42_HUMAN			Transcript		benign(0.093)	.	ENSP00000301962		CCDS47535.1			1	
ZFR	0	LGGM	GRCh37	5	32397444	32397444	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	75	32	.	.	ENST00000265069.8:c.1714G>A	p.Val572Ile	p.V572I	ENST00000265069	NM_016107.3	572	Gta/Ata	0	1	1	UPI00001BBB38	0	NA	ENST00000265069		ENSG00000056097	17277		107	1.905		HGNC	p.V572I		ZFR		SNV			1				ENST00000265069	protein_coding	getma.org/?cm=var&var=hg19,5,32397444,C,T&fts=all		Superfamily_domains:SSF57667,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF87		V/I		T	medium	1817/4738		getma.org/?cm=msa&ty=f&p=ZFR_HUMAN&rb=407&re=581&var=V572I	tolerated(0.06)	B3KP82_HUMAN			YES	ZFR,missense_variant,p.Val572Ile,ENST00000265069,NM_016107.3;MIR579,upstream_gene_variant,,ENST00000385221,;							MODERATE	1714/3225	V572I	ZFR_HUMAN			Transcript		unknown(0)	.	ENSP00000265069		CCDS34139.1			1	
CCDC88A	0	LGGM	GRCh37	2	55522886	55522886	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	77	32	.	.	ENST00000336838.6:c.5395G>A	p.Ala1799Thr	p.A1799T	ENST00000336838		1799	Gca/Aca	0	1		UPI000150AEEC	0	NA	ENST00000436346		ENSG00000115355	25523		109	0		HGNC	p.A1772T	rs775144967	CCDC88A		SNV							ENST00000263630	protein_coding	getma.org/?cm=var&var=hg19,2,55522886,C,T&fts=all		hmmpanther:PTHR18947,hmmpanther:PTHR18947:SF30		A/T		T	neutral	6240/9811	1.50E-05	getma.org/?cm=msa&ty=f&p=GRDN_HUMAN&rb=1331&re=1869&var=A1800T	deleterious(0.05)	C9J225_HUMAN,B4DSN0_HUMAN				CCDC88A,missense_variant,p.Ala1800Thr,ENST00000436346,NM_001135597.1,NM_001254943.1;CCDC88A,missense_variant,p.Ala1772Thr,ENST00000263630,NM_018084.4;CCDC88A,missense_variant,p.Ala1799Thr,ENST00000336838,;CCDC88A,missense_variant,p.Ala975Thr,ENST00000426576,;CCDC88A,missense_variant,p.Ala301Thr,ENST00000422883,;CCDC88A,missense_variant,p.Ala303Thr,ENST00000444458,;CCDC88A,missense_variant,p.Ala817Thr,ENST00000412148,;CCDC88A,intron_variant,,ENST00000413716,;CCDC88A,downstream_gene_variant,,ENST00000456975,;							MODERATE	5398/5616	A1800T	GRDN_HUMAN			Transcript		possibly_damaging(0.624)	.	ENSP00000410608	8.24E-06				1	
AVL9	0	LGGM	GRCh37	7	32615646	32615646	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	104	36	.	.	ENST00000318709.4:c.1650C>G	p.Asn550Lys	p.N550K	ENST00000318709	NM_015060.1	550	aaC/aaG	0	1	1	UPI0000049D97	0	NA	ENST00000318709		ENSG00000105778	28994		140	1.04		HGNC	p.N550K		AVL9		SNV							ENST00000318709	protein_coding	getma.org/?cm=var&var=hg19,7,32615646,C,G&fts=all		hmmpanther:PTHR31017,hmmpanther:PTHR31017:SF1		N/K		G	low	1871/6982		getma.org/?cm=msa&ty=f&p=AVL9_HUMAN&rb=521&re=648&var=N550K	tolerated(0.38)				YES	AVL9,missense_variant,p.Asn550Lys,ENST00000318709,NM_015060.1;AVL9,missense_variant,p.Asn550Lys,ENST00000409301,;AVL9,intron_variant,,ENST00000446718,;AVL9,intron_variant,,ENST00000404479,;AVL9,upstream_gene_variant,,ENST00000497020,;AVL9,upstream_gene_variant,,ENST00000467779,;AVL9,upstream_gene_variant,,ENST00000470500,;DPY19L1P1,downstream_gene_variant,,ENST00000417811,;							MODERATE	1650/1947	N550K	AVL9_HUMAN			Transcript		benign(0.01)	.	ENSP00000315568		CCDS34613.1			1	
CPS1	0	LGGM	GRCh37	2	211473118	211473118	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	111	36	.	.	ENST00000430249.2:c.2244C>A	p.Ala748=	p.A748=	ENST00000430249	NM_001122633.2	748	gcC/gcA	0	1		UPI000000D7EC	0		ENST00000233072		ENSG00000021826	2323		147			HGNC	p.A748A		CPS1		SNV			1				ENST00000430249	protein_coding			Gene3D:3.30.470.20,Pfam_domain:PF02786,PROSITE_profiles:PS50975,hmmpanther:PTHR11405,hmmpanther:PTHR11405:SF32,Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR01369		A		A		2422/5821				Q5R207_HUMAN,C9JTA4_HUMAN,B7ZAW0_HUMAN				CPS1,synonymous_variant,p.=,ENST00000233072,NM_001875.4;CPS1,synonymous_variant,p.=,ENST00000430249,NM_001122633.2;CPS1,synonymous_variant,p.=,ENST00000451903,NM_001122634.2;CPS1,downstream_gene_variant,,ENST00000467353,;							LOW	2226/4503		CPSM_HUMAN			Transcript			.	ENSP00000233072		CCDS2393.1			1	
BAI3	0	LGGM	GRCh37	6	69949024	69949024	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H111988	H111988N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	174	38	.	.	ENST00000370598.1:c.2720G>T	p.Arg907Leu	p.R907L	ENST00000370598	NM_001704.2	907	cGc/cTc	0	1	1	UPI00001AE6A9	0	NA	ENST00000370598		ENSG00000135298	945		212	3.025		HGNC	p.R907L		BAI3		SNV							ENST00000370598	protein_coding	getma.org/?cm=var&var=hg19,6,69949024,G,T&fts=all		Pfam_domain:PF00002,Prints_domain:PR01694,PROSITE_profiles:PS50261,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF40		R/L		T	medium	3541/6010		getma.org/?cm=msa&ty=f&p=BAI3_HUMAN&rb=874&re=1143&var=R907L	deleterious(0.01)	S4R3D0_HUMAN,B7Z1K0_HUMAN			YES	BAI3,missense_variant,p.Arg907Leu,ENST00000370598,NM_001704.2;BAI3,missense_variant,p.Arg113Leu,ENST00000238918,;BAI3,missense_variant,p.Arg37Leu,ENST00000604969,;BAI3,missense_variant,p.Arg91Leu,ENST00000603207,;							MODERATE	2720/4569	R907L	BAI3_HUMAN			Transcript		possibly_damaging(0.453)	.	ENSP00000359630		CCDS4968.1			1	
SOHLH2	0	LGGM	GRCh37	13	36776087	36776087	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H111988	H111988N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	87	39	.	.	ENST00000511166.1:c.423A>T	p.Ile141=	p.I141=	ENST00000511166	NM_001198910.1	141	atA/atT	0	1		UPI000006D052	0		ENST00000379881		ENSG00000120669	26026		126			HGNC	p.I141I		SOHLH2		SNV							ENST00000511166	protein_coding			hmmpanther:PTHR16223,hmmpanther:PTHR16223:SF16		I		A		281/2193								SOHLH2,synonymous_variant,p.=,ENST00000379881,NM_017826.2;CCDC169-SOHLH2,synonymous_variant,p.=,ENST00000511166,NM_001198910.1;SOHLH2,synonymous_variant,p.=,ENST00000554962,;SOHLH2,synonymous_variant,p.=,ENST00000317764,NM_001282147.1;							LOW	192/1278		SOLH2_HUMAN			Transcript			.	ENSP00000369210		CCDS9355.1			1	
OR10A2	0	LGGM	GRCh37	11	6891772	6891772	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H111988	H111988N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	130	39	.	.	ENST00000307322.4:c.787T>C	p.Leu263=	p.L263=	ENST00000307322	NM_001004460.1	263	Ttg/Ctg	0	1	1	UPI000015F21C	0		ENST00000307322		ENSG00000170790	8161		169			HGNC	p.L263L		OR10A2		SNV							ENST00000307322	protein_coding			Transmembrane_helices:TMhelix,Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF13853,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF90,PROSITE_profiles:PS50262		L		C		849/1053							YES	OR10A2,synonymous_variant,p.=,ENST00000307322,NM_001004460.1;							LOW	787/912		O10A2_HUMAN			Transcript			.	ENSP00000303862		CCDS31415.1			1	
MC3R	0	LGGM	GRCh37	20	54824803	54824803	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H111988	H111988N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	127	41	.	.	ENST00000243911.2:c.904C>T	p.Arg302Trp	p.R302W	ENST00000243911	NM_019888.3	302	Cgg/Tgg	0	1	1	UPI0000E5A34B	0	NA	ENST00000243911		ENSG00000124089	6931		168	2.905		HGNC	p.R302W	rs746690857	MC3R		SNV			1				ENST00000243911	protein_coding	getma.org/?cm=var&var=hg19,20,54824803,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR22750,hmmpanther:PTHR22750:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		R/W		T	medium	1016/1084	1.50E-05	getma.org/?cm=msa&ty=f&p=MC3R_HUMAN&rb=307&re=360&var=R339W	deleterious(0)				YES	MC3R,missense_variant,p.Arg302Trp,ENST00000243911,NM_019888.3;							MODERATE	904/972	R339W	MC3R_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000243911	8.24E-06	CCDS13449.2			1	
NALCN	0	LGGM	GRCh37	13	101890204	101890204	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H111988	H111988N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H111988N.bam, H111988T.bam	Illumina HiSeq	129	52	.	.	ENST00000251127.6:c.1336A>G	p.Ile446Val	p.I446V	ENST00000251127	NM_052867.2	446	Att/Gtt	0	1	1	UPI000004EBBD	0	NA	ENST00000251127		ENSG00000102452	19082		181	1.53		HGNC	p.I446V		NALCN		SNV			1				ENST00000376196	protein_coding	getma.org/?cm=var&var=hg19,13,101890204,T,C&fts=all		Gene3D:1.20.120.350,Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF176,Superfamily_domains:SSF81324		I/V		C	low	1418/6816		getma.org/?cm=msa&ty=f&p=NALCN_HUMAN&rb=420&re=598&var=I446V	tolerated(0.31)	B3KX53_HUMAN,B3KMK1_HUMAN			YES	NALCN,missense_variant,p.Ile446Val,ENST00000251127,NM_052867.2;NALCN,missense_variant,p.Ile446Val,ENST00000376196,;NALCN,non_coding_transcript_exon_variant,,ENST00000470333,;NALCN,non_coding_transcript_exon_variant,,ENST00000497170,;							MODERATE	1336/5217	I446V	NALCN_HUMAN			Transcript		benign(0.173)	.	ENSP00000251127		CCDS9498.1			1	
ZNF655	0	LGGM	GRCh37	7	99170413	99170413	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	41	3	.	.	ENST00000424881.1:c.787A>G	p.Thr263Ala	p.T263A	ENST00000424881	NM_001085368.1	263	Act/Gct	0	1		UPI0000070B32	0	getma.org/pdb.php?prot=ZN655_HUMAN&from=226&to=251&var=T228A	ENST00000252713		ENSG00000197343	30899		44	0.425		HGNC	p.T263A		ZNF655		SNV							ENST00000424881	protein_coding	getma.org/?cm=var&var=hg19,7,99170413,A,G&fts=all		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,Superfamily_domains:SSF57667		T/A		G	neutral	919/2535		getma.org/?cm=msa&ty=f&p=ZN655_HUMAN&rb=206&re=271&var=T228A	tolerated(0.15)	Q68DU4_HUMAN				ZNF655,missense_variant,p.Thr263Ala,ENST00000424881,NM_001085368.1,NM_001083956.1;ZNF655,missense_variant,p.Thr228Ala,ENST00000394163,NM_001009960.1,NM_138494.2;ZNF655,missense_variant,p.Thr228Ala,ENST00000252713,;ZNF655,missense_variant,p.Thr263Ala,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,;							MODERATE	682/1476	T228A	ZN655_HUMAN			Transcript		benign(0.118)	.	ENSP00000252713		CCDS5669.1			1	
AMOTL1	0	LGGM	GRCh37	11	94603905	94603905	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	26	3	.	.	ENST00000433060.2:c.2816G>A	p.Ser939Asn	p.S939N	ENST00000433060	NM_130847.2	939	aGc/aAc	0	1	1	UPI00000742C2	0	NA	ENST00000433060		ENSG00000166025	17811	0.000171	29	1.01		HGNC	p.S889N	rs755842546	AMOTL1		SNV							ENST00000317829	protein_coding	getma.org/?cm=var&var=hg19,11,94603905,G,A&fts=all		hmmpanther:PTHR14826,hmmpanther:PTHR14826:SF12		S/N		A	low	2957/8970		getma.org/?cm=msa&ty=f&p=AMOL1_HUMAN&rb=814&re=956&var=S939N	tolerated_low_confidence(0.37)				YES	AMOTL1,missense_variant,p.Ser939Asn,ENST00000433060,NM_130847.2;AMOTL1,missense_variant,p.Ser889Asn,ENST00000317829,;AMOTL1,missense_variant,p.Ser526Asn,ENST00000317837,;RP11-856F16.2,downstream_gene_variant,,ENST00000545958,;AMOTL1,downstream_gene_variant,,ENST00000537191,;							MODERATE	2816/2871	S939N	AMOL1_HUMAN			Transcript		benign(0.005)	.	ENSP00000387739	8.28E-06	CCDS44712.1			1	
ANK3	0	LGGM	GRCh37	10	61932713	61932713	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	35	3	.	.	ENST00000280772.2:c.2327C>T	p.Thr776Met	p.T776M	ENST00000280772	NM_020987.3	776	aCg/aTg	0	1	1	UPI0000141BA9	0	getma.org/pdb.php?prot=ANK3_HUMAN&from=738&to=816&var=T776M	ENST00000280772		ENSG00000151150	494		38	1.295		HGNC	p.T770M	rs765118960	ANK3		SNV			1				ENST00000373827	protein_coding	getma.org/?cm=var&var=hg19,10,61932713,G,A&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF00023,PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF15,SMART_domains:SM00248,Superfamily_domains:SSF48403		T/M		A	low	2519/16874	1.50E-05	getma.org/?cm=msa&ty=f&p=ANK3_HUMAN&rb=738&re=816&var=T776M		D6RFK6_HUMAN,D6RBY7_HUMAN,B1AQT1_HUMAN			YES	ANK3,missense_variant,p.Thr776Met,ENST00000280772,NM_020987.3;ANK3,missense_variant,p.Thr770Met,ENST00000373827,NM_001204403.1;ANK3,missense_variant,p.Thr759Met,ENST00000503366,NM_001204404.1;	0.000116						MODERATE	2327/13134	T776M	ANK3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000280772	1.65E-05	CCDS7258.1			1	
NOX4	0	LGGM	GRCh37	11	89224381	89224381	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	15	3	.	.	ENST00000263317.4:c.34G>T	p.Glu12Ter	p.E12*	ENST00000263317		12	Gaa/Taa	0	1	1	UPI000045655B	0	NA	ENST00000263317		ENSG00000086991	7891		18	0		HGNC	p.E12X		NOX4		SNV							ENST00000375979	protein_coding	getma.org/?cm=var&var=hg19,11,89224381,C,A&fts=all		hmmpanther:PTHR11972		E/*		A	NA	273/2388		NA		E7EMD7_HUMAN			YES	NOX4,stop_gained,p.Glu12Ter,ENST00000263317,;NOX4,stop_gained,p.Glu12Ter,ENST00000534731,;NOX4,stop_gained,p.Glu12Ter,ENST00000525196,;NOX4,stop_gained,p.Glu12Ter,ENST00000375979,;NOX4,stop_gained,p.Glu12Ter,ENST00000531342,;NOX4,stop_gained,p.Glu12Ter,ENST00000393282,;NOX4,5_prime_UTR_variant,,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,5_prime_UTR_variant,,ENST00000527626,;NOX4,intron_variant,,ENST00000424319,;NOX4,intron_variant,,ENST00000542487,NM_001143837.1;NOX4,intron_variant,,ENST00000527956,;NOX4,intron_variant,,ENST00000532825,;NOX4,upstream_gene_variant,,ENST00000343727,;NOX4,upstream_gene_variant,,ENST00000528341,;NOX4,upstream_gene_variant,,ENST00000413594,;NOX4,stop_gained,p.Glu12Ter,ENST00000529343,;NOX4,non_coding_transcript_exon_variant,,ENST00000525278,;							HIGH	34/1737	E12*	NOX4_HUMAN			Transcript			.	ENSP00000263317		CCDS8285.1			1	
ELMO1	0	LGGM	GRCh37	7	37052983	37052983	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	37	3	.	.	ENST00000310758.4:c.1358A>T	p.Glu453Val	p.E453V	ENST00000310758	NM_014800.10	453	gAg/gTg	0	1	1	UPI000006F687	0	NA	ENST00000310758		ENSG00000155849	16286		40	2.16		HGNC	p.E453V		ELMO1		SNV							ENST00000448602	protein_coding	getma.org/?cm=var&var=hg19,7,37052983,T,A&fts=all		PROSITE_profiles:PS51335,hmmpanther:PTHR12771:SF23,hmmpanther:PTHR12771,Pfam_domain:PF04727		E/V		A	medium	2006/4022		getma.org/?cm=msa&ty=f&p=ELMO1_HUMAN&rb=300&re=482&var=E453V	deleterious(0)	C9JIW2_HUMAN,C9JB20_HUMAN,C9J5X3_HUMAN,B4DJV6_HUMAN,A4D1X5_HUMAN			YES	ELMO1,missense_variant,p.Glu453Val,ENST00000310758,NM_014800.10,NM_001206480.1;ELMO1,missense_variant,p.Glu453Val,ENST00000442504,NM_001206482.1;ELMO1,missense_variant,p.Glu453Val,ENST00000448602,;ELMO1,missense_variant,p.Glu155Val,ENST00000341056,;ELMO1-AS1,non_coding_transcript_exon_variant,,ENST00000419535,;ELMO1,non_coding_transcript_exon_variant,,ENST00000472359,;ELMO1,3_prime_UTR_variant,,ENST00000420636,;							MODERATE	1358/2184	E453V	ELMO1_HUMAN			Transcript		possibly_damaging(0.673)	.	ENSP00000312185		CCDS5449.1			1	
HOXA9	0	LGGM	GRCh37	7	27203390	27203390	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	38	3	.	.	ENST00000343483.6:c.651G>T	p.Gln217His	p.Q217H	ENST00000343483	NM_152739.3	217	caG/caT	0	1	1	UPI0000000CA4	0	getma.org/pdb.php?prot=HXA9_HUMAN&from=207&to=263&var=Q217H	ENST00000343483		ENSG00000078399	5109		41	4.095		HGNC	p.Q57H		HOXA9		SNV							ENST00000470747	protein_coding	getma.org/?cm=var&var=hg19,7,27203390,C,A&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PIRSF_domain:PIRSF037109,PROSITE_profiles:PS50071,hmmpanther:PTHR24325,hmmpanther:PTHR24325:SF9,SMART_domains:SM00389,Superfamily_domains:SSF46689		Q/H		A	high	724/2060		getma.org/?cm=msa&ty=f&p=HXA9_HUMAN&rb=207&re=263&var=Q217H	deleterious(0)				YES	HOXA9,missense_variant,p.Gln217His,ENST00000343483,NM_152739.3;RP1-170O19.20,missense_variant,p.Gln57His,ENST00000470747,;HOXA9,3_prime_UTR_variant,,ENST00000396345,;RP1-170O19.21,downstream_gene_variant,,ENST00000602610,;HOXA10-AS,upstream_gene_variant,,ENST00000519694,;HOXA9,non_coding_transcript_exon_variant,,ENST00000497089,;HOXA9,non_coding_transcript_exon_variant,,ENST00000487384,;RP1-170O19.20,non_coding_transcript_exon_variant,,ENST00000465941,;HOXA9,non_coding_transcript_exon_variant,,ENST00000489695,;							MODERATE	651/819	Q217H	HXA9_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000343619		CCDS5409.1			1	
CTNNB1	0	LGGM	GRCh37	3	41268766	41268766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	99	9	.	.	ENST00000349496.5:c.1004A>T	p.Lys335Ile	p.K335I	ENST00000349496	NM_001904.3	335	aAa/aTa	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=265&to=349&var=K335I	ENST00000349496		ENSG00000168036	2514		108	3.02		HGNC	p.K328I	COSM17797	CTNNB1		SNV			1			1	ENST00000453024	protein_coding	getma.org/?cm=var&var=hg19,3,41268766,A,T&fts=all		PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371,Prints_domain:PR01869		K/I		T	medium	1284/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=265&re=349&var=K335I	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Lys335Ile,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Lys335Ile,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Lys328Ile,ENST00000453024,;CTNNB1,missense_variant,p.Lys335Ile,ENST00000405570,;CTNNB1,downstream_gene_variant,,ENST00000450969,;CTNNB1,downstream_gene_variant,,ENST00000431914,;CTNNB1,downstream_gene_variant,,ENST00000441708,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,downstream_gene_variant,,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000488914,;					1		MODERATE	1004/2346	K335I	CTNB1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000344456		CCDS2694.1			1	
GSE1	0	LGGM	GRCh37	16	85699580	85699580	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	33	4	.	.	ENST00000253458.7:c.2759-2A>G		p.X920_splice	ENST00000253458	NM_014615.3			0	1	1	UPI0000185F04	0		ENST00000253458		ENSG00000131149	28979		37			HGNC	-		GSE1		SNV							ENST00000405402	protein_coding							G		-/7495				C9JLW9_HUMAN			YES	GSE1,splice_acceptor_variant,,ENST00000253458,NM_014615.3;GSE1,splice_acceptor_variant,,ENST00000393243,NM_001278184.1;GSE1,splice_acceptor_variant,,ENST00000412692,;GSE1,splice_acceptor_variant,,ENST00000405402,NM_001134473.2;GSE1,splice_acceptor_variant,,ENST00000438180,;GSE1,splice_acceptor_variant,,ENST00000469381,;GSE1,splice_acceptor_variant,,ENST00000562659,;GSE1,splice_acceptor_variant,,ENST00000495192,;GSE1,downstream_gene_variant,,ENST00000479488,;GSE1,upstream_gene_variant,,ENST00000496345,;							HIGH	2759/3654		GSE1_HUMAN			Transcript			.	ENSP00000253458		CCDS10952.1			1	
DDX54	0	LGGM	GRCh37	12	113614736	113614736	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	57	4	.	.	ENST00000314045.7:c.661A>G	p.Ile221Val	p.I221V	ENST00000314045	NM_001111322.1	221	Att/Gtt	0	1		UPI00003588F0	0	getma.org/pdb.php?prot=DDX54_HUMAN&from=120&to=287&var=I221V	ENST00000306014		ENSG00000123064	20084		61	0.11		HGNC	p.I138V		DDX54		SNV							ENST00000552375	protein_coding	getma.org/?cm=var&var=hg19,12,113614736,T,C&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00487,Pfam_domain:PF00270,Gene3D:3.40.50.300,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF71,PROSITE_profiles:PS51192		I/V		C	neutral	689/4377		getma.org/?cm=msa&ty=f&p=DDX54_HUMAN&rb=120&re=287&var=I221V	tolerated(0.42)	F8VRX4_HUMAN				DDX54,missense_variant,p.Ile221Val,ENST00000314045,NM_001111322.1;DDX54,missense_variant,p.Ile221Val,ENST00000306014,NM_024072.3;DDX54,missense_variant,p.Ile138Val,ENST00000552375,;Y_RNA,downstream_gene_variant,,ENST00000364338,;DDX54,3_prime_UTR_variant,,ENST00000551344,;DDX54,non_coding_transcript_exon_variant,,ENST00000546869,;							MODERATE	661/2646	I221V	DDX54_HUMAN			Transcript		benign(0.252)	.	ENSP00000304072		CCDS31907.1			1	
CD70	0	LGGM	GRCh37	19	6590880	6590880	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	46	4	.	.	ENST00000245903.3:c.134A>G	p.Gln45Arg	p.Q45R	ENST00000245903	NM_001252.3	45	cAg/cGg	0	1	1	UPI00001370B6	0	NA	ENST00000245903		ENSG00000125726	11937		50	0.345		HGNC	p.Q45R		CD70		SNV							ENST00000597430	protein_coding	getma.org/?cm=var&var=hg19,19,6590880,T,C&fts=all		hmmpanther:PTHR15152,hmmpanther:PTHR15152:SF0		Q/R		C	neutral	284/913		getma.org/?cm=msa&ty=f&p=CD70_HUMAN&rb=1&re=72&var=Q45R	tolerated(0.27)	Q53XX4_HUMAN,M0QZW2_HUMAN			YES	CD70,missense_variant,p.Gln45Arg,ENST00000245903,NM_001252.3;CD70,missense_variant,p.Gln45Arg,ENST00000423145,;CD70,missense_variant,p.Gln45Arg,ENST00000597430,;RPL7P50,upstream_gene_variant,,ENST00000600588,;							MODERATE	134/582	Q45R	CD70_HUMAN			Transcript		benign(0.069)	.	ENSP00000245903		CCDS12170.1			1	
CEP44	0	LGGM	GRCh37	4	175224883	175224883	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	47	4	.	.	ENST00000457424.2:c.267A>G	p.Pro89=	p.P89=	ENST00000457424	NM_001145314.1	89	ccA/ccG	0	1		UPI0000074306	0		ENST00000296519		ENSG00000164118	29356		51			HGNC	p.P89P		CEP44		SNV							ENST00000426172	protein_coding			Pfam_domain:PF15007,hmmpanther:PTHR31477,hmmpanther:PTHR31477:SF1		P		G		319/4173				D6RGX6_HUMAN,D6RC25_HUMAN,D6RBX1_HUMAN				CEP44,synonymous_variant,p.=,ENST00000503780,NM_001040157.2;CEP44,synonymous_variant,p.=,ENST00000296519,;CEP44,synonymous_variant,p.=,ENST00000457424,NM_001145314.1;CEP44,synonymous_variant,p.=,ENST00000426172,;CEP44,synonymous_variant,p.=,ENST00000515299,;CEP44,synonymous_variant,p.=,ENST00000503053,;CEP44,synonymous_variant,p.=,ENST00000514712,;CEP44,synonymous_variant,p.=,ENST00000505124,;CEP44,synonymous_variant,p.=,ENST00000396791,;							LOW	267/1173		CEP44_HUMAN			Transcript			.	ENSP00000296519		CCDS34106.1			1	
DEFB131	0	LGGM	GRCh37	4	9446295	9446295	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	89	4	.	.	ENST00000334879.1:c.36C>T	p.Ser12=	p.S12=	ENST00000334879	NM_001040448.2	12	tcC/tcT	0	1	1	UPI0000246FB6	0		ENST00000334879		ENSG00000186146	18108		93			HGNC	p.S12S		DEFB131		SNV							ENST00000334879	protein_coding			hmmpanther:PTHR15001,hmmpanther:PTHR15001:SF18,Cleavage_site_(Signalp):SignalP-noTM		S		T		36/213							YES	DEFB131,synonymous_variant,p.=,ENST00000334879,NM_001040448.2,NM_001242853.1;							LOW	36/213		DB131_HUMAN			Transcript			.	ENSP00000335538		CCDS43213.1			1	
DNAH6	0	LGGM	GRCh37	2	84940253	84940253	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	65	4	.	.	ENST00000389394.3:c.9413T>G	p.Ile3138Ser	p.I3138S	ENST00000389394	NM_001370.1	3138	aTt/aGt	0	1		UPI000163AC9D	0	getma.org/pdb.php?prot=DYH6_HUMAN&from=3041&to=3271&var=I3138S	ENST00000237449		ENSG00000115423	2951		69	3.86		HGNC	p.I3138S		DNAH6		SNV							ENST00000237449	protein_coding	getma.org/?cm=var&var=hg19,2,84940253,T,G&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF12781		I/S		G	high	9421/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=3041&re=3271&var=I3138S	deleterious(0)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Ile3138Ser,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Ile3138Ser,ENST00000237449,;							MODERATE	9413/12477	I3138S	DYH6_HUMAN			Transcript		possibly_damaging(0.853)	.	ENSP00000237449		CCDS46348.1			1	
RHOV	0	LGGM	GRCh37	15	41165335	41165335	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	79	4	.	.	ENST00000220507.4:c.632G>A	p.Arg211Gln	p.R211Q	ENST00000220507	NM_133639.3	211	cGg/cAg	0	1	1	UPI00000412A5	0	getma.org/pdb.php?prot=RHOV_HUMAN&from=208&to=236&var=R211Q	ENST00000220507		ENSG00000104140	18313		83	1.065		HGNC	p.R211Q		RHOV		SNV							ENST00000220507	protein_coding	getma.org/?cm=var&var=hg19,15,41165335,C,T&fts=all		hmmpanther:PTHR24072:SF144,hmmpanther:PTHR24072		R/Q		T	low	782/1705		getma.org/?cm=msa&ty=f&p=RHOV_HUMAN&rb=178&re=236&var=R211Q	tolerated(0.4)				YES	RHOV,missense_variant,p.Arg211Gln,ENST00000220507,NM_133639.3;AC025166.1,upstream_gene_variant,,ENST00000582049,;							MODERATE	632/711	R211Q	RHOV_HUMAN			Transcript		benign(0.001)	.	ENSP00000220507		CCDS10068.1			1	
LRP12	0	LGGM	GRCh37	8	105511557	105511557	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	71	4	.	.	ENST00000276654.5:c.463G>A	p.Ala155Thr	p.A155T	ENST00000276654	NM_013437.4	155	Gca/Aca	0	1	1	UPI0000047A9F	0	getma.org/pdb.php?prot=LRP12_HUMAN&from=47&to=156&var=A155T	ENST00000276654		ENSG00000147650	31708		75	-0.8		HGNC	p.A136T	COSM3833822	LRP12		SNV						1	ENST00000424843	protein_coding	getma.org/?cm=var&var=hg19,8,105511557,C,T&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF216,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		A/T		T	neutral	572/4112		getma.org/?cm=msa&ty=f&p=LRP12_HUMAN&rb=47&re=156&var=A155T	tolerated(0.17)	E5RIW8_HUMAN,B3KWZ8_HUMAN			YES	LRP12,missense_variant,p.Ala155Thr,ENST00000276654,NM_013437.4;LRP12,missense_variant,p.Ala136Thr,ENST00000424843,NM_001135703.2;LRP12,upstream_gene_variant,,ENST00000523007,;LRP12,non_coding_transcript_exon_variant,,ENST00000520770,;LRP12,upstream_gene_variant,,ENST00000518375,;LRP12,upstream_gene_variant,,ENST00000522046,;LRP12,downstream_gene_variant,,ENST00000519675,;					1		MODERATE	463/2580	A155T	LRP12_HUMAN			Transcript		benign(0.006)	.	ENSP00000276654		CCDS6303.1			1	
PLG	0	LGGM	GRCh37	6	161173242	161173242	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	58	4	.	.	ENST00000308192.9:c.2221T>C	p.Ser741Pro	p.S741P	ENST00000308192	NM_000301.3	741	Tcc/Ccc	0	1	1	UPI000000D8B8	0	getma.org/pdb.php?prot=PLMN_HUMAN&from=581&to=803&var=S741P	ENST00000308192		ENSG00000122194	9071		62	0.29		HGNC	p.S741P		PLG		SNV			1				ENST00000308192	protein_coding	getma.org/?cm=var&var=hg19,6,161173242,T,C&fts=all		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		S/P		C	neutral	2284/2741		getma.org/?cm=msa&ty=f&p=PLMN_HUMAN&rb=581&re=803&var=S741P	tolerated(0.14)	Q9UMI2_HUMAN,Q68DS2_HUMAN,Q5TEH5_HUMAN,B4DPH4_HUMAN			YES	PLG,missense_variant,p.Ser741Pro,ENST00000308192,NM_000301.3;PLG,non_coding_transcript_exon_variant,,ENST00000461414,;PLG,non_coding_transcript_exon_variant,,ENST00000467466,;							MODERATE	2221/2433	S741P	PLMN_HUMAN			Transcript		benign(0.004)	.	ENSP00000308938		CCDS5279.1			1	
SHANK3	0	LGGM	GRCh37	22	51159790	51159790	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	25	4	.	.	ENST00000262795.3:c.3577G>T	p.Ala1193Ser	p.A1193S	ENST00000262795	NM_033517.1	1193	Gca/Tca	0	1	1	UPI0000DD85FB	0	NA	ENST00000262795		ENSG00000251322	14294		29	0.345		HGNC	p.A1179S		SHANK3		SNV			1				ENST00000445220	protein_coding	getma.org/?cm=var&var=hg19,22,51159790,G,T&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF4		A/S		T	neutral	3577/7145		getma.org/?cm=msa&ty=f&p=SHAN3_HUMAN&rb=741&re=1651&var=A1178S		F8TCV3_HUMAN,F2Z3L0_HUMAN			YES	SHANK3,missense_variant,p.Ala1163Ser,ENST00000414786,;SHANK3,missense_variant,p.Ala1193Ser,ENST00000262795,NM_033517.1;SHANK3,missense_variant,p.Ala1179Ser,ENST00000445220,;							MODERATE	3577/5244	A1178S				Transcript		benign(0.006)	.	ENSP00000442518					1	
IGF2BP1	0	LGGM	GRCh37	17	47118811	47118811	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	80	4	.	.	ENST00000290341.3:c.890G>C	p.Arg297Pro	p.R297P	ENST00000290341	NM_006546.3	297	cGg/cCg	0	1	1	UPI0000117170	0	getma.org/pdb.php?prot=IF2B1_HUMAN&from=278&to=343&var=R297P	ENST00000290341		ENSG00000159217	28866		84	2.44		HGNC	p.R297P		IGF2BP1		SNV							ENST00000290341	protein_coding	getma.org/?cm=var&var=hg19,17,47118811,G,C&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR10288:SF136,hmmpanther:PTHR10288,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791		R/P		C	medium	1224/8274		getma.org/?cm=msa&ty=f&p=IF2B1_HUMAN&rb=278&re=343&var=R297P	deleterious(0)	D3DTW3_HUMAN			YES	IGF2BP1,missense_variant,p.Arg297Pro,ENST00000290341,NM_006546.3;IGF2BP1,missense_variant,p.Arg158Pro,ENST00000431824,NM_001160423.1;RNU6-826P,downstream_gene_variant,,ENST00000516827,;IGF2BP1,downstream_gene_variant,,ENST00000515586,;IGF2BP1,downstream_gene_variant,,ENST00000499130,;IGF2BP1,downstream_gene_variant,,ENST00000505562,;RP11-501C14.7,downstream_gene_variant,,ENST00000511142,;							MODERATE	890/1734	R297P	IF2B1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000290341		CCDS11543.1			1	
KMT2E	0	LGGM	GRCh37	7	104731684	104731684	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	68	5	.	.	ENST00000311117.3:c.1645A>G	p.Ile549Val	p.I549V	ENST00000311117	NM_182931.2	549	Ata/Gta	0	1		UPI0000074133	0	NA	ENST00000257745		ENSG00000005483	18541		73	1.39		HGNC	p.I549V		KMT2E		SNV							ENST00000334877	protein_coding	getma.org/?cm=var&var=hg19,7,104731684,A,G&fts=all		hmmpanther:PTHR16286,hmmpanther:PTHR16286:SF9		I/V		G	low	2031/6714		getma.org/?cm=msa&ty=f&p=MLL5_HUMAN&rb=448&re=647&var=I549V	tolerated(0.06)	O95038_HUMAN,C9JQ68_HUMAN,C9JNE1_HUMAN				KMT2E,missense_variant,p.Ile549Val,ENST00000334877,;KMT2E,missense_variant,p.Ile549Val,ENST00000311117,NM_182931.2;KMT2E,missense_variant,p.Ile549Val,ENST00000257745,NM_018682.3;KMT2E,missense_variant,p.Ile549Val,ENST00000476671,;KMT2E,5_prime_UTR_variant,,ENST00000334914,;KMT2E,downstream_gene_variant,,ENST00000478990,;KMT2E,missense_variant,p.Ile549Val,ENST00000334884,;KMT2E,downstream_gene_variant,,ENST00000482560,;							MODERATE	1645/5577	I549V	KMT2E_HUMAN			Transcript		benign(0.031)	.	ENSP00000257745		CCDS34723.1			1	
PCSK2	0	LGGM	GRCh37	20	17462431	17462431	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	30	5	.	.	ENST00000262545.2:c.1633T>C	p.Ser545Pro	p.S545P	ENST00000262545	NM_002594.3	545	Tcc/Ccc	0	1	1	UPI0000000C6E	0	getma.org/pdb.php?prot=NEC2_HUMAN&from=504&to=591&var=S545P	ENST00000262545		ENSG00000125851	8744		35	1.56		HGNC	p.S545P		PCSK2		SNV							ENST00000262545	protein_coding	getma.org/?cm=var&var=hg19,20,17462431,T,C&fts=all		hmmpanther:PTHR10795,hmmpanther:PTHR10795:SF11,Pfam_domain:PF01483,Gene3D:2.60.120.260,Superfamily_domains:SSF49785		S/P		C	low	1948/4740		getma.org/?cm=msa&ty=f&p=NEC2_HUMAN&rb=504&re=591&var=S545P	deleterious(0)	Q9UM69_HUMAN			YES	PCSK2,missense_variant,p.Ser545Pro,ENST00000262545,NM_002594.3;PCSK2,missense_variant,p.Ser526Pro,ENST00000377899,NM_001201528.1;PCSK2,missense_variant,p.Ser510Pro,ENST00000536609,NM_001201529.1;PCSK2,non_coding_transcript_exon_variant,,ENST00000459871,;DYNLT3P1,upstream_gene_variant,,ENST00000378574,;							MODERATE	1633/1917	S545P	NEC2_HUMAN			Transcript		possibly_damaging(0.675)	.	ENSP00000262545		CCDS13125.1			1	
RAPGEF1	0	LGGM	GRCh37	9	134518645	134518645	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	79	5	.	.	ENST00000372190.3:c.478G>A	p.Asp160Asn	p.D160N	ENST00000372190	NM_198679.1	160	Gat/Aat	0	1		UPI000021FB80	0	NA	ENST00000372189		ENSG00000107263	4568		84	1.87		HGNC	p.D142N	rs760601332	RAPGEF1	7.27E-05	SNV							ENST00000266110	protein_coding	getma.org/?cm=var&var=hg19,9,134518645,C,T&fts=all		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40		D/N		T	low	548/6085		getma.org/?cm=msa&ty=f&p=RPGF1_HUMAN&rb=4&re=676&var=D142N	tolerated(0.17)					RAPGEF1,missense_variant,p.Asp159Asn,ENST00000372195,;RAPGEF1,missense_variant,p.Asp160Asn,ENST00000372190,NM_198679.1;RAPGEF1,missense_variant,p.Asp142Asn,ENST00000372189,NM_005312.2;RAPGEF1,missense_variant,p.Asp160Asn,ENST00000427994,;RAPGEF1,missense_variant,p.Asp121Asn,ENST00000438647,;RAPGEF1,non_coding_transcript_exon_variant,,ENST00000481260,;							MODERATE	424/3234	D142N	RPGF1_HUMAN			Transcript		benign(0.279)	.	ENSP00000361263	8.27E-06	CCDS48047.1			1	
ATP1A4	0	LGGM	GRCh37	1	160141134	160141134	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	72	5	.	.	ENST00000368081.4:c.1585C>A	p.Leu529Ile	p.L529I	ENST00000368081	NM_144699.3	529	Ctt/Att	0	1	1	UPI0000124FC5	0	getma.org/pdb.php?prot=AT1A4_HUMAN&from=378&to=735&var=L529I	ENST00000368081		ENSG00000132681	14073		77	1.18		HGNC	p.L529I		ATP1A4		SNV							ENST00000368081	protein_coding	getma.org/?cm=var&var=hg19,1,160141134,C,A&fts=all		Gene3D:3.40.1110.10,Pfam_domain:PF00702,Prints_domain:PR00121,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF233,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01106		L/I		A	low	2056/3839		getma.org/?cm=msa&ty=f&p=AT1A4_HUMAN&rb=378&re=735&var=L529I	deleterious(0.05)	Q13818_HUMAN			YES	ATP1A4,missense_variant,p.Leu529Ile,ENST00000368081,NM_144699.3;ATP1A4,upstream_gene_variant,,ENST00000418334,;ATP1A4,3_prime_UTR_variant,,ENST00000477338,;ATP1A4,non_coding_transcript_exon_variant,,ENST00000469023,;							MODERATE	1585/3090	L529I	AT1A4_HUMAN			Transcript		benign(0.438)	.	ENSP00000357060		CCDS1197.1			1	
MTFR2	0	LGGM	GRCh37	6	136564011	136564011	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	75	5	.	.	ENST00000420702.1:c.269A>G	p.Tyr90Cys	p.Y90C	ENST00000420702	NM_001099286.1	90	tAt/tGt	0	1	1	UPI000004FA2A	0	NA	ENST00000420702		ENSG00000146410	21115		80	1.09		HGNC	p.Y90C		MTFR2		SNV							ENST00000451457	protein_coding	getma.org/?cm=var&var=hg19,6,136564011,T,C&fts=all		Pfam_domain:PF05308,hmmpanther:PTHR14215:SF2,hmmpanther:PTHR14215		Y/C		C	low	659/1793		getma.org/?cm=msa&ty=f&p=FA54A_HUMAN&rb=21&re=286&var=Y90C	tolerated(0.33)	E9PN39_HUMAN			YES	MTFR2,missense_variant,p.Tyr90Cys,ENST00000420702,NM_001099286.1;MTFR2,missense_variant,p.Tyr90Cys,ENST00000451457,NM_138419.3;MTFR2,missense_variant,p.Tyr47Cys,ENST00000418509,;MTFR2,upstream_gene_variant,,ENST00000532958,;MTFR2,downstream_gene_variant,,ENST00000445767,;MTFR2,3_prime_UTR_variant,,ENST00000367784,;							MODERATE	269/1158	Y90C	MTFR2_HUMAN			Transcript		benign(0.012)	.	ENSP00000395232		CCDS5176.1			1	
CAST	0	LGGM	GRCh37	5	96103679	96103679	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	62	5	.	.	ENST00000395812.2:c.2121A>G	p.Thr707=	p.T707=	ENST00000395812	NM_001042440.2	707	acA/acG	0	1		UPI0000167BB1	0		ENST00000341926		ENSG00000153113	1515		67			HGNC	p.T380T		CAST		SNV							ENST00000508579	protein_coding			hmmpanther:PTHR10077:SF0,hmmpanther:PTHR10077		T		G		2157/2487				Q13940_HUMAN,E7ES10_HUMAN,E7EQ12_HUMAN,B7Z5T9_HUMAN,B7Z574_HUMAN				CAST,synonymous_variant,p.=,ENST00000395813,NM_001284213.1;CAST,synonymous_variant,p.=,ENST00000359176,NM_001284213.1;CAST,synonymous_variant,p.=,ENST00000325674,;CAST,synonymous_variant,p.=,ENST00000395812,NM_001042440.2,NM_001284213.1,NM_001284212.1;CAST,synonymous_variant,p.=,ENST00000309190,NM_173060.3,NM_001284213.1;CAST,synonymous_variant,p.=,ENST00000437034,;CAST,synonymous_variant,p.=,ENST00000511049,;CAST,synonymous_variant,p.=,ENST00000338252,NM_001190442.1;CAST,synonymous_variant,p.=,ENST00000508830,;CAST,synonymous_variant,p.=,ENST00000341926,;CAST,synonymous_variant,p.=,ENST00000511782,;CAST,synonymous_variant,p.=,ENST00000508608,;CAST,synonymous_variant,p.=,ENST00000504465,;CAST,synonymous_variant,p.=,ENST00000510756,;CAST,synonymous_variant,p.=,ENST00000509903,;CAST,synonymous_variant,p.=,ENST00000510500,;CAST,synonymous_variant,p.=,ENST00000508579,;CAST,synonymous_variant,p.=,ENST00000515663,;ERAP1,intron_variant,,ENST00000296754,NM_016442.3;CAST,downstream_gene_variant,,ENST00000510156,;CAST,non_coding_transcript_exon_variant,,ENST00000348386,;CAST,synonymous_variant,p.=,ENST00000484552,;CAST,synonymous_variant,p.=,ENST00000510098,;CAST,upstream_gene_variant,,ENST00000509529,;							LOW	1995/2127		ICAL_HUMAN			Transcript			.	ENSP00000339914					1	
TRMT12	0	LGGM	GRCh37	8	125464013	125464013	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	82	5	.	.	ENST00000328599.3:c.845G>C	p.Gly282Ala	p.G282A	ENST00000328599	NM_017956.3	282	gGa/gCa	0	1	1	UPI0000140A61	0	getma.org/pdb.php?prot=TYW2_HUMAN&from=134&to=336&var=G282A	ENST00000328599		ENSG00000183665	26091		87	2.685		HGNC	p.G282A		TRMT12		SNV							ENST00000328599	protein_coding	getma.org/?cm=var&var=hg19,8,125464013,G,C&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF02475,PROSITE_profiles:PS51684,hmmpanther:PTHR23245,hmmpanther:PTHR23245:SF33,Superfamily_domains:SSF53335		G/A		C	medium	966/2215		getma.org/?cm=msa&ty=f&p=TYW2_HUMAN&rb=134&re=336&var=G282A	deleterious(0.01)				YES	TRMT12,missense_variant,p.Gly282Ala,ENST00000328599,NM_017956.3;TRMT12,intron_variant,,ENST00000521443,;TRMT12,intron_variant,,ENST00000522518,;							MODERATE	845/1347	G282A	TYW2_HUMAN			Transcript		possibly_damaging(0.491)	.	ENSP00000329858		CCDS6349.1			1	
CERS2	0	LGGM	GRCh37	1	150940639	150940639	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	81	5	.	.	ENST00000271688.6:c.330T>A	p.Ser110=	p.S110=	ENST00000271688	NM_181746.3	110	tcT/tcA	0	1	1	UPI0000001237	0		ENST00000271688		ENSG00000143418	14076		86			HGNC	p.S110S		CERS2		SNV							ENST00000271688	protein_coding			PROSITE_profiles:PS50071,hmmpanther:PTHR12560:SF7,hmmpanther:PTHR12560,Gene3D:1.10.10.60,Pfam_domain:PF00046,PIRSF_domain:PIRSF005225,Superfamily_domains:SSF46689		S		T		717/2505				Q5SZE6_HUMAN,Q5SZE3_HUMAN,Q5SZE2_HUMAN,Q5SZE1_HUMAN,H0YKH6_HUMAN			YES	CERS2,synonymous_variant,p.=,ENST00000271688,NM_181746.3;CERS2,synonymous_variant,p.=,ENST00000368954,NM_022075.4;CERS2,synonymous_variant,p.=,ENST00000561294,;CERS2,synonymous_variant,p.=,ENST00000368949,;CERS2,synonymous_variant,p.=,ENST00000361419,;CERS2,synonymous_variant,p.=,ENST00000558062,;CERS2,synonymous_variant,p.=,ENST00000421609,;CERS2,synonymous_variant,p.=,ENST00000457392,;SETDB1,downstream_gene_variant,,ENST00000271640,NM_001145415.1,NM_012432.3;SETDB1,downstream_gene_variant,,ENST00000368969,;SETDB1,downstream_gene_variant,,ENST00000498193,;CERS2,upstream_gene_variant,,ENST00000560793,;RP11-316M1.12,downstream_gene_variant,,ENST00000561111,;RP11-316M1.12,downstream_gene_variant,,ENST00000560481,;RP11-316M1.3,upstream_gene_variant,,ENST00000412838,;CERS2,non_coding_transcript_exon_variant,,ENST00000345896,;CERS2,non_coding_transcript_exon_variant,,ENST00000460664,;CERS2,non_coding_transcript_exon_variant,,ENST00000559020,;SETDB1,downstream_gene_variant,,ENST00000497314,;CERS2,upstream_gene_variant,,ENST00000482825,;SETDB1,downstream_gene_variant,,ENST00000533529,;CERS2,upstream_gene_variant,,ENST00000559660,;							LOW	330/1143		CERS2_HUMAN			Transcript			.	ENSP00000271688		CCDS973.1			1	
KIAA0368	0	LGGM	GRCh37	9	114152004	114152004	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	97	6	.	.	ENST00000259335.4:c.3814-1G>T		p.X1272_splice	ENST00000259335	NM_001080398.1			0	1		UPI0002B83222	0		ENST00000338205		ENSG00000136813	29020		103			HGNC	-		KIAA0368		SNV							ENST00000338205	protein_coding							A		-/7078								KIAA0368,splice_acceptor_variant,,ENST00000259335,NM_001080398.1;KIAA0368,splice_acceptor_variant,,ENST00000338205,;KIAA0368,splice_acceptor_variant,,ENST00000374378,;							HIGH	3280/5520		ECM29_HUMAN			Transcript			.	ENSP00000339889					1	
GSS	0	LGGM	GRCh37	20	33517202	33517202	+	splice_donor_variant	Splice_Site	SNP	A	A	C	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	80	6	.	.	ENST00000216951.2:c.1301+2T>G		p.X434_splice	ENST00000216951	NM_000178.2			0	1	1	UPI0000111B5F	0		ENST00000216951		ENSG00000100983	4624		86			HGNC	-		GSS		SNV			1				ENST00000216951	protein_coding							C		-/1919				B7Z514_HUMAN,B7Z1C5_HUMAN			YES	GSS,splice_donor_variant,,ENST00000216951,NM_000178.2;GSS,splice_donor_variant,,ENST00000541098,;GSS,splice_donor_variant,,ENST00000451957,;ACSS2,downstream_gene_variant,,ENST00000360596,NM_018677.3;ACSS2,downstream_gene_variant,,ENST00000253382,NM_001076552.2;ACSS2,downstream_gene_variant,,ENST00000336325,NM_001242393.1;ACSS2,downstream_gene_variant,,ENST00000476922,;ACSS2,downstream_gene_variant,,ENST00000481284,;ACSS2,downstream_gene_variant,,ENST00000477932,;ACSS2,downstream_gene_variant,,ENST00000494727,;ACSS2,downstream_gene_variant,,ENST00000491533,;ACSS2,downstream_gene_variant,,ENST00000480978,;							HIGH	1301/1425		GSHB_HUMAN			Transcript			.	ENSP00000216951		CCDS13245.1			1	
LPAR3	0	LGGM	GRCh37	1	85331202	85331202	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	44	6	.	.	ENST00000440886.1:c.602T>A	p.Ile201Asn	p.I201N	ENST00000440886		201	aTc/aAc	0	1		UPI000003CAC0	0	getma.org/pdb.php?prot=LPAR3_HUMAN&from=47&to=293&var=I201N	ENST00000370611		ENSG00000171517	14298		50	3		HGNC	p.I201N		LPAR3		SNV							ENST00000440886	protein_coding	getma.org/?cm=var&var=hg19,1,85331202,A,T&fts=all		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		I/N		T	medium	818/1720		getma.org/?cm=msa&ty=f&p=LPAR3_HUMAN&rb=47&re=293&var=I201N	deleterious(0)					LPAR3,missense_variant,p.Ile201Asn,ENST00000440886,;LPAR3,missense_variant,p.Ile201Asn,ENST00000370611,NM_012152.2;LPAR3,non_coding_transcript_exon_variant,,ENST00000491034,;							MODERATE	602/1062	I201N	LPAR3_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000359643		CCDS700.1			1	
C22orf39	0	LGGM	GRCh37	22	19435264	19435264	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	74	6	.	.	ENST00000399562.4:c.59T>G	p.Phe20Cys	p.F20C	ENST00000399562	NM_173793.4	20	tTt/tGt	0	1	1	UPI0000D4CFB9	0	NA	ENST00000399562		ENSG00000242259	27012		80	0.69		HGNC	p.F20C		C22orf39		SNV							ENST00000333059	protein_coding	getma.org/?cm=var&var=hg19,22,19435264,A,C&fts=all				F/C		C	neutral	492/3350		getma.org/?cm=msa&ty=f&p=F5H3A8_HUMAN&rb=1&re=117&var=F20C	tolerated_low_confidence(0.1)				YES	C22orf39,missense_variant,p.Phe20Cys,ENST00000399562,NM_173793.4;C22orf39,missense_variant,p.Phe20Cys,ENST00000542103,NM_001166242.1;HIRA,upstream_gene_variant,,ENST00000541063,;HIRA,upstream_gene_variant,,ENST00000546308,;UFD1L,downstream_gene_variant,,ENST00000263202,NM_005659.6,NM_001035247.2;UFD1L,downstream_gene_variant,,ENST00000360834,;C22orf39,upstream_gene_variant,,ENST00000333059,;UFD1L,downstream_gene_variant,,ENST00000399523,;C22orf39,upstream_gene_variant,,ENST00000399568,;AC000068.5,upstream_gene_variant,,ENST00000431090,;UFD1L,downstream_gene_variant,,ENST00000459854,;UFD1L,downstream_gene_variant,,ENST00000466373,;C22orf39,upstream_gene_variant,,ENST00000509549,;HIRA,upstream_gene_variant,,ENST00000452818,;							MODERATE	59/429	F20C	CV039_HUMAN			Transcript		benign(0.262)	.	ENSP00000382474		CCDS33599.2			1	
PDCD6IP	0	LGGM	GRCh37	3	33886953	33886953	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	78	6	.	.	ENST00000457054.2:c.1529C>T	p.Ala510Val	p.A510V	ENST00000457054	NM_013374.5	510	gCa/gTa	0	1		UPI00000709A6	0	getma.org/pdb.php?prot=PDC6I_HUMAN&from=408&to=702&var=A505V	ENST00000307296		ENSG00000170248	8766		84	2.705		HGNC	p.A505V		PDCD6IP		SNV							ENST00000307296	protein_coding	getma.org/?cm=var&var=hg19,3,33886953,C,T&fts=all		Pfam_domain:PF13949,Gene3D:2xs1A03,hmmpanther:PTHR23030,hmmpanther:PTHR23030:SF19		A/V		T	medium	1891/6161		getma.org/?cm=msa&ty=f&p=PDC6I_HUMAN&rb=408&re=702&var=A505V	deleterious(0)					PDCD6IP,missense_variant,p.Ala505Val,ENST00000307296,;PDCD6IP,missense_variant,p.Ala510Val,ENST00000457054,NM_013374.5,NM_001162429.2;PDCD6IP,non_coding_transcript_exon_variant,,ENST00000465122,;PDCD6IP,downstream_gene_variant,,ENST00000412887,;							MODERATE	1514/2607	A505V	PDC6I_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000307387		CCDS2660.1			1	
MYOF	0	LGGM	GRCh37	10	95085624	95085624	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	76	6	.	.	ENST00000359263.4:c.5230A>G	p.Thr1744Ala	p.T1744A	ENST00000359263	NM_013451.3	1744	Aca/Gca	0	1	1	UPI000012FBA1	0	NA	ENST00000359263		ENSG00000138119	3656		82	2.975		HGNC	p.T1744A		MYOF		SNV							ENST00000371501	protein_coding	getma.org/?cm=var&var=hg19,10,95085624,T,C&fts=all		hmmpanther:PTHR12546,hmmpanther:PTHR12546:SF38,Gene3D:2.60.40.150		T/A		C	medium	5230/6719		getma.org/?cm=msa&ty=f&p=MYOF_HUMAN&rb=1639&re=1789&var=T1744A	deleterious(0.01)				YES	MYOF,missense_variant,p.Thr1744Ala,ENST00000371501,;MYOF,missense_variant,p.Thr1763Ala,ENST00000371502,;MYOF,missense_variant,p.Thr1744Ala,ENST00000359263,NM_013451.3;MYOF,missense_variant,p.Thr1731Ala,ENST00000358334,NM_133337.2;MYOF,non_coding_transcript_exon_variant,,ENST00000485212,;MYOF,missense_variant,p.Thr1138Ala,ENST00000463743,;MYOF,upstream_gene_variant,,ENST00000474161,;							MODERATE	5230/6186	T1744A	MYOF_HUMAN			Transcript		benign(0.125)	.	ENSP00000352208		CCDS41551.1			1	
CHL1	0	LGGM	GRCh37	3	425554	425554	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	84	6	.	.	ENST00000256509.2:c.2232G>T	p.Met744Ile	p.M744I	ENST00000256509	NM_001253388.1	744	atG/atT	0	1		UPI0000E08093	0	getma.org/pdb.php?prot=CHL1_HUMAN&from=713&to=796&var=M728I	ENST00000397491		ENSG00000134121	1939		90	2.22		HGNC	p.M744I		CHL1		SNV			1				ENST00000256509	protein_coding	getma.org/?cm=var&var=hg19,3,425554,G,T&fts=all		Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122,PROSITE_profiles:PS50853		M/I		T	medium	2651/5235		getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=713&re=796&var=M728I	deleterious(0)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN				CHL1,missense_variant,p.Met744Ile,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Met728Ile,ENST00000397491,;CHL1-AS1,intron_variant,,ENST00000417612,;CHL1,non_coding_transcript_exon_variant,,ENST00000470005,;CHL1,non_coding_transcript_exon_variant,,ENST00000470880,;CHL1,3_prime_UTR_variant,,ENST00000453040,;							MODERATE	2184/3627	M728I	CHL1_HUMAN			Transcript		possibly_damaging(0.803)	.	ENSP00000380628		CCDS58812.1			1	
TMEM19	0	LGGM	GRCh37	12	72091109	72091109	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	83	6	.	.	ENST00000266673.5:c.432A>G	p.Thr144=	p.T144=	ENST00000266673	NM_018279.3	144	acA/acG	0	1	1	UPI000006EFAF	0		ENST00000266673		ENSG00000139291	25605		89			HGNC	p.T144T		TMEM19		SNV							ENST00000266673	protein_coding			hmmpanther:PTHR13353:SF5,hmmpanther:PTHR13353,Pfam_domain:PF01940		T		G		1026/4666				F8VS20_HUMAN,F8VRE8_HUMAN			YES	TMEM19,synonymous_variant,p.=,ENST00000266673,NM_018279.3;TMEM19,synonymous_variant,p.=,ENST00000549735,;TMEM19,synonymous_variant,p.=,ENST00000550524,;TMEM19,synonymous_variant,p.=,ENST00000546677,;TMEM19,upstream_gene_variant,,ENST00000550787,;TMEM19,upstream_gene_variant,,ENST00000546795,;RP11-293I14.2,3_prime_UTR_variant,,ENST00000548802,;							LOW	432/1011		TMM19_HUMAN			Transcript			.	ENSP00000266673		CCDS9002.1			1	
ITSN2	0	LGGM	GRCh37	2	24432895	24432895	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	79	6	.	.	ENST00000355123.4:c.4265T>C	p.Ile1422Thr	p.I1422T	ENST00000355123	NM_006277.2	1422	aTt/aCt	0	1	1	UPI000013D415	0	getma.org/pdb.php?prot=ITSN2_HUMAN&from=1395&to=1570&var=I1422T	ENST00000355123		ENSG00000198399	6184		85	1.87		HGNC	p.I1422T		ITSN2		SNV							ENST00000355123	protein_coding	getma.org/?cm=var&var=hg19,2,24432895,A,G&fts=all		Gene3D:2.30.29.30,Superfamily_domains:SSF50729		I/T		G	low	4709/6300		getma.org/?cm=msa&ty=f&p=ITSN2_HUMAN&rb=1395&re=1570&var=I1422T	tolerated(0.07)	Q53TM3_HUMAN,Q53TK4_HUMAN,F8W719_HUMAN			YES	ITSN2,missense_variant,p.Ile1422Thr,ENST00000355123,NM_006277.2;ITSN2,missense_variant,p.Ile1395Thr,ENST00000361999,NM_019595.3;AC009228.1,upstream_gene_variant,,ENST00000430105,;AC009228.1,upstream_gene_variant,,ENST00000413254,;AC009228.1,upstream_gene_variant,,ENST00000413989,;ITSN2,non_coding_transcript_exon_variant,,ENST00000479575,;ITSN2,upstream_gene_variant,,ENST00000478720,;ITSN2,upstream_gene_variant,,ENST00000427234,;ITSN2,upstream_gene_variant,,ENST00000449392,;							MODERATE	4265/5094	I1422T	ITSN2_HUMAN			Transcript		unknown(0)	.	ENSP00000347244		CCDS1710.2			1	
STK31	0	LGGM	GRCh37	7	23811885	23811885	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	91	6	.	.	ENST00000355870.3:c.1953T>C	p.Ser651=	p.S651=	ENST00000355870	NM_031414.4	651	agT/agC	0	1	1	UPI0000167B73	0		ENST00000355870		ENSG00000196335	11407		97			HGNC	p.S651S		STK31		SNV							ENST00000433467	protein_coding			hmmpanther:PTHR12302,hmmpanther:PTHR12302:SF0		S		C		2072/3326				Q75MZ9_HUMAN,F8W6E7_HUMAN,E9PRQ0_HUMAN,C9JQW5_HUMAN,B3KY91_HUMAN			YES	STK31,synonymous_variant,p.=,ENST00000354639,NM_032944.3,NM_001260504.1;STK31,synonymous_variant,p.=,ENST00000428484,;STK31,synonymous_variant,p.=,ENST00000355870,NM_031414.4;STK31,synonymous_variant,p.=,ENST00000433467,NM_001260505.1;STK31,non_coding_transcript_exon_variant,,ENST00000405627,;STK31,non_coding_transcript_exon_variant,,ENST00000478321,;STK31,non_coding_transcript_exon_variant,,ENST00000476399,;							LOW	1953/3060		STK31_HUMAN			Transcript			.	ENSP00000348132		CCDS5386.1			1	
PEX3	0	LGGM	GRCh37	6	143800300	143800300	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	60	6	.	.	ENST00000367591.4:c.906T>G	p.Thr302=	p.T302=	ENST00000367591	NM_003630.2	302	acT/acG	0	1	1	UPI00001316E1	0		ENST00000367591		ENSG00000034693	8858		66			HGNC	p.T302T		PEX3		SNV			1				ENST00000367591	protein_coding			Pfam_domain:PF04882		T		G		969/1969							YES	PEX3,synonymous_variant,p.=,ENST00000367591,NM_003630.2;							LOW	906/1122		PEX3_HUMAN			Transcript			.	ENSP00000356563		CCDS5199.1			1	
CUL7	0	LGGM	GRCh37	6	43017218	43017218	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	98	7	.	.	ENST00000535468.1:c.2004A>C	p.Glu668Asp	p.E668D	ENST00000535468	NM_014780.4	668	gaA/gaC	0	1		UPI000013D603	0	NA	ENST00000265348		ENSG00000044090	21024		105	-0.345		HGNC	p.E668D		CUL7		SNV			1				ENST00000535468	protein_coding	getma.org/?cm=var&var=hg19,6,43017218,T,G&fts=all		hmmpanther:PTHR22771,hmmpanther:PTHR22771:SF3		E/D		G	neutral	1838/5254		getma.org/?cm=msa&ty=f&p=CUL7_HUMAN&rb=436&re=635&var=E584D	tolerated(0.32)					CUL7,missense_variant,p.Glu668Asp,ENST00000535468,NM_014780.4,NM_001168370.1;CUL7,missense_variant,p.Glu584Asp,ENST00000265348,;MRPL2,downstream_gene_variant,,ENST00000388752,NM_015950.3;MRPL2,downstream_gene_variant,,ENST00000230413,;MRPL2,downstream_gene_variant,,ENST00000489623,;CUL7,upstream_gene_variant,,ENST00000478630,;KLC4,intron_variant,,ENST00000467906,;MRPL2,downstream_gene_variant,,ENST00000485654,;							MODERATE	1752/5097	E584D	CUL7_HUMAN			Transcript		benign(0.002)	.	ENSP00000265348		CCDS4881.1			1	
MARK3	0	LGGM	GRCh37	14	103933459	103933459	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	68	7	.	.	ENST00000429436.2:c.1041A>T	p.Glu347Asp	p.E347D	ENST00000429436	NM_001128918.1	347	gaA/gaT	0	1	1	UPI00004567CC	0	getma.org/pdb.php?prot=MARK3_HUMAN&from=326&to=365&var=E347D	ENST00000429436		ENSG00000075413	6897		75	-0.3		HGNC	p.E347D		MARK3		SNV							ENST00000429436	protein_coding	getma.org/?cm=var&var=hg19,14,103933459,A,T&fts=all		SMART_domains:SM00165,Gene3D:1.10.8.10,hmmpanther:PTHR24346,hmmpanther:PTHR24346:SF1,PROSITE_profiles:PS50030		E/D		T	neutral	1551/3371		getma.org/?cm=msa&ty=f&p=MARK3_HUMAN&rb=326&re=365&var=E347D	tolerated(1)	Q86U11_HUMAN			YES	MARK3,missense_variant,p.Glu347Asp,ENST00000429436,NM_001128918.1,NM_001128919.1;MARK3,missense_variant,p.Glu347Asp,ENST00000303622,NM_001128920.1,NM_002376.5;MARK3,missense_variant,p.Glu370Asp,ENST00000416682,;MARK3,missense_variant,p.Glu347Asp,ENST00000216288,;MARK3,missense_variant,p.Glu268Asp,ENST00000440884,NM_001128921.1;MARK3,missense_variant,p.Glu370Asp,ENST00000335102,;MARK3,missense_variant,p.Glu347Asp,ENST00000553942,;MARK3,missense_variant,p.Glu115Asp,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,;							MODERATE	1041/2262	E347D	MARK3_HUMAN			Transcript		benign(0)	.	ENSP00000411397		CCDS45165.1			1	
EPDR1	0	LGGM	GRCh37	7	37988448	37988448	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	76	7	.	.	ENST00000199448.4:c.276T>G	p.Phe92Leu	p.F92L	ENST00000199448	NM_017549.4	92	ttT/ttG	0	1	1	UPI000012EF12	0	NA	ENST00000199448		ENSG00000086289	17572		83	2.125		HGNC	p.F92L		EPDR1		SNV							ENST00000199448	protein_coding	getma.org/?cm=var&var=hg19,7,37988448,T,G&fts=all		hmmpanther:PTHR10697:SF1,hmmpanther:PTHR10697,Pfam_domain:PF00811,SMART_domains:SM00026		F/L		G	medium	655/2599		getma.org/?cm=msa&ty=f&p=EPDR1_HUMAN&rb=79&re=210&var=F92L	tolerated(0.12)	D6RIH7_HUMAN			YES	EPDR1,missense_variant,p.Phe92Leu,ENST00000199448,NM_017549.4;EPDR1,missense_variant,p.Phe212Leu,ENST00000559325,;EPDR1,missense_variant,p.Phe31Leu,ENST00000425345,NM_001242948.1;EPDR1,5_prime_UTR_variant,,ENST00000476620,;SFRP4,intron_variant,,ENST00000447200,;EPDR1,intron_variant,,ENST00000423717,NM_001242946.1;							MODERATE	276/675	F92L	EPDR1_HUMAN			Transcript		benign(0.349)	.	ENSP00000199448		CCDS5454.2			1	
C10orf118	0	LGGM	GRCh37	10	115895679	115895679	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	43	7	.	.	ENST00000369287.3:c.1483A>G	p.Met495Val	p.M495V	ENST00000369287	NM_018017.2	495	Atg/Gtg	0	1	1	UPI00001D3EF5	0	NA	ENST00000369287		ENSG00000165813	24349		50	1.79		HGNC	p.M93V	rs780505415	C10orf118		SNV							ENST00000543782	protein_coding	getma.org/?cm=var&var=hg19,10,115895679,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18911		M/V		C	low	1750/7245		getma.org/?cm=msa&ty=f&p=CJ118_HUMAN&rb=207&re=896&var=M495V	deleterious(0.04)	Q496Y1_HUMAN			YES	C10orf118,missense_variant,p.Met495Val,ENST00000369287,NM_018017.2;C10orf118,missense_variant,p.Met93Val,ENST00000543782,;C10orf118,missense_variant,p.Met124Val,ENST00000428953,;C10orf118,upstream_gene_variant,,ENST00000497592,;C10orf118,upstream_gene_variant,,ENST00000490661,;	0.000697						MODERATE	1483/2697	M495V	CJ118_HUMAN			Transcript		benign(0.381)	common_variant	ENSP00000358293	4.94E-05	CCDS7587.1			1	
LAMB2	0	LGGM	GRCh37	3	49169111	49169111	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	63	7	.	.	ENST00000418109.1:c.505G>C	p.Gly169Arg	p.G169R	ENST00000418109	NM_002292.3	169	Ggc/Cgc	0	1		UPI000013EA62	0	getma.org/pdb.php?prot=LAMB2_HUMAN&from=47&to=281&var=G169R	ENST00000305544		ENSG00000172037	6487		70	3.92		HGNC	p.G169R		LAMB2		SNV			1				ENST00000418109	protein_coding	getma.org/?cm=var&var=hg19,3,49169111,C,G&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF36,SMART_domains:SM00136		G/R		G	high	658/5643		getma.org/?cm=msa&ty=f&p=LAMB2_HUMAN&rb=47&re=281&var=G169R	deleterious(0)	F5H520_HUMAN				LAMB2,missense_variant,p.Gly169Arg,ENST00000418109,NM_002292.3;LAMB2,missense_variant,p.Gly169Arg,ENST00000305544,;LAMB2,missense_variant,p.Gly20Arg,ENST00000494831,;LAMB2,upstream_gene_variant,,ENST00000486298,;LAMB2,upstream_gene_variant,,ENST00000483321,;LAMB2,upstream_gene_variant,,ENST00000488638,;							MODERATE	505/5397	G169R	LAMB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000307156		CCDS2789.1			1	
EPDR1	0	LGGM	GRCh37	7	37988465	37988465	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	86	7	.	.	ENST00000199448.4:c.293A>G	p.Tyr98Cys	p.Y98C	ENST00000199448	NM_017549.4	98	tAt/tGt	0	1	1	UPI000012EF12	0	NA	ENST00000199448		ENSG00000086289	17572		93	2.045		HGNC	p.Y98C		EPDR1		SNV							ENST00000199448	protein_coding	getma.org/?cm=var&var=hg19,7,37988465,A,G&fts=all		hmmpanther:PTHR10697:SF1,hmmpanther:PTHR10697,Pfam_domain:PF00811,SMART_domains:SM00026,Prints_domain:PR00317		Y/C		G	medium	672/2599		getma.org/?cm=msa&ty=f&p=EPDR1_HUMAN&rb=79&re=210&var=Y98C	deleterious(0)	D6RIH7_HUMAN			YES	EPDR1,missense_variant,p.Tyr98Cys,ENST00000199448,NM_017549.4;EPDR1,missense_variant,p.Tyr218Cys,ENST00000559325,;EPDR1,missense_variant,p.Tyr37Cys,ENST00000425345,NM_001242948.1;EPDR1,5_prime_UTR_variant,,ENST00000476620,;SFRP4,intron_variant,,ENST00000447200,;EPDR1,intron_variant,,ENST00000423717,NM_001242946.1;							MODERATE	293/675	Y98C	EPDR1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000199448		CCDS5454.2			1	
SLC35B2	0	LGGM	GRCh37	6	44224077	44224077	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	95	8	.	.	ENST00000393812.3:c.360+2T>C		p.X120_splice	ENST00000393812	NM_178148.2			0	1	1	UPI00000705AE	0		ENST00000393812		ENSG00000157593	16872		103			HGNC	-		SLC35B2		SNV							ENST00000393812	protein_coding							G		-/2043				B4DDM2_HUMAN,B3KVY9_HUMAN			YES	SLC35B2,splice_donor_variant,,ENST00000393812,NM_178148.2,NM_001286520.1,NM_001286512.1,NM_001286510.1,NM_001286509.1,NM_001286511.1,NM_001286517.1;SLC35B2,intron_variant,,ENST00000393810,;SLC35B2,intron_variant,,ENST00000538577,NM_001286513.1;SLC35B2,intron_variant,,ENST00000537814,;HSP90AB1,downstream_gene_variant,,ENST00000371554,;HSP90AB1,downstream_gene_variant,,ENST00000353801,NM_001271969.1;HSP90AB1,downstream_gene_variant,,ENST00000371646,NM_007355.3,NM_001271971.1,NM_001271972.1,NM_001271970.1;NFKBIE,downstream_gene_variant,,ENST00000275015,NM_004556.2;NFKBIE,downstream_gene_variant,,ENST00000443607,;MIR4647,upstream_gene_variant,,ENST00000583964,;SLC35B2,splice_donor_variant,,ENST00000495706,;NFKBIE,downstream_gene_variant,,ENST00000477930,;							HIGH	360/1299		S35B2_HUMAN			Transcript			.	ENSP00000377401		CCDS34462.1			1	
NOP16	0	LGGM	GRCh37	5	175811212	175811212	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	62	8	.	.	ENST00000510123.1:c.466C>T	p.Pro156Ser	p.P156S	ENST00000510123	NM_001256539.1	156	Ccc/Tcc	0	1	1	UPI0001D3BACE	0		ENST00000510123		ENSG00000048162	26934		70			HGNC	p.P156S		NOP16		SNV							ENST00000510123	protein_coding					P/S		A		689/952			deleterious_low_confidence(0.01)				YES	NOP16,missense_variant,p.Pro156Ser,ENST00000510123,NM_001256539.1,NM_001256540.1,NM_016391.5;NOP16,synonymous_variant,p.=,ENST00000507413,;NOP16,3_prime_UTR_variant,,ENST00000389158,;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;NOP16,3_prime_UTR_variant,,ENST00000502663,;NOP16,downstream_gene_variant,,ENST00000510608,;NOP16,downstream_gene_variant,,ENST00000503849,;NOP16,downstream_gene_variant,,ENST00000504821,;NOP16,downstream_gene_variant,,ENST00000502577,;							MODERATE	466/711		NOP16_HUMAN			Transcript		benign(0.004)	.	ENSP00000421302		CCDS58991.1			1	
CDC42BPA	0	LGGM	GRCh37	1	227203869	227203869	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	107	8	.	.	ENST00000366769.3:c.4664A>T	p.Asn1555Ile	p.N1555I	ENST00000366769	NM_003607.3	1555	aAt/aTt	0	1		UPI00017BE78A	0	NA	ENST00000334218		ENSG00000143776	1737		115	1.39		HGNC	p.N1568I		CDC42BPA		SNV							ENST00000366765	protein_coding	getma.org/?cm=var&var=hg19,1,227203869,T,A&fts=all		hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF31		N/I		A	low	5607/10691		getma.org/?cm=msa&ty=f&p=MRCKA_HUMAN&rb=1497&re=1696&var=N1568I	deleterious(0.01)	Q9NYF6_HUMAN				CDC42BPA,missense_variant,p.Asn1555Ile,ENST00000366769,NM_003607.3;CDC42BPA,missense_variant,p.Asn1555Ile,ENST00000334218,;CDC42BPA,missense_variant,p.Asn1590Ile,ENST00000366766,;CDC42BPA,missense_variant,p.Asn1527Ile,ENST00000366764,;CDC42BPA,missense_variant,p.Asn1474Ile,ENST00000366767,NM_014826.4;CDC42BPA,missense_variant,p.Asn758Ile,ENST00000448940,;CDC42BPA,missense_variant,p.Asn1568Ile,ENST00000366765,;CDC42BPA,missense_variant,p.Asn1535Ile,ENST00000535525,;CDC42BPA,missense_variant,p.Asn884Ile,ENST00000442054,;CDC42BPA,missense_variant,p.Asn453Ile,ENST00000429440,;							MODERATE	4664/5346	N1568I	MRCKA_HUMAN			Transcript		benign(0.361)	.	ENSP00000335341					1	
MORC4	0	LGGM	GRCh37	X	106229413	106229413	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	66	8	.	.	ENST00000355610.4:c.326A>T	p.Lys109Ile	p.K109I	ENST00000355610	NM_001085354.2	109	aAa/aTa	0	1	1	UPI00003E75D3	0	NA	ENST00000355610		ENSG00000133131	23485		74	3.135		HGNC	p.K109I		MORC4		SNV							ENST00000255495	protein_coding	getma.org/?cm=var&var=hg19,X,106229413,T,A&fts=all		Gene3D:3.30.565.10,Pfam_domain:PF13589,hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1,Superfamily_domains:SSF55874		K/I		A	medium	601/3834		getma.org/?cm=msa&ty=f&p=MORC4_HUMAN&rb=48&re=179&var=K109I	deleterious(0)				YES	MORC4,missense_variant,p.Lys109Ile,ENST00000355610,NM_001085354.2,NM_024657.4;MORC4,missense_variant,p.Lys109Ile,ENST00000255495,;MORC4,intron_variant,,ENST00000535534,;MORC4,intron_variant,,ENST00000604604,;							MODERATE	326/2814	K109I	MORC4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000347821		CCDS14525.2			1	
CRNKL1	0	LGGM	GRCh37	20	20020438	20020438	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	97	8	.	.	ENST00000377340.2:c.1843T>C	p.Leu615=	p.L615=	ENST00000377340	NM_016652.5	615	Ttg/Ctg	0	1	1	UPI00004A39A7	0		ENST00000377340		ENSG00000101343	15762		105			HGNC	p.L615L		CRNKL1		SNV							ENST00000377340	protein_coding			Gene3D:1.25.40.10,PROSITE_profiles:PS50293,hmmpanther:PTHR11246,hmmpanther:PTHR11246:SF3,SMART_domains:SM00386,Superfamily_domains:SSF48452		L		G		1875/4406							YES	CRNKL1,synonymous_variant,p.=,ENST00000377340,NM_016652.5;CRNKL1,synonymous_variant,p.=,ENST00000377327,NM_001278626.1,NM_001278625.1,NM_001278627.1;CRNKL1,synonymous_variant,p.=,ENST00000536226,NM_001278628.1;CRNKL1,upstream_gene_variant,,ENST00000521379,;CRNKL1,3_prime_UTR_variant,,ENST00000490910,;CRNKL1,3_prime_UTR_variant,,ENST00000496549,;CRNKL1,upstream_gene_variant,,ENST00000490258,;							LOW	1843/2547		CRNL1_HUMAN			Transcript			.	ENSP00000366557		CCDS33446.1			1	
SLC35B2	0	LGGM	GRCh37	6	44224083	44224083	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	99	9	.	.	ENST00000393812.3:c.356T>C	p.Leu119Pro	p.L119P	ENST00000393812	NM_178148.2	119	cTc/cCc	0	1	1	UPI00000705AE	0	NA	ENST00000393812		ENSG00000157593	16872		108	3.1		HGNC	p.L119P		SLC35B2		SNV							ENST00000393812	protein_coding	getma.org/?cm=var&var=hg19,6,44224083,A,G&fts=all		hmmpanther:PTHR10778,hmmpanther:PTHR10778:SF13,Pfam_domain:PF08449		L/P		G	medium	500/2043		getma.org/?cm=msa&ty=f&p=S35B2_HUMAN&rb=112&re=416&var=L119P	deleterious(0)	B4DDM2_HUMAN,B3KVY9_HUMAN			YES	SLC35B2,missense_variant,p.Leu119Pro,ENST00000393812,NM_178148.2,NM_001286520.1,NM_001286512.1,NM_001286510.1,NM_001286509.1,NM_001286511.1,NM_001286517.1;SLC35B2,intron_variant,,ENST00000393810,;SLC35B2,intron_variant,,ENST00000538577,NM_001286513.1;SLC35B2,intron_variant,,ENST00000537814,;HSP90AB1,downstream_gene_variant,,ENST00000371554,;HSP90AB1,downstream_gene_variant,,ENST00000353801,NM_001271969.1;HSP90AB1,downstream_gene_variant,,ENST00000371646,NM_007355.3,NM_001271971.1,NM_001271972.1,NM_001271970.1;NFKBIE,downstream_gene_variant,,ENST00000275015,NM_004556.2;NFKBIE,downstream_gene_variant,,ENST00000443607,;MIR4647,upstream_gene_variant,,ENST00000583964,;SLC35B2,non_coding_transcript_exon_variant,,ENST00000495706,;NFKBIE,downstream_gene_variant,,ENST00000477930,;							MODERATE	356/1299	L119P	S35B2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000377401		CCDS34462.1			1	
CCPG1	0	LGGM	GRCh37	15	55657447	55657447	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	125	9	.	.	ENST00000442196.3:c.767A>C	p.Asn256Thr	p.N256T	ENST00000442196		256	aAt/aCt	0	1		UPI000013F0C7	0	NA	ENST00000310958		ENSG00000260916	24227		134	2.14		HGNC	p.N256T		CCPG1		SNV							ENST00000442196	protein_coding	getma.org/?cm=var&var=hg19,15,55657447,T,G&fts=all		Coiled-coils_(Ncoils):Coil		N/T		G	medium	1066/6822		getma.org/?cm=msa&ty=f&p=CCPG1_HUMAN&rb=1&re=315&var=N256T	tolerated(0.12)	H3BTZ1_HUMAN,H3BR24_HUMAN				CCPG1,missense_variant,p.Asn256Thr,ENST00000310958,NM_001204451.1,NM_001204450.1,NM_020739.3,NM_004748.4;CCPG1,missense_variant,p.Asn256Thr,ENST00000442196,;CCPG1,missense_variant,p.Asn256Thr,ENST00000569205,;CCPG1,missense_variant,p.Asn256Thr,ENST00000425574,;CCPG1,missense_variant,p.Asn10Thr,ENST00000568543,;DYX1C1-CCPG1,non_coding_transcript_exon_variant,,ENST00000565113,;CCPG1,non_coding_transcript_exon_variant,,ENST00000568372,;CCPG1,intron_variant,,ENST00000568808,;							MODERATE	767/2274	N256T	CCPG1_HUMAN			Transcript		benign(0.341)	.	ENSP00000311656		CCDS42039.1			1	
TNR	0	LGGM	GRCh37	1	175372691	175372691	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	87	9	.	.	ENST00000367674.2:c.561C>T	p.Gly187=	p.G187=	ENST00000367674		187	ggC/ggT	0	1		UPI000013D41C	0		ENST00000263525		ENSG00000116147	11953		96			HGNC	p.G187G		TNR		SNV							ENST00000367674	protein_coding			hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF39		G		A		1116/5190				A1L306_HUMAN				TNR,synonymous_variant,p.=,ENST00000367674,;TNR,synonymous_variant,p.=,ENST00000263525,NM_003285.2;TNR,intron_variant,,ENST00000422274,;							LOW	561/4077		TENR_HUMAN			Transcript			.	ENSP00000263525		CCDS1318.1			1	
HIVEP1	0	LGGM	GRCh37	6	12123848	12123848	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	141	9	.	.	ENST00000379388.2:c.3820A>T	p.Thr1274Ser	p.T1274S	ENST00000379388	NM_002114.2	1274	Aca/Tca	0	1	1	UPI000020D52B	0	NA	ENST00000379388		ENSG00000095951	4920		150	2.43		HGNC	p.T1274S		HIVEP1		SNV							ENST00000379388	protein_coding	getma.org/?cm=var&var=hg19,6,12123848,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23233:SF48,hmmpanther:PTHR23233		T/S		T	medium	4152/9027		getma.org/?cm=msa&ty=f&p=ZEP1_HUMAN&rb=513&re=2064&var=T1274S	deleterious(0.01)	C9JZF8_HUMAN,C9JAW2_HUMAN,C9J2N3_HUMAN			YES	HIVEP1,missense_variant,p.Thr1274Ser,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,;							MODERATE	3820/8157	T1274S	ZEP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368698		CCDS43426.1			1	
MTUS2	0	LGGM	GRCh37	13	29598852	29598852	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	169	10	.	.	ENST00000431530.3:c.47C>T	p.Ala16Val	p.A16V	ENST00000431530	NM_001033602.2	16	gCt/gTt	0	1	1	UPI0000F734AC	0	NA	ENST00000431530		ENSG00000132938	20595		179	1.445		HGNC	p.A16V		MTUS2		SNV							ENST00000431530	protein_coding	getma.org/?cm=var&var=hg19,13,29598852,C,T&fts=all		hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		A/V		T	low	105/4747		getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=A6V	tolerated(0.6)	J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,missense_variant,p.Ala16Val,ENST00000431530,NM_001033602.2;							MODERATE	47/4140	A6V				Transcript		benign(0.041)	.	ENSP00000392057		CCDS45022.1			1	
SLITRK5	0	LGGM	GRCh37	13	88327802	88327802	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	111	10	.	.	ENST00000325089.6:c.159T>C	p.Pro53=	p.P53=	ENST00000325089	NM_015567.1	53	ccT/ccC	0	1	1	UPI000015F6F7	0		ENST00000325089		ENSG00000165300	20295		121			HGNC	p.P53P		SLITRK5		SNV							ENST00000325089	protein_coding			hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF10		P		C		378/4447							YES	SLITRK5,synonymous_variant,p.=,ENST00000325089,NM_015567.1;SLITRK5,intron_variant,,ENST00000400028,;MIR4500HG,upstream_gene_variant,,ENST00000436290,;MIR4500HG,upstream_gene_variant,,ENST00000441617,;MIR4500HG,upstream_gene_variant,,ENST00000453832,;MIR4500HG,upstream_gene_variant,,ENST00000606590,;							LOW	159/2877		SLIK5_HUMAN			Transcript			.	ENSP00000366283		CCDS9465.1			1	
ARHGAP9	0	LGGM	GRCh37	12	57868464	57868464	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	149	10	.	.	ENST00000393791.3:c.1674T>C	p.Tyr558=	p.Y558=	ENST00000393791	NM_032496.2	558	taT/taC	0	1	1	UPI000007131B	0		ENST00000393791		ENSG00000123329	14130		159			HGNC	p.Y577Y		ARHGAP9		SNV							ENST00000356411	protein_coding			PROSITE_profiles:PS50238,hmmpanther:PTHR23181,hmmpanther:PTHR23181:SF4,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		Y		G		1813/2597				F8VW89_HUMAN,F8VSD0_HUMAN,F8VR90_HUMAN,F8VQY5_HUMAN			YES	ARHGAP9,synonymous_variant,p.=,ENST00000393797,;ARHGAP9,synonymous_variant,p.=,ENST00000550288,;ARHGAP9,synonymous_variant,p.=,ENST00000356411,;ARHGAP9,synonymous_variant,p.=,ENST00000393791,NM_032496.2;ARHGAP9,synonymous_variant,p.=,ENST00000424809,NM_001080157.1;ARHGAP9,synonymous_variant,p.=,ENST00000430041,NM_001080156.1;ARHGAP9,synonymous_variant,p.=,ENST00000550399,;ARHGAP9,synonymous_variant,p.=,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,non_coding_transcript_exon_variant,,ENST00000546200,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000552953,;ARHGAP9,non_coding_transcript_exon_variant,,ENST00000550440,;ARHGAP9,non_coding_transcript_exon_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,;							LOW	1674/2196		RHG09_HUMAN			Transcript			.	ENSP00000377380		CCDS8941.2			1	
OR4A15	0	LGGM	GRCh37	11	55136114	55136114	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	103	10	.	.	ENST00000314706.3:c.755C>T	p.Ser252Phe	p.S252F	ENST00000314706	NM_001005275.1	252	tCt/tTt	0	1	1	UPI000004618F	0	NA	ENST00000314706		ENSG00000181958	15152		113	2.595		HGNC	p.S252F		OR4A15		SNV							ENST00000314706	protein_coding	getma.org/?cm=var&var=hg19,11,55136114,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Superfamily_domains:SSF81321		S/F		T	medium	755/1035		getma.org/?cm=msa&ty=f&p=O4A15_HUMAN&rb=167&re=308&var=S252F	deleterious_low_confidence(0.01)				YES	OR4A15,missense_variant,p.Ser252Phe,ENST00000314706,NM_001005275.1;							MODERATE	755/1035	S252F	O4A15_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000325065		CCDS31500.1			1	
FBN2	0	LGGM	GRCh37	5	127607711	127607711	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	107	10	.	.	ENST00000508053.1:c.7940A>G	p.Tyr2647Cys	p.Y2647C	ENST00000508053		2647	tAc/tGc	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=2614&to=2652&var=Y2647C	ENST00000262464		ENSG00000138829	3604		117	1.2		HGNC	p.Y2647C		FBN2		SNV			1				ENST00000262464	protein_coding	getma.org/?cm=var&var=hg19,5,127607711,T,C&fts=all		Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		Y/C		C	low	8379/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=2614&re=2652&var=Y2647C	tolerated(0.1)					FBN2,missense_variant,p.Tyr2647Cys,ENST00000508053,;FBN2,missense_variant,p.Tyr2647Cys,ENST00000262464,NM_001999.3;							MODERATE	7940/8739	Y2647C	FBN2_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000262464		CCDS34222.1			1	
CLEC4F	0	LGGM	GRCh37	2	71039657	71039657	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	97	10	.	.	ENST00000272367.2:c.1461G>A	p.Lys487=	p.K487=	ENST00000272367	NM_001258027.1	487	aaG/aaA	0	1	1	UPI0000376BCC	0		ENST00000272367		ENSG00000152672	25357		107			HGNC	p.K487K		CLEC4F		SNV							ENST00000426626	protein_coding			Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF195,SMART_domains:SM00034,Superfamily_domains:SSF56436		K		T		1538/2475							YES	CLEC4F,synonymous_variant,p.=,ENST00000272367,NM_001258027.1,NM_173535.2;CLEC4F,synonymous_variant,p.=,ENST00000426626,;AC007395.4,upstream_gene_variant,,ENST00000451333,;							LOW	1461/1770		CLC4F_HUMAN			Transcript			.	ENSP00000272367		CCDS1910.1			1	
KARS	0	LGGM	GRCh37	16	75663419	75663419	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	209	11	.	.	ENST00000319410.5:c.1529T>A	p.Leu510Gln	p.L510Q	ENST00000319410	NM_001130089.1	510	cTg/cAg	0	1		UPI000004062F	0	getma.org/pdb.php?prot=SYK_HUMAN&from=222&to=575&var=L482Q	ENST00000302445		ENSG00000065427	6215		220	3.73		HGNC	p.L510Q		KARS		SNV			1				ENST00000319410	protein_coding	getma.org/?cm=var&var=hg19,16,75663419,A,T&fts=all		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		L/Q		T	high	1485/2005		getma.org/?cm=msa&ty=f&p=SYK_HUMAN&rb=222&re=575&var=L482Q	deleterious(0)	J3KRL2_HUMAN				KARS,missense_variant,p.Leu510Gln,ENST00000319410,NM_001130089.1;KARS,missense_variant,p.Leu482Gln,ENST00000302445,NM_005548.2;KARS,intron_variant,,ENST00000568378,;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,;							MODERATE	1445/1794	L482Q	SYK_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000303043		CCDS10923.1			1	
ZNF91	0	LGGM	GRCh37	19	23542909	23542909	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	151	11	.	.	ENST00000300619.7:c.2872A>G	p.Ile958Val	p.I958V	ENST00000300619	NM_003430.2	958	Ata/Gta	0	1	1	UPI00002038F9	0	getma.org/pdb.php?prot=ZNF91_HUMAN&from=952&to=977&var=I958V	ENST00000300619		ENSG00000167232	13166		162	0.87		HGNC	p.I958V	rs758107107	ZNF91		SNV							ENST00000300619	protein_coding	getma.org/?cm=var&var=hg19,19,23542909,T,C&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF100,PROSITE_profiles:PS50157		I/V		C	low	3078/5489	1.52E-05	getma.org/?cm=msa&ty=f&p=ZNF91_HUMAN&rb=932&re=997&var=I958V	tolerated(0.09)	M0R186_HUMAN			YES	ZNF91,missense_variant,p.Ile958Val,ENST00000300619,NM_003430.2;ZNF91,missense_variant,p.Ile926Val,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,;							MODERATE	2872/3576	I958V	ZNF91_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000300619	8.25E-06	CCDS42541.1			1	
VPS13D	0	LGGM	GRCh37	1	12422858	12422858	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	182	11	.	.	ENST00000358136.3:c.10224A>G	p.Lys3408=	p.K3408=	ENST00000358136	NM_015378.2	3408	aaA/aaG	0	1	1	UPI0000451CA9	0		ENST00000358136		ENSG00000048707	23595	8.64E-05	193			HGNC	p.K3383K	rs527391297	VPS13D		SNV							ENST00000356315	protein_coding		G:0	hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF06650		K		G		10354/16318				M0QXS2_HUMAN,J3KP14_HUMAN	G:0.0014	G:0	YES	VPS13D,synonymous_variant,p.=,ENST00000358136,NM_015378.2;VPS13D,synonymous_variant,p.=,ENST00000356315,NM_018156.2;VPS13D,synonymous_variant,p.=,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;VPS13D,upstream_gene_variant,,ENST00000496628,;		G:0.0002					LOW	10224/13167				G:0	Transcript			.	ENSP00000350854	8.24E-06	CCDS30588.1		G:0	1	
ARHGEF12	0	LGGM	GRCh37	11	120319004	120319004	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	155	11	.	.	ENST00000397843.2:c.1684C>G	p.Pro562Ala	p.P562A	ENST00000397843	NM_015313.2	562	Cct/Gct	0	1	1	UPI00000708ED	0	NA	ENST00000397843		ENSG00000196914	14193		166	1.245		HGNC	p.P459A		ARHGEF12		SNV							ENST00000532993	protein_coding	getma.org/?cm=var&var=hg19,11,120319004,C,G&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8		P/A		G	low	1850/9660		getma.org/?cm=msa&ty=f&p=ARHGC_HUMAN&rb=559&re=758&var=P562A	tolerated(0.09)	E9PMR6_HUMAN			YES	ARHGEF12,missense_variant,p.Pro562Ala,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Pro543Ala,ENST00000356641,NM_001198665.1;ARHGEF12,missense_variant,p.Pro459Ala,ENST00000532993,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000529970,;ARHGEF12,non_coding_transcript_exon_variant,,ENST00000528225,;ARHGEF12,upstream_gene_variant,,ENST00000525222,;ARHGEF12,upstream_gene_variant,,ENST00000532823,;ARHGEF12,downstream_gene_variant,,ENST00000525960,;							MODERATE	1684/4635	P562A	ARHGC_HUMAN			Transcript		benign(0.019)	.	ENSP00000380942		CCDS41727.1			1	
CD1C	0	LGGM	GRCh37	1	158263059	158263059	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	143	12	.	.	ENST00000368170.3:c.947T>C	p.Leu316Pro	p.L316P	ENST00000368170	NM_001765.2	316	cTa/cCa	0	1	1	UPI000013DF78	0	NA	ENST00000368170		ENSG00000158481	1636		155	2.785		HGNC	p.L316P		CD1C		SNV							ENST00000368170	protein_coding	getma.org/?cm=var&var=hg19,1,158263059,T,C&fts=all		hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF155,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L/P		C	medium	1226/1435		getma.org/?cm=msa&ty=f&p=CD1C_HUMAN&rb=293&re=333&var=L316P	deleterious(0.01)	B4DP91_HUMAN			YES	CD1C,missense_variant,p.Leu316Pro,ENST00000368170,NM_001765.2;CD1C,intron_variant,,ENST00000443761,;							MODERATE	947/1002	L316P	CD1C_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000357152		CCDS1175.1			1	
LARP4	0	LGGM	GRCh37	12	50855004	50855004	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	81	12	.	.	ENST00000398473.2:c.1208A>G	p.Tyr403Cys	p.Y403C	ENST00000398473	NM_199188.2	403	tAt/tGt	0	1	1	UPI00002293C3	0	NA	ENST00000398473		ENSG00000161813	24320		93	0		HGNC	p.Y402C		LARP4		SNV							ENST00000518444	protein_coding	getma.org/?cm=var&var=hg19,12,50855004,A,G&fts=all		hmmpanther:PTHR22792:SF48,hmmpanther:PTHR22792		Y/C		G	neutral	1320/6427		getma.org/?cm=msa&ty=f&p=LARP4_HUMAN&rb=381&re=580&var=Y403C	tolerated(0.19)	Q96J85_HUMAN,F8W1I4_HUMAN,F8VZ60_HUMAN,F8VXL0_HUMAN,F8VSA9_HUMAN,E5RJH8_HUMAN,E5RHZ8_HUMAN			YES	LARP4,missense_variant,p.Tyr403Cys,ENST00000398473,NM_199188.2,NM_052879.4;LARP4,missense_variant,p.Tyr409Cys,ENST00000429001,;LARP4,missense_variant,p.Tyr332Cys,ENST00000347328,NM_199190.2;LARP4,missense_variant,p.Tyr402Cys,ENST00000518444,;LARP4,missense_variant,p.Tyr190Cys,ENST00000520064,;LARP4,missense_variant,p.Tyr333Cys,ENST00000518561,;LARP4,missense_variant,p.Tyr403Cys,ENST00000522085,NM_001170804.1;LARP4,intron_variant,,ENST00000293618,NM_001170808.1,NM_001170803.1;							MODERATE	1208/2175	Y403C	LARP4_HUMAN			Transcript		benign(0.139)	.	ENSP00000381490		CCDS41782.1			1	
ATR	0	LGGM	GRCh37	3	142281794	142281794	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	144	13	.	.	ENST00000350721.4:c.450A>G	p.Leu150=	p.L150=	ENST00000350721	NM_001184.3	150	ttA/ttG	0	1	1	UPI0000031A31	0		ENST00000350721		ENSG00000175054	882		157			HGNC	p.L150L		ATR		SNV			1				ENST00000350721	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF64		L		C		572/8249							YES	ATR,synonymous_variant,p.=,ENST00000350721,NM_001184.3;ATR,synonymous_variant,p.=,ENST00000383101,;ATR,upstream_gene_variant,,ENST00000515149,;ATR,intron_variant,,ENST00000507148,;ATR,upstream_gene_variant,,ENST00000515863,;							LOW	450/7935		ATR_HUMAN			Transcript			.	ENSP00000343741		CCDS3124.1			1	
OR4P4	0	LGGM	GRCh37	11	55405866	55405866	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	76	13	.	.	ENST00000314612.2:c.33T>G	p.Ile11Met	p.I11M	ENST00000314612	NM_001004124.1	11	atT/atG	0	1	1	UPI0000061E8A	0	NA	ENST00000314612		ENSG00000181927	15180		89	2.5		HGNC	p.I11M		OR4P4		SNV							ENST00000314612	protein_coding	getma.org/?cm=var&var=hg19,11,55405866,T,G&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF290,Superfamily_domains:SSF81321		I/M		G	medium	33/939		getma.org/?cm=msa&ty=f&p=OR4P4_HUMAN&rb=1&re=136&var=I11M	deleterious(0)				YES	OR4P4,missense_variant,p.Ile11Met,ENST00000314612,NM_001004124.1;							MODERATE	33/939	I11M	OR4P4_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000324831		CCDS31504.1			1	
TTN	0	LGGM	GRCh37	2	179409055	179409055	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	202	14	.	.	ENST00000589042.1:c.95901T>C	p.Asn31967=	p.N31967=	ENST00000589042	NM_001267550.1	31967	aaT/aaC	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		216			HGNC	p.N23027N		TTN		SNV			1				ENST00000359218	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		N		G		91203/104301				C9JQJ2_HUMAN				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,;							LOW	90978/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ADCY2	0	LGGM	GRCh37	5	7743788	7743788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112288	H112288N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	146	15	.	.	ENST00000338316.4:c.1879G>A	p.Val627Ile	p.V627I	ENST00000338316	NM_020546.2	627	Gtc/Atc	0	1	1	UPI000066D9F2	0	NA	ENST00000338316		ENSG00000078295	233		161	0.11		HGNC	p.V627I	rs770402477,COSM1438705	ADCY2	0.000121	SNV						0,1	ENST00000338316	protein_coding	getma.org/?cm=var&var=hg19,5,7743788,G,A&fts=all		hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF253,Transmembrane_helices:TMhelix		V/I		A	neutral	1968/6575	0.000105	getma.org/?cm=msa&ty=f&p=ADCY2_HUMAN&rb=601&re=800&var=V627I	tolerated(0.27)	Q7RTV6_HUMAN,Q71UM8_HUMAN,D6REB8_HUMAN			YES	ADCY2,missense_variant,p.Val627Ile,ENST00000338316,NM_020546.2;ADCY2,missense_variant,p.Val447Ile,ENST00000537121,;RP11-711G10.1,intron_variant,,ENST00000514105,;					0,1		MODERATE	1879/3276	V627I	ADCY2_HUMAN			Transcript		benign(0.001)	.	ENSP00000342952	7.41E-05	CCDS3872.2			1	
MUC16	0	LGGM	GRCh37	19	9074295	9074295	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112288	H112288N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	207	16	.	.	ENST00000397910.4:c.13151G>T	p.Gly4384Val	p.G4384V	ENST00000397910	NM_024690.2	4384	gGa/gTa	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		223	0.345		HGNC	p.G4384V		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9074295,C,A&fts=all				G/V		A	neutral	13355/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=3942&re=4711&var=G4386V		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Gly4384Val,ENST00000397910,NM_024690.2;							MODERATE	13151/43524	G4386V				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
AHNAK2	0	LGGM	GRCh37	14	105416671	105416671	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	257	17	.	.	ENST00000333244.5:c.5117T>C	p.Leu1706Pro	p.L1706P	ENST00000333244	NM_138420.2	1706	cTc/cCc	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		274	2.945		HGNC	p.L1706P		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105416671,A,G&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		L/P		G	medium	5237/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1601&re=1800&var=L1706P					YES	AHNAK2,missense_variant,p.Leu1706Pro,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	5117/17388	L1706P	AHNK2_HUMAN			Transcript		possibly_damaging(0.537)	.	ENSP00000353114		CCDS45177.1			1	
FMN1	0	LGGM	GRCh37	15	33359884	33359884	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112288	H112288N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	222	20	.	.	ENST00000334528.9:c.202A>T	p.Thr68Ser	p.T68S	ENST00000334528	NM_001103184.3	68	Aca/Tca	0	1		UPI0001AE68B4	0		ENST00000559047		ENSG00000248905	3768		242			HGNC	p.T68S		FMN1		SNV							ENST00000334528	protein_coding							A		-/4260								FMN1,missense_variant,p.Thr68Ser,ENST00000334528,NM_001103184.3;FMN1,missense_variant,p.Thr68Ser,ENST00000558197,;FMN1,intron_variant,,ENST00000559047,NM_001277313.1;FMN1,intron_variant,,ENST00000561249,;FMN1,intron_variant,,ENST00000559150,;							MODIFIER	-/4260		FMN1_HUMAN			Transcript			.	ENSP00000454047		CCDS61581.1			1	
TTN	0	LGGM	GRCh37	2	179432064	179432064	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112288	H112288N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112288N.bam, H112288T.bam	Illumina HiSeq	310	30	.	.	ENST00000589042.1:c.78795T>C	p.Ile26265=	p.I26265=	ENST00000589042	NM_001267550.1	26265	atT/atC	0	1		UPI00025287CD	0		ENST00000591111		ENSG00000155657	12403		340			HGNC	p.I17325I		TTN		SNV			1				ENST00000359218	protein_coding			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		I		G		74097/104301				C9JQJ2_HUMAN				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,;							LOW	73872/103053		TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
HTATIP2	0	LGGM	GRCh37	11	20403723	20403723	+	splice_acceptor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	32	3	.	.	ENST00000419348.2:c.544-1G>T		p.X182_splice	ENST00000419348	NM_001098520.1			0	1		UPI000013C8B2	0		ENST00000421577		ENSG00000109854	16637		35			HGNC	-		HTATIP2		SNV							ENST00000421577	protein_coding							T		-/886								HTATIP2,splice_acceptor_variant,,ENST00000451739,NM_001098522.1;HTATIP2,splice_acceptor_variant,,ENST00000419348,NM_001098520.1;HTATIP2,splice_acceptor_variant,,ENST00000531058,;HTATIP2,splice_acceptor_variant,,ENST00000443524,NM_001098521.1;HTATIP2,splice_acceptor_variant,,ENST00000421577,NM_006410.4;HTATIP2,splice_acceptor_variant,,ENST00000533914,;							HIGH	442/729		HTAI2_HUMAN			Transcript			.	ENSP00000397752		CCDS7852.1			1	
FNTB	0	LGGM	GRCh37	14	65507536	65507536	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	45	3	.	.	ENST00000246166.2:c.721G>T	p.Gly241Trp	p.G241W	ENST00000246166	NM_002028.3	241	Ggg/Tgg	0	1	1	UPI0000111EF4	0	getma.org/pdb.php?prot=FNTB_HUMAN&from=127&to=241&var=G241W	ENST00000246166		ENSG00000257365	3785		48	3.06		HGNC	p.G275W		FNTB		SNV							ENST00000447296	protein_coding	getma.org/?cm=var&var=hg19,14,65507536,G,T&fts=all		hmmpanther:PTHR11774,hmmpanther:PTHR11774:SF6,Gene3D:1.50.10.20,Superfamily_domains:SSF48239		G/W		T	medium	955/2834		getma.org/?cm=msa&ty=f&p=FNTB_HUMAN&rb=127&re=241&var=G241W	deleterious(0)	Q86TX8_HUMAN,B4DJ86_HUMAN,B3KSC2_HUMAN			YES	FNTB,missense_variant,p.Gly241Trp,ENST00000246166,NM_002028.3;FNTB,missense_variant,p.Gly195Trp,ENST00000542227,NM_001202558.1;FNTB,missense_variant,p.Gly275Trp,ENST00000447296,;CHURC1-FNTB,missense_variant,p.Gly276Trp,ENST00000549987,NM_001202559.1;MAX,intron_variant,,ENST00000341653,NM_197957.3;MIR4706,upstream_gene_variant,,ENST00000582134,;FNTB,non_coding_transcript_exon_variant,,ENST00000556709,;CHURC1-FNTB,3_prime_UTR_variant,,ENST00000552941,;FNTB,non_coding_transcript_exon_variant,,ENST00000554334,;							MODERATE	721/1314	G241W	FNTB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000246166		CCDS9769.1			1	
TGM3	0	LGGM	GRCh37	20	2312715	2312715	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	47	3	.	.	ENST00000381458.5:c.1401C>A	p.Ala467=	p.A467=	ENST00000381458	NM_003245.3	467	gcC/gcA	0	1	1	UPI0000136CCC	0		ENST00000381458		ENSG00000125780	11779		50			HGNC	p.A467A		TGM3		SNV							ENST00000381458	protein_coding			hmmpanther:PTHR11590:SF36,hmmpanther:PTHR11590,PIRSF_domain:PIRSF000459		A		A		1464/2642							YES	TGM3,synonymous_variant,p.=,ENST00000381458,NM_003245.3;							LOW	1401/2082		TGM3_HUMAN			Transcript			.	ENSP00000370867		CCDS33435.1			1	
EIF3B	0	LGGM	GRCh37	7	2412377	2412377	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	31	3	.	.	ENST00000360876.4:c.1757G>T	p.Arg586Leu	p.R586L	ENST00000360876	NM_001037283.1	586	cGg/cTg	0	1	1	UPI000013F934	0	NA	ENST00000360876		ENSG00000106263	3280		34	2.25		HGNC	p.R586L		EIF3B		SNV							ENST00000397011	protein_coding	getma.org/?cm=var&var=hg19,7,2412377,G,T&fts=all		Superfamily_domains:0047732,Gene3D:2.130.10.10,HAMAP:MF_03001,Pfam_domain:PF08662,PIRSF_domain:PIRSF036424,hmmpanther:PTHR14068,hmmpanther:PTHR14068:SF0		R/L		T	medium	1813/3055		getma.org/?cm=msa&ty=f&p=EIF3B_HUMAN&rb=507&re=702&var=R586L	deleterious(0.02)	Q86UM1_HUMAN,C9JQN7_HUMAN			YES	EIF3B,missense_variant,p.Arg586Leu,ENST00000360876,NM_001037283.1;EIF3B,missense_variant,p.Arg586Leu,ENST00000397011,NM_003751.3;EIF3B,upstream_gene_variant,,ENST00000475415,;EIF3B,upstream_gene_variant,,ENST00000468611,;EIF3B,downstream_gene_variant,,ENST00000466199,;							MODERATE	1757/2445	R586L	EIF3B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000354125		CCDS5332.1			1	
RELT	0	LGGM	GRCh37	11	73106136	73106136	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	26	3	.	.	ENST00000064780.2:c.1051C>A	p.Arg351Ser	p.R351S	ENST00000064780	NM_152222.1	351	Cgc/Agc	0	1	1	UPI000003C9E6	0	NA	ENST00000064780		ENSG00000054967	13764		29	2.365		HGNC	p.R351S		RELT		SNV							ENST00000393580	protein_coding	getma.org/?cm=var&var=hg19,11,73106136,C,A&fts=all		hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF37		R/S		A	medium	1312/3535		getma.org/?cm=msa&ty=f&p=TR19L_HUMAN&rb=212&re=411&var=R351S	deleterious(0)	F5H2T5_HUMAN			YES	RELT,missense_variant,p.Arg351Ser,ENST00000064780,NM_152222.1;RELT,missense_variant,p.Arg351Ser,ENST00000393580,NM_032871.3;RELT,downstream_gene_variant,,ENST00000545687,;RP11-809N8.2,downstream_gene_variant,,ENST00000544674,;RELT,non_coding_transcript_exon_variant,,ENST00000545886,;RELT,non_coding_transcript_exon_variant,,ENST00000539134,;RELT,non_coding_transcript_exon_variant,,ENST00000537771,;RELT,downstream_gene_variant,,ENST00000544075,;							MODERATE	1051/1293	R351S	TR19L_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000064780		CCDS8222.1			1	
VN1R4	0	LGGM	GRCh37	19	53770205	53770205	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	10	3	.	.	ENST00000311170.4:c.714G>T	p.Leu238=	p.L238=	ENST00000311170	NM_173857.2	238	ctG/ctT	0	1	1	UPI000004B23A	0		ENST00000311170		ENSG00000228567	19871		13			HGNC	p.L238L		VN1R4		SNV							ENST00000311170	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24062,hmmpanther:PTHR24062:SF59,Gene3D:1.20.1070.10,Pfam_domain:PF03402,Superfamily_domains:SSF81321		L		A		768/1044							YES	VN1R4,synonymous_variant,p.=,ENST00000311170,NM_173857.2;CTD-2245F17.9,downstream_gene_variant,,ENST00000599803,;							LOW	714/906		VN1R4_HUMAN			Transcript			.	ENSP00000310856		CCDS33099.1			1	
TF	0	LGGM	GRCh37	3	133476769	133476769	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	37	3	.	.	ENST00000402696.3:c.1027C>A	p.Arg343=	p.R343=	ENST00000402696	NM_001063.3	343	Cgg/Agg	0	1	1	UPI000013D5A6	0		ENST00000402696		ENSG00000091513	11740		40			HGNC	p.R216R		TF		SNV			1				ENST00000264998	protein_coding			Prints_domain:PR00422,Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408		R		A		1512/2968				J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,synonymous_variant,p.=,ENST00000402696,NM_001063.3;TF,synonymous_variant,p.=,ENST00000264998,;TF,downstream_gene_variant,,ENST00000482271,;TF,downstream_gene_variant,,ENST00000466911,;TF,downstream_gene_variant,,ENST00000475382,;TFP1,downstream_gene_variant,,ENST00000460564,;TF,3_prime_UTR_variant,,ENST00000485977,;TF,downstream_gene_variant,,ENST00000493011,;TF,downstream_gene_variant,,ENST00000498622,;TF,downstream_gene_variant,,ENST00000474287,;TF,downstream_gene_variant,,ENST00000494430,;TF,downstream_gene_variant,,ENST00000460531,;TF,downstream_gene_variant,,ENST00000414694,;RP11-404G16.2,upstream_gene_variant,,ENST00000474389,;							LOW	1027/2097		TRFE_HUMAN			Transcript			.	ENSP00000385834		CCDS3080.1			1	
PCNX	0	LGGM	GRCh37	14	71413772	71413772	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	23	3	.	.	ENST00000304743.2:c.294C>A	p.Phe98Leu	p.F98L	ENST00000304743	NM_014982.2	98	ttC/ttA	0	1	1	UPI000013E9BB	0	NA	ENST00000304743		ENSG00000100731	19740		26	-0.805		HGNC	p.F98L		PCNX		SNV							ENST00000238570	protein_coding	getma.org/?cm=var&var=hg19,14,71413772,C,A&fts=all		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF2		F/L		A	neutral	740/12919		getma.org/?cm=msa&ty=f&p=PCX1_HUMAN&rb=1&re=200&var=F98L	tolerated(0.76)	Q05BT4_HUMAN			YES	PCNX,missense_variant,p.Phe98Leu,ENST00000304743,NM_014982.2;PCNX,missense_variant,p.Phe98Leu,ENST00000238570,;PCNX,missense_variant,p.Phe98Leu,ENST00000439984,;PCNX,downstream_gene_variant,,ENST00000554292,;PCNX,non_coding_transcript_exon_variant,,ENST00000554879,;PCNX,non_coding_transcript_exon_variant,,ENST00000553508,;							MODERATE	294/7026	F98L	PCX1_HUMAN			Transcript		benign(0.001)	.	ENSP00000304192		CCDS9806.1			1	
NSRP1	0	LGGM	GRCh37	17	28512018	28512018	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	43	3	.	.	ENST00000247026.5:c.1003C>A	p.Arg335Ser	p.R335S	ENST00000247026	NM_032141.3	335	Cgt/Agt	0	1	1	UPI000006E653	0	NA	ENST00000247026		ENSG00000126653	25305		46	2.015		HGNC	p.R335S		NSRP1		SNV							ENST00000247026	protein_coding	getma.org/?cm=var&var=hg19,17,28512018,C,A&fts=all		hmmpanther:PTHR31938		R/S		A	medium	1066/2541		getma.org/?cm=msa&ty=f&p=NSRP1_HUMAN&rb=201&re=400&var=R335S	tolerated(0.13)	K7ERM9_HUMAN,K7EMD8_HUMAN,K7EK40_HUMAN			YES	NSRP1,missense_variant,p.Arg335Ser,ENST00000247026,NM_032141.3,NM_001261467.1;NSRP1,downstream_gene_variant,,ENST00000580103,;NSRP1,non_coding_transcript_exon_variant,,ENST00000540900,;NSRP1,downstream_gene_variant,,ENST00000577289,;NSRP1,3_prime_UTR_variant,,ENST00000394826,;NSRP1,3_prime_UTR_variant,,ENST00000475652,;							MODERATE	1003/1677	R335S	NSRP1_HUMAN			Transcript		benign(0.027)	.	ENSP00000247026		CCDS11255.1			1	
CNTNAP5	0	LGGM	GRCh37	2	125669068	125669068	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	40	3	.	.	ENST00000431078.1:c.3677G>T	p.Arg1226Leu	p.R1226L	ENST00000431078	NM_130773.3	1226	cGg/cTg	0	1	1	UPI0000071988	0	NA	ENST00000431078		ENSG00000155052	18748		43	2.215		HGNC	p.R1226L		CNTNAP5		SNV							ENST00000431078	protein_coding	getma.org/?cm=var&var=hg19,2,125669068,G,T&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF605		R/L		T	medium	4041/5284		getma.org/?cm=msa&ty=f&p=CNTP5_HUMAN&rb=1174&re=1306&var=R1226L	tolerated(0.18)				YES	CNTNAP5,missense_variant,p.Arg1226Leu,ENST00000431078,NM_130773.3;							MODERATE	3677/3921	R1226L	CNTP5_HUMAN			Transcript		benign(0.246)	.	ENSP00000399013		CCDS46401.1			1	
HKDC1	0	LGGM	GRCh37	10	71003096	71003096	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	28	3	.	.	ENST00000354624.5:c.850G>T	p.Gly284Cys	p.G284C	ENST00000354624	NM_025130.3	284	Ggc/Tgc	0	1	1	UPI00003666D2	0	getma.org/pdb.php?prot=HKDC1_HUMAN&from=223&to=462&var=G284C	ENST00000354624		ENSG00000156510	23302		31	2.44		HGNC	p.G284C		HKDC1		SNV							ENST00000395086	protein_coding	getma.org/?cm=var&var=hg19,10,71003096,G,T&fts=all		Superfamily_domains:SSF53067,Gene3D:3.40.367.20,Pfam_domain:PF03727,hmmpanther:PTHR19443,hmmpanther:PTHR19443:SF12		G/C		T	medium	983/3689		getma.org/?cm=msa&ty=f&p=HKDC1_HUMAN&rb=223&re=462&var=G284C	deleterious(0.02)				YES	HKDC1,missense_variant,p.Gly284Cys,ENST00000354624,NM_025130.3;HKDC1,missense_variant,p.Gly284Cys,ENST00000395086,;HKDC1,upstream_gene_variant,,ENST00000488706,;							MODERATE	850/2754	G284C	HKDC1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000346643		CCDS7288.1			1	
SVIL	0	LGGM	GRCh37	10	29839975	29839975	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	45	3	.	.	ENST00000375398.2:c.378C>A	p.Pro126=	p.P126=	ENST00000375398		126	ccC/ccA	0	1		UPI0000366678	0		ENST00000355867		ENSG00000197321	11480		48			HGNC	p.P126P		SVIL		SNV							ENST00000355867	protein_coding					P		T		1131/7586				Q569J5_HUMAN				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,;							LOW	378/6645		SVIL_HUMAN			Transcript			.	ENSP00000348128		CCDS7164.1			1	
SH3BP4	0	LGGM	GRCh37	2	235949780	235949780	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	29	3	.	.	ENST00000409212.1:c.367G>T	p.Gly123Cys	p.G123C	ENST00000409212		123	Ggt/Tgt	0	1		UPI000006DA47	0	NA	ENST00000344528		ENSG00000130147	10826		32	1.04		HGNC	p.G123C		SH3BP4		SNV							ENST00000446904	protein_coding	getma.org/?cm=var&var=hg19,2,235949780,G,T&fts=all		hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603		G/C		T	low	687/5044		getma.org/?cm=msa&ty=f&p=SH3B4_HUMAN&rb=107&re=138&var=G123C	deleterious(0)	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN				SH3BP4,missense_variant,p.Gly123Cys,ENST00000409212,;SH3BP4,missense_variant,p.Gly123Cys,ENST00000392011,NM_014521.2;SH3BP4,missense_variant,p.Gly123Cys,ENST00000344528,;SH3BP4,missense_variant,p.Gly123Cys,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;							MODERATE	367/2892	G123C	SH3B4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340237		CCDS2513.1			1	
EPPK1	0	LGGM	GRCh37	8	144942997	144942997	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	10	3	.	.	ENST00000525985.1:c.4425C>A	p.Ser1475=	p.S1475=	ENST00000525985	NM_031308.2	1475	tcC/tcA	0	1	1	UPI00006C0DF1	0		ENST00000525985		ENSG00000227184	15577		13			HGNC	p.S1475S		EPPK1		SNV							ENST00000525985	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252		S		T		4497/7997				E9PPU0_HUMAN			YES	EPPK1,synonymous_variant,p.=,ENST00000525985,NM_031308.2;							LOW	4425/7263					Transcript			.	ENSP00000436337					1	
PRX	0	LGGM	GRCh37	19	40903218	40903218	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	11	3	.	.	ENST00000324001.7:c.1041G>T	p.Arg347=	p.R347=	ENST00000324001	NM_181882.2	347	cgG/cgT	0	1	1	UPI000044CC1A	0		ENST00000324001		ENSG00000105227	13797		14			HGNC	p.R347R		PRX		SNV			1				ENST00000324001	protein_coding			hmmpanther:PTHR23348:SF39,hmmpanther:PTHR23348		R		A		1312/4855							YES	PRX,synonymous_variant,p.=,ENST00000324001,NM_181882.2;PRX,3_prime_UTR_variant,,ENST00000291825,NM_020956.2;							LOW	1041/4386		PRAX_HUMAN			Transcript			.	ENSP00000326018		CCDS33028.1			1	
TRRAP	0	LGGM	GRCh37	7	98602765	98602765	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	18	3	.	.	ENST00000359863.4:c.10505G>T	p.Arg3502Leu	p.R3502L	ENST00000359863	NM_001244580.1	3502	cGg/cTg	0	1	1	UPI00004575B4	0	NA	ENST00000359863		ENSG00000196367	12347		21	2.595		HGNC	p.R3502L		TRRAP		SNV							ENST00000359863	protein_coding	getma.org/?cm=var&var=hg19,7,98602765,G,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF1,Superfamily_domains:SSF56112		R/L		T	medium	10714/12677		getma.org/?cm=msa&ty=f&p=TRRAP_HUMAN&rb=3405&re=3525&var=R3502L		C9K0N1_HUMAN			YES	TRRAP,missense_variant,p.Arg3502Leu,ENST00000359863,NM_001244580.1;TRRAP,missense_variant,p.Arg3473Leu,ENST00000355540,NM_003496.3;TRRAP,missense_variant,p.Arg3491Leu,ENST00000446306,;TRRAP,missense_variant,p.Arg3231Leu,ENST00000456197,;							MODERATE	10505/11580	R3502L	TRRAP_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000352925		CCDS59066.1			1	
GANAB	0	LGGM	GRCh37	11	62396765	62396765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	42	3	.	.	ENST00000346178.4:c.1903G>T	p.Ala635Ser	p.A635S	ENST00000346178	NM_198335.3	635	Gcc/Tcc	0	1		UPI000013D62E	0	getma.org/pdb.php?prot=GANAB_HUMAN&from=364&to=810&var=A613S	ENST00000356638		ENSG00000089597	4138		45	2.26		HGNC	p.A613S		GANAB		SNV							ENST00000356638	protein_coding	getma.org/?cm=var&var=hg19,11,62396765,C,A&fts=all		Pfam_domain:PF01055,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF51,Superfamily_domains:SSF51445		A/S		A	medium	1854/3608		getma.org/?cm=msa&ty=f&p=GANAB_HUMAN&rb=364&re=810&var=A613S	deleterious(0.03)	F5H6X6_HUMAN				GANAB,missense_variant,p.Ala635Ser,ENST00000346178,NM_198335.3;GANAB,missense_variant,p.Ala613Ser,ENST00000356638,NM_198334.2;GANAB,missense_variant,p.Ala516Ser,ENST00000540933,NM_001278194.1;GANAB,missense_variant,p.Ala521Ser,ENST00000534779,NM_001278193.1,NM_001278192.1;GANAB,downstream_gene_variant,,ENST00000525994,;GANAB,downstream_gene_variant,,ENST00000534422,;GANAB,splice_region_variant,,ENST00000532402,;GANAB,downstream_gene_variant,,ENST00000526732,;GANAB,downstream_gene_variant,,ENST00000534613,;GANAB,upstream_gene_variant,,ENST00000528503,;GANAB,upstream_gene_variant,,ENST00000531563,;							MODERATE	1837/2835	A613S	GANAB_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000349053		CCDS8026.1			1	
COLEC12	0	LGGM	GRCh37	18	346445	346445	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	38	3	.	.	ENST00000400256.3:c.1177C>A	p.Arg393Ser	p.R393S	ENST00000400256	NM_130386.2	393	Cgt/Agt	0	1	1	UPI00002018EC	0	NA	ENST00000400256		ENSG00000158270	16016		41	0.805		HGNC	p.R393S		COLEC12		SNV							ENST00000400256	protein_coding	getma.org/?cm=var&var=hg19,18,346445,G,T&fts=all		hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19		R/S		T	low	1385/3121		getma.org/?cm=msa&ty=f&p=COL12_HUMAN&rb=1&re=440&var=R393S	deleterious(0.02)				YES	COLEC12,missense_variant,p.Arg393Ser,ENST00000400256,NM_130386.2;COLEC12,non_coding_transcript_exon_variant,,ENST00000582147,;							MODERATE	1177/2229	R393S	COL12_HUMAN			Transcript		benign(0.393)	.	ENSP00000383115		CCDS32782.1			1	
CGB1	0	LGGM	GRCh37	19	49539493	49539493	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	12	3	.	.	ENST00000301407.7:c.77G>A	p.Arg26Gln	p.R26Q	ENST00000301407	NM_033377.1	26	cGg/cAg	0	1	1	UPI0000EE7C13	0		ENST00000301407		ENSG00000267631	16721		15			HGNC	p.R26Q		CGB1		SNV							ENST00000391869	protein_coding			Gene3D:2.10.90.10,Pfam_domain:PF00007,hmmpanther:PTHR11515,hmmpanther:PTHR11515:SF12,SMART_domains:SM00068,Superfamily_domains:SSF57501		R/Q		T		182/573			tolerated(0.29)	K7ELM3_HUMAN			YES	CGB1,missense_variant,p.Arg14Gln,ENST00000601167,;CGB1,missense_variant,p.Arg26Gln,ENST00000301407,NM_033377.1;CGB1,missense_variant,p.Arg26Gln,ENST00000391869,;CTB-60B18.6,intron_variant,,ENST00000591656,;CTB-60B18.6,intron_variant,,ENST00000604577,;CGB2,downstream_gene_variant,,ENST00000474913,;CGB2,downstream_gene_variant,,ENST00000359342,NM_033378.1;NTF6B,downstream_gene_variant,,ENST00000591913,;							MODERATE	77/468		CGB1_HUMAN			Transcript		benign(0.364)	.	ENSP00000301407		CCDS12751.2			1	
MMP7	0	LGGM	GRCh37	11	102401360	102401360	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	18	3	.	.	ENST00000260227.4:c.72G>T	p.Ala24=	p.A24=	ENST00000260227	NM_002423.3	24	gcG/gcT	0	1	1	UPI00000422BD	0		ENST00000260227		ENSG00000137673	7174		21			HGNC	p.A24A	rs767207306	MMP7		SNV							ENST00000260227	protein_coding			hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF128,Superfamily_domains:SSF47090		A		A		125/1125	4.52E-05			A5GZ72_HUMAN			YES	MMP7,synonymous_variant,p.=,ENST00000260227,NM_002423.3;MMP7,non_coding_transcript_exon_variant,,ENST00000533366,;MMP7,non_coding_transcript_exon_variant,,ENST00000531200,;							LOW	72/804		MMP7_HUMAN			Transcript			.	ENSP00000260227	2.47E-05	CCDS8317.1			1	
PRPF8	0	LGGM	GRCh37	17	1587801	1587801	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	30	3	.	.	ENST00000572621.1:c.65C>A	p.Pro22Gln	p.P22Q	ENST00000572621		22	cCg/cAg	0	1		UPI000006F2DD	0	NA	ENST00000304992		ENSG00000174231	17340		33	1.385		HGNC	p.P22Q		PRPF8		SNV			1				ENST00000304992	protein_coding	getma.org/?cm=var&var=hg19,17,1587801,G,T&fts=all		hmmpanther:PTHR11140,hmmpanther:PTHR11140:SF0		P/Q		T	low	179/7295		getma.org/?cm=msa&ty=f&p=PRP8_HUMAN&rb=1&re=57&var=P22Q	deleterious_low_confidence(0.01)					PRPF8,missense_variant,p.Pro22Gln,ENST00000572621,;PRPF8,missense_variant,p.Pro22Gln,ENST00000304992,NM_006445.3;PRPF8,missense_variant,p.Pro22Gln,ENST00000577001,;PRPF8,non_coding_transcript_exon_variant,,ENST00000571346,;PRPF8,upstream_gene_variant,,ENST00000574728,;							MODERATE	65/7008	P22Q	PRP8_HUMAN			Transcript		benign(0.049)	.	ENSP00000304350		CCDS11010.1			1	
HSF1	0	LGGM	GRCh37	8	145532686	145532686	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	37	3	.	.	ENST00000528838.1:c.212G>T	p.Arg71Leu	p.R71L	ENST00000528838	NM_005526.2	71	cGg/cTg	0	1	1	UPI0000000DE5	0	getma.org/pdb.php?prot=HSF1_HUMAN&from=17&to=122&var=R71L	ENST00000528838		ENSG00000185122	5224		40	4.77		HGNC	p.R71L		HSF1		SNV							ENST00000528838	protein_coding	getma.org/?cm=var&var=hg19,8,145532686,G,T&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00447,Prints_domain:PR00056,PROSITE_patterns:PS00434,hmmpanther:PTHR10015,hmmpanther:PTHR10015:SF142,SMART_domains:SM00415,Superfamily_domains:SSF46785		R/L		T	high	372/2142		getma.org/?cm=msa&ty=f&p=HSF1_HUMAN&rb=17&re=122&var=R71L	deleterious(0)	E9PI02_HUMAN,B4DTG4_HUMAN,B3KWP0_HUMAN			YES	HSF1,missense_variant,p.Arg71Leu,ENST00000528838,NM_005526.2;HSF1,missense_variant,p.Arg6Leu,ENST00000400780,;HSF1,missense_variant,p.Arg6Leu,ENST00000533240,;HSF1,non_coding_transcript_exon_variant,,ENST00000528988,;HSF1,upstream_gene_variant,,ENST00000528842,;HSF1,upstream_gene_variant,,ENST00000534314,;HSF1,upstream_gene_variant,,ENST00000528199,;HSF1,upstream_gene_variant,,ENST00000529630,;HSF1,upstream_gene_variant,,ENST00000530661,;HSF1,upstream_gene_variant,,ENST00000533130,;HSF1,upstream_gene_variant,,ENST00000531447,;HSF1,upstream_gene_variant,,ENST00000532338,;HSF1,upstream_gene_variant,,ENST00000527328,;							MODERATE	212/1590	R71L	HSF1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000431512		CCDS6419.1			1	
ZNF646	0	LGGM	GRCh37	16	31088760	31088760	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	10	3	.	.	ENST00000300850.5:c.1115G>T	p.Arg372Leu	p.R372L	ENST00000300850	NM_014699.3	372	cGg/cTg	0	1		UPI00001395B0	0	NA	ENST00000394979		ENSG00000167395	29004		13	0.895		HGNC	p.R372L		ZNF646		SNV							ENST00000394979	protein_coding	getma.org/?cm=var&var=hg19,16,31088760,G,T&fts=all		Superfamily_domains:SSF57667,Gene3D:3.30.160.60,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF182		R/L		T	low	1538/8118		getma.org/?cm=msa&ty=f&p=ZN646_HUMAN&rb=317&re=373&var=R372L	tolerated(0.08)	H3BSD0_HUMAN,C9J3L0_HUMAN				ZNF646,missense_variant,p.Arg372Leu,ENST00000394979,;ZNF646,missense_variant,p.Arg372Leu,ENST00000300850,NM_014699.3;ZNF668,upstream_gene_variant,,ENST00000538906,NM_001172668.1;ZNF668,upstream_gene_variant,,ENST00000300849,NM_024706.4;ZNF668,upstream_gene_variant,,ENST00000394983,;ZNF646,downstream_gene_variant,,ENST00000428260,;ZNF646,downstream_gene_variant,,ENST00000564189,;ZNF668,upstream_gene_variant,,ENST00000414399,;ZNF668,upstream_gene_variant,,ENST00000417935,;ZNF668,upstream_gene_variant,,ENST00000564456,;							MODERATE	1115/5490	R372L	ZN646_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000378429					1	
POLD2	0	LGGM	GRCh37	7	44157579	44157579	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	37	3	.	.	ENST00000406581.2:c.305C>A	p.Pro102Gln	p.P102Q	ENST00000406581	NM_001256879.1	102	cCg/cAg	0	1	1	UPI000004D0E7	0	getma.org/pdb.php?prot=DPOD2_HUMAN&from=1&to=195&var=P102Q	ENST00000406581		ENSG00000106628	9176		40	0.05		HGNC	p.P102Q	rs546429678	POLD2	0.000242	SNV							ENST00000433715	protein_coding	getma.org/?cm=var&var=hg19,7,44157579,G,T&fts=all	A:0	hmmpanther:PTHR10416,hmmpanther:PTHR10416:SF0		P/Q		T	neutral	955/2158		getma.org/?cm=msa&ty=f&p=DPOD2_HUMAN&rb=1&re=195&var=P102Q	tolerated(0.39)	C9JLE1_HUMAN,C9J8Z7_HUMAN,C9IZD2_HUMAN,A4D2J4_HUMAN	A:0	A:0	YES	POLD2,missense_variant,p.Pro102Gln,ENST00000406581,NM_001256879.1;POLD2,missense_variant,p.Pro102Gln,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,missense_variant,p.Pro102Gln,ENST00000223361,;POLD2,missense_variant,p.Pro102Gln,ENST00000433715,;POLD2,missense_variant,p.Pro102Gln,ENST00000456038,;POLD2,missense_variant,p.Pro102Gln,ENST00000418438,;POLD2,intron_variant,,ENST00000436844,;AEBP1,downstream_gene_variant,,ENST00000223357,NM_001129.4;AEBP1,downstream_gene_variant,,ENST00000450684,;POLD2,upstream_gene_variant,,ENST00000436400,;POLD2,downstream_gene_variant,,ENST00000481763,;POLD2,non_coding_transcript_exon_variant,,ENST00000463464,;POLD2,non_coding_transcript_exon_variant,,ENST00000470867,;POLD2,non_coding_transcript_exon_variant,,ENST00000464871,;POLD2,non_coding_transcript_exon_variant,,ENST00000496539,;POLD2,non_coding_transcript_exon_variant,,ENST00000467469,;POLD2,non_coding_transcript_exon_variant,,ENST00000461116,;AEBP1,downstream_gene_variant,,ENST00000413907,;POLD2,upstream_gene_variant,,ENST00000481104,;POLD2,upstream_gene_variant,,ENST00000489883,;		A:0.0002					MODERATE	305/1410	P102Q	DPOD2_HUMAN		A:0	Transcript		benign(0.002)	.	ENSP00000386105	3.29E-05	CCDS5477.1		A:0.001	1	
ZNF263	0	LGGM	GRCh37	16	3340415	3340415	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	46	3	.	.	ENST00000219069.5:c.1909G>T	p.Gly637Ter	p.G637*	ENST00000219069	NM_005741.4	637	Gga/Tga	0	1	1	UPI000013C33A	0	NA	ENST00000219069		ENSG00000006194	13056		49	0		HGNC	p.G637X		ZNF263		SNV							ENST00000219069	protein_coding	getma.org/?cm=var&var=hg19,16,3340415,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF50,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/*		T	NA	2785/3830		NA		B4DI05_HUMAN			YES	ZNF263,stop_gained,p.Gly637Ter,ENST00000219069,NM_005741.4;ZNF263,stop_gained,p.Gly69Ter,ENST00000575332,;ZNF263,stop_gained,p.Gly285Ter,ENST00000538765,;ZNF263,stop_gained,p.Gly5Ter,ENST00000574674,;ZNF263,downstream_gene_variant,,ENST00000573578,;ZNF263,downstream_gene_variant,,ENST00000574253,;ZNF263,downstream_gene_variant,,ENST00000575823,;ZNF263,downstream_gene_variant,,ENST00000572748,;							HIGH	1909/2052	G637*	ZN263_HUMAN			Transcript			.	ENSP00000219069		CCDS10499.1			1	
NBAS	0	LGGM	GRCh37	2	15701328	15701328	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	39	3	.	.	ENST00000281513.5:c.101C>A	p.Pro34Gln	p.P34Q	ENST00000281513	NM_015909.3	34	cCg/cAg	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		42	1.085		HGNC	p.P34Q		NBAS		SNV			1				ENST00000441750	protein_coding	getma.org/?cm=var&var=hg19,2,15701328,G,T&fts=all		hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		P/Q		T	low	127/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=1&re=200&var=P34Q	tolerated(0.36)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.Pro34Gln,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Pro34Gln,ENST00000441750,;AC008278.2,upstream_gene_variant,,ENST00000438178,;							MODERATE	101/7116	P34Q	NBAS_HUMAN			Transcript		benign(0.025)	.	ENSP00000281513		CCDS1685.1			1	
GTF2IRD2B	0	LGGM	GRCh37	7	74564650	74564650	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	25	3	.	.	ENST00000312575.7:c.2397G>T	p.Thr799=	p.T799=	ENST00000312575	NM_001003795.2	799	acG/acT	0	1			0		ENST00000472837		ENSG00000174428	33125		28			HGNC	p.T799T		GTF2IRD2B		SNV							ENST00000312575	retained_intron							T		2085/3058								GTF2IRD2B,synonymous_variant,p.=,ENST00000312575,NM_001003795.2;GTF2IRD2B,synonymous_variant,p.=,ENST00000418185,;GTF2IRD2B,downstream_gene_variant,,ENST00000356115,;GTF2IRD2B,downstream_gene_variant,,ENST00000430511,;GTF2IRD2B,downstream_gene_variant,,ENST00000394939,;GTF2IRD2B,3_prime_UTR_variant,,ENST00000423666,;GTF2IRD2B,non_coding_transcript_exon_variant,,ENST00000472837,;							MODIFIER						Transcript			.						1	
ZFP91	0	LGGM	GRCh37	11	58377457	58377457	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	35	3	.	.	ENST00000316059.6:c.525C>A	p.Thr175=	p.T175=	ENST00000316059	NM_001197051.1	175	acC/acA	0	1	1	UPI0000070D45	0		ENST00000316059		ENSG00000186660	14983		38			HGNC	p.T175T		ZFP91		SNV							ENST00000389919	protein_coding			hmmpanther:PTHR11389:SF437,hmmpanther:PTHR11389		T		A		696/5220				B4DIN6_HUMAN			YES	ZFP91,synonymous_variant,p.=,ENST00000316059,NM_001197051.1,NM_053023.4;AP001350.1,downstream_gene_variant,,ENST00000601906,;ZFP91-CNTF,synonymous_variant,p.=,ENST00000389919,;ZFP91-CNTF,synonymous_variant,p.=,ENST00000422974,;							LOW	525/1713		ZFP91_HUMAN			Transcript			.	ENSP00000339030		CCDS31553.1			1	
MUC4	0	LGGM	GRCh37	3	195514418	195514418	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	15	3	.	.	ENST00000463781.3:c.4033C>A	p.Leu1345Ile	p.L1345I	ENST00000463781	NM_018406.6	1345	Ctt/Att	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		18	0.55		HGNC	p.L1345I		MUC4		SNV							ENST00000463781	protein_coding	getma.org/?cm=var&var=hg19,3,195514418,G,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		L/I		T	neutral	4493/17110		getma.org/?cm=msa&ty=f&p=E9PDY6_HUMAN&rb=971&re=4249&var=L1345I		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Leu1345Ile,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Leu1345Ile,ENST00000475231,;MUC4,intron_variant,,ENST00000346145,NM_004532.5;MUC4,intron_variant,,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Leu1345Ile,ENST00000478156,;MUC4,missense_variant,p.Leu1345Ile,ENST00000466475,;MUC4,missense_variant,p.Leu1345Ile,ENST00000477756,;MUC4,missense_variant,p.Leu1345Ile,ENST00000477086,;MUC4,missense_variant,p.Leu1345Ile,ENST00000480843,;MUC4,missense_variant,p.Leu1345Ile,ENST00000462323,;MUC4,missense_variant,p.Leu1345Ile,ENST00000470451,;MUC4,missense_variant,p.Leu1345Ile,ENST00000479406,;							MODERATE	4033/16239	L1345I				Transcript		unknown(0)	.	ENSP00000417498		CCDS54700.1			1	
KY	0	LGGM	GRCh37	3	134362183	134362183	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	8	3	.	.	ENST00000423778.2:c.237G>T	p.Gln79His	p.Q79H	ENST00000423778	NM_178554.4	79	caG/caT	0	1	1	UPI0000EE2109	0	NA	ENST00000423778		ENSG00000174611	26576		11	1.845		HGNC	p.Q79H		KY		SNV							ENST00000423778	protein_coding	getma.org/?cm=var&var=hg19,3,134362183,C,A&fts=all		hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF31		Q/H		A	low	299/2345		getma.org/?cm=msa&ty=f&p=KY_HUMAN&rb=1&re=168&var=Q79H	deleterious_low_confidence(0)				YES	KY,missense_variant,p.Gln79His,ENST00000423778,NM_178554.4;KY,missense_variant,p.Gln79His,ENST00000503669,;KY,intron_variant,,ENST00000508956,;EPHB1,intron_variant,,ENST00000460895,;EPHB1,intron_variant,,ENST00000467708,;KY,non_coding_transcript_exon_variant,,ENST00000506319,;							MODERATE	237/1986	Q79H	KY_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000397598		CCDS46920.1			1	
DENND5A	0	LGGM	GRCh37	11	9215203	9215203	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	37	3	.	.	ENST00000328194.3:c.975G>T	p.Ala325=	p.A325=	ENST00000328194	NM_015213.3	325	gcG/gcT	0	1	1	UPI00001C1F29	0		ENST00000328194		ENSG00000184014	19344		40			HGNC	p.A325A		DENND5A		SNV							ENST00000530044	protein_coding			Pfam_domain:PF02141,PROSITE_profiles:PS50211,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF45,SMART_domains:SM00799		A		A		1296/5031				B3KWN5_HUMAN			YES	DENND5A,synonymous_variant,p.=,ENST00000328194,NM_015213.3,NM_001243254.1;DENND5A,synonymous_variant,p.=,ENST00000530044,;DENND5A,synonymous_variant,p.=,ENST00000526707,;							LOW	975/3864		DEN5A_HUMAN			Transcript			.	ENSP00000328524		CCDS31423.1			1	
CRY2	0	LGGM	GRCh37	11	45891064	45891064	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	40	3	.	.	ENST00000443527.2:c.953G>T	p.Arg318Leu	p.R318L	ENST00000443527	NM_021117.3	318	cGg/cTg	0	1	1	UPI000174F724	0	getma.org/pdb.php?prot=CRY2_HUMAN&from=231&to=507&var=R297L	ENST00000443527		ENSG00000121671	2385		43	0.965		HGNC	p.R236L		CRY2		SNV							ENST00000417225	protein_coding	getma.org/?cm=var&var=hg19,11,45891064,G,T&fts=all		hmmpanther:PTHR11455,hmmpanther:PTHR11455:SF15,Gene3D:1.25.40.80,Pfam_domain:PF03441,Superfamily_domains:SSF48173		R/L		T	low	975/4203		getma.org/?cm=msa&ty=f&p=CRY2_HUMAN&rb=231&re=507&var=R297L	deleterious(0)	B4DZD6_HUMAN,B4DIJ2_HUMAN,A2I2P1_HUMAN			YES	CRY2,missense_variant,p.Arg318Leu,ENST00000443527,NM_021117.3;CRY2,missense_variant,p.Arg236Leu,ENST00000417225,NM_001127457.1;CRY2,non_coding_transcript_exon_variant,,ENST00000495237,;CRY2,non_coding_transcript_exon_variant,,ENST00000496667,;CRY2,upstream_gene_variant,,ENST00000488962,;CRY2,downstream_gene_variant,,ENST00000525110,;							MODERATE	953/1845	R297L				Transcript		benign(0.339)	.	ENSP00000406751		CCDS7915.2			1	
PTPN3	0	LGGM	GRCh37	9	112151621	112151621	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	33	3	.	.	ENST00000374541.2:c.2145C>A	p.Ile715=	p.I715=	ENST00000374541	NM_001145368.1	715	atC/atA	0	1	1	UPI000013D2D2	0		ENST00000374541		ENSG00000070159	9655		36			HGNC	p.I715I		PTPN3		SNV			1				ENST00000374541	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Gene3D:3.90.190.10,Pfam_domain:PF00102,SMART_domains:SM00194,PIRSF_domain:PIRSF000927,Superfamily_domains:SSF52799,Prints_domain:PR00700		I		T		2250/6703				B7Z8K9_HUMAN			YES	PTPN3,synonymous_variant,p.=,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,synonymous_variant,p.=,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,synonymous_variant,p.=,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,synonymous_variant,p.=,ENST00000262539,;PTPN3,synonymous_variant,p.=,ENST00000394827,;PTPN3,non_coding_transcript_exon_variant,,ENST00000497739,;							LOW	2145/2742		PTN3_HUMAN			Transcript			.	ENSP00000363667		CCDS6776.1			1	
SHC3	0	LGGM	GRCh37	9	91690079	91690079	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112290	H112290N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	27	3	.	.	ENST00000375835.4:c.674T>C	p.Ile225Thr	p.I225T	ENST00000375835	NM_016848.5	225	aTc/aCc	0	1	1	UPI0000073E1F	0	getma.org/pdb.php?prot=SHC3_HUMAN&from=155&to=311&var=I225T	ENST00000375835		ENSG00000148082	18181		30	3.04		HGNC	p.I225T		SHC3		SNV							ENST00000375835	protein_coding	getma.org/?cm=var&var=hg19,9,91690079,A,G&fts=all		PROSITE_profiles:PS01179,hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729,Prints_domain:PR00629		I/T		G	medium	981/2394		getma.org/?cm=msa&ty=f&p=SHC3_HUMAN&rb=155&re=311&var=I225T	deleterious(0)				YES	SHC3,missense_variant,p.Ile225Thr,ENST00000375835,NM_016848.5;SHC3,5_prime_UTR_variant,,ENST00000375830,;							MODERATE	674/1785	I225T	SHC3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000364995		CCDS6681.1			1	
TCF20	0	LGGM	GRCh37	22	42610278	42610278	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	32	4	.	.	ENST00000359486.3:c.1034G>T	p.Gly345Val	p.G345V	ENST00000359486	NM_005650.2	345	gGg/gTg	0	1	1	UPI00001A95D9	0	NA	ENST00000359486		ENSG00000100207	11631		36	1.59		HGNC	p.G345V		TCF20		SNV							ENST00000359486	protein_coding	getma.org/?cm=var&var=hg19,22,42610278,C,A&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF7		G/V		A	low	1171/7410		getma.org/?cm=msa&ty=f&p=TCF20_HUMAN&rb=321&re=488&var=G345V		I3L1M7_HUMAN			YES	TCF20,missense_variant,p.Gly345Val,ENST00000359486,NM_005650.2;TCF20,missense_variant,p.Gly345Val,ENST00000335626,NM_181492.2;TCF20,upstream_gene_variant,,ENST00000404876,;TCF20,downstream_gene_variant,,ENST00000515426,;							MODERATE	1034/5883	G345V	TCF20_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000352463		CCDS14033.1			1	
TLR9	0	LGGM	GRCh37	3	52256351	52256351	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	44	4	.	.	ENST00000360658.2:c.1981C>A	p.Arg661Ser	p.R661S	ENST00000360658	NM_017442.3	661	Cgt/Agt	0	1	1	UPI0000001625	0	getma.org/pdb.php?prot=TLR9_HUMAN&from=546&to=676&var=R661S	ENST00000360658		ENSG00000239732	15633		48	-0.88		HGNC	p.R685S		TLR9		SNV							ENST00000597542	protein_coding	getma.org/?cm=var&var=hg19,3,52256351,G,T&fts=all		Gene3D:3.80.10.10,PROSITE_profiles:PS51450,hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF37,Superfamily_domains:SSF52058		R/S		T	neutral	2615/3870		getma.org/?cm=msa&ty=f&p=TLR9_HUMAN&rb=546&re=676&var=R661S	tolerated(0.44)	C3W5P5_HUMAN			YES	TLR9,missense_variant,p.Arg685Ser,ENST00000597542,;TLR9,missense_variant,p.Arg661Ser,ENST00000360658,NM_017442.3;TLR9,missense_variant,p.Arg815Ser,ENST00000494383,;TLR9,downstream_gene_variant,,ENST00000478201,;							MODERATE	1981/3099	R661S	TLR9_HUMAN			Transcript		benign(0.081)	.	ENSP00000353874		CCDS2848.1			1	
SYNE1	0	LGGM	GRCh37	6	152464785	152464785	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	41	4	.	.	ENST00000367255.5:c.25092G>T	p.Pro8364=	p.P8364=	ENST00000367255	NM_182961.3	8364	ccG/ccT	0	1	1	UPI000204AF58	0		ENST00000367255		ENSG00000131018	17089		45			HGNC	p.P8316P		SYNE1		SNV			1				ENST00000448038	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267		P		A		25694/27748							YES	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,synonymous_variant,p.=,ENST00000356820,;SYNE1,synonymous_variant,p.=,ENST00000367251,;SYNE1,synonymous_variant,p.=,ENST00000367257,;SYNE1,synonymous_variant,p.=,ENST00000539504,;SYNE1,synonymous_variant,p.=,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,;SYNE1,downstream_gene_variant,,ENST00000472563,;							LOW	25092/26394		SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
SEPHS2	0	LGGM	GRCh37	16	30456296	30456296	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	43	4	.	.	ENST00000500504.2:c.753C>A	p.Thr251=	p.T251=	ENST00000500504		251	acC/acA	0	1	1	UPI00001678A0	0		ENST00000500504		ENSG00000179918	19686		47			HGNC	p.T194T	rs776777571	SEPHS2	0.000185	SNV							ENST00000542752	protein_coding			Pfam_domain:PF02769,hmmpanther:PTHR10256,hmmpanther:PTHR10256:SF1,Superfamily_domains:SSF56042,TIGRFAM_domain:TIGR00476		T		T		753/1347				B4E093_HUMAN			YES	SEPHS2,synonymous_variant,p.=,ENST00000478753,;SEPHS2,synonymous_variant,p.=,ENST00000542752,NM_012248.2;SEPHS2,synonymous_variant,p.=,ENST00000500504,;							LOW	753/1347		SPS2_HUMAN			Transcript			.	ENSP00000426234	2.48E-05	CCDS42150.1			1	
RAD51D	0	LGGM	GRCh37	17	33445588	33445588	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	35	4	.	.	ENST00000335858.7:c.144+542C>A		*48*	ENST00000335858	NM_133629.2			0	1		UPI0000000DE1	0		ENST00000345365		ENSG00000185379	9823		39			HGNC	p.P65P		RAD51D		SNV			1				ENST00000394589	protein_coding			hmmpanther:PTHR22942:SF8,hmmpanther:PTHR22942,PIRSF_domain:PIRSF005856		P		T		451/2404				Q7Z790_HUMAN,K7EMF1_HUMAN,K7EJ58_HUMAN,H0UID0_HUMAN				RAD51D,synonymous_variant,p.=,ENST00000345365,NM_002878.3;RAD51D,synonymous_variant,p.=,ENST00000394589,;RAD51D,synonymous_variant,p.=,ENST00000360276,;RAD51D,synonymous_variant,p.=,ENST00000592577,;RAD51D,synonymous_variant,p.=,ENST00000357906,;RAD51D,5_prime_UTR_variant,,ENST00000460118,;RAD51L3-RFFL,intron_variant,,ENST00000593039,;RAD51D,intron_variant,,ENST00000590016,NM_001142571.1;RAD51D,intron_variant,,ENST00000335858,NM_133629.2;RAD51L3-RFFL,intron_variant,,ENST00000592181,;RAD51D,intron_variant,,ENST00000587405,;RAD51L3-RFFL,intron_variant,,ENST00000591723,;RAD51D,intron_variant,,ENST00000590631,;FNDC8,upstream_gene_variant,,ENST00000158009,NM_017559.2;RAD51D,non_coding_transcript_exon_variant,,ENST00000415064,;RAD51D,intron_variant,,ENST00000590380,;RAD51D,intron_variant,,ENST00000592430,;RAD51D,intron_variant,,ENST00000587982,;RAD51D,intron_variant,,ENST00000585982,;RAD51D,missense_variant,p.Arg34Ser,ENST00000586186,;RAD51D,missense_variant,p.Arg34Ser,ENST00000592928,;RAD51D,synonymous_variant,p.=,ENST00000587977,;RAD51D,synonymous_variant,p.=,ENST00000586210,;RAD51D,synonymous_variant,p.=,ENST00000585343,;RAD51D,synonymous_variant,p.=,ENST00000592850,;RAD51D,intron_variant,,ENST00000588372,;RAD51D,intron_variant,,ENST00000586044,;RAD51D,intron_variant,,ENST00000588594,;RAD51D,intron_variant,,ENST00000585947,;RAD51D,intron_variant,,ENST00000589506,;							LOW	195/987		RA51D_HUMAN			Transcript			.	ENSP00000338790		CCDS11287.1			1	
MLH3	0	LGGM	GRCh37	14	75515207	75515207	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	40	4	.	.	ENST00000355774.2:c.1152C>A	p.Ser384=	p.S384=	ENST00000355774	NM_001040108.1	384	tcC/tcA	0	1	1	UPI00001AEEE0	0		ENST00000355774		ENSG00000119684	7128		44			HGNC	p.S384S		MLH3		SNV			1				ENST00000355774	protein_coding			hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF7		S		T		1368/7896				H0YJA3_HUMAN,G3V3E0_HUMAN,G3V384_HUMAN			YES	MLH3,synonymous_variant,p.=,ENST00000355774,NM_001040108.1;MLH3,synonymous_variant,p.=,ENST00000238662,NM_014381.2;MLH3,synonymous_variant,p.=,ENST00000556740,;MLH3,synonymous_variant,p.=,ENST00000556257,;MLH3,5_prime_UTR_variant,,ENST00000380968,;MLH3,upstream_gene_variant,,ENST00000553713,;MLH3,upstream_gene_variant,,ENST00000544985,;ACYP1,downstream_gene_variant,,ENST00000555463,;ACYP1,downstream_gene_variant,,ENST00000357971,NM_203488.1;ACYP1,downstream_gene_variant,,ENST00000238618,NM_001107.3;MLH3,downstream_gene_variant,,ENST00000553263,;MLH3,downstream_gene_variant,,ENST00000557648,;ACYP1,downstream_gene_variant,,ENST00000555694,;MLH3,upstream_gene_variant,,ENST00000555671,;MLH3,upstream_gene_variant,,ENST00000555499,;MLH3,upstream_gene_variant,,ENST00000555144,;MLH3,upstream_gene_variant,,ENST00000556453,;							LOW	1152/4362		MLH3_HUMAN			Transcript			.	ENSP00000348020		CCDS32123.1			1	
CACNA1D	0	LGGM	GRCh37	3	53785816	53785816	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	94	4	.	.	ENST00000288139.4:c.3617G>T	p.Arg1206Leu	p.R1206L	ENST00000288139	NM_000720.3	1206	cGg/cTg	0	1		UPI000013DEF4	0	NA	ENST00000350061		ENSG00000157388	1391		98	2.995		HGNC	p.R879L		CACNA1D		SNV			1				ENST00000481478	protein_coding	getma.org/?cm=var&var=hg19,3,53785816,G,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF139		R/L		T	medium	4068/7636		getma.org/?cm=msa&ty=f&p=CAC1D_HUMAN&rb=1152&re=1238&var=R1186L	deleterious(0)					CACNA1D,missense_variant,p.Arg1206Leu,ENST00000288139,NM_000720.3;CACNA1D,missense_variant,p.Arg1186Leu,ENST00000350061,NM_001128840.2;CACNA1D,missense_variant,p.Arg1186Leu,ENST00000422281,NM_001128839.2;CACNA1D,missense_variant,p.Arg879Leu,ENST00000481478,;CACNA1D,missense_variant,p.Arg93Leu,ENST00000540742,;							MODERATE	3557/6486	R1186L	CAC1D_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000288133		CCDS46848.1			1	
TRPV1	0	LGGM	GRCh37	17	3477100	3477100	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	42	4	.	.	ENST00000571088.1:c.1930G>T	p.Gly644Cys	p.G644C	ENST00000571088	NM_018727.5	644	Ggc/Tgc	0	1		UPI00005B2E0C	0	NA	ENST00000399756		ENSG00000196689	12716		46	3.125		HGNC	p.G644C		TRPV1		SNV							ENST00000399759	protein_coding	getma.org/?cm=var&var=hg19,17,3477100,C,A&fts=all		Prints_domain:PR01768,hmmpanther:PTHR10582,hmmpanther:PTHR10582:SF17,TIGRFAM_domain:TIGR00870		G/C		A	medium	2457/4068		getma.org/?cm=msa&ty=f&p=TRPV1_HUMAN&rb=555&re=754&var=G644C	deleterious(0)	Q8IZY9_HUMAN				TRPV1,missense_variant,p.Gly642Cys,ENST00000174621,;SHPK,missense_variant,p.Gly644Cys,ENST00000572705,NM_080704.3;TRPV1,missense_variant,p.Gly644Cys,ENST00000571088,NM_018727.5;TRPV1,missense_variant,p.Gly644Cys,ENST00000399759,NM_080705.3;TRPV1,missense_variant,p.Gly644Cys,ENST00000399756,NM_080706.3;TRPV1,missense_variant,p.Gly655Cys,ENST00000425167,;TRPV1,missense_variant,p.Gly634Cys,ENST00000576351,;TRPV1,missense_variant,p.Gly584Cys,ENST00000310522,;RP11-235E17.3,downstream_gene_variant,,ENST00000573568,;TRPV1,non_coding_transcript_exon_variant,,ENST00000574085,;TRPV1,downstream_gene_variant,,ENST00000570742,;							MODERATE	1930/2520	G644C	TRPV1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000382659		CCDS45576.1			1	
CNKSR3	0	LGGM	GRCh37	6	154743736	154743736	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	43	4	.	.	ENST00000607772.1:c.849C>A	p.Thr283=	p.T283=	ENST00000607772	NM_173515.2	283	acC/acA	0	1	1	UPI000020D0EA	0		ENST00000607772		ENSG00000153721	23034		47			HGNC	p.T108T		CNKSR3		SNV							ENST00000433165	protein_coding			PROSITE_profiles:PS50106,hmmpanther:PTHR12844,hmmpanther:PTHR12844:SF19,Pfam_domain:PF00595,Gene3D:2.30.42.10,SMART_domains:SM00228,Superfamily_domains:SSF50156		T		T		1394/21063				C9JN62_HUMAN,C9IZX4_HUMAN			YES	CNKSR3,synonymous_variant,p.=,ENST00000607772,NM_173515.2;CNKSR3,synonymous_variant,p.=,ENST00000433165,;CNKSR3,synonymous_variant,p.=,ENST00000479339,;CNKSR3,synonymous_variant,p.=,ENST00000454664,;CNKSR3,synonymous_variant,p.=,ENST00000424998,;							LOW	849/1668		CNKR3_HUMAN			Transcript			.	ENSP00000475915		CCDS5246.1			1	
PRKAG3	0	LGGM	GRCh37	2	219694846	219694846	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	18	4	.	.	ENST00000529249.1:c.488C>A	p.Pro163Gln	p.P163Q	ENST00000529249		163	cCg/cAg	0	1		UPI0000043D98	0	NA	ENST00000233944		ENSG00000115592	9387		22	1.04		HGNC	p.P138Q	COSM373637	PRKAG3		SNV			1			1	ENST00000439262	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,219694846,G,T&fts=all		hmmpanther:PTHR13780,hmmpanther:PTHR13780:SF31		P/Q		T	low	534/2326		getma.org/?cm=msa&ty=f&p=AAKG3_HUMAN&rb=1&re=200&var=P163Q	deleterious(0.03)	B4DT70_HUMAN				PRKAG3,missense_variant,p.Pro138Gln,ENST00000439262,NM_017431.2;PRKAG3,missense_variant,p.Pro163Gln,ENST00000529249,;PRKAG3,missense_variant,p.Pro163Gln,ENST00000392098,;PRKAG3,5_prime_UTR_variant,,ENST00000545803,;PRKAG3,downstream_gene_variant,,ENST00000430489,;PRKAG3,missense_variant,p.Pro163Gln,ENST00000233944,;PRKAG3,missense_variant,p.Pro163Gln,ENST00000470307,;PRKAG3,non_coding_transcript_exon_variant,,ENST00000490971,;					1		MODERATE	488/1470	P163Q	AAKG3_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000233944		CCDS2424.1			1	
PRPF40B	0	LGGM	GRCh37	12	50028326	50028326	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	25	4	.	.	ENST00000548825.2:c.942C>A	p.Val314=	p.V314=	ENST00000548825	NM_001031698.2	314	gtC/gtA	0	1		UPI000034E5B3	0		ENST00000380281		ENSG00000110844	25031		29			HGNC	p.V286V		PRPF40B		SNV							ENST00000261897	protein_coding			Superfamily_domains:SSF81698,SMART_domains:SM00441,Gene3D:1uzcA00,Pfam_domain:PF01846,hmmpanther:PTHR11864,hmmpanther:PTHR11864:SF1,PROSITE_profiles:PS51676		V		A		940/3154								PRPF40B,synonymous_variant,p.=,ENST00000261897,;PRPF40B,synonymous_variant,p.=,ENST00000548825,NM_001031698.2;PRPF40B,synonymous_variant,p.=,ENST00000380281,;FMNL3,downstream_gene_variant,,ENST00000335154,NM_175736.4;PRPF40B,downstream_gene_variant,,ENST00000551063,;FMNL3,downstream_gene_variant,,ENST00000550668,;PRPF40B,non_coding_transcript_exon_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,;							LOW	876/2616		PR40B_HUMAN			Transcript			.	ENSP00000369634					1	
TRPS1	0	LGGM	GRCh37	8	116616150	116616150	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	42	4	.	.	ENST00000395715.3:c.2046C>A	p.Thr682=	p.T682=	ENST00000395715	NM_014112.2	682	acC/acA	0	1		UPI0000137646	0		ENST00000220888		ENSG00000104447	12340		46			HGNC	p.T669T		TRPS1		SNV			1				ENST00000519674	protein_coding			hmmpanther:PTHR10071,hmmpanther:PTHR10071:SF6,SMART_domains:SM00355		T		T		2167/5480								TRPS1,synonymous_variant,p.=,ENST00000395715,NM_014112.2,NM_001282903.1;TRPS1,synonymous_variant,p.=,ENST00000220888,;TRPS1,synonymous_variant,p.=,ENST00000520276,NM_001282902.1;TRPS1,synonymous_variant,p.=,ENST00000519076,;TRPS1,synonymous_variant,p.=,ENST00000519674,;TRPS1,synonymous_variant,p.=,ENST00000517323,;							LOW	2007/3846		TRPS1_HUMAN			Transcript			.	ENSP00000220888					1	
CYFIP2	0	LGGM	GRCh37	5	156746906	156746906	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	74	4	.	.	ENST00000521420.1:c.1415C>A	p.Ala472Glu	p.A472E	ENST00000521420		472	gCg/gAg	0	1	1	UPI0001D55E6B	0	getma.org/pdb.php?prot=CYFP2_HUMAN&from=384&to=1248&var=A498E	ENST00000521420		ENSG00000055163	13760		78	2.67		HGNC	p.A472E		CYFIP2		SNV							ENST00000521420	protein_coding	getma.org/?cm=var&var=hg19,5,156746906,C,A&fts=all		hmmpanther:PTHR12195,hmmpanther:PTHR12195:SF1,Pfam_domain:PF05994		A/E		A	medium	1506/6370		getma.org/?cm=msa&ty=f&p=CYFP2_HUMAN&rb=384&re=1248&var=A498E	deleterious(0)	E7EVJ5_HUMAN			YES	CYFIP2,missense_variant,p.Ala498Glu,ENST00000347377,NM_001037332.2;CYFIP2,missense_variant,p.Ala498Glu,ENST00000377576,NM_014376.2;CYFIP2,missense_variant,p.Ala498Glu,ENST00000318218,;CYFIP2,missense_variant,p.Ala472Glu,ENST00000521420,;CYFIP2,missense_variant,p.Ala423Glu,ENST00000541131,;CYFIP2,missense_variant,p.Ala172Glu,ENST00000435847,;CYFIP2,missense_variant,p.Ala302Glu,ENST00000522463,;CYFIP2,5_prime_UTR_variant,,ENST00000442283,NM_001037333.1;CYFIP2,upstream_gene_variant,,ENST00000520960,;CYFIP2,3_prime_UTR_variant,,ENST00000519153,;CYFIP2,3_prime_UTR_variant,,ENST00000523969,;CYFIP2,3_prime_UTR_variant,,ENST00000520759,;CYFIP2,3_prime_UTR_variant,,ENST00000517753,;CYFIP2,3_prime_UTR_variant,,ENST00000523119,;							MODERATE	1415/3684	A498E				Transcript		probably_damaging(0.984)	.	ENSP00000430904					1	
IRF8	0	LGGM	GRCh37	16	85942634	85942634	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	27	4	.	.	ENST00000268638.5:c.213C>A	p.Asp71Glu	p.D71E	ENST00000268638	NM_002163.2	71	gaC/gaA	0	1	1	UPI000012D188	0	getma.org/pdb.php?prot=IRF8_HUMAN&from=8&to=115&var=D71E	ENST00000268638		ENSG00000140968	5358	0.00566	31	2.465		HGNC	p.D71E	rs749156548,COSM1285579	IRF8	0.00189	SNV			1	0.00507		0,1	ENST00000268638	protein_coding	getma.org/?cm=var&var=hg19,16,85942634,C,A&fts=all		PROSITE_profiles:PS51507,hmmpanther:PTHR11949:SF7,hmmpanther:PTHR11949,Pfam_domain:PF00605,Gene3D:1.10.10.10,SMART_domains:SM00348,Superfamily_domains:SSF46785		D/E		A	medium	635/3030	0.00232	getma.org/?cm=msa&ty=f&p=IRF8_HUMAN&rb=8&re=115&var=D71E	deleterious(0.03)	H3BT31_HUMAN,H3BRT4_HUMAN,H3BQK3_HUMAN,H3BQH6_HUMAN,H3BPS5_HUMAN			YES	IRF8,missense_variant,p.Asp71Glu,ENST00000268638,NM_002163.2;IRF8,missense_variant,p.Asp14Glu,ENST00000566369,;IRF8,missense_variant,p.Asp71Glu,ENST00000563180,;IRF8,missense_variant,p.Asp71Glu,ENST00000564803,;IRF8,missense_variant,p.Asp71Glu,ENST00000564617,;IRF8,upstream_gene_variant,,ENST00000569145,;IRF8,non_coding_transcript_exon_variant,,ENST00000564056,;	0.00418				0,1		MODERATE	213/1281	D71E	IRF8_HUMAN	0.00294		Transcript		probably_damaging(0.997)	common_variant	ENSP00000268638	0.00339	CCDS10956.1			1	
NUBP2	0	LGGM	GRCh37	16	1836600	1836600	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	21	4	.	.	ENST00000262302.9:c.79G>T	p.Gly27Trp	p.G27W	ENST00000262302	NM_012225.2	27	Ggg/Tgg	0	1	1	UPI00001308A3	0	getma.org/pdb.php?prot=NUBP2_HUMAN&from=15&to=150&var=G27W	ENST00000262302		ENSG00000095906	8042		25	4.025		HGNC	p.G27W		NUBP2		SNV							ENST00000569898	protein_coding	getma.org/?cm=var&var=hg19,16,1836600,G,T&fts=all		Gene3D:3.40.50.300,HAMAP:MF_03039,Pfam_domain:PF13614,hmmpanther:PTHR23264,hmmpanther:PTHR23264:SF20,Superfamily_domains:SSF52540		G/W		T	high	199/1413		getma.org/?cm=msa&ty=f&p=NUBP2_HUMAN&rb=15&re=150&var=G27W	deleterious(0)	Q2YS46_HUMAN,H3BRE1_HUMAN,H3BQR2_HUMAN,B7Z6P0_HUMAN			YES	NUBP2,missense_variant,p.Gly27Trp,ENST00000262302,NM_012225.2;NUBP2,missense_variant,p.Gly115Trp,ENST00000568287,;NUBP2,missense_variant,p.Gly27Trp,ENST00000565134,;NUBP2,missense_variant,p.Gly27Trp,ENST00000563136,;NUBP2,5_prime_UTR_variant,,ENST00000565987,NM_001284501.1;NUBP2,5_prime_UTR_variant,,ENST00000543305,;NUBP2,5_prime_UTR_variant,,ENST00000568706,;NUBP2,5_prime_UTR_variant,,ENST00000562263,;SPSB3,intron_variant,,ENST00000569769,;IGFALS,downstream_gene_variant,,ENST00000415638,NM_001146006.1,NM_004970.2;IGFALS,downstream_gene_variant,,ENST00000215539,;SPSB3,upstream_gene_variant,,ENST00000566339,NM_080861.3;NUBP2,downstream_gene_variant,,ENST00000568610,;NUBP2,missense_variant,p.Gly27Trp,ENST00000568834,NM_001284502.1;NUBP2,missense_variant,p.Gly27Trp,ENST00000569898,;NUBP2,3_prime_UTR_variant,,ENST00000564227,;NUBP2,non_coding_transcript_exon_variant,,ENST00000563821,;NUBP2,non_coding_transcript_exon_variant,,ENST00000567700,;NUBP2,non_coding_transcript_exon_variant,,ENST00000565603,;NUBP2,non_coding_transcript_exon_variant,,ENST00000566090,;NUBP2,non_coding_transcript_exon_variant,,ENST00000566447,;EME2,downstream_gene_variant,,ENST00000561903,;SPSB3,upstream_gene_variant,,ENST00000564709,;SPSB3,upstream_gene_variant,,ENST00000569380,;SPSB3,upstream_gene_variant,,ENST00000563741,;SPSB3,upstream_gene_variant,,ENST00000567868,;SPSB3,upstream_gene_variant,,ENST00000565550,;SPSB3,upstream_gene_variant,,ENST00000563705,;SPSB3,upstream_gene_variant,,ENST00000564070,;SPSB3,upstream_gene_variant,,ENST00000568416,;							MODERATE	79/816	G27W	NUBP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262302		CCDS10445.1			1	
SCN1A	0	LGGM	GRCh37	2	166852548	166852548	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	57	4	.	.	ENST00000303395.4:c.4556C>A	p.Pro1519Gln	p.P1519Q	ENST00000303395		1519	cCg/cAg	0	1	1	UPI000003C71D	0	NA	ENST00000303395		ENSG00000144285	10585		61	4.13		HGNC	p.P1519Q	COSM226929	SCN1A		SNV			1			1	ENST00000303395	protein_coding	getma.org/?cm=var&var=hg19,2,166852548,G,T&fts=all		hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF133		P/Q		T	high	4556/8112		getma.org/?cm=msa&ty=f&p=SCN1A_HUMAN&rb=1483&re=1574&var=P1519Q	deleterious(0)	F8T7W7_HUMAN			YES	SCN1A,missense_variant,p.Pro1519Gln,ENST00000423058,NM_001165963.1,NM_001202435.1;SCN1A,missense_variant,p.Pro1519Gln,ENST00000303395,;SCN1A,missense_variant,p.Pro1508Gln,ENST00000375405,NM_001165964.1,NM_006920.4;SCN1A,missense_variant,p.Pro1491Gln,ENST00000409050,;AC010127.3,intron_variant,,ENST00000595647,;AC010127.3,intron_variant,,ENST00000597623,;SCN1A,downstream_gene_variant,,ENST00000473295,;SCN1A,downstream_gene_variant,,ENST00000491429,;					1		MODERATE	4556/6030	P1519Q	SCN1A_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000303540		CCDS54413.1			1	
RAB3GAP2	0	LGGM	GRCh37	1	220368508	220368508	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	92	5	.	.	ENST00000358951.2:c.1042G>T	p.Gly348Cys	p.G348C	ENST00000358951	NM_012414.3	348	Ggt/Tgt	0	1	1	UPI0000072269	0	NA	ENST00000358951		ENSG00000118873	17168		97	1.67		HGNC	p.G348C		RAB3GAP2		SNV			1				ENST00000358951	protein_coding	getma.org/?cm=var&var=hg19,1,220368508,C,A&fts=all		Pfam_domain:PF14655,hmmpanther:PTHR12472		G/C		A	low	1159/7257		getma.org/?cm=msa&ty=f&p=RBGPR_HUMAN&rb=1&re=1390&var=G348C	deleterious(0.01)				YES	RAB3GAP2,missense_variant,p.Gly348Cys,ENST00000358951,NM_012414.3;RAB3GAP2,intron_variant,,ENST00000478976,;RAB3GAP2,downstream_gene_variant,,ENST00000237724,;							MODERATE	1042/4182	G348C	RBGPR_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000351832		CCDS31028.1			1	
ROR1	0	LGGM	GRCh37	1	64608124	64608124	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	52	5	.	.	ENST00000371079.1:c.965G>T	p.Arg322Leu	p.R322L	ENST00000371079	NM_005012.3	322	cGg/cTg	0	1	1	UPI00001AF82C	0	getma.org/pdb.php?prot=ROR1_HUMAN&from=313&to=391&var=R322L	ENST00000371079		ENSG00000185483	10256		57	3.335		HGNC	p.R322L		ROR1		SNV							ENST00000371080	protein_coding	getma.org/?cm=var&var=hg19,1,64608124,G,T&fts=all		Gene3D:2.40.20.10,Pfam_domain:PF00051,PIRSF_domain:PIRSF000624,Prints_domain:PR00018,PROSITE_profiles:PS50070,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132,SMART_domains:SM00130,Superfamily_domains:SSF57440		R/L		T	medium	1340/5832		getma.org/?cm=msa&ty=f&p=ROR1_HUMAN&rb=313&re=391&var=R322L	deleterious(0)				YES	ROR1,missense_variant,p.Arg322Leu,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Arg322Leu,ENST00000371080,NM_001083592.1;ROR1,5_prime_UTR_variant,,ENST00000545203,;RP11-24J23.2,intron_variant,,ENST00000424995,;ROR1,downstream_gene_variant,,ENST00000482426,;							MODERATE	965/2814	R322L	ROR1_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000360120		CCDS626.1			1	
GLB1L2	0	LGGM	GRCh37	11	134244500	134244500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	71	5	.	.	ENST00000535456.2:c.1712G>T	p.Trp571Leu	p.W571L	ENST00000535456	NM_138342.3	571	tGg/tTg	0	1		UPI0000074534	0	getma.org/pdb.php?prot=GLBL2_HUMAN&from=569&to=636&var=W571L	ENST00000339772		ENSG00000149328	25129		76	1.85		HGNC	p.W571L		GLB1L2		SNV							ENST00000339772	protein_coding	getma.org/?cm=var&var=hg19,11,134244500,G,T&fts=all		Gene3D:2.60.120.260,PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF53,Superfamily_domains:SSF49785		W/L		T	low	1900/3152		getma.org/?cm=msa&ty=f&p=GLBL2_HUMAN&rb=569&re=636&var=W571L	deleterious(0)	Q8NCG3_HUMAN				GLB1L2,missense_variant,p.Trp571Leu,ENST00000535456,NM_138342.3;GLB1L2,missense_variant,p.Trp571Leu,ENST00000389881,;GLB1L2,missense_variant,p.Trp571Leu,ENST00000339772,;GLB1L2,missense_variant,p.Trp510Leu,ENST00000525089,;B3GAT1,downstream_gene_variant,,ENST00000312527,NM_054025.2;B3GAT1,downstream_gene_variant,,ENST00000392580,NM_018644.3;GLB1L2,downstream_gene_variant,,ENST00000533324,;GLB1L2,non_coding_transcript_exon_variant,,ENST00000529077,;GLB1L2,downstream_gene_variant,,ENST00000533355,;B3GAT1,downstream_gene_variant,,ENST00000531778,;							MODERATE	1712/1911	W571L	GLBL2_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000344659		CCDS31724.1			1	
PKD1L1	0	LGGM	GRCh37	7	47898372	47898372	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	36	5	.	.	ENST00000289672.2:c.4261G>T	p.Gly1421Cys	p.G1421C	ENST00000289672	NM_138295.3	1421	Ggt/Tgt	0	1	1	UPI0000130FA9	0	NA	ENST00000289672		ENSG00000158683	18053		41	0.69		HGNC	p.G1421C		PKD1L1		SNV							ENST00000289672	protein_coding	getma.org/?cm=var&var=hg19,7,47898372,C,A&fts=all		PROSITE_profiles:PS51111,hmmpanther:PTHR10877,hmmpanther:PTHR10877:SF32		G/C		A	neutral	4312/9092		getma.org/?cm=msa&ty=f&p=PK1L1_HUMAN&rb=674&re=1571&var=G1421C	tolerated(0.12)				YES	PKD1L1,missense_variant,p.Gly1421Cys,ENST00000289672,NM_138295.3;HUS1,intron_variant,,ENST00000436444,;							MODERATE	4261/8550	G1421C	PK1L1_HUMAN			Transcript		benign(0.006)	.	ENSP00000289672		CCDS34633.1			1	
MYO9A	0	LGGM	GRCh37	15	72191186	72191186	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	103	5	.	.	ENST00000356056.5:c.3658C>A	p.Arg1220Ser	p.R1220S	ENST00000356056	NM_006901.3	1220	Cgt/Agt	0	1	1	UPI000013D213	0	NA	ENST00000356056		ENSG00000066933	7608		108	0.345		HGNC	p.R1220S		MYO9A		SNV							ENST00000424560	protein_coding	getma.org/?cm=var&var=hg19,15,72191186,G,T&fts=all		hmmpanther:PTHR13140:SF9,hmmpanther:PTHR13140		R/S		T	neutral	4131/12409		getma.org/?cm=msa&ty=f&p=MYO9A_HUMAN&rb=1189&re=1237&var=R1220S	tolerated_low_confidence(0.68)	H3BSU8_HUMAN,H3BMS3_HUMAN			YES	MYO9A,missense_variant,p.Arg1220Ser,ENST00000356056,NM_006901.3;MYO9A,missense_variant,p.Arg1220Ser,ENST00000424560,;MYO9A,missense_variant,p.Arg1201Ser,ENST00000444904,;MYO9A,missense_variant,p.Arg1220Ser,ENST00000564571,;MYO9A,missense_variant,p.Arg840Ser,ENST00000566885,;MYO9A,upstream_gene_variant,,ENST00000561618,;MYO9A,non_coding_transcript_exon_variant,,ENST00000563542,;MYO9A,upstream_gene_variant,,ENST00000568781,;							MODERATE	3658/7647	R1220S	MYO9A_HUMAN			Transcript		benign(0.003)	.	ENSP00000348349		CCDS10239.1			1	
XRRA1	0	LGGM	GRCh37	11	74617327	74617327	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	82	5	.	.	ENST00000340360.6:c.936G>T	p.Leu312=	p.L312=	ENST00000340360	NM_182969.2	312	ctG/ctT	0	1	1	UPI0001572CC6	0		ENST00000340360		ENSG00000166435	18868		87			HGNC	p.L312L		XRRA1		SNV							ENST00000340360	protein_coding			hmmpanther:PTHR22710		L		A		1268/5681				E9PJ58_HUMAN			YES	XRRA1,synonymous_variant,p.=,ENST00000340360,NM_182969.2;XRRA1,synonymous_variant,p.=,ENST00000321448,NM_001270381.1;XRRA1,synonymous_variant,p.=,ENST00000527087,NM_001270380.1;XRRA1,downstream_gene_variant,,ENST00000528219,;XRRA1,downstream_gene_variant,,ENST00000525407,;XRRA1,downstream_gene_variant,,ENST00000531852,;XRRA1,non_coding_transcript_exon_variant,,ENST00000528819,;RP11-147I3.1,intron_variant,,ENST00000533875,;XRRA1,downstream_gene_variant,,ENST00000533598,;XRRA1,synonymous_variant,p.=,ENST00000531849,;XRRA1,synonymous_variant,p.=,ENST00000531449,;XRRA1,non_coding_transcript_exon_variant,,ENST00000529926,;XRRA1,intron_variant,,ENST00000530562,;XRRA1,downstream_gene_variant,,ENST00000526047,;							LOW	936/2379		XRRA1_HUMAN			Transcript			.	ENSP00000339918		CCDS44680.1			1	
ZNF106	0	LGGM	GRCh37	15	42749337	42749337	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112290	H112290N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	71	5	.	.	ENST00000263805.4:c.67C>A	p.Arg23=	p.R23=	ENST00000263805	NM_022473.1	23	Cga/Aga	0	1	1	UPI000006D6CC	0		ENST00000263805		ENSG00000103994	12886		76			HGNC	p.R23R		ZNF106		SNV							ENST00000263805	protein_coding			hmmpanther:PTHR14435,SMART_domains:SM00355		R		T		394/10460				H3BNX5_HUMAN			YES	ZNF106,synonymous_variant,p.=,ENST00000263805,NM_022473.1;ZNF106,synonymous_variant,p.=,ENST00000564754,;ZNF106,synonymous_variant,p.=,ENST00000567041,;ZNF106,intron_variant,,ENST00000565380,NM_001284307.1;ZNF106,intron_variant,,ENST00000565611,NM_001284306.1;ZNF106,intron_variant,,ENST00000565948,;							LOW	67/5652		ZN106_HUMAN			Transcript			.	ENSP00000263805		CCDS32208.1			1	
PEX3	0	LGGM	GRCh37	6	143806327	143806327	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	78	5	.	.	ENST00000367591.4:c.980C>A	p.Pro327Gln	p.P327Q	ENST00000367591	NM_003630.2	327	cCa/cAa	0	1	1	UPI00001316E1	0	getma.org/pdb.php?prot=PEX3_HUMAN&from=94&to=365&var=P327Q	ENST00000367591		ENSG00000034693	8858		83	2.58		HGNC	p.P327Q		PEX3		SNV			1				ENST00000367591	protein_coding	getma.org/?cm=var&var=hg19,6,143806327,C,A&fts=all		Pfam_domain:PF04882		P/Q		A	medium	1043/1969		getma.org/?cm=msa&ty=f&p=PEX3_HUMAN&rb=94&re=365&var=P327Q	deleterious(0)				YES	PEX3,missense_variant,p.Pro327Gln,ENST00000367591,NM_003630.2;RP1-20N2.6,non_coding_transcript_exon_variant,,ENST00000591892,;PEX3,non_coding_transcript_exon_variant,,ENST00000585848,;							MODERATE	980/1122	P327Q	PEX3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000356563		CCDS5199.1			1	
DNAAF1	0	LGGM	GRCh37	16	84188301	84188301	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112290	H112290N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	47	5	.	.	ENST00000378553.5:c.472T>C	p.Leu158=	p.L158=	ENST00000378553	NM_178452.4	158	Ttg/Ctg	0	1	1	UPI000059D3C9	0		ENST00000378553		ENSG00000154099	30539		52			HGNC	p.L158L		DNAAF1		SNV			1				ENST00000378553	protein_coding			Superfamily_domains:0046394,SMART_domains:SM00365,Gene3D:3.80.10.10,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF208,PROSITE_profiles:PS51450		L		C		596/2379				H3BP51_HUMAN			YES	DNAAF1,synonymous_variant,p.=,ENST00000378553,NM_178452.4;DNAAF1,synonymous_variant,p.=,ENST00000334315,;DNAAF1,upstream_gene_variant,,ENST00000563818,;DNAAF1,upstream_gene_variant,,ENST00000567666,;DNAAF1,synonymous_variant,p.=,ENST00000563093,;DNAAF1,synonymous_variant,p.=,ENST00000567918,;DNAAF1,non_coding_transcript_exon_variant,,ENST00000570298,;							LOW	472/2178		DAAF1_HUMAN			Transcript			.	ENSP00000367815		CCDS10943.2			1	
TRIM49	0	LGGM	GRCh37	11	89531612	89531612	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112290	H112290N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112290N.bam, H112290T.bam	Illumina HiSeq	74	9	.	.	ENST00000329758.1:c.1045G>A	p.Asp349Asn	p.D349N	ENST00000329758	NM_020358.2	349	Gac/Aac	0	1	1	UPI000013431B	0	getma.org/pdb.php?prot=TRI49_HUMAN&from=338&to=451&var=D349N	ENST00000329758		ENSG00000168930	13431		83	1.67		HGNC	p.D272N	rs757957148	TRIM49		SNV							ENST00000532501	protein_coding	getma.org/?cm=var&var=hg19,11,89531612,C,T&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		D/N		T	low	1374/2163	1.53E-05	getma.org/?cm=msa&ty=f&p=TRI49_HUMAN&rb=338&re=451&var=D349N	tolerated(0.37)	I1YAQ5_HUMAN			YES	TRIM49,missense_variant,p.Asp349Asn,ENST00000329758,NM_020358.2;TRIM49,missense_variant,p.Asp272Asn,ENST00000532501,;	0.00174						MODERATE	1045/1359	D349N	TRI49_HUMAN			Transcript		benign(0.047)	common_variant	ENSP00000327604	0.000132	CCDS8287.1			1	
PTPRS	0	LGGM	GRCh37	19	5244429	5244429	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	10	2	.	.	ENST00000357368.4:c.1053G>T	p.Thr351=	p.T351=	ENST00000357368	NM_002850.3	351	acG/acT	0	1	1	UPI000059D63E	0		ENST00000357368		ENSG00000105426	9681		12			HGNC	p.T351T		PTPRS		SNV							ENST00000587303	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF204,SMART_domains:SM00060,Superfamily_domains:SSF49265		T		A		1287/7347				K7ESP0_HUMAN,K7ERX4_HUMAN			YES	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,;							LOW	1053/5847		PTPRS_HUMAN			Transcript			.	ENSP00000349932		CCDS45930.1			1	
SLC12A5	0	LGGM	GRCh37	20	44674622	44674622	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	40	3	.	.	ENST00000454036.2:c.1744C>A	p.Pro582Thr	p.P582T	ENST00000454036	NM_001134771.1	582	Ccc/Acc	0	1	1	UPI00015F4605	0	getma.org/pdb.php?prot=S12A5_HUMAN&from=412&to=699&var=P582T	ENST00000454036		ENSG00000124140	13818		43	2.435		HGNC	p.P582T		SLC12A5		SNV							ENST00000454036	protein_coding	getma.org/?cm=var&var=hg19,20,44674622,C,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11827:SF54,hmmpanther:PTHR11827,Pfam_domain:PF00324,TIGRFAM_domain:TIGR00930		P/T		A	medium	1793/3566		getma.org/?cm=msa&ty=f&p=S12A5_HUMAN&rb=412&re=699&var=P582T	deleterious(0)	B7Z3I0_HUMAN			YES	SLC12A5,missense_variant,p.Pro559Thr,ENST00000243964,NM_020708.4;SLC12A5,missense_variant,p.Pro582Thr,ENST00000454036,NM_001134771.1;SLC12A5,downstream_gene_variant,,ENST00000372315,;SLC12A5,downstream_gene_variant,,ENST00000608594,;SLC12A5,3_prime_UTR_variant,,ENST00000539566,;							MODERATE	1744/3420	P582T	S12A5_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000387694		CCDS46610.1			1	
TMCO4	0	LGGM	GRCh37	1	20072989	20072989	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	5	3	.	.	ENST00000294543.6:c.717C>T	p.Ile239=	p.I239=	ENST00000294543	NM_181719.4	239	atC/atT	0	1	1	UPI0000197EC6	0		ENST00000294543		ENSG00000162542	27393		8			HGNC	p.I239I		TMCO4		SNV							ENST00000294543	protein_coding			Pfam_domain:PF05277,hmmpanther:PTHR17920,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		I		A		959/2974				Q6ZSC6_HUMAN			YES	TMCO4,synonymous_variant,p.=,ENST00000294543,NM_181719.4;TMCO4,synonymous_variant,p.=,ENST00000375122,;TMCO4,synonymous_variant,p.=,ENST00000375127,;TMCO4,non_coding_transcript_exon_variant,,ENST00000489135,;TMCO4,downstream_gene_variant,,ENST00000496528,;TMCO4,downstream_gene_variant,,ENST00000462171,;							LOW	717/1905		TMCO4_HUMAN			Transcript			.	ENSP00000294543		CCDS198.1			1	
PXDNL	0	LGGM	GRCh37	8	52321703	52321703	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	2	3	.	.	ENST00000356297.4:c.2481G>C	p.Ser827=	p.S827=	ENST00000356297	NM_144651.4	827	tcG/tcC	0	1	1	UPI0001AE6ED6	0		ENST00000356297		ENSG00000147485	26359		5			HGNC	p.S93S		PXDNL		SNV							ENST00000522628	protein_coding			PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF38,hmmpanther:PTHR11475,Pfam_domain:PF03098,Superfamily_domains:SSF48113		S		G		2582/4805							YES	PXDNL,synonymous_variant,p.=,ENST00000356297,NM_144651.4;PXDNL,synonymous_variant,p.=,ENST00000543296,;PXDNL,upstream_gene_variant,,ENST00000522933,;PXDNL,synonymous_variant,p.=,ENST00000522628,;							LOW	2481/4392		PXDNL_HUMAN			Transcript			.	ENSP00000348645		CCDS47855.1			1	
CTSG	0	LGGM	GRCh37	14	25043994	25043994	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	24	3	.	.	ENST00000216336.2:c.226G>T	p.Ala76Ser	p.A76S	ENST00000216336	NM_001911.2	76	Gcc/Tcc	0	1	1	UPI00001270AC	0	getma.org/pdb.php?prot=CATG_HUMAN&from=21&to=238&var=A76S	ENST00000216336		ENSG00000100448	2532		27	1.235		HGNC	p.A76S		CTSG		SNV							ENST00000216336	protein_coding	getma.org/?cm=var&var=hg19,14,25043994,C,A&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF13,SMART_domains:SM00020,Superfamily_domains:SSF50494		A/S		A	low	263/886		getma.org/?cm=msa&ty=f&p=CATG_HUMAN&rb=21&re=238&var=A76S	deleterious(0.01)				YES	CTSG,missense_variant,p.Ala76Ser,ENST00000216336,NM_001911.2;CTSG,non_coding_transcript_exon_variant,,ENST00000552252,;							MODERATE	226/768	A76S	CATG_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000216336		CCDS9631.1			1	
STK11IP	0	LGGM	GRCh37	2	220476402	220476402	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	40	3	.	.	ENST00000295641.10:c.2214G>T	p.Arg738Ser	p.R738S	ENST00000295641	NM_052902.2	738	agG/agT	0	1	1	UPI0001AE7798	0	NA	ENST00000295641		ENSG00000144589	19184		43	1.245		HGNC	p.R738S		STK11IP		SNV							ENST00000295641	protein_coding	getma.org/?cm=var&var=hg19,2,220476402,G,T&fts=all		hmmpanther:PTHR15454,hmmpanther:PTHR15454:SF16		R/S		T	low	2257/3601		getma.org/?cm=msa&ty=f&p=S11IP_HUMAN&rb=411&re=1098&var=R738S	tolerated(0.49)	C9JQV3_HUMAN			YES	STK11IP,missense_variant,p.Arg727Ser,ENST00000456909,;STK11IP,missense_variant,p.Arg738Ser,ENST00000295641,NM_052902.2;STK11IP,upstream_gene_variant,,ENST00000447191,;STK11IP,downstream_gene_variant,,ENST00000483319,;STK11IP,downstream_gene_variant,,ENST00000475396,;STK11IP,upstream_gene_variant,,ENST00000413891,;STK11IP,upstream_gene_variant,,ENST00000494777,;STK11IP,upstream_gene_variant,,ENST00000495941,;STK11IP,downstream_gene_variant,,ENST00000473899,;STK11IP,downstream_gene_variant,,ENST00000466648,;							MODERATE	2214/3300	R738S	S11IP_HUMAN			Transcript		benign(0.059)	.	ENSP00000295641		CCDS46521.1			1	
IFT122	0	LGGM	GRCh37	3	129239070	129239070	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	4	3	.	.	ENST00000296266.3:c.3841C>T	p.Pro1281Ser	p.P1281S	ENST00000296266	NM_052985.3	1281	Ccc/Tcc	0	1		UPI000006E33C	0	NA	ENST00000348417		ENSG00000163913	13556		7	2.805		HGNC	p.P1223S		IFT122		SNV			1				ENST00000507564	protein_coding	getma.org/?cm=var&var=hg19,3,129239070,C,T&fts=all		hmmpanther:PTHR12764:SF4,hmmpanther:PTHR12764		P/S		T	medium	3765/3877		getma.org/?cm=msa&ty=f&p=IF122_HUMAN&rb=1150&re=1241&var=P1230S	deleterious(0)	Q7L8K0_HUMAN,H7C3C0_HUMAN				IFT122,missense_variant,p.Pro1281Ser,ENST00000296266,NM_052985.3;IFT122,missense_variant,p.Pro1080Ser,ENST00000431818,NM_001280545.1;IFT122,missense_variant,p.Pro1230Ser,ENST00000348417,NM_052989.2;IFT122,missense_variant,p.Pro1171Ser,ENST00000347300,NM_018262.3;IFT122,missense_variant,p.Pro1223Ser,ENST00000507564,NM_001280541.1;IFT122,missense_variant,p.Pro1120Ser,ENST00000349441,NM_052990.2;IFT122,missense_variant,p.Pro1021Ser,ENST00000440957,NM_001280546.1;IFT122,missense_variant,p.Pro1107Ser,ENST00000504021,;IFT122,3_prime_UTR_variant,,ENST00000512220,;IFT122,non_coding_transcript_exon_variant,,ENST00000506507,;IFT122,non_coding_transcript_exon_variant,,ENST00000513190,;IFT122,non_coding_transcript_exon_variant,,ENST00000511425,;							MODERATE	3688/3726	P1230S	IF122_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000324005		CCDS3061.1			1	
RAB33B	0	LGGM	GRCh37	4	140375377	140375377	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	3	3	.	.	ENST00000305626.5:c.28G>A	p.Glu10Lys	p.E10K	ENST00000305626	NM_031296.1	10	Gag/Aag	0	1	1	UPI000000123D	0	NA	ENST00000305626		ENSG00000172007	16075		6	0		HGNC	p.E10K	rs748593700	RAB33B	6.35E-05	SNV			1				ENST00000305626	protein_coding	getma.org/?cm=var&var=hg19,4,140375377,G,A&fts=all		Low_complexity_(Seg):seg		E/K		A	neutral	417/4562		getma.org/?cm=msa&ty=f&p=RB33B_HUMAN&rb=1&re=34&var=E10K	deleterious_low_confidence(0.03)				YES	RAB33B,missense_variant,p.Glu10Lys,ENST00000305626,NM_031296.1;RP11-83A24.2,upstream_gene_variant,,ENST00000610159,;RP11-83A24.2,upstream_gene_variant,,ENST00000608661,;RP11-83A24.2,upstream_gene_variant,,ENST00000609359,;RP11-83A24.2,upstream_gene_variant,,ENST00000608663,;RAB33B,non_coding_transcript_exon_variant,,ENST00000507271,;							MODERATE	28/690	E10K	RB33B_HUMAN			Transcript		unknown(0)	.	ENSP00000306496	8.24E-06	CCDS3747.1			1	
ZC3H12A	0	LGGM	GRCh37	1	37948477	37948477	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	29	3	.	.	ENST00000373087.6:c.1065C>T	p.Gly355=	p.G355=	ENST00000373087	NM_025079.2	355	ggC/ggT	0	1	1	UPI000004D30E	0		ENST00000373087		ENSG00000163874	26259		32			HGNC	p.G355G		ZC3H12A		SNV							ENST00000373087	protein_coding			hmmpanther:PTHR12876:SF10,hmmpanther:PTHR12876		G		T		1181/2684				C0LED9_HUMAN			YES	ZC3H12A,synonymous_variant,p.=,ENST00000373087,NM_025079.2;ZC3H12A,downstream_gene_variant,,ENST00000471012,;ZC3H12A,downstream_gene_variant,,ENST00000472312,;							LOW	1065/1800		ZC12A_HUMAN			Transcript			.	ENSP00000362179		CCDS417.1			1	
ALAS1	0	LGGM	GRCh37	3	52237940	52237940	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	41	3	.	.	ENST00000394965.2:c.489C>A	p.Pro163=	p.P163=	ENST00000394965	NM_000688.5	163	ccC/ccA	0	1		UPI0000001230	0		ENST00000310271		ENSG00000023330	396		44			HGNC	p.P163P		ALAS1		SNV							ENST00000469224	protein_coding			hmmpanther:PTHR13693,hmmpanther:PTHR13693:SF50		P		A		634/2212				Q5JAM2_HUMAN				ALAS1,synonymous_variant,p.=,ENST00000394965,NM_000688.5;ALAS1,synonymous_variant,p.=,ENST00000484952,;ALAS1,synonymous_variant,p.=,ENST00000310271,NM_199166.2;ALAS1,synonymous_variant,p.=,ENST00000469224,;ALAS1,upstream_gene_variant,,ENST00000493402,;							LOW	489/1923		HEM1_HUMAN			Transcript			.	ENSP00000309259		CCDS2847.1			1	
KDSR	0	LGGM	GRCh37	18	61026975	61026975	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	35	3	.	.	ENST00000406396.3:c.249C>A	p.Asp83Glu	p.D83E	ENST00000406396	NM_002035.2	83	gaC/gaA	0	1	1	UPI000004C798	0	getma.org/pdb.php?prot=KDSR_HUMAN&from=33&to=205&var=D83E	ENST00000406396		ENSG00000119537	4021		38	-0.125		HGNC	p.D83E		KDSR		SNV							ENST00000406396	protein_coding	getma.org/?cm=var&var=hg19,18,61026975,G,T&fts=all		Superfamily_domains:SSF51735,PIRSF_domain:PIRSF000126,Gene3D:3.40.50.720,Pfam_domain:PF00106,hmmpanther:PTHR24320:SF1,hmmpanther:PTHR24320		D/E		T	neutral	641/5447		getma.org/?cm=msa&ty=f&p=KDSR_HUMAN&rb=33&re=205&var=D83E	tolerated(0.28)				YES	KDSR,missense_variant,p.Asp83Glu,ENST00000406396,NM_002035.2;KDSR,missense_variant,p.Asp83Glu,ENST00000326575,;KDSR,missense_variant,p.Asp83Glu,ENST00000592327,;KDSR,upstream_gene_variant,,ENST00000591902,;KDSR,downstream_gene_variant,,ENST00000587292,;KDSR,non_coding_transcript_exon_variant,,ENST00000589530,;KDSR,non_coding_transcript_exon_variant,,ENST00000585456,;KDSR,upstream_gene_variant,,ENST00000585750,;							MODERATE	249/999	D83E	KDSR_HUMAN			Transcript		benign(0.023)	.	ENSP00000385083		CCDS11982.1			1	
DUSP28	0	LGGM	GRCh37	2	241500763	241500763	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	15	3	.	.	ENST00000405954.1:c.410G>A	p.Arg137His	p.R137H	ENST00000405954		137	cGc/cAc	0	1		UPI00000413AA	0	getma.org/pdb.php?prot=DUS28_HUMAN&from=26&to=156&var=R137H	ENST00000343217		ENSG00000188542	33237		18	3.14		HGNC	p.R137H		DUSP28		SNV							ENST00000405954	protein_coding	getma.org/?cm=var&var=hg19,2,241500763,G,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS50054,PROSITE_profiles:PS50056,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF116,SMART_domains:SM00195,Superfamily_domains:SSF52799		R/H		A	medium	1041/1555		getma.org/?cm=msa&ty=f&p=DUS28_HUMAN&rb=26&re=156&var=R137H	deleterious(0)					DUSP28,missense_variant,p.Arg137His,ENST00000405954,;DUSP28,missense_variant,p.Arg137His,ENST00000343217,NM_001033575.1;ANKMY1,intron_variant,,ENST00000418708,;ANKMY1,intron_variant,,ENST00000418505,;ANKMY1,upstream_gene_variant,,ENST00000391987,;ANKMY1,upstream_gene_variant,,ENST00000405002,;ANKMY1,upstream_gene_variant,,ENST00000401804,NM_001282771.1;ANKMY1,upstream_gene_variant,,ENST00000272972,NM_016552.2;ANKMY1,upstream_gene_variant,,ENST00000403283,;ANKMY1,upstream_gene_variant,,ENST00000373320,;ANKMY1,upstream_gene_variant,,ENST00000361678,NM_017844.2;ANKMY1,upstream_gene_variant,,ENST00000373318,NM_001282780.1;ANKMY1,upstream_gene_variant,,ENST00000406958,NM_001282781.1;ANKMY1,upstream_gene_variant,,ENST00000405523,;ANKMY1,upstream_gene_variant,,ENST00000536462,;ANKMY1,upstream_gene_variant,,ENST00000411765,;ANKMY1,upstream_gene_variant,,ENST00000443318,;ANKMY1,upstream_gene_variant,,ENST00000441168,;RNPEPL1,upstream_gene_variant,,ENST00000451363,;ANKMY1,upstream_gene_variant,,ENST00000462004,;DUSP28,upstream_gene_variant,,ENST00000497221,;DUSP28,upstream_gene_variant,,ENST00000479788,;DUSP28,missense_variant,p.Arg102His,ENST00000438823,;ANKMY1,non_coding_transcript_exon_variant,,ENST00000464991,;ANKMY1,upstream_gene_variant,,ENST00000484526,;ANKMY1,upstream_gene_variant,,ENST00000496300,;ANKMY1,upstream_gene_variant,,ENST00000477316,;							MODERATE	410/531	R137H	DUS28_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000344235		CCDS33418.1			1	
RYR1	0	LGGM	GRCh37	19	38949872	38949872	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	5	4	.	.	ENST00000359596.3:c.2254C>T	p.Pro752Ser	p.P752S	ENST00000359596		752	Ccg/Tcg	0	1	1	UPI0000D7E62F	0	NA	ENST00000359596		ENSG00000196218	10483		9	2.19		HGNC	p.P752S		RYR1		SNV			1				ENST00000355481	protein_coding	getma.org/?cm=var&var=hg19,19,38949872,C,T&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF15,SMART_domains:SM00449,Superfamily_domains:SSF49899		P/S		T	medium	2254/15117		getma.org/?cm=msa&ty=f&p=RYR1_HUMAN&rb=658&re=796&var=P752S		O75591_HUMAN,B4DET7_HUMAN			YES	RYR1,missense_variant,p.Pro752Ser,ENST00000355481,NM_000540.2,NM_001042723.1;RYR1,missense_variant,p.Pro752Ser,ENST00000360985,;RYR1,missense_variant,p.Pro752Ser,ENST00000359596,;							MODERATE	2254/15117	P752S	RYR1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000352608		CCDS33011.1			1	
POMC	0	LGGM	GRCh37	2	25384039	25384039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	6	4	.	.	ENST00000405623.1:c.715G>A	p.Gly239Ser	p.G239S	ENST00000405623		239	Ggt/Agt	0	1		UPI0000127E5B	0	NA	ENST00000264708		ENSG00000115138	9201		10	2.94		HGNC	p.G239S		POMC		SNV			1				ENST00000405623	protein_coding	getma.org/?cm=var&var=hg19,2,25384039,C,T&fts=all		Pfam_domain:PF08035,Prints_domain:PR00383,hmmpanther:PTHR11416		G/S		T	medium	889/1074		getma.org/?cm=msa&ty=f&p=COLI_HUMAN&rb=217&re=267&var=G239S	deleterious(0)	Q53WY7_HUMAN,K7R2J5_HUMAN,K7R2I7_HUMAN,K7QZC9_HUMAN,K7QZC2_HUMAN,K7QX47_HUMAN,E9PHK5_HUMAN,A6XND7_HUMAN				POMC,missense_variant,p.Gly239Ser,ENST00000405623,;POMC,missense_variant,p.Gly239Ser,ENST00000380794,NM_001035256.1;POMC,missense_variant,p.Gly239Ser,ENST00000264708,;POMC,missense_variant,p.Gly239Ser,ENST00000395826,;POMC,missense_variant,p.Gly239Ser,ENST00000449220,;RP11-509E16.1,downstream_gene_variant,,ENST00000567599,;							MODERATE	715/804	G239S	COLI_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264708		CCDS1717.1			1	
OTOG	0	LGGM	GRCh37	11	17632597	17632597	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	9	4	.	.	ENST00000399391.2:c.5786T>A	p.Val1929Glu	p.V1929E	ENST00000399391	NM_001277269.1	1929	gTg/gAg	0	1	1	UPI0001662628	0	NA	ENST00000399391		ENSG00000188162	8516		13	2.24		HGNC	p.V1929E		OTOG		SNV			1				ENST00000399391	protein_coding	getma.org/?cm=var&var=hg19,11,17632597,T,A&fts=all		hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339		V/E		A	medium	5786/8778		getma.org/?cm=msa&ty=f&p=OTOG_HUMAN&rb=1798&re=1997&var=V1929E		H9KVB3_HUMAN			YES	OTOG,missense_variant,p.Val1856Glu,ENST00000399397,;OTOG,missense_variant,p.Val1929Glu,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Val935Glu,ENST00000342528,;							MODERATE	5786/8778	V1929E	OTOG_HUMAN			Transcript		benign(0.007)	.	ENSP00000382323		CCDS59225.1			1	
TOP3B	0	LGGM	GRCh37	22	22316751	22316751	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	3	4	.	.	ENST00000398793.2:c.1525+50G>C		*509*	ENST00000398793	NM_003935.3			0	1		UPI00001371A1	0		ENST00000357179		ENSG00000100038	11993		7			HGNC	p.Q254H		TOP3B		SNV							ENST00000413067	protein_coding							G		-/2863				C9JTQ7_HUMAN,C9JT00_HUMAN,C9JKE2_HUMAN,C9JHR0_HUMAN,C9JEQ1_HUMAN,C9JEI7_HUMAN,C9J9X4_HUMAN				TOP3B,missense_variant,p.Gln254His,ENST00000413067,;TOP3B,intron_variant,,ENST00000398793,NM_003935.3;TOP3B,intron_variant,,ENST00000457270,;TOP3B,intron_variant,,ENST00000357179,NM_001282113.1,NM_001282112.1;TOP3B,non_coding_transcript_exon_variant,,ENST00000470338,;TOP3B,intron_variant,,ENST00000444502,;TOP3B,intron_variant,,ENST00000457179,;TOP3B,intron_variant,,ENST00000436282,;							MODIFIER	-/2589		TOP3B_HUMAN			Transcript			.	ENSP00000349705		CCDS13797.1			1	
STAG1	0	LGGM	GRCh37	3	136062788	136062788	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	22	4	.	.	ENST00000383202.2:c.3332C>T	p.Pro1111Leu	p.P1111L	ENST00000383202	NM_005862.2	1111	cCc/cTc	0	1	1	UPI000020A2DE	0	NA	ENST00000383202		ENSG00000118007	11354		26	0		HGNC	p.P1111L		STAG1		SNV							ENST00000236698	protein_coding	getma.org/?cm=var&var=hg19,3,136062788,G,A&fts=all		hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6		P/L		A	neutral	3589/6053		getma.org/?cm=msa&ty=f&p=STAG1_HUMAN&rb=1077&re=1258&var=P1111L	tolerated(0.66)	Q4LE48_HUMAN			YES	STAG1,missense_variant,p.Pro1111Leu,ENST00000383202,NM_005862.2;STAG1,missense_variant,p.Pro1111Leu,ENST00000236698,;STAG1,missense_variant,p.Pro851Leu,ENST00000434713,;STAG1,missense_variant,p.Pro695Leu,ENST00000536929,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,downstream_gene_variant,,ENST00000465961,;							MODERATE	3332/3777	P1111L	STAG1_HUMAN			Transcript		benign(0.002)	.	ENSP00000372689		CCDS3090.1			1	
UCN3	0	LGGM	GRCh37	10	5416132	5416132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	2	4	.	.	ENST00000380433.3:c.449A>G	p.Asn150Ser	p.N150S	ENST00000380433	NM_053049.2	150	aAt/aGt	0	1	1	UPI000013FC64	0	getma.org/pdb.php?prot=UCN3_HUMAN&from=120&to=157&var=N150S	ENST00000380433		ENSG00000178473	17781		6	2.135		HGNC	p.N150S		UCN3		SNV							ENST00000380433	protein_coding	getma.org/?cm=var&var=hg19,10,5416132,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR17575,hmmpanther:PTHR17575:SF1,Pfam_domain:PF11613		N/S		G	medium	677/714		getma.org/?cm=msa&ty=f&p=UCN3_HUMAN&rb=120&re=157&var=N150S	deleterious(0)				YES	UCN3,missense_variant,p.Asn150Ser,ENST00000380433,NM_053049.2;							MODERATE	449/486	N150S	UCN3_HUMAN			Transcript		benign(0.001)	.	ENSP00000369798		CCDS7065.1			1	
C2orf68	0	LGGM	GRCh37	2	85836152	85836152	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	15	5	.	.	ENST00000306336.5:c.417A>G	p.Ala139=	p.A139=	ENST00000306336	NM_001013649.3	139	gcA/gcG	0	1	1	UPI00002377B0	0		ENST00000306336		ENSG00000168887	34353		20			HGNC	p.A139A		C2orf68		SNV							ENST00000306336	protein_coding					A		C		462/2837				L7T9J5_HUMAN			YES	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,;							LOW	417/501		CB068_HUMAN			Transcript			.	ENSP00000304410		CCDS42704.1			1	
TP53	0	LGGM	GRCh37	17	7576857	7576857	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	5	5	.	.	ENST00000269305.4:c.989T>C	p.Leu330Pro	p.L330P	ENST00000269305	NM_001126112.2	330	cTt/cCt	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=318&to=359&var=L330P	ENST00000269305		ENSG00000141510	11998		10	2.94		HGNC	p.L330P	TP53_g.14061T>C,COSM46157	TP53		SNV			1			0,1	ENST00000420246	protein_coding	getma.org/?cm=var&var=hg19,17,7576857,A,G&fts=all		Gene3D:1olgA00,Pfam_domain:PF07710,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF47719		L/P		G	medium	1179/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=318&re=359&var=L330P	deleterious(0)	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			YES	TP53,missense_variant,p.Leu330Pro,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.Leu330Pro,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.Leu330Pro,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.Leu330Pro,ENST00000445888,;TP53,missense_variant,p.Leu330Pro,ENST00000359597,;TP53,missense_variant,p.Leu198Pro,ENST00000509690,;TP53,missense_variant,p.Leu17Pro,ENST00000576024,;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,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,;					0,1		MODERATE	989/1182	L330P	P53_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000269305		CCDS11118.1			1	
SMAD9	0	LGGM	GRCh37	13	37453577	37453577	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	8	6	.	.	ENST00000379826.4:c.250C>T	p.Arg84Cys	p.R84C	ENST00000379826	NM_001127217.2	84	Cgc/Tgc	0	1	1	UPI0000135A85	0	getma.org/pdb.php?prot=SMAD9_HUMAN&from=34&to=135&var=R84C	ENST00000379826		ENSG00000120693	6774		14	3.39		HGNC	p.R84C	rs769199234,COSM1266198,COSM1266197	SMAD9		SNV			1			0,1,1	ENST00000350148	protein_coding	getma.org/?cm=var&var=hg19,13,37453577,G,A&fts=all		Superfamily_domains:0040928,SMART_domains:SM00523,Pfam_domain:PF03165,Gene3D:1ozjA00,hmmpanther:PTHR13703:SF37,hmmpanther:PTHR13703,PROSITE_profiles:PS51075		R/C		A	medium	593/5592	1.51E-05	getma.org/?cm=msa&ty=f&p=SMAD9_HUMAN&rb=34&re=135&var=R84C	deleterious(0)				YES	SMAD9,missense_variant,p.Arg84Cys,ENST00000379826,NM_001127217.2;SMAD9,missense_variant,p.Arg84Cys,ENST00000350148,NM_005905.5;SMAD9,missense_variant,p.Arg84Cys,ENST00000399275,;SMAD9,downstream_gene_variant,,ENST00000483941,;					0,1,1		MODERATE	250/1404	R84C	SMAD9_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000369154	8.24E-06	CCDS45032.1			1	
SKA1	0	LGGM	GRCh37	18	47902204	47902204	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	25	6	.	.	ENST00000285116.3:c.4G>A	p.Ala2Thr	p.A2T	ENST00000285116	NM_145060.3	2	Gcc/Acc	0	1	1	UPI0000047B31	0	NA	ENST00000285116		ENSG00000154839	28109		31	1.04		HGNC	p.A2T	rs778799252	SKA1	0.000122	SNV							ENST00000285116	protein_coding	getma.org/?cm=var&var=hg19,18,47902204,G,A&fts=all				A/T		A	low	215/2905		getma.org/?cm=msa&ty=f&p=SKA1_HUMAN&rb=1&re=45&var=A2T	tolerated(0.39)	K7EPW0_HUMAN,K7EP61_HUMAN			YES	SKA1,missense_variant,p.Ala2Thr,ENST00000285116,NM_145060.3,NM_001039535.2;SKA1,missense_variant,p.Ala2Thr,ENST00000417656,;SKA1,missense_variant,p.Ala2Thr,ENST00000398452,;SKA1,5_prime_UTR_variant,,ENST00000494518,;SKA1,5_prime_UTR_variant,,ENST00000488454,;							MODERATE	4/768	A2T	SKA1_HUMAN			Transcript		benign(0.004)	.	ENSP00000285116	1.65E-05	CCDS11946.1			1	
NPC1L1	0	LGGM	GRCh37	7	44573403	44573403	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	31	7	.	.	ENST00000289547.4:c.2216C>A	p.Ala739Asp	p.A739D	ENST00000289547	NM_013389.2	739	gCc/gAc	0	1	1	UPI000013DF88	0	NA	ENST00000289547		ENSG00000015520	7898		38	2.63		HGNC	p.A739D		NPC1L1		SNV			1				ENST00000289547	protein_coding	getma.org/?cm=var&var=hg19,7,44573403,G,T&fts=all		Superfamily_domains:SSF82866,Pfam_domain:PF12349,Gene3D:2j8sB01,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF89,PROSITE_profiles:PS50156		A/D		T	medium	2272/5048		getma.org/?cm=msa&ty=f&p=NPCL1_HUMAN&rb=661&re=815&var=A739D	deleterious(0)				YES	NPC1L1,missense_variant,p.Ala739Asp,ENST00000289547,NM_013389.2;NPC1L1,missense_variant,p.Ala739Asp,ENST00000381160,NM_001101648.1;NPC1L1,missense_variant,p.Ala739Asp,ENST00000546276,;NPC1L1,intron_variant,,ENST00000423141,;							MODERATE	2216/4080	A739D	NPCL1_HUMAN			Transcript		possibly_damaging(0.752)	.	ENSP00000289547		CCDS5491.1			1	
NRD1	0	LGGM	GRCh37	1	52256623	52256623	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	8	7	.	.	ENST00000354831.7:c.3204T>C	p.Ser1068=	p.S1068=	ENST00000354831	NM_002525.2	1068	tcT/tcC	0	1	1	UPI0000458A53	0		ENST00000354831		ENSG00000078618	7995		15			HGNC	p.S1000S		NRD1		SNV							ENST00000352171	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11851,hmmpanther:PTHR11851:SF108,Gene3D:3.30.830.10,Pfam_domain:PF05193,Superfamily_domains:SSF63411		S		G		3394/3895				G3V1R5_HUMAN,B1AKJ5_HUMAN			YES	NRD1,synonymous_variant,p.=,ENST00000354831,NM_002525.2;NRD1,synonymous_variant,p.=,ENST00000352171,NM_001101662.1;NRD1,synonymous_variant,p.=,ENST00000539524,NM_001242361.1;NRD1,synonymous_variant,p.=,ENST00000440943,;OSBPL9,downstream_gene_variant,,ENST00000371710,NM_024586.5,NM_148906.2;OSBPL9,downstream_gene_variant,,ENST00000337809,NM_148908.3,NM_148909.3;OSBPL9,downstream_gene_variant,,ENST00000371714,;OSBPL9,downstream_gene_variant,,ENST00000447887,;OSBPL9,downstream_gene_variant,,ENST00000428468,;OSBPL9,downstream_gene_variant,,ENST00000453295,;OSBPL9,downstream_gene_variant,,ENST00000435686,;OSBPL9,downstream_gene_variant,,ENST00000462759,NM_148904.3;OSBPL9,downstream_gene_variant,,ENST00000361556,NM_148907.2;NRD1,downstream_gene_variant,,ENST00000544028,;OSBPL9,downstream_gene_variant,,ENST00000486942,NM_148905.3;OSBPL9,downstream_gene_variant,,ENST00000530544,;OSBPL9,downstream_gene_variant,,ENST00000531828,;RP4-657D16.3,upstream_gene_variant,,ENST00000586761,;RP4-657D16.3,upstream_gene_variant,,ENST00000591675,;RP4-657D16.3,upstream_gene_variant,,ENST00000588291,;NRD1,non_coding_transcript_exon_variant,,ENST00000485608,;NRD1,downstream_gene_variant,,ENST00000475310,;NRD1,downstream_gene_variant,,ENST00000497358,;NRD1,upstream_gene_variant,,ENST00000464385,;OSBPL9,downstream_gene_variant,,ENST00000531819,;OSBPL9,downstream_gene_variant,,ENST00000475697,;OSBPL9,downstream_gene_variant,,ENST00000495776,;OSBPL9,downstream_gene_variant,,ENST00000435274,;							LOW	3204/3660					Transcript			.	ENSP00000346890		CCDS559.1			1	
LPPR4	0	LGGM	GRCh37	1	99772243	99772243	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	13	8	.	.	ENST00000370185.3:c.1969C>T	p.Leu657Phe	p.L657F	ENST00000370185	NM_014839.4	657	Ctt/Ttt	0	1	1	UPI0000161229	0	NA	ENST00000370185		ENSG00000117600			21	0		Uniprot_gn	p.L499F		LPPR4		SNV							ENST00000370184	protein_coding	getma.org/?cm=var&var=hg19,1,99772243,C,T&fts=all				L/F		T	neutral	2466/5369		getma.org/?cm=msa&ty=f&p=LPPR4_HUMAN&rb=332&re=761&var=L657F	tolerated(0.06)				YES	LPPR4,missense_variant,p.Leu657Phe,ENST00000370185,NM_014839.4;LPPR4,missense_variant,p.Leu599Phe,ENST00000457765,NM_001166252.1;LPPR4,missense_variant,p.Leu499Phe,ENST00000370184,;							MODERATE	1969/2292	L657F	LPPR4_HUMAN			Transcript		benign(0.022)	.	ENSP00000359204		CCDS757.1			1	
KCNB2	0	LGGM	GRCh37	8	73480478	73480478	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	129	8	.	.	ENST00000523207.1:c.509C>A	p.Thr170Asn	p.T170N	ENST00000523207	NM_004770.2	170	aCc/aAc	0	1	1	UPI000012DC85	0	getma.org/pdb.php?prot=KCNB2_HUMAN&from=137&to=234&var=T170N	ENST00000523207		ENSG00000182674	6232		137	1.39		HGNC	p.T170N		KCNB2		SNV							ENST00000523207	protein_coding	getma.org/?cm=var&var=hg19,8,73480478,C,A&fts=all		Prints_domain:PR01495,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF110		T/N		A	low	1097/3582		getma.org/?cm=msa&ty=f&p=KCNB2_HUMAN&rb=137&re=234&var=T170N	tolerated(0.32)				YES	KCNB2,missense_variant,p.Thr170Asn,ENST00000523207,NM_004770.2;							MODERATE	509/2736	T170N	KCNB2_HUMAN			Transcript		benign(0.365)	.	ENSP00000430846		CCDS6209.1			1	
PRDM14	0	LGGM	GRCh37	8	70980472	70980472	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	44	9	.	.	ENST00000276594.2:c.905T>A	p.Met302Lys	p.M302K	ENST00000276594	NM_024504.3	302	aTg/aAg	0	1	1	UPI0000132186	0	getma.org/pdb.php?prot=PRD14_HUMAN&from=265&to=367&var=M302K	ENST00000276594		ENSG00000147596	14001		53	3.015		HGNC	p.M302K		PRDM14		SNV							ENST00000276594	protein_coding	getma.org/?cm=var&var=hg19,8,70980472,A,T&fts=all		Gene3D:2.170.270.10,Pfam_domain:PF00856,PROSITE_profiles:PS50280,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF354,SMART_domains:SM00317,Superfamily_domains:SSF82199		M/K		T	medium	1107/2344		getma.org/?cm=msa&ty=f&p=PRD14_HUMAN&rb=265&re=367&var=M302K	deleterious(0)	C9JMM8_HUMAN			YES	PRDM14,missense_variant,p.Met302Lys,ENST00000276594,NM_024504.3;PRDM14,downstream_gene_variant,,ENST00000426346,;							MODERATE	905/1716	M302K	PRD14_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000276594		CCDS6206.1			1	
KLK1	0	LGGM	GRCh37	19	51322452	51322452	+	stop_lost	Nonstop_Mutation	SNP	A	A	T	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	7	9	.	.	ENST00000301420.2:c.787T>A	p.Ter263ArgextTer10	p.*263Rext*10	ENST00000301420	NM_002257.3	263	Tga/Aga	0	1	1	UPI000004CA0D	0		ENST00000301420		ENSG00000167748	6357		16			HGNC	p.X161R		KLK1		SNV			1				ENST00000448701	protein_coding					*/R		T		823/866				Q9UE84_HUMAN,F8WAM8_HUMAN			YES	KLK1,stop_lost,p.Ter161ArgextTer10,ENST00000448701,;KLK1,stop_lost,p.Ter263ArgextTer10,ENST00000301420,NM_002257.3;CTD-2568A17.5,downstream_gene_variant,,ENST00000326989,;CTD-2568A17.5,downstream_gene_variant,,ENST00000593632,;KLK1,3_prime_UTR_variant,,ENST00000593325,;KLK1,non_coding_transcript_exon_variant,,ENST00000593859,;KLK1,downstream_gene_variant,,ENST00000596300,;							HIGH	787/789		KLK1_HUMAN			Transcript			.	ENSP00000301420		CCDS12804.1			1	
PDHA2	0	LGGM	GRCh37	4	96761493	96761493	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	13	9	.	.	ENST00000295266.4:c.192G>A	p.Arg64=	p.R64=	ENST00000295266	NM_005390.4	64	agG/agA	0	1	1	UPI0000130C31	0		ENST00000295266		ENSG00000163114	8807		22			HGNC	p.R64R	rs536770621	PDHA2		SNV				9.61E-05			ENST00000295266	protein_coding		A:0.0008	hmmpanther:PTHR11516,hmmpanther:PTHR11516:SF27,Gene3D:3.40.50.970,TIGRFAM_domain:TIGR03182,Superfamily_domains:SSF52518		R		A		255/1387					A:0	A:0	YES	PDHA2,synonymous_variant,p.=,ENST00000295266,NM_005390.4;		A:0.0002					LOW	192/1167		ODPAT_HUMAN		A:0	Transcript			.	ENSP00000295266	8.24E-06	CCDS3644.1		A:0	1	
BPTF	0	LGGM	GRCh37	17	65955927	65955927	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	20	9	.	.	ENST00000306378.6:c.8197T>A	p.Ser2733Thr	p.S2733T	ENST00000306378	NM_182641.3	2733	Tca/Aca	0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		29	1.795		HGNC	p.S2716T		BPTF		SNV							ENST00000335221	protein_coding	getma.org/?cm=var&var=hg19,17,65955927,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880,Superfamily_domains:SSF57903		S/T		A	low	8636/11292		getma.org/?cm=msa&ty=f&p=B4DJV8_HUMAN&rb=479&re=546&var=S537T						BPTF,missense_variant,p.Ser2859Thr,ENST00000321892,;BPTF,missense_variant,p.Ser2716Thr,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Ser2733Thr,ENST00000306378,NM_182641.3;BPTF,missense_variant,p.Ser2577Thr,ENST00000424123,;BPTF,missense_variant,p.Ser405Thr,ENST00000342579,;BPTF,missense_variant,p.Ser463Thr,ENST00000580465,;BPTF,missense_variant,p.Ser185Thr,ENST00000581258,;BPTF,upstream_gene_variant,,ENST00000583990,;							MODERATE	8575/9141	S537T	BPTF_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000315454					1	
DMC1	0	LGGM	GRCh37	22	38917697	38917697	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	40	10	.	.	ENST00000216024.2:c.869G>T	p.Gly290Val	p.G290V	ENST00000216024	NM_007068.3	290	gGa/gTa	0	1	1	UPI00001294D1	0	getma.org/pdb.php?prot=DMC1_HUMAN&from=77&to=339&var=G290V	ENST00000216024		ENSG00000100206	2927		50	4.275		HGNC	p.G290V		DMC1		SNV							ENST00000216024	protein_coding	getma.org/?cm=var&var=hg19,22,38917697,C,A&fts=all		PROSITE_profiles:PS50163,hmmpanther:PTHR22942:SF29,hmmpanther:PTHR22942,Pfam_domain:PF08423,TIGRFAM_domain:TIGR02238,Gene3D:3.40.50.300,PIRSF_domain:PIRSF005856,SMART_domains:SM00382,Superfamily_domains:SSF52540		G/V		A	high	1146/2371		getma.org/?cm=msa&ty=f&p=DMC1_HUMAN&rb=77&re=339&var=G290V	deleterious(0)	B0QYE1_HUMAN			YES	DMC1,missense_variant,p.Gly290Val,ENST00000216024,NM_007068.3;DMC1,missense_variant,p.Gly235Val,ENST00000428462,NM_001278208.1;							MODERATE	869/1023	G290V	DMC1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000216024		CCDS13973.1			1	
CXorf65	0	LGGM	GRCh37	X	70324160	70324160	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	8	11	.	.	ENST00000374251.5:c.414T>C	p.Pro138=	p.P138=	ENST00000374251	NM_001025265.2	138	ccT/ccC	0	1	1	UPI0000160F66	0		ENST00000374251		ENSG00000204165	33713		19			HGNC	p.P138P		CXorf65		SNV							ENST00000374251	protein_coding			hmmpanther:PTHR23036,hmmpanther:PTHR23036:SF16		P		G		463/601				C9J8K0_HUMAN			YES	CXorf65,synonymous_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,;CXorf65,3_prime_UTR_variant,,ENST00000438526,;CXorf65,non_coding_transcript_exon_variant,,ENST00000466160,;IL2RG,downstream_gene_variant,,ENST00000276110,;IL2RG,downstream_gene_variant,,ENST00000512747,;CXorf65,downstream_gene_variant,,ENST00000483257,;							LOW	414/552		CX065_HUMAN			Transcript			.	ENSP00000363369		CCDS35324.1			1	
ARID1A	0	LGGM	GRCh37	1	27107195	27107205	+	frameshift_variant	Frame_Shift_Del	DEL	CATTGGTTTCA	CATTGGTTTCA	-	novel	by Submitter	H112306	H112306N.bam	CATTGGTTTCA	CATTGGTTTCA					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	9	11	.	.	ENST00000324856.7:c.6808_6818del	p.Leu2270SerfsTer4	p.L2270Sfs*4	ENST00000324856	NM_006015.4	2269	tCATTGGTTTCA/t	0	1	1	UPI0000167B91	0		ENST00000324856		ENSG00000117713	11110		20			HGNC	p.2052_2055del		ARID1A		deletion			1				ENST00000457599	protein_coding			hmmpanther:PTHR12656,hmmpanther:PTHR12656:SF12,Superfamily_domains:SSF48371		SLVS/X		-		7177-7187/8577				Q96T01_HUMAN,Q96SY8_HUMAN,Q96SM7_HUMAN,E9PQW6_HUMAN,C1KEN7_HUMAN,A4FU79_HUMAN			YES	ARID1A,frameshift_variant,p.Leu2270SerfsTer4,ENST00000324856,NM_006015.4;ARID1A,frameshift_variant,p.Leu2053SerfsTer4,ENST00000457599,NM_139135.2;ARID1A,frameshift_variant,p.Leu1887SerfsTer4,ENST00000374152,;ARID1A,frameshift_variant,p.Leu1167SerfsTer4,ENST00000430799,;ARID1A,frameshift_variant,p.Leu598SerfsTer4,ENST00000540690,;ARID1A,3_prime_UTR_variant,,ENST00000466382,;ARID1A,3_prime_UTR_variant,,ENST00000532781,;							HIGH	6806-6816/6858		ARI1A_HUMAN			Transcript	2		.	ENSP00000320485		CCDS285.1			1	
TRIM68	0	LGGM	GRCh37	11	4626370	4626370	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	22	12	.	.	ENST00000300747.5:c.365A>G	p.Gln122Arg	p.Q122R	ENST00000300747	NM_018073.6	122	cAg/cGg	0	1	1	UPI00001D6F26	0	getma.org/pdb.php?prot=TRI68_HUMAN&from=94&to=134&var=Q122R	ENST00000300747		ENSG00000167333	21161		34	-0.36		HGNC	p.Q122R		TRIM68		SNV							ENST00000533021	protein_coding	getma.org/?cm=var&var=hg19,11,4626370,T,C&fts=all		Superfamily_domains:SSF57845,SMART_domains:SM00336,Pfam_domain:PF00643,Gene3D:1freA00,hmmpanther:PTHR24103:SF89,hmmpanther:PTHR24103,PROSITE_profiles:PS50119		Q/R		C	neutral	655/3352		getma.org/?cm=msa&ty=f&p=TRI68_HUMAN&rb=94&re=134&var=Q122R	tolerated(0.8)	E9PP83_HUMAN			YES	TRIM68,missense_variant,p.Gln122Arg,ENST00000300747,NM_018073.6;TRIM68,missense_variant,p.Gln122Arg,ENST00000533021,;TRIM68,intron_variant,,ENST00000526337,;TRIM68,missense_variant,p.Gln122Arg,ENST00000531101,;TRIM68,non_coding_transcript_exon_variant,,ENST00000532108,;TRIM68,intron_variant,,ENST00000531644,;TRIM68,upstream_gene_variant,,ENST00000531717,;							MODERATE	365/1458	Q122R	TRI68_HUMAN			Transcript		benign(0.002)	.	ENSP00000300747		CCDS31356.1			1	
STARD8	0	LGGM	GRCh37	X	67941551	67941551	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	7	12	.	.	ENST00000374599.3:c.2422C>T	p.His808Tyr	p.H808Y	ENST00000374599	NM_001142503.2	808	Cac/Tac	0	1		UPI000016A011	0	getma.org/pdb.php?prot=STAR8_HUMAN&from=586&to=735&var=H728Y	ENST00000252336		ENSG00000130052	19161		19	1.3		HGNC	p.H728Y		STARD8		SNV							ENST00000374597	protein_coding	getma.org/?cm=var&var=hg19,X,67941551,C,T&fts=all		Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR12659,hmmpanther:PTHR12659:SF3,SMART_domains:SM00324,Superfamily_domains:SSF48350		H/Y		T	low	2554/4862		getma.org/?cm=msa&ty=f&p=STAR8_HUMAN&rb=586&re=735&var=H728Y	deleterious(0)					STARD8,missense_variant,p.His728Tyr,ENST00000252336,NM_014725.4;STARD8,missense_variant,p.His808Tyr,ENST00000374599,NM_001142503.2;STARD8,missense_variant,p.His728Tyr,ENST00000374597,NM_001142504.2;STARD8,3_prime_UTR_variant,,ENST00000523864,;							MODERATE	2182/3072	H728Y	STAR8_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000252336		CCDS14390.1			1	
RIMKLA	0	LGGM	GRCh37	1	42870250	42870250	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	14	12	.	.	ENST00000431473.3:c.463A>G	p.Ser155Gly	p.S155G	ENST00000431473	NM_173642.3	155	Agc/Ggc	0	1	1	UPI0000160ABF	0	getma.org/pdb.php?prot=RIMKA_HUMAN&from=108&to=299&var=S155G	ENST00000431473		ENSG00000177181	28725		26	0.255		HGNC	p.S155G		RIMKLA		SNV							ENST00000431473	protein_coding	getma.org/?cm=var&var=hg19,1,42870250,A,G&fts=all		Superfamily_domains:SSF56059,TIGRFAM_domain:TIGR00768,Pfam_domain:PF08443,Gene3D:3.30.1490.20,hmmpanther:PTHR21621,hmmpanther:PTHR21621:SF1,PROSITE_profiles:PS50975		S/G		G	neutral	592/8909		getma.org/?cm=msa&ty=f&p=RIMKA_HUMAN&rb=108&re=299&var=S155G	tolerated(0.07)				YES	RIMKLA,missense_variant,p.Ser155Gly,ENST00000431473,NM_173642.3;RIMKLA,missense_variant,p.Ser31Gly,ENST00000410070,;							MODERATE	463/1176	S155G	RIMKA_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000414330		CCDS466.2			1	
EXPH5	0	LGGM	GRCh37	11	108398878	108398878	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	23	12	.	.	ENST00000265843.4:c.477G>C	p.Val159=	p.V159=	ENST00000265843	NM_015065.2	159	gtG/gtC	0	1	1	UPI000013D692	0		ENST00000265843		ENSG00000110723	30578		35			HGNC	p.V83V		EXPH5		SNV			1				ENST00000428840	protein_coding			hmmpanther:PTHR21469		V		G		588/10187				F5GXG5_HUMAN,E9PPH6_HUMAN,E9PIT1_HUMAN,E9PC93_HUMAN,E7ENT4_HUMAN			YES	EXPH5,synonymous_variant,p.=,ENST00000265843,NM_015065.2;EXPH5,synonymous_variant,p.=,ENST00000428840,;EXPH5,synonymous_variant,p.=,ENST00000525344,;EXPH5,synonymous_variant,p.=,ENST00000526312,;EXPH5,intron_variant,,ENST00000443411,;EXPH5,intron_variant,,ENST00000533052,;EXPH5,downstream_gene_variant,,ENST00000531386,;EXPH5,non_coding_transcript_exon_variant,,ENST00000524840,;							LOW	477/5970		EXPH5_HUMAN			Transcript			.	ENSP00000265843		CCDS8341.1			1	
ADAM29	0	LGGM	GRCh37	4	175897327	175897327	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	19	12	.	.	ENST00000359240.3:c.651C>T	p.Asn217=	p.N217=	ENST00000359240	NM_014269.4	217	aaC/aaT	0	1	1	UPI000013E9DE	0		ENST00000359240		ENSG00000168594	207	0.00026	31			HGNC	p.N217N	rs368428894,COSM1244255	ADAM29		SNV	A:0.0002			9.66E-05		0,1	ENST00000514159	protein_coding		A:0.0008	PROSITE_profiles:PS50215,hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486		N	A:0	T		1321/3325	0.000136			D6RHU0_HUMAN,D6RBU0_HUMAN	A:0	A:0	YES	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,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,;		A:0.0002			0,1		LOW	651/2463		ADA29_HUMAN		A:0	Transcript			.	ENSP00000352177	0.000107	CCDS3823.1		A:0	1	
MICALL2	0	LGGM	GRCh37	7	1480316	1480316	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	22	13	.	.	ENST00000297508.7:c.1716G>C	p.Met572Ile	p.M572I	ENST00000297508	NM_182924.3	572	atG/atC	0	1	1	UPI00000742E0	0	NA	ENST00000297508		ENSG00000164877	29672		35	0		HGNC	p.M572I	rs767564040	MICALL2		SNV							ENST00000297508	protein_coding	getma.org/?cm=var&var=hg19,7,1480316,C,G&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF96		M/I		G	neutral	1892/3121	1.53E-05	getma.org/?cm=msa&ty=f&p=MILK2_HUMAN&rb=251&re=729&var=M572I	tolerated(0.4)				YES	MICALL2,missense_variant,p.Met572Ile,ENST00000297508,NM_182924.3;MICALL2,missense_variant,p.Met360Ile,ENST00000405088,;MICALL2,upstream_gene_variant,,ENST00000471899,;MICALL2,missense_variant,p.Met530Ile,ENST00000413446,;MICALL2,non_coding_transcript_exon_variant,,ENST00000472100,;MICALL2,non_coding_transcript_exon_variant,,ENST00000467394,;MICALL2,non_coding_transcript_exon_variant,,ENST00000487156,;MICALL2,upstream_gene_variant,,ENST00000496184,;MICALL2,upstream_gene_variant,,ENST00000479007,;MICALL2,downstream_gene_variant,,ENST00000482839,;MICALL2,upstream_gene_variant,,ENST00000487187,;MICALL2,upstream_gene_variant,,ENST00000470807,;MICALL2,upstream_gene_variant,,ENST00000467783,;MICALL2,upstream_gene_variant,,ENST00000460198,;MICALL2,upstream_gene_variant,,ENST00000493998,;							MODERATE	1716/2715	M572I	MILK2_HUMAN			Transcript		benign(0.005)	.	ENSP00000297508	8.26E-06	CCDS5324.1			1	
DST	0	LGGM	GRCh37	6	56481157	56481157	+	intron_variant	Intron	SNP	A	A	C	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	19	13	.	.	ENST00000244364.6:c.3319-1875T>G		*1107*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		32			HGNC	p.S2370A		DST		SNV			1				ENST00000370765	protein_coding							C		-/16742				Q86T18_HUMAN			YES	DST,missense_variant,p.Ser2370Ala,ENST00000370765,NM_001723.5;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000520645,;DST,downstream_gene_variant,,ENST00000522360,;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364		CCDS47443.1			1	
USP38	0	LGGM	GRCh37	4	144135813	144135813	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	16	13	.	.	ENST00000307017.4:c.2684G>T	p.Ser895Ile	p.S895I	ENST00000307017	NM_032557.5	895	aGt/aTt	0	1	1	UPI0000047AF9	0	getma.org/pdb.php?prot=UBP38_HUMAN&from=442&to=946&var=S895I	ENST00000307017		ENSG00000170185	20067		29	0.65		HGNC	p.S895I		USP38		SNV							ENST00000307017	protein_coding	getma.org/?cm=var&var=hg19,4,144135813,G,T&fts=all		Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF386		S/I		T	neutral	3190/7009		getma.org/?cm=msa&ty=f&p=UBP38_HUMAN&rb=442&re=946&var=S895I	deleterious(0.04)	B3KSB9_HUMAN			YES	USP38,missense_variant,p.Ser895Ile,ENST00000307017,NM_032557.5;USP38,missense_variant,p.Ser895Ile,ENST00000510377,;USP38,3_prime_UTR_variant,,ENST00000511739,;							MODERATE	2684/3129	S895I	UBP38_HUMAN			Transcript		benign(0.008)	.	ENSP00000303434		CCDS3758.1			1	
ASB4	0	LGGM	GRCh37	7	95115463	95115463	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	26	13	.	.	ENST00000325885.5:c.180T>C	p.Tyr60=	p.Y60=	ENST00000325885	NM_016116.2	60	taT/taC	0	1	1	UPI00001260E8	0		ENST00000325885		ENSG00000005981	16009		39			HGNC	p.Y60Y		ASB4		SNV							ENST00000325885	protein_coding			Gene3D:1.25.40.20,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF26,Superfamily_domains:SSF48403		Y		C		251/3825							YES	ASB4,synonymous_variant,p.=,ENST00000325885,NM_016116.2;ASB4,synonymous_variant,p.=,ENST00000428113,NM_145872.2;ASB4,intron_variant,,ENST00000257621,;							LOW	180/1281		ASB4_HUMAN			Transcript			.	ENSP00000321388		CCDS5641.1			1	
OR8D4	0	LGGM	GRCh37	11	123777530	123777530	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	37	14	.	.	ENST00000321355.2:c.392T>C	p.Leu131Pro	p.L131P	ENST00000321355	NM_001005197.1	131	cTc/cCc	0	1	1	UPI0000040A83	0	getma.org/pdb.php?prot=OR8D4_HUMAN&from=1&to=138&var=L131P	ENST00000321355		ENSG00000181518	14840		51	3.25		HGNC	p.L131P		OR8D4		SNV							ENST00000321355	protein_coding	getma.org/?cm=var&var=hg19,11,123777530,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF21,Superfamily_domains:SSF81321		L/P		C	medium	422/1075		getma.org/?cm=msa&ty=f&p=OR8D4_HUMAN&rb=1&re=138&var=L131P	deleterious(0)				YES	OR8D4,missense_variant,p.Leu131Pro,ENST00000321355,NM_001005197.1;							MODERATE	392/945	L131P	OR8D4_HUMAN			Transcript		probably_damaging(0.94)	.	ENSP00000325381		CCDS31698.1			1	
C2orf71	0	LGGM	GRCh37	2	29295425	29295425	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	11	14	.	.	ENST00000331664.5:c.1703A>T	p.Glu568Val	p.E568V	ENST00000331664	NM_001029883.2	568	gAg/gTg	0	1	1	UPI0000251DD8	0	NA	ENST00000331664		ENSG00000179270	34383		25	2.095		HGNC	p.E568V		C2orf71		SNV			1				ENST00000331664	protein_coding	getma.org/?cm=var&var=hg19,2,29295425,T,A&fts=all		hmmpanther:PTHR22017,Pfam_domain:PF15449		E/V		A	medium	1703/7044		getma.org/?cm=msa&ty=f&p=CB071_HUMAN&rb=1&re=1286&var=E568V	deleterious(0)				YES	C2orf71,missense_variant,p.Glu568Val,ENST00000331664,NM_001029883.2;							MODERATE	1703/3867	E568V	CB071_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000332809		CCDS42669.1			1	
MOV10	0	LGGM	GRCh37	1	113242534	113242534	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	47	15	.	.	ENST00000413052.2:c.2728A>G	p.Thr910Ala	p.T910A	ENST00000413052	NM_001130079.1	910	Acc/Gcc	0	1		UPI000012FA84	0	getma.org/pdb.php?prot=MOV10_HUMAN&from=698&to=923&var=T910A	ENST00000357443		ENSG00000155363	7200		62	4.02		HGNC	p.T910A		MOV10		SNV							ENST00000413052	protein_coding	getma.org/?cm=var&var=hg19,1,113242534,A,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF13087,hmmpanther:PTHR10887,hmmpanther:PTHR10887:SF326,Superfamily_domains:SSF52540		T/A		G	high	2896/3383		getma.org/?cm=msa&ty=f&p=MOV10_HUMAN&rb=698&re=923&var=T910A	deleterious(0)	Q5JR04_HUMAN,B3KQ43_HUMAN				MOV10,missense_variant,p.Thr854Ala,ENST00000369644,NM_001286072.1;MOV10,missense_variant,p.Thr910Ala,ENST00000413052,NM_001130079.1,NM_020963.3;MOV10,missense_variant,p.Thr910Ala,ENST00000369645,;MOV10,missense_variant,p.Thr910Ala,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,;RP11-426L16.10,downstream_gene_variant,,ENST00000606505,;RHOC,downstream_gene_variant,,ENST00000369636,;RP11-426L16.10,downstream_gene_variant,,ENST00000605933,;RHOC,downstream_gene_variant,,ENST00000534717,;RHOC,downstream_gene_variant,,ENST00000484054,;RHOC,downstream_gene_variant,,ENST00000436685,;RHOC,downstream_gene_variant,,ENST00000414971,;RP11-426L16.3,upstream_gene_variant,,ENST00000421943,;MOV10,non_coding_transcript_exon_variant,,ENST00000468624,;MOV10,non_coding_transcript_exon_variant,,ENST00000496577,;MOV10,non_coding_transcript_exon_variant,,ENST00000490413,;MOV10,non_coding_transcript_exon_variant,,ENST00000494319,;MOV10,non_coding_transcript_exon_variant,,ENST00000495374,;MOV10,downstream_gene_variant,,ENST00000488160,;RP11-426L16.10,downstream_gene_variant,,ENST00000471038,;MOV10,downstream_gene_variant,,ENST00000471160,;MOV10,downstream_gene_variant,,ENST00000482545,;MOV10,downstream_gene_variant,,ENST00000481711,;RHOC,downstream_gene_variant,,ENST00000468093,;RHOC,downstream_gene_variant,,ENST00000473074,;RHOC,downstream_gene_variant,,ENST00000484280,;RP11-426L16.10,downstream_gene_variant,,ENST00000607158,;RP11-426L16.10,downstream_gene_variant,,ENST00000606954,;RHOC,downstream_gene_variant,,ENST00000527563,;RHOC,downstream_gene_variant,,ENST00000528831,;RHOC,downstream_gene_variant,,ENST00000478447,;							MODERATE	2728/3012	T910A	MOV10_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000350028		CCDS853.1			1	
IGHV5-51	0	LGGM	GRCh37	14	107034826	107034826	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	6	15	.	.	ENST00000390626.2:c.254G>A	p.Gly85Asp	p.G85D	ENST00000390626		85	gGc/gAc	0	1	1	UPI000011AAC8	0		ENST00000390626		ENSG00000211966	5659		21			HGNC	p.G85D	rs782433060	IGHV5-51		SNV							ENST00000390626	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23266,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		G/D		T		313/410			tolerated(0.07)				YES	IGHV5-51,missense_variant,p.Gly85Asp,ENST00000390626,;IGHVIII-51-1,downstream_gene_variant,,ENST00000519403,;	0.000116						MODERATE	254/351					Transcript		probably_damaging(1)	.	ENSP00000375035	8.26E-06				1	
NODAL	0	LGGM	GRCh37	10	72207684	72207684	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	40	16	.	.	ENST00000414871.1:c.24T>C	p.Thr8=	p.T8=	ENST00000414871		8	acT/acC	0	1	1	UPI000059D165	0		ENST00000414871		ENSG00000156574	7865		56			HGNC	p.T8T		NODAL		SNV			1				ENST00000414871	protein_coding					T		G		24/1066				H7C0E4_HUMAN				NODAL,synonymous_variant,p.=,ENST00000414871,;							LOW	24/879					Transcript			.	ENSP00000394468					1	
RCAN2	0	LGGM	GRCh37	6	46216563	46216563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	7	17	.	.	ENST00000371374.1:c.296G>T	p.Arg99Leu	p.R99L	ENST00000371374	NM_001251974.1	99	cGt/cTt	0	1		UPI000013EB85	0	getma.org/pdb.php?prot=RCAN2_HUMAN&from=20&to=191&var=R53L	ENST00000330430		ENSG00000172348	3041		24	3.045		HGNC	p.R99L		RCAN2		SNV							ENST00000371374	protein_coding	getma.org/?cm=var&var=hg19,6,46216563,C,A&fts=all		hmmpanther:PTHR10300:SF5,hmmpanther:PTHR10300,Gene3D:3.30.70.330,Pfam_domain:PF04847,Superfamily_domains:SSF54928		R/L		A	medium	347/3186		getma.org/?cm=msa&ty=f&p=RCAN2_HUMAN&rb=20&re=191&var=R53L	deleterious(0)	Q86YJ0_HUMAN,B2R612_HUMAN				RCAN2,missense_variant,p.Arg99Leu,ENST00000371374,NM_001251974.1;RCAN2,missense_variant,p.Arg99Leu,ENST00000306764,NM_001251973.1;RCAN2,missense_variant,p.Arg53Leu,ENST00000330430,NM_005822.3;RCAN2,missense_variant,p.Arg99Leu,ENST00000405162,;							MODERATE	158/594	R53L	RCAN2_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000329454		CCDS43469.1			1	
TENM4	0	LGGM	GRCh37	11	78433895	78433895	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	24	18	.	.	ENST00000278550.7:c.3618C>A	p.Ile1206=	p.I1206=	ENST00000278550	NM_001098816.2	1206	atC/atA	0	1	1	UPI0000DD8112	0		ENST00000278550		ENSG00000149256	29945		42			HGNC	p.I1206I		TENM4		SNV							ENST00000278550	protein_coding			hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		I		T		4081/14000				G3CAT1_HUMAN			YES	TENM4,synonymous_variant,p.=,ENST00000278550,NM_001098816.2;							LOW	3618/8310		TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
MPP5	0	LGGM	GRCh37	14	67790509	67790509	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	21	18	.	.	ENST00000261681.4:c.1831A>T	p.Lys611Ter	p.K611*	ENST00000261681	NM_022474.3	611	Aaa/Taa	0	1	1	UPI0000046FB9	0	NA	ENST00000261681		ENSG00000072415	18669		39	0		HGNC	p.K577X		MPP5		SNV							ENST00000555925	protein_coding	getma.org/?cm=var&var=hg19,14,67790509,A,T&fts=all		PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF32,hmmpanther:PTHR23122,Pfam_domain:PF00625,Gene3D:3.40.50.300,SMART_domains:SM00072,Superfamily_domains:SSF52540		K/*		T	NA	2492/5552		NA		G3V2H1_HUMAN			YES	MPP5,stop_gained,p.Lys611Ter,ENST00000261681,NM_022474.3;MPP5,stop_gained,p.Lys577Ter,ENST00000555925,NM_001256550.1;ATP6V1D,intron_variant,,ENST00000553974,;ATP6V1D,intron_variant,,ENST00000554087,;							HIGH	1831/2028	K611*	MPP5_HUMAN			Transcript			.	ENSP00000261681		CCDS9779.1			1	
MPP5	0	LGGM	GRCh37	14	67790503	67790503	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	24	18	.	.	ENST00000261681.4:c.1825T>C	p.Leu609=	p.L609=	ENST00000261681	NM_022474.3	609	Ttg/Ctg	0	1	1	UPI0000046FB9	0		ENST00000261681		ENSG00000072415	18669		42			HGNC	p.L575L		MPP5		SNV							ENST00000555925	protein_coding			PROSITE_profiles:PS50052,hmmpanther:PTHR23122:SF32,hmmpanther:PTHR23122,Pfam_domain:PF00625,Gene3D:3.40.50.300,SMART_domains:SM00072,Superfamily_domains:SSF52540		L		C		2486/5552				G3V2H1_HUMAN			YES	MPP5,synonymous_variant,p.=,ENST00000261681,NM_022474.3;MPP5,synonymous_variant,p.=,ENST00000555925,NM_001256550.1;ATP6V1D,intron_variant,,ENST00000553974,;ATP6V1D,intron_variant,,ENST00000554087,;							LOW	1825/2028		MPP5_HUMAN			Transcript			.	ENSP00000261681		CCDS9779.1			1	
OR51Q1	0	LGGM	GRCh37	11	5444025	5444025	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	19	18	.	.	ENST00000300778.4:c.595T>A	p.Trp199Arg	p.W199R	ENST00000300778	NM_001004757.2	199	Tgg/Agg	0	1	1	UPI0000041BDB	0	NA	ENST00000300778		ENSG00000167360	14851		37	1.24		HGNC	p.W199R		OR51Q1		SNV							ENST00000300778	protein_coding	getma.org/?cm=var&var=hg19,11,5444025,T,A&fts=all		Superfamily_domains:SSF81321,Pfam_domain:PF13853,hmmpanther:PTHR26450,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF84,PROSITE_profiles:PS50262		W/R		A	low	685/1096		getma.org/?cm=msa&ty=f&p=O51Q1_HUMAN&rb=143&re=287&var=W199R	deleterious(0.02)				YES	OR51Q1,missense_variant,p.Trp199Arg,ENST00000300778,NM_001004757.2;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,;							MODERATE	595/954	W199R	O51Q1_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000300778		CCDS31381.1			1	
GPATCH2	0	LGGM	GRCh37	1	217793401	217793401	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	23	18	.	.	ENST00000366935.3:c.497G>A	p.Arg166His	p.R166H	ENST00000366935	NM_018040.2	166	cGc/cAc	0	1	1	UPI000004A012	0	NA	ENST00000366935		ENSG00000092978	25499		41	2.215		HGNC	p.R166H		GPATCH2		SNV							ENST00000366934	protein_coding	getma.org/?cm=var&var=hg19,1,217793401,C,T&fts=all		hmmpanther:PTHR14195,hmmpanther:PTHR14195:SF4,Low_complexity_(Seg):seg		R/H		T	medium	608/5851		getma.org/?cm=msa&ty=f&p=GPTC2_HUMAN&rb=1&re=200&var=R166H	deleterious(0.01)				YES	GPATCH2,missense_variant,p.Arg166His,ENST00000366935,NM_018040.2;GPATCH2,missense_variant,p.Arg166His,ENST00000366934,;							MODERATE	497/1587	R166H	GPTC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000355902		CCDS1518.1			1	
TARS	0	LGGM	GRCh37	5	33457452	33457452	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	48	21	.	.	ENST00000455217.2:c.1027G>T	p.Glu343Ter	p.E343*	ENST00000455217	NM_001258438.1	343	Gag/Tag	0	1		UPI00001BD8D0	0	NA	ENST00000265112		ENSG00000113407	11572		69	0		HGNC	p.E310X		TARS		SNV							ENST00000265112	protein_coding	getma.org/?cm=var&var=hg19,5,33457452,G,T&fts=all		Superfamily_domains:SSF55186,TIGRFAM_domain:TIGR00418,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF23,HAMAP:MF_00184		E/*		T	NA	1239/4314		NA		D6RBR8_HUMAN,D6R9F8_HUMAN				TARS,stop_gained,p.Glu310Ter,ENST00000265112,NM_152295.4;TARS,stop_gained,p.Glu310Ter,ENST00000502553,NM_001258437.1;TARS,stop_gained,p.Glu343Ter,ENST00000455217,NM_001258438.1;TARS,stop_gained,p.Glu189Ter,ENST00000414361,;TARS,stop_gained,p.Glu206Ter,ENST00000541634,;TARS,downstream_gene_variant,,ENST00000514259,;TARS,upstream_gene_variant,,ENST00000509410,;TARS,3_prime_UTR_variant,,ENST00000508361,;TARS,3_prime_UTR_variant,,ENST00000507716,;TARS,3_prime_UTR_variant,,ENST00000509731,;TARS,non_coding_transcript_exon_variant,,ENST00000504698,;TARS,downstream_gene_variant,,ENST00000513066,;TARS,downstream_gene_variant,,ENST00000505012,;							HIGH	928/2172	E310*	SYTC_HUMAN			Transcript			.	ENSP00000265112		CCDS3899.1			1	
MYO3A	0	LGGM	GRCh37	10	26446257	26446257	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	25	21	.	.	ENST00000265944.5:c.2812T>G	p.Leu938Val	p.L938V	ENST00000265944	NM_017433.4	938	Ttg/Gtg	0	1	1	UPI000014140A	0	getma.org/pdb.php?prot=MYO3A_HUMAN&from=340&to=1041&var=L938V	ENST00000265944		ENSG00000095777	7601		46	1.14		HGNC	p.L938V		MYO3A		SNV			1				ENST00000265944	protein_coding	getma.org/?cm=var&var=hg19,10,26446257,T,G&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		L/V		G	low	2978/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=340&re=1041&var=L938V	deleterious(0)				YES	MYO3A,missense_variant,p.Leu938Val,ENST00000265944,NM_017433.4;MYO3A,intron_variant,,ENST00000543632,;							MODERATE	2812/4851	L938V	MYO3A_HUMAN			Transcript		possibly_damaging(0.759)	.	ENSP00000265944		CCDS7148.1			1	
OR4N2	0	LGGM	GRCh37	14	20296244	20296244	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	120	23	.	.	ENST00000315947.1:c.637G>A	p.Gly213Arg	p.G213R	ENST00000315947	NM_001004723.1	213	Ggg/Agg	0	1	1	UPI000004A5DF	0	NA	ENST00000315947		ENSG00000176294	14742		143	2.2		HGNC	p.G213R	COSM222272	OR4N2		SNV						1	ENST00000315947	protein_coding	getma.org/?cm=var&var=hg19,14,20296244,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF155,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		G/R		A	medium	637/924		getma.org/?cm=msa&ty=f&p=OR4N2_HUMAN&rb=139&re=280&var=G213R	deleterious(0.01)	H3BTD8_HUMAN,G3V4W1_HUMAN,G3V3W5_HUMAN			YES	OR4N2,missense_variant,p.Gly213Arg,ENST00000315947,NM_001004723.1;OR4N2,3_prime_UTR_variant,,ENST00000568211,;OR4N2,downstream_gene_variant,,ENST00000557414,;OR4N2,downstream_gene_variant,,ENST00000557677,;					1		MODERATE	637/924	G213R	OR4N2_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000319601		CCDS32022.1			1	
CRB1	0	LGGM	GRCh37	1	197411442	197411442	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	T	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	36	23	.	.	ENST00000422250.1:n.222T>A		*74*	ENST00000422250				0	1	1	UPI0000073345	0		ENST00000367400		ENSG00000134376	2343		59			HGNC	p.Y1342F		CRB1		SNV			1				ENST00000484075	protein_coding							T		-/4932				B7Z824_HUMAN			YES	CRB1,3_prime_UTR_variant,,ENST00000367397,;CRB1,intron_variant,,ENST00000367400,NM_201253.2;CRB1,intron_variant,,ENST00000535699,NM_001257965.1;CRB1,intron_variant,,ENST00000367399,NM_001193640.1;CRB1,intron_variant,,ENST00000544212,;CRB1,intron_variant,,ENST00000538660,NM_001257966.1;CRB1,intron_variant,,ENST00000448952,;RP11-75C23.1,non_coding_transcript_exon_variant,,ENST00000422250,;CRB1,missense_variant,p.Tyr1342Phe,ENST00000484075,;							MODIFIER	-/4221		CRUM1_HUMAN			Transcript			.	ENSP00000356370		CCDS1390.1			1	
HDAC9	0	LGGM	GRCh37	7	18993803	18993803	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	100	26	.	.	ENST00000441542.2:c.2972G>A	p.Ser991Asn	p.S991N	ENST00000441542	NM_178425.2	991	aGc/aAc	0	1		UPI000012C3B3	0	getma.org/pdb.php?prot=HDAC9_HUMAN&from=978&to=1009&var=S988N	ENST00000432645		ENSG00000048052	14065		126	1.245		HGNC	p.S947N		HDAC9		SNV			1				ENST00000401921	protein_coding	getma.org/?cm=var&var=hg19,7,18993803,G,A&fts=all		Gene3D:3.40.800.20,PIRSF_domain:PIRSF037911,hmmpanther:PTHR10625,hmmpanther:PTHR10625:SF116,Superfamily_domains:SSF52768		S/N		A	low	2963/3099		getma.org/?cm=msa&ty=f&p=HDAC9_HUMAN&rb=978&re=1009&var=S988N	deleterious(0.03)	Q75N15_HUMAN,Q75N14_HUMAN,Q75N10_HUMAN,Q75N08_HUMAN,C9JLX1_HUMAN,C9JD56_HUMAN				HDAC9,missense_variant,p.Ser988Asn,ENST00000406451,NM_178423.1;HDAC9,missense_variant,p.Ser947Asn,ENST00000401921,;HDAC9,missense_variant,p.Ser991Asn,ENST00000441542,NM_178425.2;HDAC9,missense_variant,p.Ser988Asn,ENST00000432645,NM_058176.2;HDAC9,non_coding_transcript_exon_variant,,ENST00000496026,;HDAC9,non_coding_transcript_exon_variant,,ENST00000490851,;NPM1P13,upstream_gene_variant,,ENST00000452663,;							MODERATE	2963/3036	S988N	HDAC9_HUMAN			Transcript		benign(0.005)	.	ENSP00000410337		CCDS47555.1			1	
LOXHD1	0	LGGM	GRCh37	18	44139512	44139512	+	upstream_gene_variant	5'Flank	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	18	26	.	.				ENST00000300591	NM_001145472.2			0	1	1	UPI0000456B8D	0	getma.org/pdb.php?prot=LOXH1_HUMAN&from=746&to=861&var=D761Y	ENST00000300591		ENSG00000167210	26521		44	3.64	237	HGNC	p.D761Y		LOXHD1		SNV			1				ENST00000398722	protein_coding	getma.org/?cm=var&var=hg19,18,44139512,C,A&fts=all						A	high	-/3970		getma.org/?cm=msa&ty=f&p=LOXH1_HUMAN&rb=746&re=861&var=D761Y		C9J269_HUMAN,C9IYQ1_HUMAN			YES	LOXHD1,missense_variant,p.Asp1039Tyr,ENST00000536736,NM_144612.6;LOXHD1,missense_variant,p.Asp761Tyr,ENST00000398722,;LOXHD1,intron_variant,,ENST00000441551,;LOXHD1,upstream_gene_variant,,ENST00000300591,NM_001145472.2;LOXHD1,upstream_gene_variant,,ENST00000582408,;LOXHD1,upstream_gene_variant,,ENST00000441893,;LOXHD1,upstream_gene_variant,,ENST00000579038,;LOXHD1,upstream_gene_variant,,ENST00000419859,;LOXHD1,non_coding_transcript_exon_variant,,ENST00000335730,;LOXHD1,upstream_gene_variant,,ENST00000536111,;							MODIFIER	-/3345	D761Y	LOXH1_HUMAN			Transcript			.	ENSP00000300591		CCDS45861.1			1	
SCAMP5	0	LGGM	GRCh37	15	75309020	75309020	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112306	H112306N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	6	26	.	.	ENST00000361900.6:c.223T>G	p.Phe75Val	p.F75V	ENST00000361900	NM_001178111.1	75	Ttt/Gtt	0	1	1	UPI00000700E5	0	NA	ENST00000361900		ENSG00000198794	30386		32	0.435		HGNC	p.F75V		SCAMP5		SNV							ENST00000562212	protein_coding	getma.org/?cm=var&var=hg19,15,75309020,T,G&fts=all		Transmembrane_helices:TMhelix,Pfam_domain:PF04144,hmmpanther:PTHR10687,hmmpanther:PTHR10687:SF5		F/V		G	neutral	430/3427		getma.org/?cm=msa&ty=f&p=SCAM5_HUMAN&rb=4&re=180&var=F75V	tolerated(0.06)	H3BTD1_HUMAN,H3BT30_HUMAN,H3BS22_HUMAN,H3BP89_HUMAN,H3BNW6_HUMAN,H3BNH7_HUMAN,H3BNB3_HUMAN			YES	SCAMP5,missense_variant,p.Phe75Val,ENST00000361900,NM_001178111.1;SCAMP5,missense_variant,p.Phe75Val,ENST00000425597,NM_001178112.1,NM_138967.3;SCAMP5,missense_variant,p.Phe75Val,ENST00000562212,;SCAMP5,missense_variant,p.Phe75Val,ENST00000568018,;SCAMP5,missense_variant,p.Phe75Val,ENST00000567920,;SCAMP5,missense_variant,p.Phe75Val,ENST00000562327,;SCAMP5,missense_variant,p.Phe75Val,ENST00000566872,;SCAMP5,missense_variant,p.Phe75Val,ENST00000564779,;SCAMP5,intron_variant,,ENST00000545456,;SCAMP5,upstream_gene_variant,,ENST00000568081,;SCAMP5,downstream_gene_variant,,ENST00000568119,;SCAMP5,downstream_gene_variant,,ENST00000565989,;SCAMP5,non_coding_transcript_exon_variant,,ENST00000565923,;SCAMP5,intron_variant,,ENST00000564141,;SCAMP5,intron_variant,,ENST00000562765,;SCAMP5,intron_variant,,ENST00000568423,;SCAMP5,intron_variant,,ENST00000567529,;SCAMP5,intron_variant,,ENST00000564491,;SCAMP5,downstream_gene_variant,,ENST00000567535,;							MODERATE	223/708	F75V	SCAM5_HUMAN			Transcript		benign(0.006)	.	ENSP00000355387		CCDS45306.1			1	
TENM2	0	LGGM	GRCh37	5	167517577	167517577	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112306	H112306N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	49	31	.	.	ENST00000518659.1:c.1516-2A>T		p.X506_splice	ENST00000518659	NM_001122679.1			0	1	1	UPI0001C48FC2	0		ENST00000518659		ENSG00000145934	29943		80			HGNC	-		TENM2		SNV							ENST00000518659	protein_coding							T		-/8550				G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,splice_acceptor_variant,,ENST00000519204,;TENM2,splice_acceptor_variant,,ENST00000403607,;TENM2,splice_acceptor_variant,,ENST00000518659,NM_001122679.1;TENM2,splice_acceptor_variant,,ENST00000545108,;TENM2,splice_acceptor_variant,,ENST00000520394,;CTB-178M22.1,intron_variant,,ENST00000517408,;							HIGH	1516/8325		TEN2_HUMAN			Transcript			.	ENSP00000429430					1	
CDH6	0	LGGM	GRCh37	5	31294165	31294165	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	45	38	.	.	ENST00000265071.2:c.325G>C	p.Asp109His	p.D109H	ENST00000265071	NM_004932.3	109	Gac/Cac	0	1	1	UPI0000126D9B	0	getma.org/pdb.php?prot=CADH6_HUMAN&from=59&to=150&var=D109H	ENST00000265071		ENSG00000113361	1765		83	3.005		HGNC	p.D109H		CDH6		SNV							ENST00000265071	protein_coding	getma.org/?cm=var&var=hg19,5,31294165,G,C&fts=all		Prints_domain:PR00205,Superfamily_domains:SSF49313,SMART_domains:SM00112,Pfam_domain:PF00028,Gene3D:2.60.40.60,hmmpanther:PTHR24027:SF290,hmmpanther:PTHR24027,PROSITE_profiles:PS50268		D/H		C	medium	590/8476		getma.org/?cm=msa&ty=f&p=CADH6_HUMAN&rb=59&re=150&var=D109H	deleterious(0)				YES	CDH6,missense_variant,p.Asp109His,ENST00000265071,NM_004932.3;CDH6,missense_variant,p.Asp54His,ENST00000514738,;CDH6,upstream_gene_variant,,ENST00000508132,;							MODERATE	325/2373	D109H	CADH6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000265071		CCDS3894.1			1	
FLVCR2	0	LGGM	GRCh37	14	76091001	76091001	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	31	39	.	.	ENST00000238667.4:c.858G>A	p.Leu286=	p.L286=	ENST00000238667	NM_017791.2	286	ctG/ctA	0	1	1	UPI0000073CD6	0		ENST00000238667		ENSG00000119686	20105		70			HGNC	p.L34L		FLVCR2		SNV			1				ENST00000555058	protein_coding			Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR10924,hmmpanther:PTHR10924:SF3,Superfamily_domains:SSF103473		L		A		1214/3629				G3V391_HUMAN			YES	FLVCR2,synonymous_variant,p.=,ENST00000238667,NM_017791.2;FLVCR2,synonymous_variant,p.=,ENST00000539311,NM_001195283.1;FLVCR2,synonymous_variant,p.=,ENST00000556856,;FLVCR2,synonymous_variant,p.=,ENST00000553587,;FLVCR2,synonymous_variant,p.=,ENST00000555058,;FLVCR2,intron_variant,,ENST00000553341,;FLVCR2,non_coding_transcript_exon_variant,,ENST00000556241,;FLVCR2,intron_variant,,ENST00000554496,;FLVCR2,intron_variant,,ENST00000555385,;							LOW	858/1581		FLVC2_HUMAN			Transcript			.	ENSP00000238667		CCDS9844.1			1	
LCE2A	0	LGGM	GRCh37	1	152671453	152671453	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112306	H112306N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	54	43	.	.	ENST00000368779.1:c.76C>A	p.Pro26Thr	p.P26T	ENST00000368779	NM_178428.3	26	Cca/Aca	0	1	1	UPI00001927D5	0	NA	ENST00000368779		ENSG00000187173	29469		97	3.03		HGNC	p.P26T		LCE2A		SNV							ENST00000368779	protein_coding	getma.org/?cm=var&var=hg19,1,152671453,C,A&fts=all		Pfam_domain:PF14672,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF18,Low_complexity_(Seg):seg		P/T		A	medium	127/592		getma.org/?cm=msa&ty=f&p=LCE2A_HUMAN&rb=1&re=104&var=P26T	tolerated_low_confidence(0.14)				YES	LCE2A,missense_variant,p.Pro26Thr,ENST00000368779,NM_178428.3;							MODERATE	76/321	P26T	LCE2A_HUMAN			Transcript		unknown(0)	.	ENSP00000357768		CCDS1021.1			1	
TAF1L	0	LGGM	GRCh37	9	32633431	32633431	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112306	H112306N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112306N.bam, H112306T.bam	Illumina HiSeq	19	47	.	.	ENST00000242310.4:c.2147C>T	p.Ala716Val	p.A716V	ENST00000242310	NM_153809.2	716	gCa/gTa	0	1	1	UPI000007408A	0	NA	ENST00000242310		ENSG00000122728	18056		66	2.235		HGNC	p.A716V		TAF1L		SNV							ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32633431,G,A&fts=all		hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,Pfam_domain:PF12157,PIRSF_domain:PIRSF003047		A/V		A	medium	2237/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=584&re=1047&var=A716V	deleterious(0.01)				YES	TAF1L,missense_variant,p.Ala716Val,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							MODERATE	2147/5481	A716V	TAF1L_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000418379		CCDS35003.1			1	
ALPP	0	LGGM	GRCh37	2	233246046	233246046	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	10	2	.	.	ENST00000392027.2:c.1278C>A	p.Gly426=	p.G426=	ENST00000392027	NM_001632.3	426	ggC/ggA	0	1	1	UPI0000131FF9	0		ENST00000392027		ENSG00000163283	439		12			HGNC	p.G426G	COSM720250	ALPP		SNV						1	ENST00000392027	protein_coding			hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF31,Gene3D:3.40.720.10,Pfam_domain:PF00245,SMART_domains:SM00098,Superfamily_domains:SSF53649		G		A		1547/2971							YES	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,;					1		LOW	1278/1608		PPB1_HUMAN			Transcript			.	ENSP00000375881		CCDS2490.1			1	
ACR	0	LGGM	GRCh37	22	51183126	51183126	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	12	2	.	.	ENST00000216139.5:c.757G>T	p.Ala253Ser	p.A253S	ENST00000216139	NM_001097.2	253	Gcc/Tcc	0	1	1	UPI00001AE5ED	0	getma.org/pdb.php?prot=ACRO_HUMAN&from=43&to=285&var=A253S	ENST00000216139		ENSG00000100312	126		14	-0.495		HGNC	p.A253S		ACR		SNV							ENST00000216139	protein_coding	getma.org/?cm=var&var=hg19,22,51183126,G,T&fts=all		Gene3D:2.40.10.10,Pfam_domain:PF00089,PIRSF_domain:PIRSF001141,PROSITE_profiles:PS50240,hmmpanther:PTHR24252,SMART_domains:SM00020,Superfamily_domains:SSF50494		A/S		T	neutral	797/1433		getma.org/?cm=msa&ty=f&p=ACRO_HUMAN&rb=43&re=285&var=A253S	tolerated(0.4)				YES	ACR,missense_variant,p.Ala253Ser,ENST00000216139,NM_001097.2;ACR,downstream_gene_variant,,ENST00000529621,;AC002056.5,upstream_gene_variant,,ENST00000532913,;ACR,non_coding_transcript_exon_variant,,ENST00000527761,;ACR,downstream_gene_variant,,ENST00000533930,;							MODERATE	757/1266	A253S	ACRO_HUMAN			Transcript		benign(0.153)	.	ENSP00000216139		CCDS14101.1			1	
IGKV2D-24	0	LGGM	GRCh37	2	90043662	90043662	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	25	3	.	.	ENST00000462693.1:c.26G>T	p.Gly9Val	p.G9V	ENST00000462693		9	gGg/gTg	0	1	1	UPI0000176EBA	0		ENST00000462693		ENSG00000241566	5797		28			HGNC	p.G9V		IGKV2D-24		SNV							ENST00000462693	IG_V_gene			Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF128,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		G/V		T		56/390			tolerated(0.48)				YES	IGKV2D-24,missense_variant,p.Gly9Val,ENST00000462693,;IGKV2D-23,upstream_gene_variant,,ENST00000518179,;							MODERATE	26/360					Transcript		possibly_damaging(0.46)	.	ENSP00000417136					1	
CHAF1A	0	LGGM	GRCh37	19	4432068	4432068	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	35	3	.	.	ENST00000301280.5:c.2067G>T	p.Val689=	p.V689=	ENST00000301280	NM_005483.2	689	gtG/gtT	0	1	1	UPI00002030F8	0		ENST00000301280		ENSG00000167670	1910		38			HGNC	p.V689V		CHAF1A		SNV							ENST00000301280	protein_coding			Pfam_domain:PF15539,hmmpanther:PTHR15272,hmmpanther:PTHR15272:SF0		V		T		2168/3339							YES	CHAF1A,synonymous_variant,p.=,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,;							LOW	2067/2871		CAF1A_HUMAN			Transcript			.	ENSP00000301280		CCDS32875.1			1	
RPS3A	0	LGGM	GRCh37	4	152025708	152025708	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	5	3	.	.	ENST00000274065.4:c.758C>A	p.Ala253Asp	p.A253D	ENST00000274065	NM_001006.4	253	gCt/gAt	0	1	1	UPI000013D9EC	0	NA	ENST00000274065		ENSG00000145425	10421		8	1.795		HGNC	p.A216D		RPS3A		SNV							ENST00000506126	protein_coding	getma.org/?cm=var&var=hg19,4,152025708,C,A&fts=all		HAMAP:MF_03122,hmmpanther:PTHR11830		A/D		A	low	838/934		getma.org/?cm=msa&ty=f&p=RS3A_HUMAN&rb=223&re=264&var=A253D	tolerated(0.1)	D6RGE0_HUMAN,D6RED7_HUMAN,D6RB09_HUMAN,D6RAT0_HUMAN,D6RAS7_HUMAN,D6R9B6_HUMAN			YES	RPS3A,missense_variant,p.Ala216Asp,ENST00000514682,;RPS3A,missense_variant,p.Ala253Asp,ENST00000274065,NM_001006.4;RPS3A,missense_variant,p.Ala216Asp,ENST00000506126,;RPS3A,missense_variant,p.Ala197Asp,ENST00000515792,;RPS3A,missense_variant,p.Ala134Asp,ENST00000509736,;RPS3A,3_prime_UTR_variant,,ENST00000512690,;RPS3A,downstream_gene_variant,,ENST00000322686,;RPS3A,downstream_gene_variant,,ENST00000510993,;RPS3A,downstream_gene_variant,,ENST00000512797,;RPS3A,downstream_gene_variant,,ENST00000507327,;RPS3A,downstream_gene_variant,,ENST00000505243,;RPS3A,downstream_gene_variant,,ENST00000508783,;RPS3A,downstream_gene_variant,,ENST00000503002,;SNORD73,downstream_gene_variant,,ENST00000364394,;SNORD73A,downstream_gene_variant,,ENST00000386062,NR_000007.1;SH3D19,intron_variant,,ENST00000604922,;RPS3A,downstream_gene_variant,,ENST00000507485,;RPS3A,downstream_gene_variant,,ENST00000515818,;							MODERATE	758/795	A253D	RS3A_HUMAN			Transcript		benign(0.027)	.	ENSP00000346050		CCDS3775.1			1	
TGFBR2	0	LGGM	GRCh37	3	30732996	30732996	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	27	3	.	.	ENST00000359013.4:c.1684C>A	p.Arg562Ser	p.R562S	ENST00000359013	NM_001024847.2	562	Cgc/Agc	0	1		UPI000011DD7E	0	getma.org/pdb.php?prot=TGFR2_HUMAN&from=244&to=538&var=R537S	ENST00000295754		ENSG00000163513	11773		30	2.855		HGNC	p.R562S		TGFBR2		SNV			1				ENST00000359013	protein_coding	getma.org/?cm=var&var=hg19,3,30732996,C,A&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,PIRSF_domain:PIRSF037393,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF55,PROSITE_profiles:PS50011		R/S		A	medium	1991/4621		getma.org/?cm=msa&ty=f&p=TGFR2_HUMAN&rb=244&re=538&var=R537S	deleterious(0)	A3QNQ0_HUMAN				TGFBR2,missense_variant,p.Arg537Ser,ENST00000295754,NM_003242.5;TGFBR2,missense_variant,p.Arg562Ser,ENST00000359013,NM_001024847.2;							MODERATE	1609/1704	R537S	TGFR2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000295754		CCDS2648.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266125	41266125	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	41	3	.	.	ENST00000349496.5:c.122C>T	p.Thr41Ile	p.T41I	ENST00000349496	NM_001904.3	41	aCc/aTc	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=T41I	ENST00000349496	pathogenic	ENSG00000168036	2514		44	2.445		HGNC	p.T41I	rs121913413,COSM5676	CTNNB1		SNV			1			1,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266125,C,T&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		T/I		T	medium	402/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=T41I	deleterious(0)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Thr41Ile,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Thr41Ile,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Thr34Ile,ENST00000453024,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000405570,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000450969,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000431914,;CTNNB1,missense_variant,p.Thr41Ile,ENST00000441708,;CTNNB1,missense_variant,p.Thr34Ile,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	122/2346	T41I	CTNB1_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000344456		CCDS2694.1			1	
BAI2	0	LGGM	GRCh37	1	32193864	32193864	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	1	4	.	.	ENST00000373658.3:c.4434G>A	p.Arg1478=	p.R1478=	ENST00000373658	NM_001703.2	1478	cgG/cgA	0	1	1	UPI0000E2A42F	0		ENST00000373658		ENSG00000121753	944		5			HGNC	p.R1087R		BAI2		SNV							ENST00000440175	protein_coding			Prints_domain:PR01694		R		T		4776/5403							YES	BAI2,synonymous_variant,p.=,ENST00000373658,NM_001703.2;BAI2,synonymous_variant,p.=,ENST00000373655,;BAI2,synonymous_variant,p.=,ENST00000257070,;BAI2,synonymous_variant,p.=,ENST00000398542,;BAI2,synonymous_variant,p.=,ENST00000527361,;BAI2,synonymous_variant,p.=,ENST00000398556,;BAI2,synonymous_variant,p.=,ENST00000398547,;BAI2,synonymous_variant,p.=,ENST00000398538,;BAI2,synonymous_variant,p.=,ENST00000440175,;BAI2,non_coding_transcript_exon_variant,,ENST00000465256,;BAI2,non_coding_transcript_exon_variant,,ENST00000465239,;BAI2,downstream_gene_variant,,ENST00000484002,;BAI2,non_coding_transcript_exon_variant,,ENST00000525655,;BAI2,non_coding_transcript_exon_variant,,ENST00000530999,;							LOW	4434/4758		BAI2_HUMAN			Transcript			.	ENSP00000362762		CCDS346.2			1	
GPR108	0	LGGM	GRCh37	19	6732118	6732118	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	6	4	.	.	ENST00000264080.7:c.1174G>T	p.Ala392Ser	p.A392S	ENST00000264080	NM_001080452.1	392	Gcc/Tcc	0	1	1	UPI00001D8222	0	NA	ENST00000264080		ENSG00000125734	17829		10	0.29		HGNC	p.A392S		GPR108		SNV							ENST00000264080	protein_coding	getma.org/?cm=var&var=hg19,19,6732118,C,A&fts=all		Pfam_domain:PF06814,hmmpanther:PTHR21229,hmmpanther:PTHR21229:SF11		A/S		A	neutral	1201/2057		getma.org/?cm=msa&ty=f&p=GP108_HUMAN&rb=214&re=503&var=A392S	tolerated(0.4)	Q96I30_HUMAN,M0QZ03_HUMAN,G5E9L6_HUMAN			YES	GPR108,missense_variant,p.Ala392Ser,ENST00000264080,NM_001080452.1;GPR108,missense_variant,p.Ala150Ser,ENST00000430424,;GPR108,missense_variant,p.Ala42Ser,ENST00000594034,;GPR108,missense_variant,p.Ala126Ser,ENST00000598955,;GPR108,downstream_gene_variant,,ENST00000597298,;C3,upstream_gene_variant,,ENST00000600744,;GPR108,downstream_gene_variant,,ENST00000601716,;GPR108,upstream_gene_variant,,ENST00000594500,;GPR108,upstream_gene_variant,,ENST00000537722,;GPR108,upstream_gene_variant,,ENST00000598626,;GPR108,3_prime_UTR_variant,,ENST00000597706,;GPR108,3_prime_UTR_variant,,ENST00000595908,;GPR108,non_coding_transcript_exon_variant,,ENST00000600773,;GPR108,downstream_gene_variant,,ENST00000595108,;GPR108,downstream_gene_variant,,ENST00000601402,;GPR108,downstream_gene_variant,,ENST00000598052,;GPR108,downstream_gene_variant,,ENST00000595620,;GPR108,downstream_gene_variant,,ENST00000597043,;							MODERATE	1174/1632	A392S	GP108_HUMAN			Transcript		benign(0.019)	.	ENSP00000264080		CCDS42479.1			1	
PDYN	0	LGGM	GRCh37	20	1961196	1961196	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	56	4	.	.	ENST00000217305.2:c.538C>T	p.Arg180Cys	p.R180C	ENST00000217305	NM_024411.4	180	Cgc/Tgc	0	1	1	UPI000012FE6A	0	NA	ENST00000217305		ENSG00000101327	8820		60	3.005		HGNC	p.R180C	rs370283678,COSM75901	PDYN		SNV	A:0		1			0,1	ENST00000539905	protein_coding	getma.org/?cm=var&var=hg19,20,1961196,G,A&fts=all		Prints_domain:PR01028,hmmpanther:PTHR11438,hmmpanther:PTHR11438:SF4		R/C	A:0.0001	A	medium	764/2555	4.50E-05	getma.org/?cm=msa&ty=f&p=PDYN_HUMAN&rb=70&re=254&var=R180C	deleterious(0)	Q2YEM6_HUMAN,Q2YEL0_HUMAN,B4DIB7_HUMAN			YES	PDYN,missense_variant,p.Arg180Cys,ENST00000217305,NM_024411.4,NM_001190898.2,NM_001190892.1;PDYN,missense_variant,p.Arg180Cys,ENST00000539905,NM_001190899.2;PDYN,missense_variant,p.Arg180Cys,ENST00000540134,NM_001190900.1;RP4-684O24.5,intron_variant,,ENST00000446562,;					0,1		MODERATE	538/765	R180C	PDYN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000217305	2.47E-05	CCDS13023.1			1	
COL14A1	0	LGGM	GRCh37	8	121170384	121170384	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	33	5	.	.	ENST00000297848.3:c.104G>T	p.Arg35Met	p.R35M	ENST00000297848	NM_021110.2	35	aGg/aTg	0	1	1	UPI000046D377	0	getma.org/pdb.php?prot=COEA1_HUMAN&from=31&to=111&var=R35M	ENST00000297848		ENSG00000187955	2191		38	1.67		HGNC	p.R35M		COL14A1		SNV			1				ENST00000297848	protein_coding	getma.org/?cm=var&var=hg19,8,121170384,G,T&fts=all		PROSITE_profiles:PS50853,Gene3D:2.60.40.10,Pfam_domain:PF00041,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/M		T	low	374/6466		getma.org/?cm=msa&ty=f&p=COEA1_HUMAN&rb=31&re=111&var=R35M	deleterious(0.01)				YES	COL14A1,missense_variant,p.Arg35Met,ENST00000297848,NM_021110.2;COL14A1,missense_variant,p.Arg35Met,ENST00000247781,;COL14A1,missense_variant,p.Arg35Met,ENST00000309791,;COL14A1,missense_variant,p.Arg35Met,ENST00000537875,;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,;COL14A1,missense_variant,p.Arg35Met,ENST00000498051,;							MODERATE	104/5391	R35M	COEA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000297848		CCDS34938.1			1	
PROL1	0	LGGM	GRCh37	4	71275515	71275515	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	34	5	.	.	ENST00000399575.2:c.470C>T	p.Pro157Leu	p.P157L	ENST00000399575	NM_021225.4	157	cCc/cTc	0	1	1	UPI000020BE52	0	NA	ENST00000399575		ENSG00000171199	17279		39	1.1		HGNC	p.P157L		PROL1		SNV							ENST00000399575	protein_coding	getma.org/?cm=var&var=hg19,4,71275515,C,T&fts=all		hmmpanther:PTHR14179,hmmpanther:PTHR14179:SF8,Low_complexity_(Seg):seg		P/L		T	low	644/1040		getma.org/?cm=msa&ty=f&p=PROL1_HUMAN&rb=1&re=200&var=P157L	tolerated_low_confidence(0.12)				YES	PROL1,missense_variant,p.Pro157Leu,ENST00000399575,NM_021225.4;PROL1,non_coding_transcript_exon_variant,,ENST00000514338,;PROL1,non_coding_transcript_exon_variant,,ENST00000505023,;							MODERATE	470/747	P157L	PROL1_HUMAN			Transcript		unknown(0)	.	ENSP00000382485		CCDS43235.1			1	
HTR7	0	LGGM	GRCh37	10	92508930	92508930	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	17	5	.	.	ENST00000336152.3:c.961C>A	p.Arg321=	p.R321=	ENST00000336152	NM_019859.3	321	Cga/Aga	0	1	1	UPI0000049B68	0		ENST00000336152		ENSG00000148680	5302		22			HGNC	p.R321R		HTR7		SNV							ENST00000336152	protein_coding			Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,Pfam_domain:PF00001,hmmpanther:PTHR24247:SF104,hmmpanther:PTHR24247,PROSITE_profiles:PS50262		R		T		988/3126							YES	HTR7,synonymous_variant,p.=,ENST00000371721,;HTR7,synonymous_variant,p.=,ENST00000336152,NM_019859.3;HTR7,synonymous_variant,p.=,ENST00000371719,NM_019860.3;HTR7,synonymous_variant,p.=,ENST00000277874,NM_000872.4;							LOW	961/1440		5HT7R_HUMAN			Transcript			.	ENSP00000337949		CCDS7408.1			1	
NEXN	0	LGGM	GRCh37	1	78407849	78407849	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	37	5	.	.	ENST00000334785.7:c.1615C>T	p.Arg539Cys	p.R539C	ENST00000334785	NM_144573.3	539	Cgc/Tgc	0	1	1	UPI000022ABDC	0	NA	ENST00000334785		ENSG00000162614	29557		42	2.16		HGNC	p.R539C	rs373680705	NEXN	6.09E-05	SNV	T:0		1	0.000103			ENST00000334785	protein_coding	getma.org/?cm=var&var=hg19,1,78407849,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22964,Low_complexity_(Seg):seg		R/C	T:0.0001	T	medium	1799/2607	1.51E-05	getma.org/?cm=msa&ty=f&p=NEXN_HUMAN&rb=1&re=566&var=R539C	deleterious(0)	B4DDI0_HUMAN			YES	NEXN,missense_variant,p.Arg475Cys,ENST00000330010,NM_001172309.1;NEXN,missense_variant,p.Arg439Cys,ENST00000342754,;NEXN,missense_variant,p.Arg539Cys,ENST00000334785,NM_144573.3;NEXN,missense_variant,p.Arg525Cys,ENST00000457030,;NEXN,non_coding_transcript_exon_variant,,ENST00000480732,;FUBP1,downstream_gene_variant,,ENST00000489495,;FUBP1,downstream_gene_variant,,ENST00000492405,;FUBP1,downstream_gene_variant,,ENST00000474632,;FUBP1,downstream_gene_variant,,ENST00000488814,;FUBP1,downstream_gene_variant,,ENST00000483894,;FUBP1,downstream_gene_variant,,ENST00000492724,;FUBP1,downstream_gene_variant,,ENST00000480673,;NEXN,non_coding_transcript_exon_variant,,ENST00000470735,;FUBP1,downstream_gene_variant,,ENST00000294623,;							MODERATE	1615/2028	R539C	NEXN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000333938	2.48E-05	CCDS41351.1			1	
CSMD3	0	LGGM	GRCh37	8	113697648	113697648	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	51	5	.	.	ENST00000297405.5:c.2469C>G	p.Asn823Lys	p.N823K	ENST00000297405	NM_198123.1	823	aaC/aaG	0	1	1	UPI00001E0584	0	getma.org/pdb.php?prot=CSMD3_HUMAN&from=721&to=826&var=N823K	ENST00000297405		ENSG00000164796	19291		56	0.75		HGNC	p.N823K		CSMD3		SNV							ENST00000297405	protein_coding	getma.org/?cm=var&var=hg19,8,113697648,G,C&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		N/K		C	neutral	2714/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=721&re=826&var=N823K	tolerated(0.08)				YES	CSMD3,missense_variant,p.Asn823Lys,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Asn783Lys,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Asn823Lys,ENST00000352409,;CSMD3,missense_variant,p.Asn719Lys,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Asn163Lys,ENST00000339701,;							MODERATE	2469/11124	N823K	CSMD3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000297405		CCDS6315.1			1	
UBE2M	0	LGGM	GRCh37	19	59067719	59067719	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	19	5	.	.	ENST00000253023.3:c.375A>G	p.Ile125Met	p.I125M	ENST00000253023	NM_003969.3	125	atA/atG	0	1	1	UPI0000020ECC	0	getma.org/pdb.php?prot=UBC12_HUMAN&from=33&to=168&var=I125M	ENST00000253023		ENSG00000130725	12491		24	3.305		HGNC	p.I66M		UBE2M		SNV							ENST00000596985	protein_coding	getma.org/?cm=var&var=hg19,19,59067719,T,C&fts=all		PROSITE_profiles:PS50127,hmmpanther:PTHR24067,Gene3D:3.10.110.10,Pfam_domain:PF00179,SMART_domains:SM00212,Superfamily_domains:SSF54495		I/M		C	medium	954/1508		getma.org/?cm=msa&ty=f&p=UBC12_HUMAN&rb=33&re=168&var=I125M	deleterious(0)	M0QX69_HUMAN			YES	UBE2M,missense_variant,p.Ile125Met,ENST00000253023,NM_003969.3;UBE2M,missense_variant,p.Ile28Met,ENST00000595957,;UBE2M,missense_variant,p.Ile66Met,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,;							MODERATE	375/552	I125M	UBC12_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000253023		CCDS12987.1			1	
ABL1	0	LGGM	GRCh37	9	133759714	133759714	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	13	6	.	.	ENST00000318560.5:c.2037A>T	p.Ser679=	p.S679=	ENST00000318560	NM_005157.4	679	tcA/tcT	0	1		UPI000013D6D4	0		ENST00000318560		ENSG00000097007	76		19			HGNC	p.S698S		ABL1		SNV			1				ENST00000372348	protein_coding			hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87		S		T		2418/5766								ABL1,synonymous_variant,p.=,ENST00000318560,NM_005157.4;ABL1,synonymous_variant,p.=,ENST00000372348,NM_007313.2;							LOW	2037/3393		ABL1_HUMAN			Transcript			.	ENSP00000323315		CCDS35166.1			1	
FAM74A3	0	LGGM	GRCh37	9	40715884	40715884	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	G	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	7	6	.	.	ENST00000604146.1:n.223C>G		*75*	ENST00000604146				0	1	1		0		ENST00000604146		ENSG00000204844	32031		13			HGNC	p.D12E		FAM74A3		SNV							ENST00000355345	lincRNA							G		223/1745							YES	FAM74A3,non_coding_transcript_exon_variant,,ENST00000604146,;FAM74A3,non_coding_transcript_exon_variant,,ENST00000355345,;RP11-395E19.5,upstream_gene_variant,,ENST00000432614,;RP11-395E19.2,upstream_gene_variant,,ENST00000433824,;							MODIFIER						Transcript			.						1	
AQP1	0	LGGM	GRCh37	7	30961729	30961729	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	22	6	.	.	ENST00000311813.4:c.433G>A	p.Gly145Arg	p.G145R	ENST00000311813	NM_198098.2	145	Ggg/Agg	0	1	1	UPI000005339A	0	getma.org/pdb.php?prot=AQP1_HUMAN&from=4&to=227&var=G145R	ENST00000311813		ENSG00000240583	633		28	2.1		HGNC	p.G145R	rs773049028	AQP1		SNV			1				ENST00000311813	protein_coding	getma.org/?cm=var&var=hg19,7,30961729,G,A&fts=all		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		G/R		A	medium	488/2752	1.50E-05	getma.org/?cm=msa&ty=f&p=AQP1_HUMAN&rb=4&re=227&var=G145R	deleterious(0.01)	Q6JSD7_HUMAN,B4DNW4_HUMAN			YES	AQP1,missense_variant,p.Gly145Arg,ENST00000311813,NM_198098.2;AQP1,missense_variant,p.Gly62Arg,ENST00000441328,NM_001185060.1;AQP1,missense_variant,p.Gly322Arg,ENST00000509504,;AQP1,missense_variant,p.Gly205Arg,ENST00000434909,;AQP1,missense_variant,p.Gly94Arg,ENST00000409611,NM_001185061.1;AQP1,missense_variant,p.Gly30Arg,ENST00000409899,NM_001185062.1;AQP1,non_coding_transcript_exon_variant,,ENST00000482461,;							MODERATE	433/810	G145R	AQP1_HUMAN			Transcript		possibly_damaging(0.776)	.	ENSP00000311165	8.24E-06	CCDS5431.1			1	
WHSC1	0	LGGM	GRCh37	4	1962854	1962854	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	29	6	.	.	ENST00000382891.5:c.3348C>A	p.His1116Gln	p.H1116Q	ENST00000382891	NM_133335.3	1116	caC/caA	0	1		UPI0000073F57	0	getma.org/pdb.php?prot=NSD2_HUMAN&from=1074&to=1180&var=H1116Q	ENST00000382891		ENSG00000109685	12766		35	2.315		HGNC	p.H1116Q		WHSC1		SNV			1				ENST00000382892	protein_coding	getma.org/?cm=var&var=hg19,4,1962854,C,A&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199		H/Q		A	medium	3487/7534		getma.org/?cm=msa&ty=f&p=NSD2_HUMAN&rb=1074&re=1180&var=H1116Q	deleterious(0.01)	D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN				WHSC1,missense_variant,p.His1116Gln,ENST00000382895,NM_133330.2;WHSC1,missense_variant,p.His1116Gln,ENST00000382892,NM_133331.2;WHSC1,missense_variant,p.His1116Gln,ENST00000382891,NM_133335.3;WHSC1,missense_variant,p.His1116Gln,ENST00000508803,NM_001042424.2;WHSC1,missense_variant,p.His464Gln,ENST00000382888,;WHSC1,downstream_gene_variant,,ENST00000514329,;WHSC1,non_coding_transcript_exon_variant,,ENST00000482415,;WHSC1,downstream_gene_variant,,ENST00000505643,;WHSC1,downstream_gene_variant,,ENST00000503207,;WHSC1,3_prime_UTR_variant,,ENST00000312087,;WHSC1,3_prime_UTR_variant,,ENST00000353275,;WHSC1,downstream_gene_variant,,ENST00000507094,;AL132868.1,upstream_gene_variant,,ENST00000327785,;							MODERATE	3348/4098	H1116Q	NSD2_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000372347		CCDS33940.1			1	
MTOR	0	LGGM	GRCh37	1	11316237	11316237	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	3	6	.	.	ENST00000361445.4:c.517C>T	p.Arg173Cys	p.R173C	ENST00000361445	NM_004958.3	173	Cgt/Tgt	0	1	1	UPI000012ABD3	0	NA	ENST00000361445		ENSG00000198793	3942	0.000203	9	3.33		HGNC	p.R173C	rs748631718	MTOR		SNV			1				ENST00000361445	protein_coding	getma.org/?cm=var&var=hg19,1,11316237,G,A&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		R/C		A	medium	594/8677		getma.org/?cm=msa&ty=f&p=MTOR_HUMAN&rb=1&re=200&var=R173C	deleterious(0)	Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,missense_variant,p.Arg173Cys,ENST00000361445,NM_004958.3;							MODERATE	517/7650	R173C	MTOR_HUMAN			Transcript		possibly_damaging(0.869)	.	ENSP00000354558	1.65E-05	CCDS127.1			1	
CCNC	0	LGGM	GRCh37	6	100010822	100010822	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	21	6	.	.	ENST00000520429.1:c.35T>C	p.Leu12Ser	p.L12S	ENST00000520429	NM_005190.3	12	tTg/tCg	0	1	1	UPI0000169CFB	0	getma.org/pdb.php?prot=CCNC_HUMAN&from=1&to=13&var=L12S	ENST00000520429		ENSG00000112237	1581		27	0		HGNC	p.L12S		CCNC		SNV							ENST00000520371	protein_coding	getma.org/?cm=var&var=hg19,6,100010822,A,G&fts=all		hmmpanther:PTHR10026,Gene3D:1.10.472.10,PIRSF_domain:PIRSF028758,Superfamily_domains:SSF47954		L/S		G	neutral	481/2473		getma.org/?cm=msa&ty=f&p=CCNC_HUMAN&rb=1&re=43&var=L12S	tolerated(0.72)	Q7Z4L3_HUMAN,E5RIH8_HUMAN,E5RFX8_HUMAN			YES	CCNC,missense_variant,p.Leu12Ser,ENST00000520429,NM_005190.3,NM_001013399.1;CCNC,missense_variant,p.Leu12Ser,ENST00000520371,;CCNC,missense_variant,p.Leu12Ser,ENST00000369220,;CCNC,missense_variant,p.Leu12Ser,ENST00000482541,;CCNC,missense_variant,p.Leu12Ser,ENST00000518714,;CCNC,missense_variant,p.Leu59Ser,ENST00000369217,;CCNC,splice_region_variant,,ENST00000523799,;CCNC,splice_region_variant,,ENST00000524049,;CCNC,intron_variant,,ENST00000523985,;CCNC,upstream_gene_variant,,ENST00000486428,;CCNC,splice_region_variant,,ENST00000521017,;CCNC,missense_variant,p.Leu12Ser,ENST00000326298,;CCNC,missense_variant,p.Leu12Ser,ENST00000484049,;CCNC,missense_variant,p.Leu12Ser,ENST00000523961,;CCNC,splice_region_variant,,ENST00000523541,;CCNC,splice_region_variant,,ENST00000523639,;CCNC,upstream_gene_variant,,ENST00000523310,;							MODERATE	35/852	L12S	CCNC_HUMAN			Transcript		benign(0.012)	.	ENSP00000428982		CCDS34502.1			1	
SYNE1	0	LGGM	GRCh37	6	152660464	152660464	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	38	8	.	.	ENST00000367255.5:c.12263C>A	p.Thr4088Asn	p.T4088N	ENST00000367255	NM_182961.3	4088	aCc/aAc	0	1	1	UPI000204AF58	0	NA	ENST00000367255		ENSG00000131018	17089		46	2.045		HGNC	p.T4017N		SYNE1		SNV			1				ENST00000448038	protein_coding	getma.org/?cm=var&var=hg19,6,152660464,G,T&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF267,Superfamily_domains:SSF46966		T/N		T	medium	12865/27748		getma.org/?cm=msa&ty=f&p=SYNE1_HUMAN&rb=3920&re=4119&var=T4088N					YES	SYNE1,missense_variant,p.Thr4088Asn,ENST00000367255,NM_182961.3;SYNE1,missense_variant,p.Thr4088Asn,ENST00000265368,;SYNE1,missense_variant,p.Thr4017Asn,ENST00000448038,;SYNE1,missense_variant,p.Thr4017Asn,ENST00000423061,NM_033071.3;SYNE1,missense_variant,p.Thr3953Asn,ENST00000341594,;SYNE1,non_coding_transcript_exon_variant,,ENST00000471834,;							MODERATE	12263/26394	T4088N	SYNE1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356224		CCDS5236.2			1	
CHRD	0	LGGM	GRCh37	3	184100318	184100318	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	29	9	.	.	ENST00000204604.1:c.841G>A	p.Glu281Lys	p.E281K	ENST00000204604	NM_003741.2	281	Gag/Aag	0	1	1	UPI000013C64D	0	NA	ENST00000204604		ENSG00000090539	1949		38	1.795		HGNC	p.E281K		CHRD		SNV							ENST00000420973	protein_coding	getma.org/?cm=var&var=hg19,3,184100318,G,A&fts=all		Pfam_domain:PF07452,PIRSF_domain:PIRSF002496,PROSITE_profiles:PS50933,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF263,SMART_domains:SM00754		E/K		A	low	1087/3521		getma.org/?cm=msa&ty=f&p=CHRD_HUMAN&rb=281&re=398&var=E281K	deleterious(0)	Q8N2W7_HUMAN			YES	CHRD,missense_variant,p.Glu281Lys,ENST00000204604,NM_003741.2;CHRD,missense_variant,p.Glu281Lys,ENST00000450923,;CHRD,missense_variant,p.Glu281Lys,ENST00000348986,;CHRD,splice_region_variant,,ENST00000545352,;EIF2B5,intron_variant,,ENST00000444495,;THPO,upstream_gene_variant,,ENST00000204615,NM_000460.2,NM_001177597.1,NM_001177598.1;THPO,upstream_gene_variant,,ENST00000445696,;CHRD,downstream_gene_variant,,ENST00000310236,;CHRD,downstream_gene_variant,,ENST00000482805,;CHRD,missense_variant,p.Glu281Lys,ENST00000420973,;CHRD,splice_region_variant,,ENST00000470150,;CHRD,splice_region_variant,,ENST00000448472,;CHRD,splice_region_variant,,ENST00000356534,;CHRD,splice_region_variant,,ENST00000461120,;CHRD,non_coding_transcript_exon_variant,,ENST00000460627,;CHRD,upstream_gene_variant,,ENST00000464833,;CHRD,downstream_gene_variant,,ENST00000461684,;CHRD,downstream_gene_variant,,ENST00000496527,;CHRD,downstream_gene_variant,,ENST00000485883,;CHRD,downstream_gene_variant,,ENST00000482014,;CHRD,downstream_gene_variant,,ENST00000486066,;CHRD,downstream_gene_variant,,ENST00000459711,;							MODERATE	841/2868	E281K	CHRD_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000204604		CCDS3266.1			1	
BRDT	0	LGGM	GRCh37	1	92442608	92442608	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	9	9	.	.	ENST00000362005.3:c.627A>C	p.Lys209Asn	p.K209N	ENST00000362005	NM_001242805.1	209	aaA/aaC	0	1	1	UPI000013D0E1	0	NA	ENST00000362005		ENSG00000137948	1105		18	2.4		HGNC	p.K163N		BRDT		SNV							ENST00000394530	protein_coding	getma.org/?cm=var&var=hg19,1,92442608,A,C&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF133		K/N		C	medium	1045/3409		getma.org/?cm=msa&ty=f&p=BRDT_HUMAN&rb=122&re=242&var=K209N	deleterious(0.03)	F8W0H2_HUMAN,F8VZ63_HUMAN,C9JQ27_HUMAN,C9JMP1_HUMAN,C9JLZ2_HUMAN,C9JJU3_HUMAN,C9JDL5_HUMAN,C9JD82_HUMAN,C9J1F7_HUMAN			YES	BRDT,missense_variant,p.Lys136Asn,ENST00000370389,NM_001242810.1;BRDT,missense_variant,p.Lys209Asn,ENST00000362005,NM_001242805.1;BRDT,missense_variant,p.Lys209Asn,ENST00000399546,NM_001242806.1,NM_207189.2;BRDT,missense_variant,p.Lys209Asn,ENST00000402388,NM_001726.3;BRDT,missense_variant,p.Lys163Asn,ENST00000394530,NM_001242808.1,NM_001242807.1;BRDT,missense_variant,p.Lys209Asn,ENST00000426141,;BRDT,downstream_gene_variant,,ENST00000427104,;BRDT,downstream_gene_variant,,ENST00000440509,;BRDT,downstream_gene_variant,,ENST00000423434,;BRDT,downstream_gene_variant,,ENST00000448194,;BRDT,upstream_gene_variant,,ENST00000484781,;							MODERATE	627/2844	K209N	BRDT_HUMAN			Transcript		benign(0.054)	.	ENSP00000354568		CCDS735.1			1	
ACE	0	LGGM	GRCh37	17	61568615	61568615	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	19	9	.	.	ENST00000290866.4:c.2785A>C	p.Thr929Pro	p.T929P	ENST00000290866	NM_000789.3	929	Acc/Ccc	0	1	1	UPI000002B8AD	0	getma.org/pdb.php?prot=ACE_HUMAN&from=634&to=1228&var=T929P	ENST00000290866		ENSG00000159640	2707		28	3.465		HGNC	p.T929P		ACE		SNV			1				ENST00000428043	protein_coding	getma.org/?cm=var&var=hg19,17,61568615,A,C&fts=all		hmmpanther:PTHR10514:SF19,hmmpanther:PTHR10514,Pfam_domain:PF01401,Superfamily_domains:SSF55486		T/P		C	medium	2809/4199		getma.org/?cm=msa&ty=f&p=ACE_HUMAN&rb=634&re=1228&var=T929P	deleterious(0.01)	Q3KRI5_HUMAN,D3DU13_HUMAN			YES	ACE,missense_variant,p.Thr355Pro,ENST00000490216,;ACE,missense_variant,p.Thr929Pro,ENST00000290866,NM_000789.3;ACE,missense_variant,p.Thr929Pro,ENST00000428043,;ACE,missense_variant,p.Thr355Pro,ENST00000290863,NM_152830.2;ACE,missense_variant,p.Thr355Pro,ENST00000413513,NM_001178057.1;ACE,missense_variant,p.Thr175Pro,ENST00000421982,;ACE,missense_variant,p.Thr185Pro,ENST00000582761,;ACE,upstream_gene_variant,,ENST00000579409,;ACE,intron_variant,,ENST00000577418,;ACE,missense_variant,p.Thr355Pro,ENST00000577647,;ACE,3_prime_UTR_variant,,ENST00000579314,;ACE,3_prime_UTR_variant,,ENST00000578839,;ACE,non_coding_transcript_exon_variant,,ENST00000584865,;ACE,non_coding_transcript_exon_variant,,ENST00000583645,;ACE,downstream_gene_variant,,ENST00000582005,;ACE,downstream_gene_variant,,ENST00000579726,;ACE,downstream_gene_variant,,ENST00000579204,;ACE,upstream_gene_variant,,ENST00000582244,;ACE,upstream_gene_variant,,ENST00000578679,;							MODERATE	2785/3921	T929P	ACE_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000290866		CCDS11637.1			1	
WNK4	0	LGGM	GRCh37	17	40945708	40945708	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	16	9	.	.	ENST00000246914.5:c.2256T>G	p.Thr752=	p.T752=	ENST00000246914	NM_032387.4	752	acT/acG	0	1	1	UPI000006FC0F	0		ENST00000246914		ENSG00000126562	14544		25			HGNC	p.T752T		WNK4		SNV			1				ENST00000246914	protein_coding			hmmpanther:PTHR13902:SF52,hmmpanther:PTHR13902		T		G		2277/4001				B0LPI0_HUMAN			YES	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,;							LOW	2256/3732		WNK4_HUMAN			Transcript			.	ENSP00000246914		CCDS11439.1			1	
ATXN7L3	0	LGGM	GRCh37	17	42271658	42271658	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	19	10	.	.	ENST00000454077.2:c.1038G>A	p.Thr346=	p.T346=	ENST00000454077	NM_020218.1	346	acG/acA	0	1		UPI0000DA6BB8	0		ENST00000389384		ENSG00000087152	25416		29			HGNC	p.T339T	rs566167003,COSM4066871	ATXN7L3	0.000182	SNV				0.000102		0,1	ENST00000389384	protein_coding		T:0	hmmpanther:PTHR15117,hmmpanther:PTHR15117:SF6		T		T		1326/3811	9.00E-05			K7ENZ2_HUMAN,K7EMZ3_HUMAN,K7EKG9_HUMAN,K7EJK2_HUMAN,B4DKS1_HUMAN	T:0	T:0		ATXN7L3,synonymous_variant,p.=,ENST00000389384,NM_001098833.1;ATXN7L3,synonymous_variant,p.=,ENST00000454077,NM_020218.1;ATXN7L3,synonymous_variant,p.=,ENST00000591295,;TMUB2,downstream_gene_variant,,ENST00000319511,NM_177441.2;TMUB2,downstream_gene_variant,,ENST00000592825,;TMUB2,downstream_gene_variant,,ENST00000587989,;TMUB2,downstream_gene_variant,,ENST00000538716,NM_001076674.1;TMUB2,downstream_gene_variant,,ENST00000357984,NM_024107.2;TMUB2,downstream_gene_variant,,ENST00000589785,;TMUB2,downstream_gene_variant,,ENST00000589184,;TMUB2,downstream_gene_variant,,ENST00000587172,;TMUB2,downstream_gene_variant,,ENST00000446571,;TMUB2,downstream_gene_variant,,ENST00000590235,;TMUB2,downstream_gene_variant,,ENST00000589856,;ATXN7L3,downstream_gene_variant,,ENST00000587097,;TMUB2,downstream_gene_variant,,ENST00000587630,;ATXN7L3,downstream_gene_variant,,ENST00000589805,;ATXN7L3,downstream_gene_variant,,ENST00000590169,;ATXN7L3,downstream_gene_variant,,ENST00000590537,;CTB-175E5.7,upstream_gene_variant,,ENST00000586560,;ATXN7L3,non_coding_transcript_exon_variant,,ENST00000593073,;TMUB2,downstream_gene_variant,,ENST00000587326,;TMUB2,downstream_gene_variant,,ENST00000588413,;ATXN7L3,downstream_gene_variant,,ENST00000589607,;TMUB2,downstream_gene_variant,,ENST00000587775,;ATXN7L3,downstream_gene_variant,,ENST00000591807,;ATXN7L3,downstream_gene_variant,,ENST00000586688,;ATXN7L3,downstream_gene_variant,,ENST00000587022,;		T:0.0002			0,1		LOW	1017/1044		AT7L3_HUMAN		T:0	Transcript			.	ENSP00000374035	8.27E-05	CCDS42345.1		T:0.001	1	
ZC3H18	0	LGGM	GRCh37	16	88644076	88644076	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	12	10	.	.	ENST00000301011.5:c.545C>T	p.Ala182Val	p.A182V	ENST00000301011	NM_144604.3	182	gCt/gTt	0	1	1	UPI00001FF676	0	NA	ENST00000301011		ENSG00000158545	25091		22	1.1		HGNC	p.A182V		ZC3H18		SNV							ENST00000452588	protein_coding	getma.org/?cm=var&var=hg19,16,88644076,C,T&fts=all		hmmpanther:PTHR12506,hmmpanther:PTHR12506:SF10,Low_complexity_(Seg):seg		A/V		T	low	745/3729		getma.org/?cm=msa&ty=f&p=ZCH18_HUMAN&rb=1&re=951&var=A182V	tolerated_low_confidence(0.06)	H3BRH3_HUMAN,B3KRL4_HUMAN			YES	ZC3H18,missense_variant,p.Ala182Val,ENST00000301011,NM_144604.3;ZC3H18,missense_variant,p.Ala182Val,ENST00000452588,;ZC3H18,intron_variant,,ENST00000569435,;							MODERATE	545/2862	A182V	ZCH18_HUMAN			Transcript		unknown(0)	.	ENSP00000301011		CCDS10967.1			1	
PAPOLG	0	LGGM	GRCh37	2	61014191	61014191	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	13	10	.	.	ENST00000238714.3:c.1276C>T	p.His426Tyr	p.H426Y	ENST00000238714	NM_022894.3	426	Cat/Tat	0	1	1	UPI00000704EB	0	getma.org/pdb.php?prot=PAPOG_HUMAN&from=365&to=507&var=H426Y	ENST00000238714		ENSG00000115421	14982		23	1.5		HGNC	p.H94Y		PAPOLG		SNV							ENST00000412217	protein_coding	getma.org/?cm=var&var=hg19,2,61014191,C,T&fts=all		Gene3D:3.30.70.590,Pfam_domain:PF04926,PIRSF_domain:PIRSF018425,hmmpanther:PTHR10682,hmmpanther:PTHR10682:SF6,Superfamily_domains:SSF55003		H/Y		T	low	1525/4263		getma.org/?cm=msa&ty=f&p=PAPOG_HUMAN&rb=365&re=507&var=H426Y	deleterious(0.03)	Q9H968_HUMAN,Q53T81_HUMAN,Q53T17_HUMAN,Q2TAI9_HUMAN,F8WAT4_HUMAN			YES	PAPOLG,missense_variant,p.His94Tyr,ENST00000412217,;PAPOLG,missense_variant,p.His426Tyr,ENST00000238714,NM_022894.3;PAPOLG,downstream_gene_variant,,ENST00000483370,;PAPOLG,3_prime_UTR_variant,,ENST00000414060,;PAPOLG,3_prime_UTR_variant,,ENST00000453839,;PAPOLG,non_coding_transcript_exon_variant,,ENST00000496283,;PAPOLG,upstream_gene_variant,,ENST00000470208,;							MODERATE	1276/2211	H426Y	PAPOG_HUMAN			Transcript		benign(0.317)	.	ENSP00000238714		CCDS1863.1			1	
OR9G4	0	LGGM	GRCh37	11	56511096	56511096	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	23	10	.	.	ENST00000302957.3:c.192C>G	p.Ile64Met	p.I64M	ENST00000302957	NM_001005284.1	64	atC/atG	0	1	1	UPI00001D77DB	0	getma.org/pdb.php?prot=OR9G4_HUMAN&from=1&to=153&var=I64M	ENST00000302957		ENSG00000172457	15322		33	3.315		HGNC	p.I64M		OR9G4		SNV							ENST00000302957	protein_coding	getma.org/?cm=var&var=hg19,11,56511096,G,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Superfamily_domains:SSF81321		I/M		C	medium	192/985		getma.org/?cm=msa&ty=f&p=OR9G4_HUMAN&rb=1&re=153&var=I64M	deleterious(0)				YES	OR9G4,missense_variant,p.Ile64Met,ENST00000302957,NM_001005284.1;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;							MODERATE	192/984	I64M	OR9G4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000307515		CCDS31537.1			1	
RPS6KA3	0	LGGM	GRCh37	X	20195114	20195114	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	30	11	.	.	ENST00000379565.3:c.934G>T	p.Gly312Cys	p.G312C	ENST00000379565	NM_004586.2	312	Ggt/Tgt	0	1	1	UPI000012DB2E	0	getma.org/pdb.php?prot=KS6A3_HUMAN&from=68&to=327&var=G312C	ENST00000379565		ENSG00000177189	10432		41	3.06		HGNC	p.G284C		RPS6KA3		SNV			1				ENST00000544447	protein_coding	getma.org/?cm=var&var=hg19,X,20195114,C,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24351,hmmpanther:PTHR24351:SF58,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,PIRSF_domain:PIRSF000606,Superfamily_domains:SSF56112		G/C		A	medium	1142/7918		getma.org/?cm=msa&ty=f&p=KS6A3_HUMAN&rb=68&re=327&var=G312C	deleterious(0)	Q7Z2J4_HUMAN,Q7Z2J3_HUMAN,B7ZB17_HUMAN,B1AXG2_HUMAN			YES	RPS6KA3,missense_variant,p.Gly312Cys,ENST00000379565,NM_004586.2;RPS6KA3,missense_variant,p.Gly284Cys,ENST00000544447,;RPS6KA3,missense_variant,p.Gly284Cys,ENST00000540702,;RPS6KA3,missense_variant,p.Gly283Cys,ENST00000379548,;RPS6KA3,upstream_gene_variant,,ENST00000479809,;							MODERATE	934/2223	G312C	KS6A3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000368884		CCDS14197.1			1	
APOC1	0	LGGM	GRCh37	19	45419543	45419543	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	28	12	.	.	ENST00000588750.1:c.155T>A	p.Ile52Asn	p.I52N	ENST00000588750		52	aTc/aAc	0	1	1	UPI0000125C19	0		ENST00000588750		ENSG00000130208	607		40			HGNC	p.I52N		APOC1		SNV							ENST00000590334	protein_coding			Gene3D:1iojA00,Pfam_domain:PF04691,hmmpanther:PTHR16565		I/N		A		480/689			deleterious(0)	B2R526_HUMAN,K7ERI9_HUMAN,K7EKP1_HUMAN			YES	APOC1,missense_variant,p.Ile52Asn,ENST00000588750,;APOC1,missense_variant,p.Ile52Asn,ENST00000592885,;APOC1,missense_variant,p.Ile52Asn,ENST00000588802,;APOC1,missense_variant,p.Ile52Asn,ENST00000252491,NM_001645.3;APOC1,missense_variant,p.Ile52Asn,ENST00000592535,;APOC1,missense_variant,p.Ile52Asn,ENST00000586638,;APOC1,missense_variant,p.Ile52Asn,ENST00000589078,;APOC1,intron_variant,,ENST00000589781,;APOC1,missense_variant,p.Ile52Asn,ENST00000590334,;APOC1,3_prime_UTR_variant,,ENST00000592176,;							MODERATE	155/252		APOC1_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000465356		CCDS12648.1			1	
CPNE4	0	LGGM	GRCh37	3	131300501	131300501	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	30	13	.	.	ENST00000512055.1:c.789G>A	p.Trp263Ter	p.W263*	ENST00000512055		263	tgG/tgA	0	1		UPI0000127C14	0	NA	ENST00000429747		ENSG00000196353	2317		43	0		HGNC	p.W263X		CPNE4		SNV							ENST00000429747	protein_coding	getma.org/?cm=var&var=hg19,3,131300501,C,T&fts=all		hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF4,Superfamily_domains:SSF49562		W/*		T	NA	1224/2564		NA		Q4G168_HUMAN,D6RI99_HUMAN,D6RFY4_HUMAN,D6RCT2_HUMAN				CPNE4,stop_gained,p.Trp263Ter,ENST00000512055,;CPNE4,stop_gained,p.Trp263Ter,ENST00000429747,NM_130808.1;CPNE4,stop_gained,p.Trp263Ter,ENST00000511604,;CPNE4,stop_gained,p.Trp281Ter,ENST00000512332,;CPNE4,stop_gained,p.Trp281Ter,ENST00000502818,;CPNE4,non_coding_transcript_exon_variant,,ENST00000515418,;							HIGH	789/1674	W263*	CPNE4_HUMAN			Transcript			.	ENSP00000411904		CCDS3072.1			1	
OR5D18	0	LGGM	GRCh37	11	55587551	55587551	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	45	13	.	.	ENST00000333976.4:c.446C>G	p.Ser149Cys	p.S149C	ENST00000333976	NM_001001952.1	149	tCc/tGc	0	1	1	UPI0000046197	0	NA	ENST00000333976		ENSG00000186119	15285		58	1.52		HGNC	p.S149C		OR5D18		SNV							ENST00000333976	protein_coding	getma.org/?cm=var&var=hg19,11,55587551,C,G&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/C		G	low	466/988		getma.org/?cm=msa&ty=f&p=OR5DI_HUMAN&rb=140&re=284&var=S149C	tolerated(0.35)				YES	OR5D18,missense_variant,p.Ser149Cys,ENST00000333976,NM_001001952.1;							MODERATE	446/942	S149C	OR5DI_HUMAN			Transcript		benign(0.152)	.	ENSP00000335025		CCDS31510.1			1	
DCT	0	LGGM	GRCh37	13	95121215	95121215	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	62	13	.	.	ENST00000446125.1:c.380G>A	p.Arg127Gln	p.R127Q	ENST00000446125	NM_001129889.1	127	cGg/cAg	0	1		UPI0000000A09	0	NA	ENST00000377028		ENSG00000080166	2709		75	3.71		HGNC	p.R127Q	rs763851565	DCT		SNV							ENST00000377028	protein_coding	getma.org/?cm=var&var=hg19,13,95121215,C,T&fts=all		hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF4,Gene3D:1.10.1280.10,Superfamily_domains:SSF48056		R/Q		T	high	794/4568	1.50E-05	getma.org/?cm=msa&ty=f&p=TYRP2_HUMAN&rb=1&re=178&var=R127Q	deleterious(0)	Q9NQD8_HUMAN,Q0PK43_HUMAN				DCT,missense_variant,p.Arg127Gln,ENST00000377028,NM_001922.3;DCT,missense_variant,p.Arg127Gln,ENST00000446125,NM_001129889.1;AL139318.1,upstream_gene_variant,,ENST00000390768,;DCT,upstream_gene_variant,,ENST00000490854,;DCT,non_coding_transcript_exon_variant,,ENST00000472871,;DCT,upstream_gene_variant,,ENST00000483392,;							MODERATE	380/1560	R127Q	TYRP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366227	8.24E-06	CCDS9470.1			1	
VN1R2	0	LGGM	GRCh37	19	53762217	53762217	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	10	14	.	.	ENST00000341702.3:c.589A>T	p.Arg197Trp	p.R197W	ENST00000341702	NM_173856.2	197	Agg/Tgg	0	1	1	UPI0000062046	0	NA	ENST00000341702		ENSG00000196131	19872		24	1.155		HGNC	p.R197W		VN1R2		SNV							ENST00000341702	protein_coding	getma.org/?cm=var&var=hg19,19,53762217,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24062:SF28,hmmpanther:PTHR24062,Pfam_domain:PF03402,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01534		R/W		T	low	673/1311		getma.org/?cm=msa&ty=f&p=VN1R2_HUMAN&rb=115&re=374&var=R197W	deleterious(0.04)				YES	VN1R2,missense_variant,p.Arg197Trp,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,;							MODERATE	589/1188	R197W	VN1R2_HUMAN			Transcript		possibly_damaging(0.448)	.	ENSP00000351244		CCDS12862.1			1	
NHSL2	0	LGGM	GRCh37	X	71359565	71359565	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	14	14	.	.	ENST00000540800.1:c.2167A>G	p.Thr723Ala	p.T723A	ENST00000540800	NM_001013627.2	723	Aca/Gca	0	1		UPI0001D3B33F	0	NA	ENST00000510661		ENSG00000204131	33737		28	2.395		HGNC	p.T357A	COSM1125026,COSM1125025	NHSL2		SNV						1,1	ENST00000373677	protein_coding	getma.org/?cm=var&var=hg19,X,71359565,A,G&fts=all		Pfam_domain:PF15273,hmmpanther:PTHR23039,hmmpanther:PTHR23039:SF2		T/A		G	medium	1540/3082		getma.org/?cm=msa&ty=f&p=NHSL2_HUMAN&rb=1&re=707&var=T357A	deleterious(0)	D6RBM4_HUMAN				NHSL2,missense_variant,p.Thr357Ala,ENST00000373677,;NHSL2,missense_variant,p.Thr723Ala,ENST00000540800,NM_001013627.2;NHSL2,missense_variant,p.Thr492Ala,ENST00000510661,;NHSL2,missense_variant,p.Thr357Ala,ENST00000535692,;RP11-262D11.2,upstream_gene_variant,,ENST00000456343,;					1,1		MODERATE	1474/2535	T357A				Transcript		probably_damaging(0.994)	.	ENSP00000424079					1	
ASH1L	0	LGGM	GRCh37	1	155330168	155330168	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	32	14	.	.	ENST00000392403.3:c.6719A>T	p.Tyr2240Phe	p.Y2240F	ENST00000392403	NM_018489.2	2240	tAt/tTt	0	1		UPI000013D5D2	0	getma.org/pdb.php?prot=ASH1L_HUMAN&from=2156&to=2261&var=Y2245F	ENST00000368346		ENSG00000116539	19088		46	-1.75		HGNC	p.Y2240F		ASH1L		SNV							ENST00000392403	protein_coding	getma.org/?cm=var&var=hg19,1,155330168,T,A&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR22884:SF311,hmmpanther:PTHR22884,Pfam_domain:PF00856,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199		Y/F		A	neutral	7374/11942		getma.org/?cm=msa&ty=f&p=ASH1L_HUMAN&rb=2156&re=2261&var=Y2245F	tolerated_low_confidence(1)					ASH1L,missense_variant,p.Tyr2245Phe,ENST00000368346,;ASH1L,missense_variant,p.Tyr2240Phe,ENST00000392403,NM_018489.2;RNU6-106P,upstream_gene_variant,,ENST00000384405,;							MODERATE	6734/8910	Y2245F	ASH1L_HUMAN			Transcript		benign(0.33)	.	ENSP00000357330					1	
C4orf50	0	LGGM	GRCh37	4	5975479	5975479	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	15	14	.	.	ENST00000531445.1:c.1737G>C	p.Gly579=	p.G579=	ENST00000531445		579	ggG/ggC	0	1		UPI00001C0FBD	0		ENST00000324058		ENSG00000181215	33766		29			HGNC	p.G105G		C4orf50		SNV							ENST00000324058	protein_coding			Pfam_domain:PF15030		G		G		405/3178								C4orf50,synonymous_variant,p.=,ENST00000531445,;C4orf50,synonymous_variant,p.=,ENST00000324058,;							LOW	315/831		CD050_HUMAN			Transcript			.	ENSP00000317287					1	
INHBE	0	LGGM	GRCh37	12	57850333	57850333	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	27	14	.	.	ENST00000266646.2:c.755A>G	p.His252Arg	p.H252R	ENST00000266646	NM_031479.3	252	cAt/cGt	0	1	1	UPI000012D42C	0	getma.org/pdb.php?prot=INHBE_HUMAN&from=244&to=350&var=H252R	ENST00000266646		ENSG00000139269	24029		41	0		HGNC	p.H197R		INHBE		SNV							ENST00000547970	protein_coding	getma.org/?cm=var&var=hg19,12,57850333,A,G&fts=all		Gene3D:2.10.90.10,Pfam_domain:PF00019,PROSITE_profiles:PS51362,hmmpanther:PTHR11848,hmmpanther:PTHR11848:SF6,SMART_domains:SM00204,Superfamily_domains:SSF57501		H/R		G	neutral	971/2429		getma.org/?cm=msa&ty=f&p=INHBE_HUMAN&rb=244&re=350&var=H252R	tolerated(0.07)				YES	INHBE,missense_variant,p.His252Arg,ENST00000266646,NM_031479.3;INHBE,missense_variant,p.His197Arg,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;GLI1,upstream_gene_variant,,ENST00000532291,;GLI1,upstream_gene_variant,,ENST00000528432,;INHBE,non_coding_transcript_exon_variant,,ENST00000551553,;INHBE,non_coding_transcript_exon_variant,,ENST00000553033,;GLI1,upstream_gene_variant,,ENST00000530789,;							MODERATE	755/1053	H252R	INHBE_HUMAN			Transcript		benign(0.051)	.	ENSP00000266646		CCDS8939.1			1	
AKNAD1	0	LGGM	GRCh37	1	109359681	109359681	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	23	15	.	.	ENST00000370001.3:c.2368A>G	p.Ile790Val	p.I790V	ENST00000370001	NM_152763.4	790	Ata/Gta	0	1	1	UPI00004700A0	0	NA	ENST00000370001		ENSG00000162641	28398		38	0		HGNC	p.I790V		AKNAD1		SNV							ENST00000370001	protein_coding	getma.org/?cm=var&var=hg19,1,109359681,T,C&fts=all		hmmpanther:PTHR21510:SF14,hmmpanther:PTHR21510		I/V		C	neutral	2637/3053		getma.org/?cm=msa&ty=f&p=AKND1_HUMAN&rb=635&re=834&var=I790V	deleterious(0.01)				YES	AKNAD1,missense_variant,p.Ile790Val,ENST00000370001,NM_152763.4;AKNAD1,non_coding_transcript_exon_variant,,ENST00000477908,;AKNAD1,3_prime_UTR_variant,,ENST00000474186,;AKNAD1,non_coding_transcript_exon_variant,,ENST00000466413,;							MODERATE	2368/2511	I790V	AKND1_HUMAN			Transcript		benign(0.002)	.	ENSP00000359018		CCDS791.2			1	
PCDHA5	0	LGGM	GRCh37	5	140203391	140203391	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	28	15	.	.	ENST00000529859.1:c.2031C>T	p.Ala677=	p.A677=	ENST00000529859	NM_018908.2	677	gcC/gcT	0	1	1	UPI00001273CD	0		ENST00000529859		ENSG00000204965	8671		43			HGNC	p.A677A		PCDHA5		SNV							ENST00000529619	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF111		A		T		2031/5218							YES	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,;							LOW	2031/2811		PCDA5_HUMAN			Transcript			.	ENSP00000436557		CCDS54917.1			1	
PLD4	0	LGGM	GRCh37	14	105397150	105397150	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	29	15	.	.	ENST00000392593.4:c.789C>A	p.Thr263=	p.T263=	ENST00000392593	NM_138790.2	263	acC/acA	0	1	1	UPI0000374BC9	0		ENST00000392593		ENSG00000166428	23792		44			HGNC	p.T263T		PLD4		SNV							ENST00000392593	protein_coding			hmmpanther:PTHR10185:SF8,hmmpanther:PTHR10185,Pfam_domain:PF13918,Gene3D:3.30.870.10,Superfamily_domains:SSF56024		T		A		957/1961				G3V472_HUMAN			YES	PLD4,synonymous_variant,p.=,ENST00000540372,;PLD4,synonymous_variant,p.=,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,;							LOW	789/1521		PLD4_HUMAN			Transcript			.	ENSP00000376372		CCDS9995.2			1	
AGBL2	0	LGGM	GRCh37	11	47736181	47736181	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	26	15	.	.	ENST00000525123.1:c.22C>T	p.His8Tyr	p.H8Y	ENST00000525123	NM_024783.3	8	Cac/Tac	0	1	1	UPI00001A95E3	0	NA	ENST00000525123		ENSG00000165923	26296		41	0		HGNC	p.H8Y		AGBL2		SNV							ENST00000529154	protein_coding	getma.org/?cm=var&var=hg19,11,47736181,G,A&fts=all				H/Y		A	neutral	308/3577		getma.org/?cm=msa&ty=f&p=CBPC2_HUMAN&rb=1&re=99&var=H8Y	deleterious_low_confidence(0.01)	E9PJH3_HUMAN,E9PI49_HUMAN			YES	AGBL2,missense_variant,p.His8Tyr,ENST00000525123,NM_024783.3;AGBL2,missense_variant,p.His8Tyr,ENST00000357610,;AGBL2,missense_variant,p.His8Tyr,ENST00000298861,;AGBL2,missense_variant,p.His8Tyr,ENST00000528244,;AGBL2,missense_variant,p.His8Tyr,ENST00000532595,;AGBL2,missense_variant,p.His8Tyr,ENST00000529154,;AGBL2,missense_variant,p.His8Tyr,ENST00000530969,;FNBP4,downstream_gene_variant,,ENST00000263773,NM_015308.2;AGBL2,upstream_gene_variant,,ENST00000530577,;AGBL2,non_coding_transcript_exon_variant,,ENST00000529712,;AGBL2,non_coding_transcript_exon_variant,,ENST00000531835,;AGBL2,non_coding_transcript_exon_variant,,ENST00000425363,;FNBP4,downstream_gene_variant,,ENST00000526109,;AGBL2,upstream_gene_variant,,ENST00000526331,;AGBL2,missense_variant,p.His8Tyr,ENST00000528632,;AGBL2,upstream_gene_variant,,ENST00000532835,;							MODERATE	22/2709	H8Y	CBPC2_HUMAN			Transcript		benign(0.087)	.	ENSP00000435582		CCDS7944.1			1	
ZNF599	0	LGGM	GRCh37	19	35251153	35251153	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	81	15	.	.	ENST00000329285.8:c.553G>C	p.Gly185Arg	p.G185R	ENST00000329285	NM_001007248.2	185	Gga/Cga	0	1	1	UPI0000071186	0	NA	ENST00000329285		ENSG00000153896	26408		96	0.46		HGNC	p.G185R		ZNF599		SNV							ENST00000329285	protein_coding	getma.org/?cm=var&var=hg19,19,35251153,C,G&fts=all		hmmpanther:PTHR24381:SF20,hmmpanther:PTHR24381		G/R		G	neutral	927/3099		getma.org/?cm=msa&ty=f&p=ZN599_HUMAN&rb=50&re=197&var=G185R	tolerated(0.28)				YES	ZNF599,missense_variant,p.Gly185Arg,ENST00000329285,NM_001007248.2;ZNF599,downstream_gene_variant,,ENST00000587354,;							MODERATE	553/1767	G185R	ZN599_HUMAN			Transcript		benign(0.001)	.	ENSP00000333802		CCDS32991.1			1	
NDUFAF3	0	LGGM	GRCh37	3	49060138	49060138	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	31	17	.	.	ENST00000326925.6:c.274G>A	p.Gly92Arg	p.G92R	ENST00000326925	NM_199069.1	92	Gga/Aga	0	1	1	UPI000003427D	0	getma.org/pdb.php?prot=NDUF3_HUMAN&from=60&to=168&var=G92R	ENST00000326925		ENSG00000178057	29918		48	1.1		HGNC	p.G92R		NDUFAF3		SNV			1				ENST00000326925	protein_coding	getma.org/?cm=var&var=hg19,3,49060138,G,A&fts=all		hmmpanther:PTHR21192,Gene3D:3.40.1230.10,Pfam_domain:PF04430,Superfamily_domains:SSF64076		G/R		A	low	1408/2012		getma.org/?cm=msa&ty=f&p=NDUF3_HUMAN&rb=60&re=168&var=G92R	tolerated(0.07)	A4FU71_HUMAN			YES	NDUFAF3,missense_variant,p.Gly92Arg,ENST00000326925,NM_199069.1;NDUFAF3,missense_variant,p.Gly35Arg,ENST00000395458,NM_199073.1;NDUFAF3,missense_variant,p.Gly35Arg,ENST00000451378,NM_199070.1;NDUFAF3,missense_variant,p.Gly35Arg,ENST00000326912,NM_199074.1;DALRD3,upstream_gene_variant,,ENST00000440857,;DALRD3,upstream_gene_variant,,ENST00000313778,NM_018114.5;DALRD3,upstream_gene_variant,,ENST00000341949,NM_001009996.2;DALRD3,upstream_gene_variant,,ENST00000441576,NM_001276405.1;DALRD3,upstream_gene_variant,,ENST00000395462,;IMPDH2,downstream_gene_variant,,ENST00000326739,NM_000884.2;IMPDH2,downstream_gene_variant,,ENST00000429182,;DALRD3,upstream_gene_variant,,ENST00000420952,;IMPDH2,downstream_gene_variant,,ENST00000442157,;MIR191,upstream_gene_variant,,ENST00000384873,;MIR425,upstream_gene_variant,,ENST00000362162,;DALRD3,upstream_gene_variant,,ENST00000496568,;DALRD3,upstream_gene_variant,,ENST00000492585,;NDUFAF3,non_coding_transcript_exon_variant,,ENST00000496152,;NDUFAF3,non_coding_transcript_exon_variant,,ENST00000480392,;DALRD3,upstream_gene_variant,,ENST00000498794,;DALRD3,upstream_gene_variant,,ENST00000460505,;DALRD3,upstream_gene_variant,,ENST00000484831,;DALRD3,upstream_gene_variant,,ENST00000467457,;IMPDH2,downstream_gene_variant,,ENST00000462980,;IMPDH2,downstream_gene_variant,,ENST00000491610,;IMPDH2,downstream_gene_variant,,ENST00000481274,;IMPDH2,downstream_gene_variant,,ENST00000466147,;IMPDH2,downstream_gene_variant,,ENST00000484872,;IMPDH2,downstream_gene_variant,,ENST00000472328,;IMPDH2,downstream_gene_variant,,ENST00000463903,;							MODERATE	274/555	G92R	NDUF3_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000323076		CCDS2784.1			1	
TTC14	0	LGGM	GRCh37	3	180324136	180324136	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	39	18	.	.	ENST00000296015.4:c.1025A>G	p.Glu342Gly	p.E342G	ENST00000296015	NM_133462.3	342	gAa/gGa	0	1	1	UPI00000720AE	0	getma.org/pdb.php?prot=TTC14_HUMAN&from=305&to=372&var=E342G	ENST00000296015		ENSG00000163728	24697		57	2.265		HGNC	p.E342G		TTC14		SNV							ENST00000470669	protein_coding	getma.org/?cm=var&var=hg19,3,180324136,A,G&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23184:SF9,hmmpanther:PTHR23184,Pfam_domain:PF13414,Gene3D:1.25.40.10,SMART_domains:SM00028,Superfamily_domains:SSF48452		E/G		G	medium	1157/2881		getma.org/?cm=msa&ty=f&p=TTC14_HUMAN&rb=305&re=372&var=E342G	deleterious(0)	C9JBA2_HUMAN,C9J974_HUMAN			YES	TTC14,missense_variant,p.Glu342Gly,ENST00000412756,NM_001042601.2;TTC14,missense_variant,p.Glu342Gly,ENST00000296015,NM_133462.3;TTC14,missense_variant,p.Glu342Gly,ENST00000382584,NM_001288582.1;CCDC39,intron_variant,,ENST00000473854,;TTC14,downstream_gene_variant,,ENST00000492617,;TTC14,downstream_gene_variant,,ENST00000495660,;TTC14,downstream_gene_variant,,ENST00000491380,;CCDC39,downstream_gene_variant,,ENST00000489868,;RP11-496B10.3,upstream_gene_variant,,ENST00000472596,;TTC14,upstream_gene_variant,,ENST00000465625,;TTC14,upstream_gene_variant,,ENST00000487397,;TTC14,missense_variant,p.Glu342Gly,ENST00000470669,;TTC14,3_prime_UTR_variant,,ENST00000465065,;TTC14,downstream_gene_variant,,ENST00000462895,;							MODERATE	1025/2313	E342G	TTC14_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000296015		CCDS3237.1			1	
PDILT	0	LGGM	GRCh37	16	20387485	20387485	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	22	18	.	.	ENST00000302451.4:c.448C>T	p.Arg150Ter	p.R150*	ENST00000302451	NM_174924.1	150	Cga/Tga	0	1	1	UPI000000DAC6	0	NA	ENST00000302451		ENSG00000169340	27338		40	0		HGNC	p.R150X	rs139247719,COSM1478596	PDILT	6.07E-05	SNV	T:0.0002			0.000192		0,1	ENST00000302451	protein_coding	getma.org/?cm=var&var=hg19,16,20387485,G,A&fts=all	A:0.0015	hmmpanther:PTHR18929:SF58,hmmpanther:PTHR18929,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833		R/*	T:0	A	NA	697/2153		NA			A:0	A:0	YES	PDILT,stop_gained,p.Arg150Ter,ENST00000302451,NM_174924.1;		A:0.0004			0,1		HIGH	448/1755	R150*	PDILT_HUMAN		A:0	Transcript			.	ENSP00000305465	2.47E-05	CCDS10584.1		A:0	1	
UBQLN4	0	LGGM	GRCh37	1	156020101	156020101	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	45	18	.	.	ENST00000368309.3:c.722A>G	p.Asn241Ser	p.N241S	ENST00000368309	NM_020131.3	241	aAc/aGc	0	1	1	UPI000013E0AB	0	NA	ENST00000368309		ENSG00000160803	1237		63	1.145		HGNC	p.N241S		UBQLN4		SNV							ENST00000368309	protein_coding	getma.org/?cm=var&var=hg19,1,156020101,T,C&fts=all		hmmpanther:PTHR10677,hmmpanther:PTHR10677:SF20,SMART_domains:SM00727		N/S		C	low	815/3576		getma.org/?cm=msa&ty=f&p=UBQL4_HUMAN&rb=86&re=285&var=N241S	deleterious(0)				YES	UBQLN4,missense_variant,p.Asn241Ser,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,;							MODERATE	722/1806	N241S	UBQL4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357292		CCDS1127.1			1	
GALNT5	0	LGGM	GRCh37	2	158115728	158115728	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	30	19	.	.	ENST00000259056.4:c.1134G>C	p.Leu378=	p.L378=	ENST00000259056	NM_014568.1	378	ctG/ctC	0	1	1	UPI000019AD19	0		ENST00000259056		ENSG00000136542	4127		49			HGNC	p.L378L	rs757700678	GALNT5	0.000178	SNV							ENST00000259056	protein_coding			hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF16		L		C		1619/6171				Q68VJ5_HUMAN			YES	GALNT5,synonymous_variant,p.=,ENST00000259056,NM_014568.1;							LOW	1134/2823		GALT5_HUMAN			Transcript			.	ENSP00000259056	1.65E-05	CCDS2203.1			1	
ANKAR	0	LGGM	GRCh37	2	190541419	190541419	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	51	20	.	.	ENST00000520309.1:c.203C>A	p.Pro68Gln	p.P68Q	ENST00000520309	NM_144708.3	68	cCa/cAa	0	1		UPI00001D7E11	0	NA	ENST00000313581		ENSG00000151687	26350		71	1.845		HGNC	p.P68Q		ANKAR		SNV							ENST00000438402	protein_coding	getma.org/?cm=var&var=hg19,2,190541419,C,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62		P/Q		A	low	267/4391		getma.org/?cm=msa&ty=f&p=ANKAR_HUMAN&rb=1&re=479&var=P68Q	deleterious(0)	J3KQB7_HUMAN				ANKAR,missense_variant,p.Pro68Gln,ENST00000520309,NM_144708.3;ANKAR,missense_variant,p.Pro68Gln,ENST00000313581,;ANKAR,missense_variant,p.Pro68Gln,ENST00000438402,;ANKAR,5_prime_UTR_variant,,ENST00000431575,;ANKAR,5_prime_UTR_variant,,ENST00000281412,;ANKAR,intron_variant,,ENST00000461516,;ANKAR,5_prime_UTR_variant,,ENST00000433782,;ANKAR,intron_variant,,ENST00000441800,;ANKAR,upstream_gene_variant,,ENST00000467927,;							MODERATE	203/4305	P68Q	ANKAR_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000313513		CCDS33351.2			1	
ZCCHC4	0	LGGM	GRCh37	4	25317019	25317019	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	53	20	.	.	ENST00000302874.4:c.326A>G	p.Glu109Gly	p.E109G	ENST00000302874	NM_024936.2	109	gAa/gGa	0	1	1	UPI0000251F28	0	NA	ENST00000302874		ENSG00000168228	22917		73	1.355		HGNC	p.E109G		ZCCHC4		SNV							ENST00000507760	protein_coding	getma.org/?cm=var&var=hg19,4,25317019,A,G&fts=all		hmmpanther:PTHR13493,hmmpanther:PTHR13493:SF2		E/G		G	low	350/2785		getma.org/?cm=msa&ty=f&p=ZCHC4_HUMAN&rb=83&re=168&var=E109G	tolerated(0.23)				YES	ZCCHC4,missense_variant,p.Glu109Gly,ENST00000302874,NM_024936.2;ZCCHC4,non_coding_transcript_exon_variant,,ENST00000505451,;ZCCHC4,missense_variant,p.Glu109Gly,ENST00000507760,;							MODERATE	326/1542	E109G	ZCHC4_HUMAN			Transcript		benign(0.003)	.	ENSP00000303468		CCDS43218.1			1	
DCDC1	0	LGGM	GRCh37	11	31086567	31086567	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	27	22	.	.	ENST00000597505.1:c.2432A>T	p.Glu811Val	p.E811V	ENST00000597505		811	gAg/gTg	0	1	1	UPI0002A47319	0	NA	ENST00000597505		ENSG00000170959	20625		49	0.805		HGNC	p.E811V		DCDC1		SNV							ENST00000597505	protein_coding	getma.org/?cm=var&var=hg19,11,31086567,T,A&fts=all				E/V		A	low	2432/5352		getma.org/?cm=msa&ty=f&p=B7WPD1_HUMAN&rb=34&re=531&var=E430V	deleterious_low_confidence(0.01)	M0R2J8_HUMAN				DCDC1,missense_variant,p.Glu811Val,ENST00000597505,;DCDC1,splice_region_variant,,ENST00000437348,;DCDC1,splice_region_variant,,ENST00000342355,;							MODERATE	2432/5352	E430V				Transcript		probably_damaging(0.959)	.	ENSP00000472625					1	
BCL7A	0	LGGM	GRCh37	12	122492768	122492768	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	45	23	.	.	ENST00000538010.1:c.497A>C	p.Glu166Ala	p.E166A	ENST00000538010	NM_020993.3	166	gAg/gCg	0	1		UPI0000519436	0	NA	ENST00000261822		ENSG00000110987	1004		68	0.695		HGNC	p.E166A		BCL7A		SNV							ENST00000261822	protein_coding	getma.org/?cm=var&var=hg19,12,122492768,A,C&fts=all		hmmpanther:PTHR12767,hmmpanther:PTHR12767:SF11		E/A		C	neutral	703/2581		getma.org/?cm=msa&ty=f&p=BCL7A_HUMAN&rb=54&re=210&var=E166A	deleterious(0.05)					BCL7A,missense_variant,p.Glu166Ala,ENST00000538010,NM_020993.3;BCL7A,missense_variant,p.Glu166Ala,ENST00000261822,NM_001024808.1;							MODERATE	497/633	E166A	BCL7A_HUMAN			Transcript		benign(0.063)	.	ENSP00000261822		CCDS53841.1			1	
YY1	0	LGGM	GRCh37	14	100728716	100728716	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	35	24	.	.	ENST00000262238.4:c.755C>G	p.Ser252Ter	p.S252*	ENST00000262238	NM_003403.4	252	tCa/tGa	0	1	1	UPI00001378FC	0	NA	ENST00000262238		ENSG00000100811	12856		59	0		HGNC	p.S252X		YY1		SNV			1				ENST00000262238	protein_coding	getma.org/?cm=var&var=hg19,14,100728716,C,G&fts=all		hmmpanther:PTHR14003:SF10,hmmpanther:PTHR14003,PIRSF_domain:PIRSF037113		S/*		G	NA	1015/6697		NA		G3V3M8_HUMAN			YES	YY1,stop_gained,p.Ser252Ter,ENST00000262238,NM_003403.4;YY1,stop_gained,p.Ser81Ter,ENST00000554804,;YY1,stop_gained,p.Ser83Ter,ENST00000553625,;RP11-638I2.2,upstream_gene_variant,,ENST00000555212,;							HIGH	755/1245	S252*	TYY1_HUMAN			Transcript			.	ENSP00000262238		CCDS9957.1			1	
HOXB1	0	LGGM	GRCh37	17	46607919	46607919	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	41	24	.	.	ENST00000239174.6:c.348C>T	p.Tyr116=	p.Y116=	ENST00000239174	NM_002144.3	116	taC/taT	0	1	1	UPI0000163BFF	0		ENST00000239174		ENSG00000120094	5111		65			HGNC	p.Y116Y		HOXB1		SNV			1				ENST00000239174	protein_coding			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF167		Y		A		441/2020							YES	HOXB1,synonymous_variant,p.=,ENST00000239174,NM_002144.3;HOXB1,synonymous_variant,p.=,ENST00000577092,;							LOW	348/906		HXB1_HUMAN			Transcript			.	ENSP00000355140		CCDS32675.1			1	
AIMP1	0	LGGM	GRCh37	4	107258127	107258127	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	21	26	.	.	ENST00000394701.4:c.777A>C	p.Lys259Asn	p.K259N	ENST00000394701	NM_001142416.1	259	aaA/aaC	0	1		UPI000013E332	0	getma.org/pdb.php?prot=AIMP1_HUMAN&from=157&to=250&var=K235N	ENST00000358008		ENSG00000164022	10648		47	1.905		HGNC	p.K259N		AIMP1		SNV			1				ENST00000394701	protein_coding	getma.org/?cm=var&var=hg19,4,107258127,A,C&fts=all		PROSITE_profiles:PS50886,hmmpanther:PTHR11586:SF1,hmmpanther:PTHR11586,Pfam_domain:PF01588,Gene3D:2.40.50.140,Superfamily_domains:SSF50249		K/N		C	medium	1379/2412		getma.org/?cm=msa&ty=f&p=AIMP1_HUMAN&rb=157&re=250&var=K235N	deleterious(0)	D6R937_HUMAN				AIMP1,missense_variant,p.Lys259Asn,ENST00000394701,NM_001142416.1;AIMP1,missense_variant,p.Lys235Asn,ENST00000442366,NM_001142415.1;AIMP1,missense_variant,p.Lys235Asn,ENST00000358008,NM_004757.3;							MODERATE	705/939	K235N	AIMP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000350699		CCDS3674.1			1	
MARS2	0	LGGM	GRCh37	2	198571300	198571300	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	49	33	.	.	ENST00000282276.6:c.1171G>C	p.Val391Leu	p.V391L	ENST00000282276	NM_138395.3	391	Gtg/Ctg	0	1	1	UPI00000492CE	0	getma.org/pdb.php?prot=SYMM_HUMAN&from=45&to=411&var=V391L	ENST00000282276		ENSG00000247626	25133		82	0.33		HGNC	p.V391L		MARS2		SNV			1				ENST00000282276	protein_coding	getma.org/?cm=var&var=hg19,2,198571300,G,C&fts=all		hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF63,Pfam_domain:PF09334,Gene3D:3.40.50.620,TIGRFAM_domain:TIGR00398,Superfamily_domains:SSF52374		V/L		C	neutral	1214/3027		getma.org/?cm=msa&ty=f&p=SYMM_HUMAN&rb=45&re=411&var=V391L	tolerated(0.13)				YES	MARS2,missense_variant,p.Val391Leu,ENST00000282276,NM_138395.3;AC011997.1,intron_variant,,ENST00000409845,;							MODERATE	1171/1782	V391L	SYMM_HUMAN			Transcript		benign(0.08)	.	ENSP00000282276		CCDS33358.1			1	
CNTN5	0	LGGM	GRCh37	11	99827585	99827585	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	68	33	.	.	ENST00000524871.1:c.721G>A	p.Glu241Lys	p.E241K	ENST00000524871	NM_014361.3	241	Gaa/Aaa	0	1	1	UPI000006DAB0	0	getma.org/pdb.php?prot=CNTN5_HUMAN&from=200&to=289&var=E241K	ENST00000524871		ENSG00000149972	2175		101	1.285		HGNC	p.E241K		CNTN5		SNV							ENST00000527185	protein_coding	getma.org/?cm=var&var=hg19,11,99827585,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		E/K		A	low	1011/6258		getma.org/?cm=msa&ty=f&p=CNTN5_HUMAN&rb=200&re=289&var=E241K	deleterious(0.03)	B4DGP0_HUMAN			YES	CNTN5,missense_variant,p.Glu241Lys,ENST00000524871,NM_014361.3;CNTN5,missense_variant,p.Glu241Lys,ENST00000527185,NM_001243271.1;CNTN5,missense_variant,p.Glu241Lys,ENST00000528682,NM_001243270.1;CNTN5,missense_variant,p.Glu167Lys,ENST00000418526,NM_175566.2;CNTN5,missense_variant,p.Glu241Lys,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000525236,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;							MODERATE	721/3303	E241K	CNTN5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000435637		CCDS53696.1			1	
CENPF	0	LGGM	GRCh37	1	214819499	214819499	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	141	35	.	.	ENST00000366955.3:c.6586A>G	p.Arg2196Gly	p.R2196G	ENST00000366955	NM_016343.3	2196	Aga/Gga	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		176	0.345		HGNC	p.R2196G		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214819499,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10473,hmmpanther:PTHR18874		R/G		G	neutral	6754/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=2227&re=2366&var=R2292G					YES	CENPF,missense_variant,p.Arg2196Gly,ENST00000366955,NM_016343.3;CENPF,upstream_gene_variant,,ENST00000467765,;							MODERATE	6586/9345	R2292G	CENPF_HUMAN			Transcript		benign(0.001)	.	ENSP00000355922		CCDS31023.1			1	
NPSR1	0	LGGM	GRCh37	7	34889204	34889204	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	73	38	.	.	ENST00000359791.1:c.1025+929G>A		*342*	ENST00000359791	NM_207173.1			0	1		UPI0000159341	0	NA	ENST00000360581		ENSG00000187258	23631		111	1.61		HGNC	p.M351I		NPSR1		SNV			1				ENST00000360581	protein_coding	getma.org/?cm=var&var=hg19,7,34889204,G,A&fts=all		hmmpanther:PTHR24244,hmmpanther:PTHR24244:SF2,Superfamily_domains:SSF81321		M/I		A	low	1181/1567		getma.org/?cm=msa&ty=f&p=NPSR1_HUMAN&rb=331&re=371&var=M351I	tolerated(0.42)					NPSR1,missense_variant,p.Met351Ile,ENST00000360581,NM_207172.1;NPSR1,missense_variant,p.Met285Ile,ENST00000381542,;NPSR1,missense_variant,p.Asp385Asn,ENST00000381539,;NPSR1,intron_variant,,ENST00000359791,NM_207173.1;NPSR1,intron_variant,,ENST00000531252,;NPSR1-AS1,intron_variant,,ENST00000539747,;NPSR1-AS1,intron_variant,,ENST00000431669,;NPSR1-AS1,intron_variant,,ENST00000535640,;NPSR1,3_prime_UTR_variant,,ENST00000396095,;NPSR1,3_prime_UTR_variant,,ENST00000381544,;							MODERATE	1053/1116	M351I	NPSR1_HUMAN			Transcript		benign(0.02)	.	ENSP00000353788		CCDS5444.1			1	
RNF180	0	LGGM	GRCh37	5	63509537	63509537	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	71	41	.	.	ENST00000389100.4:c.384C>A	p.Gly128=	p.G128=	ENST00000389100	NM_001113561.1	128	ggC/ggA	0	1	1	UPI0000141201	0		ENST00000389100		ENSG00000164197	27752		112			HGNC	p.G128G		RNF180		SNV							ENST00000296615	protein_coding			hmmpanther:PTHR13982,hmmpanther:PTHR13982:SF5		G		A		456/4906				D6RE88_HUMAN			YES	RNF180,synonymous_variant,p.=,ENST00000389100,NM_001113561.1;RNF180,synonymous_variant,p.=,ENST00000296615,NM_178532.3;RNF180,intron_variant,,ENST00000381081,;RNF180,downstream_gene_variant,,ENST00000504296,;							LOW	384/1779		RN180_HUMAN			Transcript			.	ENSP00000373752		CCDS47219.1			1	
EPHA6	0	LGGM	GRCh37	3	97439128	97439128	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112345	H112345N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	93	42	.	.	ENST00000389672.5:c.2808G>A	p.Trp936Ter	p.W936*	ENST00000389672	NM_001080448.2	936	tgG/tgA	0	1	1	UPI000004BB12	0	NA	ENST00000389672		ENSG00000080224	19296		135	0		HGNC	p.W936X		EPHA6		SNV							ENST00000389672	protein_coding	getma.org/?cm=var&var=hg19,3,97439128,G,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,Prints_domain:PR00109,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF24,SMART_domains:SM00219,Superfamily_domains:SSF56112		W/*		A	NA	2846/3971		NA		H0Y8K5_HUMAN			YES	EPHA6,stop_gained,p.Trp936Ter,ENST00000389672,NM_001080448.2;EPHA6,stop_gained,p.Trp260Ter,ENST00000477384,;							HIGH	2808/3393	W841*				Transcript			.	ENSP00000374323		CCDS46876.1			1	
OR2M7	0	LGGM	GRCh37	1	248487309	248487309	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112345	H112345N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	169	43	.	.	ENST00000317965.2:c.562T>A	p.Ser188Thr	p.S188T	ENST00000317965	NM_001004691.1	188	Tca/Aca	0	1	1	UPI000004B236	0	NA	ENST00000317965		ENSG00000177186	19594		212	2.67		HGNC	p.S188T		OR2M7		SNV							ENST00000317965	protein_coding	getma.org/?cm=var&var=hg19,1,248487309,A,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF233,hmmpanther:PTHR26453,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		S/T		T	medium	591/1006		getma.org/?cm=msa&ty=f&p=OR2M7_HUMAN&rb=139&re=283&var=S188T	deleterious(0.02)				YES	OR2M7,missense_variant,p.Ser188Thr,ENST00000317965,NM_001004691.1;							MODERATE	562/939	S188T	OR2M7_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000324557		CCDS31111.1			1	
ABCA13	0	LGGM	GRCh37	7	48349680	48349680	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112345	H112345N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	104	43	.	.	ENST00000435803.1:c.9458T>C	p.Val3153Ala	p.V3153A	ENST00000435803	NM_152701.3	3153	gTg/gCg	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		147	0.625		HGNC	p.V3153A	rs764254671	ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48349680,T,C&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		V/A		C	neutral	9482/17184	1.50E-05	getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3001&re=3200&var=V3153A					YES	ABCA13,missense_variant,p.Val3153Ala,ENST00000435803,NM_152701.3;ABCA13,upstream_gene_variant,,ENST00000484268,;							MODERATE	9458/15177	V3153A	ABCAD_HUMAN			Transcript		benign(0.105)	.	ENSP00000411096	8.27E-06	CCDS47584.1			1	
TATDN1	0	LGGM	GRCh37	8	125535185	125535185	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112345	H112345N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112345N.bam, H112345T.bam	Illumina HiSeq	37	44	.	.	ENST00000276692.6:c.81G>A	p.Lys27=	p.K27=	ENST00000276692	NM_032026.3	27	aaG/aaA	0	1	1	UPI000006F5CF	0		ENST00000276692		ENSG00000147687	24220		81			HGNC	p.K27K	rs770607373	TATDN1		SNV							ENST00000522810	protein_coding			hmmpanther:PTHR10060,hmmpanther:PTHR10060:SF15,Pfam_domain:PF01026,Gene3D:3.20.20.140,PIRSF_domain:PIRSF005902,Superfamily_domains:SSF51556		K		T		119/1018	1.50E-05			E5RK70_HUMAN			YES	TATDN1,synonymous_variant,p.=,ENST00000276692,NM_032026.3;TATDN1,synonymous_variant,p.=,ENST00000522810,;TATDN1,synonymous_variant,p.=,ENST00000517678,;TATDN1,synonymous_variant,p.=,ENST00000605953,;TATDN1,synonymous_variant,p.=,ENST00000519232,;TATDN1,5_prime_UTR_variant,,ENST00000523888,;TATDN1,intron_variant,,ENST00000519548,NM_001146160.1;TATDN1,intron_variant,,ENST00000523152,;TATDN1,non_coding_transcript_exon_variant,,ENST00000521546,;TATDN1,non_coding_transcript_exon_variant,,ENST00000518133,;TATDN1,upstream_gene_variant,,ENST00000521973,;TATDN1,synonymous_variant,p.=,ENST00000523214,;TATDN1,synonymous_variant,p.=,ENST00000520938,;TATDN1,synonymous_variant,p.=,ENST00000519776,;TATDN1,synonymous_variant,p.=,ENST00000522310,;TATDN1,non_coding_transcript_exon_variant,,ENST00000522280,;TATDN1,intron_variant,,ENST00000522927,;TATDN1,intron_variant,,ENST00000520321,;							LOW	81/894		TATD1_HUMAN			Transcript			.	ENSP00000276692	8.24E-06	CCDS6351.1			1	
EWSR1	0	LGGM	GRCh37	22	29695732	29695732	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	2	2	.	.	ENST00000414183.2:c.1837G>A	p.Gly613Ser	p.G613S	ENST00000414183		613	Ggt/Agt	0	1		UPI000012A2B1	0	NA	ENST00000397938		ENSG00000182944	3508		4	2.05		HGNC	p.G608S	rs745897992	EWSR1		SNV			1				ENST00000397938	protein_coding	getma.org/?cm=var&var=hg19,22,29695732,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23238:SF3,hmmpanther:PTHR23238		G/S		A	medium	2141/2654	1.64E-05	getma.org/?cm=msa&ty=f&p=EWS_HUMAN&rb=550&re=656&var=G608S	tolerated_low_confidence(0.17)					EWSR1,missense_variant,p.Gly608Ser,ENST00000397938,NM_001163286.1,NM_005243.3,NM_001163285.1,NM_013986.3;EWSR1,missense_variant,p.Gly535Ser,ENST00000332050,;EWSR1,missense_variant,p.Gly570Ser,ENST00000331029,;EWSR1,missense_variant,p.Gly607Ser,ENST00000406548,;EWSR1,missense_variant,p.Gly613Ser,ENST00000414183,;EWSR1,missense_variant,p.Gly552Ser,ENST00000332035,;EWSR1,missense_variant,p.Gly260Ser,ENST00000360091,;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,;EWSR1,non_coding_transcript_exon_variant,,ENST00000469669,;EWSR1,non_coding_transcript_exon_variant,,ENST00000490315,;EWSR1,non_coding_transcript_exon_variant,,ENST00000483629,;							MODERATE	1822/1971	G608S	EWS_HUMAN			Transcript		unknown(0)	.	ENSP00000381031	8.24E-06	CCDS13851.1			1	
SFI1	0	LGGM	GRCh37	22	31946324	31946324	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	2	.	.	ENST00000400288.2:c.534C>G	p.Ala178=	p.A178=	ENST00000400288	NM_001007467.2	178	gcC/gcG	0	1	1	UPI00004703B1	0		ENST00000400288		ENSG00000198089	29064		14			HGNC	p.A178A		SFI1		SNV							ENST00000432498	protein_coding			hmmpanther:PTHR22028,hmmpanther:PTHR22028:SF2		A		G		639/4002							YES	SFI1,synonymous_variant,p.=,ENST00000432498,NM_014775.3;SFI1,synonymous_variant,p.=,ENST00000540643,NM_001258325.1;SFI1,synonymous_variant,p.=,ENST00000443326,NM_001258326.1,NM_001258327.1;SFI1,synonymous_variant,p.=,ENST00000400288,NM_001007467.2;SFI1,synonymous_variant,p.=,ENST00000400289,;SFI1,synonymous_variant,p.=,ENST00000450787,;SFI1,intron_variant,,ENST00000414585,;SFI1,intron_variant,,ENST00000443011,;SFI1,synonymous_variant,p.=,ENST00000524296,;SFI1,non_coding_transcript_exon_variant,,ENST00000382162,;SFI1,non_coding_transcript_exon_variant,,ENST00000486708,;							LOW	534/3729		SFI1_HUMAN			Transcript			.	ENSP00000383145		CCDS43004.1			1	
CCDC17	0	LGGM	GRCh37	1	46089498	46089498	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	7	2	.	.	ENST00000528266.1:c.84C>G	p.Thr28=	p.T28=	ENST00000528266		28	acC/acG	0	1	1	UPI0001AE78A9	0		ENST00000528266		ENSG00000159588	26574		9			HGNC	p.T28T		CCDC17		SNV							ENST00000528266	protein_coding					T		C		232/2181							YES	CCDC17,synonymous_variant,p.=,ENST00000421127,NM_001190182.1,NM_001114938.2;CCDC17,synonymous_variant,p.=,ENST00000528266,;CCDC17,synonymous_variant,p.=,ENST00000343901,;CCDC17,synonymous_variant,p.=,ENST00000445048,;GPBP1L1,downstream_gene_variant,,ENST00000355105,NM_021639.4;GPBP1L1,downstream_gene_variant,,ENST00000290795,;NASP,downstream_gene_variant,,ENST00000350030,NM_002482.3;GPBP1L1,downstream_gene_variant,,ENST00000479235,;GPBP1L1,downstream_gene_variant,,ENST00000467032,;GPBP1L1,downstream_gene_variant,,ENST00000487436,;CCDC17,upstream_gene_variant,,ENST00000464739,;CCDC17,synonymous_variant,p.=,ENST00000479529,;CCDC17,synonymous_variant,p.=,ENST00000372044,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;CCDC17,non_coding_transcript_exon_variant,,ENST00000525599,;							LOW	84/1869		CCD17_HUMAN			Transcript			.	ENSP00000432172		CCDS44131.2			1	
SHROOM2	0	LGGM	GRCh37	X	9905349	9905349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	2	2	.	.	ENST00000380913.3:c.3763C>A	p.Gln1255Lys	p.Q1255K	ENST00000380913	NM_001649.2	1255	Cag/Aag	0	1	1	UPI0000125D05	0	NA	ENST00000380913		ENSG00000146950	630		4	1.895		HGNC	p.Q90K		SHROOM2		SNV							ENST00000452575	protein_coding	getma.org/?cm=var&var=hg19,X,9905349,C,A&fts=all		hmmpanther:PTHR15012,hmmpanther:PTHR15012:SF8		Q/K		A	low	3853/7447		getma.org/?cm=msa&ty=f&p=SHRM2_HUMAN&rb=1207&re=1316&var=Q1255K	deleterious(0.01)	F5H3B6_HUMAN,C9IZC6_HUMAN			YES	SHROOM2,missense_variant,p.Gln1255Lys,ENST00000380913,NM_001649.2;SHROOM2,missense_variant,p.Gln90Lys,ENST00000418909,;SHROOM2,missense_variant,p.Gln90Lys,ENST00000452575,;SHROOM2,downstream_gene_variant,,ENST00000493668,;							MODERATE	3763/4851	Q1255K	SHRM2_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000370299		CCDS14135.1			1	
NUP93	0	LGGM	GRCh37	16	56782314	56782314	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	11	2	.	.	ENST00000308159.5:c.155C>G	p.Ser52Cys	p.S52C	ENST00000308159	NM_014669.4	52	tCc/tGc	0	1	1	UPI0000044E0C	0	NA	ENST00000308159		ENSG00000102900	28958		13	1.445		HGNC	p.S52C		NUP93		SNV							ENST00000568656	protein_coding	getma.org/?cm=var&var=hg19,16,56782314,C,G&fts=all		hmmpanther:PTHR11225,Low_complexity_(Seg):seg		S/C		G	low	276/2741		getma.org/?cm=msa&ty=f&p=NUP93_HUMAN&rb=1&re=200&var=S52C	deleterious(0.02)	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN			YES	NUP93,missense_variant,p.Ser52Cys,ENST00000569842,;NUP93,missense_variant,p.Ser52Cys,ENST00000308159,NM_014669.4;NUP93,missense_variant,p.Ser52Cys,ENST00000568656,;NUP93,missense_variant,p.Ser52Cys,ENST00000566315,;NUP93,missense_variant,p.Ser52Cys,ENST00000562496,;NUP93,missense_variant,p.Ser19Cys,ENST00000566678,;NUP93,intron_variant,,ENST00000563858,;NUP93,intron_variant,,ENST00000569863,;							MODERATE	155/2460	S52C	NUP93_HUMAN			Transcript		possibly_damaging(0.711)	.	ENSP00000310668		CCDS10769.1			1	
UBXN11	0	LGGM	GRCh37	1	26608890	26608891	+	frameshift_variant	Frame_Shift_Del	DEL	CC	CC	-	novel	by Submitter	H112352	H112352N.bam	CC	CC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	4	2	.	.	ENST00000374222.1:c.1462_1463delGG	p.Gly488SerfsTer?	p.G488Sfs*?	ENST00000374222		488	GGt/t	0	1		UPI00004700E1	0		ENST00000374221		ENSG00000158062	30600	0.000746	6			HGNC	p.455_455del	rs376181141	UBXN11	0.000253	deletion				0.00947			ENST00000374217	protein_coding			Low_complexity_(Seg):seg		G/X		-		1676-1677/1792	0.00112							UBXN11,frameshift_variant,p.Gly368SerfsTer167,ENST00000314675,NM_001077262.1;UBXN11,frameshift_variant,p.Gly488SerfsTer?,ENST00000374222,;UBXN11,frameshift_variant,p.Gly455SerfsTer?,ENST00000374217,NM_145345.2;UBXN11,frameshift_variant,p.Gly488SerfsTer?,ENST00000374221,NM_183008.2;UBXN11,frameshift_variant,p.Gly455SerfsTer?,ENST00000357089,;UBXN11,frameshift_variant,p.Gly245SerfsTer?,ENST00000374223,;CEP85,downstream_gene_variant,,ENST00000252992,NM_022778.3;CEP85,downstream_gene_variant,,ENST00000453146,;CEP85,downstream_gene_variant,,ENST00000451429,NM_001281517.1;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.3;UBXN11,downstream_gene_variant,,ENST00000436301,;UBXN11,downstream_gene_variant,,ENST00000374215,;UBXN11,downstream_gene_variant,,ENST00000535108,;UBXN11,downstream_gene_variant,,ENST00000452980,;SH3BGRL3,downstream_gene_variant,,ENST00000319041,;UBXN11,downstream_gene_variant,,ENST00000442942,;CEP85,downstream_gene_variant,,ENST00000469609,;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,;CEP85,downstream_gene_variant,,ENST00000476272,;	0.00131						HIGH	1462-1463/1563		UBX11_HUMAN			Transcript			common_variant	ENSP00000363338	0.00115	CCDS41288.1			1	
KLHDC8A	0	LGGM	GRCh37	1	205308479	205308479	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	3	.	.	ENST00000367156.3:c.600C>T	p.Arg200=	p.R200=	ENST00000367156	NM_001271863.1	200	cgC/cgT	0	1		UPI00000728EF	0		ENST00000367155		ENSG00000162873	25573		31			HGNC	p.R200R	rs371629132	KLHDC8A		SNV	A:0						ENST00000367155	protein_coding			Superfamily_domains:0047741,Gene3D:1zgkA00,Pfam_domain:PF13964,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF123,SMART_domains:SM00612		R	A:0.0001	A		1168/2928	0.000182			U3KQK4_HUMAN,U3KQI4_HUMAN,U3KQH1_HUMAN,U3KQC2_HUMAN,U3KPX9_HUMAN,U3KPW1_HUMAN				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.=,ENST00000537168,;KLHDC8A,synonymous_variant,p.=,ENST00000460687,;KLHDC8A,synonymous_variant,p.=,ENST00000606181,;KLHDC8A,downstream_gene_variant,,ENST00000491471,;KLHDC8A,downstream_gene_variant,,ENST00000606887,;KLHDC8A,downstream_gene_variant,,ENST00000607173,;KLHDC8A,downstream_gene_variant,,ENST00000607826,;KLHDC8A,downstream_gene_variant,,ENST00000606529,;KLHDC8A,downstream_gene_variant,,ENST00000606111,;							LOW	600/1053		KLD8A_HUMAN			Transcript			.	ENSP00000356123	9.88E-05	CCDS30985.1			1	
ADAM29	0	LGGM	GRCh37	4	175897194	175897194	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	20	3	.	.	ENST00000359240.3:c.518G>T	p.Cys173Phe	p.C173F	ENST00000359240	NM_014269.4	173	tGc/tTc	0	1	1	UPI000013E9DE	0	NA	ENST00000359240		ENSG00000168594	207		23	1.1		HGNC	p.C173F		ADAM29		SNV							ENST00000514159	protein_coding	getma.org/?cm=var&var=hg19,4,175897194,G,T&fts=all		hmmpanther:PTHR11905,hmmpanther:PTHR11905:SF34		C/F		T	low	1188/3325		getma.org/?cm=msa&ty=f&p=ADA29_HUMAN&rb=151&re=197&var=C173F	tolerated(0.7)	D6RHU0_HUMAN,D6RBU0_HUMAN			YES	ADAM29,missense_variant,p.Cys173Phe,ENST00000359240,NM_014269.4,NM_001278126.1,NM_001278125.1;ADAM29,missense_variant,p.Cys173Phe,ENST00000445694,NM_001130703.1,NM_001278127.1;ADAM29,missense_variant,p.Cys173Phe,ENST00000404450,NM_001130704.1;ADAM29,missense_variant,p.Cys173Phe,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,;							MODERATE	518/2463	C173F	ADA29_HUMAN			Transcript		benign(0.001)	.	ENSP00000352177		CCDS3823.1			1	
HIC2	0	LGGM	GRCh37	22	21799665	21799665	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	8	3	.	.	ENST00000443632.2:c.481C>A	p.Arg161Ser	p.R161S	ENST00000443632		161	Cgc/Agc	0	1		UPI000012C71C	0	NA	ENST00000407464		ENSG00000169635	18595		11	2.125		HGNC	p.R161S		HIC2		SNV							ENST00000407464	protein_coding	getma.org/?cm=var&var=hg19,22,21799665,C,A&fts=all		hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF321		R/S		A	medium	711/6798		getma.org/?cm=msa&ty=f&p=HIC2_HUMAN&rb=152&re=315&var=R161S	deleterious(0.03)					HIC2,missense_variant,p.Arg161Ser,ENST00000443632,;HIC2,missense_variant,p.Arg161Ser,ENST00000407464,NM_015094.2;HIC2,missense_variant,p.Arg161Ser,ENST00000407598,;							MODERATE	481/1848	R161S	HIC2_HUMAN			Transcript		benign(0.353)	.	ENSP00000385319		CCDS13789.1			1	
KTN1	0	LGGM	GRCh37	14	56107684	56107684	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	38	3	.	.	ENST00000395314.3:c.2017C>G	p.Gln673Glu	p.Q673E	ENST00000395314	NM_001079521.1	673	Caa/Gaa	0	1	1	UPI0000190F88	0	NA	ENST00000395314		ENSG00000126777	6467		41	0		HGNC	p.Q673E		KTN1		SNV							ENST00000395308	protein_coding	getma.org/?cm=var&var=hg19,14,56107684,C,G&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18864		Q/E		G	neutral	2085/4618		getma.org/?cm=msa&ty=f&p=KTN1_HUMAN&rb=29&re=1019&var=Q673E	tolerated(0.06)	Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,missense_variant,p.Gln673Glu,ENST00000416613,;KTN1,missense_variant,p.Gln673Glu,ENST00000395314,NM_001079521.1;KTN1,missense_variant,p.Gln673Glu,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,missense_variant,p.Gln673Glu,ENST00000395311,;KTN1,missense_variant,p.Gln673Glu,ENST00000438792,NM_004986.3;KTN1,missense_variant,p.Gln673Glu,ENST00000395309,;KTN1,missense_variant,p.Gln673Glu,ENST00000395308,;KTN1,upstream_gene_variant,,ENST00000554507,;KTN1,downstream_gene_variant,,ENST00000554567,;KTN1,upstream_gene_variant,,ENST00000554890,;KTN1,missense_variant,p.Gln673Glu,ENST00000459737,;KTN1,upstream_gene_variant,,ENST00000553360,;							MODERATE	2017/4074	Q673E	KTN1_HUMAN			Transcript		benign(0.002)	.	ENSP00000378725		CCDS41957.1			1	
CD33	0	LGGM	GRCh37	19	51729275	51729275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	33	3	.	.	ENST00000262262.4:c.635G>T	p.Cys212Phe	p.C212F	ENST00000262262	NM_001772.3	212	tGt/tTt	0	1	1	UPI000013D285	0	getma.org/pdb.php?prot=CD33_HUMAN&from=156&to=214&var=C212F	ENST00000262262		ENSG00000105383	1659		36	3.235		HGNC	p.C85F		CD33		SNV							ENST00000436584	protein_coding	getma.org/?cm=var&var=hg19,19,51729275,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00047,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF52,SMART_domains:SM00409,Superfamily_domains:SSF48726		C/F		T	medium	656/1444		getma.org/?cm=msa&ty=f&p=CD33_HUMAN&rb=156&re=214&var=C212F	deleterious(0)	Q546G0_HUMAN			YES	CD33,missense_variant,p.Cys85Phe,ENST00000436584,;CD33,missense_variant,p.Cys212Phe,ENST00000262262,NM_001772.3;CD33,missense_variant,p.Cys212Phe,ENST00000391796,NM_001177608.1;CD33,missense_variant,p.Cys85Phe,ENST00000421133,NM_001082618.1;CD33,non_coding_transcript_exon_variant,,ENST00000598473,;CD33,non_coding_transcript_exon_variant,,ENST00000601785,;							MODERATE	635/1095	C212F	CD33_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262262		CCDS33084.1			1	
GALNT6	0	LGGM	GRCh37	12	51753104	51753104	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	47	3	.	.	ENST00000543196.2:c.1180G>T	p.Gly394Trp	p.G394W	ENST00000543196		394	Ggg/Tgg	0	1		UPI000013D726	0	getma.org/pdb.php?prot=GALT6_HUMAN&from=371&to=496&var=G394W	ENST00000356317		ENSG00000139629	4128		50	4.315		HGNC	p.G394W		GALNT6		SNV							ENST00000543196	protein_coding	getma.org/?cm=var&var=hg19,12,51753104,C,A&fts=all		hmmpanther:PTHR11675:SF35,hmmpanther:PTHR11675,Gene3D:3.90.550.10,Superfamily_domains:SSF53448		G/W		A	high	1494/2809		getma.org/?cm=msa&ty=f&p=GALT6_HUMAN&rb=371&re=496&var=G394W	deleterious(0)	S4R3M3_HUMAN,S4R3L4_HUMAN,S4R3A9_HUMAN,S4R396_HUMAN,S4R370_HUMAN,S4R355_HUMAN,S4R345_HUMAN,S4R310_HUMAN,B3KRZ8_HUMAN				GALNT6,missense_variant,p.Gly394Trp,ENST00000543196,;GALNT6,missense_variant,p.Gly394Trp,ENST00000356317,NM_007210.3;GALNT6,synonymous_variant,p.=,ENST00000603641,;GALNT6,non_coding_transcript_exon_variant,,ENST00000603680,;							MODERATE	1180/1869	G394W	GALT6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000348668		CCDS8813.1			1	
EFTUD1	0	LGGM	GRCh37	15	82512074	82512074	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	20	3	.	.	ENST00000268206.7:c.1530G>T	p.Arg510=	p.R510=	ENST00000268206	NM_024580.5	510	cgG/cgT	0	1	1	UPI00001FEA35	0		ENST00000268206		ENSG00000140598	25789		23			HGNC	p.R510R		EFTUD1		SNV							ENST00000268206	protein_coding			Superfamily_domains:SSF50447,Gene3D:2.40.30.10,Pfam_domain:PF03144,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF3		R		A		1699/3675				H0YNW8_HUMAN			YES	EFTUD1,synonymous_variant,p.=,ENST00000268206,NM_024580.5;EFTUD1,synonymous_variant,p.=,ENST00000359445,NM_001040610.2;EFTUD1,upstream_gene_variant,,ENST00000560095,;							LOW	1530/3363		ETUD1_HUMAN			Transcript			.	ENSP00000268206		CCDS42071.1			1	
FMNL1	0	LGGM	GRCh37	17	43323728	43323728	+	intron_variant	Intron	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	34	3	.	.	ENST00000331495.3:c.3211+31C>G		*1071*	ENST00000331495	NM_005892.3			0	1	1	UPI0000246EE9	0		ENST00000331495		ENSG00000184922	1212		37			HGNC	p.P411R		FMNL1		SNV							ENST00000586643	protein_coding							G		-/4101							YES	FMNL1,missense_variant,p.Pro411Arg,ENST00000586643,;FMNL1,missense_variant,p.Pro114Arg,ENST00000586092,;FMNL1,3_prime_UTR_variant,,ENST00000589911,;FMNL1,intron_variant,,ENST00000331495,NM_005892.3;FMNL1,intron_variant,,ENST00000328118,;FMNL1,intron_variant,,ENST00000587489,;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,;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,;							MODIFIER	-/3303		FMNL_HUMAN			Transcript			.	ENSP00000329219		CCDS11497.1			1	
ITGA1	0	LGGM	GRCh37	5	52206189	52206189	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	34	3	.	.	ENST00000282588.6:c.1797C>T	p.His599=	p.H599=	ENST00000282588	NM_181501.1	599	caC/caT	0	1	1	UPI00001A95E8	0		ENST00000282588		ENSG00000213949	6134		37			HGNC	p.H599H	rs774961834	ITGA1		SNV							ENST00000282588	protein_coding			PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF22,Pfam_domain:PF01839,Gene3D:3nigC00,SMART_domains:SM00191,Superfamily_domains:SSF69318		H		T		2255/10757	1.50E-05						YES	ITGA1,synonymous_variant,p.=,ENST00000282588,NM_181501.1;ITGA1,non_coding_transcript_exon_variant,,ENST00000504669,;	0.000116						LOW	1797/3540		ITA1_HUMAN			Transcript			.	ENSP00000282588	1.65E-05	CCDS3955.1			1	
OR9Q2	0	LGGM	GRCh37	11	57958326	57958326	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	47	3	.	.	ENST00000311591.3:c.364C>A	p.Arg122Ser	p.R122S	ENST00000311591	NM_001005283.2	122	Cgc/Agc	0	1	1	UPI0000061ECB	0	getma.org/pdb.php?prot=OR9Q2_HUMAN&from=1&to=140&var=R122S	ENST00000311591		ENSG00000186513	15328		50	3.775		HGNC	p.R122S		OR9Q2		SNV							ENST00000311591	protein_coding	getma.org/?cm=var&var=hg19,11,57958326,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF155,Superfamily_domains:SSF81321		R/S		A	high	421/1085		getma.org/?cm=msa&ty=f&p=OR9Q2_HUMAN&rb=1&re=140&var=R122S	deleterious(0)				YES	OR9Q2,missense_variant,p.Arg122Ser,ENST00000311591,NM_001005283.2;							MODERATE	364/945	R122S	OR9Q2_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000308714		CCDS31544.1			1	
MPV17	0	LGGM	GRCh37	2	27540027	27540027	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	1	3	.	.	ENST00000380044.1:c.71-4051A>C		*24*	ENST00000380044	NM_002437.4			0	1		UPI000012F4BD	0		ENST00000233545		ENSG00000115204	7224		4			HGNC	p.K49Q		MPV17		SNV			1				ENST00000415514	protein_coding							G		-/998				Q9UPC7_HUMAN,D6W556_HUMAN,C9J473_HUMAN				MPV17,missense_variant,p.Lys49Gln,ENST00000399052,;MPV17,5_prime_UTR_variant,,ENST00000428910,;MPV17,intron_variant,,ENST00000357186,;MPV17,intron_variant,,ENST00000380044,NM_002437.4;MPV17,intron_variant,,ENST00000233545,;MPV17,intron_variant,,ENST00000402310,;MPV17,intron_variant,,ENST00000405983,;MPV17,intron_variant,,ENST00000402722,;MPV17,intron_variant,,ENST00000403262,;MPV17,intron_variant,,ENST00000405076,;MPV17,upstream_gene_variant,,ENST00000435114,;MPV17,upstream_gene_variant,,ENST00000430991,;MPV17,missense_variant,p.Lys49Gln,ENST00000415514,;MPV17,non_coding_transcript_exon_variant,,ENST00000492879,;MPV17,non_coding_transcript_exon_variant,,ENST00000486898,;MPV17,intron_variant,,ENST00000495429,;MPV17,intron_variant,,ENST00000426513,;MPV17,intron_variant,,ENST00000489478,;MPV17,intron_variant,,ENST00000497981,;MPV17,downstream_gene_variant,,ENST00000494436,;MPV17,upstream_gene_variant,,ENST00000481575,;MPV17,upstream_gene_variant,,ENST00000475085,;							MODIFIER	-/531		MPV17_HUMAN			Transcript			.	ENSP00000233545		CCDS1748.1			1	
CC2D1A	0	LGGM	GRCh37	19	14034150	14034150	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	37	3	.	.	ENST00000318003.7:c.1646C>A	p.Pro549Gln	p.P549Q	ENST00000318003	NM_017721.4	549	cCg/cAg	0	1	1	UPI0000203524	0	NA	ENST00000318003		ENSG00000132024	30237		40	2.825		HGNC	p.P549Q		CC2D1A		SNV			1				ENST00000589606	protein_coding	getma.org/?cm=var&var=hg19,19,14034150,C,A&fts=all		hmmpanther:PTHR13076,hmmpanther:PTHR13076:SF7,SMART_domains:SM00685		P/Q		A	medium	1887/3581		getma.org/?cm=msa&ty=f&p=C2D1A_HUMAN&rb=401&re=600&var=P549Q	deleterious(0)				YES	CC2D1A,missense_variant,p.Pro549Gln,ENST00000318003,NM_017721.4;CC2D1A,missense_variant,p.Pro549Gln,ENST00000589606,;CC2D1A,missense_variant,p.Pro4Gln,ENST00000587508,;CC2D1A,synonymous_variant,p.=,ENST00000586955,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589138,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000588932,;CC2D1A,non_coding_transcript_exon_variant,,ENST00000589679,;CC2D1A,downstream_gene_variant,,ENST00000585896,;CC2D1A,upstream_gene_variant,,ENST00000589224,;							MODERATE	1646/2856	P549Q	C2D1A_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000313601		CCDS42512.1			1	
CTSE	0	LGGM	GRCh37	1	206320222	206320222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	33	3	.	.	ENST00000358184.2:c.365C>A	p.Pro122His	p.P122H	ENST00000358184	NM_001910.3	122	cCt/cAt	0	1	1	UPI000000D9E4	0	getma.org/pdb.php?prot=CATE_HUMAN&from=77&to=399&var=P122H	ENST00000358184		ENSG00000196188	2530		36	1.375		HGNC	p.P47H		CTSE		SNV							ENST00000432969	protein_coding	getma.org/?cm=var&var=hg19,1,206320222,C,A&fts=all		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF81,Pfam_domain:PF00026,Gene3D:2.40.70.10,Superfamily_domains:SSF50630		P/H		A	low	483/2228		getma.org/?cm=msa&ty=f&p=CATE_HUMAN&rb=77&re=399&var=P122H	tolerated(0.07)				YES	CTSE,missense_variant,p.Pro122His,ENST00000361052,;CTSE,missense_variant,p.Pro122His,ENST00000358184,NM_001910.3;CTSE,missense_variant,p.Pro122His,ENST00000360218,NM_148964.2;CTSE,missense_variant,p.Pro47His,ENST00000432969,;CTSE,non_coding_transcript_exon_variant,,ENST00000468617,;							MODERATE	365/1191	P122H	CATE_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000350911		CCDS1462.1			1	
SLIT1	0	LGGM	GRCh37	10	98807520	98807520	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	3	.	.	ENST00000266058.4:c.1561G>T	p.Ala521Ser	p.A521S	ENST00000266058	NM_003061.2	521	Gcc/Tcc	0	1	1	UPI00001F9491	0	NA	ENST00000266058		ENSG00000187122	11085		22	-0.265		HGNC	p.A521S		SLIT1		SNV							ENST00000266058	protein_coding	getma.org/?cm=var&var=hg19,10,98807520,C,A&fts=all		hmmpanther:PTHR24373:SF39,hmmpanther:PTHR24373,Pfam_domain:PF01462,SMART_domains:SM00013,Superfamily_domains:SSF52058		A/S		A	neutral	1807/7925		getma.org/?cm=msa&ty=f&p=SLIT1_HUMAN&rb=492&re=559&var=A521S	tolerated(0.14)				YES	SLIT1,missense_variant,p.Ala521Ser,ENST00000266058,NM_003061.2;SLIT1,missense_variant,p.Ala521Ser,ENST00000371070,;SLIT1,missense_variant,p.Ala514Ser,ENST00000314867,;ARHGAP19-SLIT1,3_prime_UTR_variant,,ENST00000453547,;							MODERATE	1561/4605	A521S	SLIT1_HUMAN			Transcript		benign(0.004)	.	ENSP00000266058		CCDS7453.1			1	
KCNH4	0	LGGM	GRCh37	17	40330894	40330894	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	3	.	.	ENST00000264661.3:c.227G>T	p.Ser76Ile	p.S76I	ENST00000264661	NM_012285.2	76	aGt/aTt	0	1	1	UPI000012DCA8	0	getma.org/pdb.php?prot=KCNH4_HUMAN&from=26&to=135&var=S76I	ENST00000264661		ENSG00000089558	6253		29	3.265		HGNC	p.S76I		KCNH4		SNV							ENST00000264661	protein_coding	getma.org/?cm=var&var=hg19,17,40330894,C,A&fts=all		PROSITE_profiles:PS50112,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF378,Gene3D:3.30.450.20,Pfam_domain:PF13426,TIGRFAM_domain:TIGR00229,Superfamily_domains:SSF55785		S/I		A	medium	560/3920		getma.org/?cm=msa&ty=f&p=KCNH4_HUMAN&rb=26&re=135&var=S76I	deleterious(0)				YES	KCNH4,missense_variant,p.Ser76Ile,ENST00000264661,NM_012285.2;KCNH4,missense_variant,p.Ser76Ile,ENST00000607371,;							MODERATE	227/3054	S76I	KCNH4_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000264661		CCDS11420.1			1	
ZNRF3	0	LGGM	GRCh37	22	29442751	29442751	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000544604.2:c.792C>A	p.Thr264=	p.T264=	ENST00000544604	NM_001206998.1	264	acC/acA	0	1	1	UPI0000EE5944	0		ENST00000544604		ENSG00000183579	18126		48			HGNC	p.T164T		ZNRF3		SNV							ENST00000406323	protein_coding			hmmpanther:PTHR16200:SF3,hmmpanther:PTHR16200		T		A		967/6851							YES	ZNRF3,synonymous_variant,p.=,ENST00000544604,NM_001206998.1;ZNRF3,synonymous_variant,p.=,ENST00000332811,;ZNRF3,synonymous_variant,p.=,ENST00000406323,;ZNRF3,synonymous_variant,p.=,ENST00000402174,NM_032173.3;							LOW	792/2811		ZNRF3_HUMAN			Transcript			.	ENSP00000443824		CCDS56225.1			1	
PFDN2	0	LGGM	GRCh37	1	161071856	161071856	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	39	3	.	.	ENST00000368010.3:c.270G>T	p.Leu90Phe	p.L90F	ENST00000368010	NM_012394.3	90	ttG/ttT	0	1	1	UPI000000DBA5	0	NA	ENST00000368010		ENSG00000143256	8867		42	3.445		HGNC	p.L90F		PFDN2		SNV							ENST00000368010	protein_coding	getma.org/?cm=var&var=hg19,1,161071856,C,A&fts=all		Gene3D:1.10.287.370,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF01920,hmmpanther:PTHR13303,Superfamily_domains:SSF46579		L/F		A	medium	355/677		getma.org/?cm=msa&ty=f&p=PFD2_HUMAN&rb=24&re=129&var=L90F	deleterious(0)	B1AQP2_HUMAN			YES	PFDN2,missense_variant,p.Leu90Phe,ENST00000368010,NM_012394.3;KLHDC9,downstream_gene_variant,,ENST00000392192,NM_001007255.2;KLHDC9,downstream_gene_variant,,ENST00000368011,NM_152366.4;PFDN2,intron_variant,,ENST00000468311,;KLHDC9,downstream_gene_variant,,ENST00000490724,;KLHDC9,downstream_gene_variant,,ENST00000469647,;KLHDC9,downstream_gene_variant,,ENST00000392191,;KLHDC9,downstream_gene_variant,,ENST00000494418,;KLHDC9,downstream_gene_variant,,ENST00000471613,;KLHDC9,downstream_gene_variant,,ENST00000475934,;							MODERATE	270/465	L90F	PFD2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356989		CCDS1217.1			1	
MMP19	0	LGGM	GRCh37	12	56231763	56231763	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000322569.4:c.924G>T	p.Lys308Asn	p.K308N	ENST00000322569	NM_002429.5	308	aaG/aaT	0	1	1	UPI0000030AE6	0	NA	ENST00000322569		ENSG00000123342	7165		48	2.98		HGNC	p.G262W		MMP19		SNV							ENST00000409200	protein_coding	getma.org/?cm=var&var=hg19,12,56231763,C,A&fts=all		Gene3D:2.110.10.10,PIRSF_domain:PIRSF001191,PROSITE_profiles:PS51642,hmmpanther:PTHR10201,hmmpanther:PTHR10201:SF117,SMART_domains:SM00120,Superfamily_domains:SSF50923		K/N		A	medium	1016/2229		getma.org/?cm=msa&ty=f&p=MMP19_HUMAN&rb=293&re=335&var=K308N	deleterious(0.02)				YES	MMP19,missense_variant,p.Lys22Asn,ENST00000394182,;MMP19,missense_variant,p.Lys308Asn,ENST00000322569,NM_002429.5;MMP19,missense_variant,p.Lys285Asn,ENST00000548629,;MMP19,missense_variant,p.Gly262Trp,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,;							MODERATE	924/1527	K308N	MMP19_HUMAN			Transcript		possibly_damaging(0.535)	.	ENSP00000313437		CCDS8895.1			1	
CCR3	0	LGGM	GRCh37	3	46307288	46307288	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	38	3	.	.	ENST00000545097.1:c.702C>A	p.Leu234=	p.L234=	ENST00000545097	NM_001164680.1	234	ctC/ctA	0	1		UPI0000033A70	0		ENST00000357422		ENSG00000183625	1604		41			HGNC	p.L213L		CCR3		SNV							ENST00000357422	protein_coding			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		L		A		1182/2000				Q96T97_HUMAN,Q96T96_HUMAN,Q8TDP8_HUMAN,Q8TDP5_HUMAN,Q8TDP4_HUMAN				CCR3,synonymous_variant,p.=,ENST00000357422,;CCR3,synonymous_variant,p.=,ENST00000541018,NM_001837.3;CCR3,synonymous_variant,p.=,ENST00000545097,NM_001164680.1,NM_178328.1;CCR3,synonymous_variant,p.=,ENST00000395940,NM_178329.2;CCR3,synonymous_variant,p.=,ENST00000395942,;CCR3,downstream_gene_variant,,ENST00000452454,;CCR3,downstream_gene_variant,,ENST00000457243,;CCR3,downstream_gene_variant,,ENST00000475150,;CCR3,downstream_gene_variant,,ENST00000484025,;							LOW	639/1068		CCR3_HUMAN			Transcript			.	ENSP00000350003		CCDS2738.1			1	
EYA4	0	LGGM	GRCh37	6	133789885	133789885	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	36	3	.	.	ENST00000367895.5:c.970+16C>A		*324*	ENST00000367895	NM_004100.4			0	1	1	UPI000013D649	0		ENST00000367895		ENSG00000112319	3522		39			HGNC	p.P329Q		EYA4		SNV			1				ENST00000531901	protein_coding							A		-/5699							YES	EYA4,missense_variant,p.Pro329Gln,ENST00000531901,;EYA4,missense_variant,p.Pro275Gln,ENST00000430974,;EYA4,intron_variant,,ENST00000367895,NM_004100.4;EYA4,intron_variant,,ENST00000355167,NM_172105.3;EYA4,intron_variant,,ENST00000355286,NM_172103.3;EYA4,intron_variant,,ENST00000525849,;EYA4,intron_variant,,ENST00000452339,;EYA4,intron_variant,,ENST00000431403,;EYA4,splice_region_variant,,ENST00000532518,;EYA4,intron_variant,,ENST00000531861,;EYA4,downstream_gene_variant,,ENST00000421413,;							MODIFIER	-/1920		EYA4_HUMAN			Transcript			.	ENSP00000356870		CCDS5165.1			1	
SLFN13	0	LGGM	GRCh37	17	33772636	33772636	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000285013.6:c.64G>T	p.Gly22Ter	p.G22*	ENST00000285013	NM_144682.5	22	Gga/Tga	0	1	1	UPI000004E65A	0	NA	ENST00000285013		ENSG00000154760	26481		48	0		HGNC	p.G22X	rs556356780	SLFN13		SNV							ENST00000526861	protein_coding	getma.org/?cm=var&var=hg19,17,33772636,C,A&fts=all	T:0	hmmpanther:PTHR12155:SF21,hmmpanther:PTHR12155		G/*		A	NA	340/8469		NA		K7EPV8_HUMAN,E9PM29_HUMAN,E9PKT7_HUMAN,B3KV92_HUMAN	T:0	T:0	YES	SLFN13,stop_gained,p.Gly22Ter,ENST00000285013,NM_144682.5;SLFN13,stop_gained,p.Gly22Ter,ENST00000526861,;SLFN13,stop_gained,p.Gly22Ter,ENST00000542635,;SLFN13,stop_gained,p.Gly22Ter,ENST00000533791,;SLFN13,stop_gained,p.Gly22Ter,ENST00000524511,;SLFN13,stop_gained,p.Gly22Ter,ENST00000531588,;SLFN13,intron_variant,,ENST00000360502,;SLFN13,intron_variant,,ENST00000534689,;SLFN13,intron_variant,,ENST00000532210,;SLFN13,stop_gained,p.Gly22Ter,ENST00000530782,;SLFN13,upstream_gene_variant,,ENST00000532774,;SLFN13,downstream_gene_variant,,ENST00000526483,;	0.000347	T:0.0002					HIGH	64/2694	G22*	SLN13_HUMAN		T:0	Transcript			.	ENSP00000285013	2.47E-05	CCDS32620.1		T:0.001	1	
XPC	0	LGGM	GRCh37	3	14190071	14190071	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	3	.	.	ENST00000285021.7:c.2411C>A	p.Ser804Tyr	p.S804Y	ENST00000285021	NM_004628.4	804	tCc/tAc	0	1	1	UPI000196375E	0	getma.org/pdb.php?prot=XPC_HUMAN&from=751&to=825&var=S804Y	ENST00000285021		ENSG00000154767	12816		19	2.44		HGNC	p.S767Y		XPC		SNV			1				ENST00000449060	protein_coding	getma.org/?cm=var&var=hg19,3,14190071,G,T&fts=all		hmmpanther:PTHR12135,hmmpanther:PTHR12135:SF0,Pfam_domain:PF10405,TIGRFAM_domain:TIGR00605,SMART_domains:SM01032		S/Y		T	medium	2626/3832		getma.org/?cm=msa&ty=f&p=XPC_HUMAN&rb=751&re=825&var=S804Y	deleterious(0)	D2CPK4_HUMAN,D2CPK2_HUMAN,D2CPK1_HUMAN,D2CPJ8_HUMAN,D2CPJ3_HUMAN,D2CPJ1_HUMAN,D2CPI9_HUMAN			YES	XPC,missense_variant,p.Ser804Tyr,ENST00000285021,NM_004628.4,NM_001145769.1;XPC,missense_variant,p.Ser767Tyr,ENST00000449060,;TMEM43,downstream_gene_variant,,ENST00000306077,NM_024334.2;AC093495.4,downstream_gene_variant,,ENST00000428681,;AC093495.4,downstream_gene_variant,,ENST00000420253,;RP11-434D12.1,downstream_gene_variant,,ENST00000601399,;XPC,3_prime_UTR_variant,,ENST00000476581,;XPC,non_coding_transcript_exon_variant,,ENST00000427795,;RP11-434D12.1,downstream_gene_variant,,ENST00000608606,;							MODERATE	2411/2823	S804Y	XPC_HUMAN			Transcript		probably_damaging(0.964)	.	ENSP00000285021		CCDS46763.1			1	
ZNF346	0	LGGM	GRCh37	5	176477935	176477935	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	3	.	.	ENST00000358149.3:c.701C>A	p.Pro234Gln	p.P234Q	ENST00000358149	NM_012279.2	234	cCa/cAa	0	1	1	UPI00000704A0	0	getma.org/pdb.php?prot=ZN346_HUMAN&from=210&to=238&var=P234Q	ENST00000358149		ENSG00000113761	16403		25	1.76		HGNC	p.P136Q		ZNF346		SNV							ENST00000506693	protein_coding	getma.org/?cm=var&var=hg19,5,176477935,C,A&fts=all		hmmpanther:PTHR23067,hmmpanther:PTHR23067:SF7		P/Q		A	low	744/2314		getma.org/?cm=msa&ty=f&p=ZN346_HUMAN&rb=180&re=268&var=P234Q	tolerated(0.62)				YES	ZNF346,missense_variant,p.Pro259Gln,ENST00000503039,;ZNF346,missense_variant,p.Pro259Gln,ENST00000261948,;ZNF346,missense_variant,p.Pro234Gln,ENST00000358149,NM_012279.2;ZNF346,missense_variant,p.Pro250Gln,ENST00000511834,;ZNF346,missense_variant,p.Pro136Gln,ENST00000506693,;ZNF346,missense_variant,p.Pro202Gln,ENST00000503425,;ZNF346,intron_variant,,ENST00000512315,;ZNF346-IT1,upstream_gene_variant,,ENST00000515264,;ZNF346,splice_region_variant,,ENST00000508155,;ZNF346,intron_variant,,ENST00000513587,;ZNF346,downstream_gene_variant,,ENST00000504600,;							MODERATE	701/885	P234Q	ZN346_HUMAN			Transcript		benign(0.187)	.	ENSP00000350869		CCDS4409.1			1	
KIAA0355	0	LGGM	GRCh37	19	34791850	34791850	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	3	.	.	ENST00000299505.6:c.472G>T	p.Glu158Ter	p.E158*	ENST00000299505	NM_014686.3	158	Gaa/Taa	0	1	1	UPI000013E5AD	0	NA	ENST00000299505		ENSG00000166398	29016		18	0		HGNC	p.E158X		KIAA0355		SNV							ENST00000299505	protein_coding	getma.org/?cm=var&var=hg19,19,34791850,G,T&fts=all		hmmpanther:PTHR15703,hmmpanther:PTHR15703:SF2		E/*		T	NA	1345/6717		NA		U3KPV0_HUMAN,K7EPA0_HUMAN			YES	KIAA0355,stop_gained,p.Glu158Ter,ENST00000299505,NM_014686.3;KIAA0355,stop_gained,p.Glu34Ter,ENST00000588470,;KIAA0355,intron_variant,,ENST00000588338,;KIAA0355,downstream_gene_variant,,ENST00000589583,;KIAA0355,downstream_gene_variant,,ENST00000592124,;KIAA0355,downstream_gene_variant,,ENST00000585833,;RPL29P33,upstream_gene_variant,,ENST00000431093,;RPL29P33,upstream_gene_variant,,ENST00000587474,;							HIGH	472/3213	E158*	K0355_HUMAN			Transcript			.	ENSP00000299505		CCDS12436.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144859800	144859800	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	34	3	.	.	ENST00000369356.4:c.6284C>A	p.Pro2095Gln	p.P2095Q	ENST00000369356	NM_014644.5	2095	cCa/cAa	0	1		UPI0000251FAA	0	NA	ENST00000369354		ENSG00000178104	15580		37	1.645		HGNC	p.P2180Q		PDE4DIP		SNV							ENST00000530740	protein_coding	getma.org/?cm=var&var=hg19,1,144859800,G,T&fts=all		hmmpanther:PTHR13895,hmmpanther:PTHR13895:SF2		P/Q		T	low	6474/8262		getma.org/?cm=msa&ty=f&p=MYOME_HUMAN&rb=2031&re=2345&var=P2095Q		I1VE15_HUMAN				PDE4DIP,missense_variant,p.Pro2231Gln,ENST00000369359,;PDE4DIP,missense_variant,p.Pro2095Gln,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,missense_variant,p.Pro2180Gln,ENST00000530740,;PDE4DIP,missense_variant,p.Pro2095Gln,ENST00000369354,;PDE4DIP,missense_variant,p.Pro1989Gln,ENST00000313382,NM_001198832.2;PDE4DIP,intron_variant,,ENST00000530130,;RP4-791M13.4,intron_variant,,ENST00000532137,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000526664,;PDE4DIP,upstream_gene_variant,,ENST00000525630,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000534466,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,downstream_gene_variant,,ENST00000479369,;PDE4DIP,downstream_gene_variant,,ENST00000481227,;PDE4DIP,upstream_gene_variant,,ENST00000533768,;PDE4DIP,upstream_gene_variant,,ENST00000534367,;PDE4DIP,downstream_gene_variant,,ENST00000527901,;PDE4DIP,downstream_gene_variant,,ENST00000525886,;							MODERATE	6284/7041	P2095Q	MYOME_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000358360		CCDS30824.1			1	
GLG1	0	LGGM	GRCh37	16	74496052	74496052	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	3	.	.	ENST00000205061.5:c.2976C>T	p.Ile992=	p.I992=	ENST00000205061	NM_012201.5	992	atC/atT	0	1		UPI000013C652	0		ENST00000422840		ENSG00000090863	4316		13			HGNC	p.I992I		GLG1		SNV							ENST00000422840	protein_coding			Pfam_domain:PF00839,PROSITE_profiles:PS51289,hmmpanther:PTHR11884,hmmpanther:PTHR11884:SF1		I		A		2976/4748				Q6ZMF1_HUMAN,H3BQT1_HUMAN				GLG1,synonymous_variant,p.=,ENST00000422840,NM_001145667.1;GLG1,synonymous_variant,p.=,ENST00000205061,NM_012201.5;GLG1,synonymous_variant,p.=,ENST00000447066,NM_001145666.1;Y_RNA,downstream_gene_variant,,ENST00000384794,;GLG1,3_prime_UTR_variant,,ENST00000562090,;GLG1,3_prime_UTR_variant,,ENST00000567951,;GLG1,non_coding_transcript_exon_variant,,ENST00000561481,;GLG1,non_coding_transcript_exon_variant,,ENST00000563646,;GLG1,upstream_gene_variant,,ENST00000561942,;							LOW	2976/3540		GSLG1_HUMAN			Transcript			.	ENSP00000405984		CCDS45527.1			1	
NSG1	0	LGGM	GRCh37	4	4411401	4411401	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	24	3	.	.	ENST00000421177.2:c.348C>A	p.Phe116Leu	p.F116L	ENST00000421177		116	ttC/ttA	0	1		UPI0000130549	0	NA	ENST00000433139		ENSG00000168824			27	2.25		Uniprot_gn	p.F116L		NSG1		SNV							ENST00000506380	protein_coding	getma.org/?cm=var&var=hg19,4,4411401,C,A&fts=all		Pfam_domain:PF06387,PIRSF_domain:PIRSF002383		F/L		A	medium	480/2254		getma.org/?cm=msa&ty=f&p=NSG1_HUMAN&rb=1&re=185&var=F116L	deleterious(0)	D3DVS7_HUMAN,B2R5R8_HUMAN				NSG1,missense_variant,p.Phe116Leu,ENST00000421177,;NSG1,missense_variant,p.Phe116Leu,ENST00000513555,NM_001287763.1;NSG1,missense_variant,p.Phe116Leu,ENST00000397958,NM_001040101.1,NM_014392.3;NSG1,missense_variant,p.Phe116Leu,ENST00000433139,;NSG1,missense_variant,p.Phe77Leu,ENST00000504171,;NSG1,missense_variant,p.Phe116Leu,ENST00000505246,;NSG1,missense_variant,p.Phe116Leu,ENST00000506380,;NSG1,missense_variant,p.Phe116Leu,ENST00000513829,;							MODERATE	348/558	F116L	NSG1_HUMAN			Transcript		benign(0.253)	.	ENSP00000408833		CCDS3376.1			1	
OBFC1	0	LGGM	GRCh37	10	105658751	105658751	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	25	3	.	.	ENST00000224950.3:c.465G>T	p.Val155=	p.V155=	ENST00000224950	NM_024928.4	155	gtG/gtT	0	1	1	UPI000013C85A	0		ENST00000224950		ENSG00000107960	26200		28			HGNC	p.V155V		OBFC1		SNV			1				ENST00000224950	protein_coding			hmmpanther:PTHR13989:SF11,hmmpanther:PTHR13989,Gene3D:2.40.50.140,PIRSF_domain:PIRSF036950,Superfamily_domains:SSF50249		V		A		633/1417							YES	OBFC1,synonymous_variant,p.=,ENST00000224950,NM_024928.4;OBFC1,synonymous_variant,p.=,ENST00000369764,;OBFC1,non_coding_transcript_exon_variant,,ENST00000466828,;OBFC1,non_coding_transcript_exon_variant,,ENST00000472951,;							LOW	465/1107		STN1_HUMAN			Transcript			.	ENSP00000224950		CCDS7552.1			1	
SERPINA3	0	LGGM	GRCh37	14	95081060	95081060	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	46	3	.	.	ENST00000467132.1:c.282C>A	p.Thr94=	p.T94=	ENST00000467132		94	acC/acA	0	1		UPI000012509B	0		ENST00000393080		ENSG00000196136	16		49			HGNC	p.T94T		SERPINA3		SNV			1				ENST00000467132	protein_coding			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF145,SMART_domains:SM00093,Superfamily_domains:SSF56574		T		A		350/1581				G3V5I3_HUMAN,G3V3A0_HUMAN				SERPINA3,synonymous_variant,p.=,ENST00000467132,;SERPINA3,synonymous_variant,p.=,ENST00000393078,NM_001085.4;SERPINA3,synonymous_variant,p.=,ENST00000393080,;SERPINA3,upstream_gene_variant,,ENST00000482740,;SERPINA3,intron_variant,,ENST00000556388,;SERPINA3,downstream_gene_variant,,ENST00000485588,;SERPINA3,synonymous_variant,p.=,ENST00000556968,;RP11-986E7.7,3_prime_UTR_variant,,ENST00000553947,;SERPINA3,3_prime_UTR_variant,,ENST00000555820,;							LOW	282/1272		AACT_HUMAN			Transcript			.	ENSP00000376795		CCDS32150.1			1	
THBS1	0	LGGM	GRCh37	15	39874556	39874556	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	3	.	.	ENST00000260356.5:c.230A>G	p.Asp77Gly	p.D77G	ENST00000260356	NM_003246.2	77	gAc/gGc	0	1	1	UPI00001FE219	0	getma.org/pdb.php?prot=TSP1_HUMAN&from=24&to=221&var=D77G	ENST00000260356		ENSG00000137801	11785		16	2.005		HGNC	p.D77G	rs774667192	THBS1		SNV							ENST00000260356	protein_coding	getma.org/?cm=var&var=hg19,15,39874556,A,G&fts=all		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF78,SMART_domains:SM00210,Superfamily_domains:SSF49899		D/G		G	medium	395/7775	1.50E-05	getma.org/?cm=msa&ty=f&p=TSP1_HUMAN&rb=24&re=221&var=D77G	tolerated_low_confidence(0.2)	Q7KYY3_HUMAN,A8MZG1_HUMAN,A0PJG0_HUMAN			YES	THBS1,missense_variant,p.Asp77Gly,ENST00000260356,NM_003246.2;THBS1,missense_variant,p.Asp77Gly,ENST00000397591,;THBS1,upstream_gene_variant,,ENST00000478845,;							MODERATE	230/3513	D77G	TSP1_HUMAN			Transcript		benign(0.076)	.	ENSP00000260356	8.24E-06	CCDS32194.1			1	
AK4	0	LGGM	GRCh37	1	65684563	65684563	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	3	.	.	ENST00000395334.2:c.392C>A	p.Pro131His	p.P131H	ENST00000395334	NM_001005353.2	131	cCt/cAt	0	1		UPI000011E13C	0	getma.org/pdb.php?prot=KAD4_HUMAN&from=126&to=161&var=P131H	ENST00000327299		ENSG00000162433	363		29	3.46		HGNC	p.P131H		AK4		SNV							ENST00000395334	protein_coding	getma.org/?cm=var&var=hg19,1,65684563,C,A&fts=all		Gene3D:3.40.50.300,HAMAP:MF_00235,HAMAP:MF_03169,HAMAP:MF_03170,Pfam_domain:PF00406,Pfam_domain:PF05191,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF58,Superfamily_domains:SSF57774,TIGRFAM_domain:TIGR01351		P/H		A	medium	597/6836		getma.org/?cm=msa&ty=f&p=KAD4_HUMAN&rb=126&re=161&var=P131H	deleterious(0.02)	D3DQ64_HUMAN				AK4,missense_variant,p.Pro131His,ENST00000395334,NM_001005353.2;AK4,missense_variant,p.Pro131His,ENST00000545314,NM_203464.2;AK4,missense_variant,p.Pro131His,ENST00000327299,NM_013410.3;AK4,missense_variant,p.Pro79His,ENST00000546702,;AK4,non_coding_transcript_exon_variant,,ENST00000470888,;AK4,non_coding_transcript_exon_variant,,ENST00000474968,;AK4,non_coding_transcript_exon_variant,,ENST00000479060,;AK4,non_coding_transcript_exon_variant,,ENST00000497030,;							MODERATE	392/672	P131H	KAD4_HUMAN			Transcript		possibly_damaging(0.764)	.	ENSP00000322175		CCDS629.1			1	
ECI1	0	LGGM	GRCh37	16	2293066	2293066	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	7	3	.	.	ENST00000301729.4:c.723C>A	p.Ala241=	p.A241=	ENST00000301729	NM_001919.3	241	gcC/gcA	0	1	1	UPI0000128DAE	0		ENST00000301729		ENSG00000167969	2703		10			HGNC	p.A182A		ECI1		SNV							ENST00000570258	protein_coding			hmmpanther:PTHR11941:SF55,hmmpanther:PTHR11941,Pfam_domain:PF00378,Gene3D:3.90.226.10,Superfamily_domains:SSF52096		A		T		771/1541				Q96DC0_HUMAN,H3BS70_HUMAN			YES	ECI1,synonymous_variant,p.=,ENST00000301729,NM_001919.3;ECI1,synonymous_variant,p.=,ENST00000570258,;ECI1,synonymous_variant,p.=,ENST00000566379,;ECI1,synonymous_variant,p.=,ENST00000562238,NM_001178029.1;DNASE1L2,downstream_gene_variant,,ENST00000564065,;DNASE1L2,downstream_gene_variant,,ENST00000320700,NM_001374.2;DNASE1L2,downstream_gene_variant,,ENST00000567494,;DNASE1L2,downstream_gene_variant,,ENST00000382437,;RP11-304L19.11,downstream_gene_variant,,ENST00000565709,;ECI1,non_coding_transcript_exon_variant,,ENST00000563447,;ECI1,downstream_gene_variant,,ENST00000563029,;ECI1,downstream_gene_variant,,ENST00000561688,;							LOW	723/909		ECI1_HUMAN			Transcript			.	ENSP00000301729		CCDS10464.1			1	
STEAP4	0	LGGM	GRCh37	7	87908843	87908843	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	3	.	.	ENST00000380079.4:c.1250C>A	p.Pro417His	p.P417H	ENST00000380079	NM_024636.3	417	cCt/cAt	0	1	1	UPI000003C39A	0	NA	ENST00000380079		ENSG00000127954	21923		21	2.705		HGNC	p.P417H		STEAP4		SNV							ENST00000380079	protein_coding	getma.org/?cm=var&var=hg19,7,87908843,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5		P/H		T	medium	1352/4451		getma.org/?cm=msa&ty=f&p=STEA4_HUMAN&rb=396&re=459&var=P417H	deleterious(0)				YES	STEAP4,missense_variant,p.Pro417His,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,missense_variant,p.Pro241His,ENST00000301959,NM_001205316.1;STEAP4,downstream_gene_variant,,ENST00000414498,;AC003991.3,intron_variant,,ENST00000600908,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000434733,;AC003991.3,downstream_gene_variant,,ENST00000594469,;							MODERATE	1250/1380	P417H	STEA4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000369419		CCDS43611.1			1	
PON3	0	LGGM	GRCh37	7	94989327	94989327	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	3	.	.	ENST00000265627.5:c.1023C>A	p.Leu341=	p.L341=	ENST00000265627	NM_000940.2	341	ctC/ctA	0	1	1	UPI00000743F1	0		ENST00000265627		ENSG00000105852	9206		35			HGNC	p.L341L		PON3		SNV			1				ENST00000265627	protein_coding			hmmpanther:PTHR11799,hmmpanther:PTHR11799:SF6,Gene3D:2.120.10.30,Superfamily_domains:SSF63829,Prints_domain:PR01785		L		T		1034/1105							YES	PON3,synonymous_variant,p.=,ENST00000265627,NM_000940.2;PON3,3_prime_UTR_variant,,ENST00000451904,;PON3,3_prime_UTR_variant,,ENST00000427422,;PON1,intron_variant,,ENST00000542556,;PON3,3_prime_UTR_variant,,ENST00000442770,;PON3,3_prime_UTR_variant,,ENST00000456855,;PON3,3_prime_UTR_variant,,ENST00000418617,;PON3,non_coding_transcript_exon_variant,,ENST00000492800,;PON3,non_coding_transcript_exon_variant,,ENST00000460248,;PON3,downstream_gene_variant,,ENST00000482624,;							LOW	1023/1065		PON3_HUMAN			Transcript			.	ENSP00000265627		CCDS5639.1			1	
NACA	0	LGGM	GRCh37	12	57114274	57114274	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	25	3	.	.	ENST00000550952.1:c.1040G>T	p.Gly347Val	p.G347V	ENST00000550952		347	gGg/gTg	0	1		UPI0000073EC7	0	NA	ENST00000356769		ENSG00000196531	7629		28	0		HGNC	p.G347V		NACA		SNV							ENST00000550952	protein_coding	getma.org/?cm=var&var=hg19,12,57114274,C,A&fts=all						A	neutral	-/2690		getma.org/?cm=msa&ty=f&p=E9PAV3_HUMAN&rb=1&re=669&var=G347V		F8W1N5_HUMAN,F8W0W4_HUMAN,F8VZJ2_HUMAN,F8VZ58_HUMAN,B2R4P8_HUMAN				NACA,missense_variant,p.Gly347Val,ENST00000454682,NM_001113203.2;NACA,missense_variant,p.Gly347Val,ENST00000550952,;NACA,intron_variant,,ENST00000356769,NM_001113202.1;NACA,intron_variant,,ENST00000552540,;NACA,intron_variant,,ENST00000393891,;NACA,intron_variant,,ENST00000548563,;NACA,intron_variant,,ENST00000546392,;NACA,intron_variant,,ENST00000549855,;NACA,intron_variant,,ENST00000549259,;NACA,intron_variant,,ENST00000552055,;NACA,intron_variant,,ENST00000546862,;NACA,upstream_gene_variant,,ENST00000550920,;NACA,downstream_gene_variant,,ENST00000546917,;NACA,intron_variant,,ENST00000551793,;NACA,intron_variant,,ENST00000551775,;NACA,intron_variant,,ENST00000551520,;NACA,intron_variant,,ENST00000547914,;NACA,intron_variant,,ENST00000548084,;							MODIFIER	-/648	G347V	NACA_HUMAN			Transcript			.	ENSP00000349212		CCDS31837.1			1	
PTCHD1	0	LGGM	GRCh37	X	23410929	23410929	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	37	3	.	.	ENST00000379361.4:c.1294G>T	p.Glu432Ter	p.E432*	ENST00000379361	NM_173495.2	432	Gaa/Taa	0	1	1	UPI000059DAD8	0	NA	ENST00000379361		ENSG00000165186	26392		40	0		HGNC	p.E432X		PTCHD1		SNV			1				ENST00000379361	protein_coding	getma.org/?cm=var&var=hg19,X,23410929,G,T&fts=all		Pfam_domain:PF02460,hmmpanther:PTHR10796,hmmpanther:PTHR10796:SF36		E/*		T	NA	2154/13714		NA					YES	PTCHD1,stop_gained,p.Glu432Ter,ENST00000379361,NM_173495.2;PTCHD1,3_prime_UTR_variant,,ENST00000456522,;							HIGH	1294/2667	E432*	PTHD1_HUMAN			Transcript			.	ENSP00000368666		CCDS35215.2			1	
CCAR2	0	LGGM	GRCh37	8	22470606	22470606	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	21	3	.	.	ENST00000308511.4:c.661C>A	p.Leu221Met	p.L221M	ENST00000308511		221	Ctg/Atg	0	1	1	UPI0000070A46	0	NA	ENST00000308511		ENSG00000158941	23360		24	0.55		HGNC	p.L39M		CCAR2		SNV							ENST00000522599	protein_coding	getma.org/?cm=var&var=hg19,8,22470606,C,A&fts=all		hmmpanther:PTHR14304,hmmpanther:PTHR14304:SF12		L/M		A	neutral	910/4853		getma.org/?cm=msa&ty=f&p=K1967_HUMAN&rb=113&re=312&var=L221M	tolerated(0.18)	E5RGU7_HUMAN,E5RFJ3_HUMAN,E2PSM9_HUMAN			YES	CCAR2,missense_variant,p.Leu221Met,ENST00000308511,;CCAR2,missense_variant,p.Leu221Met,ENST00000389279,NM_021174.5;CCAR2,missense_variant,p.Leu39Met,ENST00000522599,;CCAR2,5_prime_UTR_variant,,ENST00000520861,;CCAR2,upstream_gene_variant,,ENST00000520738,;RP11-582J16.5,downstream_gene_variant,,ENST00000521025,;CCAR2,upstream_gene_variant,,ENST00000521436,;CCAR2,upstream_gene_variant,,ENST00000521020,;							MODERATE	661/2772	L221M	CCAR2_HUMAN			Transcript		benign(0.024)	.	ENSP00000310670		CCDS34863.1			1	
RAI1	0	LGGM	GRCh37	17	17698505	17698505	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	17	3	.	.	ENST00000353383.1:c.2243A>G	p.Glu748Gly	p.E748G	ENST00000353383	NM_030665.3	748	gAg/gGg	0	1	1	UPI0000200AAF	0	NA	ENST00000353383		ENSG00000108557	9834		20	1.87		HGNC	p.E748G		RAI1		SNV			1				ENST00000353383	protein_coding	getma.org/?cm=var&var=hg19,17,17698505,A,G&fts=all		hmmpanther:PTHR14955,hmmpanther:PTHR14955:SF6		E/G		G	low	2712/7662		getma.org/?cm=msa&ty=f&p=RAI1_HUMAN&rb=1&re=1189&var=E748G	deleterious(0)	J3QLL5_HUMAN,A8MXE8_HUMAN			YES	RAI1,missense_variant,p.Glu748Gly,ENST00000353383,NM_030665.3;RAI1,missense_variant,p.Glu748Gly,ENST00000261641,;RAI1,missense_variant,p.Glu748Gly,ENST00000395774,;RAI1,downstream_gene_variant,,ENST00000471135,;RAI1,upstream_gene_variant,,ENST00000583166,;							MODERATE	2243/5721	E748G	RAI1_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000323074		CCDS11188.1			1	
NRIP1	0	LGGM	GRCh37	21	16340065	16340065	+	stop_gained	Nonsense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	3	.	.	ENST00000400202.1:c.449C>G	p.Ser150Ter	p.S150*	ENST00000400202		150	tCa/tGa	0	1		UPI000004A0A8	0	NA	ENST00000318948		ENSG00000180530	8001		30	0		HGNC	p.S150X		NRIP1		SNV							ENST00000400199	protein_coding	getma.org/?cm=var&var=hg19,21,16340065,G,C&fts=all		hmmpanther:PTHR15088		S/*		C	NA	1047/7556		NA		N0GWB6_HUMAN,N0GW17_HUMAN,C9J130_HUMAN				NRIP1,stop_gained,p.Ser150Ter,ENST00000400202,;NRIP1,stop_gained,p.Ser150Ter,ENST00000400199,;NRIP1,stop_gained,p.Ser150Ter,ENST00000318948,NM_003489.3;NRIP1,downstream_gene_variant,,ENST00000411932,;AF127577.11,upstream_gene_variant,,ENST00000436429,;AF127577.10,downstream_gene_variant,,ENST00000446301,;							HIGH	449/3477	S150*	NRIP1_HUMAN			Transcript			.	ENSP00000327213		CCDS13568.1			1	
KNCN	0	LGGM	GRCh37	1	47016800	47016800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	47	3	.	.	ENST00000396314.3:c.88G>T	p.Gly30Cys	p.G30C	ENST00000396314	NM_001097611.1	30	Ggc/Tgc	0	1		UPI000155D48B	0		ENST00000481882		ENSG00000162456	26488		50			HGNC	p.G30C		KNCN		SNV							ENST00000481882	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF15033		G/C		A		400/1037			deleterious_low_confidence(0.01)					KNCN,missense_variant,p.Gly30Cys,ENST00000481882,;KNCN,missense_variant,p.Gly30Cys,ENST00000396314,NM_001097611.1;MKNK1-AS1,intron_variant,,ENST00000602433,;KNCN,upstream_gene_variant,,ENST00000524908,;KNCN,upstream_gene_variant,,ENST00000294445,;							MODERATE	88/375		KNCN_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000419705					1	
EIF6	0	LGGM	GRCh37	20	33868539	33868539	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	6	3	.	.	ENST00000374450.3:c.287G>T	p.Arg96Leu	p.R96L	ENST00000374450	NM_002212.3	96	cGg/cTg	0	1		UPI0000001224	0	getma.org/pdb.php?prot=IF6_HUMAN&from=3&to=204&var=R96L	ENST00000374436		ENSG00000242372	6159		9	3.915		HGNC	p.G136W		EIF6		SNV							ENST00000415116	protein_coding	getma.org/?cm=var&var=hg19,20,33868539,C,A&fts=all		Superfamily_domains:SSF55909,PIRSF_domain:PIRSF006413,SMART_domains:SM00654,TIGRFAM_domain:TIGR00323,Gene3D:3.75.10.10,Pfam_domain:PF01912,hmmpanther:PTHR10784,hmmpanther:PTHR10784:SF0,HAMAP:MF_00032		R/L		A	high	515/1252		getma.org/?cm=msa&ty=f&p=IF6_HUMAN&rb=3&re=204&var=R96L	deleterious(0.02)	B7ZBH1_HUMAN				EIF6,missense_variant,p.Arg96Leu,ENST00000374450,NM_002212.3;EIF6,missense_variant,p.Arg96Leu,ENST00000374436,NM_181468.2,NM_001267810.1;EIF6,missense_variant,p.Arg96Leu,ENST00000456600,;EIF6,intron_variant,,ENST00000374443,NM_181466.2;MMP24,downstream_gene_variant,,ENST00000246186,NM_006690.3;FAM83C,downstream_gene_variant,,ENST00000374408,NM_178468.5;EDEM2,upstream_gene_variant,,ENST00000540582,;MMP24-AS1,upstream_gene_variant,,ENST00000435366,;MMP24-AS1,upstream_gene_variant,,ENST00000566203,;MMP24-AS1,upstream_gene_variant,,ENST00000424358,;MMP24-AS1,upstream_gene_variant,,ENST00000456790,;MMP24-AS1,upstream_gene_variant,,ENST00000438751,;MMP24-AS1,upstream_gene_variant,,ENST00000456350,;MMP24-AS1,upstream_gene_variant,,ENST00000433764,;MMP24-AS1,upstream_gene_variant,,ENST00000454184,;RP4-614O4.11,upstream_gene_variant,,ENST00000444717,;MMP24-AS1,upstream_gene_variant,,ENST00000455178,;FAM83C-AS1,upstream_gene_variant,,ENST00000429167,;EIF6,intron_variant,,ENST00000462894,;EIF6,missense_variant,p.Gly136Trp,ENST00000415116,;EIF6,intron_variant,,ENST00000447927,;EIF6,intron_variant,,ENST00000440766,;							MODERATE	287/738	R96L	IF6_HUMAN			Transcript		benign(0.225)	.	ENSP00000363559		CCDS13249.1			1	
C3orf67	0	LGGM	GRCh37	3	58849392	58849392	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	3	.	.	ENST00000295966.7:c.1110G>T	p.Met370Ile	p.M370I	ENST00000295966	NM_198463.2	370	atG/atT	0	1		UPI0000EE2BB5	0	NA	ENST00000482387		ENSG00000163689	24763		25	1.995		HGNC	p.M370I		C3orf67		SNV							ENST00000295966	protein_coding	getma.org/?cm=var&var=hg19,3,58849392,C,A&fts=all		hmmpanther:PTHR12458,hmmpanther:PTHR12458:SF7		M/I		A	medium	1207/2617		getma.org/?cm=msa&ty=f&p=CC067_HUMAN&rb=1&re=687&var=M370I	tolerated(0.14)	H7C5H9_HUMAN				C3orf67,missense_variant,p.Met277Ile,ENST00000472469,;C3orf67,missense_variant,p.Met370Ile,ENST00000295966,NM_198463.2;C3orf67,missense_variant,p.Met370Ile,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,;							MODERATE	1110/2070	M370I	CC067_HUMAN			Transcript		benign(0.207)	.	ENSP00000417122					1	
CYP2A13	0	LGGM	GRCh37	19	41596433	41596433	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	3	.	.	ENST00000330436.3:c.618G>T	p.Leu206=	p.L206=	ENST00000330436	NM_000766.4	206	ctG/ctT	0	1	1	UPI000013E07A	0		ENST00000330436		ENSG00000197838	2608		31			HGNC	p.L206L		CYP2A13		SNV							ENST00000330436	protein_coding			hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF96,Gene3D:1.10.630.10,Pfam_domain:PF00067,Superfamily_domains:SSF48264		L		T		618/1739							YES	CYP2A13,synonymous_variant,p.=,ENST00000330436,NM_000766.4;							LOW	618/1485		CP2AD_HUMAN			Transcript			.	ENSP00000332679		CCDS12571.1			1	
TTN	0	LGGM	GRCh37	2	179632620	179632620	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	35	3	.	.	ENST00000589042.1:c.9337C>A	p.Arg3113Ser	p.R3113S	ENST00000589042	NM_001267550.1	3113	Cgc/Agc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=3058&to=3142&var=R3113S	ENST00000591111		ENSG00000155657	12403		38	1.12		HGNC	p.R3113S		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179632620,G,T&fts=all		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		R/S		T	low	9562/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=3058&re=3142&var=R3113S		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg3113Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Arg3113Ser,ENST00000591111,;TTN,missense_variant,p.Arg3113Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Arg3067Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Arg3067Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Arg3067Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Arg3113Ser,ENST00000360870,NM_133379.4;TTN-AS1,intron_variant,,ENST00000585451,;TTN-AS1,intron_variant,,ENST00000610005,;TTN-AS1,downstream_gene_variant,,ENST00000578746,;							MODERATE	9337/103053	R3113S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
COLEC11	0	LGGM	GRCh37	2	3687899	3687899	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	20	3	.	.	ENST00000418971.2:c.348C>A	p.Pro116=	p.P116=	ENST00000418971	NM_001255985.1	116	ccC/ccA	0	1		UPI0000049DFF	0		ENST00000349077		ENSG00000118004	17213		23			HGNC	p.P116P		COLEC11		SNV			1				ENST00000438814	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24024:SF14,hmmpanther:PTHR24024,Pfam_domain:PF01391		P		A		409/1259								COLEC11,synonymous_variant,p.=,ENST00000403096,NM_001255986.1;COLEC11,synonymous_variant,p.=,ENST00000236693,NM_199235.2;COLEC11,synonymous_variant,p.=,ENST00000382062,NM_001255983.1,NM_001255982.1;COLEC11,synonymous_variant,p.=,ENST00000418971,NM_001255985.1;COLEC11,synonymous_variant,p.=,ENST00000349077,NM_024027.4;COLEC11,synonymous_variant,p.=,ENST00000402922,NM_001255988.1;COLEC11,synonymous_variant,p.=,ENST00000402794,NM_001255987.1;COLEC11,synonymous_variant,p.=,ENST00000404205,NM_001255989.1;COLEC11,synonymous_variant,p.=,ENST00000438814,;COLEC11,non_coding_transcript_exon_variant,,ENST00000487365,;COLEC11,non_coding_transcript_exon_variant,,ENST00000460971,;COLEC11,synonymous_variant,p.=,ENST00000416132,;							LOW	306/816		COL11_HUMAN			Transcript			.	ENSP00000339168		CCDS1649.1			1	
ENAM	0	LGGM	GRCh37	4	71500281	71500281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	3	.	.	ENST00000396073.3:c.467C>A	p.Pro156His	p.P156H	ENST00000396073	NM_031889.2	156	cCt/cAt	0	1	1	UPI000013CE60	0	NA	ENST00000396073		ENSG00000132464	3344		34	2.215		HGNC	p.P156H		ENAM		SNV			1				ENST00000396073	protein_coding	getma.org/?cm=var&var=hg19,4,71500281,C,A&fts=all		hmmpanther:PTHR16784,hmmpanther:PTHR16784:SF2,Low_complexity_(Seg):seg		P/H		A	medium	748/5679		getma.org/?cm=msa&ty=f&p=ENAM_HUMAN&rb=1&re=200&var=P156H	deleterious(0)	Q8NFB4_HUMAN			YES	ENAM,missense_variant,p.Pro156His,ENST00000396073,NM_031889.2;ENAM,upstream_gene_variant,,ENST00000472903,;ENAM,upstream_gene_variant,,ENST00000472597,;							MODERATE	467/3429	P156H	ENAM_HUMAN			Transcript		benign(0.091)	.	ENSP00000379383		CCDS3544.2			1	
DHCR7	0	LGGM	GRCh37	11	71155066	71155066	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	7	3	.	.	ENST00000355527.3:c.294G>T	p.Gln98His	p.Q98H	ENST00000355527	NM_001360.2	98	caG/caT	0	1	1	UPI00000310C7	0	NA	ENST00000355527		ENSG00000172893	2860		10	1.32		HGNC	p.Q98H		DHCR7		SNV			1				ENST00000524694	protein_coding	getma.org/?cm=var&var=hg19,11,71155066,C,A&fts=all		hmmpanther:PTHR21257,hmmpanther:PTHR21257:SF22,Pfam_domain:PF01222		Q/H		A	low	571/2666		getma.org/?cm=msa&ty=f&p=DHCR7_HUMAN&rb=40&re=475&var=Q98H	tolerated(0.19)	E9PRL8_HUMAN,E9PQ71_HUMAN,E9PJ54_HUMAN,E9PIP9_HUMAN,B4E1K5_HUMAN			YES	DHCR7,missense_variant,p.Gln98His,ENST00000355527,NM_001360.2,NM_001163817.1;DHCR7,missense_variant,p.Gln98His,ENST00000407721,;DHCR7,missense_variant,p.Gln66His,ENST00000527316,;DHCR7,missense_variant,p.Gln98His,ENST00000526780,;DHCR7,missense_variant,p.Gln98His,ENST00000525346,;DHCR7,missense_variant,p.Gln98His,ENST00000531364,;DHCR7,upstream_gene_variant,,ENST00000525137,;DHCR7,upstream_gene_variant,,ENST00000534795,;DHCR7,downstream_gene_variant,,ENST00000527452,;DHCR7,downstream_gene_variant,,ENST00000529990,;RP11-660L16.2,upstream_gene_variant,,ENST00000529369,;DHCR7,upstream_gene_variant,,ENST00000534701,;							MODERATE	294/1428	Q98H	DHCR7_HUMAN			Transcript		possibly_damaging(0.537)	.	ENSP00000347717		CCDS8200.1			1	
FUT6	0	LGGM	GRCh37	19	5831614	5831614	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	24	3	.	.	ENST00000318336.4:c.965G>T	p.Arg322Leu	p.R322L	ENST00000318336	NM_000150.2	322	cGg/cTg	0	1		UPI000012ADAC	0	getma.org/pdb.php?prot=FUT6_HUMAN&from=13&to=359&var=R322L	ENST00000286955		ENSG00000156413	4017		27	3.395		HGNC	p.R322L		FUT6		SNV			1				ENST00000286955	protein_coding	getma.org/?cm=var&var=hg19,19,5831614,C,A&fts=all		Superfamily_domains:SSF53756,Pfam_domain:PF00852,hmmpanther:PTHR11929:SF134,hmmpanther:PTHR11929		R/L		A	medium	2018/2847		getma.org/?cm=msa&ty=f&p=FUT6_HUMAN&rb=13&re=359&var=R322L	deleterious(0)	E9PS22_HUMAN,E9PP56_HUMAN,E9PJB4_HUMAN,E9PJ18_HUMAN,E9PI36_HUMAN				FUT6,missense_variant,p.Arg322Leu,ENST00000318336,NM_000150.2;FUT6,missense_variant,p.Arg322Leu,ENST00000286955,NM_001040701.1;FUT6,missense_variant,p.Arg322Leu,ENST00000524754,;FUT6,missense_variant,p.Arg322Leu,ENST00000527106,;FUT6,missense_variant,p.Arg322Leu,ENST00000592563,;NRTN,downstream_gene_variant,,ENST00000303212,NM_004558.3;FUT6,downstream_gene_variant,,ENST00000529165,;FUT6,downstream_gene_variant,,ENST00000531085,;FUT6,downstream_gene_variant,,ENST00000531199,;FUT6,downstream_gene_variant,,ENST00000532464,;FUT6,downstream_gene_variant,,ENST00000528505,;FUT6,downstream_gene_variant,,ENST00000526499,;							MODERATE	965/1080	R322L	FUT6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286955		CCDS12152.1			1	
HOXA6	0	LGGM	GRCh37	7	27185286	27185286	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000222728.3:c.693G>T	p.Ala231=	p.A231=	ENST00000222728	NM_024014.3	231	gcG/gcT	0	1	1	UPI000012CF32	0		ENST00000222728		ENSG00000106006	5107		48			HGNC	p.A231A		HOXA6		SNV							ENST00000222728	protein_coding			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF142		A		A		718/989							YES	HOXA6,synonymous_variant,p.=,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,;							LOW	693/702		HXA6_HUMAN			Transcript			.	ENSP00000222728		CCDS5407.1			1	
ADRA1D	0	LGGM	GRCh37	20	4202204	4202204	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	23	3	.	.	ENST00000379453.4:c.1685C>T	p.Ala562Val	p.A562V	ENST00000379453	NM_000678.3	562	gCc/gTc	0	1	1	UPI000003B078	0	NA	ENST00000379453		ENSG00000171873	280		26	0.895		HGNC	p.A562V		ADRA1D		SNV							ENST00000379453	protein_coding	getma.org/?cm=var&var=hg19,20,4202204,G,A&fts=all		Prints_domain:PR00240		A/V		A	low	1802/2677		getma.org/?cm=msa&ty=f&p=ADA1D_HUMAN&rb=403&re=572&var=A562V	tolerated_low_confidence(0.06)	B0ZBE0_HUMAN			YES	ADRA1D,missense_variant,p.Ala562Val,ENST00000379453,NM_000678.3;							MODERATE	1685/1719	A562V	ADA1D_HUMAN			Transcript		benign(0.004)	.	ENSP00000368766		CCDS13079.1			1	
KIF19	0	LGGM	GRCh37	17	72351386	72351386	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	3	.	.	ENST00000389916.4:c.2932C>A	p.Arg978Ser	p.R978S	ENST00000389916	NM_153209.3	978	Cgt/Agt	0	1	1	UPI0000F0A553	0	NA	ENST00000389916		ENSG00000196169	26735		22	1.245		HGNC	p.R978S		KIF19		SNV							ENST00000389916	protein_coding	getma.org/?cm=var&var=hg19,17,72351386,C,A&fts=all				R/S		A	low	3070/3643		getma.org/?cm=msa&ty=f&p=KIF19_HUMAN&rb=427&re=996&var=R978S	deleterious_low_confidence(0.02)				YES	KIF19,missense_variant,p.Arg978Ser,ENST00000389916,NM_153209.3;KIF19,downstream_gene_variant,,ENST00000551294,;BTBD17,downstream_gene_variant,,ENST00000375366,NM_001080466.1;AC103809.2,upstream_gene_variant,,ENST00000599136,;KIF19,downstream_gene_variant,,ENST00000547389,;KIF19,downstream_gene_variant,,ENST00000359939,;KIF19,downstream_gene_variant,,ENST00000549637,;							MODERATE	2932/2997	R978S	KIF19_HUMAN			Transcript		benign(0.131)	.	ENSP00000374566		CCDS32718.2			1	
PIGR	0	LGGM	GRCh37	1	207108046	207108046	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	3	.	.	ENST00000356495.4:c.1424G>T	p.Gly475Val	p.G475V	ENST00000356495	NM_002644.3	475	gGa/gTa	0	1	1	UPI000007407E	0	getma.org/pdb.php?prot=PIGR_HUMAN&from=461&to=562&var=G475V	ENST00000356495		ENSG00000162896	8968		30	3.045		HGNC	p.G475V		PIGR		SNV							ENST00000356495	protein_coding	getma.org/?cm=var&var=hg19,1,207108046,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/V		A	medium	1608/4279		getma.org/?cm=msa&ty=f&p=PIGR_HUMAN&rb=461&re=562&var=G475V	deleterious(0)				YES	PIGR,missense_variant,p.Gly475Val,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;							MODERATE	1424/2295	G475V	PIGR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000348888		CCDS1474.1			1	
TMEM62	0	LGGM	GRCh37	15	43427781	43427781	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000260403.2:c.364C>A	p.Gln122Lys	p.Q122K	ENST00000260403	NM_024956.3	122	Cag/Aag	0	1	1	UPI00004443FD	0	NA	ENST00000260403		ENSG00000137842	26269		48	1.075		HGNC	p.Q122K	rs778134491	TMEM62		SNV							ENST00000260403	protein_coding	getma.org/?cm=var&var=hg19,15,43427781,C,A&fts=all		hmmpanther:PTHR14795,Gene3D:3.60.21.10,Superfamily_domains:SSF56300		Q/K		A	low	643/2771		getma.org/?cm=msa&ty=f&p=TMM62_HUMAN&rb=25&re=434&var=Q122K	tolerated(0.4)	H3BTT1_HUMAN,H3BPV2_HUMAN			YES	TMEM62,missense_variant,p.Gln122Lys,ENST00000260403,NM_024956.3;TMEM62,missense_variant,p.Gln54Lys,ENST00000564494,;TMEM62,5_prime_UTR_variant,,ENST00000564698,;TMEM62,5_prime_UTR_variant,,ENST00000565291,;EPB42,intron_variant,,ENST00000570199,;TMEM62,3_prime_UTR_variant,,ENST00000567441,;TMEM62,5_prime_UTR_variant,,ENST00000569535,;TMEM62,3_prime_UTR_variant,,ENST00000569926,;TMEM62,3_prime_UTR_variant,,ENST00000568182,;TMEM62,3_prime_UTR_variant,,ENST00000568197,;TMEM62,non_coding_transcript_exon_variant,,ENST00000570109,;SPCS2P1,downstream_gene_variant,,ENST00000561636,;	0.00151						MODERATE	364/1932	Q122K	TMM62_HUMAN			Transcript		benign(0.199)	common_variant	ENSP00000260403	0.000107	CCDS32210.1			1	
ZBTB40	0	LGGM	GRCh37	1	22852848	22852848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	3	.	.	ENST00000404138.1:c.3679C>A	p.Leu1227Met	p.L1227M	ENST00000404138	NM_001083621.1	1227	Ctg/Atg	0	1		UPI0000204652	0	NA	ENST00000375647		ENSG00000184677	29045		30	2.075		HGNC	p.L1227M		ZBTB40		SNV							ENST00000404138	protein_coding	getma.org/?cm=var&var=hg19,1,22852848,C,A&fts=all		hmmpanther:PTHR24394,hmmpanther:PTHR24394:SF0		L/M		A	medium	3886/8685		getma.org/?cm=msa&ty=f&p=ZBT40_HUMAN&rb=1159&re=1239&var=L1227M	deleterious(0.01)	B1AKC8_HUMAN				ZBTB40,missense_variant,p.Leu1227Met,ENST00000404138,NM_001083621.1;ZBTB40,missense_variant,p.Leu1227Met,ENST00000375647,NM_014870.3;ZBTB40,missense_variant,p.Leu1115Met,ENST00000374651,;							MODERATE	3679/3720	L1227M	ZBT40_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000364798		CCDS224.1			1	
KSR2	0	LGGM	GRCh37	12	117962812	117962812	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	23	3	.	.	ENST00000339824.5:c.2064G>T	p.Glu688Asp	p.E688D	ENST00000339824		688	gaG/gaT	0	1	1	UPI000152636C	0	getma.org/pdb.php?prot=KSR2_HUMAN&from=666&to=928&var=E688D	ENST00000339824		ENSG00000171435	18610		26	0.22		HGNC	p.E385D		KSR2		SNV							ENST00000302438	protein_coding	getma.org/?cm=var&var=hg19,12,117962812,C,A&fts=all		Gene3D:3.30.200.20,Pfam_domain:PF07714,PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF376,SMART_domains:SM00220,Superfamily_domains:SSF56112		E/D		A	neutral	2792/4429		getma.org/?cm=msa&ty=f&p=KSR2_HUMAN&rb=666&re=928&var=E688D	tolerated(0.21)	E9PB13_HUMAN			YES	KSR2,missense_variant,p.Glu659Asp,ENST00000425217,NM_173598.4;KSR2,missense_variant,p.Glu688Asp,ENST00000339824,;KSR2,missense_variant,p.Glu385Asp,ENST00000302438,;KSR2,non_coding_transcript_exon_variant,,ENST00000545002,;							MODERATE	2064/2853	E688D	KSR2_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000339952					1	
PTBP3	0	LGGM	GRCh37	9	114997118	114997118	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	3	.	.	ENST00000458258.1:c.964G>T	p.Gly322Ter	p.G322*	ENST00000458258	NM_001244898.1	322	Gga/Tga	0	1		UPI000021161D	0	NA	ENST00000374255		ENSG00000119314	10253		29	0		HGNC	p.G322X		PTBP3		SNV							ENST00000458258	protein_coding	getma.org/?cm=var&var=hg19,9,114997118,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11546:SF21,hmmpanther:PTHR11546,TIGRFAM_domain:TIGR01649		G/*		A	NA	1094/3413		NA						PTBP3,stop_gained,p.Gly319Ter,ENST00000334318,NM_005156.6,NM_001163790.2;PTBP3,stop_gained,p.Gly288Ter,ENST00000374257,NM_001244897.1,NM_001163788.2,NM_001244896.1;PTBP3,stop_gained,p.Gly322Ter,ENST00000458258,NM_001244898.1;PTBP3,stop_gained,p.Gly316Ter,ENST00000374255,;PTBP3,stop_gained,p.Gly221Ter,ENST00000343327,;							HIGH	946/1659	G316*	PTBP3_HUMAN			Transcript			.	ENSP00000363373		CCDS6784.1			1	
COL7A1	0	LGGM	GRCh37	3	48626365	48626365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	3	.	.	ENST00000328333.8:c.2378G>T	p.Arg793Leu	p.R793L	ENST00000328333	NM_000094.3	793	cGg/cTg	0	1	1	UPI0000126D20	0	getma.org/pdb.php?prot=CO7A1_HUMAN&from=777&to=855&var=R793L	ENST00000328333		ENSG00000114270	2214		25	1.67		HGNC	p.R793L		COL7A1		SNV			1				ENST00000328333	protein_coding	getma.org/?cm=var&var=hg19,3,48626365,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR24023,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/L		A	low	2486/9276		getma.org/?cm=msa&ty=f&p=CO7A1_HUMAN&rb=777&re=855&var=R793L					YES	COL7A1,missense_variant,p.Arg793Leu,ENST00000328333,NM_000094.3;COL7A1,missense_variant,p.Arg793Leu,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000487017,;							MODERATE	2378/8835	R793L	CO7A1_HUMAN			Transcript		unknown(0)	.	ENSP00000332371		CCDS2773.1			1	
UVSSA	0	LGGM	GRCh37	4	1348538	1348538	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	3	.	.	ENST00000389851.4:c.950A>T	p.Gln317Leu	p.Q317L	ENST00000389851	NM_020894.2	317	cAg/cTg	0	1	1	UPI00001C1E0C	0	NA	ENST00000389851		ENSG00000163945	29304		13	1.39		HGNC	p.Q317L		UVSSA		SNV			1				ENST00000507531	protein_coding	getma.org/?cm=var&var=hg19,4,1348538,A,T&fts=all				Q/L		T	low	1397/4560		getma.org/?cm=msa&ty=f&p=K1530_HUMAN&rb=201&re=400&var=Q317L	tolerated(0.09)				YES	UVSSA,missense_variant,p.Gln317Leu,ENST00000389851,NM_020894.2;UVSSA,missense_variant,p.Gln317Leu,ENST00000511216,;UVSSA,missense_variant,p.Gln317Leu,ENST00000507531,;AC078852.1,upstream_gene_variant,,ENST00000504748,;AC078852.2,upstream_gene_variant,,ENST00000515842,;UVSSA,non_coding_transcript_exon_variant,,ENST00000505716,;							MODERATE	950/2130	Q317L	UVSSA_HUMAN			Transcript		benign(0.005)	.	ENSP00000374501		CCDS33938.1			1	
SPATC1	0	LGGM	GRCh37	8	145101785	145101785	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	3	.	.	ENST00000377470.3:c.1704C>A	p.Ala568=	p.A568=	ENST00000377470	NM_198572.2	568	gcC/gcA	0	1	1	UPI00001D8243	0		ENST00000377470		ENSG00000186583	30510		18			HGNC	p.A568A		SPATC1		SNV							ENST00000377470	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22192,hmmpanther:PTHR22192:SF16,Pfam_domain:PF15059		A		A		1806/1954							YES	SPATC1,synonymous_variant,p.=,ENST00000377470,NM_198572.2;SPATC1,3_prime_UTR_variant,,ENST00000447830,NM_001134374.1;OPLAH,downstream_gene_variant,,ENST00000426825,NM_017570.3;CTD-3065J16.6,upstream_gene_variant,,ENST00000528912,;CTD-3065J16.6,upstream_gene_variant,,ENST00000561181,;OPLAH,downstream_gene_variant,,ENST00000534424,;							LOW	1704/1776		SPERI_HUMAN			Transcript			.	ENSP00000366690		CCDS6413.2			1	
C9orf131	0	LGGM	GRCh37	9	35045627	35045627	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	41	3	.	.	ENST00000312292.5:c.3001C>A	p.His1001Asn	p.H1001N	ENST00000312292	NM_203299.2	1001	Cac/Aac	0	1	1	UPI00001605AC	0	NA	ENST00000312292		ENSG00000174038	31418		44	0.975		HGNC	p.H928N		C9orf131		SNV							ENST00000354479	protein_coding	getma.org/?cm=var&var=hg19,9,35045627,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21777		H/N		A	low	3048/3409		getma.org/?cm=msa&ty=f&p=CI131_HUMAN&rb=995&re=1077&var=H1001N	tolerated(0.06)				YES	C9orf131,missense_variant,p.His1001Asn,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,missense_variant,p.His953Asn,ENST00000421362,NM_001040412.1;C9orf131,missense_variant,p.His928Asn,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,;							MODERATE	3001/3240	H1001N	CI131_HUMAN			Transcript		benign(0.356)	.	ENSP00000308279		CCDS6572.2			1	
DUSP7	0	LGGM	GRCh37	3	52088333	52088333	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	3	.	.	ENST00000495880.1:c.575G>T	p.Ser192Ile	p.S192I	ENST00000495880		192	aGc/aTc	0	1	1	UPI0000185FA8	0	getma.org/pdb.php?prot=DUS7_HUMAN&from=131&to=200&var=S192I	ENST00000495880		ENSG00000164086	3073		21	1.845		HGNC	p.S125I		DUSP7		SNV							ENST00000469623	protein_coding	getma.org/?cm=var&var=hg19,3,52088333,C,A&fts=all		PIRSF_domain:PIRSF000939,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF305,Low_complexity_(Seg):seg		S/I		A	low	759/3340		getma.org/?cm=msa&ty=f&p=DUS7_HUMAN&rb=131&re=200&var=S192I	deleterious(0.03)				YES	DUSP7,missense_variant,p.Ser192Ile,ENST00000495880,;DUSP7,missense_variant,p.Ser141Ile,ENST00000296483,NM_001947.3;DUSP7,missense_variant,p.Ser125Ile,ENST00000469623,;							MODERATE	575/1260	S192I	DUS7_HUMAN			Transcript		benign(0.117)	.	ENSP00000417183		CCDS33766.2			1	
KCNMA1	0	LGGM	GRCh37	10	79163691	79163691	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	3	.	.	ENST00000404857.1:c.469G>T	p.Gly157Cys	p.G157C	ENST00000404857	NM_001161353.1	157	Ggc/Tgc	0	1		UPI00003519E7	0	NA	ENST00000286628		ENSG00000156113	6284		31	1.76		HGNC	p.G131C		KCNMA1		SNV			1				ENST00000457953	protein_coding	getma.org/?cm=var&var=hg19,10,79163691,C,A&fts=all		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF18		G/C		A	low	469/6096		getma.org/?cm=msa&ty=f&p=KCMA1_HUMAN&rb=1&re=200&var=G157C	tolerated(0.09)	Q5SVK3_HUMAN				KCNMA1,missense_variant,p.Gly18Cys,ENST00000604624,NM_001271518.1,NM_001014797.2;KCNMA1,missense_variant,p.Gly157Cys,ENST00000286627,NM_002247.3,NM_001271519.1;KCNMA1,missense_variant,p.Gly157Cys,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Gly157Cys,ENST00000372443,;KCNMA1,missense_variant,p.Gly157Cys,ENST00000372440,;KCNMA1,missense_variant,p.Gly157Cys,ENST00000404771,;KCNMA1,missense_variant,p.Gly131Cys,ENST00000457953,;KCNMA1,missense_variant,p.Gly92Cys,ENST00000372437,;KCNMA1,missense_variant,p.Gly131Cys,ENST00000372421,;KCNMA1,missense_variant,p.Gly157Cys,ENST00000406533,;KCNMA1,missense_variant,p.Gly157Cys,ENST00000354353,;KCNMA1,missense_variant,p.Gly157Cys,ENST00000404857,NM_001161353.1;KCNMA1,missense_variant,p.Gly94Cys,ENST00000372408,;KCNMA1,missense_variant,p.Gly108Cys,ENST00000372403,;							MODERATE	469/3711	G157C	KCMA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286628		CCDS60569.1			1	
SEC14L3	0	LGGM	GRCh37	22	30866501	30866501	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	8	3	.	.	ENST00000215812.4:c.123G>C	p.Trp41Cys	p.W41C	ENST00000215812	NM_174975.4	41	tgG/tgC	0	1	1	UPI000000D83C	0	getma.org/pdb.php?prot=S14L3_HUMAN&from=13&to=59&var=W41C	ENST00000215812		ENSG00000100012	18655		11	3.625		HGNC	p.W41C		SEC14L3		SNV							ENST00000215812	protein_coding	getma.org/?cm=var&var=hg19,22,30866501,C,G&fts=all		hmmpanther:PTHR23324:SF62,hmmpanther:PTHR23324,Gene3D:3.40.525.10,Pfam_domain:PF03765,SMART_domains:SM01100,Superfamily_domains:SSF46938,Prints_domain:PR00180		W/C		G	high	214/2086		getma.org/?cm=msa&ty=f&p=S14L3_HUMAN&rb=13&re=59&var=W41C	deleterious(0)				YES	SEC14L3,missense_variant,p.Trp41Cys,ENST00000215812,NM_174975.4;SEC14L3,missense_variant,p.Gly22Ala,ENST00000435069,;SEC14L3,5_prime_UTR_variant,,ENST00000403066,;SEC14L3,5_prime_UTR_variant,,ENST00000415957,;SEC14L3,5_prime_UTR_variant,,ENST00000402286,NM_001257378.1;SEC14L3,5_prime_UTR_variant,,ENST00000539629,NM_001257382.1;SEC14L3,5_prime_UTR_variant,,ENST00000540910,;SEC14L3,5_prime_UTR_variant,,ENST00000401751,NM_001257379.1;SEC14L3,3_prime_UTR_variant,,ENST00000434642,;							MODERATE	123/1203	W41C	S14L3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000215812		CCDS13877.1			1	
HYDIN	0	LGGM	GRCh37	16	71127820	71127820	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	30	3	.	.	ENST00000393567.2:c.1346C>A	p.Pro449His	p.P449H	ENST00000393567	NM_001270974.1	449	cCc/cAc	0	1	1	UPI0001FEF4F9	0	NA	ENST00000393567		ENSG00000157423	19368		33	2.765		HGNC	p.P237H	COSM375631,COSM375632,COSM375634,COSM375633	HYDIN		SNV			1			1,1,1,1	ENST00000545230	protein_coding	getma.org/?cm=var&var=hg19,16,71127820,G,T&fts=all		hmmpanther:PTHR23053,hmmpanther:PTHR23053:SF5		P/H		T	medium	1497/15719		getma.org/?cm=msa&ty=f&p=HYDIN_HUMAN&rb=1&re=1902&var=P449H		K0A1M3_HUMAN,I1Z9D0_HUMAN,F5H8I6_HUMAN,F5GXK3_HUMAN			YES	HYDIN,missense_variant,p.Pro449His,ENST00000393567,NM_001270974.1;HYDIN,missense_variant,p.Pro449His,ENST00000448089,;HYDIN,missense_variant,p.Pro449His,ENST00000321489,NM_017558.4;HYDIN,missense_variant,p.Pro449His,ENST00000448691,;HYDIN,missense_variant,p.Pro476His,ENST00000538248,NM_001198542.1;HYDIN,missense_variant,p.Pro466His,ENST00000541601,NM_001198543.1;HYDIN,missense_variant,p.Pro466His,ENST00000288168,;HYDIN,missense_variant,p.Pro449His,ENST00000393550,;RP11-23E19.1,downstream_gene_variant,,ENST00000568931,;RP11-23E19.1,downstream_gene_variant,,ENST00000563968,;HYDIN,missense_variant,p.Pro67His,ENST00000393552,;HYDIN,missense_variant,p.Pro237His,ENST00000545230,;HYDIN,3_prime_UTR_variant,,ENST00000539447,;					1,1,1,1		MODERATE	1346/15366	P449H	HYDIN_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000377197		CCDS59269.1			1	
GATAD2A	0	LGGM	GRCh37	19	19603231	19603231	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	3	.	.	ENST00000360315.3:c.386G>T	p.Ser129Ile	p.S129I	ENST00000360315	NM_017660.3	129	aGc/aTc	0	1		UPI000000D88C	0	NA	ENST00000358713		ENSG00000167491	29989		21	1.65		HGNC	p.S129I		GATAD2A		SNV							ENST00000457895	protein_coding	getma.org/?cm=var&var=hg19,19,19603231,G,T&fts=all		hmmpanther:PTHR13455,hmmpanther:PTHR13455:SF3		S/I		T	low	541/5510		getma.org/?cm=msa&ty=f&p=P66A_HUMAN&rb=1&re=200&var=S129I	deleterious(0.01)	C9JVY3_HUMAN,C9JMI3_HUMAN,C9JJK9_HUMAN,C9JHD7_HUMAN,C9JGN4_HUMAN				GATAD2A,missense_variant,p.Ser129Ile,ENST00000404158,;GATAD2A,missense_variant,p.Ser129Ile,ENST00000360315,NM_017660.3;GATAD2A,missense_variant,p.Ser129Ile,ENST00000252577,;GATAD2A,missense_variant,p.Ser129Ile,ENST00000358713,;GATAD2A,missense_variant,p.Ser129Ile,ENST00000457895,;GATAD2A,missense_variant,p.Ser129Ile,ENST00000417582,;GATAD2A,missense_variant,p.Ser129Ile,ENST00000432704,;GATAD2A,intron_variant,,ENST00000429563,;GATAD2A,intron_variant,,ENST00000537887,;GATAD2A,downstream_gene_variant,,ENST00000444839,;GATAD2A,downstream_gene_variant,,ENST00000429242,;GATAD2A,non_coding_transcript_exon_variant,,ENST00000473184,;GATAD2A,intron_variant,,ENST00000418032,;GATAD2A,intron_variant,,ENST00000609040,;							MODERATE	386/1902	S129I	P66A_HUMAN			Transcript		benign(0.091)	.	ENSP00000351552		CCDS12402.2			1	
AHI1	0	LGGM	GRCh37	6	135777058	135777058	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000367800.4:c.1158G>A	p.Arg386=	p.R386=	ENST00000367800	NM_001134830.1	386	cgG/cgA	0	1		UPI00000701FB	0		ENST00000265602		ENSG00000135541	21575		48			HGNC	p.R386R	rs774823036	AHI1		SNV			1				ENST00000265602	protein_coding			hmmpanther:PTHR22847:SF50,hmmpanther:PTHR22847		R		T		1553/4335								AHI1,synonymous_variant,p.=,ENST00000367800,NM_001134830.1;AHI1,synonymous_variant,p.=,ENST00000457866,NM_017651.4;AHI1,synonymous_variant,p.=,ENST00000265602,NM_001134831.1;AHI1,synonymous_variant,p.=,ENST00000327035,NM_001134832.1;AHI1,synonymous_variant,p.=,ENST00000531788,;							LOW	1158/3591		AHI1_HUMAN			Transcript			.	ENSP00000265602	8.31E-06	CCDS47483.1			1	
ARHGEF4	0	LGGM	GRCh37	2	131802986	131802986	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	21	3	.	.	ENST00000326016.5:c.1888G>T	p.Ala630Ser	p.A630S	ENST00000326016	NM_015320.3	630	Gcc/Tcc	0	1	1	UPI00001417F6	0	NA	ENST00000326016		ENSG00000136002	684		24	1.975		HGNC	p.A630S		ARHGEF4		SNV							ENST00000326016	protein_coding	getma.org/?cm=var&var=hg19,2,131802986,G,T&fts=all		Superfamily_domains:SSF50729,hmmpanther:PTHR22826:SF116,hmmpanther:PTHR22826		A/S		T	medium	2407/3656		getma.org/?cm=msa&ty=f&p=ARHG4_HUMAN&rb=605&re=690&var=A630S	deleterious(0.03)	Q9NTG0_HUMAN,Q53TH6_HUMAN,Q53QF2_HUMAN			YES	ARHGEF4,missense_variant,p.Ala630Ser,ENST00000392953,;ARHGEF4,missense_variant,p.Ala630Ser,ENST00000525839,NM_032995.2;ARHGEF4,missense_variant,p.Ala630Ser,ENST00000326016,NM_015320.3;ARHGEF4,missense_variant,p.Ala570Ser,ENST00000409303,;ARHGEF4,missense_variant,p.Ala559Ser,ENST00000355771,;ARHGEF4,missense_variant,p.Ala247Ser,ENST00000532720,;ARHGEF4,intron_variant,,ENST00000428230,;ARHGEF4,intron_variant,,ENST00000438985,;FAM168B,downstream_gene_variant,,ENST00000409185,NM_001009993.2;ARHGEF4,downstream_gene_variant,,ENST00000439368,;ARHGEF4,non_coding_transcript_exon_variant,,ENST00000490728,;ARHGEF4,downstream_gene_variant,,ENST00000525092,;ARHGEF4,downstream_gene_variant,,ENST00000527365,;							MODERATE	1888/2073	A630S	ARHG4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000316845		CCDS2165.1			1	
TTC7A	0	LGGM	GRCh37	2	47278949	47278949	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	3	.	.	ENST00000319190.5:c.2082G>C	p.Met694Ile	p.M694I	ENST00000319190	NM_020458.2	694	atG/atC	0	1	1	UPI00001BDC89	0	NA	ENST00000319190		ENSG00000068724	19750		16	0.345		HGNC	p.M660I		TTC7A		SNV			1				ENST00000409245	protein_coding	getma.org/?cm=var&var=hg19,2,47278949,G,C&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF342		M/I		C	neutral	2450/5157		getma.org/?cm=msa&ty=f&p=TTC7A_HUMAN&rb=577&re=748&var=M694I	tolerated(0.3)	F5H4E1_HUMAN			YES	TTC7A,missense_variant,p.Met694Ile,ENST00000319190,NM_020458.2;TTC7A,missense_variant,p.Met718Ile,ENST00000394850,;TTC7A,missense_variant,p.Met660Ile,ENST00000409245,;TTC7A,missense_variant,p.Met340Ile,ENST00000263737,;TTC7A,non_coding_transcript_exon_variant,,ENST00000484337,;C2orf61,intron_variant,,ENST00000496939,;TTC7A,downstream_gene_variant,,ENST00000461601,;TTC7A,downstream_gene_variant,,ENST00000496991,;TTC7A,3_prime_UTR_variant,,ENST00000409825,;TTC7A,3_prime_UTR_variant,,ENST00000441914,;TTC7A,non_coding_transcript_exon_variant,,ENST00000491786,;TTC7A,non_coding_transcript_exon_variant,,ENST00000484061,;TTC7A,downstream_gene_variant,,ENST00000440051,;							MODERATE	2082/2577	M694I	TTC7A_HUMAN			Transcript		benign(0)	.	ENSP00000316699		CCDS33193.1			1	
OR4S2	0	LGGM	GRCh37	11	55418523	55418523	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	3	.	.	ENST00000312422.2:c.144C>A	p.Cys48Ter	p.C48*	ENST00000312422	NM_001004059.2	48	tgC/tgA	0	1	1	UPI00001D77D2	0	NA	ENST00000312422		ENSG00000174982	15183		30	0		HGNC	p.C48X		OR4S2		SNV							ENST00000312422	protein_coding	getma.org/?cm=var&var=hg19,11,55418523,C,A&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF110,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		C/*		A	NA	144/936		NA					YES	OR4S2,stop_gained,p.Cys48Ter,ENST00000312422,NM_001004059.2;							HIGH	144/936	C48*	OR4S2_HUMAN			Transcript			.	ENSP00000310337		CCDS31505.1			1	
MRPS24	0	LGGM	GRCh37	7	43906328	43906328	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	3	.	.	ENST00000317534.5:c.474G>T	p.Val158=	p.V158=	ENST00000317534	NM_032014.2	158	gtG/gtT	0	1	1	UPI000006F034	0		ENST00000317534		ENSG00000062582	14510		35			HGNC	p.V158V		MRPS24		SNV							ENST00000317534	protein_coding			Pfam_domain:PF14955,hmmpanther:PTHR21244		V		A		536/707							YES	MRPS24,synonymous_variant,p.=,ENST00000317534,NM_032014.2;URGCP-MRPS24,3_prime_UTR_variant,,ENST00000603700,NM_001204871.1;MRPS24,downstream_gene_variant,,ENST00000467084,;MRPS24,3_prime_UTR_variant,,ENST00000418740,;MRPS24,downstream_gene_variant,,ENST00000414932,;MRPS24,downstream_gene_variant,,ENST00000483330,;							LOW	474/504		RT24_HUMAN			Transcript			.	ENSP00000318158		CCDS5473.1			1	
KCNN3	0	LGGM	GRCh37	1	154705586	154705586	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	38	3	.	.	ENST00000271915.4:c.1483C>G	p.Leu495Val	p.L495V	ENST00000271915	NM_001204087.1	495	Ctg/Gtg	0	1	1	UPI000013D915	0	getma.org/pdb.php?prot=KCNN3_HUMAN&from=466&to=553&var=L500V	ENST00000271915		ENSG00000143603	6292		41	1.96		HGNC	p.L495V		KCNN3		SNV							ENST00000271915	protein_coding	getma.org/?cm=var&var=hg19,1,154705586,G,C&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR10153:SF35,hmmpanther:PTHR10153,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324		L/V		C	medium	1799/13033		getma.org/?cm=msa&ty=f&p=KCNN3_HUMAN&rb=466&re=553&var=L500V	deleterious(0.02)	Q6JXY2_HUMAN			YES	KCNN3,missense_variant,p.Leu495Val,ENST00000271915,NM_001204087.1,NM_002249.5;KCNN3,missense_variant,p.Leu190Val,ENST00000361147,NM_170782.2;KCNN3,missense_variant,p.Leu182Val,ENST00000358505,;							MODERATE	1483/2196	L500V				Transcript		possibly_damaging(0.741)	.	ENSP00000271915		CCDS30880.1			1	
GNPTG	0	LGGM	GRCh37	16	1412213	1412213	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	3	.	.	ENST00000204679.4:c.418C>A	p.Leu140Met	p.L140M	ENST00000204679	NM_032520.4	140	Ctg/Atg	0	1	1	UPI0000073F3C	0	NA	ENST00000204679		ENSG00000090581	23026		17	2.395		HGNC	p.L140M		GNPTG		SNV			1				ENST00000204679	protein_coding	getma.org/?cm=var&var=hg19,16,1412213,C,A&fts=all		hmmpanther:PTHR12630,hmmpanther:PTHR12630:SF6,Pfam_domain:PF13015,Gene3D:2.70.130.10,Superfamily_domains:SSF50911		L/M		A	medium	461/1221		getma.org/?cm=msa&ty=f&p=GNPTG_HUMAN&rb=48&re=211&var=L140M	deleterious(0.02)	Q96RZ2_HUMAN			YES	GNPTG,missense_variant,p.Leu140Met,ENST00000204679,NM_032520.4;GNPTG,missense_variant,p.Leu163Met,ENST00000529110,;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,;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,;							MODERATE	418/918	L140M	GNPTG_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000204679		CCDS10436.1			1	
SALL2	0	LGGM	GRCh37	14	21991089	21991089	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	3	.	.	ENST00000327430.3:c.2773G>T	p.Ala925Ser	p.A925S	ENST00000327430	NM_005407.1	925	Gct/Tct	0	1	1	UPI00001AF54D	0	NA	ENST00000327430		ENSG00000165821	10526		31	0.24		HGNC	p.A925S		SALL2		SNV			1				ENST00000327430	protein_coding	getma.org/?cm=var&var=hg19,14,21991089,C,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A/S		A	neutral	3068/4925		getma.org/?cm=msa&ty=f&p=SALL2_HUMAN&rb=905&re=971&var=A925S	tolerated(0.12)	F5H1G6_HUMAN			YES	SALL2,missense_variant,p.Ala925Ser,ENST00000327430,NM_005407.1;SALL2,missense_variant,p.Ala788Ser,ENST00000450879,;SALL2,missense_variant,p.Ala784Ser,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,;							MODERATE	2773/3024	A925S	SALL2_HUMAN			Transcript		possibly_damaging(0.594)	.	ENSP00000333537		CCDS32045.1			1	
CCDC151	0	LGGM	GRCh37	19	11545638	11545638	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000356392.4:c.200T>C	p.Val67Ala	p.V67A	ENST00000356392	NM_145045.4	67	gTg/gCg	0	1	1	UPI000040CC83	0	NA	ENST00000356392		ENSG00000198003	28303		48	1.935		HGNC	p.V67A		CCDC151		SNV			1				ENST00000591179	protein_coding	getma.org/?cm=var&var=hg19,19,11545638,A,G&fts=all		hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF1		V/A		G	medium	288/2107		getma.org/?cm=msa&ty=f&p=CC151_HUMAN&rb=1&re=473&var=V67A	tolerated(0.09)	K7EPK8_HUMAN,B7ZMB9_HUMAN			YES	CCDC151,missense_variant,p.Val67Ala,ENST00000356392,NM_145045.4;CCDC151,missense_variant,p.Val67Ala,ENST00000591179,;CCDC151,intron_variant,,ENST00000545100,;CCDC151,intron_variant,,ENST00000586836,;PRKCSH,upstream_gene_variant,,ENST00000252455,NM_002743.2;PRKCSH,upstream_gene_variant,,ENST00000412601,NM_001001329.1;PRKCSH,upstream_gene_variant,,ENST00000591462,;PRKCSH,upstream_gene_variant,,ENST00000587327,;PRKCSH,upstream_gene_variant,,ENST00000592741,;PRKCSH,upstream_gene_variant,,ENST00000589838,;PRKCSH,upstream_gene_variant,,ENST00000589126,;PRKCSH,upstream_gene_variant,,ENST00000593101,;PRKCSH,upstream_gene_variant,,ENST00000591946,;PRKCSH,upstream_gene_variant,,ENST00000588269,;PRKCSH,upstream_gene_variant,,ENST00000587509,;snoU13,upstream_gene_variant,,ENST00000459022,;PRKCSH,upstream_gene_variant,,ENST00000593053,;PRKCSH,upstream_gene_variant,,ENST00000593104,;CCDC151,missense_variant,p.Val67Ala,ENST00000591345,;CCDC151,non_coding_transcript_exon_variant,,ENST00000593281,;							MODERATE	200/1788	V67A	CC151_HUMAN			Transcript		benign(0.009)	.	ENSP00000348757		CCDS42501.1			1	
ZNF585B	0	LGGM	GRCh37	19	37677270	37677270	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	33	3	.	.	ENST00000532828.2:c.1169C>A	p.Ala390Asp	p.A390D	ENST00000532828	NM_152279.3	390	gCc/gAc	0	1	1	UPI00001AF01B	0	getma.org/pdb.php?prot=Z585B_HUMAN&from=368&to=393&var=A390D	ENST00000532828		ENSG00000245680	30948		36	1.955		HGNC	p.A390D		ZNF585B		SNV							ENST00000532828	protein_coding	getma.org/?cm=var&var=hg19,19,37677270,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF105,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		A/D		T	medium	1421/6210		getma.org/?cm=msa&ty=f&p=Z585B_HUMAN&rb=348&re=413&var=A390D	deleterious(0.01)	E9PQH3_HUMAN,B3KRH5_HUMAN			YES	ZNF585B,missense_variant,p.Ala390Asp,ENST00000532828,NM_152279.3;ZNF585B,missense_variant,p.Ala335Asp,ENST00000531805,;ZNF585B,3_prime_UTR_variant,,ENST00000527838,;ZNF585B,5_prime_UTR_variant,,ENST00000312908,;CTC-454I21.3,intron_variant,,ENST00000588873,;ZNF585B,downstream_gene_variant,,ENST00000591492,;ZNF585B,downstream_gene_variant,,ENST00000586320,;CTC-454I21.3,intron_variant,,ENST00000585860,;CTC-454I21.3,intron_variant,,ENST00000590245,;ZNF585B,downstream_gene_variant,,ENST00000392156,;ZNF585B,downstream_gene_variant,,ENST00000591273,;ZNF585B,downstream_gene_variant,,ENST00000526705,;							MODERATE	1169/2310	A390D	Z585B_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000433773		CCDS12500.1			1	
OCA2	0	LGGM	GRCh37	15	28273039	28273039	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	3	.	.	ENST00000354638.3:c.493C>A	p.Arg165=	p.R165=	ENST00000354638	NM_000275.2	165	Cga/Aga	0	1	1	UPI000013D158	0		ENST00000354638		ENSG00000104044	8101		34			HGNC	p.R165R		OCA2		SNV			1				ENST00000354638	protein_coding					R		T		649/3186				C9JDV3_HUMAN			YES	OCA2,synonymous_variant,p.=,ENST00000354638,NM_000275.2;OCA2,synonymous_variant,p.=,ENST00000353809,;OCA2,synonymous_variant,p.=,ENST00000382996,;OCA2,synonymous_variant,p.=,ENST00000431101,;OCA2,synonymous_variant,p.=,ENST00000445578,;							LOW	493/2517		P_HUMAN			Transcript			.	ENSP00000346659		CCDS10020.1			1	
CUL3	0	LGGM	GRCh37	2	225379405	225379405	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	39	3	.	.	ENST00000264414.4:c.463G>T	p.Gly155Trp	p.G155W	ENST00000264414	NM_003590.4	155	Ggg/Tgg	0	1	1	UPI0000001C83	0	getma.org/pdb.php?prot=CUL3_HUMAN&from=34&to=666&var=G155W	ENST00000264414		ENSG00000036257	2553		42	2.32		HGNC	p.G89W		CUL3		SNV			1				ENST00000344951	protein_coding	getma.org/?cm=var&var=hg19,2,225379405,C,A&fts=all		hmmpanther:PTHR11932,Pfam_domain:PF00888,Superfamily_domains:SSF74788		G/W		A	medium	802/6741		getma.org/?cm=msa&ty=f&p=CUL3_HUMAN&rb=34&re=666&var=G155W	deleterious(0.02)	Q53S54_HUMAN,Q53RD1_HUMAN			YES	CUL3,missense_variant,p.Gly155Trp,ENST00000264414,NM_003590.4;CUL3,missense_variant,p.Gly89Trp,ENST00000344951,NM_001257197.1;CUL3,missense_variant,p.Gly131Trp,ENST00000409777,;CUL3,missense_variant,p.Gly131Trp,ENST00000409096,NM_001257198.1;CUL3,missense_variant,p.Gly176Trp,ENST00000436172,;CUL3,non_coding_transcript_exon_variant,,ENST00000432260,;CUL3,non_coding_transcript_exon_variant,,ENST00000541548,;CUL3,upstream_gene_variant,,ENST00000484081,;							MODERATE	463/2307	G155W	CUL3_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000264414		CCDS2462.1			1	
MYH15	0	LGGM	GRCh37	3	108189556	108189556	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	3	.	.	ENST00000273353.3:c.1432G>T	p.Glu478Ter	p.E478*	ENST00000273353	NM_014981.1	478	Gaa/Taa	0	1	1	UPI0000253B6F	0	NA	ENST00000273353		ENSG00000144821	31073		25	0		HGNC	p.E478X		MYH15		SNV							ENST00000273353	protein_coding	getma.org/?cm=var&var=hg19,3,108189556,C,A&fts=all		Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF263,SMART_domains:SM00242,Superfamily_domains:SSF52540		E/*		A	NA	1489/7074		NA		H9XFA0_HUMAN			YES	MYH15,stop_gained,p.Glu478Ter,ENST00000273353,NM_014981.1;							HIGH	1432/5841	E478*	MYH15_HUMAN			Transcript			.	ENSP00000273353		CCDS43127.1			1	
PLVAP	0	LGGM	GRCh37	19	17487808	17487808	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	3	.	.	ENST00000252590.4:c.290C>T	p.Ala97Val	p.A97V	ENST00000252590	NM_031310.1	97	gCc/gTc	0	1	1	UPI000003ED36	0	NA	ENST00000252590		ENSG00000130300	13635		19	0.695		HGNC	p.A97V	COSM3530353	PLVAP		SNV						1	ENST00000252590	protein_coding	getma.org/?cm=var&var=hg19,19,17487808,G,A&fts=all		Pfam_domain:PF06637,hmmpanther:PTHR21687,hmmpanther:PTHR21687:SF2		A/V		A	neutral	352/2305		getma.org/?cm=msa&ty=f&p=PLVAP_HUMAN&rb=1&re=442&var=A97V	deleterious(0.02)				YES	PLVAP,missense_variant,p.Ala97Val,ENST00000252590,NM_031310.1;PLVAP,missense_variant,p.Ala97Val,ENST00000599426,;					1		MODERATE	290/1329	A97V	PLVAP_HUMAN			Transcript		benign(0.446)	.	ENSP00000252590		CCDS32952.1			1	
FGF17	0	LGGM	GRCh37	8	21900684	21900684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	11	3	.	.	ENST00000359441.3:c.64C>A	p.Gln22Lys	p.Q22K	ENST00000359441	NM_003867.2	22	Caa/Aaa	0	1	1	UPI000012A71F	0	NA	ENST00000359441		ENSG00000158815	3673		14	1.845		HGNC	p.Q22K		FGF17		SNV			1				ENST00000518533	protein_coding	getma.org/?cm=var&var=hg19,8,21900684,C,A&fts=all		Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11486:SF71,hmmpanther:PTHR11486		Q/K		A	low	567/1714		getma.org/?cm=msa&ty=f&p=FGF17_HUMAN&rb=1&re=52&var=Q22K	tolerated(0.16)				YES	FGF17,missense_variant,p.Gln22Lys,ENST00000359441,NM_003867.2;FGF17,missense_variant,p.Gln22Lys,ENST00000518533,;FGF17,upstream_gene_variant,,ENST00000521709,;FGF17,upstream_gene_variant,,ENST00000524314,;							MODERATE	64/651	Q22K	FGF17_HUMAN			Transcript		unknown(0)	.	ENSP00000352414		CCDS6019.1			1	
RHOBTB1	0	LGGM	GRCh37	10	62648515	62648515	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	42	3	.	.	ENST00000337910.5:c.911C>A	p.Pro304Gln	p.P304Q	ENST00000337910	NM_001242359.1	304	cCa/cAa	0	1	1	UPI000000D9B7	0	NA	ENST00000337910		ENSG00000072422	18738		45	1.21		HGNC	p.P304Q		RHOBTB1		SNV							ENST00000337910	protein_coding	getma.org/?cm=var&var=hg19,10,62648515,G,T&fts=all		Gene3D:3.30.710.10,PROSITE_profiles:PS50097,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF120,SMART_domains:SM00225		P/Q		T	low	1249/4473		getma.org/?cm=msa&ty=f&p=RHBT1_HUMAN&rb=258&re=330&var=P304Q	tolerated(0.53)	Q567T3_HUMAN			YES	RHOBTB1,missense_variant,p.Pro304Gln,ENST00000337910,NM_001242359.1,NM_014836.4;RHOBTB1,missense_variant,p.Pro304Gln,ENST00000357917,;RHOBTB1,upstream_gene_variant,,ENST00000483488,;							MODERATE	911/2091	P304Q	RHBT1_HUMAN			Transcript		benign(0.016)	.	ENSP00000338671		CCDS7261.1			1	
DESI2	0	LGGM	GRCh37	1	244817326	244817326	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	3	.	.	ENST00000302550.11:c.42+669A>G		*14*	ENST00000302550	NM_016076.3			0	1	1	UPI0000038D6C	0		ENST00000302550		ENSG00000121644	24264		15			HGNC	p.Q31R		DESI2		SNV							ENST00000418162	protein_coding							G		-/4208							YES	DESI2,missense_variant,p.Gln31Arg,ENST00000418162,;DESI2,intron_variant,,ENST00000302550,NM_016076.3;DESI2,intron_variant,,ENST00000263831,;DESI2,splice_region_variant,,ENST00000484738,;							MODIFIER	-/585		DESI2_HUMAN			Transcript			.	ENSP00000306528		CCDS1626.1			1	
TRIM42	0	LGGM	GRCh37	3	140401547	140401547	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	37	3	.	.	ENST00000286349.3:c.585C>A	p.His195Gln	p.H195Q	ENST00000286349	NM_152616.4	195	caC/caA	0	1	1	UPI00001AEAE0	0	NA	ENST00000286349		ENSG00000155890	19014		40	1.445		HGNC	p.H195Q	COSM1725931	TRIM42		SNV						1	ENST00000286349	protein_coding	getma.org/?cm=var&var=hg19,3,140401547,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF273,Superfamily_domains:SSF57850		H/Q		A	low	776/2539		getma.org/?cm=msa&ty=f&p=TRI42_HUMAN&rb=100&re=284&var=H195Q	deleterious(0)				YES	TRIM42,missense_variant,p.His195Gln,ENST00000286349,NM_152616.4;					1		MODERATE	585/2172	H195Q	TRI42_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000286349		CCDS3113.1			1	
SLC12A6	0	LGGM	GRCh37	15	34628741	34628741	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	3	.	.	ENST00000354181.3:c.141C>A	p.Ser47=	p.S47=	ENST00000354181		47	tcC/tcA	0	1	1	UPI0000135427	0		ENST00000354181		ENSG00000140199	10914		19			HGNC	p.S38S		SLC12A6		SNV			1				ENST00000558589	protein_coding			Low_complexity_(Seg):seg		S		T		634/4568				H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	SLC12A6,synonymous_variant,p.=,ENST00000354181,;SLC12A6,synonymous_variant,p.=,ENST00000560611,NM_133647.1;SLC12A6,synonymous_variant,p.=,ENST00000397707,NM_001042497.1;SLC12A6,synonymous_variant,p.=,ENST00000558589,NM_001042496.1;SLC12A6,synonymous_variant,p.=,ENST00000558667,;SLC12A6,synonymous_variant,p.=,ENST00000559236,;SLC12A6,synonymous_variant,p.=,ENST00000561120,;SLC12A6,5_prime_UTR_variant,,ENST00000458406,NM_001042494.1;SLC12A6,5_prime_UTR_variant,,ENST00000397702,NM_001042495.1;SLC12A6,5_prime_UTR_variant,,ENST00000559484,;SLC12A6,synonymous_variant,p.=,ENST00000561080,;SLC12A6,synonymous_variant,p.=,ENST00000559664,;SLC12A6,5_prime_UTR_variant,,ENST00000559523,;							LOW	141/3453		S12A6_HUMAN			Transcript			.	ENSP00000346112		CCDS58352.1			1	
AHCTF1	0	LGGM	GRCh37	1	247024228	247024228	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	44	3	.	.	ENST00000326225.3:c.4132A>C	p.Thr1378Pro	p.T1378P	ENST00000326225	NM_015446.4	1378	Act/Cct	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		47	1.845		HGNC	p.T1404P		AHCTF1		SNV							ENST00000366508	protein_coding	getma.org/?cm=var&var=hg19,1,247024228,T,G&fts=all		hmmpanther:PTHR21583		T/P		G	low	4229/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=1052&re=2264&var=T1369P	tolerated(0.14)	C9J5C5_HUMAN			YES	AHCTF1,missense_variant,p.Thr1404Pro,ENST00000366508,;AHCTF1,missense_variant,p.Thr1378Pro,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Thr1369Pro,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;							MODERATE	4132/6828	T1369P	ELYS_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000355465		CCDS1629.2			1	
P4HA3	0	LGGM	GRCh37	11	74015445	74015445	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	3	.	.	ENST00000331597.4:c.213G>T	p.Lys71Asn	p.K71N	ENST00000331597	NM_182904.3	71	aaG/aaT	0	1	1	UPI00000423C1	0	NA	ENST00000331597		ENSG00000149380	30135		48	1.245		HGNC	p.K71N		P4HA3		SNV							ENST00000331597	protein_coding	getma.org/?cm=var&var=hg19,11,74015445,C,A&fts=all		hmmpanther:PTHR10869,hmmpanther:PTHR10869:SF14,Pfam_domain:PF08336		K/N		A	low	259/2274		getma.org/?cm=msa&ty=f&p=P4HA3_HUMAN&rb=32&re=162&var=K71N	deleterious(0.03)	H0YCC3_HUMAN			YES	P4HA3,missense_variant,p.Lys71Asn,ENST00000331597,NM_182904.3,NM_001288748.1;P4HA3,missense_variant,p.Lys71Asn,ENST00000427714,;P4HA3,missense_variant,p.Lys71Asn,ENST00000524388,;P4HA3,missense_variant,p.Lys71Asn,ENST00000525968,;							MODERATE	213/1635	K71N	P4HA3_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000332170		CCDS8230.1			1	
TMEM203	0	LGGM	GRCh37	9	140099594	140099594	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	3	.	.	ENST00000343666.5:c.273G>T	p.Leu91=	p.L91=	ENST00000343666	NM_053045.1	91	ctG/ctT	0	1	1	UPI000006E3D0	0		ENST00000343666		ENSG00000187713	28217		22			HGNC	p.L91L		TMEM203		SNV							ENST00000537254	protein_coding			hmmpanther:PTHR13568,Transmembrane_helices:TMhelix		L		A		497/1557							YES	TMEM203,synonymous_variant,p.=,ENST00000343666,NM_053045.1;TMEM203,synonymous_variant,p.=,ENST00000537254,;TPRN,upstream_gene_variant,,ENST00000409012,NM_001128228.2;TPRN,upstream_gene_variant,,ENST00000321773,;NDOR1,upstream_gene_variant,,ENST00000371521,NM_001144026.1;NDOR1,upstream_gene_variant,,ENST00000344894,NM_001144028.1,NM_014434.2;NDOR1,upstream_gene_variant,,ENST00000427047,NM_001144027.1;NDOR1,upstream_gene_variant,,ENST00000458322,;TPRN,upstream_gene_variant,,ENST00000541945,;							LOW	273/411		TM203_HUMAN			Transcript			.	ENSP00000375053		CCDS35185.1			1	
LRRC45	0	LGGM	GRCh37	17	79985579	79985579	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	4	.	.	ENST00000306688.3:c.863A>G	p.Gln288Arg	p.Q288R	ENST00000306688	NM_144999.2	288	cAg/cGg	0	1	1	UPI000006EF33	0	NA	ENST00000306688		ENSG00000169683	28302		14	0.55		HGNC	p.Q288R		LRRC45		SNV							ENST00000306688	protein_coding	getma.org/?cm=var&var=hg19,17,79985579,A,G&fts=all		hmmpanther:PTHR23170,hmmpanther:PTHR23170:SF3		Q/R		G	neutral	1205/2701		getma.org/?cm=msa&ty=f&p=LRC45_HUMAN&rb=261&re=299&var=Q288R	tolerated(0.09)				YES	LRRC45,missense_variant,p.Gln288Arg,ENST00000306688,NM_144999.2;RAC3,upstream_gene_variant,,ENST00000306897,NM_005052.2;RAC3,upstream_gene_variant,,ENST00000580965,;STRA13,upstream_gene_variant,,ENST00000392359,NM_001271006.1;STRA13,upstream_gene_variant,,ENST00000584347,;STRA13,upstream_gene_variant,,ENST00000306704,NM_144998.3;LRRC45,downstream_gene_variant,,ENST00000577638,;RAC3,upstream_gene_variant,,ENST00000584341,;STRA13,upstream_gene_variant,,ENST00000584600,;STRA13,upstream_gene_variant,,ENST00000580435,NM_001271007.1;STRA13,upstream_gene_variant,,ENST00000579520,;STRA13,upstream_gene_variant,,ENST00000583767,;STRA13,upstream_gene_variant,,ENST00000584514,;STRA13,upstream_gene_variant,,ENST00000577379,;LRRC45,downstream_gene_variant,,ENST00000583383,;STRA13,upstream_gene_variant,,ENST00000580090,;LRRC45,missense_variant,p.Gln32Arg,ENST00000581227,;LRRC45,non_coding_transcript_exon_variant,,ENST00000583302,;STRA13,upstream_gene_variant,,ENST00000585091,;LRRC45,upstream_gene_variant,,ENST00000582083,;							MODERATE	863/2013	Q288R	LRC45_HUMAN			Transcript		benign(0.035)	.	ENSP00000306760		CCDS11797.1			1	
EXOSC3	0	LGGM	GRCh37	9	37780805	37780805	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	4	.	.	ENST00000327304.5:c.699G>T	p.Met233Ile	p.M233I	ENST00000327304	NM_016042.3	233	atG/atT	0	1	1	UPI0000134936	0	getma.org/pdb.php?prot=EXOS3_HUMAN&from=18&to=273&var=M233I	ENST00000327304		ENSG00000107371	17944		20	1.69		HGNC	p.M233I		EXOSC3		SNV			1				ENST00000327304	protein_coding	getma.org/?cm=var&var=hg19,9,37780805,C,A&fts=all		Superfamily_domains:SSF54791,hmmpanther:PTHR21321,hmmpanther:PTHR21321:SF3		M/I		A	low	712/1806		getma.org/?cm=msa&ty=f&p=EXOS3_HUMAN&rb=18&re=273&var=M233I	deleterious(0.02)				YES	EXOSC3,missense_variant,p.Met233Ile,ENST00000327304,NM_016042.3;EXOSC3,3_prime_UTR_variant,,ENST00000396521,;TRMT10B,downstream_gene_variant,,ENST00000297994,NM_144964.2;TRMT10B,downstream_gene_variant,,ENST00000377754,NM_001286951.1;TRMT10B,downstream_gene_variant,,ENST00000377753,NM_001286953.1,NM_001286952.1;TRMT10B,downstream_gene_variant,,ENST00000537911,NM_001286950.1;EXOSC3,non_coding_transcript_exon_variant,,ENST00000490516,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000489414,;EXOSC3,non_coding_transcript_exon_variant,,ENST00000482614,;EXOSC3,3_prime_UTR_variant,,ENST00000465229,;RP11-613M10.9,intron_variant,,ENST00000540557,;TRMT10B,downstream_gene_variant,,ENST00000488673,;TRMT10B,downstream_gene_variant,,ENST00000537016,;EXOSC3,downstream_gene_variant,,ENST00000465860,;EXOSC3,downstream_gene_variant,,ENST00000496910,;							MODERATE	699/828	M233I	EXOS3_HUMAN			Transcript		benign(0.209)	.	ENSP00000323046		CCDS35016.1			1	
GAS8	0	LGGM	GRCh37	16	90103727	90103727	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	4	.	.	ENST00000268699.4:c.844C>A	p.Pro282Thr	p.P282T	ENST00000268699	NM_001481.2	282	Cct/Act	0	1	1	UPI0000070A4C	0	NA	ENST00000268699		ENSG00000141013	4166		19	3.195		HGNC	p.P282T		GAS8		SNV							ENST00000268699	protein_coding	getma.org/?cm=var&var=hg19,16,90103727,C,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF13851,hmmpanther:PTHR31543		P/T		A	medium	966/3185		getma.org/?cm=msa&ty=f&p=GAS8_HUMAN&rb=220&re=420&var=P282T	deleterious(0.03)	H3BUA7_HUMAN,H3BP65_HUMAN,H3BNL3_HUMAN,G3V1L5_HUMAN			YES	GAS8,missense_variant,p.Pro282Thr,ENST00000268699,NM_001481.2,NM_001286205.1;GAS8,missense_variant,p.Pro257Thr,ENST00000536122,NM_001286209.1;GAS8,downstream_gene_variant,,ENST00000563936,;GAS8,downstream_gene_variant,,ENST00000561675,;GAS8,downstream_gene_variant,,ENST00000564392,;GAS8,non_coding_transcript_exon_variant,,ENST00000540721,;GAS8,non_coding_transcript_exon_variant,,ENST00000564802,;URAHP,downstream_gene_variant,,ENST00000409873,;GAS8,downstream_gene_variant,,ENST00000568705,;GAS8,3_prime_UTR_variant,,ENST00000566266,NM_001286208.1;GAS8,non_coding_transcript_exon_variant,,ENST00000569558,;GAS8,non_coding_transcript_exon_variant,,ENST00000569399,;GAS8,downstream_gene_variant,,ENST00000565062,;GAS8,downstream_gene_variant,,ENST00000537797,;GAS8,upstream_gene_variant,,ENST00000564789,;GAS8,downstream_gene_variant,,ENST00000565000,;							MODERATE	844/1437	P282T	GAS8_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000268699		CCDS10992.1			1	
ERCC2	0	LGGM	GRCh37	19	45860619	45860619	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	2	4	.	.	ENST00000391945.4:c.1388C>T	p.Pro463Leu	p.P463L	ENST00000391945	NM_000400.3	463	cCg/cTg	0	1	1	UPI0000139012	0	NA	ENST00000391945		ENSG00000104884	3434		6	3.73		HGNC	p.P463L		ERCC2		SNV			1				ENST00000391945	protein_coding	getma.org/?cm=var&var=hg19,19,45860619,G,A&fts=all		hmmpanther:PTHR11472:SF1,hmmpanther:PTHR11472,TIGRFAM_domain:TIGR00604,Superfamily_domains:SSF52540		P/L		A	high	1466/4153		getma.org/?cm=msa&ty=f&p=ERCC2_HUMAN&rb=414&re=523&var=P463L	deleterious(0.01)	K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,missense_variant,p.Pro463Leu,ENST00000391945,NM_000400.3;ERCC2,missense_variant,p.Pro439Leu,ENST00000391941,;ERCC2,missense_variant,p.Pro385Leu,ENST00000391944,;ERCC2,downstream_gene_variant,,ENST00000485403,NM_001130867.1;ERCC2,downstream_gene_variant,,ENST00000391940,;ERCC2,missense_variant,p.Pro171Leu,ENST00000587376,;ERCC2,non_coding_transcript_exon_variant,,ENST00000588652,;ERCC2,non_coding_transcript_exon_variant,,ENST00000391942,;							MODERATE	1388/2283	P463L	ERCC2_HUMAN			Transcript		benign(0.334)	.	ENSP00000375809		CCDS33049.1			1	
RSPH3	0	LGGM	GRCh37	6	159420526	159420526	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	4	.	.	ENST00000252655.1:c.483C>T	p.Thr161=	p.T161=	ENST00000252655	NM_031924.4	161	acC/acT	0	1	1	UPI000013CD78	0		ENST00000252655		ENSG00000130363	21054		17			HGNC	p.T161T		RSPH3		SNV			1				ENST00000252655	protein_coding			hmmpanther:PTHR21648:SF0,hmmpanther:PTHR21648		T		A		673/2175							YES	RSPH3,synonymous_variant,p.=,ENST00000367069,;RSPH3,synonymous_variant,p.=,ENST00000252655,NM_031924.4;RSPH3,synonymous_variant,p.=,ENST00000449822,;RSPH3,synonymous_variant,p.=,ENST00000297262,;RP1-111C20.4,intron_variant,,ENST00000607391,;RP1-111C20.4,upstream_gene_variant,,ENST00000607796,;RP1-111C20.4,upstream_gene_variant,,ENST00000606470,;							LOW	483/1683		RSPH3_HUMAN			Transcript			.	ENSP00000252655		CCDS5260.1			1	
LMO4	0	LGGM	GRCh37	1	87797865	87797865	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	4	.	.	ENST00000370544.5:c.167A>C	p.Gln56Pro	p.Q56P	ENST00000370544	NM_006769.3	56	cAg/cCg	0	1		UPI0000004145	0	getma.org/pdb.php?prot=LMO4_HUMAN&from=23&to=81&var=Q56P	ENST00000370542		ENSG00000143013	6644		18	0.56		HGNC	p.Q56P		LMO4		SNV							ENST00000370544	protein_coding	getma.org/?cm=var&var=hg19,1,87797865,A,C&fts=all		Gene3D:2.10.110.10,Pfam_domain:PF00412,PROSITE_patterns:PS00478,PROSITE_profiles:PS50023,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF93,SMART_domains:SM00132,Superfamily_domains:SSF57716		Q/P		C	neutral	317/1260		getma.org/?cm=msa&ty=f&p=LMO4_HUMAN&rb=23&re=81&var=Q56P	tolerated(0.16)					LMO4,missense_variant,p.Gln56Pro,ENST00000370544,NM_006769.3;LMO4,missense_variant,p.Gln56Pro,ENST00000370542,;LMO4,non_coding_transcript_exon_variant,,ENST00000489303,;LMO4,non_coding_transcript_exon_variant,,ENST00000495705,;							MODERATE	167/498	Q56P	LMO4_HUMAN			Transcript		benign(0.03)	.	ENSP00000359573		CCDS713.1			1	
RAI2	0	LGGM	GRCh37	X	17819967	17819967	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	4	.	.	ENST00000545871.1:c.164C>A	p.Ala55Asp	p.A55D	ENST00000545871	NM_001172739.1	55	gCc/gAc	0	1		UPI000013CE19	0	NA	ENST00000331511		ENSG00000131831	9835		16	0.805		HGNC	p.A55D		RAI2		SNV							ENST00000451717	protein_coding	getma.org/?cm=var&var=hg19,X,17819967,G,T&fts=all		hmmpanther:PTHR23186,hmmpanther:PTHR23186:SF3		A/D		T	low	521/2317		getma.org/?cm=msa&ty=f&p=RAI2_HUMAN&rb=1&re=200&var=A55D	deleterious(0)					RAI2,missense_variant,p.Ala55Asp,ENST00000545871,NM_001172739.1,NM_001172743.1;RAI2,missense_variant,p.Ala55Asp,ENST00000360011,;RAI2,missense_variant,p.Ala55Asp,ENST00000331511,;RAI2,missense_variant,p.Ala55Asp,ENST00000451717,NM_021785.4,NM_001172732.1;RAI2,intron_variant,,ENST00000415486,;RAI2,intron_variant,,ENST00000509491,;							MODERATE	164/1593	A55D	RAI2_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000333456		CCDS14183.1			1	
XPO6	0	LGGM	GRCh37	16	28117488	28117488	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	4	.	.	ENST00000304658.5:c.2660G>A	p.Arg887Gln	p.R887Q	ENST00000304658	NM_015171.3	887	cGg/cAg	0	1	1	UPI000006F228	0	NA	ENST00000304658		ENSG00000169180	19733		19	0.895		HGNC	p.R873Q	rs375817097	XPO6	6.06E-05	SNV	T:0						ENST00000565698	protein_coding	getma.org/?cm=var&var=hg19,16,28117488,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR21452,Superfamily_domains:SSF48371		R/Q	T:0.0001	T	low	3161/4422	3.00E-05	getma.org/?cm=msa&ty=f&p=XPO6_HUMAN&rb=691&re=890&var=R887Q	deleterious(0.04)	H3BUP8_HUMAN,H3BR41_HUMAN,D3DWF9_HUMAN			YES	XPO6,missense_variant,p.Arg887Gln,ENST00000304658,NM_015171.3;XPO6,missense_variant,p.Arg873Gln,ENST00000565698,NM_001270940.1;XPO6,missense_variant,p.Arg117Gln,ENST00000573275,;XPO6,upstream_gene_variant,,ENST00000568065,;XPO6,upstream_gene_variant,,ENST00000569315,;XPO6,downstream_gene_variant,,ENST00000569216,;XPO6,non_coding_transcript_exon_variant,,ENST00000570007,;XPO6,downstream_gene_variant,,ENST00000564905,;XPO6,upstream_gene_variant,,ENST00000567038,;							MODERATE	2660/3378	R887Q	XPO6_HUMAN			Transcript		benign(0.232)	.	ENSP00000302790	2.48E-05	CCDS42135.1			1	
ADH1B	0	LGGM	GRCh37	4	100242488	100242488	+	start_lost	Translation_Start_Site	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	36	4	.	.	ENST00000305046.8:c.1A>G	p.Met1?	p.M1?	ENST00000305046		1	Atg/Gtg	0	1	1	UPI00001699B5	0	http://getma.org/pdb.php?prot=ADH1B_HUMAN&from=1&to=33&var=M1V	ENST00000305046		ENSG00000196616	250		40	0		HGNC	p.M1V	rs776535921	ADH1B		SNV			1				ENST00000506651	protein_coding	getma.org/?cm=var&var=hg19,4,100242488,T,C&fts=all		hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF376,Gene3D:3.90.180.10		M/V		C	NA	69/4072	1.50E-05	http://getma.org/?cm=msa&ty=f&p=ADH1B_HUMAN&rb=1&re=33&var=M1V	deleterious(0.01)	F5HB16_HUMAN,B7ZB36_HUMAN,A8MYN5_HUMAN			YES	ADH1B,start_lost,p.Met1?,ENST00000305046,;ADH1B,5_prime_UTR_variant,,ENST00000394887,NM_000668.4,NM_001286650.1;ADH1B,non_coding_transcript_exon_variant,,ENST00000504498,;ADH1B,start_lost,p.Met1?,ENST00000506651,;ADH1B,non_coding_transcript_exon_variant,,ENST00000515694,;							HIGH	1/1128	M1V	ADH1B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000306606	8.24E-06	CCDS34033.1			1	
FITM2	0	LGGM	GRCh37	20	42935570	42935570	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	11	4	.	.	ENST00000396825.3:c.484T>C	p.Cys162Arg	p.C162R	ENST00000396825	NM_001080472.1	162	Tgc/Cgc	0	1	1	UPI0000128612	0	NA	ENST00000396825		ENSG00000197296	16135		15	2.485		HGNC	p.C162R		FITM2		SNV							ENST00000396825	protein_coding	getma.org/?cm=var&var=hg19,20,42935570,A,G&fts=all		Pfam_domain:PF10261,hmmpanther:PTHR23129,hmmpanther:PTHR23129:SF1,Transmembrane_helices:TMhelix		C/R		G	medium	505/4597		getma.org/?cm=msa&ty=f&p=FITM2_HUMAN&rb=43&re=234&var=C162R	deleterious(0)				YES	FITM2,missense_variant,p.Cys162Arg,ENST00000396825,NM_001080472.1;							MODERATE	484/789	C162R	FITM2_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000380037		CCDS33473.1			1	
SERPINF2	0	LGGM	GRCh37	17	1650661	1650661	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	4	.	.	ENST00000324015.3:c.570C>G	p.Pro190=	p.P190=	ENST00000324015	NM_000934.3	190	ccC/ccG	0	1	1	UPI000012500F	0		ENST00000324015		ENSG00000167711	9075		20			HGNC	p.P190P		SERPINF2		SNV			1				ENST00000382061	protein_coding			Gene3D:3.30.497.10,Pfam_domain:PF00079,hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF20,SMART_domains:SM00093,Superfamily_domains:SSF56574		P		G		647/2284				C9JMH6_HUMAN			YES	SERPINF2,synonymous_variant,p.=,ENST00000324015,NM_000934.3;SERPINF2,synonymous_variant,p.=,ENST00000382061,NM_001165920.1;SERPINF2,synonymous_variant,p.=,ENST00000450523,NM_001165921.1;SERPINF2,synonymous_variant,p.=,ENST00000453066,;SERPINF2,intron_variant,,ENST00000453723,;							LOW	570/1476		A2AP_HUMAN			Transcript			.	ENSP00000321853		CCDS11011.1			1	
NT5DC2	0	LGGM	GRCh37	3	52559310	52559310	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	4	4	.	.	ENST00000422318.2:c.1121G>T	p.Gly374Val	p.G374V	ENST00000422318	NM_001134231.1	374	gGa/gTa	0	1		UPI0000072423	0	getma.org/pdb.php?prot=NT5D2_HUMAN&from=56&to=501&var=G337V	ENST00000307076		ENSG00000168268	25717		8	3.47		HGNC	p.G278V		NT5DC2		SNV							ENST00000307092	protein_coding	getma.org/?cm=var&var=hg19,3,52559310,C,A&fts=all		hmmpanther:PTHR12103,hmmpanther:PTHR12103:SF14,Pfam_domain:PF05761,TIGRFAM_domain:TIGR02244,PIRSF_domain:PIRSF017434,Superfamily_domains:SSF56784		G/V		A	medium	1411/2047		getma.org/?cm=msa&ty=f&p=NT5D2_HUMAN&rb=56&re=501&var=G337V	deleterious(0.01)					NT5DC2,missense_variant,p.Gly337Val,ENST00000307076,NM_022908.2;NT5DC2,missense_variant,p.Gly374Val,ENST00000422318,NM_001134231.1;NT5DC2,missense_variant,p.Gly278Val,ENST00000307092,;NT5DC2,missense_variant,p.Gly349Val,ENST00000459839,;NT5DC2,missense_variant,p.Gly51Val,ENST00000463947,;STAB1,downstream_gene_variant,,ENST00000321725,NM_015136.2;NT5DC2,downstream_gene_variant,,ENST00000489316,;STAB1,downstream_gene_variant,,ENST00000469989,;NT5DC2,downstream_gene_variant,,ENST00000471522,;NT5DC2,downstream_gene_variant,,ENST00000490681,;NT5DC2,downstream_gene_variant,,ENST00000487779,;NT5DC2,splice_region_variant,,ENST00000492555,;NT5DC2,splice_region_variant,,ENST00000466112,;NT5DC2,splice_region_variant,,ENST00000478091,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000479024,;NT5DC2,non_coding_transcript_exon_variant,,ENST00000462261,;STAB1,downstream_gene_variant,,ENST00000481626,;STAB1,downstream_gene_variant,,ENST00000462741,;STAB1,downstream_gene_variant,,ENST00000462681,;NT5DC2,upstream_gene_variant,,ENST00000469616,;NT5DC2,downstream_gene_variant,,ENST00000486792,;							MODERATE	1010/1563	G337V	NT5D2_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000302468		CCDS2858.1			1	
METTL8	0	LGGM	GRCh37	2	172182596	172182596	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	66	4	.	.	ENST00000375258.4:c.923G>T	p.Arg308Leu	p.R308L	ENST00000375258	NM_024770.3	308	cGa/cTa	0	1		UPI00001AF3AB	0	NA	ENST00000392604		ENSG00000123600	25856		70	4.095		HGNC	p.R308L		METTL8		SNV							ENST00000375258	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,2,172182596,C,A&fts=all						A	high	-/1697		getma.org/?cm=msa&ty=f&p=E7ETE0_HUMAN&rb=306&re=378&var=R308L		C9JE69_HUMAN,C9J6U8_HUMAN,C9J3F1_HUMAN				METTL8,missense_variant,p.Arg308Leu,ENST00000375258,NM_024770.3;METTL8,missense_variant,p.Arg144Leu,ENST00000438609,;METTL8,downstream_gene_variant,,ENST00000392599,;METTL8,non_coding_transcript_exon_variant,,ENST00000463392,;METTL8,non_coding_transcript_exon_variant,,ENST00000460188,;METTL8,intron_variant,,ENST00000477130,;METTL8,non_coding_transcript_exon_variant,,ENST00000483284,;METTL8,non_coding_transcript_exon_variant,,ENST00000464491,;METTL8,non_coding_transcript_exon_variant,,ENST00000470773,;METTL8,intron_variant,,ENST00000447486,;METTL8,intron_variant,,ENST00000392604,;							MODIFIER	-/876	R308L	METL8_HUMAN			Transcript			.	ENSP00000376382					1	
HOMEZ	0	LGGM	GRCh37	14	23745007	23745007	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	68	4	.	.	ENST00000357460.5:c.1430G>T	p.Arg477Leu	p.R477L	ENST00000357460	NM_020834.2	477	cGg/cTg	0	1	1	UPI0000EE4A53	0	getma.org/pdb.php?prot=HOMEZ_HUMAN&from=453&to=509&var=R477L	ENST00000357460		ENSG00000215271	20164		72	0.895		HGNC	p.R479L		HOMEZ		SNV							ENST00000561013	protein_coding	getma.org/?cm=var&var=hg19,14,23745007,C,A&fts=all		Pfam_domain:PF11569,hmmpanther:PTHR15467		R/L		A	low	1595/4936		getma.org/?cm=msa&ty=f&p=HOMEZ_HUMAN&rb=453&re=509&var=R477L	tolerated(0.08)	B4DLB7_HUMAN			YES	HOMEZ,missense_variant,p.Arg477Leu,ENST00000357460,NM_020834.2;HOMEZ,missense_variant,p.Arg479Leu,ENST00000561013,;HOMEZ,missense_variant,p.Arg479Leu,ENST00000431326,;C14orf164,downstream_gene_variant,,ENST00000399910,;C14orf164,downstream_gene_variant,,ENST00000399905,;C14orf164,downstream_gene_variant,,ENST00000430154,;HOMEZ,downstream_gene_variant,,ENST00000606731,;HOMEZ,downstream_gene_variant,,ENST00000606006,;C14orf164,downstream_gene_variant,,ENST00000492621,;C14orf164,downstream_gene_variant,,ENST00000492355,;C14orf164,downstream_gene_variant,,ENST00000470818,;							MODERATE	1430/1653	R477L	HOMEZ_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000350049		CCDS45085.1			1	
SUPT6H	0	LGGM	GRCh37	17	27016465	27016465	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	56	4	.	.	ENST00000314616.6:c.3228C>A	p.Tyr1076Ter	p.Y1076*	ENST00000314616	NM_003170.3	1076	taC/taA	0	1	1	UPI000015FFA7	0	NA	ENST00000314616		ENSG00000109111	11470		60	0		HGNC	p.Y1076X		SUPT6H		SNV							ENST00000314616	protein_coding	getma.org/?cm=var&var=hg19,17,27016465,C,A&fts=all		Superfamily_domains:SSF47781,PIRSF_domain:PIRSF036947,Gene3D:3bzcA04,Pfam_domain:PF14878,hmmpanther:PTHR10145:SF6,hmmpanther:PTHR10145		Y/*		A	NA	3511/6518		NA		J3QS64_HUMAN			YES	SUPT6H,stop_gained,p.Tyr1076Ter,ENST00000314616,NM_003170.3;SUPT6H,stop_gained,p.Tyr1076Ter,ENST00000347486,;SUPT6H,non_coding_transcript_exon_variant,,ENST00000583972,;SUPT6H,downstream_gene_variant,,ENST00000581908,;SUPT6H,downstream_gene_variant,,ENST00000585230,;							HIGH	3228/5181	Y1076*	SPT6H_HUMAN			Transcript			.	ENSP00000319104		CCDS32596.1			1	
OR2T6	0	LGGM	GRCh37	1	248551093	248551093	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	74	4	.	.	ENST00000355728.2:c.184C>A	p.Leu62Ile	p.L62I	ENST00000355728	NM_001005471.1	62	Ctc/Atc	0	1	1	UPI0000199147	0	getma.org/pdb.php?prot=OR2T6_HUMAN&from=1&to=138&var=L62I	ENST00000355728		ENSG00000198104	15018		78	3.26		HGNC	p.L62I		OR2T6		SNV							ENST00000355728	protein_coding	getma.org/?cm=var&var=hg19,1,248551093,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF57,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/I		A	medium	184/927		getma.org/?cm=msa&ty=f&p=OR2T6_HUMAN&rb=1&re=138&var=L62I	deleterious(0.01)				YES	OR2T6,missense_variant,p.Leu62Ile,ENST00000355728,NM_001005471.1;							MODERATE	184/927	L62I	OR2T6_HUMAN			Transcript		probably_damaging(0.962)	.	ENSP00000347965		CCDS31114.1			1	
FOXA1	0	LGGM	GRCh37	14	38061900	38061900	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	4	.	.	ENST00000250448.2:c.89C>G	p.Pro30Arg	p.P30R	ENST00000250448	NM_004496.3	30	cCg/cGg	0	1	1	UPI000013CCBA	0	NA	ENST00000250448		ENSG00000129514	5021		19	1.1		HGNC	p.P30R		FOXA1		SNV							ENST00000250448	protein_coding	getma.org/?cm=var&var=hg19,14,38061900,G,C&fts=all		Pfam_domain:PF08430,hmmpanther:PTHR11829,hmmpanther:PTHR11829:SF132		P/R		C	low	151/2862		getma.org/?cm=msa&ty=f&p=FOXA1_HUMAN&rb=17&re=169&var=P30R	deleterious(0.02)	B7ZAP5_HUMAN			YES	FOXA1,missense_variant,p.Pro30Arg,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,;							MODERATE	89/1419	P30R	FOXA1_HUMAN			Transcript		possibly_damaging(0.639)	.	ENSP00000250448		CCDS9665.1			1	
BOC	0	LGGM	GRCh37	3	113003232	113003232	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	39	4	.	.	ENST00000495514.1:c.2704C>A	p.Pro902Thr	p.P902T	ENST00000495514		902	Ccg/Acg	0	1		UPI0000072E0E	0	NA	ENST00000355385		ENSG00000144857	17173		43	0.69		HGNC	p.P902T		BOC		SNV							ENST00000495514	protein_coding	getma.org/?cm=var&var=hg19,3,113003232,C,A&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF11		P/T		A	neutral	3043/4278		getma.org/?cm=msa&ty=f&p=BOC_HUMAN&rb=803&re=1002&var=P902T	deleterious(0.01)	C9J9M5_HUMAN,C9J7V2_HUMAN,C9J2L7_HUMAN				BOC,missense_variant,p.Pro902Thr,ENST00000495514,;BOC,missense_variant,p.Pro902Thr,ENST00000355385,NM_033254.2;BOC,missense_variant,p.Pro903Thr,ENST00000273395,;WDR52,downstream_gene_variant,,ENST00000393845,NM_001164496.1;BOC,upstream_gene_variant,,ENST00000473008,;BOC,non_coding_transcript_exon_variant,,ENST00000466059,;BOC,non_coding_transcript_exon_variant,,ENST00000479182,;WDR52,downstream_gene_variant,,ENST00000489244,;BOC,downstream_gene_variant,,ENST00000463971,;BOC,upstream_gene_variant,,ENST00000488486,;							MODERATE	2704/3345	P902T	BOC_HUMAN			Transcript		benign(0.039)	.	ENSP00000347546		CCDS2971.1			1	
CTNNB1	0	LGGM	GRCh37	3	41266112	41266112	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	25	4	.	.	ENST00000349496.5:c.109T>C	p.Ser37Pro	p.S37P	ENST00000349496	NM_001904.3	37	Tct/Cct	0	1	1	UPI000012862F	0	getma.org/pdb.php?prot=CTNB1_HUMAN&from=1&to=200&var=S37P	ENST00000349496		ENSG00000168036	2514		29	2.485		HGNC	p.S37P	rs121913228,COSM5687	CTNNB1		SNV			1			0,1	ENST00000450969	protein_coding	getma.org/?cm=var&var=hg19,3,41266112,T,C&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		S/P		C	medium	389/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=1&re=200&var=S37P	deleterious(0.01)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Ser37Pro,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Ser37Pro,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Ser37Pro,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Ser30Pro,ENST00000453024,;CTNNB1,missense_variant,p.Ser37Pro,ENST00000405570,;CTNNB1,missense_variant,p.Ser37Pro,ENST00000450969,;CTNNB1,missense_variant,p.Ser37Pro,ENST00000431914,;CTNNB1,missense_variant,p.Ser37Pro,ENST00000441708,;CTNNB1,missense_variant,p.Ser30Pro,ENST00000426215,;CTNNB1,downstream_gene_variant,,ENST00000433400,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000488914,;					0,1		MODERATE	109/2346	S37P	CTNB1_HUMAN			Transcript		benign(0.417)	.	ENSP00000344456		CCDS2694.1			1	
PPFIA2	0	LGGM	GRCh37	12	81733067	81733067	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	79	5	.	.	ENST00000549396.1:c.2440G>T	p.Ala814Ser	p.A814S	ENST00000549396	NM_003625.3	814	Gcc/Tcc	0	1	1	UPI0000168655	0	NA	ENST00000549396		ENSG00000139220	9246		84	-1.285		HGNC	p.A740S		PPFIA2		SNV							ENST00000407050	protein_coding	getma.org/?cm=var&var=hg19,12,81733067,C,A&fts=all		hmmpanther:PTHR12587:SF6,hmmpanther:PTHR12587		A/S		A	neutral	2601/5363		getma.org/?cm=msa&ty=f&p=LIPA2_HUMAN&rb=672&re=871&var=A814S	tolerated(1)	H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN			YES	PPFIA2,missense_variant,p.Ala814Ser,ENST00000550584,NM_001220473.1;PPFIA2,missense_variant,p.Ala814Ser,ENST00000549396,NM_003625.3,NM_001220476.1,NM_001282536.1;PPFIA2,missense_variant,p.Ala796Ser,ENST00000549325,NM_001220474.1;PPFIA2,missense_variant,p.Ala814Ser,ENST00000548586,;PPFIA2,missense_variant,p.Ala814Ser,ENST00000552948,NM_001220475.1;PPFIA2,missense_variant,p.Ala740Ser,ENST00000407050,NM_001220477.1;PPFIA2,missense_variant,p.Ala661Ser,ENST00000550359,;PPFIA2,missense_variant,p.Ala715Ser,ENST00000443686,NM_001220478.1;PPFIA2,missense_variant,p.Ala796Ser,ENST00000333447,;PPFIA2,missense_variant,p.Ala381Ser,ENST00000541570,NM_001220479.1;PPFIA2,missense_variant,p.Ala31Ser,ENST00000541017,NM_001220480.1;PPFIA2,upstream_gene_variant,,ENST00000551147,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000549917,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,3_prime_UTR_variant,,ENST00000551461,;PPFIA2,non_coding_transcript_exon_variant,,ENST00000549344,;							MODERATE	2440/3774	A814S	LIPA2_HUMAN			Transcript		benign(0.001)	.	ENSP00000450337		CCDS55857.1			1	
ACTN1	0	LGGM	GRCh37	14	69387792	69387792	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	5	.	.	ENST00000394419.4:c.271T>G	p.Ser91Ala	p.S91A	ENST00000394419	NM_001130004.1	91	Tcc/Gcc	0	1		UPI0000043C25	0	getma.org/pdb.php?prot=ACTN1_HUMAN&from=34&to=135&var=S91A	ENST00000193403		ENSG00000072110	163		36	-0.715		HGNC	p.S91A		ACTN1		SNV			1				ENST00000394419	protein_coding	getma.org/?cm=var&var=hg19,14,69387792,A,C&fts=all		Gene3D:1.10.418.10,Pfam_domain:PF00307,PROSITE_profiles:PS50021,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00033,Superfamily_domains:SSF47576		S/A		C	neutral	655/3779		getma.org/?cm=msa&ty=f&p=ACTN1_HUMAN&rb=34&re=135&var=S91A	tolerated(1)	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN				ACTN1,missense_variant,p.Ser91Ala,ENST00000193403,NM_001102.3;ACTN1,missense_variant,p.Ser91Ala,ENST00000394419,NM_001130004.1;ACTN1,missense_variant,p.Ser91Ala,ENST00000438964,NM_001130005.1;ACTN1,missense_variant,p.Ser26Ala,ENST00000376839,;ACTN1,missense_variant,p.Ser91Ala,ENST00000538545,;ACTN1,missense_variant,p.Ser70Ala,ENST00000556433,;ACTN1,missense_variant,p.Ser26Ala,ENST00000555616,;ACTN1,missense_variant,p.Ser26Ala,ENST00000553370,;ACTN1,missense_variant,p.Ser68Ala,ENST00000556571,;ACTN1,missense_variant,p.Ser26Ala,ENST00000553779,;ACTN1,downstream_gene_variant,,ENST00000553659,;ACTN1,non_coding_transcript_exon_variant,,ENST00000554158,;ACTN1,upstream_gene_variant,,ENST00000554508,;							MODERATE	271/2679	S91A	ACTN1_HUMAN			Transcript		benign(0.007)	.	ENSP00000193403		CCDS9792.1			1	
AFAP1L1	0	LGGM	GRCh37	5	148689681	148689681	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	6	5	.	.	ENST00000296721.4:c.910G>T	p.Ala304Ser	p.A304S	ENST00000296721	NM_152406.2	304	Gcc/Tcc	0	1	1	UPI00001C1E2F	0	NA	ENST00000296721		ENSG00000157510	26714		11	2.31		HGNC	p.A304S		AFAP1L1		SNV							ENST00000296721	protein_coding	getma.org/?cm=var&var=hg19,5,148689681,G,T&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR14338,hmmpanther:PTHR14338:SF1,PROSITE_profiles:PS50003		A/S		T	medium	1008/4177		getma.org/?cm=msa&ty=f&p=AF1L1_HUMAN&rb=221&re=316&var=A304S	deleterious(0)				YES	AFAP1L1,missense_variant,p.Ala304Ser,ENST00000296721,NM_152406.2,NM_001146337.1;AFAP1L1,missense_variant,p.Ala304Ser,ENST00000515000,;AFAP1L1,downstream_gene_variant,,ENST00000522492,;AFAP1L1,non_coding_transcript_exon_variant,,ENST00000455574,;							MODERATE	910/2307	A304S	AF1L1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000296721		CCDS34274.1			1	
ATP1A1	0	LGGM	GRCh37	1	116948396	116948396	+	non_coding_transcript_exon_variant	RNA	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	5	.	.	ENST00000369492.4:n.749T>G		*250*	ENST00000369492				0	1		UPI0000124FBB	0		ENST00000295598		ENSG00000163399	799		15		1000	HGNC	p.G39G		ATP1A1		SNV							ENST00000369492	protein_coding							C		-/3654				Q5TC02_HUMAN,Q5TC01_HUMAN				ATP1A1,intron_variant,,ENST00000440951,;ATP1A1,downstream_gene_variant,,ENST00000537345,NM_001160233.1;ATP1A1,downstream_gene_variant,,ENST00000295598,NM_000701.7;ATP1A1,downstream_gene_variant,,ENST00000369496,NM_001160234.1;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369492,;ATP1A1OS,non_coding_transcript_exon_variant,,ENST00000369491,;ATP1A1OS,intron_variant,,ENST00000608511,;ATP1A1OS,intron_variant,,ENST00000493908,;ATP1A1,downstream_gene_variant,,ENST00000479960,;ATP1A1,upstream_gene_variant,,ENST00000495965,;							MODIFIER	-/3072		AT1A1_HUMAN			Transcript			.	ENSP00000295598		CCDS887.1			1	
RND3	0	LGGM	GRCh37	2	151343251	151343251	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	42	5	.	.	ENST00000375734.2:c.195A>C	p.Glu65Asp	p.E65D	ENST00000375734	NM_001254738.1	65	gaA/gaC	0	1		UPI0000003FE9	0	getma.org/pdb.php?prot=RND3_HUMAN&from=25&to=199&var=E65D	ENST00000263895		ENSG00000115963	671		47	1.82		HGNC	p.E65D		RND3		SNV							ENST00000454202	protein_coding	getma.org/?cm=var&var=hg19,2,151343251,T,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00071,Prints_domain:PR00449,PROSITE_profiles:PS51420,hmmpanther:PTHR24072,hmmpanther:PTHR24072:SF24,SMART_domains:SM00173,SMART_domains:SM00174,SMART_domains:SM00175,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00231		E/D		G	low	379/2711		getma.org/?cm=msa&ty=f&p=RND3_HUMAN&rb=25&re=199&var=E65D	deleterious(0.04)	Q6FGN7_HUMAN,Q53RZ3_HUMAN,Q4ZFY0_HUMAN,E9PFH1_HUMAN,B4DSG7_HUMAN				RND3,missense_variant,p.Glu65Asp,ENST00000375734,NM_001254738.1;RND3,missense_variant,p.Glu65Asp,ENST00000263895,NM_005168.4;RND3,missense_variant,p.Glu65Asp,ENST00000439275,;RND3,missense_variant,p.Glu65Asp,ENST00000454202,;RND3,upstream_gene_variant,,ENST00000409557,;RND3,non_coding_transcript_exon_variant,,ENST00000472416,;RND3,non_coding_transcript_exon_variant,,ENST00000497865,;							MODERATE	195/735	E65D	RND3_HUMAN			Transcript		possibly_damaging(0.842)	.	ENSP00000263895		CCDS2190.1			1	
KCNMA1	0	LGGM	GRCh37	10	78761311	78761311	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	38	5	.	.	ENST00000404857.1:c.2092+10414G>T		*698*	ENST00000404857	NM_001161353.1			0	1		UPI00003519E7	0	NA	ENST00000286628		ENSG00000156113	6284		43	0.69		HGNC	p.R681I		KCNMA1		SNV			1				ENST00000457953	protein_coding	getma.org/?cm=var&var=hg19,10,78761311,C,A&fts=all		hmmpanther:PTHR10027,hmmpanther:PTHR10027:SF18		R/I		A	neutral	2120/6096		getma.org/?cm=msa&ty=f&p=KCMA1_HUMAN&rb=635&re=834&var=R707I	tolerated(0.19)	Q5SVK3_HUMAN				KCNMA1,missense_variant,p.Arg707Ile,ENST00000286628,NM_001161352.1;KCNMA1,missense_variant,p.Arg707Ile,ENST00000404771,;KCNMA1,missense_variant,p.Arg681Ile,ENST00000457953,;KCNMA1,missense_variant,p.Arg642Ile,ENST00000372437,;KCNMA1,missense_variant,p.Arg711Ile,ENST00000406533,;KCNMA1,intron_variant,,ENST00000604624,NM_001271518.1,NM_001014797.2;KCNMA1,intron_variant,,ENST00000286627,NM_002247.3,NM_001271519.1;KCNMA1,intron_variant,,ENST00000372443,;KCNMA1,intron_variant,,ENST00000372440,;KCNMA1,intron_variant,,ENST00000372421,;KCNMA1,intron_variant,,ENST00000354353,;KCNMA1,intron_variant,,ENST00000404857,NM_001161353.1;KCNMA1,intron_variant,,ENST00000372408,;KCNMA1,intron_variant,,ENST00000372403,;KCNMA1,intron_variant,,ENST00000434208,;KCNMA1,intron_variant,,ENST00000450795,;KCNMA1,intron_variant,,ENST00000475352,;							MODERATE	2120/3711	R707I	KCMA1_HUMAN			Transcript		unknown(0)	.	ENSP00000286628		CCDS60569.1			1	
LPCAT2	0	LGGM	GRCh37	16	55616836	55616836	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	5	.	.	ENST00000262134.5:c.1461A>C	p.Lys487Asn	p.K487N	ENST00000262134	NM_017839.4	487	aaA/aaC	0	1	1	UPI00001BD900	0	NA	ENST00000262134		ENSG00000087253	26032		36	1.32		HGNC	p.K487N		LPCAT2		SNV							ENST00000262134	protein_coding	getma.org/?cm=var&var=hg19,16,55616836,A,C&fts=all		Gene3D:1.10.238.10,hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF12,Superfamily_domains:SSF47473		K/N		C	low	1645/5391		getma.org/?cm=msa&ty=f&p=PCAT2_HUMAN&rb=458&re=508&var=K487N	tolerated(0.06)				YES	LPCAT2,missense_variant,p.Lys487Asn,ENST00000262134,NM_017839.4;LPCAT2,non_coding_transcript_exon_variant,,ENST00000565056,;LPCAT2,non_coding_transcript_exon_variant,,ENST00000566915,;LPCAT2,non_coding_transcript_exon_variant,,ENST00000562299,;							MODERATE	1461/1635	K487N	PCAT2_HUMAN			Transcript		possibly_damaging(0.548)	.	ENSP00000262134		CCDS10753.1			1	
TEX11	0	LGGM	GRCh37	X	69945191	69945191	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	5	.	.	ENST00000395889.2:c.891A>G	p.Glu297=	p.E297=	ENST00000395889	NM_001003811.1	297	gaA/gaG	0	1		UPI000013CA89	0		ENST00000344304		ENSG00000120498	11733		17			HGNC	p.E297E		TEX11		SNV			1				ENST00000344304	protein_coding			hmmpanther:PTHR22904:SF291,hmmpanther:PTHR22904,Pfam_domain:PF08631		E		C		891/2977	2.12E-05							TEX11,splice_region_variant,p.=,ENST00000395889,NM_001003811.1;TEX11,splice_region_variant,p.=,ENST00000374333,NM_031276.2;TEX11,splice_region_variant,p.=,ENST00000344304,;TEX11,upstream_gene_variant,,ENST00000374320,;							LOW	891/2823		TEX11_HUMAN			Transcript			.	ENSP00000340995	1.65E-05	CCDS35323.1			1	
STK39	0	LGGM	GRCh37	2	168812006	168812006	+	stop_lost	Nonstop_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	5	.	.	ENST00000355999.4:c.1638A>C	p.Ter546CysextTer53	p.*546Cext*53	ENST00000355999	NM_013233.2	546	tgA/tgC	0	1	1	UPI000013D46D	0		ENST00000355999		ENSG00000198648	17717		18			HGNC	p.X546C		STK39		SNV							ENST00000355999	protein_coding					*/C		G		2344/3820							YES	STK39,stop_lost,p.Ter546CysextTer53,ENST00000355999,NM_013233.2;STK39,non_coding_transcript_exon_variant,,ENST00000487143,;							HIGH	1638/1638		STK39_HUMAN			Transcript			.	ENSP00000348278		CCDS42770.1			1	
SPAG6	0	LGGM	GRCh37	10	22700101	22700101	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	5	.	.	ENST00000376624.3:c.1456G>C	p.Val486Leu	p.V486L	ENST00000376624	NM_012443.3	486	Gtg/Ctg	0	1	1	UPI0000073ED7	0	NA	ENST00000376624		ENSG00000077327	11215		21	3.19		HGNC	p.V247L		SPAG6		SNV							ENST00000376601	protein_coding	getma.org/?cm=var&var=hg19,10,22700101,G,C&fts=all		hmmpanther:PTHR23314,hmmpanther:PTHR23314:SF1,Superfamily_domains:SSF48371		V/L		C	medium	1598/2605		getma.org/?cm=msa&ty=f&p=SPAG6_HUMAN&rb=366&re=509&var=V486L	deleterious(0)				YES	SPAG6,missense_variant,p.Val562Leu,ENST00000376603,;SPAG6,missense_variant,p.Val486Leu,ENST00000376624,NM_012443.3,NM_001253855.1;SPAG6,missense_variant,p.Val461Leu,ENST00000538630,NM_001253854.1;SPAG6,missense_variant,p.Val247Leu,ENST00000376601,;SPAG6,intron_variant,,ENST00000313311,NM_172242.2;RP11-301N24.3,intron_variant,,ENST00000422675,;SPAG6,non_coding_transcript_exon_variant,,ENST00000490361,;SPAG6,intron_variant,,ENST00000487973,;							MODERATE	1456/1530	V486L	SPAG6_HUMAN			Transcript		possibly_damaging(0.468)	.	ENSP00000365811		CCDS7139.1			1	
ETFA	0	LGGM	GRCh37	15	76580264	76580264	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	5	.	.	ENST00000557943.1:c.374C>G	p.Ala125Gly	p.A125G	ENST00000557943	NM_000126.3	125	gCc/gGc	0	1	1	UPI0000001BC8	0	getma.org/pdb.php?prot=ETFA_HUMAN&from=21&to=175&var=A125G	ENST00000557943		ENSG00000140374	3481		23	2.275		HGNC	p.A125G		ETFA		SNV			1				ENST00000559386	protein_coding	getma.org/?cm=var&var=hg19,15,76580264,G,C&fts=all		Gene3D:3.40.50.620,Pfam_domain:PF01012,PIRSF_domain:PIRSF000089,SMART_domains:SM00893,Superfamily_domains:SSF52402		A/G		C	medium	455/2287		getma.org/?cm=msa&ty=f&p=ETFA_HUMAN&rb=21&re=175&var=A125G	tolerated(0.09)	H0YL83_HUMAN			YES	ETFA,missense_variant,p.Ala125Gly,ENST00000557943,NM_000126.3;ETFA,missense_variant,p.Ala76Gly,ENST00000433983,NM_001127716.1;ETFA,missense_variant,p.Ala125Gly,ENST00000560595,;ETFA,missense_variant,p.Ala125Gly,ENST00000559386,;ETFA,missense_variant,p.Ala29Gly,ENST00000559973,;ETFA,missense_variant,p.Ala21Gly,ENST00000559602,;ETFA,missense_variant,p.Ala63Gly,ENST00000560345,;ETFA,5_prime_UTR_variant,,ENST00000560726,;ETFA,upstream_gene_variant,,ENST00000560816,;ETFA,3_prime_UTR_variant,,ENST00000267950,;ETFA,3_prime_UTR_variant,,ENST00000560044,;ETFA,5_prime_UTR_variant,,ENST00000560899,;ETFA,3_prime_UTR_variant,,ENST00000560309,;ETFA,non_coding_transcript_exon_variant,,ENST00000559075,;ETFA,non_coding_transcript_exon_variant,,ENST00000559758,;ETFA,non_coding_transcript_exon_variant,,ENST00000561092,;ETFA,upstream_gene_variant,,ENST00000558803,;							MODERATE	374/1002	A125G	ETFA_HUMAN			Transcript		benign(0.03)	.	ENSP00000452762		CCDS32299.1			1	
VIL1	0	LGGM	GRCh37	2	219294125	219294125	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	5	.	.	ENST00000248444.5:c.685G>A	p.Val229Met	p.V229M	ENST00000248444	NM_007127.2	229	Gtg/Atg	0	1	1	UPI000013CC45	0	NA	ENST00000248444		ENSG00000127831	12690		15	2.785		HGNC	p.V229M	rs769041951	VIL1		SNV							ENST00000440053	protein_coding	getma.org/?cm=var&var=hg19,2,219294125,G,A&fts=all		Superfamily_domains:SSF82754,SMART_domains:SM00262,hmmpanther:PTHR11977,hmmpanther:PTHR11977:SF35		V/M		A	medium	773/6531		getma.org/?cm=msa&ty=f&p=VILI_HUMAN&rb=221&re=265&var=V229M	deleterious(0.01)	Q53S11_HUMAN,B4DV78_HUMAN			YES	VIL1,missense_variant,p.Val229Met,ENST00000248444,NM_007127.2;VIL1,missense_variant,p.Val229Met,ENST00000440053,;VIL1,intron_variant,,ENST00000392114,;VIL1,upstream_gene_variant,,ENST00000419986,;VIL1,downstream_gene_variant,,ENST00000454069,;	0.000231						MODERATE	685/2484	V229M	VILI_HUMAN			Transcript		benign(0.399)	.	ENSP00000248444	1.65E-05	CCDS2417.1			1	
SLC24A5	0	LGGM	GRCh37	15	48429151	48429151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	5	.	.	ENST00000341459.3:c.862G>A	p.Val288Ile	p.V288I	ENST00000341459	NM_205850.2	288	Gtt/Att	0	1	1	UPI0000242BC9	0	NA	ENST00000341459		ENSG00000188467	20611		50	0.37		HGNC	p.V228I		SLC24A5		SNV			1				ENST00000449382	protein_coding	getma.org/?cm=var&var=hg19,15,48429151,G,A&fts=all		TIGRFAM_domain:TIGR00367,hmmpanther:PTHR10846:SF27,hmmpanther:PTHR10846		V/I		A	neutral	935/1897		getma.org/?cm=msa&ty=f&p=NCKX5_HUMAN&rb=215&re=342&var=V288I	tolerated(0.74)				YES	SLC24A5,missense_variant,p.Val288Ile,ENST00000341459,NM_205850.2;SLC24A5,missense_variant,p.Val228Ile,ENST00000449382,;MYEF2,downstream_gene_variant,,ENST00000324324,NM_016132.3;MYEF2,downstream_gene_variant,,ENST00000267836,;MYEF2,downstream_gene_variant,,ENST00000560172,;SLC24A5,non_coding_transcript_exon_variant,,ENST00000463289,;MYEF2,downstream_gene_variant,,ENST00000558289,;MYEF2,downstream_gene_variant,,ENST00000560530,;							MODERATE	862/1503	V288I	NCKX5_HUMAN			Transcript		benign(0.001)	.	ENSP00000341550		CCDS10128.1			1	
DPYSL2	0	LGGM	GRCh37	8	26513142	26513142	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	34	5	.	.	ENST00000311151.5:c.1639G>C	p.Asp547His	p.D547H	ENST00000311151	NM_001386.5	547	Gat/Cat	0	1	1	UPI0000129864	0	NA	ENST00000311151		ENSG00000092964	3014		39	3.165		HGNC	p.D511H		DPYSL2		SNV							ENST00000523027	protein_coding	getma.org/?cm=var&var=hg19,8,26513142,G,C&fts=all				D/H		C	medium	2051/4603		getma.org/?cm=msa&ty=f&p=DPYL2_HUMAN&rb=414&re=572&var=D547H	deleterious(0)	Q8NAN9_HUMAN,A9CQZ2_HUMAN			YES	DPYSL2,missense_variant,p.Asp547His,ENST00000311151,NM_001386.5;DPYSL2,missense_variant,p.Asp511His,ENST00000521913,NM_001197293.2;DPYSL2,missense_variant,p.Asp511His,ENST00000523027,NM_001244604.1;							MODERATE	1639/1719	D547H	DPYL2_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000309539		CCDS6051.1			1	
MAP3K5	0	LGGM	GRCh37	6	136888792	136888792	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	6	.	.	ENST00000359015.4:c.3738A>G	p.Gly1246=	p.G1246=	ENST00000359015	NM_005923.3	1246	ggA/ggG	0	1	1	UPI000012EAD5	0		ENST00000359015		ENSG00000197442	6857		20			HGNC	p.G493G		MAP3K5		SNV							ENST00000355845	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332		G		C		4099/5197				A6NIA0_HUMAN			YES	MAP3K5,synonymous_variant,p.=,ENST00000359015,NM_005923.3;MAP3K5,synonymous_variant,p.=,ENST00000355845,;							LOW	3738/4125		M3K5_HUMAN			Transcript			.	ENSP00000351908		CCDS5179.1			1	
ASPHD2	0	LGGM	GRCh37	22	26829933	26829933	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	9	6	.	.	ENST00000215906.5:c.352C>T	p.His118Tyr	p.H118Y	ENST00000215906	NM_020437.4	118	Cac/Tac	0	1	1	UPI000037659F	0	NA	ENST00000215906		ENSG00000128203	30437		15	0.69		HGNC	p.H118Y		ASPHD2		SNV							ENST00000215906	protein_coding	getma.org/?cm=var&var=hg19,22,26829933,C,T&fts=all		hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF18		H/Y		T	neutral	790/3357		getma.org/?cm=msa&ty=f&p=ASPH2_HUMAN&rb=86&re=189&var=H118Y	tolerated(0.17)	B3KUG5_HUMAN			YES	ASPHD2,missense_variant,p.His118Tyr,ENST00000215906,NM_020437.4;							MODERATE	352/1110	H118Y	ASPH2_HUMAN			Transcript		benign(0.114)	.	ENSP00000215906		CCDS13834.2			1	
ZBTB1	0	LGGM	GRCh37	14	64990087	64990087	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	101	6	.	.	ENST00000394712.2:c.1865G>T	p.Arg622Leu	p.R622L	ENST00000394712	NM_001123329.1	622	cGa/cTa	0	1		UPI00001FD6B2	0	NA	ENST00000554015		ENSG00000126804	20259		107	1.335		HGNC	p.R622L		ZBTB1		SNV							ENST00000358738	protein_coding	getma.org/?cm=var&var=hg19,14,64990087,G,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF326,PROSITE_profiles:PS50157		R/L		T	low	2296/2825		getma.org/?cm=msa&ty=f&p=ZBTB1_HUMAN&rb=618&re=661&var=R622L	deleterious(0)	G3V447_HUMAN,G3V3N0_HUMAN,G3V2I8_HUMAN				ZBTB1,missense_variant,p.Arg622Leu,ENST00000358738,NM_014950.2;ZBTB1,missense_variant,p.Arg622Leu,ENST00000394712,NM_001123329.1;ZBTB1,missense_variant,p.Arg622Leu,ENST00000554015,;ZBTB1,downstream_gene_variant,,ENST00000555321,;ZBTB1,downstream_gene_variant,,ENST00000553583,;ZBTB1,downstream_gene_variant,,ENST00000556965,;RP11-973N13.4,intron_variant,,ENST00000554918,;							MODERATE	1865/2142	R622L	ZBTB1_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000451000		CCDS45126.1			1	
AGL	0	LGGM	GRCh37	1	100336353	100336353	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	6	.	.	ENST00000294724.4:c.886C>T	p.Leu296Phe	p.L296F	ENST00000294724	NM_000028.2	296	Ctt/Ttt	0	1	1	UPI00001694CB	0	NA	ENST00000294724		ENSG00000162688	321		18	1.355		HGNC	p.L279F	COSM1244647	AGL		SNV			1			1	ENST00000361522	protein_coding	getma.org/?cm=var&var=hg19,1,100336353,C,T&fts=all		hmmpanther:PTHR10569,Pfam_domain:PF14701,Gene3D:3.20.20.80,TIGRFAM_domain:TIGR01531		L/F		T	low	1364/7446		getma.org/?cm=msa&ty=f&p=GDE_HUMAN&rb=201&re=400&var=L296F	tolerated(0.13)	G1UI17_HUMAN			YES	AGL,missense_variant,p.Leu296Phe,ENST00000294724,NM_000028.2;AGL,missense_variant,p.Leu296Phe,ENST00000361915,NM_000642.2;AGL,missense_variant,p.Leu279Phe,ENST00000361522,NM_000645.2;AGL,missense_variant,p.Leu280Phe,ENST00000361302,NM_000646.2;AGL,missense_variant,p.Leu296Phe,ENST00000370163,NM_000643.2;AGL,missense_variant,p.Leu296Phe,ENST00000370165,NM_000644.2;AGL,missense_variant,p.Leu280Phe,ENST00000370161,;AGL,upstream_gene_variant,,ENST00000477753,;					1		MODERATE	886/4599	L296F	GDE_HUMAN			Transcript		benign(0.07)	.	ENSP00000294724		CCDS759.1			1	
IGHV6-1	0	LGGM	GRCh37	14	106405706	106405706	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	72	6	.	.	ENST00000390593.2:c.268C>G	p.Arg90Gly	p.R90G	ENST00000390593		90	Cga/Gga	0	1	1	UPI0000113C49	0		ENST00000390593		ENSG00000211933	5662		78			HGNC	p.R90G		IGHV6-1		SNV							ENST00000390593	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00406,Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR23266:SF86,hmmpanther:PTHR23266,PROSITE_profiles:PS50835		R/G		C		320/415			deleterious(0.02)				YES	IGHV6-1,missense_variant,p.Arg90Gly,ENST00000390593,;							MODERATE	268/363					Transcript		possibly_damaging(0.747)	.	ENSP00000375002					1	
MUC4	0	LGGM	GRCh37	3	195508974	195508974	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	35	6	.	.	ENST00000463781.3:c.9477C>A	p.Ser3159=	p.S3159=	ENST00000463781	NM_018406.6	3159	tcC/tcA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		41			HGNC	p.S3159S		MUC4		SNV							ENST00000480843	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		S		T		9937/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;MUC4,upstream_gene_variant,,ENST00000448861,;MUC4,upstream_gene_variant,,ENST00000308466,;MUC4,upstream_gene_variant,,ENST00000339251,;MUC4,upstream_gene_variant,,ENST00000415455,;MUC4,upstream_gene_variant,,ENST00000392407,;							LOW	9477/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
TECTA	0	LGGM	GRCh37	11	120998811	120998811	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	6	.	.	ENST00000392793.1:c.2125C>G	p.Arg709Gly	p.R709G	ENST00000392793		709	Cgg/Ggg	0	1		UPI000045659D	0	NA	ENST00000264037		ENSG00000109927	11720		21	0.7		HGNC	p.R709G		TECTA		SNV			1				ENST00000392793	protein_coding	getma.org/?cm=var&var=hg19,11,120998811,C,G&fts=all		hmmpanther:PTHR11339,SMART_domains:SM00215,SMART_domains:SM00216		R/G		G	neutral	2125/6468		getma.org/?cm=msa&ty=f&p=TECTA_HUMAN&rb=677&re=742&var=R709G	tolerated(0.1)					TECTA,missense_variant,p.Arg709Gly,ENST00000392793,;TECTA,missense_variant,p.Arg709Gly,ENST00000264037,NM_005422.2;							MODERATE	2125/6468	R709G	TECTA_HUMAN			Transcript		benign(0.199)	.	ENSP00000264037		CCDS8434.1			1	
MAD2L1BP	0	LGGM	GRCh37	6	43604155	43604155	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	84	6	.	.	ENST00000451025.2:c.180C>A	p.Ala60=	p.A60=	ENST00000451025	NM_001003690.1	60	gcC/gcA	0	1		UPI0000000C4A	0		ENST00000372171		ENSG00000124688	21059		90			HGNC	p.A28A		MAD2L1BP		SNV							ENST00000372171	protein_coding			Pfam_domain:PF06581,hmmpanther:PTHR15681,hmmpanther:PTHR15681:SF1		A		A		141/1301								MAD2L1BP,synonymous_variant,p.=,ENST00000451025,NM_001003690.1;MAD2L1BP,synonymous_variant,p.=,ENST00000372171,NM_014628.2;MAD2L1BP,non_coding_transcript_exon_variant,,ENST00000508232,;							LOW	84/825		MD2BP_HUMAN			Transcript			.	ENSP00000361244		CCDS4904.1			1	
PROX1	0	LGGM	GRCh37	1	214171559	214171559	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	60	6	.	.	ENST00000366958.4:c.1681G>A	p.Asp561Asn	p.D561N	ENST00000366958	NM_001270616.1	561	Gat/Aat	0	1		UPI0000071D14	0	NA	ENST00000261454		ENSG00000117707	9459		66	2.255		HGNC	p.D561N		PROX1		SNV							ENST00000261454	protein_coding	getma.org/?cm=var&var=hg19,1,214171559,G,A&fts=all		hmmpanther:PTHR12198:SF2,hmmpanther:PTHR12198		D/N		A	medium	1681/2797		getma.org/?cm=msa&ty=f&p=PROX1_HUMAN&rb=308&re=735&var=D561N	deleterious(0)	U3KPY6_HUMAN,C9JU29_HUMAN,B4DP41_HUMAN				PROX1,missense_variant,p.Asp561Asn,ENST00000366958,NM_001270616.1;PROX1,missense_variant,p.Asp561Asn,ENST00000498508,;PROX1,missense_variant,p.Asp561Asn,ENST00000435016,NM_002763.4;PROX1,missense_variant,p.Asp561Asn,ENST00000261454,;PROX1,downstream_gene_variant,,ENST00000471129,;PROX1,downstream_gene_variant,,ENST00000607425,;							MODERATE	1681/2214	D561N	PROX1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000261454		CCDS31021.1			1	
BSPRY	0	LGGM	GRCh37	9	116132010	116132010	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	6	.	.	ENST00000374183.4:c.797C>G	p.Pro266Arg	p.P266R	ENST00000374183	NM_017688.2	266	cCg/cGg	0	1	1	UPI000013CA39	0	NA	ENST00000374183		ENSG00000119411	18232		28	3.41		HGNC	p.P266R	COSM3664021	BSPRY		SNV						1	ENST00000374183	protein_coding	getma.org/?cm=var&var=hg19,9,116132010,C,G&fts=all		PROSITE_profiles:PS50188,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF242,Pfam_domain:PF13765,SMART_domains:SM00589,Superfamily_domains:SSF49899		P/R		G	medium	836/2339		getma.org/?cm=msa&ty=f&p=BSPRY_HUMAN&rb=232&re=281&var=P266R	deleterious(0)				YES	BSPRY,missense_variant,p.Pro266Arg,ENST00000374183,NM_017688.2;HDHD3,downstream_gene_variant,,ENST00000238379,NM_031219.2;HDHD3,downstream_gene_variant,,ENST00000374180,;BSPRY,non_coding_transcript_exon_variant,,ENST00000462085,;HDHD3,downstream_gene_variant,,ENST00000485934,;					1		MODERATE	797/1209	P266R	BSPRY_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000363298		CCDS43868.1			1	
TNK1	0	LGGM	GRCh37	17	7292202	7292202	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	2	6	.	.	ENST00000576812.1:c.1887G>C	p.Lys629Asn	p.K629N	ENST00000576812	NM_001251902.1	629	aaG/aaC	0	1	1	UPI000013F1D0	0	NA	ENST00000576812		ENSG00000174292	11940		8	2.325		HGNC	p.K624N		TNK1		SNV							ENST00000311668	protein_coding	getma.org/?cm=var&var=hg19,17,7292202,G,C&fts=all		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF187		K/N		C	medium	2256/3023		getma.org/?cm=msa&ty=f&p=TNK1_HUMAN&rb=575&re=664&var=K629N	deleterious(0)				YES	TNK1,missense_variant,p.Lys624Asn,ENST00000570896,;TNK1,missense_variant,p.Lys629Asn,ENST00000576812,NM_001251902.1;TNK1,missense_variant,p.Lys624Asn,ENST00000311668,NM_003985.4;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000535512,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000574401,NM_020360.3;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000576201,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000324822,NM_001201576.1;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000576362,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000575434,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000571078,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000571802,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000573213,;TNK1,downstream_gene_variant,,ENST00000576716,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000573331,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000571541,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000573774,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000573070,;TMEM256-PLSCR3,downstream_gene_variant,,ENST00000575543,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000570600,;C17orf61-PLSCR3,downstream_gene_variant,,ENST00000571125,;TNK1,downstream_gene_variant,,ENST00000576136,;TNK1,downstream_gene_variant,,ENST00000577009,;							MODERATE	1887/2001	K629N	TNK1_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000459799		CCDS58510.1			1	
SI	0	LGGM	GRCh37	3	164786908	164786908	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	6	.	.	ENST00000264382.3:c.331A>G	p.Asn111Asp	p.N111D	ENST00000264382	NM_001041.3	111	Aat/Gat	0	1	1	UPI000022C287	0	getma.org/pdb.php?prot=SUIS_HUMAN&from=110&to=309&var=N111D	ENST00000264382		ENSG00000090402	10856		38	2.405		HGNC	p.N111D		SI		SNV			1				ENST00000264382	protein_coding	getma.org/?cm=var&var=hg19,3,164786908,T,C&fts=all		Superfamily_domains:SSF74650,SMART_domains:SM00018,Gene3D:4.10.110.10,hmmpanther:PTHR22762,hmmpanther:PTHR22762:SF66		N/D		C	medium	394/6011		getma.org/?cm=msa&ty=f&p=SUIS_HUMAN&rb=110&re=309&var=N111D	tolerated(0.14)				YES	SI,missense_variant,p.Asn111Asp,ENST00000264382,NM_001041.3;SI,3_prime_UTR_variant,,ENST00000476593,;							MODERATE	331/5484	N111D	SUIS_HUMAN			Transcript		benign(0.014)	.	ENSP00000264382		CCDS3196.1			1	
IL31RA	0	LGGM	GRCh37	5	55178898	55178898	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	53	6	.	.	ENST00000447346.2:c.481C>T	p.Arg161Cys	p.R161C	ENST00000447346	NM_001242636.1	161	Cgt/Tgt	0	1	1	UPI00001A41DC	0	getma.org/pdb.php?prot=IL31R_HUMAN&from=123&to=215&var=R129C	ENST00000447346		ENSG00000164509	18969		59	0.695		HGNC	p.R161C	rs769003360	IL31RA	6.06E-05	SNV			1				ENST00000359040	protein_coding	getma.org/?cm=var&var=hg19,5,55178898,C,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		R/C		T	neutral	546/2577		getma.org/?cm=msa&ty=f&p=IL31R_HUMAN&rb=123&re=215&var=R129C	deleterious(0.01)				YES	IL31RA,missense_variant,p.Arg142Cys,ENST00000396834,NM_001242638.1;IL31RA,missense_variant,p.Arg161Cys,ENST00000447346,NM_001242636.1,NM_139017.5;IL31RA,missense_variant,p.Arg161Cys,ENST00000359040,NM_001242637.1;IL31RA,missense_variant,p.Arg161Cys,ENST00000396836,;IL31RA,missense_variant,p.Arg19Cys,ENST00000490985,NM_001242639.1;IL31RA,missense_variant,p.Arg19Cys,ENST00000297015,;IL31RA,missense_variant,p.Arg142Cys,ENST00000354961,;							MODERATE	481/2295	R129C	IL31R_HUMAN			Transcript		benign(0.001)	.	ENSP00000415900	8.24E-06	CCDS3970.2			1	
STX11	0	LGGM	GRCh37	6	144508513	144508513	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	4	6	.	.	ENST00000367568.4:c.749A>T	p.Gln250Leu	p.Q250L	ENST00000367568	NM_003764.3	250	cAa/cTa	0	1	1	UPI0000001C25	0	getma.org/pdb.php?prot=STX11_HUMAN&from=209&to=271&var=Q250L	ENST00000367568		ENSG00000135604	11429		10	1.255		HGNC	p.Q250L		STX11		SNV			1				ENST00000367568	protein_coding	getma.org/?cm=var&var=hg19,6,144508513,A,T&fts=all		Superfamily_domains:SSF47661,SMART_domains:SM00397,Pfam_domain:PF05739,Gene3D:1.20.58.70,hmmpanther:PTHR19957,hmmpanther:PTHR19957:SF30,PROSITE_profiles:PS50192		Q/L		T	low	932/1926		getma.org/?cm=msa&ty=f&p=STX11_HUMAN&rb=209&re=271&var=Q250L	tolerated(0.72)				YES	STX11,missense_variant,p.Gln250Leu,ENST00000367568,NM_003764.3;							MODERATE	749/864	Q250L	STX11_HUMAN			Transcript		benign(0.003)	.	ENSP00000356540		CCDS5205.1			1	
OR2C3	0	LGGM	GRCh37	1	247695097	247695097	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	51	7	.	.	ENST00000366487.3:c.717C>T	p.Phe239=	p.F239=	ENST00000366487	NM_198074.4	239	ttC/ttT	0	1	1	UPI0000061EBD	0		ENST00000366487		ENSG00000196242	15005		58			HGNC	p.F239F		OR2C3		SNV							ENST00000366487	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF117,Superfamily_domains:SSF81321		F		A		1079/2742							YES	OR2C3,synonymous_variant,p.=,ENST00000366487,NM_198074.4;GCSAML,intron_variant,,ENST00000366491,NM_001281834.1;GCSAML,intron_variant,,ENST00000366489,NM_001281838.1,NM_001281835.1;GCSAML,intron_variant,,ENST00000463359,;GCSAML,intron_variant,,ENST00000527084,;GCSAML,intron_variant,,ENST00000527541,;GCSAML,intron_variant,,ENST00000529512,;GCSAML,intron_variant,,ENST00000366490,;GCSAML,intron_variant,,ENST00000526896,;GCSAML,intron_variant,,ENST00000531662,;							LOW	717/963		OR2C3_HUMAN			Transcript			.	ENSP00000355443		CCDS1634.2			1	
CDH18	0	LGGM	GRCh37	5	19612581	19612581	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	7	.	.	ENST00000507958.1:c.773T>A	p.Leu258Ter	p.L258*	ENST00000507958		258	tTa/tAa	0	1		UPI0000126DBD	0	NA	ENST00000274170		ENSG00000145526	1757		39	0		HGNC	p.L258X		CDH18		SNV							ENST00000382275	protein_coding	getma.org/?cm=var&var=hg19,5,19612581,A,T&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF106,hmmpanther:PTHR24027,PROSITE_patterns:PS00232,Gene3D:2.60.40.60,Pfam_domain:PF00028,SMART_domains:SM00112,Superfamily_domains:SSF49313,Prints_domain:PR00205		L/*		T	NA	1285/2885		NA						CDH18,stop_gained,p.Leu258Ter,ENST00000507958,;CDH18,stop_gained,p.Leu258Ter,ENST00000382275,NM_004934.3,NM_001167667.1;CDH18,stop_gained,p.Leu258Ter,ENST00000274170,;CDH18,stop_gained,p.Leu258Ter,ENST00000506372,;CDH18,stop_gained,p.Leu258Ter,ENST00000502796,;CDH18,stop_gained,p.Leu258Ter,ENST00000511273,;CDH18,stop_gained,p.Leu204Ter,ENST00000515257,;							HIGH	773/2373	L258*	CAD18_HUMAN			Transcript			.	ENSP00000274170		CCDS3889.1			1	
PDK4	0	LGGM	GRCh37	7	95216331	95216331	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	7	.	.	ENST00000005178.5:c.1086C>T	p.Ile362=	p.I362=	ENST00000005178	NM_002612.3	362	atC/atT	0	1	1	UPI000000D984	0		ENST00000005178		ENSG00000004799	8812		19			HGNC	p.I362I		PDK4		SNV							ENST00000005178	protein_coding			Gene3D:3.30.565.10,Pfam_domain:PF02518,PROSITE_profiles:PS50109,hmmpanther:PTHR11947,hmmpanther:PTHR11947:SF17,SMART_domains:SM00387,Superfamily_domains:SSF55874		I		A		1284/3576				B3KUX1_HUMAN,B3KU25_HUMAN,A4D1H4_HUMAN			YES	PDK4,synonymous_variant,p.=,ENST00000005178,NM_002612.3;PDK4,non_coding_transcript_exon_variant,,ENST00000473796,;PDK4,non_coding_transcript_exon_variant,,ENST00000468445,;PDK4,downstream_gene_variant,,ENST00000498190,;							LOW	1086/1236		PDK4_HUMAN			Transcript			.	ENSP00000005178		CCDS5643.1			1	
ZC3H6	0	LGGM	GRCh37	2	113081892	113081892	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	35	7	.	.	ENST00000409871.1:c.1504C>T	p.His502Tyr	p.H502Y	ENST00000409871	NM_198581.2	502	Cac/Tac	0	1		UPI00004215E8	0	NA	ENST00000343936		ENSG00000188177	24762		42	1.245		HGNC	p.H502Y		ZC3H6		SNV							ENST00000343936	protein_coding	getma.org/?cm=var&var=hg19,2,113081892,C,T&fts=all		hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22		H/Y		T	low	1898/11539		getma.org/?cm=msa&ty=f&p=ZC3H6_HUMAN&rb=499&re=698&var=H502Y	tolerated(0.16)					ZC3H6,missense_variant,p.His502Tyr,ENST00000409871,NM_198581.2;ZC3H6,missense_variant,p.His502Tyr,ENST00000343936,;							MODERATE	1504/3570	H502Y	ZC3H6_HUMAN			Transcript		benign(0.045)	.	ENSP00000340298					1	
ASXL3	0	LGGM	GRCh37	18	31318681	31318681	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	55	7	.	.	ENST00000269197.5:c.1313A>T	p.Glu438Val	p.E438V	ENST00000269197	NM_030632.1	438	gAg/gTg	0	1	1	UPI000156D0F3	0	NA	ENST00000269197		ENSG00000141431	29357		62	1.905		HGNC	p.E438V		ASXL3		SNV			1				ENST00000269197	protein_coding	getma.org/?cm=var&var=hg19,18,31318681,A,T&fts=all		hmmpanther:PTHR13578,hmmpanther:PTHR13578:SF18		E/V		T	medium	1313/11344		getma.org/?cm=msa&ty=f&p=ASXL3_HUMAN&rb=368&re=567&var=E438V		K7EQY1_HUMAN			YES	ASXL3,missense_variant,p.Glu438Val,ENST00000269197,NM_030632.1;ASXL3,3_prime_UTR_variant,,ENST00000592288,;							MODERATE	1313/6747	E438V	ASXL3_HUMAN			Transcript		benign(0.013)	.	ENSP00000269197		CCDS45847.1			1	
HCRTR2	0	LGGM	GRCh37	6	55120032	55120032	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	36	7	.	.	ENST00000370862.3:c.501G>T	p.Lys167Asn	p.K167N	ENST00000370862	NM_001526.3	167	aaG/aaT	0	1	1	UPI000013D07A	0	getma.org/pdb.php?prot=OX2R_HUMAN&from=71&to=364&var=K167N	ENST00000370862		ENSG00000137252	4849		43	1.825		HGNC	p.K167N		HCRTR2		SNV							ENST00000370862	protein_coding	getma.org/?cm=var&var=hg19,6,55120032,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24241:SF56,hmmpanther:PTHR24241,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01064		K/N		T	low	837/1837		getma.org/?cm=msa&ty=f&p=OX2R_HUMAN&rb=71&re=364&var=K167N	tolerated(0.12)	S4X0W3_HUMAN,A6N9G8_HUMAN			YES	HCRTR2,missense_variant,p.Lys167Asn,ENST00000370862,NM_001526.3;							MODERATE	501/1335	K167N	OX2R_HUMAN			Transcript		benign(0.062)	.	ENSP00000359899		CCDS4956.1			1	
EFCAB6	0	LGGM	GRCh37	22	44107396	44107396	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	30	7	.	.	ENST00000262726.7:c.990A>G	p.Val330=	p.V330=	ENST00000262726	NM_022785.3	330	gtA/gtG	0	1	1	UPI0000225CD7	0		ENST00000262726		ENSG00000186976	24204		37			HGNC	p.V178V		EFCAB6		SNV							ENST00000396231	protein_coding			Gene3D:1.10.238.10,PROSITE_profiles:PS50222,Superfamily_domains:SSF47473		V		C		1244/4869							YES	EFCAB6,synonymous_variant,p.=,ENST00000262726,NM_022785.3;EFCAB6,synonymous_variant,p.=,ENST00000396231,NM_198856.2;EFCAB6,synonymous_variant,p.=,ENST00000358439,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;							LOW	990/4506		EFCB6_HUMAN			Transcript			.	ENSP00000262726		CCDS14049.1			1	
ALG1L1P	0	LGGM	GRCh37	3	125648214	125648214	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	8	.	.	ENST00000340333.3:c.545C>A	p.Ser182Tyr	p.S182Y	ENST00000340333	NM_001195223.1	182	tCt/tAt	0	1	1	UPI000020A11A	0	NA	ENST00000340333		ENSG00000189366	33721		20	0		HGNC	p.S182Y		ALG1L		SNV							ENST00000340333	protein_coding	getma.org/?cm=var&var=hg19,3,125648214,G,T&fts=all				S/Y		T	neutral	709/805		getma.org/?cm=msa&ty=f&p=ALG1L_HUMAN&rb=122&re=187&var=S182Y	deleterious_low_confidence(0)				YES	ALG1L,missense_variant,p.Ser182Tyr,ENST00000340333,NM_001195223.1,NM_001015050.2;FAM86JP,non_coding_transcript_exon_variant,,ENST00000485843,;FAM86JP,non_coding_transcript_exon_variant,,ENST00000467239,;FAM86JP,non_coding_transcript_exon_variant,,ENST00000486431,;FAM86JP,downstream_gene_variant,,ENST00000484500,;							MODERATE	545/564	S182Y	ALG1L_HUMAN			Transcript		possibly_damaging(0.608)	.	ENSP00000340009		CCDS33840.1			1	
ACSL5	0	LGGM	GRCh37	10	114158761	114158761	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	8	.	.	ENST00000356116.1:c.427G>T	p.Val143Leu	p.V143L	ENST00000356116	NM_016234.3	143	Gtg/Ttg	0	1		UPI000012E295	0	NA	ENST00000354273		ENSG00000197142	16526		27	1.775		HGNC	p.V87L		ACSL5		SNV							ENST00000433418	protein_coding	getma.org/?cm=var&var=hg19,10,114158761,G,T&fts=all		Gene3D:3.40.50.980,hmmpanther:PTHR24096,hmmpanther:PTHR24096:SF143,Superfamily_domains:SSF56801		V/L		T	low	538/3353		getma.org/?cm=msa&ty=f&p=ACSL5_HUMAN&rb=1&re=106&var=V87L	tolerated(0.17)					ACSL5,missense_variant,p.Val87Leu,ENST00000393081,NM_203380.1;ACSL5,missense_variant,p.Val87Leu,ENST00000354273,;ACSL5,missense_variant,p.Val143Leu,ENST00000356116,NM_016234.3;ACSL5,missense_variant,p.Val87Leu,ENST00000354655,NM_203379.1;ACSL5,missense_variant,p.Val87Leu,ENST00000433418,;ACSL5,non_coding_transcript_exon_variant,,ENST00000479936,;							MODERATE	259/2052	V87L	ACSL5_HUMAN			Transcript		benign(0.006)	.	ENSP00000346223		CCDS7573.1			1	
NFE2L1	0	LGGM	GRCh37	17	46136370	46136370	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	40	8	.	.	ENST00000362042.3:c.1686C>G	p.Leu562=	p.L562=	ENST00000362042	NM_003204.2	562	ctC/ctG	0	1	1	UPI000012FFCF	0		ENST00000362042		ENSG00000082641	7781		48			HGNC	p.L374L		NFE2L1		SNV							ENST00000582155	protein_coding			hmmpanther:PTHR24411:SF26,hmmpanther:PTHR24411		L		G		2302/4774				Q8NF22_HUMAN,J3QR31_HUMAN,J3QQY8_HUMAN,J3QQH8_HUMAN,J3QLQ1_HUMAN,J3KSR3_HUMAN			YES	NFE2L1,synonymous_variant,p.=,ENST00000362042,NM_003204.2;NFE2L1,synonymous_variant,p.=,ENST00000361665,;NFE2L1,synonymous_variant,p.=,ENST00000357480,;NFE2L1,synonymous_variant,p.=,ENST00000585291,;NFE2L1,synonymous_variant,p.=,ENST00000536222,;NFE2L1,synonymous_variant,p.=,ENST00000583378,;NFE2L1,synonymous_variant,p.=,ENST00000582155,;NFE2L1,synonymous_variant,p.=,ENST00000581319,;NFE2L1,downstream_gene_variant,,ENST00000584634,;NFE2L1,downstream_gene_variant,,ENST00000577431,;NFE2L1,downstream_gene_variant,,ENST00000580037,;NFE2L1,downstream_gene_variant,,ENST00000577411,;NFE2L1,downstream_gene_variant,,ENST00000583210,;NFE2L1,downstream_gene_variant,,ENST00000580050,;NFE2L1,downstream_gene_variant,,ENST00000579537,;RP5-890E16.4,downstream_gene_variant,,ENST00000583349,;							LOW	1686/2319		NF2L1_HUMAN			Transcript			.	ENSP00000354855		CCDS11524.1			1	
COX11	0	LGGM	GRCh37	17	53045649	53045649	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	17	8	.	.	ENST00000299335.3:c.359A>G	p.Tyr120Cys	p.Y120C	ENST00000299335	NM_004375.3	120	tAt/tGt	0	1	1	UPI000013E580	0	NA	ENST00000299335		ENSG00000166260	2261		25	2.135		HGNC	p.Y120C		COX11		SNV							ENST00000572558	protein_coding	getma.org/?cm=var&var=hg19,17,53045649,T,C&fts=all		HAMAP:MF_00155,Pfam_domain:PF04442,hmmpanther:PTHR21320,hmmpanther:PTHR21320:SF0,Transmembrane_helices:TMhelix		Y/C		C	medium	498/2497		getma.org/?cm=msa&ty=f&p=COX11_HUMAN&rb=113&re=264&var=Y120C	deleterious(0)	B4DEY8_HUMAN			YES	COX11,missense_variant,p.Tyr120Cys,ENST00000299335,NM_004375.3;COX11,missense_variant,p.Tyr120Cys,ENST00000571584,;STXBP4,upstream_gene_variant,,ENST00000376352,NM_178509.5;STXBP4,upstream_gene_variant,,ENST00000434978,;STXBP4,upstream_gene_variant,,ENST00000405898,;STXBP4,upstream_gene_variant,,ENST00000398391,;STXBP4,upstream_gene_variant,,ENST00000299341,;COX11,missense_variant,p.Tyr120Cys,ENST00000576370,;COX11,missense_variant,p.Tyr120Cys,ENST00000572558,NM_001162861.1,NM_001162862.1;STXBP4,upstream_gene_variant,,ENST00000464340,;COX11,upstream_gene_variant,,ENST00000574821,;STXBP4,upstream_gene_variant,,ENST00000461444,;							MODERATE	359/831	Y120C	COX11_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000299335		CCDS11583.1			1	
UBR5	0	LGGM	GRCh37	8	103277506	103277506	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	29	8	.	.	ENST00000520539.1:c.7423C>A	p.Gln2475Lys	p.Q2475K	ENST00000520539	NM_015902.5	2475	Cag/Aag	0	1	1	UPI0000129BCB	0	NA	ENST00000520539		ENSG00000104517	16806		37	1.1		HGNC	p.Q2475K		UBR5		SNV							ENST00000520539	protein_coding	getma.org/?cm=var&var=hg19,8,103277506,G,T&fts=all		hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF77,SMART_domains:SM00119		Q/K		T	low	8030/10297		getma.org/?cm=msa&ty=f&p=UBR5_HUMAN&rb=2462&re=2799&var=Q2475K	tolerated(0.93)	Q49A65_HUMAN,E5RFK7_HUMAN,B3KML2_HUMAN			YES	UBR5,missense_variant,p.Gln2475Lys,ENST00000520539,NM_015902.5;UBR5,splice_region_variant,,ENST00000220959,NM_001282873.1;UBR5,splice_region_variant,,ENST00000521922,;UBR5,splice_region_variant,,ENST00000518205,;UBR5,splice_region_variant,,ENST00000521767,;UBR5,splice_region_variant,,ENST00000521312,;UBR5,upstream_gene_variant,,ENST00000517465,;							MODERATE	7423/8400	Q2475K	UBR5_HUMAN			Transcript		benign(0.334)	.	ENSP00000429084		CCDS34933.1			1	
XRN2	0	LGGM	GRCh37	20	21312209	21312209	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	8	.	.	ENST00000377191.3:c.587C>G	p.Ser196Cys	p.S196C	ENST00000377191	NM_012255.3	196	tCt/tGt	0	1	1	UPI0000037D02	0	getma.org/pdb.php?prot=XRN2_HUMAN&from=1&to=255&var=S196C	ENST00000377191		ENSG00000088930	12836		40	4.255		HGNC	p.S142C		XRN2		SNV							ENST00000539513	protein_coding	getma.org/?cm=var&var=hg19,20,21312209,C,G&fts=all		hmmpanther:PTHR12341,Pfam_domain:PF03159,PIRSF_domain:PIRSF037239		S/C		G	high	682/3435		getma.org/?cm=msa&ty=f&p=XRN2_HUMAN&rb=1&re=255&var=S196C	deleterious(0)	B4DZC3_HUMAN			YES	XRN2,missense_variant,p.Ser196Cys,ENST00000377191,NM_012255.3;XRN2,missense_variant,p.Ser142Cys,ENST00000539513,;XRN2,missense_variant,p.Ser120Cys,ENST00000430571,;							MODERATE	587/2853	S196C	XRN2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000366396		CCDS13144.1			1	
SLC39A1	0	LGGM	GRCh37	1	153932597	153932597	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	72	8	.	.	ENST00000368623.3:c.952G>A	p.Gly318Ser	p.G318S	ENST00000368623		318	Ggc/Agc	0	1		UPI000006DDFE	0	NA	ENST00000310483		ENSG00000143570	12876		80	0.805		HGNC	p.G216S		SLC39A1		SNV							ENST00000537590	protein_coding	getma.org/?cm=var&var=hg19,1,153932597,C,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR11040,hmmpanther:PTHR11040:SF30		G/S		T	low	1418/2427		getma.org/?cm=msa&ty=f&p=S39A1_HUMAN&rb=27&re=320&var=G318S	tolerated(0.27)	Q5T4K4_HUMAN,Q5T4K3_HUMAN,Q5T4K2_HUMAN,B4DNN0_HUMAN				SLC39A1,missense_variant,p.Gly318Ser,ENST00000368623,;SLC39A1,missense_variant,p.Gly318Ser,ENST00000310483,NM_014437.4,NM_001271960.1;SLC39A1,missense_variant,p.Gly318Ser,ENST00000368621,NM_001271959.1,NM_001271957.1;SLC39A1,missense_variant,p.Gly318Ser,ENST00000356205,NM_001271958.1;SLC39A1,missense_variant,p.Gly216Ser,ENST00000537590,;SLC39A1,missense_variant,p.Gly318Ser,ENST00000429040,;CRTC2,upstream_gene_variant,,ENST00000368633,NM_181715.2;CRTC2,upstream_gene_variant,,ENST00000368630,;SLC39A1,downstream_gene_variant,,ENST00000413622,;SLC39A1,downstream_gene_variant,,ENST00000417348,;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,;							MODERATE	952/975	G318S	S39A1_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000309710		CCDS1055.1			1	
EXOC6	0	LGGM	GRCh37	10	94695571	94695571	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	9	8	.	.	ENST00000260762.6:c.1141T>C	p.Ser381Pro	p.S381P	ENST00000260762	NM_019053.4	381	Tcc/Ccc	0	1	1	UPI0000141914	0	NA	ENST00000260762		ENSG00000138190	23196		17	2.62		HGNC	p.S58P		EXOC6		SNV							ENST00000495132	protein_coding	getma.org/?cm=var&var=hg19,10,94695571,T,C&fts=all		hmmpanther:PTHR12702:SF2,hmmpanther:PTHR12702,PIRSF_domain:PIRSF025007		S/P		C	medium	1155/3564		getma.org/?cm=msa&ty=f&p=EXOC6_HUMAN&rb=201&re=400&var=S381P	deleterious(0.03)	Q9NTA6_HUMAN,H0Y5J8_HUMAN,B1AP46_HUMAN			YES	EXOC6,missense_variant,p.Ser376Pro,ENST00000371552,NM_001013848.2;EXOC6,missense_variant,p.Ser381Pro,ENST00000260762,NM_019053.4;EXOC6,missense_variant,p.Ser397Pro,ENST00000371547,;EXOC6,intron_variant,,ENST00000443748,;EXOC6,missense_variant,p.Ser58Pro,ENST00000495132,;							MODERATE	1141/2415	S381P	EXOC6_HUMAN			Transcript		possibly_damaging(0.737)	.	ENSP00000260762		CCDS7424.2			1	
TG	0	LGGM	GRCh37	8	133935628	133935628	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	8	.	.	ENST00000220616.4:c.4574A>G	p.Gln1525Arg	p.Q1525R	ENST00000220616	NM_003235.4	1525	cAg/cGg	0	1	1	UPI000013C79F	0	NA	ENST00000220616		ENSG00000042832	11764		27	2.08		HGNC	p.Q1525R		TG		SNV			1				ENST00000220616	protein_coding	getma.org/?cm=var&var=hg19,8,133935628,A,G&fts=all		Gene3D:4.10.800.10,PIRSF_domain:PIRSF001831,PROSITE_patterns:PS00484,PROSITE_profiles:PS51162,SMART_domains:SM00211,Superfamily_domains:SSF57610		Q/R		G	medium	4614/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=1511&re=1565&var=Q1525R	tolerated(0.11)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Gln1525Arg,ENST00000220616,NM_003235.4;TG,missense_variant,p.Gln45Arg,ENST00000519178,;TG,5_prime_UTR_variant,,ENST00000542445,;TG,intron_variant,,ENST00000377869,;TG,3_prime_UTR_variant,,ENST00000523756,;							MODERATE	4574/8307	Q1525R	THYG_HUMAN			Transcript		possibly_damaging(0.563)	.	ENSP00000220616		CCDS34944.1			1	
MAP3K5	0	LGGM	GRCh37	6	136888805	136888805	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	8	.	.	ENST00000359015.4:c.3725A>C	p.Asn1242Thr	p.N1242T	ENST00000359015	NM_005923.3	1242	aAt/aCt	0	1	1	UPI000012EAD5	0	NA	ENST00000359015		ENSG00000197442	6857		22	1.7		HGNC	p.N489T		MAP3K5		SNV							ENST00000355845	protein_coding	getma.org/?cm=var&var=hg19,6,136888805,T,G&fts=all		hmmpanther:PTHR11584,hmmpanther:PTHR11584:SF332		N/T		G	low	4086/5197		getma.org/?cm=msa&ty=f&p=M3K5_HUMAN&rb=1002&re=1372&var=N1242T	tolerated(0.48)	A6NIA0_HUMAN			YES	MAP3K5,missense_variant,p.Asn1242Thr,ENST00000359015,NM_005923.3;MAP3K5,missense_variant,p.Asn489Thr,ENST00000355845,;							MODERATE	3725/4125	N1242T	M3K5_HUMAN			Transcript		benign(0.001)	.	ENSP00000351908		CCDS5179.1			1	
C5	0	LGGM	GRCh37	9	123723821	123723821	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	6	8	.	.	ENST00000223642.1:c.4527T>C	p.Tyr1509=	p.Y1509=	ENST00000223642	NM_001735.2	1509	taT/taC	0	1	1	UPI000013C838	0		ENST00000223642		ENSG00000106804	1331		14			HGNC	p.Y1509Y		C5		SNV			1				ENST00000223642	protein_coding			Gene3D:1ayoA00,Pfam_domain:PF07677,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF83,Superfamily_domains:SSF49410		Y		G		4557/5462							YES	C5,synonymous_variant,p.=,ENST00000223642,NM_001735.2;C5,non_coding_transcript_exon_variant,,ENST00000480188,;							LOW	4527/5031		CO5_HUMAN			Transcript			.	ENSP00000223642		CCDS6826.1			1	
FAN1	0	LGGM	GRCh37	15	31197976	31197976	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	50	8	.	.	ENST00000362065.4:c.1110C>G	p.Thr370=	p.T370=	ENST00000362065	NM_014967.4	370	acC/acG	0	1	1	UPI000006D713	0		ENST00000362065		ENSG00000198690	29170		58			HGNC	p.T370T		FAN1		SNV			1				ENST00000561594	protein_coding			hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749		T		G		1401/4891							YES	FAN1,synonymous_variant,p.=,ENST00000362065,NM_014967.4;FAN1,synonymous_variant,p.=,ENST00000561594,NM_001146095.1;FAN1,synonymous_variant,p.=,ENST00000561607,NM_001146094.1,NM_001146096.1;FAN1,synonymous_variant,p.=,ENST00000565466,;FAN1,intron_variant,,ENST00000562892,;FAN1,synonymous_variant,p.=,ENST00000565280,;							LOW	1110/3054		FAN1_HUMAN			Transcript			.	ENSP00000354497		CCDS32186.1			1	
TTLL7	0	LGGM	GRCh37	1	84403701	84403701	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	20	9	.	.	ENST00000260505.8:c.724-2A>G		p.X242_splice	ENST00000260505	NM_024686.4			0	1	1	UPI000020391D	0		ENST00000260505		ENSG00000137941	26242		29			HGNC	-		TTLL7		SNV							ENST00000480174	protein_coding							C		-/7976							YES	TTLL7,splice_acceptor_variant,,ENST00000260505,NM_024686.4;TTLL7,splice_acceptor_variant,,ENST00000477524,;TTLL7,splice_acceptor_variant,,ENST00000472688,;TTLL7,splice_acceptor_variant,,ENST00000488014,;TTLL7,intron_variant,,ENST00000482783,;TTLL7,splice_acceptor_variant,,ENST00000480174,;TTLL7,splice_acceptor_variant,,ENST00000485638,;TTLL7,intron_variant,,ENST00000474957,;							HIGH	724/2664		TTLL7_HUMAN			Transcript			.	ENSP00000260505		CCDS690.2			1	
HTR2B	0	LGGM	GRCh37	2	231974120	231974120	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	9	.	.	ENST00000258400.3:c.557T>A	p.Ile186Asn	p.I186N	ENST00000258400	NM_000867.4	186	aTt/aAt	0	1	1	UPI0000001C05	0	getma.org/pdb.php?prot=5HT2B_HUMAN&from=71&to=380&var=I186N	ENST00000258400		ENSG00000135914	5294		23	3.925		HGNC	p.I186N		HTR2B		SNV							ENST00000258400	protein_coding	getma.org/?cm=var&var=hg19,2,231974120,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF31,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		I/N		T	high	1070/2246		getma.org/?cm=msa&ty=f&p=5HT2B_HUMAN&rb=71&re=380&var=I186N	deleterious(0)	B3VRD5_HUMAN,B3VRD0_HUMAN,B3VRC5_HUMAN			YES	HTR2B,missense_variant,p.Ile186Asn,ENST00000258400,NM_000867.4;PSMD1,intron_variant,,ENST00000308696,NM_002807.3;PSMD1,intron_variant,,ENST00000373635,NM_001191037.1;PSMD1,intron_variant,,ENST00000409643,;PSMD1,intron_variant,,ENST00000447633,;PSMD1,downstream_gene_variant,,ENST00000488354,;PSMD1,intron_variant,,ENST00000431051,;							MODERATE	557/1446	I186N	5HT2B_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000258400		CCDS2483.1			1	
SLC4A1AP	0	LGGM	GRCh37	2	27886929	27886929	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	9	.	.	ENST00000326019.6:c.310G>A	p.Gly104Arg	p.G104R	ENST00000326019	NM_018158.2	104	Ggg/Agg	0	1	1	UPI000006F66B	0	NA	ENST00000326019		ENSG00000163798	13813		22	-1.39		HGNC	p.G104R		SLC4A1AP		SNV							ENST00000326019	protein_coding	getma.org/?cm=var&var=hg19,2,27886929,G,A&fts=all		hmmpanther:PTHR23308:SF2,hmmpanther:PTHR23308		G/R		A	neutral	592/2959		getma.org/?cm=msa&ty=f&p=NADAP_HUMAN&rb=51&re=188&var=G104R	tolerated(0.55)	B4DV74_HUMAN			YES	SLC4A1AP,missense_variant,p.Gly104Arg,ENST00000326019,NM_018158.2;SUPT7L,upstream_gene_variant,,ENST00000337768,NM_014860.1,NM_001282729.1;SUPT7L,upstream_gene_variant,,ENST00000406540,;SUPT7L,upstream_gene_variant,,ENST00000464789,;SUPT7L,upstream_gene_variant,,ENST00000405491,;SUPT7L,upstream_gene_variant,,ENST00000404798,NM_001282732.1;SLC4A1AP,upstream_gene_variant,,ENST00000427424,;							MODERATE	310/2391	G104R	NADAP_HUMAN			Transcript		benign(0)	.	ENSP00000323837		CCDS33166.1			1	
MTMR14	0	LGGM	GRCh37	3	9730708	9730708	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	9	.	.	ENST00000296003.4:c.1375A>T	p.Ser459Cys	p.S459C	ENST00000296003	NM_001077525.2	459	Agc/Tgc	0	1	1	UPI000007423D	0	NA	ENST00000296003		ENSG00000163719	26190		27	2.175		HGNC	p.S459C		MTMR14		SNV			1				ENST00000351233	protein_coding	getma.org/?cm=var&var=hg19,3,9730708,A,T&fts=all		hmmpanther:PTHR13524		S/C		T	medium	1497/2494		getma.org/?cm=msa&ty=f&p=MTMRE_HUMAN&rb=385&re=584&var=S459C	tolerated(0.07)				YES	MTMR14,missense_variant,p.Ser459Cys,ENST00000296003,NM_001077525.2;MTMR14,missense_variant,p.Ser459Cys,ENST00000353332,NM_001077526.2;MTMR14,missense_variant,p.Ser459Cys,ENST00000351233,NM_022485.4;MTMR14,missense_variant,p.Ser213Cys,ENST00000420925,;MTMR14,downstream_gene_variant,,ENST00000431250,;MTMR14,3_prime_UTR_variant,,ENST00000414996,;MTMR14,3_prime_UTR_variant,,ENST00000447144,;							MODERATE	1375/1953	S459C	MTMRE_HUMAN			Transcript		possibly_damaging(0.514)	.	ENSP00000296003		CCDS43043.1			1	
SOD2	0	LGGM	GRCh37	6	160109179	160109179	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	55	9	.	.	ENST00000538183.2:c.322A>C	p.Asn108His	p.N108H	ENST00000538183	NM_000636.2	108	Aac/Cac	0	1	1	UPI000006D275	0	getma.org/pdb.php?prot=SODM_HUMAN&from=107&to=110&var=N108H	ENST00000538183		ENSG00000112096	11180		64	2.84		HGNC	p.N108H		SOD2		SNV			1				ENST00000538183	protein_coding	getma.org/?cm=var&var=hg19,6,160109179,T,G&fts=all		PIRSF_domain:PIRSF000349,hmmpanther:PTHR11404,hmmpanther:PTHR11404:SF6,Superfamily_domains:SSF46609,Superfamily_domains:SSF54719		N/H		G	medium	483/14266		getma.org/?cm=msa&ty=f&p=SODM_HUMAN&rb=77&re=140&var=N108H	tolerated(0.07)	Q9UG59_HUMAN,F5H3C5_HUMAN,B3KUK2_HUMAN			YES	SOD2,missense_variant,p.Asn108His,ENST00000538183,NM_000636.2;SOD2,missense_variant,p.Asn62His,ENST00000546087,;SOD2,missense_variant,p.Asn108His,ENST00000367055,NM_001024465.1;SOD2,missense_variant,p.Asn108His,ENST00000444946,;SOD2,missense_variant,p.Asn131His,ENST00000545162,;SOD2,missense_variant,p.Asn131His,ENST00000535561,;SOD2,missense_variant,p.Asn62His,ENST00000537657,;SOD2,intron_variant,,ENST00000337404,;SOD2,intron_variant,,ENST00000367054,NM_001024466.1;SOD2,intron_variant,,ENST00000401980,;SOD2,downstream_gene_variant,,ENST00000452684,;SOD2,non_coding_transcript_exon_variant,,ENST00000541573,;SOD2,intron_variant,,ENST00000540491,;SOD2,3_prime_UTR_variant,,ENST00000546260,;SOD2,non_coding_transcript_exon_variant,,ENST00000535459,;							MODERATE	322/669	N108H	SODM_HUMAN			Transcript		benign(0.008)	.	ENSP00000446252		CCDS5265.1			1	
SCAPER	0	LGGM	GRCh37	15	77092642	77092642	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	65	9	.	.	ENST00000563290.1:c.558A>G	p.Pro186=	p.P186=	ENST00000563290		186	ccA/ccG	0	1		UPI0000E59CC3	0		ENST00000324767		ENSG00000140386	13081		74			HGNC	p.P186P		SCAPER		SNV							ENST00000564590	protein_coding			hmmpanther:PTHR31434,hmmpanther:PTHR31434:SF2		P		C		617/4707				H3BTY2_HUMAN,H3BR40_HUMAN,H3BPB0_HUMAN				SCAPER,synonymous_variant,p.=,ENST00000563290,;SCAPER,synonymous_variant,p.=,ENST00000324767,NM_020843.2;SCAPER,synonymous_variant,p.=,ENST00000564590,;SCAPER,synonymous_variant,p.=,ENST00000565970,;SCAPER,synonymous_variant,p.=,ENST00000564177,;SCAPER,synonymous_variant,p.=,ENST00000565372,;SCAPER,synonymous_variant,p.=,ENST00000568382,;SCAPER,5_prime_UTR_variant,,ENST00000538941,NM_001145923.1;SCAPER,upstream_gene_variant,,ENST00000562890,;SCAPER,upstream_gene_variant,,ENST00000567618,;SCAPER,3_prime_UTR_variant,,ENST00000565507,;SCAPER,non_coding_transcript_exon_variant,,ENST00000303521,;SCAPER,upstream_gene_variant,,ENST00000568549,;							LOW	558/4203		SCAPE_HUMAN			Transcript			.	ENSP00000326924		CCDS53962.1			1	
USP9X	0	LGGM	GRCh37	X	41073906	41073906	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	9	.	.	ENST00000324545.8:c.5275A>G	p.Lys1759Glu	p.K1759E	ENST00000324545	NM_001039590.2	1759	Aaa/Gaa	0	1	1	UPI00001AF419	0	getma.org/pdb.php?prot=USP9X_HUMAN&from=1554&to=1953&var=K1759E	ENST00000324545		ENSG00000124486	12632		25	1.4		HGNC	p.K1759E		USP9X		SNV			1				ENST00000324545	protein_coding	getma.org/?cm=var&var=hg19,X,41073906,A,G&fts=all		Superfamily_domains:SSF54001,Pfam_domain:PF00443,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF359,PROSITE_profiles:PS50235		K/E		G	low	5908/12401		getma.org/?cm=msa&ty=f&p=USP9X_HUMAN&rb=1554&re=1953&var=K1759E	deleterious(0)				YES	USP9X,missense_variant,p.Lys1759Glu,ENST00000324545,NM_001039590.2,NM_001039591.2;USP9X,missense_variant,p.Lys1759Glu,ENST00000378308,;USP9X,downstream_gene_variant,,ENST00000487625,;							MODERATE	5275/7713	K1759E	USP9X_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000316357		CCDS43930.1			1	
TNKS1BP1	0	LGGM	GRCh37	11	57077689	57077689	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	11	9	.	.	ENST00000532437.1:c.2496C>T	p.Gly832=	p.G832=	ENST00000532437		832	ggC/ggT	0	1		UPI000013DB72	0		ENST00000358252		ENSG00000149115	19081		20			HGNC	p.G832G		TNKS1BP1		SNV							ENST00000532437	protein_coding			hmmpanther:PTHR22042,hmmpanther:PTHR22042:SF2		G		A		2649/5795				E9PKK0_HUMAN,E9PKE7_HUMAN				TNKS1BP1,synonymous_variant,p.=,ENST00000532437,;TNKS1BP1,synonymous_variant,p.=,ENST00000358252,NM_033396.2;TNKS1BP1,non_coding_transcript_exon_variant,,ENST00000530920,;TNKS1BP1,3_prime_UTR_variant,,ENST00000528882,;							LOW	2496/5190		TB182_HUMAN			Transcript			.	ENSP00000350990		CCDS7951.1			1	
ARHGEF33	0	LGGM	GRCh37	2	39156904	39156904	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	79	9	.	.	ENST00000409978.1:c.295G>T	p.Glu99Ter	p.E99*	ENST00000409978		99	Gaa/Taa	0	1	1	UPI000188157A	0	NA	ENST00000409978		ENSG00000214694	37252		88	0		HGNC	p.E99X	COSM3426429,COSM3426428	ARHGEF33		SNV						1,1	ENST00000536934	protein_coding	getma.org/?cm=var&var=hg19,2,39156904,G,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF16		E/*		T	NA	560/4484		NA					YES	ARHGEF33,stop_gained,p.Glu99Ter,ENST00000409978,;ARHGEF33,stop_gained,p.Glu99Ter,ENST00000398800,NM_001145451.2;ARHGEF33,stop_gained,p.Glu99Ter,ENST00000536934,;ARHGEF33,non_coding_transcript_exon_variant,,ENST00000488692,;MORN2,downstream_gene_variant,,ENST00000441049,;					1,1		HIGH	295/2613	E99*	ARG33_HUMAN			Transcript			.	ENSP00000387020		CCDS46263.2			1	
POLR2C	0	LGGM	GRCh37	16	57499882	57499882	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	9	.	.	ENST00000219252.5:c.154A>T	p.Ile52Phe	p.I52F	ENST00000219252	NM_032940.2	52	Att/Ttt	0	1	1	UPI00000012C1	0	getma.org/pdb.php?prot=RPB3_HUMAN&from=50&to=177&var=I52F	ENST00000219252		ENSG00000102978	9189		35	1.33		HGNC	p.I52F		POLR2C		SNV							ENST00000219252	protein_coding	getma.org/?cm=var&var=hg19,16,57499882,A,T&fts=all		Gene3D:2.170.120.12,Pfam_domain:PF01000,Pfam_domain:PF01193,PROSITE_patterns:PS00446,hmmpanther:PTHR11800,SMART_domains:SM00662,Superfamily_domains:SSF56553		I/F		T	low	492/2057		getma.org/?cm=msa&ty=f&p=RPB3_HUMAN&rb=50&re=177&var=I52F	tolerated(0.23)	Q6FGR6_HUMAN			YES	POLR2C,missense_variant,p.Ile52Phe,ENST00000219252,NM_032940.2;COQ9,downstream_gene_variant,,ENST00000262507,NM_020312.3;COQ9,downstream_gene_variant,,ENST00000567072,;COQ9,downstream_gene_variant,,ENST00000563166,;POLR2C,non_coding_transcript_exon_variant,,ENST00000564651,;AC009052.12,downstream_gene_variant,,ENST00000567090,;POLR2C,3_prime_UTR_variant,,ENST00000562599,;POLR2C,non_coding_transcript_exon_variant,,ENST00000567982,;POLR2C,non_coding_transcript_exon_variant,,ENST00000563115,;POLR2C,non_coding_transcript_exon_variant,,ENST00000562953,;POLR2C,non_coding_transcript_exon_variant,,ENST00000563589,;COQ9,downstream_gene_variant,,ENST00000569980,;POLR2C,downstream_gene_variant,,ENST00000564626,;							MODERATE	154/828	I52F	RPB3_HUMAN			Transcript		benign(0.33)	.	ENSP00000219252		CCDS10782.1			1	
TOPAZ1	0	LGGM	GRCh37	3	44284696	44284696	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	10	.	.	ENST00000309765.4:c.698C>T	p.Pro233Leu	p.P233L	ENST00000309765	NM_001145030.1	233	cCc/cTc	0	1	1	UPI000047FF75	0	NA	ENST00000309765		ENSG00000173769	24746		24	0		HGNC	p.P233L		TOPAZ1		SNV							ENST00000309765	protein_coding	getma.org/?cm=var&var=hg19,3,44284696,C,T&fts=all				P/L		T	neutral	866/5334		getma.org/?cm=msa&ty=f&p=TOPZ1_HUMAN&rb=201&re=400&var=P233L	tolerated(0.7)				YES	TOPAZ1,missense_variant,p.Pro233Leu,ENST00000309765,NM_001145030.1;							MODERATE	698/5079	P233L	TOPZ1_HUMAN			Transcript		benign(0.034)	.	ENSP00000310303		CCDS46809.1			1	
WNT16	0	LGGM	GRCh37	7	120969644	120969644	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	29	10	.	.	ENST00000222462.2:c.119G>A	p.Gly40Glu	p.G40E	ENST00000222462	NM_057168.1	40	gGg/gAg	0	1	1	UPI000005104C	0	NA	ENST00000222462		ENSG00000002745	16267		39	0		HGNC	p.G40E		WNT16		SNV							ENST00000222462	protein_coding	getma.org/?cm=var&var=hg19,7,120969644,G,A&fts=all		hmmpanther:PTHR12027,hmmpanther:PTHR12027:SF70,Prints_domain:PR01895		G/E		A	neutral	409/3147		getma.org/?cm=msa&ty=f&p=WNT16_HUMAN&rb=1&re=45&var=G40E	deleterious(0)				YES	WNT16,missense_variant,p.Gly40Glu,ENST00000222462,NM_057168.1;WNT16,missense_variant,p.Gly30Glu,ENST00000361301,NM_016087.2;							MODERATE	119/1098	G40E	WNT16_HUMAN			Transcript		possibly_damaging(0.642)	.	ENSP00000222462		CCDS5781.1			1	
MYO18A	0	LGGM	GRCh37	17	27419438	27419438	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	10	.	.	ENST00000527372.1:c.5110A>T	p.Lys1704Ter	p.K1704*	ENST00000527372	NM_078471.3	1704	Aaa/Taa	0	1	1	UPI0000167F32	0	NA	ENST00000527372		ENSG00000196535	31104		36	0		HGNC	p.K1704X		MYO18A		SNV							ENST00000531253	protein_coding	getma.org/?cm=var&var=hg19,17,27419438,T,A&fts=all		Pfam_domain:PF01576,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF293		K/*		A	NA	5291/7597		NA					YES	MYO18A,stop_gained,p.Lys1704Ter,ENST00000527372,NM_078471.3;MYO18A,stop_gained,p.Lys1704Ter,ENST00000354329,;MYO18A,stop_gained,p.Lys1667Ter,ENST00000533112,;MYO18A,stop_gained,p.Lys1704Ter,ENST00000531253,NM_203318.1;TIAF1,upstream_gene_variant,,ENST00000408971,;MYO18A,upstream_gene_variant,,ENST00000529578,;MYO18A,upstream_gene_variant,,ENST00000546105,;MYO18A,upstream_gene_variant,,ENST00000531892,;MYO18A,3_prime_UTR_variant,,ENST00000530254,;MYO18A,downstream_gene_variant,,ENST00000530557,;MYO18A,upstream_gene_variant,,ENST00000529889,;MYO18A,upstream_gene_variant,,ENST00000531438,;MYO18A,downstream_gene_variant,,ENST00000533652,;							HIGH	5110/6165	K1704*	MY18A_HUMAN			Transcript			.	ENSP00000437073		CCDS45642.1			1	
NPFFR2	0	LGGM	GRCh37	4	73013201	73013201	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	10	.	.	ENST00000308744.6:c.1241T>C	p.Ile414Thr	p.I414T	ENST00000308744	NM_004885.2	414	aTc/aCc	0	1	1	UPI000012FFBD	0	getma.org/pdb.php?prot=NPFF2_HUMAN&from=164&to=435&var=I414T	ENST00000308744		ENSG00000056291	4525		37	1.78		HGNC	p.I414T		NPFFR2		SNV							ENST00000308744	protein_coding	getma.org/?cm=var&var=hg19,4,73013201,T,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF3,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR01570		I/T		C	low	1339/1922		getma.org/?cm=msa&ty=f&p=NPFF2_HUMAN&rb=164&re=435&var=I414T	tolerated(0.06)	A0PJM9_HUMAN			YES	NPFFR2,missense_variant,p.Ile414Thr,ENST00000308744,NM_004885.2;NPFFR2,missense_variant,p.Ile315Thr,ENST00000395999,NM_001144756.1;NPFFR2,missense_variant,p.Ile312Thr,ENST00000358749,NM_053036.2;NPFFR2,3_prime_UTR_variant,,ENST00000344413,;NPFFR2,non_coding_transcript_exon_variant,,ENST00000506359,;							MODERATE	1241/1569	I414T	NPFF2_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000307822		CCDS3551.1			1	
GP2	0	LGGM	GRCh37	16	20327352	20327352	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	10	.	.	ENST00000381362.4:c.1436G>T	p.Arg479Ile	p.R479I	ENST00000381362	NM_001007240.1	479	aGa/aTa	0	1	1	UPI000059D333	0	NA	ENST00000381362		ENSG00000169347	4441		25	1.995		HGNC	p.R332I		GP2		SNV							ENST00000381360	protein_coding	getma.org/?cm=var&var=hg19,16,20327352,C,A&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF129,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241		R/I		A	medium	1513/2425		getma.org/?cm=msa&ty=f&p=GP2_HUMAN&rb=228&re=480&var=R479I	tolerated(0.15)	I3L2Z7_HUMAN			YES	GP2,missense_variant,p.Arg476Ile,ENST00000302555,;GP2,missense_variant,p.Arg479Ile,ENST00000381362,NM_001007240.1,NM_001502.2;GP2,missense_variant,p.Arg332Ile,ENST00000381360,NM_001007241.1;GP2,missense_variant,p.Arg329Ile,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,;							MODERATE	1436/1614	R479I	GP2_HUMAN			Transcript		benign(0.309)	.	ENSP00000370767		CCDS42128.1			1	
ZNF721	0	LGGM	GRCh37	4	436830	436830	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	74	10	.	.	ENST00000511833.2:c.1426A>G	p.Lys476Glu	p.K476E	ENST00000511833	NM_133474.3	476	Aag/Gag	0	1		UPI000020B95C	0	getma.org/pdb.php?prot=ZN721_HUMAN&from=447&to=472&var=K464E	ENST00000338977		ENSG00000182903	29425		84	0.095		HGNC	p.K476E		ZNF721		SNV							ENST00000511833	protein_coding	getma.org/?cm=var&var=hg19,4,436830,T,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/E		C	neutral	1439/4492		getma.org/?cm=msa&ty=f&p=ZN721_HUMAN&rb=427&re=492&var=K464E	tolerated(1)					ZNF721,missense_variant,p.Lys464Glu,ENST00000338977,;ZNF721,missense_variant,p.Lys476Glu,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,;							MODERATE	1390/2736	K464E	ZN721_HUMAN			Transcript		benign(0.003)	.	ENSP00000340524					1	
FN3K	0	LGGM	GRCh37	17	80696436	80696436	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	9	10	.	.	ENST00000300784.7:c.213G>C	p.Pro71=	p.P71=	ENST00000300784	NM_022158.3	71	ccG/ccC	0	1	1	UPI000000D9F6	0		ENST00000300784		ENSG00000167363	24822		19			HGNC	p.P71P		FN3K		SNV							ENST00000300784	protein_coding			Pfam_domain:PF03881,PIRSF_domain:PIRSF006221,hmmpanther:PTHR12149,hmmpanther:PTHR12149:SF7,Superfamily_domains:SSF56112		P		C		275/1434							YES	FN3K,synonymous_variant,p.=,ENST00000300784,NM_022158.3;RP11-388C12.5,upstream_gene_variant,,ENST00000570919,;FN3K,downstream_gene_variant,,ENST00000572813,;FN3K,non_coding_transcript_exon_variant,,ENST00000570734,;FN3K,non_coding_transcript_exon_variant,,ENST00000574496,;FN3K,non_coding_transcript_exon_variant,,ENST00000573841,;							LOW	213/930		FN3K_HUMAN			Transcript			.	ENSP00000300784		CCDS11818.1			1	
ASH1L	0	LGGM	GRCh37	1	155319167	155319167	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	66	10	.	.	ENST00000392403.3:c.7505C>G	p.Thr2502Arg	p.T2502R	ENST00000392403	NM_018489.2	2502	aCa/aGa	0	1		UPI000013D5D2	0	getma.org/pdb.php?prot=ASH1L_HUMAN&from=2453&to=2538&var=T2507R	ENST00000368346		ENSG00000116539	19088		76	2.24		HGNC	p.T2507R		ASH1L		SNV							ENST00000368346	protein_coding	getma.org/?cm=var&var=hg19,1,155319167,G,C&fts=all		PROSITE_profiles:PS50014,Pfam_domain:PF00439,Gene3D:1.20.920.10,SMART_domains:SM00297,Superfamily_domains:SSF47370		T/R		C	medium	8160/11942		getma.org/?cm=msa&ty=f&p=ASH1L_HUMAN&rb=2453&re=2538&var=T2507R	deleterious_low_confidence(0.01)					ASH1L,missense_variant,p.Thr2507Arg,ENST00000368346,;ASH1L,missense_variant,p.Thr2502Arg,ENST00000392403,NM_018489.2;MIR555,upstream_gene_variant,,ENST00000384987,;ASH1L,upstream_gene_variant,,ENST00000492987,;ASH1L,upstream_gene_variant,,ENST00000478837,;ASH1L,upstream_gene_variant,,ENST00000548566,;							MODERATE	7520/8910	T2507R	ASH1L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000357330					1	
HAPLN3	0	LGGM	GRCh37	15	89421351	89421351	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	40	10	.	.	ENST00000359595.3:c.933C>T	p.Cys311=	p.C311=	ENST00000359595	NM_178232.2	311	tgC/tgT	0	1	1	UPI0000048EB3	0		ENST00000359595		ENSG00000140511	21446	0.000173	50			HGNC	p.C311C	rs374662292,COSM3741718	HAPLN3		SNV	A:0.0005			0.000192		0,1	ENST00000359595	protein_coding			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		C	A:0	A		1148/1980	1.50E-05						YES	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,;	0.000116				0,1		LOW	933/1083		HPLN3_HUMAN			Transcript			.	ENSP00000352606	4.94E-05	CCDS10346.1			1	
DST	0	LGGM	GRCh37	6	56347553	56347553	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	87	11	.	.	ENST00000244364.6:c.13461A>C	p.Leu4487Phe	p.L4487F	ENST00000244364	NM_015548.4	4487	ttA/ttC	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		98	2.9		HGNC	p.L4487F		DST		SNV			1				ENST00000244364	protein_coding	getma.org/?cm=var&var=hg19,6,56347553,T,G&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,SMART_domains:SM00150,Superfamily_domains:SSF46966		L/F		G	medium	13669/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=6816&re=6919&var=L6899F		Q86T18_HUMAN			YES	DST,missense_variant,p.Leu7079Phe,ENST00000370754,;DST,missense_variant,p.Leu6901Phe,ENST00000370769,;DST,missense_variant,p.Leu6575Phe,ENST00000446842,;DST,missense_variant,p.Leu6790Phe,ENST00000361203,;DST,missense_variant,p.Leu4704Phe,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,missense_variant,p.Leu4813Phe,ENST00000421834,;DST,missense_variant,p.Leu4487Phe,ENST00000244364,NM_015548.4;DST,3_prime_UTR_variant,,ENST00000312431,;DST,downstream_gene_variant,,ENST00000487754,;DST,upstream_gene_variant,,ENST00000517840,;							MODERATE	13461/15516	L6899F	DYST_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000244364		CCDS47443.1			1	
GLI3	0	LGGM	GRCh37	7	42005149	42005149	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	11	.	.	ENST00000395925.3:c.3522C>A	p.Ser1174=	p.S1174=	ENST00000395925	NM_000168.5	1174	tcC/tcA	0	1	1	UPI000020EE4C	0		ENST00000395925		ENSG00000106571	4319		33			HGNC	p.S1174S		GLI3		SNV			1				ENST00000395925	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR19818:SF5,hmmpanther:PTHR19818		S		T		3607/8208				C9J9N4_HUMAN			YES	GLI3,synonymous_variant,p.=,ENST00000395925,NM_000168.5;GLI3,non_coding_transcript_exon_variant,,ENST00000479210,;							LOW	3522/4743		GLI3_HUMAN			Transcript			.	ENSP00000379258		CCDS5465.1			1	
ARNT	0	LGGM	GRCh37	1	150811955	150811955	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	61	11	.	.	ENST00000358595.5:c.448A>G	p.Thr150Ala	p.T150A	ENST00000358595	NM_178427.2	150	Act/Gct	0	1	1	UPI0000030984	0	getma.org/pdb.php?prot=ARNT_HUMAN&from=144&to=162&var=T150A	ENST00000358595		ENSG00000143437	700		72	1.185		HGNC	p.T150A		ARNT		SNV							ENST00000471844	protein_coding	getma.org/?cm=var&var=hg19,1,150811955,T,C&fts=all		hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF50,Superfamily_domains:SSF47459		T/A		C	low	649/4887		getma.org/?cm=msa&ty=f&p=ARNT_HUMAN&rb=114&re=192&var=T150A	tolerated(0.34)				YES	ARNT,missense_variant,p.Thr150Ala,ENST00000358595,NM_178427.2,NM_001197325.1,NM_001668.3;ARNT,missense_variant,p.Thr150Ala,ENST00000354396,NM_001286036.1;ARNT,missense_variant,p.Thr141Ala,ENST00000515192,NM_001286035.1;ARNT,missense_variant,p.Thr135Ala,ENST00000505755,;ARNT,non_coding_transcript_exon_variant,,ENST00000497108,;ARNT,upstream_gene_variant,,ENST00000468970,;ARNT,missense_variant,p.Thr150Ala,ENST00000471844,;ARNT,non_coding_transcript_exon_variant,,ENST00000505979,;ARNT,downstream_gene_variant,,ENST00000504358,;ARNT,upstream_gene_variant,,ENST00000512296,;							MODERATE	448/2370	T150A	ARNT_HUMAN			Transcript		benign(0.001)	.	ENSP00000351407		CCDS970.1			1	
CUBN	0	LGGM	GRCh37	10	16941038	16941038	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	39	11	.	.	ENST00000377833.4:c.8555T>C	p.Leu2852Pro	p.L2852P	ENST00000377833	NM_001081.3	2852	cTa/cCa	0	1	1	UPI00001AE8F4	0	getma.org/pdb.php?prot=CUBN_HUMAN&from=2805&to=2916&var=L2852P	ENST00000377833		ENSG00000107611	2548		50	2.22		HGNC	p.L2852P		CUBN		SNV			1				ENST00000377833	protein_coding	getma.org/?cm=var&var=hg19,10,16941038,A,G&fts=all		Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,SMART_domains:SM00042,Superfamily_domains:SSF49854		L/P		G	medium	8621/11949		getma.org/?cm=msa&ty=f&p=CUBN_HUMAN&rb=2805&re=2916&var=L2852P	tolerated(0.24)	B3KQA6_HUMAN			YES	CUBN,missense_variant,p.Leu2852Pro,ENST00000377833,NM_001081.3;							MODERATE	8555/10872	L2852P	CUBN_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000367064		CCDS7113.1			1	
WDR70	0	LGGM	GRCh37	5	37438052	37438052	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	11	.	.	ENST00000265107.4:c.521A>T	p.His174Leu	p.H174L	ENST00000265107	NM_018034.2	174	cAt/cTt	0	1	1	UPI0000049FC2	0	NA	ENST00000265107		ENSG00000082068	25495		30	1.44		HGNC	p.H174L		WDR70		SNV							ENST00000504564	protein_coding	getma.org/?cm=var&var=hg19,5,37438052,A,T&fts=all		Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR16017,hmmpanther:PTHR16017:SF0		H/L		T	low	677/2983		getma.org/?cm=msa&ty=f&p=WDR70_HUMAN&rb=173&re=210&var=H174L	deleterious(0.02)				YES	WDR70,missense_variant,p.His174Leu,ENST00000265107,NM_018034.2;WDR70,missense_variant,p.His174Leu,ENST00000504564,;WDR70,non_coding_transcript_exon_variant,,ENST00000511906,;							MODERATE	521/1965	H174L	WDR70_HUMAN			Transcript		probably_damaging(0.922)	.	ENSP00000265107		CCDS34147.1			1	
MACROD2	0	LGGM	GRCh37	20	15843442	15843442	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	19	11	.	.	ENST00000217246.4:c.698A>C	p.Lys233Thr	p.K233T	ENST00000217246	NM_080676.5	233	aAa/aCa	0	1	1	UPI00005B2E12	0	getma.org/pdb.php?prot=MACD2_HUMAN&from=59&to=240&var=K233T	ENST00000217246		ENSG00000172264	16126		30	1.345		HGNC	p.K233T		MACROD2		SNV							ENST00000217246	protein_coding	getma.org/?cm=var&var=hg19,20,15843442,A,C&fts=all		PROSITE_profiles:PS51154,hmmpanther:PTHR11106,hmmpanther:PTHR11106:SF54,Gene3D:3.40.220.10,Superfamily_domains:SSF52949		K/T		C	low	1093/4994		getma.org/?cm=msa&ty=f&p=MACD2_HUMAN&rb=59&re=240&var=K233T	deleterious(0.03)				YES	MACROD2,missense_variant,p.Lys233Thr,ENST00000217246,NM_080676.5;MACROD2,missense_variant,p.Lys233Thr,ENST00000310348,;MACROD2,5_prime_UTR_variant,,ENST00000402914,NM_001033087.1;MACROD2,upstream_gene_variant,,ENST00000378058,;							MODERATE	698/1278	K233T	MACD2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000217246		CCDS13120.2			1	
ARL4A	0	LGGM	GRCh37	7	12727992	12727992	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	64	11	.	.	ENST00000396663.1:c.113A>G	p.Tyr38Cys	p.Y38C	ENST00000396663	NM_005738.4	38	tAc/tGc	0	1		UPI000005273E	0	getma.org/pdb.php?prot=ARL4A_HUMAN&from=8&to=186&var=Y38C	ENST00000356797		ENSG00000122644	695		75	3.65		HGNC	p.Y38C		ARL4A		SNV							ENST00000439721	protein_coding	getma.org/?cm=var&var=hg19,7,12727992,A,G&fts=all		Prints_domain:PR00449,Superfamily_domains:SSF52540,SMART_domains:SM00173,SMART_domains:SM00178,SMART_domains:SM00175,SMART_domains:SM00177,TIGRFAM_domain:TIGR00231,Gene3D:3.40.50.300,Pfam_domain:PF00025,hmmpanther:PTHR11711:SF139,hmmpanther:PTHR11711,PROSITE_profiles:PS51417		Y/C		G	high	338/1147		getma.org/?cm=msa&ty=f&p=ARL4A_HUMAN&rb=8&re=186&var=Y38C	deleterious(0.02)	C9J7Q9_HUMAN				ARL4A,missense_variant,p.Tyr38Cys,ENST00000396663,NM_005738.4,NM_001195396.1,NM_001037164.2,NM_212460.3;ARL4A,missense_variant,p.Tyr38Cys,ENST00000396662,;ARL4A,missense_variant,p.Tyr38Cys,ENST00000356797,;ARL4A,missense_variant,p.Tyr38Cys,ENST00000396664,;ARL4A,missense_variant,p.Tyr38Cys,ENST00000439721,;ARL4A,missense_variant,p.Tyr38Cys,ENST00000404894,;CTD-2320J21.1,downstream_gene_variant,,ENST00000604949,;							MODERATE	113/603	Y38C	ARL4A_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000349250		CCDS5359.1			1	
AKAP3	0	LGGM	GRCh37	12	4735772	4735772	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	38	11	.	.	ENST00000545990.2:c.2296G>A	p.Asp766Asn	p.D766N	ENST00000545990	NM_001278309.1	766	Gac/Aac	0	1		UPI000013C8DF	0	NA	ENST00000228850		ENSG00000111254	373		49	1.53		HGNC	p.D766N		AKAP3		SNV							ENST00000545990	protein_coding	getma.org/?cm=var&var=hg19,12,4735772,C,T&fts=all		hmmpanther:PTHR10226,hmmpanther:PTHR10226:SF9,Pfam_domain:PF05716,SMART_domains:SM00807		D/N		T	low	2525/3019		getma.org/?cm=msa&ty=f&p=AKAP3_HUMAN&rb=166&re=853&var=D766N	tolerated(0.21)	F5H7P4_HUMAN,F5H2S4_HUMAN				AKAP3,missense_variant,p.Asp766Asn,ENST00000545990,NM_001278309.1,NM_006422.3;AKAP3,missense_variant,p.Asp766Asn,ENST00000228850,;AKAP3,downstream_gene_variant,,ENST00000540967,;AKAP3,downstream_gene_variant,,ENST00000536414,;RP11-500M8.7,intron_variant,,ENST00000536588,;							MODERATE	2296/2562	D766N	AKAP3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000228850		CCDS8531.1			1	
NUP214	0	LGGM	GRCh37	9	134072952	134072952	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	41	11	.	.	ENST00000359428.5:c.4071A>T	p.Leu1357=	p.L1357=	ENST00000359428	NM_005085.3	1357	ctA/ctT	0	1	1	UPI00001BBB2F	0		ENST00000359428		ENSG00000126883	8064		52			HGNC	p.L183L		NUP214		SNV			1				ENST00000483497	protein_coding			hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF21		L		T		4215/7600				H0YDI2_HUMAN,E9PS86_HUMAN			YES	NUP214,synonymous_variant,p.=,ENST00000359428,NM_005085.3;NUP214,synonymous_variant,p.=,ENST00000411637,;NUP214,synonymous_variant,p.=,ENST00000451030,;NUP214,synonymous_variant,p.=,ENST00000483497,;NUP214,synonymous_variant,p.=,ENST00000531600,;RP11-544A12.8,upstream_gene_variant,,ENST00000502188,;NUP214,non_coding_transcript_exon_variant,,ENST00000465486,;NUP214,non_coding_transcript_exon_variant,,ENST00000470765,;NUP214,non_coding_transcript_exon_variant,,ENST00000528114,;NUP214,intron_variant,,ENST00000529286,;NUP214,downstream_gene_variant,,ENST00000531929,;NUP214,synonymous_variant,p.=,ENST00000453861,;NUP214,non_coding_transcript_exon_variant,,ENST00000525384,;NUP214,downstream_gene_variant,,ENST00000525980,;NUP214,downstream_gene_variant,,ENST00000524578,;							LOW	4071/6273		NU214_HUMAN			Transcript			.	ENSP00000352400		CCDS6940.1			1	
ADPRHL1	0	LGGM	GRCh37	13	114098821	114098821	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	98	11	.	.	ENST00000375418.3:c.298G>T	p.Asp100Tyr	p.D100Y	ENST00000375418	NM_138430.3	100	Gac/Tac	0	1	1	UPI000004A1F3	0	getma.org/pdb.php?prot=ARHL1_HUMAN&from=6&to=329&var=D100Y	ENST00000375418		ENSG00000153531	21303		109	2.4		HGNC	p.D18Y		ADPRHL1		SNV							ENST00000413169	protein_coding	getma.org/?cm=var&var=hg19,13,114098821,C,A&fts=all		Pfam_domain:PF03747,PIRSF_domain:PIRSF016939,Superfamily_domains:0043888		D/Y		A	medium	385/1341		getma.org/?cm=msa&ty=f&p=ARHL1_HUMAN&rb=6&re=329&var=D100Y	deleterious(0)				YES	ADPRHL1,missense_variant,p.Asp18Tyr,ENST00000356501,NM_199162.1;ADPRHL1,missense_variant,p.Asp100Tyr,ENST00000375418,NM_138430.3;ADPRHL1,missense_variant,p.Asp18Tyr,ENST00000413169,;							MODERATE	298/1065	D100Y	ARHL1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000364567		CCDS9535.1			1	
COL4A3BP	0	LGGM	GRCh37	5	74706888	74706888	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	54	11	.	.	ENST00000380494.5:c.1262A>G	p.Asn421Ser	p.N421S	ENST00000380494	NM_001130105.1	421	aAt/aGt	0	1		UPI0000126C1D	0	getma.org/pdb.php?prot=C43BP_HUMAN&from=118&to=317&var=N293S	ENST00000405807		ENSG00000113163	2205		65	-0.895		HGNC	p.N293S		COL4A3BP		SNV			1				ENST00000261415	protein_coding	getma.org/?cm=var&var=hg19,5,74706888,T,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10219:SF31,hmmpanther:PTHR10219		N/S		C	neutral	1300/2843		getma.org/?cm=msa&ty=f&p=C43BP_HUMAN&rb=118&re=317&var=N293S	tolerated(1)					COL4A3BP,missense_variant,p.Asn421Ser,ENST00000380494,NM_001130105.1;COL4A3BP,missense_variant,p.Asn293Ser,ENST00000405807,NM_005713.2;COL4A3BP,missense_variant,p.Asn293Ser,ENST00000261415,NM_031361.2;							MODERATE	878/1875	N293S	C43BP_HUMAN			Transcript		benign(0.001)	.	ENSP00000383996		CCDS4028.1			1	
CHRNA3	0	LGGM	GRCh37	15	78889043	78889043	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	12	.	.	ENST00000326828.5:c.1421T>C	p.Val474Ala	p.V474A	ENST00000326828	NM_000743.4	474	gTg/gCg	0	1	1	UPI000013D783	0	NA	ENST00000326828		ENSG00000080644	1957		25	3.03		HGNC	p.V474A		CHRNA3		SNV			1				ENST00000326828	protein_coding	getma.org/?cm=var&var=hg19,15,78889043,A,G&fts=all		hmmpanther:PTHR18945:SF445,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,Gene3D:1.20.120.370,Superfamily_domains:SSF90112		V/A		G	medium	1806/3202		getma.org/?cm=msa&ty=f&p=ACHA3_HUMAN&rb=248&re=495&var=V474A	deleterious(0)	Q6EWN2_HUMAN,B4DP53_HUMAN			YES	CHRNA3,missense_variant,p.Val474Ala,ENST00000326828,NM_000743.4;CHRNA3,intron_variant,,ENST00000348639,NM_001166694.1;CHRNA5,downstream_gene_variant,,ENST00000299565,NM_000745.3;CHRNA5,downstream_gene_variant,,ENST00000559554,;CHRNA5,downstream_gene_variant,,ENST00000559576,;CHRNA5,downstream_gene_variant,,ENST00000394802,;CHRNA3,non_coding_transcript_exon_variant,,ENST00000559002,;CHRNA3,missense_variant,p.Val474Ala,ENST00000559658,;							MODERATE	1421/1518	V474A	ACHA3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000315602		CCDS10305.1			1	
EHBP1L1	0	LGGM	GRCh37	11	65350613	65350613	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	12	.	.	ENST00000309295.4:c.2470A>G	p.Ile824Val	p.I824V	ENST00000309295	NM_001099409.1	824	Ata/Gta	0	1	1	UPI00001605A9	0	NA	ENST00000309295		ENSG00000173442	30682		27	0.345		HGNC	p.I824V		EHBP1L1		SNV							ENST00000309295	protein_coding	getma.org/?cm=var&var=hg19,11,65350613,A,G&fts=all		hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF112		I/V		G	neutral	2735/5185		getma.org/?cm=msa&ty=f&p=EH1L1_HUMAN&rb=201&re=1029&var=I824V	tolerated(0.46)				YES	EHBP1L1,missense_variant,p.Ile824Val,ENST00000309295,NM_001099409.1;EHBP1L1,intron_variant,,ENST00000533237,;EHBP1L1,intron_variant,,ENST00000533465,;EHBP1L1,upstream_gene_variant,,ENST00000529099,;EHBP1L1,downstream_gene_variant,,ENST00000531106,;EHBP1L1,non_coding_transcript_exon_variant,,ENST00000526990,;							MODERATE	2470/4572	I824V	EH1L1_HUMAN			Transcript		benign(0.007)	.	ENSP00000312671		CCDS44649.1			1	
NIPSNAP1	0	LGGM	GRCh37	22	29954917	29954917	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	23	12	.	.	ENST00000216121.7:c.732G>A	p.Glu244=	p.E244=	ENST00000216121	NM_001202502.1	244	gaG/gaA	0	1	1	UPI00001303FF	0		ENST00000216121		ENSG00000184117	7827		35			HGNC	p.E244E		NIPSNAP1		SNV							ENST00000216121	protein_coding			hmmpanther:PTHR21017:SF11,hmmpanther:PTHR21017,Pfam_domain:PF07978,Gene3D:3.30.70.900,Superfamily_domains:SSF54909		E		T		987/2237				C9JDV8_HUMAN			YES	NIPSNAP1,synonymous_variant,p.=,ENST00000216121,NM_001202502.1,NM_003634.3;THOC5,upstream_gene_variant,,ENST00000418021,;NIPSNAP1,downstream_gene_variant,,ENST00000415100,;NIPSNAP1,downstream_gene_variant,,ENST00000437094,;THOC5,upstream_gene_variant,,ENST00000442555,;NIPSNAP1,downstream_gene_variant,,ENST00000455496,;							LOW	732/855		NIPS1_HUMAN			Transcript			.	ENSP00000216121		CCDS13860.1			1	
PIGW	0	LGGM	GRCh37	17	34893634	34893634	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	48	12	.	.	ENST00000592983.1:c.684T>C	p.His228=	p.H228=	ENST00000592983		228	caT/caC	0	1	1	UPI00001984EA	0		ENST00000592983		ENSG00000184886	23213		60			HGNC	p.H228H		PIGW		SNV							ENST00000592983	protein_coding			hmmpanther:PTHR20661,PIRSF_domain:PIRSF017321		H		C		1264/2333				C9JLC8_HUMAN			YES	PIGW,synonymous_variant,p.=,ENST00000592983,;PIGW,synonymous_variant,p.=,ENST00000328396,NM_178517.3;PIGW,synonymous_variant,p.=,ENST00000429467,;MYO19,upstream_gene_variant,,ENST00000431794,NM_001163735.1;MYO19,upstream_gene_variant,,ENST00000268852,NM_025109.5;MYO19,upstream_gene_variant,,ENST00000586007,NM_001033580.2;MYO19,upstream_gene_variant,,ENST00000544606,;MYO19,upstream_gene_variant,,ENST00000585719,;MYO19,upstream_gene_variant,,ENST00000589404,;MYO19,upstream_gene_variant,,ENST00000586886,;MYO19,upstream_gene_variant,,ENST00000585818,;MYO19,intron_variant,,ENST00000590081,;MYO19,intron_variant,,ENST00000586879,;MYO19,upstream_gene_variant,,ENST00000592380,;MYO19,upstream_gene_variant,,ENST00000588664,;MYO19,upstream_gene_variant,,ENST00000586908,;MYO19,upstream_gene_variant,,ENST00000591794,;							LOW	684/1515		PIGW_HUMAN			Transcript			.	ENSP00000468778		CCDS11313.1			1	
ZNF721	0	LGGM	GRCh37	4	436859	436859	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	57	12	.	.	ENST00000511833.2:c.1397T>G	p.Ile466Ser	p.I466S	ENST00000511833	NM_133474.3	466	aTt/aGt	0	1		UPI000020B95C	0	getma.org/pdb.php?prot=ZN721_HUMAN&from=447&to=472&var=I454S	ENST00000338977		ENSG00000182903	29425		69	1.645		HGNC	p.I466S		ZNF721		SNV							ENST00000511833	protein_coding	getma.org/?cm=var&var=hg19,4,436859,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF16,SMART_domains:SM00355,Superfamily_domains:SSF57667		I/S		C	low	1410/4492		getma.org/?cm=msa&ty=f&p=ZN721_HUMAN&rb=427&re=492&var=I454S	deleterious(0.01)					ZNF721,missense_variant,p.Ile454Ser,ENST00000338977,;ZNF721,missense_variant,p.Ile466Ser,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,;							MODERATE	1361/2736	I454S	ZN721_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000340524					1	
C3	0	LGGM	GRCh37	19	6714235	6714235	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	12	.	.	ENST00000245907.6:c.624C>G	p.Ala208=	p.A208=	ENST00000245907	NM_000064.2	208	gcC/gcG	0	1	1	UPI000013EC9B	0		ENST00000245907		ENSG00000125730	1318		28			HGNC	p.A208A		C3		SNV			1				ENST00000245907	protein_coding			Pfam_domain:PF01835,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF81		A		C		717/5263				Q6LDJ0_HUMAN,M0R1Q1_HUMAN			YES	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,;							LOW	624/4992		CO3_HUMAN			Transcript			.	ENSP00000245907		CCDS32883.1			1	
GPATCH8	0	LGGM	GRCh37	17	42476855	42476855	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	29	12	.	.	ENST00000591680.1:c.2590C>A	p.Arg864Ser	p.R864S	ENST00000591680	NM_001002909.2	864	Cgt/Agt	0	1	1	UPI0000237985	0	NA	ENST00000591680		ENSG00000186566	29066		41	0.345		HGNC	p.R864S		GPATCH8		SNV							ENST00000591680	protein_coding	getma.org/?cm=var&var=hg19,17,42476855,G,T&fts=all		hmmpanther:PTHR17614,hmmpanther:PTHR17614:SF11,Low_complexity_(Seg):seg		R/S		T	neutral	2621/4692		getma.org/?cm=msa&ty=f&p=GPTC8_HUMAN&rb=764&re=963&var=R864S	tolerated_low_confidence(0.29)				YES	GPATCH8,missense_variant,p.Arg786Ser,ENST00000434000,;GPATCH8,missense_variant,p.Arg864Ser,ENST00000591680,NM_001002909.2;GPATCH8,downstream_gene_variant,,ENST00000585614,;GPATCH8,3_prime_UTR_variant,,ENST00000587228,;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,;GPATCH8,downstream_gene_variant,,ENST00000590041,;							MODERATE	2590/4509	R864S	GPTC8_HUMAN			Transcript		unknown(0)	.	ENSP00000467556		CCDS32666.1			1	
EML4	0	LGGM	GRCh37	2	42528398	42528398	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	12	.	.	ENST00000318522.5:c.1507A>G	p.Lys503Glu	p.K503E	ENST00000318522	NM_019063.3	503	Aaa/Gaa	0	1	1	UPI0000140350	0	NA	ENST00000318522		ENSG00000143924	1316		27	1.35		HGNC	p.K445E		EML4		SNV			1				ENST00000402711	protein_coding	getma.org/?cm=var&var=hg19,2,42528398,A,G&fts=all		hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF11,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50998		K/E		G	low	1769/5549		getma.org/?cm=msa&ty=f&p=EMAL4_HUMAN&rb=330&re=529&var=K503E	tolerated(0.08)	F2Z2B5_HUMAN			YES	EML4,missense_variant,p.Lys503Glu,ENST00000318522,NM_019063.3;EML4,missense_variant,p.Lys514Glu,ENST00000401738,;EML4,missense_variant,p.Lys445Glu,ENST00000402711,NM_001145076.1;EML4,5_prime_UTR_variant,,ENST00000453191,;EML4,non_coding_transcript_exon_variant,,ENST00000406175,;							MODERATE	1507/2946	K503E	EMAL4_HUMAN			Transcript		benign(0.066)	.	ENSP00000320663		CCDS1807.1			1	
ARHGEF28	0	LGGM	GRCh37	5	73236773	73236773	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	81	13	.	.	ENST00000545377.1:c.5131A>G	p.Arg1711Gly	p.R1711G	ENST00000545377	NM_001080479.2	1711	Agg/Ggg	0	1		UPI0001AE73FF	0	NA	ENST00000426542		ENSG00000214944	30322		94	0		HGNC	p.R631G		ARHGEF28		SNV							ENST00000512883	protein_coding	getma.org/?cm=var&var=hg19,5,73236773,A,G&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF4		R/G		G	neutral	5073/6118		getma.org/?cm=msa&ty=f&p=RGNEF_HUMAN&rb=1640&re=1705&var=R1685G	deleterious(0.03)	D6RAP0_HUMAN				ARHGEF28,missense_variant,p.Arg1711Gly,ENST00000545377,NM_001080479.2;ARHGEF28,missense_variant,p.Arg1685Gly,ENST00000513042,NM_001177693.1;ARHGEF28,missense_variant,p.Arg1667Gly,ENST00000287898,;ARHGEF28,missense_variant,p.Arg1685Gly,ENST00000426542,;ARHGEF28,missense_variant,p.Arg1711Gly,ENST00000437974,;ARHGEF28,missense_variant,p.Arg1372Gly,ENST00000296799,NM_001244364.1;ARHGEF28,missense_variant,p.Arg631Gly,ENST00000512883,;							MODERATE	5053/5118	R1685G	ARG28_HUMAN			Transcript		benign(0.152)	.	ENSP00000412175		CCDS54870.1			1	
NCOA7	0	LGGM	GRCh37	6	126210630	126210630	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	30	13	.	.	ENST00000368357.3:c.1430A>C	p.Glu477Ala	p.E477A	ENST00000368357	NM_001199619.1	477	gAa/gCa	0	1	1	UPI00001AE66D	0	NA	ENST00000368357		ENSG00000111912	21081		43	1.04		HGNC	p.E275A		NCOA7		SNV							ENST00000413085	protein_coding	getma.org/?cm=var&var=hg19,6,126210630,A,C&fts=all		hmmpanther:PTHR23354:SF68,hmmpanther:PTHR23354		E/A		C	low	1782/5521		getma.org/?cm=msa&ty=f&p=NCOA7_HUMAN&rb=296&re=639&var=E477A	deleterious_low_confidence(0.01)	Q8N3C8_HUMAN,Q5TF98_HUMAN,Q5TF97_HUMAN,Q5TF96_HUMAN,Q3ZTS4_HUMAN			YES	NCOA7,missense_variant,p.Glu477Ala,ENST00000368357,NM_001199619.1,NM_001199620.1;NCOA7,missense_variant,p.Glu477Ala,ENST00000392477,NM_001122842.2,NM_181782.4;NCOA7,missense_variant,p.Glu362Ala,ENST00000229634,NM_001199621.1;NCOA7,missense_variant,p.Glu275Ala,ENST00000413085,;							MODERATE	1430/2829	E477A	NCOA7_HUMAN			Transcript		possibly_damaging(0.593)	.	ENSP00000357341		CCDS5132.1			1	
ZNF343	0	LGGM	GRCh37	20	2463838	2463838	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	13	.	.	ENST00000278772.4:c.1769C>A	p.Ser590Ter	p.S590*	ENST00000278772	NM_024325.4	590	tCa/tAa	0	1	1	UPI000013DB8F	0	NA	ENST00000278772		ENSG00000088876	16017		26	0		HGNC	p.S590X		ZNF343		SNV							ENST00000278772	protein_coding	getma.org/?cm=var&var=hg19,20,2463838,G,T&fts=all		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		S/*		T	NA	2257/3632		NA					YES	ZNF343,stop_gained,p.Ser590Ter,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,;							HIGH	1769/1800	S590*	ZN343_HUMAN			Transcript			.	ENSP00000278772		CCDS13028.1			1	
MRPS26	0	LGGM	GRCh37	20	3028398	3028398	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	13	.	.	ENST00000380325.3:c.501C>T	p.Phe167=	p.F167=	ENST00000380325	NM_030811.3	167	ttC/ttT	0	1	1	UPI00001352A1	0		ENST00000380325		ENSG00000125901	14045		23			HGNC	p.F167F		MRPS26		SNV							ENST00000380325	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21035:SF2,hmmpanther:PTHR21035,Pfam_domain:PF14943		F		T		625/1127							YES	MRPS26,synonymous_variant,p.=,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,;							LOW	501/618		RT26_HUMAN			Transcript			.	ENSP00000369682		CCDS13043.1			1	
PPP3CA	0	LGGM	GRCh37	4	101947183	101947183	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	34	13	.	.	ENST00000394854.3:c.1405A>G	p.Ser469Gly	p.S469G	ENST00000394854	NM_000944.4	469	Agc/Ggc	0	1	1	UPI0000110660	0	NA	ENST00000394854		ENSG00000138814	9314		47	0.715		HGNC	p.S469G		PPP3CA		SNV							ENST00000394854	protein_coding	getma.org/?cm=var&var=hg19,4,101947183,T,C&fts=all		hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF192,Superfamily_domains:SSF56300		S/G		C	neutral	2089/4685		getma.org/?cm=msa&ty=f&p=PP2BA_HUMAN&rb=286&re=485&var=S469G	tolerated(0.08)	Q9UMM5_HUMAN,Q9UMB2_HUMAN,E9PPC8_HUMAN,E9PK68_HUMAN,E7ETC2_HUMAN			YES	PPP3CA,missense_variant,p.Ser469Gly,ENST00000394854,NM_000944.4;PPP3CA,missense_variant,p.Ser417Gly,ENST00000323055,NM_001130692.1;PPP3CA,missense_variant,p.Ser237Gly,ENST00000512215,;PPP3CA,missense_variant,p.Ser459Gly,ENST00000394853,NM_001130691.1;PPP3CA,missense_variant,p.Ser371Gly,ENST00000507176,;PPP3CA,missense_variant,p.Ser402Gly,ENST00000523694,;							MODERATE	1405/1566	S469G	PP2BA_HUMAN			Transcript		possibly_damaging(0.493)	.	ENSP00000378323		CCDS34037.1			1	
BICC1	0	LGGM	GRCh37	10	60573702	60573702	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	51	13	.	.	ENST00000373886.3:c.2489T>A	p.Phe830Tyr	p.F830Y	ENST00000373886	NM_001080512.1	830	tTt/tAt	0	1	1	UPI000059D156	0	NA	ENST00000373886		ENSG00000122870	19351		64	0.69		HGNC	p.F456Y		BICC1		SNV			1				ENST00000263103	protein_coding	getma.org/?cm=var&var=hg19,10,60573702,T,A&fts=all		hmmpanther:PTHR10627,hmmpanther:PTHR10627:SF32		F/Y		A	neutral	2493/5473		getma.org/?cm=msa&ty=f&p=BICC1_HUMAN&rb=749&re=873&var=F830Y	tolerated(0.1)				YES	BICC1,missense_variant,p.Phe830Tyr,ENST00000373886,NM_001080512.1;BICC1,missense_variant,p.Phe456Tyr,ENST00000263103,;							MODERATE	2489/2925	F830Y	BICC1_HUMAN			Transcript		benign(0.014)	.	ENSP00000362993		CCDS31206.1			1	
FAM86A	0	LGGM	GRCh37	16	5139170	5139170	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	49	14	.	.	ENST00000427587.4:c.830A>T	p.Glu277Val	p.E277V	ENST00000427587	NM_201400.2	277	gAg/gTg	0	1	1	UPI000013D29B	0	NA	ENST00000427587		ENSG00000118894	32221		63	0.69		HGNC	p.E216V		FAM86A		SNV							ENST00000587133	protein_coding	getma.org/?cm=var&var=hg19,16,5139170,T,A&fts=all		Gene3D:3.40.50.150,Pfam_domain:PF10294,hmmpanther:PTHR23109,hmmpanther:PTHR23109:SF2,Superfamily_domains:SSF53335		E/V		A	neutral	899/2390		getma.org/?cm=msa&ty=f&p=F86A1_HUMAN&rb=123&re=299&var=E279V	tolerated(0.19)				YES	FAM86A,missense_variant,p.Glu277Val,ENST00000427587,NM_201400.2;FAM86A,missense_variant,p.Glu243Val,ENST00000458008,NM_201598.2;FAM86A,missense_variant,p.Glu216Val,ENST00000587133,;ALG1,downstream_gene_variant,,ENST00000588623,;ALG1,downstream_gene_variant,,ENST00000262374,NM_019109.4;ALG1,downstream_gene_variant,,ENST00000544428,;ALG1,downstream_gene_variant,,ENST00000592661,;FAM86A,3_prime_UTR_variant,,ENST00000585436,;FAM86A,3_prime_UTR_variant,,ENST00000587161,;FAM86A,3_prime_UTR_variant,,ENST00000587200,;FAM86A,non_coding_transcript_exon_variant,,ENST00000587608,;ALG1,downstream_gene_variant,,ENST00000591822,;FAM86A,downstream_gene_variant,,ENST00000586444,;FAM86A,downstream_gene_variant,,ENST00000585975,;							MODERATE	830/993	E279V	FA86A_HUMAN			Transcript		benign(0.114)	.	ENSP00000398502		CCDS10529.1			1	
ESYT3	0	LGGM	GRCh37	3	138191304	138191304	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	55	14	.	.	ENST00000389567.4:c.1840G>A	p.Gly614Ser	p.G614S	ENST00000389567	NM_031913.3	614	Ggt/Agt	0	1	1	UPI0000251E45	0	NA	ENST00000389567		ENSG00000158220	24295		69	0.69		HGNC	p.G614S		ESYT3		SNV							ENST00000389567	protein_coding	getma.org/?cm=var&var=hg19,3,138191304,G,A&fts=all		hmmpanther:PTHR10774,hmmpanther:PTHR10774:SF27		G/S		A	neutral	2026/4407		getma.org/?cm=msa&ty=f&p=ESYT3_HUMAN&rb=545&re=744&var=G614S	tolerated(0.64)				YES	ESYT3,missense_variant,p.Gly614Ser,ENST00000389567,NM_031913.3;ESYT3,upstream_gene_variant,,ENST00000460133,;ESYT3,3_prime_UTR_variant,,ENST00000490835,;ESYT3,non_coding_transcript_exon_variant,,ENST00000486831,;ESYT3,upstream_gene_variant,,ENST00000460325,;ESYT3,downstream_gene_variant,,ENST00000468103,;							MODERATE	1840/2661	G614S	ESYT3_HUMAN			Transcript		benign(0.004)	.	ENSP00000374218		CCDS3101.2			1	
KDM3B	0	LGGM	GRCh37	5	137756428	137756428	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	14	.	.	ENST00000314358.5:c.3749A>G	p.Glu1250Gly	p.E1250G	ENST00000314358	NM_016604.3	1250	gAg/gGg	0	1	1	UPI000020C6A8	0	NA	ENST00000314358		ENSG00000120733	1337		32	1.39		HGNC	p.E906G	COSM420408	KDM3B		SNV						1	ENST00000394866	protein_coding	getma.org/?cm=var&var=hg19,5,137756428,A,G&fts=all		hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8		E/G		G	low	3949/6813		getma.org/?cm=msa&ty=f&p=KDM3B_HUMAN&rb=1244&re=1443&var=E1250G	deleterious(0.02)	F5H275_HUMAN			YES	KDM3B,missense_variant,p.Glu1250Gly,ENST00000314358,NM_016604.3;KDM3B,missense_variant,p.Glu906Gly,ENST00000394866,;KDM3B,missense_variant,p.Glu282Gly,ENST00000542866,;KDM3B,non_coding_transcript_exon_variant,,ENST00000508386,;KDM3B,3_prime_UTR_variant,,ENST00000510866,;KDM3B,3_prime_UTR_variant,,ENST00000507996,;KDM3B,upstream_gene_variant,,ENST00000505756,;					1		MODERATE	3749/5286	E1250G	KDM3B_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000326563		CCDS34242.1			1	
KANSL3	0	LGGM	GRCh37	2	97297113	97297113	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	24	14	.	.	ENST00000431828.1:c.322A>G	p.Ile108Val	p.I108V	ENST00000431828		108	Atc/Gtc	0	1	1	UPI0000207C82	0	NA	ENST00000431828		ENSG00000114982	25473		38	0.345		HGNC	p.I21V		KANSL3		SNV							ENST00000599854	protein_coding	getma.org/?cm=var&var=hg19,2,97297113,T,C&fts=all		hmmpanther:PTHR13136		I/V		C	neutral	399/5153		getma.org/?cm=msa&ty=f&p=KANL3_HUMAN&rb=1&re=200&var=I108V	tolerated(0.45)	F8WEN2_HUMAN,B4E1W4_HUMAN			YES	KANSL3,missense_variant,p.Ile21Val,ENST00000599854,NM_001115016.2;KANSL3,missense_variant,p.Ile108Val,ENST00000431828,;KANSL3,missense_variant,p.Ile21Val,ENST00000441706,;KANSL3,missense_variant,p.Ile21Val,ENST00000435669,;KANSL3,5_prime_UTR_variant,,ENST00000440133,;KANSL3,intron_variant,,ENST00000448075,;KANSL3,non_coding_transcript_exon_variant,,ENST00000487070,;KANSL3,non_coding_transcript_exon_variant,,ENST00000475820,;KANSL3,missense_variant,p.Ile108Val,ENST00000420155,;KANSL3,missense_variant,p.Ile37Val,ENST00000447759,;KANSL3,missense_variant,p.Ile108Val,ENST00000597150,;KANSL3,missense_variant,p.Ile108Val,ENST00000444759,;KANSL3,missense_variant,p.Ile108Val,ENST00000451819,;KANSL3,missense_variant,p.Ile21Val,ENST00000418735,;KANSL3,3_prime_UTR_variant,,ENST00000354204,;KANSL3,3_prime_UTR_variant,,ENST00000425656,;KANSL3,3_prime_UTR_variant,,ENST00000452268,;KANSL3,intron_variant,,ENST00000416138,;							MODERATE	322/2637	I108V	KANL3_HUMAN			Transcript		benign(0.23)	.	ENSP00000396749		CCDS46361.1			1	
CSMD2	0	LGGM	GRCh37	1	34123694	34123694	+	synonymous_variant,NMD_transcript_variant	Silent	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	20	14	.	.	ENST00000241312.4:c.4179T>C	p.Asn1393=	p.N1393=	ENST00000241312		1393	aaT/aaC	0	1	1	UPI00004561AB	0		ENST00000241312		ENSG00000121904	19290		34			HGNC	p.N1433N	rs748997896	CSMD2	6.09E-05	SNV							ENST00000373381	nonsense_mediated_decay			Gene3D:2.10.70.10,Pfam_domain:PF00084,PROSITE_profiles:PS50923,SMART_domains:SM00032,Superfamily_domains:SSF57535		N		G		4208/13108							YES	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,;							LOW	4179/10464		CSMD2_HUMAN			Transcript			.	ENSP00000241312	8.24E-06	CCDS380.1			1	
CDH1	0	LGGM	GRCh37	16	68847237	68847237	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	67	14	.	.	ENST00000261769.5:c.1159A>C	p.Asn387His	p.N387H	ENST00000261769	NM_004360.3	387	Aac/Cac	0	1	1	UPI00000341EF	0	getma.org/pdb.php?prot=CADH1_HUMAN&from=380&to=478&var=N387H	ENST00000261769		ENSG00000039068	1748		81	3.86		HGNC	p.N335H		CDH1		SNV			1				ENST00000566510	protein_coding	getma.org/?cm=var&var=hg19,16,68847237,A,C&fts=all		PROSITE_profiles:PS50268,hmmpanther:PTHR24027:SF252,hmmpanther:PTHR24027,Gene3D:2.60.40.60,Pfam_domain:PF00028,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		N/H		C	high	1350/4889		getma.org/?cm=msa&ty=f&p=CADH1_HUMAN&rb=380&re=478&var=N387H	deleterious(0)	B3GN61_HUMAN			YES	CDH1,missense_variant,p.Asn387His,ENST00000261769,NM_004360.3;CDH1,intron_variant,,ENST00000422392,;RP11-354M1.2,downstream_gene_variant,,ENST00000563916,;CDH1,non_coding_transcript_exon_variant,,ENST00000562836,;CDH1,downstream_gene_variant,,ENST00000564676,;CDH1,downstream_gene_variant,,ENST00000564745,;CDH1,missense_variant,p.Asn387His,ENST00000566612,;CDH1,missense_variant,p.Asn335His,ENST00000566510,;CDH1,non_coding_transcript_exon_variant,,ENST00000565810,;CDH1,downstream_gene_variant,,ENST00000561751,;CDH1,downstream_gene_variant,,ENST00000567320,;							MODERATE	1159/2649	N387H	CADH1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000261769		CCDS10869.1			1	
C9orf163	0	LGGM	GRCh37	9	139379275	139379275	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	11	14	.	.	ENST00000354376.1:c.375C>T	p.Pro125=	p.P125=	ENST00000354376	NM_152571.2	125	ccC/ccT	0	1	1	UPI000006EC86	0		ENST00000354376		ENSG00000196366	26718		25			HGNC	p.P125P		C9orf163		SNV							ENST00000354376	protein_coding					P		T		1329/2572							YES	C9orf163,synonymous_variant,p.=,ENST00000354376,NM_152571.2;							LOW	375/612		CI163_HUMAN			Transcript			.	ENSP00000346345		CCDS7001.1			1	
GTF2IRD2	0	LGGM	GRCh37	7	74237336	74237336	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	15	.	.	ENST00000405086.2:c.359-1G>T		p.X120_splice	ENST00000405086	NM_173537.3			0	1	1	UPI0000246D34	0		ENST00000405086		ENSG00000196275	30775		47			HGNC	-		GTF2IRD2		SNV							ENST00000405086	protein_coding							A		-/3558							YES	GTF2IRD2,splice_acceptor_variant,,ENST00000405086,NM_173537.3;GTF2IRD2,splice_acceptor_variant,,ENST00000361071,;GTF2IRD2,splice_acceptor_variant,,ENST00000453619,;GTF2IRD2,splice_acceptor_variant,,ENST00000457594,;GTF2IRD2,upstream_gene_variant,,ENST00000484624,;STAG3L2,intron_variant,,ENST00000380775,;							HIGH	359/2850		GTD2A_HUMAN			Transcript			.	ENSP00000385491		CCDS5576.1			1	
TAF8	0	LGGM	GRCh37	6	42054455	42054455	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	71	15	.	.				ENST00000372977	NM_138572.2			0	1	1	UPI00001A36D2	0		ENST00000372977		ENSG00000137413	17300		86		3443	HGNC	-		TAF8		SNV							ENST00000372982	protein_coding							C		-/6680							YES	TAF8,splice_acceptor_variant,,ENST00000372982,;TAF8,splice_acceptor_variant,,ENST00000456846,;TAF8,downstream_gene_variant,,ENST00000372977,NM_138572.2;							MODIFIER	-/933		TAF8_HUMAN			Transcript			.	ENSP00000362068		CCDS43462.1			1	
ODF2	0	LGGM	GRCh37	9	131256878	131256878	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	10	15	.	.	ENST00000434106.3:c.1842A>C	p.Gln614His	p.Q614H	ENST00000434106	NM_153433.1	614	caA/caC	0	1	1	UPI0000211922	0	NA	ENST00000434106		ENSG00000136811	8114		25	0.975		HGNC	p.Q614H		ODF2		SNV							ENST00000393533	protein_coding	getma.org/?cm=var&var=hg19,9,131256878,A,C&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23162,hmmpanther:PTHR23162:SF8		Q/H		C	low	2205/3890		getma.org/?cm=msa&ty=f&p=ODFP2_HUMAN&rb=529&re=797&var=Q614H	tolerated(0.18)	S4R462_HUMAN,Q9UNM2_HUMAN,Q6PJQ8_HUMAN,Q5T4C7_HUMAN			YES	ODF2,missense_variant,p.Gln614His,ENST00000434106,NM_153433.1;ODF2,missense_variant,p.Gln590His,ENST00000393527,NM_002540.4;ODF2,missense_variant,p.Gln609His,ENST00000351030,NM_153435.1,NM_001242352.1;ODF2,missense_variant,p.Gln614His,ENST00000604420,NM_001242353.1;ODF2,missense_variant,p.Gln609His,ENST00000372807,;ODF2,missense_variant,p.Gln590His,ENST00000444119,;ODF2,missense_variant,p.Gln595His,ENST00000372791,NM_153437.2;ODF2,missense_variant,p.Gln658His,ENST00000372814,NM_153439.1,NM_153432.1;ODF2,missense_variant,p.Gln595His,ENST00000546203,NM_153440.1;ODF2,missense_variant,p.Gln614His,ENST00000393533,NM_153436.1;ODF2,missense_variant,p.Gln533His,ENST00000448249,NM_001242354.1;ODF2,missense_variant,p.Gln34His,ENST00000483070,;ODF2,upstream_gene_variant,,ENST00000488909,;							MODERATE	1842/2490	Q614H	ODFP2_HUMAN			Transcript		benign(0.211)	.	ENSP00000403453		CCDS56588.1			1	
LNP1	0	LGGM	GRCh37	3	100148598	100148598	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	65	15	.	.	ENST00000383693.3:c.25G>A	p.Asp9Asn	p.D9N	ENST00000383693	NM_001085451.1	9	Gat/Aat	0	1	1	UPI00001B64A6	0	NA	ENST00000383693		ENSG00000206535	28014		80	0.895		HGNC	p.D9N		LNP1		SNV							ENST00000383693	protein_coding	getma.org/?cm=var&var=hg19,3,100148598,G,A&fts=all		Pfam_domain:PF15419,Low_complexity_(Seg):seg		D/N		A	low	1305/2210		getma.org/?cm=msa&ty=f&p=LNP1_HUMAN&rb=1&re=59&var=D9N	deleterious(0.01)	B3KPG3_HUMAN			YES	LNP1,missense_variant,p.Asp9Asn,ENST00000383693,NM_001085451.1;LNP1,missense_variant,p.Asp9Asn,ENST00000489752,;LNP1,missense_variant,p.Asp9Asn,ENST00000466996,;							MODERATE	25/537	D9N	LNP1_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000373191		CCDS43120.1			1	
TENM3	0	LGGM	GRCh37	4	183664474	183664474	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	15	.	.	ENST00000511685.1:c.3531G>A	p.Ala1177=	p.A1177=	ENST00000511685		1177	gcG/gcA	0	1	1	UPI00006C0820	0		ENST00000511685		ENSG00000218336	29944		29			HGNC	p.A1177A	rs370690717,COSM420107	TENM3		SNV	A:0.0002		1	0.000102		0,1	ENST00000406950	protein_coding			hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Gene3D:2.120.10.30,Superfamily_domains:SSF101898		A	A:0	A		3654/10896				G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,synonymous_variant,p.=,ENST00000511685,;TENM3,synonymous_variant,p.=,ENST00000406950,NM_001080477.1;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;					0,1		LOW	3531/8100		TEN3_HUMAN			Transcript			.	ENSP00000424226	8.27E-06	CCDS47165.1			1	
FAM117B	0	LGGM	GRCh37	2	203630425	203630425	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	16	15	.	.	ENST00000392238.2:c.1708A>G	p.Thr570Ala	p.T570A	ENST00000392238		570	Aca/Gca	0	1	1	UPI00015B3B88	0	NA	ENST00000392238		ENSG00000138439	14440		31	1.61		HGNC	p.T570A		FAM117B		SNV							ENST00000392238	protein_coding	getma.org/?cm=var&var=hg19,2,203630425,A,G&fts=all		hmmpanther:PTHR14972:SF6,hmmpanther:PTHR14972		T/A		G	low	1708/5763		getma.org/?cm=msa&ty=f&p=F117B_HUMAN&rb=507&re=589&var=T570A	deleterious_low_confidence(0)				YES	FAM117B,missense_variant,p.Thr326Ala,ENST00000303116,NM_173511.3;FAM117B,missense_variant,p.Thr570Ala,ENST00000392238,;							MODERATE	1708/1770	T570A	F117B_HUMAN			Transcript		possibly_damaging(0.573)	.	ENSP00000376071		CCDS33362.2			1	
FAM221A	0	LGGM	GRCh37	7	23728887	23728887	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	15	16	.	.	ENST00000344962.4:c.240-1G>A		p.X80_splice	ENST00000344962	NM_199136.3			0	1	1	UPI0000199810	0		ENST00000344962		ENSG00000188732	27977		31			HGNC	-		FAM221A		SNV							ENST00000344962	protein_coding							A		-/1472							YES	FAM221A,splice_acceptor_variant,,ENST00000344962,NM_199136.3;FAM221A,splice_acceptor_variant,,ENST00000409994,NM_001127365.1;FAM221A,splice_acceptor_variant,,ENST00000409192,NM_001127364.1;FAM221A,splice_acceptor_variant,,ENST00000409653,;FAM221A,splice_acceptor_variant,,ENST00000462546,;FAM221A,splice_acceptor_variant,,ENST00000429719,;FAM221A,splice_acceptor_variant,,ENST00000446234,;							HIGH	240/897		F221A_HUMAN			Transcript			.	ENSP00000342576		CCDS5385.1			1	
ANKRD12	0	LGGM	GRCh37	18	9258005	9258005	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	25	16	.	.	ENST00000262126.4:c.4740T>C	p.Tyr1580=	p.Y1580=	ENST00000262126	NM_015208.4	1580	taT/taC	0	1	1	UPI0000073327	0		ENST00000262126		ENSG00000101745	29135		41			HGNC	p.Y1557Y		ANKRD12		SNV							ENST00000383440	protein_coding			hmmpanther:PTHR24149:SF7,hmmpanther:PTHR24149		Y		C		4980/11288				J3QRX3_HUMAN			YES	ANKRD12,synonymous_variant,p.=,ENST00000262126,NM_015208.4;ANKRD12,synonymous_variant,p.=,ENST00000383440,NM_001083625.2;ANKRD12,synonymous_variant,p.=,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,;							LOW	4740/6189		ANR12_HUMAN			Transcript			.	ENSP00000262126		CCDS11843.1			1	
DLGAP2	0	LGGM	GRCh37	8	1581030	1581030	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	48	16	.	.	ENST00000421627.2:c.1388T>C	p.Val463Ala	p.V463A	ENST00000421627	NM_004745.4	463	gTg/gCg	0	1	1	UPI000021BFBC	0	NA	ENST00000421627		ENSG00000198010	2906		64	1.835		HGNC	p.V463A		DLGAP2		SNV							ENST00000421627	protein_coding	getma.org/?cm=var&var=hg19,8,1581030,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12353,hmmpanther:PTHR12353:SF3		V/A		C	low	1522/10132		getma.org/?cm=msa&ty=f&p=DLGP2_HUMAN&rb=401&re=600&var=V542A	tolerated(0.06)				YES	DLGAP2,missense_variant,p.Val463Ala,ENST00000421627,NM_004745.4,NM_001277161.1;DLGAP2,missense_variant,p.Val480Ala,ENST00000520901,;							MODERATE	1388/2928	V542A	DLGP2_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000400258		CCDS47760.1			1	
TRAPPC8	0	LGGM	GRCh37	18	29444650	29444650	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	18	16	.	.	ENST00000283351.4:c.2685T>G	p.Val895=	p.V895=	ENST00000283351	NM_014939.3	895	gtT/gtG	0	1	1	UPI0000052E22	0		ENST00000283351		ENSG00000153339	29169		34			HGNC	p.V841V		TRAPPC8		SNV							ENST00000582539	protein_coding			hmmpanther:PTHR12975,hmmpanther:PTHR12975:SF6		V		C		3021/6226				J3QQJ5_HUMAN,J3QKL6_HUMAN			YES	TRAPPC8,synonymous_variant,p.=,ENST00000283351,NM_014939.3;TRAPPC8,synonymous_variant,p.=,ENST00000582539,;TRAPPC8,synonymous_variant,p.=,ENST00000580104,;							LOW	2685/4308		TPPC8_HUMAN			Transcript			.	ENSP00000283351		CCDS11901.1			1	
GRIK4	0	LGGM	GRCh37	11	120690595	120690595	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	124	16	.	.	ENST00000527524.2:c.477C>T	p.Cys159=	p.C159=	ENST00000527524	NM_001282470.1	159	tgC/tgT	0	1		UPI000013DB8D	0		ENST00000438375		ENSG00000149403	4582		140			HGNC	p.C159C		GRIK4		SNV							ENST00000438375	protein_coding			Superfamily_domains:SSF53822,Gene3D:3.40.50.2300,Pfam_domain:PF01094,hmmpanther:PTHR18966:SF171,hmmpanther:PTHR18966		C		T		819/4214								GRIK4,synonymous_variant,p.=,ENST00000527524,NM_001282470.1;GRIK4,synonymous_variant,p.=,ENST00000438375,NM_014619.2;GRIK4,downstream_gene_variant,,ENST00000526536,;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,;							LOW	477/2871		GRIK4_HUMAN			Transcript			.	ENSP00000404063		CCDS8433.1			1	
DNAH10	0	LGGM	GRCh37	12	124303789	124303789	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	110	16	.	.	ENST00000409039.3:c.3638T>G	p.Leu1213Arg	p.L1213R	ENST00000409039	NM_207437.3	1213	cTt/cGt	0	1	1	UPI00014F7B89	0	NA	ENST00000409039		ENSG00000197653	2941		126	3.03		HGNC	p.L1213R		DNAH10		SNV							ENST00000409039	protein_coding	getma.org/?cm=var&var=hg19,12,124303789,T,G&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF135		L/R		G	medium	3663/14166		getma.org/?cm=msa&ty=f&p=DYH10_HUMAN&rb=1161&re=1251&var=L1213R					YES	DNAH10,missense_variant,p.Leu1213Arg,ENST00000409039,NM_207437.3;DNAH10,downstream_gene_variant,,ENST00000467219,;							MODERATE	3638/13416	L1213R	DYH10_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000386770		CCDS9255.2			1	
FAM179B	0	LGGM	GRCh37	14	45513969	45513969	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	13	16	.	.	ENST00000361577.3:c.4050A>C	p.Glu1350Asp	p.E1350D	ENST00000361577	NM_015091.2	1350	gaA/gaC	0	1	1	UPI00001C1F79	0	NA	ENST00000361577		ENSG00000198718	19959		29	0.02		HGNC	p.E1350D		FAM179B		SNV							ENST00000361577	protein_coding	getma.org/?cm=var&var=hg19,14,45513969,A,C&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR21567,hmmpanther:PTHR21567:SF6,Superfamily_domains:SSF48371		E/D		C	neutral	4264/6247		getma.org/?cm=msa&ty=f&p=F179B_HUMAN&rb=1227&re=1426&var=E1350D	tolerated(0.12)				YES	FAM179B,missense_variant,p.Glu1350Asp,ENST00000361462,;FAM179B,missense_variant,p.Glu1350Asp,ENST00000361577,NM_015091.2;FAM179B,3_prime_UTR_variant,,ENST00000382233,;KLHL28,upstream_gene_variant,,ENST00000556239,;KLHL28,upstream_gene_variant,,ENST00000553817,;FAM179B,3_prime_UTR_variant,,ENST00000557423,;							MODERATE	4050/5163	E1350D	F179B_HUMAN			Transcript		benign(0.171)	.	ENSP00000355045		CCDS9681.1			1	
ZNF417	0	LGGM	GRCh37	19	58420089	58420089	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	38	16	.	.	ENST00000312026.5:c.1557T>G	p.Pro519=	p.P519=	ENST00000312026	NM_152475.2	519	ccT/ccG	0	1	1	UPI000013F249	0		ENST00000312026		ENSG00000173480	20646		54			HGNC	p.P320P		ZNF417		SNV							ENST00000536263	protein_coding			Superfamily_domains:SSF57667,Superfamily_domains:SSF57667,Pfam_domain:PF13465,Gene3D:3.30.160.60,hmmpanther:PTHR24402:SF22,hmmpanther:PTHR24402,PROSITE_profiles:PS50157		P		C		1722/3597				M0R2A6_HUMAN,M0R178_HUMAN,M0R0V5_HUMAN,M0R0M6_HUMAN,M0R082_HUMAN,M0QXF5_HUMAN,B4DEU1_HUMAN			YES	ZNF417,synonymous_variant,p.=,ENST00000312026,NM_152475.2;ZNF417,synonymous_variant,p.=,ENST00000536263,;ZNF417,synonymous_variant,p.=,ENST00000595559,;ZNF417,intron_variant,,ENST00000594396,;ZNF417,downstream_gene_variant,,ENST00000598526,;ZNF417,downstream_gene_variant,,ENST00000597515,;ZNF417,downstream_gene_variant,,ENST00000599251,;ZNF417,downstream_gene_variant,,ENST00000598629,;CTD-2583A14.9,intron_variant,,ENST00000602124,;							LOW	1557/1728		ZN417_HUMAN			Transcript			.	ENSP00000311319		CCDS12965.1			1	
SDC4	0	LGGM	GRCh37	20	43964488	43964488	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	20	16	.	.	ENST00000372733.3:c.133G>C	p.Asp45His	p.D45H	ENST00000372733	NM_002999.3	45	Gat/Cat	0	1	1	UPI000003B45C	0	NA	ENST00000372733		ENSG00000124145	10661		36	2.175		HGNC	p.D45H		SDC4		SNV							ENST00000372733	protein_coding	getma.org/?cm=var&var=hg19,20,43964488,C,G&fts=all		hmmpanther:PTHR10915		D/H		G	medium	173/2613		getma.org/?cm=msa&ty=f&p=SDC4_HUMAN&rb=1&re=84&var=D45H	deleterious(0)	B4E1S6_HUMAN			YES	SDC4,missense_variant,p.Asp45His,ENST00000372733,NM_002999.3;SDC4,intron_variant,,ENST00000537976,;							MODERATE	133/597	D45H	SDC4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000361818		CCDS13350.1			1	
KIF6	0	LGGM	GRCh37	6	39552695	39552695	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	129	16	.	.	ENST00000287152.7:c.1056T>C	p.Asn352=	p.N352=	ENST00000287152	NM_145027.4	352	aaT/aaC	0	1	1	UPI0000457436	0		ENST00000287152		ENSG00000164627	21202		145			HGNC	p.N191N	rs769980472	KIF6		SNV				9.73E-05			ENST00000373213	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00129,Gene3D:3.40.850.10,hmmpanther:PTHR24115:SF194,hmmpanther:PTHR24115		N		G		1151/9082							YES	KIF6,synonymous_variant,p.=,ENST00000287152,NM_145027.4;KIF6,synonymous_variant,p.=,ENST00000458470,;KIF6,synonymous_variant,p.=,ENST00000373216,;KIF6,synonymous_variant,p.=,ENST00000373213,;KIF6,synonymous_variant,p.=,ENST00000373215,;KIF6,synonymous_variant,p.=,ENST00000538893,;KIF6,synonymous_variant,p.=,ENST00000441975,;							LOW	1056/2445		KIF6_HUMAN			Transcript			.	ENSP00000287152	8.24E-06	CCDS4844.1			1	
ANKRD55	0	LGGM	GRCh37	5	55398401	55398401	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	17	16	.	.	ENST00000341048.4:c.1643A>T	p.Gln548Leu	p.Q548L	ENST00000341048	NM_024669.2	548	cAg/cTg	0	1	1	UPI00004572EF	0	NA	ENST00000341048		ENSG00000164512	25681		33	0.975		HGNC	p.Q548L		ANKRD55		SNV			1				ENST00000341048	protein_coding	getma.org/?cm=var&var=hg19,5,55398401,T,A&fts=all		hmmpanther:PTHR24158:SF21,hmmpanther:PTHR24158		Q/L		A	low	1795/2500		getma.org/?cm=msa&ty=f&p=ANR55_HUMAN&rb=374&re=611&var=Q547L	deleterious_low_confidence(0.01)				YES	ANKRD55,missense_variant,p.Gln548Leu,ENST00000341048,NM_024669.2;ANKRD55,missense_variant,p.Gln505Leu,ENST00000504958,;ANKRD55,missense_variant,p.Gln260Leu,ENST00000434982,;							MODERATE	1643/1845	Q547L	ANR55_HUMAN			Transcript		benign(0.002)	.	ENSP00000342295		CCDS34161.1			1	
AATF	0	LGGM	GRCh37	17	35348095	35348095	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	49	17	.	.	ENST00000225402.5:c.1337C>T	p.Ala446Val	p.A446V	ENST00000225402	NM_012138.3	446	gCt/gTt	0	1	1	UPI000006E3DE	0	NA	ENST00000225402		ENSG00000108270	19235		66	2.015		HGNC	p.A84V		AATF		SNV							ENST00000589579	protein_coding	getma.org/?cm=var&var=hg19,17,35348095,C,T&fts=all		hmmpanther:PTHR15565:SF0,hmmpanther:PTHR15565		A/V		T	medium	1588/2141		getma.org/?cm=msa&ty=f&p=AATF_HUMAN&rb=374&re=463&var=A446V	deleterious(0.05)	K7ERC2_HUMAN			YES	AATF,missense_variant,p.Ala446Val,ENST00000225402,NM_012138.3;AATF,missense_variant,p.Ala84Val,ENST00000589579,;AATF,missense_variant,p.Ala8Val,ENST00000593084,;AATF,downstream_gene_variant,,ENST00000592751,;							MODERATE	1337/1683	A446V	AATF_HUMAN			Transcript		benign(0.021)	.	ENSP00000225402		CCDS32632.1			1	
GEMIN5	0	LGGM	GRCh37	5	154282148	154282148	+	frameshift_variant	Frame_Shift_Del	DEL	T	T	-	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	40	17	.	.	ENST00000285873.7:c.2817del	p.Ala940GlnfsTer6	p.A940Qfs*6	ENST00000285873	NM_001252156.1	939	gcA/gc	0	1	1	UPI000020D072	0		ENST00000285873		ENSG00000082516	20043		57			HGNC	p.A939fs		GEMIN5		deletion							ENST00000285873	protein_coding			hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89		A/X		-		2893/5397				Q58EZ8_HUMAN			YES	GEMIN5,frameshift_variant,p.Ala940GlnfsTer6,ENST00000285873,NM_001252156.1,NM_015465.4;							HIGH	2817/4527		GEMI5_HUMAN			Transcript			.	ENSP00000285873		CCDS4330.1			1	
PCK1	0	LGGM	GRCh37	20	56136565	56136565	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	17	.	.	ENST00000319441.4:c.98A>G	p.Asn33Ser	p.N33S	ENST00000319441	NM_002591.3	33	aAt/aGt	0	1	1	UPI000013CB5A	0	getma.org/pdb.php?prot=PCKGC_HUMAN&from=29&to=622&var=N33S	ENST00000319441		ENSG00000124253	8724		44	-1.32		HGNC	p.N33S		PCK1		SNV			1				ENST00000319441	protein_coding	getma.org/?cm=var&var=hg19,20,56136565,A,G&fts=all		Gene3D:3.40.449.10,HAMAP:MF_00452,Pfam_domain:PF00821,PIRSF_domain:PIRSF001348,hmmpanther:PTHR11561,hmmpanther:PTHR11561:SF1,Superfamily_domains:SSF68923		N/S		G	neutral	262/2686		getma.org/?cm=msa&ty=f&p=PCKGC_HUMAN&rb=29&re=622&var=N33S	tolerated(0.15)				YES	PCK1,missense_variant,p.Asn33Ser,ENST00000319441,NM_002591.3;PCK1,5_prime_UTR_variant,,ENST00000543666,;PCK1,upstream_gene_variant,,ENST00000535860,;PCK1,non_coding_transcript_exon_variant,,ENST00000467047,;PCK1,non_coding_transcript_exon_variant,,ENST00000475833,;PCK1,upstream_gene_variant,,ENST00000498194,;PCK1,upstream_gene_variant,,ENST00000485958,;PCK1,upstream_gene_variant,,ENST00000470051,;							MODERATE	98/1869	N33S	PCKGC_HUMAN			Transcript		benign(0)	.	ENSP00000319814		CCDS13460.1			1	
C5orf42	0	LGGM	GRCh37	5	37125435	37125435	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	84	17	.	.	ENST00000425232.2:c.8707A>C	p.Lys2903Gln	p.K2903Q	ENST00000425232	NM_023073.3	2903	Aaa/Caa	0	1	1	UPI0001AAB3EA	0	NA	ENST00000425232		ENSG00000197603	25801		101	2.425		HGNC	p.K1969Q		C5orf42		SNV			1				ENST00000514429	protein_coding	getma.org/?cm=var&var=hg19,5,37125435,T,G&fts=all		hmmpanther:PTHR14492,hmmpanther:PTHR14492:SF2,Pfam_domain:PF15392		K/Q		G	medium	8938/11199		getma.org/?cm=msa&ty=f&p=CE042_HUMAN&rb=1731&re=1930&var=K1801Q	deleterious(0)				YES	C5orf42,missense_variant,p.Lys1801Gln,ENST00000274258,;C5orf42,missense_variant,p.Lys2903Gln,ENST00000425232,NM_023073.3;C5orf42,missense_variant,p.Lys2903Gln,ENST00000508244,;C5orf42,missense_variant,p.Lys1969Gln,ENST00000514429,;C5orf42,intron_variant,,ENST00000512288,;C5orf42,3_prime_UTR_variant,,ENST00000509849,;C5orf42,non_coding_transcript_exon_variant,,ENST00000509957,;							MODERATE	8707/9594	K1801Q	CE042_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000389014		CCDS34146.2			1	
PELO	0	LGGM	GRCh37	5	52096785	52096785	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	17	.	.	ENST00000274311.2:c.557A>G	p.Tyr186Cys	p.Y186C	ENST00000274311	NM_015946.4	186	tAt/tGt	0	1	1	UPI000013D9FE	0	getma.org/pdb.php?prot=PELO_HUMAN&from=136&to=268&var=Y186C	ENST00000274311		ENSG00000152684	8829		45	3.37		HGNC	p.Y186C	rs770216010	PELO		SNV							ENST00000274311	protein_coding	getma.org/?cm=var&var=hg19,5,52096785,A,G&fts=all		Pfam_domain:PF03464,hmmpanther:PTHR10853,Superfamily_domains:SSF53137,TIGRFAM_domain:TIGR00111		Y/C		G	medium	1542/4349	1.50E-05	getma.org/?cm=msa&ty=f&p=PELO_HUMAN&rb=136&re=268&var=Y186C	deleterious(0)				YES	PELO,missense_variant,p.Tyr186Cys,ENST00000274311,NM_015946.4;ITGA1,intron_variant,,ENST00000282588,NM_181501.1;ITGA1,intron_variant,,ENST00000504086,;PELO,intron_variant,,ENST00000506949,;							MODERATE	557/1158	Y186C	PELO_HUMAN	0.000151		Transcript		probably_damaging(0.976)	.	ENSP00000274311	1.65E-05	CCDS3956.1			1	
FSD2	0	LGGM	GRCh37	15	83455996	83455996	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	98	17	.	.	ENST00000334574.8:c.147T>A	p.Ala49=	p.A49=	ENST00000334574		49	gcT/gcA	0	1	1	UPI0000161097	0		ENST00000334574		ENSG00000186628	18024		115			HGNC	p.A49A		FSD2		SNV							ENST00000561368	protein_coding			hmmpanther:PTHR24099:SF6,hmmpanther:PTHR24099		A		T		329/6418				H0YLA8_HUMAN			YES	FSD2,synonymous_variant,p.=,ENST00000334574,;FSD2,synonymous_variant,p.=,ENST00000541889,NM_001007122.2,NM_001281805.1,NM_001281806.1;FSD2,synonymous_variant,p.=,ENST00000561368,;							LOW	147/2250		FSD2_HUMAN			Transcript			.	ENSP00000335651		CCDS45332.1			1	
EDC3	0	LGGM	GRCh37	15	74964008	74964008	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	40	18	.	.	ENST00000315127.4:c.272G>A	p.Cys91Tyr	p.C91Y	ENST00000315127	NM_025083.3	91	tGc/tAc	0	1	1	UPI000007309A	0	NA	ENST00000315127		ENSG00000179151	26114		58	-0.345		HGNC	p.C91Y	COSM3944241	EDC3		SNV						1	ENST00000570138	protein_coding	getma.org/?cm=var&var=hg19,15,74964008,C,T&fts=all		hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612		C/Y		T	neutral	454/3763		getma.org/?cm=msa&ty=f&p=EDC3_HUMAN&rb=83&re=197&var=C91Y	tolerated(1)	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN			YES	EDC3,missense_variant,p.Cys91Tyr,ENST00000315127,NM_025083.3,NM_001142444.1;EDC3,missense_variant,p.Cys91Tyr,ENST00000426797,NM_001142443.1;EDC3,missense_variant,p.Cys91Tyr,ENST00000568176,;EDC3,missense_variant,p.Cys91Tyr,ENST00000563009,;EDC3,missense_variant,p.Cys91Tyr,ENST00000566243,;EDC3,missense_variant,p.Cys91Tyr,ENST00000569561,;EDC3,missense_variant,p.Cys91Tyr,ENST00000563292,;EDC3,missense_variant,p.Cys91Tyr,ENST00000566828,;EDC3,missense_variant,p.Cys91Tyr,ENST00000570138,;EDC3,intron_variant,,ENST00000566219,;EDC3,downstream_gene_variant,,ENST00000566119,;EDC3,downstream_gene_variant,,ENST00000567813,;EDC3,upstream_gene_variant,,ENST00000562974,;EDC3,intron_variant,,ENST00000565602,;EDC3,downstream_gene_variant,,ENST00000569007,;					1		MODERATE	272/1527	C91Y	EDC3_HUMAN			Transcript		benign(0)	.	ENSP00000320503		CCDS10267.1			1	
AQP6	0	LGGM	GRCh37	12	50368132	50368132	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	14	18	.	.	ENST00000315520.5:c.428A>G	p.Gln143Arg	p.Q143R	ENST00000315520	NM_001652.3	143	cAg/cGg	0	1	1	UPI000013EBD8	0	getma.org/pdb.php?prot=AQP6_HUMAN&from=17&to=231&var=Q143R	ENST00000315520		ENSG00000086159	639		32	2.49		HGNC	p.Q143R		AQP6		SNV							ENST00000315520	protein_coding	getma.org/?cm=var&var=hg19,12,50368132,A,G&fts=all		hmmpanther:PTHR19139,hmmpanther:PTHR19139:SF113,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Pfam_domain:PF00230,Superfamily_domains:SSF81338		Q/R		G	medium	765/1398		getma.org/?cm=msa&ty=f&p=AQP6_HUMAN&rb=17&re=231&var=Q143R	deleterious(0.01)	F8VW87_HUMAN			YES	AQP6,missense_variant,p.Gln143Arg,ENST00000315520,NM_001652.3;AQP6,5_prime_UTR_variant,,ENST00000551733,;RACGAP1,downstream_gene_variant,,ENST00000548961,;AQP6,non_coding_transcript_exon_variant,,ENST00000489786,;							MODERATE	428/849	Q143R	AQP6_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000320247		CCDS31798.1			1	
ZNF680	0	LGGM	GRCh37	7	63982158	63982158	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	25	18	.	.	ENST00000309683.6:c.974A>C	p.Glu325Ala	p.E325A	ENST00000309683	NM_178558.4	325	gAa/gCa	0	1	1	UPI000019980A	0	getma.org/pdb.php?prot=ZN680_HUMAN&from=308&to=333&var=E325A	ENST00000309683		ENSG00000173041	26897		43	1.475		HGNC	p.E325A		ZNF680		SNV							ENST00000309683	protein_coding	getma.org/?cm=var&var=hg19,7,63982158,T,G&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF13465,Gene3D:3.30.160.60,PROSITE_patterns:PS00028,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF117,PROSITE_profiles:PS50157		E/A		G	low	1126/3022		getma.org/?cm=msa&ty=f&p=ZN680_HUMAN&rb=288&re=353&var=E325A	deleterious(0)				YES	ZNF680,missense_variant,p.Glu325Ala,ENST00000309683,NM_178558.4;ZNF680,downstream_gene_variant,,ENST00000447137,NM_001130022.1;ZNF680,downstream_gene_variant,,ENST00000476563,;ZNF680,downstream_gene_variant,,ENST00000470847,;							MODERATE	974/1593	E325A	ZN680_HUMAN			Transcript		possibly_damaging(0.622)	.	ENSP00000309330		CCDS34644.1			1	
GEMIN5	0	LGGM	GRCh37	5	154282145	154282145	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	39	18	.	.	ENST00000285873.7:c.2820A>C	p.Ala940=	p.A940=	ENST00000285873	NM_001252156.1	940	gcA/gcC	0	1	1	UPI000020D072	0		ENST00000285873		ENSG00000082516	20043		57			HGNC	p.A940A		GEMIN5		SNV							ENST00000285873	protein_coding			hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF89		A		G		2896/5397				Q58EZ8_HUMAN			YES	GEMIN5,synonymous_variant,p.=,ENST00000285873,NM_001252156.1,NM_015465.4;							LOW	2820/4527		GEMI5_HUMAN			Transcript			.	ENSP00000285873		CCDS4330.1			1	
SSH1	0	LGGM	GRCh37	12	109212042	109212042	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	43	19	.	.	ENST00000326495.5:c.262G>T	p.Glu88Ter	p.E88*	ENST00000326495	NM_018984.3	88	Gaa/Taa	0	1	1	UPI000003E894	0	NA	ENST00000326495		ENSG00000084112	30579		62	0		HGNC	p.E72X		SSH1		SNV							ENST00000546697	protein_coding	getma.org/?cm=var&var=hg19,12,109212042,C,A&fts=all		hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF138		E/*		A	NA	356/8538		NA					YES	SSH1,stop_gained,p.Glu88Ter,ENST00000326495,NM_018984.3;SSH1,stop_gained,p.Glu99Ter,ENST00000326470,NM_001161331.1;SSH1,stop_gained,p.Glu88Ter,ENST00000551165,NM_001161330.1;SSH1,stop_gained,p.Glu72Ter,ENST00000546697,;SSH1,5_prime_UTR_variant,,ENST00000360239,;SSH1,intron_variant,,ENST00000546812,;SSH1,3_prime_UTR_variant,,ENST00000548522,;SSH1,upstream_gene_variant,,ENST00000547862,;							HIGH	262/3150	E88*	SSH1_HUMAN			Transcript			.	ENSP00000315713		CCDS9121.1			1	
MAP10	0	LGGM	GRCh37	1	232942524	232942524	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	148	19	.	.	ENST00000418460.1:c.1755C>T	p.Cys585=	p.C585=	ENST00000418460	NM_019090.2	585	tgC/tgT	0	1	1	UPI0000418F25	0		ENST00000418460		ENSG00000212916	29265		167			HGNC	p.C585C		MAP10		SNV							ENST00000418460	protein_coding			hmmpanther:PTHR21831,hmmpanther:PTHR21831:SF1,Pfam_domain:PF14925		C		T		1882/5450							YES	MAP10,synonymous_variant,p.=,ENST00000418460,NM_019090.2;							LOW	1755/3144		MAP10_HUMAN			Transcript			.	ENSP00000403208		CCDS44334.1			1	
SYNE2	0	LGGM	GRCh37	14	64599066	64599066	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	42	20	.	.	ENST00000358025.3:c.14424A>G	p.Arg4808=	p.R4808=	ENST00000358025	NM_182914.2	4808	agA/agG	0	1		UPI00001B0452	0		ENST00000344113		ENSG00000054654	17084		62			HGNC	p.R1193R		SYNE2		SNV			1				ENST00000357395	protein_coding			hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264		R		G		14636/21777				Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,synonymous_variant,p.=,ENST00000357395,;SYNE2,synonymous_variant,p.=,ENST00000358025,NM_182914.2;SYNE2,synonymous_variant,p.=,ENST00000344113,NM_015180.4;SYNE2,synonymous_variant,p.=,ENST00000554584,;SYNE2,synonymous_variant,p.=,ENST00000555002,;SYNE2,synonymous_variant,p.=,ENST00000394768,;ESR2,intron_variant,,ENST00000556275,;ESR2,intron_variant,,ENST00000542956,;							LOW	14424/20658		SYNE2_HUMAN			Transcript			.	ENSP00000341781		CCDS41963.1			1	
WAC	0	LGGM	GRCh37	10	28900838	28900838	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	46	20	.	.	ENST00000354911.4:c.1424C>A	p.Ser475Ter	p.S475*	ENST00000354911	NM_016628.4	475	tCa/tAa	0	1	1	UPI000013D398	0	NA	ENST00000354911		ENSG00000095787	17327		66	0		HGNC	p.S475X	COSM1347496	WAC		SNV						1	ENST00000354911	protein_coding	getma.org/?cm=var&var=hg19,10,28900838,C,A&fts=all		hmmpanther:PTHR15911,hmmpanther:PTHR15911:SF5		S/*		A	NA	1585/3042		NA		J3QTA0_HUMAN,E9PMZ7_HUMAN,C9JVK6_HUMAN,C9JMU2_HUMAN,C9JD58_HUMAN			YES	WAC,stop_gained,p.Ser430Ter,ENST00000375664,;WAC,stop_gained,p.Ser475Ter,ENST00000354911,NM_016628.4;WAC,stop_gained,p.Ser372Ter,ENST00000347934,NM_100486.3;WAC,stop_gained,p.Ser323Ter,ENST00000375646,;WAC,downstream_gene_variant,,ENST00000428935,;WAC,3_prime_UTR_variant,,ENST00000439676,;WAC,non_coding_transcript_exon_variant,,ENST00000345541,;WAC,upstream_gene_variant,,ENST00000480474,;WAC,downstream_gene_variant,,ENST00000424454,;WAC,downstream_gene_variant,,ENST00000495268,;WAC,downstream_gene_variant,,ENST00000476046,;					1		HIGH	1424/1944	S475*	WAC_HUMAN			Transcript			.	ENSP00000346986		CCDS7159.1			1	
ZFAND4	0	LGGM	GRCh37	10	46121578	46121578	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	44	20	.	.	ENST00000344646.5:c.1693A>C	p.Asn565His	p.N565H	ENST00000344646	NM_174890.2	565	Aat/Cat	0	1	1	UPI0000161363	0	NA	ENST00000344646		ENSG00000172671	23504		64	2.175		HGNC	p.N565H		ZFAND4		SNV							ENST00000344646	protein_coding	getma.org/?cm=var&var=hg19,10,46121578,T,G&fts=all		hmmpanther:PTHR10666:SF109,hmmpanther:PTHR10666		N/H		G	medium	1909/3241		getma.org/?cm=msa&ty=f&p=ZFAN4_HUMAN&rb=401&re=600&var=N565H	deleterious(0.01)	Q5VVY6_HUMAN,J3KPC0_HUMAN			YES	ZFAND4,missense_variant,p.Asn491His,ENST00000374366,NM_001282905.1,NM_001282906.1;ZFAND4,missense_variant,p.Asn565His,ENST00000344646,NM_174890.2,NM_001128324.2;ZFAND4,intron_variant,,ENST00000374371,;ZFAND4,non_coding_transcript_exon_variant,,ENST00000374370,;							MODERATE	1693/2184	N565H	ZFAN4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000339484		CCDS7214.1			1	
CHRM5	0	LGGM	GRCh37	15	34355803	34355803	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	20	.	.	ENST00000383263.5:c.885C>G	p.Ala295=	p.A295=	ENST00000383263	NM_012125.3	295	gcC/gcG	0	1	1	UPI0000050412	0		ENST00000383263		ENSG00000184984	1954		51			HGNC	p.A295A		CHRM5		SNV							ENST00000383263	protein_coding			Prints_domain:PR00542,Pfam_domain:PF00001,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF58,PROSITE_profiles:PS50262		A		G		1555/3043				H0YKC0_HUMAN			YES	CHRM5,synonymous_variant,p.=,ENST00000383263,NM_012125.3;CHRM5,synonymous_variant,p.=,ENST00000557872,;CHRM5,downstream_gene_variant,,ENST00000560035,;							LOW	885/1599		ACM5_HUMAN			Transcript			.	ENSP00000372750		CCDS10031.1			1	
UBA6	0	LGGM	GRCh37	4	68494857	68494857	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	52	20	.	.	ENST00000322244.5:c.2332T>G	p.Leu778Val	p.L778V	ENST00000322244	NM_018227.5	778	Tta/Gta	0	1	1	UPI000004A4F7	0	getma.org/pdb.php?prot=UBA6_HUMAN&from=651&to=847&var=L778V	ENST00000322244		ENSG00000033178	25581		72	1.67		HGNC	p.L778V		UBA6		SNV							ENST00000322244	protein_coding	getma.org/?cm=var&var=hg19,4,68494857,A,C&fts=all		hmmpanther:PTHR10953,hmmpanther:PTHR10953:SF141,Gene3D:1y8qD02,TIGRFAM_domain:TIGR01408,Superfamily_domains:SSF69572		L/V		C	low	2392/9564		getma.org/?cm=msa&ty=f&p=UBA6_HUMAN&rb=651&re=847&var=L778V	tolerated(1)	B3KSS1_HUMAN			YES	UBA6,missense_variant,p.Leu778Val,ENST00000322244,NM_018227.5;UBA6,downstream_gene_variant,,ENST00000505673,;UBA6,upstream_gene_variant,,ENST00000514261,;							MODERATE	2332/3159	L778V	UBA6_HUMAN			Transcript		benign(0.003)	.	ENSP00000313454		CCDS3516.1			1	
DNAJC2	0	LGGM	GRCh37	7	102962465	102962465	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	21	.	.	ENST00000379263.3:c.997C>T	p.Gln333Ter	p.Q333*	ENST00000379263	NM_014377.1	333	Cag/Tag	0	1	1	UPI000020F858	0	NA	ENST00000379263		ENSG00000105821	13192		52	0		HGNC	p.Q333X		DNAJC2		SNV							ENST00000249270	protein_coding	getma.org/?cm=var&var=hg19,7,102962465,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24078,hmmpanther:PTHR24078:SF67,Low_complexity_(Seg):seg		Q/*		A	NA	1248/2167		NA		Q08AR5_HUMAN,C9IZ83_HUMAN			YES	DNAJC2,stop_gained,p.Gln333Ter,ENST00000379263,NM_014377.1;DNAJC2,stop_gained,p.Gln333Ter,ENST00000249270,NM_001129887.1;PMPCB,intron_variant,,ENST00000420236,;DNAJC2,downstream_gene_variant,,ENST00000454277,;DNAJC2,downstream_gene_variant,,ENST00000426036,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000475065,;DNAJC2,non_coding_transcript_exon_variant,,ENST00000464253,;PMPCB,intron_variant,,ENST00000444457,;DNAJC2,upstream_gene_variant,,ENST00000492497,;DNAJC2,downstream_gene_variant,,ENST00000379257,;DNAJC2,upstream_gene_variant,,ENST00000475090,;DNAJC2,downstream_gene_variant,,ENST00000483637,;							HIGH	997/1866	Q333*	DNJC2_HUMAN			Transcript			.	ENSP00000368565		CCDS43628.1			1	
PITPNB	0	LGGM	GRCh37	22	28290564	28290564	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	21	.	.	ENST00000335272.5:c.435T>C	p.Asp145=	p.D145=	ENST00000335272	NM_012399.3	145	gaT/gaC	0	1	1	UPI0000043C3A	0		ENST00000335272		ENSG00000180957	9002		49			HGNC	p.D147D		PITPNB		SNV							ENST00000436663	protein_coding			hmmpanther:PTHR10658,Pfam_domain:PF02121,Gene3D:3.30.530.20,Superfamily_domains:SSF55961		D		G		512/2926				B3KYB6_HUMAN			YES	PITPNB,synonymous_variant,p.=,ENST00000335272,NM_012399.3;PITPNB,synonymous_variant,p.=,ENST00000455418,NM_001284278.1;PITPNB,synonymous_variant,p.=,ENST00000320996,NM_001284277.1;PITPNB,synonymous_variant,p.=,ENST00000415296,;PITPNB,synonymous_variant,p.=,ENST00000436663,;PITPNB,non_coding_transcript_exon_variant,,ENST00000477861,;PITPNB,non_coding_transcript_exon_variant,,ENST00000465179,;PITPNB,downstream_gene_variant,,ENST00000460566,;							LOW	435/816		PIPNB_HUMAN			Transcript			.	ENSP00000334738		CCDS13842.1			1	
ADAMTS1	0	LGGM	GRCh37	21	28210305	28210305	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	21	.	.	ENST00000284984.3:c.2497C>T	p.Arg833Ter	p.R833*	ENST00000284984	NM_006988.3	833	Cga/Tga	0	1	1	UPI000013DDC6	0	NA	ENST00000284984		ENSG00000154734	217		47	0		HGNC	p.R833X		ADAMTS1		SNV							ENST00000284984	protein_coding	getma.org/?cm=var&var=hg19,21,28210305,G,A&fts=all		hmmpanther:PTHR13723:SF40,hmmpanther:PTHR13723,Pfam_domain:PF05986		R/*		A	NA	2952/5191		NA		E5RI60_HUMAN			YES	ADAMTS1,stop_gained,p.Arg833Ter,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,downstream_gene_variant,,ENST00000492656,;							HIGH	2497/2904	R833*	ATS1_HUMAN			Transcript			.	ENSP00000284984		CCDS33524.1			1	
GANAB	0	LGGM	GRCh37	11	62401817	62401817	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	32	21	.	.	ENST00000346178.4:c.591T>G	p.Gly197=	p.G197=	ENST00000346178	NM_198335.3	197	ggT/ggG	0	1		UPI000013D62E	0		ENST00000356638		ENSG00000089597	4138		53			HGNC	p.G83G		GANAB		SNV							ENST00000525994	protein_coding							C		-/3608				F5H6X6_HUMAN				GANAB,synonymous_variant,p.=,ENST00000346178,NM_198335.3;GANAB,synonymous_variant,p.=,ENST00000534779,NM_001278193.1,NM_001278192.1;GANAB,synonymous_variant,p.=,ENST00000525994,;GANAB,intron_variant,,ENST00000356638,NM_198334.2;GANAB,intron_variant,,ENST00000540933,NM_001278194.1;GANAB,intron_variant,,ENST00000534422,;GANAB,downstream_gene_variant,,ENST00000534419,;GANAB,3_prime_UTR_variant,,ENST00000534613,;GANAB,intron_variant,,ENST00000532402,;GANAB,upstream_gene_variant,,ENST00000526732,;GANAB,downstream_gene_variant,,ENST00000524437,;GANAB,downstream_gene_variant,,ENST00000529737,;GANAB,downstream_gene_variant,,ENST00000526210,;GANAB,downstream_gene_variant,,ENST00000526392,;							MODIFIER	-/2835		GANAB_HUMAN			Transcript			.	ENSP00000349053		CCDS8026.1			1	
AKR1C1	0	LGGM	GRCh37	10	5005637	5005637	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	57	22	.	.	ENST00000380872.4:c.1A>G	p.Met1?	p.M1?	ENST00000380872	NM_001353.5	1	Atg/Gtg	0	1	1	UPI0000125760	0	http://getma.org/pdb.php?prot=AK1C1_HUMAN&from=1&to=17&var=M1V	ENST00000380872		ENSG00000187134	384		79	0		HGNC	p.M1V	rs749004430	AKR1C1		SNV							ENST00000380872	protein_coding	getma.org/?cm=var&var=hg19,10,5005637,A,G&fts=all		PIRSF_domain:PIRSF000097,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF201		M/V		G	NA	193/6705	1.50E-05	http://getma.org/?cm=msa&ty=f&p=AK1C1_HUMAN&rb=1&re=47&var=M1V	deleterious_low_confidence(0)				YES	AKR1C1,start_lost,p.Met1?,ENST00000380872,NM_001353.5;AKR1C1,start_lost,p.Met1?,ENST00000434459,;AKR1C1,upstream_gene_variant,,ENST00000380859,;AKR1C1,upstream_gene_variant,,ENST00000442997,;U8,upstream_gene_variant,,ENST00000459095,;AKR1C1,non_coding_transcript_exon_variant,,ENST00000477661,;AKR1C1,upstream_gene_variant,,ENST00000476100,;							HIGH	1/972	M1V	AK1C1_HUMAN			Transcript		benign(0.102)	.	ENSP00000370254	8.24E-06	CCDS7061.1			1	
MANEA	0	LGGM	GRCh37	6	96034702	96034702	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	43	22	.	.	ENST00000358812.4:c.387G>T	p.Glu129Asp	p.E129D	ENST00000358812	NM_024641.3	129	gaG/gaT	0	1	1	UPI000020DF99	0	getma.org/pdb.php?prot=MANEA_HUMAN&from=1&to=460&var=E129D	ENST00000358812		ENSG00000172469	21072		65	1.1		HGNC	p.E129D		MANEA		SNV							ENST00000369293	protein_coding	getma.org/?cm=var&var=hg19,6,96034702,G,T&fts=all		hmmpanther:PTHR13572:SF1,hmmpanther:PTHR13572		E/D		T	low	521/4575		getma.org/?cm=msa&ty=f&p=MANEA_HUMAN&rb=1&re=460&var=E129D	deleterious(0.01)				YES	MANEA,missense_variant,p.Glu129Asp,ENST00000358812,NM_024641.3;MANEA,missense_variant,p.Glu129Asp,ENST00000369293,;MANEA,upstream_gene_variant,,ENST00000474553,;							MODERATE	387/1389	E129D	MANEA_HUMAN			Transcript		benign(0.075)	.	ENSP00000351669		CCDS5032.1			1	
LCE1B	0	LGGM	GRCh37	1	152784949	152784949	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	127	22	.	.	ENST00000360090.3:c.27G>A	p.Gln9=	p.Q9=	ENST00000360090	NM_178349.1	9	caG/caA	0	1	1	UPI000014099C	0		ENST00000360090		ENSG00000196734	16611		149			HGNC	p.Q9Q		LCE1B		SNV							ENST00000360090	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23263,hmmpanther:PTHR23263:SF46,Prints_domain:PR00021		Q		A		503/1139							YES	LCE1B,synonymous_variant,p.=,ENST00000360090,NM_178349.1;							LOW	27/357		LCE1B_HUMAN			Transcript			.	ENSP00000353203		CCDS1027.1			1	
MDN1	0	LGGM	GRCh37	6	90491232	90491232	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	49	23	.	.	ENST00000369393.3:c.1529A>C	p.Lys510Thr	p.K510T	ENST00000369393		510	aAa/aCa	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		72	1.845		HGNC	p.K510T		MDN1		SNV							ENST00000428876	protein_coding	getma.org/?cm=var&var=hg19,6,90491232,T,G&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		K/T		G	low	1645/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=459&re=658&var=K510T		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Lys510Thr,ENST00000369393,;MDN1,missense_variant,p.Lys510Thr,ENST00000428876,NM_014611.1;MDN1,missense_variant,p.Lys437Thr,ENST00000439638,;							MODERATE	1529/16791	K510T	MDN1_HUMAN			Transcript		possibly_damaging(0.601)	.	ENSP00000358400		CCDS5024.1			1	
SHPRH	0	LGGM	GRCh37	6	146275993	146275993	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	26	23	.	.	ENST00000367505.2:c.466A>G	p.Lys156Glu	p.K156E	ENST00000367505		156	Aaa/Gaa	0	1		UPI0000458A24	0	NA	ENST00000275233		ENSG00000146414	19336		49	-0.69		HGNC	p.K156E		SHPRH		SNV							ENST00000275233	protein_coding	getma.org/?cm=var&var=hg19,6,146275993,T,C&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF552		K/E		C	neutral	865/6649		getma.org/?cm=msa&ty=f&p=SHPRH_HUMAN&rb=1&re=267&var=K156E	tolerated_low_confidence(1)					SHPRH,missense_variant,p.Lys156Glu,ENST00000367503,NM_001042683.2;SHPRH,missense_variant,p.Lys156Glu,ENST00000367505,;SHPRH,missense_variant,p.Lys156Glu,ENST00000438092,NM_173082.3;SHPRH,missense_variant,p.Lys156Glu,ENST00000275233,;SHPRH,missense_variant,p.Lys134Glu,ENST00000433355,;SHPRH,splice_region_variant,,ENST00000519632,;SHPRH,upstream_gene_variant,,ENST00000521977,;							MODERATE	466/5052	K156E	SHPRH_HUMAN			Transcript		benign(0.001)	.	ENSP00000275233		CCDS43513.2			1	
CYP1A2	0	LGGM	GRCh37	15	75042592	75042592	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	45	24	.	.	ENST00000343932.4:c.513C>T	p.Ala171=	p.A171=	ENST00000343932	NM_000761.3	171	gcC/gcT	0	1	1	UPI0000073775	0		ENST00000343932		ENSG00000140505	2596		69			HGNC	p.A171A		CYP1A2		SNV			1				ENST00000343932	protein_coding			Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24299,hmmpanther:PTHR24299:SF7,Superfamily_domains:SSF48264		A		T		576/2728							YES	CYP1A2,synonymous_variant,p.=,ENST00000343932,NM_000761.3;							LOW	513/1551		CP1A2_HUMAN			Transcript			.	ENSP00000342007		CCDS32293.1			1	
IMPDH2	0	LGGM	GRCh37	3	49062111	49062111	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	46	25	.	.	ENST00000326739.4:c.1420A>C	p.Lys474Gln	p.K474Q	ENST00000326739	NM_000884.2	474	Aag/Cag	0	1	1	UPI000004A47A	0	getma.org/pdb.php?prot=IMDH2_HUMAN&from=28&to=504&var=K474Q	ENST00000326739		ENSG00000178035	6053		71	1.09		HGNC	p.K474Q		IMPDH2		SNV							ENST00000326739	protein_coding	getma.org/?cm=var&var=hg19,3,49062111,T,G&fts=all		HAMAP:MF_01964,Pfam_domain:PF00478,TIGRFAM_domain:TIGR01302,Gene3D:3.20.20.70,PIRSF_domain:PIRSF000130,Superfamily_domains:SSF51412		K/Q		G	low	1460/1643		getma.org/?cm=msa&ty=f&p=IMDH2_HUMAN&rb=28&re=504&var=K474Q	tolerated(0.25)	Q6RUP9_HUMAN,Q6RUP8_HUMAN			YES	IMPDH2,missense_variant,p.Lys474Gln,ENST00000326739,NM_000884.2;IMPDH2,missense_variant,p.Lys430Gln,ENST00000429182,;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,;							MODERATE	1420/1545	K474Q	IMDH2_HUMAN			Transcript		benign(0.014)	.	ENSP00000321584		CCDS2786.1			1	
SGK3	0	LGGM	GRCh37	8	67771679	67771679	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	111	25	.	.	ENST00000396596.1:c.1354G>A	p.Ala452Thr	p.A452T	ENST00000396596	NM_013257.4	452	Gca/Aca	0	1		UPI000013591F	0	NA	ENST00000345714		ENSG00000104205	10812		136	-0.11		HGNC	p.A452T		SGK3		SNV							ENST00000262211	protein_coding	getma.org/?cm=var&var=hg19,8,67771679,G,A&fts=all		PROSITE_profiles:PS51285,hmmpanther:PTHR24356:SF121,hmmpanther:PTHR24356,Pfam_domain:PF00433,SMART_domains:SM00133,Superfamily_domains:SSF56112		A/T		A	neutral	1477/4055		getma.org/?cm=msa&ty=f&p=SGK3_HUMAN&rb=439&re=491&var=A452T	deleterious(0.03)	Q6FHV7_HUMAN,E5RK28_HUMAN,E5RJV7_HUMAN,E5RHR8_HUMAN				SGK3,missense_variant,p.Ala452Thr,ENST00000396596,NM_013257.4;SGK3,missense_variant,p.Ala452Thr,ENST00000345714,;SGK3,missense_variant,p.Ala452Thr,ENST00000521198,NM_001033578.2;SGK3,missense_variant,p.Ala452Thr,ENST00000522398,;C8orf44-SGK3,missense_variant,p.Ala452Thr,ENST00000519289,NM_001204173.1;SGK3,missense_variant,p.Ala420Thr,ENST00000520976,NM_170709.2;							MODERATE	1354/1491	A452T	SGK3_HUMAN			Transcript		benign(0.006)	.	ENSP00000331816		CCDS6195.1			1	
ZFP62	0	LGGM	GRCh37	5	180276374	180276374	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	67	25	.	.	ENST00000502412.1:c.2121A>G	p.Gly707=	p.G707=	ENST00000502412	NM_001172638.1	707	ggA/ggG	0	1	1	UPI0001C53D24	0		ENST00000502412		ENSG00000196670	23241		92			HGNC	p.G674G		ZFP62		SNV							ENST00000512132	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24376,hmmpanther:PTHR24376:SF15,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		C		2179/3415				J3QSW3_HUMAN,D6RCF6_HUMAN,D6RBG3_HUMAN,D6R9C0_HUMAN			YES	ZFP62,synonymous_variant,p.=,ENST00000359141,NM_152283.4;ZFP62,synonymous_variant,p.=,ENST00000512132,;ZFP62,synonymous_variant,p.=,ENST00000502412,NM_001172638.1;ZFP62,downstream_gene_variant,,ENST00000504225,;ZFP62,downstream_gene_variant,,ENST00000506439,;ZFP62,downstream_gene_variant,,ENST00000509066,;ZFP62,intron_variant,,ENST00000506377,;ZFP62,non_coding_transcript_exon_variant,,ENST00000507843,;							LOW	2121/2703		ZFP62_HUMAN			Transcript			.	ENSP00000423820		CCDS54955.1			1	
SEC23IP	0	LGGM	GRCh37	10	121692680	121692680	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	27	26	.	.	ENST00000369075.3:c.2921+1G>A		p.X974_splice	ENST00000369075	NM_007190.3			0	1	1	UPI000006FCCE	0		ENST00000369075		ENSG00000107651	17018		53			HGNC	-		SEC23IP		SNV							ENST00000369075	protein_coding							A		-/4656							YES	SEC23IP,splice_donor_variant,,ENST00000369075,NM_007190.3;SEC23IP,splice_donor_variant,,ENST00000543134,;SEC23IP,splice_donor_variant,,ENST00000475542,;							HIGH	2921/3003		S23IP_HUMAN			Transcript			.	ENSP00000358071		CCDS7618.1			1	
HP	0	LGGM	GRCh37	16	72094344	72094344	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	35	26	.	.	ENST00000355906.5:c.776A>G	p.Asn259Ser	p.N259S	ENST00000355906	NM_005143.3	259	aAt/aGt	0	1	1	UPI000012CB71	0	getma.org/pdb.php?prot=HPT_HUMAN&from=162&to=399&var=N259S	ENST00000355906		ENSG00000257017	5141		61	-0.61		HGNC	p.N200S		HP		SNV			1				ENST00000570083	protein_coding	getma.org/?cm=var&var=hg19,16,72094344,A,G&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF25,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		N/S		G	neutral	834/1443		getma.org/?cm=msa&ty=f&p=HPT_HUMAN&rb=162&re=399&var=N259S	deleterious(0.03)	Q6PEJ8_HUMAN			YES	HP,missense_variant,p.Asn295Ser,ENST00000357763,;HP,missense_variant,p.Asn259Ser,ENST00000355906,NM_005143.3;HP,missense_variant,p.Asn200Ser,ENST00000570083,;HP,missense_variant,p.Asn200Ser,ENST00000398131,NM_001126102.1;HP,missense_variant,p.Asn257Ser,ENST00000567185,;HP,missense_variant,p.Asn218Ser,ENST00000567612,;HP,missense_variant,p.Asn200Ser,ENST00000565574,;HP,missense_variant,p.Asn160Ser,ENST00000564499,;HPR,intron_variant,,ENST00000356967,;HP,intron_variant,,ENST00000562526,;TXNL4B,intron_variant,,ENST00000562153,;HPR,upstream_gene_variant,,ENST00000540303,NM_020995.3;HP,downstream_gene_variant,,ENST00000576168,;HPR,upstream_gene_variant,,ENST00000561690,;HP,downstream_gene_variant,,ENST00000569639,;HP,downstream_gene_variant,,ENST00000568417,;HP,non_coding_transcript_exon_variant,,ENST00000566821,;HP,downstream_gene_variant,,ENST00000565807,;HP,downstream_gene_variant,,ENST00000561927,;HPR,upstream_gene_variant,,ENST00000566168,;HP,downstream_gene_variant,,ENST00000562488,;							MODERATE	776/1221	N259S	HPT_HUMAN			Transcript		benign(0.028)	.	ENSP00000348170		CCDS45524.1			1	
TUBB4B	0	LGGM	GRCh37	9	140137816	140137816	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	68	26	.	.	ENST00000340384.4:c.1146C>G	p.Ser382=	p.S382=	ENST00000340384	NM_006088.5	382	tcC/tcG	0	1	1	UPI000000D966	0		ENST00000340384		ENSG00000188229	20771		94			HGNC	p.S382S		TUBB4B		SNV							ENST00000340384	protein_coding			Gene3D:1.10.287.600,Pfam_domain:PF03953,Prints_domain:PR01161,Prints_domain:PR01163,hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF54,SMART_domains:SM00865,Superfamily_domains:SSF55307		S		G		1294/1637				Q96HX0_HUMAN			YES	TUBB4B,synonymous_variant,p.=,ENST00000340384,NM_006088.5;FAM166A,downstream_gene_variant,,ENST00000344774,NM_001001710.1;FAM166A,downstream_gene_variant,,ENST00000388932,;FAM166A,downstream_gene_variant,,ENST00000484720,;TUBB4B,non_coding_transcript_exon_variant,,ENST00000604929,;FAM166A,downstream_gene_variant,,ENST00000471784,;							LOW	1146/1338		TBB4B_HUMAN			Transcript			.	ENSP00000341289		CCDS7039.1			1	
KDM3B	0	LGGM	GRCh37	5	137762878	137762878	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	29	26	.	.	ENST00000314358.5:c.4503G>T	p.Arg1501Ser	p.R1501S	ENST00000314358	NM_016604.3	1501	agG/agT	0	1	1	UPI000020C6A8	0	NA	ENST00000314358		ENSG00000120733	1337		55	3.065		HGNC	p.R1157S		KDM3B		SNV							ENST00000394866	protein_coding	getma.org/?cm=var&var=hg19,5,137762878,G,T&fts=all		PROSITE_profiles:PS51184,hmmpanther:PTHR12549,hmmpanther:PTHR12549:SF8,SMART_domains:SM00558,Superfamily_domains:SSF51197		R/S		T	medium	4703/6813		getma.org/?cm=msa&ty=f&p=KDM3B_HUMAN&rb=1498&re=1721&var=R1501S	deleterious(0)	F5H275_HUMAN			YES	KDM3B,missense_variant,p.Arg1501Ser,ENST00000314358,NM_016604.3;KDM3B,missense_variant,p.Arg1157Ser,ENST00000394866,;KDM3B,missense_variant,p.Arg533Ser,ENST00000542866,;KDM3B,splice_region_variant,,ENST00000510866,;KDM3B,splice_region_variant,,ENST00000507996,;KDM3B,splice_region_variant,,ENST00000509468,;KDM3B,downstream_gene_variant,,ENST00000505756,;							MODERATE	4503/5286	R1501S	KDM3B_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000326563		CCDS34242.1			1	
PJA2	0	LGGM	GRCh37	5	108698639	108698639	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	27	.	.	ENST00000361189.2:c.1554A>C	p.Glu518Asp	p.E518D	ENST00000361189	NM_014819.4	518	gaA/gaC	0	1	1	UPI000013D192	0	NA	ENST00000361189		ENSG00000198961	17481	0.003	49	0.755		HGNC	p.E518D	rs767951785	PJA2	0.00194	SNV				0.0124			ENST00000361189	protein_coding	getma.org/?cm=var&var=hg19,5,108698639,T,G&fts=all		hmmpanther:PTHR15710,hmmpanther:PTHR15710:SF5		E/D		G	neutral	1794/4889	0.00974	getma.org/?cm=msa&ty=f&p=PJA2_HUMAN&rb=1&re=546&var=E518D	tolerated(1)				YES	PJA2,missense_variant,p.Glu518Asp,ENST00000361189,NM_014819.4;PJA2,missense_variant,p.Glu518Asp,ENST00000361557,;	0.014						MODERATE	1554/2127	E518D	PJA2_HUMAN	0.0316		Transcript		benign(0.017)	common_variant	ENSP00000354775	0.00965	CCDS4099.1	0.0203		1	
C16orf46	0	LGGM	GRCh37	16	81097495	81097495	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	46	27	.	.	ENST00000299578.5:c.66A>G	p.Thr22=	p.T22=	ENST00000299578	NM_152337.2	22	acA/acG	0	1	1	UPI000013E5BE	0		ENST00000299578		ENSG00000166455	26525		73			HGNC	p.T22T		C16orf46		SNV							ENST00000299578	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15032		T		C		302/1598				H3BQQ0_HUMAN,B4DI50_HUMAN			YES	C16orf46,synonymous_variant,p.=,ENST00000378611,NM_001100873.1;C16orf46,synonymous_variant,p.=,ENST00000299578,NM_152337.2;C16orf46,synonymous_variant,p.=,ENST00000565253,;RP11-303E16.8,intron_variant,,ENST00000564536,;C16orf46,intron_variant,,ENST00000444657,;							LOW	66/1188		CP046_HUMAN			Transcript			.	ENSP00000299578		CCDS10932.1			1	
RNF6	0	LGGM	GRCh37	13	26789223	26789223	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112352	H112352N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	46	28	.	.	ENST00000381588.4:c.796G>C	p.Glu266Gln	p.E266Q	ENST00000381588	NM_005977.3	266	Gaa/Caa	0	1		UPI0000000A0A	0	NA	ENST00000346166		ENSG00000127870	10069		74	1.355		HGNC	p.E266Q		RNF6		SNV			1				ENST00000381588	protein_coding	getma.org/?cm=var&var=hg19,13,26789223,C,G&fts=all		hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF4		E/Q		G	low	958/3276		getma.org/?cm=msa&ty=f&p=RNF6_HUMAN&rb=165&re=383&var=E266Q	tolerated(0.15)					RNF6,missense_variant,p.Glu266Gln,ENST00000381588,NM_005977.3;RNF6,missense_variant,p.Glu266Gln,ENST00000381570,NM_183044.2;RNF6,missense_variant,p.Glu266Gln,ENST00000346166,NM_183043.2;RNF6,intron_variant,,ENST00000399762,;RNF6,intron_variant,,ENST00000468480,;RNF6,downstream_gene_variant,,ENST00000498039,;RNF6,downstream_gene_variant,,ENST00000476347,;							MODERATE	796/2058	E266Q	RNF6_HUMAN			Transcript		benign(0.296)	.	ENSP00000342121		CCDS9316.1			1	
TMEM209	0	LGGM	GRCh37	7	129818297	129818297	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	28	28	.	.	ENST00000397622.2:c.1191C>G	p.Ile397Met	p.I397M	ENST00000397622	NM_032842.3	397	atC/atG	0	1	1	UPI000020FAA2	0	NA	ENST00000397622		ENSG00000146842	21898		56	2.125		HGNC	p.I396M		TMEM209		SNV							ENST00000462753	protein_coding	getma.org/?cm=var&var=hg19,7,129818297,G,C&fts=all		Pfam_domain:PF09786,hmmpanther:PTHR21780,hmmpanther:PTHR21780:SF0		I/M		C	medium	1314/3545		getma.org/?cm=msa&ty=f&p=TM209_HUMAN&rb=7&re=561&var=I397M	deleterious(0)	C9J5K4_HUMAN			YES	TMEM209,missense_variant,p.Ile397Met,ENST00000397622,NM_032842.3;TMEM209,missense_variant,p.Ile396Met,ENST00000462753,;TMEM209,intron_variant,,ENST00000336804,;TMEM209,intron_variant,,ENST00000473456,;RP11-775D22.3,intron_variant,,ENST00000483283,;TMEM209,non_coding_transcript_exon_variant,,ENST00000479804,;TMEM209,downstream_gene_variant,,ENST00000467599,;							MODERATE	1191/1686	I397M	TM209_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000380747		CCDS47712.1			1	
ZFHX4	0	LGGM	GRCh37	8	77768383	77768383	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	71	29	.	.	ENST00000521891.2:c.9226T>A	p.Leu3076Met	p.L3076M	ENST00000521891	NM_024721.4	3076	Ttg/Atg	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		100	1.995		HGNC	p.L3031M		ZFHX4		SNV							ENST00000455469	protein_coding	getma.org/?cm=var&var=hg19,8,77768383,T,A&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40		L/M		A	medium	9674/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=2961&re=3565&var=L3031M		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Leu3076Met,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Leu3031Met,ENST00000455469,;ZFHX4,missense_variant,p.Leu3050Met,ENST00000518282,;ZFHX4,missense_variant,p.Leu3031Met,ENST00000050961,;							MODERATE	9226/10851	L3031M				Transcript		possibly_damaging(0.904)	.	ENSP00000430497		CCDS47878.2			1	
NUGGC	0	LGGM	GRCh37	8	27917809	27917809	+	intron_variant	Intron	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	95	30	.	.	ENST00000413272.2:c.1097+134A>C		*366*	ENST00000413272	NM_001010906.1			0	1	1	UPI0000237454	0		ENST00000413272		ENSG00000189233	33550		125			HGNC	p.R369S		NUGGC		SNV							ENST00000341513	protein_coding							G		-/3887							YES	NUGGC,missense_variant,p.Arg369Ser,ENST00000341513,;NUGGC,intron_variant,,ENST00000413272,NM_001010906.1;							MODIFIER	-/2391		SLIP_HUMAN			Transcript			.	ENSP00000408697		CCDS47833.1			1	
CLCN5	0	LGGM	GRCh37	X	49853443	49853443	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	12	31	.	.	ENST00000376088.3:c.1646A>G	p.Tyr549Cys	p.Y549C	ENST00000376088	NM_001127899.2	549	tAc/tGc	0	1		UPI0000127A9B	0	getma.org/pdb.php?prot=CLCN5_HUMAN&from=149&to=551&var=Y479C	ENST00000307367		ENSG00000171365	2023		43	2.16		HGNC	p.Y479C		CLCN5		SNV			1				ENST00000376108	protein_coding	getma.org/?cm=var&var=hg19,X,49853443,A,G&fts=all		Gene3D:1otsB00,Pfam_domain:PF00654,hmmpanther:PTHR11689,hmmpanther:PTHR11689:SF63,Superfamily_domains:SSF81340		Y/C		G	medium	1727/3177		getma.org/?cm=msa&ty=f&p=CLCN5_HUMAN&rb=149&re=551&var=Y479C	tolerated(0.16)					CLCN5,missense_variant,p.Tyr549Cys,ENST00000376088,NM_001127899.2,NM_001127898.2;CLCN5,missense_variant,p.Tyr479Cys,ENST00000307367,;CLCN5,missense_variant,p.Tyr549Cys,ENST00000376091,;CLCN5,missense_variant,p.Tyr479Cys,ENST00000376108,NM_000084.3;							MODERATE	1436/2241	Y479C	CLCN5_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000304257		CCDS14328.1			1	
MYO10	0	LGGM	GRCh37	5	16694671	16694671	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	64	31	.	.	ENST00000513610.1:c.3609C>A	p.Thr1203=	p.T1203=	ENST00000513610	NM_012334.2	1203	acC/acA	0	1	1	UPI0001597062	0		ENST00000513610		ENSG00000145555	7593		95			HGNC	p.T542T		MYO10		SNV							ENST00000515803	protein_coding			Superfamily_domains:SSF50729,Gene3D:2.30.29.30		T		T		4064/8038				E9PEW5_HUMAN,E7EPL7_HUMAN,B4E0P0_HUMAN			YES	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,;							LOW	3609/6177		MYO10_HUMAN			Transcript			.	ENSP00000421280		CCDS54834.1			1	
PLCZ1	0	LGGM	GRCh37	12	18852767	18852767	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	33	33	.	.	ENST00000266505.7:c.1135A>G	p.Ile379Val	p.I379V	ENST00000266505		379	Att/Gtt	0	1	1	UPI000000D7E3	0	getma.org/pdb.php?prot=PLCZ1_HUMAN&from=348&to=465&var=I379V	ENST00000266505		ENSG00000139151	19218	0.000174	66	1.07		HGNC	p.I186V	rs751212547	PLCZ1		SNV							ENST00000539875	protein_coding	getma.org/?cm=var&var=hg19,12,18852767,T,C&fts=all		PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF29,hmmpanther:PTHR10336,Pfam_domain:PF00387,Gene3D:3.20.20.190,SMART_domains:SM00149,Superfamily_domains:SSF51695		I/V		C	low	1399/2148		getma.org/?cm=msa&ty=f&p=PLCZ1_HUMAN&rb=348&re=465&var=I379V	tolerated(0.1)	F5H828_HUMAN,F5H474_HUMAN,F5H3L4_HUMAN,F5H2Y6_HUMAN,F5GZK3_HUMAN			YES	PLCZ1,missense_variant,p.Ile377Val,ENST00000447925,NM_033123.3;PLCZ1,missense_variant,p.Ile379Val,ENST00000266505,;PLCZ1,missense_variant,p.Ile242Val,ENST00000541695,;PLCZ1,missense_variant,p.Ile161Val,ENST00000538330,;PLCZ1,missense_variant,p.Ile184Val,ENST00000435379,;PLCZ1,missense_variant,p.Ile186Val,ENST00000539875,;PLCZ1,missense_variant,p.Ile114Val,ENST00000540421,;PLCZ1,missense_variant,p.Ile120Val,ENST00000543242,;PLCZ1,downstream_gene_variant,,ENST00000539072,;PLCZ1,upstream_gene_variant,,ENST00000534932,;PLCZ1,upstream_gene_variant,,ENST00000536023,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000542762,;PLCZ1,missense_variant,p.Ile251Val,ENST00000540270,;PLCZ1,3_prime_UTR_variant,,ENST00000318197,;PLCZ1,non_coding_transcript_exon_variant,,ENST00000540515,;PLCZ1,upstream_gene_variant,,ENST00000543219,;							MODERATE	1135/1827	I379V	PLCZ1_HUMAN			Transcript		possibly_damaging(0.641)	.	ENSP00000266505	1.65E-05	CCDS8680.1			1	
BPTF	0	LGGM	GRCh37	17	65882266	65882266	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	56	41	.	.	ENST00000306378.6:c.1865-5694G>T		*622*	ENST00000306378	NM_182641.3			0	1		UPI0001838807	0	NA	ENST00000321892		ENSG00000171634	3581		97	-0.345		HGNC	p.E692D		BPTF		SNV							ENST00000321892	protein_coding	getma.org/?cm=var&var=hg19,17,65882266,G,T&fts=all		hmmpanther:PTHR22880:SF5,hmmpanther:PTHR22880		E/D		T	neutral	2137/11292		getma.org/?cm=msa&ty=f&p=BPTF_HUMAN&rb=638&re=837&var=E692D						BPTF,missense_variant,p.Glu692Asp,ENST00000321892,;BPTF,missense_variant,p.Glu692Asp,ENST00000335221,NM_004459.6;BPTF,missense_variant,p.Glu553Asp,ENST00000424123,;BPTF,missense_variant,p.Glu42Asp,ENST00000544491,;BPTF,intron_variant,,ENST00000306378,NM_182641.3;BPTF,intron_variant,,ENST00000544778,;							MODERATE	2076/9141	E692D	BPTF_HUMAN			Transcript		benign(0.001)	.	ENSP00000315454					1	
SEMA6A	0	LGGM	GRCh37	5	115822571	115822571	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	88	41	.	.	ENST00000343348.6:c.836C>A	p.Ala279Glu	p.A279E	ENST00000343348	NM_020796.3	279	gCg/gAg	0	1	1	UPI000020C463	0	getma.org/pdb.php?prot=SEM6A_HUMAN&from=56&to=491&var=A279E	ENST00000343348		ENSG00000092421	10738		129	3.855		HGNC	p.A279E		SEMA6A		SNV							ENST00000257414	protein_coding	getma.org/?cm=var&var=hg19,5,115822571,G,T&fts=all		Superfamily_domains:SSF101912,SMART_domains:SM00630,Pfam_domain:PF01403,Gene3D:2.130.10.10,hmmpanther:PTHR11036:SF12,hmmpanther:PTHR11036,PROSITE_profiles:PS51004		A/E		T	high	1624/6878		getma.org/?cm=msa&ty=f&p=SEM6A_HUMAN&rb=56&re=491&var=A279E	deleterious(0)	D6RCR0_HUMAN,D6RAG9_HUMAN			YES	SEMA6A,missense_variant,p.Ala279Glu,ENST00000343348,NM_020796.3;SEMA6A,missense_variant,p.Ala279Glu,ENST00000257414,;SEMA6A,missense_variant,p.Ala279Glu,ENST00000510263,;SEMA6A,downstream_gene_variant,,ENST00000515009,;CTB-118N6.3,intron_variant,,ENST00000514214,;CTB-118N6.3,intron_variant,,ENST00000508640,;CTB-118N6.3,intron_variant,,ENST00000510682,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000502996,;SEMA6A,downstream_gene_variant,,ENST00000503962,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000503402,;SEMA6A,non_coding_transcript_exon_variant,,ENST00000510024,;							MODERATE	836/3093	A279E	SEM6A_HUMAN			Transcript		probably_damaging(0.929)	.	ENSP00000345512		CCDS47256.1			1	
CD55	0	LGGM	GRCh37	1	207495862	207495862	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	22	41	.	.	ENST00000314754.8:c.236T>G	p.Val79Gly	p.V79G	ENST00000314754	NM_001114752.1	79	gTg/gGg	0	1		UPI0000032E67	0	getma.org/pdb.php?prot=DAF_HUMAN&from=36&to=94&var=V79G	ENST00000367064		ENSG00000196352	2665		63	2.71		HGNC	p.V79G		CD55		SNV			1				ENST00000482390	protein_coding	getma.org/?cm=var&var=hg19,1,207495862,T,G&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325:SF319,hmmpanther:PTHR19325,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		V/G		G	medium	494/2760		getma.org/?cm=msa&ty=f&p=DAF_HUMAN&rb=36&re=94&var=V79G	deleterious(0)	Q76N74_HUMAN				CD55,missense_variant,p.Val79Gly,ENST00000367064,NM_000574.3;CD55,missense_variant,p.Val79Gly,ENST00000391921,;CD55,missense_variant,p.Val79Gly,ENST00000314754,NM_001114752.1;CD55,missense_variant,p.Val79Gly,ENST00000367063,;CD55,missense_variant,p.Val79Gly,ENST00000367065,;CD55,missense_variant,p.Val79Gly,ENST00000391920,;CD55,missense_variant,p.Val79Gly,ENST00000367062,;CD55,missense_variant,p.Val79Gly,ENST00000367067,;CD55,missense_variant,p.Val89Gly,ENST00000343420,;CD55,upstream_gene_variant,,ENST00000465534,;CD55,missense_variant,p.Val79Gly,ENST00000482390,;CD55,non_coding_transcript_exon_variant,,ENST00000488171,;CD55,upstream_gene_variant,,ENST00000476590,;							MODERATE	236/1146	V79G	DAF_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000356031		CCDS31006.1			1	
VEZT	0	LGGM	GRCh37	12	95676161	95676161	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	49	44	.	.	ENST00000436874.1:c.1069A>G	p.Asn357Asp	p.N357D	ENST00000436874	NM_017599.3	357	Aat/Gat	0	1	1	UPI00001FB2EC	0	NA	ENST00000436874		ENSG00000028203	18258		93	1.79		HGNC	p.N357D		VEZT		SNV							ENST00000436874	protein_coding	getma.org/?cm=var&var=hg19,12,95676161,A,G&fts=all		Pfam_domain:PF12632,hmmpanther:PTHR15989,hmmpanther:PTHR15989:SF5		N/D		G	low	1174/4562		getma.org/?cm=msa&ty=f&p=VEZA_HUMAN&rb=149&re=440&var=N357D	tolerated(0.16)				YES	VEZT,missense_variant,p.Asn357Asp,ENST00000436874,NM_017599.3;VEZT,missense_variant,p.Asn309Asp,ENST00000261219,;VEZT,missense_variant,p.Asn313Asp,ENST00000397792,;VEZT,non_coding_transcript_exon_variant,,ENST00000356859,;VEZT,non_coding_transcript_exon_variant,,ENST00000550106,;VEZT,non_coding_transcript_exon_variant,,ENST00000546398,;VEZT,intron_variant,,ENST00000551695,;VEZT,3_prime_UTR_variant,,ENST00000547997,;VEZT,3_prime_UTR_variant,,ENST00000552660,;VEZT,3_prime_UTR_variant,,ENST00000551994,;VEZT,3_prime_UTR_variant,,ENST00000547611,;VEZT,non_coding_transcript_exon_variant,,ENST00000549192,;VEZT,non_coding_transcript_exon_variant,,ENST00000552827,;VEZT,intron_variant,,ENST00000548838,;VEZT,intron_variant,,ENST00000548371,;CBX3P5,downstream_gene_variant,,ENST00000552017,;							MODERATE	1069/2340	N357D	VEZA_HUMAN			Transcript		benign(0.137)	.	ENSP00000410083		CCDS44954.1			1	
EIF4B	0	LGGM	GRCh37	12	53428413	53428413	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	87	44	.	.	ENST00000262056.9:c.1226G>C	p.Ser409Thr	p.S409T	ENST00000262056	NM_001417.4	409	aGt/aCt	0	1	1	UPI000006F988	0	NA	ENST00000262056		ENSG00000063046	3285		131	2.095		HGNC	p.S409T		EIF4B		SNV							ENST00000420463	protein_coding	getma.org/?cm=var&var=hg19,12,53428413,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23236,hmmpanther:PTHR23236:SF8		S/T		C	medium	1552/4148		getma.org/?cm=msa&ty=f&p=IF4B_HUMAN&rb=249&re=609&var=S409T	tolerated(0.09)				YES	EIF4B,missense_variant,p.Ser409Thr,ENST00000262056,NM_001417.4;EIF4B,missense_variant,p.Ser370Thr,ENST00000416762,;EIF4B,missense_variant,p.Ser409Thr,ENST00000420463,;EIF4B,downstream_gene_variant,,ENST00000549481,;RP11-983P16.4,intron_variant,,ENST00000552905,;RP11-983P16.4,downstream_gene_variant,,ENST00000546566,;EIF4B,3_prime_UTR_variant,,ENST00000550704,;EIF4B,upstream_gene_variant,,ENST00000549592,;EIF4B,upstream_gene_variant,,ENST00000553209,;							MODERATE	1226/1836	S409T	IF4B_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000262056		CCDS41788.1			1	
MPDZ	0	LGGM	GRCh37	9	13126747	13126747	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112352	H112352N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	31	45	.	.	ENST00000541718.1:c.4489A>G	p.Ile1497Val	p.I1497V	ENST00000541718	NM_001261407.1	1497	Atc/Gtc	0	1		UPI0000211133	0	getma.org/pdb.php?prot=MPDZ_HUMAN&from=1482&to=1561&var=I1497V	ENST00000319217		ENSG00000107186	7208		76	1.07		HGNC	p.I1464V	rs749945198	MPDZ		SNV			1				ENST00000536827	protein_coding	getma.org/?cm=var&var=hg19,9,13126747,T,C&fts=all		Gene3D:2.30.42.10,Pfam_domain:PF00595,PROSITE_profiles:PS50106,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF10,SMART_domains:SM00228,Superfamily_domains:SSF50156		I/V		C	low	4737/7722	1.50E-05	getma.org/?cm=msa&ty=f&p=MPDZ_HUMAN&rb=1482&re=1561&var=I1497V	tolerated(0.08)	B3KRN5_HUMAN,B3KQC9_HUMAN				MPDZ,missense_variant,p.Ile1497Val,ENST00000319217,NM_001261406.1;MPDZ,missense_variant,p.Ile1497Val,ENST00000541718,NM_001261407.1,NM_003829.4;MPDZ,missense_variant,p.Ile1497Val,ENST00000381022,;MPDZ,missense_variant,p.Ile1497Val,ENST00000381015,;MPDZ,missense_variant,p.Ile1511Val,ENST00000546205,;MPDZ,missense_variant,p.Ile1464Val,ENST00000447879,;MPDZ,missense_variant,p.Ile1464Val,ENST00000536827,;MPDZ,missense_variant,p.Ile433Val,ENST00000545857,;MPDZ,missense_variant,p.Ile356Val,ENST00000538841,;MPDZ,missense_variant,p.Ile66Val,ENST00000438511,;MPDZ,5_prime_UTR_variant,,ENST00000541093,;MPDZ,3_prime_UTR_variant,,ENST00000542806,;MPDZ,3_prime_UTR_variant,,ENST00000535169,;MPDZ,non_coding_transcript_exon_variant,,ENST00000539508,;MPDZ,non_coding_transcript_exon_variant,,ENST00000319198,;MPDZ,upstream_gene_variant,,ENST00000437441,;							MODERATE	4489/6213	I1497V	MPDZ_HUMAN			Transcript		benign(0.012)	.	ENSP00000320006	8.28E-06				1	
TTN	0	LGGM	GRCh37	2	179584032	179584032	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112352	H112352N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	79	54	.	.	ENST00000589042.1:c.24085C>G	p.Pro8029Ala	p.P8029A	ENST00000589042	NM_001267550.1	8029	Ccc/Gcc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=D3DPG0_HUMAN&from=7668&to=7757&var=P7712A	ENST00000591111		ENSG00000155657	12403		133	1.015		HGNC	p.P6785A		TTN		SNV			1				ENST00000342992	protein_coding	getma.org/?cm=var&var=hg19,2,179584032,G,C&fts=all		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		P/A		C	low	23359/104301		getma.org/?cm=msa&ty=f&p=D3DPG0_HUMAN&rb=7668&re=7757&var=P7712A		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro8029Ala,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Pro7712Ala,ENST00000591111,;TTN,missense_variant,p.Pro6785Ala,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,;							MODERATE	23134/103053	P7712A	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
ETV7	0	LGGM	GRCh37	6	36334702	36334702	+	stop_gained	Nonsense_Mutation	SNP	A	A	C	novel	by Submitter	H112352	H112352N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112352N.bam, H112352T.bam	Illumina HiSeq	79	130	.	.	ENST00000340181.4:c.858T>G	p.Tyr286Ter	p.Y286*	ENST00000340181	NM_001207040.1	286	taT/taG	0	1	1	UPI0000001C49	0	NA	ENST00000340181		ENSG00000010030	18160		209	0		HGNC	p.Y209X		ETV7		SNV							ENST00000373737	protein_coding	getma.org/?cm=var&var=hg19,6,36334702,A,C&fts=all		PROSITE_profiles:PS50061,hmmpanther:PTHR11849,hmmpanther:PTHR11849:SF77,PROSITE_patterns:PS00346,Pfam_domain:PF00178,Gene3D:1.10.10.10,SMART_domains:SM00413,Superfamily_domains:SSF46785,Prints_domain:PR00454		Y/*		C	NA	1100/1719		NA					YES	ETV7,stop_gained,p.Tyr231Ter,ENST00000373738,NM_001207036.1;ETV7,stop_gained,p.Tyr286Ter,ENST00000339796,NM_001207035.1;ETV7,stop_gained,p.Tyr286Ter,ENST00000340181,NM_001207040.1,NM_016135.3,NM_001207037.1;ETV7,stop_gained,p.Tyr209Ter,ENST00000373737,NM_001207038.1;ETV7,stop_gained,p.Tyr135Ter,ENST00000538992,NM_001207041.1;							HIGH	858/1026	Y286*	ETV7_HUMAN			Transcript			.	ENSP00000341843		CCDS4819.1			1	
KDM5A	0	LGGM	GRCh37	12	432362	432362	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	2	.	.	ENST00000399788.2:c.2161C>T	p.Pro721Ser	p.P721S	ENST00000399788	NM_001042603.1	721	Cca/Tca	0	1	1	UPI0000DB2E73	0	NA	ENST00000399788		ENSG00000073614	9886		13	-1.905		HGNC	p.P721S		KDM5A		SNV							ENST00000382815	protein_coding	getma.org/?cm=var&var=hg19,12,432362,G,A&fts=all		hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17,Pfam_domain:PF02928		P/S		A	neutral	2524/10763		getma.org/?cm=msa&ty=f&p=KDM5A_HUMAN&rb=676&re=729&var=P721S	tolerated(0.11)				YES	KDM5A,missense_variant,p.Pro721Ser,ENST00000399788,NM_001042603.1;KDM5A,missense_variant,p.Pro721Ser,ENST00000382815,;KDM5A,missense_variant,p.Pro340Ser,ENST00000544760,;KDM5A,downstream_gene_variant,,ENST00000540168,;KDM5A,upstream_gene_variant,,ENST00000541335,;							MODERATE	2161/5073	P721S	KDM5A_HUMAN			Transcript		benign(0.001)	.	ENSP00000382688		CCDS41736.1			1	
STK36	0	LGGM	GRCh37	2	219554595	219554595	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	4	2	.	.	ENST00000295709.3:c.1574G>A	p.Gly525Glu	p.G525E	ENST00000295709	NM_015690.4	525	gGg/gAg	0	1	1	UPI00000342FC	0	NA	ENST00000295709		ENSG00000163482	17209		6	0.695		HGNC	p.G525E		STK36		SNV							ENST00000392106	protein_coding	getma.org/?cm=var&var=hg19,2,219554595,G,A&fts=all		hmmpanther:PTHR22983:SF6,hmmpanther:PTHR22983,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		G/E		A	neutral	1853/4933		getma.org/?cm=msa&ty=f&p=STK36_HUMAN&rb=381&re=1106&var=G525E	tolerated(0.15)	C9JDA4_HUMAN,C9J1B8_HUMAN			YES	STK36,missense_variant,p.Gly525Glu,ENST00000295709,NM_015690.4;STK36,missense_variant,p.Gly525Glu,ENST00000392106,;STK36,missense_variant,p.Gly525Glu,ENST00000392105,NM_001243313.1;STK36,missense_variant,p.Gly525Glu,ENST00000440309,;STK36,non_coding_transcript_exon_variant,,ENST00000480709,;STK36,intron_variant,,ENST00000422778,;STK36,upstream_gene_variant,,ENST00000486644,;STK36,upstream_gene_variant,,ENST00000492486,;STK36,downstream_gene_variant,,ENST00000470568,;STK36,downstream_gene_variant,,ENST00000414413,;STK36,upstream_gene_variant,,ENST00000473681,;							MODERATE	1574/3948	G525E	STK36_HUMAN			Transcript		benign(0.15)	.	ENSP00000295709		CCDS2421.1			1	
USP17L17	0	LGGM	GRCh37	4	9245617	9245617	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	2	.	.	ENST00000511568.1:c.13T>C	p.Ser5Pro	p.S5P	ENST00000511568	NM_001256857.1	5	Tca/Cca	0	1	1	UPI0000160391	0	NA	ENST00000511568		ENSG00000249104	44445	0.00917	10	0.55		HGNC	p.S5P	rs770871806	USP17L17	0.00403	SNV				0.00472			ENST00000511568	protein_coding	getma.org/?cm=var&var=hg19,4,9245617,T,C&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF382		S/P		C	neutral	13/1593	0.00788	getma.org/?cm=msa&ty=f&p=D6RBM5_HUMAN&rb=1&re=77&var=S5P	deleterious(0.02)				YES	USP17L17,missense_variant,p.Ser5Pro,ENST00000511568,NM_001256857.1;USP17L18,upstream_gene_variant,,ENST00000504209,NM_001256859.1;USP17L16P,downstream_gene_variant,,ENST00000507155,;	0.00778						MODERATE	13/1593	S5P	U17LH_HUMAN	0.00667		Transcript		probably_damaging(0.918)	common_variant	ENSP00000422621	0.00155	CCDS59458.1			1	
ANKRD11	0	LGGM	GRCh37	16	89347343	89347343	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	2	.	.	ENST00000301030.4:c.5607G>C	p.Pro1869=	p.P1869=	ENST00000301030	NM_001256183.1	1869	ccG/ccC	0	1	1	UPI00004569E1	0		ENST00000301030		ENSG00000167522	21316		16			HGNC	p.P1869P		ANKRD11		SNV			1				ENST00000301030	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24145		P		G		6068/9301							YES	ANKRD11,synonymous_variant,p.=,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,synonymous_variant,p.=,ENST00000378330,NM_001256182.1;ANKRD11,intron_variant,,ENST00000562194,;ANKRD11,3_prime_UTR_variant,,ENST00000330736,;ANKRD11,downstream_gene_variant,,ENST00000568100,;							LOW	5607/7992		ANR11_HUMAN			Transcript			.	ENSP00000301030		CCDS32513.1			1	
NCDN	0	LGGM	GRCh37	1	36031070	36031070	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	2	2	.	.	ENST00000373243.2:c.1996G>A	p.Glu666Lys	p.E666K	ENST00000373243	NM_014284.2	666	Gag/Aag	0	1		UPI000007147C	0	NA	ENST00000356090		ENSG00000020129	17597		4	0.55		HGNC	p.E666K		NCDN		SNV							ENST00000356090	protein_coding	getma.org/?cm=var&var=hg19,1,36031070,G,A&fts=all		hmmpanther:PTHR13109		E/K		A	neutral	2123/3433		getma.org/?cm=msa&ty=f&p=NCDN_HUMAN&rb=638&re=729&var=E666K	tolerated(0.68)	C9J5H8_HUMAN,B4DJ92_HUMAN				NCDN,missense_variant,p.Glu666Lys,ENST00000373243,NM_014284.2;NCDN,missense_variant,p.Glu649Lys,ENST00000373253,NM_001014841.1;NCDN,missense_variant,p.Glu666Lys,ENST00000356090,NM_001014839.1;NCDN,intron_variant,,ENST00000423723,;NCDN,downstream_gene_variant,,ENST00000437806,;RP4-728D4.2,downstream_gene_variant,,ENST00000444348,;RP4-728D4.2,downstream_gene_variant,,ENST00000425881,;NCDN,downstream_gene_variant,,ENST00000459931,;							MODERATE	1996/2190	E666K	NCDN_HUMAN			Transcript		benign(0.173)	.	ENSP00000348394		CCDS392.1			1	
SYT3	0	LGGM	GRCh37	19	51132720	51132720	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	2	.	.	ENST00000338916.4:c.1112C>A	p.Ser371Ter	p.S371*	ENST00000338916	NM_032298.2	371	tCg/tAg	0	1	1	UPI0000047AEB	0	NA	ENST00000338916		ENSG00000213023	11511		9	0		HGNC	p.S371X		SYT3		SNV							ENST00000544769	protein_coding	getma.org/?cm=var&var=hg19,19,51132720,G,T&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,Prints_domain:PR00360,PROSITE_profiles:PS50004,hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF176,SMART_domains:SM00239,Superfamily_domains:SSF49562		S/*		T	NA	1746/2915		NA		M0QY70_HUMAN			YES	SYT3,stop_gained,p.Ser371Ter,ENST00000338916,NM_032298.2;SYT3,stop_gained,p.Ser371Ter,ENST00000544769,;SYT3,stop_gained,p.Ser371Ter,ENST00000593901,NM_001160328.1;SYT3,stop_gained,p.Ser371Ter,ENST00000600079,NM_001160329.1;SYT3,downstream_gene_variant,,ENST00000598997,;SYT3,upstream_gene_variant,,ENST00000595117,;SYT3,upstream_gene_variant,,ENST00000595557,;							HIGH	1112/1773	S371*	SYT3_HUMAN			Transcript			.	ENSP00000340914		CCDS12798.1			1	
SCAF11	0	LGGM	GRCh37	12	46316938	46316938	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	3	.	.	ENST00000369367.3:c.3907-1G>T		p.X1303_splice	ENST00000369367	NM_004719.2			0	1	1	UPI0000D481F2	0		ENST00000369367		ENSG00000139218	10784		43			HGNC	-		SCAF11		SNV							ENST00000369367	protein_coding							A		-/5265				F8VXG7_HUMAN			YES	SCAF11,splice_acceptor_variant,,ENST00000465950,;SCAF11,splice_acceptor_variant,,ENST00000369367,NM_004719.2;SCAF11,splice_acceptor_variant,,ENST00000419565,;SCAF11,splice_acceptor_variant,,ENST00000549162,;SCAF11,splice_acceptor_variant,,ENST00000550629,;SCAF11,upstream_gene_variant,,ENST00000547654,;SCAF11,non_coding_transcript_exon_variant,,ENST00000550893,;SCAF11,downstream_gene_variant,,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000547950,;							HIGH	3907/4392		SCAFB_HUMAN			Transcript			.	ENSP00000358374		CCDS8748.2			1	
LDB3	0	LGGM	GRCh37	10	88452330	88452330	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	3	.	.	ENST00000429277.2:c.1100+2T>C		p.X367_splice	ENST00000429277	NM_001171610.1			0	1		UPI000034ECFC	0		ENST00000361373		ENSG00000122367	15710		45			HGNC	-		LDB3		SNV			1				ENST00000539402	protein_coding							C		-/5297								LDB3,splice_donor_variant,,ENST00000429277,NM_001171610.1;LDB3,splice_donor_variant,,ENST00000361373,NM_007078.2;LDB3,splice_donor_variant,,ENST00000458213,;LDB3,splice_donor_variant,,ENST00000263066,NM_001080114.1;LDB3,splice_donor_variant,,ENST00000372056,NM_001171611.1;LDB3,splice_donor_variant,,ENST00000542786,;LDB3,splice_donor_variant,,ENST00000310944,NM_001080115.1;LDB3,splice_donor_variant,,ENST00000372066,NM_001080116.1;LDB3,intron_variant,,ENST00000352360,;							HIGH	896/2184		LDB3_HUMAN			Transcript			.	ENSP00000355296		CCDS7377.1			1	
MUC19	0	LGGM	GRCh37	12	40925009	40925009	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	3	.	.	ENST00000454784.4:c.*5783-11355A>T		*1928*	ENST00000454784				0	1	1	UPI0003B927DE	0		ENST00000454784		ENSG00000205592	14362		29			HGNC	-		MUC19		SNV							ENST00000424466	protein_coding							T		-/19628				C9JCE7_HUMAN			YES	MUC19,splice_acceptor_variant,,ENST00000424466,;MUC19,intron_variant,,ENST00000454784,;MUC19,non_coding_transcript_exon_variant,,ENST00000474954,;MUC19,upstream_gene_variant,,ENST00000423284,;							MODIFIER	-/10893					Transcript			.	ENSP00000476404					1	
VAV2	0	LGGM	GRCh37	9	136726555	136726555	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	3	3	.	.	ENST00000371850.3:c.322-1G>T		p.X108_splice	ENST00000371850	NM_001134398.1			0	1	1	UPI000013E06E	0		ENST00000371850		ENSG00000160293	12658		6			HGNC	-		VAV2		SNV							ENST00000371851	protein_coding							A		-/4837							YES	VAV2,splice_acceptor_variant,,ENST00000371851,;VAV2,splice_acceptor_variant,,ENST00000371850,NM_001134398.1;VAV2,splice_acceptor_variant,,ENST00000406606,NM_003371.3;VAV2,splice_acceptor_variant,,ENST00000486113,;							HIGH	322/2637		VAV2_HUMAN			Transcript			.	ENSP00000360916		CCDS48053.1			1	
APOBEC3H	0	LGGM	GRCh37	22	39497511	39497511	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	3	.	.	ENST00000401756.1:c.418+2T>A		p.X140_splice	ENST00000401756	NM_001166003.1			0	1	1	UPI00002077A2	0		ENST00000401756		ENSG00000100298	24100		14			HGNC	-		APOBEC3H		SNV							ENST00000421988	protein_coding							A		-/1023							YES	APOBEC3H,splice_donor_variant,,ENST00000442487,NM_181773.3;APOBEC3H,splice_donor_variant,,ENST00000348946,NM_001166002.1;APOBEC3H,splice_donor_variant,,ENST00000401756,NM_001166003.1;APOBEC3H,splice_donor_variant,,ENST00000421988,NM_001166004.1;APOBEC3H,downstream_gene_variant,,ENST00000474235,;							HIGH	418/603		ABC3H_HUMAN			Transcript			.	ENSP00000385741		CCDS54530.1			1	
FNIP2	0	LGGM	GRCh37	4	159750271	159750271	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000264433.6:c.275G>A	p.Cys92Tyr	p.C92Y	ENST00000264433	NM_020840.1	92	tGc/tAc	0	1	1	UPI00001C1E0A	0	NA	ENST00000264433		ENSG00000052795	29280		13	2.48		HGNC	p.C115Y		FNIP2		SNV							ENST00000379346	protein_coding	getma.org/?cm=var&var=hg19,4,159750271,G,A&fts=all		hmmpanther:PTHR21634,hmmpanther:PTHR21634:SF11,Pfam_domain:PF14636		C/Y		A	medium	350/6925		getma.org/?cm=msa&ty=f&p=FNIP2_HUMAN&rb=1&re=200&var=C92Y	deleterious(0.05)				YES	FNIP2,missense_variant,p.Cys92Tyr,ENST00000264433,NM_020840.1;FNIP2,missense_variant,p.Cys115Tyr,ENST00000379346,;FNIP2,missense_variant,p.Cys115Tyr,ENST00000512986,;FNIP2,upstream_gene_variant,,ENST00000504715,;FNIP2,non_coding_transcript_exon_variant,,ENST00000505445,;FNIP2,non_coding_transcript_exon_variant,,ENST00000504704,;							MODERATE	275/3345	C92Y	FNIP2_HUMAN			Transcript		possibly_damaging(0.845)	.	ENSP00000264433		CCDS47155.1			1	
RP11-723O4.6	0	LGGM	GRCh37	3	128663963	128663963	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	3	.	.	ENST00000508239.1:c.847G>A	p.Gly283Ser	p.G283S	ENST00000508239		283	Ggc/Agc	0	1	1	UPI00001C0B67	0	NA	ENST00000508239		ENSG00000187695			27	2.39		Clone_based_vega_gene	p.G283S		RP11-723O4.6		SNV							ENST00000344062	protein_coding	getma.org/?cm=var&var=hg19,3,128663963,C,T&fts=all				G/S		T	medium	994/2291		getma.org/?cm=msa&ty=f&p=YC006_HUMAN&rb=1&re=559&var=G283S	deleterious(0)	D6RBZ9_HUMAN			YES	RP11-723O4.6,missense_variant,p.Gly283Ser,ENST00000508239,;KIAA1257,intron_variant,,ENST00000511438,;RP11-723O4.6,downstream_gene_variant,,ENST00000511204,;							MODERATE	847/1719	G283S	YC006_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000424951					1	
GLIPR1	0	LGGM	GRCh37	12	75889366	75889366	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	3	.	.	ENST00000266659.3:c.543C>T	p.Tyr181=	p.Y181=	ENST00000266659	NM_006851.2	181	taC/taT	0	1	1	UPI000012B60F	0		ENST00000266659		ENSG00000139278	17001		20			HGNC	p.T64I		GLIPR1		SNV							ENST00000550491	protein_coding			hmmpanther:PTHR10334:SF163,hmmpanther:PTHR10334,PROSITE_patterns:PS01010,Gene3D:3.40.33.10,SMART_domains:SM00198,Superfamily_domains:SSF55797,Prints_domain:PR00837		Y		T		744/5877							YES	GLIPR1,missense_variant,p.Thr205Ile,ENST00000456650,;GLIPR1,missense_variant,p.Thr64Ile,ENST00000550491,;GLIPR1,synonymous_variant,p.=,ENST00000266659,NM_006851.2;KRR1,downstream_gene_variant,,ENST00000229214,NM_007043.6;KRR1,downstream_gene_variant,,ENST00000438169,;GLIPR1,missense_variant,p.Pro144Ser,ENST00000536703,;KRR1,downstream_gene_variant,,ENST00000551070,;							LOW	543/801		GLIP1_HUMAN			Transcript			.	ENSP00000266659		CCDS9011.1			1	
CHRNA7	0	LGGM	GRCh37	15	32449975	32449975	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	3	.	.	ENST00000454250.3:c.684G>T	p.Val228=	p.V228=	ENST00000454250	NM_001190455.2	228	gtG/gtT	0	1		UPI000003581A	0		ENST00000306901		ENSG00000175344	1960		44			HGNC	p.V228V		CHRNA7		SNV			1				ENST00000454250	protein_coding			hmmpanther:PTHR18945:SF480,hmmpanther:PTHR18945,Gene3D:2.70.170.10,Pfam_domain:PF02931,TIGRFAM_domain:TIGR00860,Superfamily_domains:0038932		V		T		694/5669				Q693P7_HUMAN				CHRNA7,splice_region_variant,p.=,ENST00000306901,NM_000746.5;CHRNA7,splice_region_variant,p.=,ENST00000454250,NM_001190455.2;CHRNA7,splice_region_variant,p.=,ENST00000455693,;CHRNA7,splice_region_variant,,ENST00000437966,;							LOW	597/1509		ACHA7_HUMAN			Transcript			.	ENSP00000303727		CCDS10027.1			1	
VPS13D	0	LGGM	GRCh37	1	12428604	12428604	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	3	.	.	ENST00000358136.3:c.10530A>T	p.Thr3510=	p.T3510=	ENST00000358136	NM_015378.2	3510	acA/acT	0	1	1	UPI0000451CA9	0		ENST00000358136		ENSG00000048707	23595		47			HGNC	p.T3485T		VPS13D		SNV							ENST00000356315	protein_coding			hmmpanther:PTHR16166:SF93,hmmpanther:PTHR16166,Pfam_domain:PF06650		T		T		10660/16318				M0QXS2_HUMAN,J3KP14_HUMAN			YES	VPS13D,synonymous_variant,p.=,ENST00000358136,NM_015378.2;VPS13D,synonymous_variant,p.=,ENST00000356315,NM_018156.2;VPS13D,synonymous_variant,p.=,ENST00000011700,;VPS13D,non_coding_transcript_exon_variant,,ENST00000496628,;VPS13D,non_coding_transcript_exon_variant,,ENST00000460333,;							LOW	10530/13167					Transcript			.	ENSP00000350854		CCDS30588.1			1	
GMIP	0	LGGM	GRCh37	19	19746349	19746349	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	3	.	.	ENST00000203556.4:c.1435G>T	p.Gly479Cys	p.G479C	ENST00000203556	NM_016573.2	479	Ggc/Tgc	0	1	1	UPI0000203862	0	NA	ENST00000203556		ENSG00000089639	24852		38	1.355		HGNC	p.G453C		GMIP		SNV							ENST00000587238	protein_coding	getma.org/?cm=var&var=hg19,19,19746349,C,A&fts=all		hmmpanther:PTHR15228,hmmpanther:PTHR15228:SF16		G/C		A	low	1573/3538		getma.org/?cm=msa&ty=f&p=GMIP_HUMAN&rb=3&re=498&var=G479C	deleterious(0.04)	K7EQR5_HUMAN			YES	GMIP,missense_variant,p.Gly479Cys,ENST00000203556,NM_016573.2;GMIP,missense_variant,p.Gly450Cys,ENST00000445806,;GMIP,missense_variant,p.Gly453Cys,ENST00000587238,;GMIP,missense_variant,p.Gly223Cys,ENST00000593186,;GMIP,downstream_gene_variant,,ENST00000587205,;GMIP,non_coding_transcript_exon_variant,,ENST00000586269,;GMIP,non_coding_transcript_exon_variant,,ENST00000587713,;GMIP,downstream_gene_variant,,ENST00000588171,;GMIP,downstream_gene_variant,,ENST00000591047,;							MODERATE	1435/2913	G479C	GMIP_HUMAN			Transcript		benign(0.04)	.	ENSP00000203556		CCDS12408.1			1	
TCF23	0	LGGM	GRCh37	2	27373102	27373102	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	3	.	.	ENST00000296096.5:c.334C>A	p.Leu112Ile	p.L112I	ENST00000296096	NM_175769.2	112	Ctc/Atc	0	1	1	UPI00001AEC06	0	NA	ENST00000296096		ENSG00000163792	18602		50	2.14		HGNC	p.L112I		TCF23		SNV							ENST00000296096	protein_coding	getma.org/?cm=var&var=hg19,2,27373102,C,A&fts=all		PROSITE_profiles:PS50888,hmmpanther:PTHR23349,hmmpanther:PTHR23349:SF43,Gene3D:4.10.280.10,Pfam_domain:PF00010,SMART_domains:SM00353,Superfamily_domains:SSF47459		L/I		A	medium	464/1418		getma.org/?cm=msa&ty=f&p=TCF23_HUMAN&rb=79&re=129&var=L112I	deleterious(0.03)				YES	TCF23,missense_variant,p.Leu112Ile,ENST00000296096,NM_175769.2;TCF23,downstream_gene_variant,,ENST00000407815,;							MODERATE	334/645	L112I	TCF23_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000296096		CCDS33163.1			1	
ACVR1B	0	LGGM	GRCh37	12	52369121	52369121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	3	.	.	ENST00000541224.1:c.164C>T	p.Ser55Phe	p.S55F	ENST00000541224		55	tCc/tTc	0	1		UPI000000D98F	0	getma.org/pdb.php?prot=ACV1B_HUMAN&from=32&to=109&var=S55F	ENST00000257963		ENSG00000135503	172		23	2.705		HGNC	p.S55F		ACVR1B		SNV							ENST00000541224	protein_coding	getma.org/?cm=var&var=hg19,12,52369121,C,T&fts=all		Superfamily_domains:SSF57302,Gene3D:2.10.60.10,Pfam_domain:PF01064,hmmpanther:PTHR23255,hmmpanther:PTHR23255:SF22		S/F		T	medium	241/4563		getma.org/?cm=msa&ty=f&p=ACV1B_HUMAN&rb=32&re=109&var=S55F	tolerated(0.1)	F5H5Q2_HUMAN				ACVR1B,missense_variant,p.Ser55Phe,ENST00000257963,NM_020328.3,NM_004302.4;ACVR1B,missense_variant,p.Ser3Phe,ENST00000542485,NM_020327.3;ACVR1B,missense_variant,p.Ser55Phe,ENST00000541224,;ACVR1B,missense_variant,p.Ser55Phe,ENST00000426655,;ACVR1B,missense_variant,p.Ser55Phe,ENST00000415850,;ACVR1B,missense_variant,p.Ser3Phe,ENST00000536420,;							MODERATE	164/1518	S55F	ACV1B_HUMAN			Transcript		possibly_damaging(0.873)	.	ENSP00000257963		CCDS8816.1			1	
KLHL11	0	LGGM	GRCh37	17	40011127	40011127	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	3	.	.	ENST00000319121.3:c.992T>C	p.Leu331Pro	p.L331P	ENST00000319121	NM_018143.1	331	cTg/cCg	0	1	1	UPI00000719F8	0	getma.org/pdb.php?prot=KLH11_HUMAN&from=308&to=395&var=L331P	ENST00000319121		ENSG00000178502	19008		27	0.695		HGNC	p.L331P		KLHL11		SNV							ENST00000319121	protein_coding	getma.org/?cm=var&var=hg19,17,40011127,A,G&fts=all		hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF9		L/P		G	neutral	1053/2383		getma.org/?cm=msa&ty=f&p=KLH11_HUMAN&rb=308&re=395&var=L331P	deleterious_low_confidence(0.01)				YES	KLHL11,missense_variant,p.Leu331Pro,ENST00000319121,NM_018143.1;RP11-156E6.1,upstream_gene_variant,,ENST00000560400,;							MODERATE	992/2127	L331P	KLH11_HUMAN			Transcript		possibly_damaging(0.506)	.	ENSP00000314608		CCDS11411.1			1	
PCSK1	0	LGGM	GRCh37	5	95735661	95735661	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	3	.	.	ENST00000311106.3:c.1426C>T	p.Pro476Ser	p.P476S	ENST00000311106	NM_000439.4	476	Ccc/Tcc	0	1	1	UPI000013F0F5	0	NA	ENST00000311106		ENSG00000175426	8743		23	2.25		HGNC	p.P476S		PCSK1		SNV			1				ENST00000311106	protein_coding	getma.org/?cm=var&var=hg19,5,95735661,G,A&fts=all		hmmpanther:PTHR10795:SF343,hmmpanther:PTHR10795,Gene3D:2.60.120.260,Superfamily_domains:SSF49785		P/S		A	medium	1664/5086		getma.org/?cm=msa&ty=f&p=NEC1_HUMAN&rb=452&re=503&var=P476S	tolerated(0.12)	D6RJA3_HUMAN			YES	PCSK1,missense_variant,p.Pro476Ser,ENST00000311106,NM_000439.4,NM_001177876.1;PCSK1,missense_variant,p.Pro429Ser,ENST00000508626,NM_001177875.1;CTD-2337A12.1,intron_variant,,ENST00000502645,;PCSK1,non_coding_transcript_exon_variant,,ENST00000513085,;							MODERATE	1426/2262	P476S	NEC1_HUMAN			Transcript		benign(0.23)	.	ENSP00000308024		CCDS4081.1			1	
TSGA13	0	LGGM	GRCh37	7	130357664	130357664	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	3	.	.	ENST00000456951.1:c.440C>A	p.Pro147His	p.P147H	ENST00000456951		147	cCt/cAt	0	1		UPI0000073CFB	0	NA	ENST00000356588		ENSG00000213265	12369		44	0.695		HGNC	p.P147H		TSGA13		SNV							ENST00000356588	protein_coding	getma.org/?cm=var&var=hg19,7,130357664,G,T&fts=all		Pfam_domain:PF14994		P/H		T	neutral	897/1372		getma.org/?cm=msa&ty=f&p=TSG13_HUMAN&rb=9&re=219&var=P147H	deleterious(0)	C9JVS7_HUMAN,C9JIG7_HUMAN				TSGA13,missense_variant,p.Pro147His,ENST00000456951,;TSGA13,missense_variant,p.Pro147His,ENST00000356588,NM_052933.2;COPG2,upstream_gene_variant,,ENST00000445977,;COPG2,upstream_gene_variant,,ENST00000330992,;							MODERATE	440/828	P147H	TSG13_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000348996		CCDS5824.1			1	
RTN1	0	LGGM	GRCh37	14	60212475	60212475	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	3	.	.	ENST00000267484.5:c.966G>T	p.Glu322Asp	p.E322D	ENST00000267484	NM_021136.2	322	gaG/gaT	0	1	1	UPI00001352DA	0	NA	ENST00000267484		ENSG00000139970	10467		49	2.39		HGNC	p.E322D		RTN1		SNV							ENST00000267484	protein_coding	getma.org/?cm=var&var=hg19,14,60212475,C,A&fts=all		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF26		E/D		A	medium	1302/3435		getma.org/?cm=msa&ty=f&p=RTN1_HUMAN&rb=72&re=580&var=E322D	deleterious(0)	Q2NKQ5_HUMAN,Q2L7A7_HUMAN			YES	RTN1,missense_variant,p.Glu322Asp,ENST00000267484,NM_021136.2;							MODERATE	966/2331	E322D	RTN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000267484		CCDS9740.1			1	
MORC2	0	LGGM	GRCh37	22	31335964	31335964	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	3	.	.	ENST00000215862.4:c.783C>T	p.Asp261=	p.D261=	ENST00000215862	NM_014941.1	261	gaC/gaT	0	1		UPI000041AB7E	0		ENST00000397641		ENSG00000133422	23573		28			HGNC	p.D323D		MORC2		SNV							ENST00000397641	protein_coding			hmmpanther:PTHR23337:SF7,hmmpanther:PTHR23337		D		A		1378/5181								MORC2,synonymous_variant,p.=,ENST00000397641,;MORC2,synonymous_variant,p.=,ENST00000215862,NM_014941.1;MORC2,intron_variant,,ENST00000469915,;MORC2,downstream_gene_variant,,ENST00000476152,;							LOW	969/3099		MORC2_HUMAN			Transcript			.	ENSP00000380763					1	
PAGE2	0	LGGM	GRCh37	X	55117830	55117830	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	3	.	.	ENST00000374968.4:c.259G>A	p.Gly87Ser	p.G87S	ENST00000374968	NM_207339.2	87	Ggt/Agt	0	1	1	UPI0000160CEC	0	NA	ENST00000374968		ENSG00000234068	31804		35	1.975		HGNC	p.G70S		PAGE2		SNV							ENST00000374965	protein_coding	getma.org/?cm=var&var=hg19,X,55117830,G,A&fts=all		hmmpanther:PTHR14047,hmmpanther:PTHR14047:SF9,Pfam_domain:PF05831		G/S		A	medium	363/551		getma.org/?cm=msa&ty=f&p=GGEE2_HUMAN&rb=5&re=111&var=G87S	deleterious(0.01)				YES	PAGE2,missense_variant,p.Gly87Ser,ENST00000374968,NM_207339.2;PAGE2,missense_variant,p.Gly70Ser,ENST00000374965,;PAGE2,downstream_gene_variant,,ENST00000449097,;							MODERATE	259/336	G87S	PAGE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364107		CCDS14367.1			1	
BRINP2	0	LGGM	GRCh37	1	177226351	177226351	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	3	.	.	ENST00000361539.4:c.500T>C	p.Leu167Pro	p.L167P	ENST00000361539	NM_021165.2	167	cTg/cCg	0	1	1	UPI000006DF55	0	NA	ENST00000361539		ENSG00000198797	13746		38	2.565		HGNC	p.L167P	rs761816187	BRINP2		SNV				9.61E-05			ENST00000361539	protein_coding	getma.org/?cm=var&var=hg19,1,177226351,T,C&fts=all		Pfam_domain:PF01823,hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5,SMART_domains:SM00457		L/P		C	medium	812/3558		getma.org/?cm=msa&ty=f&p=FAM5B_HUMAN&rb=63&re=193&var=L167P	deleterious(0)				YES	BRINP2,missense_variant,p.Leu167Pro,ENST00000361539,NM_021165.2;BRINP2,non_coding_transcript_exon_variant,,ENST00000478325,;BRINP2,non_coding_transcript_exon_variant,,ENST00000460161,;							MODERATE	500/2352	L167P	BRNP2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354481	8.24E-06	CCDS1320.1			1	
ERAP1	0	LGGM	GRCh37	5	96127892	96127892	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	3	.	.	ENST00000296754.3:c.1192G>T	p.Asp398Tyr	p.D398Y	ENST00000296754	NM_016442.3	398	Gat/Tat	0	1		UPI0000041388	0	getma.org/pdb.php?prot=ERAP1_HUMAN&from=53&to=441&var=D398Y	ENST00000443439		ENSG00000164307	18173		48	2.85		HGNC	p.D398Y		ERAP1		SNV							ENST00000443439	protein_coding	getma.org/?cm=var&var=hg19,5,96127892,C,A&fts=all		hmmpanther:PTHR11533:SF156,hmmpanther:PTHR11533,Gene3D:1.10.390.10,Pfam_domain:PF01433,Superfamily_domains:SSF55486		D/Y		A	medium	1259/4805		getma.org/?cm=msa&ty=f&p=ERAP1_HUMAN&rb=53&re=441&var=D398Y	deleterious(0)	D6RAL9_HUMAN				ERAP1,missense_variant,p.Asp398Tyr,ENST00000296754,NM_016442.3;ERAP1,missense_variant,p.Asp398Tyr,ENST00000443439,NM_001040458.1,NM_001198541.1;ERAP1,non_coding_transcript_exon_variant,,ENST00000503311,;ERAP1,upstream_gene_variant,,ENST00000507859,;							MODERATE	1192/2826	D398Y	ERAP1_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000406304		CCDS47250.1			1	
IRGQ	0	LGGM	GRCh37	19	44097427	44097427	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	3	.	.	ENST00000422989.1:c.623C>T	p.Ala208Val	p.A208V	ENST00000422989	NM_001007561.2	208	gCt/gTt	0	1	1	UPI000003FDB6	0	getma.org/pdb.php?prot=IRGQ_HUMAN&from=181&to=332&var=A208V	ENST00000422989		ENSG00000167378	24868		20	1.59		HGNC	p.A208V		IRGQ		SNV							ENST00000422989	protein_coding	getma.org/?cm=var&var=hg19,19,44097427,G,A&fts=all		hmmpanther:PTHR19364,hmmpanther:PTHR19364:SF2		A/V		A	low	779/9685		getma.org/?cm=msa&ty=f&p=IRGQ_HUMAN&rb=181&re=332&var=A208V	tolerated(0.06)	M0QZP8_HUMAN			YES	IRGQ,missense_variant,p.Ala208Val,ENST00000422989,NM_001007561.2;IRGQ,missense_variant,p.Ala208Val,ENST00000602269,;SRRM5,upstream_gene_variant,,ENST00000607544,;SRRM5,upstream_gene_variant,,ENST00000526798,;ZNF576,upstream_gene_variant,,ENST00000336564,NM_001145347.1;ZNF576,upstream_gene_variant,,ENST00000525771,;ZNF576,upstream_gene_variant,,ENST00000391965,NM_024327.2;ZNF576,upstream_gene_variant,,ENST00000533118,;ZNF576,upstream_gene_variant,,ENST00000528387,;ZNF576,upstream_gene_variant,,ENST00000529930,;IRGQ,downstream_gene_variant,,ENST00000598324,;L34079.2,upstream_gene_variant,,ENST00000594374,;IRGQ,upstream_gene_variant,,ENST00000601520,;IRGQ,upstream_gene_variant,,ENST00000596409,;ZNF576,upstream_gene_variant,,ENST00000595041,;							MODERATE	623/1872	A208V	IRGQ_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000387535		CCDS33040.1			1	
TRAPPC10	0	LGGM	GRCh37	21	45506828	45506828	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	3	.	.	ENST00000291574.4:c.2526C>T	p.Tyr842=	p.Y842=	ENST00000291574	NM_003274.4	842	taC/taT	0	1	1	UPI0000129E26	0		ENST00000291574		ENSG00000160218	11868		28			HGNC	p.Y842Y		TRAPPC10		SNV							ENST00000291574	protein_coding			hmmpanther:PTHR13251		Y		T		2701/6976				Q76NH5_HUMAN			YES	TRAPPC10,synonymous_variant,p.=,ENST00000291574,NM_003274.4;TRAPPC10,upstream_gene_variant,,ENST00000483973,;TRAPPC10,upstream_gene_variant,,ENST00000465905,;TRAPPC10,upstream_gene_variant,,ENST00000486746,;TRAPPC10,3_prime_UTR_variant,,ENST00000422875,;TRAPPC10,upstream_gene_variant,,ENST00000459741,;TRAPPC10,upstream_gene_variant,,ENST00000469521,;TRAPPC10,downstream_gene_variant,,ENST00000461889,;TRAPPC10,upstream_gene_variant,,ENST00000485621,;TRAPPC10,downstream_gene_variant,,ENST00000481460,;							LOW	2526/3780		TPC10_HUMAN			Transcript			.	ENSP00000291574		CCDS13704.1			1	
CAPS	0	LGGM	GRCh37	19	5914611	5914611	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	3	.	.	ENST00000222125.5:c.121C>A	p.Leu41Met	p.L41M	ENST00000222125	NM_004058.3	41	Ctg/Atg	0	1	1	UPI00001270F7	0	getma.org/pdb.php?prot=CAYP1_HUMAN&from=21&to=56&var=L41M	ENST00000222125		ENSG00000105519	1487		19	2.805		HGNC	p.L41M		CAPS		SNV							ENST00000452990	protein_coding	getma.org/?cm=var&var=hg19,19,5914611,C,A&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR10891,hmmpanther:PTHR10891:SF222,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473		L/M		A	medium	217/1221		getma.org/?cm=msa&ty=f&p=CAYP1_HUMAN&rb=21&re=56&var=L41M	deleterious(0)	Q96ET4_HUMAN,K7ES72_HUMAN			YES	CAPS,missense_variant,p.Leu127Met,ENST00000588776,;CAPS,missense_variant,p.Leu41Met,ENST00000222125,NM_004058.3;CAPS,missense_variant,p.Leu41Met,ENST00000452990,NM_080590.2;CAPS,missense_variant,p.Leu41Met,ENST00000588865,;RANBP3,downstream_gene_variant,,ENST00000340578,NM_007322.2,NM_003624.2,NM_007320.2;RANBP3,downstream_gene_variant,,ENST00000439268,;VMAC,downstream_gene_variant,,ENST00000339485,NM_001017921.3;RANBP3,downstream_gene_variant,,ENST00000591092,;RANBP3,downstream_gene_variant,,ENST00000034275,;RANBP3,downstream_gene_variant,,ENST00000541471,;RANBP3,downstream_gene_variant,,ENST00000587479,;AC104532.4,upstream_gene_variant,,ENST00000591109,;AC104532.2,3_prime_UTR_variant,,ENST00000588891,;CAPS,non_coding_transcript_exon_variant,,ENST00000585541,;CAPS,non_coding_transcript_exon_variant,,ENST00000590428,;RANBP3,downstream_gene_variant,,ENST00000586344,;RANBP3,downstream_gene_variant,,ENST00000592771,;RANBP3,downstream_gene_variant,,ENST00000592197,;							MODERATE	121/570	L41M	CAYP1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000222125		CCDS12156.1			1	
MBD3	0	LGGM	GRCh37	19	1578482	1578482	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	3	.	.	ENST00000156825.1:c.733G>A	p.Ala245Thr	p.A245T	ENST00000156825		245	Gcc/Acc	0	1		UPI000003166B	0	NA	ENST00000434436		ENSG00000071655	6918		19	0.895		HGNC	p.A189T		MBD3		SNV							ENST00000590550	protein_coding	getma.org/?cm=var&var=hg19,19,1578482,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12396,hmmpanther:PTHR12396:SF5		A/T		T	low	863/2498		getma.org/?cm=msa&ty=f&p=MBD3_HUMAN&rb=244&re=291&var=A245T	deleterious(0)	K7EIE8_HUMAN,B3KMA8_HUMAN				MBD3,missense_variant,p.Ala189Thr,ENST00000590550,;MBD3,missense_variant,p.Ala245Thr,ENST00000156825,;MBD3,missense_variant,p.Ala213Thr,ENST00000592012,;MBD3,missense_variant,p.Ala245Thr,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,non_coding_transcript_exon_variant,,ENST00000589901,;MBD3,downstream_gene_variant,,ENST00000592361,;MBD3,downstream_gene_variant,,ENST00000589064,;AC005943.4,downstream_gene_variant,,ENST00000592406,;							MODERATE	733/876	A245T	MBD3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000412302		CCDS12072.1			1	
FRS3	0	LGGM	GRCh37	6	41738668	41738668	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000373018.3:c.1168C>T	p.Leu390=	p.L390=	ENST00000373018	NM_006653.4	390	Ctg/Ttg	0	1		UPI0000073ACA	0		ENST00000259748		ENSG00000137218	16970		13			HGNC	p.L390L		FRS3		SNV							ENST00000259748	protein_coding			hmmpanther:PTHR21258,hmmpanther:PTHR21258:SF39		L		A		1340/2094				A6PVU0_HUMAN				FRS3,synonymous_variant,p.=,ENST00000373018,NM_006653.4;FRS3,synonymous_variant,p.=,ENST00000259748,;FRS3,downstream_gene_variant,,ENST00000426290,;FRS3,downstream_gene_variant,,ENST00000422888,;							LOW	1168/1479		FRS3_HUMAN			Transcript			.	ENSP00000259748		CCDS4860.1			1	
CAMK4	0	LGGM	GRCh37	5	110784896	110784896	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	3	.	.	ENST00000282356.4:c.620A>G	p.Tyr207Cys	p.Y207C	ENST00000282356	NM_001744.4	207	tAc/tGc	0	1	1	UPI000000128E	0	getma.org/pdb.php?prot=KCC4_HUMAN&from=46&to=300&var=Y207C	ENST00000282356		ENSG00000152495	1464		25	3.8		HGNC	p.Y207C		CAMK4		SNV							ENST00000512453	protein_coding	getma.org/?cm=var&var=hg19,5,110784896,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24349,hmmpanther:PTHR24349:SF77,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/C		G	high	1018/12240		getma.org/?cm=msa&ty=f&p=KCC4_HUMAN&rb=46&re=300&var=Y207C	deleterious(0)	D6RE65_HUMAN			YES	CAMK4,missense_variant,p.Tyr207Cys,ENST00000282356,NM_001744.4;CAMK4,missense_variant,p.Tyr207Cys,ENST00000512453,;CAMK4,non_coding_transcript_exon_variant,,ENST00000505763,;CAMK4,non_coding_transcript_exon_variant,,ENST00000502916,;CAMK4,3_prime_UTR_variant,,ENST00000515231,;CAMK4,3_prime_UTR_variant,,ENST00000514007,;CAMK4,downstream_gene_variant,,ENST00000504544,;							MODERATE	620/1422	Y207C	KCC4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000282356		CCDS4103.1			1	
HMCN1	0	LGGM	GRCh37	1	186114609	186114609	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	3	.	.	ENST00000271588.4:c.14341T>C	p.Tyr4781His	p.Y4781H	ENST00000271588	NM_031935.2	4781	Tac/Cac	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=4761&to=4811&var=Y4781H	ENST00000271588		ENSG00000143341	19194		18	0.54		HGNC	p.Y4781H		HMCN1		SNV			1				ENST00000271588	protein_coding	getma.org/?cm=var&var=hg19,1,186114609,T,C&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,SMART_domains:SM00209,Superfamily_domains:SSF82895		Y/H		C	neutral	14570/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=4761&re=4811&var=Y4781H					YES	HMCN1,missense_variant,p.Tyr4781His,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Tyr4781His,ENST00000367492,;							MODERATE	14341/16908	Y4781H	HMCN1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000271588		CCDS30956.1			1	
SPATS1	0	LGGM	GRCh37	6	44344150	44344150	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	3	.	.	ENST00000288390.2:c.814G>C	p.Val272Leu	p.V272L	ENST00000288390		272	Gtt/Ctt	0	1	1	UPI0000072310	0	NA	ENST00000288390		ENSG00000249481	22957		44	1.79		HGNC	p.V272L		SPATS1		SNV							ENST00000288390	protein_coding	getma.org/?cm=var&var=hg19,6,44344150,G,C&fts=all		Pfam_domain:PF15160		V/L		C	low	1161/1354		getma.org/?cm=msa&ty=f&p=SPAS1_HUMAN&rb=4&re=298&var=V272L	deleterious(0)	H0Y9A9_HUMAN			YES	SPATS1,missense_variant,p.Val272Leu,ENST00000288390,;SPATS1,missense_variant,p.Val272Leu,ENST00000323108,NM_145026.3;RP11-444E17.6,3_prime_UTR_variant,,ENST00000505802,;SPATS1,3_prime_UTR_variant,,ENST00000506468,;							MODERATE	814/903	V272L	SPAS1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000424400		CCDS4911.1			1	
ZNF33A	0	LGGM	GRCh37	10	38305844	38305844	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	3	.	.	ENST00000374618.3:c.55G>T	p.Val19Leu	p.V19L	ENST00000374618	NM_001278178.1	19	Gtg/Ttg	0	1		UPI000000D888	0	getma.org/pdb.php?prot=ZN33A_HUMAN&from=12&to=52&var=V19L	ENST00000458705		ENSG00000189180	13096		48	3.155		HGNC	p.V19L		ZNF33A		SNV							ENST00000374618	protein_coding	getma.org/?cm=var&var=hg19,10,38305844,G,T&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF204,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		V/L		T	medium	213/6084		getma.org/?cm=msa&ty=f&p=ZN33A_HUMAN&rb=12&re=52&var=V19L	deleterious(0.02)					ZNF33A,missense_variant,p.Val19Leu,ENST00000374618,NM_001278178.1,NM_001278177.1,NM_001278174.1,NM_001278173.1,NM_001278176.1,NM_001278175.1,NM_001278179.1,NM_001278171.1,NM_006954.1,NM_006974.2;ZNF33A,missense_variant,p.Val19Leu,ENST00000458705,;ZNF33A,missense_variant,p.Val26Leu,ENST00000432900,NM_001278170.1;ZNF33A,missense_variant,p.Val19Leu,ENST00000307441,;ZNF33A,missense_variant,p.Val19Leu,ENST00000469037,;ZNF33A,non_coding_transcript_exon_variant,,ENST00000476504,;ZNF33A,non_coding_transcript_exon_variant,,ENST00000478556,;							MODERATE	55/2433	V19L	ZN33A_HUMAN			Transcript		possibly_damaging(0.477)	.	ENSP00000387713		CCDS31182.1			1	
ZMYND15	0	LGGM	GRCh37	17	4647562	4647562	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	3	.	.	ENST00000573751.2:c.1573A>G	p.Met525Val	p.M525V	ENST00000573751		525	Atg/Gtg	0	1		UPI000153D80D	0	NA	ENST00000433935		ENSG00000141497	20997		24	1.1		HGNC	p.M486V		ZMYND15		SNV			1				ENST00000592813	protein_coding	getma.org/?cm=var&var=hg19,17,4647562,A,G&fts=all		hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF130		M/V		G	low	1630/2411		getma.org/?cm=msa&ty=f&p=ZMY15_HUMAN&rb=383&re=591&var=M525V	tolerated(0.53)					ZMYND15,missense_variant,p.Met525Val,ENST00000433935,NM_001136046.2,NM_001267822.1;ZMYND15,missense_variant,p.Met525Val,ENST00000573751,;ZMYND15,missense_variant,p.Met486Val,ENST00000592813,NM_032265.2;ZMYND15,missense_variant,p.Met486Val,ENST00000269289,;CXCL16,upstream_gene_variant,,ENST00000293778,NM_022059.2;CXCL16,upstream_gene_variant,,ENST00000574412,NM_001100812.1;ZMYND15,non_coding_transcript_exon_variant,,ENST00000574829,;ZMYND15,non_coding_transcript_exon_variant,,ENST00000571782,;							MODERATE	1573/2229	M525V	ZMY15_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000391742		CCDS45584.1			1	
PIGR	0	LGGM	GRCh37	1	207108960	207108960	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	3	.	.	ENST00000356495.4:c.1249G>A	p.Glu417Lys	p.E417K	ENST00000356495	NM_002644.3	417	Gag/Aag	0	1	1	UPI000007407E	0	getma.org/pdb.php?prot=PIGR_HUMAN&from=349&to=456&var=E417K	ENST00000356495		ENSG00000162896	8968		25	1.78		HGNC	p.E417K		PIGR		SNV							ENST00000356495	protein_coding	getma.org/?cm=var&var=hg19,1,207108960,C,T&fts=all		hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00406,Superfamily_domains:SSF48726		E/K		T	low	1433/4279		getma.org/?cm=msa&ty=f&p=PIGR_HUMAN&rb=349&re=456&var=E417K	tolerated(0.15)				YES	PIGR,missense_variant,p.Glu417Lys,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;							MODERATE	1249/2295	E417K	PIGR_HUMAN			Transcript		benign(0.02)	.	ENSP00000348888		CCDS1474.1			1	
LPIN2	0	LGGM	GRCh37	18	2934423	2934423	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	3	.	.	ENST00000261596.4:c.1194G>T	p.Gln398His	p.Q398H	ENST00000261596	NM_014646.2	398	caG/caT	0	1	1	UPI000012E865	0	NA	ENST00000261596		ENSG00000101577	14450		30	2.51		HGNC	p.Q398H		LPIN2		SNV			1				ENST00000261596	protein_coding	getma.org/?cm=var&var=hg19,18,2934423,C,A&fts=all		hmmpanther:PTHR12181,hmmpanther:PTHR12181:SF11		Q/H		A	medium	1433/6229		getma.org/?cm=msa&ty=f&p=LPIN2_HUMAN&rb=133&re=628&var=Q398H	deleterious(0)	J3KTK1_HUMAN			YES	LPIN2,missense_variant,p.Gln398His,ENST00000261596,NM_014646.2;							MODERATE	1194/2691	Q398H	LPIN2_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000261596		CCDS11829.1			1	
HSPA2	0	LGGM	GRCh37	14	65008852	65008852	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	3	.	.	ENST00000247207.6:c.1285C>T	p.Gln429Ter	p.Q429*	ENST00000247207	NM_021979.3	429	Cag/Tag	0	1	1	UPI000012CC6A	0	NA	ENST00000247207		ENSG00000126803	5235		32	0		HGNC	p.Q429X		HSPA2		SNV							ENST00000247207	protein_coding	getma.org/?cm=var&var=hg19,14,65008852,C,T&fts=all		Gene3D:2.60.34.10,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF142,Low_complexity_(Seg):seg,Superfamily_domains:SSF100920		Q/*		T	NA	1667/2767		NA					YES	HSPA2,stop_gained,p.Gln429Ter,ENST00000247207,NM_021979.3;HSPA2,stop_gained,p.Gln429Ter,ENST00000394709,;RP11-973N13.4,upstream_gene_variant,,ENST00000554918,;HSPA2,downstream_gene_variant,,ENST00000554883,;							HIGH	1285/1920	Q429*	HSP72_HUMAN			Transcript			.	ENSP00000247207		CCDS9766.1			1	
ADAM22	0	LGGM	GRCh37	7	87774508	87774508	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	3	.	.	ENST00000265727.7:c.1389G>A	p.Pro463=	p.P463=	ENST00000265727		463	ccG/ccA	0	1	1	UPI00001254DC	0		ENST00000265727		ENSG00000008277	201		39			HGNC	p.P463P	rs761460394	ADAM22		SNV				0.000205			ENST00000398209	protein_coding			PROSITE_profiles:PS50214,hmmpanther:PTHR11905:SF14,hmmpanther:PTHR11905,Pfam_domain:PF00200,SMART_domains:SM00050,Superfamily_domains:SSF57552		P		A		1468/2891				Q9UKK0_HUMAN,Q86UM2_HUMAN,Q75MS7_HUMAN,F8WAD8_HUMAN,D6W5P7_HUMAN			YES	ADAM22,synonymous_variant,p.=,ENST00000398204,NM_021723.3,NM_016351.4;ADAM22,synonymous_variant,p.=,ENST00000398209,NM_021722.4;ADAM22,synonymous_variant,p.=,ENST00000315984,;ADAM22,synonymous_variant,p.=,ENST00000265727,;ADAM22,synonymous_variant,p.=,ENST00000398201,NM_004194.3,NM_021721.3;ADAM22,synonymous_variant,p.=,ENST00000398203,;							LOW	1389/2721		ADA22_HUMAN			Transcript			.	ENSP00000265727	1.66E-05	CCDS47637.1			1	
KSR1	0	LGGM	GRCh37	17	25932724	25932724	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	3	.	.	ENST00000398988.3:c.1534G>A	p.Asp512Asn	p.D512N	ENST00000398988	NM_014238.1	512	Gac/Aac	0	1	1	UPI00005B2F0C	0	getma.org/pdb.php?prot=KSR1_HUMAN&from=611&to=875&var=D647N	ENST00000398988		ENSG00000141068	6465		20	1.61		HGNC	p.D512N		KSR1		SNV							ENST00000398988	protein_coding	getma.org/?cm=var&var=hg19,17,25932724,G,A&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF413,Pfam_domain:PF07714,Gene3D:3.30.200.20,SMART_domains:SM00220,Superfamily_domains:SSF56112		D/N		A	low	1979/7234		getma.org/?cm=msa&ty=f&p=KSR1_HUMAN&rb=611&re=875&var=D647N	deleterious(0.01)	J3QSG8_HUMAN,J3QR75_HUMAN,J3QKR8_HUMAN,H7BYU0_HUMAN			YES	KSR1,missense_variant,p.Asp512Asn,ENST00000398988,NM_014238.1;KSR1,missense_variant,p.Asp649Asn,ENST00000319524,;KSR1,missense_variant,p.Asp512Asn,ENST00000268763,;KSR1,missense_variant,p.Asp627Asn,ENST00000509603,;KSR1,missense_variant,p.Asp362Asn,ENST00000398982,;KSR1,upstream_gene_variant,,ENST00000582410,;KSR1,upstream_gene_variant,,ENST00000580430,;KSR1,downstream_gene_variant,,ENST00000581975,;KSR1,downstream_gene_variant,,ENST00000579961,;KSR1,downstream_gene_variant,,ENST00000583525,;							MODERATE	1534/2289	D647N				Transcript		possibly_damaging(0.563)	.	ENSP00000381958		CCDS58532.1			1	
LGALS8	0	LGGM	GRCh37	1	236700821	236700821	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	3	.	.	ENST00000526589.1:c.70C>T	p.Pro24Ser	p.P24S	ENST00000526589		24	Cct/Tct	0	1		UPI0000169BB8	0	getma.org/pdb.php?prot=LEG8_HUMAN&from=18&to=151&var=P24S	ENST00000341872		ENSG00000116977	6569		21	0.955		HGNC	p.P24S		LGALS8		SNV							ENST00000526589	protein_coding	getma.org/?cm=var&var=hg19,1,236700821,C,T&fts=all		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		P/S		T	low	451/2437		getma.org/?cm=msa&ty=f&p=LEG8_HUMAN&rb=18&re=151&var=P24S	tolerated(0.43)	E9PPL1_HUMAN,E9PJ77_HUMAN,B1ANM0_HUMAN				LGALS8,missense_variant,p.Pro24Ser,ENST00000526589,;LGALS8,missense_variant,p.Pro24Ser,ENST00000366584,NM_201544.2;LGALS8,missense_variant,p.Pro24Ser,ENST00000450372,NM_006499.4;LGALS8,missense_variant,p.Pro24Ser,ENST00000341872,NM_201543.2;LGALS8,missense_variant,p.Pro24Ser,ENST00000323938,;LGALS8,missense_variant,p.Pro24Ser,ENST00000526634,;LGALS8,missense_variant,p.Pro24Ser,ENST00000352231,NM_201545.2;LGALS8,missense_variant,p.Pro24Ser,ENST00000527974,;LGALS8,missense_variant,p.Pro24Ser,ENST00000416919,;LGALS8,missense_variant,p.Pro24Ser,ENST00000406509,;LGALS8,missense_variant,p.Pro24Ser,ENST00000525042,;LGALS8,missense_variant,p.Pro24Ser,ENST00000454943,;LGALS8,missense_variant,p.Pro24Ser,ENST00000238181,;LGALS8,missense_variant,p.Pro24Ser,ENST00000481485,;LGALS8,missense_variant,p.Pro24Ser,ENST00000430527,;LGALS8,missense_variant,p.Pro24Ser,ENST00000529489,;RP11-385F5.5,upstream_gene_variant,,ENST00000608547,;RP11-385F5.4,downstream_gene_variant,,ENST00000433131,;LGALS8,missense_variant,p.Pro24Ser,ENST00000442397,;LGALS8,non_coding_transcript_exon_variant,,ENST00000366583,;LGALS8,non_coding_transcript_exon_variant,,ENST00000532826,;LGALS8,non_coding_transcript_exon_variant,,ENST00000528782,;LGALS8,intron_variant,,ENST00000434231,;LGALS8,upstream_gene_variant,,ENST00000528259,;LGALS8,upstream_gene_variant,,ENST00000529796,;LGALS8,upstream_gene_variant,,ENST00000526652,;							MODERATE	70/954	P24S	LEG8_HUMAN			Transcript		benign(0.006)	.	ENSP00000342139		CCDS1612.1			1	
FGFR2	0	LGGM	GRCh37	10	123279493	123279493	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	3	.	.	ENST00000358487.5:c.939G>T	p.Lys313Asn	p.K313N	ENST00000358487	NM_000141.4	313	aaG/aaT	0	1		UPI000012A72A	0	getma.org/pdb.php?prot=FGFR2_HUMAN&from=260&to=359&var=K313N	ENST00000358487		ENSG00000066468	3689		17	1.655		HGNC	p.K313N		FGFR2		SNV			1				ENST00000346997	protein_coding	getma.org/?cm=var&var=hg19,10,123279493,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF130,Gene3D:2.60.40.10,Pfam_domain:PF07679,SMART_domains:SM00409,SMART_domains:SM00408,PIRSF_domain:PIRSF000628,Superfamily_domains:SSF48726		K/N		A	low	1212/4255		getma.org/?cm=msa&ty=f&p=FGFR2_HUMAN&rb=260&re=359&var=K313N	deleterious(0)	Q9UMA9_HUMAN,Q9UEH2_HUMAN,D3DRD6_HUMAN				FGFR2,missense_variant,p.Lys313Asn,ENST00000358487,NM_000141.4;FGFR2,missense_variant,p.Lys85Asn,ENST00000478859,;FGFR2,missense_variant,p.Lys224Asn,ENST00000357555,NM_023029.2,NM_001144915.1;FGFR2,missense_variant,p.Lys198Asn,ENST00000356226,NM_001144918.1,NM_001144916.1;FGFR2,missense_variant,p.Lys313Asn,ENST00000369060,NM_001144917.1;FGFR2,missense_variant,p.Lys313Asn,ENST00000457416,NM_022970.3;FGFR2,missense_variant,p.Lys313Asn,ENST00000351936,;FGFR2,missense_variant,p.Lys198Asn,ENST00000369059,;FGFR2,missense_variant,p.Lys224Asn,ENST00000360144,NM_001144919.1;FGFR2,missense_variant,p.Lys313Asn,ENST00000369058,;FGFR2,missense_variant,p.Lys313Asn,ENST00000369056,NM_001144913.1;FGFR2,missense_variant,p.Lys224Asn,ENST00000336553,;FGFR2,missense_variant,p.Lys313Asn,ENST00000346997,;FGFR2,intron_variant,,ENST00000369061,NM_001144914.1;FGFR2,upstream_gene_variant,,ENST00000429361,;FGFR2,splice_region_variant,,ENST00000490349,;FGFR2,upstream_gene_variant,,ENST00000463870,;FGFR2,missense_variant,p.Lys198Asn,ENST00000604236,;							MODERATE	939/2466	K313N	FGFR2_HUMAN			Transcript		benign(0.077)	.	ENSP00000351276		CCDS31298.1			1	
MAMDC4	0	LGGM	GRCh37	9	139751450	139751450	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	3	.	.	ENST00000317446.2:c.1929G>A	p.Thr643=	p.T643=	ENST00000317446	NM_206920.2	643	acG/acA	0	1		UPI0000EE5638	0		ENST00000445819		ENSG00000177943	24083		19			HGNC	p.T643T	rs767135848	MAMDC4		SNV							ENST00000317446	protein_coding			PROSITE_profiles:PS50060,hmmpanther:PTHR23282:SF63,hmmpanther:PTHR23282,Pfam_domain:PF00629,SMART_domains:SM00137,Superfamily_domains:SSF49899		T		A		2216/3895	1.55E-05							MAMDC4,synonymous_variant,p.=,ENST00000445819,;MAMDC4,synonymous_variant,p.=,ENST00000317446,NM_206920.2;MAMDC4,non_coding_transcript_exon_variant,,ENST00000485732,;MAMDC4,downstream_gene_variant,,ENST00000481327,;MAMDC4,upstream_gene_variant,,ENST00000479475,;							LOW	2166/3651		AEGP_HUMAN			Transcript			.	ENSP00000411339	8.25E-06				1	
TKTL2	0	LGGM	GRCh37	4	164393605	164393605	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	3	.	.	ENST00000280605.3:c.1282G>A	p.Asp428Asn	p.D428N	ENST00000280605	NM_032136.4	428	Gat/Aat	0	1	1	UPI0000037C67	0	getma.org/pdb.php?prot=TKTL2_HUMAN&from=317&to=482&var=D428N	ENST00000280605		ENSG00000151005	25313		47	2.37		HGNC	p.D428N		TKTL2		SNV							ENST00000280605	protein_coding	getma.org/?cm=var&var=hg19,4,164393605,C,T&fts=all		hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF49,Pfam_domain:PF02779,Gene3D:3.40.50.970,SMART_domains:SM00861,Superfamily_domains:SSF52518		D/N		T	medium	1443/2791		getma.org/?cm=msa&ty=f&p=TKTL2_HUMAN&rb=317&re=482&var=D428N	deleterious(0)	Q96LZ0_HUMAN,Q8ND81_HUMAN			YES	TKTL2,missense_variant,p.Asp428Asn,ENST00000280605,NM_032136.4;							MODERATE	1282/1881	D428N	TKTL2_HUMAN			Transcript		benign(0.22)	.	ENSP00000280605		CCDS3805.1			1	
CPT2	0	LGGM	GRCh37	1	53668049	53668049	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	3	.	.	ENST00000371486.3:c.288T>C	p.His96=	p.H96=	ENST00000371486	NM_000098.2	96	caT/caC	0	1	1	UPI0000128303	0		ENST00000371486		ENSG00000157184	2330		49			HGNC	p.H96H		CPT2		SNV			1				ENST00000371486	protein_coding			hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF51,Pfam_domain:PF00755,Superfamily_domains:SSF52777		H		C		803/3094							YES	CPT2,synonymous_variant,p.=,ENST00000371486,NM_000098.2;CPT2,non_coding_transcript_exon_variant,,ENST00000468572,;							LOW	288/1977		CPT2_HUMAN			Transcript			.	ENSP00000360541		CCDS575.1			1	
KANSL1	0	LGGM	GRCh37	17	44117092	44117092	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	3	.	.	ENST00000262419.6:c.2179G>A	p.Val727Ile	p.V727I	ENST00000262419	NM_001193466.1	727	Gtc/Atc	0	1		UPI0001AE66EA	0	NA	ENST00000574590		ENSG00000120071	24565		38	1.155		HGNC	p.V727I		KANSL1		SNV			1				ENST00000572904	protein_coding	getma.org/?cm=var&var=hg19,17,44117092,C,T&fts=all		hmmpanther:PTHR22443,hmmpanther:PTHR22443:SF14		V/I		T	low	2406/5105		getma.org/?cm=msa&ty=f&p=KANL1_HUMAN&rb=601&re=800&var=V727I	tolerated(0.21)	I3L243_HUMAN,I3L233_HUMAN				KANSL1,missense_variant,p.Val727Ile,ENST00000262419,NM_001193466.1;KANSL1,missense_variant,p.Val84Ile,ENST00000393476,;KANSL1,missense_variant,p.Val727Ile,ENST00000574590,NM_001193465.1;KANSL1,missense_variant,p.Val727Ile,ENST00000572904,NM_015443.3;KANSL1,missense_variant,p.Val727Ile,ENST00000432791,;KANSL1,missense_variant,p.Val727Ile,ENST00000575318,;RP11-669E14.6,downstream_gene_variant,,ENST00000570454,;KANSL1,non_coding_transcript_exon_variant,,ENST00000572218,;KANSL1,non_coding_transcript_exon_variant,,ENST00000576870,;KANSL1,upstream_gene_variant,,ENST00000573286,;KANSL1,upstream_gene_variant,,ENST00000572679,;KANSL1,upstream_gene_variant,,ENST00000576137,;							MODERATE	2179/3318	V727I	KANL1_HUMAN			Transcript		benign(0.142)	.	ENSP00000461812		CCDS11503.1			1	
ABCB5	0	LGGM	GRCh37	7	20744369	20744369	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	3	.	.	ENST00000404938.2:c.2360A>T	p.Lys787Met	p.K787M	ENST00000404938	NM_001163941.1	787	aAg/aTg	0	1	1	UPI000173A253	0	getma.org/pdb.php?prot=ABCB5_HUMAN&from=247&to=523&var=K342M	ENST00000404938		ENSG00000004846	46		45	1.995		HGNC	p.K787M		ABCB5		SNV							ENST00000404938	protein_coding	getma.org/?cm=var&var=hg19,7,20744369,A,T&fts=all		Gene3D:2hydA01,Pfam_domain:PF00664,PROSITE_profiles:PS50929,hmmpanther:PTHR24221,hmmpanther:PTHR24221:SF2,Superfamily_domains:SSF90123		K/M		T	medium	3012/5811		getma.org/?cm=msa&ty=f&p=ABCB5_HUMAN&rb=247&re=523&var=K342M	tolerated(0.14)				YES	ABCB5,missense_variant,p.Lys787Met,ENST00000404938,NM_001163941.1;ABCB5,missense_variant,p.Lys342Met,ENST00000258738,NM_178559.5;							MODERATE	2360/3774	K342M	ABCB5_HUMAN			Transcript		possibly_damaging(0.554)	.	ENSP00000384881		CCDS55090.1			1	
HSP90AA1	0	LGGM	GRCh37	14	102568379	102568379	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	3	.	.	ENST00000334701.7:c.199C>T	p.Leu67Phe	p.L67F	ENST00000334701	NM_001017963.2	67	Ctc/Ttc	0	1	1	UPI0000408144	0	NA	ENST00000334701		ENSG00000080824	5253		45	0		HGNC	p.L67F		HSP90AA1		SNV							ENST00000334701	protein_coding	getma.org/?cm=var&var=hg19,14,102568379,G,A&fts=all				L/F		A	neutral	481/3510		getma.org/?cm=msa&ty=f&p=Q86SX1_HUMAN&rb=1&re=161&var=L67F	deleterious_low_confidence(0)	Q96HX7_HUMAN,Q8TBA7_HUMAN,Q86SX1_HUMAN,K9JA46_HUMAN			YES	HSP90AA1,missense_variant,p.Leu67Phe,ENST00000334701,NM_001017963.2;HSP90AA1,non_coding_transcript_exon_variant,,ENST00000558600,;HSP90AA1,intron_variant,,ENST00000557234,;							MODERATE	199/2565	L67F	HS90A_HUMAN			Transcript		unknown(0)	.	ENSP00000335153		CCDS32160.1			1	
FRMPD1	0	LGGM	GRCh37	9	37746399	37746399	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	3	.	.	ENST00000539465.1:c.4370A>G	p.Glu1457Gly	p.E1457G	ENST00000539465		1457	gAa/gGa	0	1		UPI000013D2CC	0	NA	ENST00000377765		ENSG00000070601	29159		14	1.905		HGNC	p.E1457G		FRMPD1		SNV							ENST00000377765	protein_coding	getma.org/?cm=var&var=hg19,9,37746399,A,G&fts=all		hmmpanther:PTHR13436:SF4,hmmpanther:PTHR13436		E/G		G	medium	4469/4971		getma.org/?cm=msa&ty=f&p=FRPD1_HUMAN&rb=1407&re=1576&var=E1457G	deleterious(0)	F5H0G3_HUMAN				FRMPD1,missense_variant,p.Glu1457Gly,ENST00000539465,;FRMPD1,missense_variant,p.Glu1457Gly,ENST00000377765,NM_014907.2;RP11-613M10.9,intron_variant,,ENST00000540557,;							MODERATE	4370/4737	E1457G	FRPD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000366995		CCDS6612.1			1	
DVL3	0	LGGM	GRCh37	3	183881514	183881514	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	3	.	.	ENST00000313143.3:c.231G>A	p.Trp77Ter	p.W77*	ENST00000313143	NM_004423.3	77	tgG/tgA	0	1	1	UPI00001299A9	0	NA	ENST00000313143		ENSG00000161202	3087		40	0		HGNC	p.W77X		DVL3		SNV							ENST00000313143	protein_coding	getma.org/?cm=var&var=hg19,3,183881514,G,A&fts=all		PROSITE_profiles:PS50841,hmmpanther:PTHR10878:SF6,hmmpanther:PTHR10878,Pfam_domain:PF00778,SMART_domains:SM00021,Superfamily_domains:SSF54236		W/*		A	NA	479/5254		NA		Q8WVA8_HUMAN,C9K0P9_HUMAN			YES	DVL3,stop_gained,p.Trp77Ter,ENST00000313143,NM_004423.3;DVL3,stop_gained,p.Trp77Ter,ENST00000431765,;DVL3,splice_region_variant,,ENST00000423300,;EIF2B5,intron_variant,,ENST00000444495,;DVL3,splice_region_variant,,ENST00000462665,;DVL3,splice_region_variant,,ENST00000478247,;DVL3,splice_region_variant,,ENST00000435708,;DVL3,upstream_gene_variant,,ENST00000467873,;DVL3,upstream_gene_variant,,ENST00000478639,;							HIGH	231/2151	W77*	DVL3_HUMAN			Transcript			.	ENSP00000316054		CCDS3253.1			1	
CENPF	0	LGGM	GRCh37	1	214816557	214816557	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	3	.	.	ENST00000366955.3:c.4876G>A	p.Ala1626Thr	p.A1626T	ENST00000366955	NM_016343.3	1626	Gca/Aca	0	1	1	UPI00001AE985	0	NA	ENST00000366955		ENSG00000117724	1857		47	1.845		HGNC	p.A1626T		CENPF		SNV							ENST00000366955	protein_coding	getma.org/?cm=var&var=hg19,1,214816557,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18874		A/T		A	low	5044/10307		getma.org/?cm=msa&ty=f&p=CENPF_HUMAN&rb=1689&re=1888&var=A1722T					YES	CENPF,missense_variant,p.Ala1626Thr,ENST00000366955,NM_016343.3;							MODERATE	4876/9345	A1722T	CENPF_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000355922		CCDS31023.1			1	
C1orf167	0	LGGM	GRCh37	1	11844277	11844277	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000433342.1:c.3124C>T	p.Arg1042Trp	p.R1042W	ENST00000433342		1042	Cgg/Tgg	0	1	1	UPI00015C73CD	0	NA	ENST00000433342		ENSG00000215910	25262		13	0		HGNC	p.R1042W	rs571154969	C1orf167		SNV							ENST00000433342	protein_coding	getma.org/?cm=var&var=hg19,1,11844277,C,T&fts=all				R/W		T	neutral	3124/4560	0.000364	getma.org/?cm=msa&ty=f&p=CA167_HUMAN&rb=971&re=1309&var=R1042W	tolerated(0.09)				YES	C1orf167,missense_variant,p.Arg1042Trp,ENST00000433342,;C1orf167,missense_variant,p.Arg402Trp,ENST00000312793,;C1orf167,missense_variant,p.Arg185Trp,ENST00000444493,;C1orf167,missense_variant,p.Arg128Trp,ENST00000449278,;MTHFR,downstream_gene_variant,,ENST00000376592,;MTHFR,downstream_gene_variant,,ENST00000376583,;MTHFR,downstream_gene_variant,,ENST00000376590,NM_005957.4;MTHFR,downstream_gene_variant,,ENST00000376585,;RP11-56N19.5,upstream_gene_variant,,ENST00000376620,;C1orf167,upstream_gene_variant,,ENST00000482358,;C1orf167,upstream_gene_variant,,ENST00000475041,;							MODERATE	3124/4422	R1042W	CA167_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000414909	0.000134				1	
PCNT	0	LGGM	GRCh37	21	47831517	47831517	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	3	.	.	ENST00000359568.5:c.5530C>T	p.Leu1844Phe	p.L1844F	ENST00000359568	NM_006031.5	1844	Ctc/Ttc	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		26	0.975		HGNC	p.L1844F		PCNT		SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47831517,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		L/F		T	low	5637/10560		getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=1801&re=1889&var=L1844F					YES	PCNT,missense_variant,p.Leu1844Phe,ENST00000359568,NM_006031.5;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;							MODERATE	5530/10011	L1844F	PCNT_HUMAN			Transcript		possibly_damaging(0.86)	.	ENSP00000352572		CCDS33592.1			1	
RBBP8NL	0	LGGM	GRCh37	20	60990932	60990932	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000252998.1:c.456T>A	p.Pro152=	p.P152=	ENST00000252998	NM_080833.2	152	ccT/ccA	0	1	1	UPI000013CDA2	0		ENST00000252998		ENSG00000130701	16144		13			HGNC	p.P152P		RBBP8NL		SNV							ENST00000252998	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15107,hmmpanther:PTHR15107:SF1		P		T		613/2793							YES	RBBP8NL,synonymous_variant,p.=,ENST00000252998,NM_080833.2;							LOW	456/1995		RB8NL_HUMAN			Transcript			.	ENSP00000252998		CCDS13498.1			1	
KIF26B	0	LGGM	GRCh37	1	245849034	245849034	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	3	.	.	ENST00000407071.2:c.2749G>A	p.Glu917Lys	p.E917K	ENST00000407071	NM_018012.3	917	Gaa/Aaa	0	1	1	UPI0000695D71	0	NA	ENST00000407071		ENSG00000162849	25484		20	2.14		HGNC	p.E917K		KIF26B		SNV							ENST00000407071	protein_coding	getma.org/?cm=var&var=hg19,1,245849034,G,A&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF363		E/K		A	medium	3189/7287		getma.org/?cm=msa&ty=f&p=KI26B_HUMAN&rb=809&re=1789&var=E917K	deleterious(0.01)	B4DF75_HUMAN			YES	KIF26B,missense_variant,p.Glu536Lys,ENST00000366518,;KIF26B,missense_variant,p.Glu917Lys,ENST00000407071,NM_018012.3;KIF26B,non_coding_transcript_exon_variant,,ENST00000483253,;							MODERATE	2749/6327	E917K	KI26B_HUMAN			Transcript		unknown(0)	.	ENSP00000385545		CCDS44342.1			1	
PTPRO	0	LGGM	GRCh37	12	15731864	15731864	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	3	.	.	ENST00000281171.4:c.2907A>T	p.Thr969=	p.T969=	ENST00000281171	NM_030667.2	969	acA/acT	0	1	1	UPI000013DC62	0		ENST00000281171		ENSG00000151490	9678		17			HGNC	p.T130T		PTPRO		SNV			1				ENST00000542557	protein_coding			PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF251,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		T		T		3237/5301				B4DS16_HUMAN			YES	PTPRO,synonymous_variant,p.=,ENST00000281171,NM_030667.2;PTPRO,synonymous_variant,p.=,ENST00000348962,NM_002848.3;PTPRO,synonymous_variant,p.=,ENST00000445537,NM_030671.2;PTPRO,synonymous_variant,p.=,ENST00000544244,NM_030670.2;PTPRO,synonymous_variant,p.=,ENST00000442921,NM_030669.2;PTPRO,synonymous_variant,p.=,ENST00000542557,NM_030668.2;PTPRO,upstream_gene_variant,,ENST00000535322,;PTPRO,3_prime_UTR_variant,,ENST00000535311,;PTPRO,non_coding_transcript_exon_variant,,ENST00000538907,;							LOW	2907/3651		PTPRO_HUMAN			Transcript			.	ENSP00000281171		CCDS8675.1			1	
THBS3	0	LGGM	GRCh37	1	155175021	155175021	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	3	.	.	ENST00000368378.3:c.373G>A	p.Val125Ile	p.V125I	ENST00000368378	NM_007112.4	125	Gtt/Att	0	1	1	UPI000013776E	0	NA	ENST00000368378		ENSG00000169231	11787		28	0.145		HGNC	p.V125I		THBS3		SNV							ENST00000368378	protein_coding	getma.org/?cm=var&var=hg19,1,155175021,C,T&fts=all		hmmpanther:PTHR10199,hmmpanther:PTHR10199:SF5,SMART_domains:SM00210,Superfamily_domains:SSF49899		V/I		T	neutral	394/3145		getma.org/?cm=msa&ty=f&p=TSP3_HUMAN&rb=23&re=193&var=V125I	tolerated(0.66)	Q2HIZ1_HUMAN,F5H4Z8_HUMAN,B3KQE1_HUMAN			YES	THBS3,missense_variant,p.Val125Ile,ENST00000368378,NM_007112.4,NM_001252607.1;THBS3,5_prime_UTR_variant,,ENST00000541990,;THBS3,intron_variant,,ENST00000457183,NM_001252608.1;THBS3,upstream_gene_variant,,ENST00000541576,;MTX1,upstream_gene_variant,,ENST00000368376,NM_002455.3;MTX1,upstream_gene_variant,,ENST00000316721,NM_198883.2;MTX1,upstream_gene_variant,,ENST00000609421,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000453136,;RP11-263K19.4,non_coding_transcript_exon_variant,,ENST00000430312,;RP11-263K19.4,non_coding_transcript_exon_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,upstream_gene_variant,,ENST00000460050,;THBS3,intron_variant,,ENST00000428962,;MTX1,upstream_gene_variant,,ENST00000481771,;MTX1,upstream_gene_variant,,ENST00000424959,;THBS3,upstream_gene_variant,,ENST00000496332,;							MODERATE	373/2871	V125I	TSP3_HUMAN			Transcript		benign(0.001)	.	ENSP00000357362		CCDS1099.1			1	
ROR1	0	LGGM	GRCh37	1	64605795	64605795	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	3	.	.	ENST00000371079.1:c.614C>T	p.Ala205Val	p.A205V	ENST00000371079	NM_005012.3	205	gCc/gTc	0	1	1	UPI00001AF82C	0	NA	ENST00000371079		ENSG00000185483	10256		18	2.455		HGNC	p.A205V		ROR1		SNV							ENST00000371080	protein_coding	getma.org/?cm=var&var=hg19,1,64605795,C,T&fts=all		Pfam_domain:PF01392,PIRSF_domain:PIRSF000624,PROSITE_profiles:PS50038,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF132		A/V		T	medium	989/5832		getma.org/?cm=msa&ty=f&p=ROR1_HUMAN&rb=170&re=297&var=A205V	deleterious(0.04)				YES	ROR1,missense_variant,p.Ala205Val,ENST00000371079,NM_005012.3;ROR1,missense_variant,p.Ala205Val,ENST00000371080,NM_001083592.1;ROR1,5_prime_UTR_variant,,ENST00000545203,;RP11-24J23.2,intron_variant,,ENST00000424995,;ROR1,non_coding_transcript_exon_variant,,ENST00000482426,;							MODERATE	614/2814	A205V	ROR1_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000360120		CCDS626.1			1	
EXOC3L1	0	LGGM	GRCh37	16	67221337	67221337	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	3	.	.	ENST00000314586.6:c.831G>A	p.Glu277=	p.E277=	ENST00000314586	NM_178516.3	277	gaG/gaA	0	1	1	UPI000013F886	0		ENST00000314586		ENSG00000179044	27540		12			HGNC	p.E221E		EXOC3L1		SNV							ENST00000563889	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21292,hmmpanther:PTHR21292:SF12,Pfam_domain:PF06046		E		T		1072/2510				H3BTH9_HUMAN			YES	EXOC3L1,synonymous_variant,p.=,ENST00000314586,NM_178516.3;EXOC3L1,synonymous_variant,p.=,ENST00000545725,;EXOC3L1,synonymous_variant,p.=,ENST00000563889,;KIAA0895L,upstream_gene_variant,,ENST00000290881,;KIAA0895L,upstream_gene_variant,,ENST00000561621,;KIAA0895L,upstream_gene_variant,,ENST00000563902,NM_001040715.1;E2F4,upstream_gene_variant,,ENST00000379378,NM_001950.3;EXOC3L1,downstream_gene_variant,,ENST00000564418,;EXOC3L1,intron_variant,,ENST00000562887,;KIAA0895L,upstream_gene_variant,,ENST00000563831,;KIAA0895L,upstream_gene_variant,,ENST00000564423,;EXOC3L1,intron_variant,,ENST00000564324,;KIAA0895L,upstream_gene_variant,,ENST00000569349,;E2F4,upstream_gene_variant,,ENST00000567007,;E2F4,upstream_gene_variant,,ENST00000568839,;E2F4,upstream_gene_variant,,ENST00000561904,;E2F4,upstream_gene_variant,,ENST00000569573,;EXOC3L1,upstream_gene_variant,,ENST00000563536,;E2F4,upstream_gene_variant,,ENST00000563238,;E2F4,upstream_gene_variant,,ENST00000568485,;E2F4,upstream_gene_variant,,ENST00000565849,;							LOW	831/2241		EX3L1_HUMAN			Transcript			.	ENSP00000325674		CCDS10832.1			1	
OBSCN	0	LGGM	GRCh37	1	228403423	228403423	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	3	.	.	ENST00000570156.2:c.1988G>A	p.Arg663His	p.R663H	ENST00000570156	NM_001271223.2	663	cGc/cAc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=619&to=698&var=R663H	ENST00000422127		ENSG00000154358	15719		12	0.55		HGNC	p.R663H	rs780411914,COSM904985,COSM1151989,COSM904986,COSM1151988	OBSCN		SNV						0,1,1,1,1	ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228403423,G,A&fts=all		hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/H		A	neutral	2032/24030	2.32E-05	getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=619&re=698&var=R663H						OBSCN,missense_variant,p.Arg663His,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Arg663His,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Arg663His,ENST00000284548,NM_052843.3;OBSCN,5_prime_UTR_variant,,ENST00000366707,;OBSCN,5_prime_UTR_variant,,ENST00000366709,;C1orf145,upstream_gene_variant,,ENST00000295012,;OBSCN,non_coding_transcript_exon_variant,,ENST00000493977,;C1orf145,upstream_gene_variant,,ENST00000337335,;C1orf145,upstream_gene_variant,,ENST00000472613,;					0,1,1,1,1		MODERATE	1988/23907	R663H	OBSCN_HUMAN			Transcript		possibly_damaging(0.563)	.	ENSP00000409493	8.27E-06	CCDS58065.1			1	
ANKRD13B	0	LGGM	GRCh37	17	27936284	27936284	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	3	.	.	ENST00000394859.3:c.746C>G	p.Ser249Cys	p.S249C	ENST00000394859	NM_152345.4	249	tCc/tGc	0	1	1	UPI0000246D82	0	NA	ENST00000394859		ENSG00000198720	26363		19	1.79		HGNC	p.S249C		ANKRD13B		SNV							ENST00000488766	protein_coding	getma.org/?cm=var&var=hg19,17,27936284,C,G&fts=all		hmmpanther:PTHR12447:SF3,hmmpanther:PTHR12447,Pfam_domain:PF11904		S/C		G	low	900/3214		getma.org/?cm=msa&ty=f&p=AN13B_HUMAN&rb=163&re=491&var=S249C	deleterious(0.02)	K7ENT0_HUMAN			YES	ANKRD13B,missense_variant,p.Ser249Cys,ENST00000394859,NM_152345.4;ANKRD13B,downstream_gene_variant,,ENST00000583728,;ANKRD13B,upstream_gene_variant,,ENST00000579719,;RP11-68I3.2,intron_variant,,ENST00000581474,;ANKRD13B,missense_variant,p.Ser249Cys,ENST00000488766,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000487527,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000493506,;ANKRD13B,non_coding_transcript_exon_variant,,ENST00000578943,;ANKRD13B,downstream_gene_variant,,ENST00000578811,;							MODERATE	746/1881	S249C	AN13B_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000378328		CCDS11251.1			1	
TFAP2C	0	LGGM	GRCh37	20	55208431	55208431	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	3	.	.	ENST00000201031.2:c.609C>T	p.Asn203=	p.N203=	ENST00000201031	NM_003222.3	203	aaC/aaT	0	1	1	UPI0000125BC8	0		ENST00000201031		ENSG00000087510	11744		21			HGNC	p.N203N		TFAP2C		SNV							ENST00000201031	protein_coding			hmmpanther:PTHR10812:SF9,hmmpanther:PTHR10812,Prints_domain:PR01751		N		T		852/2866				B4DWK3_HUMAN			YES	TFAP2C,synonymous_variant,p.=,ENST00000201031,NM_003222.3;TFAP2C,synonymous_variant,p.=,ENST00000544508,;TFAP2C,downstream_gene_variant,,ENST00000416606,;							LOW	609/1353		AP2C_HUMAN			Transcript			.	ENSP00000201031		CCDS13454.1			1	
CGB7	0	LGGM	GRCh37	19	49557590	49557590	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	3	.	.	ENST00000597853.1:c.456C>T	p.Ser152=	p.S152=	ENST00000597853		152	tcC/tcT	0	1	1	UPI00001619C1	0		ENST00000597853		ENSG00000196337	16451		9			HGNC	p.S150S		CGB7		SNV							ENST00000356213	protein_coding			Low_complexity_(Seg):seg		S		A		3328/3386				J3KP00_HUMAN			YES	CGB7,synonymous_variant,p.=,ENST00000597853,;CGB7,synonymous_variant,p.=,ENST00000356213,;CGB7,synonymous_variant,p.=,ENST00000596965,;CGB7,synonymous_variant,p.=,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,;							LOW	456/498		CGHB_HUMAN			Transcript			.	ENSP00000470813		CCDS33071.1			1	
FAM72A	0	LGGM	GRCh37	1	206145544	206145544	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	3	.	.	ENST00000367128.3:c.321G>T	p.Gln107His	p.Q107H	ENST00000367128		107	caG/caT	0	1	1	UPI0000046C34	0	NA	ENST00000367128		ENSG00000196550	24044		18	1.01		HGNC	p.Q67H		FAM72A		SNV							ENST00000341209	protein_coding	getma.org/?cm=var&var=hg19,1,206145544,G,T&fts=all		hmmpanther:PTHR31841,Pfam_domain:PF14976		Q/H		T	low	1169/2398		getma.org/?cm=msa&ty=f&p=FA72A_HUMAN&rb=1&re=147&var=Q107H	tolerated(0.34)	U3KPW2_HUMAN			YES	FAM72A,missense_variant,p.Gln107His,ENST00000367128,;FAM72A,missense_variant,p.Gln67His,ENST00000341209,NM_001123168.1;FAM72A,missense_variant,p.Gln78His,ENST00000431655,;FAM72A,missense_variant,p.Gln107His,ENST00000367129,;FAM72A,non_coding_transcript_exon_variant,,ENST00000470041,;FAM72A,downstream_gene_variant,,ENST00000481737,;							MODERATE	321/450	Q107H	FA72A_HUMAN			Transcript		benign(0.014)	.	ENSP00000356096		CCDS41458.1			1	
OTOG	0	LGGM	GRCh37	11	17630693	17630693	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	3	.	.	ENST00000399391.2:c.4327C>T	p.Pro1443Ser	p.P1443S	ENST00000399391	NM_001277269.1	1443	Cct/Tct	0	1	1	UPI0001662628	0	NA	ENST00000399391		ENSG00000188162	8516		10	2.96		HGNC	p.P449S		OTOG		SNV			1				ENST00000342528	protein_coding	getma.org/?cm=var&var=hg19,11,17630693,C,T&fts=all		hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Gene3D:2.10.25.10		P/S		T	medium	4327/8778		getma.org/?cm=msa&ty=f&p=OTOG_HUMAN&rb=1398&re=1597&var=P1443S		H9KVB3_HUMAN			YES	OTOG,missense_variant,p.Pro1370Ser,ENST00000399397,;OTOG,missense_variant,p.Pro1443Ser,ENST00000399391,NM_001277269.1;OTOG,missense_variant,p.Pro449Ser,ENST00000342528,;							MODERATE	4327/8778	P1443S	OTOG_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000382323		CCDS59225.1			1	
CDCA5	0	LGGM	GRCh37	11	64846926	64846926	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	3	.	.	ENST00000275517.3:c.577A>G	p.Arg193Gly	p.R193G	ENST00000275517	NM_080668.3	193	Agg/Ggg	0	1	1	UPI000006E2A4	0	NA	ENST00000275517		ENSG00000146670	14626		21	1.79		HGNC	p.R193G		CDCA5		SNV							ENST00000275517	protein_coding	getma.org/?cm=var&var=hg19,11,64846926,T,C&fts=all		Pfam_domain:PF09666,hmmpanther:PTHR31092,hmmpanther:PTHR31092:SF2		R/G		C	low	750/2587		getma.org/?cm=msa&ty=f&p=CDCA5_HUMAN&rb=89&re=215&var=R193G	tolerated(0.42)	B3KSI5_HUMAN			YES	CDCA5,missense_variant,p.Arg193Gly,ENST00000275517,NM_080668.3;CDCA5,missense_variant,p.Arg193Gly,ENST00000404147,;ZFPL1,upstream_gene_variant,,ENST00000294258,NM_006782.3;CDCA5,upstream_gene_variant,,ENST00000529290,;ZFPL1,upstream_gene_variant,,ENST00000526334,;CDCA5,upstream_gene_variant,,ENST00000525464,;ZFPL1,upstream_gene_variant,,ENST00000526945,;ZFPL1,upstream_gene_variant,,ENST00000525509,;ZFPL1,upstream_gene_variant,,ENST00000526791,;CDCA5,synonymous_variant,p.=,ENST00000524733,;CDCA5,3_prime_UTR_variant,,ENST00000527430,;CDCA5,non_coding_transcript_exon_variant,,ENST00000479032,;CDCA5,non_coding_transcript_exon_variant,,ENST00000531401,;CDCA5,intron_variant,,ENST00000533015,;ZFPL1,upstream_gene_variant,,ENST00000533216,;ZFPL1,upstream_gene_variant,,ENST00000526289,;ZFPL1,upstream_gene_variant,,ENST00000526440,;ZFPL1,upstream_gene_variant,,ENST00000453524,;CDCA5,downstream_gene_variant,,ENST00000462902,;ZFPL1,upstream_gene_variant,,ENST00000531761,;							MODERATE	577/759	R193G	CDCA5_HUMAN			Transcript		benign(0.015)	.	ENSP00000275517		CCDS8091.1			1	
LRRTM1	0	LGGM	GRCh37	2	80529789	80529789	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	3	.	.	ENST00000295057.3:c.1156C>T	p.Pro386Ser	p.P386S	ENST00000295057	NM_178839.4	386	Ccc/Tcc	0	1	1	UPI000013E1FE	0	NA	ENST00000295057		ENSG00000162951	19408		8	0		HGNC	p.P386S		LRRTM1		SNV							ENST00000295057	protein_coding	getma.org/?cm=var&var=hg19,2,80529789,G,A&fts=all		hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3		P/S		A	neutral	1813/2599		getma.org/?cm=msa&ty=f&p=LRRT1_HUMAN&rb=316&re=419&var=P386S	tolerated(0.6)	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN			YES	LRRTM1,missense_variant,p.Pro386Ser,ENST00000295057,NM_178839.4;LRRTM1,missense_variant,p.Pro386Ser,ENST00000409148,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.1;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000540488,;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Pro386Ser,ENST00000433224,;LRRTM1,missense_variant,p.Pro386Ser,ENST00000417012,;							MODERATE	1156/1569	P386S	LRRT1_HUMAN			Transcript		benign(0.004)	.	ENSP00000295057		CCDS1966.1			1	
TRMT13	0	LGGM	GRCh37	1	100606574	100606574	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	3	.	.	ENST00000370141.2:c.668A>G	p.Lys223Arg	p.K223R	ENST00000370141	NM_019083.2	223	aAg/aGg	0	1	1	UPI000013CAE6	0	NA	ENST00000370141		ENSG00000122435	25502		39	2.73		HGNC	p.K223R		TRMT13		SNV							ENST00000370141	protein_coding	getma.org/?cm=var&var=hg19,1,100606574,A,G&fts=all		Pfam_domain:PF05206,hmmpanther:PTHR12998,hmmpanther:PTHR12998:SF0		K/R		G	medium	674/3129		getma.org/?cm=msa&ty=f&p=TRM13_HUMAN&rb=165&re=470&var=K223R	deleterious(0.01)				YES	TRMT13,missense_variant,p.Lys223Arg,ENST00000370141,NM_019083.2;TRMT13,downstream_gene_variant,,ENST00000370139,;TRMT13,downstream_gene_variant,,ENST00000370143,;TRMT13,upstream_gene_variant,,ENST00000493651,;TRMT13,splice_region_variant,,ENST00000482437,;							MODERATE	668/1446	K223R	TRM13_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000359160		CCDS765.1			1	
SYTL4	0	LGGM	GRCh37	X	99933467	99933467	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	3	.	.	ENST00000455616.1:c.1788C>T	p.Cys596=	p.C596=	ENST00000455616		596	tgC/tgT	0	1		UPI00001AE9F2	0		ENST00000263033		ENSG00000102362	15588		10			HGNC	p.C596C		SYTL4		SNV							ENST00000372989	protein_coding			PROSITE_profiles:PS50004,hmmpanther:PTHR10024:SF9,hmmpanther:PTHR10024,Pfam_domain:PF00168,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		C		A		1976/2335				B3KUZ4_HUMAN				SYTL4,synonymous_variant,p.=,ENST00000455616,;SYTL4,synonymous_variant,p.=,ENST00000372989,NM_080737.2;SYTL4,synonymous_variant,p.=,ENST00000454200,;SYTL4,synonymous_variant,p.=,ENST00000276141,NM_001174068.1;SYTL4,synonymous_variant,p.=,ENST00000263033,NM_001129896.2;RP11-524D16__A.3,downstream_gene_variant,,ENST00000568809,;SYTL4,non_coding_transcript_exon_variant,,ENST00000491602,;							LOW	1788/2016		SYTL4_HUMAN			Transcript			.	ENSP00000263033		CCDS14472.1			1	
RECQL5	0	LGGM	GRCh37	17	73618114	73618114	+	downstream_gene_variant	3'Flank	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	3	.	.				ENST00000317905	NM_004259.6			0	1	1	UPI0000133477	0		ENST00000317905		ENSG00000108469	9950		23		4820	HGNC	p.K70T		RECQL5		SNV							ENST00000293201	protein_coding							C		-/3704				Q9BW80_HUMAN,Q9BSD6_HUMAN,J3QLU0_HUMAN,J3KTQ2_HUMAN			YES	RECQL5,downstream_gene_variant,,ENST00000317905,NM_004259.6;RECQL5,downstream_gene_variant,,ENST00000423245,;RECQL5,downstream_gene_variant,,ENST00000581825,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578382,;MYO15B,non_coding_transcript_exon_variant,,ENST00000578220,;MYO15B,non_coding_transcript_exon_variant,,ENST00000580096,;RECQL5,downstream_gene_variant,,ENST00000443199,;MYO15B,upstream_gene_variant,,ENST00000580414,;MYO15B,upstream_gene_variant,,ENST00000577948,;MYO15B,upstream_gene_variant,,ENST00000580262,;MYO15B,downstream_gene_variant,,ENST00000577342,;MYO15B,downstream_gene_variant,,ENST00000583140,;MYO15B,non_coding_transcript_exon_variant,,ENST00000577613,;MYO15B,non_coding_transcript_exon_variant,,ENST00000577986,;RECQL5,downstream_gene_variant,,ENST00000578865,;MYO15B,downstream_gene_variant,,ENST00000578005,;MYO15B,downstream_gene_variant,,ENST00000577785,;MYO15B,downstream_gene_variant,,ENST00000582597,;MYO15B,downstream_gene_variant,,ENST00000579052,;MYO15B,downstream_gene_variant,,ENST00000578960,;MYO15B,downstream_gene_variant,,ENST00000579048,;MYO15B,downstream_gene_variant,,ENST00000577296,;MYO15B,downstream_gene_variant,,ENST00000578300,;							MODIFIER	-/2976		RECQ5_HUMAN			Transcript			.	ENSP00000317636		CCDS42380.1			1	
STON1	0	LGGM	GRCh37	2	48808110	48808110	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	3	.	.	ENST00000309835.3:c.338C>A	p.Pro113Gln	p.P113Q	ENST00000309835		113	cCa/cAa	0	1		UPI000006E627	0	NA	ENST00000404752		ENSG00000243244	17003		45	1.78		HGNC	p.P113Q		STON1		SNV							ENST00000405008	protein_coding	getma.org/?cm=var&var=hg19,2,48808110,C,A&fts=all		PIRSF_domain:PIRSF037099,hmmpanther:PTHR11998,hmmpanther:PTHR11998:SF18		P/Q		A	low	431/5511		getma.org/?cm=msa&ty=f&p=STON1_HUMAN&rb=1&re=200&var=P113Q	deleterious(0.02)					STON1,missense_variant,p.Pro113Gln,ENST00000309835,;STON1,missense_variant,p.Pro113Gln,ENST00000406226,NM_001198595.1;STON1,missense_variant,p.Pro113Gln,ENST00000404752,NM_006873.3;STON1-GTF2A1L,missense_variant,p.Pro113Gln,ENST00000394754,NM_172311.2;STON1-GTF2A1L,missense_variant,p.Pro113Gln,ENST00000405008,;STON1-GTF2A1L,missense_variant,p.Pro113Gln,ENST00000402114,NM_001198593.1;STON1-GTF2A1L,missense_variant,p.Pro113Gln,ENST00000309827,;STON1-GTF2A1L,missense_variant,p.Pro113Gln,ENST00000394751,NM_001198594.1;STON1,upstream_gene_variant,,ENST00000444932,;							MODERATE	338/2208	P113Q	STON1_HUMAN			Transcript		possibly_damaging(0.602)	.	ENSP00000385273		CCDS1841.1			1	
PDE6A	0	LGGM	GRCh37	5	149264343	149264343	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	3	.	.	ENST00000255266.5:c.1926G>T	p.Glu642Asp	p.E642D	ENST00000255266	NM_000440.2	642	gaG/gaT	0	1	1	UPI000013CE9F	0	getma.org/pdb.php?prot=PDE6A_HUMAN&from=558&to=806&var=E642D	ENST00000255266		ENSG00000132915	8785		43	1.335		HGNC	p.E642D		PDE6A		SNV			1				ENST00000255266	protein_coding	getma.org/?cm=var&var=hg19,5,149264343,C,A&fts=all		hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Gene3D:1.10.1300.10,Pfam_domain:PF00233,SMART_domains:SM00471,Superfamily_domains:SSF109604		E/D		A	low	2046/5642		getma.org/?cm=msa&ty=f&p=PDE6A_HUMAN&rb=558&re=806&var=E642D	tolerated(0.11)	O75316_HUMAN			YES	PDE6A,missense_variant,p.Glu642Asp,ENST00000255266,NM_000440.2;PDE6A,splice_region_variant,,ENST00000508173,;							MODERATE	1926/2583	E642D	PDE6A_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000255266		CCDS4299.1			1	
NFYC	0	LGGM	GRCh37	1	41232268	41232268	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	3	.	.	ENST00000425457.2:c.721G>A	p.Val241Met	p.V241M	ENST00000425457	NM_001142588.1	241	Gtg/Atg	0	1		UPI000012717E	0	NA	ENST00000308733		ENSG00000066136	7806		12	1.845		HGNC	p.G283D	rs761051807	NFYC		SNV							ENST00000372669	protein_coding	getma.org/?cm=var&var=hg19,1,41232268,G,A&fts=all		hmmpanther:PTHR10252,hmmpanther:PTHR10252:SF8		V/M		A	low	727/2158	1.56E-05	getma.org/?cm=msa&ty=f&p=NFYC_HUMAN&rb=106&re=305&var=V241M	deleterious_low_confidence(0)	Q8TCN9_HUMAN,Q5T6K7_HUMAN,Q14497_HUMAN,E9PQR2_HUMAN,E9PJA8_HUMAN				NFYC,missense_variant,p.Val241Met,ENST00000372652,;NFYC,missense_variant,p.Val241Met,ENST00000308733,;NFYC,missense_variant,p.Val241Met,ENST00000447388,NM_014223.4,NM_001142587.1;NFYC,missense_variant,p.Val241Met,ENST00000456393,;NFYC,missense_variant,p.Val207Met,ENST00000372653,NM_001142590.1;NFYC,missense_variant,p.Val241Met,ENST00000440226,;NFYC,missense_variant,p.Val241Met,ENST00000425457,NM_001142588.1;NFYC,missense_variant,p.Val241Met,ENST00000372654,;NFYC,missense_variant,p.Val203Met,ENST00000427410,NM_001142589.1;NFYC,missense_variant,p.Val241Met,ENST00000372651,;NFYC,missense_variant,p.Gly283Asp,ENST00000372669,;NFYC,missense_variant,p.Val124Met,ENST00000414185,;NFYC,downstream_gene_variant,,ENST00000416859,;NFYC,splice_region_variant,,ENST00000483091,;NFYC,splice_region_variant,,ENST00000424419,;NFYC,splice_region_variant,,ENST00000525349,;NFYC,upstream_gene_variant,,ENST00000496608,;NFYC,upstream_gene_variant,,ENST00000488635,;							MODERATE	721/1377	V241M	NFYC_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000312617	8.24E-06				1	
SLC35G6	0	LGGM	GRCh37	17	7386284	7386284	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	3	.	.	ENST00000412468.2:c.981C>T	p.Asn327=	p.N327=	ENST00000412468	NM_001102614.1	327	aaC/aaT	0	1	1	UPI000021D25A	0		ENST00000412468		ENSG00000259224	31351		33			HGNC	p.N327N		SLC35G6		SNV							ENST00000412468	protein_coding			hmmpanther:PTHR22911,hmmpanther:PTHR22911:SF32,Transmembrane_helices:TMhelix		N		T		1096/1195							YES	SLC35G6,synonymous_variant,p.=,ENST00000412468,NM_001102614.1;ZBTB4,intron_variant,,ENST00000311403,NM_020899.3;POLR2A,upstream_gene_variant,,ENST00000322644,NM_000937.4;ZBTB4,upstream_gene_variant,,ENST00000380599,NM_001128833.1;POLR2A,upstream_gene_variant,,ENST00000572844,;							LOW	981/1017		S35G6_HUMAN			Transcript			.	ENSP00000396523		CCDS45603.1			1	
BSN	0	LGGM	GRCh37	3	49680265	49680265	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	3	.	.	ENST00000296452.4:c.1198T>A	p.Leu400Met	p.L400M	ENST00000296452	NM_003458.3	400	Ttg/Atg	0	1	1	UPI000013E33C	0	NA	ENST00000296452		ENSG00000164061	1117		25	0		HGNC	p.L400M		BSN		SNV							ENST00000296452	protein_coding	getma.org/?cm=var&var=hg19,3,49680265,T,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF1,Low_complexity_(Seg):seg		L/M		A	neutral	1312/15955		getma.org/?cm=msa&ty=f&p=BSN_HUMAN&rb=227&re=426&var=L400M					YES	BSN,missense_variant,p.Leu400Met,ENST00000296452,NM_003458.3;BSN-AS1,upstream_gene_variant,,ENST00000442384,;BSN,upstream_gene_variant,,ENST00000467456,;							MODERATE	1198/11781	L400M	BSN_HUMAN			Transcript		unknown(0)	.	ENSP00000296452		CCDS2800.1			1	
GPAA1	0	LGGM	GRCh37	8	145138118	145138118	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	3	.	.	ENST00000355091.4:c.166G>T	p.Gly56Cys	p.G56C	ENST00000355091	NM_003801.3	56	Ggc/Tgc	0	1	1	UPI0000073ECC	0	NA	ENST00000355091		ENSG00000197858	4446		23	1.95		HGNC	p.G56C		GPAA1		SNV							ENST00000355091	protein_coding	getma.org/?cm=var&var=hg19,8,145138118,G,T&fts=all		hmmpanther:PTHR13304:SF0,hmmpanther:PTHR13304,PIRSF_domain:PIRSF036762		G/C		T	medium	287/2078		getma.org/?cm=msa&ty=f&p=GPAA1_HUMAN&rb=1&re=123&var=G56C	tolerated(0.11)	E9PLG8_HUMAN			YES	GPAA1,missense_variant,p.Gly56Cys,ENST00000355091,NM_003801.3;GPAA1,missense_variant,p.Gly56Cys,ENST00000525087,;GPAA1,missense_variant,p.Gly56Cys,ENST00000524418,;GPAA1,missense_variant,p.Gly7Cys,ENST00000530258,;GPAA1,intron_variant,,ENST00000361036,;EXOSC4,downstream_gene_variant,,ENST00000527954,;EXOSC4,downstream_gene_variant,,ENST00000316052,NM_019037.2;EXOSC4,downstream_gene_variant,,ENST00000525936,;CTD-3065J16.9,upstream_gene_variant,,ENST00000524499,;GPAA1,non_coding_transcript_exon_variant,,ENST00000527144,;GPAA1,non_coding_transcript_exon_variant,,ENST00000526341,;GPAA1,upstream_gene_variant,,ENST00000526233,;GPAA1,missense_variant,p.Gly56Cys,ENST00000528073,;GPAA1,missense_variant,p.Gly56Cys,ENST00000529503,;GPAA1,non_coding_transcript_exon_variant,,ENST00000532758,;GPAA1,intron_variant,,ENST00000530633,;GPAA1,upstream_gene_variant,,ENST00000529638,;GPAA1,upstream_gene_variant,,ENST00000534072,;GPAA1,upstream_gene_variant,,ENST00000530796,;GPAA1,upstream_gene_variant,,ENST00000525308,;GPAA1,upstream_gene_variant,,ENST00000527653,;GPAA1,upstream_gene_variant,,ENST00000531593,;							MODERATE	166/1866	G56C	GPAA1_HUMAN			Transcript		benign(0.401)	.	ENSP00000347206		CCDS43776.1			1	
SLC2A7	0	LGGM	GRCh37	1	9085075	9085075	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000400906.1:c.110A>T	p.Gln37Leu	p.Q37L	ENST00000400906	NM_207420.2	37	cAg/cTg	0	1	1	UPI00001A73A8	0	NA	ENST00000400906		ENSG00000197241	13445		13	1.915		HGNC	p.Q37L		SLC2A7		SNV							ENST00000400906	protein_coding	getma.org/?cm=var&var=hg19,1,9085075,T,A&fts=all		Pfam_domain:PF00083,Prints_domain:PR00171,PROSITE_profiles:PS50850,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF227,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		Q/L		A	medium	110/1539		getma.org/?cm=msa&ty=f&p=GTR7_HUMAN&rb=26&re=481&var=Q37L	tolerated(1)				YES	SLC2A7,missense_variant,p.Gln37Leu,ENST00000400906,NM_207420.2;							MODERATE	110/1539	Q37L	GTR7_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000383698		CCDS98.2			1	
PIEZO1	0	LGGM	GRCh37	16	88782220	88782220	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	3	.	.	ENST00000301015.9:c.7359G>A	p.Lys2453=	p.K2453=	ENST00000301015	NM_001142864.2	2453	aaG/aaA	0	1	1	UPI0001B300F3	0		ENST00000301015		ENSG00000103335	28993		8			HGNC	p.V309I	rs764668729	PIEZO1	0.000126	SNV			1				ENST00000327397	protein_coding			hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF40,Pfam_domain:PF12166		K		T		7606/8072							YES	PIEZO1,missense_variant,p.Val309Ile,ENST00000327397,;PIEZO1,synonymous_variant,p.=,ENST00000301015,NM_001142864.2;PIEZO1,3_prime_UTR_variant,,ENST00000518793,;CTU2,downstream_gene_variant,,ENST00000567949,;CTU2,downstream_gene_variant,,ENST00000453996,NM_001012759.1;CTU2,downstream_gene_variant,,ENST00000312060,NM_001012762.1;CTU2,downstream_gene_variant,,ENST00000378384,;CTU2,downstream_gene_variant,,ENST00000564921,;PIEZO1,downstream_gene_variant,,ENST00000466823,;CTU2,downstream_gene_variant,,ENST00000567316,;MIR4722,downstream_gene_variant,,ENST00000578292,;RP5-1142A6.9,upstream_gene_variant,,ENST00000564984,;PIEZO1,3_prime_UTR_variant,,ENST00000419505,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000484567,;PIEZO1,non_coding_transcript_exon_variant,,ENST00000521877,;CTU2,downstream_gene_variant,,ENST00000566637,;CTU2,downstream_gene_variant,,ENST00000564105,;PIEZO1,downstream_gene_variant,,ENST00000497793,;PIEZO1,downstream_gene_variant,,ENST00000495568,;CTU2,downstream_gene_variant,,ENST00000564584,;CTU2,downstream_gene_variant,,ENST00000565071,;PIEZO1,downstream_gene_variant,,ENST00000472168,;CTU2,downstream_gene_variant,,ENST00000562011,;							LOW	7359/7566		PIEZ1_HUMAN			Transcript			.	ENSP00000301015	3.89E-05	CCDS54058.1			1	
FBN3	0	LGGM	GRCh37	19	8188394	8188394	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	3	.	.	ENST00000600128.1:c.3036C>A	p.Ala1012=	p.A1012=	ENST00000600128		1012	gcC/gcA	0	1		UPI000013D88F	0		ENST00000270509		ENSG00000142449	18794		15			HGNC	p.A1012A		FBN3		SNV							ENST00000600128	protein_coding			PROSITE_profiles:PS50026,hmmpanther:PTHR24039:SF0,hmmpanther:PTHR24039,PROSITE_patterns:PS01186,PROSITE_patterns:PS00010,Gene3D:2.10.25.10,Pfam_domain:PF07645,SMART_domains:SM00181,PIRSF_domain:PIRSF036312,SMART_domains:SM00179,Superfamily_domains:SSF57196		A		T		3322/9232								FBN3,synonymous_variant,p.=,ENST00000600128,;FBN3,synonymous_variant,p.=,ENST00000270509,NM_032447.3;FBN3,synonymous_variant,p.=,ENST00000601739,;							LOW	3036/8430		FBN3_HUMAN			Transcript			.	ENSP00000270509		CCDS12196.1			1	
IGKV6D-41	0	LGGM	GRCh37	2	90108818	90108818	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	3	.	.	ENST00000390271.2:c.83C>T	p.Pro28Leu	p.P28L	ENST00000390271		28	cCa/cTa	0	1	1	UPI0000116D04	0		ENST00000390271		ENSG00000211626	5838		38			HGNC	p.P28L		IGKV6D-41		SNV							ENST00000390271	IG_V_gene			Superfamily_domains:SSF48726,SMART_domains:SM00409,Pfam_domain:PF07686,Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146,PROSITE_profiles:PS50835		P/L		T		109/371			deleterious(0)				YES	IGKV6D-41,missense_variant,p.Pro28Leu,ENST00000390271,;							MODERATE	83/345					Transcript		possibly_damaging(0.874)	.	ENSP00000374806					1	
ENPP7	0	LGGM	GRCh37	17	77711766	77711766	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	3	.	.	ENST00000328313.5:c.1298C>A	p.Ser433Tyr	p.S433Y	ENST00000328313	NM_178543.3	433	tCt/tAt	0	1	1	UPI00001983C8	0	NA	ENST00000328313		ENSG00000182156	23764		33	0.69		HGNC	p.S134Y		ENPP7		SNV							ENST00000576512	protein_coding	getma.org/?cm=var&var=hg19,17,77711766,C,A&fts=all		hmmpanther:PTHR10151,hmmpanther:PTHR10151:SF63		S/Y		A	neutral	1519/2043		getma.org/?cm=msa&ty=f&p=ENPP7_HUMAN&rb=357&re=458&var=S433Y	deleterious_low_confidence(0.02)	I3L3G5_HUMAN			YES	ENPP7,missense_variant,p.Ser433Tyr,ENST00000328313,NM_178543.3;ENPP7,missense_variant,p.Ser134Tyr,ENST00000576512,;							MODERATE	1298/1377	S433Y	ENPP7_HUMAN			Transcript		benign(0.099)	.	ENSP00000332656		CCDS11763.1			1	
OR10T2	0	LGGM	GRCh37	1	158369097	158369097	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	3	.	.	ENST00000334438.1:c.160T>A	p.Trp54Arg	p.W54R	ENST00000334438	NM_001004475.1	54	Tgg/Agg	0	1	1	UPI000003F220	0	NA	ENST00000334438		ENSG00000186306	14816		44	-1.785		HGNC	p.W54R		OR10T2		SNV							ENST00000334438	protein_coding	getma.org/?cm=var&var=hg19,1,158369097,A,T&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF98,Superfamily_domains:SSF81321		W/R		T	neutral	160/945		getma.org/?cm=msa&ty=f&p=O10T2_HUMAN&rb=1&re=139&var=W54R	tolerated(1)				YES	OR10T2,missense_variant,p.Trp54Arg,ENST00000334438,NM_001004475.1;							MODERATE	160/945	W54R	O10T2_HUMAN			Transcript		benign(0)	.	ENSP00000334115		CCDS30895.1			1	
SPEG	0	LGGM	GRCh37	2	220331909	220331909	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	3	.	.	ENST00000312358.7:c.2895C>T	p.Ser965=	p.S965=	ENST00000312358	NM_005876.4	965	agC/agT	0	1	1	UPI000066D99E	0		ENST00000312358		ENSG00000072195	16901		23			HGNC	p.S965S		SPEG		SNV			1				ENST00000312358	protein_coding			PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Gene3D:2.60.40.10		S		T		3027/10782				B9A038_HUMAN			YES	SPEG,synonymous_variant,p.=,ENST00000312358,NM_005876.4;SPEG,downstream_gene_variant,,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000396688,NM_001173476.1;SPEG,downstream_gene_variant,,ENST00000396689,;SPEG,downstream_gene_variant,,ENST00000396686,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000498378,;SPEG,downstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000496786,;SPEG,downstream_gene_variant,,ENST00000464989,;SPEG,upstream_gene_variant,,ENST00000485069,;SPEG,downstream_gene_variant,,ENST00000475921,;							LOW	2895/9804		SPEG_HUMAN			Transcript			.	ENSP00000311684		CCDS42824.1			1	
EMP2	0	LGGM	GRCh37	16	10626936	10626936	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	3	.	.	ENST00000359543.3:c.330G>A	p.Met110Ile	p.M110I	ENST00000359543	NM_001424.4	110	atG/atA	0	1	1	UPI0000129EAA	0	NA	ENST00000359543		ENSG00000213853	3334		22	2.93		HGNC	p.M110I		EMP2		SNV			1				ENST00000359543	protein_coding	getma.org/?cm=var&var=hg19,16,10626936,C,T&fts=all		Pfam_domain:PF00822,Prints_domain:PR01453,hmmpanther:PTHR10671,hmmpanther:PTHR10671:SF32,Transmembrane_helices:TMhelix		M/I		T	medium	540/5197		getma.org/?cm=msa&ty=f&p=EMP2_HUMAN&rb=1&re=160&var=M110I	deleterious(0.03)				YES	EMP2,missense_variant,p.Met110Ile,ENST00000359543,NM_001424.4;EMP2,missense_variant,p.Met110Ile,ENST00000536829,;RP11-27M24.3,upstream_gene_variant,,ENST00000566787,;RP11-27M24.1,downstream_gene_variant,,ENST00000535363,;EMP2,upstream_gene_variant,,ENST00000566033,;							MODERATE	330/504	M110I	EMP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000352540		CCDS10541.1			1	
RRN3	0	LGGM	GRCh37	16	15155747	15155747	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	3	.	.	ENST00000198767.6:c.1810G>T	p.Glu604Ter	p.E604*	ENST00000198767	NM_018427.3	604	Gaa/Taa	0	1	1	UPI000006E1BF	0	NA	ENST00000198767		ENSG00000085721	30346		22	0		HGNC	p.E571X		RRN3		SNV							ENST00000327307	protein_coding	getma.org/?cm=var&var=hg19,16,15155747,C,A&fts=all		hmmpanther:PTHR12790		E/*		A	NA	1894/3762		NA		B4E3T2_HUMAN,B4DZL9_HUMAN			YES	RRN3,stop_gained,p.Glu604Ter,ENST00000198767,NM_018427.3;RRN3,stop_gained,p.Glu574Ter,ENST00000429751,;RRN3,stop_gained,p.Glu604Ter,ENST00000563559,;RRN3,stop_gained,p.Glu571Ter,ENST00000327307,;RRN3,stop_gained,p.Glu422Ter,ENST00000540462,;PDXDC1,intron_variant,,ENST00000535621,NM_001285449.1;							HIGH	1810/1956	E604*	RRN3_HUMAN			Transcript			.	ENSP00000198767		CCDS10559.1			1	
ZNF106	0	LGGM	GRCh37	15	42709510	42709510	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	3	.	.	ENST00000263805.4:c.5644G>T	p.Asp1882Tyr	p.D1882Y	ENST00000263805	NM_022473.1	1882	Gat/Tat	0	1	1	UPI000006D6CC	0	NA	ENST00000263805		ENSG00000103994	12886		37	0.345		HGNC	p.D1110Y		ZNF106		SNV							ENST00000565380	protein_coding	getma.org/?cm=var&var=hg19,15,42709510,C,A&fts=all		hmmpanther:PTHR14435		D/Y		A	neutral	5971/10460		getma.org/?cm=msa&ty=f&p=ZF106_HUMAN&rb=1852&re=1883&var=D1882Y	deleterious(0)	H3BNX5_HUMAN			YES	ZNF106,missense_variant,p.Asp1882Tyr,ENST00000263805,NM_022473.1;ZNF106,missense_variant,p.Asp1110Tyr,ENST00000565380,NM_001284307.1;ZNF106,missense_variant,p.Asp1067Tyr,ENST00000565611,NM_001284306.1;ZNF106,missense_variant,p.Asp849Tyr,ENST00000565500,;ZNF106,intron_variant,,ENST00000569648,;CAPN3,downstream_gene_variant,,ENST00000397163,NM_000070.2;CAPN3,downstream_gene_variant,,ENST00000356316,;CAPN3,downstream_gene_variant,,ENST00000349748,NM_173087.1;CAPN3,downstream_gene_variant,,ENST00000397200,NM_173088.1;CAPN3,downstream_gene_variant,,ENST00000337571,NM_173089.1;CAPN3,downstream_gene_variant,,ENST00000397204,NM_173090.1;CAPN3,downstream_gene_variant,,ENST00000561817,;RP11-164J13.1,downstream_gene_variant,,ENST00000495723,;RP11-164J13.1,downstream_gene_variant,,ENST00000466369,;RP11-164J13.1,downstream_gene_variant,,ENST00000549793,;ZNF106,downstream_gene_variant,,ENST00000565660,;CAPN3,downstream_gene_variant,,ENST00000466222,;ZNF106,downstream_gene_variant,,ENST00000568906,;							MODERATE	5644/5652	D1882Y	ZN106_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000263805		CCDS32208.1			1	
SLC5A10	0	LGGM	GRCh37	17	18918496	18918496	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	4	3	.	.	ENST00000395647.2:c.1273C>T	p.Leu425Phe	p.L425F	ENST00000395647	NM_152351.4	425	Ctc/Ttc	0	1		UPI000003ED41	0	getma.org/pdb.php?prot=SC5AA_HUMAN&from=50&to=479&var=L409F	ENST00000395645		ENSG00000154025	23155		7	3.87		HGNC	p.L425F		SLC5A10		SNV							ENST00000395647	protein_coding	getma.org/?cm=var&var=hg19,17,18918496,C,T&fts=all		PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF57,TIGRFAM_domain:TIGR00813,Pfam_domain:PF00474		L/F		T	high	1243/2069		getma.org/?cm=msa&ty=f&p=SC5AA_HUMAN&rb=50&re=479&var=L409F	deleterious(0)					SLC5A10,missense_variant,p.Leu342Phe,ENST00000317977,NM_001282417.1;SLC5A10,missense_variant,p.Leu342Phe,ENST00000395642,;SLC5A10,missense_variant,p.Leu425Phe,ENST00000395647,NM_152351.4;SLC5A10,missense_variant,p.Leu409Phe,ENST00000395645,NM_001042450.2;SLC5A10,missense_variant,p.Leu382Phe,ENST00000395643,NM_001270648.1;SLC5A10,missense_variant,p.Leu373Phe,ENST00000417251,NM_001270649.1;SLC5A10,upstream_gene_variant,,ENST00000584658,;							MODERATE	1225/1791	L409F	SC5AA_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000379007		CCDS42275.1			1	
CPT1A	0	LGGM	GRCh37	11	68571563	68571563	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	3	.	.	ENST00000265641.5:c.460G>A	p.Val154Ile	p.V154I	ENST00000265641	NM_001876.3	154	Gtc/Atc	0	1	1	UPI000013D658	0	NA	ENST00000265641		ENSG00000110090	2328		20	2.655		HGNC	p.V154I		CPT1A		SNV			1				ENST00000539743	protein_coding	getma.org/?cm=var&var=hg19,11,68571563,C,T&fts=all		hmmpanther:PTHR22589,hmmpanther:PTHR22589:SF49		V/I		T	medium	615/5232		getma.org/?cm=msa&ty=f&p=CPT1A_HUMAN&rb=1&re=169&var=V154I	tolerated(0.07)	Q8WZ48_HUMAN,H3BUV7_HUMAN,H3BUJ0_HUMAN,H3BP22_HUMAN			YES	CPT1A,missense_variant,p.Val154Ile,ENST00000265641,NM_001876.3;CPT1A,missense_variant,p.Val154Ile,ENST00000376618,NM_001031847.2;CPT1A,missense_variant,p.Val154Ile,ENST00000540367,;CPT1A,missense_variant,p.Val154Ile,ENST00000539743,;CPT1A,upstream_gene_variant,,ENST00000538994,;CPT1A,downstream_gene_variant,,ENST00000565318,;CPT1A,downstream_gene_variant,,ENST00000569129,;							MODERATE	460/2322	V154I	CPT1A_HUMAN			Transcript		benign(0.049)	.	ENSP00000265641		CCDS8185.1			1	
PLBD2	0	LGGM	GRCh37	12	113824846	113824846	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	3	.	.	ENST00000280800.3:c.1391G>A	p.Arg464Gln	p.R464Q	ENST00000280800	NM_173542.3	464	cGg/cAg	0	1	1	UPI000013DC40	0	getma.org/pdb.php?prot=PLBL2_HUMAN&from=60&to=589&var=R464Q	ENST00000280800		ENSG00000151176	27283		31	3.365		HGNC	p.R464Q	rs748693541	PLBD2		SNV				9.65E-05			ENST00000280800	protein_coding	getma.org/?cm=var&var=hg19,12,113824846,G,A&fts=all		hmmpanther:PTHR12370:SF3,hmmpanther:PTHR12370,Pfam_domain:PF04916		R/Q		A	medium	1422/2573	3.00E-05	getma.org/?cm=msa&ty=f&p=PLBL2_HUMAN&rb=60&re=589&var=R464Q	deleterious(0.03)				YES	PLBD2,missense_variant,p.Arg464Gln,ENST00000280800,NM_173542.3;PLBD2,missense_variant,p.Arg432Gln,ENST00000545182,NM_001159727.1;							MODERATE	1391/1770	R464Q	PLBL2_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000280800	2.47E-05	CCDS9168.1			1	
DENND2A	0	LGGM	GRCh37	7	140246613	140246613	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	3	.	.	ENST00000275884.6:c.2164G>T	p.Gly722Cys	p.G722C	ENST00000275884		722	Ggt/Tgt	0	1	1	UPI00001C1E63	0	NA	ENST00000275884		ENSG00000146966	22212		26	3.12		HGNC	p.G722C	rs759385072	DENND2A		SNV							ENST00000496613	protein_coding	getma.org/?cm=var&var=hg19,7,140246613,C,A&fts=all		SMART_domains:SM00799,Pfam_domain:PF02141,hmmpanther:PTHR15288:SF3,hmmpanther:PTHR15288,PROSITE_profiles:PS50211		G/C		A	medium	2582/3735		getma.org/?cm=msa&ty=f&p=DEN2A_HUMAN&rb=660&re=844&var=G722C	deleterious(0)	C9JD15_HUMAN,C9JAA0_HUMAN,C9IYZ8_HUMAN,C9IY76_HUMAN			YES	DENND2A,missense_variant,p.Gly722Cys,ENST00000275884,;DENND2A,missense_variant,p.Gly722Cys,ENST00000492720,;DENND2A,missense_variant,p.Gly722Cys,ENST00000496613,;DENND2A,missense_variant,p.Gly722Cys,ENST00000537639,NM_015689.3;DENND2A,missense_variant,p.Gly69Cys,ENST00000469373,;DENND2A,missense_variant,p.Gly722Cys,ENST00000461883,;							MODERATE	2164/3030	G722C	DEN2A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000275884		CCDS43659.1			1	
OPCML	0	LGGM	GRCh37	11	132306667	132306667	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	3	.	.	ENST00000331898.7:c.671C>T	p.Pro224Leu	p.P224L	ENST00000331898	NM_002545.3	224	cCc/cTc	0	1	1	UPI0000055AE0	0	getma.org/pdb.php?prot=OPCM_HUMAN&from=223&to=312&var=P224L	ENST00000331898		ENSG00000183715	8143		22	4.145		HGNC	p.P224L		OPCML		SNV			1				ENST00000541867	protein_coding	getma.org/?cm=var&var=hg19,11,132306667,G,A&fts=all		Superfamily_domains:SSF48726,hmmpanther:PTHR19831:SF14,hmmpanther:PTHR19831,PROSITE_profiles:PS50835		P/L		A	high	1250/6833		getma.org/?cm=msa&ty=f&p=OPCM_HUMAN&rb=223&re=312&var=P224L	deleterious(0)	B7ZLQ0_HUMAN,B2CZX3_HUMAN,A8K0Y0_HUMAN			YES	OPCML,missense_variant,p.Pro224Leu,ENST00000331898,NM_002545.3;OPCML,missense_variant,p.Pro217Leu,ENST00000524381,NM_001012393.1;OPCML,missense_variant,p.Pro183Leu,ENST00000374778,;OPCML,missense_variant,p.Pro224Leu,ENST00000541867,;OPCML,non_coding_transcript_exon_variant,,ENST00000529038,;							MODERATE	671/1038	P224L	OPCM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330862		CCDS8492.1			1	
TDRD10	0	LGGM	GRCh37	1	154517297	154517297	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	3	.	.	ENST00000368480.3:c.824C>T	p.Thr275Ile	p.T275I	ENST00000368480		275	aCc/aTc	0	1	1	UPI0001533DB6	0	NA	ENST00000368480		ENSG00000163239	25316		33	0		HGNC	p.T275I		TDRD10		SNV							ENST00000368480	protein_coding	getma.org/?cm=var&var=hg19,1,154517297,C,T&fts=all		hmmpanther:PTHR22948:SF12,hmmpanther:PTHR22948,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748		T/I		T	neutral	909/1776		getma.org/?cm=msa&ty=f&p=TDR10_HUMAN&rb=195&re=317&var=T275I	deleterious(0.05)				YES	TDRD10,missense_variant,p.Thr275Ile,ENST00000368482,NM_182499.3,NM_001098475.1;TDRD10,missense_variant,p.Thr275Ile,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,;							MODERATE	824/1101	T275I	TDR10_HUMAN			Transcript		benign(0.417)	.	ENSP00000357465		CCDS41406.1			1	
ALOX12B	0	LGGM	GRCh37	17	7980416	7980416	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	3	.	.	ENST00000319144.4:c.1167G>C	p.Glu389Asp	p.E389D	ENST00000319144	NM_001139.2	389	gaG/gaC	0	1	1	UPI000000D996	0	getma.org/pdb.php?prot=LX12B_HUMAN&from=224&to=693&var=E389D	ENST00000319144		ENSG00000179477	430		10	0.065		HGNC	p.E389D		ALOX12B		SNV			1				ENST00000319144	protein_coding	getma.org/?cm=var&var=hg19,17,7980416,C,G&fts=all		PROSITE_profiles:PS51393,hmmpanther:PTHR11771:SF41,hmmpanther:PTHR11771,Pfam_domain:PF00305,Gene3D:3.10.450.60,Superfamily_domains:SSF48484,Prints_domain:PR00087		E/D		G	neutral	1428/2502		getma.org/?cm=msa&ty=f&p=LX12B_HUMAN&rb=224&re=693&var=E389D	tolerated(0.24)				YES	ALOX12B,missense_variant,p.Glu389Asp,ENST00000319144,NM_001139.2;AC129492.6,upstream_gene_variant,,ENST00000399413,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000577351,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000583276,;ALOX12B,non_coding_transcript_exon_variant,,ENST00000584116,;							MODERATE	1167/2106	E389D	LX12B_HUMAN			Transcript		benign(0.333)	.	ENSP00000315167		CCDS11129.1			1	
CDKN1A	0	LGGM	GRCh37	6	36651879	36651879	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	3	.	.	ENST00000244741.5:c.1A>G	p.Met1?	p.M1?	ENST00000244741	NM_000389.4	1	Atg/Gtg	0	1		UPI0000048F7B	0	NA	ENST00000244741		ENSG00000124762	1784		9	0		HGNC	p.M1V		CDKN1A		SNV			1				ENST00000244741	protein_coding	getma.org/?cm=var&var=hg19,6,36651879,A,G&fts=all		hmmpanther:PTHR10265:SF16,hmmpanther:PTHR10265		M/V		G	NA	147/2180		http://getma.org/?cm=msa&ty=f&p=CDN1A_HUMAN&rb=1&re=48&var=M1V	deleterious_low_confidence(0)					CDKN1A,start_lost,p.Met1?,ENST00000405375,NM_001220778.1;CDKN1A,start_lost,p.Met1?,ENST00000244741,NM_000389.4,NM_001220777.1,NM_078467.2;CDKN1A,start_lost,p.Met1?,ENST00000373711,;CDKN1A,missense_variant,p.Met35Val,ENST00000448526,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000478800,;CDKN1A,non_coding_transcript_exon_variant,,ENST00000459970,;CDKN1A,downstream_gene_variant,,ENST00000462537,;							HIGH	1/495	M1V	CDN1A_HUMAN			Transcript		probably_damaging(0.937)	.	ENSP00000244741		CCDS4824.1			1	
KIAA1432	0	LGGM	GRCh37	9	5742981	5742981	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	3	.	.	ENST00000414202.2:c.1014A>G	p.Ala338=	p.A338=	ENST00000414202	NM_001206557.1	338	gcA/gcG	0	1	1	UPI00002110DE	0		ENST00000414202		ENSG00000107036	17686		43			HGNC	p.A259A		KIAA1432		SNV							ENST00000449720	protein_coding			hmmpanther:PTHR22746,hmmpanther:PTHR22746:SF10,Gene3D:2.130.10.10,Superfamily_domains:SSF50978		A		G		1205/6774							YES	KIAA1432,synonymous_variant,p.=,ENST00000414202,NM_001206557.1,NM_020829.3;KIAA1432,synonymous_variant,p.=,ENST00000418622,;KIAA1432,synonymous_variant,p.=,ENST00000251879,NM_001135920.2;KIAA1432,synonymous_variant,p.=,ENST00000449720,;KIAA1432,synonymous_variant,p.=,ENST00000545641,;KIAA1432,synonymous_variant,p.=,ENST00000381532,;KIAA1432,non_coding_transcript_exon_variant,,ENST00000276898,;							LOW	1014/4272		RIC1_HUMAN			Transcript			.	ENSP00000416696		CCDS34982.2			1	
PARS2	0	LGGM	GRCh37	1	55224654	55224654	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	3	.	.	ENST00000371279.3:c.181G>A	p.Asp61Asn	p.D61N	ENST00000371279	NM_152268.3	61	Gac/Aac	0	1	1	UPI00000492D2	0	NA	ENST00000371279		ENSG00000162396	30563		15	1.1		HGNC	p.D61N		PARS2		SNV							ENST00000371279	protein_coding	getma.org/?cm=var&var=hg19,1,55224654,C,T&fts=all		PROSITE_profiles:PS50862,hmmpanther:PTHR11451,hmmpanther:PTHR11451:SF3		D/N		T	low	264/2347		getma.org/?cm=msa&ty=f&p=SYPM_HUMAN&rb=1&re=96&var=D61N	tolerated(0.14)				YES	PARS2,missense_variant,p.Asp61Asn,ENST00000371279,NM_152268.3;							MODERATE	181/1428	D61N	SYPM_HUMAN			Transcript		benign(0.008)	.	ENSP00000360327		CCDS597.1			1	
MEI1	0	LGGM	GRCh37	22	42191819	42191819	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	3	.	.	ENST00000401548.3:c.3747C>T	p.Thr1249=	p.T1249=	ENST00000401548	NM_152513.3	1249	acC/acT	0	1	1	UPI00006E232C	0		ENST00000401548		ENSG00000167077	28613		33			HGNC	p.T213T	rs781671730	MEI1		SNV							ENST00000300398	protein_coding			hmmpanther:PTHR12044,hmmpanther:PTHR12044:SF10		T		T		3787/4020	1.50E-05						YES	MEI1,synonymous_variant,p.=,ENST00000401548,NM_152513.3;MEI1,synonymous_variant,p.=,ENST00000400107,;MEI1,synonymous_variant,p.=,ENST00000300398,;MEI1,synonymous_variant,p.=,ENST00000403492,;MEI1,synonymous_variant,p.=,ENST00000423900,;CCDC134,upstream_gene_variant,,ENST00000255784,NM_024821.2;CCDC134,upstream_gene_variant,,ENST00000402061,;MEI1,non_coding_transcript_exon_variant,,ENST00000476893,;MEI1,non_coding_transcript_exon_variant,,ENST00000487535,;MEI1,downstream_gene_variant,,ENST00000484966,;							LOW	3747/3825		MEI1_HUMAN			Transcript			.	ENSP00000384115	8.27E-06	CCDS46718.1			1	
KIAA0226	0	LGGM	GRCh37	3	197402018	197402018	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	3	.	.	ENST00000296343.5:c.2790G>A	p.Pro930=	p.P930=	ENST00000296343	NM_014687.1	930	ccG/ccA	0	1	1	UPI00001C1DE4	0		ENST00000296343		ENSG00000145016	28991		18			HGNC	p.P930P	rs575102841,COSM4116500,COSM4116501	KIAA0226	6.06E-05	SNV			1			0,1,1	ENST00000296343	protein_coding			Pfam_domain:PF13901,hmmpanther:PTHR12326,hmmpanther:PTHR12326:SF7		P		T		2790/2919	4.64E-05			B4DIJ0_HUMAN			YES	KIAA0226,synonymous_variant,p.=,ENST00000273582,NM_001145642.2;KIAA0226,synonymous_variant,p.=,ENST00000413360,;KIAA0226,synonymous_variant,p.=,ENST00000296343,NM_014687.1;KIAA0226,downstream_gene_variant,,ENST00000389665,;KIAA0226,downstream_gene_variant,,ENST00000415452,;MIR922,upstream_gene_variant,,ENST00000401223,;					0,1,1		LOW	2790/2919		RUBIC_HUMAN			Transcript			.	ENSP00000296343	3.31E-05	CCDS43195.1			1	
ASTN1	0	LGGM	GRCh37	1	177133778	177133778	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	3	.	.	ENST00000361833.2:c.35G>T	p.Cys12Phe	p.C12F	ENST00000361833		12	tGc/tTc	0	1	1	UPI0000160388	0	NA	ENST00000361833		ENSG00000152092	773		8	0.69		HGNC	p.C12F		ASTN1		SNV							ENST00000367654	protein_coding	getma.org/?cm=var&var=hg19,1,177133778,C,A&fts=all		hmmpanther:PTHR16592,hmmpanther:PTHR16592:SF8,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		C/F		A	neutral	49/7116		getma.org/?cm=msa&ty=f&p=B4DHI9_HUMAN&rb=1&re=200&var=C12F	deleterious_low_confidence(0.02)	Q96BL7_HUMAN			YES	ASTN1,missense_variant,p.Cys12Phe,ENST00000367654,NM_004319.1;ASTN1,missense_variant,p.Cys12Phe,ENST00000361833,;ASTN1,missense_variant,p.Cys12Phe,ENST00000367657,NM_001286164.1;ASTN1,missense_variant,p.Cys12Phe,ENST00000424564,NM_207108.1;ASTN1,non_coding_transcript_exon_variant,,ENST00000281881,;							MODERATE	35/3885	C12F	ASTN1_HUMAN			Transcript		unknown(0)	.	ENSP00000354536		CCDS1319.1			1	
MED9	0	LGGM	GRCh37	17	17380370	17380370	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	3	.	.	ENST00000268711.3:c.15G>T	p.Gly5=	p.G5=	ENST00000268711	NM_018019.2	5	ggG/ggT	0	1	1	UPI000006F39B	0		ENST00000268711		ENSG00000141026	25487		23			HGNC	p.G5G	rs778963066	MED9		SNV				0.000117			ENST00000268711	protein_coding			hmmpanther:PTHR20844		G		T		71/2228	1.64E-05						YES	MED9,synonymous_variant,p.=,ENST00000268711,NM_018019.2;MED9,synonymous_variant,p.=,ENST00000580462,;MED9,non_coding_transcript_exon_variant,,ENST00000585041,;MED9,synonymous_variant,p.=,ENST00000581315,;							LOW	15/441		MED9_HUMAN			Transcript			.	ENSP00000268711	1.66E-05	CCDS11184.1			1	
COL5A1	0	LGGM	GRCh37	9	137704330	137704330	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	3	.	.	ENST00000371817.3:c.3726A>T	p.Thr1242=	p.T1242=	ENST00000371817	NM_001278074.1	1242	acA/acT	0	1	1	UPI0000210EE3	0		ENST00000371817		ENSG00000130635	2209		17			HGNC	p.T1242T		COL5A1		SNV			1				ENST00000371817	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR24023:SF387,hmmpanther:PTHR24023		T		T		4140/8468				Q9UML4_HUMAN,Q96HC0_HUMAN,Q59EE7_HUMAN			YES	COL5A1,synonymous_variant,p.=,ENST00000371817,NM_001278074.1,NM_000093.4;COL5A1,downstream_gene_variant,,ENST00000463925,;							LOW	3726/5517		CO5A1_HUMAN			Transcript			.	ENSP00000360882		CCDS6982.1			1	
TARDBP	0	LGGM	GRCh37	1	11073895	11073895	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	3	.	.	ENST00000240185.3:c.111G>A	p.Gly37=	p.G37=	ENST00000240185	NM_007375.3	37	ggG/ggA	0	1	1	UPI0000136B42	0		ENST00000240185		ENSG00000120948	11571		22			HGNC	p.G37G		TARDBP		SNV			1				ENST00000315091	protein_coding			hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF67		G		A		225/2748				K7EJM5_HUMAN			YES	TARDBP,synonymous_variant,p.=,ENST00000240185,NM_007375.3;TARDBP,synonymous_variant,p.=,ENST00000315091,;TARDBP,synonymous_variant,p.=,ENST00000476201,;TARDBP,synonymous_variant,p.=,ENST00000473118,;TARDBP,5_prime_UTR_variant,,ENST00000439080,;TARDBP,synonymous_variant,p.=,ENST00000473869,;TARDBP,synonymous_variant,p.=,ENST00000472476,;							LOW	111/1245		TADBP_HUMAN			Transcript			.	ENSP00000240185		CCDS122.1			1	
CAMK1D	0	LGGM	GRCh37	10	12803004	12803004	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	3	.	.	ENST00000378847.3:c.357G>T	p.Lys119Asn	p.K119N	ENST00000378847	NM_153498.2	119	aaG/aaT	0	1	1	UPI000003CA33	0	getma.org/pdb.php?prot=KCC1D_HUMAN&from=23&to=279&var=K119N	ENST00000378847		ENSG00000183049	19341		36	0.06		HGNC	p.K119N		CAMK1D		SNV							ENST00000378847	protein_coding	getma.org/?cm=var&var=hg19,10,12803004,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24347:SF116,hmmpanther:PTHR24347,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		K/N		T	neutral	694/8154		getma.org/?cm=msa&ty=f&p=KCC1D_HUMAN&rb=23&re=279&var=K119N	deleterious(0)				YES	CAMK1D,missense_variant,p.Lys119Asn,ENST00000378847,NM_153498.2;CAMK1D,missense_variant,p.Lys119Asn,ENST00000378845,NM_020397.2;							MODERATE	357/1158	K119N	KCC1D_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000368124		CCDS7091.1			1	
PLAGL1	0	LGGM	GRCh37	6	144263525	144263525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	3	.	.	ENST00000360537.2:c.428C>T	p.Ala143Val	p.A143V	ENST00000360537		143	gCg/gTg	0	1		UPI000006F274	0	getma.org/pdb.php?prot=PLAL1_HUMAN&from=74&to=155&var=A143V	ENST00000354765		ENSG00000118495	9046		28	1.24		HGNC	p.A143V		PLAGL1		SNV			1				ENST00000392309	protein_coding	getma.org/?cm=var&var=hg19,6,144263525,G,A&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR10032:SF125,hmmpanther:PTHR10032		A/V		A	low	1260/3346		getma.org/?cm=msa&ty=f&p=PLAL1_HUMAN&rb=74&re=155&var=A143V	deleterious(0)	Q68DN7_HUMAN,Q5TFH3_HUMAN,A1YLA1_HUMAN				PLAGL1,missense_variant,p.Ala143Val,ENST00000360537,;PLAGL1,missense_variant,p.Ala143Val,ENST00000429150,NM_001080952.1;PLAGL1,missense_variant,p.Ala143Val,ENST00000392309,NM_006718.3,NM_001080953.1;PLAGL1,missense_variant,p.Ala143Val,ENST00000416623,NM_001080954.1;PLAGL1,missense_variant,p.Ala143Val,ENST00000354765,;PLAGL1,missense_variant,p.Ala143Val,ENST00000444202,NM_001080951.1;PLAGL1,missense_variant,p.Ala91Val,ENST00000392307,NM_002656.3,NM_001080956.1;PLAGL1,missense_variant,p.Ala143Val,ENST00000367571,;PLAGL1,missense_variant,p.Ala91Val,ENST00000437412,NM_001080955.1;PLAGL1,missense_variant,p.Ala91Val,ENST00000367572,;PLAGL1,missense_variant,p.Ala91Val,ENST00000417959,;ZC2HC1B,downstream_gene_variant,,ENST00000237275,NM_001013623.2;ZC2HC1B,downstream_gene_variant,,ENST00000539295,;ZC2HC1B,downstream_gene_variant,,ENST00000454207,;							MODERATE	428/1392	A143V	PLAL1_HUMAN			Transcript		possibly_damaging(0.536)	.	ENSP00000346810		CCDS5202.1			1	
WDR81	0	LGGM	GRCh37	17	1631357	1631357	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	0	3	.	.	ENST00000409644.1:c.3104G>A	p.Gly1035Glu	p.G1035E	ENST00000409644	NM_001163809.1	1035	gGg/gAg	0	1	1	UPI0001881A85	0	NA	ENST00000409644		ENSG00000167716	26600		3	-1.1		HGNC	p.G1035E		WDR81		SNV			1				ENST00000409644	protein_coding	getma.org/?cm=var&var=hg19,17,1631357,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF314		G/E		A	neutral	3104/6733		getma.org/?cm=msa&ty=f&p=Q8TEL1_HUMAN&rb=1&re=273&var=G162E	tolerated(0.45)	E9PDG3_HUMAN,C9JD20_HUMAN			YES	WDR81,missense_variant,p.Gly1035Glu,ENST00000409644,NM_001163809.1;WDR81,5_prime_UTR_variant,,ENST00000309182,NM_152348.3;WDR81,intron_variant,,ENST00000419248,NM_001163811.1;WDR81,intron_variant,,ENST00000437219,NM_001163673.1;WDR81,intron_variant,,ENST00000446363,;WDR81,intron_variant,,ENST00000418841,;WDR81,intron_variant,,ENST00000455636,;WDR81,intron_variant,,ENST00000468539,;WDR81,upstream_gene_variant,,ENST00000545662,;WDR81,upstream_gene_variant,,ENST00000575206,;RP11-961A15.1,intron_variant,,ENST00000576540,;WDR81,non_coding_transcript_exon_variant,,ENST00000464528,;WDR81,intron_variant,,ENST00000492901,;WDR81,upstream_gene_variant,,ENST00000479966,;WDR81,upstream_gene_variant,,ENST00000474958,;WDR81,upstream_gene_variant,,ENST00000495411,;							MODERATE	3104/5826	G162E	WDR81_HUMAN			Transcript		benign(0.035)	.	ENSP00000386609		CCDS54062.1			1	
ABCA4	0	LGGM	GRCh37	1	94574167	94574167	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	3	.	.	ENST00000370225.3:c.408G>T	p.Met136Ile	p.M136I	ENST00000370225	NM_000350.2	136	atG/atT	0	1	1	UPI000012511C	0	NA	ENST00000370225		ENSG00000198691	34		48	1.73		HGNC	p.M136I		ABCA4		SNV			1				ENST00000370225	protein_coding	getma.org/?cm=var&var=hg19,1,94574167,C,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,TIGRFAM_domain:TIGR01257		M/I		A	low	495/7309		getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=1&re=200&var=M136I	tolerated(0.18)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN			YES	ABCA4,missense_variant,p.Met136Ile,ENST00000370225,NM_000350.2;ABCA4,missense_variant,p.Met136Ile,ENST00000535735,;							MODERATE	408/6822	M136I	ABCA4_HUMAN			Transcript		benign(0.059)	.	ENSP00000359245		CCDS747.1			1	
COL24A1	0	LGGM	GRCh37	1	86362091	86362091	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	3	.	.	ENST00000370571.2:c.2780G>C	p.Gly927Ala	p.G927A	ENST00000370571	NM_152890.5	927	gGa/gCa	0	1	1	UPI000013E81F	0	NA	ENST00000370571		ENSG00000171502	20821		35	3.595		HGNC	p.G927A		COL24A1		SNV							ENST00000370571	protein_coding	getma.org/?cm=var&var=hg19,1,86362091,C,G&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		G/A		G	high	3147/6825		getma.org/?cm=msa&ty=f&p=COOA1_HUMAN&rb=888&re=947&var=G927A	deleterious(0)	E9PNK8_HUMAN			YES	COL24A1,missense_variant,p.Gly927Ala,ENST00000370571,NM_152890.5;COL24A1,missense_variant,p.Gly927Ala,ENST00000436319,;COL24A1,splice_region_variant,,ENST00000426639,;							MODERATE	2780/5145	G927A	COOA1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000359603		CCDS41353.1			1	
OTOG	0	LGGM	GRCh37	11	17667483	17667483	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	3	.	.	ENST00000399391.2:c.8770T>A	p.Trp2924Arg	p.W2924R	ENST00000399391	NM_001277269.1	2924	Tgg/Agg	0	1	1	UPI0001662628	0	NA	ENST00000399391		ENSG00000188162	8516		18	2.085		HGNC	p.W2851R		OTOG		SNV			1				ENST00000399397	protein_coding	getma.org/?cm=var&var=hg19,11,17667483,T,A&fts=all		PROSITE_profiles:PS01225,hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,SMART_domains:SM00041		W/R		A	medium	8770/8778		getma.org/?cm=msa&ty=f&p=OTOG_HUMAN&rb=2840&re=2925&var=W2924R		H9KVB3_HUMAN			YES	OTOG,missense_variant,p.Trp2851Arg,ENST00000399397,;OTOG,missense_variant,p.Trp2924Arg,ENST00000399391,NM_001277269.1;							MODERATE	8770/8778	W2924R	OTOG_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000382323		CCDS59225.1			1	
NFKB1	0	LGGM	GRCh37	4	103514719	103514719	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	3	.	.	ENST00000226574.4:c.1204G>T	p.Gly402Cys	p.G402C	ENST00000226574	NM_003998.3	402	Ggt/Tgt	0	1		UPI000000D917	0	NA	ENST00000394820		ENSG00000109320	7794		43	1.59		HGNC	p.G401C		NFKB1		SNV							ENST00000505458	protein_coding	getma.org/?cm=var&var=hg19,4,103514719,G,T&fts=all		hmmpanther:PTHR24169,hmmpanther:PTHR24169:SF9,Low_complexity_(Seg):seg		G/C		T	low	1666/3693		getma.org/?cm=msa&ty=f&p=NFKB1_HUMAN&rb=243&re=442&var=G401C	deleterious(0.04)	D6RF93_HUMAN				NFKB1,missense_variant,p.Gly402Cys,ENST00000226574,NM_003998.3,NM_001165412.1;NFKB1,missense_variant,p.Gly221Cys,ENST00000600343,;NFKB1,missense_variant,p.Gly401Cys,ENST00000505458,;NFKB1,missense_variant,p.Gly401Cys,ENST00000394820,;NFKB1,missense_variant,p.Gly195Cys,ENST00000508584,;NFKB1,non_coding_transcript_exon_variant,,ENST00000504044,;							MODERATE	1201/2907	G401C	NFKB1_HUMAN			Transcript		possibly_damaging(0.838)	.	ENSP00000378297		CCDS54783.1			1	
SLX4	0	LGGM	GRCh37	16	3632642	3632642	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	3	.	.	ENST00000294008.3:c.5206G>A	p.Gly1736Ser	p.G1736S	ENST00000294008	NM_032444.2	1736	Ggc/Agc	0	1	1	UPI000050D2C5	0	NA	ENST00000294008		ENSG00000188827	23845		19	0		HGNC	p.G1736S		SLX4		SNV			1				ENST00000294008	protein_coding	getma.org/?cm=var&var=hg19,16,3632642,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21541		G/S		T	neutral	5847/7307		getma.org/?cm=msa&ty=f&p=SLX4_HUMAN&rb=1594&re=1793&var=G1736S	tolerated(0.1)				YES	SLX4,missense_variant,p.Gly1736Ser,ENST00000294008,NM_032444.2;RP11-461A8.1,intron_variant,,ENST00000573982,;							MODERATE	5206/5505	G1736S	SLX4_HUMAN			Transcript		benign(0.021)	.	ENSP00000294008		CCDS10506.2			1	
LINC03042	0	LGGM	GRCh37	8	38369939	38369939	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	3	.	.	ENST00000358138.1:c.638G>T	p.Gly213Val	p.G213V	ENST00000358138	NM_207412.1	213	gGg/gTg	0	1	1	UPI00001C0B34	0	NA	ENST00000358138		ENSG00000196166	33774		42	0		HGNC	p.G213V	COSM1552711	C8orf86		SNV						1	ENST00000358138	protein_coding	getma.org/?cm=var&var=hg19,8,38369939,C,A&fts=all				G/V		A	neutral	663/2250		getma.org/?cm=msa&ty=f&p=CH086_HUMAN&rb=171&re=223&var=G213V	tolerated_low_confidence(0.16)				YES	C8orf86,missense_variant,p.Gly213Val,ENST00000358138,NM_207412.1;C8orf86,3_prime_UTR_variant,,ENST00000437935,;					1		MODERATE	638/672	G213V	CH086_HUMAN			Transcript		benign(0.105)	.	ENSP00000350856		CCDS6108.1			1	
FAP	0	LGGM	GRCh37	2	163099497	163099497	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	3	.	.	ENST00000188790.4:c.12G>T	p.Trp4Cys	p.W4C	ENST00000188790	NM_004460.2	4	tgG/tgT	0	1	1	UPI00000012A2	0	NA	ENST00000188790		ENSG00000078098	3590		21	1.445		HGNC	p.W4C		FAP		SNV							ENST00000188790	protein_coding	getma.org/?cm=var&var=hg19,2,163099497,C,A&fts=all		hmmpanther:PTHR11731,hmmpanther:PTHR11731:SF111		W/C		A	low	220/2780		getma.org/?cm=msa&ty=f&p=SEPR_HUMAN&rb=1&re=105&var=W4C	tolerated(0.19)	C9J131_HUMAN			YES	FAP,missense_variant,p.Trp4Cys,ENST00000188790,NM_004460.2;FAP,missense_variant,p.Trp4Cys,ENST00000443424,;FAP,5_prime_UTR_variant,,ENST00000447386,;FAP,downstream_gene_variant,,ENST00000493182,;FAP,5_prime_UTR_variant,,ENST00000450031,;FAP,non_coding_transcript_exon_variant,,ENST00000480838,;							MODERATE	Dec-83	W4C	SEPR_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000188790		CCDS33311.1			1	
DOCK8	0	LGGM	GRCh37	9	286488	286488	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	3	.	.	ENST00000453981.1:c.184G>A	p.Val62Met	p.V62M	ENST00000453981		62	Gtg/Atg	0	1		UPI000034ECCE	0	NA	ENST00000432829		ENSG00000107099	19191		17	1.845		HGNC	p.V62M		DOCK8		SNV			1				ENST00000453981	protein_coding	getma.org/?cm=var&var=hg19,9,286488,G,A&fts=all						A	low	296/7452		getma.org/?cm=msa&ty=f&p=DOCK8_HUMAN&rb=1&re=68&var=V62M		E2J6M5_HUMAN,C9J7A3_HUMAN,C9J613_HUMAN				DOCK8,missense_variant,p.Val62Met,ENST00000453981,;DOCK8,5_prime_UTR_variant,,ENST00000432829,NM_203447.3;DOCK8,5_prime_UTR_variant,,ENST00000469391,NM_001190458.1,NM_001193536.1;DOCK8,5_prime_UTR_variant,,ENST00000479404,;DOCK8,5_prime_UTR_variant,,ENST00000487230,;DOCK8,5_prime_UTR_variant,,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,;							MODIFIER	-/6096	V62M	DOCK8_HUMAN			Transcript			.	ENSP00000394888		CCDS55283.1			1	
HFE	0	LGGM	GRCh37	6	26091098	26091098	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	3	.	.	ENST00000357618.5:c.106G>T	p.Gly36Cys	p.G36C	ENST00000357618	NM_000410.3	36	Ggt/Tgt	0	1	1	UPI0000001700	0	getma.org/pdb.php?prot=HFE_HUMAN&from=26&to=202&var=G36C	ENST00000357618		ENSG00000010704	4886		42	2.395		HGNC	p.G36C		HFE		SNV			1				ENST00000461397	protein_coding	getma.org/?cm=var&var=hg19,6,26091098,G,T&fts=all		Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF139,Superfamily_domains:SSF54452		G/C		T	medium	228/5286		getma.org/?cm=msa&ty=f&p=HFE_HUMAN&rb=26&re=202&var=G36C	tolerated(0.21)	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			YES	HFE,missense_variant,p.Gly36Cys,ENST00000357618,NM_000410.3,NM_139006.2;HFE,missense_variant,p.Gly36Cys,ENST00000317896,NM_139004.2,NM_139003.2;HFE,missense_variant,p.Gly36Cys,ENST00000309234,;HFE,missense_variant,p.Gly36Cys,ENST00000470149,;HFE,missense_variant,p.Gly36Cys,ENST00000461397,;HFE,missense_variant,p.Gly36Cys,ENST00000336625,;HFE,intron_variant,,ENST00000349999,NM_139008.2,NM_139007.2;HFE,intron_variant,,ENST00000397022,NM_139009.2;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,;							MODERATE	106/1047	G36C	HFE_HUMAN			Transcript		possibly_damaging(0.854)	.	ENSP00000417404		CCDS4578.1			1	
CLLU1	0	LGGM	GRCh37	12	92818579	92818579	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	3	.	.	ENST00000378485.1:c.123C>A	p.Asn41Lys	p.N41K	ENST00000378485	NM_001025233.1	41	aaC/aaA	0	1	1	UPI00004A1179	0	NA	ENST00000378485		ENSG00000257127	29841		33	0		HGNC	p.N41K		CLLU1		SNV							ENST00000378485	protein_coding	getma.org/?cm=var&var=hg19,12,92818579,C,A&fts=all				N/K		A	neutral	845/3897		getma.org/?cm=msa&ty=f&p=CLLU1_HUMAN&rb=1&re=121&var=N41K					YES	CLLU1,missense_variant,p.Asn41Lys,ENST00000378485,NM_001025233.1;CLLU1OS,intron_variant,,ENST00000378487,NM_001025232.1;CLLU1OS,intron_variant,,ENST00000538965,;RP11-693J15.4,intron_variant,,ENST00000508671,;CLLU1,intron_variant,,ENST00000472839,;CLLU1,intron_variant,,ENST00000512817,;CLLU1,non_coding_transcript_exon_variant,,ENST00000586526,;CLLU1,downstream_gene_variant,,ENST00000589406,;							MODERATE	123/366	N41K	CLLU1_HUMAN			Transcript		unknown(0)	.	ENSP00000367746					1	
ERCC6L2	0	LGGM	GRCh37	9	98643493	98643493	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	3	.	.	ENST00000288985.7:c.422G>A	p.Gly141Glu	p.G141E	ENST00000288985	NM_001010895.2	141	gGa/gAa	0	1	1	UPI000046FE3C	0	getma.org/pdb.php?prot=RAD26_HUMAN&from=137&to=473&var=G141E	ENST00000288985		ENSG00000182150	26922		32	4.145		HGNC	p.G141E		ERCC6L2		SNV			1				ENST00000288985	protein_coding	getma.org/?cm=var&var=hg19,9,98643493,G,A&fts=all		hmmpanther:PTHR10799:SF65,hmmpanther:PTHR10799,Gene3D:3.40.50.300,Pfam_domain:PF00176,SMART_domains:SM00487,Superfamily_domains:SSF52540		G/E		A	high	727/4564		getma.org/?cm=msa&ty=f&p=RAD26_HUMAN&rb=137&re=473&var=G141E	deleterious(0)				YES	ERCC6L2,missense_variant,p.Gly141Glu,ENST00000288985,NM_001010895.2;ERCC6L2,non_coding_transcript_exon_variant,,ENST00000466840,;							MODERATE	422/2139	G141E	RAD26_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000288985		CCDS35072.1			1	
RBFOX2	0	LGGM	GRCh37	22	36156052	36156052	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	3	.	.	ENST00000438146.2:c.992A>G	p.Tyr331Cys	p.Y331C	ENST00000438146	NM_001082578.1	331	tAc/tGc	0	1	1	UPI00015DF7D4	0	NA	ENST00000438146		ENSG00000100320	9906		21	2.045		HGNC	p.Y237C		RBFOX2		SNV							ENST00000397303	protein_coding	getma.org/?cm=var&var=hg19,22,36156052,T,C&fts=all		hmmpanther:PTHR15597,hmmpanther:PTHR15597:SF24,Pfam_domain:PF12414,PIRSF_domain:PIRSF037932		Y/C		C	medium	992/1356		getma.org/?cm=msa&ty=f&p=RFOX2_HUMAN&rb=264&re=362&var=Y270C					YES	RBFOX2,missense_variant,p.Tyr257Cys,ENST00000405409,NM_014309.2,NM_001031695.2,NM_001082577.1,NM_001082576.1;RBFOX2,missense_variant,p.Tyr260Cys,ENST00000449924,;RBFOX2,missense_variant,p.Tyr260Cys,ENST00000414461,;RBFOX2,missense_variant,p.Tyr238Cys,ENST00000262829,;RBFOX2,missense_variant,p.Tyr236Cys,ENST00000359369,;RBFOX2,missense_variant,p.Tyr331Cys,ENST00000438146,NM_001082578.1,NM_001082579.1;RBFOX2,missense_variant,p.Tyr237Cys,ENST00000397303,;RBFOX2,missense_variant,p.Tyr256Cys,ENST00000416721,;RBFOX2,missense_variant,p.Tyr109Cys,ENST00000495377,;RBFOX2,downstream_gene_variant,,ENST00000473487,;							MODERATE	992/1356	Y270C	RFOX2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000413035		CCDS43013.1			1	
SACS	0	LGGM	GRCh37	13	23908234	23908234	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	3	.	.	ENST00000382298.3:c.9781C>T	p.Gln3261Ter	p.Q3261*	ENST00000382298	NM_014363.5	3261	Cag/Tag	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		37	0		HGNC	p.Q3261X		SACS		SNV			1				ENST00000382292	protein_coding	getma.org/?cm=var&var=hg19,13,23908234,G,A&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		Q/*		A	NA	10055/15324		NA						SACS,stop_gained,p.Gln3261Ter,ENST00000382298,NM_014363.5;SACS,stop_gained,p.Gln3261Ter,ENST00000382292,;SACS,stop_gained,p.Gln2511Ter,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							HIGH	9781/13740	Q3261*	SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
LRTM1	0	LGGM	GRCh37	3	54952909	54952909	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000273286.5:c.615A>T	p.Thr205=	p.T205=	ENST00000273286	NM_020678.2	205	acA/acT	0	1	1	UPI000006CEEC	0		ENST00000273286		ENSG00000144771	25023		13			HGNC	p.T129T		LRTM1		SNV							ENST00000493075	protein_coding			Superfamily_domains:SSF52058,SMART_domains:SM00082,Gene3D:3.80.10.10,hmmpanther:PTHR24369:SF18,hmmpanther:PTHR24369		T		A		778/1423							YES	LRTM1,synonymous_variant,p.=,ENST00000273286,NM_020678.2;LRTM1,synonymous_variant,p.=,ENST00000493075,;CACNA2D3,intron_variant,,ENST00000474759,NM_018398.2;CACNA2D3,intron_variant,,ENST00000288197,;CACNA2D3,intron_variant,,ENST00000415676,;CACNA2D3,intron_variant,,ENST00000490478,;CACNA2D3,intron_variant,,ENST00000471363,;							LOW	615/1038		LRTM1_HUMAN			Transcript			.	ENSP00000273286		CCDS2876.1			1	
MUL1	0	LGGM	GRCh37	1	20827817	20827817	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	3	.	.	ENST00000264198.3:c.425T>G	p.Leu142Arg	p.L142R	ENST00000264198	NM_024544.2	142	cTg/cGg	0	1	1	UPI00000361FC	0	NA	ENST00000264198		ENSG00000090432	25762		45	1.7		HGNC	p.L142R		MUL1		SNV							ENST00000264198	protein_coding	getma.org/?cm=var&var=hg19,1,20827817,A,C&fts=all		Pfam_domain:PF12483,hmmpanther:PTHR12183,hmmpanther:PTHR12183:SF4		L/R		C	low	562/2436		getma.org/?cm=msa&ty=f&p=MUL1_HUMAN&rb=95&re=257&var=L142R	deleterious(0.01)	B7Z8S4_HUMAN			YES	MUL1,missense_variant,p.Leu142Arg,ENST00000264198,NM_024544.2;							MODERATE	425/1059	L142R	MUL1_HUMAN			Transcript		possibly_damaging(0.903)	.	ENSP00000264198		CCDS208.1			1	
TUBGCP3	0	LGGM	GRCh37	13	113202062	113202062	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	3	.	.	ENST00000261965.3:c.1040A>T	p.Gln347Leu	p.Q347L	ENST00000261965	NM_006322.4	347	cAa/cTa	0	1	1	UPI000000DB88	0	getma.org/pdb.php?prot=GCP3_HUMAN&from=253&to=763&var=Q347L	ENST00000261965		ENSG00000126216	18598		17	1.73		HGNC	p.Q347L	COSM1747341	TUBGCP3		SNV						1	ENST00000375669	protein_coding	getma.org/?cm=var&var=hg19,13,113202062,T,A&fts=all		Pfam_domain:PF04130,hmmpanther:PTHR19302,hmmpanther:PTHR19302:SF14		Q/L		A	low	1227/3893		getma.org/?cm=msa&ty=f&p=GCP3_HUMAN&rb=253&re=763&var=Q347L	tolerated(0.17)				YES	TUBGCP3,missense_variant,p.Gln347Leu,ENST00000261965,NM_006322.4;TUBGCP3,missense_variant,p.Gln347Leu,ENST00000375669,NM_001286278.1;TUBGCP3,upstream_gene_variant,,ENST00000462580,;TUBGCP3,non_coding_transcript_exon_variant,,ENST00000464139,;					1		MODERATE	1040/2724	Q347L	GCP3_HUMAN			Transcript		benign(0.009)	.	ENSP00000261965		CCDS9525.1			1	
SH3TC2	0	LGGM	GRCh37	5	148386506	148386506	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	3	.	.	ENST00000515425.1:c.3613G>A	p.Glu1205Lys	p.E1205K	ENST00000515425	NM_024577.3	1205	Gag/Aag	0	1	1	UPI00001DFBEE	0	NA	ENST00000515425		ENSG00000169247	29427		28	1.73		HGNC	p.E1205K		SH3TC2		SNV			1				ENST00000504690	protein_coding	getma.org/?cm=var&var=hg19,5,148386506,C,T&fts=all		Superfamily_domains:SSF48452,Gene3D:1.25.40.10,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2		E/K		T	low	3715/4059		getma.org/?cm=msa&ty=f&p=S3TC2_HUMAN&rb=1198&re=1288&var=E1205K	deleterious(0.03)	B3KXB9_HUMAN			YES	SH3TC2,missense_variant,p.Glu1205Lys,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Glu1198Lys,ENST00000512049,;SH3TC2,missense_variant,p.Glu67Lys,ENST00000502274,;SH3TC2,3_prime_UTR_variant,,ENST00000538184,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000515229,;SH3TC2,non_coding_transcript_exon_variant,,ENST00000510350,;SH3TC2,missense_variant,p.Glu1205Lys,ENST00000504690,;SH3TC2,3_prime_UTR_variant,,ENST00000323829,;SH3TC2,3_prime_UTR_variant,,ENST00000504517,;SH3TC2,3_prime_UTR_variant,,ENST00000510779,;							MODERATE	3613/3867	E1205K	S3TC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000423660		CCDS4293.1			1	
RADIL	0	LGGM	GRCh37	7	4845275	4845275	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	3	.	.	ENST00000399583.3:c.2212T>A	p.Tyr738Asn	p.Y738N	ENST00000399583	NM_018059.4	738	Tac/Aac	0	1	1	UPI0000E0A787	0	getma.org/pdb.php?prot=RADIL_HUMAN&from=635&to=744&var=Y738N	ENST00000399583		ENSG00000157927	22226		13	2.34		HGNC	p.Y738N		RADIL		SNV							ENST00000399583	protein_coding	getma.org/?cm=var&var=hg19,7,4845275,A,T&fts=all		Pfam_domain:PF01843,PROSITE_profiles:PS51126,hmmpanther:PTHR16027,hmmpanther:PTHR16027:SF3		Y/N		T	medium	2400/3689		getma.org/?cm=msa&ty=f&p=RADIL_HUMAN&rb=635&re=744&var=Y738N	deleterious(0.05)	F5H6X3_HUMAN,C9J7G0_HUMAN			YES	RADIL,missense_variant,p.Tyr738Asn,ENST00000399583,NM_018059.4;RADIL,missense_variant,p.Tyr498Asn,ENST00000538469,;RADIL,3_prime_UTR_variant,,ENST00000536091,;RADIL,3_prime_UTR_variant,,ENST00000445392,;RADIL,non_coding_transcript_exon_variant,,ENST00000473130,;RADIL,non_coding_transcript_exon_variant,,ENST00000469399,;RADIL,upstream_gene_variant,,ENST00000472999,;							MODERATE	2212/3228	Y738N	RADIL_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000382492		CCDS43544.1			1	
ILDR2	0	LGGM	GRCh37	1	166904631	166904631	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	3	.	.	ENST00000271417.3:c.787C>T	p.Pro263Ser	p.P263S	ENST00000271417	NM_199351.2	263	Cct/Tct	0	1	1	UPI00002317DF	0	NA	ENST00000271417		ENSG00000143195	18131		26	2.135		HGNC	p.P263S		ILDR2		SNV							ENST00000271417	protein_coding	getma.org/?cm=var&var=hg19,1,166904631,G,A&fts=all		hmmpanther:PTHR15923,hmmpanther:PTHR15923:SF0,Low_complexity_(Seg):seg		P/S		A	medium	843/8125		getma.org/?cm=msa&ty=f&p=ILDR2_HUMAN&rb=235&re=434&var=P263S	tolerated(0.08)				YES	ILDR2,missense_variant,p.Pro263Ser,ENST00000271417,NM_199351.2;ILDR2,missense_variant,p.Pro244Ser,ENST00000529071,;ILDR2,missense_variant,p.Pro263Ser,ENST00000469934,;ILDR2,intron_variant,,ENST00000528703,;ILDR2,intron_variant,,ENST00000526687,;ILDR2,intron_variant,,ENST00000525740,;ILDR2,intron_variant,,ENST00000529387,;							MODERATE	787/1920	P263S	ILDR2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000271417		CCDS1256.1			1	
ARMC5	0	LGGM	GRCh37	16	31473503	31473503	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	3	.	.	ENST00000268314.4:c.635G>A	p.Cys212Tyr	p.C212Y	ENST00000268314	NM_001105247.1	212	tGc/tAc	0	1	1	UPI0000F6E6C0	0	NA	ENST00000268314		ENSG00000140691	25781		30	1.59		HGNC	p.C48Y		ARMC5		SNV			1				ENST00000412665	protein_coding	getma.org/?cm=var&var=hg19,16,31473503,G,A&fts=all		Superfamily_domains:SSF48371,SMART_domains:SM00185,Gene3D:1.25.10.10,hmmpanther:PTHR23312,PROSITE_profiles:PS50176		C/Y		A	low	1164/3612		getma.org/?cm=msa&ty=f&p=ARMC5_HUMAN&rb=201&re=400&var=C212Y	deleterious(0)				YES	ARMC5,missense_variant,p.Cys212Tyr,ENST00000457010,NM_024742.2;ARMC5,missense_variant,p.Cys307Tyr,ENST00000408912,NM_001288767.1;ARMC5,missense_variant,p.Cys212Tyr,ENST00000268314,NM_001105247.1;ARMC5,missense_variant,p.Cys212Tyr,ENST00000563544,;ARMC5,missense_variant,p.Cys244Tyr,ENST00000538189,;ARMC5,missense_variant,p.Cys67Tyr,ENST00000564900,;ARMC5,missense_variant,p.Cys48Tyr,ENST00000412665,;RP11-452L6.5,upstream_gene_variant,,ENST00000564629,;ARMC5,3_prime_UTR_variant,,ENST00000564514,;ARMC5,upstream_gene_variant,,ENST00000570119,;							MODERATE	635/2808	C212Y	ARMC5_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000268314		CCDS45472.1			1	
VPS35	0	LGGM	GRCh37	16	46696320	46696320	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	3	.	.	ENST00000299138.7:c.1902T>C	p.Thr634=	p.T634=	ENST00000299138	NM_018206.4	634	acT/acC	0	1	1	UPI0000138BEF	0		ENST00000299138		ENSG00000069329	13487		43			HGNC	p.T634T		VPS35		SNV			1				ENST00000299138	protein_coding			hmmpanther:PTHR11099,Pfam_domain:PF03635,PIRSF_domain:PIRSF009375,Superfamily_domains:SSF48371		T		G		1961/6780							YES	VPS35,synonymous_variant,p.=,ENST00000299138,NM_018206.4;RP11-93O14.2,upstream_gene_variant,,ENST00000569353,;VPS35,3_prime_UTR_variant,,ENST00000568784,;VPS35,non_coding_transcript_exon_variant,,ENST00000562420,;							LOW	1902/2391		VPS35_HUMAN			Transcript			.	ENSP00000299138		CCDS10721.1			1	
ASIC5	0	LGGM	GRCh37	4	156775454	156775454	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	3	.	.	ENST00000537611.2:c.360T>C	p.Asp120=	p.D120=	ENST00000537611	NM_017419.2	120	gaT/gaC	0	1	1	UPI00000433EB	0		ENST00000537611		ENSG00000256394	17537	8.80E-05	43			HGNC	p.D120D	rs766852627	ASIC5		SNV							ENST00000537611	protein_coding			hmmpanther:PTHR11690,hmmpanther:PTHR11690:SF126,Pfam_domain:PF00858		D		G		407/1692	3.02E-05						YES	ASIC5,synonymous_variant,p.=,ENST00000537611,NM_017419.2;TDO2,upstream_gene_variant,,ENST00000506072,;TDO2,upstream_gene_variant,,ENST00000507590,;TDO2,upstream_gene_variant,,ENST00000506181,;TDO2,upstream_gene_variant,,ENST00000503634,;							LOW	360/1518		ASIC5_HUMAN			Transcript			.	ENSP00000442477	2.47E-05	CCDS3793.1			1	
HNRNPUL1	0	LGGM	GRCh37	19	41800584	41800584	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	3	.	.	ENST00000392006.3:c.1511T>C	p.Leu504Pro	p.L504P	ENST00000392006	NM_007040.3	504	cTa/cCa	0	1	1	UPI000013D3F4	0	getma.org/pdb.php?prot=HNRL1_HUMAN&from=423&to=568&var=L504P	ENST00000392006		ENSG00000105323	17011		28	2.835		HGNC	p.L404P		HNRNPUL1		SNV							ENST00000352456	protein_coding	getma.org/?cm=var&var=hg19,19,41800584,T,C&fts=all		hmmpanther:PTHR12381,hmmpanther:PTHR12381:SF41,Gene3D:3.40.50.300,Pfam_domain:PF13671,Superfamily_domains:SSF52540		L/P		C	medium	1684/3555		getma.org/?cm=msa&ty=f&p=HNRL1_HUMAN&rb=423&re=568&var=L504P	deleterious(0)	M0R203_HUMAN,M0R0K8_HUMAN,M0QZV6_HUMAN,M0QYZ0_HUMAN,M0QYI8_HUMAN,B3KM60_HUMAN			YES	HNRNPUL1,missense_variant,p.Leu504Pro,ENST00000392006,NM_007040.3;HNRNPUL1,missense_variant,p.Leu404Pro,ENST00000352456,NM_144732.2;HNRNPUL1,missense_variant,p.Leu415Pro,ENST00000263367,;HNRNPUL1,missense_variant,p.Leu504Pro,ENST00000602130,;HNRNPUL1,missense_variant,p.Leu390Pro,ENST00000378215,;HNRNPUL1,missense_variant,p.Leu404Pro,ENST00000595018,;HNRNPUL1,missense_variant,p.Leu404Pro,ENST00000593587,;HNRNPUL1,missense_variant,p.Leu353Pro,ENST00000599614,;HNRNPUL1,downstream_gene_variant,,ENST00000599719,;HNRNPUL1,upstream_gene_variant,,ENST00000600493,;HNRNPUL1,3_prime_UTR_variant,,ENST00000595196,;HNRNPUL1,downstream_gene_variant,,ENST00000600596,;							MODERATE	1511/2571	L504P	HNRL1_HUMAN			Transcript		unknown(0)	.	ENSP00000375863		CCDS12576.1			1	
CEP250	0	LGGM	GRCh37	20	34091682	34091682	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	3	.	.	ENST00000397527.1:c.5485G>A	p.Ala1829Thr	p.A1829T	ENST00000397527	NM_007186.3	1829	Gcc/Acc	0	1	1	UPI000006FE8F	0	NA	ENST00000397527		ENSG00000126001	1859		11	0.915		HGNC	p.A317T	rs757170525	CEP250		SNV							ENST00000422671	protein_coding	getma.org/?cm=var&var=hg19,20,34091682,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23159,hmmpanther:PTHR23159:SF1,Low_complexity_(Seg):seg		A/T		A	low	6205/8398	1.51E-05	getma.org/?cm=msa&ty=f&p=CP250_HUMAN&rb=1740&re=1939&var=A1829T		Q5JWS6_HUMAN,Q5JWS5_HUMAN,G1UI40_HUMAN			YES	CEP250,missense_variant,p.Ala1829Thr,ENST00000397527,NM_007186.3;CEP250,missense_variant,p.Ala1773Thr,ENST00000342580,;CEP250,missense_variant,p.Ala317Thr,ENST00000422671,;CEP250,downstream_gene_variant,,ENST00000425525,;							MODERATE	5485/7329	A1829T	CP250_HUMAN			Transcript		benign(0.045)	.	ENSP00000380661	8.24E-06	CCDS13255.1			1	
SLC4A1	0	LGGM	GRCh37	17	42334888	42334888	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	3	.	.	ENST00000262418.6:c.1456T>C	p.Tyr486His	p.Y486H	ENST00000262418	NM_000342.3	486	Tac/Cac	0	1	1	UPI00000375B8	0	NA	ENST00000262418		ENSG00000004939	11027		24	3.71		HGNC	p.Y486H		SLC4A1		SNV			1				ENST00000262418	protein_coding	getma.org/?cm=var&var=hg19,17,42334888,A,G&fts=all		Pfam_domain:PF00955,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,TIGRFAM_domain:TIGR00834		Y/H		G	high	1612/4965		getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=371&re=566&var=Y486H	deleterious(0)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN			YES	SLC4A1,missense_variant,p.Tyr486His,ENST00000262418,NM_000342.3;AC003043.1,upstream_gene_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000471005,;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,;SLC4A1,downstream_gene_variant,,ENST00000498270,;							MODERATE	1456/2736	Y486H	B3AT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262418		CCDS11481.1			1	
WNT8A	0	LGGM	GRCh37	5	137424618	137424618	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	3	.	.	ENST00000398754.1:c.370G>T	p.Gly124Cys	p.G124C	ENST00000398754	NM_058244.2	124	Ggc/Tgc	0	1	1	UPI00000443FE	0	getma.org/pdb.php?prot=WNT8A_HUMAN&from=15&to=337&var=G124C	ENST00000398754		ENSG00000061492	12788		48	3.235		HGNC	p.G124C		WNT8A		SNV							ENST00000398754	protein_coding	getma.org/?cm=var&var=hg19,5,137424618,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12027:SF92,hmmpanther:PTHR12027,Pfam_domain:PF00110,SMART_domains:SM00097,Prints_domain:PR01892		G/C		T	medium	375/1498		getma.org/?cm=msa&ty=f&p=WNT8A_HUMAN&rb=15&re=337&var=G124C	deleterious(0)				YES	WNT8A,missense_variant,p.Gly142Cys,ENST00000506684,;WNT8A,missense_variant,p.Gly124Cys,ENST00000398754,NM_058244.2;WNT8A,missense_variant,p.Gly142Cys,ENST00000504809,;WNT8A,missense_variant,p.Gly124Cys,ENST00000361560,;							MODERATE	370/1056	G124C	WNT8A_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000381739		CCDS43368.1			1	
KCTD18	0	LGGM	GRCh37	2	201354977	201354977	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	3	.	.	ENST00000359878.3:c.1127T>C	p.Val376Ala	p.V376A	ENST00000359878	NM_152387.2	376	gTg/gCg	0	1	1	UPI0000209355	0	NA	ENST00000359878		ENSG00000155729	26446		27	0.255		HGNC	p.V376A		KCTD18		SNV							ENST00000359878	protein_coding	getma.org/?cm=var&var=hg19,2,201354977,A,G&fts=all				V/A		G	neutral	1638/2940		getma.org/?cm=msa&ty=f&p=KCD18_HUMAN&rb=122&re=398&var=V376A	tolerated_low_confidence(0.19)				YES	KCTD18,missense_variant,p.Val376Ala,ENST00000359878,NM_152387.2;KCTD18,missense_variant,p.Val376Ala,ENST00000409157,;KCTD18,downstream_gene_variant,,ENST00000468413,;							MODERATE	1127/1281	V376A	KCD18_HUMAN			Transcript		benign(0.101)	.	ENSP00000352941		CCDS2330.1			1	
WIF1	0	LGGM	GRCh37	12	65448912	65448912	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	3	.	.	ENST00000286574.4:c.1004G>T	p.Arg335Ile	p.R335I	ENST00000286574	NM_007191.4	335	aGa/aTa	0	1	1	UPI0000038BEE	0	getma.org/pdb.php?prot=WIF1_HUMAN&from=325&to=337&var=R335I	ENST00000286574		ENSG00000156076	18081		37	1.76		HGNC	p.R335I		WIF1		SNV							ENST00000286574	protein_coding	getma.org/?cm=var&var=hg19,12,65448912,C,A&fts=all		PROSITE_profiles:PS50026,hmmpanther:PTHR24838,hmmpanther:PTHR24838:SF30,PROSITE_patterns:PS00022,PROSITE_patterns:PS01186,Pfam_domain:PF12661,Gene3D:2gy5A03,SMART_domains:SM00181		R/I		A	low	1379/2238		getma.org/?cm=msa&ty=f&p=WIF1_HUMAN&rb=305&re=357&var=R335I	deleterious(0)	F5H8A3_HUMAN,B4DX53_HUMAN			YES	WIF1,missense_variant,p.Arg335Ile,ENST00000286574,NM_007191.4;WIF1,missense_variant,p.Arg84Ile,ENST00000543094,;							MODERATE	1004/1140	R335I	WIF1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000286574		CCDS8971.1			1	
POLR3D	0	LGGM	GRCh37	8	22106673	22106673	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	3	.	.	ENST00000397802.4:c.772C>T	p.Leu258=	p.L258=	ENST00000397802		258	Ctg/Ttg	0	1		UPI000006CE69	0		ENST00000306433		ENSG00000168495	1080		15			HGNC	p.L258L		POLR3D		SNV							ENST00000306433	protein_coding			hmmpanther:PTHR13408,hmmpanther:PTHR13408:SF2		L		T		857/1931				E5RHT4_HUMAN,D3DSR2_HUMAN				POLR3D,synonymous_variant,p.=,ENST00000397802,;POLR3D,synonymous_variant,p.=,ENST00000306433,NM_001722.2;POLR3D,downstream_gene_variant,,ENST00000519237,;MIR320A,upstream_gene_variant,,ENST00000385302,;POLR3D,non_coding_transcript_exon_variant,,ENST00000517789,;POLR3D,intron_variant,,ENST00000518039,;							LOW	772/1197		RPC4_HUMAN			Transcript			.	ENSP00000303088		CCDS34858.1			1	
SLC28A1	0	LGGM	GRCh37	15	85433719	85433719	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	3	3	.	.	ENST00000394573.1:c.231G>A	p.Glu77=	p.E77=	ENST00000394573	NM_004213.3	77	gaG/gaA	0	1		UPI000013DE67	0		ENST00000286749		ENSG00000156222	11001		6			HGNC	p.E77E		SLC28A1		SNV							ENST00000286749	protein_coding			hmmpanther:PTHR10590,hmmpanther:PTHR10590:SF12		E		A		321/2636								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.=,ENST00000338602,NM_201651.1;SLC28A1,5_prime_UTR_variant,,ENST00000537703,;							LOW	231/1950		S28A1_HUMAN			Transcript			.	ENSP00000286749		CCDS10334.1			1	
CSF2RB	0	LGGM	GRCh37	22	37329955	37329955	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	4	3	.	.	ENST00000403662.3:c.1234G>A	p.Val412Met	p.V412M	ENST00000403662		412	Gtg/Atg	0	1	1	UPI0000128C9F	0	getma.org/pdb.php?prot=IL3RB_HUMAN&from=340&to=426&var=V412M	ENST00000403662		ENSG00000100368	2436		7	1.935		HGNC	p.V412M		CSF2RB		SNV			1				ENST00000403662	protein_coding	getma.org/?cm=var&var=hg19,22,37329955,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF001956,PROSITE_patterns:PS01355,PROSITE_profiles:PS50853,hmmpanther:PTHR23037,hmmpanther:PTHR23037:SF22,SMART_domains:SM00060,Superfamily_domains:SSF49265		V/M		A	medium	1456/4863		getma.org/?cm=msa&ty=f&p=IL3RB_HUMAN&rb=340&re=426&var=V412M	tolerated(0.07)	B0QY07_HUMAN			YES	CSF2RB,missense_variant,p.Val418Met,ENST00000262825,NM_000395.2;CSF2RB,missense_variant,p.Val412Met,ENST00000403662,;CSF2RB,missense_variant,p.Val418Met,ENST00000406230,;CSF2RB,missense_variant,p.Val359Met,ENST00000536485,;CSF2RB,downstream_gene_variant,,ENST00000421539,;							MODERATE	1234/2694	V412M	IL3RB_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000384053		CCDS13936.1			1	
OBSL1	0	LGGM	GRCh37	2	220435027	220435027	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	3	.	.	ENST00000404537.1:c.928C>T	p.Gln310Ter	p.Q310*	ENST00000404537	NM_015311.2	310	Cag/Tag	0	1	1	UPI0000E07EA0	0	NA	ENST00000404537		ENSG00000124006	29092		20	0		HGNC	p.Q310X		OBSL1		SNV			1				ENST00000265318	protein_coding	getma.org/?cm=var&var=hg19,2,220435027,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF1,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		Q/*		A	NA	985/5841		NA					YES	OBSL1,stop_gained,p.Gln310Ter,ENST00000404537,NM_015311.2;OBSL1,stop_gained,p.Gln310Ter,ENST00000265318,;OBSL1,stop_gained,p.Gln310Ter,ENST00000603926,NM_001173431.1;OBSL1,stop_gained,p.Gln310Ter,ENST00000373876,;OBSL1,stop_gained,p.Gln310Ter,ENST00000373873,NM_001173408.1;OBSL1,intron_variant,,ENST00000289656,;INHA,upstream_gene_variant,,ENST00000243786,NM_002191.3;OBSL1,non_coding_transcript_exon_variant,,ENST00000465589,;INHA,intron_variant,,ENST00000489456,;OBSL1,downstream_gene_variant,,ENST00000491370,;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,;OBSL1,upstream_gene_variant,,ENST00000462385,;							HIGH	928/5691	Q310*	OBSL1_HUMAN			Transcript			.	ENSP00000385636		CCDS46520.1			1	
VASH1	0	LGGM	GRCh37	14	77242396	77242396	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	3	.	.	ENST00000167106.4:c.692C>T	p.Pro231Leu	p.P231L	ENST00000167106	NM_014909.4	231	cCc/cTc	0	1	1	UPI0000073F7C	0	NA	ENST00000167106		ENSG00000071246	19964		9	-1.185		HGNC	p.P231L		VASH1		SNV							ENST00000167106	protein_coding	getma.org/?cm=var&var=hg19,14,77242396,C,T&fts=all		Pfam_domain:PF14822,hmmpanther:PTHR15750:SF3,hmmpanther:PTHR15750		P/L		T	neutral	1325/5724		getma.org/?cm=msa&ty=f&p=VASH1_HUMAN&rb=44&re=343&var=P231L	tolerated(1)				YES	VASH1,missense_variant,p.Pro231Leu,ENST00000167106,NM_014909.4;VASH1,downstream_gene_variant,,ENST00000554237,;VASH1,upstream_gene_variant,,ENST00000554743,;RP11-488C13.7,upstream_gene_variant,,ENST00000553758,;RP11-488C13.6,intron_variant,,ENST00000556368,;RP11-488C13.6,downstream_gene_variant,,ENST00000553507,;VASH1,non_coding_transcript_exon_variant,,ENST00000556038,;VASH1,downstream_gene_variant,,ENST00000553518,;							MODERATE	692/1098	P231L	VASH1_HUMAN			Transcript		benign(0.002)	.	ENSP00000167106		CCDS9851.1			1	
PYGM	0	LGGM	GRCh37	11	64522174	64522174	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	3	.	.	ENST00000164139.3:c.990C>T	p.Phe330=	p.F330=	ENST00000164139	NM_005609.2	330	ttC/ttT	0	1	1	UPI000013C5AC	0		ENST00000164139		ENSG00000068976	9726		9			HGNC	p.F330F		PYGM		SNV			1				ENST00000164139	protein_coding			Gene3D:3.40.50.2000,Pfam_domain:PF00343,PIRSF_domain:PIRSF000460,hmmpanther:PTHR11468,hmmpanther:PTHR11468:SF1,Superfamily_domains:SSF53756,TIGRFAM_domain:TIGR02093		F		A		1389/3198							YES	PYGM,synonymous_variant,p.=,ENST00000164139,NM_005609.2;PYGM,synonymous_variant,p.=,ENST00000377432,NM_001164716.1;PYGM,upstream_gene_variant,,ENST00000462303,;PYGM,upstream_gene_variant,,ENST00000460413,;							LOW	990/2529		PYGM_HUMAN			Transcript			.	ENSP00000164139		CCDS8079.1			1	
ZNF652	0	LGGM	GRCh37	17	47376027	47376027	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	3	.	.	ENST00000362063.2:c.1569C>T	p.Ala523=	p.A523=	ENST00000362063	NM_014897.2	523	gcC/gcT	0	1	1	UPI000006D93D	0		ENST00000362063		ENSG00000198740	29147		10			HGNC	p.A523A		ZNF652		SNV							ENST00000430262	protein_coding			hmmpanther:PTHR24382:SF21,hmmpanther:PTHR24382		A		A		1888/5988							YES	ZNF652,synonymous_variant,p.=,ENST00000362063,NM_014897.2;ZNF652,synonymous_variant,p.=,ENST00000430262,NM_001145365.1;ZNF652,synonymous_variant,p.=,ENST00000508237,;							LOW	1569/1821		ZN652_HUMAN			Transcript			.	ENSP00000354686		CCDS32677.1			1	
DPP9	0	LGGM	GRCh37	19	4719934	4719934	+	5_prime_UTR_variant	5'UTR	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	4	.	.	ENST00000262960.9:c.-16G>A		*6*	ENST00000262960	NM_139159.4			0	1		UPI000000D85D	0		ENST00000598800		ENSG00000142002	18648		22			HGNC	-		DPP9		SNV			1				-	protein_coding							T		206/3098				M0R3E8_HUMAN,M0QXN4_HUMAN				DPP9,splice_donor_variant,,ENST00000597726,;DPP9,5_prime_UTR_variant,,ENST00000262960,NM_139159.4;DPP9,5_prime_UTR_variant,,ENST00000598800,;DPP9,5_prime_UTR_variant,,ENST00000597849,;DPP9,5_prime_UTR_variant,,ENST00000598360,;DPP9,5_prime_UTR_variant,,ENST00000600621,;DPP9,5_prime_UTR_variant,,ENST00000601130,;DPP9,5_prime_UTR_variant,,ENST00000602161,;DPP9,5_prime_UTR_variant,,ENST00000598041,;DPP9,upstream_gene_variant,,ENST00000593973,;DPP9,upstream_gene_variant,,ENST00000599248,;DPP9,non_coding_transcript_exon_variant,,ENST00000600497,;DPP9,non_coding_transcript_exon_variant,,ENST00000595940,;DPP9,non_coding_transcript_exon_variant,,ENST00000597024,;DPP9,5_prime_UTR_variant,,ENST00000600556,;DPP9,non_coding_transcript_exon_variant,,ENST00000601764,;							MODIFIER	-/2592		DPP9_HUMAN			Transcript			.	ENSP00000469603					1	
UBR2	0	LGGM	GRCh37	6	42601984	42601984	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000372899.1:c.1546-1172A>G		*516*	ENST00000372899	NM_015255.2			0	1	1	UPI0000074466	0		ENST00000372899		ENSG00000024048	21289		17			HGNC	-		UBR2		SNV							ENST00000372883	protein_coding							G		-/7857				B3KXG6_HUMAN			YES	UBR2,splice_acceptor_variant,,ENST00000372883,;UBR2,intron_variant,,ENST00000372899,NM_015255.2;UBR2,intron_variant,,ENST00000372901,;							MODIFIER	-/5268		UBR2_HUMAN			Transcript			.	ENSP00000361990		CCDS4870.1			1	
TOX	0	LGGM	GRCh37	8	59764082	59764082	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	4	.	.	ENST00000361421.1:c.693+1G>A		p.X231_splice	ENST00000361421	NM_014729.2			0	1	1	UPI0000070A73	0		ENST00000361421		ENSG00000198846	18988		25			HGNC	-		TOX		SNV							ENST00000361421	protein_coding							T		-/4131				B4DYA1_HUMAN			YES	TOX,splice_donor_variant,,ENST00000361421,NM_014729.2;							HIGH	693/1581		TOX_HUMAN			Transcript			.	ENSP00000354842		CCDS34897.1			1	
MTAP	0	LGGM	GRCh37	9	21818032	21818032	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	4	.	.	ENST00000380172.4:c.180-2A>T		p.X60_splice	ENST00000380172	NM_002451.3			0	1	1	UPI0000110BBE	0		ENST00000380172		ENSG00000099810	7413		23			HGNC	-		MTAP		SNV			1				ENST00000380172	protein_coding							T		-/6122							YES	MTAP,splice_acceptor_variant,,ENST00000380172,NM_002451.3;MTAP,splice_acceptor_variant,,ENST00000580900,;MTAP,splice_acceptor_variant,,ENST00000460874,;MTAP,splice_acceptor_variant,,ENST00000427788,;MTAP,splice_acceptor_variant,,ENST00000579422,;MTAP,splice_acceptor_variant,,ENST00000419385,;MTAP,splice_acceptor_variant,,ENST00000580718,;RP11-145E5.5,splice_acceptor_variant,,ENST00000404796,;MTAP,downstream_gene_variant,,ENST00000580675,;							HIGH	180/852		MTAP_HUMAN			Transcript			.	ENSP00000369519		CCDS6509.1			1	
GUCY1A2	0	LGGM	GRCh37	11	106647310	106647310	+	splice_acceptor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	4	.	.	ENST00000282249.2:c.1693-2A>G		p.X565_splice	ENST00000282249	NM_001256424.1			0	1		UPI0000128C17	0		ENST00000526355		ENSG00000152402	4684		47			HGNC	-		GUCY1A2		SNV							ENST00000526355	protein_coding							C		-/16205								GUCY1A2,splice_acceptor_variant,,ENST00000526355,NM_000855.2;GUCY1A2,splice_acceptor_variant,,ENST00000282249,NM_001256424.1;GUCY1A2,splice_acceptor_variant,,ENST00000347596,;							HIGH	1693/2199		GCYA2_HUMAN			Transcript			.	ENSP00000431245		CCDS8335.1			1	
SZT2	0	LGGM	GRCh37	1	43881629	43881629	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000562955.1:c.631-2A>T		p.X211_splice	ENST00000562955	NM_015284.3			0	1	1	UPI0001E24F46	0		ENST00000562955		ENSG00000198198	29040		17			HGNC	-		SZT2		SNV			1				ENST00000562955	protein_coding							T		-/12281							YES	SZT2,splice_acceptor_variant,,ENST00000562955,NM_015284.3;SZT2,upstream_gene_variant,,ENST00000470139,;SZT2,downstream_gene_variant,,ENST00000406439,;							HIGH	631/10128		SZT2_HUMAN			Transcript			.	ENSP00000457168		CCDS30694.2			1	
GABRR3	0	LGGM	GRCh37	3	97736568	97736568	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	4	.	.	ENST00000470589.1:n.356-2A>T		p.X119_splice	ENST00000470589				0	1			0		ENST00000472788		ENSG00000183185	17969		14			HGNC	-		GABRR3		SNV							ENST00000472788	polymorphic_pseudogene							A		-/1416								GABRR3,splice_acceptor_variant,,ENST00000470589,;GABRR3,splice_acceptor_variant,,ENST00000472788,NM_001105580.2;							HIGH	239/1404					Transcript			.	ENSP00000420790					1	
RXRG	0	LGGM	GRCh37	1	165397955	165397955	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	4	.	.	ENST00000359842.5:c.297+1G>A		p.X99_splice	ENST00000359842	NM_001256570.1			0	1	1	UPI000004989F	0		ENST00000359842		ENSG00000143171	10479		25			HGNC	-		RXRG		SNV							ENST00000359842	protein_coding							T		-/2036				F1D8Q7_HUMAN			YES	RXRG,splice_donor_variant,,ENST00000359842,NM_001256570.1,NM_006917.4;RXRG,upstream_gene_variant,,ENST00000470566,;							HIGH	297/1392		RXRG_HUMAN			Transcript			.	ENSP00000352900		CCDS1248.1			1	
SLC39A13	0	LGGM	GRCh37	11	47431947	47431947	+	splice_donor_variant	Splice_Site	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	4	.	.	ENST00000362021.4:c.301+1G>T		p.X101_splice	ENST00000362021	NM_001128225.2			0	1	1	UPI00004564C5	0		ENST00000362021		ENSG00000165915	20859		22			HGNC	-		SLC39A13		SNV			1				ENST00000533076	protein_coding							T		-/2291				K4DIB5_HUMAN			YES	SLC39A13,splice_donor_variant,,ENST00000524928,;SLC39A13,splice_donor_variant,,ENST00000362021,NM_001128225.2;SLC39A13,splice_donor_variant,,ENST00000354884,NM_152264.4;SLC39A13,splice_donor_variant,,ENST00000533076,;SLC39A13,splice_donor_variant,,ENST00000531974,;SLC39A13,splice_donor_variant,,ENST00000531865,;SLC39A13,splice_donor_variant,,ENST00000526614,;SLC39A13,splice_donor_variant,,ENST00000531419,;SLC39A13,splice_donor_variant,,ENST00000527091,;RP11-750H9.5,upstream_gene_variant,,ENST00000532943,;RP11-750H9.5,upstream_gene_variant,,ENST00000532340,;SLC39A13,upstream_gene_variant,,ENST00000529740,;SLC39A13,upstream_gene_variant,,ENST00000527829,;SLC39A13,upstream_gene_variant,,ENST00000528979,;SLC39A13,upstream_gene_variant,,ENST00000524886,;							HIGH	301/1116		S39AD_HUMAN			Transcript			.	ENSP00000354689		CCDS44592.1			1	
ASB9	0	LGGM	GRCh37	X	15268550	15268550	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	4	.	.	ENST00000380488.4:c.568+2T>C		p.X190_splice	ENST00000380488	NM_001031739.2			0	1	1	UPI00001260ED	0		ENST00000380488		ENSG00000102048	17184		25			HGNC	-		ASB9		SNV							ENST00000380488	protein_coding							G		-/1678							YES	ASB9,splice_donor_variant,,ENST00000546332,NM_001168531.1;ASB9,splice_donor_variant,,ENST00000380488,NM_001031739.2;ASB9,splice_donor_variant,,ENST00000380485,NM_024087.2;ASB9,splice_donor_variant,,ENST00000380483,NM_001168530.1;ASB9,splice_donor_variant,,ENST00000477346,;ASB9,splice_donor_variant,,ENST00000473862,;ASB9,downstream_gene_variant,,ENST00000470015,;ASB9,downstream_gene_variant,,ENST00000481384,;ASB9,downstream_gene_variant,,ENST00000484017,;							HIGH	568/885		ASB9_HUMAN			Transcript			.	ENSP00000369855		CCDS35208.1			1	
ZSWIM8	0	LGGM	GRCh37	10	75559864	75559864	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	96	4	.	.	ENST00000398706.2:c.4761G>A	p.Met1587Ile	p.M1587I	ENST00000398706	NM_015037.3	1587	atG/atA	0	1		UPI0001593B39	0	NA	ENST00000605216		ENSG00000214655	23528		100	1.81		HGNC	p.M1587I		ZSWIM8		SNV							ENST00000398706	protein_coding	getma.org/?cm=var&var=hg19,10,75559864,G,A&fts=all		hmmpanther:PTHR22619		M/I		A	low	4963/6004		getma.org/?cm=msa&ty=f&p=K0913_HUMAN&rb=634&re=1835&var=M1582I	tolerated(0.14)					ZSWIM8,missense_variant,p.Met1587Ile,ENST00000604729,;ZSWIM8,missense_variant,p.Met1587Ile,ENST00000398706,NM_015037.3;ZSWIM8,missense_variant,p.Met1582Ile,ENST00000605216,NM_001242487.1;ZSWIM8,missense_variant,p.Met1549Ile,ENST00000603114,NM_001242488.1;ZSWIM8,missense_variant,p.Met922Ile,ENST00000603187,;ZSWIM8,missense_variant,p.Met857Ile,ENST00000412198,;ZSWIM8,missense_variant,p.Met855Ile,ENST00000604754,;ZSWIM8,intron_variant,,ENST00000604524,;NDST2,downstream_gene_variant,,ENST00000299641,NM_003635.3;NDST2,downstream_gene_variant,,ENST00000309979,;ZSWIM8,upstream_gene_variant,,ENST00000466354,;NDST2,downstream_gene_variant,,ENST00000429742,;ZSWIM8-AS1,intron_variant,,ENST00000456638,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603840,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603409,;ZSWIM8,non_coding_transcript_exon_variant,,ENST00000603195,;ZSWIM8,intron_variant,,ENST00000604165,;ZSWIM8,upstream_gene_variant,,ENST00000603309,;ZSWIM8,downstream_gene_variant,,ENST00000489234,;ZSWIM8,downstream_gene_variant,,ENST00000425051,;ZSWIM8,downstream_gene_variant,,ENST00000487278,;ZSWIM8,upstream_gene_variant,,ENST00000466568,;ZSWIM8,3_prime_UTR_variant,,ENST00000433366,;ZSWIM8,3_prime_UTR_variant,,ENST00000492395,;RP11-574K11.31,intron_variant,,ENST00000603027,;RP11-574K11.31,intron_variant,,ENST00000603706,;							MODERATE	4746/5514	M1582I	ZSWM8_HUMAN			Transcript		benign(0.001)	.	ENSP00000474748		CCDS60560.1			1	
TMEM176A	0	LGGM	GRCh37	7	150500794	150500794	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	4	.	.	ENST00000484928.1:c.429C>T	p.Gly143=	p.G143=	ENST00000484928		143	ggC/ggT	0	1		UPI000006E9AA	0		ENST00000004103		ENSG00000002933	24930		46			HGNC	p.G143G		TMEM176A		SNV							ENST00000004103	protein_coding			hmmpanther:PTHR15756:SF5,hmmpanther:PTHR15756,Pfam_domain:PF04103		G		T		730/1261				C9JRT9_HUMAN,C9JJ63_HUMAN				TMEM176A,synonymous_variant,p.=,ENST00000484928,;TMEM176A,synonymous_variant,p.=,ENST00000004103,NM_018487.2;TMEM176A,synonymous_variant,p.=,ENST00000475536,;TMEM176A,synonymous_variant,p.=,ENST00000461345,;TMEM176A,synonymous_variant,p.=,ENST00000468689,;TMEM176B,upstream_gene_variant,,ENST00000447204,NM_014020.3;TMEM176B,upstream_gene_variant,,ENST00000434545,NM_001101311.1,NM_001101312.1;TMEM176B,upstream_gene_variant,,ENST00000492607,;TMEM176B,upstream_gene_variant,,ENST00000326442,;TMEM176B,upstream_gene_variant,,ENST00000450753,NM_001101314.1;TMEM176A,non_coding_transcript_exon_variant,,ENST00000462826,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000494349,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000475007,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000481305,;TMEM176A,non_coding_transcript_exon_variant,,ENST00000474166,;TMEM176A,downstream_gene_variant,,ENST00000475710,;							LOW	429/708		T176A_HUMAN			Transcript			.	ENSP00000004103		CCDS5909.1			1	
MUC4	0	LGGM	GRCh37	3	195513822	195513822	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	4	.	.	ENST00000463781.3:c.4629C>A	p.Ser1543=	p.S1543=	ENST00000463781	NM_018406.6	1543	tcC/tcA	0	1	1	UPI0001B3CB30	0		ENST00000463781		ENSG00000145113	7514		49			HGNC	p.S1543S		MUC4		SNV							ENST00000466475	protein_coding			hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41		S		T		5089/17110				O75456_HUMAN,E9PDY6_HUMAN			YES	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,;							LOW	4629/16239					Transcript			.	ENSP00000417498		CCDS54700.1			1	
LMAN1L	0	LGGM	GRCh37	15	75115045	75115045	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	4	.	.	ENST00000309664.5:c.1194G>A	p.Glu398=	p.E398=	ENST00000309664	NM_021819.2	398	gaG/gaA	0	1	1	UPI00001AEF1F	0		ENST00000309664		ENSG00000140506	6632		14			HGNC	p.E79E	COSM3690536	LMAN1L		SNV						1	ENST00000567848	protein_coding			hmmpanther:PTHR12223,hmmpanther:PTHR12223:SF27		E		A		1333/1873							YES	LMAN1L,synonymous_variant,p.=,ENST00000309664,NM_021819.2;LMAN1L,synonymous_variant,p.=,ENST00000379709,;LMAN1L,synonymous_variant,p.=,ENST00000567848,;CPLX3,upstream_gene_variant,,ENST00000395018,NM_001030005.2;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000564823,;RP11-414J4.2,non_coding_transcript_exon_variant,,ENST00000488000,;LMAN1L,non_coding_transcript_exon_variant,,ENST00000565585,;LMAN1L,downstream_gene_variant,,ENST00000470711,;LMAN1L,downstream_gene_variant,,ENST00000456603,;LMAN1L,upstream_gene_variant,,ENST00000566046,;					1		LOW	1194/1581		LMA1L_HUMAN			Transcript			.	ENSP00000310431		CCDS10270.1			1	
ATG2A	0	LGGM	GRCh37	11	64675272	64675272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	4	.	.	ENST00000377264.3:c.2455A>T	p.Ser819Cys	p.S819C	ENST00000377264	NM_015104.2	819	Agt/Tgt	0	1	1	UPI00001C1F21	0	NA	ENST00000377264		ENSG00000110046	29028		13	0.695		HGNC	p.S819C		ATG2A		SNV							ENST00000421419	protein_coding	getma.org/?cm=var&var=hg19,11,64675272,T,A&fts=all		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF18		S/C		A	neutral	2568/6357		getma.org/?cm=msa&ty=f&p=ATG2A_HUMAN&rb=732&re=931&var=S819C	tolerated(0.24)	B4DV45_HUMAN			YES	ATG2A,missense_variant,p.Ser819Cys,ENST00000421419,;ATG2A,missense_variant,p.Ser819Cys,ENST00000377264,NM_015104.2;ATG2A,missense_variant,p.Ser621Cys,ENST00000418259,;ATG2A,downstream_gene_variant,,ENST00000461701,;							MODERATE	2455/5817	S819C	ATG2A_HUMAN			Transcript		benign(0.438)	.	ENSP00000366475		CCDS31602.1			1	
LRIT1	0	LGGM	GRCh37	10	85991715	85991715	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	4	.	.	ENST00000372105.3:c.1840G>A	p.Gly614Arg	p.G614R	ENST00000372105	NM_015613.2	614	Ggg/Agg	0	1	1	UPI000006F66C	0	NA	ENST00000372105		ENSG00000148602	23404	0.000617	10	1.61		HGNC	p.G614R	rs747601447	LRIT1		SNV							ENST00000372105	protein_coding	getma.org/?cm=var&var=hg19,10,85991715,C,T&fts=all		hmmpanther:PTHR24367:SF9,hmmpanther:PTHR24367		G/R		T	low	1862/2228		getma.org/?cm=msa&ty=f&p=LRIT1_HUMAN&rb=503&re=623&var=G614R	tolerated(0.12)				YES	LRIT1,missense_variant,p.Gly614Arg,ENST00000372105,NM_015613.2;							MODERATE	1840/1872	G614R	LRIT1_HUMAN			Transcript		benign(0.01)	common_variant	ENSP00000361177	5.77E-05	CCDS7373.1			1	
SH3BP2	0	LGGM	GRCh37	4	2822461	2822461	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	4	.	.	ENST00000503393.2:c.288C>T	p.Thr96=	p.T96=	ENST00000503393	NM_001145856.1	96	acC/acT	0	1		UPI0000124ED7	0		ENST00000356331		ENSG00000087266	10825		31			HGNC	p.T39T		SH3BP2		SNV			1				ENST00000389838	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF00169,PROSITE_profiles:PS50003,hmmpanther:PTHR15126,hmmpanther:PTHR15126:SF4,SMART_domains:SM00233,Superfamily_domains:SSF50729		T		T		378/9211				D6RER9_HUMAN,D6RC64_HUMAN,D6RBL6_HUMAN,D6RAB4_HUMAN,D6R995_HUMAN				SH3BP2,synonymous_variant,p.=,ENST00000442312,NM_001145855.1;SH3BP2,synonymous_variant,p.=,ENST00000356331,NM_003023.4;SH3BP2,synonymous_variant,p.=,ENST00000503393,NM_001145856.1;SH3BP2,synonymous_variant,p.=,ENST00000511747,;SH3BP2,synonymous_variant,p.=,ENST00000435136,;SH3BP2,synonymous_variant,p.=,ENST00000452765,NM_001122681.1;SH3BP2,synonymous_variant,p.=,ENST00000508385,;SH3BP2,synonymous_variant,p.=,ENST00000502260,;SH3BP2,synonymous_variant,p.=,ENST00000512014,;SH3BP2,synonymous_variant,p.=,ENST00000513095,;SH3BP2,synonymous_variant,p.=,ENST00000504294,;SH3BP2,synonymous_variant,p.=,ENST00000503219,;SH3BP2,synonymous_variant,p.=,ENST00000389838,;SH3BP2,upstream_gene_variant,,ENST00000515183,;SH3BP2,downstream_gene_variant,,ENST00000508338,;SH3BP2,synonymous_variant,p.=,ENST00000515737,;SH3BP2,synonymous_variant,p.=,ENST00000513020,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000509677,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000511185,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000511663,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000510074,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000512131,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000506932,;SH3BP2,non_coding_transcript_exon_variant,,ENST00000511237,;SH3BP2,upstream_gene_variant,,ENST00000505941,;							LOW	117/1686		3BP2_HUMAN			Transcript			.	ENSP00000348685		CCDS33944.1			1	
PCDHB13	0	LGGM	GRCh37	5	140595541	140595541	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	4	.	.	ENST00000341948.4:c.1846G>A	p.Gly616Ser	p.G616S	ENST00000341948	NM_018933.2	616	Ggc/Agc	0	1	1	UPI0000047816	0	getma.org/pdb.php?prot=PCDBD_HUMAN&from=575&to=663&var=G616S	ENST00000341948		ENSG00000187372	8684		25	-1.96		HGNC	p.G616S		PCDHB13		SNV							ENST00000341948	protein_coding	getma.org/?cm=var&var=hg19,5,140595541,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF61,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/S		A	neutral	2033/3485		getma.org/?cm=msa&ty=f&p=PCDBD_HUMAN&rb=575&re=663&var=G616S	tolerated_low_confidence(1)				YES	PCDHB13,missense_variant,p.Gly616Ser,ENST00000341948,NM_018933.2;PCDHB12,downstream_gene_variant,,ENST00000239450,NM_018932.3;PCDHB12,downstream_gene_variant,,ENST00000541609,;							MODERATE	1846/2397	G616S	PCDBD_HUMAN			Transcript		benign(0.005)	.	ENSP00000345491		CCDS4255.1			1	
FZD7	0	LGGM	GRCh37	2	202899434	202899434	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000286201.1:c.64C>T	p.Leu22=	p.L22=	ENST00000286201	NM_003507.1	22	Ctg/Ttg	0	1	1	UPI0000051051	0		ENST00000286201		ENSG00000155760	4045		17			HGNC	p.L22L		FZD7		SNV							ENST00000286201	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF31		L		T		125/3851							YES	FZD7,synonymous_variant,p.=,ENST00000286201,NM_003507.1;RP11-107N15.1,upstream_gene_variant,,ENST00000608741,;							LOW	64/1725		FZD7_HUMAN			Transcript			.	ENSP00000286201		CCDS2351.1			1	
SLC10A2	0	LGGM	GRCh37	13	103703768	103703768	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	4	.	.	ENST00000245312.3:c.600G>A	p.Ala200=	p.A200=	ENST00000245312	NM_000452.2	200	gcG/gcA	0	1	1	UPI000013CB9B	0		ENST00000245312		ENSG00000125255	10906		39			HGNC	p.A200A	rs749760245,COSM80524	SLC10A2		SNV			1			0,1	ENST00000245312	protein_coding			Pfam_domain:PF01758,hmmpanther:PTHR10361,hmmpanther:PTHR10361:SF19,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00841,Transmembrane_helices:TMhelix		A		T		1197/3777	1.51E-05						YES	SLC10A2,synonymous_variant,p.=,ENST00000245312,NM_000452.2;					0,1		LOW	600/1047		NTCP2_HUMAN			Transcript			.	ENSP00000245312	8.24E-06	CCDS9506.1			1	
C8orf31	0	LGGM	GRCh37	8	144126082	144126082	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	4	.	.	ENST00000395172.1:c.203T>A	p.Leu68Gln	p.L68Q	ENST00000395172	NM_173687.2	68	cTg/cAg	0	1	1	UPI0000073580	0	NA	ENST00000395172		ENSG00000177335	26731		19	0		HGNC	p.L68Q		C8orf31		SNV							ENST00000395172	protein_coding	getma.org/?cm=var&var=hg19,8,144126082,T,A&fts=all				L/Q		A	neutral	555/1875		getma.org/?cm=msa&ty=f&p=CH031_HUMAN&rb=1&re=132&var=L68Q	tolerated_low_confidence(0.07)				YES	C8orf31,missense_variant,p.Leu68Gln,ENST00000395172,NM_173687.2;C8orf31,non_coding_transcript_exon_variant,,ENST00000517653,;C8orf31,intron_variant,,ENST00000519775,;C8orf31,downstream_gene_variant,,ENST00000523099,;C8orf31,downstream_gene_variant,,ENST00000523766,;C8orf31,3_prime_UTR_variant,,ENST00000524181,;C8orf31,non_coding_transcript_exon_variant,,ENST00000520786,;							MODERATE	203/399	L68Q	CH031_HUMAN			Transcript		unknown(0)	.	ENSP00000378601		CCDS6395.1			1	
MACF1	0	LGGM	GRCh37	1	39550002	39550002	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	4	.	.	ENST00000545844.1:c.112C>T	p.Pro38Ser	p.P38S	ENST00000545844		38	Ccc/Tcc	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		23	-0.205		HGNC	p.P38S		MACF1		SNV							ENST00000317713	protein_coding	getma.org/?cm=var&var=hg19,1,39550002,C,T&fts=all				P/S		T	neutral	199/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=1&re=200&var=P38S		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Pro38Ser,ENST00000567887,;MACF1,missense_variant,p.Pro38Ser,ENST00000372915,;MACF1,missense_variant,p.Pro38Ser,ENST00000545844,;MACF1,missense_variant,p.Pro38Ser,ENST00000317713,;MACF1,missense_variant,p.Pro38Ser,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Pro38Ser,ENST00000539005,;MACF1,missense_variant,p.Pro38Ser,ENST00000602421,;MACF1,missense_variant,p.Pro38Ser,ENST00000484793,;							MODERATE	112/22167	P38S	MACF1_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000362006					1	
ARMS2	0	LGGM	GRCh37	10	124214379	124214379	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	4	.	.	ENST00000528446.1:c.136G>T	p.Val46Phe	p.V46F	ENST00000528446	NM_001099667.1	46	Gtt/Ttt	0	1	1	UPI00001D8068	0	NA	ENST00000528446		ENSG00000254636	32685		49	0		HGNC	p.V46F		ARMS2		SNV			1				ENST00000528446	protein_coding	getma.org/?cm=var&var=hg19,10,124214379,G,T&fts=all				V/F		T	neutral	211/818		getma.org/?cm=msa&ty=f&p=ARMS2_HUMAN&rb=1&re=107&var=V46F	deleterious_low_confidence(0)				YES	ARMS2,missense_variant,p.Val46Phe,ENST00000528446,NM_001099667.1;							MODERATE	136/324	V46F	ARMS2_HUMAN			Transcript		possibly_damaging(0.904)	.	ENSP00000436682		CCDS53585.1			1	
CD27	0	LGGM	GRCh37	12	6559778	6559778	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000266557.3:c.520C>T	p.Leu174Phe	p.L174F	ENST00000266557	NM_001242.4	174	Ctc/Ttc	0	1	1	UPI000013D6F7	0	NA	ENST00000266557		ENSG00000139193	11922		24	1.5		HGNC	p.L174F	rs757284025	CD27		SNV			1				ENST00000266557	protein_coding	getma.org/?cm=var&var=hg19,12,6559778,C,T&fts=all		hmmpanther:PTHR23097,hmmpanther:PTHR23097:SF23		L/F		T	low	749/1338	1.51E-05	getma.org/?cm=msa&ty=f&p=CD27_HUMAN&rb=105&re=260&var=L174F	tolerated(0.39)				YES	CD27,missense_variant,p.Leu174Phe,ENST00000266557,NM_001242.4;TAPBPL,upstream_gene_variant,,ENST00000266556,NM_018009.4;TAPBPL,upstream_gene_variant,,ENST00000544021,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000545339,;CD27-AS1,intron_variant,,ENST00000399492,;CD27,non_coding_transcript_exon_variant,,ENST00000541233,;TAPBPL,upstream_gene_variant,,ENST00000545700,;TAPBPL,upstream_gene_variant,,ENST00000539384,;TAPBPL,upstream_gene_variant,,ENST00000543567,;TAPBPL,upstream_gene_variant,,ENST00000544826,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000535639,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000537003,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000536388,;CD27-AS1,non_coding_transcript_exon_variant,,ENST00000538616,;CD27-AS1,intron_variant,,ENST00000504270,;CD27-AS1,upstream_gene_variant,,ENST00000417058,;CD27-AS1,upstream_gene_variant,,ENST00000447687,;							MODERATE	520/783	L174F	CD27_HUMAN			Transcript		benign(0.284)	.	ENSP00000266557	8.24E-06	CCDS8545.1			1	
RP11-196E1.3	0	LGGM	GRCh37	11	119510613	119510613	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	4	.	.	ENST00000532153.1:n.922G>A		*308*	ENST00000532153				0	1	1		0		ENST00000532153		ENSG00000254561			23			Clone_based_vega_gene	p.N371N		RP11-196E1.3		SNV							ENST00000341398	antisense							A		922/4476							YES	PVRL1,synonymous_variant,p.=,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,;							MODIFIER						Transcript			.						1	
ABCA4	0	LGGM	GRCh37	1	94508434	94508434	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	4	.	.	ENST00000370225.3:c.3211T>C	p.Ser1071Pro	p.S1071P	ENST00000370225	NM_000350.2	1071	Tcg/Ccg	0	1	1	UPI000012511C	0	getma.org/pdb.php?prot=ABCA4_HUMAN&from=970&to=1090&var=S1071P	ENST00000370225		ENSG00000198691	34		34	3.49		HGNC	p.S1071P	rs781332563	ABCA4		SNV			1				ENST00000370225	protein_coding	getma.org/?cm=var&var=hg19,1,94508434,A,G&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_patterns:PS00211,PROSITE_profiles:PS50893,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF97,SMART_domains:SM00382,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR01257		S/P		G	medium	3298/7309	3.00E-05	getma.org/?cm=msa&ty=f&p=ABCA4_HUMAN&rb=970&re=1090&var=S1071P	deleterious(0)	Q86V62_HUMAN,Q0QD48_HUMAN,F5H5R2_HUMAN			YES	ABCA4,missense_variant,p.Ser1071Pro,ENST00000370225,NM_000350.2;ABCA4,downstream_gene_variant,,ENST00000535735,;							MODERATE	3211/6822	S1071P	ABCA4_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000359245	1.65E-05	CCDS747.1			1	
PIEZO2	0	LGGM	GRCh37	18	10696472	10696472	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	4	.	.	ENST00000503781.3:c.6554C>T	p.Ala2185Val	p.A2185V	ENST00000503781	NM_022068.2	2185	gCc/gTc	0	1	1	UPI0001B3CB29	0	NA	ENST00000503781		ENSG00000154864	26270		40	1.95		HGNC	p.A142V		PIEZO2		SNV			1				ENST00000538948	protein_coding	getma.org/?cm=var&var=hg19,18,10696472,G,A&fts=all		hmmpanther:PTHR13167,hmmpanther:PTHR13167:SF24		A/V		A	medium	6554/8259		getma.org/?cm=msa&ty=f&p=PIEZ2_HUMAN&rb=2143&re=2216&var=A2185V	deleterious(0.01)	J3KSM7_HUMAN			YES	PIEZO2,missense_variant,p.Ala2185Val,ENST00000302079,;PIEZO2,missense_variant,p.Ala2210Val,ENST00000580640,;PIEZO2,missense_variant,p.Ala2185Val,ENST00000503781,NM_022068.2;PIEZO2,missense_variant,p.Ala142Val,ENST00000538948,;PIEZO2,missense_variant,p.Ala40Val,ENST00000285141,;PIEZO2,3_prime_UTR_variant,,ENST00000582913,;							MODERATE	6554/8259	A2185V	PIEZ2_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000421377					1	
RPUSD2	0	LGGM	GRCh37	15	40865996	40865996	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000315616.7:c.1174G>A	p.Val392Ile	p.V392I	ENST00000315616	NM_152260.1	392	Gtt/Att	0	1	1	UPI0000163919	0	NA	ENST00000315616		ENSG00000166133	24180		24	1.355		HGNC	p.V331I		RPUSD2		SNV							ENST00000559271	protein_coding	getma.org/?cm=var&var=hg19,15,40865996,G,A&fts=all		hmmpanther:PTHR10436,hmmpanther:PTHR10436:SF87,TIGRFAM_domain:TIGR00005,Superfamily_domains:SSF55120		V/I		A	low	1212/1875		getma.org/?cm=msa&ty=f&p=RUSD2_HUMAN&rb=379&re=545&var=V392I	tolerated(0.18)	B4DWW6_HUMAN			YES	RPUSD2,missense_variant,p.Val392Ile,ENST00000315616,NM_152260.1;RPUSD2,missense_variant,p.Val331Ile,ENST00000559271,NM_001286407.1;							MODERATE	1174/1638	V392I	RUSD2_HUMAN			Transcript		benign(0.001)	.	ENSP00000323288		CCDS10061.1			1	
TENM4	0	LGGM	GRCh37	11	78387390	78387390	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	4	.	.	ENST00000278550.7:c.5303T>A	p.Leu1768Ter	p.L1768*	ENST00000278550	NM_001098816.2	1768	tTg/tAg	0	1	1	UPI0000DD8112	0	NA	ENST00000278550		ENSG00000149256	29945		20	0		HGNC	p.L1768X		TENM4		SNV							ENST00000278550	protein_coding	getma.org/?cm=var&var=hg19,11,78387390,A,T&fts=all		hmmpanther:PTHR11219:SF9,hmmpanther:PTHR11219		L/*		T	NA	5766/14000		NA		G3CAT1_HUMAN			YES	TENM4,stop_gained,p.Leu1768Ter,ENST00000278550,NM_001098816.2;TENM4,stop_gained,p.Leu232Ter,ENST00000530738,;							HIGH	5303/8310	L1768*	TEN4_HUMAN			Transcript			.	ENSP00000278550		CCDS44688.1			1	
CCKAR	0	LGGM	GRCh37	4	26491098	26491098	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	4	.	.	ENST00000295589.3:c.121C>T	p.Pro41Ser	p.P41S	ENST00000295589	NM_000730.2	41	Cca/Tca	0	1	1	UPI00000503F3	0	getma.org/pdb.php?prot=CCKAR_HUMAN&from=1&to=47&var=P41S	ENST00000295589		ENSG00000163394	1570		44	1.95		HGNC	p.P41S		CCKAR		SNV							ENST00000295589	protein_coding	getma.org/?cm=var&var=hg19,4,26491098,G,A&fts=all		hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF60,Gene3D:1.20.1070.10,Pfam_domain:PF09193,Superfamily_domains:SSF81321		P/S		A	medium	316/1720		getma.org/?cm=msa&ty=f&p=CCKAR_HUMAN&rb=1&re=47&var=P41S	tolerated(0.41)				YES	CCKAR,missense_variant,p.Pro41Ser,ENST00000295589,NM_000730.2;							MODERATE	121/1287	P41S	CCKAR_HUMAN			Transcript		benign(0.004)	.	ENSP00000295589		CCDS3438.1			1	
EPSTI1	0	LGGM	GRCh37	13	43462502	43462502	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	4	.	.	ENST00000313640.7:c.1117C>T	p.Arg373Cys	p.R373C	ENST00000313640	NM_001002264.2	373	Cgt/Tgt	0	1		UPI00016277A6	0		ENST00000398762		ENSG00000133106	16465		53		128	HGNC	p.R373C	rs764396320	EPSTI1		SNV							ENST00000313640	protein_coding							A		-/957	1.50E-05			F5H799_HUMAN				EPSTI1,missense_variant,p.Arg373Cys,ENST00000313640,NM_001002264.2;EPSTI1,3_prime_UTR_variant,,ENST00000313624,NM_033255.3;EPSTI1,downstream_gene_variant,,ENST00000398762,;EPSTI1,non_coding_transcript_exon_variant,,ENST00000540470,;							MODIFIER	-/957		ESIP1_HUMAN	0.000151		Transcript			.	ENSP00000381746	1.65E-05				1	
SLIT3	0	LGGM	GRCh37	5	168175418	168175418	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	4	.	.	ENST00000519560.1:c.2159A>G	p.Gln720Arg	p.Q720R	ENST00000519560	NM_003062.3	720	cAg/cGg	0	1	1	UPI00001B0229	0	NA	ENST00000519560		ENSG00000184347	11087		16	-0.14		HGNC	p.Q720R		SLIT3		SNV							ENST00000519560	protein_coding	getma.org/?cm=var&var=hg19,5,168175418,T,C&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF15		Q/R		C	neutral	2579/9706		getma.org/?cm=msa&ty=f&p=SLIT3_HUMAN&rb=716&re=752&var=Q720R	tolerated(0.21)				YES	SLIT3,missense_variant,p.Gln720Arg,ENST00000519560,NM_003062.3,NM_001271946.1;SLIT3,missense_variant,p.Gln720Arg,ENST00000332966,;SLIT3,missense_variant,p.Gln720Arg,ENST00000404867,;SLIT3,downstream_gene_variant,,ENST00000519486,;							MODERATE	2159/4572	Q720R	SLIT3_HUMAN			Transcript		benign(0.002)	.	ENSP00000430333		CCDS4369.1			1	
FCHO1	0	LGGM	GRCh37	19	17885075	17885075	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000594202.1:c.818C>T	p.Ala273Val	p.A273V	ENST00000594202	NM_001161357.1	273	gCg/gTg	0	1		UPI000004A0C6	0	NA	ENST00000252771		ENSG00000130475	29002		21	-0.895		HGNC	p.A273V	rs374509300	FCHO1		SNV	T:0						ENST00000594202	protein_coding	getma.org/?cm=var&var=hg19,19,17885075,C,T&fts=all		hmmpanther:PTHR23065,hmmpanther:PTHR23065:SF6		A/V	T:0.0001	T	neutral	1004/3118		getma.org/?cm=msa&ty=f&p=FCHO1_HUMAN&rb=93&re=292&var=A273V	tolerated(0.25)	M0R3E5_HUMAN,M0R2J7_HUMAN,M0R1K4_HUMAN,M0R107_HUMAN,M0QZS1_HUMAN,M0QZF0_HUMAN,M0QZE1_HUMAN,M0QYT8_HUMAN,M0QYN8_HUMAN,M0QYA9_HUMAN,M0QY09_HUMAN,M0QXY1_HUMAN,M0QXW2_HUMAN,M0QXD1_HUMAN				FCHO1,missense_variant,p.Ala273Val,ENST00000594202,NM_001161357.1;FCHO1,missense_variant,p.Ala273Val,ENST00000596536,NM_015122.2;FCHO1,missense_variant,p.Ala273Val,ENST00000252771,;FCHO1,missense_variant,p.Ala273Val,ENST00000389133,;FCHO1,missense_variant,p.Ala273Val,ENST00000539407,;FCHO1,missense_variant,p.Ala273Val,ENST00000600676,NM_001161358.1;FCHO1,missense_variant,p.Ala273Val,ENST00000596951,;FCHO1,missense_variant,p.Ala280Val,ENST00000597512,;FCHO1,missense_variant,p.Ala223Val,ENST00000595033,NM_001161359.1;FCHO1,downstream_gene_variant,,ENST00000595023,;FCHO1,downstream_gene_variant,,ENST00000596507,;FCHO1,downstream_gene_variant,,ENST00000597718,;FCHO1,downstream_gene_variant,,ENST00000600209,;FCHO1,downstream_gene_variant,,ENST00000594068,;FCHO1,downstream_gene_variant,,ENST00000595549,;FCHO1,downstream_gene_variant,,ENST00000593833,;FCHO1,downstream_gene_variant,,ENST00000597474,;FCHO1,non_coding_transcript_exon_variant,,ENST00000600393,;FCHO1,non_coding_transcript_exon_variant,,ENST00000597076,;FCHO1,upstream_gene_variant,,ENST00000600058,;FCHO1,upstream_gene_variant,,ENST00000595594,;FCHO1,upstream_gene_variant,,ENST00000602111,;FCHO1,upstream_gene_variant,,ENST00000599766,;FCHO1,upstream_gene_variant,,ENST00000596522,;							MODERATE	818/2670	A273V	FCHO1_HUMAN			Transcript		benign(0.049)	.	ENSP00000252771		CCDS32955.1			1	
CXCR4	0	LGGM	GRCh37	2	136872488	136872488	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	4	.	.	ENST00000241393.3:c.1010A>G	p.His337Arg	p.H337R	ENST00000241393	NM_003467.2	337	cAt/cGt	0	1		UPI000000106C	0	NA	ENST00000241393		ENSG00000121966	2561		10	0		HGNC	p.H337R	rs752167988	CXCR4	7.15E-05	SNV			1				ENST00000241393	protein_coding	getma.org/?cm=var&var=hg19,2,136872488,T,C&fts=all		Prints_domain:PR00645,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF7,Low_complexity_(Seg):seg		H/R		C	neutral	1115/1682		getma.org/?cm=msa&ty=f&p=CXCR4_HUMAN&rb=303&re=352&var=H337R	tolerated(0.14)	Q5MIL4_HUMAN				CXCR4,missense_variant,p.His341Arg,ENST00000409817,NM_001008540.1;CXCR4,missense_variant,p.His337Arg,ENST00000241393,NM_003467.2;CXCR4,non_coding_transcript_exon_variant,,ENST00000466288,;							MODERATE	1010/1059	H337R	CXCR4_HUMAN			Transcript		unknown(0)	.	ENSP00000241393	8.24E-06	CCDS46420.1			1	
EGLN2	0	LGGM	GRCh37	19	41307046	41307046	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	4	.	.	ENST00000593726.1:c.569G>A	p.Gly190Asp	p.G190D	ENST00000593726		190	gGc/gAc	0	1		UPI0000050C8F	0	getma.org/pdb.php?prot=EGLN2_HUMAN&from=166&to=281&var=G190D	ENST00000303961		ENSG00000269858	14660		34	2.8		HGNC	p.G190D		EGLN2		SNV							ENST00000406058	protein_coding	getma.org/?cm=var&var=hg19,19,41307046,G,A&fts=all		hmmpanther:PTHR12907,hmmpanther:PTHR12907:SF6,SMART_domains:SM00702		G/D		A	medium	879/2102		getma.org/?cm=msa&ty=f&p=EGLN2_HUMAN&rb=166&re=281&var=G190D	deleterious(0.01)	M0R2X9_HUMAN,M0R1W4_HUMAN,M0R1A3_HUMAN,M0R110_HUMAN,M0R0Z6_HUMAN,M0R035_HUMAN,M0QXR0_HUMAN,M0QXM8_HUMAN				EGLN2,missense_variant,p.Gly190Asp,ENST00000593726,;EGLN2,missense_variant,p.Gly190Asp,ENST00000406058,NM_053046.3;EGLN2,missense_variant,p.Gly190Asp,ENST00000303961,NM_080732.3;RAB4B,downstream_gene_variant,,ENST00000357052,NM_016154.4;EGLN2,upstream_gene_variant,,ENST00000594140,;EGLN2,downstream_gene_variant,,ENST00000593972,;RAB4B,downstream_gene_variant,,ENST00000595728,;EGLN2,downstream_gene_variant,,ENST00000593525,;EGLN2,downstream_gene_variant,,ENST00000594380,;EGLN2,downstream_gene_variant,,ENST00000598654,;EGLN2,downstream_gene_variant,,ENST00000601733,;EGLN2,downstream_gene_variant,,ENST00000596517,;EGLN2,downstream_gene_variant,,ENST00000593397,;EGLN2,upstream_gene_variant,,ENST00000597746,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000601949,;RAB4B-EGLN2,3_prime_UTR_variant,,ENST00000594136,;EGLN2,upstream_gene_variant,,ENST00000599579,;EGLN2,upstream_gene_variant,,ENST00000593445,;RAB4B,downstream_gene_variant,,ENST00000597476,;RAB4B,downstream_gene_variant,,ENST00000598430,;RAB4B,downstream_gene_variant,,ENST00000378307,;RAB4B-EGLN2,downstream_gene_variant,,ENST00000596216,;CTC-490E21.12,upstream_gene_variant,,ENST00000601627,;							MODERATE	569/1224	G190D	EGLN2_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000307080		CCDS12567.1			1	
AC011500.1	0	LGGM	GRCh37	19	39930426	39930426	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	4	.	.	ENST00000396843.1:c.215C>T	p.Thr72Ile	p.T72I	ENST00000396843		72	aCt/aTt	0	1	1	UPI0000D7DF93	0		ENST00000396843		ENSG00000213922			19			Clone_based_ensembl_gene	p.T72I		AC011500.1		SNV							ENST00000396843	protein_coding					T/I		T		215/468			tolerated_low_confidence(0.09)	Q1AN28_HUMAN			YES	AC011500.1,missense_variant,p.Thr72Ile,ENST00000396843,;SUPT5H,intron_variant,,ENST00000594990,;SUPT5H,upstream_gene_variant,,ENST00000599117,;RPS16,upstream_gene_variant,,ENST00000339471,;RPS16,upstream_gene_variant,,ENST00000251453,NM_001020.4;RPS16,upstream_gene_variant,,ENST00000599539,;RPS16,upstream_gene_variant,,ENST00000601655,;RPS16,upstream_gene_variant,,ENST00000599705,;RPS16,upstream_gene_variant,,ENST00000601390,;							MODERATE	215/468					Transcript		possibly_damaging(0.711)	.	ENSP00000380055					1	
KIAA1958	0	LGGM	GRCh37	9	115421816	115421816	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	4	.	.	ENST00000337530.6:c.1618G>A	p.Glu540Lys	p.E540K	ENST00000337530	NM_001287038.1	540	Gag/Aag	0	1	1	UPI000007327E	0	NA	ENST00000337530		ENSG00000165185	23427		22	0.695		HGNC	p.E540K		KIAA1958		SNV							ENST00000337530	protein_coding	getma.org/?cm=var&var=hg19,9,115421816,G,A&fts=all		Pfam_domain:PF12012,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF98		E/K		A	neutral	1914/11775		getma.org/?cm=msa&ty=f&p=K1958_HUMAN&rb=529&re=688&var=E540K	tolerated(0.31)				YES	KIAA1958,missense_variant,p.Glu540Lys,ENST00000337530,NM_001287038.1,NM_133465.3;KIAA1958,missense_variant,p.Glu568Lys,ENST00000536272,NM_001287036.1;							MODERATE	1618/2151	E540K	K1958_HUMAN			Transcript		possibly_damaging(0.874)	.	ENSP00000336940		CCDS35108.1			1	
LPA	0	LGGM	GRCh37	6	160969525	160969525	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	4	.	.	ENST00000447678.1:c.5140C>T	p.Pro1714Ser	p.P1714S	ENST00000447678	NM_005577.2	1714	Cct/Tct	0	1		UPI0000458AC9	0	NA	ENST00000316300		ENSG00000198670	6667		52	0.345		HGNC	p.P1714S		LPA		SNV			1				ENST00000316300	protein_coding	getma.org/?cm=var&var=hg19,6,160969525,G,A&fts=all		Superfamily_domains:SSF57440,hmmpanther:PTHR24261		P/S		A	neutral	5185/6414		getma.org/?cm=msa&ty=f&p=APOA_HUMAN&rb=4113&re=4226&var=P4222S	tolerated(0.71)	Q9UKJ7_HUMAN,Q9UIR8_HUMAN,Q9UIR6_HUMAN,Q9UIR5_HUMAN				LPA,missense_variant,p.Pro1714Ser,ENST00000447678,NM_005577.2;LPA,missense_variant,p.Pro1714Ser,ENST00000316300,;							MODERATE	5140/6123	P4222S	APOA_HUMAN			Transcript		benign(0)	.	ENSP00000321334		CCDS43523.1			1	
MTMR14	0	LGGM	GRCh37	3	9743593	9743593	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	4	.	.	ENST00000296003.4:c.1889G>T	p.Gly630Val	p.G630V	ENST00000296003	NM_001077525.2	630	gGg/gTg	0	1	1	UPI000007423D	0	NA	ENST00000296003		ENSG00000163719	26190		48	1.525		HGNC	p.G630V		MTMR14		SNV			1				ENST00000296003	protein_coding	getma.org/?cm=var&var=hg19,3,9743593,G,T&fts=all		hmmpanther:PTHR13524		G/V		T	low	2011/2494		getma.org/?cm=msa&ty=f&p=MTMRE_HUMAN&rb=585&re=650&var=G630V	tolerated(0.08)				YES	MTMR14,missense_variant,p.Gly630Val,ENST00000296003,NM_001077525.2;MTMR14,missense_variant,p.Gly578Val,ENST00000353332,NM_001077526.2;MTMR14,missense_variant,p.Gly518Val,ENST00000351233,NM_022485.4;MTMR14,missense_variant,p.Gly272Val,ENST00000420925,;CPNE9,upstream_gene_variant,,ENST00000383832,NM_153635.2;CPNE9,upstream_gene_variant,,ENST00000383831,;MTMR14,3_prime_UTR_variant,,ENST00000414996,;MTMR14,3_prime_UTR_variant,,ENST00000447144,;MTMR14,non_coding_transcript_exon_variant,,ENST00000606184,;CPNE9,upstream_gene_variant,,ENST00000491802,;							MODERATE	1889/1953	G630V	MTMRE_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000296003		CCDS43043.1			1	
GALT	0	LGGM	GRCh37	9	34646724	34646724	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	4	.	.	ENST00000378842.3:c.23C>A	p.Pro8His	p.P8H	ENST00000378842	NM_000155.3	8	cCt/cAt	0	1	1	UPI000012B073	0	NA	ENST00000378842		ENSG00000213930	4135		25	1.1		HGNC	p.P8H		GALT		SNV			1				ENST00000556278	protein_coding	getma.org/?cm=var&var=hg19,9,34646724,C,A&fts=all				P/H		A	low	65/1768		getma.org/?cm=msa&ty=f&p=GALT_HUMAN&rb=1&re=51&var=P8H	deleterious_low_confidence(0.01)	P78433_HUMAN,G3V3U5_HUMAN,D3DRM8_HUMAN,D1MBF6_HUMAN,D0EM86_HUMAN			YES	GALT,missense_variant,p.Pro8His,ENST00000378842,NM_000155.3;GALT,missense_variant,p.Pro8His,ENST00000556278,;GALT,5_prime_UTR_variant,,ENST00000450095,NM_001258332.1;IL11RA,upstream_gene_variant,,ENST00000555003,;GALT,non_coding_transcript_exon_variant,,ENST00000557541,;GALT,upstream_gene_variant,,ENST00000488412,;GALT,missense_variant,p.Pro8His,ENST00000554550,;GALT,missense_variant,p.Pro8His,ENST00000554085,;GALT,missense_variant,p.Pro8His,ENST00000473506,;GALT,missense_variant,p.Pro8His,ENST00000554897,;GALT,non_coding_transcript_exon_variant,,ENST00000555020,;GALT,non_coding_transcript_exon_variant,,ENST00000489643,;GALT,non_coding_transcript_exon_variant,,ENST00000554638,;GALT,non_coding_transcript_exon_variant,,ENST00000487381,;GALT,non_coding_transcript_exon_variant,,ENST00000472111,;GALT,non_coding_transcript_exon_variant,,ENST00000554944,;GALT,non_coding_transcript_exon_variant,,ENST00000473529,;GALT,non_coding_transcript_exon_variant,,ENST00000465543,;GALT,non_coding_transcript_exon_variant,,ENST00000554139,;GALT,non_coding_transcript_exon_variant,,ENST00000555214,;GALT,non_coding_transcript_exon_variant,,ENST00000605275,;GALT,non_coding_transcript_exon_variant,,ENST00000468099,;GALT,upstream_gene_variant,,ENST00000557706,;GALT,upstream_gene_variant,,ENST00000485531,;GALT,upstream_gene_variant,,ENST00000555086,;GALT,upstream_gene_variant,,ENST00000556494,;GALT,upstream_gene_variant,,ENST00000556244,;GALT,upstream_gene_variant,,ENST00000555754,;GALT,upstream_gene_variant,,ENST00000556403,;GALT,upstream_gene_variant,,ENST00000554330,;GALT,upstream_gene_variant,,ENST00000556157,;							MODERATE	23/1140	P8H	GALT_HUMAN			Transcript		benign(0.219)	.	ENSP00000368119		CCDS6565.1			1	
FBXL12	0	LGGM	GRCh37	19	9922189	9922189	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	4	.	.	ENST00000247977.4:c.364C>A	p.Leu122Met	p.L122M	ENST00000247977	NM_017703.1	122	Ctg/Atg	0	1	1	UPI000006EBD0	0	NA	ENST00000247977		ENSG00000127452	13611		30	0.895		HGNC	p.L122M		FBXL12		SNV							ENST00000247977	protein_coding	getma.org/?cm=var&var=hg19,19,9922189,G,T&fts=all		hmmpanther:PTHR23125:SF265,hmmpanther:PTHR23125,Gene3D:3.80.10.10,Superfamily_domains:SSF52047		L/M		T	low	606/1852		getma.org/?cm=msa&ty=f&p=FXL12_HUMAN&rb=51&re=250&var=L122M	tolerated(0.3)	K7EPN7_HUMAN,K7ELM5_HUMAN			YES	FBXL12,missense_variant,p.Leu122Met,ENST00000247977,NM_017703.1;FBXL12,missense_variant,p.Leu69Met,ENST00000591009,;FBXL12,missense_variant,p.Leu69Met,ENST00000585379,;FBXL12,missense_variant,p.Leu69Met,ENST00000590277,;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,,ENST00000586469,;FBXL12,3_prime_UTR_variant,,ENST00000589438,;FBXL12,3_prime_UTR_variant,,ENST00000592732,;FBXL12,3_prime_UTR_variant,,ENST00000590808,;							MODERATE	364/981	L122M	FXL12_HUMAN			Transcript		possibly_damaging(0.906)	.	ENSP00000247977		CCDS12218.1			1	
TSPYL1	0	LGGM	GRCh37	6	116600330	116600330	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000368608.3:c.664C>T	p.Pro222Ser	p.P222S	ENST00000368608	NM_003309.3	222	Cct/Tct	0	1	1	UPI000006EE16	0	NA	ENST00000368608		ENSG00000189241	12382		21	0		HGNC	p.P222S		TSPYL1		SNV			1				ENST00000368608	protein_coding	getma.org/?cm=var&var=hg19,6,116600330,G,A&fts=all		Superfamily_domains:SSF143113,hmmpanther:PTHR11875:SF57,hmmpanther:PTHR11875		P/S		A	neutral	737/3326		getma.org/?cm=msa&ty=f&p=TSYL1_HUMAN&rb=168&re=225&var=P222S	tolerated(0.16)				YES	TSPYL1,missense_variant,p.Pro222Ser,ENST00000368608,NM_003309.3;DSE,intron_variant,,ENST00000540275,;DSE,intron_variant,,ENST00000430252,;DSE,upstream_gene_variant,,ENST00000452085,NM_001080976.1;RP1-93H18.1,upstream_gene_variant,,ENST00000449314,;RP1-93H18.1,upstream_gene_variant,,ENST00000453463,;DSE,non_coding_transcript_exon_variant,,ENST00000607094,;							MODERATE	664/1314	P222S	TSYL1_HUMAN			Transcript		benign(0.02)	.	ENSP00000357597		CCDS34518.1			1	
STAT5A	0	LGGM	GRCh37	17	40451837	40451837	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	4	.	.	ENST00000345506.4:c.619A>C	p.Lys207Gln	p.K207Q	ENST00000345506	NM_003152.3	207	Aag/Cag	0	1	1	UPI0000136075	0	getma.org/pdb.php?prot=STA5A_HUMAN&from=138&to=330&var=K207Q	ENST00000345506		ENSG00000126561	11366		14	0.795		HGNC	p.K71Q		STAT5A		SNV							ENST00000590726	protein_coding	getma.org/?cm=var&var=hg19,17,40451837,A,C&fts=all		hmmpanther:PTHR11801:SF42,hmmpanther:PTHR11801,Pfam_domain:PF01017,Gene3D:1bg1A01,Superfamily_domains:SSF47655		K/Q		C	neutral	1261/4301		getma.org/?cm=msa&ty=f&p=STA5A_HUMAN&rb=138&re=330&var=K207Q	tolerated(0.47)	K7EIF9_HUMAN,C9JVV6_HUMAN			YES	STAT5A,missense_variant,p.Lys207Gln,ENST00000345506,NM_003152.3,NM_001288718.1;STAT5A,missense_variant,p.Lys207Gln,ENST00000452307,;STAT5A,missense_variant,p.Lys207Gln,ENST00000588868,NM_001288720.1;STAT5A,missense_variant,p.Lys207Gln,ENST00000590949,;STAT5A,missense_variant,p.Lys177Gln,ENST00000546010,;STAT5A,missense_variant,p.Lys71Gln,ENST00000590726,;STAT5A,upstream_gene_variant,,ENST00000479417,;							MODERATE	619/2385	K207Q	STA5A_HUMAN			Transcript		benign(0.012)	.	ENSP00000341208		CCDS11424.1			1	
FAM194A	0	LGGM	GRCh37	3	150396242	150396242	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	4	.	.	ENST00000295910.6:c.1211G>A	p.Ser404Asn	p.S404N	ENST00000295910	NM_152394.3	404	aGt/aAt	0	1	1	UPI000023281A	0	NA	ENST00000295910		ENSG00000163645	28602		39	0.69		HGNC	p.S404N		FAM194A		SNV							ENST00000295910	protein_coding	getma.org/?cm=var&var=hg19,3,150396242,C,T&fts=all		hmmpanther:PTHR23093:SF11,hmmpanther:PTHR23093		S/N		T	neutral	1264/2052		getma.org/?cm=msa&ty=f&p=F194A_HUMAN&rb=1&re=661&var=S404N	tolerated(0.52)				YES	FAM194A,missense_variant,p.Ser404Asn,ENST00000295910,NM_152394.3;FAM194A,missense_variant,p.Ser258Asn,ENST00000491361,;FAM194A,non_coding_transcript_exon_variant,,ENST00000491716,;							MODERATE	1211/1992	S404N	F194A_HUMAN			Transcript		benign(0.015)	.	ENSP00000295910		CCDS3151.2			1	
IER5	0	LGGM	GRCh37	1	181058909	181058909	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	4	.	.	ENST00000367577.4:c.871G>A	p.Glu291Lys	p.E291K	ENST00000367577	NM_016545.4	291	Gaa/Aaa	0	1	1	UPI000013E1C9	0	NA	ENST00000367577		ENSG00000162783	5393		13	1.445		HGNC	p.E291K		IER5		SNV							ENST00000367577	protein_coding	getma.org/?cm=var&var=hg19,1,181058909,G,A&fts=all		Pfam_domain:PF05760,hmmpanther:PTHR15895,hmmpanther:PTHR15895:SF12,Low_complexity_(Seg):seg		E/K		A	low	1272/2340		getma.org/?cm=msa&ty=f&p=IER5_HUMAN&rb=1&re=327&var=E291K	deleterious(0.03)				YES	IER5,missense_variant,p.Glu291Lys,ENST00000367577,NM_016545.4;RP11-309G3.3,upstream_gene_variant,,ENST00000606938,;							MODERATE	871/984	E291K	IER5_HUMAN			Transcript		benign(0.196)	.	ENSP00000356549		CCDS1343.1			1	
PDZD2	0	LGGM	GRCh37	5	32101334	32101334	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	4	.	.	ENST00000438447.1:c.8342G>A	p.Arg2781Lys	p.R2781K	ENST00000438447		2781	aGa/aAa	0	1	1	UPI000069648B	0	getma.org/pdb.php?prot=PDZD2_HUMAN&from=2751&to=2833&var=R2781K	ENST00000438447		ENSG00000133401	18486		18	0.445		HGNC	p.R2781K		PDZD2		SNV							ENST00000282493	protein_coding	getma.org/?cm=var&var=hg19,5,32101334,G,A&fts=all		PROSITE_profiles:PS50106,hmmpanther:PTHR11324:SF16,hmmpanther:PTHR11324,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/K		A	neutral	8730/11704		getma.org/?cm=msa&ty=f&p=PDZD2_HUMAN&rb=2751&re=2833&var=R2781K	deleterious(0.02)	B4DGS3_HUMAN			YES	PDZD2,missense_variant,p.Arg2781Lys,ENST00000438447,;PDZD2,missense_variant,p.Arg2781Lys,ENST00000282493,NM_178140.2;CTD-2152M20.2,downstream_gene_variant,,ENST00000503441,;PDZD2,non_coding_transcript_exon_variant,,ENST00000513490,;PDZD2,non_coding_transcript_exon_variant,,ENST00000515115,;PDZD2,intron_variant,,ENST00000397559,;							MODERATE	8342/8520	R2781K	PDZD2_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000402033		CCDS34137.1			1	
SRGAP2	0	LGGM	GRCh37	1	206611434	206611434	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	4	.	.	ENST00000295713.5:c.1494T>C	p.Leu499Pro	p.L499P	ENST00000295713		499	cTg/cCg	0	1	1	UPI000059D0A5	0		ENST00000295713		ENSG00000163486	19751		70			HGNC	p.L199P		SRGAP2		SNV							ENST00000439126	protein_coding			PROSITE_profiles:PS50238,hmmpanther:PTHR14166:SF6,hmmpanther:PTHR14166,Pfam_domain:PF00620,Gene3D:1.10.555.10,SMART_domains:SM00324,Superfamily_domains:SSF48350		L/P		C		1494/5967			deleterious(0)	Q5VZB5_HUMAN,Q5VZB4_HUMAN,B4DFE5_HUMAN,B3KM24_HUMAN			YES	SRGAP2,missense_variant,p.Leu499Pro,ENST00000295713,;SRGAP2,missense_variant,p.Leu445Pro,ENST00000414007,;SRGAP2,missense_variant,p.Leu199Pro,ENST00000439126,;SRGAP2,5_prime_UTR_variant,,ENST00000419187,;							MODERATE	1496/2958					Transcript		probably_damaging(0.999)	.	ENSP00000295713					1	
MYO1G	0	LGGM	GRCh37	7	45004551	45004551	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	4	.	.	ENST00000258787.7:c.2519T>A	p.Leu840Gln	p.L840Q	ENST00000258787	NM_033054.2	840	cTg/cAg	0	1	1	UPI00001D747C	0	NA	ENST00000258787		ENSG00000136286	13880		36	2.725		HGNC	p.L840Q		MYO1G		SNV							ENST00000258787	protein_coding	getma.org/?cm=var&var=hg19,7,45004551,A,T&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF359,Pfam_domain:PF06017		L/Q		T	medium	2656/3267		getma.org/?cm=msa&ty=f&p=MYO1G_HUMAN&rb=814&re=1017&var=L840Q	deleterious(0)				YES	MYO1G,missense_variant,p.Leu840Gln,ENST00000258787,NM_033054.2;RP4-647J21.1,upstream_gene_variant,,ENST00000568457,;MYO1G,3_prime_UTR_variant,,ENST00000495831,;MYO1G,non_coding_transcript_exon_variant,,ENST00000488554,;MYO1G,non_coding_transcript_exon_variant,,ENST00000463516,;MYO1G,non_coding_transcript_exon_variant,,ENST00000483585,;MYO1G,downstream_gene_variant,,ENST00000480503,;MYO1G,downstream_gene_variant,,ENST00000464434,;							MODERATE	2519/3057	L840Q	MYO1G_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000258787		CCDS34629.1			1	
TENM2	0	LGGM	GRCh37	5	167420148	167420148	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	4	.	.	ENST00000518659.1:c.1147G>A	p.Ala383Thr	p.A383T	ENST00000518659	NM_001122679.1	383	Gcg/Acg	0	1	1	UPI0001C48FC2	0	NA	ENST00000518659		ENSG00000145934	29943		40	1.39		HGNC	p.A383T	rs767488723,COSM3248434,COSM3248432,COSM3248433,COSM3393407	TENM2	6.06E-05	SNV						0,1,1,1,1	ENST00000518659	protein_coding	getma.org/?cm=var&var=hg19,5,167420148,G,A&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		A/T		A	low	1186/8550		getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=375&re=574&var=A383T	deleterious(0.02)	G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,missense_variant,p.Ala262Thr,ENST00000519204,;TENM2,missense_variant,p.Ala216Thr,ENST00000403607,;TENM2,missense_variant,p.Ala383Thr,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Ala383Thr,ENST00000545108,;TENM2,missense_variant,p.Ala192Thr,ENST00000520394,;TENM2,non_coding_transcript_exon_variant,,ENST00000518693,;TENM2,downstream_gene_variant,,ENST00000520393,;TENM2,downstream_gene_variant,,ENST00000522488,;					0,1,1,1,1		MODERATE	1147/8325	A383T	TEN2_HUMAN			Transcript		benign(0.019)	.	ENSP00000429430	8.27E-06				1	
SPAST	0	LGGM	GRCh37	2	32379471	32379471	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	4	.	.	ENST00000315285.3:c.1757C>T	p.Thr586Ile	p.T586I	ENST00000315285	NM_014946.3	586	aCt/aTt	0	1	1	UPI0000038A6B	0	getma.org/pdb.php?prot=SPAST_HUMAN&from=509&to=616&var=T586I	ENST00000315285		ENSG00000021574	11233		39	-0.17		HGNC	p.T586I		SPAST		SNV			1				ENST00000315285	protein_coding	getma.org/?cm=var&var=hg19,2,32379471,C,T&fts=all		HAMAP:MF_03021,hmmpanther:PTHR23074:SF66,hmmpanther:PTHR23074,Gene3D:1.10.8.60,PIRSF_domain:PIRSF037338,Superfamily_domains:SSF52540		T/I		T	neutral	1882/5117		getma.org/?cm=msa&ty=f&p=SPAST_HUMAN&rb=509&re=616&var=T586I	tolerated(0.21)	E5KRP5_HUMAN			YES	SPAST,missense_variant,p.Thr586Ile,ENST00000315285,NM_014946.3;SPAST,missense_variant,p.Thr554Ile,ENST00000345662,NM_199436.1;							MODERATE	1757/1851	T586I	SPAST_HUMAN			Transcript		benign(0.115)	.	ENSP00000320885		CCDS1778.1			1	
AMER3	0	LGGM	GRCh37	2	131520604	131520604	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000423981.1:c.959A>T	p.Gln320Leu	p.Q320L	ENST00000423981	NM_001105194.1	320	cAg/cTg	0	1		UPI0000D61239	0	NA	ENST00000321420		ENSG00000178171	26771		24	1.61		HGNC	p.Q320L		AMER3		SNV							ENST00000321420	protein_coding	getma.org/?cm=var&var=hg19,2,131520604,A,T&fts=all		Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2		Q/L		T	low	1218/3273		getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=201&re=400&var=Q320L	deleterious(0.01)	C9JS07_HUMAN,C9J4B8_HUMAN				AMER3,missense_variant,p.Gln320Leu,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Gln320Leu,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;							MODERATE	959/2586	Q320L	AMER3_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000314914		CCDS2164.1			1	
OBSCN	0	LGGM	GRCh37	1	228559760	228559760	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000570156.2:c.24152T>A	p.Leu8051Ter	p.L8051*	ENST00000570156	NM_001271223.2	8051	tTg/tAg	0	1		UPI0001838884	0	NA	ENST00000422127		ENSG00000154358	15719		21	0		HGNC	p.L7806X		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228559760,T,A&fts=all		hmmpanther:PTHR19897:SF17,hmmpanther:PTHR19897		L/*		A	NA	21325/24030		NA						OBSCN,stop_gained,p.Leu8051Ter,ENST00000570156,NM_001271223.2;OBSCN,stop_gained,p.Leu4728Ter,ENST00000366707,;OBSCN,stop_gained,p.Leu7094Ter,ENST00000422127,NM_001098623.2;OBSCN,stop_gained,p.Leu1711Ter,ENST00000441106,;							HIGH	21281/23907	L7094*	OBSCN_HUMAN			Transcript			.	ENSP00000409493		CCDS58065.1			1	
RSPH6A	0	LGGM	GRCh37	19	46307863	46307863	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	4	.	.	ENST00000221538.3:c.1300C>T	p.Pro434Ser	p.P434S	ENST00000221538	NM_030785.3	434	Ccg/Tcg	0	1	1	UPI0000037C58	0	NA	ENST00000221538		ENSG00000104941	14241		18	2.16		HGNC	p.P434S		RSPH6A		SNV							ENST00000597055	protein_coding	getma.org/?cm=var&var=hg19,19,46307863,G,A&fts=all		hmmpanther:PTHR13159,hmmpanther:PTHR13159:SF1,Pfam_domain:PF04712		P/S		A	medium	1443/2456		getma.org/?cm=msa&ty=f&p=RSH6A_HUMAN&rb=195&re=697&var=P434S	deleterious(0.01)	M0R103_HUMAN			YES	RSPH6A,missense_variant,p.Pro434Ser,ENST00000221538,NM_030785.3;RSPH6A,missense_variant,p.Pro434Ser,ENST00000597055,;RSPH6A,missense_variant,p.Pro170Ser,ENST00000600188,;							MODERATE	1300/2154	P434S	RSH6A_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000221538		CCDS12675.1			1	
EPB41L3	0	LGGM	GRCh37	18	5434109	5434109	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000341928.2:c.617G>A	p.Cys206Tyr	p.C206Y	ENST00000341928	NM_012307.3	206	tGc/tAc	0	1	1	UPI0000129AFA	0	getma.org/pdb.php?prot=E41L3_HUMAN&from=192&to=301&var=C206Y	ENST00000341928		ENSG00000082397	3380		21	1.335		HGNC	p.C206Y	rs767353558	EPB41L3		SNV							ENST00000341928	protein_coding	getma.org/?cm=var&var=hg19,18,5434109,C,T&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF20,Pfam_domain:PF00373,Gene3D:1.20.80.10,PIRSF_domain:PIRSF002304,SMART_domains:SM00295,Superfamily_domains:SSF47031		C/Y		T	low	958/4706	1.50E-05	getma.org/?cm=msa&ty=f&p=E41L3_HUMAN&rb=192&re=301&var=C206Y	deleterious(0)	J3QS55_HUMAN,J3QRQ6_HUMAN,J3QR33_HUMAN,J3QKY2_HUMAN,J3QKK4_HUMAN,J3KS70_HUMAN,J3KRD1_HUMAN			YES	EPB41L3,missense_variant,p.Cys206Tyr,ENST00000341928,NM_012307.3;EPB41L3,missense_variant,p.Cys206Tyr,ENST00000342933,;EPB41L3,missense_variant,p.Cys206Tyr,ENST00000540638,NM_001281534.1;EPB41L3,missense_variant,p.Cys206Tyr,ENST00000544123,NM_001281533.1;EPB41L3,missense_variant,p.Cys206Tyr,ENST00000400111,;EPB41L3,intron_variant,,ENST00000584670,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000542652,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000545076,;EPB41L3,non_coding_transcript_exon_variant,,ENST00000581757,;EPB41L3,upstream_gene_variant,,ENST00000578432,;							MODERATE	617/3264	C206Y	E41L3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000343158	8.24E-06	CCDS11838.1			1	
FBXO15	0	LGGM	GRCh37	18	71749202	71749202	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000419743.2:c.1223G>A	p.Gly408Asp	p.G408D	ENST00000419743	NM_001142958.1	408	gGc/gAc	0	1	1	UPI00003CF23D	0	NA	ENST00000419743		ENSG00000141665	13617		24	2.3		HGNC	p.G408D		FBXO15		SNV							ENST00000419743	protein_coding	getma.org/?cm=var&var=hg19,18,71749202,C,T&fts=all		hmmpanther:PTHR20995:SF16,hmmpanther:PTHR20995		G/D		T	medium	1303/1708		getma.org/?cm=msa&ty=f&p=FBX15_HUMAN&rb=245&re=444&var=G408D	deleterious(0.01)	J3QRE7_HUMAN			YES	FBXO15,missense_variant,p.Gly332Asp,ENST00000269500,NM_152676.2;FBXO15,missense_variant,p.Gly408Asp,ENST00000419743,NM_001142958.1;FBXO15,missense_variant,p.Gly77Asp,ENST00000580088,;FBXO15,non_coding_transcript_exon_variant,,ENST00000580806,;FBXO15,non_coding_transcript_exon_variant,,ENST00000577575,;FBXO15,upstream_gene_variant,,ENST00000579108,;FBXO15,3_prime_UTR_variant,,ENST00000583443,;FBXO15,3_prime_UTR_variant,,ENST00000581214,;FBXO15,3_prime_UTR_variant,,ENST00000578399,;FBXO15,non_coding_transcript_exon_variant,,ENST00000584425,;							MODERATE	1223/1533	G408D	FBX15_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000393154		CCDS45884.1			1	
PXDN	0	LGGM	GRCh37	2	1652182	1652182	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	4	.	.	ENST00000252804.4:c.3370G>T	p.Val1124Leu	p.V1124L	ENST00000252804	NM_012293.1	1124	Gtg/Ttg	0	1	1	UPI00001C1DC2	0	getma.org/pdb.php?prot=PXDN_HUMAN&from=741&to=1289&var=V1124L	ENST00000252804		ENSG00000130508	14966		40	1.32		HGNC	p.V1124L		PXDN		SNV			1				ENST00000252804	protein_coding	getma.org/?cm=var&var=hg19,2,1652182,C,A&fts=all		PROSITE_profiles:PS50292,hmmpanther:PTHR11475:SF48,hmmpanther:PTHR11475,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		V/L		A	low	3421/6808		getma.org/?cm=msa&ty=f&p=PXDN_HUMAN&rb=741&re=1289&var=V1124L	deleterious(0.01)				YES	PXDN,missense_variant,p.Val1124Leu,ENST00000252804,NM_012293.1;PXDN,downstream_gene_variant,,ENST00000433670,;PXDN,upstream_gene_variant,,ENST00000477093,;PXDN,downstream_gene_variant,,ENST00000465809,;PXDN,intron_variant,,ENST00000478155,;PXDN,downstream_gene_variant,,ENST00000493779,;PXDN,upstream_gene_variant,,ENST00000453308,;							MODERATE	3370/4440	V1124L	PXDN_HUMAN			Transcript		benign(0.259)	.	ENSP00000252804		CCDS46221.1			1	
NARS	0	LGGM	GRCh37	18	55274828	55274828	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	4	.	.	ENST00000256854.5:c.649G>A	p.Asp217Asn	p.D217N	ENST00000256854	NM_004539.3	217	Gac/Aac	0	1	1	UPI00001365E8	0	getma.org/pdb.php?prot=SYNC_HUMAN&from=209&to=224&var=D217N	ENST00000256854		ENSG00000134440	7643		40	2.52		HGNC	p.D217N		NARS		SNV							ENST00000256854	protein_coding	getma.org/?cm=var&var=hg19,18,55274828,C,T&fts=all		hmmpanther:PTHR22594,hmmpanther:PTHR22594:SF16,TIGRFAM_domain:TIGR00457		D/N		T	medium	1105/3099		getma.org/?cm=msa&ty=f&p=SYNC_HUMAN&rb=179&re=254&var=D217N	deleterious(0.04)	K7EPK2_HUMAN,K7EMQ6_HUMAN			YES	NARS,missense_variant,p.Asp217Asn,ENST00000256854,NM_004539.3;NARS,intron_variant,,ENST00000423481,;NARS,downstream_gene_variant,,ENST00000587675,;NARS,downstream_gene_variant,,ENST00000591599,;NARS,downstream_gene_variant,,ENST00000588661,;NARS,downstream_gene_variant,,ENST00000587194,;NARS,3_prime_UTR_variant,,ENST00000540592,;NARS,non_coding_transcript_exon_variant,,ENST00000411676,;NARS,intron_variant,,ENST00000586807,;NARS,upstream_gene_variant,,ENST00000589314,;NARS,upstream_gene_variant,,ENST00000589001,;							MODERATE	649/1647	D217N	SYNC_HUMAN			Transcript		benign(0.202)	.	ENSP00000256854		CCDS32837.1			1	
PRLR	0	LGGM	GRCh37	5	35065580	35065580	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	4	.	.	ENST00000382002.5:c.1480C>T	p.Leu494=	p.L494=	ENST00000382002	NM_000949.5	494	Ctg/Ttg	0	1	1	UPI0000132234	0		ENST00000382002		ENSG00000113494	9446		62			HGNC	p.L494L		PRLR		SNV			1				ENST00000382002	protein_coding			hmmpanther:PTHR23036:SF86,hmmpanther:PTHR23036		L		A		1907/11680				D6RD41_HUMAN,D6RC67_HUMAN,D6RAN9_HUMAN,D6R9V7_HUMAN,D6R9P5_HUMAN			YES	PRLR,synonymous_variant,p.=,ENST00000382002,NM_000949.5;PRLR,synonymous_variant,p.=,ENST00000342362,NM_001204314.1;PRLR,synonymous_variant,p.=,ENST00000511486,;PRLR,intron_variant,,ENST00000231423,NM_001204316.1;PRLR,intron_variant,,ENST00000513753,NM_001204317.1;PRLR,intron_variant,,ENST00000348262,NM_001204318.1;PRLR,intron_variant,,ENST00000310101,NM_001204315.1;PRLR,intron_variant,,ENST00000397391,;PRLR,intron_variant,,ENST00000542609,;PRLR,downstream_gene_variant,,ENST00000509934,;PRLR,3_prime_UTR_variant,,ENST00000508107,;PRLR,intron_variant,,ENST00000509140,;PRLR,intron_variant,,ENST00000514088,;							LOW	1480/1869		PRLR_HUMAN			Transcript			.	ENSP00000371432		CCDS3909.1			1	
TRIM55	0	LGGM	GRCh37	8	67040692	67040692	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	57	4	.	.	ENST00000315962.4:c.322T>G	p.Tyr108Asp	p.Y108D	ENST00000315962	NM_184085.1	108	Tac/Gac	0	1	1	UPI00001CE3B7	0	NA	ENST00000315962		ENSG00000147573	14215		61	2.74		HGNC	p.Y108D		TRIM55		SNV							ENST00000276573	protein_coding	getma.org/?cm=var&var=hg19,8,67040692,T,G&fts=all		Gene3D:3.30.40.10,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF318,Superfamily_domains:SSF57850		Y/D		G	medium	695/2912		getma.org/?cm=msa&ty=f&p=TRI55_HUMAN&rb=84&re=118&var=Y108D	deleterious(0)				YES	TRIM55,missense_variant,p.Tyr108Asp,ENST00000315962,NM_184085.1;TRIM55,missense_variant,p.Tyr108Asp,ENST00000353317,NM_184086.1;TRIM55,missense_variant,p.Tyr108Asp,ENST00000276573,NM_033058.2;TRIM55,missense_variant,p.Tyr108Asp,ENST00000350034,NM_184087.1;							MODERATE	322/1647	Y108D	TRI55_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000323913		CCDS6184.1			1	
MTOR	0	LGGM	GRCh37	1	11303356	11303356	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	4	.	.	ENST00000361445.4:c.1227T>C	p.Asp409=	p.D409=	ENST00000361445	NM_004958.3	409	gaT/gaC	0	1	1	UPI000012ABD3	0		ENST00000361445		ENSG00000198793	3942		26			HGNC	p.D409D		MTOR		SNV			1				ENST00000361445	protein_coding			hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF63,Gene3D:1.25.10.10,Superfamily_domains:SSF48371,Superfamily_domains:SSF48371		D		G		1304/8677				Q96QW8_HUMAN,B1AKQ2_HUMAN,B1AKP8_HUMAN			YES	MTOR,splice_region_variant,p.=,ENST00000361445,NM_004958.3;							LOW	1227/7650		MTOR_HUMAN			Transcript			.	ENSP00000354558		CCDS127.1			1	
USP34	0	LGGM	GRCh37	2	61463362	61463362	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000398571.2:c.6852G>A	p.Trp2284Ter	p.W2284*	ENST00000398571	NM_014709.3	2284	tgG/tgA	0	1	1	UPI0000410E09	0	NA	ENST00000398571		ENSG00000115464	20066		24	0		HGNC	p.W2284X		USP34		SNV							ENST00000398571	protein_coding	getma.org/?cm=var&var=hg19,2,61463362,C,T&fts=all		hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF97		W/*		T	NA	6929/11357		NA					YES	USP34,stop_gained,p.Trp2284Ter,ENST00000398571,NM_014709.3;USP34,stop_gained,p.Trp44Ter,ENST00000411912,;USP34,stop_gained,p.Trp562Ter,ENST00000453734,;USP34,intron_variant,,ENST00000472706,;USP34,non_coding_transcript_exon_variant,,ENST00000463046,;							HIGH	6852/10641	W2284*	UBP34_HUMAN			Transcript			.	ENSP00000381577		CCDS42686.1			1	
USP36	0	LGGM	GRCh37	17	76798491	76798491	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	4	.	.	ENST00000542802.3:c.2937G>A	p.Arg979=	p.R979=	ENST00000542802		979	agG/agA	0	1	1	UPI00000398BB	0		ENST00000542802		ENSG00000055483	20062		12			HGNC	p.R584R		USP36		SNV							ENST00000449938	protein_coding			hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF409		R		T		3381/6063				K7ERC1_HUMAN,K7EQS0_HUMAN,K7EPT1_HUMAN,K7ELT3_HUMAN,K7EJI3_HUMAN			YES	USP36,synonymous_variant,p.=,ENST00000542802,;USP36,synonymous_variant,p.=,ENST00000312010,NM_025090.3;USP36,synonymous_variant,p.=,ENST00000449938,;USP36,upstream_gene_variant,,ENST00000592231,;USP36,upstream_gene_variant,,ENST00000588130,;USP36,synonymous_variant,p.=,ENST00000589225,;USP36,downstream_gene_variant,,ENST00000588086,;USP36,upstream_gene_variant,,ENST00000587010,;USP36,upstream_gene_variant,,ENST00000587379,;USP36,upstream_gene_variant,,ENST00000591052,;							LOW	2937/3372		UBP36_HUMAN			Transcript			.	ENSP00000441214		CCDS32755.1			1	
CSPG4	0	LGGM	GRCh37	15	75985443	75985443	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	4	.	.	ENST00000308508.5:c.220C>T	p.Leu74Phe	p.L74F	ENST00000308508	NM_001897.4	74	Ctc/Ttc	0	1	1	UPI00001AEEB6	0	getma.org/pdb.php?prot=CSPG4_HUMAN&from=55&to=178&var=L74F	ENST00000308508		ENSG00000173546	2466		10	2.21		HGNC	p.L74F		CSPG4		SNV							ENST00000308508	protein_coding	getma.org/?cm=var&var=hg19,15,75985443,G,A&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF49899,SMART_domains:SM00282,Gene3D:2.60.120.200,Pfam_domain:PF00054,hmmpanther:PTHR15036,hmmpanther:PTHR15036:SF11,PROSITE_profiles:PS50025		L/F		A	medium	313/8290		getma.org/?cm=msa&ty=f&p=CSPG4_HUMAN&rb=55&re=178&var=L74F	deleterious(0)				YES	CSPG4,missense_variant,p.Leu74Phe,ENST00000308508,NM_001897.4;							MODERATE	220/6969	L74F	CSPG4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000312506		CCDS10284.1			1	
CLOCK	0	LGGM	GRCh37	4	56315621	56315621	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	4	.	.	ENST00000309964.4:c.1391G>T	p.Arg464Met	p.R464M	ENST00000309964	NM_004898.3	464	aGg/aTg	0	1	1	UPI0000031303	0	NA	ENST00000309964		ENSG00000134852	2082		51	2.25		HGNC	p.R464M		CLOCK		SNV							ENST00000513440	protein_coding	getma.org/?cm=var&var=hg19,4,56315621,C,A&fts=all		hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF2		R/M		A	medium	1642/10304		getma.org/?cm=msa&ty=f&p=CLOCK_HUMAN&rb=396&re=844&var=R464M	deleterious(0)	C9JK03_HUMAN			YES	CLOCK,missense_variant,p.Arg464Met,ENST00000309964,NM_004898.3;CLOCK,missense_variant,p.Arg464Met,ENST00000381322,NM_001267843.1;CLOCK,missense_variant,p.Arg464Met,ENST00000513440,;TMEM165,intron_variant,,ENST00000608091,;TMEM165,intron_variant,,ENST00000506103,;CLOCK,upstream_gene_variant,,ENST00000511124,;CLOCK,downstream_gene_variant,,ENST00000506747,;							MODERATE	1391/2541	R464M	CLOCK_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000308741		CCDS3500.1			1	
CYB5R1	0	LGGM	GRCh37	1	202933822	202933822	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	4	.	.	ENST00000367249.4:c.477G>A	p.Gly159=	p.G159=	ENST00000367249	NM_016243.2	159	ggG/ggA	0	1	1	UPI0000037787	0		ENST00000367249		ENSG00000159348	13397		33			HGNC	p.G159G		CYB5R1		SNV							ENST00000367249	protein_coding			Gene3D:3.40.50.80,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF74,Superfamily_domains:SSF52343		G		T		552/1651							YES	CYB5R1,splice_region_variant,p.=,ENST00000367249,NM_016243.2;CYB5R1,splice_region_variant,p.=,ENST00000446185,;CYB5R1,splice_region_variant,,ENST00000482572,;CYB5R1,non_coding_transcript_exon_variant,,ENST00000497655,;CYB5R1,downstream_gene_variant,,ENST00000478009,;CYB5R1,downstream_gene_variant,,ENST00000473599,;CYB5R1,upstream_gene_variant,,ENST00000483915,;							LOW	477/918		NB5R1_HUMAN			Transcript			.	ENSP00000356218		CCDS1431.1			1	
POLD2	0	LGGM	GRCh37	7	44156462	44156462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	4	.	.	ENST00000406581.2:c.734G>T	p.Gly245Val	p.G245V	ENST00000406581	NM_001256879.1	245	gGc/gTc	0	1	1	UPI000004D0E7	0	getma.org/pdb.php?prot=DPOD2_HUMAN&from=196&to=412&var=G245V	ENST00000406581		ENSG00000106628	9176		12	3.69		HGNC	p.G245V		POLD2		SNV							ENST00000406581	protein_coding	getma.org/?cm=var&var=hg19,7,44156462,C,A&fts=all		Pfam_domain:PF04042,hmmpanther:PTHR10416,hmmpanther:PTHR10416:SF0		G/V		A	high	1384/2158		getma.org/?cm=msa&ty=f&p=DPOD2_HUMAN&rb=196&re=412&var=G245V	deleterious(0)	C9JLE1_HUMAN,C9J8Z7_HUMAN,C9IZD2_HUMAN,A4D2J4_HUMAN			YES	POLD2,missense_variant,p.Gly245Val,ENST00000406581,NM_001256879.1;POLD2,missense_variant,p.Gly245Val,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,missense_variant,p.Gly245Val,ENST00000223361,;POLD2,missense_variant,p.Gly163Val,ENST00000436844,;AEBP1,downstream_gene_variant,,ENST00000223357,NM_001129.4;AEBP1,downstream_gene_variant,,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000433715,;POLD2,downstream_gene_variant,,ENST00000456038,;POLD2,downstream_gene_variant,,ENST00000418438,;POLD2,upstream_gene_variant,,ENST00000436400,;AEBP1,downstream_gene_variant,,ENST00000413907,;AEBP1,downstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000463464,;POLD2,downstream_gene_variant,,ENST00000470867,;POLD2,downstream_gene_variant,,ENST00000464871,;POLD2,downstream_gene_variant,,ENST00000496539,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000467469,;POLD2,upstream_gene_variant,,ENST00000489883,;POLD2,downstream_gene_variant,,ENST00000461116,;							MODERATE	734/1410	G245V	DPOD2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386105		CCDS5477.1			1	
CRX	0	LGGM	GRCh37	19	48339545	48339545	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000221996.7:c.146G>A	p.Ser49Asn	p.S49N	ENST00000221996	NM_000554.4	49	aGc/aAc	0	1	1	UPI00001284E0	0	getma.org/pdb.php?prot=CRX_HUMAN&from=40&to=96&var=S49N	ENST00000221996		ENSG00000105392	2383		17	0.74		HGNC	p.S49N		CRX		SNV			1				ENST00000539067	protein_coding	getma.org/?cm=var&var=hg19,19,48339545,G,A&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF271,SMART_domains:SM00389,Superfamily_domains:SSF46689		S/N		A	neutral	352/4469		getma.org/?cm=msa&ty=f&p=CRX_HUMAN&rb=40&re=96&var=S49N	deleterious(0.02)	Q0QD45_HUMAN,H3BUU7_HUMAN,A4GUB7_HUMAN			YES	CRX,missense_variant,p.Ser49Asn,ENST00000221996,NM_000554.4;CRX,missense_variant,p.Ser49Asn,ENST00000539067,;CRX,missense_variant,p.Ser49Asn,ENST00000566686,;TPRX2P,intron_variant,,ENST00000535362,;CRX,non_coding_transcript_exon_variant,,ENST00000556527,;CRX,upstream_gene_variant,,ENST00000602001,;							MODERATE	146/900	S49N	CRX_HUMAN			Transcript		benign(0.008)	.	ENSP00000221996		CCDS12706.1			1	
TMEM204	0	LGGM	GRCh37	16	1584420	1584420	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	4	.	.	ENST00000566264.1:c.144C>T	p.Ser48=	p.S48=	ENST00000566264	NM_024600.5	48	tcC/tcT	0	1		UPI0000051E42	0		ENST00000253934		ENSG00000131634	14158		16			HGNC	p.S48S		TMEM204		SNV							ENST00000566264	protein_coding			hmmpanther:PTHR14627		S		T		595/1686								TMEM204,synonymous_variant,p.=,ENST00000566264,NM_024600.5;TMEM204,synonymous_variant,p.=,ENST00000253934,NM_001256541.1;IFT140,intron_variant,,ENST00000426508,NM_014714.3;IFT140,upstream_gene_variant,,ENST00000361339,;IFT140,intron_variant,,ENST00000565298,;IFT140,intron_variant,,ENST00000397417,;							LOW	144/681		TM204_HUMAN			Transcript			.	ENSP00000253934		CCDS42098.1			1	
NDST2	0	LGGM	GRCh37	10	75567693	75567693	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	4	.	.	ENST00000309979.6:c.454T>G	p.Trp152Gly	p.W152G	ENST00000309979		152	Tgg/Ggg	0	1		UPI00020658C4	0	NA	ENST00000299641		ENSG00000166507	7681		55	2.95		HGNC	p.W29G		NDST2		SNV							ENST00000299641	protein_coding	getma.org/?cm=var&var=hg19,10,75567693,A,C&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF36		W/G		C	medium	1056/3789		getma.org/?cm=msa&ty=f&p=NDST2_HUMAN&rb=24&re=514&var=W152G	deleterious(0.01)	J3KNC8_HUMAN,B4DVV6_HUMAN,B4DU70_HUMAN,B4DE98_HUMAN				NDST2,missense_variant,p.Trp29Gly,ENST00000299641,NM_003635.3;NDST2,missense_variant,p.Trp152Gly,ENST00000309979,;CAMK2G,downstream_gene_variant,,ENST00000423381,NM_001204492.1;CAMK2G,downstream_gene_variant,,ENST00000322680,NM_172170.4,NM_172171.2;CAMK2G,downstream_gene_variant,,ENST00000394762,;CAMK2G,downstream_gene_variant,,ENST00000322635,NM_172169.2;CAMK2G,downstream_gene_variant,,ENST00000351293,NM_001222.3,NM_172173.2;NDST2,upstream_gene_variant,,ENST00000429742,;NDST2,downstream_gene_variant,,ENST00000398701,;NDST2,downstream_gene_variant,,ENST00000465929,;NDST2,upstream_gene_variant,,ENST00000463410,;RP11-574K11.31,missense_variant,p.Trp152Gly,ENST00000603027,;RP11-574K11.31,upstream_gene_variant,,ENST00000603706,;							MODERATE	85/2283	W152G				Transcript		probably_damaging(0.981)	.	ENSP00000299641					1	
TEFM	0	LGGM	GRCh37	17	29231543	29231543	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	4	.	.	ENST00000581216.1:c.36G>A	p.Arg12=	p.R12=	ENST00000581216	NM_024683.3	12	agG/agA	0	1	1	UPI00000708D5	0		ENST00000581216		ENSG00000172171	26223		31			HGNC	p.R12R		TEFM		SNV							ENST00000581216	protein_coding			hmmpanther:PTHR21053:SF1,hmmpanther:PTHR21053		R		T		658/1891							YES	TEFM,synonymous_variant,p.=,ENST00000580840,;TEFM,synonymous_variant,p.=,ENST00000581216,NM_024683.3;ADAP2,upstream_gene_variant,,ENST00000583688,;TEFM,synonymous_variant,p.=,ENST00000306049,;TEFM,non_coding_transcript_exon_variant,,ENST00000541382,;							LOW	36/1083		TEFM_HUMAN			Transcript			.	ENSP00000462963		CCDS42291.1			1	
HTT	0	LGGM	GRCh37	4	3123043	3123043	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	4	.	.	ENST00000355072.5:c.1157C>T	p.Thr386Met	p.T386M	ENST00000355072	NM_002111.6	386	aCg/aTg	0	1	1	UPI000013D567	0	NA	ENST00000355072		ENSG00000197386	4851		25	1.415		HGNC	p.T386M	rs751024193	HTT		SNV			1				ENST00000355072	protein_coding	getma.org/?cm=var&var=hg19,4,3123043,C,T&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10170,hmmpanther:PTHR10170:SF10,Superfamily_domains:SSF48371		T/M		T	low	1302/13464		getma.org/?cm=msa&ty=f&p=HD_HUMAN&rb=1&re=414&var=T386M		D3DVR8_HUMAN,D2CTD8_HUMAN,D2CTD7_HUMAN,D2CTD4_HUMAN,D2CTD2_HUMAN			YES	HTT,missense_variant,p.Thr386Met,ENST00000355072,NM_002111.6;HTT,non_coding_transcript_exon_variant,,ENST00000506137,;HTT,upstream_gene_variant,,ENST00000512909,;	0.000116						MODERATE	1157/9429	T386M	HD_HUMAN			Transcript		possibly_damaging(0.738)	.	ENSP00000347184	8.27E-06	CCDS43206.1			1	
ADAMTSL1	0	LGGM	GRCh37	9	18639276	18639276	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	4	.	.	ENST00000380548.4:c.701G>T	p.Gly234Val	p.G234V	ENST00000380548	NM_001040272.5	234	gGg/gTg	0	1	1	UPI000004FD83	0	getma.org/pdb.php?prot=ATL1_HUMAN&from=82&to=281&var=G234V	ENST00000380548		ENSG00000178031	14632		33	1.72		HGNC	p.G234V	COSM1283284,COSM1283283	ADAMTSL1		SNV						1,1	ENST00000380548	protein_coding	getma.org/?cm=var&var=hg19,9,18639276,G,T&fts=all		hmmpanther:PTHR13723:SF157,hmmpanther:PTHR13723		G/V		T	low	1040/8030		getma.org/?cm=msa&ty=f&p=ATL1_HUMAN&rb=82&re=281&var=G234V	deleterious(0)	H7BYE3_HUMAN			YES	ADAMTSL1,missense_variant,p.Gly234Val,ENST00000380548,NM_001040272.5;ADAMTSL1,missense_variant,p.Gly234Val,ENST00000276935,;ADAMTSL1,missense_variant,p.Gly234Val,ENST00000380566,;ADAMTSL1,missense_variant,p.Gly234Val,ENST00000327883,NM_052866.4;					1,1		MODERATE	701/5289	G234V	ATL1_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000369921		CCDS47954.1			1	
TRIM49	0	LGGM	GRCh37	11	89531508	89531508	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	4	.	.	ENST00000329758.1:c.1149T>C	p.Val383=	p.V383=	ENST00000329758	NM_020358.2	383	gtT/gtC	0	1	1	UPI000013431B	0		ENST00000329758		ENSG00000168930	13431		59			HGNC	p.V383V		TRIM49		SNV							ENST00000329758	protein_coding			PROSITE_profiles:PS50188,hmmpanther:PTHR24103:SF268,hmmpanther:PTHR24103,Pfam_domain:PF00622,SMART_domains:SM00449,Superfamily_domains:SSF49899		V		G		1478/2163				I1YAQ5_HUMAN			YES	TRIM49,synonymous_variant,p.=,ENST00000329758,NM_020358.2;TRIM49,synonymous_variant,p.=,ENST00000532501,;							LOW	1149/1359		TRI49_HUMAN			Transcript			.	ENSP00000327604		CCDS8287.1			1	
PLXNA1	0	LGGM	GRCh37	3	126734115	126734115	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000393409.2:c.2966G>A	p.Gly989Asp	p.G989D	ENST00000393409	NM_032242.3	989	gGc/gAc	0	1	1	UPI00001A7983	0	getma.org/pdb.php?prot=PLXA1_HUMAN&from=961&to=1044&var=G989D	ENST00000393409		ENSG00000114554	9099		24	2.24		HGNC	p.G966D		PLXNA1		SNV							ENST00000251772	protein_coding	getma.org/?cm=var&var=hg19,3,126734115,G,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35,Gene3D:2.60.40.10,Pfam_domain:PF01833,SMART_domains:SM00429,Superfamily_domains:SSF81296		G/D		A	medium	2966/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=961&re=1044&var=G989D	deleterious(0)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Gly989Asp,ENST00000393409,NM_032242.3;PLXNA1,missense_variant,p.Gly966Asp,ENST00000251772,;							MODERATE	2966/5691	G989D	PLXA1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000377061		CCDS33847.2			1	
PDCD1LG2	0	LGGM	GRCh37	9	5534851	5534851	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	4	.	.	ENST00000397747.3:c.162A>G	p.Ala54=	p.A54=	ENST00000397747	NM_025239.3	54	gcA/gcG	0	1	1	UPI0000050EF2	0		ENST00000397747		ENSG00000197646	18731		49			HGNC	p.A54A		PDCD1LG2		SNV							ENST00000397745	protein_coding			hmmpanther:PTHR25462,hmmpanther:PTHR25462:SF56,Gene3D:2.60.40.10,Pfam_domain:PF13895,SMART_domains:SM00409,Superfamily_domains:SSF48726		A		G		410/2363							YES	PDCD1LG2,synonymous_variant,p.=,ENST00000397747,NM_025239.3;PDCD1LG2,synonymous_variant,p.=,ENST00000397745,;							LOW	162/822		PD1L2_HUMAN			Transcript			.	ENSP00000380855		CCDS6465.1			1	
PLEKHG6	0	LGGM	GRCh37	12	6424289	6424289	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000396988.3:c.413G>A	p.Gly138Asp	p.G138D	ENST00000396988	NM_001144856.1	138	gGc/gAc	0	1		UPI000013EFF6	0	NA	ENST00000011684		ENSG00000008323	25562		24	0.345		HGNC	p.G138D		PLEKHG6		SNV							ENST00000011684	protein_coding	getma.org/?cm=var&var=hg19,12,6424289,G,A&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF13		G/D		A	neutral	561/2881		getma.org/?cm=msa&ty=f&p=PKHG6_HUMAN&rb=130&re=164&var=G138D	tolerated(0.27)					PLEKHG6,missense_variant,p.Gly106Asp,ENST00000449001,NM_001144857.1;PLEKHG6,missense_variant,p.Gly138Asp,ENST00000396988,NM_001144856.1;PLEKHG6,missense_variant,p.Gly138Asp,ENST00000011684,NM_018173.3;PLEKHG6,missense_variant,p.Gly138Asp,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,;							MODERATE	413/2373	G138D	PKHG6_HUMAN			Transcript		benign(0.001)	.	ENSP00000011684		CCDS8541.1			1	
NXNL2	0	LGGM	GRCh37	9	91159414	91159414	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	2	4	.	.	ENST00000375854.3:c.423C>T	p.Phe141=	p.F141=	ENST00000375854	NM_001161625.1	141	ttC/ttT	0	1	1	UPI00004588E9	0		ENST00000375854		ENSG00000130045	30482		6			HGNC	p.F141F		NXNL2		SNV							ENST00000375854	protein_coding			Gene3D:3.40.30.10,hmmpanther:PTHR13871,hmmpanther:PTHR13871:SF24,Superfamily_domains:SSF52833		F		T		757/805							YES	NXNL2,synonymous_variant,p.=,ENST00000375854,NM_001161625.1;NXNL2,intron_variant,,ENST00000375855,NM_145283.2;NXNL2,non_coding_transcript_exon_variant,,ENST00000487646,;NXNL2,intron_variant,,ENST00000478686,;							LOW	423/471		NXNL2_HUMAN			Transcript			.	ENSP00000365014		CCDS55325.1			1	
GOLGA8F	0	LGGM	GRCh37	15	28630278	28630278	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	4	.	.	ENST00000532622.2:c.921T>A	p.Pro307=	p.P307=	ENST00000532622		307	ccT/ccA	0	1		UPI000041A898	0		ENST00000526619		ENSG00000153684	32378		33			HGNC	p.P89P		GOLGA8F		SNV							ENST00000450328	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10881,Pfam_domain:PF15070		P		A		1282/5281								GOLGA8F,synonymous_variant,p.=,ENST00000526619,;GOLGA8F,synonymous_variant,p.=,ENST00000337838,;GOLGA8F,synonymous_variant,p.=,ENST00000450328,;GOLGA8F,synonymous_variant,p.=,ENST00000532622,;AC091304.1,upstream_gene_variant,,ENST00000408123,;RN7SL238P,upstream_gene_variant,,ENST00000465782,;GOLGA8F,downstream_gene_variant,,ENST00000568250,;GOLGA8F,downstream_gene_variant,,ENST00000568913,;GOLGA8F,downstream_gene_variant,,ENST00000565126,;GOLGA8F,downstream_gene_variant,,ENST00000564114,;							LOW	267/1305		GOG8F_HUMAN			Transcript			.	ENSP00000456138					1	
ARL6IP5	0	LGGM	GRCh37	3	69134289	69134289	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	4	.	.	ENST00000273258.3:c.91A>G	p.Lys31Glu	p.K31E	ENST00000273258	NM_006407.3	31	Aaa/Gaa	0	1	1	UPI0000074031	0	NA	ENST00000273258		ENSG00000144746	16937		64	2.655		HGNC	p.K31E		ARL6IP5		SNV							ENST00000273258	protein_coding	getma.org/?cm=var&var=hg19,3,69134289,A,G&fts=all		Pfam_domain:PF03208,hmmpanther:PTHR12859,hmmpanther:PTHR12859:SF2		K/E		G	medium	195/2101		getma.org/?cm=msa&ty=f&p=PRAF3_HUMAN&rb=1&re=156&var=K31E	deleterious(0)	F8WF90_HUMAN,B4DZZ0_HUMAN			YES	ARL6IP5,missense_variant,p.Lys31Glu,ENST00000273258,NM_006407.3;ARL6IP5,missense_variant,p.Lys31Glu,ENST00000478935,;UBA3,upstream_gene_variant,,ENST00000361055,NM_003968.3;UBA3,upstream_gene_variant,,ENST00000349511,NM_198195.1;UBA3,upstream_gene_variant,,ENST00000415609,;UBA3,upstream_gene_variant,,ENST00000540295,;ARL6IP5,missense_variant,p.Lys31Glu,ENST00000484921,;ARL6IP5,missense_variant,p.Lys31Glu,ENST00000485444,;ARL6IP5,non_coding_transcript_exon_variant,,ENST00000470936,;UBA3,upstream_gene_variant,,ENST00000465627,;UBA3,upstream_gene_variant,,ENST00000461934,;UBA3,upstream_gene_variant,,ENST00000465108,;UBA3,upstream_gene_variant,,ENST00000485424,;UBA3,upstream_gene_variant,,ENST00000466763,;UBA3,upstream_gene_variant,,ENST00000493957,;UBA3,upstream_gene_variant,,ENST00000464605,;							MODERATE	91/567	K31E	PRAF3_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000273258		CCDS2912.1			1	
TNNI2	0	LGGM	GRCh37	11	1861645	1861645	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	4	.	.	ENST00000381906.1:c.28G>A	p.Ala10Thr	p.A10T	ENST00000381906	NM_001145829.1	10	Gcc/Acc	0	1		UPI0000001605	0	getma.org/pdb.php?prot=TNNI2_HUMAN&from=1&to=14&var=A10T	ENST00000252898		ENSG00000130598	11946		9	0.69		HGNC	p.A10T		TNNI2		SNV			1				ENST00000381905	protein_coding	getma.org/?cm=var&var=hg19,11,1861645,G,A&fts=all		hmmpanther:PTHR13738,hmmpanther:PTHR13738:SF2,Gene3D:1.20.5.350		A/T		A	neutral	28/678		getma.org/?cm=msa&ty=f&p=TNNI2_HUMAN&rb=1&re=44&var=A10T	tolerated(0.06)					TNNI2,missense_variant,p.Ala10Thr,ENST00000381906,NM_001145829.1;TNNI2,missense_variant,p.Ala10Thr,ENST00000381911,NM_003282.3;TNNI2,missense_variant,p.Ala10Thr,ENST00000381905,NM_001145841.1;TNNI2,missense_variant,p.Ala10Thr,ENST00000252898,;SYT8,downstream_gene_variant,,ENST00000535046,;SYT8,downstream_gene_variant,,ENST00000341958,;SYT8,downstream_gene_variant,,ENST00000381968,NM_138567.3;SYT8,downstream_gene_variant,,ENST00000381978,;SYT8,downstream_gene_variant,,ENST00000436964,;SYT8,downstream_gene_variant,,ENST00000430303,;SYT8,downstream_gene_variant,,ENST00000417052,;SYT8,downstream_gene_variant,,ENST00000483280,;TNNI2,non_coding_transcript_exon_variant,,ENST00000468473,;SYT8,downstream_gene_variant,,ENST00000490707,;SYT8,downstream_gene_variant,,ENST00000479276,;SYT8,downstream_gene_variant,,ENST00000479089,;SYT8,downstream_gene_variant,,ENST00000464897,;SYT8,downstream_gene_variant,,ENST00000424556,;SYT8,downstream_gene_variant,,ENST00000475245,;SYT8,downstream_gene_variant,,ENST00000494431,;SYT8,downstream_gene_variant,,ENST00000482118,;							MODERATE	28/549	A10T	TNNI2_HUMAN			Transcript		benign(0.023)	.	ENSP00000252898		CCDS31333.1			1	
TRAIP	0	LGGM	GRCh37	3	49879912	49879912	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	4	.	.	ENST00000331456.2:c.477C>T	p.Leu159=	p.L159=	ENST00000331456	NM_005879.2	159	ctC/ctT	0	1	1	UPI000006FE67	0		ENST00000331456		ENSG00000183763	30764		29			HGNC	p.L159L		TRAIP		SNV							ENST00000331456	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR22937,hmmpanther:PTHR22937:SF6,Superfamily_domains:SSF46579		L		A		591/2026				A4UCT7_HUMAN			YES	TRAIP,synonymous_variant,p.=,ENST00000331456,NM_005879.2;TRAIP,synonymous_variant,p.=,ENST00000482582,;TRAIP,intron_variant,,ENST00000469027,;TRAIP,downstream_gene_variant,,ENST00000482243,;TRAIP,downstream_gene_variant,,ENST00000473863,;TRAIP,intron_variant,,ENST00000473195,;TRAIP,downstream_gene_variant,,ENST00000477546,;TRAIP,downstream_gene_variant,,ENST00000489948,;TRAIP,upstream_gene_variant,,ENST00000475495,;TRAIP,downstream_gene_variant,,ENST00000488860,;							LOW	477/1410		TRAIP_HUMAN			Transcript			.	ENSP00000328203		CCDS2806.1			1	
SALL2	0	LGGM	GRCh37	14	21993417	21993417	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000327430.3:c.445G>A	p.Ala149Thr	p.A149T	ENST00000327430	NM_005407.1	149	Gca/Aca	0	1	1	UPI00001AF54D	0	NA	ENST00000327430		ENSG00000165821	10526		21	1.5		HGNC	p.A147T		SALL2		SNV			1				ENST00000537235	protein_coding	getma.org/?cm=var&var=hg19,14,21993417,C,T&fts=all		hmmpanther:PTHR23233:SF15,hmmpanther:PTHR23233		A/T		T	low	740/4925		getma.org/?cm=msa&ty=f&p=SALL2_HUMAN&rb=1&re=172&var=A149T	tolerated(0.11)	F5H1G6_HUMAN			YES	SALL2,missense_variant,p.Ala149Thr,ENST00000327430,NM_005407.1;SALL2,missense_variant,p.Ala147Thr,ENST00000537235,;SALL2,missense_variant,p.Ala87Thr,ENST00000541965,;SALL2,intron_variant,,ENST00000450879,;SALL2,intron_variant,,ENST00000546363,;SALL2,intron_variant,,ENST00000317492,;SALL2,intron_variant,,ENST00000538754,;AE000658.22,downstream_gene_variant,,ENST00000535893,;							MODERATE	445/3024	A149T	SALL2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000333537		CCDS32045.1			1	
HSPA12B	0	LGGM	GRCh37	20	3722974	3722974	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000254963.2:c.185T>C	p.Val62Ala	p.V62A	ENST00000254963	NM_052970.4	62	gTg/gCg	0	1	1	UPI00001285E5	0	NA	ENST00000254963		ENSG00000132622	16193		21	2.455		HGNC	p.V62A		HSPA12B		SNV							ENST00000254963	protein_coding	getma.org/?cm=var&var=hg19,20,3722974,T,C&fts=all		Gene3D:3.30.420.40,hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF39,Superfamily_domains:SSF53067		V/A		C	medium	330/3151		getma.org/?cm=msa&ty=f&p=HS12B_HUMAN&rb=1&re=200&var=V62A	deleterious(0)	Q5JX83_HUMAN,B7ZLP2_HUMAN,B4DLR4_HUMAN			YES	HSPA12B,missense_variant,p.Val62Ala,ENST00000254963,NM_052970.4,NM_001197327.1;HSPA12B,5_prime_UTR_variant,,ENST00000399701,;HSPA12B,intron_variant,,ENST00000542646,;							MODERATE	185/2061	V62A	HS12B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000254963		CCDS13061.1			1	
DEGS2	0	LGGM	GRCh37	14	100615571	100615571	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	4	.	.	ENST00000305631.5:c.559G>A	p.Val187Met	p.V187M	ENST00000305631	NM_206918.2	187	Gtg/Atg	0	1	1	UPI000013EA78	0	NA	ENST00000305631		ENSG00000168350	20113		31	1.32		HGNC	p.V187M		DEGS2		SNV							ENST00000305631	protein_coding	getma.org/?cm=var&var=hg19,14,100615571,C,T&fts=all		hmmpanther:PTHR12879:SF1,hmmpanther:PTHR12879,Pfam_domain:PF00487,PIRSF_domain:PIRSF017228		V/M		T	low	1135/1890		getma.org/?cm=msa&ty=f&p=DEGS2_HUMAN&rb=64&re=295&var=V187M	tolerated(0.11)				YES	DEGS2,missense_variant,p.Val187Met,ENST00000305631,NM_206918.2;DEGS2,intron_variant,,ENST00000553834,;EVL,downstream_gene_variant,,ENST00000402714,;EVL,downstream_gene_variant,,ENST00000392920,NM_016337.2;DEGS2,non_coding_transcript_exon_variant,,ENST00000557117,;EVL,downstream_gene_variant,,ENST00000555848,;							MODERATE	559/972	V187M	DEGS2_HUMAN			Transcript		benign(0.093)	.	ENSP00000307126		CCDS9956.1			1	
PLEC	0	LGGM	GRCh37	8	144991903	144991903	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	4	.	.	ENST00000322810.4:c.12497T>C	p.Met4166Thr	p.M4166T	ENST00000322810	NM_201380.2	4166	aTg/aCg	0	1	1	UPI0000233FCD	0	getma.org/pdb.php?prot=PLEC_HUMAN&from=4146&to=4176&var=M4166T	ENST00000322810		ENSG00000178209	9069		38	2.695		HGNC	p.M3997T		PLEC		SNV			1				ENST00000398774	protein_coding	getma.org/?cm=var&var=hg19,8,144991903,A,G&fts=all		Gene3D:3.90.1290.10,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF247,SMART_domains:SM00250,Superfamily_domains:SSF75399		M/T		G	medium	12667/15249		getma.org/?cm=msa&ty=f&p=PLEC_HUMAN&rb=4146&re=4176&var=M4166T		Q96IE3_HUMAN,E9PQ28_HUMAN			YES	PLEC,missense_variant,p.Met4166Thr,ENST00000322810,NM_201380.2;PLEC,missense_variant,p.Met4029Thr,ENST00000345136,NM_201384.1;PLEC,missense_variant,p.Met4056Thr,ENST00000436759,NM_000445.3;PLEC,missense_variant,p.Met4007Thr,ENST00000354958,NM_201379.1;PLEC,missense_variant,p.Met4029Thr,ENST00000354589,NM_201382.2;PLEC,missense_variant,p.Met4033Thr,ENST00000357649,NM_201383.1;PLEC,missense_variant,p.Met4015Thr,ENST00000356346,NM_201378.2;PLEC,missense_variant,p.Met3997Thr,ENST00000398774,NM_201381.1;PLEC,missense_variant,p.Met4052Thr,ENST00000527096,;PLEC,downstream_gene_variant,,ENST00000527303,;							MODERATE	12497/14055	M4166T	PLEC_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000323856		CCDS43772.1			1	
MBD6	0	LGGM	GRCh37	12	57922058	57922058	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	4	.	.	ENST00000355673.3:c.2535C>T	p.Val845=	p.V845=	ENST00000355673	NM_052897.3	845	gtC/gtT	0	1	1	UPI000012ED13	0		ENST00000355673		ENSG00000166987	20445		16			HGNC	p.V845V		MBD6		SNV							ENST00000355673	protein_coding			hmmpanther:PTHR16112		V		T		2891/4282				F8VZD7_HUMAN,F8VVK7_HUMAN,F8VU14_HUMAN,F8VPC4_HUMAN,F8VNX1_HUMAN			YES	MBD6,synonymous_variant,p.=,ENST00000355673,NM_052897.3;MBD6,synonymous_variant,p.=,ENST00000431731,;MBD6,synonymous_variant,p.=,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,synonymous_variant,p.=,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,;							LOW	2535/3012		MBD6_HUMAN			Transcript			.	ENSP00000347896		CCDS8944.1			1	
GREB1L	0	LGGM	GRCh37	18	18975500	18975500	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	4	.	.	ENST00000580732.2:c.510T>C	p.Asp170=	p.D170=	ENST00000580732		170	gaT/gaC	0	1		UPI0001642876	0		ENST00000424526		ENSG00000141449	31042		79			HGNC	p.D170D		GREB1L		SNV							ENST00000580732	protein_coding			hmmpanther:PTHR15720,hmmpanther:PTHR15720:SF12		D		C		781/6052								GREB1L,synonymous_variant,p.=,ENST00000580732,;GREB1L,synonymous_variant,p.=,ENST00000424526,NM_001142966.1;GREB1L,synonymous_variant,p.=,ENST00000400483,;GREB1L,synonymous_variant,p.=,ENST00000269218,;GREB1L,synonymous_variant,p.=,ENST00000431264,;RP11-296E23.1,intron_variant,,ENST00000584611,;GREB1L,non_coding_transcript_exon_variant,,ENST00000578368,;GREB1L,non_coding_transcript_exon_variant,,ENST00000584446,;							LOW	510/5772		GRB1L_HUMAN			Transcript			.	ENSP00000412060		CCDS45836.1			1	
ACTL8	0	LGGM	GRCh37	1	18149767	18149767	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	4	.	.	ENST00000375406.1:c.264C>T	p.Asn88=	p.N88=	ENST00000375406	NM_030812.2	88	aaC/aaT	0	1	1	UPI000007008F	0		ENST00000375406		ENSG00000117148	24018		29			HGNC	p.N88N		ACTL8		SNV							ENST00000375406	protein_coding			Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF169,SMART_domains:SM00268,Superfamily_domains:SSF53067		N		T		480/1861							YES	ACTL8,synonymous_variant,p.=,ENST00000375406,NM_030812.2;							LOW	264/1101		ACTL8_HUMAN			Transcript			.	ENSP00000364555		CCDS183.1			1	
DPY19L4	0	LGGM	GRCh37	8	95750608	95750608	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	4	.	.	ENST00000414645.2:c.264G>A	p.Arg88=	p.R88=	ENST00000414645	NM_181787.2	88	cgG/cgA	0	1	1	UPI00001A9D7A	0		ENST00000414645		ENSG00000156162	27829		36			HGNC	p.R59R		DPY19L4		SNV							ENST00000519176	protein_coding			hmmpanther:PTHR31488:SF2,hmmpanther:PTHR31488,Pfam_domain:PF10034		R		A		363/6197							YES	DPY19L4,synonymous_variant,p.=,ENST00000414645,NM_181787.2;DPY19L4,synonymous_variant,p.=,ENST00000519176,;DPY19L4,synonymous_variant,p.=,ENST00000519353,;DPY19L4,intron_variant,,ENST00000522422,;DPY19L4,upstream_gene_variant,,ENST00000523020,;DPY19L4,upstream_gene_variant,,ENST00000521525,;DPY19L4,3_prime_UTR_variant,,ENST00000520774,;							LOW	264/2172		D19L4_HUMAN			Transcript			.	ENSP00000389630		CCDS34924.1			1	
SPTBN4	0	LGGM	GRCh37	19	41008804	41008804	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	4	.	.	ENST00000352632.3:c.1326G>A	p.Glu442=	p.E442=	ENST00000352632		442	gaG/gaA	0	1	1	UPI0000135DBB	0		ENST00000352632		ENSG00000160460	14896		39			HGNC	p.E442E		SPTBN4		SNV							ENST00000595535	protein_coding			hmmpanther:PTHR11915:SF232,hmmpanther:PTHR11915,Gene3D:1.20.58.60,Pfam_domain:PF00435,PIRSF_domain:PIRSF002297,SMART_domains:SM00150,Superfamily_domains:SSF46966		E		A		1412/8676							YES	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,;							LOW	1326/7695		SPTN4_HUMAN			Transcript			.	ENSP00000263373		CCDS12559.1			1	
RHD	0	LGGM	GRCh37	1	25599055	25599055	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	4	.	.	ENST00000328664.4:c.17C>A	p.Pro6Gln	p.P6Q	ENST00000328664	NM_016124.3	6	cCg/cAg	0	1	1	UPI0000246EA2	0	NA	ENST00000328664		ENSG00000187010	10009		16	0.745		HGNC	p.P6Q		RHD		SNV			1				ENST00000568195	protein_coding	getma.org/?cm=var&var=hg19,1,25599055,C,A&fts=all		hmmpanther:PTHR11883:SF24,hmmpanther:PTHR11883		P/Q		A	neutral	172/2930		getma.org/?cm=msa&ty=f&p=RHD_HUMAN&rb=1&re=44&var=P6Q	tolerated(0.16)	T2DL33_HUMAN,Q9UEC7_HUMAN,Q9UDZ3_HUMAN,Q8NFY2_HUMAN,Q6A1H1_HUMAN,Q5NDM5_HUMAN,Q49IM6_HUMAN,P78522_HUMAN,I2HA01_HUMAN,I2HA00_HUMAN,I0CKG6_HUMAN,G0TQY3_HUMAN,E7BAS5_HUMAN,D8MJ86_HUMAN,D8MJ84_HUMAN,D2CRH1_HUMAN,B4F4S7_HUMAN,B4F4S0_HUMAN,B2ZGQ0_HUMAN,A9P3T3_HUMAN,A7Y8S3_HUMAN,A0PFK1_HUMAN			YES	RHD,missense_variant,p.Pro6Gln,ENST00000328664,NM_016124.3,NM_001282867.1;RHD,missense_variant,p.Pro6Gln,ENST00000423810,NM_001282872.1;RHD,missense_variant,p.Pro6Gln,ENST00000342055,NM_001282871.1;RHD,missense_variant,p.Pro6Gln,ENST00000568195,NM_001282870.1;RHD,missense_variant,p.Pro6Gln,ENST00000357542,NM_001282869.1;RHD,missense_variant,p.Pro6Gln,ENST00000417538,NM_001282868.1;RHD,missense_variant,p.Pro6Gln,ENST00000454452,NM_001127691.1;C1orf63,intron_variant,,ENST00000568996,;C1orf63,intron_variant,,ENST00000561867,;C1orf63,upstream_gene_variant,,ENST00000568701,;RHD,non_coding_transcript_exon_variant,,ENST00000423253,;C1orf63,upstream_gene_variant,,ENST00000450820,;RHD,non_coding_transcript_exon_variant,,ENST00000564398,;C1orf63,intron_variant,,ENST00000473314,;							MODERATE	17/1254	P6Q	RHD_HUMAN			Transcript		possibly_damaging(0.637)	.	ENSP00000331871		CCDS262.1			1	
NPAP1	0	LGGM	GRCh37	15	24921605	24921605	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	4	.	.	ENST00000329468.2:c.591C>T	p.Asp197=	p.D197=	ENST00000329468	NM_018958.2	197	gaC/gaT	0	1	1	UPI00001AFA1B	0		ENST00000329468		ENSG00000185823	1190		18			HGNC	p.D197D	rs371279086,COSM3969035	NPAP1	0.000193	SNV	T:0					0,1	ENST00000329468	protein_coding		T:0	hmmpanther:PTHR23193,hmmpanther:PTHR23193:SF15,Pfam_domain:PF15229		D	T:0.0001	T		1065/8053	3.06E-05				T:0	T:0	YES	NPAP1,synonymous_variant,p.=,ENST00000329468,NM_018958.2;		T:0.0002			0,1		LOW	591/3471		NPAP1_HUMAN		T:0	Transcript			.	ENSP00000333735	4.12E-05	CCDS10015.1		T:0.001	1	
GCOM1	0	LGGM	GRCh37	15	57953727	57953727	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000267853.5:c.1199G>A	p.Gly400Glu	p.G400E	ENST00000267853		400	gGa/gAa	0	1		UPI0000375B72	0	NA	ENST00000380569		ENSG00000137878	26424		21	1.39		HGNC	p.G400E		GCOM1		SNV							ENST00000380568	protein_coding	getma.org/?cm=var&var=hg19,15,57953727,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23171,hmmpanther:PTHR23171:SF2,Pfam_domain:PF15328		G/E		A	low	1326/1846		getma.org/?cm=msa&ty=f&p=MYZAP_HUMAN&rb=201&re=400&var=G400E	tolerated(0.06)				YES	GCOM1,missense_variant,p.Gly400Glu,ENST00000574161,NM_001018100.3;MYZAP,missense_variant,p.Gly400Glu,ENST00000267853,;GCOM1,missense_variant,p.Gly400Glu,ENST00000587652,;GCOM1,missense_variant,p.Gly400Glu,ENST00000380569,NM_001018090.4;GCOM1,missense_variant,p.Gly400Glu,ENST00000380568,NM_001018091.4;GCOM1,missense_variant,p.Gly369Glu,ENST00000396180,;GCOM1,missense_variant,p.Gly331Glu,ENST00000380560,;MYZAP,missense_variant,p.Gly115Glu,ENST00000461709,;POLR2M,5_prime_UTR_variant,,ENST00000380563,;GCOM1,intron_variant,,ENST00000572390,NM_152451.6;MYZAP,intron_variant,,ENST00000380565,;GCOM1,intron_variant,,ENST00000380561,;GCOM1,missense_variant,p.Gly400Glu,ENST00000488175,;GCOM1,missense_variant,p.Gly369Glu,ENST00000468886,;GCOM1,missense_variant,p.Gly331Glu,ENST00000471563,;GCOM1,missense_variant,p.Gly400Glu,ENST00000463717,;GCOM1,missense_variant,p.Gly400Glu,ENST00000482814,;GCOM1,3_prime_UTR_variant,,ENST00000496627,;GCOM1,intron_variant,,ENST00000460962,;GCOM1,intron_variant,,ENST00000496101,;GCOM1,intron_variant,,ENST00000477282,;							MODERATE	1199/1653	G400E				Transcript		probably_damaging(0.993)	.	ENSP00000369943		CCDS32247.1			1	
ZFPM1	0	LGGM	GRCh37	16	88601321	88601321	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	4	.	.	ENST00000319555.3:c.2955C>T	p.Ser985=	p.S985=	ENST00000319555	NM_153813.2	985	agC/agT	0	1	1	UPI000049DE26	0		ENST00000319555		ENSG00000179588	19762		22			HGNC	p.S985S	rs775667562	ZFPM1		SNV							ENST00000319555	protein_coding			Pfam_domain:PF13912,hmmpanther:PTHR12958,hmmpanther:PTHR12958:SF4,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		T		3277/5380	1.56E-05						YES	ZFPM1,synonymous_variant,p.=,ENST00000319555,NM_153813.2;RP11-21B21.4,upstream_gene_variant,,ENST00000563243,;							LOW	2955/3021		FOG1_HUMAN			Transcript			.	ENSP00000326630	8.25E-06	CCDS32502.1			1	
SYNDIG1L	0	LGGM	GRCh37	14	74876364	74876364	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	4	.	.	ENST00000331628.3:c.84C>T	p.Thr28=	p.T28=	ENST00000331628	NM_001105579.1	28	acC/acT	0	1	1	UPI0000D6242F	0		ENST00000331628		ENSG00000183379	32388		18			HGNC	p.T28T	rs766953009	SYNDIG1L		SNV				0.000106			ENST00000331628	protein_coding			hmmpanther:PTHR14768,hmmpanther:PTHR14768:SF4		T		A		332/2607				G3V402_HUMAN			YES	SYNDIG1L,synonymous_variant,p.=,ENST00000331628,NM_001105579.1;SYNDIG1L,synonymous_variant,p.=,ENST00000554823,;SYNDIG1L,synonymous_variant,p.=,ENST00000554953,;							LOW	84/717		SYN1L_HUMAN			Transcript			.	ENSP00000331474	8.56E-06	CCDS41970.1			1	
TRAPPC11	0	LGGM	GRCh37	4	184628009	184628009	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	4	.	.	ENST00000334690.6:c.3105C>T	p.His1035=	p.H1035=	ENST00000334690	NM_021942.5	1035	caC/caT	0	1	1	UPI000020B774	0		ENST00000334690		ENSG00000168538	25751		30			HGNC	p.H1035H	rs776229259	TRAPPC11		SNV			1				ENST00000357207	protein_coding			Pfam_domain:PF07919,hmmpanther:PTHR14374		H		T		3307/4552	1.50E-05						YES	TRAPPC11,synonymous_variant,p.=,ENST00000334690,NM_021942.5;TRAPPC11,synonymous_variant,p.=,ENST00000357207,NM_199053.2;TRAPPC11,synonymous_variant,p.=,ENST00000512476,;RNU6-1053P,downstream_gene_variant,,ENST00000515930,;TRAPPC11,3_prime_UTR_variant,,ENST00000505676,;TRAPPC11,non_coding_transcript_exon_variant,,ENST00000511955,;TRAPPC11,non_coding_transcript_exon_variant,,ENST00000506426,;							LOW	3105/3402		TPC11_HUMAN			Transcript			.	ENSP00000335371	8.24E-06	CCDS34112.1			1	
HACE1	0	LGGM	GRCh37	6	105219911	105219911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	4	.	.	ENST00000262903.4:c.1903C>T	p.Pro635Ser	p.P635S	ENST00000262903	NM_020771.3	635	Cct/Tct	0	1	1	UPI00001602DC	0	getma.org/pdb.php?prot=HACE1_HUMAN&from=602&to=909&var=P635S	ENST00000262903		ENSG00000085382	21033		39	1.82		HGNC	p.P635S		HACE1		SNV			1				ENST00000262903	protein_coding	getma.org/?cm=var&var=hg19,6,105219911,G,A&fts=all		PROSITE_profiles:PS50237,hmmpanther:PTHR11254:SF278,hmmpanther:PTHR11254,Pfam_domain:PF00632,SMART_domains:SM00119,Superfamily_domains:SSF56204		P/S		A	low	2180/4576		getma.org/?cm=msa&ty=f&p=HACE1_HUMAN&rb=602&re=909&var=P635S	tolerated(0.06)	E5RFX0_HUMAN,E3W983_HUMAN			YES	HACE1,missense_variant,p.Pro635Ser,ENST00000262903,NM_020771.3;HACE1,missense_variant,p.Pro118Ser,ENST00000518503,;HACE1,missense_variant,p.Pro70Ser,ENST00000518402,;HACE1,intron_variant,,ENST00000369125,;HACE1,non_coding_transcript_exon_variant,,ENST00000517995,;HACE1,3_prime_UTR_variant,,ENST00000416605,;HACE1,3_prime_UTR_variant,,ENST00000517424,;HACE1,non_coding_transcript_exon_variant,,ENST00000369127,;							MODERATE	1903/2730	P635S	HACE1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000262903		CCDS5050.1			1	
ME1	0	LGGM	GRCh37	6	83933558	83933558	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	4	.	.	ENST00000369705.3:c.1370T>C	p.Val457Ala	p.V457A	ENST00000369705	NM_002395.4	457	gTg/gCg	0	1	1	UPI000000127E	0	getma.org/pdb.php?prot=MAOX_HUMAN&from=270&to=522&var=V457A	ENST00000369705		ENSG00000065833	6983		37	1.295		HGNC	p.V291A		ME1		SNV							ENST00000541327	protein_coding	getma.org/?cm=var&var=hg19,6,83933558,A,G&fts=all		hmmpanther:PTHR23406,hmmpanther:PTHR23406:SF17,Pfam_domain:PF03949,Gene3D:3.40.50.720,PIRSF_domain:PIRSF000106,SMART_domains:SM00919,Superfamily_domains:SSF51735		V/A		G	low	1487/3371		getma.org/?cm=msa&ty=f&p=MAOX_HUMAN&rb=270&re=522&var=V457A	deleterious(0.02)	F5H4W0_HUMAN,B4DZ70_HUMAN			YES	ME1,missense_variant,p.Val457Ala,ENST00000369705,NM_002395.4;ME1,missense_variant,p.Val382Ala,ENST00000543031,;ME1,missense_variant,p.Val291Ala,ENST00000541327,;							MODERATE	1370/1719	V457A	MAOX_HUMAN			Transcript		probably_damaging(0.932)	.	ENSP00000358719		CCDS34492.1			1	
SPEG	0	LGGM	GRCh37	2	220333598	220333598	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	4	.	.	ENST00000312358.7:c.3319A>T	p.Ser1107Cys	p.S1107C	ENST00000312358	NM_005876.4	1107	Agt/Tgt	0	1	1	UPI000066D99E	0	getma.org/pdb.php?prot=SPEG_HUMAN&from=1064&to=1153&var=S1107C	ENST00000312358		ENSG00000072195	16901		13	2.87		HGNC	p.S1107C		SPEG		SNV			1				ENST00000312358	protein_coding	getma.org/?cm=var&var=hg19,2,220333598,A,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF156,Pfam_domain:PF07679,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408,Superfamily_domains:SSF48726		S/C		T	medium	3451/10782		getma.org/?cm=msa&ty=f&p=SPEG_HUMAN&rb=1064&re=1153&var=S1107C		B9A038_HUMAN			YES	SPEG,missense_variant,p.Ser1107Cys,ENST00000312358,NM_005876.4;SPEG,downstream_gene_variant,,ENST00000396698,;SPEG,downstream_gene_variant,,ENST00000396695,;SPEG,downstream_gene_variant,,ENST00000396688,NM_001173476.1;SPEG,downstream_gene_variant,,ENST00000396689,;SPEG,downstream_gene_variant,,ENST00000396686,;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,;SPEG,downstream_gene_variant,,ENST00000498378,;SPEG,downstream_gene_variant,,ENST00000462545,;SPEG,downstream_gene_variant,,ENST00000463218,;SPEG,downstream_gene_variant,,ENST00000496786,;SPEG,downstream_gene_variant,,ENST00000464989,;SPEG,upstream_gene_variant,,ENST00000485069,;SPEG,downstream_gene_variant,,ENST00000475921,;							MODERATE	3319/9804	S1107C	SPEG_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000311684		CCDS42824.1			1	
MS4A4E	0	LGGM	GRCh37	11	59982079	59982079	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	4	.	.	ENST00000425663.1:c.153T>A	p.Tyr51Ter	p.Y51*	ENST00000425663		51	taT/taA	0	1		UPI000173AA12	0		ENST00000398984		ENSG00000214787	14284		35			HGNC	p.Y94X		MS4A4E		SNV							ENST00000528394	protein_coding			Transmembrane_helices:TMhelix		Y/*		T		282/479								MS4A4E,stop_gained,p.Tyr81Ter,ENST00000427611,;MS4A4E,stop_gained,p.Tyr94Ter,ENST00000528394,;MS4A4E,stop_gained,p.Tyr94Ter,ENST00000398984,;MS4A4E,stop_gained,p.Tyr51Ter,ENST00000425663,;MS4A4E,missense_variant,p.Ser63Thr,ENST00000526086,;MS4A4E,missense_variant,p.Ser63Thr,ENST00000398986,;MS4A4E,3_prime_UTR_variant,,ENST00000532442,;MS4A4E,3_prime_UTR_variant,,ENST00000526153,;							HIGH	282/399		M4A4E_HUMAN			Transcript			.	ENSP00000381954					1	
CXorf67	0	LGGM	GRCh37	X	51151038	51151038	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	4	.	.	ENST00000342995.2:c.1170T>G	p.Pro390=	p.P390=	ENST00000342995		390	ccT/ccG	0	1	1	UPI000000DB6D	0		ENST00000342995		ENSG00000187690	33738		9			HGNC	p.P390P	rs782676115	CXorf67		SNV							ENST00000342995	protein_coding			hmmpanther:PTHR22467,hmmpanther:PTHR22467:SF0		P		G		1272/1921							YES	CXorf67,synonymous_variant,p.=,ENST00000342995,;RP11-348F1.2,intron_variant,,ENST00000455931,;	0.000151						LOW	1170/1512		CX067_HUMAN			Transcript			.	ENSP00000342680	8.24E-06				1	
HGSNAT	0	LGGM	GRCh37	8	43016617	43016617	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	4	.	.	ENST00000379644.4:c.530T>C	p.Ile177Thr	p.I177T	ENST00000379644	NM_152419.2	177	aTc/aCc	0	1	1	UPI000057A06E	0	NA	ENST00000379644		ENSG00000165102	26527		47	0.695		HGNC	p.I177T		HGSNAT		SNV			1				ENST00000379644	protein_coding	getma.org/?cm=var&var=hg19,8,43016617,T,C&fts=all		hmmpanther:PTHR31061,hmmpanther:PTHR31061:SF2,Transmembrane_helices:TMhelix		I/T		C	neutral	572/5236		getma.org/?cm=msa&ty=f&p=HGNAT_HUMAN&rb=201&re=266&var=I205T	tolerated(0.08)				YES	HGSNAT,missense_variant,p.Ile205Thr,ENST00000458501,;HGSNAT,missense_variant,p.Ile177Thr,ENST00000379644,NM_152419.2;HGSNAT,missense_variant,p.Ile127Thr,ENST00000520704,;HGSNAT,3_prime_UTR_variant,,ENST00000517319,;							MODERATE	530/1908	I205T	HGNAT_HUMAN			Transcript		benign(0.028)	.	ENSP00000368965		CCDS47852.1			1	
ZNF687	0	LGGM	GRCh37	1	151261729	151261729	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	4	.	.	ENST00000324048.5:c.2453T>C	p.Phe818Ser	p.F818S	ENST00000324048		818	tTc/tCc	0	1	1	UPI00000721F7	0	getma.org/pdb.php?prot=ZN687_HUMAN&from=728&to=857&var=F818S	ENST00000324048		ENSG00000143373	29277		49	0.345		HGNC	p.F818S		ZNF687		SNV							ENST00000336715	protein_coding	getma.org/?cm=var&var=hg19,1,151261729,T,C&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF108		F/S		C	neutral	3423/5378		getma.org/?cm=msa&ty=f&p=ZN687_HUMAN&rb=728&re=857&var=F818S	deleterious(0)				YES	ZNF687,missense_variant,p.Phe818Ser,ENST00000324048,;ZNF687,missense_variant,p.Phe818Ser,ENST00000336715,;ZNF687,missense_variant,p.Phe818Ser,ENST00000368879,NM_020832.1;ZNF687,missense_variant,p.Phe421Ser,ENST00000426871,;PI4KB,downstream_gene_variant,,ENST00000368875,NM_002651.2;PI4KB,downstream_gene_variant,,ENST00000368874,NM_001198774.1;PI4KB,downstream_gene_variant,,ENST00000271657,;PI4KB,downstream_gene_variant,,ENST00000368873,;PI4KB,downstream_gene_variant,,ENST00000368872,NM_001198773.1;PI4KB,downstream_gene_variant,,ENST00000529142,NM_001198775.1;PI4KB,downstream_gene_variant,,ENST00000455060,;ZNF687,downstream_gene_variant,,ENST00000443959,;PI4KB,downstream_gene_variant,,ENST00000489889,;ZNF687,upstream_gene_variant,,ENST00000436614,;PI4KB,downstream_gene_variant,,ENST00000446339,;ZNF687,non_coding_transcript_exon_variant,,ENST00000459919,;ZNF687,intron_variant,,ENST00000449313,;							MODERATE	2453/3714	F818S	ZN687_HUMAN			Transcript		possibly_damaging(0.878)	.	ENSP00000319829		CCDS992.1			1	
WFIKKN2	0	LGGM	GRCh37	17	48918212	48918212	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	4	.	.	ENST00000311378.4:c.1563C>T	p.Thr521=	p.T521=	ENST00000311378	NM_175575.5	521	acC/acT	0	1	1	UPI000004139B	0		ENST00000311378		ENSG00000173714	30916		19			HGNC	p.T521T	rs752151966	WFIKKN2		SNV							ENST00000311378	protein_coding			Gene3D:2.40.50.120,Pfam_domain:PF01759,PROSITE_profiles:PS50189,hmmpanther:PTHR10083,hmmpanther:PTHR10083:SF183,Superfamily_domains:SSF50242		T		T		2091/3588	7.56E-05			C9J6G4_HUMAN			YES	WFIKKN2,synonymous_variant,p.=,ENST00000311378,NM_175575.5;WFIKKN2,synonymous_variant,p.=,ENST00000426127,;RP11-506D12.5,intron_variant,,ENST00000572491,;							LOW	1563/1731		WFKN2_HUMAN			Transcript			.	ENSP00000311184	4.12E-05	CCDS11575.1			1	
CES5A	0	LGGM	GRCh37	16	55907779	55907779	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	4	.	.	ENST00000521992.1:c.331G>A	p.Asp111Asn	p.D111N	ENST00000521992	NM_001190158.1	111	Gat/Aat	0	1		UPI000035CC44	0	getma.org/pdb.php?prot=EST5A_HUMAN&from=9&to=539&var=D82N	ENST00000290567		ENSG00000159398	26459		18	0.46		HGNC	p.D82N	rs754380588	CES5A	6.68E-05	SNV							ENST00000290567	protein_coding	getma.org/?cm=var&var=hg19,16,55907779,C,T&fts=all		hmmpanther:PTHR11559:SF43,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474		D/N		T	neutral	366/2084	6.17E-05	getma.org/?cm=msa&ty=f&p=EST5A_HUMAN&rb=9&re=539&var=D82N	tolerated(0.53)	I3NI11_HUMAN,F5H0J7_HUMAN				CES5A,missense_variant,p.Asp111Asn,ENST00000521992,NM_001190158.1;CES5A,missense_variant,p.Asp82Asn,ENST00000290567,NM_001143685.1;CES5A,missense_variant,p.Asp82Asn,ENST00000319165,NM_145024.2;CES5A,missense_variant,p.Asp82Asn,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,;							MODERATE	244/1728	D82N	EST5A_HUMAN	0.000157		Transcript		benign(0.003)	.	ENSP00000290567	4.94E-05	CCDS45490.1			1	
TRPM3	0	LGGM	GRCh37	9	73399168	73399168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	4	.	.	ENST00000377110.3:c.1001C>T	p.Ala334Val	p.A334V	ENST00000377110		334	gCa/gTa	0	1	1	UPI0001596895	0	NA	ENST00000377110		ENSG00000083067	17992		15	1.59		HGNC	p.A334V	rs749516833	TRPM3	0.000123	SNV							ENST00000377111	protein_coding	getma.org/?cm=var&var=hg19,9,73399168,G,A&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7		A/V		A	low	1245/12258		getma.org/?cm=msa&ty=f&p=TRPM3_HUMAN&rb=240&re=439&var=A359V	deleterious(0.01)				YES	TRPM3,missense_variant,p.Ala334Val,ENST00000377110,;TRPM3,missense_variant,p.Ala206Val,ENST00000377106,NM_020952.4,NM_206946.3;TRPM3,missense_variant,p.Ala206Val,ENST00000360823,NM_206944.3,NM_206947.3;TRPM3,missense_variant,p.Ala181Val,ENST00000377105,NM_206945.3,NM_024971.5;TRPM3,missense_variant,p.Ala361Val,ENST00000423814,;TRPM3,missense_variant,p.Ala336Val,ENST00000357533,;TRPM3,missense_variant,p.Ala206Val,ENST00000396292,;TRPM3,missense_variant,p.Ala206Val,ENST00000358082,;TRPM3,missense_variant,p.Ala181Val,ENST00000408909,;TRPM3,missense_variant,p.Ala181Val,ENST00000396285,;TRPM3,missense_variant,p.Ala181Val,ENST00000396280,;TRPM3,missense_variant,p.Ala334Val,ENST00000377111,NM_001007471.2;TRPM3,missense_variant,p.Ala206Val,ENST00000396283,;TRPM3,missense_variant,p.Ala181Val,ENST00000377101,;TRPM3,missense_variant,p.Ala181Val,ENST00000361823,NM_206948.2,NM_001007470.1;							MODERATE	1001/5124	A359V	TRPM3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000366314	1.65E-05	CCDS43835.1			1	
MYO1F	0	LGGM	GRCh37	19	8592339	8592339	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	4	.	.	ENST00000338257.8:c.2357C>T	p.Pro786Leu	p.P786L	ENST00000338257	NM_012335.3	786	cCc/cTc	0	1	1	UPI00001678F0	0	NA	ENST00000338257		ENSG00000142347	7600		19	2.735		HGNC	p.P786L		MYO1F		SNV							ENST00000338257	protein_coding	getma.org/?cm=var&var=hg19,19,8592339,G,A&fts=all		Pfam_domain:PF06017,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF288		P/L		A	medium	2625/4303		getma.org/?cm=msa&ty=f&p=MYO1F_HUMAN&rb=716&re=918&var=P786L	deleterious(0.04)	Q14779_HUMAN,M0QXU2_HUMAN			YES	MYO1F,missense_variant,p.Pro786Leu,ENST00000338257,NM_012335.3;MYO1F,synonymous_variant,p.=,ENST00000598005,;MYO1F,downstream_gene_variant,,ENST00000597222,;MYO1F,upstream_gene_variant,,ENST00000600885,;MYO1F,upstream_gene_variant,,ENST00000596245,;MYO1F,downstream_gene_variant,,ENST00000597459,;MYO1F,downstream_gene_variant,,ENST00000598797,;							MODERATE	2357/3297	P786L	MYO1F_HUMAN			Transcript		benign(0.281)	.	ENSP00000344871		CCDS42494.1			1	
WDFY3	0	LGGM	GRCh37	4	85758213	85758213	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	4	.	.	ENST00000295888.4:c.445G>A	p.Val149Met	p.V149M	ENST00000295888	NM_014991.4	149	Gtg/Atg	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		34	2.045		HGNC	p.V149M		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85758213,C,T&fts=all		hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		V/M		T	medium	853/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=1&re=200&var=V149M	deleterious(0.01)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Val149Met,ENST00000322366,;WDFY3,missense_variant,p.Val149Met,ENST00000295888,NM_014991.4;WDFY3,downstream_gene_variant,,ENST00000514071,;WDFY3,non_coding_transcript_exon_variant,,ENST00000426414,;							MODERATE	445/10581	V149M	WDFY3_HUMAN			Transcript		possibly_damaging(0.541)	.	ENSP00000295888		CCDS3609.1			1	
ZSCAN20	0	LGGM	GRCh37	1	33958890	33958890	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	4	.	.	ENST00000361328.3:c.1548G>T	p.Val516=	p.V516=	ENST00000361328	NM_145238.3	516	gtG/gtT	0	1	1	UPI0000D61EC5	0		ENST00000361328		ENSG00000121903	13093		42			HGNC	p.V516V		ZSCAN20		SNV							ENST00000326544	protein_coding			Pfam_domain:PF13837,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF198,SMART_domains:SM00717		V		T		1701/4316							YES	ZSCAN20,synonymous_variant,p.=,ENST00000361328,NM_145238.3;ZSCAN20,downstream_gene_variant,,ENST00000373413,;ZSCAN20,downstream_gene_variant,,ENST00000480917,;							LOW	1548/3132		ZSC20_HUMAN			Transcript			.	ENSP00000355053		CCDS41300.1			1	
MAN2A1	0	LGGM	GRCh37	5	109124647	109124647	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	4	.	.	ENST00000261483.4:c.1773G>A	p.Ser591=	p.S591=	ENST00000261483	NM_002372.2	591	tcG/tcA	0	1	1	UPI000013D193	0		ENST00000261483		ENSG00000112893	6824	8.87E-05	51			HGNC	p.S591S	rs751012585	MAN2A1	0.000244	SNV							ENST00000261483	protein_coding			hmmpanther:PTHR11607,hmmpanther:PTHR11607:SF20,Gene3D:3bvxA02,Superfamily_domains:SSF88688		S		A		2825/4667	3.03E-05			Q49A69_HUMAN			YES	MAN2A1,synonymous_variant,p.=,ENST00000261483,NM_002372.2;							LOW	1773/3435		MA2A1_HUMAN			Transcript			.	ENSP00000261483	5.77E-05	CCDS34209.1			1	
FGD5	0	LGGM	GRCh37	3	14861305	14861305	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000285046.5:c.727G>A	p.Gly243Arg	p.G243R	ENST00000285046	NM_152536.3	243	Gga/Aga	0	1	1	UPI00002372AE	0	NA	ENST00000285046		ENSG00000154783	19117		17	0.55		HGNC	p.G243R		FGD5		SNV							ENST00000285046	protein_coding	getma.org/?cm=var&var=hg19,3,14861305,G,A&fts=all				G/R		A	neutral	837/5720		getma.org/?cm=msa&ty=f&p=FGD5_HUMAN&rb=75&re=303&var=G243R	tolerated_low_confidence(0.21)	A3KMQ0_HUMAN			YES	FGD5,missense_variant,p.Gly243Arg,ENST00000285046,NM_152536.3;FGD5,missense_variant,p.Gly2Arg,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;							MODERATE	727/4389	G243R	FGD5_HUMAN			Transcript		benign(0.276)	.	ENSP00000285046		CCDS46767.1			1	
PEX5	0	LGGM	GRCh37	12	7361078	7361078	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000434354.2:c.1252C>T	p.Gln418Ter	p.Q418*	ENST00000434354	NM_001131023.1	418	Cag/Tag	0	1		UPI000016AE82	0	NA	ENST00000420616		ENSG00000139197	9719		17	0		HGNC	p.Q424X	COSM3465147,COSM3465146	PEX5		SNV			1			1,1	ENST00000412720	protein_coding	getma.org/?cm=var&var=hg19,12,7361078,C,T&fts=all		PROSITE_profiles:PS50293,hmmpanther:PTHR10130,hmmpanther:PTHR10130:SF2,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		Q/*		T	NA	1725/2477		NA		F5H432_HUMAN,F5H3X7_HUMAN,F5H205_HUMAN,F5H0L9_HUMAN,F5GZ41_HUMAN,F5GYB4_HUMAN,F5GXX3_HUMAN				PEX5,stop_gained,p.Gln366Ter,ENST00000266563,NM_001131024.1;PEX5,stop_gained,p.Gln395Ter,ENST00000266564,NM_000319.4;PEX5,stop_gained,p.Gln403Ter,ENST00000455147,NM_001131026.1;PEX5,stop_gained,p.Gln403Ter,ENST00000420616,NM_001131025.1;PEX5,stop_gained,p.Gln418Ter,ENST00000434354,NM_001131023.1;PEX5,stop_gained,p.Gln424Ter,ENST00000412720,;PEX5,stop_gained,p.Gln373Ter,ENST00000396637,;PEX5,downstream_gene_variant,,ENST00000545574,;PEX5,upstream_gene_variant,,ENST00000541850,;					1,1		HIGH	1207/1920	Q403*	PEX5_HUMAN			Transcript			.	ENSP00000410159		CCDS44823.1			1	
SAMD9L	0	LGGM	GRCh37	7	92762413	92762413	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	4	.	.	ENST00000318238.4:c.2872G>A	p.Glu958Lys	p.E958K	ENST00000318238	NM_152703.2	958	Gaa/Aaa	0	1	1	UPI000020F567	0	NA	ENST00000318238		ENSG00000177409	1349		55	2.005		HGNC	p.E958K	COSM1264849	SAMD9L		SNV						1	ENST00000411955	protein_coding	getma.org/?cm=var&var=hg19,7,92762413,C,T&fts=all		hmmpanther:PTHR16155,hmmpanther:PTHR16155:SF18		E/K		T	medium	4089/7134		getma.org/?cm=msa&ty=f&p=SAM9L_HUMAN&rb=5&re=1582&var=E958K	tolerated(0.06)	B4E3M1_HUMAN			YES	SAMD9L,missense_variant,p.Glu958Lys,ENST00000318238,NM_152703.2;SAMD9L,missense_variant,p.Glu958Lys,ENST00000411955,;SAMD9L,missense_variant,p.Glu958Lys,ENST00000437805,;SAMD9L,downstream_gene_variant,,ENST00000446033,;SAMD9L,downstream_gene_variant,,ENST00000446959,;SAMD9L,downstream_gene_variant,,ENST00000439952,;SAMD9L,downstream_gene_variant,,ENST00000414791,;					1		MODERATE	2872/4755	E958K	SAM9L_HUMAN			Transcript		benign(0.049)	.	ENSP00000326247		CCDS34681.1			1	
ACTR3B	0	LGGM	GRCh37	7	152549316	152549316	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	4	.	.	ENST00000256001.8:c.1057C>T	p.Leu353Phe	p.L353F	ENST00000256001	NM_020445.5	353	Ctc/Ttc	0	1	1	UPI0000073AC7	0	getma.org/pdb.php?prot=ARP3B_HUMAN&from=3&to=412&var=L353F	ENST00000256001		ENSG00000133627	17256		34	3.37		HGNC	p.L265F		ACTR3B		SNV							ENST00000537264	protein_coding	getma.org/?cm=var&var=hg19,7,152549316,C,T&fts=all		Superfamily_domains:SSF53067,SMART_domains:SM00268,Gene3D:3.30.420.40,Pfam_domain:PF00022,hmmpanther:PTHR11937:SF170,hmmpanther:PTHR11937		L/F		T	medium	1191/2216		getma.org/?cm=msa&ty=f&p=ARP3B_HUMAN&rb=3&re=412&var=L353F	tolerated(0.17)	C9J580_HUMAN,B3KM55_HUMAN			YES	ACTR3B,missense_variant,p.Leu353Phe,ENST00000256001,NM_020445.5;ACTR3B,missense_variant,p.Leu265Phe,ENST00000397282,;ACTR3B,missense_variant,p.Leu265Phe,ENST00000537264,;ACTR3B,intron_variant,,ENST00000377776,NM_001040135.2;ACTR3B,non_coding_transcript_exon_variant,,ENST00000479402,;							MODERATE	1057/1257	L353F	ARP3B_HUMAN			Transcript		benign(0.443)	.	ENSP00000256001		CCDS5934.1			1	
FAM120A	0	LGGM	GRCh37	9	96278418	96278418	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	4	.	.	ENST00000277165.6:c.1285C>T	p.Pro429Ser	p.P429S	ENST00000277165	NM_014612.3	429	Ccg/Tcg	0	1	1	UPI0000211A83	0	NA	ENST00000277165		ENSG00000048828	13247		29	1.735		HGNC	p.P429S		FAM120A		SNV							ENST00000277165	protein_coding	getma.org/?cm=var&var=hg19,9,96278418,C,T&fts=all		hmmpanther:PTHR15976,hmmpanther:PTHR15976:SF14		P/S		T	low	1479/5118		getma.org/?cm=msa&ty=f&p=F120A_HUMAN&rb=401&re=600&var=P429S	tolerated(0.24)				YES	FAM120A,missense_variant,p.Pro429Ser,ENST00000277165,NM_014612.3,NM_001286722.1;FAM120A,missense_variant,p.Pro429Ser,ENST00000333936,;FAM120A,missense_variant,p.Pro429Ser,ENST00000340893,;FAM120A,missense_variant,p.Pro429Ser,ENST00000375389,NM_001286724.1;FAM120A,missense_variant,p.Pro273Ser,ENST00000446420,;							MODERATE	1285/3357	P429S	F120A_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000277165		CCDS6706.1			1	
PASK	0	LGGM	GRCh37	2	242066104	242066104	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	4	.	.	ENST00000358649.4:c.2226C>T	p.Asn742=	p.N742=	ENST00000358649		742	aaC/aaT	0	1		UPI000013C995	0		ENST00000234040		ENSG00000115687	17270		26			HGNC	p.N742N		PASK		SNV							ENST00000405260	protein_coding			hmmpanther:PTHR22971,hmmpanther:PTHR22971:SF2		N		A		2359/4572				Q14148_HUMAN,C9J4R3_HUMAN,C9J1Z3_HUMAN,B7Z7V7_HUMAN				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,;							LOW	2226/3972		PASK_HUMAN			Transcript			.	ENSP00000234040		CCDS2545.1			1	
ABL1	0	LGGM	GRCh37	9	133730446	133730446	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	4	.	.	ENST00000318560.5:c.512T>C	p.Val171Ala	p.V171A	ENST00000318560	NM_005157.4	171	gTg/gCg	0	1		UPI000013D6D4	0	getma.org/pdb.php?prot=ABL1_HUMAN&from=127&to=202&var=V171A	ENST00000318560		ENSG00000097007	76		43	2.145		HGNC	p.V171A		ABL1		SNV			1				ENST00000318560	protein_coding	getma.org/?cm=var&var=hg19,9,133730446,T,C&fts=all		Gene3D:3.30.505.10,Pfam_domain:PF00017,Prints_domain:PR00401,PROSITE_profiles:PS50001,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87,SMART_domains:SM00252,Superfamily_domains:SSF55550		V/A		C	medium	893/5766		getma.org/?cm=msa&ty=f&p=ABL1_HUMAN&rb=127&re=202&var=V171A	deleterious(0.01)					ABL1,missense_variant,p.Val171Ala,ENST00000318560,NM_005157.4;ABL1,missense_variant,p.Val190Ala,ENST00000372348,NM_007313.2;ABL1,downstream_gene_variant,,ENST00000393293,;							MODERATE	512/3393	V171A	ABL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000323315		CCDS35166.1			1	
FKTN	0	LGGM	GRCh37	9	108380329	108380329	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	4	.	.	ENST00000223528.2:c.1000G>T	p.Ala334Ser	p.A334S	ENST00000223528	NM_006731.2	334	Gca/Tca	0	1	1	UPI000012A5A6	0	NA	ENST00000223528		ENSG00000106692	3622		31	1.85		HGNC	p.A334S		FKTN		SNV			1				ENST00000357998	protein_coding	getma.org/?cm=var&var=hg19,9,108380329,G,T&fts=all		hmmpanther:PTHR15407		A/S		T	low	1124/7364		getma.org/?cm=msa&ty=f&p=FKTN_HUMAN&rb=288&re=346&var=A334S	tolerated(0.05)	I7HFV8_HUMAN			YES	FKTN,missense_variant,p.Ala334Ser,ENST00000223528,NM_006731.2;FKTN,missense_variant,p.Ala334Ser,ENST00000602661,NM_001079802.1;FKTN,missense_variant,p.Ala334Ser,ENST00000448551,NM_001198963.1;FKTN,missense_variant,p.Ala334Ser,ENST00000357998,;FKTN,missense_variant,p.Ala31Ser,ENST00000457847,;FKTN,intron_variant,,ENST00000540160,;FKTN,3_prime_UTR_variant,,ENST00000602526,;							MODERATE	1000/1386	A334S	FKTN_HUMAN			Transcript		possibly_damaging(0.511)	.	ENSP00000223528		CCDS6766.1			1	
MDN1	0	LGGM	GRCh37	6	90491272	90491272	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	89	4	.	.	ENST00000369393.3:c.1489G>T	p.Asp497Tyr	p.D497Y	ENST00000369393		497	Gat/Tat	0	1	1	UPI000013C4B8	0	NA	ENST00000369393		ENSG00000112159	18302		93	2.535		HGNC	p.D424Y		MDN1		SNV							ENST00000439638	protein_coding	getma.org/?cm=var&var=hg19,6,90491272,C,A&fts=all		PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		D/Y		A	medium	1605/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=459&re=658&var=D497Y		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Asp497Tyr,ENST00000369393,;MDN1,missense_variant,p.Asp497Tyr,ENST00000428876,NM_014611.1;MDN1,missense_variant,p.Asp424Tyr,ENST00000439638,;							MODERATE	1489/16791	D497Y	MDN1_HUMAN			Transcript		possibly_damaging(0.781)	.	ENSP00000358400		CCDS5024.1			1	
RBM34	0	LGGM	GRCh37	1	235324365	235324365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	4	.	.	ENST00000408888.3:c.71G>T	p.Gly24Val	p.G24V	ENST00000408888		24	gGc/gTc	0	1	1	UPI00001D7E4C	0	NA	ENST00000408888		ENSG00000188739	28965		28	1.5		HGNC	p.G22V		RBM34		SNV							ENST00000447801	protein_coding	getma.org/?cm=var&var=hg19,1,235324365,C,A&fts=all				G/V		A	low	302/2054		getma.org/?cm=msa&ty=f&p=RBM34_HUMAN&rb=1&re=186&var=G24V	tolerated(0.11)				YES	RBM34,missense_variant,p.Gly24Val,ENST00000408888,;RBM34,missense_variant,p.Gly19Val,ENST00000366606,NM_015014.2;RBM34,missense_variant,p.Gly22Val,ENST00000447801,;RBM34,missense_variant,p.Gly24Val,ENST00000429912,;RBM34,non_coding_transcript_exon_variant,,ENST00000485019,;RBM34,missense_variant,p.Gly27Val,ENST00000474086,;ARID4B,3_prime_UTR_variant,,ENST00000474953,;RBM34,non_coding_transcript_exon_variant,,ENST00000476261,;RBM34,non_coding_transcript_exon_variant,,ENST00000486751,;RBM34,non_coding_transcript_exon_variant,,ENST00000468751,;RBM34,upstream_gene_variant,,ENST00000475960,;							MODERATE	71/1293	G24V	RBM34_HUMAN			Transcript		benign(0.017)	.	ENSP00000386226		CCDS41477.2			1	
CSMD3	0	LGGM	GRCh37	8	113402983	113402983	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	4	.	.	ENST00000297405.5:c.5844G>A	p.Gly1948=	p.G1948=	ENST00000297405	NM_198123.1	1948	ggG/ggA	0	1	1	UPI00001E0584	0		ENST00000297405		ENSG00000164796	19291		37			HGNC	p.G1844G		CSMD3		SNV							ENST00000455883	protein_coding			Gene3D:2.60.120.290,Pfam_domain:PF00431,PROSITE_profiles:PS01180,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,SMART_domains:SM00042,Superfamily_domains:SSF49854		G		T		6089/13212							YES	CSMD3,synonymous_variant,p.=,ENST00000297405,NM_198123.1;CSMD3,synonymous_variant,p.=,ENST00000343508,NM_198124.1;CSMD3,synonymous_variant,p.=,ENST00000352409,;CSMD3,synonymous_variant,p.=,ENST00000455883,NM_052900.2;CSMD3,synonymous_variant,p.=,ENST00000339701,;							LOW	5844/11124		CSMD3_HUMAN			Transcript			.	ENSP00000297405		CCDS6315.1			1	
IPO9	0	LGGM	GRCh37	1	201843399	201843399	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	4	.	.	ENST00000361565.4:c.2732T>C	p.Ile911Thr	p.I911T	ENST00000361565	NM_018085.4	911	aTt/aCt	0	1	1	UPI000007304B	0	NA	ENST00000361565		ENSG00000198700	19425		54	1.605		HGNC	p.I911T		IPO9		SNV							ENST00000361565	protein_coding	getma.org/?cm=var&var=hg19,1,201843399,T,C&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR10997,hmmpanther:PTHR10997:SF9,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		I/T		C	low	2801/11435		getma.org/?cm=msa&ty=f&p=IPO9_HUMAN&rb=720&re=919&var=I911T	tolerated(0.09)				YES	IPO9,missense_variant,p.Ile911Thr,ENST00000361565,NM_018085.4;IPO9,upstream_gene_variant,,ENST00000456707,;							MODERATE	2732/3126	I911T	IPO9_HUMAN			Transcript		benign(0.053)	.	ENSP00000354742		CCDS1415.1			1	
CDH22	0	LGGM	GRCh37	20	44879692	44879692	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	4	.	.	ENST00000372262.3:c.242T>A	p.Leu81Gln	p.L81Q	ENST00000372262		81	cTg/cAg	0	1	1	UPI0000126DC0	0	getma.org/pdb.php?prot=CAD22_HUMAN&from=67&to=159&var=L81Q	ENST00000372262		ENSG00000149654	13251		26	-0.28		HGNC	p.L81Q		CDH22		SNV							ENST00000372262	protein_coding	getma.org/?cm=var&var=hg19,20,44879692,A,T&fts=all		hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF88,Pfam_domain:PF00028,Superfamily_domains:SSF49313		L/Q		T	neutral	643/3661		getma.org/?cm=msa&ty=f&p=CAD22_HUMAN&rb=67&re=159&var=L81Q	tolerated(0.6)	Q49AS4_HUMAN			YES	CDH22,missense_variant,p.Leu81Gln,ENST00000372262,;CDH22,missense_variant,p.Leu81Gln,ENST00000537909,NM_021248.2;							MODERATE	242/2487	L81Q	CAD22_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000361336		CCDS13395.1			1	
APOL3	0	LGGM	GRCh37	22	36537464	36537464	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	4	.	.	ENST00000349314.2:c.993G>A	p.Arg331=	p.R331=	ENST00000349314	NM_145640.2	331	cgG/cgA	0	1	1	UPI0000141763	0		ENST00000349314		ENSG00000128284	14868		31			HGNC	p.R131R		APOL3		SNV							ENST00000397287	protein_coding			hmmpanther:PTHR14096,hmmpanther:PTHR14096:SF32,Pfam_domain:PF05461		R		T		1031/2117							YES	APOL3,synonymous_variant,p.=,ENST00000424878,;APOL3,synonymous_variant,p.=,ENST00000397287,NM_145641.2;APOL3,synonymous_variant,p.=,ENST00000361710,NM_145642.2;APOL3,synonymous_variant,p.=,ENST00000397293,;APOL3,synonymous_variant,p.=,ENST00000349314,NM_145640.2;APOL3,downstream_gene_variant,,ENST00000487423,;APOL3,downstream_gene_variant,,ENST00000534251,;APOL3,downstream_gene_variant,,ENST00000485453,;APOL3,downstream_gene_variant,,ENST00000525184,;APOL3,3_prime_UTR_variant,,ENST00000432700,;APOL3,3_prime_UTR_variant,,ENST00000422426,;APOL3,3_prime_UTR_variant,,ENST00000397289,;APOL3,downstream_gene_variant,,ENST00000487355,;APOL3,downstream_gene_variant,,ENST00000426939,;APOL3,downstream_gene_variant,,ENST00000531195,;APOL3,downstream_gene_variant,,ENST00000530895,;APOL3,downstream_gene_variant,,ENST00000487783,;							LOW	993/1209		APOL3_HUMAN			Transcript			.	ENSP00000344577		CCDS13922.1			1	
SF1	0	LGGM	GRCh37	11	64535057	64535057	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	4	.	.	ENST00000377387.1:c.1703G>A	p.Gly568Asp	p.G568D	ENST00000377387	NM_001178030.1	568	gGc/gAc	0	1		UPI000006EB2E	0	NA	ENST00000377390		ENSG00000168066	12950		33	1.15		HGNC	p.G568D	COSM930193,COSM1355770	SF1		SNV						1,1	ENST00000377387	protein_coding	getma.org/?cm=var&var=hg19,11,64535057,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF45		G/D		T	low	1666/3470		getma.org/?cm=msa&ty=f&p=SF01_HUMAN&rb=294&re=493&var=G443D	deleterious_low_confidence(0.01)	Q14821_HUMAN,C9J792_HUMAN,B4DJU4_HUMAN				SF1,missense_variant,p.Gly443Asp,ENST00000377390,NM_004630.3;SF1,missense_variant,p.Gly443Asp,ENST00000334944,NM_201995.2;SF1,missense_variant,p.Gly568Asp,ENST00000377387,NM_001178030.1;SF1,missense_variant,p.Gly443Asp,ENST00000377394,NM_201997.2;SF1,missense_variant,p.Gly443Asp,ENST00000227503,NM_201998.2;SF1,missense_variant,p.Gly417Asp,ENST00000433274,NM_001178031.1;SF1,missense_variant,p.Gly328Asp,ENST00000422298,;SF1,missense_variant,p.Gly164Asp,ENST00000486867,;SF1,missense_variant,p.Gly12Asp,ENST00000413725,;SF1,missense_variant,p.Gly87Asp,ENST00000443908,;SF1,downstream_gene_variant,,ENST00000432725,;SF1,downstream_gene_variant,,ENST00000489544,;SF1,downstream_gene_variant,,ENST00000496969,;SF1,3_prime_UTR_variant,,ENST00000448404,;SF1,non_coding_transcript_exon_variant,,ENST00000477596,;SF1,downstream_gene_variant,,ENST00000486960,;SF1,downstream_gene_variant,,ENST00000413951,;					1,1		MODERATE	1328/1920	G443D	SF01_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000366607		CCDS31599.1			1	
CCDC180	0	LGGM	GRCh37	9	100133988	100133988	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	4	.	.	ENST00000375202.2:c.4732A>T	p.Arg1578Trp	p.R1578W	ENST00000375202		1578	Agg/Tgg	0	1	1	UPI00016277C6	0	NA	ENST00000375202		ENSG00000197816	29303		22	1.61		HGNC	p.R1578W		CCDC180		SNV							ENST00000529487	protein_coding	getma.org/?cm=var&var=hg19,9,100133988,A,T&fts=all		Pfam_domain:PF14644,hmmpanther:PTHR21444,hmmpanther:PTHR21444:SF14		R/W		T	low	6084/6851		getma.org/?cm=msa&ty=f&p=CI174_HUMAN&rb=1151&re=1645&var=R1523W	deleterious(0)	B7ZMG3_HUMAN			YES	CCDC180,missense_variant,p.Arg1578Trp,ENST00000375202,;CCDC180,missense_variant,p.Arg1523Trp,ENST00000357054,;CCDC180,missense_variant,p.Arg1578Trp,ENST00000529487,NM_020893.2;CCDC180,splice_region_variant,,ENST00000395220,;RP11-23J9.4,splice_region_variant,,ENST00000534123,;RP11-23J9.4,splice_region_variant,,ENST00000375206,;RP11-23J9.4,splice_region_variant,,ENST00000529787,;RP11-23J9.4,splice_region_variant,,ENST00000532526,;CCDC180,downstream_gene_variant,,ENST00000483504,;CCDC180,splice_region_variant,,ENST00000530551,;CCDC180,non_coding_transcript_exon_variant,,ENST00000526038,;CCDC180,non_coding_transcript_exon_variant,,ENST00000534189,;CCDC180,upstream_gene_variant,,ENST00000487976,;							MODERATE	4732/5106	R1523W	CC180_HUMAN			Transcript		benign(0.185)	.	ENSP00000364348		CCDS35077.2			1	
ANKAR	0	LGGM	GRCh37	2	190584394	190584394	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	4	.	.	ENST00000520309.1:c.2321G>A	p.Ser774Asn	p.S774N	ENST00000520309	NM_144708.3	774	aGt/aAt	0	1		UPI00001D7E11	0	NA	ENST00000313581		ENSG00000151687	26350		45	1.5		HGNC	p.S538N		ANKAR		SNV							ENST00000281412	protein_coding	getma.org/?cm=var&var=hg19,2,190584394,G,A&fts=all		Gene3D:1.25.10.10,PROSITE_profiles:PS50176,hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF62,SMART_domains:SM00185,Superfamily_domains:SSF48371		S/N		A	low	2385/4391		getma.org/?cm=msa&ty=f&p=ANKAR_HUMAN&rb=772&re=971&var=S774N	tolerated(0.44)	J3KQB7_HUMAN				ANKAR,missense_variant,p.Ser774Asn,ENST00000520309,NM_144708.3;ANKAR,missense_variant,p.Ser774Asn,ENST00000313581,;ANKAR,missense_variant,p.Ser703Asn,ENST00000431575,;ANKAR,missense_variant,p.Ser774Asn,ENST00000438402,;ANKAR,missense_variant,p.Ser538Asn,ENST00000281412,;ANKAR,non_coding_transcript_exon_variant,,ENST00000464687,;ANKAR,missense_variant,p.Ser703Asn,ENST00000433782,;ANKAR,missense_variant,p.Ser538Asn,ENST00000441800,;							MODERATE	2321/4305	S774N	ANKAR_HUMAN			Transcript		benign(0.003)	.	ENSP00000313513		CCDS33351.2			1	
PIK3C2B	0	LGGM	GRCh37	1	204438523	204438523	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	4	.	.	ENST00000367187.3:c.408G>A	p.Gly136=	p.G136=	ENST00000367187	NM_002646.3	136	ggG/ggA	0	1	1	UPI00002056D1	0		ENST00000367187		ENSG00000133056	8972		14			HGNC	p.G136G		PIK3C2B		SNV							ENST00000424712	protein_coding			hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF30,Low_complexity_(Seg):seg		G		T		965/7686				Q5SW98_HUMAN,Q5SW97_HUMAN,Q4LE65_HUMAN,A2RUF7_HUMAN			YES	PIK3C2B,synonymous_variant,p.=,ENST00000367187,NM_002646.3;PIK3C2B,synonymous_variant,p.=,ENST00000424712,;PIK3C2B,downstream_gene_variant,,ENST00000415899,;PIK3C2B,upstream_gene_variant,,ENST00000367184,;PIK3C2B,downstream_gene_variant,,ENST00000429009,;							LOW	408/4905		P3C2B_HUMAN			Transcript			.	ENSP00000356155		CCDS1446.1			1	
FBN2	0	LGGM	GRCh37	5	127654675	127654675	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	4	.	.	ENST00000508053.1:c.4490T>A	p.Phe1497Tyr	p.F1497Y	ENST00000508053		1497	tTc/tAc	0	1		UPI0000519468	0	getma.org/pdb.php?prot=FBN2_HUMAN&from=1491&to=1530&var=F1497Y	ENST00000262464		ENSG00000138829	3604		41	0.58		HGNC	p.F1497Y		FBN2		SNV			1				ENST00000508053	protein_coding	getma.org/?cm=var&var=hg19,5,127654675,A,T&fts=all		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		F/Y		T	neutral	4929/10724		getma.org/?cm=msa&ty=f&p=FBN2_HUMAN&rb=1491&re=1530&var=F1497Y	deleterious(0.03)					FBN2,missense_variant,p.Phe1497Tyr,ENST00000508053,;FBN2,missense_variant,p.Phe1497Tyr,ENST00000262464,NM_001999.3;							MODERATE	4490/8739	F1497Y	FBN2_HUMAN			Transcript		probably_damaging(0.938)	.	ENSP00000262464		CCDS34222.1			1	
ITGB4	0	LGGM	GRCh37	17	73746261	73746261	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	4	.	.	ENST00000200181.3:c.3386C>T	p.Ala1129Val	p.A1129V	ENST00000200181	NM_000213.3	1129	gCc/gTc	0	1	1	UPI00001AE5C0	0	getma.org/pdb.php?prot=ITB4_HUMAN&from=1128&to=1208&var=A1129V	ENST00000200181		ENSG00000132470	6158		29	2.79		HGNC	p.A1129V		ITGB4		SNV			1				ENST00000339591	protein_coding	getma.org/?cm=var&var=hg19,17,73746261,C,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR10082:SF6,hmmpanther:PTHR10082,Gene3D:2.60.40.10,Pfam_domain:PF00041,PIRSF_domain:PIRSF002513,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/V		T	medium	3573/5919		getma.org/?cm=msa&ty=f&p=ITB4_HUMAN&rb=1128&re=1208&var=A1129V	tolerated_low_confidence(0.07)				YES	ITGB4,missense_variant,p.Ala1129Val,ENST00000200181,NM_000213.3;ITGB4,missense_variant,p.Ala1129Val,ENST00000339591,;ITGB4,missense_variant,p.Ala1129Val,ENST00000449880,NM_001005619.1;ITGB4,missense_variant,p.Ala1129Val,ENST00000450894,NM_001005731.1;ITGB4,missense_variant,p.Ala1129Val,ENST00000579662,;ITGB4,intron_variant,,ENST00000582629,;GALK1,downstream_gene_variant,,ENST00000225614,;ITGB4,upstream_gene_variant,,ENST00000583327,;ITGB4,upstream_gene_variant,,ENST00000584939,;ITGB4,downstream_gene_variant,,ENST00000584025,;ITGB4,upstream_gene_variant,,ENST00000579211,;GALK1,downstream_gene_variant,,ENST00000589643,;							MODERATE	3386/5469	A1129V	ITB4_HUMAN			Transcript		benign(0.014)	.	ENSP00000200181		CCDS11727.1			1	
ASB6	0	LGGM	GRCh37	9	132400196	132400196	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	4	.	.	ENST00000277458.4:c.1139G>A	p.Arg380His	p.R380H	ENST00000277458	NM_017873.3	380	cGt/cAt	0	1	1	UPI000004A09F	0	NA	ENST00000277458		ENSG00000148331	17181		30	2.16		HGNC	p.R380H	rs371398374	ASB6		SNV	T:0						ENST00000277458	protein_coding	getma.org/?cm=var&var=hg19,9,132400196,C,T&fts=all		PROSITE_profiles:PS50225,hmmpanther:PTHR24132:SF0,hmmpanther:PTHR24132,Pfam_domain:PF07525,SMART_domains:SM00969,SMART_domains:SM00253,Superfamily_domains:SSF158235		R/H	T:0.0001	T	medium	1305/2330	1.56E-05	getma.org/?cm=msa&ty=f&p=ASB6_HUMAN&rb=372&re=412&var=R380H	deleterious_low_confidence(0)				YES	ASB6,missense_variant,p.Arg380His,ENST00000277458,NM_017873.3;ASB6,missense_variant,p.Arg301His,ENST00000450050,;ASB6,3_prime_UTR_variant,,ENST00000277459,NM_177999.2;NTMT1,downstream_gene_variant,,ENST00000372486,NM_001286796.1;NTMT1,downstream_gene_variant,,ENST00000372483,NM_014064.2,NM_001286797.1,NM_001286798.1;NTMT1,downstream_gene_variant,,ENST00000459968,;NTMT1,downstream_gene_variant,,ENST00000482347,NM_001286803.1;NTMT1,downstream_gene_variant,,ENST00000372480,;NTMT1,downstream_gene_variant,,ENST00000372481,NM_001286800.1;RP11-483H20.4,upstream_gene_variant,,ENST00000455074,;NTMT1,downstream_gene_variant,,ENST00000486391,;NTMT1,downstream_gene_variant,,ENST00000481189,;							MODERATE	1139/1266	R380H	ASB6_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000277458	8.24E-06	CCDS6924.1			1	
EFEMP2	0	LGGM	GRCh37	11	65635468	65635468	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	4	.	.	ENST00000307998.6:c.1034A>G	p.His345Arg	p.H345R	ENST00000307998	NM_016938.4	345	cAc/cGc	0	1	1	UPI000013EC97	0	NA	ENST00000307998		ENSG00000172638	3219		21	1.59		HGNC	p.H345R		EFEMP2		SNV			1				ENST00000307998	protein_coding	getma.org/?cm=var&var=hg19,11,65635468,T,C&fts=all		hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF2		H/R		C	low	1265/2034		getma.org/?cm=msa&ty=f&p=FBLN4_HUMAN&rb=330&re=443&var=H345R	deleterious(0.01)	E9PRQ8_HUMAN,E9PKA3_HUMAN,E9PI47_HUMAN			YES	EFEMP2,missense_variant,p.His345Arg,ENST00000307998,NM_016938.4;EFEMP2,missense_variant,p.His345Arg,ENST00000528176,;EFEMP2,missense_variant,p.His61Arg,ENST00000531645,;EFEMP2,missense_variant,p.His4Arg,ENST00000526911,;EFEMP2,5_prime_UTR_variant,,ENST00000530806,;MUS81,downstream_gene_variant,,ENST00000308110,NM_025128.4;MUS81,downstream_gene_variant,,ENST00000533035,;MUS81,downstream_gene_variant,,ENST00000529374,;MUS81,downstream_gene_variant,,ENST00000525768,;EFEMP2,downstream_gene_variant,,ENST00000526624,;MUS81,downstream_gene_variant,,ENST00000529742,;MUS81,downstream_gene_variant,,ENST00000530111,;EFEMP2,downstream_gene_variant,,ENST00000527378,;MUS81,downstream_gene_variant,,ENST00000525006,;EFEMP2,upstream_gene_variant,,ENST00000532648,;MUS81,downstream_gene_variant,,ENST00000525224,;EFEMP2,missense_variant,p.His345Arg,ENST00000531972,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000526628,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000531005,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000528409,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000532084,;EFEMP2,non_coding_transcript_exon_variant,,ENST00000525392,;MUS81,downstream_gene_variant,,ENST00000531905,;MUS81,downstream_gene_variant,,ENST00000524647,;MUS81,downstream_gene_variant,,ENST00000530928,;EFEMP2,downstream_gene_variant,,ENST00000527969,;EFEMP2,downstream_gene_variant,,ENST00000533347,;EFEMP2,downstream_gene_variant,,ENST00000529870,;MUS81,downstream_gene_variant,,ENST00000529786,;MUS81,downstream_gene_variant,,ENST00000530282,;MUS81,downstream_gene_variant,,ENST00000533519,;EFEMP2,downstream_gene_variant,,ENST00000530850,;MUS81,downstream_gene_variant,,ENST00000533555,;EFEMP2,upstream_gene_variant,,ENST00000527277,;EFEMP2,upstream_gene_variant,,ENST00000524408,;MUS81,downstream_gene_variant,,ENST00000525147,;							MODERATE	1034/1332	H345R	FBLN4_HUMAN			Transcript		benign(0.147)	.	ENSP00000309953		CCDS8116.1			1	
TECRL	0	LGGM	GRCh37	4	65175609	65175609	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	4	.	.	ENST00000381210.3:c.592C>A	p.Leu198Ile	p.L198I	ENST00000381210	NM_001010874.4	198	Ctt/Att	0	1	1	UPI0000141A54	0	NA	ENST00000381210		ENSG00000205678	27365		70	1.475		HGNC	p.L198I		TECRL		SNV							ENST00000507440	protein_coding	getma.org/?cm=var&var=hg19,4,65175609,G,T&fts=all		hmmpanther:PTHR10556,hmmpanther:PTHR10556:SF27		L/I		T	low	703/3573		getma.org/?cm=msa&ty=f&p=TECRL_HUMAN&rb=1&re=200&var=L198I	tolerated(0.15)	D6RBZ3_HUMAN			YES	TECRL,missense_variant,p.Leu198Ile,ENST00000381210,NM_001010874.4;TECRL,missense_variant,p.Leu198Ile,ENST00000507440,;TECRL,non_coding_transcript_exon_variant,,ENST00000513125,;TECRL,non_coding_transcript_exon_variant,,ENST00000511356,;							MODERATE	592/1092	L198I	TECRL_HUMAN			Transcript		benign(0.024)	.	ENSP00000370607		CCDS33990.1			1	
TBL3	0	LGGM	GRCh37	16	2026244	2026244	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	4	.	.	ENST00000568546.1:c.1221G>A	p.Lys407=	p.K407=	ENST00000568546	NM_006453.2	407	aaG/aaA	0	1	1	UPI000006F172	0		ENST00000568546		ENSG00000183751	11587		15			HGNC	p.K407K		TBL3		SNV							ENST00000568546	protein_coding			Superfamily_domains:0049172,Gene3D:2.130.10.10,hmmpanther:PTHR19854:SF15,hmmpanther:PTHR19854,PROSITE_profiles:PS50294,PROSITE_profiles:PS50082		K		A		1349/6803				A0JLS5_HUMAN			YES	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,;NOXO1,downstream_gene_variant,,ENST00000567471,;TBL3,non_coding_transcript_exon_variant,,ENST00000569628,;TBL3,non_coding_transcript_exon_variant,,ENST00000564171,;TBL3,non_coding_transcript_exon_variant,,ENST00000569792,;NOXO1,downstream_gene_variant,,ENST00000563181,;TBL3,upstream_gene_variant,,ENST00000567615,;NOXO1,downstream_gene_variant,,ENST00000569739,;TBL3,downstream_gene_variant,,ENST00000561907,;							LOW	1221/2427		TBL3_HUMAN			Transcript			.	ENSP00000454836		CCDS10453.1			1	
ADAMTSL4	0	LGGM	GRCh37	1	150529209	150529209	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	61	4	.	.	ENST00000271643.4:c.1689G>A	p.Glu563=	p.E563=	ENST00000271643	NM_019032.4	563	gaG/gaA	0	1	1	UPI00001E0572	0		ENST00000271643		ENSG00000143382	19706		65			HGNC	p.E586E		ADAMTSL4		SNV			1				ENST00000369039	protein_coding			hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF144,Pfam_domain:PF05986		E		A		1925/4197				Q9UFG7_HUMAN,A8KAH2_HUMAN			YES	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;AL356356.1,downstream_gene_variant,,ENST00000538795,;ADAMTSL4-AS1,downstream_gene_variant,,ENST00000369035,;MIR4257,downstream_gene_variant,,ENST00000581735,;RP11-54A4.2,intron_variant,,ENST00000442435,;ADAMTSL4,downstream_gene_variant,,ENST00000483335,;ADAMTSL4,upstream_gene_variant,,ENST00000489159,;							LOW	1689/3225		ATL4_HUMAN			Transcript			.	ENSP00000271643		CCDS955.1			1	
CDH11	0	LGGM	GRCh37	16	65006855	65006855	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	4	.	.	ENST00000268603.4:c.1342A>G	p.Arg448Gly	p.R448G	ENST00000268603	NM_001797.2	448	Aga/Gga	0	1	1	UPI000013D7C5	0	getma.org/pdb.php?prot=CAD11_HUMAN&from=388&to=479&var=R448G	ENST00000268603		ENSG00000140937	1750		46	4.195		HGNC	p.R448G		CDH11		SNV							ENST00000268603	protein_coding	getma.org/?cm=var&var=hg19,16,65006855,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		R/G		C	high	1958/6857		getma.org/?cm=msa&ty=f&p=CAD11_HUMAN&rb=388&re=479&var=R448G	deleterious(0)	H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN			YES	CDH11,missense_variant,p.Arg448Gly,ENST00000394156,;CDH11,missense_variant,p.Arg448Gly,ENST00000268603,NM_001797.2;CDH11,missense_variant,p.Arg322Gly,ENST00000566827,;CDH11,upstream_gene_variant,,ENST00000569095,;							MODERATE	1342/2391	R448G	CAD11_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000268603		CCDS10803.1			1	
FHOD3	0	LGGM	GRCh37	18	34092473	34092473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	4	.	.	ENST00000257209.4:c.478G>A	p.Ala160Thr	p.A160T	ENST00000257209	NM_025135.2	160	Gct/Act	0	1		UPI0000EE543D	0	getma.org/pdb.php?prot=FHOD3_HUMAN&from=1&to=372&var=A160T	ENST00000359247		ENSG00000134775	26178		24	1.815		HGNC	p.A160T		FHOD3		SNV							ENST00000359247	protein_coding	getma.org/?cm=var&var=hg19,18,34092473,G,A&fts=all		PROSITE_profiles:PS51232,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF213,Superfamily_domains:SSF48371		A/T		A	low	478/4518		getma.org/?cm=msa&ty=f&p=FHOD3_HUMAN&rb=1&re=372&var=A160T	deleterious(0.04)					FHOD3,missense_variant,p.Ala160Thr,ENST00000257209,NM_025135.2;FHOD3,missense_variant,p.Ala160Thr,ENST00000590592,NM_001281740.1;FHOD3,missense_variant,p.Ala160Thr,ENST00000445677,;FHOD3,missense_variant,p.Ala160Thr,ENST00000359247,NM_001281739.1;FHOD3,non_coding_transcript_exon_variant,,ENST00000589114,;							MODERATE	478/4269	A160T	FHOD3_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000352186		CCDS62419.1			1	
DHCR24	0	LGGM	GRCh37	1	55319873	55319873	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	4	.	.	ENST00000371269.3:c.1055G>A	p.Arg352His	p.R352H	ENST00000371269	NM_014762.3	352	cGc/cAc	0	1	1	UPI00000335D4	0	NA	ENST00000371269		ENSG00000116133	2859		17	2.895		HGNC	p.R311H	rs557970863	DHCR24	6.11E-05	SNV			1				ENST00000535035	protein_coding	getma.org/?cm=var&var=hg19,1,55319873,C,T&fts=all	T:0	hmmpanther:PTHR10801,hmmpanther:PTHR10801:SF0		R/H		T	medium	1154/4250		getma.org/?cm=msa&ty=f&p=DHC24_HUMAN&rb=204&re=403&var=R352H	deleterious(0)	Q3LIE7_HUMAN,B7Z546_HUMAN	T:0	T:0	YES	DHCR24,missense_variant,p.Arg352His,ENST00000371269,NM_014762.3;DHCR24,missense_variant,p.Arg311His,ENST00000535035,;DHCR24,missense_variant,p.Arg136His,ENST00000537443,;DHCR24,upstream_gene_variant,,ENST00000436604,;		T:0.0002					MODERATE	1055/1551	R352H	DHC24_HUMAN		T:0	Transcript		probably_damaging(0.987)	.	ENSP00000360316	8.24E-06	CCDS600.1		T:0.001	1	
SCMH1	0	LGGM	GRCh37	1	41494351	41494351	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	4	.	.	ENST00000402904.2:c.1762C>T	p.Arg588Trp	p.R588W	ENST00000402904	NM_001031694.2	588	Cgg/Tgg	0	1		UPI000006FD9B	0	NA	ENST00000326197	not_provided	ENSG00000010803	19003		37	0.695		HGNC	p.R576W	rs267598597	SCMH1	0.000182	SNV						1	ENST00000337495	protein_coding	getma.org/?cm=var&var=hg19,1,41494351,G,A&fts=all	A:0	hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68,Gene3D:1.10.150.50,Superfamily_domains:SSF47769		R/W		A	neutral	2062/3275	1.51E-05	getma.org/?cm=msa&ty=f&p=SCMH1_HUMAN&rb=470&re=590&var=R588W	deleterious(0)		A:0	A:0		SCMH1,missense_variant,p.Arg588Trp,ENST00000402904,NM_001031694.2;SCMH1,missense_variant,p.Arg505Trp,ENST00000372596,NM_001172218.1;SCMH1,missense_variant,p.Arg546Trp,ENST00000397174,;SCMH1,missense_variant,p.Arg588Trp,ENST00000326197,;SCMH1,missense_variant,p.Arg519Trp,ENST00000372597,NM_012236.3,NM_001172220.1;SCMH1,missense_variant,p.Arg527Trp,ENST00000372595,NM_001172221.1;SCMH1,missense_variant,p.Arg505Trp,ENST00000397171,;SCMH1,missense_variant,p.Arg519Trp,ENST00000361705,;SCMH1,missense_variant,p.Arg576Trp,ENST00000337495,NM_001172219.1;SCMH1,missense_variant,p.Arg505Trp,ENST00000361191,;SCMH1,missense_variant,p.Arg408Trp,ENST00000456518,NM_001172222.1;SCMH1,non_coding_transcript_exon_variant,,ENST00000472037,;SCMH1,non_coding_transcript_exon_variant,,ENST00000498793,;SCMH1,non_coding_transcript_exon_variant,,ENST00000460215,;		A:0.0002					MODERATE	1762/1983	R588W	SCMH1_HUMAN		A:0	Transcript		possibly_damaging(0.453)	.	ENSP00000318094	3.29E-05	CCDS30688.1		A:0.001	1	
EML6	0	LGGM	GRCh37	2	55086744	55086744	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	4	.	.	ENST00000356458.6:c.1731G>T	p.Trp577Cys	p.W577C	ENST00000356458	NM_001039753.2	577	tgG/tgT	0	1	1	UPI00006C0432	0	NA	ENST00000356458		ENSG00000214595	35412		40	1.965		HGNC	p.W577C		EML6		SNV							ENST00000356458	protein_coding	getma.org/?cm=var&var=hg19,2,55086744,G,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,SMART_domains:SM00320,Superfamily_domains:SSF51004		W/C		T	medium	2251/8320		getma.org/?cm=msa&ty=f&p=EMAL6_HUMAN&rb=553&re=592&var=W577C	tolerated(0.07)				YES	EML6,missense_variant,p.Trp577Cys,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000493997,;							MODERATE	1731/5877	W577C	EMAL6_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000348842		CCDS46286.1			1	
TMEM252	0	LGGM	GRCh37	9	71155483	71155483	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	4	.	.	ENST00000377311.3:c.248A>G	p.His83Arg	p.H83R	ENST00000377311	NM_153237.1	83	cAt/cGt	0	1	1	UPI000006D6CF	0	NA	ENST00000377311		ENSG00000181778	28537		30	1.7		HGNC	p.H83R		TMEM252		SNV							ENST00000377311	protein_coding	getma.org/?cm=var&var=hg19,9,71155483,T,C&fts=all				H/R		C	low	301/1245		getma.org/?cm=msa&ty=f&p=CI071_HUMAN&rb=1&re=169&var=H83R	tolerated(0.41)				YES	TMEM252,missense_variant,p.His83Arg,ENST00000377311,NM_153237.1;RP11-274B18.4,upstream_gene_variant,,ENST00000413269,;RP11-274B18.2,downstream_gene_variant,,ENST00000432148,;RP11-274B18.2,downstream_gene_variant,,ENST00000446290,;							MODERATE	248/513	H83R	TM252_HUMAN			Transcript		benign(0.004)	.	ENSP00000366528		CCDS35040.1			1	
MAP3K3	0	LGGM	GRCh37	17	61769120	61769120	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	4	.	.	ENST00000361357.3:c.1465T>C	p.Tyr489His	p.Y489H	ENST00000361357	NM_203351.1	489	Tac/Cac	0	1		UPI00002011CC	0	getma.org/pdb.php?prot=M3K3_HUMAN&from=362&to=622&var=Y458H	ENST00000361733		ENSG00000198909	6855		57	0.01		HGNC	p.Y458H		MAP3K3		SNV							ENST00000361733	protein_coding	getma.org/?cm=var&var=hg19,17,61769120,T,C&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24360,hmmpanther:PTHR24360:SF38,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		Y/H		C	neutral	1692/3529		getma.org/?cm=msa&ty=f&p=M3K3_HUMAN&rb=362&re=622&var=Y458H	deleterious(0.02)	Q96HN9_HUMAN,Q7Z4E6_HUMAN				MAP3K3,missense_variant,p.Tyr489His,ENST00000361357,NM_203351.1;MAP3K3,missense_variant,p.Tyr458His,ENST00000361733,NM_002401.3;MAP3K3,missense_variant,p.Tyr489His,ENST00000579585,;MAP3K3,missense_variant,p.Tyr485His,ENST00000584573,;MAP3K3,missense_variant,p.Tyr454His,ENST00000577395,;LIMD2,downstream_gene_variant,,ENST00000259006,NM_030576.3;MAP3K3,downstream_gene_variant,,ENST00000577784,;MAP3K3,3_prime_UTR_variant,,ENST00000577597,;MAP3K3,3_prime_UTR_variant,,ENST00000581732,;MAP3K3,downstream_gene_variant,,ENST00000585302,;MAP3K3,downstream_gene_variant,,ENST00000577839,;MAP3K3,downstream_gene_variant,,ENST00000578622,;							MODERATE	1372/1881	Y458H	M3K3_HUMAN			Transcript		benign(0.378)	.	ENSP00000354485		CCDS32702.1			1	
OR11L1	0	LGGM	GRCh37	1	248004266	248004266	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	4	.	.	ENST00000355784.2:c.933T>C	p.Ile311=	p.I311=	ENST00000355784	NM_001001959.1	311	atT/atC	0	1	1	UPI0000061EBC	0		ENST00000355784		ENSG00000197591	14998		40			HGNC	p.I311I		OR11L1		SNV							ENST00000355784	protein_coding			Superfamily_domains:SSF81321		I		G		989/1056							YES	OR11L1,synonymous_variant,p.=,ENST00000355784,NM_001001959.1;							LOW	933/969		O11L1_HUMAN			Transcript			.	ENSP00000348033		CCDS31098.1			1	
HSPA12A	0	LGGM	GRCh37	10	118440661	118440661	+	splice_donor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	5	.	.	ENST00000369209.3:c.1027+2T>C		p.X343_splice	ENST00000369209	NM_025015.2			0	1	1	UPI00001B3DE3	0		ENST00000369209		ENSG00000165868	19022		35			HGNC	-		HSPA12A		SNV							ENST00000369209	protein_coding							G		-/5722							YES	HSPA12A,splice_donor_variant,,ENST00000369209,NM_025015.2;HSPA12A,downstream_gene_variant,,ENST00000480802,;							HIGH	1027/2028		HS12A_HUMAN			Transcript			.	ENSP00000358211		CCDS41569.1			1	
ZNF462	0	LGGM	GRCh37	9	109690396	109690396	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	5	.	.	ENST00000277225.5:c.4203A>G	p.Ser1401=	p.S1401=	ENST00000277225		1401	tcA/tcG	0	1	1	UPI0000470106	0		ENST00000277225		ENSG00000148143	21684		61			HGNC	p.S1401S		ZNF462		SNV							ENST00000277225	protein_coding			hmmpanther:PTHR24385:SF52,hmmpanther:PTHR24385		S		G		4492/10414				U3KQ68_HUMAN,F5H0Z0_HUMAN			YES	ZNF462,synonymous_variant,p.=,ENST00000277225,;ZNF462,synonymous_variant,p.=,ENST00000457913,NM_021224.4;ZNF462,synonymous_variant,p.=,ENST00000374686,;ZNF462,synonymous_variant,p.=,ENST00000441147,;ZNF462,intron_variant,,ENST00000472574,;ZNF462,upstream_gene_variant,,ENST00000542028,;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,;ZNF462,intron_variant,,ENST00000480607,;ZNF462,upstream_gene_variant,,ENST00000497489,;ZNF462,upstream_gene_variant,,ENST00000479166,;ZNF462,upstream_gene_variant,,ENST00000469433,;ZNF462,upstream_gene_variant,,ENST00000471032,;							LOW	4203/7521		ZN462_HUMAN			Transcript			.	ENSP00000277225		CCDS35096.1			1	
PRODH	0	LGGM	GRCh37	22	18907275	18907275	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000357068.6:c.1048G>A	p.Glu350Lys	p.E350K	ENST00000357068	NM_016335.4	350	Gag/Aag	0	1	1	UPI00001AE5E1	0	NA	ENST00000357068		ENSG00000100033	9453		31	1.99		HGNC	p.E242K		PRODH		SNV			1				ENST00000334029	protein_coding	getma.org/?cm=var&var=hg19,22,18907275,C,T&fts=all		Gene3D:3.20.20.220,Pfam_domain:PF01619,hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF4		E/K		T	medium	1314/2462		getma.org/?cm=msa&ty=f&p=PROD_HUMAN&rb=227&re=582&var=E350K	tolerated(0.26)	E7EQL6_HUMAN,C9JIW4_HUMAN			YES	PRODH,missense_variant,p.Glu350Lys,ENST00000357068,NM_016335.4;PRODH,missense_variant,p.Glu242Lys,ENST00000420436,;PRODH,missense_variant,p.Glu242Lys,ENST00000334029,NM_001195226.1;PRODH,downstream_gene_variant,,ENST00000450579,;PRODH,downstream_gene_variant,,ENST00000438924,;PRODH,downstream_gene_variant,,ENST00000457083,;PRODH,non_coding_transcript_exon_variant,,ENST00000609229,;PRODH,non_coding_transcript_exon_variant,,ENST00000482858,;PRODH,non_coding_transcript_exon_variant,,ENST00000491604,;PRODH,non_coding_transcript_exon_variant,,ENST00000313755,;PRODH,non_coding_transcript_exon_variant,,ENST00000429300,;PRODH,non_coding_transcript_exon_variant,,ENST00000446371,;PRODH,downstream_gene_variant,,ENST00000496625,;PRODH,downstream_gene_variant,,ENST00000399694,;							MODERATE	1048/1803	E350K	PROD_HUMAN			Transcript		benign(0.029)	.	ENSP00000349577		CCDS13754.1			1	
BTBD3	0	LGGM	GRCh37	20	11903846	11903846	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	5	.	.	ENST00000405977.1:c.1101T>C	p.Arg367=	p.R367=	ENST00000405977	NM_001282554.1	367	cgT/cgC	0	1		UPI0000126B03	0		ENST00000378226		ENSG00000132640	15854		53			HGNC	p.R306R		BTBD3		SNV							ENST00000399006	protein_coding			hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF104		R		C		1460/4857				Q9NST6_HUMAN,Q52M42_HUMAN,B4DK27_HUMAN,B0QYR1_HUMAN,B0QYR0_HUMAN,B0QYQ9_HUMAN				BTBD3,synonymous_variant,p.=,ENST00000405977,NM_001282554.1,NM_001282550.1;BTBD3,synonymous_variant,p.=,ENST00000378226,NM_014962.2,NM_001282554.1,NM_001282550.1;BTBD3,synonymous_variant,p.=,ENST00000399006,NM_001282554.1,NM_001282551.1;BTBD3,synonymous_variant,p.=,ENST00000254977,NM_181443.1,NM_001282554.1;BTBD3,downstream_gene_variant,,ENST00000422390,;BTBD3,downstream_gene_variant,,ENST00000430557,;BTBD3,downstream_gene_variant,,ENST00000455911,;BTBD3,downstream_gene_variant,,ENST00000450368,;RP4-742J24.2,upstream_gene_variant,,ENST00000439529,;BTBD3,downstream_gene_variant,,ENST00000488503,;BTBD3,downstream_gene_variant,,ENST00000471120,;BTBD3,downstream_gene_variant,,ENST00000473180,;BTBD3,downstream_gene_variant,,ENST00000473416,;BTBD3,downstream_gene_variant,,ENST00000449299,;							LOW	1101/1569		BTBD3_HUMAN			Transcript			.	ENSP00000367471		CCDS13113.1			1	
OBP2B	0	LGGM	GRCh37	9	136083310	136083310	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	5	.	.	ENST00000372034.3:c.277+210C>T		*93*	ENST00000372034	NM_014581.2			0	1	1	UPI00000377BC	0		ENST00000372034		ENSG00000171102	23381		23			HGNC	p.D100D		OBP2B		SNV							ENST00000473737	protein_coding							A		-/691							YES	OBP2B,intron_variant,,ENST00000372034,NM_014581.2;OBP2B,intron_variant,,ENST00000372032,;OBP2B,intron_variant,,ENST00000461961,;OBP2B,synonymous_variant,p.=,ENST00000473737,;							MODIFIER	-/513		OBP2B_HUMAN			Transcript			.	ENSP00000361104		CCDS6961.1			1	
KIAA1324L	0	LGGM	GRCh37	7	86542393	86542393	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000450689.2:c.1859C>T	p.Pro620Leu	p.P620L	ENST00000450689	NM_001142749.2	620	cCc/cTc	0	1	1	UPI000173AA00	0	NA	ENST00000450689		ENSG00000164659	21945		26	2.785		HGNC	p.P380L	rs375062890	KIAA1324L	6.06E-05	SNV	A:0.0002			9.61E-05			ENST00000297222	protein_coding	getma.org/?cm=var&var=hg19,7,86542393,G,A&fts=all		hmmpanther:PTHR22727:SF3,hmmpanther:PTHR22727,Superfamily_domains:SSF57184		P/L	A:0	A	medium	2045/6841		getma.org/?cm=msa&ty=f&p=K132L_HUMAN&rb=601&re=800&var=P620L	deleterious(0.03)	F1LLU5_HUMAN,C9JFK7_HUMAN			YES	KIAA1324L,missense_variant,p.Pro620Leu,ENST00000450689,NM_001142749.2;KIAA1324L,missense_variant,p.Pro380Leu,ENST00000297222,;KIAA1324L,missense_variant,p.Pro453Leu,ENST00000416314,NM_152748.3;KIAA1324L,missense_variant,p.Pro581Leu,ENST00000423294,;KIAA1324L,intron_variant,,ENST00000444627,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000490995,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000474609,;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,;KIAA1324L,non_coding_transcript_exon_variant,,ENST00000470853,;KIAA1324L,upstream_gene_variant,,ENST00000427812,;							MODERATE	1859/3090	P620L	K132L_HUMAN			Transcript		possibly_damaging(0.498)	.	ENSP00000413445	1.65E-05	CCDS47632.1			1	
DAO	0	LGGM	GRCh37	12	109283311	109283311	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	5	.	.	ENST00000228476.3:c.376C>T	p.Pro126Ser	p.P126S	ENST00000228476	NM_001917.4	126	Cca/Tca	0	1	1	UPI0000130F5F	0	getma.org/pdb.php?prot=OXDA_HUMAN&from=2&to=329&var=P126S	ENST00000228476		ENSG00000110887	2671		22	2.455		HGNC	p.P126S		DAO		SNV			1				ENST00000228476	protein_coding	getma.org/?cm=var&var=hg19,12,109283311,C,T&fts=all		Pfam_domain:PF01266,PIRSF_domain:PIRSF000189,hmmpanther:PTHR11530,hmmpanther:PTHR11530:SF5,Superfamily_domains:SSF51971		P/S		T	medium	580/1756		getma.org/?cm=msa&ty=f&p=OXDA_HUMAN&rb=2&re=329&var=P126S	deleterious(0)	Q7Z312_HUMAN,F8W152_HUMAN,F8VV35_HUMAN			YES	DAO,missense_variant,p.Pro126Ser,ENST00000228476,NM_001917.4;DAO,missense_variant,p.Pro3Ser,ENST00000547768,;DAO,missense_variant,p.Pro126Ser,ENST00000547166,;DAO,intron_variant,,ENST00000551281,;DAO,3_prime_UTR_variant,,ENST00000547122,;DAO,intron_variant,,ENST00000549215,;							MODERATE	376/1044	P126S	OXDA_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000228476		CCDS9122.1			1	
ITPR3	0	LGGM	GRCh37	6	33639896	33639896	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	5	.	.	ENST00000374316.5:c.2819G>A	p.Ser940Asn	p.S940N	ENST00000374316		940	aGc/aAc	0	1	1	UPI000013CB74	0	NA	ENST00000374316		ENSG00000096433	6182		32	0.345		HGNC	p.S940N	rs767374802	ITPR3		SNV							ENST00000374316	protein_coding	getma.org/?cm=var&var=hg19,6,33639896,G,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF51,Low_complexity_(Seg):seg		S/N		A	neutral	3879/9870	1.50E-05	getma.org/?cm=msa&ty=f&p=ITPR3_HUMAN&rb=878&re=1077&var=S940N	tolerated(0.3)	A6H8K3_HUMAN			YES	ITPR3,missense_variant,p.Ser940Asn,ENST00000374316,;ITPR3,missense_variant,p.Ser940Asn,ENST00000605930,NM_002224.3;							MODERATE	2819/8016	S940N	ITPR3_HUMAN			Transcript		benign(0.001)	.	ENSP00000363435	8.24E-06	CCDS4783.1			1	
TRAV6	0	LGGM	GRCh37	14	22237105	22237105	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	5	.	.	ENST00000390428.3:c.182C>T	p.Thr61Ile	p.T61I	ENST00000390428		61	aCc/aTc	0	1	1	UPI000204A972	0		ENST00000390428		ENSG00000211780	12144		20			HGNC	p.T61I		TRAV6		SNV							ENST00000390428	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19433,Gene3D:2.60.40.10,Pfam_domain:PF07686,SMART_domains:SM00406,Superfamily_domains:SSF48726		T/I		T		189/404			deleterious(0.03)				YES	TRAV6,missense_variant,p.Thr61Ile,ENST00000390428,;							MODERATE	182/397					Transcript		possibly_damaging(0.815)	.	ENSP00000438290					1	
B4GALNT1	0	LGGM	GRCh37	12	58023993	58023993	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000341156.4:c.654G>A	p.Arg218=	p.R218=	ENST00000341156	NM_001478.4	218	agG/agA	0	1	1	UPI0000126DD5	0		ENST00000341156		ENSG00000135454	4117		26			HGNC	p.A205T		B4GALNT1		SNV			1				ENST00000552798	protein_coding			hmmpanther:PTHR15046,hmmpanther:PTHR15046:SF1,PIRSF_domain:PIRSF000474		R		T		1239/3036				F8VW33_HUMAN,F8VU35_HUMAN,F8VR44_HUMAN,F8TDK4_HUMAN			YES	B4GALNT1,synonymous_variant,p.=,ENST00000341156,NM_001478.4;B4GALNT1,synonymous_variant,p.=,ENST00000550764,NM_001276469.1;B4GALNT1,synonymous_variant,p.=,ENST00000418555,NM_001276468.1;B4GALNT1,synonymous_variant,p.=,ENST00000552350,;B4GALNT1,synonymous_variant,p.=,ENST00000449184,;B4GALNT1,synonymous_variant,p.=,ENST00000548888,;SLC26A10,downstream_gene_variant,,ENST00000379218,;SLC26A10,downstream_gene_variant,,ENST00000320442,NM_133489.2;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,missense_variant,p.Ala205Thr,ENST00000552798,;B4GALNT1,synonymous_variant,p.=,ENST00000549391,;B4GALNT1,non_coding_transcript_exon_variant,,ENST00000553142,;B4GALNT1,upstream_gene_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,;							LOW	654/1602		B4GN1_HUMAN			Transcript			.	ENSP00000341562		CCDS8950.1			1	
SORCS2	0	LGGM	GRCh37	4	7698929	7698929	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	6	5	.	.	ENST00000507866.2:c.1596C>T	p.Asn532=	p.N532=	ENST00000507866	NM_020777.2	532	aaC/aaT	0	1	1	UPI0000EE6E4F	0		ENST00000507866		ENSG00000184985	16698		11			HGNC	p.N360N	rs201458759	SORCS2		SNV	T:0.0005			0.00133			ENST00000329016	protein_coding		A:0	hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF9,Gene3D:2.130.10.140,SMART_domains:SM00602,Superfamily_domains:SSF110296		N	T:0	T		1705/6152					A:0.0014	A:0	YES	SORCS2,synonymous_variant,p.=,ENST00000507866,NM_020777.2;SORCS2,synonymous_variant,p.=,ENST00000329016,;		A:0.0002					LOW	1596/3480		SORC2_HUMAN		A:0	Transcript			common_variant	ENSP00000422185	5.02E-05	CCDS47008.1		A:0	1	
TRPM6	0	LGGM	GRCh37	9	77353475	77353475	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	5	.	.	ENST00000360774.1:c.5624T>C	p.Ile1875Thr	p.I1875T	ENST00000360774	NM_017662.4	1875	aTt/aCt	0	1	1	UPI000006E041	0	getma.org/pdb.php?prot=TRPM6_HUMAN&from=1774&to=1972&var=I1875T	ENST00000360774		ENSG00000119121	17995		39	2.44		HGNC	p.I1879T		TRPM6		SNV			1				ENST00000376864	protein_coding	getma.org/?cm=var&var=hg19,9,77353475,A,G&fts=all		PROSITE_profiles:PS51158,hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800,Pfam_domain:PF02816,Gene3D:3.30.200.20,SMART_domains:SM00811,Superfamily_domains:SSF56112		I/T		G	medium	5862/8425		getma.org/?cm=msa&ty=f&p=TRPM6_HUMAN&rb=1774&re=1972&var=I1875T	deleterious(0)				YES	TRPM6,missense_variant,p.Ile1879Thr,ENST00000451710,;TRPM6,missense_variant,p.Ile1875Thr,ENST00000360774,NM_017662.4;TRPM6,missense_variant,p.Ile1870Thr,ENST00000361255,NM_001177311.1;TRPM6,missense_variant,p.Ile1870Thr,ENST00000449912,NM_001177310.1;TRPM6,missense_variant,p.Ile1879Thr,ENST00000376864,;TRPM6,missense_variant,p.Ile830Thr,ENST00000376872,;TRPM6,missense_variant,p.Ile712Thr,ENST00000376871,;							MODERATE	5624/6069	I1875T	TRPM6_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000354006		CCDS6647.1			1	
PCDH18	0	LGGM	GRCh37	4	138450772	138450772	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	5	.	.	ENST00000344876.4:c.2471C>T	p.Ala824Val	p.A824V	ENST00000344876	NM_019035.3	824	gCc/gTc	0	1	1	UPI0000047A88	0	NA	ENST00000344876		ENSG00000189184	14268		17	1.01		HGNC	p.A824V		PCDH18		SNV							ENST00000412923	protein_coding	getma.org/?cm=var&var=hg19,4,138450772,G,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF9		A/V		A	low	2858/5906		getma.org/?cm=msa&ty=f&p=PCD18_HUMAN&rb=677&re=876&var=A824V	tolerated(0.09)	Q9NT87_HUMAN,B4DQ29_HUMAN			YES	PCDH18,missense_variant,p.Ala824Val,ENST00000344876,NM_019035.3;PCDH18,missense_variant,p.Ala824Val,ENST00000412923,;PCDH18,missense_variant,p.Ala604Val,ENST00000507846,;PCDH18,missense_variant,p.Ala35Val,ENST00000510305,;PCDH18,intron_variant,,ENST00000511115,;							MODERATE	2471/3408	A824V	PCD18_HUMAN			Transcript		benign(0.022)	.	ENSP00000355082		CCDS34064.1			1	
C1orf65	0	LGGM	GRCh37	1	223568146	223568146	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	5	.	.	ENST00000366875.3:c.1329T>A	p.Ala443=	p.A443=	ENST00000366875	NM_152610.2	443	gcT/gcA	0	1	1	UPI000006F948	0		ENST00000366875		ENSG00000178395	26654		24			HGNC	p.A443A		C1orf65		SNV							ENST00000366875	protein_coding			Pfam_domain:PF15558		A		A		1432/2098							YES	C1orf65,synonymous_variant,p.=,ENST00000366875,NM_152610.2;							LOW	1329/1872		CA065_HUMAN			Transcript			.	ENSP00000355840		CCDS1537.1			1	
SLC22A3	0	LGGM	GRCh37	6	160829906	160829906	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000275300.2:c.810C>T	p.Ile270=	p.I270=	ENST00000275300	NM_021977.3	270	atC/atT	0	1	1	UPI0000130BB7	0		ENST00000275300		ENSG00000146477	10967		31			HGNC	p.I270I	rs544241984,COSM3622526	SLC22A3	0.000121	SNV						0,1	ENST00000275300	protein_coding		T:0	Superfamily_domains:SSF103473,Pfam_domain:PF07690,TIGRFAM_domain:TIGR00898,Gene3D:1.20.1250.20,hmmpanther:PTHR24064:SF52,hmmpanther:PTHR24064,PROSITE_profiles:PS50850,Transmembrane_helices:TMhelix		I		T		962/3348				Q9NQC0_HUMAN	T:0	T:0	YES	SLC22A3,synonymous_variant,p.=,ENST00000392145,;SLC22A3,synonymous_variant,p.=,ENST00000275300,NM_021977.3;AL591069.1,downstream_gene_variant,,ENST00000541740,;		T:0.0002			0,1		LOW	810/1671		S22A3_HUMAN		T:0	Transcript			.	ENSP00000275300	1.65E-05	CCDS5277.1		T:0.001	1	
CYP4V2	0	LGGM	GRCh37	4	187115765	187115765	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	5	.	.	ENST00000378802.4:c.326A>C	p.Glu109Ala	p.E109A	ENST00000378802	NM_207352.3	109	gAg/gCg	0	1	1	UPI00002372FE	0	getma.org/pdb.php?prot=CP4V2_HUMAN&from=51&to=517&var=E109A	ENST00000378802		ENSG00000145476	23198		23	2.405		HGNC	p.E109A		CYP4V2		SNV			1				ENST00000378802	protein_coding	getma.org/?cm=var&var=hg19,4,187115765,A,C&fts=all		Gene3D:1.10.630.10,Pfam_domain:PF00067,hmmpanther:PTHR24290,hmmpanther:PTHR24290:SF60,Superfamily_domains:SSF48264		E/A		C	medium	630/2042		getma.org/?cm=msa&ty=f&p=CP4V2_HUMAN&rb=51&re=517&var=E109A	deleterious(0)	Q49AA5_HUMAN			YES	CYP4V2,missense_variant,p.Glu109Ala,ENST00000378802,NM_207352.3;AC110771.1,upstream_gene_variant,,ENST00000596414,;CYP4V2,upstream_gene_variant,,ENST00000507209,;							MODERATE	326/1578	E109A	CP4V2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000368079		CCDS34119.1			1	
CAPZA2	0	LGGM	GRCh37	7	116528238	116528238	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	5	.	.	ENST00000361183.3:c.97T>C	p.Phe33Leu	p.F33L	ENST00000361183	NM_006136.2	33	Ttc/Ctc	0	1	1	UPI00001270FC	0	getma.org/pdb.php?prot=CAZA2_HUMAN&from=12&to=282&var=F33L	ENST00000361183		ENSG00000198898	1490		55	1.75		HGNC	p.F33L		CAPZA2		SNV							ENST00000490693	protein_coding	getma.org/?cm=var&var=hg19,7,116528238,T,C&fts=all		hmmpanther:PTHR10653:SF2,hmmpanther:PTHR10653,Pfam_domain:PF01267,Superfamily_domains:SSF90096		F/L		C	low	236/5182		getma.org/?cm=msa&ty=f&p=CAZA2_HUMAN&rb=12&re=282&var=F33L	tolerated(0.06)	A4D0V4_HUMAN			YES	CAPZA2,missense_variant,p.Phe33Leu,ENST00000361183,NM_006136.2;CAPZA2,missense_variant,p.Phe33Leu,ENST00000458284,;CAPZA2,missense_variant,p.Phe33Leu,ENST00000490693,;CAPZA2,synonymous_variant,p.=,ENST00000484325,;CAPZA2,synonymous_variant,p.=,ENST00000464223,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000417431,;CAPZA2,intron_variant,,ENST00000414148,;CAPZA2,missense_variant,p.Phe33Leu,ENST00000426421,;CAPZA2,3_prime_UTR_variant,,ENST00000449080,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000464669,;CAPZA2,non_coding_transcript_exon_variant,,ENST00000461878,;							MODERATE	97/861	F33L	CAZA2_HUMAN			Transcript		benign(0.444)	.	ENSP00000354947		CCDS5768.1			1	
SH3BP4	0	LGGM	GRCh37	2	235951565	235951565	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	5	.	.	ENST00000409212.1:c.2152A>T	p.Asn718Tyr	p.N718Y	ENST00000409212		718	Aac/Tac	0	1		UPI000006DA47	0	NA	ENST00000344528		ENSG00000130147	10826		22	2.36		HGNC	p.N718Y		SH3BP4		SNV							ENST00000409212	protein_coding	getma.org/?cm=var&var=hg19,2,235951565,A,T&fts=all		hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603,Pfam_domain:PF07653		N/Y		T	medium	2472/5044		getma.org/?cm=msa&ty=f&p=SH3B4_HUMAN&rb=658&re=722&var=N718Y	deleterious(0)	C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN				SH3BP4,missense_variant,p.Asn718Tyr,ENST00000409212,;SH3BP4,missense_variant,p.Asn718Tyr,ENST00000392011,NM_014521.2;SH3BP4,missense_variant,p.Asn718Tyr,ENST00000344528,;SH3BP4,downstream_gene_variant,,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;							MODERATE	2152/2892	N718Y	SH3B4_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340237		CCDS2513.1			1	
FGD5	0	LGGM	GRCh37	3	14860800	14860800	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	5	.	.	ENST00000285046.5:c.222G>A	p.Arg74=	p.R74=	ENST00000285046	NM_152536.3	74	agG/agA	0	1	1	UPI00002372AE	0		ENST00000285046		ENSG00000154783	19117		16			HGNC	p.R74R		FGD5		SNV							ENST00000285046	protein_coding					R		A		332/5720				A3KMQ0_HUMAN			YES	FGD5,synonymous_variant,p.=,ENST00000285046,NM_152536.3;FGD5,upstream_gene_variant,,ENST00000543601,;FGD5,upstream_gene_variant,,ENST00000457774,;							LOW	222/4389		FGD5_HUMAN			Transcript			.	ENSP00000285046		CCDS46767.1			1	
WDR41	0	LGGM	GRCh37	5	76736757	76736757	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	5	.	.	ENST00000296679.4:c.763A>T	p.Met255Leu	p.M255L	ENST00000296679	NM_018268.2	255	Atg/Ttg	0	1	1	UPI00000744EF	0	NA	ENST00000296679		ENSG00000164253	25601		29	1.1		HGNC	p.M47L		WDR41		SNV							ENST00000511791	protein_coding	getma.org/?cm=var&var=hg19,5,76736757,T,A&fts=all		Superfamily_domains:SSF50978,Gene3D:2.130.10.10,hmmpanther:PTHR22805,hmmpanther:PTHR22805:SF2		M/L		A	low	1139/3958		getma.org/?cm=msa&ty=f&p=WDR41_HUMAN&rb=120&re=316&var=M255L	tolerated(0.28)	B4E2L4_HUMAN			YES	WDR41,start_lost,p.Met1?,ENST00000414719,;WDR41,missense_variant,p.Met255Leu,ENST00000296679,NM_018268.2;WDR41,missense_variant,p.Met200Leu,ENST00000507029,;WDR41,missense_variant,p.Met190Leu,ENST00000515253,;WDR41,missense_variant,p.Met26Leu,ENST00000507654,;WDR41,missense_variant,p.Met81Leu,ENST00000511630,;WDR41,missense_variant,p.Met47Leu,ENST00000511791,;WDR41,upstream_gene_variant,,ENST00000512033,;WDR41,3_prime_UTR_variant,,ENST00000505129,;WDR41,3_prime_UTR_variant,,ENST00000509701,;WDR41,3_prime_UTR_variant,,ENST00000506307,;WDR41,non_coding_transcript_exon_variant,,ENST00000502528,;							MODERATE	763/1380	M255L	WDR41_HUMAN			Transcript		benign(0.002)	.	ENSP00000296679		CCDS4038.1			1	
CDH7	0	LGGM	GRCh37	18	63491997	63491997	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	5	.	.	ENST00000397968.2:c.911G>A	p.Gly304Asp	p.G304D	ENST00000397968	NM_004361.2	304	gGt/gAt	0	1		UPI000013D269	0	getma.org/pdb.php?prot=CADH7_HUMAN&from=267&to=369&var=G304D	ENST00000323011		ENSG00000081138	1766		38	2.41		HGNC	p.G304D	rs756859953	CDH7	0.000182	SNV							ENST00000536984	protein_coding	getma.org/?cm=var&var=hg19,18,63491997,G,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF91,SMART_domains:SM00112,Superfamily_domains:SSF49313		G/D		A	medium	1236/2728		getma.org/?cm=msa&ty=f&p=CADH7_HUMAN&rb=267&re=369&var=G304D	tolerated(0.11)					CDH7,missense_variant,p.Gly304Asp,ENST00000536984,;CDH7,missense_variant,p.Gly304Asp,ENST00000397968,NM_004361.2;CDH7,missense_variant,p.Gly304Asp,ENST00000323011,NM_033646.1;							MODERATE	911/2358	G304D	CADH7_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000319166	2.47E-05	CCDS11993.1			1	
FMO3	0	LGGM	GRCh37	1	171061840	171061840	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000367755.4:c.41G>A	p.Gly14Asp	p.G14D	ENST00000367755	NM_001002294.2	14	gGc/gAc	0	1	1	UPI000016A103	0	getma.org/pdb.php?prot=FMO3_HUMAN&from=2&to=532&var=G14D	ENST00000367755		ENSG00000007933	3771		31	4.52		HGNC	p.G14D		FMO3		SNV			1				ENST00000367755	protein_coding	getma.org/?cm=var&var=hg19,1,171061840,G,A&fts=all		Gene3D:3.50.50.60,Pfam_domain:PF00743,PIRSF_domain:PIRSF000332,Prints_domain:PR00370,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF44,Superfamily_domains:SSF51905		G/D		A	high	152/2087		getma.org/?cm=msa&ty=f&p=FMO3_HUMAN&rb=2&re=532&var=G14D	deleterious(0)				YES	FMO3,missense_variant,p.Gly14Asp,ENST00000367755,NM_001002294.2;FMO3,missense_variant,p.Gly14Asp,ENST00000392085,NM_006894.5;FMO3,missense_variant,p.Gly14Asp,ENST00000538429,;FMO3,missense_variant,p.Gly14Asp,ENST00000479749,;FMO3,5_prime_UTR_variant,,ENST00000542847,;FMO3,non_coding_transcript_exon_variant,,ENST00000534514,;FMO3,non_coding_transcript_exon_variant,,ENST00000530212,;FMO3,missense_variant,p.Gly14Asp,ENST00000472784,;							MODERATE	41/1599	G14D	FMO3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000356729		CCDS1292.1			1	
GRIA2	0	LGGM	GRCh37	4	158254479	158254479	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	5	.	.	ENST00000296526.7:c.1129G>A	p.Glu377Lys	p.E377K	ENST00000296526	NM_000826.3	377	Gag/Aag	0	1		UPI000012B7C2	0	getma.org/pdb.php?prot=GRIA2_HUMAN&from=48&to=379&var=E377K	ENST00000264426		ENSG00000120251	4572		23	2.045		HGNC	p.E377K		GRIA2		SNV							ENST00000264426	protein_coding	getma.org/?cm=var&var=hg19,4,158254479,G,A&fts=all		hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF99,Pfam_domain:PF01094,Gene3D:3.40.190.10,Superfamily_domains:SSF53822		E/K		A	medium	1408/3445		getma.org/?cm=msa&ty=f&p=GRIA2_HUMAN&rb=48&re=379&var=E377K	deleterious(0.02)	D6RFM6_HUMAN,D6REK8_HUMAN,D6RDX5_HUMAN,D6RBV7_HUMAN,D6R9Z0_HUMAN				GRIA2,missense_variant,p.Glu377Lys,ENST00000296526,NM_000826.3;GRIA2,missense_variant,p.Glu330Lys,ENST00000393815,NM_001083620.1;GRIA2,missense_variant,p.Glu330Lys,ENST00000449365,;GRIA2,missense_variant,p.Glu377Lys,ENST00000264426,NM_001083619.1;GRIA2,missense_variant,p.Glu330Lys,ENST00000507898,;GRIA2,missense_variant,p.Glu330Lys,ENST00000323661,;GRIA2,non_coding_transcript_exon_variant,,ENST00000471736,;							MODERATE	1129/2652	E377K	GRIA2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264426		CCDS43274.1			1	
RASGRP2	0	LGGM	GRCh37	11	64506854	64506854	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	5	.	.	ENST00000354024.3:c.791A>G	p.His264Arg	p.H264R	ENST00000354024	NM_153819.1	264	cAc/cGc	0	1	1	UPI0000161186	0	getma.org/pdb.php?prot=GRP2_HUMAN&from=151&to=336&var=H264R	ENST00000354024		ENSG00000068831	9879		17	1.19		HGNC	p.H264R		RASGRP2		SNV			1				ENST00000377494	protein_coding	getma.org/?cm=var&var=hg19,11,64506854,T,C&fts=all		Superfamily_domains:0041591,SMART_domains:SM00147,Pfam_domain:PF00617,Gene3D:2ii0A02,hmmpanther:PTHR23113:SF16,hmmpanther:PTHR23113,PROSITE_profiles:PS50009		H/R		C	low	1044/2310		getma.org/?cm=msa&ty=f&p=GRP2_HUMAN&rb=151&re=336&var=H264R	deleterious(0.05)	Q2YDB1_HUMAN,E7EM78_HUMAN,C9JZ82_HUMAN,A6NHE2_HUMAN			YES	RASGRP2,missense_variant,p.His264Arg,ENST00000377494,;RASGRP2,missense_variant,p.His264Arg,ENST00000354024,NM_153819.1;RASGRP2,missense_variant,p.His264Arg,ENST00000394432,NM_001098671.1;RASGRP2,missense_variant,p.His264Arg,ENST00000377497,NM_001098670.1;RASGRP2,downstream_gene_variant,,ENST00000394430,;RASGRP2,downstream_gene_variant,,ENST00000431822,;RASGRP2,downstream_gene_variant,,ENST00000377486,;RASGRP2,downstream_gene_variant,,ENST00000377487,;RASGRP2,downstream_gene_variant,,ENST00000430645,;RASGRP2,downstream_gene_variant,,ENST00000377489,;RASGRP2,downstream_gene_variant,,ENST00000394429,;RASGRP2,downstream_gene_variant,,ENST00000394428,;RASGRP2,downstream_gene_variant,,ENST00000377485,;RASGRP2,downstream_gene_variant,,ENST00000419843,;RASGRP2,3_prime_UTR_variant,,ENST00000421556,;RASGRP2,3_prime_UTR_variant,,ENST00000445445,;RASGRP2,non_coding_transcript_exon_variant,,ENST00000464324,;RASGRP2,upstream_gene_variant,,ENST00000488071,;RASGRP2,upstream_gene_variant,,ENST00000465852,;RASGRP2,upstream_gene_variant,,ENST00000494001,;RASGRP2,upstream_gene_variant,,ENST00000497441,;RASGRP2,downstream_gene_variant,,ENST00000441258,;RASGRP2,downstream_gene_variant,,ENST00000480443,;							MODERATE	791/1830	H264R	GRP2_HUMAN			Transcript		benign(0.063)	.	ENSP00000338864		CCDS31598.1			1	
MALRD1	0	LGGM	GRCh37	10	19678172	19678172	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	118	5	.	.	ENST00000377266.3:c.2675A>G	p.Lys892Arg	p.K892R	ENST00000377266		892	aAg/aGg	0	1		UPI0001B3055B	0		ENST00000454679		ENSG00000204740	24331		123			HGNC	p.K892R		MALRD1		SNV							ENST00000377266	protein_coding			hmmpanther:PTHR23282,hmmpanther:PTHR23282:SF65		K/R		G		2636/4661			tolerated(0.34)					MALRD1,missense_variant,p.Lys879Arg,ENST00000454679,;MALRD1,missense_variant,p.Lys892Arg,ENST00000377266,;MALRD1,intron_variant,,ENST00000441070,;							MODERATE	2636/4422		CJ112_HUMAN			Transcript		benign(0.027)	.	ENSP00000412763					1	
OR4B1	0	LGGM	GRCh37	11	48239037	48239037	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	5	.	.	ENST00000309562.2:c.676C>T	p.His226Tyr	p.H226Y	ENST00000309562	NM_001005470.1	226	Cat/Tat	0	1	1	UPI0000041BD9	0	NA	ENST00000309562		ENSG00000175619	8290		36	1.38		HGNC	p.H226Y	COSM374031	OR4B1		SNV						1	ENST00000309562	protein_coding	getma.org/?cm=var&var=hg19,11,48239037,C,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26451:SF23,hmmpanther:PTHR26451,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		H/Y		T	low	694/971		getma.org/?cm=msa&ty=f&p=OR4B1_HUMAN&rb=137&re=278&var=H226Y	tolerated(0.11)				YES	OR4B1,missense_variant,p.His226Tyr,ENST00000309562,NM_001005470.1;					1		MODERATE	676/930	H226Y	OR4B1_HUMAN			Transcript		benign(0.05)	.	ENSP00000311605		CCDS31485.1			1	
CHD4	0	LGGM	GRCh37	12	6701116	6701116	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000357008.2:c.3056G>A	p.Cys1019Tyr	p.C1019Y	ENST00000357008	NM_001273.2	1019	tGc/tAc	0	1	1	UPI000013C8EF	0	getma.org/pdb.php?prot=CHD4_HUMAN&from=729&to=1025&var=C1019Y	ENST00000357008		ENSG00000111642	1919		31	3.545		HGNC	p.C1012Y		CHD4		SNV							ENST00000544040	protein_coding	getma.org/?cm=var&var=hg19,12,6701116,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF554,Superfamily_domains:SSF52540		C/Y		T	high	3220/6496		getma.org/?cm=msa&ty=f&p=CHD4_HUMAN&rb=729&re=1025&var=C1019Y	deleterious(0)	F5H6N4_HUMAN			YES	CHD4,missense_variant,p.Cys1019Tyr,ENST00000309577,;CHD4,missense_variant,p.Cys1016Tyr,ENST00000544484,;CHD4,missense_variant,p.Cys1012Tyr,ENST00000544040,;CHD4,missense_variant,p.Cys1019Tyr,ENST00000357008,NM_001273.2;CHD4,upstream_gene_variant,,ENST00000540960,;CHD4,downstream_gene_variant,,ENST00000536999,;CHD4,upstream_gene_variant,,ENST00000536301,;CHD4,non_coding_transcript_exon_variant,,ENST00000537634,;CHD4,non_coding_transcript_exon_variant,,ENST00000545083,;							MODERATE	3056/5739	C1019Y	CHD4_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000349508		CCDS8552.1			1	
CCDC17	0	LGGM	GRCh37	1	46086722	46086722	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	5	.	.	ENST00000528266.1:c.1452G>T	p.Trp484Cys	p.W484C	ENST00000528266		484	tgG/tgT	0	1	1	UPI0001AE78A9	0	NA	ENST00000528266		ENSG00000159588	26574		36	1.79		HGNC	p.W484C		CCDC17		SNV							ENST00000528266	protein_coding	getma.org/?cm=var&var=hg19,1,46086722,C,A&fts=all				W/C		A	low	1600/2181		getma.org/?cm=msa&ty=f&p=CCD17_HUMAN&rb=384&re=583&var=W484C	deleterious(0)				YES	CCDC17,missense_variant,p.Trp475Cys,ENST00000421127,NM_001190182.1,NM_001114938.2;CCDC17,missense_variant,p.Trp484Cys,ENST00000528266,;CCDC17,missense_variant,p.Trp452Cys,ENST00000343901,;CCDC17,intron_variant,,ENST00000445048,;NASP,downstream_gene_variant,,ENST00000350030,NM_002482.3;NASP,downstream_gene_variant,,ENST00000402363,;NASP,downstream_gene_variant,,ENST00000537798,NM_001195193.1;NASP,downstream_gene_variant,,ENST00000351223,NM_152298.3;NASP,downstream_gene_variant,,ENST00000372052,;NASP,downstream_gene_variant,,ENST00000531612,;NASP,downstream_gene_variant,,ENST00000534450,;CCDC17,non_coding_transcript_exon_variant,,ENST00000464739,;NASP,downstream_gene_variant,,ENST00000530073,;CCDC17,missense_variant,p.Trp452Cys,ENST00000479529,;CCDC17,3_prime_UTR_variant,,ENST00000372044,;CCDC17,non_coding_transcript_exon_variant,,ENST00000482416,;CCDC17,non_coding_transcript_exon_variant,,ENST00000491755,;NASP,downstream_gene_variant,,ENST00000481782,;CCDC17,downstream_gene_variant,,ENST00000525599,;NASP,downstream_gene_variant,,ENST00000472408,;							MODERATE	1452/1869	W484C	CCD17_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000432172		CCDS44131.2			1	
ADAMTS7	0	LGGM	GRCh37	15	79067068	79067068	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	5	.	.	ENST00000388820.4:c.1774T>A	p.Cys592Ser	p.C592S	ENST00000388820	NM_014272.3	592	Tgc/Agc	0	1	1	UPI00002263B3	0	getma.org/pdb.php?prot=ATS7_HUMAN&from=542&to=592&var=C592S	ENST00000388820		ENSG00000136378	223		22	4.34		HGNC	p.C592S		ADAMTS7		SNV							ENST00000388820	protein_coding	getma.org/?cm=var&var=hg19,15,79067068,A,T&fts=all		Gene3D:2.20.100.10,Pfam_domain:PF00090,PROSITE_profiles:PS50092,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF142,SMART_domains:SM00209,Superfamily_domains:SSF82895		C/S		T	high	1985/5490		getma.org/?cm=msa&ty=f&p=ATS7_HUMAN&rb=542&re=592&var=C592S	deleterious(0)				YES	ADAMTS7,missense_variant,p.Cys592Ser,ENST00000388820,NM_014272.3;ADAMTS7,intron_variant,,ENST00000566303,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000565793,;ADAMTS7,non_coding_transcript_exon_variant,,ENST00000568712,;							MODERATE	1774/5061	C592S	ATS7_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000373472		CCDS32303.1			1	
AKAP9	0	LGGM	GRCh37	7	91690730	91690730	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000356239.3:c.5758G>A	p.Ala1920Thr	p.A1920T	ENST00000356239	NM_147185.2	1920	Gct/Act	0	1	1	UPI000002A38D	0	NA	ENST00000356239		ENSG00000127914	379		34	2.15		HGNC	p.A1932T		AKAP9		SNV			1				ENST00000358100	protein_coding	getma.org/?cm=var&var=hg19,7,91690730,G,A&fts=all		hmmpanther:PTHR18932,hmmpanther:PTHR18932:SF10		A/T		A	medium	5991/12471		getma.org/?cm=msa&ty=f&p=AKAP9_HUMAN&rb=922&re=2074&var=A1932T		Q8IW64_HUMAN			YES	AKAP9,missense_variant,p.Ala1932Thr,ENST00000359028,;AKAP9,missense_variant,p.Ala1920Thr,ENST00000356239,NM_147185.2,NM_005751.4;AKAP9,missense_variant,p.Ala1932Thr,ENST00000358100,;AKAP9,non_coding_transcript_exon_variant,,ENST00000491695,;							MODERATE	5758/11724	A1932T	AKAP9_HUMAN			Transcript		benign(0.27)	.	ENSP00000348573		CCDS5622.1			1	
SIGLEC12	0	LGGM	GRCh37	19	52003401	52003401	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	5	.	.	ENST00000291707.3:c.581G>T	p.Gly194Val	p.G194V	ENST00000291707	NM_053003.2	194	gGg/gTg	0	1	1	UPI0000135992	0	getma.org/pdb.php?prot=SIG12_HUMAN&from=151&to=270&var=G194V	ENST00000291707		ENSG00000254521	15482		47	2.33		HGNC	p.G76V		SIGLEC12		SNV							ENST00000598614	protein_coding	getma.org/?cm=var&var=hg19,19,52003401,C,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF43,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/V		A	medium	637/2121		getma.org/?cm=msa&ty=f&p=SIG12_HUMAN&rb=151&re=270&var=G194V	deleterious(0.01)				YES	SIGLEC12,missense_variant,p.Gly194Val,ENST00000291707,NM_053003.2;SIGLEC12,missense_variant,p.Gly76Val,ENST00000598614,NM_033329.1;SIGLEC12,intron_variant,,ENST00000596742,;CTD-3073N11.7,downstream_gene_variant,,ENST00000594712,;							MODERATE	581/1788	G194V	SIG12_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000291707		CCDS12833.1			1	
ACTN1	0	LGGM	GRCh37	14	69343906	69343906	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	5	.	.	ENST00000394419.4:c.2479G>A	p.Gly827Arg	p.G827R	ENST00000394419	NM_001130004.1	827	Ggg/Agg	0	1		UPI0000043C25	0	getma.org/pdb.php?prot=ACTN1_HUMAN&from=787&to=822&var=G805R	ENST00000193403		ENSG00000072110	163		25	3.15		HGNC	p.G805R		ACTN1		SNV			1				ENST00000193403	protein_coding	getma.org/?cm=var&var=hg19,14,69343906,C,T&fts=all		Gene3D:1.10.238.10,PROSITE_profiles:PS50222,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00054,Superfamily_domains:SSF47473		G/R		T	medium	2797/3779		getma.org/?cm=msa&ty=f&p=ACTN1_HUMAN&rb=787&re=822&var=G805R	deleterious(0)	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN				ACTN1,missense_variant,p.Gly805Arg,ENST00000193403,NM_001102.3;ACTN1,missense_variant,p.Gly827Arg,ENST00000394419,NM_001130004.1;ACTN1,missense_variant,p.Gly800Arg,ENST00000438964,NM_001130005.1;ACTN1,missense_variant,p.Gly735Arg,ENST00000376839,;ACTN1,missense_variant,p.Gly800Arg,ENST00000538545,;ACTN1,missense_variant,p.Gly164Arg,ENST00000555075,;ACTN1,downstream_gene_variant,,ENST00000544964,;ACTN1,downstream_gene_variant,,ENST00000553290,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,non_coding_transcript_exon_variant,,ENST00000553882,;ACTN1,downstream_gene_variant,,ENST00000556432,;							MODERATE	2413/2679	G805R	ACTN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000193403		CCDS9792.1			1	
PGAP3	0	LGGM	GRCh37	17	37829869	37829869	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000300658.4:c.592G>A	p.Ala198Thr	p.A198T	ENST00000300658	NM_033419.3	198	Gcc/Acc	0	1	1	UPI0000039EAA	0	NA	ENST00000300658		ENSG00000161395	23719		26	1.32		HGNC	p.A177T		PGAP3		SNV			1				ENST00000429199	protein_coding	getma.org/?cm=var&var=hg19,17,37829869,C,T&fts=all		Pfam_domain:PF04080,hmmpanther:PTHR13148,hmmpanther:PTHR13148:SF0,Transmembrane_helices:TMhelix		A/T		T	low	685/2737		getma.org/?cm=msa&ty=f&p=PGAP3_HUMAN&rb=51&re=307&var=A198T	tolerated(0.47)	J3QQL0_HUMAN,B4DVJ3_HUMAN			YES	PGAP3,missense_variant,p.Ala198Thr,ENST00000300658,NM_033419.3;PGAP3,missense_variant,p.Ala147Thr,ENST00000378011,;PGAP3,missense_variant,p.Ala177Thr,ENST00000429199,;PGAP3,intron_variant,,ENST00000579146,;PNMT,downstream_gene_variant,,ENST00000269582,NM_002686.4;PNMT,downstream_gene_variant,,ENST00000394246,;PNMT,downstream_gene_variant,,ENST00000581428,;PGAP3,3_prime_UTR_variant,,ENST00000577337,;PGAP3,non_coding_transcript_exon_variant,,ENST00000309862,;PGAP3,non_coding_transcript_exon_variant,,ENST00000580898,;PGAP3,downstream_gene_variant,,ENST00000584620,;PGAP3,downstream_gene_variant,,ENST00000582276,;							MODERATE	592/963	A198T	PGAP3_HUMAN			Transcript		benign(0.014)	.	ENSP00000300658		CCDS32641.1			1	
CMYA5	0	LGGM	GRCh37	5	79029755	79029755	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	113	5	.	.	ENST00000446378.2:c.5167C>A	p.Leu1723Ile	p.L1723I	ENST00000446378	NM_153610.3	1723	Cta/Ata	0	1	1	UPI00004F9478	0	NA	ENST00000446378		ENSG00000164309	14305		118	0.69		HGNC	p.L1723I		CMYA5		SNV							ENST00000446378	protein_coding	getma.org/?cm=var&var=hg19,5,79029755,C,A&fts=all		hmmpanther:PTHR24099,hmmpanther:PTHR24099:SF7		L/I		A	neutral	5198/12847		getma.org/?cm=msa&ty=f&p=CMYA5_HUMAN&rb=1601&re=1800&var=L1723I					YES	CMYA5,missense_variant,p.Leu1723Ile,ENST00000446378,NM_153610.3;CMYA5,upstream_gene_variant,,ENST00000506603,;							MODERATE	5167/12210	L1723I	CMYA5_HUMAN			Transcript		probably_damaging(0.952)	.	ENSP00000394770		CCDS47238.1			1	
RAVER2	0	LGGM	GRCh37	1	65273142	65273142	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	5	.	.	ENST00000371072.4:c.1626A>T	p.Thr542=	p.T542=	ENST00000371072	NM_018211.3	542	acA/acT	0	1		UPI000050AAAF	0		ENST00000294428		ENSG00000162437	25577		33			HGNC	p.T555T		RAVER2		SNV							ENST00000294428	protein_coding			hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF6		T		T		1743/4398								RAVER2,synonymous_variant,p.=,ENST00000294428,;RAVER2,synonymous_variant,p.=,ENST00000371072,NM_018211.3;RAVER2,intron_variant,,ENST00000430964,;RAVER2,intron_variant,,ENST00000418058,;							LOW	1665/2076		RAVR2_HUMAN			Transcript			.	ENSP00000294428					1	
UVRAG	0	LGGM	GRCh37	11	75852078	75852078	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	5	.	.	ENST00000356136.3:c.1721G>A	p.Gly574Glu	p.G574E	ENST00000356136	NM_003369.3	574	gGa/gAa	0	1	1	UPI0000137F03	0	NA	ENST00000356136		ENSG00000198382	12640		27	0.895		HGNC	p.G202E	rs752404371	UVRAG		SNV							ENST00000533454	protein_coding	getma.org/?cm=var&var=hg19,11,75852078,G,A&fts=all		hmmpanther:PTHR15157,hmmpanther:PTHR15157:SF5		G/E		A	low	1962/4123		getma.org/?cm=msa&ty=f&p=UVRAG_HUMAN&rb=471&re=697&var=G574E	tolerated_low_confidence(0.51)	E9PR71_HUMAN,E9PK00_HUMAN,B3KTC1_HUMAN			YES	UVRAG,missense_variant,p.Gly574Glu,ENST00000356136,NM_003369.3;UVRAG,missense_variant,p.Gly202Glu,ENST00000531818,;UVRAG,missense_variant,p.Gly473Glu,ENST00000528420,;UVRAG,missense_variant,p.Gly202Glu,ENST00000532130,;UVRAG,missense_variant,p.Gly202Glu,ENST00000533454,;UVRAG,missense_variant,p.Gly202Glu,ENST00000539288,;UVRAG,missense_variant,p.Gly130Glu,ENST00000538870,;CTD-2011F17.2,upstream_gene_variant,,ENST00000529298,;UVRAG,3_prime_UTR_variant,,ENST00000525183,;	0.000116						MODERATE	1721/2100	G574E	UVRAG_HUMAN			Transcript		benign(0.004)	.	ENSP00000348455	8.24E-06	CCDS8241.1			1	
SLA2	0	LGGM	GRCh37	20	35262939	35262939	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	5	.	.	ENST00000262866.4:c.145G>A	p.Ala49Thr	p.A49T	ENST00000262866	NM_175077.2	49	Gcc/Acc	0	1	1	UPI000004B142	0	getma.org/pdb.php?prot=SLAP2_HUMAN&from=38&to=84&var=A49T	ENST00000262866		ENSG00000101082	17329		15	0.205		HGNC	p.A49T		SLA2		SNV							ENST00000360672	protein_coding	getma.org/?cm=var&var=hg19,20,35262939,C,T&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF00018,PROSITE_profiles:PS50002,hmmpanther:PTHR22820,hmmpanther:PTHR22820:SF14,SMART_domains:SM00326,Superfamily_domains:SSF50044		A/T		T	neutral	568/2757		getma.org/?cm=msa&ty=f&p=SLAP2_HUMAN&rb=38&re=84&var=A49T	tolerated(1)				YES	SLA2,missense_variant,p.Ala49Thr,ENST00000262866,NM_175077.2,NM_032214.3;SLA2,missense_variant,p.Ala49Thr,ENST00000360672,;							MODERATE	145/786	A49T	SLAP2_HUMAN			Transcript		benign(0.012)	.	ENSP00000262866		CCDS13282.1			1	
KCNA4	0	LGGM	GRCh37	11	30032477	30032477	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000328224.6:c.1749A>G	p.Ala583=	p.A583=	ENST00000328224	NM_002233.3	583	gcA/gcG	0	1	1	UPI00001649FF	0		ENST00000328224		ENSG00000182255	6222		34			HGNC	p.A583A		KCNA4		SNV							ENST00000328224	protein_coding			hmmpanther:PTHR11537:SF45,hmmpanther:PTHR11537		A		C		2983/4172							YES	KCNA4,synonymous_variant,p.=,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;							LOW	1749/1962		KCNA4_HUMAN			Transcript			.	ENSP00000328511		CCDS41629.1			1	
PPARA	0	LGGM	GRCh37	22	46611121	46611121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	5	.	.	ENST00000396000.2:c.260C>T	p.Pro87Leu	p.P87L	ENST00000396000		87	cCc/cTc	0	1		UPI000000D8E0	0	NA	ENST00000262735		ENSG00000186951	9232		18	2.135		HGNC	p.P87L		PPARA		SNV			1				ENST00000402126	protein_coding	getma.org/?cm=var&var=hg19,22,46611121,C,T&fts=all		Low_complexity_(Seg):seg,Prints_domain:PR01289,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF197		P/L		T	medium	442/9965		getma.org/?cm=msa&ty=f&p=PPARA_HUMAN&rb=1&re=99&var=P87L	tolerated(0.84)	F1D8S4_HUMAN,B0QYX2_HUMAN				PPARA,missense_variant,p.Pro87Leu,ENST00000396000,;PPARA,missense_variant,p.Pro87Leu,ENST00000407236,;PPARA,missense_variant,p.Pro87Leu,ENST00000262735,NM_005036.4,NM_001001928.2;PPARA,missense_variant,p.Pro87Leu,ENST00000402126,;PPARA,missense_variant,p.Pro87Leu,ENST00000434345,;PPARA,missense_variant,p.Pro87Leu,ENST00000420804,;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,;							MODERATE	260/1407	P87L	PPARA_HUMAN			Transcript		benign(0.003)	.	ENSP00000262735		CCDS33669.1			1	
RELN	0	LGGM	GRCh37	7	103175772	103175772	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	5	.	.	ENST00000428762.1:c.7340C>T	p.Pro2447Leu	p.P2447L	ENST00000428762	NM_005045.3	2447	cCt/cTt	0	1	1	UPI00001678BC	0	getma.org/pdb.php?prot=RELN_HUMAN&from=2372&to=2571&var=P2447L	ENST00000428762		ENSG00000189056	9957		19	0.485		HGNC	p.P2447L		RELN		SNV			1				ENST00000343529	protein_coding	getma.org/?cm=var&var=hg19,7,103175772,G,A&fts=all		hmmpanther:PTHR11841		P/L		A	neutral	7500/11571		getma.org/?cm=msa&ty=f&p=RELN_HUMAN&rb=2372&re=2571&var=P2447L	tolerated(0.31)	Q75MM8_HUMAN			YES	RELN,missense_variant,p.Pro2447Leu,ENST00000424685,;RELN,missense_variant,p.Pro2447Leu,ENST00000428762,NM_005045.3;RELN,missense_variant,p.Pro2447Leu,ENST00000343529,NM_173054.2;RELN,non_coding_transcript_exon_variant,,ENST00000478148,;							MODERATE	7340/10383	P2447L	RELN_HUMAN			Transcript		benign(0.027)	.	ENSP00000392423		CCDS47680.1			1	
CHRNA4	0	LGGM	GRCh37	20	61981083	61981083	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	5	.	.	ENST00000370263.4:c.1680G>A	p.Leu560=	p.L560=	ENST00000370263	NM_000744.6	560	ctG/ctA	0	1	1	UPI000012523B	0		ENST00000370263		ENSG00000101204	1958		21			HGNC	p.L560L		CHRNA4		SNV			1				ENST00000370263	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR18945:SF401,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112		L		T		1902/4776				Q5EIV0_HUMAN,Q5EIU9_HUMAN,Q4VAQ3_HUMAN			YES	CHRNA4,synonymous_variant,p.=,ENST00000370263,NM_000744.6,NM_001256573.1;CHRNA4,non_coding_transcript_exon_variant,,ENST00000463705,;CHRNA4,non_coding_transcript_exon_variant,,ENST00000467563,;CHRNA4,3_prime_UTR_variant,,ENST00000498043,;							LOW	1680/1884		ACHA4_HUMAN			Transcript			.	ENSP00000359285		CCDS13517.1			1	
KIAA1244	0	LGGM	GRCh37	6	138584018	138584018	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000251691.4:c.1398G>A	p.Glu466=	p.E466=	ENST00000251691	NM_020340.4	466	gaG/gaA	0	1	1	UPI000150AF4A	0		ENST00000251691		ENSG00000112379	21213		34			HGNC	p.E466E		KIAA1244		SNV							ENST00000251691	protein_coding			hmmpanther:PTHR10663:SF13,hmmpanther:PTHR10663		E		A		1564/14877				C5NM88_HUMAN,B5MDV5_HUMAN			YES	KIAA1244,synonymous_variant,p.=,ENST00000251691,NM_020340.4;							LOW	1398/6534		BIG3_HUMAN			Transcript			.	ENSP00000251691		CCDS5189.2			1	
PADI3	0	LGGM	GRCh37	1	17601241	17601241	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	5	.	.	ENST00000375460.3:c.1267T>C	p.Tyr423His	p.Y423H	ENST00000375460	NM_016233.2	423	Tac/Cac	0	1	1	UPI000013D8A0	0	getma.org/pdb.php?prot=PADI3_HUMAN&from=278&to=664&var=Y423H	ENST00000375460		ENSG00000142619	18337		17	3.06		HGNC	p.Y423H		PADI3		SNV							ENST00000375460	protein_coding	getma.org/?cm=var&var=hg19,1,17601241,T,C&fts=all		Pfam_domain:PF03068,PIRSF_domain:PIRSF001247,hmmpanther:PTHR10837,hmmpanther:PTHR10837:SF2,Superfamily_domains:SSF55909		Y/H		C	medium	1307/3189		getma.org/?cm=msa&ty=f&p=PADI3_HUMAN&rb=278&re=664&var=Y423H	deleterious(0)				YES	PADI3,missense_variant,p.Tyr423His,ENST00000375460,NM_016233.2;MIR3972,upstream_gene_variant,,ENST00000582732,;							MODERATE	1267/1995	Y423H	PADI3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000364609		CCDS179.1			1	
MEGF8	0	LGGM	GRCh37	19	42880319	42880319	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	5	.	.	ENST00000334370.4:c.7729G>A	p.Ala2577Thr	p.A2577T	ENST00000334370	NM_001410.2	2577	Gcc/Acc	0	1		UPI00005788D1	0	NA	ENST00000251268		ENSG00000105429	3233		24	0.345		HGNC	p.A2577T		MEGF8		SNV			1				ENST00000334370	protein_coding	getma.org/?cm=var&var=hg19,19,42880319,G,A&fts=all				A/T		A	neutral	7930/9549		getma.org/?cm=msa&ty=f&p=MEGF8_HUMAN&rb=2579&re=2778&var=A2644T	tolerated(0.15)					MEGF8,missense_variant,p.Ala2577Thr,ENST00000334370,NM_001410.2,NM_001271938.1;MEGF8,missense_variant,p.Ala2644Thr,ENST00000251268,;MEGF8,missense_variant,p.Ala238Thr,ENST00000378073,;MEGF8,3_prime_UTR_variant,,ENST00000593647,;MEGF8,intron_variant,,ENST00000598762,;MEGF8,downstream_gene_variant,,ENST00000599787,;							MODERATE	7930/8538	A2644T	MEGF8_HUMAN			Transcript		benign(0.029)	.	ENSP00000251268		CCDS62693.1			1	
PLCB2	0	LGGM	GRCh37	15	40587248	40587248	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	5	.	.	ENST00000260402.3:c.1795C>A	p.Gln599Lys	p.Q599K	ENST00000260402	NM_004573.2	599	Cag/Aag	0	1	1	UPI0000D79B75	0	getma.org/pdb.php?prot=PLCB2_HUMAN&from=545&to=662&var=Q599K	ENST00000260402		ENSG00000137841	9055		47	2.51		HGNC	p.Q599K		PLCB2		SNV							ENST00000558588	protein_coding	getma.org/?cm=var&var=hg19,15,40587248,G,T&fts=all		PROSITE_profiles:PS50008,hmmpanther:PTHR10336:SF10,hmmpanther:PTHR10336,Gene3D:3.20.20.190,Pfam_domain:PF00387,SMART_domains:SM00149,PIRSF_domain:PIRSF000956,Superfamily_domains:SSF51695		Q/K		T	medium	2045/4616		getma.org/?cm=msa&ty=f&p=PLCB2_HUMAN&rb=545&re=662&var=Q599K	deleterious(0)	H0YNI4_HUMAN			YES	PLCB2,missense_variant,p.Gln599Lys,ENST00000260402,NM_004573.2;PLCB2,missense_variant,p.Gln595Lys,ENST00000557821,NM_001284297.1;PLCB2,missense_variant,p.Gln599Lys,ENST00000456256,NM_001284298.1;PLCB2,upstream_gene_variant,,ENST00000559671,;PLCB2,missense_variant,p.Gln599Lys,ENST00000558588,;PLCB2,upstream_gene_variant,,ENST00000559381,;PLCB2,upstream_gene_variant,,ENST00000560701,;PLCB2,downstream_gene_variant,,ENST00000560093,;PLCB2,upstream_gene_variant,,ENST00000561378,;PLCB2,upstream_gene_variant,,ENST00000558505,;PLCB2,downstream_gene_variant,,ENST00000558409,;							MODERATE	1795/3558	Q599K	PLCB2_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000260402		CCDS42020.1			1	
TIAM2	0	LGGM	GRCh37	6	155578068	155578068	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	5	.	.	ENST00000461783.3:c.4919A>T	p.Asn1640Ile	p.N1640I	ENST00000461783		1640	aAc/aTc	0	1		UPI00004DF8BE	0	NA	ENST00000318981		ENSG00000146426	11806		38	1.905		HGNC	p.N1640I		TIAM2		SNV							ENST00000318981	protein_coding	getma.org/?cm=var&var=hg19,6,155578068,A,T&fts=all				N/I		T	medium	5127/5916		getma.org/?cm=msa&ty=f&p=TIAM2_HUMAN&rb=1493&re=1692&var=N1640I	deleterious_low_confidence(0)	F5H8H5_HUMAN,F5H6W6_HUMAN,F5H6R0_HUMAN,F5H1M3_HUMAN,E9PMZ8_HUMAN				TIAM2,missense_variant,p.Asn1640Ile,ENST00000461783,;TIAM2,missense_variant,p.Asn1669Ile,ENST00000456144,;TIAM2,missense_variant,p.Asn1016Ile,ENST00000367174,;TIAM2,missense_variant,p.Asn1640Ile,ENST00000318981,NM_012454.3;TIAM2,missense_variant,p.Asn1664Ile,ENST00000360366,;TIAM2,missense_variant,p.Asn1669Ile,ENST00000529824,;TIAM2,missense_variant,p.Asn984Ile,ENST00000528391,;TIAM2,missense_variant,p.Asn952Ile,ENST00000456877,;TIAM2,missense_variant,p.Asn565Ile,ENST00000275246,NM_001010927.2;TIAM2,downstream_gene_variant,,ENST00000528535,;TFB1M,downstream_gene_variant,,ENST00000367166,NM_016020.3;RP11-477D19.2,upstream_gene_variant,,ENST00000435295,;TFB1M,downstream_gene_variant,,ENST00000468889,;TFB1M,downstream_gene_variant,,ENST00000489874,;TFB1M,downstream_gene_variant,,ENST00000495806,;TFB1M,downstream_gene_variant,,ENST00000470239,;TIAM2,downstream_gene_variant,,ENST00000537845,;							MODERATE	4919/5106	N1640I	TIAM2_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000327315		CCDS34558.1			1	
ZNF559	0	LGGM	GRCh37	19	9452878	9452878	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	5	.	.	ENST00000393883.2:c.751A>T	p.Thr251Ser	p.T251S	ENST00000393883	NM_001202412.1	251	Act/Tct	0	1	1	UPI00000733B2	0	getma.org/pdb.php?prot=ZN559_HUMAN&from=241&to=263&var=T251S	ENST00000393883		ENSG00000188321	28197		47	-0.575		HGNC	p.T251S		ZNF559		SNV							ENST00000587557	protein_coding	getma.org/?cm=var&var=hg19,19,9452878,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF77,hmmpanther:PTHR24381,PROSITE_patterns:PS00028,Pfam_domain:PF00096,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		T/S		T	neutral	1399/3042		getma.org/?cm=msa&ty=f&p=ZN559_HUMAN&rb=221&re=283&var=T251S	tolerated(0.77)	S4R3F2_HUMAN,K7ERK9_HUMAN,B4DP29_HUMAN			YES	ZNF559,missense_variant,p.Thr251Ser,ENST00000393883,NM_001202412.1;ZNF559,missense_variant,p.Thr315Ser,ENST00000587557,NM_001202411.1,NM_001202409.1,NM_001202408.1,NM_001202406.1;ZNF559,missense_variant,p.Thr251Ser,ENST00000603380,;ZNF559,missense_variant,p.Thr237Ser,ENST00000605750,;ZNF559,missense_variant,p.Thr171Ser,ENST00000538743,;ZNF559,3_prime_UTR_variant,,ENST00000317221,NM_001202410.1,NM_032497.2;ZNF559,3_prime_UTR_variant,,ENST00000592896,;ZNF559-ZNF177,intron_variant,,ENST00000446085,;ZNF559-ZNF177,intron_variant,,ENST00000541595,NM_001172650.2;ZNF177,intron_variant,,ENST00000602738,;ZNF177,intron_variant,,ENST00000602856,NM_001202425.1;ZNF559,intron_variant,,ENST00000586255,;ZNF559-ZNF177,intron_variant,,ENST00000603656,;ZNF559,intron_variant,,ENST00000591652,;ZNF559,downstream_gene_variant,,ENST00000592504,;ZNF559,downstream_gene_variant,,ENST00000585352,;ZNF559,downstream_gene_variant,,ENST00000588124,;ZNF559,downstream_gene_variant,,ENST00000592298,;ZNF559,downstream_gene_variant,,ENST00000585377,;ZNF559,downstream_gene_variant,,ENST00000589208,;CTC-325H20.2,upstream_gene_variant,,ENST00000592371,;ZNF559-ZNF177,intron_variant,,ENST00000605471,;ZNF559-ZNF177,intron_variant,,ENST00000603099,;ZNF559-ZNF177,intron_variant,,ENST00000605301,;ZNF559-ZNF177,intron_variant,,ENST00000605522,;ZNF559-ZNF177,intron_variant,,ENST00000603974,;ZNF559-ZNF177,intron_variant,,ENST00000605071,;ZNF559-ZNF177,intron_variant,,ENST00000603024,;ZNF559-ZNF177,intron_variant,,ENST00000605775,;ZNF559-ZNF177,intron_variant,,ENST00000605006,;ZNF559-ZNF177,intron_variant,,ENST00000605093,;ZNF559-ZNF177,intron_variant,,ENST00000604886,;ZNF559-ZNF177,intron_variant,,ENST00000593242,;ZNF559-ZNF177,intron_variant,,ENST00000604543,;							MODERATE	751/1617	T251S	ZN559_HUMAN			Transcript		benign(0.053)	.	ENSP00000377461		CCDS12211.1			1	
GPR179	0	LGGM	GRCh37	17	36499087	36499087	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	5	.	.	ENST00000342292.4:c.586G>A	p.Ala196Thr	p.A196T	ENST00000342292	NM_001004334.2	196	Gcc/Acc	0	1	1	UPI000041A9C2	0	NA	ENST00000342292		ENSG00000188888	31371		41	1.1		HGNC	p.A196T		GPR179		SNV			1				ENST00000342292	protein_coding	getma.org/?cm=var&var=hg19,17,36499087,C,T&fts=all		hmmpanther:PTHR32546,hmmpanther:PTHR32546:SF7		A/T		T	low	607/7980		getma.org/?cm=msa&ty=f&p=GP179_HUMAN&rb=1&re=200&var=A196T	tolerated(0.47)				YES	GPR179,missense_variant,p.Ala196Thr,ENST00000342292,NM_001004334.2;GPR179,non_coding_transcript_exon_variant,,ENST00000494542,;							MODERATE	586/7104	A196T	GP179_HUMAN			Transcript		benign(0.003)	.	ENSP00000345060		CCDS42308.1			1	
FLOT2	0	LGGM	GRCh37	17	27211291	27211291	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	5	.	.	ENST00000394908.4:c.174C>T	p.Asp58=	p.D58=	ENST00000394908	NM_004475.2	58	gaC/gaT	0	1	1	UPI00001AE777	0		ENST00000394908		ENSG00000132589	3758		23			HGNC	p.R89C	rs747505161	FLOT2		SNV							ENST00000580805	protein_coding			Superfamily_domains:0050593,Pfam_domain:PF01145,hmmpanther:PTHR13806,hmmpanther:PTHR13806:SF17		D		A		279/2618	1.52E-05			Q6FG43_HUMAN			YES	FLOT2,synonymous_variant,p.=,ENST00000394906,;FLOT2,synonymous_variant,p.=,ENST00000394908,NM_004475.2;FLOT2,intron_variant,,ENST00000585169,;FLOT2,intron_variant,,ENST00000465427,;FLOT2,intron_variant,,ENST00000577789,;FLOT2,upstream_gene_variant,,ENST00000584569,;FLOT2,missense_variant,p.Arg89Cys,ENST00000580805,;FLOT2,non_coding_transcript_exon_variant,,ENST00000580313,;FLOT2,non_coding_transcript_exon_variant,,ENST00000581509,;FLOT2,intron_variant,,ENST00000586827,;FLOT2,intron_variant,,ENST00000593158,;FLOT2,intron_variant,,ENST00000582174,;	0.000581						LOW	174/1287		FLOT2_HUMAN			Transcript			common_variant	ENSP00000378368	4.96E-05	CCDS11245.2			1	
LGALS9	0	LGGM	GRCh37	17	25970632	25970632	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	5	.	.	ENST00000395473.2:c.526G>A	p.Gly176Arg	p.G176R	ENST00000395473	NM_009587.2	176	Ggg/Agg	0	1	1	UPI000012E437	0	NA	ENST00000395473		ENSG00000168961	6570		25	0.805		HGNC	p.G23R		LGALS9		SNV							ENST00000578944	protein_coding	getma.org/?cm=var&var=hg19,17,25970632,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11346:SF91,hmmpanther:PTHR11346		G/R		A	low	1994/3114		getma.org/?cm=msa&ty=f&p=LEG9_HUMAN&rb=148&re=225&var=G176R	tolerated(0.12)	K7EPS0_HUMAN			YES	LGALS9,missense_variant,p.Gly176Arg,ENST00000395473,NM_009587.2;LGALS9,missense_variant,p.Gly119Arg,ENST00000413914,;LGALS9,missense_variant,p.Gly86Arg,ENST00000584661,;LGALS9,missense_variant,p.Gly23Arg,ENST00000578944,;LGALS9,intron_variant,,ENST00000302228,NM_002308.3;LGALS9,intron_variant,,ENST00000310394,;LGALS9,intron_variant,,ENST00000313648,;LGALS9,intron_variant,,ENST00000581710,;LGALS9,intron_variant,,ENST00000577392,;LGALS9,downstream_gene_variant,,ENST00000448970,;LGALS9,3_prime_UTR_variant,,ENST00000580779,;LGALS9,intron_variant,,ENST00000467111,;LGALS9,intron_variant,,ENST00000584386,;LGALS9,upstream_gene_variant,,ENST00000486774,;LGALS9,upstream_gene_variant,,ENST00000481514,;AC015688.3,downstream_gene_variant,,ENST00000584605,;LGALS9,downstream_gene_variant,,ENST00000579930,;LGALS9,downstream_gene_variant,,ENST00000579402,;LGALS9,downstream_gene_variant,,ENST00000583671,;AC015688.3,downstream_gene_variant,,ENST00000579290,;							MODERATE	526/1068	G176R	LEG9_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000378856		CCDS11222.1			1	
PPFIBP2	0	LGGM	GRCh37	11	7662791	7662791	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	5	.	.	ENST00000299492.4:c.1457A>G	p.Gln486Arg	p.Q486R	ENST00000299492	NM_003621.3	486	cAg/cGg	0	1	1	UPI00001C1EF8	0	NA	ENST00000299492		ENSG00000166387	9250		68	2.005		HGNC	p.Q147R	rs760588870	PPFIBP2	6.06E-05	SNV							ENST00000530081	protein_coding	getma.org/?cm=var&var=hg19,11,7662791,A,G&fts=all		hmmpanther:PTHR12587:SF18,hmmpanther:PTHR12587		Q/R		G	medium	1845/3557		getma.org/?cm=msa&ty=f&p=LIPB2_HUMAN&rb=311&re=510&var=Q486R	tolerated(0.23)	E9PP16_HUMAN,E9PMN3_HUMAN,E9PMH3_HUMAN,E9PK17_HUMAN,E9PJA0_HUMAN,E9PIK8_HUMAN,B3KM46_HUMAN			YES	PPFIBP2,missense_variant,p.Gln486Arg,ENST00000299492,NM_003621.3;PPFIBP2,missense_variant,p.Gln328Arg,ENST00000533792,;PPFIBP2,missense_variant,p.Gln343Arg,ENST00000530181,NM_001256569.1;PPFIBP2,missense_variant,p.Gln374Arg,ENST00000528883,NM_001256568.1;PPFIBP2,missense_variant,p.Gln177Arg,ENST00000534409,;PPFIBP2,missense_variant,p.Gln147Arg,ENST00000530081,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000530582,;PPFIBP2,intron_variant,,ENST00000532926,;PPFIBP2,intron_variant,,ENST00000529021,;PPFIBP2,upstream_gene_variant,,ENST00000524495,;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000532172,;PPFIBP2,downstream_gene_variant,,ENST00000532381,;							MODERATE	1457/2631	Q486R	LIPB2_HUMAN			Transcript		benign(0.14)	.	ENSP00000299492	8.24E-06	CCDS31419.1			1	
GPR98	0	LGGM	GRCh37	5	90070021	90070021	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	111	5	.	.	ENST00000405460.2:c.12304A>G	p.Ile4102Val	p.I4102V	ENST00000405460	NM_032119.3	4102	Att/Gtt	0	1	1	UPI00002127A7	0	getma.org/pdb.php?prot=GPR98_HUMAN&from=4020&to=4123&var=I4102V	ENST00000405460		ENSG00000164199	17416		116	1.54		HGNC	p.I4102V	rs530625257	GPR98		SNV			1				ENST00000405460	protein_coding	getma.org/?cm=var&var=hg19,5,90070021,A,G&fts=all	T:0	Pfam_domain:PF03160,hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20,SMART_domains:SM00237,Superfamily_domains:SSF141072		I/V		G	low	12400/19338	3.02E-05	getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=4020&re=4123&var=I4102V			T:0	T:0	YES	GPR98,missense_variant,p.Ile4102Val,ENST00000405460,NM_032119.3;		T:0.0002					MODERATE	12304/18921	I4102V	GPR98_HUMAN		T:0.001	Transcript		benign(0.394)	.	ENSP00000384582	1.65E-05	CCDS47246.1		T:0	1	
NUP93	0	LGGM	GRCh37	16	56792563	56792563	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	5	.	.	ENST00000308159.5:c.293T>C	p.Ile98Thr	p.I98T	ENST00000308159	NM_014669.4	98	aTt/aCt	0	1	1	UPI0000044E0C	0	NA	ENST00000308159		ENSG00000102900	28958		33	2.305		HGNC	p.I98T		NUP93		SNV							ENST00000569842	protein_coding	getma.org/?cm=var&var=hg19,16,56792563,T,C&fts=all		hmmpanther:PTHR11225		I/T		C	medium	414/2741		getma.org/?cm=msa&ty=f&p=NUP93_HUMAN&rb=1&re=200&var=I98T	deleterious(0)	H3BV11_HUMAN,H3BRI8_HUMAN,H3BP95_HUMAN,H3BNG7_HUMAN,H3BMX0_HUMAN,H3BM93_HUMAN			YES	NUP93,missense_variant,p.Ile98Thr,ENST00000569842,;NUP93,missense_variant,p.Ile98Thr,ENST00000308159,NM_014669.4;NUP93,missense_variant,p.Ile98Thr,ENST00000568656,;NUP93,missense_variant,p.Ile98Thr,ENST00000566315,;NUP93,missense_variant,p.Ile98Thr,ENST00000562496,;NUP93,missense_variant,p.Ile65Thr,ENST00000566678,;NUP93,5_prime_UTR_variant,,ENST00000569863,;NUP93,intron_variant,,ENST00000563858,;							MODERATE	293/2460	I98T	NUP93_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000310668		CCDS10769.1			1	
FANCA	0	LGGM	GRCh37	16	89806488	89806488	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	5	.	.	ENST00000389301.3:c.3848A>C	p.Lys1283Thr	p.K1283T	ENST00000389301	NM_000135.2	1283	aAg/aCg	0	1	1	UPI0000520A1A	0	NA	ENST00000389301		ENSG00000187741	3582		79	1.67		HGNC	p.K1283T		FANCA		SNV			1				ENST00000568369	protein_coding	getma.org/?cm=var&var=hg19,16,89806488,T,G&fts=all		Pfam_domain:PF03511,hmmpanther:PTHR12047		K/T		G	low	3879/5451		getma.org/?cm=msa&ty=f&p=FANCA_HUMAN&rb=1253&re=1316&var=K1283T	tolerated(0.36)	H3BT53_HUMAN			YES	FANCA,missense_variant,p.Lys1283Thr,ENST00000389301,NM_000135.2;FANCA,missense_variant,p.Lys1283Thr,ENST00000568369,NM_001286167.1;FANCA,missense_variant,p.Lys60Thr,ENST00000564475,;FANCA,missense_variant,p.Lys109Thr,ENST00000567879,;FANCA,missense_variant,p.Lys17Thr,ENST00000564870,;ZNF276,3_prime_UTR_variant,,ENST00000289816,NM_152287.3;ZNF276,downstream_gene_variant,,ENST00000443381,NM_001113525.1;ZNF276,downstream_gene_variant,,ENST00000568064,;ZNF276,downstream_gene_variant,,ENST00000446326,;FANCA,upstream_gene_variant,,ENST00000561722,;FANCA,3_prime_UTR_variant,,ENST00000568626,;FANCA,non_coding_transcript_exon_variant,,ENST00000305699,;FANCA,non_coding_transcript_exon_variant,,ENST00000564969,;ZNF276,downstream_gene_variant,,ENST00000563983,;ZNF276,downstream_gene_variant,,ENST00000564004,;ZNF276,downstream_gene_variant,,ENST00000568295,;ZNF276,downstream_gene_variant,,ENST00000561536,;ZNF276,downstream_gene_variant,,ENST00000562530,;FANCA,downstream_gene_variant,,ENST00000567988,;FANCA,downstream_gene_variant,,ENST00000561660,;FANCA,upstream_gene_variant,,ENST00000562424,;FANCA,downstream_gene_variant,,ENST00000568983,;ZNF276,downstream_gene_variant,,ENST00000569901,;ZNF276,downstream_gene_variant,,ENST00000569582,;							MODERATE	3848/4368	K1283T	FANCA_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000373952		CCDS32515.1			1	
FLNB	0	LGGM	GRCh37	3	58084483	58084483	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	5	.	.	ENST00000490882.1:c.1193G>A	p.Gly398Glu	p.G398E	ENST00000490882	NM_001164317.1	398	gGg/gAg	0	1		UPI00001AEC01	0	getma.org/pdb.php?prot=FLNB_HUMAN&from=351&to=443&var=G398E	ENST00000295956		ENSG00000136068	3755		37	3.495		HGNC	p.G229E		FLNB		SNV			1				ENST00000493452	protein_coding	getma.org/?cm=var&var=hg19,3,58084483,G,A&fts=all		PROSITE_profiles:PS50194,hmmpanther:PTHR11915:SF238,hmmpanther:PTHR11915,Gene3D:2.60.40.10,Pfam_domain:PF00630,SMART_domains:SM00557,Superfamily_domains:SSF81296		G/E		A	medium	1358/9463		getma.org/?cm=msa&ty=f&p=FLNB_HUMAN&rb=351&re=443&var=G398E	deleterious(0)					FLNB,missense_variant,p.Gly398Glu,ENST00000357272,;FLNB,missense_variant,p.Gly398Glu,ENST00000295956,NM_001457.3;FLNB,missense_variant,p.Gly398Glu,ENST00000429972,NM_001164318.1;FLNB,missense_variant,p.Gly398Glu,ENST00000358537,NM_001164319.1;FLNB,missense_variant,p.Gly398Glu,ENST00000348383,;FLNB,missense_variant,p.Gly229Glu,ENST00000419752,;FLNB,missense_variant,p.Gly398Glu,ENST00000490882,NM_001164317.1;FLNB,missense_variant,p.Gly229Glu,ENST00000493452,;							MODERATE	1193/7809	G398E	FLNB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295956		CCDS2885.1			1	
HERC1	0	LGGM	GRCh37	15	63918232	63918232	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000443617.2:c.13227C>T	p.Asp4409=	p.D4409=	ENST00000443617	NM_003922.3	4409	gaC/gaT	0	1	1	UPI0000212760	0		ENST00000443617		ENSG00000103657	4867		26			HGNC	p.D4409D		HERC1		SNV							ENST00000443617	protein_coding			hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870		D		A		13315/15137				H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,synonymous_variant,p.=,ENST00000443617,NM_003922.3;HERC1,synonymous_variant,p.=,ENST00000558324,;HERC1,non_coding_transcript_exon_variant,,ENST00000561348,;HERC1,downstream_gene_variant,,ENST00000561359,;HERC1,downstream_gene_variant,,ENST00000561436,;							LOW	13227/14586		HERC1_HUMAN			Transcript			.	ENSP00000390158		CCDS45277.1			1	
CST7	0	LGGM	GRCh37	20	24940277	24940277	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	5	.	.	ENST00000480798.1:c.367A>C	p.Ser123Arg	p.S123R	ENST00000480798	NM_003650.3	123	Agc/Cgc	0	1	1	UPI0000001CA0	0	getma.org/pdb.php?prot=CYTF_HUMAN&from=37&to=133&var=S123R	ENST00000480798		ENSG00000077984	2479		45	0.69		HGNC	p.S145R		CST7		SNV							ENST00000376835	protein_coding	getma.org/?cm=var&var=hg19,20,24940277,A,C&fts=all		hmmpanther:PTHR11413,hmmpanther:PTHR11413:SF8,Gene3D:3.10.450.10,Pfam_domain:PF00031,SMART_domains:SM00043,Superfamily_domains:SSF54403		S/R		C	neutral	643/930		getma.org/?cm=msa&ty=f&p=CYTF_HUMAN&rb=37&re=133&var=S123R	tolerated(0.63)				YES	CST7,missense_variant,p.Ser123Arg,ENST00000480798,NM_003650.3;CST7,missense_variant,p.Ser145Arg,ENST00000376835,;APMAP,downstream_gene_variant,,ENST00000217456,NM_020531.2;APMAP,downstream_gene_variant,,ENST00000451442,;APMAP,downstream_gene_variant,,ENST00000447138,;							MODERATE	367/438	S123R	CYTF_HUMAN			Transcript		benign(0.026)	.	ENSP00000420384		CCDS13165.2			1	
CEBPE	0	LGGM	GRCh37	14	23586736	23586736	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	5	.	.	ENST00000206513.5:c.806A>T	p.Glu269Val	p.E269V	ENST00000206513	NM_001805.3	269	gAg/gTg	0	1	1	UPI000013C660	0	getma.org/pdb.php?prot=CEBPE_HUMAN&from=257&to=281&var=E269V	ENST00000206513		ENSG00000092067	1836		18	1.385		HGNC	p.E269V		CEBPE		SNV			1				ENST00000206513	protein_coding	getma.org/?cm=var&var=hg19,14,23586736,T,A&fts=all		PIRSF_domain:PIRSF005879,hmmpanther:PTHR23334,hmmpanther:PTHR23334:SF17		E/V		A	low	1331/1554		getma.org/?cm=msa&ty=f&p=CEBPE_HUMAN&rb=227&re=281&var=E269V	deleterious(0)				YES	CEBPE,missense_variant,p.Glu269Val,ENST00000206513,NM_001805.3;							MODERATE	806/846	E269V	CEBPE_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000206513		CCDS9589.1			1	
SHC3	0	LGGM	GRCh37	9	91686127	91686127	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	5	.	.	ENST00000375835.4:c.770C>T	p.Ser257Phe	p.S257F	ENST00000375835	NM_016848.5	257	tCt/tTt	0	1	1	UPI0000073E1F	0	getma.org/pdb.php?prot=SHC3_HUMAN&from=155&to=311&var=S257F	ENST00000375835		ENSG00000148082	18181		23	3.07		HGNC	p.S257F		SHC3		SNV							ENST00000375835	protein_coding	getma.org/?cm=var&var=hg19,9,91686127,G,A&fts=all		PROSITE_profiles:PS01179,hmmpanther:PTHR10337:SF4,hmmpanther:PTHR10337,Pfam_domain:PF00640,Gene3D:2.30.29.30,SMART_domains:SM00462,Superfamily_domains:SSF50729,Prints_domain:PR00629		S/F		A	medium	1077/2394		getma.org/?cm=msa&ty=f&p=SHC3_HUMAN&rb=155&re=311&var=S257F	deleterious(0)				YES	SHC3,missense_variant,p.Ser257Phe,ENST00000375835,NM_016848.5;SHC3,5_prime_UTR_variant,,ENST00000375830,;							MODERATE	770/1785	S257F	SHC3_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000364995		CCDS6681.1			1	
FIBP	0	LGGM	GRCh37	11	65652046	65652046	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	5	.	.	ENST00000338369.2:c.922G>A	p.Glu308Lys	p.E308K	ENST00000338369	NM_198897.1	308	Gag/Aag	0	1	1	UPI000012A79E	0	NA	ENST00000338369		ENSG00000172500	3705		39	2.67		HGNC	p.E301K		FIBP		SNV							ENST00000357519	protein_coding	getma.org/?cm=var&var=hg19,11,65652046,C,T&fts=all		Pfam_domain:PF05427,hmmpanther:PTHR13223,hmmpanther:PTHR13223:SF2		E/K		T	medium	1035/1261		getma.org/?cm=msa&ty=f&p=FIBP_HUMAN&rb=2&re=364&var=E308K	tolerated(0.09)	B4DKH9_HUMAN			YES	FIBP,missense_variant,p.Glu308Lys,ENST00000338369,NM_198897.1;FIBP,missense_variant,p.Glu301Lys,ENST00000357519,NM_004214.4;FIBP,intron_variant,,ENST00000533045,;CTSW,downstream_gene_variant,,ENST00000528419,;CTSW,downstream_gene_variant,,ENST00000307886,NM_001335.3;CTSW,downstream_gene_variant,,ENST00000526034,;FIBP,downstream_gene_variant,,ENST00000426652,;FIBP,missense_variant,p.Glu103Lys,ENST00000531115,;FIBP,3_prime_UTR_variant,,ENST00000533037,;FIBP,non_coding_transcript_exon_variant,,ENST00000534032,;FIBP,non_coding_transcript_exon_variant,,ENST00000525765,;FIBP,downstream_gene_variant,,ENST00000528937,;FIBP,downstream_gene_variant,,ENST00000532679,;FIBP,downstream_gene_variant,,ENST00000442885,;FIBP,downstream_gene_variant,,ENST00000532229,;CTSW,downstream_gene_variant,,ENST00000524681,;FIBP,downstream_gene_variant,,ENST00000532934,;							MODERATE	922/1095	E308K	FIBP_HUMAN			Transcript		benign(0.071)	.	ENSP00000344572		CCDS8119.1			1	
NUAK1	0	LGGM	GRCh37	12	106460826	106460826	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	5	.	.	ENST00000261402.2:c.1740C>T	p.Ser580=	p.S580=	ENST00000261402	NM_014840.2	580	agC/agT	0	1	1	UPI00000403BC	0		ENST00000261402		ENSG00000074590	14311	8.67E-05	10			HGNC	p.S580S	rs540753037,COSM1358396,COSM1358395	NUAK1		SNV				0.000101		0,1,1	ENST00000261402	protein_coding		A:0.0008	hmmpanther:PTHR24343,hmmpanther:PTHR24343:SF79,Low_complexity_(Seg):seg		S		A		3120/6828	7.51E-05			F8VZ96_HUMAN,F8VXF0_HUMAN,F8VSH4_HUMAN	A:0.0014	A:0	YES	NUAK1,synonymous_variant,p.=,ENST00000261402,NM_014840.2;NUAK1,downstream_gene_variant,,ENST00000549704,;NUAK1,downstream_gene_variant,,ENST00000548902,;NUAK1,downstream_gene_variant,,ENST00000553094,;		A:0.0004			0,1,1		LOW	1740/1986		NUAK1_HUMAN		A:0	Transcript			.	ENSP00000261402	5.77E-05	CCDS31892.1		A:0	1	
OR2T34	0	LGGM	GRCh37	1	248737965	248737965	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	5	.	.	ENST00000328782.2:c.94C>T	p.Leu32Phe	p.L32F	ENST00000328782	NM_001001821.1	32	Ctc/Ttc	0	1	1	UPI0000061ED4	0	getma.org/pdb.php?prot=O2T34_HUMAN&from=1&to=143&var=L32F	ENST00000328782		ENSG00000183310	31256		36	2.04		HGNC	p.L32F		OR2T34		SNV							ENST00000328782	protein_coding	getma.org/?cm=var&var=hg19,1,248737965,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF4,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		L/F		A	medium	116/1059		getma.org/?cm=msa&ty=f&p=O2T34_HUMAN&rb=1&re=143&var=L32F	deleterious(0.04)				YES	OR2T34,missense_variant,p.Leu32Phe,ENST00000328782,NM_001001821.1;							MODERATE	94/957	L32F	O2T34_HUMAN			Transcript		benign(0.061)	.	ENSP00000330904		CCDS31120.1			1	
ZNF562	0	LGGM	GRCh37	19	9763640	9763640	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	5	.	.	ENST00000448622.1:c.1266C>T	p.His422=	p.H422=	ENST00000448622	NM_001130032.1	422	caC/caT	0	1		UPI000067CA26	0		ENST00000453372		ENSG00000171466	25950		35			HGNC	p.H422H		ZNF562		SNV							ENST00000448622	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF7,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355		H		A		1426/2111				K7ELE4_HUMAN,B4E2P7_HUMAN				ZNF562,synonymous_variant,p.=,ENST00000448622,NM_001130032.1,NM_001130031.1;ZNF562,synonymous_variant,p.=,ENST00000293648,NM_017656.3;ZNF562,synonymous_variant,p.=,ENST00000453372,;ZNF562,synonymous_variant,p.=,ENST00000541032,;ZNF562,synonymous_variant,p.=,ENST00000590155,;ZNF562,synonymous_variant,p.=,ENST00000537617,;ZNF562,synonymous_variant,p.=,ENST00000453792,;ZNF562,downstream_gene_variant,,ENST00000588653,;ZNF562,downstream_gene_variant,,ENST00000587392,;ZNF562,downstream_gene_variant,,ENST00000589542,;ZNF562,3_prime_UTR_variant,,ENST00000585688,;							LOW	1266/1281		ZN562_HUMAN			Transcript			.	ENSP00000410734		CCDS45956.1			1	
LITAF	0	LGGM	GRCh37	16	11650467	11650467	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	5	.	.	ENST00000571688.1:c.120G>A	p.Met40Ile	p.M40I	ENST00000571688	NM_001136472.1	40	atG/atA	0	1		UPI000007094D	0	NA	ENST00000339430		ENSG00000189067	16841		15	1.1		HGNC	p.M40I		LITAF		SNV			1				ENST00000574703	protein_coding	getma.org/?cm=var&var=hg19,16,11650467,C,T&fts=all		hmmpanther:PTHR23292,hmmpanther:PTHR23292:SF2,Low_complexity_(Seg):seg		M/I		T	low	353/2356		getma.org/?cm=msa&ty=f&p=LITAF_HUMAN&rb=1&re=86&var=M40I	tolerated(0.32)	I3L3U8_HUMAN,I3L329_HUMAN,I3L1R0_HUMAN,I3L1I9_HUMAN,I3L1H3_HUMAN				LITAF,missense_variant,p.Met40Ile,ENST00000571688,NM_001136472.1;LITAF,missense_variant,p.Met40Ile,ENST00000339430,NM_004862.3;LITAF,missense_variant,p.Met40Ile,ENST00000413364,NM_001136473.1;LITAF,missense_variant,p.Met40Ile,ENST00000381810,;LITAF,missense_variant,p.Met40Ile,ENST00000570904,;LITAF,missense_variant,p.Met40Ile,ENST00000574763,;LITAF,missense_variant,p.Met40Ile,ENST00000571459,;LITAF,missense_variant,p.Met40Ile,ENST00000576036,;LITAF,missense_variant,p.Met40Ile,ENST00000570798,;LITAF,missense_variant,p.Met40Ile,ENST00000571627,;LITAF,missense_variant,p.Met70Ile,ENST00000574848,;LITAF,missense_variant,p.Met40Ile,ENST00000574701,;LITAF,missense_variant,p.Met40Ile,ENST00000571976,;LITAF,missense_variant,p.Met40Ile,ENST00000574703,;LITAF,intron_variant,,ENST00000572255,;LITAF,downstream_gene_variant,,ENST00000571277,;LITAF,downstream_gene_variant,,ENST00000576334,;LITAF,missense_variant,p.Met40Ile,ENST00000573332,;LITAF,upstream_gene_variant,,ENST00000575426,;							MODERATE	120/486	M40I	LITAF_HUMAN			Transcript		benign(0)	.	ENSP00000340118		CCDS32386.1			1	
ERLIN2	0	LGGM	GRCh37	8	37607352	37607352	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	5	.	.	ENST00000276461.5:c.539G>A	p.Arg180His	p.R180H	ENST00000276461	NM_007175.6	180	cGc/cAc	0	1	1	UPI0000073DE1	0	NA	ENST00000276461		ENSG00000147475	1356		68	2.725		HGNC	p.R180H	rs372480451,COSM1099460	ERLIN2		SNV			1			0,1	ENST00000521644	protein_coding	getma.org/?cm=var&var=hg19,8,37607352,G,A&fts=all		hmmpanther:PTHR15351:SF4,hmmpanther:PTHR15351,Pfam_domain:PF01145,SMART_domains:SM00244		R/H		A	medium	606/6073		getma.org/?cm=msa&ty=f&p=ERLN2_HUMAN&rb=24&re=216&var=R180H	deleterious(0.04)	E5RHW4_HUMAN			YES	ERLIN2,missense_variant,p.Arg180His,ENST00000276461,NM_007175.6;ERLIN2,missense_variant,p.Arg180His,ENST00000519638,;ERLIN2,missense_variant,p.Arg180His,ENST00000521644,;ERLIN2,missense_variant,p.Arg137His,ENST00000518526,;ERLIN2,downstream_gene_variant,,ENST00000518586,;ERLIN2,downstream_gene_variant,,ENST00000523887,;ERLIN2,downstream_gene_variant,,ENST00000335171,NM_001003790.3;ERLIN2,downstream_gene_variant,,ENST00000397228,NM_001003791.2;ERLIN2,downstream_gene_variant,,ENST00000523107,;ERLIN2,non_coding_transcript_exon_variant,,ENST00000521993,;RP11-863K10.4,upstream_gene_variant,,ENST00000453751,;RP11-863K10.4,upstream_gene_variant,,ENST00000521192,;					0,1		MODERATE	539/1020	R180H	ERLN2_HUMAN			Transcript		probably_damaging(0.916)	.	ENSP00000276461		CCDS6095.1			1	
CEP170	0	LGGM	GRCh37	1	243327799	243327799	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	5	.	.	ENST00000366542.1:c.3463A>T	p.Arg1155Ter	p.R1155*	ENST00000366542	NM_014812.2	1155	Aga/Tga	0	1	1	UPI0000470238	0	NA	ENST00000366542		ENSG00000143702	28920		28	0		HGNC	p.R1057X		CEP170		SNV							ENST00000366544	protein_coding	getma.org/?cm=var&var=hg19,1,243327799,T,A&fts=all		Pfam_domain:PF15308,hmmpanther:PTHR15715,hmmpanther:PTHR15715:SF17		R/*		A	NA	3515/6828		NA		Q9NSN9_HUMAN,E5RJT5_HUMAN,E5RIH6_HUMAN,E5RFU8_HUMAN			YES	CEP170,stop_gained,p.Arg1155Ter,ENST00000366542,NM_014812.2;CEP170,stop_gained,p.Arg1057Ter,ENST00000366544,NM_001042404.1;CEP170,stop_gained,p.Arg1057Ter,ENST00000366543,NM_001042405.1;CEP170,stop_gained,p.Arg1119Ter,ENST00000336415,;CEP170,upstream_gene_variant,,ENST00000490813,;CEP170,upstream_gene_variant,,ENST00000413359,;CEP170,upstream_gene_variant,,ENST00000464936,;CEP170,downstream_gene_variant,,ENST00000522895,;CEP170,upstream_gene_variant,,ENST00000492145,;RP11-261C10.4,upstream_gene_variant,,ENST00000437499,;RP11-261C10.4,upstream_gene_variant,,ENST00000422938,;CEP170,downstream_gene_variant,,ENST00000451408,;CEP170,downstream_gene_variant,,ENST00000518289,;							HIGH	3463/4755	R1155*	CE170_HUMAN			Transcript			.	ENSP00000355500		CCDS44339.1			1	
CCT7	0	LGGM	GRCh37	2	73476253	73476253	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000258091.5:c.918G>T	p.Arg306Ser	p.R306S	ENST00000258091	NM_006429.3	306	agG/agT	0	1	1	UPI0000136B06	0	getma.org/pdb.php?prot=TCPH_HUMAN&from=32&to=524&var=R306S	ENST00000258091		ENSG00000135624	1622		31	2.36		HGNC	p.R306S		CCT7		SNV							ENST00000258091	protein_coding	getma.org/?cm=var&var=hg19,2,73476253,G,T&fts=all		Superfamily_domains:SSF52029,Gene3D:3.50.7.10,Pfam_domain:PF00118,TIGRFAM_domain:TIGR02345,hmmpanther:PTHR11353:SF22,hmmpanther:PTHR11353		R/S		T	medium	1059/1916		getma.org/?cm=msa&ty=f&p=TCPH_HUMAN&rb=32&re=524&var=R306S	deleterious(0)	F8WAM2_HUMAN			YES	CCT7,missense_variant,p.Arg262Ser,ENST00000539919,NM_001166285.1;CCT7,missense_variant,p.Arg306Ser,ENST00000258091,NM_006429.3;CCT7,missense_variant,p.Arg178Ser,ENST00000538797,;CCT7,missense_variant,p.Arg206Ser,ENST00000537131,;CCT7,missense_variant,p.Arg219Ser,ENST00000540468,NM_001166284.1;CCT7,missense_variant,p.Arg102Ser,ENST00000398422,NM_001009570.2;CCT7,non_coding_transcript_exon_variant,,ENST00000473786,;CCT7,downstream_gene_variant,,ENST00000469844,;CCT7,downstream_gene_variant,,ENST00000461290,;CCT7,downstream_gene_variant,,ENST00000488856,;CCT7,downstream_gene_variant,,ENST00000409924,;							MODERATE	918/1632	R306S	TCPH_HUMAN			Transcript		possibly_damaging(0.534)	.	ENSP00000258091		CCDS46336.1			1	
CDK11A	0	LGGM	GRCh37	1	1638970	1638970	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	5	.	.	ENST00000404249.3:c.1123G>A	p.Glu375Lys	p.E375K	ENST00000404249	NM_024011.2	375	Gaa/Aaa	0	1		UPI00003664B8	0	NA	ENST00000378633		ENSG00000008128	1730		16	0.695		HGNC	p.E378K	rs772021911	CDK11A	7.05E-05	SNV							ENST00000378633	protein_coding	getma.org/?cm=var&var=hg19,1,1638970,C,T&fts=all		Low_complexity_(Seg):seg		E/K		T	neutral	1212/2458		getma.org/?cm=msa&ty=f&p=CD11A_HUMAN&rb=371&re=425&var=E378K	tolerated_low_confidence(0.12)	Q5QPQ9_HUMAN,Q4VBY6_HUMAN,E9PFJ2_HUMAN				CDK11A,missense_variant,p.Glu341Lys,ENST00000356200,;CDK11A,missense_variant,p.Glu378Lys,ENST00000378633,;CDK11A,missense_variant,p.Glu375Lys,ENST00000404249,NM_024011.2,NM_033486.1;CDK11A,missense_variant,p.Glu374Lys,ENST00000357760,NM_033492.1;CDK11A,missense_variant,p.Glu341Lys,ENST00000378638,NM_033489.1;CDK11A,missense_variant,p.Glu365Lys,ENST00000358779,NM_033529.2,NM_033493.1,NM_033488.1;CDK11A,3_prime_UTR_variant,,ENST00000378635,;RP1-283E3.8,non_coding_transcript_exon_variant,,ENST00000598846,;CDK11A,upstream_gene_variant,,ENST00000495016,;CDK11A,missense_variant,p.Glu375Lys,ENST00000460465,;CDK11A,missense_variant,p.Glu388Lys,ENST00000509982,;CDK11A,non_coding_transcript_exon_variant,,ENST00000356937,;CDK11A,non_coding_transcript_exon_variant,,ENST00000492390,;CDK11A,non_coding_transcript_exon_variant,,ENST00000468800,;CDK11A,non_coding_transcript_exon_variant,,ENST00000474916,;CDK11A,upstream_gene_variant,,ENST00000463652,;CDK11A,upstream_gene_variant,,ENST00000478901,;CDK11A,upstream_gene_variant,,ENST00000468397,;CDK11A,upstream_gene_variant,,ENST00000491311,;CDK11A,upstream_gene_variant,,ENST00000489300,;CDK11A,upstream_gene_variant,,ENST00000464748,;							MODERATE	1132/2352	E378K	CD11A_HUMAN			Transcript		unknown(0)	.	ENSP00000367900	8.31E-06				1	
MARS	0	LGGM	GRCh37	12	57891966	57891966	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	5	.	.	ENST00000262027.5:c.797T>C	p.Val266Ala	p.V266A	ENST00000262027	NM_004990.3	266	gTg/gCg	0	1	1	UPI0000136597	0	getma.org/pdb.php?prot=SYMC_HUMAN&from=266&to=658&var=V266A	ENST00000262027		ENSG00000166986	6898		33	1.875		HGNC	p.V266A		MARS		SNV			1				ENST00000537638	protein_coding	getma.org/?cm=var&var=hg19,12,57891966,T,C&fts=all		Superfamily_domains:SSF52374,Gene3D:3.40.50.620,Pfam_domain:PF09334,hmmpanther:PTHR11946,hmmpanther:PTHR11946:SF69,HAMAP:MF_00098		V/A		C	low	931/2905		getma.org/?cm=msa&ty=f&p=SYMC_HUMAN&rb=266&re=658&var=V266A	deleterious(0)				YES	MARS,missense_variant,p.Val266Ala,ENST00000262027,NM_004990.3;MARS,missense_variant,p.Val32Ala,ENST00000315473,;MARS,intron_variant,,ENST00000552371,;MARS,upstream_gene_variant,,ENST00000548944,;MARS,non_coding_transcript_exon_variant,,ENST00000447721,;MARS,non_coding_transcript_exon_variant,,ENST00000548674,;MARS,missense_variant,p.Val266Ala,ENST00000537638,;MARS,3_prime_UTR_variant,,ENST00000545888,;MARS,3_prime_UTR_variant,,ENST00000551892,;MARS,3_prime_UTR_variant,,ENST00000549074,;MARS,upstream_gene_variant,,ENST00000549827,;							MODERATE	797/2703	V266A	SYMC_HUMAN			Transcript		possibly_damaging(0.848)	.	ENSP00000262027		CCDS8942.1			1	
PGR	0	LGGM	GRCh37	11	100999681	100999681	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	4	5	.	.	ENST00000325455.5:c.121A>T	p.Thr41Ser	p.T41S	ENST00000325455	NM_001202474.3	41	Acc/Tcc	0	1	1	UPI0000046E22	0	NA	ENST00000325455		ENSG00000082175	8910		9	1.905		HGNC	p.T41S		PGR		SNV							ENST00000325455	protein_coding	getma.org/?cm=var&var=hg19,11,100999681,T,A&fts=all		Pfam_domain:PF02161,hmmpanther:PTHR24084,hmmpanther:PTHR24084:SF7		T/S		A	medium	1575/13748		getma.org/?cm=msa&ty=f&p=PRGR_HUMAN&rb=1&re=564&var=T41S	tolerated_low_confidence(0.21)	Q6TZ07_HUMAN			YES	PGR,missense_variant,p.Thr41Ser,ENST00000325455,NM_001202474.3,NM_000926.4,NM_001271162.1;PGR,missense_variant,p.Thr41Ser,ENST00000263463,NM_001271161.2;PGR,intron_variant,,ENST00000534013,;PGR,missense_variant,p.Thr41Ser,ENST00000534780,;PGR,missense_variant,p.Thr41Ser,ENST00000528960,;PGR,missense_variant,p.Thr41Ser,ENST00000526300,;							MODERATE	121/2802	T41S	PRGR_HUMAN			Transcript		benign(0.067)	.	ENSP00000325120		CCDS8310.1			1	
VSTM5	0	LGGM	GRCh37	11	93554330	93554330	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	5	.	.	ENST00000409977.1:c.251G>A	p.Gly84Glu	p.G84E	ENST00000409977	NM_001144871.1	84	gGg/gAg	0	1	1	UPI00001AEA3E	0	getma.org/pdb.php?prot=VSTM5_HUMAN&from=37&to=139&var=G84E	ENST00000409977		ENSG00000214376	34443		44	2.095		HGNC	p.G84E		VSTM5		SNV							ENST00000409977	protein_coding	getma.org/?cm=var&var=hg19,11,93554330,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF54,SMART_domains:SM00409,Superfamily_domains:SSF48726		G/E		T	medium	280/2969		getma.org/?cm=msa&ty=f&p=VSTM5_HUMAN&rb=37&re=139&var=G84E	tolerated(0.09)				YES	VSTM5,missense_variant,p.Gly84Glu,ENST00000409977,NM_001144871.1;VSTM5,non_coding_transcript_exon_variant,,ENST00000414919,;VSTM5,upstream_gene_variant,,ENST00000398221,;							MODERATE	251/603	G84E	VSTM5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000386607		CCDS44709.1			1	
MACF1	0	LGGM	GRCh37	1	39926416	39926416	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	5	.	.	ENST00000545844.1:c.15296A>G	p.Gln5099Arg	p.Q5099R	ENST00000545844		5099	cAg/cGg	0	1		UPI0001F78894	0	getma.org/pdb.php?prot=F8W8Q1_HUMAN&from=5001&to=5200&var=Q5099R	ENST00000372915		ENSG00000127603	13664		71	0.33		HGNC	p.Q5099R		MACF1		SNV							ENST00000317713	protein_coding	getma.org/?cm=var&var=hg19,1,39926416,A,G&fts=all		Gene3D:1.10.238.10,Pfam_domain:PF13499,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,SMART_domains:SM00054,Superfamily_domains:SSF47473		Q/R		G	neutral	21257/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=5001&re=5200&var=Q5099R		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Gln7158Arg,ENST00000564288,;MACF1,missense_variant,p.Gln7195Arg,ENST00000567887,;MACF1,missense_variant,p.Gln7057Arg,ENST00000372915,;MACF1,missense_variant,p.Gln5601Arg,ENST00000289893,;MACF1,missense_variant,p.Gln5099Arg,ENST00000545844,;MACF1,missense_variant,p.Gln5099Arg,ENST00000317713,;MACF1,missense_variant,p.Gln5099Arg,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Gln4969Arg,ENST00000539005,;MACF1,missense_variant,p.Gln4103Arg,ENST00000372925,;MACF1,missense_variant,p.Gln206Arg,ENST00000360115,;MACF1,missense_variant,p.Gln81Arg,ENST00000446276,;MACF1,upstream_gene_variant,,ENST00000442046,;MACF1,upstream_gene_variant,,ENST00000422234,;MACF1,non_coding_transcript_exon_variant,,ENST00000497964,;MACF1,upstream_gene_variant,,ENST00000462496,;							MODERATE	21170/22167	Q5099R	MACF1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000362006					1	
RGS9	0	LGGM	GRCh37	17	63198140	63198140	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	5	.	.	ENST00000262406.9:c.1006G>A	p.Glu336Lys	p.E336K	ENST00000262406	NM_003835.3	336	Gag/Aag	0	1	1	UPI000013382A	0	getma.org/pdb.php?prot=RGS9_HUMAN&from=302&to=416&var=E336K	ENST00000262406		ENSG00000108370	10004		42	3.78		HGNC	p.E336K		RGS9		SNV			1				ENST00000262406	protein_coding	getma.org/?cm=var&var=hg19,17,63198140,G,A&fts=all		Gene3D:1.10.167.10,Pfam_domain:PF00615,Prints_domain:PR01301,PROSITE_profiles:PS50132,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF20,SMART_domains:SM00315,Superfamily_domains:SSF48097		E/K		A	high	1073/2375		getma.org/?cm=msa&ty=f&p=RGS9_HUMAN&rb=302&re=416&var=E336K	tolerated(0.08)				YES	RGS9,missense_variant,p.Glu333Lys,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Glu336Lys,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Glu333Lys,ENST00000443584,NM_001165933.1;RGS9,missense_variant,p.Glu336Lys,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000577595,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;							MODERATE	1006/2025	E336K	RGS9_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262406		CCDS42373.1			1	
FNDC1	0	LGGM	GRCh37	6	159621038	159621038	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	5	.	.	ENST00000297267.9:c.315A>T	p.Val105=	p.V105=	ENST00000297267	NM_032532.2	105	gtA/gtT	0	1	1	UPI0000579B80	0		ENST00000297267		ENSG00000164694	21184	0.000241	30			HGNC	p.V105V	rs764811226	FNDC1		SNV							ENST00000297267	protein_coding			PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		V		T		515/6552							YES	FNDC1,synonymous_variant,p.=,ENST00000297267,NM_032532.2;FNDC1,synonymous_variant,p.=,ENST00000340366,;FNDC1,synonymous_variant,p.=,ENST00000329629,;							LOW	315/5685		FNDC1_HUMAN			Transcript			.	ENSP00000297267	8.27E-06	CCDS47512.1			1	
MAGEL2	0	LGGM	GRCh37	15	23890064	23890064	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	5	.	.	ENST00000532292.1:c.1017C>T	p.Gly339=	p.G339=	ENST00000532292	NM_019066.4	339	ggC/ggT	0	1	1	UPI00005A89F6	0		ENST00000532292		ENSG00000254585	6814		19			HGNC	p.G339G	rs373597907	MAGEL2		SNV	A:0.0005		1	0.000416			ENST00000532292	protein_coding			hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF66		G	A:0	A		1112/2485				Q6P3U4_HUMAN,Q2M1Q7_HUMAN,Q05BN9_HUMAN,H0YDD5_HUMAN			YES	MAGEL2,synonymous_variant,p.=,ENST00000532292,NM_019066.4;AC124309.1,non_coding_transcript_exon_variant,,ENST00000314233,;							LOW	1017/1941					Transcript			common_variant	ENSP00000433433	3.31E-05				1	
SYNC	0	LGGM	GRCh37	1	33161262	33161262	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	5	.	.	ENST00000409190.3:c.437C>T	p.Ala146Val	p.A146V	ENST00000409190	NM_030786.2	146	gCg/gTg	0	1	1	UPI0001881B1E	0	NA	ENST00000409190		ENSG00000162520	28897		16	0.28		HGNC	p.A146V		SYNC		SNV							ENST00000409190	protein_coding	getma.org/?cm=var&var=hg19,1,33161262,G,A&fts=all				A/V		A	neutral	896/3398		getma.org/?cm=msa&ty=f&p=SYNCI_HUMAN&rb=1&re=168&var=A146V	tolerated_low_confidence(0.14)	C9JTN4_HUMAN,C9JSS1_HUMAN			YES	SYNC,missense_variant,p.Ala146Val,ENST00000373484,NM_001161708.1;SYNC,missense_variant,p.Ala146Val,ENST00000409190,NM_030786.2;SYNC,missense_variant,p.Ala58Val,ENST00000417633,;SYNC,missense_variant,p.Ala58Val,ENST00000426909,;							MODERATE	437/1449	A146V	SYNCI_HUMAN			Transcript		benign(0)	.	ENSP00000386439		CCDS367.2			1	
CAMK1G	0	LGGM	GRCh37	1	209782338	209782338	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	61	5	.	.	ENST00000009105.1:c.649C>T	p.Pro217Ser	p.P217S	ENST00000009105		217	Ccc/Tcc	0	1	1	UPI0000049BF8	0	getma.org/pdb.php?prot=KCC1G_HUMAN&from=23&to=277&var=P217S	ENST00000009105		ENSG00000008118	14585		66	1.09		HGNC	p.P217S		CAMK1G		SNV							ENST00000361322	protein_coding	getma.org/?cm=var&var=hg19,1,209782338,C,T&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24347:SF114,hmmpanther:PTHR24347,PROSITE_profiles:PS50011		P/S		T	low	894/2612		getma.org/?cm=msa&ty=f&p=KCC1G_HUMAN&rb=23&re=277&var=P217S	deleterious(0)				YES	CAMK1G,missense_variant,p.Pro217Ser,ENST00000009105,;CAMK1G,missense_variant,p.Pro217Ser,ENST00000361322,NM_020439.2;CAMK1G,synonymous_variant,p.=,ENST00000423146,;CAMK1G,non_coding_transcript_exon_variant,,ENST00000494990,;							MODERATE	649/1431	P217S	KCC1G_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000009105		CCDS1486.1			1	
FOS	0	LGGM	GRCh37	14	75745768	75745768	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	5	.	.	ENST00000303562.4:c.83C>T	p.Ser28Phe	p.S28F	ENST00000303562	NM_005252.3	28	tCt/tTt	0	1	1	UPI000000D8F5	0	NA	ENST00000303562		ENSG00000170345	3796		23	1.385		HGNC	p.S28F	rs563193220	FOS		SNV			1	9.82E-05			ENST00000555242	protein_coding	getma.org/?cm=var&var=hg19,14,75745768,C,T&fts=all	T:0.0008	hmmpanther:PTHR23351,hmmpanther:PTHR23351:SF4		S/F		T	low	292/2158		getma.org/?cm=msa&ty=f&p=FOS_HUMAN&rb=1&re=134&var=S28F	deleterious(0.05)	Q76MZ0_HUMAN,Q76MY9_HUMAN,Q6FG41_HUMAN,G3V2V7_HUMAN,A8K4E2_HUMAN	T:0	T:0	YES	FOS,missense_variant,p.Ser28Phe,ENST00000303562,NM_005252.3;FOS,missense_variant,p.Ser28Phe,ENST00000535987,;FOS,missense_variant,p.Ser28Phe,ENST00000554617,;FOS,missense_variant,p.Ser28Phe,ENST00000555242,;FOS,missense_variant,p.Ser28Phe,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,;		T:0.0002					MODERATE	83/1143	S28F	FOS_HUMAN		T:0	Transcript		benign(0.252)	.	ENSP00000306245	8.24E-06	CCDS9841.1		T:0	1	
ZKSCAN3	0	LGGM	GRCh37	6	28333527	28333527	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	5	.	.	ENST00000377255.3:c.1082A>T	p.Gln361Leu	p.Q361L	ENST00000377255	NM_001242894.1	361	cAg/cTg	0	1		UPI000013CD4A	0	getma.org/pdb.php?prot=ZKSC3_HUMAN&from=356&to=381&var=Q361L	ENST00000252211		ENSG00000189298	13853		37	-0.27		HGNC	p.Q213L		ZKSCAN3		SNV							ENST00000341464	protein_coding	getma.org/?cm=var&var=hg19,6,28333527,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF55,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		Q/L		T	neutral	1298/2294		getma.org/?cm=msa&ty=f&p=ZKSC3_HUMAN&rb=336&re=401&var=Q361L	deleterious(0)					ZKSCAN3,missense_variant,p.Gln361Leu,ENST00000377255,NM_001242894.1;ZKSCAN3,missense_variant,p.Gln361Leu,ENST00000252211,NM_024493.3;ZKSCAN3,missense_variant,p.Gln213Leu,ENST00000341464,NM_001242895.1;							MODERATE	1082/1617	Q361L	ZKSC3_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000252211		CCDS4650.1			1	
FLYWCH1	0	LGGM	GRCh37	16	2983852	2983852	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	5	.	.	ENST00000416288.2:c.1382G>A	p.Ser461Asn	p.S461N	ENST00000416288	NM_032296.2	461	aGc/aAc	0	1		UPI000013CE05	0	getma.org/pdb.php?prot=FWCH1_HUMAN&from=421&to=479&var=S462N	ENST00000253928		ENSG00000059122	25404		10	2.125		HGNC	p.S462N		FLYWCH1		SNV							ENST00000253928	protein_coding	getma.org/?cm=var&var=hg19,16,2983852,G,A&fts=all		Pfam_domain:PF04500,hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF2		S/N		A	medium	1790/5037		getma.org/?cm=msa&ty=f&p=FWCH1_HUMAN&rb=421&re=479&var=S462N	deleterious(0.01)	I3L231_HUMAN,I3L0R3_HUMAN				FLYWCH1,missense_variant,p.Ser462Asn,ENST00000399667,;FLYWCH1,missense_variant,p.Ser462Asn,ENST00000253928,;FLYWCH1,missense_variant,p.Ser461Asn,ENST00000416288,NM_032296.2,NM_020912.1;FLYWCH1,missense_variant,p.Ser191Asn,ENST00000344592,;FLYWCH1,missense_variant,p.Ser225Asn,ENST00000573564,;FLYWCH1,missense_variant,p.Ser19Asn,ENST00000571580,;FLYWCH1,upstream_gene_variant,,ENST00000575679,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,downstream_gene_variant,,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000571983,;FLYWCH1,non_coding_transcript_exon_variant,,ENST00000575604,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;FLYWCH1,upstream_gene_variant,,ENST00000574985,;							MODERATE	1385/2151	S462N	FWCH1_HUMAN			Transcript		benign(0.313)	.	ENSP00000253928					1	
TNR	0	LGGM	GRCh37	1	175375414	175375414	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000367674.2:c.437G>A	p.Arg146Lys	p.R146K	ENST00000367674		146	aGg/aAg	0	1		UPI000013D41C	0	NA	ENST00000263525		ENSG00000116147	11953		34	0.755		HGNC	p.R146K		TNR		SNV							ENST00000263525	protein_coding	getma.org/?cm=var&var=hg19,1,175375414,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF39		R/K		T	neutral	992/5190		getma.org/?cm=msa&ty=f&p=TENR_HUMAN&rb=1&re=200&var=R146K	tolerated(0.13)	A1L306_HUMAN				TNR,missense_variant,p.Arg146Lys,ENST00000367674,;TNR,missense_variant,p.Arg146Lys,ENST00000263525,NM_003285.2;TNR,missense_variant,p.Arg30Lys,ENST00000422274,;							MODERATE	437/4077	R146K	TENR_HUMAN			Transcript		benign(0.081)	.	ENSP00000263525		CCDS1318.1			1	
GABRA6	0	LGGM	GRCh37	5	161128624	161128624	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	5	.	.	ENST00000274545.5:c.1207A>G	p.Thr403Ala	p.T403A	ENST00000274545		403	Aca/Gca	0	1	1	UPI000013DA14	0	NA	ENST00000274545		ENSG00000145863	4080		47	0.805		HGNC	p.T403A		GABRA6		SNV							ENST00000274545	protein_coding	getma.org/?cm=var&var=hg19,5,161128624,A,G&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF335,Superfamily_domains:SSF90112		T/A		G	low	1640/2128		getma.org/?cm=msa&ty=f&p=GBRA6_HUMAN&rb=388&re=453&var=T403A	tolerated(0.65)	Q71UU0_HUMAN			YES	GABRA6,missense_variant,p.Thr393Ala,ENST00000523217,NM_000811.2;GABRA6,missense_variant,p.Thr403Ala,ENST00000274545,;GABRA6,non_coding_transcript_exon_variant,,ENST00000521520,;							MODERATE	1207/1362	T403A	GBRA6_HUMAN			Transcript		benign(0.013)	.	ENSP00000274545		CCDS4356.1			1	
CDKL2	0	LGGM	GRCh37	4	76523379	76523379	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000429927.2:c.902A>T	p.Gln301Leu	p.Q301L	ENST00000429927	NM_003948.3	301	cAg/cTg	0	1	1	UPI000006D070	0	NA	ENST00000429927		ENSG00000138769	1782		34	0.695		HGNC	p.Q301L		CDKL2		SNV							ENST00000307465	protein_coding	getma.org/?cm=var&var=hg19,4,76523379,T,A&fts=all		hmmpanther:PTHR24056,hmmpanther:PTHR24056:SF160,Gene3D:1.10.510.10		Q/L		A	neutral	1606/3383		getma.org/?cm=msa&ty=f&p=CDKL2_HUMAN&rb=288&re=487&var=Q301L	deleterious(0.01)				YES	CDKL2,missense_variant,p.Gln301Leu,ENST00000429927,NM_003948.3;CDKL2,missense_variant,p.Gln301Leu,ENST00000307465,;CDKL2,3_prime_UTR_variant,,ENST00000506234,;CDKL2,upstream_gene_variant,,ENST00000515793,;							MODERATE	902/1482	Q301L	CDKL2_HUMAN			Transcript		benign(0.001)	.	ENSP00000412365		CCDS3570.1			1	
RNF17	0	LGGM	GRCh37	13	25373605	25373605	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	5	.	.	ENST00000255324.5:c.1472T>C	p.Ile491Thr	p.I491T	ENST00000255324	NM_031277.2	491	aTa/aCa	0	1	1	UPI00001FC8BA	0	NA	ENST00000255324		ENSG00000132972	10060		67	0.695		HGNC	p.I492T		RNF17		SNV							ENST00000255325	protein_coding	getma.org/?cm=var&var=hg19,13,25373605,T,C&fts=all		hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748		I/T		C	neutral	1524/5119		getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=411&re=532&var=I491T	tolerated(0.14)				YES	RNF17,missense_variant,p.Ile491Thr,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.Ile491Thr,ENST00000381921,;RNF17,missense_variant,p.Ile491Thr,ENST00000255325,;RNF17,upstream_gene_variant,,ENST00000418120,;RNF17,downstream_gene_variant,,ENST00000255326,;							MODERATE	1472/4872	I491T	RNF17_HUMAN			Transcript		benign(0.192)	.	ENSP00000255324		CCDS9308.2			1	
HSPG2	0	LGGM	GRCh37	1	22213958	22213958	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	5	.	.	ENST00000374695.3:c.913G>T	p.Asp305Tyr	p.D305Y	ENST00000374695	NM_005529.5	305	Gac/Tac	0	1	1	UPI0000212778	0	getma.org/pdb.php?prot=PGBM_HUMAN&from=283&to=319&var=D305Y	ENST00000374695		ENSG00000142798	5273		28	4.345		HGNC	p.D305Y		HSPG2		SNV			1				ENST00000374695	protein_coding	getma.org/?cm=var&var=hg19,1,22213958,C,A&fts=all		PROSITE_profiles:PS50068,PROSITE_patterns:PS01209,Pfam_domain:PF00057,Gene3D:4.10.400.10,SMART_domains:SM00181,SMART_domains:SM00192,Superfamily_domains:SSF57424,Prints_domain:PR00261		D/Y		A	high	993/14327		getma.org/?cm=msa&ty=f&p=PGBM_HUMAN&rb=283&re=319&var=D305Y		B6EU51_HUMAN			YES	HSPG2,missense_variant,p.Asp305Tyr,ENST00000374695,NM_005529.5;HSPG2,missense_variant,p.Asp132Tyr,ENST00000374673,;HSPG2,synonymous_variant,p.=,ENST00000412328,;HSPG2,downstream_gene_variant,,ENST00000439717,;							MODERATE	913/13176	D305Y	PGBM_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000363827		CCDS30625.1			1	
GUCA1B	0	LGGM	GRCh37	6	42156321	42156321	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	5	.	.	ENST00000230361.3:c.356A>G	p.Glu119Gly	p.E119G	ENST00000230361	NM_002098.5	119	gAg/gGg	0	1	1	UPI000013C92C	0	getma.org/pdb.php?prot=GUC1B_HUMAN&from=97&to=130&var=E119G	ENST00000230361		ENSG00000112599	4679		25	1.465		HGNC	p.E119G		GUCA1B		SNV			1				ENST00000230361	protein_coding	getma.org/?cm=var&var=hg19,6,42156321,T,C&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23055:SF11,hmmpanther:PTHR23055,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450		E/G		C	low	452/1113		getma.org/?cm=msa&ty=f&p=GUC1B_HUMAN&rb=97&re=130&var=E119G	deleterious(0.03)				YES	GUCA1B,missense_variant,p.Glu119Gly,ENST00000230361,NM_002098.5;							MODERATE	356/603	E119G	GUC1B_HUMAN			Transcript		benign(0.024)	.	ENSP00000230361		CCDS4865.1			1	
DCHS2	0	LGGM	GRCh37	4	155287364	155287364	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000357232.4:c.692C>T	p.Thr231Ile	p.T231I	ENST00000357232	NM_017639.3	231	aCa/aTa	0	1	1	UPI000035B018	0	NA	ENST00000357232		ENSG00000197410	23111		31	2.78		HGNC	p.T825I		DCHS2		SNV							ENST00000339452	protein_coding	getma.org/?cm=var&var=hg19,4,155287364,G,A&fts=all		PROSITE_profiles:PS50268,Gene3D:2.60.40.60,Superfamily_domains:SSF49313		T/I		A	medium	692/11040		getma.org/?cm=msa&ty=f&p=PCD23_HUMAN&rb=178&re=382&var=T231I	deleterious(0)	B3KT73_HUMAN			YES	DCHS2,missense_variant,p.Thr231Ile,ENST00000357232,NM_017639.3;DCHS2,missense_variant,p.Thr825Ile,ENST00000339452,NM_001142552.1;							MODERATE	692/8751	T231I	PCD23_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000349768		CCDS3785.1			1	
CA10	0	LGGM	GRCh37	17	49726612	49726612	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	5	.	.	ENST00000451037.2:c.565T>A	p.Ser189Thr	p.S189T	ENST00000451037	NM_020178.4	189	Tct/Act	0	1		UPI000000167C	0	getma.org/pdb.php?prot=CAH10_HUMAN&from=33&to=301&var=S189T	ENST00000285273		ENSG00000154975	1369		28	0.88		HGNC	p.S189T		CA10		SNV							ENST00000285273	protein_coding	getma.org/?cm=var&var=hg19,17,49726612,A,T&fts=all		PROSITE_profiles:PS51144,hmmpanther:PTHR18952:SF91,hmmpanther:PTHR18952,Pfam_domain:PF00194,Gene3D:3.10.200.10,SMART_domains:SM01057,Superfamily_domains:SSF51069		S/T		T	low	1677/2914		getma.org/?cm=msa&ty=f&p=CAH10_HUMAN&rb=33&re=301&var=S189T	tolerated(0.16)	I3L375_HUMAN,B4DGL6_HUMAN				CA10,missense_variant,p.Ser189Thr,ENST00000451037,NM_020178.4;CA10,missense_variant,p.Ser189Thr,ENST00000442502,NM_001082534.1;CA10,missense_variant,p.Ser189Thr,ENST00000285273,NM_001082533.1;CA10,missense_variant,p.Ser195Thr,ENST00000340813,;CA10,missense_variant,p.Ser114Thr,ENST00000570565,;CA10,missense_variant,p.Ser189Thr,ENST00000575181,;CA10,non_coding_transcript_exon_variant,,ENST00000571918,;CA10,3_prime_UTR_variant,,ENST00000571371,;							MODERATE	565/987	S189T	CAH10_HUMAN			Transcript		benign(0.004)	.	ENSP00000285273		CCDS32684.1			1	
ATP1A3	0	LGGM	GRCh37	19	42490028	42490028	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	5	.	.	ENST00000545399.1:c.633C>T	p.Ala211=	p.A211=	ENST00000545399	NM_001256214.1	211	gcC/gcT	0	1		UPI000013E791	0		ENST00000302102		ENSG00000105409	801		49			HGNC	p.A168A		ATP1A3		SNV			1				ENST00000473086	protein_coding			Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF259,TIGRFAM_domain:TIGR01106,TIGRFAM_domain:TIGR01494		A		A		745/3548				Q58I21_HUMAN,M0R116_HUMAN,M0QXF2_HUMAN				ATP1A3,synonymous_variant,p.=,ENST00000545399,NM_001256214.1;ATP1A3,synonymous_variant,p.=,ENST00000302102,NM_152296.4;ATP1A3,synonymous_variant,p.=,ENST00000543770,NM_001256213.1;ATP1A3,synonymous_variant,p.=,ENST00000602133,;ATP1A3,synonymous_variant,p.=,ENST00000473086,;ATP1A3,downstream_gene_variant,,ENST00000468774,;ATP1A3,downstream_gene_variant,,ENST00000465007,;ATP1A3,synonymous_variant,p.=,ENST00000441343,;ATP1A3,upstream_gene_variant,,ENST00000485672,;							LOW	594/3042		AT1A3_HUMAN			Transcript			.	ENSP00000302397		CCDS12594.1			1	
INPP4B	0	LGGM	GRCh37	4	142950067	142950067	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	5	.	.	ENST00000262992.4:c.2643A>T	p.Arg881Ser	p.R881S	ENST00000262992	NM_001101669.1	881	agA/agT	0	1		UPI000013D37A	0	NA	ENST00000262992		ENSG00000109452	6075		38	-0.035		HGNC	p.R881S		INPP4B		SNV							ENST00000508116	protein_coding	getma.org/?cm=var&var=hg19,4,142950067,T,A&fts=all		hmmpanther:PTHR12187:SF3,hmmpanther:PTHR12187		R/S		A	neutral	2860/3741		getma.org/?cm=msa&ty=f&p=INP4B_HUMAN&rb=782&re=924&var=R881S	tolerated(1)	E9PCZ3_HUMAN,D6RJC3_HUMAN,D6RE59_HUMAN,D6R9J5_HUMAN				INPP4B,missense_variant,p.Arg881Ser,ENST00000513000,NM_003866.2;INPP4B,missense_variant,p.Arg881Ser,ENST00000262992,NM_001101669.1;INPP4B,missense_variant,p.Arg881Ser,ENST00000508116,;INPP4B,missense_variant,p.Arg881Ser,ENST00000308502,;INPP4B,downstream_gene_variant,,ENST00000509777,;							MODERATE	2643/2775	R881S	INP4B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262992		CCDS3757.1			1	
STK32B	0	LGGM	GRCh37	4	5448481	5448481	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	5	.	.	ENST00000282908.5:c.644C>T	p.Ala215Val	p.A215V	ENST00000282908	NM_018401.1	215	gCc/gTc	0	1	1	UPI0000035B46	0	getma.org/pdb.php?prot=ST32B_HUMAN&from=23&to=283&var=A215V	ENST00000282908		ENSG00000152953	14217		21	0.735		HGNC	p.A138V		STK32B		SNV							ENST00000512636	protein_coding	getma.org/?cm=var&var=hg19,4,5448481,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24356:SF137,hmmpanther:PTHR24356,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/V		T	neutral	1066/3582		getma.org/?cm=msa&ty=f&p=ST32B_HUMAN&rb=23&re=283&var=A215V	tolerated(0.07)	Q69YP0_HUMAN			YES	STK32B,missense_variant,p.Ala215Val,ENST00000282908,NM_018401.1;STK32B,missense_variant,p.Ala138Val,ENST00000512636,;STK32B,missense_variant,p.Ala168Val,ENST00000510398,;STK32B,non_coding_transcript_exon_variant,,ENST00000508728,;STK32B,intron_variant,,ENST00000505508,;STK32B,3_prime_UTR_variant,,ENST00000512018,;STK32B,non_coding_transcript_exon_variant,,ENST00000511959,;							MODERATE	644/1245	A215V	ST32B_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000282908		CCDS3380.1			1	
PMEL	0	LGGM	GRCh37	12	56350899	56350899	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	5	.	.	ENST00000449260.2:c.1188G>A	p.Glu396=	p.E396=	ENST00000449260	NM_001200054.1	396	gaG/gaA	0	1		UPI0000000C2D	0		ENST00000548493		ENSG00000185664	10880		36			HGNC	p.E396E		PMEL		SNV							ENST00000449260	protein_coding			hmmpanther:PTHR11861,hmmpanther:PTHR11861:SF1		E		T		1298/2204				F8VZV2_HUMAN				PMEL,synonymous_variant,p.=,ENST00000548747,;PMEL,synonymous_variant,p.=,ENST00000552882,;PMEL,synonymous_variant,p.=,ENST00000548493,;PMEL,synonymous_variant,p.=,ENST00000360714,NM_006928.4;PMEL,synonymous_variant,p.=,ENST00000449260,NM_001200054.1;PMEL,synonymous_variant,p.=,ENST00000539511,;PMEL,synonymous_variant,p.=,ENST00000550464,NM_001200053.1;PMEL,synonymous_variant,p.=,ENST00000547137,;PMEL,intron_variant,,ENST00000536427,;PMEL,intron_variant,,ENST00000549404,;PMEL,intron_variant,,ENST00000550447,;PMEL,intron_variant,,ENST00000548803,;DGKA,downstream_gene_variant,,ENST00000331886,NM_001345.4;DGKA,downstream_gene_variant,,ENST00000394147,NM_201445.1,NM_201444.2,NM_201554.1;DGKA,downstream_gene_variant,,ENST00000551156,;DGKA,downstream_gene_variant,,ENST00000555218,;PMEL,downstream_gene_variant,,ENST00000546543,;DGKA,downstream_gene_variant,,ENST00000552903,;PMEL,downstream_gene_variant,,ENST00000549233,;PMEL,downstream_gene_variant,,ENST00000549418,;PMEL,non_coding_transcript_exon_variant,,ENST00000549564,;DGKA,downstream_gene_variant,,ENST00000549079,;PMEL,downstream_gene_variant,,ENST00000548689,;DGKA,downstream_gene_variant,,ENST00000552478,;DGKA,downstream_gene_variant,,ENST00000551739,;DGKA,downstream_gene_variant,,ENST00000551296,;DGKA,downstream_gene_variant,,ENST00000402956,;PMEL,downstream_gene_variant,,ENST00000550590,;PMEL,downstream_gene_variant,,ENST00000556802,;DGKA,downstream_gene_variant,,ENST00000551585,;PMEL,downstream_gene_variant,,ENST00000549430,;DGKA,downstream_gene_variant,,ENST00000548491,;PMEL,upstream_gene_variant,,ENST00000550762,;PMEL,downstream_gene_variant,,ENST00000549413,;DGKA,downstream_gene_variant,,ENST00000550957,;							LOW	1188/1986		PMEL_HUMAN			Transcript			.	ENSP00000447374		CCDS8897.1			1	
FHOD1	0	LGGM	GRCh37	16	67264249	67264249	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000258201.4:c.3019C>T	p.Arg1007Cys	p.R1007C	ENST00000258201	NM_013241.2	1007	Cgc/Tgc	0	1	1	UPI000013CFB9	0	NA	ENST00000258201		ENSG00000135723	17905		26	2.66		HGNC	p.R1007C	rs775305958	FHOD1	6.06E-05	SNV							ENST00000258201	protein_coding	getma.org/?cm=var&var=hg19,16,67264249,G,A&fts=all		PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF189,SMART_domains:SM00498,Superfamily_domains:SSF101447		R/C		A	medium	3267/3990		getma.org/?cm=msa&ty=f&p=FHOD1_HUMAN&rb=616&re=1013&var=R1007C	deleterious(0)				YES	FHOD1,missense_variant,p.Arg1007Cys,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,;TMEM208,downstream_gene_variant,,ENST00000563953,;TMEM208,downstream_gene_variant,,ENST00000565201,;TMEM208,downstream_gene_variant,,ENST00000304800,NM_014187.3;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,downstream_gene_variant,,ENST00000563426,;FHOD1,3_prime_UTR_variant,,ENST00000567561,;FHOD1,non_coding_transcript_exon_variant,,ENST00000567752,;FHOD1,non_coding_transcript_exon_variant,,ENST00000566006,;FHOD1,downstream_gene_variant,,ENST00000561922,;TMEM208,downstream_gene_variant,,ENST00000563168,;TMEM208,downstream_gene_variant,,ENST00000567193,;TMEM208,downstream_gene_variant,,ENST00000566486,;FHOD1,downstream_gene_variant,,ENST00000569888,;TMEM208,downstream_gene_variant,,ENST00000562235,;FHOD1,upstream_gene_variant,,ENST00000569085,;TMEM208,downstream_gene_variant,,ENST00000561586,;TMEM208,downstream_gene_variant,,ENST00000563271,;FHOD1,downstream_gene_variant,,ENST00000567509,;FHOD1,downstream_gene_variant,,ENST00000568595,;TMEM208,downstream_gene_variant,,ENST00000564087,;TMEM208,downstream_gene_variant,,ENST00000564649,;FHOD1,downstream_gene_variant,,ENST00000562266,;	0.000231						MODERATE	3019/3495	R1007C	FHOD1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258201	2.47E-05	CCDS10834.1			1	
RNF20	0	LGGM	GRCh37	9	104309475	104309475	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	5	.	.	ENST00000389120.3:c.951A>T	p.Thr317=	p.T317=	ENST00000389120	NM_019592.6	317	acA/acT	0	1	1	UPI00001CE3B5	0		ENST00000389120		ENSG00000155827	10062		63			HGNC	p.T317T		RNF20		SNV							ENST00000389120	protein_coding			hmmpanther:PTHR23163:SF2,hmmpanther:PTHR23163		T		T		1041/3936				C9JXC9_HUMAN,C9JWJ4_HUMAN,C9J0A5_HUMAN			YES	RNF20,synonymous_variant,p.=,ENST00000389120,NM_019592.6;AL591377.1,downstream_gene_variant,,ENST00000584534,;							LOW	951/2928		BRE1A_HUMAN			Transcript			.	ENSP00000373772		CCDS35084.1			1	
MYBPH	0	LGGM	GRCh37	1	203139560	203139560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	5	.	.	ENST00000255416.4:c.952G>A	p.Glu318Lys	p.E318K	ENST00000255416	NM_004997.2	318	Gag/Aag	0	1	1	UPI000000DA7B	0	getma.org/pdb.php?prot=MYBPH_HUMAN&from=268&to=351&var=E318K	ENST00000255416		ENSG00000133055	7552		30	2.655		HGNC	p.E318K		MYBPH		SNV							ENST00000255416	protein_coding	getma.org/?cm=var&var=hg19,1,203139560,C,T&fts=all		Prints_domain:PR00014,Superfamily_domains:SSF49265,SMART_domains:SM00060,Pfam_domain:PF00041,Gene3D:2.60.40.10,hmmpanther:PTHR19900:SF55,hmmpanther:PTHR19900,PROSITE_profiles:PS50853		E/K		T	medium	1010/1805		getma.org/?cm=msa&ty=f&p=MYBPH_HUMAN&rb=268&re=351&var=E318K	deleterious(0.01)				YES	MYBPH,missense_variant,p.Glu318Lys,ENST00000255416,NM_004997.2;ADORA1,downstream_gene_variant,,ENST00000367236,NM_001048230.1;ADORA1,downstream_gene_variant,,ENST00000337894,NM_000674.2;ADORA1,downstream_gene_variant,,ENST00000309502,;ADORA1,downstream_gene_variant,,ENST00000367235,;ADORA1,downstream_gene_variant,,ENST00000472535,;ADORA1,downstream_gene_variant,,ENST00000467253,;ADORA1,downstream_gene_variant,,ENST00000464019,;							MODERATE	952/1434	E318K	MYBPH_HUMAN			Transcript		possibly_damaging(0.871)	.	ENSP00000255416		CCDS30975.1			1	
RPUSD4	0	LGGM	GRCh37	11	126073390	126073390	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	5	.	.	ENST00000298317.4:c.1057C>A	p.Leu353Met	p.L353M	ENST00000298317	NM_032795.2	353	Ctg/Atg	0	1	1	UPI0000071274	0	NA	ENST00000298317		ENSG00000165526	25898		55	2.37		HGNC	p.L353M		RPUSD4		SNV							ENST00000298317	protein_coding	getma.org/?cm=var&var=hg19,11,126073390,G,T&fts=all		hmmpanther:PTHR10436,hmmpanther:PTHR10436:SF48,Superfamily_domains:SSF55120		L/M		T	medium	1111/2508		getma.org/?cm=msa&ty=f&p=RUSD4_HUMAN&rb=278&re=377&var=L353M	tolerated(0.09)	B4DUN4_HUMAN			YES	RPUSD4,missense_variant,p.Leu353Met,ENST00000298317,NM_032795.2;RPUSD4,missense_variant,p.Leu322Met,ENST00000533628,NM_001144827.1;RPUSD4,downstream_gene_variant,,ENST00000532674,;RPUSD4,downstream_gene_variant,,ENST00000534393,;RPUSD4,downstream_gene_variant,,ENST00000530036,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000526942,;RPUSD4,non_coding_transcript_exon_variant,,ENST00000530903,;							MODERATE	1057/1134	L353M	RUSD4_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000298317		CCDS8469.1			1	
SCD5	0	LGGM	GRCh37	4	83719582	83719582	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	5	.	.	ENST00000319540.4:c.109G>A	p.Gly37Ser	p.G37S	ENST00000319540	NM_001037582.2	37	Ggc/Agc	0	1	1	UPI000003F556	0	NA	ENST00000319540		ENSG00000145284	21088		24	0.515		HGNC	p.G37S		SCD5		SNV							ENST00000319540	protein_coding	getma.org/?cm=var&var=hg19,4,83719582,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11351,hmmpanther:PTHR11351:SF22		G/S		T	neutral	429/3101		getma.org/?cm=msa&ty=f&p=SCD5_HUMAN&rb=1&re=69&var=G37S	tolerated(0.73)				YES	SCD5,missense_variant,p.Gly37Ser,ENST00000319540,NM_001037582.2;SCD5,missense_variant,p.Gly37Ser,ENST00000273908,NM_024906.2;SCD5,missense_variant,p.Gly37Ser,ENST00000282709,;							MODERATE	109/993	G37S	SCD5_HUMAN			Transcript		benign(0.001)	.	ENSP00000316329		CCDS34024.1			1	
THEMIS2	0	LGGM	GRCh37	1	28206159	28206159	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000373921.3:c.240C>T	p.Tyr80=	p.Y80=	ENST00000373921	NM_001105556.1	80	taC/taT	0	1	1	UPI00001A796C	0		ENST00000373921		ENSG00000130775	16839		31			HGNC	p.Y80Y		THEMIS2		SNV							ENST00000373925	protein_coding			hmmpanther:PTHR15215,hmmpanther:PTHR15215:SF2,Pfam_domain:PF12736		Y		T		244/2687							YES	THEMIS2,synonymous_variant,p.=,ENST00000373921,NM_001105556.1;THEMIS2,synonymous_variant,p.=,ENST00000328928,NM_001286113.1;THEMIS2,synonymous_variant,p.=,ENST00000373925,NM_004848.2;THEMIS2,synonymous_variant,p.=,ENST00000427466,;THEMIS2,intron_variant,,ENST00000373927,NM_001039477.1;THEMIS2,intron_variant,,ENST00000442118,;THEMIS2,upstream_gene_variant,,ENST00000456990,;THEMIS2,non_coding_transcript_exon_variant,,ENST00000466068,;THEMIS2,intron_variant,,ENST00000467258,;THEMIS2,intron_variant,,ENST00000482828,;THEMIS2,upstream_gene_variant,,ENST00000492877,;							LOW	240/1932		THMS2_HUMAN			Transcript			.	ENSP00000363031		CCDS41290.1			1	
RBM33	0	LGGM	GRCh37	7	155556540	155556540	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	5	.	.	ENST00000401878.3:c.3014G>A	p.Gly1005Asp	p.G1005D	ENST00000401878	NM_053043.2	1005	gGc/gAc	0	1	1	UPI00015743D7	0	NA	ENST00000401878		ENSG00000184863	27223		37	1.845		HGNC	p.G1005D		RBM33		SNV							ENST00000401878	protein_coding	getma.org/?cm=var&var=hg19,7,155556540,G,A&fts=all		hmmpanther:PTHR22014,hmmpanther:PTHR22014:SF2		G/D		A	low	3212/10149		getma.org/?cm=msa&ty=f&p=RBM33_HUMAN&rb=193&re=1168&var=G1005D	deleterious(0.01)	C9J7M3_HUMAN			YES	RBM33,missense_variant,p.Gly1005Asp,ENST00000401878,NM_053043.2;RBM33,missense_variant,p.Gly778Asp,ENST00000392761,;RBM33,5_prime_UTR_variant,,ENST00000341148,;RBM33,5_prime_UTR_variant,,ENST00000438356,;RBM33,upstream_gene_variant,,ENST00000392755,;							MODERATE	3014/3513	G1005D	RBM33_HUMAN			Transcript		unknown(0)	.	ENSP00000384160		CCDS5941.2			1	
SURF6	0	LGGM	GRCh37	9	136199451	136199451	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	5	.	.	ENST00000372022.4:c.539T>C	p.Val180Ala	p.V180A	ENST00000372022	NM_006753.5	180	gTg/gCg	0	1	1	UPI000013623E	0	NA	ENST00000372022		ENSG00000148296	11478		44	-0.69		HGNC	p.V180A		SURF6		SNV							ENST00000372022	protein_coding	getma.org/?cm=var&var=hg19,9,136199451,A,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR14369:SF0,hmmpanther:PTHR14369,Pfam_domain:PF04935		V/A		G	neutral	805/2505		getma.org/?cm=msa&ty=f&p=SURF6_HUMAN&rb=135&re=351&var=V180A	tolerated(0.91)				YES	SURF6,missense_variant,p.Val180Ala,ENST00000372022,NM_006753.5,NM_001278942.1;SURF6,non_coding_transcript_exon_variant,,ENST00000468290,;							MODERATE	539/1086	V180A	SURF6_HUMAN			Transcript		benign(0.005)	.	ENSP00000361092		CCDS6962.1			1	
RAPSN	0	LGGM	GRCh37	11	47470394	47470394	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	5	.	.	ENST00000298854.2:c.123G>A	p.Gly41=	p.G41=	ENST00000298854	NM_005055.4	41	ggG/ggA	0	1	1	UPI0000071D46	0		ENST00000298854		ENSG00000165917	9863		21			HGNC	p.G41G		RAPSN		SNV			1				ENST00000529341	protein_coding			Gene3D:1.25.40.10,Pfam_domain:PF10579,Prints_domain:PR00217,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF107,Superfamily_domains:SSF48452		G		T		337/1671							YES	RAPSN,synonymous_variant,p.=,ENST00000298854,NM_005055.4;RAPSN,synonymous_variant,p.=,ENST00000352508,NM_032645.4;RAPSN,synonymous_variant,p.=,ENST00000529341,;RAPSN,synonymous_variant,p.=,ENST00000524487,;							LOW	123/1239		RAPSN_HUMAN			Transcript			.	ENSP00000298854		CCDS7936.1			1	
MYBPC1	0	LGGM	GRCh37	12	102069079	102069079	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000452455.2:c.2798G>A	p.Gly933Asp	p.G933D	ENST00000452455	NM_001254718.1	933	gGt/gAt	0	1		UPI000012FBC7	0	getma.org/pdb.php?prot=MYPC1_HUMAN&from=933&to=1016&var=G933D	ENST00000550270		ENSG00000196091	7549		34	1.81		HGNC	p.G903D		MYBPC1		SNV			1				ENST00000541119	protein_coding	getma.org/?cm=var&var=hg19,12,102069079,G,A&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF43,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265,Superfamily_domains:SSF48726		G/D		A	low	2798/3426		getma.org/?cm=msa&ty=f&p=MYPC1_HUMAN&rb=933&re=1016&var=G933D	tolerated(0.15)	F8W1Z9_HUMAN				MYBPC1,missense_variant,p.Gly946Asp,ENST00000549145,;MYBPC1,missense_variant,p.Gly816Asp,ENST00000551300,;MYBPC1,missense_variant,p.Gly933Asp,ENST00000441232,NM_001254719.1;MYBPC1,missense_variant,p.Gly940Asp,ENST00000361466,NM_002465.3;MYBPC1,missense_variant,p.Gly940Asp,ENST00000361685,NM_206819.2;MYBPC1,missense_variant,p.Gly933Asp,ENST00000452455,NM_001254718.1;MYBPC1,missense_variant,p.Gly933Asp,ENST00000360610,NM_206820.2;MYBPC1,missense_variant,p.Gly889Asp,ENST00000547405,NM_001254722.1;MYBPC1,missense_variant,p.Gly915Asp,ENST00000553190,NM_206821.2;MYBPC1,missense_variant,p.Gly901Asp,ENST00000547509,;MYBPC1,missense_variant,p.Gly902Asp,ENST00000392934,NM_001254723.1;MYBPC1,missense_variant,p.Gly915Asp,ENST00000545503,;MYBPC1,missense_variant,p.Gly903Asp,ENST00000541119,NM_001254720.1;MYBPC1,missense_variant,p.Gly896Asp,ENST00000536007,NM_001254721.1;MYBPC1,missense_variant,p.Gly933Asp,ENST00000550270,;MYBPC1,intron_variant,,ENST00000550501,;MYBPC1,downstream_gene_variant,,ENST00000548298,;MYBPC1,downstream_gene_variant,,ENST00000548532,;MYBPC1,non_coding_transcript_exon_variant,,ENST00000549608,;							MODERATE	2798/3426	G933D	MYPC1_HUMAN			Transcript		possibly_damaging(0.775)	.	ENSP00000449702		CCDS9085.1			1	
PODXL	0	LGGM	GRCh37	7	131195672	131195672	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	5	.	.	ENST00000378555.3:c.621C>T	p.Asp207=	p.D207=	ENST00000378555		207	gaC/gaT	0	1	1	UPI000042467C	0		ENST00000378555		ENSG00000128567	9171		37			HGNC	p.D207D		PODXL		SNV							ENST00000446198	protein_coding			PIRSF_domain:PIRSF038143,hmmpanther:PTHR12067		D		A		869/2105							YES	PODXL,synonymous_variant,p.=,ENST00000541194,NM_001018111.2;PODXL,synonymous_variant,p.=,ENST00000537928,;PODXL,synonymous_variant,p.=,ENST00000378555,;PODXL,synonymous_variant,p.=,ENST00000322985,NM_005397.3;PODXL,downstream_gene_variant,,ENST00000465001,;PODXL,synonymous_variant,p.=,ENST00000446198,;PODXL,upstream_gene_variant,,ENST00000487965,;PODXL,upstream_gene_variant,,ENST00000484346,;PODXL,upstream_gene_variant,,ENST00000482581,;PODXL,upstream_gene_variant,,ENST00000490761,;							LOW	621/1677		PODXL_HUMAN			Transcript			.	ENSP00000367817		CCDS34755.1			1	
TBX4	0	LGGM	GRCh37	17	59560605	59560605	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	5	.	.	ENST00000240335.1:c.1366C>T	p.Pro456Ser	p.P456S	ENST00000240335	NM_018488.2	456	Ccc/Tcc	0	1	1	UPI000013CAA9	0	NA	ENST00000240335		ENSG00000121075	11603		31	1.085		HGNC	p.P456S		TBX4		SNV			1				ENST00000240335	protein_coding	getma.org/?cm=var&var=hg19,17,59560605,C,T&fts=all		hmmpanther:PTHR11267,hmmpanther:PTHR11267:SF29		P/S		T	low	1411/2470		getma.org/?cm=msa&ty=f&p=TBX4_HUMAN&rb=298&re=543&var=P456S	tolerated(0.43)	K7EPY2_HUMAN			YES	TBX4,missense_variant,p.Pro457Ser,ENST00000393853,;TBX4,missense_variant,p.Pro456Ser,ENST00000240335,NM_018488.2;TBX4,downstream_gene_variant,,ENST00000589003,;TBX4,non_coding_transcript_exon_variant,,ENST00000589449,;TBX4,downstream_gene_variant,,ENST00000593249,;TBX4,downstream_gene_variant,,ENST00000586874,;TBX4,downstream_gene_variant,,ENST00000590174,;							MODERATE	1366/1638	P456S	TBX4_HUMAN			Transcript		benign(0.406)	.	ENSP00000240335		CCDS11629.1			1	
EHD3	0	LGGM	GRCh37	2	31483470	31483470	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	5	.	.	ENST00000322054.5:c.597G>A	p.Glu199=	p.E199=	ENST00000322054	NM_014600.2	199	gaG/gaA	0	1	1	UPI0000140D07	0		ENST00000322054		ENSG00000013016	3244		27			HGNC	p.E199E		EHD3		SNV							ENST00000322054	protein_coding			PROSITE_profiles:PS51718,hmmpanther:PTHR11216:SF67,hmmpanther:PTHR11216,Pfam_domain:PF00350,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		E		A		882/4636							YES	EHD3,synonymous_variant,p.=,ENST00000322054,NM_014600.2;EHD3,intron_variant,,ENST00000541626,;							LOW	597/1608		EHD3_HUMAN			Transcript			.	ENSP00000327116		CCDS1774.1			1	
KMT2C	0	LGGM	GRCh37	7	151843820	151843820	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	5	.	.	ENST00000262189.6:c.13895G>A	p.Gly4632Asp	p.G4632D	ENST00000262189	NM_170606.2	4632	gGt/gAt	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		35	1.775		HGNC	p.G4632D		KMT2C		SNV							ENST00000262189	protein_coding	getma.org/?cm=var&var=hg19,7,151843820,C,T&fts=all		PROSITE_profiles:PS51543,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305,Pfam_domain:PF05965,SMART_domains:SM00542		G/D		T	low	14114/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=4606&re=4693&var=G4632D		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Gly4689Asp,ENST00000355193,;KMT2C,missense_variant,p.Gly4632Asp,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Gly2193Asp,ENST00000360104,;KMT2C,missense_variant,p.Gly1249Asp,ENST00000424877,;KMT2C,upstream_gene_variant,,ENST00000485655,;KMT2C,splice_region_variant,,ENST00000558084,;KMT2C,splice_region_variant,,ENST00000473186,;							MODERATE	13895/14736	G4632D	KMT2C_HUMAN			Transcript		benign(0.436)	.	ENSP00000262189		CCDS5931.1			1	
ATG14	0	LGGM	GRCh37	14	55836500	55836500	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000247178.5:c.1316C>A	p.Pro439His	p.P439H	ENST00000247178	NM_014924.4	439	cCt/cAt	0	1	1	UPI00001FD5B2	0	NA	ENST00000247178		ENSG00000126775	19962		26	1.79		HGNC	p.P439H		ATG14		SNV							ENST00000247178	protein_coding	getma.org/?cm=var&var=hg19,14,55836500,G,T&fts=all		hmmpanther:PTHR13664,hmmpanther:PTHR13664:SF0		P/H		T	low	1352/4742		getma.org/?cm=msa&ty=f&p=BAKOR_HUMAN&rb=390&re=492&var=P439H	deleterious(0)				YES	ATG14,missense_variant,p.Pro439His,ENST00000247178,NM_014924.4;ATG14,non_coding_transcript_exon_variant,,ENST00000558189,;							MODERATE	1316/1479	P439H	BAKOR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000247178		CCDS32087.1			1	
TPSG1	0	LGGM	GRCh37	16	1271834	1271834	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	5	.	.	ENST00000234798.4:c.920T>A	p.Leu307Gln	p.L307Q	ENST00000234798	NM_012467.3	307	cTg/cAg	0	1	1	UPI000013C9BB	0	NA	ENST00000234798		ENSG00000116176	14134		14	0.55		HGNC	p.L307Q		TPSG1		SNV							ENST00000234798	protein_coding	getma.org/?cm=var&var=hg19,16,1271834,A,T&fts=all		Low_complexity_(Seg):seg		L/Q		T	neutral	925/1108		getma.org/?cm=msa&ty=f&p=TRYG1_HUMAN&rb=266&re=321&var=L307Q	tolerated_low_confidence(0.13)				YES	TPSG1,missense_variant,p.Leu307Gln,ENST00000234798,NM_012467.3;CACNA1H,downstream_gene_variant,,ENST00000348261,NM_021098.2;CACNA1H,downstream_gene_variant,,ENST00000358590,NM_001005407.1;CACNA1H,downstream_gene_variant,,ENST00000565831,;CACNA1H,downstream_gene_variant,,ENST00000564927,;CACNA1H,downstream_gene_variant,,ENST00000569107,;CACNA1H,downstream_gene_variant,,ENST00000564231,;CACNA1H,downstream_gene_variant,,ENST00000562079,;TPSG1,downstream_gene_variant,,ENST00000564684,;							MODERATE	920/966	L307Q	TRYG1_HUMAN			Transcript		possibly_damaging(0.883)	.	ENSP00000234798		CCDS10430.1			1	
GBA2	0	LGGM	GRCh37	9	35738044	35738044	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	5	.	.	ENST00000378103.3:c.2303G>A	p.Gly768Glu	p.G768E	ENST00000378103	NM_020944.2	768	gGa/gAa	0	1	1	UPI0000073FD5	0	NA	ENST00000378103		ENSG00000070610	18986		19	1.5		HGNC	p.G774E	rs772024917	GBA2		SNV			1				ENST00000545786	protein_coding	getma.org/?cm=var&var=hg19,9,35738044,C,T&fts=all		Superfamily_domains:SSF48208,PIRSF_domain:PIRSF028944,Pfam_domain:PF04685,hmmpanther:PTHR12654:SF0,hmmpanther:PTHR12654		G/E		T	low	2827/3611	1.82E-05	getma.org/?cm=msa&ty=f&p=GBA2_HUMAN&rb=521&re=888&var=G768E	tolerated(0.22)				YES	GBA2,missense_variant,p.Gly768Glu,ENST00000378094,;GBA2,missense_variant,p.Gly768Glu,ENST00000378103,NM_020944.2;GBA2,missense_variant,p.Gly774Glu,ENST00000545786,;GBA2,missense_variant,p.Gly69Glu,ENST00000378088,;CREB3,downstream_gene_variant,,ENST00000353704,NM_006368.4;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,;CREB3,downstream_gene_variant,,ENST00000486056,;GBA2,downstream_gene_variant,,ENST00000486797,;GBA2,downstream_gene_variant,,ENST00000485259,;GBA2,downstream_gene_variant,,ENST00000488292,;							MODERATE	2303/2784	G768E	GBA2_HUMAN			Transcript		benign(0.085)	.	ENSP00000367343	8.24E-06	CCDS6589.1			1	
LRRC8C	0	LGGM	GRCh37	1	90152075	90152075	+	missense_variant,NMD_transcript_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	5	.	.	ENST00000370453.5:c.43C>T	p.Pro15Ser	p.P15S	ENST00000370453		15	Cct/Tct	0	1	1	UPI000013E814	0	NA	ENST00000370454		ENSG00000171488	25075		33	0.715		HGNC	p.P15S		LRRC8C		SNV							ENST00000370453	protein_coding	getma.org/?cm=var&var=hg19,1,90152075,C,T&fts=all		Pfam_domain:PF12534		P/S		T	neutral	298/7218		getma.org/?cm=msa&ty=f&p=LRC8C_HUMAN&rb=1&re=65&var=P15S	tolerated(0.26)				YES	LRRC8C,missense_variant,p.Pro15Ser,ENST00000370454,NM_032270.4;LRRC8C,non_coding_transcript_exon_variant,,ENST00000479252,;RP11-302M6.4,missense_variant,p.Pro15Ser,ENST00000370453,;LRRC8C,missense_variant,p.Pro15Ser,ENST00000482063,;							MODERATE	43/2412	P15S	LRC8C_HUMAN			Transcript		possibly_damaging(0.763)	.	ENSP00000359483		CCDS725.1			1	
NAV2	0	LGGM	GRCh37	11	20136191	20136191	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	5	.	.	ENST00000396087.3:c.7191A>T	p.Thr2397=	p.T2397=	ENST00000396087	NM_001244963.1	2397	acA/acT	0	1	1	UPI00001E0580	0		ENST00000396087		ENSG00000166833	15997		19			HGNC	p.T2326T		NAV2		SNV							ENST00000527559	protein_coding			hmmpanther:PTHR12784:SF6,hmmpanther:PTHR12784		T		T		7290/7882							YES	NAV2,synonymous_variant,p.=,ENST00000396085,NM_182964.5;NAV2,synonymous_variant,p.=,ENST00000349880,NM_145117.4;NAV2,synonymous_variant,p.=,ENST00000360655,NM_001111018.1;NAV2,synonymous_variant,p.=,ENST00000540292,;NAV2,synonymous_variant,p.=,ENST00000527559,;NAV2,synonymous_variant,p.=,ENST00000396087,NM_001244963.1;NAV2,synonymous_variant,p.=,ENST00000311043,;NAV2,synonymous_variant,p.=,ENST00000533917,NM_001111019.2;NAV2,non_coding_transcript_exon_variant,,ENST00000533746,;NAV2,non_coding_transcript_exon_variant,,ENST00000525025,;NAV2,non_coding_transcript_exon_variant,,ENST00000528923,;							LOW	7191/7467		NAV2_HUMAN			Transcript			.	ENSP00000379396		CCDS58126.1			1	
KEAP1	0	LGGM	GRCh37	19	10602800	10602800	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	5	.	.	ENST00000171111.5:c.778C>T	p.Arg260Ter	p.R260*	ENST00000171111	NM_203500.1	260	Cga/Tga	0	1	1	UPI000007139C	0	NA	ENST00000171111		ENSG00000079999	23177		24	0		HGNC	p.R260X	COSM96324	KEAP1		SNV						1	ENST00000592055	protein_coding	getma.org/?cm=var&var=hg19,19,10602800,G,A&fts=all		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF07707,SMART_domains:SM00875,PIRSF_domain:PIRSF037037		R/*		A	NA	1326/2955		NA		K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,stop_gained,p.Arg260Ter,ENST00000171111,NM_203500.1;KEAP1,stop_gained,p.Arg260Ter,ENST00000393623,NM_012289.3;KEAP1,stop_gained,p.Arg260Ter,ENST00000592055,;KEAP1,upstream_gene_variant,,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;CTC-429L19.3,upstream_gene_variant,,ENST00000592671,;KEAP1,non_coding_transcript_exon_variant,,ENST00000588024,;KEAP1,3_prime_UTR_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590593,;KEAP1,upstream_gene_variant,,ENST00000590237,;					1		HIGH	778/1875	R260*	KEAP1_HUMAN			Transcript			.	ENSP00000171111		CCDS12239.1			1	
TADA2B	0	LGGM	GRCh37	4	7056450	7056450	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	5	.	.	ENST00000310074.7:c.932C>T	p.Ala311Val	p.A311V	ENST00000310074	NM_152293.2	311	gCg/gTg	0	1	1	UPI00001996F4	0	NA	ENST00000310074		ENSG00000173011	30781		79	0.805		HGNC	p.A311V	rs764337259	TADA2B		SNV							ENST00000310074	protein_coding	getma.org/?cm=var&var=hg19,4,7056450,C,T&fts=all		PIRSF_domain:PIRSF025024,hmmpanther:PTHR12374,Low_complexity_(Seg):seg		A/V		T	low	1121/4350		getma.org/?cm=msa&ty=f&p=TAD2B_HUMAN&rb=114&re=313&var=A311V	deleterious(0.02)	D6RJ05_HUMAN,D6RC20_HUMAN			YES	TADA2B,missense_variant,p.Ala311Val,ENST00000310074,NM_152293.2;TADA2B,missense_variant,p.Ala219Val,ENST00000515646,;TADA2B,missense_variant,p.Ala236Val,ENST00000512388,;GRPEL1,downstream_gene_variant,,ENST00000264954,NM_025196.2;TADA2B,downstream_gene_variant,,ENST00000506692,;TADA2B,downstream_gene_variant,,ENST00000510704,;							MODERATE	932/1263	A311V	TAD2B_HUMAN	0.000151		Transcript		possibly_damaging(0.647)	.	ENSP00000308022	8.27E-06	CCDS47007.1			1	
ADNP	0	LGGM	GRCh37	20	49509951	49509951	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	5	.	.	ENST00000396029.3:c.1300G>T	p.Gly434Cys	p.G434C	ENST00000396029	NM_015339.2	434	Ggc/Tgc	0	1		UPI00000375B9	0	NA	ENST00000349014		ENSG00000101126	15766		78	0.345		HGNC	p.G434C		ADNP		SNV			1				ENST00000349014	protein_coding	getma.org/?cm=var&var=hg19,20,49509951,C,A&fts=all		hmmpanther:PTHR15740,hmmpanther:PTHR15740:SF1,Low_complexity_(Seg):seg		G/C		A	neutral	1597/5963		getma.org/?cm=msa&ty=f&p=ADNP_HUMAN&rb=401&re=600&var=G434C	deleterious(0.02)	E9PQK8_HUMAN				ADNP,missense_variant,p.Gly434Cys,ENST00000396029,NM_015339.2,NM_001282531.1;ADNP,missense_variant,p.Gly434Cys,ENST00000371602,;ADNP,missense_variant,p.Gly434Cys,ENST00000349014,NM_001282532.1;ADNP,missense_variant,p.Gly434Cys,ENST00000396032,NM_181442.1;ADNP,downstream_gene_variant,,ENST00000534467,;							MODERATE	1300/3309	G434C	ADNP_HUMAN			Transcript		benign(0.025)	.	ENSP00000342905		CCDS13433.1			1	
RIOK3	0	LGGM	GRCh37	18	21061222	21061222	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	5	.	.	ENST00000339486.3:c.1539A>T	p.Pro513=	p.P513=	ENST00000339486	NM_003831.3	513	ccA/ccT	0	1	1	UPI000013C732	0		ENST00000339486		ENSG00000101782	11451		29			HGNC	p.P497P		RIOK3		SNV							ENST00000581585	protein_coding			PIRSF_domain:PIRSF038146		P		T		2156/4038				B0YJ89_HUMAN			YES	RIOK3,synonymous_variant,p.=,ENST00000339486,NM_003831.3;RIOK3,synonymous_variant,p.=,ENST00000581585,;RIOK3,synonymous_variant,p.=,ENST00000577501,;RIOK3,intron_variant,,ENST00000577250,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581302,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581220,;RIOK3,non_coding_transcript_exon_variant,,ENST00000581339,;RIOK3,downstream_gene_variant,,ENST00000584130,;							LOW	1539/1560		RIOK3_HUMAN			Transcript			.	ENSP00000341874		CCDS11877.1			1	
TMEM209	0	LGGM	GRCh37	7	129841927	129841927	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	5	.	.	ENST00000397622.2:c.336A>T	p.Val112=	p.V112=	ENST00000397622	NM_032842.3	112	gtA/gtT	0	1	1	UPI000020FAA2	0		ENST00000397622		ENSG00000146842	21898		29			HGNC	p.V112V		TMEM209		SNV							ENST00000397622	protein_coding			Pfam_domain:PF09786,hmmpanther:PTHR21780,hmmpanther:PTHR21780:SF0		V		A		459/3545				C9J5K4_HUMAN			YES	TMEM209,synonymous_variant,p.=,ENST00000397622,NM_032842.3;TMEM209,synonymous_variant,p.=,ENST00000462753,;TMEM209,synonymous_variant,p.=,ENST00000336804,;TMEM209,synonymous_variant,p.=,ENST00000473456,;TMEM209,synonymous_variant,p.=,ENST00000471985,;TMEM209,downstream_gene_variant,,ENST00000471077,;RP11-775D22.3,intron_variant,,ENST00000483283,;							LOW	336/1686		TM209_HUMAN			Transcript			.	ENSP00000380747		CCDS47712.1			1	
EXOC6B	0	LGGM	GRCh37	2	72725661	72725661	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	5	.	.	ENST00000272427.6:c.1259A>G	p.Asn420Ser	p.N420S	ENST00000272427	NM_015189.1	420	aAt/aGt	0	1	1	UPI000046995C	0	getma.org/pdb.php?prot=EXC6B_HUMAN&from=401&to=463&var=N420S	ENST00000272427		ENSG00000144036	17085		67	0.44		HGNC	p.N420S		EXOC6B		SNV							ENST00000272427	protein_coding	getma.org/?cm=var&var=hg19,2,72725661,T,C&fts=all		PIRSF_domain:PIRSF025007,hmmpanther:PTHR12702,hmmpanther:PTHR12702:SF3		N/S		C	neutral	1390/5918		getma.org/?cm=msa&ty=f&p=EXC6B_HUMAN&rb=401&re=463&var=N420S	tolerated(0.54)	Q9H8D6_HUMAN			YES	EXOC6B,missense_variant,p.Asn420Ser,ENST00000272427,NM_015189.1;EXOC6B,missense_variant,p.Asn420Ser,ENST00000410104,;EXOC6B,downstream_gene_variant,,ENST00000485398,;EXOC6B,upstream_gene_variant,,ENST00000464347,;EXOC6B,3_prime_UTR_variant,,ENST00000410112,;							MODERATE	1259/2436	N420S	EXC6B_HUMAN			Transcript		benign(0.001)	.	ENSP00000272427		CCDS46333.1			1	
SNTB1	0	LGGM	GRCh37	8	121823650	121823650	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	5	.	.	ENST00000395601.3:c.434G>A	p.Gly145Glu	p.G145E	ENST00000395601	NM_021021.3	145	gGg/gAg	0	1	1	UPI0000135B20	0	getma.org/pdb.php?prot=SNTB1_HUMAN&from=113&to=192&var=G145E	ENST00000395601		ENSG00000172164	11168		42	2.41		HGNC	p.G145E	rs768476666	SNTB1		SNV							ENST00000395601	protein_coding	getma.org/?cm=var&var=hg19,8,121823650,C,T&fts=all		PROSITE_profiles:PS50003,PROSITE_profiles:PS50106,hmmpanther:PTHR10554,hmmpanther:PTHR10554:SF11,Gene3D:2.30.42.10,Pfam_domain:PF00595,SMART_domains:SM00233,SMART_domains:SM00228,Superfamily_domains:SSF50156		G/E		T	medium	849/5164	1.51E-05	getma.org/?cm=msa&ty=f&p=SNTB1_HUMAN&rb=113&re=192&var=G145E	deleterious(0)	E5RIX7_HUMAN			YES	SNTB1,missense_variant,p.Gly145Glu,ENST00000395601,NM_021021.3;SNTB1,missense_variant,p.Gly145Glu,ENST00000517992,;SNTB1,downstream_gene_variant,,ENST00000520717,;RP11-713M15.2,upstream_gene_variant,,ENST00000605955,;SNTB1,non_coding_transcript_exon_variant,,ENST00000519177,;							MODERATE	434/1617	G145E	SNTB1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000378965	8.24E-06	CCDS6334.1			1	
ACAP2	0	LGGM	GRCh37	3	195000107	195000107	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	5	.	.	ENST00000326793.6:c.2287A>T	p.Asn763Tyr	p.N763Y	ENST00000326793	NM_012287.5	763	Aat/Tat	0	1	1	UPI0000141A1A	0	NA	ENST00000326793		ENSG00000114331	16469		42	2.045		HGNC	p.N763Y		ACAP2		SNV							ENST00000326793	protein_coding	getma.org/?cm=var&var=hg19,3,195000107,T,A&fts=all		hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241		N/Y		A	medium	2518/7160		getma.org/?cm=msa&ty=f&p=ACAP2_HUMAN&rb=706&re=778&var=N763Y	deleterious(0)	C9J8L1_HUMAN			YES	ACAP2,missense_variant,p.Asn763Tyr,ENST00000326793,NM_012287.5;ACAP2-IT1,downstream_gene_variant,,ENST00000419899,;ACAP2,non_coding_transcript_exon_variant,,ENST00000472860,;							MODERATE	2287/2337	N763Y	ACAP2_HUMAN			Transcript		benign(0.23)	.	ENSP00000324287		CCDS33924.1			1	
SLIT2	0	LGGM	GRCh37	4	20598215	20598215	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	5	.	.	ENST00000504154.1:c.3498C>T	p.Asn1166=	p.N1166=	ENST00000504154	NM_004787.1	1166	aaC/aaT	0	1	1	UPI00000747E4	0		ENST00000504154		ENSG00000145147	11086		35			HGNC	p.N1158N		SLIT2		SNV							ENST00000503823	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Gene3D:2.60.120.200,Superfamily_domains:SSF49899		N		T		3750/6390				Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	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,,ENST00000512993,;							LOW	3498/4590		SLIT2_HUMAN			Transcript			.	ENSP00000422591		CCDS3426.1			1	
WBP11	0	LGGM	GRCh37	12	14943482	14943482	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	5	.	.	ENST00000261167.2:c.1217C>T	p.Pro406Leu	p.P406L	ENST00000261167	NM_016312.2	406	cCc/cTc	0	1	1	UPI0000035FC2	0	NA	ENST00000261167		ENSG00000084463	16461		37	1.7		HGNC	p.P406L		WBP11		SNV							ENST00000261167	protein_coding	getma.org/?cm=var&var=hg19,12,14943482,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13361:SF1,hmmpanther:PTHR13361		P/L		A	low	1451/2749		getma.org/?cm=msa&ty=f&p=WBP11_HUMAN&rb=295&re=494&var=P406L	deleterious_low_confidence(0.01)	F5GXS9_HUMAN,B4DMD3_HUMAN			YES	WBP11,missense_variant,p.Pro406Leu,ENST00000261167,NM_016312.2;WBP11,downstream_gene_variant,,ENST00000535638,;							MODERATE	1217/1926	P406L	WBP11_HUMAN			Transcript		unknown(0)	.	ENSP00000261167		CCDS8666.1			1	
PDE3B	0	LGGM	GRCh37	11	14839836	14839836	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	5	.	.	ENST00000282096.4:c.1630C>T	p.Leu544Phe	p.L544F	ENST00000282096	NM_000922.3	544	Ctt/Ttt	0	1	1	UPI000013DCB7	0	NA	ENST00000282096		ENSG00000152270	8779		36	2.095		HGNC	p.L544F		PDE3B		SNV							ENST00000282096	protein_coding	getma.org/?cm=var&var=hg19,11,14839836,C,T&fts=all		hmmpanther:PTHR11347:SF29,hmmpanther:PTHR11347		L/F		T	medium	1983/4836		getma.org/?cm=msa&ty=f&p=PDE3B_HUMAN&rb=233&re=657&var=L544F	tolerated(0.09)				YES	PDE3B,missense_variant,p.Leu544Phe,ENST00000282096,NM_000922.3;PDE3B,missense_variant,p.Leu493Phe,ENST00000455098,;PDE3B,non_coding_transcript_exon_variant,,ENST00000525439,;							MODERATE	1630/3339	L544F	PDE3B_HUMAN			Transcript		benign(0.12)	.	ENSP00000282096		CCDS7817.1			1	
CYTH3	0	LGGM	GRCh37	7	6210181	6210181	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	5	.	.	ENST00000350796.3:c.808T>C	p.Trp270Arg	p.W270R	ENST00000350796	NM_004227.3	270	Tgg/Cgg	0	1		UPI0001914C30	0	getma.org/pdb.php?prot=CYH3_HUMAN&from=265&to=381&var=W270R	ENST00000396741		ENSG00000008256	9504		26	4.01		HGNC	p.W185R		CYTH3		SNV							ENST00000396741	protein_coding	getma.org/?cm=var&var=hg19,7,6210181,A,G&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,Pfam_domain:PF00169,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF129,PROSITE_profiles:PS50003		W/R		G	high	704/1171		getma.org/?cm=msa&ty=f&p=CYH3_HUMAN&rb=265&re=381&var=W270R	deleterious(0)	Q96HS5_HUMAN,B7Z2V9_HUMAN				CYTH3,missense_variant,p.Trp270Arg,ENST00000350796,NM_004227.3;CYTH3,missense_variant,p.Trp185Arg,ENST00000396741,;Y_RNA,downstream_gene_variant,,ENST00000458975,;CYTH3,non_coding_transcript_exon_variant,,ENST00000488964,;CYTH3,non_coding_transcript_exon_variant,,ENST00000461891,;CYTH3,downstream_gene_variant,,ENST00000491641,;CYTH3,upstream_gene_variant,,ENST00000465320,;CYTH3,non_coding_transcript_exon_variant,,ENST00000495176,;CYTH3,downstream_gene_variant,,ENST00000466543,;CYTH3,downstream_gene_variant,,ENST00000481329,;CYTH3,downstream_gene_variant,,ENST00000478541,;							MODERATE	553/945	W270R				Transcript		possibly_damaging(0.864)	.	ENSP00000379967					1	
CEBPZ	0	LGGM	GRCh37	2	37455274	37455274	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	5	.	.	ENST00000234170.5:c.1062T>A	p.Ser354Arg	p.S354R	ENST00000234170	NM_005760.2	354	agT/agA	0	1	1	UPI0000072AAB	0	NA	ENST00000234170		ENSG00000115816	24218		54	2.845		HGNC	p.S354R		CEBPZ		SNV							ENST00000234170	protein_coding	getma.org/?cm=var&var=hg19,2,37455274,A,T&fts=all		hmmpanther:PTHR12048,Superfamily_domains:SSF48371		S/R		T	medium	1208/3463		getma.org/?cm=msa&ty=f&p=CEBPZ_HUMAN&rb=310&re=509&var=S354R	deleterious(0)				YES	CEBPZ,missense_variant,p.Ser354Arg,ENST00000234170,NM_005760.2;NDUFAF7,upstream_gene_variant,,ENST00000002125,NM_144736.4;NDUFAF7,upstream_gene_variant,,ENST00000336237,NM_001083946.1;NDUFAF7,upstream_gene_variant,,ENST00000439218,;NDUFAF7,upstream_gene_variant,,ENST00000431821,;NDUFAF7,upstream_gene_variant,,ENST00000432075,;CEBPZ,downstream_gene_variant,,ENST00000446769,;NDUFAF7,upstream_gene_variant,,ENST00000416653,;NDUFAF7,upstream_gene_variant,,ENST00000483999,;NDUFAF7,upstream_gene_variant,,ENST00000474154,;NDUFAF7,upstream_gene_variant,,ENST00000455230,;NDUFAF7,upstream_gene_variant,,ENST00000469831,;							MODERATE	1062/3165	S354R	CEBPZ_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000234170		CCDS1787.1			1	
AHCTF1	0	LGGM	GRCh37	1	247024474	247024474	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	5	.	.	ENST00000326225.3:c.3886G>A	p.Glu1296Lys	p.E1296K	ENST00000326225	NM_015446.4	1296	Gag/Aag	0	1	1	UPI0000204034	0	NA	ENST00000326225		ENSG00000153207	24618		34	0.345		HGNC	p.E1296K		AHCTF1		SNV							ENST00000326225	protein_coding	getma.org/?cm=var&var=hg19,1,247024474,C,T&fts=all		hmmpanther:PTHR21583		E/K		T	neutral	3983/8633		getma.org/?cm=msa&ty=f&p=ELYS_HUMAN&rb=1052&re=2264&var=E1287K	tolerated(0.1)	C9J5C5_HUMAN			YES	AHCTF1,missense_variant,p.Glu1322Lys,ENST00000366508,;AHCTF1,missense_variant,p.Glu1296Lys,ENST00000326225,NM_015446.4;AHCTF1,missense_variant,p.Glu1287Lys,ENST00000391829,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000470300,;AHCTF1,non_coding_transcript_exon_variant,,ENST00000483900,;AHCTF1,downstream_gene_variant,,ENST00000477526,;							MODERATE	3886/6828	E1287K	ELYS_HUMAN			Transcript		benign(0.007)	.	ENSP00000355465		CCDS1629.2			1	
SH3BP5	0	LGGM	GRCh37	3	15300445	15300445	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	5	.	.	ENST00000383791.3:c.782G>A	p.Arg261Gln	p.R261Q	ENST00000383791	NM_004844.4	261	cGg/cAg	0	1	1	UPI00004C3DB7	0	NA	ENST00000383791		ENSG00000131370	10827		24	2.845		HGNC	p.R261Q		SH3BP5		SNV							ENST00000383791	protein_coding	getma.org/?cm=var&var=hg19,3,15300445,C,T&fts=all		hmmpanther:PTHR19423,hmmpanther:PTHR19423:SF3,Pfam_domain:PF05276		R/Q		T	medium	1003/2822		getma.org/?cm=msa&ty=f&p=3BP5_HUMAN&rb=37&re=273&var=R261Q	deleterious(0.02)	Q6MZG3_HUMAN,C9JNW0_HUMAN,C9JK30_HUMAN,B2R7Y8_HUMAN			YES	SH3BP5,missense_variant,p.Arg261Gln,ENST00000383791,NM_004844.4;SH3BP5,missense_variant,p.Arg104Gln,ENST00000426925,;SH3BP5,missense_variant,p.Arg104Gln,ENST00000253688,;SH3BP5,missense_variant,p.Arg104Gln,ENST00000408919,NM_001018009.3;SH3BP5,missense_variant,p.Arg104Gln,ENST00000366391,;SH3BP5,downstream_gene_variant,,ENST00000417936,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000420195,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000436602,;SH3BP5-AS1,non_coding_transcript_exon_variant,,ENST00000413977,;SH3BP5,intron_variant,,ENST00000412806,;SH3BP5,downstream_gene_variant,,ENST00000450625,;							MODERATE	782/1368	R261Q	3BP5_HUMAN			Transcript		possibly_damaging(0.532)	.	ENSP00000373301		CCDS2625.2			1	
PGPEP1L	0	LGGM	GRCh37	15	99511874	99511874	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	5	.	.	ENST00000378919.6:c.424G>A	p.Ala142Thr	p.A142T	ENST00000378919	NM_001102612.2	142	Gcg/Acg	0	1	1	UPI00006C1572	0	getma.org/pdb.php?prot=PGPIL_HUMAN&from=5&to=155&var=A142T	ENST00000378919		ENSG00000183571	27080		52	1.295		HGNC	p.A88T	rs372911670,COSM966821	PGPEP1L	0.000199	SNV	T:0.0003			0.000192		0,1	ENST00000535714	protein_coding	getma.org/?cm=var&var=hg19,15,99511874,C,T&fts=all		hmmpanther:PTHR23402:SF14,hmmpanther:PTHR23402,Pfam_domain:PF01470,Gene3D:3.40.630.20,Superfamily_domains:SSF53182		A/T	T:0	T	low	630/995		getma.org/?cm=msa&ty=f&p=PGPIL_HUMAN&rb=5&re=155&var=A142T	deleterious(0.05)	H0YF86_HUMAN			YES	PGPEP1L,missense_variant,p.Ala88Thr,ENST00000535714,NM_001167902.1;PGPEP1L,missense_variant,p.Ala142Thr,ENST00000378919,NM_001102612.2;IGF1R,downstream_gene_variant,,ENST00000268035,NM_000875.3;IGF1R,downstream_gene_variant,,ENST00000558762,;RP11-654A16.3,intron_variant,,ENST00000559468,;	0.000276				0,1		MODERATE	424/591	A142T	PGPIL_HUMAN			Transcript		possibly_damaging(0.647)	.	ENSP00000368199	3.31E-05	CCDS53977.1			1	
NECAP1	0	LGGM	GRCh37	12	8248286	8248286	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	5	.	.	ENST00000339754.5:c.766A>G	p.Ser256Gly	p.S256G	ENST00000339754	NM_015509.3	256	Agc/Ggc	0	1	1	UPI000006EB8D	0	NA	ENST00000339754		ENSG00000089818	24539		41	2.05		HGNC	p.S114G		NECAP1		SNV			1				ENST00000540083	protein_coding	getma.org/?cm=var&var=hg19,12,8248286,A,G&fts=all		hmmpanther:PTHR12847,hmmpanther:PTHR12847:SF1		S/G		G	medium	844/2587		getma.org/?cm=msa&ty=f&p=NECP1_HUMAN&rb=166&re=275&var=S256G	deleterious(0.01)	F5H2U7_HUMAN,A8K3C2_HUMAN			YES	NECAP1,missense_variant,p.Ser256Gly,ENST00000339754,NM_015509.3;NECAP1,missense_variant,p.Ser114Gly,ENST00000540083,;NECAP1,3_prime_UTR_variant,,ENST00000450991,;NECAP1,3_prime_UTR_variant,,ENST00000541948,;NECAP1,non_coding_transcript_exon_variant,,ENST00000537796,;NECAP1,downstream_gene_variant,,ENST00000545807,;NECAP1,downstream_gene_variant,,ENST00000542095,;							MODERATE	766/828	S256G	NECP1_HUMAN			Transcript		benign(0.071)	.	ENSP00000341737		CCDS8589.1			1	
RIPPLY3	0	LGGM	GRCh37	21	38390172	38390172	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	6	.	.	ENST00000329553.2:c.240-2A>T		p.X80_splice	ENST00000329553	NM_018962.2			0	1	1	UPI000012990F	0		ENST00000329553		ENSG00000183145	3047		15			HGNC	-		RIPPLY3		SNV							ENST00000329553	protein_coding							T		-/2235							YES	RIPPLY3,splice_acceptor_variant,,ENST00000329553,NM_018962.2;RIPPLY3,splice_acceptor_variant,,ENST00000485272,;RIPPLY3,splice_acceptor_variant,,ENST00000490393,;							HIGH	240/573		DSCR6_HUMAN			Transcript			.	ENSP00000331734		CCDS13648.1			1	
MPL	0	LGGM	GRCh37	1	43806186	43806186	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	6	.	.	ENST00000372470.3:c.980+2T>C		p.X327_splice	ENST00000372470	NM_005373.2			0	1	1	UPI000002DB88	0		ENST00000372470		ENSG00000117400	7217		58			HGNC	-		MPL		SNV			1				ENST00000372470	protein_coding							C		-/1950							YES	MPL,splice_donor_variant,,ENST00000372470,NM_005373.2;MPL,splice_donor_variant,,ENST00000413998,;							HIGH	980/1908		TPOR_HUMAN			Transcript			.	ENSP00000361548		CCDS483.1			1	
LRP6	0	LGGM	GRCh37	12	12337046	12337046	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	6	.	.	ENST00000261349.4:c.845-1G>T		p.X282_splice	ENST00000261349	NM_002336.2			0	1	1	UPI00001FB66C	0		ENST00000261349		ENSG00000070018	6698		72			HGNC	-		LRP6		SNV			1				ENST00000261349	protein_coding							A		-/10020				F5H0Z3_HUMAN,B3KQA9_HUMAN			YES	LRP6,splice_acceptor_variant,,ENST00000261349,NM_002336.2;LRP6,splice_acceptor_variant,,ENST00000543091,;LRP6,downstream_gene_variant,,ENST00000535731,;LRP6,splice_acceptor_variant,,ENST00000538239,;BCL2L14,intron_variant,,ENST00000298566,;LRP6,downstream_gene_variant,,ENST00000545658,;							HIGH	845/4842		LRP6_HUMAN			Transcript			.	ENSP00000261349		CCDS8647.1			1	
MXRA5	0	LGGM	GRCh37	X	3229666	3229666	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	6	.	.	ENST00000217939.6:c.6579-1G>A		p.X2193_splice	ENST00000217939	NM_015419.3			0	1	1	UPI000013C73B	0		ENST00000217939		ENSG00000101825	7539		23			HGNC	-		MXRA5		SNV							ENST00000381114	protein_coding							T		-/9793							YES	MXRA5,splice_acceptor_variant,,ENST00000217939,NM_015419.3;							HIGH	6579/8487		MXRA5_HUMAN			Transcript			.	ENSP00000217939		CCDS14124.1			1	
GPRC5A	0	LGGM	GRCh37	12	13061176	13061176	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	6	.	.	ENST00000014914.5:c.-7-1G>A		p.X3_splice	ENST00000014914	NM_003979.3			0	1	1	UPI00000373F7	0		ENST00000014914		ENSG00000013588	9836		17			HGNC	-		GPRC5A		SNV							-	protein_coding							A		-/7362				F5GWG3_HUMAN			YES	GPRC5A,splice_acceptor_variant,,ENST00000014914,NM_003979.3;GPRC5A,splice_acceptor_variant,,ENST00000534831,;GPRC5A,upstream_gene_variant,,ENST00000540125,;GPRC5A,intron_variant,,ENST00000542056,;GPRC5A,splice_acceptor_variant,,ENST00000537783,;							HIGH	-/1074		RAI3_HUMAN			Transcript			.	ENSP00000014914		CCDS8657.1			1	
ZNF532	0	LGGM	GRCh37	18	56587263	56587263	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	6	.	.	ENST00000336078.4:c.1744G>A	p.Glu582Lys	p.E582K	ENST00000336078	NM_018181.4	582	Gaa/Aaa	0	1	1	UPI000013D30C	0	NA	ENST00000336078		ENSG00000074657	30940		21	2.275		HGNC	p.E582K		ZNF532		SNV							ENST00000336078	protein_coding	getma.org/?cm=var&var=hg19,18,56587263,G,A&fts=all		hmmpanther:PTHR26374:SF163,hmmpanther:PTHR26374		E/K		A	medium	2520/6696		getma.org/?cm=msa&ty=f&p=ZN532_HUMAN&rb=401&re=600&var=E582K	deleterious(0)	K7ER18_HUMAN,K7EQW7_HUMAN,K7EPI7_HUMAN,K7EP49_HUMAN,K7EMF9_HUMAN,K7ELB7_HUMAN,K7EL14_HUMAN,K7EKV7_HUMAN,K7EJM2_HUMAN,B4DQV3_HUMAN			YES	ZNF532,missense_variant,p.Glu582Lys,ENST00000336078,NM_018181.4;ZNF532,missense_variant,p.Glu582Lys,ENST00000589288,;ZNF532,missense_variant,p.Glu582Lys,ENST00000591083,;ZNF532,missense_variant,p.Glu582Lys,ENST00000591808,;ZNF532,missense_variant,p.Glu582Lys,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,;							MODERATE	1744/3906	E582K	ZN532_HUMAN			Transcript		possibly_damaging(0.887)	.	ENSP00000338217		CCDS11969.1			1	
ASB16	0	LGGM	GRCh37	17	42249480	42249480	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	6	.	.	ENST00000293414.1:c.368A>G	p.Tyr123Cys	p.Y123C	ENST00000293414	NM_080863.4	123	tAc/tGc	0	1	1	UPI000013E105	0	getma.org/pdb.php?prot=ASB16_HUMAN&from=115&to=206&var=Y123C	ENST00000293414		ENSG00000161664	19768		17	0.895		HGNC	p.Y39C		ASB16		SNV							ENST00000591700	protein_coding	getma.org/?cm=var&var=hg19,17,42249480,A,G&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF00023,PROSITE_profiles:PS50297,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF2,SMART_domains:SM00248,Superfamily_domains:SSF48403		Y/C		G	low	452/2139		getma.org/?cm=msa&ty=f&p=ASB16_HUMAN&rb=115&re=206&var=Y123C	deleterious(0)	K7EM41_HUMAN			YES	ASB16,missense_variant,p.Tyr123Cys,ENST00000293414,NM_080863.4;ASB16,missense_variant,p.Tyr39Cys,ENST00000591700,;ASB16-AS1,downstream_gene_variant,,ENST00000585457,;ASB16-AS1,downstream_gene_variant,,ENST00000591166,;ASB16-AS1,downstream_gene_variant,,ENST00000588785,;ASB16,missense_variant,p.Tyr123Cys,ENST00000589618,;							MODERATE	368/1362	Y123C	ASB16_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000293414		CCDS11478.1			1	
NVL	0	LGGM	GRCh37	1	224475656	224475656	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	6	.	.	ENST00000281701.6:c.1615G>A	p.Asp539Asn	p.D539N	ENST00000281701	NM_002533.3	539	Gat/Aat	0	1	1	UPI0000073F3E	0	getma.org/pdb.php?prot=NVL_HUMAN&from=435&to=617&var=D539N	ENST00000281701		ENSG00000143748	8070		44	1.175		HGNC	p.D350N		NVL		SNV							ENST00000340871	protein_coding	getma.org/?cm=var&var=hg19,1,224475656,C,T&fts=all		Gene3D:3.40.50.300,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF55,Low_complexity_(Seg):seg		D/N		T	low	1875/3123		getma.org/?cm=msa&ty=f&p=NVL_HUMAN&rb=435&re=617&var=D539N	tolerated(0.37)	Q96PA2_HUMAN			YES	NVL,missense_variant,p.Asp539Asn,ENST00000281701,NM_002533.3;NVL,missense_variant,p.Asp433Asn,ENST00000391875,NM_206840.2;NVL,missense_variant,p.Asp448Asn,ENST00000469075,NM_001243147.1;NVL,missense_variant,p.Asp422Asn,ENST00000469968,;NVL,missense_variant,p.Asp263Asn,ENST00000482491,;NVL,missense_variant,p.Asp350Asn,ENST00000340871,NM_001243146.1;NVL,missense_variant,p.Asp433Asn,ENST00000361463,;NVL,downstream_gene_variant,,ENST00000467882,;NVL,downstream_gene_variant,,ENST00000462893,;							MODERATE	1615/2571	D539N	NVL_HUMAN			Transcript		benign(0.003)	.	ENSP00000281701		CCDS1541.1			1	
OPRL1	0	LGGM	GRCh37	20	62724138	62724138	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	6	.	.	ENST00000349451.3:c.65T>C	p.Leu22Pro	p.L22P	ENST00000349451	NM_001200019.1	22	cTg/cCg	0	1		UPI0000001C6D	0	NA	ENST00000336866		ENSG00000125510	8155		15	0		HGNC	p.L22P		OPRL1		SNV							ENST00000349451	protein_coding	getma.org/?cm=var&var=hg19,20,62724138,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF11		L/P		C	neutral	429/3321		getma.org/?cm=msa&ty=f&p=OPRX_HUMAN&rb=1&re=67&var=L22P	tolerated(0.22)					OPRL1,missense_variant,p.Leu22Pro,ENST00000349451,NM_001200019.1;OPRL1,missense_variant,p.Leu22Pro,ENST00000336866,NM_182647.2;OPRL1,missense_variant,p.Leu22Pro,ENST00000355631,NM_000913.4;							MODERATE	65/1113	L22P	OPRX_HUMAN			Transcript		benign(0.276)	.	ENSP00000336843		CCDS13556.1			1	
COL7A1	0	LGGM	GRCh37	3	48612251	48612251	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	6	.	.	ENST00000328333.8:c.6327C>T	p.Pro2109=	p.P2109=	ENST00000328333	NM_000094.3	2109	ccC/ccT	0	1	1	UPI0000126D20	0		ENST00000328333		ENSG00000114270	2214		22			HGNC	p.P2109P		COL7A1		SNV			1				ENST00000328333	protein_coding			Pfam_domain:PF01391,hmmpanther:PTHR24023		P		A		6435/9276							YES	COL7A1,synonymous_variant,p.=,ENST00000328333,NM_000094.3;COL7A1,synonymous_variant,p.=,ENST00000454817,;COL7A1,upstream_gene_variant,,ENST00000422991,;MIR711,downstream_gene_variant,,ENST00000390201,;COL7A1,non_coding_transcript_exon_variant,,ENST00000487017,;COL7A1,upstream_gene_variant,,ENST00000459756,;COL7A1,upstream_gene_variant,,ENST00000467985,;COL7A1,upstream_gene_variant,,ENST00000462475,;							LOW	6327/8835		CO7A1_HUMAN			Transcript			.	ENSP00000332371		CCDS2773.1			1	
SPAG5	0	LGGM	GRCh37	17	26910961	26910961	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	6	.	.	ENST00000321765.5:c.2456A>G	p.Gln819Arg	p.Q819R	ENST00000321765	NM_006461.3	819	cAg/cGg	0	1	1	UPI0000073414	0	NA	ENST00000321765		ENSG00000076382	13452		52	0.625		HGNC	p.Q819R		SPAG5		SNV							ENST00000321765	protein_coding	getma.org/?cm=var&var=hg19,17,26910961,T,C&fts=all		hmmpanther:PTHR15347,hmmpanther:PTHR15347:SF0		Q/R		C	neutral	2789/4040		getma.org/?cm=msa&ty=f&p=SPAG5_HUMAN&rb=318&re=1191&var=Q819R	tolerated(0.13)				YES	SPAG5,missense_variant,p.Gln819Arg,ENST00000321765,NM_006461.3;RP11-192H23.4,missense_variant,p.Gln224Arg,ENST00000531839,;SPAG5,upstream_gene_variant,,ENST00000582076,;SPAG5,downstream_gene_variant,,ENST00000584206,;SPAG5,missense_variant,p.Gln103Arg,ENST00000378976,;SPAG5,3_prime_UTR_variant,,ENST00000580083,;RP11-192H23.4,intron_variant,,ENST00000481916,;SPAG5,upstream_gene_variant,,ENST00000580676,;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,;							MODERATE	2456/3582	Q819R	SPAG5_HUMAN			Transcript		possibly_damaging(0.779)	.	ENSP00000323300		CCDS32594.1			1	
RNF145	0	LGGM	GRCh37	5	158609058	158609058	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	6	.	.	ENST00000518802.1:c.385G>A	p.Asp129Asn	p.D129N	ENST00000518802	NM_001199380.1	129	Gac/Aac	0	1		UPI00000403E9	0	NA	ENST00000424310		ENSG00000145860	20853		46	1.39		HGNC	p.D113N		RNF145		SNV							ENST00000520638	protein_coding	getma.org/?cm=var&var=hg19,5,158609058,C,T&fts=all		Pfam_domain:PF13705		D/N		T	low	655/3613		getma.org/?cm=msa&ty=f&p=RN145_HUMAN&rb=7&re=506&var=D99N	tolerated(0.16)	Q8NDT8_HUMAN,Q8NC08_HUMAN,Q8N783_HUMAN,Q6MZY8_HUMAN,B7Z249_HUMAN,B3KWZ2_HUMAN				RNF145,missense_variant,p.Asp99Asn,ENST00000424310,NM_001199383.1;RNF145,missense_variant,p.Asp99Asn,ENST00000519865,NM_001199381.1;RNF145,missense_variant,p.Asp127Asn,ENST00000274542,NM_144726.2;RNF145,missense_variant,p.Asp116Asn,ENST00000521606,;RNF145,missense_variant,p.Asp129Asn,ENST00000518802,NM_001199380.1;RNF145,missense_variant,p.Asp113Asn,ENST00000520638,NM_001199382.1;RNF145,splice_region_variant,,ENST00000520548,;							MODERATE	295/1992	D99N	RN145_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000409064		CCDS56390.1			1	
NBEA	0	LGGM	GRCh37	13	35926459	35926459	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	6	.	.	ENST00000400445.3:c.6178A>T	p.Ser2060Cys	p.S2060C	ENST00000400445	NM_015678.4	2060	Agc/Tgc	0	1	1	UPI00004FF92F	0	NA	ENST00000400445		ENSG00000172915	7648		33	1.95		HGNC	p.S2060C		NBEA		SNV							ENST00000400445	protein_coding	getma.org/?cm=var&var=hg19,13,35926459,A,T&fts=all		hmmpanther:PTHR13743:SF62,hmmpanther:PTHR13743,Pfam_domain:PF06469		S/C		T	medium	6712/11119		getma.org/?cm=msa&ty=f&p=NBEA_HUMAN&rb=1966&re=2133&var=S2060C	deleterious(0)				YES	NBEA,missense_variant,p.Ser2060Cys,ENST00000540320,;NBEA,missense_variant,p.Ser2060Cys,ENST00000400445,NM_015678.4;NBEA,missense_variant,p.Ser2060Cys,ENST00000310336,;NBEA,missense_variant,p.Ser2057Cys,ENST00000379939,;							MODERATE	6178/8841	S2060C	NBEA_HUMAN			Transcript		probably_damaging(0.928)	.	ENSP00000383295		CCDS45026.1			1	
MAGEH1	0	LGGM	GRCh37	X	55478984	55478984	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	6	.	.	ENST00000342972.1:c.177G>A	p.Glu59=	p.E59=	ENST00000342972	NM_014061.3	59	gaG/gaA	0	1	1	UPI0000038A64	0		ENST00000342972		ENSG00000187601	24092		11			HGNC	p.E59E		MAGEH1		SNV							ENST00000342972	protein_coding			Low_complexity_(Seg):seg		E		A		447/1461							YES	MAGEH1,synonymous_variant,p.=,ENST00000342972,NM_014061.3;hsa-mir-4536-2,downstream_gene_variant,,ENST00000583537,;							LOW	177/660		MAGH1_HUMAN			Transcript			.	ENSP00000343706		CCDS14369.1			1	
DMTN	0	LGGM	GRCh37	8	21927013	21927013	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	6	.	.	ENST00000523266.1:c.378C>T	p.Pro126=	p.P126=	ENST00000523266	NM_001978.2	126	ccC/ccT	0	1		UPI0000129189	0		ENST00000265800		ENSG00000158856	3382		17			HGNC	p.P126P		DMTN		SNV							ENST00000517804	protein_coding			hmmpanther:PTHR24213		P		T		650/2554				E5RJ61_HUMAN				DMTN,synonymous_variant,p.=,ENST00000358242,;DMTN,synonymous_variant,p.=,ENST00000523266,NM_001978.2;DMTN,synonymous_variant,p.=,ENST00000519907,;DMTN,synonymous_variant,p.=,ENST00000381470,NM_001114137.1;DMTN,synonymous_variant,p.=,ENST00000415253,NM_001114138.1;DMTN,synonymous_variant,p.=,ENST00000265800,NM_001114135.2;DMTN,synonymous_variant,p.=,ENST00000432128,NM_001114136.1;DMTN,synonymous_variant,p.=,ENST00000443491,NM_001114139.1;DMTN,synonymous_variant,p.=,ENST00000523782,;DMTN,synonymous_variant,p.=,ENST00000517600,;DMTN,synonymous_variant,p.=,ENST00000517418,;DMTN,synonymous_variant,p.=,ENST00000520174,;DMTN,synonymous_variant,p.=,ENST00000517804,;DMTN,synonymous_variant,p.=,ENST00000523300,;DMTN,synonymous_variant,p.=,ENST00000523623,;DMTN,downstream_gene_variant,,ENST00000522148,;DMTN,downstream_gene_variant,,ENST00000519850,;DMTN,synonymous_variant,p.=,ENST00000517305,;DMTN,non_coding_transcript_exon_variant,,ENST00000518816,;DMTN,downstream_gene_variant,,ENST00000522340,;DMTN,downstream_gene_variant,,ENST00000520856,;DMTN,downstream_gene_variant,,ENST00000519333,;DMTN,downstream_gene_variant,,ENST00000519959,;							LOW	378/1218		DEMA_HUMAN			Transcript			.	ENSP00000265800		CCDS6020.1			1	
USP28	0	LGGM	GRCh37	11	113700069	113700069	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	6	.	.	ENST00000003302.4:c.911-2A>T		p.X304_splice	ENST00000003302	NM_020886.2			0	1	1	UPI0000137A00	0		ENST00000003302		ENSG00000048028	12625		34			HGNC	p.L11L		USP28		SNV							ENST00000544967	protein_coding							A		-/4669				Q96SV4_HUMAN			YES	USP28,splice_acceptor_variant,,ENST00000003302,NM_020886.2;USP28,splice_acceptor_variant,,ENST00000260188,;USP28,splice_acceptor_variant,,ENST00000545540,;USP28,splice_acceptor_variant,,ENST00000537706,;USP28,splice_acceptor_variant,,ENST00000538475,;USP28,splice_acceptor_variant,,ENST00000537642,;USP28,synonymous_variant,p.=,ENST00000544967,;USP28,downstream_gene_variant,,ENST00000542033,;USP28,splice_acceptor_variant,,ENST00000540438,;USP28,splice_acceptor_variant,,ENST00000545608,;USP28,splice_acceptor_variant,,ENST00000535607,;USP28,splice_acceptor_variant,,ENST00000537490,;							HIGH	911/3234		UBP28_HUMAN			Transcript			.	ENSP00000003302		CCDS31680.1			1	
ZNF677	0	LGGM	GRCh37	19	53740561	53740561	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	6	.	.	ENST00000333952.4:c.1419C>T	p.His473=	p.H473=	ENST00000333952		473	caC/caT	0	1	1	UPI000017DF85	0		ENST00000333952		ENSG00000197928	28730		46			HGNC	p.H473H		ZNF677		SNV							ENST00000333952	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF38,SMART_domains:SM00355,Superfamily_domains:SSF57667		H		A		1585/8731				M0R297_HUMAN			YES	ZNF677,synonymous_variant,p.=,ENST00000333952,;ZNF677,synonymous_variant,p.=,ENST00000598513,NM_182609.2;ZNF677,downstream_gene_variant,,ENST00000594681,;ZNF677,downstream_gene_variant,,ENST00000599012,;ZNF677,downstream_gene_variant,,ENST00000598806,;ZNF677,downstream_gene_variant,,ENST00000594517,;CTD-2245F17.6,upstream_gene_variant,,ENST00000596041,;ZNF677,downstream_gene_variant,,ENST00000599328,;ZNF677,downstream_gene_variant,,ENST00000593539,;							LOW	1419/1755		ZN677_HUMAN			Transcript			.	ENSP00000334394		CCDS12861.1			1	
OVCH2	0	LGGM	GRCh37	11	7716831	7716831	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	6	.	.	ENST00000454689.1:c.1252T>G	p.Tyr418Asp	p.Y418D	ENST00000454689	NM_198185.3	418	Tat/Gat	0	1	1	UPI00015294E3	0	getma.org/pdb.php?prot=OVCH2_HUMAN&from=311&to=418&var=Y418D	ENST00000454689		ENSG00000183378	29970		71	3.425		HGNC	p.Y418D		OVCH2		SNV							ENST00000454689	protein_coding	getma.org/?cm=var&var=hg19,11,7716831,A,C&fts=all		PROSITE_profiles:PS01180,hmmpanther:PTHR24251:SF16,hmmpanther:PTHR24251,Pfam_domain:PF00431,Gene3D:2.60.120.290,SMART_domains:SM00042,Superfamily_domains:SSF49854		Y/D		C	medium	1252/1695		getma.org/?cm=msa&ty=f&p=OVCH2_HUMAN&rb=311&re=418&var=Y418D	deleterious(0)				YES	OVCH2,missense_variant,p.Tyr418Asp,ENST00000454689,NM_198185.3;OVCH2,upstream_gene_variant,,ENST00000533663,;OVCH2,downstream_gene_variant,,ENST00000534817,;OVCH2,missense_variant,p.Tyr422Asp,ENST00000534193,;							MODERATE	1252/1695	Y418D	OVCH2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000407158					1	
KIAA1614	0	LGGM	GRCh37	1	180905110	180905110	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	6	.	.	ENST00000367588.4:c.2065G>A	p.Val689Met	p.V689M	ENST00000367588	NM_020950.1	689	Gtg/Atg	0	1	1	UPI00001C1D75	0	NA	ENST00000367588		ENSG00000135835	29327		54	0.805		HGNC	p.V310M		KIAA1614		SNV							ENST00000367587	protein_coding	getma.org/?cm=var&var=hg19,1,180905110,G,A&fts=all		hmmpanther:PTHR17130,hmmpanther:PTHR17130:SF7		V/M		A	low	2120/9654		getma.org/?cm=msa&ty=f&p=K1614_HUMAN&rb=630&re=829&var=V689M	tolerated(0.07)				YES	KIAA1614,missense_variant,p.Val689Met,ENST00000367588,NM_020950.1;KIAA1614,missense_variant,p.Val310Met,ENST00000367587,;KIAA1614,intron_variant,,ENST00000483705,;							MODERATE	2065/3573	V689M	K1614_HUMAN			Transcript		benign(0.337)	.	ENSP00000356560		CCDS41442.1			1	
SEMA6D	0	LGGM	GRCh37	15	48053560	48053560	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000316364.5:c.379C>T	p.Pro127Ser	p.P127S	ENST00000316364	NM_153618.1	127	Cca/Tca	0	1	1	UPI000006E201	0	getma.org/pdb.php?prot=SEM6D_HUMAN&from=57&to=483&var=P127S	ENST00000316364		ENSG00000137872	16770		26	1.725		HGNC	p.P127S		SEMA6D		SNV							ENST00000537942	protein_coding	getma.org/?cm=var&var=hg19,15,48053560,C,T&fts=all		Superfamily_domains:SSF101912,SMART_domains:SM00630,Gene3D:2.130.10.10,Pfam_domain:PF01403,hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF65,PROSITE_profiles:PS51004		P/S		T	low	818/6099		getma.org/?cm=msa&ty=f&p=SEM6D_HUMAN&rb=57&re=483&var=P127S	deleterious(0.01)	Q9HAH9_HUMAN,H0YMV0_HUMAN,H0YMA6_HUMAN,H0YL82_HUMAN			YES	SEMA6D,missense_variant,p.Pro127Ser,ENST00000316364,NM_153618.1;SEMA6D,missense_variant,p.Pro127Ser,ENST00000389433,;SEMA6D,missense_variant,p.Pro127Ser,ENST00000558014,NM_001198999.1;SEMA6D,missense_variant,p.Pro127Ser,ENST00000389432,;SEMA6D,missense_variant,p.Pro127Ser,ENST00000354744,NM_153617.1;SEMA6D,missense_variant,p.Pro127Ser,ENST00000358066,NM_020858.1;SEMA6D,missense_variant,p.Pro127Ser,ENST00000355997,NM_153619.1;SEMA6D,missense_variant,p.Pro127Ser,ENST00000389428,NM_153616.1;SEMA6D,missense_variant,p.Pro127Ser,ENST00000537942,;SEMA6D,missense_variant,p.Pro127Ser,ENST00000558816,;SEMA6D,missense_variant,p.Pro127Ser,ENST00000536845,;SEMA6D,missense_variant,p.Pro127Ser,ENST00000389425,NM_024966.2;SEMA6D,missense_variant,p.Pro127Ser,ENST00000559196,;SEMA6D,missense_variant,p.Pro127Ser,ENST00000561133,;SEMA6D,downstream_gene_variant,,ENST00000559184,;SEMA6D,downstream_gene_variant,,ENST00000560636,;SEMA6D,upstream_gene_variant,,ENST00000558431,;SEMA6D,downstream_gene_variant,,ENST00000561106,;							MODERATE	379/3222	P127S	SEM6D_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000324857		CCDS32225.1			1	
R3HDM2	0	LGGM	GRCh37	12	57663728	57663728	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	6	.	.	ENST00000347140.3:c.1352G>A	p.Gly451Asp	p.G451D	ENST00000347140		451	gGt/gAt	0	1	1	UPI00005A60D3	0	NA	ENST00000347140		ENSG00000179912	29167		25	1.1		HGNC	p.G465D		R3HDM2		SNV							ENST00000402412	protein_coding	getma.org/?cm=var&var=hg19,12,57663728,C,T&fts=all		hmmpanther:PTHR15672:SF13,hmmpanther:PTHR15672		G/D		T	low	1743/4331		getma.org/?cm=msa&ty=f&p=R3HD2_HUMAN&rb=435&re=851&var=G451D	tolerated(0.06)	C9J7N6_HUMAN			YES	R3HDM2,missense_variant,p.Gly465Asp,ENST00000402412,;R3HDM2,missense_variant,p.Gly451Asp,ENST00000347140,;R3HDM2,missense_variant,p.Gly451Asp,ENST00000358907,NM_014925.3;R3HDM2,missense_variant,p.Gly485Asp,ENST00000403821,;R3HDM2,missense_variant,p.Gly216Asp,ENST00000429355,;R3HDM2,missense_variant,p.Gly146Asp,ENST00000441731,;R3HDM2,missense_variant,p.Gly178Asp,ENST00000413953,;R3HDM2,upstream_gene_variant,,ENST00000548161,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000466401,;R3HDM2,upstream_gene_variant,,ENST00000546843,;RP11-123K3.4,3_prime_UTR_variant,,ENST00000548184,;R3HDM2,non_coding_transcript_exon_variant,,ENST00000393811,;							MODERATE	1352/2931	G451D	R3HD2_HUMAN			Transcript		possibly_damaging(0.768)	.	ENSP00000317903		CCDS8937.2			1	
CHDH	0	LGGM	GRCh37	3	53852999	53852999	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	6	.	.	ENST00000315251.6:c.1332C>T	p.Asp444=	p.D444=	ENST00000315251	NM_018397.4	444	gaC/gaT	0	1	1	UPI000013C538	0		ENST00000315251		ENSG00000016391	24288		27			HGNC	p.D444D	rs757479971	CHDH		SNV							ENST00000315251	protein_coding			hmmpanther:PTHR11552,hmmpanther:PTHR11552:SF14,Pfam_domain:PF05199,PIRSF_domain:PIRSF000137,Superfamily_domains:SSF54373		D		A		1770/7665				C9JYW4_HUMAN,C9J7D8_HUMAN,B4DMQ4_HUMAN			YES	CHDH,synonymous_variant,p.=,ENST00000315251,NM_018397.4;CHDH,downstream_gene_variant,,ENST00000481668,;CHDH,downstream_gene_variant,,ENST00000467802,;	0.000116						LOW	1332/1785		CHDH_HUMAN			Transcript			.	ENSP00000319851	8.24E-06	CCDS2873.1			1	
CA7	0	LGGM	GRCh37	16	66887350	66887350	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	6	.	.	ENST00000338437.2:c.744G>A	p.Arg248=	p.R248=	ENST00000338437	NM_005182.2	248	cgG/cgA	0	1	1	UPI000000D814	0		ENST00000338437		ENSG00000168748	1381		32			HGNC	p.R192R		CA7		SNV							ENST00000394069	protein_coding			Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF26,SMART_domains:SM01057,Superfamily_domains:SSF51069		R		A		853/1555							YES	CA7,synonymous_variant,p.=,ENST00000394069,NM_001014435.1;CA7,synonymous_variant,p.=,ENST00000338437,NM_005182.2;NAE1,intron_variant,,ENST00000561579,;RP11-61A14.1,non_coding_transcript_exon_variant,,ENST00000551187,;CA7,3_prime_UTR_variant,,ENST00000548332,;							LOW	744/795		CAH7_HUMAN			Transcript			.	ENSP00000345659		CCDS10821.1			1	
WBSCR28	0	LGGM	GRCh37	7	73279506	73279506	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	6	.	.	ENST00000320531.2:c.256G>A	p.Val86Ile	p.V86I	ENST00000320531	NM_182504.3	86	Gtc/Atc	0	1	1	UPI00001408E5	0	NA	ENST00000320531		ENSG00000175877	23018		48	1.1		HGNC	p.V86I		WBSCR28		SNV							ENST00000320531	protein_coding	getma.org/?cm=var&var=hg19,7,73279506,G,A&fts=all		Pfam_domain:PF15164		V/I		A	low	292/854		getma.org/?cm=msa&ty=f&p=WBS28_HUMAN&rb=1&re=233&var=V86I	tolerated(0.22)				YES	WBSCR28,missense_variant,p.Val86Ile,ENST00000320531,NM_182504.3;WBSCR28,3_prime_UTR_variant,,ENST00000426490,;							MODERATE	256/798	V86I	WBS28_HUMAN			Transcript		possibly_damaging(0.621)	.	ENSP00000316775		CCDS43597.1			1	
LILRB2	0	LGGM	GRCh37	19	54782918	54782918	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	6	.	.	ENST00000391749.4:c.704T>A	p.Val235Glu	p.V235E	ENST00000391749	NM_001278406.1	235	gTg/gAg	0	1	1	UPI00000707E4	0	getma.org/pdb.php?prot=LIRB2_HUMAN&from=224&to=317&var=V235E	ENST00000391749		ENSG00000131042	6606		39	3.77		HGNC	p.V235E		LILRB2		SNV							ENST00000391749	protein_coding	getma.org/?cm=var&var=hg19,19,54782918,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11738,hmmpanther:PTHR11738:SF92,SMART_domains:SM00409,Superfamily_domains:SSF48726		V/E		T	high	976/2286		getma.org/?cm=msa&ty=f&p=LIRB2_HUMAN&rb=224&re=317&var=V235E	deleterious(0)	C9JF29_HUMAN			YES	LILRB2,missense_variant,p.Val235Glu,ENST00000391748,NM_001278403.1;LILRB2,missense_variant,p.Val235Glu,ENST00000314446,NM_001080978.2,NM_005874.3;LILRB2,missense_variant,p.Val235Glu,ENST00000391749,NM_001278406.1;LILRB2,missense_variant,p.Val119Glu,ENST00000434421,NM_001278404.1;LILRB2,missense_variant,p.Val235Glu,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,;							MODERATE	704/1797	V235E	LIRB2_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000375629		CCDS12886.1			1	
STRA6	0	LGGM	GRCh37	15	74487739	74487739	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	6	.	.	ENST00000563965.1:c.618T>A	p.Ala206=	p.A206=	ENST00000563965		206	gcT/gcA	0	1		UPI0000037776	0		ENST00000323940		ENSG00000137868	30650		14			HGNC	p.A182A		STRA6		SNV			1				ENST00000574278	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR21444:SF5,hmmpanther:PTHR21444,Pfam_domain:PF14752		A		T		747/2864				I3L0M6_HUMAN				STRA6,synonymous_variant,p.=,ENST00000323940,NM_001142618.1,NM_001142619.1,NM_001142617.1;STRA6,synonymous_variant,p.=,ENST00000395105,NM_022369.3,NM_001199042.1;STRA6,synonymous_variant,p.=,ENST00000423167,;STRA6,synonymous_variant,p.=,ENST00000416286,;STRA6,synonymous_variant,p.=,ENST00000449139,;STRA6,synonymous_variant,p.=,ENST00000535552,NM_001199040.1;STRA6,synonymous_variant,p.=,ENST00000563965,;STRA6,synonymous_variant,p.=,ENST00000574278,NM_001199041.1;STRA6,3_prime_UTR_variant,,ENST00000432245,NM_001142620.1;STRA6,downstream_gene_variant,,ENST00000571341,;STRA6,non_coding_transcript_exon_variant,,ENST00000574439,;STRA6,downstream_gene_variant,,ENST00000573456,;STRA6,downstream_gene_variant,,ENST00000574570,;STRA6,synonymous_variant,p.=,ENST00000569936,;STRA6,non_coding_transcript_exon_variant,,ENST00000573724,;STRA6,intron_variant,,ENST00000545137,;STRA6,upstream_gene_variant,,ENST00000572975,;STRA6,downstream_gene_variant,,ENST00000573214,;STRA6,downstream_gene_variant,,ENST00000573391,;							LOW	501/2004		STRA6_HUMAN			Transcript			.	ENSP00000326085		CCDS10261.1			1	
FNDC3B	0	LGGM	GRCh37	3	172070834	172070834	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	6	.	.	ENST00000336824.4:c.2756T>G	p.Met919Arg	p.M919R	ENST00000336824	NM_001135095.1	919	aTg/aGg	0	1	1	UPI00001AE8B2	0	getma.org/pdb.php?prot=FND3B_HUMAN&from=881&to=947&var=M919R	ENST00000336824		ENSG00000075420	24670		29	-0.62		HGNC	p.M919R		FNDC3B		SNV							ENST00000415807	protein_coding	getma.org/?cm=var&var=hg19,3,172070834,T,G&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF54,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		M/R		G	neutral	2855/7904		getma.org/?cm=msa&ty=f&p=FND3B_HUMAN&rb=881&re=947&var=M919R	tolerated(0.08)				YES	FNDC3B,missense_variant,p.Met919Arg,ENST00000336824,NM_001135095.1;FNDC3B,missense_variant,p.Met919Arg,ENST00000415807,NM_022763.3;FNDC3B,missense_variant,p.Met919Arg,ENST00000416957,;FNDC3B,downstream_gene_variant,,ENST00000490832,;							MODERATE	2756/3615	M919R	FND3B_HUMAN			Transcript		benign(0)	.	ENSP00000338523		CCDS3217.1			1	
TTI1	0	LGGM	GRCh37	20	36640185	36640185	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	6	.	.	ENST00000373448.2:c.2034T>G	p.Val678=	p.V678=	ENST00000373448	NM_014657.1	678	gtT/gtG	0	1		UPI000012DB27	0		ENST00000373447		ENSG00000101407	29029		37			HGNC	p.V678V		TTI1		SNV							ENST00000373447	protein_coding			Superfamily_domains:SSF48371,PIRSF_domain:PIRSF005250,Gene3D:1.25.10.10,hmmpanther:PTHR18460		V		C		2140/3825				D6W4K3_HUMAN				TTI1,synonymous_variant,p.=,ENST00000373448,NM_014657.1;TTI1,synonymous_variant,p.=,ENST00000373447,;TTI1,synonymous_variant,p.=,ENST00000449821,;TTI1,downstream_gene_variant,,ENST00000487362,;							LOW	2034/3270		TTI1_HUMAN			Transcript			.	ENSP00000362546		CCDS13300.1			1	
COLEC11	0	LGGM	GRCh37	2	3691390	3691390	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	6	.	.	ENST00000418971.2:c.540C>T	p.Ala180=	p.A180=	ENST00000418971	NM_001255985.1	180	gcC/gcT	0	1		UPI0000049DFF	0		ENST00000349077		ENSG00000118004	17213		28			HGNC	p.A116A		COLEC11		SNV			1				ENST00000402922	protein_coding			PROSITE_profiles:PS50041,hmmpanther:PTHR24024:SF14,hmmpanther:PTHR24024,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		A		T		601/1259								COLEC11,synonymous_variant,p.=,ENST00000403096,NM_001255986.1;COLEC11,synonymous_variant,p.=,ENST00000236693,NM_199235.2;COLEC11,synonymous_variant,p.=,ENST00000382062,NM_001255983.1,NM_001255982.1;COLEC11,synonymous_variant,p.=,ENST00000418971,NM_001255985.1;COLEC11,synonymous_variant,p.=,ENST00000349077,NM_024027.4;COLEC11,synonymous_variant,p.=,ENST00000402922,NM_001255988.1;COLEC11,synonymous_variant,p.=,ENST00000402794,NM_001255987.1;COLEC11,synonymous_variant,p.=,ENST00000404205,NM_001255989.1;COLEC11,downstream_gene_variant,,ENST00000438814,;COLEC11,non_coding_transcript_exon_variant,,ENST00000487365,;COLEC11,non_coding_transcript_exon_variant,,ENST00000460971,;COLEC11,3_prime_UTR_variant,,ENST00000416132,;							LOW	498/816		COL11_HUMAN			Transcript			.	ENSP00000339168		CCDS1649.1			1	
CNTN3	0	LGGM	GRCh37	3	74570262	74570262	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	6	.	.	ENST00000263665.6:c.2T>C	p.Met1?	p.M1?	ENST00000263665	NM_020872.1	1	aTg/aCg	0	1	1	UPI00001A7974	0	NA	ENST00000263665		ENSG00000113805	2173		17	0		HGNC	p.M1T		CNTN3		SNV							ENST00000263665	protein_coding	getma.org/?cm=var&var=hg19,3,74570262,A,G&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF54,Cleavage_site_(Signalp):SignalP-noTM		M/T		G	NA	30/4948		http://getma.org/?cm=msa&ty=f&p=CNTN3_HUMAN&rb=1&re=55&var=M1T	deleterious(0)				YES	CNTN3,start_lost,p.Met1?,ENST00000263665,NM_020872.1;							HIGH	Feb-87	M1T	CNTN3_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000263665		CCDS33790.1			1	
ZMYND15	0	LGGM	GRCh37	17	4645690	4645690	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	6	.	.	ENST00000573751.2:c.1048C>T	p.Pro350Ser	p.P350S	ENST00000573751		350	Cca/Tca	0	1		UPI000153D80D	0	NA	ENST00000433935		ENSG00000141497	20997		25	0.895		HGNC	p.P350S		ZMYND15		SNV			1				ENST00000592813	protein_coding	getma.org/?cm=var&var=hg19,17,4645690,C,T&fts=all		Pfam_domain:PF01753,PROSITE_profiles:PS50865,hmmpanther:PTHR12197,hmmpanther:PTHR12197:SF130,Superfamily_domains:SSF144232		P/S		T	low	1105/2411		getma.org/?cm=msa&ty=f&p=ZMY15_HUMAN&rb=313&re=359&var=P350S	tolerated(0.18)					ZMYND15,missense_variant,p.Pro350Ser,ENST00000433935,NM_001136046.2,NM_001267822.1;ZMYND15,missense_variant,p.Pro350Ser,ENST00000573751,;ZMYND15,missense_variant,p.Pro350Ser,ENST00000592813,NM_032265.2;ZMYND15,missense_variant,p.Pro350Ser,ENST00000269289,;CXCL16,upstream_gene_variant,,ENST00000293778,NM_022059.2;CXCL16,upstream_gene_variant,,ENST00000574412,NM_001100812.1;CXCL16,upstream_gene_variant,,ENST00000573123,;ZMYND15,non_coding_transcript_exon_variant,,ENST00000574829,;ZMYND15,upstream_gene_variant,,ENST00000571782,;CXCL16,upstream_gene_variant,,ENST00000575168,;							MODERATE	1048/2229	P350S	ZMY15_HUMAN			Transcript		possibly_damaging(0.852)	.	ENSP00000391742		CCDS45584.1			1	
NRF1	0	LGGM	GRCh37	7	129394988	129394988	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	6	.	.	ENST00000393232.1:c.1479C>T	p.Gly493=	p.G493=	ENST00000393232	NM_005011.3	493	ggC/ggT	0	1		UPI000003BB3B	0		ENST00000223190		ENSG00000106459	7996		29			HGNC	p.G493G		NRF1		SNV							ENST00000223190	protein_coding			hmmpanther:PTHR20338		G		T		1557/2424				C9JP85_HUMAN,B4DDV6_HUMAN				NRF1,synonymous_variant,p.=,ENST00000393232,NM_005011.3;NRF1,synonymous_variant,p.=,ENST00000393230,NM_001040110.1;NRF1,synonymous_variant,p.=,ENST00000353868,;NRF1,synonymous_variant,p.=,ENST00000311967,;NRF1,synonymous_variant,p.=,ENST00000223190,;NRF1,synonymous_variant,p.=,ENST00000393231,;NRF1,synonymous_variant,p.=,ENST00000539636,;RNA5SP244,upstream_gene_variant,,ENST00000390936,;							LOW	1479/1512		NRF1_HUMAN			Transcript			.	ENSP00000223190		CCDS5813.2			1	
SIPA1L3	0	LGGM	GRCh37	19	38652961	38652961	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	6	.	.	ENST00000222345.6:c.3730C>T	p.Pro1244Ser	p.P1244S	ENST00000222345	NM_015073.1	1244	Ccg/Tcg	0	1	1	UPI00001D8160	0	NA	ENST00000222345		ENSG00000105738	23801		32	0.345		HGNC	p.P1244S	rs755961383	SIPA1L3	6.06E-05	SNV							ENST00000222345	protein_coding	getma.org/?cm=var&var=hg19,19,38652961,C,T&fts=all		hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF15		P/S		T	neutral	4239/7987		getma.org/?cm=msa&ty=f&p=SI1L3_HUMAN&rb=1229&re=1428&var=P1244S	tolerated(0.91)	Q8IUV1_HUMAN			YES	SIPA1L3,missense_variant,p.Pro1244Ser,ENST00000222345,NM_015073.1;SIPA1L3,upstream_gene_variant,,ENST00000595495,;							MODERATE	3730/5346	P1244S	SI1L3_HUMAN			Transcript		benign(0.002)	.	ENSP00000222345	8.24E-06	CCDS33007.1			1	
PSPC1	0	LGGM	GRCh37	13	20325439	20325439	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	85	6	.	.	ENST00000338910.4:c.939T>C	p.His313=	p.H313=	ENST00000338910	NM_001042414.2	313	caT/caC	0	1	1	UPI000006F2BE	0		ENST00000338910		ENSG00000121390	20320		91			HGNC	p.H313H	rs760891624	PSPC1		SNV							ENST00000338910	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23189,hmmpanther:PTHR23189:SF14		H		G		1099/2407							YES	PSPC1,synonymous_variant,p.=,ENST00000338910,NM_001042414.2;PSPC1,synonymous_variant,p.=,ENST00000492741,;PSPC1,synonymous_variant,p.=,ENST00000471658,;	0.000117						LOW	939/1572		PSPC1_HUMAN			Transcript			.	ENSP00000343966	8.28E-06	CCDS41870.1			1	
COLEC12	0	LGGM	GRCh37	18	335228	335228	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000400256.3:c.1330C>T	p.Pro444Ser	p.P444S	ENST00000400256	NM_130386.2	444	Cca/Tca	0	1	1	UPI00002018EC	0	NA	ENST00000400256		ENSG00000158270	16016		26	1.7		HGNC	p.P444S		COLEC12		SNV							ENST00000400256	protein_coding	getma.org/?cm=var&var=hg19,18,335228,G,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24021,hmmpanther:PTHR24021:SF19,Low_complexity_(Seg):seg		P/S		A	low	1538/3121		getma.org/?cm=msa&ty=f&p=COL12_HUMAN&rb=441&re=499&var=P444S	deleterious(0.01)				YES	COLEC12,missense_variant,p.Pro444Ser,ENST00000400256,NM_130386.2;COLEC12,splice_region_variant,,ENST00000582147,;							MODERATE	1330/2229	P444S	COL12_HUMAN			Transcript		unknown(0)	.	ENSP00000383115		CCDS32782.1			1	
DIS3L2	0	LGGM	GRCh37	2	233075085	233075085	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	6	.	.	ENST00000325385.7:c.1174G>A	p.Asp392Asn	p.D392N	ENST00000325385	NM_152383.4	392	Gat/Aat	0	1	1	UPI000004BF03	0	getma.org/pdb.php?prot=DI3L2_HUMAN&from=371&to=721&var=D392N	ENST00000325385		ENSG00000144535	28648		32	3.12		HGNC	p.D27N		DIS3L2		SNV			1				ENST00000424049	protein_coding	getma.org/?cm=var&var=hg19,2,233075085,G,A&fts=all		HAMAP:MF_03045,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF9,Pfam_domain:PF00773,SMART_domains:SM00955,Superfamily_domains:SSF50249		D/N		A	medium	1450/3501		getma.org/?cm=msa&ty=f&p=DI3L2_HUMAN&rb=371&re=721&var=D392N	deleterious(0)	H7C440_HUMAN,C9JGP4_HUMAN			YES	DIS3L2,missense_variant,p.Asp392Asn,ENST00000325385,NM_152383.4;DIS3L2,missense_variant,p.Asp392Asn,ENST00000273009,NM_001257281.1;DIS3L2,missense_variant,p.Asp392Asn,ENST00000409307,;DIS3L2,missense_variant,p.Asp27Asn,ENST00000424049,;DIS3L2,missense_variant,p.Asp392Asn,ENST00000390005,;DIS3L2,3_prime_UTR_variant,,ENST00000433430,;DIS3L2,3_prime_UTR_variant,,ENST00000445090,;							MODERATE	1174/2658	D392N	DI3L2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315569		CCDS42834.1			1	
AK8	0	LGGM	GRCh37	9	135698603	135698603	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	6	.	.	ENST00000298545.3:c.878G>T	p.Arg293Met	p.R293M	ENST00000298545	NM_152572.2	293	aGg/aTg	0	1	1	UPI0000071236	0	getma.org/pdb.php?prot=KAD8_HUMAN&from=273&to=451&var=R293M	ENST00000298545		ENSG00000165695	26526		79	1.04		HGNC	p.R293M		AK8		SNV							ENST00000298545	protein_coding	getma.org/?cm=var&var=hg19,9,135698603,C,A&fts=all		Gene3D:3.40.50.300,HAMAP:MF_00235,Pfam_domain:PF00406,hmmpanther:PTHR23359,hmmpanther:PTHR23359:SF64,Superfamily_domains:SSF52540		R/M		A	low	1400/2072		getma.org/?cm=msa&ty=f&p=KAD8_HUMAN&rb=273&re=451&var=R293M	deleterious(0.01)				YES	AK8,missense_variant,p.Arg293Met,ENST00000298545,NM_152572.2;AK8,non_coding_transcript_exon_variant,,ENST00000477396,;AK8,non_coding_transcript_exon_variant,,ENST00000476719,;							MODERATE	878/1440	R293M	KAD8_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000298545		CCDS6954.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110420283	110420283	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	6	.	.	ENST00000378402.5:c.1819T>G	p.Phe607Val	p.F607V	ENST00000378402	NM_177531.4	607	Ttt/Gtt	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		60	2.32		HGNC	p.F607V		PKHD1L1		SNV							ENST00000378402	protein_coding	getma.org/?cm=var&var=hg19,8,110420283,T,G&fts=all				F/V		G	medium	1923/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=480&re=679&var=F607V	deleterious(0.01)				YES	PKHD1L1,missense_variant,p.Phe607Val,ENST00000378402,NM_177531.4;							MODERATE	1819/12732	F607V	PKHL1_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000367655		CCDS47911.1			1	
CNTN4	0	LGGM	GRCh37	3	2908594	2908594	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	6	.	.	ENST00000397461.1:c.613G>A	p.Val205Ile	p.V205I	ENST00000397461	NM_001206955.1	205	Gtc/Atc	0	1	1	UPI000007446C	0	getma.org/pdb.php?prot=CNTN4_HUMAN&from=123&to=205&var=V205I	ENST00000397461		ENSG00000144619	2174		54	2.915		HGNC	p.V205I		CNTN4		SNV			1				ENST00000427741	protein_coding	getma.org/?cm=var&var=hg19,3,2908594,G,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF568,SMART_domains:SM00409		V/I		A	medium	997/5198		getma.org/?cm=msa&ty=f&p=CNTN4_HUMAN&rb=123&re=205&var=V205I	deleterious(0.03)	G3XAD4_HUMAN,C9JMQ2_HUMAN,C9JGK9_HUMAN			YES	CNTN4,missense_variant,p.Val205Ile,ENST00000397461,NM_001206955.1;CNTN4,missense_variant,p.Val205Ile,ENST00000418658,NM_175607.2;CNTN4,missense_variant,p.Val205Ile,ENST00000427331,;CNTN4,5_prime_UTR_variant,,ENST00000358480,;CNTN4,non_coding_transcript_exon_variant,,ENST00000473058,;CNTN4,missense_variant,p.Val205Ile,ENST00000427741,;CNTN4,non_coding_transcript_exon_variant,,ENST00000430505,;CNTN4,non_coding_transcript_exon_variant,,ENST00000438282,;							MODERATE	613/3081	V205I	CNTN4_HUMAN			Transcript		benign(0.438)	.	ENSP00000380602		CCDS43041.1			1	
ZBTB41	0	LGGM	GRCh37	1	197168593	197168593	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	6	.	.	ENST00000367405.4:c.1011T>C	p.Ala337=	p.A337=	ENST00000367405	NM_194314.2	337	gcT/gcC	0	1	1	UPI00001D7DE7	0		ENST00000367405		ENSG00000177888	24819		60			HGNC	p.A337A		ZBTB41		SNV							ENST00000367405	protein_coding			hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF161		A		G		1080/8478				Q8N9U5_HUMAN			YES	ZBTB41,synonymous_variant,p.=,ENST00000367405,NM_194314.2;CRB1,upstream_gene_variant,,ENST00000535699,NM_001257965.1;ZBTB41,non_coding_transcript_exon_variant,,ENST00000467322,;							LOW	1011/2730		ZBT41_HUMAN			Transcript			.	ENSP00000356375		CCDS30960.1			1	
C2orf78	0	LGGM	GRCh37	2	74042215	74042215	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	6	.	.	ENST00000409561.1:c.865G>T	p.Gly289Trp	p.G289W	ENST00000409561	NM_001080474.1	289	Ggg/Tgg	0	1	1	UPI000015FD87	0	NA	ENST00000409561		ENSG00000187833	34349		85	1.39		HGNC	p.G289W		C2orf78		SNV							ENST00000409561	protein_coding	getma.org/?cm=var&var=hg19,2,74042215,G,T&fts=all		hmmpanther:PTHR31466,hmmpanther:PTHR31466:SF1		G/W		T	low	986/3045		getma.org/?cm=msa&ty=f&p=CB078_HUMAN&rb=7&re=920&var=G289W	deleterious(0)				YES	C2orf78,missense_variant,p.Gly289Trp,ENST00000409561,NM_001080474.1;							MODERATE	865/2769	G289W	CB078_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000387124		CCDS46338.1			1	
OR1J2	0	LGGM	GRCh37	9	125273965	125273965	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	6	.	.	ENST00000335302.5:c.885G>A	p.Arg295=	p.R295=	ENST00000335302	NM_054107.1	295	agG/agA	0	1	1	UPI0000041CF3	0		ENST00000335302		ENSG00000197233	8209		46			HGNC	p.R295R		OR1J2		SNV							ENST00000335302	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF324,Superfamily_domains:SSF81321		R		A		885/942							YES	OR1J2,synonymous_variant,p.=,ENST00000335302,NM_054107.1;							LOW	885/942		OR1J2_HUMAN			Transcript			.	ENSP00000335575		CCDS35121.1			1	
CCNA2	0	LGGM	GRCh37	4	122742242	122742242	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	6	.	.	ENST00000274026.5:c.462A>G	p.Ser154=	p.S154=	ENST00000274026	NM_001237.3	154	tcA/tcG	0	1	1	UPI000013D9E8	0		ENST00000274026		ENSG00000145386	1578		50			HGNC	p.S154S		CCNA2		SNV							ENST00000274026	protein_coding			hmmpanther:PTHR10177:SF69,hmmpanther:PTHR10177,PIRSF_domain:PIRSF001771		S		C		766/2797							YES	CCNA2,synonymous_variant,p.=,ENST00000274026,NM_001237.3;BBS7,downstream_gene_variant,,ENST00000264499,NM_176824.2;EXOSC9,downstream_gene_variant,,ENST00000512454,;EXOSC9,downstream_gene_variant,,ENST00000379663,NM_001034194.1;EXOSC9,downstream_gene_variant,,ENST00000243498,NM_005033.2;BBS7,downstream_gene_variant,,ENST00000507814,;EXOSC9,downstream_gene_variant,,ENST00000503236,;EXOSC9,downstream_gene_variant,,ENST00000513654,;							LOW	462/1299		CCNA2_HUMAN			Transcript			.	ENSP00000274026		CCDS3723.1			1	
VANGL2	0	LGGM	GRCh37	1	160389220	160389220	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	6	.	.	ENST00000368061.2:c.621T>A	p.Ala207=	p.A207=	ENST00000368061	NM_020335.2	207	gcT/gcA	0	1	1	UPI00001C1D79	0		ENST00000368061		ENSG00000162738	15511		48			HGNC	p.A207A		VANGL2		SNV			1				ENST00000368061	protein_coding			Pfam_domain:PF06638,PIRSF_domain:PIRSF007991,hmmpanther:PTHR20886,hmmpanther:PTHR20886:SF10		A		A		1095/5340							YES	VANGL2,synonymous_variant,p.=,ENST00000368061,NM_020335.2;VANGL2,upstream_gene_variant,,ENST00000483408,;							LOW	621/1566		VANG2_HUMAN			Transcript			.	ENSP00000357040		CCDS30915.1			1	
FSIP2	0	LGGM	GRCh37	2	186665672	186665672	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	72	6	.	.	ENST00000343098.5:c.11906T>C	p.Ile3969Thr	p.I3969T	ENST00000343098	NM_173651.2	3969	aTa/aCa	0	1		UPI000198D023	0	NA	ENST00000424728		ENSG00000188738	21675		78	0.345		HGNC	p.I3880T	rs534609745	FSIP2		SNV							ENST00000424728	protein_coding	getma.org/?cm=var&var=hg19,2,186665672,T,C&fts=all	C:0.0008	hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		I/T		C	neutral	11639/20788		getma.org/?cm=msa&ty=f&p=FSIP2_HUMAN&rb=3711&re=3910&var=I3880T			C:0	C:0		FSIP2,missense_variant,p.Ile3969Thr,ENST00000343098,NM_173651.2;FSIP2,missense_variant,p.Ile3880Thr,ENST00000424728,;AC008174.3,upstream_gene_variant,,ENST00000436557,;AC008174.3,upstream_gene_variant,,ENST00000429929,;FSIP2,intron_variant,,ENST00000415915,;		C:0.0002					MODERATE	11639/20724	I3880T	FSIP2_HUMAN		C:0	Transcript		benign(0.011)	.	ENSP00000401306	5.55E-05			C:0	1	
RNF17	0	LGGM	GRCh37	13	25373655	25373655	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	6	.	.	ENST00000255324.5:c.1522C>A	p.His508Asn	p.H508N	ENST00000255324	NM_031277.2	508	Cat/Aat	0	1	1	UPI00001FC8BA	0	NA	ENST00000255324		ENSG00000132972	10060		43	0.345		HGNC	p.H509N		RNF17		SNV							ENST00000255325	protein_coding	getma.org/?cm=var&var=hg19,13,25373655,C,A&fts=all		hmmpanther:PTHR16442,Gene3D:2.30.30.140,Pfam_domain:PF00567,Superfamily_domains:SSF63748		H/N		A	neutral	1574/5119		getma.org/?cm=msa&ty=f&p=RNF17_HUMAN&rb=411&re=532&var=H508N	tolerated(0.61)				YES	RNF17,missense_variant,p.His508Asn,ENST00000255324,NM_031277.2,NM_001184993.1;RNF17,missense_variant,p.His508Asn,ENST00000381921,;RNF17,missense_variant,p.His508Asn,ENST00000255325,;RNF17,upstream_gene_variant,,ENST00000418120,;RNF17,downstream_gene_variant,,ENST00000255326,;							MODERATE	1522/4872	H508N	RNF17_HUMAN			Transcript		benign(0.018)	.	ENSP00000255324		CCDS9308.2			1	
KDM5A	0	LGGM	GRCh37	12	406228	406228	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	6	.	.	ENST00000399788.2:c.4213G>A	p.Ala1405Thr	p.A1405T	ENST00000399788	NM_001042603.1	1405	Gct/Act	0	1	1	UPI0000DB2E73	0	NA	ENST00000399788		ENSG00000073614	9886		32	0.69		HGNC	p.A1405T		KDM5A		SNV							ENST00000382815	protein_coding	getma.org/?cm=var&var=hg19,12,406228,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10694,hmmpanther:PTHR10694:SF17		A/T		T	neutral	4576/10763		getma.org/?cm=msa&ty=f&p=KDM5A_HUMAN&rb=1219&re=1418&var=A1405T	tolerated(0.17)				YES	KDM5A,missense_variant,p.Ala1405Thr,ENST00000399788,NM_001042603.1;KDM5A,missense_variant,p.Ala1405Thr,ENST00000382815,;KDM5A,upstream_gene_variant,,ENST00000540838,;							MODERATE	4213/5073	A1405T	KDM5A_HUMAN			Transcript		benign(0.039)	.	ENSP00000382688		CCDS41736.1			1	
OCA2	0	LGGM	GRCh37	15	28202821	28202821	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	6	.	.	ENST00000354638.3:c.1697G>A	p.Arg566His	p.R566H	ENST00000354638	NM_000275.2	566	cGc/cAc	0	1	1	UPI000013D158	0	NA	ENST00000354638		ENSG00000104044	8101		27	1.07		HGNC	p.R566H		OCA2		SNV			1				ENST00000382996	protein_coding	getma.org/?cm=var&var=hg19,15,28202821,C,T&fts=all		hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF67,Pfam_domain:PF03600		R/H		T	low	1853/3186		getma.org/?cm=msa&ty=f&p=P_HUMAN&rb=338&re=757&var=R566H	deleterious(0.02)	C9JDV3_HUMAN			YES	OCA2,missense_variant,p.Arg566His,ENST00000354638,NM_000275.2;OCA2,missense_variant,p.Arg542His,ENST00000353809,;OCA2,missense_variant,p.Arg566His,ENST00000382996,;							MODERATE	1697/2517	R566H	P_HUMAN			Transcript		benign(0.378)	.	ENSP00000346659		CCDS10020.1			1	
TECTA	0	LGGM	GRCh37	11	121016782	121016782	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	6	.	.	ENST00000392793.1:c.4062T>A	p.Thr1354=	p.T1354=	ENST00000392793		1354	acT/acA	0	1		UPI000045659D	0		ENST00000264037		ENSG00000109927	11720		40			HGNC	p.T1354T		TECTA		SNV			1				ENST00000392793	protein_coding			hmmpanther:PTHR11339,Pfam_domain:PF08742,SMART_domains:SM00832		T		A		4062/6468								TECTA,synonymous_variant,p.=,ENST00000392793,;TECTA,synonymous_variant,p.=,ENST00000264037,NM_005422.2;TECTA,non_coding_transcript_exon_variant,,ENST00000478058,;							LOW	4062/6468		TECTA_HUMAN			Transcript			.	ENSP00000264037		CCDS8434.1			1	
LY75	0	LGGM	GRCh37	2	160755354	160755354	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	6	.	.	ENST00000504764.1:c.311C>T	p.Ala104Val	p.A104V	ENST00000504764	NM_001198759.1	104	gCc/gTc	0	1		UPI00001AE885	0	getma.org/pdb.php?prot=LY75_HUMAN&from=33&to=156&var=A104V	ENST00000263636		ENSG00000054219	6729		31	0.28		HGNC	p.A104V		LY75		SNV							ENST00000554112	protein_coding	getma.org/?cm=var&var=hg19,2,160755354,G,A&fts=all		Gene3D:2.80.10.50,PROSITE_profiles:PS50231,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00458,Superfamily_domains:SSF50370		A/V		A	neutral	339/6886		getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=33&re=156&var=A104V	tolerated(1)					LY75,missense_variant,p.Ala104Val,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Ala104Val,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.Ala104Val,ENST00000554112,;LY75-CD302,missense_variant,p.Ala104Val,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.Ala104Val,ENST00000553424,;LY75,downstream_gene_variant,,ENST00000492955,;LY75,downstream_gene_variant,,ENST00000471164,;LY75,non_coding_transcript_exon_variant,,ENST00000484559,;							MODERATE	311/5169	A104V	LY75_HUMAN			Transcript		benign(0.008)	.	ENSP00000263636		CCDS2211.1			1	
NRG4	0	LGGM	GRCh37	15	76303570	76303570	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	61	6	.	.	ENST00000394907.3:c.2T>C	p.Met1?	p.M1?	ENST00000394907	NM_138573.3	1	aTg/aCg	0	1	1	UPI0000038134	0	NA	ENST00000394907		ENSG00000169752	29862		67	0		HGNC	p.M1T		NRG4		SNV							ENST00000472094	protein_coding	getma.org/?cm=var&var=hg19,15,76303570,A,G&fts=all		hmmpanther:PTHR11100		M/T		G	NA	184/1159		http://getma.org/?cm=msa&ty=f&p=NRG4_HUMAN&rb=1&re=115&var=M1T	deleterious(0)	Q68D87_HUMAN,H3BP63_HUMAN			YES	NRG4,start_lost,p.Met1?,ENST00000394907,NM_138573.3;NRG4,start_lost,p.Met1?,ENST00000563910,;NRG4,start_lost,p.Met1?,ENST00000305435,;NRG4,start_lost,p.Met1?,ENST00000535975,;NRG4,upstream_gene_variant,,ENST00000568203,;NRG4,start_lost,p.Met1?,ENST00000461391,;NRG4,start_lost,p.Met1?,ENST00000472094,;NRG4,start_lost,p.Met1?,ENST00000565661,;NRG4,start_lost,p.Met1?,ENST00000562114,;NRG4,start_lost,p.Met1?,ENST00000568073,;NRG4,start_lost,p.Met1?,ENST00000567126,;NRG4,start_lost,p.Met1?,ENST00000563204,;NRG4,start_lost,p.Met1?,ENST00000566417,;NRG4,start_lost,p.Met1?,ENST00000567936,;NRG4,start_lost,p.Met1?,ENST00000498750,;							HIGH	2/348	M1T	NRG4_HUMAN			Transcript		probably_damaging(0.974)	.	ENSP00000378367		CCDS10288.1			1	
WDR3	0	LGGM	GRCh37	1	118479471	118479471	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	6	.	.	ENST00000349139.5:c.461A>T	p.Gln154Leu	p.Q154L	ENST00000349139	NM_006784.2	154	cAa/cTa	0	1	1	UPI0000138EDC	0	NA	ENST00000349139		ENSG00000065183	12755		54	2.035		HGNC	p.Q154L	rs759651416	WDR3	6.06E-05	SNV							ENST00000349139	protein_coding	getma.org/?cm=var&var=hg19,1,118479471,A,T&fts=all		Gene3D:2.130.10.10,Pfam_domain:PF00400,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19853,hmmpanther:PTHR19853:SF0,SMART_domains:SM00320,Superfamily_domains:SSF50978		Q/L		T	medium	508/9974		getma.org/?cm=msa&ty=f&p=WDR3_HUMAN&rb=140&re=177&var=Q154L	deleterious(0.05)	Q5TDG3_HUMAN,B3KMW5_HUMAN			YES	WDR3,missense_variant,p.Gln154Leu,ENST00000349139,NM_006784.2;WDR3,3_prime_UTR_variant,,ENST00000369441,;WDR3,non_coding_transcript_exon_variant,,ENST00000471680,;WDR3,non_coding_transcript_exon_variant,,ENST00000487202,;							MODERATE	461/2832	Q154L	WDR3_HUMAN			Transcript		benign(0.388)	.	ENSP00000308179	8.24E-06	CCDS898.1			1	
TRPM2	0	LGGM	GRCh37	21	45811314	45811314	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000397928.1:c.1600A>T	p.Ser534Cys	p.S534C	ENST00000397928	NM_003307.3	534	Agc/Tgc	0	1		UPI0000169D60	0	NA	ENST00000300482		ENSG00000142185	12339		26	0.6		HGNC	p.S534C		TRPM2		SNV							ENST00000300481	protein_coding	getma.org/?cm=var&var=hg19,21,45811314,A,T&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF2		S/C		T	neutral	1813/5989		getma.org/?cm=msa&ty=f&p=TRPM2_HUMAN&rb=401&re=600&var=S534C	tolerated(0.15)	C9JZQ8_HUMAN				TRPM2,missense_variant,p.Ser534Cys,ENST00000397928,NM_003307.3;TRPM2,missense_variant,p.Ser534Cys,ENST00000300482,;TRPM2,missense_variant,p.Ser534Cys,ENST00000300481,;TRPM2,missense_variant,p.Ser534Cys,ENST00000397932,;TRPM2,non_coding_transcript_exon_variant,,ENST00000498430,;							MODERATE	1600/4512	S534C	TRPM2_HUMAN			Transcript		benign(0.002)	.	ENSP00000300482		CCDS13710.1			1	
FARP1	0	LGGM	GRCh37	13	99091420	99091420	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	6	.	.	ENST00000319562.6:c.2403C>T	p.Val801=	p.V801=	ENST00000319562	NM_005766.2	801	gtC/gtT	0	1	1	UPI000007052C	0		ENST00000319562		ENSG00000152767	3591		41			HGNC	p.V801V	rs777724042	FARP1	6.44E-05	SNV							ENST00000319562	protein_coding			PROSITE_profiles:PS50003,hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105,Pfam_domain:PF00169,Gene3D:2.30.29.30,SMART_domains:SM00233,Superfamily_domains:SSF50729		V		T		2668/4855				M0QYB0_HUMAN			YES	FARP1,synonymous_variant,p.=,ENST00000376586,;FARP1,synonymous_variant,p.=,ENST00000595437,NM_001286839.1;FARP1,synonymous_variant,p.=,ENST00000319562,NM_005766.2;FARP1,synonymous_variant,p.=,ENST00000596256,;FARP1,downstream_gene_variant,,ENST00000423063,;FARP1-AS1,upstream_gene_variant,,ENST00000432229,;FARP1,downstream_gene_variant,,ENST00000597777,;							LOW	2403/3138		FARP1_HUMAN			Transcript			.	ENSP00000322926	8.24E-06	CCDS9487.1			1	
CDK2AP1	0	LGGM	GRCh37	12	123751797	123751797	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	6	.	.	ENST00000261692.2:c.88G>A	p.Ala30Thr	p.A30T	ENST00000261692	NM_004642.3	30	Gca/Aca	0	1	1	UPI000000164E	0	NA	ENST00000261692		ENSG00000111328	14002		14	1.59		HGNC	p.A2T		CDK2AP1		SNV							ENST00000544658	protein_coding	getma.org/?cm=var&var=hg19,12,123751797,C,T&fts=all		Pfam_domain:PF09806,PIRSF_domain:PIRSF037709,hmmpanther:PTHR22607,hmmpanther:PTHR22607:SF2		A/T		T	low	610/1625		getma.org/?cm=msa&ty=f&p=CDKA1_HUMAN&rb=6&re=115&var=A30T	tolerated(0.14)	F5GZF0_HUMAN			YES	CDK2AP1,missense_variant,p.Ala2Thr,ENST00000542174,;CDK2AP1,missense_variant,p.Ala30Thr,ENST00000261692,NM_004642.3,NM_001270434.1,NM_001270433.1;CDK2AP1,missense_variant,p.Ala2Thr,ENST00000535979,;CDK2AP1,missense_variant,p.Ala2Thr,ENST00000538446,;CDK2AP1,missense_variant,p.Ala2Thr,ENST00000544658,;CDK2AP1,missense_variant,p.Ala2Thr,ENST00000535796,;RP11-282O18.7,downstream_gene_variant,,ENST00000602352,;							MODERATE	88/348	A30T	CDKA1_HUMAN			Transcript		benign(0.403)	.	ENSP00000261692		CCDS9245.1			1	
UNC79	0	LGGM	GRCh37	14	94171008	94171008	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	6	.	.	ENST00000256339.4:c.7172T>A	p.Ile2391Asn	p.I2391N	ENST00000256339	NM_020818.3	2391	aTc/aAc	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		53	0		HGNC	p.I2529N		UNC79		SNV							ENST00000555664	protein_coding	getma.org/?cm=var&var=hg19,14,94171008,T,A&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1		I/N		A	neutral	7703/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=2001&re=2634&var=I2568N	tolerated(0.47)					UNC79,missense_variant,p.Ile2590Asn,ENST00000553484,;UNC79,missense_variant,p.Ile2529Asn,ENST00000555664,;UNC79,missense_variant,p.Ile2391Asn,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Ile2568Asn,ENST00000393151,;UNC79,non_coding_transcript_exon_variant,,ENST00000554549,;							MODERATE	7703/7908	I2568N	UNC79_HUMAN			Transcript		benign(0.036)	.	ENSP00000376858					1	
NDE1	0	LGGM	GRCh37	16	15771789	15771789	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	6	.	.	ENST00000396355.1:c.369C>T	p.Asp123=	p.D123=	ENST00000396355	NM_001143979.1	123	gaC/gaT	0	1	1	UPI0000073ECF	0		ENST00000396355		ENSG00000072864	17619		24			HGNC	p.D123D		NDE1		SNV			1				ENST00000396353	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10921,hmmpanther:PTHR10921:SF2		D		T		1195/3936				I3L3G9_HUMAN,I3L2S8_HUMAN			YES	NDE1,synonymous_variant,p.=,ENST00000396355,NM_001143979.1;NDE1,synonymous_variant,p.=,ENST00000396354,NM_017668.2;NDE1,synonymous_variant,p.=,ENST00000342673,;NDE1,synonymous_variant,p.=,ENST00000396353,;NDE1,synonymous_variant,p.=,ENST00000570727,;NDE1,synonymous_variant,p.=,ENST00000577101,;NDE1,synonymous_variant,p.=,ENST00000572756,;NDE1,3_prime_UTR_variant,,ENST00000573203,;NDE1,non_coding_transcript_exon_variant,,ENST00000574163,;							LOW	369/1008		NDE1_HUMAN			Transcript			.	ENSP00000379643		CCDS10564.1			1	
PLEKHA5	0	LGGM	GRCh37	12	19500003	19500003	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	6	.	.	ENST00000429027.2:c.2785C>T	p.Pro929Ser	p.P929S	ENST00000429027	NM_001256470.1	929	Cct/Tct	0	1		UPI0000040B78	0		ENST00000299275		ENSG00000052126	30036		44			HGNC	p.P826S		PLEKHA5		SNV							ENST00000317589	protein_coding							T		-/4238				F5H1X3_HUMAN,B4DMB9_HUMAN,A0JP02_HUMAN				PLEKHA5,missense_variant,p.Pro929Ser,ENST00000429027,NM_001256470.1;PLEKHA5,missense_variant,p.Pro826Ser,ENST00000317589,;PLEKHA5,missense_variant,p.Pro752Ser,ENST00000424268,;PLEKHA5,missense_variant,p.Pro745Ser,ENST00000543806,NM_001256787.1;PLEKHA5,missense_variant,p.Pro718Ser,ENST00000536974,;PLEKHA5,intron_variant,,ENST00000538714,NM_001143821.2;PLEKHA5,intron_variant,,ENST00000355397,;PLEKHA5,intron_variant,,ENST00000299275,NM_019012.5;PLEKHA5,intron_variant,,ENST00000359180,;PLEKHA5,intron_variant,,ENST00000539256,;PLEKHA5,intron_variant,,ENST00000538972,;PLEKHA5,downstream_gene_variant,,ENST00000538068,;							MODIFIER	-/3351		PKHA5_HUMAN			Transcript			.	ENSP00000299275		CCDS8682.1			1	
CTSE	0	LGGM	GRCh37	1	206318380	206318380	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	6	.	.	ENST00000358184.2:c.138G>A	p.Trp46Ter	p.W46*	ENST00000358184	NM_001910.3	46	tgG/tgA	0	1	1	UPI000000D9E4	0	NA	ENST00000358184		ENSG00000196188	2530		37	0		HGNC	p.W46X		CTSE		SNV							ENST00000361052	protein_coding	getma.org/?cm=var&var=hg19,1,206318380,G,A&fts=all		hmmpanther:PTHR13683,hmmpanther:PTHR13683:SF81,Pfam_domain:PF07966,Superfamily_domains:SSF50630		W/*		A	NA	256/2228		NA					YES	CTSE,stop_gained,p.Trp46Ter,ENST00000361052,;CTSE,stop_gained,p.Trp46Ter,ENST00000358184,NM_001910.3;CTSE,stop_gained,p.Trp46Ter,ENST00000360218,NM_148964.2;CTSE,intron_variant,,ENST00000432969,;CTSE,upstream_gene_variant,,ENST00000468617,;							HIGH	138/1191	W46*	CATE_HUMAN			Transcript			.	ENSP00000350911		CCDS1462.1			1	
AEBP1	0	LGGM	GRCh37	7	44153462	44153462	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	6	.	.	ENST00000223357.3:c.3079C>A	p.Leu1027Met	p.L1027M	ENST00000223357	NM_001129.4	1027	Ctg/Atg	0	1	1	UPI00000746E2	0	NA	ENST00000223357		ENSG00000106624	303		31	0.695		HGNC	p.L602M	COSM601264	AEBP1		SNV						1	ENST00000450684	protein_coding	getma.org/?cm=var&var=hg19,7,44153462,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11532:SF48,hmmpanther:PTHR11532		L/M		A	neutral	3384/4081		getma.org/?cm=msa&ty=f&p=AEBP1_HUMAN&rb=1011&re=1079&var=L1027M	tolerated_low_confidence(0.22)	B4DJB3_HUMAN			YES	AEBP1,missense_variant,p.Leu1027Met,ENST00000223357,NM_001129.4;AEBP1,missense_variant,p.Leu602Met,ENST00000450684,;POLD2,downstream_gene_variant,,ENST00000406581,NM_001256879.1;POLD2,downstream_gene_variant,,ENST00000452185,NM_006230.3,NM_001127218.2;POLD2,downstream_gene_variant,,ENST00000223361,;POLD2,downstream_gene_variant,,ENST00000436844,;POLD2,downstream_gene_variant,,ENST00000433715,;AEBP1,downstream_gene_variant,,ENST00000455443,;POLD2,downstream_gene_variant,,ENST00000456038,;POLD2,downstream_gene_variant,,ENST00000418438,;POLD2,downstream_gene_variant,,ENST00000436400,;MIR4649,downstream_gene_variant,,ENST00000582839,;AEBP1,downstream_gene_variant,,ENST00000454218,;AEBP1,3_prime_UTR_variant,,ENST00000413907,;AEBP1,downstream_gene_variant,,ENST00000431035,;POLD2,downstream_gene_variant,,ENST00000463464,;POLD2,downstream_gene_variant,,ENST00000470867,;AEBP1,downstream_gene_variant,,ENST00000453052,;AEBP1,downstream_gene_variant,,ENST00000434445,;POLD2,downstream_gene_variant,,ENST00000464871,;POLD2,downstream_gene_variant,,ENST00000496539,;POLD2,downstream_gene_variant,,ENST00000481104,;POLD2,downstream_gene_variant,,ENST00000489883,;POLD2,downstream_gene_variant,,ENST00000467469,;POLD2,downstream_gene_variant,,ENST00000461116,;					1		MODERATE	3079/3477	L1027M	AEBP1_HUMAN			Transcript		possibly_damaging(0.665)	.	ENSP00000223357		CCDS5476.1			1	
PEG3	0	LGGM	GRCh37	19	57328735	57328735	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	6	.	.	ENST00000326441.9:c.1075T>C	p.Ser359Pro	p.S359P	ENST00000326441	NM_006210.2	359	Tca/Cca	0	1	1	UPI000006D36D	0	NA	ENST00000326441		ENSG00000198300	8826		53	0.975		HGNC	p.S359P		PEG3		SNV							ENST00000599577	protein_coding	getma.org/?cm=var&var=hg19,19,57328735,A,G&fts=all		hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78		S/P		G	low	1439/8723		getma.org/?cm=msa&ty=f&p=PEG3_HUMAN&rb=332&re=450&var=S359P	tolerated(0.07)	M0QXG1_HUMAN			YES	PEG3,missense_variant,p.Ser359Pro,ENST00000326441,NM_006210.2;PEG3,missense_variant,p.Ser359Pro,ENST00000423103,NM_001146184.1;PEG3,missense_variant,p.Ser235Pro,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,missense_variant,p.Ser359Pro,ENST00000599534,NM_001146186.1;PEG3,missense_variant,p.Ser359Pro,ENST00000599577,;PEG3,missense_variant,p.Ser233Pro,ENST00000593695,;PEG3,missense_variant,p.Ser204Pro,ENST00000600833,;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,;ZIM2,intron_variant,,ENST00000595671,;ZIM2,intron_variant,,ENST00000597281,;							MODERATE	1075/4767	S359P	PEG3_HUMAN			Transcript		benign(0.374)	.	ENSP00000326581		CCDS12948.1			1	
OGFOD3	0	LGGM	GRCh37	17	80373423	80373423	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	6	.	.	ENST00000329197.5:c.155G>A	p.Gly52Asp	p.G52D	ENST00000329197		52	gGc/gAc	0	1		UPI0000071320	0	NA	ENST00000313056		ENSG00000181396	26174		28	0		HGNC	p.G52D		OGFOD3		SNV							ENST00000313056	protein_coding	getma.org/?cm=var&var=hg19,17,80373423,C,T&fts=all		hmmpanther:PTHR14650,hmmpanther:PTHR14650:SF1,Transmembrane_helices:TMhelix		G/D		T	neutral	307/4287		getma.org/?cm=msa&ty=f&p=CQ101_HUMAN&rb=1&re=200&var=G52D	tolerated(0.19)					OGFOD3,missense_variant,p.Gly52Asp,ENST00000313056,NM_024648.2,NM_175902.4;OGFOD3,missense_variant,p.Gly52Asp,ENST00000329197,;OGFOD3,5_prime_UTR_variant,,ENST00000577495,;HEXDC,upstream_gene_variant,,ENST00000337014,NM_173620.2;HEXDC,upstream_gene_variant,,ENST00000577944,;HEXDC,upstream_gene_variant,,ENST00000327949,;OGFOD3,upstream_gene_variant,,ENST00000583897,;HEXDC,upstream_gene_variant,,ENST00000580235,;Y_RNA,upstream_gene_variant,,ENST00000364369,;OGFOD3,non_coding_transcript_exon_variant,,ENST00000577606,;OGFOD3,missense_variant,p.Gly52Asp,ENST00000580445,;HEXDC,upstream_gene_variant,,ENST00000582315,;OGFOD3,upstream_gene_variant,,ENST00000579407,;HEXDC,upstream_gene_variant,,ENST00000583978,;HEXDC,upstream_gene_variant,,ENST00000581482,;							MODERATE	155/960	G52D	OGFD3_HUMAN			Transcript		benign(0.032)	.	ENSP00000320116		CCDS11811.1			1	
SLC1A2	0	LGGM	GRCh37	11	35327695	35327695	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	6	.	.	ENST00000278379.3:c.656T>C	p.Val219Ala	p.V219A	ENST00000278379	NM_004171.3	219	gTg/gCg	0	1	1	UPI0000129B12	0	getma.org/pdb.php?prot=EAA2_HUMAN&from=46&to=496&var=V219A	ENST00000278379		ENSG00000110436	10940		45	0.75		HGNC	p.V210A		SLC1A2		SNV							ENST00000395753	protein_coding	getma.org/?cm=var&var=hg19,11,35327695,A,G&fts=all		Pfam_domain:PF00375,hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF43		V/A		G	neutral	939/11696		getma.org/?cm=msa&ty=f&p=EAA2_HUMAN&rb=46&re=496&var=V219A	tolerated(0.56)	A2A2U1_HUMAN			YES	SLC1A2,missense_variant,p.Val219Ala,ENST00000278379,NM_004171.3;SLC1A2,missense_variant,p.Val210Ala,ENST00000395753,NM_001252652.1;SLC1A2,missense_variant,p.Val210Ala,ENST00000395750,NM_001195728.2;SLC1A2,missense_variant,p.Val219Ala,ENST00000606205,;SLC1A2,downstream_gene_variant,,ENST00000449068,;SLC1A2,upstream_gene_variant,,ENST00000531628,;							MODERATE	656/1725	V219A	EAA2_HUMAN			Transcript		benign(0.002)	.	ENSP00000278379		CCDS31459.1			1	
PLXNA4	0	LGGM	GRCh37	7	132193243	132193243	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	6	.	.	ENST00000359827.3:c.210G>A	p.Arg70=	p.R70=	ENST00000359827		70	cgG/cgA	0	1		UPI000004E55B	0		ENST00000321063		ENSG00000221866	9102		48			HGNC	p.R70R		PLXNA4		SNV							ENST00000378539	protein_coding			PROSITE_profiles:PS51004,hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Pfam_domain:PF01403,Gene3D:2.130.10.10,SMART_domains:SM00630,Superfamily_domains:SSF101912		R		T		439/13061								PLXNA4,synonymous_variant,p.=,ENST00000359827,;PLXNA4,synonymous_variant,p.=,ENST00000321063,NM_020911.1;PLXNA4,synonymous_variant,p.=,ENST00000423507,NM_001105543.1;PLXNA4,synonymous_variant,p.=,ENST00000378539,NM_181775.3;							LOW	210/5685		PLXA4_HUMAN			Transcript			.	ENSP00000323194		CCDS43646.1			1	
SEMA3G	0	LGGM	GRCh37	3	52469962	52469962	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000231721.2:c.2006T>C	p.Leu669Pro	p.L669P	ENST00000231721	NM_020163.1	669	cTg/cCg	0	1	1	UPI000004250D	0	NA	ENST00000231721		ENSG00000010319	30400		26	2.08		HGNC	p.L669P		SEMA3G		SNV							ENST00000231721	protein_coding	getma.org/?cm=var&var=hg19,3,52469962,A,G&fts=all		hmmpanther:PTHR11036,hmmpanther:PTHR11036:SF20,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		L/P		G	medium	2006/4899		getma.org/?cm=msa&ty=f&p=SEM3G_HUMAN&rb=569&re=671&var=L669P	deleterious(0)				YES	SEMA3G,missense_variant,p.Leu669Pro,ENST00000231721,NM_020163.1;SEMA3G,downstream_gene_variant,,ENST00000465657,;							MODERATE	2006/2349	L669P	SEM3G_HUMAN			Transcript		possibly_damaging(0.602)	.	ENSP00000231721		CCDS2856.1			1	
C14orf79	0	LGGM	GRCh37	14	105455281	105455281	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	6	.	.	ENST00000547315.1:c.425C>T	p.Pro142Leu	p.P142L	ENST00000547315	NM_174891.3	142	cCc/cTc	0	1	1	UPI0000DACAC2	0	NA	ENST00000547315		ENSG00000140104	20126		40	0.145		HGNC	p.P142L		C14orf79		SNV							ENST00000548641	protein_coding	getma.org/?cm=var&var=hg19,14,105455281,C,T&fts=all		hmmpanther:PTHR16156,hmmpanther:PTHR16156:SF7		P/L		T	neutral	1064/2370		getma.org/?cm=msa&ty=f&p=CN079_HUMAN&rb=59&re=323&var=P142L	tolerated(0.42)	J3KRA4_HUMAN,F8VUA8_HUMAN			YES	C14orf79,missense_variant,p.Pro142Leu,ENST00000547315,NM_174891.3;C14orf79,missense_variant,p.Pro36Leu,ENST00000551606,;C14orf79,upstream_gene_variant,,ENST00000549240,;C14orf79,upstream_gene_variant,,ENST00000550614,;C14orf79,splice_region_variant,,ENST00000549584,;C14orf79,upstream_gene_variant,,ENST00000548178,;C14orf79,missense_variant,p.Pro142Leu,ENST00000389964,;C14orf79,missense_variant,p.Pro142Leu,ENST00000548641,;C14orf79,splice_region_variant,,ENST00000551046,;							MODERATE	425/978	P142L	CN079_HUMAN			Transcript		benign(0.002)	.	ENSP00000450114		CCDS42000.1			1	
ATP8B2	0	LGGM	GRCh37	1	154318830	154318830	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	6	.	.	ENST00000368489.3:c.3001A>G	p.Met1001Val	p.M1001V	ENST00000368489	NM_020452.3	1001	Atg/Gtg	0	1	1	UPI00001B92AB	0	NA	ENST00000368489		ENSG00000143515	13534		42	-1.025		HGNC	p.M1001V		ATP8B2		SNV							ENST00000368489	protein_coding	getma.org/?cm=var&var=hg19,1,154318830,A,G&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24092:SF47,hmmpanther:PTHR24092,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		M/V		G	neutral	3001/5861		getma.org/?cm=msa&ty=f&p=AT8B2_HUMAN&rb=843&re=1042&var=M987V	deleterious(0.04)	Q6P3T1_HUMAN			YES	ATP8B2,missense_variant,p.Met1001Val,ENST00000368489,NM_020452.3;ATP8B2,downstream_gene_variant,,ENST00000341822,;ATP8B2,downstream_gene_variant,,ENST00000426445,;ATP8B2,upstream_gene_variant,,ENST00000505882,;							MODERATE	3001/3672	M987V	AT8B2_HUMAN			Transcript		benign(0.049)	.	ENSP00000357475		CCDS1066.1			1	
PML	0	LGGM	GRCh37	15	74328139	74328139	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	57	6	.	.	ENST00000268058.3:c.1710+1268A>T		*570*	ENST00000268058	NM_033238.2			0	1	1	UPI000013D78F	0		ENST00000268058		ENSG00000140464	9113		63			HGNC	p.A731A		PML		SNV			1				ENST00000354026	protein_coding							T		-/4508				Q9UE85_HUMAN,Q05835_HUMAN			YES	PML,synonymous_variant,p.=,ENST00000268059,NM_033239.2,NM_033244.3;PML,synonymous_variant,p.=,ENST00000354026,NM_033250.2;PML,3_prime_UTR_variant,,ENST00000563500,;PML,3_prime_UTR_variant,,ENST00000435786,NM_033240.2;PML,3_prime_UTR_variant,,ENST00000436891,;PML,3_prime_UTR_variant,,ENST00000562086,;PML,3_prime_UTR_variant,,ENST00000567606,;PML,intron_variant,,ENST00000565898,;PML,intron_variant,,ENST00000268058,NM_033238.2;PML,intron_variant,,ENST00000395135,NM_002675.3;PML,intron_variant,,ENST00000569965,;PML,intron_variant,,ENST00000564428,NM_033249.2;PML,intron_variant,,ENST00000395132,NM_033247.2;PML,intron_variant,,ENST00000359928,NM_033246.2;PML,intron_variant,,ENST00000565239,;PML,downstream_gene_variant,,ENST00000569477,;PML,downstream_gene_variant,,ENST00000567543,;PML,downstream_gene_variant,,ENST00000566068,;PML,downstream_gene_variant,,ENST00000569161,;PML,downstream_gene_variant,,ENST00000570213,;							MODIFIER	-/2649		PML_HUMAN			Transcript			.	ENSP00000268058		CCDS10255.1			1	
CA7	0	LGGM	GRCh37	16	66881013	66881013	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000338437.2:c.121G>A	p.Val41Met	p.V41M	ENST00000338437	NM_005182.2	41	Gtg/Atg	0	1	1	UPI000000D814	0	getma.org/pdb.php?prot=CAH7_HUMAN&from=7&to=262&var=V41M	ENST00000338437		ENSG00000168748	1381		26	2.675		HGNC	p.V41M		CA7		SNV							ENST00000338437	protein_coding	getma.org/?cm=var&var=hg19,16,66881013,G,A&fts=all		Gene3D:3.10.200.10,Pfam_domain:PF00194,PROSITE_profiles:PS51144,hmmpanther:PTHR18952,hmmpanther:PTHR18952:SF26,SMART_domains:SM01057,Superfamily_domains:SSF51069		V/M		A	medium	230/1555		getma.org/?cm=msa&ty=f&p=CAH7_HUMAN&rb=7&re=262&var=V41M	tolerated(0.08)				YES	CA7,missense_variant,p.Val41Met,ENST00000338437,NM_005182.2;CA7,5_prime_UTR_variant,,ENST00000394069,NM_001014435.1;NAE1,intron_variant,,ENST00000561579,;RP11-61A14.1,intron_variant,,ENST00000551187,;CA7,5_prime_UTR_variant,,ENST00000548332,;							MODERATE	121/795	V41M	CAH7_HUMAN			Transcript		possibly_damaging(0.809)	.	ENSP00000345659		CCDS10821.1			1	
IQCF5	0	LGGM	GRCh37	3	51907905	51907905	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	6	.	.	ENST00000446461.1:c.291C>A	p.Ile97=	p.I97=	ENST00000446461	NM_001145059.1	97	atC/atA	0	1	1	UPI00002377DA	0		ENST00000446461		ENSG00000214681	35159		41			HGNC	p.I97I		IQCF5		SNV							ENST00000446461	protein_coding			hmmpanther:PTHR21633		I		T		344/512							YES	IQCF5,synonymous_variant,p.=,ENST00000446461,NM_001145059.1;IQCF5-AS1,non_coding_transcript_exon_variant,,ENST00000440723,;RN7SL504P,downstream_gene_variant,,ENST00000494496,;							LOW	291/447		IQCF5_HUMAN			Transcript			.	ENSP00000394653		CCDS46838.1			1	
TBL1X	0	LGGM	GRCh37	X	9673036	9673036	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	6	.	.	ENST00000217964.7:c.1118C>T	p.Pro373Leu	p.P373L	ENST00000217964	NM_005647.3	373	cCt/cTt	0	1	1	UPI0000161FAF	0	NA	ENST00000217964		ENSG00000101849	11585		33	2.91		HGNC	p.P373L		TBL1X		SNV							ENST00000407597	protein_coding	getma.org/?cm=var&var=hg19,X,9673036,C,T&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22846,hmmpanther:PTHR22846:SF36,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		P/L		T	medium	1758/5866		getma.org/?cm=msa&ty=f&p=TBL1X_HUMAN&rb=361&re=397&var=P373L	deleterious(0)	C9JYQ8_HUMAN,C9JP56_HUMAN,C9JCW3_HUMAN,C9J5F9_HUMAN			YES	TBL1X,missense_variant,p.Pro373Leu,ENST00000217964,NM_005647.3;TBL1X,missense_variant,p.Pro373Leu,ENST00000407597,NM_001139466.1;TBL1X,missense_variant,p.Pro322Leu,ENST00000424279,NM_001139467.1;TBL1X,missense_variant,p.Pro322Leu,ENST00000380961,NM_001139468.1;TBL1X,missense_variant,p.Pro322Leu,ENST00000536365,;							MODERATE	1118/1734	P373L	TBL1X_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000217964		CCDS14133.1			1	
CTTN	0	LGGM	GRCh37	11	70269050	70269050	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	6	.	.	ENST00000376561.3:c.795C>T	p.Tyr265=	p.Y265=	ENST00000376561	NM_001184740.1	265	taC/taT	0	1		UPI000013D657	0		ENST00000301843		ENSG00000085733	3338		22			HGNC	p.T32I		CTTN		SNV							ENST00000393747	protein_coding			PROSITE_profiles:PS51090,hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF15,Pfam_domain:PF02218		Y		T		1112/3272				Q76MU0_HUMAN,E9PP90_HUMAN,E9PKG3_HUMAN				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,5_prime_UTR_variant,,ENST00000538675,;CTTN,5_prime_UTR_variant,,ENST00000527962,;CTTN,5_prime_UTR_variant,,ENST00000498223,;CTTN,downstream_gene_variant,,ENST00000415461,;CTTN,missense_variant,p.Thr32Ile,ENST00000393747,;CTTN,non_coding_transcript_exon_variant,,ENST00000525852,;CTTN,downstream_gene_variant,,ENST00000483662,;CTTN,downstream_gene_variant,,ENST00000532334,;							LOW	906/1653		SRC8_HUMAN			Transcript			.	ENSP00000301843		CCDS41680.1			1	
ACTN4	0	LGGM	GRCh37	19	39219931	39219931	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	6	.	.	ENST00000252699.2:c.2595G>A	p.Glu865=	p.E865=	ENST00000252699	NM_004924.4	865	gaG/gaA	0	1	1	UPI0000125093	0		ENST00000252699		ENSG00000130402	166		13			HGNC	p.E865E		ACTN4		SNV			1				ENST00000252699	protein_coding			Gene3D:1.10.238.10,Pfam_domain:PF08726,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF271,Superfamily_domains:SSF47473		E		A		2671/4963				Q96BG6_HUMAN			YES	ACTN4,synonymous_variant,p.=,ENST00000252699,NM_004924.4;ACTN4,synonymous_variant,p.=,ENST00000440400,;ACTN4,synonymous_variant,p.=,ENST00000390009,;ACTN4,synonymous_variant,p.=,ENST00000424234,;ACTN4,intron_variant,,ENST00000589528,;CAPN12,downstream_gene_variant,,ENST00000328867,NM_144691.3;CAPN12,downstream_gene_variant,,ENST00000601953,;CAPN12,downstream_gene_variant,,ENST00000597987,;CAPN12,downstream_gene_variant,,ENST00000595177,;ACTN4,non_coding_transcript_exon_variant,,ENST00000497637,;ACTN4,non_coding_transcript_exon_variant,,ENST00000477174,;CAPN12,downstream_gene_variant,,ENST00000601685,;CAPN12,downstream_gene_variant,,ENST00000597716,;CAPN12,downstream_gene_variant,,ENST00000593700,;CAPN12,downstream_gene_variant,,ENST00000594552,;CAPN12,downstream_gene_variant,,ENST00000597354,;							LOW	2595/2736		ACTN4_HUMAN			Transcript			.	ENSP00000252699		CCDS12518.1			1	
EYS	0	LGGM	GRCh37	6	65596711	65596711	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	6	.	.	ENST00000503581.1:c.2871G>A	p.Glu957=	p.E957=	ENST00000503581	NM_001142800.1	957	gaG/gaA	0	1		UPI0001AE72B3	0		ENST00000370616		ENSG00000188107	21555		41			HGNC	p.E957E		EYS		SNV			1				ENST00000503581	protein_coding			Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,Pfam_domain:PF00008,PROSITE_patterns:PS00022,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65,PROSITE_profiles:PS50026		E		T		2871/9498								EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,;EYS,synonymous_variant,p.=,ENST00000370616,;							LOW	2871/9498		EYS_HUMAN			Transcript			.	ENSP00000359650					1	
SORCS1	0	LGGM	GRCh37	10	108923886	108923886	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	6	.	.	ENST00000344440.6:c.399A>C	p.Arg133Ser	p.R133S	ENST00000344440	NM_001206571.1	133	agA/agC	0	1		UPI00001AE866	0	NA	ENST00000263054		ENSG00000108018	16697		35	0		HGNC	p.R133S		SORCS1		SNV							ENST00000263054	protein_coding	getma.org/?cm=var&var=hg19,10,108923886,T,G&fts=all		hmmpanther:PTHR12106,hmmpanther:PTHR12106:SF8		R/S		G	neutral	407/7272		getma.org/?cm=msa&ty=f&p=SORC1_HUMAN&rb=1&re=200&var=R133S	tolerated_low_confidence(0.17)					SORCS1,missense_variant,p.Arg133Ser,ENST00000263054,NM_001206570.1,NM_052918.4;SORCS1,missense_variant,p.Arg133Ser,ENST00000344440,NM_001206571.1,NM_001206569.1,NM_001013031.2,NM_001206572.1;							MODERATE	399/3507	R133S	SORC1_HUMAN			Transcript		benign(0.001)	.	ENSP00000263054		CCDS7559.1			1	
PCDHGA2	0	LGGM	GRCh37	5	140719314	140719314	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	6	.	.	ENST00000394576.2:c.776C>T	p.Thr259Ile	p.T259I	ENST00000394576	NM_018915.2	259	aCc/aTc	0	1	1	UPI0000072E67	0	getma.org/pdb.php?prot=PCDG2_HUMAN&from=247&to=338&var=T259I	ENST00000394576		ENSG00000081853	8700		66	3.435		HGNC	p.T259I		PCDHGA2		SNV							ENST00000394576	protein_coding	getma.org/?cm=var&var=hg19,5,140719314,C,T&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF109,Superfamily_domains:SSF49313		T/I		T	medium	776/4605		getma.org/?cm=msa&ty=f&p=PCDG2_HUMAN&rb=247&re=338&var=T259I	deleterious_low_confidence(0.01)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA2,missense_variant,p.Thr259Ile,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,;							MODERATE	776/2799	T259I	PCDG2_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000378077		CCDS47289.1			1	
HYAL2	0	LGGM	GRCh37	3	50357069	50357069	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	6	.	.	ENST00000447092.1:c.852C>T	p.Ala284=	p.A284=	ENST00000447092		284	gcC/gcT	0	1		UPI000013C4E6	0		ENST00000357750		ENSG00000068001	5321		17			HGNC	p.A284A		HYAL2		SNV							ENST00000442581	protein_coding			hmmpanther:PTHR11769:SF6,hmmpanther:PTHR11769,Pfam_domain:PF01630,Gene3D:3.20.20.70,PIRSF_domain:PIRSF038193,Superfamily_domains:SSF51445		A		A		1152/2055				Q5ZF00_HUMAN,C9K016_HUMAN,C9JSI7_HUMAN,C9JSD1_HUMAN,C9JBF5_HUMAN,C9J700_HUMAN				HYAL2,synonymous_variant,p.=,ENST00000447092,;HYAL2,synonymous_variant,p.=,ENST00000442581,NM_033158.4;HYAL2,synonymous_variant,p.=,ENST00000395139,;HYAL2,synonymous_variant,p.=,ENST00000357750,NM_003773.4;HYAL2,downstream_gene_variant,,ENST00000458018,;HYAL2,downstream_gene_variant,,ENST00000428028,;HYAL2,downstream_gene_variant,,ENST00000424190,;HYAL2,downstream_gene_variant,,ENST00000426286,;HYAL2,downstream_gene_variant,,ENST00000415028,;TUSC2,downstream_gene_variant,,ENST00000462137,;HYAL2,non_coding_transcript_exon_variant,,ENST00000481597,;							LOW	852/1422		HYAL2_HUMAN			Transcript			.	ENSP00000350387		CCDS2818.1			1	
ORC2	0	LGGM	GRCh37	2	201800586	201800586	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	6	.	.	ENST00000234296.2:c.544G>T	p.Glu182Ter	p.E182*	ENST00000234296	NM_006190.4	182	Gaa/Taa	0	1	1	UPI0000130E5A	0	NA	ENST00000234296		ENSG00000115942	8488		32	0		HGNC	p.E182X	COSM572997	ORC2		SNV						1	ENST00000234296	protein_coding	getma.org/?cm=var&var=hg19,2,201800586,C,A&fts=all		hmmpanther:PTHR14052,hmmpanther:PTHR14052:SF0,Low_complexity_(Seg):seg		E/*		A	NA	794/4312		NA		C9JK08_HUMAN,B8ZZ80_HUMAN			YES	ORC2,stop_gained,p.Glu182Ter,ENST00000234296,NM_006190.4;ORC2,non_coding_transcript_exon_variant,,ENST00000474877,;					1		HIGH	544/1734	E182*	ORC2_HUMAN			Transcript			.	ENSP00000234296		CCDS2334.1			1	
SLC36A1	0	LGGM	GRCh37	5	150844131	150844131	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	6	.	.	ENST00000243389.3:c.291C>T	p.Ile97=	p.I97=	ENST00000243389	NM_078483.2	97	atC/atT	0	1	1	UPI00001A9D3C	0		ENST00000243389		ENSG00000123643	18761		31			HGNC	p.I97I		SLC36A1		SNV							ENST00000520111	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR22950:SF188,hmmpanther:PTHR22950,Pfam_domain:PF01490		I		T		514/5781				H0YB60_HUMAN,E5RI40_HUMAN,E5RHG5_HUMAN,E5RG64_HUMAN,D2Y3F6_HUMAN			YES	SLC36A1,synonymous_variant,p.=,ENST00000243389,NM_078483.2;SLC36A1,synonymous_variant,p.=,ENST00000520701,;SLC36A1,synonymous_variant,p.=,ENST00000521925,;SLC36A1,synonymous_variant,p.=,ENST00000429484,;SLC36A1,synonymous_variant,p.=,ENST00000520111,;SLC36A1,downstream_gene_variant,,ENST00000517945,;SLC36A1,downstream_gene_variant,,ENST00000519829,;SLC36A1,non_coding_transcript_exon_variant,,ENST00000521351,;							LOW	291/1431		S36A1_HUMAN			Transcript			.	ENSP00000243389		CCDS4316.1			1	
IGF2R	0	LGGM	GRCh37	6	160454092	160454092	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	6	.	.	ENST00000356956.1:c.1164T>C	p.Asp388=	p.D388=	ENST00000356956	NM_000876.2	388	gaT/gaC	0	1	1	UPI0000072478	0		ENST00000356956		ENSG00000197081	5467		68			HGNC	p.D388D		IGF2R		SNV							ENST00000356956	protein_coding			hmmpanther:PTHR10439:SF4,hmmpanther:PTHR10439,Gene3D:2.70.130.10,Pfam_domain:PF00878,Superfamily_domains:SSF50911		D		C		1312/9091				A0N9R7_HUMAN,A0N9R6_HUMAN			YES	IGF2R,synonymous_variant,p.=,ENST00000356956,NM_000876.2;							LOW	1164/7476		MPRI_HUMAN			Transcript			.	ENSP00000349437		CCDS5273.1			1	
SERPINI2	0	LGGM	GRCh37	3	167183417	167183417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	6	.	.	ENST00000476257.1:c.523A>T	p.Thr175Ser	p.T175S	ENST00000476257	NM_006217.4	175	Act/Tct	0	1		UPI0000135E26	0	getma.org/pdb.php?prot=SPI2_HUMAN&from=24&to=392&var=T175S	ENST00000264677		ENSG00000114204	8945		44	2.36		HGNC	p.T175S		SERPINI2		SNV							ENST00000476257	protein_coding	getma.org/?cm=var&var=hg19,3,167183417,T,A&fts=all		hmmpanther:PTHR11461:SF51,hmmpanther:PTHR11461,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		T/S		A	medium	561/1430		getma.org/?cm=msa&ty=f&p=SPI2_HUMAN&rb=24&re=392&var=T175S	tolerated(0.09)	C9J7N5_HUMAN				SERPINI2,missense_variant,p.Thr175Ser,ENST00000476257,NM_006217.4;SERPINI2,missense_variant,p.Thr175Ser,ENST00000461846,NM_001012303.2;SERPINI2,missense_variant,p.Thr175Ser,ENST00000264677,;SERPINI2,missense_variant,p.Thr175Ser,ENST00000471111,;SERPINI2,missense_variant,p.Thr175Ser,ENST00000466903,;SERPINI2,downstream_gene_variant,,ENST00000467583,;SERPINI2,downstream_gene_variant,,ENST00000465031,;							MODERATE	523/1218	T175S	SPI2_HUMAN			Transcript		probably_damaging(0.958)	.	ENSP00000264677		CCDS3200.1			1	
INSC	0	LGGM	GRCh37	11	15247266	15247266	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	6	.	.	ENST00000379554.3:c.1203C>T	p.Phe401=	p.F401=	ENST00000379554	NM_001031853.4	401	ttC/ttT	0	1	1	UPI0000D63F1D	0		ENST00000379554		ENSG00000188487	33116		16			HGNC	p.F354F		INSC		SNV							ENST00000530161	protein_coding			hmmpanther:PTHR21386,hmmpanther:PTHR21386:SF0,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		F		T		1249/2954							YES	INSC,synonymous_variant,p.=,ENST00000379554,NM_001031853.4;INSC,synonymous_variant,p.=,ENST00000379556,NM_001042536.2;INSC,synonymous_variant,p.=,ENST00000424273,;INSC,synonymous_variant,p.=,ENST00000528567,NM_001278315.1;INSC,synonymous_variant,p.=,ENST00000530161,NM_001278313.1,NM_001278314.1;INSC,synonymous_variant,p.=,ENST00000525218,NM_001278316.1;INSC,non_coding_transcript_exon_variant,,ENST00000447214,;							LOW	1203/1740		INSC_HUMAN			Transcript			.	ENSP00000368872		CCDS41621.1			1	
ZNF460	0	LGGM	GRCh37	19	57802770	57802770	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	6	.	.	ENST00000360338.3:c.861G>A	p.Lys287=	p.K287=	ENST00000360338	NM_006635.3	287	aaG/aaA	0	1	1	UPI0000202D11	0		ENST00000360338		ENSG00000197714	21628		62			HGNC	p.K246K	rs761225782	ZNF460		SNV							ENST00000537645	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF15,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		K		A		1183/3350	1.50E-05			M0R0J6_HUMAN,B4DNX9_HUMAN			YES	ZNF460,synonymous_variant,p.=,ENST00000360338,NM_006635.3;ZNF460,synonymous_variant,p.=,ENST00000537645,;ZNF460,downstream_gene_variant,,ENST00000599602,;							LOW	861/1689		ZN460_HUMAN			Transcript			.	ENSP00000353491	8.24E-06	CCDS12949.1			1	
LILRA6	0	LGGM	GRCh37	19	54744246	54744246	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	6	.	.	ENST00000396365.2:c.1162T>A	p.Ser388Thr	p.S388T	ENST00000396365	NM_024318.2	388	Tca/Aca	0	1	1	UPI000022A9CA	0	getma.org/pdb.php?prot=LIRA6_HUMAN&from=324&to=401&var=S388T	ENST00000396365		ENSG00000244482	15495		48	2.36		HGNC	p.S388T		LILRA6		SNV							ENST00000396365	protein_coding	getma.org/?cm=var&var=hg19,19,54744246,A,T&fts=all		Superfamily_domains:SSF48726,PIRSF_domain:PIRSF001979,SMART_domains:SM00409,SMART_domains:SM00408,Pfam_domain:PF13927,Gene3D:2.60.40.10,hmmpanther:PTHR11738:SF99,hmmpanther:PTHR11738		S/T		T	medium	1202/1890		getma.org/?cm=msa&ty=f&p=LIRA6_HUMAN&rb=324&re=401&var=S388T	deleterious(0.04)				YES	LILRA6,missense_variant,p.Ser388Thr,ENST00000419410,;LILRA6,missense_variant,p.Ser388Thr,ENST00000396365,NM_024318.2;LILRA6,missense_variant,p.Ser388Thr,ENST00000245621,;LILRA6,3_prime_UTR_variant,,ENST00000391735,;LILRA6,intron_variant,,ENST00000440558,;LILRB3,intron_variant,,ENST00000407860,;LILRA6,intron_variant,,ENST00000270464,;LILRA6,3_prime_UTR_variant,,ENST00000430421,;RPS9,intron_variant,,ENST00000448962,;LILRA6,downstream_gene_variant,,ENST00000474697,;							MODERATE	1162/1446	S388T	LIRA6_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000379651		CCDS42610.1			1	
URGCP	0	LGGM	GRCh37	7	43916908	43916908	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000453200.1:c.2154C>T	p.Ala718=	p.A718=	ENST00000453200		718	gcC/gcT	0	1	1	UPI000020EE9D	0		ENST00000453200		ENSG00000106608	30890		26			HGNC	p.A709A		URGCP		SNV							ENST00000402306	protein_coding			PROSITE_profiles:PS51717,hmmpanther:PTHR22796,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		A		A		2648/4042				C9JKA8_HUMAN,C9J0W2_HUMAN			YES	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,;							LOW	2154/2796		URGCP_HUMAN			Transcript			.	ENSP00000396918		CCDS47578.1			1	
ZNF729	0	LGGM	GRCh37	19	22497096	22497096	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	6	.	.	ENST00000601693.1:c.877A>T	p.Lys293Ter	p.K293*	ENST00000601693		293	Aaa/Taa	0	1	1	UPI000042600C	0	NA	ENST00000601693		ENSG00000196350	32464		43	0		HGNC	p.K293X		ZNF729		SNV							ENST00000357491	protein_coding	getma.org/?cm=var&var=hg19,19,22497096,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/*		T	NA	995/3877		NA		M0QY45_HUMAN			YES	ZNF729,stop_gained,p.Lys293Ter,ENST00000601693,;ZNF729,stop_gained,p.Lys293Ter,ENST00000357491,NM_001242680.1;							HIGH	877/3759	K293*				Transcript			.	ENSP00000469582		CCDS59368.1			1	
TAS1R1	0	LGGM	GRCh37	1	6637098	6637098	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	6	.	.	ENST00000333172.6:c.1562C>T	p.Pro521Leu	p.P521L	ENST00000333172	NM_138697.3	521	cCc/cTc	0	1	1	UPI000004737B	0	NA	ENST00000333172		ENSG00000173662	14448		16	1.375		HGNC	p.P521L		TAS1R1		SNV							ENST00000333172	protein_coding	getma.org/?cm=var&var=hg19,1,6637098,C,T&fts=all		Pfam_domain:PF07562,PROSITE_patterns:PS00980,hmmpanther:PTHR24061,hmmpanther:PTHR24061:SF421		P/L		T	low	1755/2892		getma.org/?cm=msa&ty=f&p=TS1R1_HUMAN&rb=493&re=545&var=P521L	tolerated(0.12)				YES	TAS1R1,missense_variant,p.Pro521Leu,ENST00000333172,NM_138697.3;TAS1R1,missense_variant,p.Pro267Leu,ENST00000351136,NM_177540.2;TAS1R1,missense_variant,p.Pro193Leu,ENST00000415267,;TAS1R1,intron_variant,,ENST00000328191,;TAS1R1,intron_variant,,ENST00000411823,;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,;							MODERATE	1562/2526	P521L	TS1R1_HUMAN			Transcript		benign(0.049)	.	ENSP00000331867		CCDS81.1			1	
MYL3	0	LGGM	GRCh37	3	46902458	46902458	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	6	.	.	ENST00000395869.1:c.149A>T	p.Gln50Leu	p.Q50L	ENST00000395869		50	cAg/cTg	0	1		UPI0000000CA2	0	getma.org/pdb.php?prot=MYL3_HUMAN&from=49&to=86&var=Q50L	ENST00000292327		ENSG00000160808	7584		33	2.98		HGNC	p.Q50L		MYL3		SNV			1				ENST00000292327	protein_coding	getma.org/?cm=var&var=hg19,3,46902458,T,A&fts=all		Superfamily_domains:SSF47473,Gene3D:1.10.238.10,hmmpanther:PTHR23048:SF2,hmmpanther:PTHR23048,PROSITE_profiles:PS50222		Q/L		A	medium	242/924		getma.org/?cm=msa&ty=f&p=MYL3_HUMAN&rb=49&re=86&var=Q50L	deleterious(0.04)	Q14909_HUMAN,E9PGV7_HUMAN				MYL3,missense_variant,p.Gln50Leu,ENST00000395869,;MYL3,missense_variant,p.Gln50Leu,ENST00000292327,NM_000258.2;MYL3,downstream_gene_variant,,ENST00000431168,;							MODERATE	149/588	Q50L	MYL3_HUMAN			Transcript		benign(0.016)	.	ENSP00000292327		CCDS2746.1			1	
INADL	0	LGGM	GRCh37	1	62455864	62455864	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	6	.	.	ENST00000371158.2:c.3695A>T	p.Asp1232Val	p.D1232V	ENST00000371158	NM_176877.2	1232	gAt/gTt	0	1	1	UPI0000204487	0	getma.org/pdb.php?prot=INADL_HUMAN&from=1158&to=1238&var=D1232V	ENST00000371158		ENSG00000132849	28881		33	1.995		HGNC	p.D1232V		INADL		SNV							ENST00000316485	protein_coding	getma.org/?cm=var&var=hg19,1,62455864,A,T&fts=all		Gene3D:2.30.42.10,hmmpanther:PTHR19964,hmmpanther:PTHR19964:SF11,Superfamily_domains:SSF50156		D/V		T	medium	3809/8505		getma.org/?cm=msa&ty=f&p=INADL_HUMAN&rb=1158&re=1238&var=D1232V	deleterious(0)				YES	INADL,missense_variant,p.Asp1232Val,ENST00000371158,NM_176877.2;INADL,missense_variant,p.Asp1232Val,ENST00000316485,;INADL,missense_variant,p.Asp16Val,ENST00000543708,;INADL,missense_variant,p.Asp16Val,ENST00000307297,;INADL,5_prime_UTR_variant,,ENST00000545929,;INADL,non_coding_transcript_exon_variant,,ENST00000494842,;INADL,non_coding_transcript_exon_variant,,ENST00000490547,;INADL,missense_variant,p.Asp691Val,ENST00000484937,;INADL,non_coding_transcript_exon_variant,,ENST00000484562,;INADL,non_coding_transcript_exon_variant,,ENST00000459752,;							MODERATE	3695/5406	D1232V	INADL_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000360200		CCDS617.2			1	
DCAF8	0	LGGM	GRCh37	1	160201187	160201187	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	77	6	.	.	ENST00000368073.3:c.970G>A	p.Val324Met	p.V324M	ENST00000368073		324	Gtg/Atg	0	1		UPI0000141A39	0	getma.org/pdb.php?prot=DCAF8_HUMAN&from=265&to=464&var=V324M	ENST00000326837		ENSG00000132716	24891		83	1.59		HGNC	p.V478M		DCAF8		SNV			1				ENST00000556710	protein_coding	getma.org/?cm=var&var=hg19,1,160201187,C,T&fts=all		Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR15574,hmmpanther:PTHR15574:SF30,Low_complexity_(Seg):seg,SMART_domains:SM00320,Superfamily_domains:SSF50978		V/M		T	low	1271/3972		getma.org/?cm=msa&ty=f&p=DCAF8_HUMAN&rb=265&re=464&var=V324M	deleterious(0)	Q5TAQ8_HUMAN,Q5TAQ7_HUMAN,Q5TAQ6_HUMAN,Q5TAQ5_HUMAN,B7Z8C9_HUMAN				DCAF8,missense_variant,p.Val324Met,ENST00000368073,;DCAF8,missense_variant,p.Val324Met,ENST00000326837,;DCAF8,missense_variant,p.Val324Met,ENST00000368074,NM_015726.3;DCAF8,missense_variant,p.Val478Met,ENST00000556710,;DCAF8,missense_variant,p.Val478Met,ENST00000608310,;DCAF8,missense_variant,p.Val324Met,ENST00000461888,;DCAF8,non_coding_transcript_exon_variant,,ENST00000466253,;							MODERATE	970/1794	V324M	DCAF8_HUMAN			Transcript		benign(0.313)	.	ENSP00000318227		CCDS1200.1			1	
ACTRT2	0	LGGM	GRCh37	1	2938762	2938762	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	6	.	.	ENST00000378404.2:c.512A>T	p.Glu171Val	p.E171V	ENST00000378404	NM_080431.4	171	gAg/gTg	0	1	1	UPI0000070494	0	getma.org/pdb.php?prot=ACTT2_HUMAN&from=6&to=377&var=E171V	ENST00000378404		ENSG00000169717	24026		32	3.995		HGNC	p.E171V		ACTRT2		SNV							ENST00000378404	protein_coding	getma.org/?cm=var&var=hg19,1,2938762,A,T&fts=all		hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF38,Pfam_domain:PF00022,Gene3D:3.30.420.40,SMART_domains:SM00268,Superfamily_domains:SSF53067		E/V		T	high	717/1420		getma.org/?cm=msa&ty=f&p=ACTT2_HUMAN&rb=6&re=377&var=E171V	deleterious(0)				YES	ACTRT2,missense_variant,p.Glu171Val,ENST00000378404,NM_080431.4;							MODERATE	512/1134	E171V	ACTT2_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000367658		CCDS45.1			1	
PDE4DIP	0	LGGM	GRCh37	1	145075758	145075758	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	6	.	.	ENST00000369345.4:c.105C>T	p.Asp35=	p.D35=	ENST00000369345		35	gaC/gaT	0	1		UPI0001F7854E	0		ENST00000369359		ENSG00000178104	15580		24			HGNC	p.D35D	rs376390277,COSM1333550	PDE4DIP		SNV	A:0.0002			0.000104		0,1	ENST00000530740	protein_coding					D	A:0.0001	A		144/8458	4.59E-05			F8WAP3_HUMAN				PDE4DIP,synonymous_variant,p.=,ENST00000369359,;PDE4DIP,synonymous_variant,p.=,ENST00000530740,;PDE4DIP,synonymous_variant,p.=,ENST00000369348,NM_022359.5;PDE4DIP,synonymous_variant,p.=,ENST00000369345,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000528552,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533396,;PDE4DIP,synonymous_variant,p.=,ENST00000526359,;PDE4DIP,synonymous_variant,p.=,ENST00000528661,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000527063,;					0,1		LOW	105/7449					Transcript			.	ENSP00000358366	3.30E-05				1	
SLCO5A1	0	LGGM	GRCh37	8	70744643	70744643	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	6	.	.	ENST00000260126.4:c.266C>T	p.Ser89Leu	p.S89L	ENST00000260126	NM_030958.2	89	tCg/tTg	0	1	1	UPI0000140F53	0	NA	ENST00000260126		ENSG00000137571	19046		31	0.895		HGNC	p.S89L	COSM195361	SLCO5A1		SNV						1	ENST00000260126	protein_coding	getma.org/?cm=var&var=hg19,8,70744643,G,A&fts=all		hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Low_complexity_(Seg):seg		S/L		A	low	973/9076		getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=1&re=126&var=S89L	tolerated_low_confidence(0.12)				YES	SLCO5A1,missense_variant,p.Ser89Leu,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Ser89Leu,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Ser89Leu,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,missense_variant,p.Ser89Leu,ENST00000526750,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;					1		MODERATE	266/2547	S89L	SO5A1_HUMAN			Transcript		benign(0.004)	.	ENSP00000260126		CCDS6205.1			1	
ACAD10	0	LGGM	GRCh37	12	112184930	112184930	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	6	.	.	ENST00000455480.2:c.2427C>T	p.Arg809=	p.R809=	ENST00000455480	NM_001136538.1	809	cgC/cgT	0	1		UPI000013C8E1	0		ENST00000313698		ENSG00000111271	21597		18			HGNC	p.R380R		ACAD10		SNV							ENST00000392636	protein_coding			hmmpanther:PTHR10909,hmmpanther:PTHR10909:SF221,Gene3D:1.10.540.10,Pfam_domain:PF02771,Superfamily_domains:SSF56645		R		T		2489/3959				F8VXK4_HUMAN,D6RFF6_HUMAN				ACAD10,synonymous_variant,p.=,ENST00000455480,NM_001136538.1;ACAD10,synonymous_variant,p.=,ENST00000313698,NM_025247.5;ACAD10,synonymous_variant,p.=,ENST00000392636,;ACAD10,downstream_gene_variant,,ENST00000549590,;ACAD10,downstream_gene_variant,,ENST00000507683,;ACAD10,downstream_gene_variant,,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,,ENST00000546647,;ACAD10,upstream_gene_variant,,ENST00000547491,;ACAD10,downstream_gene_variant,,ENST00000552177,;							LOW	2334/3180		ACD10_HUMAN			Transcript			.	ENSP00000325137		CCDS31903.1			1	
CDK5	0	LGGM	GRCh37	7	150752386	150752386	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	6	.	.	ENST00000485972.1:c.558G>A	p.Trp186Ter	p.W186*	ENST00000485972	NM_004935.3	186	tgG/tgA	0	1	1	UPI0000113588	0	NA	ENST00000485972		ENSG00000164885	1774		27	0		HGNC	p.W186X		CDK5		SNV							ENST00000485972	protein_coding	getma.org/?cm=var&var=hg19,7,150752386,C,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24056,Gene3D:1.10.510.10,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112		W/*		T	NA	1240/1758		NA					YES	CDK5,stop_gained,p.Trp186Ter,ENST00000485972,NM_004935.3;CDK5,stop_gained,p.Trp154Ter,ENST00000297518,NM_001164410.1;SLC4A2,upstream_gene_variant,,ENST00000485713,NM_001199692.1;SLC4A2,upstream_gene_variant,,ENST00000413384,NM_003040.3;ASIC3,downstream_gene_variant,,ENST00000357922,NM_020322.3;ASIC3,downstream_gene_variant,,ENST00000349064,NM_004769.3,NM_020321.3;ASIC3,downstream_gene_variant,,ENST00000297512,;SLC4A2,upstream_gene_variant,,ENST00000490898,;SLC4A2,upstream_gene_variant,,ENST00000483786,;ASIC3,downstream_gene_variant,,ENST00000490540,;ASIC3,downstream_gene_variant,,ENST00000485929,;SLC4A2,upstream_gene_variant,,ENST00000466368,;CDK5,non_coding_transcript_exon_variant,,ENST00000487703,;ASIC3,downstream_gene_variant,,ENST00000377904,;ASIC3,downstream_gene_variant,,ENST00000468325,;ASIC3,downstream_gene_variant,,ENST00000498105,;SLC4A2,upstream_gene_variant,,ENST00000494125,;CDK5,downstream_gene_variant,,ENST00000476691,;CDK5,downstream_gene_variant,,ENST00000469108,;ASIC3,downstream_gene_variant,,ENST00000474135,;							HIGH	558/879	W186*	CDK5_HUMAN			Transcript			.	ENSP00000419782		CCDS47748.1			1	
CAPRIN2	0	LGGM	GRCh37	12	30868006	30868006	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	6	.	.	ENST00000298892.5:c.2387A>C	p.Asn796Thr	p.N796T	ENST00000298892	NM_023925.3	796	aAt/aCt	0	1	1	UPI000007080A	0	NA	ENST00000298892		ENSG00000110888	21259		80	0.55		HGNC	p.N591T		CAPRIN2		SNV							ENST00000433722	protein_coding	getma.org/?cm=var&var=hg19,12,30868006,T,G&fts=all		hmmpanther:PTHR22922,hmmpanther:PTHR22922:SF5,Pfam_domain:PF12287		N/T		G	neutral	3138/4334		getma.org/?cm=msa&ty=f&p=CAPR2_HUMAN&rb=628&re=934&var=N846T	tolerated(0.39)	F5H7T6_HUMAN,F5H5J8_HUMAN,F5GZX3_HUMAN,F5GYA1_HUMAN,F5GXI7_HUMAN			YES	CAPRIN2,missense_variant,p.Asn846Thr,ENST00000251071,NM_032156.3,NM_001002259.1;CAPRIN2,missense_variant,p.Asn512Thr,ENST00000308433,;CAPRIN2,missense_variant,p.Asn796Thr,ENST00000298892,NM_023925.3;CAPRIN2,missense_variant,p.Asn790Thr,ENST00000395805,NM_001206856.1;CAPRIN2,missense_variant,p.Asn845Thr,ENST00000417045,;CAPRIN2,missense_variant,p.Asn591Thr,ENST00000433722,;CAPRIN2,downstream_gene_variant,,ENST00000537108,;CAPRIN2,3_prime_UTR_variant,,ENST00000537553,;CAPRIN2,3_prime_UTR_variant,,ENST00000454014,;CAPRIN2,3_prime_UTR_variant,,ENST00000548676,;							MODERATE	2387/3234	N846T	CAPR2_HUMAN			Transcript		benign(0.023)	.	ENSP00000298892		CCDS8720.1			1	
ADAMTS9	0	LGGM	GRCh37	3	64672382	64672382	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	6	.	.	ENST00000498707.1:c.378C>T	p.Val126=	p.V126=	ENST00000498707	NM_182920.1	126	gtC/gtT	0	1	1	UPI00000463F0	0		ENST00000498707		ENSG00000163638	13202		29			HGNC	p.V126V		ADAMTS9		SNV							ENST00000459780	protein_coding			hmmpanther:PTHR13723:SF33,hmmpanther:PTHR13723,Pfam_domain:PF01562		V		A		721/7464				B4E0E4_HUMAN			YES	ADAMTS9,synonymous_variant,p.=,ENST00000498707,NM_182920.1;ADAMTS9,synonymous_variant,p.=,ENST00000295903,;ADAMTS9,synonymous_variant,p.=,ENST00000459780,;ADAMTS9-AS2,intron_variant,,ENST00000460833,;ADAMTS9-AS2,intron_variant,,ENST00000474768,;ADAMTS9-AS2,intron_variant,,ENST00000481312,;ADAMTS9-AS2,intron_variant,,ENST00000485174,;ADAMTS9,non_coding_transcript_exon_variant,,ENST00000475557,;ADAMTS9,upstream_gene_variant,,ENST00000482490,;							LOW	378/5808		ATS9_HUMAN			Transcript			.	ENSP00000418735		CCDS2903.1			1	
MMEL1	0	LGGM	GRCh37	1	2535707	2535707	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	6	.	.	ENST00000378412.3:c.830A>T	p.Tyr277Phe	p.Y277F	ENST00000378412		277	tAc/tTc	0	1	1	UPI0000047596	0	getma.org/pdb.php?prot=MMEL1_HUMAN&from=112&to=511&var=Y277F	ENST00000378412		ENSG00000142606	14668		30	3.175		HGNC	p.Y268F		MMEL1		SNV			1				ENST00000288709	protein_coding	getma.org/?cm=var&var=hg19,1,2535707,T,A&fts=all		hmmpanther:PTHR11733,hmmpanther:PTHR11733:SF112,Pfam_domain:PF05649,Superfamily_domains:SSF55486		Y/F		A	medium	992/2849		getma.org/?cm=msa&ty=f&p=MMEL1_HUMAN&rb=112&re=511&var=Y277F	deleterious(0.01)				YES	MMEL1,missense_variant,p.Tyr268Phe,ENST00000288709,NM_033467.3;MMEL1,missense_variant,p.Tyr277Phe,ENST00000378412,;MMEL1,intron_variant,,ENST00000502556,;MMEL1,missense_variant,p.Tyr277Phe,ENST00000504800,;MMEL1,downstream_gene_variant,,ENST00000509374,;							MODERATE	830/2340	Y277F	MMEL1_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000367668		CCDS30569.2			1	
MON2	0	LGGM	GRCh37	12	62938781	62938781	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	6	.	.	ENST00000393632.2:c.2570A>C	p.Gln857Pro	p.Q857P	ENST00000393632	NM_001278472.1	857	cAa/cCa	0	1		UPI0000D45F87	0	NA	ENST00000393630		ENSG00000061987	29177		23	0.895		HGNC	p.Q857P		MON2		SNV							ENST00000552115	protein_coding	getma.org/?cm=var&var=hg19,12,62938781,A,C&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF09324,hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF105,Low_complexity_(Seg):seg,Superfamily_domains:SSF48371		Q/P		C	low	2964/10382		getma.org/?cm=msa&ty=f&p=MON2_HUMAN&rb=848&re=933&var=Q858P	deleterious(0.03)					MON2,missense_variant,p.Gln858Pro,ENST00000393630,;MON2,missense_variant,p.Gln857Pro,ENST00000393632,NM_001278472.1,NM_015026.2;MON2,missense_variant,p.Gln857Pro,ENST00000546600,NM_001278469.1;MON2,missense_variant,p.Gln857Pro,ENST00000393629,NM_001278470.1;MON2,missense_variant,p.Gln834Pro,ENST00000552738,NM_001278471.1;MON2,missense_variant,p.Gln858Pro,ENST00000280379,;MON2,missense_variant,p.Gln857Pro,ENST00000552115,;RNU6-399P,downstream_gene_variant,,ENST00000365164,;MON2,3_prime_UTR_variant,,ENST00000547095,;							MODERATE	2573/5157	Q858P	MON2_HUMAN			Transcript		benign(0.027)	.	ENSP00000377250					1	
ASB15	0	LGGM	GRCh37	7	123256517	123256517	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	6	.	.	ENST00000451558.1:c.260C>T	p.Pro87Leu	p.P87L	ENST00000451558		87	cCc/cTc	0	1		UPI000022D0FF	0	NA	ENST00000275699		ENSG00000146809	19767		25	1.04		HGNC	p.P87L		ASB15		SNV							ENST00000540573	protein_coding	getma.org/?cm=var&var=hg19,7,123256517,C,T&fts=all		Superfamily_domains:SSF48403,Gene3D:1.25.40.20,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF0,PROSITE_profiles:PS50297		P/L		T	low	302/2706		getma.org/?cm=msa&ty=f&p=ASB15_HUMAN&rb=38&re=88&var=P87L	tolerated(0.62)	C9J956_HUMAN				ASB15,missense_variant,p.Pro87Leu,ENST00000451558,;ASB15,missense_variant,p.Pro87Leu,ENST00000451215,;ASB15,missense_variant,p.Pro87Leu,ENST00000434204,;ASB15,missense_variant,p.Pro87Leu,ENST00000540573,;ASB15,missense_variant,p.Pro87Leu,ENST00000275699,NM_080928.3;ASB15,missense_variant,p.Pro87Leu,ENST00000447789,;ASB15,missense_variant,p.Pro87Leu,ENST00000437535,;RP11-390E23.3,intron_variant,,ENST00000418409,;RP11-390E23.3,intron_variant,,ENST00000440504,;RP11-390E23.3,intron_variant,,ENST00000422401,;RP11-390E23.3,downstream_gene_variant,,ENST00000429396,;							MODERATE	260/1767	P87L	ASB15_HUMAN			Transcript		benign(0.028)	.	ENSP00000275699		CCDS34742.1			1	
PC	0	LGGM	GRCh37	11	66617933	66617933	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	6	.	.	ENST00000393960.1:c.2476G>A	p.Val826Met	p.V826M	ENST00000393960	NM_001040716.1	826	Gtg/Atg	0	1		UPI0000132BC4	0	getma.org/pdb.php?prot=PYC_HUMAN&from=563&to=832&var=V826M	ENST00000393955		ENSG00000173599	8636		22	0.935		HGNC	p.V826M		PC		SNV			1				ENST00000393960	protein_coding	getma.org/?cm=var&var=hg19,11,66617933,C,T&fts=all		Superfamily_domains:SSF51569,PIRSF_domain:PIRSF001594,Gene3D:3.20.20.70,TIGRFAM_domain:TIGR01235,hmmpanther:PTHR18866,PROSITE_profiles:PS50991		V/M		T	low	2557/4004		getma.org/?cm=msa&ty=f&p=PYC_HUMAN&rb=563&re=832&var=V826M	tolerated(0.19)	E9PS68_HUMAN				PC,missense_variant,p.Val826Met,ENST00000393960,NM_001040716.1;PC,missense_variant,p.Val826Met,ENST00000393958,NM_000920.3;PC,missense_variant,p.Val826Met,ENST00000393955,NM_022172.2;PC,upstream_gene_variant,,ENST00000529047,;RCE1,downstream_gene_variant,,ENST00000309657,NM_005133.2,NM_001032279.1;RCE1,downstream_gene_variant,,ENST00000524506,;RCE1,downstream_gene_variant,,ENST00000525356,;PC,upstream_gene_variant,,ENST00000528224,;PC,downstream_gene_variant,,ENST00000530259,;PC,upstream_gene_variant,,ENST00000529352,;RCE1,downstream_gene_variant,,ENST00000533277,;RCE1,downstream_gene_variant,,ENST00000524849,;							MODERATE	2476/3537	V826M	PYC_HUMAN			Transcript		benign(0.037)	.	ENSP00000377527		CCDS8152.1			1	
TEX56P	0	LGGM	GRCh37	6	4130804	4130804	+	3_prime_UTR_variant	3'UTR	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	6	.	.	ENST00000380175.4:c.*265C>T		*89*	ENST00000380175	NM_001085401.2			0	1	1	UPI00004573AE	0		ENST00000380175		ENSG00000185689	21620	8.68E-05	27			HGNC	p.V129I	rs374518619	C6orf201	6.06E-05	SNV	T:0						ENST00000380120	protein_coding						T:0.0001	T		1453/1834	6.00E-05						YES	C6orf201,3_prime_UTR_variant,,ENST00000380175,NM_001085401.2;C6orf201,3_prime_UTR_variant,,ENST00000333388,;ECI2,intron_variant,,ENST00000465828,;ECI2,intron_variant,,ENST00000380118,;ECI2,intron_variant,,ENST00000380125,NM_001166010.1;ECI2,intron_variant,,ENST00000413766,NM_206836.2;ECI2,intron_variant,,ENST00000361538,NM_006117.2;ECI2,intron_variant,,ENST00000495548,;RP3-400B16.4,upstream_gene_variant,,ENST00000527831,;C6orf201,downstream_gene_variant,,ENST00000496987,;ECI2,missense_variant,p.Val129Ile,ENST00000380120,;C6orf201,3_prime_UTR_variant,,ENST00000436110,;C6orf201,3_prime_UTR_variant,,ENST00000427996,;ECI2,intron_variant,,ENST00000464583,;ECI2,intron_variant,,ENST00000464057,;ECI2,intron_variant,,ENST00000496241,;ECI2,intron_variant,,ENST00000478266,;ECI2,intron_variant,,ENST00000489086,;C6orf201,downstream_gene_variant,,ENST00000451679,;							MODIFIER	-/423		CF201_HUMAN			Transcript			.	ENSP00000420610	4.94E-05	CCDS43419.1			1	
ZNF319	0	LGGM	GRCh37	16	58031326	58031326	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	6	.	.	ENST00000299237.2:c.844G>A	p.Gly282Ser	p.G282S	ENST00000299237	NM_020807.1	282	Ggc/Agc	0	1	1	UPI000013C357	0	NA	ENST00000299237		ENSG00000166188	13644		26	2.06		HGNC	p.G282S		ZNF319		SNV							ENST00000299237	protein_coding	getma.org/?cm=var&var=hg19,16,58031326,C,T&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF6,Superfamily_domains:SSF57667		G/S		T	medium	1467/4221		getma.org/?cm=msa&ty=f&p=ZN319_HUMAN&rb=281&re=328&var=G282S	tolerated(0.08)	H3BT69_HUMAN			YES	ZNF319,missense_variant,p.Gly282Ser,ENST00000299237,NM_020807.1;USB1,upstream_gene_variant,,ENST00000219281,NM_024598.3;USB1,upstream_gene_variant,,ENST00000563149,NM_001204911.1;USB1,upstream_gene_variant,,ENST00000423271,;USB1,upstream_gene_variant,,ENST00000539737,NM_001195302.1;USB1,upstream_gene_variant,,ENST00000561743,;USB1,upstream_gene_variant,,ENST00000561568,;ZNF319,downstream_gene_variant,,ENST00000562909,;USB1,upstream_gene_variant,,ENST00000565662,;USB1,upstream_gene_variant,,ENST00000569252,;USB1,upstream_gene_variant,,ENST00000562534,;USB1,upstream_gene_variant,,ENST00000568848,;USB1,upstream_gene_variant,,ENST00000563207,;USB1,upstream_gene_variant,,ENST00000566292,;USB1,upstream_gene_variant,,ENST00000564387,;							MODERATE	844/1749	G282S	ZN319_HUMAN			Transcript		benign(0.417)	.	ENSP00000299237		CCDS32462.1			1	
SERPINB4	0	LGGM	GRCh37	18	61308130	61308130	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	6	.	.	ENST00000341074.5:c.447C>T	p.Ser149=	p.S149=	ENST00000341074	NM_002974.2	149	tcC/tcT	0	1	1	UPI0000038A1A	0		ENST00000341074		ENSG00000206073	10570		21			HGNC	p.S106S		SERPINB4		SNV							ENST00000436264	protein_coding			hmmpanther:PTHR11461,hmmpanther:PTHR11461:SF155,Pfam_domain:PF00079,Gene3D:3.30.497.10,SMART_domains:SM00093,Superfamily_domains:SSF56574		S		A		563/1749							YES	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,;							LOW	447/1173		SPB4_HUMAN			Transcript			.	ENSP00000343445		CCDS11986.1			1	
NPAS1	0	LGGM	GRCh37	19	47542322	47542322	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	6	.	.	ENST00000602212.1:c.717C>T	p.Ser239=	p.S239=	ENST00000602212		239	tcC/tcT	0	1		UPI0000073CD1	0		ENST00000449844		ENSG00000130751	7894		33			HGNC	p.S239S		NPAS1		SNV							ENST00000602212	protein_coding			hmmpanther:PTHR23043,hmmpanther:PTHR23043:SF20		S		T		879/2043								NPAS1,synonymous_variant,p.=,ENST00000602212,;NPAS1,synonymous_variant,p.=,ENST00000449844,NM_002517.2;NPAS1,synonymous_variant,p.=,ENST00000602189,;NPAS1,synonymous_variant,p.=,ENST00000439365,;NPAS1,synonymous_variant,p.=,ENST00000594670,;NPAS1,intron_variant,,ENST00000600352,;NPAS1,intron_variant,,ENST00000601169,;NPAS1,intron_variant,,ENST00000594257,;							LOW	717/1773		NPAS1_HUMAN			Transcript			.	ENSP00000405290		CCDS12694.1			1	
MEF2C	0	LGGM	GRCh37	5	88057139	88057139	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	6	.	.	ENST00000340208.5:c.265A>G	p.Arg89Gly	p.R89G	ENST00000340208	NM_001193347.1	89	Aga/Gga	0	1		UPI0000040635	0	getma.org/pdb.php?prot=MEF2C_HUMAN&from=60&to=89&var=R89G	ENST00000437473		ENSG00000081189	6996		79	0.69		HGNC	p.R89G		MEF2C		SNV			1				ENST00000437473	protein_coding	getma.org/?cm=var&var=hg19,5,88057139,T,C&fts=all		hmmpanther:PTHR11945:SF25,hmmpanther:PTHR11945,Superfamily_domains:SSF55455		R/G		C	neutral	683/4095		getma.org/?cm=msa&ty=f&p=MEF2C_HUMAN&rb=60&re=89&var=R89G	deleterious(0.02)	H0YNI2_HUMAN,D6RJA7_HUMAN,D6RJ95_HUMAN,D6RG21_HUMAN,D6RG14_HUMAN,D6RCM6_HUMAN				MEF2C,missense_variant,p.Arg89Gly,ENST00000504921,;MEF2C,missense_variant,p.Arg89Gly,ENST00000340208,NM_001193347.1;MEF2C,missense_variant,p.Arg89Gly,ENST00000437473,NM_001193350.1,NM_002397.4;MEF2C,missense_variant,p.Arg89Gly,ENST00000514028,;MEF2C,missense_variant,p.Arg89Gly,ENST00000510942,;MEF2C,missense_variant,p.Arg89Gly,ENST00000506554,;MEF2C,missense_variant,p.Arg89Gly,ENST00000514015,;MEF2C,missense_variant,p.Arg89Gly,ENST00000508569,;MEF2C,missense_variant,p.Arg89Gly,ENST00000502831,;MEF2C,missense_variant,p.Arg89Gly,ENST00000502983,;MEF2C,missense_variant,p.Arg89Gly,ENST00000508610,;MEF2C,intron_variant,,ENST00000424173,NM_001131005.2;MEF2C,intron_variant,,ENST00000539796,NM_001193348.1;MEF2C,intron_variant,,ENST00000513252,;MEF2C,intron_variant,,ENST00000506716,;MEF2C,intron_variant,,ENST00000507984,;MEF2C,downstream_gene_variant,,ENST00000503075,;MEF2C,non_coding_transcript_exon_variant,,ENST00000503554,;							MODERATE	265/1422	R89G	MEF2C_HUMAN			Transcript		benign(0.002)	.	ENSP00000396219		CCDS47245.1			1	
CTNNA2	0	LGGM	GRCh37	2	80831260	80831260	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	6	.	.	ENST00000466387.1:c.2251G>A	p.Ala751Thr	p.A751T	ENST00000466387		751	Gca/Aca	0	1		UPI0000D9D4EC	0	getma.org/pdb.php?prot=CTNA2_HUMAN&from=330&to=914&var=A751T	ENST00000402739		ENSG00000066032	2510		22	1.465		HGNC	p.A751T		CTNNA2		SNV							ENST00000402739	protein_coding	getma.org/?cm=var&var=hg19,2,80831260,G,A&fts=all		Superfamily_domains:SSF47220,Pfam_domain:PF01044,Gene3D:1.20.120.230,hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		A/T		A	low	2256/3684		getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=330&re=914&var=A751T	tolerated(0.2)	C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,missense_variant,p.Ala751Thr,ENST00000466387,;CTNNA2,missense_variant,p.Ala751Thr,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Ala751Thr,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Ala751Thr,ENST00000541047,;CTNNA2,missense_variant,p.Ala430Thr,ENST00000343114,NM_001282600.1,NM_001282599.1;CTNNA2,missense_variant,p.Ala785Thr,ENST00000361291,;CTNNA2,missense_variant,p.Ala751Thr,ENST00000540488,;AC008067.2,non_coding_transcript_exon_variant,,ENST00000596783,;AC008067.2,non_coding_transcript_exon_variant,,ENST00000599412,;AC008067.2,non_coding_transcript_exon_variant,,ENST00000595478,;AC008067.2,intron_variant,,ENST00000596887,;AC008067.2,intron_variant,,ENST00000430876,;AC008067.2,intron_variant,,ENST00000609950,;CTNNA2,non_coding_transcript_exon_variant,,ENST00000467892,;							MODERATE	2251/2862	A751T	CTNA2_HUMAN			Transcript		benign(0.412)	.	ENSP00000384638		CCDS62944.1			1	
CES5A	0	LGGM	GRCh37	16	55905618	55905618	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	6	.	.	ENST00000521992.1:c.423C>T	p.Tyr141=	p.Y141=	ENST00000521992	NM_001190158.1	141	taC/taT	0	1		UPI000035CC44	0		ENST00000290567		ENSG00000159398	26459	0.000173	18			HGNC	p.Y112Y	rs758432457	CES5A		SNV							ENST00000290567	protein_coding			hmmpanther:PTHR11559:SF43,hmmpanther:PTHR11559,Gene3D:3.40.50.1820,Pfam_domain:PF00135,Superfamily_domains:SSF53474		Y		A		458/2084				I3NI11_HUMAN,F5H0J7_HUMAN				CES5A,synonymous_variant,p.=,ENST00000521992,NM_001190158.1;CES5A,synonymous_variant,p.=,ENST00000518005,;CES5A,synonymous_variant,p.=,ENST00000290567,NM_001143685.1;CES5A,synonymous_variant,p.=,ENST00000319165,NM_145024.2;CES5A,synonymous_variant,p.=,ENST00000536025,;CES5A,intron_variant,,ENST00000520435,;CES5A,intron_variant,,ENST00000541580,;CES5A,synonymous_variant,p.=,ENST00000521228,;CES5A,intron_variant,,ENST00000544479,;							LOW	336/1728		EST5A_HUMAN			Transcript			.	ENSP00000290567	1.65E-05	CCDS45490.1			1	
RGPD8	0	LGGM	GRCh37	2	113180186	113180186	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	6	.	.	ENST00000302558.3:c.191G>A	p.Arg64Lys	p.R64K	ENST00000302558	NM_001164463.1	64	aGa/aAa	0	1	1	UPI000013E7F5	0	NA	ENST00000302558		ENSG00000169629	9849		17	0.41		HGNC	p.R64K		RGPD8		SNV							ENST00000330575	protein_coding	getma.org/?cm=var&var=hg19,2,113180186,C,T&fts=all		PROSITE_profiles:PS50005,PROSITE_profiles:PS50293,hmmpanther:PTHR23138:SF86,hmmpanther:PTHR23138,Gene3D:1.25.40.10,Pfam_domain:PF00515,SMART_domains:SM00028,Superfamily_domains:SSF48452		R/K		T	neutral	383/5576		getma.org/?cm=msa&ty=f&p=RGPD8_HUMAN&rb=60&re=93&var=R64K	tolerated(0.8)	I1Z9D1_HUMAN,C9J1P2_HUMAN			YES	RGPD8,missense_variant,p.Arg64Lys,ENST00000302558,NM_001164463.1;RGPD8,missense_variant,p.Arg38Lys,ENST00000409750,;RGPD8,missense_variant,p.Arg64Lys,ENST00000330575,;RGPD8,missense_variant,p.Arg35Lys,ENST00000496537,;RGPD8,non_coding_transcript_exon_variant,,ENST00000471422,;RGPD8,upstream_gene_variant,,ENST00000522286,;							MODERATE	191/5298	R64K	RGPD8_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000306637		CCDS46394.1			1	
PCDHB10	0	LGGM	GRCh37	5	140573842	140573842	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	6	.	.	ENST00000239446.4:c.1717A>G	p.Thr573Ala	p.T573A	ENST00000239446	NM_018930.3	573	Acc/Gcc	0	1	1	UPI0000048F2E	0	getma.org/pdb.php?prot=PCDBA_HUMAN&from=568&to=671&var=T573A	ENST00000239446		ENSG00000120324	8681		38	1.485		HGNC	p.T573A	rs782533559	PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140573842,A,G&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,Superfamily_domains:SSF49313		T/A		G	low	1901/3274		getma.org/?cm=msa&ty=f&p=PCDBA_HUMAN&rb=568&re=671&var=T573A	deleterious_low_confidence(0)	O95883_HUMAN			YES	PCDHB10,missense_variant,p.Thr573Ala,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;	0.000181						MODERATE	1717/2403	T573A	PCDBA_HUMAN			Transcript		benign(0.144)	.	ENSP00000239446	8.74E-06	CCDS4252.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147183124	147183124	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	6	.	.	ENST00000361727.3:c.1768T>C	p.Cys590Arg	p.C590R	ENST00000361727	NM_014141.5	590	Tgc/Cgc	0	1	1	UPI00001285FA	0	getma.org/pdb.php?prot=CNTP2_HUMAN&from=554&to=591&var=C590R	ENST00000361727		ENSG00000174469	13830		58	4.345		HGNC	p.C590R		CNTNAP2		SNV			1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,147183124,T,C&fts=all		PROSITE_profiles:PS50026,PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,SMART_domains:SM00181,Superfamily_domains:SSF56496,Superfamily_domains:SSF57196		C/R		C	high	2284/9894		getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=554&re=591&var=C590R	deleterious(0)	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			YES	CNTNAP2,missense_variant,p.Cys590Arg,ENST00000361727,NM_014141.5;							MODERATE	1768/3996	C590R	CNTP2_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000354778		CCDS5889.1			1	
MINK1	0	LGGM	GRCh37	17	4794932	4794932	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	4	6	.	.	ENST00000355280.6:c.1922C>T	p.Ser641Leu	p.S641L	ENST00000355280	NM_001024937.3	641	tCa/tTa	0	1	1	UPI00001678BB	0	NA	ENST00000355280		ENSG00000141503	17565		10	1.975		HGNC	p.S641L		MINK1		SNV							ENST00000347992	protein_coding	getma.org/?cm=var&var=hg19,17,4794932,C,T&fts=all		hmmpanther:PTHR24361:SF196,hmmpanther:PTHR24361		S/L		T	medium	2118/4961		getma.org/?cm=msa&ty=f&p=MINK1_HUMAN&rb=321&re=1022&var=S641L	deleterious(0.04)	Q9HBM9_HUMAN,Q8NG69_HUMAN			YES	MINK1,missense_variant,p.Ser641Leu,ENST00000355280,NM_001024937.3,NM_015716.4,NM_153827.4;MINK1,missense_variant,p.Ser641Leu,ENST00000347992,NM_170663.4;MINK1,missense_variant,p.Ser621Leu,ENST00000453408,;MINK1,upstream_gene_variant,,ENST00000576037,;MINK1,3_prime_UTR_variant,,ENST00000574453,;MINK1,3_prime_UTR_variant,,ENST00000571207,;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,;MINK1,upstream_gene_variant,,ENST00000574871,;MINK1,upstream_gene_variant,,ENST00000572629,;MINK1,upstream_gene_variant,,ENST00000575511,;MINK1,upstream_gene_variant,,ENST00000572304,;MINK1,upstream_gene_variant,,ENST00000571526,;							MODERATE	1922/3999	S641L	MINK1_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000347427		CCDS45588.1			1	
GRB14	0	LGGM	GRCh37	2	165404185	165404185	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	6	.	.	ENST00000263915.3:c.466C>T	p.Pro156Ser	p.P156S	ENST00000263915	NM_004490.2	156	Cct/Tct	0	1	1	UPI000013D489	0	getma.org/pdb.php?prot=GRB14_HUMAN&from=106&to=192&var=P156S	ENST00000263915		ENSG00000115290	4565		44	1.035		HGNC	p.P69S	COSM207586	GRB14		SNV						1	ENST00000543549	protein_coding	getma.org/?cm=var&var=hg19,2,165404185,G,A&fts=all		PROSITE_profiles:PS50200,hmmpanther:PTHR11243,hmmpanther:PTHR11243:SF22,Pfam_domain:PF00788,Gene3D:3.10.20.90,SMART_domains:SM00314,Superfamily_domains:SSF54236		P/S		A	low	1005/2382		getma.org/?cm=msa&ty=f&p=GRB14_HUMAN&rb=106&re=192&var=P156S	tolerated(0.15)	Q53QQ0_HUMAN,Q53QM9_HUMAN			YES	GRB14,missense_variant,p.Pro156Ser,ENST00000263915,NM_004490.2;GRB14,missense_variant,p.Pro69Ser,ENST00000543549,;GRB14,missense_variant,p.Pro111Ser,ENST00000446413,;GRB14,missense_variant,p.Pro98Ser,ENST00000424693,;GRB14,non_coding_transcript_exon_variant,,ENST00000488342,;GRB14,non_coding_transcript_exon_variant,,ENST00000469573,;					1		MODERATE	466/1623	P156S	GRB14_HUMAN			Transcript		benign(0.057)	.	ENSP00000263915		CCDS2222.1			1	
CHD5	0	LGGM	GRCh37	1	6203890	6203890	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	6	.	.	ENST00000262450.3:c.2036T>A	p.Ile679Asn	p.I679N	ENST00000262450	NM_015557.2	679	aTt/aAt	0	1	1	UPI000006CD03	0	NA	ENST00000262450		ENSG00000116254	16816		25	1.32		HGNC	p.I679N		CHD5		SNV							ENST00000496404	protein_coding	getma.org/?cm=var&var=hg19,1,6203890,A,T&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF583,Superfamily_domains:SSF52540		I/N		T	low	2136/9646		getma.org/?cm=msa&ty=f&p=CHD5_HUMAN&rb=644&re=702&var=I679N	tolerated(0.43)				YES	CHD5,missense_variant,p.Ile679Asn,ENST00000262450,NM_015557.2;CHD5,5_prime_UTR_variant,,ENST00000378021,;CHD5,missense_variant,p.Ile679Asn,ENST00000496404,;CHD5,missense_variant,p.Ile62Asn,ENST00000462991,;							MODERATE	2036/5865	I679N	CHD5_HUMAN			Transcript		benign(0.004)	.	ENSP00000262450		CCDS57.1			1	
LEMD1	0	LGGM	GRCh37	1	205353490	205353490	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	6	.	.	ENST00000367153.4:c.273G>A	p.Trp91Ter	p.W91*	ENST00000367153	NM_001199050.1	91	tgG/tgA	0	1		UPI000020570B	0	NA	ENST00000367151		ENSG00000186007	18725		22	0		HGNC	p.W50X		LEMD1		SNV							ENST00000367151	protein_coding	getma.org/?cm=var&var=hg19,1,205353490,C,T&fts=all		hmmpanther:PTHR12019,hmmpanther:PTHR12019:SF2		W/*		T	NA	285/831		NA						LEMD1,stop_gained,p.Trp91Ter,ENST00000367153,NM_001199050.1;LEMD1,stop_gained,p.Trp50Ter,ENST00000367151,NM_001199051.1;LEMD1,stop_gained,p.Trp50Ter,ENST00000367152,;LEMD1,intron_variant,,ENST00000391936,NM_001001552.4;LEMD1,intron_variant,,ENST00000367154,;LEMD1,intron_variant,,ENST00000367149,NM_001199052.1;LEMD1-AS1,intron_variant,,ENST00000447832,;LEMD1,splice_region_variant,,ENST00000476884,;LEMD1,intron_variant,,ENST00000495594,;							HIGH	150/423	W91*	LEMD1_HUMAN			Transcript			.	ENSP00000356119		CCDS55678.1			1	
MYBPC3	0	LGGM	GRCh37	11	47362716	47362716	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	6	.	.	ENST00000545968.1:c.1870A>T	p.Asn624Tyr	p.N624Y	ENST00000545968	NM_000256.3	624	Aac/Tac	0	1	1	UPI000006EEAA	0	getma.org/pdb.php?prot=MYPC3_HUMAN&from=544&to=627&var=N623Y	ENST00000545968		ENSG00000134571	7551		15	1.78		HGNC	p.N624Y		MYBPC3		SNV			1				ENST00000544791	protein_coding	getma.org/?cm=var&var=hg19,11,47362716,T,A&fts=all		hmmpanther:PTHR19900,hmmpanther:PTHR19900:SF52,SMART_domains:SM00409		N/Y		A	low	1925/4217		getma.org/?cm=msa&ty=f&p=MYPC3_HUMAN&rb=544&re=627&var=N623Y	deleterious(0)	B6D426_HUMAN			YES	MYBPC3,missense_variant,p.Asn624Tyr,ENST00000399249,;MYBPC3,missense_variant,p.Asn624Tyr,ENST00000545968,NM_000256.3;MYBPC3,missense_variant,p.Asn623Tyr,ENST00000256993,;MYBPC3,missense_variant,p.Asn624Tyr,ENST00000544791,;							MODERATE	1870/3825	N623Y	MYPC3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000442795		CCDS53621.1			1	
TRPA1	0	LGGM	GRCh37	8	72942135	72942135	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	7	.	.	ENST00000262209.4:c.2937+1G>A		p.X979_splice	ENST00000262209	NM_007332.2			0	1	1	UPI000021081A	0		ENST00000262209		ENSG00000104321	497		48			HGNC	-		TRPA1		SNV			1				ENST00000523582	protein_coding							T		-/5223							YES	TRPA1,splice_donor_variant,,ENST00000262209,NM_007332.2;TRPA1,splice_donor_variant,,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,,ENST00000512290,;RP11-383H13.1,intron_variant,,ENST00000519751,;TRPA1,downstream_gene_variant,,ENST00000519720,;RP11-383H13.1,intron_variant,,ENST00000522519,;RP11-383H13.1,intron_variant,,ENST00000519068,;							HIGH	2937/3360		TRPA1_HUMAN			Transcript			.	ENSP00000262209		CCDS34908.1			1	
RHBDL2	0	LGGM	GRCh37	1	39361697	39361697	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000289248.2:c.553G>A	p.Gly185Arg	p.G185R	ENST00000289248		185	Gga/Aga	0	1	1	UPI0000048DB4	0	getma.org/pdb.php?prot=RHBL2_HUMAN&from=114&to=269&var=G185R	ENST00000289248		ENSG00000158315	16083		21	3.77		HGNC	p.G185R		RHBDL2		SNV							ENST00000289248	protein_coding	getma.org/?cm=var&var=hg19,1,39361697,C,T&fts=all		Gene3D:2xovA00,Pfam_domain:PF01694,PIRSF_domain:PIRSF037470,hmmpanther:PTHR22936,hmmpanther:PTHR22936:SF3,Superfamily_domains:SSF144091,Transmembrane_helices:TMhelix		G/R		T	high	1562/2129		getma.org/?cm=msa&ty=f&p=RHBL2_HUMAN&rb=114&re=269&var=G185R	deleterious(0)				YES	RHBDL2,missense_variant,p.Gly185Arg,ENST00000289248,;RHBDL2,missense_variant,p.Gly252Arg,ENST00000538156,;RHBDL2,missense_variant,p.Gly185Arg,ENST00000372990,NM_017821.3;RHBDL2,missense_variant,p.Gly265Arg,ENST00000372985,;RP5-864K19.4,intron_variant,,ENST00000433671,;							MODERATE	553/912	G185R	RHBL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000289248		CCDS30680.1			1	
MID1	0	LGGM	GRCh37	X	10417643	10417643	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	7	.	.	ENST00000317552.4:c.1769G>T	p.Ser590Ile	p.S590I	ENST00000317552	NM_033289.1	590	aGc/aTc	0	1	1	UPI000012F0E6	0	getma.org/pdb.php?prot=TRI18_HUMAN&from=538&to=655&var=S590I	ENST00000317552		ENSG00000101871	7095		22	3.11		HGNC	p.S590I		MID1		SNV			1				ENST00000380780	protein_coding	getma.org/?cm=var&var=hg19,X,10417643,C,A&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00449,Pfam_domain:PF00622,hmmpanther:PTHR24103:SF26,hmmpanther:PTHR24103,PROSITE_profiles:PS50188		S/I		A	medium	2170/6463		getma.org/?cm=msa&ty=f&p=TRI18_HUMAN&rb=538&re=655&var=S590I	deleterious(0.01)	C9JZJ7_HUMAN,C9J453_HUMAN			YES	MID1,missense_variant,p.Ser590Ile,ENST00000317552,NM_033289.1,NM_000381.3;MID1,missense_variant,p.Ser590Ile,ENST00000453318,NM_001098624.2;MID1,missense_variant,p.Ser590Ile,ENST00000380780,;MID1,missense_variant,p.Ser590Ile,ENST00000380785,;MID1,missense_variant,p.Ser590Ile,ENST00000380779,NM_001193277.1;MID1,missense_variant,p.Ser590Ile,ENST00000380787,NM_033290.3;MID1,3_prime_UTR_variant,,ENST00000380782,;MID1,non_coding_transcript_exon_variant,,ENST00000479925,;							MODERATE	1769/2004	S590I	TRI18_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000312678		CCDS14138.1			1	
ARMCX2	0	LGGM	GRCh37	X	100912515	100912515	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000328766.5:c.60C>T	p.Ala20=	p.A20=	ENST00000328766	NM_014782.5	20	gcC/gcT	0	1	1	UPI0000071305	0		ENST00000328766		ENSG00000184867	16869		21			HGNC	p.A20A		ARMCX2		SNV							ENST00000431597	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR15712:SF9,hmmpanther:PTHR15712		A		A		514/2762				Q5H9E1_HUMAN,Q5H9E0_HUMAN,Q5H9D8_HUMAN,Q5H9D7_HUMAN			YES	ARMCX2,synonymous_variant,p.=,ENST00000328766,NM_014782.5;ARMCX2,synonymous_variant,p.=,ENST00000356824,NM_177949.2;ARMCX2,synonymous_variant,p.=,ENST00000330154,;ARMCX2,synonymous_variant,p.=,ENST00000413506,;ARMCX2,synonymous_variant,p.=,ENST00000433318,;ARMCX2,synonymous_variant,p.=,ENST00000440675,;ARMCX2,synonymous_variant,p.=,ENST00000458024,;ARMCX2,synonymous_variant,p.=,ENST00000431597,;ARMCX2,non_coding_transcript_exon_variant,,ENST00000467416,;ARMCX2,non_coding_transcript_exon_variant,,ENST00000479333,;ARMCX2,downstream_gene_variant,,ENST00000475854,;ARMCX2,downstream_gene_variant,,ENST00000488982,;ARMCX2,downstream_gene_variant,,ENST00000496581,;							LOW	60/1899		ARMX2_HUMAN			Transcript			.	ENSP00000331662		CCDS14490.1			1	
CIC	0	LGGM	GRCh37	19	42791819	42791819	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	7	.	.	ENST00000575354.2:c.705C>T	p.Gly235=	p.G235=	ENST00000575354	NM_015125.3	235	ggC/ggT	0	1	1	UPI000013C5A0	0		ENST00000575354		ENSG00000079432	14214		22			HGNC	p.G1144G	COSM1394078	CIC		SNV						1	ENST00000572681	protein_coding			PROSITE_profiles:PS50118,hmmpanther:PTHR13059:SF11,hmmpanther:PTHR13059,Pfam_domain:PF00505,Gene3D:1.10.30.10,SMART_domains:SM00398,Superfamily_domains:SSF47095		G		T		745/5473							YES	CIC,synonymous_variant,p.=,ENST00000572681,;CIC,synonymous_variant,p.=,ENST00000160740,;CIC,synonymous_variant,p.=,ENST00000575354,NM_015125.3;CIC,downstream_gene_variant,,ENST00000575839,;					1		LOW	705/4827		CIC_HUMAN			Transcript			.	ENSP00000458663		CCDS12601.1			1	
CCDC157	0	LGGM	GRCh37	22	30762006	30762006	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000405659.1:c.17G>A	p.Gly6Asp	p.G6D	ENST00000405659		6	gGc/gAc	0	1		UPI0001610F7B	0	NA	ENST00000338306		ENSG00000187860	33854		21	1.905		HGNC	p.G6D		CCDC157		SNV							ENST00000338306	protein_coding	getma.org/?cm=var&var=hg19,22,30762006,G,A&fts=all		hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF173		G/D		A	medium	677/3001		getma.org/?cm=msa&ty=f&p=CC157_HUMAN&rb=1&re=750&var=G6D	deleterious(0)	E7EWT0_HUMAN,E7ETG3_HUMAN,A8MUK5_HUMAN				CCDC157,missense_variant,p.Gly6Asp,ENST00000405659,;CCDC157,missense_variant,p.Gly6Asp,ENST00000338306,NM_001017437.2;CCDC157,missense_variant,p.Gly6Asp,ENST00000399824,;CCDC157,missense_variant,p.Gly6Asp,ENST00000430839,;CCDC157,missense_variant,p.Gly6Asp,ENST00000445005,;CCDC157,intron_variant,,ENST00000475975,;							MODERATE	17/2259	G6D	CC157_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000343087		CCDS33632.2			1	
XCL1	0	LGGM	GRCh37	1	168545899	168545899	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	7	.	.	ENST00000367818.3:c.24C>T	p.Leu8=	p.L8=	ENST00000367818	NM_002995.2	8	ctC/ctT	0	1	1	UPI000013633F	0		ENST00000367818		ENSG00000143184	10645		36			HGNC	p.L8L		XCL1		SNV							ENST00000367818	protein_coding			Prints_domain:PR01731,hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF3,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L		T		189/1367							YES	XCL1,synonymous_variant,p.=,ENST00000367818,NM_002995.2;RP4-738P11.4,downstream_gene_variant,,ENST00000426573,;							LOW	24/345		XCL1_HUMAN			Transcript			.	ENSP00000356792		CCDS1274.1			1	
ADAMTS12	0	LGGM	GRCh37	5	33658361	33658361	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	7	.	.	ENST00000504830.1:c.1118A>C	p.His373Pro	p.H373P	ENST00000504830	NM_030955.2	373	cAc/cCc	0	1	1	UPI000013DC51	0	getma.org/pdb.php?prot=ATS12_HUMAN&from=246&to=456&var=H373P	ENST00000504830		ENSG00000151388	14605		88	2.015		HGNC	p.H373P		ADAMTS12		SNV							ENST00000352040	protein_coding	getma.org/?cm=var&var=hg19,5,33658361,T,G&fts=all		PROSITE_profiles:PS50215,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF150,Gene3D:3.40.390.10,Pfam_domain:PF01421,Superfamily_domains:SSF55486		H/P		G	medium	1454/8774		getma.org/?cm=msa&ty=f&p=ATS12_HUMAN&rb=246&re=456&var=H373P	deleterious(0)				YES	ADAMTS12,missense_variant,p.His373Pro,ENST00000504830,NM_030955.2;ADAMTS12,missense_variant,p.His373Pro,ENST00000352040,;ADAMTS12,non_coding_transcript_exon_variant,,ENST00000504582,;							MODERATE	1118/4785	H373P	ATS12_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000422554		CCDS34140.1			1	
LRP11	0	LGGM	GRCh37	6	150157350	150157350	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	7	.	.	ENST00000239367.2:c.1123G>A	p.Gly375Ser	p.G375S	ENST00000239367	NM_032832.5	375	Ggt/Agt	0	1	1	UPI0000042403	0	NA	ENST00000239367		ENSG00000120256	16936		44	1.1		HGNC	p.G375S		LRP11		SNV							ENST00000239367	protein_coding	getma.org/?cm=var&var=hg19,6,150157350,C,T&fts=all				G/S		T	low	1129/3260		getma.org/?cm=msa&ty=f&p=LRP11_HUMAN&rb=345&re=449&var=G375S	tolerated(0.49)	B4DS68_HUMAN			YES	LRP11,missense_variant,p.Gly375Ser,ENST00000239367,NM_032832.5;LRP11,missense_variant,p.Gly120Ser,ENST00000546019,;LRP11,upstream_gene_variant,,ENST00000463728,;							MODERATE	1123/1503	G375S	LRP11_HUMAN			Transcript		benign(0.053)	.	ENSP00000239367		CCDS5220.1			1	
DST	0	LGGM	GRCh37	6	56485102	56485102	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	7	.	.	ENST00000244364.6:c.3318+4226G>A		*1106*	ENST00000244364	NM_015548.4			0	1	1	UPI00001C1577	0		ENST00000244364		ENSG00000151914	1090		52			HGNC	p.E1244K	rs772449025	DST		SNV			1				ENST00000370765	protein_coding							T		-/16742	1.50E-05			Q86T18_HUMAN			YES	DST,missense_variant,p.Glu1244Lys,ENST00000370765,NM_001723.5;DST,intron_variant,,ENST00000370754,;DST,intron_variant,,ENST00000370769,;DST,intron_variant,,ENST00000312431,;DST,intron_variant,,ENST00000446842,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,intron_variant,,ENST00000421834,;DST,intron_variant,,ENST00000244364,NM_015548.4;DST,intron_variant,,ENST00000439203,;DST,intron_variant,,ENST00000520645,;DST,intron_variant,,ENST00000522360,;DST,downstream_gene_variant,,ENST00000518935,;							MODIFIER	-/15516		DYST_HUMAN			Transcript			.	ENSP00000244364	8.24E-06	CCDS47443.1			1	
FLYWCH1	0	LGGM	GRCh37	16	2983772	2983772	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	7	.	.	ENST00000416288.2:c.1302C>T	p.Ser434=	p.S434=	ENST00000416288	NM_032296.2	434	tcC/tcT	0	1		UPI000013CE05	0		ENST00000253928		ENSG00000059122	25404		22			HGNC	p.S435S	rs748860354	FLYWCH1	6.75E-05	SNV							ENST00000253928	protein_coding			Pfam_domain:PF04500,hmmpanther:PTHR31665,hmmpanther:PTHR31665:SF2		S		T		1710/5037				I3L231_HUMAN,I3L0R3_HUMAN				FLYWCH1,synonymous_variant,p.=,ENST00000399667,;FLYWCH1,synonymous_variant,p.=,ENST00000253928,;FLYWCH1,synonymous_variant,p.=,ENST00000416288,NM_032296.2,NM_020912.1;FLYWCH1,synonymous_variant,p.=,ENST00000344592,;FLYWCH1,synonymous_variant,p.=,ENST00000573564,;FLYWCH1,upstream_gene_variant,,ENST00000575679,;FLYWCH1,downstream_gene_variant,,ENST00000570425,;FLYWCH1,downstream_gene_variant,,ENST00000573525,;FLYWCH1,upstream_gene_variant,,ENST00000571580,;FLYWCH1,upstream_gene_variant,,ENST00000571983,;FLYWCH1,upstream_gene_variant,,ENST00000570752,;FLYWCH1,upstream_gene_variant,,ENST00000575604,;FLYWCH1,upstream_gene_variant,,ENST00000574985,;	0.000937						LOW	1305/2151		FWCH1_HUMAN			Transcript			common_variant	ENSP00000253928	7.45E-05				1	
RGPD3	0	LGGM	GRCh37	2	107040961	107040961	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	171	7	.	.	ENST00000409886.3:c.3462A>C	p.Pro1154=	p.P1154=	ENST00000409886	NM_001144013.1	1154	ccA/ccC	0	1	1	UPI00006C049F	0		ENST00000409886		ENSG00000153165	32416		178			HGNC	p.P1154P		RGPD3		SNV							ENST00000409886	protein_coding			Gene3D:2.30.29.30,Pfam_domain:PF00638,PROSITE_profiles:PS50196,hmmpanther:PTHR23138,hmmpanther:PTHR23138:SF86,SMART_domains:SM00160,Superfamily_domains:SSF50729		P		G		3550/5594				I1Z9D1_HUMAN			YES	RGPD3,synonymous_variant,p.=,ENST00000409886,NM_001144013.1;RGPD3,synonymous_variant,p.=,ENST00000304514,;							LOW	3462/5277		RGPD3_HUMAN			Transcript			.	ENSP00000386588		CCDS46379.1			1	
EPHA10	0	LGGM	GRCh37	1	38181647	38181647	+	3_prime_UTR_variant	3'UTR	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	7	.	.	ENST00000373048.4:c.*2397T>G		*799*	ENST00000373048	NM_001099439.1			0	1	1	UPI00001A41BD	0		ENST00000373048		ENSG00000183317	19987		53			HGNC	p.I510R		EPHA10		SNV							ENST00000330210	protein_coding							C		5424/5425							YES	EPHA10,missense_variant,p.Ile510Arg,ENST00000330210,;EPHA10,3_prime_UTR_variant,,ENST00000373048,NM_001099439.1;EPHA10,3_prime_UTR_variant,,ENST00000427468,;EPHA10,3_prime_UTR_variant,,ENST00000540011,;EPHA10,non_coding_transcript_exon_variant,,ENST00000446149,;EPHA10,3_prime_UTR_variant,,ENST00000437645,;EPHA10,3_prime_UTR_variant,,ENST00000432874,;EPHA10,3_prime_UTR_variant,,ENST00000534097,;EPHA10,upstream_gene_variant,,ENST00000444950,;EPHA10,downstream_gene_variant,,ENST00000453577,;							MODIFIER	-/3027		EPHAA_HUMAN			Transcript			.	ENSP00000362139		CCDS41305.1			1	
ZHX2	0	LGGM	GRCh37	8	123964122	123964122	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	7	.	.	ENST00000314393.4:c.372C>T	p.Ser124=	p.S124=	ENST00000314393	NM_014943.3	124	tcC/tcT	0	1	1	UPI0000073CCB	0		ENST00000314393		ENSG00000178764	18513		54			HGNC	p.S124S		ZHX2		SNV							ENST00000314393	protein_coding			Pfam_domain:PF13909,PROSITE_profiles:PS50157,hmmpanther:PTHR15467,hmmpanther:PTHR15467:SF5,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		T		1207/4622				H0YKA3_HUMAN			YES	ZHX2,synonymous_variant,p.=,ENST00000314393,NM_014943.3;ZHX2,synonymous_variant,p.=,ENST00000534247,;							LOW	372/2514		ZHX2_HUMAN			Transcript			.	ENSP00000314709		CCDS6336.1			1	
CHL1	0	LGGM	GRCh37	3	447371	447371	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	7	.	.	ENST00000256509.2:c.3652G>A	p.Ala1218Thr	p.A1218T	ENST00000256509	NM_001253388.1	1218	Gca/Aca	0	1		UPI0000E08093	0	NA	ENST00000397491		ENSG00000134121	1939		28	1.455		HGNC	p.A1202T		CHL1		SNV			1				ENST00000397491	protein_coding	getma.org/?cm=var&var=hg19,3,447371,G,A&fts=all		hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF122		A/T		A	low	4071/5235		getma.org/?cm=msa&ty=f&p=CHL1_HUMAN&rb=1162&re=1208&var=A1202T	deleterious(0)	C9JW79_HUMAN,C9JH37_HUMAN,C9JEY3_HUMAN,C9J905_HUMAN				CHL1,missense_variant,p.Ala1218Thr,ENST00000256509,NM_001253388.1,NM_006614.3,NM_001253387.1;CHL1,missense_variant,p.Ala1202Thr,ENST00000397491,;CHL1,missense_variant,p.Ala352Thr,ENST00000445697,;							MODERATE	3604/3627	A1202T	CHL1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000380628		CCDS58812.1			1	
ACACA	0	LGGM	GRCh37	17	35545403	35545403	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	7	.	.	ENST00000353139.5:c.4590G>A	p.Arg1530=	p.R1530=	ENST00000353139	NM_198834.1	1530	cgG/cgA	0	1	1	UPI00002263AC	0		ENST00000353139		ENSG00000132142	84		35			HGNC	p.R1530R		ACACA		SNV			1				ENST00000353139	protein_coding			hmmpanther:PTHR18866:SF89,hmmpanther:PTHR18866,Pfam_domain:PF08326		R		T		5072/9962				Q7Z5W8_HUMAN,K7EII5_HUMAN,K4DID9_HUMAN,B4DWK9_HUMAN,B4DK31_HUMAN,B4DIW1_HUMAN,B2ZZ90_HUMAN,A8MYL5_HUMAN			YES	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,synonymous_variant,p.=,ENST00000591119,;ACACA,upstream_gene_variant,,ENST00000592427,;ACACA,non_coding_transcript_exon_variant,,ENST00000586621,;							LOW	4590/7152		ACACA_HUMAN			Transcript			.	ENSP00000344789		CCDS42302.1			1	
STX6	0	LGGM	GRCh37	1	180974520	180974520	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	7	.	.	ENST00000258301.5:c.115A>T	p.Thr39Ser	p.T39S	ENST00000258301	NM_005819.4	39	Aca/Tca	0	1	1	UPI00000490D6	0	getma.org/pdb.php?prot=STX6_HUMAN&from=5&to=103&var=T39S	ENST00000258301		ENSG00000135823	11441		62	-0.635		HGNC	p.T39S		STX6		SNV							ENST00000258301	protein_coding	getma.org/?cm=var&var=hg19,1,180974520,T,A&fts=all		Gene3D:1.20.58.90,Pfam_domain:PF09177,hmmpanther:PTHR12380,hmmpanther:PTHR12380:SF35,Superfamily_domains:SSF47661		T/S		A	neutral	353/4851		getma.org/?cm=msa&ty=f&p=STX6_HUMAN&rb=5&re=103&var=T39S	tolerated(1)	B4DR17_HUMAN			YES	STX6,missense_variant,p.Thr39Ser,ENST00000258301,NM_005819.4;STX6,intron_variant,,ENST00000542060,NM_001286210.1;							MODERATE	115/768	T39S	STX6_HUMAN			Transcript		benign(0.003)	.	ENSP00000258301		CCDS1341.1			1	
URB1	0	LGGM	GRCh37	21	33690114	33690114	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	7	.	.	ENST00000382751.3:c.5907T>A	p.Asn1969Lys	p.N1969K	ENST00000382751	NM_014825.2	1969	aaT/aaA	0	1	1	UPI0000185F65	0	NA	ENST00000382751		ENSG00000142207	17344		19	2.045		HGNC	p.N1969K		URB1		SNV							ENST00000382751	protein_coding	getma.org/?cm=var&var=hg19,21,33690114,A,T&fts=all		hmmpanther:PTHR13500		N/K		T	medium	6023/10832		getma.org/?cm=msa&ty=f&p=NPA1P_HUMAN&rb=1888&re=2269&var=N1969K	tolerated(0.1)				YES	URB1,missense_variant,p.Asn1969Lys,ENST00000382751,NM_014825.2;MRAP,downstream_gene_variant,,ENST00000399786,NM_206898.1;MRAP,downstream_gene_variant,,ENST00000339944,;							MODERATE	5907/6816	N1969K	NPA1P_HUMAN			Transcript		benign(0.284)	.	ENSP00000372199		CCDS46645.1			1	
CD4	0	LGGM	GRCh37	12	6924097	6924097	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	7	.	.	ENST00000011653.4:c.546G>A	p.Trp182Ter	p.W182*	ENST00000011653	NM_000616.4	182	tgG/tgA	0	1	1	UPI0000001294	0	NA	ENST00000011653		ENSG00000010610	1678		24	0		HGNC	p.W127X		CD4		SNV			1				ENST00000541982	protein_coding	getma.org/?cm=var&var=hg19,12,6924097,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF05790,hmmpanther:PTHR11422,hmmpanther:PTHR11422:SF0,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		W/*		A	NA	804/3114		NA		Q6LCP8_HUMAN,Q13969_HUMAN,F5GYA9_HUMAN,B4DT49_HUMAN			YES	CD4,stop_gained,p.Trp182Ter,ENST00000011653,NM_000616.4,NM_001195017.2,NM_001195016.2,NM_001195015.2;CD4,stop_gained,p.Trp127Ter,ENST00000541982,;CD4,non_coding_transcript_exon_variant,,ENST00000538827,;CD4,non_coding_transcript_exon_variant,,ENST00000536563,;CD4,downstream_gene_variant,,ENST00000536610,;CD4,downstream_gene_variant,,ENST00000536590,;CD4,non_coding_transcript_exon_variant,,ENST00000437800,;CD4,non_coding_transcript_exon_variant,,ENST00000544344,;CD4,downstream_gene_variant,,ENST00000543755,;							HIGH	546/1377	W182*	CD4_HUMAN			Transcript			.	ENSP00000011653		CCDS8562.1			1	
WDFY3	0	LGGM	GRCh37	4	85654698	85654698	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	7	.	.	ENST00000295888.4:c.7058G>A	p.Arg2353Lys	p.R2353K	ENST00000295888	NM_014991.4	2353	aGg/aAg	0	1	1	UPI000013E2C7	0	NA	ENST00000295888		ENSG00000163625	20751		70	2.545		HGNC	p.R2353K		WDFY3		SNV							ENST00000295888	protein_coding	getma.org/?cm=var&var=hg19,4,85654698,C,T&fts=all		hmmpanther:PTHR13743:SF55,hmmpanther:PTHR13743		R/K		T	medium	7466/14247		getma.org/?cm=msa&ty=f&p=WDFY3_HUMAN&rb=2201&re=2400&var=R2353K	deleterious(0.01)	D6RJE4_HUMAN,A7E1Z6_HUMAN			YES	WDFY3,missense_variant,p.Arg2353Lys,ENST00000322366,;WDFY3,missense_variant,p.Arg2353Lys,ENST00000295888,NM_014991.4;WDFY3,upstream_gene_variant,,ENST00000514711,;WDFY3,downstream_gene_variant,,ENST00000504839,;							MODERATE	7058/10581	R2353K	WDFY3_HUMAN			Transcript		possibly_damaging(0.714)	.	ENSP00000295888		CCDS3609.1			1	
FAM3D	0	LGGM	GRCh37	3	58631284	58631284	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	8	7	.	.	ENST00000358781.2:c.215G>A	p.Ser72Asn	p.S72N	ENST00000358781	NM_138805.2	72	aGt/aAt	0	1	1	UPI00000015C6	0	NA	ENST00000358781		ENSG00000198643	18665		15	3.125		HGNC	p.S72N	rs776211117	FAM3D		SNV							ENST00000498347	protein_coding	getma.org/?cm=var&var=hg19,3,58631284,C,T&fts=all		hmmpanther:PTHR14592,hmmpanther:PTHR14592:SF8		S/N		T	medium	526/1319		getma.org/?cm=msa&ty=f&p=FAM3D_HUMAN&rb=1&re=223&var=S72N	deleterious(0)	C9IZW7_HUMAN			YES	FAM3D,missense_variant,p.Ser72Asn,ENST00000358781,NM_138805.2;FAM3D,missense_variant,p.Ser71Asn,ENST00000483787,;FAM3D,missense_variant,p.Ser35Asn,ENST00000489857,;FAM3D,missense_variant,p.Ser72Asn,ENST00000498347,;FAM3D,3_prime_UTR_variant,,ENST00000482623,;							MODERATE	215/675	S72N	FAM3D_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000351632		CCDS2893.1			1	
FMN2	0	LGGM	GRCh37	1	240371879	240371879	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	7	.	.	ENST00000319653.9:c.3767C>T	p.Thr1256Ile	p.T1256I	ENST00000319653	NM_020066.4	1256	aCc/aTc	0	1	1	UPI00015FA087	0	NA	ENST00000319653		ENSG00000155816	14074		32	0.895		HGNC	p.T1256I		FMN2		SNV			1				ENST00000319653	protein_coding	getma.org/?cm=var&var=hg19,1,240371879,C,T&fts=all		Pfam_domain:PF06346,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF185,SMART_domains:SM00498		T/I		T	low	3997/6434		getma.org/?cm=msa&ty=f&p=FMN2_HUMAN&rb=1130&re=1278&var=T1256I		Q96L17_HUMAN,B4DN09_HUMAN			YES	FMN2,missense_variant,p.Thr1256Ile,ENST00000319653,NM_020066.4;FMN2,downstream_gene_variant,,ENST00000447095,;							MODERATE	3767/5169	T1256I	FMN2_HUMAN			Transcript		possibly_damaging(0.546)	.	ENSP00000318884		CCDS31069.2			1	
SLC38A8	0	LGGM	GRCh37	16	84066987	84066987	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	7	.	.	ENST00000299709.3:c.476T>A	p.Leu159Gln	p.L159Q	ENST00000299709	NM_001080442.1	159	cTg/cAg	0	1	1	UPI0000D61A1F	0	NA	ENST00000299709		ENSG00000166558	32434		37	2.28		HGNC	p.L159Q		SLC38A8		SNV			1				ENST00000568178	protein_coding	getma.org/?cm=var&var=hg19,16,84066987,A,T&fts=all		Pfam_domain:PF01490,hmmpanther:PTHR22950,hmmpanther:PTHR22950:SF226,Low_complexity_(Seg):seg		L/Q		T	medium	476/1308		getma.org/?cm=msa&ty=f&p=S38A8_HUMAN&rb=22&re=431&var=L159Q	deleterious(0)	H3BUP5_HUMAN,H3BP02_HUMAN			YES	SLC38A8,missense_variant,p.Leu159Gln,ENST00000299709,NM_001080442.1;SLC38A8,missense_variant,p.Leu159Gln,ENST00000568178,;SLC38A8,missense_variant,p.Leu46Gln,ENST00000569816,;							MODERATE	476/1308	L159Q	S38A8_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000299709		CCDS32495.1			1	
C14orf166	0	LGGM	GRCh37	14	52460515	52460515	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000261700.3:c.261T>C	p.Ala87=	p.A87=	ENST00000261700	NM_016039.2	87	gcT/gcC	0	1	1	UPI000012759D	0		ENST00000261700		ENSG00000087302	23169		21			HGNC	p.A87A		C14orf166		SNV							ENST00000556760	protein_coding			Pfam_domain:PF10036,hmmpanther:PTHR15924		A		C		426/1080				Q549M8_HUMAN			YES	C14orf166,synonymous_variant,p.=,ENST00000261700,NM_016039.2;C14orf166,synonymous_variant,p.=,ENST00000556760,;C14orf166,synonymous_variant,p.=,ENST00000553362,;C14orf166,intron_variant,,ENST00000557553,;C14orf166,upstream_gene_variant,,ENST00000553707,;							LOW	261/735		CN166_HUMAN			Transcript			.	ENSP00000261700		CCDS9705.1			1	
ZNF80	0	LGGM	GRCh37	3	113955518	113955518	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	7	.	.	ENST00000482457.2:c.404G>A	p.Cys135Tyr	p.C135Y	ENST00000482457	NM_007136.3	135	tGc/tAc	0	1		UPI000013ECC4	0	getma.org/pdb.php?prot=ZNF80_HUMAN&from=115&to=144&var=C135Y	ENST00000308095		ENSG00000174255	13155		32	2.935		HGNC	p.C135Y		ZNF80		SNV							ENST00000482457	nonsense_mediated_decay	getma.org/?cm=var&var=hg19,3,113955518,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF111,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/Y		T	medium	908/2555		getma.org/?cm=msa&ty=f&p=ZNF80_HUMAN&rb=115&re=144&var=C135Y	deleterious(0)					ZNF80,missense_variant,p.Cys135Tyr,ENST00000482457,NM_007136.3;RP11-553L6.2,downstream_gene_variant,,ENST00000493033,;RP11-553L6.2,downstream_gene_variant,,ENST00000481773,;ZNF80,missense_variant,p.Cys135Tyr,ENST00000308095,;RP11-553L6.3,upstream_gene_variant,,ENST00000473625,;							MODERATE	404/822	C135Y	ZNF80_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000309812		CCDS2979.1			1	
GRIK1	0	LGGM	GRCh37	21	30934117	30934117	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	7	.	.	ENST00000399907.1:c.2184G>A	p.Gln728=	p.Q728=	ENST00000399907	NM_000830.3	728	caG/caA	0	1	1	UPI000012B612	0		ENST00000399907		ENSG00000171189	4579		27			HGNC	p.Q728Q		GRIK1		SNV							ENST00000389124	protein_coding			Superfamily_domains:SSF53850,SMART_domains:SM00079,Pfam_domain:PF00060,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF36		Q		T		2596/3472				Q9UNN1_HUMAN,Q71UA3_HUMAN			YES	GRIK1,synonymous_variant,p.=,ENST00000399914,;GRIK1,synonymous_variant,p.=,ENST00000399907,NM_000830.3;GRIK1,synonymous_variant,p.=,ENST00000399909,;GRIK1,synonymous_variant,p.=,ENST00000399913,;GRIK1,synonymous_variant,p.=,ENST00000327783,;GRIK1,synonymous_variant,p.=,ENST00000389125,NM_175611.2;GRIK1,synonymous_variant,p.=,ENST00000535441,;GRIK1,synonymous_variant,p.=,ENST00000309434,;GRIK1,synonymous_variant,p.=,ENST00000389124,;BACH1,intron_variant,,ENST00000422809,;BACH1,intron_variant,,ENST00000468059,;							LOW	2184/2757		GRIK1_HUMAN			Transcript			.	ENSP00000382791		CCDS42913.1			1	
NUP210	0	LGGM	GRCh37	3	13363097	13363097	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	7	.	.	ENST00000254508.5:c.5154G>T	p.Leu1718=	p.L1718=	ENST00000254508	NM_024923.3	1718	ctG/ctT	0	1	1	UPI00001600AF	0		ENST00000254508		ENSG00000132182	30052		55			HGNC	p.L1718L		NUP210		SNV							ENST00000254508	protein_coding			hmmpanther:PTHR23019,hmmpanther:PTHR23019:SF2		L		A		5237/7191							YES	NUP210,synonymous_variant,p.=,ENST00000254508,NM_024923.3;							LOW	5154/5664		PO210_HUMAN			Transcript			.	ENSP00000254508		CCDS33704.1			1	
TLN2	0	LGGM	GRCh37	15	62945447	62945447	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	7	.	.	ENST00000561311.1:c.451A>T	p.Arg151Trp	p.R151W	ENST00000561311		151	Agg/Tgg	0	1		UPI00001FE5FC	0	getma.org/pdb.php?prot=TLN2_HUMAN&from=92&to=201&var=R151W	ENST00000306829		ENSG00000171914	15447		39	2.005		HGNC	p.R151W		TLN2		SNV							ENST00000306829	protein_coding	getma.org/?cm=var&var=hg19,15,62945447,A,T&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR19981,hmmpanther:PTHR19981:SF15,Pfam_domain:PF09379,SMART_domains:SM00295		R/W		T	medium	451/11650		getma.org/?cm=msa&ty=f&p=TLN2_HUMAN&rb=92&re=201&var=R151W	deleterious(0)					TLN2,missense_variant,p.Arg151Trp,ENST00000561311,;TLN2,missense_variant,p.Arg151Trp,ENST00000306829,NM_015059.2;TLN2,non_coding_transcript_exon_variant,,ENST00000474847,;							MODERATE	451/7629	R151W	TLN2_HUMAN			Transcript		probably_damaging(0.945)	.	ENSP00000303476		CCDS32261.1			1	
LAMC1	0	LGGM	GRCh37	1	183111903	183111903	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	7	.	.	ENST00000258341.4:c.4808C>T	p.Thr1603Ile	p.T1603I	ENST00000258341	NM_002293.3	1603	aCc/aTc	0	1	1	UPI000013CFC7	0	NA	ENST00000258341		ENSG00000135862	6492		49	1.965		HGNC	p.T1603I		LAMC1		SNV							ENST00000258341	protein_coding	getma.org/?cm=var&var=hg19,1,183111903,C,T&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF228		T/I		T	medium	5065/7889		getma.org/?cm=msa&ty=f&p=LAMC1_HUMAN&rb=1513&re=1609&var=T1603I	deleterious(0.03)	R4GNC7_HUMAN			YES	LAMC1,missense_variant,p.Thr1603Ile,ENST00000258341,NM_002293.3;RP11-181K3.4,upstream_gene_variant,,ENST00000457852,;LAMC1,downstream_gene_variant,,ENST00000495918,;							MODERATE	4808/4830	T1603I	LAMC1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000258341		CCDS1351.1			1	
GABRR1	0	LGGM	GRCh37	6	89926925	89926925	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	112	7	.	.	ENST00000454853.2:c.117A>C	p.Lys39Asn	p.K39N	ENST00000454853	NM_001256704.1	39	aaA/aaC	0	1	1	UPI0000D4AF7D	0	NA	ENST00000454853		ENSG00000146276	4090		119	0.55		HGNC	p.K39N		GABRR1		SNV							ENST00000435811	protein_coding	getma.org/?cm=var&var=hg19,6,89926925,T,G&fts=all		hmmpanther:PTHR18945,hmmpanther:PTHR18945:SF30		K/N		G	neutral	228/2820		getma.org/?cm=msa&ty=f&p=GBRR1_HUMAN&rb=1&re=73&var=K39N	tolerated_low_confidence(0.19)				YES	GABRR1,missense_variant,p.Lys39Asn,ENST00000435811,NM_001256703.1;GABRR1,missense_variant,p.Lys39Asn,ENST00000454853,NM_001256704.1,NM_002042.4;GABRR1,intron_variant,,ENST00000369451,NM_001267582.1;GABRR1,non_coding_transcript_exon_variant,,ENST00000481493,;GABRR1,missense_variant,p.Lys39Asn,ENST00000457434,;							MODERATE	117/1440	K39N	GBRR1_HUMAN			Transcript		benign(0.081)	.	ENSP00000412673		CCDS5019.2			1	
ST5	0	LGGM	GRCh37	11	8732433	8732433	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	7	.	.	ENST00000534127.1:c.2311G>A	p.Glu771Lys	p.E771K	ENST00000534127	NM_005418.3	771	Gaa/Aaa	0	1		UPI00001AECB8	0	getma.org/pdb.php?prot=ST5_HUMAN&from=715&to=784&var=E771K	ENST00000313726		ENSG00000166444	11350		23	1.665		HGNC	p.E771K		ST5		SNV							ENST00000313726	protein_coding	getma.org/?cm=var&var=hg19,11,8732433,C,T&fts=all		Pfam_domain:PF03456,PROSITE_profiles:PS50946,hmmpanther:PTHR15288,hmmpanther:PTHR15288:SF5,SMART_domains:SM00800		E/K		T	low	2660/4507		getma.org/?cm=msa&ty=f&p=ST5_HUMAN&rb=715&re=784&var=E771K	deleterious(0.01)	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				ST5,missense_variant,p.Glu771Lys,ENST00000534127,NM_005418.3;ST5,missense_variant,p.Glu771Lys,ENST00000313726,NM_213618.1;ST5,missense_variant,p.Glu771Lys,ENST00000357665,;ST5,missense_variant,p.Glu243Lys,ENST00000530991,;ST5,missense_variant,p.Glu351Lys,ENST00000526757,NM_139157.2;ST5,missense_variant,p.Glu351Lys,ENST00000530438,;ST5,missense_variant,p.Glu284Lys,ENST00000526099,;ST5,missense_variant,p.Glu243Lys,ENST00000533020,;ST5,upstream_gene_variant,,ENST00000534278,;ST5,downstream_gene_variant,,ENST00000528527,;ST5,downstream_gene_variant,,ENST00000530593,;ST5,downstream_gene_variant,,ENST00000526057,;ST5,downstream_gene_variant,,ENST00000528196,;ST5,downstream_gene_variant,,ENST00000530580,;ST5,downstream_gene_variant,,ENST00000527510,;ST5,upstream_gene_variant,,ENST00000533081,;ST5,downstream_gene_variant,,ENST00000531060,;ST5,non_coding_transcript_exon_variant,,ENST00000526837,;RPL27A,intron_variant,,ENST00000531102,;ST5,downstream_gene_variant,,ENST00000533425,;ST5,3_prime_UTR_variant,,ENST00000532734,;ST5,3_prime_UTR_variant,,ENST00000530338,;ST5,non_coding_transcript_exon_variant,,ENST00000526701,;ST5,intron_variant,,ENST00000530559,;ST5,upstream_gene_variant,,ENST00000532871,;							MODERATE	2311/3414	E771K	ST5_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000319678		CCDS7791.1			1	
MAML2	0	LGGM	GRCh37	11	95826042	95826042	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000524717.1:c.1153C>T	p.Pro385Ser	p.P385S	ENST00000524717	NM_032427.1	385	Cca/Tca	0	1	1	UPI00001B4EFC	0	NA	ENST00000524717		ENSG00000184384	16259		21	-0.2		HGNC	p.P385S		MAML2		SNV							ENST00000524717	protein_coding	getma.org/?cm=var&var=hg19,11,95826042,G,A&fts=all		hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9		P/S		A	neutral	2438/7106		getma.org/?cm=msa&ty=f&p=MAML2_HUMAN&rb=291&re=490&var=P385S					YES	MAML2,missense_variant,p.Pro385Ser,ENST00000524717,NM_032427.1;							MODERATE	1153/3471	P385S	MAML2_HUMAN			Transcript		benign(0.027)	.	ENSP00000434552		CCDS44714.1			1	
EVPL	0	LGGM	GRCh37	17	74015686	74015686	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	7	.	.	ENST00000301607.3:c.1060T>A	p.Ser354Thr	p.S354T	ENST00000301607	NM_001988.2	354	Tcc/Acc	0	1	1	UPI000013E730	0	getma.org/pdb.php?prot=EVPL_HUMAN&from=201&to=400&var=S354T	ENST00000301607		ENSG00000167880	3503		14	1.91		HGNC	p.S354T		EVPL		SNV							ENST00000586740	protein_coding	getma.org/?cm=var&var=hg19,17,74015686,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23169,hmmpanther:PTHR23169:SF7		S/T		T	medium	1314/6614		getma.org/?cm=msa&ty=f&p=EVPL_HUMAN&rb=201&re=400&var=S354T	tolerated(0.05)	K7EQ87_HUMAN			YES	EVPL,missense_variant,p.Ser354Thr,ENST00000301607,NM_001988.2;EVPL,missense_variant,p.Ser354Thr,ENST00000586740,;EVPL,non_coding_transcript_exon_variant,,ENST00000587569,;							MODERATE	1060/6102	S354T	EVPL_HUMAN			Transcript		possibly_damaging(0.459)	.	ENSP00000301607		CCDS11737.1			1	
MTSS1L	0	LGGM	GRCh37	16	70712206	70712206	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	7	.	.	ENST00000338779.6:c.573C>T	p.Ile191=	p.I191=	ENST00000338779	NM_138383.2	191	atC/atT	0	1	1	UPI00001D627C	0		ENST00000338779		ENSG00000132613	25094		37			HGNC	p.I191I	rs3813907,COSM4062398	MTSS1L		SNV				9.79E-05		0,1	ENST00000338779	protein_coding			PROSITE_profiles:PS51338,hmmpanther:PTHR15708:SF8,hmmpanther:PTHR15708,Gene3D:1y2oA00,Pfam_domain:PF08397,Superfamily_domains:SSF103657		I		A		848/4992							YES	MTSS1L,synonymous_variant,p.=,ENST00000338779,NM_138383.2;MTSS1L,synonymous_variant,p.=,ENST00000576338,;MTSS1L,synonymous_variant,p.=,ENST00000562883,;					0,1		LOW	573/2244		MTSSL_HUMAN			Transcript			.	ENSP00000341171	8.24E-06	CCDS32476.1			1	
CDYL2	0	LGGM	GRCh37	16	80718845	80718845	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	7	.	.	ENST00000570137.2:c.206G>A	p.Gly69Glu	p.G69E	ENST00000570137	NM_152342.2	69	gGg/gAg	0	1	1	UPI00001B2954	0	NA	ENST00000570137		ENSG00000166446	23030		54	0.345		HGNC	p.G69E		CDYL2		SNV							ENST00000566173	protein_coding	getma.org/?cm=var&var=hg19,16,80718845,C,T&fts=all				G/E		T	neutral	362/8159		getma.org/?cm=msa&ty=f&p=CDYL2_HUMAN&rb=58&re=252&var=G69E	tolerated(0.42)				YES	CDYL2,missense_variant,p.Gly69Glu,ENST00000570137,NM_152342.2;CDYL2,missense_variant,p.Gly69Glu,ENST00000566173,;CDYL2,missense_variant,p.Gly69Glu,ENST00000563890,;CDYL2,missense_variant,p.Gly69Glu,ENST00000562812,;CDYL2,non_coding_transcript_exon_variant,,ENST00000562753,;							MODERATE	206/1521	G69E	CDYL2_HUMAN			Transcript		possibly_damaging(0.717)	.	ENSP00000476295		CCDS32493.1			1	
SPNS3	0	LGGM	GRCh37	17	4352604	4352604	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	7	.	.	ENST00000355530.2:c.845C>T	p.Pro282Leu	p.P282L	ENST00000355530	NM_182538.4	282	cCc/cTc	0	1	1	UPI00001971EC	0	NA	ENST00000355530		ENSG00000182557	28433		19	3.305		HGNC	p.P282L		SPNS3		SNV							ENST00000355530	protein_coding	getma.org/?cm=var&var=hg19,17,4352604,C,T&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR24001:SF2,hmmpanther:PTHR24001,Pfam_domain:PF07690,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		P/L		T	medium	1125/2133		getma.org/?cm=msa&ty=f&p=SPNS3_HUMAN&rb=51&re=420&var=P282L	deleterious(0)				YES	SPNS3,missense_variant,p.Pro282Leu,ENST00000355530,NM_182538.4;SPNS3,missense_variant,p.Pro155Leu,ENST00000333476,;SPNS3,intron_variant,,ENST00000576069,;SPNS3,3_prime_UTR_variant,,ENST00000575194,;SPNS3,downstream_gene_variant,,ENST00000575185,;SPNS3,downstream_gene_variant,,ENST00000572078,;							MODERATE	845/1539	P282L	SPNS3_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000347721		CCDS11045.1			1	
IMPDH2	0	LGGM	GRCh37	3	49064291	49064291	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	145	7	.	.	ENST00000326739.4:c.648T>C	p.Asp216=	p.D216=	ENST00000326739	NM_000884.2	216	gaT/gaC	0	1	1	UPI000004A47A	0		ENST00000326739		ENSG00000178035	6053		152			HGNC	p.D191D		IMPDH2		SNV							ENST00000442157	protein_coding			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		D		G		688/1643				Q6RUP9_HUMAN,Q6RUP8_HUMAN			YES	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,;							LOW	648/1545		IMDH2_HUMAN			Transcript			.	ENSP00000321584		CCDS2786.1			1	
RNF31	0	LGGM	GRCh37	14	24629556	24629556	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	7	.	.	ENST00000324103.6:c.3105C>T	p.His1035=	p.H1035=	ENST00000324103	NM_017999.4	1035	caC/caT	0	1	1	UPI0000072F93	0		ENST00000324103		ENSG00000092098	16031		54			HGNC	p.H510H	rs770801272	RNF31		SNV			1				ENST00000558468	protein_coding			hmmpanther:PTHR16004,hmmpanther:PTHR16004:SF1		H		T		3425/3627	1.50E-05			H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN			YES	RNF31,synonymous_variant,p.=,ENST00000324103,NM_017999.4;RNF31,synonymous_variant,p.=,ENST00000559275,;RNF31,synonymous_variant,p.=,ENST00000382687,;RNF31,synonymous_variant,p.=,ENST00000560787,;RNF31,synonymous_variant,p.=,ENST00000559719,;IRF9,upstream_gene_variant,,ENST00000396864,NM_006084.4;IRF9,upstream_gene_variant,,ENST00000557894,;IRF9,upstream_gene_variant,,ENST00000560275,;IRF9,upstream_gene_variant,,ENST00000324076,;RNF31,downstream_gene_variant,,ENST00000560754,;IRF9,upstream_gene_variant,,ENST00000559284,;RNA5SP383,downstream_gene_variant,,ENST00000362934,;RP11-468E2.4,synonymous_variant,p.=,ENST00000558468,;RNF31,3_prime_UTR_variant,,ENST00000491351,;RNF31,3_prime_UTR_variant,,ENST00000559449,;RNF31,3_prime_UTR_variant,,ENST00000483895,;RNF31,non_coding_transcript_exon_variant,,ENST00000559071,;RNF31,non_coding_transcript_exon_variant,,ENST00000559491,;RNF31,non_coding_transcript_exon_variant,,ENST00000560631,;IRF9,upstream_gene_variant,,ENST00000561415,;IRF9,upstream_gene_variant,,ENST00000561342,;IRF9,upstream_gene_variant,,ENST00000560542,;IRF9,upstream_gene_variant,,ENST00000560852,;IRF9,upstream_gene_variant,,ENST00000560365,;IRF9,upstream_gene_variant,,ENST00000561412,;RNF31,downstream_gene_variant,,ENST00000558452,;IRF9,upstream_gene_variant,,ENST00000559863,;IRF9,upstream_gene_variant,,ENST00000559229,;IRF9,upstream_gene_variant,,ENST00000561009,;	0.000232						LOW	3105/3219		RNF31_HUMAN			Transcript			.	ENSP00000315112	2.48E-05	CCDS41931.1			1	
DSCAML1	0	LGGM	GRCh37	11	117329618	117329618	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	7	.	.	ENST00000321322.6:c.3600C>A	p.Gly1200=	p.G1200=	ENST00000321322	NM_020693.2	1200	ggC/ggA	0	1	1	UPI00000726E2	0		ENST00000321322		ENSG00000177103	14656		48			HGNC	p.G930G		DSCAML1		SNV							ENST00000527706	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF171,SMART_domains:SM00060,Superfamily_domains:SSF49265		G		T		3602/6899							YES	DSCAML1,synonymous_variant,p.=,ENST00000321322,NM_020693.2;DSCAML1,synonymous_variant,p.=,ENST00000527706,;							LOW	3600/6342		DSCL1_HUMAN			Transcript			.	ENSP00000315465		CCDS8384.1			1	
DZIP3	0	LGGM	GRCh37	3	108403122	108403122	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	169	7	.	.	ENST00000361582.3:c.2943T>G	p.Thr981=	p.T981=	ENST00000361582	NM_014648.3	981	acT/acG	0	1	1	UPI000006E7D4	0		ENST00000361582		ENSG00000198919	30938		176			HGNC	p.T981T		DZIP3		SNV							ENST00000463306	protein_coding			hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF15		T		G		3173/5350				Q5MY58_HUMAN,D3DN61_HUMAN,C9JRX4_HUMAN,C9J9M8_HUMAN,C9J702_HUMAN			YES	DZIP3,synonymous_variant,p.=,ENST00000361582,NM_014648.3;DZIP3,synonymous_variant,p.=,ENST00000463306,;DZIP3,3_prime_UTR_variant,,ENST00000495008,;							LOW	2943/3627		DZIP3_HUMAN			Transcript			.	ENSP00000355028		CCDS2952.1			1	
JAK1	0	LGGM	GRCh37	1	65349060	65349060	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	7	.	.	ENST00000342505.4:c.105G>A	p.Gly35=	p.G35=	ENST00000342505	NM_002227.2	35	ggG/ggA	0	1	1	UPI0000054C7D	0		ENST00000342505		ENSG00000162434	6190		48			HGNC	p.G35G		JAK1		SNV							ENST00000342505	protein_coding			PROSITE_profiles:PS50057,hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF67,SMART_domains:SM00295,PIRSF_domain:PIRSF000636		G		T		354/5047							YES	JAK1,synonymous_variant,p.=,ENST00000342505,NM_002227.2;JAK1,upstream_gene_variant,,ENST00000467764,;							LOW	105/3465		JAK1_HUMAN			Transcript			.	ENSP00000343204		CCDS41346.1			1	
MAPK4	0	LGGM	GRCh37	18	48190603	48190603	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	7	.	.	ENST00000400384.2:c.275A>T	p.Gln92Leu	p.Q92L	ENST00000400384	NM_002747.3	92	cAg/cTg	0	1	1	UPI0000201D20	0	getma.org/pdb.php?prot=MK04_HUMAN&from=20&to=312&var=Q92L	ENST00000400384		ENSG00000141639	6878		18	0.99		HGNC	p.Q92L		MAPK4		SNV							ENST00000588540	protein_coding	getma.org/?cm=var&var=hg19,18,48190603,A,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF25,Gene3D:3.30.200.20,Pfam_domain:PF00069,SMART_domains:SM00220,Superfamily_domains:SSF56112,Prints_domain:PR01771		Q/L		T	low	1311/4770		getma.org/?cm=msa&ty=f&p=MK04_HUMAN&rb=20&re=312&var=Q92L	tolerated(0.46)	Q0VG04_HUMAN,B4E104_HUMAN,B4DEW2_HUMAN			YES	MAPK4,missense_variant,p.Gln92Leu,ENST00000400384,NM_002747.3;MAPK4,missense_variant,p.Gln92Leu,ENST00000592595,;MAPK4,missense_variant,p.Gln92Leu,ENST00000588540,;MAPK4,intron_variant,,ENST00000540640,;MAPK4,upstream_gene_variant,,ENST00000587823,;MAPK4,downstream_gene_variant,,ENST00000586735,;							MODERATE	275/1764	Q92L	MK04_HUMAN			Transcript		benign(0.197)	.	ENSP00000383234		CCDS42437.1			1	
NUB1	0	LGGM	GRCh37	7	151052868	151052868	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	7	.	.	ENST00000568733.1:c.502G>A	p.Glu168Lys	p.E168K	ENST00000568733		168	Gaa/Aaa	0	1	1	UPI00021CF908	0	getma.org/pdb.php?prot=NUB1_HUMAN&from=1&to=200&var=E144K	ENST00000568733		ENSG00000013374	17623		72	2.175		HGNC	p.E144K		NUB1		SNV							ENST00000355851	protein_coding	getma.org/?cm=var&var=hg19,7,151052868,G,A&fts=all		hmmpanther:PTHR12948,Superfamily_domains:SSF54236		E/K		A	medium	568/3210		getma.org/?cm=msa&ty=f&p=NUB1_HUMAN&rb=1&re=200&var=E144K	tolerated(0.07)	H3BM74_HUMAN,C9JRT6_HUMAN,C9J7X7_HUMAN			YES	NUB1,missense_variant,p.Glu168Lys,ENST00000568733,;NUB1,missense_variant,p.Glu168Lys,ENST00000413040,;NUB1,missense_variant,p.Glu144Lys,ENST00000355851,NM_001243351.1;NUB1,missense_variant,p.Glu144Lys,ENST00000566856,NM_016118.4;NUB1,missense_variant,p.Glu144Lys,ENST00000483358,;NUB1,missense_variant,p.Glu144Lys,ENST00000470229,;NUB1,non_coding_transcript_exon_variant,,ENST00000477666,;NUB1,missense_variant,p.Glu144Lys,ENST00000468404,;NUB1,3_prime_UTR_variant,,ENST00000470316,;NUB1,non_coding_transcript_exon_variant,,ENST00000480907,;NUB1,non_coding_transcript_exon_variant,,ENST00000493588,;NUB1,upstream_gene_variant,,ENST00000497987,;							MODERATE	502/1920	E144K				Transcript		benign(0.133)	.	ENSP00000454264		CCDS59089.1			1	
KCNA4	0	LGGM	GRCh37	11	30034082	30034082	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	7	.	.	ENST00000328224.6:c.144A>T	p.Thr48=	p.T48=	ENST00000328224	NM_002233.3	48	acA/acT	0	1	1	UPI00001649FF	0		ENST00000328224		ENSG00000182255	6222		27			HGNC	p.T48T		KCNA4		SNV							ENST00000328224	protein_coding			Low_complexity_(Seg):seg,Gene3D:1kn7A00,Pfam_domain:PF07941,Prints_domain:PR01511		T		A		1378/4172							YES	KCNA4,synonymous_variant,p.=,ENST00000328224,NM_002233.3;KCNA4,downstream_gene_variant,,ENST00000526518,;							LOW	144/1962		KCNA4_HUMAN			Transcript			.	ENSP00000328511		CCDS41629.1			1	
DDX60	0	LGGM	GRCh37	4	169189113	169189113	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	7	.	.	ENST00000393743.3:c.2808G>A	p.Trp936Ter	p.W936*	ENST00000393743	NM_017631.5	936	tgG/tgA	0	1	1	UPI000020B6AB	0	NA	ENST00000393743		ENSG00000137628	25942		51	0		HGNC	p.W936X		DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169189113,C,T&fts=all		PROSITE_profiles:PS51192,hmmpanther:PTHR11752:SF61,hmmpanther:PTHR11752,SMART_domains:SM00487		W/*		T	NA	3100/6071		NA		Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,stop_gained,p.Trp936Ter,ENST00000393743,NM_017631.5;DDX60,upstream_gene_variant,,ENST00000505393,;DDX60,stop_gained,p.Trp27Ter,ENST00000513997,;							HIGH	2808/5139	W936*	DDX60_HUMAN			Transcript			.	ENSP00000377344		CCDS34097.1			1	
CFH	0	LGGM	GRCh37	1	196716360	196716360	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	91	7	.	.	ENST00000367429.4:c.3613T>C	p.Tyr1205His	p.Y1205H	ENST00000367429	NM_000186.3	1205	Tat/Cat	0	1	1	UPI000013C4D1	0	getma.org/pdb.php?prot=CFAH_HUMAN&from=1167&to=1228&var=Y1205H	ENST00000367429		ENSG00000000971	4883		98	1.735		HGNC	p.Y1205H	rs762564071	CFH	6.06E-05	SNV			1				ENST00000367429	protein_coding	getma.org/?cm=var&var=hg19,1,196716360,T,C&fts=all		Pfam_domain:PF00084,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF310,SMART_domains:SM00032,Superfamily_domains:SSF57535		Y/H		C	low	3853/4127		getma.org/?cm=msa&ty=f&p=CFAH_HUMAN&rb=1167&re=1228&var=Y1205H	deleterious(0.05)				YES	CFH,missense_variant,p.Tyr1205His,ENST00000367429,NM_000186.3;CFH,non_coding_transcript_exon_variant,,ENST00000466229,;							MODERATE	3613/3696	Y1205H	CFAH_HUMAN			Transcript		benign(0.026)	.	ENSP00000356399	8.24E-06	CCDS1385.1			1	
XIRP1	0	LGGM	GRCh37	3	39230478	39230478	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	7	.	.	ENST00000340369.3:c.459T>C	p.Val153=	p.V153=	ENST00000340369	NM_194293.2	153	gtT/gtC	0	1	1	UPI00001BFB06	0		ENST00000340369		ENSG00000168334	14301		40			HGNC	p.V153V	rs777493524	XIRP1	6.06E-05	SNV							ENST00000340369	protein_coding			Pfam_domain:PF08043,PROSITE_profiles:PS51389,hmmpanther:PTHR22591		V		G		688/6460							YES	XIRP1,synonymous_variant,p.=,ENST00000340369,NM_194293.2;XIRP1,synonymous_variant,p.=,ENST00000396251,NM_001198621.1;XIRP1,intron_variant,,ENST00000421646,;							LOW	459/5532		XIRP1_HUMAN			Transcript			.	ENSP00000343140	8.24E-06	CCDS2683.1			1	
LMBRD1	0	LGGM	GRCh37	6	70462207	70462207	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	7	.	.	ENST00000370577.3:c.349C>T	p.Pro117Ser	p.P117S	ENST00000370577	NM_018368.3	117	Cct/Tct	0	1	1	UPI000003ED25	0	NA	ENST00000370577		ENSG00000168216	23038		30	2.79		HGNC	p.P117S		LMBRD1		SNV			1				ENST00000472827	protein_coding	getma.org/?cm=var&var=hg19,6,70462207,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR16130:SF2,hmmpanther:PTHR16130,Pfam_domain:PF04791		P/S		A	medium	579/2209		getma.org/?cm=msa&ty=f&p=LMBD1_HUMAN&rb=15&re=292&var=P117S	deleterious(0)				YES	LMBRD1,missense_variant,p.Pro117Ser,ENST00000370577,NM_018368.3;LMBRD1,missense_variant,p.Pro44Ser,ENST00000370570,;LMBRD1,missense_variant,p.Pro117Ser,ENST00000472827,;							MODERATE	349/1623	P117S	LMBD1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000359609		CCDS4969.1			1	
RTN4	0	LGGM	GRCh37	2	55253992	55253992	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	136	7	.	.	ENST00000337526.6:c.1243A>G	p.Asn415Asp	p.N415D	ENST00000337526	NM_020532.4	415	Aac/Gac	0	1	1	UPI000000D81D	0	NA	ENST00000337526		ENSG00000115310	14085		143	0		HGNC	p.N209D		RTN4		SNV							ENST00000404909	protein_coding	getma.org/?cm=var&var=hg19,2,55253992,T,C&fts=all		hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25		N/D		C	neutral	1487/4790		getma.org/?cm=msa&ty=f&p=RTN4_HUMAN&rb=401&re=600&var=N415D	deleterious(0)	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN			YES	RTN4,missense_variant,p.Asn415Asp,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Asn209Asp,ENST00000394611,;RTN4,missense_variant,p.Asn209Asp,ENST00000357376,NM_207521.1;RTN4,missense_variant,p.Asn209Asp,ENST00000404909,;RTN4,missense_variant,p.Asn209Asp,ENST00000405240,;RTN4,missense_variant,p.Asn183Asp,ENST00000354474,;RTN4,intron_variant,,ENST00000357732,NM_207520.1;RTN4,intron_variant,,ENST00000317610,NM_153828.2;RTN4,intron_variant,,ENST00000402434,;RTN4,intron_variant,,ENST00000438462,;RTN4,downstream_gene_variant,,ENST00000427710,;							MODERATE	1243/3579	N415D	RTN4_HUMAN			Transcript		benign(0.014)	.	ENSP00000337838		CCDS42684.1			1	
ZNF83	0	LGGM	GRCh37	19	53116487	53116487	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	7	.	.	ENST00000597597.1:c.1331T>A	p.Leu444Gln	p.L444Q	ENST00000597597		444	cTa/cAa	0	1		UPI000013E6CF	0	getma.org/pdb.php?prot=ZNF83_HUMAN&from=443&to=467&var=L444Q	ENST00000301096		ENSG00000167766	13158		49	3.66		HGNC	p.L444Q		ZNF83		SNV							ENST00000544146	protein_coding	getma.org/?cm=var&var=hg19,19,53116487,A,T&fts=all		Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF108,SMART_domains:SM00355,Superfamily_domains:SSF57667		L/Q		T	high	1732/2599		getma.org/?cm=msa&ty=f&p=ZNF83_HUMAN&rb=423&re=487&var=L444Q	deleterious(0.01)	H9XFB5_HUMAN				ZNF83,missense_variant,p.Leu444Gln,ENST00000597597,;ZNF83,missense_variant,p.Leu444Gln,ENST00000541777,;ZNF83,missense_variant,p.Leu444Gln,ENST00000544146,NM_001105549.1;ZNF83,missense_variant,p.Leu444Gln,ENST00000536937,NM_001105551.1,NM_001277952.1,NM_001105550.1;ZNF83,missense_variant,p.Leu444Gln,ENST00000545872,NM_001277951.1;ZNF83,missense_variant,p.Leu444Gln,ENST00000301096,NM_018300.3,NM_001277947.1;ZNF83,missense_variant,p.Leu416Gln,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,;							MODERATE	1331/1551	L444Q	ZNF83_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000301096		CCDS12854.1			1	
DSEL	0	LGGM	GRCh37	18	65179188	65179188	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	115	7	.	.	ENST00000310045.7:c.2688C>A	p.Ala896=	p.A896=	ENST00000310045	NM_032160.2	896	gcC/gcA	0	1	1	UPI00000740A1	0		ENST00000310045		ENSG00000171451	18144		122			HGNC	p.A896A		DSEL		SNV							ENST00000310045	protein_coding			hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Pfam_domain:PF00685,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		A		T		4162/9531							YES	DSEL,synonymous_variant,p.=,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,;							LOW	2688/3669		DSEL_HUMAN			Transcript			.	ENSP00000310565		CCDS11995.1			1	
FOXI1	0	LGGM	GRCh37	5	169533515	169533515	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	7	.	.	ENST00000306268.6:c.554C>T	p.Pro185Leu	p.P185L	ENST00000306268		185	cCc/cTc	0	1	1	UPI000013EB16	0	getma.org/pdb.php?prot=FOXI1_HUMAN&from=123&to=218&var=P185L	ENST00000306268		ENSG00000168269	3815		24	2.595		HGNC	p.P185L		FOXI1		SNV			1				ENST00000306268	protein_coding	getma.org/?cm=var&var=hg19,5,169533515,C,T&fts=all		PROSITE_profiles:PS50039,hmmpanther:PTHR25042:SF11,hmmpanther:PTHR25042,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785		P/L		T	medium	615/1990		getma.org/?cm=msa&ty=f&p=FOXI1_HUMAN&rb=123&re=218&var=P185L	deleterious(0)	E0XEN6_HUMAN			YES	FOXI1,missense_variant,p.Pro185Leu,ENST00000449804,NM_012188.4,NM_144769.2;FOXI1,missense_variant,p.Pro185Leu,ENST00000306268,;							MODERATE	554/1137	P185L	FOXI1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304286		CCDS4372.1			1	
CCDC87	0	LGGM	GRCh37	11	66360131	66360131	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	7	.	.	ENST00000333861.3:c.356A>G	p.Tyr119Cys	p.Y119C	ENST00000333861	NM_018219.2	119	tAc/tGc	0	1	1	UPI000013EFC2	0	NA	ENST00000333861		ENSG00000182791	25579		25	2.08		HGNC	p.Y119C	rs756349522	CCDC87	6.07E-05	SNV							ENST00000333861	protein_coding	getma.org/?cm=var&var=hg19,11,66360131,T,C&fts=all		hmmpanther:PTHR16078,hmmpanther:PTHR16078:SF1		Y/C		C	medium	424/2915		getma.org/?cm=msa&ty=f&p=CCD87_HUMAN&rb=45&re=643&var=Y119C	deleterious(0.01)				YES	CCDC87,missense_variant,p.Tyr119Cys,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,;							MODERATE	356/2550	Y119C	CCD87_HUMAN			Transcript		benign(0.007)	.	ENSP00000328487	8.24E-06	CCDS8145.1			1	
HEMGN	0	LGGM	GRCh37	9	100692749	100692749	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	132	7	.	.	ENST00000259456.3:c.928C>A	p.Leu310Ile	p.L310I	ENST00000259456	NM_018437.4	310	Ctt/Att	0	1	1	UPI000004D311	0	NA	ENST00000259456		ENSG00000136929	17509		139	1.61		HGNC	p.L310I		HEMGN		SNV							ENST00000259456	protein_coding	getma.org/?cm=var&var=hg19,9,100692749,G,T&fts=all		hmmpanther:PTHR15993:SF6,hmmpanther:PTHR15993		L/I		T	low	1072/2192		getma.org/?cm=msa&ty=f&p=HEMGN_HUMAN&rb=1&re=483&var=L310I	tolerated(0.16)				YES	HEMGN,missense_variant,p.Leu310Ile,ENST00000259456,NM_018437.4,NM_197978.2;							MODERATE	928/1455	L310I	HEMGN_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000259456		CCDS6731.1			1	
NLRP4	0	LGGM	GRCh37	19	56370345	56370345	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	7	.	.	ENST00000301295.6:c.1586A>T	p.Gln529Leu	p.Q529L	ENST00000301295	NM_134444.4	529	cAg/cTg	0	1	1	UPI000013E6FD	0	NA	ENST00000301295		ENSG00000160505	22943		56	1.59		HGNC	p.Q454L		NLRP4		SNV							ENST00000587891	protein_coding	getma.org/?cm=var&var=hg19,19,56370345,A,T&fts=all		hmmpanther:PTHR24106:SF8,hmmpanther:PTHR24106		Q/L		T	low	2008/3670		getma.org/?cm=msa&ty=f&p=NALP4_HUMAN&rb=519&re=718&var=Q529L	deleterious(0.01)	K7ES09_HUMAN			YES	NLRP4,missense_variant,p.Gln529Leu,ENST00000301295,NM_134444.4;NLRP4,missense_variant,p.Gln529Leu,ENST00000346986,;NLRP4,missense_variant,p.Gln454Leu,ENST00000587891,;NLRP4,missense_variant,p.Gln95Leu,ENST00000589437,;NLRP4,downstream_gene_variant,,ENST00000587464,;							MODERATE	1586/2985	Q529L	NALP4_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000301295		CCDS12936.1			1	
PLXNA4	0	LGGM	GRCh37	7	131849022	131849022	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	7	.	.	ENST00000359827.3:c.4379C>T	p.Ser1460Phe	p.S1460F	ENST00000359827		1460	tCc/tTc	0	1		UPI000004E55B	0	getma.org/pdb.php?prot=PLXA4_HUMAN&from=1310&to=1864&var=S1460F	ENST00000321063		ENSG00000221866	9102		23	0.69		HGNC	p.S1460F		PLXNA4		SNV							ENST00000359827	protein_coding	getma.org/?cm=var&var=hg19,7,131849022,G,A&fts=all		hmmpanther:PTHR22625:SF34,hmmpanther:PTHR22625,Pfam_domain:PF08337,Superfamily_domains:SSF48350		S/F		A	neutral	4608/13061		getma.org/?cm=msa&ty=f&p=PLXA4_HUMAN&rb=1310&re=1864&var=S1460F	deleterious(0.01)					PLXNA4,missense_variant,p.Ser1460Phe,ENST00000359827,;PLXNA4,missense_variant,p.Ser1460Phe,ENST00000321063,NM_020911.1;							MODERATE	4379/5685	S1460F	PLXA4_HUMAN			Transcript		possibly_damaging(0.843)	.	ENSP00000323194		CCDS43646.1			1	
PTTG1IP	0	LGGM	GRCh37	21	46276233	46276233	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	7	.	.	ENST00000330938.3:c.324C>T	p.Thr108=	p.T108=	ENST00000330938	NM_004339.3	108	acC/acT	0	1	1	UPI00000015F0	0		ENST00000330938		ENSG00000183255	13524		16			HGNC	p.T108T		PTTG1IP		SNV							ENST00000330938	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR15191,hmmpanther:PTHR15191:SF2		T		A		545/2760				A8K274_HUMAN			YES	PTTG1IP,synonymous_variant,p.=,ENST00000330938,NM_004339.3;PTTG1IP,synonymous_variant,p.=,ENST00000397886,;PTTG1IP,intron_variant,,ENST00000397887,;PTTG1IP,intron_variant,,ENST00000445724,NM_001286822.1;PTTG1IP,non_coding_transcript_exon_variant,,ENST00000494690,;PTTG1IP,downstream_gene_variant,,ENST00000480234,;PTTG1IP,non_coding_transcript_exon_variant,,ENST00000474737,;							LOW	324/543		PTTG_HUMAN			Transcript			.	ENSP00000328325		CCDS13715.1			1	
ACOT12	0	LGGM	GRCh37	5	80681594	80681594	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	7	.	.	ENST00000307624.3:c.179A>T	p.Gln60Leu	p.Q60L	ENST00000307624	NM_130767.2	60	cAg/cTg	0	1	1	UPI0000126D7B	0	getma.org/pdb.php?prot=ACO12_HUMAN&from=24&to=100&var=Q60L	ENST00000307624		ENSG00000172497	24436		23	0.575		HGNC	p.Q60L		ACOT12		SNV							ENST00000307624	protein_coding	getma.org/?cm=var&var=hg19,5,80681594,T,A&fts=all		hmmpanther:PTHR11049,hmmpanther:PTHR11049:SF3,Pfam_domain:PF03061,Gene3D:3.10.129.10,Superfamily_domains:SSF54637		Q/L		A	neutral	208/2086		getma.org/?cm=msa&ty=f&p=ACO12_HUMAN&rb=24&re=100&var=Q60L	tolerated(0.37)				YES	ACOT12,missense_variant,p.Gln60Leu,ENST00000307624,NM_130767.2;ACOT12,missense_variant,p.Gln60Leu,ENST00000513751,;							MODERATE	179/1668	Q60L	ACO12_HUMAN			Transcript		benign(0.056)	.	ENSP00000303246		CCDS4055.1			1	
PCNA	0	LGGM	GRCh37	20	5098306	5098306	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	7	.	.	ENST00000379160.3:c.392A>T	p.Gln131Leu	p.Q131L	ENST00000379160	NM_002592.2	131	cAg/cTg	0	1		UPI0000000AAB	0	getma.org/pdb.php?prot=PCNA_HUMAN&from=127&to=254&var=Q131L	ENST00000379143		ENSG00000132646	8729		33	1.59		HGNC	p.Q131L		PCNA		SNV							ENST00000379160	protein_coding	getma.org/?cm=var&var=hg19,20,5098306,T,A&fts=all		HAMAP:MF_00317,hmmpanther:PTHR11352,Pfam_domain:PF02747,Gene3D:3.70.10.10,TIGRFAM_domain:TIGR00590,Superfamily_domains:SSF55979,Prints_domain:PR00339		Q/L		A	low	620/1344		getma.org/?cm=msa&ty=f&p=PCNA_HUMAN&rb=127&re=254&var=Q131L	deleterious(0)					PCNA,missense_variant,p.Gln131Leu,ENST00000379160,NM_002592.2;PCNA,missense_variant,p.Gln131Leu,ENST00000379143,NM_182649.1;TMEM230,upstream_gene_variant,,ENST00000379286,NM_001009924.1;TMEM230,upstream_gene_variant,,ENST00000379283,;TMEM230,upstream_gene_variant,,ENST00000379299,NM_014145.4;TMEM230,upstream_gene_variant,,ENST00000379279,;TMEM230,upstream_gene_variant,,ENST00000342308,NM_001009923.1;TMEM230,upstream_gene_variant,,ENST00000379277,;TMEM230,upstream_gene_variant,,ENST00000202834,NM_001009925.1;TMEM230,upstream_gene_variant,,ENST00000379276,;SNORA26,downstream_gene_variant,,ENST00000391215,;Y_RNA,upstream_gene_variant,,ENST00000516558,;TMEM230,upstream_gene_variant,,ENST00000492419,;							MODERATE	392/786	Q131L	PCNA_HUMAN			Transcript		benign(0.059)	.	ENSP00000368438		CCDS13087.1			1	
PTPRM	0	LGGM	GRCh37	18	8376586	8376586	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	7	.	.	ENST00000580170.1:c.3453G>A	p.Val1151=	p.V1151=	ENST00000580170	NM_001105244.1	1151	gtG/gtA	0	1		UPI00002019A9	0		ENST00000332175		ENSG00000173482	9675	0.000692	29			HGNC	p.V1152V	rs766486191	PTPRM		SNV							ENST00000400060	protein_coding			Gene3D:3.90.190.10,Pfam_domain:PF00102,Prints_domain:PR00700,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF206,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		V		A		4451/6095				Q49AC9_HUMAN,E7EPS8_HUMAN				PTPRM,synonymous_variant,p.=,ENST00000332175,NM_002845.3;PTPRM,synonymous_variant,p.=,ENST00000580170,NM_001105244.1;PTPRM,synonymous_variant,p.=,ENST00000400053,;PTPRM,synonymous_variant,p.=,ENST00000444013,;PTPRM,synonymous_variant,p.=,ENST00000400060,;PTPRM,synonymous_variant,p.=,ENST00000583153,;PTPRM,non_coding_transcript_exon_variant,,ENST00000577827,;							LOW	3414/4359		PTPRM_HUMAN			Transcript			common_variant	ENSP00000331418	6.59E-05	CCDS11840.1			1	
OLFML2B	0	LGGM	GRCh37	1	161954006	161954006	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	7	.	.	ENST00000294794.3:c.1712A>T	p.Tyr571Phe	p.Y571F	ENST00000294794	NM_015441.1	571	tAc/tTc	0	1	1	UPI00001D7DE0	0	NA	ENST00000294794		ENSG00000162745	24558		35	1.865		HGNC	p.Y572F		OLFML2B		SNV							ENST00000367940	protein_coding	getma.org/?cm=var&var=hg19,1,161954006,T,A&fts=all		Pfam_domain:PF02191,PROSITE_profiles:PS51132,hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37,SMART_domains:SM00284		Y/F		A	low	2136/3160		getma.org/?cm=msa&ty=f&p=OLM2B_HUMAN&rb=497&re=750&var=Y571F	tolerated(0.1)	H0YEW8_HUMAN,H0YE85_HUMAN			YES	OLFML2B,missense_variant,p.Tyr571Phe,ENST00000294794,NM_015441.1;OLFML2B,missense_variant,p.Tyr572Phe,ENST00000367940,;OLFML2B,missense_variant,p.Tyr54Phe,ENST00000367938,;OLFML2B,upstream_gene_variant,,ENST00000525589,;OLFML2B,upstream_gene_variant,,ENST00000533556,;							MODERATE	1712/2253	Y571F	OLM2B_HUMAN			Transcript		benign(0.344)	.	ENSP00000294794		CCDS1236.1			1	
CFLAR	0	LGGM	GRCh37	2	202025339	202025339	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	7	.	.	ENST00000309955.3:c.978G>T	p.Gln326His	p.Q326H	ENST00000309955	NM_003879.5	326	caG/caT	0	1	1	UPI0000030475	0	getma.org/pdb.php?prot=CFLAR_HUMAN&from=259&to=477&var=Q326H	ENST00000309955		ENSG00000003402	1876		51	1.245		HGNC	p.Q326H		CFLAR		SNV							ENST00000457277	protein_coding	getma.org/?cm=var&var=hg19,2,202025339,G,T&fts=all		PROSITE_profiles:PS50208,hmmpanther:PTHR10454,Gene3D:3.40.50.1460,Pfam_domain:PF00656,SMART_domains:SM00115,Superfamily_domains:SSF52129		Q/H		T	low	1493/14672		getma.org/?cm=msa&ty=f&p=CFLAR_HUMAN&rb=259&re=477&var=Q326H	tolerated(0.47)	M0QYM0_HUMAN,C9JV51_HUMAN,C9JSU3_HUMAN,C9J4Q0_HUMAN,C9J408_HUMAN			YES	CFLAR,missense_variant,p.Gln326His,ENST00000309955,NM_003879.5,NM_001202515.1;CFLAR,missense_variant,p.Gln326His,ENST00000423241,NM_001127183.2;CFLAR,missense_variant,p.Gln291His,ENST00000341582,NM_001202516.1;CFLAR,missense_variant,p.Gln326His,ENST00000457277,;CFLAR,missense_variant,p.Gln326His,ENST00000340870,;CFLAR,missense_variant,p.Gln230His,ENST00000443227,NM_001202519.1,NM_001202517.1;CFLAR,missense_variant,p.Gln230His,ENST00000479953,NM_001202518.1;CFLAR,intron_variant,,ENST00000355558,;CFLAR-AS1,upstream_gene_variant,,ENST00000415011,;CFLAR,non_coding_transcript_exon_variant,,ENST00000474842,;CFLAR,downstream_gene_variant,,ENST00000439154,;AC007283.4,downstream_gene_variant,,ENST00000424739,;							MODERATE	978/1443	Q326H	CFLAR_HUMAN			Transcript		benign(0.013)	.	ENSP00000312455		CCDS2337.1			1	
MYH7	0	LGGM	GRCh37	14	23898188	23898188	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	7	.	.	ENST00000355349.3:c.1383C>T	p.Asp461=	p.D461=	ENST00000355349	NM_000257.2	461	gaC/gaT	0	1	1	UPI000014019B	0		ENST00000355349		ENSG00000092054	7577		42			HGNC	p.D461D	rs776583355	MYH7		SNV			1				ENST00000355349	protein_coding			Pfam_domain:PF00063,Prints_domain:PR00193,PROSITE_profiles:PS51456,hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF279,SMART_domains:SM00242,Superfamily_domains:SSF52540		D		A		1546/6087	3.00E-05			Q59EV3_HUMAN,L0L5E6_HUMAN,A8CLN2_HUMAN,A8CLL2_HUMAN,A6N931_HUMAN,A6N930_HUMAN			YES	MYH7,synonymous_variant,p.=,ENST00000355349,NM_000257.2;							LOW	1383/5808		MYH7_HUMAN			Transcript			.	ENSP00000347507	1.65E-05	CCDS9601.1			1	
MEX3B	0	LGGM	GRCh37	15	82336212	82336212	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	7	.	.	ENST00000329713.4:c.999T>C	p.Asn333=	p.N333=	ENST00000329713	NM_032246.4	333	aaT/aaC	0	1	1	UPI00001982CC	0		ENST00000329713		ENSG00000183496	25297		24			HGNC	p.N333N		MEX3B		SNV							ENST00000329713	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23285,hmmpanther:PTHR23285:SF5		N		G		1435/3528							YES	MEX3B,synonymous_variant,p.=,ENST00000329713,NM_032246.4;MEX3B,3_prime_UTR_variant,,ENST00000558133,;AC026956.1,upstream_gene_variant,,ENST00000410589,;							LOW	999/1710		MEX3B_HUMAN			Transcript			.	ENSP00000329918		CCDS10319.1			1	
AKR7L	0	LGGM	GRCh37	1	19593875	19593875	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	7	.	.	ENST00000420396.2:c.381G>A	p.Gly127=	p.G127=	ENST00000420396		127	ggG/ggA	0	1	1	UPI0000236FED	0		ENST00000420396		ENSG00000211454	24056		37			HGNC	p.G127G		AKR7L		SNV							ENST00000420396	protein_coding			Gene3D:3.20.20.100,Pfam_domain:PF00248,hmmpanther:PTHR11732,hmmpanther:PTHR11732:SF181,Low_complexity_(Seg):seg,Superfamily_domains:SSF51430		G		T		718/2115							YES	AKR7L,synonymous_variant,p.=,ENST00000420396,;AKR7L,downstream_gene_variant,,ENST00000493176,;AKR7L,missense_variant,p.Ala196Thr,ENST00000457194,;AKR7L,synonymous_variant,p.=,ENST00000429712,;							LOW	381/462		ARK74_HUMAN			Transcript			.	ENSP00000406430					1	
ENKUR	0	LGGM	GRCh37	10	25284624	25284624	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	7	.	.	ENST00000331161.4:c.398A>G	p.Lys133Arg	p.K133R	ENST00000331161	NM_145010.3	133	aAg/aGg	0	1	1	UPI00000728D2	0	NA	ENST00000331161		ENSG00000151023	28388		77	0.4		HGNC	p.K133R		ENKUR		SNV							ENST00000376363	protein_coding	getma.org/?cm=var&var=hg19,10,25284624,T,C&fts=all		hmmpanther:PTHR21490:SF0,hmmpanther:PTHR21490		K/R		C	neutral	618/3382		getma.org/?cm=msa&ty=f&p=ENKUR_HUMAN&rb=1&re=151&var=K133R	tolerated(0.11)	L7N489_HUMAN			YES	ENKUR,missense_variant,p.Lys133Arg,ENST00000331161,NM_145010.3;ENKUR,missense_variant,p.Lys133Arg,ENST00000376363,;ENKUR,missense_variant,p.Lys37Arg,ENST00000483339,;ENKUR,missense_variant,p.Lys133Arg,ENST00000496261,;							MODERATE	398/771	K133R	ENKUR_HUMAN			Transcript		benign(0.049)	.	ENSP00000331044		CCDS7146.1			1	
CCDC43	0	LGGM	GRCh37	17	42759400	42759400	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	110	7	.	.	ENST00000315286.8:c.399C>A	p.Ala133=	p.A133=	ENST00000315286	NM_144609.2	133	gcC/gcA	0	1	1	UPI00002013C0	0		ENST00000315286		ENSG00000180329	26472		117			HGNC	p.A133A		CCDC43		SNV							ENST00000588210	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR31684		A		T		408/2082							YES	CCDC43,synonymous_variant,p.=,ENST00000315286,NM_144609.2;CCDC43,synonymous_variant,p.=,ENST00000588210,;CCDC43,synonymous_variant,p.=,ENST00000457422,NM_001099225.1;CCDC43,intron_variant,,ENST00000588687,;C17orf104,intron_variant,,ENST00000588805,;CCDC43,non_coding_transcript_exon_variant,,ENST00000592333,;C17orf104,intron_variant,,ENST00000472403,;							LOW	399/675		CCD43_HUMAN			Transcript			.	ENSP00000323782		CCDS45704.1			1	
ZCCHC6	0	LGGM	GRCh37	9	88960689	88960689	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	7	.	.	ENST00000375963.3:c.714C>T	p.Asn238=	p.N238=	ENST00000375963	NM_001185059.1	238	aaC/aaT	0	1	1	UPI00004588F6	0		ENST00000375963		ENSG00000083223	25817		38			HGNC	p.N238N		ZCCHC6		SNV							ENST00000375963	protein_coding			hmmpanther:PTHR12271,hmmpanther:PTHR12271:SF34		N		A		887/5379							YES	ZCCHC6,synonymous_variant,p.=,ENST00000375961,;ZCCHC6,synonymous_variant,p.=,ENST00000375963,NM_001185059.1,NM_024617.3;ZCCHC6,synonymous_variant,p.=,ENST00000375960,NM_001185074.1;ZCCHC6,synonymous_variant,p.=,ENST00000375947,;ZCCHC6,5_prime_UTR_variant,,ENST00000277141,;ZCCHC6,upstream_gene_variant,,ENST00000375948,;							LOW	714/4488		TUT7_HUMAN			Transcript			.	ENSP00000365130		CCDS35057.1			1	
FOXK1	0	LGGM	GRCh37	7	4798745	4798745	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	7	.	.	ENST00000328914.4:c.1308C>T	p.Thr436=	p.T436=	ENST00000328914	NM_001037165.1	436	acC/acT	0	1	1	UPI00004158EB	0		ENST00000328914		ENSG00000164916	23480		37			HGNC	p.T436T	rs776720725	FOXK1		SNV							ENST00000328914	protein_coding			hmmpanther:PTHR11829:SF107,hmmpanther:PTHR11829		T		T		1308/11181	3.08E-05			B3KV39_HUMAN			YES	FOXK1,synonymous_variant,p.=,ENST00000328914,NM_001037165.1;FOXK1,synonymous_variant,p.=,ENST00000446823,;FOXK1,downstream_gene_variant,,ENST00000460979,;FOXK1,non_coding_transcript_exon_variant,,ENST00000496023,;							LOW	1308/2202		FOXK1_HUMAN			Transcript			.	ENSP00000328720	1.65E-05	CCDS34591.1			1	
ABCF2	0	LGGM	GRCh37	7	150915167	150915167	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	7	.	.	ENST00000222388.2:c.1338G>A	p.Glu446=	p.E446=	ENST00000222388	NM_005692.4	446	gaG/gaA	0	1		UPI0000000C30	0		ENST00000287844		ENSG00000033050	71		35			HGNC	p.E446E		ABCF2		SNV							ENST00000222388	protein_coding			Low_complexity_(Seg):seg,PROSITE_profiles:PS50893,hmmpanther:PTHR19211,hmmpanther:PTHR19211:SF15,Gene3D:3.40.50.300,Pfam_domain:PF00005,SMART_domains:SM00382,Superfamily_domains:SSF52540		E		T		1448/3546				C9JZV3_HUMAN,C9JHK9_HUMAN				ABCF2,splice_region_variant,p.=,ENST00000287844,NM_007189.2;ABCF2,splice_region_variant,p.=,ENST00000222388,NM_005692.4;ABCF2,downstream_gene_variant,,ENST00000468073,;ABCF2,downstream_gene_variant,,ENST00000473874,;							LOW	1338/1872		ABCF2_HUMAN			Transcript			.	ENSP00000287844		CCDS5923.1			1	
FBN3	0	LGGM	GRCh37	19	8176951	8176951	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	7	.	.	ENST00000600128.1:c.3871T>A	p.Cys1291Ser	p.C1291S	ENST00000600128		1291	Tgt/Agt	0	1		UPI000013D88F	0	getma.org/pdb.php?prot=FBN3_HUMAN&from=1280&to=1319&var=C1291S	ENST00000270509		ENSG00000142449	18794		37	4.505		HGNC	p.C1291S		FBN3		SNV							ENST00000600128	protein_coding	getma.org/?cm=var&var=hg19,19,8176951,A,T&fts=all		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		C/S		T	high	4157/9232		getma.org/?cm=msa&ty=f&p=FBN3_HUMAN&rb=1280&re=1319&var=C1291S	deleterious(0)					FBN3,missense_variant,p.Cys1291Ser,ENST00000600128,;FBN3,missense_variant,p.Cys1291Ser,ENST00000270509,NM_032447.3;FBN3,missense_variant,p.Cys1291Ser,ENST00000601739,;FBN3,upstream_gene_variant,,ENST00000594331,;							MODERATE	3871/8430	C1291S	FBN3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000270509		CCDS12196.1			1	
CDAN1	0	LGGM	GRCh37	15	43017755	43017755	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	7	.	.	ENST00000356231.3:c.3382C>T	p.Pro1128Ser	p.P1128S	ENST00000356231	NM_138477.2	1128	Ccg/Tcg	0	1	1	UPI0000229BCB	0	NA	ENST00000356231		ENSG00000140326	1713		43	1.01		HGNC	p.P1128S	COSM70101	CDAN1		SNV			1			1	ENST00000356231	protein_coding	getma.org/?cm=var&var=hg19,15,43017755,G,A&fts=all				P/S		A	low	3406/4637		getma.org/?cm=msa&ty=f&p=CDAN1_HUMAN&rb=259&re=1225&var=P1128S	tolerated(0.41)	H3BM60_HUMAN			YES	CDAN1,missense_variant,p.Pro1128Ser,ENST00000356231,NM_138477.2;STARD9,downstream_gene_variant,,ENST00000290607,NM_020759.2;CDAN1,3_prime_UTR_variant,,ENST00000562465,;CDAN1,non_coding_transcript_exon_variant,,ENST00000563604,;STARD9,downstream_gene_variant,,ENST00000562619,;CDAN1,upstream_gene_variant,,ENST00000565930,;					1		MODERATE	3382/3684	P1128S	CDAN1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000348564		CCDS32209.1			1	
KAT8	0	LGGM	GRCh37	16	31131804	31131804	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	7	.	.	ENST00000448516.2:c.431G>A	p.Arg144His	p.R144H	ENST00000448516	NM_182958.2	144	cGc/cAc	0	1		UPI000004FA7B	0	getma.org/pdb.php?prot=KAT8_HUMAN&from=1&to=200&var=R144H	ENST00000219797		ENSG00000103510	17933		24	2.835		HGNC	p.R144H	COSM4060389,COSM4060390	KAT8		SNV						1,1	ENST00000219797	protein_coding	getma.org/?cm=var&var=hg19,16,31131804,G,A&fts=all		Superfamily_domains:SSF54160,hmmpanther:PTHR10615		R/H		A	medium	449/1525		getma.org/?cm=msa&ty=f&p=KAT8_HUMAN&rb=1&re=200&var=R144H	deleterious(0.01)					KAT8,missense_variant,p.Arg144His,ENST00000543774,;KAT8,missense_variant,p.Arg144His,ENST00000448516,NM_182958.2;KAT8,missense_variant,p.Arg144His,ENST00000219797,NM_032188.2;RP11-196G11.4,downstream_gene_variant,,ENST00000576336,;KAT8,non_coding_transcript_exon_variant,,ENST00000539683,;					1,1		MODERATE	431/1377	R144H	KAT8_HUMAN			Transcript		benign(0.169)	.	ENSP00000219797		CCDS10706.1			1	
TONSL	0	LGGM	GRCh37	8	145663854	145663854	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	7	.	.	ENST00000409379.3:c.1653G>A	p.Gln551=	p.Q551=	ENST00000409379	NM_013432.4	551	caG/caA	0	1	1	UPI0000424A3B	0		ENST00000409379		ENSG00000160949	7801		18			HGNC	p.Q551Q		TONSL		SNV							ENST00000409379	protein_coding			PROSITE_profiles:PS50297,PROSITE_profiles:PS50088,hmmpanther:PTHR24139:SF31,hmmpanther:PTHR24139,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		Q		T		1683/4502							YES	TONSL,splice_region_variant,p.=,ENST00000409379,NM_013432.4;AC084125.4,intron_variant,,ENST00000442850,;AC084125.4,downstream_gene_variant,,ENST00000544423,;TONSL,splice_region_variant,,ENST00000497613,;							LOW	1653/4137		TONSL_HUMAN			Transcript			.	ENSP00000386239		CCDS34968.2			1	
DSE	0	LGGM	GRCh37	6	116757378	116757378	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	7	.	.	ENST00000331677.3:c.1747G>A	p.Ala583Thr	p.A583T	ENST00000331677		583	Gca/Aca	0	1	1	UPI0000073CB8	0	NA	ENST00000331677		ENSG00000111817	21144		33	0.345		HGNC	p.A583T		DSE		SNV			1				ENST00000331677	protein_coding	getma.org/?cm=var&var=hg19,6,116757378,G,A&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF3		A/T		A	neutral	2191/7237		getma.org/?cm=msa&ty=f&p=DSE_HUMAN&rb=401&re=600&var=A583T	tolerated(0.29)	B3KY37_HUMAN			YES	DSE,missense_variant,p.Ala583Thr,ENST00000331677,;DSE,missense_variant,p.Ala583Thr,ENST00000452085,NM_001080976.1;DSE,missense_variant,p.Ala583Thr,ENST00000359564,NM_013352.2;DSE,missense_variant,p.Ala602Thr,ENST00000537543,;DSE,non_coding_transcript_exon_variant,,ENST00000606712,;							MODERATE	1747/2877	A583T	DSE_HUMAN			Transcript		benign(0.007)	.	ENSP00000332151		CCDS5107.1			1	
JADE1	0	LGGM	GRCh37	4	129776791	129776791	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	7	.	.	ENST00000226319.6:c.703T>C	p.Tyr235His	p.Y235H	ENST00000226319	NM_199320.2	235	Tat/Cat	0	1	1	UPI000020B45B	0	getma.org/pdb.php?prot=JADE1_HUMAN&from=217&to=251&var=Y235H	ENST00000226319		ENSG00000077684	30027		34	2.535		HGNC	p.Y235H		JADE1		SNV							ENST00000512960	protein_coding	getma.org/?cm=var&var=hg19,4,129776791,T,C&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF13831,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,hmmpanther:PTHR13793,hmmpanther:PTHR13793:SF79,SMART_domains:SM00249,Superfamily_domains:SSF57903		Y/H		C	medium	983/5771		getma.org/?cm=msa&ty=f&p=JADE1_HUMAN&rb=217&re=251&var=Y235H	deleterious(0)	D6RGE7_HUMAN,D6RFK0_HUMAN,D6RCS1_HUMAN,D6RC05_HUMAN,D6RBB3_HUMAN			YES	JADE1,missense_variant,p.Tyr235His,ENST00000226319,NM_199320.2,NM_001287443.1,NM_001287440.1,NM_001287439.1,NM_001287442.1;JADE1,missense_variant,p.Tyr223His,ENST00000452328,NM_001287437.1;JADE1,missense_variant,p.Tyr235His,ENST00000413543,NM_001287441.1;JADE1,missense_variant,p.Tyr235His,ENST00000511647,NM_024900.3;JADE1,missense_variant,p.Tyr235His,ENST00000512960,;JADE1,downstream_gene_variant,,ENST00000511925,;							MODERATE	703/2529	Y235H	JADE1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000226319		CCDS34062.1			1	
CSF1	0	LGGM	GRCh37	1	110466703	110466703	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	7	.	.	ENST00000329608.6:c.1460G>A	p.Gly487Glu	p.G487E	ENST00000329608	NM_000757.5	487	gGa/gAa	0	1	1	UPI00001AFA6F	0	NA	ENST00000329608		ENSG00000184371	2432		33	1.21		HGNC	p.G371E		CSF1		SNV							ENST00000369801	protein_coding	getma.org/?cm=var&var=hg19,1,110466703,G,A&fts=all		PIRSF_domain:PIRSF001948,Pfam_domain:PF05337,hmmpanther:PTHR10058		G/E		A	low	1851/4210		getma.org/?cm=msa&ty=f&p=CSF1_HUMAN&rb=272&re=554&var=G487E	tolerated(0.2)	H7BY18_HUMAN,E9PKP4_HUMAN			YES	CSF1,missense_variant,p.Gly487Glu,ENST00000329608,NM_000757.5,NM_172211.3;CSF1,missense_variant,p.Gly371Glu,ENST00000344188,;CSF1,missense_variant,p.Gly487Glu,ENST00000369802,NM_172212.2;CSF1,missense_variant,p.Gly371Glu,ENST00000369801,NM_172210.2;CSF1,missense_variant,p.Gly189Glu,ENST00000420111,;CSF1,downstream_gene_variant,,ENST00000488198,;CSF1,downstream_gene_variant,,ENST00000527192,;CSF1,downstream_gene_variant,,ENST00000525659,;CSF1,downstream_gene_variant,,ENST00000526001,;							MODERATE	1460/1665	G487E	CSF1_HUMAN			Transcript		benign(0.05)	.	ENSP00000327513		CCDS816.1			1	
PCDHGB7	0	LGGM	GRCh37	5	140799201	140799201	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	7	.	.	ENST00000398594.2:c.1775T>C	p.Val592Ala	p.V592A	ENST00000398594	NM_018927.3	592	gTg/gCg	0	1	1	UPI000007141F	0	getma.org/pdb.php?prot=PCDGJ_HUMAN&from=577&to=663&var=V592A	ENST00000398594		ENSG00000254122	8714		23	1.675		HGNC	p.V592A		PCDHGB7		SNV							ENST00000398594	protein_coding	getma.org/?cm=var&var=hg19,5,140799201,T,C&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF113,SMART_domains:SM00112,Superfamily_domains:SSF49313		V/A		C	low	1775/4596		getma.org/?cm=msa&ty=f&p=PCDGJ_HUMAN&rb=577&re=663&var=V592A	deleterious(0.01)	Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGB7,missense_variant,p.Val592Ala,ENST00000398594,NM_018927.3;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;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;PCDHGA8,intron_variant,,ENST00000398604,NM_032088.1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,NM_032011.1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,NM_032086.1;PCDHGA9,intron_variant,,ENST00000573521,NM_018921.2,NM_032089.1;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;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2;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;PCDHGA11,upstream_gene_variant,,ENST00000398587,NM_032092.1,NM_018914.2;PCDHGA11,upstream_gene_variant,,ENST00000518882,;							MODERATE	1775/2790	V592A	PCDGJ_HUMAN			Transcript		possibly_damaging(0.872)	.	ENSP00000381594		CCDS47293.1			1	
CLASP2	0	LGGM	GRCh37	3	33576736	33576736	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	126	7	.	.	ENST00000468888.2:c.3800A>G	p.Gln1267Arg	p.Q1267R	ENST00000468888		1267	cAg/cGg	0	1	1	UPI0001B7944B	0	NA	ENST00000468888		ENSG00000163539	17078		133	2.085		HGNC	p.Q1266R		CLASP2		SNV							ENST00000399362	protein_coding	getma.org/?cm=var&var=hg19,3,33576736,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR21567:SF30,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		Q/R		C	medium	3847/6978		getma.org/?cm=msa&ty=f&p=CLAP2_HUMAN&rb=941&re=1055&var=Q1047R	tolerated(0.24)	Q6N029_HUMAN,Q07A20_HUMAN,E7EW49_HUMAN,B2RTR1_HUMAN			YES	CLASP2,missense_variant,p.Gln1266Arg,ENST00000399362,NM_015097.2;CLASP2,missense_variant,p.Gln748Arg,ENST00000307312,;CLASP2,missense_variant,p.Gln1258Arg,ENST00000359576,;CLASP2,missense_variant,p.Gln1267Arg,ENST00000468888,;CLASP2,missense_variant,p.Gln1036Arg,ENST00000539981,;CLASP2,missense_variant,p.Gln1046Arg,ENST00000480013,NM_001207044.1;CLASP2,missense_variant,p.Gln1026Arg,ENST00000461133,;CLASP2,missense_variant,p.Gln42Arg,ENST00000487553,;CLASP2,downstream_gene_variant,,ENST00000480385,;CLASP2,missense_variant,p.Gln69Arg,ENST00000476251,;CLASP2,downstream_gene_variant,,ENST00000494261,;							MODERATE	3800/4545	Q1047R				Transcript		benign(0.091)	.	ENSP00000419974					1	
MAGEB10	0	LGGM	GRCh37	X	27839695	27839695	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	7	.	.	ENST00000356790.2:c.272A>T	p.Glu91Val	p.E91V	ENST00000356790	NM_182506.3	91	gAa/gTa	0	1	1	UPI000013F050	0	NA	ENST00000356790		ENSG00000177689	25377		14	2.61		HGNC	p.E91V		MAGEB10		SNV							ENST00000356790	protein_coding	getma.org/?cm=var&var=hg19,X,27839695,A,T&fts=all		Pfam_domain:PF12440,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF36		E/V		T	medium	517/1953		getma.org/?cm=msa&ty=f&p=MAGBA_HUMAN&rb=3&re=97&var=E91V	deleterious(0.02)				YES	MAGEB10,missense_variant,p.Glu91Val,ENST00000356790,NM_182506.3;							MODERATE	272/1044	E91V	MAGBA_HUMAN			Transcript		probably_damaging(0.939)	.	ENSP00000368304		CCDS35221.1			1	
SLC15A5	0	LGGM	GRCh37	12	16377361	16377361	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	7	.	.	ENST00000344941.3:c.1338G>A	p.Leu446=	p.L446=	ENST00000344941	NM_001170798.1	446	ctG/ctA	0	1	1	UPI0000DD8132	0		ENST00000344941		ENSG00000188991	33455		34			HGNC	p.L446L		SLC15A5		SNV							ENST00000344941	protein_coding			Pfam_domain:PF00854,hmmpanther:PTHR11654,hmmpanther:PTHR11654:SF91,Superfamily_domains:SSF103473,Transmembrane_helices:TMhelix		L		T		1338/2923							YES	SLC15A5,synonymous_variant,p.=,ENST00000344941,NM_001170798.1;							LOW	1338/1740		S15A5_HUMAN			Transcript			.	ENSP00000340402					1	
DDX60	0	LGGM	GRCh37	4	169138149	169138149	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	7	.	.	ENST00000393743.3:c.5074G>A	p.Asp1692Asn	p.D1692N	ENST00000393743	NM_017631.5	1692	Gac/Aac	0	1	1	UPI000020B6AB	0	NA	ENST00000393743		ENSG00000137628	25942	8.70E-05	55	2.825		HGNC	p.D1692N	rs768875546	DDX60		SNV							ENST00000393743	protein_coding	getma.org/?cm=var&var=hg19,4,169138149,C,T&fts=all				D/N		T	medium	5366/6071		getma.org/?cm=msa&ty=f&p=DDX60_HUMAN&rb=1375&re=1709&var=D1692N	deleterious(0)	Q9NXV7_HUMAN,Q9H616_HUMAN,Q6B0F7_HUMAN,D6R944_HUMAN			YES	DDX60,missense_variant,p.Asp1692Asn,ENST00000393743,NM_017631.5;DDX60,downstream_gene_variant,,ENST00000511317,;							MODERATE	5074/5139	D1692N	DDX60_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000377344	8.24E-06	CCDS34097.1			1	
C7orf55-LUC7L2	0	LGGM	GRCh37	7	139094400	139094400	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	7	.	.	ENST00000354926.4:c.779G>A	p.Arg260Lys	p.R260K	ENST00000354926	NM_001270643.1	260	aGg/aAg	0	1	1	UPI000003F000	0	NA	ENST00000354926		ENSG00000146963	44671		44	2.005		HGNC	p.R260K		C7orf55-LUC7L2		SNV							ENST00000354926	protein_coding	getma.org/?cm=var&var=hg19,7,139094400,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12375:SF28,hmmpanther:PTHR12375		R/K		A	medium	1133/2645		getma.org/?cm=msa&ty=f&p=LC7L2_HUMAN&rb=4&re=264&var=R260K	tolerated(0.13)	B3KSP8_HUMAN			YES	C7orf55-LUC7L2,missense_variant,p.Arg260Lys,ENST00000354926,NM_001270643.1,NM_016019.4;C7orf55-LUC7L2,missense_variant,p.Arg259Lys,ENST00000263545,;LUC7L2,missense_variant,p.Arg326Lys,ENST00000541515,NM_001244584.2;C7orf55-LUC7L2,missense_variant,p.Arg257Lys,ENST00000541170,NM_001244585.1;C7orf55-LUC7L2,splice_region_variant,,ENST00000498518,;C7orf55-LUC7L2,splice_region_variant,,ENST00000456182,;C7orf55-LUC7L2,splice_region_variant,,ENST00000463912,;							MODERATE	779/1179	R260K	LC7L2_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000347005		CCDS43656.1			1	
OTOG	0	LGGM	GRCh37	11	17608059	17608059	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	7	.	.	ENST00000399391.2:c.2834A>T	p.Glu945Val	p.E945V	ENST00000399391	NM_001277269.1	945	gAg/gTg	0	1	1	UPI0001662628	0	NA	ENST00000399391		ENSG00000188162	8516		37	2.825		HGNC	p.E872V		OTOG		SNV			1				ENST00000399397	protein_coding	getma.org/?cm=var&var=hg19,11,17608059,A,T&fts=all		hmmpanther:PTHR11339:SF228,hmmpanther:PTHR11339,Gene3D:2.10.25.10,Superfamily_domains:SSF57567		E/V		T	medium	2834/8778		getma.org/?cm=msa&ty=f&p=OTOG_HUMAN&rb=845&re=985&var=E945V		H9KVB3_HUMAN			YES	OTOG,missense_variant,p.Glu872Val,ENST00000399397,;OTOG,missense_variant,p.Glu945Val,ENST00000399391,NM_001277269.1;OTOG,synonymous_variant,p.=,ENST00000342528,;							MODERATE	2834/8778	E945V	OTOG_HUMAN			Transcript		benign(0.037)	.	ENSP00000382323		CCDS59225.1			1	
RUNX1T1	0	LGGM	GRCh37	8	92972739	92972739	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	7	.	.	ENST00000436581.2:c.1579T>C	p.Trp527Arg	p.W527R	ENST00000436581		527	Tgg/Cgg	0	1		UPI000012F7B4	0	getma.org/pdb.php?prot=MTG8_HUMAN&from=515&to=551&var=W516R	ENST00000265814		ENSG00000079102	1535		48	0.495		HGNC	p.W516R		RUNX1T1		SNV			1				ENST00000523629	protein_coding	getma.org/?cm=var&var=hg19,8,92972739,A,G&fts=all		Superfamily_domains:SSF144232,Pfam_domain:PF01753,PROSITE_patterns:PS01360,hmmpanther:PTHR10379,hmmpanther:PTHR10379:SF5,PROSITE_profiles:PS50865		W/R		G	neutral	1630/3217		getma.org/?cm=msa&ty=f&p=MTG8_HUMAN&rb=515&re=551&var=W516R	deleterious(0)	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				RUNX1T1,missense_variant,p.Trp516Arg,ENST00000523629,NM_175634.2,NM_001198633.1,NM_001198630.1,NM_001198626.1;RUNX1T1,missense_variant,p.Trp489Arg,ENST00000396218,NM_004349.3;RUNX1T1,missense_variant,p.Trp516Arg,ENST00000265814,NM_001198628.1,NM_001198631.1,NM_001198629.1;RUNX1T1,missense_variant,p.Trp489Arg,ENST00000518844,NM_001198627.1,NM_001198625.1;RUNX1T1,missense_variant,p.Trp479Arg,ENST00000422361,NM_175636.2;RUNX1T1,missense_variant,p.Trp479Arg,ENST00000360348,NM_175635.2,NM_001198632.1;RUNX1T1,missense_variant,p.Trp479Arg,ENST00000520724,NM_001198679.1,NM_001198634.1;RUNX1T1,missense_variant,p.Trp527Arg,ENST00000436581,;RUNX1T1,3_prime_UTR_variant,,ENST00000521751,;RUNX1T1,non_coding_transcript_exon_variant,,ENST00000521078,;							MODERATE	1546/1815	W516R	MTG8_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000265814		CCDS6256.1			1	
IFI16	0	LGGM	GRCh37	1	158990224	158990224	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	7	.	.	ENST00000368131.4:c.1066T>A	p.Cys356Ser	p.C356S	ENST00000368131	NM_005531.2	356	Tgt/Agt	0	1		UPI00001412BE	0	getma.org/pdb.php?prot=IF16_HUMAN&from=201&to=370&var=C356S	ENST00000295809		ENSG00000163565	5395		55	2.54		HGNC	p.C356S		IFI16		SNV							ENST00000368131	protein_coding	getma.org/?cm=var&var=hg19,1,158990224,T,A&fts=all		Gene3D:2.40.50.140,Pfam_domain:PF02760,PROSITE_profiles:PS50834,hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF5,Superfamily_domains:SSF159141		C/S		A	medium	1321/2867		getma.org/?cm=msa&ty=f&p=IF16_HUMAN&rb=201&re=370&var=C356S	deleterious(0)	H3BVE6_HUMAN,H3BR88_HUMAN,H3BR65_HUMAN,H3BM18_HUMAN				IFI16,missense_variant,p.Cys356Ser,ENST00000295809,;IFI16,missense_variant,p.Cys356Ser,ENST00000368131,NM_005531.2;IFI16,missense_variant,p.Cys356Ser,ENST00000368132,;IFI16,missense_variant,p.Cys304Ser,ENST00000430894,;IFI16,missense_variant,p.Cys300Ser,ENST00000359709,NM_001206567.1;IFI16,missense_variant,p.Cys356Ser,ENST00000340979,;IFI16,missense_variant,p.Cys356Ser,ENST00000448393,;IFI16,missense_variant,p.Cys198Ser,ENST00000474473,;IFI16,downstream_gene_variant,,ENST00000447473,;IFI16,downstream_gene_variant,,ENST00000426592,;IFI16,downstream_gene_variant,,ENST00000567661,;IFI16,non_coding_transcript_exon_variant,,ENST00000493884,;IFI16,non_coding_transcript_exon_variant,,ENST00000483916,;							MODERATE	1066/2358	C356S	IF16_HUMAN			Transcript		possibly_damaging(0.88)	.	ENSP00000295809					1	
EZH1	0	LGGM	GRCh37	17	40872328	40872328	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	7	.	.	ENST00000428826.2:c.627G>T	p.Leu209=	p.L209=	ENST00000428826		209	ctG/ctT	0	1	1	UPI000012A3BA	0		ENST00000428826		ENSG00000108799	3526		30			HGNC	p.L209L		EZH1		SNV							ENST00000428826	protein_coding			hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF314,SMART_domains:SM00717		L		A		749/4623				K7EPC0_HUMAN,K7EK66_HUMAN			YES	EZH1,synonymous_variant,p.=,ENST00000428826,;EZH1,synonymous_variant,p.=,ENST00000415827,NM_001991.3;EZH1,synonymous_variant,p.=,ENST00000435174,;EZH1,synonymous_variant,p.=,ENST00000592743,;EZH1,synonymous_variant,p.=,ENST00000585893,;EZH1,synonymous_variant,p.=,ENST00000590078,;EZH1,synonymous_variant,p.=,ENST00000586382,;EZH1,synonymous_variant,p.=,ENST00000586089,;EZH1,downstream_gene_variant,,ENST00000593214,;EZH1,downstream_gene_variant,,ENST00000592492,;EZH1,downstream_gene_variant,,ENST00000590082,;EZH1,synonymous_variant,p.=,ENST00000586935,;EZH1,3_prime_UTR_variant,,ENST00000588897,;EZH1,3_prime_UTR_variant,,ENST00000586867,;EZH1,non_coding_transcript_exon_variant,,ENST00000586103,;EZH1,non_coding_transcript_exon_variant,,ENST00000591330,;EZH1,non_coding_transcript_exon_variant,,ENST00000585912,;EZH1,non_coding_transcript_exon_variant,,ENST00000585550,;EZH1,non_coding_transcript_exon_variant,,ENST00000587179,;EZH1,upstream_gene_variant,,ENST00000588239,;EZH1,upstream_gene_variant,,ENST00000593148,;							LOW	627/2244		EZH1_HUMAN			Transcript			.	ENSP00000404658		CCDS32659.1			1	
BLTP1	0	LGGM	GRCh37	4	123225996	123225996	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	7	.	.	ENST00000264501.4:c.9530G>A	p.Arg3177Lys	p.R3177K	ENST00000264501		3177	aGa/aAa	0	1	1	UPI0000DD87B4	0	NA	ENST00000264501		ENSG00000138688	26953		54	1.56		HGNC	p.R3177K		KIAA1109		SNV							ENST00000455637	protein_coding	getma.org/?cm=var&var=hg19,4,123225996,G,A&fts=all		hmmpanther:PTHR31640,hmmpanther:PTHR31640:SF1		R/K		A	low	9903/15896		getma.org/?cm=msa&ty=f&p=K1109_HUMAN&rb=3089&re=3288&var=R3177K		B3KN93_HUMAN			YES	KIAA1109,missense_variant,p.Arg3177Lys,ENST00000264501,;KIAA1109,missense_variant,p.Arg3177Lys,ENST00000388738,NM_015312.3;KIAA1109,missense_variant,p.Arg3177Lys,ENST00000455637,;KIAA1109,missense_variant,p.Arg1135Lys,ENST00000419325,;KIAA1109,upstream_gene_variant,,ENST00000438707,;KIAA1109,upstream_gene_variant,,ENST00000421930,;							MODERATE	9530/15018	R3177K	K1109_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000264501		CCDS43267.1			1	
TUFM	0	LGGM	GRCh37	16	28856157	28856157	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	7	.	.	ENST00000313511.3:c.546T>C	p.Tyr182=	p.Y182=	ENST00000313511	NM_003321.4	182	taT/taC	0	1	1	UPI0000049FD5	0		ENST00000313511		ENSG00000178952	12420		40			HGNC	p.Y182Y		TUFM		SNV			1				ENST00000313511	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00009,Prints_domain:PR00315,hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF112,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00485		Y		G		685/2071							YES	TUFM,synonymous_variant,p.=,ENST00000313511,NM_003321.4;SH2B1,upstream_gene_variant,,ENST00000322610,;SH2B1,upstream_gene_variant,,ENST00000563591,;SH2B1,upstream_gene_variant,,ENST00000567536,;MIR4721,upstream_gene_variant,,ENST00000577590,;TUFM,3_prime_UTR_variant,,ENST00000565012,;TUFM,non_coding_transcript_exon_variant,,ENST00000561644,;TUFM,upstream_gene_variant,,ENST00000569217,;							LOW	546/1368		EFTU_HUMAN			Transcript			.	ENSP00000322439		CCDS10642.1			1	
ZSWIM5	0	LGGM	GRCh37	1	45553851	45553851	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	7	.	.	ENST00000359600.5:c.654T>G	p.Thr218=	p.T218=	ENST00000359600	NM_020883.1	218	acT/acG	0	1	1	UPI00001C1D76	0		ENST00000359600		ENSG00000162415	29299		65			HGNC	p.T218T		ZSWIM5		SNV							ENST00000359600	protein_coding			hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2		T		C		860/5819							YES	ZSWIM5,synonymous_variant,p.=,ENST00000359600,NM_020883.1;ZSWIM5,non_coding_transcript_exon_variant,,ENST00000464588,;							LOW	654/3558		ZSWM5_HUMAN			Transcript			.	ENSP00000352614		CCDS41319.1			1	
FBLN1	0	LGGM	GRCh37	22	45923772	45923772	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	7	.	.	ENST00000327858.6:c.367G>A	p.Gly123Ser	p.G123S	ENST00000327858	NM_006486.2	123	Ggc/Agc	0	1	1	UPI00001AE84C	0	NA	ENST00000327858		ENSG00000077942	3600		28	1.5		HGNC	p.G81S	COSM3555355,COSM3555356,COSM3555358,COSM3555357	FBLN1		SNV			1			1,1,1,1	ENST00000454279	protein_coding	getma.org/?cm=var&var=hg19,22,45923772,G,A&fts=all		PROSITE_profiles:PS01178,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01177,Pfam_domain:PF01821,SMART_domains:SM00104,PIRSF_domain:PIRSF036313		G/S		A	low	462/2896		getma.org/?cm=msa&ty=f&p=FBLN1_HUMAN&rb=112&re=144&var=G123S	tolerated(0.14)	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN			YES	FBLN1,missense_variant,p.Gly123Ser,ENST00000348697,;FBLN1,missense_variant,p.Gly123Ser,ENST00000327858,NM_006486.2;FBLN1,missense_variant,p.Gly123Ser,ENST00000442170,NM_006485.3;FBLN1,missense_variant,p.Gly161Ser,ENST00000402984,;FBLN1,missense_variant,p.Gly123Ser,ENST00000340923,NM_006487.2;FBLN1,missense_variant,p.Gly123Ser,ENST00000262722,NM_001996.3;FBLN1,missense_variant,p.Gly123Ser,ENST00000455233,;FBLN1,missense_variant,p.Gly131Ser,ENST00000411478,;FBLN1,missense_variant,p.Gly81Ser,ENST00000454279,;FBLN1,missense_variant,p.Gly63Ser,ENST00000451475,;FBLN1,downstream_gene_variant,,ENST00000439835,;FBLN1,downstream_gene_variant,,ENST00000445110,;FBLN1,missense_variant,p.Gly18Ser,ENST00000437711,;					1,1,1,1		MODERATE	367/2112	G123S	FBLN1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000331544		CCDS14067.1			1	
ASB18	0	LGGM	GRCh37	2	237103655	237103655	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	7	.	.	ENST00000409749.3:c.1261C>G	p.Pro421Ala	p.P421A	ENST00000409749	NM_212556.2	421	Cca/Gca	0	1	1	UPI00015D60A6	0	NA	ENST00000409749		ENSG00000182177	19770		43	3.34		HGNC	p.P392A		ASB18		SNV							ENST00000330842	protein_coding	getma.org/?cm=var&var=hg19,2,237103655,G,C&fts=all		Pfam_domain:PF07525,PROSITE_profiles:PS50225,hmmpanther:PTHR24188,hmmpanther:PTHR24188:SF7,SMART_domains:SM00969,Superfamily_domains:SSF158235		P/A		C	medium	1261/1401		getma.org/?cm=msa&ty=f&p=ASB18_HUMAN&rb=421&re=460&var=P421A	tolerated(0.13)				YES	ASB18,missense_variant,p.Pro392Ala,ENST00000330842,;ASB18,missense_variant,p.Pro421Ala,ENST00000409749,NM_212556.2;ASB18,downstream_gene_variant,,ENST00000447030,;AC079135.1,intron_variant,,ENST00000483218,;AC079135.1,intron_variant,,ENST00000415226,;							MODERATE	1261/1401	P421A	ASB18_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000386532		CCDS46548.1			1	
MARVELD3	0	LGGM	GRCh37	16	71674838	71674838	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000299952.4:c.1141A>G	p.Ser381Gly	p.S381G	ENST00000299952	NM_001017967.3	381	Agc/Ggc	0	1		UPI000013D7B9	0		ENST00000268485		ENSG00000140832	30525		21		4470	HGNC	p.S381G		MARVELD3		SNV							ENST00000299952	protein_coding							G		-/2912								MARVELD3,missense_variant,p.Ser381Gly,ENST00000299952,NM_001017967.3,NM_001271329.1;PHLPP2,3_prime_UTR_variant,,ENST00000540628,;MARVELD3,3_prime_UTR_variant,,ENST00000565261,;PHLPP2,downstream_gene_variant,,ENST00000393524,;PHLPP2,downstream_gene_variant,,ENST00000568954,;PHLPP2,downstream_gene_variant,,ENST00000356272,NM_015020.2;MARVELD3,downstream_gene_variant,,ENST00000268485,NM_052858.5;PHLPP2,downstream_gene_variant,,ENST00000360429,;MARVELD3,intron_variant,,ENST00000561682,;PHLPP2,missense_variant,p.Tyr713His,ENST00000568004,;PHLPP2,3_prime_UTR_variant,,ENST00000564884,;							MODIFIER	-/1206		MALD3_HUMAN			Transcript			.	ENSP00000268485		CCDS10904.1			1	
MDN1	0	LGGM	GRCh37	6	90460159	90460159	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	136	7	.	.	ENST00000369393.3:c.3320G>A	p.Arg1107His	p.R1107H	ENST00000369393		1107	cGt/cAt	0	1	1	UPI000013C4B8	0	getma.org/pdb.php?prot=MDN1_HUMAN&from=1079&to=1215&var=R1107H	ENST00000369393		ENSG00000112159	18302		143	5.055		HGNC	p.R1034H		MDN1		SNV							ENST00000439638	protein_coding	getma.org/?cm=var&var=hg19,6,90460159,C,T&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF07728,PIRSF_domain:PIRSF010340,hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF58,SMART_domains:SM00382,Superfamily_domains:SSF52540		R/H		T	high	3436/18413		getma.org/?cm=msa&ty=f&p=MDN1_HUMAN&rb=1079&re=1215&var=R1107H		M0QXR3_HUMAN			YES	MDN1,missense_variant,p.Arg1107His,ENST00000369393,;MDN1,missense_variant,p.Arg1107His,ENST00000428876,NM_014611.1;MDN1,missense_variant,p.Arg1034His,ENST00000439638,;							MODERATE	3320/16791	R1107H	MDN1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358400		CCDS5024.1			1	
TAAR5	0	LGGM	GRCh37	6	132910563	132910563	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	7	.	.	ENST00000258034.2:c.263T>A	p.Leu88Gln	p.L88Q	ENST00000258034	NM_003967.2	88	cTg/cAg	0	1	1	UPI000013CFAA	0	getma.org/pdb.php?prot=TAAR5_HUMAN&from=51&to=305&var=L88Q	ENST00000258034		ENSG00000135569	30236		38	2.595		HGNC	p.L88Q		TAAR5		SNV							ENST00000258034	protein_coding	getma.org/?cm=var&var=hg19,6,132910563,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24249,hmmpanther:PTHR24249:SF217,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/Q		T	medium	315/1147		getma.org/?cm=msa&ty=f&p=TAAR5_HUMAN&rb=51&re=305&var=L88Q	deleterious(0)				YES	TAAR5,missense_variant,p.Leu88Gln,ENST00000258034,NM_003967.2;TAAR4P,downstream_gene_variant,,ENST00000454843,;							MODERATE	263/1014	L88Q	TAAR5_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000258034		CCDS5156.1			1	
ADAR	0	LGGM	GRCh37	1	154574629	154574629	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	77	7	.	.	ENST00000368474.4:c.489G>A	p.Gly163=	p.G163=	ENST00000368474	NM_001111.4	163	ggG/ggA	0	1	1	UPI000045626B	0		ENST00000368474		ENSG00000160710	225		84			HGNC	p.G206G		ADAR		SNV			1				ENST00000292205	protein_coding			Gene3D:1.10.10.10,Pfam_domain:PF02295,PROSITE_profiles:PS50139,hmmpanther:PTHR10910,hmmpanther:PTHR10910:SF93,SMART_domains:SM00550,Superfamily_domains:SSF46785		G		T		689/6620							YES	ADAR,synonymous_variant,p.=,ENST00000368474,NM_001111.4,NM_015841.3,NM_015840.3;ADAR,synonymous_variant,p.=,ENST00000292205,NM_001025107.2,NM_001193495.1;ADAR,synonymous_variant,p.=,ENST00000529168,;ADAR,5_prime_UTR_variant,,ENST00000368471,;ADAR,non_coding_transcript_exon_variant,,ENST00000471068,;ADAR,non_coding_transcript_exon_variant,,ENST00000494866,;ADAR,downstream_gene_variant,,ENST00000526905,;ADAR,non_coding_transcript_exon_variant,,ENST00000463920,;							LOW	489/3681		DSRAD_HUMAN			Transcript			.	ENSP00000357459		CCDS1071.1			1	
GPR124	0	LGGM	GRCh37	8	37697040	37697040	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	7	.	.	ENST00000412232.2:c.2411G>A	p.Gly804Asp	p.G804D	ENST00000412232	NM_032777.9	804	gGc/gAc	0	1	1	UPI00004AE50D	0	NA	ENST00000412232		ENSG00000020181	17849		23	2.255		HGNC	p.G804D		GPR124		SNV							ENST00000412232	protein_coding	getma.org/?cm=var&var=hg19,8,37697040,G,A&fts=all		PROSITE_profiles:PS50261,hmmpanther:PTHR12011:SF33,hmmpanther:PTHR12011,Pfam_domain:PF00002		G/D		A	medium	2424/5651		getma.org/?cm=msa&ty=f&p=GP124_HUMAN&rb=771&re=974&var=G804D	deleterious(0)				YES	GPR124,missense_variant,p.Gly587Asp,ENST00000315215,;GPR124,missense_variant,p.Gly804Asp,ENST00000412232,NM_032777.9;BRF2,downstream_gene_variant,,ENST00000220659,NM_018310.3;							MODERATE	2411/4017	G804D	GP124_HUMAN			Transcript		possibly_damaging(0.71)	.	ENSP00000406367		CCDS6097.2			1	
NETO2	0	LGGM	GRCh37	16	47117695	47117695	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	7	.	.	ENST00000562435.1:c.1015G>A	p.Val339Ile	p.V339I	ENST00000562435	NM_018092.4	339	Gta/Ata	0	1	1	UPI000003C718	0	NA	ENST00000562435		ENSG00000171208	14644		60	-0.805		HGNC	p.V339I		NETO2		SNV							ENST00000562435	protein_coding	getma.org/?cm=var&var=hg19,16,47117695,C,T&fts=all		hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF314		V/I		T	neutral	1400/7481		getma.org/?cm=msa&ty=f&p=NETO2_HUMAN&rb=332&re=525&var=V339I	tolerated(0.36)				YES	NETO2,missense_variant,p.Val339Ile,ENST00000562435,NM_018092.4;NETO2,missense_variant,p.Val332Ile,ENST00000303155,NM_001201477.1;NETO2,missense_variant,p.Val179Ile,ENST00000562559,;NETO2,missense_variant,p.Val42Ile,ENST00000564667,;NETO2,missense_variant,p.Val138Ile,ENST00000563078,;							MODERATE	1015/1578	V339I	NETO2_HUMAN			Transcript		benign(0.001)	.	ENSP00000455169		CCDS10727.1			1	
UPF1	0	LGGM	GRCh37	19	18956789	18956789	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	7	.	.	ENST00000262803.5:c.232G>A	p.Val78Ile	p.V78I	ENST00000262803	NM_002911.3	78	Gtt/Att	0	1		UPI00001344ED	0	NA	ENST00000599848		ENSG00000005007	9962		22	0.55		HGNC	p.V78I		UPF1		SNV							ENST00000599848	protein_coding	getma.org/?cm=var&var=hg19,19,18956789,G,A&fts=all				V/I		A	neutral	441/5311		getma.org/?cm=msa&ty=f&p=RENT1_HUMAN&rb=1&re=120&var=V78I	tolerated(0.3)	B3KY55_HUMAN				UPF1,missense_variant,p.Val78Ile,ENST00000262803,NM_002911.3;UPF1,missense_variant,p.Val78Ile,ENST00000599848,;UPF1,splice_region_variant,,ENST00000601981,;UPF1,upstream_gene_variant,,ENST00000600310,;UPF1,upstream_gene_variant,,ENST00000598471,;UPF1,upstream_gene_variant,,ENST00000600868,;UPF1,upstream_gene_variant,,ENST00000594504,;UPF1,upstream_gene_variant,,ENST00000598209,;UPF1,upstream_gene_variant,,ENST00000600012,;							MODERATE	232/3390	V78I	RENT1_HUMAN			Transcript		benign(0.001)	.	ENSP00000470142					1	
COL6A6	0	LGGM	GRCh37	3	130282294	130282294	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	98	7	.	.	ENST00000358511.6:c.447G>T	p.Glu149Asp	p.E149D	ENST00000358511	NM_001102608.1	149	gaG/gaT	0	1	1	UPI00015B6548	0	getma.org/pdb.php?prot=CO6A6_HUMAN&from=27&to=202&var=E149D	ENST00000358511		ENSG00000206384	27023		105	1.59		HGNC	p.E149D		COL6A6		SNV							ENST00000453409	protein_coding	getma.org/?cm=var&var=hg19,3,130282294,G,T&fts=all		PROSITE_profiles:PS50234,hmmpanther:PTHR22992:SF86,hmmpanther:PTHR22992,Pfam_domain:PF00092,Gene3D:3.40.50.410,SMART_domains:SM00327,Superfamily_domains:SSF53300		E/D		T	low	478/9581		getma.org/?cm=msa&ty=f&p=CO6A6_HUMAN&rb=27&re=202&var=E149D	deleterious(0.04)				YES	COL6A6,missense_variant,p.Glu149Asp,ENST00000358511,NM_001102608.1;COL6A6,missense_variant,p.Glu149Asp,ENST00000453409,;							MODERATE	447/6792	E149D	CO6A6_HUMAN			Transcript		possibly_damaging(0.532)	.	ENSP00000351310		CCDS46911.1			1	
MYT1	0	LGGM	GRCh37	20	62863558	62863558	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	7	.	.	ENST00000328439.1:c.2717G>A	p.Gly906Glu	p.G906E	ENST00000328439	NM_004535.2	906	gGg/gAg	0	1	1	UPI000012FBFA	0	getma.org/pdb.php?prot=MYT1_HUMAN&from=890&to=920&var=G906E	ENST00000328439		ENSG00000196132	7622		23	3.165		HGNC	p.G906E		MYT1		SNV							ENST00000328439	protein_coding	getma.org/?cm=var&var=hg19,20,62863558,G,A&fts=all		Superfamily_domains:0042508,Pfam_domain:PF01530,hmmpanther:PTHR10816,hmmpanther:PTHR10816:SF10		G/E		A	medium	3081/5533		getma.org/?cm=msa&ty=f&p=MYT1_HUMAN&rb=890&re=920&var=G906E					YES	MYT1,missense_variant,p.Gly933Glu,ENST00000536311,;MYT1,missense_variant,p.Gly906Glu,ENST00000328439,NM_004535.2;MYT1,downstream_gene_variant,,ENST00000360149,;							MODERATE	2717/3366	G906E	MYT1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000327465		CCDS13558.1			1	
KIAA0907	0	LGGM	GRCh37	1	155891316	155891316	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	7	.	.	ENST00000368321.3:c.1116G>A	p.Gln372=	p.Q372=	ENST00000368321	NM_014949.2	372	caG/caA	0	1	1	UPI00001A36E0	0		ENST00000368321		ENSG00000132680	29145		28			HGNC	p.A339T	rs751289168	KIAA0907		SNV							ENST00000368319	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR15744,hmmpanther:PTHR15744:SF0		Q		T		1140/2947							YES	KIAA0907,missense_variant,p.Ala339Thr,ENST00000368319,;KIAA0907,synonymous_variant,p.=,ENST00000368320,;KIAA0907,synonymous_variant,p.=,ENST00000368321,NM_014949.2;SNORA42,upstream_gene_variant,,ENST00000384744,NR_002974.1;SCARNA4,downstream_gene_variant,,ENST00000516999,;KIAA0907,splice_region_variant,,ENST00000482337,;KIAA0907,splice_region_variant,,ENST00000483237,;KIAA0907,non_coding_transcript_exon_variant,,ENST00000478002,;KIAA0907,downstream_gene_variant,,ENST00000466713,;KIAA0907,upstream_gene_variant,,ENST00000465953,;KIAA0907,upstream_gene_variant,,ENST00000466520,;	0.000116						LOW	1116/1845		K0907_HUMAN			Transcript			.	ENSP00000357304	8.24E-06	CCDS30885.1			1	
KDM8	0	LGGM	GRCh37	16	27230394	27230394	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	7	.	.	ENST00000441782.2:c.1070C>T	p.Pro357Leu	p.P357L	ENST00000441782	NM_001145348.1	357	cCa/cTa	0	1		UPI0000071B08	0	getma.org/pdb.php?prot=KDM8_HUMAN&from=192&to=416&var=P319L	ENST00000286096		ENSG00000155666	25840		31	3.185		HGNC	p.P319L		KDM8		SNV							ENST00000286096	protein_coding	getma.org/?cm=var&var=hg19,16,27230394,C,T&fts=all		Gene3D:1vrbA01,Pfam_domain:PF13621,PROSITE_profiles:PS51184,hmmpanther:PTHR12461,hmmpanther:PTHR12461:SF11,SMART_domains:SM00558,Superfamily_domains:SSF51197		P/L		T	medium	1129/2458		getma.org/?cm=msa&ty=f&p=KDM8_HUMAN&rb=192&re=416&var=P319L	deleterious(0)	H3BR76_HUMAN,H3BM39_HUMAN,B4DPM6_HUMAN				KDM8,missense_variant,p.Pro319Leu,ENST00000286096,NM_024773.2;KDM8,missense_variant,p.Pro357Leu,ENST00000441782,NM_001145348.1;KDM8,intron_variant,,ENST00000380948,;KDM8,intron_variant,,ENST00000568965,;KDM8,intron_variant,,ENST00000567735,;CTD-3203P2.1,upstream_gene_variant,,ENST00000567108,;KDM8,non_coding_transcript_exon_variant,,ENST00000567366,;KDM8,intron_variant,,ENST00000567785,;KDM8,downstream_gene_variant,,ENST00000563571,;KDM8,downstream_gene_variant,,ENST00000568792,;KDM8,upstream_gene_variant,,ENST00000569592,;							MODERATE	956/1251	P319L	KDM8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286096		CCDS10627.1			1	
NTN3	0	LGGM	GRCh37	16	2522446	2522446	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	7	.	.	ENST00000293973.1:c.744C>T	p.Asp248=	p.D248=	ENST00000293973	NM_006181.2	248	gaC/gaT	0	1	1	UPI000006ED30	0		ENST00000293973		ENSG00000162068	8030		26			HGNC	p.D248D		NTN3		SNV							ENST00000293973	protein_coding			PROSITE_profiles:PS51117,hmmpanther:PTHR10574,Pfam_domain:PF00055,SMART_domains:SM00136		D		T		947/1986							YES	NTN3,synonymous_variant,p.=,ENST00000293973,NM_006181.2;TBC1D24,upstream_gene_variant,,ENST00000567020,NM_020705.2;TBC1D24,upstream_gene_variant,,ENST00000293970,NM_001199107.1;RP11-715J22.2,upstream_gene_variant,,ENST00000563775,;RP11-715J22.6,upstream_gene_variant,,ENST00000561847,;							LOW	744/1743		NET3_HUMAN			Transcript			.	ENSP00000293973		CCDS10469.1			1	
HSPH1	0	LGGM	GRCh37	13	31715385	31715385	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	7	.	.	ENST00000320027.5:c.1728A>G	p.Lys576=	p.K576=	ENST00000320027	NM_006644.2	576	aaA/aaG	0	1	1	UPI0000001C62	0		ENST00000320027		ENSG00000120694	16969		51			HGNC	p.K576K		HSPH1		SNV							ENST00000320027	protein_coding			Gene3D:2.60.34.10,Pfam_domain:PF00012,hmmpanther:PTHR19375,hmmpanther:PTHR19375:SF18		K		C		2073/3612							YES	HSPH1,synonymous_variant,p.=,ENST00000320027,NM_006644.2;HSPH1,synonymous_variant,p.=,ENST00000380406,;HSPH1,synonymous_variant,p.=,ENST00000380405,NM_001286503.1;HSPH1,synonymous_variant,p.=,ENST00000445273,NM_001286504.1;HSPH1,synonymous_variant,p.=,ENST00000429785,;HSPH1,upstream_gene_variant,,ENST00000435381,;HSPH1,3_prime_UTR_variant,,ENST00000602786,;HSPH1,upstream_gene_variant,,ENST00000469538,;							LOW	1728/2577		HS105_HUMAN			Transcript			.	ENSP00000318687		CCDS9340.1			1	
RPTOR	0	LGGM	GRCh37	17	78617588	78617588	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	7	.	.	ENST00000306801.3:c.326A>T	p.Gln109Leu	p.Q109L	ENST00000306801	NM_020761.2	109	cAg/cTg	0	1	1	UPI000007000F	0	NA	ENST00000306801		ENSG00000141564	30287		21	3.475		HGNC	p.Q109L		RPTOR		SNV							ENST00000306801	protein_coding	getma.org/?cm=var&var=hg19,17,78617588,A,T&fts=all		Pfam_domain:PF14538,Prints_domain:PR01547,hmmpanther:PTHR12848		Q/L		T	medium	688/6408		getma.org/?cm=msa&ty=f&p=RPTOR_HUMAN&rb=1&re=200&var=Q109L	deleterious(0)	Q6DKI0_HUMAN			YES	RPTOR,missense_variant,p.Gln109Leu,ENST00000306801,NM_020761.2;RPTOR,missense_variant,p.Gln109Leu,ENST00000544334,NM_001163034.1;RPTOR,missense_variant,p.Gln109Leu,ENST00000570891,;RPTOR,intron_variant,,ENST00000537330,;RPTOR,non_coding_transcript_exon_variant,,ENST00000577161,;RPTOR,intron_variant,,ENST00000574767,;							MODERATE	326/4008	Q109L	RPTOR_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000307272		CCDS11773.1			1	
CTD-3074O7.11	0	LGGM	GRCh37	11	66282115	66282115	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	7	.	.	ENST00000318312.7:c.398C>A	p.Pro133His	p.P133H	ENST00000318312	NM_024649.4	133	cCt/cAt	0	1		UPI000006E494	0	NA	ENST00000419755		ENSG00000256349			80	1.9		Clone_based_vega_gene	p.P170H		CTD-3074O7.11		SNV							ENST00000419755	protein_coding	getma.org/?cm=var&var=hg19,11,66282115,C,A&fts=all		Pfam_domain:PF14779,hmmpanther:PTHR20870,hmmpanther:PTHR20870:SF0		P/H		A	low	587/3547		getma.org/?cm=msa&ty=f&p=BBS1_HUMAN&rb=1&re=591&var=P133H	tolerated(0.06)	E9PQD9_HUMAN,E9PPR3_HUMAN			YES	CTD-3074O7.11,missense_variant,p.Pro170His,ENST00000419755,;BBS1,missense_variant,p.Pro133His,ENST00000318312,NM_024649.4;BBS1,missense_variant,p.Pro133His,ENST00000393994,;BBS1,missense_variant,p.Pro133His,ENST00000455748,;BBS1,missense_variant,p.Leu37Ile,ENST00000537537,;BBS1,missense_variant,p.Pro40His,ENST00000524705,;BBS1,intron_variant,,ENST00000525809,;DPP3,downstream_gene_variant,,ENST00000532677,NM_130443.3,NM_005700.4,NM_001256670.1;DPP3,downstream_gene_variant,,ENST00000360510,;DPP3,downstream_gene_variant,,ENST00000453114,;DPP3,downstream_gene_variant,,ENST00000541961,;BBS1,downstream_gene_variant,,ENST00000526815,;BBS1,non_coding_transcript_exon_variant,,ENST00000529766,;BBS1,non_coding_transcript_exon_variant,,ENST00000529953,;BBS1,missense_variant,p.Pro133His,ENST00000533644,;BBS1,3_prime_UTR_variant,,ENST00000526760,;BBS1,3_prime_UTR_variant,,ENST00000533557,;BBS1,3_prime_UTR_variant,,ENST00000527251,;BBS1,3_prime_UTR_variant,,ENST00000532908,;BBS1,3_prime_UTR_variant,,ENST00000524458,;BBS1,3_prime_UTR_variant,,ENST00000526035,;BBS1,non_coding_transcript_exon_variant,,ENST00000529955,;BBS1,non_coding_transcript_exon_variant,,ENST00000533430,;BBS1,non_coding_transcript_exon_variant,,ENST00000524907,;BBS1,non_coding_transcript_exon_variant,,ENST00000534730,;BBS1,upstream_gene_variant,,ENST00000528543,;							MODERATE	509/1893	P133H				Transcript		possibly_damaging(0.73)	.	ENSP00000398526					1	
ERF	0	LGGM	GRCh37	19	42753041	42753041	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	7	.	.	ENST00000222329.4:c.1223G>A	p.Gly408Glu	p.G408E	ENST00000222329	NM_006494.2	408	gGg/gAg	0	1	1	UPI000000106F	0	NA	ENST00000222329		ENSG00000105722	3444		26	0		HGNC	p.G333E	rs373251870	ERF		SNV	T:0		1				ENST00000440177	protein_coding	getma.org/?cm=var&var=hg19,19,42753041,C,T&fts=all		Low_complexity_(Seg):seg		G/E	T:0.0001	T	neutral	1381/2698	3.23E-05	getma.org/?cm=msa&ty=f&p=ERF_HUMAN&rb=310&re=509&var=G408E	tolerated_low_confidence(0.49)	M0QXN0_HUMAN,B7Z6N1_HUMAN,B7Z4R0_HUMAN			YES	ERF,missense_variant,p.Gly408Glu,ENST00000222329,NM_006494.2;ERF,missense_variant,p.Gly333Glu,ENST00000440177,;AC006486.9,intron_variant,,ENST00000594664,;AC006486.1,downstream_gene_variant,,ENST00000378108,;ERF,downstream_gene_variant,,ENST00000593944,;ERF,downstream_gene_variant,,ENST00000598965,;ERF,downstream_gene_variant,,ENST00000595941,;ERF,downstream_gene_variant,,ENST00000596818,;ERF,downstream_gene_variant,,ENST00000595448,;							MODERATE	1223/1647	G408E	ERF_HUMAN			Transcript		benign(0.131)	.	ENSP00000222329	1.66E-05	CCDS12600.1			1	
ACAA1	0	LGGM	GRCh37	3	38175494	38175494	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	7	.	.	ENST00000333167.8:c.272T>C	p.Val91Ala	p.V91A	ENST00000333167	NM_001607.3	91	gTg/gCg	0	1	1	UPI0000136E35	0	getma.org/pdb.php?prot=THIK_HUMAN&from=35&to=291&var=V91A	ENST00000333167		ENSG00000060971	82		43	1.79		HGNC	p.V91A		ACAA1		SNV							ENST00000333167	protein_coding	getma.org/?cm=var&var=hg19,3,38175494,A,G&fts=all		Gene3D:3.40.47.10,Pfam_domain:PF00108,PIRSF_domain:PIRSF000429,hmmpanther:PTHR18919,hmmpanther:PTHR18919:SF64,Superfamily_domains:SSF53901,TIGRFAM_domain:TIGR01930		V/A		G	low	445/1785		getma.org/?cm=msa&ty=f&p=THIK_HUMAN&rb=35&re=291&var=V91A	deleterious(0)	Q8NCW8_HUMAN			YES	ACAA1,missense_variant,p.Val91Ala,ENST00000333167,NM_001607.3;ACAA1,missense_variant,p.Val91Ala,ENST00000450296,;ACAA1,missense_variant,p.Val91Ala,ENST00000301810,NM_001130410.1;ACAA1,missense_variant,p.Val91Ala,ENST00000444607,;ACAA1,missense_variant,p.Val14Ala,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.Val91Ala,ENST00000411549,;ACAA1,missense_variant,p.Cys106Arg,ENST00000440176,;ACAA1,missense_variant,p.Cys106Arg,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,;							MODERATE	272/1275	V91A	THIK_HUMAN			Transcript		possibly_damaging(0.754)	.	ENSP00000333664		CCDS2673.1			1	
OLR1	0	LGGM	GRCh37	12	10324599	10324599	+	splice_donor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	10	8	.	.	ENST00000309539.3:c.76+2T>A		p.X26_splice	ENST00000309539	NM_002543.3			0	1	1	UPI000004A917	0		ENST00000309539		ENSG00000173391	8133		18			HGNC	-		OLR1		SNV							ENST00000309539	protein_coding							T		-/2460				J3QTI8_HUMAN,F5H7N8_HUMAN,F5H3G7_HUMAN,F5H0N6_HUMAN,F5H001_HUMAN			YES	OLR1,splice_donor_variant,,ENST00000309539,NM_002543.3;OLR1,splice_donor_variant,,ENST00000545927,NM_001172633.1;OLR1,splice_donor_variant,,ENST00000432556,NM_001172632.1;OLR1,splice_donor_variant,,ENST00000544577,;TMEM52B,intron_variant,,ENST00000381923,NM_001079815.1;OLR1,upstream_gene_variant,,ENST00000543993,;OLR1,upstream_gene_variant,,ENST00000539518,;OLR1,upstream_gene_variant,,ENST00000339968,;OLR1,upstream_gene_variant,,ENST00000538745,;OLR1,upstream_gene_variant,,ENST00000538873,;OLR1,upstream_gene_variant,,ENST00000543414,;TMEM52B,intron_variant,,ENST00000545924,;TMEM52B,intron_variant,,ENST00000334148,;							HIGH	76/822		OLR1_HUMAN			Transcript			.	ENSP00000309124		CCDS8618.1			1	
ATP4A	0	LGGM	GRCh37	19	36054172	36054172	+	splice_acceptor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	8	.	.	ENST00000262623.3:c.157-2A>C		p.X53_splice	ENST00000262623	NM_000704.2			0	1	1	UPI000016A49B	0		ENST00000262623		ENSG00000105675	819		83			HGNC	-		ATP4A		SNV							ENST00000262623	protein_coding							G		-/3709							YES	ATP4A,splice_acceptor_variant,,ENST00000262623,NM_000704.2;ATP4A,non_coding_transcript_exon_variant,,ENST00000590916,;							HIGH	157/3108		ATP4A_HUMAN			Transcript			.	ENSP00000262623		CCDS12467.1			1	
CELSR1	0	LGGM	GRCh37	22	46860215	46860215	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	8	.	.	ENST00000262738.3:c.3572G>A	p.Cys1191Tyr	p.C1191Y	ENST00000262738	NM_014246.1	1191	tGc/tAc	0	1	1	UPI0000040648	0	NA	ENST00000262738		ENSG00000075275	1850		26	2.735		HGNC	p.C1191Y		CELSR1		SNV			1				ENST00000262738	protein_coding	getma.org/?cm=var&var=hg19,22,46860215,C,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,hmmpanther:PTHR24026,PROSITE_profiles:PS50268		C/Y		T	medium	3572/11389		getma.org/?cm=msa&ty=f&p=CELR1_HUMAN&rb=1106&re=1224&var=C1191Y	deleterious(0)	Q8NDT0_HUMAN			YES	CELSR1,missense_variant,p.Cys1191Tyr,ENST00000262738,NM_014246.1;CELSR1,missense_variant,p.Cys1191Tyr,ENST00000395964,;CELSR1,missense_variant,p.Cys566Tyr,ENST00000454637,;							MODERATE	3572/9045	C1191Y	CELR1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000262738		CCDS14076.1			1	
RYR2	0	LGGM	GRCh37	1	237936835	237936835	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	72	8	.	.	ENST00000366574.2:c.11662T>C	p.Phe3888Leu	p.F3888L	ENST00000366574	NM_001035.2	3888	Ttt/Ctt	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		80	1.38		HGNC	p.F3888L		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237936835,T,C&fts=all		Pfam_domain:PF08454,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		F/L		C	low	11979/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=3826&re=3959&var=F3888L		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Phe3888Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Phe3872Leu,ENST00000542537,;RYR2,missense_variant,p.Phe3894Leu,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;							MODERATE	11662/14904	F3888L	RYR2_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000355533		CCDS55691.1			1	
OR7G1	0	LGGM	GRCh37	19	9225810	9225810	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	8	.	.	ENST00000541538.1:c.630T>A	p.Pro210=	p.P210=	ENST00000541538	NM_001005192.2	210	ccT/ccA	0	1	1	UPI0000041C27	0		ENST00000541538		ENSG00000161807	8465		68			HGNC	p.P210P		OR7G1		SNV							ENST00000293614	protein_coding			Prints_domain:PR00237,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Pfam_domain:PF13853,hmmpanther:PTHR26451:SF326,hmmpanther:PTHR26451,PROSITE_profiles:PS50262,Transmembrane_helices:TMhelix		P		T		630/936							YES	OR7G1,synonymous_variant,p.=,ENST00000293614,;OR7G1,synonymous_variant,p.=,ENST00000541538,NM_001005192.2;							LOW	630/936		OR7G1_HUMAN			Transcript			.	ENSP00000444134		CCDS32898.2			1	
ZNF625	0	LGGM	GRCh37	19	12256796	12256796	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	95	8	.	.	ENST00000439556.2:c.435T>C	p.Ser145=	p.S145=	ENST00000439556		145	agT/agC	0	1	1	UPI0000EE608F	0		ENST00000439556		ENSG00000257591	30571		103			HGNC	p.S79S		ZNF625		SNV							ENST00000542938	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF73,SMART_domains:SM00355,Superfamily_domains:SSF57667		S		G		606/1322							YES	ZNF625,synonymous_variant,p.=,ENST00000355738,;ZNF625,synonymous_variant,p.=,ENST00000542938,;ZNF625,synonymous_variant,p.=,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,;							LOW	435/1119		ZN625_HUMAN			Transcript			.	ENSP00000394380		CCDS12269.2			1	
PSMA8	0	LGGM	GRCh37	18	23772302	23772302	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	8	.	.	ENST00000308268.6:c.698T>A	p.Val233Asp	p.V233D	ENST00000308268	NM_144662.2	233	gTt/gAt	0	1	1	UPI000013ECFF	0	getma.org/pdb.php?prot=PSA7L_HUMAN&from=220&to=256&var=V233D	ENST00000308268		ENSG00000154611	22985		30	0.345		HGNC	p.V227D		PSMA8		SNV							ENST00000415576	protein_coding	getma.org/?cm=var&var=hg19,18,23772302,T,A&fts=all		Coiled-coils_(Ncoils):Coil,PROSITE_profiles:PS51475,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF47,Gene3D:3.60.20.10,Superfamily_domains:SSF56235		V/D		A	neutral	787/1804		getma.org/?cm=msa&ty=f&p=PSA7L_HUMAN&rb=220&re=256&var=V233D	deleterious(0.01)				YES	PSMA8,missense_variant,p.Val233Asp,ENST00000308268,NM_144662.2,NM_001025096.1;PSMA8,missense_variant,p.Val189Asp,ENST00000343848,NM_001025097.1;PSMA8,missense_variant,p.Val227Asp,ENST00000415576,;PSMA8,3_prime_UTR_variant,,ENST00000538664,;							MODERATE	698/771	V233D	PSA7L_HUMAN			Transcript		benign(0.179)	.	ENSP00000311121		CCDS32808.1			1	
CD40	0	LGGM	GRCh37	20	44751781	44751781	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	8	.	.	ENST00000372285.3:c.420T>C	p.Asp140=	p.D140=	ENST00000372285	NM_001250.4	140	gaT/gaC	0	1	1	UPI00000336A0	0		ENST00000372285		ENSG00000101017	11919		62			HGNC	p.D140D		CD40		SNV			1				ENST00000372285	protein_coding			PROSITE_profiles:PS50050,hmmpanther:PTHR23097:SF103,hmmpanther:PTHR23097,Gene3D:2.10.50.10,SMART_domains:SM00208,Superfamily_domains:SSF57586		D		C		492/1729				Q09LL4_HUMAN			YES	CD40,synonymous_variant,p.=,ENST00000372285,NM_001250.4;CD40,synonymous_variant,p.=,ENST00000372276,NM_152854.2;CD40,non_coding_transcript_exon_variant,,ENST00000489304,;CD40,intron_variant,,ENST00000477696,;CD40,intron_variant,,ENST00000461171,;CD40,intron_variant,,ENST00000466205,;							LOW	420/834		TNR5_HUMAN			Transcript			.	ENSP00000361359		CCDS13393.1			1	
TIMM50	0	LGGM	GRCh37	19	39976366	39976366	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	8	.	.	ENST00000314349.4:c.720C>T	p.Asp240=	p.D240=	ENST00000314349	NM_001001563.1	240	gaC/gaT	0	1		UPI0000202335	0		ENST00000607714		ENSG00000105197	23656		43			HGNC	p.P221S		TIMM50		SNV							ENST00000601358	protein_coding			Gene3D:3.40.50.1000,hmmpanther:PTHR12210,hmmpanther:PTHR12210:SF3,Superfamily_domains:SSF56784		D		T		433/1338								TIMM50,synonymous_variant,p.=,ENST00000314349,NM_001001563.1;TIMM50,synonymous_variant,p.=,ENST00000607714,;TIMM50,synonymous_variant,p.=,ENST00000544017,;TIMM50,synonymous_variant,p.=,ENST00000602028,;TIMM50,synonymous_variant,p.=,ENST00000601403,;TIMM50,synonymous_variant,p.=,ENST00000594583,;TIMM50,synonymous_variant,p.=,ENST00000597666,;TIMM50,intron_variant,,ENST00000599794,;TIMM50,missense_variant,p.Pro118Ser,ENST00000601358,;TIMM50,missense_variant,p.Pro94Ser,ENST00000602265,;TIMM50,3_prime_UTR_variant,,ENST00000599733,;TIMM50,non_coding_transcript_exon_variant,,ENST00000595961,;TIMM50,non_coding_transcript_exon_variant,,ENST00000596239,;TIMM50,upstream_gene_variant,,ENST00000601252,;TIMM50,downstream_gene_variant,,ENST00000595286,;TIMM50,downstream_gene_variant,,ENST00000598125,;TIMM50,downstream_gene_variant,,ENST00000597782,;TIMM50,upstream_gene_variant,,ENST00000597552,;							LOW	411/1062		TIM50_HUMAN			Transcript			.	ENSP00000475531					1	
DNAH5	0	LGGM	GRCh37	5	13753357	13753357	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	8	.	.	ENST00000265104.4:c.10857C>T	p.Ser3619=	p.S3619=	ENST00000265104	NM_001369.2	3619	agC/agT	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		48			HGNC	p.S3619S		DNAH5		SNV			1				ENST00000265104	protein_coding			Pfam_domain:PF12781,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		S		A		10962/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;							LOW	10857/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
PRKACG	0	LGGM	GRCh37	9	71628651	71628651	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	8	.	.	ENST00000377276.2:c.358G>A	p.Val120Met	p.V120M	ENST00000377276	NM_002732.3	120	Gtg/Atg	0	1	1	UPI000013E448	0	getma.org/pdb.php?prot=KAPCG_HUMAN&from=44&to=298&var=V120M	ENST00000377276		ENSG00000165059	9382		31	3.045		HGNC	p.V120M		PRKACG		SNV							ENST00000377276	protein_coding	getma.org/?cm=var&var=hg19,9,71628651,C,T&fts=all		Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:1.10.510.10,Pfam_domain:PF00069,hmmpanther:PTHR24353,hmmpanther:PTHR24353:SF53,PROSITE_profiles:PS50011		V/M		T	medium	389/1571		getma.org/?cm=msa&ty=f&p=KAPCG_HUMAN&rb=44&re=298&var=V120M	deleterious(0)				YES	PRKACG,missense_variant,p.Val120Met,ENST00000377276,NM_002732.3;PIP5K1B,downstream_gene_variant,,ENST00000265382,NM_003558.3;PIP5K1B,downstream_gene_variant,,ENST00000541509,NM_001278253.1;PIP5K1B,downstream_gene_variant,,ENST00000478500,;							MODERATE	358/1056	V120M	KAPCG_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000366488		CCDS6625.1			1	
MTHFD1	0	LGGM	GRCh37	14	64855080	64855080	+	5_prime_UTR_variant	5'UTR	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	8	.	.	ENST00000216605.8:c.-66G>A		*22*	ENST00000216605	NM_005956.3			0	1	1	UPI000013C6FA	0		ENST00000216605		ENSG00000100714	7432		21			HGNC	p.G35S		MTHFD1		SNV			1				ENST00000545908	protein_coding							A		13/3135							YES	MTHFD1,missense_variant,p.Gly35Ser,ENST00000545908,;MTHFD1,missense_variant,p.Gly35Ser,ENST00000555709,;MTHFD1,5_prime_UTR_variant,,ENST00000216605,NM_005956.3;MTHFD1,5_prime_UTR_variant,,ENST00000554739,;MTHFD1,5_prime_UTR_variant,,ENST00000554768,;MTHFD1,upstream_gene_variant,,ENST00000557539,;MTHFD1,non_coding_transcript_exon_variant,,ENST00000555252,;							MODIFIER	-/2808		C1TC_HUMAN			Transcript			.	ENSP00000216605		CCDS9763.1			1	
SIN3B	0	LGGM	GRCh37	19	16962228	16962228	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	8	.	.	ENST00000379803.1:c.732A>T	p.Thr244=	p.T244=	ENST00000379803	NM_015260.2	244	acA/acT	0	1	1	UPI0000425EFA	0		ENST00000379803		ENSG00000127511	19354		27			HGNC	p.T244T		SIN3B		SNV							ENST00000248054	protein_coding			hmmpanther:PTHR12346,hmmpanther:PTHR12346:SF1		T		T		746/5129							YES	SIN3B,synonymous_variant,p.=,ENST00000379803,NM_015260.2;SIN3B,synonymous_variant,p.=,ENST00000248054,;SIN3B,synonymous_variant,p.=,ENST00000596802,;SIN3B,synonymous_variant,p.=,ENST00000596638,;CTD-2538G9.5,downstream_gene_variant,,ENST00000600987,;							LOW	732/3489		SIN3B_HUMAN			Transcript			.	ENSP00000369131		CCDS32946.1			1	
PAPPA2	0	LGGM	GRCh37	1	176679252	176679252	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	8	.	.	ENST00000367662.3:c.3591C>T	p.Ser1197=	p.S1197=	ENST00000367662	NM_020318.2	1197	tcC/tcT	0	1	1	UPI000004A835	0		ENST00000367662		ENSG00000116183	14615		43			HGNC	p.S1197S	rs372618301	PAPPA2		SNV	T:0.0003			0.000102			ENST00000367662	protein_coding			hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF349		S	T:0	T		4755/9685							YES	PAPPA2,synonymous_variant,p.=,ENST00000367662,NM_020318.2;							LOW	3591/5376		PAPP2_HUMAN			Transcript			.	ENSP00000356634	8.28E-06	CCDS41438.1			1	
POTEF	0	LGGM	GRCh37	2	130877636	130877636	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	8	.	.	ENST00000357462.5:c.453A>T	p.Lys151Asn	p.K151N	ENST00000357462		151	aaA/aaT	0	1	1	UPI0000418FEA	0	getma.org/pdb.php?prot=POTEF_HUMAN&from=143&to=236&var=K151N	ENST00000357462		ENSG00000196604	33905		40	-0.12		HGNC	p.K151N		POTEF		SNV							ENST00000360967	protein_coding	getma.org/?cm=var&var=hg19,2,130877636,T,A&fts=all		Gene3D:1.25.40.20,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF46,Superfamily_domains:SSF48403		K/N		A	neutral	547/4031		getma.org/?cm=msa&ty=f&p=POTEF_HUMAN&rb=143&re=236&var=K151N	deleterious_low_confidence(0)				YES	POTEF,missense_variant,p.Lys151Asn,ENST00000357462,;POTEF,missense_variant,p.Lys151Asn,ENST00000409914,NM_001099771.2;POTEF,missense_variant,p.Lys151Asn,ENST00000361163,;POTEF,missense_variant,p.Lys151Asn,ENST00000360967,;							MODERATE	453/3228	K151N	POTEF_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000350052		CCDS46409.1			1	
SLC45A1	0	LGGM	GRCh37	1	8395501	8395501	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	8	.	.	ENST00000471889.1:c.1448C>T	p.Ala483Val	p.A483V	ENST00000471889		483	gCc/gTc	0	1		UPI000040EA42	0	NA	ENST00000289877		ENSG00000162426	17939		26	1.995		HGNC	p.A517V		SLC45A1		SNV							ENST00000377479	protein_coding	getma.org/?cm=var&var=hg19,1,8395501,C,T&fts=all		hmmpanther:PTHR19432:SF6,hmmpanther:PTHR19432		A/V		T	medium	1448/2401		getma.org/?cm=msa&ty=f&p=S45A1_HUMAN&rb=373&re=572&var=A483V	deleterious(0.02)					SLC45A1,missense_variant,p.Ala483Val,ENST00000471889,;SLC45A1,missense_variant,p.Ala517Val,ENST00000377479,;SLC45A1,missense_variant,p.Ala483Val,ENST00000289877,NM_001080397.1;SLC45A1,non_coding_transcript_exon_variant,,ENST00000481265,;SLC45A1,non_coding_transcript_exon_variant,,ENST00000497660,;							MODERATE	1448/2247	A483V	S45A1_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000289877		CCDS30577.1			1	
CACNA2D3	0	LGGM	GRCh37	3	54925383	54925383	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	8	.	.	ENST00000474759.1:c.2152A>T	p.Asn718Tyr	p.N718Y	ENST00000474759	NM_018398.2	718	Aat/Tat	0	1		UPI000004A7BF	0	NA	ENST00000288197		ENSG00000157445	15460		32	1.61		HGNC	p.N718Y		CACNA2D3		SNV							ENST00000415676	protein_coding	getma.org/?cm=var&var=hg19,3,54925383,A,T&fts=all		hmmpanther:PTHR10166:SF25,hmmpanther:PTHR10166		N/Y		T	low	2200/3671		getma.org/?cm=msa&ty=f&p=CA2D3_HUMAN&rb=550&re=749&var=N718Y	deleterious(0.01)	C9JAV5_HUMAN				CACNA2D3,missense_variant,p.Asn718Tyr,ENST00000474759,NM_018398.2;CACNA2D3,missense_variant,p.Asn718Tyr,ENST00000288197,;CACNA2D3,missense_variant,p.Asn718Tyr,ENST00000415676,;CACNA2D3,missense_variant,p.Asn624Tyr,ENST00000490478,;CACNA2D3-AS1,intron_variant,,ENST00000471265,;CACNA2D3,splice_region_variant,,ENST00000471363,;CACNA2D3,downstream_gene_variant,,ENST00000477024,;							MODERATE	2152/3276	N718Y	CA2D3_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000288197					1	
CPB2	0	LGGM	GRCh37	13	46658456	46658456	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	8	.	.	ENST00000181383.4:c.173C>T	p.Thr58Ile	p.T58I	ENST00000181383	NM_001872.4	58	aCa/aTa	0	1	1	UPI000013C764	0	getma.org/pdb.php?prot=CBPB2_HUMAN&from=29&to=106&var=T58I	ENST00000181383		ENSG00000080618	2300		46	1.7		HGNC	p.T58I		CPB2		SNV							ENST00000181383	protein_coding	getma.org/?cm=var&var=hg19,13,46658456,G,A&fts=all		hmmpanther:PTHR11705:SF17,hmmpanther:PTHR11705,Gene3D:3.30.70.340,Pfam_domain:PF02244,Superfamily_domains:SSF54897		T/I		A	low	190/1717		getma.org/?cm=msa&ty=f&p=CBPB2_HUMAN&rb=29&re=106&var=T58I	deleterious(0)				YES	CPB2,missense_variant,p.Thr58Ile,ENST00000181383,NM_001872.4;CPB2,missense_variant,p.Thr58Ile,ENST00000439329,NM_001278541.1;CPB2-AS1,intron_variant,,ENST00000606991,;CPB2-AS1,intron_variant,,ENST00000606243,;CPB2-AS1,intron_variant,,ENST00000415033,;CPB2-AS1,intron_variant,,ENST00000606351,;							MODERATE	173/1272	T58I	CBPB2_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000181383		CCDS9401.1			1	
SCN4A	0	LGGM	GRCh37	17	62036772	62036772	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	8	.	.	ENST00000435607.1:c.1872G>A	p.Glu624=	p.E624=	ENST00000435607	NM_000334.4	624	gaG/gaA	0	1	1	UPI0000201254	0		ENST00000435607		ENSG00000007314	10591		30			HGNC	p.E624E	rs763657271	SCN4A		SNV			1				ENST00000435607	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF193,Pfam_domain:PF00520,Gene3D:1.20.120.350,Superfamily_domains:SSF81324		E		T		1949/7805	0.000156			Q9H3L9_HUMAN			YES	SCN4A,synonymous_variant,p.=,ENST00000578147,;SCN4A,synonymous_variant,p.=,ENST00000435607,NM_000334.4;SCN4A,non_coding_transcript_exon_variant,,ENST00000581514,;							LOW	1872/5511		SCN4A_HUMAN	0.000159		Transcript			.	ENSP00000396320	9.09E-05	CCDS45761.1			1	
PIK3CG	0	LGGM	GRCh37	7	106509038	106509038	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	8	.	.	ENST00000359195.3:c.1032G>A	p.Lys344=	p.K344=	ENST00000359195	NM_002649.2	344	aaG/aaA	0	1	1	UPI00000746B8	0		ENST00000359195		ENSG00000105851	8978		44			HGNC	p.K344K		PIK3CG		SNV							ENST00000440650	protein_coding			hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF34		K		A		1342/5377				Q24M88_HUMAN,E9PDN7_HUMAN			YES	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,;							LOW	1032/3309		PK3CG_HUMAN			Transcript			.	ENSP00000352121		CCDS5739.1			1	
MAD2L1BP	0	LGGM	GRCh37	6	43604128	43604128	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	8	.	.	ENST00000451025.2:c.153G>A	p.Trp51Ter	p.W51*	ENST00000451025	NM_001003690.1	51	tgG/tgA	0	1		UPI0000000C4A	0	NA	ENST00000372171		ENSG00000124688	21059		55	0		HGNC	p.W51X		MAD2L1BP		SNV							ENST00000451025	protein_coding	getma.org/?cm=var&var=hg19,6,43604128,G,A&fts=all		Pfam_domain:PF06581,hmmpanther:PTHR15681,hmmpanther:PTHR15681:SF1		W/*		A	NA	114/1301		NA						MAD2L1BP,stop_gained,p.Trp51Ter,ENST00000451025,NM_001003690.1;MAD2L1BP,stop_gained,p.Trp19Ter,ENST00000372171,NM_014628.2;MAD2L1BP,non_coding_transcript_exon_variant,,ENST00000508232,;							HIGH	57/825	W19*	MD2BP_HUMAN			Transcript			.	ENSP00000361244		CCDS4904.1			1	
CNTNAP3	0	LGGM	GRCh37	9	39140522	39140522	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	114	8	.	.	ENST00000297668.6:c.1870A>G	p.Met624Val	p.M624V	ENST00000297668	NM_033655.3	624	Atg/Gtg	0	1	1	UPI000013E43B	0	NA	ENST00000297668		ENSG00000106714	13834		122	2.42		HGNC	p.M624V	rs777332502	CNTNAP3		SNV							ENST00000377659	protein_coding	getma.org/?cm=var&var=hg19,9,39140522,T,C&fts=all		PROSITE_profiles:PS51406,hmmpanther:PTHR10127:SF612,hmmpanther:PTHR10127,Gene3D:3.90.215.10,Superfamily_domains:SSF56496		M/V		C	medium	1944/5064	1.51E-05	getma.org/?cm=msa&ty=f&p=CNTP3_HUMAN&rb=584&re=792&var=M624V	tolerated(0.06)				YES	CNTNAP3,missense_variant,p.Met624Val,ENST00000297668,NM_033655.3;CNTNAP3,missense_variant,p.Met536Val,ENST00000358144,;CNTNAP3,missense_variant,p.Met624Val,ENST00000377656,;CNTNAP3,missense_variant,p.Met624Val,ENST00000377659,;CNTNAP3,missense_variant,p.Met531Val,ENST00000323947,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000448573,;CNTNAP3,non_coding_transcript_exon_variant,,ENST00000469061,;CNTNAP3,missense_variant,p.Met531Val,ENST00000443583,;							MODERATE	1870/3867	M624V	CNTP3_HUMAN			Transcript		benign(0.045)	.	ENSP00000297668	8.24E-06	CCDS6616.1			1	
PSMB7	0	LGGM	GRCh37	9	127174756	127174756	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	8	.	.	ENST00000259457.3:c.270G>T	p.Gly90=	p.G90=	ENST00000259457	NM_002799.3	90	ggG/ggT	0	1	1	UPI00001325C7	0		ENST00000259457		ENSG00000136930	9544		37			HGNC	p.G90G		PSMB7		SNV							ENST00000441097	protein_coding			Superfamily_domains:SSF56235,Gene3D:3.60.20.10,Pfam_domain:PF00227,PROSITE_patterns:PS00854,hmmpanther:PTHR11599,hmmpanther:PTHR11599:SF42,PROSITE_profiles:PS51476,Low_complexity_(Seg):seg		G		A		284/980				E9KL30_HUMAN			YES	PSMB7,synonymous_variant,p.=,ENST00000536392,;PSMB7,synonymous_variant,p.=,ENST00000259457,NM_002799.3;PSMB7,synonymous_variant,p.=,ENST00000441097,;PSMB7,non_coding_transcript_exon_variant,,ENST00000498485,;PSMB7,non_coding_transcript_exon_variant,,ENST00000466951,;							LOW	270/834		PSB7_HUMAN			Transcript			.	ENSP00000259457		CCDS6855.1			1	
ZFHX4	0	LGGM	GRCh37	8	77764289	77764289	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	144	8	.	.	ENST00000521891.2:c.5132C>A	p.Pro1711His	p.P1711H	ENST00000521891	NM_024721.4	1711	cCt/cAt	0	1	1	UPI0000424CC7	0	NA	ENST00000521891		ENSG00000091656	30939		152	1.905		HGNC	p.P1666H		ZFHX4		SNV							ENST00000455469	protein_coding	getma.org/?cm=var&var=hg19,8,77764289,C,A&fts=all		hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,Low_complexity_(Seg):seg		P/H		A	medium	5580/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=1573&re=1772&var=P1666H		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Pro1711His,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Pro1666His,ENST00000455469,;ZFHX4,missense_variant,p.Pro1685His,ENST00000518282,;ZFHX4,missense_variant,p.Pro1666His,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000523625,;ZFHX4,downstream_gene_variant,,ENST00000522409,;ZFHX4,downstream_gene_variant,,ENST00000519536,;							MODERATE	5132/10851	P1666H				Transcript		probably_damaging(0.95)	.	ENSP00000430497		CCDS47878.2			1	
PPFIA1	0	LGGM	GRCh37	11	70178098	70178098	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	78	8	.	.	ENST00000253925.7:c.1110C>T	p.Arg370=	p.R370=	ENST00000253925	NM_003626.3	370	cgC/cgT	0	1	1	UPI0000072426	0		ENST00000253925		ENSG00000131626	9245		86			HGNC	p.R370R		PPFIA1		SNV							ENST00000532504	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12587,hmmpanther:PTHR12587:SF15		R		T		1325/5234				E9PPF6_HUMAN,E9PID5_HUMAN,B3KVS8_HUMAN			YES	PPFIA1,synonymous_variant,p.=,ENST00000253925,NM_003626.3;PPFIA1,synonymous_variant,p.=,ENST00000389547,NM_177423.2;PPFIA1,upstream_gene_variant,,ENST00000530798,;AP000487.6,intron_variant,,ENST00000528607,;CTA-797E19.2,upstream_gene_variant,,ENST00000526017,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000530932,;PPFIA1,upstream_gene_variant,,ENST00000532443,;PPFIA1,synonymous_variant,p.=,ENST00000532504,;PPFIA1,synonymous_variant,p.=,ENST00000526262,;PPFIA1,non_coding_transcript_exon_variant,,ENST00000525530,;							LOW	1110/3609		LIPA1_HUMAN			Transcript			.	ENSP00000253925		CCDS31627.1			1	
IDH2	0	LGGM	GRCh37	15	90630802	90630802	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	8	.	.	ENST00000330062.3:c.684C>T	p.Ile228=	p.I228=	ENST00000330062	NM_002168.2	228	atC/atT	0	1	1	UPI000012D1C3	0		ENST00000330062		ENSG00000182054	5383		42			HGNC	p.I119I		IDH2		SNV			1				ENST00000559482	protein_coding			hmmpanther:PTHR11822,Pfam_domain:PF00180,TIGRFAM_domain:TIGR00127,Gene3D:3.40.718.10,PIRSF_domain:PIRSF000108,Superfamily_domains:SSF53659		I		A		798/2694				H0YLL5_HUMAN,B4DSZ6_HUMAN,B4DFL2_HUMAN			YES	IDH2,synonymous_variant,p.=,ENST00000330062,NM_002168.2;IDH2,synonymous_variant,p.=,ENST00000540499,;IDH2,synonymous_variant,p.=,ENST00000539790,;IDH2,synonymous_variant,p.=,ENST00000559482,;IDH2,3_prime_UTR_variant,,ENST00000560061,;							LOW	684/1359		IDHP_HUMAN			Transcript			.	ENSP00000331897		CCDS10359.1			1	
ADAMTSL3	0	LGGM	GRCh37	15	84651147	84651147	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	8	.	.	ENST00000286744.5:c.2767T>C	p.Tyr923His	p.Y923H	ENST00000286744	NM_207517.2	923	Tat/Cat	0	1	1	UPI00001615A5	0	NA	ENST00000286744		ENSG00000156218	14633		53	2.24		HGNC	p.Y923H		ADAMTSL3		SNV							ENST00000286744	protein_coding	getma.org/?cm=var&var=hg19,15,84651147,T,C&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR13723,hmmpanther:PTHR13723:SF169,SMART_domains:SM00409,Superfamily_domains:SSF48726		Y/H		C	medium	2991/7336		getma.org/?cm=msa&ty=f&p=ATL3_HUMAN&rb=917&re=996&var=Y923H	deleterious(0)				YES	ADAMTSL3,missense_variant,p.Tyr923His,ENST00000286744,NM_207517.2;ADAMTSL3,missense_variant,p.Tyr923His,ENST00000567476,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000562296,;ADAMTSL3,downstream_gene_variant,,ENST00000567716,;ADAMTSL3,non_coding_transcript_exon_variant,,ENST00000561483,;							MODERATE	2767/5076	Y923H	ATL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000286744		CCDS10326.1			1	
DLAT	0	LGGM	GRCh37	11	111896441	111896441	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	9	8	.	.	ENST00000280346.6:c.245G>A	p.Gly82Asp	p.G82D	ENST00000280346	NM_001931.4	82	gGc/gAc	0	1	1	UPI000000D963	0	NA	ENST00000280346		ENSG00000150768	2896		17	0.345		HGNC	p.G82D		DLAT		SNV			1				ENST00000280346	protein_coding	getma.org/?cm=var&var=hg19,11,111896441,G,A&fts=all		hmmpanther:PTHR23151,hmmpanther:PTHR23151:SF9		G/D		A	neutral	904/4458		getma.org/?cm=msa&ty=f&p=ODP2_HUMAN&rb=1&re=91&var=G82D	tolerated(0.26)	Q86YI5_HUMAN			YES	DLAT,missense_variant,p.Gly82Asp,ENST00000280346,NM_001931.4;DLAT,missense_variant,p.Gly82Asp,ENST00000393051,;DLAT,missense_variant,p.Gly41Asp,ENST00000531306,;DLAT,5_prime_UTR_variant,,ENST00000537636,;DIXDC1,downstream_gene_variant,,ENST00000440460,NM_001037954.3;DIXDC1,downstream_gene_variant,,ENST00000315253,NM_033425.4;DIXDC1,downstream_gene_variant,,ENST00000389821,;DIXDC1,downstream_gene_variant,,ENST00000530411,;DLAT,intron_variant,,ENST00000533297,;DIXDC1,downstream_gene_variant,,ENST00000524609,;PPIHP1,downstream_gene_variant,,ENST00000428428,;							MODERATE	245/1944	G82D	ODP2_HUMAN			Transcript		benign(0.002)	.	ENSP00000280346		CCDS8354.1			1	
LAMP5	0	LGGM	GRCh37	20	9510299	9510299	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	8	.	.	ENST00000246070.2:c.675C>T	p.Cys225=	p.C225=	ENST00000246070	NM_012261.3	225	tgC/tgT	0	1	1	UPI0000128675	0		ENST00000246070		ENSG00000125869	16097		30			HGNC	p.C225C		LAMP5		SNV							ENST00000246070	protein_coding			hmmpanther:PTHR11506,Pfam_domain:PF01299		C		T		1167/2039							YES	LAMP5,synonymous_variant,p.=,ENST00000246070,NM_012261.3;LAMP5,synonymous_variant,p.=,ENST00000427562,NM_001199897.1;							LOW	675/843		LAMP5_HUMAN			Transcript			.	ENSP00000246070		CCDS13106.1			1	
CYLC1	0	LGGM	GRCh37	X	83129375	83129375	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	8	.	.	ENST00000329312.4:c.1659G>A	p.Gly553=	p.G553=	ENST00000329312	NM_021118.2	553	ggG/ggA	0	1	1	UPI0000251E1D	0		ENST00000329312		ENSG00000183035	2582		24			HGNC	p.G553G	rs771696188	CYLC1		SNV							ENST00000329312	protein_coding			hmmpanther:PTHR16742,hmmpanther:PTHR16742:SF1		G		A		1696/2106							YES	CYLC1,synonymous_variant,p.=,ENST00000329312,NM_021118.2;							LOW	1659/1956		CYLC1_HUMAN			Transcript			.	ENSP00000331556		CCDS35341.1			1	
SPRED1	0	LGGM	GRCh37	15	38643399	38643399	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	8	.	.	ENST00000299084.4:c.869C>T	p.Ser290Leu	p.S290L	ENST00000299084	NM_152594.2	290	tCa/tTa	0	1	1	UPI0000072FBD	0	NA	ENST00000299084		ENSG00000166068	20249		32	1.1		HGNC	p.S290L		SPRED1		SNV			1				ENST00000299084	protein_coding	getma.org/?cm=var&var=hg19,15,38643399,C,T&fts=all		hmmpanther:PTHR11202:SF18,hmmpanther:PTHR11202		S/L		T	low	1729/7780		getma.org/?cm=msa&ty=f&p=SPRE1_HUMAN&rb=121&re=320&var=S290L	tolerated(0.46)	H0YMN8_HUMAN			YES	SPRED1,missense_variant,p.Ser290Leu,ENST00000299084,NM_152594.2;							MODERATE	869/1335	S290L	SPRE1_HUMAN			Transcript		benign(0.017)	.	ENSP00000299084		CCDS32193.1			1	
PGPEP1	0	LGGM	GRCh37	19	18466759	18466759	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	8	.	.	ENST00000269919.6:c.142C>T	p.Pro48Ser	p.P48S	ENST00000269919	NM_017712.2	48	Ccg/Tcg	0	1	1	UPI0000049B15	0	getma.org/pdb.php?prot=PGPI_HUMAN&from=6&to=184&var=P48S	ENST00000269919		ENSG00000130517	13568		38	2.43		HGNC	p.P48S		PGPEP1		SNV							ENST00000595552	protein_coding	getma.org/?cm=var&var=hg19,19,18466759,C,T&fts=all		Superfamily_domains:SSF53182,PIRSF_domain:PIRSF015592,Gene3D:3.40.630.20,Pfam_domain:PF01470,hmmpanther:PTHR23402:SF11,hmmpanther:PTHR23402		P/S		T	medium	237/7092		getma.org/?cm=msa&ty=f&p=PGPI_HUMAN&rb=6&re=184&var=P48S	deleterious(0)	U3KQG9_HUMAN,Q8IVT1_HUMAN			YES	PGPEP1,missense_variant,p.Pro48Ser,ENST00000269919,NM_017712.2;PGPEP1,missense_variant,p.Pro48Ser,ENST00000604499,;PGPEP1,missense_variant,p.Pro48Ser,ENST00000595066,;PGPEP1,missense_variant,p.Pro48Ser,ENST00000597431,;PGPEP1,5_prime_UTR_variant,,ENST00000252813,;PGPEP1,upstream_gene_variant,,ENST00000595552,;PGPEP1,upstream_gene_variant,,ENST00000597663,;PGPEP1,missense_variant,p.Ser88Phe,ENST00000600283,;PGPEP1,missense_variant,p.Ser88Phe,ENST00000596962,;							MODERATE	142/630	P48S	PGPI_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000269919		CCDS12375.1			1	
FRMD5	0	LGGM	GRCh37	15	44166197	44166197	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	8	.	.	ENST00000417257.1:c.1599T>A	p.Arg533=	p.R533=	ENST00000417257	NM_032892.3	533	cgT/cgA	0	1	1	UPI00001A9475	0		ENST00000417257		ENSG00000171877	28214		37			HGNC	p.R533R		FRMD5		SNV							ENST00000417257	protein_coding			hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF5		R		T		1776/5011				A8K1U8_HUMAN			YES	FRMD5,synonymous_variant,p.=,ENST00000417257,NM_032892.3;FRMD5,intron_variant,,ENST00000402883,;FRMD5,intron_variant,,ENST00000484674,;FRMD5,intron_variant,,ENST00000449926,;FRMD5,intron_variant,,ENST00000558108,;FRMD5,3_prime_UTR_variant,,ENST00000421674,;FRMD5,3_prime_UTR_variant,,ENST00000458630,;FRMD5,intron_variant,,ENST00000451277,;FRMD5,downstream_gene_variant,,ENST00000473965,;PIN4P1,downstream_gene_variant,,ENST00000451079,;							LOW	1599/1713		FRMD5_HUMAN			Transcript			.	ENSP00000403067		CCDS10107.2			1	
ARRB2	0	LGGM	GRCh37	17	4621942	4621942	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	8	.	.	ENST00000412477.3:c.805G>A	p.Ala269Thr	p.A269T	ENST00000412477		269	Gcc/Acc	0	1		UPI000004230A	0	getma.org/pdb.php?prot=ARRB2_HUMAN&from=194&to=349&var=A248T	ENST00000269260		ENSG00000141480	712		48	2.325		HGNC	p.A56T	rs772243126	ARRB2		SNV							ENST00000574954	protein_coding	getma.org/?cm=var&var=hg19,17,4621942,G,A&fts=all		Gene3D:1g4mB02,Pfam_domain:PF02752,hmmpanther:PTHR11792,hmmpanther:PTHR11792:SF20,SMART_domains:SM01017,Superfamily_domains:SSF81296		A/T		A	medium	975/1895	1.50E-05	getma.org/?cm=msa&ty=f&p=ARRB2_HUMAN&rb=194&re=349&var=A248T	tolerated(0.28)	Q68DZ5_HUMAN,K7EL17_HUMAN				ARRB2,missense_variant,p.Ala248Thr,ENST00000269260,NM_001257328.1,NM_004313.3,NM_001257330.1;ARRB2,missense_variant,p.Ala269Thr,ENST00000412477,;ARRB2,missense_variant,p.Ala233Thr,ENST00000346341,NM_199004.1,NM_001257331.1;ARRB2,missense_variant,p.Ala56Thr,ENST00000572457,;ARRB2,missense_variant,p.Ala56Thr,ENST00000571206,;ARRB2,missense_variant,p.Ala248Thr,ENST00000575877,NM_001257329.1;ARRB2,missense_variant,p.Ala56Thr,ENST00000574954,;ARRB2,missense_variant,p.Ala233Thr,ENST00000381488,;ARRB2,missense_variant,p.Ala56Thr,ENST00000571428,;ARRB2,downstream_gene_variant,,ENST00000570718,;ARRB2,downstream_gene_variant,,ENST00000570739,;ARRB2,3_prime_UTR_variant,,ENST00000576235,;ARRB2,3_prime_UTR_variant,,ENST00000574502,;ARRB2,downstream_gene_variant,,ENST00000571791,;ARRB2,downstream_gene_variant,,ENST00000573886,;ARRB2,downstream_gene_variant,,ENST00000577054,;ARRB2,downstream_gene_variant,,ENST00000575131,;ARRB2,downstream_gene_variant,,ENST00000572782,;ARRB2,downstream_gene_variant,,ENST00000574888,;ARRB2,downstream_gene_variant,,ENST00000572497,;							MODERATE	742/1230	A248T	ARRB2_HUMAN			Transcript		probably_damaging(0.96)	.	ENSP00000269260	8.24E-06	CCDS11050.1			1	
QRICH1	0	LGGM	GRCh37	3	49070069	49070069	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	8	.	.	ENST00000395443.2:c.2033A>T	p.Gln678Leu	p.Q678L	ENST00000395443	NM_198880.1	678	cAg/cTg	0	1		UPI0000209C85	0	NA	ENST00000357496		ENSG00000198218	24713		43	0.55		HGNC	p.Q678L		QRICH1		SNV							ENST00000424300	protein_coding	getma.org/?cm=var&var=hg19,3,49070069,T,A&fts=all		Pfam_domain:PF12012,hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF25		Q/L		A	neutral	2265/3083		getma.org/?cm=msa&ty=f&p=QRIC1_HUMAN&rb=596&re=760&var=Q678L	tolerated(0.36)	Q9NXG9_HUMAN,Q9H9Z1_HUMAN,C9JIA8_HUMAN,C9JAL2_HUMAN,A1L3Z9_HUMAN				QRICH1,missense_variant,p.Gln678Leu,ENST00000395443,NM_198880.1;QRICH1,missense_variant,p.Gln678Leu,ENST00000357496,NM_017730.2;QRICH1,missense_variant,p.Gln678Leu,ENST00000424300,;IMPDH2,upstream_gene_variant,,ENST00000326739,NM_000884.2;IMPDH2,upstream_gene_variant,,ENST00000429182,;IMPDH2,upstream_gene_variant,,ENST00000442157,;RP13-131K19.6,downstream_gene_variant,,ENST00000607245,;QRICH1,non_coding_transcript_exon_variant,,ENST00000477021,;QRICH1,downstream_gene_variant,,ENST00000479449,;QRICH1,non_coding_transcript_exon_variant,,ENST00000498392,;QRICH1,non_coding_transcript_exon_variant,,ENST00000489642,;QRICH1,non_coding_transcript_exon_variant,,ENST00000469910,;IMPDH2,upstream_gene_variant,,ENST00000462980,;IMPDH2,upstream_gene_variant,,ENST00000485500,;IMPDH2,upstream_gene_variant,,ENST00000491610,;IMPDH2,upstream_gene_variant,,ENST00000496837,;QRICH1,downstream_gene_variant,,ENST00000498440,;							MODERATE	2033/2331	Q678L	QRIC1_HUMAN			Transcript		benign(0.042)	.	ENSP00000350094		CCDS2787.1			1	
S1PR1	0	LGGM	GRCh37	1	101704797	101704797	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	8	.	.	ENST00000305352.6:c.257A>G	p.Asn86Ser	p.N86S	ENST00000305352	NM_001400.4	86	aAt/aGt	0	1	1	UPI0000050421	0	getma.org/pdb.php?prot=S1PR1_HUMAN&from=62&to=311&var=N86S	ENST00000305352		ENSG00000170989	3165		53	1.31		HGNC	p.N86S		S1PR1		SNV							ENST00000305352	protein_coding	getma.org/?cm=var&var=hg19,1,101704797,A,G&fts=all		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		N/S		G	low	632/2909		getma.org/?cm=msa&ty=f&p=S1PR1_HUMAN&rb=62&re=311&var=N86S	tolerated(0.06)	Q7L853_HUMAN			YES	S1PR1,missense_variant,p.Asn86Ser,ENST00000305352,NM_001400.4;RP4-575N6.5,upstream_gene_variant,,ENST00000561748,;RP4-575N6.4,upstream_gene_variant,,ENST00000432195,;S1PR1,non_coding_transcript_exon_variant,,ENST00000475821,;S1PR1,downstream_gene_variant,,ENST00000475289,;							MODERATE	257/1149	N86S	S1PR1_HUMAN			Transcript		probably_damaging(0.923)	.	ENSP00000305416		CCDS777.1			1	
LPPR1	0	LGGM	GRCh37	9	104075218	104075218	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	8	.	.	ENST00000374874.3:c.775G>A	p.Ala259Thr	p.A259T	ENST00000374874	NM_207299.1	259	Gct/Act	0	1	1	UPI0000034FFA	0	NA	ENST00000374874		ENSG00000148123			73	2.37		Uniprot_gn	p.A259T		LPPR1		SNV							ENST00000374874	protein_coding	getma.org/?cm=var&var=hg19,9,104075218,G,A&fts=all		Gene3D:1.20.144.10,Pfam_domain:PF01569,hmmpanther:PTHR10165,hmmpanther:PTHR10165:SF41,SMART_domains:SM00014,Superfamily_domains:SSF48317,Transmembrane_helices:TMhelix		A/T		A	medium	1214/2495		getma.org/?cm=msa&ty=f&p=LPPR1_HUMAN&rb=127&re=280&var=A259T	deleterious(0)	M9MML5_HUMAN,B7Z8R9_HUMAN			YES	LPPR1,missense_variant,p.Ala259Thr,ENST00000374874,NM_207299.1;LPPR1,missense_variant,p.Ala259Thr,ENST00000395056,NM_017753.2;LPPR1,downstream_gene_variant,,ENST00000463206,;							MODERATE	775/978	A259T	LPPR1_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000364008		CCDS6751.1			1	
TRAV8-7	0	LGGM	GRCh37	14	22600819	22600819	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	8	.	.	ENST00000390456.3:c.164A>T	p.Gln55Leu	p.Q55L	ENST00000390456		55	cAa/cTa	0	1	1	UPI00021CF0E2	0		ENST00000390456		ENSG00000211808	12152		35			HGNC	p.Q55L		TRAV8-7		SNV							ENST00000390456	TR_V_gene			Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19367,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		Q/L		T		164/341			deleterious(0)				YES	TRAV8-7,missense_variant,p.Gln55Leu,ENST00000390456,;							MODERATE	164/341					Transcript		probably_damaging(0.991)	.	ENSP00000450448					1	
STOX2	0	LGGM	GRCh37	4	184922555	184922555	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	8	.	.	ENST00000308497.4:c.244A>G	p.Ile82Val	p.I82V	ENST00000308497	NM_020225.1	82	Atc/Gtc	0	1	1	UPI00001C1E11	0	NA	ENST00000308497		ENSG00000173320	25450		64	1.62		HGNC	p.I82V		STOX2		SNV							ENST00000308497	protein_coding	getma.org/?cm=var&var=hg19,4,184922555,A,G&fts=all		Pfam_domain:PF10264,hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF2		I/V		G	low	1679/10458		getma.org/?cm=msa&ty=f&p=STOX2_HUMAN&rb=63&re=142&var=I82V	tolerated(0.18)	D6RDA5_HUMAN			YES	STOX2,missense_variant,p.Ile82Val,ENST00000308497,NM_020225.1;STOX2,missense_variant,p.Ile82Val,ENST00000438269,;STOX2,missense_variant,p.Ile20Val,ENST00000512520,;STOX2,missense_variant,p.Ile27Val,ENST00000513034,;STOX2,non_coding_transcript_exon_variant,,ENST00000511250,;							MODERATE	244/2781	I82V	STOX2_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000311257		CCDS47167.1			1	
OTOL1	0	LGGM	GRCh37	3	161221209	161221209	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	8	.	.	ENST00000327928.4:c.913G>A	p.Gly305Arg	p.G305R	ENST00000327928	NM_001080440.1	305	Gga/Aga	0	1	1	UPI0000D61BA3	0	NA	ENST00000327928		ENSG00000182447	34071		26	4.355		HGNC	p.G305R		OTOL1		SNV							ENST00000327928	protein_coding	getma.org/?cm=var&var=hg19,3,161221209,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24022,hmmpanther:PTHR24022:SF25,Pfam_domain:PF01391		G/R		A	high	913/1434		getma.org/?cm=msa&ty=f&p=OTOL1_HUMAN&rb=278&re=339&var=G305R	deleterious(0)				YES	OTOL1,missense_variant,p.Gly305Arg,ENST00000327928,NM_001080440.1;							MODERATE	913/1434	G305R	OTOL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330808		CCDS46948.1			1	
MAML1	0	LGGM	GRCh37	5	179192404	179192404	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	8	.	.	ENST00000292599.3:c.393G>A	p.Gly131=	p.G131=	ENST00000292599	NM_014757.4	131	ggG/ggA	0	1	1	UPI0000071286	0		ENST00000292599		ENSG00000161021	13632		47			HGNC	p.G131G		MAML1		SNV							ENST00000292599	protein_coding			hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF19		G		A		656/5723							YES	MAML1,synonymous_variant,p.=,ENST00000292599,NM_014757.4;MAML1,non_coding_transcript_exon_variant,,ENST00000503050,;MAML1,upstream_gene_variant,,ENST00000507385,;							LOW	393/3051		MAML1_HUMAN			Transcript			.	ENSP00000292599		CCDS34315.1			1	
SMARCA2	0	LGGM	GRCh37	9	2191342	2191342	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	8	.	.	ENST00000382203.1:c.4671G>A	p.Arg1557=	p.R1557=	ENST00000382203		1557	agG/agA	0	1		UPI00001AE8EB	0		ENST00000349721		ENSG00000080503	11098		47			HGNC	p.R1557R		SMARCA2		SNV			1				ENST00000382203	protein_coding			hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF541,Low_complexity_(Seg):seg		R		A		4770/5757				Q6LC24_HUMAN,Q56A76_HUMAN,F6XDY1_HUMAN,F6VDE0_HUMAN,F6RS74_HUMAN,F6QYQ1_HUMAN,B1ALG5_HUMAN,B1ALG2_HUMAN				SMARCA2,synonymous_variant,p.=,ENST00000382203,;SMARCA2,synonymous_variant,p.=,ENST00000349721,NM_003070.3;SMARCA2,synonymous_variant,p.=,ENST00000357248,NM_139045.2;SMARCA2,synonymous_variant,p.=,ENST00000382194,;SMARCA2,synonymous_variant,p.=,ENST00000302401,;SMARCA2,synonymous_variant,p.=,ENST00000382185,;SMARCA2,synonymous_variant,p.=,ENST00000382183,;SMARCA2,synonymous_variant,p.=,ENST00000324954,;SMARCA2,synonymous_variant,p.=,ENST00000382186,;SMARCA2,synonymous_variant,p.=,ENST00000417599,;							LOW	4671/4773		SMCA2_HUMAN			Transcript			.	ENSP00000265773		CCDS34977.1			1	
RP4-806M20.3	0	LGGM	GRCh37	20	57415416	57415416	+	intron_variant,non_coding_transcript_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	8	.	.	ENST00000424094.2:n.819+1576G>A		*273*	ENST00000424094				0	1			0		ENST00000601795		ENSG00000268333			47		3832	Clone_based_vega_gene	p.D85D		RP4-806M20.3		SNV							ENST00000371075	lincRNA							T		-/1153							YES	GNAS,synonymous_variant,p.=,ENST00000313949,;GNAS,synonymous_variant,p.=,ENST00000371075,NM_016592.2;GNAS,synonymous_variant,p.=,ENST00000371098,;GNAS,synonymous_variant,p.=,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000419558,;RP4-806M20.3,upstream_gene_variant,,ENST00000601795,;GNAS-AS1,non_coding_transcript_exon_variant,,ENST00000443966,;GNAS-AS1,intron_variant,,ENST00000424094,;GNAS-AS1,intron_variant,,ENST00000598163,;GNAS,upstream_gene_variant,,ENST00000491348,;GNAS,upstream_gene_variant,,ENST00000472183,;GNAS,upstream_gene_variant,,ENST00000493744,;GNAS,upstream_gene_variant,,ENST00000482112,;GNAS,upstream_gene_variant,,ENST00000490374,;GNAS,upstream_gene_variant,,ENST00000467227,;GNAS,upstream_gene_variant,,ENST00000462499,;							MODIFIER						Transcript			.						1	
OXCT1	0	LGGM	GRCh37	5	41853652	41853652	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	8	.	.	ENST00000196371.5:c.283G>A	p.Asp95Asn	p.D95N	ENST00000196371	NM_000436.3	95	Gac/Aac	0	1	1	UPI0000000C9A	0	getma.org/pdb.php?prot=SCOT1_HUMAN&from=43&to=272&var=D95N	ENST00000196371		ENSG00000083720	8527		47	3.475		HGNC	p.D95N		OXCT1		SNV			1				ENST00000196371	protein_coding	getma.org/?cm=var&var=hg19,5,41853652,C,T&fts=all		hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF30,Pfam_domain:PF01144,Gene3D:3.40.1080.10,TIGRFAM_domain:TIGR02429,PIRSF_domain:PIRSF000858,SMART_domains:SM00882,Superfamily_domains:SSF100950		D/N		T	medium	444/3388		getma.org/?cm=msa&ty=f&p=SCOT1_HUMAN&rb=43&re=272&var=D95N	deleterious(0.02)	B7Z528_HUMAN,A1E286_HUMAN			YES	OXCT1,missense_variant,p.Asp95Asn,ENST00000196371,NM_000436.3;							MODERATE	283/1563	D95N	SCOT1_HUMAN			Transcript		benign(0.03)	.	ENSP00000196371		CCDS3937.1			1	
DUSP11	0	LGGM	GRCh37	2	74002170	74002170	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	8	.	.	ENST00000272444.3:c.320G>A	p.Ser107Asn	p.S107N	ENST00000272444	NM_003584.2	107	aGt/aAt	0	1	1	UPI0000EE25F4	0	NA	ENST00000272444		ENSG00000144048	3066		34	0.685		HGNC	p.S107N		DUSP11		SNV							ENST00000443070	protein_coding	getma.org/?cm=var&var=hg19,2,74002170,C,T&fts=all		Gene3D:3.90.190.10,hmmpanther:PTHR10367,hmmpanther:PTHR10367:SF5,Superfamily_domains:SSF52799		S/N		T	neutral	362/1653		getma.org/?cm=msa&ty=f&p=DUS11_HUMAN&rb=1&re=77&var=S60N	tolerated(0.2)				YES	DUSP11,missense_variant,p.Ser107Asn,ENST00000443070,;DUSP11,missense_variant,p.Ser107Asn,ENST00000272444,NM_003584.2;DUSP11,missense_variant,p.Ser60Asn,ENST00000377706,;DUSP11,missense_variant,p.Ser58Asn,ENST00000452812,;DUSP11,splice_region_variant,,ENST00000480948,;DUSP11,splice_region_variant,,ENST00000477458,;							MODERATE	320/1134	S60N	DUS11_HUMAN			Transcript		benign(0.011)	.	ENSP00000272444		CCDS1928.2			1	
TMPRSS15	0	LGGM	GRCh37	21	19737552	19737552	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	8	.	.	ENST00000284885.3:c.678T>A	p.Asp226Glu	p.D226E	ENST00000284885	NM_002772.2	226	gaT/gaA	0	1	1	UPI000013DDBE	0	getma.org/pdb.php?prot=ENTK_HUMAN&from=225&to=331&var=D226E	ENST00000284885		ENSG00000154646	9490		58	2.535		HGNC	p.D196E		TMPRSS15		SNV			1				ENST00000422787	protein_coding	getma.org/?cm=var&var=hg19,21,19737552,A,T&fts=all		PROSITE_profiles:PS01180,Gene3D:2.60.120.290,Pfam_domain:PF00431,SMART_domains:SM00042		D/E		T	medium	712/3947		getma.org/?cm=msa&ty=f&p=ENTK_HUMAN&rb=225&re=331&var=D226E	deleterious(0)	Q9NR95_HUMAN			YES	TMPRSS15,missense_variant,p.Asp226Glu,ENST00000284885,NM_002772.2;TMPRSS15,missense_variant,p.Asp196Glu,ENST00000422787,;TMPRSS15,downstream_gene_variant,,ENST00000474775,;							MODERATE	678/3060	D226E	ENTK_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000284885		CCDS13571.1			1	
CDC42EP2	0	LGGM	GRCh37	11	65088638	65088638	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	8	.	.	ENST00000544348.1:c.269C>T	p.Thr90Ile	p.T90I	ENST00000544348		90	aCc/aTc	0	1		UPI000000D7F5	0	NA	ENST00000279249		ENSG00000149798	16263		31	1.39		HGNC	p.T90I		CDC42EP2		SNV							ENST00000533419	protein_coding	getma.org/?cm=var&var=hg19,11,65088638,C,T&fts=all		hmmpanther:PTHR15344:SF4,hmmpanther:PTHR15344,PIRSF_domain:PIRSF038036		T/I		T	low	761/2023		getma.org/?cm=msa&ty=f&p=BORG1_HUMAN&rb=88&re=210&var=T90I	deleterious(0.01)					CDC42EP2,missense_variant,p.Thr90Ile,ENST00000544348,;CDC42EP2,missense_variant,p.Thr90Ile,ENST00000279249,NM_006779.3;CDC42EP2,missense_variant,p.Thr90Ile,ENST00000533419,;							MODERATE	269/633	T90I	BORG1_HUMAN			Transcript		benign(0.148)	.	ENSP00000279249		CCDS8099.1			1	
PEG3	0	LGGM	GRCh37	19	57335634	57335634	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	8	.	.	ENST00000326441.9:c.390A>G	p.Pro130=	p.P130=	ENST00000326441	NM_006210.2	130	ccA/ccG	0	1	1	UPI000006D36D	0		ENST00000326441		ENSG00000198300	8826	8.64E-05	38			HGNC	p.P4P	rs764482053	PEG3		SNV							ENST00000597281	protein_coding			Pfam_domain:PF02023,hmmpanther:PTHR10032,hmmpanther:PTHR10032:SF78,SMART_domains:SM00431		P		C		754/8723				M0QXG1_HUMAN			YES	PEG3,synonymous_variant,p.=,ENST00000326441,NM_006210.2;PEG3,synonymous_variant,p.=,ENST00000423103,NM_001146184.1;PEG3,synonymous_variant,p.=,ENST00000598410,NM_001146185.1,NM_001146187.1;PEG3,synonymous_variant,p.=,ENST00000599534,NM_001146186.1;PEG3,synonymous_variant,p.=,ENST00000599577,;PEG3,synonymous_variant,p.=,ENST00000593695,;ZIM2,synonymous_variant,p.=,ENST00000391708,NM_001146327.1,NM_001146326.1;ZIM2,synonymous_variant,p.=,ENST00000599935,;ZIM2,synonymous_variant,p.=,ENST00000221722,NM_015363.4;ZIM2,synonymous_variant,p.=,ENST00000593711,;ZIM2,synonymous_variant,p.=,ENST00000601070,;PEG3,synonymous_variant,p.=,ENST00000600833,;ZIM2,synonymous_variant,p.=,ENST00000593931,;PEG3,downstream_gene_variant,,ENST00000594389,;PEG3,downstream_gene_variant,,ENST00000594706,;PEG3,downstream_gene_variant,,ENST00000596261,;ZIM2,synonymous_variant,p.=,ENST00000595671,;ZIM2,synonymous_variant,p.=,ENST00000597281,;							LOW	390/4767		PEG3_HUMAN			Transcript			.	ENSP00000326581	8.24E-06	CCDS12948.1			1	
ABCC12	0	LGGM	GRCh37	16	48162397	48162397	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	57	8	.	.	ENST00000311303.3:c.1488G>A	p.Leu496=	p.L496=	ENST00000311303	NM_033226.2	496	ctG/ctA	0	1	1	UPI0000456987	0		ENST00000311303		ENSG00000140798	14640		65			HGNC	p.L496L		ABCC12		SNV							ENST00000448542	protein_coding			Gene3D:3.40.50.300,Pfam_domain:PF00005,PROSITE_profiles:PS50893,hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10,Superfamily_domains:SSF52540		L		T		1834/5168				E9PHY2_HUMAN			YES	ABCC12,synonymous_variant,p.=,ENST00000311303,NM_033226.2;ABCC12,synonymous_variant,p.=,ENST00000416054,;ABCC12,synonymous_variant,p.=,ENST00000448542,;ABCC12,synonymous_variant,p.=,ENST00000529084,;ABCC12,synonymous_variant,p.=,ENST00000534418,;ABCC12,synonymous_variant,p.=,ENST00000497206,;ABCC12,synonymous_variant,p.=,ENST00000532494,;ABCC12,synonymous_variant,p.=,ENST00000529504,;ABCC12,non_coding_transcript_exon_variant,,ENST00000528693,;							LOW	1488/4080		MRP9_HUMAN			Transcript			.	ENSP00000311030		CCDS10730.1			1	
ATP2B1	0	LGGM	GRCh37	12	90024420	90024420	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	8	.	.	ENST00000428670.3:c.790A>G	p.Thr264Ala	p.T264A	ENST00000428670		264	Act/Gct	0	1	1	UPI000002A436	0	getma.org/pdb.php?prot=AT2B1_HUMAN&from=158&to=465&var=T264A	ENST00000428670		ENSG00000070961	814		29	2.67		HGNC	p.T264A		ATP2B1		SNV							ENST00000428670	protein_coding	getma.org/?cm=var&var=hg19,12,90024420,T,C&fts=all		Superfamily_domains:0049471,Gene3D:2.70.150.10,Pfam_domain:PF00122,hmmpanther:PTHR24093,hmmpanther:PTHR24093:SF245,TIGRFAM_domain:TIGR01494		T/A		C	medium	1247/7032		getma.org/?cm=msa&ty=f&p=AT2B1_HUMAN&rb=158&re=465&var=T264A	deleterious(0)	Q3L582_HUMAN			YES	ATP2B1,missense_variant,p.Thr264Ala,ENST00000428670,;ATP2B1,missense_variant,p.Thr264Ala,ENST00000359142,NM_001001323.1;ATP2B1,missense_variant,p.Thr264Ala,ENST00000261173,NM_001682.2;ATP2B1,missense_variant,p.Thr264Ala,ENST00000348959,;ATP2B1,missense_variant,p.Thr7Ala,ENST00000393164,;							MODERATE	790/3663	T264A	AT2B1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000392043		CCDS9035.1			1	
EEF2K	0	LGGM	GRCh37	16	22237276	22237276	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	8	.	.	ENST00000263026.5:c.226G>A	p.Ala76Thr	p.A76T	ENST00000263026	NM_013302.3	76	Gca/Aca	0	1	1	UPI000013D387	0	NA	ENST00000263026		ENSG00000103319	24615		47	0.69		HGNC	p.A76T		EEF2K		SNV							ENST00000568269	protein_coding	getma.org/?cm=var&var=hg19,16,22237276,G,A&fts=all		PIRSF_domain:PIRSF038139,hmmpanther:PTHR14187		A/T		A	neutral	700/5289		getma.org/?cm=msa&ty=f&p=EF2K_HUMAN&rb=1&re=137&var=A76T	tolerated(0.52)				YES	EEF2K,missense_variant,p.Ala76Thr,ENST00000263026,NM_013302.3;EEF2K,missense_variant,p.Ala76Thr,ENST00000568269,;							MODERATE	226/2178	A76T	EF2K_HUMAN			Transcript		benign(0.05)	.	ENSP00000263026		CCDS10604.1			1	
KCTD1	0	LGGM	GRCh37	18	24039722	24039722	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	8	.	.	ENST00000408011.3:c.477T>C	p.Gly159=	p.G159=	ENST00000408011	NM_001136205.2	159	ggT/ggC	0	1		UPI00001CDFF1	0		ENST00000317932		ENSG00000134504	18249		56			HGNC	p.G159G		KCTD1		SNV			1				ENST00000317932	protein_coding			hmmpanther:PTHR14499:SF65,hmmpanther:PTHR14499		G		G		588/1715				J3KSG1_HUMAN				KCTD1,synonymous_variant,p.=,ENST00000417602,NM_001142730.2;KCTD1,synonymous_variant,p.=,ENST00000408011,NM_001136205.2;KCTD1,synonymous_variant,p.=,ENST00000579973,NM_198991.3,NM_001258221.1;KCTD1,synonymous_variant,p.=,ENST00000317932,;KCTD1,synonymous_variant,p.=,ENST00000580059,;KCTD1,synonymous_variant,p.=,ENST00000580191,NM_001258222.1;KCTD1,synonymous_variant,p.=,ENST00000580638,;KCTD1,downstream_gene_variant,,ENST00000578973,;KCTD1,non_coding_transcript_exon_variant,,ENST00000582494,;KCTD1,non_coding_transcript_exon_variant,,ENST00000577255,;							LOW	477/774		KCTD1_HUMAN			Transcript			.	ENSP00000314831		CCDS11888.1			1	
SPARC	0	LGGM	GRCh37	5	151054224	151054224	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	8	.	.	ENST00000231061.4:c.69C>T	p.Ala23=	p.A23=	ENST00000231061	NM_003118.3	23	gcC/gcT	0	1	1	UPI0000040638	0		ENST00000231061		ENSG00000113140	11219		62			HGNC	p.A23A		SPARC		SNV							ENST00000522348	protein_coding			hmmpanther:PTHR13866,hmmpanther:PTHR13866:SF6		A		A		383/3701				F5H4E2_HUMAN,F5GY03_HUMAN,E5RK62_HUMAN,E5RJA5_HUMAN,D3DQH8_HUMAN			YES	SPARC,synonymous_variant,p.=,ENST00000231061,NM_003118.3;SPARC,synonymous_variant,p.=,ENST00000539687,;SPARC,synonymous_variant,p.=,ENST00000522348,;SPARC,intron_variant,,ENST00000521569,;SPARC,intron_variant,,ENST00000538026,;CTB-113P19.1,upstream_gene_variant,,ENST00000510576,;CTB-113P19.1,upstream_gene_variant,,ENST00000518905,;SPARC,non_coding_transcript_exon_variant,,ENST00000521327,;SPARC,upstream_gene_variant,,ENST00000524277,;							LOW	69/912		SPRC_HUMAN			Transcript			.	ENSP00000231061		CCDS4318.1			1	
NWD1	0	LGGM	GRCh37	19	16902328	16902328	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	8	.	.	ENST00000524140.2:c.3108G>A	p.Gly1036=	p.G1036=	ENST00000524140	NM_001007525.3	1036	ggG/ggA	0	1		UPI0001AE63B7	0		ENST00000552788		ENSG00000188039	27619		27			HGNC	p.G830G		NWD1		SNV							ENST00000523826	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR22847,hmmpanther:PTHR22847:SF273,SMART_domains:SM00320,Superfamily_domains:SSF50998		G		A		3108/6964				E9PBV1_HUMAN				NWD1,synonymous_variant,p.=,ENST00000524140,NM_001007525.3;NWD1,synonymous_variant,p.=,ENST00000552788,;NWD1,synonymous_variant,p.=,ENST00000549814,;NWD1,synonymous_variant,p.=,ENST00000523826,;NWD1,synonymous_variant,p.=,ENST00000379808,;NWD1,synonymous_variant,p.=,ENST00000339803,;NWD1,3_prime_UTR_variant,,ENST00000518676,;NWD1,3_prime_UTR_variant,,ENST00000438489,;							LOW	3108/4695		NWD1_HUMAN			Transcript			.	ENSP00000447224					1	
BAZ1B	0	LGGM	GRCh37	7	72880701	72880701	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	8	.	.	ENST00000339594.4:c.2897G>A	p.Ser966Asn	p.S966N	ENST00000339594	NM_032408.3	966	aGc/aAc	0	1	1	UPI0000126731	0	NA	ENST00000339594		ENSG00000009954	961		43	0.695		HGNC	p.S966N		BAZ1B		SNV			1				ENST00000339594	protein_coding	getma.org/?cm=var&var=hg19,7,72880701,C,T&fts=all		hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF60		S/N		T	neutral	3236/6102		getma.org/?cm=msa&ty=f&p=BAZ1B_HUMAN&rb=921&re=1120&var=S966N	tolerated(0.29)				YES	BAZ1B,missense_variant,p.Ser966Asn,ENST00000339594,NM_032408.3;BAZ1B,missense_variant,p.Ser966Asn,ENST00000404251,;BAZ1B,non_coding_transcript_exon_variant,,ENST00000466844,;							MODERATE	2897/4452	S966N	BAZ1B_HUMAN			Transcript		benign(0.001)	.	ENSP00000342434		CCDS5549.1			1	
CNOT11	0	LGGM	GRCh37	2	101874253	101874253	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	8	.	.	ENST00000289382.3:c.515G>A	p.Gly172Glu	p.G172E	ENST00000289382	NM_017546.4	172	gGa/gAa	0	1	1	UPI00000715FD	0	NA	ENST00000289382		ENSG00000158435	25217		36	0.945		HGNC	p.G172E		CNOT11		SNV							ENST00000289382	protein_coding	getma.org/?cm=var&var=hg19,2,101874253,G,A&fts=all		hmmpanther:PTHR15975		G/E		A	low	678/2599		getma.org/?cm=msa&ty=f&p=CB029_HUMAN&rb=1&re=200&var=G172E	tolerated(0.05)	B3KNB0_HUMAN			YES	CNOT11,missense_variant,p.Gly172Glu,ENST00000289382,NM_017546.4;TBC1D8,upstream_gene_variant,,ENST00000462819,;TBC1D8,upstream_gene_variant,,ENST00000463469,;TBC1D8,upstream_gene_variant,,ENST00000485851,;CNOT11,upstream_gene_variant,,ENST00000462489,;							MODERATE	515/1533	G172E	CNO11_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000289382		CCDS2050.1			1	
FMO6P	0	LGGM	GRCh37	1	171107410	171107410	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	8	.	.	ENST00000236166.3:c.60C>T	p.Cys20=	p.C20=	ENST00000236166		20	tgC/tgT	0	1	1	UPI00033351F0	0		ENST00000236166		ENSG00000117507	24024		43			HGNC	p.C20C		FMO6P		SNV							ENST00000236166	protein_coding			Gene3D:3.50.50.60,Pfam_domain:PF00743,hmmpanther:PTHR23023,hmmpanther:PTHR23023:SF81,Superfamily_domains:SSF51905		C		T		170/1699							YES	FMO6P,synonymous_variant,p.=,ENST00000236166,;FMO6P,synonymous_variant,p.=,ENST00000367754,;							LOW	60/1257		FMO6_HUMAN			Transcript			.	ENSP00000236166					1	
ZNF24	0	LGGM	GRCh37	18	32917642	32917642	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	92	8	.	.	ENST00000261332.6:c.661A>G	p.Met221Val	p.M221V	ENST00000261332	NM_006965.2	221	Atg/Gtg	0	1	1	UPI000013D166	0	NA	ENST00000261332		ENSG00000172466	13032		100	0.895		HGNC	p.M221V		ZNF24		SNV							ENST00000399061	protein_coding	getma.org/?cm=var&var=hg19,18,32917642,T,C&fts=all		hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF20		M/V		C	low	841/6307		getma.org/?cm=msa&ty=f&p=ZNF24_HUMAN&rb=142&re=264&var=M221V	tolerated(0.63)	K7EQP8_HUMAN,K7EPZ8_HUMAN,K7EPL1_HUMAN			YES	ZNF24,missense_variant,p.Met221Val,ENST00000261332,NM_006965.2;ZNF24,missense_variant,p.Met221Val,ENST00000399061,;ZNF24,3_prime_UTR_variant,,ENST00000589881,;ZNF24,downstream_gene_variant,,ENST00000590140,;ZNF24,downstream_gene_variant,,ENST00000589539,;ZNF24,downstream_gene_variant,,ENST00000593130,;							MODERATE	661/1107	M221V	ZNF24_HUMAN			Transcript		benign(0)	.	ENSP00000261332		CCDS11912.1			1	
SACS	0	LGGM	GRCh37	13	23907683	23907683	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	8	.	.	ENST00000382298.3:c.10332G>A	p.Trp3444Ter	p.W3444*	ENST00000382298	NM_014363.5	3444	tgG/tgA	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		63	0		HGNC	p.W3444X		SACS		SNV			1				ENST00000382292	protein_coding	getma.org/?cm=var&var=hg19,13,23907683,C,T&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		W/*		T	NA	10606/15324		NA						SACS,stop_gained,p.Trp3444Ter,ENST00000382298,NM_014363.5;SACS,stop_gained,p.Trp3444Ter,ENST00000382292,;SACS,stop_gained,p.Trp2694Ter,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							HIGH	10332/13740	W3444*	SACS_HUMAN			Transcript			.	ENSP00000371729		CCDS9300.2			1	
KHDRBS2	0	LGGM	GRCh37	6	62604562	62604562	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	8	.	.	ENST00000281156.4:c.788C>T	p.Ala263Val	p.A263V	ENST00000281156	NM_152688.2	263	gCc/gTc	0	1	1	UPI000004D256	0	NA	ENST00000281156		ENSG00000112232	18114		25	0.625		HGNC	p.A263V		KHDRBS2		SNV							ENST00000281156	protein_coding	getma.org/?cm=var&var=hg19,6,62604562,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11208,hmmpanther:PTHR11208:SF34		A/V		A	neutral	1067/2332		getma.org/?cm=msa&ty=f&p=KHDR2_HUMAN&rb=141&re=271&var=A263V	tolerated(0.09)				YES	KHDRBS2,missense_variant,p.Ala263Val,ENST00000281156,NM_152688.2;							MODERATE	788/1050	A263V	KHDR2_HUMAN			Transcript		benign(0.112)	.	ENSP00000281156		CCDS4963.1			1	
STOX2	0	LGGM	GRCh37	4	184931874	184931874	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	8	.	.	ENST00000308497.4:c.1883C>T	p.Thr628Ile	p.T628I	ENST00000308497	NM_020225.1	628	aCt/aTt	0	1	1	UPI00001C1E11	0	NA	ENST00000308497		ENSG00000173320	25450		50	0.805		HGNC	p.T628I		STOX2		SNV							ENST00000308497	protein_coding	getma.org/?cm=var&var=hg19,4,184931874,C,T&fts=all		hmmpanther:PTHR22437,hmmpanther:PTHR22437:SF2		T/I		T	low	3318/10458		getma.org/?cm=msa&ty=f&p=STOX2_HUMAN&rb=543&re=742&var=T628I	tolerated_low_confidence(0.1)	D6RDA5_HUMAN			YES	STOX2,missense_variant,p.Thr628Ile,ENST00000308497,NM_020225.1;STOX2,missense_variant,p.Thr628Ile,ENST00000438269,;STOX2,intron_variant,,ENST00000513034,;STOX2,downstream_gene_variant,,ENST00000512520,;STOX2,upstream_gene_variant,,ENST00000506529,;							MODERATE	1883/2781	T628I	STOX2_HUMAN			Transcript		benign(0.358)	.	ENSP00000311257		CCDS47167.1			1	
EFCAB6	0	LGGM	GRCh37	22	44168783	44168783	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	8	.	.	ENST00000262726.7:c.340G>A	p.Val114Met	p.V114M	ENST00000262726	NM_022785.3	114	Gtg/Atg	0	1	1	UPI0000225CD7	0	getma.org/pdb.php?prot=EFCB6_HUMAN&from=1&to=200&var=V114M	ENST00000262726		ENSG00000186976	24204		35	0.49		HGNC	p.V114M	rs766623834	EFCAB6		SNV							ENST00000262726	protein_coding	getma.org/?cm=var&var=hg19,22,44168783,C,T&fts=all		Gene3D:1.10.238.10,Superfamily_domains:SSF47473		V/M		T	neutral	594/4869	3.00E-05	getma.org/?cm=msa&ty=f&p=EFCB6_HUMAN&rb=1&re=200&var=V114M	deleterious(0.01)				YES	EFCAB6,missense_variant,p.Val114Met,ENST00000262726,NM_022785.3;EFCAB6,intron_variant,,ENST00000396231,NM_198856.2;EFCAB6,intron_variant,,ENST00000356087,;EFCAB6,intron_variant,,ENST00000358439,;EFCAB6,intron_variant,,ENST00000476600,;EFCAB6,non_coding_transcript_exon_variant,,ENST00000404038,;							MODERATE	340/4506	V114M	EFCB6_HUMAN			Transcript		possibly_damaging(0.846)	.	ENSP00000262726	1.65E-05	CCDS14049.1			1	
SACS	0	LGGM	GRCh37	13	23908354	23908354	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	8	.	.	ENST00000382298.3:c.9661G>T	p.Val3221Leu	p.V3221L	ENST00000382298	NM_014363.5	3221	Gtg/Ttg	0	1		UPI000047039D	0	NA	ENST00000382292		ENSG00000151835	10519		39	0.895		HGNC	p.V3221L		SACS		SNV			1				ENST00000382292	protein_coding	getma.org/?cm=var&var=hg19,13,23908354,C,A&fts=all		hmmpanther:PTHR15600:SF26,hmmpanther:PTHR15600		V/L		A	low	9935/15324		getma.org/?cm=msa&ty=f&p=SACS_HUMAN&rb=3082&re=3281&var=V3221L						SACS,missense_variant,p.Val3221Leu,ENST00000382298,NM_014363.5;SACS,missense_variant,p.Val3221Leu,ENST00000382292,;SACS,missense_variant,p.Val2471Leu,ENST00000402364,NM_001278055.1;SACS,intron_variant,,ENST00000455470,;SACS,intron_variant,,ENST00000423156,;							MODERATE	9661/13740	V3221L	SACS_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000371729		CCDS9300.2			1	
GBE1	0	LGGM	GRCh37	3	81548284	81548284	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	8	.	.	ENST00000429644.2:c.2029A>T	p.Asn677Tyr	p.N677Y	ENST00000429644	NM_000158.3	677	Aat/Tat	0	1	1	UPI0000209A24	0	getma.org/pdb.php?prot=GLGB_HUMAN&from=603&to=698&var=N677Y	ENST00000429644		ENSG00000114480	4180		55	2.82		HGNC	p.N677Y		GBE1		SNV			1				ENST00000429644	protein_coding	getma.org/?cm=var&var=hg19,3,81548284,T,A&fts=all		hmmpanther:PTHR10357,hmmpanther:PTHR10357:SF110,Pfam_domain:PF02806,Gene3D:2.60.40.1180,PIRSF_domain:PIRSF000463,Superfamily_domains:SSF51011		N/Y		A	medium	2673/3461		getma.org/?cm=msa&ty=f&p=GLGB_HUMAN&rb=603&re=698&var=N677Y	deleterious(0)				YES	GBE1,missense_variant,p.Asn677Tyr,ENST00000429644,NM_000158.3;GBE1,missense_variant,p.Asn636Tyr,ENST00000489715,;							MODERATE	2029/2109	N677Y	GLGB_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000410833		CCDS54612.1			1	
ASPHD2	0	LGGM	GRCh37	22	26838453	26838453	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	8	.	.	ENST00000215906.5:c.915G>A	p.Leu305=	p.L305=	ENST00000215906	NM_020437.4	305	ctG/ctA	0	1	1	UPI000037659F	0		ENST00000215906		ENSG00000128203	30437		38			HGNC	p.L305L		ASPHD2		SNV							ENST00000215906	protein_coding			hmmpanther:PTHR12366,hmmpanther:PTHR12366:SF18,Pfam_domain:PF05118,Gene3D:2.60.120.330,Superfamily_domains:SSF51197		L		A		1353/3357				B3KUG5_HUMAN			YES	ASPHD2,synonymous_variant,p.=,ENST00000215906,NM_020437.4;HPS4,downstream_gene_variant,,ENST00000493455,;HPS4,downstream_gene_variant,,ENST00000519774,;							LOW	915/1110		ASPH2_HUMAN			Transcript			.	ENSP00000215906		CCDS13834.2			1	
ELAC2	0	LGGM	GRCh37	17	12919107	12919107	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	85	8	.	.	ENST00000338034.4:c.410T>C	p.Val137Ala	p.V137A	ENST00000338034	NM_018127.6	137	gTa/gCa	0	1	1	UPI000004A07E	0	NA	ENST00000338034		ENSG00000006744	14198		93	2.215		HGNC	p.V118A		ELAC2		SNV			1				ENST00000395962	protein_coding	getma.org/?cm=var&var=hg19,17,12919107,A,G&fts=all		Gene3D:3.60.15.10,hmmpanther:PTHR12553,hmmpanther:PTHR12553:SF44,Superfamily_domains:SSF56281		V/A		G	medium	650/3148		getma.org/?cm=msa&ty=f&p=RNZ2_HUMAN&rb=121&re=320&var=V137A	tolerated(0.09)	Q9HAS7_HUMAN,J3QRS2_HUMAN,J3QL08_HUMAN,B4DT15_HUMAN			YES	ELAC2,missense_variant,p.Val137Ala,ENST00000338034,NM_018127.6,NM_173717.1;ELAC2,missense_variant,p.Val118Ala,ENST00000395962,;ELAC2,missense_variant,p.Val137Ala,ENST00000426905,NM_001165962.1;ELAC2,missense_variant,p.Val43Ala,ENST00000609101,;ELAC2,missense_variant,p.Val43Ala,ENST00000609757,;ELAC2,missense_variant,p.Val43Ala,ENST00000581499,;ELAC2,missense_variant,p.Val43Ala,ENST00000580504,;ELAC2,missense_variant,p.Val137Ala,ENST00000578071,;ELAC2,missense_variant,p.Val43Ala,ENST00000583371,;ELAC2,upstream_gene_variant,,ENST00000584650,;ELAC2,upstream_gene_variant,,ENST00000446899,;ELAC2,non_coding_transcript_exon_variant,,ENST00000609345,;ELAC2,non_coding_transcript_exon_variant,,ENST00000484122,;							MODERATE	410/2481	V137A	RNZ2_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000337445		CCDS11164.1			1	
TENM3	0	LGGM	GRCh37	4	183676163	183676163	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	110	8	.	.	ENST00000511685.1:c.4643G>T	p.Ser1548Ile	p.S1548I	ENST00000511685		1548	aGc/aTc	0	1	1	UPI00006C0820	0	NA	ENST00000511685		ENSG00000218336	29944		118	2.125		HGNC	p.S1548I	COSM1053553	TENM3		SNV			1			1	ENST00000511685	protein_coding	getma.org/?cm=var&var=hg19,4,183676163,G,T&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF10,Superfamily_domains:SSF50978		S/I		T	medium	4766/10896		getma.org/?cm=msa&ty=f&p=TEN3_HUMAN&rb=1511&re=1710&var=S1548I	deleterious(0.02)	G3CAS9_HUMAN,D6RGC5_HUMAN			YES	TENM3,missense_variant,p.Ser1548Ile,ENST00000511685,;TENM3,missense_variant,p.Ser1548Ile,ENST00000406950,NM_001080477.1;TENM3,non_coding_transcript_exon_variant,,ENST00000502950,;					1		MODERATE	4643/8100	S1548I	TEN3_HUMAN			Transcript		benign(0.029)	.	ENSP00000424226		CCDS47165.1			1	
KEAP1	0	LGGM	GRCh37	19	10600336	10600336	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	8	.	.	ENST00000171111.5:c.1519C>T	p.Arg507Ter	p.R507*	ENST00000171111	NM_203500.1	507	Cga/Tga	0	1	1	UPI000007139C	0	NA	ENST00000171111		ENSG00000079999	23177		28	0		HGNC	p.R507X	rs751088754	KEAP1		SNV							ENST00000171111	protein_coding	getma.org/?cm=var&var=hg19,19,10600336,G,A&fts=all		hmmpanther:PTHR24412:SF162,hmmpanther:PTHR24412,Pfam_domain:PF01344,Gene3D:1k3iA02,PIRSF_domain:PIRSF037037,SMART_domains:SM00612,Superfamily_domains:0052715		R/*		A	NA	2067/2955	1.50E-05	NA		K7ESE0_HUMAN,K7EJD8_HUMAN,K7EJ49_HUMAN			YES	KEAP1,stop_gained,p.Arg507Ter,ENST00000171111,NM_203500.1;KEAP1,stop_gained,p.Arg507Ter,ENST00000393623,NM_012289.3;KEAP1,stop_gained,p.Arg114Ter,ENST00000592478,;KEAP1,downstream_gene_variant,,ENST00000591419,;KEAP1,downstream_gene_variant,,ENST00000592055,;CTC-429L19.3,downstream_gene_variant,,ENST00000592671,;KEAP1,downstream_gene_variant,,ENST00000588024,;KEAP1,intron_variant,,ENST00000590593,;KEAP1,downstream_gene_variant,,ENST00000585845,;KEAP1,upstream_gene_variant,,ENST00000590237,;							HIGH	1519/1875	R507*	KEAP1_HUMAN			Transcript			.	ENSP00000171111	8.24E-06	CCDS12239.1			1	
PRRX1	0	LGGM	GRCh37	1	170695475	170695475	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	8	.	.	ENST00000239461.6:c.532C>A	p.Pro178Thr	p.P178T	ENST00000239461	NM_022716.2	178	Ccc/Acc	0	1	1	UPI0000131D11	0	NA	ENST00000239461		ENSG00000116132	9142		51	2.045		HGNC	p.P178T		PRRX1		SNV			1				ENST00000367760	protein_coding	getma.org/?cm=var&var=hg19,1,170695475,C,A&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF300		P/T		A	medium	845/4284		getma.org/?cm=msa&ty=f&p=PRRX1_HUMAN&rb=152&re=218&var=P178T	deleterious(0)				YES	PRRX1,missense_variant,p.Pro178Thr,ENST00000239461,NM_022716.2;PRRX1,missense_variant,p.Pro178Thr,ENST00000497230,;PRRX1,missense_variant,p.Pro178Thr,ENST00000367760,NM_006902.3;PRRX1,non_coding_transcript_exon_variant,,ENST00000476867,;PRRX1,non_coding_transcript_exon_variant,,ENST00000495280,;PRRX1,upstream_gene_variant,,ENST00000496573,;PRRX1,upstream_gene_variant,,ENST00000485529,;							MODERATE	532/738	P178T	PRRX1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000239461		CCDS1290.1			1	
SCMH1	0	LGGM	GRCh37	1	41618282	41618282	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	8	.	.	ENST00000402904.2:c.65G>A	p.Gly22Glu	p.G22E	ENST00000402904	NM_001031694.2	22	gGg/gAg	0	1		UPI000006FD9B	0	getma.org/pdb.php?prot=SCMH1_HUMAN&from=1&to=61&var=G22E	ENST00000326197		ENSG00000010803	19003		29	1.15		HGNC	p.G22E		SCMH1		SNV							ENST00000326197	protein_coding	getma.org/?cm=var&var=hg19,1,41618282,C,T&fts=all		hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF68		G/E		T	low	365/3275		getma.org/?cm=msa&ty=f&p=SCMH1_HUMAN&rb=1&re=61&var=G22E	tolerated_low_confidence(0.29)					SCMH1,missense_variant,p.Gly22Glu,ENST00000402904,NM_001031694.2;SCMH1,missense_variant,p.Gly2Glu,ENST00000397174,;SCMH1,missense_variant,p.Gly22Glu,ENST00000326197,;SCMH1,intron_variant,,ENST00000372596,NM_001172218.1;SCMH1,intron_variant,,ENST00000372597,NM_012236.3,NM_001172220.1;SCMH1,intron_variant,,ENST00000372595,NM_001172221.1;SCMH1,intron_variant,,ENST00000397171,;SCMH1,intron_variant,,ENST00000361705,;SCMH1,intron_variant,,ENST00000337495,NM_001172219.1;SCMH1,intron_variant,,ENST00000361191,;SCMH1,intron_variant,,ENST00000456518,NM_001172222.1;							MODERATE	65/1983	G22E	SCMH1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000318094		CCDS30688.1			1	
HMCN1	0	LGGM	GRCh37	1	186088895	186088895	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	8	.	.	ENST00000271588.4:c.11975C>T	p.Pro3992Leu	p.P3992L	ENST00000271588	NM_031935.2	3992	cCc/cTc	0	1	1	UPI0000458C0E	0	getma.org/pdb.php?prot=HMCN1_HUMAN&from=3988&to=4075&var=P3992L	ENST00000271588		ENSG00000143341	19194		49	0.24		HGNC	p.P3992L		HMCN1		SNV			1				ENST00000271588	protein_coding	getma.org/?cm=var&var=hg19,1,186088895,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR19897,hmmpanther:PTHR19897:SF158,Superfamily_domains:SSF48726,Superfamily_domains:SSF48726		P/L		T	neutral	12204/18208		getma.org/?cm=msa&ty=f&p=HMCN1_HUMAN&rb=3988&re=4075&var=P3992L					YES	HMCN1,missense_variant,p.Pro3992Leu,ENST00000271588,NM_031935.2;HMCN1,missense_variant,p.Pro3992Leu,ENST00000367492,;							MODERATE	11975/16908	P3992L	HMCN1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000271588		CCDS30956.1			1	
CCNF	0	LGGM	GRCh37	16	2487240	2487240	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	8	.	.	ENST00000397066.4:c.457A>T	p.Ile153Phe	p.I153F	ENST00000397066	NM_001761.2	153	Atc/Ttc	0	1	1	UPI0000127595	0	NA	ENST00000397066		ENSG00000162063	1591		22	1.735		HGNC	p.I153F		CCNF		SNV							ENST00000397066	protein_coding	getma.org/?cm=var&var=hg19,16,2487240,A,T&fts=all		hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF183		I/F		T	low	545/4283		getma.org/?cm=msa&ty=f&p=CCNF_HUMAN&rb=72&re=271&var=I153F	tolerated(0.08)				YES	CCNF,missense_variant,p.Ile153Phe,ENST00000397066,NM_001761.2;CCNF,3_prime_UTR_variant,,ENST00000293968,;CCNF,non_coding_transcript_exon_variant,,ENST00000564333,;CCNF,downstream_gene_variant,,ENST00000569093,;							MODERATE	457/2361	I153F	CCNF_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000380256		CCDS10467.1			1	
NIN	0	LGGM	GRCh37	14	51225010	51225010	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	8	.	.	ENST00000382041.3:c.2738A>T	p.Gln913Leu	p.Q913L	ENST00000382041	NM_016350.4	913	cAg/cTg	0	1	1	UPI0000DBEF14	0	NA	ENST00000382041		ENSG00000100503	14906		62	0		HGNC	p.Q913L		NIN		SNV			1				ENST00000382041	protein_coding	getma.org/?cm=var&var=hg19,14,51225010,T,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18905,hmmpanther:PTHR18905:SF11,Low_complexity_(Seg):seg		Q/L		A	neutral	2929/6496		getma.org/?cm=msa&ty=f&p=NIN_HUMAN&rb=621&re=2088&var=Q913L	deleterious(0)	H7C162_HUMAN,E9PJH9_HUMAN			YES	NIN,missense_variant,p.Gln913Leu,ENST00000245441,NM_020921.3;NIN,missense_variant,p.Gln913Leu,ENST00000530997,;NIN,missense_variant,p.Gln913Leu,ENST00000453196,NM_182944.2;NIN,missense_variant,p.Gln913Leu,ENST00000324330,;NIN,missense_variant,p.Gln913Leu,ENST00000382041,NM_016350.4,NM_182946.1;NIN,missense_variant,p.Gln404Leu,ENST00000530853,;NIN,missense_variant,p.Gln404Leu,ENST00000389869,;NIN,intron_variant,,ENST00000389868,;NIN,intron_variant,,ENST00000382043,;NIN,missense_variant,p.Gln913Leu,ENST00000476352,;							MODERATE	2738/6273	Q913L	NIN_HUMAN			Transcript		benign(0.093)	.	ENSP00000371472		CCDS32079.1			1	
ZNF609	0	LGGM	GRCh37	15	64967806	64967806	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	8	.	.	ENST00000326648.3:c.2753G>A	p.Gly918Glu	p.G918E	ENST00000326648	NM_015042.1	918	gGa/gAa	0	1	1	UPI00001D7783	0	NA	ENST00000326648		ENSG00000180357	29003		52	0.895		HGNC	p.G918E		ZNF609		SNV							ENST00000326648	protein_coding	getma.org/?cm=var&var=hg19,15,64967806,G,A&fts=all		hmmpanther:PTHR21564,hmmpanther:PTHR21564:SF3		G/E		A	low	2881/8743		getma.org/?cm=msa&ty=f&p=ZN609_HUMAN&rb=540&re=1409&var=G918E	tolerated(0.15)				YES	ZNF609,missense_variant,p.Gly918Glu,ENST00000326648,NM_015042.1;RNU6-549P,downstream_gene_variant,,ENST00000384433,;ZNF609,downstream_gene_variant,,ENST00000559364,;							MODERATE	2753/4236	G918E	ZN609_HUMAN			Transcript		benign(0.047)	.	ENSP00000316527		CCDS32270.1			1	
FLNC	0	LGGM	GRCh37	7	128483553	128483553	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	8	.	.	ENST00000325888.8:c.2733G>T	p.Lys911Asn	p.K911N	ENST00000325888	NM_001458.4	911	aaG/aaT	0	1	1	UPI000006DE6D	0	getma.org/pdb.php?prot=FLNC_HUMAN&from=864&to=957&var=K911N	ENST00000325888		ENSG00000128591	3756		32	2.185		HGNC	p.K911N		FLNC		SNV			1				ENST00000325888	protein_coding	getma.org/?cm=var&var=hg19,7,128483553,G,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00630,PROSITE_profiles:PS50194,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF173,SMART_domains:SM00557,Superfamily_domains:SSF81296		K/N		T	medium	2994/9188		getma.org/?cm=msa&ty=f&p=FLNC_HUMAN&rb=864&re=957&var=K911N	tolerated(0.08)	Q59H94_HUMAN,B3KM41_HUMAN			YES	FLNC,missense_variant,p.Lys911Asn,ENST00000325888,NM_001458.4;FLNC,missense_variant,p.Lys911Asn,ENST00000346177,NM_001127487.1;FLNC,downstream_gene_variant,,ENST00000388853,;							MODERATE	2733/8178	K911N	FLNC_HUMAN			Transcript		possibly_damaging(0.579)	.	ENSP00000327145		CCDS43644.1			1	
BCL11A	0	LGGM	GRCh37	2	60688963	60688963	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	8	.	.	ENST00000335712.6:c.1084C>T	p.Pro362Ser	p.P362S	ENST00000335712	NM_022893.3	362	Cct/Tct	0	1	1	UPI000013DC00	0	NA	ENST00000335712		ENSG00000119866	13221		23	1.24		HGNC	p.P362S	COSM3582423,COSM3582424	BCL11A		SNV			1			1,1	ENST00000335712	protein_coding	getma.org/?cm=var&var=hg19,2,60688963,G,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF43,Low_complexity_(Seg):seg		P/S		A	low	1312/5942		getma.org/?cm=msa&ty=f&p=BC11A_HUMAN&rb=274&re=390&var=P362S	deleterious(0.03)	D6W5D9_HUMAN,Q53TS1_HUMAN,Q53TE8_HUMAN			YES	BCL11A,missense_variant,p.Pro362Ser,ENST00000335712,NM_022893.3;BCL11A,missense_variant,p.Pro362Ser,ENST00000356842,NM_018014.3;BCL11A,missense_variant,p.Pro328Ser,ENST00000358510,;BCL11A,missense_variant,p.Pro328Ser,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,;					1,1		MODERATE	1084/2508	P362S	BC11A_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000338774		CCDS1862.1			1	
ERBB3	0	LGGM	GRCh37	12	56495837	56495837	+	stop_lost	Nonstop_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	122	8	.	.	ENST00000267101.3:c.4027T>C	p.Ter1343GlnextTer60	p.*1343Qext*60	ENST00000267101	NM_001982.3	1343	Taa/Caa	0	1	1	UPI000012A113	0		ENST00000267101		ENSG00000065361	3431		130			HGNC	p.X700Q		ERBB3		SNV			1				ENST00000450146	protein_coding					*/Q		C		4467/5919				Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN			YES	ERBB3,stop_lost,p.Ter1343GlnextTer60,ENST00000267101,NM_001982.3;ERBB3,stop_lost,p.Ter1284GlnextTer60,ENST00000415288,;ERBB3,stop_lost,p.Ter463GlnextTer60,ENST00000549832,;ERBB3,stop_lost,p.Ter584GlnextTer60,ENST00000553131,;ERBB3,stop_lost,p.Ter650GlnextTer60,ENST00000550070,;ERBB3,stop_lost,p.Ter700GlnextTer60,ENST00000450146,;RP11-603J24.9,intron_variant,,ENST00000548861,;PA2G4,upstream_gene_variant,,ENST00000303305,NM_006191.2;PA2G4,upstream_gene_variant,,ENST00000552766,;PA2G4,upstream_gene_variant,,ENST00000551061,;PA2G4,upstream_gene_variant,,ENST00000553057,;RP11-603J24.17,downstream_gene_variant,,ENST00000548595,;ERBB3,3_prime_UTR_variant,,ENST00000551085,;ERBB3,3_prime_UTR_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000548709,;PA2G4,upstream_gene_variant,,ENST00000550166,;ERBB3,downstream_gene_variant,,ENST00000552691,;							HIGH	4027/4029		ERBB3_HUMAN			Transcript			.	ENSP00000267101		CCDS31833.1			1	
CD1A	0	LGGM	GRCh37	1	158226785	158226785	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	8	.	.	ENST00000289429.5:c.814G>A	p.Glu272Lys	p.E272K	ENST00000289429	NM_001763.2	272	Gag/Aag	0	1	1	UPI0000161A54	0	getma.org/pdb.php?prot=CD1A_HUMAN&from=210&to=291&var=E272K	ENST00000289429		ENSG00000158477	1634		37	2.82		HGNC	p.E272K		CD1A		SNV							ENST00000289429	protein_coding	getma.org/?cm=var&var=hg19,1,158226785,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07654,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,SMART_domains:SM00407,Superfamily_domains:SSF48726		E/K		A	medium	1347/2096		getma.org/?cm=msa&ty=f&p=CD1A_HUMAN&rb=210&re=291&var=E272K	deleterious(0.02)				YES	CD1A,missense_variant,p.Glu272Lys,ENST00000289429,NM_001763.2;							MODERATE	814/984	E272K	CD1A_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000289429		CCDS1174.1			1	
ZNF14	0	LGGM	GRCh37	19	19825253	19825253	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	8	.	.	ENST00000344099.3:c.47A>C	p.Glu16Ala	p.E16A	ENST00000344099	NM_021030.2	16	gAg/gCg	0	1	1	UPI00001E058E	0	getma.org/pdb.php?prot=ZNF14_HUMAN&from=4&to=44&var=E16A	ENST00000344099		ENSG00000105708	12924		53	3.52		HGNC	p.E16A		ZNF14		SNV							ENST00000344099	protein_coding	getma.org/?cm=var&var=hg19,19,19825253,T,G&fts=all		Superfamily_domains:0044637,Pfam_domain:PF01352,PROSITE_profiles:PS50805,hmmpanther:PTHR24379,hmmpanther:PTHR24379:SF21,SMART_domains:SM00349		E/A		G	high	186/2949		getma.org/?cm=msa&ty=f&p=ZNF14_HUMAN&rb=4&re=44&var=E16A	deleterious(0)				YES	ZNF14,missense_variant,p.Glu16Ala,ENST00000344099,NM_021030.2;CTC-412M14.5,downstream_gene_variant,,ENST00000604034,;							MODERATE	47/1929	E16A	ZNF14_HUMAN			Transcript		possibly_damaging(0.748)	.	ENSP00000340514		CCDS12409.1			1	
PARP14	0	LGGM	GRCh37	3	122432420	122432420	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	107	8	.	.	ENST00000474629.2:c.3769G>T	p.Gly1257Trp	p.G1257W	ENST00000474629	NM_017554.2	1257	Ggg/Tgg	0	1	1	UPI00015A20AB	0	getma.org/pdb.php?prot=PAR14_HUMAN&from=1245&to=1347&var=G1257W	ENST00000474629		ENSG00000173193	29232		115	3.82		HGNC	p.G1098W		PARP14		SNV							ENST00000460683	protein_coding	getma.org/?cm=var&var=hg19,3,122432420,G,T&fts=all		PROSITE_profiles:PS51154,hmmpanther:PTHR14453:SF53,hmmpanther:PTHR14453,Pfam_domain:PF01661,Gene3D:3.40.220.10,SMART_domains:SM00506,Superfamily_domains:SSF52949		G/W		T	high	4035/7915		getma.org/?cm=msa&ty=f&p=PAR14_HUMAN&rb=1245&re=1347&var=G1257W	deleterious(0)				YES	PARP14,missense_variant,p.Gly1257Trp,ENST00000474629,NM_017554.2;PARP14,upstream_gene_variant,,ENST00000475640,;PARP14,missense_variant,p.Gly1098Trp,ENST00000460683,;PARP14,splice_region_variant,,ENST00000474669,;							MODERATE	3769/5406	G1257W	PAR14_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000418194		CCDS46894.1			1	
TCEB3	0	LGGM	GRCh37	1	24077581	24077581	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	8	.	.	ENST00000418390.2:c.564A>G	p.Ser188=	p.S188=	ENST00000418390	NM_003198.2	188	tcA/tcG	0	1	1	UPI000181BA17	0		ENST00000418390		ENSG00000011007	11620		50			HGNC	p.S188S		TCEB3		SNV							ENST00000418390	protein_coding			hmmpanther:PTHR15141:SF37,hmmpanther:PTHR15141		S		G		835/5154							YES	TCEB3,synonymous_variant,p.=,ENST00000418390,NM_003198.2;TCEB3,synonymous_variant,p.=,ENST00000609199,;TCEB3,downstream_gene_variant,,ENST00000487554,;							LOW	564/2397		ELOA1_HUMAN			Transcript			.	ENSP00000395574		CCDS239.2			1	
NPY4R	0	LGGM	GRCh37	10	47087324	47087324	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	8	.	.	ENST00000374312.1:c.541G>T	p.Glu181Ter	p.E181*	ENST00000374312	NM_005972.5	181	Gag/Tag	0	1	1	UPI0000050415	0	NA	ENST00000374312		ENSG00000204174	9329		55	0		HGNC	p.E181X		NPY4R		SNV							ENST00000374312	protein_coding	getma.org/?cm=var&var=hg19,10,47087324,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR24242:SF185,hmmpanther:PTHR24242,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR01015		E/*		T	NA	960/1956		NA					YES	NPY4R,stop_gained,p.Glu181Ter,ENST00000374312,NM_005972.5;NPY4R,stop_gained,p.Glu181Ter,ENST00000395716,;LINC00842,intron_variant,,ENST00000503031,;							HIGH	541/1128	E181*	NPY4R_HUMAN			Transcript			.	ENSP00000363431		CCDS31193.1			1	
TRIM29	0	LGGM	GRCh37	11	119998075	119998075	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	8	.	.	ENST00000341846.5:c.1103A>T	p.His368Leu	p.H368L	ENST00000341846	NM_012101.3	368	cAt/cTt	0	1	1	UPI0000073FDE	0	NA	ENST00000341846		ENSG00000137699	17274		33	0		HGNC	p.H368L		TRIM29		SNV							ENST00000341846	protein_coding	getma.org/?cm=var&var=hg19,11,119998075,T,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF240		H/L		A	neutral	1525/3328		getma.org/?cm=msa&ty=f&p=TRI29_HUMAN&rb=261&re=460&var=H368L	tolerated(0.56)	E9PM74_HUMAN,E9PLI4_HUMAN,E9PJ94_HUMAN,E9PIQ2_HUMAN,E9PI31_HUMAN,B7Z5V8_HUMAN			YES	TRIM29,missense_variant,p.His368Leu,ENST00000341846,NM_012101.3;TRIM29,missense_variant,p.His101Leu,ENST00000541857,;TRIM29,missense_variant,p.His107Leu,ENST00000529044,;TRIM29,upstream_gene_variant,,ENST00000528870,;TRIM29,upstream_gene_variant,,ENST00000524816,;TRIM29,upstream_gene_variant,,ENST00000525327,;TRIM29,upstream_gene_variant,,ENST00000533302,;TRIM29,3_prime_UTR_variant,,ENST00000475051,;TRIM29,upstream_gene_variant,,ENST00000530470,;TRIM29,downstream_gene_variant,,ENST00000532195,;TRIM29,upstream_gene_variant,,ENST00000531555,;							MODERATE	1103/1767	H368L	TRI29_HUMAN			Transcript		benign(0.01)	.	ENSP00000343129		CCDS8428.1			1	
KDM2A	0	LGGM	GRCh37	11	67017721	67017721	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	8	.	.	ENST00000529006.2:c.2220C>T	p.Ser740=	p.S740=	ENST00000529006	NM_012308.2	740	tcC/tcT	0	1	1	UPI00001678A9	0		ENST00000529006		ENSG00000173120	13606		40			HGNC	p.S740S		KDM2A		SNV							ENST00000398645	protein_coding			hmmpanther:PTHR23123,hmmpanther:PTHR23123:SF3		S		T		2666/6967				I3VM54_HUMAN,I3VM53_HUMAN			YES	KDM2A,synonymous_variant,p.=,ENST00000529006,NM_012308.2;KDM2A,synonymous_variant,p.=,ENST00000398645,;KDM2A,synonymous_variant,p.=,ENST00000530342,NM_001256405.1;KDM2A,synonymous_variant,p.=,ENST00000308783,;KDM2A,non_coding_transcript_exon_variant,,ENST00000526258,;KDM2A,non_coding_transcript_exon_variant,,ENST00000531696,;KDM2A,upstream_gene_variant,,ENST00000524657,;KDM2A,downstream_gene_variant,,ENST00000525041,;KDM2A,downstream_gene_variant,,ENST00000534486,;KDM2A,downstream_gene_variant,,ENST00000529124,;							LOW	2220/3489		KDM2A_HUMAN			Transcript			.	ENSP00000432786		CCDS44657.1			1	
LRRC7	0	LGGM	GRCh37	1	70226070	70226070	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	8	.	.	ENST00000035383.5:c.183A>T	p.Leu61=	p.L61=	ENST00000035383	NM_020794.2	61	ctA/ctT	0	1	1	UPI000006F29B	0		ENST00000035383		ENSG00000033122	18531		23			HGNC	p.L61L		LRRC7		SNV							ENST00000035383	protein_coding			PROSITE_profiles:PS51450,hmmpanther:PTHR23155:SF459,hmmpanther:PTHR23155,Gene3D:3.80.10.10,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058		L		T		213/5000							YES	LRRC7,synonymous_variant,p.=,ENST00000310961,;LRRC7,synonymous_variant,p.=,ENST00000035383,NM_020794.2;LRRC7,synonymous_variant,p.=,ENST00000370958,;LRRC7,5_prime_UTR_variant,,ENST00000415775,;							LOW	183/4614		LRRC7_HUMAN			Transcript			.	ENSP00000035383		CCDS645.1			1	
VWA3B	0	LGGM	GRCh37	2	98907038	98907038	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	8	.	.	ENST00000477737.1:c.3110G>A	p.Gly1037Glu	p.G1037E	ENST00000477737	NM_144992.4	1037	gGa/gAa	0	1	1	UPI0000E9B173	0	NA	ENST00000477737		ENSG00000168658	28385		50	1.845		HGNC	p.G1037E		VWA3B		SNV							ENST00000477737	protein_coding	getma.org/?cm=var&var=hg19,2,98907038,G,A&fts=all		Pfam_domain:PF15057,hmmpanther:PTHR10338,hmmpanther:PTHR10338:SF104		G/E		A	low	3314/4454		getma.org/?cm=msa&ty=f&p=VWA3B_HUMAN&rb=859&re=1058&var=G1037E	deleterious(0)	Q53RD3_HUMAN			YES	VWA3B,missense_variant,p.Gly1037Glu,ENST00000477737,NM_144992.4;VWA3B,missense_variant,p.Gly448Glu,ENST00000473149,;VWA3B,non_coding_transcript_exon_variant,,ENST00000490947,;VWA3B,3_prime_UTR_variant,,ENST00000432242,;VWA3B,3_prime_UTR_variant,,ENST00000495571,;VWA3B,3_prime_UTR_variant,,ENST00000489630,;VWA3B,non_coding_transcript_exon_variant,,ENST00000409460,;							MODERATE	3110/3885	G1037E	VWA3B_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000417955		CCDS42718.1			1	
TSPYL1	0	LGGM	GRCh37	6	116600682	116600682	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	8	.	.	ENST00000368608.3:c.312C>T	p.Pro104=	p.P104=	ENST00000368608	NM_003309.3	104	ccC/ccT	0	1	1	UPI000006EE16	0		ENST00000368608		ENSG00000189241	12382		31			HGNC	p.P104P	rs778733656	TSPYL1	0.000121	SNV			1				ENST00000368608	protein_coding			hmmpanther:PTHR11875:SF57,hmmpanther:PTHR11875		P		A		385/3326							YES	TSPYL1,synonymous_variant,p.=,ENST00000368608,NM_003309.3;DSE,intron_variant,,ENST00000430252,;DSE,intron_variant,,ENST00000540275,;DSE,upstream_gene_variant,,ENST00000452085,NM_001080976.1;RP1-93H18.1,upstream_gene_variant,,ENST00000449314,;RP1-93H18.1,upstream_gene_variant,,ENST00000453463,;DSE,non_coding_transcript_exon_variant,,ENST00000607094,;							LOW	312/1314		TSYL1_HUMAN			Transcript			.	ENSP00000357597	1.65E-05	CCDS34518.1			1	
SBNO1	0	LGGM	GRCh37	12	123806189	123806189	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	8	.	.	ENST00000420886.2:c.2216C>T	p.Ala739Val	p.A739V	ENST00000420886	NM_001167856.1	739	gCc/gTc	0	1	1	UPI00001FB922	0	NA	ENST00000420886		ENSG00000139697	22973		39	0		HGNC	p.A738V		SBNO1		SNV							ENST00000267176	protein_coding	getma.org/?cm=var&var=hg19,12,123806189,G,A&fts=all		hmmpanther:PTHR12706,hmmpanther:PTHR12706:SF8,Low_complexity_(Seg):seg		A/V		A	neutral	2216/10981		getma.org/?cm=msa&ty=f&p=SBNO1_HUMAN&rb=562&re=761&var=A739V	tolerated(0.29)	Q9NVJ3_HUMAN			YES	SBNO1,missense_variant,p.Ala739Val,ENST00000420886,NM_001167856.1;SBNO1,missense_variant,p.Ala738Val,ENST00000267176,NM_018183.3;SBNO1,missense_variant,p.Ala738Val,ENST00000602750,;SBNO1,missense_variant,p.Ala739Val,ENST00000602398,;							MODERATE	2216/4182	A739V	SBNO1_HUMAN			Transcript		benign(0.008)	.	ENSP00000387361		CCDS53844.1			1	
PDS5B	0	LGGM	GRCh37	13	33316783	33316783	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	8	.	.	ENST00000315596.10:c.2530A>T	p.Ser844Cys	p.S844C	ENST00000315596	NM_015032.3	844	Agt/Tgt	0	1	1	UPI000006D4A9	0	NA	ENST00000315596		ENSG00000083642	20418		38	1.61		HGNC	p.S844C		PDS5B		SNV							ENST00000450460	protein_coding	getma.org/?cm=var&var=hg19,13,33316783,A,T&fts=all		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1		S/C		T	low	2716/7497		getma.org/?cm=msa&ty=f&p=PDS5B_HUMAN&rb=1&re=1137&var=S844C	deleterious(0.01)				YES	PDS5B,missense_variant,p.Ser844Cys,ENST00000315596,NM_015032.3;PDS5B,missense_variant,p.Ser844Cys,ENST00000450460,;							MODERATE	2530/4344	S844C	PDS5B_HUMAN			Transcript		benign(0.283)	.	ENSP00000313851		CCDS41878.1			1	
SP4	0	LGGM	GRCh37	7	21469712	21469712	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	8	.	.	ENST00000222584.3:c.929C>T	p.Ser310Phe	p.S310F	ENST00000222584	NM_003112.3	310	tCt/tTt	0	1	1	UPI000013C807	0	NA	ENST00000222584		ENSG00000105866	11209		51	1.24		HGNC	p.S310F	COSM3637260	SP4		SNV						1	ENST00000222584	protein_coding	getma.org/?cm=var&var=hg19,7,21469712,C,T&fts=all		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF5,Low_complexity_(Seg):seg		S/F		T	low	1147/6126		getma.org/?cm=msa&ty=f&p=SP4_HUMAN&rb=1&re=507&var=S310F	deleterious(0.01)	Q32M51_HUMAN			YES	SP4,missense_variant,p.Ser310Phe,ENST00000222584,NM_003112.3;SP4,intron_variant,,ENST00000432066,;SP4,intron_variant,,ENST00000448246,;SP4,downstream_gene_variant,,ENST00000440636,;					1		MODERATE	929/2355	S310F	SP4_HUMAN			Transcript		benign(0.352)	.	ENSP00000222584		CCDS5373.1			1	
TG	0	LGGM	GRCh37	8	134042066	134042066	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	8	.	.	ENST00000220616.4:c.7037G>A	p.Gly2346Glu	p.G2346E	ENST00000220616	NM_003235.4	2346	gGg/gAg	0	1	1	UPI000013C79F	0	getma.org/pdb.php?prot=THYG_HUMAN&from=2186&to=2718&var=G2346E	ENST00000220616		ENSG00000042832	11764		26	1.925		HGNC	p.G479E		TG		SNV			1				ENST00000519543	protein_coding	getma.org/?cm=var&var=hg19,8,134042066,G,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF00135,PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142,Low_complexity_(Seg):seg,Superfamily_domains:SSF53474		G/E		A	medium	7077/8450		getma.org/?cm=msa&ty=f&p=THYG_HUMAN&rb=2186&re=2718&var=G2346E	deleterious(0.04)	Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,missense_variant,p.Gly2346Glu,ENST00000220616,NM_003235.4;TG,missense_variant,p.Gly2289Glu,ENST00000377869,;TG,missense_variant,p.Gly802Glu,ENST00000519178,;TG,missense_variant,p.Gly716Glu,ENST00000542445,;TG,missense_variant,p.Gly479Glu,ENST00000519543,;TG,missense_variant,p.Gly142Glu,ENST00000518108,;TG,splice_region_variant,,ENST00000523756,;							MODERATE	7037/8307	G2346E	THYG_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000220616		CCDS34944.1			1	
EIF3L	0	LGGM	GRCh37	22	38266243	38266243	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	8	.	.	ENST00000412331.2:c.640T>C	p.Phe214Leu	p.F214L	ENST00000412331	NM_016091.3	214	Ttt/Ctt	0	1	1	UPI00000012D7	0	NA	ENST00000412331		ENSG00000100129	18138		53	0.44		HGNC	p.F214L		EIF3L		SNV							ENST00000412331	protein_coding	getma.org/?cm=var&var=hg19,22,38266243,T,C&fts=all		HAMAP:MF_03011,hmmpanther:PTHR13242,Pfam_domain:PF10255		F/L		C	neutral	1222/3220		getma.org/?cm=msa&ty=f&p=EIF3L_HUMAN&rb=151&re=551&var=F214L	tolerated(1)	Q7Z5X3_HUMAN,C9JHP4_HUMAN,B3KNG0_HUMAN,B0QY89_HUMAN			YES	EIF3L,missense_variant,p.Phe214Leu,ENST00000412331,NM_016091.3;EIF3L,missense_variant,p.Phe116Leu,ENST00000406934,;EIF3L,missense_variant,p.Phe166Leu,ENST00000381683,NM_001242923.1;EIF3L,non_coding_transcript_exon_variant,,ENST00000476955,;EIF3L,non_coding_transcript_exon_variant,,ENST00000464790,;EIF3L,3_prime_UTR_variant,,ENST00000439997,;EIF3L,non_coding_transcript_exon_variant,,ENST00000477256,;EIF3L,non_coding_transcript_exon_variant,,ENST00000482600,;EIF3L,downstream_gene_variant,,ENST00000436452,;							MODERATE	640/1695	F214L	EIF3L_HUMAN			Transcript		benign(0.006)	.	ENSP00000416892		CCDS13960.1			1	
VASH2	0	LGGM	GRCh37	1	213161912	213161912	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	8	.	.	ENST00000366965.2:c.922C>T	p.Gln308Ter	p.Q308*	ENST00000366965	NM_024749.3	308	Caa/Taa	0	1		UPI0000205E4B	0	NA	ENST00000517399		ENSG00000143494	25723		33	0		HGNC	p.Q287X		VASH2		SNV							ENST00000366966	protein_coding	getma.org/?cm=var&var=hg19,1,213161912,C,T&fts=all		hmmpanther:PTHR15750,hmmpanther:PTHR15750:SF4		Q/*		T	NA	1054/1068		NA		C9JY36_HUMAN,B4DYZ5_HUMAN				VASH2,stop_gained,p.Gln287Ter,ENST00000366968,NM_001136474.1;VASH2,stop_gained,p.Gln308Ter,ENST00000366965,NM_024749.3;VASH2,stop_gained,p.Gln287Ter,ENST00000366966,;VASH2,stop_gained,p.Gln248Ter,ENST00000366967,NM_001136475.1;VASH2,stop_gained,p.Gln352Ter,ENST00000517399,;ANGEL2,downstream_gene_variant,,ENST00000366962,NM_144567.3;ANGEL2,downstream_gene_variant,,ENST00000360506,;VASH2,upstream_gene_variant,,ENST00000519906,;							HIGH	1054/1068	Q248*	VASH2_HUMAN			Transcript			.	ENSP00000428324					1	
WHSC1	0	LGGM	GRCh37	4	1918644	1918644	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	8	.	.	ENST00000382891.5:c.807C>T	p.Asp269=	p.D269=	ENST00000382891	NM_133335.3	269	gaC/gaT	0	1		UPI0000073F57	0		ENST00000382891		ENSG00000109685	12766		52			HGNC	p.D269D	rs767961646	WHSC1	0.000121	SNV			1	9.67E-05			ENST00000312087	protein_coding			PROSITE_profiles:PS50812,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF293,Gene3D:2.30.30.160,Pfam_domain:PF00855,SMART_domains:SM00293,Superfamily_domains:SSF63748		D		T		946/7534	4.50E-05			D6RIS1_HUMAN,D6RFE7_HUMAN,D6R9V2_HUMAN				WHSC1,synonymous_variant,p.=,ENST00000503128,;WHSC1,synonymous_variant,p.=,ENST00000398261,NM_133334.2;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.=,ENST00000420906,NM_007331.1;WHSC1,synonymous_variant,p.=,ENST00000508803,NM_001042424.2;WHSC1,synonymous_variant,p.=,ENST00000514045,;WHSC1,synonymous_variant,p.=,ENST00000509115,;WHSC1,downstream_gene_variant,,ENST00000436793,;WHSC1,synonymous_variant,p.=,ENST00000312087,;WHSC1,synonymous_variant,p.=,ENST00000353275,;WHSC1,3_prime_UTR_variant,,ENST00000512700,;WHSC1,non_coding_transcript_exon_variant,,ENST00000508355,;WHSC1,upstream_gene_variant,,ENST00000511904,;							LOW	807/4098		NSD2_HUMAN			Transcript			.	ENSP00000372347	4.94E-05	CCDS33940.1			1	
XIRP2	0	LGGM	GRCh37	2	168115679	168115679	+	3_prime_UTR_variant	3'UTR	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	8	.	.	ENST00000409195.1:c.*1352G>A		*451*	ENST00000409195	NM_152381.5			0	1	1	UPI0000E9BBED	0		ENST00000409195		ENSG00000163092	14303		51			HGNC	p.E875K		XIRP2		SNV							ENST00000409756	protein_coding							A		12091/12675				J3KNB1_HUMAN			YES	XIRP2,missense_variant,p.Glu908Lys,ENST00000409728,NM_001199143.1;XIRP2,missense_variant,p.Glu875Lys,ENST00000409043,NM_001079810.3;XIRP2,missense_variant,p.Glu875Lys,ENST00000409756,;XIRP2,missense_variant,p.Glu908Lys,ENST00000420519,;XIRP2,missense_variant,p.Glu653Lys,ENST00000409605,NM_001199145.1;XIRP2,3_prime_UTR_variant,,ENST00000409195,NM_152381.5;XIRP2,3_prime_UTR_variant,,ENST00000295237,;XIRP2,3_prime_UTR_variant,,ENST00000409273,NM_001199144.1;							MODIFIER	-/10650					Transcript			.	ENSP00000386840		CCDS42769.1			1	
PGM1	0	LGGM	GRCh37	1	64095701	64095701	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	8	.	.	ENST00000371083.4:c.552C>T	p.Asp184=	p.D184=	ENST00000371083	NM_001172818.1	184	gaC/gaT	0	1		UPI000000105F	0		ENST00000371084		ENSG00000079739	8905		52			HGNC	p.D184D		PGM1		SNV			1				ENST00000371083	protein_coding			Gene3D:3.40.120.10,hmmpanther:PTHR22573,hmmpanther:PTHR22573:SF37,Superfamily_domains:SSF53738		D		T		711/2472								PGM1,synonymous_variant,p.=,ENST00000371083,NM_001172818.1;PGM1,synonymous_variant,p.=,ENST00000371084,NM_002633.2;PGM1,5_prime_UTR_variant,,ENST00000540265,NM_001172819.1;							LOW	498/1689		PGM1_HUMAN			Transcript			.	ENSP00000360125		CCDS625.1			1	
FASTKD1	0	LGGM	GRCh37	2	170428484	170428484	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	8	.	.	ENST00000453153.2:c.56G>A	p.Arg19Lys	p.R19K	ENST00000453153	NM_024622.4	19	aGa/aAa	0	1	1	UPI000050BC4D	0	NA	ENST00000453153		ENSG00000138399	26150		43	2.47		HGNC	p.R19K		FASTKD1		SNV							ENST00000453153	protein_coding	getma.org/?cm=var&var=hg19,2,170428484,C,T&fts=all		hmmpanther:PTHR21228,hmmpanther:PTHR21228:SF29		R/K		T	medium	403/2967		getma.org/?cm=msa&ty=f&p=FAKD1_HUMAN&rb=1&re=200&var=R19K	deleterious(0.05)	D3DPC4_HUMAN,C9JTP4_HUMAN,C9JMM4_HUMAN			YES	FASTKD1,missense_variant,p.Arg19Lys,ENST00000453153,NM_024622.4;FASTKD1,missense_variant,p.Arg19Lys,ENST00000453929,NM_001281476.1;FASTKD1,missense_variant,p.Arg19Lys,ENST00000445210,;FASTKD1,missense_variant,p.Arg19Lys,ENST00000438035,;FASTKD1,upstream_gene_variant,,ENST00000417376,;							MODERATE	56/2544	R19K	FAKD1_HUMAN			Transcript		benign(0.036)	.	ENSP00000400513		CCDS33318.1			1	
TTN	0	LGGM	GRCh37	2	179642156	179642156	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	8	.	.	ENST00000589042.1:c.4636A>T	p.Thr1546Ser	p.T1546S	ENST00000589042	NM_001267550.1	1546	Act/Tct	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=1457&to=1547&var=T1546S	ENST00000591111		ENSG00000155657	12403		23	1.435		HGNC	p.T1546S		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179642156,T,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00409,Superfamily_domains:SSF48726		T/S		A	low	4861/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=1457&re=1547&var=T1546S		C9JQJ2_HUMAN				TTN,missense_variant,p.Thr1546Ser,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr1546Ser,ENST00000591111,;TTN,missense_variant,p.Thr1546Ser,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Thr1500Ser,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr1500Ser,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr1500Ser,ENST00000460472,NM_003319.4;TTN,missense_variant,p.Thr1546Ser,ENST00000360870,NM_133379.4;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;							MODERATE	4636/103053	T1546S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SIPA1L2	0	LGGM	GRCh37	1	232649655	232649655	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	8	.	.	ENST00000366630.1:c.1431A>T	p.Ile477=	p.I477=	ENST00000366630		477	atA/atT	0	1		UPI00001D7D6A	0		ENST00000262861		ENSG00000116991	23800		89			HGNC	p.I477I		SIPA1L2		SNV							ENST00000366630	protein_coding			Superfamily_domains:0043732,hmmpanther:PTHR15711,hmmpanther:PTHR15711:SF7		I		A		1658/6555								SIPA1L2,synonymous_variant,p.=,ENST00000366630,;SIPA1L2,synonymous_variant,p.=,ENST00000262861,NM_020808.3;							LOW	1431/5169		SI1L2_HUMAN			Transcript			.	ENSP00000262861		CCDS41474.1			1	
ZSCAN16	0	LGGM	GRCh37	6	28097571	28097571	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	8	.	.	ENST00000340487.4:c.890G>T	p.Cys297Phe	p.C297F	ENST00000340487	NM_025231.1	297	tGt/tTt	0	1	1	UPI000013A46E	0	getma.org/pdb.php?prot=ZSC16_HUMAN&from=278&to=302&var=C297F	ENST00000340487		ENSG00000196812	20813		33	4.135		HGNC	p.C297F		ZSCAN16		SNV							ENST00000340487	protein_coding	getma.org/?cm=var&var=hg19,6,28097571,G,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF52,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		C/F		T	high	1039/1328		getma.org/?cm=msa&ty=f&p=ZSC16_HUMAN&rb=258&re=322&var=C297F	deleterious(0)				YES	ZSCAN16,missense_variant,p.Cys297Phe,ENST00000340487,NM_025231.1;ZSCAN16-AS1,intron_variant,,ENST00000600652,;ZSCAN16-AS1,intron_variant,,ENST00000602810,;							MODERATE	890/1047	C297F	ZSC16_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000366527		CCDS4644.1			1	
GARIN3	0	LGGM	GRCh37	5	156590102	156590102	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	8	.	.	ENST00000302938.4:c.1174G>A	p.Gly392Arg	p.G392R	ENST00000302938	NM_130899.2	392	Gga/Aga	0	1	1	UPI000006F9DC	0	NA	ENST00000302938		ENSG00000170613	28397		34	1.79		HGNC	p.G392R		FAM71B		SNV							ENST00000302938	protein_coding	getma.org/?cm=var&var=hg19,5,156590102,C,T&fts=all		hmmpanther:PTHR22574,hmmpanther:PTHR22574:SF2		G/R		T	low	1270/2515		getma.org/?cm=msa&ty=f&p=FA71B_HUMAN&rb=352&re=491&var=G392R	tolerated(0.29)				YES	FAM71B,missense_variant,p.Gly392Arg,ENST00000302938,NM_130899.2;ITK,intron_variant,,ENST00000521769,;MED7,upstream_gene_variant,,ENST00000524289,;							MODERATE	1174/1818	G392R	FA71B_HUMAN			Transcript		benign(0.401)	.	ENSP00000305596		CCDS4335.1			1	
KIF23	0	LGGM	GRCh37	15	69714708	69714708	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	8	.	.	ENST00000260363.4:c.497A>G	p.Glu166Gly	p.E166G	ENST00000260363	NM_138555.3	166	gAg/gGg	0	1	1	UPI0000072141	0	getma.org/pdb.php?prot=KIF23_HUMAN&from=31&to=436&var=E166G	ENST00000260363		ENSG00000137807	6392		71	2.57		HGNC	p.E166G		KIF23		SNV			1				ENST00000352331	protein_coding	getma.org/?cm=var&var=hg19,15,69714708,A,G&fts=all		Pfam_domain:PF00225,PROSITE_profiles:PS50067,hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF88,SMART_domains:SM00129		E/G		G	medium	614/3610		getma.org/?cm=msa&ty=f&p=KIF23_HUMAN&rb=31&re=436&var=E166G	deleterious(0)				YES	KIF23,missense_variant,p.Glu166Gly,ENST00000260363,NM_138555.3,NM_001281301.1;KIF23,missense_variant,p.Glu166Gly,ENST00000559279,NM_004856.6;KIF23,missense_variant,p.Glu166Gly,ENST00000395392,;KIF23,missense_variant,p.Glu166Gly,ENST00000352331,;KIF23,upstream_gene_variant,,ENST00000558585,;KIF23,upstream_gene_variant,,ENST00000537891,;KIF23,upstream_gene_variant,,ENST00000559283,;KIF23,missense_variant,p.Glu166Gly,ENST00000558346,;KIF23,3_prime_UTR_variant,,ENST00000561089,;KIF23,upstream_gene_variant,,ENST00000559456,;KIF23,downstream_gene_variant,,ENST00000560042,;							MODERATE	497/2883	E166G	KIF23_HUMAN			Transcript		probably_damaging(0.93)	.	ENSP00000260363		CCDS32278.1			1	
DMXL1	0	LGGM	GRCh37	5	118556633	118556633	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	9	.	.	ENST00000311085.8:c.8073-2A>T		p.X2691_splice	ENST00000311085	NM_005509.4			0	1	1	UPI000013F0EC	0		ENST00000311085		ENSG00000172869	2937		42			HGNC	-		DMXL1		SNV							ENST00000311085	protein_coding							T		-/11072				F1T0K4_HUMAN,E7EMZ0_HUMAN			YES	DMXL1,splice_acceptor_variant,,ENST00000311085,NM_005509.4;DMXL1,splice_acceptor_variant,,ENST00000539542,;DMXL1,splice_acceptor_variant,,ENST00000505312,;DMXL1,splice_acceptor_variant,,ENST00000511622,;							HIGH	8073/9084		DMXL1_HUMAN			Transcript			.	ENSP00000309690		CCDS4125.1			1	
CTNND2	0	LGGM	GRCh37	5	10988222	10988222	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	9	.	.	ENST00000304623.8:c.3343+1G>A		p.X1115_splice	ENST00000304623	NM_001332.2			0	1	1	UPI000013E9AB	0		ENST00000304623		ENSG00000169862	2516		34			HGNC	-		CTNND2		SNV			1				ENST00000304623	protein_coding							T		-/5481				E7EPC8_HUMAN,D6RF55_HUMAN,D6RBA8_HUMAN,D6R9A8_HUMAN			YES	CTNND2,splice_donor_variant,,ENST00000304623,NM_001332.2,NM_001288716.1,NM_001288715.1;CTNND2,splice_donor_variant,,ENST00000359640,;CTNND2,splice_donor_variant,,ENST00000511377,;CTNND2,splice_donor_variant,,ENST00000458100,;CTNND2,splice_donor_variant,,ENST00000503622,;CTNND2,splice_donor_variant,,ENST00000495388,;CTNND2,intron_variant,,ENST00000506324,;CTNND2,splice_donor_variant,,ENST00000513588,;CTNND2,splice_donor_variant,,ENST00000504499,;							HIGH	3343/3678		CTND2_HUMAN			Transcript			.	ENSP00000307134		CCDS3881.1			1	
PER1	0	LGGM	GRCh37	17	8051061	8051061	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	5	9	.	.	ENST00000317276.4:c.1319G>A	p.Ser440Asn	p.S440N	ENST00000317276	NM_002616.2	440	aGc/aAc	0	1	1	UPI000013FFF5	0	getma.org/pdb.php?prot=PER1_HUMAN&from=371&to=459&var=S440N	ENST00000317276		ENSG00000179094	8845		14	2.71		HGNC	p.S440N		PER1		SNV							ENST00000582719	protein_coding	getma.org/?cm=var&var=hg19,17,8051061,C,T&fts=all		Gene3D:3.30.450.20,Pfam_domain:PF14598,hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8,Superfamily_domains:SSF55785		S/N		T	medium	1557/4707		getma.org/?cm=msa&ty=f&p=PER1_HUMAN&rb=371&re=459&var=S440N	deleterious(0)	J3QLQ5_HUMAN,A2I2P6_HUMAN			YES	PER1,missense_variant,p.Ser440Asn,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Ser420Asn,ENST00000581082,;PER1,missense_variant,p.Ser424Asn,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,missense_variant,p.Ser440Asn,ENST00000582719,;PER1,missense_variant,p.Ser440Asn,ENST00000581395,;PER1,non_coding_transcript_exon_variant,,ENST00000578223,;PER1,non_coding_transcript_exon_variant,,ENST00000579203,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,upstream_gene_variant,,ENST00000585095,;PER1,upstream_gene_variant,,ENST00000577424,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000579098,;							MODERATE	1319/3873	S440N	PER1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000314420		CCDS11131.1			1	
UHMK1	0	LGGM	GRCh37	1	162487899	162487899	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	9	.	.	ENST00000489294.1:c.1032A>T	p.Val344=	p.V344=	ENST00000489294	NM_175866.4	344	gtA/gtT	0	1	1	UPI000000DCCA	0		ENST00000489294		ENSG00000152332	19683		39			HGNC	p.V270V		UHMK1		SNV							ENST00000545294	protein_coding			Gene3D:3.30.70.330,PROSITE_profiles:PS50102,hmmpanther:PTHR23139,hmmpanther:PTHR23139:SF14,Low_complexity_(Seg):seg,SMART_domains:SM00360,Superfamily_domains:SSF54928		V		T		1190/8478							YES	UHMK1,synonymous_variant,p.=,ENST00000489294,NM_175866.4;UHMK1,synonymous_variant,p.=,ENST00000545294,NM_001184763.1;UHMK1,intron_variant,,ENST00000538489,NM_144624.2;UHMK1,non_coding_transcript_exon_variant,,ENST00000282169,;							LOW	1032/1260		UHMK1_HUMAN			Transcript			.	ENSP00000420270		CCDS1239.1			1	
EYS	0	LGGM	GRCh37	6	65622510	65622510	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	9	.	.	ENST00000503581.1:c.2508G>A	p.Leu836=	p.L836=	ENST00000503581	NM_001142800.1	836	ctG/ctA	0	1		UPI0001AE72B3	0		ENST00000370616		ENSG00000188107	21555		58			HGNC	p.L836L		EYS		SNV			1				ENST00000503581	protein_coding			Superfamily_domains:SSF57196,SMART_domains:SM00181,SMART_domains:SM00179,Gene3D:2.10.25.10,PROSITE_patterns:PS00022,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF65,PROSITE_profiles:PS50026		L		T		2508/9498								EYS,synonymous_variant,p.=,ENST00000503581,NM_001142800.1;EYS,synonymous_variant,p.=,ENST00000370621,;EYS,synonymous_variant,p.=,ENST00000370616,;							LOW	2508/9498		EYS_HUMAN			Transcript			.	ENSP00000359650					1	
FGFR1	0	LGGM	GRCh37	8	38277217	38277217	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	9	.	.	ENST00000425967.3:c.1211T>A	p.Leu404Gln	p.L404Q	ENST00000425967	NM_001174067.1	404	cTg/cAg	0	1		UPI00000534B8	0	NA	ENST00000447712		ENSG00000077782	3688		29	1.39		HGNC	p.L284Q		FGFR1		SNV			1				ENST00000356207	protein_coding	getma.org/?cm=var&var=hg19,8,38277217,A,T&fts=all		PIRSF_domain:PIRSF000628,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF131		L/Q		T	low	2060/5900		getma.org/?cm=msa&ty=f&p=FGFR1_HUMAN&rb=359&re=477&var=L373Q	tolerated(0.54)	E9PNM3_HUMAN,E9PN14_HUMAN,D3DSX2_HUMAN,C9J205_HUMAN				FGFR1,missense_variant,p.Leu373Gln,ENST00000447712,NM_001174063.1,NM_023110.2,NM_015850.3;FGFR1,missense_variant,p.Leu373Gln,ENST00000341462,;FGFR1,missense_variant,p.Leu371Gln,ENST00000397091,;FGFR1,missense_variant,p.Leu373Gln,ENST00000532791,;FGFR1,missense_variant,p.Leu404Gln,ENST00000425967,NM_001174067.1;FGFR1,missense_variant,p.Leu365Gln,ENST00000335922,NM_001174064.1;FGFR1,missense_variant,p.Leu284Gln,ENST00000356207,NM_023105.2;FGFR1,missense_variant,p.Leu282Gln,ENST00000326324,NM_023106.2;FGFR1,missense_variant,p.Leu371Gln,ENST00000397113,NM_001174066.1,NM_001174065.1;FGFR1,missense_variant,p.Leu284Gln,ENST00000397103,;FGFR1,missense_variant,p.Leu371Gln,ENST00000397108,;FGFR1,downstream_gene_variant,,ENST00000525001,;FGFR1,downstream_gene_variant,,ENST00000533668,;RP11-350N15.4,upstream_gene_variant,,ENST00000528407,;FGFR1,downstream_gene_variant,,ENST00000527203,;FGFR1,downstream_gene_variant,,ENST00000530701,;FGFR1,3_prime_UTR_variant,,ENST00000487647,;FGFR1,non_coding_transcript_exon_variant,,ENST00000526570,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527114,;FGFR1,non_coding_transcript_exon_variant,,ENST00000466021,;FGFR1,non_coding_transcript_exon_variant,,ENST00000527745,;FGFR1,downstream_gene_variant,,ENST00000470826,;FGFR1,downstream_gene_variant,,ENST00000496296,;FGFR1,upstream_gene_variant,,ENST00000531196,;FGFR1,downstream_gene_variant,,ENST00000532386,;FGFR1,downstream_gene_variant,,ENST00000464163,;FGFR1,upstream_gene_variant,,ENST00000533619,;FGFR1,upstream_gene_variant,,ENST00000524528,;FGFR1,downstream_gene_variant,,ENST00000475621,;							MODERATE	1118/2469	L373Q	FGFR1_HUMAN			Transcript		benign(0.304)	.	ENSP00000400162		CCDS6107.2			1	
ABCC12	0	LGGM	GRCh37	16	48162545	48162545	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	9	.	.	ENST00000311303.3:c.1340C>T	p.Ala447Val	p.A447V	ENST00000311303	NM_033226.2	447	gCc/gTc	0	1	1	UPI0000456987	0	NA	ENST00000311303		ENSG00000140798	14640		43	0		HGNC	p.A447V		ABCC12		SNV							ENST00000448542	protein_coding	getma.org/?cm=var&var=hg19,16,48162545,G,A&fts=all		hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF10		A/V		A	neutral	1686/5168		getma.org/?cm=msa&ty=f&p=MRP9_HUMAN&rb=392&re=519&var=A447V	tolerated(0.3)	E9PHY2_HUMAN			YES	ABCC12,missense_variant,p.Ala447Val,ENST00000311303,NM_033226.2;ABCC12,missense_variant,p.Ala447Val,ENST00000416054,;ABCC12,missense_variant,p.Ala447Val,ENST00000448542,;ABCC12,missense_variant,p.Ala447Val,ENST00000529084,;ABCC12,missense_variant,p.Ala389Val,ENST00000534418,;ABCC12,missense_variant,p.Ala447Val,ENST00000497206,;ABCC12,missense_variant,p.Ala447Val,ENST00000532494,;ABCC12,missense_variant,p.Ala447Val,ENST00000529504,;ABCC12,non_coding_transcript_exon_variant,,ENST00000528693,;							MODERATE	1340/4080	A447V	MRP9_HUMAN			Transcript		benign(0.001)	.	ENSP00000311030		CCDS10730.1			1	
ASH2L	0	LGGM	GRCh37	8	37972507	37972507	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	9	.	.	ENST00000343823.6:c.766C>T	p.Leu256Phe	p.L256F	ENST00000343823	NM_004674.4	256	Ctt/Ttt	0	1	1	UPI0000038D65	0	getma.org/pdb.php?prot=ASH2L_HUMAN&from=201&to=400&var=L256F	ENST00000343823		ENSG00000129691	744		49	2.07		HGNC	p.L162F		ASH2L		SNV							ENST00000428278	protein_coding	getma.org/?cm=var&var=hg19,8,37972507,C,T&fts=all		hmmpanther:PTHR10598		L/F		T	medium	1075/3090		getma.org/?cm=msa&ty=f&p=ASH2L_HUMAN&rb=201&re=400&var=L256F	deleterious(0)	F5H8F7_HUMAN			YES	ASH2L,missense_variant,p.Leu256Phe,ENST00000343823,NM_004674.4;ASH2L,missense_variant,p.Leu162Phe,ENST00000428278,NM_001105214.2;ASH2L,missense_variant,p.Leu162Phe,ENST00000250635,;ASH2L,missense_variant,p.Leu162Phe,ENST00000521652,NM_001261832.1;ASH2L,missense_variant,p.Leu117Phe,ENST00000545394,NM_001282272.1;ASH2L,downstream_gene_variant,,ENST00000517719,;ASH2L,non_coding_transcript_exon_variant,,ENST00000524263,;ASH2L,3_prime_UTR_variant,,ENST00000517496,;ASH2L,non_coding_transcript_exon_variant,,ENST00000522675,;ASH2L,upstream_gene_variant,,ENST00000518186,;							MODERATE	766/1887	L256F	ASH2L_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000340896		CCDS6101.1			1	
PTGER3	0	LGGM	GRCh37	1	71478072	71478072	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	9	.	.	ENST00000356595.4:c.993T>A	p.Ala331=	p.A331=	ENST00000356595	NM_198718.1	331	gcT/gcA	0	1		UPI0000131534	0		ENST00000306666		ENSG00000050628	9595		47			HGNC	p.A331A		PTGER3		SNV							ENST00000479353	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR11866:SF10,hmmpanther:PTHR11866,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		A		T		1204/2333				Q9UBW3_HUMAN,B2KKV4_HUMAN				PTGER3,synonymous_variant,p.=,ENST00000370924,NM_198715.2;PTGER3,synonymous_variant,p.=,ENST00000306666,NM_198719.1;PTGER3,synonymous_variant,p.=,ENST00000414819,NM_001126044.1;PTGER3,synonymous_variant,p.=,ENST00000351052,;PTGER3,synonymous_variant,p.=,ENST00000356595,NM_198718.1;PTGER3,synonymous_variant,p.=,ENST00000370931,NM_198714.1;PTGER3,synonymous_variant,p.=,ENST00000370932,NM_198717.1;PTGER3,synonymous_variant,p.=,ENST00000354608,;PTGER3,synonymous_variant,p.=,ENST00000460330,NM_198716.1;PTGER3,synonymous_variant,p.=,ENST00000497146,;PTGER3,synonymous_variant,p.=,ENST00000361210,;PTGER3,synonymous_variant,p.=,ENST00000479353,;							LOW	993/1173		PE2R3_HUMAN			Transcript			.	ENSP00000302313		CCDS657.1			1	
CPNE1	0	LGGM	GRCh37	20	34214641	34214641	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	9	.	.	ENST00000317677.5:c.1336C>T	p.Leu446=	p.L446=	ENST00000317677	NM_003915.5	446	Ctg/Ttg	0	1		UPI0000049386	0		ENST00000352393		ENSG00000214078	2314		46			HGNC	p.L441L		CPNE1		SNV							ENST00000317619	protein_coding			Pfam_domain:PF07002,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF2,SMART_domains:SM00327,Superfamily_domains:SSF53300		L		A		1644/2147				Q5JX60_HUMAN,Q5JX59_HUMAN,Q5JX58_HUMAN,Q5JX56_HUMAN,Q5JX55_HUMAN,Q5JX54_HUMAN,Q5JX53_HUMAN,Q5JX44_HUMAN				CPNE1,synonymous_variant,p.=,ENST00000317619,;CPNE1,synonymous_variant,p.=,ENST00000352393,;CPNE1,synonymous_variant,p.=,ENST00000397446,;CPNE1,synonymous_variant,p.=,ENST00000397445,NM_152927.2,NM_152928.2;CPNE1,synonymous_variant,p.=,ENST00000397443,NM_001198863.1,NM_152926.2,NM_152925.2;CPNE1,synonymous_variant,p.=,ENST00000317677,NM_003915.5;CPNE1,synonymous_variant,p.=,ENST00000437340,;CPNE1,synonymous_variant,p.=,ENST00000415920,;CPNE1,intron_variant,,ENST00000397442,;CPNE1,downstream_gene_variant,,ENST00000430570,;CPNE1,downstream_gene_variant,,ENST00000414664,;CPNE1,downstream_gene_variant,,ENST00000412056,;CPNE1,downstream_gene_variant,,ENST00000434795,;CPNE1,downstream_gene_variant,,ENST00000420363,;CPNE1,downstream_gene_variant,,ENST00000439806,;CPNE1,downstream_gene_variant,,ENST00000416778,;CPNE1,non_coding_transcript_exon_variant,,ENST00000462352,;CPNE1,non_coding_transcript_exon_variant,,ENST00000498056,;CPNE1,intron_variant,,ENST00000498814,;CPNE1,3_prime_UTR_variant,,ENST00000401607,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483359,;CPNE1,non_coding_transcript_exon_variant,,ENST00000483495,;CPNE1,non_coding_transcript_exon_variant,,ENST00000473373,;CPNE1,downstream_gene_variant,,ENST00000439669,;CPNE1,downstream_gene_variant,,ENST00000486021,;							LOW	1321/1614		CPNE1_HUMAN			Transcript			.	ENSP00000336945		CCDS13260.1			1	
RGS9	0	LGGM	GRCh37	17	63154440	63154440	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	9	.	.	ENST00000262406.9:c.182A>T	p.Gln61Leu	p.Q61L	ENST00000262406	NM_003835.3	61	cAg/cTg	0	1	1	UPI000013382A	0	getma.org/pdb.php?prot=RGS9_HUMAN&from=33&to=103&var=Q61L	ENST00000262406		ENSG00000108370	10004		55	2.25		HGNC	p.Q61L		RGS9		SNV			1				ENST00000262406	protein_coding	getma.org/?cm=var&var=hg19,17,63154440,A,T&fts=all		Gene3D:1.10.10.10,Pfam_domain:PF00610,PROSITE_profiles:PS50186,hmmpanther:PTHR10845,hmmpanther:PTHR10845:SF20,SMART_domains:SM00049,Superfamily_domains:SSF46785		Q/L		T	medium	249/2375		getma.org/?cm=msa&ty=f&p=RGS9_HUMAN&rb=33&re=103&var=Q61L	deleterious(0.01)				YES	RGS9,missense_variant,p.Gln61Leu,ENST00000449996,NM_001081955.2;RGS9,missense_variant,p.Gln61Leu,ENST00000262406,NM_003835.3;RGS9,missense_variant,p.Gln61Leu,ENST00000443584,NM_001165933.1;RGS9,non_coding_transcript_exon_variant,,ENST00000577186,;RGS9,missense_variant,p.Gln61Leu,ENST00000584234,;RGS9,non_coding_transcript_exon_variant,,ENST00000581175,;RGS9,non_coding_transcript_exon_variant,,ENST00000583473,;							MODERATE	182/2025	Q61L	RGS9_HUMAN			Transcript		benign(0.092)	.	ENSP00000262406		CCDS42373.1			1	
EPHX2	0	LGGM	GRCh37	8	27401278	27401278	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	9	.	.	ENST00000521400.1:c.1462G>T	p.Ala488Ser	p.A488S	ENST00000521400	NM_001979.5	488	Gcc/Tcc	0	1	1	UPI0000073FE5	0	getma.org/pdb.php?prot=HYES_HUMAN&from=286&to=540&var=A488S	ENST00000521400		ENSG00000120915	3402		33	1.575		HGNC	p.A488S		EPHX2		SNV							ENST00000521400	protein_coding	getma.org/?cm=var&var=hg19,8,27401278,G,T&fts=all		hmmpanther:PTHR10992:SF758,hmmpanther:PTHR10992,Pfam_domain:PF00561,Gene3D:3.40.50.1820,Superfamily_domains:SSF53474,Prints_domain:PR00412		A/S		T	low	1892/3140		getma.org/?cm=msa&ty=f&p=HYES_HUMAN&rb=286&re=540&var=A488S	tolerated(0.05)	E5RI53_HUMAN			YES	EPHX2,missense_variant,p.Ala488Ser,ENST00000521400,NM_001979.5;EPHX2,missense_variant,p.Ala435Ser,ENST00000380476,NM_001256484.1,NM_001256482.1;EPHX2,missense_variant,p.Ala422Ser,ENST00000521780,NM_001256483.1;EPHX2,missense_variant,p.Ala456Ser,ENST00000518379,;EPHX2,missense_variant,p.Ala305Ser,ENST00000517536,;EPHX2,downstream_gene_variant,,ENST00000520623,;							MODERATE	1462/1668	A488S	HYES_HUMAN			Transcript		benign(0.419)	.	ENSP00000430269		CCDS6060.1			1	
SYT4	0	LGGM	GRCh37	18	40850375	40850375	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	107	9	.	.	ENST00000255224.3:c.1209G>A	p.Glu403=	p.E403=	ENST00000255224	NM_020783.3	403	gaG/gaA	0	1	1	UPI000013669E	0		ENST00000255224		ENSG00000132872	11512		116			HGNC	p.E385E	COSM187465	SYT4		SNV						1	ENST00000590752	protein_coding			hmmpanther:PTHR10024,hmmpanther:PTHR10024:SF114,Gene3D:2.60.40.150,SMART_domains:SM00239,Superfamily_domains:SSF49562		E		T		1578/4110				M0QZF3_HUMAN,B4DMA9_HUMAN			YES	SYT4,synonymous_variant,p.=,ENST00000255224,NM_020783.3;SYT4,synonymous_variant,p.=,ENST00000590752,;SYT4,downstream_gene_variant,,ENST00000596867,;SYT4,downstream_gene_variant,,ENST00000593720,;SYT4,non_coding_transcript_exon_variant,,ENST00000586678,;SYT4,non_coding_transcript_exon_variant,,ENST00000585604,;SYT4,downstream_gene_variant,,ENST00000589479,;SYT4,downstream_gene_variant,,ENST00000591820,;					1		LOW	1209/1278		SYT4_HUMAN			Transcript			.	ENSP00000255224		CCDS11922.1			1	
ADRA2B	0	LGGM	GRCh37	2	96780661	96780661	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	9	.	.	ENST00000409345.3:c.1228T>A	p.Trp410Arg	p.W410R	ENST00000409345	NM_000682.5	410	Tgg/Agg	0	1	1	UPI0000047181	0	getma.org/pdb.php?prot=ADA2B_HUMAN&from=29&to=426&var=W413R	ENST00000409345		ENSG00000222040	282		21	4.24		HGNC	p.W410R		ADRA2B		SNV							ENST00000409345	protein_coding	getma.org/?cm=var&var=hg19,2,96780661,A,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF26,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		W/R		T	high	1324/3278		getma.org/?cm=msa&ty=f&p=ADA2B_HUMAN&rb=29&re=426&var=W413R	deleterious(0)	A2RUS0_HUMAN			YES	ADRA2B,missense_variant,p.Trp410Arg,ENST00000409345,NM_000682.5;							MODERATE	1228/1344	W413R	ADA2B_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000387281		CCDS56129.1			1	
PPARD	0	LGGM	GRCh37	6	35393787	35393787	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	9	.	.	ENST00000311565.4:c.1257G>A	p.Arg419=	p.R419=	ENST00000311565	NM_001171818.1	419	cgG/cgA	0	1	1	UPI000004EF98	0		ENST00000311565		ENSG00000112033	9235		21			HGNC	p.R316R		PPARD		SNV							ENST00000540939	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24082,hmmpanther:PTHR24082:SF15,Gene3D:1.10.565.10,Superfamily_domains:SSF48508		R		A		1606/3774				F5H830_HUMAN			YES	PPARD,synonymous_variant,p.=,ENST00000311565,NM_001171818.1;PPARD,synonymous_variant,p.=,ENST00000360694,NM_006238.4;PPARD,synonymous_variant,p.=,ENST00000448077,NM_001171819.1;PPARD,synonymous_variant,p.=,ENST00000418635,NM_001171820.1;PPARD,synonymous_variant,p.=,ENST00000540939,;PPARD,downstream_gene_variant,,ENST00000337400,;PPARD,downstream_gene_variant,,ENST00000444397,NM_177435.2;							LOW	1257/1326		PPARD_HUMAN			Transcript			.	ENSP00000310928		CCDS4803.1			1	
PCDHA3	0	LGGM	GRCh37	5	140182976	140182976	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	9	.	.	ENST00000522353.2:c.2194T>A	p.Cys732Ser	p.C732S	ENST00000522353	NM_018906.2	732	Tgt/Agt	0	1	1	UPI00001273CB	0	NA	ENST00000522353		ENSG00000255408	8669		37	3.27		HGNC	p.C732S		PCDHA3		SNV							ENST00000522353	protein_coding	getma.org/?cm=var&var=hg19,5,140182976,T,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF93		C/S		A	medium	2194/5260		getma.org/?cm=msa&ty=f&p=PCDA3_HUMAN&rb=671&re=797&var=C732S	deleterious_low_confidence(0.02)				YES	PCDHA3,missense_variant,p.Cys732Ser,ENST00000522353,NM_018906.2;PCDHA3,missense_variant,p.Cys732Ser,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;							MODERATE	2194/2853	C732S	PCDA3_HUMAN			Transcript		benign(0.062)	.	ENSP00000429808		CCDS54915.1			1	
SIRPB1	0	LGGM	GRCh37	20	1552427	1552427	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	9	.	.	ENST00000381605.4:c.690C>T	p.Ala230=	p.A230=	ENST00000381605	NM_006065.3	230	gcC/gcT	0	1	1	UPI000036700F	0		ENST00000381605		ENSG00000101307	15928		34			HGNC	p.A230A		SIRPB1		SNV							ENST00000381605	protein_coding			Superfamily_domains:SSF48726,SMART_domains:SM00407,Pfam_domain:PF07654,Gene3D:2.60.40.10,hmmpanther:PTHR19971:SF6,hmmpanther:PTHR19971,PROSITE_profiles:PS50835		A		A		755/3241							YES	SIRPB1,synonymous_variant,p.=,ENST00000381605,NM_006065.3;SIRPB1,synonymous_variant,p.=,ENST00000565076,;SIRPB1,intron_variant,,ENST00000381603,NM_001083910.2;SIRPB1,intron_variant,,ENST00000262929,;RP4-576H24.4,intron_variant,,ENST00000564763,;SIRPB1,intron_variant,,ENST00000563840,;RP4-576H24.4,intron_variant,,ENST00000567028,;RP4-576H24.4,intron_variant,,ENST00000566961,;SIRPB1,intron_variant,,ENST00000569629,;							LOW	690/1197		SIRB1_HUMAN			Transcript			.	ENSP00000371018		CCDS13019.1			1	
SLC1A6	0	LGGM	GRCh37	19	15061113	15061113	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	9	.	.	ENST00000221742.3:c.1589A>T	p.Gln530Leu	p.Q530L	ENST00000221742	NM_005071.2	530	cAg/cTg	0	1	1	UPI0000129B1A	0	NA	ENST00000221742		ENSG00000105143	10944		28	0		HGNC	p.Q466L		SLC1A6		SNV							ENST00000430939	protein_coding	getma.org/?cm=var&var=hg19,19,15061113,T,A&fts=all		hmmpanther:PTHR11958,hmmpanther:PTHR11958:SF29		Q/L		A	neutral	1597/1719		getma.org/?cm=msa&ty=f&p=EAA4_HUMAN&rb=523&re=564&var=Q530L	tolerated(0.11)	Q8N753_HUMAN,M0R1V3_HUMAN,M0R106_HUMAN,M0QY32_HUMAN			YES	SLC1A6,missense_variant,p.Gln466Leu,ENST00000430939,;SLC1A6,missense_variant,p.Gln452Leu,ENST00000600144,;SLC1A6,missense_variant,p.Gln530Leu,ENST00000221742,NM_005071.2;							MODERATE	1589/1695	Q530L	EAA4_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000221742		CCDS12321.1			1	
KMT2B	0	LGGM	GRCh37	19	36210760	36210760	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	9	.	.	ENST00000222270.7:c.511C>T	p.Pro171Ser	p.P171S	ENST00000222270	NM_014727.1	171	Cct/Tct	0	1		UPI00001376B5	0	NA	ENST00000420124		ENSG00000272333	15840		63	0		Uniprot_gn	p.P171S	rs752388943,COSM3532647	KMT2B	6.11E-05	SNV						0,1	ENST00000222270	protein_coding	getma.org/?cm=var&var=hg19,19,36210760,C,T&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF280,PIRSF_domain:PIRSF010354		P/S		T	neutral	511/8469	1.54E-05	getma.org/?cm=msa&ty=f&p=MLL4_HUMAN&rb=1&re=780&var=P171S						KMT2B,missense_variant,p.Pro171Ser,ENST00000222270,NM_014727.1;KMT2B,missense_variant,p.Pro171Ser,ENST00000420124,;KMT2B,missense_variant,p.Pro171Ser,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,;					0,1		MODERATE	511/8148	P171S	KMT2B_HUMAN			Transcript		unknown(0)	.	ENSP00000398837	1.66E-05				1	
ABCA13	0	LGGM	GRCh37	7	48443356	48443356	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	9	.	.	ENST00000435803.1:c.11950C>T	p.Leu3984Phe	p.L3984F	ENST00000435803	NM_152701.3	3984	Ctc/Ttc	0	1	1	UPI00001A95EA	0	getma.org/pdb.php?prot=ABCAD_HUMAN&from=3882&to=4004&var=L3984F	ENST00000435803		ENSG00000179869	14638		55	3.385		HGNC	p.L3984F		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48443356,C,T&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00382,Pfam_domain:PF00005,Gene3D:3.40.50.300,hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113,PROSITE_profiles:PS50893,Low_complexity_(Seg):seg		L/F		T	medium	11974/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=3882&re=4004&var=L3984F					YES	ABCA13,missense_variant,p.Leu3984Phe,ENST00000435803,NM_152701.3;ABCA13,missense_variant,p.Leu250Phe,ENST00000453246,;ABCA13,non_coding_transcript_exon_variant,,ENST00000484268,;							MODERATE	11950/15177	L3984F	ABCAD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000411096		CCDS47584.1			1	
SNCA	0	LGGM	GRCh37	4	90756704	90756704	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	9	.	.	ENST00000394986.1:c.115T>A	p.Tyr39Asn	p.Y39N	ENST00000394986		39	Tat/Aat	0	1		UPI000003173B	0	getma.org/pdb.php?prot=SYUA_HUMAN&from=1&to=132&var=Y39N	ENST00000336904		ENSG00000145335	11138		65	2.02		HGNC	p.Y39N		SNCA		SNV			1				ENST00000502987	protein_coding	getma.org/?cm=var&var=hg19,4,90756704,A,T&fts=all		Superfamily_domains:0053543,Gene3D:1xq8A00,Pfam_domain:PF01387,Prints_domain:PR01211,hmmpanther:PTHR13820,hmmpanther:PTHR13820:SF5		Y/N		T	medium	204/1087		getma.org/?cm=msa&ty=f&p=SYUA_HUMAN&rb=1&re=132&var=Y39N	deleterious(0.01)	Q4W5L2_HUMAN,F6L6N6_HUMAN,D6RA31_HUMAN				SNCA,missense_variant,p.Tyr39Asn,ENST00000394989,;SNCA,missense_variant,p.Tyr39Asn,ENST00000420646,NM_007308.2,NM_001146054.1;SNCA,missense_variant,p.Tyr39Asn,ENST00000394986,;SNCA,missense_variant,p.Tyr39Asn,ENST00000394991,NM_000345.3;SNCA,missense_variant,p.Tyr39Asn,ENST00000345009,;SNCA,missense_variant,p.Tyr39Asn,ENST00000336904,NM_001146055.1;SNCA,missense_variant,p.Tyr39Asn,ENST00000508895,;SNCA,missense_variant,p.Tyr39Asn,ENST00000502987,;SNCA,missense_variant,p.Tyr39Asn,ENST00000506244,;SNCA,missense_variant,p.Tyr39Asn,ENST00000505199,;SNCA,missense_variant,p.Tyr39Asn,ENST00000506691,;RP11-67M1.1,upstream_gene_variant,,ENST00000501215,;RP11-67M1.1,upstream_gene_variant,,ENST00000513653,;							MODERATE	115/423	Y39N	SYUA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000338345		CCDS3634.1			1	
FUT9	0	LGGM	GRCh37	6	96651533	96651533	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	9	.	.	ENST00000302103.5:c.502T>C	p.Tyr168His	p.Y168H	ENST00000302103	NM_006581.3	168	Tat/Cat	0	1	1	UPI000013E792	0	NA	ENST00000302103		ENSG00000172461	4020		45	2.535		HGNC	p.Y168H		FUT9		SNV							ENST00000302103	protein_coding	getma.org/?cm=var&var=hg19,6,96651533,T,C&fts=all		hmmpanther:PTHR11929,hmmpanther:PTHR11929:SF10,Pfam_domain:PF00852,Superfamily_domains:SSF53756		Y/H		C	medium	828/12783		getma.org/?cm=msa&ty=f&p=FUT9_HUMAN&rb=6&re=358&var=Y168H	tolerated(0.1)				YES	FUT9,missense_variant,p.Tyr168His,ENST00000302103,NM_006581.3;							MODERATE	502/1080	Y168H	FUT9_HUMAN			Transcript		possibly_damaging(0.695)	.	ENSP00000302599		CCDS5033.1			1	
OR6B2	0	LGGM	GRCh37	2	240969237	240969237	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	9	.	.	ENST00000402971.2:c.610T>A	p.Phe204Ile	p.F204I	ENST00000402971	NM_001005853.1	204	Ttc/Atc	0	1	1	UPI0000061EBF	0	NA	ENST00000402971		ENSG00000182083	15041		46	-1.405		HGNC	p.F204I		OR6B2		SNV							ENST00000402971	protein_coding	getma.org/?cm=var&var=hg19,2,240969237,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF106,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		F/I		T	neutral	670/1066		getma.org/?cm=msa&ty=f&p=OR6B2_HUMAN&rb=139&re=283&var=F204I	tolerated(0.45)	I0EZ57_HUMAN			YES	OR6B2,missense_variant,p.Phe204Ile,ENST00000402971,NM_001005853.1;NDUFA10,upstream_gene_variant,,ENST00000252711,NM_004544.3;NDUFA10,upstream_gene_variant,,ENST00000404554,;NDUFA10,upstream_gene_variant,,ENST00000307300,;NDUFA10,upstream_gene_variant,,ENST00000443626,;NDUFA10,upstream_gene_variant,,ENST00000407129,;NDUFA10,upstream_gene_variant,,ENST00000485344,;NDUFA10,upstream_gene_variant,,ENST00000497536,;NDUFA10,upstream_gene_variant,,ENST00000414580,;							MODERATE	610/939	F204I	OR6B2_HUMAN			Transcript		benign(0.01)	.	ENSP00000384563		CCDS46559.1			1	
SYDE1	0	LGGM	GRCh37	19	15224695	15224695	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	64	9	.	.	ENST00000342784.2:c.2129A>G	p.His710Arg	p.H710R	ENST00000342784	NM_033025.4	710	cAc/cGc	0	1	1	UPI00001C092C	0	NA	ENST00000342784		ENSG00000105137	25824		73	0.235		HGNC	p.H367R		SYDE1		SNV							ENST00000600252	protein_coding	getma.org/?cm=var&var=hg19,19,15224695,A,G&fts=all		hmmpanther:PTHR23178:SF22,hmmpanther:PTHR23178		H/R		G	neutral	2160/3264		getma.org/?cm=msa&ty=f&p=SYDE1_HUMAN&rb=606&re=733&var=H710R	tolerated(1)				YES	SYDE1,missense_variant,p.His367Arg,ENST00000600252,;SYDE1,missense_variant,p.His710Arg,ENST00000342784,NM_033025.4;SYDE1,missense_variant,p.His643Arg,ENST00000600440,;ILVBL,downstream_gene_variant,,ENST00000263383,NM_006844.4;ILVBL,downstream_gene_variant,,ENST00000534378,;ILVBL,downstream_gene_variant,,ENST00000598709,;SYDE1,downstream_gene_variant,,ENST00000602203,;SYDE1,downstream_gene_variant,,ENST00000597977,;ILVBL,downstream_gene_variant,,ENST00000533086,;ILVBL,downstream_gene_variant,,ENST00000533148,;ILVBL,downstream_gene_variant,,ENST00000534806,;ILVBL,downstream_gene_variant,,ENST00000524779,;ILVBL,downstream_gene_variant,,ENST00000525880,;ILVBL,downstream_gene_variant,,ENST00000596093,;							MODERATE	2129/2208	H710R	SYDE1_HUMAN			Transcript		benign(0.003)	.	ENSP00000341489		CCDS12324.1			1	
TBC1D13	0	LGGM	GRCh37	9	131565569	131565569	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	9	.	.	ENST00000372648.5:c.584A>G	p.Asn195Ser	p.N195S	ENST00000372648	NM_018201.3	195	aAt/aGt	0	1	1	UPI000013E816	0	NA	ENST00000372648		ENSG00000107021	25571		23	0.61		HGNC	p.N195S		TBC1D13		SNV							ENST00000372648	protein_coding	getma.org/?cm=var&var=hg19,9,131565569,A,G&fts=all		PROSITE_profiles:PS50086,hmmpanther:PTHR22957:SF252,hmmpanther:PTHR22957,SMART_domains:SM00164		N/S		G	neutral	734/3906		getma.org/?cm=msa&ty=f&p=TBC13_HUMAN&rb=35&re=345&var=N195S	tolerated(0.58)	Q59F95_HUMAN,B4DHM6_HUMAN,B3KW04_HUMAN			YES	TBC1D13,missense_variant,p.Asn195Ser,ENST00000372648,NM_018201.3;TBC1D13,missense_variant,p.Asn14Ser,ENST00000539497,;TBC1D13,intron_variant,,ENST00000223865,NM_001286772.1;TBC1D13,non_coding_transcript_exon_variant,,ENST00000466056,;							MODERATE	584/1203	N195S	TBC13_HUMAN			Transcript		benign(0)	.	ENSP00000361731		CCDS6911.1			1	
SCRT1	0	LGGM	GRCh37	8	145556961	145556961	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	9	.	.	ENST00000332135.4:c.933G>A	p.Lys311=	p.K311=	ENST00000332135	NM_031309.5	311	aaG/aaA	0	1	1	UPI0000071337	0		ENST00000332135		ENSG00000170616	15950		23			HGNC	p.K311K	rs574785949	SCRT1		SNV							ENST00000332135	protein_coding			Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF345,SMART_domains:SM00355,Superfamily_domains:SSF57667		K		T		1045/3778	1.72E-05						YES	SCRT1,synonymous_variant,p.=,ENST00000332135,NM_031309.5;							LOW	933/1047		SCRT1_HUMAN			Transcript			.	ENSP00000331692	8.25E-06	CCDS6421.1			1	
RP11-343C2.12	0	LGGM	GRCh37	16	69363008	69363008	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	9	.	.	ENST00000562949.1:c.426G>A	p.Trp142Ter	p.W142*	ENST00000562949		142	tgG/tgA	0	1	1	UPI0002467188	0	getma.org/pdb.php?prot=DEFM_HUMAN&from=64&to=234&var=D217N	ENST00000562949		ENSG00000272617			55	4.02		Clone_based_vega_gene	p.W142X		RP11-343C2.12		SNV							ENST00000562949	protein_coding	getma.org/?cm=var&var=hg19,16,69363008,C,T&fts=all		hmmpanther:PTHR21311,hmmpanther:PTHR21311:SF0		W/*		T	high	426/887		getma.org/?cm=msa&ty=f&p=DEFM_HUMAN&rb=64&re=234&var=D217N		H3BUN2_HUMAN			YES	RP11-343C2.12,stop_gained,p.Trp142Ter,ENST00000562949,;PDF,missense_variant,p.Asp217Asn,ENST00000288022,NM_022341.1;COG8,3_prime_UTR_variant,,ENST00000306875,NM_032382.4;COG8,intron_variant,,ENST00000562595,;VPS4A,downstream_gene_variant,,ENST00000254950,NM_013245.2;COG8,downstream_gene_variant,,ENST00000562081,;COG8,upstream_gene_variant,,ENST00000564419,;VPS4A,downstream_gene_variant,,ENST00000566354,;							HIGH	426/495	D217N				Transcript			.	ENSP00000457718					1	
RFX5	0	LGGM	GRCh37	1	151315625	151315625	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	9	.	.	ENST00000290524.4:c.888G>A	p.Gly296=	p.G296=	ENST00000290524	NM_000449.3	296	ggG/ggA	0	1	1	UPI0000000E8B	0		ENST00000290524		ENSG00000143390	9986		38			HGNC	p.G296G		RFX5		SNV			1				ENST00000368870	protein_coding					G		T		1067/3576				Q9UG77_HUMAN,F8W689_HUMAN,F6X9D6_HUMAN,F6X8N2_HUMAN,F6UE82_HUMAN,F6U6P3_HUMAN,F6TYI9_HUMAN,F6S3S0_HUMAN,F6R6G4_HUMAN,F2Z2G0_HUMAN			YES	RFX5,synonymous_variant,p.=,ENST00000290524,NM_000449.3,NM_001025603.1;RFX5,synonymous_variant,p.=,ENST00000368870,;RFX5,synonymous_variant,p.=,ENST00000452671,;RFX5,synonymous_variant,p.=,ENST00000452513,;RFX5,synonymous_variant,p.=,ENST00000392746,;RFX5,synonymous_variant,p.=,ENST00000436637,;RFX5,downstream_gene_variant,,ENST00000450506,;RFX5,downstream_gene_variant,,ENST00000422595,;RFX5,downstream_gene_variant,,ENST00000437327,;RFX5,downstream_gene_variant,,ENST00000430227,;RFX5,downstream_gene_variant,,ENST00000412774,;RFX5,downstream_gene_variant,,ENST00000436271,;RFX5,downstream_gene_variant,,ENST00000458484,;RP11-126K1.6,upstream_gene_variant,,ENST00000455503,;RP11-126K1.8,downstream_gene_variant,,ENST00000422153,;RFX5,downstream_gene_variant,,ENST00000478564,;RFX5,downstream_gene_variant,,ENST00000444392,;RFX5,downstream_gene_variant,,ENST00000494217,;RFX5,downstream_gene_variant,,ENST00000479681,;RFX5,downstream_gene_variant,,ENST00000435314,;RFX5,downstream_gene_variant,,ENST00000452456,;RFX5,downstream_gene_variant,,ENST00000421986,;RFX5,downstream_gene_variant,,ENST00000475144,;RFX5,downstream_gene_variant,,ENST00000469513,;							LOW	888/1851		RFX5_HUMAN			Transcript			.	ENSP00000290524		CCDS994.1			1	
ZNF208	0	LGGM	GRCh37	19	22156657	22156657	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	9	.	.	ENST00000397126.4:c.1179A>G	p.Gly393=	p.G393=	ENST00000397126	NM_007153.3	393	ggA/ggG	0	1	1	UPI0001B23C28	0		ENST00000397126		ENSG00000160321	12999		72			HGNC	p.G393G		ZNF208		SNV							ENST00000397126	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF103,Superfamily_domains:SSF57667		G		C		1328/3992							YES	ZNF208,synonymous_variant,p.=,ENST00000397126,NM_007153.3;ZNF208,intron_variant,,ENST00000601773,;ZNF208,intron_variant,,ENST00000599916,;							LOW	1179/3843		ZN208_HUMAN			Transcript			.	ENSP00000380315		CCDS54240.1			1	
TFEC	0	LGGM	GRCh37	7	115596820	115596820	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	9	.	.	ENST00000265440.7:c.295A>T	p.Ser99Cys	p.S99C	ENST00000265440	NM_012252.3	99	Agc/Tgc	0	1	1	UPI000006CC81	0	NA	ENST00000265440		ENSG00000105967	11754		65	0.995		HGNC	p.S189C		TFEC		SNV							ENST00000484212	protein_coding	getma.org/?cm=var&var=hg19,7,115596820,T,A&fts=all		hmmpanther:PTHR10014,hmmpanther:PTHR10014:SF13		S/C		A	low	476/6628		getma.org/?cm=msa&ty=f&p=TFEC_HUMAN&rb=53&re=139&var=S99C	tolerated(0.11)	Q75MG2_HUMAN,Q75KY0_HUMAN			YES	TFEC,missense_variant,p.Ser99Cys,ENST00000265440,NM_012252.3;TFEC,missense_variant,p.Ser70Cys,ENST00000320239,NM_001018058.2;TFEC,missense_variant,p.Ser32Cys,ENST00000457268,NM_001244583.1;TFEC,missense_variant,p.Ser70Cys,ENST00000393485,;TFEC,missense_variant,p.Ser189Cys,ENST00000484212,;TFEC,non_coding_transcript_exon_variant,,ENST00000497829,;							MODERATE	295/1044	S99C	TFEC_HUMAN			Transcript		benign(0.008)	.	ENSP00000265440		CCDS5762.1			1	
EDC4	0	LGGM	GRCh37	16	67913610	67913610	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	9	.	.	ENST00000358933.5:c.1754G>A	p.Ser585Asn	p.S585N	ENST00000358933	NM_014329.4	585	aGc/aAc	0	1	1	UPI0000141377	0	NA	ENST00000358933		ENSG00000038358	17157		62	0.55		HGNC	p.S585N	rs766271263	EDC4		SNV							ENST00000358933	protein_coding	getma.org/?cm=var&var=hg19,16,67913610,G,A&fts=all		hmmpanther:PTHR15598		S/N		A	neutral	1993/4800	1.51E-05	getma.org/?cm=msa&ty=f&p=EDC4_HUMAN&rb=526&re=605&var=S585N	tolerated(0.23)				YES	EDC4,missense_variant,p.Ser585Asn,ENST00000358933,NM_014329.4;EDC4,upstream_gene_variant,,ENST00000577105,;EDC4,upstream_gene_variant,,ENST00000575033,;EDC4,upstream_gene_variant,,ENST00000573985,;CTC-479C5.10,upstream_gene_variant,,ENST00000572067,;AC040162.1,downstream_gene_variant,,ENST00000408599,;EDC4,non_coding_transcript_exon_variant,,ENST00000574770,;EDC4,non_coding_transcript_exon_variant,,ENST00000572221,;EDC4,non_coding_transcript_exon_variant,,ENST00000573992,;EDC4,non_coding_transcript_exon_variant,,ENST00000536072,;EDC4,non_coding_transcript_exon_variant,,ENST00000572031,;EDC4,upstream_gene_variant,,ENST00000575514,;EDC4,upstream_gene_variant,,ENST00000577028,;EDC4,upstream_gene_variant,,ENST00000576972,;EDC4,upstream_gene_variant,,ENST00000575507,;EDC4,upstream_gene_variant,,ENST00000572724,;							MODERATE	1754/4206	S585N	EDC4_HUMAN			Transcript		benign(0.287)	.	ENSP00000351811	8.24E-06	CCDS10849.1			1	
HINFP	0	LGGM	GRCh37	11	118997717	118997717	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	9	.	.	ENST00000350777.2:c.63C>T	p.Ser21=	p.S21=	ENST00000350777	NM_198971.2	21	tcC/tcT	0	1	1	UPI000013EB5D	0		ENST00000350777		ENSG00000172273	17850		38			HGNC	p.S21S		HINFP		SNV							ENST00000529988	protein_coding			PROSITE_patterns:PS00028,hmmpanther:PTHR24391,hmmpanther:PTHR24391:SF3,SMART_domains:SM00355		S		T		126/3161				E9PL67_HUMAN,E9PJA3_HUMAN			YES	HINFP,synonymous_variant,p.=,ENST00000532312,;HINFP,synonymous_variant,p.=,ENST00000350777,NM_198971.2,NM_015517.4,NM_001243259.1;HINFP,synonymous_variant,p.=,ENST00000527410,;HINFP,synonymous_variant,p.=,ENST00000530678,;HINFP,synonymous_variant,p.=,ENST00000529988,;HINFP,intron_variant,,ENST00000527354,;HINFP,non_coding_transcript_exon_variant,,ENST00000529354,;HINFP,non_coding_transcript_exon_variant,,ENST00000527206,;HINFP,intron_variant,,ENST00000531360,;HINFP,upstream_gene_variant,,ENST00000527755,;HINFP,upstream_gene_variant,,ENST00000531022,;HINFP,upstream_gene_variant,,ENST00000529808,;HINFP,upstream_gene_variant,,ENST00000529610,;							LOW	63/1554		HINFP_HUMAN			Transcript			.	ENSP00000318085		CCDS8414.1			1	
ERBB4	0	LGGM	GRCh37	2	212288930	212288930	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	9	.	.	ENST00000342788.4:c.2816T>A	p.Leu939Ter	p.L939*	ENST00000342788	NM_005235.2	939	tTg/tAg	0	1	1	UPI00000499DF	0	NA	ENST00000342788		ENSG00000178568	3432		43	0		HGNC	p.L939X		ERBB4		SNV			1				ENST00000436443	protein_coding	getma.org/?cm=var&var=hg19,2,212288930,A,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000619,PROSITE_profiles:PS50011,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF90,SMART_domains:SM00219,Superfamily_domains:SSF56112		L/*		T	NA	3127/12132		NA		Q580Q7_HUMAN,Q53T57_HUMAN,Q53R48_HUMAN,Q53R25_HUMAN,Q53QS8_HUMAN,Q4ZG14_HUMAN,E9PDR1_HUMAN			YES	ERBB4,stop_gained,p.Leu939Ter,ENST00000342788,NM_005235.2;ERBB4,stop_gained,p.Leu939Ter,ENST00000436443,NM_001042599.1;ERBB4,stop_gained,p.Leu929Ter,ENST00000402597,;							HIGH	2816/3927	L939*	ERBB4_HUMAN			Transcript			.	ENSP00000342235		CCDS2394.1			1	
APOBEC3G	0	LGGM	GRCh37	22	39482459	39482459	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	9	.	.	ENST00000407997.3:c.911A>T	p.His304Leu	p.H304L	ENST00000407997	NM_021822.3	304	cAc/cTc	0	1	1	UPI00000709E2	0	getma.org/pdb.php?prot=ABC3G_HUMAN&from=202&to=380&var=H304L	ENST00000407997		ENSG00000239713	17357		63	2.63		HGNC	p.H304L		APOBEC3G		SNV							ENST00000452957	protein_coding	getma.org/?cm=var&var=hg19,22,39482459,A,T&fts=all		hmmpanther:PTHR13857,hmmpanther:PTHR13857:SF23,Pfam_domain:PF08210,Superfamily_domains:SSF53927		H/L		T	medium	1268/1834		getma.org/?cm=msa&ty=f&p=ABC3G_HUMAN&rb=202&re=380&var=H304L	deleterious(0.02)	B2LYL6_HUMAN			YES	APOBEC3G,missense_variant,p.His304Leu,ENST00000407997,NM_021822.3;APOBEC3G,missense_variant,p.His304Leu,ENST00000452957,;APOBEC3G,downstream_gene_variant,,ENST00000461827,;APOBEC3G,downstream_gene_variant,,ENST00000494150,;APOBEC3G,downstream_gene_variant,,ENST00000481958,;APOBEC3G,downstream_gene_variant,,ENST00000480000,;							MODERATE	911/1155	H304L	ABC3G_HUMAN			Transcript		benign(0.358)	.	ENSP00000385057		CCDS13984.1			1	
STAB1	0	LGGM	GRCh37	3	52546864	52546864	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	9	.	.	ENST00000321725.6:c.3048T>A	p.Pro1016=	p.P1016=	ENST00000321725	NM_015136.2	1016	ccT/ccA	0	1	1	UPI0000140C12	0		ENST00000321725		ENSG00000010327	18628		29			HGNC	p.P1016P		STAB1		SNV							ENST00000321725	protein_coding			Superfamily_domains:SSF82153,Pfam_domain:PF02469,Gene3D:2.30.180.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038,PROSITE_profiles:PS50213		P		A		3124/7928							YES	STAB1,synonymous_variant,p.=,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000461325,;STAB1,downstream_gene_variant,,ENST00000481607,;STAB1,downstream_gene_variant,,ENST00000484850,;							LOW	3048/7713		STAB1_HUMAN			Transcript			.	ENSP00000312946		CCDS33768.1			1	
MS4A7	0	LGGM	GRCh37	11	60157029	60157029	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	9	.	.	ENST00000300184.3:c.506A>T	p.Tyr169Phe	p.Y169F	ENST00000300184	NM_206939.1	169	tAt/tTt	0	1	1	UPI0000043671	0	NA	ENST00000300184		ENSG00000166927	13378		39	1.395		HGNC	p.Y124F		MS4A7		SNV							ENST00000358246	protein_coding	getma.org/?cm=var&var=hg19,11,60157029,A,T&fts=all		Pfam_domain:PF04103,hmmpanther:PTHR23320,hmmpanther:PTHR23320:SF8,Low_complexity_(Seg):seg		Y/F		T	low	702/1869		getma.org/?cm=msa&ty=f&p=MS4A7_HUMAN&rb=47&re=207&var=Y169F	tolerated(0.09)				YES	MS4A7,missense_variant,p.Tyr124Phe,ENST00000358246,NM_206938.1,NM_206940.1;MS4A7,missense_variant,p.Tyr169Phe,ENST00000300184,NM_206939.1,NM_021201.4;MS4A7,missense_variant,p.Tyr124Phe,ENST00000534016,;MS4A7,missense_variant,p.Tyr124Phe,ENST00000530614,;MS4A7,missense_variant,p.Tyr105Phe,ENST00000530027,;MS4A14,intron_variant,,ENST00000531787,;MS4A7,intron_variant,,ENST00000530234,;MS4A7,downstream_gene_variant,,ENST00000528215,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528808,;MS4A7,non_coding_transcript_exon_variant,,ENST00000528587,;MS4A7,non_coding_transcript_exon_variant,,ENST00000533849,;MS4A7,non_coding_transcript_exon_variant,,ENST00000534310,;MS4A6E,intron_variant,,ENST00000532756,;							MODERATE	506/723	Y169F	MS4A7_HUMAN			Transcript		probably_damaging(0.95)	.	ENSP00000300184		CCDS7985.1			1	
TTC28	0	LGGM	GRCh37	22	28501598	28501598	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	9	.	.	ENST00000397906.2:c.2976C>T	p.Asp992=	p.D992=	ENST00000397906	NM_001145418.1	992	gaC/gaT	0	1	1	UPI00003E58F8	0		ENST00000397906		ENSG00000100154	29179		43			HGNC	p.D992D		TTC28		SNV							ENST00000397906	protein_coding			Gene3D:1.25.40.10,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF13424,PROSITE_profiles:PS50293,hmmpanther:PTHR10098,hmmpanther:PTHR10098:SF106,Superfamily_domains:SSF48452		D		A		3118/11793							YES	TTC28,synonymous_variant,p.=,ENST00000397906,NM_001145418.1;							LOW	2976/7446		TTC28_HUMAN			Transcript			.	ENSP00000381003		CCDS46678.1			1	
KNTC1	0	LGGM	GRCh37	12	123067386	123067386	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	9	.	.	ENST00000333479.7:c.3117A>T	p.Ile1039=	p.I1039=	ENST00000333479	NM_014708.4	1039	atA/atT	0	1	1	UPI0000047FD6	0		ENST00000333479		ENSG00000184445	17255		56			HGNC	p.I1039I		KNTC1		SNV							ENST00000333479	protein_coding			hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688		I		T		3294/6975				J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,synonymous_variant,p.=,ENST00000333479,NM_014708.4;KNTC1,intron_variant,,ENST00000450485,;							LOW	3117/6630		KNTC1_HUMAN			Transcript			.	ENSP00000328236		CCDS45002.1			1	
RP11-480I12.4	0	LGGM	GRCh37	1	202795214	202795214	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	9	.	.	ENST00000330493.5:c.580C>T	p.Pro194Ser	p.P194S	ENST00000330493		194	Cct/Tct	0	1	1	UPI0000161151	0		ENST00000330493		ENSG00000184774			47			Clone_based_vega_gene	p.P194S		RP11-480I12.4		SNV							ENST00000549576	protein_coding					P/S		T		1671/2810							YES	RP11-480I12.4,missense_variant,p.Pro194Ser,ENST00000330493,;RP11-480I12.4,missense_variant,p.Pro194Ser,ENST00000549576,;							MODERATE	580/618		MGT4L_HUMAN			Transcript		benign(0.047)	.	ENSP00000446921					1	
ASGR1	0	LGGM	GRCh37	17	7077010	7077010	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	9	.	.	ENST00000269299.3:c.844G>A	p.Asp282Asn	p.D282N	ENST00000269299	NM_001197216.2	282	Gac/Aac	0	1	1	UPI0000001604	0	getma.org/pdb.php?prot=ASGR1_HUMAN&from=280&to=291&var=D282N	ENST00000269299		ENSG00000141505	742		28	0.205		HGNC	p.D282N	COSM39854	ASGR1		SNV						1	ENST00000269299	protein_coding	getma.org/?cm=var&var=hg19,17,7077010,C,T&fts=all		hmmpanther:PTHR22802,hmmpanther:PTHR22802:SF208,Gene3D:3.10.100.10		D/N		T	neutral	1244/1504		getma.org/?cm=msa&ty=f&p=ASGR1_HUMAN&rb=250&re=291&var=D282N	tolerated(0.54)	Q6FGQ5_HUMAN,J3QSZ2_HUMAN,I3L2S9_HUMAN,I3L1F8_HUMAN,I3L129_HUMAN			YES	ASGR1,missense_variant,p.Asp243Asn,ENST00000574388,;ASGR1,missense_variant,p.Asp282Asn,ENST00000269299,NM_001197216.2,NM_001671.4;ASGR1,missense_variant,p.Asp181Asn,ENST00000380920,;ASGR1,3_prime_UTR_variant,,ENST00000574330,;ASGR1,downstream_gene_variant,,ENST00000573083,;ASGR1,downstream_gene_variant,,ENST00000572879,;ASGR1,downstream_gene_variant,,ENST00000570576,;ASGR1,downstream_gene_variant,,ENST00000573596,;					1		MODERATE	844/876	D282N	ASGR1_HUMAN			Transcript		benign(0.001)	.	ENSP00000269299		CCDS11089.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70674020	70674020	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	9	.	.	ENST00000260126.4:c.998C>T	p.Pro333Leu	p.P333L	ENST00000260126	NM_030958.2	333	cCt/cTt	0	1	1	UPI0000140F53	0	NA	ENST00000260126		ENSG00000137571	19046		56	0.425		HGNC	p.P333L	rs779442274	SLCO5A1	6.07E-05	SNV							ENST00000260126	protein_coding	getma.org/?cm=var&var=hg19,8,70674020,G,A&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF03137,PROSITE_profiles:PS50850,hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86,Superfamily_domains:SSF103473,TIGRFAM_domain:TIGR00805		P/L		A	neutral	1705/9076		getma.org/?cm=msa&ty=f&p=SO5A1_HUMAN&rb=127&re=735&var=P333L	tolerated(0.36)				YES	SLCO5A1,missense_variant,p.Pro333Leu,ENST00000260126,NM_030958.2;SLCO5A1,missense_variant,p.Pro333Leu,ENST00000524945,NM_001146008.1;SLCO5A1,missense_variant,p.Pro333Leu,ENST00000530307,NM_001146009.1;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000528658,;SLCO5A1,non_coding_transcript_exon_variant,,ENST00000532388,;SLCO5A1,intron_variant,,ENST00000526750,;							MODERATE	998/2547	P333L	SO5A1_HUMAN			Transcript		benign(0.026)	.	ENSP00000260126	8.24E-06	CCDS6205.1			1	
ZNF778	0	LGGM	GRCh37	16	89294042	89294042	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	69	9	.	.	ENST00000433976.2:c.1262A>T	p.Tyr421Phe	p.Y421F	ENST00000433976	NM_001201407.1	421	tAc/tTc	0	1	1	UPI00001B6521	0	getma.org/pdb.php?prot=ZN778_HUMAN&from=407&to=430&var=Y421F	ENST00000433976		ENSG00000170100	26479		78	0.64		HGNC	p.Y421F		ZNF778		SNV							ENST00000433976	protein_coding	getma.org/?cm=var&var=hg19,16,89294042,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24381:SF116,hmmpanther:PTHR24381,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		Y/F		T	neutral	1594/2915		getma.org/?cm=msa&ty=f&p=ZN778_HUMAN&rb=387&re=450&var=Y421F	tolerated(0.33)	H3BUU4_HUMAN			YES	ZNF778,missense_variant,p.Tyr421Phe,ENST00000433976,NM_001201407.1,NM_182531.3;ZNF778,missense_variant,p.Tyr379Phe,ENST00000306502,;ZNF778,downstream_gene_variant,,ENST00000564906,;RP11-46C24.6,intron_variant,,ENST00000563182,;ZNF778,3_prime_UTR_variant,,ENST00000567651,;ZNF778,downstream_gene_variant,,ENST00000565414,;							MODERATE	1262/2190	Y421F	ZN778_HUMAN			Transcript		probably_damaging(0.955)	.	ENSP00000405289		CCDS45550.1			1	
TP53	0	LGGM	GRCh37	17	7578427	7578427	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	9	.	.	ENST00000269305.4:c.503A>G	p.His168Arg	p.H168R	ENST00000269305	NM_001126112.2	168	cAc/cGc	0	1	1	UPI000002ED67	0	getma.org/pdb.php?prot=P53_HUMAN&from=95&to=289&var=H168R	ENST00000269305		ENSG00000141510	11998		24	2.93		HGNC	p.H168R	TP53_g.12491A>G,COSM43545,COSM3388206,COSM3388209,COSM3388211,COSM3388208,COSM3388207,COSM3388210	TP53		SNV			1			0,1,1,1,1,1,1,1	ENST00000359597	protein_coding	getma.org/?cm=var&var=hg19,17,7578427,T,C&fts=all		Gene3D:2.60.40.720,Pfam_domain:PF00870,Prints_domain:PR00386,hmmpanther:PTHR11447,hmmpanther:PTHR11447:SF6,Superfamily_domains:SSF49417		H/R		C	medium	693/2579		getma.org/?cm=msa&ty=f&p=P53_HUMAN&rb=95&re=289&var=H168R	deleterious(0)	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			YES	TP53,missense_variant,p.His168Arg,ENST00000420246,NM_001126114.2,NM_001276696.1;TP53,missense_variant,p.His168Arg,ENST00000455263,NM_001276695.1,NM_001126113.2;TP53,missense_variant,p.His168Arg,ENST00000269305,NM_001126112.2,NM_001276761.1,NM_001276760.1,NM_000546.5,NM_001126118.1;TP53,missense_variant,p.His168Arg,ENST00000445888,;TP53,missense_variant,p.His168Arg,ENST00000359597,;TP53,missense_variant,p.His168Arg,ENST00000413465,;TP53,missense_variant,p.His36Arg,ENST00000509690,;TP53,missense_variant,p.His75Arg,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,;					0,1,1,1,1,1,1,1		MODERATE	503/1182	H168R	P53_HUMAN			Transcript		possibly_damaging(0.733)	.	ENSP00000269305		CCDS11118.1			1	
TPTE	0	LGGM	GRCh37	21	10934118	10934118	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	159	9	.	.	ENST00000361285.4:c.859G>A	p.Glu287Lys	p.E287K	ENST00000361285	NM_199261.2	287	Gaa/Aaa	0	1	1	UPI000016A18A	0	getma.org/pdb.php?prot=TPTE_HUMAN&from=259&to=386&var=E287K	ENST00000361285		ENSG00000166157	12023		168	3.06		HGNC	p.E269K		TPTE		SNV							ENST00000298232	protein_coding	getma.org/?cm=var&var=hg19,21,10934118,C,T&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00782,PROSITE_profiles:PS51181,hmmpanther:PTHR12305,Superfamily_domains:SSF52799		E/K		T	medium	1189/2150		getma.org/?cm=msa&ty=f&p=TPTE_HUMAN&rb=259&re=386&var=E287K	deleterious(0.05)				YES	TPTE,missense_variant,p.Glu269Lys,ENST00000298232,NM_199259.2;TPTE,missense_variant,p.Glu287Lys,ENST00000361285,NM_199261.2;TPTE,missense_variant,p.Glu249Lys,ENST00000342420,NM_199260.2;TPTE,splice_region_variant,,ENST00000415664,;TPTE,splice_region_variant,,ENST00000447568,;CYCSP41,downstream_gene_variant,,ENST00000451532,;							MODERATE	859/1656	E287K	TPTE_HUMAN			Transcript		probably_damaging(0.951)	.	ENSP00000355208		CCDS13560.2			1	
SLC2A11	0	LGGM	GRCh37	22	24210752	24210752	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	9	.	.	ENST00000398356.2:c.226C>T	p.Leu76Phe	p.L76F	ENST00000398356	NM_001024938.2	76	Ctc/Ttc	0	1		UPI0000001BF8	0	NA	ENST00000345044		ENSG00000133460	14239		38	0.635		HGNC	p.L69F		SLC2A11		SNV							ENST00000403208	protein_coding	getma.org/?cm=var&var=hg19,22,24210752,C,T&fts=all		Transmembrane_helices:TMhelix,Superfamily_domains:SSF103473,Pfam_domain:PF00083,Gene3D:1.20.1250.20,TIGRFAM_domain:TIGR00879,hmmpanther:PTHR24063,hmmpanther:PTHR24063:SF5,PROSITE_profiles:PS50850		L/F		T	neutral	473/3219		getma.org/?cm=msa&ty=f&p=GTR11_HUMAN&rb=15&re=471&var=L69F	tolerated(0.74)	Q8TDC5_HUMAN,Q496K8_HUMAN,B5MCM7_HUMAN				SLC2A11,missense_variant,p.Leu69Phe,ENST00000345044,;SLC2A11,missense_variant,p.Leu76Phe,ENST00000398356,NM_001024938.2,NM_030807.3;SLC2A11,missense_variant,p.Leu72Phe,ENST00000316185,NM_001024939.2;AP000350.10,missense_variant,p.Leu34Phe,ENST00000433835,;SLC2A11,missense_variant,p.Leu69Phe,ENST00000405847,;SLC2A11,missense_variant,p.Leu69Phe,ENST00000403208,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000467660,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000405286,;SLC2A11,downstream_gene_variant,,ENST00000440493,;SLC2A11,missense_variant,p.Leu69Phe,ENST00000405340,;SLC2A11,missense_variant,p.Leu69Phe,ENST00000255830,;SLC2A11,missense_variant,p.Leu76Phe,ENST00000423972,;SLC2A11,missense_variant,p.Leu72Phe,ENST00000436643,;SLC2A11,3_prime_UTR_variant,,ENST00000418102,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000461809,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000489322,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000473740,;SLC2A11,non_coding_transcript_exon_variant,,ENST00000491948,;							MODERATE	205/1491	L69F	GTR11_HUMAN			Transcript		benign(0.012)	.	ENSP00000342542		CCDS46673.1			1	
TOX3	0	LGGM	GRCh37	16	52480032	52480032	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	131	9	.	.	ENST00000219746.9:c.780A>G	p.Ser260=	p.S260=	ENST00000219746	NM_001080430.2	260	tcA/tcG	0	1	1	UPI00001972E7	0		ENST00000219746		ENSG00000103460	11972		140			HGNC	p.S260S		TOX3		SNV							ENST00000219746	protein_coding			Superfamily_domains:SSF47095,SMART_domains:SM00398,Pfam_domain:PF00505,Gene3D:1.10.30.10,hmmpanther:PTHR13711,hmmpanther:PTHR13711:SF136,PROSITE_profiles:PS50118		S		C		1065/3233				H3BTZ9_HUMAN			YES	TOX3,synonymous_variant,p.=,ENST00000219746,NM_001080430.2;TOX3,synonymous_variant,p.=,ENST00000407228,NM_001146188.1;TOX3,downstream_gene_variant,,ENST00000563091,;TOX3,upstream_gene_variant,,ENST00000566696,;							LOW	780/1731		TOX3_HUMAN			Transcript			.	ENSP00000219746		CCDS54009.1			1	
ZMYND10	0	LGGM	GRCh37	3	50379297	50379297	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	7	9	.	.	ENST00000231749.3:c.1065C>T	p.His355=	p.H355=	ENST00000231749	NM_015896.2	355	caC/caT	0	1	1	UPI0000126A0E	0		ENST00000231749		ENSG00000004838	19412		16			HGNC	p.H350H		ZMYND10		SNV			1				ENST00000360165	protein_coding			hmmpanther:PTHR13244,hmmpanther:PTHR13244:SF6,PIRSF_domain:PIRSF037948		H		A		2338/2896				C9JUQ8_HUMAN			YES	ZMYND10,synonymous_variant,p.=,ENST00000231749,NM_015896.2;ZMYND10,synonymous_variant,p.=,ENST00000360165,;RASSF1,upstream_gene_variant,,ENST00000359365,NM_170714.1,NM_001206957.1,NM_007182.4;RASSF1,upstream_gene_variant,,ENST00000357043,;RASSF1,upstream_gene_variant,,ENST00000327761,NM_170713.2;RASSF1,upstream_gene_variant,,ENST00000395126,NM_170712.2;ZMYND10,downstream_gene_variant,,ENST00000442887,;ZMYND10-AS1,intron_variant,,ENST00000440013,;ZMYND10,non_coding_transcript_exon_variant,,ENST00000490675,;RASSF1,upstream_gene_variant,,ENST00000488024,;ZMYND10,downstream_gene_variant,,ENST00000468182,;ZMYND10,non_coding_transcript_exon_variant,,ENST00000475688,;RASSF1,upstream_gene_variant,,ENST00000478619,;RASSF1,upstream_gene_variant,,ENST00000395117,;RASSF1,upstream_gene_variant,,ENST00000482447,;RASSF1,upstream_gene_variant,,ENST00000494145,;ZMYND10,downstream_gene_variant,,ENST00000443080,;ZMYND10,downstream_gene_variant,,ENST00000478269,;ZMYND10,downstream_gene_variant,,ENST00000431869,;							LOW	1065/1323		ZMY10_HUMAN			Transcript			.	ENSP00000231749		CCDS2825.1			1	
UTRN	0	LGGM	GRCh37	6	144761582	144761582	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	9	.	.	ENST00000367545.3:c.1487C>T	p.Thr496Ile	p.T496I	ENST00000367545	NM_007124.2	496	aCa/aTa	0	1	1	UPI00003673F1	0	NA	ENST00000367545		ENSG00000152818	12635		41	2.28		HGNC	p.T496I		UTRN		SNV							ENST00000367545	protein_coding	getma.org/?cm=var&var=hg19,6,144761582,C,T&fts=all		hmmpanther:PTHR11915:SF225,hmmpanther:PTHR11915,Pfam_domain:PF00435,Gene3D:1.20.58.60,SMART_domains:SM00150,PIRSF_domain:PIRSF002341,Superfamily_domains:SSF46966,Superfamily_domains:SSF46966		T/I		T	medium	1487/12339		getma.org/?cm=msa&ty=f&p=UTRO_HUMAN&rb=418&re=526&var=T496I	deleterious(0)	Q6LBS5_HUMAN,Q5SYY2_HUMAN,Q5JT45_HUMAN			YES	UTRN,missense_variant,p.Thr496Ile,ENST00000367545,NM_007124.2;							MODERATE	1487/10302	T496I	UTRO_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000356515		CCDS34547.1			1	
NSMCE4A	0	LGGM	GRCh37	10	123721030	123721030	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	9	.	.	ENST00000369023.3:c.847G>A	p.Asp283Asn	p.D283N	ENST00000369023	NM_001167865.1	283	Gat/Aat	0	1	1	UPI000013D40C	0	NA	ENST00000369023		ENSG00000107672	25935		21	0.83		HGNC	p.D283N		NSMCE4A		SNV							ENST00000369023	protein_coding	getma.org/?cm=var&var=hg19,10,123721030,C,T&fts=all		hmmpanther:PTHR16140,hmmpanther:PTHR16140:SF2		D/N		T	low	899/1394		getma.org/?cm=msa&ty=f&p=NSE4A_HUMAN&rb=80&re=377&var=D283N	tolerated(0.26)				YES	NSMCE4A,missense_variant,p.Asp124Asn,ENST00000538652,;NSMCE4A,missense_variant,p.Asp283Asn,ENST00000369023,NM_001167865.1,NM_017615.2;NSMCE4A,downstream_gene_variant,,ENST00000369017,;NSMCE4A,splice_region_variant,,ENST00000489266,;NSMCE4A,splice_region_variant,,ENST00000468209,;NSMCE4A,downstream_gene_variant,,ENST00000464321,;NSMCE4A,upstream_gene_variant,,ENST00000459911,;NSMCE4A,splice_region_variant,,ENST00000483541,;NSMCE4A,upstream_gene_variant,,ENST00000477289,;							MODERATE	847/1158	D283N	NSE4A_HUMAN			Transcript		benign(0.06)	.	ENSP00000358019		CCDS7624.1			1	
ZBTB24	0	LGGM	GRCh37	6	109803200	109803200	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	9	.	.	ENST00000230122.3:c.30G>A	p.Gly10=	p.G10=	ENST00000230122	NM_014797.2	10	ggG/ggA	0	1	1	UPI000013C924	0		ENST00000230122		ENSG00000112365	21143		30			HGNC	p.G10G		ZBTB24		SNV			1				ENST00000230122	protein_coding			hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF3		G		T		198/5519							YES	ZBTB24,synonymous_variant,p.=,ENST00000230122,NM_014797.2,NM_001164313.1;							LOW	30/2094		ZBT24_HUMAN			Transcript			.	ENSP00000230122		CCDS34509.1			1	
MUC16	0	LGGM	GRCh37	19	9003597	9003597	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	90	9	.	.	ENST00000397910.4:c.40043T>A	p.Phe13348Tyr	p.F13348Y	ENST00000397910	NM_024690.2	13348	tTc/tAc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13322&to=13432&var=F13350Y	ENST00000397910		ENSG00000181143	15582		99	2.52		HGNC	p.F13348Y		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9003597,A,T&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		F/Y		T	medium	40247/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13322&re=13432&var=F13350Y		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Phe13348Tyr,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Phe188Tyr,ENST00000599436,;MUC16,upstream_gene_variant,,ENST00000380951,;MUC16,missense_variant,p.Phe188Tyr,ENST00000601404,;MUC16,upstream_gene_variant,,ENST00000596768,;							MODERATE	40043/43524	F13350Y				Transcript		probably_damaging(1)	.	ENSP00000381008		CCDS54212.1			1	
TICRR	0	LGGM	GRCh37	15	90168262	90168262	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	9	.	.	ENST00000268138.7:c.4721G>A	p.Arg1574Gln	p.R1574Q	ENST00000268138		1574	cGa/cAa	0	1	1	UPI0000D61399	0	NA	ENST00000268138		ENSG00000140534	28704		51	2.175		HGNC	p.R1574Q	rs748669288,COSM1375346	TICRR	6.06E-05	SNV						0,1	ENST00000268138	protein_coding	getma.org/?cm=var&var=hg19,15,90168262,G,A&fts=all		hmmpanther:PTHR21556		R/Q		A	medium	4826/6771		getma.org/?cm=msa&ty=f&p=TICRR_HUMAN&rb=1546&re=1745&var=R1574Q	deleterious(0.02)				YES	TICRR,missense_variant,p.Arg1574Gln,ENST00000268138,;TICRR,missense_variant,p.Arg1573Gln,ENST00000560985,NM_152259.3;KIF7,downstream_gene_variant,,ENST00000394412,NM_198525.2;KIF7,intron_variant,,ENST00000558928,;TICRR,upstream_gene_variant,,ENST00000561095,;					0,1		MODERATE	4721/5733	R1574Q	TICRR_HUMAN			Transcript		benign(0.424)	.	ENSP00000268138	8.24E-06	CCDS10352.2			1	
L3MBTL1	0	LGGM	GRCh37	20	42161456	42161456	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	82	9	.	.	ENST00000427442.2:c.1262C>A	p.Ala421Asp	p.A421D	ENST00000427442		421	gCt/gAt	0	1	1	UPI0001E18E26	0	getma.org/pdb.php?prot=LMBL1_HUMAN&from=349&to=421&var=A353D	ENST00000427442		ENSG00000185513	15905		91	4.035		HGNC	p.A5D		L3MBTL1		SNV							ENST00000373133	protein_coding	getma.org/?cm=var&var=hg19,20,42161456,C,A&fts=all		Gene3D:2.30.30.160,Pfam_domain:PF02820,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF69,SMART_domains:SM00561,Superfamily_domains:SSF63748		A/D		A	high	1421/3157		getma.org/?cm=msa&ty=f&p=LMBL1_HUMAN&rb=349&re=421&var=A353D	deleterious(0)	B0QYN5_HUMAN,B0QYN4_HUMAN			YES	L3MBTL1,missense_variant,p.Ala139Asp,ENST00000422861,;L3MBTL1,missense_variant,p.Ala353Asp,ENST00000444063,;L3MBTL1,missense_variant,p.Ala353Asp,ENST00000373135,NM_015478.6;L3MBTL1,missense_variant,p.Ala421Asp,ENST00000427442,;L3MBTL1,missense_variant,p.Ala421Asp,ENST00000418998,NM_032107.4;L3MBTL1,missense_variant,p.Ala353Asp,ENST00000373134,;L3MBTL1,downstream_gene_variant,,ENST00000457824,;L3MBTL1,synonymous_variant,p.=,ENST00000445228,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000373133,;L3MBTL1,non_coding_transcript_exon_variant,,ENST00000497347,;L3MBTL1,intron_variant,,ENST00000485334,;L3MBTL1,downstream_gene_variant,,ENST00000430781,;L3MBTL1,upstream_gene_variant,,ENST00000483547,;							MODERATE	1262/2523	A353D	LMBL1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000402107		CCDS46602.2			1	
EEF1G	0	LGGM	GRCh37	11	62334366	62334366	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	9	.	.	ENST00000329251.4:c.769C>T	p.Pro257Ser	p.P257S	ENST00000329251	NM_001404.4	257	Cct/Tct	0	1	1	UPI00000012C3	0	NA	ENST00000329251		ENSG00000254772	3213		33	1.585		HGNC	p.P257S		EEF1G		SNV							ENST00000329251	protein_coding	getma.org/?cm=var&var=hg19,11,62334366,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11260,hmmpanther:PTHR11260:SF161		P/S		A	low	900/1523		getma.org/?cm=msa&ty=f&p=EF1G_HUMAN&rb=199&re=274&var=P257S	tolerated(0.31)	Q53YD7_HUMAN,Q2F840_HUMAN			YES	EEF1G,missense_variant,p.Pro307Ser,ENST00000378019,;EEF1G,missense_variant,p.Pro257Ser,ENST00000329251,NM_001404.4;EEF1G,downstream_gene_variant,,ENST00000532986,;EEF1G,downstream_gene_variant,,ENST00000524420,;MIR3654,3_prime_UTR_variant,,ENST00000496634,;EEF1G,non_coding_transcript_exon_variant,,ENST00000525340,;MIR3654,non_coding_transcript_exon_variant,,ENST00000526409,;							MODERATE	769/1314	P257S	EF1G_HUMAN			Transcript		benign(0.004)	.	ENSP00000331901		CCDS44626.1			1	
ATP6V1G1	0	LGGM	GRCh37	9	117359979	117359979	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	9	.	.	ENST00000374050.3:c.313G>A	p.Asp105Asn	p.D105N	ENST00000374050	NM_004888.3	105	Gac/Aac	0	1	1	UPI00001380C2	0	NA	ENST00000374050		ENSG00000136888	864		38	1.69		HGNC	p.D105N		ATP6V1G1		SNV							ENST00000374050	protein_coding	getma.org/?cm=var&var=hg19,9,117359979,G,A&fts=all		hmmpanther:PTHR12713:SF12,hmmpanther:PTHR12713,Pfam_domain:PF03179,TIGRFAM_domain:TIGR01147		D/N		A	low	406/1080		getma.org/?cm=msa&ty=f&p=VATG1_HUMAN&rb=3&re=107&var=D105N	tolerated(0.09)				YES	ATP6V1G1,missense_variant,p.Asp105Asn,ENST00000374050,NM_004888.3;							MODERATE	313/357	D105N	VATG1_HUMAN			Transcript		possibly_damaging(0.687)	.	ENSP00000363162		CCDS6807.1			1	
ACACB	0	LGGM	GRCh37	12	109703012	109703012	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	9	.	.	ENST00000338432.7:c.7040G>A	p.Ser2347Asn	p.S2347N	ENST00000338432		2347	aGc/aAc	0	1	1	UPI0000DBEEFB	0	getma.org/pdb.php?prot=ACACB_HUMAN&from=2335&to=2458&var=S2347N	ENST00000338432		ENSG00000076555	85		31	-0.1		HGNC	p.S2347N		ACACB		SNV							ENST00000377848	protein_coding	getma.org/?cm=var&var=hg19,12,109703012,G,A&fts=all		Gene3D:3.90.226.10,hmmpanther:PTHR18866,hmmpanther:PTHR18866:SF84,Superfamily_domains:SSF52096		S/N		A	neutral	7159/9360		getma.org/?cm=msa&ty=f&p=ACACB_HUMAN&rb=2335&re=2458&var=S2347N	tolerated(1)	F5H5C3_HUMAN,E9PEW7_HUMAN			YES	ACACB,missense_variant,p.Ser2347Asn,ENST00000338432,;ACACB,missense_variant,p.Ser2347Asn,ENST00000377848,NM_001093.3;ACACB,missense_variant,p.Ser2277Asn,ENST00000377854,;ACACB,3_prime_UTR_variant,,ENST00000543201,;ACACB,3_prime_UTR_variant,,ENST00000538526,;ACACB,non_coding_transcript_exon_variant,,ENST00000537279,;							MODERATE	7040/7377	S2347N	ACACB_HUMAN			Transcript		benign(0)	.	ENSP00000341044		CCDS31898.1			1	
DHX29	0	LGGM	GRCh37	5	54565441	54565441	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	9	.	.	ENST00000251636.5:c.3094G>A	p.Asp1032Asn	p.D1032N	ENST00000251636	NM_019030.2	1032	Gat/Aat	0	1	1	UPI00001AE72C	0	NA	ENST00000251636		ENSG00000067248	15815		26	0.86		HGNC	p.D1032N		DHX29		SNV							ENST00000251636	protein_coding	getma.org/?cm=var&var=hg19,5,54565441,C,T&fts=all		hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF82,Superfamily_domains:SSF52540		D/N		T	low	3243/4502		getma.org/?cm=msa&ty=f&p=DHX29_HUMAN&rb=987&re=1047&var=D1032N	deleterious(0.03)				YES	DHX29,missense_variant,p.Asp1032Asn,ENST00000251636,NM_019030.2;RP11-506H20.1,intron_variant,,ENST00000506435,;DHX29,non_coding_transcript_exon_variant,,ENST00000504778,;DHX29,downstream_gene_variant,,ENST00000513447,;							MODERATE	3094/4110	D1032N	DHX29_HUMAN			Transcript		benign(0.424)	.	ENSP00000251636		CCDS34158.1			1	
KLK2	0	LGGM	GRCh37	19	51378101	51378101	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	9	.	.	ENST00000325321.3:c.171C>T	p.Pro57=	p.P57=	ENST00000325321		57	ccC/ccT	0	1	1	UPI000004CA0C	0		ENST00000325321		ENSG00000167751	6363		22			HGNC	p.P57P		KLK2		SNV							ENST00000358049	protein_coding			Gene3D:2.40.10.10,Pfam_domain:PF00089,Prints_domain:PR00722,PROSITE_profiles:PS50240,hmmpanther:PTHR24275,hmmpanther:PTHR24275:SF15,SMART_domains:SM00020,Superfamily_domains:SSF50494		P		T		396/3019				M0R2W5_HUMAN,M0R1T3_HUMAN,M0R0M4_HUMAN,B0AZU9_HUMAN			YES	KLK2,synonymous_variant,p.=,ENST00000325321,;KLK2,synonymous_variant,p.=,ENST00000358049,NM_001002231.2,NM_005551.4;KLK2,synonymous_variant,p.=,ENST00000600690,;KLK2,5_prime_UTR_variant,,ENST00000593493,;KLK2,intron_variant,,ENST00000391810,NM_001256080.1;KLK2,upstream_gene_variant,,ENST00000599568,;AC037199.1,upstream_gene_variant,,ENST00000594218,;KLK2,non_coding_transcript_exon_variant,,ENST00000597509,;KLK2,intron_variant,,ENST00000596950,;KLK2,synonymous_variant,p.=,ENST00000597439,;KLK2,synonymous_variant,p.=,ENST00000594174,;KLK2,non_coding_transcript_exon_variant,,ENST00000600755,;KLK2,non_coding_transcript_exon_variant,,ENST00000595375,;KLK2,intron_variant,,ENST00000600866,;KLK2,intron_variant,,ENST00000599280,;KLK2,intron_variant,,ENST00000599121,;KLK2,intron_variant,,ENST00000595316,;KLK2,intron_variant,,ENST00000597727,;KLK2,upstream_gene_variant,,ENST00000595173,;KLK2,downstream_gene_variant,,ENST00000601743,;KLK2,upstream_gene_variant,,ENST00000601114,;KLK2,upstream_gene_variant,,ENST00000597461,;KLK2,upstream_gene_variant,,ENST00000595050,;KLK2,upstream_gene_variant,,ENST00000597911,;							LOW	171/786		KLK2_HUMAN			Transcript			.	ENSP00000313581		CCDS12808.1			1	
CHEK1	0	LGGM	GRCh37	11	125503087	125503087	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	9	.	.	ENST00000428830.2:c.454G>T	p.Ala152Ser	p.A152S	ENST00000428830	NM_001114121.2	152	Gca/Tca	0	1		UPI000013DBA3	0	getma.org/pdb.php?prot=CHK1_HUMAN&from=9&to=265&var=A152S	ENST00000428830		ENSG00000149554	1925		35	0.055		HGNC	p.A152S		CHEK1		SNV							ENST00000526937	protein_coding	getma.org/?cm=var&var=hg19,11,125503087,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24344,Pfam_domain:PF00069,Gene3D:1.10.510.10,SMART_domains:SM00220,Superfamily_domains:SSF56112		A/S		T	neutral	513/1845		getma.org/?cm=msa&ty=f&p=CHK1_HUMAN&rb=9&re=265&var=A152S	deleterious(0.03)	Q6W8P8_HUMAN,E9PRU7_HUMAN,E9PQW7_HUMAN,E9PM65_HUMAN,E9PKQ3_HUMAN,E9PJI4_HUMAN				CHEK1,missense_variant,p.Ala152Ser,ENST00000534070,NM_001274.5;CHEK1,missense_variant,p.Ala152Ser,ENST00000438015,NM_001244846.1,NM_001114122.2;CHEK1,missense_variant,p.Ala152Ser,ENST00000428830,NM_001114121.2;CHEK1,missense_variant,p.Ala152Ser,ENST00000524737,;CHEK1,missense_variant,p.Ala152Ser,ENST00000278916,;CHEK1,missense_variant,p.Ala168Ser,ENST00000427383,;CHEK1,missense_variant,p.Ala152Ser,ENST00000544373,;CHEK1,missense_variant,p.Ala152Ser,ENST00000527013,;CHEK1,missense_variant,p.Ala73Ser,ENST00000532669,;CHEK1,missense_variant,p.Ala152Ser,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,non_coding_transcript_exon_variant,,ENST00000531607,;CHEK1,upstream_gene_variant,,ENST00000531062,;							MODERATE	454/1431	A152S	CHK1_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000412504		CCDS8459.1			1	
RTN4	0	LGGM	GRCh37	2	55214696	55214696	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	9	.	.	ENST00000337526.6:c.3152C>T	p.Thr1051Ile	p.T1051I	ENST00000337526	NM_020532.4	1051	aCc/aTc	0	1	1	UPI000000D81D	0	NA	ENST00000337526		ENSG00000115310	14085		64	3.245		HGNC	p.T232I		RTN4		SNV							ENST00000317610	protein_coding	getma.org/?cm=var&var=hg19,2,55214696,G,A&fts=all		Pfam_domain:PF02453,PROSITE_profiles:PS50845,hmmpanther:PTHR10994,hmmpanther:PTHR10994:SF25		T/I		A	medium	3396/4790		getma.org/?cm=msa&ty=f&p=RTN4_HUMAN&rb=1005&re=1175&var=T1051I	deleterious(0)	Q53SY1_HUMAN,Q53RF4_HUMAN,Q53R94_HUMAN,C9J685_HUMAN			YES	RTN4,missense_variant,p.Thr1051Ile,ENST00000337526,NM_020532.4;RTN4,missense_variant,p.Thr845Ile,ENST00000394611,;RTN4,missense_variant,p.Thr845Ile,ENST00000357376,NM_207521.1;RTN4,missense_variant,p.Thr845Ile,ENST00000404909,;RTN4,missense_variant,p.Thr845Ile,ENST00000405240,;RTN4,missense_variant,p.Thr819Ile,ENST00000354474,;RTN4,missense_variant,p.Thr251Ile,ENST00000357732,NM_207520.1;RTN4,missense_variant,p.Thr232Ile,ENST00000317610,NM_153828.2;RTN4,missense_variant,p.Thr58Ile,ENST00000394609,NM_007008.2;RTN4,missense_variant,p.Thr204Ile,ENST00000402434,;RTN4,missense_variant,p.Thr75Ile,ENST00000438462,;RTN4,non_coding_transcript_exon_variant,,ENST00000486085,;							MODERATE	3152/3579	T1051I	RTN4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000337838		CCDS42684.1			1	
COPS2	0	LGGM	GRCh37	15	49426603	49426603	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	9	.	.	ENST00000299259.6:c.670C>T	p.Leu224Phe	p.L224F	ENST00000299259		224	Ctc/Ttc	0	1		UPI000000167F	0	getma.org/pdb.php?prot=CSN2_HUMAN&from=201&to=308&var=L217F	ENST00000388901		ENSG00000166200	30747		41	2.395		HGNC	p.L153F		COPS2		SNV							ENST00000561248	protein_coding	getma.org/?cm=var&var=hg19,15,49426603,G,A&fts=all		Gene3D:1.25.40.10,hmmpanther:PTHR10678,SMART_domains:SM00753		L/F		A	medium	723/4061		getma.org/?cm=msa&ty=f&p=CSN2_HUMAN&rb=201&re=308&var=L217F	deleterious(0)	H0YKU5_HUMAN				COPS2,missense_variant,p.Leu217Phe,ENST00000388901,NM_001143887.1,NM_004236.3;COPS2,missense_variant,p.Leu224Phe,ENST00000299259,;COPS2,missense_variant,p.Leu153Phe,ENST00000542928,;COPS2,missense_variant,p.Leu217Phe,ENST00000558843,;COPS2,missense_variant,p.Leu153Phe,ENST00000561248,;Y_RNA,downstream_gene_variant,,ENST00000363250,;COPS2,non_coding_transcript_exon_variant,,ENST00000559016,;COPS2,downstream_gene_variant,,ENST00000558545,;COPS2,upstream_gene_variant,,ENST00000560240,;							MODERATE	649/1332	L217F	CSN2_HUMAN			Transcript		possibly_damaging(0.726)	.	ENSP00000373553		CCDS32235.1			1	
MST1R	0	LGGM	GRCh37	3	49924796	49924796	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	9	.	.	ENST00000296474.3:c.4147A>T	p.Met1383Leu	p.M1383L	ENST00000296474	NM_002447.2	1383	Atg/Ttg	0	1	1	UPI000013E344	0	NA	ENST00000296474		ENSG00000164078	7381		48	0.895		HGNC	p.M1383L		MST1R		SNV							ENST00000296474	protein_coding	getma.org/?cm=var&var=hg19,3,49924796,T,A&fts=all		PIRSF_domain:PIRSF000617,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF113		M/L		A	low	4175/4536		getma.org/?cm=msa&ty=f&p=RON_HUMAN&rb=1342&re=1400&var=M1383L	tolerated_low_confidence(0.14)				YES	MST1R,missense_variant,p.Met1383Leu,ENST00000296474,NM_002447.2;MST1R,missense_variant,p.Met1334Leu,ENST00000344206,NM_001244937.1;MST1R,downstream_gene_variant,,ENST00000434765,;MST1R,downstream_gene_variant,,ENST00000440292,;MST1R,3_prime_UTR_variant,,ENST00000411578,;MST1R,downstream_gene_variant,,ENST00000463789,;MST1R,downstream_gene_variant,,ENST00000490053,;							MODERATE	4147/4203	M1383L	RON_HUMAN			Transcript		benign(0)	.	ENSP00000296474		CCDS2807.1			1	
SYT15	0	LGGM	GRCh37	10	46969403	46969403	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	9	.	.	ENST00000374321.4:c.58C>T	p.Leu20=	p.L20=	ENST00000374321	NM_031912.4	20	Ctg/Ttg	0	1	1	UPI00001AA161	0		ENST00000374321		ENSG00000204176	17167		22			HGNC	p.L20L		SYT15		SNV							ENST00000374325	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix		L		A		125/1369							YES	SYT15,synonymous_variant,p.=,ENST00000374325,NM_181519.2;SYT15,synonymous_variant,p.=,ENST00000374321,NM_031912.4;SYT15,synonymous_variant,p.=,ENST00000503753,;SYT15,intron_variant,,ENST00000374323,;SYT15,intron_variant,,ENST00000512997,;SYT15,upstream_gene_variant,,ENST00000374328,;RP11-38L15.3,downstream_gene_variant,,ENST00000506914,;							LOW	58/1266		SYT15_HUMAN			Transcript			.	ENSP00000363441		CCDS44376.1			1	
FMNL1	0	LGGM	GRCh37	17	43320529	43320529	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	9	.	.	ENST00000331495.3:c.2055C>T	p.Ser685=	p.S685=	ENST00000331495	NM_005892.3	685	tcC/tcT	0	1	1	UPI0000246EE9	0		ENST00000331495		ENSG00000184922	1212		53			HGNC	p.S263S		FMNL1		SNV							ENST00000587489	protein_coding			Pfam_domain:PF02181,PROSITE_profiles:PS51444,hmmpanther:PTHR23213,hmmpanther:PTHR23213:SF188,SMART_domains:SM00498,Superfamily_domains:SSF101447		S		T		2391/4101							YES	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,;							LOW	2055/3303		FMNL_HUMAN			Transcript			.	ENSP00000329219		CCDS11497.1			1	
CC2D2A	0	LGGM	GRCh37	4	15482376	15482376	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	9	.	.	ENST00000424120.1:c.172G>A	p.Gly58Ser	p.G58S	ENST00000424120		58	Ggc/Agc	0	1	1	UPI000023731A	0	NA	ENST00000424120		ENSG00000048342	29253		29	1.39		HGNC	p.W93X		CC2D2A		SNV			1				ENST00000511544	protein_coding	getma.org/?cm=var&var=hg19,4,15482376,G,A&fts=all				G/S		A	low	426/5249		getma.org/?cm=msa&ty=f&p=C2D2A_HUMAN&rb=5&re=1618&var=G58S	tolerated_low_confidence(0.28)	D6R9V3_HUMAN			YES	CC2D2A,stop_gained,p.Trp93Ter,ENST00000438599,;CC2D2A,stop_gained,p.Trp93Ter,ENST00000511544,NM_020785.2;CC2D2A,stop_gained,p.Trp93Ter,ENST00000503658,;CC2D2A,missense_variant,p.Gly58Ser,ENST00000424120,;CC2D2A,missense_variant,p.Gly58Ser,ENST00000413206,;CC2D2A,missense_variant,p.Gly58Ser,ENST00000503292,NM_001080522.2;CC2D2A,missense_variant,p.Gly9Ser,ENST00000389652,;CC2D2A,missense_variant,p.Gly58Ser,ENST00000512702,;CC2D2A,missense_variant,p.Gly58Ser,ENST00000515124,NM_001164720.1;CC2D2A,missense_variant,p.Gly58Ser,ENST00000507954,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000513811,;CC2D2A,non_coding_transcript_exon_variant,,ENST00000514450,;							MODERATE	172/4863	G58S	C2D2A_HUMAN			Transcript		benign(0.02)	.	ENSP00000403465		CCDS47026.1			1	
EVC2	0	LGGM	GRCh37	4	5586453	5586453	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	9	.	.	ENST00000344408.5:c.2954A>T	p.Tyr985Phe	p.Y985F	ENST00000344408	NM_147127.4	985	tAc/tTc	0	1	1	UPI00001910B5	0	NA	ENST00000344408		ENSG00000173040	19747		29	1.04		HGNC	p.Y905F		EVC2		SNV			1				ENST00000475313	protein_coding	getma.org/?cm=var&var=hg19,4,5586453,T,A&fts=all		hmmpanther:PTHR16795,hmmpanther:PTHR16795:SF11		Y/F		A	low	3008/4390		getma.org/?cm=msa&ty=f&p=LBN_HUMAN&rb=862&re=1061&var=Y985F	tolerated(0.08)	Q4W5B1_HUMAN,Q4W5A4_HUMAN			YES	EVC2,missense_variant,p.Tyr905Phe,ENST00000310917,NM_001166136.1;EVC2,missense_variant,p.Tyr985Phe,ENST00000344408,NM_147127.4;EVC2,missense_variant,p.Tyr985Phe,ENST00000344938,;EVC2,missense_variant,p.Tyr905Phe,ENST00000475313,;EVC2,3_prime_UTR_variant,,ENST00000509670,;							MODERATE	2954/3927	Y985F	LBN_HUMAN			Transcript		benign(0.025)	.	ENSP00000342144		CCDS3382.2			1	
OBSCN	0	LGGM	GRCh37	1	228475616	228475616	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	9	.	.	ENST00000570156.2:c.11053T>A	p.Cys3685Ser	p.C3685S	ENST00000570156	NM_001271223.2	3685	Tgc/Agc	0	1		UPI0001838884	0	getma.org/pdb.php?prot=OBSCN_HUMAN&from=3185&to=3269&var=C3256S	ENST00000422127		ENSG00000154358	15719		29	4.625		HGNC	p.C3440S		OBSCN		SNV							ENST00000570156	protein_coding	getma.org/?cm=var&var=hg19,1,228475616,T,A&fts=all		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		C/S		A	high	9810/24030		getma.org/?cm=msa&ty=f&p=OBSCN_HUMAN&rb=3185&re=3269&var=C3256S						OBSCN,missense_variant,p.Cys3685Ser,ENST00000570156,NM_001271223.2;OBSCN,missense_variant,p.Cys375Ser,ENST00000366707,;OBSCN,missense_variant,p.Cys3256Ser,ENST00000422127,NM_001098623.2;OBSCN,missense_variant,p.Cys3256Ser,ENST00000284548,NM_052843.3;OBSCN,missense_variant,p.Cys375Ser,ENST00000366709,;OBSCN,missense_variant,p.Cys2103Ser,ENST00000359599,;OBSCN,missense_variant,p.Cys532Ser,ENST00000483539,;OBSCN,downstream_gene_variant,,ENST00000366706,;OBSCN,downstream_gene_variant,,ENST00000366704,;							MODERATE	9766/23907	C3256S	OBSCN_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000409493		CCDS58065.1			1	
STAT4	0	LGGM	GRCh37	2	191897812	191897812	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	9	.	.	ENST00000392320.2:c.1916C>T	p.Ala639Val	p.A639V	ENST00000392320	NM_003151.3	639	gCt/gTt	0	1		UPI00000015F2	0	getma.org/pdb.php?prot=STAT4_HUMAN&from=569&to=645&var=A639V	ENST00000358470		ENSG00000138378	11365		48	1.865		HGNC	p.A639V		STAT4		SNV			1				ENST00000392320	protein_coding	getma.org/?cm=var&var=hg19,2,191897812,G,A&fts=all		Gene3D:3.30.505.10,PROSITE_profiles:PS50001,hmmpanther:PTHR11801,hmmpanther:PTHR11801:SF19,Superfamily_domains:SSF55550		A/V		A	low	2174/2769		getma.org/?cm=msa&ty=f&p=STAT4_HUMAN&rb=569&re=645&var=A639V	tolerated(0.19)	Q53S87_HUMAN,Q53RU2_HUMAN,E9PBE2_HUMAN,C9JM11_HUMAN,C9JFG0_HUMAN,B7SIX5_HUMAN				STAT4,missense_variant,p.Ala639Val,ENST00000392320,NM_003151.3;STAT4,missense_variant,p.Ala639Val,ENST00000358470,NM_001243835.1;AC067945.4,downstream_gene_variant,,ENST00000456176,;STAT4,downstream_gene_variant,,ENST00000470708,;STAT4,non_coding_transcript_exon_variant,,ENST00000495849,;STAT4,non_coding_transcript_exon_variant,,ENST00000463951,;AC067945.4,downstream_gene_variant,,ENST00000429796,;							MODERATE	1916/2247	A639V	STAT4_HUMAN			Transcript		benign(0.256)	.	ENSP00000351255		CCDS2310.1			1	
STRIP2	0	LGGM	GRCh37	7	129125649	129125649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	9	.	.	ENST00000249344.2:c.2484G>A	p.Glu828=	p.E828=	ENST00000249344	NM_020704.2	828	gaG/gaA	0	1	1	UPI00001C1E68	0		ENST00000249344		ENSG00000128578	22209		68			HGNC	p.E828E	COSM3721721	STRIP2		SNV						1	ENST00000249344	protein_coding			hmmpanther:PTHR13239,hmmpanther:PTHR13239:SF6		E		A		2524/5115				A4D1K4_HUMAN			YES	STRIP2,synonymous_variant,p.=,ENST00000249344,NM_020704.2;STRIP2,downstream_gene_variant,,ENST00000435494,NM_001134336.1;RNU1-72P,downstream_gene_variant,,ENST00000362976,;					1		LOW	2484/2505		STRP2_HUMAN			Transcript			.	ENSP00000249344		CCDS34752.1			1	
BMAL2	0	LGGM	GRCh37	12	27554580	27554580	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	9	.	.	ENST00000266503.5:c.1391A>T	p.Tyr464Phe	p.Y464F	ENST00000266503		464	tAt/tTt	0	1	1	UPI0000073439	0	getma.org/pdb.php?prot=BMAL2_HUMAN&from=381&to=469&var=Y464F	ENST00000266503		ENSG00000029153	18984		32	0.315		HGNC	p.Y427F		ARNTL2		SNV							ENST00000546179	protein_coding	getma.org/?cm=var&var=hg19,12,27554580,A,T&fts=all		Gene3D:3.30.450.20,Pfam_domain:PF14598,hmmpanther:PTHR23042,hmmpanther:PTHR23042:SF48,Superfamily_domains:SSF55785		Y/F		T	neutral	1409/2291		getma.org/?cm=msa&ty=f&p=BMAL2_HUMAN&rb=381&re=469&var=Y464F	tolerated(0.1)				YES	ARNTL2,missense_variant,p.Tyr430Phe,ENST00000544915,NM_020183.4;ARNTL2,missense_variant,p.Tyr464Phe,ENST00000266503,;ARNTL2,missense_variant,p.Tyr416Phe,ENST00000457040,;ARNTL2,missense_variant,p.Tyr427Phe,ENST00000395901,NM_001248003.1,NM_001248004.1;ARNTL2,missense_variant,p.Tyr450Phe,ENST00000311001,NM_001248002.1;ARNTL2,missense_variant,p.Tyr427Phe,ENST00000546179,NM_001248005.1;ARNTL2,missense_variant,p.Tyr416Phe,ENST00000261178,;ARNTL2,missense_variant,p.Tyr379Phe,ENST00000542388,;RP11-165P7.1,intron_variant,,ENST00000500498,;							MODERATE	1391/1911	Y464F	BMAL2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000266503		CCDS8712.1			1	
CTNNB1	0	LGGM	GRCh37	3	41280757	41280757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	9	.	.	ENST00000349496.5:c.2270G>A	p.Gly757Glu	p.G757E	ENST00000349496	NM_001904.3	757	gGg/gAg	0	1	1	UPI000012862F	0	NA	ENST00000349496		ENSG00000168036	2514		31	0.935		HGNC	p.G757E		CTNNB1		SNV			1				ENST00000396185	protein_coding	getma.org/?cm=var&var=hg19,3,41280757,G,A&fts=all		hmmpanther:PTHR23315,hmmpanther:PTHR23315:SF53		G/E		A	low	2550/3729		getma.org/?cm=msa&ty=f&p=CTNB1_HUMAN&rb=624&re=781&var=G757E	tolerated_low_confidence(0.14)	G9GAG7_HUMAN,E9PDF9_HUMAN,E7EV28_HUMAN,E7EMJ5_HUMAN,C9IZ65_HUMAN,B4DGU4_HUMAN			YES	CTNNB1,missense_variant,p.Gly757Glu,ENST00000349496,NM_001904.3;CTNNB1,missense_variant,p.Gly757Glu,ENST00000396185,NM_001098209.1;CTNNB1,missense_variant,p.Gly757Glu,ENST00000396183,NM_001098210.1;CTNNB1,missense_variant,p.Gly750Glu,ENST00000453024,;CTNNB1,missense_variant,p.Gly757Glu,ENST00000405570,;CTNNB1,non_coding_transcript_exon_variant,,ENST00000471014,;CTNNB1,downstream_gene_variant,,ENST00000482042,;CTNNB1,downstream_gene_variant,,ENST00000465552,;CTNNB1,downstream_gene_variant,,ENST00000485265,;							MODERATE	2270/2346	G757E	CTNB1_HUMAN			Transcript		benign(0.001)	.	ENSP00000344456		CCDS2694.1			1	
CDHR5	0	LGGM	GRCh37	11	618766	618766	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	9	.	.	ENST00000358353.3:c.1793G>A	p.Gly598Asp	p.G598D	ENST00000358353		598	gGt/gAt	0	1	1	UPI0000456444	0	NA	ENST00000358353		ENSG00000099834	7521		30	0.805		HGNC	p.G598D		CDHR5		SNV							ENST00000397542	protein_coding	getma.org/?cm=var&var=hg19,11,618766,C,T&fts=all				G/D		T	low	2116/3635		getma.org/?cm=msa&ty=f&p=CDHR5_HUMAN&rb=511&re=652&var=G598D	deleterious(0.04)				YES	CDHR5,missense_variant,p.Gly598Asp,ENST00000358353,;CDHR5,missense_variant,p.Gly598Asp,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,;							MODERATE	1793/2538	G598D	CDHR5_HUMAN			Transcript		benign(0.217)	.	ENSP00000351118		CCDS7707.1			1	
ZNF221	0	LGGM	GRCh37	19	44470179	44470179	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	9	.	.	ENST00000251269.5:c.525T>C	p.Cys175=	p.C175=	ENST00000251269	NM_013359.2	175	tgT/tgC	0	1		UPI000013CCF3	0		ENST00000587682		ENSG00000159905	13014		90			HGNC	p.C175C		ZNF221		SNV							ENST00000251269	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24388,hmmpanther:PTHR24388:SF3,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C		C		705/2034				Q16646_HUMAN,K7EIT6_HUMAN				ZNF221,synonymous_variant,p.=,ENST00000251269,NM_013359.2;ZNF221,synonymous_variant,p.=,ENST00000592350,;ZNF221,synonymous_variant,p.=,ENST00000587682,;ZNF221,downstream_gene_variant,,ENST00000591168,;ZNF155,upstream_gene_variant,,ENST00000590411,;							LOW	525/1854		ZN221_HUMAN			Transcript			.	ENSP00000467367		CCDS12633.1			1	
OLFML2B	0	LGGM	GRCh37	1	161976124	161976124	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	9	.	.	ENST00000294794.3:c.686T>A	p.Leu229Gln	p.L229Q	ENST00000294794	NM_015441.1	229	cTg/cAg	0	1	1	UPI00001D7DE0	0	NA	ENST00000294794		ENSG00000162745	24558		57	1.965		HGNC	p.L229Q		OLFML2B		SNV							ENST00000367940	protein_coding	getma.org/?cm=var&var=hg19,1,161976124,A,T&fts=all		hmmpanther:PTHR23192,hmmpanther:PTHR23192:SF37		L/Q		T	medium	1110/3160		getma.org/?cm=msa&ty=f&p=OLM2B_HUMAN&rb=42&re=343&var=L229Q	deleterious(0.02)	H0YEW8_HUMAN,H0YE85_HUMAN			YES	OLFML2B,missense_variant,p.Leu229Gln,ENST00000294794,NM_015441.1;OLFML2B,missense_variant,p.Leu229Gln,ENST00000367940,;							MODERATE	686/2253	L229Q	OLM2B_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000294794		CCDS1236.1			1	
MMRN1	0	LGGM	GRCh37	4	90857898	90857898	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	9	.	.	ENST00000394980.1:c.3067A>T	p.Thr1023Ser	p.T1023S	ENST00000394980		1023	Aca/Tca	0	1		UPI000013D570	0	NA	ENST00000264790		ENSG00000138722	7178		72	1.5		HGNC	p.T1023S		MMRN1		SNV							ENST00000264790	protein_coding	getma.org/?cm=var&var=hg19,4,90857898,A,T&fts=all		hmmpanther:PTHR15427:SF3,hmmpanther:PTHR15427		T/S		T	low	3138/4967		getma.org/?cm=msa&ty=f&p=MMRN1_HUMAN&rb=945&re=1044&var=T1023S	tolerated(0.09)	E7EPG1_HUMAN				MMRN1,missense_variant,p.Thr1023Ser,ENST00000394980,;MMRN1,missense_variant,p.Thr1023Ser,ENST00000264790,NM_007351.2;MMRN1,missense_variant,p.Thr765Ser,ENST00000508372,;MMRN1,intron_variant,,ENST00000394981,;							MODERATE	3067/3687	T1023S	MMRN1_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000264790		CCDS3635.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121674402	121674402	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	9	.	.	ENST00000393386.2:c.5254C>T	p.His1752Tyr	p.H1752Y	ENST00000393386	NM_001206838.1	1752	Cac/Tac	0	1	1	UPI000020F9BB	0	getma.org/pdb.php?prot=PTPRZ_HUMAN&from=1750&to=1991&var=H1752Y	ENST00000393386		ENSG00000106278	9685		76	1.01		HGNC	p.H1752Y		PTPRZ1		SNV							ENST00000393386	protein_coding	getma.org/?cm=var&var=hg19,7,121674402,C,T&fts=all		PROSITE_profiles:PS50055,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214,Pfam_domain:PF00102,Gene3D:3.90.190.10,SMART_domains:SM00194,Superfamily_domains:SSF52799		H/Y		T	low	5665/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=1750&re=1991&var=H1752Y	deleterious(0.03)				YES	PTPRZ1,missense_variant,p.His1752Tyr,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,missense_variant,p.His885Tyr,ENST00000449182,NM_001206839.1;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000468641,;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000470504,;PTPRZ1,downstream_gene_variant,,ENST00000483995,;PTPRZ1,downstream_gene_variant,,ENST00000489114,;							MODERATE	5254/6948	H1752Y	PTPRZ_HUMAN			Transcript		benign(0.014)	.	ENSP00000377047		CCDS34740.1			1	
DUOX1	0	LGGM	GRCh37	15	45433229	45433229	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	9	.	.	ENST00000321429.4:c.1526G>A	p.Arg509Gln	p.R509Q	ENST00000321429	NM_017434.3	509	cGg/cAg	0	1	1	UPI000006E50E	0	getma.org/pdb.php?prot=DUOX1_HUMAN&from=29&to=557&var=R509Q	ENST00000321429		ENSG00000137857	3062		48	2.79		HGNC	p.R509Q	rs374959193	DUOX1	0.000121	SNV	A:0						ENST00000431588	protein_coding	getma.org/?cm=var&var=hg19,15,45433229,G,A&fts=all	A:0	PROSITE_profiles:PS50292,hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF37,Gene3D:1.10.640.10,Pfam_domain:PF03098,Superfamily_domains:SSF48113		R/Q	A:0.0001	A	medium	1933/5738	3.00E-05	getma.org/?cm=msa&ty=f&p=DUOX1_HUMAN&rb=29&re=557&var=R509Q	deleterious(0)	H0YNR5_HUMAN	A:0	A:0.001	YES	DUOX1,missense_variant,p.Arg509Gln,ENST00000321429,NM_017434.3;DUOX1,missense_variant,p.Arg509Gln,ENST00000389037,NM_175940.1;DUOX1,missense_variant,p.Arg155Gln,ENST00000561166,;DUOX1,3_prime_UTR_variant,,ENST00000561220,;DUOX1,non_coding_transcript_exon_variant,,ENST00000558991,;	0.000116	A:0.0002					MODERATE	1526/4656	R509Q	DUOX1_HUMAN		A:0	Transcript		probably_damaging(0.999)	.	ENSP00000317997	4.12E-05	CCDS32221.1		A:0	1	
KMT2C	0	LGGM	GRCh37	7	151874842	151874842	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	9	.	.	ENST00000262189.6:c.7696C>T	p.Pro2566Ser	p.P2566S	ENST00000262189	NM_170606.2	2566	Cct/Tct	0	1	1	UPI0000141B9F	0	NA	ENST00000262189		ENSG00000055609	13726		53	2.125		HGNC	p.P2566S		KMT2C		SNV							ENST00000262189	protein_coding	getma.org/?cm=var&var=hg19,7,151874842,G,A&fts=all		hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF305		P/S		A	medium	7915/16862		getma.org/?cm=msa&ty=f&p=MLL3_HUMAN&rb=2267&re=2787&var=P2566S		Q6N019_HUMAN,Q75MN6_HUMAN,H0YMU7_HUMAN			YES	KMT2C,missense_variant,p.Pro2566Ser,ENST00000355193,;KMT2C,missense_variant,p.Pro2566Ser,ENST00000262189,NM_170606.2;KMT2C,missense_variant,p.Pro72Ser,ENST00000360104,;KMT2C,downstream_gene_variant,,ENST00000558665,;KMT2C,3_prime_UTR_variant,,ENST00000558084,;KMT2C,non_coding_transcript_exon_variant,,ENST00000473186,;							MODERATE	7696/14736	P2566S	KMT2C_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000262189		CCDS5931.1			1	
PTPRB	0	LGGM	GRCh37	12	71029559	71029559	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	9	.	.	ENST00000334414.6:c.343G>A	p.Gly115Ser	p.G115S	ENST00000334414	NM_001109754.2	115	Ggc/Agc	0	1	1	UPI00002294FA	0	NA	ENST00000334414		ENSG00000127329	9665		74	0.805		HGNC	p.G115S		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,71029559,C,T&fts=all		Gene3D:2.80.10.50,Superfamily_domains:SSF50370		G/S		T	low	388/11332		getma.org/?cm=msa&ty=f&p=F8VSD5_HUMAN&rb=1&re=200&var=G114S	tolerated_low_confidence(0.08)				YES	PTPRB,missense_variant,p.Gly115Ser,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Gly115Ser,ENST00000550358,;PTPRB,missense_variant,p.Gly114Ser,ENST00000551525,;PTPRB,intron_variant,,ENST00000548122,;PTPRR,downstream_gene_variant,,ENST00000283228,NM_002849.3;PTPRR,downstream_gene_variant,,ENST00000440835,NM_130846.2;PTPRR,downstream_gene_variant,,ENST00000378778,NM_001207016.1;PTPRR,downstream_gene_variant,,ENST00000342084,NM_001207015.1;PTPRR,downstream_gene_variant,,ENST00000549308,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRR,downstream_gene_variant,,ENST00000537619,;PTPRR,downstream_gene_variant,,ENST00000547752,;PTPRR,downstream_gene_variant,,ENST00000549107,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;PTPRR,downstream_gene_variant,,ENST00000551219,;							MODERATE	343/6648	G114S	PTPRB_HUMAN			Transcript		benign(0.291)	.	ENSP00000334928		CCDS44943.1			1	
MTUS1	0	LGGM	GRCh37	8	17612101	17612101	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	9	.	.	ENST00000262102.6:c.1216G>A	p.Gly406Ser	p.G406S	ENST00000262102	NM_001001924.2	406	Ggc/Agc	0	1	1	UPI000003FF3C	0	NA	ENST00000262102		ENSG00000129422	29789		26	0.55		HGNC	p.G406S		MTUS1		SNV			1				ENST00000381862	protein_coding	getma.org/?cm=var&var=hg19,8,17612101,C,T&fts=all		hmmpanther:PTHR24200,hmmpanther:PTHR24200:SF7		G/S		T	neutral	1441/6160		getma.org/?cm=msa&ty=f&p=MTUS1_HUMAN&rb=1&re=809&var=G406S	tolerated(0.15)				YES	MTUS1,missense_variant,p.Gly406Ser,ENST00000381869,NM_001001925.2;MTUS1,missense_variant,p.Gly406Ser,ENST00000262102,NM_001001924.2;MTUS1,missense_variant,p.Gly406Ser,ENST00000519263,;MTUS1,missense_variant,p.Gly406Ser,ENST00000381862,;MTUS1,downstream_gene_variant,,ENST00000518755,;MTUS1,downstream_gene_variant,,ENST00000518891,;MTUS1,missense_variant,p.Gly141Ser,ENST00000520196,;MTUS1,non_coding_transcript_exon_variant,,ENST00000523718,;							MODERATE	1216/3813	G406S	MTUS1_HUMAN			Transcript		benign(0.076)	.	ENSP00000262102		CCDS43717.1			1	
SYNE1	0	LGGM	GRCh37	6	152712411	152712411	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	10	.	.	ENST00000367255.5:c.8004+1G>A		p.X2668_splice	ENST00000367255	NM_182961.3			0	1	1	UPI000204AF58	0		ENST00000367255		ENSG00000131018	17089		49			HGNC	-		SYNE1		SNV			1				ENST00000367255	protein_coding							T		-/27748							YES	SYNE1,splice_donor_variant,,ENST00000367255,NM_182961.3;SYNE1,splice_donor_variant,,ENST00000265368,;SYNE1,splice_donor_variant,,ENST00000448038,;SYNE1,splice_donor_variant,,ENST00000423061,NM_033071.3;SYNE1,splice_donor_variant,,ENST00000341594,;SYNE1,splice_donor_variant,,ENST00000461872,;							HIGH	8004/26394		SYNE1_HUMAN			Transcript			.	ENSP00000356224		CCDS5236.2			1	
ETS1	0	LGGM	GRCh37	11	128356043	128356043	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	10	.	.	ENST00000392668.4:c.536-2A>T		p.X179_splice	ENST00000392668	NM_001143820.1			0	1		UPI000012A268	0		ENST00000319397		ENSG00000134954	3488		33			HGNC	-		ETS1		SNV							ENST00000345075	protein_coding							A		-/2231				B4DW78_HUMAN				ETS1,splice_acceptor_variant,,ENST00000392668,NM_001143820.1;ETS1,splice_acceptor_variant,,ENST00000345075,;ETS1,splice_acceptor_variant,,ENST00000526145,;ETS1,splice_acceptor_variant,,ENST00000319397,NM_005238.3;ETS1,splice_acceptor_variant,,ENST00000531611,;ETS1,intron_variant,,ENST00000535549,NM_001162422.1;ETS1,downstream_gene_variant,,ENST00000608978,;							HIGH	404/1326		ETS1_HUMAN			Transcript			.	ENSP00000324578		CCDS8475.1			1	
FAT4	0	LGGM	GRCh37	4	126336898	126336898	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	10	.	.	ENST00000394329.3:c.6780G>A	p.Glu2260=	p.E2260=	ENST00000394329	NM_024582.4	2260	gaG/gaA	0	1	1	UPI000155D6E3	0		ENST00000394329		ENSG00000196159	23109		43			HGNC	p.E2260E		FAT4		SNV			1				ENST00000394329	protein_coding			PROSITE_profiles:PS50268,hmmpanther:PTHR24026,hmmpanther:PTHR24026:SF41,Gene3D:2.60.40.60,Superfamily_domains:SSF49313,Superfamily_domains:SSF49313		E		A		6793/16123				B3KRB4_HUMAN			YES	FAT4,synonymous_variant,p.=,ENST00000394329,NM_024582.4;FAT4,synonymous_variant,p.=,ENST00000335110,;							LOW	6780/14946		FAT4_HUMAN			Transcript			.	ENSP00000377862		CCDS3732.3			1	
LMBRD2	0	LGGM	GRCh37	5	36142692	36142692	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	10	.	.	ENST00000296603.4:c.184A>T	p.Asn62Tyr	p.N62Y	ENST00000296603	NM_001007527.1	62	Aac/Tac	0	1	1	UPI00001602FC	0	NA	ENST00000296603		ENSG00000164187	25287	8.64E-05	53	1.5		HGNC	p.N62Y	rs768908876	LMBRD2		SNV							ENST00000296603	protein_coding	getma.org/?cm=var&var=hg19,5,36142692,T,A&fts=all		Pfam_domain:PF04791,hmmpanther:PTHR21355		N/Y		A	low	647/8185		getma.org/?cm=msa&ty=f&p=LMBD2_HUMAN&rb=5&re=548&var=N62Y	deleterious(0.01)	B4DTZ7_HUMAN			YES	LMBRD2,missense_variant,p.Asn62Tyr,ENST00000296603,NM_001007527.1;LMBRD2,non_coding_transcript_exon_variant,,ENST00000503535,;							MODERATE	184/2088	N62Y	LMBD2_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000296603	8.24E-06	CCDS34145.1			1	
BARHL1	0	LGGM	GRCh37	9	135464661	135464661	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	10	.	.	ENST00000263610.2:c.736G>A	p.Glu246Lys	p.E246K	ENST00000263610	NM_020064.3	246	Gag/Aag	0	1	1	UPI0000126AD2	0	NA	ENST00000263610		ENSG00000125492	953		56	1.935		HGNC	p.E246K		BARHL1		SNV							ENST00000263610	protein_coding	getma.org/?cm=var&var=hg19,9,135464661,G,A&fts=all		hmmpanther:PTHR24330:SF8,hmmpanther:PTHR24330		E/K		A	medium	1349/2341		getma.org/?cm=msa&ty=f&p=BARH1_HUMAN&rb=236&re=327&var=E246K	deleterious(0.02)				YES	BARHL1,missense_variant,p.Glu246Lys,ENST00000263610,NM_020064.3;BARHL1,missense_variant,p.Glu246Lys,ENST00000542090,;DDX31,downstream_gene_variant,,ENST00000372159,NM_022779.7;DDX31,downstream_gene_variant,,ENST00000372155,;							MODERATE	736/984	E246K	BARH1_HUMAN			Transcript		possibly_damaging(0.629)	.	ENSP00000263610		CCDS6950.1			1	
DNAH17	0	LGGM	GRCh37	17	76471766	76471766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	10	.	.	ENST00000389840.5:c.8262T>A	p.Asn2754Lys	p.N2754K	ENST00000389840		2754	aaT/aaA	0	1	1	UPI0001A5EE11	0	NA	ENST00000389840		ENSG00000187775	2946		53	1.735		HGNC	p.N2754K		DNAH17		SNV							ENST00000389840	protein_coding	getma.org/?cm=var&var=hg19,17,76471766,A,T&fts=all		hmmpanther:PTHR10676:SF228,hmmpanther:PTHR10676,Pfam_domain:PF12780		N/K		T	low	8387/13792		getma.org/?cm=msa&ty=f&p=DYH17_HUMAN&rb=2750&re=3017&var=N2754K					YES	DNAH17,missense_variant,p.Asn2754Lys,ENST00000389840,;DNAH17,missense_variant,p.Asn2763Lys,ENST00000585328,NM_173628.3;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,;DNAH17,upstream_gene_variant,,ENST00000591369,;							MODERATE	8262/13458	N2754K	DYH17_HUMAN			Transcript		benign(0.173)	.	ENSP00000374490					1	
C12orf74	0	LGGM	GRCh37	12	93100923	93100923	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	11	10	.	.	ENST00000397833.3:c.507+9G>A		*169*	ENST00000397833	NM_001178097.2			0	1	1	UPI00005DB386	0		ENST00000397833		ENSG00000214215	27887		21			HGNC	p.Q172Q		C12orf74		SNV							ENST00000544406	protein_coding							A		-/1856							YES	C12orf74,synonymous_variant,p.=,ENST00000544406,;C12orf74,intron_variant,,ENST00000397833,NM_001178097.2,NM_001037671.3;							MODIFIER	-/573		CL074_HUMAN			Transcript			.	ENSP00000380933		CCDS41819.1			1	
MRGPRX3	0	LGGM	GRCh37	11	18159336	18159336	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	10	.	.	ENST00000396275.2:c.587T>A	p.Leu196Gln	p.L196Q	ENST00000396275	NM_054031.3	196	cTg/cAg	0	1	1	UPI0000061FCF	0	NA	ENST00000396275		ENSG00000179826	17980		49	3.03		HGNC	p.L196Q		MRGPRX3		SNV							ENST00000396275	protein_coding	getma.org/?cm=var&var=hg19,11,18159336,T,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR11334:SF22,hmmpanther:PTHR11334,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/Q		A	medium	948/1639		getma.org/?cm=msa&ty=f&p=MRGX3_HUMAN&rb=44&re=272&var=L196Q	deleterious(0)	E9PPY5_HUMAN			YES	MRGPRX3,missense_variant,p.Leu196Gln,ENST00000396275,NM_054031.3;MRGPRX3,missense_variant,p.Leu196Gln,ENST00000531264,;RP11-113D6.6,downstream_gene_variant,,ENST00000527671,;							MODERATE	587/969	L196Q	MRGX3_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000379571		CCDS7830.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186908207	186908207	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	10	.	.	ENST00000367466.3:c.763C>T	p.Leu255=	p.L255=	ENST00000367466	NM_024420.2	255	Cta/Tta	0	1	1	UPI0000203D76	0		ENST00000367466		ENSG00000116711	9035		61			HGNC	p.L195L		PLA2G4A		SNV							ENST00000442353	protein_coding			Gene3D:3.40.1090.10,Pfam_domain:PF01735,PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,SMART_domains:SM00022,Superfamily_domains:SSF52151		L		T		915/2875							YES	PLA2G4A,synonymous_variant,p.=,ENST00000367466,NM_024420.2;PLA2G4A,synonymous_variant,p.=,ENST00000442353,;PLA2G4A,non_coding_transcript_exon_variant,,ENST00000466600,;							LOW	763/2250		PA24A_HUMAN			Transcript			.	ENSP00000356436		CCDS1372.1			1	
RPUSD2	0	LGGM	GRCh37	15	40866457	40866457	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	10	.	.	ENST00000315616.7:c.1635C>T	p.Asp545=	p.D545=	ENST00000315616	NM_152260.1	545	gaC/gaT	0	1	1	UPI0000163919	0		ENST00000315616		ENSG00000166133	24180		44			HGNC	p.D484D		RPUSD2		SNV							ENST00000559271	protein_coding			hmmpanther:PTHR10436,hmmpanther:PTHR10436:SF87		D		T		1673/1875				B4DWW6_HUMAN			YES	RPUSD2,synonymous_variant,p.=,ENST00000315616,NM_152260.1;RPUSD2,synonymous_variant,p.=,ENST00000559271,NM_001286407.1;							LOW	1635/1638		RUSD2_HUMAN			Transcript			.	ENSP00000323288		CCDS10061.1			1	
PIDD	0	LGGM	GRCh37	11	799474	799474	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	10	.	.	ENST00000347755.5:c.2566G>A	p.Ala856Thr	p.A856T	ENST00000347755	NM_145886.3	856	Gcc/Acc	0	1	1	UPI000045644A	0	getma.org/pdb.php?prot=PIDD_HUMAN&from=789&to=873&var=A856T	ENST00000347755		ENSG00000177595	16491		44	1.79		HGNC	p.A856T		PIDD		SNV							ENST00000347755	protein_coding	getma.org/?cm=var&var=hg19,11,799474,C,T&fts=all		PROSITE_profiles:PS50017,Pfam_domain:PF00531,Gene3D:1.10.533.10,SMART_domains:SM00005,Superfamily_domains:SSF47986		A/T		T	low	2708/2998		getma.org/?cm=msa&ty=f&p=PIDD_HUMAN&rb=789&re=873&var=A856T	deleterious(0.01)				YES	PIDD,missense_variant,p.Ala856Thr,ENST00000347755,NM_145886.3,NM_145887.3;PIDD,missense_variant,p.Ala839Thr,ENST00000411829,;SLC25A22,upstream_gene_variant,,ENST00000320230,NM_024698.5,NM_001191061.1;SLC25A22,upstream_gene_variant,,ENST00000531214,NM_001191060.1;SLC25A22,upstream_gene_variant,,ENST00000481290,;SLC25A22,upstream_gene_variant,,ENST00000531437,;SLC25A22,upstream_gene_variant,,ENST00000533385,;SLC25A22,upstream_gene_variant,,ENST00000526152,;SLC25A22,upstream_gene_variant,,ENST00000531514,;SLC25A22,upstream_gene_variant,,ENST00000527723,;SLC25A22,upstream_gene_variant,,ENST00000456706,;SLC25A22,upstream_gene_variant,,ENST00000531534,;SLC25A22,upstream_gene_variant,,ENST00000532484,;SLC25A22,upstream_gene_variant,,ENST00000528606,;SLC25A22,upstream_gene_variant,,ENST00000529066,;SLC25A22,upstream_gene_variant,,ENST00000528936,;SLC25A22,upstream_gene_variant,,ENST00000530360,;PIDD,splice_region_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,,ENST00000527127,;SLC25A22,upstream_gene_variant,,ENST00000527734,;SLC25A22,upstream_gene_variant,,ENST00000532459,;SLC25A22,upstream_gene_variant,,ENST00000525010,;SLC25A22,upstream_gene_variant,,ENST00000525644,;SLC25A22,upstream_gene_variant,,ENST00000524891,;							MODERATE	2566/2733	A856T	PIDD_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000337797		CCDS7716.1			1	
MED1	0	LGGM	GRCh37	17	37579951	37579951	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	10	.	.	ENST00000300651.6:c.975A>T	p.Thr325=	p.T325=	ENST00000300651	NM_004774.3	325	acA/acT	0	1	1	UPI0000167F57	0		ENST00000300651		ENSG00000125686	9234		54			HGNC	p.T325T		MED1		SNV							ENST00000300651	protein_coding			Pfam_domain:PF10744,hmmpanther:PTHR12881		T		A		1199/5844							YES	MED1,splice_region_variant,p.=,ENST00000300651,NM_004774.3;MED1,splice_region_variant,p.=,ENST00000394287,;MED1,splice_region_variant,,ENST00000577831,;MED1,downstream_gene_variant,,ENST00000584308,;							LOW	975/4746		MED1_HUMAN			Transcript			.	ENSP00000300651		CCDS11336.1			1	
PCDHB10	0	LGGM	GRCh37	5	140573052	140573052	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	10	.	.	ENST00000239446.4:c.927T>A	p.Tyr309Ter	p.Y309*	ENST00000239446	NM_018930.3	309	taT/taA	0	1	1	UPI0000048F2E	0	NA	ENST00000239446		ENSG00000120324	8681		57	0		HGNC	p.Y309X		PCDHB10		SNV							ENST00000239446	protein_coding	getma.org/?cm=var&var=hg19,5,140573052,T,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		Y/*		A	NA	1111/3274		NA		O95883_HUMAN			YES	PCDHB10,stop_gained,p.Tyr309Ter,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							HIGH	927/2403	Y309*	PCDBA_HUMAN			Transcript			.	ENSP00000239446		CCDS4252.1			1	
EDC3	0	LGGM	GRCh37	15	74925063	74925063	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000315127.4:c.1417C>T	p.Arg473Cys	p.R473C	ENST00000315127	NM_025083.3	473	Cgt/Tgt	0	1	1	UPI000007309A	0	getma.org/pdb.php?prot=EDC3_HUMAN&from=283&to=487&var=R473C	ENST00000315127		ENSG00000179151	26114	0.000692	38	2.095		HGNC	p.R473C	rs774528932	EDC3		SNV							ENST00000426797	protein_coding	getma.org/?cm=var&var=hg19,15,74925063,G,A&fts=all		PROSITE_profiles:PS51385,hmmpanther:PTHR13612:SF0,hmmpanther:PTHR13612,Gene3D:3.40.50.10260,Superfamily_domains:SSF64153		R/C		A	medium	1599/3763	1.50E-05	getma.org/?cm=msa&ty=f&p=EDC3_HUMAN&rb=283&re=487&var=R473C	deleterious(0)	H3BU87_HUMAN,H3BTH0_HUMAN,H3BTF8_HUMAN,H3BSQ0_HUMAN,H3BQP5_HUMAN,H3BQA1_HUMAN,H3BQ37_HUMAN,H3BPW9_HUMAN,H3BN89_HUMAN,H3BMB8_HUMAN			YES	EDC3,missense_variant,p.Arg473Cys,ENST00000315127,NM_025083.3,NM_001142444.1;EDC3,missense_variant,p.Arg473Cys,ENST00000426797,NM_001142443.1;EDC3,missense_variant,p.Arg473Cys,ENST00000568176,;CLK3,intron_variant,,ENST00000563418,;CLK3,downstream_gene_variant,,ENST00000395066,NM_001130028.1;CLK3,downstream_gene_variant,,ENST00000345005,NM_003992.4;CLK3,downstream_gene_variant,,ENST00000352989,;CLK3,downstream_gene_variant,,ENST00000348245,;CLK3,downstream_gene_variant,,ENST00000563842,;EDC3,downstream_gene_variant,,ENST00000562174,;EDC3,downstream_gene_variant,,ENST00000566219,;CLK3,downstream_gene_variant,,ENST00000566926,;EDC3,downstream_gene_variant,,ENST00000569606,;CLK3,intron_variant,,ENST00000561673,;CLK3,downstream_gene_variant,,ENST00000567805,;EDC3,3_prime_UTR_variant,,ENST00000565602,;CLK3,downstream_gene_variant,,ENST00000454830,;CLK3,downstream_gene_variant,,ENST00000569406,;CLK3,downstream_gene_variant,,ENST00000562078,;CLK3,downstream_gene_variant,,ENST00000483723,;CLK3,downstream_gene_variant,,ENST00000568232,;CLK3,downstream_gene_variant,,ENST00000564468,;CLK3,downstream_gene_variant,,ENST00000562626,;							MODERATE	1417/1527	R473C	EDC3_HUMAN			Transcript		probably_damaging(0.937)	common_variant	ENSP00000320503	7.41E-05	CCDS10267.1			1	
CCDC138	0	LGGM	GRCh37	2	109492666	109492666	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	10	.	.	ENST00000295124.4:c.1955G>A	p.Gly652Asp	p.G652D	ENST00000295124	NM_144978.1	652	gGt/gAt	0	1	1	UPI000006E2CB	0	NA	ENST00000295124		ENSG00000163006	26531		54	2.075		HGNC	p.G652D		CCDC138		SNV							ENST00000295124	protein_coding	getma.org/?cm=var&var=hg19,2,109492666,G,A&fts=all				G/D		A	medium	2015/2383		getma.org/?cm=msa&ty=f&p=CC138_HUMAN&rb=1&re=662&var=G652D	deleterious(0.02)				YES	CCDC138,missense_variant,p.Gly652Asp,ENST00000295124,NM_144978.1;CCDC138,3_prime_UTR_variant,,ENST00000412964,;CCDC138,intron_variant,,ENST00000608781,;CCDC138,3_prime_UTR_variant,,ENST00000409529,;AC073415.2,upstream_gene_variant,,ENST00000449240,;							MODERATE	1955/1998	G652D	CC138_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000295124		CCDS2080.1			1	
KCNQ5	0	LGGM	GRCh37	6	73713664	73713664	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	10	.	.	ENST00000342056.2:c.432A>T	p.Ser144=	p.S144=	ENST00000342056	NM_001160132.1	144	tcA/tcT	0	1		UPI0000167EE4	0		ENST00000370398		ENSG00000185760	6299		52			HGNC	p.S144S		KCNQ5		SNV							ENST00000370392	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF128,Gene3D:1.10.287.70,Superfamily_domains:SSF81324		S		T		541/6345								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;KCNQ5,synonymous_variant,p.=,ENST00000370392,;KCNQ5,upstream_gene_variant,,ENST00000443915,;							LOW	432/2799		KCNQ5_HUMAN			Transcript			.	ENSP00000359425		CCDS4976.1			1	
RYR2	0	LGGM	GRCh37	1	237947994	237947994	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	115	10	.	.	ENST00000366574.2:c.12982G>A	p.Ala4328Thr	p.A4328T	ENST00000366574	NM_001035.2	4328	Gca/Aca	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		125	0.145		HGNC	p.A4328T		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237947994,G,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		A/T		A	neutral	13299/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=4160&re=4332&var=A4328T		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Ala4328Thr,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Ala4312Thr,ENST00000542537,;RYR2,missense_variant,p.Ala4334Thr,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,;							MODERATE	12982/14904	A4328T	RYR2_HUMAN			Transcript		benign(0.004)	.	ENSP00000355533		CCDS55691.1			1	
LINS	0	LGGM	GRCh37	15	101115323	101115323	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000314742.8:c.500G>A	p.Ser167Asn	p.S167N	ENST00000314742	NM_001040616.2	167	aGt/aAt	0	1	1	UPI000013D795	0	NA	ENST00000314742		ENSG00000140471	30922		38	0.425		HGNC	p.S167N		LINS		SNV			1				ENST00000559577	protein_coding	getma.org/?cm=var&var=hg19,15,101115323,C,T&fts=all		hmmpanther:PTHR16057:SF1,hmmpanther:PTHR16057		S/N		T	neutral	723/4821		getma.org/?cm=msa&ty=f&p=LINES_HUMAN&rb=81&re=548&var=S167N	tolerated(1)	H3BNS6_HUMAN,H0YMQ0_HUMAN,H0YMK4_HUMAN,H0YM78_HUMAN,H0YKU3_HUMAN			YES	LINS,missense_variant,p.Ser167Asn,ENST00000314742,NM_001040616.2;LINS,missense_variant,p.Ser167Asn,ENST00000561308,;LINS,missense_variant,p.Ser48Asn,ENST00000560133,;LINS,missense_variant,p.Ser167Asn,ENST00000559736,;LINS,missense_variant,p.Ser167Asn,ENST00000559577,;LINS,missense_variant,p.Ser86Asn,ENST00000560941,;LINS,non_coding_transcript_exon_variant,,ENST00000559149,;LINS,downstream_gene_variant,,ENST00000561073,;LINS,upstream_gene_variant,,ENST00000561233,;LINS,upstream_gene_variant,,ENST00000559169,;LINS,upstream_gene_variant,,ENST00000560783,;							MODERATE	500/2274	S167N	LINES_HUMAN			Transcript		benign(0.05)	.	ENSP00000318423		CCDS10385.1			1	
ABCB4	0	LGGM	GRCh37	7	87038688	87038688	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	96	10	.	.	ENST00000265723.4:c.2945T>G	p.Phe982Cys	p.F982C	ENST00000265723	NM_000443.3	982	tTt/tGt	0	1	1	UPI000013D66B	0	getma.org/pdb.php?prot=MDR3_HUMAN&from=711&to=990&var=F982C	ENST00000265723		ENSG00000005471	45		106	3.39		HGNC	p.F935C		ABCB4		SNV			1				ENST00000358400	protein_coding	getma.org/?cm=var&var=hg19,7,87038688,A,C&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50929,hmmpanther:PTHR24221:SF172,hmmpanther:PTHR24221,Pfam_domain:PF00664,Gene3D:2hydA01,Superfamily_domains:SSF90123		F/C		C	medium	3057/4020		getma.org/?cm=msa&ty=f&p=MDR3_HUMAN&rb=711&re=990&var=F982C	deleterious(0)	Q75MQ5_HUMAN,I7D7J8_HUMAN,I7CY13_HUMAN,I7CAJ8_HUMAN,E7EQI1_HUMAN,A8HT68_HUMAN,A7J1S3_HUMAN,A7J1S1_HUMAN,A7J1Q4_HUMAN			YES	ABCB4,missense_variant,p.Phe982Cys,ENST00000265723,NM_000443.3,NM_018849.2;ABCB4,missense_variant,p.Phe982Cys,ENST00000359206,;ABCB4,missense_variant,p.Phe982Cys,ENST00000545634,;ABCB4,missense_variant,p.Phe935Cys,ENST00000358400,NM_018850.2;ABCB4,missense_variant,p.Phe935Cys,ENST00000453593,;ABCB4,upstream_gene_variant,,ENST00000467079,;							MODERATE	2945/3861	F982C	MDR3_HUMAN			Transcript		probably_damaging(0.949)	.	ENSP00000265723		CCDS5606.1			1	
HMGXB3	0	LGGM	GRCh37	5	149389761	149389761	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	10	.	.	ENST00000502717.1:c.400C>T	p.Pro134Ser	p.P134S	ENST00000502717	NM_014983.2	134	Ccc/Tcc	0	1	1	UPI00001C1E29	0	NA	ENST00000502717		ENSG00000113716	28982		48	0.975		HGNC	p.P134S		HMGXB3		SNV							ENST00000502717	protein_coding	getma.org/?cm=var&var=hg19,5,149389761,C,T&fts=all		Gene3D:1.10.30.10,hmmpanther:PTHR17609,hmmpanther:PTHR17609:SF0		P/S		T	low	864/4974		getma.org/?cm=msa&ty=f&p=HMGX3_HUMAN&rb=358&re=397&var=P380S	tolerated(0.37)	Q6P442_HUMAN			YES	HMGXB3,missense_variant,p.Pro134Ser,ENST00000503427,;HMGXB3,missense_variant,p.Pro134Ser,ENST00000502717,NM_014983.2;AC011406.2,downstream_gene_variant,,ENST00000512440,;							MODERATE	400/3879	P380S	HMGX3_HUMAN			Transcript		possibly_damaging(0.893)	.	ENSP00000421917		CCDS54935.1			1	
HYOU1	0	LGGM	GRCh37	11	118918509	118918509	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	10	.	.	ENST00000404233.3:c.2532G>A	p.Glu844=	p.E844=	ENST00000404233	NM_001130991.1	844	gaG/gaA	0	1	1	UPI0000130F72	0		ENST00000404233		ENSG00000149428	16931		34			HGNC	p.E782E	rs782319880	HYOU1		SNV							ENST00000525859	protein_coding			hmmpanther:PTHR19375:SF90,hmmpanther:PTHR19375		E		T		2657/4530	5.99E-05			J3QQH7_HUMAN,J3QLE9_HUMAN,J3QL06_HUMAN,J3KTF1_HUMAN,J3KT27_HUMAN,J3KSJ2_HUMAN,E9PJ21_HUMAN			YES	HYOU1,synonymous_variant,p.=,ENST00000404233,NM_001130991.1,NM_006389.3;HYOU1,synonymous_variant,p.=,ENST00000529972,;HYOU1,synonymous_variant,p.=,ENST00000525859,;HYOU1,downstream_gene_variant,,ENST00000543287,;HYOU1,downstream_gene_variant,,ENST00000530473,;RP11-110I1.6,downstream_gene_variant,,ENST00000531886,;HYOU1,non_coding_transcript_exon_variant,,ENST00000527738,;HYOU1,downstream_gene_variant,,ENST00000532519,;HYOU1,downstream_gene_variant,,ENST00000531694,;HYOU1,downstream_gene_variant,,ENST00000531682,;							LOW	2532/3000		HYOU1_HUMAN			Transcript			.	ENSP00000384144	3.29E-05	CCDS8408.1			1	
FBXL14	0	LGGM	GRCh37	12	1702499	1702499	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	10	.	.	ENST00000339235.3:c.734G>A	p.Gly245Asp	p.G245D	ENST00000339235	NM_152441.2	245	gGc/gAc	0	1	1	UPI000006DA06	0	NA	ENST00000339235		ENSG00000171823	28624		28	3.815		HGNC	p.G245D		FBXL14		SNV							ENST00000339235	protein_coding	getma.org/?cm=var&var=hg19,12,1702499,C,T&fts=all		Superfamily_domains:SSF52047,SMART_domains:SM00367,Pfam_domain:PF13516,Gene3D:3.80.10.10,hmmpanther:PTHR23125:SF276,hmmpanther:PTHR23125		G/D		T	high	833/2111		getma.org/?cm=msa&ty=f&p=FXL14_HUMAN&rb=193&re=251&var=G245D	deleterious(0)				YES	FBXL14,missense_variant,p.Gly245Asp,ENST00000339235,NM_152441.2;WNT5B,intron_variant,,ENST00000537031,;WNT5B,intron_variant,,ENST00000545811,;WNT5B,intron_variant,,ENST00000539198,;FBXL14,upstream_gene_variant,,ENST00000543278,;							MODERATE	734/1257	G245D	FXL14_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000344855		CCDS8509.1			1	
SYBU	0	LGGM	GRCh37	8	110587713	110587713	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	10	.	.	ENST00000422135.1:c.1414C>T	p.Pro472Ser	p.P472S	ENST00000422135	NM_001099744.1	472	Ccc/Tcc	0	1		UPI00000407AB	0	NA	ENST00000276646		ENSG00000147642	26011		40	0.69		HGNC	p.P477S		SYBU		SNV							ENST00000424158	protein_coding	getma.org/?cm=var&var=hg19,8,110587713,G,A&fts=all		Pfam_domain:PF15290,hmmpanther:PTHR16208,hmmpanther:PTHR16208:SF4		P/S		A	neutral	1572/2870		getma.org/?cm=msa&ty=f&p=SYBU_HUMAN&rb=3&re=661&var=P472S	tolerated(0.41)	E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN				SYBU,missense_variant,p.Pro469Ser,ENST00000399066,NM_001099756.1;SYBU,missense_variant,p.Pro471Ser,ENST00000533895,;SYBU,missense_variant,p.Pro472Ser,ENST00000422135,NM_001099744.1;SYBU,missense_variant,p.Pro471Ser,ENST00000419099,NM_001099743.1;SYBU,missense_variant,p.Pro472Ser,ENST00000433638,NM_017786.5,NM_001099750.1;SYBU,missense_variant,p.Pro472Ser,ENST00000440310,NM_001099752.1,NM_001099751.1;SYBU,missense_variant,p.Pro477Ser,ENST00000424158,;SYBU,missense_variant,p.Pro471Ser,ENST00000528647,;SYBU,missense_variant,p.Pro472Ser,ENST00000408908,NM_001099748.1,NM_001099747.1;SYBU,missense_variant,p.Pro471Ser,ENST00000446070,;SYBU,missense_variant,p.Pro472Ser,ENST00000276646,NM_001099754.1,NM_001099753.1;SYBU,missense_variant,p.Pro353Ser,ENST00000408889,NM_001099746.1;SYBU,missense_variant,p.Pro404Ser,ENST00000532779,;SYBU,missense_variant,p.Pro266Ser,ENST00000529175,;SYBU,missense_variant,p.Pro353Ser,ENST00000533065,NM_001099755.1;SYBU,missense_variant,p.Pro353Ser,ENST00000528331,NM_001099749.1;SYBU,missense_variant,p.Pro472Ser,ENST00000533171,NM_001099745.1;SYBU,missense_variant,p.Pro342Ser,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,;							MODERATE	1414/1992	P472S	SYBU_HUMAN			Transcript		benign(0.031)	.	ENSP00000276646		CCDS47912.1			1	
ZNF117	0	LGGM	GRCh37	7	64439277	64439277	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	10	.	.	ENST00000282869.6:c.672G>A	p.Glu224=	p.E224=	ENST00000282869	NM_015852.3	224	gaG/gaA	0	1	1	UPI000049E07A	0		ENST00000282869		ENSG00000152926	12897		55			HGNC	p.E224E		ZNF117		SNV							ENST00000282869	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF120,SMART_domains:SM00355,Superfamily_domains:SSF57667		E		T		1957/9080							YES	ZNF117,synonymous_variant,p.=,ENST00000282869,NM_015852.3;ZNF117,downstream_gene_variant,,ENST00000487644,;							LOW	672/1452		ZN117_HUMAN			Transcript			.	ENSP00000282869		CCDS43593.1			1	
MMP25	0	LGGM	GRCh37	16	3107319	3107319	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	10	.	.	ENST00000336577.4:c.847C>T	p.Pro283Ser	p.P283S	ENST00000336577	NM_022468.4	283	Ccc/Tcc	0	1	1	UPI000003DC71	0	NA	ENST00000336577		ENSG00000008516	14246		42	0.625		HGNC	p.P283S		MMP25		SNV							ENST00000336577	protein_coding	getma.org/?cm=var&var=hg19,16,3107319,C,T&fts=all		hmmpanther:PTHR10201:SF21,hmmpanther:PTHR10201,Gene3D:3.40.390.10,PIRSF_domain:PIRSF001191		P/S		T	neutral	1084/3554		getma.org/?cm=msa&ty=f&p=MMP25_HUMAN&rb=281&re=320&var=P283S	tolerated(0.82)				YES	MMP25,missense_variant,p.Pro283Ser,ENST00000336577,NM_022468.4;RP11-473M20.7,intron_variant,,ENST00000573953,;RP11-473M20.7,intron_variant,,ENST00000572574,;RP11-473M20.7,intron_variant,,ENST00000576250,;RP11-473M20.7,upstream_gene_variant,,ENST00000573130,;RP11-473M20.7,upstream_gene_variant,,ENST00000597579,;RP11-473M20.7,downstream_gene_variant,,ENST00000572427,;RP11-473M20.7,upstream_gene_variant,,ENST00000570949,;RP11-473M20.7,upstream_gene_variant,,ENST00000573878,;RP11-473M20.7,upstream_gene_variant,,ENST00000572930,;RP11-473M20.7,downstream_gene_variant,,ENST00000572222,;MMP25,downstream_gene_variant,,ENST00000570755,;MMP25,non_coding_transcript_exon_variant,,ENST00000575441,;							MODERATE	847/1689	P283S	MMP25_HUMAN			Transcript		benign(0.007)	.	ENSP00000337816		CCDS10492.1			1	
KCNC1	0	LGGM	GRCh37	11	17793247	17793247	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	10	.	.	ENST00000265969.6:c.606C>T	p.Val202=	p.V202=	ENST00000265969	NM_001112741.1	202	gtC/gtT	0	1		UPI00000557DB	0		ENST00000379472		ENSG00000129159	6233		45			HGNC	p.V202V	rs757808689	KCNC1	6.18E-05	SNV			1				ENST00000265969	protein_coding			Gene3D:1.20.120.350,Prints_domain:PR00169,hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF87,Superfamily_domains:SSF81324,Transmembrane_helices:TMhelix		V		T		636/6766								KCNC1,synonymous_variant,p.=,ENST00000379472,NM_004976.4;KCNC1,synonymous_variant,p.=,ENST00000265969,NM_001112741.1;KCNC1,upstream_gene_variant,,ENST00000525802,;							LOW	606/1536		KCNC1_HUMAN			Transcript			.	ENSP00000368785	8.24E-06	CCDS7827.1			1	
PLEKHH2	0	LGGM	GRCh37	2	43939488	43939488	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	10	.	.	ENST00000282406.4:c.2426A>T	p.Glu809Val	p.E809V	ENST00000282406	NM_172069.3	809	gAg/gTg	0	1	1	UPI000016021B	0	NA	ENST00000282406		ENSG00000152527	30506		36	1.15		HGNC	p.E809V		PLEKHH2		SNV							ENST00000282406	protein_coding	getma.org/?cm=var&var=hg19,2,43939488,A,T&fts=all		hmmpanther:PTHR22903,hmmpanther:PTHR22903:SF3,Gene3D:2.30.29.30,Superfamily_domains:SSF50729		E/V		T	low	2536/6981		getma.org/?cm=msa&ty=f&p=PKHH2_HUMAN&rb=798&re=996&var=E809V	deleterious(0.05)				YES	PLEKHH2,missense_variant,p.Glu809Val,ENST00000282406,NM_172069.3;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405000,;PLEKHH2,non_coding_transcript_exon_variant,,ENST00000405223,;							MODERATE	2426/4482	E809V	PKHH2_HUMAN			Transcript		benign(0.013)	.	ENSP00000282406		CCDS1812.1			1	
LY75	0	LGGM	GRCh37	2	160721351	160721351	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	10	.	.	ENST00000504764.1:c.2198C>A	p.Pro733Gln	p.P733Q	ENST00000504764	NM_001198759.1	733	cCa/cAa	0	1		UPI00001AE885	0	getma.org/pdb.php?prot=LY75_HUMAN&from=667&to=792&var=P733Q	ENST00000263636		ENSG00000054219	6729		43	3.175		HGNC	p.P733Q		LY75		SNV							ENST00000554112	protein_coding	getma.org/?cm=var&var=hg19,2,160721351,G,T&fts=all		Gene3D:3.10.100.10,Pfam_domain:PF00059,PROSITE_profiles:PS50041,hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00034,Superfamily_domains:SSF56436		P/Q		T	medium	2226/6886		getma.org/?cm=msa&ty=f&p=LY75_HUMAN&rb=667&re=792&var=P733Q	deleterious(0)					LY75,missense_variant,p.Pro733Gln,ENST00000263636,NM_002349.3;LY75-CD302,missense_variant,p.Pro733Gln,ENST00000504764,NM_001198759.1;LY75,missense_variant,p.Pro733Gln,ENST00000554112,;LY75-CD302,missense_variant,p.Pro733Gln,ENST00000505052,NM_001198760.1;LY75,missense_variant,p.Pro733Gln,ENST00000553424,;							MODERATE	2198/5169	P733Q	LY75_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000263636		CCDS2211.1			1	
TUBA3C	0	LGGM	GRCh37	13	19751722	19751722	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	10	.	.	ENST00000400113.3:c.401G>A	p.Gly134Asp	p.G134D	ENST00000400113	NM_006001.2	134	gGc/gAc	0	1	1	UPI0000027DB1	0		ENST00000400113		ENSG00000198033	12408		36			HGNC	p.G134D		TUBA3C		SNV							ENST00000400113	protein_coding			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF00091,Gene3D:3.40.50.1440,SMART_domains:SM00864,Superfamily_domains:SSF52490,Prints_domain:PR01161		G/D		T		506/1551			deleterious_low_confidence(0)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN			YES	TUBA3C,missense_variant,p.Gly134Asp,ENST00000400113,NM_006001.2;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;							MODERATE	401/1353		TBA3C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382982		CCDS9284.1			1	
GPR98	0	LGGM	GRCh37	5	90459640	90459640	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	10	.	.	ENST00000405460.2:c.18844A>G	p.Ser6282Gly	p.S6282G	ENST00000405460	NM_032119.3	6282	Agc/Ggc	0	1	1	UPI00002127A7	0	NA	ENST00000405460		ENSG00000164199	17416		43	2.015		HGNC	p.S1943G		GPR98		SNV			1				ENST00000425867	protein_coding	getma.org/?cm=var&var=hg19,5,90459640,A,G&fts=all		hmmpanther:PTHR11878,hmmpanther:PTHR11878:SF20		S/G		G	medium	18940/19338		getma.org/?cm=msa&ty=f&p=GPR98_HUMAN&rb=6149&re=6306&var=S6282G					YES	GPR98,missense_variant,p.Ser6282Gly,ENST00000405460,NM_032119.3;GPR98,missense_variant,p.Ser1943Gly,ENST00000425867,;							MODERATE	18844/18921	S6282G	GPR98_HUMAN			Transcript		possibly_damaging(0.483)	.	ENSP00000384582		CCDS47246.1			1	
SOS2	0	LGGM	GRCh37	14	50597428	50597428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	10	.	.	ENST00000216373.5:c.3128G>A	p.Gly1043Asp	p.G1043D	ENST00000216373	NM_006939.2	1043	gGc/gAc	0	1	1	UPI000013C6E8	0	getma.org/pdb.php?prot=SOS2_HUMAN&from=962&to=1161&var=G1043D	ENST00000216373		ENSG00000100485	11188		41	1.5		HGNC	p.G1043D		SOS2		SNV							ENST00000216373	protein_coding	getma.org/?cm=var&var=hg19,14,50597428,C,T&fts=all		hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF150		G/D		T	low	3403/5489		getma.org/?cm=msa&ty=f&p=SOS2_HUMAN&rb=962&re=1161&var=G1043D	tolerated(0.62)	B4DJ05_HUMAN			YES	SOS2,missense_variant,p.Gly1043Asp,ENST00000216373,NM_006939.2;SOS2,missense_variant,p.Gly1010Asp,ENST00000543680,;							MODERATE	3128/3999	G1043D	SOS2_HUMAN			Transcript		benign(0.065)	.	ENSP00000216373		CCDS9697.1			1	
LRBA	0	LGGM	GRCh37	4	151773204	151773204	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	10	.	.	ENST00000357115.3:c.3658A>T	p.Arg1220Ter	p.R1220*	ENST00000357115	NM_006726.4	1220	Aga/Tga	0	1	1	UPI000013E35C	0	NA	ENST00000357115		ENSG00000198589	1742		59	0		HGNC	p.R1220X		LRBA		SNV			1				ENST00000507224	protein_coding	getma.org/?cm=var&var=hg19,4,151773204,T,A&fts=all		hmmpanther:PTHR13743,hmmpanther:PTHR13743:SF64		R/*		A	NA	3902/9899		NA		Q7KZN3_HUMAN			YES	LRBA,stop_gained,p.Arg1220Ter,ENST00000535741,;LRBA,stop_gained,p.Arg1220Ter,ENST00000510413,NM_001199282.2;LRBA,stop_gained,p.Arg1220Ter,ENST00000357115,NM_006726.4;LRBA,stop_gained,p.Arg1220Ter,ENST00000507224,;LRBA,upstream_gene_variant,,ENST00000509835,;LRBA,upstream_gene_variant,,ENST00000502839,;							HIGH	3658/8592	R1220*	LRBA_HUMAN			Transcript			.	ENSP00000349629		CCDS3773.1			1	
TBPL2	0	LGGM	GRCh37	14	55903700	55903700	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	10	.	.	ENST00000247219.5:c.187C>T	p.Pro63Ser	p.P63S	ENST00000247219	NM_199047.2	63	Cca/Tca	0	1	1	UPI0000226668	0	NA	ENST00000247219		ENSG00000182521	19841		40	1.955		HGNC	p.P63S		TBPL2		SNV							ENST00000247219	protein_coding	getma.org/?cm=var&var=hg19,14,55903700,G,A&fts=all		hmmpanther:PTHR10126,hmmpanther:PTHR10126:SF17		P/S		A	medium	258/2037		getma.org/?cm=msa&ty=f&p=TBPL2_HUMAN&rb=36&re=145&var=P63S	deleterious_low_confidence(0.04)	G3V454_HUMAN			YES	TBPL2,missense_variant,p.Pro63Ser,ENST00000247219,NM_199047.2;TBPL2,5_prime_UTR_variant,,ENST00000556755,;							MODERATE	187/1128	P63S	TBPL2_HUMAN			Transcript		benign(0.327)	.	ENSP00000247219		CCDS9724.1			1	
MRPL49	0	LGGM	GRCh37	11	64893120	64893120	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	10	.	.	ENST00000279242.2:c.354+36C>T		*118*	ENST00000279242	NM_004927.3			0	1	1	UPI000000122A	0		ENST00000279242		ENSG00000149792	1176		39			HGNC	p.T130T		MRPL49		SNV							ENST00000526171	protein_coding							T		-/2019							YES	MRPL49,synonymous_variant,p.=,ENST00000526171,;MRPL49,intron_variant,,ENST00000279242,NM_004927.3;MRPL49,intron_variant,,ENST00000533943,;MRPL49,intron_variant,,ENST00000534078,;MRPL49,intron_variant,,ENST00000531705,;SYVN1,downstream_gene_variant,,ENST00000526060,;SYVN1,downstream_gene_variant,,ENST00000377190,NM_172230.2;SYVN1,downstream_gene_variant,,ENST00000294256,NM_032431.2;SYVN1,downstream_gene_variant,,ENST00000307289,;FAU,upstream_gene_variant,,ENST00000529259,;FAU,upstream_gene_variant,,ENST00000529639,NM_001997.4;FAU,upstream_gene_variant,,ENST00000531743,;FAU,upstream_gene_variant,,ENST00000527548,;FAU,upstream_gene_variant,,ENST00000434372,;FAU,upstream_gene_variant,,ENST00000526555,;FAU,upstream_gene_variant,,ENST00000279259,;FAU,upstream_gene_variant,,ENST00000525297,;MRPL49,intron_variant,,ENST00000524482,;MRPL49,intron_variant,,ENST00000528529,;SYVN1,downstream_gene_variant,,ENST00000527765,;MRPL49,intron_variant,,ENST00000532671,;MRPL49,intron_variant,,ENST00000526319,;SYVN1,intron_variant,,ENST00000530451,;SYVN1,downstream_gene_variant,,ENST00000449943,;FAU,upstream_gene_variant,,ENST00000531357,;							MODIFIER	-/501		RM49_HUMAN			Transcript			.	ENSP00000279242		CCDS8096.1			1	
ATP6V0A2	0	LGGM	GRCh37	12	124221746	124221746	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	10	.	.	ENST00000330342.3:c.966G>A	p.Lys322=	p.K322=	ENST00000330342	NM_012463.3	322	aaG/aaA	0	1	1	UPI00001AFC09	0		ENST00000330342		ENSG00000185344	18481		30			HGNC	p.K322K		ATP6V0A2		SNV			1				ENST00000330342	protein_coding			Pfam_domain:PF01496,PIRSF_domain:PIRSF001293,hmmpanther:PTHR11629,hmmpanther:PTHR11629:SF22		K		A		1214/6542				F5H847_HUMAN,F5H5F3_HUMAN,B4DQF7_HUMAN			YES	ATP6V0A2,synonymous_variant,p.=,ENST00000330342,NM_012463.3;ATP6V0A2,synonymous_variant,p.=,ENST00000504192,;ATP6V0A2,upstream_gene_variant,,ENST00000536426,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000545059,;ATP6V0A2,non_coding_transcript_exon_variant,,ENST00000540368,;							LOW	966/2571		VPP2_HUMAN			Transcript			.	ENSP00000332247		CCDS9254.1			1	
MED1	0	LGGM	GRCh37	17	37565475	37565475	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	10	.	.	ENST00000300651.6:c.2999C>G	p.Ser1000Cys	p.S1000C	ENST00000300651	NM_004774.3	1000	tCt/tGt	0	1	1	UPI0000167F57	0	NA	ENST00000300651		ENSG00000125686	9234		45	0.805		HGNC	p.S1000C		MED1		SNV							ENST00000300651	protein_coding	getma.org/?cm=var&var=hg19,17,37565475,G,C&fts=all		hmmpanther:PTHR12881		S/C		C	low	3223/5844		getma.org/?cm=msa&ty=f&p=MED1_HUMAN&rb=670&re=1228&var=S1000C	deleterious_low_confidence(0.01)				YES	MED1,missense_variant,p.Ser1000Cys,ENST00000300651,NM_004774.3;MED1,intron_variant,,ENST00000394287,;CTB-131K11.1,downstream_gene_variant,,ENST00000582842,;MED1,3_prime_UTR_variant,,ENST00000577831,;							MODERATE	2999/4746	S1000C	MED1_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000300651		CCDS11336.1			1	
GAREM	0	LGGM	GRCh37	18	29867006	29867006	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	10	.	.	ENST00000269209.6:c.1554C>T	p.Pro518=	p.P518=	ENST00000269209		518	ccC/ccT	0	1	1	UPI00005A72DA	0		ENST00000269209		ENSG00000141441	26136		47			HGNC	p.P518P		GAREM		SNV							ENST00000399218	protein_coding			hmmpanther:PTHR14454,hmmpanther:PTHR14454:SF6,Low_complexity_(Seg):seg		P		A		1558/3006							YES	GAREM,synonymous_variant,p.=,ENST00000399218,NM_001242409.1,NM_022751.2;GAREM,synonymous_variant,p.=,ENST00000269209,;GAREM,synonymous_variant,p.=,ENST00000583696,;RP11-344B2.2,upstream_gene_variant,,ENST00000579580,;GAREM,downstream_gene_variant,,ENST00000578619,;							LOW	1554/2631		GAREM_HUMAN			Transcript			.	ENSP00000269209		CCDS56057.1			1	
TLR2	0	LGGM	GRCh37	4	154626062	154626062	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	10	.	.	ENST00000260010.6:c.2003C>T	p.Pro668Leu	p.P668L	ENST00000260010	NM_003264.3	668	cCc/cTc	0	1	1	UPI0000137051	0	getma.org/pdb.php?prot=TLR2_HUMAN&from=643&to=781&var=P668L	ENST00000260010		ENSG00000137462	11848		59	2.045		HGNC	p.P668L		TLR2		SNV			1				ENST00000260010	protein_coding	getma.org/?cm=var&var=hg19,4,154626062,C,T&fts=all		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		P/L		T	medium	3411/4200		getma.org/?cm=msa&ty=f&p=TLR2_HUMAN&rb=643&re=781&var=P668L	deleterious(0.03)	K9MV98_HUMAN,C6KIA6_HUMAN			YES	TLR2,missense_variant,p.Pro668Leu,ENST00000260010,NM_003264.3;							MODERATE	2003/2355	P668L	TLR2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000260010		CCDS3784.1			1	
ODF3L1	0	LGGM	GRCh37	15	76017487	76017487	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	10	.	.	ENST00000332145.2:c.157G>A	p.Gly53Ser	p.G53S	ENST00000332145	NM_175881.3	53	Ggc/Agc	0	1	1	UPI0000074378	0	NA	ENST00000332145		ENSG00000182950	28735		40	3.18		HGNC	p.G53S		ODF3L1		SNV							ENST00000332145	protein_coding	getma.org/?cm=var&var=hg19,15,76017487,G,A&fts=all		hmmpanther:PTHR21580:SF3,hmmpanther:PTHR21580,Pfam_domain:PF07004		G/S		A	medium	380/1196		getma.org/?cm=msa&ty=f&p=OD3L1_HUMAN&rb=40&re=76&var=G53S	deleterious(0)				YES	ODF3L1,missense_variant,p.Gly53Ser,ENST00000332145,NM_175881.3;DNM1P35,downstream_gene_variant,,ENST00000501931,;							MODERATE	157/825	G53S	OD3L1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000329584		CCDS10285.1			1	
EPPK1	0	LGGM	GRCh37	8	144940682	144940682	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	10	.	.	ENST00000525985.1:c.6740A>T	p.Gln2247Leu	p.Q2247L	ENST00000525985	NM_031308.2	2247	cAg/cTg	0	1	1	UPI00006C0DF1	0	getma.org/pdb.php?prot=EPIPL_HUMAN&from=2049&to=2248&var=Q2247L	ENST00000525985		ENSG00000227184	15577		72	2.2		HGNC	p.Q2247L		EPPK1		SNV							ENST00000525985	protein_coding	getma.org/?cm=var&var=hg19,8,144940682,T,A&fts=all		Gene3D:3.90.1290.10,Pfam_domain:PF00681,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF252,SMART_domains:SM00250,Superfamily_domains:SSF75399		Q/L		A	medium	6812/7997		getma.org/?cm=msa&ty=f&p=EPIPL_HUMAN&rb=2049&re=2248&var=Q2247L		E9PPU0_HUMAN			YES	EPPK1,missense_variant,p.Gln2247Leu,ENST00000525985,NM_031308.2;							MODERATE	6740/7263	Q2247L				Transcript		possibly_damaging(0.697)	.	ENSP00000436337					1	
MTNR1B	0	LGGM	GRCh37	11	92714787	92714787	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000257068.2:c.398C>T	p.Ala133Val	p.A133V	ENST00000257068	NM_005959.3	133	gCc/gTc	0	1	1	UPI0000050408	0	getma.org/pdb.php?prot=MTR1B_HUMAN&from=57&to=308&var=A133V	ENST00000257068		ENSG00000134640	7464		38	1.925		HGNC	p.A133V		MTNR1B		SNV							ENST00000257068	protein_coding	getma.org/?cm=var&var=hg19,11,92714787,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_patterns:PS00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24242,hmmpanther:PTHR24242:SF190,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		A/V		T	medium	404/1565		getma.org/?cm=msa&ty=f&p=MTR1B_HUMAN&rb=57&re=308&var=A133V	deleterious(0.03)	Q8TEV7_HUMAN			YES	MTNR1B,missense_variant,p.Ala133Val,ENST00000257068,NM_005959.3;MTNR1B,intron_variant,,ENST00000528076,;MTNR1B,3_prime_UTR_variant,,ENST00000532482,;							MODERATE	398/1089	A133V	MTR1B_HUMAN			Transcript		possibly_damaging(0.461)	.	ENSP00000257068		CCDS8290.1			1	
KCNH5	0	LGGM	GRCh37	14	63511835	63511835	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	10	.	.	ENST00000322893.7:c.70A>T	p.Ser24Cys	p.S24C	ENST00000322893	NM_139318.4	24	Agt/Tgt	0	1	1	UPI0000039E2D	0	getma.org/pdb.php?prot=KCNH5_HUMAN&from=12&to=90&var=S24C	ENST00000322893		ENSG00000140015	6254		27	1.445		HGNC	p.S24C	COSM4051659	KCNH5		SNV						1	ENST00000420622	protein_coding	getma.org/?cm=var&var=hg19,14,63511835,T,A&fts=all		Prints_domain:PR01464,hmmpanther:PTHR10217,hmmpanther:PTHR10217:SF376		S/C		A	low	339/4175		getma.org/?cm=msa&ty=f&p=KCNH5_HUMAN&rb=12&re=90&var=S24C	deleterious(0.04)				YES	KCNH5,missense_variant,p.Ser24Cys,ENST00000322893,NM_139318.4;KCNH5,missense_variant,p.Ser24Cys,ENST00000420622,NM_172375.2;KCNH5,intron_variant,,ENST00000394968,;KCNH5,intron_variant,,ENST00000394964,;					1		MODERATE	70/2967	S24C	KCNH5_HUMAN			Transcript		benign(0.002)	.	ENSP00000321427		CCDS9756.1			1	
CDH11	0	LGGM	GRCh37	16	65022066	65022066	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	10	.	.	ENST00000268603.4:c.993G>A	p.Leu331=	p.L331=	ENST00000268603	NM_001797.2	331	ctG/ctA	0	1	1	UPI000013D7C5	0		ENST00000268603		ENSG00000140937	1750		49			HGNC	p.L331L		CDH11		SNV							ENST00000268603	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24027,hmmpanther:PTHR24027:SF85,SMART_domains:SM00112,Superfamily_domains:SSF49313		L		T		1609/6857				H3BUU9_HUMAN,H3BSM4_HUMAN,H3BR78_HUMAN,H3BQH2_HUMAN,H3BQB5_HUMAN,H3BPQ2_HUMAN,H3BP26_HUMAN			YES	CDH11,synonymous_variant,p.=,ENST00000394156,;CDH11,synonymous_variant,p.=,ENST00000268603,NM_001797.2;CDH11,synonymous_variant,p.=,ENST00000566827,;CDH11,downstream_gene_variant,,ENST00000567934,;CDH11,downstream_gene_variant,,ENST00000569128,;							LOW	993/2391		CAD11_HUMAN			Transcript			.	ENSP00000268603		CCDS10803.1			1	
ACKR4	0	LGGM	GRCh37	3	132319410	132319410	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	10	.	.	ENST00000249887.2:c.169G>A	p.Ala57Thr	p.A57T	ENST00000249887	NM_016557.3	57	Gca/Aca	0	1	1	UPI0000039DBA	0	NA	ENST00000249887		ENSG00000129048	1611		44	1.615		HGNC	p.A57T	COSM3774550	ACKR4		SNV						1	ENST00000249887	protein_coding	getma.org/?cm=var&var=hg19,3,132319410,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR24227:SF35,hmmpanther:PTHR24227,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		A/T		A	low	265/1914		getma.org/?cm=msa&ty=f&p=CCRL1_HUMAN&rb=1&re=57&var=A57T	deleterious(0.04)	H0Y9Z2_HUMAN			YES	ACKR4,missense_variant,p.Ala57Thr,ENST00000249887,NM_016557.3,NM_178445.2;ACAD11,intron_variant,,ENST00000264990,NM_032169.4;ACAD11,intron_variant,,ENST00000355458,;ACAD11,intron_variant,,ENST00000545291,;ACAD11,intron_variant,,ENST00000507705,;NPHP3,intron_variant,,ENST00000471702,;ACAD11,intron_variant,,ENST00000496418,;ACAD11,intron_variant,,ENST00000469042,;ACAD11,intron_variant,,ENST00000485198,;ACAD11,intron_variant,,ENST00000487024,;ACAD11,intron_variant,,ENST00000477604,;ACAD11,intron_variant,,ENST00000510100,;ACKR4,upstream_gene_variant,,ENST00000509820,;					1		MODERATE	169/1053	A57T	ACKR4_HUMAN			Transcript		benign(0.156)	.	ENSP00000249887		CCDS3075.1			1	
TRAV27	0	LGGM	GRCh37	14	22616428	22616428	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	13	10	.	.	ENST00000390457.2:c.169C>T	p.Pro57Ser	p.P57S	ENST00000390457		57	Cct/Tct	0	1	1	UPI000011D12A	0		ENST00000390457		ENSG00000211809	12125		23			HGNC	p.P57S		TRAV27		SNV							ENST00000390457	TR_V_gene			Low_complexity_(Seg):seg,PROSITE_profiles:PS50835,hmmpanther:PTHR19433,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00406,Superfamily_domains:SSF48726		P/S		T		266/425			tolerated(0.07)				YES	TRAV27,missense_variant,p.Pro57Ser,ENST00000390457,;							MODERATE	169/328					Transcript		possibly_damaging(0.763)	.	ENSP00000451735					1	
SEC16B	0	LGGM	GRCh37	1	177930844	177930844	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	10	.	.	ENST00000308284.6:c.668T>C	p.Leu223Pro	p.L223P	ENST00000308284	NM_033127.2	223	cTt/cCt	0	1	1	UPI0000203C4D	0	NA	ENST00000308284		ENSG00000120341	30301		45	1.995		HGNC	p.L223P		SEC16B		SNV							ENST00000464631	protein_coding	getma.org/?cm=var&var=hg19,1,177930844,A,G&fts=all		hmmpanther:PTHR13402,hmmpanther:PTHR13402:SF8,Low_complexity_(Seg):seg		L/P		G	medium	758/3985		getma.org/?cm=msa&ty=f&p=SC16B_HUMAN&rb=201&re=277&var=L223P	deleterious(0)				YES	SEC16B,missense_variant,p.Leu223Pro,ENST00000308284,NM_033127.2;SEC16B,missense_variant,p.Leu223Pro,ENST00000464631,;SEC16B,upstream_gene_variant,,ENST00000527976,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000354921,;SEC16B,missense_variant,p.Leu223Pro,ENST00000528461,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000466953,;RP4-798P15.3,non_coding_transcript_exon_variant,,ENST00000464428,;SEC16B,upstream_gene_variant,,ENST00000526773,;							MODERATE	668/3183	L223P	SC16B_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000308339		CCDS44281.1			1	
DGCR8	0	LGGM	GRCh37	22	20073750	20073750	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000351989.3:c.264C>T	p.Asp88=	p.D88=	ENST00000351989	NM_022720.6	88	gaC/gaT	0	1	1	UPI0000129225	0		ENST00000351989		ENSG00000128191	2847		38			HGNC	p.D88D		DGCR8		SNV							ENST00000457069	protein_coding			hmmpanther:PTHR13482,hmmpanther:PTHR13482:SF2		D		T		693/4514				C9JSD5_HUMAN			YES	DGCR8,synonymous_variant,p.=,ENST00000351989,NM_022720.6;DGCR8,synonymous_variant,p.=,ENST00000383024,NM_001190326.1;DGCR8,synonymous_variant,p.=,ENST00000407755,;DGCR8,synonymous_variant,p.=,ENST00000457069,;MIR3618,downstream_gene_variant,,ENST00000580330,;MIR1306,downstream_gene_variant,,ENST00000408439,;DGCR8,non_coding_transcript_exon_variant,,ENST00000495826,;DGCR8,upstream_gene_variant,,ENST00000498171,;							LOW	264/2322		DGCR8_HUMAN			Transcript			.	ENSP00000263209		CCDS13773.1			1	
FAM208B	0	LGGM	GRCh37	10	5762721	5762721	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	10	.	.	ENST00000328090.5:c.30T>C	p.Leu10=	p.L10=	ENST00000328090	NM_017782.4	10	ctT/ctC	0	1	1	UPI00004589BB	0		ENST00000328090		ENSG00000108021	23484		43			HGNC	p.L10L		FAM208B		SNV							ENST00000328090	protein_coding			hmmpanther:PTHR16207,hmmpanther:PTHR16207:SF10		L		C		655/8626							YES	FAM208B,synonymous_variant,p.=,ENST00000328090,NM_017782.4;FAM208B,downstream_gene_variant,,ENST00000496681,;RP11-336A10.2,intron_variant,,ENST00000411512,;FAM208B,downstream_gene_variant,,ENST00000480839,;							LOW	30/7293		F208B_HUMAN			Transcript			.	ENSP00000328426		CCDS41485.1			1	
PIP4K2C	0	LGGM	GRCh37	12	57985232	57985232	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	10	.	.	ENST00000354947.5:c.160G>A	p.Gly54Ser	p.G54S	ENST00000354947		54	Ggc/Agc	0	1	1	UPI000003F553	0	getma.org/pdb.php?prot=PI42C_HUMAN&from=43&to=420&var=G54S	ENST00000354947		ENSG00000166908	23786		44	3.815		HGNC	p.G54S		PIP4K2C		SNV							ENST00000550095	protein_coding	getma.org/?cm=var&var=hg19,12,57985232,G,A&fts=all		PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF35,Gene3D:2gk9B01,Superfamily_domains:SSF56104		G/S		A	high	176/2924		getma.org/?cm=msa&ty=f&p=PI42C_HUMAN&rb=43&re=420&var=G54S	deleterious(0.01)	F8VU68_HUMAN			YES	PIP4K2C,missense_variant,p.Gly54Ser,ENST00000354947,;PIP4K2C,missense_variant,p.Gly54Ser,ENST00000540759,NM_001146259.1,NM_001146258.1,NM_024779.4;PIP4K2C,missense_variant,p.Gly54Ser,ENST00000422156,NM_001146260.1;PIP4K2C,missense_variant,p.Gly54Ser,ENST00000550465,;PIP4K2C,intron_variant,,ENST00000551772,;KIF5A,downstream_gene_variant,,ENST00000455537,NM_004984.2;PIP4K2C,missense_variant,p.Gly54Ser,ENST00000550095,;PIP4K2C,intron_variant,,ENST00000550360,;							MODERATE	160/1266	G54S	PI42C_HUMAN			Transcript		benign(0.238)	.	ENSP00000347032		CCDS8946.1			1	
ZP4	0	LGGM	GRCh37	1	238045758	238045758	+	splice_region_variant,intron_variant,non_coding_transcript_variant	Splice_Region	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	76	10	.	.	ENST00000450451.1:n.308-8C>T		p.X103_splice	ENST00000450451				0	1	1	UPI000006F0E4	0		ENST00000366570		ENSG00000116996	15770		86			HGNC	p.K529K		ZP4		SNV							ENST00000366570	protein_coding					K		T		1746/1799							YES	ZP4,synonymous_variant,p.=,ENST00000366570,NM_021186.3;RP11-193H5.1,splice_region_variant,,ENST00000450451,;							LOW	1587/1623		ZP4_HUMAN			Transcript			.	ENSP00000355529		CCDS1615.1			1	
XKR3	0	LGGM	GRCh37	22	17288636	17288636	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	10	.	.	ENST00000331428.5:c.328A>T	p.Ile110Phe	p.I110F	ENST00000331428	NM_175878.3	110	Att/Ttt	0	1	1	UPI000013EFAE	0	NA	ENST00000331428		ENSG00000172967	28778		57	1.24		HGNC	p.I110F		XKR3		SNV							ENST00000331428	protein_coding	getma.org/?cm=var&var=hg19,22,17288636,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR14297,hmmpanther:PTHR14297:SF7,Pfam_domain:PF09815		I/F		A	low	431/1690		getma.org/?cm=msa&ty=f&p=XKR3_HUMAN&rb=33&re=403&var=I110F	deleterious(0.03)				YES	XKR3,missense_variant,p.Ile110Phe,ENST00000331428,NM_175878.3;							MODERATE	328/1380	I110F	XKR3_HUMAN			Transcript		benign(0.128)	.	ENSP00000331704		CCDS42975.1			1	
CEACAM16	0	LGGM	GRCh37	19	45208914	45208914	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	10	.	.	ENST00000587331.1:c.716C>T	p.Thr239Ile	p.T239I	ENST00000587331	NM_001039213.2	239	aCc/aTc	0	1		UPI00001D8176	0	NA	ENST00000405314		ENSG00000213892	31948		47	1.175		HGNC	p.T239I		CEACAM16		SNV			1				ENST00000405314	protein_coding	getma.org/?cm=var&var=hg19,19,45208914,C,T&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR19955,hmmpanther:PTHR19955:SF127,SMART_domains:SM00409		T/I		T	low	813/1583		getma.org/?cm=msa&ty=f&p=CEA16_HUMAN&rb=289&re=372&var=T298I	deleterious(0.02)					CEACAM16,missense_variant,p.Thr239Ile,ENST00000587331,NM_001039213.2;CEACAM16,missense_variant,p.Thr239Ile,ENST00000405314,;CTB-171A8.1,intron_variant,,ENST00000590796,;							MODERATE	716/1278	T298I	CEA16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000385576		CCDS54278.1			1	
RP11-563J2.2	0	LGGM	GRCh37	10	6370013	6370013	+	non_coding_transcript_exon_variant	RNA	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	10	.	.	ENST00000399868.2:n.338C>T		*113*	ENST00000399868				0	1	1		0		ENST00000399868		ENSG00000215244			46			Clone_based_vega_gene	p.P100L	rs769479493	RP11-563J2.2		SNV							ENST00000399868	lincRNA							T		338/3086							YES	RP11-563J2.2,non_coding_transcript_exon_variant,,ENST00000399868,;							MODIFIER						Transcript			.						1	
FMOD	0	LGGM	GRCh37	1	203316521	203316521	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	10	.	.	ENST00000354955.4:c.878G>A	p.Ser293Asn	p.S293N	ENST00000354955	NM_002023.4	293	aGc/aAc	0	1	1	UPI00000746A2	0	getma.org/pdb.php?prot=FMOD_HUMAN&from=244&to=305&var=S293N	ENST00000354955		ENSG00000122176	3774		51	1.985		HGNC	p.S293N		FMOD		SNV							ENST00000354955	protein_coding	getma.org/?cm=var&var=hg19,1,203316521,C,T&fts=all		hmmpanther:PTHR24371:SF11,hmmpanther:PTHR24371,Gene3D:3.80.10.10,Pfam_domain:PF13855,SMART_domains:SM00369,SMART_domains:SM00364,Superfamily_domains:SSF52058		S/N		T	medium	1342/3310		getma.org/?cm=msa&ty=f&p=FMOD_HUMAN&rb=244&re=305&var=S293N	deleterious(0)	Q12833_HUMAN,B4E1J3_HUMAN			YES	FMOD,missense_variant,p.Ser293Asn,ENST00000354955,NM_002023.4;FMOD,intron_variant,,ENST00000493296,;FMOD,intron_variant,,ENST00000461936,;							MODERATE	878/1131	S293N	FMOD_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000347041		CCDS30976.1			1	
EPHB3	0	LGGM	GRCh37	3	184290857	184290857	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000330394.2:c.749T>C	p.Val250Ala	p.V250A	ENST00000330394	NM_004443.3	250	gTg/gCg	0	1	1	UPI0000161C94	0	getma.org/pdb.php?prot=EPHB3_HUMAN&from=213&to=273&var=V250A	ENST00000330394		ENSG00000182580	3394		38	1.355		HGNC	p.V250A		EPHB3		SNV							ENST00000330394	protein_coding	getma.org/?cm=var&var=hg19,3,184290857,T,C&fts=all		PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120		V/A		C	low	1201/4236		getma.org/?cm=msa&ty=f&p=EPHB3_HUMAN&rb=213&re=273&var=V250A	tolerated(0.76)	D3DNT9_HUMAN			YES	EPHB3,missense_variant,p.Val250Ala,ENST00000330394,NM_004443.3;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,upstream_gene_variant,,ENST00000482987,;							MODERATE	749/2997	V250A	EPHB3_HUMAN			Transcript		benign(0.049)	.	ENSP00000332118		CCDS3268.1			1	
GP2	0	LGGM	GRCh37	16	20328674	20328674	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	10	.	.	ENST00000381362.4:c.1286C>T	p.Thr429Ile	p.T429I	ENST00000381362	NM_001007240.1	429	aCc/aTc	0	1	1	UPI000059D333	0	NA	ENST00000381362		ENSG00000169347	4441		24	2.995		HGNC	p.T429I		GP2		SNV							ENST00000381362	protein_coding	getma.org/?cm=var&var=hg19,16,20328674,G,A&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF129,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241		T/I		A	medium	1363/2425		getma.org/?cm=msa&ty=f&p=GP2_HUMAN&rb=228&re=480&var=T429I	deleterious(0)	I3L2Z7_HUMAN			YES	GP2,missense_variant,p.Thr426Ile,ENST00000302555,;GP2,missense_variant,p.Thr429Ile,ENST00000381362,NM_001007240.1,NM_001502.2;GP2,missense_variant,p.Thr282Ile,ENST00000381360,NM_001007241.1;GP2,missense_variant,p.Thr279Ile,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,;							MODERATE	1286/1614	T429I	GP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000370767		CCDS42128.1			1	
AADACL2	0	LGGM	GRCh37	3	151474837	151474837	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	10	.	.	ENST00000356517.3:c.661G>T	p.Gly221Cys	p.G221C	ENST00000356517	NM_207365.3	221	Ggc/Tgc	0	1	1	UPI000015F144	0	getma.org/pdb.php?prot=ADCL2_HUMAN&from=107&to=275&var=G221C	ENST00000356517		ENSG00000197953	24427		89	1.665		HGNC	p.G221C		AADACL2		SNV							ENST00000356517	protein_coding	getma.org/?cm=var&var=hg19,3,151474837,G,T&fts=all		hmmpanther:PTHR23024,hmmpanther:PTHR23024:SF104,Pfam_domain:PF07859,Gene3D:3.40.50.1820,PIRSF_domain:PIRSF037251,Superfamily_domains:SSF53474		G/C		T	low	770/1487		getma.org/?cm=msa&ty=f&p=ADCL2_HUMAN&rb=107&re=275&var=G221C	deleterious(0.03)				YES	AADACL2,missense_variant,p.Gly221Cys,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,;							MODERATE	661/1206	G221C	ADCL2_HUMAN			Transcript		benign(0.159)	.	ENSP00000348911		CCDS3161.2			1	
CKMT1A	0	LGGM	GRCh37	15	43990918	43990918	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	10	.	.	ENST00000413453.2:c.1091G>A	p.Gly364Asp	p.G364D	ENST00000413453		364	gGc/gAc	0	1	1	UPI000012DCCE	0		ENST00000413453		ENSG00000223572	31736		58			HGNC	p.G364D		CKMT1A		SNV							ENST00000434505	protein_coding			Superfamily_domains:SSF55931,Pfam_domain:PF00217,Gene3D:3.30.590.10,hmmpanther:PTHR11547:SF24,hmmpanther:PTHR11547,PROSITE_profiles:PS51510,Low_complexity_(Seg):seg		G/D		A		1615/1911			tolerated(0.21)	C9JSQ1_HUMAN,C9JJX8_HUMAN,C9J995_HUMAN,C9J8F6_HUMAN			YES	CKMT1A,missense_variant,p.Gly364Asp,ENST00000413453,;CKMT1A,missense_variant,p.Gly364Asp,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,;							MODERATE	1091/1254		KCRU_HUMAN			Transcript		benign(0.106)	.	ENSP00000406577		CCDS32217.1			1	
MURC	0	LGGM	GRCh37	9	103348248	103348248	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	10	.	.	ENST00000307584.5:c.610A>T	p.Lys204Ter	p.K204*	ENST00000307584	NM_001018116.2	204	Aaa/Taa	0	1	1	UPI000004CC0D	0	NA	ENST00000307584		ENSG00000170681	33742		61	0		HGNC	p.K204X		MURC		SNV							ENST00000307584	protein_coding	getma.org/?cm=var&var=hg19,9,103348248,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF15237,hmmpanther:PTHR15240,hmmpanther:PTHR15240:SF4		K/*		T	NA	675/2615		NA					YES	MURC,stop_gained,p.Lys204Ter,ENST00000307584,NM_001018116.2;RN7SKP87,upstream_gene_variant,,ENST00000364096,;							HIGH	610/1095	K204*	MURC_HUMAN			Transcript			.	ENSP00000418668		CCDS35083.1			1	
MIR7-3HG	0	LGGM	GRCh37	19	4769641	4769641	+	splice_acceptor_variant,non_coding_transcript_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	10	.	.	ENST00000317292.3:n.213-1G>A		p.X71_splice	ENST00000317292				0	1	1		0		ENST00000317292		ENSG00000176840	30049		31			HGNC	p.Q47Q		MIR7-3HG		SNV							ENST00000589639	lincRNA							A		-/710							YES	MIR7-3HG,splice_acceptor_variant,,ENST00000586721,;MIR7-3HG,splice_acceptor_variant,,ENST00000592709,;MIR7-3HG,splice_acceptor_variant,,ENST00000317292,;MIR7-3HG,splice_acceptor_variant,,ENST00000588711,;MIR7-3HG,splice_acceptor_variant,,ENST00000591008,;MIR7-3HG,splice_acceptor_variant,,ENST00000540211,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000589639,;MIR7-3HG,non_coding_transcript_exon_variant,,ENST00000592663,;MIR7-3HG,intron_variant,,ENST00000588758,;MIR7-3HG,upstream_gene_variant,,ENST00000588923,;MIR7-3HG,upstream_gene_variant,,ENST00000589368,;MIR7-3,upstream_gene_variant,,ENST00000384898,;							HIGH						Transcript			.						1	
ARFGEF1	0	LGGM	GRCh37	8	68151039	68151039	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	10	.	.	ENST00000262215.3:c.3069T>C	p.Ile1023=	p.I1023=	ENST00000262215	NM_006421.4	1023	atT/atC	0	1	1	UPI000013D275	0		ENST00000262215		ENSG00000066777	15772		50			HGNC	p.I477I		ARFGEF1		SNV							ENST00000520381	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF137		I		G		3459/7225				E5RJN9_HUMAN,E5RJB2_HUMAN,E5RHZ1_HUMAN,B3KMS9_HUMAN			YES	ARFGEF1,synonymous_variant,p.=,ENST00000262215,NM_006421.4;ARFGEF1,synonymous_variant,p.=,ENST00000520381,;ARFGEF1,upstream_gene_variant,,ENST00000518230,;							LOW	3069/5550		BIG1_HUMAN			Transcript			.	ENSP00000262215		CCDS6199.1			1	
TRBV9	0	LGGM	GRCh37	7	142239972	142239972	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	10	.	.	ENST00000390363.2:c.40C>G	p.Leu14Val	p.L14V	ENST00000390363		14	Ctg/Gtg	0	1	1	UPI0000115AB8	0		ENST00000390363		ENSG00000211716	12246		51			HGNC	p.L14V		TRBV9		SNV							ENST00000390363	TR_V_gene			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23268:SF21,hmmpanther:PTHR23268		L/V		C		87/390			deleterious(0.01)	A0A580_HUMAN			YES	TRBV9,missense_variant,p.Leu14Val,ENST00000390363,;TRBV5-3,downstream_gene_variant,,ENST00000390362,;							MODERATE	40/343					Transcript		possibly_damaging(0.686)	.	ENSP00000374886					1	
UQCRFS1	0	LGGM	GRCh37	19	29698938	29698938	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	10	.	.	ENST00000304863.4:c.342C>T	p.Ser114=	p.S114=	ENST00000304863	NM_006003.2	114	tcC/tcT	0	1	1	UPI000013E9D6	0		ENST00000304863		ENSG00000169021	12587		44			HGNC	p.S114S		UQCRFS1		SNV							ENST00000304863	protein_coding			hmmpanther:PTHR10134,hmmpanther:PTHR10134:SF4,Gene3D:1.20.5.270,Pfam_domain:PF02921,Superfamily_domains:SSF81502		S		A		765/1530							YES	UQCRFS1,synonymous_variant,p.=,ENST00000304863,NM_006003.2;							LOW	342/825		UCRI_HUMAN			Transcript			.	ENSP00000306397		CCDS12415.1			1	
SHANK2	0	LGGM	GRCh37	11	70544827	70544827	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	10	.	.	ENST00000338508.4:c.1822A>T	p.Thr608Ser	p.T608S	ENST00000338508		608	Acc/Tcc	0	1		UPI000198F7E4	0	NA	ENST00000423696		ENSG00000162105	14295		42	2.015		HGNC	p.T238S		SHANK2		SNV			1				ENST00000294018	protein_coding	getma.org/?cm=var&var=hg19,11,70544827,T,A&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		T/S		A	medium	719/7884		getma.org/?cm=msa&ty=f&p=SHAN2_HUMAN&rb=205&re=246&var=T228S	deleterious(0.01)					SHANK2,missense_variant,p.Thr608Ser,ENST00000338508,;SHANK2,missense_variant,p.Thr228Ser,ENST00000423696,;SHANK2,missense_variant,p.Thr238Ser,ENST00000294018,;SHANK2,missense_variant,p.Thr17Ser,ENST00000426687,;SHANK2,non_coding_transcript_exon_variant,,ENST00000468619,;SHANK2,non_coding_transcript_exon_variant,,ENST00000470759,;SHANK2,non_coding_transcript_exon_variant,,ENST00000498519,;							MODERATE	682/4413	T228S	SHAN2_HUMAN			Transcript		benign(0.217)	.	ENSP00000394536					1	
GOLGA4	0	LGGM	GRCh37	3	37388775	37388775	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	10	.	.	ENST00000356847.4:c.6609T>C	p.Gly2203=	p.G2203=	ENST00000356847	NM_001172713.1	2203	ggT/ggC	0	1		UPI000012B8DE	0		ENST00000361924		ENSG00000144674	4427		40			HGNC	p.G2203G	COSM186928	GOLGA4		SNV						1	ENST00000356847	protein_coding			Superfamily_domains:0044483,Gene3D:1uptF00,Pfam_domain:PF01465,PROSITE_profiles:PS50913,hmmpanther:PTHR19327,SMART_domains:SM00755		G		C		6938/7772				A8K3D5_HUMAN				GOLGA4,synonymous_variant,p.=,ENST00000361924,NM_002078.4;GOLGA4,synonymous_variant,p.=,ENST00000356847,NM_001172713.1;GOLGA4,synonymous_variant,p.=,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;					1		LOW	6564/6693		GOGA4_HUMAN			Transcript			.	ENSP00000354486		CCDS2666.1			1	
GPAA1	0	LGGM	GRCh37	8	145140870	145140870	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000355091.4:c.1708G>A	p.Ala570Thr	p.A570T	ENST00000355091	NM_003801.3	570	Gcg/Acg	0	1	1	UPI0000073ECC	0	NA	ENST00000355091		ENSG00000197858	4446		38	1.39		HGNC	p.A570T		GPAA1		SNV							ENST00000355091	protein_coding	getma.org/?cm=var&var=hg19,8,145140870,G,A&fts=all		hmmpanther:PTHR13304:SF0,hmmpanther:PTHR13304,Pfam_domain:PF04114,PIRSF_domain:PIRSF036762		A/T		A	low	1829/2078		getma.org/?cm=msa&ty=f&p=GPAA1_HUMAN&rb=124&re=621&var=A570T	tolerated(0.65)	E9PLG8_HUMAN			YES	GPAA1,missense_variant,p.Ala570Thr,ENST00000355091,NM_003801.3;GPAA1,missense_variant,p.Ala510Thr,ENST00000361036,;GPAA1,downstream_gene_variant,,ENST00000525087,;GPAA1,downstream_gene_variant,,ENST00000524418,;GPAA1,downstream_gene_variant,,ENST00000530258,;GPAA1,downstream_gene_variant,,ENST00000527144,;GPAA1,downstream_gene_variant,,ENST00000526341,;GPAA1,downstream_gene_variant,,ENST00000526233,;GPAA1,non_coding_transcript_exon_variant,,ENST00000529638,;GPAA1,non_coding_transcript_exon_variant,,ENST00000534072,;GPAA1,non_coding_transcript_exon_variant,,ENST00000530796,;GPAA1,downstream_gene_variant,,ENST00000532758,;GPAA1,downstream_gene_variant,,ENST00000528073,;GPAA1,downstream_gene_variant,,ENST00000525308,;GPAA1,downstream_gene_variant,,ENST00000529503,;GPAA1,downstream_gene_variant,,ENST00000527653,;GPAA1,downstream_gene_variant,,ENST00000530633,;GPAA1,downstream_gene_variant,,ENST00000531593,;							MODERATE	1708/1866	A570T	GPAA1_HUMAN			Transcript		benign(0.111)	.	ENSP00000347206		CCDS43776.1			1	
LACC1	0	LGGM	GRCh37	13	44455538	44455538	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	10	.	.	ENST00000441843.1:c.417G>A	p.Arg139=	p.R139=	ENST00000441843	NM_001128303.1	139	agG/agA	0	1		UPI00000746BB	0		ENST00000325686		ENSG00000179630	26789		46			HGNC	p.R139R	rs766739659	LACC1		SNV							ENST00000425906	protein_coding			hmmpanther:PTHR30616		R		A		738/4099	1.50E-05			A2A3Z5_HUMAN				LACC1,synonymous_variant,p.=,ENST00000441843,NM_001128303.1;LACC1,synonymous_variant,p.=,ENST00000325686,NM_153218.2;LACC1,synonymous_variant,p.=,ENST00000425906,;CCDC122,upstream_gene_variant,,ENST00000444614,NM_144974.3;CCDC122,upstream_gene_variant,,ENST00000476570,;							LOW	417/1293		LACC1_HUMAN			Transcript			.	ENSP00000317619	8.24E-06	CCDS9391.1			1	
CCDC63	0	LGGM	GRCh37	12	111330898	111330898	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	10	.	.	ENST00000308208.5:c.1093C>T	p.Arg365Ter	p.R365*	ENST00000308208	NM_152591.1	365	Cga/Tga	0	1	1	UPI000006F794	0	NA	ENST00000308208		ENSG00000173093	26669		30	0		HGNC	p.R365X	rs779757947	CCDC63		SNV							ENST00000308208	protein_coding	getma.org/?cm=var&var=hg19,12,111330898,C,T&fts=all		hmmpanther:PTHR21694,hmmpanther:PTHR21694:SF20		R/*		T	NA	1335/1993	1.50E-05	NA		G3V217_HUMAN,B4DY03_HUMAN			YES	CCDC63,stop_gained,p.Arg365Ter,ENST00000308208,NM_152591.1;CCDC63,stop_gained,p.Arg325Ter,ENST00000545036,NM_001286243.1;CCDC63,stop_gained,p.Arg286Ter,ENST00000552694,NM_001286244.1;							HIGH	1093/1692	R365*	CCD63_HUMAN			Transcript			.	ENSP00000312399	1.65E-05	CCDS9151.1			1	
RNF185	0	LGGM	GRCh37	22	31600539	31600539	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	10	.	.	ENST00000326132.6:c.546C>T	p.Ala182=	p.A182=	ENST00000326132	NM_152267.3	182	gcC/gcT	0	1	1	UPI0000036022	0		ENST00000326132		ENSG00000138942	26783		43			HGNC	p.A182A		RNF185		SNV							ENST00000326132	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR12313:SF3,hmmpanther:PTHR12313		A		T		705/3171							YES	RNF185,synonymous_variant,p.=,ENST00000326132,NM_152267.3;RNF185,synonymous_variant,p.=,ENST00000266252,NM_001135825.1;RNF185,synonymous_variant,p.=,ENST00000426256,;RNF185-AS1,downstream_gene_variant,,ENST00000526089,;RNF185,synonymous_variant,p.=,ENST00000518626,;RNF185,non_coding_transcript_exon_variant,,ENST00000471384,;RNF185,non_coding_transcript_exon_variant,,ENST00000494514,;							LOW	546/579		RN185_HUMAN			Transcript			.	ENSP00000320508		CCDS13890.1			1	
GM2A	0	LGGM	GRCh37	5	150646430	150646430	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	10	.	.	ENST00000357164.3:c.382C>T	p.Pro128Ser	p.P128S	ENST00000357164	NM_000405.4	128	Ccc/Tcc	0	1	1	UPI00001AEC37	0	getma.org/pdb.php?prot=SAP3_HUMAN&from=1&to=190&var=P128S	ENST00000357164		ENSG00000196743	4367		45	2.695		HGNC	p.P128S		GM2A		SNV			1				ENST00000357164	protein_coding	getma.org/?cm=var&var=hg19,5,150646430,C,T&fts=all		hmmpanther:PTHR17357,Pfam_domain:PF02221,Gene3D:2ag4A00,SMART_domains:SM00737,Superfamily_domains:0037883		P/S		T	medium	707/3896		getma.org/?cm=msa&ty=f&p=SAP3_HUMAN&rb=1&re=190&var=P128S	deleterious(0)				YES	GM2A,missense_variant,p.Pro128Ser,ENST00000357164,NM_000405.4,NM_001167607.1;GM2A,missense_variant,p.Pro87Ser,ENST00000523004,;GM2A,missense_variant,p.Pro143Ser,ENST00000523466,;							MODERATE	382/582	P128S	SAP3_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000349687		CCDS4313.1			1	
ARHGAP40	0	LGGM	GRCh37	20	37272433	37272433	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	10	.	.	ENST00000373345.4:c.1290T>A	p.Pro430=	p.P430=	ENST00000373345	NM_001164431.1	430	ccT/ccA	0	1	1	UPI0000DD8570	0		ENST00000373345		ENSG00000124143	16226		51			HGNC	p.P430P		ARHGAP40		SNV							ENST00000373345	protein_coding			Gene3D:1.10.555.10,Pfam_domain:PF00620,PROSITE_profiles:PS50238,hmmpanther:PTHR14963,hmmpanther:PTHR14963:SF4,SMART_domains:SM00324,Superfamily_domains:SSF48350		P		A		1458/2841							YES	ARHGAP40,synonymous_variant,p.=,ENST00000373345,NM_001164431.1;ARHGAP40,synonymous_variant,p.=,ENST00000243967,;ARHGAP40,upstream_gene_variant,,ENST00000373346,;ARHGAP40,upstream_gene_variant,,ENST00000414158,;							LOW	1290/1869		RHG40_HUMAN			Transcript			.	ENSP00000362442					1	
SLC4A1	0	LGGM	GRCh37	17	42330656	42330656	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	10	.	.	ENST00000262418.6:c.2141G>A	p.Gly714Glu	p.G714E	ENST00000262418	NM_000342.3	714	gGg/gAg	0	1	1	UPI00000375B8	0	NA	ENST00000262418		ENSG00000004939	11027		31	2.95		HGNC	p.G714E		SLC4A1		SNV			1				ENST00000262418	protein_coding	getma.org/?cm=var&var=hg19,17,42330656,C,T&fts=all		Pfam_domain:PF00955,Prints_domain:PR00165,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF12,Low_complexity_(Seg):seg,TIGRFAM_domain:TIGR00834,Transmembrane_helices:TMhelix		G/E		T	medium	2297/4965		getma.org/?cm=msa&ty=f&p=B3AT_HUMAN&rb=556&re=839&var=G714E	deleterious(0.03)	Q6LDU9_HUMAN,P78488_HUMAN,E2RVJ0_HUMAN,E2J824_HUMAN			YES	SLC4A1,missense_variant,p.Gly714Glu,ENST00000262418,NM_000342.3;AC003102.1,upstream_gene_variant,,ENST00000399246,;AC003043.1,upstream_gene_variant,,ENST00000597382,;SLC4A1,downstream_gene_variant,,ENST00000497360,;							MODERATE	2141/2736	G714E	B3AT_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000262418		CCDS11481.1			1	
CACNB3	0	LGGM	GRCh37	12	49220843	49220843	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	10	.	.	ENST00000301050.2:c.1077C>A	p.Ala359=	p.A359=	ENST00000301050	NM_000725.3	359	gcC/gcA	0	1	1	UPI000000D9BA	0		ENST00000301050		ENSG00000167535	1403		38			HGNC	p.A346A		CACNB3		SNV							ENST00000540990	protein_coding			Gene3D:3.40.50.300,hmmpanther:PTHR11824,Superfamily_domains:SSF52540		A		A		1276/2696				F8VUW8_HUMAN,F8VU10_HUMAN			YES	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,intron_variant,,ENST00000550190,;DDX23,downstream_gene_variant,,ENST00000308025,NM_004818.2;CACNB3,downstream_gene_variant,,ENST00000547818,;DDX23,downstream_gene_variant,,ENST00000550834,;CACNB3,downstream_gene_variant,,ENST00000550064,;CACNB3,downstream_gene_variant,,ENST00000548279,;CACNB3,downstream_gene_variant,,ENST00000550168,;CACNB3,downstream_gene_variant,,ENST00000552022,;CACNB3,downstream_gene_variant,,ENST00000549971,;CACNB3,3_prime_UTR_variant,,ENST00000551544,;CACNB3,non_coding_transcript_exon_variant,,ENST00000548860,;CACNB3,non_coding_transcript_exon_variant,,ENST00000552480,;CACNB3,downstream_gene_variant,,ENST00000549226,;CACNB3,downstream_gene_variant,,ENST00000550391,;CACNB3,downstream_gene_variant,,ENST00000550483,;DDX23,downstream_gene_variant,,ENST00000551331,;CACNB3,downstream_gene_variant,,ENST00000550771,;CACNB3,downstream_gene_variant,,ENST00000548874,;DDX23,downstream_gene_variant,,ENST00000549795,;DDX23,downstream_gene_variant,,ENST00000547842,;CACNB3,downstream_gene_variant,,ENST00000551716,;CACNB3,downstream_gene_variant,,ENST00000547693,;							LOW	1077/1455		CACB3_HUMAN			Transcript			.	ENSP00000301050		CCDS8769.1			1	
IFITM1	0	LGGM	GRCh37	11	314260	314260	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	10	.	.	ENST00000408968.3:c.90G>A	p.Glu30=	p.E30=	ENST00000408968	NM_003641.3	30	gaG/gaA	0	1		UPI0000228B1B	0		ENST00000328221		ENSG00000185885	5412		56			HGNC	p.E30E		IFITM1		SNV							ENST00000408968	protein_coding			Pfam_domain:PF04505,hmmpanther:PTHR13999,hmmpanther:PTHR13999:SF6		E		A		429/844								IFITM1,synonymous_variant,p.=,ENST00000408968,NM_003641.3;IFITM1,synonymous_variant,p.=,ENST00000328221,;IFITM1,synonymous_variant,p.=,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,;							LOW	90/378		IFM1_HUMAN			Transcript			.	ENSP00000330825		CCDS41584.1			1	
EIF4ENIF1	0	LGGM	GRCh37	22	31859943	31859943	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	10	.	.	ENST00000397525.1:c.309G>A	p.Glu103=	p.E103=	ENST00000397525	NM_001164501.1	103	gaG/gaA	0	1		UPI0000124F14	0		ENST00000330125		ENSG00000184708	16687		50			HGNC	p.E103E	rs754071116	EIF4ENIF1	6.25E-05	SNV							ENST00000423097	protein_coding			hmmpanther:PTHR12269,Pfam_domain:PF10477		E		T		384/3544				B1AKL6_HUMAN,B1AKL5_HUMAN				EIF4ENIF1,synonymous_variant,p.=,ENST00000397525,NM_001164501.1;EIF4ENIF1,synonymous_variant,p.=,ENST00000330125,NM_019843.3;EIF4ENIF1,synonymous_variant,p.=,ENST00000397523,;EIF4ENIF1,synonymous_variant,p.=,ENST00000423097,;EIF4ENIF1,intron_variant,,ENST00000344710,NM_001164502.1;EIF4ENIF1,downstream_gene_variant,,ENST00000397520,;EIF4ENIF1,downstream_gene_variant,,ENST00000397518,;RP11-247I13.11,non_coding_transcript_exon_variant,,ENST00000483736,;RP11-247I13.8,non_coding_transcript_exon_variant,,ENST00000439588,;RP11-247I13.11,non_coding_transcript_exon_variant,,ENST00000464523,;DRG1,intron_variant,,ENST00000548143,;							LOW	309/2958		4ET_HUMAN			Transcript			.	ENSP00000328103	8.24E-06	CCDS13898.1			1	
COBL	0	LGGM	GRCh37	7	51098591	51098591	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	10	.	.	ENST00000265136.7:c.1422C>T	p.Val474=	p.V474=	ENST00000265136	NM_015198.3	474	gtC/gtT	0	1	1	UPI00001A9480	0		ENST00000265136		ENSG00000106078	22199		45			HGNC	p.V366V		COBL		SNV							ENST00000445054	protein_coding			hmmpanther:PTHR21557,hmmpanther:PTHR21557:SF1		V		A		1588/5291				C9J9X1_HUMAN			YES	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,;COBL,non_coding_transcript_exon_variant,,ENST00000462395,;							LOW	1422/3786		COBL_HUMAN			Transcript			.	ENSP00000265136		CCDS34637.1			1	
NCOA2	0	LGGM	GRCh37	8	71036991	71036991	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	10	.	.	ENST00000452400.2:c.4026G>T	p.Gln1342His	p.Q1342H	ENST00000452400	NM_006540.2	1342	caG/caT	0	1	1	UPI000012FE42	0	NA	ENST00000452400		ENSG00000140396	7669		65	1.815		HGNC	p.Q430H		NCOA2		SNV							ENST00000267974	protein_coding	getma.org/?cm=var&var=hg19,8,71036991,C,A&fts=all		PIRSF_domain:PIRSF038181,hmmpanther:PTHR10684,hmmpanther:PTHR10684:SF2		Q/H		A	low	4208/8447		getma.org/?cm=msa&ty=f&p=NCOA2_HUMAN&rb=1339&re=1464&var=Q1342H	deleterious(0.02)				YES	NCOA2,missense_variant,p.Gln1342His,ENST00000452400,NM_006540.2;NCOA2,missense_variant,p.Gln468His,ENST00000518363,;NCOA2,missense_variant,p.Gln430His,ENST00000267974,;NCOA2,3_prime_UTR_variant,,ENST00000518287,;NCOA2,downstream_gene_variant,,ENST00000521239,;							MODERATE	4026/4395	Q1342H	NCOA2_HUMAN			Transcript		possibly_damaging(0.823)	.	ENSP00000399968		CCDS47872.1			1	
ALCAM	0	LGGM	GRCh37	3	105243147	105243147	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	18	10	.	.	ENST00000306107.5:c.189C>A	p.Gly63=	p.G63=	ENST00000306107	NM_001627.3	63	ggC/ggA	0	1	1	UPI0000209ECA	0		ENST00000306107		ENSG00000170017	400		28			HGNC	p.G63G		ALCAM		SNV							ENST00000306107	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07686,hmmpanther:PTHR11973,hmmpanther:PTHR11973:SF2,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726		G		A		689/4701				F5GXJ9_HUMAN			YES	ALCAM,synonymous_variant,p.=,ENST00000306107,NM_001627.3;ALCAM,synonymous_variant,p.=,ENST00000472644,NM_001243280.1;ALCAM,synonymous_variant,p.=,ENST00000486979,;ALCAM,non_coding_transcript_exon_variant,,ENST00000481337,;ALCAM,non_coding_transcript_exon_variant,,ENST00000470756,;							LOW	189/1752		CD166_HUMAN			Transcript			.	ENSP00000305988		CCDS33810.1			1	
HSPB8	0	LGGM	GRCh37	12	119624860	119624860	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	10	.	.	ENST00000281938.2:c.398G>A	p.Gly133Asp	p.G133D	ENST00000281938	NM_014365.2	133	gGc/gAc	0	1	1	UPI0000037C1B	0	getma.org/pdb.php?prot=HSPB8_HUMAN&from=93&to=181&var=G133D	ENST00000281938		ENSG00000152137	30171		33	2.78		HGNC	p.G133D		HSPB8		SNV			1				ENST00000281938	protein_coding	getma.org/?cm=var&var=hg19,12,119624860,G,A&fts=all		PROSITE_profiles:PS01031,hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF27,Pfam_domain:PF00011,Gene3D:2.60.40.790,PIRSF_domain:PIRSF036514,Superfamily_domains:SSF49764,Prints_domain:PR00299		G/D		A	medium	1069/2150		getma.org/?cm=msa&ty=f&p=HSPB8_HUMAN&rb=93&re=181&var=G133D	deleterious(0)				YES	HSPB8,missense_variant,p.Gly133Asp,ENST00000281938,NM_014365.2;HSPB8,missense_variant,p.Gly41Asp,ENST00000541798,;RP11-64B16.4,upstream_gene_variant,,ENST00000535921,;HSPB8,non_coding_transcript_exon_variant,,ENST00000542496,;							MODERATE	398/591	G133D	HSPB8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000281938		CCDS9189.1			1	
SH3TC2	0	LGGM	GRCh37	5	148418053	148418053	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	10	.	.	ENST00000515425.1:c.806G>A	p.Gly269Asp	p.G269D	ENST00000515425	NM_024577.3	269	gGc/gAc	0	1	1	UPI00001DFBEE	0	NA	ENST00000515425		ENSG00000169247	29427		68	1.87		HGNC	p.G269D		SH3TC2		SNV			1				ENST00000504690	protein_coding	getma.org/?cm=var&var=hg19,5,148418053,C,T&fts=all		Superfamily_domains:SSF50044,hmmpanther:PTHR22647,hmmpanther:PTHR22647:SF2		G/D		T	low	908/4059		getma.org/?cm=msa&ty=f&p=S3TC2_HUMAN&rb=268&re=331&var=G269D	tolerated(0.09)	B3KXB9_HUMAN			YES	SH3TC2,missense_variant,p.Gly269Asp,ENST00000515425,NM_024577.3;SH3TC2,missense_variant,p.Gly262Asp,ENST00000512049,;SH3TC2,missense_variant,p.Gly154Asp,ENST00000394358,;SH3TC2,splice_region_variant,,ENST00000538184,;SH3TC2,splice_region_variant,,ENST00000503071,;SH3TC2,upstream_gene_variant,,ENST00000513340,;SH3TC2,missense_variant,p.Gly269Asp,ENST00000504690,;SH3TC2,missense_variant,p.Gly69Asp,ENST00000504517,;SH3TC2,splice_region_variant,,ENST00000323829,;SH3TC2,splice_region_variant,,ENST00000513604,;SH3TC2,splice_region_variant,,ENST00000511307,;SH3TC2,downstream_gene_variant,,ENST00000511949,;							MODERATE	806/3867	G269D	S3TC2_HUMAN			Transcript		benign(0.414)	.	ENSP00000423660		CCDS4293.1			1	
SMC2	0	LGGM	GRCh37	9	106882315	106882315	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	128	10	.	.	ENST00000286398.7:c.2004A>G	p.Arg668=	p.R668=	ENST00000286398	NM_006444.2	668	cgA/cgG	0	1	1	UPI000013DE44	0		ENST00000286398		ENSG00000136824	14011		138			HGNC	p.R668R		SMC2		SNV							ENST00000303219	protein_coding			Superfamily_domains:0038317,Pfam_domain:PF02463,PIRSF_domain:PIRSF005719,hmmpanther:PTHR18937,hmmpanther:PTHR18937:SF9		R		G		2292/5976				Q5T821_HUMAN			YES	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,;							LOW	2004/3594		SMC2_HUMAN			Transcript			.	ENSP00000286398		CCDS35086.1			1	
PPP6C	0	LGGM	GRCh37	9	127915912	127915912	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	10	.	.	ENST00000373547.4:c.569C>T	p.Ala190Val	p.A190V	ENST00000373547	NM_002721.4	190	gCa/gTa	0	1		UPI00001320F6	0	getma.org/pdb.php?prot=PPP6_HUMAN&from=46&to=241&var=A190V	ENST00000373547		ENSG00000119414	9323		35	2.025		HGNC	p.A227V		PPP6C		SNV							ENST00000451402	protein_coding	getma.org/?cm=var&var=hg19,9,127915912,G,A&fts=all		hmmpanther:PTHR11668:SF24,hmmpanther:PTHR11668,Pfam_domain:PF00149,Gene3D:3.60.21.10,SMART_domains:SM00156,Superfamily_domains:SSF56300,Prints_domain:PR00114		A/V		A	medium	669/4118		getma.org/?cm=msa&ty=f&p=PPP6_HUMAN&rb=46&re=241&var=A190V	deleterious(0.03)	B7Z3E2_HUMAN				PPP6C,missense_variant,p.Ala227Val,ENST00000451402,NM_001123355.1;PPP6C,missense_variant,p.Ala168Val,ENST00000415905,NM_001123369.1;PPP6C,missense_variant,p.Ala190Val,ENST00000373547,NM_002721.4;PPP6C,missense_variant,p.Ala43Val,ENST00000373546,;PPP6C,downstream_gene_variant,,ENST00000456642,;PRPS1P2,downstream_gene_variant,,ENST00000430496,;							MODERATE	569/918	A190V	PPP6_HUMAN			Transcript		probably_damaging(0.954)	.	ENSP00000362648		CCDS6861.1			1	
ZXDC	0	LGGM	GRCh37	3	126191117	126191117	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	10	.	.	ENST00000389709.3:c.939C>T	p.Ala313=	p.A313=	ENST00000389709	NM_025112.4	313	gcC/gcT	0	1	1	UPI0000D7A440	0		ENST00000389709		ENSG00000070476	28160		64			HGNC	p.A313A	rs773550030	ZXDC		SNV				0.0001			ENST00000336332	protein_coding			Gene3D:3.30.160.60,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR19818,hmmpanther:PTHR19818:SF74,SMART_domains:SM00355,Superfamily_domains:SSF57667		A		A		993/3405				Q9H891_HUMAN,Q69YU0_HUMAN			YES	ZXDC,synonymous_variant,p.=,ENST00000389709,NM_025112.4;ZXDC,synonymous_variant,p.=,ENST00000336332,NM_001040653.2;ZXDC,synonymous_variant,p.=,ENST00000515545,;							LOW	939/2577		ZXDC_HUMAN			Transcript			.	ENSP00000374359	8.24E-06	CCDS43145.1			1	
SECISBP2L	0	LGGM	GRCh37	15	49308826	49308826	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	10	.	.	ENST00000559471.1:c.1492G>A	p.Ala498Thr	p.A498T	ENST00000559471	NM_001193489.1	498	Gct/Act	0	1	1	UPI00001C1F8B	0	NA	ENST00000559471		ENSG00000138593	28997		48	1.895		HGNC	p.A453T		SECISBP2L		SNV							ENST00000261847	protein_coding	getma.org/?cm=var&var=hg19,15,49308826,C,T&fts=all		hmmpanther:PTHR13284,hmmpanther:PTHR13284:SF10		A/T		T	low	1756/7176		getma.org/?cm=msa&ty=f&p=SBP2L_HUMAN&rb=324&re=523&var=A498T	deleterious(0.02)	J3KPI1_HUMAN			YES	SECISBP2L,missense_variant,p.Ala498Thr,ENST00000559471,NM_001193489.1;SECISBP2L,missense_variant,p.Ala453Thr,ENST00000261847,NM_014701.3;SECISBP2L,missense_variant,p.Ala260Thr,ENST00000380927,;SECISBP2L,downstream_gene_variant,,ENST00000559424,;SECISBP2L,non_coding_transcript_exon_variant,,ENST00000561203,;SECISBP2L,upstream_gene_variant,,ENST00000559198,;SECISBP2L,downstream_gene_variant,,ENST00000557940,;SECISBP2L,downstream_gene_variant,,ENST00000558461,;							MODERATE	1492/3306	A498T	SBP2L_HUMAN			Transcript		possibly_damaging(0.818)	.	ENSP00000453854		CCDS53942.1			1	
FZD1	0	LGGM	GRCh37	7	90895200	90895200	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	10	.	.	ENST00000287934.2:c.1005C>T	p.Leu335=	p.L335=	ENST00000287934	NM_003505.1	335	ctC/ctT	0	1	1	UPI000005104D	0		ENST00000287934		ENSG00000157240	4038		84			HGNC	p.L335L		FZD1		SNV							ENST00000287934	protein_coding			Pfam_domain:PF01534,Prints_domain:PR00489,PROSITE_profiles:PS50261,hmmpanther:PTHR11309,hmmpanther:PTHR11309:SF81,Transmembrane_helices:TMhelix		L		T		1418/4341							YES	FZD1,synonymous_variant,p.=,ENST00000287934,NM_003505.1;							LOW	1005/1944		FZD1_HUMAN			Transcript			.	ENSP00000287934		CCDS5620.1			1	
MED13L	0	LGGM	GRCh37	12	116446938	116446938	+	splice_acceptor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	11	.	.	ENST00000281928.3:c.1281-1G>A		p.X427_splice	ENST00000281928	NM_015335.4			0	1	1	UPI0000241C1E	0		ENST00000281928		ENSG00000123066	22962		36			HGNC	-		MED13L		SNV			1				ENST00000281928	protein_coding							T		-/9530				Q9H6Z7_HUMAN			YES	MED13L,splice_acceptor_variant,,ENST00000281928,NM_015335.4;MED13L,non_coding_transcript_exon_variant,,ENST00000549755,;							HIGH	1281/6633		MD13L_HUMAN			Transcript			.	ENSP00000281928		CCDS9177.1			1	
PLXNA1	0	LGGM	GRCh37	3	126724920	126724920	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	11	.	.	ENST00000393409.2:c.1898-2A>T		p.X633_splice	ENST00000393409	NM_032242.3			0	1	1	UPI00001A7983	0		ENST00000393409		ENSG00000114554	9099		53			HGNC	-		PLXNA1		SNV							ENST00000251772	protein_coding							T		-/9066				Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,splice_acceptor_variant,,ENST00000251772,;PLXNA1,splice_acceptor_variant,,ENST00000393409,NM_032242.3;							HIGH	1898/5691		PLXA1_HUMAN			Transcript			.	ENSP00000377061		CCDS33847.2			1	
IFT140	0	LGGM	GRCh37	16	1608104	1608104	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	11	.	.	ENST00000426508.2:c.2231A>T	p.Glu744Val	p.E744V	ENST00000426508	NM_014714.3	744	gAg/gTg	0	1	1	UPI0000073C64	0	NA	ENST00000426508		ENSG00000187535	29077		65	0		HGNC	p.E744V		IFT140		SNV			1				ENST00000426508	protein_coding	getma.org/?cm=var&var=hg19,16,1608104,T,A&fts=all		hmmpanther:PTHR15722		E/V		A	neutral	2595/5270		getma.org/?cm=msa&ty=f&p=IF140_HUMAN&rb=732&re=931&var=E744V	tolerated(0.08)	Q9UG52_HUMAN,H3BTA5_HUMAN,H3BNC5_HUMAN			YES	IFT140,missense_variant,p.Glu744Val,ENST00000426508,NM_014714.3;TMEM204,downstream_gene_variant,,ENST00000566264,NM_024600.5;TMEM204,downstream_gene_variant,,ENST00000253934,NM_001256541.1;IFT140,non_coding_transcript_exon_variant,,ENST00000439987,;IFT140,3_prime_UTR_variant,,ENST00000397417,;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,;IFT140,non_coding_transcript_exon_variant,,ENST00000561954,;							MODERATE	2231/4389	E744V	IF140_HUMAN			Transcript		benign(0.004)	.	ENSP00000406012		CCDS10439.1			1	
DSG3	0	LGGM	GRCh37	18	29054236	29054236	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	11	.	.	ENST00000257189.4:c.2254G>A	p.Ala752Thr	p.A752T	ENST00000257189	NM_001944.2	752	Gcc/Acc	0	1	1	UPI000013CF4B	0	NA	ENST00000257189		ENSG00000134757	3050		48	0.69		HGNC	p.A752T		DSG3		SNV							ENST00000257189	protein_coding	getma.org/?cm=var&var=hg19,18,29054236,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24025:SF3,hmmpanther:PTHR24025		A/T		A	neutral	2337/5525		getma.org/?cm=msa&ty=f&p=DSG3_HUMAN&rb=576&re=774&var=A752T	tolerated(0.46)				YES	DSG3,missense_variant,p.Ala752Thr,ENST00000257189,NM_001944.2;							MODERATE	2254/3000	A752T	DSG3_HUMAN			Transcript		benign(0.001)	.	ENSP00000257189		CCDS11898.1			1	
CBLB	0	LGGM	GRCh37	3	105389078	105389078	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	11	.	.	ENST00000264122.4:c.2688A>T	p.Ser896=	p.S896=	ENST00000264122	NM_170662.3	896	tcA/tcT	0	1	1	UPI00001AE89F	0		ENST00000264122		ENSG00000114423	1542		46			HGNC	p.S235S		CBLB		SNV							ENST00000394030	protein_coding			hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF3		S		A		3010/6780				C9JU85_HUMAN,B5MC15_HUMAN			YES	CBLB,splice_region_variant,p.=,ENST00000264122,NM_170662.3;CBLB,splice_region_variant,p.=,ENST00000394030,;CBLB,splice_region_variant,p.=,ENST00000394027,;CBLB,splice_region_variant,p.=,ENST00000407712,;CBLB,splice_region_variant,,ENST00000476370,;							LOW	2688/2949		CBLB_HUMAN			Transcript			.	ENSP00000264122		CCDS2948.1			1	
PROKR2	0	LGGM	GRCh37	20	5283272	5283272	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	11	.	.	ENST00000546004.1:c.569A>T	p.Tyr190Phe	p.Y190F	ENST00000546004		190	tAc/tTc	0	1		UPI000003BCC6	0	getma.org/pdb.php?prot=PKR2_HUMAN&from=70&to=333&var=Y190F	ENST00000217270		ENSG00000101292	15836		66	0.55		HGNC	p.Y190F		PROKR2		SNV			1				ENST00000546004	protein_coding	getma.org/?cm=var&var=hg19,20,5283272,T,A&fts=all		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		Y/F		A	neutral	569/1155		getma.org/?cm=msa&ty=f&p=PKR2_HUMAN&rb=70&re=333&var=Y190F	deleterious(0.04)					PROKR2,missense_variant,p.Tyr190Phe,ENST00000546004,;PROKR2,missense_variant,p.Tyr190Phe,ENST00000217270,NM_144773.2;							MODERATE	569/1155	Y190F	PKR2_HUMAN			Transcript		possibly_damaging(0.856)	.	ENSP00000217270		CCDS13089.1			1	
FAM186B	0	LGGM	GRCh37	12	49993769	49993769	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	11	.	.	ENST00000257894.2:c.1654G>A	p.Gly552Arg	p.G552R	ENST00000257894	NM_032130.2	552	Ggg/Agg	0	1	1	UPI000007077C	0	NA	ENST00000257894		ENSG00000135436	25296		30	1.79		HGNC	p.G552R		FAM186B		SNV							ENST00000257894	protein_coding	getma.org/?cm=var&var=hg19,12,49993769,C,T&fts=all				G/R		T	low	1816/2944		getma.org/?cm=msa&ty=f&p=F186B_HUMAN&rb=241&re=611&var=G552R	tolerated(0.67)				YES	FAM186B,missense_variant,p.Gly462Arg,ENST00000544141,;FAM186B,missense_variant,p.Gly552Arg,ENST00000257894,NM_032130.2;FAM186B,missense_variant,p.Gly165Arg,ENST00000532262,;FAM186B,intron_variant,,ENST00000551047,;PRPF40B,intron_variant,,ENST00000551063,;FAM186B,upstream_gene_variant,,ENST00000548841,;PRPF40B,non_coding_transcript_exon_variant,,ENST00000508736,;PRPF40B,non_coding_transcript_exon_variant,,ENST00000547764,;PRPF40B,intron_variant,,ENST00000527253,;FAM186B,3_prime_UTR_variant,,ENST00000533372,;RP11-133N21.7,downstream_gene_variant,,ENST00000547655,;							MODERATE	1654/2682	G552R	F186B_HUMAN			Transcript		benign(0.02)	.	ENSP00000257894		CCDS8788.1			1	
ATOSB	0	LGGM	GRCh37	9	35107697	35107697	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	11	.	.	ENST00000378561.1:c.575G>A	p.Ser192Asn	p.S192N	ENST00000378561		192	aGt/aAt	0	1		UPI0000169E3E	0	NA	ENST00000322813		ENSG00000005238	25666		38	0.83		HGNC	p.S192N		FAM214B		SNV							ENST00000322813	protein_coding	getma.org/?cm=var&var=hg19,9,35107697,C,T&fts=all		hmmpanther:PTHR13199,hmmpanther:PTHR13199:SF12		S/N		T	low	886/3028		getma.org/?cm=msa&ty=f&p=F214B_HUMAN&rb=1&re=200&var=S192N	tolerated(0.8)					FAM214B,missense_variant,p.Ser192Asn,ENST00000378561,;FAM214B,missense_variant,p.Ser192Asn,ENST00000603301,;FAM214B,missense_variant,p.Ser192Asn,ENST00000378557,;FAM214B,missense_variant,p.Ser192Asn,ENST00000322813,NM_025182.2;FAM214B,missense_variant,p.Ser192Asn,ENST00000605244,;FAM214B,missense_variant,p.Ser192Asn,ENST00000488109,;FAM214B,missense_variant,p.Ser192Asn,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,;							MODERATE	575/1617	S192N	F214B_HUMAN			Transcript		benign(0.003)	.	ENSP00000319897		CCDS6578.1			1	
GPR85	0	LGGM	GRCh37	7	112724438	112724438	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	11	.	.	ENST00000297146.3:c.339C>T	p.Phe113=	p.F113=	ENST00000297146	NM_001146266.1	113	ttC/ttT	0	1	1	UPI0000004048	0		ENST00000297146		ENSG00000164604	4536		69			HGNC	p.F113F		GPR85		SNV							ENST00000449591	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR19268,hmmpanther:PTHR19268:SF7,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237		F		A		943/5079				C9JDK8_HUMAN,C9JBQ9_HUMAN,A4D0T8_HUMAN			YES	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.=,ENST00000449735,;GPR85,downstream_gene_variant,,ENST00000438062,;GPR85,downstream_gene_variant,,ENST00000487573,;GPR85,synonymous_variant,p.=,ENST00000610164,;							LOW	339/1113		GPR85_HUMAN			Transcript			.	ENSP00000297146		CCDS5758.1			1	
KIAA1429	0	LGGM	GRCh37	8	95531588	95531588	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	11	.	.	ENST00000297591.5:c.2138A>T	p.Gln713Leu	p.Q713L	ENST00000297591	NM_015496.4	713	cAg/cTg	0	1	1	UPI00001BBB23	0	NA	ENST00000297591		ENSG00000164944	24500		58	0.55		HGNC	p.Q713L		KIAA1429		SNV							ENST00000421249	protein_coding	getma.org/?cm=var&var=hg19,8,95531588,T,A&fts=all		hmmpanther:PTHR23185:SF0,hmmpanther:PTHR23185,Superfamily_domains:SSF48371		Q/L		A	neutral	2214/6528		getma.org/?cm=msa&ty=f&p=VIR_HUMAN&rb=690&re=889&var=Q713L	tolerated(0.31)				YES	KIAA1429,missense_variant,p.Gln713Leu,ENST00000297591,NM_015496.4;KIAA1429,missense_variant,p.Gln713Leu,ENST00000437199,;KIAA1429,missense_variant,p.Gln713Leu,ENST00000421249,NM_183009.2;KIAA1429,missense_variant,p.Gln66Leu,ENST00000522263,;							MODERATE	2138/5439	Q713L	VIR_HUMAN			Transcript		benign(0.02)	.	ENSP00000297591		CCDS34923.1			1	
ATP2B4	0	LGGM	GRCh37	1	203678578	203678578	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	11	.	.	ENST00000357681.5:c.1707C>T	p.Asn569=	p.N569=	ENST00000357681	NM_001684.4	569	aaC/aaT	0	1	1	UPI000002A464	0		ENST00000357681		ENSG00000058668	817		65			HGNC	p.N569N		ATP2B4		SNV							ENST00000367218	protein_coding			hmmpanther:PTHR24093:SF276,hmmpanther:PTHR24093,Pfam_domain:PF00702,TIGRFAM_domain:TIGR01517,Gene3D:1.20.1110.10,Superfamily_domains:SSF81660		N		T		2830/8968				A1X4Q2_HUMAN			YES	ATP2B4,synonymous_variant,p.=,ENST00000357681,NM_001684.4;ATP2B4,synonymous_variant,p.=,ENST00000367218,NM_001001396.2;ATP2B4,synonymous_variant,p.=,ENST00000367219,;ATP2B4,synonymous_variant,p.=,ENST00000391954,;ATP2B4,synonymous_variant,p.=,ENST00000341360,;							LOW	1707/3618		AT2B4_HUMAN			Transcript			.	ENSP00000350310		CCDS1440.1			1	
L3MBTL3	0	LGGM	GRCh37	6	130387513	130387513	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	11	.	.	ENST00000529410.1:c.880A>G	p.Ile294Val	p.I294V	ENST00000529410		294	Ata/Gta	0	1		UPI00001C1E3E	0	getma.org/pdb.php?prot=LMBL3_HUMAN&from=268&to=340&var=I294V	ENST00000361794		ENSG00000198945	23035		50	0.545		HGNC	p.I294V		L3MBTL3		SNV							ENST00000361794	protein_coding	getma.org/?cm=var&var=hg19,6,130387513,A,G&fts=all		Gene3D:2.30.30.160,Pfam_domain:PF02820,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72,SMART_domains:SM00561,Superfamily_domains:SSF63748		I/V		G	neutral	1050/4197		getma.org/?cm=msa&ty=f&p=LMBL3_HUMAN&rb=268&re=340&var=I294V	tolerated(0.27)	E9PLL7_HUMAN				L3MBTL3,missense_variant,p.Ile294Val,ENST00000529410,;L3MBTL3,missense_variant,p.Ile294Val,ENST00000368136,;L3MBTL3,missense_variant,p.Ile294Val,ENST00000361794,NM_032438.2;L3MBTL3,missense_variant,p.Ile269Val,ENST00000368139,;L3MBTL3,missense_variant,p.Ile269Val,ENST00000526019,;L3MBTL3,missense_variant,p.Ile269Val,ENST00000533560,NM_001007102.2;L3MBTL3,non_coding_transcript_exon_variant,,ENST00000531313,;L3MBTL3,upstream_gene_variant,,ENST00000533890,;							MODERATE	880/2343	I294V	LMBL3_HUMAN			Transcript		benign(0.008)	.	ENSP00000354526		CCDS34537.1			1	
ADRBK1	0	LGGM	GRCh37	11	67048981	67048981	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	11	.	.	ENST00000308595.5:c.699G>A	p.Glu233=	p.E233=	ENST00000308595	NM_001619.3	233	gaG/gaA	0	1	1	UPI0000001C68	0		ENST00000308595		ENSG00000173020	289		26			HGNC	p.E233E		ADRBK1		SNV							ENST00000308595	protein_coding			Prints_domain:PR00717,Superfamily_domains:SSF56112,SMART_domains:SM00220,Gene3D:3.30.200.20,Pfam_domain:PF00069,hmmpanther:PTHR24355:SF22,hmmpanther:PTHR24355,PROSITE_profiles:PS50011		E		A		989/3466							YES	ADRBK1,synonymous_variant,p.=,ENST00000308595,NM_001619.3;ADRBK1,synonymous_variant,p.=,ENST00000526285,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000532099,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000534651,;ADRBK1,intron_variant,,ENST00000529738,;ADRBK1,upstream_gene_variant,,ENST00000527176,;ADRBK1,upstream_gene_variant,,ENST00000524899,;ADRBK1,upstream_gene_variant,,ENST00000531390,;ADRBK1,upstream_gene_variant,,ENST00000532611,;ADRBK1,downstream_gene_variant,,ENST00000530291,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000416281,;ADRBK1,non_coding_transcript_exon_variant,,ENST00000533077,;ADRBK1,upstream_gene_variant,,ENST00000526572,;ADRBK1,upstream_gene_variant,,ENST00000529815,;							LOW	699/2070		ARBK1_HUMAN			Transcript			.	ENSP00000312262		CCDS8156.1			1	
ACIN1	0	LGGM	GRCh37	14	23564350	23564350	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	11	.	.	ENST00000262710.1:c.146T>C	p.Val49Ala	p.V49A	ENST00000262710	NM_001164814.1	49	gTc/gCc	0	1	1	UPI000013D308	0	NA	ENST00000262710		ENSG00000100813	17066		45	0		HGNC	p.V49A		ACIN1		SNV							ENST00000457657	protein_coding	getma.org/?cm=var&var=hg19,14,23564350,A,G&fts=all				V/A		G	neutral	474/4935		getma.org/?cm=msa&ty=f&p=ACINU_HUMAN&rb=1&re=71&var=V49A		S4R3H4_HUMAN			YES	ACIN1,missense_variant,p.Val49Ala,ENST00000262710,NM_001164814.1,NM_014977.3;ACIN1,missense_variant,p.Val49Ala,ENST00000457657,NM_001164815.1;ACIN1,missense_variant,p.Val49Ala,ENST00000555053,;ACIN1,5_prime_UTR_variant,,ENST00000605057,;C14orf119,5_prime_UTR_variant,,ENST00000319074,NM_017924.3;C14orf119,upstream_gene_variant,,ENST00000554203,;							MODERATE	146/4026	V49A	ACINU_HUMAN			Transcript		benign(0.002)	.	ENSP00000262710		CCDS9587.1			1	
RAG1	0	LGGM	GRCh37	11	36597577	36597577	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	11	.	.	ENST00000299440.5:c.2723C>T	p.Ser908Phe	p.S908F	ENST00000299440	NM_000448.2	908	tCc/tTc	0	1	1	UPI000013E5A0	0	NA	ENST00000299440		ENSG00000166349	9831		40	0.69		HGNC	p.S908F		RAG1		SNV			1				ENST00000299440	protein_coding	getma.org/?cm=var&var=hg19,11,36597577,C,T&fts=all		Pfam_domain:PF12940,hmmpanther:PTHR11539,hmmpanther:PTHR11539:SF0		S/F		T	neutral	2835/6564		getma.org/?cm=msa&ty=f&p=RAG1_HUMAN&rb=513&re=953&var=S908F	tolerated_low_confidence(0.12)				YES	RAG1,missense_variant,p.Ser908Phe,ENST00000299440,NM_000448.2;RAG2,intron_variant,,ENST00000524423,;RAG1,missense_variant,p.Ser908Phe,ENST00000534663,;							MODERATE	2723/3132	S908F	RAG1_HUMAN			Transcript		benign(0.005)	.	ENSP00000299440		CCDS7902.1			1	
RAPGEF2	0	LGGM	GRCh37	4	160274731	160274731	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	11	.	.	ENST00000264431.4:c.3701G>A	p.Gly1234Glu	p.G1234E	ENST00000264431	NM_014247.2	1234	gGg/gAg	0	1	1	UPI0000033783	0	NA	ENST00000264431		ENSG00000109756	16854		49	0.69		HGNC	p.G1234E		RAPGEF2		SNV							ENST00000264431	protein_coding	getma.org/?cm=var&var=hg19,4,160274731,G,A&fts=all				G/E		A	neutral	4120/6949		getma.org/?cm=msa&ty=f&p=RPGF2_HUMAN&rb=1100&re=1299&var=G1234E	deleterious_low_confidence(0.05)	Q9UFT5_HUMAN,Q4W5Q4_HUMAN,Q17RH5_HUMAN,D6REY8_HUMAN,B4DG82_HUMAN			YES	RAPGEF2,missense_variant,p.Gly1234Glu,ENST00000264431,NM_014247.2;RAPGEF2,missense_variant,p.Gly169Glu,ENST00000505026,;RAPGEF2,downstream_gene_variant,,ENST00000510253,;RAPGEF2,downstream_gene_variant,,ENST00000509891,;							MODERATE	3701/4500	G1234E	RPGF2_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000264431		CCDS43277.1			1	
SLC35E2B	0	LGGM	GRCh37	1	1607568	1607568	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	11	.	.	ENST00000378662.1:c.393G>A	p.Gln131=	p.Q131=	ENST00000378662		131	caG/caA	0	1	1	UPI00001B6AFE	0		ENST00000378662		ENSG00000189339	33941		59			HGNC	p.Q131Q		SLC35E2B		SNV							ENST00000378662	protein_coding			hmmpanther:PTHR11132:SF43,hmmpanther:PTHR11132,Pfam_domain:PF00892		Q		T		1154/6261				B3KRW7_HUMAN			YES	SLC35E2B,synonymous_variant,p.=,ENST00000378662,;SLC35E2B,synonymous_variant,p.=,ENST00000234800,NM_001110781.1;RP11-345P4.7,downstream_gene_variant,,ENST00000596308,;SLC35E2B,non_coding_transcript_exon_variant,,ENST00000481276,;RP11-345P4.6,downstream_gene_variant,,ENST00000597891,;							LOW	393/1218		S352B_HUMAN			Transcript			.	ENSP00000367931		CCDS44041.1			1	
APLP2	0	LGGM	GRCh37	11	130005597	130005597	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	11	.	.	ENST00000263574.5:c.1824A>T	p.Leu608=	p.L608=	ENST00000263574	NM_001642.2	608	ctA/ctT	0	1	1	UPI0000125CAE	0		ENST00000263574		ENSG00000084234	598		41			HGNC	p.L396L		APLP2		SNV							ENST00000539648	protein_coding			hmmpanther:PTHR23103:SF14,hmmpanther:PTHR23103		L		T		1896/3720				Q9UED0_HUMAN			YES	APLP2,synonymous_variant,p.=,ENST00000263574,NM_001642.2;APLP2,synonymous_variant,p.=,ENST00000278756,;APLP2,synonymous_variant,p.=,ENST00000543137,NM_001243299.1;APLP2,synonymous_variant,p.=,ENST00000338167,NM_001142276.1;APLP2,synonymous_variant,p.=,ENST00000528499,NM_001142277.1;APLP2,synonymous_variant,p.=,ENST00000539648,;APLP2,synonymous_variant,p.=,ENST00000345598,NM_001142278.1;APLP2,3_prime_UTR_variant,,ENST00000533616,;APLP2,upstream_gene_variant,,ENST00000533860,;APLP2,upstream_gene_variant,,ENST00000530493,;							LOW	1824/2292		APLP2_HUMAN			Transcript			.	ENSP00000263574		CCDS8486.1			1	
SH3BP4	0	LGGM	GRCh37	2	235949833	235949833	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	11	.	.	ENST00000409212.1:c.420G>A	p.Glu140=	p.E140=	ENST00000409212		140	gaG/gaA	0	1		UPI000006DA47	0		ENST00000344528		ENSG00000130147	10826		41			HGNC	p.E140E		SH3BP4		SNV							ENST00000409212	protein_coding			hmmpanther:PTHR15603:SF3,hmmpanther:PTHR15603		E		A		740/5044				C9JWW6_HUMAN,C9JRG1_HUMAN,C9JF25_HUMAN,C9JED2_HUMAN,B4E2S1_HUMAN				SH3BP4,synonymous_variant,p.=,ENST00000409212,;SH3BP4,synonymous_variant,p.=,ENST00000392011,NM_014521.2;SH3BP4,synonymous_variant,p.=,ENST00000344528,;SH3BP4,synonymous_variant,p.=,ENST00000446904,;SH3BP4,downstream_gene_variant,,ENST00000416021,;SH3BP4,downstream_gene_variant,,ENST00000444916,;SH3BP4,downstream_gene_variant,,ENST00000454947,;							LOW	420/2892		SH3B4_HUMAN			Transcript			.	ENSP00000340237		CCDS2513.1			1	
TG	0	LGGM	GRCh37	8	134146948	134146948	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	11	.	.	ENST00000220616.4:c.8217G>A	p.Glu2739=	p.E2739=	ENST00000220616	NM_003235.4	2739	gaG/gaA	0	1	1	UPI000013C79F	0		ENST00000220616		ENSG00000042832	11764		52			HGNC	p.E872E		TG		SNV			1				ENST00000519543	protein_coding			PIRSF_domain:PIRSF001831,hmmpanther:PTHR11559,hmmpanther:PTHR11559:SF142		E		A		8257/8450				Q9NYM1_HUMAN,Q9NYD9_HUMAN,E5RG33_HUMAN			YES	TG,synonymous_variant,p.=,ENST00000220616,NM_003235.4;TG,synonymous_variant,p.=,ENST00000377869,;TG,synonymous_variant,p.=,ENST00000542445,;TG,synonymous_variant,p.=,ENST00000519178,;TG,synonymous_variant,p.=,ENST00000519543,;TG,synonymous_variant,p.=,ENST00000521107,;TG,3_prime_UTR_variant,,ENST00000523756,;TG,non_coding_transcript_exon_variant,,ENST00000522691,;							LOW	8217/8307		THYG_HUMAN			Transcript			.	ENSP00000220616		CCDS34944.1			1	
ARMC4	0	LGGM	GRCh37	10	28228833	28228833	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	11	.	.	ENST00000305242.5:c.2090T>A	p.Ile697Asn	p.I697N	ENST00000305242	NM_018076.2	697	aTt/aAt	0	1	1	UPI00001A95E1	0	getma.org/pdb.php?prot=ARMC4_HUMAN&from=604&to=844&var=I697N	ENST00000305242		ENSG00000169126	25583		30	3.175		HGNC	p.I389N		ARMC4		SNV			1				ENST00000537576	protein_coding	getma.org/?cm=var&var=hg19,10,28228833,A,T&fts=all		hmmpanther:PTHR23315:SF67,hmmpanther:PTHR23315,Gene3D:1.25.10.10,SMART_domains:SM00185,Superfamily_domains:SSF48371		I/N		T	medium	2183/3572		getma.org/?cm=msa&ty=f&p=ARMC4_HUMAN&rb=604&re=844&var=I697N	deleterious(0)	R4GN11_HUMAN,A8K906_HUMAN			YES	ARMC4,missense_variant,p.Ile697Asn,ENST00000305242,NM_018076.2;ARMC4,missense_variant,p.Ile389Asn,ENST00000537576,;ARMC4,missense_variant,p.Ile222Asn,ENST00000545014,;ARMC4,downstream_gene_variant,,ENST00000480504,;							MODERATE	2090/3135	I697N	ARMC4_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000306410		CCDS7157.1			1	
USH2A	0	LGGM	GRCh37	1	216595598	216595598	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	11	.	.	ENST00000307340.3:c.81A>T	p.Ser27=	p.S27=	ENST00000307340	NM_206933.2	27	tcA/tcT	0	1	1	UPI000034E5B6	0		ENST00000307340		ENSG00000042781	12601		44			HGNC	p.S27S		USH2A		SNV			1				ENST00000366943	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170		S		A		468/18883							YES	USH2A,synonymous_variant,p.=,ENST00000366943,;USH2A,synonymous_variant,p.=,ENST00000307340,NM_206933.2;USH2A,synonymous_variant,p.=,ENST00000366942,NM_007123.5;							LOW	81/15609		USH2A_HUMAN			Transcript			.	ENSP00000305941		CCDS31025.1			1	
CNTRL	0	LGGM	GRCh37	9	123911083	123911083	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	11	.	.	ENST00000373855.1:c.3593G>A	p.Gly1198Glu	p.G1198E	ENST00000373855		1198	gGa/gAa	0	1		UPI0000211718	0	NA	ENST00000238341		ENSG00000119397	1858		39	2.045		HGNC	p.G1198E		CNTRL		SNV							ENST00000238341	protein_coding	getma.org/?cm=var&var=hg19,9,123911083,G,A&fts=all		hmmpanther:PTHR18877,hmmpanther:PTHR18877:SF1		G/E		A	medium	3624/7431		getma.org/?cm=msa&ty=f&p=CNTRL_HUMAN&rb=1001&re=1200&var=G1198E		Q5JVD3_HUMAN,Q5JVD6_HUMAN,Q5JVD1_HUMAN				CNTRL,missense_variant,p.Gly1198Glu,ENST00000373855,;CNTRL,missense_variant,p.Gly1198Glu,ENST00000238341,NM_007018.4;CNTRL,missense_variant,p.Gly646Glu,ENST00000373850,;CNTRL,missense_variant,p.Gly646Glu,ENST00000373847,;CNTRL,5_prime_UTR_variant,,ENST00000431571,;CNTRL,upstream_gene_variant,,ENST00000373845,;CNTRL,non_coding_transcript_exon_variant,,ENST00000373851,;							MODERATE	3593/6978	G1198E	CNTRL_HUMAN			Transcript		probably_damaging(0.961)	.	ENSP00000238341		CCDS35118.1			1	
GFM2	0	LGGM	GRCh37	5	74021802	74021802	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	11	.	.	ENST00000296805.3:c.1876G>A	p.Ala626Thr	p.A626T	ENST00000296805	NM_032380.4	626	Gcc/Acc	0	1	1	UPI0000129CA7	0	getma.org/pdb.php?prot=RRF2M_HUMAN&from=560&to=682&var=A626T	ENST00000296805		ENSG00000164347	29682		46	2.44		HGNC	p.A626T		GFM2		SNV							ENST00000296805	protein_coding	getma.org/?cm=var&var=hg19,5,74021802,C,T&fts=all		hmmpanther:PTHR23115,hmmpanther:PTHR23115:SF13,Pfam_domain:PF03764,Gene3D:3.30.230.10,SMART_domains:SM00889,Superfamily_domains:SSF54211		A/T		T	medium	2334/3249		getma.org/?cm=msa&ty=f&p=RRF2M_HUMAN&rb=560&re=682&var=A626T	deleterious(0)	D6RF75_HUMAN			YES	GFM2,missense_variant,p.Ala626Thr,ENST00000296805,NM_032380.4;GFM2,missense_variant,p.Ala626Thr,ENST00000509430,NM_001281302.1;GFM2,missense_variant,p.Ala579Thr,ENST00000345239,NM_170691.2;HEXB,downstream_gene_variant,,ENST00000511181,;HEXB,downstream_gene_variant,,ENST00000261416,NM_000521.3;HEXB,downstream_gene_variant,,ENST00000509579,;HEXB,downstream_gene_variant,,ENST00000513336,;RNU6-658P,upstream_gene_variant,,ENST00000384606,;GFM2,non_coding_transcript_exon_variant,,ENST00000515125,;GFM2,non_coding_transcript_exon_variant,,ENST00000514734,;HEXB,downstream_gene_variant,,ENST00000513539,;HEXB,downstream_gene_variant,,ENST00000503312,;HEXB,downstream_gene_variant,,ENST00000513867,;HEXB,downstream_gene_variant,,ENST00000505859,;GFM2,downstream_gene_variant,,ENST00000506263,;							MODERATE	1876/2340	A626T	RRF2M_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000296805		CCDS4023.1			1	
LUZP2	0	LGGM	GRCh37	11	25004774	25004774	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	95	11	.	.	ENST00000336930.6:c.700A>T	p.Thr234Ser	p.T234S	ENST00000336930		234	Act/Tct	0	1	1	UPI000019816C	0	NA	ENST00000336930		ENSG00000187398	23206		106	0.975		HGNC	p.T234S		LUZP2		SNV							ENST00000336930	protein_coding	getma.org/?cm=var&var=hg19,11,25004774,A,T&fts=all		hmmpanther:PTHR22414,Pfam_domain:PF15294		T/S		T	low	766/3553		getma.org/?cm=msa&ty=f&p=LUZP2_HUMAN&rb=141&re=344&var=T234S	tolerated(0.18)				YES	LUZP2,missense_variant,p.Thr148Ser,ENST00000533227,NM_001009909.3,NM_001252008.1;LUZP2,missense_variant,p.Thr234Ser,ENST00000336930,;LUZP2,downstream_gene_variant,,ENST00000529015,;							MODERATE	700/1041	T234S	LUZP2_HUMAN			Transcript		benign(0.006)	.	ENSP00000336817		CCDS31446.1			1	
AQP10	0	LGGM	GRCh37	1	154296793	154296793	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	11	.	.	ENST00000324978.3:c.743C>T	p.Ala248Val	p.A248V	ENST00000324978	NM_080429.2	248	gCc/gTc	0	1	1	UPI000007028A	0	getma.org/pdb.php?prot=AQP10_HUMAN&from=15&to=260&var=A248V	ENST00000324978		ENSG00000143595	16029		27	2.46		HGNC	p.A248V	COSM4022786	AQP10		SNV						1	ENST00000324978	protein_coding	getma.org/?cm=var&var=hg19,1,154296793,C,T&fts=all		hmmpanther:PTHR19139:SF18,hmmpanther:PTHR19139,Pfam_domain:PF00230,TIGRFAM_domain:TIGR00861,Gene3D:1.20.1080.10,Superfamily_domains:SSF81338,Prints_domain:PR00783		A/V		T	medium	783/1791		getma.org/?cm=msa&ty=f&p=AQP10_HUMAN&rb=15&re=260&var=A248V	deleterious(0.03)				YES	AQP10,missense_variant,p.Ala248Val,ENST00000324978,NM_080429.2;AQP10,3_prime_UTR_variant,,ENST00000484864,;ATP8B2,upstream_gene_variant,,ENST00000368489,NM_020452.3;ATP8B2,upstream_gene_variant,,ENST00000341822,;ATP8B2,upstream_gene_variant,,ENST00000368487,NM_001005855.1;ATP8B2,upstream_gene_variant,,ENST00000426445,;AQP10,downstream_gene_variant,,ENST00000355197,;ATP8B2,upstream_gene_variant,,ENST00000368490,;					1		MODERATE	743/906	A248V	AQP10_HUMAN			Transcript		possibly_damaging(0.633)	.	ENSP00000318355		CCDS1065.1			1	
NARG2	0	LGGM	GRCh37	15	60741633	60741633	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	57	11	.	.	ENST00000261520.4:c.1533T>C	p.Ser511=	p.S511=	ENST00000261520	NM_024611.5	511	tcT/tcC	0	1	1	UPI00001A828C	0		ENST00000261520		ENSG00000128915	29885		68			HGNC	p.S511S		NARG2		SNV							ENST00000261520	protein_coding			hmmpanther:PTHR14633:SF3,hmmpanther:PTHR14633		S		G		1768/7209				H0YMX6_HUMAN,H0YL35_HUMAN,H0YK97_HUMAN,H0YK14_HUMAN,G3V0H6_HUMAN,B3KXT2_HUMAN			YES	NARG2,synonymous_variant,p.=,ENST00000261520,NM_024611.5;NARG2,synonymous_variant,p.=,ENST00000439632,NM_001018089.2;NARG2,downstream_gene_variant,,ENST00000561114,NM_001276385.1;NARG2,downstream_gene_variant,,ENST00000558512,;NARG2,3_prime_UTR_variant,,ENST00000558181,;NARG2,non_coding_transcript_exon_variant,,ENST00000561328,;NARG2,upstream_gene_variant,,ENST00000561144,;							LOW	1533/2949		NARG2_HUMAN			Transcript			.	ENSP00000261520		CCDS10176.1			1	
TAPT1	0	LGGM	GRCh37	4	16193022	16193022	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	11	.	.	ENST00000405303.2:c.574T>A	p.Ser192Thr	p.S192T	ENST00000405303	NM_153365.2	192	Tcc/Acc	0	1	1	UPI0000253B29	0	NA	ENST00000405303		ENSG00000169762	26887		44	1.83		HGNC	p.S18T		TAPT1		SNV							ENST00000304584	protein_coding	getma.org/?cm=var&var=hg19,4,16193022,A,T&fts=all		hmmpanther:PTHR13317,hmmpanther:PTHR13317:SF4,Pfam_domain:PF05346		S/T		T	low	658/4591		getma.org/?cm=msa&ty=f&p=TAPT1_HUMAN&rb=151&re=462&var=S192T	tolerated(0.05)	B4DJJ3_HUMAN			YES	TAPT1,missense_variant,p.Ser192Thr,ENST00000405303,NM_153365.2;TAPT1,missense_variant,p.Ser81Thr,ENST00000399920,;TAPT1,missense_variant,p.Ser18Thr,ENST00000304584,;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,non_coding_transcript_exon_variant,,ENST00000511866,;TAPT1,missense_variant,p.Ser30Thr,ENST00000513782,;TAPT1,3_prime_UTR_variant,,ENST00000505603,;TAPT1,3_prime_UTR_variant,,ENST00000513833,;TAPT1,non_coding_transcript_exon_variant,,ENST00000505317,;TAPT1,non_coding_transcript_exon_variant,,ENST00000507425,;TAPT1,upstream_gene_variant,,ENST00000504281,;							MODERATE	574/1704	S192T	TAPT1_HUMAN			Transcript		benign(0.388)	.	ENSP00000385347		CCDS47030.1			1	
PM20D2	0	LGGM	GRCh37	6	89864616	89864616	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	11	.	.	ENST00000275072.4:c.907T>G	p.Cys303Gly	p.C303G	ENST00000275072	NM_001010853.2	303	Tgc/Ggc	0	1	1	UPI0000160C07	0	getma.org/pdb.php?prot=P20D2_HUMAN&from=83&to=384&var=C303G	ENST00000275072		ENSG00000146281	21408		52	3.9		HGNC	p.C303G		PM20D2		SNV							ENST00000275072	protein_coding	getma.org/?cm=var&var=hg19,6,89864616,T,G&fts=all		Gene3D:3.30.70.360,Pfam_domain:PF01546,PIRSF_domain:PIRSF037226,hmmpanther:PTHR30575,hmmpanther:PTHR30575:SF2,Superfamily_domains:SSF55031		C/G		G	high	1002/4708		getma.org/?cm=msa&ty=f&p=P20D2_HUMAN&rb=83&re=384&var=C303G	deleterious(0)				YES	PM20D2,missense_variant,p.Cys303Gly,ENST00000275072,NM_001010853.2;							MODERATE	907/1311	C303G	P20D2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000275072		CCDS34499.1			1	
SLIT2	0	LGGM	GRCh37	4	20512167	20512167	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	11	.	.	ENST00000504154.1:c.964C>T	p.Pro322Ser	p.P322S	ENST00000504154	NM_004787.1	322	Cca/Tca	0	1	1	UPI00000747E4	0	getma.org/pdb.php?prot=SLIT2_HUMAN&from=300&to=360&var=P322S	ENST00000504154		ENSG00000145147	11086		62	-0.15		HGNC	p.P322S		SLIT2		SNV							ENST00000503823	protein_coding	getma.org/?cm=var&var=hg19,4,20512167,C,T&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24373:SF107,hmmpanther:PTHR24373,Pfam_domain:PF13855,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		P/S		T	neutral	1216/6390		getma.org/?cm=msa&ty=f&p=SLIT2_HUMAN&rb=300&re=360&var=P322S	tolerated(0.3)	Q4W5N0_HUMAN,Q4W5K2_HUMAN,B3KNE2_HUMAN			YES	SLIT2,missense_variant,p.Pro322Ser,ENST00000504154,NM_004787.1;SLIT2,missense_variant,p.Pro322Ser,ENST00000503823,;SLIT2,missense_variant,p.Pro326Ser,ENST00000273739,;SLIT2,missense_variant,p.Pro326Ser,ENST00000503837,;							MODERATE	964/4590	P322S	SLIT2_HUMAN			Transcript		benign(0.399)	.	ENSP00000422591		CCDS3426.1			1	
CCDC47	0	LGGM	GRCh37	17	61829777	61829777	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	11	.	.	ENST00000225726.5:c.1106G>A	p.Gly369Asp	p.G369D	ENST00000225726	NM_020198.2	369	gGt/gAt	0	1	1	UPI000003B0A2	0	NA	ENST00000225726		ENSG00000108588	24856		41	2.25		HGNC	p.G369D		CCDC47		SNV							ENST00000582252	protein_coding	getma.org/?cm=var&var=hg19,17,61829777,C,T&fts=all		hmmpanther:PTHR12883,Pfam_domain:PF07946		G/D		T	medium	1489/3466		getma.org/?cm=msa&ty=f&p=CCD47_HUMAN&rb=133&re=471&var=G369D	deleterious(0)				YES	CCDC47,missense_variant,p.Gly369Asp,ENST00000225726,NM_020198.2;CCDC47,missense_variant,p.Gly369Asp,ENST00000403162,;CCDC47,missense_variant,p.Gly369Asp,ENST00000582252,;RP11-51F16.8,upstream_gene_variant,,ENST00000580553,;CCDC47,downstream_gene_variant,,ENST00000582331,;							MODERATE	1106/1452	G369D	CCD47_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000225726		CCDS11643.1			1	
BCDIN3D	0	LGGM	GRCh37	12	50236662	50236662	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	11	.	.	ENST00000333924.4:c.209G>A	p.Gly70Glu	p.G70E	ENST00000333924	NM_181708.2	70	gGg/gAg	0	1	1	UPI0000160802	0	NA	ENST00000333924		ENSG00000186666	27050		67	1.995		HGNC	p.G63S		BCDIN3D		SNV							ENST00000550861	protein_coding	getma.org/?cm=var&var=hg19,12,50236662,C,T&fts=all		PROSITE_profiles:PS51515,hmmpanther:PTHR12315,hmmpanther:PTHR12315:SF1,Superfamily_domains:SSF53335		G/E		T	medium	251/1502		getma.org/?cm=msa&ty=f&p=BN3D2_HUMAN&rb=53&re=274&var=G70E	deleterious(0.04)				YES	BCDIN3D,missense_variant,p.Gly70Glu,ENST00000333924,NM_181708.2;BCDIN3D-AS1,downstream_gene_variant,,ENST00000548872,;BCDIN3D-AS1,downstream_gene_variant,,ENST00000549124,;BCDIN3D,non_coding_transcript_exon_variant,,ENST00000550861,;							MODERATE	209/879	G70E	BN3D2_HUMAN			Transcript		possibly_damaging(0.679)	.	ENSP00000335201		CCDS8790.1			1	
SLC24A3	0	LGGM	GRCh37	20	19665827	19665827	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	11	.	.	ENST00000328041.6:c.1146G>A	p.Glu382=	p.E382=	ENST00000328041	NM_020689.3	382	gaG/gaA	0	1	1	UPI00001A8BFD	0		ENST00000328041		ENSG00000185052	10977		42			HGNC	p.E382E		SLC24A3		SNV							ENST00000328041	protein_coding			hmmpanther:PTHR10846,hmmpanther:PTHR10846:SF22,TIGRFAM_domain:TIGR00367		E		A		1343/3929							YES	SLC24A3,synonymous_variant,p.=,ENST00000328041,NM_020689.3;							LOW	1146/1935		NCKX3_HUMAN			Transcript			.	ENSP00000333519		CCDS13140.1			1	
MROH9	0	LGGM	GRCh37	1	170964545	170964545	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	11	.	.	ENST00000367759.4:c.1210T>G	p.Cys404Gly	p.C404G	ENST00000367759	NM_001163629.1	404	Tgc/Ggc	0	1		UPI0000470977	0	NA	ENST00000367758		ENSG00000117501	26287		51	2.125		HGNC	p.C404G	rs370038915	MROH9		SNV	G:0.0003						ENST00000367759	protein_coding	getma.org/?cm=var&var=hg19,1,170964545,T,G&fts=all		Gene3D:1.25.10.10,hmmpanther:PTHR23120,hmmpanther:PTHR23120:SF5,Superfamily_domains:SSF48371		C/G	G:0	G	medium	1309/2227		getma.org/?cm=msa&ty=f&p=CA129_HUMAN&rb=30&re=530&var=C404G	deleterious(0)					MROH9,missense_variant,p.Cys404Gly,ENST00000367759,NM_001163629.1;MROH9,missense_variant,p.Cys404Gly,ENST00000367758,NM_025063.2;MROH9,missense_variant,p.Cys11Gly,ENST00000426136,;							MODERATE	1210/1722	C404G	MROH9_HUMAN			Transcript		possibly_damaging(0.559)	.	ENSP00000356732		CCDS41436.1			1	
ZKSCAN8	0	LGGM	GRCh37	6	28121515	28121515	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	11	.	.	ENST00000330236.6:c.1457G>A	p.Gly486Glu	p.G486E	ENST00000330236	NM_001278122.1	486	gGg/gAg	0	1	1	UPI000013D073	0	getma.org/pdb.php?prot=ZN192_HUMAN&from=476&to=501&var=G486E	ENST00000330236		ENSG00000198315	12983		37	1.63		HGNC	p.G486E		ZKSCAN8		SNV							ENST00000457389	protein_coding	getma.org/?cm=var&var=hg19,6,28121515,G,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF64,Superfamily_domains:SSF57667		G/E		A	low	1641/7376		getma.org/?cm=msa&ty=f&p=ZN192_HUMAN&rb=456&re=521&var=G486E	deleterious(0)				YES	ZKSCAN8,missense_variant,p.Gly486Glu,ENST00000330236,NM_001278122.1,NM_006298.3,NM_001278121.1;ZKSCAN8,missense_variant,p.Gly486Glu,ENST00000457389,NM_001278119.1;ZKSCAN8,3_prime_UTR_variant,,ENST00000606198,;ZKSCAN8,downstream_gene_variant,,ENST00000536028,;							MODERATE	1457/1737	G486E	ZKSC8_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000332750		CCDS4645.1			1	
PLXNB1	0	LGGM	GRCh37	3	48462765	48462765	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	11	.	.	ENST00000358536.4:c.1682C>T	p.Pro561Leu	p.P561L	ENST00000358536	NM_002673.4	561	cCc/cTc	0	1		UPI0000038131	0	getma.org/pdb.php?prot=PLXB1_HUMAN&from=530&to=682&var=P561L	ENST00000296440		ENSG00000164050	9103		43	1.32		HGNC	p.P561L		PLXNB1		SNV							ENST00000296440	protein_coding	getma.org/?cm=var&var=hg19,3,48462765,G,A&fts=all		hmmpanther:PTHR22625:SF36,hmmpanther:PTHR22625		P/L		A	low	1785/7143		getma.org/?cm=msa&ty=f&p=PLXB1_HUMAN&rb=530&re=682&var=P561L	tolerated(0.26)	G8JLJ7_HUMAN,B3KRL1_HUMAN				PLXNB1,missense_variant,p.Pro561Leu,ENST00000358536,NM_002673.4;PLXNB1,missense_variant,p.Pro561Leu,ENST00000296440,NM_001130082.1;PLXNB1,missense_variant,p.Pro561Leu,ENST00000358459,;PLXNB1,missense_variant,p.Pro561Leu,ENST00000456774,;PLXNB1,intron_variant,,ENST00000448774,;PLXNB1,intron_variant,,ENST00000466353,;PLXNB1,upstream_gene_variant,,ENST00000484485,;PLXNB1,downstream_gene_variant,,ENST00000473683,;PLXNB1,missense_variant,p.Pro561Leu,ENST00000449094,;PLXNB1,upstream_gene_variant,,ENST00000464294,;PLXNB1,upstream_gene_variant,,ENST00000462738,;							MODERATE	1682/6408	P561L	PLXB1_HUMAN			Transcript		benign(0.002)	.	ENSP00000296440		CCDS2765.1			1	
SYNJ2	0	LGGM	GRCh37	6	158504534	158504534	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	11	.	.	ENST00000355585.4:c.2939G>A	p.Arg980Gln	p.R980Q	ENST00000355585	NM_001178088.1	980	cGg/cAg	0	1	1	UPI000006E2F8	0	NA	ENST00000355585		ENSG00000078269	11504	0.000173	47	0.755		HGNC	p.R980Q	rs372771013	SYNJ2	0.000182	SNV	A:0.0002			0.000192			ENST00000355585	protein_coding	getma.org/?cm=var&var=hg19,6,158504534,G,A&fts=all		Pfam_domain:PF08952,hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF98		R/Q	A:0	A	neutral	3014/7378	5.99E-05	getma.org/?cm=msa&ty=f&p=SYNJ2_HUMAN&rb=863&re=1008&var=R980Q	tolerated(0.28)	B4DLC4_HUMAN			YES	SYNJ2,missense_variant,p.Arg980Gln,ENST00000355585,NM_001178088.1,NM_003898.3;SYNJ2,missense_variant,p.Arg980Gln,ENST00000367122,;SYNJ2,missense_variant,p.Arg65Gln,ENST00000367112,;SYNJ2,missense_variant,p.Arg980Gln,ENST00000367121,;	0.000578						MODERATE	2939/4491	R980Q	SYNJ2_HUMAN			Transcript		benign(0.15)	common_variant	ENSP00000347792	0.000132	CCDS5254.1			1	
GAS2L3	0	LGGM	GRCh37	12	101018121	101018121	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	11	.	.	ENST00000539410.1:c.1538C>T	p.Pro513Leu	p.P513L	ENST00000539410		513	cCt/cTt	0	1		UPI000000DA3B	0	NA	ENST00000266754		ENSG00000139354	27475		54	1.23		HGNC	p.P513L		GAS2L3		SNV							ENST00000547754	protein_coding	getma.org/?cm=var&var=hg19,12,101018121,C,T&fts=all		hmmpanther:PTHR11915:SF256,hmmpanther:PTHR11915		P/L		T	low	1671/2218		getma.org/?cm=msa&ty=f&p=GA2L3_HUMAN&rb=485&re=684&var=P513L	tolerated(0.08)	H0YIT6_HUMAN,G3V1N3_HUMAN,F8VSB7_HUMAN				GAS2L3,missense_variant,p.Pro409Leu,ENST00000537247,;GAS2L3,missense_variant,p.Pro513Leu,ENST00000539410,;GAS2L3,missense_variant,p.Pro513Leu,ENST00000547754,NM_174942.1;GAS2L3,missense_variant,p.Pro513Leu,ENST00000266754,;GAS2L3,missense_variant,p.Pro210Leu,ENST00000552854,;							MODERATE	1538/2085	P513L	GA2L3_HUMAN			Transcript		benign(0.01)	.	ENSP00000266754		CCDS9079.1			1	
PSME4	0	LGGM	GRCh37	2	54154535	54154535	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	11	.	.	ENST00000404125.1:c.1589C>T	p.Thr530Ile	p.T530I	ENST00000404125	NM_014614.2	530	aCa/aTa	0	1	1	UPI0000F3BE4A	0	NA	ENST00000404125		ENSG00000068878	20635		78	1.72		HGNC	p.T530I	rs766480210	PSME4		SNV							ENST00000404125	protein_coding	getma.org/?cm=var&var=hg19,2,54154535,G,A&fts=all		hmmpanther:PTHR32170,hmmpanther:PTHR32170:SF0,Superfamily_domains:SSF48371		T/I		A	low	1645/7099	3.00E-05	getma.org/?cm=msa&ty=f&p=PSME4_HUMAN&rb=401&re=600&var=T530I	deleterious(0)				YES	PSME4,missense_variant,p.Thr530Ile,ENST00000404125,NM_014614.2;PSME4,intron_variant,,ENST00000421748,;PSME4,missense_variant,p.Thr530Ile,ENST00000389993,;PSME4,downstream_gene_variant,,ENST00000475694,;							MODERATE	1589/5532	T530I	PSME4_HUMAN			Transcript		possibly_damaging(0.594)	.	ENSP00000384211	1.65E-05	CCDS33197.2			1	
L3MBTL3	0	LGGM	GRCh37	6	130399703	130399703	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	11	.	.	ENST00000529410.1:c.1245G>A	p.Trp415Ter	p.W415*	ENST00000529410		415	tgG/tgA	0	1		UPI00001C1E3E	0	NA	ENST00000361794		ENSG00000198945	23035		46	0		HGNC	p.W41X		L3MBTL3		SNV							ENST00000563385	protein_coding	getma.org/?cm=var&var=hg19,6,130399703,G,A&fts=all		Gene3D:2.30.30.160,Pfam_domain:PF02820,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72,SMART_domains:SM00561,Superfamily_domains:SSF63748		W/*		A	NA	1415/4197		NA		E9PLL7_HUMAN				L3MBTL3,stop_gained,p.Trp415Ter,ENST00000529410,;L3MBTL3,stop_gained,p.Trp415Ter,ENST00000368136,;L3MBTL3,stop_gained,p.Trp415Ter,ENST00000361794,NM_032438.2;L3MBTL3,stop_gained,p.Trp390Ter,ENST00000368139,;L3MBTL3,stop_gained,p.Trp390Ter,ENST00000526019,;L3MBTL3,stop_gained,p.Trp390Ter,ENST00000533560,NM_001007102.2;L3MBTL3,splice_region_variant,,ENST00000533890,;							HIGH	1245/2343	W415*	LMBL3_HUMAN			Transcript			.	ENSP00000354526		CCDS34537.1			1	
TLR3	0	LGGM	GRCh37	4	187005940	187005940	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	11	.	.	ENST00000296795.3:c.2628C>T	p.Ile876=	p.I876=	ENST00000296795	NM_003265.2	876	atC/atT	0	1	1	UPI0000049B3E	0		ENST00000296795		ENSG00000164342	11849		48			HGNC	p.I599I		TLR3		SNV			1				ENST00000504367	protein_coding			hmmpanther:PTHR24365,hmmpanther:PTHR24365:SF5,Pfam_domain:PF01582,Gene3D:3.40.50.10140,SMART_domains:SM00255,Superfamily_domains:SSF52200		I		T		2732/6015				E6Y0F1_HUMAN,Q1KMK2_HUMAN,E9PGH4_HUMAN			YES	TLR3,synonymous_variant,p.=,ENST00000296795,NM_003265.2;TLR3,synonymous_variant,p.=,ENST00000504367,;TLR3,downstream_gene_variant,,ENST00000513189,;TLR3,downstream_gene_variant,,ENST00000508051,;TLR3,non_coding_transcript_exon_variant,,ENST00000512264,;							LOW	2628/2715		TLR3_HUMAN			Transcript			.	ENSP00000296795		CCDS3846.1			1	
FAF2	0	LGGM	GRCh37	5	175933895	175933895	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	11	.	.	ENST00000261942.6:c.1282G>A	p.Glu428Lys	p.E428K	ENST00000261942	NM_014613.2	428	Gag/Aag	0	1	1	UPI000007478A	0	getma.org/pdb.php?prot=FAF2_HUMAN&from=356&to=441&var=E428K	ENST00000261942		ENSG00000113194	24666		56	2.635		HGNC	p.E428K		FAF2		SNV							ENST00000261942	protein_coding	getma.org/?cm=var&var=hg19,5,175933895,G,A&fts=all		Superfamily_domains:SSF54236,Pfam_domain:PF00789,Gene3D:3.10.20.90,hmmpanther:PTHR23322,hmmpanther:PTHR23322:SF23,PROSITE_profiles:PS50033		E/K		A	medium	1335/4515		getma.org/?cm=msa&ty=f&p=FAF2_HUMAN&rb=356&re=441&var=E428K	deleterious(0.02)				YES	FAF2,missense_variant,p.Glu428Lys,ENST00000261942,NM_014613.2;							MODERATE	1282/1338	E428K	FAF2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000261942		CCDS34296.1			1	
AHNAK2	0	LGGM	GRCh37	14	105417832	105417832	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	238	11	.	.	ENST00000333244.5:c.3956A>G	p.Lys1319Arg	p.K1319R	ENST00000333244	NM_138420.2	1319	aAg/aGg	0	1	1	UPI00015BB2CA	0	NA	ENST00000333244		ENSG00000185567	20125		249	2.825		HGNC	p.K1319R		AHNAK2		SNV							ENST00000333244	protein_coding	getma.org/?cm=var&var=hg19,14,105417832,T,C&fts=all		hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		K/R		C	medium	4076/18254		getma.org/?cm=msa&ty=f&p=AHNK2_HUMAN&rb=1201&re=1400&var=K1319R					YES	AHNAK2,missense_variant,p.Lys1319Arg,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;AHNAK2,downstream_gene_variant,,ENST00000555544,;							MODERATE	3956/17388	K1319R	AHNK2_HUMAN			Transcript		possibly_damaging(0.486)	.	ENSP00000353114		CCDS45177.1			1	
TRIM56	0	LGGM	GRCh37	7	100732116	100732116	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	11	.	.	ENST00000306085.6:c.1523C>T	p.Pro508Leu	p.P508L	ENST00000306085	NM_030961.1	508	cCc/cTc	0	1	1	UPI0000171C4A	0	NA	ENST00000306085		ENSG00000169871	19028		43	0.55		HGNC	p.P508L	COSM1547548,COSM1547547	TRIM56		SNV						1,1	ENST00000306085	protein_coding	getma.org/?cm=var&var=hg19,7,100732116,C,T&fts=all		Gene3D:2.120.10.30,hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF287		P/L		T	neutral	1820/3613		getma.org/?cm=msa&ty=f&p=TRI56_HUMAN&rb=406&re=605&var=P508L	deleterious(0)				YES	TRIM56,missense_variant,p.Pro508Leu,ENST00000306085,NM_030961.1;TRIM56,intron_variant,,ENST00000412507,;TRIM56,upstream_gene_variant,,ENST00000487252,;TRIM56,downstream_gene_variant,,ENST00000467847,;					1,1		MODERATE	1523/2268	P508L	TRI56_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000305161		CCDS43625.1			1	
OSBP2	0	LGGM	GRCh37	22	31286922	31286922	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	11	.	.	ENST00000332585.6:c.1831C>T	p.Arg611Cys	p.R611C	ENST00000332585	NM_030758.3	611	Cgc/Tgc	0	1	1	UPI0000161E15	0	getma.org/pdb.php?prot=OSBP2_HUMAN&from=522&to=903&var=R611C	ENST00000332585		ENSG00000184792	8504		31	3.63		HGNC	p.R610C		OSBP2		SNV							ENST00000446658	protein_coding	getma.org/?cm=var&var=hg19,22,31286922,C,T&fts=all		hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF51,Pfam_domain:PF01237,Superfamily_domains:0051579		R/C		T	high	1935/4340		getma.org/?cm=msa&ty=f&p=OSBP2_HUMAN&rb=522&re=903&var=R611C	deleterious(0)	C9JS84_HUMAN,C9J7J0_HUMAN			YES	OSBP2,missense_variant,p.Arg611Cys,ENST00000332585,NM_030758.3;OSBP2,missense_variant,p.Arg438Cys,ENST00000407373,;OSBP2,missense_variant,p.Arg283Cys,ENST00000431368,;OSBP2,missense_variant,p.Arg562Cys,ENST00000382310,;OSBP2,missense_variant,p.Arg610Cys,ENST00000446658,NM_001282739.1;OSBP2,missense_variant,p.Arg242Cys,ENST00000452656,;OSBP2,missense_variant,p.Arg445Cys,ENST00000403222,NM_001282738.1;OSBP2,missense_variant,p.Arg353Cys,ENST00000437268,NM_001282741.1;OSBP2,missense_variant,p.Arg244Cys,ENST00000401475,NM_001282740.1;OSBP2,missense_variant,p.Arg155Cys,ENST00000535268,NM_001282742.1;OSBP2,missense_variant,p.Arg282Cys,ENST00000453621,;OSBP2,upstream_gene_variant,,ENST00000433183,;OSBP2,downstream_gene_variant,,ENST00000424224,;OSBP2,downstream_gene_variant,,ENST00000454145,;OSBP2,downstream_gene_variant,,ENST00000445781,;OSBP2,upstream_gene_variant,,ENST00000496575,;							MODERATE	1831/2751	R611C	OSBP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000332576		CCDS43002.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186957552	186957552	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	11	.	.	ENST00000367466.3:c.2162A>T	p.Gln721Leu	p.Q721L	ENST00000367466	NM_024420.2	721	cAg/cTg	0	1	1	UPI0000203D76	0	getma.org/pdb.php?prot=PA24A_HUMAN&from=140&to=740&var=Q721L	ENST00000367466		ENSG00000116711	9035		66	1.385		HGNC	p.Q661L		PLA2G4A		SNV							ENST00000442353	protein_coding	getma.org/?cm=var&var=hg19,1,186957552,A,T&fts=all		PROSITE_profiles:PS51210,hmmpanther:PTHR10728,hmmpanther:PTHR10728:SF13,Superfamily_domains:SSF52151		Q/L		T	low	2314/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=140&re=740&var=Q721L	tolerated(0.1)				YES	PLA2G4A,missense_variant,p.Gln721Leu,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Gln661Leu,ENST00000442353,;							MODERATE	2162/2250	Q721L	PA24A_HUMAN			Transcript		benign(0.084)	.	ENSP00000356436		CCDS1372.1			1	
ZNHIT3	0	LGGM	GRCh37	17	34842544	34842544	+	start_lost	Translation_Start_Site	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	11	.	.	ENST00000225410.4:c.1A>G	p.Met1?	p.M1?	ENST00000225410	NM_004773.3	1	Atg/Gtg	0	1	1	UPI0000072634	0	NA	ENST00000225410		ENSG00000108278	12309		73	0		HGNC	p.M1V	rs569362060,COSM248791	ZNHIT3		SNV						0,1	ENST00000592616	protein_coding	getma.org/?cm=var&var=hg19,17,34842544,A,G&fts=all	T:0	hmmpanther:PTHR13241		M/V		G	NA	66/951	1.50E-05	http://getma.org/?cm=msa&ty=f&p=ZNHI3_HUMAN&rb=1&re=36&var=M1V	tolerated_low_confidence(0.05)	K7EPV4_HUMAN,K7EKL9_HUMAN	T:0	T:0.001	YES	ZNHIT3,start_lost,p.Met1?,ENST00000225410,NM_004773.3,NM_001281433.1;ZNHIT3,start_lost,p.Met1?,ENST00000592616,NM_001281432.1;ZNHIT3,5_prime_UTR_variant,,ENST00000588253,;ZNHIT3,5_prime_UTR_variant,,ENST00000490126,;ZNHIT3,upstream_gene_variant,,ENST00000590858,;ZNHIT3,upstream_gene_variant,,ENST00000588357,NM_001281434.1;RNA5SP439,downstream_gene_variant,,ENST00000517103,;ZNHIT3,start_lost,p.Met1?,ENST00000590827,;ZNHIT3,start_lost,p.Met1?,ENST00000586660,;ZNHIT3,non_coding_transcript_exon_variant,,ENST00000592684,;ZNHIT3,upstream_gene_variant,,ENST00000590424,;		T:0.0002			0,1		HIGH	1/468	M1V	ZNHI3_HUMAN		T:0	Transcript		benign(0.008)	.	ENSP00000225410	8.24E-06	CCDS11312.1		T:0	1	
DNAH6	0	LGGM	GRCh37	2	85014348	85014348	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	11	.	.	ENST00000389394.3:c.11161A>T	p.Arg3721Trp	p.R3721W	ENST00000389394	NM_001370.1	3721	Agg/Tgg	0	1		UPI000163AC9D	0	getma.org/pdb.php?prot=DYH6_HUMAN&from=3402&to=4155&var=R3721W	ENST00000237449		ENSG00000115423	2951		54	1.985		HGNC	p.R3721W		DNAH6		SNV							ENST00000389394	protein_coding	getma.org/?cm=var&var=hg19,2,85014348,A,T&fts=all		hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF136,Pfam_domain:PF03028		R/W		T	medium	11169/12666		getma.org/?cm=msa&ty=f&p=DYH6_HUMAN&rb=3402&re=4155&var=R3721W	deleterious(0)	B0I1R8_HUMAN				DNAH6,missense_variant,p.Arg3721Trp,ENST00000389394,NM_001370.1;DNAH6,missense_variant,p.Arg3721Trp,ENST00000237449,;							MODERATE	11161/12477	R3721W	DYH6_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000237449		CCDS46348.1			1	
TLL1	0	LGGM	GRCh37	4	166946497	166946497	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	11	.	.	ENST00000061240.2:c.1072G>T	p.Gly358Cys	p.G358C	ENST00000061240	NM_012464.4	358	Ggc/Tgc	0	1	1	UPI0000072EED	0	getma.org/pdb.php?prot=TLL1_HUMAN&from=349&to=458&var=G358C	ENST00000061240		ENSG00000038295	11843		79	4.55		HGNC	p.G358C		TLL1		SNV			1				ENST00000513213	protein_coding	getma.org/?cm=var&var=hg19,4,166946497,G,T&fts=all		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		G/C		T	high	1719/6708		getma.org/?cm=msa&ty=f&p=TLL1_HUMAN&rb=349&re=458&var=G358C	deleterious(0)	D6RCE0_HUMAN			YES	TLL1,missense_variant,p.Gly358Cys,ENST00000061240,NM_012464.4;TLL1,missense_variant,p.Gly358Cys,ENST00000507499,;TLL1,missense_variant,p.Gly358Cys,ENST00000513213,NM_001204760.1;TLL1,3_prime_UTR_variant,,ENST00000509505,;							MODERATE	1072/3042	G358C	TLL1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000061240		CCDS3811.1			1	
CHSY3	0	LGGM	GRCh37	5	129520792	129520792	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	11	.	.	ENST00000305031.4:c.1957A>G	p.Lys653Glu	p.K653E	ENST00000305031	NM_175856.4	653	Aag/Gag	0	1	1	UPI0000251E08	0	NA	ENST00000305031		ENSG00000198108	24293		48	1.69		HGNC	p.K653E		CHSY3		SNV							ENST00000305031	protein_coding	getma.org/?cm=var&var=hg19,5,129520792,A,G&fts=all		Gene3D:3.90.550.10,Pfam_domain:PF05679,hmmpanther:PTHR12369,hmmpanther:PTHR12369:SF18,Superfamily_domains:SSF53448		K/E		G	low	2315/3850		getma.org/?cm=msa&ty=f&p=CHSS3_HUMAN&rb=328&re=864&var=K653E	tolerated(0.07)	Q1JTV1_HUMAN			YES	CHSY3,missense_variant,p.Lys653Glu,ENST00000305031,NM_175856.4;CHSY3,downstream_gene_variant,,ENST00000507545,;							MODERATE	1957/2649	K653E	CHSS3_HUMAN			Transcript		possibly_damaging(0.792)	.	ENSP00000302629		CCDS34223.1			1	
COL11A1	0	LGGM	GRCh37	1	103428256	103428256	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	11	.	.	ENST00000370096.3:c.2977C>T	p.Pro993Ser	p.P993S	ENST00000370096	NM_001854.3	993	Cct/Tct	0	1	1	UPI00002053EF	0	getma.org/pdb.php?prot=COBA1_HUMAN&from=901&to=1100&var=P993S	ENST00000370096		ENSG00000060718	2186		32	1.41		HGNC	p.P877S		COL11A1		SNV			1				ENST00000512756	protein_coding	getma.org/?cm=var&var=hg19,1,103428256,G,A&fts=all		hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF42,Low_complexity_(Seg):seg		P/S		A	low	3290/7286		getma.org/?cm=msa&ty=f&p=COBA1_HUMAN&rb=901&re=1100&var=P993S		Q4FAC4_HUMAN,B4DQZ0_HUMAN			YES	COL11A1,missense_variant,p.Pro1005Ser,ENST00000358392,NM_080629.2;COL11A1,missense_variant,p.Pro993Ser,ENST00000370096,NM_001854.3;COL11A1,missense_variant,p.Pro954Ser,ENST00000353414,NM_001190709.1;COL11A1,missense_variant,p.Pro877Ser,ENST00000512756,NM_080630.3;COL11A1,upstream_gene_variant,,ENST00000465209,;							MODERATE	2977/5421	P993S	COBA1_HUMAN			Transcript		unknown(0)	.	ENSP00000359114		CCDS778.1			1	
KBTBD3	0	LGGM	GRCh37	11	105929662	105929662	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	11	.	.	ENST00000526793.1:c.163A>T	p.Lys55Ter	p.K55*	ENST00000526793	NM_152433.3	55	Aaa/Taa	0	1	1	UPI00001BDB79	0	NA	ENST00000526793		ENSG00000182359	22934		56	0		HGNC	p.K55X		KBTBD3		SNV							ENST00000526793	protein_coding	getma.org/?cm=var&var=hg19,11,105929662,T,A&fts=all		Superfamily_domains:SSF54695,SMART_domains:SM00225,PIRSF_domain:PIRSF037037,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24412,PROSITE_profiles:PS50097,hmmpanther:PTHR24412:SF5		K/*		A	NA	323/3751		NA		G3V161_HUMAN,E9PKJ3_HUMAN			YES	KBTBD3,stop_gained,p.Lys55Ter,ENST00000526793,NM_152433.3;KBTBD3,stop_gained,p.Lys55Ter,ENST00000531837,NM_198439.2;KBTBD3,stop_gained,p.Lys55Ter,ENST00000531482,;KBTBD3,intron_variant,,ENST00000534815,;KBTBD3,intron_variant,,ENST00000532662,;KBTBD3,non_coding_transcript_exon_variant,,ENST00000528483,;							HIGH	163/1839	K51*	KBTB3_HUMAN			Transcript			.	ENSP00000436262		CCDS8334.1			1	
PCDHA2	0	LGGM	GRCh37	5	140175313	140175313	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	11	.	.	ENST00000526136.1:c.764C>A	p.Thr255Lys	p.T255K	ENST00000526136	NM_018905.2	255	aCg/aAg	0	1	1	UPI00001273C9	0	getma.org/pdb.php?prot=PCDA2_HUMAN&from=247&to=341&var=T255K	ENST00000526136		ENSG00000204969	8668		63	1.6		HGNC	p.T255K		PCDHA2		SNV							ENST00000378132	protein_coding	getma.org/?cm=var&var=hg19,5,140175313,C,A&fts=all		Gene3D:2.60.40.60,Pfam_domain:PF00028,Prints_domain:PR00205,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF60,Superfamily_domains:SSF49313		T/K		A	low	764/5254		getma.org/?cm=msa&ty=f&p=PCDA2_HUMAN&rb=247&re=341&var=T255K	deleterious_low_confidence(0)				YES	PCDHA2,missense_variant,p.Thr255Lys,ENST00000526136,NM_018905.2;PCDHA2,missense_variant,p.Thr255Lys,ENST00000520672,NM_031496.1;PCDHA2,missense_variant,p.Thr255Lys,ENST00000378132,NM_031495.1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;PCDHA1,intron_variant,,ENST00000394633,NM_031411.1;							MODERATE	764/2847	T255K	PCDA2_HUMAN			Transcript		benign(0.104)	.	ENSP00000431748		CCDS54914.1			1	
KLK6	0	LGGM	GRCh37	19	51466583	51466583	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	11	.	.	ENST00000376851.3:c.420C>A	p.Ile140=	p.I140=	ENST00000376851	NM_001012964.1	140	atC/atA	0	1		UPI000004CA06	0		ENST00000310157		ENSG00000167755	6367		41			HGNC	p.I33I		KLK6		SNV							ENST00000456750	protein_coding			PROSITE_profiles:PS50240,hmmpanther:PTHR24271,hmmpanther:PTHR24271:SF19,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,Superfamily_domains:SSF50494		I		T		663/1511								KLK6,synonymous_variant,p.=,ENST00000376851,NM_001012964.1;KLK6,synonymous_variant,p.=,ENST00000310157,NM_002774.3;KLK6,synonymous_variant,p.=,ENST00000391808,NM_001012965.1;KLK6,synonymous_variant,p.=,ENST00000594641,;KLK6,synonymous_variant,p.=,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,;							LOW	420/735		KLK6_HUMAN			Transcript			.	ENSP00000309148		CCDS12811.1			1	
TTN	0	LGGM	GRCh37	2	179641745	179641745	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	11	.	.	ENST00000589042.1:c.4846A>T	p.Lys1616Ter	p.K1616*	ENST00000589042	NM_001267550.1	1616	Aaa/Taa	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		44	0		HGNC	p.K1616X		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179641745,T,A&fts=all		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		K/*		A	NA	5071/104301		NA		C9JQJ2_HUMAN				TTN,stop_gained,p.Lys1616Ter,ENST00000589042,NM_001267550.1;TTN,stop_gained,p.Lys1616Ter,ENST00000591111,;TTN,stop_gained,p.Lys1616Ter,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,stop_gained,p.Lys1570Ter,ENST00000342175,NM_133437.3;TTN,stop_gained,p.Lys1570Ter,ENST00000359218,NM_133432.3;TTN,stop_gained,p.Lys1570Ter,ENST00000460472,NM_003319.4;TTN,stop_gained,p.Lys1616Ter,ENST00000360870,NM_133379.4;RP11-88L24.4,non_coding_transcript_exon_variant,,ENST00000582038,;TTN-AS1,downstream_gene_variant,,ENST00000585451,;TTN-AS1,downstream_gene_variant,,ENST00000584485,;TTN-AS1,downstream_gene_variant,,ENST00000610005,;							HIGH	4846/103053	K1616*	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
LAMB4	0	LGGM	GRCh37	7	107738903	107738903	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	11	.	.	ENST00000388781.3:c.1305C>T	p.Asp435=	p.D435=	ENST00000388781	NM_007356.2	435	gaC/gaT	0	1		UPI0000198CD5	0		ENST00000205386		ENSG00000091128	6491		38			HGNC	p.D435D		LAMB4		SNV							ENST00000414450	protein_coding			Superfamily_domains:SSF57196,SMART_domains:SM00180,Pfam_domain:PF00053,Gene3D:2.10.25.10,PROSITE_patterns:PS01248,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF256,PROSITE_profiles:PS50027		D		A		1385/5857				C9JM08_HUMAN				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,;							LOW	1305/5286		LAMB4_HUMAN			Transcript			.	ENSP00000205386		CCDS34732.1			1	
KIAA1549	0	LGGM	GRCh37	7	138529079	138529079	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	11	.	.	ENST00000422774.1:c.5435C>T	p.Pro1812Leu	p.P1812L	ENST00000422774		1812	cCt/cTt	0	1	1	UPI0001837EBD	0	NA	ENST00000422774		ENSG00000122778	22219		38	2.005		HGNC	p.P1812L		KIAA1549		SNV			1				ENST00000440172	protein_coding	getma.org/?cm=var&var=hg19,7,138529079,G,A&fts=all		hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF4		P/L		A	medium	5484/6283		getma.org/?cm=msa&ty=f&p=K1549_HUMAN&rb=1703&re=1902&var=P1812L	deleterious(0)				YES	KIAA1549,missense_variant,p.Pro1812Leu,ENST00000440172,NM_001164665.1,NM_020910.2;KIAA1549,missense_variant,p.Pro1762Leu,ENST00000242365,;KIAA1549,missense_variant,p.Pro1812Leu,ENST00000422774,;							MODERATE	5435/5853	P1812L	K1549_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000416040		CCDS56513.1			1	
STAB1	0	LGGM	GRCh37	3	52553378	52553378	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	11	.	.	ENST00000321725.6:c.5133C>T	p.Pro1711=	p.P1711=	ENST00000321725	NM_015136.2	1711	ccC/ccT	0	1	1	UPI0000140C12	0		ENST00000321725		ENSG00000010327	18628		67			HGNC	p.P1711P	rs774581670	STAB1		SNV							ENST00000321725	protein_coding			Superfamily_domains:SSF82153,SMART_domains:SM00554,Gene3D:2.30.180.10,hmmpanther:PTHR24038:SF2,hmmpanther:PTHR24038		P		T		5209/7928	1.52E-05						YES	STAB1,synonymous_variant,p.=,ENST00000321725,NM_015136.2;STAB1,upstream_gene_variant,,ENST00000469989,;STAB1,non_coding_transcript_exon_variant,,ENST00000461325,;STAB1,non_coding_transcript_exon_variant,,ENST00000481626,;STAB1,upstream_gene_variant,,ENST00000462741,;STAB1,upstream_gene_variant,,ENST00000462681,;							LOW	5133/7713		STAB1_HUMAN			Transcript			.	ENSP00000312946	8.24E-06	CCDS33768.1			1	
MUC16	0	LGGM	GRCh37	19	9063918	9063918	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	11	.	.	ENST00000397910.4:c.23528G>A	p.Ser7843Asn	p.S7843N	ENST00000397910	NM_024690.2	7843	aGc/aAc	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		61	1.04		HGNC	p.S7843N	rs756990937	MUC16		SNV				0.000102			ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9063918,C,T&fts=all		Low_complexity_(Seg):seg		S/N		T	low	23732/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=7534&re=7864&var=S7845N		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser7843Asn,ENST00000397910,NM_024690.2;							MODERATE	23528/43524	S7845N				Transcript		unknown(0)	.	ENSP00000381008	8.26E-06	CCDS54212.1			1	
ABHD14B	0	LGGM	GRCh37	3	52005574	52005574	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	11	.	.	ENST00000483233.1:c.113T>A	p.Leu38Gln	p.L38Q	ENST00000483233		38	cTg/cAg	0	1		UPI000006F0B7	0	getma.org/pdb.php?prot=ABHEB_HUMAN&from=34&to=189&var=L38Q	ENST00000361143		ENSG00000114779	28235		23	3.685		HGNC	p.L38Q		ABHD14B		SNV							ENST00000525795	protein_coding	getma.org/?cm=var&var=hg19,3,52005574,A,T&fts=all		hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF281,Gene3D:3.40.50.1820,Pfam_domain:PF12695,Superfamily_domains:SSF53474		L/Q		T	high	243/1636		getma.org/?cm=msa&ty=f&p=ABHEB_HUMAN&rb=34&re=189&var=L38Q	deleterious(0)					ABHD14B,missense_variant,p.Leu38Gln,ENST00000315877,;ABHD14B,missense_variant,p.Leu38Gln,ENST00000483233,;ABHD14B,missense_variant,p.Leu38Gln,ENST00000395008,NM_032750.2;ABHD14B,missense_variant,p.Leu38Gln,ENST00000361143,;ABHD14B,missense_variant,p.Leu38Gln,ENST00000461108,;ABHD14B,missense_variant,p.Leu38Gln,ENST00000525795,;ABHD14A,missense_variant,p.Gln2Leu,ENST00000497864,;RP11-155D18.14,intron_variant,,ENST00000489595,;PCBP4,upstream_gene_variant,,ENST00000461554,NM_001174100.1;PCBP4,upstream_gene_variant,,ENST00000395013,;PCBP4,upstream_gene_variant,,ENST00000355852,NM_033008.2;PCBP4,upstream_gene_variant,,ENST00000484633,NM_020418.3;PCBP4,upstream_gene_variant,,ENST00000428823,;ACY1,upstream_gene_variant,,ENST00000458031,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000463937,;ABHD14A,upstream_gene_variant,,ENST00000273596,NM_015407.4;PCBP4,upstream_gene_variant,,ENST00000466412,;PCBP4,upstream_gene_variant,,ENST00000468324,;ABHD14A,upstream_gene_variant,,ENST00000491470,;ABHD14A,upstream_gene_variant,,ENST00000494478,;PCBP4,upstream_gene_variant,,ENST00000483411,;PCBP4,upstream_gene_variant,,ENST00000461544,;PCBP4,upstream_gene_variant,,ENST00000497653,;PCBP4,upstream_gene_variant,,ENST00000490063,;RP11-155D18.12,non_coding_transcript_exon_variant,,ENST00000488257,;ABHD14B,intron_variant,,ENST00000487005,;ABHD14B,non_coding_transcript_exon_variant,,ENST00000473912,;PCBP4,upstream_gene_variant,,ENST00000471308,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000463721,;ABHD14A,upstream_gene_variant,,ENST00000474575,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000486081,;ABHD14A-ACY1,upstream_gene_variant,,ENST00000497128,;PCBP4,upstream_gene_variant,,ENST00000471358,;							MODERATE	113/633	L38Q	ABHEB_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000354841		CCDS2842.1			1	
DHX9	0	LGGM	GRCh37	1	182844005	182844005	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	76	11	.	.	ENST00000367549.3:c.1731C>T	p.Asp577=	p.D577=	ENST00000367549	NM_001357.4	577	gaC/gaT	0	1	1	UPI00001AEF15	0		ENST00000367549		ENSG00000135829	2750		87			HGNC	p.D577D		DHX9		SNV							ENST00000367549	protein_coding			hmmpanther:PTHR18934,hmmpanther:PTHR18934:SF84,Superfamily_domains:SSF52540		D		T		1841/4240							YES	DHX9,synonymous_variant,p.=,ENST00000367549,NM_001357.4;DHX9,upstream_gene_variant,,ENST00000485081,;DHX9,upstream_gene_variant,,ENST00000474446,;DHX9,upstream_gene_variant,,ENST00000490519,;							LOW	1731/3813		DHX9_HUMAN			Transcript			.	ENSP00000356520		CCDS41444.1			1	
SRGAP1	0	LGGM	GRCh37	12	64456773	64456773	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	11	.	.	ENST00000355086.3:c.878C>T	p.Thr293Ile	p.T293I	ENST00000355086	NM_020762.2	293	aCc/aTc	0	1	1	UPI00001A9CB9	0	NA	ENST00000355086		ENSG00000196935	17382		56	2.38		HGNC	p.T293I		SRGAP1		SNV							ENST00000357825	protein_coding	getma.org/?cm=var&var=hg19,12,64456773,C,T&fts=all		hmmpanther:PTHR14166,hmmpanther:PTHR14166:SF15,Superfamily_domains:SSF103657		T/I		T	medium	1402/8943		getma.org/?cm=msa&ty=f&p=SRGP1_HUMAN&rb=122&re=321&var=T293I	deleterious(0.01)				YES	SRGAP1,missense_variant,p.Thr293Ile,ENST00000355086,NM_020762.2;SRGAP1,missense_variant,p.Thr293Ile,ENST00000357825,;SRGAP1,missense_variant,p.Thr253Ile,ENST00000543397,;RP11-196H14.2,intron_variant,,ENST00000535594,;SRGAP1,non_coding_transcript_exon_variant,,ENST00000537556,;							MODERATE	878/3258	T293I	SRGP1_HUMAN			Transcript		benign(0.284)	.	ENSP00000347198		CCDS8967.1			1	
THRAP3	0	LGGM	GRCh37	1	36767255	36767255	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	11	.	.	ENST00000354618.5:c.2604G>A	p.Glu868=	p.E868=	ENST00000354618	NM_005119.3	868	gaG/gaA	0	1	1	UPI0000203F28	0		ENST00000354618		ENSG00000054118	22964		41			HGNC	p.E868E		THRAP3		SNV							ENST00000354618	protein_coding			hmmpanther:PTHR15268,hmmpanther:PTHR15268:SF16		E		A		2828/4432				E9PML1_HUMAN			YES	THRAP3,synonymous_variant,p.=,ENST00000354618,NM_005119.3;THRAP3,synonymous_variant,p.=,ENST00000469141,;SH3D21,upstream_gene_variant,,ENST00000453908,NM_001162530.1;SH3D21,upstream_gene_variant,,ENST00000426732,;SH3D21,upstream_gene_variant,,ENST00000373139,;							LOW	2604/2868		TR150_HUMAN			Transcript			.	ENSP00000346634		CCDS405.1			1	
UNC79	0	LGGM	GRCh37	14	94063797	94063797	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	11	.	.	ENST00000256339.4:c.2752T>A	p.Cys918Ser	p.C918S	ENST00000256339	NM_020818.3	918	Tgc/Agc	0	1		UPI00021CF3DC	0	NA	ENST00000393151		ENSG00000133958	19966		41	0.895		HGNC	p.C1095S		UNC79		SNV							ENST00000555664	protein_coding	getma.org/?cm=var&var=hg19,14,94063797,T,A&fts=all		hmmpanther:PTHR21696,hmmpanther:PTHR21696:SF1,Superfamily_domains:SSF48371		C/S		A	low	3283/7908		getma.org/?cm=msa&ty=f&p=UNC79_HUMAN&rb=941&re=1459&var=C1095S	tolerated(0.35)					UNC79,missense_variant,p.Cys1095Ser,ENST00000553484,;UNC79,missense_variant,p.Cys1095Ser,ENST00000555664,;UNC79,missense_variant,p.Cys918Ser,ENST00000256339,NM_020818.3;UNC79,missense_variant,p.Cys1095Ser,ENST00000393151,;							MODERATE	3283/7908	C1095S	UNC79_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000376858					1	
TMPRSS11B	0	LGGM	GRCh37	4	69100308	69100308	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	11	.	.	ENST00000332644.5:c.342G>A	p.Gln114=	p.Q114=	ENST00000332644	NM_182502.3	114	caG/caA	0	1	1	UPI000013E249	0		ENST00000332644		ENSG00000185873	25398		37			HGNC	p.Q114Q		TMPRSS11B		SNV							ENST00000332644	protein_coding			PROSITE_profiles:PS50024,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF90,Gene3D:1ivzA00,Pfam_domain:PF01390,PIRSF_domain:PIRSF037941,Superfamily_domains:0047452		Q		T		504/2671							YES	TMPRSS11B,synonymous_variant,p.=,ENST00000332644,NM_182502.3;TMPRSS11B,non_coding_transcript_exon_variant,,ENST00000502365,;TMPRSS11B,upstream_gene_variant,,ENST00000510856,;							LOW	342/1251		TM11B_HUMAN			Transcript			.	ENSP00000330475		CCDS3521.1			1	
LRP1	0	LGGM	GRCh37	12	57593184	57593184	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	12	.	.	ENST00000243077.3:c.9865+1G>A		p.X3289_splice	ENST00000243077	NM_002332.2			0	1	1	UPI00001B044F	0		ENST00000243077		ENSG00000123384	6692		37			HGNC	-		LRP1		SNV							ENST00000243077	protein_coding							A		-/14897				Q6LBN5_HUMAN,Q6LAF4_HUMAN			YES	LRP1,splice_donor_variant,,ENST00000243077,NM_002332.2;LRP1,upstream_gene_variant,,ENST00000555124,;MIR1228,downstream_gene_variant,,ENST00000408438,;LRP1,upstream_gene_variant,,ENST00000556356,;LRP1,upstream_gene_variant,,ENST00000451724,;LRP1,upstream_gene_variant,,ENST00000556247,;LRP1,upstream_gene_variant,,ENST00000555941,;							HIGH	9865/13635		LRP1_HUMAN			Transcript			.	ENSP00000243077		CCDS8932.1			1	
ANKS1A	0	LGGM	GRCh37	6	34949753	34949753	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	12	.	.	ENST00000360359.3:c.722G>A	p.Ser241Asn	p.S241N	ENST00000360359	NM_015245.2	241	aGc/aAc	0	1	1	UPI00001C1E4D	0	getma.org/pdb.php?prot=ANS1A_HUMAN&from=214&to=246&var=S241N	ENST00000360359		ENSG00000064999	20961		51	1.24		HGNC	p.S241N		ANKS1A		SNV							ENST00000535627	protein_coding	getma.org/?cm=var&var=hg19,6,34949753,G,A&fts=all		PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24174,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		S/N		A	low	860/6336		getma.org/?cm=msa&ty=f&p=ANS1A_HUMAN&rb=214&re=246&var=S241N	deleterious(0.04)				YES	ANKS1A,missense_variant,p.Ser241Asn,ENST00000360359,NM_015245.2;ANKS1A,missense_variant,p.Ser241Asn,ENST00000535627,;							MODERATE	722/3405	S241N	ANS1A_HUMAN			Transcript		benign(0.033)	.	ENSP00000353518		CCDS4798.1			1	
RSF1	0	LGGM	GRCh37	11	77412904	77412904	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	12	.	.	ENST00000308488.6:c.1370C>T	p.Thr457Ile	p.T457I	ENST00000308488		457	aCa/aTa	0	1	1	UPI00001FB001	0	NA	ENST00000308488		ENSG00000048649	18118		59	1.61		HGNC	p.T426I		RSF1		SNV							ENST00000360355	protein_coding	getma.org/?cm=var&var=hg19,11,77412904,G,A&fts=all		hmmpanther:PTHR10615,hmmpanther:PTHR10615:SF2		T/I		A	low	1673/11550		getma.org/?cm=msa&ty=f&p=RSF1_HUMAN&rb=211&re=474&var=T457I	tolerated_low_confidence(0.09)	H0YER1_HUMAN,H0YDG9_HUMAN,H0YCN2_HUMAN			YES	RSF1,missense_variant,p.Thr457Ile,ENST00000308488,;RSF1,missense_variant,p.Thr205Ile,ENST00000480887,;RSF1,missense_variant,p.Thr426Ile,ENST00000360355,NM_016578.3;RSF1,missense_variant,p.Thr258Ile,ENST00000526324,;RSF1,missense_variant,p.Thr456Ile,ENST00000528095,;RSF1,upstream_gene_variant,,ENST00000531026,;RSF1,upstream_gene_variant,,ENST00000532556,;RSF1,downstream_gene_variant,,ENST00000534794,;RSF1,upstream_gene_variant,,ENST00000531768,;							MODERATE	1370/4326	T457I	RSF1_HUMAN			Transcript		benign(0.046)	.	ENSP00000311513		CCDS8253.1			1	
KIAA0391	0	LGGM	GRCh37	14	35649879	35649879	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	12	.	.	ENST00000534898.4:c.1171C>T	p.Leu391Phe	p.L391F	ENST00000534898		391	Ctt/Ttt	0	1	1	UPI000000CC23	0	NA	ENST00000534898		ENSG00000100890	19958		37	1.78		HGNC	p.L391F	rs755178679	KIAA0391		SNV							ENST00000534898	protein_coding	getma.org/?cm=var&var=hg19,14,35649879,C,T&fts=all		hmmpanther:PTHR13547,hmmpanther:PTHR13547:SF1		L/F		T	low	1531/2611	1.58E-05	getma.org/?cm=msa&ty=f&p=MRRP3_HUMAN&rb=201&re=400&var=L391F	tolerated(0.19)	S4R416_HUMAN,S4R3T4_HUMAN,S4R3S1_HUMAN			YES	KIAA0391,missense_variant,p.Leu296Phe,ENST00000250377,NM_014672.3,NM_001256679.1;KIAA0391,missense_variant,p.Leu391Phe,ENST00000534898,;KIAA0391,missense_variant,p.Leu375Phe,ENST00000321130,NM_001256678.1;KIAA0391,missense_variant,p.Leu375Phe,ENST00000603544,;KIAA0391,missense_variant,p.Leu296Phe,ENST00000604948,;KIAA0391,missense_variant,p.Leu19Phe,ENST00000605870,NM_001256680.1,NM_001256681.1;KIAA0391,missense_variant,p.Leu19Phe,ENST00000557404,;KIAA0391,missense_variant,p.Leu391Phe,ENST00000557565,;							MODERATE	1171/1752	L391F	MRRP3_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000440915	8.24E-06	CCDS32063.1			1	
KIAA1549L	0	LGGM	GRCh37	11	33628298	33628298	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	12	.	.	ENST00000321505.4:c.4100C>A	p.Pro1367His	p.P1367H	ENST00000321505		1367	cCc/cAc	0	1	1	UPI0000E59322	0	NA	ENST00000321505		ENSG00000110427	24836		33	2.51		HGNC	p.P1367H		KIAA1549L		SNV							ENST00000321505	protein_coding	getma.org/?cm=var&var=hg19,11,33628298,C,A&fts=all		Pfam_domain:PF12877,hmmpanther:PTHR21590,hmmpanther:PTHR21590:SF3		P/H		A	medium	4280/11678		getma.org/?cm=msa&ty=f&p=CK041_HUMAN&rb=930&re=1569&var=P1367H	deleterious(0)				YES	KIAA1549L,missense_variant,p.Pro1367His,ENST00000321505,;KIAA1549L,missense_variant,p.Pro1373His,ENST00000389726,NM_012194.2;KIAA1549L,missense_variant,p.Pro765His,ENST00000526400,;							MODERATE	4100/5550	P1367H	K154L_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000315295		CCDS44565.2			1	
DOPEY1	0	LGGM	GRCh37	6	83847772	83847772	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	71	12	.	.	ENST00000349129.2:c.4011T>G	p.Cys1337Trp	p.C1337W	ENST00000349129	NM_015018.3	1337	tgT/tgG	0	1	1	UPI00001C1574	0	NA	ENST00000349129		ENSG00000083097	21194		83	0.55		HGNC	p.C1318W		DOPEY1		SNV							ENST00000237163	protein_coding	getma.org/?cm=var&var=hg19,6,83847772,T,G&fts=all		hmmpanther:PTHR14042:SF22,hmmpanther:PTHR14042		C/W		G	neutral	4271/8210		getma.org/?cm=msa&ty=f&p=DOP1_HUMAN&rb=1306&re=1359&var=C1337W	deleterious_low_confidence(0)				YES	DOPEY1,missense_variant,p.Cys1337Trp,ENST00000349129,NM_015018.3;DOPEY1,missense_variant,p.Cys1328Trp,ENST00000369739,NM_001199942.1;DOPEY1,missense_variant,p.Cys1318Trp,ENST00000237163,;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,;DOPEY1,downstream_gene_variant,,ENST00000493541,;							MODERATE	4011/7398	C1337W	DOP1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000195654		CCDS4996.1			1	
CNOT4	0	LGGM	GRCh37	7	135078901	135078901	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	12	.	.	ENST00000541284.1:c.1396A>G	p.Asn466Asp	p.N466D	ENST00000541284	NM_001190849.1	466	Aat/Gat	0	1		UPI000020FB5C	0	NA	ENST00000315544		ENSG00000080802	7880		56	0.345		HGNC	p.N463D		CNOT4		SNV							ENST00000428680	protein_coding	getma.org/?cm=var&var=hg19,7,135078901,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR12603:SF2,hmmpanther:PTHR12603		N/D		C	neutral	1676/4631		getma.org/?cm=msa&ty=f&p=CNOT4_HUMAN&rb=223&re=541&var=N466D	tolerated_low_confidence(0.3)					CNOT4,missense_variant,p.Asn463Asp,ENST00000428680,NM_001008225.2;CNOT4,missense_variant,p.Asn466Asp,ENST00000315544,NM_001190848.1;CNOT4,missense_variant,p.Asn466Asp,ENST00000541284,NM_001190849.1,NM_001190850.1;CNOT4,missense_variant,p.Asn463Asp,ENST00000451834,;CNOT4,missense_variant,p.Asn466Asp,ENST00000423368,NM_001190847.1,NM_013316.3;CNOT4,missense_variant,p.Asn463Asp,ENST00000361528,;CNOT4,intron_variant,,ENST00000414802,;CNOT4,intron_variant,,ENST00000356162,;							MODERATE	1396/1728	N466D	CNOT4_HUMAN			Transcript		benign(0.01)	.	ENSP00000326731		CCDS55166.1			1	
WDFY4	0	LGGM	GRCh37	10	50154173	50154173	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	12	.	.	ENST00000325239.5:c.7838A>T	p.Gln2613Leu	p.Q2613L	ENST00000325239	NM_020945.1	2613	cAg/cTg	0	1	1	UPI000176ADB8	0	getma.org/pdb.php?prot=WDFY4_HUMAN&from=2539&to=2821&var=Q2613L	ENST00000325239		ENSG00000128815	29323		24	1.82		HGNC	p.Q2613L		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,50154173,A,T&fts=all		PROSITE_profiles:PS50197,hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743,Gene3D:1t77A02,Pfam_domain:PF02138,SMART_domains:SM01026,Superfamily_domains:SSF81837		Q/L		T	low	7865/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=2539&re=2821&var=Q2613L	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Gln2613Leu,ENST00000325239,NM_020945.1;WDFY4,missense_variant,p.Gln700Leu,ENST00000265453,;WDFY4,3_prime_UTR_variant,,ENST00000413659,;WDFY4,non_coding_transcript_exon_variant,,ENST00000465910,;							MODERATE	7838/9555	Q2613L	WDFY4_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000320563		CCDS44385.1			1	
CD1A	0	LGGM	GRCh37	1	158226599	158226599	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	12	.	.	ENST00000289429.5:c.628C>T	p.His210Tyr	p.H210Y	ENST00000289429	NM_001763.2	210	Cat/Tat	0	1	1	UPI0000161A54	0	getma.org/pdb.php?prot=CD1A_HUMAN&from=210&to=291&var=H210Y	ENST00000289429		ENSG00000158477	1634		50	0.345		HGNC	p.H210Y		CD1A		SNV							ENST00000289429	protein_coding	getma.org/?cm=var&var=hg19,1,158226599,C,T&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50835,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,Superfamily_domains:SSF48726		H/Y		T	neutral	1161/2096		getma.org/?cm=msa&ty=f&p=CD1A_HUMAN&rb=210&re=291&var=H210Y	deleterious(0)				YES	CD1A,missense_variant,p.His210Tyr,ENST00000289429,NM_001763.2;							MODERATE	628/984	H210Y	CD1A_HUMAN			Transcript		benign(0.002)	.	ENSP00000289429		CCDS1174.1			1	
HTR3E	0	LGGM	GRCh37	3	183824044	183824044	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	14	12	.	.	ENST00000440596.2:c.1132C>A	p.Leu378Ile	p.L378I	ENST00000440596	NM_001256614.1	378	Ctc/Atc	0	1		UPI000156575F	0	NA	ENST00000415389		ENSG00000186038	24005		26	2.56		HGNC	p.L352I		HTR3E		SNV							ENST00000436361	protein_coding	getma.org/?cm=var&var=hg19,3,183824044,C,A&fts=all		hmmpanther:PTHR18945:SF378,hmmpanther:PTHR18945,Pfam_domain:PF02932,Superfamily_domains:SSF90112		L/I		A	medium	1520/2139		getma.org/?cm=msa&ty=f&p=5HT3E_HUMAN&rb=254&re=454&var=L352I	deleterious(0.04)	C9J420_HUMAN				HTR3E,missense_variant,p.Leu352Ile,ENST00000415389,NM_001256613.1,NM_198313.2;HTR3E,missense_variant,p.Leu367Ile,ENST00000335304,NM_182589.2,NM_198314.2;HTR3E,missense_variant,p.Leu378Ile,ENST00000440596,NM_001256614.1;HTR3E,missense_variant,p.Leu352Ile,ENST00000436361,;HTR3E,missense_variant,p.Leu337Ile,ENST00000425359,;HTR3E,downstream_gene_variant,,ENST00000431041,;HTR3E-AS1,upstream_gene_variant,,ENST00000431427,;							MODERATE	1054/1371	L352I	5HT3E_HUMAN			Transcript		probably_damaging(0.986)	.	ENSP00000401444		CCDS58868.1			1	
LIMK1	0	LGGM	GRCh37	7	73520463	73520463	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	12	.	.	ENST00000336180.2:c.771C>T	p.Asp257=	p.D257=	ENST00000336180	NM_002314.3	257	gaC/gaT	0	1	1	UPI000013D678	0		ENST00000336180		ENSG00000106683	6613		62			HGNC	p.D257D		LIMK1		SNV			1				ENST00000435201	protein_coding			Gene3D:2.30.42.10,PROSITE_profiles:PS50106,hmmpanther:PTHR23257,hmmpanther:PTHR23257:SF379,SMART_domains:SM00228,Superfamily_domains:SSF50156		D		T		822/3219				Q75MU4_HUMAN			YES	LIMK1,synonymous_variant,p.=,ENST00000418310,;LIMK1,synonymous_variant,p.=,ENST00000336180,NM_002314.3;LIMK1,synonymous_variant,p.=,ENST00000538333,NM_001204426.1;LIMK1,downstream_gene_variant,,ENST00000491052,;LIMK1,synonymous_variant,p.=,ENST00000435201,;LIMK1,non_coding_transcript_exon_variant,,ENST00000483414,;							LOW	771/1944		LIMK1_HUMAN			Transcript			.	ENSP00000336740		CCDS5563.1			1	
RPL37A	0	LGGM	GRCh37	2	217364088	217364088	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	12	.	.	ENST00000491306.1:c.99G>A	p.Gln33=	p.Q33=	ENST00000491306	NM_000998.4	33	caG/caA	0	1	1	UPI0000003E77	0		ENST00000491306		ENSG00000197756	10348		72			HGNC	p.Q9Q		RPL37A		SNV							ENST00000441179	protein_coding			HAMAP:MF_00327,hmmpanther:PTHR11517,TIGRFAM_domain:TIGR00280,Pfam_domain:PF01780,Gene3D:2.20.25.30,Superfamily_domains:SSF57829		Q		A		785/3112				C9J4Z3_HUMAN			YES	RPL37A,synonymous_variant,p.=,ENST00000491306,NM_000998.4;RPL37A,synonymous_variant,p.=,ENST00000427280,;RPL37A,synonymous_variant,p.=,ENST00000598925,;RPL37A,synonymous_variant,p.=,ENST00000441179,;RPL37A,synonymous_variant,p.=,ENST00000446558,;RPL37A,synonymous_variant,p.=,ENST00000600880,;RPL37A,synonymous_variant,p.=,ENST00000456586,;AC098820.3,upstream_gene_variant,,ENST00000438978,;AC098820.3,upstream_gene_variant,,ENST00000453157,;RPL37A,synonymous_variant,p.=,ENST00000420712,;RPL37A,non_coding_transcript_exon_variant,,ENST00000487233,;RPL37A,non_coding_transcript_exon_variant,,ENST00000478153,;RPL37A,non_coding_transcript_exon_variant,,ENST00000490649,;RPL37A,non_coding_transcript_exon_variant,,ENST00000359681,;AC098820.3,upstream_gene_variant,,ENST00000431856,;							LOW	99/279		RL37A_HUMAN			Transcript			.	ENSP00000418082		CCDS2404.1			1	
PAIP1	0	LGGM	GRCh37	5	43539106	43539106	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	80	12	.	.	ENST00000306846.3:c.766G>A	p.Ala256Thr	p.A256T	ENST00000306846	NM_006451.4	256	Gct/Act	0	1	1	UPI00000728C0	0	getma.org/pdb.php?prot=PAIP1_HUMAN&from=159&to=376&var=A256T	ENST00000306846		ENSG00000172239	16945		92	2.64		HGNC	p.A144T		PAIP1		SNV							ENST00000338972	protein_coding	getma.org/?cm=var&var=hg19,5,43539106,C,T&fts=all		hmmpanther:PTHR23254,Gene3D:1.25.40.180,Pfam_domain:PF02854,SMART_domains:SM00543,Superfamily_domains:SSF48371		A/T		T	medium	999/2782		getma.org/?cm=msa&ty=f&p=PAIP1_HUMAN&rb=159&re=376&var=A256T	deleterious(0.05)	D6RJF2_HUMAN,D6RJ02_HUMAN,D6RD97_HUMAN			YES	PAIP1,missense_variant,p.Ala256Thr,ENST00000306846,NM_006451.4,NM_182789.3;PAIP1,missense_variant,p.Ala144Thr,ENST00000338972,NM_183323.2;PAIP1,missense_variant,p.Ala177Thr,ENST00000436644,;PAIP1,missense_variant,p.Ala177Thr,ENST00000514514,;PAIP1,missense_variant,p.Ala144Thr,ENST00000508537,;PAIP1,missense_variant,p.Ala144Thr,ENST00000511321,;PAIP1,downstream_gene_variant,,ENST00000504075,;PAIP1,intron_variant,,ENST00000504639,;							MODERATE	766/1440	A256T	PAIP1_HUMAN			Transcript		probably_damaging(0.946)	.	ENSP00000302768		CCDS3947.1			1	
DMTF1	0	LGGM	GRCh37	7	86823168	86823168	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	12	.	.	ENST00000394703.5:c.1778G>A	p.Ser593Asn	p.S593N	ENST00000394703	NM_021145.3	593	aGt/aAt	0	1		UPI000006FB78	0	NA	ENST00000331242		ENSG00000135164	14603		51	0.55		HGNC	p.S593N		DMTF1		SNV							ENST00000394703	protein_coding	getma.org/?cm=var&var=hg19,7,86823168,G,A&fts=all		hmmpanther:PTHR10641:SF463,hmmpanther:PTHR10641		S/N		A	neutral	2104/3801		getma.org/?cm=msa&ty=f&p=DMTF1_HUMAN&rb=530&re=623&var=S593N	tolerated_low_confidence(0.06)	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				DMTF1,missense_variant,p.Ser327Asn,ENST00000414194,;DMTF1,missense_variant,p.Ser593Asn,ENST00000394703,NM_021145.3;DMTF1,missense_variant,p.Ser593Asn,ENST00000331242,NM_001142326.1,NM_001142327.1;DMTF1,missense_variant,p.Ser523Asn,ENST00000413276,;DMTF1,missense_variant,p.Ser505Asn,ENST00000432937,;DMTF1,missense_variant,p.Ser61Asn,ENST00000454008,;DMTF1,missense_variant,p.Ser43Asn,ENST00000582204,;TMEM243,downstream_gene_variant,,ENST00000433078,;TMEM243,downstream_gene_variant,,ENST00000257637,NM_024315.2;TMEM243,downstream_gene_variant,,ENST00000423734,;TMEM243,downstream_gene_variant,,ENST00000481425,;TMEM243,downstream_gene_variant,,ENST00000465976,;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,,ENST00000547146,;DMTF1,3_prime_UTR_variant,,ENST00000579850,;DMTF1,non_coding_transcript_exon_variant,,ENST00000488352,;DMTF1,downstream_gene_variant,,ENST00000480982,;DMTF1,upstream_gene_variant,,ENST00000580010,;DMTF1,downstream_gene_variant,,ENST00000584619,;TMEM243,downstream_gene_variant,,ENST00000474074,;TMEM243,downstream_gene_variant,,ENST00000492231,;DMTF1,downstream_gene_variant,,ENST00000580803,;							MODERATE	1778/2283	S593N	DMTF1_HUMAN			Transcript		benign(0.046)	.	ENSP00000332171		CCDS5601.1			1	
GNB2	0	LGGM	GRCh37	7	100275904	100275904	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	12	.	.	ENST00000303210.4:c.681C>T	p.Ser227=	p.S227=	ENST00000303210	NM_005273.3	227	tcC/tcT	0	1	1	UPI0000000934	0		ENST00000303210		ENSG00000172354	4398		53			HGNC	p.S127S	rs770626958	GNB2		SNV							ENST00000419828	protein_coding			Gene3D:2.130.10.10,Pfam_domain:PF00400,PIRSF_domain:PIRSF002394,PROSITE_profiles:PS50082,PROSITE_profiles:PS50294,hmmpanther:PTHR19850,hmmpanther:PTHR19850:SF27,SMART_domains:SM00320,Superfamily_domains:SSF50978		S		T		1163/1878	1.50E-05			Q6FHM2_HUMAN,E7EP32_HUMAN,C9JZN1_HUMAN,C9JXA5_HUMAN,C9JIS1_HUMAN,B3KPU1_HUMAN			YES	GNB2,synonymous_variant,p.=,ENST00000303210,NM_005273.3;GNB2,synonymous_variant,p.=,ENST00000393926,;GNB2,synonymous_variant,p.=,ENST00000393924,;GNB2,synonymous_variant,p.=,ENST00000436220,;GNB2,synonymous_variant,p.=,ENST00000424361,;GNB2,synonymous_variant,p.=,ENST00000419828,;GNB2,synonymous_variant,p.=,ENST00000427895,;GNB2,synonymous_variant,p.=,ENST00000431068,;GNB2,synonymous_variant,p.=,ENST00000451587,;GIGYF1,downstream_gene_variant,,ENST00000275732,NM_022574.4;GNB2,downstream_gene_variant,,ENST00000412215,;GNB2,non_coding_transcript_exon_variant,,ENST00000469287,;GNB2,non_coding_transcript_exon_variant,,ENST00000470354,;GNB2,downstream_gene_variant,,ENST00000480159,;							LOW	681/1023		GBB2_HUMAN			Transcript			.	ENSP00000305260	8.24E-06	CCDS5703.1			1	
ANKRD46	0	LGGM	GRCh37	8	101540188	101540188	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	12	.	.	ENST00000520552.1:c.355G>A	p.Gly119Arg	p.G119R	ENST00000520552	NM_001270379.1	119	Gga/Aga	0	1	1	UPI000018CE82	0	NA	ENST00000520552		ENSG00000186106	27229		60	1.965		HGNC	p.G119R		ANKRD46		SNV							ENST00000520552	protein_coding	getma.org/?cm=var&var=hg19,8,101540188,C,T&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24166,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		G/R		T	medium	517/1686		getma.org/?cm=msa&ty=f&p=ANR46_HUMAN&rb=86&re=232&var=G119R	deleterious(0)	J3KP26_HUMAN,E5RI20_HUMAN,E5RHV2_HUMAN,E5RFM7_HUMAN			YES	ANKRD46,missense_variant,p.Gly119Arg,ENST00000520311,NM_001270378.1;ANKRD46,missense_variant,p.Gly119Arg,ENST00000519597,NM_198401.3;ANKRD46,missense_variant,p.Gly119Arg,ENST00000335659,NM_001270377.1;ANKRD46,missense_variant,p.Gly119Arg,ENST00000520552,NM_001270379.1;ANKRD46,missense_variant,p.Gly119Arg,ENST00000358990,;ANKRD46,intron_variant,,ENST00000519316,;ANKRD46,downstream_gene_variant,,ENST00000521345,;ANKRD46,downstream_gene_variant,,ENST00000524072,;ANKRD46,downstream_gene_variant,,ENST00000523000,;							MODERATE	355/699	G119R	ANR46_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000429015		CCDS59109.1			1	
USH2A	0	LGGM	GRCh37	1	216052250	216052250	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	115	12	.	.	ENST00000307340.3:c.8414G>A	p.Gly2805Glu	p.G2805E	ENST00000307340	NM_206933.2	2805	gGg/gAg	0	1	1	UPI000034E5B6	0	NA	ENST00000307340		ENSG00000042781	12601		127	3.045		HGNC	p.G2805E		USH2A		SNV			1				ENST00000366943	protein_coding	getma.org/?cm=var&var=hg19,1,216052250,C,T&fts=all		Superfamily_domains:SSF49265,Gene3D:2.60.40.10,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170,PROSITE_profiles:PS50853		G/E		T	medium	8801/18883		getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=2724&re=2812&var=G2805E					YES	USH2A,missense_variant,p.Gly2805Glu,ENST00000366943,;USH2A,missense_variant,p.Gly2805Glu,ENST00000307340,NM_206933.2;							MODERATE	8414/15609	G2805E	USH2A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000305941		CCDS31025.1			1	
AC021218.2	0	LGGM	GRCh37	7	155755621	155755621	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	12	.	.	ENST00000377722.2:c.98G>A	p.Arg33His	p.R33H	ENST00000377722		33	cGt/cAt	0	1	1	UPI00002373AA	0		ENST00000377722		ENSG00000204876			37			Clone_based_vega_gene	p.R33H		AC021218.2		SNV							ENST00000377722	protein_coding					R/H		A		296/2536				E9PBC9_HUMAN			YES	AC021218.2,missense_variant,p.Arg33His,ENST00000377722,;							MODERATE	98/897					Transcript		possibly_damaging(0.711)	.	ENSP00000366951					1	
DCDC1	0	LGGM	GRCh37	11	30953346	30953346	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	12	.	.	ENST00000339794.5:c.106C>T	p.Pro36Ser	p.P36S	ENST00000339794		36	Cca/Tca	0	1	1	UPI0002A47319	0	NA	ENST00000597505		ENSG00000170959	20625		82	2.015		HGNC	p.P36S		DCDC1		SNV							ENST00000339794	protein_coding	getma.org/?cm=var&var=hg19,11,30953346,G,A&fts=all		PROSITE_profiles:PS50309,Gene3D:1mfwA00,SMART_domains:SM00537,Superfamily_domains:SSF89837		P/S		A	medium	2869/5352		getma.org/?cm=msa&ty=f&p=DCDC5_HUMAN&rb=4&re=94&var=P36S	deleterious(0.02)	M0R2J8_HUMAN				DCDC1,missense_variant,p.Pro957Ser,ENST00000597505,;DCDC1,missense_variant,p.Pro36Ser,ENST00000339794,;DCDC1,5_prime_UTR_variant,,ENST00000406071,;DCDC1,non_coding_transcript_exon_variant,,ENST00000437348,;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,;							MODERATE	2869/5352	P36S				Transcript		benign(0.261)	.	ENSP00000472625					1	
CHIT1	0	LGGM	GRCh37	1	203186148	203186148	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	12	.	.	ENST00000367229.1:c.1270G>A	p.Ala424Thr	p.A424T	ENST00000367229	NM_003465.2	424	Gct/Act	0	1	1	UPI00000399C1	0	NA	ENST00000367229		ENSG00000133063	1936		67	2.135		HGNC	p.A405T		CHIT1		SNV			1				ENST00000255427	protein_coding	getma.org/?cm=var&var=hg19,1,203186148,C,T&fts=all		Superfamily_domains:SSF57625,SMART_domains:SM00494,Gene3D:1dqcA00,Pfam_domain:PF01607,hmmpanther:PTHR11177,hmmpanther:PTHR11177:SF108,PROSITE_profiles:PS50940		A/T		T	medium	1305/2246		getma.org/?cm=msa&ty=f&p=CHIT1_HUMAN&rb=420&re=466&var=A424T	tolerated(0.08)				YES	CHIT1,missense_variant,p.Ala424Thr,ENST00000367229,NM_003465.2,NM_001270509.1;CHIT1,missense_variant,p.Ala405Thr,ENST00000255427,;CHIT1,missense_variant,p.Ala415Thr,ENST00000535569,NM_001256125.1;CHIT1,intron_variant,,ENST00000484834,;CHIT1,intron_variant,,ENST00000479483,;CHIT1,downstream_gene_variant,,ENST00000506427,;CHIT1,3_prime_UTR_variant,,ENST00000491855,;CHIT1,3_prime_UTR_variant,,ENST00000503786,;							MODERATE	1270/1401	A424T	CHIT1_HUMAN			Transcript		benign(0.29)	.	ENSP00000356198		CCDS1436.1			1	
CPSF6	0	LGGM	GRCh37	12	69650616	69650616	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	12	.	.	ENST00000435070.2:c.514A>T	p.Arg172Trp	p.R172W	ENST00000435070	NM_007007.2	172	Agg/Tgg	0	1	1	UPI00001FC746	0	getma.org/pdb.php?prot=CPSF6_HUMAN&from=154&to=353&var=R172W	ENST00000435070		ENSG00000111605	13871		52	2.085		HGNC	p.R172W		CPSF6		SNV							ENST00000456847	protein_coding	getma.org/?cm=var&var=hg19,12,69650616,A,T&fts=all		hmmpanther:PTHR23204,hmmpanther:PTHR23204:SF3,Gene3D:3.30.70.330,Superfamily_domains:SSF54928		R/W		T	medium	624/6616		getma.org/?cm=msa&ty=f&p=CPSF6_HUMAN&rb=154&re=353&var=R172W	deleterious(0)				YES	CPSF6,missense_variant,p.Arg172Trp,ENST00000435070,NM_007007.2;CPSF6,missense_variant,p.Arg172Trp,ENST00000266679,;CPSF6,missense_variant,p.Arg172Trp,ENST00000456847,;CPSF6,intron_variant,,ENST00000551516,;CPSF6,downstream_gene_variant,,ENST00000550987,;CPSF6,non_coding_transcript_exon_variant,,ENST00000547486,;CPSF6,downstream_gene_variant,,ENST00000550075,;							MODERATE	514/1656	R172W	CPSF6_HUMAN			Transcript		unknown(0)	.	ENSP00000391774		CCDS8988.1			1	
ATM	0	LGGM	GRCh37	11	108115551	108115551	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	12	.	.	ENST00000278616.4:c.699A>T	p.Leu233Phe	p.L233F	ENST00000278616	NM_000051.3	233	ttA/ttT	0	1	1	UPI0000DBEF44	0	NA	ENST00000278616		ENSG00000149311	795		50	1.995		HGNC	p.L233F		ATM		SNV			1				ENST00000527805	protein_coding	getma.org/?cm=var&var=hg19,11,108115551,A,T&fts=all		hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66		L/F		T	medium	1084/13147		getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=167&re=366&var=L233F	tolerated(0.06)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,missense_variant,p.Leu233Phe,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Leu233Phe,ENST00000452508,;ATM,missense_variant,p.Leu233Phe,ENST00000527805,;ATM,downstream_gene_variant,,ENST00000527891,;							MODERATE	699/9171	L233F	ATM_HUMAN			Transcript		benign(0.178)	.	ENSP00000278616		CCDS31669.1			1	
TAS2R3	0	LGGM	GRCh37	7	141464473	141464473	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	12	.	.	ENST00000247879.2:c.515G>A	p.Arg172Lys	p.R172K	ENST00000247879	NM_016943.2	172	aGa/aAa	0	1	1	UPI0000038B0B	0	NA	ENST00000247879		ENSG00000127362	14910		62	0.62		HGNC	p.R172K		TAS2R3		SNV							ENST00000247879	protein_coding	getma.org/?cm=var&var=hg19,7,141464473,G,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF05296,hmmpanther:PTHR11394,hmmpanther:PTHR11394:SF49,Superfamily_domains:SSF81321		R/K		A	neutral	577/1101		getma.org/?cm=msa&ty=f&p=TA2R3_HUMAN&rb=1&re=303&var=R172K	tolerated(0.09)	Q50KY9_HUMAN			YES	TAS2R3,missense_variant,p.Arg172Lys,ENST00000247879,NM_016943.2;SSBP1,intron_variant,,ENST00000465582,;							MODERATE	515/951	R172K	TA2R3_HUMAN			Transcript		benign(0.134)	.	ENSP00000247879		CCDS5867.1			1	
POLN	0	LGGM	GRCh37	4	2178012	2178012	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	12	.	.	ENST00000511885.2:c.1229A>G	p.Asp410Gly	p.D410G	ENST00000511885		410	gAc/gGc	0	1		UPI0000246FC3	0	NA	ENST00000382865		ENSG00000130997	18870		68	-0.055		HGNC	p.D410G		POLN		SNV							ENST00000511885	protein_coding	getma.org/?cm=var&var=hg19,4,2178012,T,C&fts=all		hmmpanther:PTHR10133:SF27,hmmpanther:PTHR10133,Gene3D:3.30.420.10		D/G		C	neutral	1229/2899		getma.org/?cm=msa&ty=f&p=DPOLN_HUMAN&rb=401&re=444&var=D410G	tolerated(0.32)					POLN,missense_variant,p.Asp410Gly,ENST00000511885,;POLN,missense_variant,p.Asp410Gly,ENST00000382865,NM_181808.2;POLN,missense_variant,p.Asp44Gly,ENST00000511098,;POLN,non_coding_transcript_exon_variant,,ENST00000515357,;POLN,intron_variant,,ENST00000514858,;							MODERATE	1229/2703	D410G	DPOLN_HUMAN			Transcript		benign(0.002)	.	ENSP00000372316		CCDS3360.1			1	
SCGB1D1	0	LGGM	GRCh37	11	61959555	61959555	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	12	.	.	ENST00000306238.3:c.83G>A	p.Gly28Asp	p.G28D	ENST00000306238	NM_006552.1	28	gGt/gAt	0	1	1	UPI000012E869	0		ENST00000306238		ENSG00000168515	18395		49			HGNC	p.G28D		SCGB1D1		SNV							ENST00000306238	protein_coding			PROSITE_profiles:PS51311,hmmpanther:PTHR11332:SF5,hmmpanther:PTHR11332,Pfam_domain:PF01099,Gene3D:1utgA00,Superfamily_domains:SSF48201		G/D		A		152/453			tolerated(0.12)				YES	SCGB1D1,missense_variant,p.Gly28Asp,ENST00000306238,NM_006552.1;							MODERATE	83/273		SG1D1_HUMAN			Transcript		benign(0.078)	.	ENSP00000303070		CCDS8015.1			1	
HIST2H2BE	0	LGGM	GRCh37	1	149857850	149857850	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	12	.	.	ENST00000369155.2:c.341A>T	p.Glu114Val	p.E114V	ENST00000369155	NM_003528.2	114	gAg/gTg	0	1	1	UPI0000000C6F	0	getma.org/pdb.php?prot=H2B2E_HUMAN&from=103&to=126&var=E114V	ENST00000369155		ENSG00000184678	4760		49	3.98		HGNC	p.E114V		HIST2H2BE		SNV							ENST00000369155	protein_coding	getma.org/?cm=var&var=hg19,1,149857850,T,A&fts=all		hmmpanther:PTHR23428,PROSITE_patterns:PS00357,Gene3D:1.10.20.10,SMART_domains:SM00427,Superfamily_domains:SSF47113,Prints_domain:PR00621		E/V		A	high	383/2223		getma.org/?cm=msa&ty=f&p=H2B2E_HUMAN&rb=73&re=126&var=E114V	deleterious_low_confidence(0)				YES	HIST2H2BE,missense_variant,p.Glu114Val,ENST00000369155,NM_003528.2;BOLA1,upstream_gene_variant,,ENST00000369153,;HIST2H2AB,downstream_gene_variant,,ENST00000331128,NM_175065.2;HIST2H2AC,upstream_gene_variant,,ENST00000331380,NM_003517.2;							MODERATE	341/381	E114V	H2B2E_HUMAN			Transcript		possibly_damaging(0.769)	.	ENSP00000358151		CCDS936.1			1	
MEST	0	LGGM	GRCh37	7	130138274	130138274	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	12	.	.	ENST00000223215.4:c.491G>A	p.Arg164Gln	p.R164Q	ENST00000223215	NM_001253900.1	164	cGa/cAa	0	1	1	UPI000006DE62	0	getma.org/pdb.php?prot=MEST_HUMAN&from=72&to=327&var=R164Q	ENST00000223215		ENSG00000106484	7028		52	0.55		HGNC	p.R155Q	rs781873430	MEST		SNV							ENST00000427521	protein_coding	getma.org/?cm=var&var=hg19,7,130138274,G,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF12697,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF25,Superfamily_domains:SSF53474		R/Q		A	neutral	712/2465	1.50E-05	getma.org/?cm=msa&ty=f&p=MEST_HUMAN&rb=72&re=327&var=R164Q	tolerated(0.18)	C9JCM6_HUMAN,C9JWU9_HUMAN,C9JUD2_HUMAN,C9JRA9_HUMAN,C9JG66_HUMAN,A4D1L9_HUMAN			YES	MEST,missense_variant,p.Arg164Gln,ENST00000223215,NM_001253900.1,NM_002402.3;MEST,missense_variant,p.Arg155Gln,ENST00000341441,NM_177524.2;MEST,missense_variant,p.Arg155Gln,ENST00000393187,NM_177525.2;MEST,missense_variant,p.Arg155Gln,ENST00000378576,;MEST,missense_variant,p.Arg155Gln,ENST00000416162,NM_001253902.1,NM_001253901.1;MEST,missense_variant,p.Arg164Gln,ENST00000437945,;MEST,missense_variant,p.Arg155Gln,ENST00000427521,;MEST,missense_variant,p.Arg155Gln,ENST00000421001,;MEST,missense_variant,p.Arg22Gln,ENST00000463263,;MEST,missense_variant,p.Arg155Gln,ENST00000433159,;MEST,missense_variant,p.Arg155Gln,ENST00000458161,;MEST,downstream_gene_variant,,ENST00000437637,;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,downstream_gene_variant,,ENST00000460590,;MEST,non_coding_transcript_exon_variant,,ENST00000475188,;MEST,non_coding_transcript_exon_variant,,ENST00000488093,;MEST,non_coding_transcript_exon_variant,,ENST00000494868,;							MODERATE	491/1008	R164Q	MEST_HUMAN			Transcript		benign(0.008)	.	ENSP00000223215	8.24E-06	CCDS5822.1			1	
SLITRK6	0	LGGM	GRCh37	13	86369151	86369151	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	12	.	.	ENST00000400286.2:c.1493C>T	p.Pro498Leu	p.P498L	ENST00000400286	NM_032229.2	498	cCt/cTt	0	1	1	UPI000004C9D6	0	getma.org/pdb.php?prot=SLIK6_HUMAN&from=459&to=518&var=P498L	ENST00000400286		ENSG00000184564	23503		57	2.98		HGNC	p.P498L	COSM3469912	SLITRK6		SNV			1			1	ENST00000400286	protein_coding	getma.org/?cm=var&var=hg19,13,86369151,G,A&fts=all		Superfamily_domains:SSF52058,Gene3D:3.80.10.10,Pfam_domain:PF13855,hmmpanther:PTHR24373:SF5,hmmpanther:PTHR24373,PROSITE_profiles:PS51450		P/L		A	medium	2092/4318		getma.org/?cm=msa&ty=f&p=SLIK6_HUMAN&rb=459&re=518&var=P498L	deleterious(0)				YES	SLITRK6,missense_variant,p.Pro498Leu,ENST00000400286,NM_032229.2;					1		MODERATE	1493/2526	P498L	SLIK6_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000383143		CCDS41903.1			1	
PNPT1	0	LGGM	GRCh37	2	55906887	55906887	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	12	.	.	ENST00000447944.2:c.609C>T	p.Asn203=	p.N203=	ENST00000447944	NM_033109.4	203	aaC/aaT	0	1		UPI000020848E	0		ENST00000415374		ENSG00000138035	23166		56			HGNC	p.N203N		PNPT1		SNV			1				ENST00000447944	nonsense_mediated_decay			Gene3D:1e3hA01,Pfam_domain:PF03725,PIRSF_domain:PIRSF005499,hmmpanther:PTHR11252,hmmpanther:PTHR11252:SF0,Superfamily_domains:SSF55666,TIGRFAM_domain:TIGR03591		N		A		609/3308								PNPT1,synonymous_variant,p.=,ENST00000447944,NM_033109.4;PNPT1,synonymous_variant,p.=,ENST00000415374,;PNPT1,3_prime_UTR_variant,,ENST00000260604,;PNPT1,3_prime_UTR_variant,,ENST00000429805,;							LOW	609/2352		PNPT1_HUMAN			Transcript			.	ENSP00000393953		CCDS1856.1			1	
CLASP1	0	LGGM	GRCh37	2	122165109	122165109	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	101	12	.	.	ENST00000263710.4:c.2607G>A	p.Trp869Ter	p.W869*	ENST00000263710	NM_015282.2	869	tgG/tgA	0	1	1	UPI00001A8BFF	0	NA	ENST00000263710		ENSG00000074054	17088		113	0		HGNC	p.W849X		CLASP1		SNV							ENST00000397587	protein_coding	getma.org/?cm=var&var=hg19,2,122165109,C,T&fts=all		hmmpanther:PTHR21567:SF28,hmmpanther:PTHR21567,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		W/*		T	NA	2997/8090		NA		C9JP76_HUMAN,C9J151_HUMAN			YES	CLASP1,stop_gained,p.Trp869Ter,ENST00000263710,NM_015282.2;CLASP1,stop_gained,p.Trp841Ter,ENST00000409078,;CLASP1,stop_gained,p.Trp841Ter,ENST00000455322,;CLASP1,stop_gained,p.Trp849Ter,ENST00000397587,NM_001142274.1,NM_001142273.1;CLASP1,stop_gained,p.Trp847Ter,ENST00000541377,NM_001207051.1;CLASP1,stop_gained,p.Trp602Ter,ENST00000541859,;CLASP1,stop_gained,p.Trp616Ter,ENST00000545861,;CLASP1,stop_gained,p.Trp174Ter,ENST00000463621,;CLASP1,stop_gained,p.Trp622Ter,ENST00000452274,;							HIGH	2607/4617	W869*	CLAP1_HUMAN			Transcript			.	ENSP00000263710					1	
FARP1	0	LGGM	GRCh37	13	98865545	98865545	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	76	12	.	.	ENST00000319562.6:c.49C>T	p.Pro17Ser	p.P17S	ENST00000319562	NM_005766.2	17	Ccg/Tcg	0	1	1	UPI000007052C	0	NA	ENST00000319562		ENSG00000152767	3591		88	1.7		HGNC	p.P17S		FARP1		SNV							ENST00000376581	protein_coding	getma.org/?cm=var&var=hg19,13,98865545,C,T&fts=all		hmmpanther:PTHR12673,hmmpanther:PTHR12673:SF105		P/S		T	low	314/4855		getma.org/?cm=msa&ty=f&p=FARP1_HUMAN&rb=1&re=43&var=P17S	tolerated(0.24)	M0QYB0_HUMAN			YES	FARP1,missense_variant,p.Pro17Ser,ENST00000376586,;FARP1,missense_variant,p.Pro17Ser,ENST00000595437,NM_001286839.1;FARP1,missense_variant,p.Pro17Ser,ENST00000319562,NM_005766.2;FARP1,missense_variant,p.Pro17Ser,ENST00000376581,NM_001001715.3;FARP1,missense_variant,p.Pro17Ser,ENST00000598389,;MIR3170,downstream_gene_variant,,ENST00000582699,;FARP1,downstream_gene_variant,,ENST00000600648,;							MODERATE	49/3138	P17S	FARP1_HUMAN			Transcript		benign(0.027)	.	ENSP00000322926		CCDS9487.1			1	
CLPX	0	LGGM	GRCh37	15	65447269	65447269	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	12	.	.	ENST00000300107.3:c.1462A>G	p.Ile488Val	p.I488V	ENST00000300107	NM_006660.3	488	Att/Gtt	0	1	1	UPI0000127B73	0	getma.org/pdb.php?prot=CLPX_HUMAN&from=284&to=503&var=I488V	ENST00000300107		ENSG00000166855	2088		62	0.72		HGNC	p.I488V		CLPX		SNV							ENST00000300107	protein_coding	getma.org/?cm=var&var=hg19,15,65447269,T,C&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF07724,hmmpanther:PTHR11262,hmmpanther:PTHR11262:SF4,Superfamily_domains:SSF52540,TIGRFAM_domain:TIGR00382		I/V		C	neutral	1651/4695		getma.org/?cm=msa&ty=f&p=CLPX_HUMAN&rb=284&re=503&var=I488V	tolerated(0.23)	H0YK07_HUMAN			YES	CLPX,missense_variant,p.Ile488Val,ENST00000300107,NM_006660.3;CLPX,3_prime_UTR_variant,,ENST00000559152,;CLPX,non_coding_transcript_exon_variant,,ENST00000560166,;CLPX,downstream_gene_variant,,ENST00000558958,;CLPX,downstream_gene_variant,,ENST00000558103,;							MODERATE	1462/1902	I488V	CLPX_HUMAN			Transcript		possibly_damaging(0.669)	.	ENSP00000300107		CCDS10202.1			1	
PBX1	0	LGGM	GRCh37	1	164815850	164815850	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	12	.	.	ENST00000420696.2:c.1230C>T	p.Thr410=	p.T410=	ENST00000420696	NM_002585.3	410	acC/acT	0	1	1	UPI00000213E1	0		ENST00000420696		ENSG00000185630	8632		68			HGNC	p.T305T		PBX1		SNV			1				ENST00000468104	protein_coding			hmmpanther:PTHR11850,hmmpanther:PTHR11850:SF58		T		T		1418/6636				Q68DD6_HUMAN,H0YLT4_HUMAN,H0YLM3_HUMAN,H0YLD4_HUMAN,H0YLB0_HUMAN,H0YKH1_HUMAN,F8WA05_HUMAN			YES	PBX1,synonymous_variant,p.=,ENST00000420696,NM_002585.3,NM_001204963.1,NM_001204961.1;PBX1,synonymous_variant,p.=,ENST00000560641,;PBX1,synonymous_variant,p.=,ENST00000559240,;PBX1,3_prime_UTR_variant,,ENST00000367897,;PBX1,intron_variant,,ENST00000540246,;PBX1,intron_variant,,ENST00000540236,;PBX1,non_coding_transcript_exon_variant,,ENST00000468104,;PBX1,non_coding_transcript_exon_variant,,ENST00000560469,;PBX1,non_coding_transcript_exon_variant,,ENST00000496120,;PBX1,intron_variant,,ENST00000558796,;PBX1,non_coding_transcript_exon_variant,,ENST00000465089,;							LOW	1230/1293		PBX1_HUMAN			Transcript			.	ENSP00000405890		CCDS1246.1			1	
KCNK5	0	LGGM	GRCh37	6	39162420	39162420	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	12	.	.	ENST00000359534.3:c.415G>A	p.Gly139Arg	p.G139R	ENST00000359534	NM_003740.3	139	Gga/Aga	0	1	1	UPI000003AFB5	0	getma.org/pdb.php?prot=KCNK5_HUMAN&from=139&to=159&var=G139R	ENST00000359534		ENSG00000164626	6280		51	0.55		HGNC	p.G139R		KCNK5		SNV							ENST00000359534	protein_coding	getma.org/?cm=var&var=hg19,6,39162420,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11003,hmmpanther:PTHR11003:SF22,Gene3D:1.10.287.70,Superfamily_domains:SSF81324,Prints_domain:PR01095		G/R		T	neutral	754/3756		getma.org/?cm=msa&ty=f&p=KCNK5_HUMAN&rb=109&re=189&var=G139R	deleterious(0.02)				YES	KCNK5,missense_variant,p.Gly139Arg,ENST00000359534,NM_003740.3;							MODERATE	415/1500	G139R	KCNK5_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000352527		CCDS4841.1			1	
CCNF	0	LGGM	GRCh37	16	2487150	2487150	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	12	.	.	ENST00000397066.4:c.367C>T	p.Arg123Cys	p.R123C	ENST00000397066	NM_001761.2	123	Cgc/Tgc	0	1	1	UPI0000127595	0	NA	ENST00000397066		ENSG00000162063	1591	8.66E-05	55	1.25		HGNC	p.R123C	rs552825346	CCNF		SNV							ENST00000397066	protein_coding	getma.org/?cm=var&var=hg19,16,2487150,C,T&fts=all	T:0	hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF183		R/C		T	low	455/4283	1.52E-05	getma.org/?cm=msa&ty=f&p=CCNF_HUMAN&rb=72&re=271&var=R123C	deleterious(0.04)		T:0.0014	T:0	YES	CCNF,missense_variant,p.Arg123Cys,ENST00000397066,NM_001761.2;CCNF,3_prime_UTR_variant,,ENST00000293968,;CCNF,non_coding_transcript_exon_variant,,ENST00000564333,;CCNF,downstream_gene_variant,,ENST00000569093,;	0.000347	T:0.0002					MODERATE	367/2361	R123C	CCNF_HUMAN	0.000151	T:0	Transcript		benign(0.022)	.	ENSP00000380256	4.94E-05	CCDS10467.1		T:0	1	
ZFAND2B	0	LGGM	GRCh37	2	220072101	220072101	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	12	.	.	ENST00000289528.5:c.108T>C	p.His36=	p.H36=	ENST00000289528	NM_001270999.1	36	caT/caC	0	1	1	UPI000004CC12	0		ENST00000289528		ENSG00000158552	25206		31			HGNC	p.H36H		ZFAND2B		SNV							ENST00000409336	protein_coding			Superfamily_domains:SSF118310,SMART_domains:SM00154,Gene3D:4.10.1110.10,Pfam_domain:PF01428,hmmpanther:PTHR14677:SF13,hmmpanther:PTHR14677,PROSITE_profiles:PS51039		H		C		303/1314				C9J1R6_HUMAN,B8ZZ56_HUMAN			YES	ZFAND2B,synonymous_variant,p.=,ENST00000409594,;ZFAND2B,synonymous_variant,p.=,ENST00000409097,;ZFAND2B,synonymous_variant,p.=,ENST00000444522,;ZFAND2B,synonymous_variant,p.=,ENST00000289528,NM_001270999.1,NM_138802.2,NM_001270998.1;ZFAND2B,synonymous_variant,p.=,ENST00000409206,;ZFAND2B,synonymous_variant,p.=,ENST00000409336,;ZFAND2B,synonymous_variant,p.=,ENST00000409217,;ZFAND2B,synonymous_variant,p.=,ENST00000409319,;ZFAND2B,synonymous_variant,p.=,ENST00000436556,;ZFAND2B,synonymous_variant,p.=,ENST00000422255,;ZFAND2B,synonymous_variant,p.=,ENST00000409412,;ABCB6,downstream_gene_variant,,ENST00000265316,NM_005689.2;ABCB6,downstream_gene_variant,,ENST00000439002,;ABCB6,downstream_gene_variant,,ENST00000295750,;ZFAND2B,upstream_gene_variant,,ENST00000425849,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000468301,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000469596,;ZFAND2B,synonymous_variant,p.=,ENST00000448496,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000464902,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000475533,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000486734,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000489197,;ZFAND2B,non_coding_transcript_exon_variant,,ENST00000476713,;ATG9A,downstream_gene_variant,,ENST00000446716,;ABCB6,downstream_gene_variant,,ENST00000497882,;ABCB6,downstream_gene_variant,,ENST00000485773,;ABCB6,downstream_gene_variant,,ENST00000492543,;ABCB6,downstream_gene_variant,,ENST00000487380,;ABCB6,downstream_gene_variant,,ENST00000443805,;							LOW	108/774		ZFN2B_HUMAN			Transcript			.	ENSP00000289528		CCDS2435.1			1	
FAM83B	0	LGGM	GRCh37	6	54804932	54804932	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	12	.	.	ENST00000306858.7:c.1163G>C	p.Ser388Thr	p.S388T	ENST00000306858	NM_001010872.2	388	aGt/aCt	0	1	1	UPI00001D81EC	0	NA	ENST00000306858		ENSG00000168143	21357		61	2.28		HGNC	p.S388T		FAM83B		SNV							ENST00000306858	protein_coding	getma.org/?cm=var&var=hg19,6,54804932,G,C&fts=all		hmmpanther:PTHR16181,hmmpanther:PTHR16181:SF4		S/T		C	medium	1279/3167		getma.org/?cm=msa&ty=f&p=FA83B_HUMAN&rb=296&re=475&var=S388T	deleterious(0)				YES	FAM83B,missense_variant,p.Ser388Thr,ENST00000306858,NM_001010872.2;RP3-523K23.2,upstream_gene_variant,,ENST00000562834,;							MODERATE	1163/3036	S388T	FA83B_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000304078		CCDS34479.1			1	
C6orf222	0	LGGM	GRCh37	6	36291306	36291306	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	12	.	.	ENST00000437635.2:c.1235C>T	p.Pro412Leu	p.P412L	ENST00000437635	NM_001010903.4	412	cCt/cTt	0	1	1	UPI000022CB9B	0	NA	ENST00000437635		ENSG00000189325	33769		56	-1.155		HGNC	p.P412L		C6orf222		SNV							ENST00000437635	protein_coding	getma.org/?cm=var&var=hg19,6,36291306,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22435,hmmpanther:PTHR22435:SF0		P/L		A	neutral	1413/3736		getma.org/?cm=msa&ty=f&p=CF222_HUMAN&rb=98&re=624&var=P412L	tolerated(0.86)				YES	C6orf222,missense_variant,p.Pro412Leu,ENST00000437635,NM_001010903.4;							MODERATE	1235/1959	P412L	CF222_HUMAN			Transcript		benign(0.001)	.	ENSP00000418983		CCDS34439.1			1	
SLC4A7	0	LGGM	GRCh37	3	27477960	27477960	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	12	.	.	ENST00000295736.5:c.481A>T	p.Ser161Cys	p.S161C	ENST00000295736	NM_003615.4	161	Agt/Tgt	0	1	1	UPI0000DBEEB7	0	NA	ENST00000295736		ENSG00000033867	11033		36	3.17		HGNC	p.S161C		SLC4A7		SNV							ENST00000428179	protein_coding	getma.org/?cm=var&var=hg19,3,27477960,T,A&fts=all		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Superfamily_domains:SSF55804		S/C		A	medium	552/7757		getma.org/?cm=msa&ty=f&p=S4A7_HUMAN&rb=141&re=532&var=S161C	deleterious(0)				YES	SLC4A7,missense_variant,p.Ser161Cys,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Ser161Cys,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Ser170Cys,ENST00000454389,;SLC4A7,missense_variant,p.Ser170Cys,ENST00000440156,;SLC4A7,missense_variant,p.Ser170Cys,ENST00000445684,;SLC4A7,missense_variant,p.Ser166Cys,ENST00000446700,;SLC4A7,missense_variant,p.Ser166Cys,ENST00000425128,;SLC4A7,missense_variant,p.Ser170Cys,ENST00000435667,;SLC4A7,missense_variant,p.Ser166Cys,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Ser166Cys,ENST00000437179,;SLC4A7,missense_variant,p.Ser161Cys,ENST00000428179,;SLC4A7,5_prime_UTR_variant,,ENST00000388777,;SLC4A7,missense_variant,p.Ser166Cys,ENST00000438530,;SLC4A7,missense_variant,p.Ser166Cys,ENST00000457377,;SLC4A7,missense_variant,p.Ser166Cys,ENST00000437266,;SLC4A7,non_coding_transcript_exon_variant,,ENST00000428005,;							MODERATE	481/3645	S161C	S4A7_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000295736		CCDS33721.1			1	
AMFR	0	LGGM	GRCh37	16	56438940	56438940	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	12	.	.	ENST00000290649.5:c.721C>T	p.Leu241Phe	p.L241F	ENST00000290649	NM_001144.5	241	Ctc/Ttc	0	1	1	UPI000013EDCA	0	NA	ENST00000290649		ENSG00000159461	463		46	2.56		HGNC	p.L146F		AMFR		SNV							ENST00000565445	protein_coding	getma.org/?cm=var&var=hg19,16,56438940,G,A&fts=all		hmmpanther:PTHR12477,hmmpanther:PTHR12477:SF70		L/F		A	medium	932/3600		getma.org/?cm=msa&ty=f&p=AMFR2_HUMAN&rb=201&re=338&var=L241F	deleterious(0)	Q6PGR1_HUMAN,Q1RN03_HUMAN,H3BSK3_HUMAN,H3BQM3_HUMAN			YES	AMFR,missense_variant,p.Leu241Phe,ENST00000290649,NM_001144.5;AMFR,missense_variant,p.Leu146Phe,ENST00000565445,;AMFR,missense_variant,p.Leu146Phe,ENST00000563664,;AMFR,upstream_gene_variant,,ENST00000492830,;AMFR,upstream_gene_variant,,ENST00000567738,;RP11-413H22.2,upstream_gene_variant,,ENST00000563090,;AMFR,downstream_gene_variant,,ENST00000568657,;AMFR,upstream_gene_variant,,ENST00000568762,;							MODERATE	721/1932	L241F	AMFR_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000290649		CCDS10758.1			1	
ATF7	0	LGGM	GRCh37	12	53994780	53994780	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	12	.	.	ENST00000420353.2:c.5G>A	p.Gly2Glu	p.G2E	ENST00000420353	NM_006856.2	2	gGa/gAa	0	1		UPI0000126230	0	getma.org/pdb.php?prot=ATF7_HUMAN&from=1&to=200&var=G2E	ENST00000548446		ENSG00000170653	792		51	1.12		HGNC	p.G2E		ATF7		SNV							ENST00000548446	protein_coding	getma.org/?cm=var&var=hg19,12,53994780,C,T&fts=all		PIRSF_domain:PIRSF003153,hmmpanther:PTHR19304		G/E		T	low	118/1892		getma.org/?cm=msa&ty=f&p=ATF7_HUMAN&rb=1&re=200&var=G2E	deleterious(0.03)	K7ESA4_HUMAN,K7EKZ7_HUMAN,F8VWG7_HUMAN				ATF7,missense_variant,p.Gly2Glu,ENST00000420353,NM_006856.2;ATF7,missense_variant,p.Gly2Glu,ENST00000415113,NM_001130060.1;ATF7,missense_variant,p.Gly2Glu,ENST00000328463,;ATF7,missense_variant,p.Gly2Glu,ENST00000456903,;ATF7,missense_variant,p.Gly2Glu,ENST00000548446,;RP11-793H13.10,missense_variant,p.Gly2Glu,ENST00000591834,;ATF7,missense_variant,p.Gly2Glu,ENST00000591397,NM_001206682.1;ATF7,missense_variant,p.Gly2Glu,ENST00000548118,NM_001206683.1;ATF7,missense_variant,p.Gly2Glu,ENST00000588078,;ATF7,5_prime_UTR_variant,,ENST00000588232,;ATF7,5_prime_UTR_variant,,ENST00000551480,;ATF7,non_coding_transcript_exon_variant,,ENST00000589726,;							MODERATE	5/1485	G2E	ATF7_HUMAN			Transcript		benign(0.129)	.	ENSP00000449938					1	
MUC4	0	LGGM	GRCh37	3	195480083	195480083	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	12	.	.	ENST00000463781.3:c.15347T>A	p.Leu5116Gln	p.L5116Q	ENST00000463781	NM_018406.6	5116	cTg/cAg	0	1	1	UPI0001B3CB30	0	NA	ENST00000463781		ENSG00000145113	7514		38	1.59		HGNC	p.L880Q		MUC4		SNV							ENST00000346145	protein_coding	getma.org/?cm=var&var=hg19,3,195480083,A,T&fts=all		hmmpanther:PTHR13802,hmmpanther:PTHR13802:SF41,SMART_domains:SM00181		L/Q		T	low	15807/17110		getma.org/?cm=msa&ty=f&p=MUC4_HUMAN&rb=1812&re=2011&var=L1873Q		O75456_HUMAN,E9PDY6_HUMAN			YES	MUC4,missense_variant,p.Leu5116Gln,ENST00000463781,NM_018406.6;MUC4,missense_variant,p.Leu5064Gln,ENST00000475231,;MUC4,missense_variant,p.Leu880Gln,ENST00000346145,NM_004532.5;MUC4,missense_variant,p.Leu829Gln,ENST00000349607,NM_138297.4;MUC4,missense_variant,p.Cys5063Ser,ENST00000478156,;MUC4,splice_region_variant,,ENST00000479406,;MUC4,3_prime_UTR_variant,,ENST00000466475,;MUC4,3_prime_UTR_variant,,ENST00000477756,;MUC4,3_prime_UTR_variant,,ENST00000477086,;MUC4,3_prime_UTR_variant,,ENST00000480843,;MUC4,3_prime_UTR_variant,,ENST00000462323,;MUC4,3_prime_UTR_variant,,ENST00000470451,;MUC4,3_prime_UTR_variant,,ENST00000448861,;MUC4,3_prime_UTR_variant,,ENST00000308466,;MUC4,3_prime_UTR_variant,,ENST00000339251,;MUC4,3_prime_UTR_variant,,ENST00000415455,;MUC4,3_prime_UTR_variant,,ENST00000392407,;MUC4,non_coding_transcript_exon_variant,,ENST00000464234,;MUC4,upstream_gene_variant,,ENST00000467235,;MUC4,upstream_gene_variant,,ENST00000469992,;							MODERATE	15347/16239	L1873Q				Transcript		benign(0.177)	.	ENSP00000417498		CCDS54700.1			1	
TTN	0	LGGM	GRCh37	2	179613850	179613850	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	12	.	.	ENST00000589042.1:c.11311+4001G>A		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		68	0.55		HGNC	p.R4426K		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179613850,C,T&fts=all						T	neutral	-/104301		getma.org/?cm=msa&ty=f&p=Q7Z3B7_HUMAN&rb=17&re=164&var=R85K		C9JQJ2_HUMAN				TTN,missense_variant,p.Arg4426Lys,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,;							MODIFIER	-/103053	R85K	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
EPG5	0	LGGM	GRCh37	18	43462251	43462251	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	12	.	.	ENST00000282041.5:c.5506C>T	p.Leu1836=	p.L1836=	ENST00000282041	NM_020964.2	1836	Ctg/Ttg	0	1	1	UPI00004F6F8A	0		ENST00000282041		ENSG00000152223	29331		46			HGNC	p.L1836L		EPG5		SNV			1				ENST00000282041	protein_coding			hmmpanther:PTHR31139,hmmpanther:PTHR31139:SF4		L		A		5541/12633				Q9BYJ3_HUMAN,Q9BTI0_HUMAN			YES	EPG5,synonymous_variant,p.=,ENST00000282041,NM_020964.2;EPG5,non_coding_transcript_exon_variant,,ENST00000585906,;EPG5,synonymous_variant,p.=,ENST00000592272,;EPG5,3_prime_UTR_variant,,ENST00000587884,;EPG5,3_prime_UTR_variant,,ENST00000590884,;							LOW	5506/7740		EPG5_HUMAN			Transcript			.	ENSP00000282041		CCDS11926.2			1	
STAG3	0	LGGM	GRCh37	7	99795433	99795433	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	12	.	.	ENST00000426455.1:c.1098C>T	p.Ala366=	p.A366=	ENST00000426455	NM_001282716.1	366	gcC/gcT	0	1		UPI000020F6E0	0		ENST00000317296		ENSG00000066923	11356		79			HGNC	p.A308A		STAG3		SNV							ENST00000394018	protein_coding			PROSITE_profiles:PS51425,hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF4,Superfamily_domains:SSF48371		A		T		1252/4198				D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN				STAG3,synonymous_variant,p.=,ENST00000426455,NM_001282716.1;STAG3,synonymous_variant,p.=,ENST00000317296,NM_012447.2,NM_001282717.1;STAG3,synonymous_variant,p.=,ENST00000394018,NM_001282718.1;GATS,downstream_gene_variant,,ENST00000436886,NM_178831.6;STAG3,non_coding_transcript_exon_variant,,ENST00000440830,;STAG3,non_coding_transcript_exon_variant,,ENST00000491498,;GATS,downstream_gene_variant,,ENST00000543273,;GATS,downstream_gene_variant,,ENST00000454084,;GATS,downstream_gene_variant,,ENST00000440058,;GATS,downstream_gene_variant,,ENST00000414997,;GATS,downstream_gene_variant,,ENST00000437485,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,non_coding_transcript_exon_variant,,ENST00000477469,;STAG3,upstream_gene_variant,,ENST00000479359,;STAG3,upstream_gene_variant,,ENST00000476057,;							LOW	1098/3678		STAG3_HUMAN			Transcript			.	ENSP00000319318		CCDS34703.1			1	
INTS12	0	LGGM	GRCh37	4	106604420	106604420	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	12	.	.	ENST00000451321.2:c.859A>G	p.Thr287Ala	p.T287A	ENST00000451321	NM_001142471.1	287	Act/Gct	0	1		UPI0000072C63	0	NA	ENST00000340139		ENSG00000138785	25067		61	0.205		HGNC	p.T287A		INTS12		SNV							ENST00000394735	protein_coding	getma.org/?cm=var&var=hg19,4,106604420,T,C&fts=all		hmmpanther:PTHR13415,Low_complexity_(Seg):seg		T/A		C	neutral	1074/1710		getma.org/?cm=msa&ty=f&p=INT12_HUMAN&rb=255&re=460&var=T287A	tolerated(0.62)	E9PGI3_HUMAN,C9JDP3_HUMAN,C9J0M6_HUMAN				INTS12,missense_variant,p.Thr287Ala,ENST00000451321,NM_001142471.1;INTS12,missense_variant,p.Thr287Ala,ENST00000394735,;INTS12,missense_variant,p.Thr287Ala,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,;							MODERATE	859/1389	T287A	INT12_HUMAN			Transcript		benign(0.003)	.	ENSP00000340737		CCDS3671.1			1	
TROAP	0	LGGM	GRCh37	12	49717798	49717798	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	12	.	.	ENST00000257909.3:c.315G>A	p.Gly105=	p.G105=	ENST00000257909	NM_005480.3	105	ggG/ggA	0	1	1	UPI000007108A	0		ENST00000257909		ENSG00000135451	12327		49			HGNC	p.G105G		TROAP		SNV							ENST00000380327	protein_coding			hmmpanther:PTHR15289,hmmpanther:PTHR15289:SF3		G		A		391/2527				F8W052_HUMAN			YES	TROAP,synonymous_variant,p.=,ENST00000551245,;TROAP,synonymous_variant,p.=,ENST00000257909,NM_005480.3;TROAP,synonymous_variant,p.=,ENST00000547807,;TROAP,synonymous_variant,p.=,ENST00000550709,;TROAP,synonymous_variant,p.=,ENST00000380327,NM_001100620.1;TROAP,synonymous_variant,p.=,ENST00000548311,NM_001278324.1;TROAP,synonymous_variant,p.=,ENST00000551567,;TROAP,3_prime_UTR_variant,,ENST00000549534,;TROAP,intron_variant,,ENST00000550346,;TROAP,intron_variant,,ENST00000549275,;TROAP,upstream_gene_variant,,ENST00000547923,;RP11-161H23.9,intron_variant,,ENST00000553259,;TROAP,synonymous_variant,p.=,ENST00000551192,;TROAP,intron_variant,,ENST00000546735,;TROAP,intron_variant,,ENST00000546776,;TROAP,intron_variant,,ENST00000549891,;TROAP,upstream_gene_variant,,ENST00000548817,;							LOW	315/2337		TROAP_HUMAN			Transcript			.	ENSP00000257909		CCDS8784.1			1	
XDH	0	LGGM	GRCh37	2	31570413	31570413	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	12	.	.	ENST00000379416.3:c.3251C>T	p.Ala1084Val	p.A1084V	ENST00000379416	NM_000379.3	1084	gCt/gTt	0	1	1	UPI0000036BC9	0	getma.org/pdb.php?prot=XDH_HUMAN&from=702&to=1237&var=A1084V	ENST00000379416		ENSG00000158125	12805		36	1.72		HGNC	p.A1084V		XDH		SNV			1				ENST00000379416	protein_coding	getma.org/?cm=var&var=hg19,2,31570413,G,A&fts=all		Superfamily_domains:SSF56003,PIRSF_domain:PIRSF000127,Pfam_domain:PF02738,Gene3D:3.30.365.10,hmmpanther:PTHR11908:SF32,hmmpanther:PTHR11908		A/V		A	low	3300/5688		getma.org/?cm=msa&ty=f&p=XDH_HUMAN&rb=702&re=1237&var=A1084V	deleterious(0)	Q585T6_HUMAN			YES	XDH,missense_variant,p.Ala1084Val,ENST00000379416,NM_000379.3;							MODERATE	3251/4002	A1084V	XDH_HUMAN			Transcript		benign(0.201)	.	ENSP00000368727		CCDS1775.1			1	
MS4A6A	0	LGGM	GRCh37	11	59945766	59945766	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	12	.	.	ENST00000412309.2:c.390A>T	p.Ser130=	p.S130=	ENST00000412309	NM_022349.3	130	tcA/tcT	0	1		UPI0000047616	0		ENST00000530839		ENSG00000110077	13375		43			HGNC	p.Q114L		MS4A6A		SNV							ENST00000527254	protein_coding			Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,Pfam_domain:PF04103,hmmpanther:PTHR23320:SF53,hmmpanther:PTHR23320		S		A		799/1383				E9PNG6_HUMAN				MS4A6A,synonymous_variant,p.=,ENST00000528851,;MS4A6A,synonymous_variant,p.=,ENST00000426738,;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.=,ENST00000420732,;MS4A6A,synonymous_variant,p.=,ENST00000533989,;MS4A6A,intron_variant,,ENST00000533023,;MS4A6A,downstream_gene_variant,,ENST00000532169,;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,missense_variant,p.Gln114Leu,ENST00000527254,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000531914,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000525549,;MS4A6A,non_coding_transcript_exon_variant,,ENST00000530179,;MS4A6A,downstream_gene_variant,,ENST00000526677,;MS4A6A,downstream_gene_variant,,ENST00000533660,;MS4A6A,downstream_gene_variant,,ENST00000526697,;							LOW	306/747		M4A6A_HUMAN			Transcript			.	ENSP00000436979		CCDS7981.1			1	
NTN4	0	LGGM	GRCh37	12	96131759	96131759	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	12	.	.	ENST00000343702.4:c.749A>G	p.His250Arg	p.H250R	ENST00000343702	NM_021229.3	250	cAc/cGc	0	1	1	UPI0000049824	0	getma.org/pdb.php?prot=NET4_HUMAN&from=34&to=260&var=H250R	ENST00000343702		ENSG00000074527	13658		33	1.655		HGNC	p.H213R		NTN4		SNV							ENST00000344911	protein_coding	getma.org/?cm=var&var=hg19,12,96131759,T,C&fts=all		Pfam_domain:PF00055,PROSITE_profiles:PS51117,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF260,SMART_domains:SM00136		H/R		C	low	1198/3615		getma.org/?cm=msa&ty=f&p=NET4_HUMAN&rb=34&re=260&var=H250R	tolerated(0.11)	F8W0I7_HUMAN			YES	NTN4,missense_variant,p.His250Arg,ENST00000343702,NM_021229.3;NTN4,missense_variant,p.His213Arg,ENST00000344911,;NTN4,missense_variant,p.His213Arg,ENST00000538383,;NTN4,missense_variant,p.His250Arg,ENST00000553059,;NTN4,downstream_gene_variant,,ENST00000547980,;NTN4,non_coding_transcript_exon_variant,,ENST00000552603,;							MODERATE	749/1887	H250R	NET4_HUMAN			Transcript		benign(0.236)	.	ENSP00000340998		CCDS9054.1			1	
PDP2	0	LGGM	GRCh37	16	66919300	66919300	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	12	.	.	ENST00000311765.2:c.1113G>A	p.Glu371=	p.E371=	ENST00000311765	NM_020786.2	371	gaG/gaA	0	1	1	UPI0000044254	0		ENST00000311765		ENSG00000172840	30263		56			HGNC	p.E371E		PDP2		SNV							ENST00000311765	protein_coding			Gene3D:3.60.40.10,Pfam_domain:PF00481,hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF255,SMART_domains:SM00332,Superfamily_domains:SSF81606		E		A		1447/4002				H3BV50_HUMAN,H3BTU5_HUMAN,H3BSA5_HUMAN,H3BRB7_HUMAN,H3BQX2_HUMAN			YES	PDP2,synonymous_variant,p.=,ENST00000311765,NM_020786.2;PDP2,downstream_gene_variant,,ENST00000566776,;PDP2,downstream_gene_variant,,ENST00000568869,;PDP2,downstream_gene_variant,,ENST00000561704,;PDP2,downstream_gene_variant,,ENST00000566543,;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,;							LOW	1113/1590		PDP2_HUMAN			Transcript			.	ENSP00000309548		CCDS10822.1			1	
ACTN1	0	LGGM	GRCh37	14	69350929	69350929	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	12	.	.	ENST00000394419.4:c.1591G>A	p.Asp531Asn	p.D531N	ENST00000394419	NM_001130004.1	531	Gac/Aac	0	1		UPI0000043C25	0	getma.org/pdb.php?prot=ACTN1_HUMAN&from=509&to=620&var=D531N	ENST00000193403		ENSG00000072110	163		33	2.635		HGNC	p.D531N		ACTN1		SNV			1				ENST00000193403	protein_coding	getma.org/?cm=var&var=hg19,14,69350929,C,T&fts=all		Gene3D:1.20.58.60,Pfam_domain:PF00435,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF241,SMART_domains:SM00150,Superfamily_domains:SSF46966		D/N		T	medium	1975/3779		getma.org/?cm=msa&ty=f&p=ACTN1_HUMAN&rb=509&re=620&var=D531N	deleterious(0.01)	Q5ZEZ4_HUMAN,G3V2X9_HUMAN,G3V2W4_HUMAN,G3V2E8_HUMAN				ACTN1,missense_variant,p.Asp531Asn,ENST00000193403,NM_001102.3;ACTN1,missense_variant,p.Asp531Asn,ENST00000394419,NM_001130004.1;ACTN1,missense_variant,p.Asp531Asn,ENST00000438964,NM_001130005.1;ACTN1,missense_variant,p.Asp466Asn,ENST00000376839,;ACTN1,missense_variant,p.Asp531Asn,ENST00000538545,;ACTN1,missense_variant,p.Asp121Asn,ENST00000544964,;ACTN1,missense_variant,p.Asp32Asn,ENST00000553290,;ACTN1,upstream_gene_variant,,ENST00000555075,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556343,;ACTN1,non_coding_transcript_exon_variant,,ENST00000556083,;ACTN1,upstream_gene_variant,,ENST00000556432,;HMGN1P3,downstream_gene_variant,,ENST00000555136,;							MODERATE	1591/2679	D531N	ACTN1_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000193403		CCDS9792.1			1	
RYR2	0	LGGM	GRCh37	1	237789033	237789033	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	106	12	.	.	ENST00000366574.2:c.6095T>A	p.Leu2032Gln	p.L2032Q	ENST00000366574	NM_001035.2	2032	cTg/cAg	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		118	2.925		HGNC	p.L2032Q		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237789033,T,A&fts=all		hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		L/Q		A	medium	6412/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=1962&re=2120&var=L2032Q		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Leu2032Gln,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Leu2016Gln,ENST00000542537,;RYR2,missense_variant,p.Leu2030Gln,ENST00000360064,;							MODERATE	6095/14904	L2032Q	RYR2_HUMAN			Transcript		possibly_damaging(0.535)	.	ENSP00000355533		CCDS55691.1			1	
DSEL	0	LGGM	GRCh37	18	65179091	65179091	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	12	.	.	ENST00000310045.7:c.2785C>T	p.Leu929Phe	p.L929F	ENST00000310045	NM_032160.2	929	Ctc/Ttc	0	1	1	UPI00000740A1	0	NA	ENST00000310045		ENSG00000171451	18144		60	1.61		HGNC	p.L929F		DSEL		SNV							ENST00000310045	protein_coding	getma.org/?cm=var&var=hg19,18,65179091,G,A&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2,Pfam_domain:PF00685		L/F		A	low	4259/9531		getma.org/?cm=msa&ty=f&p=DSEL_HUMAN&rb=852&re=1206&var=L919F	deleterious(0.02)				YES	DSEL,missense_variant,p.Leu929Phe,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,;							MODERATE	2785/3669	L919F	DSEL_HUMAN			Transcript		possibly_damaging(0.795)	.	ENSP00000310565		CCDS11995.1			1	
ABL2	0	LGGM	GRCh37	1	179079579	179079579	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	12	.	.	ENST00000502732.1:c.1663G>A	p.Glu555Lys	p.E555K	ENST00000502732	NM_001168237.1	555	Gag/Aag	0	1	1	UPI0000125140	0	NA	ENST00000502732		ENSG00000143322	77		60	1.83		HGNC	p.E540K		ABL2		SNV							ENST00000344730	protein_coding	getma.org/?cm=var&var=hg19,1,179079579,C,T&fts=all		hmmpanther:PTHR24418,hmmpanther:PTHR24418:SF87		E/K		T	low	1867/12144		getma.org/?cm=msa&ty=f&p=ABL2_HUMAN&rb=540&re=739&var=E555K	deleterious(0.01)				YES	ABL2,missense_variant,p.Glu555Lys,ENST00000502732,NM_001168237.1,NM_007314.3,NM_001168238.1,NM_001168236.1;ABL2,missense_variant,p.Glu519Lys,ENST00000408940,NM_001168239.1;ABL2,missense_variant,p.Glu540Lys,ENST00000344730,NM_001136000.2,NM_005158.4;ABL2,missense_variant,p.Glu540Lys,ENST00000512653,;ABL2,missense_variant,p.Glu534Lys,ENST00000367623,;ABL2,missense_variant,p.Glu555Lys,ENST00000511413,;ABL2,missense_variant,p.Glu534Lys,ENST00000507173,;ABL2,missense_variant,p.Glu519Lys,ENST00000504405,;ABL2,downstream_gene_variant,,ENST00000392043,NM_001136001.1;							MODERATE	1663/3549	E555K	ABL2_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000427562		CCDS30947.1			1	
ANKRD6	0	LGGM	GRCh37	6	90276735	90276735	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	12	.	.	ENST00000522441.1:c.40C>T	p.Leu14Phe	p.L14F	ENST00000522441	NM_001242811.1	14	Ctt/Ttt	0	1		UPI000020D325	0	getma.org/pdb.php?prot=ANKR6_HUMAN&from=14&to=105&var=L14F	ENST00000339746		ENSG00000135299	17280		49	2.785		HGNC	p.L14F		ANKRD6		SNV							ENST00000339746	protein_coding	getma.org/?cm=var&var=hg19,6,90276735,C,T&fts=all		Gene3D:1.25.40.20,Pfam_domain:PF12796,hmmpanther:PTHR24203,hmmpanther:PTHR24203:SF0,SMART_domains:SM00248,Superfamily_domains:SSF48403		L/F		T	medium	350/3073		getma.org/?cm=msa&ty=f&p=ANKR6_HUMAN&rb=14&re=105&var=L14F	deleterious(0)	E5RJR9_HUMAN,E5RJ45_HUMAN,E5RIS1_HUMAN,E5RIJ4_HUMAN				ANKRD6,missense_variant,p.Leu14Phe,ENST00000369408,NM_001242813.1;ANKRD6,missense_variant,p.Leu14Phe,ENST00000522441,NM_001242811.1;ANKRD6,missense_variant,p.Leu14Phe,ENST00000339746,NM_001242809.1;ANKRD6,missense_variant,p.Leu14Phe,ENST00000447838,NM_014942.4;ANKRD6,missense_variant,p.Leu14Phe,ENST00000520793,NM_001242814.1;ANKRD6,missense_variant,p.Leu14Phe,ENST00000485637,;ANKRD6,missense_variant,p.Leu14Phe,ENST00000465722,;ANKRD6,missense_variant,p.Leu14Phe,ENST00000518150,;ANKRD6,missense_variant,p.Leu14Phe,ENST00000522705,;ANKRD6,missense_variant,p.Leu14Phe,ENST00000522779,;ANKRD6,missense_variant,p.Leu14Phe,ENST00000523798,;ANKRD6,missense_variant,p.Leu14Phe,ENST00000520458,;RP11-16C18.3,non_coding_transcript_exon_variant,,ENST00000438267,;RP11-16C18.3,upstream_gene_variant,,ENST00000425588,;ANKRD6,intron_variant,,ENST00000520886,;LYRM2,downstream_gene_variant,,ENST00000520897,;							MODERATE	40/2184	L14F	ANKR6_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000345767		CCDS56441.1			1	
CDC42BPB	0	LGGM	GRCh37	14	103429456	103429456	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	12	.	.	ENST00000361246.2:c.2763A>G	p.Leu921=	p.L921=	ENST00000361246	NM_006035.3	921	ttA/ttG	0	1	1	UPI000013D27E	0		ENST00000361246		ENSG00000198752	1738		64			HGNC	p.L921L		CDC42BPB		SNV							ENST00000361246	protein_coding			Gene3D:1.20.5.340,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF08826,hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF30,Low_complexity_(Seg):seg		L		C		3052/6758							YES	CDC42BPB,synonymous_variant,p.=,ENST00000361246,NM_006035.3;CDC42BPB,synonymous_variant,p.=,ENST00000559043,;							LOW	2763/5136		MRCKB_HUMAN			Transcript			.	ENSP00000355237		CCDS9978.1			1	
STAG1	0	LGGM	GRCh37	3	136057256	136057256	+	synonymous_variant	Silent	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	12	.	.	ENST00000383202.2:c.3709A>C	p.Arg1237=	p.R1237=	ENST00000383202	NM_005862.2	1237	Agg/Cgg	0	1	1	UPI000020A2DE	0		ENST00000383202		ENSG00000118007	11354		63			HGNC	p.R1200R		STAG1		SNV							ENST00000236698	protein_coding			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6		R		G		3966/6053				Q4LE48_HUMAN			YES	STAG1,synonymous_variant,p.=,ENST00000383202,NM_005862.2;STAG1,synonymous_variant,p.=,ENST00000236698,;STAG1,synonymous_variant,p.=,ENST00000434713,;STAG1,synonymous_variant,p.=,ENST00000536929,;PCCB,downstream_gene_variant,,ENST00000471595,;PCCB,downstream_gene_variant,,ENST00000478469,;STAG1,3_prime_UTR_variant,,ENST00000483235,;							LOW	3709/3777		STAG1_HUMAN			Transcript			.	ENSP00000372689		CCDS3090.1			1	
MTUS2	0	LGGM	GRCh37	13	29600256	29600256	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	12	.	.	ENST00000431530.3:c.1451C>T	p.Pro484Leu	p.P484L	ENST00000431530	NM_001033602.2	484	cCt/cTt	0	1	1	UPI0000F734AC	0	NA	ENST00000431530		ENSG00000132938	20595		77	1.87		HGNC	p.P484L		MTUS2		SNV							ENST00000431530	protein_coding	getma.org/?cm=var&var=hg19,13,29600256,C,T&fts=all		hmmpanther:PTHR24200:SF8,hmmpanther:PTHR24200		P/L		T	low	1509/4747		getma.org/?cm=msa&ty=f&p=MTUS2_HUMAN&rb=1&re=1063&var=P474L	tolerated(0.45)	J3KQA9_HUMAN,B4DWQ4_HUMAN			YES	MTUS2,missense_variant,p.Pro484Leu,ENST00000431530,NM_001033602.2;							MODERATE	1451/4140	P474L				Transcript		possibly_damaging(0.463)	.	ENSP00000392057		CCDS45022.1			1	
ABLIM3	0	LGGM	GRCh37	5	148577866	148577866	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	12	.	.	ENST00000506113.1:c.236G>A	p.Gly79Asp	p.G79D	ENST00000506113		79	gGc/gAc	0	1		UPI0000071FF7	0	NA	ENST00000309868		ENSG00000173210	29132		54	2.735		HGNC	p.G79D		ABLIM3		SNV							ENST00000326685	protein_coding	getma.org/?cm=var&var=hg19,5,148577866,G,A&fts=all		PROSITE_profiles:PS50023,hmmpanther:PTHR24213,hmmpanther:PTHR24213:SF0,Gene3D:2.10.110.10,Superfamily_domains:SSF57716		G/D		A	medium	475/4326		getma.org/?cm=msa&ty=f&p=ABLM3_HUMAN&rb=21&re=80&var=G79D	deleterious(0)					ABLIM3,missense_variant,p.Gly79Asp,ENST00000506113,;ABLIM3,missense_variant,p.Gly79Asp,ENST00000309868,NM_014945.2;ABLIM3,missense_variant,p.Gly79Asp,ENST00000326685,;ABLIM3,missense_variant,p.Gly79Asp,ENST00000504238,;ABLIM3,missense_variant,p.Gly79Asp,ENST00000508983,;ABLIM3,missense_variant,p.Gly79Asp,ENST00000356541,;RP11-331K21.1,intron_variant,,ENST00000512647,;RP11-331K21.1,intron_variant,,ENST00000522685,;ABLIM3,missense_variant,p.Gly79Asp,ENST00000515171,;ABLIM3,non_coding_transcript_exon_variant,,ENST00000515796,;							MODERATE	236/2052	G79D	ABLM3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000310309		CCDS4294.1			1	
ZFYVE16	0	LGGM	GRCh37	5	79732766	79732766	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	12	.	.	ENST00000338008.5:c.262C>T	p.Leu88Phe	p.L88F	ENST00000338008	NM_014733.3	88	Ctt/Ttt	0	1	1	UPI000013F4A0	0	NA	ENST00000338008		ENSG00000039319	20756		54	1.935		HGNC	p.L88F		ZFYVE16		SNV							ENST00000338008	protein_coding	getma.org/?cm=var&var=hg19,5,79732766,C,T&fts=all		PIRSF_domain:PIRSF037289,hmmpanther:PTHR22835,hmmpanther:PTHR22835:SF43		L/F		T	medium	442/6773		getma.org/?cm=msa&ty=f&p=ZFY16_HUMAN&rb=1&re=158&var=L88F	tolerated(0.05)	B3KXA7_HUMAN			YES	ZFYVE16,missense_variant,p.Leu88Phe,ENST00000338008,NM_014733.3,NM_001284236.1;ZFYVE16,missense_variant,p.Leu88Phe,ENST00000510158,NM_001105251.1;ZFYVE16,missense_variant,p.Leu88Phe,ENST00000505560,;ZFYVE16,upstream_gene_variant,,ENST00000511050,;ZFYVE16,3_prime_UTR_variant,,ENST00000509562,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000512558,;ZFYVE16,non_coding_transcript_exon_variant,,ENST00000510995,;							MODERATE	262/4620	L88F	ZFY16_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000337159		CCDS4050.1			1	
CASC5	0	LGGM	GRCh37	15	40914001	40914001	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	12	.	.	ENST00000346991.5:c.1617A>T	p.Thr539=	p.T539=	ENST00000346991		539	acA/acT	0	1	1	UPI0000E59BD3	0		ENST00000346991		ENSG00000137812	24054		62			HGNC	p.T513T		CASC5		SNV			1				ENST00000399668	protein_coding			hmmpanther:PTHR16520,hmmpanther:PTHR16520:SF2		T		T		2007/9573							YES	CASC5,synonymous_variant,p.=,ENST00000346991,;CASC5,synonymous_variant,p.=,ENST00000399668,NM_144508.4,NM_170589.4;CASC5,3_prime_UTR_variant,,ENST00000527044,;CASC5,non_coding_transcript_exon_variant,,ENST00000533001,;CASC5,intron_variant,,ENST00000534204,;CASC5,upstream_gene_variant,,ENST00000526913,;							LOW	1617/7029		CASC5_HUMAN			Transcript			.	ENSP00000335463		CCDS42023.1			1	
PPARGC1B	0	LGGM	GRCh37	5	149212453	149212453	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	12	.	.	ENST00000309241.5:c.817G>A	p.Ala273Thr	p.A273T	ENST00000309241	NM_133263.3	273	Gca/Aca	0	1	1	UPI000006F49D	0	NA	ENST00000309241		ENSG00000155846	30022		38	1.7		HGNC	p.A234T		PPARGC1B		SNV							ENST00000360453	protein_coding	getma.org/?cm=var&var=hg19,5,149212453,G,A&fts=all		hmmpanther:PTHR15528:SF12,hmmpanther:PTHR15528		A/T		A	low	849/10568		getma.org/?cm=msa&ty=f&p=PRGC2_HUMAN&rb=5&re=297&var=A273T	tolerated(0.2)				YES	PPARGC1B,missense_variant,p.Ala273Thr,ENST00000309241,NM_133263.3;PPARGC1B,missense_variant,p.Ala273Thr,ENST00000394320,;PPARGC1B,missense_variant,p.Ala209Thr,ENST00000403750,NM_001172699.1;PPARGC1B,missense_variant,p.Ala234Thr,ENST00000360453,NM_001172698.1;PPARGC1B,upstream_gene_variant,,ENST00000434684,;							MODERATE	817/3072	A273T	PRGC2_HUMAN			Transcript		benign(0.069)	.	ENSP00000312649		CCDS4298.1			1	
PCDHB14	0	LGGM	GRCh37	5	140605332	140605332	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	12	.	.	ENST00000239449.4:c.2255A>G	p.Glu752Gly	p.E752G	ENST00000239449	NM_018934.2	752	gAg/gGg	0	1	1	UPI00001273E7	0	NA	ENST00000239449		ENSG00000120327	8685		66	3.76		HGNC	p.E599G		PCDHB14		SNV							ENST00000515856	protein_coding	getma.org/?cm=var&var=hg19,5,140605332,A,G&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF81		E/G		G	high	2255/2781		getma.org/?cm=msa&ty=f&p=PCDBE_HUMAN&rb=664&re=798&var=E752G	deleterious_low_confidence(0)	B4DPE2_HUMAN			YES	PCDHB14,missense_variant,p.Glu752Gly,ENST00000239449,NM_018934.2;PCDHB14,missense_variant,p.Glu599Gly,ENST00000515856,;							MODERATE	2255/2397	E752G	PCDBE_HUMAN			Transcript		probably_damaging(0.931)	.	ENSP00000239449		CCDS4256.1			1	
MKRN3	0	LGGM	GRCh37	15	23811264	23811264	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	12	.	.	ENST00000314520.3:c.335G>A	p.Gly112Glu	p.G112E	ENST00000314520	NM_005664.3	112	gGg/gAg	0	1	1	UPI000000DAA1	0	NA	ENST00000314520		ENSG00000179455	7114		36	1.89		HGNC	p.G112E		MKRN3		SNV			1				ENST00000314520	protein_coding	getma.org/?cm=var&var=hg19,15,23811264,G,A&fts=all		PROSITE_profiles:PS50103,hmmpanther:PTHR11224,hmmpanther:PTHR11224:SF38,Gene3D:1m9oA00,SMART_domains:SM00356,Superfamily_domains:SSF90229		G/E		A	low	811/2711		getma.org/?cm=msa&ty=f&p=MKRN3_HUMAN&rb=33&re=232&var=G112E	deleterious(0.02)				YES	MKRN3,missense_variant,p.Gly112Glu,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,;							MODERATE	335/1524	G112E	MKRN3_HUMAN			Transcript		possibly_damaging(0.549)	.	ENSP00000313881		CCDS10013.1			1	
TRBV3-1	0	LGGM	GRCh37	7	142008676	142008676	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	12	.	.	ENST00000390387.3:c.149C>T	p.Thr50Ile	p.T50I	ENST00000390387		50	aCt/aTt	0	1	1	UPI0000115AAE	0		ENST00000390387		ENSG00000237702	12212		77			HGNC	p.T50I		TRBV3-1		SNV							ENST00000390387	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23268:SF23,hmmpanther:PTHR23268,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		T/I		T		196/391			deleterious(0.01)	A0A576_HUMAN			YES	TRBV3-1,missense_variant,p.Thr50Ile,ENST00000390387,;TRBV4-1,upstream_gene_variant,,ENST00000390357,;							MODERATE	149/344					Transcript		benign(0.296)	.	ENSP00000374910					1	
UPB1	0	LGGM	GRCh37	22	24898183	24898183	+	splice_donor_variant	Splice_Site	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	13	.	.	ENST00000326010.5:c.364+2T>C		p.X122_splice	ENST00000326010	NM_016327.2			0	1	1	UPI0000126B4C	0		ENST00000326010		ENSG00000100024	16297		83			HGNC	-		UPB1		SNV			1				ENST00000413389	protein_coding							C		-/2290				A4QPH4_HUMAN			YES	UPB1,splice_donor_variant,,ENST00000413389,;UPB1,splice_donor_variant,,ENST00000326010,NM_016327.2;UPB1,splice_donor_variant,,ENST00000382760,;UPB1,splice_donor_variant,,ENST00000415388,;							HIGH	364/1155		BUP1_HUMAN			Transcript			.	ENSP00000324343		CCDS13827.1			1	
UPF2	0	LGGM	GRCh37	10	11978543	11978543	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	13	.	.	ENST00000356352.2:c.3546+1G>A		p.X1182_splice	ENST00000356352				0	1	1	UPI0000070D5E	0		ENST00000356352		ENSG00000151461	17854		62			HGNC	-		UPF2		SNV							ENST00000357604	protein_coding							T		-/5569				B4DHP3_HUMAN			YES	UPF2,splice_donor_variant,,ENST00000356352,;UPF2,splice_donor_variant,,ENST00000397053,NM_080599.2;UPF2,splice_donor_variant,,ENST00000357604,NM_015542.3;							HIGH	3546/3819		RENT2_HUMAN			Transcript			.	ENSP00000348708		CCDS7086.1			1	
PARM1	0	LGGM	GRCh37	4	75971371	75971371	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	13	.	.	ENST00000307428.7:c.849-2A>T		p.X283_splice	ENST00000307428	NM_015393.3			0	1	1	UPI000004457B	0		ENST00000307428		ENSG00000169116	24536		75			HGNC	-		PARM1		SNV							ENST00000513238	protein_coding							T		-/5011							YES	PARM1,splice_acceptor_variant,,ENST00000307428,NM_015393.3;PARM1,splice_acceptor_variant,,ENST00000513238,;							HIGH	849/933		PARM1_HUMAN			Transcript			.	ENSP00000370224		CCDS47077.1			1	
DNMT3B	0	LGGM	GRCh37	20	31375110	31375110	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	13	.	.	ENST00000328111.2:c.507C>T	p.Asp169=	p.D169=	ENST00000328111	NM_006892.3	169	gaC/gaT	0	1	1	UPI0000001046	0		ENST00000328111		ENSG00000088305	2979		46			HGNC	p.D93D		DNMT3B		SNV			1				ENST00000456297	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23068:SF9,hmmpanther:PTHR23068		D		T		828/4336							YES	DNMT3B,synonymous_variant,p.=,ENST00000328111,NM_006892.3;DNMT3B,synonymous_variant,p.=,ENST00000201963,NM_175850.2;DNMT3B,synonymous_variant,p.=,ENST00000353855,NM_175848.1;DNMT3B,synonymous_variant,p.=,ENST00000348286,NM_175849.1,NM_001207055.1;DNMT3B,synonymous_variant,p.=,ENST00000344505,;DNMT3B,synonymous_variant,p.=,ENST00000443239,;DNMT3B,synonymous_variant,p.=,ENST00000456297,NM_001207056.1;DNMT3B,synonymous_variant,p.=,ENST00000375623,;							LOW	507/2562		DNM3B_HUMAN			Transcript			.	ENSP00000328547		CCDS13205.1			1	
TTN	0	LGGM	GRCh37	2	179614700	179614700	+	intron_variant	Intron	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	13	.	.	ENST00000589042.1:c.11311+3151C>T		*3771*	ENST00000589042	NM_001267550.1			0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		63	0.695		HGNC	p.P4143S		TTN		SNV			1				ENST00000360870	protein_coding	getma.org/?cm=var&var=hg19,2,179614700,G,A&fts=all						A	neutral	-/104301		getma.org/?cm=msa&ty=f&p=E7EQE1_HUMAN&rb=4036&re=4159&var=P4145S		C9JQJ2_HUMAN				TTN,missense_variant,p.Pro4143Ser,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,;							MODIFIER	-/103053	P4145S	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
OR5K2	0	LGGM	GRCh37	3	98216789	98216789	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	113	13	.	.	ENST00000427338.1:c.265G>A	p.Gly89Ser	p.G89S	ENST00000427338	NM_001004737.1	89	Ggc/Agc	0	1	1	UPI000004B1DF	0	getma.org/pdb.php?prot=OR5K2_HUMAN&from=1&to=138&var=G89S	ENST00000427338		ENSG00000231861	14774		126	-0.76		HGNC	p.G89S		OR5K2		SNV							ENST00000427338	protein_coding	getma.org/?cm=var&var=hg19,3,98216789,G,A&fts=all		Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF38,Superfamily_domains:SSF81321		G/S		A	neutral	342/1049		getma.org/?cm=msa&ty=f&p=OR5K2_HUMAN&rb=1&re=138&var=G89S	tolerated(0.53)				YES	OR5K2,missense_variant,p.Gly89Ser,ENST00000427338,NM_001004737.1;CLDND1,3_prime_UTR_variant,,ENST00000502288,;CLDND1,downstream_gene_variant,,ENST00000507874,;							MODERATE	265/951	G89S	OR5K2_HUMAN			Transcript		benign(0.001)	.	ENSP00000393889		CCDS33804.1			1	
PPIL4	0	LGGM	GRCh37	6	149855889	149855889	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	13	.	.	ENST00000253329.2:c.486A>T	p.Leu162Phe	p.L162F	ENST00000253329	NM_139126.3	162	ttA/ttT	0	1	1	UPI0000037A9C	0	NA	ENST00000253329		ENSG00000131013	15702		50	3.195		HGNC	p.L162F		PPIL4		SNV							ENST00000253329	protein_coding	getma.org/?cm=var&var=hg19,6,149855889,T,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11071:SF156,hmmpanther:PTHR11071,Gene3D:2.40.100.10,Superfamily_domains:SSF50891		L/F		A	medium	519/2232		getma.org/?cm=msa&ty=f&p=PPIL4_HUMAN&rb=162&re=241&var=L162F	deleterious(0)	Q9P1R3_HUMAN,Q9H287_HUMAN,Q96AL2_HUMAN			YES	PPIL4,missense_variant,p.Leu162Phe,ENST00000253329,NM_139126.3;							MODERATE	486/1479	L162F	PPIL4_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000253329		CCDS34550.1			1	
ACCSL	0	LGGM	GRCh37	11	44069641	44069641	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	13	.	.	ENST00000378832.1:c.55G>A	p.Val19Ile	p.V19I	ENST00000378832	NM_001031854.2	19	Gtc/Atc	0	1	1	UPI000023785D	0	NA	ENST00000378832		ENSG00000205126	34391		42	1.39		HGNC	p.V19I		ACCSL		SNV							ENST00000527145	protein_coding	getma.org/?cm=var&var=hg19,11,44069641,G,A&fts=all				V/I		A	low	111/1820		getma.org/?cm=msa&ty=f&p=1A1L2_HUMAN&rb=1&re=168&var=V19I	tolerated(0.37)				YES	ACCSL,missense_variant,p.Val19Ile,ENST00000378832,NM_001031854.2;ACCSL,missense_variant,p.Val19Ile,ENST00000527145,;							MODERATE	55/1707	V19I	1A1L2_HUMAN			Transcript		benign(0.024)	.	ENSP00000368109		CCDS41636.1			1	
FAHD2A	0	LGGM	GRCh37	2	96078242	96078242	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	13	.	.	ENST00000233379.4:c.746C>T	p.Thr249Ile	p.T249I	ENST00000233379	NM_016044.2	249	aCc/aTc	0	1	1	UPI000006D4CC	0	getma.org/pdb.php?prot=FAH2A_HUMAN&from=107&to=314&var=T249I	ENST00000233379		ENSG00000115042	24252		58	2.71		HGNC	p.T249I		FAHD2A		SNV							ENST00000233379	protein_coding	getma.org/?cm=var&var=hg19,2,96078242,C,T&fts=all		Gene3D:3.90.850.10,Pfam_domain:PF01557,hmmpanther:PTHR11820,hmmpanther:PTHR11820:SF74,Superfamily_domains:SSF56529		T/I		T	medium	899/4757		getma.org/?cm=msa&ty=f&p=FAH2A_HUMAN&rb=107&re=314&var=T249I	deleterious(0)	C9JGM0_HUMAN,C9J5B6_HUMAN			YES	FAHD2A,missense_variant,p.Thr249Ile,ENST00000233379,NM_016044.2;FAHD2A,missense_variant,p.Thr249Ile,ENST00000447036,;FAHD2A,non_coding_transcript_exon_variant,,ENST00000470100,;FAHD2A,downstream_gene_variant,,ENST00000463940,;AC009238.6,downstream_gene_variant,,ENST00000512705,;							MODERATE	746/945	T249I	FAH2A_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000233379		CCDS2014.1			1	
DIS3	0	LGGM	GRCh37	13	73342943	73342943	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	13	.	.	ENST00000377767.4:c.1863G>A	p.Lys621=	p.K621=	ENST00000377767	NM_014953.3	621	aaG/aaA	0	1	1	UPI0000141B79	0		ENST00000377767		ENSG00000083520	20604		43			HGNC	p.K621K		DIS3		SNV							ENST00000377767	protein_coding			Superfamily_domains:SSF50249,SMART_domains:SM00955,Pfam_domain:PF00773,hmmpanther:PTHR23355,hmmpanther:PTHR23355:SF35		K		T		1964/7371				G3V1J5_HUMAN,B3KM83_HUMAN			YES	DIS3,synonymous_variant,p.=,ENST00000377767,NM_014953.3;DIS3,synonymous_variant,p.=,ENST00000377780,NM_001128226.1;DIS3,synonymous_variant,p.=,ENST00000545453,;DIS3,intron_variant,,ENST00000469339,;DIS3,3_prime_UTR_variant,,ENST00000490646,;							LOW	1863/2877		RRP44_HUMAN			Transcript			.	ENSP00000366997		CCDS9447.1			1	
ROBO1	0	LGGM	GRCh37	3	78676570	78676570	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	13	.	.	ENST00000464233.1:c.3776C>T	p.Ser1259Phe	p.S1259F	ENST00000464233	NM_002941.3	1259	tCc/tTc	0	1	1	UPI00000713D9	0	NA	ENST00000464233		ENSG00000169855	10249		38	2.25		HGNC	p.S1159F		ROBO1		SNV							ENST00000467549	protein_coding	getma.org/?cm=var&var=hg19,3,78676570,G,A&fts=all		hmmpanther:PTHR10489:SF107,hmmpanther:PTHR10489		S/F		A	medium	3890/6742		getma.org/?cm=msa&ty=f&p=ROBO1_HUMAN&rb=1065&re=1264&var=S1259F	deleterious(0)				YES	ROBO1,missense_variant,p.Ser1220Phe,ENST00000436010,;ROBO1,missense_variant,p.Ser1259Phe,ENST00000464233,NM_002941.3;ROBO1,missense_variant,p.Ser1214Phe,ENST00000495273,NM_001145845.1,NM_133631.3;ROBO1,missense_variant,p.Ser1159Phe,ENST00000467549,;ROBO1,missense_variant,p.Ser186Phe,ENST00000472273,;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,;							MODERATE	3776/4956	S1259F	ROBO1_HUMAN			Transcript		probably_damaging(0.982)	.	ENSP00000420321		CCDS54611.1			1	
ASH1L	0	LGGM	GRCh37	1	155385611	155385611	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	13	.	.	ENST00000392403.3:c.5932G>A	p.Glu1978Lys	p.E1978K	ENST00000392403	NM_018489.2	1978	Gaa/Aaa	0	1		UPI000013D5D2	0	NA	ENST00000368346		ENSG00000116539	19088		81	0.695		HGNC	p.E1978K		ASH1L		SNV							ENST00000392403	protein_coding	getma.org/?cm=var&var=hg19,1,155385611,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22884:SF311,hmmpanther:PTHR22884		E/K		T	neutral	6572/11942		getma.org/?cm=msa&ty=f&p=ASH1L_HUMAN&rb=1411&re=2018&var=E1978K	deleterious_low_confidence(0.01)					ASH1L,missense_variant,p.Glu1978Lys,ENST00000368346,;ASH1L,missense_variant,p.Glu1978Lys,ENST00000392403,NM_018489.2;snoU13,upstream_gene_variant,,ENST00000458873,;RNU6-1297P,upstream_gene_variant,,ENST00000384415,;							MODERATE	5932/8910	E1978K	ASH1L_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000357330					1	
OR4L1	0	LGGM	GRCh37	14	20528679	20528679	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	80	13	.	.	ENST00000315683.1:c.476A>T	p.Gln159Leu	p.Q159L	ENST00000315683	NM_001004717.1	159	cAg/cTg	0	1	1	UPI0000041CE3	0	NA	ENST00000315683		ENSG00000176246	15356		93	1.51		HGNC	p.Q159L		OR4L1		SNV							ENST00000315683	protein_coding	getma.org/?cm=var&var=hg19,14,20528679,A,T&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF221,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		Q/L		T	low	476/939		getma.org/?cm=msa&ty=f&p=OR4L1_HUMAN&rb=139&re=280&var=Q159L	deleterious(0)				YES	OR4L1,missense_variant,p.Gln159Leu,ENST00000315683,NM_001004717.1;							MODERATE	476/939	Q159L	OR4L1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000319217		CCDS32029.1			1	
FBN2	0	LGGM	GRCh37	5	127623028	127623028	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	13	.	.	ENST00000508053.1:c.6852C>T	p.Ala2284=	p.A2284=	ENST00000508053		2284	gcC/gcT	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		72			HGNC	p.A2284A		FBN2		SNV			1				ENST00000508053	protein_coding			Gene3D:2.10.25.10,Pfam_domain:PF07645,PIRSF_domain:PIRSF036312,PROSITE_patterns:PS01186,PROSITE_profiles:PS50026,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184,Superfamily_domains:SSF57184		A		A		7291/10724								FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;							LOW	6852/8739		FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
NUMA1	0	LGGM	GRCh37	11	71727506	71727506	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	13	.	.	ENST00000393695.3:c.1190T>A	p.Leu397Gln	p.L397Q	ENST00000393695	NM_006185.2	397	cTg/cAg	0	1	1	UPI000013DB8B	0	NA	ENST00000393695		ENSG00000137497	8059		54	1.67		HGNC	p.L397Q		NUMA1		SNV			1				ENST00000358965	protein_coding	getma.org/?cm=var&var=hg19,11,71727506,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF24,Low_complexity_(Seg):seg		L/Q		T	low	1522/7343		getma.org/?cm=msa&ty=f&p=NUMA1_HUMAN&rb=281&re=1329&var=L397Q		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			YES	NUMA1,missense_variant,p.Leu397Gln,ENST00000393695,NM_006185.2;NUMA1,missense_variant,p.Leu397Gln,ENST00000358965,NM_001286561.1;NUMA1,missense_variant,p.Leu397Gln,ENST00000351960,;NUMA1,missense_variant,p.Leu397Gln,ENST00000542977,;NUMA1,missense_variant,p.Leu397Gln,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,,ENST00000544129,;NUMA1,downstream_gene_variant,,ENST00000537930,;NUMA1,downstream_gene_variant,,ENST00000535947,;RP11-849H4.4,non_coding_transcript_exon_variant,,ENST00000502284,;NUMA1,downstream_gene_variant,,ENST00000534987,;NUMA1,downstream_gene_variant,,ENST00000540843,;NUMA1,downstream_gene_variant,,ENST00000536119,;NUMA1,upstream_gene_variant,,ENST00000545721,;NUMA1,upstream_gene_variant,,ENST00000540588,;							MODERATE	1190/6348	L397Q	NUMA1_HUMAN			Transcript		benign(0.031)	.	ENSP00000377298		CCDS31633.1			1	
DNAH5	0	LGGM	GRCh37	5	13865785	13865785	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	13	.	.	ENST00000265104.4:c.4347C>T	p.Phe1449=	p.F1449=	ENST00000265104	NM_001369.2	1449	ttC/ttT	0	1	1	UPI0000110101	0		ENST00000265104		ENSG00000039139	2950		45			HGNC	p.F1449F		DNAH5		SNV			1				ENST00000265104	protein_coding			Pfam_domain:PF08393,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		F		A		4452/15633				O95496_HUMAN			YES	DNAH5,synonymous_variant,p.=,ENST00000265104,NM_001369.2;CTB-51A17.1,intron_variant,,ENST00000503244,;							LOW	4347/13875		DYH5_HUMAN			Transcript			.	ENSP00000265104		CCDS3882.1			1	
UHRF2	0	LGGM	GRCh37	9	6460619	6460619	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	13	.	.	ENST00000276893.5:c.691C>T	p.Pro231Ser	p.P231S	ENST00000276893	NM_152896.2	231	Cca/Tca	0	1	1	UPI000006E524	0	getma.org/pdb.php?prot=UHRF2_HUMAN&from=177&to=261&var=P231S	ENST00000276893		ENSG00000147854	12557		78	1.555		HGNC	p.P8S		UHRF2		SNV							ENST00000450508	protein_coding	getma.org/?cm=var&var=hg19,9,6460619,C,T&fts=all		hmmpanther:PTHR14140,hmmpanther:PTHR14140:SF3,Pfam_domain:PF12148		P/S		T	low	859/3452		getma.org/?cm=msa&ty=f&p=UHRF2_HUMAN&rb=177&re=261&var=P231S	deleterious(0.02)				YES	UHRF2,missense_variant,p.Pro231Ser,ENST00000276893,NM_152896.2;UHRF2,missense_variant,p.Pro8Ser,ENST00000450508,;UHRF2,downstream_gene_variant,,ENST00000481049,;UHRF2,missense_variant,p.Pro231Ser,ENST00000468435,;UHRF2,non_coding_transcript_exon_variant,,ENST00000484159,;							MODERATE	691/2409	P231S	UHRF2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000276893		CCDS6469.1			1	
ZNF488	0	LGGM	GRCh37	10	48371019	48371019	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	17	13	.	.	ENST00000395702.2:c.487T>A	p.Phe163Ile	p.F163I	ENST00000395702		163	Ttt/Att	0	1	1	UPI00000736CF	0	NA	ENST00000395702		ENSG00000165388	23535		30	1.955		HGNC	p.F56I		ZNF488		SNV							ENST00000586537	protein_coding	getma.org/?cm=var&var=hg19,10,48371019,T,A&fts=all		hmmpanther:PTHR16516,hmmpanther:PTHR16516:SF1		F/I		A	medium	714/3561		getma.org/?cm=msa&ty=f&p=ZN488_HUMAN&rb=1&re=200&var=F163I	deleterious(0)	Q05CE0_HUMAN,A2AH66_HUMAN,A2AH65_HUMAN,A2AH64_HUMAN,A2AH63_HUMAN,A2AH62_HUMAN,A2AH61_HUMAN			YES	ZNF488,missense_variant,p.Phe163Ile,ENST00000395702,;ZNF488,missense_variant,p.Phe56Ile,ENST00000586537,;ZNF488,3_prime_UTR_variant,,ENST00000494156,NM_153034.2;ZNF488,downstream_gene_variant,,ENST00000425196,;ZNF488,downstream_gene_variant,,ENST00000444585,;ZNF488,downstream_gene_variant,,ENST00000412534,;ZNF488,downstream_gene_variant,,ENST00000433077,;ZNF488,downstream_gene_variant,,ENST00000436850,;ZNF488,downstream_gene_variant,,ENST00000442001,;							MODERATE	487/1023	F163I	ZN488_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000379054		CCDS7217.1			1	
RNF169	0	LGGM	GRCh37	11	74547360	74547360	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	13	.	.	ENST00000299563.4:c.1712C>T	p.Thr571Ile	p.T571I	ENST00000299563	NM_001098638.1	571	aCc/aTc	0	1	1	UPI00001C1F15	0	NA	ENST00000299563		ENSG00000166439	26961		51	0.69		HGNC	p.T571I		RNF169		SNV							ENST00000299563	protein_coding	getma.org/?cm=var&var=hg19,11,74547360,C,T&fts=all		hmmpanther:PTHR23328,hmmpanther:PTHR23328:SF2		T/I		T	neutral	1725/7823		getma.org/?cm=msa&ty=f&p=RN169_HUMAN&rb=119&re=706&var=T571I	tolerated(0.54)				YES	RNF169,missense_variant,p.Thr571Ile,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,;XRRA1,downstream_gene_variant,,ENST00000531849,;							MODERATE	1712/2127	T571I	RN169_HUMAN			Transcript		benign(0.035)	.	ENSP00000299563		CCDS41691.1			1	
HSPD1	0	LGGM	GRCh37	2	198363470	198363470	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	69	13	.	.	ENST00000388968.3:c.103G>A	p.Asp35Asn	p.D35N	ENST00000388968	NM_002156.4	35	Gat/Aat	0	1		UPI0000042366	0	NA	ENST00000345042		ENSG00000144381	5261		82	2.28		HGNC	p.D35N		HSPD1		SNV			1				ENST00000388968	protein_coding	getma.org/?cm=var&var=hg19,2,198363470,C,T&fts=all		Superfamily_domains:SSF48592,Gene3D:1.10.560.10,TIGRFAM_domain:TIGR02348,hmmpanther:PTHR11353,HAMAP:MF_00600		D/N		T	medium	220/2299		getma.org/?cm=msa&ty=f&p=CH60_HUMAN&rb=1&re=46&var=D35N	tolerated(0.09)	Q53SE2_HUMAN,Q53QD5_HUMAN,E7EXB4_HUMAN,C9JL19_HUMAN,C9JCQ4_HUMAN,C9J0S9_HUMAN				HSPD1,missense_variant,p.Asp35Asn,ENST00000388968,NM_002156.4;HSPD1,missense_variant,p.Asp35Asn,ENST00000345042,NM_199440.1;HSPD1,missense_variant,p.Asp35Asn,ENST00000452200,;HSPD1,missense_variant,p.Asp35Asn,ENST00000430176,;HSPD1,missense_variant,p.Asp35Asn,ENST00000544407,;HSPD1,missense_variant,p.Asp35Asn,ENST00000439605,;HSPD1,missense_variant,p.Asp35Asn,ENST00000428204,;HSPD1,missense_variant,p.Asp35Asn,ENST00000418022,;HSPD1,missense_variant,p.Asp77Asn,ENST00000426480,;HSPE1,upstream_gene_variant,,ENST00000233893,NM_002157.2;HSPE1-MOB4,upstream_gene_variant,,ENST00000604458,NM_001202485.1;HSPE1,upstream_gene_variant,,ENST00000409468,;HSPE1,upstream_gene_variant,,ENST00000409729,;HSPE1,upstream_gene_variant,,ENST00000465573,;HSPD1,missense_variant,p.Asp35Asn,ENST00000440114,;HSPD1,non_coding_transcript_exon_variant,,ENST00000476746,;HSPD1,non_coding_transcript_exon_variant,,ENST00000461097,;HSPE1,upstream_gene_variant,,ENST00000463841,;HSPD1,upstream_gene_variant,,ENST00000486181,;HSPE1,upstream_gene_variant,,ENST00000473395,;HSPE1,upstream_gene_variant,,ENST00000495200,;HSPD1,upstream_gene_variant,,ENST00000482167,;							MODERATE	103/1722	D35N	CH60_HUMAN			Transcript		benign(0.002)	.	ENSP00000340019		CCDS33357.1			1	
EFHC1	0	LGGM	GRCh37	6	52303304	52303304	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	13	.	.	ENST00000371068.5:c.488A>T	p.Tyr163Phe	p.Y163F	ENST00000371068	NM_018100.3	163	tAc/tTc	0	1	1	UPI0000141099	0	getma.org/pdb.php?prot=EFHC1_HUMAN&from=93&to=198&var=Y163F	ENST00000371068		ENSG00000096093	16406		46	1.74		HGNC	p.Y163F		EFHC1		SNV			1				ENST00000371068	protein_coding	getma.org/?cm=var&var=hg19,6,52303304,A,T&fts=all		PROSITE_profiles:PS51336,hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF9,SMART_domains:SM00676		Y/F		T	low	591/5470		getma.org/?cm=msa&ty=f&p=EFHC1_HUMAN&rb=93&re=198&var=Y163F	deleterious(0)	B2CKC5_HUMAN			YES	EFHC1,missense_variant,p.Tyr163Phe,ENST00000371068,NM_018100.3;EFHC1,missense_variant,p.Tyr144Phe,ENST00000538167,NM_001172420.1;EFHC1,missense_variant,p.Tyr72Phe,ENST00000433625,;EFHC1,non_coding_transcript_exon_variant,,ENST00000491749,;EFHC1,missense_variant,p.Tyr163Phe,ENST00000480623,;							MODERATE	488/1923	Y163F	EFHC1_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000360107		CCDS4942.1			1	
HYAL4	0	LGGM	GRCh37	7	123509247	123509247	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	31	13	.	.	ENST00000223026.4:c.920G>A	p.Gly307Glu	p.G307E	ENST00000223026	NM_012269.2	307	gGg/gAg	0	1	1	UPI000006F62B	0	getma.org/pdb.php?prot=HYAL4_HUMAN&from=37&to=374&var=G307E	ENST00000223026		ENSG00000106302	5323		44	1.04		HGNC	p.G307E		HYAL4		SNV							ENST00000483878	protein_coding	getma.org/?cm=var&var=hg19,7,123509247,G,A&fts=all		Gene3D:3.20.20.70,Pfam_domain:PF01630,PIRSF_domain:PIRSF038193,hmmpanther:PTHR11769,hmmpanther:PTHR11769:SF7,Superfamily_domains:SSF51445		G/E		A	low	1558/2407		getma.org/?cm=msa&ty=f&p=HYAL4_HUMAN&rb=37&re=374&var=G307E	tolerated(0.1)	C9JU18_HUMAN,C9J6F9_HUMAN			YES	HYAL4,missense_variant,p.Gly307Glu,ENST00000223026,NM_012269.2;HYAL4,missense_variant,p.Gly307Glu,ENST00000476325,;HYAL4,downstream_gene_variant,,ENST00000489978,;HYAL4,downstream_gene_variant,,ENST00000488323,;HYAL4,missense_variant,p.Gly307Glu,ENST00000483878,;							MODERATE	920/1446	G307E	HYAL4_HUMAN			Transcript		possibly_damaging(0.886)	.	ENSP00000223026		CCDS5789.1			1	
GPATCH3	0	LGGM	GRCh37	1	27223884	27223884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	13	.	.	ENST00000361720.5:c.784G>A	p.Gly262Arg	p.G262R	ENST00000361720	NM_022078.2	262	Gga/Aga	0	1	1	UPI000003E830	0	NA	ENST00000361720		ENSG00000198746	25720		65	1.43		HGNC	p.G262R		GPATCH3		SNV							ENST00000361720	protein_coding	getma.org/?cm=var&var=hg19,1,27223884,C,T&fts=all		hmmpanther:PTHR14390		G/R		T	low	808/2123		getma.org/?cm=msa&ty=f&p=GPTC3_HUMAN&rb=201&re=400&var=G262R	tolerated(0.1)	Q5JYG5_HUMAN,B4E015_HUMAN			YES	GPATCH3,missense_variant,p.Gly262Arg,ENST00000361720,NM_022078.2;NUDC,upstream_gene_variant,,ENST00000435827,;GPATCH3,upstream_gene_variant,,ENST00000445019,;GPATCH3,upstream_gene_variant,,ENST00000450844,;							MODERATE	784/1578	G262R	GPTC3_HUMAN			Transcript		benign(0.288)	.	ENSP00000354645		CCDS290.1			1	
INTS6	0	LGGM	GRCh37	13	51948492	51948492	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	13	.	.	ENST00000311234.4:c.1956G>A	p.Gly652=	p.G652=	ENST00000311234	NM_012141.2	652	ggG/ggA	0	1	1	UPI0000030C84	0		ENST00000311234		ENSG00000102786	14879		69			HGNC	p.G639G	COSM161753	INTS6		SNV						1	ENST00000398119	protein_coding			hmmpanther:PTHR12957:SF23,hmmpanther:PTHR12957		G		T		2429/3662				G5E9X1_HUMAN,C9K0V7_HUMAN,C9JVX2_HUMAN,C9J885_HUMAN,C9J0C6_HUMAN,B3KQH5_HUMAN			YES	INTS6,synonymous_variant,p.=,ENST00000311234,NM_012141.2;INTS6,synonymous_variant,p.=,ENST00000398119,NM_001039937.1;INTS6,synonymous_variant,p.=,ENST00000425000,;INTS6,synonymous_variant,p.=,ENST00000497989,;INTS6,synonymous_variant,p.=,ENST00000490542,;INTS6,intron_variant,,ENST00000463928,;INTS6,3_prime_UTR_variant,,ENST00000469430,;INTS6,non_coding_transcript_exon_variant,,ENST00000483441,;					1		LOW	1956/2664		INT6_HUMAN			Transcript			.	ENSP00000310260		CCDS9428.1			1	
ZNF548	0	LGGM	GRCh37	19	57909824	57909824	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	104	13	.	.	ENST00000336128.7:c.205G>A	p.Glu69Lys	p.E69K	ENST00000336128	NM_001172773.1	69	Gag/Aag	0	1		UPI0000202D1F	0	getma.org/pdb.php?prot=ZN548_HUMAN&from=8&to=79&var=E57K	ENST00000366197		ENSG00000188785	26561		117	0.7		HGNC	p.E60K		ZNF548		SNV							ENST00000600927	protein_coding	getma.org/?cm=var&var=hg19,19,57909824,G,A&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF189,SMART_domains:SM00349,Superfamily_domains:0044637		E/K		A	neutral	419/3381		getma.org/?cm=msa&ty=f&p=ZN548_HUMAN&rb=8&re=79&var=E57K	tolerated(0.05)					ZNF548,missense_variant,p.Glu57Lys,ENST00000366197,NM_152909.3;ZNF548,missense_variant,p.Glu69Lys,ENST00000336128,NM_001172773.1;ZNF548,missense_variant,p.Glu60Lys,ENST00000600927,;AC003002.4,missense_variant,p.Glu60Lys,ENST00000597658,;ZNF548,3_prime_UTR_variant,,ENST00000597400,;AC003002.6,intron_variant,,ENST00000596400,;AC003002.6,intron_variant,,ENST00000596617,;AC004076.7,intron_variant,,ENST00000597410,;ZNF548,downstream_gene_variant,,ENST00000598895,;ZNF548,downstream_gene_variant,,ENST00000596282,;ZNF548,downstream_gene_variant,,ENST00000594668,;ZNF548,downstream_gene_variant,,ENST00000594693,;AC003002.6,intron_variant,,ENST00000600421,;ZNF548,3_prime_UTR_variant,,ENST00000597047,;ZNF548,3_prime_UTR_variant,,ENST00000602086,;ZNF548,non_coding_transcript_exon_variant,,ENST00000597576,;ZNF548,downstream_gene_variant,,ENST00000600442,;							MODERATE	169/1602	E57K	ZN548_HUMAN			Transcript		benign(0.001)	.	ENSP00000379482		CCDS46209.1			1	
PEX5L	0	LGGM	GRCh37	3	179605474	179605474	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	13	.	.	ENST00000467460.1:c.297A>T	p.Thr99=	p.T99=	ENST00000467460	NM_001256751.1	99	acA/acT	0	1	1	UPI0000049CE2	0		ENST00000467460		ENSG00000114757	30024		86			HGNC	p.T99T		PEX5L		SNV							ENST00000467460	protein_coding			hmmpanther:PTHR10130:SF1,hmmpanther:PTHR10130		T		A		628/9082				C9JZE2_HUMAN,C9IZ09_HUMAN			YES	PEX5L,synonymous_variant,p.=,ENST00000467460,NM_001256751.1,NM_016559.2;PEX5L,synonymous_variant,p.=,ENST00000485199,NM_001256752.1;PEX5L,synonymous_variant,p.=,ENST00000263962,NM_001256750.1;PEX5L,synonymous_variant,p.=,ENST00000476138,NM_001256754.1;PEX5L,synonymous_variant,p.=,ENST00000392649,;PEX5L,synonymous_variant,p.=,ENST00000472994,NM_001256753.1;PEX5L,synonymous_variant,p.=,ENST00000465751,;PEX5L,synonymous_variant,p.=,ENST00000464614,NM_001256755.1;PEX5L,synonymous_variant,p.=,ENST00000463761,;PEX5L,synonymous_variant,p.=,ENST00000469198,;PEX5L,5_prime_UTR_variant,,ENST00000468741,NM_001256756.1;PEX5L,5_prime_UTR_variant,,ENST00000491640,;PEX5L,5_prime_UTR_variant,,ENST00000496721,;PEX5L,non_coding_transcript_exon_variant,,ENST00000467440,;PEX5L,non_coding_transcript_exon_variant,,ENST00000487198,;							LOW	297/1881		PEX5R_HUMAN			Transcript			.	ENSP00000419975		CCDS3236.1			1	
UBN2	0	LGGM	GRCh37	7	138967969	138967969	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	13	.	.	ENST00000473989.3:c.2318C>T	p.Ala773Val	p.A773V	ENST00000473989	NM_173569.3	773	gCt/gTt	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		72	2.075		HGNC	p.A773V		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138967969,C,T&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		A/V		T	medium	2318/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=665&re=790&var=A773V	deleterious(0)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Ala773Val,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Ala690Val,ENST00000288561,;							MODERATE	2318/4044	A773V	UBN2_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000418648		CCDS43655.2			1	
C16orf96	0	LGGM	GRCh37	16	4621647	4621647	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	13	.	.	ENST00000444310.4:c.506T>G	p.Leu169Arg	p.L169R	ENST00000444310	NM_001145011.1	169	cTg/cGg	0	1	1	UPI0001929538	0	NA	ENST00000444310		ENSG00000205832	40031		59	1.7		HGNC	p.L169R		C16orf96		SNV							ENST00000444310	protein_coding	getma.org/?cm=var&var=hg19,16,4621647,T,G&fts=all		Coiled-coils_(Ncoils):Coil		L/R		G	low	506/3823		getma.org/?cm=msa&ty=f&p=CP096_HUMAN&rb=1&re=200&var=L169R	deleterious(0)				YES	C16orf96,missense_variant,p.Leu169Arg,ENST00000444310,NM_001145011.1;							MODERATE	506/3426	L169R	CP096_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000415027		CCDS53986.1			1	
TCTEX1D1	0	LGGM	GRCh37	1	67242027	67242027	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	24	13	.	.	ENST00000282670.2:c.277C>T	p.Leu93=	p.L93=	ENST00000282670	NM_152665.2	93	Cta/Tta	0	1	1	UPI000013DCF4	0		ENST00000282670		ENSG00000152760	26882		37			HGNC	p.L93L		TCTEX1D1		SNV							ENST00000282670	protein_coding			hmmpanther:PTHR21255,hmmpanther:PTHR21255:SF2,Pfam_domain:PF03645		L		T		405/2001							YES	TCTEX1D1,synonymous_variant,p.=,ENST00000282670,NM_152665.2;TCTEX1D1,downstream_gene_variant,,ENST00000448074,;TCTEX1D1,3_prime_UTR_variant,,ENST00000528352,;TCTEX1D1,non_coding_transcript_exon_variant,,ENST00000489510,;							LOW	277/540		TC1D1_HUMAN			Transcript			.	ENSP00000282670		CCDS633.1			1	
GIMAP8	0	LGGM	GRCh37	7	150174482	150174482	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	13	.	.	ENST00000307271.3:c.1612A>T	p.Thr538Ser	p.T538S	ENST00000307271	NM_175571.2	538	Act/Tct	0	1	1	UPI0000168646	0	getma.org/pdb.php?prot=GIMA8_HUMAN&from=439&to=655&var=T538S	ENST00000307271		ENSG00000171115	21792		51	2.055		HGNC	p.T538S		GIMAP8		SNV							ENST00000307271	protein_coding	getma.org/?cm=var&var=hg19,7,150174482,A,T&fts=all		Superfamily_domains:SSF52540,Gene3D:3.40.50.300,Pfam_domain:PF04548,hmmpanther:PTHR10903,hmmpanther:PTHR10903:SF45,PROSITE_profiles:PS51720		T/S		T	medium	2186/4184		getma.org/?cm=msa&ty=f&p=GIMA8_HUMAN&rb=439&re=655&var=T538S	deleterious(0)				YES	GIMAP8,missense_variant,p.Thr538Ser,ENST00000307271,NM_175571.2;							MODERATE	1612/1998	T538S	GIMA8_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000305107		CCDS34777.1			1	
ACAP2	0	LGGM	GRCh37	3	195022343	195022343	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	13	.	.	ENST00000326793.6:c.1356A>T	p.Arg452=	p.R452=	ENST00000326793	NM_012287.5	452	cgA/cgT	0	1	1	UPI0000141A1A	0		ENST00000326793		ENSG00000114331	16469		48			HGNC	p.R452R		ACAP2		SNV							ENST00000326793	protein_coding			Pfam_domain:PF01412,Prints_domain:PR00405,PROSITE_profiles:PS50115,hmmpanther:PTHR23180,hmmpanther:PTHR23180:SF241,SMART_domains:SM00105,Superfamily_domains:SSF57863		R		A		1587/7160				C9J8L1_HUMAN			YES	ACAP2,synonymous_variant,p.=,ENST00000326793,NM_012287.5;ACAP2,synonymous_variant,p.=,ENST00000450200,;ACAP2,downstream_gene_variant,,ENST00000439758,;ACAP2,non_coding_transcript_exon_variant,,ENST00000475905,;ACAP2,non_coding_transcript_exon_variant,,ENST00000484296,;							LOW	1356/2337		ACAP2_HUMAN			Transcript			.	ENSP00000324287		CCDS33924.1			1	
PMS2	0	LGGM	GRCh37	7	6027019	6027019	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	13	.	.	ENST00000265849.7:c.1377A>G	p.Ser459=	p.S459=	ENST00000265849	NM_000535.5	459	tcA/tcG	0	1	1	UPI000013D696	0		ENST00000265849		ENSG00000122512	9122		49			HGNC	p.S459S		PMS2		SNV			1				ENST00000265849	protein_coding			hmmpanther:PTHR10073,hmmpanther:PTHR10073:SF9		S		C		1483/2855							YES	PMS2,synonymous_variant,p.=,ENST00000265849,NM_000535.5;PMS2,synonymous_variant,p.=,ENST00000441476,;PMS2,synonymous_variant,p.=,ENST00000406569,;PMS2,intron_variant,,ENST00000382321,;PMS2,intron_variant,,ENST00000469652,;							LOW	1377/2589		PMS2_HUMAN			Transcript			.	ENSP00000265849		CCDS5343.1			1	
CHD3	0	LGGM	GRCh37	17	7811231	7811231	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	12	13	.	.	ENST00000380358.4:c.5223G>A	p.Arg1741=	p.R1741=	ENST00000380358	NM_001005271.2	1741	cgG/cgA	0	1		UPI00001AED64	0		ENST00000330494		ENSG00000170004	1918		25			HGNC	p.R1741R		CHD3		SNV							ENST00000380358	protein_coding			hmmpanther:PTHR10799:SF544,hmmpanther:PTHR10799		R		A		5196/7328				Q2TAZ1_HUMAN				CHD3,synonymous_variant,p.=,ENST00000380358,NM_001005271.2;CHD3,synonymous_variant,p.=,ENST00000330494,NM_001005273.2;CHD3,synonymous_variant,p.=,ENST00000358181,NM_005852.3;CHD3,synonymous_variant,p.=,ENST00000439235,;CHD3,synonymous_variant,p.=,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,;							LOW	5046/6003		CHD3_HUMAN			Transcript			.	ENSP00000332628		CCDS32554.1			1	
PCDHAC1	0	LGGM	GRCh37	5	140308532	140308532	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	80	13	.	.	ENST00000253807.2:c.2055A>G	p.Val685=	p.V685=	ENST00000253807	NM_018898.3	685	gtA/gtG	0	1	1	UPI000013CDF7	0		ENST00000253807		ENSG00000248383	8676		93			HGNC	p.V685V		PCDHAC1		SNV							ENST00000409700	protein_coding			hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,Transmembrane_helices:TMhelix		V		G		2055/5299							YES	PCDHAC1,synonymous_variant,p.=,ENST00000253807,NM_018898.3;PCDHAC1,synonymous_variant,p.=,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;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;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;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,;							LOW	2055/2892		PCDC1_HUMAN			Transcript			.	ENSP00000253807		CCDS4241.1			1	
TRAV12-2	0	LGGM	GRCh37	14	22356447	22356447	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	13	.	.	ENST00000390437.2:c.105A>T	p.Pro35=	p.P35=	ENST00000390437		35	ccA/ccT	0	1	1	UPI000204A973	0		ENST00000390437		ENSG00000211789	12106		39			HGNC	p.P35P		TRAV12-2		SNV							ENST00000390437	TR_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR19343,Pfam_domain:PF07686,Gene3D:2.60.40.10,Superfamily_domains:SSF48726		P		T		210/445							YES	TRAV12-2,synonymous_variant,p.=,ENST00000390437,;							LOW	105/340					Transcript			.	ENSP00000437362					1	
C3orf52	0	LGGM	GRCh37	3	111831982	111831982	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	26	13	.	.	ENST00000431717.2:c.397-3507C>T		*133*	ENST00000431717	NM_001171747.1			0	1		UPI0000209F35	0		ENST00000264848		ENSG00000114529	26255		39			HGNC	p.L213L		C3orf52		SNV							ENST00000264848	protein_coding			hmmpanther:PTHR14636,hmmpanther:PTHR14636:SF0		L		T		698/2277								C3orf52,synonymous_variant,p.=,ENST00000264848,NM_024616.2;C3orf52,intron_variant,,ENST00000431717,NM_001171747.1;C3orf52,intron_variant,,ENST00000484828,;C3orf52,intron_variant,,ENST00000430855,;MIR567,downstream_gene_variant,,ENST00000385205,;C3orf52,non_coding_transcript_exon_variant,,ENST00000467942,;C3orf52,downstream_gene_variant,,ENST00000494096,;C3orf52,intron_variant,,ENST00000480282,;C3orf52,downstream_gene_variant,,ENST00000497610,;							LOW	639/654		TTMP_HUMAN			Transcript			.	ENSP00000264848		CCDS46887.1			1	
TLL2	0	LGGM	GRCh37	10	98157031	98157031	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	16	13	.	.	ENST00000357947.3:c.1296G>A	p.Glu432=	p.E432=	ENST00000357947	NM_012465.3	432	gaG/gaA	0	1	1	UPI0000073AEE	0		ENST00000357947		ENSG00000095587	11844		29			HGNC	p.E432E		TLL2		SNV							ENST00000357947	protein_coding			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		E		T		1522/6756							YES	TLL2,synonymous_variant,p.=,ENST00000357947,NM_012465.3;TLL2,non_coding_transcript_exon_variant,,ENST00000469598,;							LOW	1296/3048		TLL2_HUMAN			Transcript			.	ENSP00000350630		CCDS7449.1			1	
ZNF431	0	LGGM	GRCh37	19	21365910	21365910	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	13	.	.	ENST00000311048.7:c.804T>A	p.Ala268=	p.A268=	ENST00000311048	NM_133473.2	268	gcT/gcA	0	1	1	UPI0000191EAC	0		ENST00000311048		ENSG00000196705	20809		60			HGNC	p.A308A		ZNF431		SNV							ENST00000598331	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF118,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		A		A		948/3843							YES	ZNF431,synonymous_variant,p.=,ENST00000311048,NM_133473.2;ZNF431,synonymous_variant,p.=,ENST00000598331,;ZNF431,3_prime_UTR_variant,,ENST00000600692,;ZNF431,intron_variant,,ENST00000594425,;ZNF431,downstream_gene_variant,,ENST00000599296,;ZNF431,upstream_gene_variant,,ENST00000594821,;ZNF431,upstream_gene_variant,,ENST00000593426,;							LOW	804/1731		ZN431_HUMAN			Transcript			.	ENSP00000308578		CCDS32979.1			1	
PLXND1	0	LGGM	GRCh37	3	129276018	129276018	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	23	13	.	.	ENST00000324093.4:c.5494C>T	p.Arg1832Trp	p.R1832W	ENST00000324093	NM_015103.2	1832	Cgg/Tgg	0	1	1	UPI00003671AD	0	getma.org/pdb.php?prot=PLXD1_HUMAN&from=1344&to=1888&var=R1832W	ENST00000324093		ENSG00000004399	9107		36	1.645		HGNC	p.R1832W	rs751735983,COSM241197	PLXND1		SNV			1			0,1	ENST00000324093	protein_coding	getma.org/?cm=var&var=hg19,3,129276018,G,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Pfam_domain:PF08337,Superfamily_domains:SSF48350		R/W		A	low	5673/7094	1.50E-05	getma.org/?cm=msa&ty=f&p=PLXD1_HUMAN&rb=1344&re=1888&var=R1832W	deleterious(0)	Q6P657_HUMAN			YES	PLXND1,missense_variant,p.Arg1832Trp,ENST00000324093,NM_015103.2;PLXND1,missense_variant,p.Arg176Trp,ENST00000506979,;PLXND1,3_prime_UTR_variant,,ENST00000393239,;PLXND1,5_prime_UTR_variant,,ENST00000504689,;PLXND1,3_prime_UTR_variant,,ENST00000512744,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504524,;PLXND1,upstream_gene_variant,,ENST00000501038,;PLXND1,downstream_gene_variant,,ENST00000512807,;PLXND1,downstream_gene_variant,,ENST00000508630,;					0,1		MODERATE	5494/5778	R1832W	PLXD1_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000317128	8.24E-06	CCDS33854.1			1	
OR51E2	0	LGGM	GRCh37	11	4713387	4713387	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	13	.	.	ENST00000396950.3:c.-51+5496A>T		*17*	ENST00000396950	NM_030774.3			0	1	1	UPI000003B49B	0		ENST00000396950		ENSG00000167332	15195		75			HGNC	p.N3I		OR51E2		SNV							ENST00000357764	protein_coding							A		-/2781				E9PPJ8_HUMAN			YES	OR51E2,intron_variant,,ENST00000396950,NM_030774.3;OR51E2,intron_variant,,ENST00000532598,;OR51C1P,splice_region_variant,,ENST00000357764,;OR51C1P,upstream_gene_variant,,ENST00000608504,;							MODIFIER	-/963		O51E2_HUMAN			Transcript			.	ENSP00000380153		CCDS7751.1			1	
SLC4A7	0	LGGM	GRCh37	3	27475430	27475430	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	13	.	.	ENST00000295736.5:c.728A>T	p.Asp243Val	p.D243V	ENST00000295736	NM_003615.4	243	gAc/gTc	0	1	1	UPI0000DBEEB7	0	NA	ENST00000295736		ENSG00000033867	11033		65	0.895		HGNC	p.D243V		SLC4A7		SNV							ENST00000428179	protein_coding	getma.org/?cm=var&var=hg19,3,27475430,T,A&fts=all		Gene3D:1hynR00,Pfam_domain:PF07565,hmmpanther:PTHR11453,hmmpanther:PTHR11453:SF36,Superfamily_domains:SSF55804		D/V		A	low	799/7757		getma.org/?cm=msa&ty=f&p=S4A7_HUMAN&rb=141&re=532&var=D243V	deleterious(0.01)				YES	SLC4A7,missense_variant,p.Asp243Val,ENST00000295736,NM_003615.4;SLC4A7,missense_variant,p.Asp243Val,ENST00000428386,NM_001258380.1;SLC4A7,missense_variant,p.Asp252Val,ENST00000454389,;SLC4A7,missense_variant,p.Asp252Val,ENST00000435667,;SLC4A7,missense_variant,p.Asp248Val,ENST00000455077,NM_001258379.1;SLC4A7,missense_variant,p.Asp248Val,ENST00000437179,;SLC4A7,missense_variant,p.Asp243Val,ENST00000428179,;SLC4A7,5_prime_UTR_variant,,ENST00000388777,;SLC4A7,intron_variant,,ENST00000440156,;SLC4A7,intron_variant,,ENST00000445684,;SLC4A7,intron_variant,,ENST00000446700,;SLC4A7,intron_variant,,ENST00000425128,;SLC4A7,missense_variant,p.Asp248Val,ENST00000457377,;SLC4A7,missense_variant,p.Asp248Val,ENST00000437266,;SLC4A7,non_coding_transcript_exon_variant,,ENST00000428005,;SLC4A7,intron_variant,,ENST00000438530,;							MODERATE	728/3645	D243V	S4A7_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000295736		CCDS33721.1			1	
LRRC4C	0	LGGM	GRCh37	11	40137312	40137312	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	13	.	.	ENST00000278198.2:c.531A>T	p.Leu177=	p.L177=	ENST00000278198		177	ctA/ctT	0	1	1	UPI000000D9A7	0		ENST00000278198		ENSG00000148948	29317		62			HGNC	p.L177L		LRRC4C		SNV							ENST00000530763	protein_coding			hmmpanther:PTHR24369:SF8,hmmpanther:PTHR24369,Gene3D:3.80.10.10,Pfam_domain:PF13306,Superfamily_domains:SSF52058		L		A		2495/4054				E9PLP4_HUMAN			YES	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,;							LOW	531/1923		LRC4C_HUMAN			Transcript			.	ENSP00000278198		CCDS31464.1			1	
DDX18	0	LGGM	GRCh37	2	118582531	118582531	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	13	.	.	ENST00000263239.2:c.1222C>T	p.Pro408Ser	p.P408S	ENST00000263239	NM_006773.3	408	Cct/Tct	0	1	1	UPI000012907E	0	getma.org/pdb.php?prot=DDX18_HUMAN&from=399&to=569&var=P408S	ENST00000263239		ENSG00000088205	2741		64	1.59		HGNC	p.P408S	rs775390970	DDX18		SNV							ENST00000263239	protein_coding	getma.org/?cm=var&var=hg19,2,118582531,C,T&fts=all		PROSITE_profiles:PS51194,hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF171,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		P/S		T	low	1350/3796	1.51E-05	getma.org/?cm=msa&ty=f&p=DDX18_HUMAN&rb=399&re=569&var=P408S	deleterious(0.04)	Q53TI6_HUMAN,Q4ZG72_HUMAN			YES	DDX18,missense_variant,p.Pro408Ser,ENST00000263239,NM_006773.3;DDX18,intron_variant,,ENST00000415038,;DDX18,downstream_gene_variant,,ENST00000474694,;DDX18,non_coding_transcript_exon_variant,,ENST00000476149,;DDX18,downstream_gene_variant,,ENST00000489933,;DDX18,upstream_gene_variant,,ENST00000461443,;							MODERATE	1222/2013	P408S	DDX18_HUMAN			Transcript		benign(0.066)	.	ENSP00000263239	8.24E-06	CCDS2120.1			1	
VPS53	0	LGGM	GRCh37	17	465748	465748	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	13	.	.	ENST00000437048.2:c.1551G>A	p.Leu517=	p.L517=	ENST00000437048	NM_001128159.2	517	ctG/ctA	0	1		UPI000013ECF4	0		ENST00000571805		ENSG00000141252	25608		40			HGNC	p.L240L		VPS53		SNV			1				ENST00000401468	protein_coding			hmmpanther:PTHR12820:SF0,hmmpanther:PTHR12820		L		T		1688/2356				I3L4P9_HUMAN				VPS53,synonymous_variant,p.=,ENST00000437048,NM_001128159.2;VPS53,synonymous_variant,p.=,ENST00000446250,;VPS53,synonymous_variant,p.=,ENST00000291074,NM_018289.3;VPS53,synonymous_variant,p.=,ENST00000571805,;VPS53,synonymous_variant,p.=,ENST00000401468,;VPS53,intron_variant,,ENST00000574029,;VPS53,non_coding_transcript_exon_variant,,ENST00000576149,;VPS53,synonymous_variant,p.=,ENST00000389040,;VPS53,3_prime_UTR_variant,,ENST00000573028,;VPS53,non_coding_transcript_exon_variant,,ENST00000572607,;							LOW	1551/2100		VPS53_HUMAN			Transcript			.	ENSP00000459312					1	
PRIM1	0	LGGM	GRCh37	12	57144859	57144859	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	13	.	.	ENST00000338193.6:c.224C>T	p.Pro75Leu	p.P75L	ENST00000338193	NM_000946.2	75	cCa/cTa	0	1	1	UPI00001321AF	0	NA	ENST00000338193		ENSG00000198056	9369		71	3.52		HGNC	p.P78L		PRIM1		SNV							ENST00000550770	protein_coding	getma.org/?cm=var&var=hg19,12,57144859,G,A&fts=all		Superfamily_domains:SSF56747,TIGRFAM_domain:TIGR00335,Gene3D:1v33A01,hmmpanther:PTHR10536		P/L		A	high	261/1393		getma.org/?cm=msa&ty=f&p=PRI1_HUMAN&rb=1&re=107&var=P75L	deleterious(0)				YES	PRIM1,missense_variant,p.Pro75Leu,ENST00000338193,NM_000946.2;PRIM1,missense_variant,p.Pro78Leu,ENST00000550770,;HSD17B6,upstream_gene_variant,,ENST00000554643,;HSD17B6,upstream_gene_variant,,ENST00000555805,;HSD17B6,upstream_gene_variant,,ENST00000554150,;HSD17B6,upstream_gene_variant,,ENST00000555159,;HSD17B6,upstream_gene_variant,,ENST00000554155,;HSD17B6,upstream_gene_variant,,ENST00000556650,;PRIM1,non_coding_transcript_exon_variant,,ENST00000552408,;PRIM1,non_coding_transcript_exon_variant,,ENST00000546761,;HSD17B6,upstream_gene_variant,,ENST00000556481,;PRIM1,missense_variant,p.Pro75Leu,ENST00000552590,;PRIM1,non_coding_transcript_exon_variant,,ENST00000550224,;PRIM1,non_coding_transcript_exon_variant,,ENST00000548173,;							MODERATE	224/1263	P75L	PRI1_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000350491		CCDS44926.1			1	
STAC3	0	LGGM	GRCh37	12	57638932	57638932	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	13	.	.	ENST00000332782.2:c.666G>T	p.Gln222His	p.Q222H	ENST00000332782	NM_145064.1	222	caG/caT	0	1	1	UPI000006E4D3	0	NA	ENST00000332782		ENSG00000185482	28423		62	0.69		HGNC	p.Q183H		STAC3		SNV			1				ENST00000554578	protein_coding	getma.org/?cm=var&var=hg19,12,57638932,C,A&fts=all		hmmpanther:PTHR15135,hmmpanther:PTHR15135:SF2		Q/H		A	neutral	868/1656		getma.org/?cm=msa&ty=f&p=STAC3_HUMAN&rb=143&re=252&var=Q222H	tolerated(0.06)	G3V5D4_HUMAN,B4DUK9_HUMAN			YES	STAC3,missense_variant,p.Gln222His,ENST00000332782,NM_145064.1;STAC3,missense_variant,p.Gln183His,ENST00000554578,NM_001286256.1;STAC3,missense_variant,p.Gln36His,ENST00000546246,NM_001286257.1;R3HDM2,downstream_gene_variant,,ENST00000413953,;NDUFA4L2,upstream_gene_variant,,ENST00000393825,NM_020142.3;STAC3,downstream_gene_variant,,ENST00000553489,;NDUFA4L2,upstream_gene_variant,,ENST00000557276,;NDUFA4L2,upstream_gene_variant,,ENST00000556234,;STAC3,non_coding_transcript_exon_variant,,ENST00000554003,;STAC3,intron_variant,,ENST00000557176,;RP11-123K3.4,downstream_gene_variant,,ENST00000548184,;STAC3,downstream_gene_variant,,ENST00000553294,;							MODERATE	666/1095	Q222H	STAC3_HUMAN			Transcript		benign(0.178)	.	ENSP00000329200		CCDS8936.1			1	
FSIP2	0	LGGM	GRCh37	2	186670752	186670752	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	13	.	.	ENST00000343098.5:c.16986A>G	p.Thr5662=	p.T5662=	ENST00000343098	NM_173651.2	5662	acA/acG	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		78			HGNC	p.T5573T		FSIP2		SNV							ENST00000424728	protein_coding			hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		T		G		16719/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;FSIP2,intron_variant,,ENST00000415915,;							LOW	16719/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306					1	
FOCAD	0	LGGM	GRCh37	9	20993259	20993259	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	13	.	.	ENST00000380249.1:c.5264A>T	p.Asp1755Val	p.D1755V	ENST00000380249	NM_017794.3	1755	gAc/gTc	0	1		UPI00002111D4	0	NA	ENST00000338382		ENSG00000188352	23377		50	2.24		HGNC	p.D1755V		FOCAD		SNV							ENST00000338382	protein_coding	getma.org/?cm=var&var=hg19,9,20993259,A,T&fts=all		hmmpanther:PTHR16212:SF4,hmmpanther:PTHR16212,Pfam_domain:PF11229		D/V		T	medium	5264/5725		getma.org/?cm=msa&ty=f&p=K1797_HUMAN&rb=1213&re=1801&var=D1755V	deleterious(0)	S4R450_HUMAN,S4R400_HUMAN,S4R3S9_HUMAN				FOCAD,missense_variant,p.Asp1755Val,ENST00000380249,NM_017794.3;FOCAD,missense_variant,p.Asp1755Val,ENST00000338382,;FOCAD,missense_variant,p.Asp1191Val,ENST00000605086,;PTPLAD2,downstream_gene_variant,,ENST00000513293,;							MODERATE	5264/5406	D1755V	FOCAD_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000344307		CCDS34993.1			1	
EPB41L2	0	LGGM	GRCh37	6	131277408	131277408	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	71	13	.	.	ENST00000337057.3:c.218G>A	p.Gly73Asp	p.G73D	ENST00000337057	NM_001431.3	73	gGt/gAt	0	1	1	UPI0000129AF9	0	NA	ENST00000337057		ENSG00000079819	3379		84	1.1		HGNC	p.G73D		EPB41L2		SNV							ENST00000445890	protein_coding	getma.org/?cm=var&var=hg19,6,131277408,C,T&fts=all		PIRSF_domain:PIRSF002304		G/D		T	low	400/4457		getma.org/?cm=msa&ty=f&p=E41L2_HUMAN&rb=1&re=200&var=G73D	deleterious(0)	E9PRG1_HUMAN,E9PQN0_HUMAN,E9PQD2_HUMAN,E9PJP4_HUMAN,E9PIG0_HUMAN			YES	EPB41L2,missense_variant,p.Gly73Asp,ENST00000337057,NM_001431.3;EPB41L2,missense_variant,p.Gly73Asp,ENST00000368128,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000527411,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000530481,NM_001199388.2;EPB41L2,missense_variant,p.Gly73Asp,ENST00000445890,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000528282,NM_001252660.1;EPB41L2,missense_variant,p.Gly73Asp,ENST00000392427,NM_001135554.1,NM_001135555.3;EPB41L2,missense_variant,p.Gly73Asp,ENST00000529208,NM_001199389.1;EPB41L2,missense_variant,p.Gly73Asp,ENST00000525271,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000527659,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000525193,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000532499,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000531356,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000529709,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000530707,;EPB41L2,missense_variant,p.Gly73Asp,ENST00000526983,;EPB41L2,intron_variant,,ENST00000530148,;EPB41L2,intron_variant,,ENST00000528179,;EPB41L2,intron_variant,,ENST00000526333,;							MODERATE	218/3018	G73D	E41L2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000338481		CCDS5141.1			1	
DCAF17	0	LGGM	GRCh37	2	172305235	172305235	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	13	.	.	ENST00000375255.3:c.366A>G	p.Ile122Met	p.I122M	ENST00000375255	NM_025000.3	122	atA/atG	0	1	1	UPI00004C429A	0	NA	ENST00000375255		ENSG00000115827	25784		42	1.7		HGNC	p.I122M		DCAF17		SNV			1				ENST00000539783	protein_coding	getma.org/?cm=var&var=hg19,2,172305235,A,G&fts=all		hmmpanther:PTHR14815,hmmpanther:PTHR14815:SF1		I/M		G	low	693/5828		getma.org/?cm=msa&ty=f&p=DCA17_HUMAN&rb=1&re=517&var=I122M	tolerated(0.1)				YES	DCAF17,missense_variant,p.Ile122Met,ENST00000375255,NM_025000.3;DCAF17,missense_variant,p.Ile122Met,ENST00000539783,NM_001164821.1;DCAF17,upstream_gene_variant,,ENST00000339506,;DCAF17,non_coding_transcript_exon_variant,,ENST00000468592,;DCAF17,non_coding_transcript_exon_variant,,ENST00000490217,;DCAF17,non_coding_transcript_exon_variant,,ENST00000495925,;DCAF17,3_prime_UTR_variant,,ENST00000436317,;DCAF17,non_coding_transcript_exon_variant,,ENST00000480855,;							MODERATE	366/1563	I122M	DCA17_HUMAN			Transcript		probably_damaging(0.918)	.	ENSP00000364404		CCDS2243.2			1	
TGFBR3	0	LGGM	GRCh37	1	92174250	92174250	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	13	.	.	ENST00000212355.4:c.2257G>A	p.Ala753Thr	p.A753T	ENST00000212355	NM_001195683.1	753	Gct/Act	0	1	1	UPI000049D997	0	getma.org/pdb.php?prot=TGBR3_HUMAN&from=731&to=849&var=A753T	ENST00000212355		ENSG00000069702	11774		57	1.39		HGNC	p.A752T		TGFBR3		SNV			1				ENST00000465892	protein_coding	getma.org/?cm=var&var=hg19,1,92174250,C,T&fts=all		hmmpanther:PTHR14002,hmmpanther:PTHR14002:SF5		A/T		T	low	2723/6416		getma.org/?cm=msa&ty=f&p=TGBR3_HUMAN&rb=731&re=849&var=A753T	tolerated(0.05)	E9PAW7_HUMAN			YES	TGFBR3,missense_variant,p.Ala753Thr,ENST00000212355,NM_001195683.1,NM_003243.4;TGFBR3,missense_variant,p.Ala752Thr,ENST00000370399,NM_001195684.1;TGFBR3,missense_variant,p.Ala753Thr,ENST00000525962,;TGFBR3,missense_variant,p.Ala752Thr,ENST00000465892,;TGFBR3,3_prime_UTR_variant,,ENST00000533089,;TGFBR3,3_prime_UTR_variant,,ENST00000532540,;TGFBR3,non_coding_transcript_exon_variant,,ENST00000470600,;							MODERATE	2257/2556	A753T	TGBR3_HUMAN			Transcript		possibly_damaging(0.836)	.	ENSP00000212355		CCDS30770.1			1	
C17orf97	0	LGGM	GRCh37	17	263586	263645	+	inframe_deletion	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	novel	by Submitter	H112501	H112501N.bam	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	21	28	.	.	ENST00000360127.6:c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys330_Pro349del	p.K330_P349del	ENST00000360127	NM_001013672.4	318	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC/-	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		49			HGNC	p.318_337del	TMP_ESP_17_263586_263645	C17orf97		deletion	-:0.4378						ENST00000360127	protein_coding					DPEALKGFHPDPKALKGFHP/-	-:0.2693	-		968-1027/1839							YES	C17orf97,inframe_deletion,p.Lys330_Pro349del,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;							MODERATE	952-1011/1272		CQ097_HUMAN			Transcript	36		.	ENSP00000353245		CCDS32519.2			1	
PDS5A	0	LGGM	GRCh37	4	39891868	39891868	+	splice_donor_variant	Splice_Site	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	14	.	.	ENST00000303538.8:c.1886+1G>A		p.X629_splice	ENST00000303538	NM_001100399.1			0	1	1	UPI00006C6A7E	0		ENST00000303538		ENSG00000121892	29088		87			HGNC	-		PDS5A		SNV							ENST00000303538	protein_coding							T		-/7176				Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN			YES	PDS5A,splice_donor_variant,,ENST00000303538,NM_001100399.1;							HIGH	1886/4014		PDS5A_HUMAN			Transcript			.	ENSP00000303427		CCDS47045.1			1	
HERPUD1	0	LGGM	GRCh37	16	56970730	56970730	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	14	.	.	ENST00000439977.2:c.431+1G>A		p.X144_splice	ENST00000439977	NM_014685.3			0	1	1	UPI0000000B03	0		ENST00000439977		ENSG00000051108	13744		76			HGNC	-		HERPUD1		SNV							ENST00000439977	protein_coding							A		-/1964				Q9HBR2_HUMAN,B4E3N8_HUMAN			YES	HERPUD1,splice_donor_variant,,ENST00000439977,NM_014685.3,NM_001272103.1,NM_001010989.2;HERPUD1,splice_donor_variant,,ENST00000300302,;HERPUD1,splice_donor_variant,,ENST00000379792,;HERPUD1,splice_donor_variant,,ENST00000344114,;HERPUD1,splice_donor_variant,,ENST00000563911,;HERPUD1,splice_donor_variant,,ENST00000568358,;HERPUD1,splice_donor_variant,,ENST00000563343,;HERPUD1,splice_donor_variant,,ENST00000569429,;HERPUD1,upstream_gene_variant,,ENST00000568651,;RP11-325K4.2,upstream_gene_variant,,ENST00000570210,;RP11-325K4.3,upstream_gene_variant,,ENST00000565861,;HERPUD1,splice_donor_variant,,ENST00000570273,;HERPUD1,splice_donor_variant,,ENST00000563781,;HERPUD1,splice_donor_variant,,ENST00000564678,;HERPUD1,splice_donor_variant,,ENST00000565966,;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,;							HIGH	431/1176		HERP1_HUMAN			Transcript			.	ENSP00000409555		CCDS10771.1			1	
COL1A2	0	LGGM	GRCh37	7	94042450	94042450	+	splice_donor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	14	.	.	ENST00000297268.6:c.1557+2T>A		p.X519_splice	ENST00000297268	NM_000089.3			0	1	1	UPI00003B0CFC	0		ENST00000297268		ENSG00000164692	2198		93			HGNC	-		COL1A2		SNV			1				ENST00000297268	protein_coding							A		-/5411				Q75N18_HUMAN,A2TIK1_HUMAN			YES	COL1A2,splice_donor_variant,,ENST00000297268,NM_000089.3;COL1A2,upstream_gene_variant,,ENST00000497316,;COL1A2,upstream_gene_variant,,ENST00000473573,;COL1A2,upstream_gene_variant,,ENST00000461525,;COL1A2,upstream_gene_variant,,ENST00000488298,;							HIGH	1557/4101		CO1A2_HUMAN			Transcript			.	ENSP00000297268		CCDS34682.1			1	
DOPEY2	0	LGGM	GRCh37	21	37583850	37583850	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	14	.	.	ENST00000399151.3:c.682-1G>A		p.X228_splice	ENST00000399151	NM_005128.2			0	1	1	UPI000013D876	0		ENST00000399151		ENSG00000142197	1291		44			HGNC	-		DOPEY2		SNV							ENST00000399151	protein_coding							A		-/7685				F8W8U9_HUMAN			YES	DOPEY2,splice_acceptor_variant,,ENST00000399151,NM_005128.2;RN7SL73P,downstream_gene_variant,,ENST00000585239,;DOPEY2,splice_acceptor_variant,,ENST00000492760,;							HIGH	682/6897		DOP2_HUMAN			Transcript			.	ENSP00000382104		CCDS13643.1			1	
STEAP4	0	LGGM	GRCh37	7	87912235	87912235	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	14	.	.	ENST00000380079.4:c.705A>T	p.Thr235=	p.T235=	ENST00000380079	NM_024636.3	235	acA/acT	0	1	1	UPI000003C39A	0		ENST00000380079		ENSG00000127954	21923		66			HGNC	p.T235T		STEAP4		SNV							ENST00000380079	protein_coding			hmmpanther:PTHR14239,hmmpanther:PTHR14239:SF5		T		A		807/4451							YES	STEAP4,synonymous_variant,p.=,ENST00000380079,NM_024636.3,NM_001205315.1;STEAP4,synonymous_variant,p.=,ENST00000414498,;STEAP4,intron_variant,,ENST00000301959,NM_001205316.1;AC003991.3,intron_variant,,ENST00000600908,;AC003991.3,intron_variant,,ENST00000595121,;AC003991.3,intron_variant,,ENST00000447758,;AC003991.3,intron_variant,,ENST00000434733,;							LOW	705/1380		STEA4_HUMAN			Transcript			.	ENSP00000369419		CCDS43611.1			1	
TICRR	0	LGGM	GRCh37	15	90126024	90126024	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	14	.	.	ENST00000268138.7:c.762A>T	p.Gln254His	p.Q254H	ENST00000268138		254	caA/caT	0	1	1	UPI0000D61399	0	NA	ENST00000268138		ENSG00000140534	28704		63	0.805		HGNC	p.Q254H		TICRR		SNV							ENST00000268138	protein_coding	getma.org/?cm=var&var=hg19,15,90126024,A,T&fts=all		Pfam_domain:PF15292,hmmpanther:PTHR21556		Q/H		T	low	867/6771		getma.org/?cm=msa&ty=f&p=TICRR_HUMAN&rb=1&re=1145&var=Q254H	tolerated(0.34)				YES	TICRR,missense_variant,p.Gln254His,ENST00000268138,;TICRR,missense_variant,p.Gln254His,ENST00000560985,NM_152259.3;RP11-429B14.1,intron_variant,,ENST00000559041,;RP11-429B14.3,upstream_gene_variant,,ENST00000560477,;							MODERATE	762/5733	Q254H	TICRR_HUMAN			Transcript		benign(0.004)	.	ENSP00000268138		CCDS10352.2			1	
MYBL2	0	LGGM	GRCh37	20	42344685	42344685	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	14	.	.	ENST00000217026.4:c.2061C>G	p.Arg687=	p.R687=	ENST00000217026	NM_002466.3	687	cgC/cgG	0	1	1	UPI000012FAE1	0		ENST00000217026		ENSG00000101057	7548		64			HGNC	p.R687R		MYBL2		SNV							ENST00000217026	protein_coding			hmmpanther:PTHR10641,hmmpanther:PTHR10641:SF37		R		G		2188/2639							YES	MYBL2,synonymous_variant,p.=,ENST00000217026,NM_002466.3;MYBL2,synonymous_variant,p.=,ENST00000396863,NM_001278610.1;							LOW	2061/2103		MYBB_HUMAN			Transcript			.	ENSP00000217026		CCDS13322.1			1	
PTCRA	0	LGGM	GRCh37	6	42890884	42890884	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	14	.	.	ENST00000304672.1:c.178C>T	p.Pro60Ser	p.P60S	ENST00000304672	NM_001243168.1	60	Ccc/Tcc	0	1	1	UPI000013E9B5	0	getma.org/pdb.php?prot=PTCRA_HUMAN&from=1&to=279&var=P60S	ENST00000304672		ENSG00000171611	21290		61	0.55		HGNC	p.P35S		PTCRA		SNV							ENST00000441198	protein_coding	getma.org/?cm=var&var=hg19,6,42890884,C,T&fts=all		Superfamily_domains:SSF48726,Gene3D:2.60.40.10,Pfam_domain:PF15028		P/S		T	neutral	259/1080		getma.org/?cm=msa&ty=f&p=PTCRA_HUMAN&rb=1&re=279&var=P60S	tolerated(0.16)				YES	PTCRA,missense_variant,p.Pro60Ser,ENST00000304672,NM_001243168.1,NM_138296.2;PTCRA,missense_variant,p.Pro35Ser,ENST00000441198,NM_001243169.1;PTCRA,intron_variant,,ENST00000446507,NM_001243170.1;							MODERATE	178/846	P60S	PTCRA_HUMAN			Transcript		benign(0.422)	.	ENSP00000304447		CCDS4874.1			1	
PCDHGA8	0	LGGM	GRCh37	5	140773898	140773898	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	87	14	.	.	ENST00000398604.2:c.1518C>A	p.Ser506=	p.S506=	ENST00000398604	NM_032088.1	506	tcC/tcA	0	1	1	UPI000006FC06	0		ENST00000398604		ENSG00000253767	8706		101			HGNC	p.S506S		PCDHGA8		SNV							ENST00000398604	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF72,SMART_domains:SM00112,Superfamily_domains:SSF49313		S		A		1518/4605				Q9UKW1_HUMAN,Q9BT64_HUMAN			YES	PCDHGA8,synonymous_variant,p.=,ENST00000398604,NM_032088.1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,NM_032097.1;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;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.2;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;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;							LOW	1518/2799		PCDG8_HUMAN			Transcript			.	ENSP00000381605		CCDS47291.1			1	
SMC5	0	LGGM	GRCh37	9	72897422	72897422	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	14	.	.	ENST00000361138.5:c.904G>A	p.Gly302Arg	p.G302R	ENST00000361138	NM_015110.3	302	Ggg/Agg	0	1	1	UPI000036763A	0	NA	ENST00000361138		ENSG00000198887	20465		59	-0.345		HGNC	p.G302R		SMC5		SNV							ENST00000361138	protein_coding	getma.org/?cm=var&var=hg19,9,72897422,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF02463,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF1		G/R		A	neutral	962/5921		getma.org/?cm=msa&ty=f&p=SMC5_HUMAN&rb=52&re=1071&var=G302R	tolerated(0.53)				YES	SMC5,missense_variant,p.Gly302Arg,ENST00000361138,NM_015110.3;							MODERATE	904/3306	G302R	SMC5_HUMAN			Transcript		benign(0.063)	.	ENSP00000354957		CCDS6632.1			1	
SCAF11	0	LGGM	GRCh37	12	46322440	46322440	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	14	.	.	ENST00000369367.3:c.1044C>T	p.Ala348=	p.A348=	ENST00000369367	NM_004719.2	348	gcC/gcT	0	1	1	UPI0000D481F2	0		ENST00000369367		ENSG00000139218	10784		57			HGNC	p.A348A		SCAF11		SNV							ENST00000369367	protein_coding			hmmpanther:PTHR15242,hmmpanther:PTHR15242:SF3		A		A		1278/5265				F8VXG7_HUMAN			YES	SCAF11,synonymous_variant,p.=,ENST00000465950,;SCAF11,synonymous_variant,p.=,ENST00000369367,NM_004719.2;SCAF11,synonymous_variant,p.=,ENST00000419565,;SCAF11,synonymous_variant,p.=,ENST00000549162,;SCAF11,upstream_gene_variant,,ENST00000550629,;SCAF11,downstream_gene_variant,,ENST00000484275,;SCAF11,synonymous_variant,p.=,ENST00000547018,;SCAF11,downstream_gene_variant,,ENST00000546534,;SCAF11,upstream_gene_variant,,ENST00000547950,;							LOW	1044/4392		SCAFB_HUMAN			Transcript			.	ENSP00000358374		CCDS8748.2			1	
OTUD6B	0	LGGM	GRCh37	8	92090641	92090641	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	14	.	.	ENST00000285420.4:c.463G>A	p.Glu155Lys	p.E155K	ENST00000285420	NM_016023.3	155	Gaa/Aaa	0	1		UPI000057A097	0	NA	ENST00000404789		ENSG00000155100	24281		67	1.82		HGNC	p.E155K		OTUD6B		SNV							ENST00000285420	protein_coding	getma.org/?cm=var&var=hg19,8,92090641,G,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12419,hmmpanther:PTHR12419:SF1		E/K		A	low	573/1631		getma.org/?cm=msa&ty=f&p=OTU6B_HUMAN&rb=1&re=152&var=E125K	deleterious(0.02)	B4DEY0_HUMAN				OTUD6B,missense_variant,p.Glu155Lys,ENST00000285420,NM_016023.3;OTUD6B,missense_variant,p.Glu24Lys,ENST00000404789,NM_001286745.1;OTUD6B,3_prime_UTR_variant,,ENST00000522894,;OTUD6B,non_coding_transcript_exon_variant,,ENST00000524027,;							MODERATE	70/579	E125K	OTU6B_HUMAN			Transcript		unknown(0)	.	ENSP00000384190		CCDS69513.1			1	
NEFH	0	LGGM	GRCh37	22	29885145	29885145	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	14	.	.	ENST00000310624.6:c.1516G>A	p.Ala506Thr	p.A506T	ENST00000310624	NM_021076.3	506	Gca/Aca	0	1	1	UPI00001AEF71	0	NA	ENST00000310624		ENSG00000100285	7737		57	1.39		HGNC	p.A506T		NEFH		SNV			1				ENST00000310624	protein_coding	getma.org/?cm=var&var=hg19,22,29885145,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23214:SF1,hmmpanther:PTHR23214		A/T		A	low	1549/3783		getma.org/?cm=msa&ty=f&p=NFH_HUMAN&rb=413&re=535&var=A506T	tolerated(0.17)				YES	NEFH,missense_variant,p.Ala506Thr,ENST00000310624,NM_021076.3;							MODERATE	1516/3063	A506T	NFH_HUMAN			Transcript		unknown(0)	.	ENSP00000311997		CCDS13858.1			1	
NRXN1	0	LGGM	GRCh37	2	50850753	50850753	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	14	.	.	ENST00000404971.1:c.932G>A	p.Gly311Glu	p.G311E	ENST00000404971	NM_001135659.1	311	gGa/gAa	0	1		UPI0000130A9D	0	NA	ENST00000406316		ENSG00000179915	8008		80	1.355		HGNC	p.G311E	COSM3582162,COSM3582160,COSM3582163,COSM3582161	NRXN1		SNV			1			1,1,1,1	ENST00000404971	protein_coding	getma.org/?cm=var&var=hg19,2,50850753,C,T&fts=all		Gene3D:2.60.120.200,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565		G/E		T	low	2310/7505		getma.org/?cm=msa&ty=f&p=NRX1A_HUMAN&rb=193&re=311&var=G278E	deleterious(0.03)	Q08AH0_HUMAN				NRXN1,missense_variant,p.Gly311Glu,ENST00000404971,NM_001135659.1;NRXN1,missense_variant,p.Gly278Glu,ENST00000406316,NM_004801.4;NRXN1,missense_variant,p.Gly278Glu,ENST00000401669,;NRXN1,missense_variant,p.Gly278Glu,ENST00000405472,;NRXN1,missense_variant,p.Arg278Lys,ENST00000402717,;NRXN1,missense_variant,p.Arg278Lys,ENST00000406859,;NRXN1,splice_region_variant,,ENST00000331040,;NRXN1,upstream_gene_variant,,ENST00000495871,;					1,1,1,1		MODERATE	833/4434	G278E	NRX1A_HUMAN			Transcript		benign(0)	.	ENSP00000384311		CCDS54360.1			1	
MUC7	0	LGGM	GRCh37	4	71346809	71346809	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	14	.	.	ENST00000413702.1:c.348C>T	p.Phe116=	p.F116=	ENST00000413702	NM_001145006.1	116	ttC/ttT	0	1		UPI000013E9DD	0		ENST00000304887		ENSG00000171195	7518		51			HGNC	p.F116F		MUC7		SNV			1				ENST00000304887	protein_coding					F		T		538/2443				D6RHX1_HUMAN				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,downstream_gene_variant,,ENST00000504482,;							LOW	348/1134		MUC7_HUMAN			Transcript			.	ENSP00000302021		CCDS3541.1			1	
UBN2	0	LGGM	GRCh37	7	138967953	138967953	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	14	.	.	ENST00000473989.3:c.2302G>A	p.Asp768Asn	p.D768N	ENST00000473989	NM_173569.3	768	Gat/Aat	0	1	1	UPI00001D74DF	0	NA	ENST00000473989		ENSG00000157741	21931		64	2.215		HGNC	p.D768N		UBN2		SNV							ENST00000473989	protein_coding	getma.org/?cm=var&var=hg19,7,138967953,G,A&fts=all		hmmpanther:PTHR16426,hmmpanther:PTHR16426:SF15		D/N		A	medium	2302/14444		getma.org/?cm=msa&ty=f&p=UBN2_HUMAN&rb=665&re=790&var=D768N	deleterious(0)	C9J6Y5_HUMAN			YES	UBN2,missense_variant,p.Asp768Asn,ENST00000473989,NM_173569.3;UBN2,missense_variant,p.Asp685Asn,ENST00000288561,;							MODERATE	2302/4044	D768N	UBN2_HUMAN			Transcript		benign(0.226)	.	ENSP00000418648		CCDS43655.2			1	
SYCP2	0	LGGM	GRCh37	20	58494582	58494582	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	14	.	.	ENST00000357552.3:c.368T>A	p.Leu123Gln	p.L123Q	ENST00000357552		123	cTa/cAa	0	1	1	UPI0000135683	0	NA	ENST00000357552		ENSG00000196074	11490		62	1.04		HGNC	p.L123Q		SYCP2		SNV							ENST00000371001	protein_coding	getma.org/?cm=var&var=hg19,20,58494582,A,T&fts=all		hmmpanther:PTHR15607,hmmpanther:PTHR15607:SF12		L/Q		T	low	594/5567		getma.org/?cm=msa&ty=f&p=SYCP2_HUMAN&rb=1&re=399&var=L123Q	deleterious(0.01)	A2A341_HUMAN			YES	SYCP2,missense_variant,p.Leu123Gln,ENST00000357552,;SYCP2,missense_variant,p.Leu123Gln,ENST00000371001,NM_014258.2;SYCP2,missense_variant,p.Leu123Gln,ENST00000446834,;SYCP2,downstream_gene_variant,,ENST00000425931,;SYCP2,non_coding_transcript_exon_variant,,ENST00000476314,;SYCP2,upstream_gene_variant,,ENST00000471331,;							MODERATE	368/4593	L123Q	SYCP2_HUMAN			Transcript		possibly_damaging(0.667)	.	ENSP00000350162		CCDS13482.1			1	
SERINC3	0	LGGM	GRCh37	20	43141588	43141588	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	14	.	.	ENST00000342374.4:c.249A>T	p.Ile83=	p.I83=	ENST00000342374	NM_006811.2	83	atA/atT	0	1		UPI0000136B4D	0		ENST00000255175		ENSG00000132824	11699		56			HGNC	p.I83I		SERINC3		SNV							ENST00000255175	protein_coding			Pfam_domain:PF03348,hmmpanther:PTHR10383,hmmpanther:PTHR10383:SF13		I		A		383/1726				Q5H936_HUMAN,B4DUE9_HUMAN				SERINC3,synonymous_variant,p.=,ENST00000342374,NM_006811.2;SERINC3,synonymous_variant,p.=,ENST00000255175,NM_198941.1;SERINC3,synonymous_variant,p.=,ENST00000541235,;SERINC3,downstream_gene_variant,,ENST00000468234,;							LOW	249/1422		SERC3_HUMAN			Transcript			.	ENSP00000255175		CCDS13333.1			1	
ARHGEF10	0	LGGM	GRCh37	8	1881976	1881976	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	14	.	.	ENST00000349830.3:c.3090G>A	p.Trp1030Ter	p.W1030*	ENST00000349830	NM_014629.2	1030	tgG/tgA	0	1		UPI0000D89824	0	NA	ENST00000398564		ENSG00000104728	14103		61	0		HGNC	p.W992X		ARHGEF10		SNV			1				ENST00000520359	protein_coding	getma.org/?cm=var&var=hg19,8,1881976,G,A&fts=all		Gene3D:2.130.10.10,hmmpanther:PTHR12877,hmmpanther:PTHR12877:SF14,Superfamily_domains:SSF50978		W/*		A	NA	3165/5480		NA						ARHGEF10,stop_gained,p.Trp1054Ter,ENST00000518288,;ARHGEF10,stop_gained,p.Trp1030Ter,ENST00000349830,NM_014629.2;ARHGEF10,stop_gained,p.Trp1055Ter,ENST00000398564,;ARHGEF10,stop_gained,p.Trp992Ter,ENST00000520359,;ARHGEF10,stop_gained,p.Trp1026Ter,ENST00000262112,;ARHGEF10,stop_gained,p.Trp674Ter,ENST00000522435,;							HIGH	3165/4110	W1055*	ARHGA_HUMAN			Transcript			.	ENSP00000381571					1	
ATG4B	0	LGGM	GRCh37	2	242594035	242594035	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	14	.	.	ENST00000404914.3:c.358G>A	p.Asp120Asn	p.D120N	ENST00000404914	NM_013325.4	120	Gac/Aac	0	1	1	UPI00001AF16F	0	getma.org/pdb.php?prot=ATG4B_HUMAN&from=36&to=337&var=D120N	ENST00000404914		ENSG00000168397	20790		62	1.285		HGNC	p.D46N		ATG4B		SNV							ENST00000402096	protein_coding	getma.org/?cm=var&var=hg19,2,242594035,G,A&fts=all		Pfam_domain:PF03416,hmmpanther:PTHR22624,hmmpanther:PTHR22624:SF39,Superfamily_domains:SSF54001		D/N		A	low	461/2878		getma.org/?cm=msa&ty=f&p=ATG4B_HUMAN&rb=36&re=337&var=D120N	tolerated(0.13)	F8WD71_HUMAN,C9JVD5_HUMAN,C9J3C0_HUMAN,C9J1C1_HUMAN			YES	ATG4B,missense_variant,p.Asp120Asn,ENST00000405546,;ATG4B,missense_variant,p.Asp120Asn,ENST00000404914,NM_013325.4,NM_178326.2;ATG4B,missense_variant,p.Asp46Asn,ENST00000402096,;ATG4B,missense_variant,p.Asp106Asn,ENST00000474739,;ATG4B,missense_variant,p.Asp46Asn,ENST00000396411,;ATG4B,missense_variant,p.Asp120Asn,ENST00000425239,;ATG4B,missense_variant,p.Asp120Asn,ENST00000400771,;ATG4B,missense_variant,p.Asp46Asn,ENST00000430617,;ATG4B,missense_variant,p.Asp46Asn,ENST00000419606,;ATG4B,missense_variant,p.Asp46Asn,ENST00000429899,;ATG4B,downstream_gene_variant,,ENST00000491867,;ATG4B,3_prime_UTR_variant,,ENST00000344376,;ATG4B,3_prime_UTR_variant,,ENST00000400772,;ATG4B,non_coding_transcript_exon_variant,,ENST00000482507,;ATG4B,non_coding_transcript_exon_variant,,ENST00000494465,;ATG4B,non_coding_transcript_exon_variant,,ENST00000483778,;ATG4B,non_coding_transcript_exon_variant,,ENST00000493618,;ATG4B,non_coding_transcript_exon_variant,,ENST00000475195,;ATG4B,non_coding_transcript_exon_variant,,ENST00000468018,;ATG4B,non_coding_transcript_exon_variant,,ENST00000465399,;ATG4B,non_coding_transcript_exon_variant,,ENST00000479554,;ATG4B,downstream_gene_variant,,ENST00000415107,;							MODERATE	358/1182	D120N	ATG4B_HUMAN			Transcript		benign(0.444)	.	ENSP00000384259		CCDS46564.1			1	
EPHA4	0	LGGM	GRCh37	2	222428549	222428549	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	14	.	.	ENST00000281821.2:c.725T>C	p.Val242Ala	p.V242A	ENST00000281821	NM_004438.3	242	gTg/gCg	0	1	1	UPI000012A077	0	getma.org/pdb.php?prot=EPHA4_HUMAN&from=205&to=329&var=V242A	ENST00000281821		ENSG00000116106	3388		63	0.675		HGNC	p.V242A		EPHA4		SNV							ENST00000409938	protein_coding	getma.org/?cm=var&var=hg19,2,222428549,A,G&fts=all		PIRSF_domain:PIRSF000666,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF25		V/A		G	neutral	767/6346		getma.org/?cm=msa&ty=f&p=EPHA4_HUMAN&rb=205&re=329&var=V242A	tolerated(0.75)	Q584H6_HUMAN,Q53TA0_HUMAN,F5GZZ5_HUMAN,E9PG71_HUMAN,C9JIX8_HUMAN,C9JEM6_HUMAN			YES	EPHA4,missense_variant,p.Val242Ala,ENST00000281821,NM_004438.3;EPHA4,missense_variant,p.Val242Ala,ENST00000409854,;EPHA4,missense_variant,p.Val242Ala,ENST00000409938,;EPHA4,missense_variant,p.Val191Ala,ENST00000392071,;EPHA4,intron_variant,,ENST00000443796,;EPHA4,downstream_gene_variant,,ENST00000434266,;EPHA4,downstream_gene_variant,,ENST00000541600,;EPHA4,downstream_gene_variant,,ENST00000419964,;EPHA4,downstream_gene_variant,,ENST00000415749,;							MODERATE	725/2961	V242A	EPHA4_HUMAN			Transcript		benign(0.001)	.	ENSP00000281821		CCDS2447.1			1	
HAGH	0	LGGM	GRCh37	16	1859353	1859353	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	14	.	.	ENST00000397356.3:c.858G>A	p.Glu286=	p.E286=	ENST00000397356	NM_005326.4	286	gaG/gaA	0	1	1	UPI00001FFAD0	0		ENST00000397356		ENSG00000063854	4805		29			HGNC	p.E42E		HAGH		SNV							ENST00000566644	protein_coding			HAMAP:MF_01374,hmmpanther:PTHR11935,hmmpanther:PTHR11935:SF80,Gene3D:3.60.15.10,TIGRFAM_domain:TIGR03413,PIRSF_domain:PIRSF005457,Superfamily_domains:SSF56281		E		T		1265/1744				H3BV79_HUMAN,H3BQW8_HUMAN,B4DT01_HUMAN			YES	HAGH,synonymous_variant,p.=,ENST00000397356,NM_005326.4;HAGH,synonymous_variant,p.=,ENST00000397353,NM_001040427.1;HAGH,synonymous_variant,p.=,ENST00000564445,;HAGH,synonymous_variant,p.=,ENST00000566644,;HAGH,3_prime_UTR_variant,,ENST00000566709,;HAGH,3_prime_UTR_variant,,ENST00000455446,NM_001286249.1;HAGH,non_coding_transcript_exon_variant,,ENST00000567398,;							LOW	858/927		GLO2_HUMAN			Transcript			.	ENSP00000380514		CCDS10447.2			1	
DNAJC13	0	LGGM	GRCh37	3	132172297	132172297	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	14	.	.	ENST00000260818.6:c.693C>A	p.Ser231=	p.S231=	ENST00000260818	NM_015268.3	231	tcC/tcA	0	1	1	UPI000022C1FD	0		ENST00000260818		ENSG00000138246	30343		66			HGNC	p.S231S		DNAJC13		SNV			1				ENST00000260818	protein_coding					S		A		941/7730							YES	DNAJC13,synonymous_variant,p.=,ENST00000260818,NM_015268.3;DNAJC13,non_coding_transcript_exon_variant,,ENST00000486798,;DNAJC13,upstream_gene_variant,,ENST00000471925,;							LOW	693/6732		DJC13_HUMAN			Transcript			.	ENSP00000260818		CCDS33857.1			1	
MTHFD1L	0	LGGM	GRCh37	6	151413673	151413673	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	22	14	.	.	ENST00000367321.3:c.2918A>C	p.Gln973Pro	p.Q973P	ENST00000367321	NM_001242768.1	973	cAa/cCa	0	1	1	UPI00001CE513	0	NA	ENST00000367321		ENSG00000120254	21055		36	2.675		HGNC	p.Q973P		MTHFD1L		SNV							ENST00000367321	protein_coding	getma.org/?cm=var&var=hg19,6,151413673,A,C&fts=all		HAMAP:MF_01543,hmmpanther:PTHR10025,hmmpanther:PTHR10025:SF14,Pfam_domain:PF01268		Q/P		C	medium	3192/3604		getma.org/?cm=msa&ty=f&p=C1TM_HUMAN&rb=359&re=978&var=Q973P	deleterious(0.01)	Q5JYA8_HUMAN,Q5JYA3_HUMAN,B7ZM99_HUMAN,B2RD24_HUMAN			YES	MTHFD1L,missense_variant,p.Gln973Pro,ENST00000367321,NM_001242768.1,NM_015440.4,NM_001242767.1;RP1-292B18.4,intron_variant,,ENST00000415477,;							MODERATE	2918/2937	Q973P	C1TM_HUMAN			Transcript		possibly_damaging(0.611)	.	ENSP00000356290		CCDS5228.1			1	
USH2A	0	LGGM	GRCh37	1	216591923	216591923	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	14	.	.	ENST00000307340.3:c.584A>G	p.Gln195Arg	p.Q195R	ENST00000307340	NM_206933.2	195	cAa/cGa	0	1	1	UPI000034E5B6	0	NA	ENST00000307340		ENSG00000042781	12601		65	1.845		HGNC	p.Q195R		USH2A		SNV			1				ENST00000366943	protein_coding	getma.org/?cm=var&var=hg19,1,216591923,T,C&fts=all		Superfamily_domains:SSF49899,SMART_domains:SM00560,Gene3D:2.60.120.200,Pfam_domain:PF13385,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF170		Q/R		C	low	971/18883		getma.org/?cm=msa&ty=f&p=USH2A_HUMAN&rb=124&re=286&var=Q195R					YES	USH2A,missense_variant,p.Gln195Arg,ENST00000366943,;USH2A,missense_variant,p.Gln195Arg,ENST00000307340,NM_206933.2;USH2A,missense_variant,p.Gln195Arg,ENST00000366942,NM_007123.5;							MODERATE	584/15609	Q195R	USH2A_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000305941		CCDS31025.1			1	
LEMD3	0	LGGM	GRCh37	12	65632589	65632589	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	14	.	.	ENST00000308330.2:c.1916G>A	p.Cys639Tyr	p.C639Y	ENST00000308330	NM_014319.4	639	tGc/tAc	0	1	1	UPI000012EB75	0	NA	ENST00000308330		ENSG00000174106	28887		53	1.1		HGNC	p.C639Y		LEMD3		SNV			1				ENST00000308330	protein_coding	getma.org/?cm=var&var=hg19,12,65632589,G,A&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR13428:SF9,hmmpanther:PTHR13428,Pfam_domain:PF09402		C/Y		A	low	1942/4764		getma.org/?cm=msa&ty=f&p=MAN1_HUMAN&rb=504&re=751&var=C639Y	tolerated(0.65)	B4DI45_HUMAN			YES	LEMD3,missense_variant,p.Cys639Tyr,ENST00000308330,NM_014319.4,NM_001167614.1;LEMD3,upstream_gene_variant,,ENST00000542032,;LEMD3,upstream_gene_variant,,ENST00000544506,;							MODERATE	1916/2736	C639Y	MAN1_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000308369		CCDS8972.1			1	
C5orf54	0	LGGM	GRCh37	5	159821760	159821760	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	14	.	.	ENST00000408953.3:c.738C>T	p.Ser246=	p.S246=	ENST00000408953	NM_022090.3	246	tcC/tcT	0	1	1	UPI00000741A3	0		ENST00000408953		ENSG00000221886	30804		70			HGNC	p.S246S		C5orf54		SNV							ENST00000408953	protein_coding			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF102,Superfamily_domains:SSF53098		S		A		1246/2851							YES	C5orf54,synonymous_variant,p.=,ENST00000408953,NM_022090.3;C5orf54,synonymous_variant,p.=,ENST00000523213,;							LOW	738/1785		ZBED8_HUMAN			Transcript			.	ENSP00000386184		CCDS34283.1			1	
PHLPP1	0	LGGM	GRCh37	18	60587268	60587268	+	synonymous_variant	Silent	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	14	.	.	ENST00000262719.5:c.2881A>C	p.Arg961=	p.R961=	ENST00000262719		961	Aga/Cga	0	1	1	UPI000051AE2E	0		ENST00000262719		ENSG00000081913	20610		62			HGNC	p.R449R		PHLPP1		SNV							ENST00000400316	protein_coding			Superfamily_domains:SSF52058,SMART_domains:SM00369,Gene3D:3.80.10.10,hmmpanther:PTHR23155:SF252,hmmpanther:PTHR23155,PROSITE_profiles:PS51450		R		C		3115/6390							YES	PHLPP1,synonymous_variant,p.=,ENST00000400316,NM_194449.3;PHLPP1,synonymous_variant,p.=,ENST00000262719,;PHLPP1,synonymous_variant,p.=,ENST00000591386,;PHLPP1,non_coding_transcript_exon_variant,,ENST00000591106,;							LOW	2881/5154		PHLP1_HUMAN			Transcript			.	ENSP00000262719		CCDS45881.2			1	
LRRN4	0	LGGM	GRCh37	20	6031489	6031489	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	14	.	.	ENST00000378858.4:c.796C>T	p.Leu266Phe	p.L266F	ENST00000378858	NM_152611.4	266	Ctt/Ttt	0	1	1	UPI000013CBD3	0	getma.org/pdb.php?prot=LRRN4_HUMAN&from=183&to=375&var=L266F	ENST00000378858		ENSG00000125872	16208		62	2.645		HGNC	p.L266F		LRRN4		SNV							ENST00000378858	protein_coding	getma.org/?cm=var&var=hg19,20,6031489,G,A&fts=all		hmmpanther:PTHR24366,hmmpanther:PTHR24366:SF1,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		L/F		A	medium	1021/2692		getma.org/?cm=msa&ty=f&p=LRRN4_HUMAN&rb=183&re=375&var=L266F	deleterious(0)				YES	LRRN4,missense_variant,p.Leu266Phe,ENST00000378858,NM_152611.4;							MODERATE	796/2223	L266F	LRRN4_HUMAN			Transcript		possibly_damaging(0.907)	.	ENSP00000368135		CCDS13097.1			1	
PTPRK	0	LGGM	GRCh37	6	128324360	128324360	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	14	.	.	ENST00000368213.5:c.2494+1869G>A		*832*	ENST00000368213	NM_001135648.1			0	1		UPI0000148ED1	0		ENST00000368215		ENSG00000152894	9674		59			HGNC	p.V838I		PTPRK		SNV							ENST00000532331	protein_coding							T		-/4651								PTPRK,missense_variant,p.Val838Ile,ENST00000368227,;PTPRK,missense_variant,p.Val838Ile,ENST00000532331,;PTPRK,missense_variant,p.Val838Ile,ENST00000368210,;PTPRK,missense_variant,p.Val848Ile,ENST00000368207,;PTPRK,missense_variant,p.Val119Ile,ENST00000415046,;PTPRK,missense_variant,p.Val81Ile,ENST00000415055,;PTPRK,intron_variant,,ENST00000368226,NM_002844.3;PTPRK,intron_variant,,ENST00000368213,NM_001135648.1;PTPRK,intron_variant,,ENST00000368215,;PTPRK,non_coding_transcript_exon_variant,,ENST00000524481,;PTPRK,3_prime_UTR_variant,,ENST00000531050,;PTPRK,downstream_gene_variant,,ENST00000531466,;							MODIFIER	-/4320		PTPRK_HUMAN			Transcript			.	ENSP00000357198					1	
LCP1	0	LGGM	GRCh37	13	46725171	46725171	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	14	.	.	ENST00000398576.2:c.782T>A	p.Leu261Ter	p.L261*	ENST00000398576		261	tTg/tAg	0	1		UPI0000070B5C	0	NA	ENST00000323076		ENSG00000136167	6528		43	0		HGNC	p.L261X		LCP1		SNV							ENST00000323076	protein_coding	getma.org/?cm=var&var=hg19,13,46725171,A,T&fts=all		Gene3D:1.10.418.10,hmmpanther:PTHR19961,hmmpanther:PTHR19961:SF34,Superfamily_domains:SSF47576		L/*		T	NA	1020/3787		NA		Q5TBN5_HUMAN,Q5TBN3_HUMAN				LCP1,stop_gained,p.Leu261Ter,ENST00000398576,;LCP1,stop_gained,p.Leu261Ter,ENST00000323076,NM_002298.4;LCP1,downstream_gene_variant,,ENST00000416500,;LCP1,non_coding_transcript_exon_variant,,ENST00000469227,;LCP1,non_coding_transcript_exon_variant,,ENST00000494531,;							HIGH	782/1884	L261*	PLSL_HUMAN			Transcript			.	ENSP00000315757		CCDS9403.1			1	
ABCC11	0	LGGM	GRCh37	16	48245024	48245024	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	14	.	.	ENST00000394747.1:c.1443G>A	p.Leu481=	p.L481=	ENST00000394747	NM_033151.3	481	ttG/ttA	0	1		UPI0000052711	0		ENST00000356608		ENSG00000121270	14639		70			HGNC	p.L481L		ABCC11		SNV			1				ENST00000356608	protein_coding			hmmpanther:PTHR24223,hmmpanther:PTHR24223:SF168		L		T		1542/4612				H3BRJ2_HUMAN				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,synonymous_variant,p.=,ENST00000537808,;ABCC11,downstream_gene_variant,,ENST00000565487,;ABCC11,non_coding_transcript_exon_variant,,ENST00000567385,;							LOW	1443/4149		ABCCB_HUMAN			Transcript			.	ENSP00000349017		CCDS10732.1			1	
FAM196B	0	LGGM	GRCh37	5	169309726	169309726	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	14	.	.	ENST00000377365.3:c.1177A>T	p.Asn393Tyr	p.N393Y	ENST00000377365	NM_001129891.1	393	Aac/Tac	0	1	1	UPI0000480500	0	NA	ENST00000377365		ENSG00000204767	37271		73	0.695		HGNC	p.N393Y		FAM196B		SNV							ENST00000377365	protein_coding	getma.org/?cm=var&var=hg19,5,169309726,T,A&fts=all		Pfam_domain:PF15265		N/Y		A	neutral	2559/2999		getma.org/?cm=msa&ty=f&p=F196B_HUMAN&rb=1&re=407&var=N393Y	deleterious(0)				YES	FAM196B,missense_variant,p.Asn393Tyr,ENST00000377365,NM_001129891.1;DOCK2,intron_variant,,ENST00000256935,NM_004946.2;DOCK2,intron_variant,,ENST00000520908,;DOCK2,intron_variant,,ENST00000540750,;DOCK2,intron_variant,,ENST00000519628,;DOCK2,intron_variant,,ENST00000523351,;FAM196B,downstream_gene_variant,,ENST00000523970,;DOCK2,intron_variant,,ENST00000524185,;							MODERATE	1177/1608	N393Y	F196B_HUMAN			Transcript		benign(0.23)	.	ENSP00000366582		CCDS47336.1			1	
TF	0	LGGM	GRCh37	3	133472493	133472493	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	14	.	.	ENST00000402696.3:c.271C>T	p.Leu91=	p.L91=	ENST00000402696	NM_001063.3	91	Ctg/Ttg	0	1	1	UPI000013D5A6	0		ENST00000402696		ENSG00000091513	11740		47			HGNC	p.L47L		TF		SNV			1				ENST00000466911	protein_coding			Superfamily_domains:SSF53850,PIRSF_domain:PIRSF002549,SMART_domains:SM00094,PIRSF_domain:PIRSF500682,Gene3D:3.40.190.10,Pfam_domain:PF00405,hmmpanther:PTHR11485,hmmpanther:PTHR11485:SF23,PROSITE_profiles:PS51408		L		T		756/2968				J3KN47_HUMAN,C9JVG0_HUMAN,C9JB55_HUMAN,B4DEX9_HUMAN			YES	TF,synonymous_variant,p.=,ENST00000402696,NM_001063.3;TF,synonymous_variant,p.=,ENST00000466911,;TF,5_prime_UTR_variant,,ENST00000264998,;TF,5_prime_UTR_variant,,ENST00000482271,;TF,non_coding_transcript_exon_variant,,ENST00000475382,;TFP1,non_coding_transcript_exon_variant,,ENST00000460564,;TF,synonymous_variant,p.=,ENST00000494430,;TF,3_prime_UTR_variant,,ENST00000414694,;TF,non_coding_transcript_exon_variant,,ENST00000493011,;TF,non_coding_transcript_exon_variant,,ENST00000498622,;TF,non_coding_transcript_exon_variant,,ENST00000474287,;TF,non_coding_transcript_exon_variant,,ENST00000460531,;TF,intron_variant,,ENST00000485977,;							LOW	271/2097		TRFE_HUMAN			Transcript			.	ENSP00000385834		CCDS3080.1			1	
BVES	0	LGGM	GRCh37	6	105572476	105572476	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	14	.	.	ENST00000314641.5:c.594T>A	p.Phe198Leu	p.F198L	ENST00000314641	NM_001199563.1	198	ttT/ttA	0	1	1	UPI000006EFF7	0	NA	ENST00000314641		ENSG00000112276	1152		89	2.54		HGNC	p.F198L		BVES		SNV							ENST00000336775	protein_coding	getma.org/?cm=var&var=hg19,6,105572476,A,T&fts=all		Superfamily_domains:SSF51206,Pfam_domain:PF04831,Gene3D:2.60.120.10,hmmpanther:PTHR12101:SF17,hmmpanther:PTHR12101		F/L		T	medium	811/5567		getma.org/?cm=msa&ty=f&p=POPD1_HUMAN&rb=123&re=276&var=F198L	deleterious(0.02)				YES	BVES,missense_variant,p.Phe198Leu,ENST00000314641,NM_001199563.1;BVES,missense_variant,p.Phe198Leu,ENST00000336775,NM_007073.4;BVES,missense_variant,p.Phe198Leu,ENST00000446408,NM_147147.3;							MODERATE	594/1083	F198L	POPD1_HUMAN			Transcript		benign(0.248)	.	ENSP00000313172		CCDS5051.1			1	
CLCA4	0	LGGM	GRCh37	1	87025717	87025717	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	14	.	.	ENST00000370563.3:c.262C>T	p.Pro88Ser	p.P88S	ENST00000370563	NM_012128.3	88	Cct/Tct	0	1	1	UPI00000389E8	0	NA	ENST00000370563		ENSG00000016602	2018		76	0.13		HGNC	p.P88S		CLCA4		SNV			1				ENST00000370563	protein_coding	getma.org/?cm=var&var=hg19,1,87025717,C,T&fts=all		hmmpanther:PTHR10579,hmmpanther:PTHR10579:SF2,Pfam_domain:PF08434,TIGRFAM_domain:TIGR00868		P/S		T	neutral	304/3211		getma.org/?cm=msa&ty=f&p=CLCA4_HUMAN&rb=1&re=262&var=P88S	tolerated(0.44)	Q9NXP1_HUMAN			YES	CLCA4,missense_variant,p.Pro88Ser,ENST00000370563,NM_012128.3;CLCA4,5_prime_UTR_variant,,ENST00000263723,;							MODERATE	262/2760	P88S	CLCA4_HUMAN			Transcript		benign(0.021)	.	ENSP00000359594		CCDS41355.1			1	
ADCY8	0	LGGM	GRCh37	8	131897003	131897003	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	72	14	.	.	ENST00000286355.5:c.1916T>C	p.Leu639Pro	p.L639P	ENST00000286355	NM_001115.2	639	cTg/cCg	0	1	1	UPI000012887C	0	NA	ENST00000286355		ENSG00000155897	239		86	1.32		HGNC	p.L639P		ADCY8		SNV							ENST00000377928	protein_coding	getma.org/?cm=var&var=hg19,8,131897003,A,G&fts=all		Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229		L/P		G	low	4009/5938		getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=617&re=712&var=L639P	deleterious(0.01)	E5RFR2_HUMAN			YES	ADCY8,missense_variant,p.Leu639Pro,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Leu639Pro,ENST00000377928,;							MODERATE	1916/3756	L639P	ADCY8_HUMAN			Transcript		probably_damaging(0.942)	.	ENSP00000286355		CCDS6363.1			1	
KAT6A	0	LGGM	GRCh37	8	41814782	41814782	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	14	.	.	ENST00000396930.3:c.1483-1853G>A		*495*	ENST00000396930	NM_001099412.1			0	1		UPI000013D666	0		ENST00000265713		ENSG00000083168	13013		61			HGNC	p.A3T		KAT6A		SNV			1				ENST00000418721	protein_coding							T		-/9153				A5PKX7_HUMAN				KAT6A,missense_variant,p.Ala3Thr,ENST00000418721,;KAT6A,intron_variant,,ENST00000396930,NM_001099412.1;KAT6A,intron_variant,,ENST00000406337,NM_001099413.1;KAT6A,intron_variant,,ENST00000265713,NM_006766.3;KAT6A,intron_variant,,ENST00000485568,;AC090571.1,downstream_gene_variant,,ENST00000544355,;							MODIFIER	-/6015		KAT6A_HUMAN			Transcript			.	ENSP00000265713		CCDS6124.1			1	
C2CD3	0	LGGM	GRCh37	11	73768485	73768485	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	78	14	.	.	ENST00000313663.7:c.5056G>A	p.Asp1686Asn	p.D1686N	ENST00000313663	NM_015531.4	1686	Gat/Aat	0	1		UPI0001AE6C29	0	NA	ENST00000334126		ENSG00000168014	24564		92	1.61		HGNC	p.D1686N		C2CD3		SNV			1				ENST00000334126	protein_coding	getma.org/?cm=var&var=hg19,11,73768485,C,T&fts=all		Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR21254,hmmpanther:PTHR21254:SF1,SMART_domains:SM00239,Superfamily_domains:SSF49562		D/N		T	low	5283/7289		getma.org/?cm=msa&ty=f&p=C2CD3_HUMAN&rb=1637&re=1728&var=D1686N	deleterious(0.01)					C2CD3,missense_variant,p.Asp1686Asn,ENST00000334126,NM_001286577.1;C2CD3,missense_variant,p.Asp1686Asn,ENST00000313663,NM_015531.4;C2CD3,missense_variant,p.Asp494Asn,ENST00000414160,;C2CD3,non_coding_transcript_exon_variant,,ENST00000542484,;C2CD3,missense_variant,p.Asp442Asn,ENST00000442398,;							MODERATE	5056/7062	D1686N	C2CD3_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000334379		CCDS66167.1			1	
HIPK2	0	LGGM	GRCh37	7	139285281	139285281	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	14	.	.	ENST00000406875.3:c.2317G>T	p.Gly773Cys	p.G773C	ENST00000406875	NM_022740.4	773	Ggt/Tgt	0	1	1	UPI000012C71E	0		ENST00000406875		ENSG00000064393	14402		50			HGNC	p.G746C		HIPK2		SNV							ENST00000428878	protein_coding					G/C		A		2412/15049			deleterious(0.04)	A4D1R9_HUMAN			YES	HIPK2,missense_variant,p.Gly773Cys,ENST00000406875,NM_022740.4;HIPK2,missense_variant,p.Gly746Cys,ENST00000428878,;HIPK2,missense_variant,p.Gly773Cys,ENST00000342645,;							MODERATE	2317/3597		HIPK2_HUMAN			Transcript		possibly_damaging(0.547)	.	ENSP00000385571					1	
MCM3AP	0	LGGM	GRCh37	21	47662719	47662719	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	14	.	.	ENST00000397708.1:c.5423G>A	p.Gly1808Glu	p.G1808E	ENST00000397708		1808	gGa/gAa	0	1		UPI000012ED4A	0	NA	ENST00000291688		ENSG00000160294	6946		54	0.55		HGNC	p.G1808E		MCM3AP		SNV							ENST00000397708	protein_coding	getma.org/?cm=var&var=hg19,21,47662719,C,T&fts=all		hmmpanther:PTHR12436,hmmpanther:PTHR12436:SF18		G/E		T	neutral	5459/6113		getma.org/?cm=msa&ty=f&p=MCM3A_HUMAN&rb=1711&re=1910&var=G1808E	tolerated(0.57)	N0GVG8_HUMAN,B3KWZ4_HUMAN				MCM3AP,missense_variant,p.Gly1808Glu,ENST00000397708,;MCM3AP,missense_variant,p.Gly1808Glu,ENST00000291688,NM_003906.3;MCM3AP-AS1,non_coding_transcript_exon_variant,,ENST00000432735,;MCM3AP-AS1,non_coding_transcript_exon_variant,,ENST00000421927,;MCM3AP-AS1,non_coding_transcript_exon_variant,,ENST00000444998,;MCM3AP-AS1,intron_variant,,ENST00000414659,;MCM3AP-AS1,intron_variant,,ENST00000455567,;MCM3AP-AS1,intron_variant,,ENST00000590829,;MCM3AP-AS1,intron_variant,,ENST00000588753,;MCM3AP-AS1,intron_variant,,ENST00000591223,;AP001469.7,upstream_gene_variant,,ENST00000444966,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000467026,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000486937,;MCM3AP,non_coding_transcript_exon_variant,,ENST00000496607,;							MODERATE	5423/5943	G1808E	GANP_HUMAN			Transcript		benign(0.006)	.	ENSP00000291688		CCDS13734.1			1	
RYR2	0	LGGM	GRCh37	1	237659900	237659900	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	14	.	.	ENST00000366574.2:c.2051C>T	p.Pro684Leu	p.P684L	ENST00000366574	NM_001035.2	684	cCc/cTc	0	1	1	UPI0000DD0308	0	NA	ENST00000366574		ENSG00000198626	10484		95	1.89		HGNC	p.P684L		RYR2		SNV			1				ENST00000366574	protein_coding	getma.org/?cm=var&var=hg19,1,237659900,C,T&fts=all		Pfam_domain:PF00622,PROSITE_profiles:PS50188,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75,SMART_domains:SM00449,Superfamily_domains:SSF49899		P/L		T	low	2368/16562		getma.org/?cm=msa&ty=f&p=RYR2_HUMAN&rb=670&re=808&var=P684L		H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,missense_variant,p.Pro684Leu,ENST00000366574,NM_001035.2;RYR2,missense_variant,p.Pro668Leu,ENST00000542537,;RYR2,missense_variant,p.Pro682Leu,ENST00000360064,;							MODERATE	2051/14904	P684L	RYR2_HUMAN			Transcript		possibly_damaging(0.829)	.	ENSP00000355533		CCDS55691.1			1	
GSTA2	0	LGGM	GRCh37	6	52616452	52616452	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	14	.	.	ENST00000493422.1:c.469G>A	p.Asp157Asn	p.D157N	ENST00000493422	NM_000846.4	157	Gac/Aac	0	1	1	UPI0000072E13	0	getma.org/pdb.php?prot=GSTA2_HUMAN&from=99&to=192&var=D157N	ENST00000493422		ENSG00000244067	4627		89	3.875		HGNC	p.D157N		GSTA2		SNV							ENST00000493422	protein_coding	getma.org/?cm=var&var=hg19,6,52616452,C,T&fts=all		PROSITE_profiles:PS50405,hmmpanther:PTHR11571:SF115,hmmpanther:PTHR11571,Pfam_domain:PF00043,Gene3D:1.20.1050.10,Superfamily_domains:SSF47616		D/N		T	high	625/1303		getma.org/?cm=msa&ty=f&p=GSTA2_HUMAN&rb=99&re=192&var=D157N	deleterious(0.02)				YES	GSTA2,missense_variant,p.Asp157Asn,ENST00000493422,NM_000846.4;							MODERATE	469/669	D157N	GSTA2_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000420168		CCDS4944.1			1	
KRT76	0	LGGM	GRCh37	12	53167381	53167381	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	14	.	.	ENST00000332411.2:c.861T>A	p.Phe287Leu	p.F287L	ENST00000332411	NM_015848.4	287	ttT/ttA	0	1	1	UPI000019B3C1	0	getma.org/pdb.php?prot=K22O_HUMAN&from=182&to=495&var=F287L	ENST00000332411		ENSG00000185069	24430		46	1.65		HGNC	p.F287L		KRT76		SNV							ENST00000332411	protein_coding	getma.org/?cm=var&var=hg19,12,53167381,A,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF88,Pfam_domain:PF00038,Superfamily_domains:SSF64593,Prints_domain:PR01276		F/L		T	low	915/2529		getma.org/?cm=msa&ty=f&p=K22O_HUMAN&rb=182&re=495&var=F287L	deleterious(0)				YES	KRT76,missense_variant,p.Phe287Leu,ENST00000332411,NM_015848.4;							MODERATE	861/1917	F287L	K22O_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000330101		CCDS8838.1			1	
DDI1	0	LGGM	GRCh37	11	103908431	103908431	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	14	.	.	ENST00000302259.3:c.881G>A	p.Gly294Asp	p.G294D	ENST00000302259	NM_001001711.2	294	gGc/gAc	0	1	1	UPI0000047AEA	0	getma.org/pdb.php?prot=DDI1_HUMAN&from=220&to=343&var=G294D	ENST00000302259		ENSG00000170967	18961		59	3.115		HGNC	p.G294D		DDI1		SNV							ENST00000302259	protein_coding	getma.org/?cm=var&var=hg19,11,103908431,G,A&fts=all		Gene3D:2.40.70.10,Pfam_domain:PF09668,hmmpanther:PTHR12917,hmmpanther:PTHR12917:SF15,Superfamily_domains:SSF50630		G/D		A	medium	1124/2615		getma.org/?cm=msa&ty=f&p=DDI1_HUMAN&rb=220&re=343&var=G294D	deleterious(0)				YES	DDI1,missense_variant,p.Gly294Asp,ENST00000302259,NM_001001711.2;PDGFD,intron_variant,,ENST00000302251,NM_025208.4,NM_033135.3;PDGFD,intron_variant,,ENST00000393158,;PDGFD,upstream_gene_variant,,ENST00000529268,;							MODERATE	881/1191	G294D	DDI1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000302805		CCDS31660.1			1	
DHDH	0	LGGM	GRCh37	19	49442841	49442841	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	14	.	.	ENST00000221403.2:c.502G>A	p.Ala168Thr	p.A168T	ENST00000221403	NM_014475.3	168	Gcc/Acc	0	1	1	UPI000006DD01	0	getma.org/pdb.php?prot=DHDH_HUMAN&from=124&to=323&var=A168T	ENST00000221403		ENSG00000104808	17887		48	1.62		HGNC	p.A168T		DHDH		SNV							ENST00000221403	protein_coding	getma.org/?cm=var&var=hg19,19,49442841,G,A&fts=all		hmmpanther:PTHR22604:SF96,hmmpanther:PTHR22604,Gene3D:3.30.360.10,Superfamily_domains:SSF55347		A/T		A	low	542/1081		getma.org/?cm=msa&ty=f&p=DHDH_HUMAN&rb=124&re=323&var=A168T	tolerated(0.18)				YES	DHDH,missense_variant,p.Ala168Thr,ENST00000221403,NM_014475.3;DHDH,missense_variant,p.Ala168Thr,ENST00000522614,;DHDH,intron_variant,,ENST00000523250,;DHDH,missense_variant,p.Gly101Asp,ENST00000520557,;							MODERATE	502/1005	A168T	DHDH_HUMAN			Transcript		benign(0.001)	.	ENSP00000221403		CCDS12741.1			1	
NDST3	0	LGGM	GRCh37	4	118975255	118975255	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	14	.	.	ENST00000296499.5:c.190G>A	p.Glu64Lys	p.E64K	ENST00000296499	NM_004784.2	64	Gaa/Aaa	0	1	1	UPI0000071C44	0	NA	ENST00000296499		ENSG00000164100	7682		70	1.95		HGNC	p.E64K		NDST3		SNV							ENST00000296499	protein_coding	getma.org/?cm=var&var=hg19,4,118975255,G,A&fts=all		Pfam_domain:PF12062,hmmpanther:PTHR10605,hmmpanther:PTHR10605:SF15		E/K		A	medium	593/5961		getma.org/?cm=msa&ty=f&p=NDST3_HUMAN&rb=19&re=506&var=E64K	tolerated_low_confidence(0.28)				YES	NDST3,missense_variant,p.Glu64Lys,ENST00000296499,NM_004784.2;NDST3,missense_variant,p.Glu64Lys,ENST00000433996,;NDST3,non_coding_transcript_exon_variant,,ENST00000394488,;							MODERATE	190/2622	E64K	NDST3_HUMAN			Transcript		benign(0.082)	.	ENSP00000296499		CCDS3708.1			1	
LL22NC03-63E9.3	0	LGGM	GRCh37	22	22906107	22906107	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	14	.	.	ENST00000407120.1:c.186G>A	p.Gln62=	p.Q62=	ENST00000407120		62	caG/caA	0	1	1	UPI00006C1B79	0		ENST00000407120		ENSG00000220891			59			Clone_based_vega_gene	p.Q62Q		LL22NC03-63E9.3		SNV							ENST00000407120	protein_coding					Q		A		211/3111				B5MCX5_HUMAN			YES	LL22NC03-63E9.3,synonymous_variant,p.=,ENST00000407120,;PRAME,upstream_gene_variant,,ENST00000543184,NM_206953.1;PRAME,upstream_gene_variant,,ENST00000398741,NM_206955.1;PRAME,upstream_gene_variant,,ENST00000398743,;PRAME,upstream_gene_variant,,ENST00000405655,NM_206956.1;PRAME,upstream_gene_variant,,ENST00000402697,NM_206954.1,NM_006115.3;PRAME,upstream_gene_variant,,ENST00000439106,;PRAME,upstream_gene_variant,,ENST00000406503,;PRAME,upstream_gene_variant,,ENST00000420709,;PRAME,upstream_gene_variant,,ENST00000492657,;							LOW	186/300					Transcript			.	ENSP00000383978					1	
AMPH	0	LGGM	GRCh37	7	38516496	38516496	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	14	.	.	ENST00000356264.2:c.470G>A	p.Ser157Asn	p.S157N	ENST00000356264	NM_001635.3	157	aGc/aAc	0	1	1	UPI00001259EA	0	getma.org/pdb.php?prot=AMPH_HUMAN&from=13&to=233&var=S157N	ENST00000356264		ENSG00000078053	471		33	-0.695		HGNC	p.S157N	rs758879636	AMPH		SNV							ENST00000325590	protein_coding	getma.org/?cm=var&var=hg19,7,38516496,C,T&fts=all		Gene3D:1.20.1270.60,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF03114,PROSITE_profiles:PS51021,hmmpanther:PTHR10321,hmmpanther:PTHR10321:SF23,SMART_domains:SM00721,Superfamily_domains:SSF103657		S/N		T	neutral	686/3418	1.50E-05	getma.org/?cm=msa&ty=f&p=AMPH_HUMAN&rb=13&re=233&var=S157N	tolerated(0.18)	Q9UQI5_HUMAN,Q9UQI4_HUMAN,Q9UQI3_HUMAN,Q9UQI2_HUMAN			YES	AMPH,missense_variant,p.Ser157Asn,ENST00000356264,NM_001635.3;AMPH,missense_variant,p.Ser157Asn,ENST00000325590,NM_139316.2;AMPH,missense_variant,p.Ser157Asn,ENST00000428293,;							MODERATE	470/2088	S157N	AMPH_HUMAN			Transcript		benign(0.12)	.	ENSP00000348602	8.24E-06	CCDS5456.1			1	
PPFIA2	0	LGGM	GRCh37	12	81741551	81741551	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	15	.	.	ENST00000549396.1:c.1995-2A>T		p.X665_splice	ENST00000549396	NM_003625.3			0	1	1	UPI0000168655	0		ENST00000549396		ENSG00000139220	9246		58			HGNC	-		PPFIA2		SNV							ENST00000549396	protein_coding							A		-/5363				H0YHK3_HUMAN,F8W1Y8_HUMAN,F8VU88_HUMAN			YES	PPFIA2,splice_acceptor_variant,,ENST00000550584,NM_001220473.1;PPFIA2,splice_acceptor_variant,,ENST00000549396,NM_003625.3,NM_001220476.1,NM_001282536.1;PPFIA2,splice_acceptor_variant,,ENST00000549325,NM_001220474.1;PPFIA2,splice_acceptor_variant,,ENST00000548586,;PPFIA2,splice_acceptor_variant,,ENST00000552948,NM_001220475.1;PPFIA2,splice_acceptor_variant,,ENST00000407050,NM_001220477.1;PPFIA2,splice_acceptor_variant,,ENST00000550359,;PPFIA2,splice_acceptor_variant,,ENST00000443686,NM_001220478.1;PPFIA2,splice_acceptor_variant,,ENST00000333447,;PPFIA2,splice_acceptor_variant,,ENST00000541570,NM_001220479.1;PPFIA2,splice_acceptor_variant,,ENST00000541017,NM_001220480.1;PPFIA2,splice_acceptor_variant,,ENST00000553058,;PPFIA2,splice_acceptor_variant,,ENST00000549917,;PPFIA2,intron_variant,,ENST00000545296,;PPFIA2,splice_acceptor_variant,,ENST00000551461,;PPFIA2,upstream_gene_variant,,ENST00000549344,;							HIGH	1995/3774		LIPA2_HUMAN			Transcript			.	ENSP00000450337		CCDS55857.1			1	
DBN1	0	LGGM	GRCh37	5	176895197	176895197	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	78	15	.	.	ENST00000292385.5:c.173G>A	p.Gly58Glu	p.G58E	ENST00000292385	NM_080881.2	58	gGa/gAa	0	1		UPI0000457394	0	getma.org/pdb.php?prot=DREB_HUMAN&from=11&to=134&var=G56E	ENST00000309007		ENSG00000113758	2695		93	-0.66		HGNC	p.G55E		DBN1		SNV							ENST00000477391	protein_coding	getma.org/?cm=var&var=hg19,5,176895197,C,T&fts=all		Gene3D:3.40.20.10,Pfam_domain:PF00241,PROSITE_profiles:PS51263,hmmpanther:PTHR10829,hmmpanther:PTHR10829:SF1,SMART_domains:SM00102,Superfamily_domains:SSF55753		G/E		T	neutral	387/2995		getma.org/?cm=msa&ty=f&p=DREB_HUMAN&rb=11&re=134&var=G56E	tolerated(1)	F8W9Z3_HUMAN,D6RFI1_HUMAN,D6RCR4_HUMAN				DBN1,missense_variant,p.Gly58Glu,ENST00000292385,NM_080881.2;DBN1,missense_variant,p.Gly56Glu,ENST00000309007,NM_004395.3;DBN1,missense_variant,p.Gly56Glu,ENST00000393565,;DBN1,missense_variant,p.Gly55Glu,ENST00000477391,;DBN1,missense_variant,p.Gly56Glu,ENST00000514833,;DBN1,5_prime_UTR_variant,,ENST00000506117,;DBN1,non_coding_transcript_exon_variant,,ENST00000472831,;DBN1,downstream_gene_variant,,ENST00000505550,;DBN1,upstream_gene_variant,,ENST00000471767,;							MODERATE	167/1950	G56E	DREB_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000308532		CCDS4420.1			1	
CRB1	0	LGGM	GRCh37	1	197390173	197390173	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	15	.	.	ENST00000367400.3:c.1215T>A	p.Pro405=	p.P405=	ENST00000367400	NM_201253.2	405	ccT/ccA	0	1	1	UPI0000073345	0		ENST00000367400		ENSG00000134376	2343		88			HGNC	p.P293P	rs771963223	CRB1		SNV			1				ENST00000367399	protein_coding			Gene3D:2gy5A03,Pfam_domain:PF00008,PROSITE_patterns:PS01187,PROSITE_profiles:PS50026,hmmpanther:PTHR24049,SMART_domains:SM00179,SMART_domains:SM00181,Superfamily_domains:SSF57184		P		A		1350/4932				B7Z824_HUMAN			YES	CRB1,synonymous_variant,p.=,ENST00000367400,NM_201253.2;CRB1,synonymous_variant,p.=,ENST00000535699,NM_001257965.1;CRB1,synonymous_variant,p.=,ENST00000367399,NM_001193640.1;CRB1,synonymous_variant,p.=,ENST00000538660,NM_001257966.1;CRB1,synonymous_variant,p.=,ENST00000543483,;CRB1,5_prime_UTR_variant,,ENST00000367397,;CRB1,5_prime_UTR_variant,,ENST00000544212,;CRB1,non_coding_transcript_exon_variant,,ENST00000476483,;CRB1,upstream_gene_variant,,ENST00000480086,;CRB1,synonymous_variant,p.=,ENST00000484075,;	0.000116						LOW	1215/4221		CRUM1_HUMAN			Transcript			.	ENSP00000356370	8.24E-06	CCDS1390.1			1	
NBAS	0	LGGM	GRCh37	2	15519919	15519919	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	15	.	.	ENST00000281513.5:c.3397G>A	p.Glu1133Lys	p.E1133K	ENST00000281513	NM_015909.3	1133	Gaa/Aaa	0	1	1	UPI00001AEA68	0	NA	ENST00000281513		ENSG00000151779	15625		71	1.995		HGNC	p.E1013K		NBAS		SNV			1				ENST00000441750	protein_coding	getma.org/?cm=var&var=hg19,2,15519919,C,T&fts=all		Pfam_domain:PF08314,hmmpanther:PTHR15922,hmmpanther:PTHR15922:SF2		E/K		T	medium	3423/7281		getma.org/?cm=msa&ty=f&p=NBAS_HUMAN&rb=725&re=1379&var=E1133K	tolerated(0.13)	Q4ZG05_HUMAN,H7C007_HUMAN			YES	NBAS,missense_variant,p.Glu1133Lys,ENST00000281513,NM_015909.3;NBAS,missense_variant,p.Glu1013Lys,ENST00000441750,;NBAS,missense_variant,p.Glu181Lys,ENST00000442506,;NBAS,missense_variant,p.Glu180Lys,ENST00000441755,;							MODERATE	3397/7116	E1133K	NBAS_HUMAN			Transcript		benign(0.072)	.	ENSP00000281513		CCDS1685.1			1	
SLC22A24	0	LGGM	GRCh37	11	62902164	62902164	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	15	.	.	ENST00000417740.1:c.479G>A	p.Gly160Asp	p.G160D	ENST00000417740	NM_001136506.2	160	gGt/gAt	0	1		UPI0000141874	0	NA	ENST00000326192		ENSG00000197658	28542		62	3.3		HGNC	p.G160D		SLC22A24		SNV							ENST00000417740	protein_coding	getma.org/?cm=var&var=hg19,11,62902164,C,T&fts=all		Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR24064,hmmpanther:PTHR24064:SF208,Superfamily_domains:SSF103473		G/D		T	medium	921/1663		getma.org/?cm=msa&ty=f&p=S22AO_HUMAN&rb=99&re=312&var=G160D	deleterious(0.01)					SLC22A24,missense_variant,p.Gly160Asp,ENST00000417740,NM_001136506.2;SLC22A24,missense_variant,p.Gly160Asp,ENST00000326192,;SLC22A10,upstream_gene_variant,,ENST00000525620,;							MODERATE	479/969	G160D	S22AO_HUMAN			Transcript		possibly_damaging(0.706)	.	ENSP00000321549					1	
PDE1A	0	LGGM	GRCh37	2	183095856	183095856	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	15	.	.	ENST00000435564.1:c.468T>A	p.Asp156Glu	p.D156E	ENST00000435564	NM_001258312.1	156	gaT/gaA	0	1		UPI000003B33F	0	getma.org/pdb.php?prot=PDE1A_HUMAN&from=134&to=217&var=D156E	ENST00000410103		ENSG00000115252	8774		70	1.505		HGNC	p.D156E		PDE1A		SNV							ENST00000358139	protein_coding	getma.org/?cm=var&var=hg19,2,183095856,A,T&fts=all		Superfamily_domains:SSF109604,Gene3D:1.10.1300.10,hmmpanther:PTHR11347,hmmpanther:PTHR11347:SF34		D/E		T	low	552/2000		getma.org/?cm=msa&ty=f&p=PDE1A_HUMAN&rb=134&re=217&var=D156E	tolerated(0.49)	Q9Y246_HUMAN,Q9UNL9_HUMAN,Q53TB0_HUMAN,Q53T15_HUMAN				PDE1A,missense_variant,p.Asp156Glu,ENST00000435564,NM_001258312.1,NM_005019.4;PDE1A,missense_variant,p.Asp140Glu,ENST00000351439,NM_001258313.1;PDE1A,missense_variant,p.Asp52Glu,ENST00000536095,;PDE1A,missense_variant,p.Asp140Glu,ENST00000409365,;PDE1A,missense_variant,p.Asp156Glu,ENST00000410103,NM_001003683.2;PDE1A,missense_variant,p.Asp122Glu,ENST00000346717,;PDE1A,missense_variant,p.Asp156Glu,ENST00000456212,;PDE1A,missense_variant,p.Asp156Glu,ENST00000331935,;PDE1A,missense_variant,p.Asp156Glu,ENST00000358139,;PDE1A,splice_region_variant,,ENST00000482538,;PDE1A,splice_region_variant,,ENST00000462938,;PDE1A,downstream_gene_variant,,ENST00000495511,;PDE1A,downstream_gene_variant,,ENST00000482782,;							MODERATE	468/1608	D156E	PDE1A_HUMAN			Transcript		benign(0.012)	.	ENSP00000387037		CCDS33344.1			1	
BRINP2	0	LGGM	GRCh37	1	177199198	177199198	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	15	.	.	ENST00000361539.4:c.186G>A	p.Arg62=	p.R62=	ENST00000361539	NM_021165.2	62	cgG/cgA	0	1	1	UPI000006DF55	0		ENST00000361539		ENSG00000198797	13746		50			HGNC	p.R62R	rs774464143	BRINP2		SNV							ENST00000361539	protein_coding			hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF5		R		A		498/3558	1.54E-05						YES	BRINP2,synonymous_variant,p.=,ENST00000361539,NM_021165.2;							LOW	186/2352		BRNP2_HUMAN			Transcript			.	ENSP00000354481	8.24E-06	CCDS1320.1			1	
TMBIM6	0	LGGM	GRCh37	12	50153086	50153086	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	15	.	.	ENST00000423828.1:c.770G>A	p.Gly257Glu	p.G257E	ENST00000423828	NM_001098576.1	257	gGa/gAa	0	1		UPI0000001C52	0	NA	ENST00000267115		ENSG00000139644	11723		64	3.345		HGNC	p.G199E		TMBIM6		SNV							ENST00000542631	protein_coding	getma.org/?cm=var&var=hg19,12,50153086,G,A&fts=all		hmmpanther:PTHR23291:SF4,hmmpanther:PTHR23291,Pfam_domain:PF01027		G/E		A	medium	681/2833		getma.org/?cm=msa&ty=f&p=BI1_HUMAN&rb=24&re=226&var=G199E	deleterious(0)	F8W201_HUMAN,F8W1V3_HUMAN,F8W086_HUMAN,F8VX73_HUMAN,F8VVJ4_HUMAN,F8VSI7_HUMAN,F8VQW0_HUMAN,F8VQQ5_HUMAN,F8VPZ7_HUMAN,F8VPI1_HUMAN				TMBIM6,missense_variant,p.Gly257Glu,ENST00000423828,NM_001098576.1;TMBIM6,missense_variant,p.Gly257Glu,ENST00000552699,;TMBIM6,missense_variant,p.Gly199Glu,ENST00000267115,NM_003217.2;TMBIM6,missense_variant,p.Gly199Glu,ENST00000549385,;TMBIM6,missense_variant,p.Gly199Glu,ENST00000395006,;TMBIM6,missense_variant,p.Gly162Glu,ENST00000547798,;TMBIM6,missense_variant,p.Gly199Glu,ENST00000552370,;TMBIM6,downstream_gene_variant,,ENST00000550445,;TMBIM6,downstream_gene_variant,,ENST00000549445,;TMBIM6,downstream_gene_variant,,ENST00000547187,;TMBIM6,downstream_gene_variant,,ENST00000547832,;TMBIM6,downstream_gene_variant,,ENST00000548201,;TMBIM6,downstream_gene_variant,,ENST00000546796,;TMBIM6,downstream_gene_variant,,ENST00000549966,;TMBIM6,downstream_gene_variant,,ENST00000546914,;TMBIM6,downstream_gene_variant,,ENST00000549130,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000550040,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000549471,;TMBIM6,non_coding_transcript_exon_variant,,ENST00000547013,;TMBIM6,downstream_gene_variant,,ENST00000552635,;TMBIM6,downstream_gene_variant,,ENST00000553022,;							MODERATE	596/714	G199E	BI1_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000267115		CCDS31797.1			1	
KTN1	0	LGGM	GRCh37	14	56078979	56078979	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	15	.	.	ENST00000395314.3:c.213C>T	p.Asn71=	p.N71=	ENST00000395314	NM_001079521.1	71	aaC/aaT	0	1	1	UPI0000190F88	0		ENST00000395314		ENSG00000126777	6467		44			HGNC	p.N71N		KTN1		SNV							ENST00000395314	protein_coding			hmmpanther:PTHR18864		N		T		281/4618				Q5GGW3_HUMAN,G3V5P0_HUMAN,G3V4L8_HUMAN,G3V475_HUMAN			YES	KTN1,synonymous_variant,p.=,ENST00000416613,;KTN1,synonymous_variant,p.=,ENST00000395314,NM_001079521.1;KTN1,synonymous_variant,p.=,ENST00000413890,NM_001079522.1,NM_001271014.1;KTN1,synonymous_variant,p.=,ENST00000395311,;KTN1,synonymous_variant,p.=,ENST00000438792,NM_004986.3;KTN1,synonymous_variant,p.=,ENST00000395309,;KTN1,synonymous_variant,p.=,ENST00000395308,;KTN1,synonymous_variant,p.=,ENST00000555498,;KTN1,intron_variant,,ENST00000554567,;KTN1,downstream_gene_variant,,ENST00000557267,;KTN1,synonymous_variant,p.=,ENST00000459737,;							LOW	213/4074		KTN1_HUMAN			Transcript			.	ENSP00000378725		CCDS41957.1			1	
OXCT1	0	LGGM	GRCh37	5	41862839	41862839	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	15	.	.	ENST00000196371.5:c.92C>A	p.Ser31Tyr	p.S31Y	ENST00000196371	NM_000436.3	31	tCc/tAc	0	1	1	UPI0000000C9A	0	NA	ENST00000196371		ENSG00000083720	8527		51	0		HGNC	p.S31Y		OXCT1		SNV			1				ENST00000196371	protein_coding	getma.org/?cm=var&var=hg19,5,41862839,G,T&fts=all		hmmpanther:PTHR13707,hmmpanther:PTHR13707:SF30,PIRSF_domain:PIRSF000858		S/Y		T	neutral	253/3388		getma.org/?cm=msa&ty=f&p=SCOT1_HUMAN&rb=1&re=42&var=S31Y	tolerated(1)	B7Z528_HUMAN,A1E286_HUMAN			YES	OXCT1,missense_variant,p.Ser31Tyr,ENST00000196371,NM_000436.3;							MODERATE	92/1563	S31Y	SCOT1_HUMAN			Transcript		benign(0.001)	.	ENSP00000196371		CCDS3937.1			1	
VSIG8	0	LGGM	GRCh37	1	159826314	159826314	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	15	.	.	ENST00000368100.1:c.772G>A	p.Asp258Asn	p.D258N	ENST00000368100	NM_001013661.1	258	Gac/Aac	0	1	1	UPI0000458A8F	0	NA	ENST00000368100		ENSG00000243284	32063	8.64E-05	71	1.78		HGNC	p.D258N	rs759059021	VSIG8		SNV							ENST00000368100	protein_coding	getma.org/?cm=var&var=hg19,1,159826314,C,T&fts=all		Gene3D:2.60.40.10,hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF75		D/N		T	low	908/1818		getma.org/?cm=msa&ty=f&p=VSIG8_HUMAN&rb=257&re=414&var=D258N	tolerated(0.53)				YES	VSIG8,missense_variant,p.Asp258Asn,ENST00000368100,NM_001013661.1;C1orf204,upstream_gene_variant,,ENST00000368102,NM_001134233.1;SNORD64,upstream_gene_variant,,ENST00000390859,;C1orf204,upstream_gene_variant,,ENST00000491974,;RP11-190A12.7,downstream_gene_variant,,ENST00000537167,;RP11-190A12.7,downstream_gene_variant,,ENST00000536764,;RP11-190A12.7,downstream_gene_variant,,ENST00000543372,;RP11-190A12.7,downstream_gene_variant,,ENST00000544342,;RP11-190A12.7,downstream_gene_variant,,ENST00000536779,;							MODERATE	772/1245	D258N	VSIG8_HUMAN			Transcript		benign(0.253)	.	ENSP00000357080	8.24E-06	CCDS30913.1			1	
PPP2R3A	0	LGGM	GRCh37	3	135722126	135722126	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	15	.	.	ENST00000264977.3:c.1786G>A	p.Glu596Lys	p.E596K	ENST00000264977	NM_001190447.1	596	Gaa/Aaa	0	1	1	UPI0000124EAC	0	NA	ENST00000264977		ENSG00000073711	9307		60	1.32		HGNC	p.E596K		PPP2R3A		SNV							ENST00000264977	protein_coding	getma.org/?cm=var&var=hg19,3,135722126,G,A&fts=all		hmmpanther:PTHR14095,hmmpanther:PTHR14095:SF3		E/K		A	low	2403/6795		getma.org/?cm=msa&ty=f&p=P2R3A_HUMAN&rb=550&re=749&var=E596K	deleterious_low_confidence(0.01)				YES	PPP2R3A,missense_variant,p.Glu596Lys,ENST00000264977,NM_001190447.1,NM_002718.4;PPP2R3A,intron_variant,,ENST00000490467,;							MODERATE	1786/3453	E596K	P2R3A_HUMAN			Transcript		benign(0.223)	.	ENSP00000264977		CCDS3087.1			1	
HECTD4	0	LGGM	GRCh37	12	112696939	112696939	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	124	15	.	.	ENST00000550722.1:c.2566C>T	p.Gln856Ter	p.Q856*	ENST00000550722	NM_001109662.3	856	Cag/Tag	0	1	1	UPI00020CE513	0	NA	ENST00000550722		ENSG00000173064	26611		139	0		HGNC	p.Q64X		HECTD4		SNV							ENST00000547352	protein_coding	getma.org/?cm=var&var=hg19,12,112696939,G,A&fts=all				Q/*		A	NA	2962/15405		NA		F8VWT9_HUMAN,F8VU57_HUMAN			YES	HECTD4,stop_gained,p.Gln856Ter,ENST00000550722,NM_001109662.3;HECTD4,stop_gained,p.Gln570Ter,ENST00000430131,;HECTD4,stop_gained,p.Gln820Ter,ENST00000377560,;RP3-521E19.2,downstream_gene_variant,,ENST00000547401,;HECTD4,non_coding_transcript_exon_variant,,ENST00000311694,;HECTD4,non_coding_transcript_exon_variant,,ENST00000547352,;							HIGH	2566/12819	Q570*				Transcript			.	ENSP00000449784					1	
MUC16	0	LGGM	GRCh37	19	8997178	8997178	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	15	.	.	ENST00000397910.4:c.41018C>T	p.Ser13673Phe	p.S13673F	ENST00000397910	NM_024690.2	13673	tCc/tTc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13636&to=13744&var=P13675F	ENST00000397910		ENSG00000181143	15582		62	2.6		HGNC	p.S13673F		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,8997178,G,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		S/F		A	medium	41222/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13636&re=13744&var=P13675F		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser13673Phe,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Ser513Phe,ENST00000599436,;MUC16,missense_variant,p.Ser314Phe,ENST00000380951,;MUC16,missense_variant,p.Ser513Phe,ENST00000601404,;MUC16,missense_variant,p.Ser293Phe,ENST00000596768,;							MODERATE	41018/43524	P13675F				Transcript		probably_damaging(0.973)	.	ENSP00000381008		CCDS54212.1			1	
PLCH1	0	LGGM	GRCh37	3	155199917	155199917	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	28	15	.	.	ENST00000340059.7:c.3922C>T	p.Pro1308Ser	p.P1308S	ENST00000340059	NM_001130960.1	1308	Cct/Tct	0	1	1	UPI00001D800E	0	NA	ENST00000340059		ENSG00000114805	29185		43	-0.46		HGNC	p.P1270S	rs778473517	PLCH1		SNV							ENST00000334686	protein_coding	getma.org/?cm=var&var=hg19,3,155199917,G,A&fts=all				P/S		A	neutral	3922/6168	0.000105	getma.org/?cm=msa&ty=f&p=PLCH1_HUMAN&rb=1227&re=1426&var=P1308S	tolerated_low_confidence(0.4)				YES	PLCH1,missense_variant,p.Pro1270Ser,ENST00000460012,;PLCH1,missense_variant,p.Pro1270Ser,ENST00000414191,;PLCH1,missense_variant,p.Pro1308Ser,ENST00000340059,NM_001130960.1;PLCH1,missense_variant,p.Pro1270Ser,ENST00000334686,NM_014996.2;PLCH1,3_prime_UTR_variant,,ENST00000447496,NM_001130961.1;PLCH1,intron_variant,,ENST00000494598,;PLCH1-AS2,upstream_gene_variant,,ENST00000472913,;							MODERATE	3922/5082	P1308S	PLCH1_HUMAN			Transcript		benign(0.004)	.	ENSP00000345988	5.77E-05	CCDS46939.1			1	
KIAA1715	0	LGGM	GRCh37	2	176794895	176794895	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	15	.	.	ENST00000272748.4:c.1087A>G	p.Thr363Ala	p.T363A	ENST00000272748	NM_030650.1	363	Aca/Gca	0	1	1	UPI00001C1DB7	0	NA	ENST00000272748		ENSG00000144320	21610		69	1.845		HGNC	p.T240A		KIAA1715		SNV							ENST00000409660	protein_coding	getma.org/?cm=var&var=hg19,2,176794895,T,C&fts=all		hmmpanther:PTHR22166		T/A		C	low	1335/7610		getma.org/?cm=msa&ty=f&p=LNP_HUMAN&rb=306&re=428&var=T363A	tolerated(0.27)	C9JM95_HUMAN			YES	KIAA1715,missense_variant,p.Thr363Ala,ENST00000272748,NM_030650.1;KIAA1715,missense_variant,p.Thr240Ala,ENST00000409660,;KIAA1715,missense_variant,p.Thr394Ala,ENST00000544803,;KIAA1715,3_prime_UTR_variant,,ENST00000535310,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000475515,;KIAA1715,3_prime_UTR_variant,,ENST00000431754,;KIAA1715,non_coding_transcript_exon_variant,,ENST00000479012,;							MODERATE	1087/1287	T363A	LNP_HUMAN			Transcript		benign(0.004)	.	ENSP00000272748		CCDS33332.1			1	
GRIK3	0	LGGM	GRCh37	1	37307447	37307447	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	15	.	.	ENST00000373091.3:c.1420G>A	p.Ala474Thr	p.A474T	ENST00000373091	NM_000831.3	474	Gcc/Acc	0	1	1	UPI000013E311	0	getma.org/pdb.php?prot=GRIK3_HUMAN&from=445&to=509&var=A474T	ENST00000373091		ENSG00000163873	4581		75	2.515		HGNC	p.A474T	rs778503766	GRIK3		SNV							ENST00000373093	protein_coding	getma.org/?cm=var&var=hg19,1,37307447,C,T&fts=all		Superfamily_domains:SSF53850,SMART_domains:SM00079,SMART_domains:SM00918,Pfam_domain:PF10613,Gene3D:3.40.190.10,hmmpanther:PTHR18966:SF174,hmmpanther:PTHR18966		A/T		T	medium	1437/9101		getma.org/?cm=msa&ty=f&p=GRIK3_HUMAN&rb=445&re=509&var=A474T	deleterious(0)	Q96SC0_HUMAN			YES	GRIK3,missense_variant,p.Ala474Thr,ENST00000373091,NM_000831.3;GRIK3,missense_variant,p.Ala474Thr,ENST00000373093,;	0.000116						MODERATE	1420/2760	A474T	GRIK3_HUMAN			Transcript		possibly_damaging(0.447)	.	ENSP00000362183	8.24E-06	CCDS416.1			1	
WDFY4	0	LGGM	GRCh37	10	49985029	49985029	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	15	.	.	ENST00000325239.5:c.3098G>A	p.Gly1033Asp	p.G1033D	ENST00000325239	NM_020945.1	1033	gGc/gAc	0	1	1	UPI000176ADB8	0	NA	ENST00000325239		ENSG00000128815	29323		65	2.165		HGNC	p.G1033D		WDFY4		SNV							ENST00000325239	protein_coding	getma.org/?cm=var&var=hg19,10,49985029,G,A&fts=all		hmmpanther:PTHR13743:SF52,hmmpanther:PTHR13743		G/D		A	medium	3125/9962		getma.org/?cm=msa&ty=f&p=WDFY4_HUMAN&rb=1001&re=1200&var=G1033D	deleterious(0)	Q6PIM1_HUMAN			YES	WDFY4,missense_variant,p.Gly1033Asp,ENST00000325239,NM_020945.1;WDFY4,intron_variant,,ENST00000413659,;							MODERATE	3098/9555	G1033D	WDFY4_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000320563		CCDS44385.1			1	
LY75	0	LGGM	GRCh37	2	160676292	160676292	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	15	.	.	ENST00000504764.1:c.4098T>A	p.Ile1366=	p.I1366=	ENST00000504764	NM_001198759.1	1366	atT/atA	0	1		UPI00001AE885	0		ENST00000263636		ENSG00000054219	6729		88			HGNC	p.I1366I		LY75		SNV							ENST00000554112	protein_coding			hmmpanther:PTHR22803,hmmpanther:PTHR22803:SF65,SMART_domains:SM00034		I		T		4126/6886								LY75,synonymous_variant,p.=,ENST00000263636,NM_002349.3;LY75-CD302,synonymous_variant,p.=,ENST00000504764,NM_001198759.1;LY75,synonymous_variant,p.=,ENST00000554112,;LY75-CD302,synonymous_variant,p.=,ENST00000505052,NM_001198760.1;LY75,synonymous_variant,p.=,ENST00000553424,;							LOW	4098/5169		LY75_HUMAN			Transcript			.	ENSP00000263636		CCDS2211.1			1	
PDS5A	0	LGGM	GRCh37	4	39905670	39905670	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	15	.	.	ENST00000303538.8:c.1375A>G	p.Ile459Val	p.I459V	ENST00000303538	NM_001100399.1	459	Att/Gtt	0	1	1	UPI00006C6A7E	0	NA	ENST00000303538		ENSG00000121892	29088		75	1.645		HGNC	p.I459V		PDS5A		SNV							ENST00000303538	protein_coding	getma.org/?cm=var&var=hg19,4,39905670,T,C&fts=all		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF2		I/V		C	low	1915/7176		getma.org/?cm=msa&ty=f&p=PDS5A_HUMAN&rb=1&re=1167&var=I459V	tolerated(0.14)	Q96DB6_HUMAN,G1UI16_HUMAN,B3KMN2_HUMAN			YES	PDS5A,missense_variant,p.Ile459Val,ENST00000303538,NM_001100399.1;PDS5A,missense_variant,p.Ile459Val,ENST00000503396,NM_001100400.1;PDS5A,missense_variant,p.Ile97Val,ENST00000513798,;PDS5A,3_prime_UTR_variant,,ENST00000512643,;PDS5A,non_coding_transcript_exon_variant,,ENST00000503867,;							MODERATE	1375/4014	I459V	PDS5A_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000303427		CCDS47045.1			1	
KIF1B	0	LGGM	GRCh37	1	10397527	10397527	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	15	.	.	ENST00000263934.6:c.3220C>T	p.Arg1074Ter	p.R1074*	ENST00000263934	NM_015074.3	1074	Cga/Tga	0	1		UPI000003424C	0	NA	ENST00000377086		ENSG00000054523	16636		74	0		HGNC	p.R1074X		KIF1B		SNV			1				ENST00000263934	protein_coding	getma.org/?cm=var&var=hg19,1,10397527,C,T&fts=all		hmmpanther:PTHR24115,hmmpanther:PTHR24115:SF328		R/*		T	NA	3560/10669		NA		B4DMF3_HUMAN				KIF1B,stop_gained,p.Arg1120Ter,ENST00000377086,;KIF1B,stop_gained,p.Arg1120Ter,ENST00000377081,;KIF1B,stop_gained,p.Arg1074Ter,ENST00000263934,NM_015074.3;							HIGH	3358/5451	R1120*	KIF1B_HUMAN			Transcript			.	ENSP00000366290					1	
SOS1	0	LGGM	GRCh37	2	39239381	39239381	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	15	.	.	ENST00000402219.2:c.2276C>T	p.Pro759Leu	p.P759L	ENST00000402219	NM_005633.3	759	cCc/cTc	0	1		UPI0000135CF0	0	getma.org/pdb.php?prot=SOS1_HUMAN&from=718&to=776&var=P759L	ENST00000402219		ENSG00000115904	11187		61	2.69		HGNC	p.P759L		SOS1		SNV			1				ENST00000426016	protein_coding	getma.org/?cm=var&var=hg19,2,39239381,G,A&fts=all		Superfamily_domains:0041591,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF168		P/L		A	medium	2317/8314		getma.org/?cm=msa&ty=f&p=SOS1_HUMAN&rb=718&re=776&var=P759L	deleterious(0)	Q9UKX9_HUMAN,Q53SF8_HUMAN,C9K0N6_HUMAN				SOS1,missense_variant,p.Pro759Leu,ENST00000426016,;SOS1,missense_variant,p.Pro759Leu,ENST00000402219,NM_005633.3;SOS1,missense_variant,p.Pro759Leu,ENST00000395038,;SOS1,upstream_gene_variant,,ENST00000474390,;							MODERATE	2276/4002	P759L	SOS1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000384675		CCDS1802.1			1	
KRTAP13-4	0	LGGM	GRCh37	21	31802651	31802651	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	19	15	.	.	ENST00000334068.2:c.58T>C	p.Tyr20His	p.Y20H	ENST00000334068	NM_181600.1	20	Tac/Cac	0	1	1	UPI000003B46D	0	NA	ENST00000334068		ENSG00000186971	18926		34	-1.095		HGNC	p.Y20H		KRTAP13-4		SNV							ENST00000334068	protein_coding	getma.org/?cm=var&var=hg19,21,31802651,T,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR19051:SF10,hmmpanther:PTHR19051,Pfam_domain:PF05287		Y/H		C	neutral	80/645		getma.org/?cm=msa&ty=f&p=KR134_HUMAN&rb=1&re=155&var=Y20H	tolerated(0.37)				YES	KRTAP13-4,missense_variant,p.Tyr20His,ENST00000334068,NM_181600.1;KRTAP13-3,upstream_gene_variant,,ENST00000390690,NM_181622.1;							MODERATE	58/483	Y20H	KR134_HUMAN			Transcript		benign(0)	.	ENSP00000334834		CCDS13592.1			1	
NR2F6	0	LGGM	GRCh37	19	17351549	17351549	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	15	.	.	ENST00000291442.3:c.304C>T	p.Gln102Ter	p.Q102*	ENST00000291442	NM_005234.3	102	Cag/Tag	0	1	1	UPI0000129B28	0	NA	ENST00000291442		ENSG00000160113	7977		48	0		HGNC	p.Q102X		NR2F6		SNV							ENST00000291442	protein_coding	getma.org/?cm=var&var=hg19,19,17351549,G,A&fts=all		Gene3D:3.30.50.10,Pfam_domain:PF00105,PROSITE_profiles:PS51030,hmmpanther:PTHR24083,hmmpanther:PTHR24083:SF44,SMART_domains:SM00399,Superfamily_domains:SSF57716		Q/*		A	NA	1024/2404		NA		M0R384_HUMAN,M0R175_HUMAN,F1D8R3_HUMAN			YES	NR2F6,stop_gained,p.Gln102Ter,ENST00000291442,NM_005234.3;NR2F6,5_prime_UTR_variant,,ENST00000596878,;AC010646.3,5_prime_UTR_variant,,ENST00000594059,;							HIGH	304/1215	Q102*	NR2F6_HUMAN			Transcript			.	ENSP00000291442		CCDS12352.1			1	
OR56A3	0	LGGM	GRCh37	11	5969480	5969480	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	15	.	.	ENST00000329564.6:c.904G>A	p.Glu302Lys	p.E302K	ENST00000329564	NM_001003443.2	302	Gaa/Aaa	0	1	1	UPI0000041BF7	0	NA	ENST00000329564		ENSG00000184478	14786		56	2.245		HGNC	p.E302K	COSM3450361	OR56A3		SNV						1	ENST00000329564	protein_coding	getma.org/?cm=var&var=hg19,11,5969480,G,A&fts=all		Prints_domain:PR00237,Superfamily_domains:SSF81321,Gene3D:1.20.1070.10,hmmpanther:PTHR26450:SF40,hmmpanther:PTHR26450		E/K		A	medium	911/1022		getma.org/?cm=msa&ty=f&p=O56A3_HUMAN&rb=260&re=315&var=E302K	deleterious(0.02)				YES	OR56A3,missense_variant,p.Glu302Lys,ENST00000329564,NM_001003443.2;AC025016.1,downstream_gene_variant,,ENST00000528915,;					1		MODERATE	904/948	E302K	O56A3_HUMAN			Transcript		possibly_damaging(0.78)	.	ENSP00000331572		CCDS41614.1			1	
TLN1	0	LGGM	GRCh37	9	35717732	35717732	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	15	.	.	ENST00000314888.9:c.2047G>A	p.Val683Ile	p.V683I	ENST00000314888	NM_006289.3	683	Gtc/Atc	0	1	1	UPI0000211375	0	getma.org/pdb.php?prot=TLN1_HUMAN&from=653&to=852&var=V683I	ENST00000314888		ENSG00000137076	11845		68	2.815		HGNC	p.V683I		TLN1		SNV							ENST00000540444	protein_coding	getma.org/?cm=var&var=hg19,9,35717732,C,T&fts=all		Low_complexity_(Seg):seg,Superfamily_domains:SSF109885,Gene3D:1.20.1440.10,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981		V/I		T	medium	2401/8823		getma.org/?cm=msa&ty=f&p=TLN1_HUMAN&rb=653&re=852&var=V683I	deleterious(0.01)				YES	TLN1,missense_variant,p.Val683Ile,ENST00000314888,NM_006289.3;TLN1,missense_variant,p.Val683Ile,ENST00000540444,;							MODERATE	2047/7626	V683I	TLN1_HUMAN			Transcript		benign(0.238)	.	ENSP00000316029		CCDS35009.1			1	
ADRA1A	0	LGGM	GRCh37	8	26623660	26623660	+	intron_variant	Intron	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	27	15	.	.	ENST00000380586.1:c.1269+4138A>G		*423*	ENST00000380586	NM_033303.3			0	1		UPI000003B07A	0		ENST00000276393		ENSG00000120907	277		42		3562	HGNC	p.M426V		ADRA1A		SNV							ENST00000354550	protein_coding							C		-/2281				Q7KYZ9_HUMAN,Q6LD06_HUMAN				ADRA1A,missense_variant,p.Met426Val,ENST00000354550,NM_033304.2;ADRA1A,intron_variant,,ENST00000380586,NM_033303.3;ADRA1A,intron_variant,,ENST00000380582,NM_033302.2;ADRA1A,intron_variant,,ENST00000380587,;ADRA1A,intron_variant,,ENST00000519229,;ADRA1A,intron_variant,,ENST00000380581,;ADRA1A,downstream_gene_variant,,ENST00000380573,;ADRA1A,downstream_gene_variant,,ENST00000276393,NM_000680.2;ADRA1A,downstream_gene_variant,,ENST00000518621,;ADRA1A,intron_variant,,ENST00000519096,;ADRA1A,intron_variant,,ENST00000521711,;							MODIFIER	-/1401		ADA1A_HUMAN			Transcript			.	ENSP00000276393		CCDS6054.1			1	
ZNF114	0	LGGM	GRCh37	19	48789963	48789963	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	96	15	.	.	ENST00000595607.1:c.1082A>T	p.Tyr361Phe	p.Y361F	ENST00000595607		361	tAc/tTc	0	1		UPI000007282E	0	getma.org/pdb.php?prot=ZN114_HUMAN&from=346&to=370&var=Y361F	ENST00000315849		ENSG00000178150	12894		111	0.825		HGNC	p.Y361F		ZNF114		SNV							ENST00000600687	protein_coding	getma.org/?cm=var&var=hg19,19,48789963,A,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF6,SMART_domains:SM00355,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		Y/F		T	low	1306/2206		getma.org/?cm=msa&ty=f&p=ZN114_HUMAN&rb=326&re=390&var=Y361F	tolerated(0.35)	Q8N4J1_HUMAN				ZNF114,missense_variant,p.Tyr361Phe,ENST00000595607,;ZNF114,missense_variant,p.Tyr361Phe,ENST00000315849,NM_153608.1;ZNF114,missense_variant,p.Tyr327Phe,ENST00000597695,;ZNF114,missense_variant,p.Tyr361Phe,ENST00000600687,;ZNF114,downstream_gene_variant,,ENST00000595408,;ZNF114,downstream_gene_variant,,ENST00000594024,;ZNF114,downstream_gene_variant,,ENST00000601320,;ZNF114,downstream_gene_variant,,ENST00000598898,;							MODERATE	1082/1254	Y361F	ZN114_HUMAN			Transcript		benign(0.274)	.	ENSP00000318898		CCDS12713.1			1	
SDHB	0	LGGM	GRCh37	1	17345386	17345386	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	15	.	.	ENST00000375499.3:c.833C>T	p.Ala278Val	p.A278V	ENST00000375499	NM_003000.2	278	gCt/gTt	0	1	1	UPI0000129380	0	getma.org/pdb.php?prot=DHSB_HUMAN&from=259&to=280&var=A278V	ENST00000375499		ENSG00000117118	10681		75	0.69		HGNC	p.A278V		SDHB		SNV			1				ENST00000375499	protein_coding	getma.org/?cm=var&var=hg19,1,17345386,G,A&fts=all		hmmpanther:PTHR11921,hmmpanther:PTHR11921:SF8		A/V		A	neutral	984/1153		getma.org/?cm=msa&ty=f&p=DHSB_HUMAN&rb=229&re=280&var=A278V	tolerated_low_confidence(0.08)	Q70SX8_HUMAN,Q0QEY7_HUMAN			YES	SDHB,missense_variant,p.Ala278Val,ENST00000375499,NM_003000.2;SDHB,non_coding_transcript_exon_variant,,ENST00000485092,;SDHB,non_coding_transcript_exon_variant,,ENST00000475049,;SDHB,downstream_gene_variant,,ENST00000485515,;							MODERATE	833/843	A278V	DHSB_HUMAN			Transcript		benign(0.005)	.	ENSP00000364649		CCDS176.1			1	
LGR5	0	LGGM	GRCh37	12	71946988	71946988	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	105	15	.	.	ENST00000266674.5:c.564G>A	p.Leu188=	p.L188=	ENST00000266674	NM_001277226.1	188	ttG/ttA	0	1	1	UPI000004B65C	0		ENST00000266674		ENSG00000139292	4504		120			HGNC	p.L188L		LGR5		SNV							ENST00000266674	protein_coding			Gene3D:3.80.10.10,Pfam_domain:PF13306,PROSITE_profiles:PS51450,hmmpanther:PTHR24367,hmmpanther:PTHR24367:SF259,SMART_domains:SM00369,Superfamily_domains:SSF52058		L		A		875/4611							YES	LGR5,synonymous_variant,p.=,ENST00000266674,NM_001277226.1,NM_003667.3,NM_001277227.1;LGR5,synonymous_variant,p.=,ENST00000540815,;LGR5,intron_variant,,ENST00000536515,;LGR5,non_coding_transcript_exon_variant,,ENST00000550851,;							LOW	564/2724		LGR5_HUMAN			Transcript			.	ENSP00000266674		CCDS9000.1			1	
PDE6A	0	LGGM	GRCh37	5	149278943	149278943	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	15	.	.	ENST00000255266.5:c.1258A>T	p.Met420Leu	p.M420L	ENST00000255266	NM_000440.2	420	Atg/Ttg	0	1	1	UPI000013CE9F	0	getma.org/pdb.php?prot=PDE6A_HUMAN&from=254&to=431&var=M420L	ENST00000255266		ENSG00000132915	8785		51	1.495		HGNC	p.M420L		PDE6A		SNV			1				ENST00000255266	protein_coding	getma.org/?cm=var&var=hg19,5,149278943,T,A&fts=all		hmmpanther:PTHR11347:SF25,hmmpanther:PTHR11347,Gene3D:3.30.450.40,Pfam_domain:PF01590,SMART_domains:SM00065,Superfamily_domains:SSF55781		M/L		A	low	1378/5642		getma.org/?cm=msa&ty=f&p=PDE6A_HUMAN&rb=254&re=431&var=M420L	tolerated(0.23)	O75316_HUMAN			YES	PDE6A,missense_variant,p.Met420Leu,ENST00000255266,NM_000440.2;PDE6A,non_coding_transcript_exon_variant,,ENST00000508173,;							MODERATE	1258/2583	M420L	PDE6A_HUMAN			Transcript		benign(0.062)	.	ENSP00000255266		CCDS4299.1			1	
OR4K5	0	LGGM	GRCh37	14	20389035	20389035	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	139	15	.	.	ENST00000315915.4:c.270G>A	p.Glu90=	p.E90=	ENST00000315915	NM_001005483.1	90	gaG/gaA	0	1	1	UPI0000061E9E	0		ENST00000315915		ENSG00000176281	14745		154			HGNC	p.E90E		OR4K5		SNV							ENST00000315915	protein_coding			Gene3D:1.20.1070.10,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF46,Superfamily_domains:SSF81321		E		A		295/1078							YES	OR4K5,synonymous_variant,p.=,ENST00000315915,NM_001005483.1;							LOW	270/972		OR4K5_HUMAN			Transcript			.	ENSP00000319511		CCDS32024.1			1	
SDR42E1	0	LGGM	GRCh37	16	82033039	82033039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	15	.	.	ENST00000328945.5:c.859G>A	p.Val287Ile	p.V287I	ENST00000328945	NM_145168.2	287	Gtc/Atc	0	1	1	UPI000003F552	0	NA	ENST00000328945		ENSG00000184860	29834		52	-0.26		HGNC	p.V287I		SDR42E1		SNV							ENST00000328945	protein_coding	getma.org/?cm=var&var=hg19,16,82033039,C,T&fts=all		Gene3D:3.40.50.720,hmmpanther:PTHR10366,hmmpanther:PTHR10366:SF317,Transmembrane_helices:TMhelix		V/I		T	neutral	987/2805		getma.org/?cm=msa&ty=f&p=D42E1_HUMAN&rb=285&re=393&var=V287I	tolerated(0.56)				YES	SDR42E1,missense_variant,p.Val287Ile,ENST00000328945,NM_145168.2;SDR42E1,downstream_gene_variant,,ENST00000532128,;SDR42E1,downstream_gene_variant,,ENST00000534209,;							MODERATE	859/1182	V287I	D42E1_HUMAN			Transcript		benign(0.004)	.	ENSP00000332407		CCDS42205.1			1	
DDX24	0	LGGM	GRCh37	14	94545803	94545803	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	15	.	.	ENST00000330836.5:c.286A>T	p.Lys96Ter	p.K96*	ENST00000330836	NM_020414.3	96	Aag/Tag	0	1	1	UPI0000129082	0	NA	ENST00000330836		ENSG00000089737	13266		69	0		HGNC	p.K96X		DDX24		SNV							ENST00000330836	protein_coding	getma.org/?cm=var&var=hg19,14,94545803,T,A&fts=all		hmmpanther:PTHR24031,hmmpanther:PTHR24031:SF91,Low_complexity_(Seg):seg		K/*		A	NA	418/2981		NA		G3V529_HUMAN,F5GYL3_HUMAN			YES	DDX24,stop_gained,p.Lys96Ter,ENST00000330836,NM_020414.3;DDX24,stop_gained,p.Lys53Ter,ENST00000555054,;DDX24,intron_variant,,ENST00000544005,;IFI27L1,upstream_gene_variant,,ENST00000556381,;IFI27L1,upstream_gene_variant,,ENST00000555523,NM_206949.2;IFI27L1,upstream_gene_variant,,ENST00000393115,NM_145249.2;IFI27L1,upstream_gene_variant,,ENST00000553664,;IFI27L1,upstream_gene_variant,,ENST00000555341,;IFI27L1,upstream_gene_variant,,ENST00000554166,;IFI27L1,upstream_gene_variant,,ENST00000557066,;IFI27L1,upstream_gene_variant,,ENST00000557218,;IFI27L1,upstream_gene_variant,,ENST00000554544,;IFI27L1,upstream_gene_variant,,ENST00000553350,;IFI27L1,upstream_gene_variant,,ENST00000555065,;DDX24,non_coding_transcript_exon_variant,,ENST00000555762,;DDX24,non_coding_transcript_exon_variant,,ENST00000555324,;IFI27L1,upstream_gene_variant,,ENST00000557600,;							HIGH	286/2580	K96*	DDX24_HUMAN			Transcript			.	ENSP00000328690		CCDS9918.1			1	
MUC5B	0	LGGM	GRCh37	11	1271578	1271578	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	15	.	.	ENST00000529681.1:c.13468G>A	p.Val4490Ile	p.V4490I	ENST00000529681	NM_002458.2	4490	Gtc/Atc	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		81	1.04		HGNC	p.V4493I	rs374217936	MUC5B		SNV	A:0.0002		1	0.000103			ENST00000447027	protein_coding	getma.org/?cm=var&var=hg19,11,1271578,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		V/I	A:0	A	low	13526/17911		getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=4438&re=4637&var=V4490I		Q93043_HUMAN			YES	MUC5B,missense_variant,p.Val4493Ile,ENST00000447027,;MUC5B,missense_variant,p.Val4490Ile,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;							MODERATE	13468/17289	V4490I	MUC5B_HUMAN			Transcript		benign(0.007)	.	ENSP00000436812	8.25E-06	CCDS44515.2			1	
ZNF592	0	LGGM	GRCh37	15	85326972	85326972	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	15	.	.	ENST00000299927.3:c.1066A>T	p.Ser356Cys	p.S356C	ENST00000299927		356	Agc/Tgc	0	1	1	UPI000013E5FC	0	NA	ENST00000299927		ENSG00000166716	28986		65	1.445		HGNC	p.S356C		ZNF592		SNV			1				ENST00000560079	protein_coding	getma.org/?cm=var&var=hg19,15,85326972,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF199		S/C		T	low	1088/7861		getma.org/?cm=msa&ty=f&p=ZN592_HUMAN&rb=201&re=400&var=S356C	deleterious(0)				YES	ZNF592,missense_variant,p.Ser356Cys,ENST00000299927,;ZNF592,missense_variant,p.Ser356Cys,ENST00000560079,NM_014630.2;ZNF592,missense_variant,p.Ser356Cys,ENST00000559607,;							MODERATE	1066/3804	S356C	ZN592_HUMAN			Transcript		possibly_damaging(0.837)	.	ENSP00000299927		CCDS32317.1			1	
MLH1	0	LGGM	GRCh37	3	37050397	37050397	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	16	.	.	ENST00000231790.2:c.545+1G>A		p.X182_splice	ENST00000231790	NM_000249.3			0	1	1	UPI0000000C7E	0		ENST00000231790	likely_pathogenic	ENSG00000076242	7127		56			HGNC	-	rs267607765,MMR_c.545+1G>A	MLH1		SNV			1			1,0	ENST00000231790	protein_coding							A		-/2752				Q5GJ64_HUMAN,F2Z298_HUMAN,E7EUC9_HUMAN,C4PFY8_HUMAN,B7Z821_HUMAN,A8W2I7_HUMAN			YES	MLH1,splice_donor_variant,,ENST00000231790,NM_000249.3,NM_001258273.1;MLH1,splice_donor_variant,,ENST00000458205,NM_001258274.1;MLH1,splice_donor_variant,,ENST00000435176,NM_001167617.1,NM_001167618.1;MLH1,splice_donor_variant,,ENST00000536378,;MLH1,splice_donor_variant,,ENST00000455445,;MLH1,splice_donor_variant,,ENST00000456676,NM_001258271.1;MLH1,intron_variant,,ENST00000539477,NM_001167619.1;MLH1,intron_variant,,ENST00000441265,;MLH1,downstream_gene_variant,,ENST00000429117,;MLH1,splice_donor_variant,,ENST00000492474,;MLH1,splice_donor_variant,,ENST00000485889,;MLH1,downstream_gene_variant,,ENST00000466900,;MLH1,splice_donor_variant,,ENST00000432299,;MLH1,splice_donor_variant,,ENST00000457004,;MLH1,splice_donor_variant,,ENST00000454028,;MLH1,splice_donor_variant,,ENST00000442249,;MLH1,upstream_gene_variant,,ENST00000458009,;MLH1,upstream_gene_variant,,ENST00000447829,;							HIGH	545/2271		MLH1_HUMAN			Transcript			.	ENSP00000231790		CCDS2663.1			1	
PARP3	0	LGGM	GRCh37	3	51981877	51981877	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	16	.	.	ENST00000398755.3:c.1419C>T	p.Phe473=	p.F473=	ENST00000398755		473	ttC/ttT	0	1		UPI0000457116	0		ENST00000417220		ENSG00000041880	273		95			HGNC	p.F473F	rs773026320	PARP3		SNV				0.000204			ENST00000398755	protein_coding			PROSITE_profiles:PS51059,hmmpanther:PTHR15447,hmmpanther:PTHR15447:SF9,Gene3D:3.90.228.10,Pfam_domain:PF00644,Superfamily_domains:SSF56399		F		T		1886/2472				C9J9C7_HUMAN				PARP3,synonymous_variant,p.=,ENST00000417220,;PARP3,synonymous_variant,p.=,ENST00000431474,NM_005485.4,NM_001003931.2;PARP3,synonymous_variant,p.=,ENST00000398755,;PARP3,downstream_gene_variant,,ENST00000498510,;PARP3,non_coding_transcript_exon_variant,,ENST00000486510,;PARP3,3_prime_UTR_variant,,ENST00000471971,;PARP3,downstream_gene_variant,,ENST00000470601,;PARP3,downstream_gene_variant,,ENST00000475782,;PARP3,downstream_gene_variant,,ENST00000470749,;							LOW	1398/1602		PARP3_HUMAN			Transcript			.	ENSP00000395951	1.65E-05	CCDS43097.1			1	
MUC16	0	LGGM	GRCh37	19	9065755	9065755	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	127	16	.	.	ENST00000397910.4:c.21691T>A	p.Leu7231Met	p.L7231M	ENST00000397910	NM_024690.2	7231	Ttg/Atg	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		143	0		HGNC	p.L7231M		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9065755,A,T&fts=all				L/M		T	neutral	21895/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=6850&re=7305&var=L7233M		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Leu7231Met,ENST00000397910,NM_024690.2;							MODERATE	21691/43524	L7233M				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
BTBD9	0	LGGM	GRCh37	6	38562060	38562060	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	16	.	.	ENST00000481247.1:c.229G>A	p.Glu77Lys	p.E77K	ENST00000481247	NM_052893.1	77	Gaa/Aaa	0	1	1	UPI00001C040E	0	getma.org/pdb.php?prot=BTBD9_HUMAN&from=28&to=137&var=E77K	ENST00000481247		ENSG00000183826	21228		67	1.755		HGNC	p.E18K		BTBD9		SNV			1				ENST00000419706	protein_coding	getma.org/?cm=var&var=hg19,6,38562060,C,T&fts=all		PROSITE_profiles:PS50097,hmmpanther:PTHR24413,hmmpanther:PTHR24413:SF101,Gene3D:3.30.710.10,Pfam_domain:PF00651,SMART_domains:SM00225,Superfamily_domains:SSF54695		E/K		T	low	381/8525		getma.org/?cm=msa&ty=f&p=BTBD9_HUMAN&rb=28&re=137&var=E77K	tolerated(0.13)	Q8N299_HUMAN,C9JVC1_HUMAN,C9J8E4_HUMAN			YES	BTBD9,missense_variant,p.Glu77Lys,ENST00000481247,NM_052893.1,NM_001099272.1;BTBD9,missense_variant,p.Glu9Lys,ENST00000314100,NM_001172418.1,NM_152733.2;BTBD9,missense_variant,p.Glu18Lys,ENST00000419706,;BTBD9,missense_variant,p.Glu77Lys,ENST00000403056,;BTBD9,missense_variant,p.Glu9Lys,ENST00000408958,;BTBD9,missense_variant,p.Glu9Lys,ENST00000497373,;BTBD9,missense_variant,p.Glu77Lys,ENST00000498633,;BTBD9,missense_variant,p.Glu9Lys,ENST00000328403,;							MODERATE	229/1839	E77K	BTBD9_HUMAN			Transcript		unknown(0)	.	ENSP00000418751		CCDS47418.1			1	
CERK	0	LGGM	GRCh37	22	47116830	47116830	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	16	.	.	ENST00000216264.8:c.225G>A	p.Trp75Ter	p.W75*	ENST00000216264	NM_022766.5	75	tgG/tgA	0	1	1	UPI000004BBBD	0	NA	ENST00000216264		ENSG00000100422	19256		95	0		HGNC	p.W75X		CERK		SNV							ENST00000443629	protein_coding	getma.org/?cm=var&var=hg19,22,47116830,C,T&fts=all		hmmpanther:PTHR12358,hmmpanther:PTHR12358:SF25		W/*		T	NA	338/4450		NA		Q6NX59_HUMAN			YES	CERK,stop_gained,p.Trp75Ter,ENST00000216264,NM_022766.5;CERK,5_prime_UTR_variant,,ENST00000541677,;CERK,stop_gained,p.Trp75Ter,ENST00000443629,;							HIGH	225/1614	W75*	CERK1_HUMAN			Transcript			.	ENSP00000216264		CCDS14077.1			1	
MUC5B	0	LGGM	GRCh37	11	1269768	1269768	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	16	.	.	ENST00000529681.1:c.11658G>A	p.Thr3886=	p.T3886=	ENST00000529681	NM_002458.2	3886	acG/acA	0	1	1	UPI0001DD21C7	0		ENST00000529681		ENSG00000117983	7516		68			HGNC	p.T3889T	rs757659465	MUC5B	6.06E-05	SNV			1				ENST00000447027	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		T		A		11716/17911	1.51E-05			Q93043_HUMAN			YES	MUC5B,synonymous_variant,p.=,ENST00000447027,;MUC5B,synonymous_variant,p.=,ENST00000529681,NM_002458.2;RP11-532E4.2,intron_variant,,ENST00000532061,;							LOW	11658/17289		MUC5B_HUMAN			Transcript			.	ENSP00000436812	1.65E-05	CCDS44515.2			1	
FBN2	0	LGGM	GRCh37	5	127642879	127642879	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	16	.	.	ENST00000508053.1:c.5370A>T	p.Ile1790=	p.I1790=	ENST00000508053		1790	atA/atT	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		72			HGNC	p.I1790I		FBN2		SNV			1				ENST00000508053	protein_coding			Gene3D:3.90.290.10,Pfam_domain:PF00683,PIRSF_domain:PIRSF036312,PROSITE_profiles:PS51364,hmmpanther:PTHR24039,hmmpanther:PTHR24039:SF19,Superfamily_domains:SSF57581		I		A		5809/10724								FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;							LOW	5370/8739		FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
MIOS	0	LGGM	GRCh37	7	7612248	7612248	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	16	.	.	ENST00000340080.4:c.142G>A	p.Asp48Asn	p.D48N	ENST00000340080	NM_019005.3	48	Gac/Aac	0	1	1	UPI000020EB0B	0	getma.org/pdb.php?prot=MIO_HUMAN&from=1&to=377&var=D48N	ENST00000340080		ENSG00000164654	21905		74	1.1		HGNC	p.D48N	rs751689193	MIOS		SNV				0.000102			ENST00000433635	protein_coding	getma.org/?cm=var&var=hg19,7,7612248,G,A&fts=all		hmmpanther:PTHR16453		D/N		A	low	563/3453		getma.org/?cm=msa&ty=f&p=MIO_HUMAN&rb=1&re=377&var=D48N	tolerated(0.36)	C9JUE6_HUMAN,C9JTV2_HUMAN,C9JAQ1_HUMAN			YES	MIOS,missense_variant,p.Asp48Asn,ENST00000340080,NM_019005.3;MIOS,missense_variant,p.Asp48Asn,ENST00000405785,;MIOS,missense_variant,p.Asp48Asn,ENST00000456533,;MIOS,missense_variant,p.Asp48Asn,ENST00000433056,;MIOS,missense_variant,p.Asp48Asn,ENST00000433635,;MIOS,missense_variant,p.Asp48Asn,ENST00000445169,;							MODERATE	142/2628	D48N	MIO_HUMAN			Transcript		benign(0.002)	.	ENSP00000339881	8.28E-06	CCDS43554.1			1	
MYO18B	0	LGGM	GRCh37	22	26348327	26348327	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	16	.	.	ENST00000335473.7:c.5908G>A	p.Ala1970Thr	p.A1970T	ENST00000335473	NM_032608.5	1970	Gcg/Acg	0	1		UPI0000207402	0	NA	ENST00000536101		ENSG00000133454	18150		69	2.33		HGNC	p.A1971T		MYO18B		SNV							ENST00000407587	protein_coding	getma.org/?cm=var&var=hg19,22,26348327,G,A&fts=all		hmmpanther:PTHR13140,hmmpanther:PTHR13140:SF254		A/T		A	medium	6167/8051		getma.org/?cm=msa&ty=f&p=MY18B_HUMAN&rb=1861&re=1981&var=A1970T	deleterious(0)	Q8N903_HUMAN				MYO18B,missense_variant,p.Ala1970Thr,ENST00000335473,NM_032608.5;MYO18B,missense_variant,p.Ala1971Thr,ENST00000407587,;MYO18B,missense_variant,p.Ala1970Thr,ENST00000536101,;MYO18B,upstream_gene_variant,,ENST00000543971,;MYO18B,upstream_gene_variant,,ENST00000539544,;MYO18B,3_prime_UTR_variant,,ENST00000539302,;MYO18B,non_coding_transcript_exon_variant,,ENST00000418374,;							MODERATE	5908/7704	A1970T				Transcript		probably_damaging(0.947)	.	ENSP00000441229		CCDS54507.1			1	
SPG20	0	LGGM	GRCh37	13	36909182	36909182	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	94	16	.	.	ENST00000451493.1:c.786A>T	p.Leu262=	p.L262=	ENST00000451493	NM_001142295.1	262	ctA/ctT	0	1		UPI000006F5EE	0		ENST00000355182		ENSG00000133104	18514		110			HGNC	p.L262L		SPG20		SNV			1				ENST00000423217	protein_coding			hmmpanther:PTHR21068,hmmpanther:PTHR21068:SF20		L		A		880/4820								SPG20,synonymous_variant,p.=,ENST00000451493,NM_001142295.1;SPG20,synonymous_variant,p.=,ENST00000355182,NM_001142294.1;SPG20,synonymous_variant,p.=,ENST00000438666,NM_015087.4;SPG20,synonymous_variant,p.=,ENST00000494062,NM_001142296.1;SPG20,non_coding_transcript_exon_variant,,ENST00000495510,;SPG20,downstream_gene_variant,,ENST00000494703,;SPG20,downstream_gene_variant,,ENST00000476377,;							LOW	786/2001		SPG20_HUMAN			Transcript			.	ENSP00000347314		CCDS9356.1			1	
ZFX	0	LGGM	GRCh37	X	24225591	24225591	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	16	.	.	ENST00000379177.1:c.795A>G	p.Leu265=	p.L265=	ENST00000379177	NM_003410.3	265	ttA/ttG	0	1		UPI000013C504	0		ENST00000304543		ENSG00000005889	12869		45			HGNC	p.L265L		ZFX		SNV							ENST00000304543	protein_coding			Pfam_domain:PF04704,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF208		L		G		1049/2996				Q9BYX9_HUMAN,Q8WXB8_HUMAN,Q8NHZ5_HUMAN,C9JGU9_HUMAN,C9J682_HUMAN				ZFX,splice_region_variant,p.=,ENST00000379177,NM_003410.3,NM_001178085.1;ZFX,splice_region_variant,p.=,ENST00000379188,NM_001178084.1,NM_001178095.1;ZFX,splice_region_variant,p.=,ENST00000539115,NM_001178086.1;ZFX,splice_region_variant,p.=,ENST00000304543,;ZFX,splice_region_variant,p.=,ENST00000540034,;ZFX,intron_variant,,ENST00000338565,;ZFX,splice_region_variant,,ENST00000459724,;							LOW	795/2418		ZFX_HUMAN			Transcript			.	ENSP00000304985		CCDS14211.1			1	
TRERF1	0	LGGM	GRCh37	6	42214269	42214269	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	16	.	.	ENST00000372922.4:c.2670G>A	p.Trp890Ter	p.W890*	ENST00000372922	NM_033502.2	890	tgG/tgA	0	1	1	UPI0000052952	0	NA	ENST00000372922		ENSG00000124496	18273		55	0		HGNC	p.W807X		TRERF1		SNV							ENST00000372917	protein_coding	getma.org/?cm=var&var=hg19,6,42214269,C,T&fts=all		PROSITE_profiles:PS51293,hmmpanther:PTHR16089:SF19,hmmpanther:PTHR16089,SMART_domains:SM00717,Superfamily_domains:SSF46689		W/*		T	NA	3233/7286		NA					YES	TRERF1,stop_gained,p.Trp910Ter,ENST00000541110,;TRERF1,stop_gained,p.Trp807Ter,ENST00000372917,;TRERF1,stop_gained,p.Trp890Ter,ENST00000372922,NM_033502.2;TRERF1,stop_gained,p.Trp807Ter,ENST00000340840,;TRERF1,stop_gained,p.Trp807Ter,ENST00000354325,;							HIGH	2670/3603	W890*	TREF1_HUMAN			Transcript			.	ENSP00000362013		CCDS4867.1			1	
UBR4	0	LGGM	GRCh37	1	19482099	19482099	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	16	.	.	ENST00000375254.3:c.6136A>G	p.Ile2046Val	p.I2046V	ENST00000375254	NM_020765.2	2046	Ata/Gta	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		51	1.03		HGNC	p.I2046V		UBR4		SNV							ENST00000375226	protein_coding	getma.org/?cm=var&var=hg19,1,19482099,T,C&fts=all		hmmpanther:PTHR21725,Superfamily_domains:SSF50978		I/V		C	low	6164/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=1931&re=2130&var=I2046V		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Ile2046Val,ENST00000375267,;UBR4,missense_variant,p.Ile2046Val,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Ile2046Val,ENST00000375217,;UBR4,missense_variant,p.Ile2046Val,ENST00000375226,;UBR4,missense_variant,p.Ile756Val,ENST00000417040,;UBR4,upstream_gene_variant,,ENST00000425413,;UBR4,upstream_gene_variant,,ENST00000497018,;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,;							MODERATE	6136/15552	I2046V	UBR4_HUMAN			Transcript		benign(0.094)	.	ENSP00000364403		CCDS189.1			1	
SP2	0	LGGM	GRCh37	17	45993657	45993657	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	16	.	.	ENST00000376741.4:c.220C>T	p.Pro74Ser	p.P74S	ENST00000376741	NM_003110.5	74	Cct/Tct	0	1	1	UPI00005A7765	0	NA	ENST00000376741		ENSG00000167182	11207		68	1.845		HGNC	p.P74S		SP2		SNV							ENST00000376741	protein_coding	getma.org/?cm=var&var=hg19,17,45993657,C,T&fts=all		hmmpanther:PTHR23235,hmmpanther:PTHR23235:SF1		P/S		T	low	357/3112		getma.org/?cm=msa&ty=f&p=SP2_HUMAN&rb=3&re=491&var=P74S	deleterious(0.01)				YES	SP2,missense_variant,p.Pro74Ser,ENST00000376741,NM_003110.5;AC003665.1,intron_variant,,ENST00000411573,;AC003665.1,intron_variant,,ENST00000451140,;AC003665.1,intron_variant,,ENST00000433001,;AC003665.1,intron_variant,,ENST00000585280,;							MODERATE	220/1842	P74S	SP2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000365931		CCDS11521.2			1	
ATP5C1	0	LGGM	GRCh37	10	7844724	7844724	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	16	.	.	ENST00000356708.7:c.797A>T	p.Glu266Val	p.E266V	ENST00000356708	NM_001001973.1	266	gAg/gTg	0	1	1	UPI0000126574	0	getma.org/pdb.php?prot=ATPG_HUMAN&from=26&to=297&var=E266V	ENST00000356708		ENSG00000165629	833		51	3.66		HGNC	p.E219V		ATP5C1		SNV							ENST00000541227	protein_coding	getma.org/?cm=var&var=hg19,10,7844724,A,T&fts=all		Gene3D:1.10.287.80,Pfam_domain:PF00231,hmmpanther:PTHR11693,hmmpanther:PTHR11693:SF22,Superfamily_domains:SSF52943,TIGRFAM_domain:TIGR01146		E/V		T	high	876/1163		getma.org/?cm=msa&ty=f&p=ATPG_HUMAN&rb=26&re=297&var=E266V	deleterious(0)	Q8TAS0_HUMAN,B4DL14_HUMAN,B4DFE6_HUMAN			YES	ATP5C1,missense_variant,p.Glu266Val,ENST00000356708,NM_001001973.1;ATP5C1,missense_variant,p.Glu266Val,ENST00000335698,NM_005174.2;ATP5C1,missense_variant,p.Glu219Val,ENST00000541227,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000493053,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000473809,;ATP5C1,non_coding_transcript_exon_variant,,ENST00000480528,;ATP5C1,intron_variant,,ENST00000465936,;ATP5C1,downstream_gene_variant,,ENST00000460820,;ATP5C1,downstream_gene_variant,,ENST00000472202,;							MODERATE	797/897	E266V	ATPG_HUMAN			Transcript		possibly_damaging(0.778)	.	ENSP00000349142		CCDS31142.1			1	
RIMS1	0	LGGM	GRCh37	6	73102443	73102443	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	16	.	.	ENST00000521978.1:c.4549A>T	p.Ser1517Cys	p.S1517C	ENST00000521978	NM_014989.5	1517	Agt/Tgt	0	1	1	UPI00001908FB	0	NA	ENST00000521978		ENSG00000079841	17282		95	2.33		HGNC	p.S1196C		RIMS1		SNV			1				ENST00000518273	protein_coding	getma.org/?cm=var&var=hg19,6,73102443,A,T&fts=all		hmmpanther:PTHR12157,hmmpanther:PTHR12157:SF19		S/C		T	medium	4549/5079		getma.org/?cm=msa&ty=f&p=RIMS1_HUMAN&rb=1451&re=1552&var=S1517C	deleterious(0)				YES	RIMS1,missense_variant,p.Ser1366Cys,ENST00000264839,;RIMS1,missense_variant,p.Ser1300Cys,ENST00000348717,;RIMS1,missense_variant,p.Ser1517Cys,ENST00000521978,NM_014989.5;RIMS1,missense_variant,p.Ser1340Cys,ENST00000491071,;RIMS1,missense_variant,p.Ser1167Cys,ENST00000520567,;RIMS1,missense_variant,p.Ser1300Cys,ENST00000517960,;RIMS1,missense_variant,p.Ser1196Cys,ENST00000518273,;RIMS1,missense_variant,p.Ser1116Cys,ENST00000522291,;RIMS1,missense_variant,p.Ser837Cys,ENST00000401910,NM_001168407.1;RIMS1,missense_variant,p.Ser863Cys,ENST00000517433,;RIMS1,missense_variant,p.Ser642Cys,ENST00000523963,NM_001168408.1;RIMS1,missense_variant,p.Ser651Cys,ENST00000517827,NM_001168410.1;RIMS1,missense_variant,p.Ser585Cys,ENST00000425662,NM_001168409.1;RIMS1,missense_variant,p.Ser682Cys,ENST00000453976,;RIMS1,missense_variant,p.Ser435Cys,ENST00000522211,;RIMS1,missense_variant,p.Ser323Cys,ENST00000538414,;RIMS1,missense_variant,p.Ser565Cys,ENST00000370420,;RIMS1,missense_variant,p.Ser44Cys,ENST00000414192,NM_001168411.1;RIMS1,non_coding_transcript_exon_variant,,ENST00000431478,;RIMS1,non_coding_transcript_exon_variant,,ENST00000463023,;							MODERATE	4549/5079	S1517C	RIMS1_HUMAN			Transcript		possibly_damaging(0.507)	.	ENSP00000428417		CCDS47449.1			1	
POTEE	0	LGGM	GRCh37	2	131976428	131976428	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	185	16	.	.	ENST00000356920.5:c.453A>T	p.Lys151Asn	p.K151N	ENST00000356920	NM_001083538.1	151	aaA/aaT	0	1	1	UPI0000F58EC8	0	getma.org/pdb.php?prot=POTEE_HUMAN&from=143&to=236&var=K151N	ENST00000356920		ENSG00000188219	33895		201	-0.69		HGNC	p.K151N		POTEE		SNV							ENST00000356920	protein_coding	getma.org/?cm=var&var=hg19,2,131976428,A,T&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		K/N		T	neutral	547/4031		getma.org/?cm=msa&ty=f&p=POTEE_HUMAN&rb=143&re=236&var=K151N	deleterious_low_confidence(0)				YES	POTEE,missense_variant,p.Lys151Asn,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Lys151Asn,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;							MODERATE	453/3228	K151N	POTEE_HUMAN			Transcript		possibly_damaging(0.728)	.	ENSP00000439189		CCDS46414.1			1	
PRRC2C	0	LGGM	GRCh37	1	171491323	171491323	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	16	.	.	ENST00000338920.4:c.752A>T	p.Gln251Leu	p.Q251L	ENST00000338920	NM_015172.3	251	cAa/cTa	0	1	1	UPI0000E265EC	0	NA	ENST00000338920		ENSG00000117523	24903		68	1.39		HGNC	p.Q251L		PRRC2C		SNV							ENST00000426496	protein_coding	getma.org/?cm=var&var=hg19,1,171491323,A,T&fts=all		hmmpanther:PTHR14038,hmmpanther:PTHR14038:SF6		Q/L		T	low	989/10355		getma.org/?cm=msa&ty=f&p=PRC2C_HUMAN&rb=165&re=364&var=Q251L					YES	PRRC2C,missense_variant,p.Gln253Leu,ENST00000367742,;PRRC2C,missense_variant,p.Gln251Leu,ENST00000338920,NM_015172.3;PRRC2C,missense_variant,p.Gln253Leu,ENST00000392078,;PRRC2C,missense_variant,p.Gln251Leu,ENST00000426496,;RNU6-773P,upstream_gene_variant,,ENST00000364256,;PRRC2C,non_coding_transcript_exon_variant,,ENST00000476522,;PRRC2C,upstream_gene_variant,,ENST00000480806,;PRRC2C,upstream_gene_variant,,ENST00000470689,;							MODERATE	752/8454	Q251L	PRC2C_HUMAN			Transcript		unknown(0)	.	ENSP00000343629		CCDS1296.2			1	
HSD17B12	0	LGGM	GRCh37	11	43852533	43852533	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	57	16	.	.	ENST00000278353.4:c.509A>T	p.Gln170Leu	p.Q170L	ENST00000278353	NM_016142.2	170	cAa/cTa	0	1	1	UPI000004C79B	0	getma.org/pdb.php?prot=DHB12_HUMAN&from=51&to=221&var=Q170L	ENST00000278353		ENSG00000149084	18646		73	2.005		HGNC	p.Q170L		HSD17B12		SNV							ENST00000278353	protein_coding	getma.org/?cm=var&var=hg19,11,43852533,A,T&fts=all		hmmpanther:PTHR24316:SF261,hmmpanther:PTHR24316,Gene3D:3.40.50.720,Pfam_domain:PF00106,PIRSF_domain:PIRSF000126,Superfamily_domains:SSF51735		Q/L		T	medium	628/2420		getma.org/?cm=msa&ty=f&p=DHB12_HUMAN&rb=51&re=221&var=Q170L	deleterious(0.05)	B4DWS6_HUMAN			YES	HSD17B12,missense_variant,p.Gln170Leu,ENST00000278353,NM_016142.2;HSD17B12,missense_variant,p.Gln129Leu,ENST00000531185,;RP11-613D13.5,non_coding_transcript_exon_variant,,ENST00000499066,;RP11-613D13.5,downstream_gene_variant,,ENST00000524643,;RP11-613D13.5,downstream_gene_variant,,ENST00000530450,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000529261,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000532864,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000527213,;HSD17B12,upstream_gene_variant,,ENST00000533802,;HSD17B12,non_coding_transcript_exon_variant,,ENST00000533090,;							MODERATE	509/939	Q170L	DHB12_HUMAN			Transcript		benign(0.003)	.	ENSP00000278353		CCDS7905.1			1	
GON4L	0	LGGM	GRCh37	1	155735605	155735605	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	16	.	.	ENST00000437809.1:c.3659C>T	p.Thr1220Ile	p.T1220I	ENST00000437809		1220	aCc/aTc	0	1		UPI0000351551	0	NA	ENST00000368331		ENSG00000116580	25973		59	0.84		HGNC	p.T1220I		GON4L		SNV							ENST00000271883	protein_coding	getma.org/?cm=var&var=hg19,1,155735605,G,A&fts=all		hmmpanther:PTHR16088:SF10,hmmpanther:PTHR16088		T/I		A	low	3708/7640		getma.org/?cm=msa&ty=f&p=GON4L_HUMAN&rb=260&re=1579&var=T1220I	tolerated_low_confidence(0.1)					GON4L,missense_variant,p.Thr1220Ile,ENST00000437809,;GON4L,missense_variant,p.Thr1220Ile,ENST00000368331,NM_001037533.1,NM_001282858.1,NM_001282856.1,NM_001282860.1;GON4L,missense_variant,p.Thr1220Ile,ENST00000271883,;GON4L,missense_variant,p.Thr1220Ile,ENST00000361040,NM_032292.4,NM_001282861.1;GON4L,non_coding_transcript_exon_variant,,ENST00000471341,;GON4L,non_coding_transcript_exon_variant,,ENST00000497369,;GON4L,downstream_gene_variant,,ENST00000490801,;GON4L,downstream_gene_variant,,ENST00000496021,;							MODERATE	3659/6726	T1220I	GON4L_HUMAN			Transcript		benign(0.01)	.	ENSP00000357315		CCDS60296.1			1	
OSBPL1A	0	LGGM	GRCh37	18	21745088	21745088	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	16	.	.	ENST00000319481.3:c.2691G>A	p.Glu897=	p.E897=	ENST00000319481	NM_080597.3	897	gaG/gaA	0	1	1	UPI0000130E95	0		ENST00000319481		ENSG00000141447	16398		75			HGNC	p.E384E		OSBPL1A		SNV							ENST00000399443	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10972,hmmpanther:PTHR10972:SF53,Pfam_domain:PF01237,Superfamily_domains:0051579		E		T		2898/4195				Q96IZ3_HUMAN,Q6GSK5_HUMAN,B0YJ56_HUMAN			YES	OSBPL1A,synonymous_variant,p.=,ENST00000319481,NM_080597.3;OSBPL1A,synonymous_variant,p.=,ENST00000399443,NM_018030.4;OSBPL1A,synonymous_variant,p.=,ENST00000357041,NM_001242508.1;OSBPL1A,synonymous_variant,p.=,ENST00000578013,;CABYR,downstream_gene_variant,,ENST00000399496,NM_012189.3,NM_153769.2;CABYR,downstream_gene_variant,,ENST00000399499,NM_138644.2;CABYR,downstream_gene_variant,,ENST00000581397,;CABYR,downstream_gene_variant,,ENST00000327201,NM_138643.2;CABYR,downstream_gene_variant,,ENST00000415309,NM_153770.2;RP11-799B12.4,upstream_gene_variant,,ENST00000583267,;CABYR,downstream_gene_variant,,ENST00000486759,NM_153768.2;CABYR,downstream_gene_variant,,ENST00000463087,;CABYR,downstream_gene_variant,,ENST00000582229,;							LOW	2691/2853		OSBL1_HUMAN			Transcript			.	ENSP00000320291		CCDS11884.1			1	
TEX14	0	LGGM	GRCh37	17	56676767	56676767	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	16	.	.	ENST00000240361.8:c.1957G>T	p.Glu653Ter	p.E653*	ENST00000240361		653	Gag/Tag	0	1	1	UPI0000DAC9CA	0	NA	ENST00000240361		ENSG00000121101	11737		65	0		HGNC	p.E653X		TEX14		SNV							ENST00000240361	protein_coding	getma.org/?cm=var&var=hg19,17,56676767,C,A&fts=all		hmmpanther:PTHR23060		E/*		A	NA	2043/4911		NA					YES	TEX14,stop_gained,p.Glu647Ter,ENST00000389934,NM_198393.3,NM_001201457.1;TEX14,stop_gained,p.Glu653Ter,ENST00000240361,;TEX14,stop_gained,p.Glu647Ter,ENST00000349033,NM_031272.4;TEX14,3_prime_UTR_variant,,ENST00000582740,;							HIGH	1957/4494	E653*	TEX14_HUMAN			Transcript			.	ENSP00000240361		CCDS56042.1			1	
BRINP1	0	LGGM	GRCh37	9	121929426	121929426	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	16	.	.	ENST00000265922.3:c.2222C>T	p.Ala741Val	p.A741V	ENST00000265922	NM_014618.2	741	gCc/gTc	0	1	1	UPI000013D6A7	0	NA	ENST00000265922		ENSG00000078725	2687		68	1.525		HGNC	p.A741V		BRINP1		SNV							ENST00000373969	protein_coding	getma.org/?cm=var&var=hg19,9,121929426,G,A&fts=all		hmmpanther:PTHR15564,hmmpanther:PTHR15564:SF7		A/V		A	low	2684/3202		getma.org/?cm=msa&ty=f&p=DBC1_HUMAN&rb=601&re=761&var=A741V	deleterious(0)	B4DE75_HUMAN			YES	BRINP1,missense_variant,p.Ala741Val,ENST00000265922,NM_014618.2;BRINP1,intron_variant,,ENST00000482797,;							MODERATE	2222/2286	A741V	BRNP1_HUMAN			Transcript		probably_damaging(0.935)	.	ENSP00000265922		CCDS6822.1			1	
DIO2	0	LGGM	GRCh37	14	80669334	80669334	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	71	16	.	.	ENST00000555750.1:c.628G>A	p.Gly210Arg	p.G210R	ENST00000555750	NM_001007023.3	210	Ggg/Agg	0	1		UPI0000161B1B	0	NA	ENST00000438257		ENSG00000211448	2884		87	2.19		HGNC	p.R48R		DIO2		SNV							ENST00000557125	protein_coding	getma.org/?cm=var&var=hg19,14,80669334,C,T&fts=all		Superfamily_domains:SSF52833,PIRSF_domain:PIRSF001330,Gene3D:3.40.30.10,Pfam_domain:PF00837,hmmpanther:PTHR11781:SF3,hmmpanther:PTHR11781		G/R		T	medium	675/6136		getma.org/?cm=msa&ty=f&p=IOD2_HUMAN&rb=4&re=262&var=G174R	tolerated(0.11)	Q9NZL0_HUMAN,Q9C0K2_HUMAN,G3V3A8_HUMAN,A8K845_HUMAN				DIO2,missense_variant,p.Gly174Arg,ENST00000557010,NM_000793.5,NM_001242503.1,NM_001242502.1;DIO2,missense_variant,p.Gly174Arg,ENST00000438257,NM_013989.4,NM_001242503.1,NM_001242502.1;DIO2,missense_variant,p.Gly210Arg,ENST00000555750,NM_001007023.3;DIO2,synonymous_variant,p.=,ENST00000557125,;DIO2,3_prime_UTR_variant,,ENST00000422005,;DIO2,3_prime_UTR_variant,,ENST00000556811,;DIO2,3_prime_UTR_variant,,ENST00000555844,;							MODERATE	520/822	G174R	IOD2_HUMAN			Transcript		benign(0.031)	.	ENSP00000405854		CCDS45146.1			1	
PPAP2B	0	LGGM	GRCh37	1	56990079	56990079	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	16	.	.	ENST00000371250.3:c.445G>A	p.Val149Met	p.V149M	ENST00000371250	NM_003713.4	149	Gtg/Atg	0	1	1	UPI000006F261	0	NA	ENST00000371250		ENSG00000162407	9229		78	1.31		HGNC	p.V149M		PPAP2B		SNV							ENST00000371250	protein_coding	getma.org/?cm=var&var=hg19,1,56990079,C,T&fts=all		hmmpanther:PTHR10165:SF79,hmmpanther:PTHR10165,Gene3D:1.20.144.10,Pfam_domain:PF01569,SMART_domains:SM00014,Superfamily_domains:SSF48317		V/M		T	low	997/3292		getma.org/?cm=msa&ty=f&p=LPP3_HUMAN&rb=129&re=279&var=V149M	deleterious(0.01)				YES	PPAP2B,missense_variant,p.Val149Met,ENST00000371250,NM_003713.4;PPAP2B,non_coding_transcript_exon_variant,,ENST00000461655,;							MODERATE	445/936	V149M	LPP3_HUMAN			Transcript		possibly_damaging(0.588)	.	ENSP00000360296		CCDS604.1			1	
OR2G6	0	LGGM	GRCh37	1	248684987	248684987	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	16	.	.	ENST00000343414.4:c.40C>T	p.Leu14Phe	p.L14F	ENST00000343414	NM_001013355.1	14	Ctc/Ttc	0	1	1	UPI0000237253	0	NA	ENST00000343414		ENSG00000188558	27019		81	2.59		HGNC	p.L14F	COSM229913	OR2G6		SNV						1	ENST00000343414	protein_coding	getma.org/?cm=var&var=hg19,1,248684987,C,T&fts=all		hmmpanther:PTHR26453:SF226,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L/F		T	medium	72/1049		getma.org/?cm=msa&ty=f&p=OR2G6_HUMAN&rb=1&re=138&var=L14F	deleterious(0)				YES	OR2G6,missense_variant,p.Leu14Phe,ENST00000343414,NM_001013355.1;					1		MODERATE	40/951	L14F	OR2G6_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000341291		CCDS31119.1			1	
SPARCL1	0	LGGM	GRCh37	4	88394928	88394928	+	stop_retained_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	16	.	.	ENST00000418378.1:c.1994G>A	p.Ter665=	p.*665=	ENST00000418378	NM_001128310.1	665	tGa/tAa	0	1		UPI000013DCE3	0		ENST00000282470		ENSG00000152583	11220		82			HGNC	p.X540X		SPARCL1		SNV							ENST00000503414	protein_coding					*		T		2465/2906				F5H4Y3_HUMAN,F5H331_HUMAN,E9PC64_HUMAN,E7EU82_HUMAN,D6RA29_HUMAN,C9JJR8_HUMAN,B4E2Z0_HUMAN				SPARCL1,stop_retained_variant,p.=,ENST00000418378,NM_001128310.1;SPARCL1,stop_retained_variant,p.=,ENST00000282470,NM_004684.4;SPARCL1,stop_retained_variant,p.=,ENST00000503414,;							LOW	1994/1995		SPRL1_HUMAN			Transcript			.	ENSP00000282470		CCDS3622.1			1	
MED17	0	LGGM	GRCh37	11	93542990	93542990	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	16	.	.	ENST00000251871.3:c.1692T>C	p.Gly564=	p.G564=	ENST00000251871	NM_004268.4	564	ggT/ggC	0	1	1	UPI000013CD1D	0		ENST00000251871		ENSG00000042429	2375		75			HGNC	p.G564G		MED17		SNV			1				ENST00000251871	protein_coding			hmmpanther:PTHR13114		G		C		1979/4874				E9PJZ4_HUMAN			YES	MED17,synonymous_variant,p.=,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,;							LOW	1692/1956		MED17_HUMAN			Transcript			.	ENSP00000251871		CCDS8295.1			1	
RTN1	0	LGGM	GRCh37	14	60097194	60097194	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	83	16	.	.	ENST00000267484.5:c.1766-22984G>A		*589*	ENST00000267484	NM_021136.2			0	1	1	UPI00001352DA	0	NA	ENST00000267484		ENSG00000139970	10467		99	0.695		HGNC	p.D11N		RTN1		SNV							ENST00000342503	protein_coding	getma.org/?cm=var&var=hg19,14,60097194,C,T&fts=all						T	neutral	-/3435		getma.org/?cm=msa&ty=f&p=A8K3B9_HUMAN&rb=1&re=50&var=D11N		Q2NKQ5_HUMAN,Q2L7A7_HUMAN			YES	RTN1,missense_variant,p.Asp11Asn,ENST00000342503,NM_206852.2;RTN1,5_prime_UTR_variant,,ENST00000395090,;RTN1,intron_variant,,ENST00000267484,NM_021136.2;RTN1,non_coding_transcript_exon_variant,,ENST00000557422,;RTN1,intron_variant,,ENST00000432103,;							MODIFIER	-/2331	D11N	RTN1_HUMAN			Transcript			.	ENSP00000267484		CCDS9740.1			1	
WDR59	0	LGGM	GRCh37	16	74951897	74951897	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	56	16	.	.	ENST00000262144.6:c.896A>G	p.Asp299Gly	p.D299G	ENST00000262144	NM_030581.3	299	gAc/gGc	0	1	1	UPI000019839C	0	NA	ENST00000262144		ENSG00000103091	25706		72	2.25		HGNC	p.D299G		WDR59		SNV							ENST00000262144	protein_coding	getma.org/?cm=var&var=hg19,16,74951897,T,C&fts=all		PROSITE_profiles:PS50294,hmmpanther:PTHR22850,hmmpanther:PTHR22850:SF96,Pfam_domain:PF00400,Gene3D:2.130.10.10,SMART_domains:SM00320,Superfamily_domains:SSF50978		D/G		C	medium	1027/3695		getma.org/?cm=msa&ty=f&p=WDR59_HUMAN&rb=272&re=315&var=D299G	deleterious(0)	H3BUE9_HUMAN,H3BR95_HUMAN			YES	WDR59,missense_variant,p.Asp299Gly,ENST00000262144,NM_030581.3;WDR59,upstream_gene_variant,,ENST00000562854,;WDR59,non_coding_transcript_exon_variant,,ENST00000536050,;WDR59,non_coding_transcript_exon_variant,,ENST00000569549,;WDR59,non_coding_transcript_exon_variant,,ENST00000561717,;WDR59,upstream_gene_variant,,ENST00000562371,;WDR59,upstream_gene_variant,,ENST00000562539,;							MODERATE	896/2925	D299G	WDR59_HUMAN			Transcript		possibly_damaging(0.799)	.	ENSP00000262144		CCDS32488.1			1	
NQO2	0	LGGM	GRCh37	6	3019809	3019809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	16	.	.	ENST00000338130.2:c.616G>A	p.Ala206Thr	p.A206T	ENST00000338130		206	Gct/Act	0	1	1	UPI000020E40D	0	getma.org/pdb.php?prot=NQO2_HUMAN&from=4&to=212&var=A206T	ENST00000338130		ENSG00000124588	7856		66	1.37		HGNC	p.A206T		NQO2		SNV							ENST00000380455	protein_coding	getma.org/?cm=var&var=hg19,6,3019809,G,A&fts=all		Superfamily_domains:SSF52218,Pfam_domain:PF02525,Gene3D:3.40.50.360,hmmpanther:PTHR10204,hmmpanther:PTHR10204:SF33		A/T		A	low	1328/1515		getma.org/?cm=msa&ty=f&p=NQO2_HUMAN&rb=4&re=212&var=A206T	tolerated(0.25)	Q5TD05_HUMAN,A2A2U4_HUMAN			YES	NQO2,missense_variant,p.Ala206Thr,ENST00000338130,;NQO2,missense_variant,p.Ala206Thr,ENST00000380430,;NQO2,missense_variant,p.Ala168Thr,ENST00000380441,;NQO2,missense_variant,p.Ala206Thr,ENST00000380455,NM_000904.3;NQO2,missense_variant,p.Ala168Thr,ENST00000380454,;NQO2,downstream_gene_variant,,ENST00000397717,;NQO2,downstream_gene_variant,,ENST00000380472,;RP1-90J20.12,upstream_gene_variant,,ENST00000603222,;HTATSF1P2,downstream_gene_variant,,ENST00000604204,;							MODERATE	616/696	A206T	NQO2_HUMAN			Transcript		benign(0.003)	.	ENSP00000337773		CCDS4481.1			1	
DDX43	0	LGGM	GRCh37	6	74117264	74117264	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	124	16	.	.	ENST00000370336.4:c.963T>A	p.Val321=	p.V321=	ENST00000370336	NM_018665.2	321	gtT/gtA	0	1	1	UPI000013CA60	0		ENST00000370336		ENSG00000080007	18677		140			HGNC	p.V321V		DDX43		SNV							ENST00000370336	protein_coding			Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00270,hmmpanther:PTHR24031:SF225,hmmpanther:PTHR24031,PROSITE_profiles:PS51192		V		A		1121/2513							YES	DDX43,synonymous_variant,p.=,ENST00000370336,NM_018665.2;DDX43,3_prime_UTR_variant,,ENST00000539829,;DDX43,non_coding_transcript_exon_variant,,ENST00000479773,;							LOW	963/1947		DDX43_HUMAN			Transcript			.	ENSP00000359361		CCDS4977.1			1	
EML6	0	LGGM	GRCh37	2	55181199	55181199	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	64	16	.	.	ENST00000356458.6:c.4392G>A	p.Gly1464=	p.G1464=	ENST00000356458	NM_001039753.2	1464	ggG/ggA	0	1	1	UPI00006C0432	0		ENST00000356458		ENSG00000214595	35412		80			HGNC	p.G1464G		EML6		SNV							ENST00000356458	protein_coding			Gene3D:2.130.10.10,PROSITE_profiles:PS50294,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF8,SMART_domains:SM00320,Superfamily_domains:SSF50998		G		A		4912/8320							YES	EML6,synonymous_variant,p.=,ENST00000356458,NM_001039753.2;EML6,non_coding_transcript_exon_variant,,ENST00000490828,;EML6,non_coding_transcript_exon_variant,,ENST00000481376,;							LOW	4392/5877		EMAL6_HUMAN			Transcript			.	ENSP00000348842		CCDS46286.1			1	
GARIN4	0	LGGM	GRCh37	1	212798921	212798921	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	16	.	.	ENST00000294829.3:c.702C>T	p.Thr234=	p.T234=	ENST00000294829	NM_153606.3	234	acC/acT	0	1	1	UPI000013E1C2	0		ENST00000294829		ENSG00000162771	26541		83			HGNC	p.T234T		FAM71A		SNV							ENST00000294829	protein_coding			hmmpanther:PTHR22574:SF9,hmmpanther:PTHR22574		T		T		1133/2332							YES	FAM71A,synonymous_variant,p.=,ENST00000294829,NM_153606.3;ATF3,downstream_gene_variant,,ENST00000341491,NM_001040619.2,NM_001674.3,NM_001206488.2;ATF3,downstream_gene_variant,,ENST00000366987,NM_001030287.3;RP11-338C15.5,non_coding_transcript_exon_variant,,ENST00000427949,;ATF3,downstream_gene_variant,,ENST00000492118,;							LOW	702/1785		FA71A_HUMAN			Transcript			.	ENSP00000294829		CCDS1507.1			1	
IL31RA	0	LGGM	GRCh37	5	55212479	55212479	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	17	.	.	ENST00000447346.2:c.1826T>A	p.Leu609Gln	p.L609Q	ENST00000447346	NM_001242636.1	609	cTa/cAa	0	1	1	UPI00001A41DC	0	NA	ENST00000447346		ENSG00000164509	18969		68	1.95		HGNC	p.L609Q	COSM593022	IL31RA		SNV			1			1	ENST00000447346	protein_coding	getma.org/?cm=var&var=hg19,5,55212479,T,A&fts=all		hmmpanther:PTHR23036:SF83,hmmpanther:PTHR23036		L/Q		A	medium	1891/2577		getma.org/?cm=msa&ty=f&p=IL31R_HUMAN&rb=508&re=707&var=L577Q	tolerated(0.07)				YES	IL31RA,missense_variant,p.Leu590Gln,ENST00000396834,NM_001242638.1;IL31RA,missense_variant,p.Leu609Gln,ENST00000447346,NM_001242636.1,NM_139017.5;IL31RA,missense_variant,p.Leu609Gln,ENST00000359040,NM_001242637.1;IL31RA,missense_variant,p.Leu467Gln,ENST00000490985,NM_001242639.1;IL31RA,missense_variant,p.Leu590Gln,ENST00000354961,;					1		MODERATE	1826/2295	L577Q	IL31R_HUMAN			Transcript		benign(0.228)	.	ENSP00000415900		CCDS3970.2			1	
COL9A1	0	LGGM	GRCh37	6	70961875	70961875	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	17	.	.	ENST00000357250.6:c.1820G>A	p.Gly607Asp	p.G607D	ENST00000357250	NM_001851.4	607	gGc/gAc	0	1	1	UPI000020D14B	0	NA	ENST00000357250		ENSG00000112280	2217		61	4.555		HGNC	p.G364D		COL9A1		SNV			1				ENST00000370499	protein_coding	getma.org/?cm=var&var=hg19,6,70961875,C,T&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454,Low_complexity_(Seg):seg		G/D		T	high	1979/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=586&re=667&var=G607D					YES	COL9A1,missense_variant,p.Gly607Asp,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Gly364Asp,ENST00000320755,NM_078485.3;COL9A1,missense_variant,p.Gly364Asp,ENST00000370499,;COL9A1,splice_region_variant,,ENST00000489611,;COL9A1,splice_region_variant,,ENST00000360859,;COL9A1,splice_region_variant,,ENST00000447041,;COL9A1,splice_region_variant,,ENST00000493682,;COL9A1,splice_region_variant,,ENST00000489861,;							MODERATE	1820/2766	G607D	CO9A1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349790		CCDS4971.1			1	
SSTR2	0	LGGM	GRCh37	17	71166350	71166350	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	17	.	.	ENST00000357585.2:c.892G>A	p.Val298Met	p.V298M	ENST00000357585	NM_001050.2	298	Gtg/Atg	0	1	1	UPI0000000808	0	getma.org/pdb.php?prot=SSR2_HUMAN&from=60&to=312&var=V298M	ENST00000357585		ENSG00000180616	11331		57	2.65		HGNC	p.V298M		SSTR2		SNV							ENST00000315332	protein_coding	getma.org/?cm=var&var=hg19,17,71166350,G,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR24229,hmmpanther:PTHR24229:SF6,Gene3D:1.20.1070.10,Pfam_domain:PF00001,Superfamily_domains:SSF81321,Prints_domain:PR00237		V/M		A	medium	1261/2096		getma.org/?cm=msa&ty=f&p=SSR2_HUMAN&rb=60&re=312&var=V298M	deleterious(0)				YES	SSTR2,missense_variant,p.Val298Met,ENST00000357585,NM_001050.2;SSTR2,missense_variant,p.Val298Met,ENST00000315332,;RP11-143K11.5,intron_variant,,ENST00000580671,;SSTR2,downstream_gene_variant,,ENST00000579323,;							MODERATE	892/1110	V298M	SSR2_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000350198		CCDS11691.1			1	
ZNF716	0	LGGM	GRCh37	7	57528935	57528935	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	17	.	.	ENST00000420713.1:c.768T>A	p.Leu256=	p.L256=	ENST00000420713	NM_001159279.1	256	ctT/ctA	0	1	1	UPI00004192FD	0		ENST00000420713		ENSG00000182111	32458		61			HGNC	p.L256L		ZNF716		SNV							ENST00000420713	protein_coding			Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF100,SMART_domains:SM00355,Superfamily_domains:SSF57667		L		A		880/5197							YES	ZNF716,synonymous_variant,p.=,ENST00000420713,NM_001159279.1;							LOW	768/1488		ZN716_HUMAN			Transcript			.	ENSP00000394248		CCDS55112.1			1	
GAS2	0	LGGM	GRCh37	11	22707240	22707240	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	61	17	.	.	ENST00000454584.2:c.172A>G	p.Met58Val	p.M58V	ENST00000454584	NM_001143830.1	58	Atg/Gtg	0	1		UPI000000D98C	0	getma.org/pdb.php?prot=GAS2_HUMAN&from=37&to=157&var=M58V	ENST00000278187		ENSG00000148935	4167		78	2.08		HGNC	p.M58V		GAS2		SNV							ENST00000524701	protein_coding	getma.org/?cm=var&var=hg19,11,22707240,A,G&fts=all		PROSITE_profiles:PS50021,hmmpanther:PTHR25069,hmmpanther:PTHR25069:SF114,Gene3D:1.10.418.10,Pfam_domain:PF00307,SMART_domains:SM00033,Superfamily_domains:SSF47576		M/V		G	medium	420/2170		getma.org/?cm=msa&ty=f&p=GAS2_HUMAN&rb=37&re=157&var=M58V	deleterious(0)	E9PRR5_HUMAN,E9PQ74_HUMAN,E9PQ37_HUMAN,E9PM28_HUMAN				GAS2,missense_variant,p.Met58Val,ENST00000454584,NM_001143830.1;GAS2,missense_variant,p.Met58Val,ENST00000278187,NM_177553.2;GAS2,missense_variant,p.Met58Val,ENST00000433790,NM_005256.3;GAS2,missense_variant,p.Met58Val,ENST00000528582,;GAS2,missense_variant,p.Met58Val,ENST00000532398,;GAS2,missense_variant,p.Met58Val,ENST00000534801,;GAS2,missense_variant,p.Met58Val,ENST00000533363,;RNA5SP338,upstream_gene_variant,,ENST00000410495,;GAS2,non_coding_transcript_exon_variant,,ENST00000533092,;GAS2,missense_variant,p.Met58Val,ENST00000524701,;							MODERATE	172/942	M58V	GAS2_HUMAN			Transcript		benign(0.026)	.	ENSP00000278187		CCDS7858.1			1	
ZAN	0	LGGM	GRCh37	7	100350086	100350086	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	248	17	.	.	ENST00000546292.1:c.2358A>C	p.Lys786Asn	p.K786N	ENST00000546292	NM_173059.1	786	aaA/aaC	0	1	1	UPI00004575C6	0	NA	ENST00000546292		ENSG00000146839	12857		265	1.385		HGNC	p.K786N		ZAN		SNV							ENST00000546292	protein_coding	getma.org/?cm=var&var=hg19,7,100350086,A,C&fts=all		Low_complexity_(Seg):seg		K/N		C	low	2506/8375		getma.org/?cm=msa&ty=f&p=ZAN_HUMAN&rb=561&re=999&var=K786N		F5H0T8_HUMAN			YES	ZAN,missense_variant,p.Lys786Asn,ENST00000542585,NM_003386.1;ZAN,missense_variant,p.Lys786Asn,ENST00000538115,;ZAN,missense_variant,p.Lys786Asn,ENST00000546292,NM_173059.1;ZAN,5_prime_UTR_variant,,ENST00000546213,;ZAN,missense_variant,p.Lys786Asn,ENST00000427578,;ZAN,missense_variant,p.Lys786Asn,ENST00000449052,;ZAN,missense_variant,p.Lys786Asn,ENST00000349350,;ZAN,missense_variant,p.Lys786Asn,ENST00000443370,;ZAN,missense_variant,p.Lys786Asn,ENST00000421100,;ZAN,missense_variant,p.Lys786Asn,ENST00000348028,;							MODERATE	2358/8163	K786N				Transcript		unknown(0)	.	ENSP00000445943					1	
CHD8	0	LGGM	GRCh37	14	21894316	21894316	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	83	17	.	.	ENST00000399982.2:c.1687C>T	p.Pro563Ser	p.P563S	ENST00000399982	NM_001170629.1	563	Cct/Tct	0	1	1	UPI00002375B9	0	NA	ENST00000399982		ENSG00000100888	20153		100	0.695		HGNC	p.P563S		CHD8		SNV			1				ENST00000557364	protein_coding	getma.org/?cm=var&var=hg19,14,21894316,G,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF551		P/S		A	neutral	1752/8229		getma.org/?cm=msa&ty=f&p=CHD8_HUMAN&rb=551&re=641&var=P563S	tolerated(0.16)				YES	CHD8,missense_variant,p.Pro563Ser,ENST00000399982,NM_001170629.1;CHD8,missense_variant,p.Pro563Ser,ENST00000557364,;CHD8,missense_variant,p.Pro284Ser,ENST00000430710,NM_020920.3;CHD8,downstream_gene_variant,,ENST00000553622,;CHD8,downstream_gene_variant,,ENST00000553283,;RN7SL650P,downstream_gene_variant,,ENST00000583681,;CHD8,intron_variant,,ENST00000555962,;							MODERATE	1687/7746	P563S	CHD8_HUMAN			Transcript		benign(0.038)	.	ENSP00000382863		CCDS53885.1			1	
DMD	0	LGGM	GRCh37	X	32663269	32663269	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	15	17	.	.	ENST00000357033.4:c.961C>T	p.His321Tyr	p.H321Y	ENST00000357033	NM_004007.2	321	Cat/Tat	0	1	1	UPI000049E111	0	NA	ENST00000357033		ENSG00000198947	2928		32	0.755		HGNC	p.H317Y		DMD		SNV			1				ENST00000378677	protein_coding	getma.org/?cm=var&var=hg19,X,32663269,G,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF261,PIRSF_domain:PIRSF002341		H/Y		A	neutral	1168/13956		getma.org/?cm=msa&ty=f&p=DMD_HUMAN&rb=241&re=338&var=H321Y		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			YES	DMD,missense_variant,p.His321Tyr,ENST00000357033,NM_004007.2,NM_000109.3,NM_004006.2,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.His317Tyr,ENST00000378677,NM_004009.3,NM_004010.3,NM_004014.2,NM_004012.3,NM_004011.3;DMD,missense_variant,p.His313Tyr,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,;							MODERATE	961/11058	H321Y				Transcript		benign(0.149)	.	ENSP00000354923		CCDS14233.1			1	
EPHB3	0	LGGM	GRCh37	3	184299138	184299138	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	17	.	.	ENST00000330394.2:c.2830G>A	p.Glu944Lys	p.E944K	ENST00000330394	NM_004443.3	944	Gag/Aag	0	1	1	UPI0000161C94	0	getma.org/pdb.php?prot=EPHB3_HUMAN&from=923&to=987&var=E944K	ENST00000330394		ENSG00000182580	3394		42	1.85		HGNC	p.E944K		EPHB3		SNV							ENST00000330394	protein_coding	getma.org/?cm=var&var=hg19,3,184299138,G,A&fts=all		Gene3D:1.10.150.50,Pfam_domain:PF00536,PIRSF_domain:PIRSF000666,PROSITE_profiles:PS50105,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF120,SMART_domains:SM00454,Superfamily_domains:SSF47769		E/K		A	low	3282/4236		getma.org/?cm=msa&ty=f&p=EPHB3_HUMAN&rb=923&re=987&var=E944K	deleterious(0)	D3DNT9_HUMAN			YES	EPHB3,missense_variant,p.Glu944Lys,ENST00000330394,NM_004443.3;EIF2B5,intron_variant,,ENST00000444495,;EPHB3,downstream_gene_variant,,ENST00000473079,;EPHB3,downstream_gene_variant,,ENST00000482987,;							MODERATE	2830/2997	E944K	EPHB3_HUMAN			Transcript		possibly_damaging(0.515)	.	ENSP00000332118		CCDS3268.1			1	
SPATA5L1	0	LGGM	GRCh37	15	45707863	45707863	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	17	.	.	ENST00000305560.6:c.1723G>A	p.Ala575Thr	p.A575T	ENST00000305560	NM_024063.2	575	Gcc/Acc	0	1	1	UPI00001AEDF3	0	getma.org/pdb.php?prot=SPA5L_HUMAN&from=501&to=652&var=A575T	ENST00000305560		ENSG00000171763	28762		55	0.47		HGNC	p.A575T		SPATA5L1		SNV							ENST00000531970	protein_coding	getma.org/?cm=var&var=hg19,15,45707863,G,A&fts=all		Gene3D:3.40.50.300,Pfam_domain:PF00004,hmmpanther:PTHR23077,hmmpanther:PTHR23077:SF53,SMART_domains:SM00382,Superfamily_domains:SSF52540		A/T		A	neutral	1822/2570		getma.org/?cm=msa&ty=f&p=SPA5L_HUMAN&rb=501&re=652&var=A575T	tolerated(0.45)				YES	SPATA5L1,missense_variant,p.Ala575Thr,ENST00000305560,NM_024063.2;SPATA5L1,missense_variant,p.Ala575Thr,ENST00000559860,;SPATA5L1,missense_variant,p.Ala80Thr,ENST00000531624,;SPATA5L1,upstream_gene_variant,,ENST00000533841,;SPATA5L1,missense_variant,p.Ala575Thr,ENST00000531970,;SPATA5L1,upstream_gene_variant,,ENST00000533199,;							MODERATE	1723/2262	A575T	SPA5L_HUMAN			Transcript		benign(0.003)	.	ENSP00000305494		CCDS10123.1			1	
FCRLA	0	LGGM	GRCh37	1	161681761	161681761	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	142	17	.	.	ENST00000367959.2:c.606A>T	p.Ser202=	p.S202=	ENST00000367959	NM_001184866.1	202	tcA/tcT	0	1	1	UPI0001D3957E	0		ENST00000367959		ENSG00000132185	18504		159			HGNC	p.S185S		FCRLA		SNV							ENST00000367953	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR11481,hmmpanther:PTHR11481:SF9,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		T		848/2362				A6NC03_HUMAN			YES	FCRLA,synonymous_variant,p.=,ENST00000367959,NM_001184866.1;FCRLA,synonymous_variant,p.=,ENST00000540926,;FCRLA,synonymous_variant,p.=,ENST00000236938,NM_032738.3;FCRLA,synonymous_variant,p.=,ENST00000546024,NM_001184867.1;FCRLA,synonymous_variant,p.=,ENST00000367953,;FCRLA,synonymous_variant,p.=,ENST00000540521,NM_001184870.1;FCRLA,synonymous_variant,p.=,ENST00000367957,NM_001184872.1;FCRLA,synonymous_variant,p.=,ENST00000309691,;FCRLA,synonymous_variant,p.=,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,;							LOW	606/1149					Transcript			.	ENSP00000356936		CCDS53415.1			1	
MNDA	0	LGGM	GRCh37	1	158813882	158813882	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	120	17	.	.	ENST00000368141.4:c.540A>T	p.Ser180=	p.S180=	ENST00000368141	NM_002432.1	180	tcA/tcT	0	1	1	UPI0000001609	0		ENST00000368141		ENSG00000163563	7183		137			HGNC	p.S180S		MNDA		SNV							ENST00000368141	protein_coding			hmmpanther:PTHR12200,hmmpanther:PTHR12200:SF18,Low_complexity_(Seg):seg		S		T		801/1752				Q5VUU6_HUMAN			YES	MNDA,synonymous_variant,p.=,ENST00000368141,NM_002432.1;MNDA,upstream_gene_variant,,ENST00000438394,;MNDA,downstream_gene_variant,,ENST00000491210,;							LOW	540/1224		MNDA_HUMAN			Transcript			.	ENSP00000357123		CCDS1177.1			1	
CSMD3	0	LGGM	GRCh37	8	113314024	113314024	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	17	.	.	ENST00000297405.5:c.8438T>A	p.Leu2813Gln	p.L2813Q	ENST00000297405	NM_198123.1	2813	cTa/cAa	0	1	1	UPI00001E0584	0	NA	ENST00000297405		ENSG00000164796	19291		51	-0.025		HGNC	p.L2644Q		CSMD3		SNV							ENST00000455883	protein_coding	getma.org/?cm=var&var=hg19,8,113314024,A,T&fts=all		Gene3D:2.10.70.10,PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF44,Superfamily_domains:SSF57535		L/Q		T	neutral	8683/13212		getma.org/?cm=msa&ty=f&p=CSMD3_HUMAN&rb=2757&re=2814&var=L2813Q	deleterious(0.02)				YES	CSMD3,missense_variant,p.Leu2813Gln,ENST00000297405,NM_198123.1;CSMD3,missense_variant,p.Leu2773Gln,ENST00000343508,NM_198124.1;CSMD3,missense_variant,p.Leu2743Gln,ENST00000352409,;CSMD3,missense_variant,p.Leu2644Gln,ENST00000455883,NM_052900.2;CSMD3,missense_variant,p.Leu2083Gln,ENST00000339701,;							MODERATE	8438/11124	L2813Q	CSMD3_HUMAN			Transcript		benign(0.147)	.	ENSP00000297405		CCDS6315.1			1	
OR1S2	0	LGGM	GRCh37	11	57970979	57970979	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	17	.	.	ENST00000302592.6:c.675A>T	p.Val225=	p.V225=	ENST00000302592	NM_001004459.1	225	gtA/gtT	0	1	1	UPI0000041D68	0		ENST00000302592		ENSG00000197887	15141		55			HGNC	p.V225V		OR1S2		SNV							ENST00000302592	protein_coding			Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF180,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321,Prints_domain:PR00237		V		A		675/980							YES	OR1S2,synonymous_variant,p.=,ENST00000302592,NM_001004459.1;							LOW	675/978		OR1S2_HUMAN			Transcript			.	ENSP00000305469		CCDS31545.1			1	
SMG1	0	LGGM	GRCh37	16	18852895	18852895	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	106	17	.	.	ENST00000446231.2:c.6688G>A	p.Ala2230Thr	p.A2230T	ENST00000446231		2230	Gca/Aca	0	1	1	UPI00004F8E22	0	NA	ENST00000446231		ENSG00000157106	30045		123	1.67		HGNC	p.A2230T		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18852895,C,T&fts=all		PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Pfam_domain:PF00454,SMART_domains:SM00146		A/T		T	low	7101/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2149&re=2427&var=A2230T	tolerated(0.16)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Ala2230Thr,ENST00000446231,;SMG1,missense_variant,p.Ala2230Thr,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Ala2120Thr,ENST00000565324,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;							MODERATE	6688/10986	A2230T	SMG1_HUMAN			Transcript		benign(0.426)	.	ENSP00000402515		CCDS45430.1			1	
NAV1	0	LGGM	GRCh37	1	201751617	201751617	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	17	.	.	ENST00000367296.4:c.1977C>T	p.Phe659=	p.F659=	ENST00000367296	NM_020443.4	659	ttC/ttT	0	1	1	UPI00004562D4	0		ENST00000367296		ENSG00000134369	15989		76			HGNC	p.F659F		NAV1		SNV							ENST00000295624	protein_coding			hmmpanther:PTHR12784,hmmpanther:PTHR12784:SF3		F		T		2397/13091							YES	NAV1,synonymous_variant,p.=,ENST00000367296,NM_020443.4;NAV1,synonymous_variant,p.=,ENST00000295624,;NAV1,synonymous_variant,p.=,ENST00000367297,;NAV1,synonymous_variant,p.=,ENST00000367300,;NAV1,synonymous_variant,p.=,ENST00000367295,NM_001167738.1;NAV1,synonymous_variant,p.=,ENST00000367302,;NAV1,synonymous_variant,p.=,ENST00000430015,;NAV1,upstream_gene_variant,,ENST00000438083,;IPO9-AS1,intron_variant,,ENST00000413035,;NAV1,non_coding_transcript_exon_variant,,ENST00000490213,;NAV1,upstream_gene_variant,,ENST00000469130,;NAV1,upstream_gene_variant,,ENST00000477118,;							LOW	1977/5634		NAV1_HUMAN			Transcript			.	ENSP00000356265		CCDS1414.2			1	
TRNT1	0	LGGM	GRCh37	3	3189331	3189331	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	17	.	.	ENST00000251607.6:c.1000A>C	p.Ile334Leu	p.I334L	ENST00000251607	NM_182916.2	334	Att/Ctt	0	1	1	UPI000013CD08	0	getma.org/pdb.php?prot=TRNT1_HUMAN&from=272&to=434&var=I334L	ENST00000251607		ENSG00000072756	17341		51	1.245		HGNC	p.I314L		TRNT1		SNV			1				ENST00000280591	protein_coding	getma.org/?cm=var&var=hg19,3,3189331,A,C&fts=all		Superfamily_domains:SSF81891,hmmpanther:PTHR13734,Gene3D:1.10.3090.10,hmmpanther:PTHR13734:SF5		I/L		C	low	1102/2276		getma.org/?cm=msa&ty=f&p=TRNT1_HUMAN&rb=272&re=434&var=I334L	tolerated(0.66)	C9JRS7_HUMAN			YES	TRNT1,missense_variant,p.Ile334Leu,ENST00000251607,NM_182916.2;TRNT1,missense_variant,p.Ile314Leu,ENST00000280591,;CRBN,downstream_gene_variant,,ENST00000231948,NM_016302.3;CRBN,downstream_gene_variant,,ENST00000432408,NM_001173482.1;CRBN,downstream_gene_variant,,ENST00000424814,;TRNT1,missense_variant,p.Ile334Leu,ENST00000434583,;CRBN,downstream_gene_variant,,ENST00000491834,;CRBN,downstream_gene_variant,,ENST00000488263,;CRBN,downstream_gene_variant,,ENST00000459840,;CRBN,downstream_gene_variant,,ENST00000498442,;							MODERATE	1000/1305	I334L	TRNT1_HUMAN			Transcript		benign(0.001)	.	ENSP00000251607		CCDS2561.2			1	
LSM14B	0	LGGM	GRCh37	20	60699819	60699819	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	17	.	.	ENST00000279068.6:c.274G>A	p.Asp92Asn	p.D92N	ENST00000279068	NM_144703.2	92	Gat/Aat	0	1	1	UPI0000073028	0	NA	ENST00000279068		ENSG00000149657	15887		61	3.38		HGNC	p.D92N		LSM14B		SNV							ENST00000279068	protein_coding	getma.org/?cm=var&var=hg19,20,60699819,G,A&fts=all		Pfam_domain:PF12701,hmmpanther:PTHR13586,hmmpanther:PTHR13586:SF1		D/N		A	medium	434/2548		getma.org/?cm=msa&ty=f&p=LS14B_HUMAN&rb=3&re=100&var=D92N	deleterious(0)				YES	LSM14B,missense_variant,p.Asp92Asn,ENST00000253001,;LSM14B,missense_variant,p.Asp92Asn,ENST00000279068,NM_144703.2;LSM14B,missense_variant,p.Asp92Asn,ENST00000370915,;LSM14B,missense_variant,p.Asp92Asn,ENST00000400318,;LSM14B,missense_variant,p.Asp92Asn,ENST00000279069,;LSM14B,5_prime_UTR_variant,,ENST00000361670,;							MODERATE	274/1158	D92N	LS14B_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000279068		CCDS46626.1			1	
C17orf97	0	LGGM	GRCh37	17	263555	263555	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	17	.	.	ENST00000360127.6:c.921C>T	p.Pro307=	p.P307=	ENST00000360127	NM_001013672.4	307	ccC/ccT	0	1	1	UPI0001AE65CA	0		ENST00000360127		ENSG00000187624	33800		46			HGNC	p.P307P	rs549731401	C17orf97	0.000126	SNV				0.000113			ENST00000360127	protein_coding		T:0.0008			P		T		937/1839	9.62E-05				T:0	T:0	YES	C17orf97,synonymous_variant,p.=,ENST00000360127,NM_001013672.4;C17orf97,intron_variant,,ENST00000491373,;C17orf97,intron_variant,,ENST00000571106,;AC108004.3,intron_variant,,ENST00000466740,;AC108004.3,upstream_gene_variant,,ENST00000599026,;C17orf97,upstream_gene_variant,,ENST00000575151,;	0.00035	T:0.0008					LOW	921/1272		CQ097_HUMAN		T:0.001	Transcript			.	ENSP00000353245	0.000149	CCDS32519.2		T:0.002	1	
TAS2R16	0	LGGM	GRCh37	7	122635127	122635127	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	17	.	.	ENST00000249284.2:c.562C>T	p.Pro188Ser	p.P188S	ENST00000249284	NM_016945.2	188	Cct/Tct	0	1	1	UPI0000038B18	0	NA	ENST00000249284		ENSG00000128519	14921		92	2.9		HGNC	p.P188S	rs771070462	TAS2R16		SNV			1				ENST00000249284	protein_coding	getma.org/?cm=var&var=hg19,7,122635127,G,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11394,Pfam_domain:PF05296,Superfamily_domains:SSF81321		P/S		A	medium	628/996	4.50E-05	getma.org/?cm=msa&ty=f&p=T2R16_HUMAN&rb=1&re=289&var=P188S	deleterious(0)	Q50KN6_HUMAN			YES	TAS2R16,missense_variant,p.Pro188Ser,ENST00000249284,NM_016945.2;							MODERATE	562/876	P188S	T2R16_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000249284	2.47E-05	CCDS5785.1			1	
MUC16	0	LGGM	GRCh37	19	9061823	9061823	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	78	17	.	.	ENST00000397910.4:c.25623T>A	p.Ser8541Arg	p.S8541R	ENST00000397910	NM_024690.2	8541	agT/agA	0	1	1	UPI000065CA24	0	NA	ENST00000397910		ENSG00000181143	15582		95	0.805		HGNC	p.S8541R		MUC16		SNV							ENST00000397910	protein_coding	getma.org/?cm=var&var=hg19,19,9061823,A,T&fts=all				S/R		T	low	25827/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=8425&re=8554&var=S8543R		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Ser8541Arg,ENST00000397910,NM_024690.2;							MODERATE	25623/43524	S8543R				Transcript		unknown(0)	.	ENSP00000381008		CCDS54212.1			1	
TRBV7-7	0	LGGM	GRCh37	7	142120274	142120274	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	17	.	.	ENST00000390377.1:c.48A>T	p.Thr16=	p.T16=	ENST00000390377		16	acA/acT	0	1	1	UPI00001140EC	0		ENST00000390377		ENSG00000253291	12241		80			HGNC	p.T16T		TRBV7-7		SNV							ENST00000390377	TR_V_gene			Cleavage_site_(Signalp):SignalP-noTM,hmmpanther:PTHR23268,hmmpanther:PTHR23268:SF20,Gene3D:2.60.40.10		T		A		48/347				A0A5A0_HUMAN			YES	TRBV7-7,splice_region_variant,p.=,ENST00000390377,;TRBV6-8,downstream_gene_variant,,ENST00000390376,;							LOW	48/347					Transcript			.	ENSP00000374900					1	
HARS2	0	LGGM	GRCh37	5	140076541	140076541	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	144	17	.	.	ENST00000230771.3:c.840A>G	p.Leu280=	p.L280=	ENST00000230771	NM_012208.3	280	ctA/ctG	0	1	1	UPI00001364C4	0		ENST00000230771		ENSG00000112855	4817		161			HGNC	p.L240L		HARS2		SNV			1				ENST00000435019	protein_coding			PROSITE_profiles:PS50862,hmmpanther:PTHR11476:SF4,hmmpanther:PTHR11476,Pfam_domain:PF13393,TIGRFAM_domain:TIGR00442,PIRSF_domain:PIRSF001549,Superfamily_domains:SSF55681		L		G		1063/2483							YES	HARS2,synonymous_variant,p.=,ENST00000230771,NM_012208.3,NM_001278731.1;HARS2,synonymous_variant,p.=,ENST00000435019,;HARS2,synonymous_variant,p.=,ENST00000437649,NM_001278732.1;HARS2,synonymous_variant,p.=,ENST00000432671,;HARS2,synonymous_variant,p.=,ENST00000508522,;HARS2,synonymous_variant,p.=,ENST00000448069,;HARS,upstream_gene_variant,,ENST00000504156,NM_002109.4;ZMAT2,upstream_gene_variant,,ENST00000274712,NM_144723.1;HARS2,downstream_gene_variant,,ENST00000509299,;HARS2,downstream_gene_variant,,ENST00000503873,;ZMAT2,upstream_gene_variant,,ENST00000519913,;HARS2,downstream_gene_variant,,ENST00000502303,;HARS2,downstream_gene_variant,,ENST00000510104,;ZMAT2,upstream_gene_variant,,ENST00000506644,;HARS2,downstream_gene_variant,,ENST00000513688,;HARS2,downstream_gene_variant,,ENST00000511913,;HARS2,downstream_gene_variant,,ENST00000506318,;HARS2,downstream_gene_variant,,ENST00000520095,;HARS2,downstream_gene_variant,,ENST00000513912,;							LOW	840/1521		SYHM_HUMAN			Transcript			.	ENSP00000230771		CCDS4238.1			1	
SYBU	0	LGGM	GRCh37	8	110590234	110590234	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	87	17	.	.	ENST00000422135.1:c.747G>A	p.Arg249=	p.R249=	ENST00000422135	NM_001099744.1	249	agG/agA	0	1		UPI00000407AB	0		ENST00000276646		ENSG00000147642	26011		104			HGNC	p.R254R		SYBU		SNV							ENST00000424158	protein_coding			Pfam_domain:PF15290,hmmpanther:PTHR16208,hmmpanther:PTHR16208:SF4		R		T		905/2870				E9PRT7_HUMAN,E9PQG2_HUMAN,E9PPS4_HUMAN,E9PPC2_HUMAN,E9PN31_HUMAN,E9PLB9_HUMAN,E9PL50_HUMAN,E9PK96_HUMAN,E9PJ11_HUMAN,E9PI48_HUMAN,B3KRD1_HUMAN				SYBU,synonymous_variant,p.=,ENST00000399066,NM_001099756.1;SYBU,synonymous_variant,p.=,ENST00000533895,;SYBU,synonymous_variant,p.=,ENST00000422135,NM_001099744.1;SYBU,synonymous_variant,p.=,ENST00000419099,NM_001099743.1;SYBU,synonymous_variant,p.=,ENST00000433638,NM_017786.5,NM_001099750.1;SYBU,synonymous_variant,p.=,ENST00000440310,NM_001099752.1,NM_001099751.1;SYBU,synonymous_variant,p.=,ENST00000424158,;SYBU,synonymous_variant,p.=,ENST00000528647,;SYBU,synonymous_variant,p.=,ENST00000408908,NM_001099748.1,NM_001099747.1;SYBU,synonymous_variant,p.=,ENST00000446070,;SYBU,synonymous_variant,p.=,ENST00000276646,NM_001099754.1,NM_001099753.1;SYBU,synonymous_variant,p.=,ENST00000408889,NM_001099746.1;SYBU,synonymous_variant,p.=,ENST00000532779,;SYBU,synonymous_variant,p.=,ENST00000529175,;SYBU,synonymous_variant,p.=,ENST00000533065,NM_001099755.1;SYBU,synonymous_variant,p.=,ENST00000528331,NM_001099749.1;SYBU,synonymous_variant,p.=,ENST00000533171,NM_001099745.1;SYBU,synonymous_variant,p.=,ENST00000529690,;SYBU,synonymous_variant,p.=,ENST00000533394,;SYBU,downstream_gene_variant,,ENST00000529190,;SYBU,downstream_gene_variant,,ENST00000532189,;SYBU,downstream_gene_variant,,ENST00000528045,;SYBU,downstream_gene_variant,,ENST00000528569,;SYBU,non_coding_transcript_exon_variant,,ENST00000527707,;SYBU,downstream_gene_variant,,ENST00000527664,;SYBU,3_prime_UTR_variant,,ENST00000532594,;SYBU,downstream_gene_variant,,ENST00000528735,;							LOW	747/1992		SYBU_HUMAN			Transcript			.	ENSP00000276646		CCDS47912.1			1	
PTPN3	0	LGGM	GRCh37	9	112168771	112168771	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	17	.	.	ENST00000374541.2:c.1763G>T	p.Arg588Leu	p.R588L	ENST00000374541	NM_001145368.1	588	cGg/cTg	0	1	1	UPI000013D2D2	0	getma.org/pdb.php?prot=PTN3_HUMAN&from=510&to=595&var=R588L	ENST00000374541		ENSG00000070159	9655		63	0.06		HGNC	p.R56L		PTPN3		SNV			1				ENST00000394827	protein_coding	getma.org/?cm=var&var=hg19,9,112168771,C,A&fts=all		hmmpanther:PTHR19134:SF248,hmmpanther:PTHR19134,Gene3D:2.30.42.10,Pfam_domain:PF00595,PIRSF_domain:PIRSF000927,SMART_domains:SM00228,Superfamily_domains:SSF50156		R/L		A	neutral	1868/6703		getma.org/?cm=msa&ty=f&p=PTN3_HUMAN&rb=510&re=595&var=R588L	tolerated(0.13)	B7Z8K9_HUMAN			YES	PTPN3,missense_variant,p.Arg457Leu,ENST00000412145,NM_001145369.1,NM_001145371.1;PTPN3,missense_variant,p.Arg412Leu,ENST00000446349,NM_001145370.1,NM_001145372.1;PTPN3,missense_variant,p.Arg588Leu,ENST00000374541,NM_001145368.1,NM_002829.3;PTPN3,missense_variant,p.Arg434Leu,ENST00000262539,;PTPN3,missense_variant,p.Arg56Leu,ENST00000394827,;							MODERATE	1763/2742	R588L	PTN3_HUMAN			Transcript		probably_damaging(0.971)	.	ENSP00000363667		CCDS6776.1			1	
ALPK2	0	LGGM	GRCh37	18	56247395	56247395	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	95	17	.	.	ENST00000361673.3:c.613C>T	p.Pro205Ser	p.P205S	ENST00000361673	NM_052947.3	205	Cca/Tca	0	1	1	UPI000022A768	0	NA	ENST00000361673		ENSG00000198796	20565		112	1.04		HGNC	p.P205S		ALPK2		SNV							ENST00000361673	protein_coding	getma.org/?cm=var&var=hg19,18,56247395,G,A&fts=all		hmmpanther:PTHR14187,hmmpanther:PTHR14187:SF6		P/S		A	low	827/7303		getma.org/?cm=msa&ty=f&p=ALPK2_HUMAN&rb=105&re=665&var=P205S	tolerated(0.25)				YES	ALPK2,missense_variant,p.Pro205Ser,ENST00000361673,NM_052947.3;ALPK2,upstream_gene_variant,,ENST00000587399,;ALPK2,upstream_gene_variant,,ENST00000587842,;ALPK2,downstream_gene_variant,,ENST00000590642,;ALPK2,non_coding_transcript_exon_variant,,ENST00000590662,;							MODERATE	613/6513	P205S	ALPK2_HUMAN			Transcript		benign(0.011)	.	ENSP00000354991		CCDS11966.2			1	
SFRP4	0	LGGM	GRCh37	7	37947145	37947145	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	55	17	.	.	ENST00000436072.2:c.977C>T	p.Ala326Val	p.A326V	ENST00000436072	NM_003014.3	326	gCc/gTc	0	1	1	UPI000004ECBF	0	NA	ENST00000436072		ENSG00000106483	10778		72	0.55		HGNC	p.A326V	rs759451084	SFRP4		SNV							ENST00000436072	protein_coding	getma.org/?cm=var&var=hg19,7,37947145,G,A&fts=all		Low_complexity_(Seg):seg		A/V		A	neutral	1355/2957		getma.org/?cm=msa&ty=f&p=SFRP4_HUMAN&rb=290&re=344&var=A326V	tolerated_low_confidence(0.09)				YES	SFRP4,missense_variant,p.Ala326Val,ENST00000436072,NM_003014.3;EPDR1,intron_variant,,ENST00000476620,;SFRP4,downstream_gene_variant,,ENST00000447200,;SFRP4,non_coding_transcript_exon_variant,,ENST00000478975,;	0.000116						MODERATE	977/1041	A326V	SFRP4_HUMAN			Transcript		benign(0.001)	.	ENSP00000410715	8.24E-06	CCDS5453.1			1	
DST	0	LGGM	GRCh37	6	56394247	56394247	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	17	.	.	ENST00000244364.6:c.9725G>T	p.Arg3242Leu	p.R3242L	ENST00000244364	NM_015548.4	3242	cGg/cTg	0	1	1	UPI00001C1577	0	NA	ENST00000244364		ENSG00000151914	1090		92	-0.49		HGNC	p.R5834L		DST		SNV			1				ENST00000370754	protein_coding	getma.org/?cm=var&var=hg19,6,56394247,C,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF38,Gene3D:1.20.58.60,SMART_domains:SM00150,Superfamily_domains:SSF46966		R/L		A	neutral	9933/16742		getma.org/?cm=msa&ty=f&p=DYST_HUMAN&rb=5608&re=5807&var=R5654L		Q86T18_HUMAN			YES	DST,missense_variant,p.Arg5834Leu,ENST00000370754,;DST,missense_variant,p.Arg5656Leu,ENST00000370769,;DST,missense_variant,p.Arg5330Leu,ENST00000446842,;DST,missense_variant,p.Arg3568Leu,ENST00000421834,;DST,missense_variant,p.Arg3242Leu,ENST00000244364,NM_015548.4;DST,splice_region_variant,,ENST00000312431,;DST,intron_variant,,ENST00000361203,;DST,intron_variant,,ENST00000370788,NM_001144769.2,NM_183380.3,NM_001144770.1;DST,splice_region_variant,,ENST00000340834,;							MODERATE	9725/15516	R5654L	DYST_HUMAN			Transcript		benign(0.01)	.	ENSP00000244364		CCDS47443.1			1	
FMNL2	0	LGGM	GRCh37	2	153484812	153484812	+	splice_acceptor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	72	18	.	.	ENST00000288670.9:c.2166-1G>A		p.X722_splice	ENST00000288670	NM_052905.3			0	1	1	UPI0000441EF9	0		ENST00000288670		ENSG00000157827	18267		90			HGNC	-		FMNL2		SNV							ENST00000288670	protein_coding							A		-/5575				B3KT32_HUMAN			YES	FMNL2,splice_acceptor_variant,,ENST00000288670,NM_052905.3;FMNL2,splice_acceptor_variant,,ENST00000475377,;FMNL2,downstream_gene_variant,,ENST00000497192,;							HIGH	2166/3279		FMNL2_HUMAN			Transcript			.	ENSP00000288670		CCDS46429.1			1	
RYR3	0	LGGM	GRCh37	15	33944917	33944917	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	69	18	.	.	ENST00000389232.4:c.4143-2A>T		p.X1381_splice	ENST00000389232	NM_001036.3			0	1	1	UPI0000E5B01A	0		ENST00000389232		ENSG00000198838	10485		87			HGNC	-		RYR3		SNV							ENST00000415757	protein_coding							T		-/15559							YES	RYR3,splice_acceptor_variant,,ENST00000389232,NM_001036.3;RYR3,splice_acceptor_variant,,ENST00000415757,NM_001243996.1;							HIGH	4143/14613		RYR3_HUMAN			Transcript			.	ENSP00000373884		CCDS45210.1			1	
ZNF277	0	LGGM	GRCh37	7	111980982	111980982	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	18	.	.	ENST00000361822.3:c.1065C>T	p.His355=	p.H355=	ENST00000361822	NM_021994.2	355	caC/caT	0	1	1	UPI00000437E2	0		ENST00000361822		ENSG00000198839	13070		93			HGNC	p.H355H		ZNF277		SNV							ENST00000361822	protein_coding			Superfamily_domains:SSF57667,SMART_domains:SM00355,Pfam_domain:PF12756,hmmpanther:PTHR13267,hmmpanther:PTHR13267:SF3,PROSITE_profiles:PS50157		H		T		1194/1849				C9J3B6_HUMAN,A4D0S7_HUMAN			YES	ZNF277,synonymous_variant,p.=,ENST00000361822,NM_021994.2;ZNF277,intron_variant,,ENST00000421864,;ZNF277,downstream_gene_variant,,ENST00000425229,;AC004112.4,intron_variant,,ENST00000431064,;AC004112.4,intron_variant,,ENST00000411413,;ZNF277,3_prime_UTR_variant,,ENST00000361946,;ZNF277,downstream_gene_variant,,ENST00000457808,;							LOW	1065/1353		ZN277_HUMAN			Transcript			.	ENSP00000354501		CCDS5755.2			1	
PDHB	0	LGGM	GRCh37	3	58415859	58415859	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	18	.	.	ENST00000302746.6:c.696G>T	p.Arg232Ser	p.R232S	ENST00000302746	NM_000925.3	232	agG/agT	0	1	1	UPI000013E81D	0	getma.org/pdb.php?prot=ODPB_HUMAN&from=226&to=350&var=R232S	ENST00000302746		ENSG00000168291	8808		56	3.515		HGNC	p.R214S		PDHB		SNV			1				ENST00000474765	protein_coding	getma.org/?cm=var&var=hg19,3,58415859,C,A&fts=all		Gene3D:3.40.50.920,Pfam_domain:PF02780,hmmpanther:PTHR11624,hmmpanther:PTHR11624:SF56,Superfamily_domains:SSF52922		R/S		A	high	739/1527		getma.org/?cm=msa&ty=f&p=ODPB_HUMAN&rb=226&re=350&var=R232S	deleterious(0)				YES	PDHB,missense_variant,p.Arg232Ser,ENST00000302746,NM_000925.3,NM_001173468.1;PDHB,missense_variant,p.Arg214Ser,ENST00000474765,;PDHB,missense_variant,p.Arg214Ser,ENST00000383714,;PDHB,missense_variant,p.Arg214Ser,ENST00000485460,;PXK,downstream_gene_variant,,ENST00000463280,;PXK,downstream_gene_variant,,ENST00000479241,;PXK,downstream_gene_variant,,ENST00000356151,NM_017771.3;PXK,downstream_gene_variant,,ENST00000302779,;PXK,downstream_gene_variant,,ENST00000383716,;PXK,downstream_gene_variant,,ENST00000479134,;PXK,downstream_gene_variant,,ENST00000493474,;RP11-802O23.3,downstream_gene_variant,,ENST00000607214,;PDHB,missense_variant,p.Arg232Ser,ENST00000469364,;PDHB,non_coding_transcript_exon_variant,,ENST00000479945,;PDHB,non_coding_transcript_exon_variant,,ENST00000461692,;PDHB,downstream_gene_variant,,ENST00000480626,;PDHB,downstream_gene_variant,,ENST00000469827,;PDHB,downstream_gene_variant,,ENST00000482894,;							MODERATE	696/1080	R232S	ODPB_HUMAN			Transcript		possibly_damaging(0.889)	.	ENSP00000307241		CCDS2890.1			1	
MRPL22	0	LGGM	GRCh37	5	154336710	154336710	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	72	18	.	.	ENST00000523037.1:c.277A>T	p.Ile93Phe	p.I93F	ENST00000523037	NM_014180.3	93	Att/Ttt	0	1	1	UPI0000046801	0	getma.org/pdb.php?prot=RM22_HUMAN&from=69&to=174&var=I93F	ENST00000523037		ENSG00000082515	14480		90	2.685		HGNC	p.I13F	rs562161879	MRPL22	0.000121	SNV							ENST00000265229	protein_coding	getma.org/?cm=var&var=hg19,5,154336710,A,T&fts=all	T:0	Gene3D:3.90.470.10,Pfam_domain:PF00237,hmmpanther:PTHR13501,Superfamily_domains:SSF54843		I/F		T	medium	318/3176		getma.org/?cm=msa&ty=f&p=RM22_HUMAN&rb=69&re=174&var=I93F	deleterious(0)		T:0	T:0	YES	MRPL22,missense_variant,p.Ile93Phe,ENST00000523037,NM_014180.3;MRPL22,missense_variant,p.Ile99Phe,ENST00000522038,;MRPL22,missense_variant,p.Ile13Phe,ENST00000265229,NM_001014990.2;MRPL22,missense_variant,p.Ile119Phe,ENST00000439747,;MRPL22,upstream_gene_variant,,ENST00000518364,;MRPL22,3_prime_UTR_variant,,ENST00000519059,;MRPL22,non_coding_transcript_exon_variant,,ENST00000520040,;		T:0.0004					MODERATE	277/621	I93F	RM22_HUMAN		T:0	Transcript		probably_damaging(0.983)	.	ENSP00000431040	1.65E-05	CCDS4331.1		T:0.002	1	
PLA2R1	0	LGGM	GRCh37	2	160807915	160807915	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	35	18	.	.	ENST00000283243.7:c.3476C>T	p.Ser1159Phe	p.S1159F	ENST00000283243	NM_001195641.1	1159	tCc/tTc	0	1	1	UPI00001AEA9D	0	getma.org/pdb.php?prot=PLA2R_HUMAN&from=1131&to=1234&var=S1159F	ENST00000283243		ENSG00000153246	9042		53	2.045		HGNC	p.S1159F		PLA2R1		SNV							ENST00000392771	protein_coding	getma.org/?cm=var&var=hg19,2,160807915,G,A&fts=all		PROSITE_profiles:PS50041,hmmpanther:PTHR22803:SF71,hmmpanther:PTHR22803,Pfam_domain:PF00059,Gene3D:3.10.100.10,SMART_domains:SM00034,Superfamily_domains:SSF56436		S/F		A	medium	3683/8526		getma.org/?cm=msa&ty=f&p=PLA2R_HUMAN&rb=1131&re=1234&var=S1159F	deleterious(0)				YES	PLA2R1,missense_variant,p.Ser1159Phe,ENST00000283243,NM_001195641.1,NM_007366.4;PLA2R1,missense_variant,p.Ser1159Phe,ENST00000392771,NM_001007267.2;							MODERATE	3476/4392	S1159F	PLA2R_HUMAN			Transcript		probably_damaging(0.981)	.	ENSP00000283243		CCDS33309.1			1	
LRP2	0	LGGM	GRCh37	2	170135941	170135941	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	77	18	.	.	ENST00000263816.3:c.1506T>C	p.Val502=	p.V502=	ENST00000263816	NM_004525.2	502	gtT/gtC	0	1	1	UPI0000141BA5	0		ENST00000263816		ENSG00000081479	6694		95			HGNC	p.V502V		LRP2		SNV			1				ENST00000443831	protein_coding			PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF220,Gene3D:2.120.10.30,Pfam_domain:PF00058,SMART_domains:SM00135,Superfamily_domains:SSF63825		V		G		1792/15808				Q9NP34_HUMAN,Q53TL0_HUMAN,Q4ZG84_HUMAN			YES	LRP2,synonymous_variant,p.=,ENST00000263816,NM_004525.2;LRP2,synonymous_variant,p.=,ENST00000443831,;LRP2,upstream_gene_variant,,ENST00000493501,;							LOW	1506/13968		LRP2_HUMAN			Transcript			.	ENSP00000263816		CCDS2232.1			1	
GLMN	0	LGGM	GRCh37	1	92737032	92737032	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	18	.	.	ENST00000370360.3:c.913A>T	p.Met305Leu	p.M305L	ENST00000370360	NM_053274.2	305	Atg/Ttg	0	1	1	UPI0000040A53	0	NA	ENST00000370360		ENSG00000174842	14373		99	0.69		HGNC	p.M305L		GLMN		SNV			1				ENST00000495106	protein_coding	getma.org/?cm=var&var=hg19,1,92737032,T,A&fts=all		Pfam_domain:PF08568,hmmpanther:PTHR15430:SF1,hmmpanther:PTHR15430		M/L		A	neutral	995/1995		getma.org/?cm=msa&ty=f&p=GLMN_HUMAN&rb=1&re=561&var=M305L	tolerated(0.73)				YES	GLMN,missense_variant,p.Met305Leu,ENST00000370360,NM_053274.2;GLMN,missense_variant,p.Met305Leu,ENST00000534881,;GLMN,missense_variant,p.Met61Leu,ENST00000495852,;GLMN,missense_variant,p.Met95Leu,ENST00000463560,;GLMN,missense_variant,p.Met305Leu,ENST00000495106,;							MODERATE	913/1785	M305L	GLMN_HUMAN			Transcript		benign(0.002)	.	ENSP00000359385		CCDS738.1			1	
CEP290	0	LGGM	GRCh37	12	88471039	88471039	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	95	18	.	.	ENST00000552810.1:c.5669G>A	p.Gly1890Glu	p.G1890E	ENST00000552810	NM_025114.3	1890	gGa/gAa	0	1	1	UPI0000D60D15	0	NA	ENST00000552810		ENSG00000198707	29021		113	0		HGNC	p.G950E		CEP290		SNV			1				ENST00000547691	protein_coding	getma.org/?cm=var&var=hg19,12,88471039,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18879		G/E		T	neutral	6013/7948		getma.org/?cm=msa&ty=f&p=CE290_HUMAN&rb=1786&re=2419&var=G1890E					YES	CEP290,missense_variant,p.Gly1890Glu,ENST00000552810,NM_025114.3;CEP290,missense_variant,p.Gly1892Glu,ENST00000309041,;CEP290,missense_variant,p.Gly950Glu,ENST00000397838,;CEP290,missense_variant,p.Gly950Glu,ENST00000547691,;							MODERATE	5669/7440	G1890E	CE290_HUMAN			Transcript		benign(0.046)	.	ENSP00000448012		CCDS55858.1			1	
DGKA	0	LGGM	GRCh37	12	56333052	56333052	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	18	.	.	ENST00000331886.5:c.557C>T	p.Thr186Ile	p.T186I	ENST00000331886	NM_001345.4	186	aCc/aTc	0	1	1	UPI000007417B	0	NA	ENST00000331886		ENSG00000065357	2849		59	2.07		HGNC	p.T186I		DGKA		SNV							ENST00000331886	protein_coding	getma.org/?cm=var&var=hg19,12,56333052,C,T&fts=all		Superfamily_domains:SSF57889,SMART_domains:SM00054,hmmpanther:PTHR11255,hmmpanther:PTHR11255:SF38,PROSITE_profiles:PS50222		T/I		T	medium	1011/2909		getma.org/?cm=msa&ty=f&p=DGKA_HUMAN&rb=155&re=190&var=T186I	deleterious(0)	G3V4I3_HUMAN,G3V327_HUMAN,F8W1M3_HUMAN,F8W1H7_HUMAN,F8VWX8_HUMAN,F8VNZ9_HUMAN,C9JM35_HUMAN			YES	DGKA,missense_variant,p.Thr186Ile,ENST00000331886,NM_001345.4;DGKA,missense_variant,p.Thr186Ile,ENST00000394147,NM_201445.1,NM_201444.2,NM_201554.1;DGKA,missense_variant,p.Thr186Ile,ENST00000551156,;DGKA,missense_variant,p.Thr105Ile,ENST00000555218,;DGKA,upstream_gene_variant,,ENST00000552903,;DGKA,downstream_gene_variant,,ENST00000551707,;DGKA,downstream_gene_variant,,ENST00000432422,;DGKA,downstream_gene_variant,,ENST00000555090,;DGKA,downstream_gene_variant,,ENST00000549368,;DGKA,downstream_gene_variant,,ENST00000553783,;DGKA,downstream_gene_variant,,ENST00000546878,;DGKA,downstream_gene_variant,,ENST00000555025,;DGKA,downstream_gene_variant,,ENST00000549629,;DGKA,downstream_gene_variant,,ENST00000547015,;DGKA,downstream_gene_variant,,ENST00000557080,;DGKA,downstream_gene_variant,,ENST00000556001,;DGKA,non_coding_transcript_exon_variant,,ENST00000549079,;DGKA,downstream_gene_variant,,ENST00000549323,;DGKA,downstream_gene_variant,,ENST00000548378,;DGKA,missense_variant,p.Thr186Ile,ENST00000402956,;DGKA,3_prime_UTR_variant,,ENST00000553084,;DGKA,3_prime_UTR_variant,,ENST00000550888,;DGKA,non_coding_transcript_exon_variant,,ENST00000552478,;DGKA,non_coding_transcript_exon_variant,,ENST00000551739,;DGKA,non_coding_transcript_exon_variant,,ENST00000551296,;DGKA,non_coding_transcript_exon_variant,,ENST00000548047,;DGKA,non_coding_transcript_exon_variant,,ENST00000549097,;DGKA,non_coding_transcript_exon_variant,,ENST00000547358,;DGKA,non_coding_transcript_exon_variant,,ENST00000552335,;DGKA,non_coding_transcript_exon_variant,,ENST00000552687,;DGKA,non_coding_transcript_exon_variant,,ENST00000546895,;DGKA,non_coding_transcript_exon_variant,,ENST00000549986,;DGKA,non_coding_transcript_exon_variant,,ENST00000556344,;DGKA,non_coding_transcript_exon_variant,,ENST00000549085,;DGKA,downstream_gene_variant,,ENST00000548407,;DGKA,upstream_gene_variant,,ENST00000552652,;DGKA,upstream_gene_variant,,ENST00000554434,;DGKA,upstream_gene_variant,,ENST00000557180,;DGKA,upstream_gene_variant,,ENST00000551585,;DGKA,downstream_gene_variant,,ENST00000548479,;DGKA,downstream_gene_variant,,ENST00000547324,;DGKA,downstream_gene_variant,,ENST00000546995,;DGKA,downstream_gene_variant,,ENST00000547535,;DGKA,downstream_gene_variant,,ENST00000548549,;DGKA,downstream_gene_variant,,ENST00000551615,;DGKA,upstream_gene_variant,,ENST00000550484,;							MODERATE	557/2208	T186I	DGKA_HUMAN			Transcript		possibly_damaging(0.811)	.	ENSP00000328405		CCDS8896.1			1	
RAD54L2	0	LGGM	GRCh37	3	51696472	51696472	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	18	.	.	ENST00000409535.2:c.3440G>A	p.Ser1147Asn	p.S1147N	ENST00000409535	NM_015106.2	1147	aGc/aAc	0	1	1	UPI000022C0AA	0	NA	ENST00000409535		ENSG00000164080	29123		88	0.345		HGNC	p.S841N		RAD54L2		SNV							ENST00000296477	protein_coding	getma.org/?cm=var&var=hg19,3,51696472,G,A&fts=all		hmmpanther:PTHR10799:SF51,hmmpanther:PTHR10799		S/N		A	neutral	3565/9776		getma.org/?cm=msa&ty=f&p=ARIP4_HUMAN&rb=1055&re=1254&var=S1147N	tolerated_low_confidence(0.08)	E7EU19_HUMAN			YES	RAD54L2,missense_variant,p.Ser1147Asn,ENST00000409535,NM_015106.2;RAD54L2,missense_variant,p.Ser841Asn,ENST00000296477,;RAD54L2,missense_variant,p.Ser976Asn,ENST00000432863,;TEX264,upstream_gene_variant,,ENST00000419358,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000461680,;RAD54L2,non_coding_transcript_exon_variant,,ENST00000487093,;							MODERATE	3440/4404	S1147N	ARIP4_HUMAN			Transcript		possibly_damaging(0.834)	.	ENSP00000386520		CCDS33765.2			1	
PDPR	0	LGGM	GRCh37	16	70190617	70190617	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	166	18	.	.	ENST00000288050.4:c.2475G>A	p.Gly825=	p.G825=	ENST00000288050	NM_017990.3	825	ggG/ggA	0	1	1	UPI00001FF513	0		ENST00000288050		ENSG00000090857	30264		184			HGNC	p.G170G		PDPR		SNV							ENST00000542659	protein_coding			Gene3D:2.40.30.110,Pfam_domain:PF08669,Superfamily_domains:SSF101790		G		A		3432/7999				H3BV59_HUMAN,H3BU60_HUMAN,B7ZAR9_HUMAN,B3KSE1_HUMAN,A8MT40_HUMAN			YES	PDPR,synonymous_variant,p.=,ENST00000288050,NM_017990.3;PDPR,synonymous_variant,p.=,ENST00000568530,;PDPR,synonymous_variant,p.=,ENST00000398122,;PDPR,synonymous_variant,p.=,ENST00000542659,;PDPR,synonymous_variant,p.=,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,;							LOW	2475/2640		PDPR_HUMAN			Transcript			.	ENSP00000288050		CCDS45520.1			1	
SNX29	0	LGGM	GRCh37	16	12571693	12571693	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	91	18	.	.	ENST00000566228.1:c.2155C>T	p.Pro719Ser	p.P719S	ENST00000566228	NM_032167.3	719	Ccc/Tcc	0	1	1	UPI00000382F9	0	getma.org/pdb.php?prot=SNX29_HUMAN&from=656&to=779&var=P719S	ENST00000566228		ENSG00000048471	30542		109	1.91		HGNC	p.P334S		SNX29		SNV							ENST00000306030	protein_coding	getma.org/?cm=var&var=hg19,16,12571693,C,T&fts=all		PROSITE_profiles:PS50195,Gene3D:3.30.1520.10,Pfam_domain:PF00787,SMART_domains:SM00312,Superfamily_domains:SSF64268		P/S		T	medium	2224/8171		getma.org/?cm=msa&ty=f&p=SNX29_HUMAN&rb=656&re=779&var=P719S	deleterious(0)	J3KNF2_HUMAN			YES	SNX29,missense_variant,p.Pro719Ser,ENST00000566228,NM_032167.3;SNX29,missense_variant,p.Pro334Ser,ENST00000306030,;SNX29,missense_variant,p.Pro208Ser,ENST00000564791,;SNX29,missense_variant,p.Pro334Ser,ENST00000323433,;							MODERATE	2155/2442	P719S	SNX29_HUMAN			Transcript		probably_damaging(0.976)	.	ENSP00000456480		CCDS10553.2			1	
ANK2	0	LGGM	GRCh37	4	114280384	114280384	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	18	.	.	ENST00000357077.4:c.10610C>T	p.Pro3537Leu	p.P3537L	ENST00000357077	NM_001148.4	3537	cCc/cTc	0	1	1	UPI0000441EF3	0	NA	ENST00000357077		ENSG00000145362	493		56	1.7		HGNC	p.P3504L		ANK2		SNV			1				ENST00000264366	protein_coding	getma.org/?cm=var&var=hg19,4,114280384,C,T&fts=all		hmmpanther:PTHR24123,hmmpanther:PTHR24123:SF17		P/L		T	low	10663/14196		getma.org/?cm=msa&ty=f&p=ANK2_HUMAN&rb=3537&re=3620&var=P3537L		D6RHC5_HUMAN			YES	ANK2,missense_variant,p.Pro3537Leu,ENST00000357077,NM_001148.4;ANK2,missense_variant,p.Pro3504Leu,ENST00000264366,;ANK2,missense_variant,p.Pro547Leu,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,intron_variant,,ENST00000508007,;							MODERATE	10610/11874	P3537L	ANK2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349588		CCDS3702.1			1	
TTN	0	LGGM	GRCh37	2	179542914	179542914	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	93	18	.	.	ENST00000589042.1:c.33932T>C	p.Leu11311Pro	p.L11311P	ENST00000589042	NM_001267550.1	11311	cTc/cCc	0	1		UPI00025287CD	0	NA	ENST00000591111		ENSG00000155657	12403		111	-1.32		HGNC	p.L10994P		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179542914,A,G&fts=all		Pfam_domain:PF02818,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6		L/P		G	neutral	33206/104301		getma.org/?cm=msa&ty=f&p=A2TKE6_HUMAN&rb=77&re=144&var=L108P		C9JQJ2_HUMAN				TTN,missense_variant,p.Leu11311Pro,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Leu10994Pro,ENST00000591111,;TTN,missense_variant,p.Leu10067Pro,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Leu735Pro,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,;							MODERATE	32981/103053	L108P	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
IGKV6D-21	0	LGGM	GRCh37	2	90060982	90060982	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	18	.	.	ENST00000436451.2:c.329G>A	p.Ser110Asn	p.S110N	ENST00000436451		110	aGt/aAt	0	1	1	UPI0000456DFF	0		ENST00000436451		ENSG00000225523	5837		81			HGNC	p.S110N	rs746085563	IGKV6D-21		SNV							ENST00000436451	IG_V_gene			PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF146,Pfam_domain:PF07686,SMART_domains:SM00409,Superfamily_domains:SSF48726		S/N		A		396/409	1.51E-05		tolerated(0.29)				YES	IGKV6D-21,missense_variant,p.Ser110Asn,ENST00000436451,;							MODERATE	329/342					Transcript		benign(0.006)	.	ENSP00000413304	8.29E-06				1	
CALM2	0	LGGM	GRCh37	2	47389516	47389516	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	18	.	.	ENST00000272298.7:c.194A>G	p.Asp65Gly	p.D65G	ENST00000272298	NM_001743.4	65	gAc/gGc	0	1	1	UPI00000000C1	0		ENST00000272298		ENSG00000143933	1445		71			HGNC	p.D112G		CALM2		SNV			1				ENST00000409563	protein_coding			PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF155,PROSITE_patterns:PS00018,Gene3D:1.10.238.10,Pfam_domain:PF13499,SMART_domains:SM00054,Superfamily_domains:SSF47473,Prints_domain:PR00450		D/G		C		352/1302			deleterious_low_confidence(0.03)	Q96HY3_HUMAN,G3V361_HUMAN,B4DJ51_HUMAN			YES	CALM2,missense_variant,p.Asp65Gly,ENST00000272298,NM_001743.4;CALM2,missense_variant,p.Asp112Gly,ENST00000409563,;CALM2,missense_variant,p.Asp103Gly,ENST00000456319,;CALM2,non_coding_transcript_exon_variant,,ENST00000484408,;CALM2,non_coding_transcript_exon_variant,,ENST00000489742,;CALM2,non_coding_transcript_exon_variant,,ENST00000460218,;CALM2,non_coding_transcript_exon_variant,,ENST00000482532,;CALM2,intron_variant,,ENST00000432899,;RP11-761B3.1,intron_variant,,ENST00000422269,;							MODERATE	194/450		CALM_HUMAN			Transcript		possibly_damaging(0.857)	.	ENSP00000272298		CCDS1832.1			1	
LRRC7	0	LGGM	GRCh37	1	70503893	70503893	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	72	18	.	.	ENST00000035383.5:c.2272C>T	p.Leu758=	p.L758=	ENST00000035383	NM_020794.2	758	Ctg/Ttg	0	1	1	UPI000006F29B	0		ENST00000035383		ENSG00000033122	18531		90			HGNC	p.L42L		LRRC7		SNV							ENST00000415775	protein_coding					L		T		2302/5000							YES	LRRC7,synonymous_variant,p.=,ENST00000310961,;LRRC7,synonymous_variant,p.=,ENST00000035383,NM_020794.2;LRRC7,synonymous_variant,p.=,ENST00000415775,;							LOW	2272/4614		LRRC7_HUMAN			Transcript			.	ENSP00000035383		CCDS645.1			1	
FABP4	0	LGGM	GRCh37	8	82392728	82392728	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	18	.	.	ENST00000256104.4:c.179A>T	p.Asn60Ile	p.N60I	ENST00000256104	NM_001442.2	60	aAt/aTt	0	1	1	UPI000013CEEC	0	getma.org/pdb.php?prot=FABP4_HUMAN&from=6&to=132&var=N60I	ENST00000256104		ENSG00000170323	3559		86	3.04		HGNC	p.N60I		FABP4		SNV							ENST00000256104	protein_coding	getma.org/?cm=var&var=hg19,8,82392728,T,A&fts=all		Superfamily_domains:SSF50814,Gene3D:2.40.128.20,Pfam_domain:PF00061,hmmpanther:PTHR11955:SF71,hmmpanther:PTHR11955		N/I		A	medium	275/941		getma.org/?cm=msa&ty=f&p=FABP4_HUMAN&rb=6&re=132&var=N60I	deleterious(0)	E7DVW4_HUMAN			YES	FABP4,missense_variant,p.Asn60Ile,ENST00000256104,NM_001442.2;RP11-157I4.4,intron_variant,,ENST00000524085,;FABP4,intron_variant,,ENST00000518669,;FABP4,3_prime_UTR_variant,,ENST00000522659,;FABP4,upstream_gene_variant,,ENST00000521734,;							MODERATE	179/399	N60I	FABP4_HUMAN			Transcript		possibly_damaging(0.901)	.	ENSP00000256104		CCDS6230.1			1	
BNC2	0	LGGM	GRCh37	9	16727955	16727955	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	18	.	.	ENST00000380672.4:c.170A>T	p.Gln57Leu	p.Q57L	ENST00000380672	NM_017637.5	57	cAg/cTg	0	1	1	UPI000035E7B0	0	NA	ENST00000380672		ENSG00000173068	30988		70	0		HGNC	p.Q57L		BNC2		SNV							ENST00000484726	protein_coding	getma.org/?cm=var&var=hg19,9,16727955,T,A&fts=all				Q/L		A	neutral	228/12844		getma.org/?cm=msa&ty=f&p=BNC2_HUMAN&rb=1&re=69&var=Q57L	deleterious_low_confidence(0.03)	S4R351_HUMAN,Q06HC7_HUMAN,Q06HC2_HUMAN,Q06HB9_HUMAN,D3DRJ1_HUMAN			YES	BNC2,missense_variant,p.Gln57Leu,ENST00000380672,NM_017637.5;BNC2,missense_variant,p.Gln14Leu,ENST00000418777,;BNC2,missense_variant,p.Gln57Leu,ENST00000380666,;BNC2,missense_variant,p.Gln15Leu,ENST00000486514,;BNC2,missense_variant,p.Gln14Leu,ENST00000468187,;BNC2,5_prime_UTR_variant,,ENST00000603713,;BNC2,5_prime_UTR_variant,,ENST00000603313,;BNC2,intron_variant,,ENST00000380667,;BNC2,intron_variant,,ENST00000545497,;RP11-62F24.2,downstream_gene_variant,,ENST00000450445,;BNC2,missense_variant,p.Gln57Leu,ENST00000484726,;							MODERATE	170/3300	Q57L	BNC2_HUMAN			Transcript		benign(0.001)	.	ENSP00000370047		CCDS6482.2			1	
OR4A15	0	LGGM	GRCh37	11	55136241	55136241	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	107	18	.	.	ENST00000314706.3:c.882C>A	p.Pro294=	p.P294=	ENST00000314706	NM_001005275.1	294	ccC/ccA	0	1	1	UPI000004618F	0		ENST00000314706		ENSG00000181958	15152		125			HGNC	p.P294P	COSM543542	OR4A15		SNV						1	ENST00000314706	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF63,Superfamily_domains:SSF81321		P		A		882/1035							YES	OR4A15,synonymous_variant,p.=,ENST00000314706,NM_001005275.1;					1		LOW	882/1035		O4A15_HUMAN			Transcript			.	ENSP00000325065		CCDS31500.1			1	
GPR63	0	LGGM	GRCh37	6	97247226	97247226	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	18	.	.	ENST00000229955.3:c.382A>G	p.Met128Val	p.M128V	ENST00000229955	NM_030784.3	128	Atg/Gtg	0	1	1	UPI0000037594	0	getma.org/pdb.php?prot=GPR63_HUMAN&from=98&to=371&var=M128V	ENST00000229955		ENSG00000112218	13302		58	0.72		HGNC	p.M128V		GPR63		SNV							ENST00000229955	protein_coding	getma.org/?cm=var&var=hg19,6,97247226,T,C&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24245,hmmpanther:PTHR24245:SF1,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		M/V		C	neutral	728/5952		getma.org/?cm=msa&ty=f&p=GPR63_HUMAN&rb=98&re=371&var=M128V	tolerated(0.16)	A8K1C4_HUMAN			YES	GPR63,missense_variant,p.Met128Val,ENST00000229955,NM_030784.3,NM_001143957.2;GPR63,missense_variant,p.Met128Val,ENST00000417980,;RP3-417O22.3,downstream_gene_variant,,ENST00000442184,;							MODERATE	382/1260	M128V	GPR63_HUMAN			Transcript		benign(0.02)	.	ENSP00000229955		CCDS5036.1			1	
PPP1R3A	0	LGGM	GRCh37	7	113558951	113558951	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	97	18	.	.	ENST00000284601.3:c.101A>T	p.Gln34Leu	p.Q34L	ENST00000284601	NM_002711.3	34	cAa/cTa	0	1	1	UPI000013DDAA	0	NA	ENST00000284601		ENSG00000154415	9291		115	0		HGNC	p.Q34L		PPP1R3A		SNV			1				ENST00000284602	protein_coding	getma.org/?cm=var&var=hg19,7,113558951,T,A&fts=all		hmmpanther:PTHR12307,hmmpanther:PTHR12307:SF2		Q/L		A	neutral	170/4384		getma.org/?cm=msa&ty=f&p=PPR3A_HUMAN&rb=1&re=121&var=Q34L	deleterious(0)	C9JZB3_HUMAN			YES	PPP1R3A,missense_variant,p.Gln34Leu,ENST00000284601,NM_002711.3;PPP1R3A,intron_variant,,ENST00000449795,;PPP1R3A,missense_variant,p.Gln34Leu,ENST00000284602,;							MODERATE	101/3369	Q34L	PPR3A_HUMAN			Transcript		benign(0.004)	.	ENSP00000284601		CCDS5759.1			1	
ZPLD1	0	LGGM	GRCh37	3	102171855	102171855	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	46	18	.	.	ENST00000306176.1:c.247G>A	p.Asp83Asn	p.D83N	ENST00000306176	NM_175056.1	83	Gat/Aat	0	1		UPI0000209EBE	0	NA	ENST00000466937		ENSG00000170044	27022		64	1.78		HGNC	p.D83N		ZPLD1		SNV							ENST00000306176	protein_coding	getma.org/?cm=var&var=hg19,3,102171855,G,A&fts=all		PROSITE_profiles:PS51034,hmmpanther:PTHR22962:SF1,hmmpanther:PTHR22962,Pfam_domain:PF00100,SMART_domains:SM00241		D/N		A	low	443/1531		getma.org/?cm=msa&ty=f&p=ZPLD1_HUMAN&rb=43&re=316&var=D67N	tolerated(0.14)					ZPLD1,missense_variant,p.Asp83Asn,ENST00000306176,NM_175056.1;ZPLD1,missense_variant,p.Asp67Asn,ENST00000491959,;ZPLD1,missense_variant,p.Asp67Asn,ENST00000466937,;							MODERATE	199/1248	D67N	ZPLD1_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000418253					1	
CLPB	0	LGGM	GRCh37	11	72028196	72028196	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	18	.	.	ENST00000294053.3:c.1032G>A	p.Lys344=	p.K344=	ENST00000294053	NM_001258394.1	344	aaG/aaA	0	1	1	UPI00001359D5	0		ENST00000294053		ENSG00000162129	30664		85			HGNC	p.K314K	rs763790408	CLPB	6.24E-05	SNV			1				ENST00000538039	protein_coding			hmmpanther:PTHR11638,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		K		T		1206/3240				F5H392_HUMAN			YES	CLPB,synonymous_variant,p.=,ENST00000294053,NM_001258394.1,NM_030813.4;CLPB,synonymous_variant,p.=,ENST00000538039,NM_001258392.1;CLPB,synonymous_variant,p.=,ENST00000437826,;CLPB,synonymous_variant,p.=,ENST00000535990,;CLPB,synonymous_variant,p.=,ENST00000543042,;CLPB,synonymous_variant,p.=,ENST00000340729,NM_001258393.1;CLPB,synonymous_variant,p.=,ENST00000544382,;CLPB,downstream_gene_variant,,ENST00000544683,;CLPB,synonymous_variant,p.=,ENST00000535477,;							LOW	1032/2124		CLPB_HUMAN			Transcript			.	ENSP00000294053	8.24E-06	CCDS8215.1			1	
NKTR	0	LGGM	GRCh37	3	42680604	42680604	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	18	.	.	ENST00000232978.8:c.3408G>A	p.Arg1136=	p.R1136=	ENST00000232978	NM_005385.3	1136	agG/agA	0	1	1	UPI00001301FD	0		ENST00000232978		ENSG00000114857	7833		52			HGNC	p.R1136R		NKTR		SNV							ENST00000232978	protein_coding					R		A		3596/7337							YES	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,downstream_gene_variant,,ENST00000468735,;NKTR,downstream_gene_variant,,ENST00000498730,;NKTR,downstream_gene_variant,,ENST00000465584,;NKTR,downstream_gene_variant,,ENST00000460807,;NKTR,downstream_gene_variant,,ENST00000508351,;NKTR,upstream_gene_variant,,ENST00000490189,;NKTR,downstream_gene_variant,,ENST00000472258,;NKTR,downstream_gene_variant,,ENST00000464315,;							LOW	3408/4389		NKTR_HUMAN			Transcript			.	ENSP00000232978		CCDS2702.1			1	
KNTC1	0	LGGM	GRCh37	12	123089482	123089482	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	18	.	.	ENST00000333479.7:c.5234G>A	p.Arg1745Gln	p.R1745Q	ENST00000333479	NM_014708.4	1745	cGa/cAa	0	1	1	UPI0000047FD6	0	NA	ENST00000333479		ENSG00000184445	17255		62	1.43		HGNC	p.R170Q	rs780306479	KNTC1		SNV							ENST00000537348	protein_coding	getma.org/?cm=var&var=hg19,12,123089482,G,A&fts=all		hmmpanther:PTHR15688:SF1,hmmpanther:PTHR15688,Pfam_domain:PF10493		R/Q		A	low	5411/6975	2.21E-05	getma.org/?cm=msa&ty=f&p=KNTC1_HUMAN&rb=1579&re=2130&var=R1745Q	deleterious(0.01)	J3KQF2_HUMAN,F5H5V0_HUMAN			YES	KNTC1,missense_variant,p.Arg1745Gln,ENST00000333479,NM_014708.4;KNTC1,missense_variant,p.Arg170Gln,ENST00000537348,;KNTC1,5_prime_UTR_variant,,ENST00000436959,;KNTC1,intron_variant,,ENST00000450485,;KNTC1,downstream_gene_variant,,ENST00000423927,;KNTC1,upstream_gene_variant,,ENST00000546125,;KNTC1,downstream_gene_variant,,ENST00000545065,;KNTC1,downstream_gene_variant,,ENST00000535186,;KNTC1,non_coding_transcript_exon_variant,,ENST00000377192,;KNTC1,non_coding_transcript_exon_variant,,ENST00000541466,;KNTC1,upstream_gene_variant,,ENST00000536625,;							MODERATE	5234/6630	R1745Q	KNTC1_HUMAN	0.00021		Transcript		benign(0.244)	.	ENSP00000328236	1.66E-05	CCDS45002.1			1	
FAM26E	0	LGGM	GRCh37	6	116836971	116836971	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	18	.	.	ENST00000368599.3:c.749G>A	p.Arg250Lys	p.R250K	ENST00000368599	NM_153711.2	250	aGg/aAg	0	1	1	UPI0000072525	0	NA	ENST00000368599		ENSG00000178033	21568		88	-0.345		HGNC	p.R250K		FAM26E		SNV							ENST00000368599	protein_coding	getma.org/?cm=var&var=hg19,6,116836971,G,A&fts=all		Pfam_domain:PF14798,hmmpanther:PTHR32261:SF4,hmmpanther:PTHR32261		R/K		A	neutral	800/9784		getma.org/?cm=msa&ty=f&p=FA26E_HUMAN&rb=1&re=306&var=R250K	tolerated(0.81)				YES	FAM26E,missense_variant,p.Arg250Lys,ENST00000368599,NM_153711.2;TRAPPC3L,intron_variant,,ENST00000368602,NM_001139444.2;TRAPPC3L,intron_variant,,ENST00000437098,;TRAPPC3L,upstream_gene_variant,,ENST00000356128,;							MODERATE	749/930	R250K	FA26E_HUMAN			Transcript		benign(0.001)	.	ENSP00000357588		CCDS5108.1			1	
CMAHP	0	LGGM	GRCh37	6	25093896	25093896	+	non_coding_transcript_exon_variant	RNA	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	19	.	.	ENST00000377989.4:n.1691C>T		*564*	ENST00000377989				0	1	1		0		ENST00000377989		ENSG00000168405	2098		87			HGNC	p.P320L		CMAHP		SNV							ENST00000377989	processed_transcript							A		1691/2264							YES	CMAHP,non_coding_transcript_exon_variant,,ENST00000377989,;CMAHP,non_coding_transcript_exon_variant,,ENST00000493257,;CMAHP,non_coding_transcript_exon_variant,,ENST00000490939,;CMAHP,non_coding_transcript_exon_variant,,ENST00000436589,;CMAHP,non_coding_transcript_exon_variant,,ENST00000377993,;CMAHP,downstream_gene_variant,,ENST00000424282,;							MODIFIER						Transcript			.						1	
NLRP5	0	LGGM	GRCh37	19	56572781	56572781	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	19	.	.	ENST00000390649.3:c.3490C>T	p.Pro1164Ser	p.P1164S	ENST00000390649	NM_153447.4	1164	Cct/Tct	0	1	1	UPI00001AEEBD	0	getma.org/pdb.php?prot=NALP5_HUMAN&from=1088&to=1200&var=P1164S	ENST00000390649		ENSG00000171487	21269		55	0.435		HGNC	p.P1164S		NLRP5		SNV							ENST00000390649	protein_coding	getma.org/?cm=var&var=hg19,19,56572781,C,T&fts=all		hmmpanther:PTHR24106:SF12,hmmpanther:PTHR24106,Superfamily_domains:SSF52047		P/S		T	neutral	3490/3888		getma.org/?cm=msa&ty=f&p=NALP5_HUMAN&rb=1088&re=1200&var=P1164S	tolerated(0.16)				YES	NLRP5,missense_variant,p.Pro1164Ser,ENST00000390649,NM_153447.4;							MODERATE	3490/3603	P1164S	NALP5_HUMAN			Transcript		benign(0.076)	.	ENSP00000375063		CCDS12938.1			1	
ZNF805	0	LGGM	GRCh37	19	57765294	57765294	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	19	.	.	ENST00000414468.2:c.1107G>A	p.Lys369=	p.K369=	ENST00000414468	NM_001023563.3	369	aaG/aaA	0	1	1	UPI000041AAAF	0		ENST00000414468		ENSG00000204524	23272		72			HGNC	p.K236K		ZNF805		SNV							ENST00000354309	protein_coding			Superfamily_domains:SSF57667,Gene3D:3.30.160.60,Pfam_domain:PF13465,hmmpanther:PTHR24384:SF89,hmmpanther:PTHR24384,PROSITE_profiles:PS50157		K		A		1107/1884				B9EIQ3_HUMAN			YES	ZNF805,synonymous_variant,p.=,ENST00000535550,NM_001145078.1;ZNF805,synonymous_variant,p.=,ENST00000354309,NM_001145078.1;ZNF805,synonymous_variant,p.=,ENST00000414468,NM_001023563.3;							LOW	1107/1884		ZN805_HUMAN			Transcript			.	ENSP00000412999		CCDS46207.1			1	
AGTR1	0	LGGM	GRCh37	3	148459821	148459821	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	29	19	.	.	ENST00000542281.1:c.999A>G	p.Lys333=	p.K333=	ENST00000542281	NM_031850.3	333	aaA/aaG	0	1		UPI0000039D66	0		ENST00000349243		ENSG00000144891	336		48			HGNC	p.K333K		AGTR1		SNV			1				ENST00000497524	protein_coding			hmmpanther:PTHR24228,hmmpanther:PTHR24228:SF23,Gene3D:1.20.1070.10,Prints_domain:PR00635		K		G		1387/2356				Q53YY0_HUMAN,D3DNG8_HUMAN				AGTR1,synonymous_variant,p.=,ENST00000542281,NM_031850.3;AGTR1,synonymous_variant,p.=,ENST00000497524,NM_009585.3;AGTR1,synonymous_variant,p.=,ENST00000349243,NM_000685.4;AGTR1,synonymous_variant,p.=,ENST00000418473,NM_004835.4;AGTR1,synonymous_variant,p.=,ENST00000404754,;AGTR1,synonymous_variant,p.=,ENST00000402260,NM_032049.3;AGTR1,synonymous_variant,p.=,ENST00000474935,;AGTR1,synonymous_variant,p.=,ENST00000475347,;AGTR1,synonymous_variant,p.=,ENST00000461609,;							LOW	999/1080		AGTR1_HUMAN			Transcript			.	ENSP00000273430		CCDS3137.1			1	
TNPO1	0	LGGM	GRCh37	5	72173117	72173117	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	34	19	.	.	ENST00000337273.5:c.864G>A	p.Trp288Ter	p.W288*	ENST00000337273	NM_002270.3	288	tgG/tgA	0	1	1	UPI000020CAB6	0	NA	ENST00000337273		ENSG00000083312	6401		53	0		HGNC	p.W238X		TNPO1		SNV							ENST00000454282	protein_coding	getma.org/?cm=var&var=hg19,5,72173117,G,A&fts=all		Superfamily_domains:SSF48371,Gene3D:1.25.10.10,hmmpanther:PTHR10527:SF21,hmmpanther:PTHR10527		W/*		A	NA	1290/11183		NA		S4R398_HUMAN			YES	TNPO1,stop_gained,p.Trp288Ter,ENST00000337273,NM_002270.3;TNPO1,stop_gained,p.Trp238Ter,ENST00000454282,;TNPO1,stop_gained,p.Trp280Ter,ENST00000506351,NM_153188.2;TNPO1,stop_gained,p.Trp238Ter,ENST00000523768,;TNPO1,3_prime_UTR_variant,,ENST00000447967,;MIR4804,upstream_gene_variant,,ENST00000581683,;TNPO1,non_coding_transcript_exon_variant,,ENST00000508762,;TNPO1,non_coding_transcript_exon_variant,,ENST00000505082,;TNPO1,downstream_gene_variant,,ENST00000506528,;TNPO1,3_prime_UTR_variant,,ENST00000520850,;CTD-2339M3.1,downstream_gene_variant,,ENST00000497334,;							HIGH	864/2697	W288*	TNPO1_HUMAN			Transcript			.	ENSP00000336712		CCDS43329.1			1	
CNTNAP2	0	LGGM	GRCh37	7	147092781	147092781	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	109	19	.	.	ENST00000361727.3:c.1579G>A	p.Asp527Asn	p.D527N	ENST00000361727	NM_014141.5	527	Gac/Aac	0	1	1	UPI00001285FA	0	NA	ENST00000361727		ENSG00000174469	13830		128	1.99		HGNC	p.D527N	rs375957682	CNTNAP2		SNV	A:0		1				ENST00000361727	protein_coding	getma.org/?cm=var&var=hg19,7,147092781,G,A&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF4,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899		D/N	A:0.0001	A	medium	2095/9894		getma.org/?cm=msa&ty=f&p=CNTP2_HUMAN&rb=401&re=529&var=D527N	tolerated(0.27)	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			YES	CNTNAP2,missense_variant,p.Asp527Asn,ENST00000361727,NM_014141.5;							MODERATE	1579/3996	D527N	CNTP2_HUMAN			Transcript		benign(0.206)	.	ENSP00000354778		CCDS5889.1			1	
KMT2D	0	LGGM	GRCh37	12	49420213	49420213	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	19	.	.	ENST00000301067.7:c.15536G>A	p.Arg5179His	p.R5179H	ENST00000301067	NM_003482.3	5179	cGt/cAt	0	1	1	UPI0000EE84D6	0	NA	ENST00000301067	pathogenic	ENSG00000167548	7133		81	2.955		HGNC	p.R5179H	rs267607237,COSM3356316,COSM3356315	KMT2D		SNV			1			1,1,1	ENST00000301067	protein_coding	getma.org/?cm=var&var=hg19,12,49420213,C,T&fts=all		PROSITE_profiles:PS51542,hmmpanther:PTHR22884,hmmpanther:PTHR22884:SF324		R/H		T	medium	15536/19419		getma.org/?cm=msa&ty=f&p=MLL2_HUMAN&rb=5175&re=5235&var=R5179H		Q6PIA1_HUMAN,Q59FG6_HUMAN,F8VWW4_HUMAN			YES	KMT2D,missense_variant,p.Arg5179His,ENST00000301067,NM_003482.3;KMT2D,upstream_gene_variant,,ENST00000526209,;KMT2D,downstream_gene_variant,,ENST00000552391,;					0,1,1		MODERATE	15536/16614	R5179H	KMT2D_HUMAN			Transcript		unknown(0)	.	ENSP00000301067		CCDS44873.1			1	
PRB4	0	LGGM	GRCh37	12	11461691	11461691	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	19	.	.	ENST00000279575.1:c.226G>A	p.Gly76Arg	p.G76R	ENST00000279575	NM_001261399.1	76	Gga/Aga	0	1	1	UPI000013DBDC	0	NA	ENST00000279575		ENSG00000230657	9340		86	2.365		HGNC	p.G76R	rs780194859	PRB4		SNV							ENST00000279575	protein_coding	getma.org/?cm=var&var=hg19,12,11461691,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23203:SF4,hmmpanther:PTHR23203,Pfam_domain:PF15240,Prints_domain:PR01217		G/R		T	medium	260/913	3.00E-05	getma.org/?cm=msa&ty=f&p=E9PAL0_HUMAN&rb=40&re=239&var=G76R	deleterious_low_confidence(0.01)	E9PAL0_HUMAN			YES	PRB4,missense_variant,p.Gly76Arg,ENST00000279575,NM_001261399.1,NM_002723.4;PRB4,missense_variant,p.Gly76Arg,ENST00000535904,;PRB4,missense_variant,p.Gly76Arg,ENST00000445719,;							MODERATE	226/744	G76R				Transcript		unknown(0)	.	ENSP00000279575	1.65E-05	CCDS8641.1			1	
CCDC168	0	LGGM	GRCh37	13	103382369	103382369	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	83	19	.	.	ENST00000322527.2:c.6791C>T	p.Ser2264Leu	p.S2264L	ENST00000322527	NM_001146197.1	2264	tCa/tTa	0	1	1	UPI0000DD81F0	0	NA	ENST00000322527		ENSG00000175820	26851		102	1.7		HGNC	p.S2264L		CCDC168		SNV							ENST00000322527	protein_coding	getma.org/?cm=var&var=hg19,13,103382369,G,A&fts=all		Low_complexity_(Seg):seg		S/L		A	low	6791/7359		getma.org/?cm=msa&ty=f&p=CC168_HUMAN&rb=2201&re=2400&var=S2264L	deleterious(0.01)				YES	CCDC168,missense_variant,p.Ser2264Leu,ENST00000322527,NM_001146197.1;							MODERATE	6791/7359	S2264L	CC168_HUMAN			Transcript		unknown(0)	.	ENSP00000320232					1	
TCHH	0	LGGM	GRCh37	1	152083009	152083009	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	93	19	.	.	ENST00000368804.1:c.2684T>A	p.Leu895Gln	p.L895Q	ENST00000368804	NM_007113.3	895	cTa/cAa	0	1	1	UPI0000458A5E	0	NA	ENST00000368804		ENSG00000159450	11791		112	-0.145		HGNC	p.L895Q		TCHH		SNV							ENST00000368804	protein_coding	getma.org/?cm=var&var=hg19,1,152083009,A,T&fts=all		Coiled-coils_(Ncoils):Coil,Low_complexity_(Seg):seg		L/Q		T	neutral	2684/6900		getma.org/?cm=msa&ty=f&p=TRHY_HUMAN&rb=740&re=939&var=L895Q		Q5D861_HUMAN,A2RRS3_HUMAN			YES	TCHH,missense_variant,p.Leu895Gln,ENST00000368804,NM_007113.3;							MODERATE	2684/5832	L895Q	TRHY_HUMAN			Transcript		unknown(0)	.	ENSP00000357794		CCDS41396.1			1	
NAT2	0	LGGM	GRCh37	8	18258197	18258197	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	38	19	.	.	ENST00000286479.3:c.684A>T	p.Pro228=	p.P228=	ENST00000286479	NM_000015.2	228	ccA/ccT	0	1	1	UPI000013DE51	0		ENST00000286479		ENSG00000156006	7646		57			HGNC	p.P228P		NAT2		SNV			1				ENST00000286479	protein_coding			hmmpanther:PTHR11786,hmmpanther:PTHR11786:SF6,Pfam_domain:PF00797,Gene3D:1w5rA01,Superfamily_domains:SSF54001,Prints_domain:PR01543		P		T		791/1322				Q400I7_HUMAN,E7EWF9_HUMAN,A4Z6T7_HUMAN			YES	NAT2,synonymous_variant,p.=,ENST00000286479,NM_000015.2;NAT2,synonymous_variant,p.=,ENST00000520116,;							LOW	684/873		ARY2_HUMAN			Transcript			.	ENSP00000286479		CCDS6008.1			1	
CALD1	0	LGGM	GRCh37	7	134643013	134643013	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	135	19	.	.	ENST00000361675.2:c.2033G>A	p.Arg678Lys	p.R678K	ENST00000361675		678	aGa/aAa	0	1	1	UPI0000140A64	0	NA	ENST00000361675		ENSG00000122786	1441		154	2.22		HGNC	p.R442K		CALD1		SNV							ENST00000495522	protein_coding	getma.org/?cm=var&var=hg19,7,134643013,G,A&fts=all		Pfam_domain:PF02029,Prints_domain:PR01076,hmmpanther:PTHR18949,hmmpanther:PTHR18949:SF0		R/K		A	medium	2262/3612		getma.org/?cm=msa&ty=f&p=CALD1_HUMAN&rb=400&re=781&var=R678K	tolerated(0.1)	Q7Z2Y9_HUMAN,C9JE79_HUMAN,B4E3I0_HUMAN			YES	CALD1,missense_variant,p.Arg449Lys,ENST00000361388,NM_033138.3,NM_033157.3;CALD1,missense_variant,p.Arg443Lys,ENST00000393118,NM_033140.3,NM_033139.3;CALD1,missense_variant,p.Arg423Lys,ENST00000361901,NM_004342.6;CALD1,missense_variant,p.Arg678Lys,ENST00000361675,;CALD1,missense_variant,p.Arg448Lys,ENST00000422748,;CALD1,missense_variant,p.Arg442Lys,ENST00000495522,;CALD1,missense_variant,p.Arg417Lys,ENST00000424922,;CALD1,missense_variant,p.Arg428Lys,ENST00000543443,;CALD1,missense_variant,p.Arg423Lys,ENST00000417172,;CALD1,missense_variant,p.Arg423Lys,ENST00000436461,;CALD1,non_coding_transcript_exon_variant,,ENST00000466704,;CALD1,missense_variant,p.Arg417Lys,ENST00000443197,;CALD1,3_prime_UTR_variant,,ENST00000430085,;CALD1,non_coding_transcript_exon_variant,,ENST00000482470,;CALD1,upstream_gene_variant,,ENST00000473714,;							MODERATE	2033/2382	R678K	CALD1_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000354826		CCDS5835.1			1	
ZNF726	0	LGGM	GRCh37	19	24115970	24115970	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	36	19	.	.	ENST00000594466.1:c.1052G>A	p.Ser351Asn	p.S351N	ENST00000594466	NM_001244038.1	351	aGc/aAc	0	1	1	UPI0002255F7F	0		ENST00000594466		ENSG00000213967	32462		55			HGNC	p.S351N		ZNF726		SNV							ENST00000594466	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF153,hmmpanther:PTHR24377,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		S/N		A		1157/2473			tolerated(1)	M0R0X8_HUMAN			YES	ZNF726,missense_variant,p.Ser351Asn,ENST00000594466,NM_001244038.1;ZNF726,missense_variant,p.Ser351Asn,ENST00000322487,;ZNF726,intron_variant,,ENST00000575986,;ZNF726,intron_variant,,ENST00000334589,;CTB-92J24.3,intron_variant,,ENST00000596326,;CTB-92J24.2,downstream_gene_variant,,ENST00000594230,;ZNF92P3,upstream_gene_variant,,ENST00000596594,;							MODERATE	1052/1851					Transcript		benign(0.002)	.	ENSP00000471516		CCDS59372.1			1	
C14orf166B	0	LGGM	GRCh37	14	77294653	77294653	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	77	19	.	.	ENST00000393774.3:c.108A>G	p.Pro36=	p.P36=	ENST00000393774	NM_194287.2	36	ccA/ccG	0	1	1	UPI000155D520	0		ENST00000393774		ENSG00000100565	23346		96			HGNC	p.P19P		C14orf166B		SNV							ENST00000450042	protein_coding			hmmpanther:PTHR24114,hmmpanther:PTHR24114:SF0		P		G		232/1648							YES	C14orf166B,synonymous_variant,p.=,ENST00000393774,NM_194287.2;C14orf166B,synonymous_variant,p.=,ENST00000450042,;C14orf166B,synonymous_variant,p.=,ENST00000555189,;C14orf166B,upstream_gene_variant,,ENST00000216453,;C14orf166B,non_coding_transcript_exon_variant,,ENST00000460005,;ANGEL1,upstream_gene_variant,,ENST00000557497,;C14orf166B,synonymous_variant,p.=,ENST00000216450,;C14orf166B,3_prime_UTR_variant,,ENST00000484640,;C14orf166B,3_prime_UTR_variant,,ENST00000557453,;							LOW	108/1467		CN16B_HUMAN			Transcript			.	ENSP00000377369		CCDS9853.2			1	
IL10RB	0	LGGM	GRCh37	21	34648978	34648978	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	57	19	.	.	ENST00000290200.2:c.251A>T	p.Asp84Val	p.D84V	ENST00000290200	NM_000628.4	84	gAc/gTc	0	1	1	UPI0000072ECA	0	getma.org/pdb.php?prot=I10R2_HUMAN&from=1&to=100&var=D84V	ENST00000290200		ENSG00000243646	5965		76	1.865		HGNC	p.D21V		IL10RB		SNV			1				ENST00000451065	protein_coding	getma.org/?cm=var&var=hg19,21,34648978,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR20859,hmmpanther:PTHR20859:SF50,Gene3D:2.60.40.10,Pfam_domain:PF01108,Superfamily_domains:SSF49265		D/V		T	low	359/1963		getma.org/?cm=msa&ty=f&p=I10R2_HUMAN&rb=1&re=100&var=D84V	deleterious(0.01)				YES	IL10RB,missense_variant,p.Asp84Val,ENST00000290200,NM_000628.4;AP000295.9,missense_variant,p.Asp212Val,ENST00000433395,;IL10RB,missense_variant,p.Asp21Val,ENST00000451065,;AP000295.9,3_prime_UTR_variant,,ENST00000432231,;IL10RB,non_coding_transcript_exon_variant,,ENST00000493295,;IL10RB,intron_variant,,ENST00000422891,;IL10RB,intron_variant,,ENST00000498371,;							MODERATE	251/978	D84V	I10R2_HUMAN			Transcript		possibly_damaging(0.57)	.	ENSP00000290200		CCDS13623.1			1	
KRT80	0	LGGM	GRCh37	12	52574337	52574337	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	19	.	.	ENST00000394815.2:c.626T>A	p.Leu209Gln	p.L209Q	ENST00000394815	NM_182507.2	209	cTg/cAg	0	1	1	UPI0000160118	0	getma.org/pdb.php?prot=K2C80_HUMAN&from=82&to=393&var=L209Q	ENST00000394815		ENSG00000167767	27056		61	3.465		HGNC	p.L209Q		KRT80		SNV							ENST00000313234	protein_coding	getma.org/?cm=var&var=hg19,12,52574337,A,T&fts=all		hmmpanther:PTHR23239:SF150,hmmpanther:PTHR23239,Pfam_domain:PF00038		L/Q		T	medium	724/3859		getma.org/?cm=msa&ty=f&p=K2C80_HUMAN&rb=82&re=393&var=L209Q	deleterious(0.01)				YES	KRT80,missense_variant,p.Leu209Gln,ENST00000313234,NM_001081492.1;KRT80,missense_variant,p.Leu209Gln,ENST00000394815,NM_182507.2;KRT80,non_coding_transcript_exon_variant,,ENST00000466011,;							MODERATE	626/1359	L209Q	K2C80_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000378292		CCDS8821.2			1	
AGPAT9	0	LGGM	GRCh37	4	84502773	84502773	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	19	.	.	ENST00000395226.2:c.267G>A	p.Arg89=	p.R89=	ENST00000395226	NM_001256421.1	89	agG/agA	0	1		UPI000004B62F	0		ENST00000264409		ENSG00000138678	28157		94			HGNC	p.R89R		AGPAT9		SNV							ENST00000264409	protein_coding			hmmpanther:PTHR23063,hmmpanther:PTHR23063:SF10		R		A		479/2625								AGPAT9,synonymous_variant,p.=,ENST00000395226,NM_001256421.1;AGPAT9,synonymous_variant,p.=,ENST00000264409,NM_032717.4,NM_001256422.1;							LOW	267/1305		GPAT3_HUMAN			Transcript			.	ENSP00000264409		CCDS3606.1			1	
NIPA2	0	LGGM	GRCh37	15	23006453	23006453	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	19	.	.	ENST00000337451.3:c.851G>A	p.Ser284Asn	p.S284N	ENST00000337451	NM_030922.6	284	aGt/aAt	0	1	1	UPI0000070013	0	NA	ENST00000337451		ENSG00000140157	17044		79	1.87		HGNC	p.S265N		NIPA2		SNV							ENST00000539711	protein_coding	getma.org/?cm=var&var=hg19,15,23006453,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12570:SF1,hmmpanther:PTHR12570,Pfam_domain:PF05653		S/N		T	low	1464/3233		getma.org/?cm=msa&ty=f&p=NIPA2_HUMAN&rb=6&re=306&var=S284N	tolerated(0.08)	H0YMQ7_HUMAN			YES	NIPA2,missense_variant,p.Ser284Asn,ENST00000337451,NM_030922.6;NIPA2,missense_variant,p.Ser284Asn,ENST00000398014,NM_001008860.2;NIPA2,missense_variant,p.Ser284Asn,ENST00000398013,NM_001008892.2;NIPA2,missense_variant,p.Ser265Asn,ENST00000359727,NM_001184888.1;NIPA2,missense_variant,p.Ser265Asn,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,;							MODERATE	851/1083	S284N	NIPA2_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000337618		CCDS10010.1			1	
CTNNA2	0	LGGM	GRCh37	2	80874960	80874960	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	123	19	.	.	ENST00000466387.1:c.2681A>T	p.Gln894Leu	p.Q894L	ENST00000466387		894	cAg/cTg	0	1		UPI0000D9D4EC	0	NA	ENST00000402739		ENSG00000066032	2510		142	1.845		HGNC	p.Q942L	COSM722223	CTNNA2		SNV						1	ENST00000402739	protein_coding	getma.org/?cm=var&var=hg19,2,80874960,A,T&fts=all		hmmpanther:PTHR18914:SF23,hmmpanther:PTHR18914		Q/L		T	low	2830/3684		getma.org/?cm=msa&ty=f&p=CTNA2_HUMAN&rb=915&re=953&var=Q942L	deleterious(0.01)	C9J144_HUMAN,C9IZ88_HUMAN				CTNNA2,missense_variant,p.Gln894Leu,ENST00000466387,;CTNNA2,missense_variant,p.Gln894Leu,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,missense_variant,p.Gln942Leu,ENST00000402739,NM_001282597.1;CTNNA2,missense_variant,p.Gln894Leu,ENST00000541047,;CTNNA2,missense_variant,p.Gln573Leu,ENST00000343114,NM_001282600.1,NM_001282599.1;CTNNA2,missense_variant,p.Gln928Leu,ENST00000361291,;CTNNA2,missense_variant,p.Gln849Leu,ENST00000540488,;					1		MODERATE	2825/2862	Q942L	CTNA2_HUMAN			Transcript		possibly_damaging(0.885)	.	ENSP00000384638		CCDS62944.1			1	
RAB6B	0	LGGM	GRCh37	3	133557058	133557058	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	19	.	.	ENST00000285208.4:c.447C>A	p.Ser149Arg	p.S149R	ENST00000285208	NM_016577.3	149	agC/agA	0	1	1	UPI000000125F	0	getma.org/pdb.php?prot=RAB6B_HUMAN&from=15&to=175&var=S149R	ENST00000285208		ENSG00000154917	14902		84	0.865		HGNC	p.S116R		RAB6B		SNV							ENST00000477759	protein_coding	getma.org/?cm=var&var=hg19,3,133557058,G,T&fts=all		PROSITE_profiles:PS51419,hmmpanther:PTHR24073:SF343,hmmpanther:PTHR24073,Gene3D:3.40.50.300,Pfam_domain:PF00071,TIGRFAM_domain:TIGR00231,SMART_domains:SM00174,SMART_domains:SM00176,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540		S/R		T	low	797/5526		getma.org/?cm=msa&ty=f&p=RAB6B_HUMAN&rb=15&re=175&var=S149R	deleterious(0.04)	Q9UL29_HUMAN,J3KR73_HUMAN,C9JU14_HUMAN,C9JB90_HUMAN			YES	RAB6B,missense_variant,p.Ser149Arg,ENST00000285208,NM_016577.3;RAB6B,missense_variant,p.Ser149Arg,ENST00000543906,;RAB6B,missense_variant,p.Ser136Arg,ENST00000486858,;RAB6B,missense_variant,p.Ser116Arg,ENST00000477759,;RAB6B,intron_variant,,ENST00000469959,;RAB6B,downstream_gene_variant,,ENST00000460865,;RAB6B,downstream_gene_variant,,ENST00000488969,;							MODERATE	447/627	S149R	RAB6B_HUMAN			Transcript		benign(0.032)	.	ENSP00000285208		CCDS3082.1			1	
KRT81	0	LGGM	GRCh37	12	52682207	52682207	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	95	20	.	.	ENST00000327741.5:c.673C>A	p.Leu225Met	p.L225M	ENST00000327741	NM_002281.3	225	Ctg/Atg	0	1	1	UPI0000DBEEF8	0	getma.org/pdb.php?prot=KT81L_HUMAN&from=110&to=418&var=L228M	ENST00000327741		ENSG00000205426	6458		115	3.42		HGNC	p.L225M		KRT81		SNV			1				ENST00000327741	protein_coding	getma.org/?cm=var&var=hg19,12,52682207,G,T&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF143		L/M		T	medium	742/1929		getma.org/?cm=msa&ty=f&p=KT81L_HUMAN&rb=110&re=418&var=L228M	deleterious(0.01)	Q8NFV1_HUMAN,Q8N120_HUMAN			YES	KRT81,missense_variant,p.Leu225Met,ENST00000327741,NM_002281.3;KRT86,intron_variant,,ENST00000544024,;KRT86,intron_variant,,ENST00000423955,;KRT86,intron_variant,,ENST00000553310,;							MODERATE	673/1518	L228M	KRT81_HUMAN			Transcript		possibly_damaging(0.724)	.	ENSP00000369349		CCDS31805.1			1	
OR8H1	0	LGGM	GRCh37	11	56058520	56058520	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	20	.	.	ENST00000313022.2:c.19A>T	p.Thr7Ser	p.T7S	ENST00000313022	NM_001005199.1	7	Aca/Tca	0	1	1	UPI0000041BC0	0	NA	ENST00000313022		ENSG00000181693	14824		90	0.655		HGNC	p.T7S		OR8H1		SNV							ENST00000313022	protein_coding	getma.org/?cm=var&var=hg19,11,56058520,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF11,Superfamily_domains:SSF81321		T/S		A	neutral	47/1038		getma.org/?cm=msa&ty=f&p=OR8H1_HUMAN&rb=1&re=137&var=T7S	tolerated(0.13)				YES	OR8H1,missense_variant,p.Thr7Ser,ENST00000313022,NM_001005199.1;							MODERATE	19/936	T7S	OR8H1_HUMAN			Transcript		possibly_damaging(0.45)	.	ENSP00000323595		CCDS31526.1			1	
STAG1	0	LGGM	GRCh37	3	136240227	136240227	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	20	.	.	ENST00000383202.2:c.504A>G	p.Gly168=	p.G168=	ENST00000383202	NM_005862.2	168	ggA/ggG	0	1	1	UPI000020A2DE	0		ENST00000383202		ENSG00000118007	11354		52			HGNC	p.G168G		STAG1		SNV							ENST00000236698	protein_coding			hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF6,Pfam_domain:PF08514		G		C		761/6053				Q4LE48_HUMAN			YES	STAG1,synonymous_variant,p.=,ENST00000383202,NM_005862.2;STAG1,synonymous_variant,p.=,ENST00000236698,;STAG1,synonymous_variant,p.=,ENST00000480733,;STAG1,5_prime_UTR_variant,,ENST00000434713,;STAG1,3_prime_UTR_variant,,ENST00000483235,;STAG1,3_prime_UTR_variant,,ENST00000487065,;STAG1,non_coding_transcript_exon_variant,,ENST00000462818,;							LOW	504/3777		STAG1_HUMAN			Transcript			.	ENSP00000372689		CCDS3090.1			1	
SPATA31A6	0	LGGM	GRCh37	9	43627001	43627001	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	65	20	.	.	ENST00000332857.6:c.1686G>A	p.Gln562=	p.Q562=	ENST00000332857	NM_001145196.1	562	caG/caA	0	1	1	UPI0000197F6E	0		ENST00000332857		ENSG00000185775	32006		85			HGNC	p.Q562Q	COSM3657599	SPATA31A6		SNV						1	ENST00000332857	protein_coding			hmmpanther:PTHR21859:SF9,hmmpanther:PTHR21859,Pfam_domain:PF14650		Q		T		1715/4209							YES	SPATA31A6,synonymous_variant,p.=,ENST00000332857,NM_001145196.1;SPATA31A6,downstream_gene_variant,,ENST00000496386,;					1		LOW	1686/4032		S31A6_HUMAN			Transcript			.	ENSP00000329825		CCDS47973.1			1	
NOX4	0	LGGM	GRCh37	11	89106626	89106626	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	53	20	.	.	ENST00000263317.4:c.1109A>G	p.His370Arg	p.H370R	ENST00000263317		370	cAt/cGt	0	1	1	UPI000045655B	0	NA	ENST00000263317		ENSG00000086991	7891		73	3.215		HGNC	p.I222V		NOX4		SNV							ENST00000529343	protein_coding	getma.org/?cm=var&var=hg19,11,89106626,T,C&fts=all		PROSITE_profiles:PS51384,hmmpanther:PTHR11972,Pfam_domain:PF08022,Gene3D:2.40.30.10,Superfamily_domains:SSF63380		H/R		C	medium	1348/2388		getma.org/?cm=msa&ty=f&p=NOX4_HUMAN&rb=306&re=417&var=H370R	deleterious(0)	E7EMD7_HUMAN			YES	NOX4,missense_variant,p.His346Arg,ENST00000535633,NM_001143836.1,NM_016931.3;NOX4,missense_variant,p.His346Arg,ENST00000424319,;NOX4,missense_variant,p.His346Arg,ENST00000343727,;NOX4,missense_variant,p.His346Arg,ENST00000542487,NM_001143837.1;NOX4,missense_variant,p.His370Arg,ENST00000263317,;NOX4,missense_variant,p.His346Arg,ENST00000527956,;NOX4,missense_variant,p.His370Arg,ENST00000534731,;NOX4,missense_variant,p.His346Arg,ENST00000532825,;NOX4,missense_variant,p.His345Arg,ENST00000528341,;NOX4,missense_variant,p.His391Arg,ENST00000413594,;NOX4,missense_variant,p.His204Arg,ENST00000527626,;NOX4,missense_variant,p.His63Arg,ENST00000375979,;NOX4,missense_variant,p.His63Arg,ENST00000531342,;NOX4,intron_variant,,ENST00000525196,;NOX4,missense_variant,p.Ile222Val,ENST00000529343,;							MODERATE	1109/1737	H370R	NOX4_HUMAN			Transcript		possibly_damaging(0.892)	.	ENSP00000263317		CCDS8285.1			1	
UBE3C	0	LGGM	GRCh37	7	156967660	156967660	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	100	20	.	.	ENST00000348165.5:c.390G>A	p.Lys130=	p.K130=	ENST00000348165	NM_014671.2	130	aaG/aaA	0	1	1	UPI000020E72A	0		ENST00000348165		ENSG00000009335	16803		120			HGNC	p.K87K		UBE3C		SNV							ENST00000389103	protein_coding			hmmpanther:PTHR11254,hmmpanther:PTHR11254:SF85		K		A		750/5229							YES	UBE3C,synonymous_variant,p.=,ENST00000348165,NM_014671.2;UBE3C,synonymous_variant,p.=,ENST00000389103,;UBE3C,downstream_gene_variant,,ENST00000430750,;							LOW	390/3252		UBE3C_HUMAN			Transcript			.	ENSP00000309198		CCDS34789.1			1	
ZNF180	0	LGGM	GRCh37	19	44980704	44980704	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	20	.	.	ENST00000221327.4:c.1994A>T	p.Gln665Leu	p.Q665L	ENST00000221327	NM_013256.4	665	cAg/cTg	0	1	1	UPI000013C7BD	0	getma.org/pdb.php?prot=ZN180_HUMAN&from=647&to=672&var=Q665L	ENST00000221327		ENSG00000167384	12970		74	0.475		HGNC	p.Q638L		ZNF180		SNV							ENST00000592529	protein_coding	getma.org/?cm=var&var=hg19,19,44980704,T,A&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF27,SMART_domains:SM00355,Superfamily_domains:SSF57667		Q/L		A	neutral	2276/3126		getma.org/?cm=msa&ty=f&p=ZN180_HUMAN&rb=627&re=692&var=Q665L	tolerated(0.05)	K7EQX9_HUMAN,K7EQP0_HUMAN			YES	ZNF180,missense_variant,p.Gln665Leu,ENST00000221327,NM_013256.4;ZNF180,missense_variant,p.Gln640Leu,ENST00000391956,NM_001278508.1;ZNF180,missense_variant,p.Gln638Leu,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,;							MODERATE	1994/2079	Q665L	ZN180_HUMAN			Transcript		benign(0.052)	.	ENSP00000221327		CCDS12639.1			1	
RFX8	0	LGGM	GRCh37	2	102038235	102038235	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	96	20	.	.	ENST00000428343.1:c.188C>T	p.Ala63Val	p.A63V	ENST00000428343	NM_001145664.1	63	gCc/gTc	0	1	1	UPI0001AE76D5	0	NA	ENST00000428343		ENSG00000196460	37253		116	0.46		HGNC	p.A176V		RFX8		SNV							ENST00000376826	protein_coding	getma.org/?cm=var&var=hg19,2,102038235,G,A&fts=all		hmmpanther:PTHR12619,hmmpanther:PTHR12619:SF19		A/V		A	neutral	308/1686		getma.org/?cm=msa&ty=f&p=RFX8_HUMAN&rb=88&re=287&var=A176V	tolerated(0.41)				YES	RFX8,missense_variant,p.Ala176Val,ENST00000376826,;RFX8,missense_variant,p.Ala63Val,ENST00000428343,NM_001145664.1;RFX8,missense_variant,p.Ala134Val,ENST00000481179,;RFX8,3_prime_UTR_variant,,ENST00000484091,;RFX8,non_coding_transcript_exon_variant,,ENST00000492238,;							MODERATE	188/1422	A176V	RFX8_HUMAN			Transcript		benign(0.058)	.	ENSP00000401536		CCDS46376.1			1	
HIST1H3B	0	LGGM	GRCh37	6	26031990	26031990	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	20	.	.	ENST00000244661.2:c.299A>T	p.Tyr100Phe	p.Y100F	ENST00000244661	NM_003537.3	100	tAc/tTc	0	1	1	UPI00000003C7	0		ENST00000244661		ENSG00000124693	4776		72			HGNC	p.Y100F		HIST1H3B		SNV							ENST00000244661	protein_coding			hmmpanther:PTHR11426,Pfam_domain:PF00125,Gene3D:1.10.20.10,SMART_domains:SM00428,Superfamily_domains:SSF47113,Prints_domain:PR00622		Y/F		A		299/472			deleterious_low_confidence(0)				YES	HIST1H3B,missense_variant,p.Tyr100Phe,ENST00000244661,NM_003537.3;HIST1H2AB,downstream_gene_variant,,ENST00000259791,NM_003513.2;HIST1H4B,upstream_gene_variant,,ENST00000377364,NM_003544.2;							MODERATE	299/411		H31_HUMAN			Transcript		possibly_damaging(0.587)	.	ENSP00000244661		CCDS4573.1			1	
FAM208A	0	LGGM	GRCh37	3	56680672	56680672	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	50	20	.	.	ENST00000493960.2:c.2093A>G	p.Asp698Gly	p.D698G	ENST00000493960	NM_001112736.1	698	gAc/gGc	0	1	1	UPI0000422561	0	NA	ENST00000493960		ENSG00000163946	30314		70	0.805		HGNC	p.D698G		FAM208A		SNV							ENST00000493960	protein_coding	getma.org/?cm=var&var=hg19,3,56680672,T,C&fts=all		hmmpanther:PTHR16207:SF1,hmmpanther:PTHR16207		D/G		C	low	2104/5600		getma.org/?cm=msa&ty=f&p=F208A_HUMAN&rb=601&re=800&var=D698G	deleterious(0.02)				YES	FAM208A,missense_variant,p.Asp302Gly,ENST00000431842,NM_015224.3;FAM208A,missense_variant,p.Asp698Gly,ENST00000493960,NM_001112736.1;FAM208A,missense_variant,p.Asp698Gly,ENST00000355628,;							MODERATE	2093/4539	D698G	F208A_HUMAN			Transcript		benign(0.391)	.	ENSP00000417509		CCDS46853.1			1	
WDR52	0	LGGM	GRCh37	3	113084967	113084967	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	20	.	.	ENST00000393845.2:c.2634A>T	p.Ala878=	p.A878=	ENST00000393845	NM_001164496.1	878	gcA/gcT	0	1		UPI000006D67B	0		ENST00000295868		ENSG00000206530	25631		87			HGNC	p.A878A		WDR52		SNV							ENST00000295868	protein_coding			Gene3D:2.130.10.10,hmmpanther:PTHR13720,hmmpanther:PTHR13720:SF18,SMART_domains:SM00320,Superfamily_domains:SSF50978		A		A		2797/3377				C9K0A4_HUMAN				WDR52,synonymous_variant,p.=,ENST00000393845,NM_001164496.1;WDR52,synonymous_variant,p.=,ENST00000465636,;WDR52,synonymous_variant,p.=,ENST00000295868,NM_018338.3;WDR52,intron_variant,,ENST00000488854,;WDR52,upstream_gene_variant,,ENST00000490481,;RP11-553D4.2,downstream_gene_variant,,ENST00000462549,;							LOW	2634/2949		WDR52_HUMAN			Transcript			.	ENSP00000295868		CCDS2972.1			1	
KLHDC8A	0	LGGM	GRCh37	1	205312470	205312470	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	20	.	.	ENST00000367156.3:c.263G>A	p.Gly88Asp	p.G88D	ENST00000367156	NM_001271863.1	88	gGc/gAc	0	1		UPI00000728EF	0	NA	ENST00000367155		ENSG00000162873	25573		94	-0.96		HGNC	p.G88D		KLHDC8A		SNV							ENST00000539253	protein_coding	getma.org/?cm=var&var=hg19,1,205312470,C,T&fts=all		Superfamily_domains:0052715,Gene3D:1zgkA00,Pfam_domain:PF01344,hmmpanther:PTHR24412,hmmpanther:PTHR24412:SF123,SMART_domains:SM00612		G/D		T	neutral	831/2928		getma.org/?cm=msa&ty=f&p=KLD8A_HUMAN&rb=68&re=114&var=G88D	tolerated(0.77)	U3KQK4_HUMAN,U3KQI4_HUMAN,U3KQH1_HUMAN,U3KQC2_HUMAN,U3KPX9_HUMAN,U3KPW1_HUMAN				KLHDC8A,missense_variant,p.Gly88Asp,ENST00000367156,NM_001271863.1,NM_001271865.1;KLHDC8A,missense_variant,p.Gly88Asp,ENST00000367155,NM_018203.2,NM_001271864.1;KLHDC8A,missense_variant,p.Gly88Asp,ENST00000539253,;KLHDC8A,missense_variant,p.Gly43Asp,ENST00000607826,;KLHDC8A,intron_variant,,ENST00000537168,;KLHDC8A,intron_variant,,ENST00000460687,;KLHDC8A,downstream_gene_variant,,ENST00000491471,;KLHDC8A,upstream_gene_variant,,ENST00000606181,;KLHDC8A,downstream_gene_variant,,ENST00000606887,;KLHDC8A,downstream_gene_variant,,ENST00000607173,;KLHDC8A,downstream_gene_variant,,ENST00000606529,;KLHDC8A,downstream_gene_variant,,ENST00000607193,;KLHDC8A,downstream_gene_variant,,ENST00000606111,;							MODERATE	263/1053	G88D	KLD8A_HUMAN			Transcript		benign(0.071)	.	ENSP00000356123		CCDS30985.1			1	
C9orf131	0	LGGM	GRCh37	9	35043799	35043799	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	91	20	.	.	ENST00000312292.5:c.1173C>T	p.Pro391=	p.P391=	ENST00000312292	NM_203299.2	391	ccC/ccT	0	1	1	UPI00001605AC	0		ENST00000312292		ENSG00000174038	31418		111			HGNC	p.P318P		C9orf131		SNV							ENST00000354479	protein_coding			hmmpanther:PTHR21777		P		T		1220/3409							YES	C9orf131,synonymous_variant,p.=,ENST00000312292,NM_203299.2,NM_001287391.1,NM_001040410.2;C9orf131,synonymous_variant,p.=,ENST00000421362,NM_001040412.1;C9orf131,synonymous_variant,p.=,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,;							LOW	1173/3240		CI131_HUMAN			Transcript			.	ENSP00000308279		CCDS6572.2			1	
SMG1	0	LGGM	GRCh37	16	18851070	18851070	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	85	20	.	.	ENST00000446231.2:c.6895G>A	p.Glu2299Lys	p.E2299K	ENST00000446231		2299	Gag/Aag	0	1	1	UPI00004F8E22	0	getma.org/pdb.php?prot=SMG1_HUMAN&from=2149&to=2427&var=E2299K	ENST00000446231		ENSG00000157106	30045		105	2.72		HGNC	p.E2299K		SMG1		SNV							ENST00000446231	protein_coding	getma.org/?cm=var&var=hg19,16,18851070,C,T&fts=all		PROSITE_profiles:PS50290,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF59,Gene3D:1.10.1070.11,Pfam_domain:PF00454,SMART_domains:SM00146,Superfamily_domains:SSF56112		E/K		T	medium	7308/16115		getma.org/?cm=msa&ty=f&p=SMG1_HUMAN&rb=2149&re=2427&var=E2299K	deleterious(0)	H3BPS6_HUMAN			YES	SMG1,missense_variant,p.Glu2299Lys,ENST00000446231,;SMG1,missense_variant,p.Glu2299Lys,ENST00000389467,NM_015092.4;SMG1,missense_variant,p.Glu2189Lys,ENST00000565324,;SMG1,non_coding_transcript_exon_variant,,ENST00000563448,;							MODERATE	6895/10986	E2299K	SMG1_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000402515		CCDS45430.1			1	
BIRC6	0	LGGM	GRCh37	2	32694658	32694658	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	89	20	.	.	ENST00000421745.2:c.6323A>T	p.Gln2108Leu	p.Q2108L	ENST00000421745	NM_016252.3	2108	cAg/cTg	0	1	1	UPI0001611442	0	NA	ENST00000421745		ENSG00000115760	13516		109	1.59		HGNC	p.Q2108L		BIRC6		SNV							ENST00000421745	protein_coding	getma.org/?cm=var&var=hg19,2,32694658,A,T&fts=all		hmmpanther:PTHR10044,hmmpanther:PTHR10044:SF93		Q/L		T	low	6457/15703		getma.org/?cm=msa&ty=f&p=BIRC6_HUMAN&rb=868&re=2325&var=Q2108L					YES	BIRC6,missense_variant,p.Gln2108Leu,ENST00000421745,NM_016252.3;BIRC6,upstream_gene_variant,,ENST00000462504,;							MODERATE	6323/14574	Q2108L	BIRC6_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000393596		CCDS33175.2			1	
ZFHX4	0	LGGM	GRCh37	8	77768015	77768015	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	20	.	.	ENST00000521891.2:c.8858C>T	p.Thr2953Ile	p.T2953I	ENST00000521891	NM_024721.4	2953	aCt/aTt	0	1	1	UPI0000424CC7	0	getma.org/pdb.php?prot=ZFHX4_HUMAN&from=2885&to=2941&var=T2908I	ENST00000521891		ENSG00000091656	30939		88	2.325		HGNC	p.T2908I		ZFHX4		SNV							ENST00000455469	protein_coding	getma.org/?cm=var&var=hg19,8,77768015,C,T&fts=all		Gene3D:1.10.10.60,Pfam_domain:PF00046,PROSITE_profiles:PS50071,hmmpanther:PTHR24208,hmmpanther:PTHR24208:SF40,SMART_domains:SM00389,Superfamily_domains:SSF46689		T/I		T	medium	9306/14019		getma.org/?cm=msa&ty=f&p=ZFHX4_HUMAN&rb=2885&re=2941&var=T2908I		Q9H7F3_HUMAN,Q86WW5_HUMAN,Q6DK57_HUMAN,G3V138_HUMAN,E5RI93_HUMAN,E5RHS1_HUMAN,E5RGK3_HUMAN,E5RG79_HUMAN			YES	ZFHX4,missense_variant,p.Thr2953Ile,ENST00000521891,NM_024721.4;ZFHX4,missense_variant,p.Thr2908Ile,ENST00000455469,;ZFHX4,missense_variant,p.Thr2927Ile,ENST00000518282,;ZFHX4,missense_variant,p.Thr2908Ile,ENST00000050961,;ZFHX4,downstream_gene_variant,,ENST00000522409,;							MODERATE	8858/10851	T2908I				Transcript		probably_damaging(0.994)	.	ENSP00000430497		CCDS47878.2			1	
PTPN1	0	LGGM	GRCh37	20	49195062	49195062	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	20	.	.	ENST00000371621.3:c.598G>A	p.Glu200Lys	p.E200K	ENST00000371621	NM_001278618.1	200	Gag/Aag	0	1	1	UPI000011DD79	0	getma.org/pdb.php?prot=PTN1_HUMAN&from=40&to=276&var=E200K	ENST00000371621		ENSG00000196396	9642		101	0.76		HGNC	p.E200K		PTPN1		SNV							ENST00000371621	protein_coding	getma.org/?cm=var&var=hg19,20,49195062,G,A&fts=all		Gene3D:3.90.190.10,Pfam_domain:PF00102,PIRSF_domain:PIRSF000926,PROSITE_profiles:PS50055,PROSITE_profiles:PS50056,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF239,SMART_domains:SM00194,SMART_domains:SM00404,Superfamily_domains:SSF52799		E/K		A	neutral	772/3529		getma.org/?cm=msa&ty=f&p=PTN1_HUMAN&rb=40&re=276&var=E200K	tolerated(0.07)	B4DSN5_HUMAN,A8K3M3_HUMAN			YES	PTPN1,missense_variant,p.Glu200Lys,ENST00000371621,NM_001278618.1,NM_002827.3;PTPN1,missense_variant,p.Glu127Lys,ENST00000541713,;RP4-530I15.9,upstream_gene_variant,,ENST00000431019,;							MODERATE	598/1308	E200K	PTN1_HUMAN			Transcript		benign(0.039)	.	ENSP00000360683		CCDS13430.1			1	
ALMS1	0	LGGM	GRCh37	2	73679537	73679537	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	21	.	.	ENST00000264448.6:c.5880A>T	p.Thr1960=	p.T1960=	ENST00000264448	NM_015120.4	1960	acA/acT	0	1	1	UPI0000212786	0		ENST00000264448		ENSG00000116127	428		60			HGNC	p.T238T		ALMS1		SNV			1				ENST00000423048	protein_coding			hmmpanther:PTHR21553,hmmpanther:PTHR21553:SF23		T		T		5991/12922				A6NMY3_HUMAN			YES	ALMS1,synonymous_variant,p.=,ENST00000264448,NM_015120.4;ALMS1,synonymous_variant,p.=,ENST00000409009,;ALMS1,synonymous_variant,p.=,ENST00000377715,;ALMS1-IT1,upstream_gene_variant,,ENST00000441587,;ALMS1,synonymous_variant,p.=,ENST00000423048,;ALMS1,upstream_gene_variant,,ENST00000484298,;							LOW	5880/12504		ALMS1_HUMAN			Transcript			.	ENSP00000264448		CCDS42697.1			1	
OR8K1	0	LGGM	GRCh37	11	56113988	56113988	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	21	.	.	ENST00000279783.2:c.474C>A	p.Ser158Arg	p.S158R	ENST00000279783	NM_001002907.1	158	agC/agA	0	1	1	UPI0000041BC6	0	NA	ENST00000279783		ENSG00000150261	14831		91	2.82		HGNC	p.S158R		OR8K1		SNV							ENST00000279783	protein_coding	getma.org/?cm=var&var=hg19,11,56113988,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF127,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		S/R		A	medium	568/1087		getma.org/?cm=msa&ty=f&p=OR8K1_HUMAN&rb=145&re=289&var=S158R	deleterious_low_confidence(0)				YES	OR8K1,missense_variant,p.Ser158Arg,ENST00000279783,NM_001002907.1;							MODERATE	474/960	S158R	OR8K1_HUMAN			Transcript		possibly_damaging(0.676)	.	ENSP00000279783		CCDS31528.1			1	
FNDC1	0	LGGM	GRCh37	6	159647547	159647547	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	87	21	.	.	ENST00000297267.9:c.1115A>T	p.Asn372Ile	p.N372I	ENST00000297267	NM_032532.2	372	aAt/aTt	0	1	1	UPI0000579B80	0	getma.org/pdb.php?prot=FNDC1_HUMAN&from=361&to=447&var=N372I	ENST00000297267		ENSG00000164694	21184		108	1.04		HGNC	p.N372I	COSM1285024	FNDC1		SNV						1	ENST00000297267	protein_coding	getma.org/?cm=var&var=hg19,6,159647547,A,T&fts=all		PROSITE_profiles:PS50853,hmmpanther:PTHR23197:SF8,hmmpanther:PTHR23197,Pfam_domain:PF00041,Gene3D:2.60.40.10,SMART_domains:SM00060,Superfamily_domains:SSF49265		N/I		T	low	1315/6552		getma.org/?cm=msa&ty=f&p=FNDC1_HUMAN&rb=361&re=447&var=N372I	deleterious(0)				YES	FNDC1,missense_variant,p.Asn372Ile,ENST00000297267,NM_032532.2;FNDC1,missense_variant,p.Asn372Ile,ENST00000340366,;FNDC1,missense_variant,p.Asn331Ile,ENST00000329629,;FNDC1,non_coding_transcript_exon_variant,,ENST00000480856,;					1		MODERATE	1115/5685	N372I	FNDC1_HUMAN			Transcript		unknown(0)	.	ENSP00000297267		CCDS47512.1			1	
OR5M8	0	LGGM	GRCh37	11	56258813	56258813	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	21	.	.	ENST00000327216.2:c.34A>T	p.Ile12Phe	p.I12F	ENST00000327216	NM_001005282.1	12	Att/Ttt	0	1	1	UPI00000405CC	0	NA	ENST00000327216		ENSG00000181371	14846		73	1.72		HGNC	p.I12F		OR5M8		SNV							ENST00000327216	protein_coding	getma.org/?cm=var&var=hg19,11,56258813,T,A&fts=all		Gene3D:1.20.1070.10,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF146,Superfamily_domains:SSF81321		I/F		A	low	59/1047		getma.org/?cm=msa&ty=f&p=OR5M8_HUMAN&rb=1&re=137&var=I12F	deleterious(0.01)				YES	OR5M8,missense_variant,p.Ile12Phe,ENST00000327216,NM_001005282.1;CTD-3051L14.13,upstream_gene_variant,,ENST00000525853,;							MODERATE	34/936	I12F	OR5M8_HUMAN			Transcript		benign(0.078)	.	ENSP00000323354		CCDS31533.1			1	
ZSWIM6	0	LGGM	GRCh37	5	60827390	60827390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	21	.	.	ENST00000252744.5:c.2083G>A	p.Ala695Thr	p.A695T	ENST00000252744	NM_020928.1	695	Gcc/Acc	0	1	1	UPI0001837EA2	0	NA	ENST00000252744		ENSG00000130449	29316		72	2.52		HGNC	p.A695T		ZSWIM6		SNV			1				ENST00000252744	protein_coding	getma.org/?cm=var&var=hg19,5,60827390,G,A&fts=all		hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF3		A/T		A	medium	2083/5501		getma.org/?cm=msa&ty=f&p=ZSWM6_HUMAN&rb=531&re=1214&var=A695T	deleterious(0.03)				YES	ZSWIM6,missense_variant,p.Ala695Thr,ENST00000252744,NM_020928.1;							MODERATE	2083/3648	A695T	ZSWM6_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000252744		CCDS47215.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37507956	37507956	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	21	.	.	ENST00000361713.1:c.3148A>T	p.Met1050Leu	p.M1050L	ENST00000361713	NM_052997.2	1050	Atg/Ttg	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		84	1.26		HGNC	p.M1050L		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37507956,A,T&fts=all		Pfam_domain:PF14915		M/L		T	low	3247/4405		getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=281&re=1396&var=M1106L	tolerated(0.87)	R4GNA2_HUMAN			YES	ANKRD30A,missense_variant,p.Met1169Leu,ENST00000374660,;ANKRD30A,missense_variant,p.Met1050Leu,ENST00000602533,;ANKRD30A,missense_variant,p.Met1050Leu,ENST00000361713,NM_052997.2;							MODERATE	3148/4026	M1106L	AN30A_HUMAN			Transcript		benign(0.001)	.	ENSP00000354432		CCDS7193.1			1	
MAPRE2	0	LGGM	GRCh37	18	32650260	32650260	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	21	.	.	ENST00000300249.5:c.224A>G	p.Tyr75Cys	p.Y75C	ENST00000300249	NM_014268.3	75	tAc/tGc	0	1	1	UPI0000072407	0	getma.org/pdb.php?prot=MARE2_HUMAN&from=60&to=159&var=Y75C	ENST00000300249		ENSG00000166974	6891		73	3.215		HGNC	p.Y75C		MAPRE2		SNV							ENST00000300249	protein_coding	getma.org/?cm=var&var=hg19,18,32650260,A,G&fts=all		PROSITE_profiles:PS50021,hmmpanther:PTHR10623:SF7,hmmpanther:PTHR10623,Gene3D:1.10.418.10,Pfam_domain:PF00307,Superfamily_domains:SSF47576		Y/C		G	medium	404/4265		getma.org/?cm=msa&ty=f&p=MARE2_HUMAN&rb=60&re=159&var=Y75C	deleterious(0.01)	M0QX52_HUMAN,K7ERD8_HUMAN,K7ENB3_HUMAN,G5E9I6_HUMAN			YES	MAPRE2,missense_variant,p.Tyr63Cys,ENST00000436190,NM_001143827.2;MAPRE2,missense_variant,p.Tyr75Cys,ENST00000300249,NM_014268.3;MAPRE2,missense_variant,p.Tyr32Cys,ENST00000589699,;MAPRE2,missense_variant,p.Tyr32Cys,ENST00000413393,NM_001143826.2;MAPRE2,missense_variant,p.Tyr75Cys,ENST00000588910,;MAPRE2,missense_variant,p.Tyr32Cys,ENST00000591734,;MAPRE2,missense_variant,p.Tyr32Cys,ENST00000587359,;MAPRE2,missense_variant,p.Tyr32Cys,ENST00000588349,;MAPRE2,intron_variant,,ENST00000538170,NM_001256420.1;MAPRE2,intron_variant,,ENST00000589180,;MAPRE2,non_coding_transcript_exon_variant,,ENST00000585592,;							MODERATE	224/984	Y75C	MARE2_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000300249		CCDS11910.1			1	
OR51J1	0	LGGM	GRCh37	11	5424270	5424270	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	21	.	.	ENST00000332043.1:c.444G>T	p.Arg148Ser	p.R148S	ENST00000332043		148	agG/agT	0	1	1	UPI00001AFFE3	0		ENST00000332043		ENSG00000184321	14856		83			HGNC	p.R148S		OR51J1		SNV							ENST00000332043	protein_coding			hmmpanther:PTHR23360:SF9,hmmpanther:PTHR23360,PROSITE_profiles:PS50262		R/S		T		444/951			tolerated(0.57)				YES	OR51J1,missense_variant,p.Arg148Ser,ENST00000332043,;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,;							MODERATE	444/951		O51J1_HUMAN			Transcript		unknown(0)	.	ENSP00000332473					1	
GABRR2	0	LGGM	GRCh37	6	89967471	89967471	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	21	.	.	ENST00000402938.3:c.1316A>T	p.His439Leu	p.H439L	ENST00000402938	NM_002043.3	439	cAt/cTt	0	1	1	UPI000012B0DB	0	NA	ENST00000402938		ENSG00000111886	4091		95	1.255		HGNC	p.H464L		GABRR2		SNV							ENST00000402938	protein_coding	getma.org/?cm=var&var=hg19,6,89967471,T,A&fts=all		hmmpanther:PTHR18945:SF197,hmmpanther:PTHR18945,TIGRFAM_domain:TIGR00860,Superfamily_domains:SSF90112		H/L		A	low	1450/1682		getma.org/?cm=msa&ty=f&p=GBRR2_HUMAN&rb=435&re=490&var=H464L	deleterious(0)	B4DER2_HUMAN			YES	GABRR2,missense_variant,p.His439Leu,ENST00000402938,NM_002043.3;GABRR2,missense_variant,p.His464Leu,ENST00000602399,;GABRR2,non_coding_transcript_exon_variant,,ENST00000602432,;							MODERATE	1316/1398	H464L	GBRR2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000386029		CCDS5020.3			1	
PPP1R8	0	LGGM	GRCh37	1	28176655	28176655	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	64	21	.	.	ENST00000311772.5:c.754A>T	p.Arg252Trp	p.R252W	ENST00000311772	NM_014110.4	252	Agg/Tgg	0	1	1	UPI00001320FD	0	NA	ENST00000311772		ENSG00000117751	9296		85	1.78		HGNC	p.R110W		PPP1R8		SNV							ENST00000373931	protein_coding	getma.org/?cm=var&var=hg19,1,28176655,A,T&fts=all		hmmpanther:PTHR23308		R/W		T	low	812/2344		getma.org/?cm=msa&ty=f&p=PP1R8_HUMAN&rb=141&re=349&var=R252W	deleterious(0.01)	Q6ICT4_HUMAN			YES	PPP1R8,missense_variant,p.Arg110Trp,ENST00000373931,NM_138558.2;PPP1R8,missense_variant,p.Arg28Trp,ENST00000236412,NM_002713.3;PPP1R8,missense_variant,p.Arg252Trp,ENST00000311772,NM_014110.4;PPP1R8,missense_variant,p.Arg110Trp,ENST00000431586,;AL109927.1,downstream_gene_variant,,ENST00000601459,;PPP1R8,non_coding_transcript_exon_variant,,ENST00000486634,;							MODERATE	754/1056	R252W	PP1R8_HUMAN			Transcript		possibly_damaging(0.745)	.	ENSP00000311677		CCDS311.1			1	
ZNF658	0	LGGM	GRCh37	9	40773969	40773969	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	117	21	.	.	ENST00000602553.1:c.1306G>A	p.Gly436Arg	p.G436R	ENST00000602553		436	Gga/Aga	0	1	1	UPI000046D388	0	getma.org/pdb.php?prot=Z658B_HUMAN&from=1&to=199&var=G196R	ENST00000602553		ENSG00000196409	25226		138	1.62		HGNC	p.G434R	COSM77154	ZNF658		SNV						1	ENST00000441795	protein_coding	getma.org/?cm=var&var=hg19,9,40773969,C,T&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF256,Superfamily_domains:SSF57667,Superfamily_domains:SSF57667		G/R		T	low	1601/4155		getma.org/?cm=msa&ty=f&p=Z658B_HUMAN&rb=1&re=199&var=G196R	tolerated(0.09)	B3KNB1_HUMAN			YES	ZNF658,missense_variant,p.Gly436Arg,ENST00000602553,;ZNF658,missense_variant,p.Gly436Arg,ENST00000377626,NM_033160.5;ZNF658,missense_variant,p.Gly434Arg,ENST00000441795,;ZNF658,missense_variant,p.Gly436Arg,ENST00000479710,;					1		MODERATE	1306/3180	G196R	ZN658_HUMAN			Transcript		benign(0.001)	.	ENSP00000473484		CCDS35023.1			1	
NRAP	0	LGGM	GRCh37	10	115400011	115400011	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	21	.	.	ENST00000359988.3:c.1403C>T	p.Ala468Val	p.A468V	ENST00000359988	NM_001261463.1	468	gCt/gTt	0	1	1	UPI00001F9739	0	NA	ENST00000359988		ENSG00000197893	7988		53	1.2		HGNC	p.A468V		NRAP		SNV							ENST00000359988	protein_coding	getma.org/?cm=var&var=hg19,10,115400011,G,A&fts=all		hmmpanther:PTHR11039		A/V		A	low	1648/5580		getma.org/?cm=msa&ty=f&p=NRAP_HUMAN&rb=344&re=492&var=A468V	tolerated(0.32)				YES	NRAP,missense_variant,p.Ala468Val,ENST00000369358,;NRAP,missense_variant,p.Ala468Val,ENST00000359988,NM_001261463.1,NM_198060.3;NRAP,missense_variant,p.Ala433Val,ENST00000369360,;NRAP,missense_variant,p.Ala433Val,ENST00000360478,NM_006175.4;							MODERATE	1403/5193	A468V	NRAP_HUMAN			Transcript		benign(0)	.	ENSP00000353078		CCDS7579.1			1	
MUC5B	0	LGGM	GRCh37	11	1271855	1271855	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	45	21	.	.	ENST00000529681.1:c.13745C>T	p.Ser4582Phe	p.S4582F	ENST00000529681	NM_002458.2	4582	tCc/tTc	0	1	1	UPI0001DD21C7	0	NA	ENST00000529681		ENSG00000117983	7516		66	1.7		HGNC	p.S4585F		MUC5B		SNV			1				ENST00000447027	protein_coding	getma.org/?cm=var&var=hg19,11,1271855,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF237		S/F		T	low	13803/17911		getma.org/?cm=msa&ty=f&p=MUC5B_HUMAN&rb=4438&re=4637&var=S4582F		Q93043_HUMAN			YES	MUC5B,missense_variant,p.Ser4585Phe,ENST00000447027,;MUC5B,missense_variant,p.Ser4582Phe,ENST00000529681,NM_002458.2;RP11-532E4.2,upstream_gene_variant,,ENST00000532061,;							MODERATE	13745/17289	S4582F	MUC5B_HUMAN			Transcript		unknown(0)	.	ENSP00000436812		CCDS44515.2			1	
CTTNBP2NL	0	LGGM	GRCh37	1	112998704	112998704	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	47	21	.	.	ENST00000271277.6:c.590G>A	p.Gly197Glu	p.G197E	ENST00000271277	NM_018704.2	197	gGa/gAa	0	1	1	UPI000006ED23	0	NA	ENST00000271277		ENSG00000143079	25330		68	1.935		HGNC	p.G197E		CTTNBP2NL		SNV							ENST00000441739	protein_coding	getma.org/?cm=var&var=hg19,1,112998704,G,A&fts=all		hmmpanther:PTHR23166,hmmpanther:PTHR23166:SF9		G/E		A	medium	815/5897		getma.org/?cm=msa&ty=f&p=CT2NL_HUMAN&rb=190&re=389&var=G197E	deleterious(0)	B1AMN7_HUMAN			YES	CTTNBP2NL,missense_variant,p.Gly197Glu,ENST00000271277,NM_018704.2;CTTNBP2NL,missense_variant,p.Gly197Glu,ENST00000441739,;CTTNBP2NL,upstream_gene_variant,,ENST00000607039,;							MODERATE	590/1920	G197E	CT2NL_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000271277		CCDS845.1			1	
SYTL2	0	LGGM	GRCh37	11	85445592	85445592	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	60	21	.	.	ENST00000316356.4:c.780G>A	p.Arg260=	p.R260=	ENST00000316356		260	agG/agA	0	1		UPI0001AADE5A	0		ENST00000528231		ENSG00000137501	15585		81			HGNC	p.R259R		SYTL2		SNV							ENST00000389960	protein_coding			hmmpanther:PTHR10024:SF10,hmmpanther:PTHR10024		R		T		1055/3536				Q9BQS1_HUMAN,E9PS39_HUMAN,E9PS29_HUMAN,E9PRW5_HUMAN,E9PK22_HUMAN				SYTL2,synonymous_variant,p.=,ENST00000316356,;SYTL2,synonymous_variant,p.=,ENST00000389960,NM_032943.3;SYTL2,synonymous_variant,p.=,ENST00000528231,NM_001162951.1,NM_001162953.1;SYTL2,synonymous_variant,p.=,ENST00000527523,;SYTL2,synonymous_variant,p.=,ENST00000524452,;SYTL2,non_coding_transcript_exon_variant,,ENST00000438197,;							LOW	777/2805		SYTL2_HUMAN			Transcript			.	ENSP00000431701		CCDS53688.1			1	
CMTR2	0	LGGM	GRCh37	16	71317778	71317778	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	52	21	.	.	ENST00000338099.5:c.2046C>A	p.Thr682=	p.T682=	ENST00000338099		682	acC/acA	0	1	1	UPI000006EA8B	0		ENST00000338099		ENSG00000180917	25635		73			HGNC	p.T682T		CMTR2		SNV							ENST00000434935	protein_coding			hmmpanther:PTHR16121,hmmpanther:PTHR16121:SF1		T		T		2383/4869				H3BUK2_HUMAN,H3BTZ7_HUMAN,H3BS00_HUMAN,H3BR19_HUMAN,H3BNZ8_HUMAN			YES	CMTR2,synonymous_variant,p.=,ENST00000338099,;CMTR2,synonymous_variant,p.=,ENST00000434935,NM_001099642.1,NM_018348.5;CMTR2,downstream_gene_variant,,ENST00000565850,;CMTR2,downstream_gene_variant,,ENST00000568910,;CMTR2,downstream_gene_variant,,ENST00000563876,;CMTR2,downstream_gene_variant,,ENST00000564183,;CMTR2,downstream_gene_variant,,ENST00000567610,;CMTR2,downstream_gene_variant,,ENST00000564690,;							LOW	2046/2313		CMTR2_HUMAN			Transcript			.	ENSP00000337512		CCDS10898.1			1	
STAG3	0	LGGM	GRCh37	7	99794889	99794889	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	109	21	.	.	ENST00000426455.1:c.1052C>T	p.Thr351Ile	p.T351I	ENST00000426455	NM_001282716.1	351	aCt/aTt	0	1		UPI000020F6E0	0	NA	ENST00000317296		ENSG00000066923	11356		130	2.38		HGNC	p.T293I		STAG3		SNV							ENST00000394018	protein_coding	getma.org/?cm=var&var=hg19,7,99794889,C,T&fts=all		PROSITE_profiles:PS51425,hmmpanther:PTHR11199,hmmpanther:PTHR11199:SF4,Superfamily_domains:SSF48371		T/I		T	medium	1206/4198		getma.org/?cm=msa&ty=f&p=STAG3_HUMAN&rb=309&re=394&var=T351I	deleterious(0.01)	D6W5U7_HUMAN,C9JYW5_HUMAN,C9JTG4_HUMAN,B4DYS8_HUMAN				STAG3,missense_variant,p.Thr351Ile,ENST00000426455,NM_001282716.1;STAG3,missense_variant,p.Thr351Ile,ENST00000317296,NM_012447.2,NM_001282717.1;STAG3,missense_variant,p.Thr293Ile,ENST00000394018,NM_001282718.1;GATS,downstream_gene_variant,,ENST00000436886,NM_178831.6;STAG3,upstream_gene_variant,,ENST00000440830,;STAG3,upstream_gene_variant,,ENST00000491498,;GATS,downstream_gene_variant,,ENST00000543273,;GATS,downstream_gene_variant,,ENST00000440058,;GATS,downstream_gene_variant,,ENST00000414997,;STAG3,non_coding_transcript_exon_variant,,ENST00000496157,;STAG3,upstream_gene_variant,,ENST00000479359,;STAG3,upstream_gene_variant,,ENST00000477469,;STAG3,upstream_gene_variant,,ENST00000476057,;							MODERATE	1052/3678	T351I	STAG3_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000319318		CCDS34703.1			1	
PCDHAC1	0	LGGM	GRCh37	5	140308522	140308522	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	21	.	.	ENST00000253807.2:c.2045T>A	p.Leu682Ter	p.L682*	ENST00000253807	NM_018898.3	682	tTg/tAg	0	1	1	UPI000013CDF7	0	NA	ENST00000253807		ENSG00000248383	8676		91	0		HGNC	p.L682X		PCDHAC1		SNV							ENST00000409700	protein_coding	getma.org/?cm=var&var=hg19,5,140308522,T,A&fts=all		hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF112,Transmembrane_helices:TMhelix		L/*		A	NA	2045/5299		NA					YES	PCDHAC1,stop_gained,p.Leu682Ter,ENST00000253807,NM_018898.3;PCDHAC1,stop_gained,p.Leu682Ter,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;PCDHA13,intron_variant,,ENST00000289272,NM_018904.2,NM_031865.1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2;PCDHA1,intron_variant,,ENST00000504120,NM_018900.2;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;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,;							HIGH	2045/2892	L682*	PCDC1_HUMAN			Transcript			.	ENSP00000253807		CCDS4241.1			1	
GJA1	0	LGGM	GRCh37	6	121768840	121768840	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	21	.	.	ENST00000282561.3:c.847C>T	p.Pro283Ser	p.P283S	ENST00000282561	NM_000165.3	283	Cct/Tct	0	1	1	UPI000013DCEC	0	getma.org/pdb.php?prot=CXA1_HUMAN&from=232&to=292&var=P283S	ENST00000282561		ENSG00000152661	4274		89	0.975		HGNC	p.P283S		GJA1		SNV			1				ENST00000282561	protein_coding	getma.org/?cm=var&var=hg19,6,121768840,C,T&fts=all		Superfamily_domains:0049114,hmmpanther:PTHR11984,hmmpanther:PTHR11984:SF33		P/S		T	low	1004/3037		getma.org/?cm=msa&ty=f&p=CXA1_HUMAN&rb=232&re=292&var=P283S	tolerated(0.1)	B4DN50_HUMAN,B4DMC9_HUMAN,B4DI81_HUMAN			YES	GJA1,missense_variant,p.Pro283Ser,ENST00000282561,NM_000165.3;							MODERATE	847/1149	P283S	CXA1_HUMAN			Transcript		benign(0.009)	.	ENSP00000282561		CCDS5123.1			1	
HERC1	0	LGGM	GRCh37	15	63986983	63986983	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	98	22	.	.	ENST00000443617.2:c.5232G>A	p.Lys1744=	p.K1744=	ENST00000443617	NM_003922.3	1744	aaG/aaA	0	1	1	UPI0000212760	0		ENST00000443617		ENSG00000103657	4867		120			HGNC	p.K1744K		HERC1		SNV							ENST00000443617	protein_coding			hmmpanther:PTHR22870:SF156,hmmpanther:PTHR22870		K		T		5320/15137				H0YL74_HUMAN,H0YL07_HUMAN,H0YKW7_HUMAN			YES	HERC1,synonymous_variant,p.=,ENST00000443617,NM_003922.3;HERC1,downstream_gene_variant,,ENST00000561400,;RP11-317G6.1,intron_variant,,ENST00000559303,;							LOW	5232/14586		HERC1_HUMAN			Transcript			.	ENSP00000390158		CCDS45277.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37418896	37418896	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	115	22	.	.	ENST00000361713.1:c.129T>A	p.Leu43=	p.L43=	ENST00000361713	NM_052997.2	43	ctT/ctA	0	1	1	UPI0000458879	0		ENST00000361713		ENSG00000148513	17234		137			HGNC	p.L43L		ANKRD30A		SNV							ENST00000361713	protein_coding			PROSITE_profiles:PS50088,PROSITE_profiles:PS50297,hmmpanther:PTHR24118,hmmpanther:PTHR24118:SF11,Gene3D:1.25.40.20,Pfam_domain:PF12796,SMART_domains:SM00248,Superfamily_domains:SSF48403		L		A		228/4405				R4GNA2_HUMAN			YES	ANKRD30A,synonymous_variant,p.=,ENST00000374660,;ANKRD30A,synonymous_variant,p.=,ENST00000602533,;ANKRD30A,synonymous_variant,p.=,ENST00000361713,NM_052997.2;							LOW	129/4026		AN30A_HUMAN			Transcript			.	ENSP00000354432		CCDS7193.1			1	
PRAMEF12	0	LGGM	GRCh37	1	12837171	12837171	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	22	.	.	ENST00000357726.4:c.881T>A	p.Leu294Ter	p.L294*	ENST00000357726	NM_001080830.1	294	tTg/tAg	0	1	1	UPI000013A190	0	NA	ENST00000357726		ENSG00000116726	22125		90	0		HGNC	p.L294X		PRAMEF12		SNV							ENST00000357726	protein_coding	getma.org/?cm=var&var=hg19,1,12837171,T,A&fts=all		hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF30,Gene3D:3.80.10.10,PIRSF_domain:PIRSF038286,Superfamily_domains:SSF52047		L/*		A	NA	908/1786		NA					YES	PRAMEF12,stop_gained,p.Leu294Ter,ENST00000357726,NM_001080830.1;							HIGH	881/1452	L294*	PRA12_HUMAN			Transcript			.	ENSP00000350358		CCDS41254.1			1	
RYR2	0	LGGM	GRCh37	1	237947600	237947600	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	126	22	.	.	ENST00000366574.2:c.12588C>T	p.Thr4196=	p.T4196=	ENST00000366574	NM_001035.2	4196	acC/acT	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		148			HGNC	p.T4196T		RYR2		SNV			1				ENST00000366574	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		T		T		12905/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	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,;							LOW	12588/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
ZDBF2	0	LGGM	GRCh37	2	207174379	207174379	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	103	22	.	.	ENST00000374423.3:c.5127A>T	p.Ala1709=	p.A1709=	ENST00000374423	NM_020923.1	1709	gcA/gcT	0	1	1	UPI000022BDE3	0		ENST00000374423		ENSG00000204186	29313		125			HGNC	p.A1709A		ZDBF2		SNV							ENST00000374423	protein_coding			hmmpanther:PTHR21639:SF2,hmmpanther:PTHR21639		A		T		5513/10282				N0DVB2_HUMAN			YES	ZDBF2,synonymous_variant,p.=,ENST00000374423,NM_020923.1,NM_001285549.1;							LOW	5127/7065		ZDBF2_HUMAN			Transcript			.	ENSP00000363545		CCDS46501.1			1	
NRXN1	0	LGGM	GRCh37	2	50318525	50318525	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	80	22	.	.	ENST00000404971.1:c.3774G>A	p.Thr1258=	p.T1258=	ENST00000404971	NM_001135659.1	1258	acG/acA	0	1		UPI0000130A9D	0		ENST00000406316		ENSG00000179915	8008		102			HGNC	p.T1258T	rs765748728	NRXN1	6.06E-05	SNV			1				ENST00000404971	protein_coding			Gene3D:2.60.120.200,Pfam_domain:PF02210,PROSITE_profiles:PS50025,hmmpanther:PTHR10127,hmmpanther:PTHR10127:SF565,SMART_domains:SM00282,Superfamily_domains:SSF49899		T		T		5131/7505	3.00E-05			Q08AH0_HUMAN				NRXN1,synonymous_variant,p.=,ENST00000404971,NM_001135659.1;NRXN1,synonymous_variant,p.=,ENST00000406316,NM_004801.4;NRXN1,synonymous_variant,p.=,ENST00000401669,;NRXN1,synonymous_variant,p.=,ENST00000405472,;NRXN1,synonymous_variant,p.=,ENST00000342183,NM_138735.2;NRXN1,synonymous_variant,p.=,ENST00000402717,;NRXN1,synonymous_variant,p.=,ENST00000406859,;NRXN1,synonymous_variant,p.=,ENST00000401710,;							LOW	3654/4434		NRX1A_HUMAN			Transcript			.	ENSP00000384311	2.47E-05	CCDS54360.1			1	
TAF1L	0	LGGM	GRCh37	9	32630645	32630645	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	77	22	.	.	ENST00000242310.4:c.4933T>A	p.Leu1645Met	p.L1645M	ENST00000242310	NM_153809.2	1645	Ttg/Atg	0	1	1	UPI000007408A	0	getma.org/pdb.php?prot=TAF1L_HUMAN&from=1615&to=1814&var=L1645M	ENST00000242310		ENSG00000122728	18056		99	1.79		HGNC	p.L1645M		TAF1L		SNV							ENST00000242310	protein_coding	getma.org/?cm=var&var=hg19,9,32630645,A,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13900,hmmpanther:PTHR13900:SF0,PIRSF_domain:PIRSF003047		L/M		T	low	5023/6216		getma.org/?cm=msa&ty=f&p=TAF1L_HUMAN&rb=1615&re=1814&var=L1645M	tolerated(0.16)				YES	TAF1L,missense_variant,p.Leu1645Met,ENST00000242310,NM_153809.2;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,;AL589642.1,non_coding_transcript_exon_variant,,ENST00000541085,;							MODERATE	4933/5481	L1645M	TAF1L_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000418379		CCDS35003.1			1	
MTMR10	0	LGGM	GRCh37	15	31239359	31239359	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	70	22	.	.	ENST00000435680.1:c.1522C>T	p.Pro508Ser	p.P508S	ENST00000435680	NM_017762.2	508	Cct/Tct	0	1	1	UPI00001FE130	0	getma.org/pdb.php?prot=MTMRA_HUMAN&from=221&to=661&var=P508S	ENST00000435680		ENSG00000166912	25999		92	2.165		HGNC	p.P260S		MTMR10		SNV							ENST00000314404	protein_coding	getma.org/?cm=var&var=hg19,15,31239359,G,A&fts=all		Pfam_domain:PF06602,PROSITE_profiles:PS51339,hmmpanther:PTHR10807,hmmpanther:PTHR10807:SF39,Superfamily_domains:SSF52799		P/S		A	medium	1620/4961		getma.org/?cm=msa&ty=f&p=MTMRA_HUMAN&rb=221&re=661&var=P508S	tolerated(0.1)	B4E157_HUMAN			YES	MTMR10,missense_variant,p.Pro508Ser,ENST00000435680,NM_017762.2;MTMR10,missense_variant,p.Pro426Ser,ENST00000563714,;MTMR10,missense_variant,p.Pro273Ser,ENST00000566981,;MTMR10,missense_variant,p.Pro260Ser,ENST00000314404,;MTMR10,3_prime_UTR_variant,,ENST00000425768,;FAN1,downstream_gene_variant,,ENST00000362065,NM_014967.4;MTMR10,3_prime_UTR_variant,,ENST00000568604,;MTMR10,3_prime_UTR_variant,,ENST00000567567,;MTMR10,3_prime_UTR_variant,,ENST00000568547,;MTMR10,non_coding_transcript_exon_variant,,ENST00000566338,;MTMR10,non_coding_transcript_exon_variant,,ENST00000565728,;FAN1,downstream_gene_variant,,ENST00000565280,;							MODERATE	1522/2334	P508S	MTMRA_HUMAN			Transcript		possibly_damaging(0.607)	.	ENSP00000402537		CCDS45204.1			1	
L3MBTL3	0	LGGM	GRCh37	6	130392150	130392150	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	89	22	.	.	ENST00000529410.1:c.1122T>C	p.Gly374=	p.G374=	ENST00000529410		374	ggT/ggC	0	1		UPI00001C1E3E	0		ENST00000361794		ENSG00000198945	23035		111			HGNC	p.G374G		L3MBTL3		SNV							ENST00000361794	protein_coding			Gene3D:2.30.30.160,PROSITE_profiles:PS51079,hmmpanther:PTHR12247,hmmpanther:PTHR12247:SF72,SMART_domains:SM00561,Superfamily_domains:SSF63748		G		C		1292/4197				E9PLL7_HUMAN				L3MBTL3,synonymous_variant,p.=,ENST00000529410,;L3MBTL3,synonymous_variant,p.=,ENST00000368136,;L3MBTL3,synonymous_variant,p.=,ENST00000361794,NM_032438.2;L3MBTL3,synonymous_variant,p.=,ENST00000368139,;L3MBTL3,synonymous_variant,p.=,ENST00000526019,;L3MBTL3,synonymous_variant,p.=,ENST00000533560,NM_001007102.2;L3MBTL3,non_coding_transcript_exon_variant,,ENST00000533890,;L3MBTL3,downstream_gene_variant,,ENST00000531313,;							LOW	1122/2343		LMBL3_HUMAN			Transcript			.	ENSP00000354526		CCDS34537.1			1	
WDR66	0	LGGM	GRCh37	12	122439460	122439460	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	22	.	.	ENST00000288912.4:c.3293A>T	p.Asn1098Ile	p.N1098I	ENST00000288912	NM_144668.5	1098	aAt/aTt	0	1	1	UPI00001AEB2C	0	NA	ENST00000288912		ENSG00000158023	28506		73	0.895		HGNC	p.N1098I		WDR66		SNV							ENST00000288912	protein_coding	getma.org/?cm=var&var=hg19,12,122439460,A,T&fts=all		hmmpanther:PTHR13720:SF13,hmmpanther:PTHR13720,Superfamily_domains:SSF47473		N/I		T	low	4147/4467		getma.org/?cm=msa&ty=f&p=WDR66_HUMAN&rb=922&re=1121&var=N1098I	deleterious(0)				YES	WDR66,missense_variant,p.Asn1098Ile,ENST00000288912,NM_144668.5;WDR66,upstream_gene_variant,,ENST00000545988,;WDR66,non_coding_transcript_exon_variant,,ENST00000428465,;							MODERATE	3293/3450	N1098I	WDR66_HUMAN			Transcript		possibly_damaging(0.578)	.	ENSP00000288912		CCDS41853.1			1	
ANKRD30A	0	LGGM	GRCh37	10	37508370	37508370	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	99	22	.	.	ENST00000361713.1:c.3562T>C	p.Tyr1188His	p.Y1188H	ENST00000361713	NM_052997.2	1188	Tat/Cat	0	1	1	UPI0000458879	0	NA	ENST00000361713		ENSG00000148513	17234		121	1.525		HGNC	p.Y1188H		ANKRD30A		SNV							ENST00000361713	protein_coding	getma.org/?cm=var&var=hg19,10,37508370,T,C&fts=all		Pfam_domain:PF14915		Y/H		C	low	3661/4405		getma.org/?cm=msa&ty=f&p=AN30A_HUMAN&rb=281&re=1396&var=Y1244H	tolerated(0.31)	R4GNA2_HUMAN			YES	ANKRD30A,missense_variant,p.Tyr1307His,ENST00000374660,;ANKRD30A,missense_variant,p.Tyr1188His,ENST00000602533,;ANKRD30A,missense_variant,p.Tyr1188His,ENST00000361713,NM_052997.2;							MODERATE	3562/4026	Y1244H	AN30A_HUMAN			Transcript		benign(0.04)	.	ENSP00000354432		CCDS7193.1			1	
MUC6	0	LGGM	GRCh37	11	1017201	1017201	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	175	22	.	.	ENST00000421673.2:c.5600C>T	p.Ala1867Val	p.A1867V	ENST00000421673	NM_005961.2	1867	gCc/gTc	0	1	1	UPI0000251DBE	0	NA	ENST00000421673		ENSG00000184956	7517		197	0.975		HGNC	p.A1867V		MUC6		SNV							ENST00000421673	protein_coding	getma.org/?cm=var&var=hg19,11,1017201,G,A&fts=all		hmmpanther:PTHR11339,hmmpanther:PTHR11339:SF264		A/V		A	low	5651/8006		getma.org/?cm=msa&ty=f&p=MUC6_HUMAN&rb=1401&re=2199&var=A1867V		Q6W3D1_HUMAN,H9XFC0_HUMAN,H9XFB9_HUMAN,H9XFB8_HUMAN,H9XFB7_HUMAN			YES	MUC6,missense_variant,p.Ala1867Val,ENST00000421673,NM_005961.2;AP2A2,downstream_gene_variant,,ENST00000448903,NM_012305.3,NM_001242837.1;MUC6,upstream_gene_variant,,ENST00000532016,;MUC6,downstream_gene_variant,,ENST00000527242,;							MODERATE	5600/7320	A1867V	MUC6_HUMAN			Transcript		possibly_damaging(0.804)	.	ENSP00000406861		CCDS44513.1			1	
PLXNA1	0	LGGM	GRCh37	3	126732911	126732911	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	22	.	.	ENST00000393409.2:c.2362G>A	p.Val788Ile	p.V788I	ENST00000393409	NM_032242.3	788	Gtc/Atc	0	1	1	UPI00001A7983	0	NA	ENST00000393409		ENSG00000114554	9099		61	1.63		HGNC	p.V765I		PLXNA1		SNV							ENST00000251772	protein_coding	getma.org/?cm=var&var=hg19,3,126732911,G,A&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF35		V/I		A	low	2362/9066		getma.org/?cm=msa&ty=f&p=PLXA1_HUMAN&rb=708&re=807&var=V788I	tolerated(0.13)	Q9NSM6_HUMAN,F8VSZ4_HUMAN,B4DE20_HUMAN,B3KY38_HUMAN			YES	PLXNA1,missense_variant,p.Val788Ile,ENST00000393409,NM_032242.3;PLXNA1,missense_variant,p.Val765Ile,ENST00000251772,;							MODERATE	2362/5691	V788I	PLXA1_HUMAN			Transcript		benign(0.118)	.	ENSP00000377061		CCDS33847.2			1	
TTN	0	LGGM	GRCh37	2	179480061	179480061	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	113	22	.	.	ENST00000589042.1:c.48611C>T	p.Ala16204Val	p.A16204V	ENST00000589042	NM_001267550.1	16204	gCc/gTc	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=14516&to=14600&var=A14563V	ENST00000591111		ENSG00000155657	12403		135	0.55		HGNC	p.A14563V		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179480061,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		A/V		A	neutral	43913/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=14516&re=14600&var=A14563V		C9JQJ2_HUMAN				TTN,missense_variant,p.Ala16204Val,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Ala14563Val,ENST00000591111,;TTN,missense_variant,p.Ala13636Val,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Ala7331Val,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Ala7264Val,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Ala7139Val,ENST00000460472,NM_003319.4;RP11-171I2.4,upstream_gene_variant,,ENST00000605334,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000456053,;TTN-AS1,non_coding_transcript_exon_variant,,ENST00000592750,;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,upstream_gene_variant,,ENST00000604956,;TTN-AS1,downstream_gene_variant,,ENST00000589234,;							MODERATE	43688/103053	A14563V	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SGPL1	0	LGGM	GRCh37	10	72635306	72635306	+	splice_donor_variant	Splice_Site	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	25	23	.	.	ENST00000373202.3:c.1445+1G>A		p.X482_splice	ENST00000373202	NM_003901.3			0	1	1	UPI0000032F1A	0		ENST00000373202		ENSG00000166224	10817		48			HGNC	-		SGPL1		SNV							ENST00000373202	protein_coding							A		-/5745							YES	SGPL1,splice_donor_variant,,ENST00000373202,NM_003901.3;							HIGH	1445/1707		SGPL1_HUMAN			Transcript			.	ENSP00000362298		CCDS31216.1			1	
SNRNP27	0	LGGM	GRCh37	2	70130329	70130329	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	76	23	.	.	ENST00000244227.3:c.365G>A	p.Gly122Asp	p.G122D	ENST00000244227	NM_006857.2	122	gGc/gAc	0	1	1	UPI000006D312	0	NA	ENST00000244227		ENSG00000124380	30240		99	1.72		HGNC	p.G122D		SNRNP27		SNV							ENST00000450162	protein_coding	getma.org/?cm=var&var=hg19,2,70130329,G,A&fts=all		hmmpanther:PTHR31077,Pfam_domain:PF08648		G/D		A	low	790/1802		getma.org/?cm=msa&ty=f&p=SNR27_HUMAN&rb=1&re=155&var=G122D	deleterious(0.02)	A8K513_HUMAN			YES	SNRNP27,missense_variant,p.Gly122Asp,ENST00000244227,NM_006857.2;MXD1,5_prime_UTR_variant,,ENST00000435990,;SNRNP27,intron_variant,,ENST00000409116,;AC019206.1,upstream_gene_variant,,ENST00000599032,;SNRNP27,non_coding_transcript_exon_variant,,ENST00000488986,;SNRNP27,missense_variant,p.Gly122Asp,ENST00000450162,;SNRNP27,upstream_gene_variant,,ENST00000487029,;							MODERATE	365/468	G122D	SNR27_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000244227		CCDS33219.1			1	
ARHGAP28	0	LGGM	GRCh37	18	6898459	6898459	+	intron_variant	Intron	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	78	23	.	.	ENST00000419673.2:c.1553+1834A>T		*518*	ENST00000419673	NM_001010000.2			0	1		UPI0001E5E846	0		ENST00000383472		ENSG00000088756	25509		101			HGNC	p.A685A		ARHGAP28		SNV							ENST00000400091	protein_coding							T		-/2295				J3KTC0_HUMAN,E9PL26_HUMAN				ARHGAP28,synonymous_variant,p.=,ENST00000262227,;ARHGAP28,synonymous_variant,p.=,ENST00000400091,;ARHGAP28,synonymous_variant,p.=,ENST00000532996,;ARHGAP28,synonymous_variant,p.=,ENST00000418986,;ARHGAP28,intron_variant,,ENST00000419673,NM_001010000.2;ARHGAP28,intron_variant,,ENST00000314319,;ARHGAP28,intron_variant,,ENST00000383472,;ARHGAP28,intron_variant,,ENST00000531294,;ARHGAP28,non_coding_transcript_exon_variant,,ENST00000579796,;							MODIFIER	-/2190		RHG28_HUMAN			Transcript			.	ENSP00000372964					1	
TTN	0	LGGM	GRCh37	2	179486028	179486028	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	85	23	.	.	ENST00000589042.1:c.45417T>A	p.Phe15139Leu	p.F15139L	ENST00000589042	NM_001267550.1	15139	ttT/ttA	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=13479&to=13563&var=F13498L	ENST00000591111		ENSG00000155657	12403		108	0.99		HGNC	p.F13498L		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179486028,A,T&fts=all		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		F/L		T	low	40719/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=13479&re=13563&var=F13498L		C9JQJ2_HUMAN				TTN,missense_variant,p.Phe15139Leu,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Phe13498Leu,ENST00000591111,;TTN,missense_variant,p.Phe12571Leu,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Phe6266Leu,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Phe6199Leu,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Phe6074Leu,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,;							MODERATE	40494/103053	F13498L	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
TCHHL1	0	LGGM	GRCh37	1	152059198	152059198	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	104	23	.	.	ENST00000368806.1:c.960A>G	p.Lys320=	p.K320=	ENST00000368806	NM_001008536.1	320	aaA/aaG	0	1	1	UPI0000496834	0		ENST00000368806		ENSG00000182898	31796		127			HGNC	p.K320K		TCHHL1		SNV							ENST00000368806	protein_coding			hmmpanther:PTHR22908,hmmpanther:PTHR22908:SF53		K		C		1025/3603							YES	TCHHL1,synonymous_variant,p.=,ENST00000368806,NM_001008536.1;							LOW	960/2715		TCHL1_HUMAN			Transcript			.	ENSP00000357796		CCDS30857.1			1	
PDZRN4	0	LGGM	GRCh37	12	41967167	41967167	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	104	23	.	.	ENST00000402685.2:c.2586A>T	p.Ala862=	p.A862=	ENST00000402685	NM_001164595.1	862	gcA/gcT	0	1	1	UPI0000D621D0	0		ENST00000402685		ENSG00000165966	30552		127			HGNC	p.A604A		PDZRN4		SNV							ENST00000539469	protein_coding			hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545		A		T		2594/3347				B3KT02_HUMAN			YES	PDZRN4,synonymous_variant,p.=,ENST00000298919,;PDZRN4,synonymous_variant,p.=,ENST00000402685,NM_001164595.1;PDZRN4,synonymous_variant,p.=,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							LOW	2586/3111		PZRN4_HUMAN			Transcript			.	ENSP00000384197		CCDS53777.1			1	
TRIP4	0	LGGM	GRCh37	15	64701918	64701918	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	68	23	.	.	ENST00000261884.3:c.934G>A	p.Glu312Lys	p.E312K	ENST00000261884	NM_016213.4	312	Gag/Aag	0	1	1	UPI0000035D96	0	NA	ENST00000261884		ENSG00000103671	12310		91	2.605		HGNC	p.E312K		TRIP4		SNV							ENST00000560567	protein_coding	getma.org/?cm=var&var=hg19,15,64701918,G,A&fts=all		hmmpanther:PTHR12963,hmmpanther:PTHR12963:SF0,Low_complexity_(Seg):seg		E/K		A	medium	994/2045		getma.org/?cm=msa&ty=f&p=TRIP4_HUMAN&rb=220&re=419&var=E312K	deleterious(0)				YES	TRIP4,missense_variant,p.Glu312Lys,ENST00000261884,NM_016213.4;TRIP4,missense_variant,p.Glu2Lys,ENST00000560475,;TRIP4,non_coding_transcript_exon_variant,,ENST00000559565,;TRIP4,missense_variant,p.Glu312Lys,ENST00000560567,;TRIP4,non_coding_transcript_exon_variant,,ENST00000561265,;TRIP4,downstream_gene_variant,,ENST00000558820,;							MODERATE	934/1746	E312K	TRIP4_HUMAN			Transcript		probably_damaging(0.983)	.	ENSP00000261884		CCDS10194.1			1	
ATG10	0	LGGM	GRCh37	5	81354421	81354421	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	83	23	.	.	ENST00000282185.3:c.216G>A	p.Glu72=	p.E72=	ENST00000282185	NM_031482.4	72	gaG/gaA	0	1	1	UPI0000037BF4	0		ENST00000282185		ENSG00000152348	20315		106			HGNC	p.E72E		ATG10		SNV							ENST00000504770	protein_coding			hmmpanther:PTHR14957		E		A		510/3033				D6RDX3_HUMAN,D6RC89_HUMAN			YES	ATG10,splice_region_variant,p.=,ENST00000282185,NM_031482.4;ATG10,splice_region_variant,p.=,ENST00000458350,NM_001131028.1;ATG10,splice_region_variant,p.=,ENST00000355178,;ATG10,splice_region_variant,p.=,ENST00000513443,;ATG10,splice_region_variant,p.=,ENST00000513634,;ATG10,splice_region_variant,p.=,ENST00000504770,;							LOW	216/663		ATG10_HUMAN			Transcript			.	ENSP00000282185		CCDS4057.1			1	
OAS1	0	LGGM	GRCh37	12	113354478	113354478	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	44	23	.	.	ENST00000445409.2:c.819A>G	p.Thr273=	p.T273=	ENST00000445409	NM_001032409.1	273	acA/acG	0	1		UPI000013C63C	0		ENST00000202917		ENSG00000089127	8086		67			HGNC	p.T273T		OAS1		SNV							ENST00000551241	protein_coding			hmmpanther:PTHR11258,hmmpanther:PTHR11258:SF13,Pfam_domain:PF10421,Gene3D:1px5A02,Superfamily_domains:SSF81631		T		G		1082/1816				Q1P9K4_HUMAN				OAS1,synonymous_variant,p.=,ENST00000452357,NM_002534.2;OAS1,synonymous_variant,p.=,ENST00000202917,NM_016816.2;OAS1,synonymous_variant,p.=,ENST00000445409,NM_001032409.1;OAS1,synonymous_variant,p.=,ENST00000551241,;OAS1,synonymous_variant,p.=,ENST00000550689,;OAS1,synonymous_variant,p.=,ENST00000553152,;OAS1,downstream_gene_variant,,ENST00000550883,;OAS1,upstream_gene_variant,,ENST00000552526,;RP1-71H24.1,intron_variant,,ENST00000552784,;OAS1,non_coding_transcript_exon_variant,,ENST00000549820,;OAS1,upstream_gene_variant,,ENST00000540589,;							LOW	819/1203		OAS1_HUMAN			Transcript			.	ENSP00000202917		CCDS41838.1			1	
OR2T4	0	LGGM	GRCh37	1	248525739	248525739	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	23	.	.	ENST00000366475.1:c.857C>A	p.Ala286Asp	p.A286D	ENST00000366475	NM_001004696.1	286	gCt/gAt	0	1	1	UPI000004B9CC	0	NA	ENST00000366475		ENSG00000196944	15016		71	2.79		HGNC	p.A286D		OR2T4		SNV							ENST00000366475	protein_coding	getma.org/?cm=var&var=hg19,1,248525739,C,A&fts=all		Transmembrane_helices:TMhelix,PROSITE_profiles:PS50262,hmmpanther:PTHR26453:SF200,hmmpanther:PTHR26453,Gene3D:1.20.1070.10,Pfam_domain:PF13853,Superfamily_domains:SSF81321		A/D		A	medium	857/1047		getma.org/?cm=msa&ty=f&p=OR2T4_HUMAN&rb=171&re=315&var=A286D	deleterious(0)				YES	OR2T4,missense_variant,p.Ala286Asp,ENST00000366475,NM_001004696.1;							MODERATE	857/1047	A286D	OR2T4_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000355431		CCDS31113.1			1	
GBF1	0	LGGM	GRCh37	10	104118321	104118321	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	20	23	.	.	ENST00000369983.3:c.846C>T	p.Ala282=	p.A282=	ENST00000369983	NM_004193.2	282	gcC/gcT	0	1	1	UPI000012B228	0		ENST00000369983		ENSG00000107862	4181		43			HGNC	p.A282A		GBF1		SNV							ENST00000369983	protein_coding			hmmpanther:PTHR10663,hmmpanther:PTHR10663:SF138,Low_complexity_(Seg):seg		A		T		1106/6403				Q149P0_HUMAN			YES	GBF1,synonymous_variant,p.=,ENST00000369983,NM_004193.2,NM_001199379.1,NM_001199378.1;GBF1,upstream_gene_variant,,ENST00000476019,;							LOW	846/5580		GBF1_HUMAN			Transcript			.	ENSP00000359000		CCDS7533.1			1	
GK5	0	LGGM	GRCh37	3	141896325	141896325	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	39	23	.	.	ENST00000392993.2:c.1142A>T	p.Gln381Leu	p.Q381L	ENST00000392993	NM_001039547.2	381	cAg/cTg	0	1	1	UPI000069B0CB	0	getma.org/pdb.php?prot=GLPK5_HUMAN&from=291&to=480&var=Q381L	ENST00000392993		ENSG00000175066	28635		62	1.295		HGNC	p.Q35L		GK5		SNV							ENST00000486459	protein_coding	getma.org/?cm=var&var=hg19,3,141896325,T,A&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF02782,PIRSF_domain:PIRSF000538,hmmpanther:PTHR10196,hmmpanther:PTHR10196:SF54,Superfamily_domains:SSF53067		Q/L		A	low	1294/3422		getma.org/?cm=msa&ty=f&p=GLPK5_HUMAN&rb=291&re=480&var=Q381L	deleterious(0)				YES	GK5,missense_variant,p.Gln381Leu,ENST00000392993,NM_001039547.2;GK5,missense_variant,p.Gln35Leu,ENST00000486459,;GK5,missense_variant,p.Gln10Leu,ENST00000463349,;GK5,splice_region_variant,,ENST00000480757,;GK5,splice_region_variant,,ENST00000492097,;GK5,splice_region_variant,,ENST00000460515,;GK5,downstream_gene_variant,,ENST00000460630,;							MODERATE	1142/1590	Q381L	GLPK5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000418001		CCDS33871.1			1	
DNER	0	LGGM	GRCh37	2	230411675	230411675	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	23	.	.	ENST00000341772.4:c.981G>A	p.Thr327=	p.T327=	ENST00000341772	NM_139072.3	327	acG/acA	0	1	1	UPI0000048EB8	0		ENST00000341772		ENSG00000187957	24456		86			HGNC	p.T327T	rs375308811	DNER		SNV	T:0.0002			0.000577			ENST00000341772	protein_coding		T:0.0023	Gene3D:2.10.25.10,PROSITE_profiles:PS50026,hmmpanther:PTHR24044,hmmpanther:PTHR24044:SF58,SMART_domains:SM00181,Superfamily_domains:SSF57196		T	T:0	T		1116/3260				B4E399_HUMAN	T:0	T:0	YES	DNER,synonymous_variant,p.=,ENST00000341772,NM_139072.3;		T:0.0006					LOW	981/2214		DNER_HUMAN		T:0	Transcript			common_variant	ENSP00000345229	4.94E-05	CCDS33390.1		T:0	1	
RBAK	0	LGGM	GRCh37	7	5104163	5104163	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	96	24	.	.	ENST00000396912.1:c.1076A>G	p.His359Arg	p.H359R	ENST00000396912	NM_021163.3	359	cAt/cGt	0	1		UPI000004A03E	0	getma.org/pdb.php?prot=RBAK_HUMAN&from=359&to=384&var=H359R	ENST00000353796		ENSG00000146587	17680		120	1.255		HGNC	p.H359R		RBAK		SNV							ENST00000396912	protein_coding	getma.org/?cm=var&var=hg19,7,5104163,A,G&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24392,hmmpanther:PTHR24392:SF18,SMART_domains:SM00355,Superfamily_domains:SSF57667		H/R		G	low	1400/4125		getma.org/?cm=msa&ty=f&p=RBAK_HUMAN&rb=339&re=404&var=H359R	tolerated(0.05)					RBAK,missense_variant,p.His359Arg,ENST00000396912,NM_021163.3;RBAK,missense_variant,p.His359Arg,ENST00000353796,NM_001204456.1;RBAK-RBAKDN,intron_variant,,ENST00000407184,;RBAK-RBAKDN,intron_variant,,ENST00000396904,NM_001204513.1;RBAK,downstream_gene_variant,,ENST00000476992,;							MODERATE	1076/2145	H359R	RBAK_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000275423		CCDS5337.1			1	
PCNX	0	LGGM	GRCh37	14	71485809	71485809	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	54	24	.	.	ENST00000304743.2:c.3080G>A	p.Gly1027Glu	p.G1027E	ENST00000304743	NM_014982.2	1027	gGa/gAa	0	1	1	UPI000013E9BB	0	NA	ENST00000304743		ENSG00000100731	19740		78	2.56		HGNC	p.G1027E		PCNX		SNV							ENST00000304743	protein_coding	getma.org/?cm=var&var=hg19,14,71485809,G,A&fts=all		hmmpanther:PTHR12372,hmmpanther:PTHR12372:SF2		G/E		A	medium	3526/12919		getma.org/?cm=msa&ty=f&p=PCX1_HUMAN&rb=1001&re=1200&var=G1027E	deleterious(0.01)	Q05BT4_HUMAN			YES	PCNX,missense_variant,p.Gly1027Glu,ENST00000304743,NM_014982.2;PCNX,missense_variant,p.Gly1027Glu,ENST00000238570,;PCNX,missense_variant,p.Gly916Glu,ENST00000439984,;PCNX,missense_variant,p.Gly86Glu,ENST00000554691,;							MODERATE	3080/7026	G1027E	PCX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000304192		CCDS9806.1			1	
EIF3D	0	LGGM	GRCh37	22	36912534	36912534	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	88	24	.	.	ENST00000216190.8:c.1197G>A	p.Trp399Ter	p.W399*	ENST00000216190	NM_003753.3	399	tgG/tgA	0	1	1	UPI000012D306	0	NA	ENST00000216190		ENSG00000100353	3278		112	0		HGNC	p.W399X		EIF3D		SNV							ENST00000405442	protein_coding	getma.org/?cm=var&var=hg19,22,36912534,C,T&fts=all		HAMAP:MF_03003,Pfam_domain:PF05091,PIRSF_domain:PIRSF016281,hmmpanther:PTHR12399		W/*		T	NA	1568/2155		NA		B4E1K8_HUMAN,B0QYA8_HUMAN,B0QYA6_HUMAN,B0QYA5_HUMAN,B0QYA4_HUMAN,B0QYA3_HUMAN,A8MWD3_HUMAN			YES	EIF3D,stop_gained,p.Trp399Ter,ENST00000216190,NM_003753.3;EIF3D,stop_gained,p.Trp399Ter,ENST00000405442,;EIF3D,stop_gained,p.Trp350Ter,ENST00000541106,;EIF3D,downstream_gene_variant,,ENST00000455547,;EIF3D,downstream_gene_variant,,ENST00000457241,;EIF3D,upstream_gene_variant,,ENST00000478547,;EIF3D,3_prime_UTR_variant,,ENST00000458572,;EIF3D,non_coding_transcript_exon_variant,,ENST00000462794,;EIF3D,non_coding_transcript_exon_variant,,ENST00000426531,;EIF3D,upstream_gene_variant,,ENST00000462641,;							HIGH	1197/1647	W399*	EIF3D_HUMAN			Transcript			.	ENSP00000216190		CCDS13930.1			1	
ZNF268	0	LGGM	GRCh37	12	133779311	133779311	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	24	.	.	ENST00000536435.2:c.1039C>T	p.Leu347Phe	p.L347F	ENST00000536435	NM_003415.2	347	Ctt/Ttt	0	1		UPI000013C33E	0	getma.org/pdb.php?prot=ZN268_HUMAN&from=346&to=371&var=L347F	ENST00000228289		ENSG00000090612	13061		86	1.35		HGNC	p.L347F		ZNF268		SNV							ENST00000536435	protein_coding	getma.org/?cm=var&var=hg19,12,133779311,C,T&fts=all		Superfamily_domains:SSF57667,SMART_domains:SM00355,Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF255,PROSITE_profiles:PS50157		L/F		T	low	1245/3543		getma.org/?cm=msa&ty=f&p=ZN268_HUMAN&rb=326&re=391&var=L347F	deleterious(0.02)	Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN				ZNF268,missense_variant,p.Leu347Phe,ENST00000536435,NM_003415.2,NM_001165885.1;ZNF268,missense_variant,p.Leu347Phe,ENST00000228289,NM_001165882.2,NM_001165881.2;ZNF268,missense_variant,p.Leu186Phe,ENST00000537565,;ZNF268,3_prime_UTR_variant,,ENST00000541009,NM_152943.2;ZNF268,3_prime_UTR_variant,,ENST00000542986,;ZNF268,3_prime_UTR_variant,,ENST00000536899,NM_001165884.2;CTD-2140B24.4,downstream_gene_variant,,ENST00000540096,;ZNF268,downstream_gene_variant,,ENST00000416488,;ZNF268,downstream_gene_variant,,ENST00000542711,NM_001165886.1;ZNF268,downstream_gene_variant,,ENST00000541211,;ZNF268,downstream_gene_variant,,ENST00000539248,NM_001165883.1;ZNF268,downstream_gene_variant,,ENST00000500625,;ZNF268,downstream_gene_variant,,ENST00000592241,NM_001165887.1;ZNF268,downstream_gene_variant,,ENST00000591951,;ZNF268,downstream_gene_variant,,ENST00000585488,;ZNF268,downstream_gene_variant,,ENST00000588312,;ZNF268,downstream_gene_variant,,ENST00000534953,;							MODERATE	1039/2844	L347F	ZN268_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000228289		CCDS45012.1			1	
GPLD1	0	LGGM	GRCh37	6	24433450	24433450	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	80	24	.	.	ENST00000230036.1:c.2401G>T	p.Gly801Trp	p.G801W	ENST00000230036	NM_001503.3	801	Ggg/Tgg	0	1	1	UPI000013C91C	0	NA	ENST00000230036		ENSG00000112293	4459		104	2.34		HGNC	p.G801W		GPLD1		SNV							ENST00000230036	protein_coding	getma.org/?cm=var&var=hg19,6,24433450,C,A&fts=all		PROSITE_profiles:PS51470,hmmpanther:PTHR23221:SF7,hmmpanther:PTHR23221,Gene3D:3nigC00,Superfamily_domains:SSF69318,Prints_domain:PR00718		G/W		A	medium	2512/3489		getma.org/?cm=msa&ty=f&p=PHLD_HUMAN&rb=751&re=840&var=G801W	deleterious(0)				YES	GPLD1,missense_variant,p.Gly801Trp,ENST00000230036,NM_001503.3;GPLD1,non_coding_transcript_exon_variant,,ENST00000492917,;							MODERATE	2401/2523	G801W	PHLD_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000230036		CCDS4553.1			1	
SLC7A13	0	LGGM	GRCh37	8	87229916	87229916	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	24	.	.	ENST00000297524.3:c.962G>A	p.Gly321Asp	p.G321D	ENST00000297524	NM_138817.2	321	gGc/gAc	0	1	1	UPI000006DF39	0	getma.org/pdb.php?prot=S7A13_HUMAN&from=13&to=438&var=G321D	ENST00000297524		ENSG00000164893	23092		98	3.09		HGNC	p.G321D		SLC7A13		SNV							ENST00000297524	protein_coding	getma.org/?cm=var&var=hg19,8,87229916,C,T&fts=all		hmmpanther:PTHR11785,hmmpanther:PTHR11785:SF238,Pfam_domain:PF13520,PIRSF_domain:PIRSF006060		G/D		T	medium	1066/1878		getma.org/?cm=msa&ty=f&p=S7A13_HUMAN&rb=13&re=438&var=G321D	deleterious(0.02)				YES	SLC7A13,missense_variant,p.Gly321Asp,ENST00000297524,NM_138817.2;SLC7A13,missense_variant,p.Gly312Asp,ENST00000419776,;SLC7A13,non_coding_transcript_exon_variant,,ENST00000520624,;							MODERATE	962/1413	G321D	S7A13_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000297524		CCDS34917.1			1	
CNTNAP1	0	LGGM	GRCh37	17	40843923	40843923	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	110	24	.	.	ENST00000264638.4:c.2444C>T	p.Thr815Ile	p.T815I	ENST00000264638	NM_003632.2	815	aCc/aTc	0	1	1	UPI00001285F6	0	NA	ENST00000264638		ENSG00000108797	8011		134	2.74		HGNC	p.T815I		CNTNAP1		SNV			1				ENST00000264638	protein_coding	getma.org/?cm=var&var=hg19,17,40843923,C,T&fts=all		PROSITE_profiles:PS50025,hmmpanther:PTHR10127:SF584,hmmpanther:PTHR10127,Gene3D:2.60.120.200,Pfam_domain:PF02210,SMART_domains:SM00282,Superfamily_domains:SSF49899		T/I		T	medium	2661/5276		getma.org/?cm=msa&ty=f&p=CNTP1_HUMAN&rb=813&re=939&var=T815I	deleterious(0)				YES	CNTNAP1,missense_variant,p.Thr815Ile,ENST00000264638,NM_003632.2;CTD-3193K9.3,intron_variant,,ENST00000592440,;CNTNAP1,3_prime_UTR_variant,,ENST00000591662,;CNTNAP1,downstream_gene_variant,,ENST00000586801,;CNTNAP1,downstream_gene_variant,,ENST00000585534,;							MODERATE	2444/4155	T815I	CNTP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000264638		CCDS11436.1			1	
TRAF1	0	LGGM	GRCh37	9	123671622	123671622	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	80	24	.	.	ENST00000373887.3:c.918C>T	p.Cys306=	p.C306=	ENST00000373887	NM_005658.4	306	tgC/tgT	0	1	1	UPI0000001079	0		ENST00000373887		ENSG00000056558	12031		104			HGNC	p.C306C		TRAF1		SNV							ENST00000373887	protein_coding			Gene3D:2.60.210.10,Pfam_domain:PF00917,PIRSF_domain:PIRSF015614,PROSITE_profiles:PS50144,hmmpanther:PTHR10131,hmmpanther:PTHR10131:SF29,SMART_domains:SM00061,Superfamily_domains:SSF49599		C		A		3364/6324							YES	TRAF1,synonymous_variant,p.=,ENST00000373887,NM_005658.4;TRAF1,synonymous_variant,p.=,ENST00000540010,NM_001190945.1;TRAF1,synonymous_variant,p.=,ENST00000546084,NM_001190947.1;							LOW	918/1251		TRAF1_HUMAN			Transcript			.	ENSP00000362994		CCDS6825.1			1	
NUTM2G	0	LGGM	GRCh37	9	99697703	99697703	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	63	24	.	.	ENST00000372322.3:c.807C>T	p.Asn269=	p.N269=	ENST00000372322	NM_001170741.1	269	aaC/aaT	0	1	1	UPI000175026B	0		ENST00000372322		ENSG00000188152	23449		87			HGNC	p.N269N		NUTM2G		SNV							ENST00000372322	protein_coding			hmmpanther:PTHR22879:SF12,hmmpanther:PTHR22879,Pfam_domain:PF12881		N		T		828/2516							YES	NUTM2G,synonymous_variant,p.=,ENST00000354649,NM_001045477.2;NUTM2G,synonymous_variant,p.=,ENST00000372322,NM_001170741.1;HIATL2,intron_variant,,ENST00000506067,;							LOW	807/2226		NTM2G_HUMAN			Transcript			.	ENSP00000361397		CCDS55329.1			1	
ZFYVE9	0	LGGM	GRCh37	1	52704654	52704654	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	42	24	.	.	ENST00000287727.3:c.1565A>T	p.Gln522Leu	p.Q522L	ENST00000287727	NM_004799.3	522	cAg/cTg	0	1	1	UPI0000001620	0	NA	ENST00000287727		ENSG00000157077	6775		66	0.805		HGNC	p.Q522L		ZFYVE9		SNV							ENST00000371591	protein_coding	getma.org/?cm=var&var=hg19,1,52704654,A,T&fts=all		PIRSF_domain:PIRSF037289		Q/L		T	low	1737/4914		getma.org/?cm=msa&ty=f&p=ZFYV9_HUMAN&rb=1&re=664&var=Q522L	deleterious_low_confidence(0.01)				YES	ZFYVE9,missense_variant,p.Gln522Leu,ENST00000287727,NM_004799.3;ZFYVE9,missense_variant,p.Gln522Leu,ENST00000371591,;ZFYVE9,missense_variant,p.Gln522Leu,ENST00000357206,NM_007324.3;ZFYVE9,non_coding_transcript_exon_variant,,ENST00000361625,;							MODERATE	1565/4278	Q522L	ZFYV9_HUMAN			Transcript		possibly_damaging(0.58)	.	ENSP00000287727		CCDS563.1			1	
CCR2	0	LGGM	GRCh37	3	46399029	46399029	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	24	.	.	ENST00000292301.4:c.11C>T	p.Thr4Ile	p.T4I	ENST00000292301	NM_001123041.2	4	aCa/aTa	0	1	1	UPI0000043585	0	NA	ENST00000292301		ENSG00000121807	1603		83	1.04		HGNC	p.T4I		CCR2		SNV			1				ENST00000292301	protein_coding	getma.org/?cm=var&var=hg19,3,46399029,C,T&fts=all		Prints_domain:PR01107,hmmpanther:PTHR24227,hmmpanther:PTHR24227:SF73		T/I		T	low	496/2671		getma.org/?cm=msa&ty=f&p=CCR2_HUMAN&rb=1&re=58&var=T4I	deleterious_low_confidence(0)	L7REX9_HUMAN,E9PH76_HUMAN,B4XH69_HUMAN			YES	CCR2,missense_variant,p.Thr4Ile,ENST00000292301,NM_001123041.2;CCR2,missense_variant,p.Thr4Ile,ENST00000445132,NM_001123396.1;CCR2,missense_variant,p.Thr4Ile,ENST00000400888,;CCR2,missense_variant,p.Thr4Ile,ENST00000421659,;CCR2,intron_variant,,ENST00000465202,;							MODERATE	11/1125	T4I	CCR2_HUMAN			Transcript		benign(0.383)	.	ENSP00000292301		CCDS43078.1			1	
ARHGEF15	0	LGGM	GRCh37	17	8216864	8216864	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	30	24	.	.	ENST00000361926.3:c.980T>A	p.Val327Glu	p.V327E	ENST00000361926	NM_173728.3	327	gTg/gAg	0	1	1	UPI000013D2C0	0	NA	ENST00000361926		ENSG00000198844	15590		54	0.345		HGNC	p.V327E		ARHGEF15		SNV							ENST00000361926	protein_coding	getma.org/?cm=var&var=hg19,17,8216864,T,A&fts=all		hmmpanther:PTHR12845,hmmpanther:PTHR12845:SF7,Low_complexity_(Seg):seg		V/E		A	neutral	1090/4154		getma.org/?cm=msa&ty=f&p=ARHGF_HUMAN&rb=201&re=400&var=V327E	tolerated(0.19)	J3QS60_HUMAN,J3KT46_HUMAN			YES	ARHGEF15,missense_variant,p.Val327Glu,ENST00000361926,NM_173728.3;ARHGEF15,missense_variant,p.Val327Glu,ENST00000421050,NM_025014.1;ARHGEF15,downstream_gene_variant,,ENST00000579439,;ARHGEF15,downstream_gene_variant,,ENST00000583529,;AC135178.7,downstream_gene_variant,,ENST00000458568,;ARHGEF15,missense_variant,p.Val87Glu,ENST00000581809,;ARHGEF15,non_coding_transcript_exon_variant,,ENST00000455564,;ARHGEF15,upstream_gene_variant,,ENST00000578286,;							MODERATE	980/2526	V327E	ARHGF_HUMAN			Transcript		benign(0.002)	.	ENSP00000355026		CCDS11139.1			1	
PLCL2	0	LGGM	GRCh37	3	17051452	17051452	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	87	24	.	.	ENST00000418129.2:c.236G>A	p.Ser79Asn	p.S79N	ENST00000418129	NM_001144382.1	79	aGc/aAc	0	1	1	UPI0000141145	0		ENST00000418129		ENSG00000154822	9064		111			HGNC	p.S79N		PLCL2		SNV							ENST00000418129	protein_coding			Gene3D:2.30.29.30,PROSITE_profiles:PS50003,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF84,SMART_domains:SM00233,Superfamily_domains:SSF50729		S/N		A		701/4153			tolerated(0.59)				YES	PLCL2,missense_variant,p.Ser79Asn,ENST00000418129,NM_001144382.1;PLCL2,missense_variant,p.Ser79Asn,ENST00000432376,NM_015184.5;PLCL2,missense_variant,p.Ser79Asn,ENST00000396755,;PLCL2,upstream_gene_variant,,ENST00000419842,;PLCL2,non_coding_transcript_exon_variant,,ENST00000460467,;							MODERATE	236/3006		PLCL2_HUMAN			Transcript		benign(0.006)	.	ENSP00000409637		CCDS33713.1			1	
SUPT20H	0	LGGM	GRCh37	13	37586379	37586379	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	153	24	.	.	ENST00000350612.6:c.2048C>T	p.Ala683Val	p.A683V	ENST00000350612	NM_001014286.2	683	gCt/gTt	0	1	1	UPI00004566E3	0	NA	ENST00000350612		ENSG00000102710	20596		177	1.295		HGNC	p.A762V		SUPT20H		SNV							ENST00000475892	protein_coding	getma.org/?cm=var&var=hg19,13,37586379,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR13526,hmmpanther:PTHR13526:SF3		A/V		A	low	2269/2739		getma.org/?cm=msa&ty=f&p=FA48A_HUMAN&rb=628&re=779&var=A683V	tolerated(1)				YES	SUPT20H,missense_variant,p.Ala684Val,ENST00000360252,NM_001278481.1,NM_017569.3;SUPT20H,missense_variant,p.Ala762Val,ENST00000475892,NM_001278480.1;SUPT20H,missense_variant,p.Ala683Val,ENST00000350612,NM_001014286.2;SUPT20H,missense_variant,p.Ala684Val,ENST00000356185,;SUPT20H,missense_variant,p.Ala684Val,ENST00000464744,NM_001278482.1;SUPT20H,missense_variant,p.Ala282Val,ENST00000469488,;EXOSC8,downstream_gene_variant,,ENST00000389704,NM_181503.2;EXOSC8,downstream_gene_variant,,ENST00000481013,;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,;EXOSC8,downstream_gene_variant,,ENST00000490537,;EXOSC8,downstream_gene_variant,,ENST00000495092,;EXOSC8,downstream_gene_variant,,ENST00000239893,;SUPT20H,upstream_gene_variant,,ENST00000472948,;							MODERATE	2048/2340	A683V	SP20H_HUMAN			Transcript		benign(0.017)	.	ENSP00000218894		CCDS31959.1			1	
MGAM	0	LGGM	GRCh37	7	141795478	141795478	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	102	24	.	.	ENST00000549489.2:c.4884G>A	p.Thr1628=	p.T1628=	ENST00000549489	NM_004668.2	1628	acG/acA	0	1	1	UPI000183CB7B	0		ENST00000549489		ENSG00000257335	7043		126			HGNC	p.T2525T	rs567813582	MGAM	6.06E-05	SNV							ENST00000475668	protein_coding		A:0	Superfamily_domains:SSF51445,Pfam_domain:PF01055		T		A		4979/6525	4.50E-05			Q8TE25_HUMAN,E9PEQ5_HUMAN,E7EW87_HUMAN	A:0	A:0	YES	MGAM,synonymous_variant,p.=,ENST00000475668,;MGAM,synonymous_variant,p.=,ENST00000549489,NM_004668.2;MGAM,non_coding_transcript_exon_variant,,ENST00000485078,;	0.000232	A:0.0002					LOW	4884/5574		MGA_HUMAN		A:0	Transcript			.	ENSP00000447378	4.96E-05	CCDS47727.1		A:0.001	1	
SALL4	0	LGGM	GRCh37	20	50407324	50407324	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	24	.	.	ENST00000217086.4:c.1698C>T	p.Asn566=	p.N566=	ENST00000217086	NM_020436.3	566	aaC/aaT	0	1	1	UPI0000135527	0		ENST00000217086		ENSG00000101115	15924		67			HGNC	p.N566N	rs774733955	SALL4		SNV			1				ENST00000217086	protein_coding			Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF19,SMART_domains:SM00355,Superfamily_domains:SSF57667		N		A		1810/3497							YES	SALL4,synonymous_variant,p.=,ENST00000217086,NM_020436.3;SALL4,intron_variant,,ENST00000395997,;SALL4,intron_variant,,ENST00000371539,;SALL4,downstream_gene_variant,,ENST00000483130,;SALL4,downstream_gene_variant,,ENST00000481363,;	0.000462						LOW	1698/3162		SALL4_HUMAN			Transcript			common_variant	ENSP00000217086	3.29E-05	CCDS13438.1			1	
IGKV1-17	0	LGGM	GRCh37	2	89417283	89417283	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	25	.	.	ENST00000490686.1:c.26T>A	p.Leu9His	p.L9H	ENST00000490686		9	cTc/cAc	0	1	1	UPI000011618B	0		ENST00000490686		ENSG00000240382	5733		106			HGNC	p.L9H		IGKV1-17		SNV							ENST00000490686	IG_V_gene			Gene3D:2.60.40.10,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF122,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM		L/H		T		53/378			deleterious(0)				YES	IGKV1-17,missense_variant,p.Leu9His,ENST00000490686,;							MODERATE	26/351					Transcript		probably_damaging(0.965)	.	ENSP00000418357					1	
PCDHB12	0	LGGM	GRCh37	5	140589880	140589880	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	119	25	.	.	ENST00000239450.2:c.1401C>T	p.Ala467=	p.A467=	ENST00000239450	NM_018932.3	467	gcC/gcT	0	1	1	UPI000000DAFD	0		ENST00000239450		ENSG00000120328	8683		144			HGNC	p.A467A		PCDHB12		SNV							ENST00000239450	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF59,Superfamily_domains:SSF49313		A		T		1590/3406				B4DDU1_HUMAN			YES	PCDHB12,synonymous_variant,p.=,ENST00000239450,NM_018932.3;PCDHB12,synonymous_variant,p.=,ENST00000541609,;PCDHB13,upstream_gene_variant,,ENST00000341948,NM_018933.2;							LOW	1401/2388		PCDBC_HUMAN			Transcript			.	ENSP00000239450		CCDS4254.1			1	
C12orf55	0	LGGM	GRCh37	12	97051712	97051712	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	25	.	.	ENST00000524981.4:c.5153A>G	p.Lys1718Arg	p.K1718R	ENST00000524981		1718	aAa/aGa	0	1	1	UPI0001F77A4D	0	NA	ENST00000524981		ENSG00000188596	26456		84	1.5		HGNC	p.K1718R		C12orf55		SNV							ENST00000524981	protein_coding	getma.org/?cm=var&var=hg19,12,97051712,A,G&fts=all				K/R		G	low	5176/9766		getma.org/?cm=msa&ty=f&p=E9PJL5_HUMAN&rb=1580&re=1779&var=K1718R	tolerated(0.45)	R4GNI2_HUMAN,E9PJL5_HUMAN			YES	C12orf55,missense_variant,p.Lys1718Arg,ENST00000524981,;C12orf55,non_coding_transcript_exon_variant,,ENST00000342887,;							MODERATE	5153/9291	K1718R				Transcript		benign(0.33)	.	ENSP00000431759					1	
AVPR1B	0	LGGM	GRCh37	1	206224455	206224455	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	139	25	.	.	ENST00000367126.4:c.15T>A	p.Pro5=	p.P5=	ENST00000367126	NM_000707.3	5	ccT/ccA	0	1	1	UPI000005043A	0		ENST00000367126		ENSG00000198049	896		164			HGNC	p.P5P		AVPR1B		SNV							ENST00000367126	protein_coding			hmmpanther:PTHR24241,hmmpanther:PTHR24241:SF18,Prints_domain:PR00897		P		A		480/2237							YES	AVPR1B,synonymous_variant,p.=,ENST00000367126,NM_000707.3;RP11-38J22.3,upstream_gene_variant,,ENST00000425896,;							LOW	15/1275		V1BR_HUMAN			Transcript			.	ENSP00000356094		CCDS30994.1			1	
ZNF404	0	LGGM	GRCh37	19	44384169	44384169	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	153	25	.	.	ENST00000587539.1:c.129C>T	p.Val43=	p.V43=	ENST00000587539	NM_001033719.2	43	gtC/gtT	0	1	1	UPI00001D8172	0		ENST00000587539		ENSG00000176222	19417		178			HGNC	p.V43V	rs758930025	ZNF404		SNV							ENST00000587539	protein_coding			Superfamily_domains:0044637,SMART_domains:SM00349,Pfam_domain:PF01352,hmmpanther:PTHR24381,hmmpanther:PTHR24381:SF53,PROSITE_profiles:PS50805		V		A		129/1851	1.50E-05			Q86WM5_HUMAN,K7ELF2_HUMAN			YES	ZNF404,synonymous_variant,p.=,ENST00000587539,NM_001033719.2;ZNF404,synonymous_variant,p.=,ENST00000324394,;ZNF404,downstream_gene_variant,,ENST00000588094,;							LOW	129/1659					Transcript			.	ENSP00000466051	8.24E-06	CCDS59394.1			1	
OGT	0	LGGM	GRCh37	X	70787869	70787869	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	32	25	.	.	ENST00000373719.3:c.2869G>A	p.Ala957Thr	p.A957T	ENST00000373719	NM_181673.2	957	Gca/Aca	0	1	1	UPI0000073C9F	0	getma.org/pdb.php?prot=OGT1_HUMAN&from=556&to=1024&var=A957T	ENST00000373719		ENSG00000147162	8127		57	1.875		HGNC	p.A947T		OGT		SNV							ENST00000373701	protein_coding	getma.org/?cm=var&var=hg19,X,70787869,G,A&fts=all		hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF369,Pfam_domain:PF13844		A/T		A	low	3086/5461		getma.org/?cm=msa&ty=f&p=OGT1_HUMAN&rb=556&re=1024&var=A957T	tolerated(0.09)	C9JZL3_HUMAN			YES	OGT,missense_variant,p.Ala957Thr,ENST00000373719,NM_181673.2,NM_181672.2;OGT,missense_variant,p.Ala947Thr,ENST00000373701,;OGT,non_coding_transcript_exon_variant,,ENST00000488174,;OGT,downstream_gene_variant,,ENST00000474633,;							MODERATE	2869/3141	A957T	OGT1_HUMAN			Transcript		benign(0.008)	.	ENSP00000362824		CCDS14414.1			1	
ZMYM2	0	LGGM	GRCh37	13	20577042	20577042	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	112	25	.	.	ENST00000382869.3:c.900G>A	p.Gly300=	p.G300=	ENST00000382869	NM_001190965.1	300	ggG/ggA	0	1		UPI000013C318	0		ENST00000382871		ENSG00000121741	12989		137			HGNC	p.G300G		ZMYM2		SNV							ENST00000382871	protein_coding			hmmpanther:PTHR11697,hmmpanther:PTHR11697:SF73		G		A		1085/5051								ZMYM2,synonymous_variant,p.=,ENST00000382869,NM_001190965.1,NM_003453.3,NM_197968.2;ZMYM2,synonymous_variant,p.=,ENST00000382874,NM_001190964.1;ZMYM2,synonymous_variant,p.=,ENST00000382871,;ZMYM2,synonymous_variant,p.=,ENST00000382881,;ZMYM2,upstream_gene_variant,,ENST00000382883,;							LOW	900/4134		ZMYM2_HUMAN			Transcript			.	ENSP00000372324		CCDS45016.1			1	
TSHZ2	0	LGGM	GRCh37	20	51871716	51871716	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	85	25	.	.	ENST00000371497.5:c.1719C>T	p.Asn573=	p.N573=	ENST00000371497	NM_173485.5	573	aaC/aaT	0	1	1	UPI0000206747	0		ENST00000371497		ENSG00000182463	13010		110			HGNC	p.N573N		TSHZ2		SNV							ENST00000371497	protein_coding			hmmpanther:PTHR12487:SF3,hmmpanther:PTHR12487		N		T		2606/12187				S4R3C8_HUMAN			YES	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,;							LOW	1719/3105		TSH2_HUMAN			Transcript			.	ENSP00000360552		CCDS33490.1			1	
PLCE1	0	LGGM	GRCh37	10	96066182	96066182	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	43	26	.	.	ENST00000371380.3:c.5623-2A>T		p.X1875_splice	ENST00000371380				0	1		UPI00001F93EE	0		ENST00000260766		ENSG00000138193	17175		69			HGNC	-		PLCE1		SNV			1				ENST00000260766	protein_coding							T		-/7992				B7ZM61_HUMAN				PLCE1,splice_acceptor_variant,,ENST00000371380,;PLCE1,splice_acceptor_variant,,ENST00000260766,NM_016341.3;PLCE1,splice_acceptor_variant,,ENST00000371375,;PLCE1,splice_acceptor_variant,,ENST00000371385,NM_001165979.1;							HIGH	5623/6909		PLCE1_HUMAN			Transcript			.	ENSP00000260766		CCDS41552.1			1	
ERCC2	0	LGGM	GRCh37	19	45862172	45862172	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	26	.	.	ENST00000391945.4:c.1238-1215A>T		*413*	ENST00000391945	NM_000400.3			0	1	1	UPI0000139012	0		ENST00000391945		ENSG00000104884	3434		101			HGNC	-		ERCC2		SNV			1				ENST00000485403	protein_coding							A		-/4153				K7EIT8_HUMAN,A8MX75_HUMAN			YES	ERCC2,splice_acceptor_variant,,ENST00000485403,NM_001130867.1;ERCC2,splice_acceptor_variant,,ENST00000391940,;ERCC2,intron_variant,,ENST00000391945,NM_000400.3;ERCC2,intron_variant,,ENST00000391941,;ERCC2,intron_variant,,ENST00000391944,;ERCC2,downstream_gene_variant,,ENST00000221481,;ERCC2,non_coding_transcript_exon_variant,,ENST00000588652,;ERCC2,intron_variant,,ENST00000391942,;ERCC2,intron_variant,,ENST00000587376,;							MODIFIER	-/2283		ERCC2_HUMAN			Transcript			.	ENSP00000375809		CCDS33049.1			1	
TTN	0	LGGM	GRCh37	2	179477105	179477105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	102	26	.	.	ENST00000589042.1:c.50147C>T	p.Thr16716Ile	p.T16716I	ENST00000589042	NM_001267550.1	16716	aCt/aTt	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=15012&to=15096&var=T15075I	ENST00000591111		ENSG00000155657	12403		128	-0.41		HGNC	p.T15075I		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179477105,G,A&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		T/I		A	neutral	45449/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=15012&re=15096&var=T15075I		C9JQJ2_HUMAN				TTN,missense_variant,p.Thr16716Ile,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Thr15075Ile,ENST00000591111,;TTN,missense_variant,p.Thr14148Ile,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Thr7843Ile,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Thr7776Ile,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Thr7651Ile,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,;							MODERATE	45224/103053	T15075I	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
TTN	0	LGGM	GRCh37	2	179409153	179409153	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	99	26	.	.	ENST00000589042.1:c.95803T>A	p.Tyr31935Asn	p.Y31935N	ENST00000589042	NM_001267550.1	31935	Tac/Aac	0	1		UPI00025287CD	0	getma.org/pdb.php?prot=TITIN_HUMAN&from=30270&to=30356&var=Y30294N	ENST00000591111		ENSG00000155657	12403		125	1.15		HGNC	p.Y30294N		TTN		SNV			1				ENST00000591111	protein_coding	getma.org/?cm=var&var=hg19,2,179409153,A,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR13817,hmmpanther:PTHR13817:SF6,SMART_domains:SM00060,Superfamily_domains:SSF49265		Y/N		T	low	91105/104301		getma.org/?cm=msa&ty=f&p=TITIN_HUMAN&rb=30270&re=30356&var=Y30294N		C9JQJ2_HUMAN				TTN,missense_variant,p.Tyr31935Asn,ENST00000589042,NM_001267550.1;TTN,missense_variant,p.Tyr30294Asn,ENST00000591111,;TTN,missense_variant,p.Tyr29367Asn,ENST00000342992,NM_133378.4,NM_001256850.1;TTN,missense_variant,p.Tyr23062Asn,ENST00000342175,NM_133437.3;TTN,missense_variant,p.Tyr22995Asn,ENST00000359218,NM_133432.3;TTN,missense_variant,p.Tyr22870Asn,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,;							MODERATE	90880/103053	Y30294N	TITIN_HUMAN			Transcript			.	ENSP00000465570					1	
SRRM2	0	LGGM	GRCh37	16	2817515	2817515	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	94	26	.	.	ENST00000301740.8:c.6986C>T	p.Thr2329Ile	p.T2329I	ENST00000301740	NM_016333.3	2329	aCa/aTa	0	1	1	UPI000049DDFC	0	NA	ENST00000301740		ENSG00000167978	16639		120	0.805		HGNC	p.T2329I		SRRM2		SNV							ENST00000301740	protein_coding	getma.org/?cm=var&var=hg19,16,2817515,C,T&fts=all		hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093		T/I		T	low	7535/9353		getma.org/?cm=msa&ty=f&p=SRRM2_HUMAN&rb=2061&re=2751&var=T2329I		I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN			YES	SRRM2,missense_variant,p.Thr2329Ile,ENST00000301740,NM_016333.3;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;TCEB2,downstream_gene_variant,,ENST00000409477,;TCEB2,downstream_gene_variant,,ENST00000409906,NM_007108.3;TCEB2,downstream_gene_variant,,ENST00000262306,NM_207013.2;TCEB2,downstream_gene_variant,,ENST00000494946,;SRRM2,upstream_gene_variant,,ENST00000570539,;TCEB2,downstream_gene_variant,,ENST00000572954,;AC092117.2,upstream_gene_variant,,ENST00000581119,;SRRM2,non_coding_transcript_exon_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,upstream_gene_variant,,ENST00000574866,;SRRM2,downstream_gene_variant,,ENST00000576674,;SRRM2,upstream_gene_variant,,ENST00000573583,;SRRM2,upstream_gene_variant,,ENST00000574331,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000570705,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,upstream_gene_variant,,ENST00000573692,;							MODERATE	6986/8259	T2329I	SRRM2_HUMAN			Transcript		probably_damaging(0.978)	.	ENSP00000301740		CCDS32373.1			1	
STRC	0	LGGM	GRCh37	15	43900162	43900162	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	116	26	.	.	ENST00000450892.2:c.3693C>T	p.Ile1231=	p.I1231=	ENST00000450892	NM_153700.2	1231	atC/atT	0	1	1	UPI000013E60F	0		ENST00000450892		ENSG00000242866	16035		142			HGNC	p.I1231I		STRC		SNV			1				ENST00000450892	protein_coding			hmmpanther:PTHR23412:SF16,hmmpanther:PTHR23412		I		A		3771/5680				E7EPM8_HUMAN			YES	STRC,synonymous_variant,p.=,ENST00000450892,NM_153700.2;STRC,synonymous_variant,p.=,ENST00000541030,;CKMT1B,downstream_gene_variant,,ENST00000411560,;STRC,3_prime_UTR_variant,,ENST00000428650,;STRC,3_prime_UTR_variant,,ENST00000440125,;STRC,3_prime_UTR_variant,,ENST00000455136,;STRC,non_coding_transcript_exon_variant,,ENST00000485556,;STRC,non_coding_transcript_exon_variant,,ENST00000471703,;STRC,non_coding_transcript_exon_variant,,ENST00000448437,;STRC,downstream_gene_variant,,ENST00000483250,;STRC,downstream_gene_variant,,ENST00000470279,;STRC,upstream_gene_variant,,ENST00000493750,;							LOW	3693/5328		STRC_HUMAN			Transcript			.	ENSP00000401513		CCDS10098.1			1	
ZNF708	0	LGGM	GRCh37	19	21477007	21477007	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	66	26	.	.	ENST00000356929.3:c.761G>A	p.Cys254Tyr	p.C254Y	ENST00000356929	NM_021269.2	254	tGt/tAt	0	1	1	UPI000041F9DE	0	getma.org/pdb.php?prot=ZN708_HUMAN&from=238&to=263&var=C254Y	ENST00000356929		ENSG00000182141	12945		92	3.69		HGNC	p.C254Y		ZNF708		SNV							ENST00000356929	protein_coding	getma.org/?cm=var&var=hg19,19,21477007,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF113,hmmpanther:PTHR24384,PROSITE_patterns:PS00028,Pfam_domain:PF13465,Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		C/Y		T	high	959/4004		getma.org/?cm=msa&ty=f&p=ZN708_HUMAN&rb=218&re=283&var=C254Y	deleterious(0.03)	M0R1G3_HUMAN,M0QYN4_HUMAN			YES	ZNF708,missense_variant,p.Cys254Tyr,ENST00000356929,NM_021269.2;ZNF708,downstream_gene_variant,,ENST00000602023,;ZNF708,downstream_gene_variant,,ENST00000601295,;ZNF708,3_prime_UTR_variant,,ENST00000598046,;VN1R83P,upstream_gene_variant,,ENST00000595685,;							MODERATE	761/1692	C254Y	ZN708_HUMAN			Transcript		possibly_damaging(0.861)	.	ENSP00000349401		CCDS32980.1			1	
EDEM2	0	LGGM	GRCh37	20	33703404	33703404	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	69	26	.	.	ENST00000374492.3:c.1569G>A	p.Gly523=	p.G523=	ENST00000374492	NM_018217.2	523	ggG/ggA	0	1	1	UPI00001285D9	0		ENST00000374492		ENSG00000088298	15877		95			HGNC	p.G486G		EDEM2		SNV							ENST00000374491	protein_coding			hmmpanther:PTHR11742,hmmpanther:PTHR11742:SF26		G		T		1675/1912				B4E1F4_HUMAN			YES	EDEM2,synonymous_variant,p.=,ENST00000374492,NM_018217.2;EDEM2,synonymous_variant,p.=,ENST00000541621,;EDEM2,synonymous_variant,p.=,ENST00000374491,NM_001145025.1;EDEM2,synonymous_variant,p.=,ENST00000542871,;EDEM2,downstream_gene_variant,,ENST00000540582,;SNORD56,downstream_gene_variant,,ENST00000364281,;							LOW	1569/1737		EDEM2_HUMAN			Transcript			.	ENSP00000363616		CCDS13247.1			1	
GOLGA4	0	LGGM	GRCh37	3	37368258	37368258	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	75	26	.	.	ENST00000356847.4:c.4947T>C	p.Asp1649=	p.D1649=	ENST00000356847	NM_001172713.1	1649	gaT/gaC	0	1		UPI000012B8DE	0		ENST00000361924		ENSG00000144674	4427		101			HGNC	p.D1649D	rs779024345	GOLGA4		SNV							ENST00000356847	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR19327		D		C		5255/7772	1.52E-05			A8K3D5_HUMAN				GOLGA4,synonymous_variant,p.=,ENST00000361924,NM_002078.4;GOLGA4,synonymous_variant,p.=,ENST00000356847,NM_001172713.1;GOLGA4,synonymous_variant,p.=,ENST00000437131,;GOLGA4,intron_variant,,ENST00000444882,;GOLGA4,downstream_gene_variant,,ENST00000429018,;GOLGA4,upstream_gene_variant,,ENST00000498250,;GOLGA4,downstream_gene_variant,,ENST00000497537,;							LOW	4881/6693		GOGA4_HUMAN			Transcript			.	ENSP00000354486	8.24E-06	CCDS2666.1			1	
RASAL2	0	LGGM	GRCh37	1	178359306	178359306	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	125	26	.	.	ENST00000367649.3:c.529A>T	p.Met177Leu	p.M177L	ENST00000367649		177	Atg/Ttg	0	1		UPI000012FFF1	0	NA	ENST00000462775		ENSG00000075391	9874		151	1.445		HGNC	p.M159L		RASAL2		SNV							ENST00000448150	protein_coding	getma.org/?cm=var&var=hg19,1,178359306,A,T&fts=all		hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF52		M/L		T	low	210/9156		getma.org/?cm=msa&ty=f&p=NGAP_HUMAN&rb=1&re=170&var=M29L	deleterious(0.05)					RASAL2,missense_variant,p.Met159Leu,ENST00000448150,NM_170692.2;RASAL2,missense_variant,p.Met29Leu,ENST00000462775,NM_004841.3;RASAL2,missense_variant,p.Met177Leu,ENST00000367649,;							MODERATE	85/3420	M29L	NGAP_HUMAN			Transcript		benign(0.003)	.	ENSP00000420558		CCDS1322.1			1	
BAZ2A	0	LGGM	GRCh37	12	56999698	56999698	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	67	26	.	.	ENST00000551812.1:c.2415G>A	p.Arg805=	p.R805=	ENST00000551812	NM_013449.3	805	agG/agA	0	1	1	UPI0000D4FED1	0		ENST00000551812		ENSG00000076108	962		93			HGNC	p.R805R		BAZ2A		SNV							ENST00000551812	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF141		R		T		2609/8600				F8W053_HUMAN,F8VWQ3_HUMAN,F8VU39_HUMAN			YES	BAZ2A,synonymous_variant,p.=,ENST00000179765,;BAZ2A,synonymous_variant,p.=,ENST00000379441,;BAZ2A,synonymous_variant,p.=,ENST00000551812,NM_013449.3;BAZ2A,synonymous_variant,p.=,ENST00000549884,;BAZ2A,upstream_gene_variant,,ENST00000549787,;BAZ2A,downstream_gene_variant,,ENST00000551996,;BAZ2A,downstream_gene_variant,,ENST00000547650,;BAZ2A,upstream_gene_variant,,ENST00000547453,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000549763,;BAZ2A,upstream_gene_variant,,ENST00000553222,;BAZ2A,non_coding_transcript_exon_variant,,ENST00000548578,;BAZ2A,upstream_gene_variant,,ENST00000551759,;							LOW	2415/5718		BAZ2A_HUMAN			Transcript			.	ENSP00000446880		CCDS44924.1			1	
ACTR1A	0	LGGM	GRCh37	10	104245459	104245459	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	41	26	.	.	ENST00000369905.4:c.347A>C	p.Asn116Thr	p.N116T	ENST00000369905	NM_005736.3	116	aAc/aCc	0	1	1	UPI0000000973	0	getma.org/pdb.php?prot=ACTZ_HUMAN&from=7&to=376&var=N116T	ENST00000369905		ENSG00000138107	167		67	2.965		HGNC	p.N42T		ACTR1A		SNV							ENST00000545684	protein_coding	getma.org/?cm=var&var=hg19,10,104245459,T,G&fts=all		Gene3D:3.30.420.40,Pfam_domain:PF00022,PROSITE_patterns:PS01132,hmmpanther:PTHR11937,hmmpanther:PTHR11937:SF166,SMART_domains:SM00268,Superfamily_domains:SSF53067		N/T		G	medium	411/2829		getma.org/?cm=msa&ty=f&p=ACTZ_HUMAN&rb=7&re=376&var=N116T	deleterious(0)	F5H3I4_HUMAN,B4DXP9_HUMAN			YES	ACTR1A,missense_variant,p.Asn116Thr,ENST00000369905,NM_005736.3;ACTR1A,missense_variant,p.Asn116Thr,ENST00000487599,;ACTR1A,missense_variant,p.Asn42Thr,ENST00000545684,;ACTR1A,missense_variant,p.Asn69Thr,ENST00000446605,;RP11-18I14.11,downstream_gene_variant,,ENST00000608017,;ACTR1A,non_coding_transcript_exon_variant,,ENST00000481044,;ACTR1A,non_coding_transcript_exon_variant,,ENST00000480947,;ACTR1A,upstream_gene_variant,,ENST00000470322,;ACTR1A,upstream_gene_variant,,ENST00000494549,;							MODERATE	347/1131	N116T	ACTZ_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358921		CCDS7536.1			1	
OR1M1	0	LGGM	GRCh37	19	9204704	9204704	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	26	.	.	ENST00000429566.3:c.784C>T	p.Pro262Ser	p.P262S	ENST00000429566	NM_001004456.1	262	Ccc/Tcc	0	1	1	UPI0000041C29	0	NA	ENST00000429566		ENSG00000170929	8220		88	2.47		HGNC	p.P262S		OR1M1		SNV							ENST00000429566	protein_coding	getma.org/?cm=var&var=hg19,19,9204704,C,T&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF295,Superfamily_domains:SSF81321		P/S		T	medium	850/1035		getma.org/?cm=msa&ty=f&p=OR1M1_HUMAN&rb=139&re=283&var=P262S	tolerated(0.21)				YES	OR1M1,missense_variant,p.Pro262Ser,ENST00000429566,NM_001004456.1;							MODERATE	784/942	P262S	OR1M1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000401966		CCDS32896.1			1	
NME9	0	LGGM	GRCh37	3	138034468	138034468	+	intron_variant	Intron	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	82	26	.	.	ENST00000383180.2:c.202-1219T>C		*68*	ENST00000383180	NM_178130.2			0	1		UPI0000050338	0		ENST00000333911		ENSG00000181322	21343		108			HGNC	p.A95A	rs746201294	NME9		SNV							ENST00000475751	protein_coding			hmmpanther:PTHR11349:SF48,hmmpanther:PTHR11349,Pfam_domain:PF00085,Gene3D:3.40.30.10,Superfamily_domains:SSF52833		A		G		313/1281	0.000195			C9JXP5_HUMAN,C9JPM2_HUMAN				NME9,synonymous_variant,p.=,ENST00000333911,;NME9,synonymous_variant,p.=,ENST00000475751,;NME9,intron_variant,,ENST00000383180,NM_178130.2;NME9,intron_variant,,ENST00000317876,;NME9,intron_variant,,ENST00000536478,;NME9,intron_variant,,ENST00000484930,;NME9,intron_variant,,ENST00000341790,;NME9,intron_variant,,ENST00000474690,;NME9,intron_variant,,ENST00000492993,;NME9,intron_variant,,ENST00000478220,;NME9,downstream_gene_variant,,ENST00000488716,;							LOW	285/993		TXND6_HUMAN			Transcript			.	ENSP00000335444	4.79E-05				1	
COL9A1	0	LGGM	GRCh37	6	71003974	71003974	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	95	27	.	.	ENST00000357250.6:c.592T>A	p.Cys198Ser	p.C198S	ENST00000357250	NM_001851.4	198	Tgc/Agc	0	1	1	UPI000020D14B	0	getma.org/pdb.php?prot=CO9A1_HUMAN&from=122&to=234&var=C198S	ENST00000357250		ENSG00000112280	2217		122	3.055		HGNC	p.C198S		COL9A1		SNV			1				ENST00000370496	protein_coding	getma.org/?cm=var&var=hg19,6,71003974,A,T&fts=all		Gene3D:2.60.120.200,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF454,SMART_domains:SM00210,Superfamily_domains:SSF49899		C/S		T	medium	751/4761		getma.org/?cm=msa&ty=f&p=CO9A1_HUMAN&rb=122&re=234&var=C198S					YES	COL9A1,missense_variant,p.Cys198Ser,ENST00000357250,NM_001851.4;COL9A1,missense_variant,p.Cys198Ser,ENST00000370496,;							MODERATE	592/2766	C198S	CO9A1_HUMAN			Transcript		benign(0.07)	.	ENSP00000349790		CCDS4971.1			1	
PGBD1	0	LGGM	GRCh37	6	28269143	28269143	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	69	27	.	.	ENST00000405948.2:c.1512C>T	p.Asn504=	p.N504=	ENST00000405948	NM_001184743.1	504	aaC/aaT	0	1		UPI000006ED63	0		ENST00000259883		ENSG00000137338	19398		96			HGNC	p.N504N	rs367832979	PGBD1	0.00115	SNV							ENST00000259883	protein_coding		T:0	Pfam_domain:PF13843,hmmpanther:PTHR23226,hmmpanther:PTHR23226:SF9		N		T		1917/3100					T:0	T:0		PGBD1,synonymous_variant,p.=,ENST00000405948,NM_001184743.1,NM_032507.3;PGBD1,synonymous_variant,p.=,ENST00000259883,;		T:0.0002					LOW	1512/2430		PGBD1_HUMAN		T:0	Transcript			common_variant	ENSP00000259883	0.000156	CCDS4648.1		T:0.001	1	
NHLRC2	0	LGGM	GRCh37	10	115661466	115661466	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	49	27	.	.	ENST00000369301.3:c.1181G>A	p.Gly394Glu	p.G394E	ENST00000369301	NM_198514.3	394	gGa/gAa	0	1	1	UPI0000071EAF	0	NA	ENST00000369301		ENSG00000196865	24731		76	3.14		HGNC	p.G394E		NHLRC2		SNV							ENST00000369301	protein_coding	getma.org/?cm=var&var=hg19,10,115661466,G,A&fts=all		hmmpanther:PTHR13833:SF13,hmmpanther:PTHR13833,Gene3D:2.120.10.30,Superfamily_domains:SSF101898		G/E		A	medium	1393/11051		getma.org/?cm=msa&ty=f&p=NHLC2_HUMAN&rb=305&re=473&var=G394E	deleterious(0)				YES	NHLRC2,missense_variant,p.Gly394Glu,ENST00000369301,NM_198514.3;							MODERATE	1181/2181	G394E	NHLC2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000358307		CCDS7585.1			1	
SLAIN2	0	LGGM	GRCh37	4	48422209	48422209	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	101	27	.	.	ENST00000264313.6:c.1428A>T	p.Lys476Asn	p.K476N	ENST00000264313	NM_020846.1	476	aaA/aaT	0	1	1	UPI0000074559	0	NA	ENST00000264313		ENSG00000109171	29282		128	2.49		HGNC	p.K476N		SLAIN2		SNV							ENST00000264313	protein_coding	getma.org/?cm=var&var=hg19,4,48422209,A,T&fts=all		Pfam_domain:PF15301,hmmpanther:PTHR22406,hmmpanther:PTHR22406:SF4		K/N		T	medium	1846/6299		getma.org/?cm=msa&ty=f&p=SLAI2_HUMAN&rb=91&re=579&var=K476N	deleterious(0.02)				YES	SLAIN2,missense_variant,p.Lys476Asn,ENST00000264313,NM_020846.1;SLAIN2,missense_variant,p.Lys309Asn,ENST00000512093,;SLAIN2,missense_variant,p.Lys85Asn,ENST00000510595,;							MODERATE	1428/1746	K476N	SLAI2_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264313		CCDS47051.1			1	
ANKRD50	0	LGGM	GRCh37	4	125599894	125599894	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	94	27	.	.	ENST00000504087.1:c.679C>T	p.Pro227Ser	p.P227S	ENST00000504087	NM_020337.2	227	Cca/Tca	0	1	1	UPI00002377E8	0	NA	ENST00000504087		ENSG00000151458	29223		121	0.55		HGNC	p.P48S		ANKRD50		SNV							ENST00000515641	protein_coding	getma.org/?cm=var&var=hg19,4,125599894,G,A&fts=all		hmmpanther:PTHR24151:SF1,hmmpanther:PTHR24151		P/S		A	neutral	1717/8794		getma.org/?cm=msa&ty=f&p=ANR50_HUMAN&rb=201&re=400&var=P227S	tolerated(0.2)	Q8TB46_HUMAN			YES	ANKRD50,missense_variant,p.Pro227Ser,ENST00000504087,NM_020337.2;ANKRD50,missense_variant,p.Pro48Ser,ENST00000515641,NM_001167882.1;							MODERATE	679/4290	P227S	ANR50_HUMAN			Transcript		benign(0.032)	.	ENSP00000425658		CCDS34060.1			1	
CR1	0	LGGM	GRCh37	1	207753623	207753623	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	173	28	.	.	ENST00000367049.4:c.4975A>T	p.Thr1659Ser	p.T1659S	ENST00000367049	NM_000651.4	1659	Acc/Tcc	0	1		UPI000046FD49	0	getma.org/pdb.php?prot=CR1_HUMAN&from=1197&to=1253&var=T1209S	ENST00000367051		ENSG00000203710	2334		201	0.565		HGNC	p.T759S		CR1		SNV			1				ENST00000534202	protein_coding	getma.org/?cm=var&var=hg19,1,207753623,A,T&fts=all		PROSITE_profiles:PS50923,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF344,Gene3D:2.10.70.10,Pfam_domain:PF00084,SMART_domains:SM00032,Superfamily_domains:SSF57535		T/S		T	neutral	3736/7469		getma.org/?cm=msa&ty=f&p=CR1_HUMAN&rb=1197&re=1253&var=T1209S	tolerated(0.58)	Q9UQR7_HUMAN,Q9HB99_HUMAN,B4DPT3_HUMAN				CR1,missense_variant,p.Thr1659Ser,ENST00000367049,NM_000651.4;CR1,missense_variant,p.Thr1209Ser,ENST00000367051,;CR1,missense_variant,p.Thr1209Ser,ENST00000367053,;CR1,missense_variant,p.Thr1209Ser,ENST00000367052,;CR1,missense_variant,p.Thr1209Ser,ENST00000400960,NM_000573.3;CR1,missense_variant,p.Thr759Ser,ENST00000534202,;CR1,intron_variant,,ENST00000529814,;RP11-78B10.2,intron_variant,,ENST00000597497,;RP11-78B10.2,intron_variant,,ENST00000596003,;							MODERATE	3625/6120	T1209S	CR1_HUMAN			Transcript		benign(0.048)	.	ENSP00000356018					1	
POPDC3	0	LGGM	GRCh37	6	105609315	105609315	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	103	28	.	.	ENST00000254765.3:c.470T>C	p.Leu157Ser	p.L157S	ENST00000254765	NM_022361.4	157	tTg/tCg	0	1	1	UPI000006FA58	0	NA	ENST00000254765		ENSG00000132429	17649		131	2.72		HGNC	p.L157S		POPDC3		SNV							ENST00000254765	protein_coding	getma.org/?cm=var&var=hg19,6,105609315,A,G&fts=all		Gene3D:2.60.120.10,Pfam_domain:PF04831,hmmpanther:PTHR12101,hmmpanther:PTHR12101:SF18,Superfamily_domains:SSF51206		L/S		G	medium	749/1345		getma.org/?cm=msa&ty=f&p=POPD3_HUMAN&rb=107&re=258&var=L157S	deleterious(0)				YES	POPDC3,missense_variant,p.Leu157Ser,ENST00000254765,NM_022361.4;POPDC3,upstream_gene_variant,,ENST00000429112,;BVES-AS1,intron_variant,,ENST00000369122,;BVES-AS1,intron_variant,,ENST00000580511,;BVES-AS1,intron_variant,,ENST00000580854,;BVES-AS1,downstream_gene_variant,,ENST00000369120,;POPDC3,intron_variant,,ENST00000474760,;POPDC3,intron_variant,,ENST00000489134,;							MODERATE	470/876	L157S	POPD3_HUMAN			Transcript		possibly_damaging(0.791)	.	ENSP00000254765		CCDS5052.1			1	
KRTAP5-2	0	LGGM	GRCh37	11	1619459	1619459	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	86	28	.	.	ENST00000412090.1:c.22A>T	p.Arg8Ter	p.R8*	ENST00000412090	NM_001004325.1	8	Aga/Tga	0	1	1	UPI0000241C20	0	NA	ENST00000412090		ENSG00000205867	23597		114	0		HGNC	p.R8X		KRTAP5-2		SNV							ENST00000412090	protein_coding	getma.org/?cm=var&var=hg19,11,1619459,T,A&fts=all		hmmpanther:PTHR23262,hmmpanther:PTHR23262:SF29,Low_complexity_(Seg):seg		R/*		A	NA	66/1116		NA					YES	KRTAP5-2,stop_gained,p.Arg8Ter,ENST00000412090,NM_001004325.1;KRTAP5-AS1,non_coding_transcript_exon_variant,,ENST00000424148,;KRTAP5-AS1,downstream_gene_variant,,ENST00000524947,;KRTAP5-AS1,downstream_gene_variant,,ENST00000532922,;KRTAP5-AS1,downstream_gene_variant,,ENST00000534077,;							HIGH	22/534	R8*	KRA52_HUMAN			Transcript			.	ENSP00000400041		CCDS31331.1			1	
ZNF695	0	LGGM	GRCh37	1	247151164	247151164	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	129	28	.	.	ENST00000339986.7:c.653G>A	p.Gly218Asp	p.G218D	ENST00000339986	NM_020394.4	218	gGc/gAc	0	1	1	UPI0000F734A8	0	getma.org/pdb.php?prot=ZN695_HUMAN&from=203&to=223&var=G218D	ENST00000339986		ENSG00000197472	30954		157	1.59		HGNC	p.G218D		ZNF695		SNV							ENST00000339986	protein_coding	getma.org/?cm=var&var=hg19,1,247151164,C,T&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,SMART_domains:SM00355,Superfamily_domains:SSF57667		G/D		T	low	801/3340		getma.org/?cm=msa&ty=f&p=ZN695_HUMAN&rb=183&re=243&var=G218D	deleterious(0.03)				YES	ZNF695,missense_variant,p.Gly218Asp,ENST00000339986,NM_020394.4;ZNF695,intron_variant,,ENST00000487338,NM_001204221.1;ZNF695,intron_variant,,ENST00000498046,;ZNF670,intron_variant,,ENST00000474541,;ZNF670,intron_variant,,ENST00000465049,;ZNF695,intron_variant,,ENST00000479214,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000491337,;							MODERATE	653/1548	G218D	ZN695_HUMAN			Transcript		possibly_damaging(0.908)	.	ENSP00000341236		CCDS44344.1			1	
ZNF729	0	LGGM	GRCh37	19	22486642	22486642	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	159	28	.	.	ENST00000601693.1:c.113A>G	p.Tyr38Cys	p.Y38C	ENST00000601693		38	tAt/tGt	0	1	1	UPI000042600C	0	getma.org/pdb.php?prot=ZN729_HUMAN&from=13&to=53&var=Y38C	ENST00000601693		ENSG00000196350	32464		187	3.805		HGNC	p.Y38C	rs763599458	ZNF729	0.000121	SNV							ENST00000357491	protein_coding	getma.org/?cm=var&var=hg19,19,22486642,A,G&fts=all		PROSITE_profiles:PS50805,hmmpanther:PTHR24375:SF102,hmmpanther:PTHR24375,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637		Y/C		G	high	231/3877		getma.org/?cm=msa&ty=f&p=ZN729_HUMAN&rb=13&re=53&var=Y38C	deleterious(0)	M0QY45_HUMAN			YES	ZNF729,missense_variant,p.Tyr38Cys,ENST00000601693,;ZNF729,missense_variant,p.Tyr38Cys,ENST00000357491,NM_001242680.1;RP11-157B13.9,upstream_gene_variant,,ENST00000604515,;							MODERATE	113/3759	Y38C				Transcript		probably_damaging(0.995)	.	ENSP00000469582	1.65E-05	CCDS59368.1			1	
NIPAL3	0	LGGM	GRCh37	1	24782631	24782631	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	104	28	.	.	ENST00000374399.4:c.641C>T	p.Ser214Phe	p.S214F	ENST00000374399	NM_020448.4	214	tCc/tTc	0	1	1	UPI000006FFD0	0	NA	ENST00000374399		ENSG00000001461	25233		132	2.605		HGNC	p.S214F		NIPAL3		SNV							ENST00000339255	protein_coding	getma.org/?cm=var&var=hg19,1,24782631,C,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF14,Pfam_domain:PF05653		S/F		T	medium	1009/1711		getma.org/?cm=msa&ty=f&p=NPAL3_HUMAN&rb=29&re=328&var=S214F	deleterious(0)				YES	NIPAL3,missense_variant,p.Ser132Phe,ENST00000003912,;NIPAL3,missense_variant,p.Ser214Phe,ENST00000374399,NM_020448.4;NIPAL3,missense_variant,p.Ser214Phe,ENST00000339255,;NIPAL3,upstream_gene_variant,,ENST00000432012,;NIPAL3,downstream_gene_variant,,ENST00000358028,;NIPAL3,downstream_gene_variant,,ENST00000428131,;							MODERATE	641/1221	S214F	NPAL3_HUMAN			Transcript		probably_damaging(0.968)	.	ENSP00000363520		CCDS30631.1			1	
EMID1	0	LGGM	GRCh37	22	29629422	29629422	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	106	28	.	.	ENST00000334018.6:c.878G>A	p.Gly293Glu	p.G293E	ENST00000334018	NM_001267895.1	293	gGa/gAa	0	1	1	UPI00001A796B	0	getma.org/pdb.php?prot=EMID1_HUMAN&from=286&to=343&var=G291E	ENST00000334018		ENSG00000186998	18036		134	4.09		HGNC	p.G293E		EMID1		SNV							ENST00000404755	protein_coding	getma.org/?cm=var&var=hg19,22,29629422,G,A&fts=all		Pfam_domain:PF01391,hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF363,Low_complexity_(Seg):seg		G/E		A	high	1066/2173		getma.org/?cm=msa&ty=f&p=EMID1_HUMAN&rb=286&re=343&var=G291E	deleterious(0)	F8WDX7_HUMAN			YES	EMID1,missense_variant,p.Gly293Glu,ENST00000334018,NM_001267895.1,NM_133455.3;EMID1,missense_variant,p.Gly293Glu,ENST00000404820,;EMID1,missense_variant,p.Gly293Glu,ENST00000404755,;EMID1,missense_variant,p.Gly156Glu,ENST00000433143,;EMID1,downstream_gene_variant,,ENST00000429226,;EMID1,downstream_gene_variant,,ENST00000430127,;EMID1,non_coding_transcript_exon_variant,,ENST00000484039,;EMID1,non_coding_transcript_exon_variant,,ENST00000473933,;EMID1,non_coding_transcript_exon_variant,,ENST00000487477,;EMID1,non_coding_transcript_exon_variant,,ENST00000488820,;EMID1,downstream_gene_variant,,ENST00000435427,;							MODERATE	878/1332	G291E	EMID1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000335481		CCDS33630.1			1	
STXBP2	0	LGGM	GRCh37	19	7705836	7705836	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	37	29	.	.	ENST00000221283.5:c.376G>A	p.Val126Met	p.V126M	ENST00000221283	NM_006949.3	126	Gtg/Atg	0	1	1	UPI000013C7B8	0	getma.org/pdb.php?prot=STXB2_HUMAN&from=28&to=580&var=V126M	ENST00000221283		ENSG00000076944	11445		66	1.59		HGNC	p.V94M		STXBP2		SNV			1				ENST00000593535	protein_coding	getma.org/?cm=var&var=hg19,19,7705836,G,A&fts=all		hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF27,Gene3D:3.40.50.2060,Pfam_domain:PF00995,PIRSF_domain:PIRSF005715,Superfamily_domains:SSF56815		V/M		A	low	407/1876		getma.org/?cm=msa&ty=f&p=STXB2_HUMAN&rb=28&re=580&var=V126M	tolerated(0.2)	R4GMY7_HUMAN,M0QZ54_HUMAN			YES	STXBP2,missense_variant,p.Val137Met,ENST00000441779,NM_001272034.1;STXBP2,missense_variant,p.Val126Met,ENST00000221283,NM_006949.3;STXBP2,missense_variant,p.Val123Met,ENST00000414284,NM_001127396.2;STXBP2,missense_variant,p.Val74Met,ENST00000595950,;STXBP2,missense_variant,p.Val94Met,ENST00000593535,;STXBP2,upstream_gene_variant,,ENST00000600702,;CTD-3214H19.6,upstream_gene_variant,,ENST00000601797,;STXBP2,missense_variant,p.Val126Met,ENST00000597068,;STXBP2,missense_variant,p.Val110Met,ENST00000599737,;CTD-3214H19.4,3_prime_UTR_variant,,ENST00000595866,;STXBP2,non_coding_transcript_exon_variant,,ENST00000599648,;CTD-3214H19.4,intron_variant,,ENST00000598664,;STXBP2,upstream_gene_variant,,ENST00000595800,;STXBP2,downstream_gene_variant,,ENST00000597467,;STXBP2,upstream_gene_variant,,ENST00000599400,;STXBP2,upstream_gene_variant,,ENST00000594221,;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,upstream_gene_variant,,ENST00000595861,;STXBP2,upstream_gene_variant,,ENST00000599558,;							MODERATE	376/1782	V126M	STXB2_HUMAN			Transcript		possibly_damaging(0.661)	.	ENSP00000221283		CCDS12181.1			1	
SUMF1	0	LGGM	GRCh37	3	4458919	4458919	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	105	29	.	.	ENST00000272902.5:c.733C>T	p.Pro245Ser	p.P245S	ENST00000272902	NM_182760.3	245	Ccc/Tcc	0	1	1	UPI0000040734	0	getma.org/pdb.php?prot=SUMF1_HUMAN&from=87&to=367&var=P245S	ENST00000272902		ENSG00000144455	20376		134	2.03		HGNC	p.P245S		SUMF1		SNV			1				ENST00000405420	protein_coding	getma.org/?cm=var&var=hg19,3,4458919,G,A&fts=all		Gene3D:1z70X00,Pfam_domain:PF03781,hmmpanther:PTHR23150,hmmpanther:PTHR23150:SF17,Superfamily_domains:SSF56436		P/S		A	medium	769/2159		getma.org/?cm=msa&ty=f&p=SUMF1_HUMAN&rb=87&re=367&var=P245S	deleterious(0.01)				YES	SUMF1,missense_variant,p.Pro245Ser,ENST00000272902,NM_182760.3;SUMF1,missense_variant,p.Pro220Ser,ENST00000383843,NM_001164674.1;SUMF1,missense_variant,p.Pro245Ser,ENST00000534863,;SUMF1,missense_variant,p.Pro245Ser,ENST00000405420,NM_001164675.1;SUMF1,intron_variant,,ENST00000458465,;SUMF1,missense_variant,p.Pro245Ser,ENST00000448413,;MRPS10P2,upstream_gene_variant,,ENST00000431226,;							MODERATE	733/1125	P245S	SUMF1_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000272902		CCDS2564.1			1	
ZNF695	0	LGGM	GRCh37	1	247151298	247151298	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	131	29	.	.	ENST00000339986.7:c.519A>T	p.Lys173Asn	p.K173N	ENST00000339986	NM_020394.4	173	aaA/aaT	0	1	1	UPI0000F734A8	0	NA	ENST00000339986		ENSG00000197472	30954		160	0.77		HGNC	p.K173N		ZNF695		SNV							ENST00000339986	protein_coding	getma.org/?cm=var&var=hg19,1,247151298,T,A&fts=all		Gene3D:3.30.160.60,PROSITE_profiles:PS50157,hmmpanther:PTHR24384,hmmpanther:PTHR24384:SF119,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/N		A	neutral	667/3340		getma.org/?cm=msa&ty=f&p=ZN695_HUMAN&rb=45&re=173&var=K173N	deleterious(0.05)				YES	ZNF695,missense_variant,p.Lys173Asn,ENST00000339986,NM_020394.4;ZNF695,intron_variant,,ENST00000487338,NM_001204221.1;ZNF695,intron_variant,,ENST00000498046,;ZNF670,intron_variant,,ENST00000474541,;ZNF670,intron_variant,,ENST00000465049,;ZNF695,intron_variant,,ENST00000479214,;ZNF695,intron_variant,,ENST00000366504,;ZNF695,intron_variant,,ENST00000491337,;							MODERATE	519/1548	K173N	ZN695_HUMAN			Transcript		benign(0.032)	.	ENSP00000341236		CCDS44344.1			1	
SI	0	LGGM	GRCh37	3	164777689	164777689	+	splice_donor_variant	Splice_Site	SNP	C	C	G	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	141	30	.	.	ENST00000264382.3:c.1146+1G>C		p.X382_splice	ENST00000264382	NM_001041.3			0	1	1	UPI000022C287	0		ENST00000264382		ENSG00000090402	10856		171			HGNC	-		SI		SNV			1				ENST00000264382	protein_coding							G		-/6011							YES	SI,splice_donor_variant,,ENST00000264382,NM_001041.3;							HIGH	1146/5484		SUIS_HUMAN			Transcript			.	ENSP00000264382		CCDS3196.1			1	
PCNXL4	0	LGGM	GRCh37	14	60582657	60582657	+	splice_acceptor_variant	Splice_Site	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	51	30	.	.	ENST00000317623.4:c.757-2A>T		p.X253_splice	ENST00000317623	NM_022495.5			0	1		UPI000161137B	0		ENST00000406854		ENSG00000126773	20349		81			HGNC	-		PCNXL4		SNV							ENST00000317623	protein_coding							T		-/4666				H9KV87_HUMAN,B6ZDM2_HUMAN				PCNXL4,splice_acceptor_variant,,ENST00000406854,;PCNXL4,splice_acceptor_variant,,ENST00000404681,;PCNXL4,splice_acceptor_variant,,ENST00000317623,NM_022495.5;PCNXL4,splice_acceptor_variant,,ENST00000406949,;PCNXL4,downstream_gene_variant,,ENST00000391611,;PCNXL4,upstream_gene_variant,,ENST00000535349,;PCNXL4,upstream_gene_variant,,ENST00000554534,;PCNXL4,downstream_gene_variant,,ENST00000556907,;PCNXL4,splice_acceptor_variant,,ENST00000483571,;PCNXL4,splice_acceptor_variant,,ENST00000553513,;PCNXL4,upstream_gene_variant,,ENST00000555740,;PCNXL4,upstream_gene_variant,,ENST00000555929,;PCNXL4,downstream_gene_variant,,ENST00000555569,;							HIGH	1459/3519		PCX4_HUMAN			Transcript			.	ENSP00000384801					1	
SMC5	0	LGGM	GRCh37	9	72912937	72912937	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	73	30	.	.	ENST00000361138.5:c.1109A>T	p.Gln370Leu	p.Q370L	ENST00000361138	NM_015110.3	370	cAg/cTg	0	1	1	UPI000036763A	0	NA	ENST00000361138		ENSG00000198887	20465		103	1.05		HGNC	p.Q370L		SMC5		SNV							ENST00000361138	protein_coding	getma.org/?cm=var&var=hg19,9,72912937,A,T&fts=all		Pfam_domain:PF02463,hmmpanther:PTHR19306,hmmpanther:PTHR19306:SF1		Q/L		T	low	1167/5921		getma.org/?cm=msa&ty=f&p=SMC5_HUMAN&rb=52&re=1071&var=Q370L	tolerated(0.18)				YES	SMC5,missense_variant,p.Gln370Leu,ENST00000361138,NM_015110.3;							MODERATE	1109/3306	Q370L	SMC5_HUMAN			Transcript		benign(0.104)	.	ENSP00000354957		CCDS6632.1			1	
RASAL1	0	LGGM	GRCh37	12	113552691	113552691	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	98	30	.	.	ENST00000546530.1:c.1095G>A	p.Glu365=	p.E365=	ENST00000546530	NM_004658.2	365	gaG/gaA	0	1		UPI00001FBBA8	0		ENST00000261729		ENSG00000111344	9873		128			HGNC	p.E365E		RASAL1		SNV							ENST00000446861	protein_coding			PROSITE_profiles:PS50018,hmmpanther:PTHR10194,hmmpanther:PTHR10194:SF3,Gene3D:1.10.506.10,Pfam_domain:PF00616,SMART_domains:SM00323,Superfamily_domains:SSF48350		E		T		1411/3382								RASAL1,synonymous_variant,p.=,ENST00000546530,NM_004658.2,NM_001193520.1;RASAL1,synonymous_variant,p.=,ENST00000261729,;RASAL1,synonymous_variant,p.=,ENST00000446861,NM_001193521.1;RASAL1,synonymous_variant,p.=,ENST00000548055,;RASAL1,non_coding_transcript_exon_variant,,ENST00000418411,;RASAL1,non_coding_transcript_exon_variant,,ENST00000548972,;RASAL1,downstream_gene_variant,,ENST00000547810,;RASAL1,non_coding_transcript_exon_variant,,ENST00000551051,;RASAL1,non_coding_transcript_exon_variant,,ENST00000546727,;							LOW	1095/2415		RASL1_HUMAN			Transcript			.	ENSP00000261729		CCDS9165.1			1	
PTGR3	0	LGGM	GRCh37	18	72914146	72914146	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	93	30	.	.	ENST00000322342.3:c.359C>T	p.Ala120Val	p.A120V	ENST00000322342	NM_175907.4	120	gCt/gTt	0	1	1	UPI00000350AF	0	getma.org/pdb.php?prot=ZADH2_HUMAN&from=62&to=126&var=A120V	ENST00000322342		ENSG00000180011	28697		123	2.035		HGNC	p.A120V		ZADH2		SNV							ENST00000322342	protein_coding	getma.org/?cm=var&var=hg19,18,72914146,G,A&fts=all		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF264,SMART_domains:SM00829,Superfamily_domains:SSF50129		A/V		A	medium	649/7732		getma.org/?cm=msa&ty=f&p=ZADH2_HUMAN&rb=62&re=126&var=A120V	tolerated(0.14)	J3QQQ7_HUMAN,J3KTQ8_HUMAN,B4DZ91_HUMAN			YES	ZADH2,missense_variant,p.Ala120Val,ENST00000322342,NM_175907.4;ZADH2,5_prime_UTR_variant,,ENST00000537114,;ZADH2,5_prime_UTR_variant,,ENST00000582437,;ZADH2,5_prime_UTR_variant,,ENST00000581620,;							MODERATE	359/1134	A120V	ZADH2_HUMAN			Transcript		benign(0.087)	.	ENSP00000323678		CCDS12008.1			1	
MAML2	0	LGGM	GRCh37	11	95712733	95712733	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	97	30	.	.	ENST00000524717.1:c.2850G>A	p.Gln950=	p.Q950=	ENST00000524717	NM_032427.1	950	caG/caA	0	1	1	UPI00001B4EFC	0		ENST00000524717		ENSG00000184384	16259		127			HGNC	p.Q950Q		MAML2		SNV							ENST00000524717	protein_coding			hmmpanther:PTHR15692,hmmpanther:PTHR15692:SF9		Q		T		4135/7106							YES	MAML2,synonymous_variant,p.=,ENST00000524717,NM_032427.1;							LOW	2850/3471		MAML2_HUMAN			Transcript			.	ENSP00000434552		CCDS44714.1			1	
KIF15	0	LGGM	GRCh37	3	44847413	44847413	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	99	30	.	.	ENST00000326047.4:c.1906G>A	p.Ala636Thr	p.A636T	ENST00000326047	NM_020242.2	636	Gca/Aca	0	1	1	UPI000006DB0E	0	NA	ENST00000326047		ENSG00000163808	17273		129	2.24		HGNC	p.A408T		KIF15		SNV							ENST00000481166	protein_coding	getma.org/?cm=var&var=hg19,3,44847413,G,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR24115:SF87,hmmpanther:PTHR24115		A/T		A	medium	2055/4842		getma.org/?cm=msa&ty=f&p=KIF15_HUMAN&rb=571&re=829&var=A636T	deleterious(0)	D6RCT7_HUMAN			YES	KIF15,missense_variant,p.Ala636Thr,ENST00000326047,NM_020242.2;KIF15,missense_variant,p.Ala271Thr,ENST00000425755,;KIF15,missense_variant,p.Ala408Thr,ENST00000481166,;KIF15,3_prime_UTR_variant,,ENST00000438321,;KIF15,non_coding_transcript_exon_variant,,ENST00000493134,;							MODERATE	1906/4167	A636T	KIF15_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000324020		CCDS33744.1			1	
KLHL12	0	LGGM	GRCh37	1	202863740	202863740	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	116	30	.	.	ENST00000367261.3:c.1273A>T	p.Ser425Cys	p.S425C	ENST00000367261	NM_021633.2	425	Agt/Tgt	0	1	1	UPI000006EE6A	0	getma.org/pdb.php?prot=KLH12_HUMAN&from=415&to=460&var=S425C	ENST00000367261		ENSG00000117153	19360		146	0.445		HGNC	p.S463C		KLHL12		SNV							ENST00000435533	protein_coding	getma.org/?cm=var&var=hg19,1,202863740,T,A&fts=all		Superfamily_domains:0052715,Gene3D:1k3iA02,Pfam_domain:PF01344,PIRSF_domain:PIRSF037037,hmmpanther:PTHR24412,SMART_domains:SM00612		S/C		A	neutral	1492/3359		getma.org/?cm=msa&ty=f&p=KLH12_HUMAN&rb=415&re=460&var=S425C	deleterious(0.02)				YES	KLHL12,missense_variant,p.Ser425Cys,ENST00000367261,NM_021633.2;KLHL12,missense_variant,p.Ser158Cys,ENST00000367259,;KLHL12,missense_variant,p.Ser463Cys,ENST00000435533,;							MODERATE	1273/1707	S425C	KLH12_HUMAN			Transcript		benign(0.374)	.	ENSP00000356230		CCDS1429.1			1	
POLR2C	0	LGGM	GRCh37	16	57500105	57500105	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	83	30	.	.	ENST00000219252.5:c.224G>A	p.Ser75Asn	p.S75N	ENST00000219252	NM_032940.2	75	aGt/aAt	0	1	1	UPI00000012C1	0	getma.org/pdb.php?prot=RPB3_HUMAN&from=50&to=177&var=S75N	ENST00000219252		ENSG00000102978	9189		113	3.135		HGNC	p.S75N		POLR2C		SNV							ENST00000219252	protein_coding	getma.org/?cm=var&var=hg19,16,57500105,G,A&fts=all		Gene3D:2.170.120.12,Pfam_domain:PF01000,Pfam_domain:PF01193,hmmpanther:PTHR11800,SMART_domains:SM00662,Superfamily_domains:SSF56553		S/N		A	medium	562/2057		getma.org/?cm=msa&ty=f&p=RPB3_HUMAN&rb=50&re=177&var=S75N	deleterious(0)	Q6FGR6_HUMAN			YES	POLR2C,missense_variant,p.Ser75Asn,ENST00000219252,NM_032940.2;COQ9,downstream_gene_variant,,ENST00000262507,NM_020312.3;COQ9,downstream_gene_variant,,ENST00000567072,;COQ9,downstream_gene_variant,,ENST00000563166,;POLR2C,non_coding_transcript_exon_variant,,ENST00000564651,;AC009052.12,downstream_gene_variant,,ENST00000567090,;POLR2C,3_prime_UTR_variant,,ENST00000562599,;POLR2C,non_coding_transcript_exon_variant,,ENST00000567982,;POLR2C,non_coding_transcript_exon_variant,,ENST00000563115,;POLR2C,non_coding_transcript_exon_variant,,ENST00000562953,;POLR2C,non_coding_transcript_exon_variant,,ENST00000563589,;COQ9,downstream_gene_variant,,ENST00000569980,;POLR2C,downstream_gene_variant,,ENST00000564626,;							MODERATE	224/828	S75N	RPB3_HUMAN			Transcript		possibly_damaging(0.654)	.	ENSP00000219252		CCDS10782.1			1	
PIKFYVE	0	LGGM	GRCh37	2	209200096	209200096	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	118	30	.	.	ENST00000264380.4:c.4209C>T	p.Ala1403=	p.A1403=	ENST00000264380	NM_015040.3	1403	gcC/gcT	0	1	1	UPI0000366FD6	0		ENST00000264380		ENSG00000115020	23785		148			HGNC	p.A1347A		PIKFYVE		SNV			1				ENST00000452564	protein_coding			hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353		A		T		4367/9901							YES	PIKFYVE,synonymous_variant,p.=,ENST00000264380,NM_015040.3;PIKFYVE,synonymous_variant,p.=,ENST00000452564,;PIKFYVE,non_coding_transcript_exon_variant,,ENST00000474721,;							LOW	4209/6297		FYV1_HUMAN			Transcript			.	ENSP00000264380		CCDS2382.1			1	
NRBP1	0	LGGM	GRCh37	2	27662655	27662655	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	102	30	.	.	ENST00000233557.3:c.926A>G	p.Gln309Arg	p.Q309R	ENST00000233557		309	cAg/cGg	0	1	1	UPI0000035B7E	0	getma.org/pdb.php?prot=NRBP_HUMAN&from=80&to=327&var=Q309R	ENST00000233557		ENSG00000115216	7993		132	0.465		HGNC	p.Q309R		NRBP1		SNV							ENST00000379852	protein_coding	getma.org/?cm=var&var=hg19,2,27662655,A,G&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR13902,hmmpanther:PTHR13902:SF48,Pfam_domain:PF00069,Gene3D:1.10.510.10,Superfamily_domains:SSF56112		Q/R		G	neutral	1758/2887		getma.org/?cm=msa&ty=f&p=NRBP_HUMAN&rb=80&re=327&var=Q309R	tolerated(0.54)	C9JHZ6_HUMAN,C9JDW7_HUMAN			YES	NRBP1,missense_variant,p.Gln309Arg,ENST00000233557,;NRBP1,missense_variant,p.Gln317Arg,ENST00000379863,;NRBP1,missense_variant,p.Gln309Arg,ENST00000379852,NM_013392.2;IFT172,downstream_gene_variant,,ENST00000260570,NM_015662.1;KRTCAP3,upstream_gene_variant,,ENST00000543753,NM_001168364.1;KRTCAP3,upstream_gene_variant,,ENST00000407293,;KRTCAP3,upstream_gene_variant,,ENST00000288873,NM_173853.3;KRTCAP3,upstream_gene_variant,,ENST00000452499,;NRBP1,non_coding_transcript_exon_variant,,ENST00000460499,;IFT172,downstream_gene_variant,,ENST00000507184,;IFT172,downstream_gene_variant,,ENST00000509128,;NRBP1,upstream_gene_variant,,ENST00000486701,;KRTCAP3,upstream_gene_variant,,ENST00000464699,;KRTCAP3,upstream_gene_variant,,ENST00000453171,;NRBP1,downstream_gene_variant,,ENST00000493768,;NRBP1,downstream_gene_variant,,ENST00000493746,;KRTCAP3,upstream_gene_variant,,ENST00000494572,;							MODERATE	926/1608	Q309R	NRBP_HUMAN			Transcript		benign(0.079)	.	ENSP00000233557		CCDS1753.1			1	
NDUFS3	0	LGGM	GRCh37	11	47604019	47604019	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	149	31	.	.	ENST00000263774.4:c.626A>T	p.Glu209Val	p.E209V	ENST00000263774	NM_004551.2	209	gAg/gTg	0	1	1	UPI0000130930	0	NA	ENST00000263774		ENSG00000213619	7710		180	3.755		HGNC	p.E209V		NDUFS3		SNV			1				ENST00000263774	protein_coding	getma.org/?cm=var&var=hg19,11,47604019,A,T&fts=all		HAMAP:MF_01357,hmmpanther:PTHR10884,hmmpanther:PTHR10884:SF6,Superfamily_domains:0052776		E/V		T	high	708/958		getma.org/?cm=msa&ty=f&p=NDUS3_HUMAN&rb=201&re=264&var=E209V	deleterious(0)	Q9UF24_HUMAN			YES	NDUFS3,missense_variant,p.Glu209Val,ENST00000263774,NM_004551.2;KBTBD4,upstream_gene_variant,,ENST00000533290,;KBTBD4,upstream_gene_variant,,ENST00000395288,NM_016506.5;KBTBD4,upstream_gene_variant,,ENST00000526005,;KBTBD4,upstream_gene_variant,,ENST00000430070,NM_018095.4;FAM180B,upstream_gene_variant,,ENST00000356737,;FAM180B,upstream_gene_variant,,ENST00000538490,NM_001164379.1;NDUFS3,downstream_gene_variant,,ENST00000534716,;KBTBD4,upstream_gene_variant,,ENST00000525720,;KBTBD4,upstream_gene_variant,,ENST00000529499,;KBTBD4,upstream_gene_variant,,ENST00000531067,;NDUFS3,downstream_gene_variant,,ENST00000534208,;NDUFS3,downstream_gene_variant,,ENST00000528192,;NDUFS3,downstream_gene_variant,,ENST00000529276,;KBTBD4,downstream_gene_variant,,ENST00000450908,;KBTBD4,upstream_gene_variant,,ENST00000534239,;KBTBD4,upstream_gene_variant,,ENST00000529946,;NDUFS3,downstream_gene_variant,,ENST00000530295,;NDUFS3,splice_region_variant,,ENST00000533507,;NDUFS3,splice_region_variant,,ENST00000525212,;NDUFS3,splice_region_variant,,ENST00000527178,;NDUFS3,downstream_gene_variant,,ENST00000531351,;NDUFS3,splice_region_variant,,ENST00000525378,;NDUFS3,non_coding_transcript_exon_variant,,ENST00000524568,;KBTBD4,upstream_gene_variant,,ENST00000530668,;NDUFS3,downstream_gene_variant,,ENST00000533105,;							MODERATE	626/795	E209V	NDUS3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000263774		CCDS7941.1			1	
ADAMTS3	0	LGGM	GRCh37	4	73169693	73169693	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	110	31	.	.	ENST00000286657.4:c.2365G>T	p.Glu789Ter	p.E789*	ENST00000286657	NM_014243.2	789	Gaa/Taa	0	1	1	UPI00001AEAEA	0	NA	ENST00000286657		ENSG00000156140	219		141	0		HGNC	p.E789X		ADAMTS3		SNV							ENST00000286657	protein_coding	getma.org/?cm=var&var=hg19,4,73169693,C,A&fts=all		hmmpanther:PTHR13723:SF158,hmmpanther:PTHR13723,Pfam_domain:PF05986		E/*		A	NA	2402/5822		NA		Q96AY5_HUMAN			YES	ADAMTS3,stop_gained,p.Glu789Ter,ENST00000286657,NM_014243.2;ADAMTS3,non_coding_transcript_exon_variant,,ENST00000511274,;							HIGH	2365/3618	E789*	ATS3_HUMAN			Transcript			.	ENSP00000286657		CCDS3553.1			1	
GCC2	0	LGGM	GRCh37	2	109087981	109087981	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	137	31	.	.	ENST00000309863.6:c.2196G>A	p.Gln732=	p.Q732=	ENST00000309863	NM_181453.3	732	caG/caA	0	1	1	UPI000049DF0C	0		ENST00000309863		ENSG00000135968	23218		168			HGNC	p.Q695Q		GCC2		SNV							ENST00000409896	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18902,hmmpanther:PTHR18902:SF23		Q		A		2910/7537				B8ZZW2_HUMAN,B3KR21_HUMAN			YES	GCC2,synonymous_variant,p.=,ENST00000309863,NM_181453.3;GCC2,synonymous_variant,p.=,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,;							LOW	2196/5055		GCC2_HUMAN			Transcript			.	ENSP00000307939		CCDS33268.1			1	
PPM1H	0	LGGM	GRCh37	12	63042385	63042385	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	59	31	.	.	ENST00000228705.6:c.1429C>T	p.Arg477Cys	p.R477C	ENST00000228705	NM_020700.1	477	Cgt/Tgt	0	1	1	UPI00000557DD	0	getma.org/pdb.php?prot=PPM1H_HUMAN&from=361&to=480&var=R477C	ENST00000228705		ENSG00000111110	18583	8.66E-05	90	1.155		HGNC	p.R477C	rs757417572,COSM431640	PPM1H		SNV						0,1	ENST00000228705	protein_coding	getma.org/?cm=var&var=hg19,12,63042385,G,A&fts=all		hmmpanther:PTHR13832,hmmpanther:PTHR13832:SF214,Gene3D:3.60.40.10,SMART_domains:SM00332,Superfamily_domains:SSF81606		R/C		A	low	1730/6353		getma.org/?cm=msa&ty=f&p=PPM1H_HUMAN&rb=361&re=480&var=R477C	deleterious(0.04)				YES	PPM1H,missense_variant,p.Arg477Cys,ENST00000228705,NM_020700.1;snoU13,upstream_gene_variant,,ENST00000459527,;PPM1H,non_coding_transcript_exon_variant,,ENST00000551214,;					0,1		MODERATE	1429/1545	R477C	PPM1H_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000228705	8.26E-06	CCDS44934.1			1	
RALGAPB	0	LGGM	GRCh37	20	37202882	37202882	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	31	.	.	ENST00000262879.6:c.4232G>A	p.Gly1411Glu	p.G1411E	ENST00000262879		1411	gGa/gAa	0	1	1	UPI000000DBFD	0	NA	ENST00000262879		ENSG00000170471	29221		93	1.455		HGNC	p.G1240E		RALGAPB		SNV							ENST00000438490	protein_coding	getma.org/?cm=var&var=hg19,20,37202882,G,A&fts=all		hmmpanther:PTHR21344,Superfamily_domains:0043732		G/E		A	low	4516/8661		getma.org/?cm=msa&ty=f&p=RLGPB_HUMAN&rb=1401&re=1494&var=G1411E	deleterious(0)	Q6MZJ2_HUMAN			YES	RALGAPB,missense_variant,p.Gly1411Glu,ENST00000262879,;RALGAPB,missense_variant,p.Gly1408Glu,ENST00000397042,NM_001282918.1;RALGAPB,missense_variant,p.Gly1190Glu,ENST00000397038,NM_020336.2;RALGAPB,missense_variant,p.Gly1411Glu,ENST00000397040,NM_001282917.1;RALGAPB,missense_variant,p.Gly1240Glu,ENST00000438490,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000490114,;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461147,;							MODERATE	4232/4485	G1411E	RLGPB_HUMAN			Transcript		probably_damaging(0.977)	.	ENSP00000262879		CCDS13305.1			1	
FSIP2	0	LGGM	GRCh37	2	186657920	186657920	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	79	31	.	.	ENST00000343098.5:c.6324T>C	p.Asp2108=	p.D2108=	ENST00000343098	NM_173651.2	2108	gaT/gaC	0	1		UPI000198D023	0		ENST00000424728		ENSG00000188738	21675		110			HGNC	p.D2019D		FSIP2		SNV							ENST00000424728	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR21856,hmmpanther:PTHR21856:SF1		D		C		6057/20788								FSIP2,synonymous_variant,p.=,ENST00000343098,NM_173651.2;FSIP2,synonymous_variant,p.=,ENST00000424728,;AC008174.3,intron_variant,,ENST00000436557,;AC008174.3,intron_variant,,ENST00000429929,;FSIP2,upstream_gene_variant,,ENST00000415915,;							LOW	6057/20724		FSIP2_HUMAN			Transcript			.	ENSP00000401306					1	
BAZ1A	0	LGGM	GRCh37	14	35234120	35234120	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	81	31	.	.	ENST00000360310.1:c.3569G>A	p.Trp1190Ter	p.W1190*	ENST00000360310	NM_013448.2	1190	tGg/tAg	0	1	1	UPI00001584D3	0	NA	ENST00000360310		ENSG00000198604	960		112	0		HGNC	p.W1158X		BAZ1A		SNV							ENST00000358716	protein_coding	getma.org/?cm=var&var=hg19,14,35234120,C,T&fts=all		Gene3D:3.30.40.10,Pfam_domain:PF00628,PROSITE_patterns:PS01359,PROSITE_profiles:PS50016,hmmpanther:PTHR22880,hmmpanther:PTHR22880:SF145,SMART_domains:SM00249,Superfamily_domains:SSF57903		W/*		T	NA	4137/6010		NA		D3DS96_HUMAN			YES	BAZ1A,stop_gained,p.Trp1190Ter,ENST00000360310,NM_013448.2;BAZ1A,stop_gained,p.Trp1158Ter,ENST00000358716,NM_182648.1;BAZ1A,stop_gained,p.Trp1190Ter,ENST00000382422,;BAZ1A,3_prime_UTR_variant,,ENST00000554865,;BAZ1A,upstream_gene_variant,,ENST00000555331,;BAZ1A,upstream_gene_variant,,ENST00000557739,;							HIGH	3569/4671	W1190*	BAZ1A_HUMAN			Transcript			.	ENSP00000353458		CCDS9651.1			1	
EIF5A	0	LGGM	GRCh37	17	7213030	7213030	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	48	32	.	.	ENST00000336452.7:c.166C>T	p.Arg56Cys	p.R56C	ENST00000336452	NM_001143760.1	56	Cgt/Tgt	0	1		UPI0000006BEE	0	getma.org/pdb.php?prot=IF5A1_HUMAN&from=1&to=26&var=R26C	ENST00000336458		ENSG00000132507	3300		80	4.05		HGNC	p.R26C	rs769669056,COSM364410,COSM1293693	EIF5A		SNV						0,1,1	ENST00000573714	protein_coding	getma.org/?cm=var&var=hg19,17,7213030,C,T&fts=all		Gene3D:2.30.30.30,PIRSF_domain:PIRSF003025,hmmpanther:PTHR11673,hmmpanther:PTHR11673:SF7,Superfamily_domains:SSF50104,TIGRFAM_domain:TIGR00037		R/C		T	high	477/1511	1.50E-05	getma.org/?cm=msa&ty=f&p=IF5A1_HUMAN&rb=1&re=56&var=R26C	tolerated(0.06)	I3L397_HUMAN				EIF5A,missense_variant,p.Arg26Cys,ENST00000336458,NM_001970.4;EIF5A,missense_variant,p.Arg26Cys,ENST00000576930,;EIF5A,missense_variant,p.Arg26Cys,ENST00000571955,;EIF5A,missense_variant,p.Arg26Cys,ENST00000416016,NM_001143762.1;EIF5A,missense_variant,p.Arg26Cys,ENST00000419711,NM_001143761.1;EIF5A,missense_variant,p.Arg56Cys,ENST00000336452,NM_001143760.1;EIF5A,missense_variant,p.Arg26Cys,ENST00000573542,;EIF5A,missense_variant,p.Arg26Cys,ENST00000572815,;EIF5A,missense_variant,p.Arg26Cys,ENST00000573714,;GPS2,downstream_gene_variant,,ENST00000380728,;GPS2,downstream_gene_variant,,ENST00000389167,NM_004489.4;GPS2,downstream_gene_variant,,ENST00000391950,;GPS2,downstream_gene_variant,,ENST00000570780,;GPS2,downstream_gene_variant,,ENST00000577040,;GPS2,downstream_gene_variant,,ENST00000573684,;GPS2,downstream_gene_variant,,ENST00000574458,;EIF5A,non_coding_transcript_exon_variant,,ENST00000355068,;EIF5A,non_coding_transcript_exon_variant,,ENST00000575001,;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,;GPS2,downstream_gene_variant,,ENST00000571697,;GPS2,downstream_gene_variant,,ENST00000571569,;GPS2,downstream_gene_variant,,ENST00000572172,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000571098,;GPS2,downstream_gene_variant,,ENST00000572707,;GPS2,downstream_gene_variant,,ENST00000573059,;GPS2,downstream_gene_variant,,ENST00000573807,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000574201,;					0,1,1		MODERATE	76/465	R26C	IF5A1_HUMAN			Transcript		benign(0.112)	.	ENSP00000336776	8.24E-06	CCDS11099.1			1	
NIPAL4	0	LGGM	GRCh37	5	156895762	156895762	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	91	32	.	.	ENST00000311946.7:c.553T>A	p.Tyr185Asn	p.Y185N	ENST00000311946	NM_001099287.1	185	Tac/Aac	0	1	1	UPI00001D7EEA	0	NA	ENST00000311946		ENSG00000172548	28018		123	3.715		HGNC	p.Y166N		NIPAL4		SNV			1				ENST00000435489	protein_coding	getma.org/?cm=var&var=hg19,5,156895762,T,A&fts=all		hmmpanther:PTHR12570,hmmpanther:PTHR12570:SF7,Pfam_domain:PF05653,Superfamily_domains:0043518		Y/N		A	high	669/3274		getma.org/?cm=msa&ty=f&p=NIPA4_HUMAN&rb=114&re=414&var=Y185N	deleterious(0)				YES	NIPAL4,missense_variant,p.Tyr185Asn,ENST00000311946,NM_001099287.1;NIPAL4,missense_variant,p.Tyr166Asn,ENST00000435489,NM_001172292.1;ADAM19,intron_variant,,ENST00000430702,;NIPAL4,downstream_gene_variant,,ENST00000521390,;NIPAL4,downstream_gene_variant,,ENST00000519946,;NIPAL4,3_prime_UTR_variant,,ENST00000519150,;ADAM19,intron_variant,,ENST00000517951,;							MODERATE	553/1401	Y185N	NIPA4_HUMAN			Transcript		possibly_damaging(0.888)	.	ENSP00000311687		CCDS47328.1			1	
SSX6	0	LGGM	GRCh37	X	47976491	47976491	+	downstream_gene_variant	3'Flank	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	40	32	.	.				ENST00000412590				0	1	1		0		ENST00000412590		ENSG00000171483	19652		72		2797	HGNC	p.G143E		SSX6		SNV							ENST00000376932	retained_intron							A		-/1461							YES	SSX6,non_coding_transcript_exon_variant,,ENST00000509958,;SSX6,downstream_gene_variant,,ENST00000412590,;SSX6,non_coding_transcript_exon_variant,,ENST00000319275,;SSX6,non_coding_transcript_exon_variant,,ENST00000376932,;							MODIFIER						Transcript			.						1	
ZBTB34	0	LGGM	GRCh37	9	129641907	129641907	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	153	33	.	.	ENST00000373452.2:c.217G>A	p.Val73Met	p.V73M	ENST00000373452		73	Gtg/Atg	0	1	1	UPI00004031FA	0	getma.org/pdb.php?prot=ZBT34_HUMAN&from=22&to=126&var=V73M	ENST00000373452		ENSG00000177125	31446		186	2.09		HGNC	p.V73M	rs758242929	ZBTB34		SNV							ENST00000373452	protein_coding	getma.org/?cm=var&var=hg19,9,129641907,G,A&fts=all		Superfamily_domains:SSF54695,SMART_domains:SM00225,Pfam_domain:PF00651,Gene3D:3.30.710.10,hmmpanther:PTHR24375,hmmpanther:PTHR24375:SF44,PROSITE_profiles:PS50097		V/M		A	medium	281/6528	1.50E-05	getma.org/?cm=msa&ty=f&p=ZBT34_HUMAN&rb=22&re=126&var=V73M	deleterious(0.02)				YES	ZBTB34,missense_variant,p.Val77Met,ENST00000319119,NM_001099270.1;ZBTB34,missense_variant,p.Val73Met,ENST00000373452,;							MODERATE	217/1503	V73M	ZBT34_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362551	8.27E-06	CCDS48023.1			1	
CHD2	0	LGGM	GRCh37	15	93467681	93467681	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	145	33	.	.	ENST00000394196.4:c.193G>A	p.Glu65Lys	p.E65K	ENST00000394196	NM_001271.3	65	Gaa/Aaa	0	1	1	UPI0000E8A85C	0	NA	ENST00000394196		ENSG00000173575	1917		178	0.695		HGNC	p.E65K	COSM1301593,COSM1301592	CHD2		SNV			1			1,1	ENST00000557381	protein_coding	getma.org/?cm=var&var=hg19,15,93467681,G,A&fts=all		hmmpanther:PTHR10799,hmmpanther:PTHR10799:SF538,Low_complexity_(Seg):seg		E/K		A	neutral	1261/9857		getma.org/?cm=msa&ty=f&p=CHD2_HUMAN&rb=1&re=200&var=E65K	tolerated(0.09)	Q6AI05_HUMAN,Q3YLD6_HUMAN,Q3YLD5_HUMAN,G3V4S8_HUMAN,G3V418_HUMAN			YES	CHD2,missense_variant,p.Glu65Lys,ENST00000394196,NM_001271.3;CHD2,missense_variant,p.Glu65Lys,ENST00000557381,;CHD2,missense_variant,p.Glu65Lys,ENST00000420239,NM_001042572.2;CHD2,missense_variant,p.Glu78Lys,ENST00000536619,;CHD2,missense_variant,p.Glu65Lys,ENST00000556722,;CHD2,non_coding_transcript_exon_variant,,ENST00000556930,;CHD2,non_coding_transcript_exon_variant,,ENST00000309818,;CHD2,non_coding_transcript_exon_variant,,ENST00000556270,;					1,1		MODERATE	193/5487	E65K	CHD2_HUMAN			Transcript		unknown(0)	.	ENSP00000377747		CCDS10374.2			1	
OR10H3	0	LGGM	GRCh37	19	15852419	15852419	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	93	34	.	.	ENST00000305892.1:c.217C>T	p.Leu73=	p.L73=	ENST00000305892	NM_013938.1	73	Ctg/Ttg	0	1	1	UPI0000041DB5	0		ENST00000305892		ENSG00000171936	8174		127			HGNC	p.L73L		OR10H3		SNV							ENST00000305892	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24247,hmmpanther:PTHR24247:SF86,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L		T		217/951							YES	OR10H3,synonymous_variant,p.=,ENST00000305892,NM_013938.1;							LOW	217/951		O10H3_HUMAN			Transcript			.	ENSP00000307130		CCDS12334.1			1	
DOCK1	0	LGGM	GRCh37	10	129172458	129172458	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	58	34	.	.	ENST00000280333.6:c.3592A>T	p.Ser1198Cys	p.S1198C	ENST00000280333	NM_001380.3	1198	Agc/Tgc	0	1	1	UPI0000246CA1	0	getma.org/pdb.php?prot=DOCK1_HUMAN&from=1111&to=1616&var=S1198C	ENST00000280333		ENSG00000150760	2987		92	3.015		HGNC	p.S1198C		DOCK1		SNV							ENST00000280333	protein_coding	getma.org/?cm=var&var=hg19,10,129172458,A,T&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF79,Superfamily_domains:SSF48371		S/C		T	medium	3701/6797		getma.org/?cm=msa&ty=f&p=DOCK1_HUMAN&rb=1111&re=1616&var=S1198C	deleterious(0)				YES	DOCK1,missense_variant,p.Ser1198Cys,ENST00000280333,NM_001380.3;							MODERATE	3592/5598	S1198C	DOCK1_HUMAN			Transcript		possibly_damaging(0.82)	.	ENSP00000280333					1	
FAM185A	0	LGGM	GRCh37	7	102401771	102401771	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	148	35	.	.	ENST00000413034.2:c.706G>A	p.Asp236Asn	p.D236N	ENST00000413034	NM_001145268.1	236	Gat/Aat	0	1	1	UPI0001AE70BB	0	NA	ENST00000413034		ENSG00000222011	22412		183	1.7		HGNC	p.D236N		FAM185A		SNV							ENST00000413034	protein_coding	getma.org/?cm=var&var=hg19,7,102401771,G,A&fts=all				D/N		A	low	706/1179		getma.org/?cm=msa&ty=f&p=F185A_HUMAN&rb=201&re=241&var=D236N	tolerated(0.17)	F8WFC0_HUMAN,C9JFL0_HUMAN			YES	FAM185A,missense_variant,p.Asp119Asn,ENST00000409231,NM_001145269.1;FAM185A,missense_variant,p.Asp236Asn,ENST00000413034,NM_001145268.1;FAM185A,downstream_gene_variant,,ENST00000418198,;FAM185A,non_coding_transcript_exon_variant,,ENST00000481697,;FAM185A,non_coding_transcript_exon_variant,,ENST00000487807,;FAM185A,3_prime_UTR_variant,,ENST00000442873,;FAM185A,3_prime_UTR_variant,,ENST00000420217,;							MODERATE	706/1179	D236N	F185A_HUMAN			Transcript		benign(0.13)	.	ENSP00000395340		CCDS47676.1			1	
PCDHB10	0	LGGM	GRCh37	5	140572722	140572722	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	97	35	.	.	ENST00000239446.4:c.597A>G	p.Ala199=	p.A199=	ENST00000239446	NM_018930.3	199	gcA/gcG	0	1	1	UPI0000048F2E	0		ENST00000239446		ENSG00000120324	8681		132			HGNC	p.A199A	rs781985781	PCDHB10	6.06E-05	SNV							ENST00000239446	protein_coding			Gene3D:2.60.40.60,Pfam_domain:PF00028,PROSITE_profiles:PS50268,hmmpanther:PTHR24028,hmmpanther:PTHR24028:SF54,SMART_domains:SM00112,Superfamily_domains:SSF49313		A		G		781/3274				O95883_HUMAN			YES	PCDHB10,synonymous_variant,p.=,ENST00000239446,NM_018930.3;PCDHB9,downstream_gene_variant,,ENST00000316105,;							LOW	597/2403		PCDBA_HUMAN			Transcript			.	ENSP00000239446	8.24E-06	CCDS4252.1			1	
SCN5A	0	LGGM	GRCh37	3	38627227	38627227	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	64	35	.	.	ENST00000413689.1:c.2742A>G	p.Leu914=	p.L914=	ENST00000413689	NM_001160160.1	914	ttA/ttG	0	1		UPI00001D6F27	0		ENST00000333535		ENSG00000183873	10593		99			HGNC	p.L914L		SCN5A		SNV			1				ENST00000450102	protein_coding			Pfam_domain:PF00520,hmmpanther:PTHR10037,hmmpanther:PTHR10037:SF178,Superfamily_domains:SSF81324		L		C		2892/8456				Q8WWN5_HUMAN,Q8WTQ6_HUMAN,A3EY21_HUMAN,A3EY20_HUMAN				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,;							LOW	2742/6051		SCN5A_HUMAN			Transcript			.	ENSP00000328968		CCDS46796.1			1	
NAA11	0	LGGM	GRCh37	4	80246537	80246537	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	132	37	.	.	ENST00000286794.4:c.495G>A	p.Lys165=	p.K165=	ENST00000286794	NM_032693.2	165	aaG/aaA	0	1	1	UPI00000467CA	0		ENST00000286794		ENSG00000156269	28125		169			HGNC	p.K165K		NAA11		SNV							ENST00000286794	protein_coding			hmmpanther:PTHR23091,hmmpanther:PTHR23091:SF205		K		T		668/2014				H0Y8T0_HUMAN			YES	NAA11,synonymous_variant,p.=,ENST00000286794,NM_032693.2;NAA11,non_coding_transcript_exon_variant,,ENST00000513733,;NAA11,synonymous_variant,p.=,ENST00000511542,;							LOW	495/690		NAA11_HUMAN			Transcript			.	ENSP00000286794		CCDS47084.1			1	
IMPG2	0	LGGM	GRCh37	3	100949861	100949861	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	74	37	.	.	ENST00000193391.7:c.3362A>T	p.Tyr1121Phe	p.Y1121F	ENST00000193391	NM_016247.3	1121	tAc/tTc	0	1	1	UPI000013C605	0	NA	ENST00000193391		ENSG00000081148	18362		111	-2.045		HGNC	p.Y1121F	rs754672236	IMPG2		SNV			1				ENST00000193391	protein_coding	getma.org/?cm=var&var=hg19,3,100949861,T,A&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR12199:SF4,hmmpanther:PTHR12199		Y/F		A	neutral	3550/8337		getma.org/?cm=msa&ty=f&p=IMPG2_HUMAN&rb=1103&re=1235&var=Y1121F	tolerated(1)	F1T0J3_HUMAN			YES	IMPG2,missense_variant,p.Tyr1121Phe,ENST00000193391,NM_016247.3;	0.000116						MODERATE	3362/3726	Y1121F	IMPG2_HUMAN			Transcript		benign(0)	.	ENSP00000193391	8.24E-06	CCDS2940.1			1	
GPS2	0	LGGM	GRCh37	17	7216612	7216612	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	33	38	.	.	ENST00000380728.2:c.725-2A>T		p.X242_splice	ENST00000380728				0	1	1	UPI0000000DD1	0		ENST00000380728		ENSG00000132522	4550		71			HGNC	-		GPS2		SNV							ENST00000391950	protein_coding							A		-/1379				I3L4X7_HUMAN			YES	GPS2,splice_acceptor_variant,,ENST00000380728,;GPS2,splice_acceptor_variant,,ENST00000389167,NM_004489.4;GPS2,splice_acceptor_variant,,ENST00000391950,;GPS2,splice_acceptor_variant,,ENST00000570780,;GPS2,splice_acceptor_variant,,ENST00000577040,;GPS2,splice_acceptor_variant,,ENST00000573684,;NEURL4,downstream_gene_variant,,ENST00000399464,NM_032442.2;NEURL4,downstream_gene_variant,,ENST00000315614,NM_001005408.1;NEURL4,downstream_gene_variant,,ENST00000570460,;NEURL4,downstream_gene_variant,,ENST00000571887,;EIF5A,downstream_gene_variant,,ENST00000336458,NM_001970.4;EIF5A,downstream_gene_variant,,ENST00000576930,;EIF5A,downstream_gene_variant,,ENST00000571955,;EIF5A,downstream_gene_variant,,ENST00000416016,NM_001143762.1;EIF5A,downstream_gene_variant,,ENST00000419711,NM_001143761.1;EIF5A,downstream_gene_variant,,ENST00000336452,NM_001143760.1;EIF5A,downstream_gene_variant,,ENST00000573542,;EIF5A,downstream_gene_variant,,ENST00000572815,;EIF5A,downstream_gene_variant,,ENST00000573714,;GPS2,upstream_gene_variant,,ENST00000574458,;NEURL4,downstream_gene_variant,,ENST00000574120,;RP11-542C16.2,splice_acceptor_variant,,ENST00000575474,;RP11-542C16.2,splice_acceptor_variant,,ENST00000315601,;GPS2,splice_acceptor_variant,,ENST00000571697,;GPS2,splice_acceptor_variant,,ENST00000571569,;GPS2,splice_acceptor_variant,,ENST00000572172,;GPS2,non_coding_transcript_exon_variant,,ENST00000573807,;NEURL4,downstream_gene_variant,,ENST00000573186,;GPS2,downstream_gene_variant,,ENST00000572363,;GPS2,downstream_gene_variant,,ENST00000571098,;EIF5A,downstream_gene_variant,,ENST00000355068,;GPS2,downstream_gene_variant,,ENST00000572707,;NEURL4,downstream_gene_variant,,ENST00000576794,;GPS2,downstream_gene_variant,,ENST00000573059,;NEURL4,downstream_gene_variant,,ENST00000572680,;NEURL4,downstream_gene_variant,,ENST00000572029,;EIF5A,downstream_gene_variant,,ENST00000575001,;GPS2,downstream_gene_variant,,ENST00000571695,;GPS2,downstream_gene_variant,,ENST00000574201,;							HIGH	725/984		GPS2_HUMAN			Transcript			.	ENSP00000370104		CCDS11100.1			1	
GAB1	0	LGGM	GRCh37	4	144380582	144380582	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	156	38	.	.	ENST00000262995.4:c.1720G>A	p.Glu574Lys	p.E574K	ENST00000262995	NM_207123.2	574	Gaa/Aaa	0	1		UPI000013D37B	0	NA	ENST00000262994		ENSG00000109458	4066		194	2.725		HGNC	p.E574K		GAB1		SNV							ENST00000262995	protein_coding	getma.org/?cm=var&var=hg19,4,144380582,G,A&fts=all		hmmpanther:PTHR12156,hmmpanther:PTHR12156:SF18		E/K		A	medium	1932/2648		getma.org/?cm=msa&ty=f&p=GAB1_HUMAN&rb=129&re=692&var=E544K	deleterious(0)	D6RF42_HUMAN,B7Z3B9_HUMAN				GAB1,missense_variant,p.Glu574Lys,ENST00000262995,NM_207123.2;GAB1,missense_variant,p.Glu544Lys,ENST00000262994,NM_002039.3;GAB1,missense_variant,p.Glu441Lys,ENST00000505913,;GAB1,intron_variant,,ENST00000512843,;GAB1,non_coding_transcript_exon_variant,,ENST00000508833,;GAB1,non_coding_transcript_exon_variant,,ENST00000507070,;GAB1,non_coding_transcript_exon_variant,,ENST00000510615,;							MODERATE	1630/2085	E544K	GAB1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000262994		CCDS3759.1			1	
PCLO	0	LGGM	GRCh37	7	82784210	82784210	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	196	38	.	.	ENST00000333891.9:c.1747G>A	p.Gly583Ser	p.G583S	ENST00000333891	NM_033026.5	583	Ggc/Agc	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		234	0.46		HGNC	p.G583S		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82784210,C,T&fts=all		Gene3D:3.30.40.10,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Superfamily_domains:SSF57903		G/S		T	neutral	2085/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=490&re=530&var=G529S					YES	PCLO,missense_variant,p.Gly583Ser,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Gly583Ser,ENST00000423517,NM_014510.2;							MODERATE	1747/15429	G529S	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
ARL1	0	LGGM	GRCh37	12	101790261	101790261	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	124	38	.	.	ENST00000261636.8:c.431G>A	p.Gly144Glu	p.G144E	ENST00000261636	NM_001177.4	144	gGg/gAg	0	1	1	UPI0000125EE1	0	getma.org/pdb.php?prot=ARL1_HUMAN&from=5&to=177&var=G144E	ENST00000261636		ENSG00000120805	692		162	1.98		HGNC	p.G15E		ARL1		SNV							ENST00000551688	protein_coding	getma.org/?cm=var&var=hg19,12,101790261,C,T&fts=all		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		G/E		T	medium	606/3241		getma.org/?cm=msa&ty=f&p=ARL1_HUMAN&rb=5&re=177&var=G144E	tolerated(0.05)	F8W1Z8_HUMAN,B4DWW1_HUMAN			YES	ARL1,missense_variant,p.Gly144Glu,ENST00000261636,NM_001177.4;ARL1,missense_variant,p.Gly127Glu,ENST00000536227,;ARL1,missense_variant,p.Gly98Glu,ENST00000539055,;ARL1,missense_variant,p.Gly144Glu,ENST00000551671,;ARL1,missense_variant,p.Gly127Glu,ENST00000551828,;ARL1,missense_variant,p.Gly15Glu,ENST00000551688,;ARL1,downstream_gene_variant,,ENST00000549283,;ARL1,3_prime_UTR_variant,,ENST00000551092,;ARL1,non_coding_transcript_exon_variant,,ENST00000550597,;							MODERATE	431/546	G144E	ARL1_HUMAN			Transcript		possibly_damaging(0.813)	.	ENSP00000261636		CCDS44958.1			1	
OR2M2	0	LGGM	GRCh37	1	248343804	248343804	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	157	39	.	.	ENST00000359682.2:c.517G>T	p.Glu173Ter	p.E173*	ENST00000359682	NM_001004688.1	173	Gaa/Taa	0	1	1	UPI00001612E4	0	NA	ENST00000359682		ENSG00000198601	8268		196	0		HGNC	p.E173X	COSM385236	OR2M2		SNV						1	ENST00000359682	protein_coding	getma.org/?cm=var&var=hg19,1,248343804,G,T&fts=all		PROSITE_profiles:PS50262,hmmpanther:PTHR26453,hmmpanther:PTHR26453:SF204,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		E/*		T	NA	517/1044		NA					YES	OR2M2,stop_gained,p.Glu173Ter,ENST00000359682,NM_001004688.1;					1		HIGH	517/1044	E173*	OR2M2_HUMAN			Transcript			.	ENSP00000352710		CCDS31106.1			1	
CHD3	0	LGGM	GRCh37	17	7810226	7810226	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	62	40	.	.	ENST00000380358.4:c.4720C>T	p.Pro1574Ser	p.P1574S	ENST00000380358	NM_001005271.2	1574	Ccg/Tcg	0	1		UPI00001AED64	0	NA	ENST00000330494		ENSG00000170004	1918		102	2.515		HGNC	p.P1574S		CHD3		SNV							ENST00000380358	protein_coding	getma.org/?cm=var&var=hg19,17,7810226,C,T&fts=all		hmmpanther:PTHR10799:SF544,hmmpanther:PTHR10799,Pfam_domain:PF06461		P/S		T	medium	4693/7328		getma.org/?cm=msa&ty=f&p=CHD3_HUMAN&rb=1363&re=1519&var=P1515S	deleterious(0.01)	Q2TAZ1_HUMAN				CHD3,missense_variant,p.Pro1574Ser,ENST00000380358,NM_001005271.2;CHD3,missense_variant,p.Pro1515Ser,ENST00000330494,NM_001005273.2;CHD3,missense_variant,p.Pro1515Ser,ENST00000358181,NM_005852.3;CHD3,upstream_gene_variant,,ENST00000439235,;CHD3,upstream_gene_variant,,ENST00000449744,;CHD3,upstream_gene_variant,,ENST00000573936,;SCARNA21,downstream_gene_variant,,ENST00000517026,;CHD3,3_prime_UTR_variant,,ENST00000470531,;CHD3,upstream_gene_variant,,ENST00000481999,;CHD3,upstream_gene_variant,,ENST00000572750,;CHD3,downstream_gene_variant,,ENST00000466233,;CHD3,downstream_gene_variant,,ENST00000473376,;							MODERATE	4543/6003	P1515S	CHD3_HUMAN			Transcript		benign(0.015)	.	ENSP00000332628		CCDS32554.1			1	
IFNA2	0	LGGM	GRCh37	9	21384924	21384924	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	98	40	.	.	ENST00000380206.2:c.405G>A	p.Lys135=	p.K135=	ENST00000380206	NM_000605.3	135	aaG/aaA	0	1	1	UPI0000034B3A	0		ENST00000380206		ENSG00000188379	5423		138			HGNC	p.K135K		IFNA2		SNV							ENST00000380206	protein_coding			Gene3D:1.20.1250.10,Pfam_domain:PF00143,hmmpanther:PTHR11691,hmmpanther:PTHR11691:SF24,SMART_domains:SM00076,Superfamily_domains:SSF47266		K		T		473/1143				Q6DJX8_HUMAN,Q16054_HUMAN			YES	IFNA2,synonymous_variant,p.=,ENST00000380206,NM_000605.3;							LOW	405/567		IFNA2_HUMAN			Transcript			.	ENSP00000369554		CCDS6506.1			1	
PLA1A	0	LGGM	GRCh37	3	119325738	119325738	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	108	40	.	.	ENST00000273371.4:c.191G>A	p.Gly64Glu	p.G64E	ENST00000273371	NM_015900.3	64	gGg/gAg	0	1	1	UPI0000073F97	0	getma.org/pdb.php?prot=PLA1A_HUMAN&from=15&to=336&var=G64E	ENST00000273371		ENSG00000144837	17661		148	1.94		HGNC	p.G64E	rs778796216	PLA1A		SNV							ENST00000273371	protein_coding	getma.org/?cm=var&var=hg19,3,119325738,G,A&fts=all		Superfamily_domains:SSF53474,PIRSF_domain:PIRSF000865,Gene3D:3.40.50.1820,Pfam_domain:PF00151,hmmpanther:PTHR11610,hmmpanther:PTHR11610:SF86		G/E		A	medium	263/1786	1.50E-05	getma.org/?cm=msa&ty=f&p=PLA1A_HUMAN&rb=15&re=336&var=G64E	deleterious(0)				YES	PLA1A,missense_variant,p.Gly64Glu,ENST00000273371,NM_015900.3;PLA1A,missense_variant,p.Gly48Glu,ENST00000494440,;PLA1A,missense_variant,p.Gly64Glu,ENST00000495992,NM_001206960.1;PLA1A,intron_variant,,ENST00000488919,NM_001206961.1;PLA1A,upstream_gene_variant,,ENST00000475963,;PLA1A,non_coding_transcript_exon_variant,,ENST00000472126,;							MODERATE	191/1371	G64E	PLA1A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000273371	8.24E-06	CCDS2991.1			1	
MED12L	0	LGGM	GRCh37	3	151067892	151067892	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	164	41	.	.	ENST00000474524.1:c.2191T>A	p.Tyr731Asn	p.Y731N	ENST00000474524	NM_053002.4	731	Tat/Aat	0	1	1	UPI000020A46B	0	NA	ENST00000474524		ENSG00000144893	16050		205	1.83		HGNC	p.Y731N		MED12L		SNV							ENST00000474524	protein_coding	getma.org/?cm=var&var=hg19,3,151067892,T,A&fts=all		hmmpanther:PTHR12796,hmmpanther:PTHR12796:SF5		Y/N		A	low	2229/10744		getma.org/?cm=msa&ty=f&p=MD12L_HUMAN&rb=731&re=930&var=Y731N	deleterious(0)				YES	MED12L,missense_variant,p.Tyr731Asn,ENST00000474524,NM_053002.4;MED12L,missense_variant,p.Tyr591Asn,ENST00000273432,;P2RY12,intron_variant,,ENST00000302632,NM_022788.4,NM_176876.2;MED12L,non_coding_transcript_exon_variant,,ENST00000491549,;MED12L,non_coding_transcript_exon_variant,,ENST00000468305,;							MODERATE	2191/6438	Y731N	MD12L_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000417235		CCDS33876.1			1	
A2ML1	0	LGGM	GRCh37	12	9004810	9004810	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	143	42	.	.	ENST00000299698.7:c.2468A>T	p.Gln823Leu	p.Q823L	ENST00000299698	NM_144670.4	823	cAg/cTg	0	1	1	UPI000022904E	0	getma.org/pdb.php?prot=A2ML1_HUMAN&from=736&to=826&var=Q823L	ENST00000299698		ENSG00000166535	23336		185	0.945		HGNC	p.Q373L		A2ML1		SNV			1				ENST00000541459	protein_coding	getma.org/?cm=var&var=hg19,12,9004810,A,T&fts=all		Pfam_domain:PF00207,hmmpanther:PTHR11412,hmmpanther:PTHR11412:SF79,Superfamily_domains:SSF81296		Q/L		T	low	2648/5274		getma.org/?cm=msa&ty=f&p=A2ML1_HUMAN&rb=736&re=826&var=Q823L	deleterious(0.01)	H0YGG5_HUMAN			YES	A2ML1,missense_variant,p.Gln823Leu,ENST00000299698,NM_144670.4,NM_001282424.1;A2ML1,missense_variant,p.Gln332Leu,ENST00000539547,;A2ML1,missense_variant,p.Gln373Leu,ENST00000541459,;A2ML1,downstream_gene_variant,,ENST00000545692,;A2ML1,downstream_gene_variant,,ENST00000540049,;							MODERATE	2468/4365	Q823L	A2ML1_HUMAN			Transcript		possibly_damaging(0.875)	.	ENSP00000299698		CCDS8596.2			1	
SPATA31D1	0	LGGM	GRCh37	9	84608267	84608267	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	156	42	.	.	ENST00000344803.2:c.2882C>T	p.Ser961Phe	p.S961F	ENST00000344803	NM_001001670.2	961	tCt/tTt	0	1	1	UPI00001C10A6	0	NA	ENST00000344803		ENSG00000214929	37283		198	0.895		HGNC	p.S961F		SPATA31D1		SNV							ENST00000344803	protein_coding	getma.org/?cm=var&var=hg19,9,84608267,C,T&fts=all		hmmpanther:PTHR21859:SF12,hmmpanther:PTHR21859		S/F		T	low	2929/4833		getma.org/?cm=msa&ty=f&p=F75D1_HUMAN&rb=341&re=979&var=S961F	tolerated(0.75)				YES	SPATA31D1,missense_variant,p.Ser961Phe,ENST00000344803,NM_001001670.2;SPATA31D1,downstream_gene_variant,,ENST00000603921,;							MODERATE	2882/4731	S961F	S31D1_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000341988		CCDS47986.1			1	
ZNF578	0	LGGM	GRCh37	19	53014683	53014683	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	168	43	.	.	ENST00000421239.2:c.1049A>C	p.Lys350Thr	p.K350T	ENST00000421239	NM_001099694.1	350	aAg/aCg	0	1	1	UPI000048A457	0	getma.org/pdb.php?prot=ZN578_HUMAN&from=104&to=129&var=K125T	ENST00000421239		ENSG00000258405	26449		211	2.81		HGNC	p.K350T		ZNF578		SNV							ENST00000421239	protein_coding	getma.org/?cm=var&var=hg19,19,53014683,A,C&fts=all		Gene3D:3.30.160.60,Pfam_domain:PF13465,PROSITE_patterns:PS00028,PROSITE_profiles:PS50157,hmmpanther:PTHR24407,hmmpanther:PTHR24407:SF12,SMART_domains:SM00355,Superfamily_domains:SSF57667		K/T		C	medium	1293/2017		getma.org/?cm=msa&ty=f&p=ZN578_HUMAN&rb=84&re=149&var=K125T	deleterious(0)	M0QZV4_HUMAN			YES	ZNF578,missense_variant,p.Lys350Thr,ENST00000421239,NM_001099694.1;ZNF578,downstream_gene_variant,,ENST00000601120,;CTD-3099C6.5,non_coding_transcript_exon_variant,,ENST00000599143,;							MODERATE	1049/1773	K125T	ZN578_HUMAN			Transcript		probably_damaging(0.997)	.	ENSP00000459216		CCDS54310.1			1	
PUF60	0	LGGM	GRCh37	8	144898806	144898806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	147	43	.	.	ENST00000526683.1:c.1564G>T	p.Ala522Ser	p.A522S	ENST00000526683	NM_001271098.1	522	Gcc/Tcc	0	1	1	UPI00000713CF	0	getma.org/pdb.php?prot=PUF60_HUMAN&from=462&to=549&var=A522S	ENST00000526683		ENSG00000179950	17042		190	0.37		HGNC	p.A522S		PUF60		SNV							ENST00000526683	protein_coding	getma.org/?cm=var&var=hg19,8,144898806,C,A&fts=all		PROSITE_profiles:PS50102,hmmpanther:PTHR24011:SF246,hmmpanther:PTHR24011,Gene3D:3.30.70.330,SMART_domains:SM00361,SMART_domains:SM00360,Superfamily_domains:SSF54928		A/S		A	neutral	2120/2412		getma.org/?cm=msa&ty=f&p=PUF60_HUMAN&rb=462&re=549&var=A522S	tolerated(0.52)				YES	PUF60,missense_variant,p.Ala522Ser,ENST00000526683,NM_001271098.1,NM_078480.2;PUF60,missense_variant,p.Ala479Ser,ENST00000453551,NM_001136033.2;PUF60,missense_variant,p.Ala505Ser,ENST00000349157,NM_014281.4,NM_001271096.1;PUF60,missense_variant,p.Ala462Ser,ENST00000313352,NM_001271100.1;PUF60,missense_variant,p.Ala493Ser,ENST00000456095,NM_001271099.1;PUF60,missense_variant,p.Ala476Ser,ENST00000527197,NM_001271097.1;SCRIB,upstream_gene_variant,,ENST00000356994,NM_182706.4;SCRIB,upstream_gene_variant,,ENST00000320476,NM_015356.4;SCRIB,upstream_gene_variant,,ENST00000377533,;PUF60,downstream_gene_variant,,ENST00000527744,;PUF60,downstream_gene_variant,,ENST00000526459,;PUF60,downstream_gene_variant,,ENST00000529999,;PUF60,downstream_gene_variant,,ENST00000532884,;PUF60,downstream_gene_variant,,ENST00000531897,;PUF60,downstream_gene_variant,,ENST00000533162,;MIR937,upstream_gene_variant,,ENST00000401271,;PUF60,downstream_gene_variant,,ENST00000524570,;PUF60,downstream_gene_variant,,ENST00000531951,;PUF60,downstream_gene_variant,,ENST00000533362,;PUF60,downstream_gene_variant,,ENST00000528999,;PUF60,downstream_gene_variant,,ENST00000528320,;PUF60,downstream_gene_variant,,ENST00000529693,;PUF60,downstream_gene_variant,,ENST00000531995,;PUF60,downstream_gene_variant,,ENST00000532127,;PUF60,downstream_gene_variant,,ENST00000526151,;PUF60,downstream_gene_variant,,ENST00000527584,;							MODERATE	1564/1680	A522S	PUF60_HUMAN			Transcript		benign(0.001)	.	ENSP00000434359		CCDS47934.1			1	
PIP5K1B	0	LGGM	GRCh37	9	71532481	71532481	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	173	43	.	.	ENST00000265382.3:c.789G>A	p.Lys263=	p.K263=	ENST00000265382	NM_003558.3	263	aaG/aaA	0	1	1	UPI000002E327	0		ENST00000265382		ENSG00000107242	8995		216			HGNC	p.K263K		PIP5K1B		SNV							ENST00000377290	protein_coding			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF34,Pfam_domain:PF01504,Gene3D:1bo1A02,SMART_domains:SM00330,Superfamily_domains:SSF56104		K		A		1094/2654				Q7KYT6_HUMAN,Q7KYT4_HUMAN,B4DIG7_HUMAN			YES	PIP5K1B,synonymous_variant,p.=,ENST00000265382,NM_003558.3;PIP5K1B,synonymous_variant,p.=,ENST00000541509,NM_001278253.1;PIP5K1B,synonymous_variant,p.=,ENST00000478500,;							LOW	789/1623		PI51B_HUMAN			Transcript			.	ENSP00000265382		CCDS6624.1			1	
PLXND1	0	LGGM	GRCh37	3	129289745	129289745	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	168	43	.	.	ENST00000324093.4:c.3634G>A	p.Glu1212Lys	p.E1212K	ENST00000324093	NM_015103.2	1212	Gag/Aag	0	1	1	UPI00003671AD	0	NA	ENST00000324093		ENSG00000004399	9107		211	2.135		HGNC	p.E1212K		PLXND1		SNV			1				ENST00000324093	protein_coding	getma.org/?cm=var&var=hg19,3,129289745,C,T&fts=all		hmmpanther:PTHR22625,hmmpanther:PTHR22625:SF7,Gene3D:2.60.40.10		E/K		T	medium	3813/7094		getma.org/?cm=msa&ty=f&p=PLXD1_HUMAN&rb=1152&re=1343&var=E1212K	deleterious(0)	Q6P657_HUMAN			YES	PLXND1,missense_variant,p.Glu1212Lys,ENST00000393239,;PLXND1,missense_variant,p.Glu1212Lys,ENST00000324093,NM_015103.2;PLXND1,non_coding_transcript_exon_variant,,ENST00000514990,;PLXND1,non_coding_transcript_exon_variant,,ENST00000504767,;PLXND1,non_coding_transcript_exon_variant,,ENST00000511018,;PLXND1,upstream_gene_variant,,ENST00000512744,;PLXND1,upstream_gene_variant,,ENST00000503166,;PLXND1,downstream_gene_variant,,ENST00000515191,;PLXND1,downstream_gene_variant,,ENST00000505505,;							MODERATE	3634/5778	E1212K	PLXD1_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000317128		CCDS33854.1			1	
MYLK	0	LGGM	GRCh37	3	123419128	123419128	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	91	44	.	.	ENST00000360304.3:c.3187A>T	p.Ser1063Cys	p.S1063C	ENST00000360304	NM_053025.3	1063	Agc/Tgc	0	1	1	UPI000020A0AE	0	NA	ENST00000360304		ENSG00000065534	7590		135	0.69		HGNC	p.S994C		MYLK		SNV			1				ENST00000346322	protein_coding	getma.org/?cm=var&var=hg19,3,123419128,T,A&fts=all		hmmpanther:PTHR22964,hmmpanther:PTHR22964:SF44		S/C		A	neutral	3469/7834		getma.org/?cm=msa&ty=f&p=MYLK_HUMAN&rb=1012&re=1097&var=S1063C	tolerated(0.13)	Q06S79_HUMAN,Q05B98_HUMAN,Q05B97_HUMAN,D6R9C2_HUMAN,B4DUE3_HUMAN			YES	MYLK,missense_variant,p.Ser1063Cys,ENST00000360772,;MYLK,missense_variant,p.Ser1063Cys,ENST00000360304,NM_053025.3;MYLK,missense_variant,p.Ser1063Cys,ENST00000359169,NM_053027.3,NM_053028.3;MYLK,missense_variant,p.Ser994Cys,ENST00000346322,NM_053026.3;MYLK,missense_variant,p.Ser1063Cys,ENST00000475616,;MYLK,upstream_gene_variant,,ENST00000510775,;MYLK,3_prime_UTR_variant,,ENST00000464489,;MYLK,non_coding_transcript_exon_variant,,ENST00000504946,;							MODERATE	3187/5745	S1063C	MYLK_HUMAN			Transcript		possibly_damaging(0.485)	.	ENSP00000353452		CCDS46896.1			1	
CBL	0	LGGM	GRCh37	11	119170486	119170486	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112501	H112501N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	191	46	.	.	ENST00000264033.4:c.2716A>G	p.Thr906Ala	p.T906A	ENST00000264033	NM_005188.3	906	Acc/Gcc	0	1	1	UPI000013D4A7	0	getma.org/pdb.php?prot=CBL_HUMAN&from=893&to=906&var=T906A	ENST00000264033		ENSG00000110395	1541		237	1.39		HGNC	p.T906A		CBL		SNV			1				ENST00000264033	protein_coding	getma.org/?cm=var&var=hg19,11,119170486,A,G&fts=all		hmmpanther:PTHR23007,hmmpanther:PTHR23007:SF5		T/A		G	low	3092/11465		getma.org/?cm=msa&ty=f&p=CBL_HUMAN&rb=863&re=906&var=T906A	deleterious_low_confidence(0)				YES	CBL,missense_variant,p.Thr906Ala,ENST00000264033,NM_005188.3;							MODERATE	2716/2721	T906A	CBL_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000264033		CCDS8418.1			1	
CEP63	0	LGGM	GRCh37	3	134267973	134267973	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	149	47	.	.	ENST00000337090.3:c.1137G>A	p.Lys379=	p.K379=	ENST00000337090		379	aaG/aaA	0	1	1	UPI000006D2FD	0		ENST00000337090		ENSG00000182923	25815		196			HGNC	p.K379K	rs774144544	CEP63		SNV			1				ENST00000383229	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18875,hmmpanther:PTHR18875:SF6		K		A		1310/5778	6.01E-05			D6RAY6_HUMAN,D6R9Q4_HUMAN			YES	CEP63,synonymous_variant,p.=,ENST00000337090,;CEP63,synonymous_variant,p.=,ENST00000513612,NM_025180.3;CEP63,synonymous_variant,p.=,ENST00000606977,;CEP63,synonymous_variant,p.=,ENST00000332047,NM_001042383.1;CEP63,synonymous_variant,p.=,ENST00000383229,NM_001042400.1;CEP63,synonymous_variant,p.=,ENST00000354446,NM_001042384.1;CEP63,synonymous_variant,p.=,ENST00000504929,;CEP63,synonymous_variant,p.=,ENST00000514678,;CEP63,downstream_gene_variant,,ENST00000508778,;CEP63,non_coding_transcript_exon_variant,,ENST00000513295,;CEP63,intron_variant,,ENST00000510625,;							LOW	1137/2112		CEP63_HUMAN			Transcript			.	ENSP00000336524	3.29E-05	CCDS3086.1			1	
PRPF38B	0	LGGM	GRCh37	1	109242555	109242555	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	277	51	.	.	ENST00000370025.4:c.1554G>C	p.Gln518His	p.Q518H	ENST00000370025	NM_018061.2	518	caG/caC	0	1	1	UPI000013CF13	0	NA	ENST00000370025		ENSG00000134186	25512		328	0.345		HGNC	p.Q407H		PRPF38B		SNV							ENST00000370021	protein_coding	getma.org/?cm=var&var=hg19,1,109242555,G,C&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR23142		Q/H		C	neutral	1823/3693		getma.org/?cm=msa&ty=f&p=PR38B_HUMAN&rb=388&re=544&var=Q518H	tolerated_low_confidence(1)				YES	PRPF38B,missense_variant,p.Gln407His,ENST00000370021,;PRPF38B,missense_variant,p.Gln518His,ENST00000370025,NM_018061.2;PRPF38B,downstream_gene_variant,,ENST00000370022,;PRPF38B,downstream_gene_variant,,ENST00000467302,;PRPF38B,downstream_gene_variant,,ENST00000485810,;							MODERATE	1554/1641	Q518H	PR38B_HUMAN			Transcript		unknown(0)	.	ENSP00000359042		CCDS788.1			1	
RP11-553A10.1	0	LGGM	GRCh37	3	110612105	110612105	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	76	52	.	.	ENST00000383686.2:c.105C>T	p.Ala35=	p.A35=	ENST00000383686		35	gcC/gcT	0	1	1	UPI00001603A2	0		ENST00000383686		ENSG00000206532			128			Clone_based_vega_gene	p.A35A		RP11-553A10.1		SNV							ENST00000383686	protein_coding			Low_complexity_(Seg):seg		A		A		219/820				I3L0C0_HUMAN			YES	RP11-553A10.1,synonymous_variant,p.=,ENST00000383686,;RP11-553A10.1,upstream_gene_variant,,ENST00000485473,;PVRL3-AS1,downstream_gene_variant,,ENST00000476301,;PVRL3-AS1,downstream_gene_variant,,ENST00000474769,;							LOW	105/600					Transcript			.	ENSP00000373184					1	
PCLO	0	LGGM	GRCh37	7	82583298	82583298	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	159	58	.	.	ENST00000333891.9:c.6971A>T	p.Lys2324Met	p.K2324M	ENST00000333891	NM_033026.5	2324	aAg/aTg	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		217	0		HGNC	p.K2324M		PCLO		SNV			1				ENST00000333891	protein_coding	getma.org/?cm=var&var=hg19,7,82583298,T,A&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		K/M		A	neutral	7309/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=K2255M					YES	PCLO,missense_variant,p.Lys2324Met,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Lys2324Met,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000437081,;							MODERATE	6971/15429	K2255M	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
ESRP1	0	LGGM	GRCh37	8	95683804	95683804	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112501	H112501N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	86	66	.	.	ENST00000433389.2:c.1357C>T	p.Pro453Ser	p.P453S	ENST00000433389	NM_001034915.2	453	Ccc/Tcc	0	1	1	UPI0000210327	0	getma.org/pdb.php?prot=ESRP1_HUMAN&from=447&to=519&var=P453S	ENST00000433389		ENSG00000104413	25966		152	3.165		HGNC	p.P312S	COSM3651991,COSM3651990	ESRP1		SNV						1,1	ENST00000517610	protein_coding	getma.org/?cm=var&var=hg19,8,95683804,C,T&fts=all		Gene3D:3.30.70.330,Pfam_domain:PF14259,hmmpanther:PTHR13976,hmmpanther:PTHR13976:SF37,SMART_domains:SM00360,Superfamily_domains:SSF54928		P/S		T	medium	1547/3770		getma.org/?cm=msa&ty=f&p=ESRP1_HUMAN&rb=447&re=519&var=P453S	deleterious(0)	E5RI26_HUMAN,E5RGE9_HUMAN			YES	ESRP1,missense_variant,p.Pro453Ser,ENST00000433389,NM_001034915.2,NM_017697.3;ESRP1,missense_variant,p.Pro453Ser,ENST00000358397,;ESRP1,missense_variant,p.Pro453Ser,ENST00000423620,NM_001122826.1;ESRP1,missense_variant,p.Pro453Ser,ENST00000454170,NM_001122825.1,NM_001122827.1;ESRP1,missense_variant,p.Pro319Ser,ENST00000519505,;ESRP1,missense_variant,p.Pro312Ser,ENST00000517610,;ESRP1,downstream_gene_variant,,ENST00000517556,;					1,1		MODERATE	1357/2046	P453S	ESRP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000405738		CCDS47897.1			1	
OR2M3	0	LGGM	GRCh37	1	248367041	248367041	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112501	H112501N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	138	72	.	.	ENST00000456743.1:c.672T>A	p.Ala224=	p.A224=	ENST00000456743	NM_001004689.1	224	gcT/gcA	0	1	1	UPI000004B234	0		ENST00000456743		ENSG00000228198	8269		210			HGNC	p.A224A		OR2M3		SNV							ENST00000456743	protein_coding			Superfamily_domains:SSF81321,Pfam_domain:PF13853,Gene3D:1.20.1070.10,hmmpanther:PTHR26453:SF204,hmmpanther:PTHR26453,PROSITE_profiles:PS50262		A		A		710/1061							YES	OR2M3,synonymous_variant,p.=,ENST00000456743,NM_001004689.1;							LOW	672/939		OR2M3_HUMAN			Transcript			.	ENSP00000389625		CCDS31107.1			1	
DMBT1	0	LGGM	GRCh37	10	124377717	124377717	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112501	H112501N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112501N.bam, H112501T.bam	Illumina HiSeq	131	80	.	.	ENST00000368909.3:c.4689G>A	p.Gln1563=	p.Q1563=	ENST00000368909	NM_007329.2	1563	caG/caA	0	1		UPI000047021C	0		ENST00000338354		ENSG00000187908	2926		211			HGNC	p.Q1563Q		DMBT1		SNV			1				ENST00000368953	protein_coding			Superfamily_domains:SSF56487,SMART_domains:SM00202,Pfam_domain:PF00530,Gene3D:3.10.250.10,PROSITE_profiles:PS50287		Q		A		4795/7686				B6V682_HUMAN				DMBT1,synonymous_variant,p.=,ENST00000338354,;DMBT1,synonymous_variant,p.=,ENST00000368909,NM_007329.2;DMBT1,synonymous_variant,p.=,ENST00000368955,NM_017579.2;DMBT1,synonymous_variant,p.=,ENST00000344338,;DMBT1,synonymous_variant,p.=,ENST00000368956,NM_004406.2;DMBT1,synonymous_variant,p.=,ENST00000330163,;DMBT1,synonymous_variant,p.=,ENST00000359586,;							LOW	4689/7242		DMBT1_HUMAN			Transcript			.	ENSP00000342210					1	
PRDM16	0	LGGM	GRCh37	1	3102968	3102968	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	18	2	.	.	ENST00000270722.5:c.317C>G	p.Ala106Gly	p.A106G	ENST00000270722		106	gCc/gGc	0	1	1	UPI0000458A29	0	getma.org/pdb.php?prot=PRD16_HUMAN&from=83&to=215&var=A106G	ENST00000270722		ENSG00000142611	14000		20	1.32		HGNC	p.A106G		PRDM16		SNV			1				ENST00000378398	protein_coding	getma.org/?cm=var&var=hg19,1,3102968,C,G&fts=all		PROSITE_profiles:PS50280,hmmpanther:PTHR24393:SF4,hmmpanther:PTHR24393,Gene3D:2.170.270.10,SMART_domains:SM00317,Superfamily_domains:SSF82199		A/G		G	low	366/8690		getma.org/?cm=msa&ty=f&p=PRD16_HUMAN&rb=83&re=215&var=A106G	deleterious(0.01)				YES	PRDM16,missense_variant,p.Ala106Gly,ENST00000378398,;PRDM16,missense_variant,p.Ala106Gly,ENST00000441472,NM_022114.3;PRDM16,missense_variant,p.Ala106Gly,ENST00000270722,;PRDM16,missense_variant,p.Ala106Gly,ENST00000442529,NM_199454.2;PRDM16,missense_variant,p.Ala106Gly,ENST00000378391,;PRDM16,missense_variant,p.Ala106Gly,ENST00000511072,;PRDM16,missense_variant,p.Ala106Gly,ENST00000514189,;PRDM16,non_coding_transcript_exon_variant,,ENST00000607632,;							MODERATE	317/3831	A106G	PRD16_HUMAN			Transcript		benign(0.171)	.	ENSP00000270722		CCDS41236.2			1	
SLC13A3	0	LGGM	GRCh37	20	45221149	45221149	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	15	2	.	.	ENST00000279027.4:c.814G>T	p.Val272Leu	p.V272L	ENST00000279027	NM_001193342.1	272	Gtg/Ttg	0	1	1	UPI000013542F	0	NA	ENST00000279027		ENSG00000158296	14430		17	0.705		HGNC	p.V225L		SLC13A3		SNV							ENST00000396360	protein_coding	getma.org/?cm=var&var=hg19,20,45221149,C,A&fts=all		hmmpanther:PTHR10283,hmmpanther:PTHR10283:SF62,Pfam_domain:PF00939		V/L		A	neutral	833/4017		getma.org/?cm=msa&ty=f&p=S13A3_HUMAN&rb=9&re=573&var=V272L	tolerated(0.27)	F6WI18_HUMAN,C9J7L4_HUMAN			YES	SLC13A3,missense_variant,p.Val272Leu,ENST00000279027,NM_001193342.1,NM_022829.5;SLC13A3,missense_variant,p.Val225Leu,ENST00000290317,NM_001011554.2;SLC13A3,missense_variant,p.Val225Leu,ENST00000396360,;SLC13A3,missense_variant,p.Val225Leu,ENST00000472148,NM_001193340.1;SLC13A3,missense_variant,p.Val225Leu,ENST00000495082,;SLC13A3,missense_variant,p.Val225Leu,ENST00000468915,;SLC13A3,missense_variant,p.Val102Leu,ENST00000450298,;SLC13A3,5_prime_UTR_variant,,ENST00000435032,;SLC13A3,intron_variant,,ENST00000413164,NM_001193339.1;SLC13A3,intron_variant,,ENST00000420568,;SLC13A3,intron_variant,,ENST00000372121,;SLC13A3,upstream_gene_variant,,ENST00000464518,;							MODERATE	814/1809	V272L	S13A3_HUMAN			Transcript		benign(0.055)	.	ENSP00000279027		CCDS13400.1			1	
TRAIP	0	LGGM	GRCh37	3	49867162	49867162	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	2	.	.	ENST00000331456.2:c.1124G>C	p.Gly375Ala	p.G375A	ENST00000331456	NM_005879.2	375	gGa/gCa	0	1	1	UPI000006FE67	0	NA	ENST00000331456		ENSG00000183763	30764		16	1.7		HGNC	p.G375A		TRAIP		SNV							ENST00000331456	protein_coding	getma.org/?cm=var&var=hg19,3,49867162,C,G&fts=all				G/A		G	low	1238/2026		getma.org/?cm=msa&ty=f&p=TRAIP_HUMAN&rb=81&re=468&var=G375A	tolerated(0.22)	A4UCT7_HUMAN			YES	TRAIP,missense_variant,p.Gly375Ala,ENST00000331456,NM_005879.2;TRAIP,missense_variant,p.Gly220Ala,ENST00000469027,;TRAIP,3_prime_UTR_variant,,ENST00000473195,;TRAIP,non_coding_transcript_exon_variant,,ENST00000491060,;TRAIP,downstream_gene_variant,,ENST00000475495,;							MODERATE	1124/1410	G375A	TRAIP_HUMAN			Transcript		benign(0.012)	.	ENSP00000328203		CCDS2806.1			1	
TBC1D9B	0	LGGM	GRCh37	5	179298526	179298526	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	2	.	.	ENST00000356834.3:c.2420G>T	p.Arg807Leu	p.R807L	ENST00000356834	NM_198868.2	807	cGa/cTa	0	1	1	UPI000034ECFF	0	NA	ENST00000356834		ENSG00000197226	29097		16	2.765		HGNC	p.R807L		TBC1D9B		SNV							ENST00000355235	protein_coding	getma.org/?cm=var&var=hg19,5,179298526,C,A&fts=all		hmmpanther:PTHR22957,hmmpanther:PTHR22957:SF225,Superfamily_domains:SSF47473		R/L		A	medium	2458/5173		getma.org/?cm=msa&ty=f&p=TBC9B_HUMAN&rb=716&re=915&var=R807L	deleterious(0)				YES	TBC1D9B,missense_variant,p.Arg807Leu,ENST00000356834,NM_198868.2;TBC1D9B,missense_variant,p.Arg807Leu,ENST00000355235,NM_015043.3;TBC1D9B,5_prime_UTR_variant,,ENST00000519746,;TBC1D9B,5_prime_UTR_variant,,ENST00000444477,;TBC1D9B,intron_variant,,ENST00000524222,;TBC1D9B,intron_variant,,ENST00000522472,;TBC1D9B,upstream_gene_variant,,ENST00000518085,;TBC1D9B,upstream_gene_variant,,ENST00000522180,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000521469,;TBC1D9B,non_coding_transcript_exon_variant,,ENST00000519757,;TBC1D9B,upstream_gene_variant,,ENST00000520794,;TBC1D9B,upstream_gene_variant,,ENST00000520912,;TBC1D9B,downstream_gene_variant,,ENST00000518459,;TBC1D9B,downstream_gene_variant,,ENST00000521669,;TBC1D9B,upstream_gene_variant,,ENST00000522921,;							MODERATE	2420/3753	R807L	TBC9B_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000349291		CCDS43408.1			1	
ERBB2	0	LGGM	GRCh37	17	37883795	37883795	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	22	2	.	.	ENST00000269571.5:c.3407A>G	p.Gln1136Arg	p.Q1136R	ENST00000269571		1136	cAg/cGg	0	1	1	UPI000003F55F	0	NA	ENST00000269571		ENSG00000141736	3430		24	0.895		HGNC	p.Q1106R		ERBB2		SNV			1				ENST00000406381	protein_coding	getma.org/?cm=var&var=hg19,17,37883795,A,G&fts=all		PIRSF_domain:PIRSF000619		Q/R		G	low	3566/4545		getma.org/?cm=msa&ty=f&p=ERBB2_HUMAN&rb=977&re=1231&var=Q1136R	tolerated(0.42)	Q9NP09_HUMAN,J3QLV2_HUMAN,J3KS21_HUMAN,F5H1T4_HUMAN			YES	ERBB2,missense_variant,p.Gln1106Arg,ENST00000406381,NM_001005862.1;ERBB2,missense_variant,p.Gln1106Arg,ENST00000584601,;ERBB2,missense_variant,p.Gln1106Arg,ENST00000540147,NM_004448.2;ERBB2,missense_variant,p.Gln1136Arg,ENST00000269571,;ERBB2,missense_variant,p.Gln1121Arg,ENST00000541774,;ERBB2,missense_variant,p.Gln860Arg,ENST00000445658,;ERBB2,intron_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,;							MODERATE	3407/3768	Q1136R	ERBB2_HUMAN			Transcript		benign(0.004)	.	ENSP00000269571		CCDS32642.1			1	
GPR153	0	LGGM	GRCh37	1	6311533	6311533	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	11	2	.	.	ENST00000377893.2:c.844G>T	p.Val282Leu	p.V282L	ENST00000377893	NM_207370.2	282	Gtg/Ttg	0	1	1	UPI000040E9D7	0	NA	ENST00000377893		ENSG00000158292	23618		13	0.895		HGNC	p.V282L		GPR153		SNV							ENST00000377893	protein_coding	getma.org/?cm=var&var=hg19,1,6311533,C,A&fts=all		Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR01991,hmmpanther:PTHR16518,hmmpanther:PTHR16518:SF5,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V/L		A	low	1104/4082		getma.org/?cm=msa&ty=f&p=GP153_HUMAN&rb=24&re=312&var=V282L	tolerated(0.15)				YES	GPR153,missense_variant,p.Val282Leu,ENST00000377893,NM_207370.2;							MODERATE	844/1830	V282L	GP153_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000367125		CCDS64.1			1	
F10	0	LGGM	GRCh37	13	113777190	113777190	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	30	3	.	.	ENST00000375559.3:c.21C>A	p.Leu7=	p.L7=	ENST00000375559	NM_000504.3	7	ctC/ctA	0	1	1	UPI000000DB39	0		ENST00000375559		ENSG00000126218	3528		33			HGNC	p.L7L		F10		SNV			1				ENST00000375559	protein_coding			PIRSF_domain:PIRSF001143,hmmpanther:PTHR24265,hmmpanther:PTHR24265:SF40,Low_complexity_(Seg):seg,Cleavage_site_(Signalp):SignalP-noTM,Transmembrane_helices:TMhelix		L		A		59/1517				Q5JVE7_HUMAN			YES	F10,synonymous_variant,p.=,ENST00000375559,NM_000504.3;F10,synonymous_variant,p.=,ENST00000375551,;F10,synonymous_variant,p.=,ENST00000409306,;F7,downstream_gene_variant,,ENST00000375581,NM_000131.4;F7,downstream_gene_variant,,ENST00000346342,NM_019616.3;F7,downstream_gene_variant,,ENST00000541084,NM_001267554.1;F10,non_coding_transcript_exon_variant,,ENST00000483537,;F10,synonymous_variant,p.=,ENST00000410083,;F10,non_coding_transcript_exon_variant,,ENST00000477269,;							LOW	21/1467		FA10_HUMAN			Transcript			.	ENSP00000364709		CCDS9530.1			1	
DNAH5	0	LGGM	GRCh37	5	13900503	13900503	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	43	3	.	.	ENST00000265104.4:c.2071G>T	p.Gly691Cys	p.G691C	ENST00000265104	NM_001369.2	691	Ggt/Tgt	0	1	1	UPI0000110101	0	NA	ENST00000265104		ENSG00000039139	2950		46	1.78		HGNC	p.G691C		DNAH5		SNV			1				ENST00000265104	protein_coding	getma.org/?cm=var&var=hg19,5,13900503,C,A&fts=all		Pfam_domain:PF08385,hmmpanther:PTHR10676,hmmpanther:PTHR10676:SF240		G/C		A	low	2176/15633		getma.org/?cm=msa&ty=f&p=DYH5_HUMAN&rb=246&re=804&var=G691C		O95496_HUMAN			YES	DNAH5,missense_variant,p.Gly691Cys,ENST00000265104,NM_001369.2;CTB-51A17.1,downstream_gene_variant,,ENST00000503244,;							MODERATE	2071/13875	G691C	DYH5_HUMAN			Transcript		probably_damaging(0.991)	.	ENSP00000265104		CCDS3882.1			1	
RNF38	0	LGGM	GRCh37	9	36357806	36357806	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	27	3	.	.	ENST00000259605.6:c.704G>T	p.Gly235Val	p.G235V	ENST00000259605	NM_022781.4	235	gGa/gTa	0	1	1	UPI00001D69FF	0	NA	ENST00000259605		ENSG00000137075	18052		30	2.045		HGNC	p.G152V		RNF38		SNV							ENST00000357058	protein_coding	getma.org/?cm=var&var=hg19,9,36357806,C,A&fts=all		hmmpanther:PTHR14155,hmmpanther:PTHR14155:SF81		G/V		A	medium	812/5012		getma.org/?cm=msa&ty=f&p=RNF38_HUMAN&rb=44&re=402&var=G235V	deleterious(0)	Q9H748_HUMAN			YES	RNF38,missense_variant,p.Gly152Val,ENST00000357058,NM_194328.2;RNF38,missense_variant,p.Gly152Val,ENST00000350199,NM_194332.2;RNF38,missense_variant,p.Gly235Val,ENST00000259605,NM_022781.4;RNF38,missense_variant,p.Gly152Val,ENST00000377885,NM_194330.2;RNF38,missense_variant,p.Gly185Val,ENST00000353739,NM_194329.2;RNF38,missense_variant,p.Gly159Val,ENST00000377877,;RNF38,non_coding_transcript_exon_variant,,ENST00000491349,;							MODERATE	704/1548	G235V	RNF38_HUMAN			Transcript		probably_damaging(0.973)	.	ENSP00000259605		CCDS6603.1			1	
PCNT	0	LGGM	GRCh37	21	47862456	47862456	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	17	3	.	.	ENST00000359568.5:c.9670G>T	p.Ala3224Ser	p.A3224S	ENST00000359568	NM_006031.5	3224	Gct/Tct	0	1	1	UPI00001AEB88	0	NA	ENST00000359568		ENSG00000160299	16068		20	2.015		HGNC	p.A3224S		PCNT		SNV			1				ENST00000359568	protein_coding	getma.org/?cm=var&var=hg19,21,47862456,G,T&fts=all		hmmpanther:PTHR18932:SF11,hmmpanther:PTHR18932		A/S		T	medium	9777/10560		getma.org/?cm=msa&ty=f&p=PCNT_HUMAN&rb=3218&re=3336&var=A3224S					YES	PCNT,missense_variant,p.Ala3224Ser,ENST00000359568,NM_006031.5;PCNT,missense_variant,p.Ala205Ser,ENST00000418394,;PCNT,non_coding_transcript_exon_variant,,ENST00000480896,;PCNT,non_coding_transcript_exon_variant,,ENST00000465356,;							MODERATE	9670/10011	A3224S	PCNT_HUMAN			Transcript		possibly_damaging(0.739)	.	ENSP00000352572		CCDS33592.1			1	
KCNN4	0	LGGM	GRCh37	19	44278386	44278386	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	12	3	.	.	ENST00000262888.3:c.641G>A	p.Gly214Asp	p.G214D	ENST00000262888	NM_002250.2	214	gGc/gAc	0	1	1	UPI0000000DF3	0	NA	ENST00000262888		ENSG00000104783	6293		15	0.55		HGNC	p.G214D		KCNN4		SNV							ENST00000262888	protein_coding	getma.org/?cm=var&var=hg19,19,44278386,C,T&fts=all		Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,hmmpanther:PTHR10153:SF4,hmmpanther:PTHR10153,Gene3D:1.10.287.70,Pfam_domain:PF07885,Superfamily_domains:SSF81324		G/D		T	neutral	1037/2240		getma.org/?cm=msa&ty=f&p=KCNN4_HUMAN&rb=211&re=291&var=G214D	deleterious(0.03)	M0R2E8_HUMAN,M0QZ70_HUMAN			YES	KCNN4,missense_variant,p.Gly214Asp,ENST00000262888,NM_002250.2;KCNN4,upstream_gene_variant,,ENST00000598836,;KCNN4,non_coding_transcript_exon_variant,,ENST00000599107,;KCNN4,intron_variant,,ENST00000599720,;KCNN4,upstream_gene_variant,,ENST00000601549,;KCNN4,upstream_gene_variant,,ENST00000600408,;							MODERATE	641/1284	G214D	KCNN4_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000262888		CCDS12630.1			1	
TNFSF10	0	LGGM	GRCh37	3	172241133	172241133	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	30	3	.	.	ENST00000241261.2:c.42G>T	p.Gln14His	p.Q14H	ENST00000241261	NM_003810.3	14	caG/caT	0	1	1	UPI0000001629	0	NA	ENST00000241261		ENSG00000121858	11925		33	1.79		HGNC	p.Q14H		TNFSF10		SNV							ENST00000241261	protein_coding	getma.org/?cm=var&var=hg19,3,172241133,C,A&fts=all		PIRSF_domain:PIRSF038013,hmmpanther:PTHR11471,hmmpanther:PTHR11471:SF27		Q/H		A	low	165/1953		getma.org/?cm=msa&ty=f&p=TNF10_HUMAN&rb=1&re=151&var=Q14H	deleterious(0.03)	Q6IBA9_HUMAN			YES	TNFSF10,missense_variant,p.Gln14His,ENST00000241261,NM_003810.3;TNFSF10,missense_variant,p.Gln14His,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,;							MODERATE	42/846	Q14H	TNF10_HUMAN			Transcript		benign(0.033)	.	ENSP00000241261		CCDS3219.1			1	
PKP1	0	LGGM	GRCh37	1	201285815	201285815	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	21	3	.	.	ENST00000263946.3:c.836C>A	p.Ala279Asp	p.A279D	ENST00000263946	NM_000299.3	279	gCc/gAc	0	1	1	UPI0000131B86	0	getma.org/pdb.php?prot=PKP1_HUMAN&from=276&to=316&var=A279D	ENST00000263946		ENSG00000081277	9023		24	2.415		HGNC	p.A279D		PKP1		SNV			1				ENST00000352845	protein_coding	getma.org/?cm=var&var=hg19,1,201285815,C,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF00514,hmmpanther:PTHR10372,hmmpanther:PTHR10372:SF3,SMART_domains:SM00185,Superfamily_domains:SSF48371		A/D		A	medium	1087/5447		getma.org/?cm=msa&ty=f&p=PKP1_HUMAN&rb=276&re=316&var=A279D	deleterious(0)	B4DRX5_HUMAN			YES	PKP1,missense_variant,p.Ala279Asp,ENST00000263946,NM_000299.3;PKP1,missense_variant,p.Ala279Asp,ENST00000367324,NM_001005337.2;PKP1,missense_variant,p.Ala279Asp,ENST00000352845,;PKP1,non_coding_transcript_exon_variant,,ENST00000475988,;							MODERATE	836/2244	A279D	PKP1_HUMAN			Transcript		probably_damaging(0.909)	.	ENSP00000263946		CCDS30966.1			1	
MADD	0	LGGM	GRCh37	11	47296635	47296635	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	39	3	.	.	ENST00000311027.5:c.584C>A	p.Thr195Asn	p.T195N	ENST00000311027	NM_003682.3	195	aCt/aAt	0	1	1	UPI000013E874	0	NA	ENST00000311027		ENSG00000110514	6766	8.64E-05	42	0.625		HGNC	p.T195N	rs750444984	MADD		SNV							ENST00000395344	protein_coding	getma.org/?cm=var&var=hg19,11,47296635,C,A&fts=all		SMART_domains:SM00799,Pfam_domain:PF02141,hmmpanther:PTHR13008:SF6,hmmpanther:PTHR13008,PROSITE_profiles:PS50211		T/N		A	neutral	749/5990		getma.org/?cm=msa&ty=f&p=MADD_HUMAN&rb=172&re=402&var=T195N	deleterious(0)	Q7KYV8_HUMAN,C9K0L0_HUMAN,C9JM97_HUMAN,C9JLZ9_HUMAN,C9J6B0_HUMAN			YES	MADD,missense_variant,p.Thr195Asn,ENST00000342922,NM_130470.2;MADD,missense_variant,p.Thr195Asn,ENST00000311027,NM_003682.3;MADD,missense_variant,p.Thr195Asn,ENST00000395336,NM_130475.2;MADD,missense_variant,p.Thr195Asn,ENST00000349238,NM_130473.2;MADD,missense_variant,p.Thr195Asn,ENST00000402192,NM_001135943.1,NM_130476.2;MADD,missense_variant,p.Thr195Asn,ENST00000407859,NM_130471.2;MADD,missense_variant,p.Thr195Asn,ENST00000402799,NM_001135944.1,NM_130472.2;MADD,missense_variant,p.Thr195Asn,ENST00000406482,NM_130474.2;MADD,missense_variant,p.Thr195Asn,ENST00000395344,;MADD,intron_variant,,ENST00000428807,;MADD,downstream_gene_variant,,ENST00000444117,;MADD,downstream_gene_variant,,ENST00000422579,;MADD,downstream_gene_variant,,ENST00000453571,;RP11-17G12.3,upstream_gene_variant,,ENST00000545474,;RP11-17G12.3,upstream_gene_variant,,ENST00000543925,;MADD,upstream_gene_variant,,ENST00000489415,;MADD,downstream_gene_variant,,ENST00000526603,;MADD,downstream_gene_variant,,ENST00000534808,;							MODERATE	584/4944	T195N	MADD_HUMAN			Transcript		possibly_damaging(0.864)	.	ENSP00000310933	8.24E-06	CCDS7930.1			1	
HIC2	0	LGGM	GRCh37	22	21800681	21800681	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	11	3	.	.	ENST00000443632.2:c.1497G>A	p.Thr499=	p.T499=	ENST00000443632		499	acG/acA	0	1		UPI000012C71C	0		ENST00000407464		ENSG00000169635	18595		14			HGNC	p.T499T		HIC2		SNV							ENST00000443632	protein_coding			hmmpanther:PTHR11389,hmmpanther:PTHR11389:SF321		T		A		1727/6798								HIC2,synonymous_variant,p.=,ENST00000443632,;HIC2,synonymous_variant,p.=,ENST00000407464,NM_015094.2;HIC2,synonymous_variant,p.=,ENST00000407598,;							LOW	1497/1848		HIC2_HUMAN			Transcript			.	ENSP00000385319		CCDS13789.1			1	
EYA4	0	LGGM	GRCh37	6	133834081	133834081	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	40	3	.	.	ENST00000367895.5:c.1406C>A	p.Thr469Lys	p.T469K	ENST00000367895	NM_004100.4	469	aCa/aAa	0	1	1	UPI000013D649	0	getma.org/pdb.php?prot=EYA4_HUMAN&from=28&to=637&var=T469K	ENST00000367895		ENSG00000112319	3522		43	2.395		HGNC	p.T475K		EYA4		SNV			1				ENST00000531901	protein_coding	getma.org/?cm=var&var=hg19,6,133834081,C,A&fts=all		hmmpanther:PTHR10190,hmmpanther:PTHR10190:SF17,TIGRFAM_domain:TIGR01658		T/K		A	medium	1870/5699		getma.org/?cm=msa&ty=f&p=EYA4_HUMAN&rb=28&re=637&var=T469K	deleterious(0.01)				YES	EYA4,missense_variant,p.Thr469Lys,ENST00000367895,NM_004100.4;EYA4,missense_variant,p.Thr469Lys,ENST00000355167,NM_172105.3;EYA4,missense_variant,p.Thr446Lys,ENST00000355286,NM_172103.3;EYA4,missense_variant,p.Thr446Lys,ENST00000525849,;EYA4,missense_variant,p.Thr475Lys,ENST00000531901,;EYA4,missense_variant,p.Thr415Lys,ENST00000452339,;EYA4,missense_variant,p.Thr421Lys,ENST00000430974,;EYA4,missense_variant,p.Thr469Lys,ENST00000431403,;RP3-323P13.2,intron_variant,,ENST00000607033,;RP3-323P13.2,upstream_gene_variant,,ENST00000451017,;EYA4,splice_region_variant,,ENST00000531861,;EYA4,splice_region_variant,,ENST00000532518,;HSPE1P21,upstream_gene_variant,,ENST00000438283,;							MODERATE	1406/1920	T469K	EYA4_HUMAN			Transcript		possibly_damaging(0.462)	.	ENSP00000356870		CCDS5165.1			1	
USP45	0	LGGM	GRCh37	6	99894019	99894019	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	35	3	.	.	ENST00000327681.6:c.1629G>T	p.Leu543=	p.L543=	ENST00000327681	NM_001080481.1	543	ctG/ctT	0	1	1	UPI0000253B80	0		ENST00000327681		ENSG00000123552	20080		38			HGNC	p.L543L		USP45		SNV							ENST00000500704	protein_coding			Pfam_domain:PF00443,PROSITE_profiles:PS50235,hmmpanther:PTHR24006,hmmpanther:PTHR24006:SF346		L		A		2162/6255				F5H1L5_HUMAN,D6RE98_HUMAN			YES	USP45,synonymous_variant,p.=,ENST00000327681,NM_001080481.1;USP45,synonymous_variant,p.=,ENST00000392738,;USP45,synonymous_variant,p.=,ENST00000500704,;USP45,synonymous_variant,p.=,ENST00000369233,;USP45,intron_variant,,ENST00000539675,;USP45,3_prime_UTR_variant,,ENST00000496518,;USP45,non_coding_transcript_exon_variant,,ENST00000513344,;							LOW	1629/2445		UBP45_HUMAN			Transcript			.	ENSP00000333376		CCDS34501.1			1	
ANKRD17	0	LGGM	GRCh37	4	73959811	73959811	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	31	3	.	.	ENST00000358602.4:c.5312G>T	p.Arg1771Leu	p.R1771L	ENST00000358602	NM_032217.3	1771	cGg/cTg	0	1	1	UPI00002263B0	0	getma.org/pdb.php?prot=ANR17_HUMAN&from=1727&to=1789&var=R1771L	ENST00000358602		ENSG00000132466	23575		34	3.29		HGNC	p.R1771L		ANKRD17		SNV							ENST00000358602	protein_coding	getma.org/?cm=var&var=hg19,4,73959811,C,A&fts=all		PROSITE_profiles:PS50084,hmmpanther:PTHR23206:SF1,hmmpanther:PTHR23206,Gene3D:3.30.1370.10,Pfam_domain:PF00013,SMART_domains:SM00322,Superfamily_domains:SSF54791		R/L		A	medium	5429/10784		getma.org/?cm=msa&ty=f&p=ANR17_HUMAN&rb=1727&re=1789&var=R1771L					YES	ANKRD17,missense_variant,p.Arg1771Leu,ENST00000358602,NM_032217.3;ANKRD17,missense_variant,p.Arg1655Leu,ENST00000558247,;ANKRD17,missense_variant,p.Arg1658Leu,ENST00000509867,NM_001286771.1;ANKRD17,missense_variant,p.Arg1520Leu,ENST00000330838,NM_198889.1;ANKRD17,downstream_gene_variant,,ENST00000513908,;HMGA1P2,upstream_gene_variant,,ENST00000430198,;							MODERATE	5312/7812	R1771L	ANR17_HUMAN			Transcript		possibly_damaging(0.532)	.	ENSP00000351416		CCDS34004.1			1	
PDS5B	0	LGGM	GRCh37	13	33232421	33232421	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	4	3	.	.	ENST00000315596.10:c.358A>T	p.Thr120Ser	p.T120S	ENST00000315596	NM_015032.3	120	Aca/Tca	0	1	1	UPI000006D4A9	0	NA	ENST00000315596		ENSG00000083642	20418		7	1.78		HGNC	p.T120S		PDS5B		SNV							ENST00000450460	protein_coding	getma.org/?cm=var&var=hg19,13,33232421,A,T&fts=all		hmmpanther:PTHR12663,hmmpanther:PTHR12663:SF1,Superfamily_domains:SSF48371		T/S		T	low	544/7497		getma.org/?cm=msa&ty=f&p=PDS5B_HUMAN&rb=1&re=1137&var=T120S	deleterious(0.04)				YES	PDS5B,missense_variant,p.Thr120Ser,ENST00000315596,NM_015032.3;PDS5B,missense_variant,p.Thr120Ser,ENST00000450460,;PDS5B,non_coding_transcript_exon_variant,,ENST00000498550,;PDS5B,non_coding_transcript_exon_variant,,ENST00000482955,;							MODERATE	358/4344	T120S	PDS5B_HUMAN			Transcript		benign(0.054)	.	ENSP00000313851		CCDS41878.1			1	
ATN1	0	LGGM	GRCh37	12	7048088	7048088	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	43	3	.	.	ENST00000356654.4:c.2962C>A	p.Pro988Thr	p.P988T	ENST00000356654	NM_001007026.1	988	Cct/Act	0	1	1	UPI000006F554	0	NA	ENST00000356654		ENSG00000111676	3033		46	1.7		HGNC	p.P988T		ATN1		SNV			1				ENST00000356654	protein_coding	getma.org/?cm=var&var=hg19,12,7048088,C,A&fts=all		Pfam_domain:PF03154,hmmpanther:PTHR13859,hmmpanther:PTHR13859:SF9,Low_complexity_(Seg):seg		P/T		A	low	3199/4351		getma.org/?cm=msa&ty=f&p=ATN1_HUMAN&rb=349&re=1190&var=P988T		Q86V38_HUMAN			YES	ATN1,missense_variant,p.Pro988Thr,ENST00000356654,NM_001007026.1;ATN1,missense_variant,p.Pro988Thr,ENST00000396684,NM_001940.3;C12orf57,upstream_gene_variant,,ENST00000544681,;C12orf57,upstream_gene_variant,,ENST00000537087,;C12orf57,upstream_gene_variant,,ENST00000545581,;RNU7-1,upstream_gene_variant,,ENST00000458811,NR_023317.1;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,;							MODERATE	2962/3573	P988T	ATN1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000349076		CCDS31734.1			1	
AMER3	0	LGGM	GRCh37	2	131520734	131520734	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	21	3	.	.	ENST00000423981.1:c.1089A>T	p.Lys363Asn	p.K363N	ENST00000423981	NM_001105194.1	363	aaA/aaT	0	1		UPI0000D61239	0	NA	ENST00000321420		ENSG00000178171	26771		24	2.015		HGNC	p.K363N		AMER3		SNV							ENST00000423981	protein_coding	getma.org/?cm=var&var=hg19,2,131520734,A,T&fts=all		Pfam_domain:PF09422,hmmpanther:PTHR22237,hmmpanther:PTHR22237:SF2		K/N		T	medium	1348/3273		getma.org/?cm=msa&ty=f&p=AMER3_HUMAN&rb=201&re=400&var=K363N	deleterious(0.03)	C9JS07_HUMAN,C9J4B8_HUMAN				AMER3,missense_variant,p.Lys363Asn,ENST00000423981,NM_001105194.1,NM_001105195.1,NM_152698.2,NM_001105193.1;AMER3,missense_variant,p.Lys363Asn,ENST00000321420,;AMER3,downstream_gene_variant,,ENST00000458606,;AMER3,downstream_gene_variant,,ENST00000431758,;							MODERATE	1089/2586	K363N	AMER3_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000314914		CCDS2164.1			1	
TRIM5	0	LGGM	GRCh37	11	5699590	5699590	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	44	3	.	.	ENST00000380034.3:c.588G>T	p.Glu196Asp	p.E196D	ENST00000380034	NM_033034.2	196	gaG/gaT	0	1	1	UPI00000717A7	0	NA	ENST00000380034		ENSG00000132256	16276		47	3.41		HGNC	p.E196D		TRIM5		SNV							ENST00000433961	protein_coding	getma.org/?cm=var&var=hg19,11,5699590,C,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF49		E/D		A	medium	845/2991		getma.org/?cm=msa&ty=f&p=TRIM5_HUMAN&rb=132&re=331&var=E196D	deleterious(0)	L7REZ6_HUMAN,L7RET5_HUMAN,E7EQQ5_HUMAN,D8L201_HUMAN,C9JWN8_HUMAN			YES	TRIM5,missense_variant,p.Glu196Asp,ENST00000305836,;TRIM5,missense_variant,p.Glu196Asp,ENST00000396847,;TRIM5,missense_variant,p.Glu196Asp,ENST00000380034,NM_033034.2,NM_033092.2;TRIM5,missense_variant,p.Glu196Asp,ENST00000380027,;TRIM5,missense_variant,p.Glu196Asp,ENST00000396855,NM_033093.2;TRIM5,missense_variant,p.Glu196Asp,ENST00000396853,;TRIM5,missense_variant,p.Glu196Asp,ENST00000412903,;TRIM5,missense_variant,p.Glu73Asp,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,missense_variant,p.Glu196Asp,ENST00000433961,;TRIM5,non_coding_transcript_exon_variant,,ENST00000487241,;							MODERATE	588/1482	E196D	TRIM5_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000369373		CCDS31393.1			1	
GRM2	0	LGGM	GRCh37	3	51746727	51746727	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	18	3	.	.	ENST00000395052.3:c.689C>T	p.Ala230Val	p.A230V	ENST00000395052	NM_000839.3	230	gCc/gTc	0	1	1	UPI000013E346	0	getma.org/pdb.php?prot=GRM2_HUMAN&from=60&to=459&var=A230V	ENST00000395052		ENSG00000164082	4594		21	1.23		HGNC	p.A230V		GRM2		SNV							ENST00000296479	protein_coding	getma.org/?cm=var&var=hg19,3,51746727,C,T&fts=all		hmmpanther:PTHR24060,Gene3D:3.40.50.2300,Pfam_domain:PF01094,Superfamily_domains:SSF53822		A/V		T	low	923/3151		getma.org/?cm=msa&ty=f&p=GRM2_HUMAN&rb=60&re=459&var=A230V	tolerated(0.15)	C9JD41_HUMAN			YES	GRM2,missense_variant,p.Ala230Val,ENST00000395052,NM_000839.3;GRM2,missense_variant,p.Ala230Val,ENST00000442933,;GRM2,downstream_gene_variant,,ENST00000419928,;GRM2,non_coding_transcript_exon_variant,,ENST00000496661,;GRM2,intron_variant,,ENST00000475478,;GRM2,downstream_gene_variant,,ENST00000477330,;GRM2,missense_variant,p.Ala230Val,ENST00000296479,;GRM2,non_coding_transcript_exon_variant,,ENST00000464585,;							MODERATE	689/2619	A230V	GRM2_HUMAN			Transcript		benign(0.034)	.	ENSP00000378492		CCDS2834.1			1	
NLE1	0	LGGM	GRCh37	17	33464060	33464060	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	41	4	.	.	ENST00000442241.4:c.788C>G	p.Ala263Gly	p.A263G	ENST00000442241	NM_001014445.1	263	gCc/gGc	0	1	1	UPI000013D293	0	getma.org/pdb.php?prot=NLE1_HUMAN&from=236&to=273&var=A263G	ENST00000442241		ENSG00000073536	19889		45	0.185		HGNC	p.A221G		NLE1		SNV							ENST00000360831	protein_coding	getma.org/?cm=var&var=hg19,17,33464060,G,C&fts=all		PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR19848:SF0,hmmpanther:PTHR19848,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		A/G		C	neutral	828/2588		getma.org/?cm=msa&ty=f&p=NLE1_HUMAN&rb=236&re=273&var=A263G	tolerated(0.77)	K7ERN7_HUMAN			YES	NLE1,missense_variant,p.Ala263Gly,ENST00000442241,NM_001014445.1,NM_018096.3;NLE1,missense_variant,p.Ala221Gly,ENST00000360831,;NLE1,missense_variant,p.Ala43Gly,ENST00000588019,;NLE1,5_prime_UTR_variant,,ENST00000586869,;NLE1,non_coding_transcript_exon_variant,,ENST00000593176,;NLE1,3_prime_UTR_variant,,ENST00000589367,;NLE1,downstream_gene_variant,,ENST00000588642,;							MODERATE	788/1458	A263G	NLE1_HUMAN			Transcript		benign(0.047)	.	ENSP00000413572		CCDS11291.1			1	
TIAM1	0	LGGM	GRCh37	21	32499468	32499468	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	24	4	.	.	ENST00000286827.3:c.4048G>T	p.Ala1350Ser	p.A1350S	ENST00000286827	NM_003253.2	1350	Gca/Tca	0	1	1	UPI000013DE6F	0	getma.org/pdb.php?prot=TIAM1_HUMAN&from=1261&to=1397&var=A1350S	ENST00000286827		ENSG00000156299	11805		28	0.41		HGNC	p.A1290S		TIAM1		SNV							ENST00000541036	protein_coding	getma.org/?cm=var&var=hg19,21,32499468,C,A&fts=all		Superfamily_domains:SSF50729,SMART_domains:SM00233,Gene3D:2.30.29.30,hmmpanther:PTHR22826:SF88,hmmpanther:PTHR22826		A/S		A	neutral	4520/7200		getma.org/?cm=msa&ty=f&p=TIAM1_HUMAN&rb=1261&re=1397&var=A1350S	tolerated(0.46)	C9JMB5_HUMAN			YES	TIAM1,missense_variant,p.Ala1350Ser,ENST00000286827,NM_003253.2;TIAM1,missense_variant,p.Ala1290Ser,ENST00000541036,;TIAM1,missense_variant,p.Ala5Ser,ENST00000423206,;TIAM1,splice_region_variant,,ENST00000491927,;							MODERATE	4048/4776	A1350S	TIAM1_HUMAN			Transcript		benign(0.001)	.	ENSP00000286827		CCDS13609.1			1	
EFHC2	0	LGGM	GRCh37	X	44107644	44107644	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	8	4	.	.	ENST00000420999.1:c.985G>T	p.Asp329Tyr	p.D329Y	ENST00000420999	NM_025184.3	329	Gac/Tac	0	1	1	UPI00000717F2	0	NA	ENST00000420999		ENSG00000183690	26233		12	0.735		HGNC	p.D357Y		EFHC2		SNV							ENST00000420999	protein_coding	getma.org/?cm=var&var=hg19,X,44107644,C,A&fts=all		PROSITE_profiles:PS51336,hmmpanther:PTHR12086,hmmpanther:PTHR12086:SF11,SMART_domains:SM00676		D/Y		A	neutral	1069/2464		getma.org/?cm=msa&ty=f&p=EFHC2_HUMAN&rb=226&re=368&var=D329Y	tolerated(0.15)				YES	EFHC2,missense_variant,p.Asp329Tyr,ENST00000420999,NM_025184.3;							MODERATE	985/2250	D329Y	EFHC2_HUMAN			Transcript		benign(0.009)	.	ENSP00000404232		CCDS55405.1			1	
SYNJ1	0	LGGM	GRCh37	21	34066546	34066546	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	11	4	.	.	ENST00000433931.2:c.898G>T	p.Gly300Trp	p.G300W	ENST00000433931	NM_003895.3	300	Ggg/Tgg	0	1	1	UPI0001A47572	0	getma.org/pdb.php?prot=SYNJ1_HUMAN&from=59&to=346&var=G261W	ENST00000433931		ENSG00000159082	11503		15	3.605		HGNC	p.G261W		SYNJ1		SNV			1				ENST00000322229	protein_coding	getma.org/?cm=var&var=hg19,21,34066546,C,A&fts=all		Pfam_domain:PF02383,hmmpanther:PTHR11200:SF126,hmmpanther:PTHR11200,PROSITE_profiles:PS50275		G/W		A	high	906/4852		getma.org/?cm=msa&ty=f&p=SYNJ1_HUMAN&rb=59&re=346&var=G261W	deleterious(0)	J3KQV8_HUMAN,C9J1Z6_HUMAN			YES	SYNJ1,missense_variant,p.Gly300Trp,ENST00000382499,NM_203446.2;SYNJ1,missense_variant,p.Gly261Trp,ENST00000357345,NM_001160302.1;SYNJ1,missense_variant,p.Gly261Trp,ENST00000382491,NM_001160306.1;SYNJ1,missense_variant,p.Gly300Trp,ENST00000433931,NM_003895.3;SYNJ1,missense_variant,p.Gly261Trp,ENST00000322229,;SYNJ1,missense_variant,p.Gly261Trp,ENST00000429236,;SYNJ1,downstream_gene_variant,,ENST00000456084,;							MODERATE	898/4839	G261W				Transcript		probably_damaging(1)	.	ENSP00000409667		CCDS33539.2			1	
CRX	0	LGGM	GRCh37	19	48342794	48342794	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	20	5	.	.	ENST00000221996.7:c.470T>A	p.Val157Glu	p.V157E	ENST00000221996	NM_000554.4	157	gTg/gAg	0	1	1	UPI00001284E0	0	NA	ENST00000221996		ENSG00000105392	2383		25	1.39		HGNC	p.V157E		CRX		SNV			1				ENST00000557738	protein_coding	getma.org/?cm=var&var=hg19,19,48342794,T,A&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF271		V/E		A	low	676/4469		getma.org/?cm=msa&ty=f&p=CRX_HUMAN&rb=97&re=163&var=V157E	tolerated(0.58)	Q0QD45_HUMAN,H3BUU7_HUMAN,A4GUB7_HUMAN			YES	CRX,missense_variant,p.Val157Glu,ENST00000221996,NM_000554.4;CRX,missense_variant,p.Val157Glu,ENST00000539067,;TPRX2P,intron_variant,,ENST00000535362,;CRX,downstream_gene_variant,,ENST00000566686,;CRX,upstream_gene_variant,,ENST00000602001,;CRX,downstream_gene_variant,,ENST00000556527,;							MODERATE	470/900	V157E	CRX_HUMAN			Transcript		benign(0.191)	.	ENSP00000221996		CCDS12706.1			1	
FOXJ3	0	LGGM	GRCh37	1	42647671	42647671	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	6	5	.	.	ENST00000372572.1:c.1670A>G	p.Gln557Arg	p.Q557R	ENST00000372572	NM_001198851.1	557	cAa/cGa	0	1		UPI000013D359	0	NA	ENST00000361346		ENSG00000198815	29178		11	1.1		HGNC	p.Q557R		FOXJ3		SNV							ENST00000361346	protein_coding	getma.org/?cm=var&var=hg19,1,42647671,T,C&fts=all		hmmpanther:PTHR11829:SF104,hmmpanther:PTHR11829		Q/R		C	low	1861/5225		getma.org/?cm=msa&ty=f&p=FOXJ3_HUMAN&rb=447&re=620&var=Q557R	tolerated(0.17)	F6VXT0_HUMAN,C9JXI1_HUMAN				FOXJ3,missense_variant,p.Gln557Arg,ENST00000372572,NM_001198851.1;FOXJ3,missense_variant,p.Gln557Arg,ENST00000372573,NM_001198850.1;FOXJ3,missense_variant,p.Gln557Arg,ENST00000361346,NM_014947.4;FOXJ3,missense_variant,p.Gln557Arg,ENST00000545068,;FOXJ3,missense_variant,p.Gln523Arg,ENST00000361776,NM_001198852.1;FOXJ3,missense_variant,p.Gln71Arg,ENST00000372571,;							MODERATE	1670/1869	Q557R	FOXJ3_HUMAN			Transcript		benign(0.08)	.	ENSP00000354620		CCDS30689.1			1	
CDCA8	0	LGGM	GRCh37	1	38158448	38158448	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	12	5	.	.	ENST00000373055.1:c.86A>G	p.Asp29Gly	p.D29G	ENST00000373055	NM_001256875.1	29	gAc/gGc	0	1		UPI000007033D	0	getma.org/pdb.php?prot=BOREA_HUMAN&from=19&to=77&var=D29G	ENST00000327331		ENSG00000134690	14629		17	1.955		HGNC	p.D29G		CDCA8		SNV							ENST00000327331	protein_coding	getma.org/?cm=var&var=hg19,1,38158448,A,G&fts=all		Coiled-coils_(Ncoils):Coil,Pfam_domain:PF10444,hmmpanther:PTHR16040,hmmpanther:PTHR16040:SF2		D/G		G	medium	199/2303		getma.org/?cm=msa&ty=f&p=BOREA_HUMAN&rb=19&re=77&var=D29G	deleterious(0)					CDCA8,missense_variant,p.Asp29Gly,ENST00000373055,NM_001256875.1,NM_018101.3;CDCA8,missense_variant,p.Asp29Gly,ENST00000327331,;C1orf109,upstream_gene_variant,,ENST00000358011,NM_017850.1;C1orf109,upstream_gene_variant,,ENST00000464085,;C1orf109,upstream_gene_variant,,ENST00000486637,;C1orf109,upstream_gene_variant,,ENST00000461359,;C1orf109,upstream_gene_variant,,ENST00000488137,;C1orf109,upstream_gene_variant,,ENST00000491981,;C1orf109,upstream_gene_variant,,ENST00000477060,;C1orf109,upstream_gene_variant,,ENST00000464178,;C1orf109,upstream_gene_variant,,ENST00000498448,;C1orf109,upstream_gene_variant,,ENST00000472584,;C1orf109,upstream_gene_variant,,ENST00000491797,;C1orf109,upstream_gene_variant,,ENST00000494120,;							MODERATE	86/843	D29G	BOREA_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000316121		CCDS424.1			1	
MAST1	0	LGGM	GRCh37	19	12984227	12984227	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	15	5	.	.	ENST00000251472.4:c.3353T>G	p.Leu1118Arg	p.L1118R	ENST00000251472	NM_014975.2	1118	cTg/cGg	0	1	1	UPI000004A042	0	NA	ENST00000251472		ENSG00000105613	19034		20	2.35		HGNC	p.L1118R		MAST1		SNV							ENST00000251472	protein_coding	getma.org/?cm=var&var=hg19,19,12984227,T,G&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24356,hmmpanther:PTHR24356:SF150		L/R		G	medium	3392/4833		getma.org/?cm=msa&ty=f&p=MAST1_HUMAN&rb=1056&re=1340&var=L1118R	deleterious(0)				YES	MAST1,missense_variant,p.Leu1118Arg,ENST00000251472,NM_014975.2;DNASE2,downstream_gene_variant,,ENST00000222219,NM_001375.2;DNASE2,downstream_gene_variant,,ENST00000538460,;DNASE2,downstream_gene_variant,,ENST00000592506,;AC020934.1,upstream_gene_variant,,ENST00000578125,;HOOK2,upstream_gene_variant,,ENST00000589765,;MAST1,non_coding_transcript_exon_variant,,ENST00000585791,;MAST1,non_coding_transcript_exon_variant,,ENST00000590553,;DNASE2,downstream_gene_variant,,ENST00000588777,;DNASE2,downstream_gene_variant,,ENST00000586547,;							MODERATE	3353/4713	L1118R	MAST1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000251472		CCDS32921.1			1	
PRAP1	0	LGGM	GRCh37	10	135164892	135164892	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	9	5	.	.	ENST00000433452.2:c.83T>A	p.Ile28Asn	p.I28N	ENST00000433452		28	aTc/aAc	0	1	1	UPI00001F98FB	0	NA	ENST00000433452		ENSG00000165828	23304		14	0.55		HGNC	p.I28N		PRAP1		SNV							ENST00000458230	protein_coding	getma.org/?cm=var&var=hg19,10,135164892,T,A&fts=all				I/N		A	neutral	355/971		getma.org/?cm=msa&ty=f&p=PRAP1_HUMAN&rb=2&re=40&var=I28N	deleterious(0.04)				YES	ZNF511,missense_variant,p.Ile187Asn,ENST00000368554,;PRAP1,missense_variant,p.Ile28Asn,ENST00000433452,;PRAP1,missense_variant,p.Ile28Asn,ENST00000423766,NM_145202.4;PRAP1,missense_variant,p.Ile28Asn,ENST00000458230,NM_001145201.1;FUOM,downstream_gene_variant,,ENST00000278025,NM_198472.2;FUOM,downstream_gene_variant,,ENST00000368551,;FUOM,downstream_gene_variant,,ENST00000447176,;FUOM,downstream_gene_variant,,ENST00000368552,NM_001098483.1;RP11-122K13.7,upstream_gene_variant,,ENST00000452591,;PRAP1,non_coding_transcript_exon_variant,,ENST00000463201,;FUOM,downstream_gene_variant,,ENST00000465384,;FUOM,downstream_gene_variant,,ENST00000478895,;							MODERATE	83/456	I28N	PRAP1_HUMAN			Transcript		benign(0.248)	.	ENSP00000416126		CCDS7679.1			1	
GRM3	0	LGGM	GRCh37	7	86468948	86468948	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	28	5	.	.	ENST00000361669.2:c.2118G>T	p.Trp706Cys	p.W706C	ENST00000361669	NM_000840.2	706	tgG/tgT	0	1	1	UPI0000153EFC	0	NA	ENST00000361669		ENSG00000198822	4595		33	3.895		HGNC	p.W298C		GRM3		SNV							ENST00000546348	protein_coding	getma.org/?cm=var&var=hg19,7,86468948,G,T&fts=all		Pfam_domain:PF00003,Prints_domain:PR00248,PROSITE_profiles:PS50259,hmmpanther:PTHR24060,Transmembrane_helices:TMhelix		W/C		T	high	3217/4268		getma.org/?cm=msa&ty=f&p=GRM3_HUMAN&rb=586&re=826&var=W706C	deleterious(0)	C9JUH9_HUMAN,C9JIT1_HUMAN,A4D1D0_HUMAN			YES	GRM3,missense_variant,p.Trp706Cys,ENST00000361669,NM_000840.2;GRM3,missense_variant,p.Trp578Cys,ENST00000536043,;GRM3,missense_variant,p.Trp298Cys,ENST00000546348,;GRM3,intron_variant,,ENST00000394720,;GRM3,intron_variant,,ENST00000439827,;							MODERATE	2118/2640	W706C	GRM3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000355316		CCDS5600.1			1	
IPO4	0	LGGM	GRCh37	14	24653925	24653925	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	5	5	.	.	ENST00000354464.6:c.1567A>G	p.Met523Val	p.M523V	ENST00000354464	NM_024658.3	523	Atg/Gtg	0	1	1	UPI000013CCB3	0	NA	ENST00000354464		ENSG00000196497	19426		10	1.04		HGNC	p.M523V	rs778814830	IPO4		SNV							ENST00000560155	protein_coding	getma.org/?cm=var&var=hg19,14,24653925,T,C&fts=all		hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF6,Gene3D:1.25.10.10,Superfamily_domains:SSF48371		M/V		C	low	1744/3646	1.63E-05	getma.org/?cm=msa&ty=f&p=IPO4_HUMAN&rb=392&re=549&var=M523V	tolerated(0.22)	Q6I9Y8_HUMAN,D3DS63_HUMAN			YES	IPO4,missense_variant,p.Met523Val,ENST00000354464,NM_024658.3;TM9SF1,downstream_gene_variant,,ENST00000556387,;TM9SF1,downstream_gene_variant,,ENST00000530611,;TM9SF1,downstream_gene_variant,,ENST00000261789,NM_006405.5;TM9SF1,downstream_gene_variant,,ENST00000528669,;REC8,downstream_gene_variant,,ENST00000311457,;REC8,downstream_gene_variant,,ENST00000559919,NM_005132.2,NM_001048205.1;TM9SF1,downstream_gene_variant,,ENST00000524835,;IPO4,upstream_gene_variant,,ENST00000561462,;IPO4,upstream_gene_variant,,ENST00000558233,;TM9SF1,downstream_gene_variant,,ENST00000532632,;REC8,downstream_gene_variant,,ENST00000559939,;IPO4,missense_variant,p.Met523Val,ENST00000560155,;RP11-468E2.2,3_prime_UTR_variant,,ENST00000561419,;IPO4,3_prime_UTR_variant,,ENST00000558780,;IPO4,3_prime_UTR_variant,,ENST00000558046,;IPO4,non_coding_transcript_exon_variant,,ENST00000561090,;IPO4,non_coding_transcript_exon_variant,,ENST00000560798,;IPO4,non_coding_transcript_exon_variant,,ENST00000559588,;IPO4,non_coding_transcript_exon_variant,,ENST00000561199,;REC8,downstream_gene_variant,,ENST00000557979,;TM9SF1,downstream_gene_variant,,ENST00000529332,;REC8,downstream_gene_variant,,ENST00000559797,;IPO4,upstream_gene_variant,,ENST00000560935,;IPO4,upstream_gene_variant,,ENST00000561379,;IPO4,downstream_gene_variant,,ENST00000559253,;IPO4,downstream_gene_variant,,ENST00000560222,;IPO4,downstream_gene_variant,,ENST00000560315,;IPO4,downstream_gene_variant,,ENST00000558193,;IPO4,downstream_gene_variant,,ENST00000558718,;IPO4,downstream_gene_variant,,ENST00000561034,;IPO4,downstream_gene_variant,,ENST00000557996,;IPO4,downstream_gene_variant,,ENST00000559635,;REC8,downstream_gene_variant,,ENST00000558381,;							MODERATE	1567/3246	M523V	IPO4_HUMAN			Transcript		benign(0.001)	.	ENSP00000346453	8.26E-06	CCDS9616.1			1	
C12orf60	0	LGGM	GRCh37	12	14976336	14976336	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	36	6	.	.	ENST00000330828.2:c.467T>A	p.Phe156Tyr	p.F156Y	ENST00000330828	NM_175874.3	156	tTc/tAc	0	1	1	UPI00001608A3	0	NA	ENST00000330828		ENSG00000182993	28726		42	0.895		HGNC	p.F156Y		C12orf60		SNV							ENST00000330828	protein_coding	getma.org/?cm=var&var=hg19,12,14976336,T,A&fts=all		Pfam_domain:PF15047		F/Y		A	low	671/1684		getma.org/?cm=msa&ty=f&p=CL060_HUMAN&rb=1&re=166&var=F156Y	deleterious(0.01)				YES	C12orf60,missense_variant,p.Phe156Tyr,ENST00000330828,NM_175874.3;ART4,downstream_gene_variant,,ENST00000228936,NM_021071.2;C12orf60,intron_variant,,ENST00000527783,;C12orf60,intron_variant,,ENST00000533472,;							MODERATE	467/738	F156Y	CL060_HUMAN			Transcript		possibly_damaging(0.773)	.	ENSP00000331691		CCDS8667.1			1	
SLC5A8	0	LGGM	GRCh37	12	101603403	101603403	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	9	6	.	.	ENST00000536262.2:c.224C>G	p.Pro75Arg	p.P75R	ENST00000536262	NM_145913.3	75	cCc/cGc	0	1	1	UPI000004DAF6	0	getma.org/pdb.php?prot=SC5A8_HUMAN&from=45&to=449&var=P75R	ENST00000536262		ENSG00000256870	19119		15	3.56		HGNC	p.P75R		SLC5A8		SNV							ENST00000536262	protein_coding	getma.org/?cm=var&var=hg19,12,101603403,G,C&fts=all		Pfam_domain:PF00474,PROSITE_profiles:PS50283,hmmpanther:PTHR11819,hmmpanther:PTHR11819:SF121,TIGRFAM_domain:TIGR00813		P/R		C	high	783/4178		getma.org/?cm=msa&ty=f&p=SC5A8_HUMAN&rb=45&re=449&var=P75R	deleterious(0)				YES	SLC5A8,missense_variant,p.Pro75Arg,ENST00000536262,NM_145913.3;							MODERATE	224/1833	P75R	SC5A8_HUMAN			Transcript		probably_damaging(0.979)	.	ENSP00000445340		CCDS9080.1			1	
TLN1	0	LGGM	GRCh37	9	35724870	35724870	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	18	6	.	.	ENST00000314888.9:c.315T>A	p.Ser105=	p.S105=	ENST00000314888	NM_006289.3	105	tcT/tcA	0	1	1	UPI0000211375	0		ENST00000314888		ENSG00000137076	11845		24			HGNC	p.S105S		TLN1		SNV							ENST00000540444	protein_coding			Superfamily_domains:SSF54236,SMART_domains:SM00295,Pfam_domain:PF09379,hmmpanther:PTHR19981:SF7,hmmpanther:PTHR19981,PROSITE_profiles:PS50057		S		T		669/8823							YES	TLN1,synonymous_variant,p.=,ENST00000314888,NM_006289.3;TLN1,synonymous_variant,p.=,ENST00000540444,;TLN1,non_coding_transcript_exon_variant,,ENST00000378192,;							LOW	315/7626		TLN1_HUMAN			Transcript			.	ENSP00000316029		CCDS35009.1			1	
ESF1	0	LGGM	GRCh37	20	13714379	13714379	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	70	6	.	.	ENST00000202816.1:c.1939A>T	p.Arg647Trp	p.R647W	ENST00000202816	NM_001276380.1	647	Agg/Tgg	0	1	1	UPI00001285C8	0	NA	ENST00000202816		ENSG00000089048	15898		76	1.385		HGNC	p.R647W		ESF1		SNV							ENST00000202816	protein_coding	getma.org/?cm=var&var=hg19,20,13714379,T,A&fts=all		Low_complexity_(Seg):seg,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR12202		R/W		A	low	2047/3216		getma.org/?cm=msa&ty=f&p=ESF1_HUMAN&rb=604&re=758&var=R647W	deleterious(0)				YES	ESF1,missense_variant,p.Arg647Trp,ENST00000202816,NM_001276380.1,NM_016649.3;							MODERATE	1939/2556	R647W	ESF1_HUMAN			Transcript		possibly_damaging(0.502)	.	ENSP00000202816		CCDS13117.1			1	
NRP2	0	LGGM	GRCh37	2	206590673	206590673	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	32	6	.	.	ENST00000360409.3:c.857G>A	p.Gly286Asp	p.G286D	ENST00000360409	NM_003872.2	286	gGc/gAc	0	1	1	UPI000014020F	0	getma.org/pdb.php?prot=NRP2_HUMAN&from=277&to=427&var=G286D	ENST00000360409		ENSG00000118257	8005		38	2.765		HGNC	p.G286D		NRP2		SNV							ENST00000360409	protein_coding	getma.org/?cm=var&var=hg19,2,206590673,G,A&fts=all		PROSITE_profiles:PS50022,hmmpanther:PTHR10127:SF30,hmmpanther:PTHR10127,Gene3D:2.60.120.260,PIRSF_domain:PIRSF036960,SMART_domains:SM00231,Superfamily_domains:SSF49785		G/D		A	medium	1648/6662		getma.org/?cm=msa&ty=f&p=NRP2_HUMAN&rb=277&re=427&var=G286D	deleterious(0)	C9JH98_HUMAN			YES	NRP2,missense_variant,p.Gly286Asp,ENST00000360409,NM_003872.2,NM_201266.1,NM_201279.1;NRP2,missense_variant,p.Gly286Asp,ENST00000540178,;NRP2,missense_variant,p.Gly286Asp,ENST00000540841,;NRP2,missense_variant,p.Gly286Asp,ENST00000357118,NM_201267.1;NRP2,missense_variant,p.Gly286Asp,ENST00000272849,NM_018534.3;NRP2,missense_variant,p.Gly286Asp,ENST00000357785,;NRP2,missense_variant,p.Gly286Asp,ENST00000412873,;NRP2,missense_variant,p.Gly286Asp,ENST00000355117,NM_201264.1;NRP2,missense_variant,p.Gly286Asp,ENST00000417189,;NRP2,downstream_gene_variant,,ENST00000477199,;							MODERATE	857/2796	G286D	NRP2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000353582		CCDS2364.1			1	
MAGEB18	0	LGGM	GRCh37	X	26158089	26158089	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	2	6	.	.	ENST00000325250.1:c.987T>C	p.Asn329=	p.N329=	ENST00000325250	NM_173699.3	329	aaT/aaC	0	1	1	UPI00001415E3	0		ENST00000325250		ENSG00000176774	28515		8			HGNC	p.N329N		MAGEB18		SNV							ENST00000325250	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR11736,hmmpanther:PTHR11736:SF23		N		C		1174/1811							YES	MAGEB18,synonymous_variant,p.=,ENST00000325250,NM_173699.3;							LOW	987/1032		MAGBI_HUMAN			Transcript			.	ENSP00000314543		CCDS14216.1			1	
IGHM	0	LGGM	GRCh37	14	106321821	106321821	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	4	6	.	.	ENST00000390559.2:c.413G>A	p.Gly138Asp	p.G138D	ENST00000390559		138	gGt/gAt	0	1	1	UPI000173A6A1	0		ENST00000390559		ENSG00000211899	5541		10			HGNC	p.G138D		IGHM		SNV			1				ENST00000390559	IG_C_gene			Superfamily_domains:SSF48726,SMART_domains:SM00407,Gene3D:2.60.40.10,Pfam_domain:PF07654,hmmpanther:PTHR23266,hmmpanther:PTHR23266:SF83,PROSITE_profiles:PS50835		G/D		T		413/1461			tolerated(0.49)	Q86TT1_HUMAN			YES	IGHM,missense_variant,p.Gly138Asp,ENST00000390559,;hsa-mir-4538,downstream_gene_variant,,ENST00000581318,;AL122127.1,downstream_gene_variant,,ENST00000581354,;hsa-mir-4537,downstream_gene_variant,,ENST00000581717,;AL122127.4,downstream_gene_variant,,ENST00000581720,;AL122127.3,downstream_gene_variant,,ENST00000580379,;hsa-mir-4539,downstream_gene_variant,,ENST00000579784,;AL122127.2,downstream_gene_variant,,ENST00000581918,;AL122127.5,downstream_gene_variant,,ENST00000582202,;							MODERATE	413/1362					Transcript		benign(0.028)	.	ENSP00000375001					1	
CILP	0	LGGM	GRCh37	15	65489515	65489515	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	7	.	.	ENST00000261883.4:c.3109A>T	p.Ser1037Cys	p.S1037C	ENST00000261883	NM_003613.3	1037	Agt/Tgt	0	1	1	UPI000013D21B	0	NA	ENST00000261883		ENSG00000138615	1980		21	1.61		HGNC	p.S1037C		CILP		SNV			1				ENST00000261883	protein_coding	getma.org/?cm=var&var=hg19,15,65489515,T,A&fts=all		hmmpanther:PTHR15031,hmmpanther:PTHR15031:SF3		S/C		A	low	3276/4454		getma.org/?cm=msa&ty=f&p=CILP1_HUMAN&rb=411&re=1180&var=S1037C	deleterious(0.01)				YES	CILP,missense_variant,p.Ser1037Cys,ENST00000261883,NM_003613.3;							MODERATE	3109/3555	S1037C	CILP1_HUMAN			Transcript		possibly_damaging(0.695)	.	ENSP00000261883		CCDS10203.1			1	
PALD1	0	LGGM	GRCh37	10	72298085	72298085	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	7	.	.	ENST00000263563.6:c.1373C>T	p.Pro458Leu	p.P458L	ENST00000263563	NM_014431.2	458	cCt/cTt	0	1	1	UPI00001C1EDC	0	NA	ENST00000263563		ENSG00000107719	23530		21	2.695		HGNC	p.P458L		PALD1		SNV							ENST00000263563	protein_coding	getma.org/?cm=var&var=hg19,10,72298085,C,T&fts=all		Superfamily_domains:SSF52799,Gene3D:3.90.190.10,hmmpanther:PTHR23339:SF34,hmmpanther:PTHR23339		P/L		T	medium	1641/4555		getma.org/?cm=msa&ty=f&p=PALD_HUMAN&rb=1&re=847&var=P458L	deleterious(0.01)				YES	PALD1,missense_variant,p.Pro458Leu,ENST00000263563,NM_014431.2;							MODERATE	1373/2571	P458L	PALD_HUMAN			Transcript		benign(0.078)	.	ENSP00000263563		CCDS31215.1			1	
CPSF3L	0	LGGM	GRCh37	1	1248434	1248434	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	5	8	.	.	ENST00000540437.1:c.1130A>C	p.Glu377Ala	p.E377A	ENST00000540437	NM_001256456.1	377	gAg/gCg	0	1		UPI00000467EC	0	getma.org/pdb.php?prot=INT11_HUMAN&from=364&to=375&var=E371A	ENST00000435064		ENSG00000127054	26052		13	2.31		HGNC	p.E371A		CPSF3L		SNV							ENST00000435064	protein_coding	getma.org/?cm=var&var=hg19,1,1248434,T,G&fts=all		hmmpanther:PTHR11203,hmmpanther:PTHR11203:SF11,Superfamily_domains:SSF56281		E/A		G	medium	1195/2148		getma.org/?cm=msa&ty=f&p=INT11_HUMAN&rb=334&re=405&var=E371A	tolerated(0.06)	J3QRY6_HUMAN,E9PNH9_HUMAN				CPSF3L,missense_variant,p.Glu377Ala,ENST00000540437,NM_001256456.1;CPSF3L,missense_variant,p.Glu371Ala,ENST00000435064,NM_017871.5,NM_001256460.1;CPSF3L,missense_variant,p.Glu342Ala,ENST00000545578,;CPSF3L,missense_variant,p.Glu113Ala,ENST00000421495,;CPSF3L,missense_variant,p.Glu349Ala,ENST00000450926,;CPSF3L,missense_variant,p.Glu273Ala,ENST00000411962,NM_001256462.1;CPSF3L,missense_variant,p.Glu270Ala,ENST00000419704,NM_001256463.1;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,;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,3_prime_UTR_variant,,ENST00000531377,;CPSF3L,3_prime_UTR_variant,,ENST00000527383,;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,,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,upstream_gene_variant,,ENST00000497304,;CPSF3L,downstream_gene_variant,,ENST00000430786,;CPSF3L,downstream_gene_variant,,ENST00000525603,;CPSF3L,downstream_gene_variant,,ENST00000531292,;CPSF3L,downstream_gene_variant,,ENST00000526797,;CPSF3L,downstream_gene_variant,,ENST00000467408,;CPSF3L,downstream_gene_variant,,ENST00000526113,;CPSF3L,downstream_gene_variant,,ENST00000526904,;CPSF3L,downstream_gene_variant,,ENST00000531020,;CPSF3L,downstream_gene_variant,,ENST00000533916,;							MODERATE	1112/1803	E371A	INT11_HUMAN			Transcript		possibly_damaging(0.77)	.	ENSP00000413493		CCDS21.1			1	
ELOVL7	0	LGGM	GRCh37	5	60067791	60067791	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	23	8	.	.	ENST00000508821.1:c.194A>T	p.Lys65Met	p.K65M	ENST00000508821	NM_024930.2	65	aAg/aTg	0	1		UPI000004CAF4	0	NA	ENST00000425382		ENSG00000164181	26292		31	3.915		HGNC	p.K65M		ELOVL7		SNV							ENST00000425382	protein_coding	getma.org/?cm=var&var=hg19,5,60067791,T,A&fts=all		Pfam_domain:PF01151,hmmpanther:PTHR11157,hmmpanther:PTHR11157:SF8		K/M		A	high	343/3827		getma.org/?cm=msa&ty=f&p=ELOV7_HUMAN&rb=29&re=269&var=K65M	deleterious(0)	D6RBM2_HUMAN				ELOVL7,missense_variant,p.Lys52Met,ENST00000505959,;ELOVL7,missense_variant,p.Lys65Met,ENST00000508821,NM_024930.2;ELOVL7,missense_variant,p.Lys65Met,ENST00000438340,;ELOVL7,missense_variant,p.Lys65Met,ENST00000425382,NM_001104558.1;ELOVL7,missense_variant,p.Lys65Met,ENST00000511799,;ELOVL7,missense_variant,p.Lys65Met,ENST00000507047,;ELOVL7,missense_variant,p.Lys65Met,ENST00000504455,;ELOVL7,missense_variant,p.Lys65Met,ENST00000514809,;							MODERATE	194/846	K65M	ELOV7_HUMAN			Transcript		probably_damaging(0.959)	.	ENSP00000402634		CCDS34164.1			1	
DTX4	0	LGGM	GRCh37	11	58949761	58949761	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	8	.	.	ENST00000227451.3:c.761C>T	p.Pro254Leu	p.P254L	ENST00000227451	NM_015177.1	254	cCa/cTa	0	1	1	UPI00001C1F00	0	NA	ENST00000227451		ENSG00000110042	29151		22	1.5		HGNC	p.P148L		DTX4		SNV							ENST00000532982	protein_coding	getma.org/?cm=var&var=hg19,11,58949761,C,T&fts=all		hmmpanther:PTHR12622,hmmpanther:PTHR12622:SF5		P/L		T	low	865/5642		getma.org/?cm=msa&ty=f&p=DTX4_HUMAN&rb=156&re=355&var=P254L	tolerated(0.15)				YES	DTX4,missense_variant,p.Pro254Leu,ENST00000227451,NM_015177.1;DTX4,missense_variant,p.Pro148Leu,ENST00000532982,;DTX4,upstream_gene_variant,,ENST00000531902,;							MODERATE	761/1860	P254L	DTX4_HUMAN			Transcript		benign(0.002)	.	ENSP00000227451		CCDS44612.1			1	
RNH1	0	LGGM	GRCh37	11	498523	498523	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	12	8	.	.	ENST00000534797.1:c.890G>A	p.Gly297Glu	p.G297E	ENST00000534797		297	gGg/gAg	0	1		UPI0000000DE4	0	getma.org/pdb.php?prot=RINI_HUMAN&from=136&to=335&var=G297E	ENST00000354420		ENSG00000023191	10074		20	2		HGNC	p.G297E		RNH1		SNV							ENST00000438658	protein_coding	getma.org/?cm=var&var=hg19,11,498523,C,T&fts=all		Gene3D:3.80.10.10,Pfam_domain:PF13516,hmmpanther:PTHR24112,hmmpanther:PTHR24112:SF30,SMART_domains:SM00368,Superfamily_domains:SSF52047		G/E		T	medium	1259/1894		getma.org/?cm=msa&ty=f&p=RINI_HUMAN&rb=136&re=335&var=G297E	deleterious(0.02)	E9PR82_HUMAN,E9PMJ3_HUMAN,E9PMI1_HUMAN,E9PLZ3_HUMAN,E9PIM9_HUMAN				RNH1,missense_variant,p.Gly297Glu,ENST00000534797,;RNH1,missense_variant,p.Gly297Glu,ENST00000397615,NM_203383.1,NM_002939.3;RNH1,missense_variant,p.Gly297Glu,ENST00000354420,NM_203387.2;RNH1,missense_variant,p.Gly297Glu,ENST00000397614,NM_203385.1;RNH1,missense_variant,p.Gly297Glu,ENST00000533410,NM_203386.2;RNH1,missense_variant,p.Gly297Glu,ENST00000356187,NM_203389.2;RNH1,missense_variant,p.Gly297Glu,ENST00000438658,NM_203384.1;RNH1,missense_variant,p.Gly297Glu,ENST00000397604,NM_203388.2;RNH1,missense_variant,p.Gly91Glu,ENST00000529768,;RNH1,downstream_gene_variant,,ENST00000527485,;RNH1,downstream_gene_variant,,ENST00000529306,;RNH1,downstream_gene_variant,,ENST00000529368,;RNH1,downstream_gene_variant,,ENST00000531149,;RNH1,downstream_gene_variant,,ENST00000532055,;RNH1,downstream_gene_variant,,ENST00000531540,;RNH1,downstream_gene_variant,,ENST00000533592,;RNH1,downstream_gene_variant,,ENST00000526295,;RNH1,splice_region_variant,,ENST00000524464,;RNH1,3_prime_UTR_variant,,ENST00000525701,;RNH1,non_coding_transcript_exon_variant,,ENST00000525522,;RNH1,downstream_gene_variant,,ENST00000528713,;RNH1,downstream_gene_variant,,ENST00000524780,;RNH1,downstream_gene_variant,,ENST00000529115,;RNH1,downstream_gene_variant,,ENST00000531223,;							MODERATE	890/1386	G297E	RINI_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000346402		CCDS7697.1			1	
EZR	0	LGGM	GRCh37	6	159188293	159188293	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	9	.	.	ENST00000367075.3:c.1596G>C	p.Leu532=	p.L532=	ENST00000367075	NM_001111077.1	532	ctG/ctC	0	1		UPI0000167BA1	0		ENST00000337147		ENSG00000092820	12691		23			HGNC	p.L532L		EZR		SNV							ENST00000337147	protein_coding			Superfamily_domains:0036951,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00769,PIRSF_domain:PIRSF002305,hmmpanther:PTHR23281,hmmpanther:PTHR23281:SF19		L		G		1730/3068				B7Z9R6_HUMAN				EZR,splice_region_variant,p.=,ENST00000367075,NM_001111077.1;EZR,splice_region_variant,p.=,ENST00000337147,NM_003379.4;EZR,splice_region_variant,p.=,ENST00000392177,;SYTL3,downstream_gene_variant,,ENST00000297239,;SYTL3,downstream_gene_variant,,ENST00000360448,NM_001242394.1,NM_001242384.1,NM_001009991.3,NM_001242395.1;SYTL3,downstream_gene_variant,,ENST00000367081,;MIR3918,upstream_gene_variant,,ENST00000581555,;							LOW	1596/1761		EZRI_HUMAN			Transcript			.	ENSP00000338934		CCDS5258.1			1	
PDE3B	0	LGGM	GRCh37	11	14666555	14666555	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	36	9	.	.	ENST00000282096.4:c.934A>G	p.Lys312Glu	p.K312E	ENST00000282096	NM_000922.3	312	Aaa/Gaa	0	1	1	UPI000013DCB7	0	NA	ENST00000282096		ENSG00000152270	8779		45	2.135		HGNC	p.K312E		PDE3B		SNV							ENST00000455098	protein_coding	getma.org/?cm=var&var=hg19,11,14666555,A,G&fts=all		hmmpanther:PTHR11347:SF29,hmmpanther:PTHR11347		K/E		G	medium	1287/4836		getma.org/?cm=msa&ty=f&p=PDE3B_HUMAN&rb=233&re=657&var=K312E	deleterious(0)				YES	PDE3B,missense_variant,p.Lys312Glu,ENST00000282096,NM_000922.3;PDE3B,missense_variant,p.Lys312Glu,ENST00000455098,;PSMA1,upstream_gene_variant,,ENST00000418988,NM_148976.2;PDE3B,non_coding_transcript_exon_variant,,ENST00000534317,;PSMA1,upstream_gene_variant,,ENST00000528018,;							MODERATE	934/3339	K312E	PDE3B_HUMAN			Transcript		benign(0.242)	.	ENSP00000282096		CCDS7817.1			1	
CACNB3	0	LGGM	GRCh37	12	49217247	49217247	+	stop_gained,splice_region_variant	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	11	10	.	.	ENST00000301050.2:c.166A>T	p.Lys56Ter	p.K56*	ENST00000301050	NM_000725.3	56	Aag/Tag	0	1	1	UPI000000D9BA	0	NA	ENST00000301050		ENSG00000167535	1403		21	0		HGNC	p.K55X		CACNB3		SNV							ENST00000548874	protein_coding	getma.org/?cm=var&var=hg19,12,49217247,A,T&fts=all		Gene3D:2.30.30.40,Pfam_domain:PF12052,hmmpanther:PTHR11824,Superfamily_domains:SSF50044		K/*		T	NA	365/2696		NA		F8VUW8_HUMAN,F8VU10_HUMAN			YES	CACNB3,stop_gained,p.Lys56Ter,ENST00000301050,NM_000725.3;CACNB3,stop_gained,p.Lys56Ter,ENST00000547230,NM_001206915.1;CACNB3,stop_gained,p.Lys56Ter,ENST00000547392,;CACNB3,stop_gained,p.Lys55Ter,ENST00000536187,NM_001206916.1;CACNB3,stop_gained,p.Lys43Ter,ENST00000540990,NM_001206917.1;CACNB3,stop_gained,p.Lys56Ter,ENST00000548279,;CACNB3,stop_gained,p.Lys7Ter,ENST00000550190,;CACNB3,splice_region_variant,,ENST00000547818,;CACNB3,splice_region_variant,,ENST00000550064,;CACNB3,splice_region_variant,,ENST00000550168,;CACNB3,splice_region_variant,,ENST00000552022,;CACNB3,splice_region_variant,,ENST00000549971,;CACNB3,stop_gained,p.Lys43Ter,ENST00000550391,;CACNB3,stop_gained,p.Lys55Ter,ENST00000548874,;CACNB3,splice_region_variant,,ENST00000548860,;CACNB3,splice_region_variant,,ENST00000551544,;CACNB3,splice_region_variant,,ENST00000549226,;CACNB3,splice_region_variant,,ENST00000550771,;CACNB3,splice_region_variant,,ENST00000551716,;CACNB3,splice_region_variant,,ENST00000547693,;CACNB3,downstream_gene_variant,,ENST00000552812,;CACNB3,upstream_gene_variant,,ENST00000552480,;CACNB3,upstream_gene_variant,,ENST00000550483,;							HIGH	166/1455	K56*	CACB3_HUMAN			Transcript			.	ENSP00000301050		CCDS8769.1			1	
PKHD1L1	0	LGGM	GRCh37	8	110527417	110527417	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	14	10	.	.	ENST00000378402.5:c.11572T>A	p.Phe3858Ile	p.F3858I	ENST00000378402	NM_177531.4	3858	Ttc/Atc	0	1	1	UPI0000E5B020	0	NA	ENST00000378402		ENSG00000205038	20313		24	2.485		HGNC	p.F786I		PKHD1L1		SNV							ENST00000526472	protein_coding	getma.org/?cm=var&var=hg19,8,110527417,T,A&fts=all		hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF213		F/I		A	medium	11676/13076		getma.org/?cm=msa&ty=f&p=PKHL1_HUMAN&rb=3755&re=3954&var=F3858I	deleterious(0)				YES	PKHD1L1,missense_variant,p.Phe3858Ile,ENST00000378402,NM_177531.4;PKHD1L1,missense_variant,p.Phe786Ile,ENST00000526472,;							MODERATE	11572/12732	F3858I	PKHL1_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000367655		CCDS47911.1			1	
MYOT	0	LGGM	GRCh37	5	137223038	137223038	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	30	10	.	.	ENST00000239926.4:c.1461A>T	p.Ala487=	p.A487=	ENST00000239926	NM_006790.2	487	gcA/gcT	0	1	1	UPI000013CA96	0		ENST00000239926		ENSG00000120729	12399		40			HGNC	p.A372A		MYOT		SNV			1				ENST00000515645	protein_coding			hmmpanther:PTHR19897		A		T		1835/2337				B4DT68_HUMAN			YES	MYOT,synonymous_variant,p.=,ENST00000239926,NM_006790.2;MYOT,synonymous_variant,p.=,ENST00000515645,;MYOT,synonymous_variant,p.=,ENST00000421631,NM_001135940.1;PKD2L2,upstream_gene_variant,,ENST00000508638,NM_001258449.1;PKD2L2,upstream_gene_variant,,ENST00000508883,;PKD2L2,upstream_gene_variant,,ENST00000290431,NM_014386.3;PKD2L2,upstream_gene_variant,,ENST00000502810,NM_001258448.1;PKD2L2,upstream_gene_variant,,ENST00000503015,;PKD2L2,upstream_gene_variant,,ENST00000350250,;PKD2L2,upstream_gene_variant,,ENST00000511176,;RP11-381K20.2,intron_variant,,ENST00000508281,;RP11-381K20.2,intron_variant,,ENST00000514616,;MYOT,downstream_gene_variant,,ENST00000509812,;MYOT,non_coding_transcript_exon_variant,,ENST00000508938,;PKD2L2,upstream_gene_variant,,ENST00000414094,;MYOT,downstream_gene_variant,,ENST00000503748,;MYOT,downstream_gene_variant,,ENST00000511254,;							LOW	1461/1497		MYOTI_HUMAN			Transcript			.	ENSP00000239926		CCDS4194.1			1	
CFHR5	0	LGGM	GRCh37	1	196946767	196946767	+	5_prime_UTR_variant	5'UTR	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	274	10	.	.	ENST00000256785.4:c.-28T>A		*10*	ENST00000256785				0	1	1	UPI0000043814	0		ENST00000256785		ENSG00000134389	24668		284			HGNC	p.F15L		CFHR5		SNV			1				ENST00000367414	protein_coding							A		82/2810							YES	CFHR5,missense_variant,p.Phe15Leu,ENST00000367414,NM_030787.3;CFHR5,5_prime_UTR_variant,,ENST00000256785,;							MODIFIER	-/1710		FHR5_HUMAN			Transcript			.	ENSP00000256785		CCDS1387.1			1	
EPHB4	0	LGGM	GRCh37	7	100421372	100421372	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	10	11	.	.	ENST00000358173.3:c.305G>A	p.Arg102Gln	p.R102Q	ENST00000358173	NM_004444.4	102	cGg/cAg	0	1	1	UPI0000000DBB	0	getma.org/pdb.php?prot=EPHB4_HUMAN&from=17&to=197&var=R102Q	ENST00000358173		ENSG00000196411	3395	8.69E-05	21	1.15		HGNC	p.R102Q	rs776550311	EPHB4		SNV							ENST00000358173	protein_coding	getma.org/?cm=var&var=hg19,7,100421372,C,T&fts=all		PROSITE_profiles:PS51550,hmmpanther:PTHR24416:SF296,hmmpanther:PTHR24416,Gene3D:2.60.120.260,Pfam_domain:PF01404,SMART_domains:SM00615,PIRSF_domain:PIRSF000666,Superfamily_domains:SSF49785		R/Q		T	low	774/4329	4.60E-05	getma.org/?cm=msa&ty=f&p=EPHB4_HUMAN&rb=17&re=197&var=R102Q	tolerated(0.07)	Q541P7_HUMAN			YES	EPHB4,missense_variant,p.Arg102Gln,ENST00000358173,NM_004444.4;EPHB4,missense_variant,p.Arg102Gln,ENST00000360620,;RN7SL750P,upstream_gene_variant,,ENST00000582814,;EPHB4,non_coding_transcript_exon_variant,,ENST00000477446,;EPHB4,non_coding_transcript_exon_variant,,ENST00000489808,;SLC12A9,upstream_gene_variant,,ENST00000461016,;EPHB4,non_coding_transcript_exon_variant,,ENST00000487222,;EPHB4,upstream_gene_variant,,ENST00000492878,;							MODERATE	305/2964	R102Q	EPHB4_HUMAN			Transcript		benign(0.012)	.	ENSP00000350896	3.30E-05	CCDS5706.1			1	
MCTP1	0	LGGM	GRCh37	5	94208927	94208927	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	23	11	.	.	ENST00000515393.1:c.1953T>A	p.Cys651Ter	p.C651*	ENST00000515393	NM_024717.4	651	tgT/tgA	0	1	1	UPI0000D6165C	0	NA	ENST00000515393		ENSG00000175471	26183		34	0		HGNC	p.C384X		MCTP1		SNV							ENST00000429576	protein_coding	getma.org/?cm=var&var=hg19,5,94208927,A,T&fts=all		Superfamily_domains:SSF49562,SMART_domains:SM00239,Gene3D:2.60.40.150,Pfam_domain:PF00168,hmmpanther:PTHR16122:SF19,hmmpanther:PTHR16122,PROSITE_profiles:PS50004		C/*		T	NA	1953/5396		NA		E5RJR1_HUMAN			YES	MCTP1,stop_gained,p.Cys651Ter,ENST00000515393,NM_024717.4;MCTP1,stop_gained,p.Cys384Ter,ENST00000429576,;MCTP1,stop_gained,p.Cys167Ter,ENST00000505078,;MCTP1,stop_gained,p.Cys252Ter,ENST00000506568,;MCTP1,stop_gained,p.Cys430Ter,ENST00000312216,NM_001002796.2;MCTP1,stop_gained,p.Cys371Ter,ENST00000508509,;MCTP1,stop_gained,p.Cys430Ter,ENST00000505208,;MCTP1,stop_gained,p.Cys312Ter,ENST00000512425,;							HIGH	1953/3000	C651*	MCTP1_HUMAN			Transcript			.	ENSP00000424126		CCDS34203.1			1	
PCCB	0	LGGM	GRCh37	3	136046061	136046061	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	16	11	.	.	ENST00000469217.1:c.1323G>A	p.Glu441=	p.E441=	ENST00000469217	NM_001178014.1	441	gaG/gaA	0	1		UPI000006FE6C	0		ENST00000251654		ENSG00000114054	8654		27			HGNC	p.E421E		PCCB		SNV			1				ENST00000251654	protein_coding			Superfamily_domains:SSF52096,Gene3D:3.90.226.10,Pfam_domain:PF01039,hmmpanther:PTHR22855:SF14,hmmpanther:PTHR22855,PROSITE_profiles:PS50989		E		A		1333/1833				Q8WVH4_HUMAN,C9JVW9_HUMAN,C9JAW3_HUMAN				PCCB,synonymous_variant,p.=,ENST00000471595,;PCCB,synonymous_variant,p.=,ENST00000468777,;PCCB,synonymous_variant,p.=,ENST00000466072,;PCCB,synonymous_variant,p.=,ENST00000469217,NM_001178014.1;PCCB,synonymous_variant,p.=,ENST00000251654,NM_000532.4;PCCB,synonymous_variant,p.=,ENST00000483687,;PCCB,synonymous_variant,p.=,ENST00000462637,;PCCB,synonymous_variant,p.=,ENST00000490504,;PCCB,synonymous_variant,p.=,ENST00000482086,;PCCB,intron_variant,,ENST00000478469,;PCCB,intron_variant,,ENST00000474833,;PCCB,non_coding_transcript_exon_variant,,ENST00000473073,;PCCB,intron_variant,,ENST00000484181,;PCCB,downstream_gene_variant,,ENST00000475214,;							LOW	1263/1620		PCCB_HUMAN			Transcript			.	ENSP00000251654		CCDS3089.1			1	
KCNJ1	0	LGGM	GRCh37	11	128709700	128709700	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	47	12	.	.	ENST00000392664.2:c.496C>A	p.Leu166Ile	p.L166I	ENST00000392664	NM_000220.4	166	Ctt/Att	0	1	1	UPI000012D891	0	getma.org/pdb.php?prot=IRK1_HUMAN&from=43&to=380&var=L166I	ENST00000392664		ENSG00000151704	6255		59	0.355		HGNC	p.L147I		KCNJ1		SNV			1				ENST00000440599	protein_coding	getma.org/?cm=var&var=hg19,11,128709700,G,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR11767,hmmpanther:PTHR11767:SF6,Gene3D:1.10.287.70,Pfam_domain:PF01007,PIRSF_domain:PIRSF005465,Superfamily_domains:SSF81324		L/I		T	neutral	613/1674		getma.org/?cm=msa&ty=f&p=IRK1_HUMAN&rb=43&re=380&var=L166I	tolerated(0.93)				YES	KCNJ1,missense_variant,p.Leu147Ile,ENST00000392665,NM_153764.2;KCNJ1,missense_variant,p.Leu147Ile,ENST00000392666,NM_153766.2;KCNJ1,missense_variant,p.Leu147Ile,ENST00000324036,NM_153767.3;KCNJ1,missense_variant,p.Leu147Ile,ENST00000440599,NM_153765.2;KCNJ1,missense_variant,p.Leu166Ile,ENST00000392664,NM_000220.4;KCNJ1,downstream_gene_variant,,ENST00000324003,;KCNJ1,downstream_gene_variant,,ENST00000531562,;							MODERATE	496/1176	L166I	IRK1_HUMAN			Transcript		benign(0.041)	.	ENSP00000376432		CCDS8476.1			1	
GBGT1	0	LGGM	GRCh37	9	136029258	136029258	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	42	12	.	.	ENST00000372040.3:c.750T>A	p.Phe250Leu	p.F250L	ENST00000372040		250	ttT/ttA	0	1	1	UPI000013DB02	0	getma.org/pdb.php?prot=GBGT1_HUMAN&from=11&to=347&var=F250L	ENST00000372040		ENSG00000148288	20460		54	2.69		HGNC	p.L244X		GBGT1		SNV							ENST00000372043	protein_coding	getma.org/?cm=var&var=hg19,9,136029258,A,T&fts=all		hmmpanther:PTHR10462:SF29,hmmpanther:PTHR10462,Gene3D:3.90.550.10,Pfam_domain:PF03414,Superfamily_domains:SSF53448		F/L		T	medium	1062/1980		getma.org/?cm=msa&ty=f&p=GBGT1_HUMAN&rb=11&re=347&var=F250L	tolerated(0.1)	J7Q0Z1_HUMAN,J7PW20_HUMAN			YES	GBGT1,stop_gained,p.Leu244Ter,ENST00000372043,NM_021996.4,NM_001282629.1;GBGT1,missense_variant,p.Phe250Leu,ENST00000372040,;GBGT1,missense_variant,p.Phe233Leu,ENST00000540636,NM_001282632.1;RALGDS,intron_variant,,ENST00000542690,;RALGDS,upstream_gene_variant,,ENST00000393160,NM_001042368.2;GBGT1,downstream_gene_variant,,ENST00000372038,;GBGT1,non_coding_transcript_exon_variant,,ENST00000472281,;GBGT1,non_coding_transcript_exon_variant,,ENST00000470431,;							MODERATE	750/1044	F250L	GBGT1_HUMAN			Transcript		benign(0.316)	.	ENSP00000361110		CCDS6960.1			1	
SIGLEC1	0	LGGM	GRCh37	20	3683882	3683882	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	19	12	.	.	ENST00000344754.4:c.1190G>T	p.Gly397Val	p.G397V	ENST00000344754	NM_023068.3	397	gGc/gTc	0	1	1	UPI0000049BA6	0	NA	ENST00000344754		ENSG00000088827	11127		31	4.3		HGNC	p.G397V		SIGLEC1		SNV							ENST00000344754	protein_coding	getma.org/?cm=var&var=hg19,20,3683882,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF46,Pfam_domain:PF13895,Gene3D:2.60.40.10,SMART_domains:SM00409,SMART_domains:SM00408		G/V		A	high	1190/6720		getma.org/?cm=msa&ty=f&p=SN_HUMAN&rb=327&re=408&var=G397V	deleterious(0)				YES	SIGLEC1,missense_variant,p.Gly397Val,ENST00000344754,NM_023068.3;SIGLEC1,missense_variant,p.Gly397Val,ENST00000202578,;							MODERATE	1190/5130	G397V	SN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000341141		CCDS13060.1			1	
TRIB2	0	LGGM	GRCh37	2	12880833	12880833	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	19	12	.	.	ENST00000155926.4:c.945G>A	p.Ser315=	p.S315=	ENST00000155926	NM_021643.3	315	tcG/tcA	0	1	1	UPI0000051C55	0		ENST00000155926		ENSG00000071575	30809	8.64E-05	31			HGNC	p.S315S	rs369596172,COSM170790	TRIB2	0.000242	SNV	A:0					0,1	ENST00000155926	protein_coding		A:0	hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF11		S	A:0.0001	A		2364/4391	4.50E-05			F8WA18_HUMAN	A:0	A:0	YES	TRIB2,synonymous_variant,p.=,ENST00000155926,NM_021643.3;TRIB2,synonymous_variant,p.=,ENST00000381465,;MIR3125,downstream_gene_variant,,ENST00000579927,;		A:0.0002			0,1		LOW	945/1032		TRIB2_HUMAN		A:0	Transcript			.	ENSP00000155926	6.59E-05	CCDS1683.1		A:0.001	1	
KRT25	0	LGGM	GRCh37	17	38904630	38904630	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	17	12	.	.	ENST00000312150.4:c.1252A>T	p.Lys418Ter	p.K418*	ENST00000312150	NM_181534.3	418	Aaa/Taa	0	1	1	UPI000019B3C3	0	NA	ENST00000312150		ENSG00000204897	30839		29	0		HGNC	p.K418X		KRT25		SNV							ENST00000312150	protein_coding	getma.org/?cm=var&var=hg19,17,38904630,T,A&fts=all		hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF160		K/*		A	NA	1313/1670		NA					YES	KRT25,stop_gained,p.Lys418Ter,ENST00000312150,NM_181534.3;							HIGH	1252/1353	K418*	K1C25_HUMAN			Transcript			.	ENSP00000310573		CCDS11373.1			1	
PCLO	0	LGGM	GRCh37	7	82579235	82579235	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	163	12	.	.	ENST00000333891.9:c.10669G>A	p.Glu3557Lys	p.E3557K	ENST00000333891	NM_033026.5	3557	Gaa/Aaa	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		175	2.16		HGNC	p.E277K	rs370477999	PCLO		SNV	T:0		1				ENST00000437081	protein_coding	getma.org/?cm=var&var=hg19,7,82579235,C,T&fts=all		hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		E/K	T:0.0001	T	medium	11007/20329	1.50E-05	getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=E3488K					YES	PCLO,missense_variant,p.Glu3557Lys,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Glu3557Lys,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Glu277Lys,ENST00000437081,;							MODERATE	10669/15429	E3488K	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319	8.27E-06	CCDS47630.1			1	
OR9G4	0	LGGM	GRCh37	11	56510358	56510358	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	51	12	.	.	ENST00000302957.3:c.930A>G	p.Lys310=	p.K310=	ENST00000302957	NM_001005284.1	310	aaA/aaG	0	1	1	UPI00001D77DB	0		ENST00000302957		ENSG00000172457	15322		63			HGNC	p.K310K		OR9G4		SNV							ENST00000302957	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF141,Superfamily_domains:SSF81321		K		C		930/985							YES	OR9G4,synonymous_variant,p.=,ENST00000302957,NM_001005284.1;OR9G3P,downstream_gene_variant,,ENST00000525553,;OR9G3P,downstream_gene_variant,,ENST00000327003,;							LOW	930/984		OR9G4_HUMAN			Transcript			.	ENSP00000307515		CCDS31537.1			1	
DSEL	0	LGGM	GRCh37	18	65181335	65181335	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	31	12	.	.	ENST00000310045.7:c.541G>C	p.Gly181Arg	p.G181R	ENST00000310045	NM_032160.2	181	Ggc/Cgc	0	1	1	UPI00000740A1	0	NA	ENST00000310045		ENSG00000171451	18144		43	1.87		HGNC	p.G181R		DSEL		SNV							ENST00000310045	protein_coding	getma.org/?cm=var&var=hg19,18,65181335,C,G&fts=all		hmmpanther:PTHR15532,hmmpanther:PTHR15532:SF2		G/R		G	low	2015/9531		getma.org/?cm=msa&ty=f&p=DSEL_HUMAN&rb=1&re=200&var=G171R	deleterious(0)				YES	DSEL,missense_variant,p.Gly181Arg,ENST00000310045,NM_032160.2;RP11-638L3.1,upstream_gene_variant,,ENST00000583687,;CTD-2541J13.2,downstream_gene_variant,,ENST00000583493,;CTD-2541J13.2,downstream_gene_variant,,ENST00000581951,;							MODERATE	541/3669	G171R	DSEL_HUMAN			Transcript		probably_damaging(0.963)	.	ENSP00000310565		CCDS11995.1			1	
TMPRSS9	0	LGGM	GRCh37	19	2405485	2405485	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	16	12	.	.	ENST00000332578.3:c.682T>C	p.Cys228Arg	p.C228R	ENST00000332578	NM_182973.1	228	Tgt/Cgt	0	1	1	UPI00001B4EC6	0	getma.org/pdb.php?prot=TMPS9_HUMAN&from=203&to=431&var=C228R	ENST00000332578		ENSG00000178297	30079		28	3.815		HGNC	p.C228R		TMPRSS9		SNV							ENST00000332578	protein_coding	getma.org/?cm=var&var=hg19,19,2405485,T,C&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24256,hmmpanther:PTHR24256:SF108,Pfam_domain:PF00089,Gene3D:2.40.10.10,SMART_domains:SM00020,PIRSF_domain:PIRSF037931,Superfamily_domains:SSF50494		C/R		C	high	682/3331		getma.org/?cm=msa&ty=f&p=TMPS9_HUMAN&rb=203&re=431&var=C228R	deleterious(0)				YES	TMPRSS9,missense_variant,p.Cys228Arg,ENST00000332578,NM_182973.1;TMPRSS9,non_coding_transcript_exon_variant,,ENST00000395264,;							MODERATE	682/3180	C228R	TMPS9_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000330264		CCDS12088.1			1	
DUOX2	0	LGGM	GRCh37	15	45392362	45392362	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	12	13	.	.	ENST00000603300.1:c.3070C>T	p.Leu1024=	p.L1024=	ENST00000603300	NM_014080.4	1024	Cta/Tta	0	1	1	UPI000013D775	0		ENST00000603300		ENSG00000140279	13273		25			HGNC	p.L1024L		DUOX2		SNV			1				ENST00000389039	protein_coding			hmmpanther:PTHR11972,hmmpanther:PTHR11972:SF53		L		A		3273/6345				S6B490_HUMAN			YES	DUOX2,synonymous_variant,p.=,ENST00000389039,;DUOX2,synonymous_variant,p.=,ENST00000603300,NM_014080.4;DUOX2,non_coding_transcript_exon_variant,,ENST00000558383,;DUOX2,non_coding_transcript_exon_variant,,ENST00000560797,;DUOX2,downstream_gene_variant,,ENST00000558416,;							LOW	3070/4647		DUOX2_HUMAN			Transcript			.	ENSP00000475084		CCDS10117.1			1	
CCDC178	0	LGGM	GRCh37	18	30803115	30803115	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	29	13	.	.	ENST00000383096.3:c.1887A>T	p.Leu629Phe	p.L629F	ENST00000383096		629	ttA/ttT	0	1	1	UPI000022A700	0	NA	ENST00000383096		ENSG00000166960	29588		42	1.385		HGNC	p.L629F		CCDC178		SNV							ENST00000406524	protein_coding	getma.org/?cm=var&var=hg19,18,30803115,T,A&fts=all		Low_complexity_(Seg):seg		L/F		A	low	2070/3391		getma.org/?cm=msa&ty=f&p=CR034_HUMAN&rb=1&re=865&var=L629F	deleterious(0)	J3QKU2_HUMAN			YES	CCDC178,missense_variant,p.Leu629Phe,ENST00000383096,;CCDC178,missense_variant,p.Leu629Phe,ENST00000403303,NM_001105528.1;CCDC178,missense_variant,p.Leu629Phe,ENST00000583930,;CCDC178,missense_variant,p.Leu629Phe,ENST00000406524,;CCDC178,missense_variant,p.Leu629Phe,ENST00000579947,;CCDC178,missense_variant,p.Leu629Phe,ENST00000402325,;CCDC178,missense_variant,p.Leu176Phe,ENST00000581524,;CCDC178,intron_variant,,ENST00000300227,NM_198995.2;CCDC178,intron_variant,,ENST00000579916,;							MODERATE	1887/2604	L629F	CC178_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000372576		CCDS42424.1			1	
DOCK5	0	LGGM	GRCh37	8	25154086	25154086	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	21	13	.	.	ENST00000276440.7:c.528C>G	p.Asp176Glu	p.D176E	ENST00000276440	NM_024940.6	176	gaC/gaG	0	1	1	UPI000022D4F3	0	NA	ENST00000276440		ENSG00000147459	23476		34	0.525		HGNC	p.D176E		DOCK5		SNV							ENST00000481100	protein_coding	getma.org/?cm=var&var=hg19,8,25154086,C,G&fts=all		hmmpanther:PTHR23317,hmmpanther:PTHR23317:SF68		D/E		G	neutral	572/10075		getma.org/?cm=msa&ty=f&p=DOCK5_HUMAN&rb=62&re=261&var=D176E	tolerated(0.61)				YES	DOCK5,missense_variant,p.Asp176Glu,ENST00000276440,NM_024940.6;DOCK5,missense_variant,p.Asp176Glu,ENST00000481100,;DOCK5,upstream_gene_variant,,ENST00000444569,;DOCK5,upstream_gene_variant,,ENST00000495236,;							MODERATE	528/5613	D176E	DOCK5_HUMAN			Transcript		benign(0.083)	.	ENSP00000276440		CCDS6047.1			1	
MUC16	0	LGGM	GRCh37	19	8987268	8987268	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	30	13	.	.	ENST00000397910.4:c.41819A>T	p.Asp13940Val	p.D13940V	ENST00000397910	NM_024690.2	13940	gAc/gTc	0	1	1	UPI000065CA24	0	getma.org/pdb.php?prot=MUC16_HUMAN&from=13946&to=14056&var=D13965V	ENST00000397910		ENSG00000181143	15582		43	2.115		HGNC	p.D581V		MUC16		SNV							ENST00000380951	protein_coding	getma.org/?cm=var&var=hg19,19,8987268,T,A&fts=all		Superfamily_domains:0047452,Gene3D:1ivzA00,Pfam_domain:PF01390,PROSITE_profiles:PS50024,hmmpanther:PTHR14672,hmmpanther:PTHR14672:SF0		D/V		A	medium	42023/43816		getma.org/?cm=msa&ty=f&p=MUC16_HUMAN&rb=13946&re=14056&var=D13965V		F8WE81_HUMAN,B5ME49_HUMAN			YES	MUC16,missense_variant,p.Asp13940Val,ENST00000397910,NM_024690.2;MUC16,missense_variant,p.Asp780Val,ENST00000599436,;MUC16,missense_variant,p.Asp581Val,ENST00000380951,;MUC16,missense_variant,p.Asp758Val,ENST00000601404,;MUC16,missense_variant,p.Asp560Val,ENST00000596768,;							MODERATE	41819/43524	D13965V				Transcript		probably_damaging(0.984)	.	ENSP00000381008		CCDS54212.1			1	
EDRF1	0	LGGM	GRCh37	10	127409792	127409792	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	50	13	.	.	ENST00000356792.4:c.128G>C	p.Gly43Ala	p.G43A	ENST00000356792	NM_001202438.1	43	gGa/gCa	0	1	1	UPI00005CA2E3	0	NA	ENST00000356792		ENSG00000107938	24640		63	1.04		HGNC	p.G43A		EDRF1		SNV							ENST00000481600	protein_coding	getma.org/?cm=var&var=hg19,10,127409792,G,C&fts=all		hmmpanther:PTHR15000:SF1,hmmpanther:PTHR15000		G/A		C	low	360/4128		getma.org/?cm=msa&ty=f&p=EDRF1_HUMAN&rb=1&re=1231&var=G43A	tolerated_low_confidence(0.06)				YES	EDRF1,missense_variant,p.Gly43Ala,ENST00000337623,NM_015608.2;EDRF1,missense_variant,p.Gly43Ala,ENST00000356792,NM_001202438.1;RP11-383C5.4,upstream_gene_variant,,ENST00000423178,;RP11-383C5.4,upstream_gene_variant,,ENST00000527483,;RP11-383C5.4,upstream_gene_variant,,ENST00000528844,;RP11-383C5.4,upstream_gene_variant,,ENST00000531977,;RP11-383C5.4,upstream_gene_variant,,ENST00000525909,;RP11-383C5.5,upstream_gene_variant,,ENST00000430970,;EDRF1,missense_variant,p.Gly43Ala,ENST00000419769,;EDRF1,missense_variant,p.Gly43Ala,ENST00000481600,;EDRF1,missense_variant,p.Gly43Ala,ENST00000368815,;EDRF1,non_coding_transcript_exon_variant,,ENST00000525091,;EDRF1,upstream_gene_variant,,ENST00000530795,;							MODERATE	128/3717	G43A	EDRF1_HUMAN			Transcript		benign(0.368)	.	ENSP00000349244		CCDS55733.1			1	
RPL29	0	LGGM	GRCh37	3	52028028	52028028	+	stop_gained	Nonsense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	15	14	.	.	ENST00000466397.1:c.217A>T	p.Lys73Ter	p.K73*	ENST00000466397		73	Aag/Tag	0	1		UPI0000167B81	0	NA	ENST00000294189		ENSG00000162244	10331		29	0		HGNC	p.K73X		RPL29		SNV							ENST00000294189	protein_coding	getma.org/?cm=var&var=hg19,3,52028028,T,A&fts=all		hmmpanther:PTHR12884		K/*		A	NA	311/723		NA		Q6IPI1_HUMAN				RPL29,stop_gained,p.Lys73Ter,ENST00000466397,;RPL29,stop_gained,p.Lys73Ter,ENST00000294189,NM_000992.2;RPL29,stop_gained,p.Lys73Ter,ENST00000495383,;RPL29,stop_gained,p.Lys73Ter,ENST00000479017,;RPL29,stop_gained,p.Lys73Ter,ENST00000475248,;RPL29,stop_gained,p.Lys73Ter,ENST00000492277,;ACY1,downstream_gene_variant,,ENST00000458031,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463937,;ACY1,downstream_gene_variant,,ENST00000404366,NM_000666.2,NM_001198895.1;ACY1,downstream_gene_variant,,ENST00000476351,NM_001198898.1;ACY1,downstream_gene_variant,,ENST00000476854,NM_001198897.1;ACY1,downstream_gene_variant,,ENST00000494103,NM_001198896.1;RPL29,downstream_gene_variant,,ENST00000481629,;RPL29,3_prime_UTR_variant,,ENST00000480306,;ABHD14A-ACY1,downstream_gene_variant,,ENST00000463721,;ACY1,downstream_gene_variant,,ENST00000491318,;RPL29,downstream_gene_variant,,ENST00000486565,;							HIGH	217/480	K73*	RL29_HUMAN			Transcript			.	ENSP00000294189		CCDS2845.1			1	
TUBA3C	0	LGGM	GRCh37	13	19751305	19751305	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	50	15	.	.	ENST00000400113.3:c.818C>A	p.Ala273Asp	p.A273D	ENST00000400113	NM_006001.2	273	gCc/gAc	0	1	1	UPI0000027DB1	0		ENST00000400113		ENSG00000198033	12408		65			HGNC	p.A273D		TUBA3C		SNV							ENST00000400113	protein_coding			hmmpanther:PTHR11588,hmmpanther:PTHR11588:SF65,Pfam_domain:PF03953,Gene3D:3.30.1330.20,SMART_domains:SM00865,Superfamily_domains:SSF55307		A/D		T		923/1551			deleterious_low_confidence(0)	Q1ZYQ1_HUMAN,F8VXZ7_HUMAN			YES	TUBA3C,missense_variant,p.Ala273Asp,ENST00000400113,NM_006001.2;RP11-408E5.4,upstream_gene_variant,,ENST00000382988,;							MODERATE	818/1353		TBA3C_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382982		CCDS9284.1			1	
GTDC1	0	LGGM	GRCh37	2	144765051	144765051	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	35	15	.	.	ENST00000392869.2:c.573A>G	p.Lys191=	p.K191=	ENST00000392869	NM_001284234.1	191	aaA/aaG	0	1		UPI000022BC3B	0		ENST00000344850		ENSG00000121964	20887		50			HGNC	p.K191K		GTDC1		SNV							ENST00000542155	protein_coding			hmmpanther:PTHR13615,hmmpanther:PTHR13615:SF1,Low_complexity_(Seg):seg		K		C		767/2607				G5EA49_HUMAN,G1UFN1_HUMAN,C9JIH3_HUMAN,C9J2C5_HUMAN				GTDC1,synonymous_variant,p.=,ENST00000392869,NM_001284234.1;GTDC1,synonymous_variant,p.=,ENST00000409214,NM_001006636.3,NM_001284234.1;GTDC1,synonymous_variant,p.=,ENST00000542155,NM_001164629.2;GTDC1,synonymous_variant,p.=,ENST00000344850,;GTDC1,synonymous_variant,p.=,ENST00000392867,NM_024659.4;GTDC1,synonymous_variant,p.=,ENST00000241391,;GTDC1,synonymous_variant,p.=,ENST00000463875,;GTDC1,intron_variant,,ENST00000409298,;GTDC1,non_coding_transcript_exon_variant,,ENST00000476958,;GTDC1,synonymous_variant,p.=,ENST00000392871,NM_001284233.1;GTDC1,3_prime_UTR_variant,,ENST00000415569,NM_001284238.1;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,;							LOW	573/1377		GTDC1_HUMAN			Transcript			.	ENSP00000339750		CCDS33300.1			1	
CCNJ	0	LGGM	GRCh37	10	97816509	97816509	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	43	16	.	.	ENST00000465148.2:c.332G>A	p.Ser111Asn	p.S111N	ENST00000465148		111	aGc/aAc	0	1		UPI000000DA20	0	getma.org/pdb.php?prot=CCNJ_HUMAN&from=15&to=143&var=S111N	ENST00000265992		ENSG00000107443	23434		59	1.1		HGNC	p.S111N		CCNJ		SNV							ENST00000265992	protein_coding	getma.org/?cm=var&var=hg19,10,97816509,G,A&fts=all		Gene3D:1.10.472.10,Pfam_domain:PF00134,hmmpanther:PTHR10177,hmmpanther:PTHR10177:SF62,SMART_domains:SM00385,Superfamily_domains:SSF47954		S/N		A	low	699/4115		getma.org/?cm=msa&ty=f&p=CCNJ_HUMAN&rb=15&re=143&var=S111N	tolerated(0.43)					CCNJ,missense_variant,p.Ser111Asn,ENST00000265992,NM_019084.4,NM_001134376.1,NM_001134375.1;CCNJ,missense_variant,p.Ser111Asn,ENST00000534974,;CCNJ,missense_variant,p.Ser111Asn,ENST00000403870,;CCNJ,missense_variant,p.Ser111Asn,ENST00000465148,;ENTPD1-AS1,intron_variant,,ENST00000416301,;ENTPD1-AS1,intron_variant,,ENST00000458228,;ENTPD1-AS1,intron_variant,,ENST00000454638,;ENTPD1-AS1,intron_variant,,ENST00000452728,;ENTPD1-AS1,intron_variant,,ENST00000427846,;ENTPD1-AS1,intron_variant,,ENST00000451364,;							MODERATE	332/1119	S111N	CCNJ_HUMAN			Transcript		benign(0.015)	.	ENSP00000265992		CCDS7445.1			1	
GPR126	0	LGGM	GRCh37	6	142718849	142718849	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	92	16	.	.	ENST00000367609.3:c.1524G>A	p.Leu508=	p.L508=	ENST00000367609	NM_198569.2	508	ttG/ttA	0	1		UPI000046FFCF	0		ENST00000230173		ENSG00000112414	13841		108			HGNC	p.L508L	rs775081074	GPR126		SNV			1				ENST00000230173	protein_coding			hmmpanther:PTHR12011:SF47,hmmpanther:PTHR12011		L		A		2000/7026				F5H2L1_HUMAN				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,synonymous_variant,p.=,ENST00000508295,;	0.000132						LOW	1524/3666		GP126_HUMAN			Transcript			.	ENSP00000230173	8.28E-06	CCDS47490.1			1	
PIKFYVE	0	LGGM	GRCh37	2	209198075	209198075	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	24	16	.	.	ENST00000264380.4:c.4000T>C	p.Ser1334Pro	p.S1334P	ENST00000264380	NM_015040.3	1334	Tct/Cct	0	1	1	UPI0000366FD6	0	NA	ENST00000264380		ENSG00000115020	23785		40	1.955		HGNC	p.S1278P		PIKFYVE		SNV			1				ENST00000452564	protein_coding	getma.org/?cm=var&var=hg19,2,209198075,T,C&fts=all		hmmpanther:PTHR11353:SF57,hmmpanther:PTHR11353		S/P		C	medium	4158/9901		getma.org/?cm=msa&ty=f&p=FYV1_HUMAN&rb=1268&re=1467&var=S1334P	deleterious(0.01)				YES	PIKFYVE,missense_variant,p.Ser1334Pro,ENST00000264380,NM_015040.3;PIKFYVE,missense_variant,p.Ser1278Pro,ENST00000452564,;PIKFYVE,upstream_gene_variant,,ENST00000474721,;							MODERATE	4000/6297	S1334P	FYV1_HUMAN			Transcript		probably_damaging(0.934)	.	ENSP00000264380		CCDS2382.1			1	
TBC1D23	0	LGGM	GRCh37	3	100030718	100030718	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	64	17	.	.	ENST00000394144.4:c.1595A>T	p.Glu532Val	p.E532V	ENST00000394144	NM_001199198.2	532	gAg/gTg	0	1	1	UPI000013D5E5	0	NA	ENST00000394144		ENSG00000036054	25622		81	1.385		HGNC	p.E532V		TBC1D23		SNV							ENST00000394144	protein_coding	getma.org/?cm=var&var=hg19,3,100030718,A,T&fts=all		hmmpanther:PTHR13297		E/V		T	low	1602/3677		getma.org/?cm=msa&ty=f&p=TBC23_HUMAN&rb=441&re=640&var=E532V	deleterious(0.01)	B3KS68_HUMAN			YES	TBC1D23,missense_variant,p.Glu532Val,ENST00000394144,NM_001199198.2;TBC1D23,missense_variant,p.Glu395Val,ENST00000475134,;TBC1D23,intron_variant,,ENST00000344949,NM_018309.4;TBC1D23,intron_variant,,ENST00000486274,;TBC1D23,upstream_gene_variant,,ENST00000471273,;TBC1D23,downstream_gene_variant,,ENST00000496167,;							MODERATE	1595/2100	E532V	TBC23_HUMAN			Transcript		benign(0.016)	.	ENSP00000377700		CCDS56265.1			1	
CD1A	0	LGGM	GRCh37	1	158225853	158225853	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	149	17	.	.	ENST00000289429.5:c.385A>T	p.Ser129Cys	p.S129C	ENST00000289429	NM_001763.2	129	Agc/Tgc	0	1	1	UPI0000161A54	0	getma.org/pdb.php?prot=CD1A_HUMAN&from=23&to=198&var=S129C	ENST00000289429		ENSG00000158477	1634		166	1.79		HGNC	p.S129C		CD1A		SNV							ENST00000289429	protein_coding	getma.org/?cm=var&var=hg19,1,158225853,A,T&fts=all		Gene3D:3.30.500.10,Pfam_domain:PF00129,hmmpanther:PTHR16675,hmmpanther:PTHR16675:SF160,Superfamily_domains:SSF54452		S/C		T	low	918/2096		getma.org/?cm=msa&ty=f&p=CD1A_HUMAN&rb=23&re=198&var=S129C	tolerated(0.09)				YES	CD1A,missense_variant,p.Ser129Cys,ENST00000289429,NM_001763.2;							MODERATE	385/984	S129C	CD1A_HUMAN			Transcript		benign(0.014)	.	ENSP00000289429		CCDS1174.1			1	
ARHGEF12	0	LGGM	GRCh37	11	120351981	120351981	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	24	17	.	.	ENST00000397843.2:c.4250T>G	p.Ile1417Ser	p.I1417S	ENST00000397843	NM_015313.2	1417	aTc/aGc	0	1	1	UPI00000708ED	0	NA	ENST00000397843		ENSG00000196914	14193		41	1.04		HGNC	p.I1314S		ARHGEF12		SNV							ENST00000532993	protein_coding	getma.org/?cm=var&var=hg19,11,120351981,T,G&fts=all		hmmpanther:PTHR22825,hmmpanther:PTHR22825:SF8		I/S		G	low	4416/9660		getma.org/?cm=msa&ty=f&p=ARHGC_HUMAN&rb=1377&re=1544&var=I1417S	deleterious_low_confidence(0.02)	E9PMR6_HUMAN			YES	ARHGEF12,missense_variant,p.Ile1417Ser,ENST00000397843,NM_015313.2;ARHGEF12,missense_variant,p.Ile1398Ser,ENST00000356641,NM_001198665.1;ARHGEF12,missense_variant,p.Ile1314Ser,ENST00000532993,;ARHGEF12,downstream_gene_variant,,ENST00000529970,;ARHGEF12,downstream_gene_variant,,ENST00000526067,;ARHGEF12,downstream_gene_variant,,ENST00000528681,;							MODERATE	4250/4635	I1417S	ARHGC_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000380942		CCDS41727.1			1	
FAM129A	0	LGGM	GRCh37	1	184853879	184853879	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	33	17	.	.	ENST00000367511.3:c.489A>T	p.Pro163=	p.P163=	ENST00000367511	NM_052966.3	163	ccA/ccT	0	1	1	UPI00000375B3	0		ENST00000367511		ENSG00000135842	16784		50			HGNC	p.P163P		FAM129A		SNV							ENST00000367511	protein_coding			hmmpanther:PTHR14392,hmmpanther:PTHR14392:SF3		P		A		683/6928							YES	FAM129A,synonymous_variant,p.=,ENST00000367511,NM_052966.3;FAM129A,downstream_gene_variant,,ENST00000496299,;							LOW	489/2787		NIBAN_HUMAN			Transcript			.	ENSP00000356481		CCDS1364.1			1	
SCGN	0	LGGM	GRCh37	6	25669766	25669766	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	34	17	.	.	ENST00000377961.2:c.364A>T	p.Ser122Cys	p.S122C	ENST00000377961	NM_006998.3	122	Agt/Tgt	0	1	1	UPI000013580E	0	getma.org/pdb.php?prot=SEGN_HUMAN&from=105&to=140&var=S122C	ENST00000377961		ENSG00000079689	16941		51	3.22		HGNC	p.S122C		SCGN		SNV							ENST00000377961	protein_coding	getma.org/?cm=var&var=hg19,6,25669766,A,T&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR19972,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,SMART_domains:SM00054,Superfamily_domains:SSF47473		S/C		T	medium	532/1447		getma.org/?cm=msa&ty=f&p=SEGN_HUMAN&rb=105&re=140&var=S122C	deleterious(0)				YES	SCGN,missense_variant,p.Ser122Cys,ENST00000377961,NM_006998.3;SCGN,3_prime_UTR_variant,,ENST00000334979,;							MODERATE	364/831	S122C	SEGN_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000367197		CCDS4561.1			1	
PCLO	0	LGGM	GRCh37	7	82763941	82763941	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	43	17	.	.	ENST00000333891.9:c.2925T>C	p.Thr975=	p.T975=	ENST00000333891	NM_033026.5	975	acT/acC	0	1	1	UPI0001573469	0		ENST00000333891		ENSG00000186472	13406		60			HGNC	p.T975T		PCLO		SNV			1				ENST00000423517	protein_coding			hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6,Low_complexity_(Seg):seg		T		G		3263/20329							YES	PCLO,synonymous_variant,p.=,ENST00000333891,NM_033026.5;PCLO,synonymous_variant,p.=,ENST00000423517,NM_014510.2;PCLO,upstream_gene_variant,,ENST00000461143,;							LOW	2925/15429		PCLO_HUMAN			Transcript			.	ENSP00000334319		CCDS47630.1			1	
DEDD	0	LGGM	GRCh37	1	161094171	161094171	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	54	18	.	.	ENST00000368006.3:c.82C>T	p.Arg28Cys	p.R28C	ENST00000368006	NM_032998.2	28	Cgc/Tgc	0	1	1	UPI0000031CE9	0	NA	ENST00000368006		ENSG00000158796	2755		72	1.32		HGNC	p.R28C	rs757983949	DEDD	6.10E-05	SNV							ENST00000535389	protein_coding	getma.org/?cm=var&var=hg19,1,161094171,G,A&fts=all		Pfam_domain:PF01335,PROSITE_profiles:PS50168,hmmpanther:PTHR15205,hmmpanther:PTHR15205:SF2,SMART_domains:SM00031,Superfamily_domains:SSF47986		R/C		A	low	297/2345	3.03E-05	getma.org/?cm=msa&ty=f&p=DEDD_HUMAN&rb=25&re=109&var=R28C	deleterious(0)				YES	DEDD,missense_variant,p.Arg28Cys,ENST00000392188,;DEDD,missense_variant,p.Arg28Cys,ENST00000368006,NM_032998.2;DEDD,missense_variant,p.Arg28Cys,ENST00000545495,NM_001039711.1;DEDD,missense_variant,p.Arg28Cys,ENST00000458050,NM_001039712.1;DEDD,missense_variant,p.Arg28Cys,ENST00000490843,;DEDD,missense_variant,p.Arg28Cys,ENST00000368005,;DEDD,missense_variant,p.Arg28Cys,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,non_coding_transcript_exon_variant,,ENST00000463227,;DEDD,non_coding_transcript_exon_variant,,ENST00000473679,;NIT1,non_coding_transcript_exon_variant,,ENST00000479728,;DEDD,intron_variant,,ENST00000489249,;DEDD,intron_variant,,ENST00000486041,;DEDD,intron_variant,,ENST00000496632,;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,;	0.000116						MODERATE	82/957	R28C	DEDD_HUMAN			Transcript		possibly_damaging(0.87)	.	ENSP00000356985	3.30E-05	CCDS1219.1			1	
XRCC4	0	LGGM	GRCh37	5	82491689	82491689	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	25	18	.	.	ENST00000511817.1:c.416C>T	p.Ala139Val	p.A139V	ENST00000511817		139	gCc/gTc	0	1		UPI000006DF4E	0	getma.org/pdb.php?prot=XRCC4_HUMAN&from=1&to=334&var=A139V	ENST00000338635		ENSG00000152422	12831		43	1.825		HGNC	p.A139V		XRCC4		SNV			1				ENST00000511817	protein_coding	getma.org/?cm=var&var=hg19,5,82491689,C,T&fts=all		Gene3D:1.20.5.370,Coiled-coils_(Ncoils):Coil,Pfam_domain:PF06632,Superfamily_domains:SSF58022		A/V		T	low	515/1579		getma.org/?cm=msa&ty=f&p=XRCC4_HUMAN&rb=1&re=334&var=A139V	tolerated(0.06)					XRCC4,missense_variant,p.Ala139Val,ENST00000282268,NM_003401.3,NM_022406.2,NM_022550.2;XRCC4,missense_variant,p.Ala139Val,ENST00000511817,;XRCC4,missense_variant,p.Ala139Val,ENST00000338635,;XRCC4,missense_variant,p.Ala139Val,ENST00000396027,;XRCC4,non_coding_transcript_exon_variant,,ENST00000509268,;XRCC4,non_coding_transcript_exon_variant,,ENST00000542685,;							MODERATE	416/1011	A139V	XRCC4_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000342011		CCDS4059.1			1	
LRP1B	0	LGGM	GRCh37	2	141135848	141135848	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	27	19	.	.	ENST00000389484.3:c.10539G>T	p.Gln3513His	p.Q3513H	ENST00000389484	NM_018557.2	3513	caG/caT	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=3513&to=3549&var=Q3513H	ENST00000389484		ENSG00000168702	6693		46	1.03		HGNC	p.Q3513H		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141135848,C,A&fts=all		Gene3D:4.10.400.10,Superfamily_domains:SSF57424		Q/H		A	low	11511/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=3513&re=3549&var=Q3513H		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			YES	LRP1B,missense_variant,p.Gln3513His,ENST00000389484,NM_018557.2;							MODERATE	10539/13800	Q3513H	LRP1B_HUMAN			Transcript		possibly_damaging(0.522)	.	ENSP00000374135		CCDS2182.1			1	
WSB2	0	LGGM	GRCh37	12	118473075	118473075	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	16	19	.	.	ENST00000315436.3:c.888G>A	p.Leu296=	p.L296=	ENST00000315436	NM_018639.4	296	ctG/ctA	0	1	1	UPI0000031565	0		ENST00000315436		ENSG00000176871	19222		35			HGNC	p.L296L		WSB2		SNV							ENST00000315436	protein_coding			PROSITE_profiles:PS50294,PROSITE_profiles:PS50082,hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		L		T		1030/2646				B4DPV6_HUMAN,B4DFS1_HUMAN			YES	WSB2,synonymous_variant,p.=,ENST00000315436,NM_018639.4;WSB2,synonymous_variant,p.=,ENST00000542304,;WSB2,synonymous_variant,p.=,ENST00000441406,NM_001278557.1;WSB2,synonymous_variant,p.=,ENST00000535496,;WSB2,synonymous_variant,p.=,ENST00000544233,NM_001278558.1;RFC5,downstream_gene_variant,,ENST00000392542,NM_181578.3;RFC5,downstream_gene_variant,,ENST00000229043,NM_001130112.2;RFC5,downstream_gene_variant,,ENST00000454402,NM_007370.5,NM_001206801.1;WSB2,downstream_gene_variant,,ENST00000537945,;RFC5,downstream_gene_variant,,ENST00000543153,;WSB2,downstream_gene_variant,,ENST00000536738,;WSB2,3_prime_UTR_variant,,ENST00000543218,;WSB2,3_prime_UTR_variant,,ENST00000543186,;WSB2,non_coding_transcript_exon_variant,,ENST00000540129,;							LOW	888/1215		WSB2_HUMAN			Transcript			.	ENSP00000319474		CCDS9186.1			1	
KCNA6	0	LGGM	GRCh37	12	4920662	4920662	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	20	19	.	.	ENST00000433855.1:c.1455T>A	p.Pro485=	p.P485=	ENST00000433855	NM_002235.3	485	ccT/ccA	0	1		UPI00001279AD	0		ENST00000280684		ENSG00000151079	6225		39			HGNC	p.P485P	COSM1322473	KCNA6		SNV						1	ENST00000433855	protein_coding			hmmpanther:PTHR11537,hmmpanther:PTHR11537:SF112,Prints_domain:PR01513		P		A		2321/4237								KCNA6,synonymous_variant,p.=,ENST00000433855,NM_002235.3;KCNA6,synonymous_variant,p.=,ENST00000280684,;GALNT8,intron_variant,,ENST00000542998,;RP11-234B24.4,upstream_gene_variant,,ENST00000542988,;GALNT8,upstream_gene_variant,,ENST00000541339,;					1		LOW	1455/1590		KCNA6_HUMAN			Transcript			.	ENSP00000280684		CCDS8534.1			1	
MCFD2	0	LGGM	GRCh37	2	47132645	47132645	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	62	19	.	.	ENST00000409105.1:c.398A>T	p.Asp133Val	p.D133V	ENST00000409105	NM_001171506.2	133	gAt/gTt	0	1		UPI000005275E	0	getma.org/pdb.php?prot=MCFD2_HUMAN&from=51&to=145&var=D133V	ENST00000319466		ENSG00000180398	18451		81	4.06		HGNC	p.D133V		MCFD2		SNV			1				ENST00000409105	protein_coding	getma.org/?cm=var&var=hg19,2,47132645,T,A&fts=all		PROSITE_profiles:PS50222,hmmpanther:PTHR23104:SF5,hmmpanther:PTHR23104,PROSITE_patterns:PS00018,Pfam_domain:PF13499,Gene3D:1.10.238.10,Superfamily_domains:SSF47473		D/V		A	high	550/4182		getma.org/?cm=msa&ty=f&p=MCFD2_HUMAN&rb=51&re=145&var=D133V	deleterious(0)	C9JTR4_HUMAN				MCFD2,missense_variant,p.Asp133Val,ENST00000409105,NM_001171506.2;MCFD2,missense_variant,p.Asp133Val,ENST00000319466,NM_139279.5,NM_001171508.2,NM_001171507.2;MCFD2,missense_variant,p.Asp114Val,ENST00000444761,NM_001171511.2;MCFD2,missense_variant,p.Asp81Val,ENST00000409913,NM_001171509.2;MCFD2,missense_variant,p.Asp81Val,ENST00000409800,NM_001171510.2;MCFD2,missense_variant,p.Asp133Val,ENST00000409207,;MCFD2,missense_variant,p.Asp133Val,ENST00000409973,;MCFD2,missense_variant,p.Asp81Val,ENST00000409147,;MCFD2,missense_variant,p.Asp133Val,ENST00000409218,;MCFD2,missense_variant,p.Asp133Val,ENST00000412438,;MCFD2,downstream_gene_variant,,ENST00000417180,;MCFD2,downstream_gene_variant,,ENST00000434262,;AC016722.4,intron_variant,,ENST00000429761,;MCFD2,non_coding_transcript_exon_variant,,ENST00000493804,;MCFD2,non_coding_transcript_exon_variant,,ENST00000470873,;MCFD2,downstream_gene_variant,,ENST00000477791,;MCFD2,downstream_gene_variant,,ENST00000487121,;MCFD2,downstream_gene_variant,,ENST00000479225,;							MODERATE	398/441	D133V	MCFD2_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000317271		CCDS33192.1			1	
YBEY	0	LGGM	GRCh37	21	47711365	47711365	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	16	20	.	.	ENST00000329319.3:c.328G>A	p.Asp110Asn	p.D110N	ENST00000329319	NM_058181.1	110	Gac/Aac	0	1	1	UPI00001C2046	0	getma.org/pdb.php?prot=YBEY_HUMAN&from=4&to=149&var=D110N	ENST00000329319		ENSG00000182362	1299		36	1.88		HGNC	p.D65N		YBEY		SNV							ENST00000397694	protein_coding	getma.org/?cm=var&var=hg19,21,47711365,G,A&fts=all		HAMAP:MF_00009,hmmpanther:PTHR22881,hmmpanther:PTHR22881:SF13,Pfam_domain:PF02130,TIGRFAM_domain:TIGR00043,Gene3D:3.40.390.30,Superfamily_domains:SSF55486		D/N		A	low	726/1019		getma.org/?cm=msa&ty=f&p=YBEY_HUMAN&rb=4&re=149&var=D110N	tolerated(0.16)				YES	YBEY,missense_variant,p.Asp110Asn,ENST00000329319,NM_058181.1;YBEY,missense_variant,p.Asp110Asn,ENST00000397691,;YBEY,missense_variant,p.Asp110Asn,ENST00000397701,;YBEY,missense_variant,p.Asp65Asn,ENST00000397694,;YBEY,intron_variant,,ENST00000339195,;YBEY,intron_variant,,ENST00000397692,;YBEY,non_coding_transcript_exon_variant,,ENST00000492864,;YBEY,non_coding_transcript_exon_variant,,ENST00000468924,;							MODERATE	328/504	D110N	YBEY_HUMAN			Transcript		benign(0.033)	.	ENSP00000329614		CCDS33591.1			1	
NAALADL2	0	LGGM	GRCh37	3	175293935	175293935	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	89	20	.	.	ENST00000454872.1:c.1760C>G	p.Pro587Arg	p.P587R	ENST00000454872	NM_207015.2	587	cCc/cGc	0	1	1	UPI0000161608	0	getma.org/pdb.php?prot=NADL2_HUMAN&from=444&to=616&var=P587R	ENST00000454872		ENSG00000177694	23219		109	3.01		HGNC	p.P587R		NAALADL2		SNV							ENST00000454872	protein_coding	getma.org/?cm=var&var=hg19,3,175293935,C,G&fts=all		hmmpanther:PTHR10404:SF32,hmmpanther:PTHR10404,Gene3D:3.40.630.10,Pfam_domain:PF04389,Superfamily_domains:SSF53187		P/R		G	medium	1888/4953		getma.org/?cm=msa&ty=f&p=NADL2_HUMAN&rb=444&re=616&var=P587R	deleterious(0)	C9JQ86_HUMAN			YES	NAALADL2,missense_variant,p.Pro587Arg,ENST00000454872,NM_207015.2;NAALADL2,non_coding_transcript_exon_variant,,ENST00000473253,;NAALADL2,non_coding_transcript_exon_variant,,ENST00000489299,;							MODERATE	1760/2388	P587R	NADL2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000404705		CCDS46960.1			1	
OR14A2	0	LGGM	GRCh37	1	247886788	247886788	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	64	21	.	.	ENST00000366485.1:c.558C>T	p.Ser186=	p.S186=	ENST00000366485		186	tcC/tcT	0	1	1	UPI000004A5E7	0		ENST00000366485		ENSG00000241128	15024		85			HGNC	p.S186S		OR14A2		SNV							ENST00000366485	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26452:SF282,hmmpanther:PTHR26452,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00245		S		A		558/945							YES	OR14A2,synonymous_variant,p.=,ENST00000366485,;RP11-634B7.5,intron_variant,,ENST00000426444,;RP11-634B7.4,intron_variant,,ENST00000449298,;RP11-634B7.5,intron_variant,,ENST00000419891,;							LOW	558/945		O14A2_HUMAN			Transcript			.	ENSP00000355441					1	
NSL1	0	LGGM	GRCh37	1	212965008	212965008	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	43	23	.	.	ENST00000366977.3:c.98G>A	p.Arg33Gln	p.R33Q	ENST00000366977	NM_015471.3	33	cGa/cAa	0	1	1	UPI000013D18F	0	NA	ENST00000366977		ENSG00000117697	24548		66	1.87		HGNC	p.R33Q		NSL1		SNV							ENST00000366975	protein_coding	getma.org/?cm=var&var=hg19,1,212965008,C,T&fts=all		hmmpanther:PTHR31749:SF2,hmmpanther:PTHR31749		R/Q		T	low	117/2317		getma.org/?cm=msa&ty=f&p=NSL1_HUMAN&rb=1&re=66&var=R33Q	tolerated(0.41)	Q53FM2_HUMAN			YES	NSL1,missense_variant,p.Arg33Gln,ENST00000366977,NM_015471.3;NSL1,missense_variant,p.Arg33Gln,ENST00000422588,NM_001042549.1;NSL1,missense_variant,p.Arg33Gln,ENST00000366975,;NSL1,missense_variant,p.Arg33Gln,ENST00000366976,;TATDN3,upstream_gene_variant,,ENST00000366974,NM_001042553.2,NM_001146171.1,NM_001146169.1,NM_001042552.2;TATDN3,upstream_gene_variant,,ENST00000366973,;TATDN3,upstream_gene_variant,,ENST00000532324,;NSL1,upstream_gene_variant,,ENST00000366978,;TATDN3,upstream_gene_variant,,ENST00000531963,;TATDN3,upstream_gene_variant,,ENST00000526641,NM_001146170.1;TATDN3,upstream_gene_variant,,ENST00000526997,;TATDN3,upstream_gene_variant,,ENST00000530399,;TATDN3,upstream_gene_variant,,ENST00000488246,;TATDN3,upstream_gene_variant,,ENST00000530441,;NSL1,non_coding_transcript_exon_variant,,ENST00000487995,;TATDN3,upstream_gene_variant,,ENST00000525569,;NSL1,upstream_gene_variant,,ENST00000473995,;TATDN3,upstream_gene_variant,,ENST00000530392,;TATDN3,upstream_gene_variant,,ENST00000497768,;TATDN3,upstream_gene_variant,,ENST00000525574,;TATDN3,upstream_gene_variant,,ENST00000532433,;TATDN3,upstream_gene_variant,,ENST00000533650,;							MODERATE	98/846	R33Q	NSL1_HUMAN			Transcript		benign(0.116)	.	ENSP00000355944		CCDS1509.1			1	
CHRNB3	0	LGGM	GRCh37	8	42587476	42587476	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	45	24	.	.	ENST00000289957.2:c.1026A>C	p.Lys342Asn	p.K342N	ENST00000289957	NM_000749.3	342	aaA/aaC	0	1	1	UPI0000125272	0	getma.org/pdb.php?prot=ACHB3_HUMAN&from=240&to=446&var=K342N	ENST00000289957		ENSG00000147432	1963		69	2.67		HGNC	p.K342N		CHRNB3		SNV							ENST00000289957	protein_coding	getma.org/?cm=var&var=hg19,8,42587476,A,C&fts=all		Superfamily_domains:SSF90112,TIGRFAM_domain:TIGR00860,Pfam_domain:PF02932,hmmpanther:PTHR18945:SF75,hmmpanther:PTHR18945		K/N		C	medium	1154/2294		getma.org/?cm=msa&ty=f&p=ACHB3_HUMAN&rb=240&re=446&var=K342N	tolerated(0.31)				YES	CHRNB3,missense_variant,p.Lys342Asn,ENST00000289957,NM_000749.3;							MODERATE	1026/1377	K342N	ACHB3_HUMAN			Transcript		possibly_damaging(0.794)	.	ENSP00000289957		CCDS6134.1			1	
SLCO5A1	0	LGGM	GRCh37	8	70585323	70585323	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	22	24	.	.	ENST00000260126.4:c.2328C>A	p.Pro776=	p.P776=	ENST00000260126	NM_030958.2	776	ccC/ccA	0	1	1	UPI0000140F53	0		ENST00000260126		ENSG00000137571	19046		46			HGNC	p.P721P		SLCO5A1		SNV							ENST00000530307	protein_coding			hmmpanther:PTHR11388,hmmpanther:PTHR11388:SF86		P		T		3035/9076							YES	SLCO5A1,synonymous_variant,p.=,ENST00000260126,NM_030958.2;SLCO5A1,synonymous_variant,p.=,ENST00000530307,NM_001146009.1;SLCO5A1,3_prime_UTR_variant,,ENST00000524945,NM_001146008.1;SLCO5A1,3_prime_UTR_variant,,ENST00000526750,;							LOW	2328/2547		SO5A1_HUMAN			Transcript			.	ENSP00000260126		CCDS6205.1			1	
F11R	0	LGGM	GRCh37	1	160969450	160969450	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	56	25	.	.	ENST00000368026.6:c.782A>G	p.Tyr261Cys	p.Y261C	ENST00000368026	NM_016946.4	261	tAt/tGt	0	1	1	UPI0000000DC1	0	NA	ENST00000368026		ENSG00000158769	14685		81	2.36		HGNC	p.Y261C		F11R		SNV							ENST00000335772	protein_coding	getma.org/?cm=var&var=hg19,1,160969450,T,C&fts=all		hmmpanther:PTHR12231,hmmpanther:PTHR12231:SF4,Transmembrane_helices:TMhelix		Y/C		C	medium	1057/4835		getma.org/?cm=msa&ty=f&p=JAM1_HUMAN&rb=245&re=297&var=Y261C	tolerated(0.07)	Q6FIB4_HUMAN			YES	F11R,missense_variant,p.Tyr261Cys,ENST00000368026,NM_016946.4;F11R,missense_variant,p.Tyr212Cys,ENST00000537746,;F11R,downstream_gene_variant,,ENST00000472573,;F11R,downstream_gene_variant,,ENST00000335772,;RP11-544M22.13,3_prime_UTR_variant,,ENST00000289779,;RP11-544M22.13,downstream_gene_variant,,ENST00000470694,;F11R,downstream_gene_variant,,ENST00000602966,;							MODERATE	782/900	Y261C	JAM1_HUMAN			Transcript		probably_damaging(0.947)	.	ENSP00000357005		CCDS1213.1			1	
SLC16A9	0	LGGM	GRCh37	10	61414216	61414216	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	87	25	.	.	ENST00000395348.3:c.568C>T	p.Pro190Ser	p.P190S	ENST00000395348	NM_194298.2	190	Ccc/Tcc	0	1		UPI000004D33D	0	NA	ENST00000395347		ENSG00000165449	23520		112	2.65		HGNC	p.P190S		SLC16A9		SNV							ENST00000395348	protein_coding	getma.org/?cm=var&var=hg19,10,61414216,G,A&fts=all		Superfamily_domains:SSF103473,Pfam_domain:PF07690,Gene3D:1.20.1250.20,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF16,PROSITE_profiles:PS50850		P/S		A	medium	677/3646		getma.org/?cm=msa&ty=f&p=MOT9_HUMAN&rb=13&re=410&var=P190S	deleterious(0)					SLC16A9,missense_variant,p.Pro190Ser,ENST00000395348,NM_194298.2;SLC16A9,missense_variant,p.Pro190Ser,ENST00000395347,;							MODERATE	568/1530	P190S	MOT9_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000378756		CCDS7256.1			1	
CABIN1	0	LGGM	GRCh37	22	24562645	24562645	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	44	25	.	.	ENST00000398319.2:c.5046C>T	p.Pro1682=	p.P1682=	ENST00000398319	NM_001199281.1	1682	ccC/ccT	0	1		UPI0000126D6C	0		ENST00000263119		ENSG00000099991	24187		69			HGNC	p.P1603P	rs368418684	CABIN1		SNV	T:0.0002			0.000206			ENST00000405822	protein_coding			hmmpanther:PTHR15502,hmmpanther:PTHR15502:SF7		P	T:0	T		5173/7222								CABIN1,synonymous_variant,p.=,ENST00000398319,NM_001199281.1;CABIN1,synonymous_variant,p.=,ENST00000263119,NM_012295.3,NM_001201429.1;CABIN1,synonymous_variant,p.=,ENST00000405822,;CABIN1,synonymous_variant,p.=,ENST00000337989,;CABIN1,upstream_gene_variant,,ENST00000485008,;CABIN1,downstream_gene_variant,,ENST00000495121,;							LOW	5046/6663		CABIN_HUMAN			Transcript			.	ENSP00000263119	1.65E-05	CCDS13823.1			1	
ABR	0	LGGM	GRCh37	17	1028637	1028637	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	30	25	.	.	ENST00000302538.5:c.127G>A	p.Gly43Ser	p.G43S	ENST00000302538	NM_021962.3	43	Ggc/Agc	0	1	1	UPI00001AED3D	0	NA	ENST00000302538		ENSG00000159842	81		55	1.245		HGNC	p.G43S		ABR		SNV							ENST00000302538	protein_coding	getma.org/?cm=var&var=hg19,17,1028637,C,T&fts=all		hmmpanther:PTHR23182:SF5,hmmpanther:PTHR23182		G/S		T	low	274/5289		getma.org/?cm=msa&ty=f&p=ABR_HUMAN&rb=1&re=94&var=G43S	tolerated_low_confidence(0.07)	I3L4Y1_HUMAN,I3L2P5_HUMAN,I3L2L3_HUMAN,I3L259_HUMAN,B7Z2X0_HUMAN			YES	ABR,missense_variant,p.Gly43Ser,ENST00000302538,NM_021962.3,NM_001282149.1;ABR,5_prime_UTR_variant,,ENST00000544583,NM_001159746.2;ABR,5_prime_UTR_variant,,ENST00000574437,;ABR,5_prime_UTR_variant,,ENST00000575934,;ABR,5_prime_UTR_variant,,ENST00000574139,;ABR,5_prime_UTR_variant,,ENST00000574266,;ABR,5_prime_UTR_variant,,ENST00000570525,;ABR,downstream_gene_variant,,ENST00000574632,;							MODERATE	127/2580	G43S	ABR_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000303909		CCDS10999.1			1	
ZNF230	0	LGGM	GRCh37	19	44514526	44514526	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	50	27	.	.	ENST00000429154.2:c.335A>T	p.Asn112Ile	p.N112I	ENST00000429154	NM_006300.3	112	aAt/aTt	0	1	1	UPI000016960C	0	NA	ENST00000429154		ENSG00000159882	13024		77	1.545		HGNC	p.N112I		ZNF230		SNV							ENST00000429154	protein_coding	getma.org/?cm=var&var=hg19,19,44514526,A,T&fts=all		hmmpanther:PTHR24402,hmmpanther:PTHR24402:SF176		N/I		T	low	563/4115		getma.org/?cm=msa&ty=f&p=ZN230_HUMAN&rb=49&re=166&var=N112I	deleterious(0.03)	K7EMK6_HUMAN			YES	ZNF230,missense_variant,p.Asn112Ile,ENST00000429154,NM_006300.3;ZNF230,downstream_gene_variant,,ENST00000585491,;ZNF230,downstream_gene_variant,,ENST00000585632,;ZNF230,3_prime_UTR_variant,,ENST00000585568,;							MODERATE	335/1425	N112I	ZN230_HUMAN			Transcript		possibly_damaging(0.643)	.	ENSP00000409318		CCDS33044.1			1	
RTF1	0	LGGM	GRCh37	15	41750058	41750058	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	24	27	.	.	ENST00000389629.4:c.646G>A	p.Glu216Lys	p.E216K	ENST00000389629	NM_015138.4	216	Gag/Aag	0	1	1	UPI0000E23C14	0	NA	ENST00000389629		ENSG00000137815	28996		51	1.545		HGNC	p.E216K		RTF1		SNV							ENST00000389629	protein_coding	getma.org/?cm=var&var=hg19,15,41750058,G,A&fts=all		hmmpanther:PTHR13115,hmmpanther:PTHR13115:SF8		E/K		A	low	658/5021		getma.org/?cm=msa&ty=f&p=RTF1_HUMAN&rb=1&re=304&var=E216K	deleterious(0.01)	I7GPQ7_HUMAN			YES	RTF1,missense_variant,p.Glu216Lys,ENST00000389629,NM_015138.4;RTF1,downstream_gene_variant,,ENST00000462276,;RTF1,downstream_gene_variant,,ENST00000558298,;							MODERATE	646/2133	E216K	RTF1_HUMAN			Transcript		possibly_damaging(0.651)	.	ENSP00000374280		CCDS32200.2			1	
KAT6A	0	LGGM	GRCh37	8	41791646	41791646	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	25	27	.	.	ENST00000396930.3:c.4092G>A	p.Lys1364=	p.K1364=	ENST00000396930	NM_001099412.1	1364	aaG/aaA	0	1		UPI000013D666	0		ENST00000265713		ENSG00000083168	13013		52			HGNC	p.K1364K		KAT6A		SNV			1				ENST00000406337	protein_coding			Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR10615:SF26,hmmpanther:PTHR10615		K		T		4504/9153				A5PKX7_HUMAN				KAT6A,synonymous_variant,p.=,ENST00000396930,NM_001099412.1;KAT6A,synonymous_variant,p.=,ENST00000406337,NM_001099413.1;KAT6A,synonymous_variant,p.=,ENST00000265713,NM_006766.3;KAT6A,downstream_gene_variant,,ENST00000418721,;							LOW	4092/6015		KAT6A_HUMAN			Transcript			.	ENSP00000265713		CCDS6124.1			1	
OR56A1	0	LGGM	GRCh37	11	6048347	6048347	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	46	27	.	.	ENST00000316650.5:c.588T>C	p.Cys196=	p.C196=	ENST00000316650	NM_001001917.2	196	tgT/tgC	0	1	1	UPI000013FE4B	0		ENST00000316650		ENSG00000180934	14781		73			HGNC	p.C196C		OR56A1		SNV							ENST00000316650	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,Prints_domain:PR00245,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF62,Superfamily_domains:SSF81321		C		G		625/1071							YES	OR56A1,synonymous_variant,p.=,ENST00000316650,NM_001001917.2;							LOW	588/957		O56A1_HUMAN			Transcript			.	ENSP00000321246		CCDS31405.1			1	
ABCA13	0	LGGM	GRCh37	7	48313621	48313621	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	63	27	.	.	ENST00000435803.1:c.4358G>C	p.Gly1453Ala	p.G1453A	ENST00000435803	NM_152701.3	1453	gGc/gCc	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		90	0		HGNC	p.G1453A		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48313621,G,C&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		G/A		C	neutral	4382/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=1401&re=1600&var=G1453A					YES	ABCA13,missense_variant,p.Gly1453Ala,ENST00000435803,NM_152701.3;ABCA13,downstream_gene_variant,,ENST00000417403,;							MODERATE	4358/15177	G1453A	ABCAD_HUMAN			Transcript		benign(0.005)	.	ENSP00000411096		CCDS47584.1			1	
BNC1	0	LGGM	GRCh37	15	83931945	83931945	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	30	28	.	.	ENST00000345382.2:c.2058T>A	p.Ala686=	p.A686=	ENST00000345382	NM_001717.3	686	gcT/gcA	0	1	1	UPI0000126796	0		ENST00000345382		ENSG00000169594	1081		58			HGNC	p.A679A		BNC1		SNV							ENST00000569704	protein_coding			hmmpanther:PTHR15021,hmmpanther:PTHR15021:SF1		A		T		2144/4610							YES	BNC1,synonymous_variant,p.=,ENST00000345382,NM_001717.3;BNC1,synonymous_variant,p.=,ENST00000569704,;RP11-382A20.4,intron_variant,,ENST00000565495,;							LOW	2058/2985		BNC1_HUMAN			Transcript			.	ENSP00000307041		CCDS10324.1			1	
LRRC16A	0	LGGM	GRCh37	6	25619722	25619722	+	stop_gained	Nonsense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	53	29	.	.	ENST00000329474.6:c.4027A>T	p.Lys1343Ter	p.K1343*	ENST00000329474	NM_001173977.1	1343	Aag/Tag	0	1	1	UPI00004588AB	0	NA	ENST00000329474		ENSG00000079691	21581		82	0		HGNC	p.K1343X		LRRC16A		SNV							ENST00000329474	protein_coding	getma.org/?cm=var&var=hg19,6,25619722,A,T&fts=all		Low_complexity_(Seg):seg		K/*		T	NA	4395/5431		NA					YES	LRRC16A,stop_gained,p.Lys1343Ter,ENST00000329474,NM_001173977.1,NM_017640.5;LRRC16A,non_coding_transcript_exon_variant,,ENST00000476458,;							HIGH	4027/4116	K1343*	LR16A_HUMAN			Transcript			.	ENSP00000331983		CCDS54973.1			1	
FLG2	0	LGGM	GRCh37	1	152326076	152326076	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	367	30	.	.	ENST00000388718.5:c.4186G>C	p.Gly1396Arg	p.G1396R	ENST00000388718	NM_001014342.2	1396	Gga/Cga	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		397	1.455		HGNC	p.G1396R		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152326076,C,G&fts=all		hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G/R		G	low	4259/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=1141&re=1969&var=G1396R					YES	FLG2,missense_variant,p.Gly1396Arg,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	4186/7176	G1396R	FILA2_HUMAN			Transcript		benign(0.429)	.	ENSP00000373370		CCDS30861.1			1	
TRAK2	0	LGGM	GRCh37	2	202260135	202260135	+	frameshift_variant	Frame_Shift_Del	DEL	C	C	-	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	57	30	.	.	ENST00000332624.3:c.802del	p.Glu268LysfsTer10	p.E268Kfs*10	ENST00000332624	NM_015049.2	268	Gaa/aa	0	1	1	UPI0000125022	0		ENST00000332624		ENSG00000115993	13206		87			HGNC	p.E268fs		TRAK2		deletion							ENST00000332624	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04849,hmmpanther:PTHR15751,hmmpanther:PTHR15751:SF13		E/X		-		1231/6510				Q53TT7_HUMAN,Q53RS6_HUMAN			YES	TRAK2,frameshift_variant,p.Glu268LysfsTer10,ENST00000332624,NM_015049.2;TRAK2,frameshift_variant,p.Glu268LysfsTer10,ENST00000430254,;STRADB,intron_variant,,ENST00000458269,;TRAK2,downstream_gene_variant,,ENST00000486291,;							HIGH	802/2745		TRAK2_HUMAN			Transcript			.	ENSP00000328875		CCDS2347.1			1	
HTRA2	0	LGGM	GRCh37	2	74760003	74760003	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	41	30	.	.	ENST00000258080.3:c.1268A>G	p.Asn423Ser	p.N423S	ENST00000258080	NM_013247.4	423	aAt/aGt	0	1	1	UPI000012CB84	0	getma.org/pdb.php?prot=HTRA2_HUMAN&from=360&to=453&var=N423S	ENST00000258080		ENSG00000115317	14348		71	-1.025		HGNC	p.N388S		HTRA2		SNV			1				ENST00000437202	protein_coding	getma.org/?cm=var&var=hg19,2,74760003,A,G&fts=all		Superfamily_domains:SSF50156,SMART_domains:SM00228,Pfam_domain:PF13180,Gene3D:2.30.42.10,hmmpanther:PTHR22939:SF69,hmmpanther:PTHR22939,PROSITE_profiles:PS50106		N/S		G	neutral	1898/2367		getma.org/?cm=msa&ty=f&p=HTRA2_HUMAN&rb=360&re=453&var=N423S	tolerated(0.91)				YES	HTRA2,missense_variant,p.Asn423Ser,ENST00000258080,NM_013247.4;HTRA2,missense_variant,p.Asn388Ser,ENST00000437202,;HTRA2,missense_variant,p.Asn326Ser,ENST00000352222,NM_145074.2;LOXL3,3_prime_UTR_variant,,ENST00000264094,NM_032603.2;LOXL3,3_prime_UTR_variant,,ENST00000409249,;LOXL3,downstream_gene_variant,,ENST00000409549,;LOXL3,downstream_gene_variant,,ENST00000393937,;LOXL3,downstream_gene_variant,,ENST00000409986,;AUP1,upstream_gene_variant,,ENST00000377526,NM_181575.3;LOXL3,downstream_gene_variant,,ENST00000413469,;LOXL3,downstream_gene_variant,,ENST00000420535,;HTRA2,non_coding_transcript_exon_variant,,ENST00000467961,;HTRA2,non_coding_transcript_exon_variant,,ENST00000462909,;HTRA2,downstream_gene_variant,,ENST00000484881,;LOXL3,downstream_gene_variant,,ENST00000481835,;LOXL3,non_coding_transcript_exon_variant,,ENST00000470907,;HTRA2,non_coding_transcript_exon_variant,,ENST00000484352,;AUP1,upstream_gene_variant,,ENST00000466894,;AUP1,upstream_gene_variant,,ENST00000463900,;AUP1,upstream_gene_variant,,ENST00000425118,;AUP1,upstream_gene_variant,,ENST00000486234,;HTRA2,downstream_gene_variant,,ENST00000482331,;AUP1,upstream_gene_variant,,ENST00000464887,;HTRA2,downstream_gene_variant,,ENST00000465521,;AUP1,upstream_gene_variant,,ENST00000472800,;HTRA2,downstream_gene_variant,,ENST00000482205,;							MODERATE	1268/1377	N423S	HTRA2_HUMAN			Transcript		benign(0.019)	.	ENSP00000258080		CCDS1951.1			1	
SNRNP200	0	LGGM	GRCh37	2	96955600	96955600	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	35	31	.	.	ENST00000323853.5:c.2877A>G	p.Thr959=	p.T959=	ENST00000323853	NM_014014.4	959	acA/acG	0	1	1	UPI0000207C53	0		ENST00000323853		ENSG00000144028	30859		66			HGNC	p.T959T		SNRNP200		SNV			1				ENST00000323853	protein_coding			hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF55,Superfamily_domains:SSF46785		T		C		2955/7165				Q9P172_HUMAN,Q7L5W4_HUMAN,Q5ZF01_HUMAN,A4FU77_HUMAN,A2RRQ7_HUMAN			YES	SNRNP200,synonymous_variant,p.=,ENST00000323853,NM_014014.4;SNRNP200,intron_variant,,ENST00000349783,;SNRNP200,upstream_gene_variant,,ENST00000480242,;SNRNP200,upstream_gene_variant,,ENST00000429650,;SNRNP200,upstream_gene_variant,,ENST00000480615,;							LOW	2877/6411		U520_HUMAN			Transcript			.	ENSP00000317123		CCDS2020.1			1	
CIT	0	LGGM	GRCh37	12	120204910	120204910	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	40	34	.	.	ENST00000392521.2:c.2285A>T	p.His762Leu	p.H762L	ENST00000392521	NM_001206999.1	762	cAc/cTc	0	1		UPI00001908FD	0	NA	ENST00000261833		ENSG00000122966	1985		74	-0.695		HGNC	p.H720L		CIT		SNV							ENST00000261833	protein_coding	getma.org/?cm=var&var=hg19,12,120204910,T,A&fts=all		hmmpanther:PTHR22988,hmmpanther:PTHR22988:SF26,PIRSF_domain:PIRSF038145		H/L		A	neutral	2212/8578		getma.org/?cm=msa&ty=f&p=CTRO_HUMAN&rb=428&re=1166&var=H720L	tolerated(0.74)					CIT,missense_variant,p.His762Leu,ENST00000392521,NM_001206999.1;CIT,missense_variant,p.His720Leu,ENST00000261833,NM_007174.2;CIT,missense_variant,p.His348Leu,ENST00000392520,;CIT,intron_variant,,ENST00000536325,;CIT,non_coding_transcript_exon_variant,,ENST00000537607,;CIT,non_coding_transcript_exon_variant,,ENST00000545913,;							MODERATE	2159/6084	H720L	CTRO_HUMAN			Transcript		benign(0)	.	ENSP00000261833		CCDS9192.1			1	
LACE1	0	LGGM	GRCh37	6	108840936	108840936	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	41	35	.	.	ENST00000368977.4:c.1240A>G	p.Ser414Gly	p.S414G	ENST00000368977	NM_145315.3	414	Agc/Ggc	0	1	1	UPI0000072226	0	NA	ENST00000368977		ENSG00000135537	16411		76	1.255		HGNC	p.S414G		LACE1		SNV							ENST00000368977	protein_coding	getma.org/?cm=var&var=hg19,6,108840936,A,G&fts=all		Pfam_domain:PF03969,hmmpanther:PTHR12169,hmmpanther:PTHR12169:SF0		S/G		G	low	1426/5208		getma.org/?cm=msa&ty=f&p=LACE1_HUMAN&rb=74&re=432&var=S414G	tolerated(0.29)				YES	LACE1,missense_variant,p.Ser414Gly,ENST00000368977,NM_145315.3;LACE1,missense_variant,p.Ser282Gly,ENST00000421954,;LACE1,upstream_gene_variant,,ENST00000481842,;LACE1,3_prime_UTR_variant,,ENST00000431865,;LACE1,non_coding_transcript_exon_variant,,ENST00000486863,;							MODERATE	1240/1446	S414G	LACE1_HUMAN			Transcript		benign(0.001)	.	ENSP00000357973		CCDS5067.1			1	
PTPRB	0	LGGM	GRCh37	12	71002956	71002956	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	57	36	.	.	ENST00000334414.6:c.872T>A	p.Ile291Lys	p.I291K	ENST00000334414	NM_001109754.2	291	aTa/aAa	0	1		UPI00001FC788	0	NA	ENST00000261266		ENSG00000127329	9665		93	1.04		HGNC	p.I291K		PTPRB		SNV							ENST00000334414	protein_coding	getma.org/?cm=var&var=hg19,12,71002956,A,T&fts=all		Pfam_domain:PF00041,PROSITE_profiles:PS50853,hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF219,SMART_domains:SM00060,Superfamily_domains:SSF49265		I/K		T	low	248/6110		getma.org/?cm=msa&ty=f&p=PTPRB_HUMAN&rb=25&re=103&var=I73K	tolerated_low_confidence(0.99)					PTPRB,missense_variant,p.Ile291Lys,ENST00000334414,NM_001109754.2;PTPRB,missense_variant,p.Ile73Lys,ENST00000451516,NM_001206971.1;PTPRB,missense_variant,p.Ile291Lys,ENST00000550358,;PTPRB,missense_variant,p.Ile73Lys,ENST00000261266,NM_002837.4;PTPRB,missense_variant,p.Ile73Lys,ENST00000550857,;PTPRB,missense_variant,p.Ile73Lys,ENST00000538708,NM_001206972.1;PTPRB,missense_variant,p.Ile290Lys,ENST00000551525,;PTPRB,missense_variant,p.Ile170Lys,ENST00000548122,;PTPRB,missense_variant,p.Ile65Lys,ENST00000547715,;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,;							MODERATE	218/5994	I73K	PTPRB_HUMAN			Transcript		benign(0.003)	.	ENSP00000261266		CCDS44944.1			1	
NXPE2	0	LGGM	GRCh37	11	114569242	114569242	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	50	36	.	.	ENST00000389586.4:c.608T>A	p.Leu203His	p.L203H	ENST00000389586	NM_182495.5	203	cTc/cAc	0	1	1	UPI0001662547	0	NA	ENST00000389586		ENSG00000204361	26331		86	3.14		HGNC	p.L203H		NXPE2		SNV							ENST00000375475	protein_coding	getma.org/?cm=var&var=hg19,11,114569242,T,A&fts=all		hmmpanther:PTHR16165:SF6,hmmpanther:PTHR16165,Pfam_domain:PF06312		L/H		A	medium	798/1873		getma.org/?cm=msa&ty=f&p=FA55B_HUMAN&rb=84&re=281&var=L203H	deleterious(0)				YES	NXPE2,missense_variant,p.Leu203His,ENST00000375475,;NXPE2,missense_variant,p.Leu203His,ENST00000389586,NM_182495.5;							MODERATE	608/1680	L203H	NXPE2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374237		CCDS44738.1			1	
PTPRZ1	0	LGGM	GRCh37	7	121653133	121653133	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	79	39	.	.	ENST00000393386.2:c.4033A>T	p.Thr1345Ser	p.T1345S	ENST00000393386	NM_001206838.1	1345	Act/Tct	0	1	1	UPI000020F9BB	0	NA	ENST00000393386		ENSG00000106278	9685		118	1.95		HGNC	p.T1345S		PTPRZ1		SNV							ENST00000393386	protein_coding	getma.org/?cm=var&var=hg19,7,121653133,A,T&fts=all		hmmpanther:PTHR19134,hmmpanther:PTHR19134:SF214		T/S		T	medium	4444/8175		getma.org/?cm=msa&ty=f&p=PTPRZ_HUMAN&rb=421&re=1661&var=T1345S	tolerated_low_confidence(0.51)				YES	PTPRZ1,missense_variant,p.Thr1345Ser,ENST00000393386,NM_001206838.1,NM_002851.2;PTPRZ1,intron_variant,,ENST00000449182,NM_001206839.1;PTPRZ1,non_coding_transcript_exon_variant,,ENST00000483028,;							MODERATE	4033/6948	T1345S	PTPRZ_HUMAN			Transcript		benign(0.006)	.	ENSP00000377047		CCDS34740.1			1	
PDE4DIP	0	LGGM	GRCh37	1	144892471	144892471	+	intron_variant	Intron	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	242	42	.	.	ENST00000369356.4:c.2904+30A>T		*968*	ENST00000369356	NM_014644.5			0	1		UPI0000251FAA	0		ENST00000369354		ENSG00000178104	15580		284			HGNC	p.P978P		PDE4DIP		SNV							ENST00000369351	protein_coding							A		-/8262				I1VE15_HUMAN				PDE4DIP,synonymous_variant,p.=,ENST00000369351,;PDE4DIP,intron_variant,,ENST00000369359,;PDE4DIP,intron_variant,,ENST00000369356,NM_014644.5,NM_001198834.3;PDE4DIP,intron_variant,,ENST00000530740,;PDE4DIP,intron_variant,,ENST00000369354,;PDE4DIP,intron_variant,,ENST00000313382,NM_001198832.2;PDE4DIP,intron_variant,,ENST00000313431,NM_001002811.2;PDE4DIP,intron_variant,,ENST00000369349,NM_001002812.2;PDE4DIP,intron_variant,,ENST00000491426,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000467859,;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000533963,;PDE4DIP,intron_variant,,ENST00000524974,;PDE4DIP,intron_variant,,ENST00000530062,;PDE4DIP,intron_variant,,ENST00000525886,;							MODIFIER	-/7041		MYOME_HUMAN			Transcript			.	ENSP00000358360		CCDS30824.1			1	
MYCBP2	0	LGGM	GRCh37	13	77831850	77831850	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	23	43	.	.	ENST00000544440.2:c.2018G>A	p.Gly673Glu	p.G673E	ENST00000544440		673	gGa/gAa	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		66	3.495		HGNC	p.G711E		MYCBP2		SNV							ENST00000407578	protein_coding	getma.org/?cm=var&var=hg19,13,77831850,C,T&fts=all		Gene3D:2.130.10.30,Pfam_domain:PF13540,Prints_domain:PR00633,hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14,Superfamily_domains:SSF50985		G/E		T	medium	2111/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=645&re=674&var=G673E						MYCBP2,missense_variant,p.Gly711Glu,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Gly673Glu,ENST00000357337,;MYCBP2,missense_variant,p.Gly673Glu,ENST00000544440,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;							MODERATE	2018/13923	G673E	MYCB2_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000349892					1	
CNTN5	0	LGGM	GRCh37	11	100061931	100061931	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	57	47	.	.	ENST00000524871.1:c.1654C>T	p.Arg552Ter	p.R552*	ENST00000524871	NM_014361.3	552	Cga/Tga	0	1	1	UPI000006DAB0	0	NA	ENST00000524871		ENSG00000149972	2175		104	0		HGNC	p.R552X		CNTN5		SNV							ENST00000528682	protein_coding	getma.org/?cm=var&var=hg19,11,100061931,C,T&fts=all		Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR10489,hmmpanther:PTHR10489:SF51,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		R/*		T	NA	1944/6258		NA		B4DGP0_HUMAN			YES	CNTN5,stop_gained,p.Arg552Ter,ENST00000524871,NM_014361.3;CNTN5,stop_gained,p.Arg552Ter,ENST00000527185,NM_001243271.1;CNTN5,stop_gained,p.Arg552Ter,ENST00000528682,NM_001243270.1;CNTN5,stop_gained,p.Arg478Ter,ENST00000418526,NM_175566.2;CNTN5,stop_gained,p.Arg552Ter,ENST00000279463,;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,;CNTN5,non_coding_transcript_exon_variant,,ENST00000528727,;							HIGH	1654/3303	R552*	CNTN5_HUMAN			Transcript			.	ENSP00000435637		CCDS53696.1			1	
HERC6	0	LGGM	GRCh37	4	89361097	89361097	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112562	H112562N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	28	48	.	.	ENST00000264346.7:c.2627A>G	p.Gln876Arg	p.Q876R	ENST00000264346	NM_017912.3	876	cAg/cGg	0	1	1	UPI00004C7A84	0	getma.org/pdb.php?prot=HERC6_HUMAN&from=722&to=1016&var=Q876R	ENST00000264346		ENSG00000138642	26072		76	-0.415		HGNC	p.Q840R	rs753816482	HERC6		SNV							ENST00000380265	protein_coding	getma.org/?cm=var&var=hg19,4,89361097,A,G&fts=all		Superfamily_domains:SSF56204,SMART_domains:SM00119,Pfam_domain:PF00632,hmmpanther:PTHR11254:SF297,hmmpanther:PTHR11254,PROSITE_profiles:PS50237		Q/R		G	neutral	2686/3779	2.38E-05	getma.org/?cm=msa&ty=f&p=HERC6_HUMAN&rb=722&re=1016&var=Q876R	tolerated(0.07)	B3KUG6_HUMAN			YES	HERC6,missense_variant,p.Gln840Arg,ENST00000380265,NM_001165136.1;HERC6,missense_variant,p.Gln876Arg,ENST00000264346,NM_017912.3;HERC6,non_coding_transcript_exon_variant,,ENST00000506842,;							MODERATE	2627/3069	Q876R	HERC6_HUMAN			Transcript		possibly_damaging(0.841)	.	ENSP00000264346	8.28E-06	CCDS47098.1			1	
CCL16	0	LGGM	GRCh37	17	34305275	34305275	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	55	49	.	.	ENST00000293275.3:c.101C>A	p.Pro34Gln	p.P34Q	ENST00000293275	NM_004590.2	34	cCa/cAa	0	1	1	UPI00001362D8	0	getma.org/pdb.php?prot=CCL16_HUMAN&from=30&to=90&var=P34Q	ENST00000293275		ENSG00000161573	10614		104	2.715		HGNC	p.P34Q		CCL16		SNV							ENST00000293275	protein_coding	getma.org/?cm=var&var=hg19,17,34305275,G,T&fts=all		hmmpanther:PTHR12015,hmmpanther:PTHR12015:SF21,Gene3D:2.40.50.40,Pfam_domain:PF00048,SMART_domains:SM00199,Superfamily_domains:SSF54117		P/Q		T	medium	177/1506		getma.org/?cm=msa&ty=f&p=CCL16_HUMAN&rb=30&re=90&var=P34Q	deleterious(0.03)				YES	CCL16,missense_variant,p.Pro34Gln,ENST00000293275,NM_004590.2;CCL16,missense_variant,p.Pro9Gln,ENST00000483259,;CCL16,3_prime_UTR_variant,,ENST00000586567,;							MODERATE	101/363	P34Q	CCL16_HUMAN			Transcript		benign(0.079)	.	ENSP00000293275		CCDS11303.1			1	
DUSP5	0	LGGM	GRCh37	10	112266704	112266704	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112562	H112562N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	84	61	.	.	ENST00000369583.3:c.540T>A	p.Val180=	p.V180=	ENST00000369583	NM_004419.3	180	gtT/gtA	0	1	1	UPI000013D0FF	0		ENST00000369583		ENSG00000138166	3071		145			HGNC	p.V180V		DUSP5		SNV							ENST00000369583	protein_coding			Gene3D:3.90.190.10,PIRSF_domain:PIRSF000939,PROSITE_profiles:PS50054,hmmpanther:PTHR10159,hmmpanther:PTHR10159:SF40,SMART_domains:SM00195,Superfamily_domains:SSF52799		V		A		824/2557							YES	DUSP5,synonymous_variant,p.=,ENST00000369583,NM_004419.3;DUSP5,non_coding_transcript_exon_variant,,ENST00000468749,;							LOW	540/1155		DUS5_HUMAN			Transcript			.	ENSP00000358596		CCDS7566.1			1	
TAS2R39	0	LGGM	GRCh37	7	142881247	142881247	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112562	H112562N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	68	62	.	.	ENST00000446620.1:c.736G>A	p.Ala246Thr	p.A246T	ENST00000446620	NM_176881.2	246	Gcc/Acc	0	1	1	UPI00000620BE	0	NA	ENST00000446620		ENSG00000236398	18886		130	1.67		HGNC	p.A246T	rs757996157	TAS2R39		SNV				0.000102			ENST00000446620	protein_coding	getma.org/?cm=var&var=hg19,7,142881247,G,A&fts=all		Superfamily_domains:SSF81321,Pfam_domain:PF05296,hmmpanther:PTHR11394:SF40,hmmpanther:PTHR11394		A/T		A	low	736/1017		getma.org/?cm=msa&ty=f&p=T2R39_HUMAN&rb=29&re=330&var=A246T	tolerated(0.19)	Q50KL2_HUMAN			YES	TAS2R39,missense_variant,p.Ala246Thr,ENST00000446620,NM_176881.2;							MODERATE	736/1017	A246T	T2R39_HUMAN			Transcript		benign(0.26)	.	ENSP00000405095	8.27E-06	CCDS47729.1			1	
SLC27A3	0	LGGM	GRCh37	1	153749114	153749114	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	41	64	.	.	ENST00000368661.3:c.929C>G	p.Ala310Gly	p.A310G	ENST00000368661	NM_024330.1	310	gCt/gGt	0	1	1	UPI0000038E9E	0	getma.org/pdb.php?prot=S27A3_HUMAN&from=204&to=622&var=A310G	ENST00000368661		ENSG00000143554	10997		105	0.46		HGNC	p.A310G	rs763843241	SLC27A3	6.06E-05	SNV							ENST00000368661	protein_coding	getma.org/?cm=var&var=hg19,1,153749114,C,G&fts=all		hmmpanther:PTHR24096:SF94,hmmpanther:PTHR24096,Pfam_domain:PF00501,Gene3D:3.40.50.980,Superfamily_domains:SSF56801		A/G		G	neutral	994/2410		getma.org/?cm=msa&ty=f&p=S27A3_HUMAN&rb=204&re=622&var=A310G	tolerated(0.13)				YES	SLC27A3,missense_variant,p.Ala391Gly,ENST00000271857,;SLC27A3,missense_variant,p.Ala310Gly,ENST00000368661,NM_024330.1;SLC27A3,missense_variant,p.Ala15Gly,ENST00000458027,;INTS3,downstream_gene_variant,,ENST00000456435,;INTS3,downstream_gene_variant,,ENST00000318967,NM_023015.3;INTS3,downstream_gene_variant,,ENST00000435409,;INTS3,downstream_gene_variant,,ENST00000512605,;SLC27A3,upstream_gene_variant,,ENST00000524676,;SLC27A3,upstream_gene_variant,,ENST00000532853,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000484014,;INTS3,downstream_gene_variant,,ENST00000476843,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000468403,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000483574,;SLC27A3,non_coding_transcript_exon_variant,,ENST00000461269,;INTS3,downstream_gene_variant,,ENST00000481797,;INTS3,downstream_gene_variant,,ENST00000368670,;INTS3,downstream_gene_variant,,ENST00000368669,;INTS3,downstream_gene_variant,,ENST00000503133,;SLC27A3,upstream_gene_variant,,ENST00000531251,;SLC27A3,upstream_gene_variant,,ENST00000468044,;SLC27A3,upstream_gene_variant,,ENST00000368660,;SLC27A3,upstream_gene_variant,,ENST00000368659,;							MODERATE	929/2193	A310G	S27A3_HUMAN			Transcript		possibly_damaging(0.472)	.	ENSP00000357650	8.24E-06	CCDS1053.1			1	
PCLO	0	LGGM	GRCh37	7	82546009	82546009	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	189	98	.	.	ENST00000333891.9:c.11293G>A	p.Asp3765Asn	p.D3765N	ENST00000333891	NM_033026.5	3765	Gac/Aac	0	1	1	UPI0001573469	0	NA	ENST00000333891		ENSG00000186472	13406		287	2.085		HGNC	p.D485N		PCLO		SNV			1				ENST00000437081	protein_coding	getma.org/?cm=var&var=hg19,7,82546009,C,T&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR14113,hmmpanther:PTHR14113:SF6		D/N		T	medium	11631/20329		getma.org/?cm=msa&ty=f&p=PCLO_HUMAN&rb=1829&re=4439&var=D3696N					YES	PCLO,missense_variant,p.Asp3765Asn,ENST00000333891,NM_033026.5;PCLO,missense_variant,p.Asp3765Asn,ENST00000423517,NM_014510.2;PCLO,missense_variant,p.Asp485Asn,ENST00000437081,;							MODERATE	11293/15429	D3696N	PCLO_HUMAN			Transcript		unknown(0)	.	ENSP00000334319		CCDS47630.1			1	
AHNAK2	0	LGGM	GRCh37	14	105409440	105409440	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	61	125	.	.	ENST00000333244.5:c.12348G>A	p.Glu4116=	p.E4116=	ENST00000333244	NM_138420.2	4116	gaG/gaA	0	1	1	UPI00015BB2CA	0		ENST00000333244		ENSG00000185567	20125		186			HGNC	p.E4116E		AHNAK2		SNV							ENST00000333244	protein_coding			hmmpanther:PTHR23348,hmmpanther:PTHR23348:SF37		E		T		12468/18254							YES	AHNAK2,synonymous_variant,p.=,ENST00000333244,NM_138420.2;AHNAK2,intron_variant,,ENST00000557457,;AHNAK2,non_coding_transcript_exon_variant,,ENST00000555122,;							LOW	12348/17388		AHNK2_HUMAN			Transcript			.	ENSP00000353114		CCDS45177.1			1	
FLG2	0	LGGM	GRCh37	1	152327587	152327587	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112562	H112562N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112562N.bam, H112562T.bam	Illumina HiSeq	498	154	.	.	ENST00000388718.5:c.2675G>A	p.Gly892Asp	p.G892D	ENST00000388718	NM_001014342.2	892	gGt/gAt	0	1	1	UPI00004E1DE5	0	NA	ENST00000388718		ENSG00000143520	33276		652	2.25		HGNC	p.G892D		FLG2		SNV							ENST00000388718	protein_coding	getma.org/?cm=var&var=hg19,1,152327587,C,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR22571,hmmpanther:PTHR22571:SF24		G/D		T	medium	2748/9124		getma.org/?cm=msa&ty=f&p=FILA2_HUMAN&rb=461&re=1139&var=G892D					YES	FLG2,missense_variant,p.Gly892Asp,ENST00000388718,NM_001014342.2;FLG-AS1,intron_variant,,ENST00000392688,;FLG-AS1,intron_variant,,ENST00000445097,;							MODERATE	2675/7176	G892D	FILA2_HUMAN			Transcript		unknown(0)	.	ENSP00000373370		CCDS30861.1			1	
PNN	0	LGGM	GRCh37	14	39644577	39644577	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	10	2	.	.	ENST00000216832.4:c.94C>A	p.Arg32=	p.R32=	ENST00000216832	NM_002687.3	32	Cgg/Agg	0	1	1	UPI000013C70D	0		ENST00000216832		ENSG00000100941	9162		12			HGNC	p.R32R		PNN		SNV							ENST00000556530	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF04697,hmmpanther:PTHR12707		R		A		161/3576							YES	PNN,synonymous_variant,p.=,ENST00000216832,NM_002687.3;PNN,synonymous_variant,p.=,ENST00000553331,;PNN,synonymous_variant,p.=,ENST00000556530,;TRAPPC6B,upstream_gene_variant,,ENST00000347691,NM_177452.3;RP11-407N17.4,intron_variant,,ENST00000556537,;PNN,upstream_gene_variant,,ENST00000557680,;PNN,non_coding_transcript_exon_variant,,ENST00000554117,;TRAPPC6B,upstream_gene_variant,,ENST00000469361,;TRAPPC6B,upstream_gene_variant,,ENST00000556765,;PNN,upstream_gene_variant,,ENST00000554902,;							LOW	94/2154		PININ_HUMAN			Transcript			.	ENSP00000216832		CCDS9671.1			1	
ARHGEF37	0	LGGM	GRCh37	5	149008391	149008391	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	11	2	.	.	ENST00000333677.6:c.1680G>T	p.Pro560=	p.P560=	ENST00000333677	NM_001001669.2	560	ccG/ccT	0	1	1	UPI00001D7F04	0		ENST00000333677		ENSG00000183111	34430		13			HGNC	p.P560P		ARHGEF37		SNV							ENST00000333677	protein_coding			hmmpanther:PTHR22834:SF9,hmmpanther:PTHR22834,Pfam_domain:PF07653,Gene3D:2.30.30.40,SMART_domains:SM00326,Superfamily_domains:SSF50044		P		T		1843/4968				D6RJH4_HUMAN			YES	ARHGEF37,synonymous_variant,p.=,ENST00000333677,NM_001001669.2;ARHGEF37,non_coding_transcript_exon_variant,,ENST00000509831,;							LOW	1680/2028		ARH37_HUMAN			Transcript			.	ENSP00000328083		CCDS43385.1			1	
MOXD1	0	LGGM	GRCh37	6	132641825	132641825	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	13	2	.	.	ENST00000367963.3:c.1308A>G	p.Gly436=	p.G436=	ENST00000367963	NM_015529.2	436	ggA/ggG	0	1	1	UPI000003F04F	0		ENST00000367963		ENSG00000079931	21063		15			HGNC	p.G436G		MOXD1		SNV							ENST00000367963	protein_coding			Gene3D:2.60.120.230,Pfam_domain:PF03712,hmmpanther:PTHR10157,hmmpanther:PTHR10157:SF21,Superfamily_domains:SSF49742		G		C		1427/3059							YES	MOXD1,splice_region_variant,p.=,ENST00000367963,NM_015529.2;MOXD1,splice_region_variant,p.=,ENST00000336749,;MOXD1,splice_region_variant,,ENST00000489128,;							LOW	1308/1842		MOXD1_HUMAN			Transcript			.	ENSP00000356940		CCDS5152.2			1	
ABHD8	0	LGGM	GRCh37	19	17405653	17405653	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	7	2	.	.	ENST00000247706.3:c.763G>T	p.Val255Phe	p.V255F	ENST00000247706	NM_024527.4	255	Gtc/Ttc	0	1	1	UPI0000043630	0	getma.org/pdb.php?prot=ABHD8_HUMAN&from=178&to=411&var=V255F	ENST00000247706		ENSG00000127220	23759		9	1.445		HGNC	p.V255F		ABHD8		SNV							ENST00000247706	protein_coding	getma.org/?cm=var&var=hg19,19,17405653,C,A&fts=all		Gene3D:3.40.50.1820,Pfam_domain:PF12697,Prints_domain:PR00111,Prints_domain:PR00412,hmmpanther:PTHR10992,hmmpanther:PTHR10992:SF23,Superfamily_domains:SSF53474		V/F		A	low	1003/2090		getma.org/?cm=msa&ty=f&p=ABHD8_HUMAN&rb=178&re=411&var=V255F	deleterious(0.02)	B2C6G3_HUMAN			YES	ABHD8,missense_variant,p.Val255Phe,ENST00000247706,NM_024527.4;MRPL34,intron_variant,,ENST00000595444,;MRPL34,intron_variant,,ENST00000600434,;CTD-2278I10.4,downstream_gene_variant,,ENST00000594077,;MRPL34,upstream_gene_variant,,ENST00000597996,;							MODERATE	763/1320	V255F	ABHD8_HUMAN			Transcript		probably_damaging(0.926)	.	ENSP00000247706		CCDS12355.1			1	
ZNF630	0	LGGM	GRCh37	X	47917899	47917899	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	42	3	.	.	ENST00000409324.3:c.1932G>T	p.Gly644=	p.G644=	ENST00000409324	NM_001037735.2	644	ggG/ggT	0	1	1	UPI0000160BE4	0		ENST00000409324		ENSG00000221994	28855		45			HGNC	p.G644G		ZNF630		SNV							ENST00000409324	protein_coding			Gene3D:3.30.160.60,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		A		2159/2455				B2ZWH0_HUMAN,B2ZWG9_HUMAN,B2ZWG8_HUMAN			YES	ZNF630,synonymous_variant,p.=,ENST00000276054,;ZNF630,synonymous_variant,p.=,ENST00000442455,NM_001190255.1;ZNF630,synonymous_variant,p.=,ENST00000409324,NM_001037735.2;ZNF630,downstream_gene_variant,,ENST00000428686,;ZNF630,downstream_gene_variant,,ENST00000421903,;ZNF630-AS1,intron_variant,,ENST00000436124,;ZNF630,intron_variant,,ENST00000428463,;							LOW	1932/1974		ZN630_HUMAN			Transcript			.	ENSP00000386393		CCDS35237.2			1	
CALM1	0	LGGM	GRCh37	14	90870222	90870222	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	40	3	.	.	ENST00000356978.4:c.195C>A	p.Asp65Glu	p.D65E	ENST00000356978	NM_006888.4	65	gaC/gaA	0	1	1	UPI00000000C1	0		ENST00000356978		ENSG00000198668	1442		43			HGNC	p.D29E		CALM1		SNV			1				ENST00000557020	protein_coding			Gene3D:1.10.238.10,Pfam_domain:PF13499,Prints_domain:PR00450,PROSITE_patterns:PS00018,PROSITE_profiles:PS50222,hmmpanther:PTHR23050,hmmpanther:PTHR23050:SF155,SMART_domains:SM00054,Superfamily_domains:SSF47473		D/E		A		443/4242			tolerated_low_confidence(0.17)	Q96HY3_HUMAN,G3V361_HUMAN,B4DJ51_HUMAN			YES	CALM1,missense_variant,p.Asp65Glu,ENST00000356978,NM_006888.4;CALM1,missense_variant,p.Asp66Glu,ENST00000447653,;CALM1,missense_variant,p.Asp29Glu,ENST00000544280,;CALM1,missense_variant,p.Asp29Glu,ENST00000553542,;CALM1,missense_variant,p.Asp29Glu,ENST00000557020,;RP11-471B22.2,intron_variant,,ENST00000555853,;CALM1,missense_variant,p.Asp29Glu,ENST00000553422,;CALM1,non_coding_transcript_exon_variant,,ENST00000553964,;CALM1,non_coding_transcript_exon_variant,,ENST00000553995,;CALM1,non_coding_transcript_exon_variant,,ENST00000555267,;CALM1,non_coding_transcript_exon_variant,,ENST00000554296,;CALM1,intron_variant,,ENST00000553630,;CALM1,downstream_gene_variant,,ENST00000556757,;CALM1,downstream_gene_variant,,ENST00000557123,;CALM1,upstream_gene_variant,,ENST00000556721,;							MODERATE	195/450		CALM_HUMAN			Transcript		benign(0.374)	.	ENSP00000349467		CCDS9892.1			1	
SRRM2	0	LGGM	GRCh37	16	2816558	2816558	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	25	3	.	.	ENST00000301740.8:c.6029C>A	p.Thr2010Asn	p.T2010N	ENST00000301740	NM_016333.3	2010	aCc/aAc	0	1	1	UPI000049DDFC	0	NA	ENST00000301740		ENSG00000167978	16639		28	0		HGNC	p.T2010N		SRRM2		SNV							ENST00000571093	protein_coding	getma.org/?cm=var&var=hg19,16,2816558,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR32093:SF13,hmmpanther:PTHR32093		T/N		A	neutral	6578/9353		getma.org/?cm=msa&ty=f&p=SRRM2_HUMAN&rb=1860&re=2059&var=T2010N		I3L4D8_HUMAN,I3L1I8_HUMAN,I3L1C0_HUMAN,I3L182_HUMAN,I3L0N7_HUMAN			YES	SRRM2,missense_variant,p.Thr2010Asn,ENST00000301740,NM_016333.3;SRRM2,downstream_gene_variant,,ENST00000576924,;SRRM2,downstream_gene_variant,,ENST00000571378,;SRRM2,downstream_gene_variant,,ENST00000575009,;TCEB2,downstream_gene_variant,,ENST00000409477,;TCEB2,downstream_gene_variant,,ENST00000409906,NM_007108.3;TCEB2,downstream_gene_variant,,ENST00000262306,NM_207013.2;SRRM2,upstream_gene_variant,,ENST00000570539,;AC092117.2,upstream_gene_variant,,ENST00000581119,;SRRM2,upstream_gene_variant,,ENST00000574593,;SRRM2,upstream_gene_variant,,ENST00000572721,;SRRM2,downstream_gene_variant,,ENST00000572278,;SRRM2,upstream_gene_variant,,ENST00000574866,;SRRM2,downstream_gene_variant,,ENST00000576674,;SRRM2,upstream_gene_variant,,ENST00000573583,;SRRM2,upstream_gene_variant,,ENST00000574331,;SRRM2,upstream_gene_variant,,ENST00000576878,;SRRM2,downstream_gene_variant,,ENST00000572952,;SRRM2,downstream_gene_variant,,ENST00000573498,;SRRM2,upstream_gene_variant,,ENST00000572883,;SRRM2,upstream_gene_variant,,ENST00000573311,;SRRM2,upstream_gene_variant,,ENST00000570705,;SRRM2,upstream_gene_variant,,ENST00000571041,;SRRM2,upstream_gene_variant,,ENST00000573692,;							MODERATE	6029/8259	T2010N	SRRM2_HUMAN			Transcript		unknown(0)	.	ENSP00000301740		CCDS32373.1			1	
TRPM3	0	LGGM	GRCh37	9	73736094	73736094	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	44	3	.	.	ENST00000377110.3:c.177G>T	p.Lys59Asn	p.K59N	ENST00000377110		59	aaG/aaT	0	1	1	UPI0001596895	0	NA	ENST00000377110		ENSG00000083067	17992		47	1.59		HGNC	p.K59N		TRPM3		SNV							ENST00000377111	protein_coding	getma.org/?cm=var&var=hg19,9,73736094,C,A&fts=all		hmmpanther:PTHR13800,hmmpanther:PTHR13800:SF7		K/N		A	low	421/12258		getma.org/?cm=msa&ty=f&p=TRPM3_HUMAN&rb=40&re=239&var=K59N	deleterious(0)				YES	TRPM3,missense_variant,p.Lys59Asn,ENST00000377110,;TRPM3,missense_variant,p.Lys59Asn,ENST00000377111,NM_001007471.2;TRPM3,intron_variant,,ENST00000423814,;TRPM3,intron_variant,,ENST00000357533,;TRPM3,intron_variant,,ENST00000354500,;							MODERATE	177/5124	K59N	TRPM3_HUMAN			Transcript		benign(0.054)	.	ENSP00000366314		CCDS43835.1			1	
NF2	0	LGGM	GRCh37	22	30038228	30038228	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	35	3	.	.	ENST00000338641.4:c.401C>A	p.Pro134His	p.P134H	ENST00000338641	NM_000268.3	134	cCt/cAt	0	1	1	UPI000012EF27	0	getma.org/pdb.php?prot=MERL_HUMAN&from=105&to=222&var=P134H	ENST00000338641		ENSG00000186575	7773		38	3.065		HGNC	p.P134H		NF2		SNV			1				ENST00000403435	protein_coding	getma.org/?cm=var&var=hg19,22,30038228,C,A&fts=all		PROSITE_profiles:PS50057,hmmpanther:PTHR23281:SF17,hmmpanther:PTHR23281,Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002305,SMART_domains:SM00295,Superfamily_domains:SSF47031,Prints_domain:PR00935,Prints_domain:PR00661		P/H		A	medium	842/6025		getma.org/?cm=msa&ty=f&p=MERL_HUMAN&rb=105&re=222&var=P134H	deleterious(0)	Q9NRW8_HUMAN			YES	NF2,missense_variant,p.Pro134His,ENST00000338641,NM_000268.3,NM_016418.5,NM_181832.2;NF2,missense_variant,p.Pro93His,ENST00000361452,NM_181830.2,NM_181829.2;NF2,missense_variant,p.Pro51His,ENST00000347330,;NF2,missense_variant,p.Pro134His,ENST00000413209,NM_181833.2;NF2,missense_variant,p.Pro134His,ENST00000403999,NM_181825.2;NF2,missense_variant,p.Pro134His,ENST00000403435,;NF2,missense_variant,p.Pro51His,ENST00000334961,NM_181831.2;NF2,missense_variant,p.Pro134His,ENST00000397789,;NF2,missense_variant,p.Pro51His,ENST00000353887,;NF2,missense_variant,p.Pro134His,ENST00000361166,;NF2,missense_variant,p.Pro92His,ENST00000361676,NM_181828.2;NF2,missense_variant,p.Pro51His,ENST00000432151,;							MODERATE	401/1788	P134H	MERL_HUMAN			Transcript		possibly_damaging(0.796)	.	ENSP00000344666		CCDS13861.1			1	
CAP1	0	LGGM	GRCh37	1	40537175	40537175	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	27	3	.	.	ENST00000372797.3:c.1398G>T	p.Leu466Phe	p.L466F	ENST00000372797	NM_006367.3	466	ttG/ttT	0	1		UPI000013CDDF	0	getma.org/pdb.php?prot=CAP1_HUMAN&from=317&to=474&var=L466F	ENST00000372792		ENSG00000131236	20040		30	1.965		HGNC	p.L465F		CAP1		SNV							ENST00000372802	protein_coding	getma.org/?cm=var&var=hg19,1,40537175,G,T&fts=all		Superfamily_domains:SSF69340,Pfam_domain:PF08603,Gene3D:2.160.20.70,hmmpanther:PTHR10652:SF1,hmmpanther:PTHR10652		L/F		T	medium	1464/1496		getma.org/?cm=msa&ty=f&p=CAP1_HUMAN&rb=317&re=474&var=L466F	tolerated(0.07)	Q5T0R8_HUMAN,Q5T0R7_HUMAN,Q5T0R6_HUMAN,Q5T0R5_HUMAN,Q5T0R4_HUMAN,Q5T0R3_HUMAN,Q5T0R2_HUMAN,Q5T0R1_HUMAN				CAP1,missense_variant,p.Leu466Phe,ENST00000372797,NM_006367.3,NM_001105530.1;CAP1,missense_variant,p.Leu465Phe,ENST00000372802,;CAP1,missense_variant,p.Leu465Phe,ENST00000340450,;CAP1,missense_variant,p.Leu466Phe,ENST00000372805,;CAP1,missense_variant,p.Leu465Phe,ENST00000372798,;CAP1,missense_variant,p.Leu466Phe,ENST00000372792,;PPT1,downstream_gene_variant,,ENST00000433473,NM_000310.3;PPT1,downstream_gene_variant,,ENST00000449045,NM_001142604.1;CAP1,downstream_gene_variant,,ENST00000435719,;CAP1,downstream_gene_variant,,ENST00000427843,;PPT1,downstream_gene_variant,,ENST00000439754,;PPT1,downstream_gene_variant,,ENST00000527311,;PPT1,downstream_gene_variant,,ENST00000530076,;CAP1,downstream_gene_variant,,ENST00000414893,;CAP1,non_coding_transcript_exon_variant,,ENST00000479759,;CAP1,non_coding_transcript_exon_variant,,ENST00000461993,;CAP1,non_coding_transcript_exon_variant,,ENST00000494114,;PPT1,downstream_gene_variant,,ENST00000372775,;PPT1,downstream_gene_variant,,ENST00000529905,;PPT1,downstream_gene_variant,,ENST00000530704,;							MODERATE	1398/1428	L466F	CAP1_HUMAN			Transcript		probably_damaging(0.989)	.	ENSP00000361878		CCDS41309.1			1	
ZFHX3	0	LGGM	GRCh37	16	72828376	72828376	+	stop_gained	Nonsense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	47	3	.	.	ENST00000268489.5:c.8205G>A	p.Trp2735Ter	p.W2735*	ENST00000268489	NM_006885.3	2735	tgG/tgA	0	1	1	UPI00001AE937	0	NA	ENST00000268489		ENSG00000140836	777		50	0		HGNC	p.W2735X		ZFHX3		SNV							ENST00000268489	protein_coding	getma.org/?cm=var&var=hg19,16,72828376,C,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24208:SF84,hmmpanther:PTHR24208		W/*		T	NA	8878/16064		NA		Q6TCJ2_HUMAN			YES	ZFHX3,stop_gained,p.Trp2735Ter,ENST00000268489,NM_006885.3;ZFHX3,stop_gained,p.Trp1821Ter,ENST00000397992,NM_001164766.1;RP5-991G20.4,downstream_gene_variant,,ENST00000569195,;							HIGH	8205/11112	W2735*	ZFHX3_HUMAN			Transcript			.	ENSP00000268489		CCDS10908.1			1	
SHANK2	0	LGGM	GRCh37	11	70333542	70333542	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	28	3	.	.	ENST00000338508.4:c.2859C>A	p.Phe953Leu	p.F953L	ENST00000338508		953	ttC/ttA	0	1		UPI000198F7E4	0	NA	ENST00000423696		ENSG00000162105	14295		31	0		HGNC	p.F231L		SHANK2		SNV			1				ENST00000424924	protein_coding	getma.org/?cm=var&var=hg19,11,70333542,G,T&fts=all		hmmpanther:PTHR24135,hmmpanther:PTHR24135:SF17		F/L		T	neutral	1756/7884		getma.org/?cm=msa&ty=f&p=SHAN2_HUMAN&rb=448&re=1283&var=F573L	tolerated(0.11)					SHANK2,missense_variant,p.Phe953Leu,ENST00000338508,;SHANK2,missense_variant,p.Phe357Leu,ENST00000449833,NM_133266.3;SHANK2,missense_variant,p.Phe573Leu,ENST00000423696,;SHANK2,missense_variant,p.Phe356Leu,ENST00000409161,;SHANK2,missense_variant,p.Phe231Leu,ENST00000424924,;SHANK2,missense_variant,p.Phe576Leu,ENST00000294018,;SHANK2,intron_variant,,ENST00000412252,;SHANK2,downstream_gene_variant,,ENST00000409530,;SHANK2,downstream_gene_variant,,ENST00000449116,;SHANK2,downstream_gene_variant,,ENST00000357171,;SHANK2,downstream_gene_variant,,ENST00000426687,;							MODERATE	1719/4413	F573L	SHAN2_HUMAN			Transcript		benign(0)	.	ENSP00000394536					1	
RHOT2	0	LGGM	GRCh37	16	720351	720351	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	47	3	.	.	ENST00000315082.4:c.432C>A	p.Cys144Ter	p.C144*	ENST00000315082	NM_138769.2	144	tgC/tgA	0	1	1	UPI000007310B	0	NA	ENST00000315082		ENSG00000140983	21169		50	0		HGNC	p.C144X		RHOT2		SNV							ENST00000315082	protein_coding	getma.org/?cm=var&var=hg19,16,720351,C,A&fts=all		hmmpanther:PTHR24072:SF70,hmmpanther:PTHR24072,Gene3D:3.40.50.300,Pfam_domain:PF00071,SMART_domains:SM00174,PIRSF_domain:PIRSF037488,SMART_domains:SM00173,SMART_domains:SM00175,Superfamily_domains:SSF52540,Prints_domain:PR00449		C/*		A	NA	546/2539		NA					YES	RHOT2,stop_gained,p.Cys144Ter,ENST00000315082,NM_138769.2;RHOT2,stop_gained,p.Cys144Ter,ENST00000563134,;RHOT2,stop_gained,p.Cys123Ter,ENST00000561929,;WDR90,downstream_gene_variant,,ENST00000549091,NM_145294.4;WDR90,downstream_gene_variant,,ENST00000293879,;WDR90,downstream_gene_variant,,ENST00000547944,;WDR90,downstream_gene_variant,,ENST00000315764,;WDR90,downstream_gene_variant,,ENST00000551100,;RHOT2,upstream_gene_variant,,ENST00000569197,;WDR90,downstream_gene_variant,,ENST00000546896,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569943,;WDR90,downstream_gene_variant,,ENST00000547543,;RHOT2,3_prime_UTR_variant,,ENST00000562333,;RHOT2,3_prime_UTR_variant,,ENST00000561983,;RHOT2,3_prime_UTR_variant,,ENST00000563637,;RHOT2,3_prime_UTR_variant,,ENST00000570280,;RHOT2,3_prime_UTR_variant,,ENST00000566214,;RHOT2,non_coding_transcript_exon_variant,,ENST00000602564,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568636,;RHOT2,non_coding_transcript_exon_variant,,ENST00000569675,;RHOT2,non_coding_transcript_exon_variant,,ENST00000568950,;RHOT2,non_coding_transcript_exon_variant,,ENST00000567017,;RHOT2,non_coding_transcript_exon_variant,,ENST00000563776,;RHOT2,non_coding_transcript_exon_variant,,ENST00000566965,;RHOT2,non_coding_transcript_exon_variant,,ENST00000570092,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562708,;RHOT2,non_coding_transcript_exon_variant,,ENST00000562598,;WDR90,downstream_gene_variant,,ENST00000547407,;WDR90,downstream_gene_variant,,ENST00000552728,;WDR90,downstream_gene_variant,,ENST00000549024,;WDR90,downstream_gene_variant,,ENST00000553080,;RHOT2,upstream_gene_variant,,ENST00000569358,;RHOT2,upstream_gene_variant,,ENST00000565004,;RHOT2,upstream_gene_variant,,ENST00000564659,;RHOT2,upstream_gene_variant,,ENST00000561711,;RHOT2,downstream_gene_variant,,ENST00000569706,;RHOT2,upstream_gene_variant,,ENST00000567589,;RHOT2,upstream_gene_variant,,ENST00000562957,;WDR90,downstream_gene_variant,,ENST00000548448,;							HIGH	432/1857	C144*	MIRO2_HUMAN			Transcript			.	ENSP00000321971		CCDS10417.1			1	
FOXP3	0	LGGM	GRCh37	X	49107901	49107901	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	24	3	.	.	ENST00000376207.4:c.1190G>A	p.Arg397Gln	p.R397Q	ENST00000376207	NM_014009.3	397	cGg/cAg	0	1	1	UPI000012ADED	0	getma.org/pdb.php?prot=FOXP3_HUMAN&from=337&to=426&var=R397Q	ENST00000376207		ENSG00000049768	6106		27	3.28		HGNC	p.R422Q		FOXP3		SNV			1				ENST00000557224	protein_coding	getma.org/?cm=var&var=hg19,X,49107901,C,T&fts=all		PROSITE_profiles:PS50039,hmmpanther:PTHR11829:SF115,hmmpanther:PTHR11829,Pfam_domain:PF00250,Gene3D:1.10.10.10,SMART_domains:SM00339,Superfamily_domains:SSF46785,Prints_domain:PR00053		R/Q		T	medium	1378/2382		getma.org/?cm=msa&ty=f&p=FOXP3_HUMAN&rb=337&re=426&var=R397Q	deleterious(0.01)	B7ZLG1_HUMAN			YES	FOXP3,missense_variant,p.Arg397Gln,ENST00000376207,NM_014009.3;FOXP3,missense_variant,p.Arg362Gln,ENST00000376199,NM_001114377.1;FOXP3,missense_variant,p.Arg422Gln,ENST00000557224,;FOXP3,missense_variant,p.Arg407Gln,ENST00000376197,;FOXP3,missense_variant,p.Arg370Gln,ENST00000455775,;FOXP3,missense_variant,p.Arg362Gln,ENST00000518685,;CCDC22,downstream_gene_variant,,ENST00000376227,NM_014008.3;							MODERATE	1190/1296	R397Q	FOXP3_HUMAN			Transcript		probably_damaging(0.948)	.	ENSP00000365380		CCDS14323.1			1	
ANKRD11	0	LGGM	GRCh37	16	89383365	89383365	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	37	3	.	.	ENST00000301030.4:c.63G>T	p.Met21Ile	p.M21I	ENST00000301030	NM_001256183.1	21	atG/atT	0	1	1	UPI00004569E1	0	NA	ENST00000301030		ENSG00000167522	21316		40	1.79		HGNC	p.M21I		ANKRD11		SNV			1				ENST00000301030	protein_coding	getma.org/?cm=var&var=hg19,16,89383365,C,A&fts=all		hmmpanther:PTHR24145		M/I		A	low	524/9301		getma.org/?cm=msa&ty=f&p=ANR11_HUMAN&rb=1&re=143&var=M21I					YES	ANKRD11,missense_variant,p.Met21Ile,ENST00000301030,NM_001256183.1,NM_013275.5;ANKRD11,missense_variant,p.Met21Ile,ENST00000378330,NM_001256182.1;ANKRD11,missense_variant,p.Met21Ile,ENST00000563291,;AC137932.6,upstream_gene_variant,,ENST00000562995,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000567736,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000566858,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000562816,;ANKRD11,non_coding_transcript_exon_variant,,ENST00000567699,;ANKRD11,upstream_gene_variant,,ENST00000568924,;ANKRD11,missense_variant,p.Met21Ile,ENST00000330736,;ANKRD11,missense_variant,p.Met21Ile,ENST00000562275,;ANKRD11,missense_variant,p.Met21Ile,ENST00000378332,;ANKRD11,upstream_gene_variant,,ENST00000564553,;							MODERATE	63/7992	M21I	ANR11_HUMAN			Transcript		benign(0.38)	.	ENSP00000301030		CCDS32513.1			1	
EPOR	0	LGGM	GRCh37	19	11492763	11492763	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	15	3	.	.	ENST00000222139.6:c.270G>T	p.Leu90=	p.L90=	ENST00000222139	NM_000121.3	90	ctG/ctT	0	1	1	UPI000012A0AD	0		ENST00000222139		ENSG00000187266	3416		18			HGNC	p.L90L		EPOR		SNV			1				ENST00000222139	protein_coding			hmmpanther:PTHR23037:SF7,hmmpanther:PTHR23037,Pfam_domain:PF09067,Gene3D:2.60.40.10,PIRSF_domain:PIRSF001959,Superfamily_domains:SSF49265		L		A		375/2056				I6R7G3_HUMAN			YES	EPOR,synonymous_variant,p.=,ENST00000592375,;EPOR,synonymous_variant,p.=,ENST00000222139,NM_000121.3;EPOR,synonymous_variant,p.=,ENST00000591958,;EPOR,3_prime_UTR_variant,,ENST00000586890,;EPOR,3_prime_UTR_variant,,ENST00000588859,;EPOR,non_coding_transcript_exon_variant,,ENST00000588681,;EPOR,non_coding_transcript_exon_variant,,ENST00000589402,;RGL3,downstream_gene_variant,,ENST00000563726,;RGL3,downstream_gene_variant,,ENST00000562663,;EPOR,upstream_gene_variant,,ENST00000590927,;							LOW	270/1527		EPOR_HUMAN			Transcript			.	ENSP00000222139		CCDS12260.1			1	
TXK	0	LGGM	GRCh37	4	48116433	48116433	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	38	3	.	.	ENST00000264316.4:c.17-14G>T		*6*	ENST00000264316	NM_003328.2			0	1	1	UPI000013D4F9	0		ENST00000264316		ENSG00000074966	12434		41			HGNC	p.M1I	rs754923217	TXK		SNV							ENST00000506073	protein_coding							A		-/2914	3.03E-05			Q6LD14_HUMAN,Q6LD13_HUMAN,D6RA14_HUMAN			YES	TXK,start_lost,p.Met1?,ENST00000506073,;TXK,intron_variant,,ENST00000264316,NM_003328.2;TXK,intron_variant,,ENST00000510457,;							MODIFIER	-/1584		TXK_HUMAN			Transcript			.	ENSP00000264316	1.65E-05	CCDS3480.1			1	
TBX20	0	LGGM	GRCh37	7	35242284	35242284	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	20	3	.	.	ENST00000408931.3:c.1102C>A	p.Leu368Ile	p.L368I	ENST00000408931	NM_001077653.2	368	Ctt/Att	0	1	1	UPI00004B23D3	0	NA	ENST00000408931		ENSG00000164532	11598		23	-0.345		HGNC	p.L368I		TBX20		SNV			1				ENST00000408931	protein_coding	getma.org/?cm=var&var=hg19,7,35242284,G,T&fts=all		hmmpanther:PTHR11267		L/I		T	neutral	1629/1871		getma.org/?cm=msa&ty=f&p=TBX20_HUMAN&rb=325&re=445&var=L368I	tolerated_low_confidence(0.25)	C1INI6_HUMAN,C1INI5_HUMAN,C1INI4_HUMAN,C1INI3_HUMAN,C1INI2_HUMAN,C1INI1_HUMAN			YES	TBX20,missense_variant,p.Leu368Ile,ENST00000408931,NM_001077653.2,NM_001166220.1;							MODERATE	1102/1344	L368I	TBX20_HUMAN			Transcript		benign(0.001)	.	ENSP00000386170		CCDS43568.1			1	
ZC3H11A	0	LGGM	GRCh37	1	203821503	203821503	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	41	3	.	.	ENST00000545588.1:c.2409G>T	p.Glu803Asp	p.E803D	ENST00000545588	NM_001271675.1	803	gaG/gaT	0	1		UPI000006F3FD	0	NA	ENST00000332127		ENSG00000058673	29093		44	2.36		HGNC	p.E803D		ZC3H11A		SNV							ENST00000367214	protein_coding	getma.org/?cm=var&var=hg19,1,203821503,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR15725,hmmpanther:PTHR15725:SF2		E/D		T	medium	3266/5015		getma.org/?cm=msa&ty=f&p=ZC11A_HUMAN&rb=381&re=808&var=E803D	deleterious(0)	E9PBY7_HUMAN,C9J0L0_HUMAN,B4DLG2_HUMAN				ZC3H11A,missense_variant,p.Glu803Asp,ENST00000545588,NM_001271675.1;ZC3H11A,missense_variant,p.Glu803Asp,ENST00000332127,;ZC3H11A,missense_variant,p.Glu803Asp,ENST00000367210,;ZC3H11A,missense_variant,p.Glu803Asp,ENST00000367214,;ZC3H11A,missense_variant,p.Glu803Asp,ENST00000367212,NM_014827.4;ZC3H11A,downstream_gene_variant,,ENST00000453771,;ZC3H11A,downstream_gene_variant,,ENST00000488411,;ZC3H11A,3_prime_UTR_variant,,ENST00000495527,;							MODERATE	2409/2433	E803D	ZC11A_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000333253		CCDS30978.1			1	
TP53I13	0	LGGM	GRCh37	17	27896360	27896360	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	12	3	.	.	ENST00000301057.7:c.166C>A	p.Arg56=	p.R56=	ENST00000301057	NM_138349.2	56	Cga/Aga	0	1	1	UPI000003B08D	0		ENST00000301057		ENSG00000167543	25102		15			HGNC	p.R31R		TP53I13		SNV							ENST00000581411	protein_coding					R		A		281/1530				K7ERH9_HUMAN,K7ELD4_HUMAN,K7EKX3_HUMAN,K7EJC6_HUMAN,J3KSX2_HUMAN			YES	TP53I13,synonymous_variant,p.=,ENST00000301057,NM_138349.2;TP53I13,synonymous_variant,p.=,ENST00000578749,;TP53I13,synonymous_variant,p.=,ENST00000581411,;TP53I13,synonymous_variant,p.=,ENST00000580183,;TP53I13,synonymous_variant,p.=,ENST00000582829,;TP53I13,synonymous_variant,p.=,ENST00000583940,;GIT1,downstream_gene_variant,,ENST00000225394,NM_014030.3;GIT1,downstream_gene_variant,,ENST00000394869,NM_001085454.1;ABHD15,upstream_gene_variant,,ENST00000307201,NM_198147.2;GIT1,downstream_gene_variant,,ENST00000581348,;TP53I13,upstream_gene_variant,,ENST00000378818,;RP11-68I3.2,intron_variant,,ENST00000581474,;RP11-68I3.4,upstream_gene_variant,,ENST00000579050,;TP53I13,downstream_gene_variant,,ENST00000584522,;TP53I13,downstream_gene_variant,,ENST00000578073,;TP53I13,synonymous_variant,p.=,ENST00000577934,;TP53I13,non_coding_transcript_exon_variant,,ENST00000580132,;GIT1,downstream_gene_variant,,ENST00000473217,;TP53I13,upstream_gene_variant,,ENST00000579674,;							LOW	166/1182		P5I13_HUMAN			Transcript			.	ENSP00000301057		CCDS42289.1			1	
FBLN1	0	LGGM	GRCh37	22	45923757	45923757	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	17	3	.	.	ENST00000327858.6:c.352G>A	p.Ala118Thr	p.A118T	ENST00000327858	NM_006486.2	118	Gcg/Acg	0	1	1	UPI00001AE84C	0	NA	ENST00000327858		ENSG00000077942	3600		20	0.77		HGNC	p.A156T		FBLN1		SNV			1				ENST00000402984	protein_coding	getma.org/?cm=var&var=hg19,22,45923757,G,A&fts=all		PROSITE_profiles:PS01178,hmmpanther:PTHR24048,hmmpanther:PTHR24048:SF70,PROSITE_patterns:PS01177,Pfam_domain:PF01821,SMART_domains:SM00104,PIRSF_domain:PIRSF036313		A/T		A	neutral	447/2896		getma.org/?cm=msa&ty=f&p=FBLN1_HUMAN&rb=112&re=144&var=A118T	tolerated(0.4)	B1AHM7_HUMAN,B1AHM6_HUMAN,B1AHM5_HUMAN			YES	FBLN1,missense_variant,p.Ala118Thr,ENST00000348697,;FBLN1,missense_variant,p.Ala118Thr,ENST00000327858,NM_006486.2;FBLN1,missense_variant,p.Ala118Thr,ENST00000442170,NM_006485.3;FBLN1,missense_variant,p.Ala156Thr,ENST00000402984,;FBLN1,missense_variant,p.Ala118Thr,ENST00000340923,NM_006487.2;FBLN1,missense_variant,p.Ala118Thr,ENST00000262722,NM_001996.3;FBLN1,missense_variant,p.Ala118Thr,ENST00000455233,;FBLN1,missense_variant,p.Ala126Thr,ENST00000411478,;FBLN1,missense_variant,p.Ala76Thr,ENST00000454279,;FBLN1,missense_variant,p.Ala58Thr,ENST00000451475,;FBLN1,downstream_gene_variant,,ENST00000439835,;FBLN1,downstream_gene_variant,,ENST00000445110,;FBLN1,missense_variant,p.Ala13Thr,ENST00000437711,;							MODERATE	352/2112	A118T	FBLN1_HUMAN			Transcript		benign(0.033)	.	ENSP00000331544		CCDS14067.1			1	
PROSER1	0	LGGM	GRCh37	13	39597214	39597214	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	37	3	.	.	ENST00000352251.3:c.618C>T	p.Cys206=	p.C206=	ENST00000352251	NM_025138.4	206	tgC/tgT	0	1	1	UPI00001FCC65	0		ENST00000352251		ENSG00000120685	20291		40			HGNC	p.C184C		PROSER1		SNV							ENST00000350125	protein_coding			hmmpanther:PTHR14880,hmmpanther:PTHR14880:SF2		C		A		1452/5168							YES	PROSER1,synonymous_variant,p.=,ENST00000352251,NM_025138.4;PROSER1,synonymous_variant,p.=,ENST00000350125,;PROSER1,intron_variant,,ENST00000484434,;PROSER1,non_coding_transcript_exon_variant,,ENST00000496138,;PROSER1,upstream_gene_variant,,ENST00000602512,;PROSER1,downstream_gene_variant,,ENST00000436678,;							LOW	618/2835		PRSR1_HUMAN			Transcript			.	ENSP00000332034		CCDS9368.2			1	
MYCBP2	0	LGGM	GRCh37	13	77818001	77818001	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	44	3	.	.	ENST00000544440.2:c.2353G>T	p.Ala785Ser	p.A785S	ENST00000544440		785	Gca/Tca	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		47	1.59		HGNC	p.A823S		MYCBP2		SNV							ENST00000407578	protein_coding	getma.org/?cm=var&var=hg19,13,77818001,C,A&fts=all		hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		A/S		A	low	2446/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=685&re=874&var=A785S						MYCBP2,missense_variant,p.Ala823Ser,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Ala785Ser,ENST00000357337,;MYCBP2,missense_variant,p.Ala785Ser,ENST00000544440,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;							MODERATE	2353/13923	A785S	MYCB2_HUMAN			Transcript		possibly_damaging(0.868)	.	ENSP00000349892					1	
ZNF711	0	LGGM	GRCh37	X	84526335	84526335	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	22	4	.	.	ENST00000373165.3:c.1787A>T	p.Asp596Val	p.D596V	ENST00000373165	NM_021998.4	596	gAc/gTc	0	1		UPI0000212114	0	NA	ENST00000276123		ENSG00000147180	13128		26	2.72		HGNC	p.D596V		ZNF711		SNV			1				ENST00000373165	protein_coding	getma.org/?cm=var&var=hg19,X,84526335,A,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24387,hmmpanther:PTHR24387:SF1,SMART_domains:SM00355,Superfamily_domains:SSF57667		D/V		T	medium	2295/2887		getma.org/?cm=msa&ty=f&p=ZN711_HUMAN&rb=574&re=603&var=D596V	deleterious(0)	B4DS73_HUMAN				ZNF711,missense_variant,p.Asp642Val,ENST00000360700,;ZNF711,missense_variant,p.Asp604Val,ENST00000395402,;ZNF711,missense_variant,p.Asp596Val,ENST00000373165,NM_021998.4;ZNF711,missense_variant,p.Asp596Val,ENST00000276123,;ZNF711,missense_variant,p.Asp438Val,ENST00000542798,;							MODERATE	1787/2286	D596V	ZN711_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000276123		CCDS35344.1			1	
TMTC1	0	LGGM	GRCh37	12	29920952	29920952	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	28	4	.	.	ENST00000539277.1:c.359T>A	p.Ile120Asn	p.I120N	ENST00000539277	NM_001193451.1	120	aTt/aAt	0	1	1	UPI0001DD37FA	0	NA	ENST00000539277		ENSG00000133687	24099		32	2.3		HGNC	p.I12N		TMTC1		SNV							ENST00000256062	protein_coding	getma.org/?cm=var&var=hg19,12,29920952,A,T&fts=all		Transmembrane_helices:TMhelix,hmmpanther:PTHR23083,hmmpanther:PTHR23083:SF353		I/N		T	medium	418/2758		getma.org/?cm=msa&ty=f&p=TMTC1_HUMAN&rb=76&re=193&var=I120N	deleterious(0.01)	B3KVW1_HUMAN			YES	TMTC1,missense_variant,p.Ile12Asn,ENST00000256062,NM_175861.3;TMTC1,missense_variant,p.Ile120Asn,ENST00000551659,;TMTC1,missense_variant,p.Ile120Asn,ENST00000552618,;TMTC1,missense_variant,p.Ile120Asn,ENST00000539277,NM_001193451.1;TMTC1,missense_variant,p.Ile12Asn,ENST00000381224,;TMTC1,non_coding_transcript_exon_variant,,ENST00000553189,;							MODERATE	359/2649	I120N	TMTC1_HUMAN			Transcript		benign(0.278)	.	ENSP00000442046		CCDS53772.1			1	
MYO3A	0	LGGM	GRCh37	10	26359139	26359139	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	36	4	.	.	ENST00000265944.5:c.1270G>T	p.Asp424Tyr	p.D424Y	ENST00000265944	NM_017433.4	424	Gat/Tat	0	1	1	UPI000014140A	0	getma.org/pdb.php?prot=MYO3A_HUMAN&from=340&to=1041&var=D424Y	ENST00000265944		ENSG00000095777	7601		40	3.71		HGNC	p.D424Y		MYO3A		SNV			1				ENST00000543632	protein_coding	getma.org/?cm=var&var=hg19,10,26359139,G,T&fts=all		Prints_domain:PR00193,Superfamily_domains:SSF52540,SMART_domains:SM00242,Pfam_domain:PF00063,hmmpanther:PTHR13140:SF348,hmmpanther:PTHR13140,PROSITE_profiles:PS51456		D/Y		T	high	1436/5581		getma.org/?cm=msa&ty=f&p=MYO3A_HUMAN&rb=340&re=1041&var=D424Y	deleterious(0)				YES	MYO3A,missense_variant,p.Asp424Tyr,ENST00000265944,NM_017433.4;MYO3A,missense_variant,p.Asp424Tyr,ENST00000543632,;							MODERATE	1270/4851	D424Y	MYO3A_HUMAN			Transcript		probably_damaging(0.985)	.	ENSP00000265944		CCDS7148.1			1	
SKIV2L2	0	LGGM	GRCh37	5	54706390	54706390	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	48	4	.	.	ENST00000230640.5:c.2684G>A	p.Gly895Asp	p.G895D	ENST00000230640	NM_015360.4	895	gGc/gAc	0	1	1	UPI000020C772	0	getma.org/pdb.php?prot=SK2L2_HUMAN&from=864&to=1042&var=G895D	ENST00000230640		ENSG00000039123	18734		52	3.59		HGNC	p.G794D		SKIV2L2		SNV							ENST00000545714	protein_coding	getma.org/?cm=var&var=hg19,5,54706390,G,A&fts=all		hmmpanther:PTHR11752,hmmpanther:PTHR11752:SF54,Pfam_domain:PF08148,PIRSF_domain:PIRSF005198		G/D		A	high	2938/4192		getma.org/?cm=msa&ty=f&p=SK2L2_HUMAN&rb=864&re=1042&var=G895D	deleterious(0.01)				YES	SKIV2L2,missense_variant,p.Gly895Asp,ENST00000230640,NM_015360.4;SKIV2L2,missense_variant,p.Gly794Asp,ENST00000545714,;SKIV2L2,3_prime_UTR_variant,,ENST00000506750,;SKIV2L2,non_coding_transcript_exon_variant,,ENST00000518955,;							MODERATE	2684/3129	G895D	SK2L2_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000230640		CCDS3967.1			1	
OR8J3	0	LGGM	GRCh37	11	55905105	55905105	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	79	4	.	.	ENST00000301529.1:c.90C>A	p.Val30=	p.V30=	ENST00000301529	NM_001004064.1	30	gtC/gtA	0	1	1	UPI0000061E99	0		ENST00000301529		ENSG00000167822	15312		83			HGNC	p.V30V		OR8J3		SNV							ENST00000301529	protein_coding			Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26452,hmmpanther:PTHR26452:SF209,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		V		T		90/948							YES	OR8J3,synonymous_variant,p.=,ENST00000301529,NM_001004064.1;OR8K4P,downstream_gene_variant,,ENST00000534608,;OR5BN1P,upstream_gene_variant,,ENST00000532955,;							LOW	90/948		OR8J3_HUMAN			Transcript			.	ENSP00000301529		CCDS31520.1			1	
WSB2	0	LGGM	GRCh37	12	118472151	118472151	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	83	4	.	.	ENST00000315436.3:c.1065C>T	p.Gly355=	p.G355=	ENST00000315436	NM_018639.4	355	ggC/ggT	0	1	1	UPI0000031565	0		ENST00000315436		ENSG00000176871	19222		87			HGNC	p.G355G		WSB2		SNV							ENST00000315436	protein_coding			hmmpanther:PTHR15622,hmmpanther:PTHR15622:SF1,Gene3D:2.130.10.10,Pfam_domain:PF00400,SMART_domains:SM00320,Superfamily_domains:SSF50978		G		A		1207/2646				B4DPV6_HUMAN,B4DFS1_HUMAN			YES	WSB2,synonymous_variant,p.=,ENST00000315436,NM_018639.4;WSB2,synonymous_variant,p.=,ENST00000542304,;WSB2,synonymous_variant,p.=,ENST00000441406,NM_001278557.1;WSB2,synonymous_variant,p.=,ENST00000535496,;WSB2,synonymous_variant,p.=,ENST00000544233,NM_001278558.1;RFC5,downstream_gene_variant,,ENST00000392542,NM_181578.3;RFC5,downstream_gene_variant,,ENST00000229043,NM_001130112.2;RFC5,downstream_gene_variant,,ENST00000454402,NM_007370.5,NM_001206801.1;WSB2,downstream_gene_variant,,ENST00000537945,;RFC5,downstream_gene_variant,,ENST00000543153,;WSB2,downstream_gene_variant,,ENST00000536738,;WSB2,3_prime_UTR_variant,,ENST00000543218,;WSB2,downstream_gene_variant,,ENST00000540129,;WSB2,downstream_gene_variant,,ENST00000543186,;							LOW	1065/1215		WSB2_HUMAN			Transcript			.	ENSP00000319474		CCDS9186.1			1	
CNNM1	0	LGGM	GRCh37	10	101090521	101090521	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	64	4	.	.	ENST00000356713.4:c.1377C>T	p.Ser459=	p.S459=	ENST00000356713	NM_020348.2	459	agC/agT	0	1	1	UPI0000E19A44	0		ENST00000356713		ENSG00000119946	102		68			HGNC	p.S459S		CNNM1		SNV							ENST00000356713	protein_coding			Gene3D:3.10.580.10,PROSITE_profiles:PS51371,hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF28,Superfamily_domains:SSF54631		S		T		1666/5959				F2YHU6_HUMAN,B3KPD2_HUMAN			YES	CNNM1,synonymous_variant,p.=,ENST00000356713,NM_020348.2;CNNM1,synonymous_variant,p.=,ENST00000446890,;CNNM1,synonymous_variant,p.=,ENST00000370528,;CNNM1,synonymous_variant,p.=,ENST00000370534,;							LOW	1377/2856		CNNM1_HUMAN			Transcript			.	ENSP00000349147		CCDS7478.2			1	
MAP4	0	LGGM	GRCh37	3	47958599	47958599	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	88	5	.	.	ENST00000360240.6:c.718G>A	p.Glu240Lys	p.E240K	ENST00000360240	NM_002375.4	240	Gaa/Aaa	0	1	1	UPI000020A6A4	0	NA	ENST00000360240		ENSG00000047849	6862		93	2.175		HGNC	p.E257K		MAP4		SNV							ENST00000426837	protein_coding	getma.org/?cm=var&var=hg19,3,47958599,C,T&fts=all		hmmpanther:PTHR11501,hmmpanther:PTHR11501:SF16		E/K		T	medium	1237/5142		getma.org/?cm=msa&ty=f&p=MAP4_HUMAN&rb=1&re=470&var=E240K	deleterious(0.02)				YES	MAP4,missense_variant,p.Glu257Lys,ENST00000426837,;MAP4,missense_variant,p.Glu240Lys,ENST00000395734,NM_001134364.1;MAP4,missense_variant,p.Glu240Lys,ENST00000383737,;MAP4,missense_variant,p.Glu240Lys,ENST00000360240,NM_002375.4;MAP4,missense_variant,p.Glu209Lys,ENST00000423088,;MAP4,intron_variant,,ENST00000482752,;							MODERATE	718/3459	E240K	MAP4_HUMAN			Transcript		benign(0.11)	.	ENSP00000353375		CCDS33750.1			1	
IPO5	0	LGGM	GRCh37	13	98655002	98655002	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	91	6	.	.	ENST00000261574.5:c.1352G>A	p.Gly451Asp	p.G451D	ENST00000261574	NM_002271.4	451	gGt/gAt	0	1		UPI0000000DBE	0	NA	ENST00000357602		ENSG00000065150	6402		97	-0.695		HGNC	p.G433D	rs770812849	IPO5		SNV							ENST00000490680	protein_coding	getma.org/?cm=var&var=hg19,13,98655002,G,A&fts=all		Gene3D:1.25.10.10,Pfam_domain:PF13646,hmmpanther:PTHR10527,hmmpanther:PTHR10527:SF22,Superfamily_domains:SSF48371		G/D		A	neutral	1672/4335	1.51E-05	getma.org/?cm=msa&ty=f&p=IPO5_HUMAN&rb=431&re=630&var=G433D	tolerated(0.62)	Q9BVS9_HUMAN,E7ETV3_HUMAN,C9JZD8_HUMAN,C9JZ53_HUMAN,B3KWG6_HUMAN				IPO5,missense_variant,p.Gly451Asp,ENST00000261574,NM_002271.4;IPO5,missense_variant,p.Gly433Asp,ENST00000357602,;IPO5,missense_variant,p.Gly435Asp,ENST00000469360,;IPO5,missense_variant,p.Gly433Asp,ENST00000490680,;IPO5,missense_variant,p.Gly308Asp,ENST00000539640,;IPO5,upstream_gene_variant,,ENST00000493492,;IPO5,non_coding_transcript_exon_variant,,ENST00000491555,;IPO5,non_coding_transcript_exon_variant,,ENST00000479736,;IPO5,downstream_gene_variant,,ENST00000470493,;							MODERATE	1298/3294	G433D	IPO5_HUMAN			Transcript		benign(0.001)	.	ENSP00000350219	8.24E-06				1	
TRIB1	0	LGGM	GRCh37	8	126448573	126448573	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	44	7	.	.	ENST00000311922.3:c.979C>T	p.Leu327Phe	p.L327F	ENST00000311922	NM_025195.2	327	Ctc/Ttc	0	1	1	UPI00000717B2	0	getma.org/pdb.php?prot=TRIB1_HUMAN&from=105&to=338&var=L327F	ENST00000311922		ENSG00000173334	16891		51	2.06		HGNC	p.L96F		TRIB1		SNV							ENST00000519576	protein_coding	getma.org/?cm=var&var=hg19,8,126448573,C,T&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,PROSITE_profiles:PS50011,hmmpanther:PTHR22961,hmmpanther:PTHR22961:SF10,Low_complexity_(Seg):seg,SMART_domains:SM00220,Superfamily_domains:SSF56112		L/F		T	medium	1561/3635		getma.org/?cm=msa&ty=f&p=TRIB1_HUMAN&rb=105&re=338&var=L327F	deleterious(0)	E5RFH4_HUMAN,B4DMM6_HUMAN			YES	TRIB1,missense_variant,p.Leu327Phe,ENST00000311922,NM_025195.2;TRIB1,missense_variant,p.Leu96Phe,ENST00000519576,;TRIB1,missense_variant,p.Leu161Phe,ENST00000520847,NM_001282985.1;TRIB1,downstream_gene_variant,,ENST00000521778,;							MODERATE	979/1119	L327F	TRIB1_HUMAN			Transcript		possibly_damaging(0.771)	.	ENSP00000312150		CCDS6357.1			1	
HOXB1	0	LGGM	GRCh37	17	46608057	46608057	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	30	7	.	.	ENST00000239174.6:c.210G>T	p.Ser70=	p.S70=	ENST00000239174	NM_002144.3	70	tcG/tcT	0	1	1	UPI0000163BFF	0		ENST00000239174		ENSG00000120094	5111		37			HGNC	p.S70S		HOXB1		SNV			1				ENST00000239174	protein_coding			hmmpanther:PTHR24326,hmmpanther:PTHR24326:SF167		S		A		303/2020							YES	HOXB1,synonymous_variant,p.=,ENST00000239174,NM_002144.3;HOXB1,synonymous_variant,p.=,ENST00000577092,;							LOW	210/906		HXB1_HUMAN			Transcript			.	ENSP00000355140		CCDS32675.1			1	
TNC	0	LGGM	GRCh37	9	117835890	117835890	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	16	7	.	.	ENST00000350763.4:c.3206C>T	p.Ala1069Val	p.A1069V	ENST00000350763	NM_002160.3	1069	gCa/gTa	0	1	1	UPI000013D5BD	0	getma.org/pdb.php?prot=TENA_HUMAN&from=984&to=1071&var=A1069V	ENST00000350763		ENSG00000041982	5318		23	1.685		HGNC	p.A1069V		TNC		SNV			1				ENST00000346706	protein_coding	getma.org/?cm=var&var=hg19,9,117835890,G,A&fts=all		Gene3D:2.60.40.10,PROSITE_profiles:PS50853,hmmpanther:PTHR19143,hmmpanther:PTHR19143:SF38		A/V		A	low	3618/7641		getma.org/?cm=msa&ty=f&p=TENA_HUMAN&rb=984&re=1071&var=A1069V	deleterious(0)	F5H5D6_HUMAN			YES	TNC,missense_variant,p.Ala1069Val,ENST00000350763,NM_002160.3;TNC,missense_variant,p.Ala1069Val,ENST00000341037,;TNC,missense_variant,p.Ala1069Val,ENST00000340094,;TNC,missense_variant,p.Ala1069Val,ENST00000423613,;TNC,missense_variant,p.Ala1069Val,ENST00000535648,;TNC,missense_variant,p.Ala1069Val,ENST00000346706,;TNC,missense_variant,p.Ala1069Val,ENST00000345230,;TNC,missense_variant,p.Ala1069Val,ENST00000542877,;TNC,missense_variant,p.Ala1069Val,ENST00000537320,;TNC,non_coding_transcript_exon_variant,,ENST00000498724,;TNC,non_coding_transcript_exon_variant,,ENST00000473855,;							MODERATE	3206/6606	A1069V	TENA_HUMAN			Transcript		benign(0.24)	.	ENSP00000265131		CCDS6811.1			1	
GRIA1	0	LGGM	GRCh37	5	153065889	153065889	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	26	7	.	.	ENST00000518783.1:c.1164G>T	p.Lys388Asn	p.K388N	ENST00000518783	NM_001258021.1	388	aaG/aaT	0	1		UPI000013DE17	0	getma.org/pdb.php?prot=GRIA1_HUMAN&from=373&to=417&var=K378N	ENST00000285900		ENSG00000155511	4571		33	2.915		HGNC	p.K309N		GRIA1		SNV							ENST00000521843	protein_coding	getma.org/?cm=var&var=hg19,5,153065889,G,T&fts=all		Gene3D:3.40.190.10,hmmpanther:PTHR18966,hmmpanther:PTHR18966:SF157,Superfamily_domains:SSF53822		K/N		T	medium	1477/5708		getma.org/?cm=msa&ty=f&p=GRIA1_HUMAN&rb=373&re=417&var=K378N	deleterious(0)					GRIA1,missense_variant,p.Lys378Asn,ENST00000285900,NM_000827.3,NM_001258019.1;GRIA1,missense_variant,p.Lys388Asn,ENST00000518783,NM_001258021.1;GRIA1,missense_variant,p.Lys378Asn,ENST00000340592,NM_001258020.1,NM_001114183.1;GRIA1,missense_variant,p.Lys309Asn,ENST00000521843,NM_001258023.1;GRIA1,missense_variant,p.Lys388Asn,ENST00000448073,NM_001258022.1;GRIA1,missense_variant,p.Lys298Asn,ENST00000518142,;GRIA1,splice_region_variant,,ENST00000481559,;							MODERATE	1134/2721	K378N	GRIA1_HUMAN			Transcript		possibly_damaging(0.747)	.	ENSP00000285900		CCDS4322.1			1	
SLCO4A1	0	LGGM	GRCh37	20	61296365	61296365	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	55	7	.	.	ENST00000217159.1:c.1201G>A	p.Gly401Ser	p.G401S	ENST00000217159	NM_016354.3	401	Ggc/Agc	0	1	1	UPI00000557C6	0	NA	ENST00000217159		ENSG00000101187	10953		62	2.65		HGNC	p.G401S	rs750142789	SLCO4A1		SNV							ENST00000217159	protein_coding	getma.org/?cm=var&var=hg19,20,61296365,G,A&fts=all		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		G/S		A	medium	1406/2776	3.01E-05	getma.org/?cm=msa&ty=f&p=SO4A1_HUMAN&rb=102&re=664&var=G401S	deleterious(0.03)				YES	SLCO4A1,missense_variant,p.Gly401Ser,ENST00000217159,NM_016354.3;SLCO4A1,missense_variant,p.Gly401Ser,ENST00000370507,;SLCO4A1,upstream_gene_variant,,ENST00000451793,;RP11-93B14.5,non_coding_transcript_exon_variant,,ENST00000433126,;RP11-93B14.5,intron_variant,,ENST00000411824,;RP11-93B14.5,intron_variant,,ENST00000451648,;SLCO4A1,upstream_gene_variant,,ENST00000470412,;SLCO4A1,upstream_gene_variant,,ENST00000466961,;SLCO4A1,upstream_gene_variant,,ENST00000466818,;SLCO4A1,upstream_gene_variant,,ENST00000495889,;SLCO4A1,upstream_gene_variant,,ENST00000497919,;SLCO4A1,missense_variant,p.Gly401Ser,ENST00000497209,;							MODERATE	1201/2169	G401S	SO4A1_HUMAN			Transcript		probably_damaging(0.927)	.	ENSP00000217159	1.65E-05	CCDS13501.1			1	
ABI3BP	0	LGGM	GRCh37	3	100529286	100529286	+	intron_variant	Intron	SNP	G	G	C	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	28	7	.	.	ENST00000284322.5:c.1598-2207C>G		*533*	ENST00000284322	NM_015429.3			0	1	1	UPI000011C136	0		ENST00000284322		ENSG00000154175	17265		35			HGNC	p.P477A		ABI3BP		SNV							ENST00000383691	protein_coding							C		-/4498							YES	ABI3BP,missense_variant,p.Pro1200Ala,ENST00000471714,;ABI3BP,missense_variant,p.Pro477Ala,ENST00000383691,;ABI3BP,missense_variant,p.Pro579Ala,ENST00000495591,;ABI3BP,missense_variant,p.Pro72Ala,ENST00000482765,;ABI3BP,missense_variant,p.Pro29Ala,ENST00000527943,;ABI3BP,intron_variant,,ENST00000284322,NM_015429.3;ABI3BP,intron_variant,,ENST00000471901,;ABI3BP,intron_variant,,ENST00000533795,;ABI3BP,intron_variant,,ENST00000478235,;ABI3BP,intron_variant,,ENST00000466947,;ABI3BP,downstream_gene_variant,,ENST00000528305,;ABI3BP,intron_variant,,ENST00000470336,;ABI3BP,intron_variant,,ENST00000487012,;							MODIFIER	-/3228		TARSH_HUMAN			Transcript			.	ENSP00000284322		CCDS46880.1			1	
HOXA11	0	LGGM	GRCh37	7	27224467	27224475	+	inframe_deletion	In_Frame_Del	DEL	CGCGCTGGG	CGCGCTGGG	-	novel	by Submitter	H112665	H112665N.bam	CGCGCTGGG	CGCGCTGGG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	15	8	.	.	ENST00000006015.3:c.289_297del	p.Pro97_Ala99del	p.P97_A99del	ENST00000006015	NM_005523.5	97	CCCAGCGCG/-	0	1	1	UPI000000D992	0		ENST00000006015		ENSG00000005073	5101	8.71E-05	23			HGNC	p.97_99del	rs577175554	HOXA11		deletion			1				ENST00000006015	protein_coding		-:0	Pfam_domain:PF12045,hmmpanther:PTHR24326:SF50,hmmpanther:PTHR24326		PSA/-		-		361-369/2295					-:0	-:0.0079	YES	HOXA11,inframe_deletion,p.Pro97_Ala99del,ENST00000006015,NM_005523.5;HOXA11,inframe_deletion,p.Pro67_Ala69del,ENST00000517402,;HOXA10,upstream_gene_variant,,ENST00000396344,;RP1-170O19.20,upstream_gene_variant,,ENST00000470747,;RP1-170O19.14,downstream_gene_variant,,ENST00000523331,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000522863,;HOXA11-AS,non_coding_transcript_exon_variant,,ENST00000520360,;HOXA11-AS,upstream_gene_variant,,ENST00000522674,;HOXA11-AS,upstream_gene_variant,,ENST00000520395,;HOXA11-AS,upstream_gene_variant,,ENST00000479766,;	0.0114	-:0.0016					MODERATE	289-297/942		HXA11_HUMAN		-:0	Transcript			common_variant	ENSP00000006015	0.000816	CCDS5411.1	0.00112	-:0	1	
MEFV	0	LGGM	GRCh37	16	3299469	3299469	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	12	8	.	.	ENST00000219596.1:c.1222C>T	p.Arg408Trp	p.R408W	ENST00000219596	NM_000243.2	408	Cgg/Tgg	0	1	1	UPI000004C0CA	0	getma.org/pdb.php?prot=MEFV_HUMAN&from=370&to=412&var=R408W	ENST00000219596		ENSG00000103313	6998		20	2.535		HGNC	p.R197W	rs758868622,COSM1470842,COSM1470843	MEFV		SNV			1			0,1,1	ENST00000536980	protein_coding	getma.org/?cm=var&var=hg19,16,3299469,G,A&fts=all		PROSITE_profiles:PS50119,hmmpanther:PTHR24103:SF264,hmmpanther:PTHR24103,Pfam_domain:PF00643,Gene3D:1freA00,SMART_domains:SM00336,Superfamily_domains:SSF57845		R/W		A	medium	1262/3499	1.52E-05	getma.org/?cm=msa&ty=f&p=MEFV_HUMAN&rb=370&re=412&var=R408W	tolerated(0.16)				YES	MEFV,missense_variant,p.Arg408Trp,ENST00000219596,NM_000243.2;MEFV,missense_variant,p.Arg228Trp,ENST00000339854,;MEFV,missense_variant,p.Arg197Trp,ENST00000541159,NM_001198536.1;MEFV,missense_variant,p.Arg197Trp,ENST00000536379,;MEFV,missense_variant,p.Arg439Trp,ENST00000542898,;MEFV,missense_variant,p.Arg408Trp,ENST00000537682,;MEFV,missense_variant,p.Arg408Trp,ENST00000538326,;MEFV,missense_variant,p.Arg197Trp,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,;					0,1,1		MODERATE	1222/2346	R408W	MEFV_HUMAN			Transcript		benign(0.006)	.	ENSP00000219596	8.24E-06	CCDS10498.1			1	
MYH6	0	LGGM	GRCh37	14	23868248	23868248	+	splice_acceptor_variant	Splice_Site	SNP	T	T	A	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	36	9	.	.	ENST00000405093.3:c.1582-2A>T		p.X528_splice	ENST00000405093	NM_002471.3			0	1		UPI0000160969	0		ENST00000356287		ENSG00000197616	7576		45			HGNC	-		MYH6		SNV			1				ENST00000405093	protein_coding							A		-/5871				Q9UQV1_HUMAN,A8CLL2_HUMAN				MYH6,splice_acceptor_variant,,ENST00000405093,NM_002471.3;MYH6,splice_acceptor_variant,,ENST00000356287,;MYH6,downstream_gene_variant,,ENST00000557461,;							HIGH	1582/5820		MYH6_HUMAN			Transcript			.	ENSP00000348634		CCDS9600.1			1	
PAX1	0	LGGM	GRCh37	20	21689937	21689937	+	stop_gained	Nonsense_Mutation	SNP	C	C	G	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	33	9	.	.	ENST00000398485.2:c.1137C>G	p.Tyr379Ter	p.Y379*	ENST00000398485	NM_006192.4	379	taC/taG	0	1	1	UPI000179A786	0	NA	ENST00000398485		ENSG00000125813	8615		42	0		HGNC	p.Y379X		PAX1		SNV			1				ENST00000398485	protein_coding	getma.org/?cm=var&var=hg19,20,21689937,C,G&fts=all		hmmpanther:PTHR24329,hmmpanther:PTHR24329:SF262		Y/*		G	NA	1191/2838		NA					YES	PAX1,stop_gained,p.Tyr379Ter,ENST00000398485,NM_006192.4,NM_001257096.1;PAX1,stop_gained,p.Tyr355Ter,ENST00000444366,;PAX1,non_coding_transcript_exon_variant,,ENST00000460221,;PAX1,downstream_gene_variant,,ENST00000485038,;							HIGH	1137/1605	Y379*	PAX1_HUMAN			Transcript			.	ENSP00000381499		CCDS13146.2			1	
OR8S1	0	LGGM	GRCh37	12	48919524	48919524	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	79	10	.	.	ENST00000310194.1:c.110T>C	p.Leu37Pro	p.L37P	ENST00000310194	NM_001005203.2	37	cTg/cCg	0	1	1	UPI000013EFC1	0	getma.org/pdb.php?prot=OR8S1_HUMAN&from=1&to=138&var=L37P	ENST00000310194		ENSG00000197376	19628		89	3.655		HGNC	p.L37P		OR8S1		SNV							ENST00000310194	protein_coding	getma.org/?cm=var&var=hg19,12,48919524,T,C&fts=all		Gene3D:1.20.1070.10,Prints_domain:PR00237,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF239,Low_complexity_(Seg):seg,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		L/P		C	high	110/1080		getma.org/?cm=msa&ty=f&p=OR8S1_HUMAN&rb=1&re=138&var=L37P	deleterious(0)				YES	OR8S1,missense_variant,p.Leu37Pro,ENST00000310194,NM_001005203.2;OR8S1,intron_variant,,ENST00000551654,;							MODERATE	110/1080	L37P	OR8S1_HUMAN			Transcript		benign(0.151)	.	ENSP00000310632		CCDS31789.1			1	
APOB	0	LGGM	GRCh37	2	21225238	21225238	+	synonymous_variant	Silent	SNP	T	T	A	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	37	11	.	.	ENST00000233242.1:c.13056A>T	p.Leu4352=	p.L4352=	ENST00000233242	NM_000384.2	4352	ctA/ctT	0	1	1	UPI0000141B94	0		ENST00000233242		ENSG00000084674	603		48			HGNC	p.L4352L		APOB		SNV			1				ENST00000233242	protein_coding			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1,Superfamily_domains:SSF48371		L		A		13184/14121				S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,synonymous_variant,p.=,ENST00000233242,NM_000384.2;RP11-116D2.1,upstream_gene_variant,,ENST00000567376,;							LOW	13056/13692		APOB_HUMAN			Transcript			.	ENSP00000233242		CCDS1703.1			1	
MAP1LC3C	0	LGGM	GRCh37	1	242159672	242159672	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	37	11	.	.	ENST00000357246.3:c.237G>T	p.Leu79=	p.L79=	ENST00000357246	NM_001004343.2	79	ctG/ctT	0	1	1	UPI0000070E14	0		ENST00000357246		ENSG00000197769	13353		48			HGNC	p.L79L		MAP1LC3C		SNV							ENST00000357246	protein_coding			Gene3D:3.10.20.90,Pfam_domain:PF02991,hmmpanther:PTHR10969,hmmpanther:PTHR10969:SF24,Superfamily_domains:SSF54236		L		A		302/1182							YES	MAP1LC3C,synonymous_variant,p.=,ENST00000357246,NM_001004343.2;CFL1P4,downstream_gene_variant,,ENST00000451536,;							LOW	237/444		MLP3C_HUMAN			Transcript			.	ENSP00000349785		CCDS31074.1			1	
MAP1B	0	LGGM	GRCh37	5	71491394	71491394	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	75	12	.	.	ENST00000296755.7:c.2212G>T	p.Asp738Tyr	p.D738Y	ENST00000296755	NM_005909.3	738	Gac/Tac	0	1	1	UPI000013E382	0	NA	ENST00000296755		ENSG00000131711	6836		87	0.69		HGNC	p.D738Y		MAP1B		SNV							ENST00000296755	protein_coding	getma.org/?cm=var&var=hg19,5,71491394,G,T&fts=all		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		D/Y		T	neutral	2510/12034		getma.org/?cm=msa&ty=f&p=MAP1B_HUMAN&rb=733&re=951&var=D738Y		D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,missense_variant,p.Asp738Tyr,ENST00000296755,NM_005909.3;MAP1B,downstream_gene_variant,,ENST00000504492,;MAP1B,downstream_gene_variant,,ENST00000511641,;MAP1B,downstream_gene_variant,,ENST00000513526,;							MODERATE	2212/7407	D738Y	MAP1B_HUMAN			Transcript		unknown(0)	.	ENSP00000296755		CCDS4012.1			1	
OR10Z1	0	LGGM	GRCh37	1	158577032	158577032	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	261	12	.	.	ENST00000361284.1:c.804T>C	p.Leu268=	p.L268=	ENST00000361284	NM_001004478.1	268	ctT/ctC	0	1	1	UPI000004CA23	0		ENST00000361284		ENSG00000198967	14996		273			HGNC	p.L268L		OR10Z1		SNV							ENST00000361284	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF13853,PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF49,Superfamily_domains:SSF81321		L		C		804/942							YES	OR10Z1,synonymous_variant,p.=,ENST00000361284,NM_001004478.1;SPTA1,downstream_gene_variant,,ENST00000368147,NM_003126.2;SPTA1,downstream_gene_variant,,ENST00000485680,;							LOW	804/942		O10Z1_HUMAN			Transcript			.	ENSP00000354707		CCDS30901.1			1	
CASP3	0	LGGM	GRCh37	4	185556560	185556560	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	39	12	.	.	ENST00000308394.4:c.66T>C	p.His22=	p.H22=	ENST00000308394	NM_004346.3	22	caT/caC	0	1	1	UPI000000D90B	0		ENST00000308394		ENSG00000164305	1504		51			HGNC	p.H22H		CASP3		SNV							ENST00000523916	protein_coding			hmmpanther:PTHR10454,hmmpanther:PTHR10454:SF30		H		G		329/2673				C9JXR7_HUMAN			YES	CASP3,synonymous_variant,p.=,ENST00000308394,NM_004346.3;CASP3,synonymous_variant,p.=,ENST00000393585,;CASP3,synonymous_variant,p.=,ENST00000523916,NM_032991.2;CASP3,synonymous_variant,p.=,ENST00000517513,;CASP3,synonymous_variant,p.=,ENST00000393588,;CASP3,synonymous_variant,p.=,ENST00000447121,;							LOW	66/834		CASP3_HUMAN			Transcript			.	ENSP00000311032		CCDS3836.1			1	
CTTNBP2	0	LGGM	GRCh37	7	117351806	117351806	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	42	13	.	.	ENST00000160373.3:c.4777A>G	p.Thr1593Ala	p.T1593A	ENST00000160373	NM_033427.2	1593	Act/Gct	0	1	1	UPI000006E94A	0	NA	ENST00000160373		ENSG00000077063	15679		55	1.155		HGNC	p.T1593A		CTTNBP2		SNV							ENST00000160373	protein_coding	getma.org/?cm=var&var=hg19,7,117351806,T,C&fts=all		hmmpanther:PTHR24166:SF11,hmmpanther:PTHR24166		T/A		C	low	4869/5970		getma.org/?cm=msa&ty=f&p=CTTB2_HUMAN&rb=1560&re=1663&var=T1593A	tolerated(0.33)	Q20BG9_HUMAN,Q20BG7_HUMAN,C9JVQ6_HUMAN,C9JFC9_HUMAN,C9J720_HUMAN			YES	CTTNBP2,missense_variant,p.Thr1593Ala,ENST00000160373,NM_033427.2;CTTNBP2,missense_variant,p.Thr1081Ala,ENST00000446636,;CFTR,intron_variant,,ENST00000600166,;CFTR,intron_variant,,ENST00000608965,;CFTR,intron_variant,,ENST00000610149,;CFTR,intron_variant,,ENST00000429014,;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,;CTTNBP2,3_prime_UTR_variant,,ENST00000445366,;							MODERATE	4777/4992	T1593A	CTTB2_HUMAN			Transcript		benign(0.002)	.	ENSP00000160373		CCDS5774.1			1	
ZNF354C	0	LGGM	GRCh37	5	178505712	178505712	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	49	13	.	.	ENST00000315475.6:c.279A>G	p.Ala93=	p.A93=	ENST00000315475	NM_014594.1	93	gcA/gcG	0	1	1	UPI0000161A6A	0		ENST00000315475		ENSG00000177932	16736		62			HGNC	p.A93A		ZNF354C		SNV							ENST00000315475	protein_coding			hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF140		A		G		585/5411				Q9NT78_HUMAN			YES	ZNF354C,synonymous_variant,p.=,ENST00000315475,NM_014594.1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,;							LOW	279/1665		Z354C_HUMAN			Transcript			.	ENSP00000324064		CCDS4443.1			1	
PDCD11	0	LGGM	GRCh37	10	105204438	105204438	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	29	13	.	.	ENST00000369797.3:c.5443C>T	p.Arg1815Trp	p.R1815W	ENST00000369797	NM_014976.1	1815	Cgg/Tgg	0	1	1	UPI00001C1ED1	0	getma.org/pdb.php?prot=RRP5_HUMAN&from=1725&to=1870&var=R1815W	ENST00000369797		ENSG00000148843	13408		42	3.355		HGNC	p.R1815W	rs775255118	PDCD11	6.06E-05	SNV							ENST00000369797	protein_coding	getma.org/?cm=var&var=hg19,10,105204438,C,T&fts=all		Gene3D:1.25.40.10,Pfam_domain:PF05843,hmmpanther:PTHR23270,hmmpanther:PTHR23270:SF5,SMART_domains:SM00386,Superfamily_domains:SSF48452		R/W		T	medium	5537/6453		getma.org/?cm=msa&ty=f&p=RRP5_HUMAN&rb=1725&re=1870&var=R1815W	deleterious(0)				YES	PDCD11,missense_variant,p.Arg1815Trp,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,splice_region_variant,,ENST00000478543,;							MODERATE	5443/5616	R1815W	RRP5_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000358812	8.24E-06	CCDS31276.1			1	
ATP6V0D1	0	LGGM	GRCh37	16	67472980	67472980	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	31	15	.	.	ENST00000290949.3:c.710G>A	p.Arg237His	p.R237H	ENST00000290949	NM_004691.4	237	cGt/cAt	0	1	1	UPI0000138041	0	NA	ENST00000290949		ENSG00000159720	13724		46	3.845		HGNC	p.R237H	COSM972444	ATP6V0D1		SNV						1	ENST00000290949	protein_coding	getma.org/?cm=var&var=hg19,16,67472980,C,T&fts=all		Superfamily_domains:0044678,Pfam_domain:PF01992,PIRSF_domain:PIRSF018497,hmmpanther:PTHR11028,hmmpanther:PTHR11028:SF1		R/H		T	high	861/1716		getma.org/?cm=msa&ty=f&p=VA0D1_HUMAN&rb=15&re=349&var=R237H	deleterious(0)	R4GN72_HUMAN,C6SUN6_HUMAN			YES	ATP6V0D1,missense_variant,p.Arg237His,ENST00000290949,NM_004691.4;ATP6V0D1,missense_variant,p.Arg278His,ENST00000540149,;ATP6V0D1,missense_variant,p.Arg160His,ENST00000602876,;ATP6V0D1,missense_variant,p.Arg118His,ENST00000565835,;ATP6V0D1,missense_variant,p.Val177Met,ENST00000564615,;HSD11B2,downstream_gene_variant,,ENST00000326152,NM_000196.3;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000567694,;HSD11B2,downstream_gene_variant,,ENST00000567684,;ATP6V0D1,3_prime_UTR_variant,,ENST00000426604,;ATP6V0D1,3_prime_UTR_variant,,ENST00000563064,;ATP6V0D1,3_prime_UTR_variant,,ENST00000566322,;ATP6V0D1,3_prime_UTR_variant,,ENST00000561852,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000568620,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000563305,;ATP6V0D1,non_coding_transcript_exon_variant,,ENST00000567170,;ATP6V0D1,downstream_gene_variant,,ENST00000564191,;HSD11B2,downstream_gene_variant,,ENST00000566606,;ATP6V0D1,downstream_gene_variant,,ENST00000564788,;ATP6V0D1,downstream_gene_variant,,ENST00000568101,;AC009061.1,downstream_gene_variant,,ENST00000366223,;					1		MODERATE	710/1056	R237H	VA0D1_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000290949		CCDS10838.1			1	
MPHOSPH10	0	LGGM	GRCh37	2	71377105	71377105	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	23	15	.	.	ENST00000244230.2:c.2006A>G	p.Lys669Arg	p.K669R	ENST00000244230	NM_005791.2	669	aAg/aGg	0	1	1	UPI000012F41D	0	NA	ENST00000244230		ENSG00000124383	7213		38	1.7		HGNC	p.K529R	COSM75451	MPHOSPH10		SNV						1	ENST00000425650	protein_coding	getma.org/?cm=var&var=hg19,2,71377105,A,G&fts=all		PIRSF_domain:PIRSF017300,hmmpanther:PTHR17039,Low_complexity_(Seg):seg		K/R		G	low	2358/2484		getma.org/?cm=msa&ty=f&p=MPP10_HUMAN&rb=628&re=681&var=K669R	tolerated(0.08)				YES	MPHOSPH10,missense_variant,p.Lys669Arg,ENST00000244230,NM_005791.2;MPHOSPH10,non_coding_transcript_exon_variant,,ENST00000493360,;MPHOSPH10,downstream_gene_variant,,ENST00000476969,;					1		MODERATE	2006/2046	K669R	MPP10_HUMAN			Transcript		possibly_damaging(0.619)	.	ENSP00000244230		CCDS1916.1			1	
RYR3	0	LGGM	GRCh37	15	34032045	34032045	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	91	16	.	.	ENST00000389232.4:c.7669G>T	p.Asp2557Tyr	p.D2557Y	ENST00000389232	NM_001036.3	2557	Gat/Tat	0	1	1	UPI0000E5B01A	0	NA	ENST00000389232		ENSG00000198838	10485		107	1.15		HGNC	p.D2557Y		RYR3		SNV							ENST00000415757	protein_coding	getma.org/?cm=var&var=hg19,15,34032045,G,T&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR13715:SF16,hmmpanther:PTHR13715		D/Y		T	low	7739/15559		getma.org/?cm=msa&ty=f&p=RYR3_HUMAN&rb=2430&re=2596&var=D2557Y					YES	RYR3,missense_variant,p.Asp2557Tyr,ENST00000389232,NM_001036.3;RYR3,missense_variant,p.Asp2557Tyr,ENST00000415757,NM_001243996.1;							MODERATE	7669/14613	D2557Y	RYR3_HUMAN			Transcript		possibly_damaging(0.466)	.	ENSP00000373884		CCDS45210.1			1	
ERBB3	0	LGGM	GRCh37	12	56492597	56492597	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	48	17	.	.	ENST00000267101.3:c.2747G>T	p.Arg916Leu	p.R916L	ENST00000267101	NM_001982.3	916	cGa/cTa	0	1	1	UPI000012A113	0	getma.org/pdb.php?prot=ERBB3_HUMAN&from=709&to=965&var=R916L	ENST00000267101		ENSG00000065361	3431		65	0.835		HGNC	p.R916L		ERBB3		SNV			1				ENST00000267101	protein_coding	getma.org/?cm=var&var=hg19,12,56492597,G,T&fts=all		PROSITE_profiles:PS50011,hmmpanther:PTHR24416:SF88,hmmpanther:PTHR24416,Gene3D:1.10.510.10,Pfam_domain:PF07714,PIRSF_domain:PIRSF000619,Superfamily_domains:SSF56112		R/L		T	low	3187/5919		getma.org/?cm=msa&ty=f&p=ERBB3_HUMAN&rb=709&re=965&var=R916L	tolerated(0.13)	Q9NNX2_HUMAN,F8VX90_HUMAN,F8VW56_HUMAN,F8VW48_HUMAN,F8VRL0_HUMAN			YES	ERBB3,missense_variant,p.Arg916Leu,ENST00000267101,NM_001982.3;ERBB3,missense_variant,p.Arg857Leu,ENST00000415288,;ERBB3,missense_variant,p.Arg36Leu,ENST00000549832,;ERBB3,missense_variant,p.Arg157Leu,ENST00000553131,;ERBB3,missense_variant,p.Arg223Leu,ENST00000550070,;ERBB3,missense_variant,p.Arg273Leu,ENST00000450146,;RP11-603J24.9,upstream_gene_variant,,ENST00000548861,;ERBB3,3_prime_UTR_variant,,ENST00000551085,;ERBB3,non_coding_transcript_exon_variant,,ENST00000548709,;ERBB3,intron_variant,,ENST00000551242,;ERBB3,downstream_gene_variant,,ENST00000549205,;ERBB3,downstream_gene_variant,,ENST00000550869,;ERBB3,downstream_gene_variant,,ENST00000549644,;ERBB3,upstream_gene_variant,,ENST00000552691,;ERBB3,downstream_gene_variant,,ENST00000550828,;							MODERATE	2747/4029	R916L	ERBB3_HUMAN			Transcript		possibly_damaging(0.819)	.	ENSP00000267101		CCDS31833.1			1	
ITGA4	0	LGGM	GRCh37	2	182363421	182363421	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	58	17	.	.	ENST00000397033.2:c.1612A>G	p.Asn538Asp	p.N538D	ENST00000397033	NM_000885.4	538	Aat/Gat	0	1	1	UPI000052D444	0	getma.org/pdb.php?prot=ITA4_HUMAN&from=463&to=909&var=N538D	ENST00000397033		ENSG00000115232	6140		75	2.045		HGNC	p.N538D		ITGA4		SNV							ENST00000397033	protein_coding	getma.org/?cm=var&var=hg19,2,182363421,A,G&fts=all		Gene3D:1jv2A02,Pfam_domain:PF08441,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF78,Superfamily_domains:SSF69179		N/D		G	medium	2042/4189		getma.org/?cm=msa&ty=f&p=ITA4_HUMAN&rb=463&re=909&var=N538D	deleterious(0.02)	Q8IUA2_HUMAN,E7EP60_HUMAN			YES	ITGA4,missense_variant,p.Asn538Asp,ENST00000397033,NM_000885.4;ITGA4,missense_variant,p.Asn538Asp,ENST00000233573,;ITGA4,non_coding_transcript_exon_variant,,ENST00000476824,;ITGA4,non_coding_transcript_exon_variant,,ENST00000490435,;ITGA4,downstream_gene_variant,,ENST00000473002,;							MODERATE	1612/3099	N538D	ITA4_HUMAN			Transcript		benign(0.255)	.	ENSP00000380227		CCDS42788.1			1	
LRP1B	0	LGGM	GRCh37	2	141079553	141079553	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	46	17	.	.	ENST00000389484.3:c.12619T>A	p.Cys4207Ser	p.C4207S	ENST00000389484	NM_018557.2	4207	Tgc/Agc	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=4081&to=4247&var=C4207S	ENST00000389484		ENSG00000168702	6693		63	3.64		HGNC	p.C4207S		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141079553,A,T&fts=all		SMART_domains:SM00181		C/S		T	high	13591/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=4081&re=4247&var=C4207S		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			YES	LRP1B,missense_variant,p.Cys4207Ser,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Cys439Ser,ENST00000437977,;							MODERATE	12619/13800	C4207S	LRP1B_HUMAN			Transcript		benign(0.152)	.	ENSP00000374135		CCDS2182.1			1	
ZNF492	0	LGGM	GRCh37	19	22847465	22847465	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	56	18	.	.	ENST00000456783.2:c.994T>C	p.Ser332Pro	p.S332P	ENST00000456783	NM_020855.2	332	Tct/Cct	0	1	1	UPI00001C200B	0	getma.org/pdb.php?prot=ZN492_HUMAN&from=323&to=348&var=S332P	ENST00000456783		ENSG00000229676	23707		74	1.72		HGNC	p.S332P		ZNF492		SNV							ENST00000456783	protein_coding	getma.org/?cm=var&var=hg19,19,22847465,T,C&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24384:SF108,hmmpanther:PTHR24384,Pfam_domain:PF13465,Gene3D:3.30.160.60,Superfamily_domains:SSF57667		S/P		C	low	1238/4245		getma.org/?cm=msa&ty=f&p=ZN492_HUMAN&rb=303&re=368&var=S332P	deleterious(0)				YES	ZNF492,missense_variant,p.Ser332Pro,ENST00000456783,NM_020855.2;CTC-457E21.9,downstream_gene_variant,,ENST00000601860,;							MODERATE	994/1596	S332P	ZN492_HUMAN			Transcript		possibly_damaging(0.465)	.	ENSP00000413660		CCDS46032.1			1	
TRPM6	0	LGGM	GRCh37	9	77415268	77415268	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	35	18	.	.	ENST00000360774.1:c.2140G>T	p.Gly714Ter	p.G714*	ENST00000360774	NM_017662.4	714	Gga/Tga	0	1	1	UPI000006E041	0	NA	ENST00000360774		ENSG00000119121	17995		53	0		HGNC	p.G714X		TRPM6		SNV			1				ENST00000360774	protein_coding	getma.org/?cm=var&var=hg19,9,77415268,C,A&fts=all		hmmpanther:PTHR13800:SF15,hmmpanther:PTHR13800		G/*		A	NA	2378/8425		NA					YES	TRPM6,stop_gained,p.Gly714Ter,ENST00000451710,;TRPM6,stop_gained,p.Gly714Ter,ENST00000360774,NM_017662.4;TRPM6,stop_gained,p.Gly709Ter,ENST00000361255,NM_001177311.1;TRPM6,stop_gained,p.Gly709Ter,ENST00000449912,NM_001177310.1;TRPM6,stop_gained,p.Gly714Ter,ENST00000376864,;TRPM6,intron_variant,,ENST00000376872,;TRPM6,intron_variant,,ENST00000376871,;RN7SKP47,downstream_gene_variant,,ENST00000365347,;RP11-174B4.2,upstream_gene_variant,,ENST00000605848,;							HIGH	2140/6069	G714*	TRPM6_HUMAN			Transcript			.	ENSP00000354006		CCDS6647.1			1	
EPB41	0	LGGM	GRCh37	1	29344804	29344804	+	stop_gained	Nonsense_Mutation	SNP	T	T	G	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	32	18	.	.	ENST00000343067.4:c.974T>G	p.Leu325Ter	p.L325*	ENST00000343067	NM_001166005.1	325	tTa/tGa	0	1	1	UPI000014177D	0	NA	ENST00000343067		ENSG00000159023	3377		50	0		HGNC	p.L325X		EPB41		SNV			1				ENST00000373798	protein_coding	getma.org/?cm=var&var=hg19,1,29344804,T,G&fts=all		Gene3D:1.20.80.10,Pfam_domain:PF00373,PIRSF_domain:PIRSF002304,Prints_domain:PR00661,Prints_domain:PR00935,PROSITE_profiles:PS50057,hmmpanther:PTHR23280,hmmpanther:PTHR23280:SF12,SMART_domains:SM00295,Superfamily_domains:SSF47031		L/*		G	NA	1101/5930		NA					YES	EPB41,stop_gained,p.Leu325Ter,ENST00000343067,NM_001166005.1;EPB41,stop_gained,p.Leu325Ter,ENST00000373798,;EPB41,stop_gained,p.Leu325Ter,ENST00000356093,NM_001166007.1;EPB41,stop_gained,p.Leu325Ter,ENST00000398863,;EPB41,stop_gained,p.Leu116Ter,ENST00000349460,NM_203342.2;EPB41,stop_gained,p.Leu116Ter,ENST00000373800,NM_004437.3;EPB41,stop_gained,p.Leu290Ter,ENST00000347529,NM_203343.2;EPB41,stop_gained,p.Leu325Ter,ENST00000373797,NM_001166006.1;							HIGH	974/2595	L325*	41_HUMAN			Transcript			.	ENSP00000345259		CCDS53288.1			1	
MUC19	0	LGGM	GRCh37	12	40814079	40814079	+	5_prime_UTR_variant	5'UTR	SNP	A	A	T	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	73	18	.	.	ENST00000454784.4:c.-243A>T		*81*	ENST00000454784				0	1	1	UPI0003B927DE	0		ENST00000454784		ENSG00000205592	14362		91			HGNC	p.S146S		MUC19		SNV							ENST00000425730	protein_coding							T		491/19628				C9JCE7_HUMAN			YES	MUC19,synonymous_variant,p.=,ENST00000425730,;MUC19,5_prime_UTR_variant,,ENST00000454784,;RP11-115F18.1,non_coding_transcript_exon_variant,,ENST00000552757,;MUC19,non_coding_transcript_exon_variant,,ENST00000471230,;							MODIFIER	-/10893					Transcript			.	ENSP00000476404					1	
ZC3H6	0	LGGM	GRCh37	2	113081807	113081807	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	71	19	.	.	ENST00000409871.1:c.1419T>C	p.Tyr473=	p.Y473=	ENST00000409871	NM_198581.2	473	taT/taC	0	1		UPI00004215E8	0		ENST00000343936		ENSG00000188177	24762		90			HGNC	p.Y473Y		ZC3H6		SNV							ENST00000343936	protein_coding			hmmpanther:PTHR13119,hmmpanther:PTHR13119:SF22		Y		C		1813/11539								ZC3H6,synonymous_variant,p.=,ENST00000409871,NM_198581.2;ZC3H6,synonymous_variant,p.=,ENST00000343936,;							LOW	1419/3570		ZC3H6_HUMAN			Transcript			.	ENSP00000340298					1	
HIST1H2BE	0	LGGM	GRCh37	6	26184104	26184104	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	159	19	.	.	ENST00000356530.3:c.81C>A	p.Gly27=	p.G27=	ENST00000356530	NM_003523.2	27	ggC/ggA	0	1	1	UPI0000000C24	0		ENST00000356530		ENSG00000197697	4753		178			HGNC	p.G27G		HIST1H2BE		SNV							ENST00000356530	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR23428,Gene3D:1.10.20.10,Superfamily_domains:SSF47113		G		A		147/497				B2R4S9_HUMAN			YES	HIST1H2BE,synonymous_variant,p.=,ENST00000356530,NM_003523.2;HIST1H4D,downstream_gene_variant,,ENST00000340756,NM_003539.3;							LOW	81/381		H2B1C_HUMAN			Transcript			.	ENSP00000348924		CCDS4588.1			1	
ZZZ3	0	LGGM	GRCh37	1	78097958	78097958	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	57	20	.	.	ENST00000370801.3:c.1082T>C	p.Val361Ala	p.V361A	ENST00000370801	NM_015534.4	361	gTt/gCt	0	1	1	UPI0000074256	0	NA	ENST00000370801		ENSG00000036549	24523		77	1.59		HGNC	p.V361A		ZZZ3		SNV							ENST00000370801	protein_coding	getma.org/?cm=var&var=hg19,1,78097958,A,G&fts=all		hmmpanther:PTHR22705		V/A		G	low	1558/4328		getma.org/?cm=msa&ty=f&p=ZZZ3_HUMAN&rb=1&re=459&var=V361A	tolerated_low_confidence(0.22)	C9JUA4_HUMAN,C9J283_HUMAN			YES	ZZZ3,missense_variant,p.Val361Ala,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,;							MODERATE	1082/2712	V361A	ZZZ3_HUMAN			Transcript		benign(0.004)	.	ENSP00000359837		CCDS677.1			1	
UBR4	0	LGGM	GRCh37	1	19525057	19525057	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	39	20	.	.	ENST00000375254.3:c.626A>G	p.Gln209Arg	p.Q209R	ENST00000375254	NM_020765.2	209	cAa/cGa	0	1	1	UPI000021276F	0	NA	ENST00000375254		ENSG00000127481	30313		59	0		HGNC	p.Q209R		UBR4		SNV							ENST00000375267	protein_coding	getma.org/?cm=var&var=hg19,1,19525057,T,C&fts=all		hmmpanther:PTHR21725		Q/R		C	neutral	654/15906		getma.org/?cm=msa&ty=f&p=UBR4_HUMAN&rb=27&re=1659&var=Q209R		Q96HY5_HUMAN			YES	UBR4,missense_variant,p.Gln209Arg,ENST00000375267,;UBR4,missense_variant,p.Gln209Arg,ENST00000375254,NM_020765.2;UBR4,missense_variant,p.Gln209Arg,ENST00000375217,;UBR4,missense_variant,p.Gln209Arg,ENST00000375226,;							MODERATE	626/15552	Q209R	UBR4_HUMAN			Transcript		benign(0)	.	ENSP00000364403		CCDS189.1			1	
MXRA5	0	LGGM	GRCh37	X	3229345	3229345	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	41	21	.	.	ENST00000217939.6:c.6899G>A	p.Arg2300His	p.R2300H	ENST00000217939	NM_015419.3	2300	cGc/cAc	0	1	1	UPI000013C73B	0	getma.org/pdb.php?prot=MXRA5_HUMAN&from=2244&to=2341&var=R2300H	ENST00000217939		ENSG00000101825	7539		62	2.63		HGNC	p.R2300H	rs776590689	MXRA5		SNV							ENST00000217939	protein_coding	getma.org/?cm=var&var=hg19,X,3229345,C,T&fts=all	A:0	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		R/H		T	medium	7054/9793	2.08E-05	getma.org/?cm=msa&ty=f&p=MXRA5_HUMAN&rb=2244&re=2341&var=R2300H	deleterious(0)		A:0	A:0.001	YES	MXRA5,missense_variant,p.Arg2300His,ENST00000217939,NM_015419.3;		A:0.0003					MODERATE	6899/8487	R2300H	MXRA5_HUMAN		A:0	Transcript		probably_damaging(0.995)	.	ENSP00000217939	1.65E-05	CCDS14124.1		A:0	1	
TRIM64C	0	LGGM	GRCh37	11	49078776	49078776	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	105	21	.	.	ENST00000530230.1:c.653A>T	p.Gln218Leu	p.Q218L	ENST00000530230	NM_001206631.1	218	cAa/cTa	0	1	1	UPI0001A5E484	0	NA	ENST00000530230		ENSG00000214891	37148		126	2.56		HGNC	p.Q218L		TRIM64C		SNV							ENST00000530230	protein_coding	getma.org/?cm=var&var=hg19,11,49078776,T,A&fts=all		hmmpanther:PTHR24103,hmmpanther:PTHR24103:SF307		Q/L		A	medium	653/1344		getma.org/?cm=msa&ty=f&p=TR64C_HUMAN&rb=129&re=328&var=Q217L	deleterious(0)	E9PII4_HUMAN			YES	TRIM64C,missense_variant,p.Gln218Leu,ENST00000530230,NM_001206631.1;							MODERATE	653/1344	Q217L				Transcript		probably_damaging(0.992)	.	ENSP00000431987					1	
PEAK1	0	LGGM	GRCh37	15	77472878	77472878	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	61	21	.	.	ENST00000560626.2:c.1391T>C	p.Val464Ala	p.V464A	ENST00000560626		464	gTt/gCt	0	1		UPI00002378D0	0	NA	ENST00000312493		ENSG00000173517	29431		82	0.975		HGNC	p.V464A		PEAK1		SNV							ENST00000312493	protein_coding	getma.org/?cm=var&var=hg19,15,77472878,A,G&fts=all		hmmpanther:PTHR22972,hmmpanther:PTHR22972:SF5		V/A		G	low	1670/11547		getma.org/?cm=msa&ty=f&p=PEAK1_HUMAN&rb=101&re=1105&var=V464A	deleterious(0)	H3BUZ5_HUMAN,H3BUE6_HUMAN				PEAK1,missense_variant,p.Val464Ala,ENST00000560626,;PEAK1,missense_variant,p.Val464Ala,ENST00000312493,NM_024776.3;PEAK1,missense_variant,p.Val464Ala,ENST00000558305,;PEAK1,missense_variant,p.Val464Ala,ENST00000564328,;PEAK1,downstream_gene_variant,,ENST00000565820,;PEAK1,upstream_gene_variant,,ENST00000559791,;PEAK1,downstream_gene_variant,,ENST00000567808,;PEAK1,upstream_gene_variant,,ENST00000560854,;							MODERATE	1391/5241	V464A	PEAK1_HUMAN			Transcript		benign(0.341)	.	ENSP00000309230		CCDS42062.1			1	
GPR116	0	LGGM	GRCh37	6	46836684	46836684	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	33	22	.	.	ENST00000283296.7:c.1557G>A	p.Thr519=	p.T519=	ENST00000283296	NM_001098518.1	519	acG/acA	0	1		UPI000007075A	0		ENST00000265417		ENSG00000069122	19030		55			HGNC	p.T519T	rs370837243	GPR116		SNV	T:0.0002						ENST00000362015	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF13895,PROSITE_profiles:PS50835,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF272,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726		T	T:0	T		1791/5668								GPR116,synonymous_variant,p.=,ENST00000283296,NM_001098518.1;GPR116,synonymous_variant,p.=,ENST00000362015,;GPR116,synonymous_variant,p.=,ENST00000265417,NM_015234.4;GPR116,synonymous_variant,p.=,ENST00000456426,;GPR116,5_prime_UTR_variant,,ENST00000545669,;	0.000231						LOW	1557/4041		GP116_HUMAN			Transcript			.	ENSP00000265417	1.65E-05	CCDS4919.1			1	
SELL	0	LGGM	GRCh37	1	169679611	169679611	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112665	H112665N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	64	28	.	.	ENST00000236147.4:c.90C>T	p.Ile30=	p.I30=	ENST00000236147	NM_000655.4	30	atC/atT	0	1	1	UPI000007083D	0		ENST00000236147		ENSG00000188404	10720		92			HGNC	p.I30I		SELL		SNV							ENST00000236147	protein_coding			PIRSF_domain:PIRSF002421,hmmpanther:PTHR19325,hmmpanther:PTHR19325:SF337		I		A		251/2436				Q6ULR8_HUMAN			YES	SELL,synonymous_variant,p.=,ENST00000236147,NM_000655.4;SELL,non_coding_transcript_exon_variant,,ENST00000463108,;SELL,non_coding_transcript_exon_variant,,ENST00000466340,;C1orf112,intron_variant,,ENST00000498289,;SELL,upstream_gene_variant,,ENST00000479657,;							LOW	90/1158		LYAM1_HUMAN			Transcript			.	ENSP00000236147		CCDS53427.1			1	
CNBD1	0	LGGM	GRCh37	8	88365910	88365910	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	82	32	.	.	ENST00000518476.1:c.1199A>T	p.Glu400Val	p.E400V	ENST00000518476	NM_173538.2	400	gAg/gTg	0	1	1	UPI000006EA68	0	NA	ENST00000518476		ENSG00000176571	26663		114	1.845		HGNC	p.E400V		CNBD1		SNV							ENST00000518476	protein_coding	getma.org/?cm=var&var=hg19,8,88365910,A,T&fts=all		PROSITE_profiles:PS50042,hmmpanther:PTHR11635,hmmpanther:PTHR11635:SF124,Pfam_domain:PF00027,Gene3D:2.60.120.10,Superfamily_domains:SSF51206		E/V		T	low	1250/1594		getma.org/?cm=msa&ty=f&p=CNBD1_HUMAN&rb=340&re=435&var=E400V	deleterious(0)				YES	CNBD1,missense_variant,p.Glu400Val,ENST00000518476,NM_173538.2;CNBD1,missense_variant,p.Glu92Val,ENST00000523299,;CNBD1,missense_variant,p.Glu37Val,ENST00000521593,;							MODERATE	1199/1311	E400V	CNBD1_HUMAN			Transcript		probably_damaging(0.967)	.	ENSP00000430073		CCDS55259.1			1	
OR4K17	0	LGGM	GRCh37	14	20586154	20586154	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112665	H112665N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	78	32	.	.	ENST00000315543.4:c.589T>C	p.Leu197=	p.L197=	ENST00000315543	NM_001004715.1	197	Ttg/Ctg	0	1	1	UPI000004B1EA	0		ENST00000315543		ENSG00000176230	15355		110			HGNC	p.L197L		OR4K17		SNV							ENST00000315543	protein_coding			PROSITE_profiles:PS50262,hmmpanther:PTHR26451,hmmpanther:PTHR26451:SF322,Pfam_domain:PF13853,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321		L		C		589/1032							YES	OR4K17,synonymous_variant,p.=,ENST00000315543,NM_001004715.1;							LOW	589/1032		OR4KH_HUMAN			Transcript			.	ENSP00000319197		CCDS32030.1			1	
DISP1	0	LGGM	GRCh37	1	223178627	223178627	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	78	35	.	.	ENST00000284476.6:c.3888C>G	p.His1296Gln	p.H1296Q	ENST00000284476	NM_032890.3	1296	caC/caG	0	1	1	UPI000016069D	0	NA	ENST00000284476		ENSG00000154309	19711		113	0.55		HGNC	p.H1296Q		DISP1		SNV			1				ENST00000284476	protein_coding	getma.org/?cm=var&var=hg19,1,223178627,C,G&fts=all				H/Q		G	neutral	4052/4762		getma.org/?cm=msa&ty=f&p=DISP1_HUMAN&rb=1165&re=1523&var=H1296Q	tolerated_low_confidence(0.29)				YES	DISP1,missense_variant,p.His1296Gln,ENST00000284476,NM_032890.3;							MODERATE	3888/4575	H1296Q	DISP1_HUMAN			Transcript		benign(0.001)	.	ENSP00000284476		CCDS1536.1			1	
RYR2	0	LGGM	GRCh37	1	237957283	237957283	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	139	37	.	.	ENST00000366574.2:c.13899C>T	p.Leu4633=	p.L4633=	ENST00000366574	NM_001035.2	4633	ctC/ctT	0	1	1	UPI0000DD0308	0		ENST00000366574		ENSG00000198626	10484		176			HGNC	p.L66L	COSM3966398,COSM3966397	RYR2		SNV			1			1,1	ENST00000536033	protein_coding			hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF75		L		T		14216/16562				H0YGL9_HUMAN,D7UNU4_HUMAN,D7UNU3_HUMAN,D7UNU2_HUMAN			YES	RYR2,synonymous_variant,p.=,ENST00000366574,NM_001035.2;RYR2,synonymous_variant,p.=,ENST00000542537,;RYR2,synonymous_variant,p.=,ENST00000360064,;RYR2,non_coding_transcript_exon_variant,,ENST00000608590,;					1,1		LOW	13899/14904		RYR2_HUMAN			Transcript			.	ENSP00000355533		CCDS55691.1			1	
RASSF9	0	LGGM	GRCh37	12	86198609	86198609	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112665	H112665N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	130	37	.	.	ENST00000361228.3:c.1179G>T	p.Glu393Asp	p.E393D	ENST00000361228	NM_005447.3	393	gaG/gaT	0	1	1	UPI000003E7E4	0	NA	ENST00000361228		ENSG00000198774	15739		167	0.69		HGNC	p.E393D		RASSF9		SNV							ENST00000361228	protein_coding	getma.org/?cm=var&var=hg19,12,86198609,C,A&fts=all		hmmpanther:PTHR15286,hmmpanther:PTHR15286:SF10		E/D		A	neutral	1548/1826		getma.org/?cm=msa&ty=f&p=RASF9_HUMAN&rb=367&re=435&var=E393D	tolerated(0.58)				YES	RASSF9,missense_variant,p.Glu393Asp,ENST00000361228,NM_005447.3;							MODERATE	1179/1308	E393D	RASF9_HUMAN			Transcript		benign(0.002)	.	ENSP00000354884		CCDS44950.1			1	
MORC4	0	LGGM	GRCh37	X	106229360	106229360	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	142	40	.	.	ENST00000355610.4:c.379T>C	p.Ser127Pro	p.S127P	ENST00000355610	NM_001085354.2	127	Tca/Cca	0	1	1	UPI00003E75D3	0	NA	ENST00000355610		ENSG00000133131	23485		182	3.52		HGNC	p.S127P		MORC4		SNV							ENST00000255495	protein_coding	getma.org/?cm=var&var=hg19,X,106229360,A,G&fts=all		Gene3D:3.30.565.10,Pfam_domain:PF13589,hmmpanther:PTHR23336,hmmpanther:PTHR23336:SF1,Superfamily_domains:SSF55874		S/P		G	high	654/3834		getma.org/?cm=msa&ty=f&p=MORC4_HUMAN&rb=48&re=179&var=S127P	deleterious(0)				YES	MORC4,missense_variant,p.Ser127Pro,ENST00000355610,NM_001085354.2,NM_024657.4;MORC4,missense_variant,p.Ser127Pro,ENST00000255495,;MORC4,intron_variant,,ENST00000535534,;MORC4,intron_variant,,ENST00000604604,;							MODERATE	379/2814	S127P	MORC4_HUMAN			Transcript		probably_damaging(0.988)	.	ENSP00000347821		CCDS14525.2			1	
ALDH9A1	0	LGGM	GRCh37	1	165649873	165649873	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112665	H112665N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112665N.bam, H112665T.bam	Illumina HiSeq	73	46	.	.	ENST00000354775.4:c.640T>G	p.Leu214Val	p.L214V	ENST00000354775	NM_000696.3	214	Ttg/Gtg	0	1	1	UPI00003E07DD	0	getma.org/pdb.php?prot=AL9A1_HUMAN&from=21&to=483&var=L190V	ENST00000354775		ENSG00000143149	412		119	1.085		HGNC	p.L214V		ALDH9A1		SNV							ENST00000354775	protein_coding	getma.org/?cm=var&var=hg19,1,165649873,A,C&fts=all		Gene3D:3.40.605.10,Pfam_domain:PF00171,hmmpanther:PTHR11699,hmmpanther:PTHR11699:SF126,Superfamily_domains:SSF53720		L/V		C	low	945/2696		getma.org/?cm=msa&ty=f&p=AL9A1_HUMAN&rb=21&re=483&var=L190V	tolerated(0.4)	B9EKV4_HUMAN,B4DXY7_HUMAN,B4DX14_HUMAN,B4DE91_HUMAN			YES	ALDH9A1,missense_variant,p.Leu214Val,ENST00000354775,NM_000696.3;ALDH9A1,missense_variant,p.Leu120Val,ENST00000538148,;ALDH9A1,non_coding_transcript_exon_variant,,ENST00000461664,;ALDH9A1,upstream_gene_variant,,ENST00000491436,;ALDH9A1,downstream_gene_variant,,ENST00000471457,;RP11-466F5.4,downstream_gene_variant,,ENST00000437709,;							MODERATE	640/1557	L190V	AL9A1_HUMAN			Transcript		benign(0.003)	.	ENSP00000346827		CCDS1250.2			1	
CALHM3	0	LGGM	GRCh37	10	105233169	105233170	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	by Submitter	H112971	H112971N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	4	2	.	.	ENST00000369783.4:c.835_836insT	p.Gly279ValfsTer4	p.G279Vfs*4	ENST00000369783	NM_001129742.1	279	ggc/gTgc	0	1	1	UPI00001BE8E6	0		ENST00000369783		ENSG00000183128	23458		6			HGNC	p.G279fs	TMP_ESP_10_105233170_105233169	CALHM3		insertion	A:0.0589						ENST00000369783	protein_coding			hmmpanther:PTHR32261,hmmpanther:PTHR32261:SF7		G/VX	A:0.0004	A		1043-1044/1652							YES	CALHM3,frameshift_variant,p.Gly279ValfsTer4,ENST00000369783,NM_001129742.1;							HIGH	835-836/1035		CAHM3_HUMAN			Transcript			.	ENSP00000358798		CCDS44476.1			1	
PRAMEF22	0	LGGM	GRCh37	1	13036252	13036252	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	2	.	.	ENST00000376187.1:c.324G>T	p.Arg108=	p.R108=	ENST00000376187	NM_001100631.1	108	cgG/cgT	0	1	1	UPI000066D8B5	0		ENST00000376187		ENSG00000204508	34393		5			HGNC	p.R108R		PRAMEF22		SNV							ENST00000376187	protein_coding			hmmpanther:PTHR14224,hmmpanther:PTHR14224:SF23,PIRSF_domain:PIRSF038286		R		T		324/1446							YES	PRAMEF22,synonymous_variant,p.=,ENST00000376187,NM_001100631.1;PRAMEF6,intron_variant,,ENST00000376192,;							LOW	324/1446		PRA22_HUMAN			Transcript			.	ENSP00000365358		CCDS41256.1			1	
FBXO31	0	LGGM	GRCh37	16	87367590	87367590	+	synonymous_variant	Silent	SNP	C	C	G	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	9	2	.	.	ENST00000311635.7:c.1299G>C	p.Ala433=	p.A433=	ENST00000311635	NM_024735.3	433	gcG/gcC	0	1	1	UPI000021D235	0		ENST00000311635		ENSG00000103264	16510		11			HGNC	p.A433A		FBXO31		SNV			1				ENST00000311635	protein_coding			Low_complexity_(Seg):seg,hmmpanther:PTHR10706,hmmpanther:PTHR10706:SF126		A		G		1312/5934				H3BUC7_HUMAN			YES	FBXO31,synonymous_variant,p.=,ENST00000311635,NM_024735.3,NM_001282683.1;RP11-178L8.4,synonymous_variant,p.=,ENST00000568879,;FBXO31,downstream_gene_variant,,ENST00000563113,;FBXO31,3_prime_UTR_variant,,ENST00000565593,;							LOW	1299/1620		FBX31_HUMAN			Transcript			.	ENSP00000310841		CCDS32501.1			1	
SLITRK1	0	LGGM	GRCh37	13	84453749	84453749	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	8	2	.	.	ENST00000377084.2:c.1894G>T	p.Ala632Ser	p.A632S	ENST00000377084	NM_052910.2	632	Gcc/Tcc	0	1	1	UPI0000035971	0	NA	ENST00000377084		ENSG00000178235	20297		10	0		HGNC	p.A632S		SLITRK1		SNV			1				ENST00000377084	protein_coding	getma.org/?cm=var&var=hg19,13,84453749,C,A&fts=all		hmmpanther:PTHR24373,hmmpanther:PTHR24373:SF33,Transmembrane_helices:TMhelix		A/S		A	neutral	2780/5185		getma.org/?cm=msa&ty=f&p=SLIK1_HUMAN&rb=627&re=694&var=A632S	deleterious(0.01)				YES	SLITRK1,missense_variant,p.Ala632Ser,ENST00000377084,NM_052910.2,NM_001281503.1;							MODERATE	1894/2091	A632S	SLIK1_HUMAN			Transcript		possibly_damaging(0.805)	.	ENSP00000366288		CCDS9464.1			1	
ALK	0	LGGM	GRCh37	2	29444016	29444016	+	intron_variant	Intron	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	0	2	.	.	ENST00000389048.3:c.3516-315G>A		*1172*	ENST00000389048	NM_004304.4			0	1	1	UPI00001684DA	0		ENST00000389048		ENSG00000171094	427		2			HGNC	p.T99T	rs559777436	ALK		SNV			1				ENST00000453137	protein_coding		T:0					T		-/6220				Q580I3_HUMAN	T:0	T:0.001	YES	ALK,synonymous_variant,p.=,ENST00000453137,;ALK,intron_variant,,ENST00000389048,NM_004304.4;ALK,intron_variant,,ENST00000431873,;	0.00203	T:0.0002					MODIFIER	-/4863		ALK_HUMAN		T:0	Transcript			common_variant	ENSP00000373700	4.04E-05	CCDS33172.1		T:0	1	
GLB1L3	0	LGGM	GRCh37	11	134183310	134183310	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	0	2	.	.	ENST00000431683.2:c.1521C>A	p.Ile507=	p.I507=	ENST00000431683	NM_001080407.2	507	atC/atA	0	1	1	UPI0001633637	0		ENST00000431683		ENSG00000166105	25147		2			HGNC	p.I507I		GLB1L3		SNV							ENST00000431683	protein_coding			PIRSF_domain:PIRSF006336,hmmpanther:PTHR23421,hmmpanther:PTHR23421:SF59		I		A		1521/2583							YES	GLB1L3,synonymous_variant,p.=,ENST00000431683,NM_001080407.2;GLB1L3,non_coding_transcript_exon_variant,,ENST00000410100,;GLB1L3,intron_variant,,ENST00000467068,;GLB1L3,intron_variant,,ENST00000486034,;GLB1L3,intron_variant,,ENST00000498012,;GLB1L3,intron_variant,,ENST00000455971,;AP000859.4,downstream_gene_variant,,ENST00000525536,;							LOW	1521/1962		GLBL3_HUMAN			Transcript			.	ENSP00000396615		CCDS44780.1			1	
BCAT2	0	LGGM	GRCh37	19	49300575	49300575	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	7	2	.	.	ENST00000316273.6:c.711C>A	p.Thr237=	p.T237=	ENST00000316273	NM_001190.3	237	acC/acA	0	1	1	UPI00001267CC	0		ENST00000316273		ENSG00000105552	977		9			HGNC	p.T197T		BCAT2		SNV							ENST00000402551	protein_coding			Gene3D:3.20.10.10,Pfam_domain:PF01063,PIRSF_domain:PIRSF006468,hmmpanther:PTHR11825,hmmpanther:PTHR11825:SF2,Superfamily_domains:SSF56752,TIGRFAM_domain:TIGR01123		T		T		724/1552				M0R2K7_HUMAN,B3KSI3_HUMAN			YES	BCAT2,synonymous_variant,p.=,ENST00000402551,NM_001284325.1;BCAT2,synonymous_variant,p.=,ENST00000593515,;BCAT2,synonymous_variant,p.=,ENST00000597011,;BCAT2,synonymous_variant,p.=,ENST00000316273,NM_001190.3;BCAT2,synonymous_variant,p.=,ENST00000599246,;BCAT2,synonymous_variant,p.=,ENST00000598162,;BCAT2,synonymous_variant,p.=,ENST00000545387,NM_001164773.1;BCAT2,downstream_gene_variant,,ENST00000601681,;RNU6-317P,upstream_gene_variant,,ENST00000384031,;BCAT2,non_coding_transcript_exon_variant,,ENST00000599510,;BCAT2,downstream_gene_variant,,ENST00000595376,;							LOW	711/1179		BCAT2_HUMAN			Transcript			.	ENSP00000322991		CCDS12735.1			1	
CAMK2N2	0	LGGM	GRCh37	3	183979025	183979025	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	5	2	.	.	ENST00000296238.3:c.49G>T	p.Ala17Ser	p.A17S	ENST00000296238	NM_033259.2	17	Gca/Tca	0	1	1	UPI00000496C6	0		ENST00000296238		ENSG00000163888	24197		7			HGNC	p.A17S		CAMK2N2		SNV							ENST00000296238	protein_coding			Pfam_domain:PF15170,hmmpanther:PTHR31007,hmmpanther:PTHR31007:SF1		A/S		A		227/1362			tolerated_low_confidence(0.83)				YES	CAMK2N2,missense_variant,p.Ala17Ser,ENST00000296238,NM_033259.2;ECE2,intron_variant,,ENST00000402825,NM_014693.3;EIF2B5,intron_variant,,ENST00000444495,;ECE2,downstream_gene_variant,,ENST00000324557,NM_032331.3;							MODERATE	49/240		CK2N2_HUMAN			Transcript		benign(0.001)	.	ENSP00000296238		CCDS3257.1			1	
PTPRE	0	LGGM	GRCh37	10	129871702	129871702	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	10	2	.	.	ENST00000254667.3:c.1566C>A	p.Ile522=	p.I522=	ENST00000254667	NM_006504.4	522	atC/atA	0	1	1	UPI0000132991	0		ENST00000254667		ENSG00000132334	9669		12			HGNC	p.I464I		PTPRE		SNV							ENST00000306042	protein_coding			PROSITE_profiles:PS50055,Pfam_domain:PF00102,Gene3D:3.90.190.10,PIRSF_domain:PIRSF002006,SMART_domains:SM00194,Superfamily_domains:SSF52799		I		A		1845/5331				Q96P81_HUMAN,Q69YS2_HUMAN,Q5VWH6_HUMAN,Q5VWH5_HUMAN			YES	PTPRE,synonymous_variant,p.=,ENST00000254667,NM_006504.4;PTPRE,synonymous_variant,p.=,ENST00000306042,NM_130435.3;PTPRE,synonymous_variant,p.=,ENST00000419012,;PTPRE,3_prime_UTR_variant,,ENST00000479896,;PTPRE,downstream_gene_variant,,ENST00000463727,;PTPRE,downstream_gene_variant,,ENST00000495530,;PTPRE,downstream_gene_variant,,ENST00000492479,;							LOW	1566/2103		PTPRE_HUMAN			Transcript			.	ENSP00000254667		CCDS7657.1			1	
VIM	0	LGGM	GRCh37	10	17271787	17271787	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	2	.	.	ENST00000544301.1:c.366C>A	p.Arg122=	p.R122=	ENST00000544301	NM_003380.3	122	cgC/cgA	0	1		UPI00000012EB	0		ENST00000224237		ENSG00000026025	12692		5			HGNC	p.R122R		VIM		SNV			1				ENST00000224237	protein_coding			Coiled-coils_(Ncoils):Coil,Pfam_domain:PF00038,hmmpanther:PTHR23239,hmmpanther:PTHR23239:SF27,Superfamily_domains:SSF64593		R		A		511/1868								VIM,synonymous_variant,p.=,ENST00000544301,NM_003380.3;VIM,synonymous_variant,p.=,ENST00000224237,;VIM,upstream_gene_variant,,ENST00000421459,;VIM-AS1,non_coding_transcript_exon_variant,,ENST00000605833,;VIM-AS1,upstream_gene_variant,,ENST00000437232,;RP11-124N14.3,downstream_gene_variant,,ENST00000456355,;VIM,non_coding_transcript_exon_variant,,ENST00000485947,;VIM,non_coding_transcript_exon_variant,,ENST00000478317,;VIM,non_coding_transcript_exon_variant,,ENST00000478746,;VIM,upstream_gene_variant,,ENST00000495528,;VIM,downstream_gene_variant,,ENST00000497849,;VIM,synonymous_variant,p.=,ENST00000487938,;VIM,upstream_gene_variant,,ENST00000469543,;							LOW	366/1401		VIME_HUMAN			Transcript			.	ENSP00000224237		CCDS7120.1			1	
CPNE2	0	LGGM	GRCh37	16	57171165	57171165	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	4	2	.	.	ENST00000535318.2:c.1273G>T	p.Ala425Ser	p.A425S	ENST00000535318		425	Gcc/Tcc	0	1		UPI000017DA4F	0	NA	ENST00000290776		ENSG00000140848	2315		6	0.71		HGNC	p.A425S		CPNE2		SNV							ENST00000565874	protein_coding	getma.org/?cm=var&var=hg19,16,57171165,G,T&fts=all		Pfam_domain:PF07002,hmmpanther:PTHR10857,hmmpanther:PTHR10857:SF3,Low_complexity_(Seg):seg,SMART_domains:SM00327,Superfamily_domains:SSF53300		A/S		T	neutral	1562/2244		getma.org/?cm=msa&ty=f&p=CPNE2_HUMAN&rb=326&re=473&var=A425S	tolerated(0.27)	Q719H8_HUMAN,H3BQQ3_HUMAN,H3BPR8_HUMAN				CPNE2,missense_variant,p.Ala425Ser,ENST00000535318,;CPNE2,missense_variant,p.Ala425Ser,ENST00000290776,NM_152727.5;CPNE2,missense_variant,p.Ala323Ser,ENST00000537605,;CPNE2,missense_variant,p.Ala425Ser,ENST00000565874,;CPNE2,downstream_gene_variant,,ENST00000565766,;CPNE2,non_coding_transcript_exon_variant,,ENST00000566910,;CPNE2,intron_variant,,ENST00000565951,;CPNE2,intron_variant,,ENST00000566042,;							MODERATE	1273/1647	A425S	CPNE2_HUMAN			Transcript		benign(0.021)	.	ENSP00000290776		CCDS10774.1			1	
MSRB1	0	LGGM	GRCh37	16	1991150	1991150	+	intron_variant	Intron	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	6	2	.	.	ENST00000361871.3:c.204+108G>T		*68*	ENST00000361871	NM_016332.2			0	1	1	UPI0000161C13	0		ENST00000361871		ENSG00000198736	14133		8			HGNC	p.V75F		MSRB1		SNV							ENST00000564908	protein_coding							A		-/1423				D3DU81_HUMAN			YES	MSRB1,missense_variant,p.Val75Phe,ENST00000564908,;MSRB1,synonymous_variant,p.=,ENST00000399753,;MSRB1,intron_variant,,ENST00000361871,NM_016332.2;MSRB1,intron_variant,,ENST00000473663,;RPL3L,downstream_gene_variant,,ENST00000268661,NM_005061.2;MSRB1,non_coding_transcript_exon_variant,,ENST00000489198,;							MODIFIER	-/351		MSRB1_HUMAN			Transcript			.	ENSP00000355084		CCDS42100.1			1	
VPS9D1	0	LGGM	GRCh37	16	89774926	89774926	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	0	2	.	.	ENST00000389386.3:c.1711C>A	p.Leu571Met	p.L571M	ENST00000389386	NM_004913.2	571	Ctg/Atg	0	1	1	UPI00001FF749	0	getma.org/pdb.php?prot=CP007_HUMAN&from=509&to=626&var=L571M	ENST00000389386		ENSG00000075399	13526		2	2.69		HGNC	p.L571M		VPS9D1		SNV							ENST00000389386	protein_coding	getma.org/?cm=var&var=hg19,16,89774926,G,T&fts=all		Low_complexity_(Seg):seg,PROSITE_profiles:PS51205,hmmpanther:PTHR23101:SF25,hmmpanther:PTHR23101,Pfam_domain:PF02204,SMART_domains:SM00167,Superfamily_domains:0044157		L/M		T	medium	1836/2748		getma.org/?cm=msa&ty=f&p=CP007_HUMAN&rb=509&re=626&var=L571M	deleterious(0)	H3BM58_HUMAN			YES	VPS9D1,missense_variant,p.Leu501Met,ENST00000561976,;VPS9D1,missense_variant,p.Leu571Met,ENST00000389386,NM_004913.2;VPS9D1,missense_variant,p.Leu172Met,ENST00000565023,;VPS9D1-AS1,upstream_gene_variant,,ENST00000562866,;VPS9D1,downstream_gene_variant,,ENST00000565452,;VPS9D1,downstream_gene_variant,,ENST00000568691,;VPS9D1,downstream_gene_variant,,ENST00000567379,;VPS9D1,downstream_gene_variant,,ENST00000563798,;							MODERATE	1711/1896	L571M	VP9D1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000374037		CCDS42220.1			1	
ISLR2	0	LGGM	GRCh37	15	74426823	74426823	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	2	.	.	ENST00000361742.3:c.1728C>A	p.His576Gln	p.H576Q	ENST00000361742	NM_001130136.1	576	caC/caA	0	1	1	UPI000004C60F	0	NA	ENST00000361742		ENSG00000167178	29286		5	-0.55		HGNC	p.H576Q		ISLR2		SNV							ENST00000445793	protein_coding	getma.org/?cm=var&var=hg19,15,74426823,C,A&fts=all		hmmpanther:PTHR24366:SF12,hmmpanther:PTHR24366		H/Q		A	neutral	2497/4817		getma.org/?cm=msa&ty=f&p=ISLR2_HUMAN&rb=387&re=743&var=H576Q	tolerated(1)	H3BNZ6_HUMAN,H3BM95_HUMAN,H3BM69_HUMAN			YES	ISLR2,missense_variant,p.His576Gln,ENST00000361742,NM_001130136.1,NM_020851.2;ISLR2,missense_variant,p.His576Gln,ENST00000435464,NM_001130138.1;ISLR2,missense_variant,p.His576Gln,ENST00000445793,;ISLR2,missense_variant,p.His576Gln,ENST00000419208,;ISLR2,missense_variant,p.His576Gln,ENST00000565159,NM_001130137.1;ISLR2,missense_variant,p.His576Gln,ENST00000453268,;ISLR2,missense_variant,p.His576Gln,ENST00000565540,;ISLR2,downstream_gene_variant,,ENST00000569886,;ISLR2,downstream_gene_variant,,ENST00000561740,;ISLR2,downstream_gene_variant,,ENST00000567206,;ISLR2,downstream_gene_variant,,ENST00000565332,;ISLR2,intron_variant,,ENST00000561975,;ISLR2,downstream_gene_variant,,ENST00000565068,;							MODERATE	1728/2238	H576Q	ISLR2_HUMAN			Transcript		possibly_damaging(0.6)	.	ENSP00000355402		CCDS10259.1			1	
FBXO10	0	LGGM	GRCh37	9	37518436	37518436	+	splice_acceptor_variant	Splice_Site	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	36	3	.	.	ENST00000432825.2:c.2201-1G>T		p.X734_splice	ENST00000432825	NM_012166.2			0	1	1	UPI00001C1EC6	0		ENST00000432825		ENSG00000147912	13589		39			HGNC	-		FBXO10		SNV							ENST00000432825	protein_coding							A		-/4575				Q08AL4_HUMAN,F5GXN9_HUMAN			YES	FBXO10,splice_acceptor_variant,,ENST00000432825,NM_012166.2;FBXO10,splice_acceptor_variant,,ENST00000541829,;RP11-613M10.8,splice_acceptor_variant,,ENST00000544475,;RP11-613M10.8,splice_acceptor_variant,,ENST00000541804,;FBXO10,downstream_gene_variant,,ENST00000543968,;FBXO10,downstream_gene_variant,,ENST00000544208,;FBXO10,splice_acceptor_variant,,ENST00000276960,;							HIGH	2201/2871		FBX10_HUMAN			Transcript			.	ENSP00000403802		CCDS47966.1			1	
COQ7	0	LGGM	GRCh37	16	19087080	19087080	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	31	3	.	.	ENST00000321998.5:c.405G>T	p.Met135Ile	p.M135I	ENST00000321998	NM_016138.4	135	atG/atT	0	1	1	UPI000006D56A	0	NA	ENST00000321998		ENSG00000167186	2244		34	3.78		HGNC	p.M97I		COQ7		SNV							ENST00000544894	protein_coding	getma.org/?cm=var&var=hg19,16,19087080,G,T&fts=all		hmmpanther:PTHR11237,Gene3D:1.20.1260.10,Pfam_domain:PF03232,Superfamily_domains:SSF47240		M/I		T	high	471/2657		getma.org/?cm=msa&ty=f&p=COQ7_HUMAN&rb=47&re=217&var=M135I	deleterious(0)	H3BTN8_HUMAN,H3BSZ3_HUMAN			YES	COQ7,missense_variant,p.Met135Ile,ENST00000321998,NM_016138.4;COQ7,missense_variant,p.Met112Ile,ENST00000569127,;COQ7,missense_variant,p.Met97Ile,ENST00000544894,NM_001190983.1;COQ7,missense_variant,p.Met97Ile,ENST00000561858,;COQ7,missense_variant,p.Met135Ile,ENST00000568985,;COQ7,missense_variant,p.Met97Ile,ENST00000566110,;COQ7,upstream_gene_variant,,ENST00000567314,;COQ7,upstream_gene_variant,,ENST00000569259,;COQ7,missense_variant,p.Trp97Leu,ENST00000566049,;COQ7,3_prime_UTR_variant,,ENST00000569312,;COQ7,downstream_gene_variant,,ENST00000564746,;							MODERATE	405/654	M135I	COQ7_HUMAN			Transcript		probably_damaging(0.993)	.	ENSP00000322316		CCDS10574.1			1	
MAP1B	0	LGGM	GRCh37	5	71489696	71489696	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	47	3	.	.	ENST00000296755.7:c.514G>T	p.Gly172Trp	p.G172W	ENST00000296755	NM_005909.3	172	Ggg/Tgg	0	1	1	UPI000013E382	0	NA	ENST00000296755		ENSG00000131711	6836		50	1.905		HGNC	p.G172W		MAP1B		SNV							ENST00000296755	protein_coding	getma.org/?cm=var&var=hg19,5,71489696,G,T&fts=all		hmmpanther:PTHR13843,hmmpanther:PTHR13843:SF5		G/W		T	medium	812/12034		getma.org/?cm=msa&ty=f&p=MAP1B_HUMAN&rb=1&re=561&var=G172W		D6RGJ3_HUMAN,D6RA40_HUMAN			YES	MAP1B,missense_variant,p.Gly172Trp,ENST00000296755,NM_005909.3;MAP1B,missense_variant,p.Gly46Trp,ENST00000504492,;MAP1B,missense_variant,p.Gly189Trp,ENST00000511641,;MAP1B,3_prime_UTR_variant,,ENST00000513526,;							MODERATE	514/7407	G172W	MAP1B_HUMAN			Transcript		unknown(0)	.	ENSP00000296755		CCDS4012.1			1	
ITIH4	0	LGGM	GRCh37	3	52853930	52853930	+	3_prime_UTR_variant,NMD_transcript_variant	3'UTR	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	37	3	.	.	ENST00000468472.1:c.*2070G>T		*690*	ENST00000468472				0	1	1	UPI000013D6C3	0		ENST00000266041		ENSG00000055955	6169		40			HGNC	p.R558S		ITIH4		SNV							ENST00000434759	protein_coding							A		-/3336							YES	ITIH4,missense_variant,p.Arg558Ser,ENST00000434759,;ITIH4,intron_variant,,ENST00000266041,NM_002218.4;ITIH4,intron_variant,,ENST00000346281,NM_001166449.1;ITIH4,intron_variant,,ENST00000485816,;ITIH4,intron_variant,,ENST00000406595,;ITIH4,intron_variant,,ENST00000441637,;ITIH4-AS1,upstream_gene_variant,,ENST00000478366,;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,,ENST00000537897,;ITIH4,upstream_gene_variant,,ENST00000461966,;ITIH4,upstream_gene_variant,,ENST00000481977,;ITIH4,downstream_gene_variant,,ENST00000483372,;ITIH4,downstream_gene_variant,,ENST00000485894,;							MODIFIER	-/2793		ITIH4_HUMAN			Transcript			.	ENSP00000266041		CCDS2865.1			1	
ATG2A	0	LGGM	GRCh37	11	64669537	64669537	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	29	3	.	.	ENST00000377264.3:c.4016C>A	p.Ser1339Ter	p.S1339*	ENST00000377264	NM_015104.2	1339	tCa/tAa	0	1	1	UPI00001C1F21	0	NA	ENST00000377264		ENSG00000110046	29028		32	0		HGNC	p.S1341X		ATG2A		SNV							ENST00000421419	protein_coding	getma.org/?cm=var&var=hg19,11,64669537,G,T&fts=all		hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF18,Low_complexity_(Seg):seg		S/*		T	NA	4129/6357		NA		B4DV45_HUMAN			YES	ATG2A,stop_gained,p.Ser1341Ter,ENST00000421419,;ATG2A,stop_gained,p.Ser1339Ter,ENST00000377264,NM_015104.2;ATG2A,stop_gained,p.Ser1143Ter,ENST00000418259,;ATG2A,upstream_gene_variant,,ENST00000472525,;							HIGH	4016/5817	S1339*	ATG2A_HUMAN			Transcript			.	ENSP00000366475		CCDS31602.1			1	
NXF1	0	LGGM	GRCh37	11	62561766	62561766	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	25	3	.	.	ENST00000532297.1:c.1724C>A	p.Ser575Tyr	p.S575Y	ENST00000532297		575	tCt/tAt	0	1		UPI00000012B9	0	getma.org/pdb.php?prot=NXF1_HUMAN&from=568&to=618&var=S575Y	ENST00000294172		ENSG00000162231	8071		28	3.245		HGNC	p.S575Y		NXF1		SNV							ENST00000294172	protein_coding	getma.org/?cm=var&var=hg19,11,62561766,G,T&fts=all		PROSITE_profiles:PS51281,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF27,Pfam_domain:PF03943,Gene3D:1.10.8.10,SMART_domains:SM00804,Superfamily_domains:SSF46934		S/Y		T	medium	1860/2346		getma.org/?cm=msa&ty=f&p=NXF1_HUMAN&rb=568&re=618&var=S575Y	deleterious(0.02)	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN				NXF1,missense_variant,p.Ser575Tyr,ENST00000532297,;NXF1,missense_variant,p.Ser575Tyr,ENST00000294172,NM_006362.4;NXF1,missense_variant,p.Ser80Tyr,ENST00000527902,;NXF1,3_prime_UTR_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,non_coding_transcript_exon_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000531579,;NXF1,downstream_gene_variant,,ENST00000526163,;TMEM223,upstream_gene_variant,,ENST00000527073,;NXF1,non_coding_transcript_exon_variant,,ENST00000533499,;NXF1,non_coding_transcript_exon_variant,,ENST00000527497,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533440,;NXF1,downstream_gene_variant,,ENST00000531872,;							MODERATE	1724/1860	S575Y	NXF1_HUMAN			Transcript		benign(0.279)	.	ENSP00000294172		CCDS8037.1			1	
FAM47A	0	LGGM	GRCh37	X	34148741	34148741	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	21	3	.	.	ENST00000346193.3:c.1655G>T	p.Arg552Leu	p.R552L	ENST00000346193	NM_203408.3	552	cGg/cTg	0	1	1	UPI000013F1F4	0	NA	ENST00000346193		ENSG00000185448	29962		24	0.69		HGNC	p.R552L		FAM47A		SNV							ENST00000346193	protein_coding	getma.org/?cm=var&var=hg19,X,34148741,C,A&fts=all		hmmpanther:PTHR23213:SF200,hmmpanther:PTHR23213,Pfam_domain:PF14642		R/L		A	neutral	1707/2579		getma.org/?cm=msa&ty=f&p=FA47A_HUMAN&rb=171&re=579&var=R552L	tolerated(0.14)				YES	FAM47A,missense_variant,p.Arg552Leu,ENST00000346193,NM_203408.3;							MODERATE	1655/2376	R552L	FA47A_HUMAN			Transcript		possibly_damaging(0.858)	.	ENSP00000345029		CCDS43926.1			1	
RBM24	0	LGGM	GRCh37	6	17283041	17283041	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	39	3	.	.	ENST00000379052.5:c.174C>A	p.Thr58=	p.T58=	ENST00000379052	NM_001143942.1	58	acC/acA	0	1	1	UPI000006E912	0		ENST00000379052		ENSG00000112183	21539		42			HGNC	p.T13T		RBM24		SNV							ENST00000318204	protein_coding			PROSITE_profiles:PS50102,hmmpanther:PTHR24011,hmmpanther:PTHR24011:SF249,Pfam_domain:PF00076,Gene3D:3.30.70.330,SMART_domains:SM00360,Superfamily_domains:SSF54928		T		A		410/2703				A8KAI7_HUMAN			YES	RBM24,synonymous_variant,p.=,ENST00000379052,NM_001143942.1;RBM24,synonymous_variant,p.=,ENST00000318204,NM_153020.2;RBM24,synonymous_variant,p.=,ENST00000509686,;RBM24,synonymous_variant,p.=,ENST00000503965,;RBM24,5_prime_UTR_variant,,ENST00000425446,NM_001143941.1;RBM24,upstream_gene_variant,,ENST00000504055,;							LOW	174/711		RBM24_HUMAN			Transcript			.	ENSP00000368341		CCDS47378.1			1	
ADH7	0	LGGM	GRCh37	4	100349782	100349782	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	40	3	.	.	ENST00000476959.1:c.186G>T	p.Leu62Phe	p.L62F	ENST00000476959	NM_001166504.1	62	ttG/ttT	0	1		UPI000016A4A6	0	getma.org/pdb.php?prot=ADH7_HUMAN&from=46&to=172&var=L54F	ENST00000209665		ENSG00000196344	256		43	2.66		HGNC	p.L54F		ADH7		SNV							ENST00000209665	protein_coding	getma.org/?cm=var&var=hg19,4,100349782,C,A&fts=all		Gene3D:3.90.180.10,Pfam_domain:PF08240,hmmpanther:PTHR11695,hmmpanther:PTHR11695:SF406,Superfamily_domains:SSF50129		L/F		A	medium	403/2289		getma.org/?cm=msa&ty=f&p=ADH7_HUMAN&rb=46&re=172&var=L54F	deleterious(0.03)	E9PFG0_HUMAN,C9JP14_HUMAN,B4DWS1_HUMAN				ADH7,missense_variant,p.Leu42Phe,ENST00000437033,;ADH7,missense_variant,p.Leu54Phe,ENST00000209665,NM_000673.4;ADH7,missense_variant,p.Leu62Phe,ENST00000476959,NM_001166504.1;ADH7,5_prime_UTR_variant,,ENST00000482593,;ADH7,5_prime_UTR_variant,,ENST00000474027,;							MODERATE	162/1161	L54F	ADH7_HUMAN			Transcript		possibly_damaging(0.787)	.	ENSP00000209665		CCDS34034.1			1	
AK5	0	LGGM	GRCh37	1	78001674	78001674	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	44	3	.	.	ENST00000354567.2:c.1571C>A	p.Ala524Glu	p.A524E	ENST00000354567	NM_174858.2	524	gCg/gAg	0	1	1	UPI0000167E20	0	getma.org/pdb.php?prot=KAD5_HUMAN&from=381&to=537&var=A524E	ENST00000354567		ENSG00000154027	365		47	-0.35		HGNC	p.A524E	rs751611594	AK5		SNV							ENST00000354567	protein_coding	getma.org/?cm=var&var=hg19,1,78001674,C,A&fts=all		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		A/E		A	neutral	1834/3248	3.01E-05	getma.org/?cm=msa&ty=f&p=KAD5_HUMAN&rb=381&re=537&var=A524E	tolerated(0.44)	E9PQQ8_HUMAN,E9PIS7_HUMAN			YES	AK5,missense_variant,p.Ala498Glu,ENST00000344720,NM_012093.3;AK5,missense_variant,p.Ala524Glu,ENST00000354567,NM_174858.2;AK5,missense_variant,p.Ala39Glu,ENST00000478255,;AK5,downstream_gene_variant,,ENST00000530826,;AK5,upstream_gene_variant,,ENST00000466393,;AK5,3_prime_UTR_variant,,ENST00000527263,;							MODERATE	1571/1689	A524E	KAD5_HUMAN			Transcript		benign(0.31)	.	ENSP00000346577	1.65E-05	CCDS675.1			1	
PPEF2	0	LGGM	GRCh37	4	76804339	76804339	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	16	3	.	.	ENST00000286719.7:c.763G>T	p.Glu255Ter	p.E255*	ENST00000286719	NM_006239.2	255	Gaa/Taa	0	1	1	UPI0000163923	0	NA	ENST00000286719		ENSG00000156194	9244		19	0		HGNC	p.E255X		PPEF2		SNV							ENST00000286719	protein_coding	getma.org/?cm=var&var=hg19,4,76804339,C,A&fts=all		Prints_domain:PR00114,Superfamily_domains:SSF56300,PIRSF_domain:PIRSF000912,SMART_domains:SM00156,Pfam_domain:PF00149,Gene3D:3.60.21.10,hmmpanther:PTHR11668,hmmpanther:PTHR11668:SF214		E/*		A	NA	1120/3414		NA		E7EPQ9_HUMAN			YES	PPEF2,stop_gained,p.Glu255Ter,ENST00000286719,NM_006239.2;PPEF2,3_prime_UTR_variant,,ENST00000511880,;PPEF2,non_coding_transcript_exon_variant,,ENST00000513324,;PPEF2,non_coding_transcript_exon_variant,,ENST00000515552,;							HIGH	763/2262	E255*	PPE2_HUMAN			Transcript			.	ENSP00000286719		CCDS34013.1			1	
VPS33A	0	LGGM	GRCh37	12	122745816	122745816	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	39	3	.	.	ENST00000267199.4:c.475G>T	p.Ala159Ser	p.A159S	ENST00000267199	NM_022916.4	159	Gca/Tca	0	1	1	UPI000000D7AA	0	getma.org/pdb.php?prot=VP33A_HUMAN&from=33&to=591&var=A159S	ENST00000267199		ENSG00000139719	18179		42	0.07		HGNC	p.A159S		VPS33A		SNV							ENST00000451053	protein_coding	getma.org/?cm=var&var=hg19,12,122745816,C,A&fts=all		Gene3D:3.40.50.1910,Pfam_domain:PF00995,hmmpanther:PTHR11679,hmmpanther:PTHR11679:SF31,Superfamily_domains:SSF56815		A/S		A	neutral	588/4586		getma.org/?cm=msa&ty=f&p=VP33A_HUMAN&rb=33&re=591&var=A159S	tolerated(0.49)	Q9H6C4_HUMAN			YES	VPS33A,missense_variant,p.Ala159Ser,ENST00000267199,NM_022916.4;VPS33A,missense_variant,p.Ala159Ser,ENST00000451053,;VPS33A,non_coding_transcript_exon_variant,,ENST00000542310,;RP11-512M8.5,missense_variant,p.Ala159Ser,ENST00000535844,;VPS33A,3_prime_UTR_variant,,ENST00000543633,;VPS33A,non_coding_transcript_exon_variant,,ENST00000544349,;							MODERATE	475/1791	A159S	VP33A_HUMAN			Transcript		benign(0.032)	.	ENSP00000267199		CCDS9231.1			1	
NXF1	0	LGGM	GRCh37	11	62561754	62561754	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	26	3	.	.	ENST00000532297.1:c.1736G>T	p.Gly579Val	p.G579V	ENST00000532297		579	gGc/gTc	0	1		UPI00000012B9	0	getma.org/pdb.php?prot=NXF1_HUMAN&from=568&to=618&var=G579V	ENST00000294172		ENSG00000162231	8071		29	3.205		HGNC	p.G579V		NXF1		SNV							ENST00000294172	protein_coding	getma.org/?cm=var&var=hg19,11,62561754,C,A&fts=all		PROSITE_profiles:PS51281,hmmpanther:PTHR10662,hmmpanther:PTHR10662:SF27,Pfam_domain:PF03943,Gene3D:1.10.8.10,SMART_domains:SM00804,Superfamily_domains:SSF46934		G/V		A	medium	1872/2346		getma.org/?cm=msa&ty=f&p=NXF1_HUMAN&rb=568&re=618&var=G579V	deleterious(0)	Q68CW9_HUMAN,E9PMV7_HUMAN,E9PLA7_HUMAN				NXF1,missense_variant,p.Gly579Val,ENST00000532297,;NXF1,missense_variant,p.Gly579Val,ENST00000294172,NM_006362.4;NXF1,missense_variant,p.Gly84Val,ENST00000527902,;NXF1,3_prime_UTR_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,non_coding_transcript_exon_variant,,ENST00000533048,;NXF1,downstream_gene_variant,,ENST00000531579,;NXF1,downstream_gene_variant,,ENST00000526163,;TMEM223,upstream_gene_variant,,ENST00000527073,;NXF1,non_coding_transcript_exon_variant,,ENST00000533499,;NXF1,non_coding_transcript_exon_variant,,ENST00000527497,;TMEM179B,downstream_gene_variant,,ENST00000532345,;TMEM179B,downstream_gene_variant,,ENST00000532586,;NXF1,downstream_gene_variant,,ENST00000533440,;NXF1,downstream_gene_variant,,ENST00000531872,;							MODERATE	1736/1860	G579V	NXF1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000294172		CCDS8037.1			1	
FSCB	0	LGGM	GRCh37	14	44974723	44974723	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	30	3	.	.	ENST00000340446.4:c.1468G>A	p.Glu490Lys	p.E490K	ENST00000340446	NM_032135.3	490	Gaa/Aaa	0	1	1	UPI00001FD466	0	NA	ENST00000340446		ENSG00000189139	20494		33	1.59		HGNC	p.E490K	rs376664572	FSCB		SNV	T:0.0002			0.000101			ENST00000340446	protein_coding	getma.org/?cm=var&var=hg19,14,44974723,C,T&fts=all		Low_complexity_(Seg):seg		E/K	T:0	T	low	1760/2938		getma.org/?cm=msa&ty=f&p=FSCB_HUMAN&rb=1&re=823&var=E490K	tolerated(0.11)				YES	FSCB,missense_variant,p.Glu490Lys,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,;							MODERATE	1468/2478	E490K	FSCB_HUMAN			Transcript		benign(0.004)	.	ENSP00000344579	8.24E-06	CCDS9679.1			1	
ZNF536	0	LGGM	GRCh37	19	30935719	30935719	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	31	3	.	.	ENST00000355537.3:c.1250G>A	p.Gly417Asp	p.G417D	ENST00000355537	NM_014717.1	417	gGc/gAc	0	1	1	UPI000006ED3E	0	NA	ENST00000355537		ENSG00000198597	29025		34	0.695		HGNC	p.G417D	COSM1129910	ZNF536		SNV						1	ENST00000585628	protein_coding	getma.org/?cm=var&var=hg19,19,30935719,G,A&fts=all		hmmpanther:PTHR23233,hmmpanther:PTHR23233:SF5		G/D		A	neutral	1397/4945		getma.org/?cm=msa&ty=f&p=ZN536_HUMAN&rb=411&re=469&var=G417D	tolerated(0.5)	K7EKT4_HUMAN,K7EJP8_HUMAN			YES	ZNF536,missense_variant,p.Gly417Asp,ENST00000355537,NM_014717.1;ZNF536,missense_variant,p.Gly417Asp,ENST00000585628,;ZNF536,downstream_gene_variant,,ENST00000591488,;					1		MODERATE	1250/3903	G417D	ZN536_HUMAN			Transcript		benign(0.092)	.	ENSP00000347730		CCDS32984.1			1	
APBA2	0	LGGM	GRCh37	15	29346694	29346694	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	3	.	.	ENST00000558402.1:c.607G>T	p.Gly203Trp	p.G203W	ENST00000558402		203	Ggg/Tgg	0	1		UPI0000046798	0	NA	ENST00000558259		ENSG00000034053	579		17	1.955		HGNC	p.G203W		APBA2		SNV							ENST00000558358	protein_coding	getma.org/?cm=var&var=hg19,15,29346694,G,T&fts=all		hmmpanther:PTHR12345,hmmpanther:PTHR12345:SF12		G/W		T	medium	814/3635		getma.org/?cm=msa&ty=f&p=APBA2_HUMAN&rb=201&re=371&var=G203W	deleterious_low_confidence(0)	H0YNG7_HUMAN,H0YNE8_HUMAN,H0YMS0_HUMAN,H0YL28_HUMAN				APBA2,missense_variant,p.Gly203Trp,ENST00000558402,;APBA2,missense_variant,p.Gly203Trp,ENST00000558259,NM_005503.3;APBA2,missense_variant,p.Gly203Trp,ENST00000411764,NM_001130414.1;APBA2,missense_variant,p.Gly203Trp,ENST00000558330,;APBA2,missense_variant,p.Gly203Trp,ENST00000561069,;APBA2,missense_variant,p.Gly203Trp,ENST00000558358,;APBA2,downstream_gene_variant,,ENST00000560283,;APBA2,downstream_gene_variant,,ENST00000559709,;APBA2,downstream_gene_variant,,ENST00000558206,;APBA2,downstream_gene_variant,,ENST00000558804,;APBA2,non_coding_transcript_exon_variant,,ENST00000559814,;							MODERATE	607/2250	G203W	APBA2_HUMAN			Transcript		probably_damaging(0.984)	.	ENSP00000454171		CCDS10022.1			1	
ALPL	0	LGGM	GRCh37	1	21903944	21903944	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	13	3	.	.	ENST00000374840.3:c.1378G>T	p.Ala460Ser	p.A460S	ENST00000374840	NM_000478.4	460	Gcc/Tcc	0	1		UPI000013E17C	0	getma.org/pdb.php?prot=PPBT_HUMAN&from=51&to=490&var=A460S	ENST00000374832		ENSG00000162551	438		16	2.225		HGNC	p.A460S		ALPL		SNV			1				ENST00000374840	protein_coding	getma.org/?cm=var&var=hg19,1,21903944,G,T&fts=all		Gene3D:3.40.720.10,Pfam_domain:PF00245,hmmpanther:PTHR11596,hmmpanther:PTHR11596:SF33,SMART_domains:SM00098,Superfamily_domains:SSF53649		A/S		T	medium	1632/2193		getma.org/?cm=msa&ty=f&p=PPBT_HUMAN&rb=51&re=490&var=A460S	deleterious(0.04)	B1ANL0_HUMAN				ALPL,missense_variant,p.Ala460Ser,ENST00000374840,NM_000478.4;ALPL,missense_variant,p.Ala405Ser,ENST00000540617,NM_001127501.2;ALPL,missense_variant,p.Ala460Ser,ENST00000425315,;ALPL,missense_variant,p.Ala383Ser,ENST00000539907,NM_001177520.1;ALPL,missense_variant,p.Ala460Ser,ENST00000374832,;ALPL,missense_variant,p.Ala106Ser,ENST00000374829,;ALPL,missense_variant,p.Ala106Ser,ENST00000374830,;							MODERATE	1378/1575	A460S	PPBT_HUMAN			Transcript		probably_damaging(0.98)	.	ENSP00000363965		CCDS217.1			1	
MAPK10	0	LGGM	GRCh37	4	87022226	87022226	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	3	.	.	ENST00000359221.3:c.709G>T	p.Gly237Trp	p.G237W	ENST00000359221		237	Ggg/Tgg	0	1	1	UPI0000049042	0	getma.org/pdb.php?prot=MK10_HUMAN&from=64&to=359&var=G237W	ENST00000359221		ENSG00000109339	6872		17	3.43		HGNC	p.G237W		MAPK10		SNV			1				ENST00000395161	protein_coding	getma.org/?cm=var&var=hg19,4,87022226,C,A&fts=all		Gene3D:1.10.510.10,Pfam_domain:PF00069,Prints_domain:PR01772,PROSITE_profiles:PS50011,hmmpanther:PTHR24055,hmmpanther:PTHR24055:SF162,SMART_domains:SM00220,Superfamily_domains:SSF56112		G/W		A	medium	1236/2672		getma.org/?cm=msa&ty=f&p=MK10_HUMAN&rb=64&re=359&var=G237W	deleterious(0.04)	D6RJF9_HUMAN,D6RFZ7_HUMAN,D6RFX8_HUMAN,D6RDG1_HUMAN,D6RCB1_HUMAN,D6RC26_HUMAN,D6RBH2_HUMAN,D6RAU3_HUMAN,D6RAJ0_HUMAN,D6R9C1_HUMAN,B3KR72_HUMAN,A8MWW6_HUMAN			YES	MAPK10,missense_variant,p.Gly199Trp,ENST00000395169,NM_138980.2,NM_138982.2;MAPK10,missense_variant,p.Gly199Trp,ENST00000395166,;MAPK10,missense_variant,p.Gly237Trp,ENST00000359221,;MAPK10,missense_variant,p.Gly92Trp,ENST00000449047,;MAPK10,missense_variant,p.Gly237Trp,ENST00000361569,NM_002753.3;MAPK10,missense_variant,p.Gly92Trp,ENST00000395160,NM_138981.2;MAPK10,missense_variant,p.Gly237Trp,ENST00000395161,;MAPK10,missense_variant,p.Gly92Trp,ENST00000395157,;MAPK10,missense_variant,p.Gly150Trp,ENST00000515400,;MAPK10,downstream_gene_variant,,ENST00000512017,;MAPK10,non_coding_transcript_exon_variant,,ENST00000479377,;MAPK10,non_coding_transcript_exon_variant,,ENST00000468020,;MAPK10,non_coding_transcript_exon_variant,,ENST00000472236,;MAPK10,downstream_gene_variant,,ENST00000513839,;MAPK10,downstream_gene_variant,,ENST00000486985,;MAPK10,3_prime_UTR_variant,,ENST00000310816,;MAPK10,upstream_gene_variant,,ENST00000508262,;MAPK10,downstream_gene_variant,,ENST00000430389,;							MODERATE	709/1395	G237W	MK10_HUMAN			Transcript		probably_damaging(0.996)	.	ENSP00000352157		CCDS34026.1			1	
ELFN2	0	LGGM	GRCh37	22	37771082	37771082	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	9	3	.	.	ENST00000402918.2:c.493C>T	p.Arg165Cys	p.R165C	ENST00000402918	NM_052906.3	165	Cgc/Tgc	0	1	1	UPI000004E87D	0	getma.org/pdb.php?prot=PPR29_HUMAN&from=1&to=200&var=R165C	ENST00000402918		ENSG00000166897	29396		12	1.66		HGNC	p.R165C		ELFN2		SNV							ENST00000402918	protein_coding	getma.org/?cm=var&var=hg19,22,37771082,G,A&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR24367:SF248,hmmpanther:PTHR24367,Gene3D:3.80.10.10,SMART_domains:SM00369,Superfamily_domains:SSF52058		R/C		A	low	1279/8361		getma.org/?cm=msa&ty=f&p=PPR29_HUMAN&rb=1&re=200&var=R165C	deleterious(0.01)				YES	ELFN2,missense_variant,p.Arg165Cys,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,;							MODERATE	493/2463	R165C	PPR29_HUMAN			Transcript		probably_damaging(0.953)	.	ENSP00000385277		CCDS33642.1			1	
TENM2	0	LGGM	GRCh37	5	167671509	167671509	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	43	3	.	.	ENST00000518659.1:c.5605C>A	p.Leu1869Met	p.L1869M	ENST00000518659	NM_001122679.1	1869	Ctg/Atg	0	1	1	UPI0001C48FC2	0	NA	ENST00000518659		ENSG00000145934	29943		46	2.67		HGNC	p.L1630M		TENM2		SNV							ENST00000520394	protein_coding	getma.org/?cm=var&var=hg19,5,167671509,C,A&fts=all		hmmpanther:PTHR11219,hmmpanther:PTHR11219:SF8		L/M		A	medium	5644/8550		getma.org/?cm=msa&ty=f&p=TEN2_HUMAN&rb=1749&re=1948&var=L1869M	deleterious(0)	G8BLJ6_HUMAN,G3CAS7_HUMAN			YES	TENM2,missense_variant,p.Leu1748Met,ENST00000519204,;TENM2,missense_variant,p.Leu1693Met,ENST00000403607,;TENM2,missense_variant,p.Leu1869Met,ENST00000518659,NM_001122679.1;TENM2,missense_variant,p.Leu1868Met,ENST00000545108,;TENM2,missense_variant,p.Leu1630Met,ENST00000520394,;TENM2,downstream_gene_variant,,ENST00000517941,;							MODERATE	5605/8325	L1869M	TEN2_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000429430					1	
SLC12A6	0	LGGM	GRCh37	15	34628670	34628670	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	19	3	.	.	ENST00000354181.3:c.212C>A	p.Ala71Glu	p.A71E	ENST00000354181		71	gCa/gAa	0	1	1	UPI0000135427	0	NA	ENST00000354181		ENSG00000140199	10914		22	0		HGNC	p.A12E		SLC12A6		SNV			1				ENST00000458406	protein_coding	getma.org/?cm=var&var=hg19,15,34628670,G,T&fts=all				A/E		T	neutral	705/4568		getma.org/?cm=msa&ty=f&p=S12A6_HUMAN&rb=1&re=189&var=A71E	tolerated_low_confidence(0.07)	H0YNJ5_HUMAN,H0YKL8_HUMAN,H0YKJ2_HUMAN,H0YKE6_HUMAN			YES	SLC12A6,missense_variant,p.Ala71Glu,ENST00000354181,;SLC12A6,missense_variant,p.Ala12Glu,ENST00000458406,NM_001042494.1;SLC12A6,missense_variant,p.Ala71Glu,ENST00000560611,NM_133647.1;SLC12A6,missense_variant,p.Ala71Glu,ENST00000397707,NM_001042497.1;SLC12A6,missense_variant,p.Ala12Glu,ENST00000397702,NM_001042495.1;SLC12A6,missense_variant,p.Ala62Glu,ENST00000558589,NM_001042496.1;SLC12A6,missense_variant,p.Ala71Glu,ENST00000558667,;SLC12A6,missense_variant,p.Ala71Glu,ENST00000559236,;SLC12A6,missense_variant,p.Ala62Glu,ENST00000561120,;SLC12A6,missense_variant,p.Ala12Glu,ENST00000559484,;SLC12A6,missense_variant,p.Ala71Glu,ENST00000561080,;SLC12A6,missense_variant,p.Ala71Glu,ENST00000559664,;SLC12A6,missense_variant,p.Ala12Glu,ENST00000559523,;							MODERATE	212/3453	A71E	S12A6_HUMAN			Transcript		benign(0.038)	.	ENSP00000346112		CCDS58352.1			1	
PER1	0	LGGM	GRCh37	17	8050272	8050272	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	34	3	.	.	ENST00000317276.4:c.1678G>T	p.Gly560Cys	p.G560C	ENST00000317276	NM_002616.2	560	Ggc/Tgc	0	1	1	UPI000013FFF5	0	NA	ENST00000317276		ENSG00000179094	8845		37	2.05		HGNC	p.G560C		PER1		SNV							ENST00000317276	protein_coding	getma.org/?cm=var&var=hg19,17,8050272,C,A&fts=all		hmmpanther:PTHR11269,hmmpanther:PTHR11269:SF8		G/C		A	medium	1916/4707		getma.org/?cm=msa&ty=f&p=PER1_HUMAN&rb=460&re=659&var=G560C	deleterious(0)	J3QLQ5_HUMAN,A2I2P6_HUMAN			YES	PER1,missense_variant,p.Gly560Cys,ENST00000317276,NM_002616.2;PER1,missense_variant,p.Gly540Cys,ENST00000581082,;PER1,missense_variant,p.Gly544Cys,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,missense_variant,p.Gly560Cys,ENST00000582719,;PER1,non_coding_transcript_exon_variant,,ENST00000585095,;PER1,non_coding_transcript_exon_variant,,ENST00000577424,;PER1,intron_variant,,ENST00000581395,;PER1,downstream_gene_variant,,ENST00000579065,;PER1,downstream_gene_variant,,ENST00000578223,;PER1,downstream_gene_variant,,ENST00000579203,;PER1,upstream_gene_variant,,ENST00000578950,;PER1,upstream_gene_variant,,ENST00000583677,;PER1,upstream_gene_variant,,ENST00000585284,;PER1,upstream_gene_variant,,ENST00000579098,;							MODERATE	1678/3873	G560C	PER1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000314420		CCDS11131.1			1	
ZSCAN4	0	LGGM	GRCh37	19	58190015	58190015	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	46	3	.	.	ENST00000318203.5:c.1044C>A	p.Gly348=	p.G348=	ENST00000318203	NM_152677.2	348	ggC/ggA	0	1	1	UPI000006E923	0		ENST00000318203		ENSG00000180532	23709		49			HGNC	p.G348G		ZSCAN4		SNV							ENST00000318203	protein_coding			PROSITE_profiles:PS50157,hmmpanther:PTHR23226:SF45,hmmpanther:PTHR23226,PROSITE_patterns:PS00028,Gene3D:3.30.160.60,Pfam_domain:PF13465,SMART_domains:SM00355,Superfamily_domains:SSF57667		G		A		1741/2246							YES	ZSCAN4,synonymous_variant,p.=,ENST00000318203,NM_152677.2;ZNF551,upstream_gene_variant,,ENST00000282296,;ZNF551,upstream_gene_variant,,ENST00000356715,NM_138347.4;ZNF551,upstream_gene_variant,,ENST00000601064,NM_001270938.1;AC003006.7,upstream_gene_variant,,ENST00000594684,;ZNF551,upstream_gene_variant,,ENST00000596085,;ZNF551,upstream_gene_variant,,ENST00000599402,;AC003006.7,upstream_gene_variant,,ENST00000599221,;							LOW	1044/1302		ZSCA4_HUMAN			Transcript			.	ENSP00000321963		CCDS12958.1			1	
UBR4	0	LGGM	GRCh37	1	19477100	19477100	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	39	3	.	.	ENST00000375254.3:c.7401C>A	p.Pro2467=	p.P2467=	ENST00000375254	NM_020765.2	2467	ccC/ccA	0	1	1	UPI000021276F	0		ENST00000375254		ENSG00000127481	30313		42			HGNC	p.P2467P		UBR4		SNV							ENST00000375267	protein_coding			hmmpanther:PTHR21725		P		T		7429/15906				Q96HY5_HUMAN			YES	UBR4,synonymous_variant,p.=,ENST00000375267,;UBR4,synonymous_variant,p.=,ENST00000375254,NM_020765.2;UBR4,synonymous_variant,p.=,ENST00000375217,;UBR4,synonymous_variant,p.=,ENST00000375226,;UBR4,synonymous_variant,p.=,ENST00000417040,;UBR4,synonymous_variant,p.=,ENST00000425413,;UBR4,upstream_gene_variant,,ENST00000465036,;UBR4,downstream_gene_variant,,ENST00000497018,;UBR4,downstream_gene_variant,,ENST00000419533,;							LOW	7401/15552		UBR4_HUMAN			Transcript			.	ENSP00000364403		CCDS189.1			1	
CYP2J2	0	LGGM	GRCh37	1	60370684	60370684	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	13	3	.	.	ENST00000371204.3:c.1050G>T	p.Gln350His	p.Q350H	ENST00000371204	NM_000775.2	350	caG/caT	0	1	1	UPI00001282BF	0	getma.org/pdb.php?prot=CP2J2_HUMAN&from=44&to=498&var=Q350H	ENST00000371204		ENSG00000134716	2634		16	1.06		HGNC	p.Q350H		CYP2J2		SNV							ENST00000371204	protein_coding	getma.org/?cm=var&var=hg19,1,60370684,C,A&fts=all		hmmpanther:PTHR24300,hmmpanther:PTHR24300:SF91,Pfam_domain:PF00067,Gene3D:1.10.630.10,Superfamily_domains:SSF48264		Q/H		A	low	1094/1896		getma.org/?cm=msa&ty=f&p=CP2J2_HUMAN&rb=44&re=498&var=Q350H	tolerated(0.06)	Q96RX4_HUMAN			YES	CYP2J2,missense_variant,p.Gln350His,ENST00000371204,NM_000775.2;CYP2J2,non_coding_transcript_exon_variant,,ENST00000492633,;CYP2J2,non_coding_transcript_exon_variant,,ENST00000469406,;CYP2J2,intron_variant,,ENST00000466095,;CYP2J2,downstream_gene_variant,,ENST00000468257,;							MODERATE	1050/1509	Q350H	CP2J2_HUMAN			Transcript		benign(0.078)	.	ENSP00000360247		CCDS613.1			1	
KAT6B	0	LGGM	GRCh37	10	76780529	76780529	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	38	3	.	.	ENST00000287239.4:c.2819C>A	p.Thr940Asn	p.T940N	ENST00000287239	NM_001256468.1	940	aCc/aAc	0	1	1	UPI000013DEA0	0	getma.org/pdb.php?prot=KAT6B_HUMAN&from=801&to=1000&var=T940N	ENST00000287239		ENSG00000156650	17582		41	1.415		HGNC	p.T648N		KAT6B		SNV			1				ENST00000372724	protein_coding	getma.org/?cm=var&var=hg19,10,76780529,C,A&fts=all		hmmpanther:PTHR10615:SF73,hmmpanther:PTHR10615,Pfam_domain:PF01853,Superfamily_domains:SSF55729		T/N		A	low	3308/8287		getma.org/?cm=msa&ty=f&p=KAT6B_HUMAN&rb=801&re=1000&var=T940N					YES	KAT6B,missense_variant,p.Thr940Asn,ENST00000287239,NM_001256468.1,NM_012330.3;KAT6B,missense_variant,p.Thr757Asn,ENST00000372711,;KAT6B,missense_variant,p.Thr648Asn,ENST00000372724,NM_001256469.1;KAT6B,missense_variant,p.Thr648Asn,ENST00000372725,;KAT6B,missense_variant,p.Thr648Asn,ENST00000372714,;RP11-77G23.2,intron_variant,,ENST00000413431,;RP11-77G23.5,downstream_gene_variant,,ENST00000436608,;KAT6B,non_coding_transcript_exon_variant,,ENST00000490365,;							MODERATE	2819/6222	T940N	KAT6B_HUMAN			Transcript		possibly_damaging(0.557)	.	ENSP00000287239		CCDS7345.1			1	
ZSCAN10	0	LGGM	GRCh37	16	3139789	3139789	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	4	3	.	.	ENST00000252463.2:c.1481C>A	p.Pro494His	p.P494H	ENST00000252463	NM_032805.1	494	cCc/cAc	0	1	1	UPI000006F1B0	0	getma.org/pdb.php?prot=ZSC10_HUMAN&from=481&to=506&var=P494H	ENST00000252463		ENSG00000130182	12997		7	3.23		HGNC	p.P494H		ZSCAN10		SNV							ENST00000252463	protein_coding	getma.org/?cm=var&var=hg19,16,3139789,G,T&fts=all		PROSITE_profiles:PS50157,hmmpanther:PTHR24377:SF139,hmmpanther:PTHR24377,Gene3D:3.30.160.60,Pfam_domain:PF13465,Superfamily_domains:SSF57667		P/H		T	medium	1569/2467		getma.org/?cm=msa&ty=f&p=ZSC10_HUMAN&rb=461&re=526&var=P494H	deleterious(0)	I3L1J3_HUMAN,I3L0Q3_HUMAN			YES	ZSCAN10,missense_variant,p.Pro494His,ENST00000252463,NM_032805.1;ZSCAN10,missense_variant,p.Pro412His,ENST00000538082,NM_001282416.1;ZSCAN10,missense_variant,p.Pro155His,ENST00000575108,NM_001282415.1;ZSCAN10,downstream_gene_variant,,ENST00000576985,;ZSCAN10,downstream_gene_variant,,ENST00000576483,;ZSCAN10,downstream_gene_variant,,ENST00000572548,;ZSCAN10,downstream_gene_variant,,ENST00000572431,;RP11-473M20.9,upstream_gene_variant,,ENST00000571404,;RP11-473M20.9,upstream_gene_variant,,ENST00000574387,;RNU1-22P,downstream_gene_variant,,ENST00000363334,;ZSCAN10,downstream_gene_variant,,ENST00000571903,;ZSCAN10,downstream_gene_variant,,ENST00000577059,;							MODERATE	1481/2178	P494H	ZSC10_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000252463		CCDS10493.1			1	
PMFBP1	0	LGGM	GRCh37	16	72153955	72153955	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	28	3	.	.	ENST00000237353.10:c.2802G>T	p.Gln934His	p.Q934H	ENST00000237353	NM_031293.2	934	caG/caT	0	1	1	UPI0000141554	0	NA	ENST00000237353		ENSG00000118557	17728		31	1.79		HGNC	p.Q934H		PMFBP1		SNV							ENST00000237353	protein_coding	getma.org/?cm=var&var=hg19,16,72153955,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR18881:SF2,hmmpanther:PTHR18881		Q/H		A	low	3064/3527		getma.org/?cm=msa&ty=f&p=PMFBP_HUMAN&rb=721&re=1021&var=Q939H	tolerated(0.09)	F5H4F8_HUMAN,F5H0H9_HUMAN,F5GYR2_HUMAN,F5GXW3_HUMAN			YES	PMFBP1,missense_variant,p.Gln939His,ENST00000537465,;PMFBP1,missense_variant,p.Gln934His,ENST00000237353,NM_031293.2;PMFBP1,missense_variant,p.Gln809His,ENST00000355636,NM_001160213.1;PMFBP1,intron_variant,,ENST00000537792,;PMFBP1,3_prime_UTR_variant,,ENST00000379073,;PMFBP1,downstream_gene_variant,,ENST00000537392,;							MODERATE	2802/3024	Q939H	PMFBP_HUMAN			Transcript		probably_damaging(0.957)	.	ENSP00000237353		CCDS32483.1			1	
BDNF	0	LGGM	GRCh37	11	27680000	27680000	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	46	3	.	.	ENST00000438929.1:c.358C>T	p.Arg120Trp	p.R120W	ENST00000438929	NM_001143810.1	120	Cgg/Tgg	0	1		UPI000000D7A6	0	NA	ENST00000356660		ENSG00000176697	1033		49	2.215		HGNC	p.R38W	rs771341699,COSM4032239,COSM4032238,COSM4032237	BDNF		SNV			1	9.67E-05		0,1,1,1	ENST00000420794	protein_coding	getma.org/?cm=var&var=hg19,11,27680000,G,A&fts=all		PIRSF_domain:PIRSF001789,hmmpanther:PTHR11589,hmmpanther:PTHR11589:SF3		R/W		A	medium	458/4018		getma.org/?cm=msa&ty=f&p=BDNF_HUMAN&rb=1&re=129&var=R38W	deleterious(0)	S5MI63_HUMAN,Q96TC2_HUMAN,Q969N8_HUMAN				BDNF,missense_variant,p.Arg38Trp,ENST00000525528,NM_170735.5;BDNF,missense_variant,p.Arg38Trp,ENST00000439476,NM_001143816.1;BDNF,missense_variant,p.Arg46Trp,ENST00000314915,NM_170731.4;BDNF,missense_variant,p.Arg38Trp,ENST00000420794,NM_001143811.1;BDNF,missense_variant,p.Arg38Trp,ENST00000418212,NM_001143814.1;BDNF,missense_variant,p.Arg38Trp,ENST00000395981,NM_170732.4;BDNF,missense_variant,p.Arg120Trp,ENST00000438929,NM_001143810.1;BDNF,missense_variant,p.Arg38Trp,ENST00000395980,NM_170733.3;BDNF,missense_variant,p.Arg38Trp,ENST00000356660,NM_001709.4;BDNF,missense_variant,p.Arg38Trp,ENST00000533246,NM_001143813.1;BDNF,missense_variant,p.Arg38Trp,ENST00000395978,NM_001143806.1;BDNF,missense_variant,p.Arg53Trp,ENST00000395986,NM_170734.3;BDNF,missense_variant,p.Arg38Trp,ENST00000532997,NM_001143807.1;BDNF,missense_variant,p.Arg38Trp,ENST00000530861,NM_001143812.1;BDNF,missense_variant,p.Arg38Trp,ENST00000533131,;BDNF,missense_variant,p.Arg38Trp,ENST00000525950,NM_001143805.1;BDNF,missense_variant,p.Arg38Trp,ENST00000395983,NM_001143808.1,NM_001143809.1;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000499008,;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000499568,;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000501176,;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000500662,;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000502161,;BDNF-AS,non_coding_transcript_exon_variant,,ENST00000530686,;BDNF-AS,intron_variant,,ENST00000530313,;BDNF-AS,downstream_gene_variant,,ENST00000532965,;BDNF,non_coding_transcript_exon_variant,,ENST00000584049,;BDNF,3_prime_UTR_variant,,ENST00000530786,;					0,1,1,1		MODERATE	112/744	R38W	BDNF_HUMAN			Transcript		possibly_damaging(0.689)	.	ENSP00000349084	1.65E-05	CCDS7866.1	0.0011		1	
NPRL3	0	LGGM	GRCh37	16	169153	169153	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	27	3	.	.	ENST00000399953.3:c.290C>A	p.Pro97Gln	p.P97Q	ENST00000399953	NM_001243247.1	97	cCa/cAa	0	1	1	UPI00004568D2	0		ENST00000399953		ENSG00000103148	14124		30			HGNC	p.P97Q		NPRL3		SNV							ENST00000262313	protein_coding			hmmpanther:PTHR13153,Pfam_domain:PF03666		P/Q		T		693/3008			deleterious(0)				YES	NPRL3,missense_variant,p.Pro97Gln,ENST00000399953,NM_001243247.1,NM_001243248.1,NM_001077350.2,NM_001243249.1;NPRL3,missense_variant,p.Pro110Gln,ENST00000419636,;NPRL3,intron_variant,,ENST00000399951,NM_001039476.2;NPRL3,non_coding_transcript_exon_variant,,ENST00000405960,;NPRL3,non_coding_transcript_exon_variant,,ENST00000428323,;NPRL3,non_coding_transcript_exon_variant,,ENST00000468260,;NPRL3,non_coding_transcript_exon_variant,,ENST00000473674,;NPRL3,3_prime_UTR_variant,,ENST00000457916,;NPRL3,3_prime_UTR_variant,,ENST00000483663,;NPRL3,3_prime_UTR_variant,,ENST00000456528,;NPRL3,intron_variant,,ENST00000445810,;NPRL3,intron_variant,,ENST00000399957,;NPRL3,intron_variant,,ENST00000422814,;							MODERATE	290/1707		NPRL3_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000382834					1	
PKM	0	LGGM	GRCh37	15	72495455	72495455	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	29	3	.	.	ENST00000319622.6:c.1215C>A	p.Ser405=	p.S405=	ENST00000319622	NM_001206796.1	405	tcC/tcA	0	1		UPI0000169DBC	0		ENST00000335181		ENSG00000067225	9021		32			HGNC	p.S405S		PKM		SNV							ENST00000568459	protein_coding							T		-/2318				Q9UKK4_HUMAN,Q8WUW7_HUMAN,H3BUW1_HUMAN,H3BU13_HUMAN,H3BTJ2_HUMAN,H3BT25_HUMAN,H3BN34_HUMAN				PKM,synonymous_variant,p.=,ENST00000319622,NM_001206796.1,NM_182471.2,NM_182470.2;PKM,synonymous_variant,p.=,ENST00000565184,;PKM,synonymous_variant,p.=,ENST00000389093,;PKM,synonymous_variant,p.=,ENST00000565154,;PKM,synonymous_variant,p.=,ENST00000568883,;PKM,synonymous_variant,p.=,ENST00000568459,NM_001206799.1;PKM,synonymous_variant,p.=,ENST00000561609,;PKM,intron_variant,,ENST00000335181,NM_002654.4;PKM,intron_variant,,ENST00000449901,NM_001206798.1;PKM,non_coding_transcript_exon_variant,,ENST00000564440,;PKM,non_coding_transcript_exon_variant,,ENST00000570166,;PKM,intron_variant,,ENST00000567118,;PKM,intron_variant,,ENST00000569857,;PKM,intron_variant,,ENST00000563986,;PKM,upstream_gene_variant,,ENST00000565143,;PKM,downstream_gene_variant,,ENST00000563275,;PKM,downstream_gene_variant,,ENST00000564993,;							MODIFIER	-/1596		KPYM_HUMAN			Transcript			.	ENSP00000334983		CCDS32284.1			1	
MARCO	0	LGGM	GRCh37	2	119726803	119726803	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	32	3	.	.	ENST00000327097.4:c.165G>A	p.Leu55=	p.L55=	ENST00000327097	NM_006770.3	55	ctG/ctA	0	1	1	UPI0000000DF8	0		ENST00000327097		ENSG00000019169	6895		35			HGNC	p.L55L		MARCO		SNV							ENST00000410021	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR24021:SF16,hmmpanther:PTHR24021		L		A		300/1838				Q4ZG40_HUMAN,C9JKT8_HUMAN,B4DW79_HUMAN,B4DLJ6_HUMAN			YES	MARCO,synonymous_variant,p.=,ENST00000327097,NM_006770.3;MARCO,5_prime_UTR_variant,,ENST00000541757,;MARCO,5_prime_UTR_variant,,ENST00000412481,;							LOW	165/1563		MARCO_HUMAN			Transcript			.	ENSP00000318916		CCDS2124.1			1	
TASP1	0	LGGM	GRCh37	20	13610708	13610708	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	22	3	.	.	ENST00000337743.4:c.18G>T	p.Gly6=	p.G6=	ENST00000337743	NM_017714.2	6	ggG/ggT	0	1	1	UPI00000382E5	0		ENST00000337743		ENSG00000089123	15859		25			HGNC	p.G6G		TASP1		SNV							ENST00000337743	protein_coding			hmmpanther:PTHR10188,hmmpanther:PTHR10188:SF8		G		A		139/2352							YES	TASP1,synonymous_variant,p.=,ENST00000337743,NM_017714.2;TASP1,synonymous_variant,p.=,ENST00000455532,;TASP1,synonymous_variant,p.=,ENST00000539805,;TASP1,synonymous_variant,p.=,ENST00000544472,;TASP1,upstream_gene_variant,,ENST00000434275,;TASP1,non_coding_transcript_exon_variant,,ENST00000480436,;TASP1,non_coding_transcript_exon_variant,,ENST00000465381,;TASP1,non_coding_transcript_exon_variant,,ENST00000476108,;TASP1,non_coding_transcript_exon_variant,,ENST00000483898,;							LOW	18/1263		TASP1_HUMAN			Transcript			.	ENSP00000338624		CCDS13116.1			1	
TTK	0	LGGM	GRCh37	6	80717685	80717685	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	47	3	.	.	ENST00000369798.2:c.299C>A	p.Pro100Gln	p.P100Q	ENST00000369798	NM_003318.4	100	cCa/cAa	0	1	1	UPI0000073C7B	0	NA	ENST00000369798		ENSG00000112742	12401		50	1.61		HGNC	p.P100Q		TTK		SNV							ENST00000509894	protein_coding	getma.org/?cm=var&var=hg19,6,80717685,C,A&fts=all		hmmpanther:PTHR22974:SF21,hmmpanther:PTHR22974,Gene3D:1.25.40.10,Superfamily_domains:SSF48452		P/Q		A	low	410/3010		getma.org/?cm=msa&ty=f&p=TTK_HUMAN&rb=1&re=180&var=P100Q	deleterious(0.05)	D6RIC6_HUMAN,D6RF82_HUMAN,D6REX1_HUMAN			YES	TTK,missense_variant,p.Pro100Gln,ENST00000509894,;TTK,missense_variant,p.Pro100Gln,ENST00000230510,;TTK,missense_variant,p.Pro100Gln,ENST00000369798,NM_003318.4,NM_001166691.1;TTK,missense_variant,p.Pro100Gln,ENST00000504040,;TTK,missense_variant,p.Pro100Gln,ENST00000511260,;TTK,missense_variant,p.Pro100Gln,ENST00000502580,;TTK,3_prime_UTR_variant,,ENST00000509313,;TTK,non_coding_transcript_exon_variant,,ENST00000430061,;							MODERATE	299/2574	P100Q	TTK_HUMAN			Transcript		possibly_damaging(0.899)	.	ENSP00000358813		CCDS4993.1			1	
GSDMC	0	LGGM	GRCh37	8	130777998	130777998	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	37	3	.	.	ENST00000276708.4:c.446G>T	p.Arg149Leu	p.R149L	ENST00000276708	NM_031415.2	149	cGg/cTg	0	1	1	UPI0000071445	0	NA	ENST00000276708		ENSG00000147697	7151		40	1.47		HGNC	p.R149L		GSDMC		SNV							ENST00000276708	protein_coding	getma.org/?cm=var&var=hg19,8,130777998,C,A&fts=all		Pfam_domain:PF04598,hmmpanther:PTHR16399,hmmpanther:PTHR16399:SF17		R/L		A	low	1328/2714		getma.org/?cm=msa&ty=f&p=GSDMC_HUMAN&rb=4&re=484&var=R149L	tolerated(0.08)				YES	GSDMC,missense_variant,p.Arg149Leu,ENST00000276708,NM_031415.2;							MODERATE	446/1527	R149L	GSDMC_HUMAN			Transcript		probably_damaging(0.995)	.	ENSP00000276708		CCDS6360.1			1	
LRRTM1	0	LGGM	GRCh37	2	80529529	80529529	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	23	3	.	.	ENST00000295057.3:c.1416G>T	p.Lys472Asn	p.K472N	ENST00000295057	NM_178839.4	472	aaG/aaT	0	1	1	UPI000013E1FE	0	NA	ENST00000295057		ENSG00000162951	19408		26	1.79		HGNC	p.K472N		LRRTM1		SNV							ENST00000295057	protein_coding	getma.org/?cm=var&var=hg19,2,80529529,C,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR24369,hmmpanther:PTHR24369:SF3		K/N		A	low	2073/2599		getma.org/?cm=msa&ty=f&p=LRRT1_HUMAN&rb=420&re=520&var=K472N	deleterious(0.04)	C9JPM9_HUMAN,C9JF97_HUMAN,C9JEE2_HUMAN			YES	LRRTM1,missense_variant,p.Lys472Asn,ENST00000295057,NM_178839.4;LRRTM1,missense_variant,p.Lys472Asn,ENST00000409148,;CTNNA2,intron_variant,,ENST00000466387,;CTNNA2,intron_variant,,ENST00000496558,NM_001164883.1,NM_004389.3,NM_001282598.1;CTNNA2,intron_variant,,ENST00000402739,NM_001282597.1;CTNNA2,intron_variant,,ENST00000541047,;CTNNA2,intron_variant,,ENST00000361291,;CTNNA2,intron_variant,,ENST00000540488,;LRRTM1,downstream_gene_variant,,ENST00000416268,;LRRTM1,downstream_gene_variant,,ENST00000452811,;LRRTM1,downstream_gene_variant,,ENST00000415098,;CTNNA2,upstream_gene_variant,,ENST00000493024,;LRRTM1,missense_variant,p.Lys472Asn,ENST00000433224,;LRRTM1,missense_variant,p.Lys472Asn,ENST00000417012,;							MODERATE	1416/1569	K472N	LRRT1_HUMAN			Transcript		probably_damaging(0.987)	.	ENSP00000295057		CCDS1966.1			1	
PIP5K1C	0	LGGM	GRCh37	19	3648649	3648649	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	15	4	.	.	ENST00000335312.3:c.1185C>T	p.Gly395=	p.G395=	ENST00000335312	NM_012398.2	395	ggC/ggT	0	1	1	UPI000019C574	0		ENST00000335312		ENSG00000186111	8996		19			HGNC	p.G395G		PIP5K1C		SNV			1				ENST00000537021	protein_coding			PROSITE_profiles:PS51455,hmmpanther:PTHR23086,hmmpanther:PTHR23086:SF26,Pfam_domain:PF01504,Gene3D:1bo1A02,SMART_domains:SM00330,Superfamily_domains:SSF56104		G		A		1274/5080				Q7LE22_HUMAN			YES	PIP5K1C,synonymous_variant,p.=,ENST00000335312,NM_012398.2,NM_001195733.1;PIP5K1C,synonymous_variant,p.=,ENST00000537021,;PIP5K1C,synonymous_variant,p.=,ENST00000589578,;PIP5K1C,synonymous_variant,p.=,ENST00000539785,;PIP5K1C,non_coding_transcript_exon_variant,,ENST00000592530,;PIP5K1C,downstream_gene_variant,,ENST00000587482,;							LOW	1185/2007		PI51C_HUMAN			Transcript			.	ENSP00000335333		CCDS32872.1			1	
C1orf226	0	LGGM	GRCh37	1	162353126	162353126	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	47	4	.	.	ENST00000426197.2:c.601C>A	p.Gln201Lys	p.Q201K	ENST00000426197	NM_001135240.1	201	Cag/Aag	0	1		UPI000022AF55	0	NA	ENST00000458626		ENSG00000239887	34351		51	0.805		HGNC	p.Q158K		C1orf226		SNV							ENST00000420220	protein_coding	getma.org/?cm=var&var=hg19,1,162353126,C,A&fts=all		Pfam_domain:PF15429,hmmpanther:PTHR11232,hmmpanther:PTHR11232:SF39		Q/K		A	low	644/4118		getma.org/?cm=msa&ty=f&p=CA226_HUMAN&rb=1&re=200&var=Q158K	tolerated(0.3)	F8W6W0_HUMAN				C1orf226,missense_variant,p.Gln158Lys,ENST00000458626,NM_001085375.1;C1orf226,missense_variant,p.Gln201Lys,ENST00000426197,NM_001135240.1;C1orf226,missense_variant,p.Gln158Lys,ENST00000420220,;RP11-565P22.6,downstream_gene_variant,,ENST00000431696,;NOS1AP,3_prime_UTR_variant,,ENST00000367932,;							MODERATE	472/819	Q158K	CA226_HUMAN			Transcript		benign(0.106)	.	ENSP00000437071		CCDS53422.1			1	
ERV3-1	0	LGGM	GRCh37	7	64452742	64452742	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	93	4	.	.	ENST00000394323.2:c.663G>T	p.Gly221=	p.G221=	ENST00000394323	NM_001007253.3	221	ggG/ggT	0	1	1	UPI000023FEAF	0		ENST00000394323		ENSG00000213462	3454		97			HGNC	p.G221G		ERV3-1		SNV							ENST00000394323	protein_coding			hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF43		G		A		1164/2719							YES	ERV3-1,synonymous_variant,p.=,ENST00000394323,NM_001007253.3;ZNF117,upstream_gene_variant,,ENST00000282869,NM_015852.3;ZNF117,intron_variant,,ENST00000487644,;							LOW	663/1815		ENR1_HUMAN			Transcript			.	ENSP00000391594		CCDS47595.1			1	
BPIFB4	0	LGGM	GRCh37	20	31671616	31671616	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	2	4	.	.	ENST00000375483.3:c.613G>A	p.Gly205Arg	p.G205R	ENST00000375483	NM_182519.2	205	Gga/Aga	0	1	1	UPI0000206190	0	NA	ENST00000375483		ENSG00000186191	16179		6	1.845		HGNC	p.G205R	rs764022928	BPIFB4	0.000121	SNV							ENST00000375483	protein_coding	getma.org/?cm=var&var=hg19,20,31671616,G,A&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR10504:SF78,hmmpanther:PTHR10504,SMART_domains:SM00328		G/R		A	low	613/2159		getma.org/?cm=msa&ty=f&p=BPIB4_HUMAN&rb=201&re=400&var=G205R	deleterious(0.01)				YES	BPIFB4,missense_variant,p.Gly205Arg,ENST00000375483,NM_182519.2;BPIFB4,intron_variant,,ENST00000445356,;							MODERATE	613/1845	G205R	BPIB4_HUMAN			Transcript		probably_damaging(0.936)	.	ENSP00000364632	1.65E-05	CCDS13213.2			1	
CCDC27	0	LGGM	GRCh37	1	3672080	3672080	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	77	4	.	.	ENST00000294600.2:c.502G>A	p.Gly168Ser	p.G168S	ENST00000294600	NM_152492.2	168	Ggc/Agc	0	1	1	UPI000013E186	0	NA	ENST00000294600		ENSG00000162592	26546		81	0.345		HGNC	p.G168S		CCDC27		SNV							ENST00000294600	protein_coding	getma.org/?cm=var&var=hg19,1,3672080,G,A&fts=all		hmmpanther:PTHR18853,hmmpanther:PTHR18853:SF6		G/S		A	neutral	586/2176		getma.org/?cm=msa&ty=f&p=CCD27_HUMAN&rb=41&re=309&var=G168S	tolerated(0.74)				YES	CCDC27,missense_variant,p.Gly168Ser,ENST00000294600,NM_152492.2;CCDC27,missense_variant,p.Gly168Ser,ENST00000462521,;							MODERATE	502/1971	G168S	CCD27_HUMAN			Transcript		benign(0.154)	.	ENSP00000294600		CCDS50.1			1	
RUNX1	0	LGGM	GRCh37	21	36259171	36259171	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	9	4	.	.	ENST00000300305.3:c.320G>A	p.Arg107His	p.R107H	ENST00000300305		107	cGc/cAc	0	1		UPI0000141569	0	getma.org/pdb.php?prot=RUNX1_HUMAN&from=48&to=182&var=R80H	ENST00000344691		ENSG00000159216	10471		13	3.165		HGNC	p.R95H	COSM36056	RUNX1		SNV			1			1	ENST00000325074	protein_coding	getma.org/?cm=var&var=hg19,21,36259171,C,T&fts=all		PROSITE_profiles:PS51062,hmmpanther:PTHR11950,Pfam_domain:PF00853,Gene3D:2.60.40.720,PIRSF_domain:PIRSF009374,Superfamily_domains:SSF49417,Prints_domain:PR00967		R/H		T	medium	1817/7274		getma.org/?cm=msa&ty=f&p=RUNX1_HUMAN&rb=48&re=182&var=R80H	deleterious(0)					RUNX1,missense_variant,p.Arg80His,ENST00000344691,NM_001001890.2;RUNX1,missense_variant,p.Arg107His,ENST00000300305,;RUNX1,missense_variant,p.Arg107His,ENST00000437180,NM_001754.4;RUNX1,missense_variant,p.Arg95His,ENST00000325074,;RUNX1,missense_variant,p.Arg80His,ENST00000358356,NM_001122607.1;RUNX1,missense_variant,p.Arg80His,ENST00000399240,;RUNX1,missense_variant,p.Arg95His,ENST00000399237,;RUNX1,missense_variant,p.Arg83His,ENST00000486278,;RUNX1,missense_variant,p.Arg94His,ENST00000455571,;RUNX1,downstream_gene_variant,,ENST00000475045,;RUNX1,intron_variant,,ENST00000482318,;					1		MODERATE	239/1362	R80H	RUNX1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000340690		CCDS42922.1			1	
ZBTB21	0	LGGM	GRCh37	21	43412258	43412258	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	22	4	.	.	ENST00000310826.5:c.1947G>T	p.Gln649His	p.Q649H	ENST00000310826	NM_001098402.1	649	caG/caT	0	1	1	UPI000013C34D	0	NA	ENST00000310826		ENSG00000173276	13083		26	0.345		HGNC	p.Q649H		ZBTB21		SNV							ENST00000398499	protein_coding	getma.org/?cm=var&var=hg19,21,43412258,C,A&fts=all		hmmpanther:PTHR23228,hmmpanther:PTHR23228:SF8,Low_complexity_(Seg):seg		Q/H		A	neutral	2131/7449		getma.org/?cm=msa&ty=f&p=ZN295_HUMAN&rb=587&re=669&var=Q649H	tolerated(0.28)	Q5KS07_HUMAN,E7EVF9_HUMAN			YES	ZBTB21,missense_variant,p.Gln649His,ENST00000310826,NM_001098402.1;ZBTB21,missense_variant,p.Gln649His,ENST00000398499,;ZBTB21,missense_variant,p.Gln649His,ENST00000398511,NM_020727.4;ZBTB21,intron_variant,,ENST00000398505,NM_001098403.1;ZBTB21,downstream_gene_variant,,ENST00000425521,;ZBTB21,downstream_gene_variant,,ENST00000398497,;ZBTB21,downstream_gene_variant,,ENST00000449949,;ZBTB21,intron_variant,,ENST00000465968,;							MODERATE	1947/3201	Q649H	ZBT21_HUMAN			Transcript		possibly_damaging(0.599)	.	ENSP00000308759		CCDS13678.1			1	
KRT72	0	LGGM	GRCh37	12	52984643	52984643	+	stop_gained	Nonsense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	54	4	.	.	ENST00000293745.2:c.1066G>T	p.Glu356Ter	p.E356*	ENST00000293745	NM_080747.2	356	Gag/Tag	0	1	1	UPI0000055AC8	0	NA	ENST00000293745		ENSG00000170486	28932		58	0		HGNC	p.E356X		KRT72		SNV							ENST00000293745	protein_coding	getma.org/?cm=var&var=hg19,12,52984643,C,A&fts=all		Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR23239:SF86,hmmpanther:PTHR23239,Pfam_domain:PF00038,Gene3D:1.20.5.170,Superfamily_domains:SSF64593		E/*		A	NA	1152/2015		NA		B4DXK4_HUMAN			YES	KRT72,stop_gained,p.Glu356Ter,ENST00000293745,NM_080747.2;KRT72,stop_gained,p.Glu356Ter,ENST00000537672,NM_001146225.1;KRT72,stop_gained,p.Glu168Ter,ENST00000398066,;KRT72,intron_variant,,ENST00000354310,NM_001146226.1;KRT72,3_prime_UTR_variant,,ENST00000550829,;							HIGH	1066/1536	E356*	K2C72_HUMAN			Transcript			.	ENSP00000293745		CCDS8833.1			1	
PRICKLE2	0	LGGM	GRCh37	3	64132562	64132562	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	12	4	.	.	ENST00000295902.6:c.1604C>A	p.Pro535His	p.P535H	ENST00000295902	NM_198859.3	535	cCc/cAc	0	1	1	UPI0000160A8B	0	NA	ENST00000295902		ENSG00000163637	20340		16	1.65		HGNC	p.P535H		PRICKLE2		SNV			1				ENST00000295902	protein_coding	getma.org/?cm=var&var=hg19,3,64132562,G,T&fts=all		hmmpanther:PTHR24218,hmmpanther:PTHR24218:SF5		P/H		T	low	2190/8305		getma.org/?cm=msa&ty=f&p=PRIC2_HUMAN&rb=321&re=842&var=P535H	deleterious(0.03)	C9JY03_HUMAN			YES	PRICKLE2,missense_variant,p.Pro535His,ENST00000295902,NM_198859.3;PRICKLE2,missense_variant,p.Pro591His,ENST00000564377,;							MODERATE	1604/2535	P535H	PRIC2_HUMAN			Transcript		probably_damaging(0.969)	.	ENSP00000295902		CCDS2902.1			1	
PIGR	0	LGGM	GRCh37	1	207108033	207108033	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	33	4	.	.	ENST00000356495.4:c.1437G>T	p.Lys479Asn	p.K479N	ENST00000356495	NM_002644.3	479	aaG/aaT	0	1	1	UPI000007407E	0	getma.org/pdb.php?prot=PIGR_HUMAN&from=461&to=562&var=K479N	ENST00000356495		ENSG00000162896	8968		37	0.77		HGNC	p.K479N		PIGR		SNV							ENST00000356495	protein_coding	getma.org/?cm=var&var=hg19,1,207108033,C,A&fts=all		PROSITE_profiles:PS50835,hmmpanther:PTHR11860:SF44,hmmpanther:PTHR11860,Pfam_domain:PF07686,Gene3D:2.60.40.10,SMART_domains:SM00409,Superfamily_domains:SSF48726		K/N		A	neutral	1621/4279		getma.org/?cm=msa&ty=f&p=PIGR_HUMAN&rb=461&re=562&var=K479N	tolerated(0.29)				YES	PIGR,missense_variant,p.Lys479Asn,ENST00000356495,NM_002644.3;PIGR,upstream_gene_variant,,ENST00000487208,;PIGR,downstream_gene_variant,,ENST00000491503,;							MODERATE	1437/2295	K479N	PIGR_HUMAN			Transcript		benign(0.008)	.	ENSP00000348888		CCDS1474.1			1	
MACF1	0	LGGM	GRCh37	1	39835777	39835777	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	12	4	.	.	ENST00000545844.1:c.6828G>T	p.Leu2276Phe	p.L2276F	ENST00000545844		2276	ttG/ttT	0	1		UPI0001F78894	0	NA	ENST00000372915		ENSG00000127603	13664		16	1.935		HGNC	p.L4338F		MACF1		SNV							ENST00000564288	protein_coding	getma.org/?cm=var&var=hg19,1,39835777,G,T&fts=all		Gene3D:1.20.58.60,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF37,SMART_domains:SM00150,Superfamily_domains:SSF46966		L/F		T	medium	13116/23440		getma.org/?cm=msa&ty=f&p=F8W8Q1_HUMAN&rb=2201&re=2400&var=L2276F		Q8WXY4_HUMAN,Q8WXY3_HUMAN,Q8WXY0_HUMAN,Q8WXX9_HUMAN,B4DNC4_HUMAN				MACF1,missense_variant,p.Leu4338Phe,ENST00000564288,;MACF1,missense_variant,p.Leu4375Phe,ENST00000567887,;MACF1,missense_variant,p.Leu4343Phe,ENST00000372915,;MACF1,missense_variant,p.Leu2778Phe,ENST00000289893,;MACF1,missense_variant,p.Leu2276Phe,ENST00000545844,;MACF1,missense_variant,p.Leu2276Phe,ENST00000317713,;MACF1,missense_variant,p.Leu2276Phe,ENST00000361689,NM_012090.5;MACF1,missense_variant,p.Leu2276Phe,ENST00000539005,;MACF1,missense_variant,p.Leu1410Phe,ENST00000372925,;MACF1,non_coding_transcript_exon_variant,,ENST00000476350,;							MODERATE	13029/22167	L2276F	MACF1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000362006					1	
GRM6	0	LGGM	GRCh37	5	178409911	178409911	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	32	4	.	.	ENST00000231188.5:c.2436G>T	p.Lys812Asn	p.K812N	ENST00000231188	NM_000843.3	812	aaG/aaT	0	1	1	UPI000013C947	0	NA	ENST00000231188		ENSG00000113262	4598		36	1.935		HGNC	p.K812N		GRM6		SNV			1				ENST00000517717	protein_coding	getma.org/?cm=var&var=hg19,5,178409911,C,A&fts=all		Pfam_domain:PF00003,hmmpanther:PTHR24060,hmmpanther:PTHR24060:SF24,PROSITE_profiles:PS50259		K/N		A	medium	2615/6143		getma.org/?cm=msa&ty=f&p=GRM6_HUMAN&rb=595&re=843&var=K812N	tolerated(0.06)				YES	GRM6,missense_variant,p.Lys812Asn,ENST00000231188,NM_000843.3;GRM6,missense_variant,p.Lys812Asn,ENST00000517717,;RP11-281O15.4,intron_variant,,ENST00000519491,;GRM6,non_coding_transcript_exon_variant,,ENST00000519003,;GRM6,downstream_gene_variant,,ENST00000518082,;							MODERATE	2436/2634	K812N	GRM6_HUMAN			Transcript		possibly_damaging(0.827)	.	ENSP00000231188		CCDS4442.1			1	
KRTAP3-3	0	LGGM	GRCh37	17	39150054	39150054	+	stop_retained_variant	Silent	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	47	4	.	.	ENST00000391586.1:c.296A>G	p.Ter99=	p.*99=	ENST00000391586	NM_033185.2	99	tAa/tGa	0	1	1	UPI00000706E5	0		ENST00000391586		ENSG00000212899	18890	8.65E-05	51			HGNC	p.X99X	rs751016790	KRTAP3-3	0.000312	SNV				0.00304			ENST00000391586	protein_coding					*		C		332/700	0.00015						YES	KRTAP3-3,stop_retained_variant,p.=,ENST00000391586,NM_033185.2;	0.000696						LOW	296/297		KRA33_HUMAN			Transcript			common_variant	ENSP00000375428	0.000527	CCDS32643.1			1	
B4GALT7	0	LGGM	GRCh37	5	177034301	177034301	+	splice_acceptor_variant	Splice_Site	SNP	A	A	G	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	6	5	.	.	ENST00000029410.5:c.414-2A>G		p.X138_splice	ENST00000029410	NM_007255.2			0	1	1	UPI00000361E1	0		ENST00000029410		ENSG00000027847	930		11			HGNC	p.Q144R		B4GALT7		SNV			1				ENST00000505433	protein_coding							G		-/1747				H0Y9D6_HUMAN,D6RDJ8_HUMAN,D6RA33_HUMAN,B3KMT1_HUMAN			YES	B4GALT7,splice_acceptor_variant,,ENST00000029410,NM_007255.2;B4GALT7,splice_acceptor_variant,,ENST00000510761,;B4GALT7,splice_acceptor_variant,,ENST00000505468,;B4GALT7,downstream_gene_variant,,ENST00000507061,;RP11-1277A3.1,upstream_gene_variant,,ENST00000499900,;B4GALT7,splice_acceptor_variant,,ENST00000502420,;B4GALT7,missense_variant,p.Gln144Arg,ENST00000505433,;B4GALT7,non_coding_transcript_exon_variant,,ENST00000505145,;B4GALT7,upstream_gene_variant,,ENST00000515353,;							HIGH	414/984		B4GT7_HUMAN			Transcript			.	ENSP00000029410		CCDS4429.1			1	
ERV3-1	0	LGGM	GRCh37	7	64452149	64452149	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	7	5	.	.	ENST00000394323.2:c.1256G>T	p.Trp419Leu	p.W419L	ENST00000394323	NM_001007253.3	419	tGg/tTg	0	1	1	UPI000023FEAF	0	NA	ENST00000394323		ENSG00000213462	3454		12	0		HGNC	p.W419L		ERV3-1		SNV							ENST00000394323	protein_coding	getma.org/?cm=var&var=hg19,7,64452149,C,A&fts=all		hmmpanther:PTHR10424,hmmpanther:PTHR10424:SF43		W/L		A	neutral	1757/2719		getma.org/?cm=msa&ty=f&p=ENR1_HUMAN&rb=370&re=469&var=W419L	tolerated(0.12)				YES	ERV3-1,missense_variant,p.Trp419Leu,ENST00000394323,NM_001007253.3;ZNF117,upstream_gene_variant,,ENST00000282869,NM_015852.3;ZNF117,intron_variant,,ENST00000487644,;							MODERATE	1256/1815	W419L	ENR1_HUMAN			Transcript		probably_damaging(0.919)	.	ENSP00000391594		CCDS47595.1			1	
LGALS9B	0	LGGM	GRCh37	17	20358667	20358667	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	2	5	.	.	ENST00000324290.5:c.489G>A	p.Pro163=	p.P163=	ENST00000324290	NM_001042685.1	163	ccG/ccA	0	1		UPI0000D622DB	0		ENST00000423676		ENSG00000170298	24842		7			HGNC	p.P163P	rs568658049	LGALS9B		SNV				0.000106			ENST00000423676	protein_coding		T:0.0008	hmmpanther:PTHR11346,hmmpanther:PTHR11346:SF91		P		T		553/1713				B4DKP4_HUMAN	T:0	T:0		LGALS9B,synonymous_variant,p.=,ENST00000423676,;LGALS9B,synonymous_variant,p.=,ENST00000324290,NM_001042685.1;LGALS9B,3_prime_UTR_variant,,ENST00000578481,;LGALS9B,upstream_gene_variant,,ENST00000581490,;LGALS9B,upstream_gene_variant,,ENST00000578724,;LGALS9B,downstream_gene_variant,,ENST00000584703,;	0.000122	T:0.0002					LOW	489/1071		LEG9B_HUMAN		T:0	Transcript			.	ENSP00000388841	1.86E-05			T:0	1	
SLC26A10P	0	LGGM	GRCh37	12	58015090	58015090	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	2	5	.	.	ENST00000320442.4:c.435G>T	p.Leu145Phe	p.L145F	ENST00000320442	NM_133489.2	145	ttG/ttT	0	1	1	UPI000007059E	0	NA	ENST00000320442		ENSG00000135502	14470		7	2.785		HGNC	p.L145F		SLC26A10		SNV							ENST00000379218	protein_coding	getma.org/?cm=var&var=hg19,12,58015090,G,T&fts=all		hmmpanther:PTHR11814:SF57,hmmpanther:PTHR11814,Pfam_domain:PF00916		L/F		T	medium	746/2389		getma.org/?cm=msa&ty=f&p=S2610_HUMAN&rb=133&re=411&var=L145F	deleterious(0.01)				YES	SLC26A10,missense_variant,p.Leu145Phe,ENST00000379218,;SLC26A10,missense_variant,p.Leu145Phe,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000341156,NM_001478.4;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,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,missense_variant,p.Leu219Phe,ENST00000474359,;SLC26A10,missense_variant,p.Leu103Phe,ENST00000440686,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000497297,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;ARHGEF25,downstream_gene_variant,,ENST00000471370,;SLC26A10,upstream_gene_variant,,ENST00000487816,;SLC26A10,upstream_gene_variant,,ENST00000474791,;							MODERATE	435/1692	L145F	S2610_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000320217		CCDS8949.2			1	
SLC26A10P	0	LGGM	GRCh37	12	58015089	58015089	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	2	5	.	.	ENST00000320442.4:c.434T>C	p.Leu145Ser	p.L145S	ENST00000320442	NM_133489.2	145	tTg/tCg	0	1	1	UPI000007059E	0	NA	ENST00000320442		ENSG00000135502	14470		7	3.68		HGNC	p.L145S		SLC26A10		SNV							ENST00000379218	protein_coding	getma.org/?cm=var&var=hg19,12,58015089,T,C&fts=all		hmmpanther:PTHR11814:SF57,hmmpanther:PTHR11814,Pfam_domain:PF00916		L/S		C	high	745/2389		getma.org/?cm=msa&ty=f&p=S2610_HUMAN&rb=133&re=411&var=L145S	deleterious(0)				YES	SLC26A10,missense_variant,p.Leu145Ser,ENST00000379218,;SLC26A10,missense_variant,p.Leu145Ser,ENST00000320442,NM_133489.2;B4GALNT1,downstream_gene_variant,,ENST00000341156,NM_001478.4;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,;ARHGEF25,downstream_gene_variant,,ENST00000477314,;SLC26A10,upstream_gene_variant,,ENST00000490243,;SLC26A10,upstream_gene_variant,,ENST00000483647,;SLC26A10,missense_variant,p.Leu219Ser,ENST00000474359,;SLC26A10,missense_variant,p.Leu103Ser,ENST00000440686,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000497297,;SLC26A10,non_coding_transcript_exon_variant,,ENST00000463802,;B4GALNT1,downstream_gene_variant,,ENST00000553142,;B4GALNT1,downstream_gene_variant,,ENST00000552468,;ARHGEF25,downstream_gene_variant,,ENST00000471370,;SLC26A10,upstream_gene_variant,,ENST00000487816,;SLC26A10,upstream_gene_variant,,ENST00000474791,;							MODERATE	434/1692	L145S	S2610_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000320217		CCDS8949.2			1	
FLT4	0	LGGM	GRCh37	5	180030245	180030245	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	7	7	.	.	ENST00000261937.6:c.4039G>A	p.Asp1347Asn	p.D1347N	ENST00000261937	NM_182925.4	1347	Gac/Aac	0	1	1	UPI00001488E7	0	NA	ENST00000261937		ENSG00000037280	3767		14	0.55		HGNC	p.D1347N		FLT4		SNV			1				ENST00000261937	protein_coding	getma.org/?cm=var&var=hg19,5,180030245,C,T&fts=all				D/N		T	neutral	4118/5857		getma.org/?cm=msa&ty=f&p=VGFR3_HUMAN&rb=1293&re=1363&var=D1347N	tolerated_low_confidence(0.17)	D6RFF2_HUMAN			YES	FLT4,missense_variant,p.Asp1347Asn,ENST00000261937,NM_182925.4;FLT4,downstream_gene_variant,,ENST00000393347,NM_002020.4;FLT4,downstream_gene_variant,,ENST00000502649,;FLT4,non_coding_transcript_exon_variant,,ENST00000502603,;FLT4,downstream_gene_variant,,ENST00000507059,;							MODERATE	4039/4092	D1347N	VGFR3_HUMAN			Transcript		benign(0.044)	.	ENSP00000261937		CCDS4457.1			1	
NRDE2	0	LGGM	GRCh37	14	90744800	90744800	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	7	.	.	ENST00000354366.3:c.3375G>T	p.Leu1125Phe	p.L1125F	ENST00000354366	NM_017970.3	1125	ttG/ttT	0	1	1	UPI00001FD9DB	0	NA	ENST00000354366		ENSG00000119720	20186		10	2.79		HGNC	p.L1125F		NRDE2		SNV							ENST00000354366	protein_coding	getma.org/?cm=var&var=hg19,14,90744800,C,A&fts=all		hmmpanther:PTHR13471		L/F		A	medium	3608/5828		getma.org/?cm=msa&ty=f&p=CN102_HUMAN&rb=1054&re=1164&var=L1125F	deleterious(0)	Q658X2_HUMAN,E9PBK4_HUMAN			YES	NRDE2,missense_variant,p.Leu1125Phe,ENST00000354366,NM_017970.3;NRDE2,missense_variant,p.Leu894Phe,ENST00000357904,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,non_coding_transcript_exon_variant,,ENST00000557732,;NRDE2,downstream_gene_variant,,ENST00000555903,;							MODERATE	3375/3495	L1125F	NRDE2_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000346335		CCDS9890.1			1	
NRDE2	0	LGGM	GRCh37	14	90744798	90744798	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	7	.	.	ENST00000354366.3:c.3377A>T	p.Tyr1126Phe	p.Y1126F	ENST00000354366	NM_017970.3	1126	tAc/tTc	0	1	1	UPI00001FD9DB	0	NA	ENST00000354366		ENSG00000119720	20186		10	2.53		HGNC	p.Y1126F		NRDE2		SNV							ENST00000354366	protein_coding	getma.org/?cm=var&var=hg19,14,90744798,T,A&fts=all		hmmpanther:PTHR13471		Y/F		A	medium	3610/5828		getma.org/?cm=msa&ty=f&p=CN102_HUMAN&rb=1054&re=1164&var=Y1126F	deleterious(0.02)	Q658X2_HUMAN,E9PBK4_HUMAN			YES	NRDE2,missense_variant,p.Tyr1126Phe,ENST00000354366,NM_017970.3;NRDE2,missense_variant,p.Tyr895Phe,ENST00000357904,;NRDE2,3_prime_UTR_variant,,ENST00000553409,;NRDE2,3_prime_UTR_variant,,ENST00000556189,;NRDE2,non_coding_transcript_exon_variant,,ENST00000557732,;NRDE2,downstream_gene_variant,,ENST00000555903,;							MODERATE	3377/3495	Y1126F	NRDE2_HUMAN			Transcript		benign(0.242)	.	ENSP00000346335		CCDS9890.1			1	
CYB5R2	0	LGGM	GRCh37	11	7693720	7693720	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	11	7	.	.	ENST00000533558.1:c.113G>T	p.Gly38Val	p.G38V	ENST00000533558		38	gGa/gTa	0	1		UPI000013E5AB	0	getma.org/pdb.php?prot=NB5R2_HUMAN&from=19&to=126&var=G38V	ENST00000299498		ENSG00000166394	24376		18	3.185		HGNC	p.G98V		CYB5R2		SNV							ENST00000524608	protein_coding	getma.org/?cm=var&var=hg19,11,7693720,C,A&fts=all		Superfamily_domains:SSF63380,Pfam_domain:PF00970,Gene3D:2.40.30.10,hmmpanther:PTHR19370,hmmpanther:PTHR19370:SF80,PROSITE_profiles:PS51384		G/V		A	medium	262/1254		getma.org/?cm=msa&ty=f&p=NB5R2_HUMAN&rb=19&re=126&var=G38V	deleterious(0)	E9PRM4_HUMAN,E9PMI2_HUMAN,E9PIV9_HUMAN				CYB5R2,missense_variant,p.Gly38Val,ENST00000533558,;CYB5R2,missense_variant,p.Gly38Val,ENST00000524790,;CYB5R2,missense_variant,p.Gly38Val,ENST00000299498,NM_016229.3;CYB5R2,missense_variant,p.Gly38Val,ENST00000531096,;CYB5R2,missense_variant,p.Gly38Val,ENST00000299497,;CYB5R2,missense_variant,p.Gly98Val,ENST00000524608,;CYB5R2,missense_variant,p.Gly38Val,ENST00000527542,;CYB5R2,missense_variant,p.Gly38Val,ENST00000436351,;CYB5R2,upstream_gene_variant,,ENST00000528585,;CYB5R2,upstream_gene_variant,,ENST00000534698,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000526084,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000534443,;CYB5R2,non_coding_transcript_exon_variant,,ENST00000532920,;CYB5R2,downstream_gene_variant,,ENST00000525307,;							MODERATE	113/831	G38V	NB5R2_HUMAN			Transcript		probably_damaging(0.965)	.	ENSP00000299498		CCDS7780.1			1	
PPFIBP1	0	LGGM	GRCh37	12	27817380	27817380	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	12	8	.	.	ENST00000318304.8:c.1042+10G>T		*348*	ENST00000318304	NM_177444.2			0	1	1	UPI00004565E6	0		ENST00000318304		ENSG00000110841	9249		20			HGNC	-		PPFIBP1		SNV							ENST00000540114	protein_coding							T		-/6001				F5H6Q7_HUMAN			YES	PPFIBP1,splice_donor_variant,,ENST00000228425,NM_003622.3;PPFIBP1,splice_donor_variant,,ENST00000540114,;PPFIBP1,splice_donor_variant,,ENST00000537261,;PPFIBP1,intron_variant,,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,intron_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,intron_variant,,ENST00000542629,;							MODIFIER	-/3036		LIPB1_HUMAN			Transcript			.	ENSP00000314724		CCDS55812.1			1	
SOX9	0	LGGM	GRCh37	17	70119689	70119689	+	missense_variant	Missense_Mutation	SNP	T	T	G	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	65	8	.	.	ENST00000245479.2:c.691T>G	p.Ser231Ala	p.S231A	ENST00000245479	NM_000346.3	231	Tcc/Gcc	0	1	1	UPI00000009D8	0	NA	ENST00000245479		ENSG00000125398	11204		73	2.995		HGNC	p.S231A		SOX9		SNV			1				ENST00000245479	protein_coding	getma.org/?cm=var&var=hg19,17,70119689,T,G&fts=all		hmmpanther:PTHR10270,hmmpanther:PTHR10270:SF212		S/A		G	medium	1063/3935		getma.org/?cm=msa&ty=f&p=SOX9_HUMAN&rb=174&re=373&var=S231A	deleterious(0.02)				YES	SOX9,missense_variant,p.Ser231Ala,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,;							MODERATE	691/1530	S231A	SOX9_HUMAN			Transcript		probably_damaging(0.97)	.	ENSP00000245479		CCDS11689.1			1	
PPFIBP1	0	LGGM	GRCh37	12	27817372	27817372	+	splice_donor_variant	Splice_Site	SNP	T	T	G	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	13	8	.	.	ENST00000318304.8:c.1042+2T>G		p.X348_splice	ENST00000318304	NM_177444.2			0	1	1	UPI00004565E6	0		ENST00000318304		ENSG00000110841	9249		21			HGNC	p.G176G		PPFIBP1		SNV							ENST00000540114	protein_coding							G		-/6001				F5H6Q7_HUMAN			YES	PPFIBP1,splice_donor_variant,,ENST00000318304,NM_177444.2,NM_001198916.1;PPFIBP1,splice_donor_variant,,ENST00000537927,NM_001198915.1;PPFIBP1,splice_donor_variant,,ENST00000542629,;PPFIBP1,synonymous_variant,p.=,ENST00000228425,NM_003622.3;PPFIBP1,synonymous_variant,p.=,ENST00000540114,;PPFIBP1,synonymous_variant,p.=,ENST00000537261,;							HIGH	1042/3036		LIPB1_HUMAN			Transcript			.	ENSP00000314724		CCDS55812.1			1	
SLCO1C1	0	LGGM	GRCh37	12	20870141	20870141	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	24	9	.	.	ENST00000381552.1:c.752T>C	p.Val251Ala	p.V251A	ENST00000381552		251	gTt/gCt	0	1		UPI00000557C4	0	NA	ENST00000266509		ENSG00000139155	13819		33	3.06		HGNC	p.V251A	COSM290283	SLCO1C1		SNV						1	ENST00000266509	protein_coding	getma.org/?cm=var&var=hg19,12,20870141,T,C&fts=all		PROSITE_profiles:PS50850,hmmpanther:PTHR11388:SF18,hmmpanther:PTHR11388,Pfam_domain:PF03137,TIGRFAM_domain:TIGR00805,Gene3D:1.20.1250.20,Superfamily_domains:SSF103473		V/A		C	medium	1120/3365		getma.org/?cm=msa&ty=f&p=SO1C1_HUMAN&rb=42&re=639&var=V251A	deleterious(0)					SLCO1C1,missense_variant,p.Val251Ala,ENST00000381552,;SLCO1C1,missense_variant,p.Val251Ala,ENST00000545604,NM_001145946.1;SLCO1C1,missense_variant,p.Val251Ala,ENST00000266509,NM_017435.4;SLCO1C1,missense_variant,p.Val133Ala,ENST00000545102,NM_001145944.1;SLCO1C1,missense_variant,p.Val202Ala,ENST00000540354,NM_001145945.1;SLCO1C1,3_prime_UTR_variant,,ENST00000539415,;					1		MODERATE	752/2139	V251A	SO1C1_HUMAN			Transcript		probably_damaging(0.999)	.	ENSP00000266509		CCDS8683.1			1	
LRP1B	0	LGGM	GRCh37	2	141055385	141055385	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	182	9	.	.	ENST00000389484.3:c.12959G>A	p.Cys4320Tyr	p.C4320Y	ENST00000389484	NM_018557.2	4320	tGt/tAt	0	1	1	UPI00001B045B	0	NA	ENST00000389484		ENSG00000168702	6693		191	4.075		HGNC	p.C4320Y		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141055385,C,T&fts=all		Gene3D:2.10.25.10,PROSITE_patterns:PS00022,PROSITE_profiles:PS50026,SMART_domains:SM00181,Superfamily_domains:SSF57196		C/Y		T	high	13931/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=4285&re=4321&var=C4320Y		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			YES	LRP1B,missense_variant,p.Cys4320Tyr,ENST00000389484,NM_018557.2;LRP1B,missense_variant,p.Cys552Tyr,ENST00000437977,;LRP1B,missense_variant,p.Cys52Tyr,ENST00000442974,;							MODERATE	12959/13800	C4320Y	LRP1B_HUMAN			Transcript		benign(0.384)	.	ENSP00000374135		CCDS2182.1			1	
FAN1	0	LGGM	GRCh37	15	31217377	31217377	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	18	10	.	.	ENST00000362065.4:c.2220G>A	p.Thr740=	p.T740=	ENST00000362065	NM_014967.4	740	acG/acA	0	1	1	UPI000006D713	0		ENST00000362065		ENSG00000198690	29170		28			HGNC	p.T740T		FAN1		SNV			1				ENST00000362065	protein_coding			hmmpanther:PTHR15749:SF4,hmmpanther:PTHR15749		T		A		2511/4891							YES	FAN1,synonymous_variant,p.=,ENST00000362065,NM_014967.4;RP11-540B6.6,upstream_gene_variant,,ENST00000602886,;FAN1,non_coding_transcript_exon_variant,,ENST00000568145,;FAN1,3_prime_UTR_variant,,ENST00000565280,;FAN1,upstream_gene_variant,,ENST00000562881,;							LOW	2220/3054		FAN1_HUMAN			Transcript			.	ENSP00000354497		CCDS32186.1			1	
PDZRN4	0	LGGM	GRCh37	12	41967652	41967652	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	24	10	.	.	ENST00000402685.2:c.3071C>T	p.Thr1024Met	p.T1024M	ENST00000402685	NM_001164595.1	1024	aCg/aTg	0	1	1	UPI0000D621D0	0	NA	ENST00000402685		ENSG00000165966	30552		34	2.015		HGNC	p.T766M	rs754588707	PDZRN4		SNV							ENST00000539469	protein_coding	getma.org/?cm=var&var=hg19,12,41967652,C,T&fts=all		hmmpanther:PTHR15545:SF6,hmmpanther:PTHR15545		T/M		T	medium	3079/3347	1.54E-05	getma.org/?cm=msa&ty=f&p=PZRN4_HUMAN&rb=885&re=1036&var=T1024M	deleterious(0.01)	B3KT02_HUMAN			YES	PDZRN4,missense_variant,p.Thr764Met,ENST00000298919,;PDZRN4,missense_variant,p.Thr1024Met,ENST00000402685,NM_001164595.1;PDZRN4,missense_variant,p.Thr766Met,ENST00000539469,NM_013377.3;PDZRN4,non_coding_transcript_exon_variant,,ENST00000548316,;							MODERATE	3071/3111	T1024M	PZRN4_HUMAN			Transcript		benign(0.02)	.	ENSP00000384197	8.24E-06	CCDS53777.1			1	
PSMG3	0	LGGM	GRCh37	7	1608885	1608885	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	10	.	.	ENST00000288607.2:c.91C>A	p.His31Asn	p.H31N	ENST00000288607	NM_032302.3	31	Cac/Aac	0	1		UPI0000070DA3	0	getma.org/pdb.php?prot=PSMG3_HUMAN&from=1&to=33&var=H31N	ENST00000252329		ENSG00000157778	22420		24	1.61		HGNC	p.H31N		PSMG3		SNV							ENST00000252329	protein_coding	getma.org/?cm=var&var=hg19,7,1608885,G,T&fts=all		hmmpanther:PTHR31051,hmmpanther:PTHR31051:SF1		H/N		T	low	644/1007		getma.org/?cm=msa&ty=f&p=PSMG3_HUMAN&rb=1&re=33&var=H31N	deleterious(0.04)					PSMG3,missense_variant,p.His31Asn,ENST00000288607,NM_032302.3;PSMG3,missense_variant,p.His31Asn,ENST00000252329,;PSMG3,missense_variant,p.His31Asn,ENST00000404674,NM_001134340.1;PSMG3-AS1,upstream_gene_variant,,ENST00000437621,;PSMG3-AS1,upstream_gene_variant,,ENST00000457484,;PSMG3-AS1,upstream_gene_variant,,ENST00000437964,;PSMG3-AS1,upstream_gene_variant,,ENST00000532358,;PSMG3-AS1,upstream_gene_variant,,ENST00000533935,;PSMG3-AS1,upstream_gene_variant,,ENST00000524978,;							MODERATE	91/369	H31N	PSMG3_HUMAN			Transcript		benign(0.326)	.	ENSP00000252329		CCDS5327.1			1	
EMR1	0	LGGM	GRCh37	19	6919745	6919745	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	23	11	.	.	ENST00000312053.4:c.1607T>A	p.Leu536Gln	p.L536Q	ENST00000312053	NM_001974.4	536	cTg/cAg	0	1	1	UPI0000203241	0	NA	ENST00000312053		ENSG00000174837	3336		34	1.04		HGNC	p.L536Q		EMR1		SNV							ENST00000250572	protein_coding	getma.org/?cm=var&var=hg19,19,6919745,T,A&fts=all		Prints_domain:PR01128,hmmpanther:PTHR12011,hmmpanther:PTHR12011:SF207		L/Q		A	low	1644/3128		getma.org/?cm=msa&ty=f&p=EMR1_HUMAN&rb=516&re=545&var=L536Q	deleterious(0)				YES	EMR1,missense_variant,p.Leu536Gln,ENST00000312053,NM_001974.4;EMR1,missense_variant,p.Leu484Gln,ENST00000381404,NM_001256252.1;EMR1,missense_variant,p.Leu536Gln,ENST00000250572,NM_001256253.1;EMR1,missense_variant,p.Leu395Gln,ENST00000381407,NM_001256254.1;EMR1,missense_variant,p.Leu359Gln,ENST00000450315,NM_001256255.1;							MODERATE	1607/2661	L536Q	EMR1_HUMAN			Transcript		probably_damaging(0.966)	.	ENSP00000311545		CCDS12175.1			1	
GNAS	0	LGGM	GRCh37	20	57428962	57428962	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	11	11	.	.	ENST00000371100.4:c.642A>G	p.Gly214=	p.G214=	ENST00000371100	NM_001077490.1	214	ggA/ggG	0	1	1	UPI0000E444AE	0		ENST00000371100		ENSG00000087460	4392		22			HGNC	p.E151G		GNAS		SNV			1				ENST00000306120	protein_coding					G		G		1194/4029				S4R3W4_HUMAN,S4R3V9_HUMAN,S4R3F1_HUMAN,S4R3E3_HUMAN,S4R379_HUMAN,B0AZR9_HUMAN			YES	GNAS,missense_variant,p.Glu151Gly,ENST00000306120,;GNAS,synonymous_variant,p.=,ENST00000371100,NM_001077490.1,NM_080425.2;GNAS,synonymous_variant,p.=,ENST00000371099,;GNAS,synonymous_variant,p.=,ENST00000371102,;GNAS,intron_variant,,ENST00000313949,;GNAS,intron_variant,,ENST00000371075,NM_016592.2;GNAS,intron_variant,,ENST00000371098,;GNAS,intron_variant,,ENST00000419558,;GNAS,intron_variant,,ENST00000453292,;GNAS,upstream_gene_variant,,ENST00000423897,;GNAS,upstream_gene_variant,,ENST00000450130,;GNAS,upstream_gene_variant,,ENST00000349036,;GNAS-AS1,upstream_gene_variant,,ENST00000424094,;GNAS-AS1,upstream_gene_variant,,ENST00000598163,;GNAS,non_coding_transcript_exon_variant,,ENST00000464624,;GNAS,intron_variant,,ENST00000491348,;GNAS,intron_variant,,ENST00000472183,;GNAS,intron_variant,,ENST00000493744,;GNAS,intron_variant,,ENST00000482112,;GNAS,intron_variant,,ENST00000490374,;GNAS,intron_variant,,ENST00000467227,;GNAS,intron_variant,,ENST00000462499,;GNAS,upstream_gene_variant,,ENST00000481768,;							LOW	642/3114		GNAS1_HUMAN			Transcript			.	ENSP00000360141		CCDS46622.1			1	
PRODH	0	LGGM	GRCh37	22	18905871	18905871	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	19	11	.	.	ENST00000357068.6:c.1385C>A	p.Pro462His	p.P462H	ENST00000357068	NM_016335.4	462	cCc/cAc	0	1	1	UPI00001AE5E1	0	getma.org/pdb.php?prot=PROD_HUMAN&from=227&to=582&var=P462H	ENST00000357068		ENSG00000100033	9453		30	3.855		HGNC	p.P462H		PRODH		SNV			1				ENST00000357068	protein_coding	getma.org/?cm=var&var=hg19,22,18905871,G,T&fts=all		Gene3D:3.20.20.220,Pfam_domain:PF01619,hmmpanther:PTHR13914,hmmpanther:PTHR13914:SF4,Superfamily_domains:SSF51730		P/H		T	high	1651/2462		getma.org/?cm=msa&ty=f&p=PROD_HUMAN&rb=227&re=582&var=P462H	deleterious(0)	E7EQL6_HUMAN,C9JIW4_HUMAN			YES	PRODH,missense_variant,p.Pro462His,ENST00000357068,NM_016335.4;PRODH,missense_variant,p.Pro354His,ENST00000420436,;PRODH,missense_variant,p.Pro354His,ENST00000334029,NM_001195226.1;PRODH,downstream_gene_variant,,ENST00000450579,;PRODH,downstream_gene_variant,,ENST00000438924,;PRODH,downstream_gene_variant,,ENST00000457083,;PRODH,non_coding_transcript_exon_variant,,ENST00000609229,;PRODH,non_coding_transcript_exon_variant,,ENST00000482858,;PRODH,non_coding_transcript_exon_variant,,ENST00000491604,;PRODH,non_coding_transcript_exon_variant,,ENST00000313755,;PRODH,non_coding_transcript_exon_variant,,ENST00000429300,;DGCR6,downstream_gene_variant,,ENST00000483718,;PRODH,downstream_gene_variant,,ENST00000399694,;PRODH,downstream_gene_variant,,ENST00000446371,;							MODERATE	1385/1803	P462H	PROD_HUMAN			Transcript		probably_damaging(0.994)	.	ENSP00000349577		CCDS13754.1			1	
SIM1	0	LGGM	GRCh37	6	100897314	100897314	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	0	11	.	.	ENST00000369208.3:c.468C>T	p.Ile156=	p.I156=	ENST00000369208		156	atC/atT	0	1		UPI000013D355	0		ENST00000262901		ENSG00000112246	10882		11			HGNC	p.I156I		SIM1		SNV			1				ENST00000262901	protein_coding			hmmpanther:PTHR23043:SF22,hmmpanther:PTHR23043,Gene3D:3.30.450.20,Superfamily_domains:SSF55785		I		A		677/3999								SIM1,synonymous_variant,p.=,ENST00000369208,;SIM1,synonymous_variant,p.=,ENST00000262901,NM_005068.2;							LOW	468/2301		SIM1_HUMAN			Transcript			.	ENSP00000262901		CCDS5045.1			1	
MYCBP2	0	LGGM	GRCh37	13	77780914	77780914	+	missense_variant	Missense_Mutation	SNP	C	C	G	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	4	12	.	.	ENST00000544440.2:c.3349G>C	p.Ala1117Pro	p.A1117P	ENST00000544440		1117	Gct/Cct	0	1		UPI0000212757	0	NA	ENST00000357337		ENSG00000005810	23386		16	1.445		HGNC	p.A1155P		MYCBP2		SNV							ENST00000407578	protein_coding	getma.org/?cm=var&var=hg19,13,77780914,C,G&fts=all		hmmpanther:PTHR12846,hmmpanther:PTHR12846:SF14		A/P		G	low	3442/14736		getma.org/?cm=msa&ty=f&p=MYCB2_HUMAN&rb=969&re=1168&var=A1117P						MYCBP2,missense_variant,p.Ala1155Pro,ENST00000407578,NM_015057.4;MYCBP2,missense_variant,p.Ala1117Pro,ENST00000357337,;MYCBP2,missense_variant,p.Ala1117Pro,ENST00000544440,;MYCBP2,5_prime_UTR_variant,,ENST00000360084,;							MODERATE	3349/13923	A1117P	MYCB2_HUMAN			Transcript		possibly_damaging(0.863)	.	ENSP00000349892					1	
ADRA2B	0	LGGM	GRCh37	2	96780767	96780767	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	23	12	.	.	ENST00000409345.3:c.1122T>C	p.Ile374=	p.I374=	ENST00000409345	NM_000682.5	374	atT/atC	0	1	1	UPI0000047181	0		ENST00000409345		ENSG00000222040	282		35			HGNC	p.I374I		ADRA2B		SNV							ENST00000409345	protein_coding			Gene3D:1.20.1070.10,Pfam_domain:PF00001,Prints_domain:PR00237,PROSITE_profiles:PS50262,hmmpanther:PTHR24248,hmmpanther:PTHR24248:SF26,Superfamily_domains:SSF81321,Transmembrane_helices:TMhelix		I		G		1218/3278				A2RUS0_HUMAN			YES	ADRA2B,synonymous_variant,p.=,ENST00000409345,NM_000682.5;							LOW	1122/1344		ADA2B_HUMAN			Transcript			.	ENSP00000387281		CCDS56129.1			1	
PRAP1	0	LGGM	GRCh37	10	135165907	135165907	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	22	13	.	.	ENST00000433452.2:c.419C>T	p.Pro140Leu	p.P140L	ENST00000433452		140	cCg/cTg	0	1	1	UPI00001F98FB	0	NA	ENST00000433452		ENSG00000165828	23304	8.66E-05	35	1.7		HGNC	p.P131L	rs759778762	PRAP1		SNV							ENST00000458230	protein_coding	getma.org/?cm=var&var=hg19,10,135165907,C,T&fts=all		Pfam_domain:PF15314		P/L		T	low	691/971		getma.org/?cm=msa&ty=f&p=PRAP1_HUMAN&rb=88&re=149&var=P140L	deleterious(0)				YES	ZNF511,missense_variant,p.Pro299Leu,ENST00000368554,;PRAP1,missense_variant,p.Pro140Leu,ENST00000433452,;PRAP1,missense_variant,p.Pro141Leu,ENST00000423766,NM_145202.4;PRAP1,missense_variant,p.Pro131Leu,ENST00000458230,NM_001145201.1;FUOM,downstream_gene_variant,,ENST00000278025,NM_198472.2;FUOM,downstream_gene_variant,,ENST00000368551,;FUOM,downstream_gene_variant,,ENST00000447176,;FUOM,downstream_gene_variant,,ENST00000368552,NM_001098483.1;RP11-122K13.7,upstream_gene_variant,,ENST00000452591,;PRAP1,non_coding_transcript_exon_variant,,ENST00000463201,;FUOM,downstream_gene_variant,,ENST00000465384,;FUOM,downstream_gene_variant,,ENST00000478895,;							MODERATE	419/456	P140L	PRAP1_HUMAN			Transcript		probably_damaging(0.998)	.	ENSP00000416126	8.24E-06	CCDS7679.1			1	
LRP1B	0	LGGM	GRCh37	2	141819798	141819798	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	21	13	.	.	ENST00000389484.3:c.1058G>T	p.Arg353Ile	p.R353I	ENST00000389484	NM_018557.2	353	aGa/aTa	0	1	1	UPI00001B045B	0	getma.org/pdb.php?prot=LRP1B_HUMAN&from=336&to=381&var=R353I	ENST00000389484		ENSG00000168702	6693		34	3.285		HGNC	p.R353I		LRP1B		SNV							ENST00000389484	protein_coding	getma.org/?cm=var&var=hg19,2,141819798,C,A&fts=all		Gene3D:2.120.10.30,PROSITE_profiles:PS51120,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF105,SMART_domains:SM00135,Superfamily_domains:SSF63825		R/I		A	medium	2030/16535		getma.org/?cm=msa&ty=f&p=LRP1B_HUMAN&rb=336&re=381&var=R353I		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			YES	LRP1B,missense_variant,p.Arg353Ile,ENST00000389484,NM_018557.2;LRP1B,intron_variant,,ENST00000434794,;							MODERATE	1058/13800	R353I	LRP1B_HUMAN			Transcript		benign(0.308)	.	ENSP00000374135		CCDS2182.1			1	
DLG2	0	LGGM	GRCh37	11	83173069	83173069	+	stop_gained	Nonsense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	50	13	.	.	ENST00000376104.2:c.2797C>T	p.Gln933Ter	p.Q933*	ENST00000376104	NM_001142699.1	933	Caa/Taa	0	1		UPI000047CAFF	0	NA	ENST00000398309		ENSG00000150672	2901		63	0		HGNC	p.Q795X	rs538084173	DLG2		SNV							ENST00000531015	protein_coding	getma.org/?cm=var&var=hg19,11,83173069,G,A&fts=all		Coiled-coils_(Ncoils):Coil,Superfamily_domains:SSF52540,PIRSF_domain:PIRSF001741,SMART_domains:SM00072,Gene3D:3.40.50.300,Pfam_domain:PF00625,hmmpanther:PTHR23119,hmmpanther:PTHR23119:SF6,PROSITE_profiles:PS50052		Q/*		A	NA	2953/7890		NA		F8W750_HUMAN,E9PQT9_HUMAN				DLG2,stop_gained,p.Gln828Ter,ENST00000398309,NM_001364.3;DLG2,stop_gained,p.Gln292Ter,ENST00000426717,NM_001142702.1;DLG2,stop_gained,p.Gln933Ter,ENST00000376104,NM_001142699.1;DLG2,stop_gained,p.Gln933Ter,ENST00000543673,;DLG2,stop_gained,p.Gln867Ter,ENST00000280241,NM_001206769.1;DLG2,stop_gained,p.Gln707Ter,ENST00000418306,NM_001142700.1;DLG2,stop_gained,p.Gln795Ter,ENST00000531015,;DLG2,stop_gained,p.Gln810Ter,ENST00000532653,;DLG2,stop_gained,p.Gln824Ter,ENST00000524982,;DLG2,stop_gained,p.Gln578Ter,ENST00000537455,;DLG2,stop_gained,p.Gln749Ter,ENST00000330014,;DLG2,stop_gained,p.Gln292Ter,ENST00000376106,;DLG2,stop_gained,p.Gln306Ter,ENST00000404783,;DLG2,downstream_gene_variant,,ENST00000457267,;DLG2,non_coding_transcript_exon_variant,,ENST00000529159,;AP003026.1,upstream_gene_variant,,ENST00000420284,;							HIGH	2482/2613	Q828*	DLG2_HUMAN			Transcript			.	ENSP00000381355		CCDS41696.1			1	
GALNTL6	0	LGGM	GRCh37	4	172735824	172735824	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	13	.	.	ENST00000506823.1:c.93C>T	p.Tyr31=	p.Y31=	ENST00000506823	NM_001034845.2	31	taC/taT	0	1	1	UPI000058EB5C	0		ENST00000506823		ENSG00000174473	33844		16			HGNC	p.Y31Y		GALNTL6		SNV							ENST00000511251	protein_coding			Transmembrane_helices:TMhelix,hmmpanther:PTHR11675,hmmpanther:PTHR11675:SF34		Y		T		750/3922				E5D8G0_HUMAN			YES	GALNTL6,synonymous_variant,p.=,ENST00000506823,NM_001034845.2;GALNTL6,synonymous_variant,p.=,ENST00000511251,;GALNTL6,non_coding_transcript_exon_variant,,ENST00000513061,;GALNTL6,non_coding_transcript_exon_variant,,ENST00000504379,;							LOW	93/1806		GLTL6_HUMAN			Transcript			.	ENSP00000423313		CCDS34104.1			1	
MED13L	0	LGGM	GRCh37	12	116428910	116428910	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	17	13	.	.	ENST00000281928.3:c.3849G>A	p.Arg1283=	p.R1283=	ENST00000281928	NM_015335.4	1283	cgG/cgA	0	1	1	UPI0000241C1E	0		ENST00000281928		ENSG00000123066	22962		30			HGNC	p.R1283R		MED13L		SNV			1				ENST00000281928	protein_coding			hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21		R		T		4056/9530				Q9H6Z7_HUMAN			YES	MED13L,synonymous_variant,p.=,ENST00000281928,NM_015335.4;							LOW	3849/6633		MD13L_HUMAN			Transcript			.	ENSP00000281928		CCDS9177.1			1	
KCNQ2	0	LGGM	GRCh37	20	62065130	62065130	+	intron_variant	Intron	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	25	14	.	.	ENST00000359125.2:c.1118+32C>A		*373*	ENST00000359125	NM_172107.2			0	1	1	UPI00001279ED	0	NA	ENST00000359125		ENSG00000075043	6296		39	1.95		HGNC	p.L384M		KCNQ2		SNV			1				ENST00000344425	protein_coding	getma.org/?cm=var&var=hg19,20,62065130,G,T&fts=all						T	medium	-/3249		getma.org/?cm=msa&ty=f&p=Q53Y30_HUMAN&rb=313&re=393&var=L384M					YES	KCNQ2,missense_variant,p.Leu384Met,ENST00000344425,NM_172109.1;KCNQ2,intron_variant,,ENST00000354587,;KCNQ2,intron_variant,,ENST00000359689,;KCNQ2,intron_variant,,ENST00000359125,NM_172107.2;KCNQ2,intron_variant,,ENST00000357249,NM_172106.1,NM_172108.3;KCNQ2,intron_variant,,ENST00000370224,;KCNQ2,intron_variant,,ENST00000360480,NM_004518.4;KCNQ2,intron_variant,,ENST00000344462,;KCNQ2,non_coding_transcript_exon_variant,,ENST00000482957,;KCNQ2,intron_variant,,ENST00000370221,;							MODIFIER	-/2619	L384M	KCNQ2_HUMAN			Transcript			.	ENSP00000352035		CCDS13520.1			1	
TMEM213	0	LGGM	GRCh37	7	138487650	138487650	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	15	14	.	.	ENST00000442682.2:c.160G>T	p.Asp54Tyr	p.D54Y	ENST00000442682	NM_001085429.1	54	Gac/Tac	0	1	1	UPI00001B64B7	0	NA	ENST00000442682		ENSG00000214128	27220		29	1.1		HGNC	p.D104Y		TMEM213		SNV							ENST00000422794	protein_coding	getma.org/?cm=var&var=hg19,7,138487650,G,T&fts=all		Pfam_domain:PF15192		D/Y		T	low	313/4167		getma.org/?cm=msa&ty=f&p=TM213_HUMAN&rb=10&re=105&var=D54Y	deleterious(0)				YES	TMEM213,missense_variant,p.Asp54Tyr,ENST00000442682,NM_001085429.1;TMEM213,missense_variant,p.Asp104Tyr,ENST00000422794,;TMEM213,missense_variant,p.Asp53Tyr,ENST00000397602,;TMEM213,missense_variant,p.Asp30Tyr,ENST00000458494,;TMEM213,intron_variant,,ENST00000413208,;ATP6V0A4,upstream_gene_variant,,ENST00000310018,NM_020632.2,NM_130840.2;ATP6V0A4,upstream_gene_variant,,ENST00000353492,;ATP6V0A4,upstream_gene_variant,,ENST00000479909,;TMEM213,downstream_gene_variant,,ENST00000472775,;							MODERATE	160/324	D54Y	TM213_HUMAN			Transcript		possibly_damaging(0.452)	.	ENSP00000390407		CCDS47722.1			1	
PARD3	0	LGGM	GRCh37	10	34558614	34558614	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	21	15	.	.	ENST00000374789.3:c.3399G>T	p.Pro1133=	p.P1133=	ENST00000374789	NM_019619.3	1133	ccG/ccT	0	1	1	UPI0000073A9F	0		ENST00000374789		ENSG00000148498	16051		36			HGNC	p.P1073P		PARD3		SNV							ENST00000374790	protein_coding			hmmpanther:PTHR16484,hmmpanther:PTHR16484:SF10		P		A		3725/6005							YES	PARD3,synonymous_variant,p.=,ENST00000374789,NM_019619.3;PARD3,synonymous_variant,p.=,ENST00000374788,NM_001184785.1;PARD3,synonymous_variant,p.=,ENST00000545693,NM_001184786.1;PARD3,synonymous_variant,p.=,ENST00000346874,NM_001184787.1;PARD3,synonymous_variant,p.=,ENST00000350537,NM_001184788.1,NM_001184789.1;PARD3,synonymous_variant,p.=,ENST00000374790,;PARD3,synonymous_variant,p.=,ENST00000545260,NM_001184790.1;PARD3,synonymous_variant,p.=,ENST00000374794,NM_001184791.1;PARD3,downstream_gene_variant,,ENST00000466092,;							LOW	3399/4071		PARD3_HUMAN			Transcript			.	ENSP00000363921		CCDS7178.1			1	
SIGLEC6	0	LGGM	GRCh37	19	52033009	52033009	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	12	15	.	.	ENST00000425629.3:c.981C>T	p.Ser327=	p.S327=	ENST00000425629	NM_001245.5	327	tcC/tcT	0	1	1	UPI0000223FFD	0		ENST00000425629		ENSG00000105492	10875		27			HGNC	p.S338S		SIGLEC6		SNV							ENST00000359982	protein_coding			Gene3D:2.60.40.10,Pfam_domain:PF07679,PROSITE_profiles:PS50835,hmmpanther:PTHR12035,hmmpanther:PTHR12035:SF41,SMART_domains:SM00409,Superfamily_domains:SSF48726		S		A		1136/1852							YES	SIGLEC6,synonymous_variant,p.=,ENST00000346477,NM_198845.4;SIGLEC6,synonymous_variant,p.=,ENST00000425629,NM_001245.5;SIGLEC6,synonymous_variant,p.=,ENST00000359982,NM_001177548.1;SIGLEC6,synonymous_variant,p.=,ENST00000343300,NM_001177549.1,NM_198846.4;SIGLEC6,synonymous_variant,p.=,ENST00000436458,NM_001177547.1;SIGLEC6,synonymous_variant,p.=,ENST00000391797,;SIGLEC6,upstream_gene_variant,,ENST00000474054,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000496422,;SIGLEC6,non_coding_transcript_exon_variant,,ENST00000489837,;							LOW	981/1362		SIGL6_HUMAN			Transcript			.	ENSP00000401502		CCDS12834.3			1	
CNNM1	0	LGGM	GRCh37	10	101121986	101121986	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	25	15	.	.	ENST00000356713.4:c.1861G>C	p.Val621Leu	p.V621L	ENST00000356713	NM_020348.2	621	Gtg/Ctg	0	1	1	UPI0000E19A44	0	NA	ENST00000356713		ENSG00000119946	102		40	2.33		HGNC	p.V621L		CNNM1		SNV							ENST00000356713	protein_coding	getma.org/?cm=var&var=hg19,10,101121986,G,C&fts=all		hmmpanther:PTHR12064,hmmpanther:PTHR12064:SF28		V/L		C	medium	2150/5959		getma.org/?cm=msa&ty=f&p=CNNM1_HUMAN&rb=563&re=762&var=V621L	deleterious(0.03)	F2YHU6_HUMAN,B3KPD2_HUMAN			YES	CNNM1,missense_variant,p.Val621Leu,ENST00000356713,NM_020348.2;CNNM1,missense_variant,p.Val550Leu,ENST00000446890,;CNNM1,missense_variant,p.Val550Leu,ENST00000370528,;CNNM1,missense_variant,p.Val256Leu,ENST00000370534,;							MODERATE	1861/2856	V621L	CNNM1_HUMAN			Transcript		benign(0.063)	.	ENSP00000349147		CCDS7478.2			1	
CORIN	0	LGGM	GRCh37	4	47625589	47625589	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	16	.	.	ENST00000273857.4:c.2539G>T	p.Gly847Trp	p.G847W	ENST00000273857	NM_006587.3	847	Ggg/Tgg	0	1	1	UPI0000168657	0	getma.org/pdb.php?prot=CORIN_HUMAN&from=802&to=1030&var=G847W	ENST00000273857		ENSG00000145244	19012		30	2.235		HGNC	p.G708W		CORIN		SNV			1				ENST00000508498	protein_coding	getma.org/?cm=var&var=hg19,4,47625589,C,A&fts=all		PROSITE_profiles:PS50240,hmmpanther:PTHR24270,Gene3D:2.40.10.10,Pfam_domain:PF00089,SMART_domains:SM00020,PIRSF_domain:PIRSF036376,Superfamily_domains:SSF50494		G/W		A	medium	2539/4852		getma.org/?cm=msa&ty=f&p=CORIN_HUMAN&rb=802&re=1030&var=G847W	deleterious(0)	Q8IZR7_HUMAN,E7EQE7_HUMAN			YES	CORIN,missense_variant,p.Gly847Trp,ENST00000273857,NM_006587.3;CORIN,missense_variant,p.Gly708Trp,ENST00000508498,;CORIN,missense_variant,p.Gly780Trp,ENST00000502252,NM_001278585.1;CORIN,missense_variant,p.Gly810Trp,ENST00000505909,;CORIN,downstream_gene_variant,,ENST00000515827,;							MODERATE	2539/3129	G847W	CORIN_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000273857		CCDS3477.1			1	
ATP11B	0	LGGM	GRCh37	3	182603796	182603796	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	17	16	.	.	ENST00000323116.5:c.2713C>A	p.Gln905Lys	p.Q905K	ENST00000323116	NM_014616.2	905	Caa/Aaa	0	1	1	UPI000004124E	0	NA	ENST00000323116		ENSG00000058063	13553		33	2.785		HGNC	p.Q905K		ATP11B		SNV							ENST00000323116	protein_coding	getma.org/?cm=var&var=hg19,3,182603796,C,A&fts=all		hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF57,TIGRFAM_domain:TIGR01652,Superfamily_domains:0049473		Q/K		A	medium	2973/7325		getma.org/?cm=msa&ty=f&p=AT11B_HUMAN&rb=834&re=1033&var=Q905K	deleterious(0.02)	B4E3T1_HUMAN			YES	ATP11B,missense_variant,p.Gln905Lys,ENST00000323116,NM_014616.2;ATP11B,missense_variant,p.Gln706Lys,ENST00000498086,;ATP11B,intron_variant,,ENST00000482070,;ATP11B,splice_region_variant,,ENST00000466758,;ATP11B,splice_region_variant,,ENST00000490303,;							MODERATE	2713/3534	Q905K	AT11B_HUMAN			Transcript		probably_damaging(0.933)	.	ENSP00000321195		CCDS33896.1			1	
RAPGEF1	0	LGGM	GRCh37	9	134467556	134467556	+	missense_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	20	16	.	.	ENST00000372190.3:c.2200T>A	p.Cys734Ser	p.C734S	ENST00000372190	NM_198679.1	734	Tgc/Agc	0	1		UPI000021FB80	0	NA	ENST00000372189		ENSG00000107263	4568		36	1.7		HGNC	p.C662S		RAPGEF1		SNV							ENST00000429421	protein_coding	getma.org/?cm=var&var=hg19,9,134467556,A,T&fts=all		Superfamily_domains:0041591,SMART_domains:SM00229,Gene3D:2ii0A01,Pfam_domain:PF00618,hmmpanther:PTHR23113,hmmpanther:PTHR23113:SF40,PROSITE_profiles:PS50212		C/S		T	low	2270/6085		getma.org/?cm=msa&ty=f&p=RPGF1_HUMAN&rb=691&re=788&var=C716S	tolerated(0.97)					RAPGEF1,missense_variant,p.Cys733Ser,ENST00000372195,;RAPGEF1,missense_variant,p.Cys734Ser,ENST00000372190,NM_198679.1;RAPGEF1,missense_variant,p.Cys716Ser,ENST00000372189,NM_005312.2;RAPGEF1,missense_variant,p.Cys144Ser,ENST00000414781,;							MODERATE	2146/3234	C716S	RPGF1_HUMAN			Transcript		benign(0.114)	.	ENSP00000361263		CCDS48047.1			1	
SYNE2	0	LGGM	GRCh37	14	64625483	64625483	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	16	.	.	ENST00000358025.3:c.15933G>T	p.Glu5311Asp	p.E5311D	ENST00000358025	NM_182914.2	5311	gaG/gaT	0	1		UPI00001B0452	0	NA	ENST00000344113		ENSG00000054654	17084		30	1.905		HGNC	p.E1696D		SYNE2		SNV			1				ENST00000394768	protein_coding	getma.org/?cm=var&var=hg19,14,64625483,G,T&fts=all		Gene3D:1.20.58.60,Coiled-coils_(Ncoils):Coil,hmmpanther:PTHR11915,hmmpanther:PTHR11915:SF264,SMART_domains:SM00150,Superfamily_domains:SSF46966		E/D		T	medium	16145/21777		getma.org/?cm=msa&ty=f&p=SYNE2_HUMAN&rb=5279&re=5478&var=E5311D		Q86YP9_HUMAN,G3V5D3_HUMAN,G3V403_HUMAN				SYNE2,missense_variant,p.Glu1696Asp,ENST00000357395,;SYNE2,missense_variant,p.Glu5311Asp,ENST00000358025,NM_182914.2;SYNE2,missense_variant,p.Glu5311Asp,ENST00000344113,NM_015180.4;SYNE2,missense_variant,p.Glu5228Asp,ENST00000554584,;SYNE2,missense_variant,p.Glu1945Asp,ENST00000555002,;SYNE2,missense_variant,p.Glu1696Asp,ENST00000394768,;ESR2,intron_variant,,ENST00000542956,;ESR2,intron_variant,,ENST00000556275,;SYNE2,missense_variant,p.Glu273Asp,ENST00000555612,;SYNE2,non_coding_transcript_exon_variant,,ENST00000557024,;SYNE2,upstream_gene_variant,,ENST00000553289,;							MODERATE	15933/20658	E5311D	SYNE2_HUMAN			Transcript		possibly_damaging(0.653)	.	ENSP00000341781		CCDS41963.1			1	
HSPG2	0	LGGM	GRCh37	1	22150110	22150110	+	splice_region_variant,synonymous_variant	Splice_Region	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	4	17	.	.	ENST00000374695.3:c.13002C>A	p.Ile4334=	p.I4334=	ENST00000374695	NM_005529.5	4334	atC/atA	0	1	1	UPI0000212778	0		ENST00000374695		ENSG00000142798	5273		21			HGNC	p.I4334I		HSPG2		SNV			1				ENST00000374695	protein_coding			PROSITE_profiles:PS50025,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF252,Pfam_domain:PF00054,Gene3D:2.60.120.200,SMART_domains:SM00282,Superfamily_domains:SSF49899		I		T		13082/14327				B6EU51_HUMAN			YES	HSPG2,splice_region_variant,p.=,ENST00000374695,NM_005529.5;LDLRAD2,3_prime_UTR_variant,,ENST00000344642,NM_001013693.2;LDLRAD2,intron_variant,,ENST00000543870,;HSPG2,splice_region_variant,,ENST00000486901,;HSPG2,splice_region_variant,,ENST00000481644,;LDLRAD2,downstream_gene_variant,,ENST00000484271,;							LOW	13002/13176		PGBM_HUMAN			Transcript			.	ENSP00000363827		CCDS30625.1			1	
MED13L	0	LGGM	GRCh37	12	116421026	116421026	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	18	.	.	ENST00000281928.3:c.4851C>T	p.Ser1617=	p.S1617=	ENST00000281928	NM_015335.4	1617	agC/agT	0	1	1	UPI0000241C1E	0		ENST00000281928		ENSG00000123066	22962		32			HGNC	p.S1617S		MED13L		SNV			1				ENST00000281928	protein_coding			hmmpanther:PTHR12950,hmmpanther:PTHR12950:SF21		S		A		5058/9530				Q9H6Z7_HUMAN			YES	MED13L,synonymous_variant,p.=,ENST00000281928,NM_015335.4;MED13L,synonymous_variant,p.=,ENST00000549786,;MED13L,upstream_gene_variant,,ENST00000552340,;MED13L,upstream_gene_variant,,ENST00000548694,;							LOW	4851/6633		MD13L_HUMAN			Transcript			.	ENSP00000281928		CCDS9177.1			1	
PLCG2	0	LGGM	GRCh37	16	81954834	81954834	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	0	18	.	.	ENST00000359376.3:c.2267G>A	p.Ser756Asn	p.S756N	ENST00000359376	NM_002661.3	756	aGc/aAc	0	1	1	UPI00001411F7	0	NA	ENST00000359376		ENSG00000197943	9066		18	0.205		HGNC	p.S756N		PLCG2		SNV			1				ENST00000359376	protein_coding	getma.org/?cm=var&var=hg19,16,81954834,G,A&fts=all		PIRSF_domain:PIRSF000952,hmmpanther:PTHR10336,hmmpanther:PTHR10336:SF25		S/N		A	neutral	2481/4308		getma.org/?cm=msa&ty=f&p=PLCG2_HUMAN&rb=721&re=774&var=S756N	tolerated(0.38)	H3BQV5_HUMAN			YES	PLCG2,missense_variant,p.Ser756Asn,ENST00000359376,NM_002661.3;PLCG2,non_coding_transcript_exon_variant,,ENST00000567980,;PLCG2,upstream_gene_variant,,ENST00000570196,;							MODERATE	2267/3798	S756N	PLCG2_HUMAN			Transcript		benign(0.001)	.	ENSP00000352336		CCDS42204.1			1	
COL24A1	0	LGGM	GRCh37	1	86334498	86334498	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	6	18	.	.	ENST00000370571.2:c.3159A>G	p.Gly1053=	p.G1053=	ENST00000370571	NM_152890.5	1053	ggA/ggG	0	1	1	UPI000013E81F	0		ENST00000370571		ENSG00000171502	20821		24			HGNC	p.G1053G		COL24A1		SNV							ENST00000370571	protein_coding			hmmpanther:PTHR24023,hmmpanther:PTHR24023:SF360		G		C		3526/6825				E9PNK8_HUMAN			YES	COL24A1,synonymous_variant,p.=,ENST00000370571,NM_152890.5;COL24A1,synonymous_variant,p.=,ENST00000436319,;COL24A1,3_prime_UTR_variant,,ENST00000426639,;							LOW	3159/5145		COOA1_HUMAN			Transcript			.	ENSP00000359603		CCDS41353.1			1	
DEPTOR	0	LGGM	GRCh37	8	121013906	121013906	+	synonymous_variant	Silent	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	20	18	.	.	ENST00000286234.5:c.747G>A	p.Arg249=	p.R249=	ENST00000286234	NM_022783.2	249	agG/agA	0	1	1	UPI000013DE38	0		ENST00000286234		ENSG00000155792	22953		38			HGNC	p.R249R		DEPTOR		SNV							ENST00000286234	protein_coding			Gene3D:1.10.10.10,hmmpanther:PTHR22829,hmmpanther:PTHR22829:SF18,Superfamily_domains:SSF46785		R		A		877/2569							YES	DEPTOR,synonymous_variant,p.=,ENST00000286234,NM_022783.2;DEPTOR,synonymous_variant,p.=,ENST00000523492,NM_001283012.1;DEPTOR,non_coding_transcript_exon_variant,,ENST00000518057,;							LOW	747/1230		DPTOR_HUMAN			Transcript			.	ENSP00000286234		CCDS6331.1			1	
TECPR2	0	LGGM	GRCh37	14	102873708	102873708	+	synonymous_variant	Silent	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	21	18	.	.	ENST00000359520.7:c.253C>T	p.Leu85=	p.L85=	ENST00000359520	NM_014844.3	85	Ctg/Ttg	0	1	1	UPI00001FDC38	0		ENST00000359520		ENSG00000196663	19957		39			HGNC	p.L85L		TECPR2		SNV			1				ENST00000359520	protein_coding			Superfamily_domains:SSF50978,SMART_domains:SM00320,Gene3D:2.130.10.10,hmmpanther:PTHR23287:SF16,hmmpanther:PTHR23287		L		T		479/8686							YES	TECPR2,synonymous_variant,p.=,ENST00000359520,NM_014844.3;TECPR2,synonymous_variant,p.=,ENST00000558678,NM_001172631.1;TECPR2,non_coding_transcript_exon_variant,,ENST00000561228,;							LOW	253/4236		TCPR2_HUMAN			Transcript			.	ENSP00000352510		CCDS32162.1			1	
RB1	0	LGGM	GRCh37	13	49039483	49039484	+	frameshift_variant	Frame_Shift_Ins	INS	-	-	A	novel	by Submitter	H112971	H112971N.bam	-	-					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	18	.	.	ENST00000267163.4:c.2473dup	p.Met825AsnfsTer13	p.M825Nfs*13	ENST00000267163	NM_000321.2	823	aca/acAa	0	1	1	UPI0000001C79	0		ENST00000267163		ENSG00000139687	9884		21			HGNC	p.T823fs		RB1		insertion			1				ENST00000267163	protein_coding			hmmpanther:PTHR13742,Pfam_domain:PF08934		T/TX		A		2606-2607/4840				Q7KZ61_HUMAN,Q7KZ60_HUMAN,Q6LE82_HUMAN,Q6LE81_HUMAN,Q6LE80_HUMAN,Q6LE79_HUMAN,Q6LE77_HUMAN,Q6LE65_HUMAN,Q6DUF0_HUMAN,P78495_HUMAN,B4DRB3_HUMAN			YES	RB1,frameshift_variant,p.Met825AsnfsTer13,ENST00000267163,NM_000321.2;							HIGH	2468-2469/2787		RB_HUMAN			Transcript	5		.	ENSP00000267163		CCDS31973.1			1	
PAK7	0	LGGM	GRCh37	20	9546941	9546941	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	3	19	.	.	ENST00000353224.5:c.1081C>A	p.Gln361Lys	p.Q361K	ENST00000353224	NM_177990.2	361	Caa/Aaa	0	1		UPI0000035BAD	0	NA	ENST00000353224		ENSG00000101349	15916		22	1.01		HGNC	p.Q361K		PAK7		SNV							ENST00000353224	protein_coding	getma.org/?cm=var&var=hg19,20,9546941,G,T&fts=all		hmmpanther:PTHR24361,hmmpanther:PTHR24361:SF183,Low_complexity_(Seg):seg		Q/K		T	low	1348/4500		getma.org/?cm=msa&ty=f&p=PAK7_HUMAN&rb=322&re=449&var=Q361K	tolerated(0.75)	Q9UJQ0_HUMAN				PAK7,missense_variant,p.Gln361Lys,ENST00000378429,NM_020341.3;PAK7,missense_variant,p.Gln361Lys,ENST00000378423,;PAK7,missense_variant,p.Gln361Lys,ENST00000353224,NM_177990.2;							MODERATE	1081/2160	Q361K	PAK7_HUMAN			Transcript		benign(0.036)	.	ENSP00000322957		CCDS13107.1			1	
RP1	0	LGGM	GRCh37	8	55541673	55541673	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	32	19	.	.	ENST00000220676.1:c.5231G>T	p.Gly1744Val	p.G1744V	ENST00000220676	NM_006269.1	1744	gGc/gTc	0	1	1	UPI000013455B	0	NA	ENST00000220676		ENSG00000104237	10263		51	2.255		HGNC	p.G1744V		RP1		SNV			1				ENST00000220676	protein_coding	getma.org/?cm=var&var=hg19,8,55541673,G,T&fts=all		hmmpanther:PTHR23005:SF4,hmmpanther:PTHR23005		G/V		T	medium	5379/7100		getma.org/?cm=msa&ty=f&p=RP1_HUMAN&rb=1736&re=1965&var=G1744V	deleterious(0)	A0FDN2_HUMAN			YES	RP1,missense_variant,p.Gly1744Val,ENST00000220676,NM_006269.1;							MODERATE	5231/6471	G1744V	RP1_HUMAN			Transcript		probably_damaging(1)	.	ENSP00000220676		CCDS6160.1			1	
HSPB8	0	LGGM	GRCh37	12	119617306	119617306	+	synonymous_variant	Silent	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	27	20	.	.	ENST00000281938.2:c.189C>A	p.Thr63=	p.T63=	ENST00000281938	NM_014365.2	63	acC/acA	0	1	1	UPI0000037C1B	0		ENST00000281938		ENSG00000152137	30171		47			HGNC	p.T63T		HSPB8		SNV			1				ENST00000281938	protein_coding			hmmpanther:PTHR11527,hmmpanther:PTHR11527:SF27,PIRSF_domain:PIRSF036514		T		A		860/2150							YES	HSPB8,synonymous_variant,p.=,ENST00000281938,NM_014365.2;HSPB8,upstream_gene_variant,,ENST00000541798,;RP11-64B16.3,upstream_gene_variant,,ENST00000538405,;RP11-64B16.4,downstream_gene_variant,,ENST00000535921,;							LOW	189/591		HSPB8_HUMAN			Transcript			.	ENSP00000281938		CCDS9189.1			1	
ABCB6	0	LGGM	GRCh37	2	220082434	220082434	+	synonymous_variant	Silent	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	29	21	.	.	ENST00000265316.3:c.645A>G	p.Thr215=	p.T215=	ENST00000265316	NM_005689.2	215	acA/acG	0	1	1	UPI000004C4BA	0		ENST00000265316		ENSG00000115657	47		50			HGNC	p.H133R	rs532205361	ABCB6		SNV			1				ENST00000417678	protein_coding			hmmpanther:PTHR24221:SF129,hmmpanther:PTHR24221		T		C		962/3016				U3THN0_HUMAN,H7C1R6_HUMAN			YES	ABCB6,synonymous_variant,p.=,ENST00000265316,NM_005689.2;ABCB6,intron_variant,,ENST00000439002,;ABCB6,intron_variant,,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,downstream_gene_variant,,ENST00000429920,;ABCB6,synonymous_variant,p.=,ENST00000417678,;ABCB6,synonymous_variant,p.=,ENST00000452545,;ATG9A,3_prime_UTR_variant,,ENST00000446716,;ABCB6,intron_variant,,ENST00000448398,;ATG9A,downstream_gene_variant,,ENST00000409033,;ABCB6,upstream_gene_variant,,ENST00000497882,;ATG9A,downstream_gene_variant,,ENST00000475339,;ABCB6,upstream_gene_variant,,ENST00000492543,;ABCB6,upstream_gene_variant,,ENST00000496984,;ABCB6,upstream_gene_variant,,ENST00000492953,;ABCB6,upstream_gene_variant,,ENST00000494639,;							LOW	645/2529		ABCB6_HUMAN			Transcript			.	ENSP00000265316		CCDS2436.1			1	
LRRC6	0	LGGM	GRCh37	8	133673785	133673785	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	34	21	.	.	ENST00000250173.1:c.99A>G	p.Ile33Met	p.I33M	ENST00000250173		33	atA/atG	0	1		UPI000000DBC5	0	getma.org/pdb.php?prot=TILB_HUMAN&from=1&to=200&var=I33M	ENST00000519595		ENSG00000129295	16725		55	3.7		HGNC	p.I33M		LRRC6		SNV			1				ENST00000522584	protein_coding	getma.org/?cm=var&var=hg19,8,133673785,T,C&fts=all		PROSITE_profiles:PS51450,hmmpanther:PTHR10588,hmmpanther:PTHR10588:SF114,Pfam_domain:PF14580,Gene3D:3.80.10.10,Superfamily_domains:SSF52058		I/M		C	high	198/1734		getma.org/?cm=msa&ty=f&p=TILB_HUMAN&rb=1&re=200&var=I33M	deleterious(0)					LRRC6,missense_variant,p.Ile33Met,ENST00000519595,NM_012472.4;LRRC6,missense_variant,p.Ile33Met,ENST00000518642,;LRRC6,missense_variant,p.Ile33Met,ENST00000250173,;LRRC6,non_coding_transcript_exon_variant,,ENST00000520446,;LRRC6,non_coding_transcript_exon_variant,,ENST00000518101,;LRRC6,non_coding_transcript_exon_variant,,ENST00000521430,;LRRC6,intron_variant,,ENST00000523503,;LRRC6,missense_variant,p.Ile33Met,ENST00000522584,;							MODERATE	99/1401	I33M	TILB_HUMAN			Transcript		probably_damaging(0.925)	.	ENSP00000429791					1	
ZDHHC16	0	LGGM	GRCh37	10	99215518	99215518	+	missense_variant	Missense_Mutation	SNP	G	G	C	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	33	23	.	.	ENST00000393760.1:c.926G>C	p.Arg309Pro	p.R309P	ENST00000393760	NM_198046.1	309	cGt/cCt	0	1		UPI0000073C8D	0	NA	ENST00000370854		ENSG00000171307	20714		56	1.04		HGNC	p.R309P		ZDHHC16		SNV							ENST00000393760	protein_coding	getma.org/?cm=var&var=hg19,10,99215518,G,C&fts=all		hmmpanther:PTHR12246,hmmpanther:PTHR12246:SF11		R/P		C	low	1115/1798		getma.org/?cm=msa&ty=f&p=ZDH16_HUMAN&rb=306&re=377&var=R309P	deleterious(0.03)	B4DNL2_HUMAN,B1AMU5_HUMAN				ZDHHC16,missense_variant,p.Arg309Pro,ENST00000393760,NM_198046.1;ZDHHC16,missense_variant,p.Arg293Pro,ENST00000370842,;ZDHHC16,missense_variant,p.Arg309Pro,ENST00000370854,NM_032327.2;ZDHHC16,missense_variant,p.Arg293Pro,ENST00000352634,NM_198043.1;ZDHHC16,missense_variant,p.Arg270Pro,ENST00000353979,NM_198044.1;ZDHHC16,missense_variant,p.Arg228Pro,ENST00000345745,NM_198045.1;ZDHHC16,missense_variant,p.Arg251Pro,ENST00000420089,;ZDHHC16,missense_variant,p.Arg233Pro,ENST00000417044,NM_001287803.1;ZDHHC16,missense_variant,p.Arg239Pro,ENST00000370846,NM_001287804.1;MMS19,downstream_gene_variant,,ENST00000438925,NM_022362.4;MMS19,downstream_gene_variant,,ENST00000370782,;MMS19,downstream_gene_variant,,ENST00000327277,;MMS19,downstream_gene_variant,,ENST00000355839,;MMS19,downstream_gene_variant,,ENST00000327238,;MMS19,downstream_gene_variant,,ENST00000434538,;ZDHHC16,downstream_gene_variant,,ENST00000414567,;ZDHHC16,downstream_gene_variant,,ENST00000433086,;MMS19,downstream_gene_variant,,ENST00000444411,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000495735,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000462924,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000466895,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000487315,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000459777,;ZDHHC16,non_coding_transcript_exon_variant,,ENST00000492733,;ZDHHC16,downstream_gene_variant,,ENST00000492610,;MMS19,downstream_gene_variant,,ENST00000415383,;MMS19,downstream_gene_variant,,ENST00000495415,;MMS19,downstream_gene_variant,,ENST00000485400,;MMS19,downstream_gene_variant,,ENST00000480108,;							MODERATE	926/1134	R309P	ZDH16_HUMAN			Transcript		benign(0.063)	.	ENSP00000359891		CCDS7460.1			1	
PLA2G4A	0	LGGM	GRCh37	1	186823517	186823517	+	missense_variant,splice_region_variant	Missense_Mutation	SNP	A	A	T	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	64	23	.	.	ENST00000367466.3:c.31A>T	p.Ile11Leu	p.I11L	ENST00000367466	NM_024420.2	11	Ata/Tta	0	1	1	UPI0000203D76	0	NA	ENST00000367466		ENSG00000116711	9035		87	0.895		HGNC	p.I11L		PLA2G4A		SNV							ENST00000367466	protein_coding	getma.org/?cm=var&var=hg19,1,186823517,A,T&fts=all		PROSITE_profiles:PS50004		I/L		T	low	183/2875		getma.org/?cm=msa&ty=f&p=PA24A_HUMAN&rb=5&re=106&var=I11L	tolerated_low_confidence(0.43)				YES	PLA2G4A,missense_variant,p.Ile11Leu,ENST00000367466,NM_024420.2;PLA2G4A,missense_variant,p.Ile11Leu,ENST00000442353,;PLA2G4A,splice_region_variant,,ENST00000466600,;							MODERATE	31/2250	I11L	PA24A_HUMAN			Transcript		benign(0)	.	ENSP00000356436		CCDS1372.1			1	
EMX2	0	LGGM	GRCh37	10	119303117	119303119	+	inframe_deletion	In_Frame_Del	DEL	GCG	GCG	-	novel	by Submitter	H112971	H112971N.bam	GCG	GCG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	25	25	.	.	ENST00000553456.3:c.340_342del	p.Arg114del	p.R114del	ENST00000553456	NM_004098.3	113	caGCGg/cag	0	1	1	UPI000004CC07	0		ENST00000553456		ENSG00000170370	3341		50			HGNC	p.113_114del		EMX2		deletion			1				ENST00000369201	protein_coding			hmmpanther:PTHR24339,hmmpanther:PTHR24339:SF25		QR/Q		-		1163-1165/2896							YES	EMX2,inframe_deletion,p.Arg114del,ENST00000553456,NM_004098.3;EMX2,inframe_deletion,p.Arg114del,ENST00000442245,NM_001165924.1;EMX2OS,intron_variant,,ENST00000551288,;EMX2OS,upstream_gene_variant,,ENST00000440007,;EMX2OS,upstream_gene_variant,,ENST00000450314,;EMX2,upstream_gene_variant,,ENST00000546446,;							MODERATE	339-341/759		EMX2_HUMAN			Transcript	1		.	ENSP00000450962		CCDS7601.1			1	
LRP4	0	LGGM	GRCh37	11	46917794	46917794	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	15	25	.	.	ENST00000378623.1:c.1015G>A	p.Asp339Asn	p.D339N	ENST00000378623	NM_002334.3	339	Gac/Aac	0	1	1	UPI0000D625E9	0	getma.org/pdb.php?prot=LRP4_HUMAN&from=310&to=349&var=D339N	ENST00000378623		ENSG00000134569	6696		40	2.345		HGNC	p.D339N		LRP4		SNV			1				ENST00000378623	protein_coding	getma.org/?cm=var&var=hg19,11,46917794,C,T&fts=all		PROSITE_profiles:PS50068,hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF196,PROSITE_patterns:PS01209,Gene3D:4.10.400.10,Pfam_domain:PF00057,SMART_domains:SM00192,Superfamily_domains:SSF57424		D/N		T	medium	1258/8076		getma.org/?cm=msa&ty=f&p=LRP4_HUMAN&rb=310&re=349&var=D339N	tolerated(0.24)				YES	LRP4,missense_variant,p.Asp339Asn,ENST00000378623,NM_002334.3;LRP4,downstream_gene_variant,,ENST00000534404,;							MODERATE	1015/5718	D339N	LRP4_HUMAN			Transcript		benign(0.348)	.	ENSP00000367888		CCDS31478.1			1	
ATM	0	LGGM	GRCh37	11	108155085	108155085	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	5	25	.	.	ENST00000278616.4:c.3878A>G	p.Asn1293Ser	p.N1293S	ENST00000278616	NM_000051.3	1293	aAt/aGt	0	1	1	UPI0000DBEF44	0	NA	ENST00000278616		ENSG00000149311	795		30	0.625		HGNC	p.N1293S		ATM		SNV			1				ENST00000527805	protein_coding	getma.org/?cm=var&var=hg19,11,108155085,A,G&fts=all		Superfamily_domains:SSF48371,hmmpanther:PTHR11139,hmmpanther:PTHR11139:SF66		N/S		G	neutral	4263/13147		getma.org/?cm=msa&ty=f&p=ATM_HUMAN&rb=1167&re=1366&var=N1293S	tolerated(0.1)	M0QXY8_HUMAN,E9PRG7_HUMAN,E9PIN0_HUMAN			YES	ATM,missense_variant,p.Asn1293Ser,ENST00000278616,NM_000051.3;ATM,missense_variant,p.Asn1293Ser,ENST00000452508,;ATM,missense_variant,p.Asn1293Ser,ENST00000527805,;ATM,upstream_gene_variant,,ENST00000531525,;ATM,upstream_gene_variant,,ENST00000524792,;ATM,upstream_gene_variant,,ENST00000533733,;							MODERATE	3878/9171	N1293S	ATM_HUMAN			Transcript		benign(0.129)	.	ENSP00000278616		CCDS31669.1			1	
IPO8	0	LGGM	GRCh37	12	30783823	30783823	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	30	29	.	.	ENST00000256079.4:c.3085A>G	p.Asn1029Asp	p.N1029D	ENST00000256079	NM_006390.3	1029	Aat/Gat	0	1	1	UPI000013CEE9	0	NA	ENST00000256079		ENSG00000133704	9853		59	1.24		HGNC	p.N824D		IPO8		SNV							ENST00000544829	protein_coding	getma.org/?cm=var&var=hg19,12,30783823,T,C&fts=all				N/D		C	low	3424/5325		getma.org/?cm=msa&ty=f&p=IPO8_HUMAN&rb=853&re=1037&var=N1029D	tolerated(0.1)	F5H009_HUMAN,F5GXT5_HUMAN			YES	IPO8,missense_variant,p.Asn1029Asp,ENST00000256079,NM_006390.3;IPO8,missense_variant,p.Asn824Asp,ENST00000544829,NM_001190995.1;IPO8,downstream_gene_variant,,ENST00000535598,;							MODERATE	3085/3114	N1029D	IPO8_HUMAN			Transcript		benign(0.005)	.	ENSP00000256079		CCDS8719.1			1	
ATP8A1	0	LGGM	GRCh37	4	42583719	42583719	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	27	30	.	.	ENST00000381668.5:c.753T>A	p.Leu251=	p.L251=	ENST00000381668	NM_006095.2	251	ctT/ctA	0	1	1	UPI0000125063	0		ENST00000381668		ENSG00000124406	13531		57			HGNC	p.L251L		ATP8A1		SNV							ENST00000381668	protein_coding			hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF56,Gene3D:2.70.150.10,TIGRFAM_domain:TIGR01652,Pfam_domain:PF00122,Superfamily_domains:0049471		L		T		985/8270				H0YAJ4_HUMAN			YES	ATP8A1,synonymous_variant,p.=,ENST00000381668,NM_006095.2;ATP8A1,synonymous_variant,p.=,ENST00000264449,NM_001105529.1;ATP8A1,3_prime_UTR_variant,,ENST00000504024,;ATP8A1,non_coding_transcript_exon_variant,,ENST00000504510,;							LOW	753/3495		AT8A1_HUMAN			Transcript			.	ENSP00000371084		CCDS3466.1			1	
LAMA2	0	LGGM	GRCh37	6	129637080	129637080	+	missense_variant	Missense_Mutation	SNP	A	A	C	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	5	30	.	.	ENST00000421865.2:c.3909A>C	p.Glu1303Asp	p.E1303D	ENST00000421865	NM_001079823.1	1303	gaA/gaC	0	1	1	UPI00003673E0	0	NA	ENST00000421865		ENSG00000196569	6482		35	2.175		HGNC	p.E1303D		LAMA2		SNV			1				ENST00000421865	protein_coding	getma.org/?cm=var&var=hg19,6,129637080,A,C&fts=all		Pfam_domain:PF00052,PROSITE_profiles:PS51115,hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF106,SMART_domains:SM00281		E/D		C	medium	3958/9640		getma.org/?cm=msa&ty=f&p=LAMA2_HUMAN&rb=1234&re=1378&var=E1303D	deleterious(0.04)	Q59H37_HUMAN			YES	LAMA2,missense_variant,p.Glu1303Asp,ENST00000421865,NM_001079823.1,NM_000426.3;							MODERATE	3909/9369	E1303D	LAMA2_HUMAN			Transcript		possibly_damaging(0.666)	.	ENSP00000400365		CCDS5138.1			1	
POTEE	0	LGGM	GRCh37	2	131976414	131976414	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	128	32	.	.	ENST00000356920.5:c.439G>T	p.Ala147Ser	p.A147S	ENST00000356920	NM_001083538.1	147	Gcc/Tcc	0	1	1	UPI0000F58EC8	0	getma.org/pdb.php?prot=POTEE_HUMAN&from=143&to=236&var=A147S	ENST00000356920		ENSG00000188219	33895		160	1.65		HGNC	p.A147S		POTEE		SNV							ENST00000358087	protein_coding	getma.org/?cm=var&var=hg19,2,131976414,G,T&fts=all		PROSITE_profiles:PS50297,hmmpanther:PTHR24118:SF46,hmmpanther:PTHR24118,Gene3D:1.25.40.20,Superfamily_domains:SSF48403		A/S		T	low	533/4031		getma.org/?cm=msa&ty=f&p=POTEE_HUMAN&rb=143&re=236&var=A147S	deleterious_low_confidence(0)				YES	POTEE,missense_variant,p.Ala147Ser,ENST00000356920,NM_001083538.1;POTEE,missense_variant,p.Ala147Ser,ENST00000358087,;PLEKHB2,intron_variant,,ENST00000404460,;PLEKHB2,intron_variant,,ENST00000303908,;AC131180.1,non_coding_transcript_exon_variant,,ENST00000514256,;							MODERATE	439/3228	A147S	POTEE_HUMAN			Transcript		possibly_damaging(0.694)	.	ENSP00000439189		CCDS46414.1			1	
CHD1	0	LGGM	GRCh37	5	98229227	98229227	+	missense_variant	Missense_Mutation	SNP	T	T	A	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	41	32	.	.	ENST00000284049.3:c.1884A>T	p.Lys628Asn	p.K628N	ENST00000284049	NM_001270.2	628	aaA/aaT	0	1	1	UPI000013DD75	0	getma.org/pdb.php?prot=CHD1_HUMAN&from=484&to=765&var=K628N	ENST00000284049		ENSG00000153922	1915		73	1.75		HGNC	p.K628N		CHD1		SNV							ENST00000284049	protein_coding	getma.org/?cm=var&var=hg19,5,98229227,T,A&fts=all		Superfamily_domains:SSF52540,SMART_domains:SM00487,Gene3D:3.40.50.300,Pfam_domain:PF00176,hmmpanther:PTHR10799:SF535,hmmpanther:PTHR10799,PROSITE_profiles:PS51192		K/N		A	low	2034/5918		getma.org/?cm=msa&ty=f&p=CHD1_HUMAN&rb=484&re=765&var=K628N	deleterious(0)				YES	CHD1,missense_variant,p.Lys628Asn,ENST00000284049,NM_001270.2;RNU6-402P,downstream_gene_variant,,ENST00000410678,;							MODERATE	1884/5133	K628N	CHD1_HUMAN			Transcript		possibly_damaging(0.826)	.	ENSP00000284049		CCDS34204.1			1	
TYR	0	LGGM	GRCh37	11	88911552	88911552	+	missense_variant	Missense_Mutation	SNP	C	C	A	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	137	32	.	.	ENST00000263321.5:c.431C>A	p.Thr144Asn	p.T144N	ENST00000263321	NM_000372.4	144	aCc/aAc	0	1	1	UPI000004441A	0	NA	ENST00000263321		ENSG00000077498	12442		169	3.55		HGNC	p.T144N		TYR		SNV			1				ENST00000263321	protein_coding	getma.org/?cm=var&var=hg19,11,88911552,C,A&fts=all		Gene3D:1.10.1280.10,hmmpanther:PTHR11474,hmmpanther:PTHR11474:SF16,Superfamily_domains:SSF48056		T/N		A	high	933/2485		getma.org/?cm=msa&ty=f&p=TYRO_HUMAN&rb=1&re=169&var=T144N	deleterious(0)	Q9UMA2_HUMAN,Q9UMA1_HUMAN,L8B082_HUMAN			YES	TYR,missense_variant,p.Thr144Asn,ENST00000263321,NM_000372.4;TYR,non_coding_transcript_exon_variant,,ENST00000526139,;							MODERATE	431/1590	T144N	TYRO_HUMAN			Transcript		possibly_damaging(0.703)	.	ENSP00000263321		CCDS8284.1			1	
PRKD1	0	LGGM	GRCh37	14	30132931	30132931	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	38	33	.	.	ENST00000331968.5:c.670A>G	p.Thr224Ala	p.T224A	ENST00000331968	NM_002742.2	224	Aca/Gca	0	1	1	UPI0000456761	0	NA	ENST00000331968		ENSG00000184304	9407		71	0		HGNC	p.T224A	rs767063420	PRKD1	6.06E-05	SNV			1				ENST00000331968	protein_coding	getma.org/?cm=var&var=hg19,14,30132931,T,C&fts=all		PIRSF_domain:PIRSF000552,hmmpanther:PTHR22968		T/A		C	neutral	900/3726		getma.org/?cm=msa&ty=f&p=KPCD1_HUMAN&rb=199&re=270&var=T224A	tolerated(0.95)	Q1KKQ2_HUMAN			YES	PRKD1,missense_variant,p.Thr224Ala,ENST00000331968,NM_002742.2;PRKD1,missense_variant,p.Thr224Ala,ENST00000415220,;PRKD1,downstream_gene_variant,,ENST00000549503,;PRKD1,non_coding_transcript_exon_variant,,ENST00000468370,;							MODERATE	670/2739	T224A	KPCD1_HUMAN			Transcript		benign(0.001)	.	ENSP00000333568	8.24E-06	CCDS9637.1			1	
CCDC132	0	LGGM	GRCh37	7	92987651	92987651	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	44	33	.	.	ENST00000305866.5:c.2798C>T	p.Thr933Ile	p.T933I	ENST00000305866	NM_017667.3	933	aCc/aTc	0	1	1	UPI000015F998	0	NA	ENST00000305866		ENSG00000004766	25956		77	0.875		HGNC	p.T653I		CCDC132		SNV							ENST00000535481	protein_coding	getma.org/?cm=var&var=hg19,7,92987651,C,T&fts=all		hmmpanther:PTHR13258,Pfam_domain:PF10474		T/I		T	low	2926/3613		getma.org/?cm=msa&ty=f&p=CC132_HUMAN&rb=723&re=958&var=T933I	tolerated(0.56)	A7MD03_HUMAN			YES	CCDC132,missense_variant,p.Thr903Ile,ENST00000544910,NM_001257998.1;CCDC132,missense_variant,p.Thr933Ile,ENST00000305866,NM_017667.3;CCDC132,missense_variant,p.Thr653Ile,ENST00000535481,;CCDC132,3_prime_UTR_variant,,ENST00000541136,;CCDC132,downstream_gene_variant,,ENST00000443443,;CCDC132,downstream_gene_variant,,ENST00000474412,;CCDC132,3_prime_UTR_variant,,ENST00000441602,;CCDC132,non_coding_transcript_exon_variant,,ENST00000471188,;							MODERATE	2798/2895	T933I	CC132_HUMAN			Transcript		benign(0.002)	.	ENSP00000307666		CCDS43617.1			1	
ATP6V1A	0	LGGM	GRCh37	3	113513808	113513808	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	23	36	.	.	ENST00000273398.3:c.1078G>A	p.Glu360Lys	p.E360K	ENST00000273398	NM_001690.3	360	Gaa/Aaa	0	1	1	UPI000013809A	0	getma.org/pdb.php?prot=VATA_HUMAN&from=229&to=455&var=E360K	ENST00000273398		ENSG00000114573	851		59	4.135		HGNC	p.E360K		ATP6V1A		SNV							ENST00000273398	protein_coding	getma.org/?cm=var&var=hg19,3,113513808,G,A&fts=all		HAMAP:MF_00309,hmmpanther:PTHR15184:SF7,hmmpanther:PTHR15184,Pfam_domain:PF00006,TIGRFAM_domain:TIGR01042,Gene3D:3.40.50.300,Superfamily_domains:SSF52540		E/K		A	high	1186/4591		getma.org/?cm=msa&ty=f&p=VATA_HUMAN&rb=229&re=455&var=E360K	deleterious(0)	C9JVW8_HUMAN,C9JA17_HUMAN,B7Z2V6_HUMAN,B7Z1R5_HUMAN			YES	ATP6V1A,missense_variant,p.Glu360Lys,ENST00000273398,NM_001690.3;ATP6V1A,missense_variant,p.Glu327Lys,ENST00000538620,;ATP6V1A,3_prime_UTR_variant,,ENST00000470455,;							MODERATE	1078/1854	E360K	VATA_HUMAN			Transcript		probably_damaging(0.992)	.	ENSP00000273398		CCDS2976.1			1	
INPPL1	0	LGGM	GRCh37	11	71940144	71940144	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	14	40	.	.	ENST00000298229.2:c.529G>T	p.Gly177Trp	p.G177W	ENST00000298229	NM_001567.3	177	Ggg/Tgg	0	1	1	UPI000013E4AF	0	NA	ENST00000298229		ENSG00000165458	6080		54	1.5		HGNC	p.G177W		INPPL1		SNV			1				ENST00000298229	protein_coding	getma.org/?cm=var&var=hg19,11,71940144,G,T&fts=all		hmmpanther:PTHR11200,hmmpanther:PTHR11200:SF15		G/W		T	low	733/4733		getma.org/?cm=msa&ty=f&p=SHIP2_HUMAN&rb=103&re=302&var=G177W	tolerated(0.06)	H0YFZ4_HUMAN,F5H588_HUMAN,F5GYK9_HUMAN			YES	INPPL1,missense_variant,p.Gly177Trp,ENST00000298229,NM_001567.3;INPPL1,5_prime_UTR_variant,,ENST00000541756,;INPPL1,5_prime_UTR_variant,,ENST00000538751,;INPPL1,5_prime_UTR_variant,,ENST00000540329,;INPPL1,5_prime_UTR_variant,,ENST00000537656,;INPPL1,downstream_gene_variant,,ENST00000540973,;INPPL1,downstream_gene_variant,,ENST00000543234,;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,,ENST00000538339,;INPPL1,upstream_gene_variant,,ENST00000535985,;INPPL1,upstream_gene_variant,,ENST00000542295,;							MODERATE	529/3777	G177W	SHIP2_HUMAN			Transcript		probably_damaging(0.975)	.	ENSP00000298229		CCDS8213.1			1	
ADCY8	0	LGGM	GRCh37	8	131896893	131896893	+	missense_variant	Missense_Mutation	SNP	C	C	T	novel	by Submitter	H112971	H112971N.bam	C	C					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	54	45	.	.	ENST00000286355.5:c.2026G>A	p.Asp676Asn	p.D676N	ENST00000286355	NM_001115.2	676	Gac/Aac	0	1	1	UPI000012887C	0	NA	ENST00000286355		ENSG00000155897	239		99	1.04		HGNC	p.D676N	rs751806556	ADCY8		SNV							ENST00000286355	protein_coding	getma.org/?cm=var&var=hg19,8,131896893,C,T&fts=all		Pfam_domain:PF06327,hmmpanther:PTHR11920,hmmpanther:PTHR11920:SF229		D/N		T	low	4119/5938	1.50E-05	getma.org/?cm=msa&ty=f&p=ADCY8_HUMAN&rb=617&re=712&var=D676N	tolerated(0.06)	E5RFR2_HUMAN			YES	ADCY8,missense_variant,p.Asp676Asn,ENST00000286355,NM_001115.2;ADCY8,missense_variant,p.Asp676Asn,ENST00000377928,;							MODERATE	2026/3756	D676N	ADCY8_HUMAN			Transcript		possibly_damaging(0.644)	.	ENSP00000286355	8.24E-06	CCDS6363.1			1	
SLC16A6	0	LGGM	GRCh37	17	66270099	66270099	+	synonymous_variant	Silent	SNP	A	A	T	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	18	45	.	.	ENST00000327268.4:c.345T>A	p.Ser115=	p.S115=	ENST00000327268	NM_001174166.1	115	tcT/tcA	0	1	1	UPI00001AA3B9	0		ENST00000327268		ENSG00000108932	10927		63			HGNC	p.S115S		SLC16A6		SNV							ENST00000580666	protein_coding			Gene3D:1.20.1250.20,Pfam_domain:PF07690,PROSITE_profiles:PS50850,hmmpanther:PTHR11360,hmmpanther:PTHR11360:SF20,Superfamily_domains:SSF103473		S		T		510/3807				J3KS02_HUMAN,A1L174_HUMAN			YES	SLC16A6,synonymous_variant,p.=,ENST00000327268,NM_001174166.1;SLC16A6,synonymous_variant,p.=,ENST00000580666,NM_004694.4;ARSG,intron_variant,,ENST00000448504,NM_014960.4;SLC16A6,intron_variant,,ENST00000583477,;SLC16A6,downstream_gene_variant,,ENST00000582867,;ARSG,non_coding_transcript_exon_variant,,ENST00000578726,;							LOW	345/1572		MOT7_HUMAN			Transcript			.	ENSP00000319991		CCDS11675.1			1	
ZNF268	0	LGGM	GRCh37	12	133779026	133779026	+	missense_variant	Missense_Mutation	SNP	A	A	G	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	70	47	.	.	ENST00000536435.2:c.754A>G	p.Ile252Val	p.I252V	ENST00000536435	NM_003415.2	252	Att/Gtt	0	1		UPI000013C33E	0	NA	ENST00000228289		ENSG00000090612	13061		117	0.52		HGNC	p.I91V		ZNF268		SNV							ENST00000537565	protein_coding	getma.org/?cm=var&var=hg19,12,133779026,A,G&fts=all		hmmpanther:PTHR24377,hmmpanther:PTHR24377:SF255		I/V		G	neutral	960/3543		getma.org/?cm=msa&ty=f&p=ZN268_HUMAN&rb=122&re=275&var=I252V	tolerated(0.36)	Q9H337_HUMAN,K7EMS6_HUMAN,F5H467_HUMAN				ZNF268,missense_variant,p.Ile252Val,ENST00000536435,NM_003415.2,NM_001165885.1;ZNF268,missense_variant,p.Ile252Val,ENST00000228289,NM_001165882.2,NM_001165881.2;ZNF268,missense_variant,p.Ile91Val,ENST00000537565,;ZNF268,3_prime_UTR_variant,,ENST00000541009,NM_152943.2;ZNF268,3_prime_UTR_variant,,ENST00000542986,;ZNF268,3_prime_UTR_variant,,ENST00000536899,NM_001165884.2;ZNF268,3_prime_UTR_variant,,ENST00000542711,NM_001165886.1;ZNF268,3_prime_UTR_variant,,ENST00000539248,NM_001165883.1;ZNF268,3_prime_UTR_variant,,ENST00000591951,;CTD-2140B24.4,downstream_gene_variant,,ENST00000540096,;ZNF268,downstream_gene_variant,,ENST00000416488,;ZNF268,downstream_gene_variant,,ENST00000541211,;ZNF268,downstream_gene_variant,,ENST00000500625,;ZNF268,downstream_gene_variant,,ENST00000592241,NM_001165887.1;ZNF268,downstream_gene_variant,,ENST00000585488,;ZNF268,downstream_gene_variant,,ENST00000588312,;ZNF268,downstream_gene_variant,,ENST00000534953,;							MODERATE	754/2844	I252V	ZN268_HUMAN			Transcript		benign(0)	.	ENSP00000228289		CCDS45012.1			1	
ATRNL1	0	LGGM	GRCh37	10	116919866	116919866	+	missense_variant	Missense_Mutation	SNP	T	T	C	novel	by Submitter	H112971	H112971N.bam	T	T					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	72	49	.	.	ENST00000355044.3:c.895T>C	p.Phe299Leu	p.F299L	ENST00000355044	NM_207303.2	299	Ttc/Ctc	0	1	1	UPI000021CCF8	0	NA	ENST00000355044		ENSG00000107518	29063		121	1.1		HGNC	p.F299L		ATRNL1		SNV							ENST00000355044	protein_coding	getma.org/?cm=var&var=hg19,10,116919866,T,C&fts=all		hmmpanther:PTHR10574,hmmpanther:PTHR10574:SF224		F/L		C	low	1021/8479		getma.org/?cm=msa&ty=f&p=ATRN1_HUMAN&rb=281&re=350&var=F299L	tolerated(0.68)				YES	ATRNL1,missense_variant,p.Phe299Leu,ENST00000355044,NM_207303.2;ATRNL1,missense_variant,p.Phe299Leu,ENST00000527407,NM_001276282.1;ATRNL1,missense_variant,p.Phe232Leu,ENST00000526946,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000529665,;ATRNL1,non_coding_transcript_exon_variant,,ENST00000485327,;							MODERATE	895/4140	F299L	ATRN1_HUMAN			Transcript		benign(0.142)	.	ENSP00000347152		CCDS7592.1			1	
FBN2	0	LGGM	GRCh37	5	127713539	127713539	+	synonymous_variant	Silent	SNP	A	A	G	novel	by Submitter	H112971	H112971N.bam	A	A					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	68	52	.	.	ENST00000508053.1:c.1755T>C	p.Leu585=	p.L585=	ENST00000508053		585	ctT/ctC	0	1		UPI0000519468	0		ENST00000262464		ENSG00000138829	3604		120			HGNC	p.L585L		FBN2		SNV			1				ENST00000262464	protein_coding			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,Superfamily_domains:SSF57184		L		G		2194/10724								FBN2,synonymous_variant,p.=,ENST00000508053,;FBN2,synonymous_variant,p.=,ENST00000262464,NM_001999.3;FBN2,synonymous_variant,p.=,ENST00000508989,;FBN2,upstream_gene_variant,,ENST00000511489,;							LOW	1755/8739		FBN2_HUMAN			Transcript			.	ENSP00000262464		CCDS34222.1			1	
PCDHB5	0	LGGM	GRCh37	5	140516436	140516436	+	missense_variant	Missense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	70	53	.	.	ENST00000231134.5:c.1420G>T	p.Ala474Ser	p.A474S	ENST00000231134	NM_015669.2	474	Gcc/Tcc	0	1	1	UPI00001273E1	0	getma.org/pdb.php?prot=PCDB5_HUMAN&from=455&to=551&var=A474S	ENST00000231134		ENSG00000113209	8690		123	3.77		HGNC	p.A474S		PCDHB5		SNV							ENST00000231134	protein_coding	getma.org/?cm=var&var=hg19,5,140516436,G,T&fts=all		Superfamily_domains:SSF49313,SMART_domains:SM00112,Gene3D:2.60.40.60,Pfam_domain:PF00028,hmmpanther:PTHR24028:SF64,hmmpanther:PTHR24028,PROSITE_profiles:PS50268		A/S		T	high	1637/2904		getma.org/?cm=msa&ty=f&p=PCDB5_HUMAN&rb=455&re=551&var=A474S	deleterious_low_confidence(0)				YES	PCDHB5,missense_variant,p.Ala474Ser,ENST00000231134,NM_015669.2;							MODERATE	1420/2388	A474S	PCDB5_HUMAN			Transcript		probably_damaging(0.99)	.	ENSP00000231134		CCDS4247.1			1	
ABCA13	0	LGGM	GRCh37	7	48280554	48280554	+	missense_variant	Missense_Mutation	SNP	G	G	A	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	65	56	.	.	ENST00000435803.1:c.1153G>A	p.Glu385Lys	p.E385K	ENST00000435803	NM_152701.3	385	Gaa/Aaa	0	1	1	UPI00001A95EA	0	NA	ENST00000435803		ENSG00000179869	14638		121	0.345		HGNC	p.E385K		ABCA13		SNV							ENST00000435803	protein_coding	getma.org/?cm=var&var=hg19,7,48280554,G,A&fts=all		hmmpanther:PTHR19229,hmmpanther:PTHR19229:SF113		E/K		A	neutral	1177/17184		getma.org/?cm=msa&ty=f&p=ABCAD_HUMAN&rb=201&re=400&var=E385K					YES	ABCA13,missense_variant,p.Glu385Lys,ENST00000435803,NM_152701.3;ABCA13,3_prime_UTR_variant,,ENST00000417403,;							MODERATE	1153/15177	E385K	ABCAD_HUMAN			Transcript		benign(0.003)	.	ENSP00000411096		CCDS47584.1			1	
ITGAV	0	LGGM	GRCh37	2	187506263	187506263	+	synonymous_variant	Silent	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	57	60	.	.	ENST00000261023.3:c.1107G>T	p.Arg369=	p.R369=	ENST00000261023	NM_002210.4	369	cgG/cgT	0	1	1	UPI000013D12E	0		ENST00000261023		ENSG00000138448	6150		117			HGNC	p.R333R		ITGAV		SNV							ENST00000374907	protein_coding			Gene3D:3nigC00,Prints_domain:PR01185,PROSITE_profiles:PS51470,hmmpanther:PTHR23220,hmmpanther:PTHR23220:SF4,SMART_domains:SM00191,Superfamily_domains:SSF69318		R		T		1381/7030				L7RXH0_HUMAN			YES	ITGAV,synonymous_variant,p.=,ENST00000261023,NM_002210.4;ITGAV,synonymous_variant,p.=,ENST00000374907,NM_001145000.2;ITGAV,synonymous_variant,p.=,ENST00000433736,NM_001144999.2;AC017101.10,non_coding_transcript_exon_variant,,ENST00000453665,;							LOW	1107/3147		ITAV_HUMAN			Transcript			.	ENSP00000261023		CCDS2292.1			1	
CYLC2	0	LGGM	GRCh37	9	105767538	105767538	+	stop_gained	Nonsense_Mutation	SNP	G	G	T	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	68	68	.	.	ENST00000374798.3:c.625G>T	p.Glu209Ter	p.E209*	ENST00000374798	NM_001340.3	209	Gaa/Taa	0	1	1	UPI0000128C36	0	NA	ENST00000374798		ENSG00000155833	2583		136	0		HGNC	p.E209X		CYLC2		SNV							ENST00000487798	protein_coding	getma.org/?cm=var&var=hg19,9,105767538,G,T&fts=all		Low_complexity_(Seg):seg,hmmpanther:PTHR16742		E/*		T	NA	695/2171		NA					YES	CYLC2,stop_gained,p.Glu209Ter,ENST00000374798,NM_001340.3;CYLC2,stop_gained,p.Glu209Ter,ENST00000487798,;							HIGH	625/1047	E209*	CYLC2_HUMAN			Transcript			.	ENSP00000420256		CCDS35085.1			1	
APOB	0	LGGM	GRCh37	2	21230507	21230508	+	frameshift_variant	Frame_Shift_Del	DEL	AG	AG	-	novel	by Submitter	H112971	H112971N.bam	AG	AG					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	41	98	.	.	ENST00000233242.1:c.9232_9233del	p.Leu3078GlufsTer14	p.L3078Efs*14	ENST00000233242	NM_000384.2	3078	CTg/g	0	1	1	UPI0000141B94	0		ENST00000233242		ENSG00000084674	603		139			HGNC	p.3078_3078del		APOB		deletion			1				ENST00000233242	protein_coding			hmmpanther:PTHR13769,hmmpanther:PTHR13769:SF1		L/X		-		9360-9361/14121				S5FVK9_HUMAN,Q9UE53_HUMAN,Q9UE52_HUMAN,Q13828_HUMAN			YES	APOB,frameshift_variant,p.Leu3078GlufsTer14,ENST00000233242,NM_000384.2;							HIGH	9232-9233/13692		APOB_HUMAN			Transcript			.	ENSP00000233242		CCDS1703.1			1	
NEB	0	LGGM	GRCh37	2	152553731	152553731	+	synonymous_variant	Silent	SNP	G	G	C	novel	by Submitter	H112971	H112971N.bam	G	G					Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H112971N.bam, H112971T.bam	Illumina HiSeq	79	102	.	.	ENST00000397345.3:c.1401C>G	p.Gly467=	p.G467=	ENST00000397345	NM_001164508.1	467	ggC/ggG	0	1		UPI0000212787	0		ENST00000172853		ENSG00000183091	7720		181			HGNC	p.G467G		NEB		SNV			1				ENST00000409198	protein_coding			PROSITE_profiles:PS51216,hmmpanther:PTHR11039,hmmpanther:PTHR11039:SF37		G		C		1549/20577				J3QK84_HUMAN				NEB,synonymous_variant,p.=,ENST00000397345,NM_001164508.1;NEB,synonymous_variant,p.=,ENST00000427231,NM_001164507.1,NM_001271208.1;NEB,synonymous_variant,p.=,ENST00000604864,;NEB,synonymous_variant,p.=,ENST00000603639,;NEB,synonymous_variant,p.=,ENST00000409198,NM_004543.4;NEB,synonymous_variant,p.=,ENST00000172853,;NEB,non_coding_transcript_exon_variant,,ENST00000489048,;							LOW	1401/20010					Transcript			.	ENSP00000172853					1	
AL360154.1	-	LGGM	GRCh37	chr1_gl000192_random	197241	197241	+		Silent	SNP	G	G	T	novel	by Submitter	H090284	H090284N.bam	G	G	G	T	G	G	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H090284N.bam, H090284T.bam	Illumina HiSeq	28	4																									p.P347P											ENST00000545452																																									
AL360154.1	-	LGGM	GRCh37	chr1_gl000192_random	197315	197315	+		Missense_Mutation	SNP	C	C	A	novel	by Submitter	H080037	H080037N.bam	C	C	C	A	C	C	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080037N.bam, H080037T.bam	Illumina HiSeq	15	3																									p.G323C											ENST00000545452																																									
AL360154.1	-	LGGM	GRCh37	chr1_gl000192_random	199576	199576	+		Missense_Mutation	SNP	C	C	G	novel	by Submitter	H080782	H080782N.bam	C	C	C	G	C	C	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H080782N.bam, H080782T.bam	Illumina HiSeq	76	4																									p.E282Q											ENST00000545452																																									
SRSF10	100996657	LGGM	GRCh37	chr1_gl000191_random	37529	37529	+		Missense_Mutation	SNP	G	G	A	novel	by Submitter	H060264	H060264N.bam	G	G	G	A	G	G	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060264N.bam, H060264T.bam	Illumina HiSeq	14	6																									p.T153I											ENST00000433682																																									
AC109135.1	-	LGGM	GRCh37	chr1_gl000192_random	313524	313524	+		Missense_Mutation	SNP	G	G	A	novel	by Submitter	H091831	H091831N.bam	G	G	G	A	G	G	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091831N.bam, H091831T.bam	Illumina HiSeq	4	6																									p.L417F											ENST00000425945																																									
AC109135.1	-	LGGM	GRCh37	chr1_gl000192_random	380974	380974	+		Splice_Site	SNP	C	C	G	novel	by Submitter	H072969	H072969N.bam	C	C	C	G	C	C	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H072969N.bam, H072969T.bam	Illumina HiSeq	5	9																									-											ENST00000425945																																									
KIR3DS1	100133046	LGGM	GRCh37	chr19_gl000209_random	72166	72166	+		Missense_Mutation	SNP	T	T	A	novel	by Submitter	H091449	H091449N.bam	T	T	T	A	T	T	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H091449N.bam, H091449T.bam	Illumina HiSeq	30	19																									p.W106R											ENST00000400847																																									
KIR3DS1	100133046	LGGM	GRCh37	chr19_gl000209_random	66839	66839	+		Missense_Mutation	SNP	G	G	A	novel	by Submitter	H110180	H110180N.bam	G	G	G	A	G	G	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H110180N.bam, H110180T.bam	Illumina HiSeq	18	19																									p.S270N											ENST00000400851																																									
KIR3DL2	-	LGGM	GRCh37	chr19_gl000209_random	149414	149414	+		Missense_Mutation	SNP	C	C	A	novel	by Submitter	H060616	H060616N.bam	C	C	C	A	C	C	Unknown	Unknown	Somatic	Phase_1	Capture	Sanger_PCR_gDNA	0	H060616N.bam, H060616T.bam	Illumina HiSeq	63	24																									p.R99S											ENST00000400829																																									
